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	G	C	tCw	wGa	tC	Ga	tC_mutation	tC_mutation_to_G	tC_mutation_to_T	APOBEC_mutation	APOBEC_mutation_to_G	APOBEC_mutation_to_T	"CONTEXT(+/-20)"	g_counts	c_counts	tcw_counts	wga_counts	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_CancerGermlineMut	i_CGC_CancerMolecularGenetics	i_CGC_CancerSomaticMut	i_CGC_CancerSyndrome	i_CGC_Chr	i_CGC_ChrBand	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_OtherGermlineMut	i_CGC_Other_Diseases	i_CGC_TissueType	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_AccessionNumbers	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_EnzymeIDs	i_HGNC_Genefamilydescription	i_HGNC_HGNCID	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_NameSynonyms	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_PrimaryIDs	i_HGNC_PubmedIDs	i_HGNC_RecordType	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_SecondaryIDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGAIDs	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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos1coor	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	newbase	end	tum_allele1	tum_allele2	start	effect_idx	newbase_idx	pat_idx	is_coding	is_flank	is_indel	is_ins	is_del	is_missense	is_nonsense	is_splice	is_silent	gene_idx	context_and_effect	context65	categ_idx	trackpos	categ	gene	chr	pos	type	classification	ref_allele	patient	DistBetween_Mutations	Distance_to_LT_end	Distance_to_RT_end	Strain_Mutation_ID	Dataset_Mutation_ID	Complex_ID	Complex_Size	StrainCluster_ID	Dataset_Cluster_ID	Distance_Between_Clusters	Cluster_Size_Mutations	Cluster_Size_Complexes	Cluster_Length	Cluster_Coordination	Content_of_non_coordinated_cluster	Cluster_Pvalue
EXOSC10	5394	broad.mit.edu	37	chr1	11155844	11155844	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cagaattacatcattggcatCaactagtaaatcaaacttgt	5	8	3	1			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr1:11155844C>G	ENST00000376936.4	-	3	392	c.343G>C	c.(343-345)Gat>Cat	p.D115H	EXOSC10_ENST00000304457.7_Missense_Mutation_p.D115H|EXOSC10_ENST00000544779.1_Missense_Mutation_p.D115H	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	115					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		TCATTGGCATCAACTAGTAAA	0.423																																					Colon(179;105 1987 14326 27364 29542)	ENST00000544779.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(343-345)Gat>Cat		exosome component 10							297	264	275					1																	11155844		2203	4300	6503	SO:0001583	missense	5394				CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding	g.chr1:11155844C>G	BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"polymyositis/scleroderma autoantigen 2 (100kD)"	605960	"polymyositis/scleroderma autoantigen 2, 100kDa"	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.343G>C	1.37:g.11155844C>G	ENSP00000366135:p.Asp115His					EXOSC10_ENST00000304457.7_Missense_Mutation_p.D115H|EXOSC10_ENST00000376936.4_Missense_Mutation_p.D115H	p.D115H			Q01780	EXOSX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)	3	348	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	115					B1AKQ0|B1AKQ1|Q15158	Missense_Mutation	SNP	ENST00000376936.4	37	c.343G>C	CCDS30584.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.169925	0.57584	.	.	ENSG00000171824	ENST00000376936;ENST00000304457;ENST00000544779	.	.	.	5.5	5.5	0.81552	Exosome-associated factor Rrp6, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80476	0.4630	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.82004	-0.0672	9	0.62326	D	0.03	-26.8169	18.3733	0.90420	0.0:1.0:0.0:0.0	.	115;115	Q01780-2;Q01780	.;EXOSX_HUMAN	H	115	.	ENSP00000307307:D115H	D	-	1	0	EXOSC10	11078431	1.000000	0.71417	0.367000	0.25926	0.088000	0.18126	7.558000	0.82253	2.573000	0.86826	0.561000	0.74099	GAT		0.423	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998		43	97	0	0	0	1	0	43	97					G	11155844	C	G	11155844	3	3	1	1	0	0	0	0	1	0	0	0	5314	826	29	4	2406	4	EXOSC10	1	11155844	Missense_Mutation	SNP	C	TCGA-4C-A93U-01A-11D-A397-08		11155844	238094777	1	1											
MTF1	4520	broad.mit.edu	37	chr1	38280866	38280866	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccctgcagtagtgcttcaAtgggaatcagattggacggg	13	10	2	1	rs201482284		TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr1:38280866A>G	ENST00000373036.4	-	11	2344	c.2204T>C	c.(2203-2205)aTt>aCt	p.I735T		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	735					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TAGTGCTTCAATGGGAATCAG	0.552																																						ENST00000373036.4																			0				endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31						c.(2203-2205)aTt>aCt		metal-regulatory transcription factor 1		A	THR/ILE	1,4405	2.1+/-5.4	0,1,2202	86	84	84		2204	3.4	1.0	1		84	4,8596	3.7+/-12.6	0,4,4296	yes	missense	MTF1	NM_005955.2	89	0,5,6498	GG,GA,AA		0.0465,0.0227,0.0384	benign	735/754	38280866	5,13001	2203	4300	6503	SO:0001583	missense	4520					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr1:38280866A>G	BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.2204T>C	1.37:g.38280866A>G	ENSP00000362127:p.Ile735Thr						p.I735T	NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN			11	2344	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	735					B2RAK6|Q96CB1	Missense_Mutation	SNP	ENST00000373036.4	37	c.2204T>C	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	A	13.48	2.248447	0.39797	2.27E-4	4.65E-4	ENSG00000188786	ENST00000373036	T	0.13420	2.59	5.71	3.37	0.38596	.	0.077886	0.53938	D	0.000058	T	0.14960	0.0361	M	0.61703	1.905	0.34706	D	0.727226	B	0.02656	0.0	B	0.04013	0.001	T	0.06303	-1.0834	10	0.87932	D	0	.	8.2267	0.31572	0.7908:0.1393:0.0699:0.0	.	735	Q14872	MTF1_HUMAN	T	735	ENSP00000362127:I735T	ENSP00000362127:I735T	I	-	2	0	MTF1	38053453	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.520000	0.67080	0.435000	0.26365	0.460000	0.39030	ATT		0.552	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955		32	45	0	0	0	1	0	32	45					G	38280866	A	G	38280866	3	3	1	1	0	0	0	0	1	0	0	0	9922	101	4	3	61	3	MTF1	1	38280866	Missense_Mutation	SNP	A	TCGA-4C-A93U-01A-11D-A397-08	27125022	38280866	210969755	2	2											
STXBP3	6814	broad.mit.edu	37	chr1	109337503	109337503	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaataagttcaagcttaatAtagaaaagctctgcaaaact	6	6	2	2			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr1:109337503A>G	ENST00000370008.3	+	13	1134	c.1084A>G	c.(1084-1086)Ata>Gta	p.I362V		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	362					blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		CAAGCTTAATATAGAAAAGCT	0.313																																						ENST00000370008.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13						c.(1084-1086)Ata>Gta		syntaxin binding protein 3							47	46	46					1																	109337503		2203	4300	6503	SO:0001583	missense	6814				negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding	g.chr1:109337503A>G	D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.1084A>G	1.37:g.109337503A>G	ENSP00000359025:p.Ile362Val						p.I362V	NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)	13	1134	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	362					A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Missense_Mutation	SNP	ENST00000370008.3	37	c.1084A>G	CCDS790.1	.	.	.	.	.	.	.	.	.	.	A	1.781	-0.481913	0.04383	.	.	ENSG00000116266	ENST00000370008	T	0.76186	-1.0	4.97	4.97	0.65823	.	0.111536	0.64402	D	0.000004	T	0.24699	0.0599	N	0.01751	-0.74	0.34868	D	0.743341	B	0.06786	0.001	B	0.08055	0.003	T	0.15954	-1.0419	10	0.21540	T	0.41	-22.0885	5.6087	0.17394	0.7147:0.16:0.1253:0.0	.	362	O00186	STXB3_HUMAN	V	362	ENSP00000359025:I362V	ENSP00000359025:I362V	I	+	1	0	STXBP3	109139026	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.251000	0.51453	2.233000	0.73108	0.529000	0.55759	ATA		0.313	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030591.1	NM_007269		21	41	0	0	0	1	0	21	41					G	109337503	A	G	109337503	3	3	1	1	0	0	0	0	1	0	0	0	15353	449	16	3	1134	3	STXBP3	1	109337503	Missense_Mutation	SNP	A	TCGA-4C-A93U-01A-11D-A397-08	71056637	109337503	139913118	3	3											
RPTN	126638	broad.mit.edu	37	chr1	152127881	152127884	+	Frame_Shift_Del	DEL	TGTC	TGTC	-													cataatgatagctctggcctTgtctgtctgtctgaccgtag							TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr1:152127881_152127884delTGTC	ENST00000316073.3	-	3	1755_1758	c.1691_1694delGACA	c.(1690-1695)agacaafs	p.RQ564fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	564	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GCTCTGGCCTTGTCTGTCTGTCTG	0.485																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1690-1695)aafs		repetin																																				SO:0001589	frameshift_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152127881_152127884delTGTC	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1691_1694delGACA	1.37:g.152127889_152127892delTGTC	ENSP00000317895:p.Arg564fs						p.RQ564fs	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1755_1758	-			564			Gln-rich.		B7ZBZ3	Frame_Shift_Del	DEL	ENST00000316073.3	37	c.1691_1694delGACA	CCDS41397.1																																																																																				0.485	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		8	998						8	998	---	---	---	---	-	152127884	TGTC	-	152127881	7	5	1	1	0	1	0	1	0	0	0	0	13664	1812	63	0	664	0	RPTN	1	152127881	Frame_Shift_Del	DEL	TGTC	TCGA-4C-A93U-01A-11D-A397-08	42790378	152127881	97122740	4	4											
NDUFS2	4720	broad.mit.edu	37	chr1	161183498	161183498	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgcccttatcgatgcaagatCaaggctcctggttttgccca	9	13	1	1			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr1:161183498C>T	ENST00000367993.3	+	13	1720	c.1272C>T	c.(1270-1272)atC>atT	p.I424I	FCER1G_ENST00000289902.1_5'Flank|FCER1G_ENST00000367992.3_5'Flank|NDUFS2_ENST00000465923.1_3'UTR|NDUFS2_ENST00000392179.4_Silent_p.I424I	NM_004550.4	NP_004541.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	424					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)	GATGCAAGATCAAGGCTCCTG	0.448																																						ENST00000392179.4																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18						c.(1270-1272)atC>atT		NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						123	116	119					1																	161183498		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:161183498C>T	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.1272C>T	1.37:g.161183498C>T						NDUFS2_ENST00000367993.3_Silent_p.I424I|NDUFS2_ENST00000465923.1_3'UTR	p.I424I	NM_001166159.1	NP_001159631.1	O75306	NDUS2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		12	1511	+	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		424					D3DVG7|J3KPM7|Q5VTW0|Q969P3|Q9UEV3	Silent	SNP	ENST00000367993.3	37	c.1272C>T	CCDS1224.1																																																																																				0.448	NDUFS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083015.1	NM_004550		48	160	0	0	0	1	0	48	160					T	161183498	C	T	161183498	2	4	1	1	0	0	0	0	0	0	0	1	10292	816	29	2		2	NDUFS2	1	161183498	Silent	SNP	C	TCGA-4C-A93U-01A-11D-A397-08	9055617	161183498	88067123	5	5											
RYR2	6262	broad.mit.edu	37	chr1	237794725	237794725	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atacgtccattgtcctttctAgggatattatgaataacaaa	6	7	1	1			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr1:237794725A>G	ENST00000366574.2	+	42	6757		c.e42-1		RYR2_ENST00000360064.6_Splice_Site|RYR2_ENST00000542537.1_Splice_Site	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTCCTTTCTAGGGATATTAT	0.403																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.e42-1		ryanodine receptor 2 (cardiac)							76	74	75					1																	237794725		1928	4165	6093	SO:0001630	splice_region_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237794725A>G	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6441-1A>G	1.37:g.237794725A>G						RYR2_ENST00000360064.6_Splice_Site|RYR2_ENST00000542537.1_Splice_Site		NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		42	6757	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)						Q15411|Q546N8|Q5T3P2	Splice_Site	SNP	ENST00000366574.2	37		CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	17.87	3.495701	0.64186	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7731	0.78187	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RYR2	235861348	1.000000	0.71417	0.996000	0.52242	0.532000	0.34746	9.287000	0.95975	2.183000	0.69458	0.528000	0.53228	.		0.403	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	Intron	22	17	0	0	0	1	0	22	17					G	237794725	A	G	237794725	5	3	1	1	0	0	0	0	0	0	1	0	13769	434	15	3	6605	3	RYR2	1	237794725	Splice_Site	SNP	A	TCGA-4C-A93U-01A-11D-A397-08	76611227	237794725	11455896	6	6											
HTRA2	27429	broad.mit.edu	37	chr2	74757203	74757203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcgggctttggggggcattCgctgggggaggagaccccgt	21	9	0	1			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr2:74757203C>T	ENST00000258080.3	+	1	700	c.70C>T	c.(70-72)Cgc>Tgc	p.R24C	HTRA2_ENST00000467961.1_Intron|AUP1_ENST00000377526.3_5'Flank|HTRA2_ENST00000352222.3_Missense_Mutation_p.R24C	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	24					adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)	p.R24C(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						GGGGGGCATTCGCTGGGGGAG	0.711																																						ENST00000258080.3																			1	Substitution - Missense(1)	p.R24C(1)	lung(1)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(70-72)Cgc>Tgc		HtrA serine peptidase 2							14	20	18					2																	74757203		2101	4177	6278	SO:0001583	missense	27429				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding	g.chr2:74757203C>T		CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"Serine peptidases / Serine peptidases", "Parkinson disease"	14348	protein-coding gene	gene with protein product		606441	"protease, serine, 25"	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.70C>T	2.37:g.74757203C>T	ENSP00000258080:p.Arg24Cys					HTRA2_ENST00000352222.3_Missense_Mutation_p.R24C|HTRA2_ENST00000467961.1_Intron	p.R24C	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN			1	700	+			24					Q9HBZ4|Q9P0Y3|Q9P0Y4	Missense_Mutation	SNP	ENST00000258080.3	37	c.70C>T	CCDS1951.1	.	.	.	.	.	.	.	.	.	.	c	9.786	1.176580	0.21704	.	.	ENSG00000115317	ENST00000258080;ENST00000352222;ENST00000437202	T;T;T	0.19669	2.13;2.13;2.13	4.8	2.93	0.34026	.	0.802333	0.11002	N	0.610376	T	0.13372	0.0324	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.18178	-1.0345	10	0.62326	D	0.03	0.267	6.5147	0.22242	0.0:0.6933:0.0:0.3067	.	24;24;24;24	A8K7G2;O43464-3;O43464-2;O43464	.;.;.;HTRA2_HUMAN	C	24;24;11	ENSP00000258080:R24C;ENSP00000312893:R24C;ENSP00000399166:R11C	ENSP00000258080:R24C	R	+	1	0	HTRA2	74610711	0.000000	0.05858	0.050000	0.19076	0.144000	0.21451	0.245000	0.18142	1.213000	0.43380	0.457000	0.33378	CGC		0.711	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2	NM_013247		20	40	0	0	0	1	0	20	40					T	74757203	C	T	74757203	3	4	1	1	0	0	0	0	1	0	0	0	7454	884	31	1	72	1	HTRA2	2	74757203	Missense_Mutation	SNP	C	TCGA-4C-A93U-01A-11D-A397-08		74757203	168442170	7	7											
C2orf15	80705	broad.mit.edu	37	chr2	99767011	99767011	+	Intron	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaattactttcacatttgttCagctatcctaatgggatttt	5	7	2	0			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr2:99767011C>G	ENST00000393483.3	-	1	225				C2ORF15_ENST00000302513.2_Nonsense_Mutation_p.S31*|C2ORF15_ENST00000409684.1_Nonsense_Mutation_p.S31*	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10						cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						CACATTTGTTCAGCTATCCTA	0.333																																						ENST00000302513.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(1)	6						c.(91-93)tCa>tGa		chromosome 2 open reading frame 15							52	55	54					2																	99767011		2203	4300	6503	SO:0001627	intron_variant	150590							g.chr2:99767011C>G	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"cancer/testis antigen 79"	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.619+4144G>C	2.37:g.99767011C>G						TSGA10_ENST00000393483.3_Intron|C2orf15_ENST00000409684.1_Nonsense_Mutation_p.S31*	p.S31*	NM_144706.2	NP_653307.1	Q8WU43	CB015_HUMAN			4	728	+			31					B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Nonsense_Mutation	SNP	ENST00000393483.3	37	c.92C>G	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	C	35	5.508228	0.96386	.	.	ENSG00000241962	ENST00000302513;ENST00000409684	.	.	.	4.85	1.92	0.25849	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.1172	2.9253	0.05783	0.1882:0.5316:0.1816:0.0986	.	.	.	.	X	31	.	ENSP00000302202:S31X	S	+	2	0	C2orf15	99133443	0.045000	0.20229	0.192000	0.23308	0.534000	0.34807	0.601000	0.24119	1.240000	0.43803	0.462000	0.41574	TCA		0.333	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911		27	55	0	0	0	1	0	27	55					G	99767011	C	G	99767011	1	3	1	0	1	0	0	0	0	0	0	0	2156	838	29	4		4	C2orf15	2	99767011	Intron	SNP	C	TCGA-4C-A93U-01A-11D-A397-08	25009808	99767011	143432362	8	8											
CNTNAP5	129684	broad.mit.edu	37	chr2	125175105	125175105	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgatttgttcgctttgtgcCcctggaatggaatcccagtg	11	11	0	0			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr2:125175105C>T	ENST00000431078.1	+	4	831	c.467C>T	c.(466-468)cCc>cTc	p.P156L		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	156	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CGCTTTGTGCCCCTGGAATGG	0.488																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(466-468)cCc>cTc		contactin associated protein-like 5							95	99	98					2																	125175105		1983	4167	6150	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125175105C>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.467C>T	2.37:g.125175105C>T	ENSP00000399013:p.Pro156Leu						p.P156L	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	4	831	+			156			F5/8 type C.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.467C>T	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.878786	0.91740	.	.	ENSG00000155052	ENST00000431078	D	0.98060	-4.69	6.17	5.29	0.74685	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.000000	0.49305	D	0.000153	D	0.99208	0.9725	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98776	1.0730	10	0.87932	D	0	.	16.4191	0.83752	0.0:0.8684:0.1316:0.0	.	156	Q8WYK1	CNTP5_HUMAN	L	156	ENSP00000399013:P156L	ENSP00000399013:P156L	P	+	2	0	CNTNAP5	124891575	1.000000	0.71417	0.825000	0.32803	0.946000	0.59487	7.351000	0.79395	1.611000	0.50210	0.655000	0.94253	CCC		0.488	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			7	17	0	0	0	1	0	7	17					T	125175105	C	T	125175105	3	4	1	1	0	0	0	0	1	0	0	0	3650	623	22	2	481	2	CNTNAP5	2	125175105	Missense_Mutation	SNP	C	TCGA-4C-A93U-01A-11D-A397-08	25408094	125175105	118024268	9	9											
TBR1	10716	broad.mit.edu	37	chr2	162274722	162274722	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctttctctaggaaatcgggtCtatatgcatccggattcccc	8	12	2	0			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr2:162274722C>G	ENST00000389554.3	+	3	1175	c.858C>G	c.(856-858)gtC>gtG	p.V286V	TBR1_ENST00000410035.1_5'UTR	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	286					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						GAAATCGGGTCTATATGCATC	0.463																																						ENST00000389554.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						c.(856-858)gtC>gtG		T-box, brain, 1							58	61	60					2																	162274722		2203	4300	6503	SO:0001819	synonymous_variant	10716					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:162274722C>G	U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"T-boxes"	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.858C>G	2.37:g.162274722C>G						TBR1_ENST00000410035.1_5'UTR	p.V286V	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN			3	1175	+			286					B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Silent	SNP	ENST00000389554.3	37	c.858C>G	CCDS33310.1																																																																																				0.463	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1	NM_006593		15	31	0	0	0	1	0	15	31					G	162274722	C	G	162274722	2	3	1	1	0	0	0	0	0	0	0	1	15644	900	32	4		4	TBR1	2	162274722	Silent	SNP	C	TCGA-4C-A93U-01A-11D-A397-08	37099617	162274722	80924651	10	10											
PLCL1	5334	broad.mit.edu	37	chr2	198949565	198949565	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaaatgggctgtcgaagcGttgaactcgatgtaagtgat	13	5	0	3	rs201197388		TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr2:198949565G>A	ENST00000428675.1	+	2	1722	c.1324G>A	c.(1324-1326)Gtt>Att	p.V442I	PLCL1_ENST00000437704.2_Missense_Mutation_p.V344I	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	442	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CTGTCGAAGCGTTGAACTCGA	0.408																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(1324-1326)Gtt>Att		phospholipase C-like 1	Quinacrine(DB01103)	G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	62	59	60		1324	1.0	1.0	2		60	0,8600		0,0,4300	no	missense	PLCL1	NM_006226.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	442/1096	198949565	1,13005	2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198949565G>A	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1324G>A	2.37:g.198949565G>A	ENSP00000402861:p.Val442Ile					PLCL1_ENST00000437704.2_Missense_Mutation_p.V344I	p.V442I	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	1722	+			442			PI-PLC X-box.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.1324G>A	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	g	2.384	-0.341507	0.05243	2.27E-4	0.0	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.55413	0.52;0.52	5.94	1.05	0.20165	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.279290	0.31031	N	0.008399	T	0.30696	0.0773	N	0.13235	0.315	0.22940	N	0.998531	B;B	0.21147	0.052;0.021	B;B	0.24006	0.05;0.05	T	0.18871	-1.0323	9	.	.	.	.	9.6222	0.39727	0.7455:0.0:0.2545:0.0	.	442;368	Q15111;B4DYZ4	PLCL1_HUMAN;.	I	442;344	ENSP00000402861:V442I;ENSP00000414138:V344I	.	V	+	1	0	PLCL1	198657810	1.000000	0.71417	0.998000	0.56505	0.621000	0.37620	2.516000	0.45520	0.161000	0.19458	-0.405000	0.06341	GTT		0.408	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		20	54	0	0	0	1	0	20	54					A	198949565	G	A	198949565	3	1	1	1	0	0	0	0	1	0	0	0	12039	1145	40	1	1330	1	PLCL1	2	198949565	Missense_Mutation	SNP	G	TCGA-4C-A93U-01A-11D-A397-08	36674843	198949565	44249808	11	11											
FN1	2335	broad.mit.edu	37	chr2	216226297	216226297	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttactctcgggaatcttctCtgtcagcctgtacatctaaa	6	11	5	0			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr2:216226297C>A	ENST00000359671.1	-	45	7407	c.7142G>T	c.(7141-7143)aGa>aTa	p.R2381I	FN1_ENST00000336916.4_Missense_Mutation_p.R2350I|FN1_ENST00000346544.3_Missense_Mutation_p.R2206I|FN1_ENST00000357009.2_3'UTR|FN1_ENST00000421182.1_Missense_Mutation_p.R2235I|FN1_ENST00000345488.5_Missense_Mutation_p.R2179I|FN1_ENST00000432072.2_Missense_Mutation_p.R2262I|FN1_ENST00000357867.4_Missense_Mutation_p.R2171I|FN1_ENST00000443816.1_Missense_Mutation_p.R2260I|FN1_ENST00000323926.6_Missense_Mutation_p.R2441I|FN1_ENST00000446046.1_Missense_Mutation_p.R2325I|FN1_ENST00000356005.4_Missense_Mutation_p.R2291I|FN1_ENST00000354785.4_Missense_Mutation_p.R2472I			P02751	FINC_HUMAN	fibronectin 1	2381					acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GGAATCTTCTCTGTCAGCCTG	0.398																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(7414-7416)aGa>aTa		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						152	158	156					2																	216226297		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216226297C>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.7142G>T	2.37:g.216226297C>A	ENSP00000352696:p.Arg2381Ile					FN1_ENST00000446046.1_Missense_Mutation_p.R2325I|FN1_ENST00000443816.1_Missense_Mutation_p.R2260I|FN1_ENST00000432072.2_Missense_Mutation_p.R2262I|FN1_ENST00000421182.1_Missense_Mutation_p.R2235I|FN1_ENST00000359671.1_Missense_Mutation_p.R2381I|FN1_ENST00000357867.4_Missense_Mutation_p.R2171I|FN1_ENST00000357009.2_3'UTR|FN1_ENST00000356005.4_Missense_Mutation_p.R2291I|FN1_ENST00000346544.3_Missense_Mutation_p.R2206I|FN1_ENST00000345488.5_Missense_Mutation_p.R2179I|FN1_ENST00000336916.4_Missense_Mutation_p.R2350I|FN1_ENST00000323926.6_Missense_Mutation_p.R2441I	p.R2472I			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	46	7784	-		Renal(323;0.127)	2381					B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.7415G>T		.	.	.	.	.	.	.	.	.	.	C	16.97	3.268343	0.59540	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923	T;T;T;T;T;T;T;T;T;T;T;T;T	0.46451	0.87;2.23;2.4;0.95;2.49;2.14;2.43;2.12;2.14;1.64;0.94;1.57;0.92	5.9	3.09	0.35607	.	0.670439	0.14972	N	0.287764	T	0.34745	0.0908	L	0.44542	1.39	0.80722	D	1	B;B;B;B;B;B;B;B;B;B;B	0.28933	0.023;0.001;0.023;0.001;0.004;0.001;0.011;0.0;0.001;0.228;0.0	B;B;B;B;B;B;B;B;B;B;B	0.31946	0.033;0.005;0.033;0.008;0.007;0.002;0.015;0.007;0.012;0.138;0.002	T	0.10405	-1.0631	10	0.39692	T	0.17	.	8.5456	0.33419	0.0:0.6346:0.2001:0.1652	.	2262;2441;2171;2291;2325;2350;2382;2235;2260;2472;2381	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;.;FINC_HUMAN	I	2235;2441;2350;2171;2472;2382;2381;2206;2179;2325;2260;2262;2291;1098	ENSP00000394423:R2235I;ENSP00000323534:R2441I;ENSP00000338200:R2350I;ENSP00000350534:R2171I;ENSP00000346839:R2472I;ENSP00000352696:R2381I;ENSP00000265312:R2206I;ENSP00000273049:R2179I;ENSP00000410422:R2325I;ENSP00000415018:R2260I;ENSP00000399538:R2262I;ENSP00000348285:R2291I;ENSP00000416139:R1098I	ENSP00000265313:R2382I	R	-	2	0	FN1	215934542	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	0.397000	0.20883	0.840000	0.34995	0.650000	0.86243	AGA		0.398	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		35	81	1	0	2.20474e-14	1	2.30728e-14	35	81					A	216226297	C	A	216226297	3	1	1	1	0	0	0	0	1	0	0	0	5962	913	32	4	22	4	FN1	2	216226297	Missense_Mutation	SNP	C	TCGA-4C-A93U-01A-11D-A397-08	17276732	216226297	26973076	12	12			1	1		2	2	17	C		3.411154e-05
FN1	2335	broad.mit.edu	37	chr2	216226313	216226313	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttctctgtcagcctgtacatCtaaaggcatgaagcactcaa	7	11	4	1			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr2:216226313C>T	ENST00000359671.1	-	45	7391	c.7126G>A	c.(7126-7128)Gat>Aat	p.D2376N	FN1_ENST00000336916.4_Missense_Mutation_p.D2345N|FN1_ENST00000346544.3_Missense_Mutation_p.D2201N|FN1_ENST00000357009.2_3'UTR|FN1_ENST00000421182.1_Missense_Mutation_p.D2230N|FN1_ENST00000345488.5_Missense_Mutation_p.D2174N|FN1_ENST00000432072.2_Missense_Mutation_p.D2257N|FN1_ENST00000357867.4_Missense_Mutation_p.D2166N|FN1_ENST00000443816.1_Missense_Mutation_p.D2255N|FN1_ENST00000323926.6_Missense_Mutation_p.D2436N|FN1_ENST00000446046.1_Missense_Mutation_p.D2320N|FN1_ENST00000356005.4_Missense_Mutation_p.D2286N|FN1_ENST00000354785.4_Missense_Mutation_p.D2467N			P02751	FINC_HUMAN	fibronectin 1	2376					acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GCCTGTACATCTAAAGGCATG	0.373																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(7399-7401)Gat>Aat		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						148	154	152					2																	216226313		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216226313C>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.7126G>A	2.37:g.216226313C>T	ENSP00000352696:p.Asp2376Asn					FN1_ENST00000446046.1_Missense_Mutation_p.D2320N|FN1_ENST00000443816.1_Missense_Mutation_p.D2255N|FN1_ENST00000432072.2_Missense_Mutation_p.D2257N|FN1_ENST00000421182.1_Missense_Mutation_p.D2230N|FN1_ENST00000359671.1_Missense_Mutation_p.D2376N|FN1_ENST00000357867.4_Missense_Mutation_p.D2166N|FN1_ENST00000357009.2_3'UTR|FN1_ENST00000356005.4_Missense_Mutation_p.D2286N|FN1_ENST00000346544.3_Missense_Mutation_p.D2201N|FN1_ENST00000345488.5_Missense_Mutation_p.D2174N|FN1_ENST00000336916.4_Missense_Mutation_p.D2345N|FN1_ENST00000323926.6_Missense_Mutation_p.D2436N	p.D2467N			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	46	7768	-		Renal(323;0.127)	2376					B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.7399G>A		.	.	.	.	.	.	.	.	.	.	C	24.2	4.500791	0.85176	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923	T;T;T;T;T;T;T;T;T;T;T;T;T	0.53640	0.61;1.99;2.17;0.71;2.27;1.93;2.13;1.9;1.88;1.38;0.69;1.34;0.72	6.16	5.28	0.74379	.	0.336502	0.28927	N	0.013695	T	0.66247	0.2770	M	0.65975	2.015	0.80722	D	1	B;B;P;D;D;D;D;D;D;P;P	0.71674	0.421;0.214;0.649;0.986;0.976;0.984;0.997;0.998;0.998;0.473;0.949	B;B;B;D;P;P;D;D;D;B;P	0.85130	0.322;0.187;0.322;0.909;0.857;0.879;0.993;0.997;0.997;0.277;0.776	T	0.69401	-0.5155	10	0.72032	D	0.01	.	13.1509	0.59488	0.1277:0.7495:0.1228:0.0	.	2257;2436;2166;2286;2320;2345;2377;2230;2255;2467;2376	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;.;FINC_HUMAN	N	2230;2436;2345;2166;2467;2377;2376;2201;2174;2320;2255;2257;2286;1093	ENSP00000394423:D2230N;ENSP00000323534:D2436N;ENSP00000338200:D2345N;ENSP00000350534:D2166N;ENSP00000346839:D2467N;ENSP00000352696:D2376N;ENSP00000265312:D2201N;ENSP00000273049:D2174N;ENSP00000410422:D2320N;ENSP00000415018:D2255N;ENSP00000399538:D2257N;ENSP00000348285:D2286N;ENSP00000416139:D1093N	ENSP00000265313:D2377N	D	-	1	0	FN1	215934558	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.617000	0.61204	1.591000	0.50007	0.650000	0.86243	GAT		0.373	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		35	77	0	0	0	1	0	35	77					T	216226313	C	T	216226313	3	4	1	1	0	0	0	0	1	0	0	0	5962	913	32	2	38	2	FN1	2	216226313	Missense_Mutation	SNP	C	TCGA-4C-A93U-01A-11D-A397-08	16	216226313	26973060	13	13			1	1		2	2	17	C		3.411154e-05
FGD5	152273	broad.mit.edu	37	chr3	14862664	14862664	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cttccaggattctggaagttGaccggagaagcctcagcaac	11	11	2	2			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr3:14862664G>C	ENST00000285046.5	+	1	2196	c.2086G>C	c.(2086-2088)Gac>Cac	p.D696H	FGD5_ENST00000543601.1_Missense_Mutation_p.D455H	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	696					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TCTGGAAGTTGACCGGAGAAG	0.527																																						ENST00000285046.5																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(2086-2088)Gac>Cac		FYVE, RhoGEF and PH domain containing 5							43	43	43					3																	14862664		1891	4120	6011	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14862664G>C	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.2086G>C	3.37:g.14862664G>C	ENSP00000285046:p.Asp696His					FGD5_ENST00000543601.1_Missense_Mutation_p.D455H	p.D696H	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN			1	2196	+			696					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.2086G>C	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.505842	0.64410	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.78481	-1.18;-0.99	5.03	4.14	0.48551	.	0.191205	0.36444	N	0.002593	D	0.85379	0.5683	M	0.73598	2.24	0.58432	D	0.999999	D;D	0.71674	0.994;0.998	P;P	0.60473	0.845;0.875	D	0.87013	0.2124	10	0.66056	D	0.02	-34.1487	14.0176	0.64533	0.074:0.0:0.926:0.0	.	455;696	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	H	696;455	ENSP00000285046:D696H;ENSP00000445949:D455H	ENSP00000285046:D696H	D	+	1	0	FGD5	14837668	1.000000	0.71417	0.769000	0.31535	0.548000	0.35241	6.185000	0.72013	1.224000	0.43551	0.591000	0.81541	GAC		0.527	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		15	31	0	0	0	1	0	15	31					C	14862664	G	C	14862664	3	2	1	1	0	0	0	0	1	0	0	0	5836	1290	45	4	2088	4	FGD5	3	14862664	Missense_Mutation	SNP	G	TCGA-4C-A93U-01A-11D-A397-08		14862664	183159766	14	14											
GBE1	2632	broad.mit.edu	37	chr3	81754624	81754624	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtaagaaaaactccttctGctcccggggcccattctttg	8	13	2	1			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr3:81754624G>T	ENST00000429644.2	-	2	927	c.284C>A	c.(283-285)gCa>gAa	p.A95E	GBE1_ENST00000489715.1_Missense_Mutation_p.A54E	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	95					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		AACTCCTTCTGCTCCCGGGGC	0.343									Glycogen Storage Disease, type IV																													ENST00000429644.2																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(283-285)gCa>gAa		glucan (1,4-alpha-), branching enzyme 1							48	45	46					3																	81754624		1823	4076	5899	SO:0001583	missense	2632	Glycogen Storage Disease, type IV	Familial Cancer Database	Andersen Disease, Brancher deficiency	glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr3:81754624G>T		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"glycogen branching enzyme", "Andersen disease", "glycogen storage disease type IV"	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.284C>A	3.37:g.81754624G>T	ENSP00000410833:p.Ala95Glu					GBE1_ENST00000489715.1_Missense_Mutation_p.A54E	p.A95E	NM_000158.3	NP_000149.3	Q04446	GLGB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)	2	927	-		Lung NSC(201;0.0117)	95					B3KWV3|Q96EN0	Missense_Mutation	SNP	ENST00000429644.2	37	c.284C>A	CCDS54612.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.587806	0.86851	.	.	ENSG00000114480	ENST00000429644;ENST00000264326;ENST00000489715	T;T	0.52754	0.65;0.74	5.95	5.95	0.96441	Immunoglobulin E-set (1);Glycoside hydrolase, family 13, N-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.82042	0.4951	H	0.97806	4.08	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87940	0.2716	10	0.87932	D	0	-20.6647	19.9916	0.97368	0.0:0.0:1.0:0.0	.	54;95	E9PGM4;Q04446	.;GLGB_HUMAN	E	95;146;54	ENSP00000410833:A95E;ENSP00000419638:A54E	ENSP00000264326:A146E	A	-	2	0	GBE1	81837314	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	8.158000	0.89649	2.821000	0.97095	0.650000	0.86243	GCA		0.343	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2			3	5	1	0	0.115264	1	0.115264	3	5					T	81754624	G	T	81754624	3	4	1	1	0	0	0	0	1	0	0	0	6270	1319	46	4	1884	4	GBE1	3	81754624	Missense_Mutation	SNP	G	TCGA-4C-A93U-01A-11D-A397-08	66891960	81754624	116267806	15	15											
H1FX	8971	broad.mit.edu	37	chr3	129034703	129034703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caccttcttggccattccctCggcggtcgtcactggcaggg	12	15	2	0			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr3:129034703C>T	ENST00000333762.4	-	1	417	c.43G>A	c.(43-45)Gag>Aag	p.E15K	H1FX-AS1_ENST00000511998.1_RNA|H1FX-AS1_ENST00000383461.2_RNA|H1FX-AS1_ENST00000433902.2_RNA|H1FX-AS1_ENST00000502789.2_RNA|H1FX-AS1_ENST00000537780.1_RNA	NM_006026.3	NP_006017.1	Q92522	H1X_HUMAN	H1 histone family, member X	15					nucleosome assembly (GO:0006334)	nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			kidney(1)|ovary(1)|urinary_tract(2)	4						GCCATTCCCTCGGCGGTCGTC	0.652																																						ENST00000333762.4																			0				kidney(1)|ovary(1)|urinary_tract(2)	4						c.(43-45)Gag>Aag		H1 histone family, member X							13	12	12					3																	129034703		2202	4296	6498	SO:0001583	missense	8971				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr3:129034703C>T	D64142	CCDS3057.1	3q21.3	2011-08-16			ENSG00000184897	ENSG00000184897		"Histones / Replication-independent"	4722	protein-coding gene	gene with protein product		602785				8964515, 9439656	Standard	NM_006026		Approved	MGC15959, MGC8350, H1X	uc003elx.3	Q92522	OTTHUMG00000159450	ENST00000333762.4:c.43G>A	3.37:g.129034703C>T	ENSP00000329662:p.Glu15Lys					H1FX-AS1_ENST00000511998.1_RNA|H1FX-AS1_ENST00000433902.2_RNA	p.E15K	NM_006026.3	NP_006017.1	Q92522	H1X_HUMAN			1	417	-			15						Missense_Mutation	SNP	ENST00000333762.4	37	c.43G>A	CCDS3057.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.331941	0.24167	.	.	ENSG00000184897	ENST00000333762	T	0.05319	3.46	3.42	2.53	0.30540	.	0.760678	0.10487	U	0.668788	T	0.02610	0.0079	N	0.03608	-0.345	0.24424	N	0.99461	B	0.25955	0.138	B	0.09377	0.004	T	0.47182	-0.9137	10	0.12103	T	0.63	-10.5663	8.4275	0.32737	0.0:0.8753:0.0:0.1247	.	15	Q92522	H1X_HUMAN	K	15	ENSP00000329662:E15K	ENSP00000329662:E15K	E	-	1	0	H1FX	130517393	0.974000	0.33945	0.012000	0.15200	0.002000	0.02628	0.878000	0.28126	0.410000	0.25675	0.561000	0.74099	GAG		0.652	H1FX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355455.2	NM_006026		3	9	0	0	0	1	0	3	9					T	129034703	C	T	129034703	3	4	1	1	0	0	0	0	1	0	0	0	6923	893	31	1	602	1	H1FX	3	129034703	Missense_Mutation	SNP	C	TCGA-4C-A93U-01A-11D-A397-08	47280079	129034703	68987727	16	16											
DNAJC13	23317	broad.mit.edu	37	chr3	132231901	132231901	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagttgatattttctcttctCcgagttcatggagctggtca	9	8	4	1			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr3:132231901C>T	ENST00000260818.6	+	45	5591	c.5343C>T	c.(5341-5343)ctC>ctT	p.L1781L		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1781					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TTTCTCTTCTCCGAGTTCATG	0.383																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(5341-5343)ctC>ctT		DnaJ (Hsp40) homolog, subfamily C, member 13							158	154	156					3																	132231901		2203	4300	6503	SO:0001819	synonymous_variant	23317						heat shock protein binding	g.chr3:132231901C>T	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.5343C>T	3.37:g.132231901C>T							p.L1781L	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			45	5591	+			1781					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Silent	SNP	ENST00000260818.6	37	c.5343C>T	CCDS33857.1																																																																																				0.383	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		18	50	0	0	0	1	0	18	50					T	132231901	C	T	132231901	2	4	1	1	0	0	0	0	0	0	0	1	4632	842	30	2		2	DNAJC13	3	132231901	Silent	SNP	C	TCGA-4C-A93U-01A-11D-A397-08	3197198	132231901	65790529	17	17											
STOX2	56977	broad.mit.edu	37	chr4	184922519	184922519	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtctcccatcagtcagtctCagtttattccactcggggag	9	12	4	0			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr4:184922519C>T	ENST00000308497.4	+	2	1643	c.208C>T	c.(208-210)Cag>Tag	p.Q70*	STOX2_ENST00000511250.1_3'UTR|STOX2_ENST00000438269.1_Nonsense_Mutation_p.Q70*	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	70					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CAGTCAGTCTCAGTTTATTCC	0.488																																						ENST00000308497.4																			0				breast(1)|endometrium(7)|lung(6)	14						c.(208-210)Cag>Tag		storkhead box 2							105	99	101					4																	184922519		2013	4176	6189	SO:0001587	stop_gained	56977				embryo development|maternal placenta development			g.chr4:184922519C>T	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.208C>T	4.37:g.184922519C>T	ENSP00000311257:p.Gln70*					STOX2_ENST00000438269.1_Nonsense_Mutation_p.Q70*|STOX2_ENST00000511250.1_3'UTR	p.Q70*	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)	2	1643	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	70					A6H8U4|Q9NPS8	Nonsense_Mutation	SNP	ENST00000308497.4	37	c.208C>T	CCDS47167.1	.	.	.	.	.	.	.	.	.	.	C	36	5.780752	0.96929	.	.	ENSG00000173320	ENST00000308497;ENST00000438269;ENST00000512520	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-24.5822	20.3539	0.98825	0.0:1.0:0.0:0.0	.	.	.	.	X	70;70;8	.	ENSP00000311257:Q70X	Q	+	1	0	STOX2	185159513	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.809000	0.86057	2.826000	0.97356	0.655000	0.94253	CAG		0.488	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		15	36	0	0	0	1	0	15	36					T	184922519	C	T	184922519	4	4	1	1	0	0	0	0	0	1	0	0	15319	827	29	2	214	2	STOX2	4	184922519	Nonsense_Mutation	SNP	C	TCGA-4C-A93U-01A-11D-A397-08		184922519	6231757	18	18											
CCDC110	256309	broad.mit.edu	37	chr4	186366679	186366680	+	Frame_Shift_Ins	INS	-	-	T													tgatgcttgagagttctgtcINStttaactttgaaataaccta							TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr4:186366679_186366680insT	ENST00000307588.3	-	7	2553_2554	c.2478_2479insA	c.(2476-2481)aaagacfs	p.D827fs	C4orf47_ENST00000378850.4_Intron|CCDC110_ENST00000393540.3_Frame_Shift_Ins_p.D790fs	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	827						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		AGAGTTCTGTCTTTAACTTTGA	0.302																																						ENST00000307588.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30						c.(2476-2481)aaacagfs		coiled-coil domain containing 110																																				SO:0001589	frameshift_variant	256309					nucleus		g.chr4:186366679_186366680insT	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"cancer/testis antigen 52"	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.2479dupA	4.37:g.186366682_186366682dupT	ENSP00000306776:p.Asp827fs					C4orf47_ENST00000378850.4_Intron|CCDC110_ENST00000393540.3_Frame_Shift_Ins_p.Q790fs	p.Q827fs	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	7	2553_2554	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	827					Q86YI9|Q8N7W0	Frame_Shift_Ins	INS	ENST00000307588.3	37	c.2478_2479insA	CCDS3843.1																																																																																				0.302	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		21	48						21	48	---	---	---	---	T	186366680	-	T	186366679	7	5	1	1	0	1	1	0	0	0	0	0	2747	913	32	0	26	0	CCDC110	4	186366679	Frame_Shift_Ins	INS	-	TCGA-4C-A93U-01A-11D-A397-08	1444160	186366679	4787597	19	19											
RANBP3L	202151	broad.mit.edu	37	chr5	36253804	36253804	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatcagtagctgttattcgtAcatttttgtggtttgctctt	8	6	2	0			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr5:36253804A>T	ENST00000296604.3	-	12	1597	c.1112T>A	c.(1111-1113)gTa>gAa	p.V371E	RANBP3L_ENST00000502994.1_Missense_Mutation_p.V396E	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	371	RanBD1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				intracellular transport (GO:0046907)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			TGTTATTCGTACATTTTTGTG	0.348																																						ENST00000296604.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16						c.(1111-1113)gTa>gAa		RAN binding protein 3-like							179	164	169					5																	36253804		2203	4299	6502	SO:0001583	missense	202151				intracellular transport			g.chr5:36253804A>T	BC047660	CCDS3918.1, CCDS54843.1	5p13.2	2008-02-05			ENSG00000164188	ENSG00000164188			26353	protein-coding gene	gene with protein product						12477932	Standard	NM_145000		Approved	FLJ25422	uc011cow.2	Q86VV4	OTTHUMG00000131110	ENST00000296604.3:c.1112T>A	5.37:g.36253804A>T	ENSP00000296604:p.Val371Glu					RANBP3L_ENST00000502994.1_Missense_Mutation_p.V396E	p.V371E	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)		12	1597	-	all_lung(31;4.52e-05)		371			RanBD1.		B7Z866|E9PGP9|Q96LK2	Missense_Mutation	SNP	ENST00000296604.3	37	c.1112T>A	CCDS3918.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.309200	0.81247	.	.	ENSG00000164188	ENST00000296604;ENST00000502994	T;T	0.41400	1.0;1.0	5.18	5.18	0.71444	Pleckstrin homology-type (1);Ran binding protein 1 (3);	0.245190	0.28482	N	0.015187	T	0.51856	0.1699	M	0.84219	2.685	0.80722	D	1	P;P	0.41546	0.754;0.662	B;B	0.42138	0.366;0.377	T	0.61758	-0.6997	10	0.87932	D	0	-2.9276	14.296	0.66314	1.0:0.0:0.0:0.0	.	396;371	E9PGP9;Q86VV4	.;RNB3L_HUMAN	E	371;396	ENSP00000296604:V371E;ENSP00000421853:V396E	ENSP00000296604:V371E	V	-	2	0	RANBP3L	36289561	1.000000	0.71417	0.971000	0.41717	0.984000	0.73092	8.330000	0.90019	2.084000	0.62774	0.455000	0.32223	GTA		0.348	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253773.2	NM_145000		19	44	0	0	0	1	0	19	44					T	36253804	A	T	36253804	3	4	1	1	0	0	0	0	1	0	0	0	13030	391	14	5	297	5	RANBP3L	5	36253804	Missense_Mutation	SNP	A	TCGA-4C-A93U-01A-11D-A397-08		36253804	144661456	20	20											
RICTOR	253260	broad.mit.edu	37	chr5	38944564	38944564	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcacgttaaaagcccagtctCatgacatttagttgaaactg	7	9	2	2			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr5:38944564C>T	ENST00000357387.3	-	36	4927	c.4897G>A	c.(4897-4899)Gag>Aag	p.E1633K	RICTOR_ENST00000296782.5_Missense_Mutation_p.E1657K	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2									p.E1633Q(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AGCCCAGTCTCATGACATTTA	0.323																																						ENST00000357387.3																			1	Substitution - Missense(1)	p.E1633Q(1)	lung(1)	NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75						c.(4897-4899)Gag>Aag		RPTOR independent companion of MTOR, complex 2							117	115	116					5																	38944564		2203	4300	6503	SO:0001583	missense	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38944564C>T		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"rapamycin-insensitive companion of mTOR", "pianissimo"	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.4897G>A	5.37:g.38944564C>T	ENSP00000349959:p.Glu1633Lys					RICTOR_ENST00000296782.5_Missense_Mutation_p.E1657K	p.E1633K	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN			36	4927	-	all_lung(31;0.000396)		1633						Missense_Mutation	SNP	ENST00000357387.3	37	c.4897G>A	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875346	0.91664	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.46451	0.88;0.87	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.54711	0.1875	L	0.27053	0.805	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.76071	0.987;0.987	T	0.58662	-0.7597	10	0.87932	D	0	-19.5643	19.4767	0.94992	0.0:1.0:0.0:0.0	.	1633;1657	Q6R327;Q6R327-3	RICTR_HUMAN;.	K	1633;1657	ENSP00000349959:E1633K;ENSP00000296782:E1657K	ENSP00000296782:E1657K	E	-	1	0	RICTOR	38980321	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.431000	0.66507	2.601000	0.87937	0.563000	0.77884	GAG		0.323	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		58	152	0	0	0	1	0	58	152					T	38944564	C	T	38944564	3	4	1	1	0	0	0	0	1	0	0	0	13358	835	29	2	241	2	RICTOR	5	38944564	Missense_Mutation	SNP	C	TCGA-4C-A93U-01A-11D-A397-08	2690760	38944564	141970696	21	21											
MAP3K1	4214	broad.mit.edu	37	chr5	56178173	56178173	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttccccagtctttactcagtCaagacccttgccctccagta	5	16	3	1			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr5:56178173C>G	ENST00000399503.3	+	14	3146	c.3146C>G	c.(3145-3147)tCa>tGa	p.S1049*		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1049					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TTTACTCAGTCAAGACCCTTG	0.438																																						ENST00000399503.3																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(3145-3147)tCa>tGa		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase							75	73	73					5																	56178173		1876	4090	5966	SO:0001587	stop_gained	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56178173C>G	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.3146C>G	5.37:g.56178173C>G	ENSP00000382423:p.Ser1049*						p.S1049*	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	14	3146	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	1049						Nonsense_Mutation	SNP	ENST00000399503.3	37	c.3146C>G	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	C	39	7.691634	0.98434	.	.	ENSG00000095015	ENST00000399503	.	.	.	5.86	5.86	0.93980	.	0.136871	0.47455	D	0.000240	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.1772	0.98182	0.0:1.0:0.0:0.0	.	.	.	.	X	1049	.	ENSP00000382423:S1049X	S	+	2	0	MAP3K1	56213930	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.473000	0.73572	2.778000	0.95560	0.655000	0.94253	TCA		0.438	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		23	33	0	0	0	1	0	23	33					G	56178173	C	G	56178173	4	3	1	1	0	0	0	0	0	1	0	0	9243	838	29	4	3200	4	MAP3K1	5	56178173	Nonsense_Mutation	SNP	C	TCGA-4C-A93U-01A-11D-A397-08	17233609	56178173	124737087	22	22											
RBM22	55696	broad.mit.edu	37	chr5	150076426	150076426	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtcatctttaaaagacaatCctgcgtcacgaacctggatg	8	10	3	1			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr5:150076426C>T	ENST00000199814.4	-	5	420	c.299G>A	c.(298-300)gGa>gAa	p.G100E	RBM22_ENST00000447771.2_Missense_Mutation_p.G51E|RBM22_ENST00000540000.1_Missense_Mutation_p.G51E	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	100					cellular response to drug (GO:0035690)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of RNA splicing (GO:0033120)|protein import into nucleus, translocation (GO:0000060)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|snRNA binding (GO:0017069)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAAGACAATCCTGCGTCACG	0.388																																						ENST00000199814.4																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17						c.(298-300)gGa>gAa		RNA binding motif protein 22							78	79	79					5																	150076426		2203	4300	6503	SO:0001583	missense	55696				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding	g.chr5:150076426C>T	AL136933	CCDS34278.1	5q33.1	2013-02-12			ENSG00000086589	ENSG00000086589		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	25503	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 47"	612430				20013661, 19133299	Standard	NM_018047		Approved	FLJ10290, ZC3H16, fSAP47, Cwc2	uc031slu.1	Q9NW64	OTTHUMG00000163589	ENST00000199814.4:c.299G>A	5.37:g.150076426C>T	ENSP00000199814:p.Gly100Glu					RBM22_ENST00000540000.1_Missense_Mutation_p.G51E|RBM22_ENST00000447771.2_Missense_Mutation_p.G51E	p.G100E	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	420	-		Medulloblastoma(196;0.167)	100					A6NDM5|B4DLI9|O95607	Missense_Mutation	SNP	ENST00000199814.4	37	c.299G>A	CCDS34278.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.110687	0.56398	.	.	ENSG00000086589	ENST00000199814;ENST00000540000;ENST00000447771;ENST00000518917;ENST00000521464	T;T;T;T;T	0.03035	4.07;4.07;4.07;4.07;4.07	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.02455	0.0075	N	0.02539	-0.55	0.80722	D	1	B	0.22983	0.078	B	0.15484	0.013	T	0.59736	-0.7398	10	0.54805	T	0.06	-6.3701	18.964	0.92687	0.0:1.0:0.0:0.0	.	100	Q9NW64	RBM22_HUMAN	E	100;51;51;93;219	ENSP00000199814:G100E;ENSP00000441594:G51E;ENSP00000412118:G51E;ENSP00000428154:G93E;ENSP00000430946:G219E	ENSP00000199814:G100E	G	-	2	0	RBM22	150056619	1.000000	0.71417	0.964000	0.40570	0.927000	0.56198	5.874000	0.69652	2.480000	0.83734	0.655000	0.94253	GGA		0.388	RBM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374431.2	NM_018047		18	39	0	0	0	1	0	18	39					T	150076426	C	T	150076426	3	4	1	1	0	0	0	0	1	0	0	0	13122	855	30	2	991	2	RBM22	5	150076426	Missense_Mutation	SNP	C	TCGA-4C-A93U-01A-11D-A397-08	93898253	150076426	30838834	23	23											
HIST1H3H	8357	broad.mit.edu	37	chr6	27778092	27778092	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatcgcgcaggacttcaagAccgacttgcgcttccagagc	11	13	1	3			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr6:27778092A>G	ENST00000369163.2	+	1	251	c.241A>G	c.(241-243)Acc>Gcc	p.T81A	HIST1H2BL_ENST00000377401.2_5'Flank	NM_003536.2	NP_003527.1	P68431	H31_HUMAN	histone cluster 1, H3h	81					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3)	10						GGACTTCAAGACCGACTTGCG	0.612																																						ENST00000369163.2																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3)	10						c.(241-243)Acc>Gcc		histone cluster 1, H3h							71	65	67					6																	27778092		2203	4300	6503	SO:0001583	missense	8357				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27778092A>G	Z83735	CCDS4627.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000203813	ENSG00000278828		"Histones / Replication-dependent"	4775	protein-coding gene	gene with protein product		602818	"H3 histone family, member K", "histone 1, H3h"	H3FK		9439656, 12408966	Standard	NM_003536		Approved	H3/k, H3F1K	uc003njm.3	P68431	OTTHUMG00000014483	ENST00000369163.2:c.241A>G	6.37:g.27778092A>G	ENSP00000358160:p.Thr81Ala						p.T81A	NM_003536.2	NP_003527.1	P68431	H31_HUMAN			1	251	+			81					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000369163.2	37	c.241A>G	CCDS4627.1	.	.	.	.	.	.	.	.	.	.	.	13.33	2.205816	0.39003	.	.	ENSG00000203813	ENST00000369163	T	0.42900	0.96	4.33	4.33	0.51752	.	.	.	.	.	T	0.48095	0.1481	.	.	.	0.42463	D	0.992799	.	.	.	.	.	.	T	0.55398	-0.8147	6	0.87932	D	0	.	13.3752	0.60734	1.0:0.0:0.0:0.0	.	.	.	.	A	81	ENSP00000358160:T81A	ENSP00000358160:T81A	T	+	1	0	HIST1H3H	27886071	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	6.838000	0.75359	1.888000	0.54679	0.533000	0.62120	ACC		0.612	HIST1H3H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040151.1	NM_003536		22	30	0	0	0	1	0	22	30					G	27778092	A	G	27778092	3	3	1	1	0	0	0	0	1	0	0	0	7162	275	10	3	243	3	HIST1H3H	6	27778092	Missense_Mutation	SNP	A	TCGA-4C-A93U-01A-11D-A397-08		27778092	143336975	24	24											
MDC1	9656	broad.mit.edu	37	chr6	30671451	30671452	+	Frame_Shift_Del	DEL	CT	CT	-													ttcctcttccttgataatcaCtgtcttctgggagacttccc					rs77465266	byFrequency	TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr6:30671451_30671452delCT	ENST00000376406.3	-	10	6155_6156	c.5508_5509delAG	c.(5506-5511)acagtgfs	p.V1837fs	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Frame_Shift_Del_p.V1573fs	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1837	Required for nuclear localization (NLS2).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						TTGATAATCACTGTCTTCTGGG	0.505								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(5506-5511)actgfs	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1																																				SO:0001589	frameshift_variant	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30671451_30671452delCT	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.5508_5509delAG	6.37:g.30671451_30671452delCT	ENSP00000365588:p.Val1837fs					MDC1_ENST00000376405.2_Frame_Shift_Del_p.TV1572fs|MDC1-AS1_ENST00000442150.1_RNA	p.TV1836fs	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			10	6155_6156	-			1836			Required for nuclear localization (NLS2).		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Frame_Shift_Del	DEL	ENST00000376406.3	37	c.5508_5509delAG	CCDS34384.1																																																																																				0.505	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		61	99						61	99	---	---	---	---	-	30671452	CT	-	30671451	7	5	1	1	0	1	0	1	0	0	0	0	9403	565	20	0	784	0	MDC1	6	30671451	Frame_Shift_Del	DEL	CT	TCGA-4C-A93U-01A-11D-A397-08	2893359	30671451	140443616	25	25											
AIM1	202	broad.mit.edu	37	chr6	106967568	106967568	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acagcaaaagccttgtacttGaaaatgtaaccgatacagca	7	9	0	1			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr6:106967568G>A	ENST00000369066.3	+	2	1748	c.1261G>A	c.(1261-1263)Gaa>Aaa	p.E421K		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CCTTGTACTTGAAAATGTAAC	0.473																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(1261-1263)Gaa>Aaa		absent in melanoma 1							94	92	93					6																	106967568		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106967568G>A	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"suppression of tumorigenicity 4", "beta-gamma crystallin domain containing 1"	601797	"suppression of tumorigenicity 4 (malignant melanoma)"	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.1261G>A	6.37:g.106967568G>A	ENSP00000358062:p.Glu421Lys						p.E421K	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	2	1748	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	421					Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.1261G>A	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.861540	0.51482	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.73047	-0.71	5.7	3.9	0.45041	.	0.297039	0.24363	N	0.039180	T	0.46210	0.1381	L	0.56769	1.78	0.24949	N	0.991804	B	0.14438	0.01	B	0.12837	0.008	T	0.47636	-0.9102	10	0.52906	T	0.07	.	8.1851	0.31335	0.1869:0.0:0.8131:0.0	.	421	Q9Y4K1	AIM1_HUMAN	K	829;421	ENSP00000358062:E421K	ENSP00000285105:E829K	E	+	1	0	AIM1	107074261	0.089000	0.21612	0.190000	0.23270	0.206000	0.24218	1.531000	0.36018	0.737000	0.32582	0.655000	0.94253	GAA		0.473	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			18	51	0	0	0	1	0	18	51					A	106967568	G	A	106967568	3	1	1	1	0	0	0	0	1	0	0	0	430	1291	45	2	1267	2	AIM1	6	106967568	Missense_Mutation	SNP	G	TCGA-4C-A93U-01A-11D-A397-08	76296117	106967568	64147499	26	26											
THSD7A	221981	broad.mit.edu	37	chr7	11457095	11457095	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accaaaacacattgggtccaTggaccccattcagatatcac	6	13	2	1			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr7:11457095T>A	ENST00000423059.4	-	17	3770	c.3519A>T	c.(3517-3519)ccA>ccT	p.P1173P	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1173	TSP type-1 11. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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)		ATTGGGTCCATGGACCCCATT	0.388										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.(3517-3519)ccA>ccT		thrombospondin, type I, domain containing 7A							63	58	60					7																	11457095		1862	4106	5968	SO:0001819	synonymous_variant	221981					integral to membrane		g.chr7:11457095T>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.3519A>T	7.37:g.11457095T>A		HNSCC(18;0.044)				AC004538.3_ENST00000445839.1_RNA	p.P1173P	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	17	3770	-			1173			TSP type-1 11.			Silent	SNP	ENST00000423059.4	37	c.3519A>T	CCDS47543.1																																																																																				0.388	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		3	20	0	0	0	1	0	3	20					A	11457095	T	A	11457095	2	1	1	1	0	0	0	0	0	0	0	1	15876	1451	51	5		5	THSD7A	7	11457095	Silent	SNP	T	TCGA-4C-A93U-01A-11D-A397-08		11457095	147681568	27	27											
MEOX2	4223	broad.mit.edu	37	chr7	15725715	15725715	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ctggaggcagaggctgtgccGagccgcactcggtggggaag	19	10	0	1	rs373584566		TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr7:15725715G>C	ENST00000262041.5	-	1	722	c.313C>G	c.(313-315)Cgg>Ggg	p.R105G	AC005550.5_ENST00000438923.1_lincRNA|AC005550.4_ENST00000442176.1_lincRNA	NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	105					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|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 positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		AGGCTGTGCCGAGCCGCACTC	0.662																																					Esophageal Squamous(140;197 1769 16409 18257 29929)	ENST00000262041.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(313-315)Cgg>Ggg		mesenchyme homeobox 2		G	GLY/ARG	0,4378		0,0,2189	13	16	15		313	5.3	1.0	7		15	1,8551		0,1,4275	no	missense	MEOX2	NM_005924.4	125	0,1,6464	CC,CG,GG		0.0117,0.0,0.0077	probably-damaging	105/305	15725715	1,12929	2189	4276	6465	SO:0001583	missense	4223				blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:15725715G>C		CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"Homeoboxes / ANTP class : HOXL subclass"	7014	protein-coding gene	gene with protein product	"growth arrest-specific homeobox"	600535	"mesenchyme homeo box 2 (growth arrest-specific homeo box)", "mesenchyme homeobox 2 (growth arrest-specific homeo box)"	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.313C>G	7.37:g.15725715G>C	ENSP00000262041:p.Arg105Gly						p.R105G	NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)	1	722	-			105					B2R8I7|O75263|Q9UPL6	Missense_Mutation	SNP	ENST00000262041.5	37	c.313C>G	CCDS34605.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315664	0.60524	0.0	1.17E-4	ENSG00000106511	ENST00000262041	D	0.89939	-2.59	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000001	D	0.88883	0.6558	N	0.25647	0.755	0.53688	D	0.999971	D	0.63880	0.993	D	0.71184	0.972	D	0.85372	0.1114	10	0.18710	T	0.47	-16.478	12.2169	0.54412	0.0:0.0:0.7112:0.2888	.	105	P50222	MEOX2_HUMAN	G	105	ENSP00000262041:R105G	ENSP00000262041:R105G	R	-	1	2	MEOX2	15692240	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.649000	0.46656	2.486000	0.83907	0.655000	0.94253	CGG		0.662	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326058.2	NM_005924		6	10	0	0	0	1	0	6	10					C	15725715	G	C	15725715	3	2	1	1	0	0	0	0	1	0	0	0	9474	1057	37	4	613	4	MEOX2	7	15725715	Missense_Mutation	SNP	G	TCGA-4C-A93U-01A-11D-A397-08	4268620	15725715	143412948	28	28											
ARPC1B	10095	broad.mit.edu	37	chr7	98984314	98984314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctccccttcagagattgCcatctgccccaacaaccatg	5	17	3	1			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr7:98984314C>T	ENST00000451682.1	+	5	380	c.71C>T	c.(70-72)gCc>gTc	p.A24V	ARPC1A_ENST00000432884.2_Silent_p.C339C|ARPC1B_ENST00000474880.1_3'UTR|ARPC1B_ENST00000252725.5_Missense_Mutation_p.A24V			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	24					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TCAGAGATTGCCATCTGCCCC	0.557																																						ENST00000451682.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11						c.(70-72)gCc>gTc		actin related protein 2/3 complex, subunit 1B, 41kDa							192	160	171					7																	98984314		2203	4300	6503	SO:0001583	missense	10095				cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton	g.chr7:98984314C>T	AF006084	CCDS5661.1	7q22.1	2013-03-14	2002-08-29		ENSG00000130429	ENSG00000130429		"Actin related protein 2/3 complex subunits", "WD repeat domain containing"	704	protein-coding gene	gene with protein product	"ARP2/3 protein complex subunit p41", "actin related protein 2/3 complex, subunit 1A (41 kD)"	604223	"actin related protein 2/3 complex, subunit 1B (41 kD)"			9230079, 9359840	Standard	NM_005720		Approved	ARC41, p40-ARC, p41-ARC	uc003upz.3	O15143	OTTHUMG00000154552	ENST00000451682.1:c.71C>T	7.37:g.98984314C>T	ENSP00000389631:p.Ala24Val					ARPC1A_ENST00000432884.2_Silent_p.C339C|ARPC1B_ENST00000252725.5_Missense_Mutation_p.A24V|ARPC1B_ENST00000474880.1_3'UTR	p.A24V			O15143	ARC1B_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		5	380	+	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		24					Q9BU00	Missense_Mutation	SNP	ENST00000451682.1	37	c.71C>T	CCDS5661.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312596	0.81358	.	.	ENSG00000130429	ENST00000443222;ENST00000414376;ENST00000252725;ENST00000455009;ENST00000418347;ENST00000417330;ENST00000431816;ENST00000427217;ENST00000458033;ENST00000451682	T;T;T;T;T;T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58	5.17	5.17	0.71159	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.88588	0.6477	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.90764	0.4667	10	0.56958	D	0.05	-39.3916	19.0296	0.92950	0.0:1.0:0.0:0.0	.	24;24	A4D275;O15143	.;ARC1B_HUMAN	V	24	ENSP00000413173:A24V;ENSP00000398620:A24V;ENSP00000252725:A24V;ENSP00000410238:A24V;ENSP00000413067:A24V;ENSP00000403324:A24V;ENSP00000398110:A24V;ENSP00000403211:A24V;ENSP00000388802:A24V;ENSP00000389631:A24V	ENSP00000252725:A24V	A	+	2	0	ARPC1B	98822250	1.000000	0.71417	1.000000	0.80357	0.413000	0.31143	7.818000	0.86416	2.577000	0.86979	0.561000	0.74099	GCC		0.557	ARPC1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335894.1	NM_005720		4	150	0	0	0	1	0	4	150					T	98984314	C	T	98984314	3	4	1	1	0	0	0	0	1	0	0	0	970	739	26	2	77	2	ARPC1B	7	98984314	Missense_Mutation	SNP	C	TCGA-4C-A93U-01A-11D-A397-08	83258599	98984314	60154349	29	29											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		24	50	0	0	0	1	0	24	50					T	140453136	A	T	140453136	3	4	1	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-4C-A93U-01A-11D-A397-08	41468822	140453136	18685527	30	30											
PXDNL	137902	broad.mit.edu	37	chr8	52233422	52233422	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccctctaacatctgtacaCcctgcctgcctcaggcgtgc	7	18	3	0			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr8:52233422C>T	ENST00000356297.4	-	22	4282	c.4182G>A	c.(4180-4182)ggG>ggA	p.G1394G	PXDNL_ENST00000543296.1_Missense_Mutation_p.V1313M|RP11-401H2.1_ENST00000521294.1_RNA	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1394	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CATCTGTACACCCTGCCTGCC	0.502																																						ENST00000543296.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(3937-3939)Gtg>Atg		peroxidasin homolog (Drosophila)-like							141	153	149					8																	52233422		1954	4149	6103	SO:0001819	synonymous_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52233422C>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.4182G>A	8.37:g.52233422C>T						PXDNL_ENST00000356297.4_Silent_p.G1394G|RP11-401H2.1_ENST00000521294.1_RNA	p.V1313M			A1KZ92	PXDNL_HUMAN			20	4037	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	0					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.3937G>A	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.287|4.287	0.052370|0.052370	0.08291|0.08291	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000522933|ENST00000543296	T|T	0.67345|0.66099	-0.26|-0.19	4.29|4.29	-4.56|-4.56	0.03431|0.03431	.|.	.|.	.|.	.|.	.|.	T|T	0.42017|0.42017	0.1184|0.1184	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.34329|0.34329	-0.9833|-0.9833	6|6	0.10636|0.33940	T|T	0.68|0.23	.|.	1.8584|1.8584	0.03184|0.03184	0.1496:0.3981:0.1523:0.3|0.1496:0.3981:0.1523:0.3	.|.	.|.	.|.	.|.	D|M	468|1313	ENSP00000428114:G468D|ENSP00000444865:V1313M	ENSP00000428114:G468D|ENSP00000429855:V579M	G|V	-|-	2|1	0|0	PXDNL|PXDNL	52395975|52395975	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.018000|0.018000	0.09664|0.09664	-0.067000|-0.067000	0.11579|0.11579	-1.033000|-1.033000	0.03299|0.03299	-0.136000|-0.136000	0.14681|0.14681	GGT|GTG		0.502	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		43	63	0	0	0	1	0	43	63					T	52233422	C	T	52233422	2	4	1	1	0	0	0	0	0	0	0	1	12848	494	18	2		2	PXDNL	8	52233422	Silent	SNP	C	TCGA-4C-A93U-01A-11D-A397-08		52233422	94130600	31	31											
VPS13B	157680	broad.mit.edu	37	chr8	100523650	100523650	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccatgaggacccatacactgAcatcccgcaatttacctttg	6	14	0	2			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr8:100523650A>T	ENST00000358544.2	+	29	4729	c.4618A>T	c.(4618-4620)Aca>Tca	p.T1540S	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.T1515S	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1540					protein transport (GO:0015031)					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)			CCATACACTGACATCCCGCAA	0.363																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				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.(4618-4620)Aca>Tca		vacuolar protein sorting 13 homolog B (yeast)							43	41	42					8																	100523650		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100523650A>T	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.4618A>T	8.37:g.100523650A>T	ENSP00000351346:p.Thr1540Ser					VPS13B_ENST00000357162.2_Missense_Mutation_p.T1515S|VPS13B_ENST00000395996.1_3'UTR	p.T1540S	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		29	4729	+	Breast(36;3.73e-07)		1540					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.4618A>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	17.72	3.460059	0.63401	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.69806	-0.43;-0.43	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.61640	0.2363	L	0.57536	1.79	0.80722	D	1	P;P;P	0.42827	0.791;0.791;0.686	B;B;B	0.38327	0.271;0.271;0.14	T	0.61008	-0.7149	10	0.20519	T	0.43	.	15.6332	0.76929	1.0:0.0:0.0:0.0	.	1539;1515;1540	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8	.;.;VP13B_HUMAN	S	1515;1540	ENSP00000349685:T1515S;ENSP00000351346:T1540S	ENSP00000349685:T1515S	T	+	1	0	VPS13B	100592826	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	4.670000	0.61583	2.155000	0.67459	0.477000	0.44152	ACA		0.363	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		23	25	0	0	0	1	0	23	25					T	100523650	A	T	100523650	3	4	1	1	0	0	0	0	1	0	0	0	17187	275	10	5	4922	5	VPS13B	8	100523650	Missense_Mutation	SNP	A	TCGA-4C-A93U-01A-11D-A397-08	48290228	100523650	45840372	32	32											
CDKN2A	1029	broad.mit.edu	37	chr9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcgtcgtgcacgggtcGggtgagagtggcggggtcgg	23	8	0	1	rs121913388		TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|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 cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17																	1474	Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)	haematopoietic_and_lymphoid_tissue(298)|skin(206)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(76)|oesophagus(72)|upper_aerodigestive_tract(63)|soft_tissue(60)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|biliary_tract(16)|thyroid(15)|NS(14)|stomach(14)|large_intestine(7)|autonomic_ganglia(7)|meninges(7)|liver(6)|salivary_gland(4)|thymus(4)|vulva(3)|endometrium(3)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM014695	CDKN2A	M	rs121913388	c.(238-240)Cga>Tga		cyclin-dependent kinase inhibitor 2A							11	14	13					9																	21971120		2172	4246	6418	SO:0001587	stop_gained	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971120G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.238C>T	9.37:g.21971120G>A	ENSP00000307101:p.Arg80*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L	p.R80*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	508	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	80		R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.238C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.328457|7.328457	0.98214|0.98214	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.86497|.	-2.13;-2.02|.	5.93|5.93	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37136|.	N|.	0.002233|.	T|.	0.44561|.	0.1299|.	L|L	0.36672|0.36672	1.1|1.1	0.47511|0.47511	D|D	0.999443|0.999443	D|.	0.59357|.	0.985|.	B|.	0.40602|.	0.334|.	T|.	0.34825|.	-0.9813|.	10|.	0.13108|0.02654	T|T	0.6|1	-2.989|-2.989	8.7197|8.7197	0.34434|0.34434	0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526	.|.	135|.	Q8N726|.	CD2A2_HUMAN|.	L|X	135;94|80	ENSP00000355153:P135L;ENSP00000432664:P94L|.	ENSP00000355153:P135L|ENSP00000307101:R80X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961120|21961120	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.363000|2.363000	0.44178|0.44178	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CCG|CGA		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		10	18	0	0	0	1	0	10	18					A	21971120	G	A	21971120	4	1	1	1	0	0	0	0	0	1	0	0	3161	1125	39	1	240	1	CDKN2A	9	21971120	Nonsense_Mutation	SNP	G	TCGA-4C-A93U-01A-11D-A397-08		21971120	119242311	33	33											
GDI2	2665	broad.mit.edu	37	chr10	5842629	5842629	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgatccatatgaagaacttTcttgccattcactgacatta	5	10	2	3			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr10:5842629T>C	ENST00000380191.4	-	2	375	c.85A>G	c.(85-87)Aaa>Gaa	p.K29E	GDI2_ENST00000380181.3_Missense_Mutation_p.K29E|GDI2_ENST00000380132.4_Missense_Mutation_p.K33E	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	29					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|Rab GDP-dissociation inhibitor activity (GO:0005093)|Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						TGAAGAACTTTCTTGCCATTC	0.363																																						ENST00000380191.4																			0				NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						c.(85-87)Aaa>Gaa		GDP dissociation inhibitor 2							218	195	202					10																	5842629		2203	4300	6503	SO:0001583	missense	2665				protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity	g.chr10:5842629T>C	D13988	CCDS7071.1, CCDS44352.1	10p15	2010-03-16			ENSG00000057608	ENSG00000057608			4227	protein-coding gene	gene with protein product	"rab GDP-dissociation"	600767				9434952	Standard	NM_001494		Approved	RABGDIB	uc001iil.4	P50395	OTTHUMG00000017607	ENST00000380191.4:c.85A>G	10.37:g.5842629T>C	ENSP00000369538:p.Lys29Glu					GDI2_ENST00000380132.4_Missense_Mutation_p.K33E|GDI2_ENST00000380181.3_Missense_Mutation_p.K29E	p.K29E	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN			2	375	-			29					O43928|Q5SX88|Q9UQM6	Missense_Mutation	SNP	ENST00000380191.4	37	c.85A>G	CCDS7071.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.882526	0.91740	.	.	ENSG00000057608	ENST00000380191;ENST00000380132;ENST00000380181;ENST00000456041;ENST00000380127	T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02	5.14	5.14	0.70334	.	0.042149	0.85682	D	0.000000	D	0.82623	0.5077	M	0.92459	3.31	0.80722	D	1	D;D;P	0.60575	0.965;0.988;0.933	P;D;P	0.65573	0.887;0.936;0.776	D	0.87293	0.2300	10	0.87932	D	0	-24.8057	14.9073	0.70730	0.0:0.0:0.0:1.0	.	33;29;29	E7EU23;Q5SX88;P50395	.;.;GDIB_HUMAN	E	29;33;29;29;33	ENSP00000369538:K29E;ENSP00000369475:K33E;ENSP00000369528:K29E;ENSP00000401733:K29E;ENSP00000369470:K33E	ENSP00000369470:K33E	K	-	1	0	GDI2	5882635	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	7.895000	0.87343	2.053000	0.61076	0.533000	0.62120	AAA		0.363	GDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046580.1	NM_001494		33	67	0	0	0	1	0	33	67					C	5842629	T	C	5842629	3	2	1	1	0	0	0	0	1	0	0	0	6321	1792	62	3	1292	3	GDI2	10	5842629	Missense_Mutation	SNP	T	TCGA-4C-A93U-01A-11D-A397-08		5842629	129692118	34	34											
ANKRD26	22852	broad.mit.edu	37	chr10	27382395	27382395	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggacatccgcaagatttggAtcagcaccatgttctagcag	10	10	2	1			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr10:27382395A>T	ENST00000376087.4	-	3	579	c.414T>A	c.(412-414)gaT>gaA	p.D138E	ANKRD26_ENST00000436985.2_Missense_Mutation_p.D138E	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	138					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						CAAGATTTGGATCAGCACCAT	0.408																																						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.(412-414)gaT>gaA		ankyrin repeat domain 26							174	163	167					10																	27382395		2025	4219	6244	SO:0001583	missense	22852					centrosome		g.chr10:27382395A>T	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.414T>A	10.37:g.27382395A>T	ENSP00000365255:p.Asp138Glu					ANKRD26_ENST00000436985.2_Missense_Mutation_p.D138E	p.D138E	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN			3	579	-			138					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	c.414T>A	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.677784	0.88445	.	.	ENSG00000107890	ENST00000376087;ENST00000436985	T;T	0.59224	0.28;0.28	4.15	-0.426	0.12314	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.53899	0.1825	M	0.62154	1.92	0.80722	D	1	P;P	0.41393	0.704;0.748	B;B	0.41946	0.255;0.371	T	0.54616	-0.8267	9	0.72032	D	0.01	.	10.5334	0.44990	0.2188:0.0:0.7812:0.0	.	138;138	Q9UPS8-3;Q9UPS8	.;ANR26_HUMAN	E	138	ENSP00000365255:D138E;ENSP00000405112:D138E	ENSP00000365255:D138E	D	-	3	2	ANKRD26	27422401	0.964000	0.33143	0.004000	0.12327	0.870000	0.49936	0.036000	0.13819	-0.378000	0.07918	0.397000	0.26171	GAT		0.408	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			28	67	0	0	0	1	0	28	67					T	27382395	A	T	27382395	3	4	1	1	0	0	0	0	1	0	0	0	654	330	12	5	4846	5	ANKRD26	10	27382395	Missense_Mutation	SNP	A	TCGA-4C-A93U-01A-11D-A397-08	21539766	27382395	108152352	35	35											
SPOCK2	9806	broad.mit.edu	37	chr10	73826823	73826823	+	Silent	SNP	G	G	A													tcagcactggtgtccagcttGgagaacatccagccaatgga							TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr10:73826823G>A	ENST00000373109.2	-	8	1209	c.765C>T	c.(763-765)tcC>tcT	p.S255S	SPOCK2_ENST00000317376.4_Silent_p.S255S|SPOCK2_ENST00000536168.1_Silent_p.S255S|SPOCK2_ENST00000460053.1_5'UTR	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	255					extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of cell differentiation (GO:0045595)|signal transduction (GO:0007165)|synapse assembly (GO:0007416)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						TGTCCAGCTTGGAGAACATCC	0.577																																						ENST00000373109.2																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(763-765)tcC>tcT		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2							91	77	82					10																	73826823		2203	4300	6503	SO:0001819	synonymous_variant	9806				extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding	g.chr10:73826823G>A	AJ001453	CCDS7313.1, CCDS44431.1	10q22.1	2013-09-19			ENSG00000107742	ENSG00000107742			13564	protein-coding gene	gene with protein product		607988				10386950	Standard	NM_014767		Approved	KIAA0275, testican-2	uc001jso.2	Q92563	OTTHUMG00000018430	ENST00000373109.2:c.765C>T	10.37:g.73826823G>A						SPOCK2_ENST00000460053.1_5'UTR|SPOCK2_ENST00000317376.4_Silent_p.S255S|SPOCK2_ENST00000536168.1_Silent_p.S255S	p.S255S	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN			8	1209	-			255					C9J767|Q6UW87	Silent	SNP	ENST00000373109.2	37	c.765C>T	CCDS7313.1																																																																																				0.577	SPOCK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048560.2			21	50	0	0	0	1	0	21	50					A	73826823	G	A	73826823	2	1	1	1	0	0	0	0	0	0	0	1	15079	1335	47	2		2	SPOCK2	10	73826823	Silent	SNP	G	TCGA-4C-A93U-01A-11D-A397-08	46444428	73826823	61707924	36	36	1	3									
SPOCK2	9806	broad.mit.edu	37	chr10	73826824	73826824	+	Missense_Mutation	SNP	G	G	A													cagcactggtgtccagcttgGagaacatccagccaatggag							TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr10:73826824G>A	ENST00000373109.2	-	8	1208	c.764C>T	c.(763-765)tCc>tTc	p.S255F	SPOCK2_ENST00000317376.4_Missense_Mutation_p.S255F|SPOCK2_ENST00000536168.1_Missense_Mutation_p.S255F|SPOCK2_ENST00000460053.1_5'UTR	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	255					extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of cell differentiation (GO:0045595)|signal transduction (GO:0007165)|synapse assembly (GO:0007416)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GTCCAGCTTGGAGAACATCCA	0.582																																						ENST00000373109.2																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(763-765)tCc>tTc		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2							90	77	81					10																	73826824		2203	4300	6503	SO:0001583	missense	9806				extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding	g.chr10:73826824G>A	AJ001453	CCDS7313.1, CCDS44431.1	10q22.1	2013-09-19			ENSG00000107742	ENSG00000107742			13564	protein-coding gene	gene with protein product		607988				10386950	Standard	NM_014767		Approved	KIAA0275, testican-2	uc001jso.2	Q92563	OTTHUMG00000018430	ENST00000373109.2:c.764C>T	10.37:g.73826824G>A	ENSP00000362201:p.Ser255Phe					SPOCK2_ENST00000460053.1_5'UTR|SPOCK2_ENST00000317376.4_Missense_Mutation_p.S255F|SPOCK2_ENST00000536168.1_Missense_Mutation_p.S255F	p.S255F	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN			8	1208	-			255					C9J767|Q6UW87	Missense_Mutation	SNP	ENST00000373109.2	37	c.764C>T	CCDS7313.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.594000	0.66219	.	.	ENSG00000107742	ENST00000373109;ENST00000317376;ENST00000536168	T;T	0.55413	0.52;0.52	5.13	5.13	0.70059	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.118493	0.64402	D	0.000016	T	0.73418	0.3584	M	0.78637	2.42	0.80722	D	1	D	0.71674	0.998	D	0.68483	0.958	T	0.77670	-0.2501	10	0.87932	D	0	.	18.1875	0.89796	0.0:0.0:1.0:0.0	.	255	Q92563	TICN2_HUMAN	F	252;255;255	ENSP00000321108:S255F;ENSP00000439445:S255F	ENSP00000321108:S255F	S	-	2	0	SPOCK2	73496830	1.000000	0.71417	1.000000	0.80357	0.493000	0.33554	5.544000	0.67231	2.388000	0.81334	0.561000	0.74099	TCC		0.582	SPOCK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048560.2			22	51	0	0	0	1	0	22	51					A	73826824	G	A	73826824	3	1	1	1	0	0	0	0	1	0	0	0	15079	1174	41	2	526	2	SPOCK2	10	73826824	Missense_Mutation	SNP	G	TCGA-4C-A93U-01A-11D-A397-08	1	73826824	61707923	37	37	1	3									
SPOCK2	9806	broad.mit.edu	37	chr10	73826826	73826826	+	Silent	SNP	G	G	A													gcactggtgtccagcttggaGaacatccagccaatggagtc							TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr10:73826826G>A	ENST00000373109.2	-	8	1206	c.762C>T	c.(760-762)ttC>ttT	p.F254F	SPOCK2_ENST00000317376.4_Silent_p.F254F|SPOCK2_ENST00000536168.1_Silent_p.F254F|SPOCK2_ENST00000460053.1_5'UTR	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	254					extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of cell differentiation (GO:0045595)|signal transduction (GO:0007165)|synapse assembly (GO:0007416)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CCAGCTTGGAGAACATCCAGC	0.577																																						ENST00000373109.2																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(760-762)ttC>ttT		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2							89	76	80					10																	73826826		2203	4300	6503	SO:0001819	synonymous_variant	9806				extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding	g.chr10:73826826G>A	AJ001453	CCDS7313.1, CCDS44431.1	10q22.1	2013-09-19			ENSG00000107742	ENSG00000107742			13564	protein-coding gene	gene with protein product		607988				10386950	Standard	NM_014767		Approved	KIAA0275, testican-2	uc001jso.2	Q92563	OTTHUMG00000018430	ENST00000373109.2:c.762C>T	10.37:g.73826826G>A						SPOCK2_ENST00000460053.1_5'UTR|SPOCK2_ENST00000317376.4_Silent_p.F254F|SPOCK2_ENST00000536168.1_Silent_p.F254F	p.F254F	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN			8	1206	-			254					C9J767|Q6UW87	Silent	SNP	ENST00000373109.2	37	c.762C>T	CCDS7313.1																																																																																				0.577	SPOCK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048560.2			20	51	0	0	0	1	0	20	51					A	73826826	G	A	73826826	2	1	1	1	0	0	0	0	0	0	0	1	15079	933	33	2		2	SPOCK2	10	73826826	Silent	SNP	G	TCGA-4C-A93U-01A-11D-A397-08	2	73826826	61707921	38	38	1	3									
MYST4	23522	broad.mit.edu	37	chr10	76735311	76735311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggctgttacagaccccactCggcctggtgccaccaccaaa	9	16	0	1			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr10:76735311C>T	ENST00000287239.4	+	8	1705	c.1216C>T	c.(1216-1218)Cgg>Tgg	p.R406W	KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372711.1_Missense_Mutation_p.R406W	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	406	Negatively regulates HAT activity.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										AGACCCCACTCGGCCTGGTGC	0.493																																						ENST00000287239.4																			0											c.(1216-1218)Cgg>Tgg		K(lysine) acetyltransferase 6B							113	96	102					10																	76735311		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76735311C>T	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	17582	protein-coding gene	gene with protein product	"MOZ-related factor"	605880	"MYST histone acetyltransferase (monocytic leukemia) 4"	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.1216C>T	10.37:g.76735311C>T	ENSP00000287239:p.Arg406Trp					KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372711.1_Missense_Mutation_p.R406W|KAT6B_ENST00000372714.1_Intron	p.R406W	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			8	1705	+			406			Negatively regulates HAT activity.		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.1216C>T	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.765663	0.31228	.	.	ENSG00000156650	ENST00000287239;ENST00000372711	T;T	0.78364	-1.16;-1.17	5.73	5.73	0.89815	.	0.000000	0.42821	D	0.000656	T	0.60483	0.2272	N	0.14661	0.345	0.33659	D	0.60947	B;B	0.18013	0.025;0.014	B;B	0.09377	0.004;0.002	T	0.62845	-0.6768	9	.	.	.	-8.4311	12.3891	0.55348	0.0:0.9229:0.0:0.0771	.	406;406	Q8WYB5-2;Q8WYB5	.;KAT6B_HUMAN	W	406	ENSP00000287239:R406W;ENSP00000361796:R406W	.	R	+	1	2	KAT6B	76405317	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.890000	0.56220	2.716000	0.92895	0.655000	0.94253	CGG		0.493	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		15	56	0	0	0	1	0	15	56					T	76735311	C	T	76735311	3	4	1	1	0	0	0	0	1	0	0	0	10105	875	31	1	1238	1	MYST4	10	76735311	Missense_Mutation	SNP	C	TCGA-4C-A93U-01A-11D-A397-08	2908485	76735311	58799436	39	39											
CNNM1	26507	broad.mit.edu	37	chr10	101090713	101090713	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acggttctggaggagtttaaGaagggtgagcagtagtctat	15	4	2	2			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr10:101090713G>C	ENST00000356713.4	+	1	1858	c.1569G>C	c.(1567-1569)aaG>aaC	p.K523N	CNNM1_ENST00000370534.4_Missense_Mutation_p.K158N|CNNM1_ENST00000446890.1_Missense_Mutation_p.K452N|CNNM1_ENST00000370528.3_Missense_Mutation_p.K452N	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	523	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		AGGAGTTTAAGAAGGGTGAGC	0.517																																						ENST00000356713.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25						c.(1567-1569)aaG>aaC		cyclin M1							50	51	51					10																	101090713		2203	4300	6503	SO:0001583	missense	26507				ion transport	integral to membrane|plasma membrane		g.chr10:101090713G>C	AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"cyclin M1"	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.1569G>C	10.37:g.101090713G>C	ENSP00000349147:p.Lys523Asn					CNNM1_ENST00000370528.3_Missense_Mutation_p.K452N|CNNM1_ENST00000370534.4_Missense_Mutation_p.K158N|CNNM1_ENST00000446890.1_Missense_Mutation_p.K452N	p.K523N	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)	1	1858	+		Colorectal(252;0.234)	523			CBS 2.		Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	ENST00000356713.4	37	c.1569G>C	CCDS7478.2	.	.	.	.	.	.	.	.	.	.	G	14.51	2.558051	0.45590	.	.	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528;ENST00000370534	D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36	4.54	1.65	0.23941	Cystathionine beta-synthase, core (3);	0.000000	0.85682	D	0.000000	D	0.95156	0.8430	M	0.67569	2.06	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.91635	0.982;0.999;0.999;0.978	D	0.93662	0.6982	10	0.87932	D	0	-0.8522	9.8378	0.40980	0.2166:0.0:0.7834:0.0	.	158;523;158;523	F5H5J0;Q9NRU3-2;B7Z5S3;Q9NRU3	.;.;.;CNNM1_HUMAN	N	523;452;452;158	ENSP00000349147:K523N;ENSP00000406492:K452N;ENSP00000359559:K452N;ENSP00000359565:K158N	ENSP00000349147:K523N	K	+	3	2	CNNM1	101080703	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	5.492000	0.66893	0.167000	0.19631	0.462000	0.41574	AAG		0.517	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348		32	49	0	0	0	1	0	32	49					C	101090713	G	C	101090713	3	2	1	1	0	0	0	0	1	0	0	0	3612	933	33	4	1571	4	CNNM1	10	101090713	Missense_Mutation	SNP	G	TCGA-4C-A93U-01A-11D-A397-08	24355402	101090713	34444034	40	40											
C10orf2	56652	broad.mit.edu	37	chr10	102749139	102749139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcaagcagctggcctccGctggagccgctttccagacc	13	15	0	1	rs556445621		TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr10:102749139G>A	ENST00000311916.2	+	1	1357	c.1172G>A	c.(1171-1173)cGc>cAc	p.R391H	MRPL43_ENST00000370241.3_5'Flank|MRPL43_ENST00000370242.4_5'Flank|MRPL43_ENST00000370234.4_5'Flank|MRPL43_ENST00000477279.1_5'Flank|C10orf2_ENST00000473656.1_Intron|MRPL43_ENST00000370236.1_5'Flank|MRPL43_ENST00000318325.2_5'Flank|C10orf2_ENST00000370228.1_Missense_Mutation_p.R391H|MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000318364.8_5'Flank|MRPL43_ENST00000342071.1_5'Flank|MRPL43_ENST00000299179.5_5'Flank	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	391	SF4 helicase. {ECO:0000255|PROSITE- ProRule:PRU00596}.				cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GCTGGCCTCCGCTGGAGCCGC	0.552													g|||	1	0.000199681	0	0	5008	,	,		18759	0.001		0	False		,,,				2504	0					ENST00000370228.1																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24						c.(1171-1173)cGc>cAc		chromosome 10 open reading frame 2							64	69	67					10																	102749139		2203	4300	6503	SO:0001583	missense	56652				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding	g.chr10:102749139G>A	AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"twinkle", "T7 helicase-related protein with intramitochondrial nucleoid localization"	606075	"infantile onset spinocerebellar ataxia (autosomal recessive)"	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000311916.2:c.1172G>A	10.37:g.102749139G>A	ENSP00000309595:p.Arg391His					C10orf2_ENST00000473656.1_Intron|C10orf2_ENST00000311916.2_Missense_Mutation_p.R391H	p.R391H	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)	1	1357	+		Colorectal(252;0.122)|all_hematologic(284;0.152)	391			SF4 helicase.		B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Missense_Mutation	SNP	ENST00000311916.2	37	c.1172G>A	CCDS7506.1	.	.	.	.	.	.	.	.	.	.	g	13.28	2.190103	0.38707	.	.	ENSG00000107815	ENST00000311916;ENST00000370228	D;D	0.94280	-3.39;-3.39	6.03	3.19	0.36642	DNA helicase, DnaB-like, C-terminal (1);	0.299817	0.34676	N	0.003765	D	0.92149	0.7511	L	0.50333	1.59	0.34266	D	0.68043	B;D	0.65815	0.007;0.995	B;P	0.58266	0.004;0.836	D	0.89255	0.3593	10	0.15066	T	0.55	-11.0771	5.5226	0.16941	0.2073:0.283:0.5097:0.0	.	391;391	Q96RR1-2;Q96RR1	.;PEO1_HUMAN	H	391	ENSP00000309595:R391H;ENSP00000359248:R391H	ENSP00000309595:R391H	R	+	2	0	C10orf2	102739129	1.000000	0.71417	0.943000	0.38184	0.034000	0.12701	2.637000	0.46553	0.438000	0.26450	-0.264000	0.10439	CGC		0.552	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049886.1	NM_021830		44	66	0	0	0	1	0	44	66					A	102749139	G	A	102749139	3	1	1	1	0	0	0	0	1	0	0	0	1597	1087	38	1	1174	1	C10orf2	10	102749139	Missense_Mutation	SNP	G	TCGA-4C-A93U-01A-11D-A397-08	1658426	102749139	32785608	41	41											
ECHS1	1892	broad.mit.edu	37	chr10	135179592	135179592	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcaacaggacaaatcttgctGacaagacctgaaacacaaga	7	10	2	4			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr10:135179592G>C	ENST00000368547.3	-	6	982	c.627C>G	c.(625-627)gtC>gtG	p.V209V		NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial	209					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enoyl-CoA hydratase activity (GO:0004300)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		AAATCTTGCTGACAAGACCTG	0.478																																					GBM(132;1720 1771 5373 10277 21402)	ENST00000368547.3																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10						c.(625-627)gtC>gtG		enoyl CoA hydratase, short chain, 1, mitochondrial							102	88	92					10																	135179592		2203	4300	6503	SO:0001819	synonymous_variant	1892				fatty acid beta-oxidation	mitochondrial matrix	enoyl-CoA hydratase activity|protein binding	g.chr10:135179592G>C		CCDS7681.1	10q26.2-q26.3	2010-05-04	2010-04-30		ENSG00000127884	ENSG00000127884	4.2.1.17		3151	protein-coding gene	gene with protein product		602292	"enoyl Coenzyme A hydratase, short chain, 1, mitochondrial"			8012501	Standard	NM_004092		Approved	SCEH	uc001lmu.3	P30084	OTTHUMG00000019320	ENST00000368547.3:c.627C>G	10.37:g.135179592G>C							p.V209V	NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)	6	982	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	209					O00739|Q5VWY1|Q96H54	Silent	SNP	ENST00000368547.3	37	c.627C>G	CCDS7681.1																																																																																				0.478	ECHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051156.1			27	39	0	0	0	1	0	27	39					C	135179592	G	C	135179592	2	2	1	1	0	0	0	0	0	0	0	1	4896	1277	45	4		4	ECHS1	10	135179592	Silent	SNP	G	TCGA-4C-A93U-01A-11D-A397-08	32430453	135179592	355155	42	42											
EIF3F	8665	broad.mit.edu	37	chr11	8013700	8013700	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtttctccaaatgagctcAtcctgggctggtaagttggg	12	8	2	1			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr11:8013700A>G	ENST00000533626.1	+	5	1131	c.505A>G	c.(505-507)Atc>Gtc	p.I169V	EIF3F_ENST00000537635.1_Missense_Mutation_p.I184V|EIF3F_ENST00000449102.2_Missense_Mutation_p.I20V|EIF3F_ENST00000309828.4_Missense_Mutation_p.I169V					eukaryotic translation initiation factor 3, subunit F											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAATGAGCTCATCCTGGGCTG	0.463																																						ENST00000533626.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13						c.(505-507)Atc>Gtc		eukaryotic translation initiation factor 3, subunit F							37	35	36					11																	8013700		2201	4296	6497	SO:0001583	missense	8665					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr11:8013700A>G	U94855, AK093511	CCDS7785.1	11p15.4	2010-03-10	2007-07-27	2007-07-27	ENSG00000175390	ENSG00000175390			3275	protein-coding gene	gene with protein product		603914	"eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa"	EIF3S5		9341143	Standard	NM_003754		Approved	eIF3-epsilon, eIF3-p47, eIF3f	uc001mfw.3	O00303		ENST00000533626.1:c.505A>G	11.37:g.8013700A>G	ENSP00000431800:p.Ile169Val					EIF3F_ENST00000449102.2_Missense_Mutation_p.I20V|EIF3F_ENST00000537635.1_Missense_Mutation_p.I184V|EIF3F_ENST00000309828.4_Missense_Mutation_p.I169V	p.I169V			O00303	EIF3F_HUMAN		Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	5	1131	+			169			MPN.			Missense_Mutation	SNP	ENST00000533626.1	37	c.505A>G	CCDS7785.1	.	.	.	.	.	.	.	.	.	.	A	17.27	3.346437	0.61073	.	.	ENSG00000175390	ENST00000533626;ENST00000537635;ENST00000309828;ENST00000538607;ENST00000449102	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.37544	0.1007	L	0.37750	1.13	0.58432	D	0.999998	P	0.47191	0.891	P	0.45610	0.487	T	0.11842	-1.0571	10	0.34782	T	0.22	-11.3173	12.4676	0.55768	1.0:0.0:0.0:0.0	.	169	O00303	EIF3F_HUMAN	V	169;184;169;119;20	ENSP00000431800:I169V;ENSP00000442283:I184V;ENSP00000310040:I169V;ENSP00000396929:I20V	ENSP00000310040:I169V	I	+	1	0	EIF3F	7970276	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.674000	0.91191	1.986000	0.57962	0.524000	0.50904	ATC		0.463	EIF3F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385713.2	NM_003754		17	26	0	0	0	1	0	17	26					G	8013700	A	G	8013700	3	3	1	1	0	0	0	0	1	0	0	0	5016	217	8	3	515	3	EIF3F	11	8013700	Missense_Mutation	SNP	A	TCGA-4C-A93U-01A-11D-A397-08		8013700	126992816	43	43											
C11orf41	25758	broad.mit.edu	37	chr11	33612907	33612907	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tagagatgctcctcaggaaaGagacgtcgctcaggatggaa	13	8	2	2			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr11:33612907G>C	ENST00000321505.4	+	11	3980	c.3800G>C	c.(3799-3801)aGa>aCa	p.R1267T	KIAA1549L_ENST00000265654.5_Intron|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.R1273T			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1267						integral component of membrane (GO:0016021)											CCTCAGGAAAGAGACGTCGCT	0.562																																						ENST00000321505.4																			0											c.(3799-3801)aGa>aCa		KIAA1549-like							74	76	75					11																	33612907		2021	4173	6194	SO:0001583	missense	25758							g.chr11:33612907G>C	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.3800G>C	11.37:g.33612907G>C	ENSP00000315295:p.Arg1267Thr					KIAA1549L_ENST00000389726.3_Missense_Mutation_p.R1273T|KIAA1549L_ENST00000265654.5_Intron	p.R1267T							11	3980	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.3800G>C	CCDS44565.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.7|22.7	4.324980|4.324980	0.81580|0.81580	.|.	.|.	ENSG00000110427|ENSG00000110427	ENST00000526400|ENST00000321505;ENST00000389726;ENST00000536568	.|.	.|.	.|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.044402	.|0.85682	.|D	.|0.000000	T|T	0.79106|0.79106	0.4390|0.4390	M|M	0.65975|0.65975	2.015|2.015	0.40983|0.40983	D|D	0.984793|0.984793	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	T|T	0.79792|0.79792	-0.1654|-0.1654	5|9	.|0.56958	.|D	.|0.05	-16.2003|-16.2003	19.6229|19.6229	0.95667|0.95667	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1273	.|E9PAT2	.|.	Q|T	665|1267;1273;1106	.|.	.|ENSP00000315295:R1267T	E|R	+|+	1|2	0|0	C11orf41|C11orf41	33569483|33569483	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.889000|0.889000	0.51656|0.51656	7.204000|7.204000	0.77872|0.77872	2.648000|2.648000	0.89879|0.89879	0.561000|0.561000	0.74099|0.74099	GAG|AGA		0.562	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		24	37	0	0	0	1	0	24	37					C	33612907	G	C	33612907	3	2	1	1	0	0	0	0	1	0	0	0	1640	942	33	4	3860	4	C11orf41	11	33612907	Missense_Mutation	SNP	G	TCGA-4C-A93U-01A-11D-A397-08	25599207	33612907	101393609	44	44											
INCENP	3619	broad.mit.edu	37	chr11	61895702	61895702	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagaagctcatggagtttctCtgcaacatggataataagga	10	7	2	1			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr11:61895702C>T	ENST00000394818.3	+	2	271	c.69C>T	c.(67-69)ctC>ctT	p.L23L	INCENP_ENST00000278849.4_Silent_p.L23L	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	23					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGGAGTTTCTCTGCAACATGG	0.567																																						ENST00000394818.3																			0				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(67-69)ctC>ctT		inner centromere protein antigens 135/155kDa							92	87	88					11																	61895702		2202	4299	6501	SO:0001819	synonymous_variant	3619				chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding	g.chr11:61895702C>T	AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"inner centromere protein antigens (135kD, 155kD)"			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.69C>T	11.37:g.61895702C>T						INCENP_ENST00000278849.4_Silent_p.L23L	p.L23L	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN			2	271	+			23					A8MQD2|Q5Y192	Silent	SNP	ENST00000394818.3	37	c.69C>T	CCDS44624.1																																																																																				0.567	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238		21	34	0	0	0	1	0	21	34					T	61895702	C	T	61895702	2	4	1	1	0	0	0	0	0	0	0	1	7733	900	32	2		2	INCENP	11	61895702	Silent	SNP	C	TCGA-4C-A93U-01A-11D-A397-08	28282795	61895702	73110814	45	45											
FUT4	2526	broad.mit.edu	37	chr11	94277440	94277440	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagaaagggacgggcggtGcccggttgggcgtcctggcc	20	10	0	1			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr11:94277440G>A	ENST00000358752.2	+	1	424	c.141G>A	c.(139-141)gtG>gtA	p.V47V	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN	fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)	47					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	cell periphery (GO:0071944)|cell surface (GO:0009986)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GACGGGCGGTGCCCGGTTGGG	0.761																																						ENST00000358752.2																			0				central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(139-141)gtG>gtA		fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)							6	8	7					11																	94277440		2043	4091	6134	SO:0001819	synonymous_variant	2526				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity	g.chr11:94277440G>A		CCDS8301.1	11q21	2013-02-26			ENSG00000196371	ENSG00000196371		"CD molecules", "Fucosyltransferases"	4015	protein-coding gene	gene with protein product	"ELAM ligand fucosyltransferase", "galactoside 3-L-fucosyltransferase"	104230		CD15, FCT3A, ELFT		1702034	Standard	NM_002033		Approved	FUC-TIV	uc001pez.3	P22083	OTTHUMG00000167795	ENST00000358752.2:c.141G>A	11.37:g.94277440G>A							p.V47V	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN			1	424	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	47					B2RMS0	Silent	SNP	ENST00000358752.2	37	c.141G>A	CCDS8301.1																																																																																				0.761	FUT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396327.2	NM_002033		13	13	0	0	0	1	0	13	13					A	94277440	G	A	94277440	2	1	1	1	0	0	0	0	0	0	0	1	6106	1306	46	2		2	FUT4	11	94277440	Silent	SNP	G	TCGA-4C-A93U-01A-11D-A397-08	32381738	94277440	40729076	46	46											
TTC36	143941	broad.mit.edu	37	chr11	118399446	118399446	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagccatctgcctgctgcctGagagggcttcagcctacaac	10	14	2	1	rs377476216		TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr11:118399446G>A	ENST00000302783.4	+	2	270	c.247G>A	c.(247-249)Gag>Aag	p.E83K	RP11-770J1.3_ENST00000528578.1_RNA|TMEM25_ENST00000359862.4_5'Flank|TMEM25_ENST00000411589.2_5'Flank|TMEM25_ENST00000442938.2_5'Flank|TMEM25_ENST00000524725.1_5'Flank|TMEM25_ENST00000313236.5_5'Flank|TMEM25_ENST00000533102.1_5'Flank|TTC36_ENST00000539546.1_Missense_Mutation_p.E24K|RP11-770J1.3_ENST00000532597.1_RNA|TMEM25_ENST00000354064.7_5'Flank|TMEM25_ENST00000544878.1_5'Flank|RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000556583.1_RNA|TMEM25_ENST00000354284.4_5'Flank	NM_001080441.1	NP_001073910.1	A6NLP5	TTC36_HUMAN	tetratricopeptide repeat domain 36	83										lung(2)	2						CCTGCTGCCTGAGAGGGCTTC	0.642																																						ENST00000539546.1																			0				lung(2)	2						c.(70-72)Gag>Aag		tetratricopeptide repeat domain 36		G	LYS/GLU	0,4400		0,0,2200	47	46	46		247	2.2	1.0	11		46	1,8589	1.2+/-3.3	0,1,4294	no	missense	TTC36	NM_001080441.1	56	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	benign	83/190	118399446	1,12989	2200	4295	6495	SO:0001583	missense	143941						binding	g.chr11:118399446G>A	EU489483	CCDS31687.1	11q23.3	2013-01-10			ENSG00000172425	ENSG00000172425		"Tetratricopeptide (TTC) repeat domain containing"	33708	protein-coding gene	gene with protein product	"HSP70 binding protein 21"						Standard	NM_001080441		Approved	HBP21	uc001ptg.1	A6NLP5	OTTHUMG00000166338	ENST00000302783.4:c.247G>A	11.37:g.118399446G>A	ENSP00000307640:p.Glu83Lys					RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000528578.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000556583.1_RNA|TTC36_ENST00000302783.4_Missense_Mutation_p.E83K|RP11-770J1.3_ENST00000554407.1_RNA	p.E24K			A6NLP5	TTC36_HUMAN			3	405	+			83					B7ZW72|B9EJD8	Missense_Mutation	SNP	ENST00000302783.4	37	c.70G>A	CCDS31687.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.238792	0.22711	0.0	1.16E-4	ENSG00000172425	ENST00000302783;ENST00000539546	T;T	0.59906	0.23;0.23	5.27	2.15	0.27550	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.577107	0.19143	N	0.121660	T	0.41789	0.1174	N	0.21142	0.635	0.34748	D	0.731456	B	0.18968	0.032	B	0.24394	0.053	T	0.41520	-0.9504	10	0.10636	T	0.68	-6.5014	15.2688	0.73683	0.0:0.3887:0.6113:0.0	.	83	A6NLP5	TTC36_HUMAN	K	83;24	ENSP00000307640:E83K;ENSP00000442513:E24K	ENSP00000307640:E83K	E	+	1	0	TTC36	117904656	0.921000	0.31238	0.990000	0.47175	0.997000	0.91878	1.527000	0.35975	0.589000	0.29677	0.561000	0.74099	GAG		0.642	TTC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389241.2	NM_001080441		18	49	0	0	0	1	0	18	49					A	118399446	G	A	118399446	3	1	1	1	0	0	0	0	1	0	0	0	16701	1291	45	2	253	2	TTC36	11	118399446	Missense_Mutation	SNP	G	TCGA-4C-A93U-01A-11D-A397-08	24122006	118399446	16607070	47	47											
ARID2	196528	broad.mit.edu	37	chr12	46215248	46215257	+	Frame_Shift_Del	DEL	AGACTGATAG	AGACTGATAG	-													tggagaagaatggaaagagaAgactgatagagacttcgtta					rs190735394		TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr12:46215248_46215257delAGACTGATAG	ENST00000334344.6	+	6	855_864	c.683_692delAGACTGATAG	c.(682-693)aagactgatagafs	p.KTDR228fs	ARID2_ENST00000422737.1_Frame_Shift_Del_p.KTDR79fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	228					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TGGAAAGAGAAGACTGATAGAGACTTCGTT	0.281			"N, S, F"		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"N, S, F"	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(682-693)aafs		AT rich interactive domain 2 (ARID, RFX-like)																																				SO:0001589	frameshift_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46215248_46215257delAGACTGATAG		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.683_692delAGACTGATAG	12.37:g.46215248_46215257delAGACTGATAG	ENSP00000335044:p.Lys228fs					ARID2_ENST00000422737.1_Frame_Shift_Del_p.KTDR79fs	p.KTDR228fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	6	855_864	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	228					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Frame_Shift_Del	DEL	ENST00000334344.6	37	c.683_692delAGACTGATAG	CCDS31783.1																																																																																				0.281	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		9	60						9	60	---	---	---	---	-	46215257	AGACTGATAG	-	46215248	7	5	1	1	0	1	0	1	0	0	0	0	915	72	3	0	705	0	ARID2	12	46215248	Frame_Shift_Del	DEL	AGACTGATAG	TCGA-4C-A93U-01A-11D-A397-08		46215248	87636647	48	48											
C12orf41	54934	broad.mit.edu	37	chr12	49054304	49054304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaatgcagtgggcagcaggGatcctcagagaggcttacag	15	8	1	1			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr12:49054304G>A	ENST00000420613.2	-	8	1119	c.1072C>T	c.(1072-1074)Ccc>Tcc	p.P358S	KANSL2_ENST00000553086.1_Missense_Mutation_p.P358S|KANSL2_ENST00000548701.1_5'UTR|KANSL2_ENST00000550347.1_Missense_Mutation_p.P541S	NM_017822.3	NP_060292.3	Q9H9L4	KANL2_HUMAN	KAT8 regulatory NSL complex subunit 2	358					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)											GGGCAGCAGGGATCCTCAGAG	0.522																																						ENST00000550347.1																			0											c.(1621-1623)Ccc>Tcc		KAT8 regulatory NSL complex subunit 2							58	60	60					12																	49054304		1881	4130	6011	SO:0001583	missense	54934							g.chr12:49054304G>A	AK094528	CCDS44869.1	12q13.11	2011-10-31	2011-10-31	2011-10-31	ENSG00000139620	ENSG00000139620			26024	protein-coding gene	gene with protein product		615488	"chromosome 12 open reading frame 41"	C12orf41		12477932	Standard	NM_017822		Approved	FLJ20436, NSL2	uc001rrz.2	Q9H9L4	OTTHUMG00000170392	ENST00000420613.2:c.1072C>T	12.37:g.49054304G>A	ENSP00000415436:p.Pro358Ser					KANSL2_ENST00000420613.2_Missense_Mutation_p.P358S|KANSL2_ENST00000553086.1_Missense_Mutation_p.P358S|KANSL2_ENST00000548701.1_5'UTR	p.P541S			Q9H9L4	CL041_HUMAN			7	1664	-			358					Q8N3B5|Q96CV0|Q9NX51	Missense_Mutation	SNP	ENST00000420613.2	37	c.1621C>T	CCDS44869.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.941985	0.34283	.	.	ENSG00000139620	ENST00000550347;ENST00000420613;ENST00000547087;ENST00000553086	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.38	5.38	0.77491	.	0.053592	0.85682	D	0.000000	T	0.51312	0.1667	N	0.21373	0.66	0.80722	D	1	D;B;D;P	0.89917	0.988;0.327;1.0;0.939	P;B;D;P	0.91635	0.839;0.208;0.999;0.634	T	0.46219	-0.9207	10	0.30854	T	0.27	-7.5522	17.9102	0.88931	0.0:0.0:1.0:0.0	.	541;358;163;358	F8VX10;Q9H9L4;Q9H9L4-2;F8VXI8	.;CL041_HUMAN;.;.	S	541;358;106;358	ENSP00000449747:P541S;ENSP00000415436:P358S;ENSP00000447608:P106S;ENSP00000448833:P358S	ENSP00000415436:P358S	P	-	1	0	C12orf41	47340571	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.011000	0.93618	2.524000	0.85096	0.460000	0.39030	CCC		0.522	KANSL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408841.1	NM_017822		15	17	0	0	0	1	0	15	17					A	49054304	G	A	49054304	3	1	1	1	0	0	0	0	1	0	0	0	1687	1174	41	2	418	2	C12orf41	12	49054304	Missense_Mutation	SNP	G	TCGA-4C-A93U-01A-11D-A397-08	2839056	49054304	84797591	49	49											
ALDH2	217	broad.mit.edu	37	chr12	112230404	112230404	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cctgcccacttcccgcagtgGattgggccgtggaacaggcc	13	15	0	0	rs571588910		TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr12:112230404G>T	ENST00000261733.2	+	9	962	c.901G>T	c.(901-903)Gat>Tat	p.D301Y	ALDH2_ENST00000416293.3_Missense_Mutation_p.D254Y	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	301					alcohol metabolic process (GO:0006066)|carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|electron carrier activity (GO:0009055)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Amyl Nitrite(DB01612)|Benzyl alcohol(DB06770)|Disulfiram(DB00822)|Guanidine(DB00536)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)	TCCCGCAGTGGATTGGGCCGT	0.622			T	HMGA2	leiomyoma																																	ENST00000261733.2				Dom	yes		12	12q24.2	217	T	aldehyde dehydrogenase 2 family (mitochondrial)			M	HMGA2		leiomyoma		0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22						c.(901-903)Gat>Tat		aldehyde dehydrogenase 2 family (mitochondrial)	Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)						26	25	25					12																	112230404		2203	4299	6502	SO:0001583	missense	217				carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity	g.chr12:112230404G>T	M26760	CCDS9155.1, CCDS55885.1	12q24.12	2007-12-14				ENSG00000111275	1.2.1.3	"Aldehyde dehydrogenases"	404	protein-coding gene	gene with protein product		100650				4015823, 2987944	Standard	NM_000690		Approved		uc001tst.3	P05091	OTTHUMG00000169603	ENST00000261733.2:c.901G>T	12.37:g.112230404G>T	ENSP00000261733:p.Asp301Tyr					ALDH2_ENST00000416293.3_Missense_Mutation_p.D254Y	p.D301Y	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN			9	962	+			301					B4DW54|E7EUE5|Q03639|Q6IB13|Q6IV71	Missense_Mutation	SNP	ENST00000261733.2	37	c.901G>T	CCDS9155.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447098	0.63178	.	.	ENSG00000111275	ENST00000416293;ENST00000261733;ENST00000553044;ENST00000552234	T;T	0.21191	2.02;2.02	5.75	3.88	0.44766	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.135493	0.64402	D	0.000003	T	0.60495	0.2273	H	0.98446	4.235	0.80722	D	1	D;P;D	0.62365	0.991;0.743;0.98	D;B;P	0.67103	0.949;0.409;0.888	T	0.73366	-0.4005	10	0.87932	D	0	.	11.8981	0.52667	0.1455:0.0:0.8545:0.0	.	254;225;301	E7EUE5;F8VXI5;P05091	.;.;ALDH2_HUMAN	Y	254;301;225;161	ENSP00000403349:D254Y;ENSP00000261733:D301Y	ENSP00000261733:D301Y	D	+	1	0	ALDH2	110714787	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	7.529000	0.81952	0.732000	0.32470	0.655000	0.94253	GAT		0.622	ALDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405008.1	NM_000690		9	17	1	0	2.27111e-07	1	2.34942e-07	9	17					T	112230404	G	T	112230404	3	4	1	1	0	0	0	0	1	0	0	0	496	1174	41	4	935	4	ALDH2	12	112230404	Missense_Mutation	SNP	G	TCGA-4C-A93U-01A-11D-A397-08	63176100	112230404	21621491	50	50											
SPG20	23111	broad.mit.edu	37	chr13	36905542	36905542	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcacacaagttacctggagCcgaaggtcagacatttgcct	9	11	2	1			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr13:36905542C>T	ENST00000451493.1	-	3	1219	c.1002G>A	c.(1000-1002)cgG>cgA	p.R334R	SPG20_ENST00000438666.2_Silent_p.R334R|SPG20_ENST00000494062.2_Silent_p.R334R|SPG20_ENST00000355182.4_Silent_p.R334R|SPG20_ENST00000495510.1_5'UTR	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	334					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TTACCTGGAGCCGAAGGTCAG	0.418																																						ENST00000451493.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27						c.(1000-1002)cgG>cgA		spastic paraplegia 20 (Troyer syndrome)							113	109	110					13																	36905542		2203	4300	6503	SO:0001819	synonymous_variant	23111				cell death	cytoplasm	ubiquitin protein ligase binding	g.chr13:36905542C>T	AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"spartin"	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.1002G>A	13.37:g.36905542C>T						SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000355182.4_Silent_p.R334R|SPG20_ENST00000494062.2_Silent_p.R334R|SPG20_ENST00000438666.2_Silent_p.R334R	p.R334R	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)	3	1219	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	334					O60349|Q86Y67|Q9H1T2|Q9H1T3	Silent	SNP	ENST00000451493.1	37	c.1002G>A	CCDS9356.1																																																																																				0.418	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2			29	45	0	0	0	1	0	29	45					T	36905542	C	T	36905542	2	4	1	1	0	0	0	0	0	0	0	1	15041	726	26	2		2	SPG20	13	36905542	Silent	SNP	C	TCGA-4C-A93U-01A-11D-A397-08		36905542	78264336	51	51											
DNAJC3	5611	broad.mit.edu	37	chr13	96439369	96439369	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaaaaagctgagaaaaagttCattgatatagcagctgctaa	8	5	1	2			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr13:96439369C>T	ENST00000602402.1	+	11	1434	c.1317C>T	c.(1315-1317)ttC>ttT	p.F439F	DNAJC3_ENST00000376795.6_Silent_p.F388F	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	439	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of protein kinase activity (GO:0006469)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum Sec complex (GO:0031205)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	protein kinase inhibitor activity (GO:0004860)			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			AGAAAAAGTTCATTGATATAG	0.383																																						ENST00000602402.1																			0				NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1315-1317)ttC>ttT		DnaJ (Hsp40) homolog, subfamily C, member 3							110	116	114					13																	96439369		2203	4300	6503	SO:0001819	synonymous_variant	5611				protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding	g.chr13:96439369C>T	U28424	CCDS9479.1	13q32	2013-01-10			ENSG00000102580	ENSG00000102580		"Heat shock proteins / DNAJ (HSP40)", "Tetratricopeptide (TTC) repeat domain containing"	9439	protein-coding gene	gene with protein product		601184		PRKRI		7511204, 8824806	Standard	NM_006260		Approved	P58, P58IPK, HP58	uc001vmq.3	Q13217	OTTHUMG00000017227	ENST00000602402.1:c.1317C>T	13.37:g.96439369C>T						DNAJC3_ENST00000376795.6_Silent_p.F388F	p.F439F	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.126)		11	1434	+	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		439			J.		Q86WT9|Q8N4N2	Silent	SNP	ENST00000602402.1	37	c.1317C>T	CCDS9479.1																																																																																				0.383	DNAJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045504.3			33	70	0	0	0	1	0	33	70					T	96439369	C	T	96439369	2	4	1	1	0	0	0	0	0	0	0	1	4647	825	29	2		2	DNAJC3	13	96439369	Silent	SNP	C	TCGA-4C-A93U-01A-11D-A397-08	59533827	96439369	18730509	52	52											
RYR3	6263	broad.mit.edu	37	chr15	34140563	34140563	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgatggcctatatatcacCgaacagccatctgaagatga	8	9	2	4			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr15:34140563C>T	ENST00000389232.4	+	94	13639	c.13569C>T	c.(13567-13569)acC>acT	p.T4523T	RYR3_ENST00000415757.3_Silent_p.T4518T|RYR3_ENST00000559917.1_3'UTR	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4523					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TATATATCACCGAACAGCCAT	0.502																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(13567-13569)acC>acT		ryanodine receptor 3							78	81	80					15																	34140563		1967	4182	6149	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34140563C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.13569C>T	15.37:g.34140563C>T						RYR3_ENST00000415757.3_Silent_p.T4518T|RYR3_ENST00000559917.1_3'UTR	p.T4523T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	94	13639	+		all_lung(180;7.18e-09)	4523					O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.13569C>T	CCDS45210.1																																																																																				0.502	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			22	71	0	0	0	1	0	22	71					T	34140563	C	T	34140563	2	4	1	1	0	0	0	0	0	0	0	1	13770	639	23	1		1	RYR3	15	34140563	Silent	SNP	C	TCGA-4C-A93U-01A-11D-A397-08		34140563	68390829	53	53											
ZFP106	64397	broad.mit.edu	37	chr15	42740457	42740457	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tctctgacggtggtatagacCtctcctggctgttcaagtct	10	11	4	2			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr15:42740457C>G	ENST00000263805.4	-	3	3205	c.2879G>C	c.(2878-2880)aGg>aCg	p.R960T	ZNF106_ENST00000565611.1_Missense_Mutation_p.R145T|ZNF106_ENST00000565380.1_Missense_Mutation_p.R188T	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	960					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TGGTATAGACCTCTCCTGGCT	0.458																																						ENST00000263805.4																			0											c.(2878-2880)aGg>aCg		zinc finger protein 106							168	168	168					15																	42740457		2203	4299	6502	SO:0001583	missense	64397							g.chr15:42740457C>G	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"Zinc fingers, C2H2-type"	12886	protein-coding gene	gene with protein product	"SH3-domain binding protein 3"		"zinc finger protein 106 homolog (mouse)"	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.2879G>C	15.37:g.42740457C>G	ENSP00000263805:p.Arg960Thr					ZNF106_ENST00000565611.1_Missense_Mutation_p.R145T|ZNF106_ENST00000565380.1_Missense_Mutation_p.R188T	p.R960T	NM_022473.1	NP_071918.1					3	3205	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.2879G>C	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	C	6.261	0.416325	0.11870	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	T	0.41400	1.0	5.23	5.23	0.72850	.	0.639142	0.16605	N	0.207164	T	0.29524	0.0736	L	0.29908	0.895	0.30546	N	0.765982	B;B;B	0.17038	0.012;0.02;0.012	B;B;B	0.16722	0.01;0.016;0.01	T	0.10613	-1.0622	10	0.36615	T	0.2	0.1061	7.6266	0.28216	0.0:0.8641:0.0:0.1359	.	188;960;188	E9PE29;Q9H2Y7;B4DZ40	.;ZF106_HUMAN;.	T	960;188	ENSP00000263805:R960T	ENSP00000263805:R960T	R	-	2	0	ZFP106	40527749	0.048000	0.20356	0.936000	0.37596	0.023000	0.10783	1.552000	0.36244	2.709000	0.92574	0.655000	0.94253	AGG		0.458	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		61	89	0	0	0	1	0	61	89					G	42740457	C	G	42740457	3	3	1	1	0	0	0	0	1	0	0	0	17634	681	24	4	2840	4	ZFP106	15	42740457	Missense_Mutation	SNP	C	TCGA-4C-A93U-01A-11D-A397-08	8599894	42740457	59790935	54	54											
HERC1	8925	broad.mit.edu	37	chr15	63908060	63908060	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggatactatttccaccaggGattataggaaccattttgcc	9	9	0	0			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr15:63908060G>A	ENST00000443617.2	-	76	14088	c.14001C>T	c.(13999-14001)atC>atT	p.I4667I		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4667	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TTCCACCAGGGATTATAGGAA	0.403																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(13999-14001)atC>atT		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							72	63	66					15																	63908060		1881	4114	5995	SO:0001819	synonymous_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63908060G>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.14001C>T	15.37:g.63908060G>A							p.I4667I	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			76	14088	-			4667			HECT.		Q8IW65	Silent	SNP	ENST00000443617.2	37	c.14001C>T	CCDS45277.1																																																																																				0.403	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		4	10	0	0	0	1	0	4	10					A	63908060	G	A	63908060	2	1	1	1	0	0	0	0	0	0	0	1	7057	1164	41	2		2	HERC1	15	63908060	Silent	SNP	G	TCGA-4C-A93U-01A-11D-A397-08	21167603	63908060	38623332	55	55											
ANPEP	290	broad.mit.edu	37	chr15	90349724	90349724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctcctgggagtacaccaCtgacagtgcgatgattgtgc	11	11	1	2			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr15:90349724C>T	ENST00000300060.6	-	2	404	c.91G>A	c.(91-93)Gtg>Atg	p.V31M		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	31					angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	GAGTACACCACTGACAGTGCG	0.627																																					NSCLC(30;827 977 2459 19669 26125)	ENST00000300060.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57						c.(91-93)Gtg>Atg		alanyl (membrane) aminopeptidase	Ezetimibe(DB00973)						90	94	93					15																	90349724		2200	4299	6499	SO:0001583	missense	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90349724C>T	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"CD molecules"	500	protein-coding gene	gene with protein product	"aminopeptidase N", "aminopeptidase M", "microsomal aminopeptidase"	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.91G>A	15.37:g.90349724C>T	ENSP00000300060:p.Val31Met						p.V31M	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		2	404	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		31					Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	c.91G>A	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672673	0.47781	.	.	ENSG00000166825	ENST00000300060	T	0.01406	4.93	4.52	3.6	0.41247	.	0.000000	0.85682	D	0.000000	T	0.08313	0.0207	M	0.84433	2.695	0.44395	D	0.997304	D	0.89917	1.0	D	0.77004	0.989	T	0.00686	-1.1610	10	0.66056	D	0.02	.	10.2376	0.43292	0.0:0.9007:0.0:0.0993	.	31	P15144	AMPN_HUMAN	M	31	ENSP00000300060:V31M	ENSP00000300060:V31M	V	-	1	0	ANPEP	88150728	0.998000	0.40836	0.729000	0.30791	0.253000	0.25986	3.969000	0.56816	0.895000	0.36342	0.467000	0.42956	GTG		0.627	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			34	63	0	0	0	1	0	34	63					T	90349724	C	T	90349724	3	4	1	1	0	0	0	0	1	0	0	0	710	565	20	2	2892	2	ANPEP	15	90349724	Missense_Mutation	SNP	C	TCGA-4C-A93U-01A-11D-A397-08	26441664	90349724	12181668	56	56											
ABCC12	94160	broad.mit.edu	37	chr16	48125076	48125076	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggaggtgaatttggcttgCgtctctgttcccgttcgcac	12	11	1	1			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr16:48125076C>T	ENST00000311303.3	-	23	3585	c.3240G>A	c.(3238-3240)acG>acA	p.T1080T	ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1080	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)				ATTTGGCTTGCGTCTCTGTTC	0.532																																						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.(3238-3240)acG>acA		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							165	154	158					16																	48125076		2201	4300	6501	SO:0001819	synonymous_variant	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48125076C>T	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.3240G>A	16.37:g.48125076C>T						ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	p.T1080T	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			23	3585	-		all_cancers(37;0.0474)|all_lung(18;0.047)	1080			ABC transmembrane type-1 2.		Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	ENST00000311303.3	37	c.3240G>A	CCDS10730.1																																																																																				0.532	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		72	121	0	0	0	1	0	72	121					T	48125076	C	T	48125076	2	4	1	1	0	0	0	0	0	0	0	1	52	755	27	1		1	ABCC12	16	48125076	Silent	SNP	C	TCGA-4C-A93U-01A-11D-A397-08		48125076	42229677	57	57											
LLGL1	3996	broad.mit.edu	37	chr17	18145214	18145214	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccaggcttttacctgatatCcccatcagaatttgaacgct	6	13	1	3			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr17:18145214C>T	ENST00000316843.4	+	19	2879	c.2783C>T	c.(2782-2784)tCc>tTc	p.S928F		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	928					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					TACCTGATATCCCCATCAGAA	0.577																																						ENST00000316843.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(2782-2784)tCc>tTc		lethal giant larvae homolog 1 (Drosophila)							82	80	81					17																	18145214		2203	4300	6503	SO:0001583	missense	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18145214C>T		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"WD repeat domain containing"	6628	protein-coding gene	gene with protein product		600966	"lethal giant larvae (Drosophila) homolog 1"	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.2783C>T	17.37:g.18145214C>T	ENSP00000321537:p.Ser928Phe						p.S928F	NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN			19	2879	+	all_neural(463;0.228)		928					A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	ENST00000316843.4	37	c.2783C>T	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.540038	0.65085	.	.	ENSG00000131899	ENST00000316843	T	0.11063	2.81	5.2	5.2	0.72013	.	0.049133	0.85682	D	0.000000	T	0.41419	0.1158	M	0.86864	2.845	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.46665	-0.9175	10	0.87932	D	0	-34.933	19.1117	0.93318	0.0:1.0:0.0:0.0	.	928	Q15334	L2GL1_HUMAN	F	928	ENSP00000321537:S928F	ENSP00000321537:S928F	S	+	2	0	LLGL1	18085939	1.000000	0.71417	0.785000	0.31869	0.215000	0.24574	7.391000	0.79828	2.593000	0.87608	0.655000	0.94253	TCC		0.577	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			26	106	0	0	0	1	0	26	106					T	18145214	C	T	18145214	3	4	1	1	0	0	0	0	1	0	0	0	8833	855	30	2	2857	2	LLGL1	17	18145214	Missense_Mutation	SNP	C	TCGA-4C-A93U-01A-11D-A397-08		18145214	63049996	58	58											
KRTAP4-7	100132476	broad.mit.edu	37	chr17	39240809	39240809	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgccccagctgctgccgcccCtgctgctgcctgcgtccagt	11	20	0	0	rs543157226	byFrequency	TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr17:39240809C>A	ENST00000391417.4	+	1	351	c.351C>A	c.(349-351)ccC>ccA	p.P117P		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	142	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		Missing. {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						gctgccgcccctgctgctgcC	0.672													c|||	50	0.00998403	0.0363	0.0014	5008	,	,		10551	0		0.001	False		,,,				2504	0					ENST00000391417.4																			0				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(349-351)ccC>ccA		keratin associated protein 4-7							19	20	19					17																	39240809		692	1587	2279	SO:0001819	synonymous_variant	100132476							g.chr17:39240809C>A	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"Keratin associated proteins"	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.351C>A	17.37:g.39240809C>A							p.P117P	NM_033061.3	NP_149050.3					1	351	+								A0AVM6|A8MQ08|A8MTL4	Silent	SNP	ENST00000391417.4	37	c.351C>A	CCDS45673.1																																																																																				0.672	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			3	31	1	0	0.115264	1	0.115264	3	31					A	39240809	C	A	39240809	2	1	1	1	0	0	0	0	0	0	0	1	8555	668	24	4		4	KRTAP4-7	17	39240809	Silent	SNP	C	TCGA-4C-A93U-01A-11D-A397-08	21095595	39240809	41954401	59	59											
PLEKHH3	79990	broad.mit.edu	37	chr17	40822615	40822615	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaagaggaaaggcagttcGtgaccgtctggggacagccc	14	10	2	2			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr17:40822615G>A	ENST00000591022.1	-	10	1917	c.1530C>T	c.(1528-1530)caC>caT	p.H510H	PLEKHH3_ENST00000412503.1_Silent_p.H507H|PLEKHH3_ENST00000293349.6_Silent_p.H507H|PLEKHH3_ENST00000456950.2_5'UTR	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	510	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		AAGGCAGTTCGTGACCGTCTG	0.612																																						ENST00000293349.6																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13						c.(1519-1521)caC>caT		pleckstrin homology domain containing, family H (with MyTH4 domain) member 3							53	54	54					17																	40822615		2203	4300	6503	SO:0001819	synonymous_variant	79990				signal transduction	cytoskeleton		g.chr17:40822615G>A	BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"Pleckstrin homology (PH) domain containing"	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.1530C>T	17.37:g.40822615G>A						PLEKHH3_ENST00000591022.1_Silent_p.H510H|PLEKHH3_ENST00000412503.1_Silent_p.H507H|PLEKHH3_ENST00000456950.2_5'UTR	p.H507H			Q7Z736	PKHH3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	10	1951	-		Breast(137;0.00116)	510			FERM.		C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Silent	SNP	ENST00000591022.1	37	c.1521C>T	CCDS11434.1																																																																																				0.612	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1	NM_024927		30	41	0	0	0	1	0	30	41					A	40822615	G	A	40822615	2	1	1	1	0	0	0	0	0	0	0	1	12078	1136	40	1		1	PLEKHH3	17	40822615	Silent	SNP	G	TCGA-4C-A93U-01A-11D-A397-08	1581806	40822615	40372595	60	60											
ATP8B3	148229	broad.mit.edu	37	chr19	1811611	1811611	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccgtctcacctccgcggatgCcagcaggacctgagccttcc	10	18	1	1			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr19:1811611C>G	ENST00000310127.6	-	2	363	c.125G>C	c.(124-126)gGc>gCc	p.G42A	ATP8B3_ENST00000525591.1_5'UTR|ATP8B3_ENST00000526092.2_5'UTR|ATP8B3_ENST00000539485.1_Missense_Mutation_p.G42A	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	42					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		TCCGCGGATGCCAGCAGGACC	0.677																																						ENST00000539485.1																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(124-126)gGc>gCc		ATPase, aminophospholipid transporter, class I, type 8B, member 3							53	60	58					19																	1811611		2077	4201	6278	SO:0001583	missense	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1811611C>G	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"ATPases / P-type"	13535	protein-coding gene	gene with protein product	"aminophospholipid translocase ATP8B3", "potential phospholipid-transporting ATPase IK"	605866	"ATPase, Class I, type 8B, member 3", "ATPase, class I, type 8B, member 3"			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.125G>C	19.37:g.1811611C>G	ENSP00000311336:p.Gly42Ala					ATP8B3_ENST00000525591.1_5'UTR|ATP8B3_ENST00000526092.1_5'UTR|ATP8B3_ENST00000310127.6_Missense_Mutation_p.G42A	p.G42A			O60423	AT8B3_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)	2	358	-		Hepatocellular(1079;0.137)	42					Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.125G>C	CCDS45901.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	10.15|10.15	1.270316|1.270316	0.23221|0.23221	.|.	.|.	ENSG00000130270|ENSG00000130270	ENST00000533993|ENST00000310127;ENST00000539485	.|T;T	.|0.73681	.|-0.77;-0.77	2.42|2.42	0.826|0.826	0.18829|0.18829	.|.	.|.	.|.	.|.	.|.	T|T	0.44932|0.44932	0.1317|0.1317	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|P	.|0.40970	.|0.734	.|B	.|0.37015	.|0.239	T|T	0.36261|0.36261	-0.9755|-0.9755	5|9	.|0.10111	.|T	.|0.7	.|.	4.0543|4.0543	0.09810|0.09810	0.0:0.6782:0.0:0.3218|0.0:0.6782:0.0:0.3218	.|.	.|42	.|O60423	.|AT8B3_HUMAN	P|A	5|42	.|ENSP00000311336:G42A;ENSP00000443574:G42A	.|ENSP00000311336:G42A	A|G	-|-	1|2	0|0	ATP8B3|ATP8B3	1762611|1762611	0.000000|0.000000	0.05858|0.05858	0.006000|0.006000	0.13384|0.13384	0.007000|0.007000	0.05969|0.05969	-0.920000|-0.920000	0.04013|0.04013	0.277000|0.277000	0.22141|0.22141	0.561000|0.561000	0.74099|0.74099	GCA|GGC		0.677	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		8	23	0	0	0	1	0	8	23					G	1811611	C	G	1811611	3	3	1	1	0	0	0	0	1	0	0	0	1196	739	26	4	3937	4	ATP8B3	19	1811611	Missense_Mutation	SNP	C	TCGA-4C-A93U-01A-11D-A397-08		1811611	57317372	61	61											
TNPO2	30000	broad.mit.edu	37	chr19	12816128	12816128	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacgtgaccacccaggccctCggccaggccgctgagcagat	12	17	0	3			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr19:12816128C>T	ENST00000592287.1	-	17	2056	c.1948G>A	c.(1948-1950)Gag>Aag	p.E650K	TNPO2_ENST00000588216.1_Missense_Mutation_p.E650K|TNPO2_ENST00000441499.1_Missense_Mutation_p.E650K|TNPO2_ENST00000450764.2_Missense_Mutation_p.E650K|TNPO2_ENST00000425528.1_Missense_Mutation_p.E650K|SNORD41_ENST00000386967.1_RNA|TNPO2_ENST00000356861.5_Missense_Mutation_p.E650K	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	650					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)	p.E650*(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCCAGGCCCTCGGCCAGGCCG	0.602																																						ENST00000425528.1																			2	Substitution - Nonsense(2)	p.E650*(2)	lung(2)	autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1948-1950)Gag>Aag		transportin 2							26	28	28					19																	12816128		2151	4253	6404	SO:0001583	missense	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12816128C>T	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"Importins"	19998	protein-coding gene	gene with protein product	"importin 3", "karyopherin beta 2b"	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.1948G>A	19.37:g.12816128C>T	ENSP00000468434:p.Glu650Lys					TNPO2_ENST00000450764.2_Missense_Mutation_p.E650K|TNPO2_ENST00000356861.5_Missense_Mutation_p.E650K|TNPO2_ENST00000588216.1_Missense_Mutation_p.E650K|TNPO2_ENST00000592287.1_Missense_Mutation_p.E650K|TNPO2_ENST00000441499.1_Missense_Mutation_p.E650K	p.E650K			O14787	TNPO2_HUMAN			18	2305	-			650					O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	c.1948G>A	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244711	0.79912	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	5.64	5.64	0.86602	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80711	0.4675	M	0.89353	3.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.918;0.989	D	0.83652	0.0156	10	0.66056	D	0.02	-20.3413	18.4706	0.90773	0.0:1.0:0.0:0.0	.	814;650	Q4LE60;O14787	.;TNPO2_HUMAN	K	814;650;650;650;650;650;650	ENSP00000407182:E650K;ENSP00000389648:E650K;ENSP00000397379:E650K;ENSP00000349321:E650K	ENSP00000349321:E650K	E	-	1	0	TNPO2	12677128	1.000000	0.71417	0.994000	0.49952	0.109000	0.19521	7.461000	0.80834	2.654000	0.90174	0.563000	0.77884	GAG		0.602	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		9	4	0	0	0	1	0	9	4					T	12816128	C	T	12816128	3	4	1	1	0	0	0	0	1	0	0	0	16333	893	31	1	777	1	TNPO2	19	12816128	Missense_Mutation	SNP	C	TCGA-4C-A93U-01A-11D-A397-08	11004517	12816128	46312855	62	62											
ALKBH6	84964	broad.mit.edu	37	chr19	36501939	36501939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaccatccctcggggatgagGaagcccacctggggaaggca	14	12	0	1			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr19:36501939G>A	ENST00000252984.7	-	6	345	c.193C>T	c.(193-195)Cct>Tct	p.P65S	SYNE4_ENST00000340477.5_5'Flank|ALKBH6_ENST00000495116.2_Intron|ALKBH6_ENST00000486389.1_Missense_Mutation_p.P42S|ALKBH6_ENST00000485128.1_Missense_Mutation_p.P65S|ALKBH6_ENST00000378875.3_Missense_Mutation_p.P93S|AC002116.8_ENST00000473572.2_RNA|SYNE4_ENST00000324444.3_5'Flank			Q3KRA9	ALKB6_HUMAN	alkB, alkylation repair homolog 6 (E. coli)	65						cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|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)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CGGGGATGAGGAAGCCCACCT	0.602																																						ENST00000486389.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9						c.(124-126)Cct>Tct		alkB, alkylation repair homolog 6 (E. coli)							26	23	24					19																	36501939		2203	4298	6501	SO:0001583	missense	84964					cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr19:36501939G>A	BM713594	CCDS12485.2, CCDS74342.1	19q13.12	2008-02-05			ENSG00000239382	ENSG00000239382		"Alkylation repair homologs"	28243	protein-coding gene	gene with protein product		613304				8889548	Standard	NM_032878		Approved	MGC15677	uc002ocv.1	Q3KRA9	OTTHUMG00000048137	ENST00000252984.7:c.193C>T	19.37:g.36501939G>A	ENSP00000252984:p.Pro65Ser					ALKBH6_ENST00000485128.1_Missense_Mutation_p.P65S|ALKBH6_ENST00000378875.3_Missense_Mutation_p.P93S|AC002116.8_ENST00000473572.2_RNA|ALKBH6_ENST00000252984.7_Missense_Mutation_p.P65S|ALKBH6_ENST00000495116.2_Intron	p.P42S			Q3KRA9	ALKB6_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		4	872	-	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		65					A5LGM8|A6NLP1|A8MU96	Missense_Mutation	SNP	ENST00000252984.7	37	c.124C>T		.	.	.	.	.	.	.	.	.	.	G	19.50	3.840198	0.71488	.	.	ENSG00000239382	ENST00000378875;ENST00000485128;ENST00000252984;ENST00000433672	T;T;T	0.27557	2.91;1.66;1.66	5.06	5.06	0.68205	.	.	.	.	.	T	0.49966	0.1588	M	0.63208	1.945	0.58432	D	0.999998	D;D;P;D	0.89917	1.0;1.0;0.913;0.992	D;D;P;D	0.97110	1.0;1.0;0.591;0.934	T	0.36915	-0.9728	9	0.22109	T	0.4	.	13.9305	0.63991	0.0:0.0:1.0:0.0	.	65;86;93;65	B0AZV3;B4E3P3;Q3KRA9-2;Q3KRA9	.;.;.;ALKB6_HUMAN	S	93;65;65;65	ENSP00000368152:P93S;ENSP00000436742:P65S;ENSP00000252984:P65S	ENSP00000252984:P65S	P	-	1	0	ALKBH6	41193779	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	4.250000	0.58772	2.349000	0.79799	0.591000	0.81541	CCT		0.602	ALKBH6-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000109531.4	NM_032878		9	14	0	0	0	1	0	9	14					A	36501939	G	A	36501939	3	1	1	1	0	0	0	0	1	0	0	0	531	1174	41	2	535	2	ALKBH6	19	36501939	Missense_Mutation	SNP	G	TCGA-4C-A93U-01A-11D-A397-08	23685811	36501939	22627044	63	63											
ESF1	51575	broad.mit.edu	37	chr20	13753238	13753238	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcttccttcatcctctcCtttccaaattctgaaggata	4	13	4	1			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr20:13753238C>T	ENST00000202816.1	-	5	1280	c.1173G>A	c.(1171-1173)aaG>aaA	p.K391K		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	391					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TCATCCTCTCCTTTCCAAATT	0.353																																						ENST00000202816.1																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						c.(1171-1173)aaG>aaA		ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)							145	137	140					20																	13753238		2203	4300	6503	SO:0001819	synonymous_variant	51575				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		g.chr20:13753238C>T		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 6"	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.1173G>A	20.37:g.13753238C>T							p.K391K	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN			5	1280	-			391					Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Silent	SNP	ENST00000202816.1	37	c.1173G>A	CCDS13117.1																																																																																				0.353	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		12	77	0	0	0	1	0	12	77					T	13753238	C	T	13753238	2	4	1	1	0	0	0	0	0	0	0	1	5251	680	24	2		2	ESF1	20	13753238	Silent	SNP	C	TCGA-4C-A93U-01A-11D-A397-08		13753238	49272282	64	64											
PHACTR3	116154	broad.mit.edu	37	chr20	58349367	58349367	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtctgtcgagaacgtccagCgtggagcggggcaaggagag	18	9	1	2			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr20:58349367C>T	ENST00000371015.1	+	7	1463	c.996C>T	c.(994-996)agC>agT	p.S332S	PHACTR3_ENST00000361300.4_Silent_p.S221S|PHACTR3_ENST00000359926.3_Silent_p.S329S|PHACTR3_ENST00000395636.2_Silent_p.S291S|PHACTR3_ENST00000541461.1_Silent_p.S291S|PHACTR3_ENST00000355648.4_Silent_p.S291S|PHACTR3_ENST00000395639.4_Silent_p.S221S	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	332						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GAACGTCCAGCGTGGAGCGGG	0.522																																						ENST00000371015.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59						c.(994-996)agC>agT		phosphatase and actin regulator 3							84	83	83					20																	58349367		2203	4300	6503	SO:0001819	synonymous_variant	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58349367C>T	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"Phosphatase and actin regulators"	15833	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 123"	608725	"chromosome 20 open reading frame 101"	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.996C>T	20.37:g.58349367C>T						PHACTR3_ENST00000541461.1_Silent_p.S291S|PHACTR3_ENST00000355648.4_Silent_p.S291S|PHACTR3_ENST00000395636.2_Silent_p.S291S|PHACTR3_ENST00000395639.4_Silent_p.S221S|PHACTR3_ENST00000361300.4_Silent_p.S221S|PHACTR3_ENST00000359926.3_Silent_p.S329S	p.S332S	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		7	1463	+	all_lung(29;0.00344)		332					B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Silent	SNP	ENST00000371015.1	37	c.996C>T	CCDS13480.1																																																																																				0.522	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		27	43	0	0	0	1	0	27	43					T	58349367	C	T	58349367	2	4	1	1	0	0	0	0	0	0	0	1	11811	767	27	1		1	PHACTR3	20	58349367	Silent	SNP	C	TCGA-4C-A93U-01A-11D-A397-08	44596129	58349367	4676153	65	65											
MYT1	4661	broad.mit.edu	37	chr20	62839704	62839704	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcctcctggagcaggccatCgccctgaaggctgaacaggt	14	13	0	2			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr20:62839704C>T	ENST00000328439.1	+	7	1519	c.1155C>T	c.(1153-1155)atC>atT	p.I385I	MYT1_ENST00000536311.1_Silent_p.I385I|MYT1_ENST00000360149.4_Intron	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGCAGGCCATCGCCCTGAAGG	0.657																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(1153-1155)atC>atT		myelin transcription factor 1							59	52	55					20																	62839704		2203	4300	6503	SO:0001819	synonymous_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62839704C>T	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"Zinc fingers, C2HC-type containing"	7622	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 2"	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1155C>T	20.37:g.62839704C>T						MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.I385I	p.I385I			Q01538	MYT1_HUMAN			7	1519	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		385					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	c.1155C>T	CCDS13558.1																																																																																				0.657	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		22	40	0	0	0	1	0	22	40					T	62839704	C	T	62839704	2	4	1	1	0	0	0	0	0	0	0	1	10106	874	31	1		1	MYT1	20	62839704	Silent	SNP	C	TCGA-4C-A93U-01A-11D-A397-08	4490337	62839704	185816	66	66											
RCAN1	1827	broad.mit.edu	37	chr21	35895881	35895881	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcccagaaactcagtcttaTgcagctggagcctggcatct	9	12	3	1			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr21:35895881T>C	ENST00000313806.4	-	2	510	c.380A>G	c.(379-381)cAt>cGt	p.H127R	RCAN1_ENST00000381132.2_Missense_Mutation_p.H72R|RCAN1_ENST00000481448.1_Missense_Mutation_p.H117R|RCAN1_ENST00000381135.3_Missense_Mutation_p.H117R|RCAN1_ENST00000443408.2_5'UTR|RCAN1_ENST00000482533.1_5'UTR|RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000487990.1_5'UTR|RCAN1_ENST00000492600.1_Missense_Mutation_p.H72R|RCAN1_ENST00000399272.1_Missense_Mutation_p.H46R	NM_004414.5	NP_004405.3	P53805	RCAN1_HUMAN	regulator of calcineurin 1	127					blood circulation (GO:0008015)|calcineurin-NFAT signaling cascade (GO:0033173)|central nervous system development (GO:0007417)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of smooth muscle cell differentiation (GO:0051151)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|response to ischemia (GO:0002931)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|short-term memory (GO:0007614)|signal transduction (GO:0007165)|skeletal muscle fiber development (GO:0048741)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						CTCAGTCTTATGCAGCTGGAG	0.458																																						ENST00000481448.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						c.(349-351)cAt>cGt		regulator of calcineurin 1							134	128	130					21																	35895881		2203	4300	6503	SO:0001583	missense	1827				blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr21:35895881T>C		CCDS13637.1, CCDS33551.1, CCDS42921.1, CCDS74788.1, CCDS74790.1	21q22.1-q22.2	2010-08-11	2007-06-26	2007-06-26	ENSG00000159200	ENSG00000159200			3040	protein-coding gene	gene with protein product		602917	"Down syndrome critical region gene 1"	DSCR1		8595418	Standard	XM_005260929		Approved		uc002yue.3	P53805	OTTHUMG00000086235	ENST00000313806.4:c.380A>G	21.37:g.35895881T>C	ENSP00000320768:p.His127Arg					RCAN1_ENST00000482533.1_5'UTR|RCAN1_ENST00000443408.2_5'UTR|RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000313806.4_Missense_Mutation_p.H127R|RCAN1_ENST00000487990.1_5'UTR|RCAN1_ENST00000381132.2_Missense_Mutation_p.H72R|RCAN1_ENST00000381135.3_Missense_Mutation_p.H117R|RCAN1_ENST00000399272.1_Missense_Mutation_p.H46R	p.H117R			P53805	RCAN1_HUMAN			3	836	-			127					D3DSF9|O00582|O00583|Q53XT0|Q6IBC6|Q7Z555|Q96R03|Q9BU69|Q9UF15|Q9UME4	Missense_Mutation	SNP	ENST00000313806.4	37	c.350A>G	CCDS13637.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.611638	0.87258	.	.	ENSG00000159200	ENST00000313806;ENST00000381132;ENST00000399272;ENST00000481448;ENST00000381135	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.80924	0.4717	M	0.84773	2.715	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.968;0.991	D;D;D;D	0.91635	0.999;0.988;0.978;0.987	D	0.84379	0.0548	9	0.72032	D	0.01	-21.6641	14.8471	0.70267	0.0:0.0:0.0:1.0	.	72;127;46;72	B7Z1F0;P53805;P53805-3;Q6FGP2	.;RCAN1_HUMAN;.;.	R	127;72;46;117;117	.	ENSP00000320768:H127R	H	-	2	0	RCAN1	34817751	1.000000	0.71417	0.983000	0.44433	0.980000	0.70556	7.631000	0.83237	2.040000	0.60383	0.533000	0.62120	CAT		0.458	RCAN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194142.1			29	52	0	0	0	1	0	29	52					C	35895881	T	C	35895881	3	2	1	1	0	0	0	0	1	0	0	0	13168	1464	51	3	390	3	RCAN1	21	35895881	Missense_Mutation	SNP	T	TCGA-4C-A93U-01A-11D-A397-08		35895881	12234014	67	67											
ZNF711	7552	broad.mit.edu	37	chrX	84519424	84519424	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttaaagcggaggctgaagatGatgttgaaataggtacaaac	12	4	0	4			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chrX:84519424G>A	ENST00000373165.3	+	5	1072	c.766G>A	c.(766-768)Gat>Aat	p.D256N	ZNF711_ENST00000276123.3_Missense_Mutation_p.D256N|ZNF711_ENST00000360700.4_Missense_Mutation_p.D256N|ZNF711_ENST00000395402.1_Missense_Mutation_p.D234N|ZNF711_ENST00000542798.1_Missense_Mutation_p.D52N	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	256					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GGCTGAAGATGATGTTGAAAT	0.308																																						ENST00000360700.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						c.(766-768)Gat>Aat		zinc finger protein 711							66	59	61					X																	84519424		2201	4296	6497	SO:0001583	missense	7552				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chrX:84519424G>A	BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"Zinc fingers, C2H2-type"	13128	protein-coding gene	gene with protein product		314990	"zinc finger protein 6 (CMPX1)", "zinc finger protein 6"	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.766G>A	X.37:g.84519424G>A	ENSP00000362260:p.Asp256Asn					ZNF711_ENST00000276123.3_Missense_Mutation_p.D256N|ZNF711_ENST00000395402.1_Missense_Mutation_p.D234N|ZNF711_ENST00000373165.3_Missense_Mutation_p.D256N|ZNF711_ENST00000542798.1_Missense_Mutation_p.D52N	p.D256N			Q9Y462	ZN711_HUMAN			5	1652	+			256					B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	ENST00000373165.3	37	c.766G>A	CCDS35344.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.534056	0.85812	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700;ENST00000542798	T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52	4.81	4.81	0.61882	Transcriptional activator, Zfx / Zfy domain (1);	0.000000	0.45126	D	0.000394	T	0.72301	0.3443	M	0.73962	2.25	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.80764	0.961;0.994	T	0.74331	-0.3700	10	0.45353	T	0.12	-12.6314	17.3364	0.87282	0.0:0.0:1.0:0.0	.	256;256	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	N	234;256;256;256;52	ENSP00000378798:D234N;ENSP00000362260:D256N;ENSP00000276123:D256N;ENSP00000353922:D256N;ENSP00000442071:D52N	ENSP00000276123:D256N	D	+	1	0	ZNF711	84406080	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	9.025000	0.93694	2.105000	0.64084	0.506000	0.49869	GAT		0.308	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2	NM_021998		14	24	0	0	0	1	0	14	24					A	84519424	G	A	84519424	3	1	1	1	0	0	0	0	1	0	0	0	18113	1290	45	2	776	2	ZNF711	23	84519424	Missense_Mutation	SNP	G	TCGA-4C-A93U-01A-11D-A397-08		84519424	70751136	68	68											
CAMSAP1L1	23271	broad.mit.edu	37	chr1	200825160	200825160	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagagtctgtagaaggcttcTtatctccaagtcgttgtggc	11	9	3	2			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr1:200825160T>G	ENST00000236925.4	+	16	4001	c.3952T>G	c.(3952-3954)Tta>Gta	p.L1318V	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.L1291V|CAMSAP2_ENST00000358823.2_Missense_Mutation_p.L1307V			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1318					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										AGAAGGCTTCTTATCTCCAAG	0.388																																						ENST00000358823.2																			0											c.(3919-3921)Tta>Gta		calmodulin regulated spectrin-associated protein family, member 2							138	158	151					1																	200825160		2203	4300	6503	SO:0001583	missense	23271					cytoplasm|microtubule	protein binding	g.chr1:200825160T>G	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"calmodulin regulated spectrin-associated protein 1-like 1"	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.3952T>G	1.37:g.200825160T>G	ENSP00000236925:p.Leu1318Val					CAMSAP2_ENST00000413307.2_Missense_Mutation_p.L1291V|CAMSAP2_ENST00000236925.4_Missense_Mutation_p.L1318V	p.L1307V	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN			15	4189	+			1318					B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	ENST00000236925.4	37	c.3919T>G		.	.	.	.	.	.	.	.	.	.	T	13.27	2.186082	0.38609	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.14766	2.5;2.48;2.49	5.36	0.414	0.16406	.	0.066702	0.64402	D	0.000015	T	0.11793	0.0287	L	0.54323	1.7	0.52501	D	0.999954	B;B;B	0.22541	0.014;0.042;0.071	B;B;B	0.28139	0.037;0.04;0.086	T	0.12344	-1.0551	10	0.29301	T	0.29	-14.1698	5.4833	0.16735	0.1257:0.3504:0.0:0.5239	.	1291;1318;1307	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	V	1307;1291;1318	ENSP00000351684:L1307V;ENSP00000416800:L1291V;ENSP00000236925:L1318V	ENSP00000236925:L1318V	L	+	1	2	CAMSAP1L1	199091783	0.915000	0.31059	0.833000	0.33012	0.964000	0.63967	0.099000	0.15210	-0.109000	0.12044	0.533000	0.62120	TTA		0.388	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		6	288	0	0	0	0.02938	0	6	288					G	200825160	T	G	200825160	3	3	2	1	0	0	0	0	1	0	0	0	2612	1606	56	5	3977	5	CAMSAP1L1	1	200825160	Missense_Mutation	SNP	T	TCGA-BJ-A0YZ-01A-11D-A10S-08		200825160	48425461	1	69											
ZP4	57829	broad.mit.edu	37	chr1	238045749	238045749	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cacatttggtctgggcaactCttctgtttcttgacagccaa	8	11	4	1			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr1:238045749C>T	ENST00000366570.4	-	12	1754	c.1596G>A	c.(1594-1596)aaG>aaA	p.K532K	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	532					acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CTGGGCAACTCTTCTGTTTCT	0.443																																					NSCLC(166;160 2029 11600 18754 19936)	ENST00000366570.4																			0				breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(1594-1596)aaG>aaA		zona pellucida glycoprotein 4							144	146	146					1																	238045749		2203	4300	6503	SO:0001819	synonymous_variant	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238045749C>T	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"Zona pellucida glycoproteins"	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.1596G>A	1.37:g.238045749C>T						RP11-193H5.1_ENST00000450451.1_RNA	p.K532K	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		12	1754	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	532					B2RAE1	Silent	SNP	ENST00000366570.4	37	c.1596G>A	CCDS1615.1																																																																																				0.443	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			5	209	0	0	0	0.014758	0	5	209					T	238045749	C	T	238045749	2	4	2	1	0	0	0	0	0	0	0	1	18215	912	32	2		2	ZP4	1	238045749	Silent	SNP	C	TCGA-BJ-A0YZ-01A-11D-A10S-08	37220589	238045749	11204872	2	70											
MRPS5	64969	broad.mit.edu	37	chr2	95773945	95773945	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggaccagggtcagggggGccaagactgatgcctcccca	15	13	1	2			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr2:95773945G>A	ENST00000272418.2	-	5	820	c.612C>T	c.(610-612)ggC>ggT	p.G204G		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	204					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GGTCAGGGGGGCCAAGACTGA	0.488																																						ENST00000272418.2																			0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(610-612)ggC>ggT		mitochondrial ribosomal protein S5							147	123	131					2																	95773945		2203	4300	6503	SO:0001819	synonymous_variant	64969				translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome	g.chr2:95773945G>A	AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"Mitochondrial ribosomal proteins / small subunits"	14498	protein-coding gene	gene with protein product	"mitochondrial 28S ribosomal protein S5"	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.612C>T	2.37:g.95773945G>A							p.G204G	NM_031902.3	NP_114108.1	P82675	RT05_HUMAN			5	820	-			204					Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Silent	SNP	ENST00000272418.2	37	c.612C>T	CCDS2010.1																																																																																				0.488	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252772.1	NM_031902		4	130	0	0	0	0.021553	0	4	130					A	95773945	G	A	95773945	2	1	2	1	0	0	0	0	0	0	0	1	9846	1190	42	2		2	MRPS5	2	95773945	Silent	SNP	G	TCGA-BJ-A0YZ-01A-11D-A10S-08		95773945	147425428	3	71											
SCN1A	6323	broad.mit.edu	37	chr2	166894497	166894497	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatctttgtagcttttaccaAagagctgcatgccgaccacg	8	11	1	1			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr2:166894497A>G	ENST00000303395.4	-	15	2734	c.2735T>C	c.(2734-2736)tTt>tCt	p.F912S	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.F901S|SCN1A_ENST00000409050.1_Missense_Mutation_p.F884S|SCN1A_ENST00000423058.2_Missense_Mutation_p.F912S|AC010127.3_ENST00000595268.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	912					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)	GCTTTTACCAAAGAGCTGCAT	0.478																																						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.(2734-2736)tTt>tCt		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						155	141	146					2																	166894497		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166894497A>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.2735T>C	2.37:g.166894497A>G	ENSP00000303540:p.Phe912Ser					SCN1A_ENST00000375405.3_Missense_Mutation_p.F901S|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.F884S|SCN1A_ENST00000303395.4_Missense_Mutation_p.F912S|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA	p.F912S	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			15	2752	-			912					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.2735T>C	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.618173	0.87359	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.99143	-5.48;-5.48;-5.48;-5.48	5.08	5.08	0.68730	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.99667	0.9876	H	0.99675	4.695	0.80722	D	1	B;D;D	0.89917	0.194;0.999;1.0	B;D;D	0.87578	0.132;0.997;0.998	D	0.97078	0.9782	10	0.87932	D	0	.	15.1254	0.72478	1.0:0.0:0.0:0.0	.	901;884;912	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	S	912;912;901;884	ENSP00000407030:F912S;ENSP00000303540:F912S;ENSP00000364554:F901S;ENSP00000386312:F884S	ENSP00000303540:F912S	F	-	2	0	SCN1A	166602743	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.226000	0.95229	2.042000	0.60477	0.482000	0.46254	TTT		0.478	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		35	117	0	0	0	0.069456	0	35	117					G	166894497	A	G	166894497	3	3	2	1	0	0	0	0	1	0	0	0	13914	14	1	3	3342	3	SCN1A	2	166894497	Missense_Mutation	SNP	A	TCGA-BJ-A0YZ-01A-11D-A10S-08	71120552	166894497	76304876	4	72											
SSFA2	6744	broad.mit.edu	37	chr2	182783539	182783539	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaatttgtttagaacacaaAtgatggatttagaattggca	9	3	0	4			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr2:182783539A>G	ENST00000431877.2	+	13	3102	c.2923A>G	c.(2923-2925)Atg>Gtg	p.M975V	SSFA2_ENST00000409001.1_Missense_Mutation_p.M975V|SSFA2_ENST00000428267.2_Missense_Mutation_p.M822V|SSFA2_ENST00000409136.1_Missense_Mutation_p.M484V|SSFA2_ENST00000320370.7_Missense_Mutation_p.M975V	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	975						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TAGAACACAAATGATGGATTT	0.373																																						ENST00000431877.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38						c.(2923-2925)Atg>Gtg		sperm specific antigen 2							70	71	71					2																	182783539		2203	4300	6503	SO:0001583	missense	6744					cytoplasm|plasma membrane	actin binding	g.chr2:182783539A>G	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"cleavage signal-1 protein", "KRAS-induced actin-interacting protein", "sperm associated antigen 13"	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.2923A>G	2.37:g.182783539A>G	ENSP00000388731:p.Met975Val					SSFA2_ENST00000428267.2_Missense_Mutation_p.M822V|SSFA2_ENST00000320370.7_Missense_Mutation_p.M975V|SSFA2_ENST00000409136.1_Missense_Mutation_p.M484V|SSFA2_ENST00000409001.1_Missense_Mutation_p.M975V	p.M975V	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)		13	3102	+			975					A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	37	c.2923A>G	CCDS46467.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.8|21.8	4.208844|4.208844	0.79240|0.79240	.|.	.|.	ENSG00000138434|ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136|ENST00000457421	T;T;T;T;T|.	0.34072|.	1.38;1.38;1.38;1.38;1.38|.	6.11|6.11	6.11|6.11	0.99139|0.99139	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75968|0.75968	0.3922|0.3922	M|M	0.74881|0.74881	2.28|2.28	0.54753|0.54753	D|D	0.999985|0.999985	D;D;D;D;D|.	0.71674|.	0.998;0.99;0.998;0.998;0.998|.	D;D;D;D;D|.	0.76071|.	0.987;0.979;0.987;0.987;0.987|.	T|T	0.75844|0.75844	-0.3174|-0.3174	10|5	0.56958|.	D|.	0.05|.	-19.6247|-19.6247	16.7021|16.7021	0.85357|0.85357	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	822;484;975;975;975|.	E7END2;E7EUL7;E9PHV5;P28290;P28290-3|.	.;.;.;SSFA2_HUMAN;.|.	V|S	975;975;975;822;484|13	ENSP00000388731:M975V;ENSP00000314669:M975V;ENSP00000387319:M975V;ENSP00000409867:M822V;ENSP00000386916:M484V|.	ENSP00000314669:M975V|.	M|N	+|+	1|2	0|0	SSFA2|SSFA2	182491784|182491784	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.810000|7.810000	0.86072|0.86072	2.343000|2.343000	0.79666|0.79666	0.533000|0.533000	0.62120|0.62120	ATG|AAT		0.373	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		3	99	0	0	0	0.115264	0	3	99					G	182783539	A	G	182783539	3	3	2	1	0	0	0	0	1	0	0	0	15182	101	4	3	2973	3	SSFA2	2	182783539	Missense_Mutation	SNP	A	TCGA-BJ-A0YZ-01A-11D-A10S-08	15889042	182783539	60415834	5	73											
NEK10	152110	broad.mit.edu	37	chr3	27332763	27332763	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggaaagtcaccttgtaaacaCagccaaaagctccacttcca	6	13	1	0	rs547879901		TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr3:27332763C>G	ENST00000429845.2	-	19	1957	c.1595G>C	c.(1594-1596)tGt>tCt	p.C532S	NEK10_ENST00000357467.2_5'UTR|NEK10_ENST00000341435.5_Missense_Mutation_p.C532S			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	532	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTTGTAAACACAGCCAAAAGC	0.383																																						ENST00000429845.2																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1594-1596)tGt>tCt		NIMA-related kinase 10							128	118	121					3																	27332763		1568	3582	5150	SO:0001583	missense	152110						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr3:27332763C>G	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"NIMA (never in mitosis gene a)- related kinase 10"			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.1595G>C	3.37:g.27332763C>G	ENSP00000395849:p.Cys532Ser					NEK10_ENST00000341435.5_Missense_Mutation_p.C532S|NEK10_ENST00000357467.2_5'UTR	p.C532S			Q6ZWH5	NEK10_HUMAN			19	1957	-			532			Protein kinase.		A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	ENST00000429845.2	37	c.1595G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.14|11.14	1.551507|1.551507	0.27739|0.27739	.|.	.|.	ENSG00000163491|ENSG00000163491	ENST00000341435;ENST00000396636|ENST00000424275	T|.	0.63096|.	-0.02|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.101452|.	0.64402|.	N|.	0.000009|.	T|T	0.32852|0.32852	0.0843|0.0843	N|N	0.01576|0.01576	-0.805|-0.805	0.80722|0.80722	D|D	1|1	B|.	0.11235|.	0.004|.	B|.	0.16289|.	0.015|.	T|T	0.35375|0.35375	-0.9791|-0.9791	10|5	0.02654|.	T|.	1|.	.|.	19.7321|19.7321	0.96186|0.96186	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	532|.	Q6ZWH5|.	NEK10_HUMAN|.	S|L	532|65	ENSP00000343847:C532S|.	ENSP00000343847:C532S|.	C|V	-|-	2|1	0|0	NEK10|NEK10	27307767|27307767	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.264000|4.264000	0.58859|0.58859	2.652000|2.652000	0.90054|0.90054	0.650000|0.650000	0.86243|0.86243	TGT|GTG		0.383	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534		8	45	0	0	0	0.047766	0	8	45					G	27332763	C	G	27332763	3	3	2	1	0	0	0	0	1	0	0	0	10322	478	17	4	571	4	NEK10	3	27332763	Missense_Mutation	SNP	C	TCGA-BJ-A0YZ-01A-11D-A10S-08		27332763	170689667	6	74											
HTR3C	170572	broad.mit.edu	37	chr3	183777748	183777748	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcttcactccctgctgctccActgcaccagcccagggagat	9	17	1	1			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr3:183777748A>T	ENST00000318351.1	+	8	1092	c.1058A>T	c.(1057-1059)cAc>cTc	p.H353L		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	353					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CTGCTGCTCCACTGCACCAGC	0.642																																						ENST00000318351.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32						c.(1057-1059)cAc>cTc		5-hydroxytryptamine (serotonin) receptor 3C, ionotropic							67	62	64					3																	183777748		2203	4295	6498	SO:0001583	missense	170572					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183777748A>T	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24003	protein-coding gene	gene with protein product		610121	"5-hydroxytryptamine (serotonin) receptor 3, family member C"			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.1058A>T	3.37:g.183777748A>T	ENSP00000322617:p.His353Leu						p.H353L	NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		8	1092	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		353					A2RRR5	Missense_Mutation	SNP	ENST00000318351.1	37	c.1058A>T	CCDS3250.1	.	.	.	.	.	.	.	.	.	.	A	9.081	0.999307	0.19121	.	.	ENSG00000178084	ENST00000318351	D	0.85556	-2.0	3.68	-1.93	0.07594	Neurotransmitter-gated ion-channel transmembrane domain (2);	2.318280	0.01627	N	0.023341	D	0.84960	0.5588	M	0.66939	2.045	0.09310	N	1	B	0.23316	0.083	B	0.39339	0.297	T	0.64719	-0.6341	10	0.51188	T	0.08	.	0.5472	0.00656	0.4367:0.1769:0.2146:0.1718	.	353	Q8WXA8	5HT3C_HUMAN	L	353	ENSP00000322617:H353L	ENSP00000322617:H353L	H	+	2	0	HTR3C	185260442	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.662000	0.05305	-0.221000	0.09973	-1.400000	0.01143	CAC		0.642	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770		23	50	0	0	0	0.0918	0	23	50					T	183777748	A	T	183777748	3	4	2	1	0	0	0	0	1	0	0	0	7446	159	6	5	1088	5	HTR3C	3	183777748	Missense_Mutation	SNP	A	TCGA-BJ-A0YZ-01A-11D-A10S-08	156444985	183777748	14244682	7	75											
EIF4G1	1981	broad.mit.edu	37	chr3	184040719	184040719	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccagagggattgccacatAtcagtgacgtggtgctggac	14	9	1	2			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr3:184040719A>G	ENST00000346169.2	+	13	2177	c.1906A>G	c.(1906-1908)Atc>Gtc	p.I636V	EIF4G1_ENST00000424196.1_Missense_Mutation_p.I643V|EIF4G1_ENST00000434061.2_Missense_Mutation_p.I440V|EIF4G1_ENST00000411531.1_Missense_Mutation_p.I596V|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000414031.1_Missense_Mutation_p.I596V|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000319274.6_Missense_Mutation_p.I636V|EIF4G1_ENST00000342981.4_Missense_Mutation_p.I636V|EIF4G1_ENST00000392537.2_Missense_Mutation_p.I549V|EIF4G1_ENST00000435046.2_Missense_Mutation_p.I440V|EIF4G1_ENST00000427845.1_Missense_Mutation_p.I549V|EIF4G1_ENST00000350481.5_Missense_Mutation_p.I472V|EIF4G1_ENST00000352767.3_Missense_Mutation_p.I643V|EIF4G1_ENST00000441154.1_Missense_Mutation_p.I472V|EIF4G1_ENST00000382330.3_Missense_Mutation_p.I643V	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	636	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|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)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATTGCCACATATCAGTGACGT	0.507																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(1906-1908)Atc>Gtc		eukaryotic translation initiation factor 4 gamma, 1							197	186	190					3																	184040719		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184040719A>G	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.1906A>G	3.37:g.184040719A>G	ENSP00000316879:p.Ile636Val					EIF4G1_ENST00000427845.1_Missense_Mutation_p.I549V|EIF4G1_ENST00000352767.3_Missense_Mutation_p.I643V|EIF4G1_ENST00000382330.3_Missense_Mutation_p.I643V|EIF4G1_ENST00000319274.6_Missense_Mutation_p.I636V|EIF4G1_ENST00000414031.1_Missense_Mutation_p.I596V|EIF4G1_ENST00000441154.1_Missense_Mutation_p.I472V|EIF4G1_ENST00000392537.2_Missense_Mutation_p.I549V|EIF4G1_ENST00000424196.1_Missense_Mutation_p.I643V|EIF4G1_ENST00000346169.2_Missense_Mutation_p.I636V|EIF4G1_ENST00000411531.1_Missense_Mutation_p.I596V|EIF4G1_ENST00000350481.5_Missense_Mutation_p.I472V|EIF4G1_ENST00000435046.2_Missense_Mutation_p.I440V|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000434061.2_Missense_Mutation_p.I440V	p.I636V	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		12	2320	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		636			MIF4G.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.1906A>G	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	A	19.92	3.916999	0.73098	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;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;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.64091	0.2567	M	0.65975	2.015	0.58432	D	0.999999	D;D;D;D	0.67145	0.996;0.996;0.996;0.996	D;D;D;D	0.81914	0.992;0.995;0.995;0.995	T	0.59700	-0.7405	10	0.13853	T	0.58	-12.5475	15.5933	0.76558	1.0:0.0:0.0:0.0	.	643;636;636;643	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	V	636;596;549;636;643;643;577;472;643;549;636;636;643;596;472;472;440;440	ENSP00000316879:I636V;ENSP00000391935:I596V;ENSP00000376320:I549V;ENSP00000391412:I636V;ENSP00000413159:I643V;ENSP00000371767:I643V;ENSP00000403269:I577V;ENSP00000317600:I472V;ENSP00000338020:I643V;ENSP00000407682:I549V;ENSP00000343450:I636V;ENSP00000323737:I636V;ENSP00000416255:I643V;ENSP00000395974:I596V;ENSP00000398145:I472V;ENSP00000399858:I472V;ENSP00000411826:I440V;ENSP00000404754:I440V	ENSP00000323737:I636V	I	+	1	0	EIF4G1	185523413	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	8.761000	0.91691	2.270000	0.75569	0.460000	0.39030	ATC		0.507	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		6	285	0	0	0	0.021553	0	6	285					G	184040719	A	G	184040719	3	3	2	1	0	0	0	0	1	0	0	0	5036	449	16	3	1948	3	EIF4G1	3	184040719	Missense_Mutation	SNP	A	TCGA-BJ-A0YZ-01A-11D-A10S-08	262971	184040719	13981711	8	76											
FRYL	285527	broad.mit.edu	37	chr4	48591854	48591854	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaaatgtctgaggatgctAtctaatgcttttcttacttg	7	8	3	1			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr4:48591854A>G	ENST00000503238.1	-	15	1547	c.1548T>C	c.(1546-1548)gaT>gaC	p.D516D	FRYL_ENST00000506685.1_Silent_p.D222D|FRYL_ENST00000358350.4_Silent_p.D516D|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Silent_p.D516D|FRYL_ENST00000537810.1_Silent_p.D516D			O94915	FRYL_HUMAN	FRY-like	516					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TGAGGATGCTATCTAATGCTT	0.353																																						ENST00000358350.4																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(1546-1548)gaT>gaC		FRY-like							186	171	176					4																	48591854		1861	4102	5963	SO:0001819	synonymous_variant	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48591854A>G	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.1548T>C	4.37:g.48591854A>G						FRYL_ENST00000503238.1_Silent_p.D516D|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000506685.1_Silent_p.D222D|FRYL_ENST00000507711.1_Silent_p.D516D|FRYL_ENST00000537810.1_Silent_p.D516D	p.D516D	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN			18	2152	-			516					O95640|Q8WTZ5|Q9NT40	Silent	SNP	ENST00000503238.1	37	c.1548T>C	CCDS43227.1																																																																																				0.353	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			4	249	0	0	0	0.021553	0	4	249					G	48591854	A	G	48591854	2	3	2	1	0	0	0	0	0	0	0	1	6064	446	16	3		3	FRYL	4	48591854	Silent	SNP	A	TCGA-BJ-A0YZ-01A-11D-A10S-08		48591854	142562422	9	77											
DNAH5	1767	broad.mit.edu	37	chr5	13751210	13751210	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctctgtgagaatgacccTccccagtaactgatcttcta	6	13	3	3			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr5:13751210T>C	ENST00000265104.4	-	65	11292	c.11188A>G	c.(11188-11190)Agg>Ggg	p.R3730G		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3730	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGAATGACCCTCCCCAGTAAC	0.443									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(11188-11190)Agg>Ggg		dynein, axonemal, heavy chain 5							137	128	131					5																	13751210		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13751210T>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.11188A>G	5.37:g.13751210T>C	ENSP00000265104:p.Arg3730Gly						p.R3730G	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			65	11292	-	Lung NSC(4;0.00476)		3730			AAA 5 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.11188A>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.489428	0.84962	.	.	ENSG00000039139	ENST00000265104	T	0.21361	2.01	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.45637	0.1352	M	0.89785	3.06	0.80722	D	1	P	0.39352	0.669	P	0.48089	0.566	T	0.53315	-0.8456	10	0.59425	D	0.04	.	15.8087	0.78538	0.0:0.0:0.0:1.0	.	3730	Q8TE73	DYH5_HUMAN	G	3730	ENSP00000265104:R3730G	ENSP00000265104:R3730G	R	-	1	2	DNAH5	13804210	0.996000	0.38824	1.000000	0.80357	0.926000	0.56050	2.452000	0.44961	2.191000	0.70037	0.528000	0.53228	AGG		0.443	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		32	70	0	0	0	0.069456	0	32	70					C	13751210	T	C	13751210	3	2	2	1	0	0	0	0	1	0	0	0	4604	1550	54	3	2746	3	DNAH5	5	13751210	Missense_Mutation	SNP	T	TCGA-BJ-A0YZ-01A-11D-A10S-08		13751210	167164050	10	78											
ZFAND3	60685	broad.mit.edu	37	chr6	38029485	38029485	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atacctcgataaccacgccaActcttagtcccagccagcag	6	16	1	0			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr6:38029485A>G	ENST00000287218.4	+	3	676	c.229A>G	c.(229-231)Act>Gct	p.T77A	ZFAND3_ENST00000373391.2_Missense_Mutation_p.T77A	NM_021943.2	NP_068762.1	Q9H8U3	ZFAN3_HUMAN	zinc finger, AN1-type domain 3	77							DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						AACCACGCCAACTCTTAGTCC	0.493																																						ENST00000287218.4																			0				endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						c.(229-231)Act>Gct		zinc finger, AN1-type domain 3							97	84	88					6																	38029485		2203	4300	6503	SO:0001583	missense	60685						DNA binding|zinc ion binding	g.chr6:38029485A>G	AK023284	CCDS4836.1	6p21.2	2013-09-19	2005-12-15	2005-12-15	ENSG00000156639	ENSG00000156639		"Zinc fingers, AN1-type domain containing"	18019	protein-coding gene	gene with protein product		607455	"testis expressed sequence 27"	TEX27			Standard	NM_021943		Approved	FLJ13222	uc003onx.3	Q9H8U3	OTTHUMG00000014629	ENST00000287218.4:c.229A>G	6.37:g.38029485A>G	ENSP00000287218:p.Thr77Ala					ZFAND3_ENST00000373391.2_Missense_Mutation_p.T77A	p.T77A	NM_021943.2	NP_068762.1	Q9H8U3	ZFAN3_HUMAN			3	676	+			77					Q5SZZ0|Q5SZZ1	Missense_Mutation	SNP	ENST00000287218.4	37	c.229A>G	CCDS4836.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.24|12.24	1.877352|1.877352	0.33162|0.33162	.|.	.|.	ENSG00000156639|ENSG00000156639	ENST00000373389|ENST00000287218;ENST00000373391;ENST00000474522	.|T	.|0.41758	.|0.99	5.43|5.43	4.27|4.27	0.50696|0.50696	.|.	.|0.370552	.|0.30252	.|N	.|0.010043	T|T	0.07548|0.07548	0.0190|0.0190	N|N	0.08118|0.08118	0|0	0.38547|0.38547	D|D	0.949361|0.949361	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.18524|0.18524	-1.0334|-1.0334	5|10	.|0.09084	.|T	.|0.74	-0.7091|-0.7091	9.3104|9.3104	0.37900|0.37900	0.8419:0.0:0.1581:0.0|0.8419:0.0:0.1581:0.0	.|.	.|77	.|Q9H8U3	.|ZFAN3_HUMAN	S|A	53|77;77;108	.|ENSP00000420240:T108A	.|ENSP00000287218:T77A	N|T	+|+	2|1	0|0	ZFAND3|ZFAND3	38137463|38137463	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	2.317000|2.317000	0.43770|0.43770	1.000000|1.000000	0.39049|0.39049	0.383000|0.383000	0.25322|0.25322	AAC|ACT		0.493	ZFAND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040424.3	NM_021943		15	49	0	0	0	0.132662	0	15	49					G	38029485	A	G	38029485	3	3	2	1	0	0	0	0	1	0	0	0	17626	43	2	3	239	3	ZFAND3	6	38029485	Missense_Mutation	SNP	A	TCGA-BJ-A0YZ-01A-11D-A10S-08		38029485	133085582	11	79											
PTPRK	5796	broad.mit.edu	37	chr6	128540102	128540102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagcaaaattggacacaccgGaacctcgttctgactgagtt	10	10	1	2			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr6:128540102G>A	ENST00000368215.3	-	6	832	c.833C>T	c.(832-834)tCc>tTc	p.S278F	PTPRK_ENST00000368213.5_Missense_Mutation_p.S278F|PTPRK_ENST00000368210.3_Missense_Mutation_p.S278F|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368227.3_Missense_Mutation_p.S278F|PTPRK_ENST00000532331.1_Missense_Mutation_p.S278F|PTPRK_ENST00000368207.3_Missense_Mutation_p.S278F|PTPRK_ENST00000368226.4_Missense_Mutation_p.S278F			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	278	Ig-like C2-type.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GGACACACCGGAACCTCGTTC	0.398																																						ENST00000368227.3																		PTPRK/RSPO3(10)	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(832-834)tCc>tTc		protein tyrosine phosphatase, receptor type, K							160	142	148					6																	128540102		2203	4300	6503	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128540102G>A	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.833C>T	6.37:g.128540102G>A	ENSP00000357198:p.Ser278Phe					PTPRK_ENST00000532331.1_Missense_Mutation_p.S278F|PTPRK_ENST00000368207.3_Missense_Mutation_p.S278F|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368213.5_Missense_Mutation_p.S278F|PTPRK_ENST00000368210.3_Missense_Mutation_p.S278F|PTPRK_ENST00000368226.4_Missense_Mutation_p.S278F|PTPRK_ENST00000368215.3_Missense_Mutation_p.S278F	p.S278F			Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	6	1199	-			278			Ig-like C2-type.		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.833C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.9|24.9	4.584439|4.584439	0.86748|0.86748	.|.	.|.	ENSG00000152894|ENSG00000152894	ENST00000490332|ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	.|T;T;T;T;T;T;T	.|0.16073	.|2.37;2.37;2.37;2.37;2.37;2.37;2.37	4.78|4.78	4.78|4.78	0.61160|0.61160	.|Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.20901|0.20901	0.0503|0.0503	L|L	0.48642|0.48642	1.525|1.525	0.50313|0.50313	D|D	0.999868|0.999868	.|P;D;D;D;P;P	.|0.69078	.|0.878;0.997;0.997;0.997;0.57;0.514	.|P;D;D;D;P;B	.|0.68943	.|0.73;0.961;0.935;0.921;0.567;0.431	T|T	0.03423|0.03423	-1.1038|-1.1038	5|10	.|0.12103	.|T	.|0.63	.|.	17.8323|17.8323	0.88686|0.88686	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|278;278;278;135;278;278	.|B4DHC3;B7ZMG0;Q15262-3;F5GWP2;Q15262;Q15262-2	.|.;.;.;.;PTPRK_HUMAN;.	S|F	95|278;278;278;278;278;278;278;135	.|ENSP00000357209:S278F;ENSP00000357210:S278F;ENSP00000432973:S278F;ENSP00000357196:S278F;ENSP00000357193:S278F;ENSP00000357198:S278F;ENSP00000357190:S278F	.|ENSP00000357190:S278F	P|S	-|-	1|2	0|0	PTPRK|PTPRK	128581795|128581795	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.975000|0.975000	0.68041|0.68041	9.457000|9.457000	0.97630|0.97630	2.189000|2.189000	0.69895|0.69895	0.455000|0.455000	0.32223|0.32223	CCG|TCC		0.398	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			41	158	0	0	0	0.117977	0	41	158					A	128540102	G	A	128540102	3	1	2	1	0	0	0	0	1	0	0	0	12805	1174	41	2	3611	2	PTPRK	6	128540102	Missense_Mutation	SNP	G	TCGA-BJ-A0YZ-01A-11D-A10S-08	90510617	128540102	42574965	12	80											
C7orf10	79783	broad.mit.edu	37	chr7	40899976	40899976	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccgcccccgctgctcggGcagcacacaacgcacatcct	10	19	0	0			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr7:40899976G>A	ENST00000335693.4	+	14	1259	c.1236G>A	c.(1234-1236)ggG>ggA	p.G412G	C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000309930.5_Silent_p.G438G|C7orf10_ENST00000401647.2_Silent_p.G364G	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		412					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						CGCTGCTCGGGCAGCACACAA	0.572																																						ENST00000309930.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						c.(1312-1314)ggG>ggA		chromosome 7 open reading frame 10							99	110	106					7																	40899976		2107	4229	6336	SO:0001819	synonymous_variant	79783						transferase activity	g.chr7:40899976G>A																												ENST00000335693.4:c.1236G>A	7.37:g.40899976G>A						C7orf10_ENST00000401647.2_Silent_p.G364G|C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000335693.4_Silent_p.G412G	p.G438G	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN			15	1338	+			412					A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Silent	SNP	ENST00000335693.4	37	c.1314G>A	CCDS55105.1																																																																																				0.572	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1			11	285	0	0	0	0.11911	0	11	285					A	40899976	G	A	40899976	2	1	2	1	0	0	0	0	0	0	0	1	2376	1190	42	2		2	C7orf10	7	40899976	Silent	SNP	G	TCGA-BJ-A0YZ-01A-11D-A10S-08		40899976	118238687	13	81											
HUS1	3364	broad.mit.edu	37	chr7	48016402	48016402	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctttatggggatgtcatgGgtcacaatgcggctactgct	12	9	2	0			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr7:48016402G>T	ENST00000258774.5	-	4	413	c.390C>A	c.(388-390)acC>acA	p.T130T	HUS1_ENST00000432325.1_Silent_p.T109T	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	130					cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|embryo development (GO:0009790)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)|response to UV (GO:0009411)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				GGATGTCATGGGTCACAATGC	0.408								Direct reversal of damage;Other conserved DNA damage response genes																													Ovarian(103;466 1517 21788 34610 43890)	ENST00000258774.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13						c.(388-390)acC>acA	Direct reversal of damage;Other conserved DNA damage response genes	HUS1 checkpoint homolog (S. pombe)							181	167	172					7																	48016402		2203	4300	6503	SO:0001819	synonymous_variant	3364				DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding	g.chr7:48016402G>T	Y16893	CCDS34635.1	7p13-p12	2008-08-08	2001-11-28		ENSG00000136273	ENSG00000136273			5309	protein-coding gene	gene with protein product	"hus1+-like protein"	603760	"HUS1 (S. pombe) checkpoint homolog"			9878245, 9524127	Standard	NM_004507		Approved		uc003tod.2	O60921	OTTHUMG00000155645	ENST00000258774.5:c.390C>A	7.37:g.48016402G>T						HUS1_ENST00000432325.1_Silent_p.T109T	p.T130T	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN			4	413	-		Breast(660;0.00139)	130					B4DFI9	Silent	SNP	ENST00000258774.5	37	c.390C>A	CCDS34635.1																																																																																				0.408	HUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340952.1	NM_004507		7	247	1	0	0.000157383	0.038147	0.000209844	7	247					T	48016402	G	T	48016402	2	4	2	1	0	0	0	0	0	0	0	1	7459	1219	43	4		4	HUS1	7	48016402	Silent	SNP	G	TCGA-BJ-A0YZ-01A-11D-A10S-08	7116426	48016402	111122261	14	82											
CNGB3	54714	broad.mit.edu	37	chr8	87683262	87683262	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgacgcattcttttcaccaGgttgtgtagctgggcatcgg	12	9	2	1			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr8:87683262G>C	ENST00000320005.5	-	4	450	c.403C>G	c.(403-405)Ctg>Gtg	p.L135V		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	135					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CTTTTCACCAGGTTGTGTAGC	0.473																																						ENST00000320005.5																			0				NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						c.(403-405)Ctg>Gtg		cyclic nucleotide gated channel beta 3							243	250	248					8																	87683262		2203	4300	6503	SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87683262G>C	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2153	protein-coding gene	gene with protein product		605080	"achromatopsia (rod monochromacy) 3", "achromatopsia (rod monochromacy) 1"	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.403C>G	8.37:g.87683262G>C	ENSP00000316605:p.Leu135Val						p.L135V	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN			4	450	-			135					C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.403C>G	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.202908	0.58234	.	.	ENSG00000170289	ENST00000320005	T	0.61510	0.1	5.68	0.286	0.15710	.	0.182929	0.35179	N	0.003395	T	0.59155	0.2173	M	0.67397	2.05	0.20489	N	0.999892	D	0.67145	0.996	P	0.56563	0.801	T	0.52442	-0.8575	10	0.62326	D	0.03	.	1.9517	0.03368	0.2006:0.0989:0.4153:0.2851	.	135	Q9NQW8	CNGB3_HUMAN	V	135	ENSP00000316605:L135V	ENSP00000316605:L135V	L	-	1	2	CNGB3	87752378	0.022000	0.18835	0.080000	0.20451	0.980000	0.70556	-0.041000	0.12084	0.001000	0.14605	0.591000	0.81541	CTG		0.473	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		12	499	0	0	0	0.080935	0	12	499					C	87683262	G	C	87683262	3	2	2	1	0	0	0	0	1	0	0	0	3601	991	35	4	2086	4	CNGB3	8	87683262	Missense_Mutation	SNP	G	TCGA-BJ-A0YZ-01A-11D-A10S-08		87683262	58680760	15	83											
FGD3	89846	broad.mit.edu	37	chr9	95797678	95797678	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaactgagtgtgccggaccCtgaggagaggctggactcgg	16	10	0	3			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr9:95797678C>T	ENST00000375482.3	+	18	2481	c.1985C>T	c.(1984-1986)cCt>cTt	p.P662L	FGD3_ENST00000416701.2_Missense_Mutation_p.P661L|FGD3_ENST00000538555.1_Missense_Mutation_p.P265L|FGD3_ENST00000337352.6_Missense_Mutation_p.P662L	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	662	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						GTGCCGGACCCTGAGGAGAGG	0.672																																						ENST00000375482.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(1984-1986)cCt>cTt		FYVE, RhoGEF and PH domain containing 3							27	35	33					9																	95797678		2135	4242	6377	SO:0001583	missense	89846				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr9:95797678C>T	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16027	protein-coding gene	gene with protein product			"FGD1 family, member 3"			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.1985C>T	9.37:g.95797678C>T	ENSP00000364631:p.Pro662Leu					FGD3_ENST00000337352.6_Missense_Mutation_p.P662L|FGD3_ENST00000416701.2_Missense_Mutation_p.P661L|FGD3_ENST00000538555.1_Missense_Mutation_p.P265L	p.P662L	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN			18	2481	+			662			PH 2.		F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Missense_Mutation	SNP	ENST00000375482.3	37	c.1985C>T	CCDS43849.1	.	.	.	.	.	.	.	.	.	.	c	10.54	1.379758	0.24944	.	.	ENSG00000127084	ENST00000375482;ENST00000416701;ENST00000337352;ENST00000538555	T;T;T;T	0.73152	-0.66;-0.66;-0.66;-0.72	4.51	2.42	0.29668	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.37623	N	0.002002	T	0.73009	0.3532	M	0.70275	2.135	0.09310	N	0.999999	D;B	0.53745	0.962;0.053	P;B	0.54965	0.765;0.046	T	0.61232	-0.7104	10	0.27785	T	0.31	.	5.6654	0.17693	0.0:0.6812:0.1932:0.1256	.	661;662	F8W7P2;Q5JSP0	.;FGD3_HUMAN	L	662;661;662;265	ENSP00000364631:P662L;ENSP00000413833:P661L;ENSP00000336914:P662L;ENSP00000442560:P265L	ENSP00000336914:P662L	P	+	2	0	FGD3	94837499	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	0.419000	0.21247	0.464000	0.27142	0.556000	0.70494	CCT		0.672	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	NM_033086		6	13	0	0	0	0.047766	0	6	13					T	95797678	C	T	95797678	3	4	2	1	0	0	0	0	1	0	0	0	5834	681	24	2	2047	2	FGD3	9	95797678	Missense_Mutation	SNP	C	TCGA-BJ-A0YZ-01A-11D-A10S-08		95797678	45415753	16	84											
FRMPD2	143162	broad.mit.edu	37	chr10	49409405	49409405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcttcccagtgacactgCttgtgatggtgaactttttt	9	9	1	3	rs540210045		TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr10:49409405C>T	ENST00000374201.3	-	15	2122	c.1820G>A	c.(1819-1821)aGc>aAc	p.S607N	FRMPD2_ENST00000305531.3_Missense_Mutation_p.S582N|FRMPD2_ENST00000407470.4_Missense_Mutation_p.S575N	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	607	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		AGTGACACTGCTTGTGATGGT	0.453													C|||	1	0.000199681	0	0	5008	,	,		18843	0.001		0	False		,,,				2504	0					ENST00000374201.3																			0				NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66						c.(1819-1821)aGc>aAc		FERM and PDZ domain containing 2							202	166	178					10																	49409405		2203	4300	6503	SO:0001583	missense	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49409405C>T	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"PDZ domain containing 5C"	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.1820G>A	10.37:g.49409405C>T	ENSP00000363317:p.Ser607Asn					FRMPD2_ENST00000305531.3_Missense_Mutation_p.S582N|FRMPD2_ENST00000407470.4_Missense_Mutation_p.S575N	p.S607N	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	15	2122	-			607			FERM.		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	c.1820G>A	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.905214	0.52333	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	D;D;D	0.82081	-1.57;-1.57;-1.57	5.16	5.16	0.70880	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	.	.	.	.	D	0.86928	0.6051	L	0.41236	1.265	0.39178	D	0.96272	D;P;D	0.89917	1.0;0.771;1.0	D;B;D	0.85130	0.997;0.348;0.997	D	0.83824	0.0248	9	0.18710	T	0.47	.	18.0012	0.89198	0.0:1.0:0.0:0.0	.	582;607;575	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	N	607;582;575	ENSP00000363317:S607N;ENSP00000307079:S582N;ENSP00000384339:S575N	ENSP00000307079:S582N	S	-	2	0	FRMPD2	49079411	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.146000	0.64845	2.585000	0.87301	0.655000	0.94253	AGC		0.453	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		52	170	0	0	0	0.139131	0	52	170					T	49409405	C	T	49409405	3	4	2	1	0	0	0	0	1	0	0	0	6058	797	28	2	2169	2	FRMPD2	10	49409405	Missense_Mutation	SNP	C	TCGA-BJ-A0YZ-01A-11D-A10S-08		49409405	86125342	17	85											
C10orf76	79591	broad.mit.edu	37	chr10	103735059	103735059	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactacctggatgcagcgtcTgtaacagggaaagcaaaaaa	10	8	1	0			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr10:103735059T>C	ENST00000370033.4	-	20	1526		c.e20-2			NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76							integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		ATGCAGCGTCTGTAACAGGGA	0.493																																						ENST00000370033.4																			0				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24						c.e20-2		chromosome 10 open reading frame 76							76	78	78					10																	103735059		1915	4121	6036	SO:0001630	splice_region_variant	79591					integral to membrane		g.chr10:103735059T>C	AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.1407-2A>G	10.37:g.103735059T>C								NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)	20	1526	-		Colorectal(252;0.123)						Q2TB87|Q9H8Z9	Splice_Site	SNP	ENST00000370033.4	37		CCDS41563.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.604159	0.87157	.	.	ENSG00000120029	ENST00000370033;ENST00000431271	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1214	0.65189	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	C10orf76	103725049	1.000000	0.71417	0.981000	0.43875	0.972000	0.66771	7.276000	0.78559	1.994000	0.58287	0.402000	0.26972	.		0.493	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	NM_024541	Intron	19	49	0	0	0	0.055883	0	19	49					C	103735059	T	C	103735059	5	2	2	1	0	0	0	0	0	0	1	0	1616	1594	55	3	692	3	C10orf76	10	103735059	Splice_Site	SNP	T	TCGA-BJ-A0YZ-01A-11D-A10S-08	54325654	103735059	31799688	18	86											
PPAPDC1A	196051	broad.mit.edu	37	chr10	122273473	122273473	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atttgtgtggtgaaaattatCcggcgaacagacaagactga	11	6	0	4			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr10:122273473C>T	ENST00000398250.1	+	3	568	c.216C>T	c.(214-216)atC>atT	p.I72I	PPAPDC1A_ENST00000439221.1_Silent_p.I72I|PPAPDC1A_ENST00000541332.1_Silent_p.I72I|PPAPDC1A_ENST00000369073.3_Silent_p.I62I|PPAPDC1A_ENST00000398248.1_Intron	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	72					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phospholipid dephosphorylation (GO:0046839)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		TGAAAATTATCCGGCGAACAG	0.413																																						ENST00000398250.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20						c.(214-216)atC>atT		phosphatidic acid phosphatase type 2 domain containing 1A							188	169	175					10																	122273473		1834	4088	5922	SO:0001819	synonymous_variant	196051				phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity	g.chr10:122273473C>T	AK098668	CCDS41573.1	10q26.13	2008-02-05		2005-07-15	ENSG00000203805	ENSG00000203805			23531	protein-coding gene	gene with protein product			"phosphatidic acid phosphatase type 2 domain containing 1"	PPAPDC1			Standard	XM_005269592		Approved		uc001lev.1	Q5VZY2	OTTHUMG00000019168	ENST00000398250.1:c.216C>T	10.37:g.122273473C>T						PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000541332.1_Silent_p.I72I|PPAPDC1A_ENST00000369073.3_Silent_p.I62I|PPAPDC1A_ENST00000439221.1_Silent_p.I72I	p.I72I	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN		all cancers(201;0.0117)	3	568	+		Lung NSC(174;0.1)|all_lung(145;0.132)	72					A2RU82|Q08EQ2|Q0IIP2|Q495B4|Q5VZY1	Silent	SNP	ENST00000398250.1	37	c.216C>T	CCDS41573.1																																																																																				0.413	PPAPDC1A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_113641		4	184	0	0	0	0.014758	0	4	184					T	122273473	C	T	122273473	2	4	2	1	0	0	0	0	0	0	0	1	12293	845	30	2		2	PPAPDC1A	10	122273473	Silent	SNP	C	TCGA-BJ-A0YZ-01A-11D-A10S-08	18538414	122273473	13261274	19	87											
OR5B2	390190	broad.mit.edu	37	chr11	58190019	58190019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagtgaagtgagaggcaCaggtggacaatgctttttgg	15	6	0	2			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr11:58190019C>T	ENST00000302581.2	-	1	767	c.716G>A	c.(715-717)tGt>tAt	p.C239Y		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTGAGAGGCACAGGTGGACAA	0.438																																						ENST00000302581.2																			0				NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(715-717)tGt>tAt		olfactory receptor, family 5, subfamily B, member 2							123	114	117					11																	58190019		2201	4295	6496	SO:0001583	missense	390190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58190019C>T	AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"GPCR / Class A : Olfactory receptors"	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.716G>A	11.37:g.58190019C>T	ENSP00000303076:p.Cys239Tyr						p.C239Y	NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN			1	767	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	239					B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Missense_Mutation	SNP	ENST00000302581.2	37	c.716G>A	CCDS31550.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858260	0.51376	.	.	ENSG00000172365	ENST00000302581	T	0.00369	7.74	3.73	3.73	0.42828	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38663	U	0.001601	T	0.01940	0.0061	H	0.98295	4.195	0.52099	D	0.999945	D	0.89917	1.0	D	0.75484	0.986	T	0.10428	-1.0630	10	0.87932	D	0	-10.7883	14.5682	0.68194	0.0:1.0:0.0:0.0	.	239	Q96R09	OR5B2_HUMAN	Y	239	ENSP00000303076:C239Y	ENSP00000303076:C239Y	C	-	2	0	OR5B2	57946595	1.000000	0.71417	0.993000	0.49108	0.303000	0.27691	5.754000	0.68743	2.098000	0.63641	0.585000	0.79938	TGT		0.438	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2	NM_001005566		27	57	0	0	0	0.099896	0	27	57					T	58190019	C	T	58190019	3	4	2	1	0	0	0	0	1	0	0	0	11150	478	17	2	217	2	OR5B2	11	58190019	Missense_Mutation	SNP	C	TCGA-BJ-A0YZ-01A-11D-A10S-08		58190019	76816497	20	88											
OR2AT4	341152	broad.mit.edu	37	chr11	74800585	74800585	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacatgggcttgtggaggctGggctctgccaccacggccac	14	13	1	0			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr11:74800585G>T	ENST00000305159.3	-	1	214	c.174C>A	c.(172-174)ccC>ccA	p.P58P		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						TGTGGAGGCTGGGCTCTGCCA	0.502																																						ENST00000305159.3																			0				endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						c.(172-174)ccC>ccA		olfactory receptor, family 2, subfamily AT, member 4							146	124	132					11																	74800585		2200	4293	6493	SO:0001819	synonymous_variant	341152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:74800585G>T	BK004820	CCDS31639.1	11q13.4	2012-08-09			ENSG00000171561	ENSG00000171561		"GPCR / Class A : Olfactory receptors"	19620	protein-coding gene	gene with protein product							Standard	NM_001005285		Approved		uc010rro.2	A6NND4	OTTHUMG00000165370	ENST00000305159.3:c.174C>A	11.37:g.74800585G>T							p.P58P	NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN			1	214	-			58					B9EGZ8	Silent	SNP	ENST00000305159.3	37	c.174C>A	CCDS31639.1																																																																																				0.502	OR2AT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383734.1	NM_001005285		5	87	1	0	2.0095e-06	0.02938	2.72718e-06	5	87					T	74800585	G	T	74800585	2	4	2	1	0	0	0	0	0	0	0	1	10987	1335	47	4		4	OR2AT4	11	74800585	Silent	SNP	G	TCGA-BJ-A0YZ-01A-11D-A10S-08	16610566	74800585	60205931	21	89											
SORL1	6653	broad.mit.edu	37	chr11	121424735	121424735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgagcagttgcctctcaccGggctacgggcagcagtggcc	14	15	1	0			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr11:121424735G>A	ENST00000260197.7	+	17	2485	c.2356G>A	c.(2356-2358)Ggg>Agg	p.G786R		NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	786					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GCCTCTCACCGGGCTACGGGC	0.562																																						ENST00000260197.7																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(2356-2358)Ggg>Agg		sortilin-related receptor, L(DLR class) A repeats containing							152	143	146					11																	121424735		2203	4299	6502	SO:0001583	missense	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121424735G>A	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.2356G>A	11.37:g.121424735G>A	ENSP00000260197:p.Gly786Arg						p.G786R	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	17	2485	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	786					B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.2356G>A	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165764	0.78339	.	.	ENSG00000137642	ENST00000260197	D	0.92149	-2.98	4.96	4.96	0.65561	Six-bladed beta-propeller, TolB-like (1);	0.282723	0.38381	N	0.001711	D	0.95478	0.8531	M	0.90145	3.09	0.80722	D	1	D	0.65815	0.995	P	0.51895	0.683	D	0.96353	0.9260	10	0.72032	D	0.01	.	18.396	0.90499	0.0:0.0:1.0:0.0	.	786	Q92673	SORL_HUMAN	R	786	ENSP00000260197:G786R	ENSP00000260197:G786R	G	+	1	0	SORL1	120929945	1.000000	0.71417	0.559000	0.28332	0.375000	0.29983	9.299000	0.96137	2.564000	0.86499	0.561000	0.74099	GGG		0.562	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		4	234	0	0	0	0.014758	0	4	234					A	121424735	G	A	121424735	3	1	2	1	0	0	0	0	1	0	0	0	14934	1116	39	1	2422	1	SORL1	11	121424735	Missense_Mutation	SNP	G	TCGA-BJ-A0YZ-01A-11D-A10S-08	46624150	121424735	13581781	22	90											
THYN1	29087	broad.mit.edu	37	chr11	134122752	134122752	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acctgaaccagaagtcccagCcagcctcttccggggtctcg	10	16	2	2			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr11:134122752C>G	ENST00000341541.3	-	1	486	c.25G>C	c.(25-27)Gct>Cct	p.A9P	THYN1_ENST00000352327.5_Missense_Mutation_p.A9P|THYN1_ENST00000392594.3_Missense_Mutation_p.A9P|ACAD8_ENST00000374752.4_5'Flank|THYN1_ENST00000525677.1_5'UTR|THYN1_ENST00000392595.2_Missense_Mutation_p.A9P|ACAD8_ENST00000281182.4_5'Flank|ACAD8_ENST00000537423.1_5'Flank|ACAD8_ENST00000543332.1_5'Flank	NM_014174.2	NP_054893.1	Q9P016	THYN1_HUMAN	thymocyte nuclear protein 1	9						nucleus (GO:0005634)				endometrium(2)|kidney(1)|lung(3)|pancreas(1)	7	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-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;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)		GAAGTCCCAGCCAGCCTCTTC	0.512																																						ENST00000341541.3																			0				endometrium(2)|kidney(1)|lung(3)|pancreas(1)	7						c.(25-27)Gct>Cct		thymocyte nuclear protein 1							65	68	67					11																	134122752		2201	4297	6498	SO:0001583	missense	29087					nucleus		g.chr11:134122752C>G	BC006978	CCDS8496.1, CCDS8497.1	11q25	2006-02-09			ENSG00000151500	ENSG00000151500			29560	protein-coding gene	gene with protein product		613739				14601557, 12384300	Standard	NM_014174		Approved	THY28	uc001qhg.3	Q9P016	OTTHUMG00000167176	ENST00000341541.3:c.25G>C	11.37:g.134122752C>G	ENSP00000341657:p.Ala9Pro					THYN1_ENST00000525677.1_5'UTR|THYN1_ENST00000352327.5_Missense_Mutation_p.A9P|THYN1_ENST00000392594.3_Missense_Mutation_p.A9P|THYN1_ENST00000392595.2_Missense_Mutation_p.A9P	p.A9P	NM_014174.2	NP_054893.1	Q9P016	THYN1_HUMAN		Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)	1	486	-	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-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)	9					Q567Q2|Q9H3L4|Q9HC20	Missense_Mutation	SNP	ENST00000341541.3	37	c.25G>C	CCDS8496.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.791521	0.31685	.	.	ENSG00000151500	ENST00000392595;ENST00000341541;ENST00000392594;ENST00000352327;ENST00000534274	.	.	.	4.87	-4.11	0.03928	.	1.452300	0.04306	N	0.348115	T	0.15652	0.0377	N	0.12182	0.205	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.10200	-1.0640	9	0.23891	T	0.37	-27.3705	0.2404	0.00191	0.2522:0.2481:0.2477:0.2519	.	9;9;9	E9PPQ6;Q9P016-2;Q9P016	.;.;THYN1_HUMAN	P	9	.	ENSP00000341657:A9P	A	-	1	0	THYN1	133627962	0.000000	0.05858	0.001000	0.08648	0.671000	0.39405	-1.152000	0.03172	-0.572000	0.06006	-0.152000	0.13540	GCT		0.512	THYN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393599.1	NM_014174		3	148	0	0	0	0.115264	0	3	148					G	134122752	C	G	134122752	3	3	2	1	0	0	0	0	1	0	0	0	15883	739	26	4	680	4	THYN1	11	134122752	Missense_Mutation	SNP	C	TCGA-BJ-A0YZ-01A-11D-A10S-08	12698017	134122752	883764	23	91											
A2ML1	144568	broad.mit.edu	37	chr12	9013729	9013729	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtcttcatcttcactttttAggacccaatggtgagtcagg	9	9	5	1			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr12:9013729A>G	ENST00000299698.7	+	28	3519		c.e28-1		A2ML1_ENST00000539547.1_Splice_Site	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TTCACTTTTTAGGACCCAATG	0.433																																						ENST00000299698.7																			0				NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						c.e28-1		alpha-2-macroglobulin-like 1							116	118	117					12																	9013729		1941	4139	6080	SO:0001630	splice_region_variant	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9013729A>G	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"C3 and PZP-like, alpha-2-macroglobulin domain containing 9"	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.3340-1A>G	12.37:g.9013729A>G						A2ML1_ENST00000539547.1_Splice_Site		NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN			28	3519	+									Splice_Site	SNP	ENST00000299698.7	37		CCDS8596.2	.	.	.	.	.	.	.	.	.	.	A	14.64	2.595175	0.46318	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	.	.	.	3.45	2.28	0.28536	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.43	0.38604	0.8204:0.1796:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	A2ML1	8904996	1.000000	0.71417	0.677000	0.29947	0.819000	0.46315	7.399000	0.79935	0.680000	0.31366	0.460000	0.39030	.		0.433	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670	Intron	3	193	0	0	0	0.009096	0	3	193					G	9013729	A	G	9013729	5	3	2	1	0	0	0	0	0	0	1	0	5	434	15	3	3448	3	A2ML1	12	9013729	Splice_Site	SNP	A	TCGA-BJ-A0YZ-01A-11D-A10S-08		9013729	124838166	24	92											
CCDC38	120935	broad.mit.edu	37	chr12	96310945	96310945	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcggagcaggacctggcccaAacttttcaaatgacctacca	8	13	1	1			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr12:96310945A>C	ENST00000344280.3	-	4	823	c.266T>G	c.(265-267)tTt>tGt	p.F89C	CCDC38_ENST00000549752.1_5'Flank	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	89										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACCTGGCCCAAACTTTTCAAA	0.373																																						ENST00000344280.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(265-267)tTt>tGt		coiled-coil domain containing 38							87	84	85					12																	96310945		2203	4300	6503	SO:0001583	missense	120935							g.chr12:96310945A>C	AK097408	CCDS9056.1	12q23.1	2005-11-02				ENSG00000165972			26843	protein-coding gene	gene with protein product							Standard	NM_182496		Approved	FLJ40089	uc001tek.2	Q502W7	OTTHUMG00000170352	ENST00000344280.3:c.266T>G	12.37:g.96310945A>C	ENSP00000345470:p.Phe89Cys						p.F89C	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN			4	823	-			89					Q8N835	Missense_Mutation	SNP	ENST00000344280.3	37	c.266T>G	CCDS9056.1	.	.	.	.	.	.	.	.	.	.	A	13.55	2.270605	0.40194	.	.	ENSG00000165972	ENST00000344280;ENST00000546947	T	0.32988	1.43	5.54	1.79	0.24919	.	0.840158	0.10504	N	0.666927	T	0.22820	0.0551	L	0.27053	0.805	0.09310	N	1	D	0.59357	0.985	P	0.46796	0.527	T	0.09840	-1.0656	10	0.38643	T	0.18	0.0074	4.3683	0.11235	0.6132:0.0:0.0824:0.3045	.	89	Q502W7	CCD38_HUMAN	C	89;49	ENSP00000345470:F89C	ENSP00000345470:F89C	F	-	2	0	CCDC38	94835076	0.005000	0.15991	0.001000	0.08648	0.001000	0.01503	1.153000	0.31676	0.141000	0.18875	-0.344000	0.07964	TTT		0.373	CCDC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408634.1	NM_182496		6	94	0	0	0	0.02938	0	6	94					C	96310945	A	C	96310945	3	2	2	1	0	0	0	0	1	0	0	0	2810	14	1	5	1477	5	CCDC38	12	96310945	Missense_Mutation	SNP	A	TCGA-BJ-A0YZ-01A-11D-A10S-08	87297216	96310945	37540950	25	93											
RBM19	9904	broad.mit.edu	37	chr12	114377796	114377796	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagatgcctgaaggccttgCgggcctccaggggctccagg	15	14	0	2	rs201979395		TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr12:114377796C>T	ENST00000545145.2	-	15	1985	c.1907G>A	c.(1906-1908)cGc>cAc	p.R636H	RBM19_ENST00000261741.5_Missense_Mutation_p.R636H|RBM19_ENST00000392561.3_Missense_Mutation_p.R636H|RP11-780K2.1_ENST00000550206.1_RNA	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	636	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GAAGGCCTTGCGGGCCTCCAG	0.622																																						ENST00000545145.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55						c.(1906-1908)cGc>cAc		RNA binding motif protein 19		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	47	53	51		1907,1907,1907	2.4	1.0	12		51	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	RBM19	NM_001146698.1,NM_001146699.1,NM_016196.3	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	636/961,636/961,636/961	114377796	1,13005	2203	4300	6503	SO:0001583	missense	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114377796C>T	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"RNA binding motif (RRM) containing"	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1907G>A	12.37:g.114377796C>T	ENSP00000442053:p.Arg636His					RBM19_ENST00000392561.3_Missense_Mutation_p.R636H|RBM19_ENST00000261741.5_Missense_Mutation_p.R636H	p.R636H	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN			15	1985	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		636			RRM 4.		A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	c.1907G>A	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745338	0.69418	0.0	1.16E-4	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.09073	3.02;3.02;3.02	4.3	2.42	0.29668	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.185022	0.44483	N	0.000448	T	0.19805	0.0476	M	0.65320	2	0.39781	D	0.972299	D	0.71674	0.998	D	0.68353	0.957	T	0.01146	-1.1437	10	0.87932	D	0	-11.8564	6.7325	0.23390	0.0:0.5626:0.0:0.4373	.	636	Q9Y4C8	RBM19_HUMAN	H	636	ENSP00000442053:R636H;ENSP00000376344:R636H;ENSP00000261741:R636H	ENSP00000261741:R636H	R	-	2	0	RBM19	112862179	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.445000	0.66594	0.820000	0.34516	0.561000	0.74099	CGC		0.622	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		5	154	0	0	0	0.014758	0	5	154					T	114377796	C	T	114377796	3	4	2	1	0	0	0	0	1	0	0	0	13121	768	27	1	1015	1	RBM19	12	114377796	Missense_Mutation	SNP	C	TCGA-BJ-A0YZ-01A-11D-A10S-08	18066851	114377796	19474099	26	94											
TEP1	7011	broad.mit.edu	37	chr14	20869182	20869182	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgacgctttgttcccccgtaGgctcagctcccgctcccagg	10	18	1	0			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr14:20869182G>T	ENST00000262715.5	-	9	1550	c.1510C>A	c.(1510-1512)Cta>Ata	p.L504I	TEP1_ENST00000556935.1_Missense_Mutation_p.L396I	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	504	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)		TTCCCCCGTAGGCTCAGCTCC	0.547																																						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.(1510-1512)Cta>Ata		telomerase-associated protein 1							142	117	125					14																	20869182		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.chr14:20869182G>T		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.1510C>A	14.37:g.20869182G>T	ENSP00000262715:p.Leu504Ile					TEP1_ENST00000556935.1_Missense_Mutation_p.L396I	p.L504I	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)	9	1550	-	all_cancers(95;0.00123)	all_lung(585;0.235)	504			TROVE.		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.1510C>A	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425462	0.62733	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.14893	2.47;2.47	5.71	1.56	0.23342	TROVE (2);	0.270585	0.30658	N	0.009141	T	0.30947	0.0781	M	0.73962	2.25	0.43430	D	0.995591	P;D	0.57571	0.879;0.98	P;P	0.59703	0.662;0.862	T	0.01786	-1.1274	10	0.56958	D	0.05	-6.154	6.0473	0.19768	0.3145:0.1397:0.5458:0.0	.	396;504	G3V5X7;Q99973	.;TEP1_HUMAN	I	504;504;396	ENSP00000262715:L504I;ENSP00000452574:L396I	ENSP00000262715:L504I	L	-	1	2	TEP1	19939022	0.886000	0.30341	0.245000	0.24217	0.681000	0.39784	1.160000	0.31761	-0.003000	0.14444	0.555000	0.69702	CTA		0.547	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		51	107	1	0	2.82306e-37	0.139131	4.04817e-37	51	107					T	20869182	G	T	20869182	3	4	2	1	0	0	0	0	1	0	0	0	15756	991	35	4	6561	4	TEP1	14	20869182	Missense_Mutation	SNP	G	TCGA-BJ-A0YZ-01A-11D-A10S-08		20869182	86480358	27	95											
INO80	54617	broad.mit.edu	37	chr15	41364115	41364115	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcaatttgccattaaaaaTtgtgggctgtggaatatcct	8	6	1	0			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr15:41364115T>C	ENST00000361937.3	-	12	1961	c.1537A>G	c.(1537-1539)Att>Gtt	p.I513V	INO80_ENST00000401393.3_Missense_Mutation_p.I513V			Q9ULG1	INO80_HUMAN	INO80 complex subunit	513	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CCATTAAAAATTGTGGGCTGT	0.448																																						ENST00000361937.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1537-1539)Att>Gtt		INO80 complex subunit							101	107	105					15																	41364115		2203	4300	6503	SO:0001583	missense	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41364115T>C	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"INO80 complex subunits"	26956	protein-coding gene	gene with protein product	"INO80 complex subunit A"	610169	"INO80 complex homolog 1 (S. cerevisiae)", "INO80 homolog (S. cerevisiae)"	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.1537A>G	15.37:g.41364115T>C	ENSP00000355205:p.Ile513Val					INO80_ENST00000401393.3_Missense_Mutation_p.I513V	p.I513V			Q9ULG1	INO80_HUMAN			12	1961	-			513			Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.		A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	c.1537A>G	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	T	18.58	3.653972	0.67472	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.93247	-3.19;-3.19	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.90841	0.7123	M	0.61703	1.905	0.54753	D	0.999987	P	0.41947	0.766	B	0.34346	0.18	D	0.92032	0.5634	10	0.72032	D	0.01	.	14.8253	0.70107	0.0:0.0:0.0:1.0	.	513	Q9ULG1	INO80_HUMAN	V	513	ENSP00000355205:I513V;ENSP00000384686:I513V	ENSP00000355205:I513V	I	-	1	0	INO80	39151407	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.111000	0.50360	2.096000	0.63516	0.529000	0.55759	ATT		0.448	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		3	218	0	0	0	0.115264	0	3	218					C	41364115	T	C	41364115	3	2	2	1	0	0	0	0	1	0	0	0	7746	1493	52	3	3233	3	INO80	15	41364115	Missense_Mutation	SNP	T	TCGA-BJ-A0YZ-01A-11D-A10S-08		41364115	61167277	28	96											
AXIN1	8312	broad.mit.edu	37	chr16	364573	364573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgagggacagggtgtctGcatcgctggacaggctctgc	16	11	2	1			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr16:364573G>A	ENST00000262320.3	-	3	1360	c.989C>T	c.(988-990)gCa>gTa	p.A330V	AXIN1_ENST00000481769.1_5'UTR|AXIN1_ENST00000354866.3_Missense_Mutation_p.A330V	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	330	Interaction with TP53. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CAGGGTGTCTGCATCGCTGGA	0.627																																						ENST00000262320.3																			0				biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221						c.(988-990)gCa>gTa		axin 1							82	60	68					16																	364573		2203	4300	6503	SO:0001583	missense	8312				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr16:364573G>A	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	903	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 49"	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.989C>T	16.37:g.364573G>A	ENSP00000262320:p.Ala330Val					AXIN1_ENST00000354866.3_Missense_Mutation_p.A330V|AXIN1_ENST00000481769.1_5'UTR	p.A330V	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN			3	1360	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	330			Interaction with TP53 (By similarity).		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation	SNP	ENST00000262320.3	37	c.989C>T	CCDS10405.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944483	0.73672	.	.	ENSG00000103126	ENST00000262320;ENST00000354866	D;D	0.82619	-1.63;-1.63	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.91556	0.7333	M	0.81497	2.545	0.80722	D	1	D;P	0.89917	1.0;0.927	D;P	0.85130	0.997;0.653	D	0.91528	0.5240	10	0.48119	T	0.1	4.4309	18.8372	0.92167	0.0:0.0:1.0:0.0	.	330;330	O15169-2;O15169	.;AXIN1_HUMAN	V	330	ENSP00000262320:A330V;ENSP00000346935:A330V	ENSP00000262320:A330V	A	-	2	0	AXIN1	304574	1.000000	0.71417	0.900000	0.35374	0.898000	0.52572	9.647000	0.98478	2.449000	0.82847	0.436000	0.28706	GCA		0.627	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			14	56	0	0	0	0.132662	0	14	56					A	364573	G	A	364573	3	1	2	1	0	0	0	0	1	0	0	0	1236	1319	46	2	1635	2	AXIN1	16	364573	Missense_Mutation	SNP	G	TCGA-BJ-A0YZ-01A-11D-A10S-08		364573	89990180	29	97											
CDH8	1006	broad.mit.edu	37	chr16	61687826	61687826	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggtttaatatccttacgggGtaaaaatccattaattccat	6	7	0	0			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr16:61687826G>C	ENST00000577390.1	-	12	3040	c.2086C>G	c.(2086-2088)Ccc>Gcc	p.P696A	CDH8_ENST00000577730.1_Missense_Mutation_p.P696A|CDH8_ENST00000299345.6_Missense_Mutation_p.P696A	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	696					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)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCCTTACGGGGTAAAAATCCA	0.408																																						ENST00000577390.1																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(2086-2088)Ccc>Gcc		cadherin 8, type 2							106	104	105					16																	61687826		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61687826G>C	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.2086C>G	16.37:g.61687826G>C	ENSP00000462701:p.Pro696Ala					CDH8_ENST00000577730.1_Missense_Mutation_p.P696A|CDH8_ENST00000299345.6_Missense_Mutation_p.P696A	p.P696A	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	12	3040	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	696					B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.2086C>G	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	G	7.723	0.697656	0.15106	.	.	ENSG00000150394	ENST00000299345	T	0.75704	-0.96	5.7	5.7	0.88788	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	T	0.73853	0.3640	L	0.53249	1.67	0.80722	D	1	B	0.23249	0.082	B	0.33568	0.166	T	0.67313	-0.5702	10	0.16420	T	0.52	.	18.8311	0.92139	0.0:0.0:1.0:0.0	.	696	P55286	CADH8_HUMAN	A	696	ENSP00000299345:P696A	ENSP00000299345:P696A	P	-	1	0	CDH8	60245327	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.587000	0.82613	2.679000	0.91253	0.655000	0.94253	CCC		0.408	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		39	188	0	0	0	0.080422	0	39	188					C	61687826	G	C	61687826	3	2	2	1	0	0	0	0	1	0	0	0	3116	1261	44	4	317	4	CDH8	16	61687826	Missense_Mutation	SNP	G	TCGA-BJ-A0YZ-01A-11D-A10S-08	61323253	61687826	28666927	30	98											
C18orf62	284274	broad.mit.edu	37	chr18	73130763	73130763	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgaaatatgctgttggcccTtttccagtcttcagaaaccc	7	12	2	1			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr18:73130763T>C	ENST00000579022.1	-	2	377	c.238A>G	c.(238-240)Agg>Ggg	p.R80G	RP11-321M21.3_ENST00000579386.1_Intron|SMIM21_ENST00000382638.3_Intron|RP11-321M21.3_ENST00000578340.1_Intron|SMIM21_ENST00000584508.1_Missense_Mutation_p.R80G	NM_001037331.2	NP_001032408.1	Q3B7S5	SMI21_HUMAN	small integral membrane protein 21	80						integral component of membrane (GO:0016021)		p.R80G(1)									ctgttggcccttttccagtct	0.368																																						ENST00000584508.1																			1	Substitution - Missense(1)	p.R80G(1)	lung(1)								c.(238-240)Agg>Ggg		small integral membrane protein 21							136	131	133					18																	73130763		2203	4300	6503	SO:0001583	missense	284274							g.chr18:73130763T>C		CCDS32845.1	18q23	2013-03-11	2013-03-11	2013-03-11	ENSG00000206026	ENSG00000206026			27598	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 62"	C18orf62			Standard	NM_001037331		Approved		uc002lma.1	Q3B7S5	OTTHUMG00000179126	ENST00000579022.1:c.238A>G	18.37:g.73130763T>C	ENSP00000462106:p.Arg80Gly					RP11-321M21.3_ENST00000578340.1_Intron|RP11-321M21.3_ENST00000579386.1_Intron|SMIM21_ENST00000579022.1_Missense_Mutation_p.R80G|SMIM21_ENST00000382638.3_Intron	p.R80G							2	356	-									Missense_Mutation	SNP	ENST00000579022.1	37	c.238A>G	CCDS32845.1	.	.	.	.	.	.	.	.	.	.	T	4.260	0.047263	0.08243	.	.	ENSG00000206026	ENST00000382638	.	.	.	2.47	-1.31	0.09230	.	.	.	.	.	T	0.16938	0.0407	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.25710	-1.0124	8	0.87932	D	0	.	5.9114	0.19031	0.0:0.5421:0.0:0.4579	.	80	Q3B7S5	CR062_HUMAN	G	80	.	ENSP00000372083:R80G	R	-	1	2	C18orf62	71259751	0.002000	0.14202	0.000000	0.03702	0.004000	0.04260	0.070000	0.14573	0.345000	0.23873	0.477000	0.44152	AGG		0.368	SMIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444917.1	NM_001037331		3	199	0	0	0	0.009096	0	3	199					C	73130763	T	C	73130763	3	2	2	1	0	0	0	0	1	0	0	0	1906	1608	56	3	75	3	C18orf62	18	73130763	Missense_Mutation	SNP	T	TCGA-BJ-A0YZ-01A-11D-A10S-08		73130763	4946485	31	99											
MUC16	94025	broad.mit.edu	37	chr19	9064376	9064376	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcacggcaggtaaagacagCggggaggatggagggctggt	20	6	1	1	rs150330701	byFrequency	TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr19:9064376C>T	ENST00000397910.4	-	3	23273	c.23070G>A	c.(23068-23070)ccG>ccA	p.P7690P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7692	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTAAAGACAGCGGGGAGGATG	0.562													N|||	11	0.00219649	0.0076	0.0014	5008	,	,		17804	0		0	False		,,,				2504	0					ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(23068-23070)ccG>ccA		mucin 16, cell surface associated		C		16,4030		0,16,2007	79	89	86		23070	-4.4	0.0	19	dbSNP_134	86	0,8342		0,0,4171	no	coding-synonymous	MUC16	NM_024690.2		0,16,6178	TT,TC,CC		0.0,0.3955,0.1292		7690/14508	9064376	16,12372	2023	4171	6194	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9064376C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.23070G>A	19.37:g.9064376C>T							p.P7690P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	23273	-			7692			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.23070G>A	CCDS54212.1																																																																																				0.562	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		7	55	0	0	0	0.047766	0	7	55					T	9064376	C	T	9064376	2	4	2	1	0	0	0	0	0	0	0	1	9973	755	27	1		1	MUC16	19	9064376	Silent	SNP	C	TCGA-BJ-A0YZ-01A-11D-A10S-08		9064376	50064607	32	100											
LIPE	3991	broad.mit.edu	37	chr19	42912459	42912459	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggtctgcaggaatggccGgatggcaggcgtgaactgtg	18	7	1	1			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr19:42912459G>A	ENST00000244289.4	-	3	1711	c.1435C>T	c.(1435-1437)Cgg>Tgg	p.R479W	LIPE-AS1_ENST00000597203.1_RNA|LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000593491.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	479					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)	p.R479W(1)		breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				AGGAATGGCCGGATGGCAGGC	0.627																																						ENST00000244289.4																			1	Substitution - Missense(1)	p.R479W(1)	large_intestine(1)	breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(1435-1437)Cgg>Tgg		lipase, hormone-sensitive							146	134	138					19																	42912459		2203	4300	6503	SO:0001583	missense	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42912459G>A	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.1435C>T	19.37:g.42912459G>A	ENSP00000244289:p.Arg479Trp					LIPE-AS1_ENST00000593491.2_RNA|LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA	p.R479W	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN			3	1711	-		Prostate(69;0.00682)	479					Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	c.1435C>T	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.263241	0.59431	.	.	ENSG00000079435	ENST00000244289	T	0.38722	1.12	4.32	2.02	0.26589	Hormone-sensitive lipase, N-terminal (1);	0.087086	0.42821	D	0.000649	T	0.63117	0.2484	M	0.80847	2.515	0.53688	D	0.999973	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	T	0.65191	-0.6228	10	0.66056	D	0.02	-18.1983	11.7483	0.51832	0.0:0.0:0.6491:0.3509	.	479;479	A8K8W7;Q05469	.;LIPS_HUMAN	W	479	ENSP00000244289:R479W	ENSP00000244289:R479W	R	-	1	2	LIPE	47604299	1.000000	0.71417	1.000000	0.80357	0.537000	0.34900	4.122000	0.57910	0.307000	0.22880	0.561000	0.74099	CGG		0.627	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		4	224	0	0	0	0.009096	0	4	224					A	42912459	G	A	42912459	3	1	2	1	0	0	0	0	1	0	0	0	8821	1115	39	1	1827	1	LIPE	19	42912459	Missense_Mutation	SNP	G	TCGA-BJ-A0YZ-01A-11D-A10S-08	33848083	42912459	16216524	33	101											
VN1R1	57191	broad.mit.edu	37	chr19	57967438	57967438	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tggaatccattgagaaggcaGatggtgctgagggaaactct	14	6	1	3			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr19:57967438G>C	ENST00000321039.3	-	1	416	c.417C>G	c.(415-417)atC>atG	p.I139M	AC004076.9_ENST00000415705.3_Intron|AC004076.9_ENST00000596831.1_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	139			I -> T (in allele VN1R1*2). {ECO:0000269|PubMed:12826614}.		response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		TGAGAAGGCAGATGGTGCTGA	0.428																																						ENST00000321039.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19						c.(415-417)atC>atG		vomeronasal 1 receptor 1							99	91	94					19																	57967438		2203	4300	6503	SO:0001583	missense	57191				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:57967438G>C	AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	13548	protein-coding gene	gene with protein product		605234	"vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.417C>G	19.37:g.57967438G>C	ENSP00000322339:p.Ile139Met					AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron	p.I139M	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)	1	416	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)	139		I -> T (in allele VN1R1*2).			B3KSV5|Q7Z5H8|Q7Z5H9	Missense_Mutation	SNP	ENST00000321039.3	37	c.417C>G	CCDS12951.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.485130	0.44147	.	.	ENSG00000178201	ENST00000321039	T	0.38401	1.14	4.18	2.03	0.26663	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.36524	0.0970	L	0.42245	1.32	0.21290	N	0.999732	P	0.39326	0.668	P	0.45639	0.488	T	0.23404	-1.0189	9	0.87932	D	0	.	8.2359	0.31625	0.1982:0.0:0.8018:0.0	.	139	Q9GZP7	VN1R1_HUMAN	M	139	ENSP00000322339:I139M	ENSP00000322339:I139M	I	-	3	3	VN1R1	62659250	0.996000	0.38824	0.029000	0.17559	0.009000	0.06853	2.720000	0.47252	0.545000	0.28902	0.638000	0.83543	ATC		0.428	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466464.1	NM_020633		24	131	0	0	0	0.076483	0	24	131					C	57967438	G	C	57967438	3	2	2	1	0	0	0	0	1	0	0	0	17175	932	33	4	648	4	VN1R1	19	57967438	Missense_Mutation	SNP	G	TCGA-BJ-A0YZ-01A-11D-A10S-08	15054979	57967438	1161545	34	102			1	2		3	3	275	G		5.934742e-08
VN1R1	57191	broad.mit.edu	37	chr19	57967675	57967675	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggagaaaggaatttcccagGatcccaactccagtctgaat	9	10	1	2			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr19:57967675G>A	ENST00000321039.3	-	1	179	c.180C>T	c.(178-180)atC>atT	p.I60I	AC004076.9_ENST00000415705.3_Intron|AC004076.9_ENST00000596831.1_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	60					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		AATTTCCCAGGATCCCAACTC	0.413																																						ENST00000321039.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19						c.(178-180)atC>atT		vomeronasal 1 receptor 1							51	52	52					19																	57967675		2203	4300	6503	SO:0001819	synonymous_variant	57191				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:57967675G>A	AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	13548	protein-coding gene	gene with protein product		605234	"vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.180C>T	19.37:g.57967675G>A						AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron	p.I60I	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)	1	179	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)	60					B3KSV5|Q7Z5H8|Q7Z5H9	Silent	SNP	ENST00000321039.3	37	c.180C>T	CCDS12951.1																																																																																				0.413	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466464.1	NM_020633		14	88	0	0	0	0.11911	0	14	88					A	57967675	G	A	57967675	2	1	2	1	0	0	0	0	0	0	0	1	17175	1164	41	2		2	VN1R1	19	57967675	Silent	SNP	G	TCGA-BJ-A0YZ-01A-11D-A10S-08	237	57967675	1161308	35	103			1	2		3	3	275	G		5.934742e-08
VN1R1	57191	broad.mit.edu	37	chr19	57967712	57967712	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaatgaggaagctaatccctGattttacttttccaaaagcc	7	9	0	2			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr19:57967712G>A	ENST00000321039.3	-	1	142	c.143C>T	c.(142-144)tCa>tTa	p.S48L	AC004076.9_ENST00000415705.3_Intron|AC004076.9_ENST00000596831.1_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	48					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		GCTAATCCCTGATTTTACTTT	0.358																																						ENST00000321039.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19						c.(142-144)tCa>tTa		vomeronasal 1 receptor 1							55	56	56					19																	57967712		2203	4300	6503	SO:0001583	missense	57191				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:57967712G>A	AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	13548	protein-coding gene	gene with protein product		605234	"vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.143C>T	19.37:g.57967712G>A	ENSP00000322339:p.Ser48Leu					AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron	p.S48L	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)	1	142	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)	48					B3KSV5|Q7Z5H8|Q7Z5H9	Missense_Mutation	SNP	ENST00000321039.3	37	c.143C>T	CCDS12951.1	.	.	.	.	.	.	.	.	.	.	G	3.279	-0.147503	0.06627	.	.	ENSG00000178201	ENST00000321039	T	0.28069	1.63	4.18	-0.788	0.10939	.	.	.	.	.	T	0.07413	0.0187	N	0.00637	-1.305	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28681	-1.0036	9	0.30078	T	0.28	.	2.1666	0.03839	0.4412:0.3232:0.0929:0.1426	.	48	Q9GZP7	VN1R1_HUMAN	L	48	ENSP00000322339:S48L	ENSP00000322339:S48L	S	-	2	0	VN1R1	62659524	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.057000	0.11768	-0.324000	0.08589	-1.353000	0.01230	TCA		0.358	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466464.1	NM_020633		17	91	0	0	0	0.146539	0	17	91					A	57967712	G	A	57967712	3	1	2	1	0	0	0	0	1	0	0	0	17175	1294	45	2	922	2	VN1R1	19	57967712	Missense_Mutation	SNP	G	TCGA-BJ-A0YZ-01A-11D-A10S-08	37	57967712	1161271	36	104			1	2		3	3	275	G		5.934742e-08
UMODL1	89766	broad.mit.edu	37	chr21	43547305	43547305	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggagtgctgggcaaccccGtctagcaacgcccgggaccc	13	16	1	0			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr21:43547305G>A	ENST00000408910.2	+	19	3483	c.3483G>A	c.(3481-3483)ccG>ccA	p.P1161P	UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400427.1_Silent_p.P1217P|UMODL1_ENST00000400424.2_Silent_p.P1089P|UMODL1_ENST00000408989.2_Silent_p.P1289P	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1161	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GGGCAACCCCGTCTAGCAACG	0.562																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000400427.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(3649-3651)ccG>ccA		uromodulin-like 1							65	67	66					21																	43547305		1963	4145	6108	SO:0001819	synonymous_variant	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43547305G>A		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.3483G>A	21.37:g.43547305G>A						UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400424.1_Silent_p.P1089P|UMODL1_ENST00000408989.2_Silent_p.P1289P|UMODL1_ENST00000408910.2_Silent_p.P1161P	p.P1217P	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN			18	4047	+			1161			ZP.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Silent	SNP	ENST00000408910.2	37	c.3651G>A	CCDS42936.1																																																																																				0.562	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			5	126	0	0	0	0.014758	0	5	126					A	43547305	G	A	43547305	2	1	2	1	0	0	0	0	0	0	0	1	16977	1132	40	1		1	UMODL1	21	43547305	Silent	SNP	G	TCGA-BJ-A0YZ-01A-11D-A10S-08		43547305	4582590	37	105											
ZC3H12B	340554	broad.mit.edu	37	chrX	64719805	64719805	+	Frame_Shift_Del	DEL	C	C	-													ttaggacgccacggcccaagCcttgaaaatttcttaagaaa							TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chrX:64719805delC	ENST00000338957.4	+	4	1093	c.1026delC	c.(1024-1026)agcfs	p.S342fs	ZC3H12B_ENST00000423889.3_Frame_Shift_Del_p.S331fs	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	342							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACGGCCCAAGCCTTGAAAATT	0.443																																						ENST00000338957.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1024-1026)agfs		zinc finger CCCH-type containing 12B							181	169	173					X																	64719805		1930	4131	6061	SO:0001589	frameshift_variant	340554						endonuclease activity|nucleic acid binding|zinc ion binding	g.chrX:64719805delC	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"Zinc fingers, CCCH-type domain containing"	17407	protein-coding gene	gene with protein product	"MCP induced protein 2"	300889	"chromosome X open reading frame 32"	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.1026delC	X.37:g.64719805delC	ENSP00000340839:p.Ser342fs					ZC3H12B_ENST00000423889.3_Frame_Shift_Del_p.S331fs	p.S342fs	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN			4	1093	+			331					B2RTQ3|E9PAJ6|Q5H9C0	Frame_Shift_Del	DEL	ENST00000338957.4	37	c.1026delC	CCDS48131.2																																																																																				0.443	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334		7	176						7	176	---	---	---	---	-	64719805	C	-	64719805	7	5	2	1	0	1	0	1	0	0	0	0	17559	738	26	0	1040	0	ZC3H12B	23	64719805	Frame_Shift_Del	DEL	C	TCGA-BJ-A0YZ-01A-11D-A10S-08		64719805	90550755	38	106											
DDX3Y	8653	broad.mit.edu	37	chrY	15024673	15024673	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacggagtgactatgatggtAttggcaatcgtgaaagacct	13	6	0	4			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chrY:15024673A>G	ENST00000336079.3	+	5	422	c.316A>G	c.(316-318)Att>Gtt	p.I106V	DDX3Y_ENST00000360160.4_Missense_Mutation_p.I106V	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked	106						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						CTATGATGGTATTGGCAATCG	0.433																																						ENST00000336079.3																			0				kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(316-318)Att>Gtt		DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked							132	130	130					Y																	15024673		629	2001	2630	SO:0001583	missense	8653					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding	g.chrY:15024673A>G	AF000984	CCDS14782.1	Yq11	2013-07-16	2013-07-16	2003-06-20	ENSG00000067048	ENSG00000067048		"DEAD-boxes"	2699	protein-coding gene	gene with protein product		400010	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide, Y chromosome", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked"	DBY		9381176	Standard	NM_004660		Approved		uc004fsv.2	O15523	OTTHUMG00000036324	ENST00000336079.3:c.316A>G	Y.37:g.15024673A>G	ENSP00000336725:p.Ile106Val					DDX3Y_ENST00000360160.4_Missense_Mutation_p.I106V	p.I106V	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN			5	422	+			106					B4DK29|B4DXX7|Q8IYV7	Missense_Mutation	SNP	ENST00000336079.3	37	c.316A>G	CCDS14782.1																																																																																				0.433	DDX3Y-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088407.1	NM_004660		4	65	0	0	0	0.014758	0	4	65					G	15024673	A	G	15024673	3	3	2	1	0	0	0	0	1	0	0	0	4359	449	16	3	334	3	DDX3Y	24	15024673	Missense_Mutation	SNP	A	TCGA-BJ-A0YZ-01A-11D-A10S-08		15024673	44348893	39	107											
RAP1GAP	5909	broad.mit.edu	37	chr1	21928276	21928276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctggggtcttctgaccaGccggagggctctccctgcgg	15	13	4	1			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr1:21928276G>A	ENST00000374765.4	-	20	1753	c.1553C>T	c.(1552-1554)gCt>gTt	p.A518V	RAP1GAP_ENST00000374761.2_Missense_Mutation_p.A549V|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.A582V|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.A603V|RAP1GAP_ENST00000542643.2_Missense_Mutation_p.A544V	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	518					GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CTTCTGACCAGCCGGAGGGCT	0.667																																						ENST00000542643.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17						c.(1630-1632)gCt>gTt		RAP1 GTPase activating protein							51	48	49					1																	21928276		2203	4300	6503	SO:0001583	missense	5909				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding	g.chr1:21928276G>A	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"RAP1, GTPase activating protein 1"	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.1553C>T	1.37:g.21928276G>A	ENSP00000363897:p.Ala518Val					RAP1GAP_ENST00000374763.2_Missense_Mutation_p.A603V|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.A549V|RAP1GAP_ENST00000374765.4_Missense_Mutation_p.A518V|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.A582V	p.A544V	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)	22	1933	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	518					J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Missense_Mutation	SNP	ENST00000374765.4	37	c.1631C>T	CCDS218.1	.	.	.	.	.	.	.	.	.	.	g	14.53	2.564132	0.45694	.	.	ENSG00000076864	ENST00000290101;ENST00000374761;ENST00000542643;ENST00000374765;ENST00000374763;ENST00000374758	D;D;D;D	0.89415	-2.48;-2.48;-2.51;-2.47	4.72	4.72	0.59763	.	0.398003	0.25394	N	0.030988	T	0.81494	0.4834	L	0.38175	1.15	0.25936	N	0.982931	P;P;B;P	0.39862	0.692;0.454;0.356;0.454	B;B;B;B	0.34536	0.117;0.038;0.185;0.038	T	0.75551	-0.3278	10	0.39692	T	0.17	-5.9044	10.971	0.47438	0.0:0.189:0.811:0.0	.	544;518;548;518	P47736-2;P47736;P47736-3;Q7Z5S8	.;RPGP1_HUMAN;.;.	V	582;549;544;518;548;603	ENSP00000290101:A582V;ENSP00000363893:A549V;ENSP00000441661:A544V;ENSP00000363897:A518V	ENSP00000290101:A582V	A	-	2	0	RAP1GAP	21800863	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	3.163000	0.50763	2.452000	0.82932	0.556000	0.70494	GCT		0.667	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885		12	65	0	0	0	0.38729	0	12	65					A	21928276	G	A	21928276	3	1	3	1	0	0	0	0	1	0	0	0	13037	971	34	2	458	2	RAP1GAP	1	21928276	Missense_Mutation	SNP	G	TCGA-BJ-A0Z0-01A-11D-A10S-08		21928276	227322345	1	108											
ZMYM1	79830	broad.mit.edu	37	chr1	35579878	35579878	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gacagtccatgatcgtacatTactatctgtgattgacagtc	8	9	1	3			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr1:35579878T>A	ENST00000373330.1	+	11	2621	c.2447T>A	c.(2446-2448)tTa>tAa	p.L816*	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Nonsense_Mutation_p.L816*			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	816						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GATCGTACATTACTATCTGTG	0.343																																						ENST00000373330.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31						c.(2446-2448)tTa>tAa		zinc finger, MYM-type 1							99	89	92					1																	35579878		1874	4119	5993	SO:0001587	stop_gained	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35579878T>A	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"Zinc fingers, MYM type"	26253	protein-coding gene	gene with protein product			"zinc finger, MYM domain containing 1"			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.2447T>A	1.37:g.35579878T>A	ENSP00000362427:p.Leu816*					ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Nonsense_Mutation_p.L816*	p.L816*			Q5SVZ6	ZMYM1_HUMAN			11	2621	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	816					D3DPR7|Q7Z3Q4	Nonsense_Mutation	SNP	ENST00000373330.1	37	c.2447T>A	CCDS41302.1	.	.	.	.	.	.	.	.	.	.	T	15.61	2.883886	0.51908	.	.	ENSG00000197056	ENST00000359858;ENST00000373329;ENST00000373330	.	.	.	3.91	3.91	0.45181	.	0.000000	0.37437	N	0.002089	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.3508	9.4269	0.38586	0.0:0.0:0.0:1.0	.	.	.	.	X	816;741;816	.	.	L	+	2	0	ZMYM1	35352465	0.002000	0.14202	0.003000	0.11579	0.014000	0.08584	1.321000	0.33678	2.006000	0.58801	0.374000	0.22700	TTA		0.343	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		4	121	0	0	0	0.150653	0	4	121					A	35579878	T	A	35579878	4	1	3	1	0	0	0	0	0	1	0	0	17696	1764	61	5	2481	5	ZMYM1	1	35579878	Nonsense_Mutation	SNP	T	TCGA-BJ-A0Z0-01A-11D-A10S-08	13651602	35579878	213670743	2	109											
HEYL	26508	broad.mit.edu	37	chr1	40092678	40092678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagggccagtgggcgtgggcGaaggctccatctcggctgcg	18	11	1	0	rs139668981	byFrequency	TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr1:40092678G>A	ENST00000372852.3	-	5	807	c.488C>T	c.(487-489)tCg>tTg	p.S163L	HEYL_ENST00000535435.1_Missense_Mutation_p.S135L	NM_014571.3	NP_055386	Q9NQ87	HEYL_HUMAN	hes-related family bHLH transcription factor with YRPW motif-like	163	Pro-rich.				atrioventricular valve morphogenesis (GO:0003181)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to BMP stimulus (GO:0071773)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|glomerulus development (GO:0032835)|mesenchymal cell development (GO:0014031)|negative regulation of androgen receptor activity (GO:2000824)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|pulmonary valve morphogenesis (GO:0003184)|skeletal muscle cell differentiation (GO:0035914)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-1 domain binding (GO:0050683)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|protein heterodimerization activity (GO:0046982)|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 core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGGCGTGGGCGAAGGCTCCAT	0.652																																						ENST00000372852.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7						c.(487-489)tCg>tTg		hes-related family bHLH transcription factor with YRPW motif-like		G	LEU/SER	3,4403	6.2+/-15.9	0,3,2200	67	60	63		488	2.0	0.1	1	dbSNP_134	63	0,8600		0,0,4300	yes	missense	HEYL	NM_014571.3	145	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	163/329	40092678	3,13003	2203	4300	6503	SO:0001583	missense	26508				multicellular organismal development|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:40092678G>A	BC006087	CCDS439.1	1p34.3	2013-10-17	2013-10-17		ENSG00000163909	ENSG00000163909		"Basic helix-loop-helix proteins"	4882	protein-coding gene	gene with protein product	"hairy/enhancer-of-split related with YRPW motif 3"	609034	"hairy/enhancer-of-split related with YRPW motif-like"			10415358, 10860664	Standard	NM_014571		Approved	bHLHb33, HEY3, HESR3	uc001cdp.3	Q9NQ87	OTTHUMG00000000458	ENST00000372852.3:c.488C>T	1.37:g.40092678G>A	ENSP00000361943:p.Ser163Leu					HEYL_ENST00000535435.1_Missense_Mutation_p.S135L	p.S163L	NM_014571.3	NP_055386.1	Q9NQ87	HEYL_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		5	807	-	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	163			Pro-rich.		Q5TG99	Missense_Mutation	SNP	ENST00000372852.3	37	c.488C>T	CCDS439.1	.	.	.	.	.	.	.	.	.	.	G	7.414	0.635416	0.14322	6.81E-4	0.0	ENSG00000163909	ENST00000372852;ENST00000535435	T;T	0.60040	0.23;0.22	5.02	2.02	0.26589	.	0.341096	0.30501	N	0.009484	T	0.49047	0.1534	L	0.58101	1.795	0.20196	N	0.999926	B	0.13145	0.007	B	0.08055	0.003	T	0.43653	-0.9378	10	0.49607	T	0.09	-16.095	8.0745	0.30708	0.1279:0.1326:0.7395:0.0	.	163	Q9NQ87	HEYL_HUMAN	L	163;135	ENSP00000361943:S163L;ENSP00000439071:S135L	ENSP00000361943:S163L	S	-	2	0	HEYL	39865265	0.002000	0.14202	0.083000	0.20561	0.107000	0.19398	0.847000	0.27696	0.131000	0.18576	0.462000	0.41574	TCG		0.652	HEYL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001179.2	NM_014571		40	51	0	0	0	0.864702	0	40	51					A	40092678	G	A	40092678	3	1	3	1	0	0	0	0	1	0	0	0	7080	1059	37	1	502	1	HEYL	1	40092678	Missense_Mutation	SNP	G	TCGA-BJ-A0Z0-01A-11D-A10S-08	4512800	40092678	209157943	3	110											
ADAM15	8751	broad.mit.edu	37	chr1	155029547	155029547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtccaggtccagccccagCcaagacctgcatcatggagg	11	15	1	1			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr1:155029547C>T	ENST00000356955.2	+	11	1219	c.1118C>T	c.(1117-1119)gCc>gTc	p.A373V	ADAM15_ENST00000359280.4_Missense_Mutation_p.A373V|ADAM15_ENST00000449910.2_Missense_Mutation_p.A373V|ADAM15_ENST00000271836.6_Missense_Mutation_p.A373V|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000360674.4_Missense_Mutation_p.A373V|ADAM15_ENST00000368412.3_Missense_Mutation_p.A373V|ADAM15_ENST00000355956.2_Missense_Mutation_p.A373V|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000531455.1_Missense_Mutation_p.A383V|ADAM15_ENST00000447332.3_Missense_Mutation_p.A357V	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	373	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCAGCCCCAGCCAAGACCTGC	0.642																																						ENST00000356955.2																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39						c.(1117-1119)gCc>gTc		ADAM metallopeptidase domain 15							40	43	42					1																	155029547		2203	4300	6503	SO:0001583	missense	8751				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr1:155029547C>T	U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"ADAM metallopeptidase domain containing"	193	protein-coding gene	gene with protein product	"metargidin"	605548	"a disintegrin and metalloproteinase domain 15 (metargidin)"			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.1118C>T	1.37:g.155029547C>T	ENSP00000349436:p.Ala373Val					ADAM15_ENST00000368412.3_Missense_Mutation_p.A373V|ADAM15_ENST00000271836.6_Missense_Mutation_p.A373V|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000449910.2_Missense_Mutation_p.A373V|ADAM15_ENST00000531455.1_Missense_Mutation_p.A383V|ADAM15_ENST00000359280.4_Missense_Mutation_p.A373V|ADAM15_ENST00000447332.3_Missense_Mutation_p.A357V|ADAM15_ENST00000360674.4_Missense_Mutation_p.A373V|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000355956.2_Missense_Mutation_p.A373V	p.A373V	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		11	1219	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		373			Peptidase M12B.		B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	ENST00000356955.2	37	c.1118C>T	CCDS1087.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422378	0.83559	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000271836;ENST00000531455	T;T;T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	4.76	3.85	0.44370	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.44688	D	0.000428	T	0.59649	0.2209	L	0.44542	1.39	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.76494	0.988;0.988;0.974;0.999;0.997;0.984;0.984;0.984;0.997;0.999;0.988	D;D;P;D;D;P;P;P;D;D;D	0.79108	0.909;0.909;0.688;0.986;0.984;0.853;0.853;0.853;0.984;0.992;0.909	T	0.63332	-0.6661	10	0.52906	T	0.07	.	8.6793	0.34198	0.0:0.8973:0.0:0.1027	.	383;390;357;373;373;373;373;373;373;373;370	E9PN65;B7Z390;B4DMH8;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444;Q59GF2	.;.;.;.;.;.;.;.;.;ADA15_HUMAN;.	V	373;373;373;373;373;373;373;383	ENSP00000349436:A373V;ENSP00000403843:A373V;ENSP00000352226:A373V;ENSP00000353892:A373V;ENSP00000357397:A373V;ENSP00000348227:A373V;ENSP00000271836:A373V;ENSP00000432927:A383V	ENSP00000271836:A373V	A	+	2	0	ADAM15	153296171	0.183000	0.23186	1.000000	0.80357	0.993000	0.82548	1.126000	0.31344	1.240000	0.43803	0.655000	0.94253	GCC		0.642	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815		13	52	0	0	0	0.479597	0	13	52					T	155029547	C	T	155029547	3	4	3	1	0	0	0	0	1	0	0	0	237	739	26	2	1160	2	ADAM15	1	155029547	Missense_Mutation	SNP	C	TCGA-BJ-A0Z0-01A-11D-A10S-08	114936869	155029547	94221074	4	111											
TROVE2	6738	broad.mit.edu	37	chr1	193038698	193038698	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctggcagttacaaaatatAaacagagaaatggctggtct	9	7	2	1			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr1:193038698A>G	ENST00000367446.3	+	2	724	c.514A>G	c.(514-516)Aaa>Gaa	p.K172E	TROVE2_ENST00000460715.2_Intron|TROVE2_ENST00000367443.1_Missense_Mutation_p.K172E|TROVE2_ENST00000432079.1_Intron|TROVE2_ENST00000367445.3_Missense_Mutation_p.K172E|TROVE2_ENST00000400968.2_Missense_Mutation_p.K172E|TROVE2_ENST00000416058.2_5'UTR|TROVE2_ENST00000367444.3_Missense_Mutation_p.K172E|TROVE2_ENST00000367441.1_Missense_Mutation_p.K172E	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	172	RNA-binding. {ECO:0000250}.|TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						TACAAAATATAAACAGAGAAA	0.458																																						ENST00000367446.3																			0				biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						c.(514-516)Aaa>Gaa		TROVE domain family, member 2							81	79	79					1																	193038698		1890	4119	6009	SO:0001583	missense	6738				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding	g.chr1:193038698A>G	BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.514A>G	1.37:g.193038698A>G	ENSP00000356416:p.Lys172Glu					TROVE2_ENST00000400968.2_Missense_Mutation_p.K172E|TROVE2_ENST00000432079.1_Intron|TROVE2_ENST00000460715.2_Intron|TROVE2_ENST00000367443.1_Missense_Mutation_p.K172E|TROVE2_ENST00000416058.2_5'UTR|TROVE2_ENST00000367445.3_Missense_Mutation_p.K172E|TROVE2_ENST00000367441.1_Missense_Mutation_p.K172E|TROVE2_ENST00000367444.3_Missense_Mutation_p.K172E	p.K172E	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN			2	724	+			172			TROVE.		B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Missense_Mutation	SNP	ENST00000367446.3	37	c.514A>G	CCDS1379.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.883187	0.91740	.	.	ENSG00000116747	ENST00000400968;ENST00000367446;ENST00000367443;ENST00000367445;ENST00000367444;ENST00000367441;ENST00000512587	T;T;T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44;2.44;2.44	5.75	5.75	0.90469	TROVE (2);	0.047145	0.85682	D	0.000000	T	0.37625	0.1010	M	0.80616	2.505	0.80722	D	1	P;P;P;D	0.58268	0.648;0.648;0.869;0.982	P;P;P;P	0.56865	0.652;0.652;0.583;0.808	T	0.20773	-1.0265	10	0.19590	T	0.45	-1.045	16.0663	0.80878	1.0:0.0:0.0:0.0	.	172;172;172;172	Q5LJ99;Q5LJ98;Q5LJA0;P10155	.;.;.;RO60_HUMAN	E	172;172;172;172;172;172;113	ENSP00000383752:K172E;ENSP00000356416:K172E;ENSP00000356413:K172E;ENSP00000356415:K172E;ENSP00000356414:K172E;ENSP00000356411:K172E;ENSP00000424612:K113E	ENSP00000356411:K172E	K	+	1	0	TROVE2	191305321	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	8.770000	0.91746	2.201000	0.70794	0.533000	0.62120	AAA		0.458	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086688.1	NM_004600		43	110	0	0	0	0.840704	0	43	110					G	193038698	A	G	193038698	3	3	3	1	0	0	0	0	1	0	0	0	16573	363	13	3	516	3	TROVE2	1	193038698	Missense_Mutation	SNP	A	TCGA-BJ-A0Z0-01A-11D-A10S-08	38009151	193038698	56211923	5	112											
CLK1	1195	broad.mit.edu	37	chr2	201719735	201719735	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attgtcacttactggaaataCggtaaacccaagatagtatt	7	7	1	1			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr2:201719735C>A	ENST00000321356.4	-	10	1267	c.1132G>T	c.(1132-1134)Gta>Tta	p.V378L	CLK1_ENST00000434813.2_Missense_Mutation_p.V420L|CLK1_ENST00000409769.2_Missense_Mutation_p.V201L	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	378	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						ACTGGAAATACGGTAAACCCA	0.388																																						ENST00000434813.2																			0				NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(1258-1260)Gta>Tta		CDC-like kinase 1							96	94	95					2																	201719735		2203	4300	6503	SO:0001583	missense	1195				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr2:201719735C>A	L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"CDC-like kinases"	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.1132G>T	2.37:g.201719735C>A	ENSP00000326830:p.Val378Leu					CLK1_ENST00000409769.2_Missense_Mutation_p.V201L|CLK1_ENST00000321356.4_Missense_Mutation_p.V378L	p.V420L	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN			10	1592	-			378			Protein kinase.		B4DFW7|Q0P694|Q8N5V8	Missense_Mutation	SNP	ENST00000321356.4	37	c.1258G>T	CCDS2331.1	.	.	.	.	.	.	.	.	.	.	C	1.759	-0.487345	0.04352	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000409769;ENST00000434813	T;T;T	0.17528	2.27;2.27;2.27	5.1	4.2	0.49525	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.205350	0.42172	D	0.000753	T	0.02649	0.0080	N	0.00121	-2.07	0.35566	D	0.805082	B;B;B;B	0.09022	0.001;0.002;0.0;0.001	B;B;B;B	0.12837	0.008;0.005;0.005;0.005	T	0.37865	-0.9687	10	0.02654	T	1	.	8.1359	0.31054	0.0:0.7135:0.1484:0.138	.	420;348;378;201	B4DFW7;E9PH13;P49759;B8ZZR0	.;.;CLK1_HUMAN;.	L	378;348;201;420	ENSP00000326830:V378L;ENSP00000386358:V201L;ENSP00000394734:V420L	ENSP00000326830:V378L	V	-	1	0	CLK1	201427980	0.035000	0.19736	0.999000	0.59377	0.856000	0.48823	0.250000	0.18235	2.525000	0.85131	0.563000	0.77884	GTA		0.388	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2			48	80	1	0	9.72345e-25	0.870114	1.09092e-24	48	80					A	201719735	C	A	201719735	3	1	3	1	0	0	0	0	1	0	0	0	3536	536	19	4	338	4	CLK1	2	201719735	Missense_Mutation	SNP	C	TCGA-BJ-A0Z0-01A-11D-A10S-08		201719735	41479638	6	113											
N4BP2	55728	broad.mit.edu	37	chr4	40113746	40113746	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatatctcctataattatagAtaatacaaacctacaggcat	4	8	1	1			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr4:40113746A>G	ENST00000261435.6	+	6	1957	c.1541A>G	c.(1540-1542)gAt>gGt	p.D514G		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	514					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						ATAATTATAGATAATACAAAC	0.274																																						ENST00000261435.6																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(1540-1542)gAt>gGt		NEDD4 binding protein 2							94	112	106					4																	40113746		2203	4297	6500	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40113746A>G	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"BCL-3 binding protein"					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.1541A>G	4.37:g.40113746A>G	ENSP00000261435:p.Asp514Gly						p.D514G	NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN			6	1957	+			514					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.1541A>G	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.691125	0.88735	.	.	ENSG00000078177	ENST00000261435;ENST00000381804	T	0.60797	0.16	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.77438	0.4130	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.994	T	0.80103	-0.1522	10	0.87932	D	0	-27.3898	16.635	0.85050	1.0:0.0:0.0:0.0	.	514;514	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	G	514;434	ENSP00000261435:D514G	ENSP00000261435:D514G	D	+	2	0	N4BP2	39790141	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.433000	0.90291	2.330000	0.79161	0.477000	0.44152	GAT		0.274	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		124	133	0	0	0	0.870114	0	124	133					G	40113746	A	G	40113746	3	3	3	1	0	0	0	0	1	0	0	0	10110	333	12	3	1555	3	N4BP2	4	40113746	Missense_Mutation	SNP	A	TCGA-BJ-A0Z0-01A-11D-A10S-08		40113746	151040530	7	114											
MUC7	4589	broad.mit.edu	37	chr4	71339788	71339788	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcactgagtgcttgctTctcggtaagtattcacccaa	9	11	2	1			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr4:71339788T>C	ENST00000304887.5	+	2	240	c.50T>C	c.(49-51)tTc>tCc	p.F17S	MUC7_ENST00000514512.1_Intron|MUC7_ENST00000413702.1_Missense_Mutation_p.F17S|MUC7_ENST00000456088.1_Missense_Mutation_p.F17S	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	17					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AGTGCTTGCTTCTCGGTAAGT	0.388																																						ENST00000413702.1																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(49-51)tTc>tCc		mucin 7, secreted							130	126	127					4																	71339788		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71339788T>C	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"Mucins"	7518	protein-coding gene	gene with protein product		158375	"mucin 7, salivary"			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.50T>C	4.37:g.71339788T>C	ENSP00000302021:p.Phe17Ser					MUC7_ENST00000304887.5_Missense_Mutation_p.F17S|MUC7_ENST00000456088.1_Missense_Mutation_p.F17S|MUC7_ENST00000514512.1_Intron	p.F17S	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		3	338	+			17					Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.50T>C	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	T	13.31	2.198545	0.38806	.	.	ENSG00000171195	ENST00000413702;ENST00000505411;ENST00000456088;ENST00000304887	T;T;T;T	0.55413	0.54;0.52;0.54;0.54	3.93	3.93	0.45458	.	.	.	.	.	T	0.55194	0.1905	N	0.24115	0.695	0.24752	N	0.992974	D	0.76494	0.999	D	0.72075	0.976	T	0.40478	-0.9561	8	.	.	.	-6.7394	9.4534	0.38741	0.0:0.0:0.0:1.0	.	17	Q8TAX7	MUC7_HUMAN	S	17	ENSP00000407422:F17S;ENSP00000427594:F17S;ENSP00000400585:F17S;ENSP00000302021:F17S	.	F	+	2	0	MUC7	71374377	0.966000	0.33281	0.997000	0.53966	0.504000	0.33889	2.887000	0.48586	2.005000	0.58758	0.460000	0.39030	TTC		0.388	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		49	97	0	0	0	0.870114	0	49	97					C	71339788	T	C	71339788	3	2	3	1	0	0	0	0	1	0	0	0	9981	1783	62	3	52	3	MUC7	4	71339788	Missense_Mutation	SNP	T	TCGA-BJ-A0Z0-01A-11D-A10S-08	31226042	71339788	119814488	8	115											
SHROOM3	57619	broad.mit.edu	37	chr4	77660335	77660335	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttcaaggtagggaggcccgaGcctcagcaaatggtcagggc	15	10	3	0			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr4:77660335G>C	ENST00000296043.6	+	5	1962	c.1009G>C	c.(1009-1011)Gcc>Ccc	p.A337P		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	337					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGAGGCCCGAGCCTCAGCAAA	0.552																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(1009-1011)Gcc>Ccc		shroom family member 3							56	61	59					4																	77660335		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77660335G>C	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.1009G>C	4.37:g.77660335G>C	ENSP00000296043:p.Ala337Pro						p.A337P	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	1962	+			337					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.1009G>C	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013781	0.35511	.	.	ENSG00000138771	ENST00000296043	T	0.47869	0.83	5.97	3.26	0.37387	.	0.766256	0.12196	N	0.490730	T	0.46444	0.1393	M	0.62723	1.935	0.19300	N	0.999978	P;B;B	0.49961	0.93;0.062;0.062	P;B;B	0.44860	0.462;0.023;0.023	T	0.24119	-1.0169	10	0.32370	T	0.25	-2.3986	8.1734	0.31268	0.1341:0.1308:0.7351:0.0	.	161;337;115	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	P	337	ENSP00000296043:A337P	ENSP00000296043:A337P	A	+	1	0	SHROOM3	77879359	0.001000	0.12720	0.018000	0.16275	0.627000	0.37826	1.187000	0.32090	0.384000	0.24942	0.655000	0.94253	GCC		0.552	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		48	95	0	0	0	0.870114	0	48	95					C	77660335	G	C	77660335	3	2	3	1	0	0	0	0	1	0	0	0	14295	971	34	4	1027	4	SHROOM3	4	77660335	Missense_Mutation	SNP	G	TCGA-BJ-A0Z0-01A-11D-A10S-08	6320547	77660335	113493941	9	116											
SHROOM3	57619	broad.mit.edu	37	chr4	77661752	77661752	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctctggttttggccataactAtaggccccacaggaccgtct	9	13	2	0			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr4:77661752A>T	ENST00000296043.6	+	5	3379	c.2426A>T	c.(2425-2427)tAt>tTt	p.Y809F		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	809					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGCCATAACTATAGGCCCCAC	0.552																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(2425-2427)tAt>tTt		shroom family member 3							59	67	64					4																	77661752		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77661752A>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.2426A>T	4.37:g.77661752A>T	ENSP00000296043:p.Tyr809Phe						p.Y809F	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	3379	+			809					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.2426A>T	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	a	14.31	2.497908	0.44455	.	.	ENSG00000138771	ENST00000296043	T	0.35973	1.28	5.52	1.48	0.22813	.	4.376620	0.00520	N	0.000188	T	0.38639	0.1048	M	0.62723	1.935	0.09310	N	1	B;B;B	0.18461	0.028;0.028;0.028	B;B;B	0.17433	0.018;0.018;0.018	T	0.16630	-1.0396	10	0.41790	T	0.15	-2.2554	6.6506	0.22959	0.588:0.1416:0.0:0.2705	.	633;809;587	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	F	809	ENSP00000296043:Y809F	ENSP00000296043:Y809F	Y	+	2	0	SHROOM3	77880776	.	.	0.005000	0.12908	0.002000	0.02628	.	.	0.026000	0.15269	0.375000	0.23000	TAT		0.552	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		29	80	0	0	0	0.717897	0	29	80					T	77661752	A	T	77661752	3	4	3	1	0	0	0	0	1	0	0	0	14295	449	16	5	2444	5	SHROOM3	4	77661752	Missense_Mutation	SNP	A	TCGA-BJ-A0Z0-01A-11D-A10S-08	1417	77661752	113492524	10	117											
SEC24B	10427	broad.mit.edu	37	chr4	110454843	110454843	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atcaataccacagaaaatggTcagtagattttatacacctt	5	8	2	2			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr4:110454843T>A	ENST00000265175.5	+	22	3643		c.e22+2		SEC24B_ENST00000504968.2_Splice_Site|SEC24B_ENST00000399100.2_Splice_Site	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B						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)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CAGAAAATGGTCAGTAGATTT	0.284																																						ENST00000265175.5																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.e22+2		SEC24 family member B							144	131	135					4																	110454843		1809	4069	5878	SO:0001630	splice_region_variant	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110454843T>A	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"SEC24 (S. cerevisiae) related gene family, member B", "SEC24 family, member B (S. cerevisiae)"			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.3588+2T>A	4.37:g.110454843T>A						SEC24B_ENST00000504968.2_Splice_Site|SEC24B_ENST00000399100.2_Splice_Site		NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	22	3643	+		Hepatocellular(203;0.217)						B7ZKM8|B7ZKN4|Q0VG08	Splice_Site	SNP	ENST00000265175.5	37		CCDS47124.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.397104	0.83120	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2322	0.82352	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SEC24B	110674292	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	7.318000	0.79029	2.288000	0.76882	0.528000	0.53228	.		0.284	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2		Intron	27	188	0	0	0	0.681144	0	27	188					A	110454843	T	A	110454843	5	1	3	1	0	0	0	0	0	0	1	0	13995	1681	58	5	3676	5	SEC24B	4	110454843	Splice_Site	SNP	T	TCGA-BJ-A0Z0-01A-11D-A10S-08	32793091	110454843	80699433	11	118											
MAP3K1	4214	broad.mit.edu	37	chr5	56181836	56181836	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttaactacactgaacagttaCtccgtggcctttcgtatctc	6	12	1	1			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr5:56181836C>G	ENST00000399503.3	+	17	4060	c.4060C>G	c.(4060-4062)Ctc>Gtc	p.L1354V		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1354	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TGAACAGTTACTCCGTGGCCT	0.338																																						ENST00000399503.3																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(4060-4062)Ctc>Gtc		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase							97	90	92					5																	56181836		1838	4086	5924	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56181836C>G	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.4060C>G	5.37:g.56181836C>G	ENSP00000382423:p.Leu1354Val						p.L1354V	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	17	4060	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	1354			Protein kinase.			Missense_Mutation	SNP	ENST00000399503.3	37	c.4060C>G	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826812	0.71143	.	.	ENSG00000095015	ENST00000399503	T	0.27890	1.64	5.51	5.51	0.81932	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	0.64402	D	0.000003	T	0.47192	0.1432	M	0.68593	2.085	0.54753	D	0.999983	P	0.46952	0.887	P	0.54706	0.759	T	0.45205	-0.9277	10	0.72032	D	0.01	.	13.1533	0.59503	0.0:0.9171:0.0:0.0829	.	1354	Q13233	M3K1_HUMAN	V	1354	ENSP00000382423:L1354V	ENSP00000382423:L1354V	L	+	1	0	MAP3K1	56217593	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	3.802000	0.55553	2.591000	0.87537	0.655000	0.94253	CTC		0.338	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		3	139	0	0	0	0.115264	0	3	139					G	56181836	C	G	56181836	3	3	3	1	0	0	0	0	1	0	0	0	9243	565	20	4	4126	4	MAP3K1	5	56181836	Missense_Mutation	SNP	C	TCGA-BJ-A0Z0-01A-11D-A10S-08		56181836	124733424	12	119											
BDP1	55814	broad.mit.edu	37	chr5	70805633	70805633	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagacaggtctgaaagcaaTgggaagagagatttgtctaa	14	4	2	4			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr5:70805633T>C	ENST00000358731.4	+	17	2977	c.2714T>C	c.(2713-2715)aTg>aCg	p.M905T	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	905	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CTGAAAGCAATGGGAAGAGAG	0.418																																						ENST00000358731.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2713-2715)aTg>aCg		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB							70	68	69					5																	70805633		1867	4097	5964	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70805633T>C	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.2714T>C	5.37:g.70805633T>C	ENSP00000351575:p.Met905Thr					BDP1_ENST00000380675.2_5'UTR	p.M905T	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	17	2977	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	905			9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.2714T>C	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	T	0.005	-2.128732	0.00342	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.10005	2.92	3.97	-5.57	0.02521	.	1.146510	0.06665	N	0.765092	T	0.01558	0.0050	N	0.00128	-2.045	0.09310	N	0.999992	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.39840	-0.9594	10	0.13853	T	0.58	.	2.9655	0.05907	0.1041:0.3667:0.3123:0.2168	.	905;905;905	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	T	905;485	ENSP00000351575:M905T	ENSP00000351575:M905T	M	+	2	0	BDP1	70841389	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.599000	0.05700	-1.822000	0.01211	-3.626000	0.00027	ATG		0.418	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		32	86	0	0	0	0.760397	0	32	86					C	70805633	T	C	70805633	3	2	3	1	0	0	0	0	1	0	0	0	1395	1464	51	3	2780	3	BDP1	5	70805633	Missense_Mutation	SNP	T	TCGA-BJ-A0Z0-01A-11D-A10S-08	14623797	70805633	110109627	13	120											
PCDHB1	29930	broad.mit.edu	37	chr5	140433491	140433491	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agattagagggccatgaccaGgtatctgatgactatatgta	11	6	1	5			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr5:140433491G>T	ENST00000306549.3	+	1	2513	c.2436G>T	c.(2434-2436)caG>caT	p.Q812H		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	812					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCATGACCAGGTATCTGATG	0.418																																						ENST00000306549.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53						c.(2434-2436)caG>caT									51	56	55					5																	140433491		2200	4299	6499	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140433491G>T	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"Cadherins / Protocadherins : Clustered"	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.2436G>T	5.37:g.140433491G>T	ENSP00000307234:p.Gln812His						p.Q812H	NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2513	+			812					Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	c.2436G>T	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.726714	0.30593	.	.	ENSG00000171815	ENST00000306549	T	0.49432	0.78	5.75	3.55	0.40652	.	0.631179	0.13057	N	0.417229	T	0.27419	0.0673	N	0.08118	0	0.09310	N	1	B	0.28512	0.214	B	0.31751	0.135	T	0.17048	-1.0382	10	0.54805	T	0.06	.	5.8316	0.18584	0.5276:0.0:0.4724:0.0	.	812	Q9Y5F3	PCDB1_HUMAN	H	812	ENSP00000307234:Q812H	ENSP00000307234:Q812H	Q	+	3	2	PCDHB1	140413675	0.002000	0.14202	0.065000	0.19835	0.858000	0.48976	1.140000	0.31516	1.265000	0.44215	0.650000	0.86243	CAG		0.418	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		31	139	1	0	6.04164e-23	0.750413	6.61704e-23	31	139					T	140433491	G	T	140433491	3	4	3	1	0	0	0	0	1	0	0	0	11534	991	35	4	2438	4	PCDHB1	5	140433491	Missense_Mutation	SNP	G	TCGA-BJ-A0Z0-01A-11D-A10S-08	69627858	140433491	40481769	14	121											
GEMIN5	25929	broad.mit.edu	37	chr5	154280951	154280951	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgcttcatacactttgtggaTggaaagtaggtgagaagcag	13	6	1	1			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr5:154280951T>A	ENST00000285873.7	-	21	3037	c.2962A>T	c.(2962-2964)Atc>Ttc	p.I988F		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	988					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACTTTGTGGATGGAAAGTAGG	0.453																																						ENST00000285873.7																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(2962-2964)Atc>Ttc		gem (nuclear organelle) associated protein 5							119	117	118					5																	154280951		2203	4300	6503	SO:0001583	missense	25929				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	g.chr5:154280951T>A	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"WD repeat domain containing"	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.2962A>T	5.37:g.154280951T>A	ENSP00000285873:p.Ile988Phe						p.I988F	NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		21	3037	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	988					Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	ENST00000285873.7	37	c.2962A>T	CCDS4330.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.801507	0.90538	.	.	ENSG00000082516	ENST00000285873	T	0.73681	-0.77	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.81403	0.4815	M	0.75264	2.295	0.80722	D	1	D;D	0.61080	0.989;0.989	P;P	0.54100	0.742;0.742	D	0.83833	0.0253	10	0.72032	D	0.01	-17.8524	12.8468	0.57833	0.0:0.0:0.1359:0.8641	.	987;988	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	F	988	ENSP00000285873:I988F	ENSP00000285873:I988F	I	-	1	0	GEMIN5	154261144	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.725000	0.54970	2.258000	0.74832	0.533000	0.62120	ATC		0.453	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			85	103	0	0	0	0.870114	0	85	103					A	154280951	T	A	154280951	3	1	3	1	0	0	0	0	1	0	0	0	6331	1464	51	5	1596	5	GEMIN5	5	154280951	Missense_Mutation	SNP	T	TCGA-BJ-A0Z0-01A-11D-A10S-08	13847460	154280951	26634309	15	122											
TBC1D9B	23061	broad.mit.edu	37	chr5	179302050	179302050	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccacggcgctctcgaaggGcatgacgctgaggaagaggg	17	10	1	3			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr5:179302050G>A	ENST00000356834.3	-	12	2075	c.2038C>T	c.(2038-2040)Ccc>Tcc	p.P680S	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.P680S	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	680	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCTCGAAGGGCATGACGCTG	0.602																																						ENST00000356834.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28						c.(2038-2040)Ccc>Tcc		TBC1 domain family, member 9B (with GRAM domain)							101	92	95					5																	179302050		2203	4300	6503	SO:0001583	missense	23061					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	g.chr5:179302050G>A	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"EF-hand domain containing"	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.2038C>T	5.37:g.179302050G>A	ENSP00000349291:p.Pro680Ser					TBC1D9B_ENST00000355235.3_Missense_Mutation_p.P680S	p.P680S	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		12	2075	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	680			Rab-GAP TBC.		D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	ENST00000356834.3	37	c.2038C>T	CCDS43408.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629998	0.87660	.	.	ENSG00000197226	ENST00000356834;ENST00000355235	T;T	0.28255	1.62;1.62	5.29	5.29	0.74685	Rab-GAP/TBC domain (4);	0.070373	0.64402	D	0.000016	T	0.54287	0.1849	L	0.60957	1.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.54207	-0.8328	10	0.56958	D	0.05	-31.5261	18.9378	0.92592	0.0:0.0:1.0:0.0	.	680;680;680	A1L3A9;Q66K14-2;Q66K14	.;.;TBC9B_HUMAN	S	680	ENSP00000349291:P680S;ENSP00000347375:P680S	ENSP00000347375:P680S	P	-	1	0	TBC1D9B	179234656	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	9.771000	0.98977	2.469000	0.83416	0.491000	0.48974	CCC		0.602	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		4	130	0	0	0	0.150653	0	4	130					A	179302050	G	A	179302050	3	1	3	1	0	0	0	0	1	0	0	0	15625	1203	42	2	1758	2	TBC1D9B	5	179302050	Missense_Mutation	SNP	G	TCGA-BJ-A0Z0-01A-11D-A10S-08	25021099	179302050	1613210	16	123											
ANKS1A	23294	broad.mit.edu	37	chr6	34985798	34985820	+	Frame_Shift_Del	DEL	CTAGAGAAGTCACCCTCCTTCGC	CTAGAGAAGTCACCCTCCTTCGC	-													gcagcattgggaagaaaaggCtagagaagtcaccctccttc					rs2820236|rs201954793	byFrequency	TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr6:34985798_34985820delCTAGAGAAGTCACCCTCCTTCGC	ENST00000360359.3	+	11	2110_2132	c.1972_1994delCTAGAGAAGTCACCCTCCTTCGC	c.(1972-1995)ctagagaagtcaccctccttcgccfs	p.LEKSPSFA658fs	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	658					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)		p.P662P(1)		cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GAAGAAAAGGCTAGAGAAGTCACCCTCCTTCGCCTCGGAGTGG	0.596																																						ENST00000360359.3																			1	Substitution - coding silent(1)	p.P662P(1)	lung(1)	cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1972-1995)cfs		ankyrin repeat and sterile alpha motif domain containing 1A																																				SO:0001589	frameshift_variant	23294					cytoplasm	protein binding	g.chr6:34985798_34985820delCTAGAGAAGTCACCCTCCTTCGC	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20961	protein-coding gene	gene with protein product		608994	"ankyrin repeat and SAM domain containing 1", "ankyrin repeat and sterile alpha motif domain containing 1"	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.1972_1994delCTAGAGAAGTCACCCTCCTTCGC	6.37:g.34985798_34985820delCTAGAGAAGTCACCCTCCTTCGC	ENSP00000353518:p.Leu658fs					ANKS1A_ENST00000535627.1_Intron	p.LEKSPSFA658fs	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN			11	2110_2132	+			658					A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Frame_Shift_Del	DEL	ENST00000360359.3	37	c.1972_1994delCTAGAGAAGTCACCCTCCTTCGC	CCDS4798.1																																																																																				0.596	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		37	277						37	277	---	---	---	---	-	34985820	CTAGAGAAGTCACCCTCCTTCGC	-	34985798	7	5	3	1	0	1	0	1	0	0	0	0	688	796	28	0	2014	0	ANKS1A	6	34985798	Frame_Shift_Del	DEL	CTAGAGAAGTCACCCTCCTTCGC	TCGA-BJ-A0Z0-01A-11D-A10S-08		34985798	136129269	17	124											
C7orf30	115416	broad.mit.edu	37	chr7	23349054	23349054	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatggaccctacgttcttaTgatgaccagttagctcagat	8	9	2	3			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr7:23349054T>C	ENST00000466681.1	+	4	750	c.597T>C	c.(595-597)taT>taC	p.Y199Y		NM_138446.1	NP_612455.1	Q96EH3	MASU1_HUMAN	mitochondrial assembly of ribosomal large subunit 1	199					negative regulation of mitochondrial translation (GO:0070130)|ribosomal large subunit biogenesis (GO:0042273)	mitochondrion (GO:0005739)											TACGTTCTTATGATGACCAGT	0.403																																						ENST00000466681.1																			0											c.(595-597)taT>taC		mitochondrial assembly of ribosomal large subunit 1							140	131	134					7																	23349054		2203	4300	6503	SO:0001819	synonymous_variant	115416					mitochondrion		g.chr7:23349054T>C	BC012331	CCDS5381.1	7p15.3	2013-05-24	2012-02-20	2012-02-20	ENSG00000156928	ENSG00000156928			21721	protein-coding gene	gene with protein product		614624	"chromosome 7 open reading frame 30"	C7orf30		22238376, 22238375	Standard	NM_138446		Approved	mtRsfA	uc003swd.1	Q96EH3	OTTHUMG00000128443	ENST00000466681.1:c.597T>C	7.37:g.23349054T>C							p.Y199Y	NM_138446.1	NP_612455.1	Q96EH3	CG030_HUMAN			4	750	+			199					A4D154	Silent	SNP	ENST00000466681.1	37	c.597T>C	CCDS5381.1																																																																																				0.403	MALSU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250241.2	NM_138446		12	154	0	0	0	0.435327	0	12	154					C	23349054	T	C	23349054	2	2	3	1	0	0	0	0	0	0	0	1	2386	1471	51	3		3	C7orf30	7	23349054	Silent	SNP	T	TCGA-BJ-A0Z0-01A-11D-A10S-08		23349054	135789609	18	125											
PRKDC	5591	broad.mit.edu	37	chr8	48749054	48749054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatcggagtgagaacagtaCttcggaaacgccaatcagaa	10	9	1	2			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr8:48749054C>T	ENST00000314191.2	-	59	7849	c.7793G>A	c.(7792-7794)aGt>aAt	p.S2598N	PRKDC_ENST00000338368.3_Missense_Mutation_p.S2598N|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2599	KIP-binding.		R -> Q (in dbSNP:rs55923149). {ECO:0000269|PubMed:17344846}.		B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GAGAACAGTACTTCGGAAACG	0.463								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(7792-7794)aGt>aAt	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							34	36	35					8																	48749054		1952	4145	6097	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48749054C>T		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.7793G>A	8.37:g.48749054C>T	ENSP00000313420:p.Ser2598Asn					PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.S2598N	p.S2598N	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			59	7849	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2599		R -> Q (in dbSNP:rs55923149).	KIP-binding.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.7793G>A		.	.	.	.	.	.	.	.	.	.	C	19.01	3.743836	0.69418	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02140	4.51;4.43	5.67	5.67	0.87782	.	0.049104	0.85682	D	0.000000	T	0.07999	0.0200	L	0.46614	1.455	0.58432	D	0.999996	D;D	0.71674	0.972;0.998	P;P	0.62649	0.786;0.905	T	0.51601	-0.8685	10	0.20046	T	0.44	.	18.745	0.91789	0.0:1.0:0.0:0.0	.	2598;2599	E7EUY0;P78527	.;PRKDC_HUMAN	N	2598	ENSP00000313420:S2598N;ENSP00000345182:S2598N	ENSP00000313420:S2598N	S	-	2	0	PRKDC	48911607	1.000000	0.71417	0.992000	0.48379	0.426000	0.31534	3.604000	0.54081	2.671000	0.90904	0.585000	0.79938	AGT		0.463	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		3	26	0	0	0	0.150653	0	3	26					T	48749054	C	T	48749054	3	4	3	1	0	0	0	0	1	0	0	0	12521	565	20	2	4706	2	PRKDC	8	48749054	Missense_Mutation	SNP	C	TCGA-BJ-A0Z0-01A-11D-A10S-08		48749054	97614968	19	126											
ENPP2	5168	broad.mit.edu	37	chr8	120575209	120575209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagacagctggtgatgatgCtgtagtagtgagttggaaca	14	6	0	4			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr8:120575209C>T	ENST00000075322.6	-	24	2367	c.2309G>A	c.(2308-2310)aGc>aAc	p.S770N	ENPP2_ENST00000259486.6_Missense_Mutation_p.S822N|ENPP2_ENST00000522826.1_Missense_Mutation_p.S795N|ENPP2_ENST00000427067.2_Missense_Mutation_p.S791N|ENPP2_ENST00000522167.1_Missense_Mutation_p.S405N	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	770					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GGTGATGATGCTGTAGTAGTG	0.507																																					Melanoma(20;305 879 2501 4818 31020)	ENST00000427067.2																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(2371-2373)aGc>aAc		ectonucleotide pyrophosphatase/phosphodiesterase 2							141	118	126					8																	120575209		2203	4300	6503	SO:0001583	missense	0				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120575209C>T	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"autotaxin"	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.2309G>A	8.37:g.120575209C>T	ENSP00000075322:p.Ser770Asn					ENPP2_ENST00000259486.6_Missense_Mutation_p.S822N|ENPP2_ENST00000522826.1_Missense_Mutation_p.S795N|ENPP2_ENST00000522167.1_Missense_Mutation_p.S405N|ENPP2_ENST00000075322.6_Missense_Mutation_p.S770N	p.S791N			Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		25	2552	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		770					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.2372G>A	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456081	0.63401	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.8	5.8	0.92144	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.460028	0.26895	N	0.021955	T	0.61311	0.2337	N	0.22421	0.69	0.29029	N	0.885805	P;P;B;B;P	0.38745	0.645;0.626;0.393;0.439;0.535	B;B;B;B;B	0.43838	0.433;0.403;0.223;0.195;0.223	T	0.64296	-0.6441	10	0.72032	D	0.01	.	16.532	0.84364	0.0:0.8609:0.139:0.0	.	308;795;770;822;405	B4DJD3;E9PHP7;Q13822;Q13822-2;E5RIA2	.;.;ENPP2_HUMAN;.;.	N	822;791;405;795;770	ENSP00000259486:S822N;ENSP00000403315:S791N;ENSP00000429476:S405N;ENSP00000428291:S795N;ENSP00000075322:S770N	ENSP00000075322:S770N	S	-	2	0	ENPP2	120644390	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.408000	0.52651	2.732000	0.93576	0.650000	0.86243	AGC		0.507	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			8	68	0	0	0	0.307466	0	8	68					T	120575209	C	T	120575209	3	4	3	1	0	0	0	0	1	0	0	0	5130	797	28	2	290	2	ENPP2	8	120575209	Missense_Mutation	SNP	C	TCGA-BJ-A0Z0-01A-11D-A10S-08	71826155	120575209	25788813	20	127											
TG	7038	broad.mit.edu	37	chr8	133894135	133894135	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgcatttgtgaccttcagTtccttccagaggaggttccc	10	11	1	2			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr8:133894135T>C	ENST00000220616.4	+	6	706	c.666T>C	c.(664-666)agT>agC	p.S222S	TG_ENST00000377869.1_Silent_p.S222S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	222	Thyroglobulin type-1 3. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGACCTTCAGTTCCTTCCAGA	0.483																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(664-666)agT>agC		thyroglobulin							133	115	121					8																	133894135		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133894135T>C	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.666T>C	8.37:g.133894135T>C						TG_ENST00000377869.1_Silent_p.S222S	p.S222S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	6	706	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	222			Thyroglobulin type-1 3.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.666T>C	CCDS34944.1																																																																																				0.483	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		44	87	0	0	0	0.870114	0	44	87					C	133894135	T	C	133894135	2	2	3	1	0	0	0	0	0	0	0	1	15810	1722	60	3		3	TG	8	133894135	Silent	SNP	T	TCGA-BJ-A0Z0-01A-11D-A10S-08	13318926	133894135	12469887	21	128											
FANCC	2176	broad.mit.edu	37	chr9	98009734	98009734	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catatgctaaaataaaaggaTtccaacaagcttttgccaac	5	9	0	0			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr9:98009734T>C	ENST00000289081.3	-	3	484	c.230A>G	c.(229-231)aAt>aGt	p.N77S	FANCC_ENST00000375305.1_Missense_Mutation_p.N77S	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	77					DNA repair (GO:0006281)|germ cell development (GO:0007281)|myeloid cell homeostasis (GO:0002262)|nucleotide-excision repair (GO:0006289)|protein complex assembly (GO:0006461)|removal of superoxide radicals (GO:0019430)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				AATAAAAGGATTCCAACAAGC	0.338			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000289081.3			yes	Rec		Fanconi anaemia C	9	9q22.3	2176	"D, Mis, N, F, S"	"Fanconi anemia, complementation group C"			L		"AML, leukemia"			0				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(229-231)aAt>aGt	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group C							125	133	131					9																	98009734		2203	4300	6503	SO:0001583	missense	2176	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	protein complex assembly	cytosol|nucleoplasm	protein binding	g.chr9:98009734T>C	BC006303	CCDS35071.1, CCDS75861.1	9q22.3	2014-09-17			ENSG00000158169	ENSG00000158169		"Fanconi anemia, complementation groups"	3584	protein-coding gene	gene with protein product		613899		FACC		1303234	Standard	NM_001243743		Approved	FAC, FA3	uc004avh.3	Q00597	OTTHUMG00000020279	ENST00000289081.3:c.230A>G	9.37:g.98009734T>C	ENSP00000289081:p.Asn77Ser					FANCC_ENST00000375305.1_Missense_Mutation_p.N77S	p.N77S	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN			3	484	-		Acute lymphoblastic leukemia(62;0.138)	77					B1ALR8	Missense_Mutation	SNP	ENST00000289081.3	37	c.230A>G	CCDS35071.1	.	.	.	.	.	.	.	.	.	.	T	13.87	2.364922	0.41902	.	.	ENSG00000158169	ENST00000289081;ENST00000375305;ENST00000433829	T;T;T	0.54071	0.59;0.59;0.59	5.49	4.35	0.52113	.	0.246508	0.45361	D	0.000363	T	0.42063	0.1186	L	0.38175	1.15	0.32107	N	0.589805	P;P	0.36753	0.568;0.568	B;B	0.36608	0.229;0.229	T	0.55010	-0.8207	10	0.52906	T	0.07	-7.1116	10.1494	0.42784	0.0:0.0749:0.0:0.9251	.	77;77	B1ALR7;Q00597	.;FANCC_HUMAN	S	77	ENSP00000289081:N77S;ENSP00000364454:N77S;ENSP00000406908:N77S	ENSP00000289081:N77S	N	-	2	0	FANCC	97049555	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	3.835000	0.55805	1.113000	0.41760	0.524000	0.50904	AAT		0.338	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053219.1	NM_000136		3	197	0	0	0	0.115264	0	3	197					C	98009734	T	C	98009734	3	2	3	1	0	0	0	0	1	0	0	0	5664	1493	52	3	1498	3	FANCC	9	98009734	Missense_Mutation	SNP	T	TCGA-BJ-A0Z0-01A-11D-A10S-08		98009734	43203697	22	129											
SLC27A4	10999	broad.mit.edu	37	chr9	131112771	131112771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccttcccaggtattaccGcatggctgccctggtgtact	11	13	0	0			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr9:131112771G>A	ENST00000300456.4	+	6	911	c.794G>A	c.(793-795)cGc>cAc	p.R265H	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	265					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						AGGTATTACCGCATGGCTGCC	0.627																																					Pancreas(107;1554 2241 10946 12953)	ENST00000300456.3																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						c.(793-795)cGc>cAc		solute carrier family 27 (fatty acid transporter), member 4							69	56	60					9																	131112771		2203	4300	6503	SO:0001583	missense	10999				long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding	g.chr9:131112771G>A	AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"Acyl-CoA synthetase family", "Solute carriers"	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.794G>A	9.37:g.131112771G>A	ENSP00000300456:p.Arg265His					SLC27A4_ENST00000372870.1_Intron	p.R265H	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN			6	911	+			265					A8K2F7|O95186|Q96G53	Missense_Mutation	SNP	ENST00000300456.4	37	c.794G>A	CCDS6899.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.863525	0.91511	.	.	ENSG00000167114	ENST00000300456	T	0.40756	1.02	5.08	5.08	0.68730	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.62319	0.2418	M	0.76574	2.34	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.56962	-0.7892	10	0.15952	T	0.53	-25.6073	17.6262	0.88095	0.0:0.0:1.0:0.0	.	265	Q6P1M0	S27A4_HUMAN	H	265	ENSP00000300456:R265H	ENSP00000300456:R265H	R	+	2	0	SLC27A4	130152592	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.263000	0.95617	2.639000	0.89480	0.563000	0.77884	CGC		0.627	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054432.2			4	59	0	0	0	0.150653	0	4	59					A	131112771	G	A	131112771	3	1	3	1	0	0	0	0	1	0	0	0	14528	1087	38	1	812	1	SLC27A4	9	131112771	Missense_Mutation	SNP	G	TCGA-BJ-A0Z0-01A-11D-A10S-08	33103037	131112771	10100660	23	130											
PTEN	5728	broad.mit.edu	37	chr10	89692932	89692932	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtaatgatatgtgcatattTattacatcggggcaaatttt	8	4	0	1			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr10:89692932T>A	ENST00000371953.3	+	5	1773	c.416T>A	c.(415-417)tTa>tAa	p.L139*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	139	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|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 proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.L139*(5)|p.L139fs*40(2)|p.Y27fs*1(2)|p.L139fs*7(1)|p.A121_F145del(1)|p.I135fs*6(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGTGCATATTTATTACATCGG	0.383		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		60	Whole gene deletion(37)|Deletion - Frameshift(12)|Substitution - Nonsense(5)|Unknown(5)|Deletion - In frame(1)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.L139*(5)|p.L139fs*40(2)|p.Y27fs*1(2)|p.L139fs*7(1)|p.A121_F145del(1)|p.I135fs*6(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(12)|skin(9)|endometrium(5)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|cervix(1)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CD075527|CM033667|CM983502	PTEN	D|M		c.(415-417)tTa>tAa		phosphatase and tensin homolog							106	102	103					10																	89692932		2203	4300	6503	SO:0001587	stop_gained	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692932T>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.416T>A	10.37:g.89692932T>A	ENSP00000361021:p.Leu139*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.L139*	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1773	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	139			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.416T>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	48	14.413217	0.99794	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.9534	15.1019	0.72284	0.0:0.0:0.0:1.0	.	.	.	.	X	139	.	.	L	+	2	0	PTEN	89682912	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.661000	0.83786	1.953000	0.56701	0.533000	0.62120	TTA		0.383	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		20	66	0	0	0	0.575678	0	20	66					A	89692932	T	A	89692932	4	1	3	1	0	0	0	0	0	1	0	0	12738	1764	61	5	434	5	PTEN	10	89692932	Nonsense_Mutation	SNP	T	TCGA-BJ-A0Z0-01A-11D-A10S-08		89692932	45841815	24	131											
PTEN	5728	broad.mit.edu	37	chr10	89711928	89711928	+	Frame_Shift_Del	DEL	A	A	-													tattattatagctacctgttAaagaatcatctggattatag							TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr10:89711928delA	ENST00000371953.3	+	6	1903	c.546delA	c.(544-546)ttafs	p.L182fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	182	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|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 proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.L182fs*16(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.K183fs*7(1)|p.L182F(1)|p.V175fs*3(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GCTACCTGTTAAAGAATCATC	0.388		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		60	Whole gene deletion(37)|Deletion - Frameshift(13)|Unknown(4)|Complex - frameshift(3)|Deletion - In frame(1)|Insertion - Frameshift(1)|Substitution - Missense(1)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.L182fs*16(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.K183fs*7(1)|p.L182F(1)|p.V175fs*3(1)	prostate(16)|central_nervous_system(15)|skin(10)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|endometrium(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)|pancreas(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(544-546)ttfs		phosphatase and tensin homolog							144	144	144					10																	89711928		2203	4300	6503	SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89711928delA	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.546delA	10.37:g.89711928delA	ENSP00000361021:p.Leu182fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.L182fs	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1903	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	182			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.546delA	CCDS31238.1																																																																																				0.388	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		87	77						87	77	---	---	---	---	-	89711928	A	-	89711928	7	5	3	1	0	1	0	1	0	0	0	0	12738	359	13	0	568	0	PTEN	10	89711928	Frame_Shift_Del	DEL	A	TCGA-BJ-A0Z0-01A-11D-A10S-08	18996	89711928	45822819	25	132											
TRIM34	53840	broad.mit.edu	37	chr11	5653565	5653565	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gccagggaagcagtgcaatgGcttcaaaaatcttgcttaac	10	9	2	0			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr11:5653565G>C	ENST00000514226.1	+	2	341	c.4G>C	c.(4-6)Gct>Cct	p.A2P	HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.A356P|TRIM34_ENST00000429814.2_Missense_Mutation_p.A2P|TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.A2P	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34	2					positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	17		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;5.72e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGTGCAATGGCTTCAAAAAT	0.517											OREG0003725	type=REGULATORY REGION|Gene=TRIM34|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000354852.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33						c.(1066-1068)Gct>Cct									122	109	113					11																	5653565		2201	4297	6498	SO:0001583	missense	0					intracellular	zinc ion binding	g.chr11:5653565G>C	AB039902	CCDS31391.1	11p15	2013-01-09	2011-01-25	2001-11-23		ENSG00000258659		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10063	protein-coding gene	gene with protein product		605684	"tripartite motif-containing 34"	RNF21			Standard	NM_130390		Approved			Q9BYJ4	OTTHUMG00000066892	ENST00000514226.1:c.4G>C	11.37:g.5653565G>C	ENSP00000422947:p.Ala2Pro		OREG0003725	type=REGULATORY REGION|Gene=TRIM34|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	628	TRIM34_ENST00000514226.1_Missense_Mutation_p.A2P|TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.A2P|HBG2_ENST00000380259.2_Intron|TRIM34_ENST00000429814.2_Missense_Mutation_p.A2P	p.A356P	NM_001003819.3	NP_001003819.1	B2RNG4	B2RNG4_HUMAN		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)	8	1239	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	356					D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Missense_Mutation	SNP	ENST00000514226.1	37	c.1066G>C	CCDS31391.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570944	0.86542	.	.	ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258588	ENST00000337072;ENST00000514226;ENST00000429814;ENST00000457787;ENST00000354852	T;T;T;D	0.84730	-0.71;-0.71;-0.71;-1.89	3.07	3.07	0.35406	.	1.201000	0.06473	N	0.731518	D	0.93746	0.8001	M	0.89968	3.075	0.30447	N	0.775669	D;D;P	0.76494	0.999;0.992;0.799	D;D;B	0.78314	0.991;0.935;0.292	D	0.84976	0.0885	10	0.66056	D	0.02	.	12.3957	0.55382	0.0:0.0:1.0:0.0	.	2;2;356	Q9BYJ4-2;Q9BYJ4;B2RNG4	.;TRI34_HUMAN;.	P	356;2;2;2;356	ENSP00000422947:A2P;ENSP00000402595:A2P;ENSP00000395982:A2P;ENSP00000346916:A356P	ENSP00000402595:A2P	A	+	1	0	TRIM34;TRIM6-TRIM34	5610141	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	2.064000	0.41432	2.031000	0.59945	0.555000	0.69702	GCT		0.517	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143357.2	NM_001003827		23	124	0	0	0	0.624587	0	23	124					C	5653565	G	C	5653565	3	2	3	1	0	0	0	0	1	0	0	0	16505	1203	42	4	6	4	TRIM34	11	5653565	Missense_Mutation	SNP	G	TCGA-BJ-A0Z0-01A-11D-A10S-08		5653565	129352951	26	133											
FANCF	2188	broad.mit.edu	37	chr11	22646539	22646539	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgttagcagacccagatagAcaggagacagcgctgggtgg	15	9	0	4			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr11:22646539A>C	ENST00000327470.3	-	1	848	c.818T>G	c.(817-819)gTc>gGc	p.V273G	AC103801.2_ENST00000428556.2_5'Flank	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	273					DNA repair (GO:0006281)|ovarian follicle development (GO:0001541)|spermatogenesis (GO:0007283)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						ACCCAGATAGACAGGAGACAG	0.552			"N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000327470.3			yes	Rec		Fanconi anaemia F	11	11p15	2188	"N, F"	"Fanconi anemia, complementation group F"			L		"AML, leukemia"			0				kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						c.(817-819)gTc>gGc	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group F							54	61	58					11																	22646539		2203	4300	6503	SO:0001583	missense	2188	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm	protein binding	g.chr11:22646539A>C		CCDS7857.1	11p15	2014-09-17				ENSG00000183161		"Fanconi anemia, complementation groups"	3587	protein-coding gene	gene with protein product		613897				9382107	Standard	NM_022725		Approved	FAF	uc001mql.1	Q9NPI8		ENST00000327470.3:c.818T>G	11.37:g.22646539A>C	ENSP00000330875:p.Val273Gly		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	757		p.V273G	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN			1	848	-			273					Q52LM0	Missense_Mutation	SNP	ENST00000327470.3	37	c.818T>G	CCDS7857.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.887916	0.33348	.	.	ENSG00000183161	ENST00000327470	T	0.35048	1.33	5.41	-3.69	0.04450	.	1.110220	0.07015	N	0.825849	T	0.27278	0.0669	L	0.40543	1.245	0.09310	N	0.999996	B	0.15141	0.012	B	0.14578	0.011	T	0.33675	-0.9859	10	0.33141	T	0.24	-4.4098	9.7752	0.40614	0.1675:0.2383:0.5942:0.0	.	273	Q9NPI8	FANCF_HUMAN	G	273	ENSP00000330875:V273G	ENSP00000330875:V273G	V	-	2	0	FANCF	22603115	0.170000	0.23016	0.010000	0.14722	0.194000	0.23727	0.044000	0.13992	-0.503000	0.06586	0.459000	0.35465	GTC		0.552	FANCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387712.2	NM_022725		5	133	0	0	0	0.217242	0	5	133					C	22646539	A	C	22646539	3	2	3	1	0	0	0	0	1	0	0	0	5667	275	10	5	310	5	FANCF	11	22646539	Missense_Mutation	SNP	A	TCGA-BJ-A0Z0-01A-11D-A10S-08	16992974	22646539	112359977	27	134											
AGBL1	123624	broad.mit.edu	37	chr15	86697783	86697783	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgggctctgcgtgtgtttGcctccagtggtaagtgactc	13	10	2	1			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr15:86697783G>T	ENST00000441037.2	+	3	342	c.247G>T	c.(247-249)Gcc>Tcc	p.A83S	AGBL1_ENST00000421325.2_Missense_Mutation_p.A83S	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	83					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						GCGTGTGTTTGCCTCCAGTGG	0.522																																						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.(247-249)Gcc>Tcc		ATP/GTP binding protein-like 1							97	98	98					15																	86697783		2025	4191	6216	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86697783G>T	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.247G>T	15.37:g.86697783G>T	ENSP00000413001:p.Ala83Ser					AGBL1_ENST00000421325.2_Missense_Mutation_p.A83S	p.A83S	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN			3	342	+			83					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.247G>T	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	7.282	0.609293	0.14066	.	.	ENSG00000166748	ENST00000441037;ENST00000421325	T	0.56444	0.46	5.41	4.49	0.54785	Armadillo-like helical (1);Armadillo-type fold (1);	.	.	.	.	T	0.35913	0.0948	L	0.31578	0.945	0.80722	D	1	B	0.27882	0.192	B	0.25987	0.065	T	0.11518	-1.0584	9	0.07030	T	0.85	-9.5684	11.8983	0.52669	0.0:0.0:0.8258:0.1742	.	83	Q96MI9	CBPC4_HUMAN	S	112;83	ENSP00000397173:A83S	ENSP00000397173:A83S	A	+	1	0	AGBL1	84498787	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	2.168000	0.42424	1.393000	0.46605	0.655000	0.94253	GCC		0.522	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		6	42	1	0	3.09899e-07	0.307466	3.31519e-07	6	42					T	86697783	G	T	86697783	3	4	3	1	0	0	0	0	1	0	0	0	375	1319	46	4	253	4	AGBL1	15	86697783	Missense_Mutation	SNP	G	TCGA-BJ-A0Z0-01A-11D-A10S-08		86697783	15833609	28	135											
FAM169B	283777	broad.mit.edu	37	chr15	98982901	98982901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgcctggtggctgccctgCcagcccggcatcctcctctt	10	18	1	0			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr15:98982901C>T	ENST00000558256.1	-	7	787	c.538G>A	c.(538-540)Gca>Aca	p.A180T	FAM169B_ENST00000332908.4_Missense_Mutation_p.A180T	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	180										large_intestine(3)|lung(3)|urinary_tract(1)	7						GGCTGCCCTGCCAGCCCGGCA	0.587																																						ENST00000558256.1																			0				large_intestine(3)|lung(3)|urinary_tract(1)	7						c.(538-540)Gca>Aca		family with sequence similarity 169, member B							76	78	77					15																	98982901		1996	4164	6160	SO:0001583	missense	283777							g.chr15:98982901C>T		CCDS45360.1	15q26.3	2008-08-08			ENSG00000185087	ENSG00000185087			26835	protein-coding gene	gene with protein product							Standard	NM_182562		Approved	FLJ39743, KIAA0888L	uc002buk.1	Q8N8A8		ENST00000558256.1:c.538G>A	15.37:g.98982901C>T	ENSP00000453554:p.Ala180Thr					FAM169B_ENST00000332908.4_Missense_Mutation_p.A180T	p.A180T	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN			7	787	-			180					B5MDL8	Missense_Mutation	SNP	ENST00000558256.1	37	c.538G>A	CCDS45360.1	.	.	.	.	.	.	.	.	.	.	C	9.499	1.102826	0.20632	.	.	ENSG00000185087	ENST00000332908	T	0.52983	0.64	2.93	0.956	0.19608	.	2.328530	0.01834	N	0.034908	T	0.28599	0.0708	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.16289	0.015	T	0.16512	-1.0400	10	0.34782	T	0.22	.	5.1223	0.14867	0.2217:0.5173:0.261:0.0	.	180	Q8N8A8	F169B_HUMAN	T	180	ENSP00000332615:A180T	ENSP00000332615:A180T	A	-	1	0	FAM169B	96800424	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.473000	0.00988	0.286000	0.22352	0.650000	0.86243	GCA		0.587	FAM169B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415488.1	NM_182562		12	50	0	0	0	0.411799	0	12	50					T	98982901	C	T	98982901	3	4	3	1	0	0	0	0	1	0	0	0	5488	739	26	2	44	2	FAM169B	15	98982901	Missense_Mutation	SNP	C	TCGA-BJ-A0Z0-01A-11D-A10S-08	12285118	98982901	3548491	29	136											
SNTB2	6645	broad.mit.edu	37	chr16	69279566	69279566	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattagtatcagatctgccGtgggaaggtgcagcccccca	11	12	3	1	rs143099113		TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr16:69279566G>A	ENST00000336278.4	+	2	680	c.642G>A	c.(640-642)ccG>ccA	p.P214P	SNTB2_ENST00000528525.1_3'UTR	NM_006750.3	NP_006741.1	Q13425	SNTB2_HUMAN	syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)	214	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|microtubule (GO:0005874)|protein complex (GO:0043234)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		CAGATCTGCCGTGGGAAGGTG	0.448																																					NSCLC(58;1458 1722 3262 39967)|Melanoma(111;1698 2173 25379 28738)	ENST00000336278.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13						c.(640-642)ccG>ccA		syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)		G		0,4396		0,0,2198	203	195	197		642	-3.8	1.0	16	dbSNP_134	197	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SNTB2	NM_006750.3		0,2,6496	AA,AG,GG		0.0233,0.0,0.0154		214/541	69279566	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	6645					cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane	actin binding|calmodulin binding|protein binding	g.chr16:69279566G>A	U40572	CCDS10873.1	16q22.1	2008-05-14	2002-08-29		ENSG00000168807	ENSG00000168807			11169	protein-coding gene	gene with protein product		600027	"syntrophin, beta 2 (dystrophin-associated protein A1, 59kD, basic component 2)"	SNT2B2, SNTL, D16S2531E		8576247, 8183929	Standard	NM_006750		Approved	EST25263, SNT3	uc002ewu.3	Q13425	OTTHUMG00000137567	ENST00000336278.4:c.642G>A	16.37:g.69279566G>A						SNTB2_ENST00000528525.1_3'UTR	p.P214P	NM_006750.3	NP_006741.1	Q13425	SNTB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.208)	2	680	+		Ovarian(137;0.101)	214			PH 1.		Q9BY09	Silent	SNP	ENST00000336278.4	37	c.642G>A	CCDS10873.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.537|9.537	1.112328|1.112328	0.20795|0.20795	0.0|0.0	2.33E-4|2.33E-4	ENSG00000168807|ENSG00000168807	ENST00000525632;ENST00000528525|ENST00000360496;ENST00000534235	.|.	.|.	.|.	5.75|5.75	-3.75|-3.75	0.04372|0.04372	.|.	.|.	.|.	.|.	.|.	T|T	0.40297|0.40297	0.1111|0.1111	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.35798|0.35798	-0.9774|-0.9774	4|4	.|.	.|.	.|.	-0.4595|-0.4595	3.6992|3.6992	0.08376|0.08376	0.3021:0.3962:0.2169:0.0848|0.3021:0.3962:0.2169:0.0848	.|.	.|.	.|.	.|.	H|M	83;56|71;51	.|.	.|.	R|V	+|+	2|1	0|0	SNTB2|SNTB2	67837067|67837067	0.006000|0.006000	0.16342|0.16342	0.991000|0.991000	0.47740|0.47740	0.986000|0.986000	0.74619|0.74619	-0.970000|-0.970000	0.03810|0.03810	-0.448000|-0.448000	0.07128|0.07128	-0.378000|-0.378000	0.06908|0.06908	CGT|GTG		0.448	SNTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268945.1			107	263	0	0	0	0.870114	0	107	263					A	69279566	G	A	69279566	2	1	3	1	0	0	0	0	0	0	0	1	14873	1132	40	1		1	SNTB2	16	69279566	Silent	SNP	G	TCGA-BJ-A0Z0-01A-11D-A10S-08		69279566	21075187	30	137											
TCEB3B	51224	broad.mit.edu	37	chr18	44560437	44560437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgcagtggtggcagattttCcagtctttttcttttgcttc	10	8	2	1			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr18:44560437C>T	ENST00000332567.4	-	1	1551	c.1199G>A	c.(1198-1200)gGa>gAa	p.G400E	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	400					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGCAGATTTTCCAGTCTTTTT	0.478																																						ENST00000332567.4																			0				breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1198-1200)gGa>gAa		transcription elongation factor B polypeptide 3B (elongin A2)							114	102	106					18																	44560437		2203	4300	6503	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44560437C>T	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"transcription elongation factor (SIII) elongin A2", "elongin A2"	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1199G>A	18.37:g.44560437C>T	ENSP00000331302:p.Gly400Glu					KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	p.G400E	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN			1	1551	-			400					Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.1199G>A	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	C	6.634	0.485375	0.12641	.	.	ENSG00000206181	ENST00000332567	T	0.06068	3.35	2.19	-0.409	0.12378	.	0.983616	0.08203	U	0.981964	T	0.02533	0.0077	N	0.08118	0	0.09310	N	1	P	0.39250	0.665	B	0.29598	0.104	T	0.46498	-0.9187	10	0.22706	T	0.39	.	6.8852	0.24195	0.4157:0.5843:0.0:0.0	.	400	Q8IYF1	ELOA2_HUMAN	E	400	ENSP00000331302:G400E	ENSP00000331302:G400E	G	-	2	0	TCEB3B	42814435	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.194000	0.09559	-0.070000	0.12908	-0.388000	0.06559	GGA		0.478	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		50	164	0	0	0	0.870114	0	50	164					T	44560437	C	T	44560437	3	4	3	1	0	0	0	0	1	0	0	0	15679	855	30	2	1066	2	TCEB3B	18	44560437	Missense_Mutation	SNP	C	TCGA-BJ-A0Z0-01A-11D-A10S-08		44560437	33516811	31	138											
ZNF565	147929	broad.mit.edu	37	chr19	36674128	36674128	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tacattcataaggtttgacaCcagtatgaagtctctgatgt	8	7	2	3			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr19:36674128C>G	ENST00000355114.5	-	5	1586	c.860G>C	c.(859-861)gGt>gCt	p.G287A	ZNF565_ENST00000392173.2_Missense_Mutation_p.G247A|ZNF565_ENST00000304116.5_Missense_Mutation_p.G247A			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	287					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			AGGTTTGACACCAGTATGAAG	0.438																																						ENST00000355114.5																			0				large_intestine(4)|lung(4)|ovary(1)|skin(2)	11						c.(859-861)gGt>gCt		zinc finger protein 565							82	76	78					19																	36674128		2203	4300	6503	SO:0001583	missense	147929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36674128C>G	AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"Zinc fingers, C2H2-type", "-"	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.860G>C	19.37:g.36674128C>G	ENSP00000347234:p.Gly287Ala					ZNF565_ENST00000392173.2_Missense_Mutation_p.G247A|ZNF565_ENST00000304116.5_Missense_Mutation_p.G247A	p.G287A			Q8N9K5	ZN565_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.206)		5	1586	-	Esophageal squamous(110;0.162)		247					B3KQ35|Q6NUS2	Missense_Mutation	SNP	ENST00000355114.5	37	c.860G>C		.	.	.	.	.	.	.	.	.	.	c	15.78	2.935423	0.52866	.	.	ENSG00000196357	ENST00000392173;ENST00000304116;ENST00000355114	T;T;T	0.26373	1.74;1.74;1.74	4.36	4.36	0.52297	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40818	N	0.001003	T	0.41743	0.1172	M	0.71581	2.175	0.40656	D	0.982089	D	0.57899	0.981	P	0.53102	0.718	T	0.48490	-0.9031	10	0.87932	D	0	.	14.8205	0.70068	0.0:1.0:0.0:0.0	.	247	Q8N9K5	ZN565_HUMAN	A	247;247;287	ENSP00000376013:G247A;ENSP00000306869:G247A;ENSP00000347234:G287A	ENSP00000306869:G247A	G	-	2	0	ZNF565	41365968	0.711000	0.27906	1.000000	0.80357	0.064000	0.16182	3.246000	0.51414	2.437000	0.82529	0.585000	0.79938	GGT		0.438	ZNF565-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000451697.1	NM_152477		10	111	0	0	0	0.361761	0	10	111					G	36674128	C	G	36674128	3	3	3	1	0	0	0	0	1	0	0	0	17993	507	18	4	763	4	ZNF565	19	36674128	Missense_Mutation	SNP	C	TCGA-BJ-A0Z0-01A-11D-A10S-08		36674128	22454855	32	139											
FCGBP	8857	broad.mit.edu	37	chr19	40366101	40366101	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgccacgtaggtagccacTgcaggacagaggcctccagg	14	13	0	1			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr19:40366101T>C	ENST00000221347.6	-	30	14140	c.14133A>G	c.(14131-14133)gcA>gcG	p.A4711A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4711						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGGTAGCCACTGCAGGACAGA	0.672																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(14131-14133)gcA>gcG		Fc fragment of IgG binding protein							34	42	39					19																	40366101		2201	4297	6498	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40366101T>C	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.14133A>G	19.37:g.40366101T>C							p.A4711A	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		30	14140	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4711					O95784	Silent	SNP	ENST00000221347.6	37	c.14133A>G	CCDS12546.1																																																																																				0.672	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		22	33	0	0	0	0.639603	0	22	33					C	40366101	T	C	40366101	2	2	3	1	0	0	0	0	0	0	0	1	5778	1567	55	3		3	FCGBP	19	40366101	Silent	SNP	T	TCGA-BJ-A0Z0-01A-11D-A10S-08	3691973	40366101	18762882	33	140											
PPP2R1A	5518	broad.mit.edu	37	chr19	52719096	52719096	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccctgccttccagaacctgaTgaaagactgtgaggccgagg	12	12	0	5			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr19:52719096T>A	ENST00000322088.6	+	7	930	c.872T>A	c.(871-873)aTg>aAg	p.M291K	PPP2R1A_ENST00000462990.1_Missense_Mutation_p.M112K|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.M236K	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	291	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		cagaacCTGATGAAAGACTGT	0.612			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"protein phosphatase 2, regulatory subunit A, alpha"			E			clear cell ovarian carcinoma		0				NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(871-873)aTg>aAg		protein phosphatase 2, regulatory subunit A, alpha							67	63	65					19																	52719096		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52719096T>A		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9302	protein-coding gene	gene with protein product	"protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A"	605983	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.872T>A	19.37:g.52719096T>A	ENSP00000324804:p.Met291Lys					PPP2R1A_ENST00000462990.1_Missense_Mutation_p.M112K|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.M236K	p.M291K	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	7	930	+			291			PP2A subunit B binding.|Polyoma small and medium T antigens Binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.872T>A	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.589151	0.86851	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.06528	3.29;3.29	4.67	4.67	0.58626	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.08582	0.0213	L	0.39898	1.24	0.51012	D	0.9999	D;P;P	0.54047	0.964;0.879;0.879	P;B;B	0.45474	0.482;0.329;0.329	T	0.05500	-1.0881	10	0.87932	D	0	-35.5917	12.4296	0.55567	0.0:0.0:0.0:1.0	.	236;291;291	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	K	281;211;291;236	ENSP00000324804:M291K;ENSP00000415067:M236K	ENSP00000324804:M291K	M	+	2	0	PPP2R1A	57410908	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.085000	0.76875	2.099000	0.63709	0.533000	0.62120	ATG		0.612	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		4	137	0	0	0	0.150653	0	4	137					A	52719096	T	A	52719096	3	1	3	1	0	0	0	0	1	0	0	0	12382	1464	51	5	898	5	PPP2R1A	19	52719096	Missense_Mutation	SNP	T	TCGA-BJ-A0Z0-01A-11D-A10S-08	12352995	52719096	6409887	34	141											
NCAPH2	29781	broad.mit.edu	37	chr22	50961303	50961303	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggagacagagctgagccaGcgcatcagggactgggagga	17	9	1	3			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr22:50961303G>T	ENST00000420993.2	+	18	1601	c.1479G>T	c.(1477-1479)caG>caT	p.Q493H	CTA-384D8.36_ENST00000608319.1_RNA|NCAPH2_ENST00000395701.3_Missense_Mutation_p.Q493H|NCAPH2_ENST00000299821.11_Missense_Mutation_p.Q494H	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	493					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|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)		BRCA - Breast invasive adenocarcinoma(115;0.212)		AGCTGAGCCAGCGCATCAGGG	0.647																																						ENST00000395701.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24						c.(1477-1479)caG>caT		non-SMC condensin II complex, subunit H2							38	37	37					22																	50961303		2203	4300	6503	SO:0001583	missense	29781				chromosome condensation	chromosome|nucleus		g.chr22:50961303G>T	BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"kleisin beta", "CAP-H2 subunit of the condensin II complex"	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.1479G>T	22.37:g.50961303G>T	ENSP00000410088:p.Gln493His					NCAPH2_ENST00000299821.11_Missense_Mutation_p.Q494H|NCAPH2_ENST00000420993.2_Missense_Mutation_p.Q493H	p.Q493H			Q6IBW4	CNDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.212)	18	1573	+		all_cancers(38;4.58e-14)|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)	493					B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Missense_Mutation	SNP	ENST00000420993.2	37	c.1479G>T	CCDS14094.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.19|18.19	3.568564|3.568564	0.65651|0.65651	.|.	.|.	ENSG00000025770|ENSG00000025770	ENST00000420993;ENST00000395701;ENST00000299821|ENST00000522304	.|.	.|.	.|.	5.24|5.24	3.1|3.1	0.35709|0.35709	.|.	0.381600|.	0.27198|.	N|.	0.020480|.	T|T	0.56572|0.56572	0.1994|0.1994	M|M	0.73598|0.73598	2.24|2.24	0.26950|0.26950	N|N	0.96605|0.96605	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;D;D|.	0.87578|.	0.997;0.997;0.998|.	T|T	0.49312|0.49312	-0.8953|-0.8953	9|5	0.52906|.	T|.	0.07|.	-20.0179|-20.0179	10.8482|10.8482	0.46754|0.46754	0.1577:0.0:0.8423:0.0|0.1577:0.0:0.8423:0.0	.|.	494;471;493|.	Q6IBW4-4;Q6IBW4-2;Q6IBW4|.	.;.;CNDH2_HUMAN|.	H|I	493;493;494|50	.|.	ENSP00000299821:Q494H|.	Q|S	+|+	3|2	2|0	NCAPH2|NCAPH2	49308169|49308169	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	0.803000|0.803000	0.27083|0.27083	0.576000|0.576000	0.29452|0.29452	0.650000|0.650000	0.86243|0.86243	CAG|AGC		0.647	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317012.1	NM_152299		5	59	1	0	5.9392e-07	0.217242	6.20916e-07	5	59					T	50961303	G	T	50961303	3	4	3	1	0	0	0	0	1	0	0	0	10210	962	34	4	1591	4	NCAPH2	22	50961303	Missense_Mutation	SNP	G	TCGA-BJ-A0Z0-01A-11D-A10S-08		50961303	343263	35	142											
UBR4	23352	broad.mit.edu	37	chr1	19420477	19420477	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtatggtttgaatcgctccaCcaagatctgcattttctcca	7	11	2	2			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr1:19420477C>A	ENST00000375254.3	-	95	13930	c.13903G>T	c.(13903-13905)Gtg>Ttg	p.V4635L	UBR4_ENST00000429347.2_Missense_Mutation_p.V158L|UBR4_ENST00000467272.2_5'UTR|UBR4_ENST00000543981.1_Missense_Mutation_p.V299L|UBR4_ENST00000375226.2_Missense_Mutation_p.V4611L|UBR4_ENST00000375267.2_Missense_Mutation_p.V4635L|UBR4_ENST00000375217.2_Missense_Mutation_p.V4628L|UBR4_ENST00000375224.1_Missense_Mutation_p.V342L	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4635					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AATCGCTCCACCAAGATCTGC	0.463																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(13903-13905)Gtg>Ttg		ubiquitin protein ligase E3 component n-recognin 4							92	84	87					1																	19420477		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19420477C>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.13903G>T	1.37:g.19420477C>A	ENSP00000364403:p.Val4635Leu					UBR4_ENST00000429347.2_Missense_Mutation_p.V158L|UBR4_ENST00000375224.1_Missense_Mutation_p.V342L|UBR4_ENST00000467272.2_5'UTR|UBR4_ENST00000375217.2_Missense_Mutation_p.V4628L|UBR4_ENST00000375226.2_Missense_Mutation_p.V4611L|UBR4_ENST00000543981.1_Missense_Mutation_p.V299L|UBR4_ENST00000375254.3_Missense_Mutation_p.V4635L	p.V4635L			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	95	13906	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	4635					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.13903G>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092940	0.76756	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375224;ENST00000429347;ENST00000543981	T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;1.18;1.18;1.18	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.78027	0.4219	M	0.64170	1.965	0.80722	D	1	P;P;P;P	0.49185	0.92;0.92;0.92;0.902	D;D;D;P	0.68192	0.935;0.935;0.956;0.893	T	0.76995	-0.2752	10	0.56958	D	0.05	.	18.7785	0.91922	0.0:1.0:0.0:0.0	.	299;158;4635;4611	B4DYV5;B4DPF6;Q5T4S7;Q5T4S7-3	.;.;UBR4_HUMAN;.	L	4635;4635;4628;4611;342;158;299	ENSP00000364403:V4635L;ENSP00000364416:V4635L;ENSP00000364365:V4628L;ENSP00000364374:V4611L;ENSP00000364372:V342L;ENSP00000394173:V158L;ENSP00000444070:V299L	ENSP00000364365:V4628L	V	-	1	0	UBR4	19293064	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.267000	0.78462	2.785000	0.95823	0.591000	0.81541	GTG		0.463	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		17	26	1	0	4.75885e-15	0.0333	5.39336e-15	17	26					A	19420477	C	A	19420477	3	1	4	1	0	0	0	0	1	0	0	0	16901	507	18	4	1696	4	UBR4	1	19420477	Missense_Mutation	SNP	C	TCGA-BJ-A0Z2-01A-11D-A10S-08		19420477	229830144	1	143											
NLRP3	114548	broad.mit.edu	37	chr1	247586597	247586597	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagacagcattgaagaggagTggatgggtttactggagtac	15	4	0	3			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr1:247586597T>C	ENST00000336119.3	+	2	1095	c.349T>C	c.(349-351)Tgg>Cgg	p.W117R	NLRP3_ENST00000348069.2_Missense_Mutation_p.W117R|NLRP3_ENST00000366497.2_Missense_Mutation_p.W117R|NLRP3_ENST00000391828.3_Missense_Mutation_p.W117R|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.W117R|NLRP3_ENST00000391827.2_Missense_Mutation_p.W117R	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	117					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGAAGAGGAGTGGATGGGTTT	0.423																																						ENST00000366497.2																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(349-351)Tgg>Cgg		NLR family, pyrin domain containing 3							206	204	205					1																	247586597		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247586597T>C	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.349T>C	1.37:g.247586597T>C	ENSP00000337383:p.Trp117Arg					NLRP3_ENST00000366496.2_Missense_Mutation_p.W117R|NLRP3_ENST00000336119.3_Missense_Mutation_p.W117R|NLRP3_ENST00000348069.2_Missense_Mutation_p.W117R|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.W117R|NLRP3_ENST00000391827.2_Missense_Mutation_p.W117R	p.W117R	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		3	1129	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	117					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.349T>C	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	T	1.794	-0.478754	0.04414	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.73363	-0.65;-0.67;-0.65;-0.74;-0.67;-0.7	4.1	1.73	0.24493	.	0.165674	0.29486	N	0.012013	T	0.58524	0.2128	L	0.47716	1.5	0.30783	N	0.741742	B;B;B;B;B	0.15141	0.0;0.0;0.001;0.012;0.003	B;B;B;B;B	0.12156	0.0;0.0;0.007;0.007;0.001	T	0.44574	-0.9319	10	0.15952	T	0.53	.	3.5439	0.07821	0.1937:0.106:0.0:0.7003	.	117;117;117;117;117	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	R	117	ENSP00000375704:W117R;ENSP00000355453:W117R;ENSP00000337383:W117R;ENSP00000294752:W117R;ENSP00000355452:W117R;ENSP00000375703:W117R	ENSP00000337383:W117R	W	+	1	0	NLRP3	245653220	1.000000	0.71417	0.967000	0.41034	0.093000	0.18481	1.255000	0.32909	0.362000	0.24319	-0.250000	0.11733	TGG		0.423	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		94	108	0	0	0	0.048971	0	94	108					C	247586597	T	C	247586597	3	2	4	1	0	0	0	0	1	0	0	0	10478	1696	59	3	355	3	NLRP3	1	247586597	Missense_Mutation	SNP	T	TCGA-BJ-A0Z2-01A-11D-A10S-08	228166120	247586597	1664024	2	144											
SNRNP27	11017	broad.mit.edu	37	chr2	70121125	70121125	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgggactccaaatgggtcgCagtcgcagccgctctccacg	13	15	1	0			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr2:70121125C>T	ENST00000244227.3	+	1	434	c.9C>T	c.(7-9)cgC>cgT	p.R3R	SNRNP27_ENST00000409116.1_Silent_p.R3R	NM_006857.2	NP_006848.1	Q8WVK2	SNR27_HUMAN	small nuclear ribonucleoprotein 27kDa (U4/U6.U5)	3	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						AAATGGGTCGCAGTCGCAGCC	0.542																																						ENST00000244227.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(7-9)cgC>cgT		small nuclear ribonucleoprotein 27kDa (U4/U6.U5)							49	53	52					2																	70121125		2203	4300	6503	SO:0001819	synonymous_variant	11017				mRNA processing|RNA splicing	nucleus	nucleic acid binding	g.chr2:70121125C>T	X76302	CCDS33219.1	2p14	2011-10-11			ENSG00000124380	ENSG00000124380			30240	protein-coding gene	gene with protein product	"nucleic acid binding protein RY 1"					7931148	Standard	NM_006857		Approved	RY1	uc002sfw.3	Q8WVK2	OTTHUMG00000152689	ENST00000244227.3:c.9C>T	2.37:g.70121125C>T						SNRNP27_ENST00000409116.1_Silent_p.R3R	p.R3R	NM_006857.2	NP_006848.1	Q8WVK2	SNR27_HUMAN			1	434	+			3			Arg-rich.		Q15410	Silent	SNP	ENST00000244227.3	37	c.9C>T	CCDS33219.1																																																																																				0.542	SNRNP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327369.1	NM_006857		35	35	0	0	0	0.086207	0	35	35					T	70121125	C	T	70121125	2	4	4	1	0	0	0	0	0	0	0	1	14854	697	25	2		2	SNRNP27	2	70121125	Silent	SNP	C	TCGA-BJ-A0Z2-01A-11D-A10S-08		70121125	173078248	3	145											
STK10	6793	broad.mit.edu	37	chr5	171517329	171517329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccatccaccacaaatttgCgtgtccgcttgagggttttt	8	12	0	1			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr5:171517329C>T	ENST00000176763.5	-	10	1935	c.1592G>A	c.(1591-1593)cGc>cAc	p.R531H	STK10_ENST00000517775.1_5'Flank	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	531					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)	p.R531H(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CACAAATTTGCGTGTCCGCTT	0.502																																						ENST00000176763.5																			1	Substitution - Missense(1)	p.R531H(1)	kidney(1)	breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(1591-1593)cGc>cAc		serine/threonine kinase 10							249	227	235					5																	171517329		2203	4300	6503	SO:0001583	missense	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171517329C>T	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.1592G>A	5.37:g.171517329C>T	ENSP00000176763:p.Arg531His						p.R531H	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		10	1935	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	531					A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	c.1592G>A	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.749574	0.89753	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	D	0.82619	-1.63	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	D	0.91499	0.7316	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92997	0.6420	10	0.87932	D	0	.	14.9322	0.70923	0.0:1.0:0.0:0.0	.	531	O94804	STK10_HUMAN	H	531	ENSP00000176763:R531H	ENSP00000176763:R531H	R	-	2	0	STK10	171449934	0.999000	0.42202	0.993000	0.49108	0.911000	0.54048	7.770000	0.85390	2.122000	0.65172	0.455000	0.32223	CGC		0.502	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		5	324	0	0	0	0.02938	0	5	324					T	171517329	C	T	171517329	3	4	4	1	0	0	0	0	1	0	0	0	15285	768	27	1	1354	1	STK10	5	171517329	Missense_Mutation	SNP	C	TCGA-BJ-A0Z2-01A-11D-A10S-08		171517329	9397931	4	146											
SLC44A4	80736	broad.mit.edu	37	chr6	31842511	31842511	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattcaccatattccagggtAcccctggcagacaaaagttc	7	12	1	1			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr6:31842511A>G	ENST00000229729.6	-	6	475	c.455T>C	c.(454-456)gTa>gCa	p.V152A	SLC44A4_ENST00000465707.1_5'UTR|SLC44A4_ENST00000544672.1_Missense_Mutation_p.V76A|SLC44A4_ENST00000375562.4_Intron	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	152					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	ATTCCAGGGTACCCCTGGCAG	0.532																																						ENST00000544672.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35						c.(226-228)gTa>gCa		solute carrier family 44, member 4	Choline(DB00122)						76	70	72					6																	31842511		2203	4300	6503	SO:0001583	missense	80736					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr6:31842511A>G	AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"Solute carriers"	13941	protein-coding gene	gene with protein product		606107	"chromosome 6 open reading frame 29"	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.455T>C	6.37:g.31842511A>G	ENSP00000229729:p.Val152Ala					SLC44A4_ENST00000465707.1_5'UTR|SLC44A4_ENST00000375562.4_Intron|SLC44A4_ENST00000229729.6_Missense_Mutation_p.V152A	p.V76A	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN			6	523	-			152					A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Missense_Mutation	SNP	ENST00000229729.6	37	c.227T>C	CCDS4724.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.9|21.9	4.221757|4.221757	0.79464|0.79464	.|.	.|.	ENSG00000204385|ENSG00000204385	ENST00000229729;ENST00000544672|ENST00000414427	T;T|.	0.23147|.	1.92;1.92|.	4.9|4.9	3.71|3.71	0.42584|0.42584	.|.	0.272859|.	0.30969|.	N|.	0.008507|.	T|T	0.28200|0.28200	0.0696|0.0696	L|L	0.48642|0.48642	1.525|1.525	0.29831|0.29831	N|N	0.829989|0.829989	P|.	0.34587|.	0.458|.	B|.	0.39904|.	0.313|.	T|T	0.12426|0.12426	-1.0548|-1.0548	10|5	0.16420|.	T|.	0.52|.	-13.8064|-13.8064	8.7616|8.7616	0.34678|0.34678	0.8085:0.1915:0.0:0.0|0.8085:0.1915:0.0:0.0	.|.	152|.	Q53GD3|.	CTL4_HUMAN|.	A|H	152;76|148	ENSP00000229729:V152A;ENSP00000444109:V76A|.	ENSP00000229729:V152A|.	V|Y	-|-	2|1	0|0	SLC44A4|SLC44A4	31950490|31950490	0.531000|0.531000	0.26338|0.26338	0.724000|0.724000	0.30704|0.30704	0.952000|0.952000	0.60782|0.60782	3.864000|3.864000	0.56024|0.56024	0.980000|0.980000	0.38523|0.38523	0.533000|0.533000	0.62120|0.62120	GTA|TAC		0.532	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3			3	133	0	0	0	0.009096	0	3	133					G	31842511	A	G	31842511	3	3	4	1	0	0	0	0	1	0	0	0	14638	391	14	3	1741	3	SLC44A4	6	31842511	Missense_Mutation	SNP	A	TCGA-BJ-A0Z2-01A-11D-A10S-08		31842511	139272556	5	147											
OSBPL3	26031	broad.mit.edu	37	chr7	24901333	24901333	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cttctccaaaatctagtgttGacaaattaggattggaggag	10	6	2	1			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr7:24901333G>C	ENST00000313367.2	-	10	1377	c.926C>G	c.(925-927)tCa>tGa	p.S309*	OSBPL3_ENST00000396431.1_Nonsense_Mutation_p.S278*|OSBPL3_ENST00000396429.1_Nonsense_Mutation_p.S309*|OSBPL3_ENST00000352860.1_Nonsense_Mutation_p.S278*|OSBPL3_ENST00000409069.1_Nonsense_Mutation_p.S278*|OSBPL3_ENST00000431825.2_Nonsense_Mutation_p.S278*|OSBPL3_ENST00000353930.1_Nonsense_Mutation_p.S309*	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	309					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						ATCTAGTGTTGACAAATTAGG	0.383																																						ENST00000313367.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.(925-927)tCa>tGa		oxysterol binding protein-like 3							92	99	97					7																	24901333		2203	4300	6503	SO:0001587	stop_gained	26031				lipid transport		lipid binding|protein binding	g.chr7:24901333G>C	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.926C>G	7.37:g.24901333G>C	ENSP00000315410:p.Ser309*					OSBPL3_ENST00000431825.2_Nonsense_Mutation_p.S278*|OSBPL3_ENST00000396431.1_Nonsense_Mutation_p.S278*|OSBPL3_ENST00000352860.1_Nonsense_Mutation_p.S278*|OSBPL3_ENST00000353930.1_Nonsense_Mutation_p.S309*|OSBPL3_ENST00000409069.1_Nonsense_Mutation_p.S278*|OSBPL3_ENST00000396429.1_Nonsense_Mutation_p.S309*	p.S309*	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN			10	1377	-			309					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Nonsense_Mutation	SNP	ENST00000313367.2	37	c.926C>G	CCDS5390.1	.	.	.	.	.	.	.	.	.	.	G	42	9.275680	0.99122	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	.	.	.	5.52	5.52	0.82312	.	0.119651	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-8.5152	19.8046	0.96525	0.0:0.0:1.0:0.0	.	.	.	.	X	309;278;309;278;278;309;278	.	ENSP00000315410:S309X	S	-	2	0	OSBPL3	24867858	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	6.678000	0.74508	2.748000	0.94277	0.655000	0.94253	TCA		0.383	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			3	145	0	0	0	0.004672	0	3	145					C	24901333	G	C	24901333	4	2	4	1	0	0	0	0	0	1	0	0	11279	1294	45	4	1793	4	OSBPL3	7	24901333	Nonsense_Mutation	SNP	G	TCGA-BJ-A0Z2-01A-11D-A10S-08		24901333	134237330	6	148											
CACNA2D1	781	broad.mit.edu	37	chr7	81594935	81594935	+	Missense_Mutation	SNP	G	G	T													tagtataatcatcatgatttGccatcagaagaaacccacca							TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr7:81594935G>T	ENST00000356253.5	-	32	2840	c.2585C>A	c.(2584-2586)gCa>gAa	p.A862E	CACNA2D1_ENST00000535308.1_Missense_Mutation_p.A62E|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.A850E			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	862					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	ATCATGATTTGCCATCAGAAG	0.368																																						ENST00000356860.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2548-2550)gCa>gAa		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						151	136	141					7																	81594935		2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81594935G>T	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2585C>A	7.37:g.81594935G>T	ENSP00000348589:p.Ala862Glu					CACNA2D1_ENST00000356253.5_Missense_Mutation_p.A862E|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.A62E	p.A850E	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			32	2887	-			862					Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.2549C>A		.	.	.	.	.	.	.	.	.	.	G	18.50	3.636931	0.67130	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	T;T;T	0.73152	-0.72;-0.72;-0.72	5.18	5.18	0.71444	.	0.057555	0.64402	D	0.000001	T	0.61451	0.2348	N	0.22421	0.69	0.45284	D	0.998281	B;B	0.14012	0.009;0.001	B;B	0.16289	0.015;0.008	T	0.59685	-0.7408	10	0.87932	D	0	-12.2631	18.672	0.91514	0.0:0.0:1.0:0.0	.	62;850	B7Z658;P54289-2	.;.	E	850;869;862;62	ENSP00000349320:A850E;ENSP00000348589:A862E;ENSP00000443124:A62E	ENSP00000284088:A869E	A	-	2	0	CACNA2D1	81432871	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.366000	0.79548	2.407000	0.81776	0.591000	0.81541	GCA		0.368	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				46	80	1	0	7.05377e-20	0.048971	8.3661e-20	46	80					T	81594935	G	T	81594935	3	4	4	1	0	0	0	0	1	0	0	0	2548	1319	46	4	758	4	CACNA2D1	7	81594935	Missense_Mutation	SNP	G	TCGA-BJ-A0Z2-01A-11D-A10S-08	56693602	81594935	77543728	7	149	2	2									
CACNA2D1	781	broad.mit.edu	37	chr7	81594936	81594936	+	Missense_Mutation	SNP	C	C	T													agtataatcatcatgatttgCcatcagaagaaacccaccat							TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr7:81594936C>T	ENST00000356253.5	-	32	2839	c.2584G>A	c.(2584-2586)Gca>Aca	p.A862T	CACNA2D1_ENST00000535308.1_Missense_Mutation_p.A62T|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.A850T			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	862					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TCATGATTTGCCATCAGAAGA	0.368																																						ENST00000356860.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2548-2550)Gca>Aca		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						153	137	143					7																	81594936		2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81594936C>T	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2584G>A	7.37:g.81594936C>T	ENSP00000348589:p.Ala862Thr					CACNA2D1_ENST00000356253.5_Missense_Mutation_p.A862T|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.A62T	p.A850T	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			32	2886	-			862					Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.2548G>A		.	.	.	.	.	.	.	.	.	.	C	16.16	3.043804	0.55003	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	T;T;T	0.72725	-0.68;-0.68;-0.68	5.18	3.14	0.36123	.	0.057555	0.64402	D	0.000001	T	0.53270	0.1786	N	0.14661	0.345	0.37284	D	0.907949	B;B	0.18166	0.026;0.004	B;B	0.20184	0.028;0.015	T	0.58284	-0.7663	10	0.87932	D	0	-12.2631	11.5312	0.50612	0.6155:0.3845:0.0:0.0	.	62;850	B7Z658;P54289-2	.;.	T	850;869;862;62	ENSP00000349320:A850T;ENSP00000348589:A862T;ENSP00000443124:A62T	ENSP00000284088:A869T	A	-	1	0	CACNA2D1	81432872	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.008000	0.63991	1.149000	0.42402	0.591000	0.81541	GCA		0.368	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				46	78	0	0	0	0.048971	0	46	78					T	81594936	C	T	81594936	3	4	4	1	0	0	0	0	1	0	0	0	2548	739	26	2	759	2	CACNA2D1	7	81594936	Missense_Mutation	SNP	C	TCGA-BJ-A0Z2-01A-11D-A10S-08	1	81594936	77543727	8	150	2	2									
SRRT	51593	broad.mit.edu	37	chr7	100473251	100473274	+	In_Frame_Del	DEL	GACAAGTTCAGAAGAGAGCGCAGC	GACAAGTTCAGAAGAGAGCGCAGC	-													agtacgatcgaaggcgcaggGacaagttcagaagagagcgc							TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr7:100473251_100473274delGACAAGTTCAGAAGAGAGCGCAGC	ENST00000347433.4	+	2	198_221	c.40_63delGACAAGTTCAGAAGAGAGCGCAGC	c.(40-63)gacaagttcagaagagagcgcagcdel	p.DKFRRERS14del	SRRT_ENST00000457580.2_In_Frame_Del_p.DKFRRERS14del|SRRT_ENST00000388793.4_In_Frame_Del_p.DKFRRERS14del|SRRT_ENST00000432932.1_In_Frame_Del_p.DKFRRERS14del			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	14	Arg-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AAGGCGCAGGGACAAGTTCAGAAGAGAGCGCAGCGACTACGACC	0.58																																						ENST00000388793.4																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(40-63)del		serrate RNA effector molecule homolog (Arabidopsis)																																				SO:0001651	inframe_deletion	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100473251_100473274delGACAAGTTCAGAAGAGAGCGCAGC		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"arsenite resistance protein"	614469	"serrate RNA effector molecule homolog (Arabidopsis)"			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.40_63delGACAAGTTCAGAAGAGAGCGCAGC	7.37:g.100473251_100473274delGACAAGTTCAGAAGAGAGCGCAGC	ENSP00000314491:p.Asp14_Ser21del					SRRT_ENST00000432932.1_In_Frame_Del_p.DKFRRERS14del|SRRT_ENST00000457580.2_In_Frame_Del_p.DKFRRERS14del|SRRT_ENST00000347433.4_In_Frame_Del_p.DKFRRERS14del	p.DKFRRERS14del	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN			2	260_283	+			14			Arg-rich.		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	In_Frame_Del	DEL	ENST00000347433.4	37	c.40_63delGACAAGTTCAGAAGAGAGCGCAGC	CCDS34709.1																																																																																				0.58	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		39	104						39	104	---	---	---	---	-	100473274	GACAAGTTCAGAAGAGAGCGCAGC	-	100473251	7	5	4	1	0	1	0	1	0	0	0	0	15171	1174	41	0	42	0	SRRT	7	100473251	In_Frame_Del	DEL	GACAAGTTCAGAAGAGAGCGCAGC	TCGA-BJ-A0Z2-01A-11D-A10S-08	18878315	100473251	58665412	9	151											
IRF5	3663	broad.mit.edu	37	chr7	128588864	128588864	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggcctatgcacccagctggcAtgcaataacaaggctgcaga	11	12	0	1			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr7:128588864A>T	ENST00000402030.2	+	9	1561	c.1489A>T	c.(1489-1491)Atg>Ttg	p.M497L	IRF5_ENST00000249375.4_Missense_Mutation_p.M497L|IRF5_ENST00000473745.1_Missense_Mutation_p.M497L|IRF5_ENST00000477535.1_Missense_Mutation_p.M411L|IRF5_ENST00000357234.5_Missense_Mutation_p.M513L	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	497					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						CCCAGCTGGCATGCAATAACA	0.657																																						ENST00000402030.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						c.(1489-1491)Atg>Ttg		interferon regulatory factor 5							36	39	38					7																	128588864		2203	4300	6503	SO:0001583	missense	3663				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:128588864A>T		CCDS5808.1, CCDS43645.1, CCDS56512.1	7q32	2008-07-18			ENSG00000128604	ENSG00000128604			6120	protein-coding gene	gene with protein product		607218					Standard	XM_005250317		Approved		uc003vog.3	Q13568	OTTHUMG00000158410	ENST00000402030.2:c.1489A>T	7.37:g.128588864A>T	ENSP00000385352:p.Met497Leu					IRF5_ENST00000477535.1_Missense_Mutation_p.M411L|IRF5_ENST00000357234.5_Missense_Mutation_p.M513L|IRF5_ENST00000473745.1_Missense_Mutation_p.M497L|IRF5_ENST00000249375.4_Missense_Mutation_p.M497L	p.M497L	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN			9	1561	+			497					A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Missense_Mutation	SNP	ENST00000402030.2	37	c.1489A>T	CCDS5808.1	.	.	.	.	.	.	.	.	.	.	A	12.95	2.090064	0.36855	.	.	ENSG00000128604	ENST00000357234;ENST00000477535;ENST00000402030;ENST00000249375;ENST00000473745;ENST00000412326	D;D;D;D;D	0.97138	-4.26;-4.23;-4.25;-4.25;-4.25	5.73	5.73	0.89815	.	0.963128	0.08515	N	0.934286	D	0.95965	0.8686	L	0.54323	1.7	0.36884	D	0.889568	B;B;B	0.26744	0.068;0.158;0.092	B;B;B	0.26202	0.031;0.046;0.067	D	0.91994	0.5605	10	0.87932	D	0	-20.7332	13.9759	0.64273	1.0:0.0:0.0:0.0	.	411;497;513	E7EW54;Q13568;Q13568-2	.;IRF5_HUMAN;.	L	513;411;497;497;497;487	ENSP00000349770:M513L;ENSP00000419950:M411L;ENSP00000385352:M497L;ENSP00000249375:M497L;ENSP00000419149:M497L	ENSP00000249375:M497L	M	+	1	0	IRF5	128376100	1.000000	0.71417	0.999000	0.59377	0.034000	0.12701	3.282000	0.51693	2.179000	0.69175	0.533000	0.62120	ATG		0.657	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350934.1	NM_001098627		44	46	0	0	0	0.048971	0	44	46					T	128588864	A	T	128588864	3	4	4	1	0	0	0	0	1	0	0	0	7833	217	8	5	1567	5	IRF5	7	128588864	Missense_Mutation	SNP	A	TCGA-BJ-A0Z2-01A-11D-A10S-08	28115613	128588864	30549799	10	152											
WEE2	494551	broad.mit.edu	37	chr7	141420816	141420816	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgttactattcctcatgggcAgaagatgaccacatgatcat	8	10	2	4			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr7:141420816A>T	ENST00000397541.2	+	5	1246	c.840A>T	c.(838-840)gcA>gcT	p.A280A	WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000486906.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	280	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CCTCATGGGCAGAAGATGACC	0.413																																						ENST00000397541.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.(838-840)gcA>gcT		WEE1 homolog 2 (S. pombe)							138	127	130					7																	141420816		1894	4120	6014	SO:0001819	synonymous_variant	494551				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr7:141420816A>T	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.840A>T	7.37:g.141420816A>T						WEE2-AS1_ENST00000488785.1_RNA	p.A280A	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN			5	1246	+	Melanoma(164;0.0171)		280			Protein kinase.			Silent	SNP	ENST00000397541.2	37	c.840A>T	CCDS43660.1																																																																																				0.413	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558		93	86	0	0	0	0.048971	0	93	86					T	141420816	A	T	141420816	2	4	4	1	0	0	0	0	0	0	0	1	17342	175	7	5		5	WEE2	7	141420816	Silent	SNP	A	TCGA-BJ-A0Z2-01A-11D-A10S-08	12831952	141420816	17717847	11	153											
PTK2B	2185	broad.mit.edu	37	chr8	27294958	27294958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacatcgtgaagctgatcgGcatcattgaagaggagccca	12	10	1	4			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr8:27294958G>A	ENST00000397501.1	+	22	2280	c.1472G>A	c.(1471-1473)gGc>gAc	p.G491D	PTK2B_ENST00000544172.1_Missense_Mutation_p.G491D|PTK2B_ENST00000338238.4_Missense_Mutation_p.G491D|PTK2B_ENST00000420218.2_Missense_Mutation_p.G491D|PTK2B_ENST00000517339.1_Missense_Mutation_p.G491D|PTK2B_ENST00000346049.5_Missense_Mutation_p.G491D|PTK2B_ENST00000397497.4_Missense_Mutation_p.G237D	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	491	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	AAGCTGATCGGCATCATTGAA	0.567																																						ENST00000397501.1																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(1471-1473)gGc>gAc		protein tyrosine kinase 2 beta							108	86	93					8																	27294958		2203	4300	6503	SO:0001583	missense	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27294958G>A	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"protein tyrosine kinase 2 beta", "PTK2B protein tyrosine kinase 2 beta"	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.1472G>A	8.37:g.27294958G>A	ENSP00000380638:p.Gly491Asp					PTK2B_ENST00000420218.2_Missense_Mutation_p.G491D|PTK2B_ENST00000346049.5_Missense_Mutation_p.G491D|PTK2B_ENST00000397497.4_Missense_Mutation_p.G237D|PTK2B_ENST00000517339.1_Missense_Mutation_p.G491D|PTK2B_ENST00000544172.1_Missense_Mutation_p.G491D|PTK2B_ENST00000338238.4_Missense_Mutation_p.G491D	p.G491D	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	22	2280	+		Ovarian(32;2.72e-05)	491			Protein kinase.		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Missense_Mutation	SNP	ENST00000397501.1	37	c.1472G>A	CCDS6057.1	.	.	.	.	.	.	.	.	.	.	G	34	5.295624	0.95574	.	.	ENSG00000120899	ENST00000397501;ENST00000539100;ENST00000338238;ENST00000544172;ENST00000346049;ENST00000420218;ENST00000517339;ENST00000397497	D;D;D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47	5.75	5.75	0.90469	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95249	0.8459	M	0.87180	2.865	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.97110	1.0;0.998;0.988	D	0.95587	0.8651	10	0.87932	D	0	.	17.43	0.87537	0.0:0.0:1.0:0.0	.	237;491;491	E9PBI4;Q14289-2;Q14289	.;.;FAK2_HUMAN	D	491;496;491;491;491;491;491;237	ENSP00000380638:G491D;ENSP00000342242:G491D;ENSP00000440926:G491D;ENSP00000332816:G491D;ENSP00000391995:G491D;ENSP00000427931:G491D;ENSP00000380634:G237D	ENSP00000342242:G491D	G	+	2	0	PTK2B	27350875	1.000000	0.71417	0.999000	0.59377	0.908000	0.53690	6.644000	0.74338	2.720000	0.93068	0.561000	0.74099	GGC		0.567	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		49	66	0	0	0	0.048971	0	49	66					A	27294958	G	A	27294958	3	1	4	1	0	0	0	0	1	0	0	0	12763	1203	42	2	1534	2	PTK2B	8	27294958	Missense_Mutation	SNP	G	TCGA-BJ-A0Z2-01A-11D-A10S-08		27294958	119069064	12	154											
HRCT1	646962	broad.mit.edu	37	chr9	35906344	35906344	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcacaggtgctgctgtggcGgtcctgctgctgctgctgct	14	12	1	0	rs374590028		TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr9:35906344G>A	ENST00000354323.2	+	1	156	c.60G>A	c.(58-60)gcG>gcA	p.A20A		NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	20						integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						CTGCTGTGGCGGTCctgctgc	0.657																																						ENST00000354323.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						c.(58-60)gcG>gcA		histidine rich carboxyl terminus 1		G		0,4396		0,0,2198	21	25	24		60	-8.3	0.0	9		24	1,8597		0,1,4298	no	coding-synonymous	HRCT1	NM_001039792.1		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		20/116	35906344	1,12993	2198	4299	6497	SO:0001819	synonymous_variant	646962					integral to membrane		g.chr9:35906344G>A		CCDS35012.1	9p13.3	2008-09-30			ENSG00000196196	ENSG00000196196			33872	protein-coding gene	gene with protein product						12975309	Standard	NM_001039792		Approved	LGLL338, PRO537, UNQ338	uc003zyr.1	Q6UXD1	OTTHUMG00000154146	ENST00000354323.2:c.60G>A	9.37:g.35906344G>A							p.A20A	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN			1	156	+			20					B7ZBJ1	Silent	SNP	ENST00000354323.2	37	c.60G>A	CCDS35012.1																																																																																				0.657	HRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334099.1	NM_001039792		3	16	0	0	0	0.004672	0	3	16					A	35906344	G	A	35906344	2	1	4	1	0	0	0	0	0	0	0	1	7353	1103	39	1		1	HRCT1	9	35906344	Silent	SNP	G	TCGA-BJ-A0Z2-01A-11D-A10S-08		35906344	105307087	13	155											
PAX5	5079	broad.mit.edu	37	chr9	36923382	36923382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtaggactgcgggcctgGcacactgctcccgatgtcag	16	12	1	0			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr9:36923382G>A	ENST00000358127.4	-	7	954	c.880C>T	c.(880-882)Cca>Tca	p.P294S	PAX5_ENST00000446742.1_Missense_Mutation_p.P228S|PAX5_ENST00000520281.1_Missense_Mutation_p.P251S|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000377852.2_Missense_Mutation_p.P294S|PAX5_ENST00000377853.2_Missense_Mutation_p.P294S|PAX5_ENST00000522003.1_Missense_Mutation_p.P186S|PAX5_ENST00000414447.1_Missense_Mutation_p.P251S|PAX5_ENST00000523145.1_Missense_Mutation_p.P186S|PAX5_ENST00000377847.2_Missense_Mutation_p.P294S	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	294					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.?(23)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		TGCGGGCCTGGCACACTGCTC	0.622			"T, Mis, D, F, S"	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"	"NHL, ALL, B-ALL"																																	ENST00000358127.4				Dom	yes		9	9p13	5079	"T, Mis, D, F, S"	paired box gene 5 (B-cell lineage specific activator protein)			L	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"		"NHL, ALL, B-ALL"	PAX5/JAK2(18)	23	Unknown(23)	p.?(23)	haematopoietic_and_lymphoid_tissue(23)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171						c.(880-882)Cca>Tca		paired box 5							56	60	59					9																	36923382		2203	4300	6503	SO:0001583	missense	5079				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr9:36923382G>A		CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"Paired boxes", "Homeoboxes / PRD class"	8619	protein-coding gene	gene with protein product	"B-cell lineage specific activator"	167414	"paired box gene 5 (B-cell lineage specific activator protein)", "paired box gene 5 (B-cell lineage specific activator)"			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.880C>T	9.37:g.36923382G>A	ENSP00000350844:p.Pro294Ser					PAX5_ENST00000377847.2_Missense_Mutation_p.P294S|PAX5_ENST00000377852.2_Missense_Mutation_p.P294S|PAX5_ENST00000377853.2_Missense_Mutation_p.P294S|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000523145.1_Missense_Mutation_p.P186S|PAX5_ENST00000522003.1_Missense_Mutation_p.P186S|PAX5_ENST00000414447.1_Missense_Mutation_p.P251S|PAX5_ENST00000520281.1_Missense_Mutation_p.P251S|PAX5_ENST00000446742.1_Missense_Mutation_p.P228S|PAX5_ENST00000520154.1_Intron	p.P294S	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN		GBM - Glioblastoma multiforme(29;0.0108)	7	954	-		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)	294					A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Missense_Mutation	SNP	ENST00000358127.4	37	c.880C>T	CCDS6607.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.493717	0.26774	.	.	ENSG00000196092	ENST00000358127;ENST00000377849;ENST00000377853;ENST00000377852;ENST00000520281;ENST00000446742;ENST00000522003;ENST00000523145;ENST00000414447;ENST00000377847;ENST00000524340	T;T;D;T;D;T;D;T;D;T	0.97303	1.71;1.71;-3.96;1.71;-3.61;1.71;-2.15;1.71;-4.33;1.71	5.93	5.93	0.95920	.	0.312513	0.35466	N	0.003198	D	0.96288	0.8789	N	0.17674	0.51	0.46113	D	0.998873	B;B;P;B;D;B;B;B	0.71674	0.004;0.051;0.843;0.002;0.998;0.004;0.004;0.004	B;B;B;B;D;B;B;B	0.70016	0.004;0.027;0.388;0.001;0.967;0.004;0.004;0.004	D	0.93155	0.6553	10	0.07644	T	0.81	.	19.1082	0.93305	0.0:0.0:1.0:0.0	.	251;251;228;294;121;294;294;294	C0KTF8;C0KTF7;C0KTF9;C0KTF6;C0KTE2;Q6S730;Q6S731;Q02548	.;.;.;.;.;.;.;PAX5_HUMAN	S	294;205;294;294;251;228;186;186;251;294;121	ENSP00000350844:P294S;ENSP00000367084:P294S;ENSP00000367083:P294S;ENSP00000430773:P251S;ENSP00000404687:P228S;ENSP00000429359:P186S;ENSP00000429197:P186S;ENSP00000412188:P251S;ENSP00000367078:P294S;ENSP00000429404:P121S	ENSP00000350844:P294S	P	-	1	0	PAX5	36913382	1.000000	0.71417	0.992000	0.48379	0.980000	0.70556	5.026000	0.64103	2.805000	0.96524	0.655000	0.94253	CCA		0.622	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1			4	152	0	0	0	0.009096	0	4	152					A	36923382	G	A	36923382	3	1	4	1	0	0	0	0	1	0	0	0	11482	1203	42	2	311	2	PAX5	9	36923382	Missense_Mutation	SNP	G	TCGA-BJ-A0Z2-01A-11D-A10S-08	1017038	36923382	104290049	14	156											
NANS	54187	broad.mit.edu	37	chr9	100845135	100845135	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attttgtccacagctgggcaAgtctgtggtggccaaagtga	13	8	1	1			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr9:100845135A>C	ENST00000210444.5	+	6	948	c.878A>C	c.(877-879)aAg>aCg	p.K293T	TRIM14_ENST00000375098.3_Intron|NANS_ENST00000461452.1_3'UTR|TRIM14_ENST00000478530.1_Intron	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	293					lipopolysaccharide biosynthetic process (GO:0009103)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	N-acetylneuraminate synthase activity (GO:0050462)|N-acylneuraminate cytidylyltransferase activity (GO:0008781)|N-acylneuraminate-9-phosphate synthase activity (GO:0047444)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				CAGCTGGGCAAGTCTGTGGTG	0.488																																						ENST00000210444.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						c.(877-879)aAg>aCg		N-acetylneuraminic acid synthase							66	58	61					9																	100845135		2203	4300	6503	SO:0001583	missense	54187				lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity	g.chr9:100845135A>C	AF161387	CCDS6733.1	9p24.1-p23	2008-07-31	2008-07-31		ENSG00000095380	ENSG00000095380			19237	protein-coding gene	gene with protein product	"sialic acid synthase"	605202				10749855	Standard	NM_018946		Approved	SAS	uc004ayc.3	Q9NR45	OTTHUMG00000020341	ENST00000210444.5:c.878A>C	9.37:g.100845135A>C	ENSP00000210444:p.Lys293Thr					NANS_ENST00000461452.1_3'UTR|TRIM14_ENST00000375098.3_Intron|TRIM14_ENST00000478530.1_Intron	p.K293T	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN			6	948	+		Acute lymphoblastic leukemia(62;0.0559)	293					B2RE98|Q8WUV9|Q9BWS6|Q9NVD4	Missense_Mutation	SNP	ENST00000210444.5	37	c.878A>C	CCDS6733.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.524750	0.85600	.	.	ENSG00000095380	ENST00000210444	T	0.50277	0.75	5.6	5.6	0.85130	Antifreeze-like/N-acetylneuraminic acid synthase C-terminal (1);Aldolase-type TIM barrel (1);SAF domain (1);	0.000000	0.85682	D	0.000000	T	0.66005	0.2746	M	0.79805	2.47	0.80722	D	1	D	0.54964	0.969	P	0.58013	0.831	T	0.71444	-0.4591	10	0.87932	D	0	-23.0255	14.0504	0.64732	1.0:0.0:0.0:0.0	.	293	Q9NR45	SIAS_HUMAN	T	293	ENSP00000210444:K293T	ENSP00000210444:K293T	K	+	2	0	NANS	99884956	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.930000	0.92872	2.277000	0.76020	0.528000	0.53228	AAG		0.488	NANS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053359.1	NM_018946		32	37	0	0	0	0.045705	0	32	37					C	100845135	A	C	100845135	3	2	4	1	0	0	0	0	1	0	0	0	10155	72	3	5	900	5	NANS	9	100845135	Missense_Mutation	SNP	A	TCGA-BJ-A0Z2-01A-11D-A10S-08	63921753	100845135	40368296	15	157											
WDR38	401551	broad.mit.edu	37	chr9	127617941	127617941	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagttctgccgcttctccccTgatggccacctcttcgccag	8	17	3	1	rs546571014	byFrequency	TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr9:127617941T>C	ENST00000373574.1	+	3	275	c.219T>C	c.(217-219)ccT>ccC	p.P73P		NM_001045476.1|NM_001276374.1	NP_001038941.1|NP_001263303.1	Q5JTN6	WDR38_HUMAN	WD repeat domain 38	73					hematopoietic progenitor cell differentiation (GO:0002244)					breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						GCTTCTCCCCTGATGGCCACC	0.642																																						ENST00000373574.1																			0				breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						c.(217-219)ccT>ccC		WD repeat domain 38							52	59	57					9																	127617941		2095	4224	6319	SO:0001819	synonymous_variant	401551							g.chr9:127617941T>C		CCDS43876.1, CCDS75898.1, CCDS75899.1	9q33.3	2013-01-09			ENSG00000136918	ENSG00000136918		"WD repeat domain containing"	23745	protein-coding gene	gene with protein product							Standard	NM_001276375		Approved		uc011lzo.3	Q5JTN6	OTTHUMG00000020664	ENST00000373574.1:c.219T>C	9.37:g.127617941T>C							p.P73P	NM_001045476.1|NM_001276374.1	NP_001038941.1|NP_001263303.1	Q5JTN6	WDR38_HUMAN			3	275	+			73					A0PK24	Silent	SNP	ENST00000373574.1	37	c.219T>C	CCDS43876.1																																																																																				0.642	WDR38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054048.1	NM_001045476		3	106	0	0	0	0.004672	0	3	106					C	127617941	T	C	127617941	2	2	4	1	0	0	0	0	0	0	0	1	17289	1567	55	3		3	WDR38	9	127617941	Silent	SNP	T	TCGA-BJ-A0Z2-01A-11D-A10S-08	26772806	127617941	13595490	16	158											
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	14	13	0	0	rs121913233		TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117	102	107					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)				HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R	p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		61	100	0	0	0	0.048971	0	61	100					C	533874	T	C	533874	3	2	4	1	0	0	0	0	1	0	0	0	7348	1580	55	3	466	3	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-BJ-A0Z2-01A-11D-A10S-08		533874	134472642	17	159											
MUC5B	727897	broad.mit.edu	37	chr11	1275535	1275535	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catccactacaagtccatggAtatcgtcctcactgtcacca	5	15	2	0			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr11:1275535A>T	ENST00000529681.1	+	34	15489	c.15431A>T	c.(15430-15432)gAt>gTt	p.D5144V	MUC5B_ENST00000447027.1_Missense_Mutation_p.D5147V	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5144	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AAGTCCATGGATATCGTCCTC	0.642																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(15439-15441)gAt>gTt		mucin 5B, oligomeric mucus/gel-forming							34	41	39					11																	1275535		2166	4259	6425	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1275535A>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.15431A>T	11.37:g.1275535A>T	ENSP00000436812:p.Asp5144Val					MUC5B_ENST00000529681.1_Missense_Mutation_p.D5144V	p.D5147V			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	34	15498	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	5144			VWFD 4.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.15440A>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	A	11.30	1.599474	0.28534	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000546052;ENST00000406844	T;T	0.16457	2.34;2.53	4.4	1.9	0.25705	.	.	.	.	.	T	0.14356	0.0347	N	0.14661	0.345	0.09310	N	1	D;P	0.53619	0.961;0.891	P;P	0.51701	0.677;0.587	T	0.11567	-1.0582	9	0.87932	D	0	.	6.2598	0.20893	0.7419:0.1635:0.0945:0.0	.	5481;5147	A7Y9J9;E9PBJ0	.;.	V	5144;5147;5088;43;4856	ENSP00000436812:D5144V;ENSP00000415793:D5147V	ENSP00000343037:D5088V	D	+	2	0	MUC5B	1232111	0.012000	0.17670	0.012000	0.15200	0.507000	0.33981	2.113000	0.41902	1.754000	0.51921	0.329000	0.21502	GAT		0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		23	32	0	0	0	0.108266	0	23	32					T	1275535	A	T	1275535	3	4	4	1	0	0	0	0	1	0	0	0	9979	333	12	5	15574	5	MUC5B	11	1275535	Missense_Mutation	SNP	A	TCGA-BJ-A0Z2-01A-11D-A10S-08	741661	1275535	133730981	18	160											
PIK3C2A	5286	broad.mit.edu	37	chr11	17144297	17144297	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttttttggtaactgttccAggaacagaatttgtatgtga	9	6	0	2			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr11:17144297A>G	ENST00000265970.7	-	13	2462	c.2463T>C	c.(2461-2463)ccT>ccC	p.P821P	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Silent_p.P441P	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	821	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00041, ECO:0000255|PROSITE- ProRule:PRU00880}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	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 binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						TAACTGTTCCAGGAACAGAAT	0.313																																						ENST00000265970.7																			0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(2461-2463)ccT>ccC		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						82	82	82					11																	17144297		2200	4290	6490	SO:0001819	synonymous_variant	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17144297A>G	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"phosphoinositide-3-kinase, class 2, alpha polypeptide"			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.2463T>C	11.37:g.17144297A>G						PIK3C2A_ENST00000540361.1_Silent_p.P441P|PIK3C2A_ENST00000531428.1_Intron	p.P821P	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN			13	2462	-			821					B0LPH2|B4E2G4|Q14CQ9	Silent	SNP	ENST00000265970.7	37	c.2463T>C	CCDS7824.1																																																																																				0.313	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		7	75	0	0	0	0.02938	0	7	75					G	17144297	A	G	17144297	2	3	4	1	0	0	0	0	0	0	0	1	11909	175	7	3		3	PIK3C2A	11	17144297	Silent	SNP	A	TCGA-BJ-A0Z2-01A-11D-A10S-08	15868762	17144297	117862219	19	161											
TPCN2	219931	broad.mit.edu	37	chr11	68830447	68830447	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatccgctggtcgctgccGgaaatggccaggtgggctct	15	12	1	0	rs576860218	byFrequency	TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr11:68830447G>A	ENST00000294309.3	+	6	743	c.642G>A	c.(640-642)ccG>ccA	p.P214P	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Silent_p.P214P	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	214					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGTCGCTGCCGGAAATGGCCA	0.647													g|||	2	0.000399361	0	0.0014	5008	,	,		16754	0		0	False		,,,				2504	0.001					ENST00000294309.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(640-642)ccG>ccA		two pore segment channel 2							84	82	83					11																	68830447		2200	4294	6494	SO:0001819	synonymous_variant	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68830447G>A	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"Voltage-gated ion channels / Two-pore channels"	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.642G>A	11.37:g.68830447G>A						TPCN2_ENST00000542467.1_Silent_p.P214P|TPCN2_ENST00000442692.2_3'UTR	p.P214P	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		6	743	+			214					Q9NT82	Silent	SNP	ENST00000294309.3	37	c.642G>A	CCDS8189.1																																																																																				0.647	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075		4	159	0	0	0	0.009096	0	4	159					A	68830447	G	A	68830447	2	1	4	1	0	0	0	0	0	0	0	1	16393	1103	39	1		1	TPCN2	11	68830447	Silent	SNP	G	TCGA-BJ-A0Z2-01A-11D-A10S-08	51686150	68830447	66176069	20	162											
PDE3A	5139	broad.mit.edu	37	chr12	20799741	20799741	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgtattctcaaaaacgtatAatgtgacagatgataaatac	6	5	1	3			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr12:20799741A>T	ENST00000359062.3	+	12	2462	c.2422A>T	c.(2422-2424)Aat>Tat	p.N808Y	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	808	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	AAAAACGTATAATGTGACAGA	0.398																																						ENST00000359062.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(2422-2424)Aat>Tat		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						161	151	155					12																	20799741		2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20799741A>T		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2422A>T	12.37:g.20799741A>T	ENSP00000351957:p.Asn808Tyr					PDE3A_ENST00000544307.1_3'UTR	p.N808Y	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			12	2462	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	808			Catalytic (By similarity).		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.2422A>T	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	A	12.25	1.880376	0.33255	.	.	ENSG00000172572	ENST00000359062	T	0.76709	-1.04	5.84	1.63	0.23807	Metal-dependent phosphohydrolase, HD domain (1);	0.512427	0.21568	N	0.072449	T	0.52025	0.1709	N	0.14661	0.345	0.09310	N	1	B	0.26400	0.148	B	0.26770	0.073	T	0.32375	-0.9909	10	0.09338	T	0.73	.	3.554	0.07857	0.6429:0.1098:0.1341:0.1132	.	808	Q14432	PDE3A_HUMAN	Y	808	ENSP00000351957:N808Y	ENSP00000351957:N808Y	N	+	1	0	PDE3A	20691008	0.000000	0.05858	0.183000	0.23137	0.988000	0.76386	0.335000	0.19806	0.447000	0.26695	0.519000	0.50382	AAT		0.398	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			98	109	0	0	0	0.048971	0	98	109					T	20799741	A	T	20799741	3	4	4	1	0	0	0	0	1	0	0	0	11637	362	13	5	2468	5	PDE3A	12	20799741	Missense_Mutation	SNP	A	TCGA-BJ-A0Z2-01A-11D-A10S-08		20799741	113052154	21	163											
SUOX	6821	broad.mit.edu	37	chr12	56397583	56397583	+	Frame_Shift_Del	DEL	G	G	-													gggtcccctagagcccttctGggccctctatgctgttcaca							TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr12:56397583delG	ENST00000394109.3	+	3	1134	c.410delG	c.(409-411)tggfs	p.W137fs	SUOX_ENST00000551841.2_Intron|SUOX_ENST00000394115.2_Frame_Shift_Del_p.W137fs|SUOX_ENST00000266971.3_Frame_Shift_Del_p.W137fs|SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000356124.4_Frame_Shift_Del_p.W137fs|SUOX_ENST00000548274.1_Frame_Shift_Del_p.W137fs			P51687	SUOX_HUMAN	sulfite oxidase	137	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			GAGCCCTTCTGGGCCCTCTAT	0.557																																						ENST00000394109.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15						c.(409-411)tgfs		sulfite oxidase							90	91	90					12																	56397583		2203	4300	6503	SO:0001589	frameshift_variant	6821					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity	g.chr12:56397583delG	BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.410delG	12.37:g.56397583delG	ENSP00000377668:p.Trp137fs					SUOX_ENST00000548274.1_Frame_Shift_Del_p.W137fs|SUOX_ENST00000394115.2_Frame_Shift_Del_p.W137fs|SUOX_ENST00000551841.2_Intron|SUOX_ENST00000356124.4_Frame_Shift_Del_p.W137fs|SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000266971.3_Frame_Shift_Del_p.W137fs	p.W137fs			P51687	SUOX_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)		3	1134	+			137			Cytochrome b5 heme-binding.			Frame_Shift_Del	DEL	ENST00000394109.3	37	c.410delG	CCDS8901.2																																																																																				0.557	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250309.1	NM_000456		97	126						97	126	---	---	---	---	-	56397583	G	-	56397583	7	5	4	1	0	1	0	1	0	0	0	0	15392	1357	47	0	420	0	SUOX	12	56397583	Frame_Shift_Del	DEL	G	TCGA-BJ-A0Z2-01A-11D-A10S-08	35597842	56397583	77454312	22	164											
PRKD1	5587	broad.mit.edu	37	chr14	30066788	30066788	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tcttcatcttcattaaatggGaatgtgccgcttaggcttac	8	9	4	0			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr14:30066788G>C	ENST00000331968.5	-	16	2572	c.2343C>G	c.(2341-2343)ttC>ttG	p.F781L	PRKD1_ENST00000415220.2_Missense_Mutation_p.F789L	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	781	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CATTAAATGGGAATGTGCCGC	0.438																																						ENST00000331968.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78						c.(2341-2343)ttC>ttG		protein kinase D1							153	143	146					14																	30066788		2203	4300	6503	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30066788G>C		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"Pleckstrin homology (PH) domain containing"	9407	protein-coding gene	gene with protein product		605435	"protein kinase C, mu"	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2343C>G	14.37:g.30066788G>C	ENSP00000333568:p.Phe781Leu					PRKD1_ENST00000415220.2_Missense_Mutation_p.F789L	p.F781L	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	16	2572	-	Hepatocellular(127;0.0604)		781			Protein kinase.		A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.2343C>G	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175349	0.78564	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	D;D	0.81659	-1.52;-1.52	5.62	1.91	0.25777	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	0.85682	D	0.000000	T	0.68311	0.2987	N	0.02721	-0.515	0.58432	D	0.999999	P	0.41159	0.74	P	0.52758	0.708	T	0.68250	-0.5458	10	0.46703	T	0.11	-26.8609	9.1712	0.37083	0.4272:0.0:0.5728:0.0	.	781	Q15139	KPCD1_HUMAN	L	781;789	ENSP00000333568:F781L;ENSP00000390535:F789L	ENSP00000333568:F781L	F	-	3	2	PRKD1	29136539	0.996000	0.38824	1.000000	0.80357	0.985000	0.73830	0.477000	0.22196	0.647000	0.30713	0.650000	0.86243	TTC		0.438	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		75	79	0	0	0	0.048971	0	75	79					C	30066788	G	C	30066788	3	2	4	1	0	0	0	0	1	0	0	0	12518	1165	41	4	407	4	PRKD1	14	30066788	Missense_Mutation	SNP	G	TCGA-BJ-A0Z2-01A-11D-A10S-08		30066788	77282752	23	165											
ZNF652	22834	broad.mit.edu	37	chr17	47375973	47375973	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagaaggggtgggggatgggCcgagggggaagagtgcttac	23	4	0	2			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr17:47375973C>A	ENST00000362063.2	-	6	1941	c.1623G>T	c.(1621-1623)cgG>cgT	p.R541R	ZNF652_ENST00000430262.2_Silent_p.R541R	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	541	Mediates interaction with CBFA2T3.|Pro-rich.				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)			gggggatgggccgagggGGAA	0.597																																						ENST00000362063.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(1621-1623)cgG>cgT		zinc finger protein 652							60	65	63					17																	47375973		2203	4300	6503	SO:0001819	synonymous_variant	22834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr17:47375973C>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.1623G>T	17.37:g.47375973C>A						ZNF652_ENST00000430262.2_Silent_p.R541R	p.R541R	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)		6	1941	-	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		541			Mediates interaction with CBFA2T3.|Pro-rich.		A4QPD9|Q5H9Q0	Silent	SNP	ENST00000362063.2	37	c.1623G>T	CCDS32677.1																																																																																				0.597	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	NM_014897		22	30	1	0	1.36565e-18	0.076483	1.58291e-18	22	30					A	47375973	C	A	47375973	2	1	4	1	0	0	0	0	0	0	0	1	18062	726	26	4		4	ZNF652	17	47375973	Silent	SNP	C	TCGA-BJ-A0Z2-01A-11D-A10S-08		47375973	33819237	24	166											
POTEC	388468	broad.mit.edu	37	chr18	14542921	14542921	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcccacgttgctcgtgccGctccccctgcagcaggggaa	13	16	0	0			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr18:14542921G>A	ENST00000358970.5	-	1	224	c.225C>T	c.(223-225)agC>agT	p.S75S	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	75								p.S75S(1)|p.S75R(1)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGCTCGTGCCGCTCCCCCTGC	0.567																																						ENST00000358970.5																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.S75S(1)|p.S75R(1)	lung(1)|kidney(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(223-225)agC>agT		POTE ankyrin domain family, member C							43	53	50					18																	14542921		692	1591	2283	SO:0001819	synonymous_variant	388468							g.chr18:14542921G>A	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33894	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 6"		"ANKRD26-like family B, member 2"	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.225C>T	18.37:g.14542921G>A						POTEC_ENST00000389891.4_5'UTR	p.S75S	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			1	224	-			75						Silent	SNP	ENST00000358970.5	37	c.225C>T	CCDS45835.1																																																																																				0.567	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		113	234	0	0	0	0.048971	0	113	234					A	14542921	G	A	14542921	2	1	4	1	0	0	0	0	0	0	0	1	12262	1078	38	1		1	POTEC	18	14542921	Silent	SNP	G	TCGA-BJ-A0Z2-01A-11D-A10S-08		14542921	63534327	25	167											
MUC16	94025	broad.mit.edu	37	chr19	9049457	9049457	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caggtgagacagtcataattGgaatagctgaactggtttct	11	6	2	2			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr19:9049457G>C	ENST00000397910.4	-	5	32377	c.32174C>G	c.(32173-32175)cCa>cGa	p.P10725R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10727	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTCATAATTGGAATAGCTGA	0.443																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(32173-32175)cCa>cGa		mucin 16, cell surface associated							239	211	220					19																	9049457		1915	4137	6052	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9049457G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.32174C>G	19.37:g.9049457G>C	ENSP00000381008:p.Pro10725Arg						p.P10725R	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	32377	-			10727			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.32174C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.879	0.163394	0.09287	.	.	ENSG00000181143	ENST00000397910	T	0.03242	4.0	3.18	2.1	0.27182	.	.	.	.	.	T	0.07954	0.0199	L	0.36672	1.1	.	.	.	D	0.69078	0.997	P	0.62184	0.899	T	0.18618	-1.0331	8	0.87932	D	0	.	6.6459	0.22934	0.1363:0.0:0.8637:0.0	.	10725	B5ME49	.	R	10725	ENSP00000381008:P10725R	ENSP00000381008:P10725R	P	-	2	0	MUC16	8910457	0.031000	0.19500	0.001000	0.08648	0.043000	0.13939	1.433000	0.34947	0.862000	0.35528	0.479000	0.44913	CCA		0.443	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		159	215	0	0	0	0.048971	0	159	215					C	9049457	G	C	9049457	3	2	4	1	0	0	0	0	1	0	0	0	9973	1348	47	4	11669	4	MUC16	19	9049457	Missense_Mutation	SNP	G	TCGA-BJ-A0Z2-01A-11D-A10S-08		9049457	50079526	26	168											
KIAA2022	340533	broad.mit.edu	37	chrX	73963336	73963336	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctctgcttcagggccccActcttagactctcgcttggg	10	15	4	1			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chrX:73963336A>C	ENST00000055682.6	-	3	1667	c.1056T>G	c.(1054-1056)agT>agG	p.S352R		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	352					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCAGGGCCCCACTCTTAGACT	0.468																																						ENST00000373468.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(1054-1056)agT>agG		KIAA2022							59	55	56					X																	73963336		2203	4299	6502	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73963336A>C		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.1056T>G	X.37:g.73963336A>C	ENSP00000055682:p.Ser352Arg					KIAA2022_ENST00000055682.5_Missense_Mutation_p.S352R	p.S352R			Q5QGS0	K2022_HUMAN			3	1707	-			352					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.1056T>G	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	A	7.196	0.592526	0.13875	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.32515	1.45;1.45	5.93	2.31	0.28768	.	0.901601	0.10006	N	0.727817	T	0.24890	0.0604	L	0.44542	1.39	0.38431	D	0.946445	B	0.02656	0.0	B	0.06405	0.002	T	0.10894	-1.0610	10	0.62326	D	0.03	-3.7851	5.2431	0.15483	0.4481:0.2186:0.3334:0.0	.	352	Q5QGS0	K2022_HUMAN	R	352	ENSP00000362567:S352R;ENSP00000055682:S352R	ENSP00000055682:S352R	S	-	3	2	KIAA2022	73880061	0.414000	0.25408	0.995000	0.50966	0.372000	0.29890	0.174000	0.16743	0.340000	0.23745	0.486000	0.48141	AGT		0.468	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		4	71	0	0	0	0.009096	0	4	71					C	73963336	A	C	73963336	3	2	4	1	0	0	0	0	1	0	0	0	8269	156	6	5	3502	5	KIAA2022	23	73963336	Missense_Mutation	SNP	A	TCGA-BJ-A0Z2-01A-11D-A10S-08		73963336	81307224	27	169											
MYT1L	23040	broad.mit.edu	37	chr2	1907015	1907015	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcgtagttgtggggacattGtttctgtagccatactgagg	15	6	1	1			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr2:1907015G>T	ENST00000399161.2	-	14	2616	c.1869C>A	c.(1867-1869)aaC>aaA	p.N623K	MYT1L_ENST00000428368.2_Missense_Mutation_p.N621K	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	623					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGGGGACATTGTTTCTGTAGC	0.458																																						ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(1867-1869)aaC>aaA		myelin transcription factor 1-like							82	76	78					2																	1907015		1985	4165	6150	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1907015G>T	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1869C>A	2.37:g.1907015G>T	ENSP00000382114:p.Asn623Lys					MYT1L_ENST00000428368.2_Missense_Mutation_p.N621K	p.N623K	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	14	2616	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	623					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.1869C>A		.	.	.	.	.	.	.	.	.	.	G	20.3	3.962432	0.74016	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.44083	0.93;0.93	5.51	4.64	0.57946	Myelin transcription factor 1 (1);	0.000000	0.85682	D	0.000000	T	0.47600	0.1454	M	0.68317	2.08	0.80722	D	1	D;P	0.54047	0.964;0.944	P;B	0.48334	0.574;0.359	T	0.51442	-0.8705	10	0.62326	D	0.03	-61.7498	10.556	0.45118	0.1473:0.0:0.8527:0.0	.	623;621	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	K	623;569;621	ENSP00000382114:N623K;ENSP00000396103:N621K	ENSP00000295067:N569K	N	-	3	2	MYT1L	1886022	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.236000	0.58675	1.343000	0.45638	0.561000	0.74099	AAC		0.458	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		6	43	1	0	5.4927e-09	0.004482	7.68978e-09	6	43					T	1907015	G	T	1907015	3	4	5	1	0	0	0	0	1	0	0	0	10107	1368	48	4	1739	4	MYT1L	2	1907015	Missense_Mutation	SNP	G	TCGA-BJ-A0Z3-01A-11D-A13W-08		1907015	241292358	1	170											
USP40	55230	broad.mit.edu	37	chr2	234389870	234389870	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttccttctccccagggccCgttgtttctgcttttctttt	6	13	3	0	rs368386083		TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr2:234389870C>T	ENST00000427112.2	-	30	3610	c.3575G>A	c.(3574-3576)cGg>cAg	p.R1192Q	USP40_ENST00000450966.1_Missense_Mutation_p.R1204Q|USP40_ENST00000251722.6_Missense_Mutation_p.R1192Q			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	1192					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CCCCAGGGCCCGTTGTTTCTG	0.453																																						ENST00000251722.6																			0				breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(3574-3576)cGg>cAg		ubiquitin specific peptidase 40		C	GLN/ARG	0,3788		0,0,1894	185	176	179		3611	-3.9	0.0	2		179	1,8215		0,1,4107	no	missense	USP40	NM_018218.2	43	0,1,6001	TT,TC,CC		0.0122,0.0,0.0083	benign	1204/1248	234389870	1,12003	1894	4108	6002	SO:0001583	missense	55230				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:234389870C>T	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"Ubiquitin-specific peptidases"	20069	protein-coding gene	gene with protein product		610570	"ubiquitin specific protease 40"			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.3575G>A	2.37:g.234389870C>T	ENSP00000387898:p.Arg1192Gln					USP40_ENST00000450966.1_Missense_Mutation_p.R1204Q|USP40_ENST00000427112.2_Missense_Mutation_p.R1192Q	p.R1192Q			Q9NVE5	UBP40_HUMAN		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	31	3692	-		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)	1192					Q6NX38|Q70EL0	Missense_Mutation	SNP	ENST00000427112.2	37	c.3575G>A	CCDS46547.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.279279	0.23307	0.0	1.22E-4	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112	T;T;T	0.04454	3.62;3.62;3.62	5.22	-3.86	0.04230	.	1.478860	0.04070	N	0.307878	T	0.02156	0.0067	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.42515	-0.9447	10	0.21540	T	0.41	.	0.2608	0.00218	0.3485:0.2333:0.1984:0.2198	.	1204	Q9NVE5-3	.	Q	1204;1192;1192	ENSP00000415434:R1204Q;ENSP00000251722:R1192Q;ENSP00000387898:R1192Q	ENSP00000251722:R1192Q	R	-	2	0	USP40	234054609	0.003000	0.15002	0.000000	0.03702	0.015000	0.08874	0.221000	0.17680	-1.046000	0.03246	-1.061000	0.02294	CGG		0.453	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		3	19	0	0	0	0.009096	0	3	19					T	234389870	C	T	234389870	3	4	5	1	0	0	0	0	1	0	0	0	17069	652	23	1	140	1	USP40	2	234389870	Missense_Mutation	SNP	C	TCGA-BJ-A0Z3-01A-11D-A13W-08	232482855	234389870	8809503	2	171											
RAD18	56852	broad.mit.edu	37	chr3	8990195	8990195	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggaaacaaaaactcaccaCacagcaagttggacactgag	8	10	1	1			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr3:8990195C>T	ENST00000264926.2	-	3	309	c.193G>A	c.(193-195)Gtg>Atg	p.V65M	RAD18_ENST00000495087.1_5'UTR	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 E3 ubiquitin protein ligase	65					DNA repair (GO:0006281)|negative regulation of DNA recombination (GO:0045910)|protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|spermatogenesis (GO:0007283)	chromatin (GO:0000785)|nucleus (GO:0005634)|replication fork (GO:0005657)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|ligase activity (GO:0016874)|polyubiquitin binding (GO:0031593)|ubiquitin protein ligase binding (GO:0031625)|Y-form DNA binding (GO:0000403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		AAACTCACCACACAGCAAGTT	0.338								Rad6 pathway																														ENST00000264926.2																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15						c.(193-195)Gtg>Atg	Rad6 pathway	RAD18 homolog (S. cerevisiae)							101	113	109					3																	8990195		2203	4297	6500	SO:0001583	missense	56852				DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding	g.chr3:8990195C>T		CCDS2571.1	3p25-p24	2014-08-04	2014-08-04		ENSG00000070950	ENSG00000070950		"RING-type (C3HC4) zinc fingers"	18278	protein-coding gene	gene with protein product		605256	"RAD18 homolog (S. cerevisiae)"			10884424, 10908344	Standard	NM_020165		Approved	RNF73	uc003brd.3	Q9NS91	OTTHUMG00000090545	ENST00000264926.2:c.193G>A	3.37:g.8990195C>T	ENSP00000264926:p.Val65Met					RAD18_ENST00000495087.1_5'UTR	p.V65M	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0552)	3	309	-			65					Q58F55|Q9NRT6	Missense_Mutation	SNP	ENST00000264926.2	37	c.193G>A	CCDS2571.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241616	0.79912	.	.	ENSG00000070950	ENST00000264926;ENST00000413832	T;T	0.17528	2.27;2.27	5.72	5.72	0.89469	Zinc finger, RING/FYVE/PHD-type (1);	0.195636	0.46145	D	0.000310	T	0.21841	0.0526	N	0.20357	0.565	0.43467	D	0.995678	P	0.46621	0.881	P	0.53988	0.739	T	0.00945	-1.1505	10	0.42905	T	0.14	-5.5725	15.3966	0.74798	0.0:1.0:0.0:0.0	.	65	Q9NS91	RAD18_HUMAN	M	65	ENSP00000264926:V65M;ENSP00000412261:V65M	ENSP00000264926:V65M	V	-	1	0	RAD18	8965195	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.083000	0.30815	2.717000	0.92951	0.655000	0.94253	GTG		0.338	RAD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207071.2	NM_020165		4	155	0	0	0	0.000602	0	4	155					T	8990195	C	T	8990195	3	4	5	1	0	0	0	0	1	0	0	0	12980	478	17	2	1338	2	RAD18	3	8990195	Missense_Mutation	SNP	C	TCGA-BJ-A0Z3-01A-11D-A13W-08		8990195	189032235	3	172											
CTNNB1	1499	broad.mit.edu	37	chr3	41280717	41280717	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgagatgggtggccaccacCctggtgctgactatccagtt	12	11	0	2			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr3:41280717C>A	ENST00000349496.5	+	15	2510	c.2230C>A	c.(2230-2232)Cct>Act	p.P744T	CTNNB1_ENST00000396183.3_Missense_Mutation_p.P744T|CTNNB1_ENST00000396185.3_Missense_Mutation_p.P744T|CTNNB1_ENST00000405570.1_Missense_Mutation_p.P744T|CTNNB1_ENST00000453024.1_Missense_Mutation_p.P737T|CTNNB1_ENST00000471014.1_3'UTR	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	744					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|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 cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TGGCCACCACCCTGGTGCTGA	0.557		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5		15		Dom	yes		3	3p22-p21.3	1499	"H, Mis, T"	"catenin (cadherin-associated protein), beta 1"			"E, M, O"	PLAG1		"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"	CTNNB1/PLAG1(60)	0				NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(2230-2232)Cct>Act		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						81	73	76					3																	41280717		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41280717C>A	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.2230C>A	3.37:g.41280717C>A	ENSP00000344456:p.Pro744Thr					CTNNB1_ENST00000396183.3_Missense_Mutation_p.P744T|CTNNB1_ENST00000471014.1_3'UTR|CTNNB1_ENST00000405570.1_Missense_Mutation_p.P744T|CTNNB1_ENST00000396185.3_Missense_Mutation_p.P744T|CTNNB1_ENST00000453024.1_Missense_Mutation_p.P737T	p.P744T	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	15	2510	+			744					A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.2230C>A	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082871	0.36758	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.48892	0.1525	L	0.43152	1.355	0.80722	D	1	B;B	0.27068	0.167;0.0	B;B	0.21360	0.034;0.001	T	0.42275	-0.9461	10	0.49607	T	0.09	-28.1093	19.7949	0.96477	0.0:1.0:0.0:0.0	.	672;744	B4DSW9;P35222	.;CTNB1_HUMAN	T	744;744;744;737;744	ENSP00000385604:P744T;ENSP00000379486:P744T;ENSP00000344456:P744T;ENSP00000411226:P737T;ENSP00000379488:P744T	ENSP00000344456:P744T	P	+	1	0	CTNNB1	41255721	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.920000	0.70017	2.679000	0.91253	0.557000	0.71058	CCT		0.557	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		6	90	1	0	3.59834e-05	0.001168	4.87516e-05	6	90					A	41280717	C	A	41280717	3	1	5	1	0	0	0	0	1	0	0	0	4016	623	22	4	2284	4	CTNNB1	3	41280717	Missense_Mutation	SNP	C	TCGA-BJ-A0Z3-01A-11D-A13W-08	32290522	41280717	156741713	4	173											
KBTBD5	131377	broad.mit.edu	37	chr3	42727577	42727577	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgtggctgcccgcgacttcaTctgcgctcacttcacgctgg	11	16	4	0			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr3:42727577T>A	ENST00000287777.4	+	1	567	c.467T>A	c.(466-468)aTc>aAc	p.I156N		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	156	BACK.				multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)											CGCGACTTCATCTGCGCTCAC	0.657																																						ENST00000287777.4																			0											c.(466-468)aTc>aAc		kelch-like family member 40							59	59	59					3																	42727577		2203	4299	6502	SO:0001583	missense	131377							g.chr3:42727577T>A	AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"Kelch-like", "BTB/POZ domain containing"	30372	protein-coding gene	gene with protein product	"sarcosynapsin", "nemaline myopathy type 8"	615340	"kelch repeat and BTB (POZ) domain containing 5", "kelch-like 40 (Drosophila)"	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.467T>A	3.37:g.42727577T>A	ENSP00000287777:p.Ile156Asn						p.I156N	NM_152393.2	NP_689606.2					1	567	+								Q86SI1|Q96MR2	Missense_Mutation	SNP	ENST00000287777.4	37	c.467T>A	CCDS2703.1	.	.	.	.	.	.	.	.	.	.	T	19.55	3.848943	0.71603	.	.	ENSG00000157119	ENST00000287777	T	0.73047	-0.71	4.56	4.56	0.56223	BTB/Kelch-associated (2);	0.175151	0.51477	D	0.000097	D	0.86682	0.5991	M	0.92738	3.34	0.47905	D	0.999544	D	0.71674	0.998	D	0.70935	0.971	D	0.90089	0.4176	10	0.87932	D	0	.	14.0796	0.64912	0.0:0.0:0.0:1.0	.	156	Q2TBA0	KBTB5_HUMAN	N	156	ENSP00000287777:I156N	ENSP00000287777:I156N	I	+	2	0	KBTBD5	42702581	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.977000	0.56874	1.937000	0.56155	0.533000	0.62120	ATC		0.657	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256651.1	NM_152393		9	60	0	0	0	0.006214	0	9	60					A	42727577	T	A	42727577	3	1	5	1	0	0	0	0	1	0	0	0	7996	1435	50	5	469	5	KBTBD5	3	42727577	Missense_Mutation	SNP	T	TCGA-BJ-A0Z3-01A-11D-A13W-08	1446860	42727577	155294853	5	174											
RASSF1	11334	broad.mit.edu	37	chr3	50368106	50368106	+	5'Flank	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggtgctcctcctcctccCgctgcaggatacgtaggaag	13	13	0	0	rs142957899		TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr3:50368106C>T	ENST00000232496.4	-	0	0				RASSF1_ENST00000359365.4_Missense_Mutation_p.R310Q|RASSF1_ENST00000327761.3_Missense_Mutation_p.R240Q|RASSF1_ENST00000357043.2_Missense_Mutation_p.R314Q|TUSC2_ENST00000462137.1_5'Flank|RASSF1_ENST00000395126.3_Missense_Mutation_p.R159Q	NM_007275.1	NP_009206.1	O75896	TUSC2_HUMAN	tumor suppressor candidate 2						cell cycle (GO:0007049)|cell maturation (GO:0048469)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|chemokine (C-C motif) ligand 5 production (GO:0071609)|inflammatory response (GO:0006954)|interleukin-15 production (GO:0032618)|natural killer cell differentiation (GO:0001779)|negative regulation of interleukin-17 production (GO:0032700)|neutrophil mediated killing of gram-negative bacterium (GO:0070945)|phagocytosis (GO:0006909)|positive regulation of interleukin-10 production (GO:0032733)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to defense-related host reactive oxygen species production (GO:0052567)	mitochondrion (GO:0005739)				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTCCTCCTCCCGCTGCAGGAT	0.587																																						ENST00000359365.4																			0				lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5						c.(928-930)cGg>cAg		Ras association (RalGDS/AF-6) domain family member 1		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	103	92	95		476,929,476,719,941	5.5	1.0	3	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	RASSF1	NM_001206957.1,NM_007182.4,NM_170712.2,NM_170713.2,NM_170714.1	43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	159/190,310/341,159/190,240/271,314/345	50368106	1,13005	2203	4300	6503	SO:0001631	upstream_gene_variant	11186				cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding	g.chr3:50368106C>T	AF055479	CCDS2819.1	3p21.3	2010-09-21	2004-01-20	2004-01-21	ENSG00000114383	ENSG00000114383			17034	protein-coding gene	gene with protein product		607052	"PDGFA associated protein 2"	PDAP2		8780057, 11593436	Standard	NM_007275		Approved	FUS1, PAP, C3orf11	uc003czy.1	O75896	OTTHUMG00000156877		3.37:g.50368106C>T	Exception_encountered					RASSF1_ENST00000395126.3_Missense_Mutation_p.R159Q|RASSF1_ENST00000357043.2_Missense_Mutation_p.R314Q|RASSF1_ENST00000327761.3_Missense_Mutation_p.R240Q	p.R310Q	NM_001206957.1|NM_007182.4|NM_170714.1	NP_001193886.1|NP_009113.3|NP_733832.1	Q9NS23	RASF1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	6	1035	-			314			SARAH.		B2R4Y9	Missense_Mutation	SNP	ENST00000232496.4	37	c.929G>A	CCDS2819.1	.	.	.	.	.	.	.	.	.	.	C	33	5.279396	0.95489	0.0	1.16E-4	ENSG00000068028	ENST00000327761;ENST00000395126;ENST00000357043;ENST00000359365	T;T;T;T	0.76968	2.71;2.25;-1.06;-1.06	5.49	5.49	0.81192	SARAH (1);	0.000000	0.85682	D	0.000000	D	0.87657	0.6232	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.977	D;D;P	0.91635	0.951;0.999;0.618	D	0.87265	0.2282	10	0.51188	T	0.08	-30.2568	18.3174	0.90226	0.0:1.0:0.0:0.0	.	310;314;240	Q9NS23-2;Q9NS23;Q5TZT2	.;RASF1_HUMAN;.	Q	240;159;314;310	ENSP00000333327:R240Q;ENSP00000378558:R159Q;ENSP00000349547:R314Q;ENSP00000352323:R310Q	ENSP00000333327:R240Q	R	-	2	0	RASSF1	50343110	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	3.852000	0.55934	2.735000	0.93741	0.563000	0.77884	CGG		0.587	TUSC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346399.1	NM_007275		27	90	0	0	0	0.005443	0	27	90					T	50368106	C	T	50368106	1	4	5	0	1	0	0	0	0	0	0	0	13084	652	23	1		1	RASSF1	3	50368106	5'Flank	SNP	C	TCGA-BJ-A0Z3-01A-11D-A13W-08	7640529	50368106	147654324	6	175											
CACNA1D	776	broad.mit.edu	37	chr3	53757947	53757947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggatgcagctgtttggcgGcaagtttaattttgatgaaa	13	4	0	2			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr3:53757947G>A	ENST00000350061.5	+	14	2532	c.2021G>A	c.(2020-2022)gGc>gAc	p.G674D	CACNA1D_ENST00000288139.4_Missense_Mutation_p.G694D|CACNA1D_ENST00000422281.2_Missense_Mutation_p.G674D	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	674					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|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 potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTGTTTGGCGGCAAGTTTAAT	0.458																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(2080-2082)gGc>gAc		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						141	130	134					3																	53757947		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53757947G>A	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.2021G>A	3.37:g.53757947G>A	ENSP00000288133:p.Gly674Asp					CACNA1D_ENST00000350061.5_Missense_Mutation_p.G674D|CACNA1D_ENST00000422281.2_Missense_Mutation_p.G674D	p.G694D	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	15	2199	+			674					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.2081G>A	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	34	5.332736	0.95733	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.98822	-5.16;-5.16;-5.16;-5.16	5.97	5.97	0.96955	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99375	0.9780	M	0.91249	3.19	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;0.999;0.999;1.0	D	0.99013	1.0815	10	0.87932	D	0	.	20.417	0.99027	0.0:0.0:1.0:0.0	.	674;367;674;694	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	D	674;694;674;367	ENSP00000288133:G674D;ENSP00000288139:G694D;ENSP00000409174:G674D;ENSP00000418014:G367D	ENSP00000288139:G694D	G	+	2	0	CACNA1D	53732987	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.832000	0.97577	0.585000	0.79938	GGC		0.458	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		4	179	0	0	0	0.009096	0	4	179					A	53757947	G	A	53757947	3	1	5	1	0	0	0	0	1	0	0	0	2541	1203	42	2	2247	2	CACNA1D	3	53757947	Missense_Mutation	SNP	G	TCGA-BJ-A0Z3-01A-11D-A13W-08	3389841	53757947	144264483	7	176											
SLIT2	9353	broad.mit.edu	37	chr4	20259495	20259495	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atattttgcatttcagtcagCttatggagaataagattagc	8	5	2	2			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr4:20259495C>T	ENST00000504154.1	+	3	508	c.256C>T	c.(256-258)Ctt>Ttt	p.L86F	SLIT2_ENST00000503823.1_Missense_Mutation_p.L86F|SLIT2_ENST00000273739.5_Missense_Mutation_p.L86F|SLIT2_ENST00000503837.1_Missense_Mutation_p.L86F	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	86					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TTTCAGTCAGCTTATGGAGAA	0.333																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(256-258)Ctt>Ttt		slit homolog 2 (Drosophila)							143	157	152					4																	20259495		2203	4296	6499	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20259495C>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.256C>T	4.37:g.20259495C>T	ENSP00000422591:p.Leu86Phe					SLIT2_ENST00000503837.1_Missense_Mutation_p.L86F|SLIT2_ENST00000503823.1_Missense_Mutation_p.L86F|SLIT2_ENST00000273739.5_Missense_Mutation_p.L86F	p.L86F	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			3	508	+			86					B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.256C>T	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.042557	0.75732	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000508824	T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-0.93	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000001	D	0.90920	0.7146	H	0.94222	3.51	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92232	0.5793	10	0.87932	D	0	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	86;86	O94813-3;O94813	.;SLIT2_HUMAN	F	86;86;86;86;86;47	ENSP00000427548:L86F;ENSP00000422591:L86F;ENSP00000273739:L86F;ENSP00000422261:L86F;ENSP00000426356:L47F	ENSP00000273739:L86F	L	+	1	0	SLIT2	19868593	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.144000	0.58057	2.882000	0.98803	0.655000	0.94253	CTT		0.333	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			5	189	0	0	0	0.000602	0	5	189					T	20259495	C	T	20259495	3	4	5	1	0	0	0	0	1	0	0	0	14740	797	28	2	266	2	SLIT2	4	20259495	Missense_Mutation	SNP	C	TCGA-BJ-A0Z3-01A-11D-A13W-08		20259495	170894781	8	177											
SPEF2	79925	broad.mit.edu	37	chr5	35800129	35800129	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccccagcttgactacacacaGatgctgctttactttgcttg	7	13	0	2			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr5:35800129G>A	ENST00000356031.3	+	34	5044	c.4890G>A	c.(4888-4890)caG>caA	p.Q1630Q	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000440995.2_Silent_p.Q1625Q|SPEF2_ENST00000303129.4_Silent_p.Q427Q	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1630					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACTACACACAGATGCTGCTTT	0.463																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(4873-4875)caG>caA		sperm flagellar 2							244	223	230					5																	35800129		1988	4167	6155	SO:0001819	synonymous_variant	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35800129G>A	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.4890G>A	5.37:g.35800129G>A						SPEF2_ENST00000303129.4_Silent_p.Q427Q|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Silent_p.Q1630Q	p.Q1625Q			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		34	4875	+	all_lung(31;7.56e-05)		1630					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Silent	SNP	ENST00000356031.3	37	c.4875G>A	CCDS43309.1																																																																																				0.463	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		8	268	0	0	0	0.004482	0	8	268					A	35800129	G	A	35800129	2	1	5	1	0	0	0	0	0	0	0	1	15034	933	33	2		2	SPEF2	5	35800129	Silent	SNP	G	TCGA-BJ-A0Z3-01A-11D-A13W-08		35800129	145115131	9	178											
ZKSCAN1	7586	broad.mit.edu	37	chr7	99631796	99631796	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcccttgatgcatttggCgcgttcctgaaaagttgtgt	11	10	0	2	rs147984747	byFrequency	TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr7:99631796C>T	ENST00000324306.6	+	6	1902	c.1668C>T	c.(1666-1668)ggC>ggT	p.G556G	ZKSCAN1_ENST00000535170.1_Silent_p.G343G|ZKSCAN1_ENST00000426572.1_Silent_p.G520G	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	556					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			ATGCATTTGGCGCGTTCCTGA	0.498																																						ENST00000324306.6																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1666-1668)ggC>ggT		zinc finger with KRAB and SCAN domains 1		C		2,4404	4.2+/-10.8	0,2,2201	97	91	93		1668	-7.7	0.9	7	dbSNP_134	93	0,8600		0,0,4300	no	coding-synonymous	ZKSCAN1	NM_003439.1		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		556/564	99631796	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7586				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99631796C>T	X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"Zinc fingers, C2H2-type", "-", "-", "-"	13101	protein-coding gene	gene with protein product		601260	"zinc finger protein 36 (KOX 18)"	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.1668C>T	7.37:g.99631796C>T						ZKSCAN1_ENST00000426572.1_Silent_p.G520G|ZKSCAN1_ENST00000535170.1_Silent_p.G343G	p.G556G	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		6	1902	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		556					A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Silent	SNP	ENST00000324306.6	37	c.1668C>T	CCDS34698.1																																																																																				0.498	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344550.2	NM_003439		5	205	0	0	0	0.000602	0	5	205					T	99631796	C	T	99631796	2	4	5	1	0	0	0	0	0	0	0	1	17683	755	27	1		1	ZKSCAN1	7	99631796	Silent	SNP	C	TCGA-BJ-A0Z3-01A-11D-A13W-08		99631796	59506867	10	179											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		26	72	0	0	0	0.003954	0	26	72					T	140453136	A	T	140453136	3	4	5	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A0Z3-01A-11D-A13W-08	40821340	140453136	18685527	11	180											
MCF2L	23263	broad.mit.edu	37	chr13	113742643	113742643	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcttttggggaaacaggcGccaactcctgagattaaagc	10	9	1	1			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr13:113742643G>A	ENST00000375608.3	+	25	2839	c.2781G>A	c.(2779-2781)gcG>gcA	p.A927A	MCF2L_ENST00000375604.2_Silent_p.A954A|MCF2L_ENST00000442652.2_Silent_p.A927A|MCF2L_ENST00000375597.4_Silent_p.A895A|MCF2L_ENST00000434480.2_Silent_p.A903A|MCF2L_ENST00000423482.2_Silent_p.A895A|MCF2L_ENST00000535094.2_Silent_p.A897A|MCF2L_ENST00000421756.1_Silent_p.A901A|MCF2L_ENST00000375601.3_Silent_p.A901A|MCF2L_ENST00000397030.1_Silent_p.A930A			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	927	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GGAAACAGGCGCCAACTCCTG	0.522																																						ENST00000397030.1																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.(2788-2790)gcG>gcA		MCF.2 cell line derived transforming sequence-like							99	109	106					13																	113742643		2203	4300	6503	SO:0001819	synonymous_variant	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113742643G>A	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.2781G>A	13.37:g.113742643G>A						MCF2L_ENST00000375597.4_Silent_p.A895A|MCF2L_ENST00000535094.2_Silent_p.A897A|MCF2L_ENST00000375601.3_Silent_p.A901A|MCF2L_ENST00000434480.2_Silent_p.A903A|MCF2L_ENST00000375604.2_Silent_p.A954A|MCF2L_ENST00000442652.2_Silent_p.A927A|MCF2L_ENST00000423482.2_Silent_p.A895A|MCF2L_ENST00000421756.1_Silent_p.A901A|MCF2L_ENST00000375608.3_Silent_p.A927A	p.A930A			O15068	MCF2L_HUMAN			24	2827	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	927			PH.		A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Silent	SNP	ENST00000375608.3	37	c.2790G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.037|0.037	-1.302824|-1.302824	0.01353|0.01353	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000397017;ENST00000453297;ENST00000439475|ENST00000413354;ENST00000261963	T;T;T|.	0.38560|.	1.13;1.13;1.13|.	4.29|4.29	-6.9|-6.9	0.01655|0.01655	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.36496|0.36496	0.0969|0.0969	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.41998|0.41998	-0.9477|-0.9477	7|4	0.87932|.	D|.	0|.	.|.	3.0267|3.0267	0.06094|0.06094	0.4204:0.1144:0.3539:0.1113|0.4204:0.1144:0.3539:0.1113	.|.	.|.	.|.	.|.	T|H	558;52;3|127;68	ENSP00000380212:A558T;ENSP00000392953:A52T;ENSP00000411315:A3T|.	ENSP00000380212:A558T|.	A|R	+|+	1|2	0|0	MCF2L|MCF2L	112790644|112790644	0.084000|0.084000	0.21492|0.21492	0.249000|0.249000	0.24280|0.24280	0.031000|0.031000	0.12232|0.12232	-0.468000|-0.468000	0.06656|0.06656	-0.995000|-0.995000	0.03459|0.03459	-1.166000|-1.166000	0.01754|0.01754	GCC|CGC		0.522	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			5	187	0	0	0	0.001168	0	5	187					A	113742643	G	A	113742643	2	1	5	1	0	0	0	0	0	0	0	1	9379	1074	38	1		1	MCF2L	13	113742643	Silent	SNP	G	TCGA-BJ-A0Z3-01A-11D-A13W-08		113742643	1427235	12	181											
VIPAR	63894	broad.mit.edu	37	chr14	77904217	77904217	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttcaaatgctctcgataaTgagatagctacaaaaagcag	8	7	2	1			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr14:77904217T>C	ENST00000553888.1	-	12	1280	c.770A>G	c.(769-771)cAt>cGt	p.H257R	VIPAS39_ENST00000343765.2_Missense_Mutation_p.H257R|VIPAS39_ENST00000557658.1_Missense_Mutation_p.H257R|VIPAS39_ENST00000448935.2_Missense_Mutation_p.H208R|VIPAS39_ENST00000556412.1_Missense_Mutation_p.H283R|VIPAS39_ENST00000327028.4_Missense_Mutation_p.H244R	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	Q9H9C1	SPE39_HUMAN	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	257					cell differentiation (GO:0030154)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|late endosome (GO:0005770)|recycling endosome (GO:0055037)											CTCTCGATAATGAGATAGCTA	0.348																																						ENST00000553888.1																			0											c.(769-771)cAt>cGt		VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog							94	91	92					14																	77904217		2202	4300	6502	SO:0001583	missense	63894							g.chr14:77904217T>C	AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"VPS33B interacting protein, apical-basolateral polarity regulator"	613401	"chromosome 14 open reading frame 133"	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.770A>G	14.37:g.77904217T>C	ENSP00000452181:p.His257Arg					VIPAS39_ENST00000556412.1_Missense_Mutation_p.H283R|VIPAS39_ENST00000327028.4_Missense_Mutation_p.H244R|VIPAS39_ENST00000343765.2_Missense_Mutation_p.H257R|VIPAS39_ENST00000448935.2_Missense_Mutation_p.H208R|VIPAS39_ENST00000557658.1_Missense_Mutation_p.H257R	p.H257R	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2					12	1280	-								B4DPI6|O95434|Q9H7E1|Q9H9I9	Missense_Mutation	SNP	ENST00000553888.1	37	c.770A>G	CCDS9862.1	.	.	.	.	.	.	.	.	.	.	T	13.10	2.137357	0.37728	.	.	ENSG00000151445	ENST00000343765;ENST00000553888;ENST00000327028;ENST00000557658;ENST00000448935;ENST00000556412	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0	5.61	5.61	0.85477	.	0.099468	0.64402	D	0.000001	T	0.23611	0.0571	N	0.08118	0	0.40078	D	0.976096	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.12578	-1.0542	10	0.11182	T	0.66	-15.9951	15.4512	0.75274	0.0:0.0:0.0:1.0	.	208;257	B4DPI6;Q9H9C1	.;VIPAR_HUMAN	R	257;257;244;257;208;283	ENSP00000339122:H257R;ENSP00000452181:H257R;ENSP00000313098:H244R;ENSP00000452191:H257R;ENSP00000404815:H208R;ENSP00000451857:H283R	ENSP00000313098:H244R	H	-	2	0	VIPAR	76973970	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.376000	0.59556	2.117000	0.64856	0.496000	0.49642	CAT		0.348	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414008.1	NM_022067		4	135	0	0	0	0.000602	0	4	135					C	77904217	T	C	77904217	3	2	5	1	0	0	0	0	1	0	0	0	17165	1464	51	3	747	3	VIPAR	14	77904217	Missense_Mutation	SNP	T	TCGA-BJ-A0Z3-01A-11D-A13W-08		77904217	29445323	13	182											
PLCB2	5330	broad.mit.edu	37	chr15	40585837	40585837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgacagcttagttcgatagCgcctcttggggtccccagga	13	11	1	1			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr15:40585837C>T	ENST00000260402.3	-	20	2399	c.2150G>A	c.(2149-2151)cGc>cAc	p.R717H	PLCB2_ENST00000456256.2_Missense_Mutation_p.R717H|PLCB2_ENST00000557821.1_Missense_Mutation_p.R713H	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	717	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		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;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		AGTTCGATAGCGCCTCTTGGG	0.582																																						ENST00000260402.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39						c.(2149-2151)cGc>cAc		phospholipase C, beta 2							97	103	101					15																	40585837		2008	4189	6197	SO:0001583	missense	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40585837C>T		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.2150G>A	15.37:g.40585837C>T	ENSP00000260402:p.Arg717His					PLCB2_ENST00000456256.2_Missense_Mutation_p.R717H|PLCB2_ENST00000557821.1_Missense_Mutation_p.R713H	p.R717H	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	20	2399	-		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)	717			C2.		A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	c.2150G>A	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488382	0.84854	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.70986	-0.53;-0.53	4.7	4.7	0.59300	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.399468	0.23782	N	0.044605	T	0.75882	0.3910	L	0.58302	1.8	0.80722	D	1	D;P;D	0.71674	0.998;0.472;0.994	P;B;D	0.62955	0.89;0.036;0.909	T	0.77403	-0.2601	10	0.87932	D	0	.	5.5806	0.17248	0.0:0.7611:0.0:0.2388	.	717;713;717	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	H	717	ENSP00000260402:R717H;ENSP00000411991:R717H	ENSP00000260402:R717H	R	-	2	0	PLCB2	38373129	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.952000	0.70282	2.442000	0.82660	0.542000	0.68232	CGC		0.582	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			4	136	0	0	0	0.009096	0	4	136					T	40585837	C	T	40585837	3	4	5	1	0	0	0	0	1	0	0	0	12028	768	27	1	1459	1	PLCB2	15	40585837	Missense_Mutation	SNP	C	TCGA-BJ-A0Z3-01A-11D-A13W-08		40585837	61945555	14	183											
TCEB2	6923	broad.mit.edu	37	chr16	2825510	2825510	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggccgtgctgtttgactggtGaagccacactcgcccagtgt	13	12	0	2			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr16:2825510G>A	ENST00000409906.4	-	3	243	c.186C>T	c.(184-186)ttC>ttT	p.F62F	TCEB2_ENST00000262306.7_Silent_p.F62F|TCEB2_ENST00000572954.1_Intron|TCEB2_ENST00000409477.1_Silent_p.F57F	NM_007108.3	NP_009039.1	Q15370	ELOB_HUMAN	transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B)	62	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein complex assembly (GO:0006461)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|elongin complex (GO:0070449)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|prostate(1)	3						TTTGACTGGTGAAGCCACACT	0.617																																					GBM(141;5215 5962)	ENST00000409477.1																			0				endometrium(2)|prostate(1)	3						c.(169-171)ttC>ttT		transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B)							61	57	59					16																	2825510		2198	4300	6498	SO:0001819	synonymous_variant	6923				positive regulation of viral transcription|protein complex assembly|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|nucleoplasm	protein binding	g.chr16:2825510G>A	L42856	CCDS32374.1, CCDS45387.1	16p12.3	2008-02-05	2002-08-29		ENSG00000103363	ENSG00000103363			11619	protein-coding gene	gene with protein product		600787	"transcription elongation factor B (SIII), polypeptide 2 (18kD, elongin B)"			7638163	Standard	NM_007108		Approved	SIII	uc002crm.3	Q15370	OTTHUMG00000154125	ENST00000409906.4:c.186C>T	16.37:g.2825510G>A						TCEB2_ENST00000409906.4_Silent_p.F62F|TCEB2_ENST00000262306.7_Silent_p.F62F|TCEB2_ENST00000572954.1_Intron	p.F57F			Q15370	ELOB_HUMAN			2	250	-			62			Ubiquitin-like.		B7WPD3	Silent	SNP	ENST00000409906.4	37	c.171C>T	CCDS45387.1																																																																																				0.617	TCEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333975.2	NM_007108		5	31	0	0	0	0.001168	0	5	31					A	2825510	G	A	2825510	2	1	5	1	0	0	0	0	0	0	0	1	15677	1281	45	2		2	TCEB2	16	2825510	Silent	SNP	G	TCGA-BJ-A0Z3-01A-11D-A13W-08		2825510	87529243	15	184											
ABCC6	368	broad.mit.edu	37	chr16	16256941	16256941	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggcctgggttcggaatgCccggaccactgtgctgccct	16	13	0	0	rs63750146		TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr16:16256941C>T	ENST00000205557.7	-	24	3444	c.3415G>A	c.(3415-3417)Gca>Aca	p.A1139T		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1139	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.		A -> T (in PXE; dbSNP:rs63750146). {ECO:0000269|PubMed:17617515}.		response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	GTTCGGAATGCCCGGACCACT	0.582																																						ENST00000205557.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43	GRCh37	CM073973	ABCC6	M	rs63750146	c.(3415-3417)Gca>Aca		ATP-binding cassette, sub-family C (CFTR/MRP), member 6							73	76	75					16																	16256941		2197	4300	6497	SO:0001583	missense	368				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16256941C>T	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"ATP binding cassette transporters / subfamily C"	57	protein-coding gene	gene with protein product		603234	"pseudoxanthoma elasticum"	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.3415G>A	16.37:g.16256941C>T	ENSP00000205557:p.Ala1139Thr						p.A1139T	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	24	3444	-			1139			ABC transmembrane type-1 2.		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	c.3415G>A	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	C	33	5.264369	0.95399	.	.	ENSG00000091262	ENST00000205557	D	0.91843	-2.92	5.42	5.42	0.78866	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.48767	U	0.000164	D	0.97492	0.9179	H	0.95611	3.695	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98490	1.0609	10	0.87932	D	0	.	19.2117	0.93758	0.0:1.0:0.0:0.0	rs63750146	1139	O95255	MRP6_HUMAN	T	1139	ENSP00000205557:A1139T	ENSP00000205557:A1139T	A	-	1	0	ABCC6	16164442	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	7.801000	0.85960	2.520000	0.84964	0.655000	0.94253	GCA		0.582	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			4	156	0	0	0	0.000602	0	4	156					T	16256941	C	T	16256941	3	4	5	1	0	0	0	0	1	0	0	0	57	739	26	2	1128	2	ABCC6	16	16256941	Missense_Mutation	SNP	C	TCGA-BJ-A0Z3-01A-11D-A13W-08	13431431	16256941	74097812	16	185											
C3	718	broad.mit.edu	37	chr19	6682003	6682003	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggagaaggctttgtccagCtcatacttggagatgtatct	11	8	2	2			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr19:6682003C>T	ENST00000245907.6	-	35	4391	c.4299G>A	c.(4297-4299)gaG>gaA	p.E1433E	C3_ENST00000599668.1_5'Flank	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1433	Properdin-binding.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CTTTGTCCAGCTCATACTTGG	0.562																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(4297-4299)gaG>gaA		complement component 3							181	164	170					19																	6682003		2203	4300	6503	SO:0001819	synonymous_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6682003C>T	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4299G>A	19.37:g.6682003C>T							p.E1433E	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	35	4391	-			1433			Properdin-binding.		A7E236	Silent	SNP	ENST00000245907.6	37	c.4299G>A	CCDS32883.1																																																																																				0.562	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		57	169	0	0	0	0.01441	0	57	169					T	6682003	C	T	6682003	2	4	5	1	0	0	0	0	0	0	0	1	2204	796	28	2		2	C3	19	6682003	Silent	SNP	C	TCGA-BJ-A0Z3-01A-11D-A13W-08		6682003	52446980	17	186											
SIN3B	23309	broad.mit.edu	37	chr19	16952630	16952630	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacttcaagcagcaggtgCcgtataaagaggacaaaccc	11	10	1	1			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr19:16952630C>T	ENST00000248054.5	+	4	454	c.433C>T	c.(433-435)Ccg>Tcg	p.P145S	SIN3B_ENST00000379803.1_Missense_Mutation_p.P145S|SIN3B_ENST00000596802.1_Missense_Mutation_p.P145S|CTD-2538G9.5_ENST00000600987.1_RNA					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GCAGCAGGTGCCGTATAAAGA	0.522																																						ENST00000379803.1																			0				endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(433-435)Ccg>Tcg		SIN3 transcription regulator family member B							100	92	95					19																	16952630		2203	4300	6503	SO:0001583	missense	23309				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding	g.chr19:16952630C>T	AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"SIN3 homolog B, transcription regulator (yeast)", "SIN3 transcription regulator homolog B (yeast)"			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.433C>T	19.37:g.16952630C>T	ENSP00000248054:p.Pro145Ser					SIN3B_ENST00000248054.5_Missense_Mutation_p.P145S|SIN3B_ENST00000596802.1_Missense_Mutation_p.P145S	p.P145S	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN			4	447	+			145						Missense_Mutation	SNP	ENST00000248054.5	37	c.433C>T		.	.	.	.	.	.	.	.	.	.	C	15.93	2.979374	0.53827	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.50001	0.76;0.8	5.41	1.99	0.26369	.	0.814419	0.11165	N	0.592609	T	0.29620	0.0739	N	0.25332	0.735	0.09310	N	1	B;B;B	0.13145	0.001;0.0;0.007	B;B;B	0.14023	0.003;0.001;0.01	T	0.25012	-1.0144	10	0.13108	T	0.6	0.8534	6.6648	0.23035	0.0:0.6936:0.1448:0.1616	.	145;145;145	O75182-2;O75182;O75182-3	.;SIN3B_HUMAN;.	S	145	ENSP00000369131:P145S;ENSP00000248054:P145S	ENSP00000248054:P145S	P	+	1	0	SIN3B	16813630	0.041000	0.20044	0.002000	0.10522	0.643000	0.38383	0.989000	0.29629	0.621000	0.30232	0.557000	0.71058	CCG		0.522	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260		4	119	0	0	0	0.000602	0	4	119					T	16952630	C	T	16952630	3	4	5	1	0	0	0	0	1	0	0	0	14326	739	26	2	447	2	SIN3B	19	16952630	Missense_Mutation	SNP	C	TCGA-BJ-A0Z3-01A-11D-A13W-08	10270627	16952630	42176353	18	187											
ZNF616	90317	broad.mit.edu	37	chr19	52618688	52618688	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccgcattcattgcatttgtAaggtttctctccactatgaa	7	10	2	1			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr19:52618688A>G	ENST00000600228.1	-	4	1990	c.1729T>C	c.(1729-1731)Tac>Cac	p.Y577H	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	577					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TTGCATTTGTAAGGTTTCTCT	0.418																																						ENST00000600228.1																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1729-1731)Tac>Cac		zinc finger protein 616							110	95	100					19																	52618688		2203	4300	6503	SO:0001583	missense	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52618688A>G	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"Zinc fingers, C2H2-type", "-"	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.1729T>C	19.37:g.52618688A>G	ENSP00000471000:p.Tyr577His					ZNF616_ENST00000330123.5_3'UTR	p.Y577H	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	1990	-			577					B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	c.1729T>C	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	A	15.70	2.911160	0.52439	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.64	0.544	0.17185	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38931	0.1059	N	0.21324	0.655	0.21697	N	0.999589	D	0.76494	0.999	D	0.72338	0.977	T	0.18935	-1.0321	8	0.59425	D	0.04	.	5.4645	0.16635	0.836:0.0:0.164:0.0	.	577	Q08AN1	ZN616_HUMAN	H	577	.	ENSP00000328722:Y577H	Y	-	1	0	ZNF616	57310500	0.001000	0.12720	0.021000	0.16686	0.333000	0.28666	1.564000	0.36375	-0.052000	0.13311	0.254000	0.18369	TAC		0.418	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		3	77	0	0	0	0.004672	0	3	77					G	52618688	A	G	52618688	3	3	5	1	0	0	0	0	1	0	0	0	18038	362	13	3	620	3	ZNF616	19	52618688	Missense_Mutation	SNP	A	TCGA-BJ-A0Z3-01A-11D-A13W-08	35666058	52618688	6510295	19	188											
RFPL1	5988	broad.mit.edu	37	chr22	29835022	29835022	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggatctactttgctgttgctGttccatggtctctcagaaga	10	9	3	2	rs369425454		TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr22:29835022G>C	ENST00000354373.2	+	1	451	c.242G>C	c.(241-243)tGt>tCt	p.C81S	RFPL1S_ENST00000461286.3_RNA|RFPL1S_ENST00000539579.1_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	81							zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						TGCTGTTGCTGTTCCATGGTC	0.517																																						ENST00000354373.2																			0				endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						c.(241-243)tGt>tCt		ret finger protein-like 1							147	136	139					22																	29835022		2203	4300	6503	SO:0001583	missense	5988						zinc ion binding	g.chr22:29835022G>C	AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"RING-type (C3HC4) zinc fingers"	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.242G>C	22.37:g.29835022G>C	ENSP00000346342:p.Cys81Ser					RFPL1S_ENST00000461286.2_RNA	p.C81S	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN			1	451	+			81					Q6IC06|Q9UJ97	Missense_Mutation	SNP	ENST00000354373.2	37	c.242G>C	CCDS13857.2	.	.	.	.	.	.	.	.	.	.	-	10.66	1.413858	0.25465	.	.	ENSG00000128250	ENST00000354373	T	0.54479	0.57	1.23	1.23	0.21249	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);RDM domain, Ret finger protein-like (1);	.	.	.	.	T	0.55986	0.1955	M	0.62723	1.935	0.09310	N	1	B	0.22276	0.067	B	0.41813	0.367	T	0.57974	-0.7718	9	0.45353	T	0.12	.	6.348	0.21361	0.0:0.0:1.0:0.0	.	81	O75677	RFPL1_HUMAN	S	81	ENSP00000346342:C81S	ENSP00000346342:C81S	C	+	2	0	RFPL1	28165022	0.829000	0.29322	0.002000	0.10522	0.004000	0.04260	3.427000	0.52785	0.579000	0.29504	0.418000	0.28097	TGT		0.517	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	NM_021026		42	151	0	0	0	0.00874	0	42	151					C	29835022	G	C	29835022	3	2	5	1	0	0	0	0	1	0	0	0	13253	1377	48	4	244	4	RFPL1	22	29835022	Missense_Mutation	SNP	G	TCGA-BJ-A0Z3-01A-11D-A13W-08		29835022	21469544	20	189											
AKR7L	246181	broad.mit.edu	37	chr1	19597420	19597420	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccatggattggccttggtaGcaattttcactgagaggaaa	11	7	1	1	rs12046875	byFrequency	TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr1:19597420G>T	ENST00000429712.1	-	0	343				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						GGCCTTGGTAGCAATTTTCAC	0.532													g|||	828	0.165335	0.1135	0.1499	5008	,	,		18451	0.1607		0.1998	False		,,,				2504	0.2157					ENST00000420396.2																			0				breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6								aldo-keto reductase family 7-like				181,1203		17,147,528	38	33	35			3.0	0.9	1	dbSNP_120	35	601,2581		58,485,1048	no	intergenic				75,632,1576	TT,TG,GG		18.8875,13.078,17.1266			19597420	782,3784	692	1591	2283			246181							g.chr1:19597420G>T			1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19597420G>T						AKR7L_ENST00000429712.1_RNA								0	223	-								Q5U614	RNA	SNP	ENST00000429712.1	37			350|350	0.16025641025641027|0.16025641025641027	55|55	0.11178861788617886|0.11178861788617886	51|51	0.1408839779005525|0.1408839779005525	85|85	0.1486013986013986|0.1486013986013986	159|159	0.20976253298153033|0.20976253298153033	G|G	15.44|15.44	2.835096|2.835096	0.50951|0.50951	0.13078|0.13078	0.188875|0.188875	ENSG00000211454|ENSG00000211454	ENST00000429712;ENST00000388886|ENST00000457194	.|.	.|.	.|.	3.93|3.93	3.01|3.01	0.34805|0.34805	NADP-dependent oxidoreductase domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.00073|0.00073	0.0002|0.0002	.|.	.|.	.|.	0.09310|0.09310	P|P	1.0|1.0	B;B|.	0.22276|.	0.017;0.067|.	B;P|.	0.47470|.	0.041;0.548|.	T|T	0.06445|0.06445	-1.0826|-1.0826	7|3	0.42905|.	T|.	0.14|.	.|.	11.9855|11.9855	0.53145|0.53145	0.0:0.0:0.8252:0.1748|0.0:0.0:0.8252:0.1748	rs12046875;rs52804162;rs12046875|rs12046875;rs52804162;rs12046875	75;75|.	F8W7D9;Q8NHP1|.	.;ARK74_HUMAN|.	D|I	75|31	.|.	ENSP00000373538:A75D|.	A|L	-|-	2|1	0|2	AKR7L|AKR7L	19470007|19470007	1.000000|1.000000	0.71417|0.71417	0.906000|0.906000	0.35671|0.35671	0.406000|0.406000	0.30931|0.30931	7.099000|7.099000	0.76981|0.76981	1.001000|1.001000	0.39076|0.39076	-0.277000|-0.277000	0.10078|0.10078	GCT|CTA		0.532	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		3	34	1	0	0.00024832	1	0.000261054	3	34					T	19597420	G	T	19597420	1	4	6	0	1	0	0	0	0	0	0	0	477	971	34	4		4	AKR7L	1	19597420	RNA	SNP	G	TCGA-BJ-A0Z9-01A-11D-A10S-08		19597420	229653201	1	190											
VCAM1	7412	broad.mit.edu	37	chr1	101198098	101198098	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atcctgtggagcaggcagctCcctaacggggagctacagcc	13	13	0	0			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr1:101198098C>A	ENST00000294728.2	+	7	1751	c.1650C>A	c.(1648-1650)ctC>ctA	p.L550L	VCAM1_ENST00000347652.2_Silent_p.L458L|VCAM1_ENST00000370119.4_Silent_p.L488L|VCAM1_ENST00000370115.1_Silent_p.L351L	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	550	Ig-like C2-type 6.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GCAGGCAGCTCCCTAACGGGG	0.478																																						ENST00000294728.2																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1648-1650)ctC>ctA		vascular cell adhesion molecule 1	Carvedilol(DB01136)						43	47	46					1																	101198098		2203	4300	6503	SO:0001819	synonymous_variant	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101198098C>A	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.1650C>A	1.37:g.101198098C>A						VCAM1_ENST00000370115.1_Silent_p.L351L|VCAM1_ENST00000370119.4_Silent_p.L488L|VCAM1_ENST00000347652.2_Silent_p.L458L	p.L550L	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	7	1751	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	550			Ig-like C2-type 6.		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Silent	SNP	ENST00000294728.2	37	c.1650C>A	CCDS773.1																																																																																				0.478	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		8	56	1	0	0.00307968	1	0.00315667	8	56					A	101198098	C	A	101198098	2	1	6	1	0	0	0	0	0	0	0	1	17134	842	30	4		4	VCAM1	1	101198098	Silent	SNP	C	TCGA-BJ-A0Z9-01A-11D-A10S-08	81600678	101198098	148052523	2	191											
SLC26A9	115019	broad.mit.edu	37	chr1	205892719	205892719	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aatgtcagtgtccatgacctGggccagtgcatagccatttc	10	11	1	1			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr1:205892719G>C	ENST00000367135.3	-	14	1632	c.1519C>G	c.(1519-1521)Cag>Gag	p.Q507E	SLC26A9_ENST00000367134.2_Missense_Mutation_p.Q507E|SLC26A9_ENST00000340781.4_Missense_Mutation_p.Q507E	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	507					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)	p.Q507K(1)		NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TCCATGACCTGGGCCAGTGCA	0.493																																						ENST00000367135.3																			1	Substitution - Missense(1)	p.Q507K(1)	breast(1)	NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52						c.(1519-1521)Cag>Gag		solute carrier family 26 (anion exchanger), member 9							113	103	106					1																	205892719		2203	4300	6503	SO:0001583	missense	115019					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205892719G>C	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"Solute carriers"	14469	protein-coding gene	gene with protein product	"anion transporter/exchanger-9"	608481	"solute carrier family 26, member 9"			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.1519C>G	1.37:g.205892719G>C	ENSP00000356103:p.Gln507Glu					SLC26A9_ENST00000367134.2_Missense_Mutation_p.Q507E|SLC26A9_ENST00000340781.4_Missense_Mutation_p.Q507E	p.Q507E	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		14	1632	-	Breast(84;0.201)		507					A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	ENST00000367135.3	37	c.1519C>G	CCDS30990.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.314738	0.60524	.	.	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.92647	-3.08;-3.06;-3.08	5.62	5.62	0.85841	.	0.137761	0.48286	D	0.000182	D	0.92153	0.7512	M	0.81942	2.565	0.48135	D	0.999591	B;B	0.34015	0.199;0.435	B;B	0.30179	0.061;0.112	D	0.92050	0.5647	10	0.66056	D	0.02	.	18.227	0.89921	0.0:0.0:1.0:0.0	.	507;507	Q7LBE3;B1AVM8	S26A9_HUMAN;.	E	507	ENSP00000341682:Q507E;ENSP00000356103:Q507E;ENSP00000356102:Q507E	ENSP00000341682:Q507E	Q	-	1	0	SLC26A9	204159342	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.456000	0.73501	2.625000	0.88918	0.655000	0.94253	CAG		0.493	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		16	28	0	0	0	1	0	16	28					C	205892719	G	C	205892719	3	2	6	1	0	0	0	0	1	0	0	0	14524	1357	47	4	1184	4	SLC26A9	1	205892719	Missense_Mutation	SNP	G	TCGA-BJ-A0Z9-01A-11D-A10S-08	104694621	205892719	43357902	3	192											
APOB	338	broad.mit.edu	37	chr2	21230694	21230694	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atcatgcctcccagtaaactCtgccttcccttctccaaaca	3	17	3	0			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr2:21230694C>A	ENST00000233242.1	-	26	9173	c.9046G>T	c.(9046-9048)Gag>Tag	p.E3016*		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3016					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGTAAACTCTGCCTTCCCT	0.423																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(9046-9048)Gag>Tag		apolipoprotein B	Atorvastatin(DB01076)						65	68	67					2																	21230694		2203	4300	6503	SO:0001587	stop_gained	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21230694C>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.9046G>T	2.37:g.21230694C>A	ENSP00000233242:p.Glu3016*						p.E3016*	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	9173	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3016					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Nonsense_Mutation	SNP	ENST00000233242.1	37	c.9046G>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	50	16.465662	0.99864	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	.	.	.	5.87	4.95	0.65309	.	0.107337	0.41294	D	0.000910	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	10.8027	0.46497	0.0:0.797:0.1327:0.0703	.	.	.	.	X	3016	.	ENSP00000233242:E3016X	E	-	1	0	APOB	21084199	0.992000	0.36948	0.856000	0.33681	0.927000	0.56198	3.246000	0.51414	2.780000	0.95670	0.655000	0.94253	GAG		0.423	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			20	46	1	0	1.56452e-12	1	1.78182e-12	20	46					A	21230694	C	A	21230694	4	1	6	1	0	0	0	0	0	1	0	0	785	922	32	4	4661	4	APOB	2	21230694	Nonsense_Mutation	SNP	C	TCGA-BJ-A0Z9-01A-11D-A10S-08		21230694	221968679	4	193											
PTH2R	5746	broad.mit.edu	37	chr2	209302540	209302540	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggattttatgcacagcttAaataaaacatgggccaatta	8	6	0	0			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr2:209302540A>C	ENST00000272847.2	+	4	558	c.345A>C	c.(343-345)ttA>ttC	p.L115F	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	115					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	TGCACAGCTTAAATAAAACAT	0.413																																						ENST00000272847.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(343-345)ttA>ttC		parathyroid hormone 2 receptor							89	87	88					2																	209302540		2203	4300	6503	SO:0001583	missense	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209302540A>C	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"GPCR / Class B : Parathyroid hormone receptors"	9609	protein-coding gene	gene with protein product		601469	"parathyroid hormone receptor 2"	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.345A>C	2.37:g.209302540A>C	ENSP00000272847:p.Leu115Phe					PTH2R_ENST00000413482.1_3'UTR	p.L115F	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	4	558	+			115					Q8N429	Missense_Mutation	SNP	ENST00000272847.2	37	c.345A>C	CCDS2383.1	.	.	.	.	.	.	.	.	.	.	A	10.47	1.359310	0.24598	.	.	ENSG00000144407	ENST00000272847	T	0.37915	1.17	5.25	1.47	0.22746	GPCR, family 2, extracellular hormone receptor domain (3);	0.188116	0.25017	N	0.033784	T	0.37320	0.0999	L	0.51422	1.61	0.28412	N	0.918153	P;P	0.45634	0.863;0.844	P;P	0.52267	0.556;0.694	T	0.17440	-1.0369	10	0.32370	T	0.25	.	5.3198	0.15876	0.6867:0.1499:0.1634:0.0	.	4;115	B4DFN8;P49190	.;PTH2R_HUMAN	F	115	ENSP00000272847:L115F	ENSP00000272847:L115F	L	+	3	2	PTH2R	209010785	0.915000	0.31059	0.993000	0.49108	0.780000	0.44128	0.720000	0.25896	0.071000	0.16664	0.383000	0.25322	TTA		0.413	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		8	53	0	0	0	1	0	8	53					C	209302540	A	C	209302540	3	2	6	1	0	0	0	0	1	0	0	0	12760	359	13	5	359	5	PTH2R	2	209302540	Missense_Mutation	SNP	A	TCGA-BJ-A0Z9-01A-11D-A10S-08	188071846	209302540	33896833	5	194											
DBR1	51163	broad.mit.edu	37	chr3	137886109	137886109	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taatgatatatacttcttggCcaatcatgagacaagaatat	6	6	2	3			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr3:137886109C>A	ENST00000260803.4	-	5	681	c.528G>T	c.(526-528)tgG>tgT	p.W176C	DBR1_ENST00000505015.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	176					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TACTTCTTGGCCAATCATGAG	0.328																																						ENST00000260803.4																			0				NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(526-528)tgG>tgT		debranching RNA lariats 1							49	53	52					3																	137886109		2203	4300	6503	SO:0001583	missense	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137886109C>A	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"debranching enzyme (S. Cerevisiae) homolog 1", "debranching enzyme homolog 1 (S. cerevisiae)"			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.528G>T	3.37:g.137886109C>A	ENSP00000260803:p.Trp176Cys					DBR1_ENST00000505015.2_5'UTR	p.W176C	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN			5	681	-			176					Q96GH0|Q9NXQ6	Missense_Mutation	SNP	ENST00000260803.4	37	c.528G>T	CCDS33863.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129842	0.77549	.	.	ENSG00000138231	ENST00000260803	T	0.47528	0.84	5.28	5.28	0.74379	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.80717	0.4676	H	0.98133	4.155	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88022	0.2769	10	0.87932	D	0	-29.0773	16.4145	0.83729	0.0:1.0:0.0:0.0	.	176	Q9UK59	DBR1_HUMAN	C	176	ENSP00000260803:W176C	ENSP00000260803:W176C	W	-	3	0	DBR1	139368799	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.467000	0.83353	0.650000	0.86243	TGG		0.328	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1			3	34	1	0	0.115264	1	0.115264	3	34					A	137886109	C	A	137886109	3	1	6	1	0	0	0	0	1	0	0	0	4257	740	26	4	1122	4	DBR1	3	137886109	Missense_Mutation	SNP	C	TCGA-BJ-A0Z9-01A-11D-A10S-08		137886109	60136321	6	195											
PDZD2	23037	broad.mit.edu	37	chr5	32087441	32087441	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccctccccgggggagaaagCagcggctccccctgactaca	11	18	0	2			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr5:32087441C>A	ENST00000438447.1	+	20	4275	c.3887C>A	c.(3886-3888)gCa>gAa	p.A1296E	PDZD2_ENST00000282493.3_Missense_Mutation_p.A1296E			O15018	PDZD2_HUMAN	PDZ domain containing 2	1296					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGGGAGAAAGCAGCGGCTCCC	0.652																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(3886-3888)gCa>gAa		PDZ domain containing 2							54	63	60					5																	32087441		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32087441C>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.3887C>A	5.37:g.32087441C>A	ENSP00000402033:p.Ala1296Glu					PDZD2_ENST00000282493.3_Missense_Mutation_p.A1296E	p.A1296E			O15018	PDZD2_HUMAN			20	4275	+			1296					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.3887C>A	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.791997	0.50102	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.08546	3.08;3.08	3.69	2.82	0.32997	.	0.558311	0.14980	N	0.287305	T	0.12135	0.0295	L	0.50333	1.59	0.09310	N	1	D	0.54047	0.964	P	0.50314	0.637	T	0.11348	-1.0591	10	0.40728	T	0.16	.	7.0641	0.25141	0.0:0.8765:0.0:0.1235	.	1296	O15018	PDZD2_HUMAN	E	1296;1097;1296	ENSP00000402033:A1296E;ENSP00000282493:A1296E	ENSP00000282493:A1296E	A	+	2	0	PDZD2	32123198	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.423000	0.21313	1.124000	0.41980	0.655000	0.94253	GCA		0.652	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			26	55	1	0	1.85244e-09	1	2.05271e-09	26	55					A	32087441	C	A	32087441	3	1	6	1	0	0	0	0	1	0	0	0	11701	710	25	4	3961	4	PDZD2	5	32087441	Missense_Mutation	SNP	C	TCGA-BJ-A0Z9-01A-11D-A10S-08		32087441	148827819	7	196											
ANKRD43	134548	broad.mit.edu	37	chr5	132150581	132150581	+	Frame_Shift_Del	DEL	A	A	-													tcacagcgggcgtcgcgcctAccagtacctgcggcccggct							TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr5:132150581delA	ENST00000378693.2	+	1	1549	c.1268delA	c.(1267-1269)tacfs	p.Y423fs	AC004775.5_ENST00000607389.1_lincRNA	NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	423																	CGTCGCGCCTACCAGTACCTG	0.701																																						ENST00000378693.2																			0											c.(1267-1269)tcfs		sosondowah ankyrin repeat domain family member A																																				SO:0001589	frameshift_variant	134548							g.chr5:132150581delA	AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"Ankyrin repeat domain containing"	27033	protein-coding gene	gene with protein product			"ankyrin repeat domain 43"	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.1268delA	5.37:g.132150581delA	ENSP00000367965:p.Tyr423fs						p.Y423fs	NM_175873.4	NP_787069.3	Q2M3V2	ANR43_HUMAN			1	1549	+			423					Q8NAE7	Frame_Shift_Del	DEL	ENST00000378693.2	37	c.1268delA	CCDS43361.1																																																																																				0.701	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133062.1	NM_175873		2	4						2	4	---	---	---	---	-	132150581	A	-	132150581	7	5	6	1	0	1	0	1	0	0	0	0	671	391	14	0	1270	0	ANKRD43	5	132150581	Frame_Shift_Del	DEL	A	TCGA-BJ-A0Z9-01A-11D-A10S-08	100063140	132150581	48764679	8	197											
SOX4	6659	broad.mit.edu	37	chr6	21595252	21595263	+	In_Frame_Del	DEL	GGGGGCGGCCAT	GGGGGCGGCCAT	-													acaaggtcggtggcagtggcGggggcggccatgggggcggc					rs542004893	byFrequency	TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr6:21595252_21595263delGGGGGCGGCCAT	ENST00000244745.1	+	1	1281_1292	c.487_498delGGGGGCGGCCAT	c.(487-498)gggggcggccatdel	p.GGGH163del	SOX4_ENST00000543472.1_In_Frame_Del_p.GGGH163del	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	163					ascending aorta morphogenesis (GO:0035910)|atrial septum primum morphogenesis (GO:0003289)|canonical Wnt signaling pathway (GO:0060070)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle formation (GO:0003211)|cellular response to glucose stimulus (GO:0071333)|DNA damage response, detection of DNA damage (GO:0042769)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endocrine pancreas development (GO:0031018)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|kidney morphogenesis (GO:0060993)|limb bud formation (GO:0060174)|mitral valve morphogenesis (GO:0003183)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|noradrenergic neuron differentiation (GO:0003357)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin secretion (GO:0032024)|positive regulation of N-terminal peptidyl-lysine acetylation (GO:2000761)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of Wnt signaling pathway (GO:0030177)|pro-B cell differentiation (GO:0002328)|protein stabilization (GO:0050821)|regulation of protein stability (GO:0031647)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spinal cord development (GO:0021510)|spinal cord motor neuron differentiation (GO:0021522)|sympathetic nervous system development (GO:0048485)|T cell differentiation (GO:0030217)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|nucleic acid binding transcription factor activity (GO:0001071)|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 transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			tggcagtggcgggggcggccatgggggcggcg	0.731																																						ENST00000244745.1																			0				kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6						c.(487-498)del		SRY (sex determining region Y)-box 4				11,3129		5,1,1564						2.5	1.0			5	40,6808		7,26,3391	no	coding	SOX4	NM_003107.2		12,27,4955	A1A1,A1R,RR		0.5841,0.3503,0.5106				51,9937				SO:0001651	inframe_deletion	6659				canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity	g.chr6:21595252_21595263delGGGGGCGGCCAT	AF070669	CCDS4547.1	6p22.3	2008-02-05			ENSG00000124766	ENSG00000124766		"SRY (sex determining region Y)-boxes"	11200	protein-coding gene	gene with protein product		184430				8268656, 9730625	Standard	NM_003107		Approved		uc003ndi.3	Q06945	OTTHUMG00000016101	ENST00000244745.1:c.487_498delGGGGGCGGCCAT	6.37:g.21595252_21595263delGGGGGCGGCCAT	ENSP00000244745:p.Gly163_His166del					SOX4_ENST00000543472.1_In_Frame_Del_p.GGGH163del	p.GGGH163del	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	all cancers(50;0.0751)|Epithelial(50;0.155)		1	1281_1292	+	Ovarian(93;0.163)		163						In_Frame_Del	DEL	ENST00000244745.1	37	c.487_498delGGGGGCGGCCAT	CCDS4547.1																																																																																				0.731	SOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043301.1	NM_003107		4	2						4	2	---	---	---	---	-	21595263	GGGGGCGGCCAT	-	21595252	7	5	6	1	0	1	0	1	0	0	0	0	14953	1116	39	0	489	0	SOX4	6	21595252	In_Frame_Del	DEL	GGGGGCGGCCAT	TCGA-BJ-A0Z9-01A-11D-A10S-08		21595252	149519815	9	198											
SPATS1	221409	broad.mit.edu	37	chr6	44336175	44336175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgacaatccatatatgtacCcagaacagagtaaaggcttc	8	10	0	2			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr6:44336175C>T	ENST00000288390.2	+	5	981	c.634C>T	c.(634-636)Cca>Tca	p.P212S	SPATS1_ENST00000323108.8_Missense_Mutation_p.P212S|RP11-444E17.6_ENST00000505802.1_3'UTR			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	212										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATATATGTACCCAGAACAGAG	0.378																																						ENST00000288390.2																			0				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14						c.(634-636)Cca>Tca		spermatogenesis associated, serine-rich 1							122	118	119					6																	44336175		2203	4300	6503	SO:0001583	missense	221409							g.chr6:44336175C>T	AK058171	CCDS4911.1	6p21.1	2003-08-08			ENSG00000249481	ENSG00000249481			22957	protein-coding gene	gene with protein product							Standard	NM_145026		Approved	SPATA8, FLJ25442, SRSP1	uc021yzz.1	Q496A3	OTTHUMG00000014764	ENST00000288390.2:c.634C>T	6.37:g.44336175C>T	ENSP00000424400:p.Pro212Ser					SPATS1_ENST00000323108.8_Missense_Mutation_p.P212S	p.P212S			Q496A3	SPAS1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		5	981	+	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		212					Q496A2|Q496A5|Q96LJ0	Missense_Mutation	SNP	ENST00000288390.2	37	c.634C>T	CCDS4911.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378426	0.61735	.	.	ENSG00000249481	ENST00000323108;ENST00000288390	T;T	0.51817	0.69;0.69	5.11	2.32	0.28847	.	0.128413	0.35262	N	0.003334	T	0.47377	0.1442	M	0.63843	1.955	0.29176	N	0.876792	D	0.89917	1.0	D	0.91635	0.999	T	0.35943	-0.9768	10	0.59425	D	0.04	.	7.9125	0.29800	0.0:0.7222:0.0:0.2778	.	212	Q496A3	SPAS1_HUMAN	S	212	ENSP00000437552:P212S;ENSP00000424400:P212S	ENSP00000424400:P212S	P	+	1	0	SPATS1	44444153	0.780000	0.28664	0.995000	0.50966	0.963000	0.63663	0.811000	0.27198	0.662000	0.31006	0.655000	0.94253	CCA		0.378	SPATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040738.2	NM_145026		11	47	0	0	0	1	0	11	47					T	44336175	C	T	44336175	3	4	6	1	0	0	0	0	1	0	0	0	15017	623	22	2	652	2	SPATS1	6	44336175	Missense_Mutation	SNP	C	TCGA-BJ-A0Z9-01A-11D-A10S-08	22740923	44336175	126778892	10	199											
AIM1	202	broad.mit.edu	37	chr6	106968615	106968615	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaccggctttacatttgAtgcagaaccttgacacaaaa	7	10	1	3			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr6:106968615A>T	ENST00000369066.3	+	2	2795	c.2308A>T	c.(2308-2310)Atg>Ttg	p.M770L		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TTTACATTTGATGCAGAACCT	0.453																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(2308-2310)Atg>Ttg		absent in melanoma 1							78	77	77					6																	106968615		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106968615A>T	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"suppression of tumorigenicity 4", "beta-gamma crystallin domain containing 1"	601797	"suppression of tumorigenicity 4 (malignant melanoma)"	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.2308A>T	6.37:g.106968615A>T	ENSP00000358062:p.Met770Leu						p.M770L	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	2	2795	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	770					Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.2308A>T	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	A	9.601	1.128696	0.21041	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.69926	-0.44	5.97	0.564	0.17302	.	0.939589	0.09121	N	0.845727	T	0.23330	0.0564	N	0.16656	0.425	0.58432	D	0.999992	B	0.02656	0.0	B	0.04013	0.001	T	0.30327	-0.9982	10	0.08599	T	0.76	.	7.905	0.29757	0.4754:0.3177:0.0:0.207	.	770	Q9Y4K1	AIM1_HUMAN	L	1178;770	ENSP00000358062:M770L	ENSP00000285105:M1178L	M	+	1	0	AIM1	107075308	0.996000	0.38824	0.957000	0.39632	0.898000	0.52572	0.524000	0.22940	0.491000	0.27793	0.533000	0.62120	ATG		0.453	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			38	47	0	0	0	1	0	38	47					T	106968615	A	T	106968615	3	4	6	1	0	0	0	0	1	0	0	0	430	333	12	5	2314	5	AIM1	6	106968615	Missense_Mutation	SNP	A	TCGA-BJ-A0Z9-01A-11D-A10S-08	62632440	106968615	64146452	11	200											
TAX1BP1	8887	broad.mit.edu	37	chr7	27856087	27856087	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tatgttctcacattgtcaaaTgcacaaccagttctgcaata	5	10	3	0			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr7:27856087T>A	ENST00000396319.2	+	14	1972	c.1884T>A	c.(1882-1884)aaT>aaA	p.N628K	TAX1BP1_ENST00000433216.2_Intron|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.N652K|TAX1BP1_ENST00000265393.6_Intron|TAX1BP1_ENST00000543117.1_Intron	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	628					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			CATTGTCAAATGCACAACCAG	0.378																																						ENST00000396319.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1882-1884)aaT>aaA		Tax1 (human T-cell leukemia virus type I) binding protein 1							160	156	157					7																	27856087		2203	4300	6503	SO:0001583	missense	8887				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	g.chr7:27856087T>A	U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.1884T>A	7.37:g.27856087T>A	ENSP00000379612:p.Asn628Lys					TAX1BP1_ENST00000433216.2_Intron|TAX1BP1_ENST00000265393.6_Intron|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.N652K|TAX1BP1_ENST00000543117.1_Intron	p.N628K	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	GBM - Glioblastoma multiforme(3;0.0823)		14	1972	+			628					B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Missense_Mutation	SNP	ENST00000396319.2	37	c.1884T>A	CCDS5415.1	.	.	.	.	.	.	.	.	.	.	T	0.969	-0.700815	0.03279	.	.	ENSG00000106052	ENST00000409980;ENST00000396319	T;T	0.09073	3.04;3.02	5.84	4.7	0.59300	.	1.179470	0.06322	N	0.704571	T	0.08492	0.0211	L	0.29908	0.895	0.35269	D	0.780269	B	0.02656	0.0	B	0.08055	0.003	T	0.15435	-1.0437	9	.	.	.	0.6194	11.3192	0.49410	0.0:0.0705:0.0:0.9295	.	628	Q86VP1	TAXB1_HUMAN	K	652;628	ENSP00000386515:N652K;ENSP00000379612:N628K	.	N	+	3	2	TAX1BP1	27822612	0.020000	0.18652	0.069000	0.20011	0.582000	0.36321	1.655000	0.37345	2.232000	0.73038	0.533000	0.62120	AAT		0.378	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	NM_006024		37	73	0	0	0	1	0	37	73					A	27856087	T	A	27856087	3	1	6	1	0	0	0	0	1	0	0	0	15591	1461	51	5	1934	5	TAX1BP1	7	27856087	Missense_Mutation	SNP	T	TCGA-BJ-A0Z9-01A-11D-A10S-08		27856087	131282576	12	201											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		20	44	0	0	0	1	0	20	44					T	140453136	A	T	140453136	3	4	6	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A0Z9-01A-11D-A10S-08	112597049	140453136	18685527	13	202											
ZNF467	168544	broad.mit.edu	37	chr7	149463284	149463284	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gacctcctcttctgcctcctGatcttcgtcctccaccttca	4	19	4	1			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr7:149463284G>A	ENST00000302017.3	-	5	720	c.307C>T	c.(307-309)Cag>Tag	p.Q103*	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	103					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCTGCCTCCTGATCTTCGTCC	0.542																																						ENST00000302017.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13						c.(307-309)Cag>Tag		zinc finger protein 467							114	96	102					7																	149463284		2203	4300	6503	SO:0001587	stop_gained	168544				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149463284G>A	BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"Zinc fingers, C2H2-type"	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.307C>T	7.37:g.149463284G>A	ENSP00000304769:p.Gln103*					ZNF467_ENST00000484747.1_Intron	p.Q103*	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		5	720	-	Melanoma(164;0.165)|Ovarian(565;0.177)		103						Nonsense_Mutation	SNP	ENST00000302017.3	37	c.307C>T	CCDS5899.1	.	.	.	.	.	.	.	.	.	.	g	38	6.699744	0.97772	.	.	ENSG00000181444	ENST00000302017	.	.	.	4.57	2.44	0.29823	.	0.937050	0.08641	U	0.915489	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-6.6904	3.8069	0.08780	0.0928:0.1631:0.5762:0.1679	.	.	.	.	X	103	.	ENSP00000304769:Q103X	Q	-	1	0	ZNF467	149094217	0.001000	0.12720	0.994000	0.49952	0.968000	0.65278	0.889000	0.28282	2.074000	0.62210	0.552000	0.68991	CAG		0.542	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336		19	28	0	0	0	1	0	19	28					A	149463284	G	A	149463284	4	1	6	1	0	0	0	0	0	1	0	0	17924	1299	45	2	1484	2	ZNF467	7	149463284	Nonsense_Mutation	SNP	G	TCGA-BJ-A0Z9-01A-11D-A10S-08	9010148	149463284	9675379	14	203											
KIAA1967	57805	broad.mit.edu	37	chr8	22476665	22476665	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tccttctccaccttgcagagGagagccataaccgtttctca	7	14	2	2			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr8:22476665G>T	ENST00000308511.4	+	20	2773	c.2524G>T	c.(2524-2526)Gag>Tag	p.E842*	RP11-582J16.5_ENST00000521025.1_RNA|BIN3_ENST00000519335.1_5'Flank|CCAR2_ENST00000389279.3_Nonsense_Mutation_p.E842*|CCAR2_ENST00000520861.1_Nonsense_Mutation_p.E517*			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	842	Interaction with NR1D1. {ECO:0000269|PubMed:23398316}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										CCTTGCAGAGGAGAGCCATAA	0.617																																						ENST00000308511.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25						c.(2524-2526)Gag>Tag									19	19	19					8																	22476665		2200	4299	6499	SO:0001587	stop_gained	0				apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity	g.chr8:22476665G>T	AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"deleted in breast cancer"	607359	"KIAA1967"	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.2524G>T	8.37:g.22476665G>T	ENSP00000310670:p.Glu842*					KIAA1967_ENST00000389279.3_Nonsense_Mutation_p.E842*|KIAA1967_ENST00000520861.1_Nonsense_Mutation_p.E517*	p.E842*			Q8N163	K1967_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	20	2773	+		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	842					A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Nonsense_Mutation	SNP	ENST00000308511.4	37	c.2524G>T	CCDS34863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	44|44	10.624880|10.624880	0.99439|0.99439	.|.	.|.	ENSG00000158941|ENSG00000158941	ENST00000308511;ENST00000389279;ENST00000520861|ENST00000520738	.|.	.|.	.|.	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	0.141007|.	0.48286|.	D|.	0.000185|.	.|T	.|0.69735	.|0.3144	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.67233	.|-0.5722	.|4	0.37606|.	T|.	0.19|.	-28.3095|-28.3095	14.2988|14.2988	0.66331|0.66331	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|S	842;842;517|533	.|.	ENSP00000310670:E842X|.	E|R	+|+	1|3	0|2	KIAA1967|KIAA1967	22532610|22532610	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.823000|0.823000	0.46562|0.46562	5.513000|5.513000	0.67037|0.67037	2.752000|2.752000	0.94435|0.94435	0.655000|0.655000	0.94253|0.94253	GAG|AGG		0.617	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	NM_021174		5	15	1	0	1.23904e-05	1	1.33686e-05	5	15					T	22476665	G	T	22476665	4	4	6	1	0	0	0	0	0	1	0	0	8265	1175	41	4	2598	4	KIAA1967	8	22476665	Nonsense_Mutation	SNP	G	TCGA-BJ-A0Z9-01A-11D-A10S-08		22476665	123887357	15	204											
PXDNL	137902	broad.mit.edu	37	chr8	52339273	52339273	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatgtttatattctttccaAcctcgacacttgtatcctga	4	10	1	1			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr8:52339273A>G	ENST00000356297.4	-	13	1671	c.1571T>C	c.(1570-1572)gTt>gCt	p.V524A	PXDNL_ENST00000543296.1_Missense_Mutation_p.V524A	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	524	Ig-like C2-type 4.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ATTCTTTCCAACCTCGACACT	0.338																																						ENST00000356297.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(1570-1572)gTt>gCt		peroxidasin homolog (Drosophila)-like							120	107	111					8																	52339273		1859	4108	5967	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52339273A>G		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1571T>C	8.37:g.52339273A>G	ENSP00000348645:p.Val524Ala					PXDNL_ENST00000543296.1_Missense_Mutation_p.V524A	p.V524A	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			13	1671	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	524			Ig-like C2-type 4.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.1571T>C	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	A	0.015	-1.548349	0.00926	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.77358	-1.09;-1.09	4.18	0.309	0.15820	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63651	0.2529	L	0.33339	1.005	0.19300	N	0.999974	B	0.21753	0.06	B	0.29353	0.101	T	0.47861	-0.9084	9	0.15066	T	0.55	.	6.3655	0.21453	0.6669:0.0:0.3331:0.0	.	524	A1KZ92	PXDNL_HUMAN	A	524	ENSP00000348645:V524A;ENSP00000444865:V524A	ENSP00000348645:V524A	V	-	2	0	PXDNL	52501826	0.016000	0.18221	0.040000	0.18447	0.014000	0.08584	-0.085000	0.11250	-0.123000	0.11745	-0.263000	0.10527	GTT		0.338	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		3	5	0	0	0	1	0	3	5					G	52339273	A	G	52339273	3	3	6	1	0	0	0	0	1	0	0	0	12848	43	2	3	2864	3	PXDNL	8	52339273	Missense_Mutation	SNP	A	TCGA-BJ-A0Z9-01A-11D-A10S-08	29862608	52339273	94024749	16	205											
PLEC	5339	broad.mit.edu	37	chr8	144994984	144994984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcgcacagagcgctcacctCgctgcagctgctggtagagc	12	15	1	2			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr8:144994984C>T	ENST00000322810.4	-	32	9585	c.9416G>A	c.(9415-9417)cGa>cAa	p.R3139Q	PLEC_ENST00000398774.2_Missense_Mutation_p.R2970Q|PLEC_ENST00000527096.1_Missense_Mutation_p.R3025Q|PLEC_ENST00000354589.3_Missense_Mutation_p.R3002Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R3029Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R3002Q|PLEC_ENST00000354958.2_Missense_Mutation_p.R2980Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R3006Q|PLEC_ENST00000356346.3_Missense_Mutation_p.R2988Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3139	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						GCGCTCACCTCGCTGCAGCTG	0.687																																						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.(9415-9417)cGa>cAa		plectin							20	24	23					8																	144994984		2057	4163	6220	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.chr8:144994984C>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.9416G>A	8.37:g.144994984C>T	ENSP00000323856:p.Arg3139Gln					PLEC_ENST00000354589.3_Missense_Mutation_p.R3002Q|PLEC_ENST00000356346.3_Missense_Mutation_p.R2988Q|PLEC_ENST00000527096.1_Missense_Mutation_p.R3025Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R3029Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R3006Q|PLEC_ENST00000398774.2_Missense_Mutation_p.R2970Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R3002Q|PLEC_ENST00000354958.2_Missense_Mutation_p.R2980Q	p.R3139Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	9585	-			3139			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.9416G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	4.521	0.096753	0.08681	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	4.6	-6.59	0.01830	.	0.750881	0.11464	N	0.561429	T	0.20210	0.0486	N	0.00325	-1.645	0.09310	N	1	B;B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.0;0.0;0.001;0.0	B;B;B;B;B;B;B;B	0.04013	0.001;0.001;0.001;0.0;0.001;0.001;0.001;0.001	T	0.36672	-0.9738	10	0.10902	T	0.67	.	5.0996	0.14753	0.0987:0.2079:0.0986:0.5948	.	3029;2988;2980;3139;2970;3002;3006;3002	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	3002;3006;3002;2970;3139;2980;2988;3029;3025	ENSP00000344848:R3002Q;ENSP00000350277:R3006Q;ENSP00000346602:R3002Q;ENSP00000381756:R2970Q;ENSP00000323856:R3139Q;ENSP00000347044:R2980Q;ENSP00000348702:R2988Q;ENSP00000388180:R3029Q;ENSP00000434583:R3025Q	ENSP00000323856:R3139Q	R	-	2	0	PLEC	145066972	0.040000	0.19996	0.221000	0.23827	0.005000	0.04900	-0.423000	0.07034	-1.800000	0.01247	-1.688000	0.00730	CGA		0.687	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		19	23	0	0	0	1	0	19	23					T	144994984	C	T	144994984	3	4	6	1	0	0	0	0	1	0	0	0	12052	884	31	1	4642	1	PLEC	8	144994984	Missense_Mutation	SNP	C	TCGA-BJ-A0Z9-01A-11D-A10S-08	92655711	144994984	1369038	17	206											
KCNV2	169522	broad.mit.edu	37	chr9	2718725	2718725	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccacgcccgacctgaggcGcttcgcgcgcagcgccctca	11	20	1	1			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr9:2718725G>A	ENST00000382082.3	+	1	1224	c.986G>A	c.(985-987)cGc>cAc	p.R329H		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	329					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GACCTGAGGCGCTTCGCGCGC	0.672																																						ENST00000382082.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35						c.(985-987)cGc>cAc		potassium channel, subfamily V, member 2							45	51	49					9																	2718725		2203	4297	6500	SO:0001583	missense	169522					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr9:2718725G>A	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.986G>A	9.37:g.2718725G>A	ENSP00000371514:p.Arg329His						p.R329H	NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN		GBM - Glioblastoma multiforme(50;0.0257)	1	1224	+			329					Q5T6X0	Missense_Mutation	SNP	ENST00000382082.3	37	c.986G>A	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.039658	0.35989	.	.	ENSG00000168263	ENST00000382082	D	0.97752	-4.52	5.22	4.3	0.51218	Ion transport (1);	0.447666	0.26383	N	0.024684	D	0.94052	0.8094	L	0.37897	1.145	0.50813	D	0.999892	B	0.18166	0.026	B	0.14578	0.011	D	0.90117	0.4196	10	0.44086	T	0.13	.	6.6104	0.22749	0.1519:0.152:0.6962:0.0	.	329	Q8TDN2	KCNV2_HUMAN	H	329	ENSP00000371514:R329H	ENSP00000371514:R329H	R	+	2	0	KCNV2	2708725	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.499000	0.53310	1.156000	0.42514	0.563000	0.77884	CGC		0.672	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		16	37	0	0	0	1	0	16	37					A	2718725	G	A	2718725	3	1	6	1	0	0	0	0	1	0	0	0	8095	1087	38	1	988	1	KCNV2	9	2718725	Missense_Mutation	SNP	G	TCGA-BJ-A0Z9-01A-11D-A10S-08		2718725	138494706	18	207											
MRGPRX2	117194	broad.mit.edu	37	chr11	19077011	19077011	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctgacggaagcatccttcActgtgatccacctcagcaat	7	15	2	2	rs117328742	byFrequency	TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr11:19077011A>C	ENST00000329773.2	-	2	1026	c.939T>G	c.(937-939)agT>agG	p.S313R		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	313					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						AGCATCCTTCACTGTGATCCA	0.557													A|||	8	0.00159744	0	0.0043	5008	,	,		18306	0		0.005	False		,,,				2504	0				GBM(198;1966 2199 4849 37227 49954)	ENST00000329773.2																			0				NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.(937-939)agT>agG		MAS-related GPR, member X2		A	ARG/SER	6,4392		0,6,2193	66	67	67		939	-1.7	0.0	11	dbSNP_132	67	50,8536		0,50,4243	yes	missense	MRGPRX2	NM_054030.2	110	0,56,6436	CC,CA,AA		0.5823,0.1364,0.4313	possibly-damaging	313/331	19077011	56,12928	2199	4293	6492	SO:0001583	missense	117194				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	g.chr11:19077011A>C		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"GPCR / Class A : Orphans"	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.939T>G	11.37:g.19077011A>C	ENSP00000333800:p.Ser313Arg						p.S313R	NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN			2	1026	-			313					B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Missense_Mutation	SNP	ENST00000329773.2	37	c.939T>G	CCDS7847.1	6	0.0027472527472527475	0	0.0	2	0.0055248618784530384	0	0.0	4	0.005277044854881266	.	9.994	1.231715	0.22626	0.001364	0.005823	ENSG00000183695	ENST00000329773	T	0.06068	3.35	4.71	-1.73	0.08081	.	1.970010	0.02118	N	0.055375	T	0.06325	0.0163	L	0.37750	1.13	0.09310	N	1	D	0.54047	0.964	P	0.48304	0.573	T	0.37314	-0.9711	10	0.36615	T	0.2	.	8.9356	0.35697	0.5669:0.0:0.4331:0.0	.	313	Q96LB1	MRGX2_HUMAN	R	313	ENSP00000333800:S313R	ENSP00000333800:S313R	S	-	3	2	MRGPRX2	19033587	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.210000	0.09345	-0.299000	0.08909	0.528000	0.53228	AGT		0.557	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030		5	65	0	0	0	1	0	5	65					C	19077011	A	C	19077011	3	2	6	1	0	0	0	0	1	0	0	0	9767	156	6	5	57	5	MRGPRX2	11	19077011	Missense_Mutation	SNP	A	TCGA-BJ-A0Z9-01A-11D-A10S-08		19077011	115929505	19	208											
OR5M3	219482	broad.mit.edu	37	chr11	56237488	56237488	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccacagaagtacaagccGtaagtccataatgttgctgc	8	10	0	1	rs143720540	byFrequency	TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr11:56237488G>A	ENST00000312240.2	-	1	526	c.486C>T	c.(484-486)taC>taT	p.Y162Y		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y162Y(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AGTACAAGCCGTAAGTCCATA	0.398													g|||	5	0.000998403	8e-04	0	5008	,	,		19621	0.002		0.001	False		,,,				2504	0.001					ENST00000312240.2																			1	Substitution - coding silent(1)	p.Y162Y(1)	endometrium(1)	NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(484-486)taC>taT		olfactory receptor, family 5, subfamily M, member 3		G		0,4402		0,0,2201	121	111	114		486	-6.9	0.0	11	dbSNP_134	114	4,8586	3.7+/-12.6	0,4,4291	no	coding-synonymous	OR5M3	NM_001004742.2		0,4,6492	AA,AG,GG		0.0466,0.0,0.0308		162/308	56237488	4,12988	2201	4295	6496	SO:0001819	synonymous_variant	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237488G>A	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"GPCR / Class A : Olfactory receptors"	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.486C>T	11.37:g.56237488G>A							p.Y162Y	NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN			1	526	-	Esophageal squamous(21;0.00448)		162					B2RNM7|Q6IEW4|Q96RC0	Silent	SNP	ENST00000312240.2	37	c.486C>T	CCDS31532.1																																																																																				0.398	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		4	73	0	0	0	1	0	4	73					A	56237488	G	A	56237488	2	1	6	1	0	0	0	0	0	0	0	1	11175	1140	40	1		1	OR5M3	11	56237488	Silent	SNP	G	TCGA-BJ-A0Z9-01A-11D-A10S-08	37160477	56237488	78769028	20	209											
C11orf70	85016	broad.mit.edu	37	chr11	101951999	101951999	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gattacctcttctgtctttaAagtttcagcttatgtaagtg	7	7	4	0			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr11:101951999A>C	ENST00000434758.2	+	6	690	c.662A>C	c.(661-663)aAa>aCa	p.K221T	C11orf70_ENST00000526781.1_Missense_Mutation_p.K221T	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	221										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		TCTGTCTTTAAAGTTTCAGCT	0.313																																						ENST00000434758.2																			0				breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12						c.(661-663)aAa>aCa		chromosome 11 open reading frame 70							86	87	87					11																	101951999		2203	4296	6499	SO:0001583	missense	85016							g.chr11:101951999A>C	AK094851	CCDS8313.1, CCDS8313.2, CCDS53698.1	11q22.1	2012-05-31			ENSG00000137691	ENSG00000137691			28188	protein-coding gene	gene with protein product							Standard	NM_032930		Approved	MGC13040	uc001pgp.3	Q9BRQ4	OTTHUMG00000167320	ENST00000434758.2:c.662A>C	11.37:g.101951999A>C	ENSP00000414390:p.Lys221Thr					C11orf70_ENST00000526781.1_Missense_Mutation_p.K221T	p.K221T	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)	6	690	+	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	221					E9PJU1	Missense_Mutation	SNP	ENST00000434758.2	37	c.662A>C	CCDS8313.2	.	.	.	.	.	.	.	.	.	.	A	18.58	3.655073	0.67472	.	.	ENSG00000137691	ENST00000434758;ENST00000526781;ENST00000423732	.	.	.	5.74	5.74	0.90152	.	0.123303	0.64402	D	0.000001	T	0.70369	0.3216	M	0.81239	2.535	0.80722	D	1	D	0.56746	0.977	P	0.55923	0.787	T	0.75001	-0.3471	9	0.72032	D	0.01	-16.1292	10.3638	0.44010	0.9228:0.0:0.0772:0.0	.	221	Q9BRQ4	CK070_HUMAN	T	221;221;183	.	ENSP00000392150:K183T	K	+	2	0	C11orf70	101457209	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.490000	0.60319	2.317000	0.78254	0.460000	0.39030	AAA		0.313	C11orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394144.1	NM_032930		10	29	0	0	0	1	0	10	29					C	101951999	A	C	101951999	3	2	6	1	0	0	0	0	1	0	0	0	1659	14	1	5	566	5	C11orf70	11	101951999	Missense_Mutation	SNP	A	TCGA-BJ-A0Z9-01A-11D-A10S-08	45714511	101951999	33054517	21	210											
EMG1	10436	broad.mit.edu	37	chr12	7080212	7080213	+	Splice_Site	INS	-	-	C													acaagatcggaggccgtagtINSttattgtggtgctggaaggg					rs11428482|rs374779752|rs17857448		TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr12:7080212_7080213insC	ENST00000261406.6	+	2	267_268	c.124_125insC	c.(124-126)ttt>tCtt	p.F42fs	PHB2_ENST00000546111.1_5'Flank|PHB2_ENST00000544134.1_5'Flank|EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000535923.1_5'Flank|PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000542912.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		GAGGCCGTAGTTTATTGTGGTG	0.569																																						ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3746,4		1873,0,2						5.4	1.0		dbSNP_120	28	7902,2		3951,0,1	no	frameshift	EMG1	NM_006331.7		5824,0,3	A1A1,A1R,RR		0.0253,0.1067,0.0515				11648,6				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080212_7080213insC	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"EMG1 nucleolar protein homolog (S. cerevisiae)"			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->C	12.37:g.7080212_7080213insC						U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA				Q92979	NEP1_HUMAN			0	157_158	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Frame_Shift_Ins	4	6						4	6	---	---	---	---	C	7080213	-	C	7080212	8	5	6	1	0	1	1	0	0	0	1	0	5090	1722	60	0	128	0	EMG1	12	7080212	Splice_Site	INS	-	TCGA-BJ-A0Z9-01A-11D-A10S-08		7080212	126771683	22	211											
LOC100132247	100132247	broad.mit.edu	37	chr16	22545452	22545454	+	In_Frame_Del	DEL	ATA	ATA	-													ccttccaccctcagcggatgAtaatctcaagacaccttccg							TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr16:22545452_22545454delATA	ENST00000517539.1	+	8	1223_1225	c.1148_1150delATA	c.(1147-1152)gataat>gat	p.N384del	NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000424340.1_In_Frame_Del_p.N384del			A8MRT5	NPIB5_HUMAN	nuclear pore complex interacting protein family, member B5	384	Pro-rich.					integral component of membrane (GO:0016021)											TCAGCGGATGATAATCTCAAGAC	0.576																																						ENST00000424340.1																			0											c.(1147-1152)gat>g		nuclear pore complex interacting protein family, member B5																																				SO:0001651	inframe_deletion	100132247							g.chr16:22545452_22545454delATA		CCDS45443.1	16p12.2	2013-06-11			ENSG00000243716	ENSG00000243716			37233	protein-coding gene	gene with protein product							Standard	NM_001135865		Approved			A8MRT5	OTTHUMG00000163573	ENST00000517539.1:c.1148_1150delATA	16.37:g.22545452_22545454delATA	ENSP00000430633:p.Asn384del					NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_In_Frame_Del_p.DN383del	p.DN383del	NM_001135865.1	NP_001129337.1					7	1427_1429	+								B4DK13	In_Frame_Del	DEL	ENST00000517539.1	37	c.1148_1150delATA	CCDS45443.1																																																																																				0.576	NPIPB5-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374343.2	NM_001135865		3	5						3	5	---	---	---	---	-	22545454	ATA	-	22545452	7	5	6	1	0	1	0	1	0	0	0	0	8868	333	12	0	1174	0	LOC100132247	16	22545452	In_Frame_Del	DEL	ATA	TCGA-BJ-A0Z9-01A-11D-A10S-08		22545452	67809301	23	212											
VPS53	55275	broad.mit.edu	37	chr17	465847	465847	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagtactgagctgagagcaTtgcaccatgcacttcttgta	9	11	1	2	rs370664941		TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr17:465847T>C	ENST00000571805.1	-	14	1588	c.1452A>G	c.(1450-1452)caA>caG	p.Q484Q	VPS53_ENST00000437048.2_Silent_p.Q484Q|VPS53_ENST00000446250.2_Silent_p.Q286Q|VPS53_ENST00000401468.3_Silent_p.Q207Q|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000291074.5_Silent_p.Q455Q|VPS53_ENST00000576149.1_5'UTR			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	484					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		GCTGAGAGCATTGCACCATGC	0.567																																						ENST00000437048.2																			0				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19						c.(1450-1452)caA>caG		vacuolar protein sorting 53 homolog (S. cerevisiae)		C	,	0,4406		0,0,2203	86	79	81		1452,1365	4.1	1.0	17		81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	VPS53	NM_001128159.2,NM_018289.3	,	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	,	484/833,455/671	465847	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55275				protein transport	endosome membrane|Golgi apparatus		g.chr17:465847T>C		CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"vacuolar protein sorting 53 (yeast)"			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.1452A>G	17.37:g.465847T>C						VPS53_ENST00000401468.3_Silent_p.Q207Q|VPS53_ENST00000291074.5_Silent_p.Q455Q|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000446250.2_Silent_p.Q286Q|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000571805.1_Silent_p.Q484Q	p.Q484Q	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)	14	1598	-			484					A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Silent	SNP	ENST00000571805.1	37	c.1452A>G																																																																																					0.567	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2	NM_018289		6	59	0	0	0	1	0	6	59					C	465847	T	C	465847	2	2	6	1	0	0	0	0	0	0	0	1	17212	1490	52	3		3	VPS53	17	465847	Silent	SNP	T	TCGA-BJ-A0Z9-01A-11D-A10S-08		465847	80729363	24	213											
SIGLEC11	114132	broad.mit.edu	37	chr19	50455611	50455611	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgacgccagctcccagGgcagcccccaggccaagtcc	12	19	0	0			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr19:50455611G>A	ENST00000447370.2	-	9	1782	c.1692C>T	c.(1690-1692)gcC>gcT	p.A564A	SIGLEC11_ENST00000426971.2_Silent_p.A468A|U3_ENST00000408198.1_RNA|CTC-326K19.6_ENST00000451973.1_Intron	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	564					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CAGCTCCCAGGGCAGCCCCCA	0.657																																						ENST00000447370.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32						c.(1690-1692)gcC>gcT		sialic acid binding Ig-like lectin 11							71	73	72					19																	50455611		2203	4300	6503	SO:0001819	synonymous_variant	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50455611G>A	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1692C>T	19.37:g.50455611G>A						SIGLEC11_ENST00000426971.2_Silent_p.A468A|CTC-326K19.6_ENST00000451973.1_Intron	p.A564A	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	9	1782	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	564						Silent	SNP	ENST00000447370.2	37	c.1692C>T	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	G	3.798	-0.042314	0.07452	.	.	ENSG00000161640	ENST00000426971	.	.	.	3.21	-6.43	0.01926	.	.	.	.	.	T	0.24736	0.0600	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30357	-0.9981	4	.	.	.	.	6.4013	0.21640	0.2141:0.5021:0.2838:0.0	.	.	.	.	L	458	.	.	P	-	2	0	SIGLEC11	55147423	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.769000	0.01792	-1.249000	0.02500	-1.474000	0.01003	CCC		0.657	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		27	36	0	0	0	1	0	27	36					A	50455611	G	A	50455611	2	1	6	1	0	0	0	0	0	0	0	1	14307	1219	43	2		2	SIGLEC11	19	50455611	Silent	SNP	G	TCGA-BJ-A0Z9-01A-11D-A10S-08		50455611	8673372	25	214											
SEL1L2	80343	broad.mit.edu	37	chr20	13830243	13830243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttcagccagttccatctcGttgtgaactgctggcaagag	11	10	2	2	rs199650783	byFrequency	TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr20:13830243G>A	ENST00000284951.5	-	20	2029	c.1955C>T	c.(1954-1956)aCg>aTg	p.T652M	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.T539M			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	652						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						GTTCCATCTCGTTGTGAACTG	0.483													G|||	4	0.000798722	0.0023	0	5008	,	,		15689	0		0	False		,,,				2504	0.001					ENST00000284951.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						c.(1954-1956)aCg>aTg		sel-1 suppressor of lin-12-like 2 (C. elegans)		G	MET/THR	11,3967		0,11,1978	146	146	146		1955	-0.2	0.0	20		146	1,8321		0,1,4160	yes	missense	SEL1L2	NM_025229.1	81	0,12,6138	AA,AG,GG		0.012,0.2765,0.0976	benign	652/689	13830243	12,12288	1989	4161	6150	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13830243G>A	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"chromosome 20 open reading frame 50"	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1955C>T	20.37:g.13830243G>A	ENSP00000284951:p.Thr652Met					SEL1L2_ENST00000378072.5_Missense_Mutation_p.T539M|SEL1L2_ENST00000486903.1_5'UTR	p.T652M			Q5TEA6	SE1L2_HUMAN			20	2029	-			652					B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.1955C>T		.	.	.	.	.	.	.	.	.	.	G	9.017	0.983913	0.18889	0.002765	1.2E-4	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.23147	1.92;2.23	5.17	-0.153	0.13403	.	0.886778	0.09839	N	0.749178	T	0.08582	0.0213	N	0.02802	-0.49	0.09310	N	1	B;B	0.13594	0.008;0.001	B;B	0.06405	0.002;0.0	T	0.28332	-1.0047	10	0.40728	T	0.16	2.6533	1.049	0.01575	0.5163:0.157:0.1751:0.1515	.	539;652	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	M	539;652	ENSP00000367312:T539M;ENSP00000284951:T652M	ENSP00000284951:T652M	T	-	2	0	SEL1L2	13778243	0.000000	0.05858	0.009000	0.14445	0.901000	0.52897	-0.049000	0.11924	-0.319000	0.08652	-0.266000	0.10368	ACG		0.483	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		11	37	0	0	0	1	0	11	37					A	13830243	G	A	13830243	3	1	6	1	0	0	0	0	1	0	0	0	14011	1145	40	1	115	1	SEL1L2	20	13830243	Missense_Mutation	SNP	G	TCGA-BJ-A0Z9-01A-11D-A10S-08		13830243	49195277	26	215											
CXorf65	158830	broad.mit.edu	37	chrX	70324246	70324246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggcatcacattgtatgcGcagtgcaactaagaacaagg	11	9	1	1	rs199887066		TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chrX:70324246G>A	ENST00000374251.5	-	5	376	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C		NM_001025265.2	NP_001020436.1	A6NEN9	CX065_HUMAN	chromosome X open reading frame 65	110										breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						CATTGTATGCGCAGTGCAACT	0.478																																						ENST00000374251.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						c.(328-330)Cgc>Tgc		chromosome X open reading frame 65		G	CYS/ARG	0,3835		0,0,0,1632,571	59	44	49		328	2.0	0.9	X		49	2,6726		0,1,1,2427,1871	no	missense	CXorf65	NM_001025265.2	180	0,1,1,4059,2442	AA,AG,A,GG,G		0.0297,0.0,0.0189	benign	110/184	70324246	2,10561	2203	4300	6503	SO:0001583	missense	158830							g.chrX:70324246G>A	BC144434	CCDS35324.1	Xq13.1	2009-03-06			ENSG00000204165	ENSG00000204165			33713	protein-coding gene	gene with protein product							Standard	NM_001025265		Approved		uc011mpo.2	A6NEN9	OTTHUMG00000021785	ENST00000374251.5:c.328C>T	X.37:g.70324246G>A	ENSP00000363369:p.Arg110Cys					CXorf65_ENST00000485951.1_5'UTR	p.R110C			A6NEN9	CX065_HUMAN			5	375	-			110						Missense_Mutation	SNP	ENST00000374251.5	37	c.328C>T	CCDS35324.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.789377	0.31685	0.0	2.97E-4	ENSG00000204165	ENST00000374251;ENST00000438526	T;T	0.58060	0.36;0.48	3.91	1.96	0.26148	.	0.607210	0.16074	N	0.230827	T	0.29321	0.0730	N	0.15975	0.35	0.23673	N	0.997143	B	0.24132	0.098	B	0.18871	0.023	T	0.15235	-1.0444	10	0.56958	D	0.05	-7.1756	3.644	0.08177	0.1354:0.0:0.6223:0.2423	.	110	A6NEN9	CX065_HUMAN	C	110	ENSP00000363369:R110C;ENSP00000411354:R110C	ENSP00000363369:R110C	R	-	1	0	CXorf65	70240971	0.058000	0.20735	0.906000	0.35671	0.377000	0.30045	0.770000	0.26618	0.793000	0.33875	-0.190000	0.12839	CGC		0.478	CXorf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057089.2	NM_001025265		3	16	0	0	0	1	0	3	16					A	70324246	G	A	70324246	3	1	6	1	0	0	0	0	1	0	0	0	4117	1087	38	1	231	1	CXorf65	23	70324246	Missense_Mutation	SNP	G	TCGA-BJ-A0Z9-01A-11D-A10S-08		70324246	84946314	27	216											
ARMCX2	9823	broad.mit.edu	37	chrX	100911988	100911988	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taggtgctgctaccccaggaCcctcggtcacctcagtgggt	12	14	2	0			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chrX:100911988C>A	ENST00000328766.5	-	5	1040	c.587G>T	c.(586-588)gGt>gTt	p.G196V	ARMCX2_ENST00000356824.4_Missense_Mutation_p.G196V|ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000330154.2_Missense_Mutation_p.G196V	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	196	Ala-rich.					integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						TACCCCAGGACCCTCGGTCAC	0.662																																						ENST00000328766.5																			0				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						c.(586-588)gGt>gTt		armadillo repeat containing, X-linked 2							25	24	24					X																	100911988		2194	4276	6470	SO:0001583	missense	9823					integral to membrane	binding	g.chrX:100911988C>A	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"Armadillo repeat containing"	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.587G>T	X.37:g.100911988C>A	ENSP00000331662:p.Gly196Val					ARMCX2_ENST00000356824.4_Missense_Mutation_p.G196V|ARMCX2_ENST00000330154.2_Missense_Mutation_p.G196V	p.G196V	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN			5	1040	-			196			Ala-rich.		O60267|Q5H9D9	Missense_Mutation	SNP	ENST00000328766.5	37	c.587G>T	CCDS14490.1	.	.	.	.	.	.	.	.	.	.	C	4.219	0.039510	0.08148	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824	T;T;T	0.30182	1.54;1.54;1.54	3.99	-2.58	0.06228	.	.	.	.	.	T	0.12646	0.0307	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24012	-1.0172	9	0.28530	T	0.3	.	5.6835	0.17790	0.3583:0.3872:0.2545:0.0	.	196	Q7L311	ARMX2_HUMAN	V	196	ENSP00000331662:G196V;ENSP00000328631:G196V;ENSP00000349281:G196V	ENSP00000331662:G196V	G	-	2	0	ARMCX2	100798644	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.598000	0.05706	-1.007000	0.03408	-1.886000	0.00541	GGT		0.662	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		19	34	1	0	1.45105e-14	1	1.80282e-14	19	34					A	100911988	C	A	100911988	3	1	6	1	0	0	0	0	1	0	0	0	960	507	18	4	1315	4	ARMCX2	23	100911988	Missense_Mutation	SNP	C	TCGA-BJ-A0Z9-01A-11D-A10S-08	30587742	100911988	54358572	28	217											
FLNA	2316	broad.mit.edu	37	chrX	153593301	153593301	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttctgattgccacactcGgtgcccaccttcacttcgaa	6	16	2	1	rs201550267		TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chrX:153593301G>A	ENST00000369850.3	-	12	1952	c.1716C>T	c.(1714-1716)acC>acT	p.T572T	FLNA_ENST00000360319.4_Silent_p.T572T|FLNA_ENST00000422373.1_Silent_p.T572T|FLNA_ENST00000344736.4_Silent_p.T572T	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	572					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCCACACTCGGTGCCCACCT	0.642																																						ENST00000422373.1																			0				breast(6)	6						c.(1714-1716)acC>acT		filamin A, alpha			,	1,3602		0,1,0,1515,571	89	100	97		1716,1716	-8.6	0.2	X		97	4,6563		0,2,2,2375,1811	no	coding-synonymous,coding-synonymous	FLNA	NM_001110556.1,NM_001456.3	,	0,3,2,3890,2382	AA,AG,A,GG,G		0.0609,0.0278,0.0492	,	572/2648,572/2640	153593301	5,10165	2087	4190	6277	SO:0001819	synonymous_variant	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153593301G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.1716C>T	X.37:g.153593301G>A						FLNA_ENST00000369850.3_Silent_p.T572T|FLNA_ENST00000344736.4_Silent_p.T572T|FLNA_ENST00000360319.4_Silent_p.T572T	p.T572T	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			12	1964	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		572					E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.1716C>T	CCDS48194.1																																																																																				0.642	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			7	156	0	0	0	1	0	7	156					A	153593301	G	A	153593301	2	1	6	1	0	0	0	0	0	0	0	1	5933	1103	39	1		1	FLNA	23	153593301	Silent	SNP	G	TCGA-BJ-A0Z9-01A-11D-A10S-08	52681313	153593301	1677259	29	218											
SLC25A24	29957	broad.mit.edu	37	chr1	108697672	108697672	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgacgtttgtaccatttcccCtccaaagcgagcggatacct	8	13	0	1			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr1:108697672C>A	ENST00000565488.1	-	6	974	c.755G>T	c.(754-756)aGg>aTg	p.R252M	SLC25A24_ENST00000370041.4_Missense_Mutation_p.R233M	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	252					ATP transport (GO:0015867)|cellular response to calcium ion (GO:0071277)|cellular response to oxidative stress (GO:0034599)|mitochondrial transport (GO:0006839)|regulation of cell death (GO:0010941)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP transmembrane transporter activity (GO:0005347)|calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		ACCATTTCCCCTCCAAAGCGA	0.388																																						ENST00000565488.1																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16						c.(754-756)aGg>aTg		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24							125	117	119					1																	108697672		2203	4300	6503	SO:0001583	missense	29957				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr1:108697672C>A	AJ619961	CCDS786.1, CCDS41361.1	1p13.2	2013-05-22			ENSG00000085491	ENSG00000085491		"Solute carriers", "EF-hand domain containing"	20662	protein-coding gene	gene with protein product		608744				15123600	Standard	NM_013386		Approved	DKFZp586G0123, APC1	uc001dvn.5	Q6NUK1	OTTHUMG00000011013	ENST00000565488.1:c.755G>T	1.37:g.108697672C>A	ENSP00000457733:p.Arg252Met					SLC25A24_ENST00000370041.4_Missense_Mutation_p.R233M	p.R252M	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)	6	974	-		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)	252					B7ZAI9|Q5T331|Q5T485|Q6PJJ9|Q705K4|Q9P129	Missense_Mutation	SNP	ENST00000565488.1	37	c.755G>T	CCDS41361.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.340783	0.81911	.	.	ENSG00000085491	ENST00000264128;ENST00000370041	D	0.82255	-1.59	5.4	5.4	0.78164	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.94434	0.8209	H	0.98111	4.15	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.79108	0.992;0.955	D	0.96308	0.9226	10	0.87932	D	0	-26.4634	18.1686	0.89737	0.0:1.0:0.0:0.0	.	252;233	Q6NUK1;Q6NUK1-2	SCMC1_HUMAN;.	M	252;233	ENSP00000359058:R233M	ENSP00000264128:R252M	R	-	2	0	SLC25A24	108499195	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	7.747000	0.85070	2.522000	0.85027	0.484000	0.47621	AGG		0.388	SLC25A24-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030280.2	NM_013386		4	123	1	0	0.150653	0.150653	0.155513	4	123					A	108697672	C	A	108697672	3	1	7	1	0	0	0	0	1	0	0	0	14487	681	24	4	698	4	SLC25A24	1	108697672	Missense_Mutation	SNP	C	TCGA-BJ-A0ZA-01A-11D-A10S-08		108697672	140552949	1	219											
ATF6	22926	broad.mit.edu	37	chr1	161816351	161816351	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggacacatcagatggtattAtccagaaaaacagctacagg	9	8	1	2			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr1:161816351A>T	ENST00000367942.3	+	10	1367	c.1300A>T	c.(1300-1302)Atc>Ttc	p.I434F	ATF6_ENST00000476437.1_3'UTR	NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	434					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	AGATGGTATTATCCAGAAAAA	0.413																																						ENST00000367942.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34						c.(1300-1302)Atc>Ttc		activating transcription factor 6							120	112	115					1																	161816351		2203	4300	6503	SO:0001583	missense	22926				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:161816351A>T	AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"basic leucine zipper proteins"	791	protein-coding gene	gene with protein product	"activating transcription factor 6 alpha"	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.1300A>T	1.37:g.161816351A>T	ENSP00000356919:p.Ile434Phe					ATF6_ENST00000476437.1_3'UTR	p.I434F	NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00953)		10	1367	+	all_hematologic(112;0.156)		434					O15139|Q5VW62|Q6IPB5|Q9UEC9	Missense_Mutation	SNP	ENST00000367942.3	37	c.1300A>T	CCDS1235.1	.	.	.	.	.	.	.	.	.	.	A	10.95	1.496840	0.26861	.	.	ENSG00000118217	ENST00000367942	T	0.14516	2.5	5.1	2.76	0.32466	.	0.606272	0.18578	N	0.137127	T	0.03348	0.0097	L	0.29908	0.895	0.30575	N	0.763061	B;B	0.23735	0.068;0.09	B;B	0.23150	0.044;0.04	T	0.29150	-1.0021	9	0.51188	T	0.08	-9.5825	6.3035	0.21125	0.8031:0.0:0.1969:0.0	.	434;435	P18850;Q59H30	ATF6A_HUMAN;.	F	434	ENSP00000356919:I434F	ENSP00000356919:I434F	I	+	1	0	ATF6	160082975	0.985000	0.35326	0.976000	0.42696	0.477000	0.33069	1.639000	0.37176	0.875000	0.35847	0.443000	0.29094	ATC		0.413	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348		4	102	0	0	0	0.150653	0	4	102					T	161816351	A	T	161816351	3	4	7	1	0	0	0	0	1	0	0	0	1084	449	16	5	1338	5	ATF6	1	161816351	Missense_Mutation	SNP	A	TCGA-BJ-A0ZA-01A-11D-A10S-08	53118679	161816351	87434270	2	220											
PROC	5624	broad.mit.edu	37	chr2	128186036	128186036	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	agcaccaccgacaatgacatCgcactgctgcacctggccca	8	17	0	1	rs112356403	byFrequency	TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr2:128186036C>G	ENST00000234071.3	+	9	987	c.900C>G	c.(898-900)atC>atG	p.I300M	PROC_ENST00000422777.3_Missense_Mutation_p.I300M|PROC_ENST00000409048.1_Missense_Mutation_p.I334M|PROC_ENST00000453608.2_Missense_Mutation_p.I355M	NM_000312.3	NP_000303.1	P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	300	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood coagulation (GO:0030195)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	ACAATGACATCGCACTGCTGC	0.632																																						ENST00000453608.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15						c.(1063-1065)atC>atG		protein C (inactivator of coagulation factors Va and VIIIa)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)						119	96	104					2																	128186036		2203	4300	6503	SO:0001583	missense	5624				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity	g.chr2:128186036C>G	X02750	CCDS2145.1	2q13-q14	2014-01-30			ENSG00000115718	ENSG00000115718		"Endogenous ligands"	9451	protein-coding gene	gene with protein product	"prepro-protein C"	612283				2991887, 2437584	Standard	NM_000312		Approved		uc002tok.3	P04070	OTTHUMG00000131528	ENST00000234071.3:c.900C>G	2.37:g.128186036C>G	ENSP00000234071:p.Ile300Met					PROC_ENST00000234071.3_Missense_Mutation_p.I300M|PROC_ENST00000422777.3_Missense_Mutation_p.I300M|PROC_ENST00000409048.1_Missense_Mutation_p.I334M	p.I355M			P04070	PROC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0673)	8	1073	+	Colorectal(110;0.1)		300			Peptidase S1.		B4DPQ7|Q15189|Q15190|Q16001|Q53S74|Q9UC55	Missense_Mutation	SNP	ENST00000234071.3	37	c.1065C>G	CCDS2145.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.37|14.37	2.514781|2.514781	0.44763|0.44763	.|.	.|.	ENSG00000115718|ENSG00000115718	ENST00000234071;ENST00000537436;ENST00000453608;ENST00000409048;ENST00000422777|ENST00000402125	D;D;D;D|.	0.95821|.	-3.82;-3.82;-3.82;-3.82|.	5.55|5.55	-1.34|-1.34	0.09143|0.09143	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	0.000000|.	0.44688|.	D|.	0.000421|.	T|T	0.76054|0.76054	0.3934|0.3934	M|M	0.91717|0.91717	3.235|3.235	0.49130|0.49130	D|D	0.999753|0.999753	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;0.996;1.0|.	T|T	0.76299|0.76299	-0.3010|-0.3010	10|5	0.87932|.	D|.	0|.	.|.	8.6615|8.6615	0.34095|0.34095	0.0954:0.4654:0.0:0.4392|0.0954:0.4654:0.0:0.4392	.|.	355;356;334;300|.	B4DPQ7;B4DPQ3;E7END6;P04070|.	.;.;.;PROC_HUMAN|.	M|W	300;259;355;334;300|75	ENSP00000234071:I300M;ENSP00000404030:I355M;ENSP00000386679:I334M;ENSP00000409543:I300M|.	ENSP00000234071:I300M|.	I|S	+|+	3|2	3|0	PROC|PROC	127902506|127902506	0.001000|0.001000	0.12720|0.12720	0.963000|0.963000	0.40424|0.40424	0.489000|0.489000	0.33432|0.33432	-1.407000|-1.407000	0.02488|0.02488	-0.165000|-0.165000	0.10908|0.10908	-0.258000|-0.258000	0.10820|0.10820	ATC|TCG		0.632	PROC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254385.2	NM_000312		3	103	0	0	0	0.115264	0	3	103					G	128186036	C	G	128186036	3	3	7	1	0	0	0	0	1	0	0	0	12545	874	31	4	930	4	PROC	2	128186036	Missense_Mutation	SNP	C	TCGA-BJ-A0ZA-01A-11D-A10S-08		128186036	115013337	3	221											
ZRANB3	84083	broad.mit.edu	37	chr2	136026599	136026599	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caataaggtagtgaatattcAcagaactgcactggccaatt	8	8	1	2			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr2:136026599A>G	ENST00000264159.6	-	11	1435	c.1319T>C	c.(1318-1320)gTg>gCg	p.V440A	ZRANB3_ENST00000401392.1_Missense_Mutation_p.V440A|ZRANB3_ENST00000536680.1_Missense_Mutation_p.V440A	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	440	DNA annealing helicase activity.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GTGAATATTCACAGAACTGCA	0.423																																						ENST00000401392.1																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20						c.(1318-1320)gTg>gCg		zinc finger, RAN-binding domain containing 3							196	187	190					2																	136026599		1852	4096	5948	SO:0001583	missense	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:136026599A>G	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"Zinc fingers, RAN-binding domain containing"	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.1319T>C	2.37:g.136026599A>G	ENSP00000264159:p.Val440Ala					ZRANB3_ENST00000536680.1_Missense_Mutation_p.V440A|ZRANB3_ENST00000264159.6_Missense_Mutation_p.V440A	p.V440A			Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	11	1531	-			440			Helicase C-terminal.		B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	ENST00000264159.6	37	c.1319T>C	CCDS46419.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.873374	0.91664	.	.	ENSG00000121988	ENST00000401392;ENST00000264159;ENST00000536680	D;D;D	0.94966	-3.57;-3.57;-3.57	5.55	5.55	0.83447	Helicase, C-terminal (1);	0.057203	0.64402	D	0.000002	D	0.98201	0.9405	H	0.97131	3.945	0.80722	D	1	D;D	0.71674	0.993;0.998	P;D	0.70016	0.853;0.967	D	0.99636	1.0987	10	0.87932	D	0	-14.4179	15.9962	0.80250	1.0:0.0:0.0:0.0	.	440;440	Q5FWF4;Q5FWF4-3	ZRAB3_HUMAN;.	A	440	ENSP00000383979:V440A;ENSP00000264159:V440A;ENSP00000441320:V440A	ENSP00000264159:V440A	V	-	2	0	ZRANB3	135743069	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.230000	0.95299	2.234000	0.73211	0.533000	0.62120	GTG		0.423	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143		8	194	0	0	0	0.335167	0	8	194					G	136026599	A	G	136026599	3	3	7	1	0	0	0	0	1	0	0	0	18221	159	6	3	1964	3	ZRANB3	2	136026599	Missense_Mutation	SNP	A	TCGA-BJ-A0ZA-01A-11D-A10S-08	7840563	136026599	107172774	4	222											
LPP	4026	broad.mit.edu	37	chr3	188584007	188584007	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatactctggagcagtgcaAtgtgtgttccaagcccatca	10	10	2	0			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr3:188584007A>G	ENST00000312675.4	+	9	1676	c.1430A>G	c.(1429-1431)aAt>aGt	p.N477S	LPP_ENST00000543006.1_Missense_Mutation_p.N477S	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	477	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GAGCAGTGCAATGTGTGTTCC	0.532			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"																																	ENST00000312675.4				Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"L, M"	"HMGA2, MLL, C12orf9"		"lipoma, leukemia"	HMGA2/LPP(161)	0				NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(1429-1431)aAt>aGt		LIM domain containing preferred translocation partner in lipoma							159	136	144					3																	188584007		2203	4300	6503	SO:0001583	missense	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188584007A>G	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"LIM domain-containing preferred translocation partner in lipoma"			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1430A>G	3.37:g.188584007A>G	ENSP00000318089:p.Asn477Ser					LPP_ENST00000543006.1_Missense_Mutation_p.N477S	p.N477S	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	9	1676	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	477			LIM zinc-binding 2.		A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	ENST00000312675.4	37	c.1430A>G	CCDS3291.1	.	.	.	.	.	.	.	.	.	.	A	1.428	-0.571121	0.03882	.	.	ENSG00000145012	ENST00000312675;ENST00000543006	D;D	0.86562	-2.14;-2.14	5.76	-0.704	0.11256	Zinc finger, LIM-type (5);	0.397537	0.34156	N	0.004205	T	0.51719	0.1691	N	0.00459	-1.475	0.19575	N	0.999965	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.55503	-0.8131	10	0.12103	T	0.63	.	2.6457	0.04983	0.186:0.2775:0.3991:0.1374	.	330;477	B7Z8W0;Q93052	.;LPP_HUMAN	S	477	ENSP00000318089:N477S;ENSP00000438891:N477S	ENSP00000318089:N477S	N	+	2	0	LPP	190066701	0.046000	0.20272	0.045000	0.18777	0.970000	0.65996	0.455000	0.21843	-0.339000	0.08401	0.533000	0.62120	AAT		0.532	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		35	48	0	0	0	0.788014	0	35	48					G	188584007	A	G	188584007	3	3	7	1	0	0	0	0	1	0	0	0	8923	101	4	3	1456	3	LPP	3	188584007	Missense_Mutation	SNP	A	TCGA-BJ-A0ZA-01A-11D-A10S-08		188584007	9438423	5	223											
FBN2	2201	broad.mit.edu	37	chr5	127637170	127637170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaacgtccatttctgcacaCctgaccaaaaaaggaactgc	6	13	1	1			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr5:127637170C>T	ENST00000508053.1	-	53	6924	c.5950G>A	c.(5950-5952)Gtg>Atg	p.V1984M	FBN2_ENST00000262464.4_Missense_Mutation_p.V1984M			P35556	FBN2_HUMAN	fibrillin 2	1984	EGF-like 33; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTTCTGCACACCTGACCAAAA	0.368																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(5950-5952)Gtg>Atg		fibrillin 2							141	140	140					5																	127637170		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127637170C>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.5950G>A	5.37:g.127637170C>T	ENSP00000424571:p.Val1984Met					FBN2_ENST00000262464.4_Missense_Mutation_p.V1984M	p.V1984M			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	53	6924	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1984			EGF-like 33; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.5950G>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955472	0.73902	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.92199	-2.99;-2.99	5.53	4.65	0.58169	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.56097	D	0.000031	D	0.88020	0.6325	L	0.28054	0.825	0.45250	D	0.99825	P	0.43750	0.816	B	0.43809	0.432	D	0.87862	0.2665	10	0.44086	T	0.13	.	14.9671	0.71201	0.0:0.9305:0.0:0.0695	.	1984	P35556	FBN2_HUMAN	M	1984	ENSP00000262464:V1984M;ENSP00000424571:V1984M	ENSP00000262464:V1984M	V	-	1	0	FBN2	127665069	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.308000	0.59129	2.879000	0.98667	0.650000	0.86243	GTG		0.368	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		6	134	0	0	0	0.27861	0	6	134					T	127637170	C	T	127637170	3	4	7	1	0	0	0	0	1	0	0	0	5703	507	18	2	2864	2	FBN2	5	127637170	Missense_Mutation	SNP	C	TCGA-BJ-A0ZA-01A-11D-A10S-08		127637170	53278090	6	224											
LAMA4	3910	broad.mit.edu	37	chr6	112462655	112462655	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagttcccaaattatagacGtataccagattatcattttt	4	7	1	2	rs530825191		TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr6:112462655G>A	ENST00000230538.7	-	21	3115	c.2718C>T	c.(2716-2718)taC>taT	p.Y906Y	LAMA4_ENST00000522006.1_Silent_p.Y899Y|LAMA4_ENST00000389463.4_Silent_p.Y899Y|LAMA4_ENST00000424408.2_Silent_p.Y899Y	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	906	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AATTATAGACGTATACCAGAT	0.368																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(2716-2718)taC>taT		laminin, alpha 4							101	102	102					6																	112462655		2203	4300	6503	SO:0001819	synonymous_variant	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112462655G>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.2718C>T	6.37:g.112462655G>A						LAMA4_ENST00000424408.2_Silent_p.Y899Y|LAMA4_ENST00000522006.1_Silent_p.Y899Y|LAMA4_ENST00000389463.4_Silent_p.Y899Y	p.Y906Y	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	21	3115	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	906			Laminin G-like 1.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	ENST00000230538.7	37	c.2718C>T	CCDS43491.1																																																																																				0.368	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		26	62	0	0	0	0.667858	0	26	62					A	112462655	G	A	112462655	2	1	7	1	0	0	0	0	0	0	0	1	8608	1140	40	1		1	LAMA4	6	112462655	Silent	SNP	G	TCGA-BJ-A0ZA-01A-11D-A10S-08		112462655	58652412	7	225											
POM121	9883	broad.mit.edu	37	chr7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttgagcccctggtggccaAtggagtccccgcttcttttg	11	12	1	1	rs147859349		TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr7:72398976A>G	ENST00000434423.2	+	4	1076	c.1076A>G	c.(1075-1077)aAt>aGt	p.N359S	POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000395270.1_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side. {ECO:0000255}.				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)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468													.|||	1	0.000199681	8e-04	0	5008	,	,		16715	0		0	False		,,,				2504	0					ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(280-282)aAt>aGt		POM121 transmembrane nucleoporin							189	188	188					7																	72398976		2203	4300	6503	SO:0001583	missense	9883				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.chr7:72398976A>G	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"-"	19702	protein-coding gene	gene with protein product		615753	"POM121 membrane glycoprotein (rat)", "POM121 membrane glycoprotein"			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.1076A>G	7.37:g.72398976A>G	ENSP00000405562:p.Asn359Ser					POM121_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S	p.N94S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			7	1322	+		Lung NSC(55;0.163)	359			Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.281A>G		.	.	.	.	.	.	.	.	.	.	G	12.65	2.002131	0.35320	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52	3.99	3.99	0.46301	.	0.154071	0.30020	N	0.010614	T	0.13457	0.0326	L	0.57536	1.79	0.32153	N	0.584002	B;B	0.31193	0.312;0.006	B;B	0.26202	0.067;0.053	T	0.08066	-1.0740	10	0.30078	T	0.28	.	10.8045	0.46509	1.0:0.0:0.0:0.0	.	94;359	A8MXF9;Q96HA1	.;P121A_HUMAN	S	94;94;94;94;359	ENSP00000393020:N94S;ENSP00000257622:N94S;ENSP00000378687:N94S;ENSP00000351124:N94S;ENSP00000405562:N359S	ENSP00000257622:N94S	N	+	2	0	POM121	72036912	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	5.143000	0.64826	1.663000	0.50791	0.373000	0.22412	AAT		0.468	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			5	325	0	0	0	0.184627	0	5	325					G	72398976	A	G	72398976	3	3	7	1	0	0	0	0	1	0	0	0	12239	101	4	3	291	3	POM121	7	72398976	Missense_Mutation	SNP	A	TCGA-BJ-A0ZA-01A-11D-A10S-08		72398976	86739687	8	226											
SRPK2	6733	broad.mit.edu	37	chr7	104786953	104786953	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccctcacctgcagaccctgaAggaggaggagcacctgcttt	11	14	1	2			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr7:104786953A>T	ENST00000393651.3	-	8	861	c.774T>A	c.(772-774)ccT>ccA	p.P258P	SRPK2_ENST00000489828.1_Silent_p.P247P|SRPK2_ENST00000357311.3_Silent_p.P247P	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						CAGACCCTGAAGGAGGAGGAG	0.498																																						ENST00000357311.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						c.(739-741)ccT>ccA		SRSF protein kinase 2							89	70	77					7																	104786953		2203	4300	6503	SO:0001819	synonymous_variant	6733				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr7:104786953A>T	U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"SR protein kinase 2", "serine/arginine-rich splicing factor kinase 2"	602980	"SFRS protein kinase 2"			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.774T>A	7.37:g.104786953A>T						SRPK2_ENST00000393651.3_Silent_p.P258P|SRPK2_ENST00000489828.1_Silent_p.P247P	p.P247P	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN			7	912	-			247			Protein kinase.			Silent	SNP	ENST00000393651.3	37	c.741T>A	CCDS34724.1																																																																																				0.498	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1	NM_182691		8	44	0	0	0	0.307466	0	8	44					T	104786953	A	T	104786953	2	4	7	1	0	0	0	0	0	0	0	1	15159	59	3	5		5	SRPK2	7	104786953	Silent	SNP	A	TCGA-BJ-A0ZA-01A-11D-A10S-08	32387977	104786953	54351710	9	227											
MAT1A	4143	broad.mit.edu	37	chr10	82036179	82036179	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgggctgcaggtggtagaCggtgtcttcgtccaggtact	15	9	1	1	rs147356286		TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr10:82036179C>T	ENST00000372213.3	-	6	981	c.721G>A	c.(721-723)Gtc>Atc	p.V241I	MAT1A_ENST00000485270.1_5'Flank	NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	241					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	AGGTGGTAGACGGTGTCTTCG	0.592																																						ENST00000372213.3																			0				endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(721-723)Gtc>Atc		methionine adenosyltransferase I, alpha	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	111	99	103		721	-0.4	0.8	10	dbSNP_134	103	2,8598	2.2+/-6.3	0,2,4298	yes	missense	MAT1A	NM_000429.2	29	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign	241/396	82036179	3,13003	2203	4300	6503	SO:0001583	missense	4143				methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	g.chr10:82036179C>T		CCDS7365.1	10q22	2008-08-01			ENSG00000151224	ENSG00000151224			6903	protein-coding gene	gene with protein product	"S-adenosylmethionine synthetase"	610550				8393662	Standard	XM_005269842		Approved	MAT, SAMS, MATA1, SAMS1	uc001kbw.3	Q00266	OTTHUMG00000018613	ENST00000372213.3:c.721G>A	10.37:g.82036179C>T	ENSP00000361287:p.Val241Ile						p.V241I	NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	Colorectal(32;0.229)		6	981	-			241					D3DWD5|Q5QP09	Missense_Mutation	SNP	ENST00000372213.3	37	c.721G>A	CCDS7365.1	.	.	.	.	.	.	.	.	.	.	C	3.624	-0.076890	0.07184	2.27E-4	2.33E-4	ENSG00000151224	ENST00000372213;ENST00000372206	D	0.82255	-1.59	4.84	-0.375	0.12509	S-adenosylmethionine synthetase, central domain (1);S-adenosylmethionine synthetase superfamily (1);	0.515439	0.23558	N	0.046898	T	0.53254	0.1785	N	0.02658	-0.545	0.42388	D	0.99251	B	0.02656	0.0	B	0.04013	0.001	T	0.48490	-0.9031	10	0.05833	T	0.94	-9.6283	8.9585	0.35832	0.0:0.4239:0.0:0.5761	.	241	Q00266	METK1_HUMAN	I	241	ENSP00000361287:V241I	ENSP00000361280:V241I	V	-	1	0	MAT1A	82026159	0.425000	0.25498	0.816000	0.32577	0.860000	0.49131	-0.036000	0.12185	-0.148000	0.11234	-0.294000	0.09567	GTC		0.592	MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049070.1	NM_000429		7	131	0	0	0	0.27861	0	7	131					T	82036179	C	T	82036179	3	4	7	1	0	0	0	0	1	0	0	0	9329	536	19	1	482	1	MAT1A	10	82036179	Missense_Mutation	SNP	C	TCGA-BJ-A0ZA-01A-11D-A10S-08		82036179	53498568	10	228											
PC	5091	broad.mit.edu	37	chr11	66638642	66638642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcagggacgtgatgggggCatctgtgccagggacaacgg	18	8	1	1			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr11:66638642C>T	ENST00000393958.2	-	6	607	c.514G>A	c.(514-516)Gcc>Acc	p.A172T	PC_ENST00000393955.2_Missense_Mutation_p.A172T|PC_ENST00000393960.1_Missense_Mutation_p.A172T|PC_ENST00000355677.3_Missense_Mutation_p.A172T|PC_ENST00000524491.1_Missense_Mutation_p.A132T	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	172	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GTGATGGGGGCATCTGTGCCA	0.622																																						ENST00000393960.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(514-516)Gcc>Acc		pyruvate carboxylase	Biotin(DB00121)|Pyruvic acid(DB00119)						122	125	124					11																	66638642		2200	4295	6495	SO:0001583	missense	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66638642C>T	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.514G>A	11.37:g.66638642C>T	ENSP00000377530:p.Ala172Thr					PC_ENST00000393955.2_Missense_Mutation_p.A172T|PC_ENST00000524491.1_Missense_Mutation_p.A132T|PC_ENST00000355677.3_Missense_Mutation_p.A172T|PC_ENST00000393958.2_Missense_Mutation_p.A172T	p.A172T	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	7	795	-		Melanoma(852;0.0525)	172			ATP-grasp.|Biotin carboxylation.		B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	c.514G>A	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611298	0.46631	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960;ENST00000524491;ENST00000355677	D;D;D;D;D	0.97772	-4.53;-4.53;-4.53;-4.53;-4.53	5.35	0.917	0.19380	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.280748	0.33610	N	0.004721	D	0.91472	0.7308	N	0.13272	0.32	0.25049	N	0.991147	B	0.06786	0.001	B	0.11329	0.006	D	0.84620	0.0683	10	0.51188	T	0.08	-22.3962	3.8827	0.09085	0.407:0.3854:0.126:0.0816	.	172	P11498	PYC_HUMAN	T	172;172;172;132;172	ENSP00000377527:A172T;ENSP00000377530:A172T;ENSP00000377532:A172T;ENSP00000434192:A132T;ENSP00000347900:A172T	ENSP00000347900:A172T	A	-	1	0	PC	66395218	0.018000	0.18449	0.594000	0.28785	0.755000	0.42902	0.226000	0.17776	0.566000	0.29273	0.655000	0.94253	GCC		0.622	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		12	130	0	0	0	0.411799	0	12	130					T	66638642	C	T	66638642	3	4	7	1	0	0	0	0	1	0	0	0	11497	710	25	2	3090	2	PC	11	66638642	Missense_Mutation	SNP	C	TCGA-BJ-A0ZA-01A-11D-A10S-08		66638642	68367874	11	229											
AMOTL1	154810	broad.mit.edu	37	chr11	94592844	94592844	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagagcaccatccgacactTtgccatgaatgccgcagcca	10	14	0	2			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr11:94592844T>G	ENST00000433060.2	+	9	2240	c.2099T>G	c.(2098-2100)tTt>tGt	p.F700C	AMOTL1_ENST00000317837.9_Intron|AMOTL1_ENST00000317829.8_Missense_Mutation_p.F650C	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	700					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				ATCCGACACTTTGCCATGAAT	0.522																																						ENST00000433060.2																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36						c.(2098-2100)tTt>tGt		angiomotin like 1							30	35	33					11																	94592844		2197	4298	6495	SO:0001583	missense	154810					cytoplasm|tight junction	identical protein binding	g.chr11:94592844T>G	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"junction-enriched and associated protein"	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.2099T>G	11.37:g.94592844T>G	ENSP00000387739:p.Phe700Cys					AMOTL1_ENST00000317837.9_Intron|AMOTL1_ENST00000317829.8_Missense_Mutation_p.F650C	p.F700C	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN			9	2240	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	700					Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	ENST00000433060.2	37	c.2099T>G	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	T	18.09	3.546648	0.65198	.	.	ENSG00000166025	ENST00000317829;ENST00000433060	T;T	0.22539	1.97;1.95	6.08	6.08	0.98989	Angiomotin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.44623	0.1302	M	0.62266	1.93	0.80722	D	1	D;D	0.55605	0.972;0.971	D;D	0.67548	0.943;0.952	T	0.25572	-1.0128	10	0.56958	D	0.05	-20.5464	16.6438	0.85155	0.0:0.0:0.0:1.0	.	650;700	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	C	650;700	ENSP00000320968:F650C;ENSP00000387739:F700C	ENSP00000320968:F650C	F	+	2	0	AMOTL1	94232492	1.000000	0.71417	0.974000	0.42286	0.146000	0.21551	7.815000	0.86186	2.333000	0.79357	0.533000	0.62120	TTT		0.522	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		3	21	0	0	0	0.150653	0	3	21					G	94592844	T	G	94592844	3	3	7	1	0	0	0	0	1	0	0	0	583	1841	64	5	2133	5	AMOTL1	11	94592844	Missense_Mutation	SNP	T	TCGA-BJ-A0ZA-01A-11D-A10S-08	27954202	94592844	40413672	12	230											
TBX5	6910	broad.mit.edu	37	chr12	114793765	114793765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagctggcatacatgcaagCttgccgctgtgccgactctg	12	12	1	1			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr12:114793765C>T	ENST00000310346.4	-	9	1795	c.1129G>A	c.(1129-1131)Gct>Act	p.A377T	TBX5_ENST00000349716.5_Missense_Mutation_p.A327T|TBX5_ENST00000405440.2_Missense_Mutation_p.A377T	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	377					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TACATGCAAGCTTGCCGCTGT	0.602																																					NSCLC(152;1358 1980 4050 23898 40356)	ENST00000310346.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1129-1131)Gct>Act		T-box 5							92	80	84					12																	114793765		2203	4300	6503	SO:0001583	missense	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114793765C>T	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"T-boxes"	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1129G>A	12.37:g.114793765C>T	ENSP00000309913:p.Ala377Thr					TBX5_ENST00000349716.5_Missense_Mutation_p.A327T|TBX5_ENST00000405440.2_Missense_Mutation_p.A377T	p.A377T	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	9	1795	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		377					A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	c.1129G>A	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	C	33	5.219195	0.95104	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440	T;T;T	0.49720	0.77;0.77;0.77	5.27	5.27	0.74061	.	0.109140	0.64402	D	0.000007	T	0.71384	0.3333	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.72083	-0.4397	10	0.41790	T	0.15	.	18.8889	0.92391	0.0:1.0:0.0:0.0	.	377	Q99593	TBX5_HUMAN	T	327;377;274;377	ENSP00000337723:A327T;ENSP00000309913:A377T;ENSP00000384152:A377T	ENSP00000309913:A377T	A	-	1	0	TBX5	113278148	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.487000	0.81328	2.463000	0.83235	0.655000	0.94253	GCT		0.602	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		62	89	0	0	0	0.870114	0	62	89					T	114793765	C	T	114793765	3	4	7	1	0	0	0	0	1	0	0	0	15658	797	28	2	431	2	TBX5	12	114793765	Missense_Mutation	SNP	C	TCGA-BJ-A0ZA-01A-11D-A10S-08		114793765	19058130	13	231											
DNAH10	196385	broad.mit.edu	37	chr12	124408831	124408831	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgttgtgattaggaaacaTttccctggagaaaagcaaaa	9	6	1	2			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr12:124408831T>C	ENST00000409039.3	+	66	11289	c.11264T>C	c.(11263-11265)aTt>aCt	p.I3755T	RP11-380L11.4_ENST00000602952.1_RNA|CCDC92_ENST00000544798.1_5'UTR	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3755					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTAGGAAACATTTCCCTGGAG	0.413																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(11263-11265)aTt>aCt		dynein, axonemal, heavy chain 10							63	63	63					12																	124408831		1855	4116	5971	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124408831T>C	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.11264T>C	12.37:g.124408831T>C	ENSP00000386770:p.Ile3755Thr					CCDC92_ENST00000544798.1_5'UTR	p.I3755T	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	66	11289	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		3755					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.11264T>C	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	T	12.28	1.891959	0.33442	.	.	ENSG00000197653	ENST00000409039	D	0.86097	-2.07	4.96	4.96	0.65561	.	0.220799	0.39146	N	0.001443	T	0.81064	0.4745	L	0.48174	1.505	0.80722	D	1	B	0.15930	0.015	B	0.14023	0.01	T	0.76664	-0.2876	10	0.35671	T	0.21	.	14.6352	0.68682	0.0:0.0:0.0:1.0	.	3755	Q8IVF4	DYH10_HUMAN	T	3755	ENSP00000386770:I3755T	ENSP00000386770:I3755T	I	+	2	0	DNAH10	122974784	1.000000	0.71417	1.000000	0.80357	0.504000	0.33889	7.676000	0.84012	1.840000	0.53500	0.459000	0.35465	ATT		0.413	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			5	11	0	0	0	0.184627	0	5	11					C	124408831	T	C	124408831	3	2	7	1	0	0	0	0	1	0	0	0	4598	1493	52	3	11526	3	DNAH10	12	124408831	Missense_Mutation	SNP	T	TCGA-BJ-A0ZA-01A-11D-A10S-08	9615066	124408831	9443064	14	232											
HS3ST2	9956	broad.mit.edu	37	chr16	22926609	22926609	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttcgtcagtggcgagcgacTcatcactgacccggccggcg	13	15	3	1			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr16:22926609T>A	ENST00000261374.3	+	2	1264	c.830T>A	c.(829-831)cTc>cAc	p.L277H		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	277					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)	p.L277H(1)		breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		GGCGAGCGACTCATCACTGAC	0.557																																						ENST00000261374.3																			1	Substitution - Missense(1)	p.L277H(1)	kidney(1)	breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19						c.(829-831)cTc>cAc		heparan sulfate (glucosamine) 3-O-sulfotransferase 2							102	100	101					16																	22926609		2197	4300	6497	SO:0001583	missense	9956					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity	g.chr16:22926609T>A	AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"Sulfotransferases, membrane-bound"	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.830T>A	16.37:g.22926609T>A	ENSP00000261374:p.Leu277His						p.L277H	NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN		GBM - Glioblastoma multiforme(48;0.0299)	2	1264	+			277					Q52LZ1	Missense_Mutation	SNP	ENST00000261374.3	37	c.830T>A	CCDS10606.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.579601	0.86645	.	.	ENSG00000122254	ENST00000261374;ENST00000540146	T	0.65178	-0.14	5.21	5.21	0.72293	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.82332	0.5014	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86335	0.1701	10	0.87932	D	0	.	14.2988	0.66331	0.0:0.0:0.0:1.0	.	277	Q9Y278	HS3S2_HUMAN	H	277;285	ENSP00000261374:L277H	ENSP00000261374:L277H	L	+	2	0	HS3ST2	22834110	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.040000	0.89188	1.972000	0.57404	0.459000	0.35465	CTC		0.557	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043		8	218	0	0	0	0.335167	0	8	218					A	22926609	T	A	22926609	3	1	7	1	0	0	0	0	1	0	0	0	7364	1551	54	5	836	5	HS3ST2	16	22926609	Missense_Mutation	SNP	T	TCGA-BJ-A0ZA-01A-11D-A10S-08		22926609	67428144	15	233											
BBS2	583	broad.mit.edu	37	chr16	56539933	56539933	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcaaaagcatgaatgctcaTggcatgatttttcgactgaa	9	7	2	3			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr16:56539933T>C	ENST00000245157.5	-	7	1153	c.733A>G	c.(733-735)Atg>Gtg	p.M245V	BBS2_ENST00000561951.1_5'UTR|BBS2_ENST00000568104.1_Missense_Mutation_p.M245V	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	245					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TGAATGCTCATGGCATGATTT	0.343									Bardet-Biedl syndrome																													ENST00000245157.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						c.(733-735)Atg>Gtg		Bardet-Biedl syndrome 2							87	86	86					16																	56539933		2198	4300	6498	SO:0001583	missense	583	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding	g.chr16:56539933T>C	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.733A>G	16.37:g.56539933T>C	ENSP00000245157:p.Met245Val					BBS2_ENST00000568104.1_Missense_Mutation_p.M245V|BBS2_ENST00000561951.1_5'UTR	p.M245V	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN			7	1153	-			245					Q96CM0|Q96SN9	Missense_Mutation	SNP	ENST00000245157.5	37	c.733A>G	CCDS32451.1	.	.	.	.	.	.	.	.	.	.	T	0.154	-1.088251	0.01873	.	.	ENSG00000125124	ENST00000245157	D	0.83992	-1.79	5.7	2.22	0.28083	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.068649	0.85682	N	0.000000	T	0.56978	0.2022	N	0.03294	-0.36	0.51233	D	0.999916	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.52480	-0.8570	10	0.02654	T	1	-8.716	9.591	0.39545	0.0:0.2024:0.0:0.7976	.	245;245	A8K0N9;Q9BXC9	.;BBS2_HUMAN	V	245	ENSP00000245157:M245V	ENSP00000245157:M245V	M	-	1	0	BBS2	55097434	0.996000	0.38824	1.000000	0.80357	0.590000	0.36582	2.063000	0.41423	0.452000	0.26830	-0.250000	0.11733	ATG		0.343	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	NM_031885		4	76	0	0	0	0.150653	0	4	76					C	56539933	T	C	56539933	3	2	7	1	0	0	0	0	1	0	0	0	1338	1464	51	3	1476	3	BBS2	16	56539933	Missense_Mutation	SNP	T	TCGA-BJ-A0ZA-01A-11D-A10S-08	33613324	56539933	33814820	16	234											
DHX8	1659	broad.mit.edu	37	chr17	41570183	41570183	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgatcacgttccaggacccGggagaggaataaagtgaagt	13	8	1	2	rs559076556		TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr17:41570183G>T	ENST00000262415.3	+	6	710	c.638G>T	c.(637-639)cGg>cTg	p.R213L	DHX8_ENST00000540306.1_Missense_Mutation_p.R213L	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	213	Arg/Ser-rich (RS domain).				ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TCCAGGACCCGGGAGAGGAAT	0.547																																					NSCLC(56;1548 1661 49258 49987)	ENST00000262415.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(637-639)cGg>cTg		DEAH (Asp-Glu-Ala-His) box polypeptide 8							135	142	140					17																	41570183		2203	4300	6503	SO:0001583	missense	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41570183G>T	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"DEAH-boxes"	2749	protein-coding gene	gene with protein product		600396	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.638G>T	17.37:g.41570183G>T	ENSP00000262415:p.Arg213Leu					DHX8_ENST00000540306.1_Missense_Mutation_p.R213L	p.R213L	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	6	710	+		Breast(137;0.00908)	213			Arg/Ser-rich (RS domain).			Missense_Mutation	SNP	ENST00000262415.3	37	c.638G>T	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	G	9.042	0.990002	0.18966	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.61859	0.07;0.07	5.28	2.25	0.28309	.	0.062515	0.64402	D	0.000012	T	0.45377	0.1339	L	0.43923	1.385	0.40007	D	0.975231	B;B	0.19200	0.034;0.02	B;B	0.22753	0.041;0.012	T	0.25502	-1.0130	10	0.32370	T	0.25	.	8.0555	0.30602	0.3097:0.0:0.6903:0.0	.	213;213	F5H658;Q14562	.;DHX8_HUMAN	L	213	ENSP00000437886:R213L;ENSP00000262415:R213L	ENSP00000262415:R213L	R	+	2	0	DHX8	38925709	1.000000	0.71417	0.985000	0.45067	0.015000	0.08874	3.431000	0.52814	0.247000	0.21414	-0.768000	0.03414	CGG		0.547	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			55	161	1	0	8.13277e-46	0.870114	8.97409e-46	55	161					T	41570183	G	T	41570183	3	4	7	1	0	0	0	0	1	0	0	0	4515	1116	39	4	660	4	DHX8	17	41570183	Missense_Mutation	SNP	G	TCGA-BJ-A0ZA-01A-11D-A10S-08		41570183	39625027	17	235											
DSC2	1824	broad.mit.edu	37	chr18	28662246	28662246	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcattggttttggcatctgtTacaattttaaaattgccatt	6	6	2	0			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr18:28662246T>C	ENST00000280904.6	-	9	1664	c.1221A>G	c.(1219-1221)gtA>gtG	p.V407V	DSC2_ENST00000251081.6_Silent_p.V407V	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	407	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TGGCATCTGTTACAATTTTAA	0.308																																						ENST00000280904.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(1219-1221)gtA>gtG		desmocollin 2							88	91	90					18																	28662246		2202	4295	6497	SO:0001819	synonymous_variant	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28662246T>C	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"Cadherins / Major cadherins"	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.1221A>G	18.37:g.28662246T>C						DSC2_ENST00000251081.6_Silent_p.V407V	p.V407V	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		9	1664	-			407			Cadherin 3.			Silent	SNP	ENST00000280904.6	37	c.1221A>G	CCDS11892.1																																																																																				0.308	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		3	98	0	0	0	0.150653	0	3	98					C	28662246	T	C	28662246	2	2	7	1	0	0	0	0	0	0	0	1	4766	1741	61	3		3	DSC2	18	28662246	Silent	SNP	T	TCGA-BJ-A0ZA-01A-11D-A10S-08		28662246	49415002	18	236											
MAPRE2	10982	broad.mit.edu	37	chr18	32677460	32677460	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttccctggctgcattagtTtgaagaaagtaaaatttcaa	7	7	2	2			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr18:32677460T>C	ENST00000300249.5	+	3	481	c.301T>C	c.(301-303)Ttg>Ctg	p.L101L	MAPRE2_ENST00000413393.1_Silent_p.L58L|MAPRE2_ENST00000538170.2_Silent_p.L48L|MAPRE2_ENST00000589699.1_Silent_p.L58L|MAPRE2_ENST00000588910.1_Silent_p.L101L|MAPRE2_ENST00000436190.2_Silent_p.L89L	NM_014268.3	NP_055083.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	101	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						CTGCATTAGTTTGAAGAAAGT	0.403																																						ENST00000436190.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						c.(265-267)Ttg>Ctg		microtubule-associated protein, RP/EB family, member 2							99	93	95					18																	32677460		2203	4300	6503	SO:0001819	synonymous_variant	10982				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding	g.chr18:32677460T>C	X94232	CCDS11910.1, CCDS45850.1, CCDS45851.1, CCDS58619.1	18q12.1	2013-01-17			ENSG00000166974	ENSG00000166974			6891	protein-coding gene	gene with protein product	"APC-binding protein EB1"	605789				9233623, 12475954	Standard	NM_001143826		Approved	RP1, EB1, EB2	uc010xcc.3	Q15555	OTTHUMG00000132551	ENST00000300249.5:c.301T>C	18.37:g.32677460T>C						MAPRE2_ENST00000413393.1_Silent_p.L58L|MAPRE2_ENST00000538170.2_Silent_p.L48L|MAPRE2_ENST00000588910.1_Silent_p.L101L|MAPRE2_ENST00000589699.1_Silent_p.L58L|MAPRE2_ENST00000300249.5_Silent_p.L101L	p.L89L	NM_001143827.2	NP_001137299.1	Q15555	MARE2_HUMAN			4	539	+			101			CH.		B2RE21|B3KR39|B4DJV4|B7Z2L3|E9PHR3|F5H1V8|G5E9I6|Q9UQ33	Silent	SNP	ENST00000300249.5	37	c.265T>C	CCDS11910.1																																																																																				0.403	MAPRE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255753.2	NM_014268		3	92	0	0	0	0.115264	0	3	92					C	32677460	T	C	32677460	2	2	7	1	0	0	0	0	0	0	0	1	9295	1838	64	3		3	MAPRE2	18	32677460	Silent	SNP	T	TCGA-BJ-A0ZA-01A-11D-A10S-08	4015214	32677460	45399788	19	237											
HNF4A	3172	broad.mit.edu	37	chr20	43034729	43034729	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagaaggcaccaacctcaaCgcgcccaacagcctgggtgt	10	15	2	1	rs570058788		TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr20:43034729C>T	ENST00000316099.4	+	2	236	c.147C>T	c.(145-147)aaC>aaT	p.N49N	HNF4A_ENST00000415691.2_Silent_p.N49N|HNF4A_ENST00000443598.2_Silent_p.N49N|HNF4A_ENST00000316673.4_Silent_p.N27N|HNF4A_ENST00000457232.1_Silent_p.N27N|MIR3646_ENST00000578301.1_RNA|HNF4A_ENST00000609795.1_Silent_p.N27N	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	49					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCAACCTCAACGCGCCCAACA	0.627																																					Colon(79;2 1269 8820 14841 52347)	ENST00000316099.3																			0				endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34						c.(145-147)aaC>aaT		hepatocyte nuclear factor 4, alpha							143	142	142					20																	43034729		2203	4300	6503	SO:0001819	synonymous_variant	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43034729C>T	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"Nuclear hormone receptors"	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.147C>T	20.37:g.43034729C>T						HNF4A_ENST00000457232.1_Silent_p.N27N|HNF4A_ENST00000443598.2_Silent_p.N49N|HNF4A_ENST00000415691.1_Silent_p.N49N	p.N49N	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		2	236	+		Myeloproliferative disorder(115;0.0122)	49					A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Silent	SNP	ENST00000316099.4	37	c.147C>T	CCDS13330.1																																																																																				0.627	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			6	286	0	0	0	0.248553	0	6	286					T	43034729	C	T	43034729	2	4	7	1	0	0	0	0	0	0	0	1	7253	535	19	1		1	HNF4A	20	43034729	Silent	SNP	C	TCGA-BJ-A0ZA-01A-11D-A10S-08		43034729	19990791	20	238											
CSF3R	1441	broad.mit.edu	37	chr1	36937076	36937076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggagtgggacgagaggtccCggctgagttataggccacaa	16	9	0	2			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr1:36937076C>T	ENST00000373106.1	-	10	1790	c.1243G>A	c.(1243-1245)Ggg>Agg	p.G415R	CSF3R_ENST00000373104.1_Missense_Mutation_p.G415R|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000361632.4_Missense_Mutation_p.G415R|CSF3R_ENST00000338937.5_Missense_Mutation_p.G415R|CSF3R_ENST00000440588.2_Missense_Mutation_p.G415R|CSF3R_ENST00000331941.5_Missense_Mutation_p.G415R|CSF3R_ENST00000418048.2_Missense_Mutation_p.G415R|CSF3R_ENST00000373103.1_Missense_Mutation_p.G415R	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	415	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CGAGAGGTCCCGGCTGAGTTA	0.592																																						ENST00000373103.1																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1243-1245)Ggg>Agg		colony stimulating factor 3 receptor (granulocyte)	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						101	109	106					1																	36937076		2203	4300	6503	SO:0001583	missense	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36937076C>T	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"CD molecules", "Fibronectin type III domain containing"	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.1243G>A	1.37:g.36937076C>T	ENSP00000362198:p.Gly415Arg					CSF3R_ENST00000418048.2_Missense_Mutation_p.G415R|CSF3R_ENST00000373104.1_Missense_Mutation_p.G415R|CSF3R_ENST00000373106.1_Missense_Mutation_p.G415R|CSF3R_ENST00000361632.4_Missense_Mutation_p.G415R|CSF3R_ENST00000338937.5_Missense_Mutation_p.G415R|CSF3R_ENST00000331941.5_Missense_Mutation_p.G415R|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000440588.2_Missense_Mutation_p.G415R	p.G415R	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN			10	1790	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	415			Fibronectin type-III 3.			Missense_Mutation	SNP	ENST00000373106.1	37	c.1243G>A	CCDS413.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345319	0.61073	.	.	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.3	4.36	0.52297	Long hematopoietin receptor, Gp130 family 2, conserved site (1);Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.130398	0.27811	N	0.017752	T	0.69744	0.3145	M	0.84585	2.705	0.45378	D	0.998369	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;1.0	T	0.73965	-0.3816	10	0.87932	D	0	-13.8365	11.1808	0.48627	0.1837:0.8163:0.0:0.0	.	415;415;415;415	E1B6W6;Q99062-3;Q99062;Q99062-4	.;.;CSF3R_HUMAN;.	R	415	ENSP00000362198:G415R;ENSP00000362196:G415R;ENSP00000362195:G415R;ENSP00000355406:G415R;ENSP00000332180:G415R;ENSP00000401588:G415R;ENSP00000345013:G415R;ENSP00000397568:G415R	ENSP00000332180:G415R	G	-	1	0	CSF3R	36709663	0.987000	0.35691	0.830000	0.32933	0.616000	0.37450	2.893000	0.48633	1.188000	0.43014	0.561000	0.74099	GGG		0.592	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		139	180	0	0	0	0.139131	0	139	180					T	36937076	C	T	36937076	3	4	8	1	0	0	0	0	1	0	0	0	3937	652	23	1	1489	1	CSF3R	1	36937076	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08		36937076	212313545	1	239											
KIF2C	11004	broad.mit.edu	37	chr1	45218850	45218850	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gcagtggctgaaataccattGaggatggtcagcgaggagat	15	6	1	3			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr1:45218850G>C	ENST00000372224.4	+	6	599	c.486G>C	c.(484-486)ttG>ttC	p.L162F	KIF2C_ENST00000372222.3_Missense_Mutation_p.L49F|KIF2C_ENST00000372218.4_Intron|KIF2C_ENST00000493027.1_Intron|KIF2C_ENST00000372217.1_Missense_Mutation_p.L108F	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	162	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					AAATACCATTGAGGATGGTCA	0.547																																						ENST00000372217.1																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34						c.(322-324)ttG>ttC		kinesin family member 2C							167	143	151					1																	45218850		2203	4300	6503	SO:0001583	missense	11004				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding	g.chr1:45218850G>C	U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"Kinesins"	6393	protein-coding gene	gene with protein product		604538	"kinesin-like 6 (mitotic centromere-associated kinesin)"	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.486G>C	1.37:g.45218850G>C	ENSP00000361298:p.Leu162Phe					KIF2C_ENST00000372218.4_Intron|KIF2C_ENST00000493027.1_Intron|KIF2C_ENST00000372224.4_Missense_Mutation_p.L162F|KIF2C_ENST00000372222.3_Missense_Mutation_p.L49F	p.L108F			Q99661	KIF2C_HUMAN			5	675	+	Acute lymphoblastic leukemia(166;0.155)		162			Globular (Potential).		B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	ENST00000372224.4	37	c.324G>C	CCDS512.1	.	.	.	.	.	.	.	.	.	.	g	8.684	0.905712	0.17760	.	.	ENSG00000142945	ENST00000372224;ENST00000455186;ENST00000372222;ENST00000372217	T;T;T;T	0.75367	-0.93;0.82;-0.91;-0.93	5.26	4.34	0.51931	.	0.743599	0.12513	N	0.462294	T	0.62221	0.2410	N	0.22421	0.69	0.30198	N	0.798913	B;B	0.11235	0.003;0.004	B;B	0.13407	0.009;0.005	T	0.60182	-0.7313	10	0.51188	T	0.08	.	11.0786	0.48047	0.0:0.0:0.8153:0.1847	.	108;162	Q99661-2;Q99661	.;KIF2C_HUMAN	F	162;153;49;108	ENSP00000361298:L162F;ENSP00000395050:L153F;ENSP00000361296:L49F;ENSP00000361291:L108F	ENSP00000361291:L108F	L	+	3	2	KIF2C	44991437	0.996000	0.38824	0.998000	0.56505	0.713000	0.41058	2.990000	0.49401	1.430000	0.47334	0.561000	0.74099	TTG		0.547	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1	NM_006845		3	135	0	0	0	0.009096	0	3	135					C	45218850	G	C	45218850	3	2	8	1	0	0	0	0	1	0	0	0	8299	1281	45	4	508	4	KIF2C	1	45218850	Missense_Mutation	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08	8281774	45218850	204031771	2	240			1	3		2	2	14	G		2.645592e-05
KIF2C	11004	broad.mit.edu	37	chr1	45218863	45218863	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taccattgaggatggtcagcGaggagatggaagagcaagtc	15	6	1	3			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr1:45218863G>A	ENST00000372224.4	+	6	612	c.499G>A	c.(499-501)Gag>Aag	p.E167K	KIF2C_ENST00000372222.3_Missense_Mutation_p.E54K|KIF2C_ENST00000372218.4_Intron|KIF2C_ENST00000493027.1_Intron|KIF2C_ENST00000372217.1_Missense_Mutation_p.E113K	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	167	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					GATGGTCAGCGAGGAGATGGA	0.532																																						ENST00000372217.1																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34						c.(337-339)Gag>Aag		kinesin family member 2C							181	152	162					1																	45218863		2203	4300	6503	SO:0001583	missense	11004				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding	g.chr1:45218863G>A	U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"Kinesins"	6393	protein-coding gene	gene with protein product		604538	"kinesin-like 6 (mitotic centromere-associated kinesin)"	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.499G>A	1.37:g.45218863G>A	ENSP00000361298:p.Glu167Lys					KIF2C_ENST00000372218.4_Intron|KIF2C_ENST00000493027.1_Intron|KIF2C_ENST00000372224.4_Missense_Mutation_p.E167K|KIF2C_ENST00000372222.3_Missense_Mutation_p.E54K	p.E113K			Q99661	KIF2C_HUMAN			5	688	+	Acute lymphoblastic leukemia(166;0.155)		167			Globular (Potential).		B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	ENST00000372224.4	37	c.337G>A	CCDS512.1	.	.	.	.	.	.	.	.	.	.	g	13.38	2.218800	0.39201	.	.	ENSG00000142945	ENST00000372224;ENST00000455186;ENST00000372222;ENST00000372217	T;T;T;T	0.74632	-0.82;1.01;-0.86;-0.85	5.26	3.41	0.39046	.	0.687289	0.13786	N	0.362853	T	0.52092	0.1713	N	0.14661	0.345	0.36991	D	0.894765	B;B	0.10296	0.001;0.003	B;B	0.04013	0.001;0.001	T	0.42447	-0.9451	10	0.08837	T	0.75	.	7.7959	0.29148	0.1853:0.0:0.8147:0.0	.	113;167	Q99661-2;Q99661	.;KIF2C_HUMAN	K	167;158;54;113	ENSP00000361298:E167K;ENSP00000395050:E158K;ENSP00000361296:E54K;ENSP00000361291:E113K	ENSP00000361291:E113K	E	+	1	0	KIF2C	44991450	0.997000	0.39634	1.000000	0.80357	0.805000	0.45488	1.050000	0.30404	0.818000	0.34468	0.561000	0.74099	GAG		0.532	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1	NM_006845		4	130	0	0	0	0.014758	0	4	130					A	45218863	G	A	45218863	3	1	8	1	0	0	0	0	1	0	0	0	8299	1059	37	1	521	1	KIF2C	1	45218863	Missense_Mutation	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08	13	45218863	204031758	3	241			1	3		2	2	14	G		2.645592e-05
ARHGAP29	9411	broad.mit.edu	37	chr1	94639989	94639989	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaattttctgtagagtttgCtggtcaaagccattaaattt	8	5	2	2			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr1:94639989C>T	ENST00000260526.6	-	23	3404	c.3222G>A	c.(3220-3222)caG>caA	p.Q1074Q	ARHGAP29_ENST00000482481.1_5'Flank	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	1074					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)		GTAGAGTTTGCTGGTCAAAGC	0.388																																						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.(3220-3222)caG>caA		Rho GTPase activating protein 29							152	148	149					1																	94639989		2203	4300	6503	SO:0001819	synonymous_variant	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94639989C>T		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.3222G>A	1.37:g.94639989C>T							p.Q1074Q	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	23	3404	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	1074					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Silent	SNP	ENST00000260526.6	37	c.3222G>A	CCDS748.1																																																																																				0.388	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		5	226	0	0	0	0.014758	0	5	226					T	94639989	C	T	94639989	2	4	8	1	0	0	0	0	0	0	0	1	878	796	28	2		2	ARHGAP29	1	94639989	Silent	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	49421126	94639989	154610632	4	242											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150531845	150531845	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gacggagttcaacgtgacttCtccgagcaactgttctcacc	9	13	3	1			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr1:150531845C>A	ENST00000369038.2	+	15	3047	c.2846C>A	c.(2845-2847)tCt>tAt	p.S949Y	ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.S949Y|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.S972Y|RP11-54A4.2_ENST00000442435.2_RNA			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	949	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			AACGTGACTTCTCCGAGCAAC	0.612											OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000271643.4																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32						c.(2845-2847)tCt>tAt		ADAMTS-like 4							125	93	104					1																	150531845		2203	4300	6503	SO:0001583	missense	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150531845C>A	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"thrombospondin repeat containing 1"	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.2846C>A	1.37:g.150531845C>A	ENSP00000358034:p.Ser949Tyr		OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1733	ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.S972Y|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.S949Y	p.S949Y	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		17	3082	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		949			TSP type-1 5.		B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	37	c.2846C>A	CCDS955.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.418645	0.42918	.	.	ENSG00000143382	ENST00000271643;ENST00000369039;ENST00000369038	T;T;T	0.61980	0.06;0.06;0.06	5.52	4.59	0.56863	.	.	.	.	.	T	0.54175	0.1842	L	0.38838	1.175	0.09310	N	1	D;D;D	0.67145	0.996;0.98;0.991	D;P;P	0.63381	0.914;0.844;0.837	T	0.48896	-0.8994	9	0.59425	D	0.04	.	7.6566	0.28379	0.1609:0.7536:0.0:0.0855	.	910;972;949	B7ZMJ3;F8WAD0;Q6UY14	.;.;ATL4_HUMAN	Y	949;972;949	ENSP00000271643:S949Y;ENSP00000358035:S972Y;ENSP00000358034:S949Y	ENSP00000271643:S949Y	S	+	2	0	ADAMTSL4	148798469	0.006000	0.16342	0.976000	0.42696	0.269000	0.26545	2.049000	0.41288	2.584000	0.87258	0.462000	0.41574	TCT		0.612	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		75	95	1	0	5.44642e-36	0.139131	5.88802e-36	75	95					A	150531845	C	A	150531845	3	1	8	1	0	0	0	0	1	0	0	0	277	913	32	4	2979	4	ADAMTSL4	1	150531845	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	55891856	150531845	98718776	5	243											
NES	10763	broad.mit.edu	37	chr1	156641203	156641203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcagtgactcttggtactctCcctttcccaggttctcttcc	6	15	4	1			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr1:156641203C>T	ENST00000368223.3	-	4	2909	c.2777G>A	c.(2776-2778)gGa>gAa	p.G926E		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	926	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTGGTACTCTCCCTTTCCCAG	0.527																																						ENST00000368223.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64						c.(2776-2778)gGa>gAa		nestin							137	151	146					1																	156641203		2203	4300	6503	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156641203C>T	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"Intermediate filaments type IV"	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.2777G>A	1.37:g.156641203C>T	ENSP00000357206:p.Gly926Glu						p.G926E	NM_006617.1	NP_006608.1	P48681	NEST_HUMAN			4	2909	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		926			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.2777G>A	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	C	8.650	0.897930	0.17686	.	.	ENSG00000132688	ENST00000368223	D	0.83163	-1.69	5.25	-10.1	0.00402	.	.	.	.	.	T	0.36386	0.0965	N	0.16903	0.455	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.16897	-1.0387	9	0.17832	T	0.49	.	5.0833	0.14668	0.0855:0.1734:0.1709:0.5702	.	926	P48681	NEST_HUMAN	E	926	ENSP00000357206:G926E	ENSP00000357206:G926E	G	-	2	0	NES	154907827	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-2.488000	0.00977	-2.110000	0.00837	-0.253000	0.11424	GGA		0.527	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		6	246	0	0	0	0.021553	0	6	246					T	156641203	C	T	156641203	3	4	8	1	0	0	0	0	1	0	0	0	10337	855	30	2	2092	2	NES	1	156641203	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	6109358	156641203	92609418	6	244											
CACNA1E	777	broad.mit.edu	37	chr1	181731728	181731728	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaactatttccgagacaccTggaatatctttgacttcatc	6	10	2	3			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr1:181731728T>C	ENST00000367573.2	+	33	4624	c.4624T>C	c.(4624-4626)Tgg>Cgg	p.W1542R	CACNA1E_ENST00000367567.4_Missense_Mutation_p.W1149R|CACNA1E_ENST00000367570.1_Missense_Mutation_p.W1542R|CACNA1E_ENST00000526775.1_Missense_Mutation_p.W1523R|CACNA1E_ENST00000357570.5_Missense_Mutation_p.W1493R|CACNA1E_ENST00000360108.3_Missense_Mutation_p.W1523R|CACNA1E_ENST00000358338.5_Missense_Mutation_p.W1474R	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1542					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)			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						CCGAGACACCTGGAATATCTT	0.363																																						ENST00000526775.1																			0				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.(4567-4569)Tgg>Cgg		calcium channel, voltage-dependent, R type, alpha 1E subunit							95	84	88					1																	181731728		1870	4107	5977	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181731728T>C	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.4624T>C	1.37:g.181731728T>C	ENSP00000356545:p.Trp1542Arg					CACNA1E_ENST00000358338.5_Missense_Mutation_p.W1474R|CACNA1E_ENST00000367570.1_Missense_Mutation_p.W1542R|CACNA1E_ENST00000367573.2_Missense_Mutation_p.W1542R|CACNA1E_ENST00000360108.3_Missense_Mutation_p.W1523R|CACNA1E_ENST00000367567.4_Missense_Mutation_p.W1149R|CACNA1E_ENST00000357570.5_Missense_Mutation_p.W1493R	p.W1523R	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			32	4732	+			1542					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.4567T>C	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.090197	0.76756	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.99176	-5.52;-5.52;-5.52;-5.52;-5.52;-5.52;-5.52	5.76	4.59	0.56863	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99474	0.9813	H	0.96239	3.79	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.91635	0.997;0.999;0.914	D	0.98252	1.0494	10	0.87932	D	0	.	12.8118	0.57643	0.0:0.0:0.1361:0.8639	.	1523;1542;1542	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	R	1542;1523;1493;1474;1149;1523;1542	ENSP00000356542:W1542R;ENSP00000434814:W1523R;ENSP00000350183:W1493R;ENSP00000351101:W1474R;ENSP00000356539:W1149R;ENSP00000353222:W1523R;ENSP00000356545:W1542R	ENSP00000350183:W1493R	W	+	1	0	CACNA1E	179998351	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.887000	0.87295	2.200000	0.70718	0.482000	0.46254	TGG		0.363	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		11	45	0	0	0	0.080935	0	11	45					C	181731728	T	C	181731728	3	2	8	1	0	0	0	0	1	0	0	0	2542	1580	55	3	4754	3	CACNA1E	1	181731728	Missense_Mutation	SNP	T	TCGA-BJ-A0ZB-01A-11D-A10S-08	25090525	181731728	67518893	7	245											
ELF3	1999	broad.mit.edu	37	chr1	201981484	201981484	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttgtcagcttccagctcttCtgatgagctcagttggatca	9	11	5	2			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr1:201981484C>T	ENST00000359651.3	+	3	3590	c.398C>T	c.(397-399)tCt>tTt	p.S133F	ELF3_ENST00000367284.5_Missense_Mutation_p.S133F|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000495848.1_3'UTR|ELF3_ENST00000367283.3_Missense_Mutation_p.S133F|RP11-465N4.4_ENST00000419190.1_RNA					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						TCCAGCTCTTCTGATGAGCTC	0.582																																						ENST00000359651.3																			0				breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						c.(397-399)tCt>tTt		E74-like factor 3 (ets domain transcription factor, epithelial-specific )							70	76	74					1																	201981484		2203	4300	6503	SO:0001583	missense	1999				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:201981484C>T	AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.398C>T	1.37:g.201981484C>T	ENSP00000352673:p.Ser133Phe					ELF3_ENST00000367283.3_Missense_Mutation_p.S133F|ELF3_ENST00000367284.5_Missense_Mutation_p.S133F|ELF3_ENST00000495848.1_3'UTR|RP11-510N19.5_ENST00000504773.1_RNA	p.S133F			P78545	ELF3_HUMAN			3	3590	+			133						Missense_Mutation	SNP	ENST00000359651.3	37	c.398C>T	CCDS1419.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.356067	0.61293	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044;ENST00000446188	T;T;T;T	0.52526	2.38;2.38;2.38;0.66	5.4	4.48	0.54585	Sterile alpha motif/pointed domain (1);	5.936500	0.00508	N	0.000165	T	0.59211	0.2177	L	0.50333	1.59	0.22305	N	0.999218	D	0.57257	0.979	P	0.53722	0.733	T	0.49818	-0.8899	10	0.15952	T	0.53	.	13.8186	0.63308	0.1533:0.8467:0.0:0.0	.	133	P78545	ELF3_HUMAN	F	133;133;133;133;131	ENSP00000352673:S133F;ENSP00000356253:S133F;ENSP00000356252:S133F;ENSP00000405162:S131F	ENSP00000311348:S133F	S	+	2	0	ELF3	200248107	0.010000	0.17322	0.021000	0.16686	0.139000	0.21198	1.510000	0.35790	1.262000	0.44165	-0.188000	0.12872	TCT		0.582	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087360.1	NM_004433		4	112	0	0	0	0.009096	0	4	112					T	201981484	C	T	201981484	3	4	8	1	0	0	0	0	1	0	0	0	5055	913	32	2	408	2	ELF3	1	201981484	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	20249756	201981484	47269137	8	246											
HHIPL2	79802	broad.mit.edu	37	chr1	222717148	222717148	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaccactcctacctgctcGgcaacaaagaagcgatgggt	9	14	0	1			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr1:222717148G>A	ENST00000343410.6	-	2	763	c.705C>T	c.(703-705)gcC>gcT	p.A235A		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	235					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CTACCTGCTCGGCAACAAAGA	0.622																																						ENST00000343410.6																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(703-705)gcC>gcT		HHIP-like 2							72	65	68					1																	222717148		2203	4300	6503	SO:0001819	synonymous_variant	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222717148G>A	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"KIAA1822-like"	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.705C>T	1.37:g.222717148G>A							p.A235A	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	2	763	-			235					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Silent	SNP	ENST00000343410.6	37	c.705C>T	CCDS1530.2																																																																																				0.622	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		10	86	0	0	0	0.069234	0	10	86					A	222717148	G	A	222717148	2	1	8	1	0	0	0	0	0	0	0	1	7094	1103	39	1		1	HHIPL2	1	222717148	Silent	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08	20735664	222717148	26533473	9	247											
CD207	50489	broad.mit.edu	37	chr2	71058862	71058862	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaccttgttgaatggcgtgTcatccacccaggaccagtcc	11	13	1	1			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr2:71058862T>C	ENST00000410009.3	-	5	851	c.806A>G	c.(805-807)gAc>gGc	p.D269G		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	269	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				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)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						GAATGGCGTGTCATCCACCCA	0.572																																						ENST00000410009.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						c.(805-807)gAc>gGc		CD207 molecule, langerin							127	137	134					2																	71058862		2051	4192	6243	SO:0001583	missense	50489				defense response to virus	endocytic vesicle|integral to membrane	mannose binding	g.chr2:71058862T>C	AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"C-type lectin domain containing", "CD molecules"	17935	protein-coding gene	gene with protein product		604862	"CD207 antigen, langerin"			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.806A>G	2.37:g.71058862T>C	ENSP00000386378:p.Asp269Gly						p.D269G	NM_015717.3	NP_056532.3	Q9UJ71	CLC4K_HUMAN			5	851	-			269			C-type lectin.			Missense_Mutation	SNP	ENST00000410009.3	37	c.806A>G		.	.	.	.	.	.	.	.	.	.	T	0.278	-0.988373	0.02162	.	.	ENSG00000116031	ENST00000410009	T	0.07021	3.23	4.78	-0.708	0.11241	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	1.204330	0.06002	N	0.648005	T	0.01835	0.0058	N	0.00300	-1.685	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.43621	-0.9380	10	0.02654	T	1	.	7.4699	0.27342	0.0:0.5137:0.0:0.4862	.	269	Q9UJ71	CLC4K_HUMAN	G	269	ENSP00000386378:D269G	ENSP00000386378:D269G	D	-	2	0	CD207	70912370	0.000000	0.05858	0.004000	0.12327	0.036000	0.12997	0.242000	0.18087	0.008000	0.14787	0.523000	0.50628	GAC		0.572	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	NM_015717		5	125	0	0	0	0.014758	0	5	125					C	71058862	T	C	71058862	3	2	8	1	0	0	0	0	1	0	0	0	2983	1667	58	3	188	3	CD207	2	71058862	Missense_Mutation	SNP	T	TCGA-BJ-A0ZB-01A-11D-A10S-08		71058862	172140511	10	248											
TTN	7273	broad.mit.edu	37	chr2	179408637	179408637	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgtgtattttccagcatcGtaccgattaactttgtccac	6	10	0	0	rs376532382		TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr2:179408637G>A	ENST00000591111.1	-	296	91535	c.91311C>T	c.(91309-91311)taC>taT	p.Y30437Y	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.Y23138Y|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.Y23013Y|TTN-AS1_ENST00000592600.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000589042.1_Silent_p.Y32078Y|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.Y23205Y|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.Y29510Y|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30437	Ig-like 137.				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)			TTCCAGCATCGTACCGATTAA	0.413																																						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.(96232-96234)taC>taT		titin		G	,,,	0,3854		0,0,1927	174	159	164		69039,88530,69414,69615	-7.1	0.9	2		164	1,8279		0,1,4139	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,6066	AA,AG,GG		0.0121,0.0,0.0082	,,,	23013/26927,29510/33424,23138/27052,23205/27119	179408637	1,12133	1927	4140	6067	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179408637G>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.91311C>T	2.37:g.179408637G>A						TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Silent_p.Y23205Y|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Silent_p.Y29510Y|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.Y23138Y|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Silent_p.Y30437Y|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Silent_p.Y23013Y	p.Y32078Y	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)		346	96458	-			30437			Fibronectin type-III 132.		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.96234C>T																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		44	74	0	0	0	0.11126	0	44	74					A	179408637	G	A	179408637	2	1	8	1	0	0	0	0	0	0	0	1	16732	1140	40	1		1	TTN	2	179408637	Silent	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08	108349775	179408637	63790736	11	249											
HTR2B	3357	broad.mit.edu	37	chr2	231973299	231973299	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gaggagaagcgtatctagtaGaatgattgatgaagactgaa	13	3	1	7			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr2:231973299G>C	ENST00000258400.3	-	4	1890	c.1378C>G	c.(1378-1380)Cta>Gta	p.L460V	PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000488354.1_3'UTR|PSMD1_ENST00000308696.6_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	460					activation of phospholipase C activity (GO:0007202)|behavior (GO:0007610)|calcium-mediated signaling (GO:0019722)|cardiac muscle hypertrophy (GO:0003300)|cellular calcium ion homeostasis (GO:0006874)|cellular response to temperature stimulus (GO:0071502)|cGMP biosynthetic process (GO:0006182)|embryonic morphogenesis (GO:0048598)|ERK1 and ERK2 cascade (GO:0070371)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|heart morphogenesis (GO:0003007)|intestine smooth muscle contraction (GO:0014827)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell death (GO:0060548)|neural crest cell differentiation (GO:0014033)|neural crest cell migration (GO:0001755)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphorylation (GO:0016310)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	drug binding (GO:0008144)|G-protein alpha-subunit binding (GO:0001965)|Ras GTPase activator activity (GO:0005099)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Amoxapine(DB00543)|Apomorphine(DB00714)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Dihydroergotamine(DB00320)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Lisuride(DB00589)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Ropinirole(DB00268)|Triflupromazine(DB00508)|Yohimbine(DB01392)	GTATCTAGTAGAATGATTGAT	0.393																																					Ovarian(155;1331 1891 12853 14038 34991)	ENST00000258400.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11						c.(1378-1380)Cta>Gta		5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)						93	87	89					2																	231973299		2203	4300	6503	SO:0001583	missense	3357				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity	g.chr2:231973299G>C		CCDS2483.1	2q36.3-q37.1	2012-08-08	2012-02-03		ENSG00000135914	ENSG00000135914		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5294	protein-coding gene	gene with protein product		601122	"5-hydroxytryptamine (serotonin) receptor 2B"			8143856	Standard	NM_000867		Approved	5-HT(2B), 5-HT2B	uc002vro.3	P41595	OTTHUMG00000133222	ENST00000258400.3:c.1378C>G	2.37:g.231973299G>C	ENSP00000258400:p.Leu460Val					PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000488354.1_3'UTR	p.L460V	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	4	1890	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)	460					B2R9D5|Q53TI1|Q62221|Q6P523	Missense_Mutation	SNP	ENST00000258400.3	37	c.1378C>G	CCDS2483.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.599835	0.28534	.	.	ENSG00000135914	ENST00000258400	T	0.60299	0.2	5.9	4.06	0.47325	.	0.202447	0.42964	D	0.000624	T	0.45657	0.1353	L	0.53249	1.67	0.39758	D	0.971984	P;P	0.42409	0.779;0.635	B;B	0.36766	0.232;0.14	T	0.41484	-0.9506	10	0.16896	T	0.51	.	9.3261	0.37993	0.2249:0.0:0.7751:0.0	.	275;460	B3VRC5;P41595	.;5HT2B_HUMAN	V	460	ENSP00000258400:L460V	ENSP00000258400:L460V	L	-	1	2	HTR2B	231681543	0.995000	0.38212	1.000000	0.80357	0.985000	0.73830	0.345000	0.19979	1.462000	0.47948	0.650000	0.86243	CTA		0.393	HTR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256957.2	NM_000867		3	72	0	0	0	0.115264	0	3	72					C	231973299	G	C	231973299	3	2	8	1	0	0	0	0	1	0	0	0	7442	933	33	4	71	4	HTR2B	2	231973299	Missense_Mutation	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08	52564662	231973299	11226074	12	250											
FANCD2	2177	broad.mit.edu	37	chr3	10091163	10091163	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtgttaaacccatctgctAtgatgatgaatgctgtcttt	8	7	2	3	rs376708399		TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr3:10091163A>G	ENST00000419585.1	+	17	1680	c.1519A>G	c.(1519-1521)Atg>Gtg	p.M507V	FANCD2_ENST00000287647.3_Missense_Mutation_p.M507V|FANCD2_ENST00000383806.1_Missense_Mutation_p.M507V|FANCD2_ENST00000383807.1_Missense_Mutation_p.M507V			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	507					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		CCCATCTGCTATGATGATGAA	0.418			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"D, Mis, N, F"	"Fanconi anemia, complementation group D2"			L		"AML, leukemia"			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(1519-1521)Atg>Gtg	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2		A	VAL/MET,VAL/MET	0,4402		0,0,2201	210	226	221		1519,1519	3.2	1.0	3		221	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	FANCD2	NM_001018115.1,NM_033084.3	21,21	0,1,6499	GG,GA,AA		0.0116,0.0,0.0077	benign,benign	507/1452,507/1472	10091163	1,12999	2201	4299	6500	SO:0001583	missense	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10091163A>G	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"Fanconi anemia, complementation groups"	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.1519A>G	3.37:g.10091163A>G	ENSP00000398754:p.Met507Val					FANCD2_ENST00000419585.1_Missense_Mutation_p.M507V|FANCD2_ENST00000383806.1_Missense_Mutation_p.M507V|FANCD2_ENST00000383807.1_Missense_Mutation_p.M507V	p.M507V	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	17	1612	+			507					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.1519A>G	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	A	11.02	1.516647	0.27123	0.0	1.16E-4	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.59	3.19	0.36642	.	0.205916	0.64402	N	0.000019	T	0.33411	0.0862	L	0.41710	1.295	0.31299	N	0.688489	B;B	0.20780	0.012;0.048	B;B	0.21360	0.034;0.034	T	0.27400	-1.0075	10	0.19590	T	0.45	.	7.3634	0.26760	0.7507:0.0:0.2493:0.0	.	507;507	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	V	507	ENSP00000287647:M507V;ENSP00000373318:M507V;ENSP00000373317:M507V;ENSP00000398754:M507V	ENSP00000287647:M507V	M	+	1	0	FANCD2	10066163	0.925000	0.31364	0.991000	0.47740	0.839000	0.47603	1.388000	0.34442	0.992000	0.38840	0.472000	0.43445	ATG		0.418	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			6	258	0	0	0	0.02938	0	6	258					G	10091163	A	G	10091163	3	3	8	1	0	0	0	0	1	0	0	0	5665	449	16	3	1581	3	FANCD2	3	10091163	Missense_Mutation	SNP	A	TCGA-BJ-A0ZB-01A-11D-A10S-08		10091163	187931267	13	251											
CAMKV	79012	broad.mit.edu	37	chr3	49899480	49899480	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccaggcctcaaactcacatCttgaggatgcctatctcgtt	7	14	4	1			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr3:49899480C>T	ENST00000477224.1	-	3	703	c.225G>A	c.(223-225)aaG>aaA	p.K75K	CAMKV_ENST00000488336.1_Silent_p.K75K|CAMKV_ENST00000498324.1_5'UTR|CAMKV_ENST00000296471.7_Silent_p.K75K|CAMKV_ENST00000466940.1_Silent_p.K75K|CAMKV_ENST00000467248.1_5'UTR|RN7SL217P_ENST00000584520.1_RNA|CAMKV_ENST00000463537.1_Silent_p.K75K			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	75	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AAACTCACATCTTGAGGATGC	0.597																																						ENST00000477224.1																			0				central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7						c.(223-225)aaG>aaA		CaM kinase-like vesicle-associated							61	65	64					3																	49899480		2203	4300	6503	SO:0001819	synonymous_variant	79012					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr3:49899480C>T	BC017363	CCDS33762.1	3p21.31	2005-03-04			ENSG00000164076	ENSG00000164076			28788	protein-coding gene	gene with protein product		614993				12477932	Standard	XM_005265478		Approved	MGC8407, VACAMKL	uc003cxt.1	Q8NCB2	OTTHUMG00000158288	ENST00000477224.1:c.225G>A	3.37:g.49899480C>T						CAMKV_ENST00000467248.1_5'UTR|CAMKV_ENST00000466940.1_Silent_p.K75K|CAMKV_ENST00000498324.1_5'UTR|CAMKV_ENST00000488336.1_Silent_p.K75K|CAMKV_ENST00000296471.7_Silent_p.K75K|CAMKV_ENST00000463537.1_Silent_p.K75K	p.K75K			Q8NCB2	CAMKV_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	3	703	-			75			Protein kinase.		A6NFD4|Q6FIB8|Q8NBS8|Q8NC85|Q8NDU4|Q8WTT8|Q9BQC9|Q9H0Q5	Silent	SNP	ENST00000477224.1	37	c.225G>A	CCDS33762.1																																																																																				0.597	CAMKV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350584.4	NM_024046		4	48	0	0	0	0.009096	0	4	48					T	49899480	C	T	49899480	2	4	8	1	0	0	0	0	0	0	0	1	2608	912	32	2		2	CAMKV	3	49899480	Silent	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	39808317	49899480	148122950	14	252											
TOPBP1	11073	broad.mit.edu	37	chr3	133329896	133329896	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tggattttttttctccatctCattgctgcaagtgctagtct	7	9	3	0			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr3:133329896C>G	ENST00000260810.5	-	25	4256	c.4125G>C	c.(4123-4125)atG>atC	p.M1375I		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1375					cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TTCTCCATCTCATTGCTGCAA	0.353								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	ENST00000260810.5																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(4123-4125)atG>atC	Other conserved DNA damage response genes	topoisomerase (DNA) II binding protein 1							222	217	219					3																	133329896		1881	4105	5986	SO:0001583	missense	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133329896C>G	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.4125G>C	3.37:g.133329896C>G	ENSP00000260810:p.Met1375Ile						p.M1375I	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN			25	4256	-			1375					B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	37	c.4125G>C	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.491816	0.64074	.	.	ENSG00000163781	ENST00000260810	T	0.12255	2.7	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.16471	0.0396	L	0.53249	1.67	0.80722	D	1	B	0.29115	0.233	B	0.20577	0.03	T	0.02313	-1.1178	10	0.35671	T	0.21	.	18.8928	0.92412	0.0:1.0:0.0:0.0	.	1375	Q92547	TOPB1_HUMAN	I	1375	ENSP00000260810:M1375I	ENSP00000260810:M1375I	M	-	3	0	TOPBP1	134812586	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.939000	0.56591	2.466000	0.83321	0.591000	0.81541	ATG		0.353	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		8	167	0	0	0	0.038147	0	8	167					G	133329896	C	G	133329896	3	3	8	1	0	0	0	0	1	0	0	0	16366	826	29	4	459	4	TOPBP1	3	133329896	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	83430416	133329896	64692534	15	253											
AMOTL2	51421	broad.mit.edu	37	chr3	134089564	134089564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttcagcatgctggaagtGcgggctgccgcgggcacggt	17	11	1	0			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr3:134089564G>A	ENST00000422605.2	-	2	878	c.712C>T	c.(712-714)Cac>Tac	p.H238Y	AMOTL2_ENST00000511759.1_Intron|AMOTL2_ENST00000514516.1_Missense_Mutation_p.H296Y|AMOTL2_ENST00000513145.1_Missense_Mutation_p.H238Y|AMOTL2_ENST00000249883.5_Missense_Mutation_p.H238Y			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	238					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						TGCTGGAAGTGCGGGCTGCCG	0.587																																						ENST00000514516.1																			0				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(886-888)Cac>Tac		angiomotin like 2							50	43	45					3																	134089564		2199	4297	6496	SO:0001583	missense	51421							g.chr3:134089564G>A	AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"Leman coiled-coil protein", "angiomotin-like protein 2"	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.712C>T	3.37:g.134089564G>A	ENSP00000409999:p.His238Tyr					AMOTL2_ENST00000422605.2_Missense_Mutation_p.H238Y|AMOTL2_ENST00000511759.1_Intron|AMOTL2_ENST00000513145.1_Missense_Mutation_p.H238Y|AMOTL2_ENST00000249883.5_Missense_Mutation_p.H238Y	p.H296Y	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN			2	1064	-			238					A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Missense_Mutation	SNP	ENST00000422605.2	37	c.886C>T		.	.	.	.	.	.	.	.	.	.	G	13.31	2.199017	0.38806	.	.	ENSG00000114019	ENST00000249883;ENST00000422605;ENST00000514516;ENST00000513145	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	4.69	2.69	0.31865	.	0.744361	0.13009	N	0.421055	T	0.13457	0.0326	N	0.14661	0.345	0.09310	N	1	B;B;B	0.13145	0.007;0.007;0.004	B;B;B	0.06405	0.002;0.002;0.001	T	0.16689	-1.0394	10	0.42905	T	0.14	-26.6143	5.4618	0.16622	0.2131:0.3074:0.4795:0.0	.	238;238;296	Q9Y2J4-3;Q9Y2J4-2;E9PHW3	.;.;.	Y	238;238;296;238	ENSP00000249883:H238Y;ENSP00000409999:H238Y;ENSP00000424765:H296Y;ENSP00000425475:H238Y	ENSP00000249883:H238Y	H	-	1	0	AMOTL2	135572254	0.981000	0.34729	0.597000	0.28824	0.622000	0.37654	2.767000	0.47637	1.082000	0.41137	0.455000	0.32223	CAC		0.587	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358149.1	NM_016201		6	85	0	0	0	0.02938	0	6	85					A	134089564	G	A	134089564	3	1	8	1	0	0	0	0	1	0	0	0	584	1319	46	2	1666	2	AMOTL2	3	134089564	Missense_Mutation	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08	759668	134089564	63932866	16	254											
ATR	545	broad.mit.edu	37	chr3	142268516	142268516	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agtagaacttgtaatgtcctCtgaaaaagaatgcaacaatt	7	6	1	3			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr3:142268516C>G	ENST00000350721.4	-	15	3098		c.e15-1		ATR_ENST00000383101.3_Splice_Site	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase						cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GTAATGTCCTCTGAAAAAGAA	0.343								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.e15-1	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							43	44	43					3																	142268516		2203	4299	6502	SO:0001630	splice_region_variant	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142268516C>G	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.2977-1G>C	3.37:g.142268516C>G						ATR_ENST00000383101.3_Splice_Site		NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			15	3098	-								Q59HB2|Q7KYL3|Q93051|Q9BXK4	Splice_Site	SNP	ENST00000350721.4	37		CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579462	0.86645	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7702	0.88489	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATR	143751206	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.317000	0.79018	2.635000	0.89317	0.655000	0.94253	.		0.343	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184	Intron	3	49	0	0	0	0.014758	0	3	49					G	142268516	C	G	142268516	5	3	8	1	0	0	0	0	0	0	1	0	1204	927	32	4	5090	4	ATR	3	142268516	Splice_Site	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	8178952	142268516	55753914	17	255											
PLCH1	23007	broad.mit.edu	37	chr3	155200705	155200705	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgactgacatgtgggcagtaGatacaatggtgtccccttgg	13	8	0	3			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr3:155200705G>C	ENST00000340059.7	-	23	3133	c.3134C>G	c.(3133-3135)tCt>tGt	p.S1045C	PLCH1_ENST00000414191.1_Missense_Mutation_p.S1007C|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.S1007C|PLCH1-AS2_ENST00000472913.1_RNA|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000460012.1_Missense_Mutation_p.S1007C	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1045					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTGGGCAGTAGATACAATGGT	0.463																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(3019-3021)tCt>tGt		phospholipase C, eta 1							163	158	159					3																	155200705		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155200705G>C	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.3134C>G	3.37:g.155200705G>C	ENSP00000345988:p.Ser1045Cys					PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.S1007C|PLCH1_ENST00000340059.7_Missense_Mutation_p.S1045C|PLCH1_ENST00000334686.6_Missense_Mutation_p.S1007C	p.S1007C			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	3377	-			1045					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.3020C>G	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.250529	0.22880	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.23950	1.88;1.89;1.88;1.88	5.57	2.79	0.32731	.	1.277270	0.05124	N	0.491303	T	0.19287	0.0463	N	0.20986	0.625	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.08055	0.003;0.002	T	0.27938	-1.0059	10	0.48119	T	0.1	.	6.6716	0.23072	0.1561:0.1461:0.6977:0.0	.	1007;1045	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	C	1007;1045;1007;1007	ENSP00000417502:S1007C;ENSP00000345988:S1045C;ENSP00000335469:S1007C;ENSP00000412977:S1007C	ENSP00000335469:S1007C	S	-	2	0	PLCH1	156683399	0.009000	0.17119	0.000000	0.03702	0.001000	0.01503	0.382000	0.20635	0.300000	0.22699	-0.229000	0.12294	TCT		0.463	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		3	177	0	0	0	0.115264	0	3	177					C	155200705	G	C	155200705	3	2	8	1	0	0	0	0	1	0	0	0	12037	942	33	4	1951	4	PLCH1	3	155200705	Missense_Mutation	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08	12932189	155200705	42821725	18	256											
TTC14	151613	broad.mit.edu	37	chr3	180328136	180328136	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaaagataccgtttaaatAcaaatcaaggagaatatgaa	7	5	1	3			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr3:180328136A>G	ENST00000296015.4	+	12	2251	c.2119A>G	c.(2119-2121)Aca>Gca	p.T707A	TTC14_ENST00000382584.4_Intron|TTC14_ENST00000412756.2_3'UTR	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	707							RNA binding (GO:0003723)			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CCGTTTAAATACAAATCAAGG	0.378																																						ENST00000296015.4																			0				endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45						c.(2119-2121)Aca>Gca		tetratricopeptide repeat domain 14							78	82	81					3																	180328136		2203	4299	6502	SO:0001583	missense	151613						RNA binding	g.chr3:180328136A>G	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"Tetratricopeptide (TTC) repeat domain containing"	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.2119A>G	3.37:g.180328136A>G	ENSP00000296015:p.Thr707Ala					TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000382584.4_Intron	p.T707A	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		12	2251	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		707					G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	ENST00000296015.4	37	c.2119A>G	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	A	9.764	1.170757	0.21621	.	.	ENSG00000163728	ENST00000296015	T	0.42513	0.97	6.04	-0.643	0.11482	.	0.387849	0.26089	N	0.026417	T	0.26268	0.0641	N	0.24115	0.695	0.23519	N	0.997509	P	0.43231	0.801	B	0.43990	0.438	T	0.13045	-1.0524	10	0.40728	T	0.16	-5.3662	5.6656	0.17693	0.5534:0.0:0.3275:0.1191	.	707	Q96N46	TTC14_HUMAN	A	707	ENSP00000296015:T707A	ENSP00000296015:T707A	T	+	1	0	TTC14	181810830	0.973000	0.33851	0.911000	0.35937	0.947000	0.59692	1.113000	0.31184	0.196000	0.20367	0.460000	0.39030	ACA		0.378	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		3	101	0	0	0	0.115264	0	3	101					G	180328136	A	G	180328136	3	3	8	1	0	0	0	0	1	0	0	0	16678	391	14	3	2195	3	TTC14	3	180328136	Missense_Mutation	SNP	A	TCGA-BJ-A0ZB-01A-11D-A10S-08	25127431	180328136	17694294	19	257											
GRID2	2895	broad.mit.edu	37	chr4	94693647	94693647	+	Nonstop_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaccgaggcacctccataTgagcatcaaacaaatctctt	6	13	2	2			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr4:94693647T>C	ENST00000282020.4	+	16	3280	c.3022T>C	c.(3022-3024)Tga>Cga	p.*1008R	GRID2_ENST00000510992.1_Nonstop_Mutation_p.*913R	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	0					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		CACCTCCATATGAGCATCAAA	0.403																																						ENST00000282020.4																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(3022-3024)Tga>Cga		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						52	50	51					4																	94693647		2203	4300	6503	SO:0001578	stop_lost	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94693647T>C	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.3022T>C	4.37:g.94693647T>C	ENSP00000282020:p.*1008Argext*29					GRID2_ENST00000510992.1_Nonstop_Mutation_p.*913R	p.*1008R	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	16	3280	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	0					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Nonstop_Mutation	SNP	ENST00000282020.4	37	c.3022T>C	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.004848	0.93287	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.23994	N	0.996237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.413	0.74943	0.0:0.0:0.0:1.0	.	.	.	.	R	1008;913	.	.	X	+	1	0	GRID2	94912670	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.662000	0.83803	2.038000	0.60285	0.455000	0.32223	TGA		0.403	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			25	61	0	0	0	0.108266	0	25	61					C	94693647	T	C	94693647	4	2	8	1	0	0	0	0	0	0	0	0	6772	1478	51	3	3084	3	GRID2	4	94693647	Nonstop_Mutation	SNP	T	TCGA-BJ-A0ZB-01A-11D-A10S-08		94693647	96460629	20	258											
ANK2	287	broad.mit.edu	37	chr4	114263046	114263046	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacaacaagaaaattttgctGaggtggccagaagcagggat	12	6	0	3			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr4:114263046G>A	ENST00000357077.4	+	33	4149	c.4096G>A	c.(4096-4098)Gag>Aag	p.E1366K	ANK2_ENST00000506722.1_Missense_Mutation_p.E1357K|ANK2_ENST00000264366.6_Missense_Mutation_p.E1333K|ANK2_ENST00000509550.1_Missense_Mutation_p.E542K|ANK2_ENST00000394537.3_Missense_Mutation_p.E1366K|ANK2_ENST00000510275.2_Missense_Mutation_p.E18K	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1366	UPA domain.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAATTTTGCTGAGGTGGCCAG	0.373																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(4096-4098)Gag>Aag		ankyrin 2, neuronal							86	83	84					4																	114263046		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114263046G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.4096G>A	4.37:g.114263046G>A	ENSP00000349588:p.Glu1366Lys					ANK2_ENST00000264366.6_Missense_Mutation_p.E1333K|ANK2_ENST00000510275.2_Missense_Mutation_p.E18K|ANK2_ENST00000506722.1_Missense_Mutation_p.E1357K|ANK2_ENST00000394537.3_Missense_Mutation_p.E1366K|ANK2_ENST00000509550.1_Missense_Mutation_p.E542K	p.E1366K	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	33	4149	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1333					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.4096G>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	36	5.648443	0.96714	.	.	ENSG00000145362	ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275	T;T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.54	5.54	0.83059	.	0.000000	0.51477	D	0.000084	T	0.63920	0.2552	M	0.87456	2.885	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.998;0.998;0.999;0.997;1.0;0.999	D;D;D;D;D;D;D	0.91635	0.97;0.993;0.979;0.993;0.971;0.999;0.997	T	0.69881	-0.5025	10	0.87932	D	0	.	19.4923	0.95056	0.0:0.0:1.0:0.0	.	542;1333;412;378;1366;1366;1357	E9PCH6;Q01484;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5	.;ANK2_HUMAN;.;.;.;.;.	K	1279;1357;412;1381;1366;1366;1333;1357;542;18	ENSP00000421011:E1279K;ENSP00000421067:E1357K;ENSP00000424722:E1381K;ENSP00000378044:E1366K;ENSP00000349588:E1366K;ENSP00000264366:E1333K;ENSP00000426944:E542K;ENSP00000421023:E18K	ENSP00000264366:E1333K	E	+	1	0	ANK2	114482495	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.607000	0.88179	0.650000	0.86243	GAG		0.373	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		12	102	0	0	0	0.105934	0	12	102					A	114263046	G	A	114263046	3	1	8	1	0	0	0	0	1	0	0	0	621	1291	45	2	4291	2	ANK2	4	114263046	Missense_Mutation	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08	19569399	114263046	76891230	21	259											
KIAA0922	23240	broad.mit.edu	37	chr4	154533507	154533507	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaagattcacaaaacatcTagagaagacatgttttctga	7	6	3	5			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr4:154533507T>C	ENST00000409663.3	+	26	3571	c.3519T>C	c.(3517-3519)tcT>tcC	p.S1173S	KIAA0922_ENST00000409959.3_Silent_p.S1174S|KIAA0922_ENST00000440693.1_Silent_p.S1090S	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1173						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				ACAAAACATCTAGAGAAGACA	0.343																																						ENST00000409663.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(3517-3519)tcT>tcC		KIAA0922							72	73	73					4																	154533507		2203	4299	6502	SO:0001819	synonymous_variant	23240					integral to membrane		g.chr4:154533507T>C	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.3519T>C	4.37:g.154533507T>C						KIAA0922_ENST00000409959.3_Silent_p.S1174S|KIAA0922_ENST00000440693.1_Silent_p.S1090S	p.S1173S	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN			26	3571	+	all_hematologic(180;0.093)	Renal(120;0.118)	1173					B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Silent	SNP	ENST00000409663.3	37	c.3519T>C	CCDS3783.2																																																																																				0.343	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		35	38	0	0	0	0.054565	0	35	38					C	154533507	T	C	154533507	2	2	8	1	0	0	0	0	0	0	0	1	8201	1509	53	3		3	KIAA0922	4	154533507	Silent	SNP	T	TCGA-BJ-A0ZB-01A-11D-A10S-08	40270461	154533507	36620769	22	260											
ETF1	2107	broad.mit.edu	37	chr5	137844496	137844496	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gctctcgataagctcatgttCctgtccggtctacagggatg	11	11	3	0			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr5:137844496C>G	ENST00000360541.5	-	10	1314	c.1093G>C	c.(1093-1095)Gaa>Caa	p.E365Q	ETF1_ENST00000503014.1_Missense_Mutation_p.E351Q|ETF1_ENST00000499810.2_Missense_Mutation_p.E332Q	NM_004730.3	NP_004721.1	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	365					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)|translation termination factor activity (GO:0008079)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGCTCATGTTCCTGTCCGGTC	0.433																																						ENST00000499810.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(994-996)Gaa>Caa		eukaryotic translation termination factor 1							91	90	90					5																	137844496		2203	4300	6503	SO:0001583	missense	2107				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific	g.chr5:137844496C>G	AF095901	CCDS4207.1, CCDS75313.1, CCDS75314.1	5q31.2	2008-02-05			ENSG00000120705	ENSG00000120705			3477	protein-coding gene	gene with protein product	"sup45 (yeast omnipotent suppressor 45) homolog-like 1", "polypeptide chain release factor 1"	600285		SUP45L1, ERF1, ERF		1546371, 7990965	Standard	NM_004730		Approved	eRF1, TB3-1, RF1	uc003ldc.5	P62495	OTTHUMG00000129199	ENST00000360541.5:c.1093G>C	5.37:g.137844496C>G	ENSP00000353741:p.Glu365Gln					ETF1_ENST00000360541.5_Missense_Mutation_p.E365Q|ETF1_ENST00000503014.1_Missense_Mutation_p.E351Q	p.E332Q			P62495	ERF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		10	1442	-			365					B2R6B4|D3DQC1|P46055|Q5M7Z7|Q96CG1	Missense_Mutation	SNP	ENST00000360541.5	37	c.994G>C	CCDS4207.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620976	0.66787	.	.	ENSG00000120705	ENST00000499810;ENST00000360541;ENST00000503014	.	.	.	6.17	5.31	0.75309	eRF1 domain 3 (1);	0.000000	0.85682	D	0.000000	T	0.79805	0.4509	M	0.85945	2.785	0.80722	D	1	P;B	0.39282	0.666;0.162	P;B	0.51833	0.681;0.242	T	0.79855	-0.1627	9	0.37606	T	0.19	-16.4685	15.2063	0.73180	0.0:0.9326:0.0:0.0674	.	351;365	B7Z7P8;P62495	.;ERF1_HUMAN	Q	332;365;351	.	ENSP00000353741:E365Q	E	-	1	0	ETF1	137872395	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.809000	0.86057	1.635000	0.50512	0.655000	0.94253	GAA		0.433	ETF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251276.2	NM_004730		8	161	0	0	0	0.038147	0	8	161					G	137844496	C	G	137844496	3	3	8	1	0	0	0	0	1	0	0	0	5268	864	30	4	228	4	ETF1	5	137844496	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08		137844496	43070764	23	261											
DBN1	1627	broad.mit.edu	37	chr5	176893800	176893800	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gactgctccttcaaccgcctCttggcctcttccgcttctaa	6	17	4	0			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr5:176893800C>G	ENST00000309007.5	-	8	963	c.744G>C	c.(742-744)aaG>aaC	p.K248N	DBN1_ENST00000393565.1_Missense_Mutation_p.K248N|DBN1_ENST00000292385.5_Missense_Mutation_p.K250N	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	248					actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	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)			TCAACCGCCTCTTGGCCTCTT	0.602																																						ENST00000292385.5																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25						c.(748-750)aaG>aaC		drebrin 1							177	188	184					5																	176893800		2203	4300	6503	SO:0001583	missense	1627				actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding	g.chr5:176893800C>G		CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.744G>C	5.37:g.176893800C>G	ENSP00000308532:p.Lys248Asn					DBN1_ENST00000309007.5_Missense_Mutation_p.K248N|DBN1_ENST00000393565.1_Missense_Mutation_p.K248N	p.K250N	NM_080881.2	NP_543157.1	Q16643	DREB_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1359	-	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	248					A8MV58|B2RBG0|Q9UFZ5	Missense_Mutation	SNP	ENST00000309007.5	37	c.750G>C	CCDS4420.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.532320	0.64972	.	.	ENSG00000113758	ENST00000309007;ENST00000292385;ENST00000393565;ENST00000477391	T;T;T	0.41065	1.01;1.01;1.01	4.99	3.06	0.35304	.	0.106793	0.64402	D	0.000010	T	0.54549	0.1865	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.71414	0.973;0.94;0.922;0.964	T	0.52215	-0.8605	10	0.39692	T	0.17	-30.8346	9.6929	0.40139	0.0:0.759:0.0:0.241	.	198;248;248;250	B3KSQ7;A8MV58;Q16643;Q16643-2	.;.;DREB_HUMAN;.	N	248;250;248;247	ENSP00000308532:K248N;ENSP00000292385:K250N;ENSP00000377195:K248N	ENSP00000292385:K250N	K	-	3	2	DBN1	176826406	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	0.665000	0.25083	1.328000	0.45358	0.655000	0.94253	AAG		0.602	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2	NM_080881		4	260	0	0	0	0.009096	0	4	260					G	176893800	C	G	176893800	3	3	8	1	0	0	0	0	1	0	0	0	4252	912	32	4	1233	4	DBN1	5	176893800	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	39049304	176893800	4021460	24	262											
TRIM52	84851	broad.mit.edu	37	chr5	180687578	180687578	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aacacctctcgaatggagccGtcccatccatccatggcccc	7	18	1	0			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr5:180687578G>C	ENST00000327767.4	-	1	541	c.237C>G	c.(235-237)gaC>gaG	p.D79E	TRIM52-AS1_ENST00000507434.1_RNA|CTC-338M12.4_ENST00000417281.2_RNA|TRIM52_ENST00000514805.1_5'UTR|CTC-338M12.4_ENST00000505151.1_RNA|TRIM52-AS1_ENST00000509252.1_RNA|CTC-338M12.4_ENST00000511331.1_RNA|TRIM52-AS1_ENST00000514146.1_RNA	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	tripartite motif containing 52	79	Glu-rich.				positive regulation of NF-kappaB transcription factor activity (GO:0051092)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		GAATGGAGCCGTCCCATCCAT	0.552																																						ENST00000327767.4																			0				endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						c.(235-237)gaC>gaG		tripartite motif containing 52							180	137	151					5																	180687578		2203	4300	6503	SO:0001583	missense	84851					intracellular	zinc ion binding	g.chr5:180687578G>C		CCDS4467.1	5q35.3	2013-01-09	2011-01-25		ENSG00000183718	ENSG00000183718		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19024	protein-coding gene	gene with protein product			"tripartite motif-containing 52"				Standard	NM_032765		Approved	RNF102	uc003mnp.3	Q96A61	OTTHUMG00000130964	ENST00000327767.4:c.237C>G	5.37:g.180687578G>C	ENSP00000332152:p.Asp79Glu					CTC-338M12.4_ENST00000511331.1_RNA|TRIM52_ENST00000514805.1_5'UTR	p.D79E	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)	1	541	-	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	79			Glu-rich.			Missense_Mutation	SNP	ENST00000327767.4	37	c.237C>G	CCDS4467.1	.	.	.	.	.	.	.	.	.	.	g	11.57	1.677239	0.29783	.	.	ENSG00000183718	ENST00000327767	T	0.21734	1.99	3.45	1.6	0.23607	Zinc finger, RING-type (1);	.	.	.	.	T	0.13841	0.0335	L	0.32530	0.975	0.09310	N	1	P	0.47034	0.889	B	0.41236	0.351	T	0.13176	-1.0519	8	.	.	.	.	4.7237	0.12931	0.2923:0.0:0.7077:0.0	.	79	Q96A61	TRI52_HUMAN	E	79	ENSP00000332152:D79E	.	D	-	3	2	TRIM52	180620184	0.001000	0.12720	0.002000	0.10522	0.265000	0.26407	0.534000	0.23098	0.750000	0.32877	0.511000	0.50034	GAC		0.552	TRIM52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253572.3	NM_032765		4	199	0	0	0	0.014758	0	4	199					C	180687578	G	C	180687578	3	2	8	1	0	0	0	0	1	0	0	0	16524	1136	40	4	664	4	TRIM52	5	180687578	Missense_Mutation	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08	3793778	180687578	227682	25	263											
MDC1	9656	broad.mit.edu	37	chr6	30681830	30681830	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttaaggctcccacagtctcgGaggataggtgccttgtccca	11	12	1	0			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr6:30681830G>A	ENST00000376406.3	-	3	914	c.267C>T	c.(265-267)ctC>ctT	p.L89L	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000494654.1_5'Flank|MDC1_ENST00000376405.2_Silent_p.L89L	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	89	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.|Interaction with CHEK2.|Interaction with the MRN complex.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						CACAGTCTCGGAGGATAGGTG	0.517								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(265-267)ctC>ctT	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							111	94	100					6																	30681830		1511	2709	4220	SO:0001819	synonymous_variant	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30681830G>A	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.267C>T	6.37:g.30681830G>A						MDC1_ENST00000376405.2_Silent_p.L89L	p.L89L	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			3	914	-			89			FHA.|Interaction with CHEK2.|Interaction with the MRN complex.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Silent	SNP	ENST00000376406.3	37	c.267C>T	CCDS34384.1																																																																																				0.517	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		4	98	0	0	0	0.014758	0	4	98					A	30681830	G	A	30681830	2	1	8	1	0	0	0	0	0	0	0	1	9403	1161	41	2		2	MDC1	6	30681830	Silent	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08		30681830	140433237	26	264											
ZBTB22	9278	broad.mit.edu	37	chr6	33283196	33283196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgttcacgtgccggtcccGcatgctcttgtgggagaagg	14	11	2	1			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr6:33283196G>A	ENST00000431845.2	-	2	1649	c.1498C>T	c.(1498-1500)Cgg>Tgg	p.R500W	TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.R500W|TAPBP_ENST00000489157.1_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	500					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.R500W(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						TGCCGGTCCCGCATGCTCTTG	0.567																																						ENST00000431845.2																			1	Substitution - Missense(1)	p.R500W(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						c.(1498-1500)Cgg>Tgg		zinc finger and BTB domain containing 22							148	149	149					6																	33283196		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33283196G>A	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13085	protein-coding gene	gene with protein product		611439	"zinc finger protein 297"	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.1498C>T	6.37:g.33283196G>A	ENSP00000407545:p.Arg500Trp					ZBTB22_ENST00000418724.1_Missense_Mutation_p.R500W	p.R500W	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN			2	1649	-			500					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	c.1498C>T	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.239020	0.58995	.	.	ENSG00000236104	ENST00000418724;ENST00000431845	T;T	0.76448	-1.02;-1.02	4.22	3.34	0.38264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.30547	N	0.009382	T	0.70622	0.3245	L	0.35854	1.095	0.54753	D	0.999986	D	0.63046	0.992	P	0.57502	0.822	T	0.74399	-0.3678	10	0.66056	D	0.02	.	11.0981	0.48157	0.0:0.0:0.8137:0.1863	.	500	O15209	ZBT22_HUMAN	W	500	ENSP00000404403:R500W;ENSP00000407545:R500W	ENSP00000404403:R500W	R	-	1	2	ZBTB22	33391174	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	1.498000	0.35660	0.961000	0.38030	0.448000	0.29417	CGG		0.567	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			5	245	0	0	0	0.014758	0	5	245					A	33283196	G	A	33283196	3	1	8	1	0	0	0	0	1	0	0	0	17527	1086	38	1	410	1	ZBTB22	6	33283196	Missense_Mutation	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08	2601366	33283196	137831871	27	265											
COPG2	26958	broad.mit.edu	37	chr7	130301860	130301860	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagtgaaacagataacttaCatcggtgatcctgcagagag	10	8	1	4			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr7:130301860C>A	ENST00000445977.2	-	6	489		c.e6+1					Q9UBF2	COPG2_HUMAN	coatomer protein complex, subunit gamma 2						intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)	structural molecule activity (GO:0005198)			large_intestine(1)	1	Melanoma(18;0.0435)					AGATAACTTACATCGGTGATC	0.403																																						ENST00000445977.2																			0				large_intestine(1)	1						c.e6+1		coatomer protein complex, subunit gamma 2							100	99	100					7																	130301860		1904	4125	6029	SO:0001630	splice_region_variant	26958				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat	protein binding|structural molecule activity	g.chr7:130301860C>A	AF157833	CCDS75662.1	7q32	2010-06-22			ENSG00000158623	ENSG00000158623			2237	protein-coding gene	gene with protein product	"coat protein, nonclathrin, gamma-2-cop"	604355				10556286, 10995575	Standard	NM_001290033		Approved	2-COP	uc003vqh.1	Q9UBF2	OTTHUMG00000155364	ENST00000445977.2:c.399+1G>T	7.37:g.130301860C>A										Q9UBF2	COPG2_HUMAN			6	489	-	Melanoma(18;0.0435)							A6NH74|Q2NLA0|Q54AC3|Q8WVW8	Splice_Site	SNP	ENST00000445977.2	37			.	.	.	.	.	.	.	.	.	.	C	21.9	4.219654	0.79464	.	.	ENSG00000158623	ENST00000445977;ENST00000330992	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7848	0.85571	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COPG2	129952397	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	7.700000	0.84556	2.364000	0.80123	0.555000	0.69702	.		0.403	COPG2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_012133	Intron	22	39	1	0	0.0624174	0.062417	0.0657025	22	39					A	130301860	C	A	130301860	5	1	8	1	0	0	0	0	0	0	1	0	3732	492	17	4	838	4	COPG2	7	130301860	Splice_Site	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08		130301860	28836803	28	266											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		38	63	0	0	0	0.086207	0	38	63					T	140453136	A	T	140453136	3	4	8	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A0ZB-01A-11D-A10S-08	10151276	140453136	18685527	29	267											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37720621	37720621	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcaaatgcagggtccgagGggctgtatttctttggaggg	16	6	1	0	rs367553328		TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr8:37720621G>A	ENST00000330843.4	-	6	3656	c.3644C>T	c.(3643-3645)cCc>cTc	p.P1215L	RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.P581L|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.P433L|RAB11FIP1_ENST00000523182.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1215	FIP-RBD. {ECO:0000255|PROSITE- ProRule:PRU00844}.				protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AGGGTCCGAGGGGCTGTATTT	0.448																																						ENST00000330843.4																			0				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(3643-3645)cCc>cTc		RAB11 family interacting protein 1 (class I)		G	LEU/PRO,LEU/PRO	1,4405		0,1,2202	74	80	78		3644,1742	6.0	1.0	8		78	0,8600		0,0,4300	no	missense,missense	RAB11FIP1	NM_001002814.2,NM_025151.4	98,98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	1215/1284,581/650	37720621	1,13005	2203	4300	6503	SO:0001583	missense	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37720621G>A	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.3644C>T	8.37:g.37720621G>A	ENSP00000331342:p.Pro1215Leu					RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.P581L|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.P433L	p.P1215L	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		6	3656	-		Lung NSC(58;0.118)|all_lung(54;0.195)	1215			FIP-RBD.		J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	37	c.3644C>T	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.840533	0.71488	2.27E-4	0.0	ENSG00000156675	ENST00000287263;ENST00000330843;ENST00000522727	T;T;T	0.33438	2.07;2.41;1.41	6.03	6.03	0.97812	Rab-binding domain FIP-RBD (1);	0.000000	0.64402	D	0.000016	T	0.51702	0.1690	L	0.46157	1.445	0.80722	D	1	D;D;P	0.76494	0.999;0.971;0.476	D;P;B	0.70935	0.971;0.859;0.394	T	0.38045	-0.9679	10	0.52906	T	0.07	-24.8904	20.5752	0.99366	0.0:0.0:1.0:0.0	.	433;581;1215	E7EX40;Q6WKZ4-3;Q6WKZ4	.;.;RFIP1_HUMAN	L	581;1215;433	ENSP00000287263:P581L;ENSP00000331342:P1215L;ENSP00000430009:P433L	ENSP00000287263:P581L	P	-	2	0	RAB11FIP1	37839779	1.000000	0.71417	0.989000	0.46669	0.520000	0.34377	6.469000	0.73555	2.868000	0.98415	0.557000	0.71058	CCC		0.448	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		5	134	0	0	0	0.021553	0	5	134					A	37720621	G	A	37720621	3	1	8	1	0	0	0	0	1	0	0	0	12893	1232	43	2	211	2	RAB11FIP1	8	37720621	Missense_Mutation	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08		37720621	108643401	30	268											
PRKDC	5591	broad.mit.edu	37	chr8	48772221	48772221	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tagggtcttgggagctgtatGaatagctctgaactccggtt	13	7	2	2			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr8:48772221G>C	ENST00000314191.2	-	47	6211	c.6155C>G	c.(6154-6156)tCa>tGa	p.S2052*	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Nonsense_Mutation_p.S2052*	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2053					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.S2052*(1)|p.S2053*(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GGAGCTGTATGAATAGCTCTG	0.438								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			2	Substitution - Nonsense(2)	p.S2052*(1)|p.S2053*(1)	large_intestine(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(6154-6156)tCa>tGa	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							122	120	121					8																	48772221		1889	4125	6014	SO:0001587	stop_gained	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48772221G>C		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.6155C>G	8.37:g.48772221G>C	ENSP00000313420:p.Ser2052*					PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Nonsense_Mutation_p.S2052*	p.S2052*	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			47	6211	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2053					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Nonsense_Mutation	SNP	ENST00000314191.2	37	c.6155C>G		.	.	.	.	.	.	.	.	.	.	G	48	13.995747	0.99774	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.2546	0.93941	0.0:0.0:1.0:0.0	.	.	.	.	X	2052	.	ENSP00000313420:S2052X	S	-	2	0	PRKDC	48934774	1.000000	0.71417	0.987000	0.45799	0.975000	0.68041	7.459000	0.80802	2.786000	0.95864	0.561000	0.74099	TCA		0.438	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		6	206	0	0	0	0.021553	0	6	206					C	48772221	G	C	48772221	4	2	8	1	0	0	0	0	0	1	0	0	12521	1294	45	4	6392	4	PRKDC	8	48772221	Nonsense_Mutation	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08	11051600	48772221	97591801	31	269											
RUNX1T1	862	broad.mit.edu	37	chr8	92972658	92972658	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtgatggtgcttctcccagtCtttgtgctggcaaaatgagc	12	9	2	2			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr8:92972658C>G	ENST00000523629.1	-	12	2081	c.1627G>C	c.(1627-1629)Gac>Cac	p.D543H	RUNX1T1_ENST00000422361.2_Missense_Mutation_p.D506H|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.D506H|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.D506H|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.D554H|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.D516H|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.D516H|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.D543H	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)	543					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)			TTCTCCCAGTCTTTGTGCTGG	0.567																																						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.(1627-1629)Gac>Cac		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							90	79	83					8																	92972658		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.chr8:92972658C>G	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.1627G>C	8.37:g.92972658C>G	ENSP00000428543:p.Asp543His					RUNX1T1_ENST00000422361.2_Missense_Mutation_p.D506H|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.D516H|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.D506H|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.D554H|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.D516H|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.D506H|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.D543H	p.D543H	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)		12	2081	-			543					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.1627G>C	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233862	0.79688	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.52057	0.68;0.74;0.68;0.76;0.76;0.76;0.71;0.74	5.86	5.86	0.93980	Zinc finger, MYND-type (3);	0.000000	0.85682	D	0.000000	T	0.60689	0.2288	L	0.28776	0.89	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.986;1.0;1.0;0.999	T	0.59968	-0.7354	10	0.52906	T	0.07	-24.1858	20.1802	0.98196	0.0:1.0:0.0:0.0	.	554;506;543;516	E7EPN4;Q7Z4J5;Q06455;Q06455-2	.;.;MTG8_HUMAN;.	H	543;516;543;506;506;506;554;516	ENSP00000428543:D543H;ENSP00000379520:D516H;ENSP00000265814:D543H;ENSP00000353504:D506H;ENSP00000390137:D506H;ENSP00000428742:D506H;ENSP00000402257:D554H;ENSP00000430728:D516H	ENSP00000265814:D543H	D	-	1	0	RUNX1T1	93041834	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.777000	0.95525	0.655000	0.94253	GAC		0.567	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		5	51	0	0	0	0.021553	0	5	51					G	92972658	C	G	92972658	3	3	8	1	0	0	0	0	1	0	0	0	13747	913	32	4	191	4	RUNX1T1	8	92972658	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	44200437	92972658	53391364	32	270											
ASAP1	50807	broad.mit.edu	37	chr8	131067027	131067027	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggaaagacccccttcctttCaggctgtccttcgatgtggc	10	13	1	1			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr8:131067027C>T	ENST00000518721.1	-	30	3567	c.3340G>A	c.(3340-3342)Gaa>Aaa	p.E1114K	ASAP1_ENST00000357668.1_Missense_Mutation_p.E1114K	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	1114	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CCCTTCCTTTCAGGCTGTCCT	0.527																																						ENST00000357668.1																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(3340-3342)Gaa>Aaa		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1							143	126	132					8																	131067027		2203	4300	6503	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131067027C>T	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2720	protein-coding gene	gene with protein product	"centaurin, beta 4"	605953	"development and differentiation enhancing factor 1"	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.3340G>A	8.37:g.131067027C>T	ENSP00000429900:p.Glu1114Lys					ASAP1_ENST00000518721.1_Missense_Mutation_p.E1114K	p.E1114K			Q9ULH1	ASAP1_HUMAN			29	3367	-			1114			SH3.		B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.3340G>A	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482441	0.63962	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721	T;T	0.29917	1.55;1.55	5.62	5.62	0.85841	Src homology-3 domain (4);	0.280072	0.39210	N	0.001426	T	0.24624	0.0597	N	0.20685	0.6	0.80722	D	1	B;B;B	0.23735	0.09;0.09;0.073	B;B;B	0.28385	0.089;0.089;0.053	T	0.05068	-1.0908	10	0.22109	T	0.4	.	18.6495	0.91425	0.0:1.0:0.0:0.0	.	1114;1114;1117	B2RNV3;Q9ULH1;Q9ULH1-2	.;ASAP1_HUMAN;.	K	1117;1114;1114	ENSP00000350297:E1114K;ENSP00000429900:E1114K	ENSP00000344591:E1117K	E	-	1	0	ASAP1	131136209	1.000000	0.71417	0.985000	0.45067	0.985000	0.73830	5.772000	0.68889	2.633000	0.89246	0.655000	0.94253	GAA		0.527	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		6	127	0	0	0	0.047766	0	6	127					T	131067027	C	T	131067027	3	4	8	1	0	0	0	0	1	0	0	0	1010	835	29	2	53	2	ASAP1	8	131067027	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	38094369	131067027	15296995	33	271											
FAM135B	51059	broad.mit.edu	37	chr8	139163752	139163752	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaatgaacggaatgggtcAcagtggggcacacagtgcct	16	8	1	1			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr8:139163752A>G	ENST00000395297.1	-	13	3136	c.2966T>C	c.(2965-2967)gTg>gCg	p.V989A		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	989										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGAATGGGTCACAGTGGGGCA	0.493										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(2965-2967)gTg>gCg		family with sequence similarity 135, member B							101	89	93					8																	139163752		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139163752A>G	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2966T>C	8.37:g.139163752A>G	ENSP00000378710:p.Val989Ala	HNSCC(54;0.14)					p.V989A	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	3136	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		989					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.2966T>C	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	A	13.54	2.266860	0.40095	.	.	ENSG00000147724	ENST00000395297	T	0.15017	2.46	5.45	-1.81	0.07882	.	1.315360	0.04859	N	0.443795	T	0.13114	0.0318	L	0.51422	1.61	0.09310	N	1	B;B;B	0.20052	0.041;0.041;0.001	B;B;B	0.16722	0.016;0.011;0.003	T	0.32295	-0.9912	10	0.15952	T	0.53	-4.9411	2.4819	0.04589	0.3313:0.3984:0.1525:0.1179	.	989;989;989	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	A	989	ENSP00000378710:V989A	ENSP00000276737:V989A	V	-	2	0	FAM135B	139232934	0.286000	0.24305	0.920000	0.36463	0.962000	0.63368	0.947000	0.29082	0.039000	0.15632	0.533000	0.62120	GTG		0.493	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		41	70	0	0	0	0.080422	0	41	70					G	139163752	A	G	139163752	3	3	8	1	0	0	0	0	1	0	0	0	5449	159	6	3	1286	3	FAM135B	8	139163752	Missense_Mutation	SNP	A	TCGA-BJ-A0ZB-01A-11D-A10S-08	8096725	139163752	7200270	34	272											
OR1N2	138882	broad.mit.edu	37	chr9	125315950	125315950	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgctgggtgtgtgctgggtgCtaaccaactgtcctgccctg	14	11	0	0			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr9:125315950C>G	ENST00000373688.2	+	1	560	c.502C>G	c.(502-504)Cta>Gta	p.L168V		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						GTGCTGGGTGCTAACCAACTG	0.532																																						ENST00000373688.2																			0				breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						c.(502-504)Cta>Gta		olfactory receptor, family 1, subfamily N, member 2							140	122	128					9																	125315950		2203	4300	6503	SO:0001583	missense	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125315950C>G		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"GPCR / Class A : Olfactory receptors"	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.502C>G	9.37:g.125315950C>G	ENSP00000362792:p.Leu168Val						p.L168V	NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN			1	560	+			168					A3KFM2|B2RNY4|Q6IF17|Q96RA3	Missense_Mutation	SNP	ENST00000373688.2	37	c.502C>G	CCDS35123.1	.	.	.	.	.	.	.	.	.	.	C	8.913	0.959276	0.18507	.	.	ENSG00000171501	ENST00000373688	T	0.39229	1.09	4.41	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	0.200788	0.24251	N	0.040175	T	0.30355	0.0762	N	0.25485	0.75	0.09310	N	1	B	0.28760	0.221	B	0.37550	0.253	T	0.20806	-1.0264	10	0.37606	T	0.19	.	6.0188	0.19618	0.0:0.6034:0.0:0.3965	.	168	Q8NGR9	OR1N2_HUMAN	V	168	ENSP00000362792:L168V	ENSP00000362792:L168V	L	+	1	2	OR1N2	124355771	0.001000	0.12720	0.857000	0.33713	0.975000	0.68041	-0.074000	0.11450	0.509000	0.28195	0.644000	0.83932	CTA		0.532	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			17	184	0	0	0	0.146539	0	17	184					G	125315950	C	G	125315950	3	3	8	1	0	0	0	0	1	0	0	0	10970	796	28	4	504	4	OR1N2	9	125315950	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08		125315950	15897481	35	273											
CHAT	1103	broad.mit.edu	37	chr10	50824648	50824648	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actcccagcagtgaggagtcTgtgagtgacttttggagccc	13	10	1	3	rs143723043		TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr10:50824648T>G	ENST00000337653.2	+	2	540	c.387T>G	c.(385-387)tcT>tcG	p.S129S	CHAT_ENST00000395559.2_Splice_Site_p.S11S|CHAT_ENST00000455728.2_Splice_Site_p.S11S|CHAT_ENST00000351556.3_Splice_Site_p.S11S|CHAT_ENST00000339797.1_Splice_Site_p.S11S|CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000395562.2_Splice_Site_p.S47S	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	129					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	GTGAGGAGTCTGTGAGTGACT	0.567																																						ENST00000395562.2																			0				central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.e3+1		choline O-acetyltransferase	Choline(DB00122)						113	86	95					10																	50824648		2203	4300	6503	SO:0001630	splice_region_variant	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50824648T>G	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"choline acetyltransferase"			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.387+1T>G	10.37:g.50824648T>G						CHAT_ENST00000395559.2_Splice_Site_p.S11_splice|CHAT_ENST00000339797.1_Splice_Site_p.S11_splice|CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000337653.2_Splice_Site_p.S129_splice|CHAT_ENST00000455728.2_Splice_Site_p.S11_splice|CHAT_ENST00000351556.3_Splice_Site_p.S11_splice	p.S47_splice	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	3	610	+		all_neural(218;0.107)	129		D -> E (in dbSNP:rs3810948).			A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Splice_Site	SNP	ENST00000337653.2	37	c.141_splice	CCDS7232.1																																																																																				0.567	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549	Silent	17	14	0	0	0	0.0333	0	17	14					G	50824648	T	G	50824648	5	3	8	1	0	0	0	0	0	0	1	0	3313	1594	55	5	437	5	CHAT	10	50824648	Splice_Site	SNP	T	TCGA-BJ-A0ZB-01A-11D-A10S-08		50824648	84710099	36	274											
MUC5B	727897	broad.mit.edu	37	chr11	1264048	1264048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacacccacagctaccagcGttacacccatcccctcttcc	3	22	1	0	rs189444561		TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr11:1264048G>A	ENST00000529681.1	+	31	5996	c.5938G>A	c.(5938-5940)Gtt>Att	p.V1980I	MUC5B_ENST00000447027.1_Missense_Mutation_p.V1983I|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1980	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			VTP -> FTA (in Ref. 4; CAA96577). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGCTACCAGCGTTACACCCAT	0.632																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(5947-5949)Gtt>Att		mucin 5B, oligomeric mucus/gel-forming							226	284	264					11																	1264048		2182	4266	6448	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1264048G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.5938G>A	11.37:g.1264048G>A	ENSP00000436812:p.Val1980Ile					MUC5B_ENST00000529681.1_Missense_Mutation_p.V1980I|RP11-532E4.2_ENST00000532061.2_RNA	p.V1983I			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	6005	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1980			11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.5947G>A	CCDS44515.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	4.904	0.168075	0.09339	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.16073	2.37;2.56	1.36	0.248	0.15526	.	.	.	.	.	T	0.07728	0.0194	N	0.14661	0.345	0.09310	N	1	B;B	0.27498	0.18;0.106	B;B	0.15052	0.012;0.008	T	0.30880	-0.9963	9	0.87932	D	0	.	1.8708	0.03208	0.1534:0.1853:0.4662:0.1952	.	2673;1983	A7Y9J9;E9PBJ0	.;.	I	1980;1983;1981;2050	ENSP00000436812:V1980I;ENSP00000415793:V1983I	ENSP00000343037:V1981I	V	+	1	0	MUC5B	1220624	0.009000	0.17119	0.000000	0.03702	0.007000	0.05969	1.280000	0.33202	-0.912000	0.03837	-1.142000	0.01873	GTT		0.632	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		79	117	0	0	0	0.139131	0	79	117					A	1264048	G	A	1264048	3	1	8	1	0	0	0	0	1	0	0	0	9979	1145	40	1	6069	1	MUC5B	11	1264048	Missense_Mutation	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08		1264048	133742468	37	275											
OR51V1	283111	broad.mit.edu	37	chr11	5221748	5221748	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ataggctggtgcaggcttggCtcagtccatatcacatggag	13	9	2	0			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr11:5221748C>G	ENST00000321255.1	-	1	182	c.183G>C	c.(181-183)gaG>gaC	p.E61D		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	61					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)			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGGCTTGGCTCAGTCCATA	0.537																																						ENST00000321255.1																			0				endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39						c.(181-183)gaG>gaC		olfactory receptor, family 51, subfamily V, member 1							122	104	110					11																	5221748		2201	4298	6499	SO:0001583	missense	283111				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5221748C>G	BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"GPCR / Class A : Olfactory receptors"	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.183G>C	11.37:g.5221748C>G	ENSP00000321729:p.Glu61Asp						p.E61D	NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	182	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	61						Missense_Mutation	SNP	ENST00000321255.1	37	c.183G>C	CCDS31375.1	.	.	.	.	.	.	.	.	.	.	C	6.083	0.383542	0.11524	.	.	ENSG00000176742	ENST00000321255	T	0.02140	4.43	5.48	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44097	D	0.000484	T	0.03739	0.0106	N	0.25380	0.74	0.09310	N	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.48779	-0.9005	10	0.19147	T	0.46	.	1.7292	0.02928	0.1675:0.4888:0.1612:0.1825	.	61	Q9H2C8	O51V1_HUMAN	D	61	ENSP00000321729:E61D	ENSP00000321729:E61D	E	-	3	2	OR51V1	5178324	0.000000	0.05858	0.938000	0.37757	0.278000	0.26855	-0.414000	0.07114	1.551000	0.49450	0.650000	0.86243	GAG		0.537	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760		13	72	0	0	0	0.146539	0	13	72					G	5221748	C	G	5221748	3	3	8	1	0	0	0	0	1	0	0	0	11107	796	28	4	785	4	OR51V1	11	5221748	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	3957700	5221748	129784768	38	276											
EIF4G2	1982	broad.mit.edu	37	chr11	10822345	10822345	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttggcaggcttttcctggAtaagcggtggattagttttg	13	6	1	0			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr11:10822345A>G	ENST00000526148.1	-	16	2087	c.1577T>C	c.(1576-1578)aTc>aCc	p.I526T	EIF4G2_ENST00000339995.5_Missense_Mutation_p.I526T|EIF4G2_ENST00000396525.2_Missense_Mutation_p.I488T|EIF4G2_ENST00000525681.1_Missense_Mutation_p.I526T|RP11-685M7.5_ENST00000532365.1_RNA|SNORD97_ENST00000459187.1_RNA	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2											NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CTTTTCCTGGATAAGCGGTGG	0.383																																						ENST00000526148.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43						c.(1576-1578)aTc>aCc		eukaryotic translation initiation factor 4 gamma, 2							115	112	113					11																	10822345		2201	4294	6495	SO:0001583	missense	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10822345A>G	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.1577T>C	11.37:g.10822345A>G	ENSP00000433664:p.Ile526Thr					RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000525681.1_Missense_Mutation_p.I526T|EIF4G2_ENST00000339995.5_Missense_Mutation_p.I526T|EIF4G2_ENST00000396525.2_Missense_Mutation_p.I488T	p.I526T	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	16	2087	-			526						Missense_Mutation	SNP	ENST00000526148.1	37	c.1577T>C	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	A	19.30	3.801380	0.70567	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000531180	T;T;T;T;T	0.43688	2.29;2.29;2.29;2.28;0.94	6.06	6.06	0.98353	.	0.044625	0.85682	D	0.000000	T	0.43567	0.1253	L	0.49350	1.555	0.47949	D	0.999558	D;D	0.59357	0.985;0.985	P;P	0.47206	0.541;0.541	T	0.42949	-0.9421	9	0.13108	T	0.6	-6.1952	16.6245	0.84952	1.0:0.0:0.0:0.0	.	526;599	P78344;B4DZF2	IF4G2_HUMAN;.	T	526;526;526;488;599;31	ENSP00000433664:I526T;ENSP00000433371:I526T;ENSP00000340281:I526T;ENSP00000379778:I488T;ENSP00000433561:I31T	ENSP00000340281:I526T	I	-	2	0	EIF4G2	10778921	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.890000	0.92477	2.323000	0.78572	0.528000	0.53228	ATC		0.383	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		48	75	0	0	0	0.139131	0	48	75					G	10822345	A	G	10822345	3	3	8	1	0	0	0	0	1	0	0	0	5037	333	12	3	1174	3	EIF4G2	11	10822345	Missense_Mutation	SNP	A	TCGA-BJ-A0ZB-01A-11D-A10S-08	5600597	10822345	124184171	39	277											
PATL1	219988	broad.mit.edu	37	chr11	59421541	59421541	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cggtctaaacattggggcctGagatctaagaaaaacggaaa	11	7	2	2			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr11:59421541G>C	ENST00000300146.9	-	9	1120	c.1036C>G	c.(1036-1038)Cag>Gag	p.Q346E		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	346	Involved in RNA-binding.|Involved in nuclear foci localization.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|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)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						ATTGGGGCCTGAGATCTAAGA	0.428																																						ENST00000300146.9																			0				central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						c.(1036-1038)Cag>Gag		protein associated with topoisomerase II homolog 1 (yeast)							162	160	161					11																	59421541		1975	4155	6130	SO:0001583	missense	219988				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding	g.chr11:59421541G>C	AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.1036C>G	11.37:g.59421541G>C	ENSP00000300146:p.Gln346Glu						p.Q346E	NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN			9	1120	-			346			Region N; interaction with decapping machinery.		B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Missense_Mutation	SNP	ENST00000300146.9	37	c.1036C>G	CCDS44613.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.341552	0.24339	.	.	ENSG00000166889	ENST00000300146;ENST00000428532	T	0.46451	0.87	5.75	5.75	0.90469	.	0.129015	0.51477	D	0.000083	T	0.29945	0.0749	L	0.29908	0.895	0.40485	D	0.980483	B;B	0.19583	0.012;0.037	B;B	0.22386	0.015;0.039	T	0.11060	-1.0603	10	0.10636	T	0.68	-11.9401	12.86	0.57908	0.0753:0.0:0.9247:0.0	.	316;346	Q86TB9-4;Q86TB9	.;PATL1_HUMAN	E	346;316	ENSP00000300146:Q346E	ENSP00000300146:Q346E	Q	-	1	0	PATL1	59178117	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.718000	0.68455	2.716000	0.92895	0.655000	0.94253	CAG		0.428	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394559.1	NM_152716		3	116	0	0	0	0.115264	0	3	116					C	59421541	G	C	59421541	3	2	8	1	0	0	0	0	1	0	0	0	11475	1299	45	4	1320	4	PATL1	11	59421541	Missense_Mutation	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08	48599196	59421541	75584975	40	278											
TMEM109	79073	broad.mit.edu	37	chr11	60689584	60689584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgccaggtggaggagctgCgctggcgccagaggcgagcg	19	11	0	1			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr11:60689584C>T	ENST00000227525.3	+	4	1082	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	RP11-881M11.4_ENST00000543907.1_RNA|TMEM132A_ENST00000005286.4_5'Flank|TMEM109_ENST00000536171.1_Missense_Mutation_p.R227C|TMEM132A_ENST00000453848.2_5'Flank	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	227					cellular response to gamma radiation (GO:0071480)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell death (GO:0060548)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						GGAGGAGCTGCGCTGGCGCCA	0.687																																						ENST00000227525.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						c.(679-681)Cgc>Tgc		transmembrane protein 109							13	15	14					11																	60689584		2201	4296	6497	SO:0001583	missense	79073					integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane		g.chr11:60689584C>T		CCDS7996.1	11q12.2	2005-12-22				ENSG00000110108			28771	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_024092		Approved	MGC5508	uc001nqg.3	Q9BVC6		ENST00000227525.3:c.679C>T	11.37:g.60689584C>T	ENSP00000227525:p.Arg227Cys					RP11-881M11.4_ENST00000543907.1_RNA|TMEM109_ENST00000536171.1_Missense_Mutation_p.R227C	p.R227C	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN			4	1082	+			227						Missense_Mutation	SNP	ENST00000227525.3	37	c.679C>T	CCDS7996.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110550	0.77210	.	.	ENSG00000110108	ENST00000227525;ENST00000536171	.	.	.	5.05	4.13	0.48395	.	0.000000	0.64402	D	0.000003	T	0.67581	0.2908	L	0.56769	1.78	0.46113	D	0.998876	D	0.89917	1.0	P	0.59288	0.855	T	0.71031	-0.4710	9	0.87932	D	0	-5.8291	13.0564	0.58982	0.1605:0.8395:0.0:0.0	.	227	Q9BVC6	TM109_HUMAN	C	227	.	ENSP00000227525:R227C	R	+	1	0	TMEM109	60446160	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.146000	0.42216	1.095000	0.41419	0.650000	0.86243	CGC		0.687	TMEM109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396343.1	NM_024092		5	39	0	0	0	0.014758	0	5	39					T	60689584	C	T	60689584	3	4	8	1	0	0	0	0	1	0	0	0	16022	768	27	1	689	1	TMEM109	11	60689584	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	1268043	60689584	74316932	41	279											
ASRGL1	80150	broad.mit.edu	37	chr11	62123836	62123836	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacaaatggtgaggttgaaaTggatgctagtatcatggatg	13	4	1	2			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr11:62123836T>C	ENST00000415229.2	+	3	445	c.230T>C	c.(229-231)aTg>aCg	p.M77T	ASRGL1_ENST00000535727.1_Intron|ASRGL1_ENST00000301776.5_Missense_Mutation_p.M77T	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	77					asparagine catabolic process via L-aspartate (GO:0033345)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	asparaginase activity (GO:0004067)|beta-aspartyl-peptidase activity (GO:0008798)			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	GAGGTTGAAATGGATGCTAGT	0.453																																						ENST00000415229.2																			0				endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7						c.(229-231)aTg>aCg		asparaginase like 1	L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)						208	192	198					11																	62123836		2202	4299	6501	SO:0001583	missense	80150				asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	g.chr11:62123836T>C		CCDS8019.1	11q12.3	2008-07-18			ENSG00000162174	ENSG00000162174			16448	protein-coding gene	gene with protein product	"asparaginase-like 1 protein"	609212					Standard	NM_025080		Approved	FLJ22316, ALP1, ALP	uc001ntf.4	Q7L266	OTTHUMG00000167513	ENST00000415229.2:c.230T>C	11.37:g.62123836T>C	ENSP00000400057:p.Met77Thr					ASRGL1_ENST00000301776.5_Missense_Mutation_p.M77T|ASRGL1_ENST00000535727.1_Intron	p.M77T	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN			3	445	+			77					B2R7Q0|Q567Q4|Q6P1P0|Q8NI34|Q9H6F7	Missense_Mutation	SNP	ENST00000415229.2	37	c.230T>C	CCDS8019.1	.	.	.	.	.	.	.	.	.	.	t	22.4	4.289149	0.80914	.	.	ENSG00000162174	ENST00000415229;ENST00000301776	D;D	0.89343	-2.5;-2.5	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.94228	0.8147	M	0.84585	2.705	0.80722	D	1	B	0.32467	0.372	P	0.51742	0.678	D	0.94314	0.7548	10	0.87932	D	0	-37.1564	14.108	0.65104	0.0:0.0:0.0:1.0	.	77	Q7L266	ASGL1_HUMAN	T	77	ENSP00000400057:M77T;ENSP00000301776:M77T	ENSP00000301776:M77T	M	+	2	0	ASRGL1	61880412	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.330000	0.72925	2.210000	0.71456	0.528000	0.53228	ATG		0.453	ASRGL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394865.1	NM_001083926		64	95	0	0	0	0.139131	0	64	95					C	62123836	T	C	62123836	3	2	8	1	0	0	0	0	1	0	0	0	1060	1464	51	3	236	3	ASRGL1	11	62123836	Missense_Mutation	SNP	T	TCGA-BJ-A0ZB-01A-11D-A10S-08	1434252	62123836	72882680	42	280											
A2M	2	broad.mit.edu	37	chr12	9264798	9264798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcatccatggagacaacaCgaaatttcactgaaacagaa	6	9	2	3	rs201769751		TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr12:9264798C>T	ENST00000318602.7	-	4	747	c.440G>A	c.(439-441)cGt>cAt	p.R147H		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	147					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GGAGACAACACGAAATTTCAC	0.393													C|||	3	0.000599042	0.0023	0	5008	,	,		-128	0		0	False		,,,				2504	0					ENST00000318602.7																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77						c.(439-441)cGt>cAt		alpha-2-macroglobulin	Bacitracin(DB00626)|Becaplermin(DB00102)	C	HIS/ARG	3,3657		0,3,1827	67	66	66		440	5.4	1.0	12		66	0,8148		0,0,4074	yes	missense	A2M	NM_000014.4	29	0,3,5901	TT,TC,CC		0.0,0.082,0.0254	probably-damaging	147/1475	9264798	3,11805	1830	4074	5904	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9264798C>T	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.440G>A	12.37:g.9264798C>T	ENSP00000323929:p.Arg147His						p.R147H	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN			4	747	-			147					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.440G>A	CCDS44827.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	23.1	4.371479	0.82573	8.2E-4	0.0	ENSG00000175899	ENST00000318602;ENST00000540099;ENST00000404455	T;T	0.77229	-1.08;-1.08	5.43	5.43	0.79202	Alpha-2-macroglobulin, N-terminal (1);	0.000000	0.64402	D	0.000001	D	0.91811	0.7409	H	0.96996	3.92	0.46078	D	0.998853	D	0.89917	1.0	D	0.81914	0.995	D	0.94107	0.7367	10	0.87932	D	0	.	14.7525	0.69536	0.0:1.0:0.0:0.0	.	147	P01023	A2MG_HUMAN	H	147;162;147	ENSP00000323929:R147H;ENSP00000385710:R147H	ENSP00000323929:R147H	R	-	2	0	A2M	9156065	0.989000	0.36119	1.000000	0.80357	0.994000	0.84299	3.028000	0.49705	2.540000	0.85666	0.650000	0.86243	CGT		0.393	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		13	35	0	0	0	0.132662	0	13	35					T	9264798	C	T	9264798	3	4	8	1	0	0	0	0	1	0	0	0	4	536	19	1	4116	1	A2M	12	9264798	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08		9264798	124587097	43	281											
PPHLN1	51535	broad.mit.edu	37	chr12	42836501	42836501	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaacactgaaatggatcaCgacggaacccccgaaaacga	10	11	1	1			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr12:42836501C>T	ENST00000395568.2	+	11	1167	c.1083C>T	c.(1081-1083)caC>caT	p.H361H	PPHLN1_ENST00000337898.6_Silent_p.H306H|PPHLN1_ENST00000432191.2_Silent_p.H306H|PPHLN1_ENST00000256678.8_Silent_p.H241H|PPHLN1_ENST00000317560.9_Intron	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	361					keratinization (GO:0031424)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		aaatggatcacgacggaaccc	0.552																																						ENST00000432191.2																			0				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(916-918)caC>caT		periphilin 1							132	130	131					12																	42836501		2203	4300	6503	SO:0001819	synonymous_variant	51535				keratinization	cytoplasm|nucleus		g.chr12:42836501C>T	AY157850	CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1	12q12	2006-10-24				ENSG00000134283			19369	protein-coding gene	gene with protein product		608150					Standard	NM_016488		Approved		uc001rng.1	Q8NEY8		ENST00000395568.2:c.1083C>T	12.37:g.42836501C>T						PPHLN1_ENST00000395568.2_Silent_p.H361H|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000337898.6_Silent_p.H306H|PPHLN1_ENST00000256678.8_Silent_p.H241H	p.H306H	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN		GBM - Glioblastoma multiforme(48;0.0875)	10	990	+	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)	361					E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	Silent	SNP	ENST00000395568.2	37	c.918C>T	CCDS31777.1																																																																																				0.552	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404047.1	NM_201515		22	279	0	0	0	0.083992	0	22	279					T	42836501	C	T	42836501	2	4	8	1	0	0	0	0	0	0	0	1	12315	535	19	1		1	PPHLN1	12	42836501	Silent	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	33571703	42836501	91015394	44	282											
ESPL1	9700	broad.mit.edu	37	chr12	53680377	53680377	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctcagctgctgtactacccAactttttgcaagctcctggg	8	14	1	0			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr12:53680377A>T	ENST00000257934.4	+	18	3948	c.3857A>T	c.(3856-3858)cAa>cTa	p.Q1286L	ESPL1_ENST00000552462.1_Missense_Mutation_p.Q1286L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1286					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TGTACTACCCAACTTTTTGCA	0.552																																					Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(3856-3858)cAa>cTa		extra spindle pole bodies homolog 1 (S. cerevisiae)							55	59	58					12																	53680377		2203	4300	6503	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53680377A>T	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.3857A>T	12.37:g.53680377A>T	ENSP00000257934:p.Gln1286Leu					ESPL1_ENST00000552462.1_Missense_Mutation_p.Q1286L	p.Q1286L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN			18	3948	+			1286						Missense_Mutation	SNP	ENST00000257934.4	37	c.3857A>T	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	A	8.750	0.920966	0.17982	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.12879	2.64;2.64	4.96	3.81	0.43845	.	0.311935	0.34777	N	0.003693	T	0.12987	0.0315	L	0.57536	1.79	0.19300	N	0.999971	P	0.40000	0.698	B	0.35353	0.201	T	0.18461	-1.0336	10	0.72032	D	0.01	.	7.7043	0.28640	0.9049:0.0:0.0951:0.0	.	1286	Q14674	ESPL1_HUMAN	L	1286;961;1286	ENSP00000257934:Q1286L;ENSP00000449831:Q1286L	ENSP00000257934:Q1286L	Q	+	2	0	ESPL1	51966644	0.175000	0.23083	0.513000	0.27749	0.022000	0.10575	1.298000	0.33412	1.021000	0.39600	0.459000	0.35465	CAA		0.552	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		7	124	0	0	0	0.02938	0	7	124					T	53680377	A	T	53680377	3	4	8	1	0	0	0	0	1	0	0	0	5253	130	5	5	3923	5	ESPL1	12	53680377	Missense_Mutation	SNP	A	TCGA-BJ-A0ZB-01A-11D-A10S-08	10843876	53680377	80171518	45	283											
CCT2	10576	broad.mit.edu	37	chr12	69985902	69985902	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aattgaaaatgctaaaattcTtattgcaaatactggtatgg	7	4	1	1			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr12:69985902T>G	ENST00000299300.6	+	8	901	c.713T>G	c.(712-714)cTt>cGt	p.L238R	CCT2_ENST00000543146.2_Missense_Mutation_p.L191R|CCT2_ENST00000544368.2_Missense_Mutation_p.L238R	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	238					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GCTAAAATTCTTATTGCAAAT	0.299																																						ENST00000543146.2																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24						c.(571-573)cTt>cGt		chaperonin containing TCP1, subunit 2 (beta)							66	75	72					12																	69985902		2202	4299	6501	SO:0001583	missense	10576				'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding	g.chr12:69985902T>G	AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"Heat Shock Proteins / Chaperonins"	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.713T>G	12.37:g.69985902T>G	ENSP00000299300:p.Leu238Arg					CCT2_ENST00000544368.2_Missense_Mutation_p.L238R|CCT2_ENST00000299300.6_Missense_Mutation_p.L238R	p.L191R	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		8	1054	+	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		238					A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Missense_Mutation	SNP	ENST00000299300.6	37	c.572T>G	CCDS8991.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.467887	0.84533	.	.	ENSG00000166226	ENST00000299300;ENST00000544368;ENST00000543146	D;D;D	0.84146	-1.81;-1.81;-1.81	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.95294	0.8473	H	0.97564	4.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96926	0.9677	9	.	.	.	-38.207	15.7577	0.78046	0.0:0.0:0.0:1.0	.	238;238	F5GWF6;P78371	.;TCPB_HUMAN	R	238;238;191	ENSP00000299300:L238R;ENSP00000441847:L238R;ENSP00000445471:L191R	.	L	+	2	0	CCT2	68272169	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.094000	0.76944	2.191000	0.70037	0.533000	0.62120	CTT		0.299	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403818.1	NM_006431		38	56	0	0	0	0.11126	0	38	56					G	69985902	T	G	69985902	3	3	8	1	0	0	0	0	1	0	0	0	2953	1609	56	5	743	5	CCT2	12	69985902	Missense_Mutation	SNP	T	TCGA-BJ-A0ZB-01A-11D-A10S-08	16305525	69985902	63865993	46	284											
ACAD10	80724	broad.mit.edu	37	chr12	112185090	112185101	+	Splice_Site	DEL	CCCACTCAGGTT	CCCACTCAGGTT	-													tctctgactggaatatgctcCccactcaggttgcctcttca					rs377685712		TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr12:112185090_112185101delCCCACTCAGGTT	ENST00000313698.4	+	16	2549_2552	c.2394_2397delCCCACTCAGGTT	c.(2392-2397)caccca>ca	p.HP798del	ACAD10_ENST00000455480.2_Splice_Site_p.HP829del|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Splice_Site_p.HP400del	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	798						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GAATATGCTCCCCACTCAGGTTGCCTCTTCAG	0.561																																						ENST00000455480.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						c.e17-1		acyl-CoA dehydrogenase family, member 10																																				SO:0001630	splice_region_variant	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112185090_112185101delCCCACTCAGGTT	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"acyl-Coenzyme A dehydrogenase family, member 10"			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.2395-1CCCACTCAGGTT>-	12.37:g.112185090_112185101delCCCACTCAGGTT						ACAD10_ENST00000313698.4_Splice_Site_p.798_splice|ACAD10_ENST00000392636.2_Splice_Site_p.400_splice|ACAD10_ENST00000413681.3_3'UTR	p.829_splice	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN			17	2664_2667	+			798					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Splice_Site	DEL	ENST00000313698.4	37	c.2487_splice	CCDS31903.1																																																																																				0.561	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247	In_Frame_Del	34	56						34	56	---	---	---	---	-	112185101	CCCACTCAGGTT	-	112185090	8	5	8	1	0	1	0	1	0	0	1	0	108	638	22	0		0	ACAD10	12	112185090	Splice_Site	DEL	CCCACTCAGGTT	TCGA-BJ-A0ZB-01A-11D-A10S-08	42199188	112185090	21666805	47	285											
CIT	11113	broad.mit.edu	37	chr12	120241044	120241044	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatccccagtgccttgctgtAcgaaaaccccacaaacggca	7	15	0	0			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr12:120241044A>G	ENST00000261833.7	-	10	1313	c.1261T>C	c.(1261-1263)Tac>Cac	p.Y421H	CIT_ENST00000392521.2_Missense_Mutation_p.Y421H	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	421	AGC-kinase C-terminal.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GCCTTGCTGTACGAAAACCCC	0.488																																						ENST00000392521.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(1261-1263)Tac>Cac		citron (rho-interacting, serine/threonine kinase 21)							90	91	90					12																	120241044		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120241044A>G	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.1261T>C	12.37:g.120241044A>G	ENSP00000261833:p.Tyr421His					CIT_ENST00000261833.7_Missense_Mutation_p.Y421H	p.Y421H	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	10	1316	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	421			AGC-kinase C-terminal.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.1261T>C	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	A	11.79	1.743478	0.30865	.	.	ENSG00000122966	ENST00000392521;ENST00000261833	T;T	0.73897	-0.79;-0.79	5.43	5.43	0.79202	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.069169	0.56097	D	0.000022	T	0.69895	0.3162	L	0.52266	1.64	0.43499	D	0.995746	B;B	0.22983	0.013;0.078	B;B	0.23018	0.02;0.043	T	0.66284	-0.5962	10	0.36615	T	0.2	.	15.5086	0.75760	1.0:0.0:0.0:0.0	.	421;421	Q2M5E1;O14578	.;CTRO_HUMAN	H	421	ENSP00000376306:Y421H;ENSP00000261833:Y421H	ENSP00000261833:Y421H	Y	-	1	0	CIT	118725427	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	8.475000	0.90417	2.061000	0.61500	0.533000	0.62120	TAC		0.488	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		3	101	0	0	0	0.009096	0	3	101					G	120241044	A	G	120241044	3	3	8	1	0	0	0	0	1	0	0	0	3438	391	14	3	4974	3	CIT	12	120241044	Missense_Mutation	SNP	A	TCGA-BJ-A0ZB-01A-11D-A10S-08	8055954	120241044	13610851	48	286											
LCTL	197021	broad.mit.edu	37	chr15	66842425	66842425	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gagcaagtttccaaagctttGaggtaccaactttccaccta	7	11	0	1			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr15:66842425G>C	ENST00000341509.5	-	12	1673	c.1542C>G	c.(1540-1542)ctC>ctG	p.L514L	LCTL_ENST00000537670.1_Silent_p.L341L	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	514					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCAAAGCTTTGAGGTACCAAC	0.308																																						ENST00000341509.5																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1540-1542)ctC>ctG		lactase-like							68	66	67					15																	66842425		2201	4298	6499	SO:0001819	synonymous_variant	197021				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr15:66842425G>C	AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"klotho gamma", "KL lactase phlorizin hydrolase"					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.1542C>G	15.37:g.66842425G>C						LCTL_ENST00000537670.1_Silent_p.L341L	p.L514L	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN			12	1673	-			514					B3KQY0	Silent	SNP	ENST00000341509.5	37	c.1542C>G	CCDS10220.1																																																																																				0.308	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256921.2	NM_207338		3	61	0	0	0	0.009096	0	3	61					C	66842425	G	C	66842425	2	2	8	1	0	0	0	0	0	0	0	1	8694	1277	45	4		4	LCTL	15	66842425	Silent	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08		66842425	35688967	49	287											
BNC1	646	broad.mit.edu	37	chr15	83932102	83932102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgtctgctcagtctccCtctctgaattgtgtgtggcc	11	12	4	1			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr15:83932102C>T	ENST00000345382.2	-	4	1986	c.1901G>A	c.(1900-1902)aGg>aAg	p.R634K	BNC1_ENST00000569704.1_Missense_Mutation_p.R627K|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	634					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CTCAGTCTCCCTCTCTGAATT	0.552																																						ENST00000345382.2																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						c.(1900-1902)aGg>aAg		basonuclin 1							135	134	134					15																	83932102		2203	4300	6503	SO:0001583	missense	646				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:83932102C>T	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"Zinc fingers, C2H2-type"	1081	protein-coding gene	gene with protein product		601930	"basonuclin"	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.1901G>A	15.37:g.83932102C>T	ENSP00000307041:p.Arg634Lys					BNC1_ENST00000569704.1_Missense_Mutation_p.R627K|RP11-382A20.4_ENST00000565495.1_RNA	p.R634K	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN			4	1986	-			634					Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	c.1901G>A	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	C	9.228	1.035135	0.19590	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.39787	1.06	4.79	2.68	0.31781	.	0.400124	0.29253	N	0.012689	T	0.26846	0.0657	L	0.36672	1.1	0.25825	N	0.984235	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.11891	-1.0569	10	0.18710	T	0.47	-10.6543	6.2829	0.21017	0.0:0.5882:0.0:0.4118	.	627;634	F5GY04;Q01954	.;BNC1_HUMAN	K	634;627	ENSP00000307041:R634K	ENSP00000307041:R634K	R	-	2	0	BNC1	81723106	1.000000	0.71417	0.977000	0.42913	0.454000	0.32378	1.536000	0.36072	1.126000	0.42016	0.655000	0.94253	AGG		0.552	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		5	175	0	0	0	0.014758	0	5	175					T	83932102	C	T	83932102	3	4	8	1	0	0	0	0	1	0	0	0	1474	681	24	2	1091	2	BNC1	15	83932102	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	17089677	83932102	18599290	50	288											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84582013	84582013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacggccctgcctcctggaaGcatgtgatgagagcccggcc	13	14	0	2			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr15:84582013G>A	ENST00000286744.5	+	16	2094	c.1870G>A	c.(1870-1872)Gca>Aca	p.A624T	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.A624T	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	624	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCTCCTGGAAGCATGTGATGA	0.617																																						ENST00000286744.5																			0				NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(1870-1872)Gca>Aca		ADAMTS-like 3							58	51	53					15																	84582013		2203	4300	6503	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84582013G>A	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.1870G>A	15.37:g.84582013G>A	ENSP00000286744:p.Ala624Thr					ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.A624T	p.A624T	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		16	2094	+			624			TSP type-1 4.		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.1870G>A	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.364191	0.41902	.	.	ENSG00000156218	ENST00000286744	T	0.61274	0.12	4.9	1.8	0.24995	.	0.365165	0.26010	N	0.026882	T	0.51363	0.1670	L	0.41961	1.31	0.28396	N	0.918866	B;P	0.40000	0.426;0.698	B;B	0.40825	0.287;0.341	T	0.53767	-0.8392	10	0.72032	D	0.01	.	14.1213	0.65189	0.0:0.6247:0.2727:0.1026	.	624;624	P82987-2;P82987	.;ATL3_HUMAN	T	624	ENSP00000286744:A624T	ENSP00000286744:A624T	A	+	1	0	ADAMTSL3	82373017	0.021000	0.18746	0.008000	0.14137	0.284000	0.27059	1.005000	0.29834	0.447000	0.26695	0.563000	0.77884	GCA		0.617	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		25	32	0	0	0	0.076483	0	25	32					A	84582013	G	A	84582013	3	1	8	1	0	0	0	0	1	0	0	0	276	971	34	2	1928	2	ADAMTSL3	15	84582013	Missense_Mutation	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08	649911	84582013	17949379	51	289											
ITGAL	3683	broad.mit.edu	37	chr16	30521697	30521697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagccccatagccagataCctgtgagctgcgaggagctt	11	14	0	2			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr16:30521697C>T	ENST00000356798.6	+	22	2704	c.2524C>T	c.(2524-2526)Cct>Tct	p.P842S	ITGAL_ENST00000358164.5_Missense_Mutation_p.P758S|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	842					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	TAGCCAGATACCTGTGAGCTG	0.557																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(2524-2526)Cct>Tct		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						140	129	133					16																	30521697		2197	4300	6497	SO:0001583	missense	0				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30521697C>T		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"CD molecules", "Integrins"	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.2524C>T	16.37:g.30521697C>T	ENSP00000349252:p.Pro842Ser					ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.P758S	p.P842S	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			22	2704	+			842					O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	c.2524C>T	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	c	11.92	1.782555	0.31502	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	T;T	0.41400	1.0;1.0	4.45	4.45	0.53987	Integrin alpha-2 (1);	0.000000	0.41823	D	0.000816	T	0.62708	0.2450	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	0.975;1.0	P;D	0.78314	0.882;0.991	T	0.62020	-0.6942	10	0.34782	T	0.22	.	13.3782	0.60752	0.0:1.0:0.0:0.0	.	758;842	Q96HB1;P20701	.;ITAL_HUMAN	S	842;758	ENSP00000349252:P842S;ENSP00000350886:P758S	ENSP00000349252:P842S	P	+	1	0	ITGAL	30429198	0.984000	0.35163	0.944000	0.38274	0.168000	0.22595	3.442000	0.52900	2.443000	0.82685	0.187000	0.17357	CCT		0.557	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			78	134	0	0	0	0.139131	0	78	134					T	30521697	C	T	30521697	3	4	8	1	0	0	0	0	1	0	0	0	7886	507	18	2	2610	2	ITGAL	16	30521697	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08		30521697	59833056	52	290											
ITGAD	3681	broad.mit.edu	37	chr16	31435803	31435803	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atcagatggagatggtgctaGaagaagacgaggtctacaat	13	5	2	5			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr16:31435803G>C	ENST00000389202.2	+	29	3326	c.3277G>C	c.(3277-3279)Gaa>Caa	p.E1093Q		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	1093					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GATGGTGCTAGAAGAAGACGA	0.542																																						ENST00000389202.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(3277-3279)Gaa>Caa		integrin, alpha D							116	95	102					16																	31435803		2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31435803G>C	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"CD molecules", "Integrins"	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.3277G>C	16.37:g.31435803G>C	ENSP00000373854:p.Glu1093Gln						p.E1093Q	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN			29	3326	+			1093					Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.3277G>C	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.411474	0.62399	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.58652	0.32	5.15	5.15	0.70609	.	.	.	.	.	T	0.78110	0.4232	M	0.84846	2.72	0.20489	N	0.999891	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	T	0.70923	-0.4740	9	0.87932	D	0	.	14.1208	0.65186	0.0:0.0:1.0:0.0	.	1109;1093	Q59H14;Q13349	.;ITAD_HUMAN	Q	1109;1093	ENSP00000373854:E1093Q	ENSP00000373854:E1093Q	E	+	1	0	ITGAD	31343304	0.998000	0.40836	0.070000	0.20053	0.017000	0.09413	1.942000	0.40243	2.392000	0.81423	0.563000	0.77884	GAA		0.542	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		6	105	0	0	0	0.021553	0	6	105					C	31435803	G	C	31435803	3	2	8	1	0	0	0	0	1	0	0	0	7884	943	33	4	3391	4	ITGAD	16	31435803	Missense_Mutation	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08	914106	31435803	58918950	53	291											
ADAMTS18	170692	broad.mit.edu	37	chr16	77389861	77389861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaatttcttgagatactggCggctgcaggaagaccatgaa	13	7	1	3			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr16:77389861C>T	ENST00000282849.5	-	9	1854	c.1436G>A	c.(1435-1437)cGc>cAc	p.R479H		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	479	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R479H(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GAGATACTGGCGGCTGCAGGA	0.488																																						ENST00000282849.5																			1	Substitution - Missense(1)	p.R479H(1)	ovary(1)	NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(1435-1437)cGc>cAc		ADAM metallopeptidase with thrombospondin type 1 motif, 18							106	95	99					16																	77389861		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77389861C>T	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.1436G>A	16.37:g.77389861C>T	ENSP00000282849:p.Arg479His						p.R479H	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			9	1854	-			479			Peptidase M12B.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.1436G>A	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044901	0.75732	.	.	ENSG00000140873	ENST00000282849	T	0.08720	3.06	5.19	4.24	0.50183	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.33556	0.0867	M	0.89163	3.01	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.80764	0.982;0.994	T	0.36212	-0.9757	10	0.87932	D	0	.	13.4679	0.61266	0.0:0.9246:0.0:0.0754	.	479;479	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	H	479	ENSP00000282849:R479H	ENSP00000282849:R479H	R	-	2	0	ADAMTS18	75947362	1.000000	0.71417	0.910000	0.35882	0.335000	0.28730	5.859000	0.69539	1.561000	0.49584	0.655000	0.94253	CGC		0.488	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			46	58	0	0	0	0.124865	0	46	58					T	77389861	C	T	77389861	3	4	8	1	0	0	0	0	1	0	0	0	263	768	27	1	2289	1	ADAMTS18	16	77389861	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	45954058	77389861	12964892	54	292											
C17orf74	201243	broad.mit.edu	37	chr17	7330441	7330441	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggctacagctcccaggaCccccgtgaggtgcggcgtcg	15	14	0	1			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr17:7330441C>T	ENST00000333870.3	+	3	1205	c.1131C>T	c.(1129-1131)gaC>gaT	p.D377D	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_3'UTR	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	377						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				GCTCCCAGGACCCCCGTGAGG	0.682																																						ENST00000333870.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22						c.(1129-1131)gaC>gaT		chromosome 17 open reading frame 74							27	35	32					17																	7330441		2102	4209	6311	SO:0001819	synonymous_variant	201243					integral to membrane		g.chr17:7330441C>T	BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.1131C>T	17.37:g.7330441C>T						RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_3'UTR	p.D377D	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN			3	1205	+		Prostate(122;0.157)	377						Silent	SNP	ENST00000333870.3	37	c.1131C>T	CCDS42255.1																																																																																				0.682	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734		10	27	0	0	0	0.058154	0	10	27					T	7330441	C	T	7330441	2	4	8	1	0	0	0	0	0	0	0	1	1879	506	18	2		2	C17orf74	17	7330441	Silent	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08		7330441	73864769	55	293											
TK1	7083	broad.mit.edu	37	chr17	76170913	76170913	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagccacggcttcccctggcTttcctggcactgggcagttc	11	16	0	0			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr17:76170913T>G	ENST00000301634.7	-	7	870	c.632A>C	c.(631-633)aAg>aCg	p.K211T	TK1_ENST00000590862.1_Intron|TK1_ENST00000588734.1_Missense_Mutation_p.K244T|TK1_ENST00000405273.1_Missense_Mutation_p.K211T|TK1_ENST00000590430.1_3'UTR	NM_003258.4	NP_003249.3	P04183	KITH_HUMAN	thymidine kinase 1, soluble	211					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|digestive tract development (GO:0048565)|DNA replication (GO:0006260)|fetal process involved in parturition (GO:0060138)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to copper ion (GO:0046688)|response to cortisol (GO:0051414)|response to nutrient levels (GO:0031667)|response to toxic substance (GO:0009636)|skeletal muscle cell proliferation (GO:0014856)|small molecule metabolic process (GO:0044281)|thymidine metabolic process (GO:0046104)	cytosol (GO:0005829)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|nucleoside kinase activity (GO:0019206)|thymidine kinase activity (GO:0004797)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|urinary_tract(2)	4			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23)		Trifluridine(DB00432)|Zidovudine(DB00495)	TTCCCCTGGCTTTCCTGGCAC	0.632																																						ENST00000588734.1																			0				endometrium(1)|large_intestine(1)|urinary_tract(2)	4						c.(730-732)aAg>aCg		thymidine kinase 1, soluble							43	41	42					17																	76170913		2203	4300	6503	SO:0001583	missense	7083				DNA replication|protein homotetramerization|pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|thymidine kinase activity|zinc ion binding	g.chr17:76170913T>G		CCDS11754.1	17q23.2-q25.3	2012-10-02			ENSG00000167900	ENSG00000167900	2.7.1.21		11830	protein-coding gene	gene with protein product		188300					Standard	NM_003258		Approved		uc002juw.2	P04183	OTTHUMG00000150674	ENST00000301634.7:c.632A>C	17.37:g.76170913T>G	ENSP00000301634:p.Lys211Thr					TK1_ENST00000590862.1_Intron|TK1_ENST00000590430.1_3'UTR|TK1_ENST00000405273.1_Missense_Mutation_p.K211T|TK1_ENST00000301634.7_Missense_Mutation_p.K211T	p.K244T			P04183	KITH_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23)		6	969	-			211					B2RC58|Q969V0|Q9UMG9	Missense_Mutation	SNP	ENST00000301634.7	37	c.731A>C	CCDS11754.1	.	.	.	.	.	.	.	.	.	.	T	5.678	0.309615	0.10733	.	.	ENSG00000167900	ENST00000301634;ENST00000405273	.	.	.	5.47	-0.134	0.13481	.	0.574682	0.19491	N	0.113000	T	0.23688	0.0573	L	0.29908	0.895	0.09310	N	1	B;B	0.27559	0.083;0.181	B;B	0.26416	0.022;0.069	T	0.17410	-1.0370	9	0.18710	T	0.47	-13.9362	6.0327	0.19688	0.0:0.3968:0.1407:0.4624	.	211;211	B5BU32;P04183	.;KITH_HUMAN	T	211	.	ENSP00000301634:K211T	K	-	2	0	TK1	73682508	0.484000	0.25964	0.016000	0.15963	0.030000	0.12068	0.294000	0.19047	-0.007000	0.14345	-0.290000	0.09829	AAG		0.632	TK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319577.1	NM_003258		8	11	0	0	0	0.058154	0	8	11					G	76170913	T	G	76170913	3	3	8	1	0	0	0	0	1	0	0	0	15929	1609	56	5	76	5	TK1	17	76170913	Missense_Mutation	SNP	T	TCGA-BJ-A0ZB-01A-11D-A10S-08	68840472	76170913	5024297	56	294											
DNASE2	1777	broad.mit.edu	37	chr19	12991901	12991901	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctctcgtccagatacttgTactgcagccctctctgcgcc	8	16	2	1			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr19:12991901T>C	ENST00000222219.3	-	2	244	c.152A>G	c.(151-153)tAc>tGc	p.Y51C	CTD-2265O21.7_ENST00000592400.1_RNA|DNASE2_ENST00000538460.1_Missense_Mutation_p.Y51C	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal	51					apoptotic DNA fragmentation (GO:0006309)|DNA metabolic process (GO:0006259)|erythrocyte differentiation (GO:0030218)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)|DNA binding (GO:0003677)			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						CAGATACTTGTACTGCAGCCC	0.647																																						ENST00000222219.3																			0				breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						c.(151-153)tAc>tGc		deoxyribonuclease II, lysosomal							38	43	41					19																	12991901		2203	4300	6503	SO:0001583	missense	1777				apoptosis	lysosome	deoxyribonuclease II activity|DNA binding|protein binding	g.chr19:12991901T>C	AF045937	CCDS12284.1	19p13.2	2012-10-02			ENSG00000105612	ENSG00000105612	3.1.22.1		2960	protein-coding gene	gene with protein product		126350		DNL, DNL2		1586130	Standard	NM_001375		Approved		uc002mvn.1	O00115		ENST00000222219.3:c.152A>G	19.37:g.12991901T>C	ENSP00000222219:p.Tyr51Cys					CTD-2265O21.7_ENST00000592400.1_RNA|DNASE2_ENST00000538460.1_Missense_Mutation_p.Y51C	p.Y51C	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN			2	244	-			51					B2RD06|B7Z4K6|O43910	Missense_Mutation	SNP	ENST00000222219.3	37	c.152A>G	CCDS12284.1	.	.	.	.	.	.	.	.	.	.	T	16.83	3.231947	0.58777	.	.	ENSG00000105612	ENST00000222219;ENST00000538460	T;T	0.16743	2.32;2.32	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.50871	0.1641	M	0.93062	3.375	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.62690	-0.6801	10	0.72032	D	0.01	.	13.3146	0.60399	0.0:0.0:0.0:1.0	.	51;51	B7Z4K6;O00115	.;DNS2A_HUMAN	C	51	ENSP00000222219:Y51C;ENSP00000445988:Y51C	ENSP00000222219:Y51C	Y	-	2	0	DNASE2	12852901	1.000000	0.71417	0.924000	0.36721	0.143000	0.21401	5.780000	0.68956	2.045000	0.60652	0.459000	0.35465	TAC		0.647	DNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451790.1			29	55	0	0	0	0.054565	0	29	55					C	12991901	T	C	12991901	3	2	8	1	0	0	0	0	1	0	0	0	4664	1638	57	3	950	3	DNASE2	19	12991901	Missense_Mutation	SNP	T	TCGA-BJ-A0ZB-01A-11D-A10S-08		12991901	46137082	57	295											
EPS15L1	58513	broad.mit.edu	37	chr19	16548625	16548625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcagattgctcaaggtaaCttcatggccactctgtgcac	8	11	4	1			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr19:16548625C>T	ENST00000248070.6	-	5	404	c.265G>A	c.(265-267)Gtt>Att	p.V89I	EPS15L1_ENST00000602009.1_5'Flank|EPS15L1_ENST00000597937.1_Missense_Mutation_p.V89I|EPS15L1_ENST00000455140.2_Missense_Mutation_p.V89I|EPS15L1_ENST00000535753.2_Missense_Mutation_p.V89I|EPS15L1_ENST00000594975.1_Missense_Mutation_p.V89I	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	89	EH 1. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						CTCAAGGTAACTTCATGGCCA	0.468																																						ENST00000597937.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						c.(265-267)Gtt>Att		epidermal growth factor receptor pathway substrate 15-like 1							123	104	111					19																	16548625		2203	4300	6503	SO:0001583	missense	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16548625C>T	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"EF-hand domain containing"	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.265G>A	19.37:g.16548625C>T	ENSP00000248070:p.Val89Ile					EPS15L1_ENST00000594975.1_Missense_Mutation_p.V89I|EPS15L1_ENST00000248070.6_Missense_Mutation_p.V89I|EPS15L1_ENST00000455140.2_Missense_Mutation_p.V89I|EPS15L1_ENST00000535753.2_Missense_Mutation_p.V89I	p.V89I	NM_001258376.1	NP_001245305.1	Q9UBC2	EP15R_HUMAN			5	269	-			89			EH 1.		A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	ENST00000248070.6	37	c.265G>A	CCDS32944.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.246378	0.39697	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	T;T;T	0.31510	1.9;1.91;1.49	5.02	3.98	0.46160	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.064527	0.64402	D	0.000007	T	0.20861	0.0502	N	0.16602	0.42	0.47819	D	0.999528	B;B;B;B;B	0.22541	0.005;0.071;0.053;0.005;0.004	B;B;B;B;B	0.29785	0.044;0.107;0.083;0.023;0.008	T	0.04723	-1.0931	10	0.23302	T	0.38	.	12.8143	0.57657	0.0:0.9206:0.0:0.0794	.	89;89;89;89;89	A8K5P4;A5PL29;A2RRF3;Q9UBC2;G3V0H2	.;.;.;EP15R_HUMAN;.	I	89	ENSP00000393313:V89I;ENSP00000248070:V89I;ENSP00000440103:V89I	ENSP00000248070:V89I	V	-	1	0	EPS15L1	16409625	0.860000	0.29831	0.771000	0.31576	0.901000	0.52897	1.607000	0.36836	1.120000	0.41904	0.561000	0.74099	GTT		0.468	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		7	53	0	0	0	0.02938	0	7	53					T	16548625	C	T	16548625	3	4	8	1	0	0	0	0	1	0	0	0	5193	565	20	2	2405	2	EPS15L1	19	16548625	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	3556724	16548625	42580358	58	296											
KIR2DL1	3811	broad.mit.edu	37	chr19	55286820	55286820	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcctctgggccctgccaccCacggagggacctacagatgc	11	16	1	1			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr19:55286820C>A	ENST00000538269.1	+	2	61				KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL1_ENST00000336077.6_Missense_Mutation_p.H192N|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.H192N|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CCCTGCCACCCACGGAGGGAC	0.567																																						ENST00000336077.6																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						c.(574-576)Cac>Aac		killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1							136	148	144					19																	55286820		2101	4166	6267	SO:0001627	intron_variant	3802				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr19:55286820C>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-42169C>A	19.37:g.55286820C>A						KIR2DL1_ENST00000291633.7_Missense_Mutation_p.H192N|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Intron	p.H192N	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	4	614	+			192			Ig-like C2-type 2.		O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37	c.574C>A		.	.	.	.	.	.	.	.	.	.	C	11.24	1.579883	0.28180	.	.	ENSG00000125498	ENST00000336077;ENST00000291633	T;T	0.21932	1.98;1.98	1.1	-0.0407	0.13871	.	.	.	.	.	T	0.40886	0.1135	M	0.88181	2.935	0.09310	N	1	P;P	0.48764	0.878;0.915	P;P	0.58331	0.802;0.837	T	0.24835	-1.0149	9	0.87932	D	0	.	3.4299	0.07425	0.0:0.7035:0.0:0.2965	.	192;192	Q6IST4;Q6H2H3	.;.	N	192	ENSP00000336769:H192N;ENSP00000291633:H192N	ENSP00000291633:H192N	H	+	1	0	KIR2DL1	59978632	0.001000	0.12720	0.009000	0.14445	0.070000	0.16714	0.264000	0.18497	0.045000	0.15804	0.184000	0.17185	CAC		0.567	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		8	148	1	0	0.00307968	0.038147	0.00328499	8	148					A	55286820	C	A	55286820	1	1	8	0	1	0	0	0	0	0	0	0	8316	594	21	4		4	KIR2DL1	19	55286820	Intron	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	38738195	55286820	3842163	59	297											
SFRS15	57466	broad.mit.edu	37	chr21	33043813	33043813	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aggctttaggactgcagcctCagacacccccttctcaagtt	8	14	2	1			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr21:33043813C>G	ENST00000286835.7	-	20	3725	c.3343G>C	c.(3343-3345)Gag>Cag	p.E1115Q	SCAF4_ENST00000434667.3_Missense_Mutation_p.E1100Q|SCAF4_ENST00000399804.1_Missense_Mutation_p.E1093Q	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	1115						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						ACTGCAGCCTCAGACACCCCC	0.517																																						ENST00000286835.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(3343-3345)Gag>Cag		SR-related CTD-associated factor 4							117	109	112					21																	33043813		2203	4300	6503	SO:0001583	missense	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33043813C>G	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"RNA binding motif (RRM) containing"	19304	protein-coding gene	gene with protein product			"splicing factor, arginine/serine-rich 15"	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.3343G>C	21.37:g.33043813C>G	ENSP00000286835:p.Glu1115Gln					SCAF4_ENST00000434667.3_Missense_Mutation_p.E1100Q|SCAF4_ENST00000399804.1_Missense_Mutation_p.E1093Q	p.E1115Q	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN			20	3725	-			1115					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	c.3343G>C	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	C	9.128	1.010574	0.19277	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.22134	1.97;1.97;1.97	5.09	3.95	0.45737	.	0.121046	0.35903	N	0.002914	T	0.18882	0.0453	N	0.24115	0.695	0.23809	N	0.996782	P;B;B	0.34546	0.456;0.023;0.013	B;B;B	0.43225	0.412;0.049;0.022	T	0.16512	-1.0400	10	0.30078	T	0.28	-3.7783	11.7068	0.51601	0.0:0.8887:0.0:0.1113	.	1100;1093;1115	C9JLZ0;O95104-2;O95104	.;.;SFR15_HUMAN	Q	1100;1115;1093	ENSP00000402377:E1100Q;ENSP00000286835:E1115Q;ENSP00000382703:E1093Q	ENSP00000286835:E1115Q	E	-	1	0	SCAF4	31965684	0.469000	0.25846	0.271000	0.24616	0.474000	0.32979	0.792000	0.26929	1.132000	0.42129	0.655000	0.94253	GAG		0.517	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		7	100	0	0	0	0.038147	0	7	100					G	33043813	C	G	33043813	3	3	8	1	0	0	0	0	1	0	0	0	14171	835	29	4	104	4	SFRS15	21	33043813	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08		33043813	15086082	60	298											
RAB36	9609	broad.mit.edu	37	chr22	23487734	23487734	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccccagctttcacagccatCgctggtgagtcagctcgccc	10	17	2	1			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr22:23487734C>T	ENST00000263116.2	+	1	222	c.182C>T	c.(181-183)tCg>tTg	p.S61L	RAB36_ENST00000341989.4_Missense_Mutation_p.S61L|RTDR1_ENST00000406876.1_5'Flank	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	61					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		TCACAGCCATCGCTGGTGAGT	0.721																																						ENST00000263116.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(181-183)tCg>tTg		RAB36, member RAS oncogene family							18	22	21					22																	23487734		2200	4296	6496	SO:0001583	missense	9609				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	g.chr22:23487734C>T	AB023061	CCDS13805.1	22q11.22	2008-06-11			ENSG00000100228	ENSG00000100228		"RAB, member RAS oncogene"	9775	protein-coding gene	gene with protein product		605662				9920784, 10591208	Standard	NM_004914		Approved		uc002zwv.1	O95755	OTTHUMG00000150601	ENST00000263116.2:c.182C>T	22.37:g.23487734C>T	ENSP00000263116:p.Ser61Leu					RAB36_ENST00000341989.4_Missense_Mutation_p.S61L	p.S61L	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN		READ - Rectum adenocarcinoma(21;0.155)	1	222	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		61					Q2M390|Q7Z4A9|Q9UHP5	Missense_Mutation	SNP	ENST00000263116.2	37	c.182C>T	CCDS13805.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.302984	0.23736	.	.	ENSG00000100228	ENST00000263116;ENST00000341989;ENST00000418881	T;T	0.64085	-0.08;0.27	3.89	-7.77	0.01227	.	2.696310	0.01537	N	0.019058	T	0.37517	0.1006	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.23048	-1.0199	10	0.62326	D	0.03	-0.892	0.5899	0.00726	0.2884:0.1328:0.1906:0.3881	.	61;61	O95755-2;O95755	.;RAB36_HUMAN	L	61;61;22	ENSP00000263116:S61L;ENSP00000343494:S61L	ENSP00000263116:S61L	S	+	2	0	RAB36	21817734	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.465000	0.00995	-2.948000	0.00294	-2.373000	0.00235	TCG		0.721	RAB36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319046.1	NM_004914		3	41	0	0	0	0.009096	0	3	41					T	23487734	C	T	23487734	3	4	8	1	0	0	0	0	1	0	0	0	12926	893	31	1	184	1	RAB36	22	23487734	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08		23487734	27816832	61	299											
ARHGAP6	395	broad.mit.edu	37	chrX	11200233	11200233	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggaatatccccactgtctGgaggcctgcaaataagcaaa	9	11	1	0			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chrX:11200233G>A	ENST00000337414.4	-	6	2151	c.1279C>T	c.(1279-1281)Cag>Tag	p.Q427*	ARHGAP6_ENST00000413512.3_Nonsense_Mutation_p.Q236*|ARHGAP6_ENST00000380732.3_Nonsense_Mutation_p.Q459*|ARHGAP6_ENST00000380736.1_Nonsense_Mutation_p.Q224*|ARHGAP6_ENST00000380718.1_Nonsense_Mutation_p.Q427*|ARHGAP6_ENST00000303025.6_Nonsense_Mutation_p.Q224*|ARHGAP6_ENST00000491514.1_5'Flank|ARHGAP6_ENST00000534860.1_Nonsense_Mutation_p.Q252*	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	427	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CCCACTGTCTGGAGGCCTGCA	0.398																																						ENST00000337414.4																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1279-1281)Cag>Tag		Rho GTPase activating protein 6							159	152	155					X																	11200233		2203	4300	6503	SO:0001587	stop_gained	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11200233G>A	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"Rho GTPase activating proteins"	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.1279C>T	X.37:g.11200233G>A	ENSP00000338967:p.Gln427*					ARHGAP6_ENST00000534860.1_Nonsense_Mutation_p.Q252*|ARHGAP6_ENST00000380736.1_Nonsense_Mutation_p.Q224*|ARHGAP6_ENST00000303025.6_Nonsense_Mutation_p.Q224*|ARHGAP6_ENST00000413512.3_Nonsense_Mutation_p.Q236*|ARHGAP6_ENST00000380718.1_Nonsense_Mutation_p.Q427*|ARHGAP6_ENST00000380732.3_Nonsense_Mutation_p.Q459*	p.Q427*	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN			6	2151	-			427			Rho-GAP.		B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Nonsense_Mutation	SNP	ENST00000337414.4	37	c.1279C>T	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	G	48	14.538669	0.99800	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	.	.	.	5.66	5.66	0.87406	.	0.000000	0.50627	D	0.000101	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	18.7976	0.92001	0.0:0.0:1.0:0.0	.	.	.	.	X	252;224;224;427;263;427;236;459	.	ENSP00000302312:Q224X	Q	-	1	0	ARHGAP6	11110154	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.027000	0.93706	2.385000	0.81259	0.600000	0.82982	CAG		0.398	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		6	165	0	0	0	0.021553	0	6	165					A	11200233	G	A	11200233	4	1	8	1	0	0	0	0	0	1	0	0	887	1357	47	2	1799	2	ARHGAP6	23	11200233	Nonsense_Mutation	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08		11200233	144070327	62	300											
TEX11	56159	broad.mit.edu	37	chrX	70053437	70053438	+	Frame_Shift_Ins	INS	-	-	AACT													ctttgaaaatccccttgagcINSaactgcctgaaaaagataaa							TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chrX:70053437_70053438insAACT	ENST00000395889.2	-	9	731_732	c.576_577insAGTT	c.(574-579)gttgctfs	p.A193fs	TEX11_ENST00000374333.2_Frame_Shift_Ins_p.A178fs|TEX11_ENST00000344304.3_Frame_Shift_Ins_p.A193fs	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	193					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TCCCCTTGAGCAACTGCCTGAA	0.356																																						ENST00000395889.2																			0				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48						c.(574-579)gtctcafs		testis expressed 11																																				SO:0001589	frameshift_variant	0						protein binding	g.chrX:70053437_70053438insAACT	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"testis expressed sequence 11"			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.573_576dupAGTT	X.37:g.70053438_70053441dupAACT	ENSP00000379226:p.Ala193fs					TEX11_ENST00000374333.2_Frame_Shift_Ins_p.S178fs|TEX11_ENST00000344304.3_Frame_Shift_Ins_p.S193fs	p.S193fs	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN			9	731_732	-	Renal(35;0.156)		193					A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Frame_Shift_Ins	INS	ENST00000395889.2	37	c.576_577insAGTT	CCDS35323.1																																																																																				0.356	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			23	11						23	11	---	---	---	---	AACT	70053438	-	AACT	70053437	7	5	8	1	0	1	1	0	0	0	0	0	15771	710	25	0	2337	0	TEX11	23	70053437	Frame_Shift_Ins	INS	-	TCGA-BJ-A0ZB-01A-11D-A10S-08	58853204	70053437	85217123	63	301											
AMIGO1	57463	broad.mit.edu	37	chr1	110050830	110050830	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagctgccgatactgccaGtgtgaaaacagctggtagag	12	10	1	2			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr1:110050830G>A	ENST00000369864.4	-	2	1054	c.705C>T	c.(703-705)caC>caT	p.H235H	AMIGO1_ENST00000369862.1_Silent_p.H235H					adhesion molecule with Ig-like domain 1											autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		GATACTGCCAGTGTGAAAACA	0.517																																						ENST00000369864.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(703-705)caC>caT		adhesion molecule with Ig-like domain 1							74	73	73					1																	110050830		2203	4300	6503	SO:0001819	synonymous_variant	57463				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane		g.chr1:110050830G>A		CCDS30795.1	1p13.3	2013-01-11			ENSG00000181754	ENSG00000181754		"Immunoglobulin superfamily / V-set domain containing"	20824	protein-coding gene	gene with protein product	"amphoterin-induced gene and open reading frame"	615689				12629050	Standard	NM_020703		Approved	AMIGO, KIAA1163	uc001dxx.4	Q86WK6	OTTHUMG00000011653	ENST00000369864.4:c.705C>T	1.37:g.110050830G>A						AMIGO1_ENST00000369862.1_Silent_p.H235H	p.H235H			Q86WK6	AMGO1_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)	2	1054	-		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	235			LRRCT.			Silent	SNP	ENST00000369864.4	37	c.705C>T	CCDS30795.1																																																																																				0.517	AMIGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032247.1	NM_020703		3	83	0	0	0	1	0	3	83					A	110050830	G	A	110050830	2	1	9	1	0	0	0	0	0	0	0	1	575	1020	36	2		2	AMIGO1	1	110050830	Silent	SNP	G	TCGA-BJ-A0ZC-01A-12D-A13W-08		110050830	139199791	1	302											
RC3H1	149041	broad.mit.edu	37	chr1	173934152	173934152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctagggagatccactgcacCttcatctggaaggatagctg	12	10	2	1			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr1:173934152C>T	ENST00000367696.2	-	10	1792	c.1441G>A	c.(1441-1443)Ggt>Agt	p.G481S	RC3H1_ENST00000367694.2_Missense_Mutation_p.G481S|RC3H1_ENST00000258349.4_Missense_Mutation_p.G481S			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	481					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TCCACTGCACCTTCATCTGGA	0.498																																						ENST00000367696.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						c.(1441-1443)Ggt>Agt		ring finger and CCCH-type domains 1							124	114	117					1																	173934152		2203	4300	6503	SO:0001583	missense	149041				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:173934152C>T	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	29434	protein-coding gene	gene with protein product	"KIAA2025 protein"	609424	"ring finger and CCCH-type zinc finger domains 1"			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.1441G>A	1.37:g.173934152C>T	ENSP00000356669:p.Gly481Ser					RC3H1_ENST00000367694.2_Missense_Mutation_p.G481S|RC3H1_ENST00000258349.4_Missense_Mutation_p.G481S	p.G481S			Q5TC82	RC3H1_HUMAN			10	1792	-			481					B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	c.1441G>A	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.046210	0.55110	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.48522	0.81;0.81;0.82	5.8	1.81	0.25067	.	0.415206	0.30704	N	0.009059	T	0.38188	0.1031	L	0.55481	1.735	0.42273	D	0.992069	B;B;B;B	0.12013	0.005;0.002;0.001;0.0	B;B;B;B	0.12156	0.004;0.004;0.007;0.003	T	0.13872	-1.0493	10	0.42905	T	0.14	-0.1841	6.7272	0.23363	0.1257:0.6711:0.0:0.2032	.	481;481;481;481	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	S	481	ENSP00000356669:G481S;ENSP00000258349:G481S;ENSP00000356667:G481S	ENSP00000258349:G481S	G	-	1	0	RC3H1	172200775	0.993000	0.37304	0.996000	0.52242	0.991000	0.79684	1.030000	0.30153	0.073000	0.16731	0.655000	0.94253	GGT		0.498	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		3	121	0	0	0	1	0	3	121					T	173934152	C	T	173934152	3	4	9	1	0	0	0	0	1	0	0	0	13166	681	24	2	2004	2	RC3H1	1	173934152	Missense_Mutation	SNP	C	TCGA-BJ-A0ZC-01A-12D-A13W-08	63883322	173934152	75316469	2	303											
NPR3	4883	broad.mit.edu	37	chr5	32774825	32774825	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttttcaggttaacatgttTgttgaaggattccacgatgc	9	7	2	1			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr5:32774825T>C	ENST00000265074.8	+	4	1414	c.1071T>C	c.(1069-1071)ttT>ttC	p.F357F	NPR3_ENST00000415167.2_Silent_p.F357F|NPR3_ENST00000415685.2_Silent_p.F141F|NPR3_ENST00000434067.2_Silent_p.F141F	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	357					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TTAACATGTTTGTTGAAGGAT	0.433																																						ENST00000265074.8																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(1069-1071)ttT>ttC		natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	Nesiritide(DB04899)						192	185	187					5																	32774825		1899	4102	6001	SO:0001819	synonymous_variant	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32774825T>C		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"guanylate cyclase C"	108962	"chromosome 5 open reading frame 23", "atrionatriuretic peptide receptor C", "natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)", "natriuretic peptide receptor C"	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.1071T>C	5.37:g.32774825T>C						NPR3_ENST00000415685.2_Silent_p.F141F|NPR3_ENST00000415167.2_Silent_p.F357F|NPR3_ENST00000434067.2_Silent_p.F141F	p.F357F	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN			4	1414	+			357					A2RRD1|B4DT84|E7EPG9	Silent	SNP	ENST00000265074.8	37	c.1071T>C	CCDS56357.1																																																																																				0.433	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		6	282	0	0	0	1	0	6	282					C	32774825	T	C	32774825	2	2	9	1	0	0	0	0	0	0	0	1	10596	1809	63	3		3	NPR3	5	32774825	Silent	SNP	T	TCGA-BJ-A0ZC-01A-12D-A13W-08		32774825	148140435	3	304											
RNF14	9604	broad.mit.edu	37	chr5	141364442	141364442	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tggatttgcatgggttctctCtctagagcaaacccttacaa	8	10	2	1			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr5:141364442C>G	ENST00000394520.2	+	8	1620	c.1311C>G	c.(1309-1311)ctC>ctG	p.L437L	RNF14_ENST00000394514.2_Silent_p.L311L|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000356143.1_Silent_p.L437L|RNF14_ENST00000347642.3_Silent_p.L437L|RNF14_ENST00000394519.1_Silent_p.L437L|RNF14_ENST00000394515.3_Silent_p.L261L|RNF14_ENST00000540015.1_Silent_p.L134L	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	437	Interaction with androgen receptor.				androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription, DNA-templated (GO:0045893)|protein ubiquitination (GO:0016567)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|small conjugating protein ligase activity (GO:0019787)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		TGGGTTCTCTCTCTAGAGCAA	0.403																																						ENST00000394520.2																			0				cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1309-1311)ctC>ctG		ring finger protein 14							131	123	125					5																	141364442		2203	4300	6503	SO:0001819	synonymous_variant	9604				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding	g.chr5:141364442C>G	AF060544	CCDS4270.1, CCDS4271.1	5q23.3-q31.1	2008-02-05			ENSG00000013561	ENSG00000013561		"RING-type (C3HC4) zinc fingers"	10058	protein-coding gene	gene with protein product		605675				10085091, 10320776	Standard	NM_183399		Approved	ARA54, HFB30, TRIAD2	uc003lmc.3	Q9UBS8	OTTHUMG00000129660	ENST00000394520.2:c.1311C>G	5.37:g.141364442C>G						RNF14_ENST00000394515.3_Silent_p.L261L|RNF14_ENST00000394514.2_Silent_p.L311L|RNF14_ENST00000540015.1_Silent_p.L134L|RNF14_ENST00000356143.1_Silent_p.L437L|RNF14_ENST00000347642.3_Silent_p.L437L|RNF14_ENST00000394519.1_Silent_p.L437L	p.L437L	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)	8	1620	+		all_hematologic(541;0.0536)|Ovarian(839;0.118)	437			Interaction with androgen receptor.		A0AV26|A6NMR2|A8MTW5|B3KN72|B7ZLV2|D3DQE4|O94793|Q6IBV0	Silent	SNP	ENST00000394520.2	37	c.1311C>G	CCDS4270.1																																																																																				0.403	RNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251860.2	NM_004290		4	229	0	0	0	1	0	4	229					G	141364442	C	G	141364442	2	3	9	1	0	0	0	0	0	0	0	1	13443	900	32	4		4	RNF14	5	141364442	Silent	SNP	C	TCGA-BJ-A0ZC-01A-12D-A13W-08	108589617	141364442	39550818	4	305											
FOXQ1	94234	broad.mit.edu	37	chr6	1313344	1313344	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccatggccatccgcgactcGgcgggcgggcgcttgacgct	16	15	0	1			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr6:1313344G>T	ENST00000296839.2	+	1	670	c.405G>T	c.(403-405)tcG>tcT	p.S135S		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	135					hair follicle morphogenesis (GO:0031069)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		TCCGCGACTCGGCGGGCGGGC	0.687																																						ENST00000296839.2																			0				lung(1)|urinary_tract(1)	2						c.(403-405)tcG>tcT		forkhead box Q1							26	30	28					6																	1313344		2153	4214	6367	SO:0001819	synonymous_variant	94234				DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor 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|ubiquitin conjugating enzyme binding	g.chr6:1313344G>T	AF153341	CCDS4471.1	6p25	2008-02-05			ENSG00000164379	ENSG00000164379		"Forkhead boxes"	20951	protein-coding gene	gene with protein product		612788				11747606, 12011061	Standard	NM_033260		Approved	HFH1	uc003mtl.4	Q9C009	OTTHUMG00000016160	ENST00000296839.2:c.405G>T	6.37:g.1313344G>T							p.S135S	NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)	1	670	+	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	135					Q9NS06	Silent	SNP	ENST00000296839.2	37	c.405G>T	CCDS4471.1																																																																																				0.687	FOXQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043410.1	NM_033260		3	18	1	0	0.115264	1	0.13743	3	18					T	1313344	G	T	1313344	2	4	9	1	0	0	0	0	0	0	0	1	6030	1103	39	4		4	FOXQ1	6	1313344	Silent	SNP	G	TCGA-BJ-A0ZC-01A-12D-A13W-08		1313344	169801723	5	306											
HIST1H4L	8368	broad.mit.edu	37	chr6	27841025	27841025	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccctggcgcttgagcgcgtaAaccacgtccatggctgtgac	12	14	0	2			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr6:27841025A>T	ENST00000355981.2	-	1	264	c.264T>A	c.(262-264)gtT>gtA	p.V88V	HIST1H3I_ENST00000328488.2_5'Flank	NM_003546.2	NP_003537.1	P62805	H4_HUMAN	histone cluster 1, H4l	88					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	13						TGAGCGCGTAAACCACGTCCA	0.542																																						ENST00000355981.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(262-264)gtT>gtA		histone cluster 1, H4l							92	85	87					6																	27841025		2203	4300	6503	SO:0001819	synonymous_variant	8368				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27841025A>T	X83548	CCDS4637.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198558	ENSG00000275126		"Histones / Replication-dependent"	4791	protein-coding gene	gene with protein product		602831	"H4 histone family, member K", "histone 1, H4l"	H4FK		9031620, 9439656, 12408966	Standard	NM_003546		Approved	H4.k, H4/k	uc003njz.3	P62805	OTTHUMG00000016211	ENST00000355981.2:c.264T>A	6.37:g.27841025A>T							p.V88V	NM_003546.2	NP_003537.1	P62805	H4_HUMAN			1	264	-			88					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000355981.2	37	c.264T>A	CCDS4637.1																																																																																				0.542	HIST1H4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043513.1	NM_003546		36	48	0	0	0	1	0	36	48					T	27841025	A	T	27841025	2	4	9	1	0	0	0	0	0	0	0	1	7176	1	1	5		5	HIST1H4L	6	27841025	Silent	SNP	A	TCGA-BJ-A0ZC-01A-12D-A13W-08	26527681	27841025	143274042	6	307											
RBPMS	11030	broad.mit.edu	37	chr8	30361916	30361916	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaccccagtactcctctGcccaacactgtacctcagtt	4	18	2	0			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr8:30361916G>A	ENST00000320203.4	+	5	942	c.360G>A	c.(358-360)ctG>ctA	p.L120L	RBPMS_ENST00000517860.1_Silent_p.L120L|RBPMS_ENST00000397323.4_Silent_p.L120L|RBPMS_ENST00000538486.1_Silent_p.L120L|RBPMS_ENST00000339877.4_Silent_p.L120L|RBPMS_ENST00000519647.1_Silent_p.L16L|RBPMS_ENST00000520191.1_Silent_p.L16L|RBPMS_ENST00000287771.5_Silent_p.L120L|RBPMS_ENST00000520161.1_Silent_p.L16L	NM_006867.2	NP_006858.1	Q93062	RBPMS_HUMAN	RNA binding protein with multiple splicing	120					positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		GTACTCCTCTGCCCAACACTG	0.433																																						ENST00000320203.4																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(358-360)ctG>ctA		RNA binding protein with multiple splicing							153	130	138					8																	30361916		2203	4300	6503	SO:0001819	synonymous_variant	11030				positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity	g.chr8:30361916G>A	D84110	CCDS6077.1, CCDS34875.1, CCDS34876.1	8p12	2013-06-07			ENSG00000157110	ENSG00000157110		"RNA binding motif (RRM) containing"	19097	protein-coding gene	gene with protein product		601558				8855282	Standard	NM_001008710		Approved	HERMES	uc003xib.3	Q93062	OTTHUMG00000163845	ENST00000320203.4:c.360G>A	8.37:g.30361916G>A						RBPMS_ENST00000519647.1_Silent_p.L16L|RBPMS_ENST00000397323.4_Silent_p.L120L|RBPMS_ENST00000339877.4_Silent_p.L120L|RBPMS_ENST00000287771.5_Silent_p.L120L|RBPMS_ENST00000520161.1_Silent_p.L16L|RBPMS_ENST00000517860.1_Silent_p.L120L|RBPMS_ENST00000538486.1_Silent_p.L120L|RBPMS_ENST00000520191.1_Silent_p.L16L	p.L120L	NM_006867.2	NP_006858.1	Q93062	RBPMS_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)	5	942	+			120					D3DSU9|Q92516|Q92517|Q92518|Q96J26	Silent	SNP	ENST00000320203.4	37	c.360G>A	CCDS6077.1																																																																																				0.433	RBPMS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376357.2			12	131	0	0	0	1	0	12	131					A	30361916	G	A	30361916	2	1	9	1	0	0	0	0	0	0	0	1	13163	1306	46	2		2	RBPMS	8	30361916	Silent	SNP	G	TCGA-BJ-A0ZC-01A-12D-A13W-08		30361916	116002106	7	308											
RALYL	138046	broad.mit.edu	37	chr8	85785580	85785580	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagatcaaaactaaaattgaCtccttgctagggcgcctgga	9	10	1	2			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr8:85785580C>G	ENST00000521268.1	+	7	1738	c.633C>G	c.(631-633)gaC>gaG	p.D211E	RALYL_ENST00000521376.1_Missense_Mutation_p.D122E|RALYL_ENST00000521695.1_Missense_Mutation_p.D211E|RALYL_ENST00000522455.1_Missense_Mutation_p.D211E|RALYL_ENST00000523850.1_Missense_Mutation_p.D138E|RALYL_ENST00000518566.1_Missense_Mutation_p.D200E|RALYL_ENST00000517638.1_Missense_Mutation_p.D224E	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	211							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CTAAAATTGACTCCTTGCTAG	0.428																																						ENST00000521268.1																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						c.(631-633)gaC>gaG		RALY RNA binding protein-like							67	63	64					8																	85785580		1880	4104	5984	SO:0001583	missense	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85785580C>G		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"RNA binding motif (RRM) containing"	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.633C>G	8.37:g.85785580C>G	ENSP00000430367:p.Asp211Glu					RALYL_ENST00000523850.1_Missense_Mutation_p.D138E|RALYL_ENST00000517638.1_Missense_Mutation_p.D224E|RALYL_ENST00000522455.1_Missense_Mutation_p.D211E|RALYL_ENST00000521695.1_Missense_Mutation_p.D211E|RALYL_ENST00000518566.1_Missense_Mutation_p.D200E|RALYL_ENST00000521376.1_Missense_Mutation_p.D122E	p.D211E	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN			7	1738	+			211					B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	SNP	ENST00000521268.1	37	c.633C>G	CCDS55253.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.568118	0.86439	.	.	ENSG00000184672	ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517638;ENST00000523850;ENST00000521376	T;T;T;T;T;T;T	0.34275	1.97;1.97;1.97;1.94;1.92;1.4;1.37	6.16	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.57533	0.2060	M	0.71581	2.175	0.37017	D	0.896006	P;P;D;D;P	0.89917	0.93;0.709;1.0;0.967;0.709	P;B;D;P;B	0.83275	0.668;0.412;0.996;0.822;0.412	T	0.67162	-0.5740	10	0.66056	D	0.02	-12.513	12.4099	0.55461	0.0:0.8661:0.0:0.1339	.	200;211;138;224;211	B3KT61;B3KSX3;Q86SE5-2;G3V129;Q86SE5	.;.;.;.;RALYL_HUMAN	E	211;211;211;200;224;138;122	ENSP00000430394:D211E;ENSP00000428667:D211E;ENSP00000430367:D211E;ENSP00000430065:D200E;ENSP00000430128:D224E;ENSP00000428807:D138E;ENSP00000428310:D122E	ENSP00000430128:D224E	D	+	3	2	RALYL	85948135	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.679000	0.61649	1.623000	0.50342	0.650000	0.86243	GAC		0.428	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1			2	14	0	0	0	1	0	2	14					G	85785580	C	G	85785580	3	3	9	1	0	0	0	0	1	0	0	0	13020	564	20	4	698	4	RALYL	8	85785580	Missense_Mutation	SNP	C	TCGA-BJ-A0ZC-01A-12D-A13W-08	55423664	85785580	60578442	8	309											
ALAD	210	broad.mit.edu	37	chr9	116151734	116151734	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaccttgtcctttacctccCgcacgatgtccaggtagggc	9	15	1	0	rs201865229		TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr9:116151734C>A	ENST00000409155.3	-	10	981	c.785G>T	c.(784-786)cGg>cTg	p.R262L	ALAD_ENST00000277315.5_Missense_Mutation_p.R245L|ALAD_ENST00000482001.1_5'Flank	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	262					cellular response to interleukin-4 (GO:0071353)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protein homooligomerization (GO:0051260)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|identical protein binding (GO:0042802)|lead ion binding (GO:0032791)|porphobilinogen synthase activity (GO:0004655)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	CTTTACCTCCCGCACGATGTC	0.567																																						ENST00000409155.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9						c.(784-786)cGg>cTg		aminolevulinate dehydratase	Aminolevulinic acid(DB00855)						115	110	112					9																	116151734		2203	4300	6503	SO:0001583	missense	210				heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding	g.chr9:116151734C>A	M13928	CCDS6794.2	9q32	2010-04-29	2010-04-29		ENSG00000148218	ENSG00000148218	4.2.1.24		395	protein-coding gene	gene with protein product	"porphobilinogen synthase"	125270	"aminolevulinate, delta-, dehydratase"			6839527, 6378062	Standard	NM_000031		Approved	ALADH, PBGS	uc011lxf.2	P13716	OTTHUMG00000020522	ENST00000409155.3:c.785G>T	9.37:g.116151734C>A	ENSP00000386284:p.Arg262Leu					ALAD_ENST00000277315.5_Missense_Mutation_p.R245L	p.R262L	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN			10	981	-			262					A8K375|B2R6F2|Q16870|Q16871|Q9BVQ9	Missense_Mutation	SNP	ENST00000409155.3	37	c.785G>T	CCDS6794.2	.	.	.	.	.	.	.	.	.	.	C	26.3	4.726558	0.89298	.	.	ENSG00000148218	ENST00000409155;ENST00000277315	D;D	0.87887	-2.31;-2.31	5.56	4.66	0.58398	Aldolase-type TIM barrel (1);	0.048090	0.85682	D	0.000000	D	0.93939	0.8060	M	0.93898	3.47	0.80722	D	1	P;P;P	0.52463	0.872;0.883;0.953	P;P;P	0.57776	0.615;0.773;0.827	D	0.94964	0.8111	10	0.72032	D	0.01	-9.6272	13.888	0.63721	0.0:0.9259:0.0:0.0741	.	262;245;291	P13716;B7Z3I9;P13716-2	HEM2_HUMAN;.;.	L	262;245	ENSP00000386284:R262L;ENSP00000277315:R245L	ENSP00000277315:R245L	R	-	2	0	ALAD	115191555	1.000000	0.71417	0.973000	0.42090	0.922000	0.55478	5.657000	0.67996	1.308000	0.44962	0.655000	0.94253	CGG		0.567	ALAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053724.3	NM_001003945		3	77	1	0	1	1	1	3	77					A	116151734	C	A	116151734	3	1	9	1	0	0	0	0	1	0	0	0	483	652	23	4	219	4	ALAD	9	116151734	Missense_Mutation	SNP	C	TCGA-BJ-A0ZC-01A-12D-A13W-08		116151734	25061697	9	310											
PHF21A	51317	broad.mit.edu	37	chr11	45959840	45959840	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactttttctgcaaacgctGcaaaaatcctcatgaatatc	4	12	2	1			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr11:45959840G>A	ENST00000418153.2	-	15	1672	c.1473C>T	c.(1471-1473)tgC>tgT	p.C491C	PHF21A_ENST00000257821.4_Silent_p.C492C|PHF21A_ENST00000527753.1_5'UTR|PHF21A_ENST00000323180.6_Silent_p.C445C			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	491	Required for transcriptional repression.				blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						TGCAAACGCTGCAAAAATCCT	0.393																																						ENST00000257821.4																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						c.(1474-1476)tgC>tgT		PHD finger protein 21A							81	77	78					11																	45959840		2202	4299	6501	SO:0001819	synonymous_variant	51317				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding	g.chr11:45959840G>A	AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"Zinc fingers, PHD-type"	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.1473C>T	11.37:g.45959840G>A						PHF21A_ENST00000418153.2_Silent_p.C491C|PHF21A_ENST00000323180.6_Silent_p.C445C|PHF21A_ENST00000527753.1_5'UTR	p.C492C	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN			15	2099	-			491			Required for transcriptional repression.		D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Silent	SNP	ENST00000418153.2	37	c.1476C>T	CCDS44578.1																																																																																				0.393	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392583.1	NM_016621		4	94	0	0	0	1	0	4	94					A	45959840	G	A	45959840	2	1	9	1	0	0	0	0	0	0	0	1	11833	1311	46	2		2	PHF21A	11	45959840	Silent	SNP	G	TCGA-BJ-A0ZC-01A-12D-A13W-08		45959840	89046676	10	311											
ASAM	79827	broad.mit.edu	37	chr11	122968529	122968529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggttcccttcattatcggTgagcagccattcaatatcca	7	11	2	1			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr11:122968529T>C	ENST00000448775.2	-	2	500	c.160A>G	c.(160-162)Acc>Gcc	p.T54A		NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	54	Ig-like C2-type 1.				digestive tract development (GO:0048565)	cell surface (GO:0009986)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						TCATTATCGGTGAGCAGCCAT	0.493																																						ENST00000448775.2																			0				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						c.(160-162)Acc>Gcc		CXADR-like membrane protein							161	156	157					11																	122968529		2202	4299	6501	SO:0001583	missense	79827					integral to membrane|tight junction		g.chr11:122968529T>C	BC009371	CCDS8441.1	11q24	2013-01-29			ENSG00000166250	ENSG00000166250		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24039	protein-coding gene	gene with protein product	"adipocyte-specific adhesion molecule", "coxsackie- and adenovirus receptor-like membrane protein", "adipocyte adhesion molecule"	611693				12851705, 14573622	Standard	NM_024769		Approved	ASAM, FLJ22415, ACAM	uc001pyt.3	Q9H6B4		ENST00000448775.2:c.160A>G	11.37:g.122968529T>C	ENSP00000405577:p.Thr54Ala						p.T54A	NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN			2	500	-			54			Ig-like C2-type 1.			Missense_Mutation	SNP	ENST00000448775.2	37	c.160A>G	CCDS8441.1	.	.	.	.	.	.	.	.	.	.	T	14.54	2.567039	0.45694	.	.	ENSG00000166250	ENST00000448775	D	0.94232	-3.38	5.34	5.34	0.76211	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.369558	0.30109	N	0.010383	D	0.87892	0.6292	L	0.39898	1.24	0.30160	N	0.802307	B	0.28820	0.224	B	0.31495	0.131	T	0.77988	-0.2380	10	0.05833	T	0.94	.	10.8487	0.46757	0.0:0.0:0.1574:0.8426	.	54	Q9H6B4	CLMP_HUMAN	A	54	ENSP00000405577:T54A	ENSP00000405577:T54A	T	-	1	0	CLMP	122473739	1.000000	0.71417	0.996000	0.52242	0.858000	0.48976	2.210000	0.42816	2.161000	0.67846	0.379000	0.24179	ACC		0.493	CLMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387542.1	NM_024769		4	124	0	0	0	1	0	4	124					C	122968529	T	C	122968529	3	2	9	1	0	0	0	0	1	0	0	0	1009	1696	59	3	985	3	ASAM	11	122968529	Missense_Mutation	SNP	T	TCGA-BJ-A0ZC-01A-12D-A13W-08	77008689	122968529	12037987	11	312											
DDX51	317781	broad.mit.edu	37	chr12	132626093	132626093	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tggggtctggtcgatgtggtCcaccaggcggccgggggtgg	21	9	1	0			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr12:132626093C>G	ENST00000397333.3	-	7	1092	c.1054G>C	c.(1054-1056)Gac>Cac	p.D352H	NOC4L_ENST00000330579.1_5'Flank	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	352	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		TCGATGTGGTCCACCAGGCGG	0.647																																						ENST00000397333.3																			0				endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(1054-1056)Gac>Cac		DEAD (Asp-Glu-Ala-Asp) box polypeptide 51							39	51	47					12																	132626093		2019	4173	6192	SO:0001583	missense	317781				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:132626093C>G	BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"DEAD-boxes"	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.1054G>C	12.37:g.132626093C>G	ENSP00000380495:p.Asp352His						p.D352H	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)	7	1092	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	352			Helicase ATP-binding.		A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Missense_Mutation	SNP	ENST00000397333.3	37	c.1054G>C	CCDS41865.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.713240	0.89112	.	.	ENSG00000185163	ENST00000397333	T	0.06687	3.27	4.97	4.97	0.65823	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.27419	0.0673	M	0.67517	2.055	0.80722	D	1	D	0.65815	0.995	D	0.72625	0.978	T	0.00936	-1.1508	10	0.87932	D	0	-29.3003	15.7486	0.77967	0.0:1.0:0.0:0.0	.	352	Q8N8A6	DDX51_HUMAN	H	352	ENSP00000380495:D352H	ENSP00000380495:D352H	D	-	1	0	DDX51	131192046	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.133000	0.77259	2.312000	0.78011	0.591000	0.81541	GAC		0.647	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398978.1	NM_175066		3	38	0	0	0	1	0	3	38					G	132626093	C	G	132626093	3	3	9	1	0	0	0	0	1	0	0	0	4369	855	30	4	982	4	DDX51	12	132626093	Missense_Mutation	SNP	C	TCGA-BJ-A0ZC-01A-12D-A13W-08		132626093	1225802	12	313											
AP4S1	11154	broad.mit.edu	37	chr14	31553973	31553973	+	Intron	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgaattaaggtgttttttttAggaaccaattgatgaacttc	8	4	0	3			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr14:31553973A>T	ENST00000542754.2	+	5	699				AP4S1_ENST00000216366.4_Splice_Site|AP4S1_ENST00000554345.1_Splice_Site|AP4S1_ENST00000313566.6_Intron|AP4S1_ENST00000554609.1_Intron|AP4S1_ENST00000334725.4_Splice_Site	NM_001128126.2|NM_001254728.1	NP_001121598.1|NP_001241657.1	Q9Y587	AP4S1_HUMAN	adaptor-related protein complex 4, sigma 1 subunit							coated pit (GO:0005905)|Golgi apparatus (GO:0005794)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			lung(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.221)	GBM - Glioblastoma multiforme(265;0.00553)		TGTTTTTTTTAGGAACCAATT	0.413																																					Pancreas(128;620 2365 4508 44145)	ENST00000216366.4																			0				lung(1)	1						c.e6-1		adaptor-related protein complex 4, sigma 1 subunit							53	56	55					14																	31553973		2203	4300	6503	SO:0001627	intron_variant	11154					coated pit|Golgi apparatus	protein transporter activity	g.chr14:31553973A>T	AB030654	CCDS9642.1, CCDS45093.1, CCDS58309.1, CCDS58310.1	14q12	2012-06-29			ENSG00000100478	ENSG00000100478			575	protein-coding gene	gene with protein product		607243				10436028, 21620353	Standard	NM_007077		Approved	CLA20, AP47B, SPG52	uc001wqw.4	Q9Y587	OTTHUMG00000140202	ENST00000542754.2:c.306+4183A>T	14.37:g.31553973A>T						AP4S1_ENST00000554345.1_Splice_Site|AP4S1_ENST00000542754.2_Intron|AP4S1_ENST00000313566.6_Intron|AP4S1_ENST00000554609.1_Intron|AP4S1_ENST00000334725.4_Splice_Site		NM_007077.4	NP_009008.2	Q9Y587	AP4S1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.221)	GBM - Glioblastoma multiforme(265;0.00553)	6	574	+	Hepatocellular(127;0.0877)|Breast(36;0.176)							G3V2N8|Q6IAQ4|Q86U36|Q9BVE7	Splice_Site	SNP	ENST00000542754.2	37		CCDS45093.1	.	.	.	.	.	.	.	.	.	.	A	6.598	0.478645	0.12521	.	.	ENSG00000100478	ENST00000216366;ENST00000554345	.	.	.	3.62	1.07	0.20283	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.4195	0.21736	0.4226:0.0:0.0:0.5774	.	.	.	.	.	-1	.	.	.	+	.	.	AP4S1	30623724	0.225000	0.23685	0.000000	0.03702	0.008000	0.06430	0.169000	0.16641	0.200000	0.20447	0.459000	0.35465	.		0.413	AP4S1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409723.1			4	133	0	0	0	1	0	4	133					T	31553973	A	T	31553973	1	4	9	0	1	0	0	0	0	0	0	0	754	434	15	5		5	AP4S1	14	31553973	Intron	SNP	A	TCGA-BJ-A0ZC-01A-12D-A13W-08		31553973	75795567	13	314											
SMOC1	64093	broad.mit.edu	37	chr14	70477484	70477484	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgcagagaaagtctattcGtgtgaccaggagaggcagag	14	7	1	4	rs546621996		TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr14:70477484G>A	ENST00000381280.4	+	8	931	c.678G>A	c.(676-678)tcG>tcA	p.S226S	SMOC1_ENST00000361956.3_Silent_p.S226S	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	226	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		AAGTCTATTCGTGTGACCAGG	0.527													G|||	1	0.000199681	0	0	5008	,	,		20577	0		0	False		,,,				2504	0.001					ENST00000381280.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(676-678)tcG>tcA		SPARC related modular calcium binding 1							101	107	105					14																	70477484		2203	4300	6503	SO:0001819	synonymous_variant	64093				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	g.chr14:70477484G>A	AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.678G>A	14.37:g.70477484G>A						SMOC1_ENST00000361956.3_Silent_p.S226S	p.S226S	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN		all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)	8	931	+			226			Thyroglobulin type-1 2.		A8K1S3|B2R7P5|Q96F78	Silent	SNP	ENST00000381280.4	37	c.678G>A	CCDS9798.1																																																																																				0.527	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1			4	122	0	0	0	1	0	4	122					A	70477484	G	A	70477484	2	1	9	1	0	0	0	0	0	0	0	1	14801	1132	40	1		1	SMOC1	14	70477484	Silent	SNP	G	TCGA-BJ-A0ZC-01A-12D-A13W-08	38923511	70477484	36872056	14	315											
PIK3R5	23533	broad.mit.edu	37	chr17	8808196	8808196	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggtaggtgctggctgcctTcagaaggagatccgagtctg	16	8	2	2			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr17:8808196T>C	ENST00000447110.1	-	5	434	c.310A>G	c.(310-312)Aag>Gag	p.K104E	PIK3R5_ENST00000584803.1_Missense_Mutation_p.K104E|PIK3R5_ENST00000581552.1_Missense_Mutation_p.K104E	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	104					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CTGGCTGCCTTCAGAAGGAGA	0.552																																					NSCLC(18;589 615 7696 20311 50332)	ENST00000447110.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(310-312)Aag>Gag		phosphoinositide-3-kinase, regulatory subunit 5							122	107	112					17																	8808196		2203	4300	6503	SO:0001583	missense	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8808196T>C	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.310A>G	17.37:g.8808196T>C	ENSP00000392812:p.Lys104Glu					PIK3R5_ENST00000584803.1_Missense_Mutation_p.K104E|PIK3R5_ENST00000581552.1_Missense_Mutation_p.K104E	p.K104E	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN			5	434	-			104					B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	c.310A>G	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	T	12.65	2.001631	0.35320	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T;T	0.80994	-1.44;-1.44	4.75	2.26	0.28386	.	0.224065	0.46145	D	0.000315	T	0.64023	0.2561	N	0.12746	0.255	0.42617	D	0.993337	B	0.17852	0.024	B	0.25614	0.062	T	0.57260	-0.7842	10	0.39692	T	0.17	-9.421	9.9615	0.41699	0.0:0.0:0.3268:0.6732	.	104	Q8WYR1	PI3R5_HUMAN	E	104	ENSP00000269300:K104E;ENSP00000392812:K104E	ENSP00000269300:K104E	K	-	1	0	PIK3R5	8748921	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.691000	0.47010	0.746000	0.32786	0.524000	0.50904	AAG		0.552	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		27	50	0	0	0	1	0	27	50					C	8808196	T	C	8808196	3	2	9	1	0	0	0	0	1	0	0	0	11922	1792	62	3	2392	3	PIK3R5	17	8808196	Missense_Mutation	SNP	T	TCGA-BJ-A0ZC-01A-12D-A13W-08		8808196	72387014	15	316											
TBC1D16	125058	broad.mit.edu	37	chr17	77926612	77926612	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccggcgtcggagctggacGgggggctggtggaacaggtt	22	8	0	0	rs559517523		TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr17:77926612G>T	ENST00000310924.2	-	4	900	c.785C>A	c.(784-786)cCg>cAg	p.P262Q	TBC1D16_ENST00000576768.1_5'Flank|TBC1D16_ENST00000340848.7_5'Flank|TBC1D16_ENST00000572862.1_5'Flank|TBC1D16_ENST00000570373.1_5'Flank	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	262	Ser-rich.						Rab GTPase activator activity (GO:0005097)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GGAGCTGGACGGGGGGCTGGT	0.657																																					Ovarian(14;397 562 4850 31922 49378)	ENST00000310924.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28						c.(784-786)cCg>cAg		TBC1 domain family, member 16							25	29	27					17																	77926612		2197	4282	6479	SO:0001583	missense	125058					intracellular	Rab GTPase activator activity	g.chr17:77926612G>T	AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291			28356	protein-coding gene	gene with protein product						23019362	Standard	NM_019020		Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.785C>A	17.37:g.77926612G>T	ENSP00000309794:p.Pro262Gln						p.P262Q	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)		4	900	-	all_neural(118;0.167)		262			Ser-rich.		B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Missense_Mutation	SNP	ENST00000310924.2	37	c.785C>A	CCDS11766.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.335469	0.24253	.	.	ENSG00000167291	ENST00000310924	T	0.07567	3.18	5.3	5.3	0.74995	.	0.463064	0.21532	N	0.073035	T	0.10337	0.0253	L	0.44542	1.39	0.80722	D	1	P	0.39847	0.691	B	0.40741	0.339	T	0.13229	-1.0517	10	0.33940	T	0.23	-41.7925	13.3822	0.60773	0.0:0.1578:0.8422:0.0	.	262	Q8TBP0	TBC16_HUMAN	Q	262	ENSP00000309794:P262Q	ENSP00000309794:P262Q	P	-	2	0	TBC1D16	75541207	1.000000	0.71417	0.970000	0.41538	0.082000	0.17680	7.201000	0.77847	2.472000	0.83506	0.655000	0.94253	CCG		0.657	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437145.1	NM_019020		3	42	1	0	0.150653	1	0.172972	3	42					T	77926612	G	T	77926612	3	4	9	1	0	0	0	0	1	0	0	0	15602	1116	39	4	1554	4	TBC1D16	17	77926612	Missense_Mutation	SNP	G	TCGA-BJ-A0ZC-01A-12D-A13W-08	69118416	77926612	3268598	16	317											
HIF3A	64344	broad.mit.edu	37	chr19	46811989	46811989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcatgaagagtacactcaCcagccgcgggcgcaccctca	11	16	2	2			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr19:46811989C>T	ENST00000377670.4	+	5	549	c.518C>T	c.(517-519)aCc>aTc	p.T173I	HIF3A_ENST00000300862.3_Missense_Mutation_p.T171I|HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000600383.1_Missense_Mutation_p.T104I|HIF3A_ENST00000339613.2_Missense_Mutation_p.T117I|RNU6-924P_ENST00000362926.1_RNA|HIF3A_ENST00000420102.2_Missense_Mutation_p.T122I|HIF3A_ENST00000244303.6_Missense_Mutation_p.T104I|HIF3A_ENST00000472815.1_Missense_Mutation_p.T104I	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	173					cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		AGTACACTCACCAGCCGCGGG	0.716																																						ENST00000339613.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33						c.(349-351)aCc>aTc		hypoxia inducible factor 3, alpha subunit							19	17	18					19																	46811989		2198	4293	6491	SO:0001583	missense	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46811989C>T	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"Basic helix-loop-helix proteins"	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.518C>T	19.37:g.46811989C>T	ENSP00000366898:p.Thr173Ile					HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000420102.2_Missense_Mutation_p.T122I|HIF3A_ENST00000377670.4_Missense_Mutation_p.T173I|HIF3A_ENST00000300862.3_Missense_Mutation_p.T171I|HIF3A_ENST00000600383.1_Missense_Mutation_p.T104I|HIF3A_ENST00000244303.6_Missense_Mutation_p.T104I|HIF3A_ENST00000472815.1_Missense_Mutation_p.T104I	p.T117I			Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	5	605	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	173			PAS 1.		B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	ENST00000377670.4	37	c.350C>T	CCDS12681.2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153843	0.78114	.	.	ENSG00000124440	ENST00000475432;ENST00000244302;ENST00000377670;ENST00000457865;ENST00000414707;ENST00000244303;ENST00000339613;ENST00000457771;ENST00000291300;ENST00000300862;ENST00000420102	T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32	4.8	3.74	0.42951	.	0.206611	0.24554	N	0.037534	T	0.69305	0.3096	H	0.97158	3.95	0.58432	D	0.999999	D;D;P;D;P;P;D;D	0.69078	0.974;0.981;0.943;0.997;0.954;0.89;0.971;0.969	P;P;P;D;P;P;P;P	0.64042	0.875;0.522;0.629;0.921;0.828;0.745;0.812;0.536	T	0.80027	-0.1554	10	0.87932	D	0	.	13.0918	0.59171	0.0:0.837:0.1629:0.0	.	122;104;171;122;117;173;173;173	F5H884;B4DNA2;Q9Y2N7-2;B4DSD9;A8MPQ1;Q9Y2N7;B0M185;E7EWV6	.;.;.;.;.;HIF3A_HUMAN;.;.	I	173;173;173;87;173;104;117;104;117;171;122	ENSP00000366898:T173I;ENSP00000244303:T104I;ENSP00000341877:T117I;ENSP00000300862:T171I;ENSP00000407771:T122I	ENSP00000244302:T173I	T	+	2	0	HIF3A	51503829	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	4.661000	0.61518	1.134000	0.42165	0.561000	0.74099	ACC		0.716	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			5	5	0	0	0	1	0	5	5					T	46811989	C	T	46811989	3	4	9	1	0	0	0	0	1	0	0	0	7105	507	18	2	560	2	HIF3A	19	46811989	Missense_Mutation	SNP	C	TCGA-BJ-A0ZC-01A-12D-A13W-08		46811989	12316994	17	318											
FKRP	79147	broad.mit.edu	37	chr19	47259363	47259364	+	Frame_Shift_Ins	INS	-	-	C													cccctggcccggccggtgggINScaccagcctctttctgcaga							TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr19:47259363_47259364insC	ENST00000318584.5	+	4	953_954	c.656_657insC	c.(655-660)ggcaccfs	p.T220fs	FKRP_ENST00000600646.1_Intron|FKRP_ENST00000391909.3_Frame_Shift_Ins_p.T220fs	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	220					glycoprotein biosynthetic process (GO:0009101)|protein processing (GO:0016485)	dystrophin-associated glycoprotein complex (GO:0016010)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)	transferase activity (GO:0016740)			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		CGGCCGGTGGGCACCAGCCTCT	0.762																																						ENST00000318584.5																			0				NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(655-657)gacfs		fukutin related protein																																				SO:0001589	frameshift_variant	79147					extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity	g.chr19:47259363_47259364insC	AJ314847	CCDS12691.1	19q13.32	2014-09-17			ENSG00000181027	ENSG00000181027			17997	protein-coding gene	gene with protein product		606596				11592034, 11741828	Standard	NM_024301		Approved	LGMD2I, MDC1C	uc002pfp.2	Q9H9S5		ENST00000318584.5:c.657dupC	19.37:g.47259364_47259364dupC	ENSP00000326570:p.Thr220fs					FKRP_ENST00000391909.3_Frame_Shift_Ins_p.D219fs|FKRP_ENST00000600646.1_Intron	p.D219fs	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)	4	953_954	+		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	219					A8K5G7	Frame_Shift_Ins	INS	ENST00000318584.5	37	c.656_657insC	CCDS12691.1																																																																																				0.762	FKRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465473.1	NM_024301		2	4						2	4	---	---	---	---	C	47259364	-	C	47259363	7	5	9	1	0	1	1	0	0	0	0	0	5917	1203	42	0	658	0	FKRP	19	47259363	Frame_Shift_Ins	INS	-	TCGA-BJ-A0ZC-01A-12D-A13W-08	447374	47259363	11869620	18	319											
ISM1	140862	broad.mit.edu	37	chr20	13279730	13279730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggccgacatcttcgaccGcatcaagcgcaaggacttcc	9	16	2	0			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr20:13279730G>A	ENST00000262487.4	+	6	1025	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	340	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.					extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						ATCTTCGACCGCATCAAGCGC	0.592																																						ENST00000262487.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						c.(1018-1020)cGc>cAc		isthmin 1, angiogenesis inhibitor							47	52	51					20																	13279730		2132	4232	6364	SO:0001583	missense	140862					extracellular region		g.chr20:13279730G>A	AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"chromosome 20 open reading frame 82", "isthmin 1 homolog (zebrafish)"	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.1019G>A	20.37:g.13279730G>A	ENSP00000262487:p.Arg340His					TASP1_ENST00000539805.1_Intron	p.R340H	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN			6	1025	+			340			AMOP.		Q8WVH9	Missense_Mutation	SNP	ENST00000262487.4	37	c.1019G>A	CCDS46579.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062569	0.36373	.	.	ENSG00000101230	ENST00000262487;ENST00000447521	T;T	0.44881	0.91;0.92	5.88	2.59	0.31030	AMOP (3);	0.253966	0.46442	N	0.000295	T	0.26122	0.0637	N	0.14661	0.345	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.04467	-1.0949	10	0.51188	T	0.08	-24.9405	11.5915	0.50949	0.2088:0.0:0.7912:0.0	.	340	B1AKI9	ISM1_HUMAN	H	340;294	ENSP00000262487:R340H;ENSP00000409938:R294H	ENSP00000262487:R340H	R	+	2	0	ISM1	13227730	0.370000	0.25047	1.000000	0.80357	0.920000	0.55202	0.723000	0.25939	0.291000	0.22468	-0.137000	0.14449	CGC		0.592	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2			3	28	0	0	0	1	0	3	28					A	13279730	G	A	13279730	3	1	9	1	0	0	0	0	1	0	0	0	7860	1087	38	1	1041	1	ISM1	20	13279730	Missense_Mutation	SNP	G	TCGA-BJ-A0ZC-01A-12D-A13W-08		13279730	49745790	19	320											
ZHX3	23051	broad.mit.edu	37	chr20	39831621	39831621	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcattttggtttcacttcTcaggcggtccagttcctcat	9	11	4	0			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr20:39831621T>G	ENST00000309060.3	-	4	2351	c.1936A>C	c.(1936-1938)Aga>Cga	p.R646R	ZHX3_ENST00000544979.2_Silent_p.R646R|ZHX3_ENST00000540170.1_Silent_p.R646R|ZHX3_ENST00000559234.1_Silent_p.R646R|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000560361.1_Silent_p.R646R|ZHX3_ENST00000432768.2_Silent_p.R646R|ZHX3_ENST00000558993.1_Intron			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	646					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				GTTTCACTTCTCAGGCGGTCC	0.493																																						ENST00000309060.3																			0				endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(1936-1938)Aga>Cga		zinc fingers and homeoboxes 3							134	145	141					20																	39831621		2203	4300	6503	SO:0001819	synonymous_variant	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39831621T>G	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	15935	protein-coding gene	gene with protein product		609598	"triple homeobox 1"	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.1936A>C	20.37:g.39831621T>G						ZHX3_ENST00000559234.1_Silent_p.R646R|ZHX3_ENST00000544979.2_Silent_p.R646R|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000432768.2_Silent_p.R646R|ZHX3_ENST00000540170.1_Silent_p.R646R|ZHX3_ENST00000560361.1_Silent_p.R646R	p.R646R			Q9H4I2	ZHX3_HUMAN			4	2351	-		Myeloproliferative disorder(115;0.00425)	646					E1P5W5|F5H820|O43145|Q6NUJ7	Silent	SNP	ENST00000309060.3	37	c.1936A>C	CCDS13315.1	.	.	.	.	.	.	.	.	.	.	T	6.226	0.409839	0.11812	.	.	ENSG00000174306	ENST00000421422	.	.	.	6.06	2.31	0.28768	.	.	.	.	.	T	0.67059	0.2853	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64183	-0.6467	4	.	.	.	-22.8556	13.4542	0.61189	0.0:0.0:0.3719:0.6281	.	.	.	.	A	354	.	.	E	-	2	0	ZHX3	39265035	0.994000	0.37717	0.999000	0.59377	0.994000	0.84299	0.918000	0.28678	0.493000	0.27837	0.528000	0.53228	GAG		0.493	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		6	254	0	0	0	1	0	6	254					G	39831621	T	G	39831621	2	3	9	1	0	0	0	0	0	0	0	1	17674	1559	54	5		5	ZHX3	20	39831621	Silent	SNP	T	TCGA-BJ-A0ZC-01A-12D-A13W-08	26551891	39831621	23193899	20	321											
ST13	6767	broad.mit.edu	37	chr22	41231580	41231580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacctgtgtgctttcccccGccacttgtaaggctgagctg	10	13	0	1			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr22:41231580G>A	ENST00000216218.3	-	7	1043	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W		NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	188					chaperone cofactor-dependent protein refolding (GO:0070389)|negative regulation of protein refolding (GO:0061084)|protein folding (GO:0006457)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	dATP binding (GO:0032564)|protein binding, bridging (GO:0030674)			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						GCTTTCCCCCGCCACTTGTAA	0.358																																						ENST00000216218.3																			0				cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						c.(562-564)Cgg>Tgg		suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)							110	121	118					22																	41231580		2192	4287	6479	SO:0001583	missense	6767						protein binding, bridging	g.chr22:41231580G>A		CCDS14006.1	22q13.2	2013-01-10	2001-11-29		ENSG00000100380	ENSG00000100380		"Tetratricopeptide (TTC) repeat domain containing"	11343	protein-coding gene	gene with protein product	"progesterone receptor-associated p48 protein"	606796	"suppression of tumorigenicity 13 (colon carcinoma) (Hsp70-interacting protein)"			9925927, 8721986	Standard	NM_003932		Approved	SNC6, HSPABP1, HIP, P48, FAM10A1	uc003aze.3	P50502	OTTHUMG00000151201	ENST00000216218.3:c.562C>T	22.37:g.41231580G>A	ENSP00000216218:p.Arg188Trp						p.R188W	NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN			7	1043	-			188					O14999|Q2TU77	Missense_Mutation	SNP	ENST00000216218.3	37	c.562C>T	CCDS14006.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.379480	0.61845	.	.	ENSG00000100380	ENST00000216218;ENST00000401032;ENST00000411695	D;T	0.89810	-2.57;1.3	5.66	0.912	0.19349	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.096480	0.64402	D	0.000001	D	0.96839	0.8968	H	0.99130	4.44	0.51767	D	0.999936	D;D	0.89917	1.0;1.0	D;D	0.87578	0.983;0.998	D	0.97786	1.0235	10	0.87932	D	0	.	16.7645	0.85521	0.0:0.0:0.3075:0.6925	.	178;188	B4E0U6;P50502	.;F10A1_HUMAN	W	188;188;151	ENSP00000216218:R188W;ENSP00000392067:R151W	ENSP00000216218:R188W	R	-	1	2	ST13	39561526	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	2.002000	0.40835	0.008000	0.14787	-0.284000	0.09977	CGG		0.358	ST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321759.1	NM_003932		6	328	0	0	0	1	0	6	328					A	41231580	G	A	41231580	3	1	9	1	0	0	0	0	1	0	0	0	15209	1086	38	1	571	1	ST13	22	41231580	Missense_Mutation	SNP	G	TCGA-BJ-A0ZC-01A-12D-A13W-08		41231580	10072986	21	322											
DMD	1756	broad.mit.edu	37	chrX	31854884	31854884	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgtacaaatgctgccctttaGacaaaatctcttccacatcc	4	13	1	1	rs185706283		TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chrX:31854884G>A	ENST00000357033.4	-	49	7357	c.7151C>T	c.(7150-7152)tCt>tTt	p.S2384F	DMD_ENST00000378677.2_Missense_Mutation_p.S2380F|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378707.3_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2384					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTGCCCTTTAGACAAAATCTC	0.408																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(7150-7152)tCt>tTt		dystrophin							214	178	190					X																	31854884		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31854884G>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.7151C>T	X.37:g.31854884G>A	ENSP00000354923:p.Ser2384Phe					DMD_ENST00000378677.2_Missense_Mutation_p.S2380F|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378707.3_5'UTR	p.S2384F	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			49	7357	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2384					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.7151C>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.197687	0.58126	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T;T	0.36520	1.25;1.25;1.25	5.63	5.63	0.86233	.	0.000000	0.34777	U	0.003682	T	0.50599	0.1625	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D	0.69078	0.997;0.995;0.995;0.976;0.976	D;D;D;P;P	0.80764	0.994;0.986;0.986;0.549;0.447	T	0.51545	-0.8692	10	0.62326	D	0.03	.	16.847	0.85983	0.0:0.0:1.0:0.0	.	2376;2384;2380;1043;1040	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	F	2376;1043;1040;80;2380;2384;2384;2261	ENSP00000350765:S80F;ENSP00000367948:S2380F;ENSP00000354923:S2384F	ENSP00000354923:S2384F	S	-	2	0	DMD	31764805	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	6.780000	0.75063	2.355000	0.79922	0.415000	0.27848	TCT		0.408	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		5	98	0	0	0	1	0	5	98					A	31854884	G	A	31854884	3	1	9	1	0	0	0	0	1	0	0	0	4580	942	33	2	4178	2	DMD	23	31854884	Missense_Mutation	SNP	G	TCGA-BJ-A0ZC-01A-12D-A13W-08		31854884	123415676	22	323											
SCN9A	6335	broad.mit.edu	37	chr2	167055182	167055182	+	Nonstop_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aatatatcaaaaatgaagctCtattttttgctttccttgct	4	7	2	1			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr2:167055182C>G	ENST00000409435.1	-	26	5966	c.5967G>C	c.(5965-5967)taG>taC	p.*1989Y	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Nonstop_Mutation_p.*1990Y|SCN9A_ENST00000303354.6_Nonstop_Mutation_p.*1990Y|SCN9A_ENST00000409672.1_Nonstop_Mutation_p.*1978Y			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	0					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAATGAAGCTCTATTTTTTGC	0.318																																						ENST00000375387.4																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(5968-5970)taG>taC		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						103	93	97					2																	167055182		1858	4096	5954	SO:0001578	stop_lost	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167055182C>G	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5967G>C	2.37:g.167055182C>G						AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Nonstop_Mutation_p.*1978Y|SCN9A_ENST00000409435.1_Nonstop_Mutation_p.*1989Y|SCN9A_ENST00000303354.6_Nonstop_Mutation_p.*1990Y	p.*1990Y			Q15858	SCN9A_HUMAN			27	6310	-			0					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Nonstop_Mutation	SNP	ENST00000409435.1	37	c.5970G>C	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.269100	0.40095	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	.	.	.	5.86	3.78	0.43462	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.3472	0.04274	0.2234:0.4215:0.0:0.3551	.	.	.	.	Y	1978;1990;1990;1989	.	.	X	-	3	2	SCN9A	166763428	0.000000	0.05858	0.979000	0.43373	0.354000	0.29330	-0.570000	0.05895	1.420000	0.47138	0.591000	0.81541	TAG		0.318	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		11	17	0	0	0	0.069234	0	11	17					G	167055182	C	G	167055182	4	3	10	1	0	0	0	0	0	0	0	0	13925	924	32	4	3	4	SCN9A	2	167055182	Nonstop_Mutation	SNP	C	TCGA-BJ-A0ZE-01A-11D-A10S-08		167055182	76144191	1	324											
COL3A1	1281	broad.mit.edu	37	chr2	189853339	189853339	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctccaggataccaaggaccCcctggtgaacctgggcaagc	11	14	1	1			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr2:189853339C>A	ENST00000304636.3	+	7	776	c.606C>A	c.(604-606)ccC>ccA	p.P202P	COL3A1_ENST00000317840.5_Silent_p.P202P	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	202	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	ACCAAGGACCCCCTGGTGAAC	0.328																																						ENST00000304636.3																			0				NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(604-606)ccC>ccA		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						34	39	37					2																	189853339		2201	4296	6497	SO:0001819	synonymous_variant	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189853339C>A	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"Collagens"	2201	protein-coding gene	gene with protein product		120180	"Ehlers-Danlos syndrome type IV, autosomal dominant"	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.606C>A	2.37:g.189853339C>A						COL3A1_ENST00000317840.5_Silent_p.P202P	p.P202P	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		7	776	+			202			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Silent	SNP	ENST00000304636.3	37	c.606C>A	CCDS2297.1																																																																																				0.328	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		3	84	1	0	0.150653	0.150653	0.155361	3	84					A	189853339	C	A	189853339	2	1	10	1	0	0	0	0	0	0	0	1	3688	610	22	4		4	COL3A1	2	189853339	Silent	SNP	C	TCGA-BJ-A0ZE-01A-11D-A10S-08	22798157	189853339	53346034	2	325											
MITF	4286	broad.mit.edu	37	chr3	69987187	69987187	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgcttacgcttaactccaActgtgaaaaagaggtaattc	7	8	0	2			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr3:69987187A>G	ENST00000448226.2	+	3	696	c.569A>G	c.(568-570)aAc>aGc	p.N190S	MITF_ENST00000314557.6_Missense_Mutation_p.N83S|MITF_ENST00000394348.1_3'UTR|MITF_ENST00000394351.3_Missense_Mutation_p.N83S|MITF_ENST00000472437.1_Missense_Mutation_p.N138S|MITF_ENST00000352241.4_Missense_Mutation_p.N190S|MITF_ENST00000328528.6_Missense_Mutation_p.N189S|MITF_ENST00000314589.5_Missense_Mutation_p.N174S|MITF_ENST00000531774.1_Intron|MITF_ENST00000394355.2_Missense_Mutation_p.N165S			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	190					bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	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 positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CTTAACTCCAACTGTGAAAAA	0.488			A		melanoma		"Waardenburg syndrome type 2, Tietz syndrome"																														Melanoma(29;269 969 31479 41502 42961)	ENST00000352241.4				Dom	yes		3	3p14.1	4286	A	microphthalmia-associated transcription factor	yes	"Waardenburg syndrome type 2, Tietz syndrome"	E			melanoma		0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30						c.(568-570)aAc>aGc		microphthalmia-associated transcription factor							76	66	69					3																	69987187		2203	4300	6503	SO:0001583	missense	4286				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr3:69987187A>G		CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"Basic helix-loop-helix proteins"	7105	protein-coding gene	gene with protein product	"homolog of mouse microphthalmia"	156845	"Waardenburg syndrome, type 2A"	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.569A>G	3.37:g.69987187A>G	ENSP00000391803:p.Asn190Ser					MITF_ENST00000448226.2_Missense_Mutation_p.N190S|MITF_ENST00000394348.1_3'UTR|MITF_ENST00000394355.2_Missense_Mutation_p.N165S|MITF_ENST00000472437.1_Missense_Mutation_p.N138S|MITF_ENST00000394351.3_Missense_Mutation_p.N83S|MITF_ENST00000531774.1_Intron|MITF_ENST00000314589.5_Missense_Mutation_p.N174S|MITF_ENST00000314557.6_Missense_Mutation_p.N83S|MITF_ENST00000328528.6_Missense_Mutation_p.N189S	p.N190S	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)	3	732	+		Lung NSC(201;0.0384)|Prostate(884;0.0526)	190					B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Missense_Mutation	SNP	ENST00000448226.2	37	c.569A>G		.	.	.	.	.	.	.	.	.	.	A	9.900	1.206637	0.22205	.	.	ENSG00000187098	ENST00000352241;ENST00000448226;ENST00000472437;ENST00000328528;ENST00000451708;ENST00000314589;ENST00000394355;ENST00000314557;ENST00000394351	T;T;T;T;T;T;T;T;T	0.25085	2.67;2.2;2.46;2.65;1.85;2.64;2.66;2.41;1.82	5.43	4.24	0.50183	.	0.275563	0.45606	D	0.000344	T	0.20170	0.0485	L	0.38531	1.155	0.51767	D	0.999938	B;B;B;B;B;B;B	0.33940	0.047;0.078;0.078;0.194;0.194;0.198;0.433	B;B;B;B;B;B;B	0.34418	0.049;0.106;0.106;0.172;0.172;0.172;0.182	T	0.03103	-1.1072	9	.	.	.	.	11.2501	0.49020	0.7074:0.2926:0.0:0.0	.	138;83;83;165;174;189;190	E9PFN0;O75030-9;O75030-10;O75030-4;O75030-8;O75030-6;O75030-2	.;.;.;.;.;.;.	S	190;190;138;189;174;174;165;83;83	ENSP00000295600:N190S;ENSP00000391803:N190S;ENSP00000418845:N138S;ENSP00000327867:N189S;ENSP00000398639:N174S;ENSP00000324443:N174S;ENSP00000377884:N165S;ENSP00000324246:N83S;ENSP00000377880:N83S	.	N	+	2	0	MITF	70069877	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.986000	0.70563	0.844000	0.35094	0.533000	0.62120	AAC		0.488	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	NM_198159		41	70	0	0	0	0.086207	0	41	70					G	69987187	A	G	69987187	3	3	10	1	0	0	0	0	1	0	0	0	9596	43	2	3	781	3	MITF	3	69987187	Missense_Mutation	SNP	A	TCGA-BJ-A0ZE-01A-11D-A10S-08		69987187	128035243	3	326											
MFAP3L	9848	broad.mit.edu	37	chr4	170913279	170913279	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaccatgacgatggtgaaGgccaccaggcacacgaccat	12	12	0	2			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr4:170913279G>A	ENST00000361618.3	-	3	787	c.480C>T	c.(478-480)gcC>gcT	p.A160A	RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Silent_p.A57A	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		CGATGGTGAAGGCCACCAGGC	0.512																																						ENST00000361618.3																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(478-480)gcC>gcT		microfibrillar-associated protein 3-like							142	127	132					4																	170913279		2203	4300	6503	SO:0001819	synonymous_variant	9848					integral to membrane|plasma membrane		g.chr4:170913279G>A	AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948		"Immunoglobulin superfamily / I-set domain containing"	29083	protein-coding gene	gene with protein product						9734811	Standard	XM_005263366		Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.480C>T	4.37:g.170913279G>A						RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Silent_p.A57A	p.A160A	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)	3	787	-		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)	160					A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Silent	SNP	ENST00000361618.3	37	c.480C>T	CCDS34103.1																																																																																				0.512	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363043.2	NM_021647		7	159	0	0	0	0.038147	0	7	159					A	170913279	G	A	170913279	2	1	10	1	0	0	0	0	0	0	0	1	9516	987	35	2		2	MFAP3L	4	170913279	Silent	SNP	G	TCGA-BJ-A0ZE-01A-11D-A10S-08		170913279	20240997	4	327											
ABCF1	23	broad.mit.edu	37	chr6	30553911	30553911	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tttttcctcttcctctccagGaaaaacaaacgaaggaagcc	6	12	2	0			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr6:30553911G>C	ENST00000326195.8	+	18	1826	c.1714G>C	c.(1714-1716)Gaa>Caa	p.E572Q	ABCF1_ENST00000396515.4_Intron|MIR877_ENST00000401282.1_RNA|ABCF1_ENST00000376545.3_Splice_Site_p.E534Q	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	572					inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						TCCTCTCCAGGAAAAACAAAC	0.552																																						ENST00000326195.8																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						c.e18-1		ATP-binding cassette, sub-family F (GCN20), member 1							39	43	42					6																	30553911		2202	4298	6500	SO:0001630	splice_region_variant	23				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding	g.chr6:30553911G>C	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"ATP binding cassette transporters / subfamily F"	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.1714-1G>C	6.37:g.30553911G>C						ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Splice_Site_p.E534_splice	p.E572_splice	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN			18	1826	+			572					A2BF75|O14897|Q69YP6	Splice_Site	SNP	ENST00000326195.8	37	c.1713_splice	CCDS34380.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964376	0.53507	.	.	ENSG00000204574	ENST00000326195;ENST00000376545	T;T	0.40225	1.55;1.04	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.45856	0.1363	M	0.82193	2.58	0.80722	D	1	P;P	0.42871	0.792;0.624	P;B	0.46419	0.516;0.3	T	0.51911	-0.8645	9	.	.	.	-12.3944	16.3085	0.82859	0.0:0.0:1.0:0.0	.	534;572	Q2L6I2;Q8NE71	.;ABCF1_HUMAN	Q	572;534	ENSP00000313603:E572Q;ENSP00000365728:E534Q	.	E	+	1	0	ABCF1	30661890	1.000000	0.71417	1.000000	0.80357	0.470000	0.32858	7.995000	0.88328	2.385000	0.81259	0.555000	0.69702	GAA		0.552	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3		Missense_Mutation	29	40	0	0	0	0.108266	0	29	40					C	30553911	G	C	30553911	5	2	10	1	0	0	0	0	0	0	1	0	65	1188	41	4	1784	4	ABCF1	6	30553911	Splice_Site	SNP	G	TCGA-BJ-A0ZE-01A-11D-A10S-08		30553911	140561156	5	328											
HLA-DMA	3108	broad.mit.edu	37	chr6	32917464	32917464	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgtcagaaggttctggtgtGaagtttaagtaagaaaaggc	13	3	2	3			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr6:32917464G>A	ENST00000374843.4	-	3	661	c.576C>T	c.(574-576)ttC>ttT	p.F192F	HLA-DMA_ENST00000395303.3_Silent_p.F158F|XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000395305.3_Silent_p.F97F|HLA-DMA_ENST00000464392.1_5'UTR	NM_006120.3	NP_006111.2	P28067	DMA_HUMAN	major histocompatibility complex, class II, DM alpha	192	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|chaperone mediated protein folding requiring cofactor (GO:0051085)|immunoglobulin mediated immune response (GO:0016064)|inner ear development (GO:0048839)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of immune response (GO:0050778)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein transport (GO:0015031)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)	MHC class II protein complex binding (GO:0023026)			kidney(1)|large_intestine(2)|lung(8)	11						GTTCTGGTGTGAAGTTTAAGT	0.478																																						ENST00000374843.4																			0				kidney(1)|large_intestine(2)|lung(8)	11						c.(574-576)ttC>ttT		major histocompatibility complex, class II, DM alpha							77	74	75					6																	32917464		1510	2709	4219	SO:0001819	synonymous_variant	3108					integral to membrane|MHC class II protein complex		g.chr6:32917464G>A		CCDS4761.1	6p21.3	2013-01-11			ENSG00000204257	ENSG00000204257		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4934	protein-coding gene	gene with protein product		142855				1922385	Standard	NM_006120		Approved	D6S222E, RING6	uc003ocm.2	P28067	OTTHUMG00000031173	ENST00000374843.4:c.576C>T	6.37:g.32917464G>A						HLA-DMA_ENST00000395303.3_Silent_p.F158F|HLA-DMA_ENST00000395305.3_Silent_p.F97F|HLA-DMA_ENST00000464392.1_5'UTR|XXbac-BPG181M17.5_ENST00000429234.1_Intron	p.F192F	NM_006120.3	NP_006111.2	Q31604	Q31604_HUMAN			3	661	-			192					Q29639|Q29640	Silent	SNP	ENST00000374843.4	37	c.576C>T	CCDS4761.1																																																																																				0.478	HLA-DMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076325.2	NM_006120		4	102	0	0	0	0.150653	0	4	102					A	32917464	G	A	32917464	2	1	10	1	0	0	0	0	0	0	0	1	7198	1281	45	2		2	HLA-DMA	6	32917464	Silent	SNP	G	TCGA-BJ-A0ZE-01A-11D-A10S-08	2363553	32917464	138197603	6	329											
TEX15	56154	broad.mit.edu	37	chr8	30695491	30695491	+	Frame_Shift_Del	DEL	T	T	-													gtgatctttgcatttcaaccTtttttggcgttaaatgattt					rs571456178		TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr8:30695491delT	ENST00000256246.2	-	3	7234	c.7160delA	c.(7159-7161)aagfs	p.K2387fs		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2387					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CATTTCAACCTTTTTTGGCGT	0.388																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(7159-7161)agfs		testis expressed 15							183	183	183					8																	30695491		2203	4300	6503	SO:0001589	frameshift_variant	56154							g.chr8:30695491delT	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7160delA	8.37:g.30695491delT	ENSP00000256246:p.Lys2387fs						p.K2387fs	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	3	7234	-			2387						Frame_Shift_Del	DEL	ENST00000256246.2	37	c.7160delA	CCDS6080.1																																																																																				0.388	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			7	323						7	323	---	---	---	---	-	30695491	T	-	30695491	7	5	10	1	0	1	0	1	0	0	0	0	15776	1609	56	0	1217	0	TEX15	8	30695491	Frame_Shift_Del	DEL	T	TCGA-BJ-A0ZE-01A-11D-A10S-08		30695491	115668531	7	330											
SLA	6503	broad.mit.edu	37	chr8	134050906	134050906	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacaggtaagaggcaatgcTctctcgaaggccatagctga	13	9	1	2			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr8:134050906T>G	ENST00000338087.5	-	9	1513	c.694A>C	c.(694-696)Agc>Cgc	p.S232R	TG_ENST00000377869.1_Intron|TG_ENST00000519543.1_Intron|TG_ENST00000220616.4_Intron|SLA_ENST00000517648.1_Missense_Mutation_p.S205R|SLA_ENST00000395352.3_Missense_Mutation_p.S249R|SLA_ENST00000524345.1_Missense_Mutation_p.S124R|SLA_ENST00000427060.2_Missense_Mutation_p.S272R|TG_ENST00000542445.1_Intron	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	232	SLA C-terminal.				positive regulation of signal transduction (GO:0009967)	endosome (GO:0005768)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			GAGGCAATGCTCTCTCGAAGG	0.532																																						ENST00000338087.5																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17						c.(694-696)Agc>Cgc		Src-like-adaptor							158	136	144					8																	134050906		2203	4300	6503	SO:0001583	missense	6503					endosome	SH3/SH2 adaptor activity	g.chr8:134050906T>G		CCDS6370.1, CCDS47922.1, CCDS47923.1, CCDS64977.1, CCDS64978.1	8q24.22	2013-09-19	2001-11-28		ENSG00000155926	ENSG00000155926		"SH2 domain containing"	10902	protein-coding gene	gene with protein product		601099	"Src-like-adapter"			8825655, 11179692	Standard	NM_001045556		Approved	SLA1	uc011ljd.2	Q13239	OTTHUMG00000164439	ENST00000338087.5:c.694A>C	8.37:g.134050906T>G	ENSP00000337548:p.Ser232Arg					SLA_ENST00000517648.1_Missense_Mutation_p.S205R|TG_ENST00000220616.4_Intron|TG_ENST00000542445.1_Intron|TG_ENST00000377869.1_Intron|SLA_ENST00000427060.2_Missense_Mutation_p.S272R|TG_ENST00000519543.1_Intron|SLA_ENST00000395352.3_Missense_Mutation_p.S249R|SLA_ENST00000524345.1_Missense_Mutation_p.S124R	p.S232R	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)		9	1513	-	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	232			SLA C-terminal.		B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8	Missense_Mutation	SNP	ENST00000338087.5	37	c.694A>C	CCDS6370.1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.047933	0.93740	.	.	ENSG00000155926	ENST00000338087;ENST00000427060;ENST00000395352;ENST00000524345;ENST00000517648	D;D;D;T;T	0.82344	-1.6;-1.59;-1.58;0.68;1.79	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.90669	0.7073	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.91640	0.5326	10	0.87932	D	0	-38.6487	15.2091	0.73206	0.0:0.0:0.0:1.0	.	205;232;232;232	B7Z4J2;Q6FI01;Q5TZW1;Q13239	.;.;.;SLAP1_HUMAN	R	232;272;249;124;205	ENSP00000337548:S232R;ENSP00000394049:S272R;ENSP00000378759:S249R;ENSP00000427928:S124R;ENSP00000428559:S205R	ENSP00000337548:S232R	S	-	1	0	SLA	134120088	1.000000	0.71417	0.996000	0.52242	0.917000	0.54804	6.310000	0.72830	2.263000	0.75096	0.533000	0.62120	AGC		0.532	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378771.1			7	99	0	0	0	0.139131	0	7	99					G	134050906	T	G	134050906	3	3	10	1	0	0	0	0	1	0	0	0	14363	1551	54	5	140	5	SLA	8	134050906	Missense_Mutation	SNP	T	TCGA-BJ-A0ZE-01A-11D-A10S-08	103355415	134050906	12313116	8	331											
GPT	2875	broad.mit.edu	37	chr8	145731945	145731945	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcaccgagcaggtcttcaAtgaggctcctggcatcagct	11	13	4	1	rs200853809		TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr8:145731945A>G	ENST00000528431.1	+	10	1350	c.1193A>G	c.(1192-1194)aAt>aGt	p.N398S	GPT_ENST00000394955.2_Missense_Mutation_p.N398S|MFSD3_ENST00000301327.4_5'Flank			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	398					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(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)		L-Alanine(DB00160)|Phenelzine(DB00780)	CAGGTCTTCAATGAGGCTCCT	0.692													A|||	1	0.000199681	8e-04	0	5008	,	,		12082	0		0	False		,,,				2504	0					ENST00000394955.2																			0				central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5						c.(1192-1194)aAt>aGt		glutamic-pyruvate transaminase (alanine aminotransferase)	L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	A	SER/ASN	0,4290		0,0,2145	17	11	13		1193	2.0	0.1	8		13	1,8419		0,1,4209	no	missense	GPT	NM_005309.2	46	0,1,6354	GG,GA,AA		0.0119,0.0,0.0079	benign	398/497	145731945	1,12709	2145	4210	6355	SO:0001583	missense	2875				gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr8:145731945A>G		CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2.6.1.2		4552	protein-coding gene	gene with protein product		138200					Standard	NM_005309		Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	ENST00000528431.1:c.1193A>G	8.37:g.145731945A>G	ENSP00000433586:p.Asn398Ser					GPT_ENST00000528431.1_Missense_Mutation_p.N398S	p.N398S	NM_005309.2	NP_005300.1	P24298	ALAT1_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)		9	1416	+	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)		398					B0YJ18|D3DWM7|P78398|Q93076	Missense_Mutation	SNP	ENST00000528431.1	37	c.1193A>G	CCDS6430.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	11.45	1.643798	0.29246	0.0	1.19E-4	ENSG00000167701	ENST00000528431;ENST00000394955	D;D	0.90444	-2.67;-2.67	4.54	2.02	0.26589	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.88016	0.6324	M	0.77616	2.38	0.51767	D	0.999937	B	0.09022	0.002	B	0.16289	0.015	T	0.80339	-0.1424	10	0.49607	T	0.09	-6.8781	6.062	0.19842	0.7283:0.1785:0.0932:0.0	.	398	P24298	ALAT1_HUMAN	S	398	ENSP00000433586:N398S;ENSP00000378408:N398S	ENSP00000378408:N398S	N	+	2	0	GPT	145702753	0.584000	0.26766	0.120000	0.21714	0.573000	0.36030	1.417000	0.34770	0.095000	0.17434	-0.411000	0.06167	AAT		0.692	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382471.1			5	9	0	0	0	0.02938	0	5	9					G	145731945	A	G	145731945	3	3	10	1	0	0	0	0	1	0	0	0	6737	101	4	3	1227	3	GPT	8	145731945	Missense_Mutation	SNP	A	TCGA-BJ-A0ZE-01A-11D-A10S-08	11681039	145731945	632077	9	332											
PTGES	9536	broad.mit.edu	37	chr9	132511009	132511009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagggcatcctcggggttgGcaaaggcctgaaatatacca	12	10	1	1			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr9:132511009G>A	ENST00000340607.4	-	2	168	c.134C>T	c.(133-135)gCc>gTc	p.A45V	PTGES_ENST00000481476.1_5'UTR	NM_004878.4	NP_004869.1	O14684	PTGES_HUMAN	prostaglandin E synthase	45					acute inflammatory response (GO:0002526)|arachidonic acid metabolic process (GO:0019369)|chronic inflammatory response (GO:0002544)|cyclooxygenase pathway (GO:0019371)|negative regulation of cell proliferation (GO:0008285)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|response to calcium ion (GO:0051592)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to organic cyclic compound (GO:0014070)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)	glutathione binding (GO:0043295)|prostaglandin-E synthase activity (GO:0050220)			lung(1)|skin(1)	2		Ovarian(14;0.00556)				CTCGGGGTTGGCAAAGGCCTG	0.592																																						ENST00000340607.4																			0				lung(1)|skin(1)	2						c.(133-135)gCc>gTc		prostaglandin E synthase							49	40	43					9																	132511009		2203	4300	6503	SO:0001583	missense	9536				prostaglandin biosynthetic process|signal transduction	integral to membrane|membrane fraction	glutathione binding|prostaglandin-E synthase activity	g.chr9:132511009G>A	AF010316	CCDS6927.1	9q34.3	2008-07-21			ENSG00000148344	ENSG00000148344			9599	protein-coding gene	gene with protein product	"microsomal glutathione S-transferase 1-like 1", "tumor protein p53 inducible protein 12", "p53-induced gene 12", "microsomal prostaglandin E synthase-1", "glutathione S-transferase 1-like 1", "MGST1-like 1"	605172		MGST1L1		9305847, 10091672	Standard	NM_004878		Approved	MGST-IV, PIG12, MGST1-L1, TP53I12	uc004byi.3	O14684	OTTHUMG00000020791	ENST00000340607.4:c.134C>T	9.37:g.132511009G>A	ENSP00000342385:p.Ala45Val					PTGES_ENST00000481476.1_5'UTR	p.A45V	NM_004878.4	NP_004869.1	O14684	PTGES_HUMAN			2	168	-		Ovarian(14;0.00556)	45					O14900|Q5SZC0	Missense_Mutation	SNP	ENST00000340607.4	37	c.134C>T	CCDS6927.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.156301	0.78114	.	.	ENSG00000148344	ENST00000340607	T	0.58652	0.32	6.08	6.08	0.98989	Membrane associated eicosanoid/glutathione metabolism-like domain (1);	0.050231	0.85682	D	0.000000	T	0.74861	0.3772	M	0.64404	1.975	0.80722	D	1	D	0.71674	0.998	D	0.69654	0.965	T	0.75004	-0.3470	10	0.87932	D	0	-23.388	19.6516	0.95815	0.0:0.0:1.0:0.0	.	45	O14684	PTGES_HUMAN	V	45	ENSP00000342385:A45V	ENSP00000342385:A45V	A	-	2	0	PTGES	131550830	1.000000	0.71417	1.000000	0.80357	0.129000	0.20672	9.110000	0.94302	2.894000	0.99253	0.655000	0.94253	GCC		0.592	PTGES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054599.2	NM_004878		3	51	0	0	0	0.115264	0	3	51					A	132511009	G	A	132511009	3	1	10	1	0	0	0	0	1	0	0	0	12746	1203	42	2	332	2	PTGES	9	132511009	Missense_Mutation	SNP	G	TCGA-BJ-A0ZE-01A-11D-A10S-08		132511009	8702422	10	333											
ADM	133	broad.mit.edu	37	chr11	10327267	10327267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgaagctggtttccgtcgCcctgatgtacctgggttcgc	13	11	0	2			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr11:10327267C>T	ENST00000528655.1	+	1	637	c.20C>T	c.(19-21)gCc>gTc	p.A7V	ADM_ENST00000528544.1_Missense_Mutation_p.A7V|ADM_ENST00000524948.1_Missense_Mutation_p.A7V|ADM_ENST00000525063.1_Missense_Mutation_p.A7V|ADM_ENST00000278175.5_Missense_Mutation_p.A7V|ADM_ENST00000530439.1_5'UTR|ADM_ENST00000526492.1_Missense_Mutation_p.A7V|ADM_ENST00000534464.1_5'UTR|RP11-351I24.1_ENST00000526906.1_RNA			P35318	ADML_HUMAN	adrenomedullin	7					aging (GO:0007568)|androgen metabolic process (GO:0008209)|blood circulation (GO:0008015)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cAMP biosynthetic process (GO:0006171)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|developmental growth (GO:0048589)|female pregnancy (GO:0007565)|G-protein coupled receptor internalization (GO:0002031)|heart development (GO:0007507)|hormone secretion (GO:0046879)|negative regulation of cell proliferation (GO:0008285)|negative regulation of vascular permeability (GO:0043116)|negative regulation of vasoconstriction (GO:0045906)|neural tube closure (GO:0001843)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of heart rate (GO:0010460)|positive regulation of vasculogenesis (GO:2001214)|positive regulation of vasodilation (GO:0045909)|progesterone biosynthetic process (GO:0006701)|receptor internalization (GO:0031623)|regulation of the force of heart contraction (GO:0002026)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|spongiotrophoblast layer development (GO:0060712)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor binding (GO:0005102)			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		GTTTCCGTCGCCCTGATGTAC	0.642																																						ENST00000528655.1																			0				central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6						c.(19-21)gCc>gTc		adrenomedullin							90	83	85					11																	10327267		2201	4294	6495	SO:0001583	missense	133				blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity	g.chr11:10327267C>T	D14874	CCDS7801.1	11p15.4	2013-02-25			ENSG00000148926	ENSG00000148926		"Endogenous ligands"	259	protein-coding gene	gene with protein product		103275				7688224	Standard	NM_001124		Approved	AM	uc001mil.1	P35318	OTTHUMG00000165907	ENST00000528655.1:c.20C>T	11.37:g.10327267C>T	ENSP00000436607:p.Ala7Val					ADM_ENST00000526492.1_Missense_Mutation_p.A7V|ADM_ENST00000534464.1_5'UTR|ADM_ENST00000278175.5_Missense_Mutation_p.A7V|ADM_ENST00000528544.1_Missense_Mutation_p.A7V|ADM_ENST00000524948.1_Missense_Mutation_p.A7V|ADM_ENST00000530439.1_5'UTR|ADM_ENST00000525063.1_Missense_Mutation_p.A7V	p.A7V			P35318	ADML_HUMAN		all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)	1	637	+			7					B2R793|D3DQV3|Q6FGW2	Missense_Mutation	SNP	ENST00000528655.1	37	c.20C>T	CCDS7801.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424423	0.62733	.	.	ENSG00000148926	ENST00000278175;ENST00000524948;ENST00000528655;ENST00000526492;ENST00000525063;ENST00000528544	T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89	4.84	3.93	0.45458	.	0.524000	0.23261	N	0.050137	T	0.24084	0.0583	L	0.46157	1.445	0.30002	N	0.815911	B	0.25772	0.134	B	0.27262	0.078	T	0.16928	-1.0386	10	0.56958	D	0.05	-11.4712	10.8424	0.46724	0.0:0.9122:0.0:0.0878	.	7	P35318	ADML_HUMAN	V	7	ENSP00000278175:A7V;ENSP00000433062:A7V;ENSP00000436607:A7V;ENSP00000434354:A7V;ENSP00000435124:A7V;ENSP00000434749:A7V	ENSP00000278175:A7V	A	+	2	0	ADM	10283843	1.000000	0.71417	0.972000	0.41901	0.900000	0.52787	2.684000	0.46951	1.262000	0.44165	0.561000	0.74099	GCC		0.642	ADM-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387008.1	NM_001124		43	56	0	0	0	0.11126	0	43	56					T	10327267	C	T	10327267	3	4	10	1	0	0	0	0	1	0	0	0	321	739	26	2	22	2	ADM	11	10327267	Missense_Mutation	SNP	C	TCGA-BJ-A0ZE-01A-11D-A10S-08		10327267	124679249	11	334											
MEN1	4221	broad.mit.edu	37	chr11	64575515	64575515	+	Frame_Shift_Del	DEL	G	G	-													gtggacatcccggagacccaGggcctggcaggccccaacca							TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr11:64575515delG	ENST00000337652.1	-	3	1020	c.517delC	c.(517-519)ctgfs	p.L173fs	MEN1_ENST00000443283.1_Frame_Shift_Del_p.L173fs|MEN1_ENST00000377321.1_Frame_Shift_Del_p.L168fs|MEN1_ENST00000377326.3_Frame_Shift_Del_p.L168fs|MEN1_ENST00000377313.1_Frame_Shift_Del_p.L173fs|MEN1_ENST00000377316.2_Frame_Shift_Del_p.L168fs|MEN1_ENST00000312049.6_Frame_Shift_Del_p.L168fs|MEN1_ENST00000394374.2_Frame_Shift_Del_p.L173fs|MEN1_ENST00000394376.1_Frame_Shift_Del_p.L173fs|MEN1_ENST00000478548.1_5'Flank|MEN1_ENST00000315422.4_Frame_Shift_Del_p.L168fs	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	173			L -> P (in MEN1). {ECO:0000269|PubMed:9820618}.|Missing (in MEN1). {ECO:0000269|PubMed:9747036}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|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 activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.A167fs*10(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CGGAGACCCAGGGCCTGGCAG	0.602			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	ENST00000337652.1			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	"D, Mis, N, F, S"	multiple endocrine neoplasia type 1 gene			E		"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"	"parathyroid tumors, Pancreatic neuroendocrine tumors"		1	Deletion - Frameshift(1)	p.A167fs*10(1)	parathyroid(1)	NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						c.(517-519)tgfs		multiple endocrine neoplasia I							41	41	41					11																	64575515		2201	4297	6498	SO:0001589	frameshift_variant	0	Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64575515delG	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"menin"	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.517delC	11.37:g.64575515delG	ENSP00000337088:p.Leu173fs					MEN1_ENST00000312049.6_Frame_Shift_Del_p.L168fs|MEN1_ENST00000394374.2_Frame_Shift_Del_p.L173fs|MEN1_ENST00000377326.3_Frame_Shift_Del_p.L168fs|MEN1_ENST00000377316.2_Frame_Shift_Del_p.L168fs|MEN1_ENST00000377321.1_Frame_Shift_Del_p.L168fs|MEN1_ENST00000315422.4_Frame_Shift_Del_p.L168fs|MEN1_ENST00000443283.1_Frame_Shift_Del_p.L173fs|MEN1_ENST00000377313.1_Frame_Shift_Del_p.L173fs|MEN1_ENST00000394376.1_Frame_Shift_Del_p.L173fs	p.L173fs	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN			3	1020	-			173		L -> P (in MEN1).|Missing (in MEN1).			A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Frame_Shift_Del	DEL	ENST00000337652.1	37	c.517delC	CCDS8083.1																																																																																				0.602	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			21	41						21	41	---	---	---	---	-	64575515	G	-	64575515	7	5	10	1	0	1	0	1	0	0	0	0	9472	991	35	0	1362	0	MEN1	11	64575515	Frame_Shift_Del	DEL	G	TCGA-BJ-A0ZE-01A-11D-A10S-08	54248248	64575515	70431001	12	335											
ANKRD42	338699	broad.mit.edu	37	chr11	82959006	82959006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatcaaagaactgcagggCcagctggagtatgaacgact	11	10	1	2			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr11:82959006C>T	ENST00000393392.2	+	10	1295	c.1133C>T	c.(1132-1134)gCc>gTc	p.A378V	ANKRD42_ENST00000528190.1_3'UTR|ANKRD42_ENST00000533342.1_Silent_p.G448G|ANKRD42_ENST00000260047.6_Silent_p.G447G|ANKRD42_ENST00000531895.1_Silent_p.G448G	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	378					positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						AACTGCAGGGCCAGCTGGAGT	0.343																																						ENST00000393392.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.(1132-1134)gCc>gTc		ankyrin repeat domain 42							81	82	82					11																	82959006		2203	4300	6503	SO:0001583	missense	338699							g.chr11:82959006C>T	AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"Ankyrin repeat domain containing"	26752	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 79"						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000393392.2:c.1133C>T	11.37:g.82959006C>T	ENSP00000377051:p.Ala378Val					ANKRD42_ENST00000528190.1_3'UTR|ANKRD42_ENST00000533342.1_Silent_p.G448G|ANKRD42_ENST00000531895.1_Silent_p.G448G|ANKRD42_ENST00000260047.6_Silent_p.G447G	p.A378V	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN			10	1295	+			378					Q49A49	Missense_Mutation	SNP	ENST00000393392.2	37	c.1133C>T	CCDS8265.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.419860	0.42918	.	.	ENSG00000137494	ENST00000393392	T	0.67345	-0.26	5.46	1.35	0.21983	.	4.375660	0.00166	N	0.000014	T	0.46833	0.1413	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.23013	-1.0200	9	.	.	.	-0.0387	7.4647	0.27314	0.0:0.614:0.2357:0.1503	.	378	Q8N9B4	ANR42_HUMAN	V	378	ENSP00000377051:A378V	.	A	+	2	0	ANKRD42	82636654	0.792000	0.28813	0.270000	0.24601	0.955000	0.61496	1.232000	0.32636	0.056000	0.16144	0.561000	0.74099	GCC		0.343	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000392934.1	NM_182603		3	38	0	0	0	0.150653	0	3	38					T	82959006	C	T	82959006	3	4	10	1	0	0	0	0	1	0	0	0	670	739	26	2	1171	2	ANKRD42	11	82959006	Missense_Mutation	SNP	C	TCGA-BJ-A0ZE-01A-11D-A10S-08	18383491	82959006	52047510	13	336											
MLL	4297	broad.mit.edu	37	chr11	118343146	118343146	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcgcggatcattaagacCcctcggcggtttatagagga	11	11	1	2			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr11:118343146C>T	ENST00000389506.5	+	3	1272	c.1272C>T	c.(1270-1272)acC>acT	p.T424T	KMT2A_ENST00000354520.4_Silent_p.T424T|KMT2A_ENST00000534358.1_Silent_p.T424T			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	424					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TCATTAAGACCCCTCGGCGGT	0.473																																						ENST00000534358.1																			0											c.(1270-1272)acC>acT		lysine (K)-specific methyltransferase 2A							99	108	105					11																	118343146		2200	4296	6496	SO:0001819	synonymous_variant	4297							g.chr11:118343146C>T	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.1272C>T	11.37:g.118343146C>T						KMT2A_ENST00000389506.5_Silent_p.T424T|KMT2A_ENST00000354520.4_Silent_p.T424T	p.T424T	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					3	1295	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	c.1272C>T	CCDS31686.1																																																																																				0.473	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		4	193	0	0	0	0.014758	0	4	193					T	118343146	C	T	118343146	2	4	10	1	0	0	0	0	0	0	0	1	9620	610	22	2		2	MLL	11	118343146	Silent	SNP	C	TCGA-BJ-A0ZE-01A-11D-A10S-08	35384140	118343146	16663370	14	337											
KRAS	3845	broad.mit.edu	37	chr12	25380276	25380276	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcattgcactgtactcctctTgacctgctgtgtcgagaata	8	11	2	2	rs121913240		TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr12:25380276T>C	ENST00000256078.4	-	3	245	c.182A>G	c.(181-183)cAa>cGa	p.Q61R	KRAS_ENST00000311936.3_Missense_Mutation_p.Q61R|KRAS_ENST00000557334.1_Intron|AC087239.1_ENST00000594112.1_5'Flank	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16533793, ECO:0000269|Ref.7}.|Q -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61L(73)|p.Q61R(56)|p.Q61P(12)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GTACTCCTCTTGACCTGCTGT	0.418	Q61L(NCIH650_LUNG)|Q61L(SW948_LARGE_INTESTINE)|Q61R(PANC0213_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	Q61L(NCIH650_LUNG)|Q61L(SW948_LARGE_INTESTINE)|Q61R(PANC0213_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	141	Substitution - Missense(141)	p.Q61L(73)|p.Q61R(56)|p.Q61P(12)	large_intestine(63)|lung(27)|thyroid(14)|haematopoietic_and_lymphoid_tissue(9)|pancreas(6)|skin(5)|stomach(3)|cervix(3)|upper_aerodigestive_tract(2)|soft_tissue(1)|central_nervous_system(1)|biliary_tract(1)|endometrium(1)|urinary_tract(1)|gastrointestinal_tract_(site_indeterminate)(1)|breast(1)|prostate(1)|kidney(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(181-183)cAa>cGa		Kirsten rat sarcoma viral oncogene homolog							109	97	101					12																	25380276		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25380276T>C	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.182A>G	12.37:g.25380276T>C	ENSP00000256078:p.Gln61Arg	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.Q61R|KRAS_ENST00000557334.1_Intron	p.Q61R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		3	373	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		61		Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.182A>G	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.022613	0.75275	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.83673	-1.75;-1.75	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.88358	0.6415	M	0.92367	3.3	0.80722	D	1	B;B	0.26744	0.158;0.026	B;B	0.32805	0.135;0.153	D	0.87885	0.2680	10	0.66056	D	0.02	.	15.5753	0.76373	0.0:0.0:0.0:1.0	.	61;61	P01116-2;P01116	.;RASK_HUMAN	R	61	ENSP00000308495:Q61R;ENSP00000256078:Q61R	ENSP00000256078:Q61R	Q	-	2	0	KRAS	25271543	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.983000	0.88140	2.326000	0.78906	0.533000	0.62120	CAA		0.418	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		34	76	0	0	0	0.074837	0	34	76					C	25380276	T	C	25380276	3	2	10	1	0	0	0	0	1	0	0	0	8438	1812	63	3	520	3	KRAS	12	25380276	Missense_Mutation	SNP	T	TCGA-BJ-A0ZE-01A-11D-A10S-08		25380276	108471619	15	338											
SPATS2	65244	broad.mit.edu	37	chr12	49890689	49890689	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactctattcacaattctcaAcaacccaggaatgctgccaa	4	14	3	0			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr12:49890689A>G	ENST00000553127.1	+	9	1113	c.600A>G	c.(598-600)caA>caG	p.Q200Q	SPATS2_ENST00000321898.6_Silent_p.Q200Q|SPATS2_ENST00000552918.1_Silent_p.Q200Q|SPATS2_ENST00000552557.1_3'UTR			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	200						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						ACAATTCTCAACAACCCAGGA	0.438																																						ENST00000553127.1																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						c.(598-600)caA>caG		spermatogenesis associated, serine-rich 2							130	120	124					12																	49890689		2203	4300	6503	SO:0001819	synonymous_variant	65244					cytoplasm		g.chr12:49890689A>G	AK023179	CCDS31794.1	12q13.12	2009-06-12							18650	protein-coding gene	gene with protein product		611667				11944913, 17989879	Standard	NM_023071		Approved	SPATA10, SCR59, FLJ13117	uc001rud.2	Q86XZ4		ENST00000553127.1:c.600A>G	12.37:g.49890689A>G						SPATS2_ENST00000321898.6_Silent_p.Q200Q|SPATS2_ENST00000552918.1_Silent_p.Q200Q|SPATS2_ENST00000552557.1_3'UTR	p.Q200Q			Q86XZ4	SPAS2_HUMAN			9	1113	+			200					A8K8G9|Q9H7D4|Q9H8Y7|Q9H8Z8	Silent	SNP	ENST00000553127.1	37	c.600A>G	CCDS31794.1																																																																																				0.438	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404023.1	NM_023071		69	94	0	0	0	0.139131	0	69	94					G	49890689	A	G	49890689	2	3	10	1	0	0	0	0	0	0	0	1	15018	40	2	3		3	SPATS2	12	49890689	Silent	SNP	A	TCGA-BJ-A0ZE-01A-11D-A10S-08	24510413	49890689	83961206	16	339											
ATP2A2	488	broad.mit.edu	37	chr12	110771021	110771021	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accagtgaattgtcaccagtAtgatggtctggtagaattag	11	6	2	3			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr12:110771021A>G	ENST00000539276.2	+	10	1329	c.1220A>G	c.(1219-1221)tAt>tGt	p.Y407C	ATP2A2_ENST00000308664.6_Missense_Mutation_p.Y407C|ATP2A2_ENST00000395494.2_Missense_Mutation_p.Y380C			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	407					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TGTCACCAGTATGATGGTCTG	0.423																																						ENST00000395494.2																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38	GRCh37	CD991621	ATP2A2	D		c.(1138-1140)tAt>tGt		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2							241	222	228					12																	110771021		2203	4300	6503	SO:0001583	missense	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110771021A>G		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"ATPases / P-type"	812	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 2", "calcium pump 2"	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.1220A>G	12.37:g.110771021A>G	ENSP00000440045:p.Tyr407Cys					ATP2A2_ENST00000308664.6_Missense_Mutation_p.Y407C|ATP2A2_ENST00000539276.2_Missense_Mutation_p.Y407C	p.Y380C			P16615	AT2A2_HUMAN			9	1702	+			407			Interacts with phospholamban 1 (By similarity).		A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	ENST00000539276.2	37	c.1139A>G	CCDS9144.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.057843	0.76074	.	.	ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276	D;D;D	0.82803	-1.65;-1.65;-1.65	5.98	5.98	0.97165	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);ATPase, P-type, cytoplasmic domain N (1);	0.394769	0.31450	N	0.007631	D	0.87577	0.6212	M	0.66506	2.035	0.53005	D	0.999963	D;D;D	0.56521	0.97;0.97;0.976	P;P;P	0.54856	0.649;0.649;0.762	D	0.87013	0.2124	10	0.40728	T	0.16	.	16.4696	0.84102	1.0:0.0:0.0:0.0	.	380;407;407	P16615-4;P16615-2;P16615	.;.;AT2A2_HUMAN	C	407;380;407	ENSP00000311186:Y407C;ENSP00000378872:Y380C;ENSP00000440045:Y407C	ENSP00000311186:Y407C	Y	+	2	0	ATP2A2	109255404	1.000000	0.71417	0.993000	0.49108	0.899000	0.52679	6.164000	0.71885	2.289000	0.77006	0.482000	0.46254	TAT		0.423	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		81	126	0	0	0	0.139131	0	81	126					G	110771021	A	G	110771021	3	3	10	1	0	0	0	0	1	0	0	0	1137	449	16	3	1258	3	ATP2A2	12	110771021	Missense_Mutation	SNP	A	TCGA-BJ-A0ZE-01A-11D-A10S-08	60880332	110771021	23080874	17	340											
RPUSD1	113000	broad.mit.edu	37	chr16	837367	837367	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttaccaatgccaggtaaGccttggtcacgcgccgctcc	10	15	2	0			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr16:837367G>A	ENST00000561734.1	-	2	536	c.293C>T	c.(292-294)gCt>gTt	p.A98V	RPUSD1_ENST00000565809.1_Missense_Mutation_p.A98V|RPUSD1_ENST00000007264.2_Missense_Mutation_p.A98V|RPUSD1_ENST00000567114.1_5'UTR|CHTF18_ENST00000317063.6_5'Flank|CHTF18_ENST00000455171.2_5'Flank|CHTF18_ENST00000262315.9_5'Flank			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	98					pseudouridine synthesis (GO:0001522)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				TGCCAGGTAAGCCTTGGTCAC	0.657																																						ENST00000561734.1																			0				endometrium(3)|lung(2)|skin(2)	7						c.(292-294)gCt>gTt		RNA pseudouridylate synthase domain containing 1							25	22	23					16																	837367		2175	4286	6461	SO:0001583	missense	113000				pseudouridine synthesis		pseudouridine synthase activity|RNA binding	g.chr16:837367G>A	AE006465	CCDS10426.1	16p13.3	2013-02-11	2005-01-31	2005-01-31	ENSG00000007376	ENSG00000007376		"RNA pseudouridylate synthase domain containing"	14173	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 40"	C16orf40			Standard	NM_058192		Approved	RLUCL, MGC19600	uc002ckb.3	Q9UJJ7	OTTHUMG00000047840	ENST00000561734.1:c.293C>T	16.37:g.837367G>A	ENSP00000455026:p.Ala98Val					RPUSD1_ENST00000007264.2_Missense_Mutation_p.A98V|RPUSD1_ENST00000567114.1_5'UTR|RPUSD1_ENST00000565809.1_Missense_Mutation_p.A98V	p.A98V			Q9UJJ7	RUSD1_HUMAN			2	536	-		Hepatocellular(780;0.00335)	98					D3DU66	Missense_Mutation	SNP	ENST00000561734.1	37	c.293C>T	CCDS10426.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.086312	0.36855	.	.	ENSG00000007376	ENST00000007264	T	0.13420	2.59	4.38	3.43	0.39272	Pseudouridine synthase, RsuA and RluB/C/D/E/F (1);Pseudouridine synthase, catalytic domain (1);	0.053327	0.85682	N	0.000000	T	0.10121	0.0248	N	0.13098	0.295	0.80722	D	1	P	0.45986	0.87	P	0.45753	0.492	T	0.22452	-1.0216	10	0.32370	T	0.25	-10.0552	11.006	0.47635	0.0927:0.0:0.9073:0.0	.	98	Q9UJJ7	RUSD1_HUMAN	V	98	ENSP00000007264:A98V	ENSP00000007264:A98V	A	-	2	0	RPUSD1	777368	1.000000	0.71417	0.964000	0.40570	0.910000	0.53928	6.426000	0.73374	1.073000	0.40885	0.542000	0.68232	GCT		0.657	RPUSD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420620.1	NM_058192		8	14	0	0	0	0.047766	0	8	14					A	837367	G	A	837367	3	1	10	1	0	0	0	0	1	0	0	0	13666	971	34	2	661	2	RPUSD1	16	837367	Missense_Mutation	SNP	G	TCGA-BJ-A0ZE-01A-11D-A10S-08		837367	89517386	18	341											
KIAA0895L	653319	broad.mit.edu	37	chr16	67213988	67213988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgcagtacttttccagcaCagccgtgggcatgggctcct	11	14	0	0			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr16:67213988C>T	ENST00000290881.7	-	3	1452	c.526G>A	c.(526-528)Gtg>Atg	p.V176M	KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.V176M|KIAA0895L_ENST00000563902.1_Missense_Mutation_p.V176M			Q68EN5	K895L_HUMAN	KIAA0895-like	176								p.V176L(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						TTTTCCAGCACAGCCGTGGGC	0.582																																						ENST00000290881.7																			1	Substitution - Missense(1)	p.V176L(1)	endometrium(1)	breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						c.(526-528)Gtg>Atg		KIAA0895-like							97	102	100					16																	67213988		2011	4176	6187	SO:0001583	missense	653319							g.chr16:67213988C>T	AK092303	CCDS42177.1	16q22.1	2008-11-27				ENSG00000196123			34408	protein-coding gene	gene with protein product							Standard	NM_001040715		Approved	LOC653319	uc002ert.3	Q68EN5		ENST00000290881.7:c.526G>A	16.37:g.67213988C>T	ENSP00000290881:p.Val176Met					KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000563902.1_Missense_Mutation_p.V176M|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.V176M	p.V176M			Q68EN5	K895L_HUMAN			3	1452	-			176					A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Missense_Mutation	SNP	ENST00000290881.7	37	c.526G>A	CCDS42177.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.628718	0.87560	.	.	ENSG00000196123	ENST00000290881	.	.	.	4.92	4.92	0.64577	.	0.120392	0.56097	D	0.000038	T	0.75547	0.3864	M	0.64567	1.98	0.80722	D	1	D;D	0.89917	1.0;0.971	D;P	0.72338	0.977;0.812	T	0.74847	-0.3525	9	0.41790	T	0.15	-25.3349	15.6593	0.77169	0.0:1.0:0.0:0.0	.	176;176	Q68EN5-2;Q68EN5	.;K895L_HUMAN	M	176	.	ENSP00000290881:V176M	V	-	1	0	KIAA0895L	65771489	1.000000	0.71417	0.971000	0.41717	0.892000	0.51952	6.957000	0.76019	2.544000	0.85801	0.555000	0.69702	GTG		0.582	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421193.4	NM_001040715		36	88	0	0	0	0.064281	0	36	88					T	67213988	C	T	67213988	3	4	10	1	0	0	0	0	1	0	0	0	8198	478	17	2	913	2	KIAA0895L	16	67213988	Missense_Mutation	SNP	C	TCGA-BJ-A0ZE-01A-11D-A10S-08	66376621	67213988	23140765	19	342											
ADAMTS18	170692	broad.mit.edu	37	chr16	77354989	77354989	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctcaccatttgctttatgCtggttgaggtacaggccttt	9	10	1	1			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr16:77354989C>T	ENST00000282849.5	-	15	2692	c.2274G>A	c.(2272-2274)caG>caA	p.Q758Q		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	758	Spacer.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTGCTTTATGCTGGTTGAGGT	0.403																																						ENST00000282849.5																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(2272-2274)caG>caA		ADAM metallopeptidase with thrombospondin type 1 motif, 18							127	125	126					16																	77354989		2198	4300	6498	SO:0001819	synonymous_variant	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77354989C>T	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2274G>A	16.37:g.77354989C>T							p.Q758Q	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			15	2692	-			758			Spacer.		Q6P4R5|Q6ZWJ9	Silent	SNP	ENST00000282849.5	37	c.2274G>A	CCDS10926.1																																																																																				0.403	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			5	203	0	0	0	0.014758	0	5	203					T	77354989	C	T	77354989	2	4	10	1	0	0	0	0	0	0	0	1	263	796	28	2		2	ADAMTS18	16	77354989	Silent	SNP	C	TCGA-BJ-A0ZE-01A-11D-A10S-08	10141001	77354989	12999764	20	343											
APOBEC3G	60489	broad.mit.edu	37	chr22	39475061	39475061	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaagggtccctcaaggcccCctttggacgcaaagatcttt	9	13	2	1			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr22:39475061C>A	ENST00000407997.3	+	2	499	c.142C>A	c.(142-144)Cct>Act	p.P48T	APOBEC3G_ENST00000461827.1_3'UTR|APOBEC3G_ENST00000452957.2_Missense_Mutation_p.P48T	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	48	Essential for cytoplasmic localization.				base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					CTCAAGGCCCCCTTTGGACGC	0.507																																						ENST00000407997.3																			0				central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12						c.(142-144)Cct>Act		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G							73	65	68					22																	39475061		2203	4300	6503	SO:0001583	missense	60489							g.chr22:39475061C>A	AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713		"Apolipoprotein B mRNA editing enzymes"	17357	protein-coding gene	gene with protein product		607113				11863358	Standard	NM_021822		Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.142C>A	22.37:g.39475061C>A	ENSP00000385057:p.Pro48Thr					APOBEC3G_ENST00000452957.2_Missense_Mutation_p.P48T|APOBEC3G_ENST00000461827.1_3'UTR	p.P48T	NM_021822.3	NP_068594.1					2	499	+	Melanoma(58;0.04)							B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Missense_Mutation	SNP	ENST00000407997.3	37	c.142C>A	CCDS13984.1	.	.	.	.	.	.	.	.	.	.	.	0.507	-0.868181	0.02590	.	.	ENSG00000239713	ENST00000452957;ENST00000407997	T;T	0.62941	-0.01;-0.01	1.54	-3.08	0.05347	APOBEC-like, N-terminal (1);	.	.	.	.	T	0.39091	0.1065	N	0.17800	0.525	0.09310	N	1	B	0.19817	0.039	B	0.20955	0.032	T	0.20638	-1.0269	9	0.18710	T	0.47	.	6.5472	0.22412	0.0:0.3312:0.0:0.6688	.	48	Q9HC16	ABC3G_HUMAN	T	48	ENSP00000413376:P48T;ENSP00000385057:P48T	ENSP00000385057:P48T	P	+	1	0	APOBEC3G	37805007	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.329000	0.07935	-1.166000	0.02783	-0.291000	0.09656	CCT		0.507	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321219.1	NM_021822		3	51	1	0	0.00909568	0.150653	0.0096825	3	51					A	39475061	C	A	39475061	3	1	10	1	0	0	0	0	1	0	0	0	794	623	22	4	148	4	APOBEC3G	22	39475061	Missense_Mutation	SNP	C	TCGA-BJ-A0ZE-01A-11D-A10S-08		39475061	11829505	21	344											
ABCB7	22	broad.mit.edu	37	chrX	74332769	74332769	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcctgcatgaccatgccaAcatgtcctcttttctatcag	5	15	3	1			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chrX:74332769A>G	ENST00000373394.3	-	3	292	c.285T>C	c.(283-285)tgT>tgC	p.C95C	ABCB7_ENST00000339447.4_Silent_p.C95C|ABCB7_ENST00000253577.3_Silent_p.C96C			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	95					cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						GACCATGCCAACATGTCCTCT	0.438																																						ENST00000253577.3																			0				breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						c.(286-288)tgT>tgC		ATP-binding cassette, sub-family B (MDR/TAP), member 7							206	157	173					X																	74332769		2203	4300	6503	SO:0001819	synonymous_variant	22				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	g.chrX:74332769A>G	AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"ATP binding cassette transporters / subfamily B"	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.285T>C	X.37:g.74332769A>G						ABCB7_ENST00000373394.3_Silent_p.C95C|ABCB7_ENST00000339447.4_Silent_p.C95C	p.C96C	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN			3	312	-			95					G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Silent	SNP	ENST00000373394.3	37	c.288T>C																																																																																					0.438	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299		9	244	0	0	0	0.069234	0	9	244					G	74332769	A	G	74332769	2	3	10	1	0	0	0	0	0	0	0	1	46	41	2	3		3	ABCB7	23	74332769	Silent	SNP	A	TCGA-BJ-A0ZE-01A-11D-A10S-08		74332769	80937791	22	345											
CSMD2	114784	broad.mit.edu	37	chr1	34089026	34089026	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	caccatcaaatacttccagcGagtcccagttctgctctgtc	6	15	3	0			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr1:34089026G>T	ENST00000373380.1	-	15	2505	c.2285C>A	c.(2284-2286)tCg>tAg	p.S762*	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373377.1_5'UTR|CSMD2_ENST00000373381.4_Nonsense_Mutation_p.S1889*			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1849	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TACTTCCAGCGAGTCCCAGTT	0.502																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(5665-5667)tCg>tAg		CUB and Sushi multiple domains 2							124	108	114					1																	34089026		2203	4300	6503	SO:0001587	stop_gained	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34089026G>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.2285C>A	1.37:g.34089026G>T	ENSP00000362478:p.Ser762*					CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373377.1_5'UTR|CSMD2_ENST00000373380.1_Nonsense_Mutation_p.S762*	p.S1889*	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			36	5842	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1849			CUB 11.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Nonsense_Mutation	SNP	ENST00000373380.1	37	c.5666C>A		.	.	.	.	.	.	.	.	.	.	G	49	15.042838	0.99820	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.3798	0.90446	0.0:0.0:1.0:0.0	.	.	.	.	X	1889;762	.	ENSP00000241312:S1849X	S	-	2	0	CSMD2	33861613	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	9.405000	0.97313	2.687000	0.91594	0.561000	0.74099	TCG		0.502	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		50	82	1	0	2.73381e-35	0.00361	3.74413e-35	50	82					T	34089026	G	T	34089026	4	4	11	1	0	0	0	0	0	1	0	0	3945	1059	37	4	5053	4	CSMD2	1	34089026	Nonsense_Mutation	SNP	G	TCGA-BJ-A0ZF-01A-11D-A10S-08		34089026	215161595	1	346											
DIO1	1733	broad.mit.edu	37	chr1	54360073	54360073	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccacgacaactggataccaAcctttttcagcacccagtat	6	14	1	0			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr1:54360073A>G	ENST00000361921.3	+	1	214	c.190A>G	c.(190-192)Acc>Gcc	p.T64A	DIO1_ENST00000388876.3_Missense_Mutation_p.T64A|DIO1_ENST00000532493.1_Missense_Mutation_p.T64A|DIO1_ENST00000525202.1_Intron|DIO1_ENST00000524406.1_Intron|DIO1_ENST00000322679.6_Missense_Mutation_p.T64A|DIO1_ENST00000534069.1_3'UTR	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	64					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						CTGGATACCAACCTTTTTCAG	0.547																																						ENST00000361921.3																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						c.(190-192)Acc>Gcc		deiodinase, iodothyronine, type I							165	131	142					1																	54360073		2203	4300	6503	SO:0001583	missense	1733				hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity	g.chr1:54360073A>G		CCDS30722.1, CCDS41339.1, CCDS41340.1, CCDS53320.1	1p33-p32	2012-03-01			ENSG00000211452	ENSG00000211452	1.97.1.10		2883	protein-coding gene	gene with protein product		147892		TXDI1		8964838	Standard	NM_000792		Approved		uc001cwb.3	P49895	OTTHUMG00000008435	ENST00000361921.3:c.190A>G	1.37:g.54360073A>G	ENSP00000354643:p.Thr64Ala					DIO1_ENST00000388876.3_Missense_Mutation_p.T64A|DIO1_ENST00000322679.6_Missense_Mutation_p.T64A|DIO1_ENST00000525202.1_Intron|DIO1_ENST00000524406.1_Intron|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000532493.1_Missense_Mutation_p.T64A	p.T64A	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN			1	214	+			64					Q1RN02|Q3KNP8|Q6Q4C1|Q6Q4C2|Q6Q4C3|Q6Q4C4|Q6Q4C5|Q6Q4C6|Q6Q4C7|Q6Q4C9|Q8WWC6	Missense_Mutation	SNP	ENST00000361921.3	37	c.190A>G	CCDS41339.1	.	.	.	.	.	.	.	.	.	.	A	19.42	3.823536	0.71143	.	.	ENSG00000211452	ENST00000529589;ENST00000361921;ENST00000322679;ENST00000532493;ENST00000388876	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	4.93	4.93	0.64822	.	0.060237	0.64402	D	0.000002	T	0.54287	0.1849	M	0.75615	2.305	0.40192	D	0.977411	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.83275	0.994;0.996;0.994	T	0.57602	-0.7783	10	0.46703	T	0.11	.	13.3044	0.60345	1.0:0.0:0.0:0.0	.	64;64;64	P49895-5;P49895;P49895-4	.;IOD1_HUMAN;.	A	21;64;64;64;64	ENSP00000432797:T21A;ENSP00000354643:T64A;ENSP00000323198:T64A;ENSP00000434758:T64A;ENSP00000373528:T64A	ENSP00000323198:T64A	T	+	1	0	DIO1	54132661	0.985000	0.35326	0.842000	0.33263	0.722000	0.41435	5.280000	0.65603	2.072000	0.62099	0.533000	0.62120	ACC		0.547	DIO1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000023247.3			69	139	0	0	0	0.00361	0	69	139					G	54360073	A	G	54360073	3	3	11	1	0	0	0	0	1	0	0	0	4524	43	2	3	192	3	DIO1	1	54360073	Missense_Mutation	SNP	A	TCGA-BJ-A0ZF-01A-11D-A10S-08	20271047	54360073	194890548	2	347											
DNAH1	25981	broad.mit.edu	37	chr3	52388985	52388985	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctggacgaccacatcgtcAtgacccagaatatgtcattt	8	11	2	2	rs371532292		TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr3:52388985A>G	ENST00000420323.2	+	21	3868	c.3607A>G	c.(3607-3609)Atg>Gtg	p.M1203V		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1203	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCACATCGTCATGACCCAGAA	0.557																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(3607-3609)Atg>Gtg		dynein, axonemal, heavy chain 1		A	VAL/MET	0,4164		0,0,2082	123	126	125		3607	4.1	1.0	3		125	1,8419		0,1,4209	no	missense	DNAH1	NM_015512.4	21	0,1,6291	GG,GA,AA		0.0119,0.0,0.0079	benign	1203/4266	52388985	1,12583	2082	4210	6292	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52388985A>G	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.3607A>G	3.37:g.52388985A>G	ENSP00000401514:p.Met1203Val						p.M1203V	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	21	3868	+			1203			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.3607A>G	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	A	15.02	2.707974	0.48412	0.0	1.19E-4	ENSG00000114841	ENST00000420323	T	0.59906	0.23	5.29	4.1	0.47936	.	0.000000	0.64402	D	0.000012	T	0.47544	0.1451	L	0.41415	1.275	0.41188	D	0.986286	B	0.24258	0.1	B	0.25405	0.06	T	0.34378	-0.9831	10	0.28530	T	0.3	.	12.0899	0.53719	0.7293:0.2707:0.0:0.0	.	1203	C9JXH6	.	V	1203	ENSP00000401514:M1203V	ENSP00000401514:M1203V	M	+	1	0	DNAH1	52364025	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.118000	0.64673	0.830000	0.34757	0.379000	0.24179	ATG		0.557	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		33	68	0	0	0	0.003755	0	33	68					G	52388985	A	G	52388985	3	3	11	1	0	0	0	0	1	0	0	0	4597	217	8	3	3685	3	DNAH1	3	52388985	Missense_Mutation	SNP	A	TCGA-BJ-A0ZF-01A-11D-A10S-08		52388985	145633445	3	348											
HS3ST1	9957	broad.mit.edu	37	chr4	11400850	11400850	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtaagcagcggtcccggccGctgtcccgcaggcagtaaaa	13	13	0	0			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr4:11400850G>A	ENST00000002596.5	-	2	1954	c.780C>T	c.(778-780)agC>agT	p.S260S		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	260					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GGTCCCGGCCGCTGTCCCGCA	0.502																																						ENST00000002596.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						c.(778-780)agC>agT		heparan sulfate (glucosamine) 3-O-sulfotransferase 1							46	48	47					4																	11400850		2203	4300	6503	SO:0001819	synonymous_variant	9957					Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr4:11400850G>A	AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"Sulfotransferases, membrane-bound"	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.780C>T	4.37:g.11400850G>A							p.S260S	NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN			2	1954	-			260					B3KUA6|Q6PEY8	Silent	SNP	ENST00000002596.5	37	c.780C>T	CCDS3408.1																																																																																				0.502	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	NM_005114		6	125	0	0	0	0.001168	0	6	125					A	11400850	G	A	11400850	2	1	11	1	0	0	0	0	0	0	0	1	7363	1078	38	1		1	HS3ST1	4	11400850	Silent	SNP	G	TCGA-BJ-A0ZF-01A-11D-A10S-08		11400850	179753426	4	349											
UGT2A1	10941	broad.mit.edu	37	chr4	70460903	70460903	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagatcattctggggtatcCaatcaaagagctgagtattg	11	6	3	3			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr4:70460903C>A	ENST00000503640.1	-	4	1116	c.1061G>T	c.(1060-1062)tGg>tTg	p.W354L	UGT2A1_ENST00000514019.1_Missense_Mutation_p.W520L|UGT2A1_ENST00000512704.1_Missense_Mutation_p.W310L|UGT2A2_ENST00000457664.2_Missense_Mutation_p.W363L|UGT2A1_ENST00000502343.1_5'UTR|UGT2A1_ENST00000286604.4_Missense_Mutation_p.W354L	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	354					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CTGGGGTATCCAATCAAAGAG	0.363																																						ENST00000503640.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(1060-1062)tGg>tTg		UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus							133	127	129					4																	70460903		2203	4300	6503	SO:0001583	missense	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	g.chr4:70460903C>A	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"UDP glucuronosyltransferases"	12542	protein-coding gene	gene with protein product		604716	"UDP glycosyltransferase 2 family, polypeptide A1", "UDP glucuronosyltransferase 2 family, polypeptide A1"			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.1061G>T	4.37:g.70460903C>A	ENSP00000424478:p.Trp354Leu					UGT2A1_ENST00000514019.1_Missense_Mutation_p.W520L|UGT2A2_ENST00000457664.2_Missense_Mutation_p.W363L|UGT2A1_ENST00000286604.4_Missense_Mutation_p.W354L|UGT2A1_ENST00000512704.1_Missense_Mutation_p.W310L|UGT2A1_ENST00000502343.1_5'UTR	p.W354L	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN			4	1116	-			354					B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	c.1061G>T	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367342	0.82463	.	.	ENSG00000173610	ENST00000457664;ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604	T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.92283	0.7552	M	0.93462	3.42	.	.	.	D;D;D;D;D	0.89917	0.997;1.0;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.942;0.986;0.999;0.995;0.999	D	0.94001	0.7275	9	0.87932	D	0	.	16.7108	0.85385	0.0:1.0:0.0:0.0	.	520;520;310;363;354	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1-2;Q9Y4X1	.;.;.;.;UD2A1_HUMAN	L	363;354;310;520;354	ENSP00000387888:W363L;ENSP00000424478:W354L;ENSP00000421432:W310L;ENSP00000425497:W520L;ENSP00000286604:W354L	ENSP00000286604:W354L	W	-	2	0	UGT2A1	70495492	1.000000	0.71417	0.991000	0.47740	0.725000	0.41563	7.466000	0.80914	2.609000	0.88269	0.549000	0.68633	TGG		0.363	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		17	127	1	0	3.32936e-07	0.006122	4.2806e-07	17	127					A	70460903	C	A	70460903	3	1	11	1	0	0	0	0	1	0	0	0	16950	595	21	4	534	4	UGT2A1	4	70460903	Missense_Mutation	SNP	C	TCGA-BJ-A0ZF-01A-11D-A10S-08	59060053	70460903	120693373	5	350											
FAT4	79633	broad.mit.edu	37	chr4	126336901	126336901	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgttcctgtatttgagctAtctccatattctgtaaatgt	6	7	2	1			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr4:126336901A>G	ENST00000394329.3	+	5	6796	c.6783A>G	c.(6781-6783)ctA>ctG	p.L2261L	FAT4_ENST00000335110.5_Silent_p.L559L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2261	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TATTTGAGCTATCTCCATATT	0.388																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(6781-6783)ctA>ctG		FAT atypical cadherin 4							67	65	66					4																	126336901		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126336901A>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6783A>G	4.37:g.126336901A>G						FAT4_ENST00000335110.5_Silent_p.L559L	p.L2261L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			5	6796	+			2261			Cadherin 22.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.6783A>G	CCDS3732.3																																																																																				0.388	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		9	104	0	0	0	0.006214	0	9	104					G	126336901	A	G	126336901	2	3	11	1	0	0	0	0	0	0	0	1	5692	436	16	3		3	FAT4	4	126336901	Silent	SNP	A	TCGA-BJ-A0ZF-01A-11D-A10S-08	55875998	126336901	64817375	6	351											
ZFYVE16	9765	broad.mit.edu	37	chr5	79768579	79768579	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaaacttagtctcatttctaGatggcttaatggtacaaata	7	6	2	1			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr5:79768579G>T	ENST00000338008.5	+	15	4204		c.e15-1		ZFYVE16_ENST00000505560.1_Splice_Site|ZFYVE16_ENST00000510158.1_Splice_Site	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16						BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		CTCATTTCTAGATGGCTTAAT	0.348																																					Melanoma(150;1452 1854 16018 17851 37292)	ENST00000338008.5																			0				breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.e15-1		zinc finger, FYVE domain containing 16							86	91	90					5																	79768579		2203	4300	6503	SO:0001630	splice_region_variant	9765				BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	g.chr5:79768579G>T	AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"Zinc fingers, FYVE domain containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	20756	protein-coding gene	gene with protein product	"endofin", "protein phosphatase 1, regulatory subunit 69"	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.4025-1G>T	5.37:g.79768579G>T						ZFYVE16_ENST00000510158.1_Splice_Site|ZFYVE16_ENST00000505560.1_Splice_Site		NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	15	4204	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)						O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Splice_Site	SNP	ENST00000338008.5	37		CCDS4050.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489161	0.84962	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5343	0.95242	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZFYVE16	79804335	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	8.774000	0.91767	2.713000	0.92767	0.655000	0.94253	.		0.348	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733	Intron	36	82	1	0	2.51966e-14	0.00361	3.30705e-14	36	82					T	79768579	G	T	79768579	5	4	11	1	0	0	0	0	0	0	1	0	17661	956	33	4	4078	4	ZFYVE16	5	79768579	Splice_Site	SNP	G	TCGA-BJ-A0ZF-01A-11D-A10S-08		79768579	101146681	7	352											
TGFBI	7045	broad.mit.edu	37	chr5	135390519	135390519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccctggaaactctgggcgGcaaaaaactgagagtttttg	12	8	1	1			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr5:135390519G>A	ENST00000442011.2	+	10	1540	c.1379G>A	c.(1378-1380)gGc>gAc	p.G460D	TGFBI_ENST00000305126.8_Missense_Mutation_p.G460D	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	460	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)	p.G460D(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACTCTGGGCGGCAAAAAACTG	0.423																																						ENST00000442011.2																			1	Substitution - Missense(1)	p.G460D(1)	lung(1)	breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1378-1380)gGc>gAc		transforming growth factor, beta-induced, 68kDa							179	180	179					5																	135390519		1837	4078	5915	SO:0001583	missense	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135390519G>A	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"transforming growth factor, beta-induced, 68kD"	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.1379G>A	5.37:g.135390519G>A	ENSP00000416330:p.Gly460Asp					TGFBI_ENST00000305126.8_Missense_Mutation_p.G460D	p.G460D	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		10	1540	+			460			FAS1 3.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	ENST00000442011.2	37	c.1379G>A	CCDS47266.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734757	0.89482	.	.	ENSG00000120708	ENST00000442011;ENST00000398813;ENST00000305126	T;T	0.77098	-1.07;-1.07	5.83	5.83	0.93111	FAS1 domain (5);	0.045109	0.85682	D	0.000000	T	0.80757	0.4684	M	0.65975	2.015	0.80722	D	1	P;P	0.48230	0.704;0.907	P;P	0.48654	0.463;0.585	T	0.82489	-0.0432	10	0.66056	D	0.02	7.7385	13.748	0.62887	0.0787:0.0:0.9213:0.0	.	193;460	B9ZVW9;Q15582	.;BGH3_HUMAN	D	460;193;460	ENSP00000416330:G460D;ENSP00000306306:G460D	ENSP00000306306:G460D	G	+	2	0	TGFBI	135418418	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.936000	0.87665	2.769000	0.95229	0.655000	0.94253	GGC		0.423	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			6	356	0	0	0	0.001984	0	6	356					A	135390519	G	A	135390519	3	1	11	1	0	0	0	0	1	0	0	0	15817	1203	42	2	1417	2	TGFBI	5	135390519	Missense_Mutation	SNP	G	TCGA-BJ-A0ZF-01A-11D-A10S-08	55621940	135390519	45524741	8	353											
HLA-DPB1	3115	broad.mit.edu	37	chr6	33043841	33043841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggttctgcaggtttctgCggccccccggacagtggctc	14	13	2	0			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr6:33043841C>T	ENST00000418931.2	+	1	139	c.23C>T	c.(22-24)gCg>gTg	p.A8V	HLA-DPA1_ENST00000419277.1_Intron|HLA-DPA1_ENST00000428995.1_5'Flank|HLA-DPA1_ENST00000463066.1_5'Flank|HLA-DPB1_ENST00000535465.1_Missense_Mutation_p.A8V	NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	8					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	peptide antigen binding (GO:0042605)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						CAGGTTTCTGCGGCCCCCCGG	0.547																																						ENST00000418931.2																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						c.(22-24)gCg>gTg		major histocompatibility complex, class II, DP beta 1							45	45	45					6																	33043841		1510	2708	4218	SO:0001583	missense	3115				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex		g.chr6:33043841C>T		CCDS4765.1	6p21.3	2013-01-11			ENSG00000223865	ENSG00000223865		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4940	protein-coding gene	gene with protein product		142858		HLA-DP1B			Standard	NM_002121		Approved		uc003ocu.2	P04440	OTTHUMG00000031076	ENST00000418931.2:c.23C>T	6.37:g.33043841C>T	ENSP00000408146:p.Ala8Val					HLA-DPA1_ENST00000419277.1_Intron|HLA-DPB1_ENST00000535465.1_Missense_Mutation_p.A8V	p.A8V	NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN			1	139	+			8					A0PFJ7|A5I886|A8YPB3|B5U8B4|B7VF80|B7VF87|B8ZX68|B8ZYT0|B9W5S8|B9W6F7|B9W6F9|C0MPP5|C0MPQ2|C0MPQ3|C0MPQ5|C0MPQ6|C0MPQ7|C4R9J5|C5IZL1|O00259|O19698|O19700|O19702|O19749|O46884|O77952|O98215|O98216|O98217|O98218|O98219|O98222|O98223|P01916|P04232|P13763|P79493|P79608|Q0P0L4|Q0ZFN3|Q14279|Q27S71|Q29682|Q29684|Q29698|Q29714|Q29775|Q29776|Q29778|Q29779|Q29781|Q29827|Q29828|Q29879|Q29880|Q29898|Q29977|Q2MGW3|Q30015|Q30031|Q30032|Q30033|Q30034|Q30050|Q30051|Q30052|Q30053|Q30054|Q30055|Q30174|Q4GY31|Q4JHD8|Q5ENE0|Q5ENE1|Q5ENW3|Q5EP46|Q5EP47|Q5EP49|Q5EP51|Q5EP52|Q5EP53|Q5EP56|Q5I4H8|Q5I4H9|Q5ISH4|Q5ISH5|Q5SQ73|Q5STP2|Q5YLA6|Q6IVX1|Q6LBX2|Q6LBX3|Q6LBX4|Q6LBX5|Q6LBX6|Q6LBX7|Q6PWX6|Q6TAS4|Q714U1|Q714U2|Q7YQ10|Q860Z7|Q8HWL7|Q8HWT5|Q8SNC4|Q95HC1|Q95IT7|Q95IT8|Q9BD13|Q9GIM2|Q9GIM4|Q9GIX6|Q9GJ41|Q9MY67|Q9TNT7|Q9TQE2|Q9XS11|Q9XS12	Missense_Mutation	SNP	ENST00000418931.2	37	c.23C>T	CCDS4765.1	.	.	.	.	.	.	.	.	.	.	C	8.770	0.925776	0.18056	.	.	ENSG00000223865	ENST00000418931;ENST00000535465;ENST00000411942	T;T	0.44482	0.92;0.92	3.65	-7.3	0.01446	MHC classes I/II-like antigen recognition protein (1);	.	.	.	.	T	0.05181	0.0138	N	0.04508	-0.205	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.08055	0.003;0.002	T	0.36986	-0.9725	9	0.72032	D	0.01	.	3.2518	0.06818	0.1612:0.2742:0.432:0.1326	.	18;8	Q59GY1;P04440	.;DPB1_HUMAN	V	8	ENSP00000408146:A8V;ENSP00000439674:A8V	ENSP00000389210:A8V	A	+	2	0	HLA-DPB1	33151819	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.326000	0.02685	-1.294000	0.02360	-2.099000	0.00362	GCG		0.547	HLA-DPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076106.2	NM_002121		3	40	0	0	0	0.004672	0	3	40					T	33043841	C	T	33043841	3	4	11	1	0	0	0	0	1	0	0	0	7203	768	27	1	25	1	HLA-DPB1	6	33043841	Missense_Mutation	SNP	C	TCGA-BJ-A0ZF-01A-11D-A10S-08		33043841	138071226	9	354											
CPNE5	57699	broad.mit.edu	37	chr6	36710082	36710082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggggacgcagggggcgtgCgggctggggactgcgagggc	26	8	0	0	rs3830138	byFrequency	TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr6:36710082C>T	ENST00000244751.2	-	21	2369	c.1745G>A	c.(1744-1746)cGc>cAc	p.R582H	CPNE5_ENST00000393189.2_Missense_Mutation_p.R290H|CPNE5_ENST00000459703.1_5'UTR	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	582			R -> H (in dbSNP:rs3830138).			extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGGGGGCGTGCGGGCTGGGGA	0.687													C|||	5	0.000998403	0	0	5008	,	,		12646	0.005		0	False		,,,				2504	0					ENST00000244751.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1744-1746)cGc>cAc		copine V							36	40	39					6																	36710082		2201	4298	6499	SO:0001583	missense	57699							g.chr6:36710082C>T	H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.1745G>A	6.37:g.36710082C>T	ENSP00000244751:p.Arg582His					CPNE5_ENST00000459703.1_5'UTR|CPNE5_ENST00000393189.2_Missense_Mutation_p.R290H	p.R582H	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN			21	2369	-			582		R -> H (in dbSNP:rs3830138).			Q7Z6C8	Missense_Mutation	SNP	ENST00000244751.2	37	c.1745G>A	CCDS4825.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	8.516	0.867691	0.17250	.	.	ENSG00000124772	ENST00000244751;ENST00000393189	T;T	0.12039	3.49;2.72	4.73	-3.39	0.04868	.	0.895550	0.10015	N	0.726697	T	0.01592	0.0051	N	0.08118	0	0.23669	N	0.997158	B	0.02656	0.0	B	0.01281	0.0	T	0.47275	-0.9130	10	0.32370	T	0.25	.	6.2884	0.21047	0.0:0.2098:0.1573:0.6329	rs3830138	582	Q9HCH3	CPNE5_HUMAN	H	582;290	ENSP00000244751:R582H;ENSP00000376885:R290H	ENSP00000244751:R582H	R	-	2	0	CPNE5	36818060	0.348000	0.24861	0.965000	0.40720	0.697000	0.40408	-0.354000	0.07681	-0.299000	0.08909	0.462000	0.41574	CGC		0.687	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1	NM_020939		4	72	0	0	0	0.000248	0	4	72					T	36710082	C	T	36710082	3	4	11	1	0	0	0	0	1	0	0	0	3815	768	27	1	40	1	CPNE5	6	36710082	Missense_Mutation	SNP	C	TCGA-BJ-A0ZF-01A-11D-A10S-08	3666241	36710082	134404985	10	355											
ZNF804B	219578	broad.mit.edu	37	chr7	88962796	88962796	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgcatgaagagtgctcttcTccttaaaggaaaaaatctcc	7	9	3	2			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr7:88962796T>C	ENST00000333190.4	+	4	1109	c.500T>C	c.(499-501)cTc>cCc	p.L167P		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	167							metal ion binding (GO:0046872)			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)			AGTGCTCTTCTCCTTAAAGGA	0.443										HNSCC(36;0.09)																												ENST00000333190.4																			0				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.(499-501)cTc>cCc		zinc finger protein 804B							86	84	85					7																	88962796		2203	4299	6502	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88962796T>C	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.500T>C	7.37:g.88962796T>C	ENSP00000329638:p.Leu167Pro	HNSCC(36;0.09)					p.L167P	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1109	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		167					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.500T>C	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	T	9.028	0.986502	0.18889	.	.	ENSG00000182348	ENST00000333190	T	0.05855	3.38	4.85	4.85	0.62838	.	0.812485	0.10720	N	0.641872	T	0.11239	0.0274	L	0.34521	1.04	0.44359	D	0.99725	D	0.64830	0.994	P	0.60173	0.87	T	0.22836	-1.0205	10	0.27785	T	0.31	-9.6109	5.9201	0.19078	0.0:0.0903:0.17:0.7397	.	167	A4D1E1	Z804B_HUMAN	P	167	ENSP00000329638:L167P	ENSP00000329638:L167P	L	+	2	0	ZNF804B	88800732	0.005000	0.15991	1.000000	0.80357	0.662000	0.39071	1.185000	0.32065	2.050000	0.60909	0.528000	0.53228	CTC		0.443	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		4	107	0	0	0	0.000248	0	4	107					C	88962796	T	C	88962796	3	2	11	1	0	0	0	0	1	0	0	0	18168	1551	54	3	514	3	ZNF804B	7	88962796	Missense_Mutation	SNP	T	TCGA-BJ-A0ZF-01A-11D-A10S-08		88962796	70175867	11	356											
PTPRD	5789	broad.mit.edu	37	chr9	8465600	8465600	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaaggacatcaaagtgagCggcaatatatggctttaatt	12	5	1	1			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr9:8465600C>T	ENST00000381196.4	-	29	4123	c.3580G>A	c.(3580-3582)Gct>Act	p.A1194T	PTPRD_ENST00000397606.3_Missense_Mutation_p.A773T|PTPRD_ENST00000397611.3_Missense_Mutation_p.A780T|PTPRD_ENST00000537002.1_Missense_Mutation_p.A780T|PTPRD_ENST00000358503.5_Missense_Mutation_p.A1172T|PTPRD_ENST00000355233.5_Missense_Mutation_p.A783T|PTPRD_ENST00000360074.4_Missense_Mutation_p.A1181T|PTPRD_ENST00000486161.1_Missense_Mutation_p.A783T|PTPRD_ENST00000397617.3_Missense_Mutation_p.A773T|PTPRD_ENST00000540109.1_Missense_Mutation_p.A1194T|PTPRD_ENST00000356435.5_Missense_Mutation_p.A1194T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1194					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCAAAGTGAGCGGCAATATAT	0.428										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(3580-3582)Gct>Act		protein tyrosine phosphatase, receptor type, D							155	145	148					9																	8465600		2203	4299	6502	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8465600C>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3580G>A	9.37:g.8465600C>T	ENSP00000370593:p.Ala1194Thr	TSP Lung(15;0.13)				PTPRD_ENST00000540109.1_Missense_Mutation_p.A1194T|PTPRD_ENST00000537002.1_Missense_Mutation_p.A780T|PTPRD_ENST00000486161.1_Missense_Mutation_p.A783T|PTPRD_ENST00000355233.5_Missense_Mutation_p.A783T|PTPRD_ENST00000397611.3_Missense_Mutation_p.A780T|PTPRD_ENST00000397606.3_Missense_Mutation_p.A773T|PTPRD_ENST00000397617.3_Missense_Mutation_p.A773T|PTPRD_ENST00000358503.5_Missense_Mutation_p.A1172T|PTPRD_ENST00000356435.5_Missense_Mutation_p.A1194T|PTPRD_ENST00000360074.4_Missense_Mutation_p.A1181T	p.A1194T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	29	4123	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1194					B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.3580G>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	32	5.136216	0.94517	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.03;0.04;0.15;0.21;0.03;-0.07;-0.07;0.14;0.21	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.80481	0.4631	M	0.77486	2.375	0.80722	D	1	D;P;D;P;D;D;B;D;D	0.89917	0.994;0.797;0.999;0.892;1.0;0.999;0.076;1.0;0.999	B;B;D;B;D;D;B;D;D	0.81914	0.415;0.067;0.959;0.105;0.993;0.982;0.021;0.995;0.959	T	0.79764	-0.1666	9	.	.	.	.	19.7567	0.96296	0.0:1.0:0.0:0.0	.	773;778;783;783;780;780;1181;1194;1194	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	T	1194;1194;1181;1172;783;773;780;780;665;1194;783;773	ENSP00000370593:A1194T;ENSP00000348812:A1194T;ENSP00000353187:A1181T;ENSP00000351293:A1172T;ENSP00000347373:A783T;ENSP00000380741:A773T;ENSP00000380735:A780T;ENSP00000440515:A780T;ENSP00000438164:A1194T;ENSP00000417093:A783T;ENSP00000380731:A773T	.	A	-	1	0	PTPRD	8455600	1.000000	0.71417	0.985000	0.45067	0.983000	0.72400	7.445000	0.80570	2.746000	0.94184	0.650000	0.86243	GCT		0.428	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			54	98	0	0	0	0.00361	0	54	98					T	8465600	C	T	8465600	3	4	11	1	0	0	0	0	1	0	0	0	12799	768	27	1	2283	1	PTPRD	9	8465600	Missense_Mutation	SNP	C	TCGA-BJ-A0ZF-01A-11D-A10S-08		8465600	132747831	12	357											
LRRC8A	56262	broad.mit.edu	37	chr9	131670524	131670524	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcgatccgtgaggagagcAgctacagcgacatccccgac	12	13	0	2			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr9:131670524A>C	ENST00000259324.5	+	3	1604	c.1081A>C	c.(1081-1083)Agc>Cgc	p.S361R	LRRC8A_ENST00000372599.3_Missense_Mutation_p.S361R|LRRC8A_ENST00000372600.4_Missense_Mutation_p.S361R	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	361					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						TGAGGAGAGCAGCTACAGCGA	0.547																																						ENST00000259324.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						c.(1081-1083)Agc>Cgc		leucine rich repeat containing 8 family, member A							140	112	121					9																	131670524		2203	4300	6503	SO:0001583	missense	56262				pre-B cell differentiation	integral to membrane		g.chr9:131670524A>C	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"leucine rich repeat containing 8"	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.1081A>C	9.37:g.131670524A>C	ENSP00000259324:p.Ser361Arg					LRRC8A_ENST00000372599.3_Missense_Mutation_p.S361R|LRRC8A_ENST00000372600.4_Missense_Mutation_p.S361R	p.S361R	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN			3	1604	+			361					Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	ENST00000259324.5	37	c.1081A>C	CCDS35155.1	.	.	.	.	.	.	.	.	.	.	A	18.99	3.740473	0.69304	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.21734	1.99;1.99;1.99	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.22205	0.0535	L	0.44542	1.39	0.58432	D	0.999999	P	0.50617	0.937	B	0.42851	0.4	T	0.01516	-1.1335	10	0.54805	T	0.06	.	14.5712	0.68213	1.0:0.0:0.0:0.0	.	361	Q8IWT6	LRC8A_HUMAN	R	361	ENSP00000361682:S361R;ENSP00000361680:S361R;ENSP00000259324:S361R	ENSP00000259324:S361R	S	+	1	0	LRRC8A	130710345	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.339000	0.96797	2.043000	0.60533	0.379000	0.24179	AGC		0.547	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594		39	62	0	0	0	0.00361	0	39	62					C	131670524	A	C	131670524	3	2	11	1	0	0	0	0	1	0	0	0	9021	188	7	5	1083	5	LRRC8A	9	131670524	Missense_Mutation	SNP	A	TCGA-BJ-A0ZF-01A-11D-A10S-08	123204924	131670524	9542907	13	358											
MAP3K8	1326	broad.mit.edu	37	chr10	30736732	30736732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcactccccaaaatggaCgttaccaaatagattccgat	5	12	2	1			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr10:30736732C>T	ENST00000263056.1	+	4	1054	c.358C>T	c.(358-360)Cgt>Tgt	p.R120C	MAP3K8_ENST00000542547.1_Missense_Mutation_p.R120C|MAP3K8_ENST00000375321.1_Missense_Mutation_p.R120C	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	120					cell cycle (GO:0007049)|protein phosphorylation (GO:0006468)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				CCAAAATGGACGTTACCAAAT	0.433																																						ENST00000263056.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(358-360)Cgt>Tgt		mitogen-activated protein kinase kinase kinase 8							124	119	121					10																	30736732		2203	4300	6503	SO:0001583	missense	1326				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr10:30736732C>T	D14497	CCDS7166.1	10p11.2	2011-06-09			ENSG00000107968	ENSG00000107968		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6860	protein-coding gene	gene with protein product		191195		COT, ESTF		2072910, 8479752	Standard	NM_005204		Approved	Tpl-2, EST, c-COT, MEKK8	uc009xlf.2	P41279	OTTHUMG00000017889	ENST00000263056.1:c.358C>T	10.37:g.30736732C>T	ENSP00000263056:p.Arg120Cys					MAP3K8_ENST00000542547.1_Missense_Mutation_p.R120C|MAP3K8_ENST00000375321.1_Missense_Mutation_p.R120C	p.R120C	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN			4	1054	+		Prostate(175;0.151)	120					A8K2Q5|D3DRX1|Q14275|Q5T855|Q9HC81	Missense_Mutation	SNP	ENST00000263056.1	37	c.358C>T	CCDS7166.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409499	0.83340	.	.	ENSG00000107968	ENST00000375328;ENST00000263056;ENST00000542547;ENST00000415139;ENST00000413724;ENST00000375321	T;T;T;T;T	0.71461	-0.57;-0.57;4.3;1.31;-0.57	5.59	4.6	0.57074	Protein kinase-like domain (1);	0.048714	0.85682	D	0.000000	T	0.73071	0.3540	N	0.24115	0.695	0.58432	D	0.999996	D	0.89917	1.0	P	0.61722	0.893	T	0.77278	-0.2647	10	0.72032	D	0.01	.	17.1839	0.86861	0.1347:0.8653:0.0:0.0	.	120	P41279	M3K8_HUMAN	C	120	ENSP00000263056:R120C;ENSP00000443610:R120C;ENSP00000409653:R120C;ENSP00000391275:R120C;ENSP00000364470:R120C	ENSP00000263056:R120C	R	+	1	0	MAP3K8	30776738	1.000000	0.71417	0.994000	0.49952	0.964000	0.63967	5.515000	0.67049	2.639000	0.89480	0.655000	0.94253	CGT		0.433	MAP3K8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047416.2	NM_005204		80	122	0	0	0	0.00361	0	80	122					T	30736732	C	T	30736732	3	4	11	1	0	0	0	0	1	0	0	0	9256	536	19	1	364	1	MAP3K8	10	30736732	Missense_Mutation	SNP	C	TCGA-BJ-A0ZF-01A-11D-A10S-08		30736732	104798015	14	359											
FAM196A	642938	broad.mit.edu	37	chr10	128974640	128974640	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgttgtgagtatgcatttgCcggtgtccttactgaccatg	11	9	0	2			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr10:128974640C>T	ENST00000522781.1	-	4	575	c.20G>A	c.(19-21)gGc>gAc	p.G7D	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.G7D	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	7										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TATGCATTTGCCGGTGTCCTT	0.527																																						ENST00000522781.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(19-21)gGc>gAc		family with sequence similarity 196, member A							74	77	76					10																	128974640		2192	4295	6487	SO:0001583	missense	642938							g.chr10:128974640C>T		CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 141"	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.20G>A	10.37:g.128974640C>T	ENSP00000429763:p.Gly7Asp					FAM196A_ENST00000424811.2_Missense_Mutation_p.G7D|DOCK1_ENST00000280333.6_Intron	p.G7D	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN			4	575	-			7					B2RNT4|B7ZME7	Missense_Mutation	SNP	ENST00000522781.1	37	c.20G>A	CCDS31312.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.696408	0.48202	.	.	ENSG00000188916	ENST00000522781;ENST00000424811	T;T	0.48201	0.82;0.82	5.19	5.19	0.71726	.	0.283237	0.39985	N	0.001220	T	0.32041	0.0816	N	0.17082	0.46	0.51012	D	0.9999	B;B	0.29085	0.232;0.232	B;B	0.25759	0.063;0.063	T	0.20840	-1.0263	10	0.66056	D	0.02	.	12.4582	0.55716	0.0:0.923:0.0:0.077	.	7;7	B7ZME7;Q6ZSG2	.;F196A_HUMAN	D	7	ENSP00000429763:G7D;ENSP00000428730:G7D	ENSP00000428730:G7D	G	-	2	0	FAM196A	128864630	1.000000	0.71417	0.152000	0.22495	0.942000	0.58702	4.673000	0.61604	2.591000	0.87537	0.313000	0.20887	GGC		0.527	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762		4	238	0	0	0	0.000248	0	4	238					T	128974640	C	T	128974640	3	4	11	1	0	0	0	0	1	0	0	0	5528	739	26	2	1431	2	FAM196A	10	128974640	Missense_Mutation	SNP	C	TCGA-BJ-A0ZF-01A-11D-A10S-08	98237908	128974640	6560107	15	360											
CDHR5	53841	broad.mit.edu	37	chr11	624828	624828	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgcacatacactgggcctgGgccatggtccccgggggtcg	15	15	0	0			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr11:624828G>T	ENST00000358353.3	-	2	397	c.75C>A	c.(73-75)gcC>gcA	p.A25A	CDHR5_ENST00000397542.2_Silent_p.A25A|CDHR5_ENST00000529337.1_Intron|CDHR5_ENST00000349570.7_Silent_p.A25A			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	25					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						ACTGGGCCTGGGCCATGGTCC	0.701																																						ENST00000358353.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						c.(73-75)gcC>gcA		cadherin-related family member 5							20	22	21					11																	624828		2200	4298	6498	SO:0001819	synonymous_variant	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:624828G>T	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"Cadherins / Cadherin-related"	7521	protein-coding gene	gene with protein product		606839	"mucin and cadherin-like", "mucin-like protocadherin"	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.75C>A	11.37:g.624828G>T						CDHR5_ENST00000529337.1_Intron|CDHR5_ENST00000349570.7_Silent_p.A25A|CDHR5_ENST00000397542.2_Silent_p.A25A	p.A25A			Q9HBB8	CDHR5_HUMAN			2	397	-			25					C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Silent	SNP	ENST00000358353.3	37	c.75C>A	CCDS7707.1																																																																																				0.701	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		7	15	1	0	0.00198382	0.001984	0.00240347	7	15					T	624828	G	T	624828	2	4	11	1	0	0	0	0	0	0	0	1	3122	1219	43	4		4	CDHR5	11	624828	Silent	SNP	G	TCGA-BJ-A0ZF-01A-11D-A10S-08		624828	134381688	16	361											
OR4C6	219432	broad.mit.edu	37	chr11	55433283	55433283	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctttcttatcttaattgCgtcctacacggtcatcctat	4	12	4	0			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr11:55433283C>T	ENST00000314259.3	+	1	670	c.641C>T	c.(640-642)gCg>gTg	p.A214V		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						ATCTTAATTGCGTCCTACACG	0.522																																						ENST00000314259.3																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(640-642)gCg>gTg		olfactory receptor, family 4, subfamily C, member 6							138	122	127					11																	55433283		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433283C>T	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"GPCR / Class A : Olfactory receptors"	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.641C>T	11.37:g.55433283C>T	ENSP00000324769:p.Ala214Val						p.A214V	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	670	+			214					B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.641C>T	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.309760	0.00237	.	.	ENSG00000181903	ENST00000314259	T	0.33654	1.4	4.07	0.359	0.16088	GPCR, rhodopsin-like superfamily (1);	0.882556	0.09405	N	0.806592	T	0.11196	0.0273	N	0.03881	-0.34	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.31696	-0.9934	10	0.05525	T	0.97	.	1.066	0.01611	0.1674:0.421:0.1644:0.2471	.	214	Q8NH72	OR4C6_HUMAN	V	214	ENSP00000324769:A214V	ENSP00000324769:A214V	A	+	2	0	OR4C6	55189859	0.000000	0.05858	0.002000	0.10522	0.017000	0.09413	-2.257000	0.01180	0.087000	0.17167	0.543000	0.68304	GCG		0.522	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		23	163	0	0	0	0.002299	0	23	163					T	55433283	C	T	55433283	3	4	11	1	0	0	0	0	1	0	0	0	11052	768	27	1	643	1	OR4C6	11	55433283	Missense_Mutation	SNP	C	TCGA-BJ-A0ZF-01A-11D-A10S-08	54808455	55433283	79573233	17	362											
NLRX1	79671	broad.mit.edu	37	chr11	119053828	119053828	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actttctctctcctgccagcCtctacttcaatgagctgagc	6	15	4	2			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr11:119053828C>T	ENST00000409109.1	+	10	3195	c.2608C>T	c.(2608-2610)Ctc>Ttc	p.L870F	PDZD3_ENST00000531114.1_5'Flank|PDZD3_ENST00000322712.4_5'Flank|NLRX1_ENST00000409991.1_Splice_Site_p.L870F|NLRX1_ENST00000409265.4_Intron|PDZD3_ENST00000525131.1_5'Flank|PDZD3_ENST00000355547.5_5'Flank|NLRX1_ENST00000292199.2_Splice_Site_p.L870F|NLRX1_ENST00000525863.1_Intron	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	870	Required for the repression of MAVS- induced interferon signaling.				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)		TCCTGCCAGCCTCTACTTCAA	0.592																																						ENST00000409109.1																			0				cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22						c.e10-1		NLR family member X1							33	33	33					11																	119053828		2200	4295	6495	SO:0001630	splice_region_variant	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119053828C>T	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.2607-1C>T	11.37:g.119053828C>T						NLRX1_ENST00000525863.1_Intron|NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000292199.2_Splice_Site_p.L870_splice|NLRX1_ENST00000409991.1_Splice_Site_p.L870_splice|NLRX1_ENST00000409265.4_Intron	p.L870_splice			Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	10	3195	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	870			Required for the repression of MAVS- induced interferon signaling.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Splice_Site	SNP	ENST00000409109.1	37	c.2606_splice	CCDS8416.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768741	0.69878	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409109	T;T;T	0.72282	-0.64;-0.64;-0.64	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000010	D	0.84683	0.5526	M	0.85859	2.78	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86572	0.1848	10	0.87932	D	0	.	12.5217	0.56062	0.0:0.8808:0.0:0.1192	.	870	Q86UT6	NLRX1_HUMAN	F	870	ENSP00000386851:L870F;ENSP00000292199:L870F;ENSP00000387334:L870F	ENSP00000292199:L870F	L	+	1	0	NLRX1	118559038	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.193000	0.42658	2.653000	0.90120	0.655000	0.94253	CTC		0.592	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722	Missense_Mutation	10	36	0	0	0	0.008291	0	10	36					T	119053828	C	T	119053828	5	4	11	1	0	0	0	0	0	0	1	0	10485	695	24	2	2642	2	NLRX1	11	119053828	Splice_Site	SNP	C	TCGA-BJ-A0ZF-01A-11D-A10S-08	63620545	119053828	15952688	18	363											
ARHGAP32	9743	broad.mit.edu	37	chr11	128840216	128840216	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatatggcttatattggtacAgaggtcttgggcagtaggct	14	5	1	1			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr11:128840216A>C	ENST00000310343.9	-	22	4849	c.4850T>G	c.(4849-4851)cTg>cGg	p.L1617R	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.L1268R|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.L1268R|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1617	Interaction with GAB2.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						ATATTGGTACAGAGGTCTTGG	0.522																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(4849-4851)cTg>cGg		Rho GTPase activating protein 32							88	82	84					11																	128840216		2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128840216A>C	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.4850T>G	11.37:g.128840216A>C	ENSP00000310561:p.Leu1617Arg					ARHGAP32_ENST00000392657.3_Missense_Mutation_p.L1268R|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.L1268R	p.L1617R	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			22	4849	-			1617			Interaction with GAB2.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.4850T>G	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	A	18.95	3.731016	0.69074	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.10763	2.85;2.84;2.84	5.66	5.66	0.87406	.	0.288043	0.30093	N	0.010422	T	0.18045	0.0433	L	0.56769	1.78	0.36925	D	0.891589	P	0.47409	0.895	P	0.45428	0.48	T	0.04495	-1.0947	10	0.62326	D	0.03	.	15.8936	0.79318	1.0:0.0:0.0:0.0	.	1617	A7KAX9	RHG32_HUMAN	R	1617;1268;1268	ENSP00000310561:L1617R;ENSP00000376425:L1268R;ENSP00000432862:L1268R	ENSP00000310561:L1617R	L	-	2	0	ARHGAP32	128345426	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	6.791000	0.75120	2.156000	0.67533	0.533000	0.62120	CTG		0.522	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		44	44	0	0	0	0.00874	0	44	44					C	128840216	A	C	128840216	3	2	11	1	0	0	0	0	1	0	0	0	881	188	7	5	1417	5	ARHGAP32	11	128840216	Missense_Mutation	SNP	A	TCGA-BJ-A0ZF-01A-11D-A10S-08	9786388	128840216	6166300	19	364											
PABPN1	8106	broad.mit.edu	37	chr14	23792253	23792253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaagatggaggctgatgCccgttccatctatgttggca	14	8	1	3			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr14:23792253C>T	ENST00000216727.4	+	3	693	c.512C>T	c.(511-513)gCc>gTc	p.A171V	PABPN1_ENST00000556821.1_Missense_Mutation_p.A43V|AL049829.1_ENST00000594872.1_5'Flank|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.A198V|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.A198V|PABPN1_ENST00000557702.1_Missense_Mutation_p.A43V|PABPN1_ENST00000397276.2_Missense_Mutation_p.A171V	NM_004643.3	NP_004634.1	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	171	Necessary for homooligomerization.				gene expression (GO:0010467)|modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|muscle contraction (GO:0006936)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GAGGCTGATGCCCGTTCCATC	0.438																																						ENST00000397276.2																			0				large_intestine(1)|lung(1)|ovary(2)	4						c.(511-513)gCc>gTc		poly(A) binding protein, nuclear 1							129	134	132					14																	23792253		2203	4300	6503	SO:0001583	missense	8106							g.chr14:23792253C>T	AF026029	CCDS9592.1	14q11.2	2013-02-12	2001-11-28		ENSG00000100836	ENSG00000100836		"RNA binding motif (RRM) containing"	8565	protein-coding gene	gene with protein product		602279	"poly(A)-binding protein, nuclear 1"	OPMD, PABP2		7795598	Standard	NM_004643		Approved	PAB2		Q86U42	OTTHUMG00000028739	ENST00000216727.4:c.512C>T	14.37:g.23792253C>T	ENSP00000216727:p.Ala171Val					PABPN1_ENST00000216727.4_Missense_Mutation_p.A171V|PABPN1_ENST00000556821.1_Missense_Mutation_p.A43V|PABPN1_ENST00000557702.1_Missense_Mutation_p.A43V|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.A198V|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.A198V	p.A171V						GBM - Glioblastoma multiforme(265;0.00643)	3	525	+	all_cancers(95;6.69e-06)							D3DS49|O43484	Missense_Mutation	SNP	ENST00000216727.4	37	c.512C>T	CCDS9592.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.197917	0.79015	.	.	ENSG00000258643;ENSG00000258643;ENSG00000100836;ENSG00000100836;ENSG00000100836;ENSG00000100836	ENST00000553781;ENST00000557008;ENST00000216727;ENST00000397276;ENST00000556821;ENST00000557702	T;T;T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78;-0.78;-0.78	5.22	4.33	0.51752	Nucleotide-binding, alpha-beta plait (1);	0.118544	0.56097	D	0.000036	T	0.76543	0.4002	M	0.67517	2.055	0.48511	D	0.999667	P;P;P	0.41597	0.609;0.728;0.756	B;P;P	0.46076	0.269;0.458;0.503	T	0.78112	-0.2331	10	0.54805	T	0.06	-1.8876	12.7988	0.57573	0.0:0.9192:0.0:0.0808	.	171;171;198	Q86U42;Q86U42-2;G3V5R7	PABP2_HUMAN;.;.	V	198;198;171;171;43;43	ENSP00000451320:A198V;ENSP00000452479:A198V;ENSP00000216727:A171V;ENSP00000380446:A171V;ENSP00000451970:A43V;ENSP00000450724:A43V	ENSP00000216727:A171V	A	+	2	0	PABPN1;RP11-124D2.2	22862093	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.082000	0.57635	1.329000	0.45376	0.561000	0.74099	GCC		0.438	PABPN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071767.4	NM_004643		4	242	0	0	0	0.000602	0	4	242					T	23792253	C	T	23792253	3	4	11	1	0	0	0	0	1	0	0	0	11368	739	26	2	522	2	PABPN1	14	23792253	Missense_Mutation	SNP	C	TCGA-BJ-A0ZF-01A-11D-A10S-08		23792253	83557287	20	365											
ZC3H14	79882	broad.mit.edu	37	chr14	89075665	89075665	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttgttcacccaaattgTaaatatgatgcaaagtgtac	7	6	1	1			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr14:89075665T>C	ENST00000251038.5	+	14	2148	c.1923T>C	c.(1921-1923)tgT>tgC	p.C641C	ZC3H14_ENST00000318308.6_Silent_p.C212C|ZC3H14_ENST00000336693.4_Silent_p.C476C|ZC3H14_ENST00000557607.1_Silent_p.C330C|ZC3H14_ENST00000555755.1_Silent_p.C636C|ZC3H14_ENST00000359301.3_Silent_p.C476C|ZC3H14_ENST00000393514.5_Silent_p.C616C|ZC3H14_ENST00000406216.3_Silent_p.C187C|ZC3H14_ENST00000302216.8_Silent_p.C485C|ZC3H14_ENST00000555900.1_Silent_p.C343C|ZC3H14_ENST00000556945.1_Silent_p.C510C	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	641						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						ACCCAAATTGTAAATATGATG	0.358																																						ENST00000251038.5																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						c.(1921-1923)tgT>tgC		zinc finger CCCH-type containing 14							121	110	114					14																	89075665		2203	4300	6503	SO:0001819	synonymous_variant	79882					cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding	g.chr14:89075665T>C	AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"Zinc fingers, CCCH-type domain containing"	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.1923T>C	14.37:g.89075665T>C						ZC3H14_ENST00000556945.1_Silent_p.C510C|ZC3H14_ENST00000555900.1_Silent_p.C343C|ZC3H14_ENST00000555755.1_Silent_p.C636C|ZC3H14_ENST00000557607.1_Silent_p.C330C|ZC3H14_ENST00000406216.3_Silent_p.C187C|ZC3H14_ENST00000393514.5_Silent_p.C616C|ZC3H14_ENST00000359301.3_Silent_p.C476C|ZC3H14_ENST00000336693.4_Silent_p.C476C|ZC3H14_ENST00000318308.6_Silent_p.C212C|ZC3H14_ENST00000302216.8_Silent_p.C485C	p.C641C	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN			14	2148	+			641					A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Silent	SNP	ENST00000251038.5	37	c.1923T>C	CCDS32133.1	.	.	.	.	.	.	.	.	.	.	T	9.930	1.214623	0.22289	.	.	ENSG00000100722	ENST00000556000	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	T	0.73024	0.3534	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72243	-0.4350	4	.	.	.	-10.976	16.1205	0.81351	0.0:0.0:0.0:1.0	.	.	.	.	A	557	.	.	V	+	2	0	ZC3H14	88145418	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.763000	0.62257	2.205000	0.71048	0.533000	0.62120	GTA		0.358	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824		3	153	0	0	0	0.004672	0	3	153					C	89075665	T	C	89075665	2	2	11	1	0	0	0	0	0	0	0	1	17563	1644	57	3		3	ZC3H14	14	89075665	Silent	SNP	T	TCGA-BJ-A0ZF-01A-11D-A10S-08	65283412	89075665	18273875	21	366											
ZFP106	64397	broad.mit.edu	37	chr15	42713287	42713287	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtaattctgcatcagattaAgcctcacggcctgaatactg	9	10	3	2			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr15:42713287A>C	ENST00000263805.4	-	17	5746	c.5420T>G	c.(5419-5421)cTt>cGt	p.L1807R	ZNF106_ENST00000565611.1_Missense_Mutation_p.L992R|ZNF106_ENST00000565660.1_5'Flank|ZNF106_ENST00000565380.1_Missense_Mutation_p.L1035R	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1807					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CATCAGATTAAGCCTCACGGC	0.413																																						ENST00000263805.4																			0											c.(5419-5421)cTt>cGt		zinc finger protein 106							174	164	167					15																	42713287		2203	4299	6502	SO:0001583	missense	64397							g.chr15:42713287A>C	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"Zinc fingers, C2H2-type"	12886	protein-coding gene	gene with protein product	"SH3-domain binding protein 3"		"zinc finger protein 106 homolog (mouse)"	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.5420T>G	15.37:g.42713287A>C	ENSP00000263805:p.Leu1807Arg					ZNF106_ENST00000565380.1_Missense_Mutation_p.L1035R|ZNF106_ENST00000565611.1_Missense_Mutation_p.L992R	p.L1807R	NM_022473.1	NP_071918.1					17	5746	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.5420T>G	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	A	29.3	4.991774	0.93106	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	T	0.21191	2.02	5.43	5.43	0.79202	WD40-repeat-containing domain (1);	0.229124	0.37095	N	0.002243	T	0.34337	0.0894	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.986;0.992;0.986	T	0.12604	-1.0541	10	0.72032	D	0.01	-10.0167	15.6269	0.76867	1.0:0.0:0.0:0.0	.	1035;1807;1035	E9PE29;Q9H2Y7;B4DZ40	.;ZF106_HUMAN;.	R	1807;1035	ENSP00000263805:L1807R	ENSP00000263805:L1807R	L	-	2	0	ZFP106	40500579	1.000000	0.71417	0.928000	0.36995	0.982000	0.71751	8.684000	0.91242	2.276000	0.75962	0.460000	0.39030	CTT		0.413	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		14	156	0	0	0	0.001855	0	14	156					C	42713287	A	C	42713287	3	2	11	1	0	0	0	0	1	0	0	0	17634	72	3	5	243	5	ZFP106	15	42713287	Missense_Mutation	SNP	A	TCGA-BJ-A0ZF-01A-11D-A10S-08		42713287	59818105	22	367											
ONECUT1	3175	broad.mit.edu	37	chr15	53081466	53081467	+	Frame_Shift_Ins	INS	-	-	G													atcttgtcggtgggcatggcINSggcccccgggtgggcatagt							TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr15:53081466_53081467insG	ENST00000305901.5	-	1	742_743	c.615_616insC	c.(613-618)gccgccfs	p.A206fs	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	206					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		GTGGGCATGGCGGCCCCCGGGT	0.713																																						ENST00000305901.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17						c.(613-618)gcccatfs		one cut homeobox 1																																				SO:0001589	frameshift_variant	3175				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr15:53081466_53081467insG	U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"Homeoboxes / CUT class"	8138	protein-coding gene	gene with protein product		604164	"one cut domain, family member 1"	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.616dupC	15.37:g.53081468_53081468dupG	ENSP00000302630:p.Ala206fs					ONECUT1_ENST00000561401.2_Intron	p.H206fs	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN		all cancers(107;0.0708)	1	742_743	-			206					B2RTV4|Q99744|Q9UMR6	Frame_Shift_Ins	INS	ENST00000305901.5	37	c.615_616insC	CCDS10150.1																																																																																				0.713	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254849.2			11	172						11	172	---	---	---	---	G	53081467	-	G	53081466	7	5	11	1	0	1	1	0	0	0	0	0	10868	768	27	0	789	0	ONECUT1	15	53081466	Frame_Shift_Ins	INS	-	TCGA-BJ-A0ZF-01A-11D-A10S-08	10368179	53081466	49449926	23	368											
BNC1	646	broad.mit.edu	37	chr15	83935700	83935700	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccggtccagtaggatttttAggcgaacggggatggcctgg	17	8	0	0			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr15:83935700A>G	ENST00000345382.2	-	3	408	c.323T>C	c.(322-324)cTa>cCa	p.L108P	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.L101P	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	108					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TAGGATTTTTAGGCGAACGGG	0.502																																						ENST00000345382.2																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						c.(322-324)cTa>cCa		basonuclin 1							111	104	106					15																	83935700		2203	4300	6503	SO:0001583	missense	646				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:83935700A>G	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"Zinc fingers, C2H2-type"	1081	protein-coding gene	gene with protein product		601930	"basonuclin"	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.323T>C	15.37:g.83935700A>G	ENSP00000307041:p.Leu108Pro					BNC1_ENST00000569704.1_Missense_Mutation_p.L101P|RP11-382A20.4_ENST00000565495.1_RNA	p.L108P	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN			3	408	-			108					Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	c.323T>C	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.546108	0.86022	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.04015	3.73	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.22044	0.0531	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.00203	-1.1924	10	0.87932	D	0	-17.0966	15.794	0.78394	1.0:0.0:0.0:0.0	.	101;108	F5GY04;Q01954	.;BNC1_HUMAN	P	108;101	ENSP00000307041:L108P	ENSP00000307041:L108P	L	-	2	0	BNC1	81726704	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.043000	0.93799	2.317000	0.78254	0.459000	0.35465	CTA		0.502	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		3	151	0	0	0	0.004672	0	3	151					G	83935700	A	G	83935700	3	3	11	1	0	0	0	0	1	0	0	0	1474	420	15	3	2673	3	BNC1	15	83935700	Missense_Mutation	SNP	A	TCGA-BJ-A0ZF-01A-11D-A10S-08	30854234	83935700	18595692	24	369											
CORO7	79585	broad.mit.edu	37	chr16	4409369	4409369	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tcggggagcagctcgtacagGaatacacgggtgtcgccctg	15	11	0	0	rs372039186		TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr16:4409369G>C	ENST00000251166.4	-	23	2413	c.2268C>G	c.(2266-2268)ttC>ttG	p.F756L	CORO7_ENST00000539968.1_Missense_Mutation_p.F536L|CORO7-PAM16_ENST00000572274.1_5'Flank|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.F756L|CORO7_ENST00000574025.1_Missense_Mutation_p.F671L|CORO7_ENST00000537233.2_Missense_Mutation_p.F738L	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	756					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						GCTCGTACAGGAATACACGGG	0.667											OREG0023580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000251166.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(2266-2268)ttC>ttG		coronin 7							57	50	53					16																	4409369		2197	4299	6496	SO:0001583	missense	79585							g.chr16:4409369G>C	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"Coronins", "WD repeat domain containing"	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.2268C>G	16.37:g.4409369G>C	ENSP00000251166:p.Phe756Leu		OREG0023580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	618	CORO7_ENST00000539968.1_Missense_Mutation_p.F536L|CORO7_ENST00000574025.1_Missense_Mutation_p.F671L|CORO7_ENST00000537233.2_Missense_Mutation_p.F738L|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.F756L	p.F756L	NM_024535.4	NP_078811.3					23	2413	-								B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP	ENST00000251166.4	37	c.2268C>G	CCDS10513.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.086408	0.36855	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968	T;T	0.12984	2.63;2.63	5.72	2.41	0.29592	WD40/YVTN repeat-like-containing domain (1);Domain of unknown function DUF1900 (1);	0.439679	0.27031	N	0.021273	T	0.24314	0.0589	L	0.45581	1.43	0.80722	D	1	B;D;D;B;B	0.76494	0.084;0.999;0.999;0.238;0.196	B;D;D;B;B	0.91635	0.134;0.992;0.999;0.085;0.21	T	0.01232	-1.1411	10	0.35671	T	0.21	-23.4507	7.3207	0.26526	0.4442:0.0:0.5558:0.0	.	671;738;536;756;737	P57737-2;B4DFD6;B3KUH7;P57737;B4DKU9	.;.;.;CORO7_HUMAN;.	L	756;671;536	ENSP00000251166:F756L;ENSP00000446221:F536L	ENSP00000251166:F756L	F	-	3	2	CORO7	4349370	1.000000	0.71417	0.998000	0.56505	0.063000	0.16089	2.624000	0.46444	0.780000	0.33566	0.655000	0.94253	TTC		0.667	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535		8	28	0	0	0	0.00308	0	8	28					C	4409369	G	C	4409369	3	2	11	1	0	0	0	0	1	0	0	0	3759	1165	41	4	533	4	CORO7	16	4409369	Missense_Mutation	SNP	G	TCGA-BJ-A0ZF-01A-11D-A10S-08		4409369	85945384	25	370											
C16orf58	64755	broad.mit.edu	37	chr16	31504977	31504977	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttgggtcgagtacctctcccCtctgaaggtagtgcttcagg	12	11	3	1			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr16:31504977C>G	ENST00000327237.2	-	8	944	c.905G>C	c.(904-906)aGg>aCg	p.R302T	C16orf58_ENST00000570164.1_Missense_Mutation_p.R300T|C16orf58_ENST00000567994.1_Missense_Mutation_p.R257T|C16orf58_ENST00000430477.2_Missense_Mutation_p.R160T			Q96GQ5	RUS1_HUMAN	chromosome 16 open reading frame 58	302						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						TACCTCTCCCCTCTGAAGGTA	0.632																																						ENST00000327237.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						c.(904-906)aGg>aCg		chromosome 16 open reading frame 58							62	65	64					16																	31504977		2197	4300	6497	SO:0001583	missense	64755					integral to membrane		g.chr16:31504977C>G	AK023930	CCDS10715.1	16p11.2	2013-03-04			ENSG00000140688	ENSG00000140688			25848	protein-coding gene	gene with protein product							Standard	NM_022744		Approved	FLJ13868	uc002eci.3	Q96GQ5	OTTHUMG00000132466	ENST00000327237.2:c.905G>C	16.37:g.31504977C>G	ENSP00000317579:p.Arg302Thr					C16orf58_ENST00000570164.1_Missense_Mutation_p.R300T|C16orf58_ENST00000430477.2_Missense_Mutation_p.R160T|C16orf58_ENST00000567994.1_Missense_Mutation_p.R257T	p.R302T			Q96GQ5	CP058_HUMAN			8	944	-			302					Q53GL8|Q8NAJ4|Q9BVY3|Q9H887	Missense_Mutation	SNP	ENST00000327237.2	37	c.905G>C	CCDS10715.1	.	.	.	.	.	.	.	.	.	.	C	5.993	0.367071	0.11352	.	.	ENSG00000140688	ENST00000327237;ENST00000452223;ENST00000430477	T;T	0.40225	1.04;1.04	5.57	-0.365	0.12549	.	0.567353	0.20271	N	0.095670	T	0.10637	0.0260	N	0.00808	-1.17	0.22240	N	0.999269	B;B	0.06786	0.001;0.001	B;B	0.17979	0.001;0.02	T	0.33214	-0.9877	10	0.10902	T	0.67	-2.3546	5.0782	0.14642	0.0:0.4203:0.1454:0.4343	.	160;302	B4DJP2;Q96GQ5	.;CP058_HUMAN	T	302;256;160	ENSP00000317579:R302T;ENSP00000398074:R160T	ENSP00000317579:R302T	R	-	2	0	C16orf58	31412478	0.000000	0.05858	0.793000	0.32043	0.967000	0.64934	0.072000	0.14617	-0.040000	0.13580	0.563000	0.77884	AGG		0.632	C16orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255629.2	NM_022744		10	58	0	0	0	0.000978	0	10	58					G	31504977	C	G	31504977	3	3	11	1	0	0	0	0	1	0	0	0	1822	681	24	4	525	4	C16orf58	16	31504977	Missense_Mutation	SNP	C	TCGA-BJ-A0ZF-01A-11D-A10S-08	27095608	31504977	58849776	26	371											
UBB	7314	broad.mit.edu	37	chr17	16285560	16285560	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggataaagaaggcatcccTcccgaccagcagaggctcat	10	13	1	2			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr17:16285560T>C	ENST00000395837.1	+	2	520	c.339T>C	c.(337-339)ccT>ccC	p.P113P	UBB_ENST00000578649.1_Intron|UBB_ENST00000302182.3_Silent_p.P113P|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395839.1_Silent_p.P113P|UBB_ENST00000535788.1_Intron	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	113	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|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)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|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)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|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)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCTCCCGACCAGC	0.557																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(337-339)ccT>ccC		ubiquitin B							115	112	113					17																	16285560		2203	4300	6503	SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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 ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285560T>C		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.339T>C	17.37:g.16285560T>C						RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395837.1_Silent_p.P113P|UBB_ENST00000395839.1_Silent_p.P113P|UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron	p.P113P	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	731	+			113			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.339T>C	CCDS11177.1																																																																																				0.557	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		4	197	0	0	0	0.000248	0	4	197					C	16285560	T	C	16285560	2	2	11	1	0	0	0	0	0	0	0	1	16838	1538	54	3		3	UBB	17	16285560	Silent	SNP	T	TCGA-BJ-A0ZF-01A-11D-A10S-08		16285560	64909650	27	372											
GOSR1	9527	broad.mit.edu	37	chr17	28811716	28811716	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gataaaatggcagaatatacCaacagtgcaggtgtcccctc	9	10	0	1			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr17:28811716C>T	ENST00000225724.5	+	4	348	c.276C>T	c.(274-276)acC>acT	p.T92T	GOSR1_ENST00000581721.1_Silent_p.T92T|GOSR1_ENST00000451249.2_Silent_p.T90T|GOSR1_ENST00000467337.2_Silent_p.T27T	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1	92					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						CAGAATATACCAACAGTGCAG	0.363																																						ENST00000225724.5																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						c.(274-276)acC>acT		golgi SNAP receptor complex member 1							77	73	75					17																	28811716		2203	4300	6503	SO:0001819	synonymous_variant	9527				intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|SNARE complex	SNAP receptor activity	g.chr17:28811716C>T	AF047438	CCDS11258.1, CCDS45643.1, CCDS45644.1	17q11	2011-04-15			ENSG00000108587	ENSG00000108587			4430	protein-coding gene	gene with protein product	"golgi integral membrane protein 2"	604026				8638159, 9653160, 15004235	Standard	XM_005258072		Approved	GOS28, P28, GS28, GOS-28, GOLIM2	uc002hfe.3	O95249	OTTHUMG00000132796	ENST00000225724.5:c.276C>T	17.37:g.28811716C>T						GOSR1_ENST00000467337.2_Silent_p.T27T|GOSR1_ENST00000451249.2_Silent_p.T90T|GOSR1_ENST00000581721.1_Silent_p.T92T	p.T92T	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN			4	348	+			92					J3KST5|O75392	Silent	SNP	ENST00000225724.5	37	c.276C>T	CCDS11258.1																																																																																				0.363	GOSR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256208.2			12	70	0	0	0	0.001368	0	12	70					T	28811716	C	T	28811716	2	4	11	1	0	0	0	0	0	0	0	1	6577	581	21	2		2	GOSR1	17	28811716	Silent	SNP	C	TCGA-BJ-A0ZF-01A-11D-A10S-08	12526156	28811716	52383494	28	373											
NDC80	10403	broad.mit.edu	37	chr18	2599022	2599022	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttctgttcttacagattgAaacacaattagcagagtatc	7	7	2	3			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr18:2599022A>G	ENST00000261597.4	+	12	1408	c.1226A>G	c.(1225-1227)gAa>gGa	p.E409G		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	409	Interaction with NEK2 and ZWINT.|Interaction with PSMC2 and SMC1A.|Interaction with SMC1A.|Interaction with the N-terminus of CDCA1.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						TTACAGATTGAAACACAATTA	0.289																																						ENST00000261597.4																			0				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						c.(1225-1227)gAa>gGa		NDC80 kinetochore complex component							75	77	76					18																	2599022		2203	4299	6502	SO:0001583	missense	10403				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding	g.chr18:2599022A>G	AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"highly expressed in cancer, rich in leucine heptad repeats (yeast)", "kinetochore associated 2", "NDC80 kinetochore complex component homolog (S. cerevisiae)"	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.1226A>G	18.37:g.2599022A>G	ENSP00000261597:p.Glu409Gly						p.E409G	NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN			12	1408	+			409			Interaction with NEK2 and ZWINT.|Interaction with PSMC2 and SMC1A.|Interaction with SMC1A.|Interaction with the N-terminus of CDCA1.		Q6PJX2	Missense_Mutation	SNP	ENST00000261597.4	37	c.1226A>G	CCDS11827.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.936491	0.73442	.	.	ENSG00000080986	ENST00000261597;ENST00000543946	T	0.53857	0.6	5.4	5.4	0.78164	.	0.042903	0.85682	D	0.000000	T	0.70290	0.3207	M	0.66939	2.045	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	T	0.71227	-0.4655	10	0.46703	T	0.11	-14.9739	15.7272	0.77770	1.0:0.0:0.0:0.0	.	409	O14777	NDC80_HUMAN	G	409	ENSP00000261597:E409G	ENSP00000261597:E409G	E	+	2	0	NDC80	2589022	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.758000	0.85224	2.176000	0.68965	0.528000	0.53228	GAA		0.289	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254327.1	NM_006101		35	69	0	0	0	0.002836	0	35	69					G	2599022	A	G	2599022	3	3	11	1	0	0	0	0	1	0	0	0	10242	246	9	3	1268	3	NDC80	18	2599022	Missense_Mutation	SNP	A	TCGA-BJ-A0ZF-01A-11D-A10S-08		2599022	75478226	29	374											
SUV420H2	84787	broad.mit.edu	37	chr19	55853326	55853326	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggcccgacagagtgacaGcacgagaactgtgcgagaac	15	10	0	4			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr19:55853326G>A	ENST00000255613.3	+	2	270	c.22G>A	c.(22-24)Gca>Aca	p.A8T	AC020922.1_ENST00000539076.1_5'UTR|SUV420H2_ENST00000402499.4_3'UTR	NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	8					histone H4-K20 trimethylation (GO:0034773)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CAGAGTGACAGCACGAGAACT	0.652																																						ENST00000255613.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4						c.(22-24)Gca>Aca		suppressor of variegation 4-20 homolog 2 (Drosophila)							107	92	97					19																	55853326		2203	4300	6503	SO:0001583	missense	84787				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr19:55853326G>A	BC005842	CCDS12922.1	19q13.42	2011-07-01			ENSG00000133247	ENSG00000133247		"Chromatin-modifying enzymes / K-methyltransferases"	28405	protein-coding gene	gene with protein product		613198				12477932	Standard	NM_032701		Approved	MGC2705, KMT5C	uc002qkj.4	Q86Y97	OTTHUMG00000150483	ENST00000255613.3:c.22G>A	19.37:g.55853326G>A	ENSP00000255613:p.Ala8Thr					AC020922.1_ENST00000539076.1_5'UTR|SUV420H2_ENST00000402499.4_3'UTR	p.A8T	NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	2	270	+	Breast(117;0.191)		8					Q8WZ10|Q9BRZ6	Missense_Mutation	SNP	ENST00000255613.3	37	c.22G>A	CCDS12922.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.331912	0.81801	.	.	ENSG00000133247	ENST00000255613;ENST00000402499	.	.	.	3.35	2.29	0.28610	.	0.100342	0.38436	N	0.001683	T	0.65302	0.2678	L	0.49126	1.545	0.46279	D	0.998962	D	0.76494	0.999	D	0.63488	0.915	T	0.65776	-0.6086	9	0.51188	T	0.08	0.7173	11.485	0.50348	0.0:0.0:0.8176:0.1823	.	8	Q86Y97	SV422_HUMAN	T	8	.	ENSP00000255613:A8T	A	+	1	0	SUV420H2	60545138	1.000000	0.71417	0.964000	0.40570	0.765000	0.43378	7.043000	0.76572	0.945000	0.37605	-0.311000	0.09066	GCA		0.652	SUV420H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318309.2	NM_032701		9	143	0	0	0	0.006214	0	9	143					A	55853326	G	A	55853326	3	1	11	1	0	0	0	0	1	0	0	0	15412	971	34	2	24	2	SUV420H2	19	55853326	Missense_Mutation	SNP	G	TCGA-BJ-A0ZF-01A-11D-A10S-08		55853326	3275657	30	375											
ITSN1	6453	broad.mit.edu	37	chr21	35255856	35255856	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtgttactttccagccTattttcctaaatgaggttct	7	9	1	1			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr21:35255856T>C	ENST00000381318.3	+	36	4845	c.4557T>C	c.(4555-4557)ccT>ccC	p.P1519P	ITSN1_ENST00000381285.4_Silent_p.P1519P|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000437442.2_Silent_p.P1458P|ITSN1_ENST00000399367.3_Silent_p.P1514P|AP000304.12_ENST00000429238.1_Intron	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1519	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CTTTCCAGCCTATTTTCCTAA	0.498																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(4555-4557)ccT>ccC		intersectin 1 (SH3 domain protein)							134	142	139					21																	35255856		2203	4300	6503	SO:0001819	synonymous_variant	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35255856T>C	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.4557T>C	21.37:g.35255856T>C						ITSN1_ENST00000399367.3_Silent_p.P1514P|ITSN1_ENST00000437442.2_Silent_p.P1458P|ITSN1_ENST00000381285.4_Silent_p.P1519P|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399326.3_3'UTR	p.P1519P	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			36	4845	+			1519			PH.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Silent	SNP	ENST00000381318.3	37	c.4557T>C	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	T	10.65	1.411007	0.25465	.	.	ENSG00000205726	ENST00000381284	.	.	.	5.75	-0.817	0.10836	.	.	.	.	.	T	0.43743	0.1261	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23226	-1.0194	4	.	.	.	.	4.0636	0.09849	0.1366:0.5421:0.1384:0.183	.	.	.	.	H	199	.	.	Y	+	1	0	ITSN1	34177726	0.006000	0.16342	0.991000	0.47740	0.860000	0.49131	-1.212000	0.02994	-0.375000	0.07955	0.528000	0.53228	TAT		0.498	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		3	243	0	0	0	0.004672	0	3	243					C	35255856	T	C	35255856	2	2	11	1	0	0	0	0	0	0	0	1	7926	1509	53	3		3	ITSN1	21	35255856	Silent	SNP	T	TCGA-BJ-A0ZF-01A-11D-A10S-08		35255856	12874039	31	376											
PPARA	5465	broad.mit.edu	37	chr22	46627935	46627935	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttatgaggccatattcgccAtgctgtcttctgtgatgaac	9	9	2	3			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr22:46627935A>G	ENST00000396000.2	+	7	1223	c.958A>G	c.(958-960)Atg>Gtg	p.M320V	PPARA_ENST00000434345.2_3'UTR|PPARA_ENST00000407236.1_Missense_Mutation_p.M320V|PPARA_ENST00000262735.5_Missense_Mutation_p.M320V|PPARA_ENST00000402126.1_Missense_Mutation_p.M320V			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	320	Ligand-binding.|Required for heterodimerization with RXRA.				behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|lipid binding (GO:0008289)|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)|RNA polymerase II repressing transcription factor binding (GO:0001103)|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)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)	CATATTCGCCATGCTGTCTTC	0.463																																						ENST00000396000.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(958-960)Atg>Gtg		peroxisome proliferator-activated receptor alpha	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)						153	138	143					22																	46627935		2203	4300	6503	SO:0001583	missense	5465				fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding	g.chr22:46627935A>G	L02932	CCDS33669.1	22q12-q13.1	2013-01-16	2006-10-17		ENSG00000186951	ENSG00000186951		"Nuclear hormone receptors"	9232	protein-coding gene	gene with protein product		170998	"peroxisome proliferative activated receptor, alpha"	PPAR		7684926, 10591208	Standard	XM_005261655		Approved	hPPAR, NR1C1	uc003bgx.1	Q07869	OTTHUMG00000150443	ENST00000396000.2:c.958A>G	22.37:g.46627935A>G	ENSP00000379322:p.Met320Val					PPARA_ENST00000402126.1_Missense_Mutation_p.M320V|PPARA_ENST00000407236.1_Missense_Mutation_p.M320V|PPARA_ENST00000434345.2_3'UTR|PPARA_ENST00000262735.5_Missense_Mutation_p.M320V	p.M320V			Q07869	PPARA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	7	1223	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	320			Ligand-binding.|Required for heterodimerization with RXRA.		B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	Missense_Mutation	SNP	ENST00000396000.2	37	c.958A>G	CCDS33669.1	.	.	.	.	.	.	.	.	.	.	A	12.05	1.822861	0.32237	.	.	ENSG00000186951	ENST00000396000;ENST00000262735;ENST00000535613;ENST00000407236;ENST00000402126	D;D;D;D	0.96685	-4.09;-4.09;-4.09;-4.09	5.48	5.48	0.80851	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.073333	0.85682	D	0.000000	D	0.94719	0.8296	M	0.67953	2.075	0.80722	D	1	B;B	0.31611	0.021;0.331	B;B	0.28011	0.016;0.085	D	0.93563	0.6897	10	0.37606	T	0.19	.	14.7735	0.69699	1.0:0.0:0.0:0.0	.	101;320	F5H1U1;Q07869	.;PPARA_HUMAN	V	320;320;101;320;320	ENSP00000379322:M320V;ENSP00000262735:M320V;ENSP00000385523:M320V;ENSP00000385246:M320V	ENSP00000262735:M320V	M	+	1	0	PPARA	45006599	0.998000	0.40836	0.910000	0.35882	0.666000	0.39218	3.914000	0.56401	2.084000	0.62774	0.533000	0.62120	ATG		0.463	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318129.3	NM_001001928		14	231	0	0	0	0.004007	0	14	231					G	46627935	A	G	46627935	3	3	11	1	0	0	0	0	1	0	0	0	12297	217	8	3	976	3	PPARA	22	46627935	Missense_Mutation	SNP	A	TCGA-BJ-A0ZF-01A-11D-A10S-08		46627935	4676631	32	377											
VCX3B	425054	broad.mit.edu	37	chrX	8434047	8434076	+	In_Frame_Del	DEL	GAACCACTGAGTCAGGAGAGCCAGGTGGAG	GAACCACTGAGTCAGGAGAGCCAGGTGGAG	-													gtcaggagagcgaggtggaaGaaccactgagtcaggagagc					rs5978241|rs5978242		TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chrX:8434047_8434076delGAACCACTGAGTCAGGAGAGCCAGGTGGAG	ENST00000381032.1	+	3	671_700	c.364_393delGAACCACTGAGTCAGGAGAGCCAGGTGGAG	c.(364-393)gaaccactgagtcaggagagccaggtggagdel	p.EPLSQESQVE122del	VCX3B_ENST00000381029.4_In_Frame_Del_p.EPLSQESQVE100del|VCX3B_ENST00000444481.1_Splice_Site_p.EPLSQESQ122del|VCX3B_ENST00000440654.2_Intron|VCX3B_ENST00000453306.1_In_Frame_Del_p.EPLSQESQVE122del	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	122	14 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.					nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						CGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGA	0.622																																						ENST00000381032.1																			0				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						c.(364-393)del		variable charge, X-linked 3B																																				SO:0001651	inframe_deletion	0					nucleolus		g.chrX:8434047_8434076delGAACCACTGAGTCAGGAGAGCCAGGTGGAG		CCDS48077.1, CCDS48077.2	Xp22.31	2009-01-14			ENSG00000205642	ENSG00000205642			31838	protein-coding gene	gene with protein product							Standard	NM_001001888		Approved	VCX-C	uc011mht.2	Q9H321	OTTHUMG00000021106	ENST00000381032.1:c.364_393delGAACCACTGAGTCAGGAGAGCCAGGTGGAG	X.37:g.8434047_8434076delGAACCACTGAGTCAGGAGAGCCAGGTGGAG	ENSP00000370420:p.Glu122_Glu131del					VCX3B_ENST00000453306.1_In_Frame_Del_p.EPLSQESQVE122del|VCX3B_ENST00000381029.4_In_Frame_Del_p.EPLSQESQVE100del|VCX3B_ENST00000444481.1_Splice_Site_p.122_splice|VCX3B_ENST00000440654.2_Intron	p.EPLSQESQVE122del	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN			3	671_700	+			122			11 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.		C9JS46|Q4KN12	In_Frame_Del	DEL	ENST00000381032.1	37	c.364_393delGAACCACTGAGTCAGGAGAGCCAGGTGGAG	CCDS48077.2																																																																																				0.622	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055691.1			8	52						8	52	---	---	---	---	-	8434076	GAACCACTGAGTCAGGAGAGCCAGGTGGAG	-	8434047	7	5	11	1	0	1	0	1	0	0	0	0	17142	943	33	0	370	0	VCX3B	23	8434047	In_Frame_Del	DEL	GAACCACTGAGTCAGGAGAGCCAGGTGGAG	TCGA-BJ-A0ZF-01A-11D-A10S-08		8434047	146836513	33	378											
MAGEE1	57692	broad.mit.edu	37	chrX	75650162	75650162	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctggaggatgggggtgcaGcgggaaaggaggctttccat	18	7	1	0			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chrX:75650162G>A	ENST00000361470.2	+	1	2117	c.1839G>A	c.(1837-1839)caG>caA	p.Q613Q		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	613	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						TGGGGGTGCAGCGGGAAAGGA	0.493																																						ENST00000361470.2																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						c.(1837-1839)caG>caA		melanoma antigen family E, 1							51	46	48					X																	75650162		2203	4300	6503	SO:0001819	synonymous_variant	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75650162G>A	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.1839G>A	X.37:g.75650162G>A							p.Q613Q	NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN			1	2117	+			613			MAGE 1.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Silent	SNP	ENST00000361470.2	37	c.1839G>A	CCDS14433.1																																																																																				0.493	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		6	84	0	0	0	0.001168	0	6	84					A	75650162	G	A	75650162	2	1	11	1	0	0	0	0	0	0	0	1	9185	962	34	2		2	MAGEE1	23	75650162	Silent	SNP	G	TCGA-BJ-A0ZF-01A-11D-A10S-08	67216115	75650162	79620398	34	379											
CDK11A	728642	broad.mit.edu	37	chr1	1635515	1635515	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctctggggcgcggtaccacTgggtcaccacgaccggggtg	17	13	2	0	rs56410233	byFrequency	TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr1:1635515T>A	ENST00000378633.1	-	16	1845	c.1766A>T	c.(1765-1767)cAg>cTg	p.Q589L	CDK11A_ENST00000356200.3_Missense_Mutation_p.Q552L|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000495016.1_Intron|CDK11A_ENST00000378638.2_Missense_Mutation_p.Q552L|CDK11A_ENST00000357760.2_Missense_Mutation_p.Q585L|CDK11A_ENST00000358779.5_Missense_Mutation_p.Q576L|CDK11A_ENST00000404249.3_Missense_Mutation_p.Q586L			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	589	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.Q585L(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						GCGGTACCACTGGGTCACCAC	0.672													-|||	2	0.000399361	0	0	5008	,	,		14204	0		0.002	False		,,,				2504	0				Pancreas(186;965 2119 30274 40311 50569)	ENST00000356200.3																			1	Substitution - Missense(1)	p.Q585L(1)	kidney(1)	central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						c.(1654-1656)cAg>cTg		cyclin-dependent kinase 11A		A	LEU/GLN,LEU/GLN	6,4104		0,6,2049	33	40	38		1757,1727	-2.1	0.0	1	dbSNP_129	38	19,8351		0,19,4166	no	missense,missense	CDK11A	NM_024011.2,NM_033529.2	113,113	0,25,6215	AA,AT,TT		0.227,0.146,0.2003	,	586/781,576/771	1635515	25,12455	2055	4185	6240	SO:0001583	missense	728642							g.chr1:1635515T>A	AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"Cyclin-dependent kinases"	1730	protein-coding gene	gene with protein product		116951	"cell division cycle 2-like 2", "cell division cycle 2-like 2 (PITSLRE proteins)"	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.1766A>T	1.37:g.1635515T>A	ENSP00000367900:p.Gln589Leu					CDK11A_ENST00000357760.2_Missense_Mutation_p.Q585L|CDK11A_ENST00000495016.1_Intron|CDK11A_ENST00000358779.5_Missense_Mutation_p.Q576L|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378638.2_Missense_Mutation_p.Q552L|CDK11A_ENST00000404249.3_Missense_Mutation_p.Q586L|CDK11A_ENST00000378633.1_Missense_Mutation_p.Q589L	p.Q552L							15	1889	-								O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	Missense_Mutation	SNP	ENST00000378633.1	37	c.1655A>T		.	.	.	.	.	.	.	.	.	.	-	0.011	-1.706399	0.00719	0.00146	0.00227	ENSG00000008128	ENST00000356200;ENST00000404249;ENST00000357760;ENST00000358779;ENST00000378633;ENST00000378638;ENST00000378630	T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.16	2.65	-2.14	0.07123	.	0.064020	0.64402	N	0.000005	T	0.04227	0.0117	N	0.00095	-2.16	0.58432	D	0.999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.38779	-0.9645	10	0.02654	T	1	.	1.7711	0.03012	0.422:0.3228:0.0985:0.1567	rs56410233	586;576;203	Q9UQ88-2;Q9UQ88-4;Q9UQ88-5	.;.;.	L	552;586;585;576;589;552;552	ENSP00000348529:Q552L;ENSP00000384442:Q586L;ENSP00000350403:Q585L;ENSP00000351629:Q576L;ENSP00000367900:Q589L;ENSP00000367905:Q552L	ENSP00000348529:Q552L	Q	-	2	0	CDK11A	1625375	0.274000	0.24191	0.023000	0.16930	0.002000	0.02628	2.316000	0.43761	-1.145000	0.02858	-2.430000	0.00215	CAG		0.672	CDK11A-005	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000001735.1	NM_024011		4	43	0	0	0	0.184627	0	4	43					A	1635515	T	A	1635515	3	1	12	1	0	0	0	0	1	0	0	0	3126	1580	55	5	605	5	CDK11A	1	1635515	Missense_Mutation	SNP	T	TCGA-BJ-A0ZG-01A-11D-A10S-08		1635515	247615106	1	380											
GOLGA4	2803	broad.mit.edu	37	chr3	37368937	37368937	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taacctgtcagattttggagCaaaagataaaagagctggat	10	5	1	3			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr3:37368937C>A	ENST00000361924.2	+	14	5934	c.5560C>A	c.(5560-5562)Caa>Aaa	p.Q1854K	GOLGA4_ENST00000356847.4_Missense_Mutation_p.Q1876K|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1854	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GATTTTGGAGCAAAAGATAAA	0.373																																						ENST00000361924.2																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(5560-5562)Caa>Aaa		golgin A4							55	57	56					3																	37368937		2203	4297	6500	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37368937C>A	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.5560C>A	3.37:g.37368937C>A	ENSP00000354486:p.Gln1854Lys					GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.Q1876K	p.Q1854K	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN			14	5934	+			1854			Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.5560C>A	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695564	0.48202	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.23950	1.88;1.88;1.88	4.71	3.8	0.43715	.	0.269278	0.19838	N	0.104906	T	0.26011	0.0634	M	0.67953	2.075	0.33420	D	0.579738	B;B;B;P	0.35612	0.4;0.4;0.4;0.512	B;B;B;B	0.36464	0.225;0.225;0.225;0.15	T	0.27606	-1.0069	10	0.21014	T	0.42	.	9.9831	0.41826	0.155:0.6954:0.1496:0.0	.	1854;1854;1876;1854	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	K	1854;1876;1725	ENSP00000354486:Q1854K;ENSP00000349305:Q1876K;ENSP00000405842:Q1725K	ENSP00000349305:Q1876K	Q	+	1	0	GOLGA4	37343941	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	1.994000	0.40757	2.168000	0.68352	0.549000	0.68633	CAA		0.373	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		4	98	1	0	0.00909568	0.150653	0.0107494	4	98					A	37368937	C	A	37368937	3	1	12	1	0	0	0	0	1	0	0	0	6555	711	25	4	5684	4	GOLGA4	3	37368937	Missense_Mutation	SNP	C	TCGA-BJ-A0ZG-01A-11D-A10S-08		37368937	160653493	2	381											
TTC14	151613	broad.mit.edu	37	chr3	180324339	180324339	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cattagaaaactgtccaactCacagaaatgcaagaaaatac	5	9	1	3			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr3:180324339C>G	ENST00000296015.4	+	9	1252	c.1120C>G	c.(1120-1122)Cac>Gac	p.H374D	TTC14_ENST00000382584.4_Missense_Mutation_p.H374D|TTC14_ENST00000412756.2_Missense_Mutation_p.H374D	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	374							RNA binding (GO:0003723)			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CTGTCCAACTCACAGAAATGC	0.383																																						ENST00000412756.2																			0				endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45						c.(1120-1122)Cac>Gac		tetratricopeptide repeat domain 14							119	127	124					3																	180324339		2203	4300	6503	SO:0001583	missense	151613						RNA binding	g.chr3:180324339C>G	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"Tetratricopeptide (TTC) repeat domain containing"	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.1120C>G	3.37:g.180324339C>G	ENSP00000296015:p.His374Asp					TTC14_ENST00000382584.4_Missense_Mutation_p.H374D|TTC14_ENST00000296015.4_Missense_Mutation_p.H374D	p.H374D	NM_001042601.2	NP_001036066.1	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		9	1189	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		374					G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	ENST00000296015.4	37	c.1120C>G	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.859364	0.91433	.	.	ENSG00000163728	ENST00000296015;ENST00000412756;ENST00000382584	T;T;T	0.72942	-0.7;-0.7;-0.7	5.93	5.93	0.95920	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.85927	0.5811	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.995	D;D;P	0.91635	0.999;0.999;0.82	D	0.85721	0.1325	10	0.56958	D	0.05	-9.1635	20.3465	0.98790	0.0:1.0:0.0:0.0	.	374;374;374	Q96N46-2;G5E9X0;Q96N46	.;.;TTC14_HUMAN	D	374	ENSP00000296015:H374D;ENSP00000413743:H374D;ENSP00000372027:H374D	ENSP00000296015:H374D	H	+	1	0	TTC14	181807033	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.625000	0.83145	2.798000	0.96311	0.655000	0.94253	CAC		0.383	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		4	196	0	0	0	0.150653	0	4	196					G	180324339	C	G	180324339	3	3	12	1	0	0	0	0	1	0	0	0	16678	826	29	4	1154	4	TTC14	3	180324339	Missense_Mutation	SNP	C	TCGA-BJ-A0ZG-01A-11D-A10S-08	142955402	180324339	17698091	3	382											
CPE	1363	broad.mit.edu	37	chr4	166403472	166403472	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgccaatctccatggaggaGaccttgtggccaattatcca	9	12	1	1			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr4:166403472G>A	ENST00000402744.4	+	4	1031	c.751G>A	c.(751-753)Gac>Aac	p.D251N		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	251					cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)	carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	CCATGGAGGAGACCTTGTGGC	0.403																																						ENST00000402744.4																			0				endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(751-753)Gac>Aac		carboxypeptidase E	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						174	155	161					4																	166403472		2203	4300	6503	SO:0001583	missense	1363				cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding	g.chr4:166403472G>A	X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	3.4.17.10		2303	protein-coding gene	gene with protein product	"carboxypeptidase H", "enkephalin convertase", "insulin granule-associated carboxypeptidase", "cobalt-stimulated chromaffin granule carboxypeptidase"	114855				2334405	Standard	NM_001873		Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.751G>A	4.37:g.166403472G>A	ENSP00000386104:p.Asp251Asn						p.D251N	NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN		GBM - Glioblastoma multiforme(119;0.137)	4	1031	+	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)	251					A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Missense_Mutation	SNP	ENST00000402744.4	37	c.751G>A	CCDS3810.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796907	0.70567	.	.	ENSG00000109472	ENST00000513982;ENST00000402744;ENST00000261510;ENST00000431967;ENST00000511992	T;T;T;T	0.12039	2.72;2.72;2.72;2.72	5.43	5.43	0.79202	Peptidase M14, carboxypeptidase A (4);	0.000000	0.85682	D	0.000000	T	0.43100	0.1232	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.40664	-0.9551	10	0.72032	D	0.01	-11.06	19.2265	0.93820	0.0:0.0:1.0:0.0	.	251	P16870	CBPE_HUMAN	N	139;251;215;139;139	ENSP00000424830:D139N;ENSP00000386104:D251N;ENSP00000416601:D139N;ENSP00000423699:D139N	ENSP00000261510:D215N	D	+	1	0	CPE	166622922	1.000000	0.71417	1.000000	0.80357	0.087000	0.18053	7.574000	0.82434	2.531000	0.85337	0.650000	0.86243	GAC		0.403	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	NM_001873		4	151	0	0	0	0.150653	0	4	151					A	166403472	G	A	166403472	3	1	12	1	0	0	0	0	1	0	0	0	3799	942	33	2	765	2	CPE	4	166403472	Missense_Mutation	SNP	G	TCGA-BJ-A0ZG-01A-11D-A10S-08		166403472	24750804	4	383											
MICAL1	64780	broad.mit.edu	37	chr6	109769507	109769507	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacggcctgtgcagacaccAccggtgtgatgcccagctca	11	16	1	2			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr6:109769507A>G	ENST00000358807.3	-	13	2065	c.1754T>C	c.(1753-1755)gTg>gCg	p.V585A	MICAL1_ENST00000358577.3_Missense_Mutation_p.V499A|MICAL1_ENST00000368952.4_Missense_Mutation_p.V604A	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	585	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)		TGCAGACACCACCGGTGTGAT	0.607																																						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.(1810-1812)gTg>gCg		microtubule associated monooxygenase, calponin and LIM domain containing 1							173	161	165					6																	109769507		2203	4300	6503	SO:0001583	missense	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109769507A>G	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.1754T>C	6.37:g.109769507A>G	ENSP00000351664:p.Val585Ala					MICAL1_ENST00000358807.3_Missense_Mutation_p.V585A|MICAL1_ENST00000358577.3_Missense_Mutation_p.V499A	p.V604A			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)	13	2101	-		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)	585			CH.		B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	c.1811T>C	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	A	18.91	3.724524	0.68959	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957	D;D;D	0.95482	-3.72;-3.72;-3.72	5.38	5.38	0.77491	Calponin homology domain (5);	0.148043	0.45361	D	0.000380	D	0.95778	0.8626	M	0.75085	2.285	0.38677	D	0.952446	B;B;B	0.28291	0.172;0.172;0.206	P;B;P	0.46940	0.45;0.397;0.532	D	0.96032	0.9017	10	0.66056	D	0.02	.	13.3412	0.60545	1.0:0.0:0.0:0.0	.	604;499;585	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	A	585;604;499;109	ENSP00000351664:V585A;ENSP00000357948:V604A;ENSP00000351385:V499A	ENSP00000351385:V499A	V	-	2	0	MICAL1	109876200	0.994000	0.37717	0.329000	0.25429	0.850000	0.48378	6.901000	0.75693	2.044000	0.60594	0.459000	0.35465	GTG		0.607	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		7	392	0	0	0	0.335167	0	7	392					G	109769507	A	G	109769507	3	3	12	1	0	0	0	0	1	0	0	0	9569	159	6	3	1501	3	MICAL1	6	109769507	Missense_Mutation	SNP	A	TCGA-BJ-A0ZG-01A-11D-A10S-08		109769507	61345560	5	384											
AVL9	23080	broad.mit.edu	37	chr7	32598232	32598232	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgatgactgtgttatcccTttttccaggtaagaaaacag	8	8	0	3			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr7:32598232T>C	ENST00000318709.4	+	9	892	c.671T>C	c.(670-672)cTt>cCt	p.L224P	AVL9_ENST00000409301.1_Missense_Mutation_p.L224P|AVL9_ENST00000404479.1_Missense_Mutation_p.L224P	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	224					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GTGTTATCCCTTTTTCCAGGT	0.328																																						ENST00000318709.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(670-672)cTt>cCt		AVL9 homolog (S. cerevisiase)							111	111	111					7																	32598232		2203	4300	6503	SO:0001583	missense	23080					integral to membrane		g.chr7:32598232T>C	D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"KIAA0241"	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.671T>C	7.37:g.32598232T>C	ENSP00000315568:p.Leu224Pro					AVL9_ENST00000409301.1_Missense_Mutation_p.L224P|AVL9_ENST00000404479.1_Missense_Mutation_p.L224P	p.L224P	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN			9	892	+			224					Q92573	Missense_Mutation	SNP	ENST00000318709.4	37	c.671T>C	CCDS34613.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.366848	0.82463	.	.	ENSG00000105778	ENST00000318709;ENST00000409301;ENST00000329714;ENST00000404479;ENST00000446718	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.84638	0.5516	M	0.89534	3.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.78314	0.983;0.991;0.946	D	0.88174	0.2866	10	0.87932	D	0	-27.2944	15.2208	0.73310	0.0:0.0:0.0:1.0	.	224;224;224	Q8N6Z3;Q8NBF6-2;Q8NBF6	.;.;AVL9_HUMAN	P	224;224;224;224;155	ENSP00000315568:L224P;ENSP00000387011:L224P;ENSP00000385242:L224P;ENSP00000395134:L155P	ENSP00000315568:L224P	L	+	2	0	AVL9	32564757	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.632000	0.61311	2.006000	0.58801	0.477000	0.44152	CTT		0.328	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060		3	174	0	0	0	0.115264	0	3	174					C	32598232	T	C	32598232	3	2	12	1	0	0	0	0	1	0	0	0	1228	1609	56	3	705	3	AVL9	7	32598232	Missense_Mutation	SNP	T	TCGA-BJ-A0ZG-01A-11D-A10S-08		32598232	126540431	6	385											
GNGT1	2792	broad.mit.edu	37	chr7	93540201	93540201	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aggacaaaaatcccttcaagGagctcaaaggaggctgtgtg	12	8	2	0			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr7:93540201G>C	ENST00000248572.5	+	3	344	c.196G>C	c.(196-198)Gag>Cag	p.E66Q	GNGT1_ENST00000455502.1_3'UTR|GNGT1_ENST00000429473.1_Missense_Mutation_p.E66Q	NM_021955.3	NP_068774.1	P63211	GBG1_HUMAN	guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1	66					cardiac muscle cell apoptotic process (GO:0010659)|cellular response to hypoxia (GO:0071456)|eye photoreceptor cell development (GO:0042462)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	heterotrimeric G-protein complex (GO:0005834)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			TCCCTTCAAGGAGCTCAAAGG	0.348																																						ENST00000248572.5																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6						c.(196-198)Gag>Cag		guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1							61	59	60					7																	93540201		2203	4300	6503	SO:0001583	missense	2792				G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity	g.chr7:93540201G>C		CCDS5633.1	7q21.3	2008-07-18			ENSG00000127928	ENSG00000127928			4411	protein-coding gene	gene with protein product		189970				8661128	Standard	NM_021955		Approved	GNG1	uc003unc.1	P63211	OTTHUMG00000022908	ENST00000248572.5:c.196G>C	7.37:g.93540201G>C	ENSP00000248572:p.Glu66Gln					GNGT1_ENST00000429473.1_Missense_Mutation_p.E66Q|GNGT1_ENST00000455502.1_3'UTR	p.E66Q	NM_021955.3	NP_068774.1	P63211	GBG1_HUMAN	STAD - Stomach adenocarcinoma(171;0.000967)		3	344	+	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		66					A4D1H2|O43835|Q08447|Q16026|Q6LCP6	Missense_Mutation	SNP	ENST00000248572.5	37	c.196G>C	CCDS5633.1	.	.	.	.	.	.	.	.	.	.	G	31	5.082844	0.94050	.	.	ENSG00000127928	ENST00000248572;ENST00000429473	T;T	0.35789	1.29;1.29	5.75	5.75	0.90469	G-protein gamma domain (5);	0.000000	0.85682	D	0.000000	T	0.64057	0.2564	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.64956	-0.6285	9	0.66056	D	0.02	-33.4741	19.0975	0.93258	0.0:0.0:1.0:0.0	.	66	P63211	GBG1_HUMAN	Q	66	ENSP00000248572:E66Q;ENSP00000388777:E66Q	ENSP00000248572:E66Q	E	+	1	0	GNGT1	93378137	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.582000	0.90791	2.885000	0.99019	0.655000	0.94253	GAG		0.348	GNGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254718.2	NM_021955		5	84	0	0	0	0.184627	0	5	84					C	93540201	G	C	93540201	3	2	12	1	0	0	0	0	1	0	0	0	6533	1175	41	4	202	4	GNGT1	7	93540201	Missense_Mutation	SNP	G	TCGA-BJ-A0ZG-01A-11D-A10S-08	60941969	93540201	65598462	7	386											
PPP1R3B	79660	broad.mit.edu	37	chr8	8998408	8998408	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcaaaggatattcccaAatccggtccactgtggggct	11	11	1	0			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr8:8998408A>T	ENST00000310455.3	-	2	904	c.754T>A	c.(754-756)Ttg>Atg	p.L252M	PPP1R3B_ENST00000519699.1_Missense_Mutation_p.L252M|RP11-10A14.3_ENST00000520017.1_RNA|RP11-10A14.3_ENST00000522057.1_RNA	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	252					glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase regulator activity (GO:0019888)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		GATATTCCCAAATCCGGTCCA	0.498																																						ENST00000310455.3																			0				endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12						c.(754-756)Ttg>Atg		protein phosphatase 1, regulatory subunit 3B							160	157	158					8																	8998408		2203	4300	6503	SO:0001583	missense	79660				glycogen metabolic process			g.chr8:8998408A>T	AK024067	CCDS5973.1	8p23.1	2012-04-17	2011-10-04		ENSG00000173281	ENSG00000173281		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14942	protein-coding gene	gene with protein product	"PP1 subunit R4", "hepatic glycogen-targeting subunit, G(L)"	610541	"protein phosphatase 1, regulatory (inhibitor) subunit 3B"			11948623, 17555403	Standard	NM_024607		Approved	GL, FLJ14005, PPP1R4	uc003wsn.4	Q86XI6	OTTHUMG00000129329	ENST00000310455.3:c.754T>A	8.37:g.8998408A>T	ENSP00000308318:p.Leu252Met					PPP1R3B_ENST00000519699.1_Missense_Mutation_p.L252M	p.L252M	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN		COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)	2	904	-			252					B3KTV3|Q9H812	Missense_Mutation	SNP	ENST00000310455.3	37	c.754T>A	CCDS5973.1	.	.	.	.	.	.	.	.	.	.	A	10.27	1.303228	0.23736	.	.	ENSG00000173281	ENST00000310455;ENST00000519699	T;T	0.46451	0.87;0.87	5.93	2.03	0.26663	.	1.025670	0.07688	N	0.938312	T	0.28995	0.0720	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20538	-1.0272	10	0.30854	T	0.27	-7.3538	5.6581	0.17654	0.706:0.143:0.151:0.0	.	252	Q86XI6	PPR3B_HUMAN	M	252	ENSP00000308318:L252M;ENSP00000428642:L252M	ENSP00000308318:L252M	L	-	1	2	PPP1R3B	9035818	0.790000	0.28787	0.249000	0.24280	0.866000	0.49608	1.598000	0.36740	1.072000	0.40860	0.459000	0.35465	TTG		0.498	PPP1R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251472.1	NM_024607		14	90	0	0	0	0.479597	0	14	90					T	8998408	A	T	8998408	3	4	12	1	0	0	0	0	1	0	0	0	12372	11	1	5	107	5	PPP1R3B	8	8998408	Missense_Mutation	SNP	A	TCGA-BJ-A0ZG-01A-11D-A10S-08		8998408	137365614	8	387											
BMS1	9790	broad.mit.edu	37	chr10	43287074	43287074	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taattttcctctaatgtttaGggtgccaagctgttctacct	7	9	2	0			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr10:43287074G>T	ENST00000374518.5	+	6	699		c.e6-1			NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor						ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTAATGTTTAGGGTGCCAAGC	0.338																																						ENST00000374518.4																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.e6-1		BMS1 ribosome biogenesis factor							49	53	52					10																	43287074		2203	4299	6502	SO:0001630	splice_region_variant	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43287074G>T	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"BMS1-like, ribosome assembly protein (yeast)", "BMS1 homolog, ribosome assembly protein (yeast)"	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.637-1G>T	10.37:g.43287074G>T								NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			6	699	+								Q5QPT5|Q86XJ9	Splice_Site	SNP	ENST00000374518.5	37		CCDS7199.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.708668	0.68615	.	.	ENSG00000165733	ENST00000374518	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8188	0.96583	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BMS1	42607080	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	9.641000	0.98458	2.678000	0.91216	0.644000	0.83932	.		0.338	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753	Intron	4	135	1	0	0.150653	0.150653	0.167871	4	135					T	43287074	G	T	43287074	5	4	12	1	0	0	0	0	0	0	1	0	1472	1014	35	4	654	4	BMS1	10	43287074	Splice_Site	SNP	G	TCGA-BJ-A0ZG-01A-11D-A10S-08		43287074	92247673	9	388											
PDZD8	118987	broad.mit.edu	37	chr10	119043929	119043929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttttgcatactcagattgCgtagtgcggttctagtgact	10	9	2	2			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr10:119043929C>T	ENST00000334464.5	-	5	2554	c.2315G>A	c.(2314-2316)cGc>cAc	p.R772H	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	772					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		ACTCAGATTGCGTAGTGCGGT	0.413																																						ENST00000334464.5																			0				kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38						c.(2314-2316)cGc>cAc		PDZ domain containing 8							117	107	111					10																	119043929		2203	4300	6503	SO:0001583	missense	118987				intracellular signal transduction		metal ion binding	g.chr10:119043929C>T	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.2315G>A	10.37:g.119043929C>T	ENSP00000334642:p.Arg772His					PDZD8_ENST00000482496.1_5'UTR	p.R772H	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN		all cancers(201;0.0121)	5	2554	-		Colorectal(252;0.19)	772					Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	37	c.2315G>A	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.421266	0.42918	.	.	ENSG00000165650	ENST00000334464	D	0.85629	-2.01	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.89065	0.6609	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87465	0.2410	10	0.36615	T	0.2	-9.8292	19.9539	0.97212	0.0:1.0:0.0:0.0	.	772	Q8NEN9	PDZD8_HUMAN	H	772	ENSP00000334642:R772H	ENSP00000334642:R772H	R	-	2	0	PDZD8	119033919	1.000000	0.71417	0.761000	0.31378	0.055000	0.15305	7.818000	0.86416	2.717000	0.92951	0.655000	0.94253	CGC		0.413	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		4	157	0	0	0	0.150653	0	4	157					T	119043929	C	T	119043929	3	4	12	1	0	0	0	0	1	0	0	0	11705	768	27	1	1153	1	PDZD8	10	119043929	Missense_Mutation	SNP	C	TCGA-BJ-A0ZG-01A-11D-A10S-08	75756855	119043929	16490818	10	389											
OR52N1	79473	broad.mit.edu	37	chr11	5809691	5809691	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacagtggtccagggccatgAgcatgagcaccccagactcc	11	15	0	3			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr11:5809691A>G	ENST00000317078.1	-	1	355	c.356T>C	c.(355-357)cTc>cCc	p.L119P	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		CAGGGCCATGAGCATGAGCAC	0.488																																						ENST00000317078.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31						c.(355-357)cTc>cCc		olfactory receptor, family 52, subfamily N, member 1							161	141	148					11																	5809691		2201	4296	6497	SO:0001583	missense	79473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5809691A>G	AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"GPCR / Class A : Olfactory receptors"	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.356T>C	11.37:g.5809691A>G	ENSP00000322823:p.Leu119Pro					TRIM5_ENST00000380027.1_Intron	p.L119P	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	355	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	119					Q6IFF6	Missense_Mutation	SNP	ENST00000317078.1	37	c.356T>C	CCDS31398.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.841886	0.51057	.	.	ENSG00000181001	ENST00000317078	T	0.03358	3.96	4.59	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44902	D	0.000414	T	0.16471	0.0396	M	0.85299	2.745	0.48135	D	0.999593	D	0.89917	1.0	D	0.97110	1.0	T	0.00195	-1.1932	10	0.72032	D	0.01	.	5.852	0.18697	0.8165:0.0:0.1835:0.0	.	119	Q8NH53	O52N1_HUMAN	P	119	ENSP00000322823:L119P	ENSP00000322823:L119P	L	-	2	0	OR52N1	5766267	0.002000	0.14202	1.000000	0.80357	0.915000	0.54546	1.787000	0.38704	2.044000	0.60594	0.496000	0.49642	CTC		0.488	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401142.1	NM_001001913		3	179	0	0	0	0.115264	0	3	179					G	5809691	A	G	5809691	3	3	12	1	0	0	0	0	1	0	0	0	11127	304	11	3	609	3	OR52N1	11	5809691	Missense_Mutation	SNP	A	TCGA-BJ-A0ZG-01A-11D-A10S-08		5809691	129196825	11	390											
SMUG1	23583	broad.mit.edu	37	chr12	54576295	54576295	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggcaccactcacttctgacTgtgggcactccagtcccagc	10	16	2	1			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr12:54576295T>A	ENST00000508394.2	-	3	460	c.398A>T	c.(397-399)cAg>cTg	p.Q133L	SMUG1_ENST00000505128.1_3'UTR|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000337581.3_Missense_Mutation_p.Q133L|SMUG1_ENST00000243112.5_Missense_Mutation_p.Q133L|SMUG1_ENST00000514196.1_Missense_Mutation_p.Q133L|SMUG1_ENST00000506595.1_Missense_Mutation_p.Q133L|SMUG1_ENST00000513838.1_Missense_Mutation_p.Q133L|SMUG1_ENST00000401977.2_Missense_Mutation_p.Q133L|SMUG1_ENST00000514685.1_Missense_Mutation_p.Q133L	NM_001243787.1|NM_001243788.1|NM_014311.2	NP_001230716.1|NP_001230717.1|NP_055126.1	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional uracil-DNA glycosylase 1	133				Missing (in Ref. 3; BAC03670). {ECO:0000305}.	base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA repair (GO:0006281)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA N-glycosylase activity (GO:0019104)|oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity (GO:0000703)|single-strand selective uracil DNA N-glycosylase activity (GO:0017065)|uracil DNA N-glycosylase activity (GO:0004844)			kidney(1)|large_intestine(4)|lung(1)	6						CACTTCTGACTGTGGGCACTC	0.562								Base excision repair (BER), DNA glycosylases																														ENST00000508394.2																			0				kidney(1)|large_intestine(4)|lung(1)	6						c.(397-399)cAg>cTg	Base excision repair (BER), DNA glycosylases	single-strand-selective monofunctional uracil-DNA glycosylase 1							90	90	90					12																	54576295		2203	4300	6503	SO:0001583	missense	23583				depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity	g.chr12:54576295T>A	AF125182	CCDS8874.1, CCDS58239.1	12q13.13	2013-10-28			ENSG00000123415	ENSG00000123415			17148	protein-coding gene	gene with protein product		607753				10074426, 11526119	Standard	NM_014311		Approved	UNG3, FDG, HMUDG	uc009znf.2	Q53HV7	OTTHUMG00000160068	ENST00000508394.2:c.398A>T	12.37:g.54576295T>A	ENSP00000424191:p.Gln133Leu					SMUG1_ENST00000243112.5_Missense_Mutation_p.Q133L|SMUG1_ENST00000514196.1_Missense_Mutation_p.Q133L|SMUG1_ENST00000505128.1_3'UTR|SMUG1_ENST00000514685.1_Missense_Mutation_p.Q133L|SMUG1_ENST00000513838.1_Missense_Mutation_p.Q133L|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000337581.3_Missense_Mutation_p.Q133L|SMUG1_ENST00000506595.1_Missense_Mutation_p.Q133L|SMUG1_ENST00000401977.2_Missense_Mutation_p.Q133L	p.Q133L	NM_001243787.1|NM_001243788.1|NM_014311.2	NP_001230716.1|NP_001230717.1|NP_055126.1	Q53HV7	SMUG1_HUMAN			3	460	-			133	Missing (in Ref. 3; BAC03670).				A8K2K9|O95862|Q0D2M0|Q8NB71|Q9BWC8	Missense_Mutation	SNP	ENST00000508394.2	37	c.398A>T	CCDS8874.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.085929	0.55861	.	.	ENSG00000123415	ENST00000506595;ENST00000514685;ENST00000337581;ENST00000508394;ENST00000513838;ENST00000243112;ENST00000401977;ENST00000514196;ENST00000504338	T;T;T;T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07	4.86	4.86	0.63082	Uracil-DNA glycosylase-like (3);	0.376195	0.30840	N	0.008765	T	0.44705	0.1306	L	0.60455	1.87	0.80722	D	1	P;P	0.48016	0.904;0.895	P;B	0.44422	0.449;0.335	T	0.50575	-0.8812	10	0.66056	D	0.02	.	13.7757	0.63053	0.0:0.0:0.0:1.0	.	133;133	Q53HV7;Q53HV7-2	SMUG1_HUMAN;.	L	133	ENSP00000421206:Q133L;ENSP00000421139:Q133L;ENSP00000338606:Q133L;ENSP00000424191:Q133L;ENSP00000423629:Q133L;ENSP00000243112:Q133L;ENSP00000384828:Q133L;ENSP00000425974:Q133L;ENSP00000423083:Q133L	ENSP00000243112:Q133L	Q	-	2	0	SMUG1	52862562	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	3.387000	0.52501	1.957000	0.56846	0.460000	0.39030	CAG		0.562	SMUG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359074.3	NM_014311		20	313	0	0	0	0.557998	0	20	313					A	54576295	T	A	54576295	3	1	12	1	0	0	0	0	1	0	0	0	14818	1580	55	5	418	5	SMUG1	12	54576295	Missense_Mutation	SNP	T	TCGA-BJ-A0ZG-01A-11D-A10S-08		54576295	79275600	12	391											
ANO4	121601	broad.mit.edu	37	chr12	101520843	101520843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcacaccacaacgagtggCcgtgaccatgtaggtgagag	13	10	0	2			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr12:101520843C>T	ENST00000392977.3	+	27	3073	c.2863C>T	c.(2863-2865)Ccg>Tcg	p.P955S	ANO4_ENST00000392979.3_Missense_Mutation_p.P920S|ANO4_ENST00000299222.9_Missense_Mutation_p.P475S|ANO4_ENST00000550015.1_Missense_Mutation_p.P475S			Q32M45	ANO4_HUMAN	anoctamin 4	955					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.P920S(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CAACGAGTGGCCGTGACCATG	0.488										HNSCC(74;0.22)																												ENST00000392979.3																			1	Substitution - Missense(1)	p.P920S(1)	large_intestine(1)	NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(2758-2760)Ccg>Tcg		anoctamin 4							98	67	77					12																	101520843		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101520843C>T	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	23837	protein-coding gene	gene with protein product		610111	"transmembrane protein 16D"	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2863C>T	12.37:g.101520843C>T	ENSP00000376703:p.Pro955Ser	HNSCC(74;0.22)				ANO4_ENST00000392977.3_Missense_Mutation_p.P955S|ANO4_ENST00000550015.1_Missense_Mutation_p.P475S|ANO4_ENST00000299222.9_Missense_Mutation_p.P475S	p.P920S	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN			26	3119	+			955					Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.2758C>T		.	.	.	.	.	.	.	.	.	.	C	26.6	4.753853	0.89843	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.71698	-0.54;-0.27;-0.59;-0.27	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.78039	0.4221	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.80165	-0.1496	10	0.87932	D	0	.	19.9299	0.97115	0.0:1.0:0.0:0.0	.	475;955;920	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	S	920;475;955;475	ENSP00000376705:P920S;ENSP00000299222:P475S;ENSP00000376703:P955S;ENSP00000450192:P475S	ENSP00000299222:P475S	P	+	1	0	ANO4	100044974	1.000000	0.71417	0.998000	0.56505	0.697000	0.40408	7.772000	0.85439	2.769000	0.95229	0.655000	0.94253	CCG		0.488	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		3	46	0	0	0	0.115264	0	3	46					T	101520843	C	T	101520843	3	4	12	1	0	0	0	0	1	0	0	0	699	739	26	2	2856	2	ANO4	12	101520843	Missense_Mutation	SNP	C	TCGA-BJ-A0ZG-01A-11D-A10S-08	46944548	101520843	32331052	13	392											
TRPC4	7223	broad.mit.edu	37	chr13	38357334	38357334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctagggatttcttgacactgGcataatctcccttttccaca	6	12	2	1			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr13:38357334G>A	ENST00000379705.3	-	2	994	c.137C>T	c.(136-138)gCc>gTc	p.A46V	TRPC4_ENST00000379681.3_Missense_Mutation_p.A46V|TRPC4_ENST00000447043.1_Missense_Mutation_p.A46V|TRPC4_ENST00000379679.1_Missense_Mutation_p.A46V|TRPC4_ENST00000358477.2_Missense_Mutation_p.A46V|TRPC4_ENST00000426868.2_Missense_Mutation_p.A46V|TRPC4_ENST00000379673.2_Missense_Mutation_p.A46V|TRPC4_ENST00000355779.2_Missense_Mutation_p.A46V|TRPC4_ENST00000338947.5_Missense_Mutation_p.A46V			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	46					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.A46V(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTTGACACTGGCATAATCTCC	0.403																																						ENST00000379705.3																			2	Substitution - Missense(2)	p.A46V(2)	endometrium(2)	NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(136-138)gCc>gTc		transient receptor potential cation channel, subfamily C, member 4							164	164	164					13																	38357334		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38357334G>A	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.137C>T	13.37:g.38357334G>A	ENSP00000369027:p.Ala46Val					TRPC4_ENST00000358477.2_Missense_Mutation_p.A46V|TRPC4_ENST00000426868.2_Missense_Mutation_p.A46V|TRPC4_ENST00000379679.1_Missense_Mutation_p.A46V|TRPC4_ENST00000338947.5_Missense_Mutation_p.A46V|TRPC4_ENST00000355779.2_Missense_Mutation_p.A46V|TRPC4_ENST00000379673.2_Missense_Mutation_p.A46V|TRPC4_ENST00000379681.3_Missense_Mutation_p.A46V|TRPC4_ENST00000447043.1_Missense_Mutation_p.A46V	p.A46V			Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	2	994	-			46					B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.137C>T	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236101	0.79800	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	6.01	6.01	0.97437	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.69070	0.3070	L	0.35288	1.05	0.58432	D	0.999993	P;P;D;D;P;P	0.54207	0.746;0.846;0.965;0.965;0.746;0.949	B;B;P;P;B;P	0.56865	0.426;0.426;0.639;0.639;0.426;0.808	T	0.68618	-0.5361	10	0.56958	D	0.05	-19.632	20.5211	0.99222	0.0:0.0:1.0:0.0	.	46;46;46;46;46;46	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	V	46	ENSP00000369027:A46V;ENSP00000369003:A46V;ENSP00000342580:A46V;ENSP00000369001:A46V;ENSP00000410133:A46V;ENSP00000348025:A46V;ENSP00000351264:A46V;ENSP00000368995:A46V;ENSP00000414316:A46V	ENSP00000342580:A46V	A	-	2	0	TRPC4	37255334	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.935000	0.87658	2.861000	0.98227	0.650000	0.86243	GCC		0.403	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		5	339	0	0	0	0.184627	0	5	339					A	38357334	G	A	38357334	3	1	12	1	0	0	0	0	1	0	0	0	16577	1203	42	2	2851	2	TRPC4	13	38357334	Missense_Mutation	SNP	G	TCGA-BJ-A0ZG-01A-11D-A10S-08		38357334	76812544	14	393											
TRMT5	57570	broad.mit.edu	37	chr14	61442344	61442344	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acagctccagccctttgccgAacatcctcagcagggttagc	9	15	1	0			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr14:61442344A>C	ENST00000261249.6	-	4	1677	c.1293T>G	c.(1291-1293)gtT>gtG	p.V431V	RP11-193F5.1_ENST00000553946.1_RNA|RNU6-398P_ENST00000384143.1_RNA	NM_020810.2	NP_065861.2			tRNA methyltransferase 5											NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		CCCTTTGCCGAACATCCTCAG	0.483																																						ENST00000261249.6																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11						c.(1291-1293)gtT>gtG		tRNA methyltransferase 5							103	98	99					14																	61442344		2203	4300	6503	SO:0001819	synonymous_variant	57570					cytoplasm	tRNA (guanine-N1-)-methyltransferase activity	g.chr14:61442344A>C	AB037814	CCDS32092.1	14q23.1	2013-06-05	2013-06-05	2005-08-11		ENSG00000126814	2.1.1.228		23141	protein-coding gene	gene with protein product	"tRNA (guanine(37)-N1)-methyltransferase"	611023	"KIAA1393", "tRNA methyltransferase 5 homolog (S. cerevisiae)"	KIAA1393		15248782	Standard	XM_005267916		Approved	TRM5	uc001xff.4	Q32P41		ENST00000261249.6:c.1293T>G	14.37:g.61442344A>C						RP11-193F5.1_ENST00000553946.1_RNA	p.V431V	NM_020810.2	NP_065861.2	Q32P41	TRMT5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0873)	4	1677	-			431						Silent	SNP	ENST00000261249.6	37	c.1293T>G	CCDS32092.1																																																																																				0.483	TRMT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412831.1	NM_02081		8	148	0	0	0	0.335167	0	8	148					C	61442344	A	C	61442344	2	2	12	1	0	0	0	0	0	0	0	1	16564	233	9	5		5	TRMT5	14	61442344	Silent	SNP	A	TCGA-BJ-A0ZG-01A-11D-A10S-08		61442344	45907196	15	394											
MYO5C	55930	broad.mit.edu	37	chr15	52486124	52486124	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctattcagaaagcctagcTtgaaactgctggggatctga	10	9	2	3			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr15:52486124T>C	ENST00000261839.7	-	41	5365	c.5204A>G	c.(5203-5205)aAg>aGg	p.K1735R	RP11-430B1.2_ENST00000560518.1_lincRNA|GNB5_ENST00000261837.7_5'Flank	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1735						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		AAAGCCTAGCTTGAAACTGCT	0.383																																						ENST00000261839.7																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(5203-5205)aAg>aGg		myosin VC							114	111	112					15																	52486124		1822	4083	5905	SO:0001583	missense	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52486124T>C	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"Myosins / Myosin superfamily : Class V"	7604	protein-coding gene	gene with protein product	"myosin 5C"	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.5204A>G	15.37:g.52486124T>C	ENSP00000261839:p.Lys1735Arg					RP11-430B1.2_ENST00000560518.1_lincRNA	p.K1735R	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	41	5365	-			1735					Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	37	c.5204A>G	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	T	15.53	2.860440	0.51482	.	.	ENSG00000128833	ENST00000261839	D	0.88509	-2.39	4.85	4.85	0.62838	.	0.123458	0.53938	D	0.000041	D	0.85230	0.5649	L	0.54323	1.7	0.80722	D	1	P	0.42827	0.791	B	0.38616	0.277	D	0.83539	0.0095	10	0.20519	T	0.43	.	14.5988	0.68424	0.0:0.0:0.0:1.0	.	1735	Q9NQX4	MYO5C_HUMAN	R	1735	ENSP00000261839:K1735R	ENSP00000261839:K1735R	K	-	2	0	MYO5C	50273416	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	4.129000	0.57957	2.045000	0.60652	0.455000	0.32223	AAG		0.383	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		21	221	0	0	0	0.624587	0	21	221					C	52486124	T	C	52486124	3	2	12	1	0	0	0	0	1	0	0	0	10080	1609	56	3	28	3	MYO5C	15	52486124	Missense_Mutation	SNP	T	TCGA-BJ-A0ZG-01A-11D-A10S-08		52486124	50045268	16	395											
CHD9	80205	broad.mit.edu	37	chr16	53243396	53243396	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atatttttgtttctgtagccTccatcttccaagaagagcga	7	9	2	2			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr16:53243396T>C	ENST00000398510.3	+	2	1542	c.1455T>C	c.(1453-1455)ccT>ccC	p.P485P	CHD9_ENST00000564845.1_Silent_p.P485P|CHD9_ENST00000566029.1_Silent_p.P485P|CHD9_ENST00000447540.1_Silent_p.P485P			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	485					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TTCTGTAGCCTCCATCTTCCA	0.343																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(1453-1455)ccT>ccC		chromodomain helicase DNA binding protein 9							33	30	31					16																	53243396		1803	4074	5877	SO:0001819	synonymous_variant	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53243396T>C	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.1455T>C	16.37:g.53243396T>C						CHD9_ENST00000398510.3_Silent_p.P485P|CHD9_ENST00000564845.1_Silent_p.P485P|CHD9_ENST00000447540.1_Silent_p.P485P	p.P485P			Q3L8U1	CHD9_HUMAN			3	1664	+		all_cancers(37;0.0212)	485					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Silent	SNP	ENST00000398510.3	37	c.1455T>C																																																																																					0.343	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		3	33	0	0	0	0.150653	0	3	33					C	53243396	T	C	53243396	2	2	12	1	0	0	0	0	0	0	0	1	3332	1538	54	3		3	CHD9	16	53243396	Silent	SNP	T	TCGA-BJ-A0ZG-01A-11D-A10S-08		53243396	37111357	17	396											
SUPT6H	6830	broad.mit.edu	37	chr17	27008399	27008399	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaagaagctgaagcgtgTcagggaagagggagatgaag	17	6	1	5			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr17:27008399T>C	ENST00000314616.6	+	12	1758	c.1475T>C	c.(1474-1476)gTc>gCc	p.V492A	SUPT6H_ENST00000347486.4_Missense_Mutation_p.V492A	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	492	Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CTGAAGCGTGTCAGGGAAGAG	0.468																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(1474-1476)gTc>gCc		suppressor of Ty 6 homolog (S. cerevisiae)							79	74	76					17																	27008399		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27008399T>C	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.1475T>C	17.37:g.27008399T>C	ENSP00000319104:p.Val492Ala					SUPT6H_ENST00000347486.4_Missense_Mutation_p.V492A	p.V492A	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			12	1758	+	Lung NSC(42;0.00431)		492					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.1475T>C	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	T	10.33	1.320635	0.23994	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	.	.	.	5.05	3.95	0.45737	.	0.190926	0.43579	D	0.000549	T	0.17365	0.0417	N	0.03608	-0.345	0.30719	N	0.748451	B	0.10296	0.003	B	0.08055	0.003	T	0.13495	-1.0507	9	0.07990	T	0.79	-5.4841	10.9619	0.47389	0.0:0.0758:0.0:0.9242	.	492	Q7KZ85	SPT6H_HUMAN	A	492	.	ENSP00000319104:V492A	V	+	2	0	SUPT6H	24032526	1.000000	0.71417	0.973000	0.42090	0.991000	0.79684	5.046000	0.64226	1.884000	0.54569	0.533000	0.62120	GTC		0.468	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		3	92	0	0	0	0.115264	0	3	92					C	27008399	T	C	27008399	3	2	12	1	0	0	0	0	1	0	0	0	15397	1667	58	3	1517	3	SUPT6H	17	27008399	Missense_Mutation	SNP	T	TCGA-BJ-A0ZG-01A-11D-A10S-08		27008399	54186811	18	397											
CLIP3	25999	broad.mit.edu	37	chr19	36509847	36509847	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacacgggagaagtccatcCggggggtccggggtgtggag	20	8	0	2	rs368502619		TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr19:36509847C>T	ENST00000360535.4	-	9	1363	c.1136G>A	c.(1135-1137)cGg>cAg	p.R379Q	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.R379Q	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	379					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)			GAAGTCCATCCGGGGGGTCCG	0.612																																						ENST00000360535.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23						c.(1135-1137)cGg>cAg		CAP-GLY domain containing linker protein 3		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	65	67	66		1136,1136	4.9	1.0	19		66	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CLIP3	NM_001199570.1,NM_015526.2	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	379/548,379/548	36509847	1,13005	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.chr19:36509847C>T	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.1136G>A	19.37:g.36509847C>T	ENSP00000353732:p.Arg379Gln					AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.R379Q	p.R379Q	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		9	1363	-	Esophageal squamous(110;0.162)		379					A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Missense_Mutation	SNP	ENST00000360535.4	37	c.1136G>A	CCDS12486.1	.	.	.	.	.	.	.	.	.	.	C	35	5.558751	0.96514	0.0	1.16E-4	ENSG00000105270	ENST00000360535;ENST00000544037;ENST00000534959	T	0.75050	-0.9	4.87	4.87	0.63330	Cytoskeleton-associated protein, Gly-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.72922	0.3521	N	0.19112	0.55	0.80722	D	1	D	0.64830	0.994	P	0.61201	0.885	T	0.67948	-0.5538	10	0.16896	T	0.51	-26.029	15.5566	0.76200	0.0:1.0:0.0:0.0	.	379	Q96DZ5	CLIP3_HUMAN	Q	379;261;355	ENSP00000353732:R379Q	ENSP00000353732:R379Q	R	-	2	0	CLIP3	41201687	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.623000	0.74238	2.558000	0.86282	0.650000	0.86243	CGG		0.612	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	NM_015526		19	135	0	0	0	0.608945	0	19	135					T	36509847	C	T	36509847	3	4	12	1	0	0	0	0	1	0	0	0	3534	652	23	1	531	1	CLIP3	19	36509847	Missense_Mutation	SNP	C	TCGA-BJ-A0ZG-01A-11D-A10S-08		36509847	22619136	19	398											
ZNF790	388536	broad.mit.edu	37	chr19	37309574	37309574	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcatccataaggttctgcatCagtatgaattttcttatgtc	7	8	3	1			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr19:37309574C>T	ENST00000356725.4	-	5	1792	c.1672G>A	c.(1672-1674)Gat>Aat	p.D558N	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	558					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GGTTCTGCATCAGTATGAATT	0.358																																						ENST00000356725.4																			0				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32						c.(1672-1674)Gat>Aat		zinc finger protein 790							109	109	109					19																	37309574		2203	4300	6503	SO:0001583	missense	388536				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37309574C>T	BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"Zinc fingers, C2H2-type", "-"	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.1672G>A	19.37:g.37309574C>T	ENSP00000349161:p.Asp558Asn					CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	p.D558N	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		5	1792	-	Esophageal squamous(110;0.183)		558						Missense_Mutation	SNP	ENST00000356725.4	37	c.1672G>A	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	C	5.035	0.192147	0.09599	.	.	ENSG00000197863	ENST00000356725	T	0.60299	0.2	3.18	-0.434	0.12283	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30166	0.0756	N	0.08118	0	0.19300	N	0.999973	B	0.06786	0.001	B	0.04013	0.001	T	0.19128	-1.0315	9	0.66056	D	0.02	.	1.3832	0.02234	0.1712:0.4532:0.1674:0.2083	.	558	Q6PG37	ZN790_HUMAN	N	558	ENSP00000349161:D558N	ENSP00000349161:D558N	D	-	1	0	ZNF790	42001414	0.000000	0.05858	0.001000	0.08648	0.042000	0.13812	0.577000	0.23758	-0.089000	0.12484	-0.282000	0.10007	GAT		0.358	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894		8	239	0	0	0	0.27861	0	8	239					T	37309574	C	T	37309574	3	4	12	1	0	0	0	0	1	0	0	0	18159	826	29	2	242	2	ZNF790	19	37309574	Missense_Mutation	SNP	C	TCGA-BJ-A0ZG-01A-11D-A10S-08	799727	37309574	21819409	20	399											
NOP56	10528	broad.mit.edu	37	chr20	2635156	2635156	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggatcccaagattggtgCcgcaatacaggaggagttag	15	7	0	1			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr20:2635156C>T	ENST00000329276.5	+	4	821	c.305C>T	c.(304-306)gCc>gTc	p.A102V	SNORA51_ENST00000606420.1_RNA|SNORD110_ENST00000408189.1_RNA|SNORD86_ENST00000391196.1_RNA|MIR1292_ENST00000408135.1_RNA|SNORD57_ENST00000448188.1_RNA|SNORD56_ENST00000413522.1_RNA	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	102					cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						AAGATTGGTGCCGCAATACAG	0.517																																						ENST00000329276.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						c.(304-306)gCc>gTc		NOP56 ribonucleoprotein							118	110	113					20																	2635156		2203	4300	6503	SO:0001583	missense	10528				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding	g.chr20:2635156C>T	Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"spinocerebellar ataxia 36"	614154	"nucleolar protein 5A (56kD with KKE/D repeat)", "nucleolar protein 5A (56kDa with KKE/D repeat)", "NOP56 ribonucleoprotein homolog (yeast)"	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.305C>T	20.37:g.2635156C>T	ENSP00000370589:p.Ala102Val						p.A102V	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN			4	821	+			102					Q2M3T6|Q9NQ05	Missense_Mutation	SNP	ENST00000329276.5	37	c.305C>T	CCDS13030.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623130	0.87460	.	.	ENSG00000101361	ENST00000329276;ENST00000445139	T;T	0.59083	0.29;0.88	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.58779	0.2146	M	0.66439	2.03	0.80722	D	1	P	0.39022	0.655	B	0.36719	0.231	T	0.63924	-0.6527	10	0.62326	D	0.03	-12.8816	17.5206	0.87786	0.0:1.0:0.0:0.0	.	102	O00567	NOP56_HUMAN	V	102	ENSP00000370589:A102V;ENSP00000388497:A102V	ENSP00000370589:A102V	A	+	2	0	NOP56	2583156	1.000000	0.71417	0.996000	0.52242	0.948000	0.59901	7.554000	0.82212	2.725000	0.93324	0.555000	0.69702	GCC		0.517	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077631.2	NM_006392		4	185	0	0	0	0.150653	0	4	185					T	2635156	C	T	2635156	3	4	12	1	0	0	0	0	1	0	0	0	10539	739	26	2	319	2	NOP56	20	2635156	Missense_Mutation	SNP	C	TCGA-BJ-A0ZG-01A-11D-A10S-08		2635156	60390364	21	400											
LAMA5	3911	broad.mit.edu	37	chr20	60910087	60910087	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcactcactgcggcagccAaaatagtcagcctgatccag	11	13	2	1			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr20:60910087A>C	ENST00000252999.3	-	20	2538	c.2472T>G	c.(2470-2472)ttT>ttG	p.F824L	MIR4758_ENST00000577688.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	824	Laminin EGF-like 10. {ECO:0000255|PROSITE-ProRule:PRU00460}.				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)			TGCGGCAGCCAAAATAGTCAG	0.652																																						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.(2470-2472)ttT>ttG		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						61	49	53					20																	60910087		2203	4299	6502	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.chr20:60910087A>C	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.2472T>G	20.37:g.60910087A>C	ENSP00000252999:p.Phe824Leu						p.F824L	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		20	2538	-	Breast(26;1.57e-08)		824			Laminin EGF-like 10.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.2472T>G	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	A	16.89	3.246579	0.59103	.	.	ENSG00000130702	ENST00000252999	T	0.52526	0.66	5.1	-6.16	0.02098	EGF-like, laminin (4);	0.050890	0.85682	D	0.000000	T	0.32194	0.0821	L	0.31664	0.95	0.80722	D	1	P	0.42908	0.793	B	0.42386	0.386	T	0.28202	-1.0051	10	0.27082	T	0.32	.	15.345	0.74330	0.705:0.0:0.295:0.0	.	824	O15230	LAMA5_HUMAN	L	824	ENSP00000252999:F824L	ENSP00000252999:F824L	F	-	3	2	LAMA5	60343482	0.045000	0.20229	0.888000	0.34837	0.176000	0.22953	-0.432000	0.06956	-1.019000	0.03358	-2.156000	0.00330	TTT		0.652	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		3	55	0	0	0	0.115264	0	3	55					C	60910087	A	C	60910087	3	2	12	1	0	0	0	0	1	0	0	0	8609	127	5	5	8859	5	LAMA5	20	60910087	Missense_Mutation	SNP	A	TCGA-BJ-A0ZG-01A-11D-A10S-08	58274931	60910087	2115433	22	401											
KRTAP13-4	284827	broad.mit.edu	37	chr21	31802980	31802980	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttccctgagttacggatcCagattctgctacccaaacta	6	14	1	2			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr21:31802980C>A	ENST00000334068.2	+	1	409	c.387C>A	c.(385-387)tcC>tcA	p.S129S		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	129						intermediate filament (GO:0005882)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						GTTACGGATCCAGATTCTGCT	0.473																																					NSCLC(196;2401 3038 18004 35753)	ENST00000334068.2																			0				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						c.(385-387)tcC>tcA		keratin associated protein 13-4							104	93	97					21																	31802980		2203	4300	6503	SO:0001819	synonymous_variant	284827					intermediate filament		g.chr21:31802980C>A	AP001708	CCDS13592.1	21q22.1	2006-03-13			ENSG00000186971	ENSG00000186971		"Keratin associated proteins"	18926	protein-coding gene	gene with protein product						12359730	Standard	NM_181600		Approved	KAP13.4	uc011acw.2	Q3LI77	OTTHUMG00000057770	ENST00000334068.2:c.387C>A	21.37:g.31802980C>A							p.S129S	NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN			1	409	+			129					A2RRL3	Silent	SNP	ENST00000334068.2	37	c.387C>A	CCDS13592.1																																																																																				0.473	KRTAP13-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128222.1			8	105	1	0	5.18039e-06	0.27861	6.3136e-06	8	105					A	31802980	C	A	31802980	2	1	12	1	0	0	0	0	0	0	0	1	8525	581	21	4		4	KRTAP13-4	21	31802980	Silent	SNP	C	TCGA-BJ-A0ZG-01A-11D-A10S-08		31802980	16326915	23	402											
THOC5	8563	broad.mit.edu	37	chr22	29939458	29939458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttcttcaacctgatgtggGctaatcggttaagcttcttt	8	9	3	1			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr22:29939458G>A	ENST00000490103.1	-	4	436	c.314C>T	c.(313-315)gCc>gTc	p.A105V	THOC5_ENST00000397871.1_Missense_Mutation_p.A105V|THOC5_ENST00000397872.1_Missense_Mutation_p.A105V|THOC5_ENST00000397873.2_Missense_Mutation_p.A105V	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	105	Interaction with CSF1R. {ECO:0000250}.|Interaction with THOC7.				blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCTGATGTGGGCTAATCGGTT	0.438																																						ENST00000490103.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(313-315)gCc>gTc		THO complex 5							167	164	165					22																	29939458		2203	4300	6503	SO:0001583	missense	8563				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding	g.chr22:29939458G>A	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"THO complex subunits"	19074	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 79"	612733	"chromosome 22 open reading frame 19"	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.314C>T	22.37:g.29939458G>A	ENSP00000420306:p.Ala105Val					THOC5_ENST00000397871.1_Missense_Mutation_p.A105V|THOC5_ENST00000397872.1_Missense_Mutation_p.A105V|THOC5_ENST00000397873.2_Missense_Mutation_p.A105V	p.A105V	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN			4	436	-			105			Interaction with CSF1R (By similarity).|Interaction with THOC7.		O60839|Q9UPZ5	Missense_Mutation	SNP	ENST00000490103.1	37	c.314C>T	CCDS13859.1	.	.	.	.	.	.	.	.	.	.	G	34	5.399741	0.96030	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873;ENST00000440771;ENST00000455450;ENST00000428374	T;T;T;T;T	0.49139	1.77;1.77;1.77;1.77;0.79	5.62	5.62	0.85841	.	0.053583	0.85682	D	0.000000	T	0.53626	0.1808	L	0.47190	1.495	0.80722	D	1	P;P	0.45715	0.865;0.811	B;P	0.48270	0.441;0.572	T	0.51988	-0.8635	10	0.49607	T	0.09	-13.4461	19.6484	0.95791	0.0:0.0:1.0:0.0	.	105;105	F8WCP5;Q13769	.;THOC5_HUMAN	V	105;105;105;105;105;101;105	ENSP00000420306:A105V;ENSP00000380970:A105V;ENSP00000380969:A105V;ENSP00000380971:A105V;ENSP00000415425:A101V	ENSP00000444493:A105V	A	-	2	0	THOC5	28269458	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.448000	0.97600	2.646000	0.89796	0.557000	0.71058	GCC		0.438	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678		4	168	0	0	0	0.184627	0	4	168					A	29939458	G	A	29939458	3	1	12	1	0	0	0	0	1	0	0	0	15865	1203	42	2	1805	2	THOC5	22	29939458	Missense_Mutation	SNP	G	TCGA-BJ-A0ZG-01A-11D-A10S-08		29939458	21365108	24	403											
EIF1AX	1964	broad.mit.edu	37	chrX	20156731	20156731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacccctgcgtctgtttttaCctcctttacctgatggttta	6	12	1	1			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chrX:20156731C>T	ENST00000379607.5	-	2	229	c.26G>A	c.(25-27)gGt>gAt	p.G9D	snoU2_19_ENST00000364722.1_RNA|EIF1AX_ENST00000379593.1_Intron|EIF1AX-AS1_ENST00000424026.1_RNA|snoU2-30_ENST00000365012.1_RNA	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	9					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						TCTGTTTTTACCTCCTTTACC	0.313																																						ENST00000379607.5																			0				endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.(25-27)gGt>gAt		eukaryotic translation initiation factor 1A, X-linked							143	133	136					X																	20156731		2203	4300	6503	SO:0001583	missense	1964					cytosol	translation initiation factor activity	g.chrX:20156731C>T	L18960	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674			3250	protein-coding gene	gene with protein product		300186	"eukaryotic translation initiation factor 1A, X chromosome"	EIF4C, EIF1A		8106356, 9381176	Standard	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.26G>A	X.37:g.20156731C>T	ENSP00000368927:p.Gly9Asp					EIF1AX_ENST00000379593.1_Intron	p.G9D	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN			2	229	-			9					B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Missense_Mutation	SNP	ENST00000379607.5	37	c.26G>A	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.618536	0.66787	.	.	ENSG00000173674	ENST00000379607	T	0.48201	0.82	4.94	4.94	0.65067	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.79021	0.4376	H	0.96301	3.8	0.80722	D	1	D	0.62365	0.991	D	0.74023	0.982	D	0.86715	0.1938	9	0.87932	D	0	-11.9247	17.661	0.88193	0.0:1.0:0.0:0.0	.	9	P47813	IF1AX_HUMAN	D	9	ENSP00000368927:G9D	ENSP00000368927:G9D	G	-	2	0	EIF1AX	20066652	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	7.237000	0.78164	2.187000	0.69744	0.600000	0.82982	GGT		0.313	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1			63	38	0	0	0	0.870114	0	63	38					T	20156731	C	T	20156731	3	4	12	1	0	0	0	0	1	0	0	0	4992	507	18	2	432	2	EIF1AX	23	20156731	Missense_Mutation	SNP	C	TCGA-BJ-A0ZG-01A-11D-A10S-08		20156731	135113829	25	404											
ABCD1	215	broad.mit.edu	37	chrX	152991197	152991197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacctggagggccaactggCcctgtcgttccgcagccgtc	12	15	0	0			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chrX:152991197C>T	ENST00000218104.3	+	1	875	c.476C>T	c.(475-477)gCc>gTc	p.A159V	BCAP31_ENST00000345046.6_5'Flank|BCAP31_ENST00000441714.1_5'Flank|BCAP31_ENST00000458587.2_5'Flank|ABCD1_ENST00000370129.4_5'Flank	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	159	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.|Interaction with PEX19.				alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCCAACTGGCCCTGTCGTTC	0.647																																						ENST00000218104.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18						c.(475-477)gCc>gTc		ATP-binding cassette, sub-family D (ALD), member 1							56	47	50					X																	152991197		2202	4300	6502	SO:0001583	missense	215				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity	g.chrX:152991197C>T	Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"ATP binding cassette transporters / subfamily D"	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.476C>T	X.37:g.152991197C>T	ENSP00000218104:p.Ala159Val						p.A159V	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN			1	875	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		159			ABC transmembrane type-1.|Interaction with PEX19.		Q6GTZ2	Missense_Mutation	SNP	ENST00000218104.3	37	c.476C>T	CCDS14728.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385635	0.61956	.	.	ENSG00000101986	ENST00000218104	D	0.95035	-3.59	5.24	5.24	0.73138	ABC transporter, N-terminal (1);ABC transporter, integral membrane type 1 (1);	0.297872	0.31909	N	0.006869	D	0.96990	0.9017	M	0.86343	2.81	0.80722	D	1	D	0.63046	0.992	D	0.65773	0.938	D	0.97178	0.9849	10	0.59425	D	0.04	-25.2022	11.7198	0.51675	0.0:0.6959:0.3041:0.0	.	159	P33897	ABCD1_HUMAN	V	159	ENSP00000218104:A159V	ENSP00000218104:A159V	A	+	2	0	ABCD1	152644391	1.000000	0.71417	0.988000	0.46212	0.608000	0.37181	1.369000	0.34227	2.183000	0.69458	0.436000	0.28706	GCC		0.647	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033		3	39	0	0	0	0.115264	0	3	39					T	152991197	C	T	152991197	3	4	12	1	0	0	0	0	1	0	0	0	60	739	26	2	478	2	ABCD1	23	152991197	Missense_Mutation	SNP	C	TCGA-BJ-A0ZG-01A-11D-A10S-08	132834466	152991197	2279363	26	405											
CGN	57530	broad.mit.edu	37	chr1	151491515	151491515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtagcaccattgacactgctCccctgtcttcagtggactca	8	14	3	1			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr1:151491515C>T	ENST00000271636.7	+	2	653	c.520C>T	c.(520-522)Ccc>Tcc	p.P174S		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	168	Head.|Interacts with ZO-2.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGACACTGCTCCCCTGTCTTC	0.592																																						ENST00000271636.7																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(520-522)Ccc>Tcc		cingulin							82	85	84					1																	151491515		2203	4300	6503	SO:0001583	missense	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151491515C>T	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.520C>T	1.37:g.151491515C>T	ENSP00000271636:p.Pro174Ser						p.P174S	NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	653	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		168			Head.|Interacts with ZO-2.		A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	37	c.520C>T	CCDS999.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490402	0.64074	.	.	ENSG00000143375	ENST00000427934;ENST00000271636	T;T	0.60920	1.59;0.15	4.93	4.93	0.64822	.	0.252195	0.40728	N	0.001026	T	0.40322	0.1112	L	0.31926	0.97	0.58432	D	0.999999	P	0.43750	0.816	B	0.43809	0.432	T	0.20240	-1.0281	9	.	.	.	-22.4433	17.2425	0.87017	0.0:1.0:0.0:0.0	.	168	Q9P2M7	CING_HUMAN	S	174	ENSP00000410836:P174S;ENSP00000271636:P174S	.	P	+	1	0	CGN	149758139	0.910000	0.30920	1.000000	0.80357	0.992000	0.81027	2.273000	0.43381	2.739000	0.93911	0.561000	0.74099	CCC		0.592	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		6	171	0	0	0	0.248553	0	6	171					T	151491515	C	T	151491515	3	4	13	1	0	0	0	0	1	0	0	0	3303	855	30	2	522	2	CGN	1	151491515	Missense_Mutation	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08		151491515	97759106	1	406											
CCDC19	25790	broad.mit.edu	37	chr1	159842908	159842908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgctgtaagcgccctgtgGcctttttctcctcctccagc	8	16	1	0			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr1:159842908G>A	ENST00000368099.4	-	11	1467	c.1403C>T	c.(1402-1404)gCc>gTc	p.A468V	RP11-190A12.7_ENST00000544342.1_5'Flank|CCDC19_ENST00000426543.2_Missense_Mutation_p.A383V|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GCGCCCTGTGGCCTTTTTCTC	0.602																																						ENST00000426543.2																			0				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26						c.(1147-1149)gCc>gTc		coiled-coil domain containing 19							59	56	57					1																	159842908		2203	4300	6503	SO:0001583	missense	25790					mitochondrion|soluble fraction		g.chr1:159842908G>A																												ENST00000368099.4:c.1403C>T	1.37:g.159842908G>A	ENSP00000357079:p.Ala468Val					CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Missense_Mutation_p.A468V	p.A383V			Q9UL16	CCD19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.151)		11	1603	-	all_hematologic(112;0.0597)		468						Missense_Mutation	SNP	ENST00000368099.4	37	c.1148C>T	CCDS30914.1	.	.	.	.	.	.	.	.	.	.	G	7.187	0.590715	0.13812	.	.	ENSG00000213085	ENST00000368099;ENST00000426543	T;T	0.09911	2.93;2.93	5.26	3.28	0.37604	.	0.601844	0.18527	N	0.138585	T	0.02848	0.0085	L	0.46157	1.445	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.38394	-0.9663	9	.	.	.	-3.8175	4.6071	0.12383	0.088:0.1491:0.61:0.1529	.	468	Q9UL16	CCD19_HUMAN	V	468;383	ENSP00000357079:A468V;ENSP00000403044:A383V	.	A	-	2	0	CCDC19	158109532	0.004000	0.15560	0.075000	0.20258	0.334000	0.28698	0.680000	0.25306	1.346000	0.45694	0.655000	0.94253	GCC		0.602	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1			25	49	0	0	0	0.706142	0	25	49					A	159842908	G	A	159842908	3	1	13	1	0	0	0	0	1	0	0	0	2795	1203	42	2	260	2	CCDC19	1	159842908	Missense_Mutation	SNP	G	TCGA-BJ-A0ZH-01A-11D-A10S-08	8351393	159842908	89407713	2	407											
SETD2	29072	broad.mit.edu	37	chr3	47162712	47162712	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaagaaatttccggattcttCtctgttcctttatgaaggaa	7	7	2	2			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr3:47162712C>G	ENST00000409792.3	-	3	3456	c.3414G>C	c.(3412-3414)gaG>gaC	p.E1138D		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1138					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CCGGATTCTTCTCTGTTCCTT	0.373			"N, F, S, Mis"		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"N, F, S, Mis"	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(3412-3414)gaG>gaC		SET domain containing 2							123	133	130					3																	47162712		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47162712C>G	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.3414G>C	3.37:g.47162712C>G	ENSP00000386759:p.Glu1138Asp						p.E1138D	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	3456	-		Acute lymphoblastic leukemia(5;0.0169)	1138					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.3414G>C	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	7.911	0.736484	0.15574	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.89415	-2.51;1.3	5.55	3.62	0.41486	.	0.099661	0.43919	D	0.000511	T	0.77751	0.4177	N	0.12182	0.205	0.27807	N	0.942261	B;B	0.14805	0.011;0.005	B;B	0.19946	0.027;0.007	T	0.67810	-0.5574	10	0.34782	T	0.22	.	9.9627	0.41706	0.2076:0.7193:0.0:0.0731	.	1138;1138	F2Z317;Q9BYW2	.;SETD2_HUMAN	D	1138;1138;1138;1094	ENSP00000386759:E1138D;ENSP00000416401:E1094D	ENSP00000386759:E1138D	E	-	3	2	SETD2	47137716	0.476000	0.25901	0.997000	0.53966	0.768000	0.43524	-0.383000	0.07398	1.567000	0.49668	0.655000	0.94253	GAG		0.373	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		12	220	0	0	0	0.38729	0	12	220					G	47162712	C	G	47162712	3	3	13	1	0	0	0	0	1	0	0	0	14131	912	32	4	4356	4	SETD2	3	47162712	Missense_Mutation	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08		47162712	150859718	3	408											
SPARCL1	8404	broad.mit.edu	37	chr4	88415391	88415391	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcctgctcttggtttccttgAtcccttaggccttggctatg	9	12	1	1			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr4:88415391A>T	ENST00000282470.6	-	4	1031	c.561T>A	c.(559-561)gaT>gaA	p.D187E	SPARCL1_ENST00000418378.1_Missense_Mutation_p.D187E|SPARCL1_ENST00000503414.1_Missense_Mutation_p.D62E	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	187					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		GGTTTCCTTGATCCCTTAGGC	0.398																																						ENST00000418378.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21						c.(559-561)gaT>gaA		SPARC-like 1 (hevin)							251	258	256					4																	88415391		2203	4300	6503	SO:0001583	missense	8404				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	g.chr4:88415391A>T	X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"EF-hand domain containing"	11220	protein-coding gene	gene with protein product		606041	"SPARC-like 1 (mast9, hevin)"			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.561T>A	4.37:g.88415391A>T	ENSP00000282470:p.Asp187Glu					SPARCL1_ENST00000282470.6_Missense_Mutation_p.D187E|SPARCL1_ENST00000503414.1_Missense_Mutation_p.D62E	p.D187E	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00118)	5	1132	-			187					B4E2Z0|E7ESU2|Q14800	Missense_Mutation	SNP	ENST00000282470.6	37	c.561T>A	CCDS3622.1	.	.	.	.	.	.	.	.	.	.	A	7.300	0.612912	0.14066	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000438050;ENST00000503414	T;T;T	0.23552	2.48;2.48;1.9	4.95	-3.55	0.04639	.	1.223850	0.05506	N	0.559255	T	0.10121	0.0248	N	0.19112	0.55	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.09377	0.004;0.004	T	0.26155	-1.0111	10	0.02654	T	1	-3.0531	0.0986	0.00046	0.3601:0.1855:0.1895:0.265	.	187;187	Q8N4S1;Q14515	.;SPRL1_HUMAN	E	187;187;62;62	ENSP00000282470:D187E;ENSP00000414856:D187E;ENSP00000422903:D62E	ENSP00000282470:D187E	D	-	3	2	SPARCL1	88634415	0.000000	0.05858	0.000000	0.03702	0.201000	0.24016	-0.470000	0.06639	-0.612000	0.05701	-0.408000	0.06270	GAT		0.398	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2			8	577	0	0	0	0.335167	0	8	577					T	88415391	A	T	88415391	3	4	13	1	0	0	0	0	1	0	0	0	14995	330	12	5	1465	5	SPARCL1	4	88415391	Missense_Mutation	SNP	A	TCGA-BJ-A0ZH-01A-11D-A10S-08		88415391	102738885	4	409											
GHR	2690	broad.mit.edu	37	chr5	42718766	42718766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggatggcgactctggacGtaccagctgttgtgaacctg	14	9	1	1	rs180778998	byFrequency	TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr5:42718766G>A	ENST00000230882.4	+	10	1347	c.1157G>A	c.(1156-1158)cGt>cAt	p.R386H	GHR_ENST00000357703.3_Missense_Mutation_p.R364H|GHR_ENST00000537449.1_Missense_Mutation_p.R199H|GHR_ENST00000513625.1_3'UTR	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	386					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GACTCTGGACGTACCAGCTGT	0.473													G|||	2	0.000399361	0	0	5008	,	,		19814	0.001		0	False		,,,				2504	0.001					ENST00000230882.4																			0				NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(1156-1158)cGt>cAt		growth hormone receptor	Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						151	117	129					5																	42718766		2203	4300	6503	SO:0001583	missense	2690				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	g.chr5:42718766G>A		CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"Fibronectin type III domain containing"	4263	protein-coding gene	gene with protein product	"growth hormone binding protein"	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.1157G>A	5.37:g.42718766G>A	ENSP00000230882:p.Arg386His					GHR_ENST00000513625.1_3'UTR|GHR_ENST00000357703.3_Missense_Mutation_p.R364H|GHR_ENST00000537449.1_Missense_Mutation_p.R199H	p.R386H	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN			10	1347	+		Myeloproliferative disorder(839;0.00878)	386					Q9HCX2	Missense_Mutation	SNP	ENST00000230882.4	37	c.1157G>A	CCDS3940.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	19.60	3.858190	0.71834	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000537449	T;T;T	0.46819	0.86;0.86;0.86	5.86	5.0	0.66597	.	0.139321	0.64402	N	0.000002	T	0.65790	0.2725	M	0.91663	3.23	0.80722	D	1	P	0.52170	0.951	P	0.49085	0.6	T	0.76214	-0.3041	10	0.87932	D	0	-7.4586	15.0984	0.72253	0.0681:0.0:0.9319:0.0	.	386	P10912	GHR_HUMAN	H	386;364;199	ENSP00000230882:R386H;ENSP00000350335:R364H;ENSP00000442206:R199H	ENSP00000230882:R386H	R	+	2	0	GHR	42754523	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.666000	0.74446	1.494000	0.48533	0.591000	0.81541	CGT		0.473	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	NM_000163		6	169	0	0	0	0.217242	0	6	169					A	42718766	G	A	42718766	3	1	13	1	0	0	0	0	1	0	0	0	6371	1145	40	1	1191	1	GHR	5	42718766	Missense_Mutation	SNP	G	TCGA-BJ-A0ZH-01A-11D-A10S-08		42718766	138196494	5	410											
CNOT6	57472	broad.mit.edu	37	chr5	179996203	179996203	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atactctgatgtgaagttggTacaaactatgatgttcctct	8	7	2	3			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr5:179996203T>C	ENST00000393356.1	+	12	1545	c.1121T>C	c.(1120-1122)gTa>gCa	p.V374A	CNOT6_ENST00000261951.4_Missense_Mutation_p.V374A			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	374	Nuclease domain. {ECO:0000250}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		GTGAAGTTGGTACAAACTATG	0.413																																						ENST00000393356.1																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23						c.(1120-1122)gTa>gCa		CCR4-NOT transcription complex, subunit 6							118	113	115					5																	179996203		2203	4300	6503	SO:0001583	missense	57472				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding	g.chr5:179996203T>C	AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300			14099	protein-coding gene	gene with protein product		608951				11889047	Standard	XM_005265953		Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.1121T>C	5.37:g.179996203T>C	ENSP00000377024:p.Val374Ala					CNOT6_ENST00000261951.4_Missense_Mutation_p.V374A	p.V374A			Q9ULM6	CNOT6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)	12	1545	+	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	374					A7MD46|D3DWR0	Missense_Mutation	SNP	ENST00000393356.1	37	c.1121T>C	CCDS4455.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.031245	0.93575	.	.	ENSG00000113300	ENST00000261951;ENST00000393356	T;T	0.79033	-1.23;-1.23	5.86	5.86	0.93980	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	T	0.74921	0.3780	N	0.20574	0.59	0.80722	D	1	P	0.50156	0.932	P	0.53313	0.723	T	0.73968	-0.3815	9	.	.	.	-14.3907	16.2605	0.82541	0.0:0.0:0.0:1.0	.	374	Q9ULM6	CNOT6_HUMAN	A	374	ENSP00000261951:V374A;ENSP00000377024:V374A	.	V	+	2	0	CNOT6	179928809	1.000000	0.71417	0.963000	0.40424	0.868000	0.49771	8.040000	0.89188	2.237000	0.73441	0.460000	0.39030	GTA		0.413	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253532.1	NM_015455		3	157	0	0	0	0.150653	0	3	157					C	179996203	T	C	179996203	3	2	13	1	0	0	0	0	1	0	0	0	3622	1638	57	3	1155	3	CNOT6	5	179996203	Missense_Mutation	SNP	T	TCGA-BJ-A0ZH-01A-11D-A10S-08	137277437	179996203	919057	6	411											
DSP	1832	broad.mit.edu	37	chr6	7585761	7585761	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagccatccggaaggggttcAtagatggccgcgccgcacag	14	12	1	1			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr6:7585761A>G	ENST00000379802.3	+	24	8607	c.8266A>G	c.(8266-8268)Ata>Gta	p.I2756V	DSP_ENST00000418664.2_Missense_Mutation_p.I2157V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2756	4.5 X 38 AA tandem repeats (Domain C).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAAGGGGTTCATAGATGGCCG	0.537																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(8266-8268)Ata>Gta		desmoplakin							61	68	66					6																	7585761		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7585761A>G	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.8266A>G	6.37:g.7585761A>G	ENSP00000369129:p.Ile2756Val					DSP_ENST00000418664.2_Missense_Mutation_p.I2157V	p.I2756V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	8607	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2756			Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.8266A>G	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	A	2.316	-0.356658	0.05138	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.76709	-1.04;-1.04	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000005	T	0.80319	0.4601	L	0.53671	1.685	0.25457	N	0.987957	P;P	0.46656	0.485;0.882	P;D	0.68765	0.593;0.96	T	0.74355	-0.3692	10	0.37606	T	0.19	.	15.82	0.78633	1.0:0.0:0.0:0.0	.	2204;2756	Q4LE79;P15924	.;DESP_HUMAN	V	2756;2157	ENSP00000369129:I2756V;ENSP00000396591:I2157V	ENSP00000369129:I2756V	I	+	1	0	DSP	7530760	1.000000	0.71417	0.975000	0.42487	0.084000	0.17831	2.999000	0.49473	2.209000	0.71365	0.533000	0.62120	ATA		0.537	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		5	152	0	0	0	0.184627	0	5	152					G	7585761	A	G	7585761	3	3	13	1	0	0	0	0	1	0	0	0	4781	217	8	3	8360	3	DSP	6	7585761	Missense_Mutation	SNP	A	TCGA-BJ-A0ZH-01A-11D-A10S-08		7585761	163529306	7	412											
NOD1	10392	broad.mit.edu	37	chr7	30491380	30491380	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggacgtggtcgctgccccCgcagggggcatccactcctg	14	16	0	0			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr7:30491380C>A	ENST00000222823.4	-	6	2178	c.1653G>T	c.(1651-1653)gcG>gcT	p.A551A		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	551					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|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 tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TCGCTGCCCCCGCAGGGGGCA	0.622																																						ENST00000222823.4																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						c.(1651-1653)gcG>gcT		nucleotide-binding oligomerization domain containing 1							54	63	60					7																	30491380		2203	4300	6503	SO:0001819	synonymous_variant	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30491380C>A	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"Nucleotide-binding domain and leucine rich repeat containing"	16390	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1", "NLR family, CARD domain containing 1"	605980	"caspase recruitment domain family, member 4"	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.1653G>T	7.37:g.30491380C>A							p.A551A	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN			6	2178	-			551					B4DTU3|Q549U4|Q8IWF5	Silent	SNP	ENST00000222823.4	37	c.1653G>T	CCDS5427.1																																																																																				0.622	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			4	177	1	0	0.00024832	0.150653	0.00029488	4	177					A	30491380	C	A	30491380	2	1	13	1	0	0	0	0	0	0	0	1	10516	639	23	4		4	NOD1	7	30491380	Silent	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08		30491380	128647283	8	413											
PARP12	64761	broad.mit.edu	37	chr7	139757774	139757774	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggtggtcaacgccatgAgttctcagcacactcaggtt	10	12	4	1			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr7:139757774A>G	ENST00000263549.3	-	2	1260	c.387T>C	c.(385-387)acT>acC	p.T129T		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	129						nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CAACGCCATGAGTTCTCAGCA	0.483																																						ENST00000263549.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19						c.(385-387)acT>acC		poly (ADP-ribose) polymerase family, member 12							216	172	187					7																	139757774		2203	4300	6503	SO:0001819	synonymous_variant	64761					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding	g.chr7:139757774A>G	AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	21919	protein-coding gene	gene with protein product		612481	"zinc finger CCCH-type domain containing 1"	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.387T>C	7.37:g.139757774A>G							p.T129T	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN			2	1260	-	Melanoma(164;0.0142)		129					Q9H610|Q9NP36|Q9NTI3	Silent	SNP	ENST00000263549.3	37	c.387T>C	CCDS5857.1																																																																																				0.483	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750		3	170	0	0	0	0.115264	0	3	170					G	139757774	A	G	139757774	2	3	13	1	0	0	0	0	0	0	0	1	11457	291	11	3		3	PARP12	7	139757774	Silent	SNP	A	TCGA-BJ-A0ZH-01A-11D-A10S-08	109266394	139757774	19380889	9	414											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		33	71	0	0	0	0.779181	0	33	71					T	140453136	A	T	140453136	3	4	13	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A0ZH-01A-11D-A10S-08	695362	140453136	18685527	10	415											
DKK4	27121	broad.mit.edu	37	chr8	42231877	42231877	+	Splice_Site	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gacaactttctccctcttgtCctgtaacaaggttaatgtgg	8	10	2	0			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr8:42231877C>A	ENST00000220812.2	-	4	602	c.416G>T	c.(415-417)gGa>gTa	p.G139V		NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	dickkopf WNT signaling pathway inhibitor 4	139					multicellular organismal development (GO:0007275)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			TCCCTCTTGTCCTGTAACAAG	0.463																																						ENST00000220812.2																			0				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14						c.e4-1		dickkopf WNT signaling pathway inhibitor 4							66	65	65					8																	42231877		2203	4300	6503	SO:0001630	splice_region_variant	27121				multicellular organismal development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region		g.chr8:42231877C>A	AF177397	CCDS6130.1	8p11.2-p11.1	2013-05-15	2013-05-15		ENSG00000104371	ENSG00000104371			2894	protein-coding gene	gene with protein product		605417	"dickkopf (Xenopus laevis) homolog 4", "dickkopf homolog 4 (Xenopus laevis)"			10570958, 11701963	Standard	NM_014420		Approved		uc003xpb.3	Q9UBT3	OTTHUMG00000164167	ENST00000220812.2:c.416-1G>T	8.37:g.42231877C>A							p.G139_splice	NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)		4	602	-	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	139					Q3KNX0|Q9Y4C3	Splice_Site	SNP	ENST00000220812.2	37	c.415_splice	CCDS6130.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850588	0.71719	.	.	ENSG00000104371	ENST00000220812	T	0.41065	1.01	5.76	5.76	0.90799	.	0.103185	0.43260	D	0.000584	T	0.66713	0.2817	M	0.78456	2.415	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	T	0.69555	-0.5114	10	0.87932	D	0	.	17.4796	0.87669	0.0:1.0:0.0:0.0	.	139	Q9UBT3	DKK4_HUMAN	V	139	ENSP00000220812:G139V	ENSP00000220812:G139V	G	-	2	0	DKK4	42351034	0.999000	0.42202	1.000000	0.80357	0.398000	0.30690	3.694000	0.54742	2.706000	0.92434	0.655000	0.94253	GGA		0.463	DKK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377563.1		Missense_Mutation	4	120	1	0	0.150653	0.150653	0.168377	4	120					A	42231877	C	A	42231877	5	1	13	1	0	0	0	0	0	0	1	0	4547	869	30	4	262	4	DKK4	8	42231877	Splice_Site	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08		42231877	104132145	11	416											
CNTLN	54875	broad.mit.edu	37	chr9	17395016	17395016	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccatcaaggttatgagcaAtgtgtttgagaacctcagca	9	8	2	2			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr9:17395016A>G	ENST00000380647.3	+	15	2648	c.2564A>G	c.(2563-2565)aAt>aGt	p.N855S	CNTLN_ENST00000425824.1_Missense_Mutation_p.N855S|CNTLN_ENST00000262360.5_Missense_Mutation_p.N855S			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	855					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)		GTTATGAGCAATGTGTTTGAG	0.453																																						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.(2563-2565)aAt>aGt		centlein, centrosomal protein							86	89	88					9																	17395016		2096	4221	6317	SO:0001583	missense	54875					centriole|membrane	two-component sensor activity	g.chr9:17395016A>G	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.2564A>G	9.37:g.17395016A>G	ENSP00000370021:p.Asn855Ser					CNTLN_ENST00000262360.5_Missense_Mutation_p.N855S|CNTLN_ENST00000425824.1_Missense_Mutation_p.N855S	p.N855S			Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	15	2648	+			855					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	c.2564A>G	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	A	12.33	1.905487	0.33628	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.16457	2.34;2.34;2.6	5.93	5.93	0.95920	.	.	.	.	.	T	0.17916	0.0430	L	0.47716	1.5	0.27870	N	0.940086	P;B;B	0.46142	0.873;0.383;0.383	P;B;B	0.46452	0.517;0.13;0.13	T	0.05550	-1.0878	9	0.10377	T	0.69	.	8.4433	0.32828	0.8543:0.0:0.1457:0.0	.	855;855;855	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	S	855	ENSP00000370021:N855S;ENSP00000392798:N855S;ENSP00000262360:N855S	ENSP00000262360:N855S	N	+	2	0	CNTLN	17385016	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.370000	0.34238	2.261000	0.74972	0.528000	0.53228	AAT		0.453	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		3	103	0	0	0	0.150653	0	3	103					G	17395016	A	G	17395016	3	3	13	1	0	0	0	0	1	0	0	0	3639	101	4	3	2652	3	CNTLN	9	17395016	Missense_Mutation	SNP	A	TCGA-BJ-A0ZH-01A-11D-A10S-08		17395016	123818415	12	417											
PIGO	84720	broad.mit.edu	37	chr9	35092632	35092632	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cacagtcggcagtgtcgcctCagcccccttggggctctgga	13	15	2	0			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr9:35092632C>T	ENST00000378617.3	-	7	1646	c.1252G>A	c.(1252-1254)Gag>Aag	p.E418K	PIGO_ENST00000298004.5_Missense_Mutation_p.E418K|PIGO_ENST00000492770.1_5'Flank|PIGO_ENST00000341666.3_Missense_Mutation_p.E418K|PIGO_ENST00000361778.2_Missense_Mutation_p.E418K	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	418					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|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)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGTGTCGCCTCAGCCCCCTTG	0.587																																						ENST00000378617.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(1252-1254)Gag>Aag		phosphatidylinositol glycan anchor biosynthesis, class O							52	58	56					9																	35092632		2188	4281	6469	SO:0001583	missense	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35092632C>T	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"Phosphatidylinositol glycan anchor biosynthesis"	23215	protein-coding gene	gene with protein product		614730	"phosphatidylinositol glycan, class O"			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.1252G>A	9.37:g.35092632C>T	ENSP00000367880:p.Glu418Lys					PIGO_ENST00000341666.3_Missense_Mutation_p.E418K|PIGO_ENST00000298004.5_Missense_Mutation_p.E418K|PIGO_ENST00000361778.2_Missense_Mutation_p.E418K	p.E418K	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	1646	-			418					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	c.1252G>A	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	C	7.073	0.568625	0.13560	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	T;T;T;T	0.55930	0.53;0.49;0.49;0.53	5.38	5.38	0.77491	.	0.448691	0.24078	N	0.041743	T	0.48169	0.1485	M	0.61703	1.905	0.24242	N	0.995352	B;B	0.21452	0.007;0.056	B;B	0.15484	0.003;0.013	T	0.30297	-0.9983	10	0.18276	T	0.48	-25.6264	13.6251	0.62159	0.0:0.9238:0.0:0.0762	.	418;418	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	K	418	ENSP00000298004:E418K;ENSP00000367880:E418K;ENSP00000339382:E418K;ENSP00000354678:E418K	ENSP00000298004:E418K	E	-	1	0	PIGO	35082632	0.935000	0.31712	0.667000	0.29798	0.181000	0.23173	2.821000	0.48065	2.813000	0.96785	0.655000	0.94253	GAG		0.587	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		17	67	0	0	0	0.539581	0	17	67					T	35092632	C	T	35092632	3	4	13	1	0	0	0	0	1	0	0	0	11894	835	29	2	2037	2	PIGO	9	35092632	Missense_Mutation	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08	17697616	35092632	106120799	13	418											
PTGES2	80142	broad.mit.edu	37	chr9	130885238	130885238	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cttgagtcgcttgctgatgaGgtacatggccgctgcaccca	12	12	0	3			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr9:130885238G>C	ENST00000338961.6	-	5	1606	c.862C>G	c.(862-864)Ctc>Gtc	p.L288V	PTGES2_ENST00000277462.5_Missense_Mutation_p.L97V|PTGES2_ENST00000483625.1_5'Flank	NM_001256335.1|NM_025072.6	NP_001243264.1|NP_079348.1	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2	288	GST C-terminal.				cell redox homeostasis (GO:0045454)|positive regulation of transcription, DNA-templated (GO:0045893)|prostaglandin biosynthetic process (GO:0001516)|secretion (GO:0046903)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|glutathione binding (GO:0043295)|heme binding (GO:0020037)|lyase activity (GO:0016829)|prostaglandin-E synthase activity (GO:0050220)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(1)|lung(2)	4						TTGCTGATGAGGTACATGGCC	0.627																																						ENST00000338961.6																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(862-864)Ctc>Gtc		prostaglandin E synthase 2							117	93	101					9																	130885238		2203	4300	6503	SO:0001583	missense	80142				cell redox homeostasis|prostaglandin biosynthetic process	Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm	electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity	g.chr9:130885238G>C	AK024100	CCDS6891.1	9q34.12	2008-05-06	2002-06-13	2002-06-14	ENSG00000148334	ENSG00000148334			17822	protein-coding gene	gene with protein product		608152	"chromosome 9 open reading frame 15"	C9orf15		11866447	Standard	NM_025072		Approved	FLJ14038	uc004bti.4	Q9H7Z7	OTTHUMG00000020730	ENST00000338961.6:c.862C>G	9.37:g.130885238G>C	ENSP00000345341:p.Leu288Val					PTGES2_ENST00000277462.5_Missense_Mutation_p.L97V	p.L288V	NM_001256335.1|NM_025072.6	NP_001243264.1|NP_079348.1	Q9H7Z7	PGES2_HUMAN			5	1606	-			288			GST C-terminal.		Q53EW9|Q5SYV6|Q96GI0|Q96GL2	Missense_Mutation	SNP	ENST00000338961.6	37	c.862C>G	CCDS6891.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768380	0.31320	.	.	ENSG00000148334	ENST00000338961;ENST00000277462;ENST00000449878	T;T;T	0.45668	0.96;0.96;0.89	5.42	-6.25	0.02039	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.672579	0.15519	N	0.258125	T	0.17959	0.0431	N	0.19112	0.55	0.27388	N	0.955231	B	0.02656	0.0	B	0.04013	0.001	T	0.07233	-1.0783	10	0.33141	T	0.24	-14.5339	3.6901	0.08343	0.5629:0.0909:0.1749:0.1712	.	288	Q9H7Z7	PGES2_HUMAN	V	288;97;253	ENSP00000345341:L288V;ENSP00000277462:L97V;ENSP00000411378:L253V	ENSP00000277462:L97V	L	-	1	0	PTGES2	129925059	0.001000	0.12720	0.974000	0.42286	0.983000	0.72400	-1.501000	0.02281	-0.638000	0.05509	0.561000	0.74099	CTC		0.627	PTGES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054339.1			4	86	0	0	0	0.184627	0	4	86					C	130885238	G	C	130885238	3	2	13	1	0	0	0	0	1	0	0	0	12747	1000	35	4	283	4	PTGES2	9	130885238	Missense_Mutation	SNP	G	TCGA-BJ-A0ZH-01A-11D-A10S-08	95792606	130885238	10328193	14	419											
CYP2E1	1571	broad.mit.edu	37	chr10	135345689	135345689	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tgcaacgtcatagccgacatCctcttccgcaagcattttga	7	13	2	1			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr10:135345689C>G	ENST00000463117.2	+	6	821	c.549C>G	c.(547-549)atC>atG	p.I183M	CYP2E1_ENST00000252945.3_Missense_Mutation_p.I183M|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	183					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|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)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TAGCCGACATCCTCTTCCGCA	0.522									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													ENST00000463117.2																			0				NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(547-549)atC>atG		cytochrome P450, family 2, subfamily E, polypeptide 1	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)						140	126	130					10																	135345689		2203	4300	6503	SO:0001583	missense	1571	Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding	g.chr10:135345689C>G	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"Cytochrome P450s"	2631	protein-coding gene	gene with protein product		124040	"cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.549C>G	10.37:g.135345689C>G	ENSP00000440689:p.Ile183Met					SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.I183M	p.I183M			P05181	CP2E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	6	821	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	183					Q5VZD5|Q6NWT9|Q9UK47	Missense_Mutation	SNP	ENST00000463117.2	37	c.549C>G	CCDS7686.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.581111	0.46006	.	.	ENSG00000130649	ENST00000463117;ENST00000252945;ENST00000421586;ENST00000418356	T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59	4.59	2.69	0.31865	.	0.102744	0.64402	D	0.000003	T	0.71787	0.3381	L	0.37897	1.145	0.31294	N	0.689112	D	0.64830	0.994	D	0.91635	0.999	T	0.70226	-0.4930	10	0.87932	D	0	.	3.7861	0.08702	0.168:0.5797:0.1627:0.0896	.	183	P05181	CP2E1_HUMAN	M	183;183;96;46	ENSP00000440689:I183M;ENSP00000252945:I183M;ENSP00000412754:I96M;ENSP00000397299:I46M	ENSP00000252945:I183M	I	+	3	3	CYP2E1	135195679	0.950000	0.32346	0.999000	0.59377	0.428000	0.31595	-0.080000	0.11339	0.822000	0.34565	0.655000	0.94253	ATC		0.522	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051161.2	NM_000773		11	160	0	0	0	0.38729	0	11	160					G	135345689	C	G	135345689	3	3	13	1	0	0	0	0	1	0	0	0	4170	845	30	4	563	4	CYP2E1	10	135345689	Missense_Mutation	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08		135345689	189058	15	420											
LRRC4C	57689	broad.mit.edu	37	chr11	40137758	40137758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagttgaagagccagcagcaCcacaagcagggggtcaaata	12	9	1	2			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr11:40137758C>T	ENST00000278198.2	-	2	2048	c.85G>A	c.(85-87)Gtg>Atg	p.V29M	LRRC4C_ENST00000530763.1_Missense_Mutation_p.V29M|LRRC4C_ENST00000527150.1_Missense_Mutation_p.V29M|LRRC4C_ENST00000528697.1_Missense_Mutation_p.V29M			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	29					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GCCAGCAGCACCACAAGCAGG	0.498																																						ENST00000278198.2																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(85-87)Gtg>Atg		leucine rich repeat containing 4C							71	69	70					11																	40137758		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137758C>T	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"Immunoglobulin superfamily / I-set domain containing"	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.85G>A	11.37:g.40137758C>T	ENSP00000278198:p.Val29Met					LRRC4C_ENST00000528697.1_Missense_Mutation_p.V29M|LRRC4C_ENST00000530763.1_Missense_Mutation_p.V29M|LRRC4C_ENST00000527150.1_Missense_Mutation_p.V29M	p.V29M			Q9HCJ2	LRC4C_HUMAN			2	2048	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	29					A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.85G>A	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577678	0.45902	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763;ENST00000533474	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.76	5.76	0.90799	.	0.071131	0.56097	D	0.000024	T	0.38904	0.1058	N	0.14661	0.345	0.36362	D	0.860747	B	0.31290	0.318	B	0.25405	0.06	T	0.49021	-0.8982	10	0.62326	D	0.03	.	18.9442	0.92615	0.0:1.0:0.0:0.0	.	29	Q9HCJ2	LRC4C_HUMAN	M	29	ENSP00000278198:V29M;ENSP00000436976:V29M;ENSP00000437132:V29M;ENSP00000434761:V29M	ENSP00000278198:V29M	V	-	1	0	LRRC4C	40094334	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.272000	0.65559	2.719000	0.93026	0.650000	0.86243	GTG		0.498	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		12	37	0	0	0	0.411799	0	12	37					T	40137758	C	T	40137758	3	4	13	1	0	0	0	0	1	0	0	0	9008	507	18	2	1841	2	LRRC4C	11	40137758	Missense_Mutation	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08		40137758	94868758	16	421											
PTPRO	5800	broad.mit.edu	37	chr12	15636959	15636959	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgataataacatcgttgtcTcattagaagcttcagacgtc	7	8	2	3			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr12:15636959T>C	ENST00000281171.4	+	2	457	c.127T>C	c.(127-129)Tca>Cca	p.S43P	PTPRO_ENST00000348962.2_Missense_Mutation_p.S43P|PTPRO_ENST00000543886.1_Missense_Mutation_p.S43P	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	43					axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CATCGTTGTCTCATTAGAAGC	0.348																																						ENST00000281171.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(127-129)Tca>Cca		protein tyrosine phosphatase, receptor type, O							93	93	93					12																	15636959		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15636959T>C	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9678	protein-coding gene	gene with protein product	"osteoclastic transmembrane protein-tyrosine phosphatase"	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.127T>C	12.37:g.15636959T>C	ENSP00000281171:p.Ser43Pro					PTPRO_ENST00000543886.1_Missense_Mutation_p.S43P|PTPRO_ENST00000348962.2_Missense_Mutation_p.S43P	p.S43P	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN			2	457	+		Hepatocellular(102;0.244)	43					A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.127T>C	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.023107	0.75275	.	.	ENSG00000151490	ENST00000281171;ENST00000543886;ENST00000348962	T;T	0.04551	3.6;3.6	5.48	5.48	0.80851	Fibronectin, type III (1);	0.000000	0.51477	D	0.000100	T	0.12603	0.0306	L	0.27053	0.805	0.80722	D	1	D;D;D	0.67145	0.996;0.988;0.995	P;P;D	0.72982	0.857;0.723;0.979	T	0.04229	-1.0967	10	0.87932	D	0	.	15.5822	0.76452	0.0:0.0:0.0:1.0	.	43;43;43	Q16827-2;Q16827;Q8IYG3	.;PTPRO_HUMAN;.	P	43	ENSP00000281171:S43P;ENSP00000343434:S43P	ENSP00000281171:S43P	S	+	1	0	PTPRO	15528226	1.000000	0.71417	0.995000	0.50966	0.873000	0.50193	5.828000	0.69307	2.080000	0.62538	0.533000	0.62120	TCA		0.348	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			41	104	0	0	0	0.859065	0	41	104					C	15636959	T	C	15636959	3	2	13	1	0	0	0	0	1	0	0	0	12809	1551	54	3	133	3	PTPRO	12	15636959	Missense_Mutation	SNP	T	TCGA-BJ-A0ZH-01A-11D-A10S-08		15636959	118214936	17	422											
DENND5B	160518	broad.mit.edu	37	chr12	31605154	31605154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgggctatggtttcattgCccttcagtaactcatacatg	9	10	3	0			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr12:31605154C>T	ENST00000389082.5	-	5	1613	c.1349G>A	c.(1348-1350)gGc>gAc	p.G450D	DENND5B_ENST00000354285.4_Missense_Mutation_p.G472D|DENND5B_ENST00000536562.1_Missense_Mutation_p.G485D|DENND5B_ENST00000306833.6_Missense_Mutation_p.G485D|snoU13_ENST00000458765.1_RNA	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	450					positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GGTTTCATTGCCCTTCAGTAA	0.448																																						ENST00000389082.5																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1348-1350)gGc>gAc		DENN/MADD domain containing 5B							176	173	174					12																	31605154		1940	4140	6080	SO:0001583	missense	160518					integral to membrane		g.chr12:31605154C>T	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"DENN/MADD domain containing"	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.1349G>A	12.37:g.31605154C>T	ENSP00000373734:p.Gly450Asp					DENND5B_ENST00000306833.6_Missense_Mutation_p.G485D|DENND5B_ENST00000354285.4_Missense_Mutation_p.G472D|DENND5B_ENST00000536562.1_Missense_Mutation_p.G485D	p.G450D	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN			5	1613	-			450					B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	c.1349G>A	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.525367	0.44969	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285;ENST00000546299	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.45498	0.1345	L	0.54323	1.7	0.58432	D	0.999999	B;P;B;B	0.37061	0.321;0.58;0.215;0.321	B;B;B;B	0.38755	0.138;0.281;0.065;0.138	T	0.35375	-0.9791	10	0.13853	T	0.58	-22.9198	17.7861	0.88538	0.0:1.0:0.0:0.0	.	372;472;450;485	Q6ZUT9-3;Q6ZUT9-4;Q6ZUT9;G3V1S3	.;.;DEN5B_HUMAN;.	D	450;485;485;472;402	ENSP00000373734:G450D;ENSP00000306482:G485D;ENSP00000444889:G485D;ENSP00000346238:G472D;ENSP00000442938:G402D	ENSP00000306482:G485D	G	-	2	0	DENND5B	31496421	1.000000	0.71417	0.979000	0.43373	0.985000	0.73830	1.157000	0.31724	2.421000	0.82119	0.563000	0.77884	GGC		0.448	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		7	315	0	0	0	0.307466	0	7	315					T	31605154	C	T	31605154	3	4	13	1	0	0	0	0	1	0	0	0	4437	739	26	2	2543	2	DENND5B	12	31605154	Missense_Mutation	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08	15968195	31605154	102246741	18	423											
UNG	7374	broad.mit.edu	37	chr12	109536206	109536206	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gggaaggggccgctgcagctCttgagccgcctctgcgggga	18	12	2	1			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr12:109536206C>G	ENST00000336865.2	+	1	284	c.75C>G	c.(73-75)ctC>ctG	p.L25L	UNG_ENST00000242576.2_Intron	NM_003362.3	NP_003353.1			uracil-DNA glycosylase											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						CGCTGCAGCTCTTGAGCCGCC	0.697								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM																													ENST00000336865.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						c.(73-75)ctC>ctG	Base excision repair (BER), DNA glycosylases	uracil-DNA glycosylase							20	23	22					12																	109536206		2194	4265	6459	SO:0001819	synonymous_variant	7374	Immune Deficiency with Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	base-excision repair|interspecies interaction between organisms	mitochondrion|nucleus	protein binding|uracil DNA N-glycosylase activity	g.chr12:109536206C>G	A64377	CCDS9124.1, CCDS9125.1	12q23-q24.1	2014-09-17			ENSG00000076248	ENSG00000076248	3.2.2.27		12572	protein-coding gene	gene with protein product	"uracil-DNA glycosylase 1, uracil-DNA glycosylase 2"	191525		DGU		1923798, 17101234	Standard	NM_080911		Approved	UDG, UNG1, UNG2, HIGM4	uc001tnz.2	P13051	OTTHUMG00000169247	ENST00000336865.2:c.75C>G	12.37:g.109536206C>G						UNG_ENST00000242576.2_Intron	p.L25L	NM_003362.3	NP_003353.1	P13051	UNG_HUMAN			1	284	+			0						Silent	SNP	ENST00000336865.2	37	c.75C>G	CCDS9125.1																																																																																				0.697	UNG-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000403069.1	NM_080911		5	67	0	0	0	0.217242	0	5	67					G	109536206	C	G	109536206	2	3	13	1	0	0	0	0	0	0	0	1	16996	900	32	4		4	UNG	12	109536206	Silent	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08	77931052	109536206	24315689	19	424											
BRCA2	675	broad.mit.edu	37	chr13	32953493	32953493	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agttaagagccttgaataatCacaggcaaatgttgaatgat	9	5	1	4			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr13:32953493C>T	ENST00000380152.3	+	22	9027	c.8794C>T	c.(8794-8796)Cac>Tac	p.H2932Y	BRCA2_ENST00000544455.1_Missense_Mutation_p.H2932Y			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2932					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			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		Lung SC(185;0.0262)		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)		CTTGAATAATCACAGGCAAAT	0.363			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	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	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 2			"L, E"		"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.(8794-8796)Cac>Tac	Homologous recombination	breast cancer 2, early onset							95	91	92					13																	32953493		2203	4300	6503	SO:0001583	missense	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	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	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.chr13:32953493C>T	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.8794C>T	13.37:g.32953493C>T	ENSP00000369497:p.His2932Tyr	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.H2932Y	p.H2932Y	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)	22	9021	+		Lung SC(185;0.0262)	2932					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.8794C>T	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.001906	0.35320	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.54675	0.56;0.56	5.6	4.74	0.60224	Nucleic acid-binding, OB-fold-like (1);	0.103307	0.64402	N	0.000002	T	0.37156	0.0993	N	0.26130	0.795	0.34960	D	0.752104	P	0.42409	0.779	B	0.37480	0.251	T	0.50389	-0.8834	10	0.30078	T	0.28	.	11.9964	0.53206	0.0:0.8541:0.0:0.1459	.	2932	P51587	BRCA2_HUMAN	Y	2932	ENSP00000369497:H2932Y;ENSP00000439902:H2932Y	ENSP00000369497:H2932Y	H	+	1	0	BRCA2	31851493	0.619000	0.27059	0.992000	0.48379	0.974000	0.67602	1.054000	0.30455	1.470000	0.48102	0.563000	0.77884	CAC		0.363	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		9	73	0	0	0	0.361761	0	9	73					T	32953493	C	T	32953493	3	4	13	1	0	0	0	0	1	0	0	0	1499	826	29	2	8876	2	BRCA2	13	32953493	Missense_Mutation	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08		32953493	82216385	20	425											
CBLN3	643866	broad.mit.edu	37	chr14	24897090	24897090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagacactcggtccccagGgtccaagggcagtagcacag	13	13	0	1			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr14:24897090G>A	ENST00000267406.6	-	3	993	c.523C>T	c.(523-525)Cct>Tct	p.P175S	KHNYN_ENST00000556842.1_5'Flank|CBLN3_ENST00000555436.1_Missense_Mutation_p.P124S|KHNYN_ENST00000251343.5_5'Flank|KHNYN_ENST00000553935.1_5'Flank	NM_001039771.2	NP_001034860.1	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	175	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Necessary for interaction with CBLN3, and homotrimerization. {ECO:0000250}.					cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		CGGTCCCCAGGGTCCAAGGGC	0.587																																						ENST00000267406.6																			0				central_nervous_system(1)|lung(3)	4						c.(523-525)Cct>Tct		cerebellin 3 precursor							108	111	110					14																	24897090		2203	4300	6503	SO:0001583	missense	643866					cell junction|extracellular region|synapse		g.chr14:24897090G>A	AY359070	CCDS32057.1	14q12	2006-12-13				ENSG00000139899			20146	protein-coding gene	gene with protein product		612978				12975309	Standard	NM_001039771		Approved		uc001wpg.4	Q6UW01		ENST00000267406.6:c.523C>T	14.37:g.24897090G>A	ENSP00000267406:p.Pro175Ser					CBLN3_ENST00000555436.1_Missense_Mutation_p.P124S	p.P175S	NM_001039771.2	NP_001034860.1	Q6UW01	CBLN3_HUMAN		GBM - Glioblastoma multiforme(265;0.00159)	3	993	-			175			C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).			Missense_Mutation	SNP	ENST00000267406.6	37	c.523C>T	CCDS32057.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.157515	0.57368	.	.	ENSG00000139899	ENST00000267406;ENST00000555436	T;T	0.74526	-0.85;-0.85	5.62	4.72	0.59763	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.49916	D	0.000135	T	0.64864	0.2637	N	0.24115	0.695	0.33425	D	0.580397	P	0.38551	0.636	P	0.46452	0.517	T	0.66019	-0.6027	10	0.08599	T	0.76	-11.4589	11.5084	0.50481	0.0:0.0:0.6737:0.3263	.	175	Q6UW01	CBLN3_HUMAN	S	175;124	ENSP00000267406:P175S;ENSP00000450935:P124S	ENSP00000267406:P175S	P	-	1	0	CBLN3	23966930	0.998000	0.40836	0.983000	0.44433	0.987000	0.75469	1.755000	0.38379	1.352000	0.45808	0.561000	0.74099	CCT		0.587	CBLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412943.1	XM_115232		7	196	0	0	0	0.27861	0	7	196					A	24897090	G	A	24897090	3	1	13	1	0	0	0	0	1	0	0	0	2706	1232	43	2	98	2	CBLN3	14	24897090	Missense_Mutation	SNP	G	TCGA-BJ-A0ZH-01A-11D-A10S-08		24897090	82452450	21	426											
ERO1L	30001	broad.mit.edu	37	chr14	53150513	53150513	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaattaaaaataccttgtaaTacctaaagtagtcactttca	3	7	2	0			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr14:53150513T>C	ENST00000395686.3	-	2	450	c.227A>G	c.(226-228)tAt>tGt	p.Y76C		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	76					4-hydroxyproline metabolic process (GO:0019471)|brown fat cell differentiation (GO:0050873)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum unfolded protein response (GO:0030968)|extracellular matrix organization (GO:0030198)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)|response to temperature stimulus (GO:0009266)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					taCCTTGTAATACCTAAAGTA	0.259																																						ENST00000395686.3																		ERO1L/FERMT2(2)	0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12						c.(226-228)tAt>tGt		ERO1-like (S. cerevisiae)							30	29	29					14																	53150513		2194	4294	6488	SO:0001583	missense	30001				chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor	g.chr14:53150513T>C	AF081886	CCDS9709.1	14q22.1	2010-10-06	2001-11-28		ENSG00000197930	ENSG00000197930			13280	protein-coding gene	gene with protein product		615435	"ERO1 (S. cerevisiae)-like"			10671517	Standard	NM_014584		Approved	ERO1A, ERO1-alpha	uc001wzv.3	Q96HE7	OTTHUMG00000140301	ENST00000395686.3:c.227A>G	14.37:g.53150513T>C	ENSP00000379042:p.Tyr76Cys						p.Y76C	NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN			2	450	-	Breast(41;0.226)		76					A8K9X4|A8MYW1|Q7LD45|Q9P1Q9|Q9UKV6	Missense_Mutation	SNP	ENST00000395686.3	37	c.227A>G	CCDS9709.1	.	.	.	.	.	.	.	.	.	.	T	17.27	3.346956	0.61183	.	.	ENSG00000197930	ENST00000395686	T	0.54675	0.56	5.54	5.54	0.83059	.	0.059391	0.64402	D	0.000002	T	0.80138	0.4568	M	0.94142	3.5	0.58432	D	0.999994	D	0.89917	1.0	D	0.79108	0.992	D	0.86003	0.1496	10	0.87932	D	0	-24.3564	15.6262	0.76859	0.0:0.0:0.0:1.0	.	76	Q96HE7	ERO1A_HUMAN	C	76	ENSP00000379042:Y76C	ENSP00000379042:Y76C	Y	-	2	0	ERO1L	52220263	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.131000	0.57970	2.232000	0.73038	0.533000	0.62120	TAT		0.259	ERO1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276892.1	NM_014584		3	33	0	0	0	0.115264	0	3	33					C	53150513	T	C	53150513	3	2	13	1	0	0	0	0	1	0	0	0	5239	1406	49	3	1239	3	ERO1L	14	53150513	Missense_Mutation	SNP	T	TCGA-BJ-A0ZH-01A-11D-A10S-08	28253423	53150513	54199027	22	427											
TTC8	123016	broad.mit.edu	37	chr14	89319349	89319349	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgccctctccacagaacattCtcagtacaaggactggtggt	9	12	2	1			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr14:89319349C>G	ENST00000345383.5	+	7	713	c.629C>G	c.(628-630)tCt>tGt	p.S210C	TTC8_ENST00000354441.6_Intron|TTC8_ENST00000346301.4_Missense_Mutation_p.S180C|TTC8_ENST00000338104.6_Missense_Mutation_p.S236C|TTC8_ENST00000380656.2_Missense_Mutation_p.S220C|TTC8_ENST00000358622.5_Missense_Mutation_p.S22C|TTC8_ENST00000536576.1_5'UTR	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	246					axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						ACAGAACATTCTCAGTACAAG	0.363																																						ENST00000338104.6																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						c.(706-708)tCt>tGt		tetratricopeptide repeat domain 8							89	79	83					14																	89319349		2203	4300	6503	SO:0001583	missense	123016				cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding	g.chr14:89319349C>G	AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"Tetratricopeptide (TTC) repeat domain containing"	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.629C>G	14.37:g.89319349C>G	ENSP00000339486:p.Ser210Cys					TTC8_ENST00000345383.5_Missense_Mutation_p.S210C|TTC8_ENST00000358622.5_Missense_Mutation_p.S22C|TTC8_ENST00000346301.4_Missense_Mutation_p.S180C|TTC8_ENST00000354441.6_Intron|TTC8_ENST00000380656.2_Missense_Mutation_p.S220C|TTC8_ENST00000536576.1_5'UTR	p.S236C			Q8TAM2	TTC8_HUMAN			8	759	+			246					A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Missense_Mutation	SNP	ENST00000345383.5	37	c.707C>G	CCDS9885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.61|13.61	2.289165|2.289165	0.40494|0.40494	.|.	.|.	ENSG00000165533|ENSG00000165533	ENST00000554686|ENST00000345383;ENST00000346301;ENST00000338104;ENST00000380656;ENST00000358622	.|T;T;T;T;T	.|0.78364	.|-1.16;-1.13;-1.17;-1.17;-1.12	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	.|0.232860	.|0.44902	.|D	.|0.000402	T|T	0.66771|0.66771	0.2823|0.2823	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|P;B;B	.|0.49961	.|0.93;0.0;0.002	.|P;B;B	.|0.47206	.|0.541;0.002;0.005	T|T	0.66148|0.66148	-0.5996|-0.5996	5|10	.|0.19590	.|T	.|0.45	-15.1555|-15.1555	18.9747|18.9747	0.92731|0.92731	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|246;190;220	.|Q8TAM2;Q8TAM2-3;Q8TAM2-4	.|TTC8_HUMAN;.;.	V|C	170|210;180;236;220;22	.|ENSP00000339486:S210C;ENSP00000298324:S180C;ENSP00000337653:S236C;ENSP00000370031:S220C;ENSP00000351439:S22C	.|ENSP00000337653:S236C	L|S	+|+	1|2	0|0	TTC8|TTC8	88389102|88389102	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	6.960000|6.960000	0.76036|0.76036	2.660000|2.660000	0.90430|0.90430	0.655000|0.655000	0.94253|0.94253	CTC|TCT		0.363	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410861.1	NM_144596		31	65	0	0	0	0.779181	0	31	65					G	89319349	C	G	89319349	3	3	13	1	0	0	0	0	1	0	0	0	16711	913	32	4	689	4	TTC8	14	89319349	Missense_Mutation	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08	36168836	89319349	18030191	23	428											
C16orf11	146325	broad.mit.edu	37	chr16	615194	615194	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagggctccccctcgcagccCcagatgaccctgtcattcct	8	19	1	2			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr16:615194C>A	ENST00000409413.3	+	3	1882	c.1603C>A	c.(1603-1605)Cca>Aca	p.P535T	NHLRC4_ENST00000540585.1_5'Flank|NHLRC4_ENST00000424439.2_5'Flank|PIGQ_ENST00000409527.2_5'Flank	NM_145270.2	NP_660313.1	P0CG20	PRR35_HUMAN		535										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						CCTCGCAGCCCCAGATGACCC	0.687																																						ENST00000409413.3																			0				central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(1603-1605)Cca>Aca		chromosome 16 open reading frame 11							15	19	18					16																	615194		1985	4144	6129	SO:0001583	missense	146325							g.chr16:615194C>A																												ENST00000409413.3:c.1603C>A	16.37:g.615194C>A	ENSP00000386499:p.Pro535Thr						p.P535T	NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN			3	1882	+			535					B8ZZ27|Q8N233|Q96AX3|Q96S23	Missense_Mutation	SNP	ENST00000409413.3	37	c.1603C>A	CCDS45365.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.475980	0.26511	.	.	ENSG00000161992	ENST00000409413	.	.	.	5.25	2.15	0.27550	.	0.874841	0.09526	N	0.790202	T	0.46132	0.1377	M	0.62723	1.935	0.09310	N	1	P	0.40515	0.719	B	0.44085	0.44	T	0.33854	-0.9852	9	0.66056	D	0.02	.	8.9402	0.35725	0.0:0.6335:0.226:0.1405	.	535	P0CG20	CP011_HUMAN	T	535	.	ENSP00000386499:P535T	P	+	1	0	C16orf11	555195	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.911000	0.04050	-0.028000	0.13850	-1.579000	0.00862	CCA		0.687	C16orf11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000333913.1			3	39	1	0	0.150653	0.150653	0.168377	3	39					A	615194	C	A	615194	3	1	13	1	0	0	0	0	1	0	0	0	1810	623	22	4	1609	4	C16orf11	16	615194	Missense_Mutation	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08		615194	89739559	24	429											
GPR56	9289	broad.mit.edu	37	chr16	57695714	57695714	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccaccatggtggtgcagatCctgcggctgcgcccccacac	12	17	0	1			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr16:57695714C>T	ENST00000388812.4	+	13	2228	c.1788C>T	c.(1786-1788)atC>atT	p.I596I	GPR56_ENST00000568908.1_Silent_p.I590I|GPR56_ENST00000379694.4_Silent_p.I426I|GPR56_ENST00000538815.1_Silent_p.I590I|GPR56_ENST00000388813.5_Silent_p.I590I|GPR56_ENST00000562631.1_Silent_p.I590I|GPR56_ENST00000544297.1_Silent_p.I415I|GPR56_ENST00000567835.1_Silent_p.I596I|GPR56_ENST00000562558.1_Silent_p.I590I|GPR56_ENST00000568909.1_Silent_p.I596I|GPR56_ENST00000379696.3_Silent_p.I596I|GPR56_ENST00000456916.1_Silent_p.I596I|GPR56_ENST00000540164.2_Silent_p.I590I			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	596					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						TGGTGCAGATCCTGCGGCTGC	0.602																																						ENST00000562631.1																			0				kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						c.(1768-1770)atC>atT		G protein-coupled receptor 56							130	110	117					16																	57695714		2198	4300	6498	SO:0001819	synonymous_variant	0				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity	g.chr16:57695714C>T	AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"-", "GPCR / Class B : Orphans"	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.1788C>T	16.37:g.57695714C>T						GPR56_ENST00000540164.2_Silent_p.I590I|GPR56_ENST00000568908.1_Silent_p.I590I|GPR56_ENST00000544297.1_Silent_p.I415I|GPR56_ENST00000568909.1_Silent_p.I596I|GPR56_ENST00000379694.4_Silent_p.I426I|GPR56_ENST00000379696.3_Silent_p.I596I|GPR56_ENST00000456916.1_Silent_p.I596I|GPR56_ENST00000562558.1_Silent_p.I590I|GPR56_ENST00000567835.1_Silent_p.I596I|GPR56_ENST00000538815.1_Silent_p.I590I|GPR56_ENST00000388812.4_Silent_p.I596I|GPR56_ENST00000388813.5_Silent_p.I590I	p.I590I			Q9Y653	GPR56_HUMAN			13	2302	+			596					A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Silent	SNP	ENST00000388812.4	37	c.1770C>T	CCDS32460.1																																																																																				0.602	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433436.3			4	118	0	0	0	0.184627	0	4	118					T	57695714	C	T	57695714	2	4	13	1	0	0	0	0	0	0	0	1	6700	845	30	2		2	GPR56	16	57695714	Silent	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08	57080520	57695714	32659039	25	430											
TUSC5	286753	broad.mit.edu	37	chr17	1198817	1198817	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcaacagggcaacgtggaCggcgcccggaggctgggccg	18	12	0	0			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr17:1198817C>T	ENST00000333813.3	+	2	759	c.420C>T	c.(418-420)gaC>gaT	p.D140D		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	140					response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCAACGTGGACGGCGCCCGGA	0.622																																						ENST00000333813.3																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15						c.(418-420)gaC>gaT		tumor suppressor candidate 5							99	115	110					17																	1198817		2090	4225	6315	SO:0001819	synonymous_variant	286753				response to biotic stimulus	integral to membrane		g.chr17:1198817C>T	AB090231	CCDS42225.1	17p13.3	2009-10-16			ENSG00000184811	ENSG00000184811			29592	protein-coding gene	gene with protein product	"located at seventeen p thirteen point three 1", "interferon induced transmembrane protein domain containing 3"	612211				12660825	Standard	NM_172367		Approved	LOST1, IFITMD3	uc002fsi.1	Q8IXB3	OTTHUMG00000132196	ENST00000333813.3:c.420C>T	17.37:g.1198817C>T							p.D140D	NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	2	759	+			140					A6NMK4	Silent	SNP	ENST00000333813.3	37	c.420C>T	CCDS42225.1																																																																																				0.622	TUSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255249.1	NM_172367		13	226	0	0	0	0.479597	0	13	226					T	1198817	C	T	1198817	2	4	13	1	0	0	0	0	0	0	0	1	16776	535	19	1		1	TUSC5	17	1198817	Silent	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08		1198817	79996393	26	431											
LUC7L3	51747	broad.mit.edu	37	chr17	48823271	48823271	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aagaagaaagagaagtcgttCacgaagtagacactcaagcc	10	8	2	4			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr17:48823271C>A	ENST00000505658.1	+	8	1073	c.884C>A	c.(883-885)tCa>tAa	p.S295*	LUC7L3_ENST00000240304.1_Nonsense_Mutation_p.S295*|LUC7L3_ENST00000544170.1_Nonsense_Mutation_p.S219*|LUC7L3_ENST00000393227.2_Nonsense_Mutation_p.S295*			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	295	Arg/Ser-rich.				mRNA splice site selection (GO:0006376)|RNA splicing (GO:0008380)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U1 snRNP (GO:0005685)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						AGAAGTCGTTCACGAAGTAGA	0.458																																						ENST00000505658.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						c.(883-885)tCa>tAa		LUC7-like 3 (S. cerevisiae)							64	63	63					17																	48823271		2203	4300	6503	SO:0001587	stop_gained	51747				apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding	g.chr17:48823271C>A		CCDS11573.1	17q21.33	2010-02-17			ENSG00000108848	ENSG00000108848			24309	protein-coding gene	gene with protein product	"cisplatin resistance associated overexpressed protein", "CRE-associated protein"	609434				10631324, 12565863	Standard	NM_016424		Approved	LUC7A, CROP, OA48-18, CREAP-1, FLJ11063, CRA, hLuc7A	uc002iss.3	O95232	OTTHUMG00000162257	ENST00000505658.1:c.884C>A	17.37:g.48823271C>A	ENSP00000425092:p.Ser295*					LUC7L3_ENST00000393227.2_Nonsense_Mutation_p.S295*|LUC7L3_ENST00000240304.1_Nonsense_Mutation_p.S295*|LUC7L3_ENST00000544170.1_Nonsense_Mutation_p.S219*	p.S295*			O95232	LC7L3_HUMAN			8	1073	+			295			Arg/Ser-rich.		B3KN54|D3DTY1|Q6PHR9|Q9NUY0|Q9P2S7	Nonsense_Mutation	SNP	ENST00000505658.1	37	c.884C>A	CCDS11573.1	.	.	.	.	.	.	.	.	.	.	C	38	6.727933	0.97792	.	.	ENSG00000108848	ENST00000505658;ENST00000393227;ENST00000240304;ENST00000544170	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.499	20.3932	0.98965	0.0:1.0:0.0:0.0	.	.	.	.	X	295;295;295;219	.	ENSP00000240304:S295X	S	+	2	0	LUC7L3	46178270	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.604000	0.74150	2.824000	0.97209	0.655000	0.94253	TCA		0.458	LUC7L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368205.2	NM_016424		6	17	1	0	2.7689e-08	0.248553	3.35802e-08	6	17					A	48823271	C	A	48823271	4	1	13	1	0	0	0	0	0	1	0	0	9084	838	29	4	914	4	LUC7L3	17	48823271	Nonsense_Mutation	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08	47624454	48823271	32371939	27	432											
UNC13D	201294	broad.mit.edu	37	chr17	73831849	73831849	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcgtgtggtcctgcacccGcttggccacctgcaaaggaa	12	14	0	0			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr17:73831849G>A	ENST00000207549.4	-	19	1985	c.1606C>T	c.(1606-1608)Cgg>Tgg	p.R536W	UNC13D_ENST00000412096.2_Missense_Mutation_p.R536W	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	536	Interaction with RAB27A.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCTGCACCCGCTTGGCCACC	0.622									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000207549.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1606-1608)Cgg>Tgg		unc-13 homolog D (C. elegans)							73	78	77					17																	73831849		2203	4300	6503	SO:0001583	missense	201294	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	g.chr17:73831849G>A	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.1606C>T	17.37:g.73831849G>A	ENSP00000207549:p.Arg536Trp					UNC13D_ENST00000412096.2_Missense_Mutation_p.R536W	p.R536W	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)		19	1985	-			536			Interaction with RAB27A.		B4DWG9|Q9H7K5	Missense_Mutation	SNP	ENST00000207549.4	37	c.1606C>T	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713370	0.48517	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	T;T	0.71222	-0.53;-0.55	4.81	-1.93	0.07594	.	0.475057	0.20803	N	0.085394	T	0.67059	0.2853	L	0.51422	1.61	0.33672	D	0.611012	D;D	0.71674	0.998;0.984	P;B	0.50970	0.655;0.42	T	0.72966	-0.4131	10	0.52906	T	0.07	-24.9033	9.9618	0.41701	0.0672:0.0:0.3373:0.5954	.	536;536	Q70J99-3;Q70J99	.;UN13D_HUMAN	W	536	ENSP00000207549:R536W;ENSP00000388093:R536W	ENSP00000207549:R536W	R	-	1	2	UNC13D	71343444	0.305000	0.24481	0.962000	0.40283	0.468000	0.32798	0.583000	0.23849	-0.224000	0.09928	0.561000	0.74099	CGG		0.622	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950		4	164	0	0	0	0.150653	0	4	164					A	73831849	G	A	73831849	3	1	13	1	0	0	0	0	1	0	0	0	16984	1086	38	1	1722	1	UNC13D	17	73831849	Missense_Mutation	SNP	G	TCGA-BJ-A0ZH-01A-11D-A10S-08	25008578	73831849	7363361	28	433											
EVI5L	115704	broad.mit.edu	37	chr19	7914210	7914210	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcatcgtgggcctgctcctCatgcaggtaggtggctgggg	16	10	2	0			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr19:7914210C>A	ENST00000270530.4	+	5	817	c.621C>A	c.(619-621)ctC>ctA	p.L207L	EVI5L_ENST00000538904.2_Silent_p.L207L	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	207	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						GCCTGCTCCTCATGCAGGTAG	0.647																																						ENST00000270530.4																			0				breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(619-621)ctC>ctA		ecotropic viral integration site 5-like							53	49	50					19																	7914210		2203	4300	6503	SO:0001819	synonymous_variant	115704					intracellular	protein binding|Rab GTPase activator activity	g.chr19:7914210C>A	BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.621C>A	19.37:g.7914210C>A						EVI5L_ENST00000538904.2_Silent_p.L207L	p.L207L	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN			5	817	+			207			Rab-GAP TBC.		B9A6I9	Silent	SNP	ENST00000270530.4	37	c.621C>A	CCDS12188.1																																																																																				0.647	EVI5L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461347.1	NM_145245		4	88	1	0	0.150653	0.150653	0.168377	4	88					A	7914210	C	A	7914210	2	1	13	1	0	0	0	0	0	0	0	1	5290	813	29	4		4	EVI5L	19	7914210	Silent	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08		7914210	51214773	29	434											
MUC16	94025	broad.mit.edu	37	chr19	9011326	9011326	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	catcacatctgttcaccattGacatagagactgttcctgtc	6	12	3	2			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr19:9011326G>C	ENST00000397910.4	-	36	39110	c.38907C>G	c.(38905-38907)gtC>gtG	p.V12969V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12971	SEA 6. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTCACCATTGACATAGAGAC	0.537																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(38905-38907)gtC>gtG		mucin 16, cell surface associated							204	176	185					19																	9011326		1988	4188	6176	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9011326G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38907C>G	19.37:g.9011326G>C							p.V12969V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			36	39110	-			12971			SEA 6.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.38907C>G	CCDS54212.1																																																																																				0.537	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		9	283	0	0	0	0.361761	0	9	283					C	9011326	G	C	9011326	2	2	13	1	0	0	0	0	0	0	0	1	9973	1277	45	4		4	MUC16	19	9011326	Silent	SNP	G	TCGA-BJ-A0ZH-01A-11D-A10S-08	1097116	9011326	50117657	30	435											
ZNF146	7705	broad.mit.edu	37	chr19	36727354	36727354	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccattcagatgtcacacctCagccagcagagaatttacag	7	12	3	2			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr19:36727354C>T	ENST00000443387.2	+	4	1004	c.12C>T	c.(10-12)ctC>ctT	p.L4L	ZNF146_ENST00000456324.1_Silent_p.L4L|ZNF565_ENST00000355114.5_Intron	NM_007145.2	NP_009076.2	Q15072	OZF_HUMAN	zinc finger protein 146	4					regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					TGTCACACCTCAGCCAGCAGA	0.418																																						ENST00000456324.1																			0				kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(10-12)ctC>ctT		zinc finger protein 146							42	43	43					19																	36727354		2203	4300	6503	SO:0001819	synonymous_variant	7705				regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding	g.chr19:36727354C>T	X70394	CCDS12492.1	19q13.1	2013-01-08				ENSG00000167635		"Zinc fingers, C2H2-type"	12931	protein-coding gene	gene with protein product		601505				10449921, 8641144	Standard	NM_001099639		Approved	OZF	uc010eeu.3	Q15072		ENST00000443387.2:c.12C>T	19.37:g.36727354C>T						ZNF146_ENST00000443387.2_Silent_p.L4L|ZNF565_ENST00000355114.5_Intron	p.L4L	NM_001099638.1|NM_001099639.1	NP_001093108.1|NP_001093109.1	Q15072	OZF_HUMAN			3	1461	+	Esophageal squamous(110;0.162)		4					Q2TB94	Silent	SNP	ENST00000443387.2	37	c.12C>T	CCDS12492.1																																																																																				0.418	ZNF146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451706.1	NM_007145		4	69	0	0	0	0.150653	0	4	69					T	36727354	C	T	36727354	2	4	13	1	0	0	0	0	0	0	0	1	17730	813	29	2		2	ZNF146	19	36727354	Silent	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08	27716028	36727354	22401629	31	436											
ZNF28	7576	broad.mit.edu	37	chr19	53303160	53303160	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tggtatacgagggatgacatCtgactgaaggtcttgccaca	12	8	2	3			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr19:53303160C>G	ENST00000457749.2	-	4	2057	c.1938G>C	c.(1936-1938)caG>caC	p.Q646H	ZNF28_ENST00000414252.2_Missense_Mutation_p.Q593H|ZNF28_ENST00000438150.2_Missense_Mutation_p.Q593H|ZNF28_ENST00000360272.4_Missense_Mutation_p.Q593H	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	646					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GGGATGACATCTGACTGAAGG	0.433																																						ENST00000438150.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1777-1779)caG>caC		zinc finger protein 28							199	188	192					19																	53303160		2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53303160C>G	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"Zinc fingers, C2H2-type", "-"	13073	protein-coding gene	gene with protein product			"zinc finger protein 28 (KOX 24)"				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1938G>C	19.37:g.53303160C>G	ENSP00000397693:p.Gln646His					ZNF28_ENST00000457749.2_Missense_Mutation_p.Q646H|ZNF28_ENST00000414252.2_Missense_Mutation_p.Q593H|ZNF28_ENST00000360272.4_Missense_Mutation_p.Q593H	p.Q593H			P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	2	2672	-			646					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.1779G>C	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	0.007	-2.009686	0.00426	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	1.81	-3.62	0.04543	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10680	0.0261	N	0.02960	-0.455	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.22243	-1.0222	9	0.12103	T	0.63	.	2.4612	0.04541	0.1308:0.4448:0.2623:0.162	.	646	P17035	ZNF28_HUMAN	H	593;646;593;593	ENSP00000412143:Q593H;ENSP00000397693:Q646H;ENSP00000353410:Q593H;ENSP00000444965:Q593H	ENSP00000353410:Q593H	Q	-	3	2	ZNF28	57994972	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-10.817000	0.00005	-1.540000	0.01730	-1.341000	0.01249	CAG		0.433	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		15	354	0	0	0	0.520397	0	15	354					G	53303160	C	G	53303160	3	3	13	1	0	0	0	0	1	0	0	0	17810	912	32	4	222	4	ZNF28	19	53303160	Missense_Mutation	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08	16575806	53303160	5825823	32	437			1	4		3	3	1617	C		1.861733e-06
ZNF28	7576	broad.mit.edu	37	chr19	53304746	53304746	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcctgtactaccagtcaactCtttgatttctgtcatgggtg	9	10	4	1			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr19:53304746C>G	ENST00000457749.2	-	4	471	c.352G>C	c.(352-354)Gag>Cag	p.E118Q	ZNF28_ENST00000339844.6_3'UTR|ZNF28_ENST00000594602.1_3'UTR|ZNF28_ENST00000414252.2_Missense_Mutation_p.E65Q|ZNF28_ENST00000438150.2_Missense_Mutation_p.E65Q|ZNF28_ENST00000360272.4_Missense_Mutation_p.E65Q	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	118					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E65*(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		CCAGTCAACTCTTTGATTTCT	0.403																																						ENST00000438150.2																			1	Substitution - Nonsense(1)	p.E65*(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(193-195)Gag>Cag		zinc finger protein 28							279	259	266					19																	53304746		2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53304746C>G	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"Zinc fingers, C2H2-type", "-"	13073	protein-coding gene	gene with protein product			"zinc finger protein 28 (KOX 24)"				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.352G>C	19.37:g.53304746C>G	ENSP00000397693:p.Glu118Gln					ZNF28_ENST00000339844.6_3'UTR|ZNF28_ENST00000594602.1_3'UTR|ZNF28_ENST00000457749.2_Missense_Mutation_p.E118Q|ZNF28_ENST00000414252.2_Missense_Mutation_p.E65Q|ZNF28_ENST00000360272.4_Missense_Mutation_p.E65Q	p.E65Q			P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	2	1086	-			118	N -> D (in Ref. 1; BAD18519).		KRAB.		A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.193G>C	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	0.899	-0.722846	0.03158	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783;ENST00000339844	T;T;T;T;T	0.08282	3.11;3.2;3.11;3.11;3.15	1.81	0.681	0.17986	.	.	.	.	.	T	0.06872	0.0175	L	0.40543	1.245	0.09310	N	1	B	0.18310	0.027	B	0.12156	0.007	T	0.36625	-0.9740	9	0.87932	D	0	.	3.6643	0.08250	0.0:0.2246:0.0:0.7754	.	118	P17035	ZNF28_HUMAN	Q	65;118;65;65;65;6	ENSP00000412143:E65Q;ENSP00000397693:E118Q;ENSP00000353410:E65Q;ENSP00000444965:E65Q;ENSP00000375661:E65Q	ENSP00000344777:E6Q	E	-	1	0	ZNF28	57996558	0.000000	0.05858	0.012000	0.15200	0.032000	0.12392	0.105000	0.15333	-0.001000	0.14495	-0.849000	0.03036	GAG		0.403	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		15	459	0	0	0	0.457914	0	15	459					G	53304746	C	G	53304746	3	3	13	1	0	0	0	0	1	0	0	0	17810	922	32	4	1808	4	ZNF28	19	53304746	Missense_Mutation	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08	1586	53304746	5824237	33	438			1	4		3	3	1617	C		1.861733e-06
ZNF28	7576	broad.mit.edu	37	chr19	53304776	53304776	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgtcatgggtgctgcatggtCatttgtttcatcttctttcc	9	9	5	0			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr19:53304776C>G	ENST00000457749.2	-	4	441	c.322G>C	c.(322-324)Gac>Cac	p.D108H	ZNF28_ENST00000339844.6_3'UTR|ZNF28_ENST00000594602.1_3'UTR|ZNF28_ENST00000414252.2_Missense_Mutation_p.D55H|ZNF28_ENST00000438150.2_Missense_Mutation_p.D55H|ZNF28_ENST00000360272.4_Missense_Mutation_p.D55H	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	108					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GCTGCATGGTCATTTGTTTCA	0.408																																						ENST00000438150.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(163-165)Gac>Cac		zinc finger protein 28							267	251	257					19																	53304776		2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53304776C>G	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"Zinc fingers, C2H2-type", "-"	13073	protein-coding gene	gene with protein product			"zinc finger protein 28 (KOX 24)"				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.322G>C	19.37:g.53304776C>G	ENSP00000397693:p.Asp108His					ZNF28_ENST00000339844.6_3'UTR|ZNF28_ENST00000594602.1_3'UTR|ZNF28_ENST00000457749.2_Missense_Mutation_p.D108H|ZNF28_ENST00000414252.2_Missense_Mutation_p.D55H|ZNF28_ENST00000360272.4_Missense_Mutation_p.D55H	p.D55H			P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	2	1056	-			108			KRAB.		A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.163G>C	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	0.012	-1.652332	0.00785	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.08008	3.14;3.25;3.14;3.14;3.18	1.81	-3.62	0.04543	.	.	.	.	.	T	0.02571	0.0078	N	0.03608	-0.345	0.09310	N	1	B	0.31790	0.34	B	0.30855	0.121	T	0.33828	-0.9853	9	0.16420	T	0.52	.	3.2709	0.06882	0.2845:0.3677:0.0:0.3478	.	108	P17035	ZNF28_HUMAN	H	55;108;55;55;55	ENSP00000412143:D55H;ENSP00000397693:D108H;ENSP00000353410:D55H;ENSP00000444965:D55H;ENSP00000375661:D55H	ENSP00000353410:D55H	D	-	1	0	ZNF28	57996588	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.519000	0.06260	-2.621000	0.00439	-0.708000	0.03648	GAC		0.408	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		12	442	0	0	0	0.411799	0	12	442					G	53304776	C	G	53304776	3	3	13	1	0	0	0	0	1	0	0	0	17810	826	29	4	1838	4	ZNF28	19	53304776	Missense_Mutation	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08	30	53304776	5824207	34	439			1	4		3	3	1617	C		1.861733e-06
MOCS3	8813	broad.mit.edu	37	chr20	49575532	49575532	+	5'Flank	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccggtgtcgccgctgccgccGaaggccgctctgtcccgaga	14	17	1	1			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr20:49575532G>A	ENST00000371588.5	-	0	0				DPM1_ENST00000371582.4_5'Flank|DPM1_ENST00000371583.5_5'Flank|MOCS3_ENST00000244051.1_Silent_p.P51P|DPM1_ENST00000466152.1_5'Flank	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						CGCTGCCGCCGAAGGCCGCTC	0.652																																						ENST00000244051.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						c.(151-153)ccG>ccA		molybdenum cofactor synthesis 3							35	42	40					20																	49575532		2192	4281	6473	SO:0001631	upstream_gene_variant	27304				enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity	g.chr20:49575532G>A	AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"Glycosyltransferase family 2 domain containing"	3005	protein-coding gene	gene with protein product	"DPM synthase complex, catalytic subunit"	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742		20.37:g.49575532G>A	Exception_encountered						p.P51P	NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN			1	170	+			51					O15157|Q6IB78|Q96HK0	Silent	SNP	ENST00000371588.5	37	c.153G>A	CCDS13434.1																																																																																				0.652	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859		4	89	0	0	0	0.248553	0	4	89					A	49575532	G	A	49575532	1	1	13	0	1	0	0	0	0	0	0	0	9692	1045	37	1		1	MOCS3	20	49575532	5'Flank	SNP	G	TCGA-BJ-A0ZH-01A-11D-A10S-08		49575532	13449988	35	440											
ARSH	347527	broad.mit.edu	37	chrX	2947386	2947386	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggggtctatctgcacaCggtcaggtggcatcagaagg	15	9	4	1			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chrX:2947386C>G	ENST00000381130.2	+	8	1298	c.1298C>G	c.(1297-1299)aCg>aGg	p.T433R		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	433					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TATCTGCACACGGTCAGGTGG	0.572																																						ENST00000381130.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34						c.(1297-1299)aCg>aGg		arylsulfatase family, member H							125	96	106					X																	2947386		2203	4300	6503	SO:0001583	missense	347527					integral to membrane	arylsulfatase activity|metal ion binding	g.chrX:2947386C>G	AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"Arylsulfatase family"	32488	protein-coding gene	gene with protein product		300586	"arylsulfatase H"			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.1298C>G	X.37:g.2947386C>G	ENSP00000370522:p.Thr433Arg						p.T433R	NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN			8	1298	+		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	433						Missense_Mutation	SNP	ENST00000381130.2	37	c.1298C>G	CCDS35198.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.440573	0.43326	.	.	ENSG00000205667	ENST00000381130	D	0.90261	-2.64	3.5	3.5	0.40072	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.214552	0.39475	U	0.001345	D	0.90628	0.7061	L	0.41124	1.26	0.28576	N	0.910362	P	0.42993	0.797	P	0.52454	0.699	D	0.86910	0.2060	10	0.66056	D	0.02	.	14.4689	0.67501	0.0:1.0:0.0:0.0	.	433	Q5FYA8	ARSH_HUMAN	R	433	ENSP00000370522:T433R	ENSP00000370522:T433R	T	+	2	0	ARSH	2957386	0.999000	0.42202	0.001000	0.08648	0.019000	0.09904	6.342000	0.72982	1.377000	0.46286	0.600000	0.82982	ACG		0.572	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719		3	222	0	0	0	0.115264	0	3	222					G	2947386	C	G	2947386	3	3	13	1	0	0	0	0	1	0	0	0	993	536	19	4	1328	4	ARSH	23	2947386	Missense_Mutation	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08		2947386	152323174	36	441											
GPRASP1	9737	broad.mit.edu	37	chrX	101910801	101910801	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gagccaaagaagaggtcagtAtgaagcatgggactggtgtc	15	6	1	3			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chrX:101910801A>T	ENST00000361600.5	+	5	2761	c.1960A>T	c.(1960-1962)Atg>Ttg	p.M654L	GPRASP1_ENST00000537097.1_Missense_Mutation_p.M654L|GPRASP1_ENST00000415986.1_Missense_Mutation_p.M654L|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.M654L	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	654	Glu-rich.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGAGGTCAGTATGAAGCATGG	0.478																																						ENST00000537097.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1960-1962)Atg>Ttg		G protein-coupled receptor associated sorting protein 1							131	121	124					X																	101910801		2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101910801A>T	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"Armadillo repeat containing"	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.1960A>T	X.37:g.101910801A>T	ENSP00000355146:p.Met654Leu					GPRASP1_ENST00000444152.1_Missense_Mutation_p.M654L|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Missense_Mutation_p.M654L|GPRASP1_ENST00000415986.1_Missense_Mutation_p.M654L	p.M654L	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN			6	2773	+			654			Glu-rich.		O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.1960A>T	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	A	10.69	1.419860	0.25552	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.09723	2.95;2.95;2.95;2.95	2.92	-1.05	0.10036	.	.	.	.	.	T	0.08358	0.0208	L	0.43152	1.355	0.09310	N	1	B	0.15141	0.012	B	0.14578	0.011	T	0.42481	-0.9449	9	0.19147	T	0.46	-5.0989	7.3746	0.26821	0.4469:0.0:0.5531:0.0	.	654	Q5JY77	GASP1_HUMAN	L	654	ENSP00000393691:M654L;ENSP00000409420:M654L;ENSP00000355146:M654L;ENSP00000445683:M654L	ENSP00000355146:M654L	M	+	1	0	GPRASP1	101797457	0.276000	0.24211	0.005000	0.12908	0.047000	0.14425	-0.238000	0.08977	-0.293000	0.08986	0.422000	0.28245	ATG		0.478	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		11	238	0	0	0	0.361761	0	11	238					T	101910801	A	T	101910801	3	4	13	1	0	0	0	0	1	0	0	0	6722	449	16	5	1962	5	GPRASP1	23	101910801	Missense_Mutation	SNP	A	TCGA-BJ-A0ZH-01A-11D-A10S-08	98963415	101910801	53359759	37	442											
TNIK	23043	broad.mit.edu	37	chr3	170784406	170784406	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccattggagcaccacatccTtagttatccggccataggtg	9	13	0	0			TCGA-BJ-A0ZJ-01A-11D-A10S-08	TCGA-BJ-A0ZJ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50437cd5-7611-4021-bba6-5a6597c8d024	219fccf2-bfd4-412a-bf0c-e865392d8b4e	g.chr3:170784406T>C	ENST00000436636.2	-	31	4162	c.3818A>G	c.(3817-3819)aAg>aGg	p.K1273R	TNIK_ENST00000369326.5_Missense_Mutation_p.K1251R|TNIK_ENST00000460047.1_Missense_Mutation_p.K1210R|TNIK_ENST00000475336.1_Missense_Mutation_p.K1181R|TNIK_ENST00000284483.8_Missense_Mutation_p.K1265R|TNIK_ENST00000470834.1_Missense_Mutation_p.K1236R|TNIK_ENST00000357327.5_Missense_Mutation_p.K1244R|TNIK_ENST00000538048.1_Missense_Mutation_p.K1225R|TNIK_ENST00000341852.6_Missense_Mutation_p.K1189R|TNIK_ENST00000488470.1_Missense_Mutation_p.K1218R|TNIK_ENST00000464785.1_5'Flank	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1273	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CACCACATCCTTAGTTATCCG	0.458																																						ENST00000436636.2																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62						c.(3817-3819)aAg>aGg		TRAF2 and NCK interacting kinase							123	117	119					3																	170784406		1937	4143	6080	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170784406T>C	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.3818A>G	3.37:g.170784406T>C	ENSP00000399511:p.Lys1273Arg					TNIK_ENST00000475336.1_Missense_Mutation_p.K1181R|TNIK_ENST00000369326.5_Missense_Mutation_p.K1251R|TNIK_ENST00000357327.5_Missense_Mutation_p.K1244R|TNIK_ENST00000341852.6_Missense_Mutation_p.K1189R|TNIK_ENST00000460047.1_Missense_Mutation_p.K1210R|TNIK_ENST00000488470.1_Missense_Mutation_p.K1218R|TNIK_ENST00000470834.1_Missense_Mutation_p.K1236R|TNIK_ENST00000284483.8_Missense_Mutation_p.K1265R|TNIK_ENST00000538048.1_Missense_Mutation_p.K1225R	p.K1273R	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		31	4162	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		1273			CNH.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.3818A>G	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.418155	0.83449	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.03889	3.77;3.77;3.77;3.77;3.77;3.77;3.77;3.77;3.77;3.77	5.97	5.97	0.96955	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.22282	0.0537	M	0.76002	2.32	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.65815	0.958;0.974;0.973;0.99;0.974;0.994;0.973;0.99;0.995	P;D;P;D;D;D;P;D;D	0.72982	0.882;0.969;0.8;0.979;0.969;0.924;0.8;0.979;0.954	T	0.00128	-1.2018	10	0.87932	D	0	.	16.4608	0.84044	0.0:0.0:0.0:1.0	.	1225;1181;1236;1210;1189;1265;1244;1218;1273	F5H5M9;Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;.;TNIK_HUMAN	R	1273;1251;1225;1189;1265;1181;1244;1210;1218;1236	ENSP00000399511:K1273R;ENSP00000358332:K1251R;ENSP00000443278:K1225R;ENSP00000345352:K1189R;ENSP00000284483:K1265R;ENSP00000418156:K1181R;ENSP00000349880:K1244R;ENSP00000418916:K1210R;ENSP00000418378:K1218R;ENSP00000419990:K1236R	ENSP00000284483:K1265R	K	-	2	0	TNIK	172267100	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.288000	0.76882	0.533000	0.62120	AAG		0.458	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		3	134	0	0	0	0.115264	0	3	134					C	170784406	T	C	170784406	3	2	14	1	0	0	0	0	1	0	0	0	16310	1609	56	3	276	3	TNIK	3	170784406	Missense_Mutation	SNP	T	TCGA-BJ-A0ZJ-01A-11D-A10S-08		170784406	27238024	1	443											
OR4A15	81328	broad.mit.edu	37	chr11	55135389	55135389	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgacaaataatctcaaattTatcactgacccttttgtttg	4	9	2	2			TCGA-BJ-A0ZJ-01A-11D-A10S-08	TCGA-BJ-A0ZJ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50437cd5-7611-4021-bba6-5a6597c8d024	219fccf2-bfd4-412a-bf0c-e865392d8b4e	g.chr11:55135389T>C	ENST00000314706.3	+	1	30	c.30T>C	c.(28-30)ttT>ttC	p.F10F		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATCTCAAATTTATCACTGACC	0.413																																						ENST00000314706.3																			0				NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						c.(28-30)ttT>ttC		olfactory receptor, family 4, subfamily A, member 15							54	48	50					11																	55135389		2201	4296	6497	SO:0001819	synonymous_variant	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135389T>C	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"GPCR / Class A : Olfactory receptors"	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.30T>C	11.37:g.55135389T>C							p.F10F	NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN			1	30	+			10					Q6IFL4|Q96R65	Silent	SNP	ENST00000314706.3	37	c.30T>C	CCDS31500.1																																																																																				0.413	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		4	78	0	0	0	0.150653	0	4	78					C	55135389	T	C	55135389	2	2	14	1	0	0	0	0	0	0	0	1	11040	1751	61	3		3	OR4A15	11	55135389	Silent	SNP	T	TCGA-BJ-A0ZJ-01A-11D-A10S-08		55135389	79871127	2	444											
CASC5	57082	broad.mit.edu	37	chr15	40913253	40913253	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatgtatctcttaaggaagAtgaaaataacagtaatatta	7	4	1	2			TCGA-BJ-A0ZJ-01A-11D-A10S-08	TCGA-BJ-A0ZJ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50437cd5-7611-4021-bba6-5a6597c8d024	219fccf2-bfd4-412a-bf0c-e865392d8b4e	g.chr15:40913253A>G	ENST00000346991.5	+	11	1259	c.869A>G	c.(868-870)gAt>gGt	p.D290G	CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Missense_Mutation_p.D264G			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	290	Interaction with BUB1 and BUB1B.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CTTAAGGAAGATGAAAATAAC	0.363																																						ENST00000346991.5																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(868-870)gAt>gGt		cancer susceptibility candidate 5							51	49	50					15																	40913253		1833	4081	5914	SO:0001583	missense	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40913253A>G	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	24054	protein-coding gene	gene with protein product	"cancer/testis antigen 29", "kinetochore null 1 homolog (C. elegans)", "blinkin, bub-linking kinetochore protein", "protein phosphatase 1, regulatory subunit 55"	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.869A>G	15.37:g.40913253A>G	ENSP00000335463:p.Asp290Gly					CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Missense_Mutation_p.D264G	p.D290G			Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	11	1259	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	290			Interaction with BUB1 and BUB1B.		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	c.869A>G	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	A	10.63	1.405228	0.25378	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.07114	3.23;3.22	5.92	3.55	0.40652	.	0.480600	0.20451	N	0.092081	T	0.10380	0.0254	M	0.61703	1.905	0.21802	N	0.999533	B;B;B	0.22003	0.01;0.01;0.063	B;B;B	0.18871	0.01;0.01;0.023	T	0.18429	-1.0337	10	0.54805	T	0.06	.	8.7411	0.34558	0.6981:0.2385:0.0634:0.0	.	264;290;264	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	G	290;264;264	ENSP00000335463:D290G;ENSP00000382576:D264G	ENSP00000260369:D264G	D	+	2	0	CASC5	38700545	0.076000	0.21285	0.460000	0.27093	0.019000	0.09904	0.541000	0.23207	0.460000	0.27045	0.383000	0.25322	GAT		0.363	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		6	93	0	0	0	0.217242	0	6	93					G	40913253	A	G	40913253	3	3	14	1	0	0	0	0	1	0	0	0	2663	333	12	3	907	3	CASC5	15	40913253	Missense_Mutation	SNP	A	TCGA-BJ-A0ZJ-01A-11D-A10S-08		40913253	61618139	3	445											
TMEM188	255919	broad.mit.edu	37	chr16	50059581	50059581	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccccgcgagttgtatccctGattcctgcggtggtttccgg	13	13	0	1			TCGA-BJ-A0ZJ-01A-11D-A10S-08	TCGA-BJ-A0ZJ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50437cd5-7611-4021-bba6-5a6597c8d024	219fccf2-bfd4-412a-bf0c-e865392d8b4e	g.chr16:50059581G>A	ENST00000427478.2	+	1	79				CNEP1R1_ENST00000458059.3_Silent_p.L15L|CNEP1R1_ENST00000565556.1_5'UTR|CNEP1R1_ENST00000562576.1_Intron|CNEP1R1_ENST00000567712.1_3'UTR	NM_001281789.1	NP_001268718.1	Q8N9A8	NEPR1_HUMAN	CTD nuclear envelope phosphatase 1 regulatory subunit 1						lipid metabolic process (GO:0006629)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of triglyceride biosynthetic process (GO:0010867)|protein localization to nucleus (GO:0034504)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|Nem1-Spo7 phosphatase complex (GO:0071595)|nuclear membrane (GO:0031965)											TTGTATCCCTGATTCCTGCGG	0.463																																						ENST00000458059.3																			0											c.(43-45)ctG>ctA		CTD nuclear envelope phosphatase 1 regulatory subunit 1							88	86	87					16																	50059581		1887	4122	6009	SO:0001627	intron_variant	255919					integral to membrane		g.chr16:50059581G>A	AK095420	CCDS45480.1, CCDS61931.1	16q12.1	2012-02-01	2012-02-01	2012-02-01	ENSG00000205423	ENSG00000205423			26759	protein-coding gene	gene with protein product	"nuclear envelope phosphatase 1-regulatory subunit 1"		"chromosome 16 open reading frame 69", "transmembrane protein 188"	C16orf69, TMEM188		22134922	Standard	NM_153261		Approved	FLJ38101, NEP1-R1	uc002eft.3	Q8N9A8		ENST00000427478.2:c.25+330G>A	16.37:g.50059581G>A						CNEP1R1_ENST00000565556.1_5'UTR|CNEP1R1_ENST00000427478.2_Intron|CNEP1R1_ENST00000567712.1_3'UTR|CNEP1R1_ENST00000562576.1_Intron	p.L15L	NM_153261.4	NP_694993.2	Q8N9A8	TM188_HUMAN			2	951	+			8	R -> G (in Ref. 2; CAI45924).				Q4G1A9|Q5H9V0|Q8NE06	Silent	SNP	ENST00000427478.2	37	c.45G>A																																																																																					0.463	CNEP1R1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153261		12	55	0	0	0	0.479597	0	12	55					A	50059581	G	A	50059581	1	1	14	0	1	0	0	0	0	0	0	0	16107	1277	45	2		2	TMEM188	16	50059581	Intron	SNP	G	TCGA-BJ-A0ZJ-01A-11D-A10S-08		50059581	40295172	4	446											
ZNF208	7757	broad.mit.edu	37	chr19	22155223	22155223	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taactaagggttgagggccaTttataggctttgccacattc	10	8	0	1			TCGA-BJ-A0ZJ-01A-11D-A10S-08	TCGA-BJ-A0ZJ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50437cd5-7611-4021-bba6-5a6597c8d024	219fccf2-bfd4-412a-bf0c-e865392d8b4e	g.chr19:22155223T>C	ENST00000397126.4	-	4	2761	c.2613A>G	c.(2611-2613)aaA>aaG	p.K871K	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	871					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K771K(2)|p.K871K(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTGAGGGCCATTTATAGGCTT	0.373																																						ENST00000397126.4																			3	Substitution - coding silent(3)	p.K771K(2)|p.K871K(1)	kidney(3)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(2611-2613)aaA>aaG		zinc finger protein 208							47	50	49					19																	22155223		2074	4231	6305	SO:0001819	synonymous_variant	7757							g.chr19:22155223T>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2613A>G	19.37:g.22155223T>C						ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	p.K871K	NM_007153.3	NP_009084.2					4	2761	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.2613A>G	CCDS54240.1																																																																																				0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		3	127	0	0	0	0.115264	0	3	127					C	22155223	T	C	22155223	2	2	14	1	0	0	0	0	0	0	0	1	17763	1490	52	3		3	ZNF208	19	22155223	Silent	SNP	T	TCGA-BJ-A0ZJ-01A-11D-A10S-08		22155223	36973760	5	447											
LILRA3	11026	broad.mit.edu	37	chr19	54802498	54802498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcacctgtgatcaggatgtCcagggggtcgctgggggccg	17	11	2	1			TCGA-BJ-A0ZJ-01A-11D-A10S-08	TCGA-BJ-A0ZJ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50437cd5-7611-4021-bba6-5a6597c8d024	219fccf2-bfd4-412a-bf0c-e865392d8b4e	g.chr19:54802498C>T	ENST00000251390.3	-	5	1034	c.943G>A	c.(943-945)Gac>Aac	p.D315N	LILRA3_ENST00000391745.1_Missense_Mutation_p.D332N|LILRA3_ENST00000391744.3_Missense_Mutation_p.D251N	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	315	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ATCAGGATGTCCAGGGGGTCG	0.672																																						ENST00000391745.1																			0				NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(994-996)Gac>Aac		leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3							22	26	25					19																	54802498		2186	4151	6337	SO:0001583	missense	0							g.chr19:54802498C>T	U91926		19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.943G>A	19.37:g.54802498C>T	ENSP00000251390:p.Asp315Asn					LILRA3_ENST00000391744.3_Missense_Mutation_p.D251N|LILRA3_ENST00000251390.3_Missense_Mutation_p.D315N	p.D332N						GBM - Glioblastoma multiforme(193;0.105)	9	1310	-	Ovarian(34;0.19)							J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	ENST00000251390.3	37	c.994G>A	CCDS12887.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803615	0.50315	.	.	ENSG00000170866	ENST00000251390;ENST00000391744;ENST00000391745	T;T;T	0.10668	2.85;2.85;2.85	2.21	2.21	0.28008	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.436516	0.16910	N	0.194525	T	0.30541	0.0768	M	0.85041	2.73	0.09310	N	0.999994	P;B	0.46859	0.885;0.19	D;B	0.64321	0.924;0.327	T	0.01557	-1.1325	10	0.51188	T	0.08	.	8.0405	0.30519	0.0:1.0:0.0:0.0	.	315;315	E7EU74;Q8N6C8	.;LIRA3_HUMAN	N	315;251;332	ENSP00000251390:D315N;ENSP00000375624:D251N;ENSP00000375625:D332N	ENSP00000251390:D315N	D	-	1	0	LILRA3	59494310	0.000000	0.05858	0.474000	0.27266	0.030000	0.12068	-0.250000	0.08830	1.576000	0.49790	0.586000	0.80456	GAC		0.672	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			4	119	0	0	0	0.150653	0	4	119					T	54802498	C	T	54802498	3	4	14	1	0	0	0	0	1	0	0	0	8786	855	30	2	388	2	LILRA3	19	54802498	Missense_Mutation	SNP	C	TCGA-BJ-A0ZJ-01A-11D-A10S-08	32647275	54802498	4326485	6	448											
LPPR4	9890	broad.mit.edu	37	chr1	99771893	99771893	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcacatccctgaggagaCtcaggaaaacataagcacct	10	11	1	2			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr1:99771893C>G	ENST00000370185.3	+	7	2116	c.1619C>G	c.(1618-1620)aCt>aGt	p.T540S	LPPR4_ENST00000370184.1_Missense_Mutation_p.T382S|LPPR4_ENST00000457765.1_Missense_Mutation_p.T482S	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		540					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CCTGAGGAGACTCAGGAAAAC	0.557																																						ENST00000370185.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72						c.(1618-1620)aCt>aGt									103	108	106					1																	99771893		2203	4300	6503	SO:0001583	missense	0						phosphatidate phosphatase activity	g.chr1:99771893C>G																												ENST00000370185.3:c.1619C>G	1.37:g.99771893C>G	ENSP00000359204:p.Thr540Ser					LPPR4_ENST00000457765.1_Missense_Mutation_p.T482S|LPPR4_ENST00000370184.1_Missense_Mutation_p.T382S	p.T540S	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	2116	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	540					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.1619C>G	CCDS757.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.770978	0.31320	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.21932	2.55;2.56;1.98	5.62	5.62	0.85841	.	0.102345	0.64402	D	0.000002	T	0.19327	0.0464	L	0.28274	0.84	0.52099	D	0.999949	D;B	0.59767	0.986;0.032	P;B	0.55391	0.775;0.017	T	0.01245	-1.1407	9	.	.	.	-31.271	19.6433	0.95764	0.0:1.0:0.0:0.0	.	482;540	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	S	540;482;540;382	ENSP00000359204:T540S;ENSP00000394913:T482S;ENSP00000359203:T382S	.	T	+	2	0	RP4-788L13.1	99544481	0.998000	0.40836	1.000000	0.80357	0.976000	0.68499	3.693000	0.54735	2.638000	0.89438	0.591000	0.81541	ACT		0.557	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			3	41	0	0	0	0.004672	0	3	41					G	99771893	C	G	99771893	3	3	15	1	0	0	0	0	1	0	0	0	8927	565	20	4	1645	4	LPPR4	1	99771893	Missense_Mutation	SNP	C	TCGA-BJ-A18Y-01A-11D-A13W-08		99771893	149478728	1	449											
PRSS38	339501	broad.mit.edu	37	chr1	228033757	228033757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaccctctgtaccctggaGtgtatgccagtgtttcctat	8	13	1	0			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr1:228033757G>A	ENST00000366757.3	+	5	853	c.829G>A	c.(829-831)Gtg>Atg	p.V277M		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	277	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GTACCCTGGAGTGTATGCCAG	0.547																																						ENST00000366757.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(829-831)Gtg>Atg		protease, serine, 38							75	75	75					1																	228033757		2203	4300	6503	SO:0001583	missense	339501				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:228033757G>A		CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"Serine peptidases / Serine peptidases"	29625	protein-coding gene	gene with protein product	"marapsin 2"					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.829G>A	1.37:g.228033757G>A	ENSP00000355719:p.Val277Met						p.V277M	NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN			5	853	+			277			Peptidase S1.		Q7RTY6	Missense_Mutation	SNP	ENST00000366757.3	37	c.829G>A	CCDS1563.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385613	0.61956	.	.	ENSG00000185888	ENST00000366757	D	0.91631	-2.88	4.21	4.21	0.49690	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.32328	N	0.006254	D	0.96728	0.8932	M	0.92459	3.31	0.32760	N	0.50529	D	0.89917	1.0	D	0.91635	0.999	D	0.98106	1.0417	10	0.87932	D	0	.	14.4345	0.67272	0.0:0.0:1.0:0.0	.	277	A1L453	PRS38_HUMAN	M	277	ENSP00000355719:V277M	ENSP00000355719:V277M	V	+	1	0	PRSS38	226100380	1.000000	0.71417	0.059000	0.19551	0.143000	0.21401	5.314000	0.65804	2.324000	0.78689	0.563000	0.77884	GTG		0.547	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091981.1	NM_183062		7	71	0	0	0	0.00308	0	7	71					A	228033757	G	A	228033757	3	1	15	1	0	0	0	0	1	0	0	0	12627	1029	36	2	847	2	PRSS38	1	228033757	Missense_Mutation	SNP	G	TCGA-BJ-A18Y-01A-11D-A13W-08	128261864	228033757	21216864	2	450											
MFSD2B	388931	broad.mit.edu	37	chr2	24245335	24245335	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacctggtcctgttctgtacAcatgcctcccagctacacga	7	15	1	0	rs377638611		TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr2:24245335A>G	ENST00000406420.3	+	9	943	c.927A>G	c.(925-927)acA>acG	p.T309T	MFSD2B_ENST00000338315.4_Silent_p.T309T	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	309					transport (GO:0006810)	integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						TGTTCTGTACACATGCCTCCC	0.607																																						ENST00000338315.4																			0				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						c.(925-927)acA>acG		major facilitator superfamily domain containing 2B							61	59	60					2																	24245335		2129	4247	6376	SO:0001819	synonymous_variant	388931				transport	integral to membrane		g.chr2:24245335A>G		CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.927A>G	2.37:g.24245335A>G						MFSD2B_ENST00000406420.3_Silent_p.T309T	p.T309T			A6NFX1	MFS2B_HUMAN			9	927	+			309					B5MC32	Silent	SNP	ENST00000406420.3	37	c.927A>G	CCDS46228.1																																																																																				0.607	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000324307.1	NM_001080473		14	20	0	0	0	0.004007	0	14	20					G	24245335	A	G	24245335	2	3	15	1	0	0	0	0	0	0	0	1	9531	146	6	3		3	MFSD2B	2	24245335	Silent	SNP	A	TCGA-BJ-A18Y-01A-11D-A13W-08		24245335	218954038	3	451											
TTC7A	57217	broad.mit.edu	37	chr2	47222329	47222329	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcctgctcctcctcatcagCgaatccatggtaagctccag	7	16	2	0			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr2:47222329C>A	ENST00000319190.5	+	8	1424	c.1056C>A	c.(1054-1056)agC>agA	p.S352R	TTC7A_ENST00000409245.1_Missense_Mutation_p.S318R|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000394850.2_Missense_Mutation_p.S352R|TTC7A_ENST00000263737.6_5'UTR	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	352					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TCCTCATCAGCGAATCCATGG	0.607																																						ENST00000319190.5																			0				breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(1054-1056)agC>agA		tetratricopeptide repeat domain 7A							167	125	139					2																	47222329		2203	4300	6503	SO:0001583	missense	57217						binding	g.chr2:47222329C>A	AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"Tetratricopeptide (TTC) repeat domain containing"	19750	protein-coding gene	gene with protein product		609332	"tetratricopeptide repeat domain 7"	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.1056C>A	2.37:g.47222329C>A	ENSP00000316699:p.Ser352Arg					TTC7A_ENST00000409245.1_Missense_Mutation_p.S318R|TTC7A_ENST00000394850.2_Missense_Mutation_p.S352R|TTC7A_ENST00000263737.6_5'UTR|TTC7A_ENST00000461601.1_3'UTR	p.S352R	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		8	1424	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	352					Q6PIX4|Q8ND67|Q9BUS3	Missense_Mutation	SNP	ENST00000319190.5	37	c.1056C>A	CCDS33193.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774120	0.69992	.	.	ENSG00000068724	ENST00000409245;ENST00000319190;ENST00000394850;ENST00000434093	T;T;T	0.36699	1.68;1.68;1.24	4.67	-2.98	0.05513	.	0.052522	0.85682	D	0.000000	T	0.51363	0.1670	M	0.70595	2.14	0.80722	D	1	D;D;D;D;D	0.69078	0.992;0.995;0.989;0.99;0.997	P;D;P;P;D	0.72075	0.862;0.947;0.754;0.737;0.976	T	0.53774	-0.8391	10	0.62326	D	0.03	-7.7181	11.4861	0.50354	0.0:0.2545:0.0:0.7455	.	352;318;352;180;318	Q2T9J9;B3KPK7;Q9ULT0;Q6P0M3;G5E9G4	.;.;TTC7A_HUMAN;.;.	R	318;352;352;179	ENSP00000386307:S318R;ENSP00000316699:S352R;ENSP00000378320:S352R	ENSP00000316699:S352R	S	+	3	2	TTC7A	47075833	0.835000	0.29415	0.989000	0.46669	0.998000	0.95712	-0.461000	0.06712	-0.460000	0.07003	0.655000	0.94253	AGC		0.607	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927		3	55	1	0	0.004672	0.004672	0.00645181	3	55					A	47222329	C	A	47222329	3	1	15	1	0	0	0	0	1	0	0	0	16709	767	27	4	1086	4	TTC7A	2	47222329	Missense_Mutation	SNP	C	TCGA-BJ-A18Y-01A-11D-A13W-08	22976994	47222329	195977044	4	452											
LRP1B	53353	broad.mit.edu	37	chr2	141259265	141259265	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgagtacctaccttataactGaccggaaggtcttgacagtc	9	10	1	3			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr2:141259265G>T	ENST00000389484.3	-	55	9812	c.8841C>A	c.(8839-8841)gtC>gtA	p.V2947V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2947	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)		CCTTATAACTGACCGGAAGGT	0.353										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.(8839-8841)gtC>gtA		low density lipoprotein receptor-related protein 1B							107	110	109					2																	141259265		2203	4299	6502	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141259265G>T	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.8841C>A	2.37:g.141259265G>T		TSP Lung(27;0.18)					p.V2947V	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)	55	9812	-		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)	2947			EGF-like 6.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.8841C>A	CCDS2182.1																																																																																				0.353	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		3	22	1	0	6.4e-05	0.004672	0.000103111	3	22					T	141259265	G	T	141259265	2	4	15	1	0	0	0	0	0	0	0	1	8955	1277	45	4		4	LRP1B	2	141259265	Silent	SNP	G	TCGA-BJ-A18Y-01A-11D-A13W-08	94036936	141259265	101940108	5	453											
RRP9	9136	broad.mit.edu	37	chr3	51969488	51969488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccacagcgtcctggtgtcCgaagctagagggccgggcag	16	12	0	1			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr3:51969488C>T	ENST00000232888.6	-	10	914	c.841G>A	c.(841-843)Gga>Aga	p.G281R		NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)	281					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		TCCTGGTGTCCGAAGCTAGAG	0.627																																						ENST00000232888.6																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21						c.(841-843)Gga>Aga		ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)							81	65	71					3																	51969488		2203	4300	6503	SO:0001583	missense	9136				rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding	g.chr3:51969488C>T	AJ001340	CCDS2837.1	3p21.31	2013-01-10	2008-02-26	2006-10-24	ENSG00000114767	ENSG00000114767		"WD repeat domain containing"	16829	protein-coding gene	gene with protein product			"RNA, U3 small nucleolar interacting protein 2"	RNU3IP2		9418896, 12032086	Standard	NM_004704		Approved	U3-55K	uc003dbw.2	O43818	OTTHUMG00000156930	ENST00000232888.6:c.841G>A	3.37:g.51969488C>T	ENSP00000232888:p.Gly281Arg						p.G281R	NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)	10	914	-			281					B2R996|Q8IZ30	Missense_Mutation	SNP	ENST00000232888.6	37	c.841G>A	CCDS2837.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287645	0.59976	.	.	ENSG00000114767	ENST00000232888	T	0.70749	-0.51	4.36	4.36	0.52297	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	0.88709	0.6510	H	0.95043	3.615	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92434	0.5956	10	0.87932	D	0	-40.9732	16.7078	0.85377	0.0:1.0:0.0:0.0	.	281	O43818	U3IP2_HUMAN	R	281	ENSP00000232888:G281R	ENSP00000232888:G281R	G	-	1	0	RRP9	51944528	1.000000	0.71417	0.975000	0.42487	0.009000	0.06853	7.083000	0.76859	2.278000	0.76064	0.561000	0.74099	GGA		0.627	RRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346637.1	NM_004704		11	33	0	0	0	0.006122	0	11	33					T	51969488	C	T	51969488	3	4	15	1	0	0	0	0	1	0	0	0	13691	661	23	1	610	1	RRP9	3	51969488	Missense_Mutation	SNP	C	TCGA-BJ-A18Y-01A-11D-A13W-08		51969488	146052942	6	454											
NDST3	9348	broad.mit.edu	37	chr4	118975673	118975673	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctcattctccattgattcGtgtgaccaaatcttccaagc	5	13	3	2	rs377531754		TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr4:118975673G>T	ENST00000296499.5	+	2	1011	c.608G>T	c.(607-609)cGt>cTt	p.R203L	NDST3_ENST00000433996.2_Missense_Mutation_p.R203L	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	203	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CCATTGATTCGTGTGACCAAA	0.358																																						ENST00000296499.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(607-609)cGt>cTt		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3							121	124	123					4																	118975673		2203	4299	6502	SO:0001583	missense	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:118975673G>T	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"Sulfotransferases, membrane-bound"	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.608G>T	4.37:g.118975673G>T	ENSP00000296499:p.Arg203Leu					NDST3_ENST00000433996.2_Missense_Mutation_p.R203L	p.R203L	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN			2	1011	+			203			Heparan sulfate N-deacetylase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	ENST00000296499.5	37	c.608G>T	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.516216	0.27123	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.46819	1.21;0.86	5.07	-2.27	0.06846	.	0.268407	0.41712	D	0.000822	T	0.38878	0.1057	L	0.56199	1.76	0.33064	D	0.534513	B;B;P	0.40302	0.042;0.006;0.712	B;B;B	0.38378	0.046;0.038;0.272	T	0.52313	-0.8592	10	0.56958	D	0.05	.	12.0683	0.53601	0.6079:0.0:0.3921:0.0	.	203;203;203	B4DI67;O95803;O95803-2	.;NDST3_HUMAN;.	L	203	ENSP00000296499:R203L;ENSP00000396625:R203L	ENSP00000296499:R203L	R	+	2	0	NDST3	119195121	0.000000	0.05858	0.900000	0.35374	0.916000	0.54674	-0.173000	0.09854	-0.434000	0.07275	-0.794000	0.03295	CGT		0.358	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		3	40	1	0	0.004672	0.004672	0.00645181	3	40					T	118975673	G	T	118975673	3	4	15	1	0	0	0	0	1	0	0	0	10257	1145	40	4	610	4	NDST3	4	118975673	Missense_Mutation	SNP	G	TCGA-BJ-A18Y-01A-11D-A13W-08		118975673	72178603	7	455											
ASB5	140458	broad.mit.edu	37	chr4	177142728	177142728	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgttgaataacggagtcacGccatctatcgtgattgcatt	10	9	2	2	rs61748176	byFrequency	TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr4:177142728G>A	ENST00000296525.3	-	4	521	c.408C>T	c.(406-408)ggC>ggT	p.G136G	ASB5_ENST00000512254.1_Silent_p.G83G|ASB5_ENST00000511879.1_5'UTR	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	136					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		ACGGAGTCACGCCATCTATCG	0.448													G|||	2	0.000399361	8e-04	0	5008	,	,		20816	0		0	False		,,,				2504	0.001					ENST00000296525.3																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34						c.(406-408)ggC>ggT		ankyrin repeat and SOCS box containing 5		G		3,4403	6.2+/-15.9	0,3,2200	114	103	107		408	-7.0	0.8	4	dbSNP_129	107	19,8581	14.0+/-48.4	0,19,4281	no	coding-synonymous	ASB5	NM_080874.3		0,22,6481	AA,AG,GG		0.2209,0.0681,0.1692		136/330	177142728	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	140458				intracellular signal transduction			g.chr4:177142728G>A	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"Ankyrin repeat domain containing"	17180	protein-coding gene	gene with protein product		615050	"ankyrin repeat and SOCS box-containing 5"				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.408C>T	4.37:g.177142728G>A						ASB5_ENST00000512254.1_Silent_p.G83G|ASB5_ENST00000511879.1_5'UTR	p.G136G	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	4	521	-		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	136					Q8N7B5	Silent	SNP	ENST00000296525.3	37	c.408C>T	CCDS3827.1																																																																																				0.448	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1			4	51	0	0	0	0.000248	0	4	51					A	177142728	G	A	177142728	2	1	15	1	0	0	0	0	0	0	0	1	1026	1074	38	1		1	ASB5	4	177142728	Silent	SNP	G	TCGA-BJ-A18Y-01A-11D-A13W-08	58167055	177142728	14011548	8	456											
CYB5R4	51167	broad.mit.edu	37	chr6	84618797	84618797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagaatggccattaaacctGctgttctgaaaggtaagtgg	12	7	1	2			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr6:84618797G>A	ENST00000369681.5	+	4	540	c.400G>A	c.(400-402)Gct>Act	p.A134T	CYB5R4_ENST00000369679.4_Missense_Mutation_p.A100T	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	134					cell development (GO:0048468)|detection of oxygen (GO:0003032)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NAD(P)H oxidase activity (GO:0016174)|NADPH-hemoprotein reductase activity (GO:0003958)|oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor (GO:0016653)			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		CATTAAACCTGCTGTTCTGAA	0.393																																					Esophageal Squamous(86;1289 1332 25971 40349 52675)	ENST00000369681.4																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(400-402)Gct>Act		cytochrome b5 reductase 4							130	116	121					6																	84618797		2203	4300	6503	SO:0001583	missense	51167				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity	g.chr6:84618797G>A	AF169803	CCDS5000.2	6q14.2	2012-09-19		2005-07-13	ENSG00000065615	ENSG00000065615	1.6.2.2		20147	protein-coding gene	gene with protein product		608343	"NADPH cytochrome B5 oxidoreductase"	NCB5OR		10611283	Standard	NM_016230		Approved	b5+b5R, dJ676J13.1	uc003pkf.3	Q7L1T6	OTTHUMG00000015118	ENST00000369681.5:c.400G>A	6.37:g.84618797G>A	ENSP00000358695:p.Ala134Thr					CYB5R4_ENST00000369679.4_Missense_Mutation_p.A100T	p.A134T	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0871)	4	540	+		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)	134					B1AEM2|Q5TGI9|Q9NUE4|Q9UHI9	Missense_Mutation	SNP	ENST00000369681.5	37	c.400G>A	CCDS5000.2	.	.	.	.	.	.	.	.	.	.	G	8.541	0.873357	0.17322	.	.	ENSG00000065615	ENST00000369681;ENST00000369679	D;D	0.84370	-1.84;-1.7	5.83	-6.32	0.01995	.	1.213010	0.05427	N	0.545185	T	0.41604	0.1166	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41197	-0.9522	10	0.22706	T	0.39	.	10.374	0.44071	0.6443:0.1051:0.2505:0.0	.	134	Q7L1T6	NB5R4_HUMAN	T	134;100	ENSP00000358695:A134T;ENSP00000358693:A100T	ENSP00000358693:A100T	A	+	1	0	CYB5R4	84675516	0.028000	0.19301	0.000000	0.03702	0.000000	0.00434	0.085000	0.14912	-2.064000	0.00888	-0.751000	0.03497	GCT		0.393	CYB5R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041362.4	NM_016230		11	26	0	0	0	0.00245	0	11	26					A	84618797	G	A	84618797	3	1	15	1	0	0	0	0	1	0	0	0	4129	1319	46	2	414	2	CYB5R4	6	84618797	Missense_Mutation	SNP	G	TCGA-BJ-A18Y-01A-11D-A13W-08		84618797	86496270	9	457											
TG	7038	broad.mit.edu	37	chr8	133899654	133899654	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgggcagccagcctgctggCtccaccttgtttgtccctgc	11	15	0	0			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr8:133899654C>T	ENST00000220616.4	+	9	2077	c.2037C>T	c.(2035-2037)ggC>ggT	p.G679G	TG_ENST00000377869.1_Silent_p.G679G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	679	Thyroglobulin type-1 6. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGCCTGCTGGCTCCACCTTGT	0.557																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(2035-2037)ggC>ggT		thyroglobulin							65	61	62					8																	133899654		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133899654C>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.2037C>T	8.37:g.133899654C>T						TG_ENST00000377869.1_Silent_p.G679G	p.G679G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	9	2077	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	679			Thyroglobulin type-1 6.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.2037C>T	CCDS34944.1																																																																																				0.557	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		10	52	0	0	0	0.006214	0	10	52					T	133899654	C	T	133899654	2	4	15	1	0	0	0	0	0	0	0	1	15810	784	28	2		2	TG	8	133899654	Silent	SNP	C	TCGA-BJ-A18Y-01A-11D-A13W-08		133899654	12464368	10	458											
ANGPTL2	23452	broad.mit.edu	37	chr9	129870595	129870595	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgatctcgtgcaggagctgcAtgtagagctgcgtgacccgc	14	11	1	3			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr9:129870595A>T	ENST00000373425.3	-	2	1033	c.416T>A	c.(415-417)aTg>aAg	p.M139K	RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000373434.1_Intron|ANGPTL2_ENST00000491991.1_5'Flank|ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373436.1_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	139					multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						CAGGAGCTGCATGTAGAGCTG	0.617																																						ENST00000373425.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						c.(415-417)aTg>aAg		angiopoietin-like 2							56	49	52					9																	129870595		2203	4300	6503	SO:0001583	missense	23452				multicellular organismal development|signal transduction	extracellular space	receptor binding	g.chr9:129870595A>T	AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"Fibrinogen C domain containing"	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.416T>A	9.37:g.129870595A>T	ENSP00000362524:p.Met139Lys					RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron|ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000259351.5_Intron	p.M139K	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN			2	1033	-			139					Q5JT58|Q8NCH7	Missense_Mutation	SNP	ENST00000373425.3	37	c.416T>A	CCDS6868.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.645315	0.87859	.	.	ENSG00000136859	ENST00000373425	T	0.35973	1.28	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.56140	0.1965	M	0.73962	2.25	0.80722	D	1	D	0.56521	0.976	P	0.60173	0.87	T	0.57306	-0.7834	10	0.39692	T	0.17	.	15.1095	0.72343	1.0:0.0:0.0:0.0	.	139	Q9UKU9	ANGL2_HUMAN	K	139	ENSP00000362524:M139K	ENSP00000362524:M139K	M	-	2	0	ANGPTL2	128910416	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.307000	0.96226	1.981000	0.57761	0.533000	0.62120	ATG		0.617	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054129.1	NM_012098		4	56	0	0	0	0.001168	0	4	56					T	129870595	A	T	129870595	3	4	15	1	0	0	0	0	1	0	0	0	614	217	8	5	1081	5	ANGPTL2	9	129870595	Missense_Mutation	SNP	A	TCGA-BJ-A18Y-01A-11D-A13W-08		129870595	11342836	11	459											
HRAS	3265	broad.mit.edu	37	chr11	533875	533875	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catggcgctgtactcctcctGgccggcggtatccaggatgt	13	13	0	0	rs28933406		TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr11:533875G>T	ENST00000451590.1	-	3	368	c.181C>A	c.(181-183)Cag>Aag	p.Q61K	HRAS_ENST00000397594.1_Missense_Mutation_p.Q61K|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61K|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61K|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61K	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61K(61)|p.Q61R(1)|p.Q61E(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TACTCCTCCTGGCCGGCGGTA	0.597		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		63	Substitution - Missense(63)	p.Q61K(61)|p.Q61R(1)|p.Q61E(1)	thyroid(23)|skin(18)|urinary_tract(8)|upper_aerodigestive_tract(4)|soft_tissue(4)|testis(2)|lung(2)|cervix(1)|kidney(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)Cag>Aag		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117	102	107					11																	533875		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533875G>T	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.181C>A	11.37:g.533875G>T	ENSP00000407586:p.Gln61Lys	HNSCC(11;0.0054)				HRAS_ENST00000451590.1_Missense_Mutation_p.Q61K|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61K|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61K|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61K	p.Q61K	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	368	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.181C>A	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855718	0.51376	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88644	0.6492	H	0.96604	3.85	0.80722	D	1	B;B	0.19073	0.033;0.012	B;B	0.19391	0.015;0.025	D	0.89618	0.3846	10	0.62326	D	0.03	.	14.8426	0.70237	0.0:0.0:1.0:0.0	rs28933406	61;61	P01112-2;P01112	.;RASH_HUMAN	K	61	ENSP00000380722:Q61K;ENSP00000380723:Q61K;ENSP00000407586:Q61K;ENSP00000388246:Q61K;ENSP00000309845:Q61K	ENSP00000309845:Q61K	Q	-	1	0	HRAS	523875	1.000000	0.71417	0.987000	0.45799	0.459000	0.32528	9.476000	0.97823	2.045000	0.60652	0.561000	0.74099	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		49	116	1	0	5.57489e-27	0.00361	9.51011e-27	49	116					T	533875	G	T	533875	3	4	15	1	0	0	0	0	1	0	0	0	7348	1357	47	4	467	4	HRAS	11	533875	Missense_Mutation	SNP	G	TCGA-BJ-A18Y-01A-11D-A13W-08		533875	134472641	12	460											
SLC22A6	9356	broad.mit.edu	37	chr11	62747391	62747391	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agccctgcaggtccatgaccAgcccatagtatgcaaagcta	9	13	0	1			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr11:62747391A>C	ENST00000377871.3	-	7	1333	c.1067T>G	c.(1066-1068)cTg>cGg	p.L356R	SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000458333.2_Missense_Mutation_p.L356R|SLC22A6_ENST00000421062.2_Missense_Mutation_p.L356R|SLC22A6_ENST00000360421.4_Missense_Mutation_p.L356R	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	356					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GTCCATGACCAGCCCATAGTA	0.502																																						ENST00000377871.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1066-1068)cTg>cGg		solute carrier family 22 (organic anion transporter), member 6							58	55	56					11																	62747391		2201	4298	6499	SO:0001583	missense	9356				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	g.chr11:62747391A>C	AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"Solute carriers"	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.1067T>G	11.37:g.62747391A>C	ENSP00000367102:p.Leu356Arg					SLC22A6_ENST00000458333.2_Missense_Mutation_p.L356R|SLC22A6_ENST00000421062.2_Missense_Mutation_p.L356R|SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000360421.4_Missense_Mutation_p.L356R	p.L356R	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN			7	1333	-			356					A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Missense_Mutation	SNP	ENST00000377871.3	37	c.1067T>G	CCDS31591.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.055786	0.76074	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871;ENST00000458333;ENST00000421062	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	4.41	4.41	0.53225	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000001	D	0.85102	0.5620	H	0.97265	3.97	0.53005	D	0.999966	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.993;0.993;0.997;0.995	D	0.89240	0.3583	10	0.87932	D	0	.	11.6251	0.51139	1.0:0.0:0.0:0.0	.	356;356;356;356	Q4U2R8-4;Q4U2R8-3;Q4U2R8;Q4U2R8-2	.;.;S22A6_HUMAN;.	R	356;335;356;356;356	ENSP00000353597:L356R;ENSP00000367102:L356R;ENSP00000396401:L356R;ENSP00000404441:L356R	ENSP00000353597:L356R	L	-	2	0	SLC22A6	62503967	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.540000	0.90641	1.829000	0.53265	0.459000	0.35465	CTG		0.502	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	NM_004790		5	117	0	0	0	0.001168	0	5	117					C	62747391	A	C	62747391	3	2	15	1	0	0	0	0	1	0	0	0	14458	188	7	5	640	5	SLC22A6	11	62747391	Missense_Mutation	SNP	A	TCGA-BJ-A18Y-01A-11D-A13W-08	62213516	62747391	72259125	13	461											
DENND5B	160518	broad.mit.edu	37	chr12	31605085	31605085	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcacccagagaagcagagAggtccattttttccacagcc	8	12	1	2			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr12:31605085A>C	ENST00000389082.5	-	5	1682	c.1418T>G	c.(1417-1419)cTc>cGc	p.L473R	DENND5B_ENST00000536562.1_Missense_Mutation_p.L508R|DENND5B_ENST00000306833.6_Missense_Mutation_p.L508R|DENND5B_ENST00000354285.4_Missense_Mutation_p.L495R|snoU13_ENST00000458765.1_RNA	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	473					positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGAAGCAGAGAGGTCCATTTT	0.468																																						ENST00000389082.5																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1417-1419)cTc>cGc		DENN/MADD domain containing 5B							162	164	163					12																	31605085		1948	4141	6089	SO:0001583	missense	160518					integral to membrane		g.chr12:31605085A>C	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"DENN/MADD domain containing"	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.1418T>G	12.37:g.31605085A>C	ENSP00000373734:p.Leu473Arg					DENND5B_ENST00000306833.6_Missense_Mutation_p.L508R|DENND5B_ENST00000354285.4_Missense_Mutation_p.L495R|DENND5B_ENST00000536562.1_Missense_Mutation_p.L508R	p.L473R	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN			5	1682	-			473					B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	c.1418T>G	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	A	11.68	1.709651	0.30322	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285;ENST00000546299	T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73	4.53	4.53	0.55603	.	0.666536	0.14147	N	0.338284	T	0.48554	0.1506	L	0.44542	1.39	0.40243	D	0.977986	P;P;B;B	0.40638	0.725;0.725;0.158;0.451	P;B;B;B	0.45998	0.5;0.382;0.078;0.212	T	0.41342	-0.9514	10	0.32370	T	0.25	-17.9575	14.0426	0.64687	1.0:0.0:0.0:0.0	.	395;495;473;508	Q6ZUT9-3;Q6ZUT9-4;Q6ZUT9;G3V1S3	.;.;DEN5B_HUMAN;.	R	473;508;508;495;425	ENSP00000373734:L473R;ENSP00000306482:L508R;ENSP00000444889:L508R;ENSP00000346238:L495R;ENSP00000442938:L425R	ENSP00000306482:L508R	L	-	2	0	DENND5B	31496352	1.000000	0.71417	0.733000	0.30861	0.693000	0.40251	4.943000	0.63554	1.891000	0.54761	0.460000	0.39030	CTC		0.468	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		9	234	0	0	0	0.004482	0	9	234					C	31605085	A	C	31605085	3	2	15	1	0	0	0	0	1	0	0	0	4437	304	11	5	2474	5	DENND5B	12	31605085	Missense_Mutation	SNP	A	TCGA-BJ-A18Y-01A-11D-A13W-08		31605085	102246810	14	462											
LPPR3	79948	broad.mit.edu	37	chr19	813360	813362	+	In_Frame_Del	DEL	TCC	TCC	-													ggccctcgtcctcctcctctTcctcctcctcctcttcctct					rs189344455		TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr19:813360_813362delTCC	ENST00000520876.3	-	8	1443_1445	c.1365_1367delGGA	c.(1363-1368)gaggaa>gaa	p.455_456EE>E	MIR3187_ENST00000583431.1_RNA|LPPR3_ENST00000359894.2_In_Frame_Del_p.483_484EE>E	NM_001270366.1	NP_001257295.1	Q6T4P5	LPPR3_HUMAN		455	Glu-rich.					integral component of membrane (GO:0016021)	phosphatidate phosphatase activity (GO:0008195)										ctcctcctcttcctcctcctcct	0.759																																						ENST00000359894.2																			0											c.(1447-1452)gaa>ga						10,2858		2,6,1426						-3.4	0.3			2	12,5844		3,6,2919	no	coding	LPPR3	NM_024888.1		5,12,4345	A1A1,A1R,RR		0.2049,0.3487,0.2522				22,8702				SO:0001651	inframe_deletion	0					integral to membrane	phosphatidate phosphatase activity	g.chr19:813360_813362delTCC																												ENST00000520876.3:c.1365_1367delGGA	19.37:g.813369_813371delTCC	ENSP00000430297:p.Glu459del					LPPR3_ENST00000520876.3_In_Frame_Del_p.EE457del	p.EE485del	NM_024888.2	NP_079164.1	Q6T4P5	LPPR3_HUMAN			7	1512_1514	-			457					Q86XQ4|Q96EH1|Q9BQF9|Q9HAJ4	In_Frame_Del	DEL	ENST00000520876.3	37	c.1449_1451delGGA	CCDS58636.1																																																																																				0.759	LPPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379096.3			2	4						2	4	---	---	---	---	-	813362	TCC	-	813360	7	5	15	1	0	1	0	1	0	0	0	0	8926	1783	62	0	793	0	LPPR3	19	813360	In_Frame_Del	DEL	TCC	TCGA-BJ-A18Y-01A-11D-A13W-08		813360	58315623	15	463											
MIA	8190	broad.mit.edu	37	chr19	41281673	41281674	+	Frame_Shift_Ins	INS	-	-	G													tagaccctatctccatggctINSgtggcccttcaggactacat					rs139650429		TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr19:41281673_41281674insG	ENST00000263369.3	+	2	310_311	c.144_145insG	c.(145-147)gtgfs	p.V49fs	RAB4B_ENST00000594800.1_5'Flank|RAB4B_ENST00000357052.2_5'Flank|MIA-RAB4B_ENST00000600729.1_Frame_Shift_Ins_p.V49fs|RAB4B-EGLN2_ENST00000594136.1_5'Flank|MIA_ENST00000594436.1_Frame_Shift_Ins_p.V49fs|MIA_ENST00000597784.1_Frame_Shift_Ins_p.V49fs	NM_006533.3	NP_006524.1	Q16674	MIA_HUMAN	melanoma inhibitory activity	49	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell proliferation (GO:0008283)	extracellular space (GO:0005615)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)	GBM - Glioblastoma multiforme(1328;0.0199)		TCTCCATGGCTGTGGCCCTTCA	0.594																																						ENST00000600729.1																			0											c.(142-147)gctggcfs																																						SO:0001589	frameshift_variant	0							g.chr19:41281673_41281674insG	X75450	CCDS12566.1	19q13.2	2012-10-15			ENSG00000261857	ENSG00000261857			7076	protein-coding gene	gene with protein product		601340				7923218, 8661134	Standard	NM_006533		Approved	CD-RAP	uc021uuu.1	Q16674		ENST00000263369.3:c.145dupG	19.37:g.41281674_41281674dupG	ENSP00000263369:p.Val49fs					MIA_ENST00000594436.1_Frame_Shift_Ins_p.G49fs|MIA_ENST00000263369.3_Frame_Shift_Ins_p.G49fs|MIA_ENST00000597784.1_Frame_Shift_Ins_p.G49fs	p.G49fs							3	566_567	+								Q6FHV3	Frame_Shift_Ins	INS	ENST00000263369.3	37	c.144_145insG	CCDS12566.1																																																																																				0.594	MIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463162.1			9	169						9	169	---	---	---	---	G	41281674	-	G	41281673	7	5	15	1	0	1	1	0	0	0	0	0	9563	1567	55	0	150	0	MIA	19	41281673	Frame_Shift_Ins	INS	-	TCGA-BJ-A18Y-01A-11D-A13W-08	40468313	41281673	17847310	16	464											
TPRX1	284355	broad.mit.edu	37	chr19	48306192	48306193	+	Frame_Shift_Ins	INS	-	-	C													cgctggggctgctgctggagINSccgccgctcccgagctagtt					rs369852848	byFrequency	TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr19:48306192_48306193insC	ENST00000322175.3	-	2	230_231	c.75_76insG	c.(73-78)cggctcfs	p.L26fs	TPRX1_ENST00000535759.1_Frame_Shift_Ins_p.L123fs|TPRX1_ENST00000543508.1_Frame_Shift_Ins_p.L26fs	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	26						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		TGCTGCTGGAGCCGCCGCTCCC	0.723																																					Esophageal Squamous(123;175 2281 3051 32395)	ENST00000535759.1																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18						c.(364-369)cgtccafs		tetra-peptide repeat homeobox 1																																				SO:0001589	frameshift_variant	284355					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48306192_48306193insC		CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"Homeoboxes / PRD class"	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.76dupG	19.37:g.48306194_48306194dupC	ENSP00000323455:p.Leu26fs					TPRX1_ENST00000322175.3_Frame_Shift_Ins_p.P26fs|TPRX1_ENST00000543508.1_Frame_Shift_Ins_p.P26fs	p.P123fs			Q8N7U7	TPRX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)	4	365_366	-		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	26			Gly-rich.		A5D8Y3|B2RPL5	Frame_Shift_Ins	INS	ENST00000322175.3	37	c.366_367insG	CCDS33066.1																																																																																				0.723	TPRX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409868.1	NM_198479		2	4						2	4	---	---	---	---	C	48306193	-	C	48306192	7	5	15	1	0	1	1	0	0	0	0	0	16419	971	34	0	1163	0	TPRX1	19	48306192	Frame_Shift_Ins	INS	-	TCGA-BJ-A18Y-01A-11D-A13W-08	7024519	48306192	10822791	17	465											
HFM1	164045	broad.mit.edu	37	chr1	91733329	91733329	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtcttctcagtatcagTtgaaaagctagtaacttcta	6	7	4	1	rs538274561	byFrequency	TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr1:91733329T>C	ENST00000370425.3	-	35	3954	c.3856A>G	c.(3856-3858)Act>Gct	p.T1286A	HFM1_ENST00000294696.5_Missense_Mutation_p.T518A|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.T965A	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1286					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TCAGTATCAGTTGAAAAGCTA	0.303																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(3856-3858)Act>Gct		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							88	91	90					1																	91733329		2203	4292	6495	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91733329T>C	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.3856A>G	1.37:g.91733329T>C	ENSP00000359454:p.Thr1286Ala					HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.T518A|HFM1_ENST00000370424.3_Missense_Mutation_p.T965A	p.T1286A	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	35	3954	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	1286					B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.3856A>G	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	T	0.568	-0.842270	0.02671	.	.	ENSG00000162669	ENST00000370425;ENST00000294696;ENST00000370424	T;T;T	0.63580	0.35;0.71;-0.05	5.09	-7.74	0.01241	.	0.970645	0.08416	N	0.949133	T	0.04003	0.0112	N	0.00483	-1.445	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.08806	-1.0704	10	0.02654	T	1	.	1.4872	0.02449	0.2046:0.2885:0.1012:0.4056	.	965;497;1286	A6NGI5;B1B0B5;A2PYH4	.;.;HFM1_HUMAN	A	1286;518;965	ENSP00000359454:T1286A;ENSP00000294696:T518A;ENSP00000359453:T965A	ENSP00000294696:T518A	T	-	1	0	HFM1	91505917	0.000000	0.05858	0.032000	0.17829	0.973000	0.67179	-0.951000	0.03885	-1.380000	0.02115	-0.323000	0.08544	ACT		0.303	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		3	36	0	0	0	1	0	3	36					C	91733329	T	C	91733329	3	2	16	1	0	0	0	0	1	0	0	0	7083	1725	60	3	471	3	HFM1	1	91733329	Missense_Mutation	SNP	T	TCGA-BJ-A18Z-01A-21D-A13W-08		91733329	157517292	1	466											
OR14C36	127066	broad.mit.edu	37	chr1	248512212	248512212	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaacatcctcattgtgaccGtcaccacctgtgacagcagc	8	14	2	2			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr1:248512212G>A	ENST00000317861.1	+	1	136	c.136G>A	c.(136-138)Gtc>Atc	p.V46I		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CATTGTGACCGTCACCACCTG	0.438																																						ENST00000317861.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						c.(136-138)Gtc>Atc		olfactory receptor, family 14, subfamily C, member 36							254	220	232					1																	248512212		2203	4300	6503	SO:0001583	missense	127066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248512212G>A	BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"GPCR / Class A : Olfactory receptors"	15026	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily BF, member 1"	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.136G>A	1.37:g.248512212G>A	ENSP00000324534:p.Val46Ile						p.V46I	NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN			1	136	+			46					Q6IEZ6	Missense_Mutation	SNP	ENST00000317861.1	37	c.136G>A	CCDS31112.1	.	.	.	.	.	.	.	.	.	.	G	7.200	0.593320	0.13875	.	.	ENSG00000177174	ENST00000317861	T	0.03035	4.07	4.05	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	0.416770	0.17250	N	0.181220	T	0.01489	0.0048	N	0.16066	0.365	0.09310	N	1	P	0.40266	0.71	B	0.28385	0.089	T	0.32402	-0.9908	10	0.02654	T	1	.	6.5902	0.22642	0.0943:0.0:0.7279:0.1779	.	46	Q8NHC7	O14CZ_HUMAN	I	46	ENSP00000324534:V46I	ENSP00000324534:V46I	V	+	1	0	OR14C36	246578835	0.000000	0.05858	0.012000	0.15200	0.344000	0.29017	-1.205000	0.03014	0.945000	0.37605	0.395000	0.25975	GTC		0.438	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	NM_001001918		11	131	0	0	0	1	0	11	131					A	248512212	G	A	248512212	3	1	16	1	0	0	0	0	1	0	0	0	10946	1145	40	1	138	1	OR14C36	1	248512212	Missense_Mutation	SNP	G	TCGA-BJ-A18Z-01A-21D-A13W-08	156778883	248512212	738409	2	467											
ARHGEF4	50649	broad.mit.edu	37	chr2	131704157	131704157	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatccactctcccagagtGctccaacgggactgaaccac	8	17	1	2			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr2:131704157G>A	ENST00000326016.5	+	4	895	c.376G>A	c.(376-378)Gct>Act	p.A126T	ARHGEF4_ENST00000392953.3_Missense_Mutation_p.A126T|ARHGEF4_ENST00000409359.1_Missense_Mutation_p.A982T|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.A126T|ARHGEF4_ENST00000428230.2_Missense_Mutation_p.A126T|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.A126T	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	126	ABR (APC-binding region) domain.				apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CTCCCAGAGTGCTCCAACGGG	0.532																																						ENST00000409359.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29						c.(2944-2946)Gct>Act		Rho guanine nucleotide exchange factor (GEF) 4							116	115	115					2																	131704157		2203	4300	6503	SO:0001583	missense	50649				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity	g.chr2:131704157G>A	AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	684	protein-coding gene	gene with protein product	"APC-stimulated guanine nucleotide exchange factor"	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.376G>A	2.37:g.131704157G>A	ENSP00000316845:p.Ala126Thr					ARHGEF4_ENST00000525839.1_Missense_Mutation_p.A126T|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.A126T|ARHGEF4_ENST00000392953.3_Missense_Mutation_p.A126T|ARHGEF4_ENST00000428230.2_Missense_Mutation_p.A126T|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.A126T	p.A982T			Q9NR80	ARHG4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.097)	4	4142	+		Prostate(154;0.055)	126					Q9HDC6|Q9UPP0	Missense_Mutation	SNP	ENST00000326016.5	37	c.2944G>A	CCDS2165.1	.	.	.	.	.	.	.	.	.	.	G	3.397	-0.123032	0.06795	.	.	ENSG00000136002	ENST00000409359;ENST00000326016;ENST00000392953;ENST00000438985;ENST00000428230;ENST00000525839;ENST00000409303	T;T;T;T;T;T;T	0.73047	0.42;-0.52;-0.67;0.61;0.61;-0.67;-0.71	4.49	3.6	0.41247	.	0.420409	0.16203	N	0.224821	T	0.64159	0.2573	L	0.29908	0.895	0.31264	N	0.692569	B;P;B;B	0.50943	0.001;0.94;0.035;0.004	B;P;B;B	0.56434	0.006;0.798;0.009;0.006	T	0.59836	-0.7379	10	0.02654	T	1	.	8.437	0.32793	0.1071:0.0:0.8929:0.0	.	126;982;126;126	E9PEM0;E7EV07;Q9NR80-4;Q9NR80	.;.;.;ARHG4_HUMAN	T	982;126;126;306;126;126;126	ENSP00000386794:A982T;ENSP00000316845:A126T;ENSP00000376680:A126T;ENSP00000389661:A306T;ENSP00000398455:A126T;ENSP00000432267:A126T;ENSP00000387285:A126T	ENSP00000316845:A126T	A	+	1	0	ARHGEF4	131420627	0.992000	0.36948	0.997000	0.53966	0.161000	0.22273	1.254000	0.32897	1.241000	0.43820	0.655000	0.94253	GCT		0.532	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4			6	120	0	0	0	1	0	6	120					A	131704157	G	A	131704157	3	1	16	1	0	0	0	0	1	0	0	0	908	1319	46	2	382	2	ARHGEF4	2	131704157	Missense_Mutation	SNP	G	TCGA-BJ-A18Z-01A-21D-A13W-08		131704157	111495216	3	468											
AOX1	316	broad.mit.edu	37	chr2	201467063	201467063	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgcatgcaagactttcTgtaaagtaagtggaaaggac	11	5	1	2			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr2:201467063T>C	ENST00000374700.2	+	6	734	c.493T>C	c.(493-495)Tgt>Cgt	p.C165R		NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	165					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)			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)	CAAGACTTTCTGTAAAGTAAG	0.448																																						ENST00000374700.2																			0				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.(493-495)Tgt>Cgt		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)						192	174	180					2																	201467063		2203	4300	6503	SO:0001583	missense	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.chr2:201467063T>C	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.493T>C	2.37:g.201467063T>C	ENSP00000363832:p.Cys165Arg						p.C165R	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN			6	734	+			165					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.493T>C	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	T	18.10	3.547602	0.65311	.	.	ENSG00000138356	ENST00000374700;ENST00000454629	T;T	0.53640	0.61;0.61	5.65	5.65	0.86999	[2Fe-2S]-binding (2);	0.049569	0.85682	D	0.000000	T	0.67468	0.2896	M	0.87547	2.89	0.80722	D	1	D	0.54601	0.967	P	0.54460	0.753	T	0.74500	-0.3645	10	0.72032	D	0.01	-15.5629	16.0399	0.80667	0.0:0.0:0.0:1.0	.	165	Q06278	ADO_HUMAN	R	165;140	ENSP00000363832:C165R;ENSP00000392485:C140R	ENSP00000363832:C165R	C	+	1	0	AOX1	201175308	1.000000	0.71417	0.991000	0.47740	0.433000	0.31745	5.488000	0.66869	2.371000	0.80710	0.533000	0.62120	TGT		0.448	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		26	67	0	0	0	1	0	26	67					C	201467063	T	C	201467063	3	2	16	1	0	0	0	0	1	0	0	0	729	1580	55	3	515	3	AOX1	2	201467063	Missense_Mutation	SNP	T	TCGA-BJ-A18Z-01A-21D-A13W-08	69762906	201467063	41732310	4	469											
GSTA2	2939	broad.mit.edu	37	chr6	52616490	52616490	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgccaacaaggtagtcttgtCcgtggctctttaagacctgg	11	10	2	1			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr6:52616490C>T	ENST00000493422.1	-	6	586	c.431G>A	c.(430-432)gGa>gAa	p.G144E		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	144	GST C-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	GTAGTCTTGTCCGTGGCTCTT	0.537																																						ENST00000493422.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(430-432)gGa>gAa		glutathione S-transferase alpha 2	Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)						138	122	127					6																	52616490		2203	4300	6503	SO:0001583	missense	2939				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52616490C>T	AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"Glutathione S-transferases / Soluble"	4627	protein-coding gene	gene with protein product		138360	"glutathione S-transferase A2"	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.431G>A	6.37:g.52616490C>T	ENSP00000420168:p.Gly144Glu						p.G144E	NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN			6	586	-	Lung NSC(77;0.118)		144			GST C-terminal.		Q12759|Q16491|Q9NTY6	Missense_Mutation	SNP	ENST00000493422.1	37	c.431G>A	CCDS4944.1	.	.	.	.	.	.	.	.	.	.	c	12.91	2.080068	0.36662	.	.	ENSG00000244067	ENST00000493422	T	0.13657	2.57	2.88	2.88	0.33553	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.146928	0.44097	N	0.000493	T	0.12475	0.0303	M	0.80332	2.49	0.31349	N	0.682737	B	0.23854	0.092	B	0.36418	0.224	T	0.06180	-1.0841	10	0.66056	D	0.02	.	11.5816	0.50894	0.0:1.0:0.0:0.0	.	144	P09210	GSTA2_HUMAN	E	144	ENSP00000420168:G144E	ENSP00000420168:G144E	G	-	2	0	GSTA2	52724449	0.795000	0.28851	0.977000	0.42913	0.690000	0.40134	3.957000	0.56730	1.629000	0.50426	0.485000	0.47835	GGA		0.537	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043589.1	NM_000846		23	115	0	0	0	1	0	23	115					T	52616490	C	T	52616490	3	4	16	1	0	0	0	0	1	0	0	0	6831	855	30	2	245	2	GSTA2	6	52616490	Missense_Mutation	SNP	C	TCGA-BJ-A18Z-01A-21D-A13W-08		52616490	118498577	5	470											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		20	67	0	0	0	1	0	20	67					T	140453136	A	T	140453136	3	4	16	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A18Z-01A-21D-A13W-08		140453136	18685527	6	471											
WNK2	65268	broad.mit.edu	37	chr9	96069101	96069101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctaggcaaagaacacagcaGtagtaattatccgggttttt	9	8	0	1			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr9:96069101G>A	ENST00000297954.4	+	27	6368	c.6368G>A	c.(6367-6369)aGt>aAt	p.S2123N	WNK2_ENST00000349097.3_Missense_Mutation_p.S1735N|WNK2_ENST00000395477.2_Missense_Mutation_p.S2086N|WNK2_ENST00000356055.3_3'UTR|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.S1698N	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2123					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GAACACAGCAGTAGTAATTAT	0.567																																						ENST00000297954.4																			0				breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(6367-6369)aGt>aAt		WNK lysine deficient protein kinase 2							522	529	526					9																	96069101		2203	4300	6503	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96069101G>A	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"serologically defined colon cancer antigen 43"	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.6368G>A	9.37:g.96069101G>A	ENSP00000297954:p.Ser2123Asn					WNK2_ENST00000395477.2_Missense_Mutation_p.S2086N|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_3'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.S1735N|WNK2_ENST00000427277.2_Missense_Mutation_p.S1698N	p.S2123N			Q9Y3S1	WNK2_HUMAN			27	6368	+			2123					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.6368G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.555860|5.555860	0.96514|0.96514	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277|ENST00000432730;ENST00000448251	T;T;T;T|.	0.79653|.	-1.29;-1.28;-0.63;-0.58|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.217720|.	0.47852|.	D|.	0.000214|.	T|T	0.68220|0.68220	0.2977|0.2977	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.983;1.0;1.0|.	P;D;D|.	0.74023|.	0.846;0.982;0.96|.	T|T	0.63274|0.63274	-0.6674|-0.6674	10|5	0.62326|.	D|.	0.03|.	.|.	19.3931|19.3931	0.94592|0.94592	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2086;2086;2123|.	Q9Y3S1-2;F8W9F9;Q9Y3S1|.	.;.;WNK2_HUMAN|.	N|I	2123;2086;1735;1698|2082;883	ENSP00000297954:S2123N;ENSP00000378860:S2086N;ENSP00000297876:S1735N;ENSP00000411181:S1698N|.	ENSP00000297954:S2123N|.	S|V	+|+	2|1	0|0	WNK2|WNK2	95108922|95108922	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.619000|9.619000	0.98369|0.98369	2.652000|2.652000	0.90054|0.90054	0.655000|0.655000	0.94253|0.94253	AGT|GTA		0.567	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		7	200	0	0	0	1	0	7	200					A	96069101	G	A	96069101	3	1	16	1	0	0	0	0	1	0	0	0	17375	1029	36	2	6359	2	WNK2	9	96069101	Missense_Mutation	SNP	G	TCGA-BJ-A18Z-01A-21D-A13W-08		96069101	45144330	7	472											
MUSK	4593	broad.mit.edu	37	chr9	113563207	113563207	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgcagacagacccagtttcaCcagtattcaccgaattctgg	8	12	3	2			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr9:113563207C>G	ENST00000374448.4	+	15	2683	c.2549C>G	c.(2548-2550)aCc>aGc	p.T850S	MUSK_ENST00000416899.2_Missense_Mutation_p.T842S|MUSK_ENST00000189978.5_Missense_Mutation_p.T850S	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	850	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CCCAGTTTCACCAGTATTCAC	0.507																																						ENST00000416899.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						c.(2524-2526)aCc>aGc		muscle, skeletal, receptor tyrosine kinase							40	38	39					9																	113563207		2023	4190	6213	SO:0001583	missense	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113563207C>G	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.2549C>G	9.37:g.113563207C>G	ENSP00000363571:p.Thr850Ser					MUSK_ENST00000189978.5_Missense_Mutation_p.T850S|MUSK_ENST00000374448.4_Missense_Mutation_p.T850S	p.T842S			O15146	MUSK_HUMAN			13	2651	+			850			Protein kinase.		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	c.2525C>G	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	C	6.627	0.484152	0.12581	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	D	0.81739	-1.53	5.62	3.73	0.42828	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.815827	0.11846	N	0.523771	T	0.55561	0.1928	N	0.01417	-0.88	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45934	-0.9227	10	0.08381	T	0.77	.	15.4013	0.74843	0.0:0.7268:0.2732:0.0	.	850	O15146	MUSK_HUMAN	S	856;850;850;764;764;848	ENSP00000363571:T850S	ENSP00000189978:T856S	T	+	2	0	MUSK	112603028	0.987000	0.35691	0.402000	0.26371	0.953000	0.61014	4.226000	0.58606	0.803000	0.34113	0.557000	0.71058	ACC		0.507	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				8	26	0	0	0	1	0	8	26					G	113563207	C	G	113563207	3	3	16	1	0	0	0	0	1	0	0	0	9989	507	18	4	2639	4	MUSK	9	113563207	Missense_Mutation	SNP	C	TCGA-BJ-A18Z-01A-21D-A13W-08	17494106	113563207	27650224	8	473											
FAM129B	64855	broad.mit.edu	37	chr9	130279165	130279165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctggcaaggtgctccttgGaggtgataatttggtccatg	14	7	0	1			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr9:130279165G>A	ENST00000373312.3	-	8	1157	c.944C>T	c.(943-945)tCc>tTc	p.S315F	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.S302F	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	315					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GTGCTCCTTGGAGGTGATAAT	0.597																																						ENST00000373312.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(943-945)tCc>tTc		family with sequence similarity 129, member B							216	205	209					9																	130279165		2203	4300	6503	SO:0001583	missense	64855						protein binding	g.chr9:130279165G>A	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"chromosome 9 open reading frame 88"	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.944C>T	9.37:g.130279165G>A	ENSP00000362409:p.Ser315Phe					FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.S302F	p.S315F	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN			8	1157	-			315					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.944C>T	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833079	0.71258	.	.	ENSG00000136830	ENST00000373314;ENST00000373312	T;T	0.28895	1.59;1.59	4.87	3.97	0.46021	.	0.180266	0.50627	D	0.000110	T	0.49695	0.1572	M	0.73962	2.25	0.36995	D	0.894964	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.55730	-0.8095	10	0.44086	T	0.13	-43.2424	7.0794	0.25223	0.094:0.1732:0.7328:0.0	.	302;315	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	F	302;315	ENSP00000362411:S302F;ENSP00000362409:S315F	ENSP00000362409:S315F	S	-	2	0	FAM129B	129318986	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.172000	0.77604	1.045000	0.40225	0.655000	0.94253	TCC		0.597	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		78	286	0	0	0	1	0	78	286					A	130279165	G	A	130279165	3	1	16	1	0	0	0	0	1	0	0	0	5437	1174	41	2	1324	2	FAM129B	9	130279165	Missense_Mutation	SNP	G	TCGA-BJ-A18Z-01A-21D-A13W-08	16715958	130279165	10934266	9	474											
LGI1	9211	broad.mit.edu	37	chr10	95556981	95556981	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttacaaatggaacggaaaCggattctactcccatcaatc	6	10	2	0			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr10:95556981C>T	ENST00000371418.4	+	8	1355	c.1095C>T	c.(1093-1095)aaC>aaT	p.N365N	LGI1_ENST00000371413.3_Intron|LGI1_ENST00000542308.1_Silent_p.N317N	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	365					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				GGAACGGAAACGGATTCTACT	0.408																																						ENST00000371418.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29						c.(1093-1095)aaC>aaT		leucine-rich, glioma inactivated 1							88	83	85					10																	95556981		2203	4300	6503	SO:0001819	synonymous_variant	9211				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	g.chr10:95556981C>T	AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"epilepsy, partial"	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.1095C>T	10.37:g.95556981C>T						LGI1_ENST00000542308.1_Silent_p.N317N|LGI1_ENST00000371413.3_Intron	p.N365N	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN			8	1355	+		Colorectal(252;0.124)	365					A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Silent	SNP	ENST00000371418.4	37	c.1095C>T	CCDS7431.1																																																																																				0.408	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049445.1	NM_005097		29	60	0	0	0	1	0	29	60					T	95556981	C	T	95556981	2	4	16	1	0	0	0	0	0	0	0	1	8751	535	19	1		1	LGI1	10	95556981	Silent	SNP	C	TCGA-BJ-A18Z-01A-21D-A13W-08		95556981	39977766	10	475											
AMPD3	272	broad.mit.edu	37	chr11	10518462	10518462	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcaacccccaagatcatcgaGagcttcacctcttccttaaa	4	15	4	2			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr11:10518462G>A	ENST00000396554.3	+	10	1902	c.1561G>A	c.(1561-1563)Gag>Aag	p.E521K	AMPD3_ENST00000444303.2_Missense_Mutation_p.E353K	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	512					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		AGATCATCGAGAGCTTCACCT	0.512																																						ENST00000444303.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25						c.(1057-1059)Gag>Aag		adenosine monophosphate deaminase 3							153	140	144					11																	10518462		2201	4294	6495	SO:0001583	missense	272				AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr11:10518462G>A	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"erythrocyte-specific AMP deaminase"	102772	"adenosine monophosphate deaminase (isoform E)"			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.1561G>A	11.37:g.10518462G>A	ENSP00000379802:p.Glu521Lys					AMPD3_ENST00000396554.3_Missense_Mutation_p.E521K	p.E353K	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN		all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)	9	1529	+			512					A0AUX0|B7Z2S2|B7Z763|B7Z877	Missense_Mutation	SNP	ENST00000396554.3	37	c.1057G>A	CCDS7802.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027440	0.35797	.	.	ENSG00000133805	ENST00000444303;ENST00000396554;ENST00000396553;ENST00000528723;ENST00000529507	T;T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42;-1.42	4.56	4.56	0.56223	Adenosine/AMP deaminase (1);	0.161278	0.53938	D	0.000051	T	0.74168	0.3681	L	0.41632	1.29	0.58432	D	0.999998	B;B;B	0.27068	0.167;0.09;0.167	B;B;B	0.30716	0.119;0.095;0.119	T	0.69522	-0.5123	10	0.13853	T	0.58	-21.9048	17.3255	0.87245	0.0:0.0:1.0:0.0	.	519;512;521	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	K	353;521;512;519;512	ENSP00000396000:E353K;ENSP00000379802:E521K;ENSP00000379801:E512K;ENSP00000436987:E519K;ENSP00000431648:E512K	ENSP00000379801:E512K	E	+	1	0	AMPD3	10475038	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	5.655000	0.67981	2.095000	0.63458	0.289000	0.19496	GAG		0.512	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480		7	159	0	0	0	1	0	7	159					A	10518462	G	A	10518462	3	1	16	1	0	0	0	0	1	0	0	0	587	943	33	2	1619	2	AMPD3	11	10518462	Missense_Mutation	SNP	G	TCGA-BJ-A18Z-01A-21D-A13W-08		10518462	124488054	11	476											
OR11G2	390439	broad.mit.edu	37	chr14	20666455	20666455	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttttattctgttgttaccCcactgcttaaccctgtgata	6	10	1	1			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr14:20666455C>T	ENST00000357366.3	+	1	961	c.961C>T	c.(961-963)Cca>Tca	p.P321S		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	321						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		tgttgttaccccactgcttaa	0.398																																						ENST00000357366.3																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(961-963)Cca>Tca		olfactory receptor, family 11, subfamily G, member 2							117	115	116					14																	20666455		2203	4300	6503	SO:0001583	missense	390439				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20666455C>T		CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"GPCR / Class A : Olfactory receptors"	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.961C>T	14.37:g.20666455C>T	ENSP00000349930:p.Pro321Ser						p.P321S	NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	961	+	all_cancers(95;0.00108)		321					Q6IF09|Q96R33	Missense_Mutation	SNP	ENST00000357366.3	37	c.961C>T	CCDS32032.1	.	.	.	.	.	.	.	.	.	.	c	18.60	3.659499	0.67586	.	.	ENSG00000196832	ENST00000357366	T	0.00330	8.08	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000204	T	0.01287	0.0042	M	0.93328	3.405	0.36360	D	0.860638	D	0.89917	1.0	D	0.97110	1.0	T	0.50136	-0.8863	10	0.72032	D	0.01	.	17.1038	0.86656	0.0:1.0:0.0:0.0	.	321	Q8NGC1	O11G2_HUMAN	S	321	ENSP00000349930:P321S	ENSP00000349930:P321S	P	+	1	0	OR11G2	19736295	0.999000	0.42202	1.000000	0.80357	0.966000	0.64601	4.404000	0.59735	2.569000	0.86673	0.655000	0.94253	CCA		0.398	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1			35	102	0	0	0	1	0	35	102					T	20666455	C	T	20666455	3	4	16	1	0	0	0	0	1	0	0	0	10925	623	22	2	963	2	OR11G2	14	20666455	Missense_Mutation	SNP	C	TCGA-BJ-A18Z-01A-21D-A13W-08		20666455	86683085	12	477											
MEGF11	84465	broad.mit.edu	37	chr15	66207904	66207904	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catgcactcacatagctgctGacacccatagccaaaggttc	7	14	1	1			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr15:66207904G>A	ENST00000409699.2	-	19	2549	c.2377C>T	c.(2377-2379)Cag>Tag	p.Q793*	MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000478721.1_5'Flank|MEGF11_ENST00000395625.2_Nonsense_Mutation_p.Q718*|MEGF11_ENST00000360698.4_Silent_p.V869V|MEGF11_ENST00000288745.3_Nonsense_Mutation_p.Q718*|MEGF11_ENST00000422354.1_Nonsense_Mutation_p.Q793*			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	793	EGF-like 14. {ECO:0000255|PROSITE- ProRule:PRU00076}.				homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						CATAGCTGCTGACACCCATAG	0.537																																						ENST00000409699.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(2377-2379)Cag>Tag		multiple EGF-like-domains 11							162	102	122					15																	66207904		2201	4299	6500	SO:0001587	stop_gained	84465					basolateral plasma membrane|integral to membrane		g.chr15:66207904G>A	AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.2377C>T	15.37:g.66207904G>A	ENSP00000386908:p.Gln793*					MEGF11_ENST00000288745.3_Nonsense_Mutation_p.Q718*|MEGF11_ENST00000360698.4_Silent_p.V869V|MEGF11_ENST00000395625.2_Nonsense_Mutation_p.Q718*|MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000422354.1_Nonsense_Mutation_p.Q793*	p.Q793*			A6BM72	MEG11_HUMAN			19	2549	-			793			EGF-like 14.		Q17R86|Q6UXS5|Q8ND91|Q96KG6	Nonsense_Mutation	SNP	ENST00000409699.2	37	c.2377C>T	CCDS10213.2	.	.	.	.	.	.	.	.	.	.	G	42	9.208064	0.99101	.	.	ENSG00000157890	ENST00000409699;ENST00000288745;ENST00000422354;ENST00000395625	.	.	.	4.48	4.48	0.54585	.	0.186077	0.25807	U	0.028175	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	13.3803	0.60762	0.0:0.0:0.8322:0.1678	.	.	.	.	X	793;718;793;718	.	ENSP00000288745:Q718X	Q	-	1	0	MEGF11	63994958	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.090000	0.71397	2.309000	0.77851	0.561000	0.74099	CAG		0.537	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	NM_032445		5	24	0	0	0	1	0	5	24					A	66207904	G	A	66207904	4	1	16	1	0	0	0	0	0	1	0	0	9461	1299	45	2	777	2	MEGF11	15	66207904	Nonsense_Mutation	SNP	G	TCGA-BJ-A18Z-01A-21D-A13W-08		66207904	36323488	13	478											
ADCY9	115	broad.mit.edu	37	chr16	4164528	4164528	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgaggaaggtgctcctggAcctcacctgggacatgacga	13	11	1	2			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr16:4164528A>C	ENST00000294016.3	-	2	1454	c.916T>G	c.(916-918)Tcc>Gcc	p.S306A		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	306					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)|cellular response to glucagon stimulus (GO:0071377)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GTGCTCCTGGACCTCACCTGG	0.612																																						ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(916-918)Tcc>Gcc		adenylate cyclase 9							86	83	84					16																	4164528		2197	4300	6497	SO:0001583	missense	115				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 plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4164528A>C	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.916T>G	16.37:g.4164528A>C	ENSP00000294016:p.Ser306Ala						p.S306A	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			2	1454	-			306					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.916T>G	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	A	14.02	2.412208	0.42817	.	.	ENSG00000162104	ENST00000294016	D	0.83250	-1.7	5.57	5.57	0.84162	.	0.061325	0.64402	N	0.000002	D	0.88070	0.6338	M	0.68317	2.08	0.52501	D	0.999959	D	0.69078	0.997	P	0.62813	0.907	D	0.85306	0.1076	10	0.15066	T	0.55	.	15.7744	0.78198	1.0:0.0:0.0:0.0	.	306	O60503	ADCY9_HUMAN	A	306	ENSP00000294016:S306A	ENSP00000294016:S306A	S	-	1	0	ADCY9	4104529	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.339000	0.96797	2.144000	0.66660	0.454000	0.30748	TCC		0.612	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			14	84	0	0	0	1	0	14	84					C	4164528	A	C	4164528	3	2	16	1	0	0	0	0	1	0	0	0	301	275	10	5	3185	5	ADCY9	16	4164528	Missense_Mutation	SNP	A	TCGA-BJ-A18Z-01A-21D-A13W-08		4164528	86190225	14	479											
BECN1	8678	broad.mit.edu	37	chr17	40967972	40967972	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gttggttttcttcagcttatCcagctgcgtctgggcataac	10	10	3	0			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr17:40967972C>A	ENST00000361523.4	-	8	916	c.784G>T	c.(784-786)Gat>Tat	p.D262Y	BECN1_ENST00000590099.1_Missense_Mutation_p.D262Y|BECN1_ENST00000438274.3_Missense_Mutation_p.D186Y	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	262					autophagic vacuole assembly (GO:0000045)|beta-amyloid metabolic process (GO:0050435)|cellular defense response (GO:0006968)|cellular response to aluminum ion (GO:0071275)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokinesis (GO:0000910)|defense response to virus (GO:0051607)|lysosome organization (GO:0007040)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|positive regulation of macroautophagy (GO:0016239)|regulation of catalytic activity (GO:0050790)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to vitamin E (GO:0033197)|viral process (GO:0016032)	dendrite (GO:0030425)|membrane (GO:0016020)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		TTCAGCTTATCCAGCTGCGTC	0.458																																						ENST00000361523.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13						c.(784-786)Gat>Tat		beclin 1, autophagy related							255	217	230					17																	40967972		2203	4300	6503	SO:0001583	missense	8678				anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding	g.chr17:40967972C>A	AF077301	CCDS11441.1	17q21	2014-02-12	2008-01-14		ENSG00000126581	ENSG00000126581			1034	protein-coding gene	gene with protein product	"ATG6 autophagy related 6 homolog (S. cerevisiae)"	604378	"beclin 1 (coiled-coil, moesin-like BCL2 interacting protein)"			9765397	Standard	NM_003766		Approved	ATG6, VPS30	uc002ibn.2	Q14457		ENST00000361523.4:c.784G>T	17.37:g.40967972C>A	ENSP00000355231:p.Asp262Tyr					BECN1_ENST00000438274.3_Missense_Mutation_p.D186Y|BECN1_ENST00000590099.1_Missense_Mutation_p.D262Y	p.D262Y	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0745)	8	916	-		Breast(137;0.00104)	262					B2R6N7|O75595|Q9UNA8	Missense_Mutation	SNP	ENST00000361523.4	37	c.784G>T	CCDS11441.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958155	0.92726	.	.	ENSG00000126581	ENST00000361523;ENST00000438274;ENST00000543382	T;T	0.50548	0.74;2.43	5.95	5.95	0.96441	.	0.109071	0.64402	D	0.000005	T	0.74913	0.3779	M	0.86864	2.845	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77557	0.972;0.99	T	0.76602	-0.2899	10	0.56958	D	0.05	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	186;262	E7EV84;Q14457	.;BECN1_HUMAN	Y	262;186;175	ENSP00000355231:D262Y;ENSP00000416173:D186Y	ENSP00000355231:D262Y	D	-	1	0	BECN1	38221498	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	7.390000	0.79816	2.824000	0.97209	0.655000	0.94253	GAT		0.458	BECN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452405.1	NM_003766		8	168	1	0	0.000274275	1	0.0002862	8	168					A	40967972	C	A	40967972	3	1	16	1	0	0	0	0	1	0	0	0	1396	855	30	4	588	4	BECN1	17	40967972	Missense_Mutation	SNP	C	TCGA-BJ-A18Z-01A-21D-A13W-08		40967972	40227238	15	480											
MAP3K3	4215	broad.mit.edu	37	chr17	61759173	61759173	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctccccctggctatgttcctGagcggcagcagcacattgcc	10	16	0	1			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr17:61759173G>A	ENST00000361733.3	+	7	870	c.550G>A	c.(550-552)Gag>Aag	p.E184K	MAP3K3_ENST00000584573.1_Missense_Mutation_p.E215K|MAP3K3_ENST00000577395.1_Missense_Mutation_p.E184K|MAP3K3_ENST00000579585.1_Missense_Mutation_p.E215K|MAP3K3_ENST00000361357.3_Missense_Mutation_p.E215K	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	184					activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CTATGTTCCTGAGCGGCAGCA	0.602																																						ENST00000361357.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(643-645)Gag>Aag		mitogen-activated protein kinase kinase kinase 3							93	89	90					17																	61759173		2203	4300	6503	SO:0001583	missense	4215				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr17:61759173G>A	U78876	CCDS32701.1, CCDS32702.1	17q	2011-06-09				ENSG00000198909		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6855	protein-coding gene	gene with protein product	"MAP/ERK kinase kinase 3", "MAPK/ERK kinase kinase 3"	602539		MEKK3		9006902	Standard	NM_002401		Approved	MAPKKK3	uc002jbf.3	Q99759		ENST00000361733.3:c.550G>A	17.37:g.61759173G>A	ENSP00000354485:p.Glu184Lys					MAP3K3_ENST00000577395.1_Missense_Mutation_p.E184K|MAP3K3_ENST00000584573.1_Missense_Mutation_p.E215K|MAP3K3_ENST00000579585.1_Missense_Mutation_p.E215K|MAP3K3_ENST00000361733.3_Missense_Mutation_p.E184K	p.E215K	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN			8	961	+			184					B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Missense_Mutation	SNP	ENST00000361733.3	37	c.643G>A	CCDS32702.1	.	.	.	.	.	.	.	.	.	.	G	36	5.866375	0.97043	.	.	ENSG00000198909	ENST00000361357;ENST00000361733	T;T	0.69806	-0.43;-0.41	5.58	5.58	0.84498	.	0.048306	0.85682	D	0.000000	T	0.77644	0.4161	M	0.72894	2.215	0.80722	D	1	P;P;P;P	0.48911	0.864;0.864;0.864;0.917	P;P;P;P	0.52909	0.52;0.52;0.52;0.713	T	0.78565	-0.2155	10	0.59425	D	0.04	.	19.9439	0.97175	0.0:0.0:1.0:0.0	.	184;152;184;215	Q1PBM3;Q96HN9;Q99759;Q99759-2	.;.;M3K3_HUMAN;.	K	215;184	ENSP00000354927:E215K;ENSP00000354485:E184K	ENSP00000354927:E215K	E	+	1	0	MAP3K3	59112905	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.772000	0.98984	2.797000	0.96272	0.561000	0.74099	GAG		0.602	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443867.1	NM_002401		14	110	0	0	0	1	0	14	110					A	61759173	G	A	61759173	3	1	16	1	0	0	0	0	1	0	0	0	9251	1291	45	2	673	2	MAP3K3	17	61759173	Missense_Mutation	SNP	G	TCGA-BJ-A18Z-01A-21D-A13W-08	20791201	61759173	19436037	16	481											
CASKIN2	57513	broad.mit.edu	37	chr17	73501926	73501926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtagctgcttgatttcccGgctggcctgggaggtggtga	16	9	0	2	rs374893748		TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr17:73501926G>A	ENST00000321617.3	-	9	1397	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	CASKIN2_ENST00000433559.2_Missense_Mutation_p.R189W|CASKIN2_ENST00000581870.1_Missense_Mutation_p.R271W	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	271						cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTGATTTCCCGGCTGGCCTGG	0.622																																						ENST00000321617.3																			0				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(811-813)Cgg>Tgg		CASK interacting protein 2		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	89	78	82		565,811	4.5	1.0	17		82	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CASKIN2	NM_001142643.1,NM_020753.3	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	189/1121,271/1203	73501926	1,13005	2203	4300	6503	SO:0001583	missense	57513					cytoplasm		g.chr17:73501926G>A	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.811C>T	17.37:g.73501926G>A	ENSP00000325355:p.Arg271Trp					CASKIN2_ENST00000581870.1_Missense_Mutation_p.R271W|CASKIN2_ENST00000433559.2_Missense_Mutation_p.R189W	p.R271W	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		9	1397	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		271					B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	ENST00000321617.3	37	c.811C>T	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.638331	0.87760	0.0	1.16E-4	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.14391	2.51;2.51	5.53	4.54	0.55810	Ankyrin repeat-containing domain (2);	0.000000	0.42172	D	0.000756	T	0.21841	0.0526	L	0.27053	0.805	0.43317	D	0.995336	D;D	0.89917	0.994;1.0	P;D	0.63283	0.715;0.913	T	0.01635	-1.1307	10	0.72032	D	0.01	.	12.6739	0.56882	0.0:0.0:0.5454:0.4546	.	189;271	Q8WXE0-2;Q8WXE0	.;CSKI2_HUMAN	W	271;189	ENSP00000325355:R271W;ENSP00000406963:R189W	ENSP00000325355:R271W	R	-	1	2	CASKIN2	71013521	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	4.655000	0.61476	1.291000	0.44653	0.655000	0.94253	CGG		0.622	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		3	37	0	0	0	1	0	3	37					A	73501926	G	A	73501926	3	1	16	1	0	0	0	0	1	0	0	0	2667	1115	39	1	2845	1	CASKIN2	17	73501926	Missense_Mutation	SNP	G	TCGA-BJ-A18Z-01A-21D-A13W-08	11742753	73501926	7693284	17	482											
KCNK6	9424	broad.mit.edu	37	chr19	38810844	38810844	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taacgcttcggggtccgccaAcgcctcggaccccgcctggg	13	17	0	0			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr19:38810844A>G	ENST00000263372.3	+	1	361	c.254A>G	c.(253-255)aAc>aGc	p.N85S		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	85					negative regulation of systemic arterial blood pressure (GO:0003085)|potassium ion transport (GO:0006813)|regulation of resting membrane potential (GO:0060075)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	GGGTCCGCCAACGCCTCGGAC	0.706																																						ENST00000263372.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17						c.(253-255)aAc>aGc		potassium channel, subfamily K, member 6	Ibutilide(DB00308)|Quinidine(DB00908)						19	23	22					19																	38810844		2199	4298	6497	SO:0001583	missense	9424					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:38810844A>G	AF117708	CCDS12513.1	19q13.1	2012-03-07				ENSG00000099337		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6281	protein-coding gene	gene with protein product		603939				10075682, 10393428, 16382106	Standard	NM_004823		Approved	K2p6.1, TWIK-2	uc002oic.3	Q9Y257		ENST00000263372.3:c.254A>G	19.37:g.38810844A>G	ENSP00000263372:p.Asn85Ser						p.N85S	NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		1	361	+	all_cancers(60;5.83e-07)		85					Q9HB47	Missense_Mutation	SNP	ENST00000263372.3	37	c.254A>G	CCDS12513.1	.	.	.	.	.	.	.	.	.	.	A	19.69	3.874261	0.72180	.	.	ENSG00000099337	ENST00000263372	T	0.23950	1.88	4.57	3.49	0.39957	.	0.656803	0.14927	N	0.290281	T	0.30198	0.0757	L	0.46157	1.445	0.31297	N	0.688711	P	0.50272	0.933	P	0.53102	0.718	T	0.10894	-1.0610	10	0.25751	T	0.34	.	7.3862	0.26884	0.8858:0.0:0.1142:0.0	.	85	Q9Y257	KCNK6_HUMAN	S	85	ENSP00000263372:N85S	ENSP00000263372:N85S	N	+	2	0	KCNK6	43502684	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.116000	0.50399	1.938000	0.56188	0.454000	0.30748	AAC		0.706	KCNK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460524.1	NM_004823		4	29	0	0	0	1	0	4	29					G	38810844	A	G	38810844	3	3	16	1	0	0	0	0	1	0	0	0	8070	43	2	3	256	3	KCNK6	19	38810844	Missense_Mutation	SNP	A	TCGA-BJ-A18Z-01A-21D-A13W-08		38810844	20318139	18	483											
LMTK3	114783	broad.mit.edu	37	chr19	49001922	49001922	+	Frame_Shift_Del	DEL	A	A	-													tgggaaggctccctctggggAaaaaggggtctcggtctcgt							TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr19:49001922delA	ENST00000600059.1	-	11	2631	c.2404delT	c.(2404-2406)tccfs	p.S802fs	LMTK3_ENST00000270238.3_Frame_Shift_Del_p.S831fs			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	802	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CCCTCTGGGGAAAAAGGGGTC	0.766																																						ENST00000600059.1																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16						c.(2404-2406)ccfs		lemur tyrosine kinase 3							2	2	2					19																	49001922		950	2390	3340	SO:0001589	frameshift_variant	114783							g.chr19:49001922delA	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 101"						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.2404delT	19.37:g.49001922delA	ENSP00000472020:p.Ser802fs					LMTK3_ENST00000270238.3_Frame_Shift_Del_p.S831fs	p.S802fs						OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	11	2631	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	Frame_Shift_Del	DEL	ENST00000600059.1	37	c.2404delT																																																																																					0.766	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		2	4						2	4	---	---	---	---	-	49001922	A	-	49001922	7	5	16	1	0	1	0	1	0	0	0	0	8860	246	9	0	1998	0	LMTK3	19	49001922	Frame_Shift_Del	DEL	A	TCGA-BJ-A18Z-01A-21D-A13W-08	10191078	49001922	10127061	19	484											
PLCG1	5335	broad.mit.edu	37	chr20	39801184	39801184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatcgactgcagctctcccGcatctaccccaagggccagc	8	18	2	0			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr20:39801184G>A	ENST00000373271.1	+	26	3434	c.3029G>A	c.(3028-3030)cGc>cAc	p.R1010H	PLCG1_ENST00000244007.3_Missense_Mutation_p.R1010H|PLCG1_ENST00000608689.1_3'UTR|PLCG1_ENST00000373272.2_Missense_Mutation_p.R1010H	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	1010	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)	p.R1010L(2)		breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CAGCTCTCCCGCATCTACCCC	0.542																																						ENST00000373272.2																			2	Substitution - Missense(2)	p.R1010L(2)	lung(2)	breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46						c.(3028-3030)cGc>cAc		phospholipase C, gamma 1							65	60	62					20																	39801184		2203	4300	6503	SO:0001583	missense	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39801184G>A	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"Pleckstrin homology (PH) domain containing", "EF-hand domain containing", "SH2 domain containing"	9065	protein-coding gene	gene with protein product		172420	"phospholipase C, gamma 1 (formerly subtype 148)"	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.3029G>A	20.37:g.39801184G>A	ENSP00000362368:p.Arg1010His					PLCG1_ENST00000244007.3_Missense_Mutation_p.R1010H|PLCG1_ENST00000461641.1_3'UTR|PLCG1_ENST00000373271.1_Missense_Mutation_p.R1010H	p.R1010H	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN			26	3434	+		Myeloproliferative disorder(115;0.00878)	1010			PI-PLC Y-box.		B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	c.3029G>A	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	G	36	5.648503	0.96714	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	D;D;D	0.83250	-1.7;-1.7;-1.7	5.82	5.82	0.92795	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.122950	0.64402	D	0.000012	D	0.94751	0.8306	H	0.96833	3.89	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	0.95808	0.8839	10	0.87932	D	0	.	20.1054	0.97890	0.0:0.0:1.0:0.0	.	1010;1010;1010	P19174-2;P19174;A2A284	.;PLCG1_HUMAN;.	H	1010	ENSP00000244007:R1010H;ENSP00000362368:R1010H;ENSP00000362369:R1010H	ENSP00000244007:R1010H	R	+	2	0	PLCG1	39234598	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.869000	0.99810	2.757000	0.94681	0.655000	0.94253	CGC		0.542	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		3	37	0	0	0	1	0	3	37					A	39801184	G	A	39801184	3	1	16	1	0	0	0	0	1	0	0	0	12035	1087	38	1	3131	1	PLCG1	20	39801184	Missense_Mutation	SNP	G	TCGA-BJ-A18Z-01A-21D-A13W-08		39801184	23224336	20	485											
GPR173	54328	broad.mit.edu	37	chrX	53106066	53106066	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttctgtgcgccacggctcttCatggaccttcagtgcactca	9	14	5	0			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chrX:53106066C>T	ENST00000332582.4	+	2	754	c.263C>T	c.(262-264)tCa>tTa	p.S88L		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	88					negative regulation of neuron migration (GO:2001223)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|gonadotropin-releasing hormone receptor activity (GO:0004968)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						CACGGCTCTTCATGGACCTTC	0.577																																						ENST00000332582.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						c.(262-264)tCa>tTa		G protein-coupled receptor 173							120	99	106					X																	53106066		2203	4300	6503	SO:0001583	missense	54328					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:53106066C>T	AB040801	CCDS14349.1	Xp11	2012-08-21	2006-02-15		ENSG00000184194	ENSG00000184194		"GPCR / Class A : Orphans"	18186	protein-coding gene	gene with protein product		300253	"G-protein coupled receptor 173", "G protein coupled receptor 173"			10833454	Standard	NM_018969		Approved	SREB3	uc004dru.3	Q9NS66	OTTHUMG00000021596	ENST00000332582.4:c.263C>T	X.37:g.53106066C>T	ENSP00000331600:p.Ser88Leu						p.S88L	NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN			2	754	+			88					B1B0A5	Missense_Mutation	SNP	ENST00000332582.4	37	c.263C>T	CCDS14349.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.078395	0.36662	.	.	ENSG00000184194	ENST00000332582	T	0.72394	-0.65	4.31	4.31	0.51392	GPCR, rhodopsin-like superfamily (1);	0.065862	0.64402	D	0.000017	T	0.58395	0.2119	L	0.34521	1.04	0.42929	D	0.994318	B	0.06786	0.001	B	0.10450	0.005	T	0.54503	-0.8284	10	0.22109	T	0.4	-5.0005	13.3442	0.60561	0.0:1.0:0.0:0.0	.	88	Q9NS66	GP173_HUMAN	L	88	ENSP00000331600:S88L	ENSP00000331600:S88L	S	+	2	0	GPR173	53122791	1.000000	0.71417	0.992000	0.48379	0.919000	0.55068	5.846000	0.69444	2.006000	0.58801	0.529000	0.55759	TCA		0.577	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056717.2	NM_018969		4	74	0	0	0	1	0	4	74					T	53106066	C	T	53106066	3	4	16	1	0	0	0	0	1	0	0	0	6671	838	29	2	265	2	GPR173	23	53106066	Missense_Mutation	SNP	C	TCGA-BJ-A18Z-01A-21D-A13W-08		53106066	102164494	21	486											
ATRX	546	broad.mit.edu	37	chrX	76856021	76856021	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcttccaccttcactaTtattgcccacacctgatcaa	2	16	3	1	rs45439799	byFrequency	TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chrX:76856021T>C	ENST00000373344.5	-	23	5793	c.5579A>G	c.(5578-5580)aAt>aGt	p.N1860S	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.N1822S	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1860			N -> S (rare polymorphism; dbSNP:rs45439799). {ECO:0000269|PubMed:8968741}.		ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ACCTTCACTATTATTGCCCAC	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T|||	11	0.00291391	0	0.0014	3775	,	,		11702	0		0.008	False		,,,				2504	0.002					ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145	GRCh37	CM950125	ATRX	M	rs45439799	c.(5578-5580)aAt>aGt		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)	T	SER/ASN,SER/ASN	2,3833		0,2,0,1630,571	179	156	164	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	5579,5465	3.4	1.0	X	dbSNP_127	164	65,6658		0,51,14,2376,1855	yes	missense,missense	ATRX	NM_000489.3,NM_138270.2	46,46	0,53,14,4006,2426	CC,CT,C,TT,T		0.9668,0.0522,0.6346	benign,benign	1860/2493,1822/2455	76856021	67,10491	2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76856021T>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5579A>G	X.37:g.76856021T>C	ENSP00000362441:p.Asn1860Ser					ATRX_ENST00000395603.3_Missense_Mutation_p.N1822S|ATRX_ENST00000480283.1_5'UTR	p.N1860S	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			23	5793	-			1860		N -> S (rare polymorphism; dbSNP:rs45439799).			D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.5579A>G	CCDS14434.1	6	0.003616636528028933	0	0.0	1	0.0027624309392265192	0	0.0	5	0.006596306068601583	T	5.672	0.308668	0.10733	5.22E-4	0.009668	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.92595	-3.07;-3.07	5.2	3.41	0.39046	SNF2-related (1);	0.422825	0.24748	N	0.035929	T	0.71945	0.3400	N	0.05078	-0.115	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.65496	-0.6154	10	0.02654	T	1	-0.5634	8.8569	0.35234	0.0:0.7457:0.0:0.2543	rs45439799;rs61752452	1822;1860	P46100-4;P46100	.;ATRX_HUMAN	S	1860;1822	ENSP00000362441:N1860S;ENSP00000378967:N1822S	ENSP00000362441:N1860S	N	-	2	0	ATRX	76742677	0.975000	0.34042	0.982000	0.44146	0.547000	0.35210	0.994000	0.29693	0.389000	0.25086	-0.499000	0.04595	AAT		0.363	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		6	119	0	0	0	1	0	6	119					C	76856021	T	C	76856021	3	2	16	1	0	0	0	0	1	0	0	0	1208	1493	52	3	1951	3	ATRX	23	76856021	Missense_Mutation	SNP	T	TCGA-BJ-A18Z-01A-21D-A13W-08	23749955	76856021	78414539	22	487											
NDUFS5	4725	broad.mit.edu	37	chr1	39494585	39494586	+	Frame_Shift_Ins	INS	-	-	TA													agatagaatatgatgatttcINSgtagagtgtttgcttcggca					rs541997196|rs372457176		TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr1:39494585_39494586insTA	ENST00000372969.3	+	2	276_277	c.189_190insTA	c.(190-192)gtafs	p.V64fs	NDUFS5_ENST00000372967.3_Frame_Shift_Ins_p.V64fs	NM_004552.2	NP_004543.1	O43920	NDUS5_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase)	64					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.93e-18)			ATGATGATTTCGTAGAGTGTTT	0.396																																						ENST00000372969.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	5						c.(187-192)tttagafs		NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase)	NADH(DB00157)																																			SO:0001589	frameshift_variant	4725				mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr1:39494585_39494586insTA	AF047434	CCDS434.1	1p34.2-p33	2011-07-04	2002-08-29		ENSG00000168653	ENSG00000168653		"Mitochondrial respiratory chain complex / Complex I"	7712	protein-coding gene	gene with protein product	"complex I 51kDa subunit", "NADH dehydrogenase [ubiquinone] iron-sulfur protein 5"	603847	"NADH dehydrogenase (ubiquinone) Fe-S protein 5 (15kD) (NADH-coenzyme Q reductase)"			9763677, 9653160	Standard	NM_004552		Approved	CI-15k	uc001ccy.3	O43920	OTTHUMG00000007497	Exception_encountered	1.37:g.39494585_39494586insTA	ENSP00000362060:p.Val64fs					NDUFS5_ENST00000372967.3_Frame_Shift_Ins_p.R64fs	p.R64fs	NM_004552.2	NP_004543.1	O43920	NDUS5_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.93e-18)		2	276_277	+	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	64						Frame_Shift_Ins	INS	ENST00000372969.3	37	c.189_190insTA	CCDS434.1																																																																																				0.396	NDUFS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019688.1	NM_004552		69	72						69	72	---	---	---	---	TA	39494586	-	TA	39494585	7	5	17	1	0	1	1	0	0	0	0	0	10295	883	31	0	191	0	NDUFS5	1	39494585	Frame_Shift_Ins	INS	-	TCGA-BJ-A191-01A-11D-A13W-08		39494585	209756036	1	488											
TNFAIP8L2	79626	broad.mit.edu	37	chr1	151131411	151131411	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcaccgcaatggctcctttGgccccagtgagctggccctg	12	15	0	1			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr1:151131411G>T	ENST00000368910.3	+	2	364	c.238G>T	c.(238-240)Ggc>Tgc	p.G80C		NM_024575.4	NP_078851.2	Q6P589	TP8L2_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 2	80					innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell activation (GO:0050868)	cytoplasm (GO:0005737)				lung(1)|skin(2)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGGCTCCTTTGGCCCCAGTGA	0.622																																						ENST00000368910.3																			0				lung(1)|skin(2)	3						c.(238-240)Ggc>Tgc		tumor necrosis factor, alpha-induced protein 8-like 2							44	41	42					1																	151131411		2203	4300	6503	SO:0001583	missense	79626				innate immune response			g.chr1:151131411G>T	BC063014	CCDS985.1	1q21.2	2008-02-05			ENSG00000163154	ENSG00000163154			26277	protein-coding gene	gene with protein product		612112					Standard	NM_024575		Approved	FLJ23467	uc001ewx.2	Q6P589	OTTHUMG00000012259	ENST00000368910.3:c.238G>T	1.37:g.151131411G>T	ENSP00000357906:p.Gly80Cys						p.G80C	NM_024575.4	NP_078851.2	Q6P589	TP8L2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		2	364	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		80					Q6I9Y0|Q9H2H7|Q9H5G2	Missense_Mutation	SNP	ENST00000368910.3	37	c.238G>T	CCDS985.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.530224	0.45073	.	.	ENSG00000163154	ENST00000368910	T	0.30182	1.54	5.67	-2.54	0.06307	.	0.403453	0.31335	N	0.007830	T	0.14184	0.0343	L	0.47716	1.5	0.33035	D	0.530648	P	0.42078	0.77	B	0.42163	0.378	T	0.10451	-1.0629	10	0.87932	D	0	-8.5457	12.6359	0.56683	0.7222:0.0:0.2778:0.0	.	80	Q6P589	TP8L2_HUMAN	C	80	ENSP00000357906:G80C	ENSP00000357906:G80C	G	+	1	0	TNFAIP8L2	149398035	0.361000	0.24972	0.039000	0.18376	0.313000	0.28021	0.721000	0.25911	-0.540000	0.06265	-0.150000	0.13652	GGC		0.622	TNFAIP8L2-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034069.2	NM_024575		7	60	1	0	7.48243e-07	0.000442599	6.18779e-05	7	60					T	151131411	G	T	151131411	3	4	17	1	0	0	0	0	1	0	0	0	16275	1348	47	4	240	4	TNFAIP8L2	1	151131411	Missense_Mutation	SNP	G	TCGA-BJ-A191-01A-11D-A13W-08	111636826	151131411	98119210	2	489											
PDCD1	5133	broad.mit.edu	37	chr2	242794494	242794494	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggggtgggctgtgggcacttCtgcccttctctctggaaggg	17	10	3	0			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr2:242794494C>T	ENST00000334409.5	-	3	517	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	150					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)		GTGGGCACTTCTGCCCTTCTC	0.677																																						ENST00000334409.5																			0				endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8						c.(448-450)Gaa>Aaa		programmed cell death 1							14	18	17					2																	242794494		2195	4292	6487	SO:0001583	missense	5133				apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity	g.chr2:242794494C>T	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.448G>A	2.37:g.242794494C>T	ENSP00000335062:p.Glu150Lys						p.E150K	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)	3	517	-		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)	150					O00517|Q8IX89	Missense_Mutation	SNP	ENST00000334409.5	37	c.448G>A	CCDS33428.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.353940	0.24512	.	.	ENSG00000188389	ENST00000334409	T	0.64260	-0.09	3.28	1.46	0.22682	.	0.253106	0.27298	N	0.020005	T	0.49898	0.1584	M	0.62723	1.935	0.09310	N	1	P	0.40000	0.698	B	0.33846	0.171	T	0.47328	-0.9126	10	0.56958	D	0.05	-7.8649	5.5708	0.17196	0.0:0.7385:0.0:0.2615	.	150	Q15116	PDCD1_HUMAN	K	150	ENSP00000335062:E150K	ENSP00000335062:E150K	E	-	1	0	PDCD1	242443167	0.009000	0.17119	0.000000	0.03702	0.063000	0.16089	1.459000	0.35234	0.398000	0.25338	0.305000	0.20034	GAA		0.677	PDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322313.1	NM_005018		9	21	0	0	0	3.86212e-05	0	9	21					T	242794494	C	T	242794494	3	4	17	1	0	0	0	0	1	0	0	0	11615	922	32	2	430	2	PDCD1	2	242794494	Missense_Mutation	SNP	C	TCGA-BJ-A191-01A-11D-A13W-08		242794494	404879	3	490											
LSAMP	4045	broad.mit.edu	37	chr3	115561414	115561414	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgctcttggattctgtgaTagtgggaggatctgtaggaa	14	4	3	1			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr3:115561414T>C	ENST00000490035.2	-	5	1160	c.661A>G	c.(661-663)Atc>Gtc	p.I221V	LSAMP_ENST00000539563.1_Missense_Mutation_p.I218V|LSAMP_ENST00000498645.1_5'UTR	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	221	Ig-like C2-type 3.				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)		GATTCTGTGATAGTGGGAGGA	0.493																																						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.(661-663)Atc>Gtc		limbic system-associated membrane protein							211	178	190					3																	115561414		2203	4300	6503	SO:0001583	missense	4045				cell adhesion|nervous system development	anchored to membrane|plasma membrane		g.chr3:115561414T>C	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.661A>G	3.37:g.115561414T>C	ENSP00000419000:p.Ile221Val					LSAMP_ENST00000539563.1_Missense_Mutation_p.I218V|LSAMP_ENST00000498645.1_5'UTR	p.I221V	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)	5	1160	-		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)	221			Ig-like C2-type 3.		Q8IV49	Missense_Mutation	SNP	ENST00000490035.2	37	c.661A>G	CCDS2982.1	.	.	.	.	.	.	.	.	.	.	T	18.33	3.600605	0.66332	.	.	ENSG00000185565	ENST00000333617;ENST00000490035;ENST00000539563	T;T;T	0.73897	-0.79;-0.79;-0.79	5.7	5.7	0.88788	Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	D	0.84651	0.5519	M	0.69185	2.1	0.58432	D	0.999999	D;P	0.53151	0.958;0.937	D;P	0.70716	0.97;0.669	D	0.85125	0.0971	10	0.51188	T	0.08	-14.7319	15.9796	0.80097	0.0:0.0:0.0:1.0	.	221;221	B2RCU8;Q13449	.;LSAMP_HUMAN	V	205;221;218	ENSP00000328455:I205V;ENSP00000419000:I221V;ENSP00000443429:I218V	ENSP00000328455:I205V	I	-	1	0	LSAMP	117044104	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	7.542000	0.82095	2.185000	0.69588	0.528000	0.53228	ATC		0.493	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	NM_002338		13	19	0	0	0	0.00010058	0	13	19					C	115561414	T	C	115561414	3	2	17	1	0	0	0	0	1	0	0	0	9048	1406	49	3	367	3	LSAMP	3	115561414	Missense_Mutation	SNP	T	TCGA-BJ-A191-01A-11D-A13W-08		115561414	82461016	4	491											
TMEM66	51669	broad.mit.edu	37	chr8	29927254	29927254	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aggatactcagagtacggtgGaggagaatactgcccgtcac	13	9	2	2			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr8:29927254G>T	ENST00000256255.6	-	3	861	c.604C>A	c.(604-606)Cca>Aca	p.P202T	TMEM66_ENST00000545648.1_Missense_Mutation_p.P30T|TMEM66_ENST00000536273.1_Missense_Mutation_p.P30T	NM_016127.4	NP_057211.4	Q96BY9	SARAF_HUMAN		202					calcium ion transport (GO:0006816)|regulation of store-operated calcium entry (GO:2001256)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		GAGTACGGTGGAGGAGAATAC	0.488																																						ENST00000256255.6																			0				endometrium(2)|large_intestine(1)|lung(11)	14						c.(604-606)Cca>Aca		transmembrane protein 66							109	95	100					8																	29927254		2203	4300	6503	SO:0001583	missense	51669					integral to membrane		g.chr8:29927254G>T																												ENST00000256255.6:c.604C>A	8.37:g.29927254G>T	ENSP00000256255:p.Pro202Thr					TMEM66_ENST00000536273.1_Missense_Mutation_p.P30T|TMEM66_ENST00000545648.1_Missense_Mutation_p.P30T	p.P202T	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)	3	861	-			202					B3KQQ4|B7Z9J1|D3DSU7|H9MHJ8|H9MHJ9|Q53HE8|Q9UNZ3|Q9Y683	Missense_Mutation	SNP	ENST00000256255.6	37	c.604C>A	CCDS6074.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.62|18.62	3.662455|3.662455	0.67700|0.67700	.|.	.|.	ENSG00000133872|ENSG00000133872	ENST00000256255;ENST00000545648;ENST00000541035;ENST00000536273;ENST00000523127;ENST00000522794|ENST00000518296	T;T;T;T;T|.	0.40756|.	1.02;1.02;1.02;1.02;1.02|.	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	0.112431|.	0.64402|.	D|.	0.000010|.	T|T	0.76364|0.76364	0.3977|0.3977	M|M	0.75447|0.75447	2.3|2.3	0.44042|0.44042	D|D	0.996771|0.996771	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.72982|.	0.979;0.979|.	T|T	0.75230|0.75230	-0.3391|-0.3391	10|5	0.17832|.	T|.	0.49|.	-31.3791|-31.3791	17.6081|17.6081	0.88045|0.88045	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	202;202|.	B3KQQ4;Q96BY9|.	.;TMM66_HUMAN|.	T|Y	202;30;166;30;100;166|71	ENSP00000256255:P202T;ENSP00000441351:P30T;ENSP00000441723:P30T;ENSP00000428323:P100T;ENSP00000429630:P166T|.	ENSP00000256255:P202T|.	P|S	-|-	1|2	0|0	TMEM66|TMEM66	30046796|30046796	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.554000|0.554000	0.35429|0.35429	4.255000|4.255000	0.58804|0.58804	2.765000|2.765000	0.95021|0.95021	0.650000|0.650000	0.86243|0.86243	CCA|TCC		0.488	TMEM66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257254.4			32	83	1	0	3.90053e-15	0.000409698	3.38299e-13	32	83					T	29927254	G	T	29927254	3	4	17	1	0	0	0	0	1	0	0	0	16192	1174	41	4	431	4	TMEM66	8	29927254	Missense_Mutation	SNP	G	TCGA-BJ-A191-01A-11D-A13W-08		29927254	116436768	5	492											
FABP4	2167	broad.mit.edu	37	chr8	82392802	82392802	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atcatgttaggtttggccatGccagccactttcctggtggc	11	11	1	0			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr8:82392802G>C	ENST00000256104.4	-	2	200	c.105C>G	c.(103-105)ggC>ggG	p.G35G	FABP4_ENST00000518669.1_Intron|RP11-157I4.4_ENST00000524085.2_RNA	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	fatty acid binding protein 4, adipocyte	35					brown fat cell differentiation (GO:0050873)|cellular response to lithium ion (GO:0071285)|cholesterol homeostasis (GO:0042632)|cytokine production (GO:0001816)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of inflammatory response (GO:0050729)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|nucleus (GO:0005634)	fatty acid binding (GO:0005504)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6			Epithelial(68;0.213)			GTTTGGCCATGCCAGCCACTT	0.413																																					NSCLC(35;550 1252 19644 48360)	ENST00000256104.4																			0				breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6						c.(103-105)ggC>ggG		fatty acid binding protein 4, adipocyte							74	68	70					8																	82392802		2203	4300	6503	SO:0001819	synonymous_variant	2167				triglyceride catabolic process	cytoplasm|nucleus|soluble fraction	fatty acid binding|protein binding|transporter activity	g.chr8:82392802G>C	J02874	CCDS6230.1	8q21.13	2013-03-01			ENSG00000170323	ENSG00000170323		"Fatty acid binding protein family"	3559	protein-coding gene	gene with protein product		600434				2481498	Standard	NM_001442		Approved	A-FABP, aP2	uc003ycd.2	P15090	OTTHUMG00000164602	ENST00000256104.4:c.105C>G	8.37:g.82392802G>C						FABP4_ENST00000518669.1_Intron|RP11-157I4.4_ENST00000524085.2_RNA	p.G35G	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	Epithelial(68;0.213)		2	200	-			35					Q6IBA1	Silent	SNP	ENST00000256104.4	37	c.105C>G	CCDS6230.1																																																																																				0.413	FABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379368.1	NM_001442		5	23	0	0	0	8.12818e-05	0	5	23					C	82392802	G	C	82392802	2	2	17	1	0	0	0	0	0	0	0	1	5359	1306	46	4		4	FABP4	8	82392802	Silent	SNP	G	TCGA-BJ-A191-01A-11D-A13W-08	52465548	82392802	63971220	6	493											
RIMS2	9699	broad.mit.edu	37	chr8	105261014	105261014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctgctcagctagtgggaCgccagactctggcaacacct	11	15	2	1			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr8:105261014C>T	ENST00000436393.2	+	25	3857	c.3616C>T	c.(3616-3618)Cgc>Tgc	p.R1206C	RIMS2_ENST00000262231.10_Missense_Mutation_p.R1027C|RIMS2_ENST00000339750.2_Missense_Mutation_p.R124C|RIMS2_ENST00000507740.1_Missense_Mutation_p.R1002C|RIMS2_ENST00000406091.3_Missense_Mutation_p.R1188C			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1250					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GCTAGTGGGACGCCAGACTCT	0.428										HNSCC(12;0.0054)																												ENST00000507740.1																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(3004-3006)Cgc>Tgc		regulating synaptic membrane exocytosis 2							96	96	96					8																	105261014		2156	4283	6439	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105261014C>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3616C>T	8.37:g.105261014C>T	ENSP00000390665:p.Arg1206Cys	HNSCC(12;0.0054)				RIMS2_ENST00000262231.10_Missense_Mutation_p.R1027C|RIMS2_ENST00000406091.3_Missense_Mutation_p.R1188C|RIMS2_ENST00000436393.2_Missense_Mutation_p.R1206C|RIMS2_ENST00000339750.2_Missense_Mutation_p.R124C	p.R1002C	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		19	3240	+			1250					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.3004C>T		.	.	.	.	.	.	.	.	.	.	C	25.1	4.597826	0.87055	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393;ENST00000523362;ENST00000339750	T;T;T;T;T;T;T	0.39229	2.17;1.94;2.01;1.09;1.96;1.89;1.85	5.34	5.34	0.76211	.	.	.	.	.	T	0.65176	0.2666	M	0.68952	2.095	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.995;1.0;1.0	D;D;D;D;D	0.79784	0.969;0.979;0.957;0.986;0.993	T	0.67389	-0.5683	9	0.87932	D	0	.	19.4079	0.94655	0.0:1.0:0.0:0.0	.	1250;1206;1027;1002;1188	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	C	1225;1188;1250;1027;1002;1195;1206;124;124	ENSP00000384892:R1188C;ENSP00000262231:R1027C;ENSP00000423559:R1002C;ENSP00000386228:R1195C;ENSP00000390665:R1206C;ENSP00000428478:R124C;ENSP00000342051:R124C	ENSP00000262231:R1027C	R	+	1	0	RIMS2	105330190	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.910000	0.69931	2.664000	0.90586	0.650000	0.86243	CGC		0.428	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		17	30	0	0	0	0.000132079	0	17	30					T	105261014	C	T	105261014	3	4	17	1	0	0	0	0	1	0	0	0	13368	536	19	1	3840	1	RIMS2	8	105261014	Missense_Mutation	SNP	C	TCGA-BJ-A191-01A-11D-A13W-08	22868212	105261014	41103008	7	494											
FREM1	158326	broad.mit.edu	37	chr9	14759843	14759843	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggcaacaaacccacattcTcacagacttcatattcggtc	6	13	2	1			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr9:14759843T>C	ENST00000380880.3	-	28	6044	c.5261A>G	c.(5260-5262)gAg>gGg	p.E1754G	FREM1_ENST00000422223.2_Missense_Mutation_p.E1754G|FREM1_ENST00000486223.1_5'UTR|FREM1_ENST00000380894.1_Missense_Mutation_p.E290G|FREM1_ENST00000380881.4_Missense_Mutation_p.E1755G			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1754	Calx-beta.				cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ACCCACATTCTCACAGACTTC	0.388																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(5263-5265)gAg>gGg		FRAS1 related extracellular matrix 1							143	133	136					9																	14759843		1859	4105	5964	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14759843T>C	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.5261A>G	9.37:g.14759843T>C	ENSP00000370262:p.Glu1754Gly					FREM1_ENST00000422223.2_Missense_Mutation_p.E1754G|FREM1_ENST00000380880.3_Missense_Mutation_p.E1754G|FREM1_ENST00000380894.1_Missense_Mutation_p.E290G|FREM1_ENST00000486223.1_5'UTR	p.E1755G			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	29	6079	-			1754			Calx-beta.		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.5264A>G	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.361384	0.82353	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880;ENST00000380892	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.86	5.86	0.93980	Na-Ca exchanger/integrin-beta4 (1);	0.101697	0.64402	D	0.000003	T	0.80879	0.4708	M	0.89904	3.07	0.51482	D	0.999928	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.84869	0.0824	10	0.72032	D	0.01	-24.6016	16.2479	0.82454	0.0:0.0:0.0:1.0	.	1754;290	Q5H8C1;B7ZBX4	FREM1_HUMAN;.	G	1755;1754;290;1754;167	ENSP00000370263:E1755G;ENSP00000412940:E1754G;ENSP00000370278:E290G;ENSP00000370262:E1754G	ENSP00000370262:E1754G	E	-	2	0	FREM1	14749843	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	5.383000	0.66219	2.241000	0.73720	0.533000	0.62120	GAG		0.388	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		20	29	0	0	0	0.000132079	0	20	29					C	14759843	T	C	14759843	3	2	17	1	0	0	0	0	1	0	0	0	6044	1551	54	3	1318	3	FREM1	9	14759843	Missense_Mutation	SNP	T	TCGA-BJ-A191-01A-11D-A13W-08		14759843	126453588	8	495											
ZNF618	114991	broad.mit.edu	37	chr9	116811046	116811046	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcactgagcgtggtcagCgggaaggagttcctgaagtt	17	7	1	2			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr9:116811046C>T	ENST00000374126.5	+	15	1563	c.1464C>T	c.(1462-1464)agC>agT	p.S488S	ZNF618_ENST00000288466.7_Silent_p.S395S|ZNF618_ENST00000470105.1_3'UTR			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	488					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(4)|lung(10)|urinary_tract(1)	16						GCGTGGTCAGCGGGAAGGAGT	0.582																																						ENST00000288466.7																			0				breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						c.(1183-1185)agC>agT		zinc finger protein 618							68	74	72					9																	116811046		2045	4181	6226	SO:0001819	synonymous_variant	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116811046C>T	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"Zinc fingers, C2H2-type"	29416	protein-coding gene	gene with protein product	"neural precursor cell expressed, developmentally down-regulated 10"					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.1464C>T	9.37:g.116811046C>T						ZNF618_ENST00000374126.5_Silent_p.S488S|ZNF618_ENST00000470105.1_3'UTR	p.S395S	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN			14	1284	+			488					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Silent	SNP	ENST00000374126.5	37	c.1185C>T																																																																																					0.582	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		33	67	0	0	0	0.000339439	0	33	67					T	116811046	C	T	116811046	2	4	17	1	0	0	0	0	0	0	0	1	18039	767	27	1		1	ZNF618	9	116811046	Silent	SNP	C	TCGA-BJ-A191-01A-11D-A13W-08	102051203	116811046	24402385	9	496											
PLXDC2	84898	broad.mit.edu	37	chr10	20500614	20500614	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gaagatgttccagtggatttGatcgtcatcggcaggactgg	14	7	1	2			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr10:20500614G>C	ENST00000377252.4	+	10	1919	c.1078G>C	c.(1078-1080)Gat>Cat	p.D360H	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Missense_Mutation_p.D311H	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	360	PSI.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CAGTGGATTTGATCGTCATCG	0.443																																						ENST00000377252.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						c.(1078-1080)Gat>Cat		plexin domain containing 2							148	131	137					10																	20500614		2203	4300	6503	SO:0001583	missense	84898					integral to membrane		g.chr10:20500614G>C	AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"tumor endothelial marker 7-related precursor"	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.1078G>C	10.37:g.20500614G>C	ENSP00000366460:p.Asp360His					PLXDC2_ENST00000377242.3_Missense_Mutation_p.D311H|PLXDC2_ENST00000377238.2_3'UTR	p.D360H	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN			10	1919	+			360			PSI.		Q96E59|Q96PD9|Q96SU9	Missense_Mutation	SNP	ENST00000377252.4	37	c.1078G>C	CCDS7132.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095513	0.76870	.	.	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000377238;ENST00000536022	T;T	0.32988	1.43;1.43	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.52581	0.1743	L	0.55017	1.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.39840	-0.9594	10	0.48119	T	0.1	.	17.5761	0.87949	0.0:0.0:1.0:0.0	.	311;360	Q6UX71-2;Q6UX71	.;PXDC2_HUMAN	H	360;311;223;346	ENSP00000366460:D360H;ENSP00000366450:D311H	ENSP00000366446:D223H	D	+	1	0	PLXDC2	20540620	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.575000	0.74018	2.885000	0.99019	0.655000	0.94253	GAT		0.443	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812		4	6	0	0	0	0.000157383	0	4	6					C	20500614	G	C	20500614	3	2	17	1	0	0	0	0	1	0	0	0	12118	1290	45	4	1116	4	PLXDC2	10	20500614	Missense_Mutation	SNP	G	TCGA-BJ-A191-01A-11D-A13W-08		20500614	115034133	10	497											
RIC3	79608	broad.mit.edu	37	chr11	8190434	8190434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcaggtgtcggcggcggctCctgccgcttcccgcgggaca	15	15	1	0			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr11:8190434C>T	ENST00000309737.6	-	1	102	c.103G>A	c.(103-105)Gag>Aag	p.E35K	RIC3_ENST00000335425.7_Missense_Mutation_p.E35K|RIC3_ENST00000343202.4_Missense_Mutation_p.E35K|RP11-379P15.1_ENST00000499752.2_lincRNA|RIC3_ENST00000425599.2_Missense_Mutation_p.E35K|RIC3_ENST00000419822.2_Missense_Mutation_p.E35K|RIC3_ENST00000539720.1_5'UTR			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	35					cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		GGCGGCGGCTCCTGCCGCTTC	0.657																																						ENST00000335425.7																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17						c.(103-105)Gag>Aag		RIC3 acetylcholine receptor chaperone							22	24	24					11																	8190434		2157	4220	6377	SO:0001583	missense	79608					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:8190434C>T		CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.103G>A	11.37:g.8190434C>T	ENSP00000308820:p.Glu35Lys					RIC3_ENST00000539720.1_5'UTR|RIC3_ENST00000309737.6_Missense_Mutation_p.E35K|RIC3_ENST00000425599.2_Missense_Mutation_p.E35K|RIC3_ENST00000419822.2_Missense_Mutation_p.E35K|RIC3_ENST00000343202.4_Missense_Mutation_p.E35K	p.E35K	NM_001135109.2	NP_001128581.1	Q7Z5B4	RIC3_HUMAN		Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)	1	156	-			35					B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	Missense_Mutation	SNP	ENST00000309737.6	37	c.103G>A	CCDS55742.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.813862	0.50527	.	.	ENSG00000166405	ENST00000335425;ENST00000343202;ENST00000309737;ENST00000543346;ENST00000425599;ENST00000531450;ENST00000419822	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	5.43	4.5	0.54988	.	0.107271	0.41097	D	0.000941	T	0.34454	0.0898	M	0.63428	1.95	0.80722	D	1	P;P;B;B;B;B	0.45474	0.649;0.859;0.078;0.403;0.16;0.16	B;P;B;B;B;B	0.45195	0.164;0.473;0.059;0.168;0.087;0.087	T	0.10870	-1.0611	10	0.14252	T	0.57	-17.7483	14.066	0.64828	0.0:0.7125:0.2875:0.0	.	35;35;35;35;35;35	B7Z1U4;B0B1U0;Q7Z5B4-2;Q7Z5B4-3;Q7Z5B4;Q7Z5B4-5	.;.;.;.;RIC3_HUMAN;.	K	35	ENSP00000344904:E35K;ENSP00000308820:E35K;ENSP00000395320:E35K;ENSP00000431658:E35K;ENSP00000404415:E35K	ENSP00000308820:E35K	E	-	1	0	RIC3	8147010	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	0.735000	0.26115	1.254000	0.44035	0.491000	0.48974	GAG		0.657	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385900.1	NM_024557		6	7	0	0	0	6.40141e-05	0	6	7					T	8190434	C	T	8190434	3	4	17	1	0	0	0	0	1	0	0	0	13354	864	30	2	1027	2	RIC3	11	8190434	Missense_Mutation	SNP	C	TCGA-BJ-A191-01A-11D-A13W-08		8190434	126816082	11	498											
ACAD10	80724	broad.mit.edu	37	chr12	112182761	112182761	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgaagcacttcatggagcaaCgtgtgtaccctgcagagcca	11	11	1	2	rs368355800		TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr12:112182761C>G	ENST00000313698.4	+	13	2184	c.2029C>G	c.(2029-2031)Cgt>Ggt	p.R677G	ACAD10_ENST00000455480.2_Missense_Mutation_p.R708G|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Missense_Mutation_p.R677G|ACAD10_ENST00000392636.2_Missense_Mutation_p.R279G	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	677						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CATGGAGCAACGTGTGTACCC	0.582																																						ENST00000455480.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						c.(2122-2124)Cgt>Ggt		acyl-CoA dehydrogenase family, member 10		C	GLY/ARG,GLY/ARG	1,4405	2.1+/-5.4	0,1,2202	63	62	62		2029,2122	2.7	0.0	12		62	0,8600		0,0,4300	no	missense,missense	ACAD10	NM_025247.5,NM_001136538.1	125,125	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	benign,benign	677/1060,708/1091	112182761	1,13005	2203	4300	6503	SO:0001583	missense	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112182761C>G	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"acyl-Coenzyme A dehydrogenase family, member 10"			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.2029C>G	12.37:g.112182761C>G	ENSP00000325137:p.Arg677Gly					ACAD10_ENST00000392636.2_Missense_Mutation_p.R279G|ACAD10_ENST00000313698.4_Missense_Mutation_p.R677G|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Missense_Mutation_p.R677G	p.R708G	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN			14	2299	+			677					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	c.2122C>G	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	C	8.159	0.789027	0.16258	2.27E-4	0.0	ENSG00000111271	ENST00000392636;ENST00000413681;ENST00000549590;ENST00000455480;ENST00000515283;ENST00000313698	D;T;D;D	0.99730	-6.56;3.28;-6.56;-6.56	5.53	2.65	0.31530	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	1.063850	0.07295	N	0.873168	D	0.98817	0.9601	M	0.62723	1.935	0.09310	N	1	B;B;B	0.15473	0.013;0.001;0.003	B;B;B	0.14023	0.009;0.004;0.01	D	0.99925	1.1280	10	0.72032	D	0.01	.	4.7976	0.13279	0.1547:0.6104:0.0:0.2349	.	708;677;677	G3XAJ0;Q6JQN1;Q6JQN1-2	.;ACD10_HUMAN;.	G	279;677;677;708;70;677	ENSP00000376411:R279G;ENSP00000446959:R677G;ENSP00000389813:R708G;ENSP00000325137:R677G	ENSP00000325137:R677G	R	+	1	0	ACAD10	110667144	0.000000	0.05858	0.001000	0.08648	0.071000	0.16799	-0.094000	0.11094	0.660000	0.30964	-0.126000	0.14955	CGT		0.582	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		57	48	0	0	0	0.000147903	0	57	48					G	112182761	C	G	112182761	3	3	17	1	0	0	0	0	1	0	0	0	108	536	19	4	2172	4	ACAD10	12	112182761	Missense_Mutation	SNP	C	TCGA-BJ-A191-01A-11D-A13W-08		112182761	21669134	12	499											
TSC22D1	8848	broad.mit.edu	37	chr13	45149845	45149845	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgttagagctgatactagcGgagatctgagcaggagtaac	13	6	1	4			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr13:45149845G>C	ENST00000458659.2	-	1	856	c.366C>G	c.(364-366)tcC>tcG	p.S122S	TSC22D1_ENST00000501704.2_Silent_p.S122S|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	122					negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S122S(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TGATACTAGCGGAGATCTGAG	0.493																																						ENST00000458659.2																			1	Substitution - coding silent(1)	p.S122S(1)	lung(1)	breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(364-366)tcC>tcG		TSC22 domain family, member 1							118	118	118					13																	45149845		2203	4300	6503	SO:0001819	synonymous_variant	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45149845G>C	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"transforming growth factor beta 1 induced transcript 4"	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.366C>G	13.37:g.45149845G>C						TSC22D1_ENST00000501704.2_Silent_p.S122S	p.S122S	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	856	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	122					B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Silent	SNP	ENST00000458659.2	37	c.366C>G	CCDS31966.1																																																																																				0.493	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		127	151	0	0	0	0.000147903	0	127	151					C	45149845	G	C	45149845	2	2	17	1	0	0	0	0	0	0	0	1	16604	1103	39	4		4	TSC22D1	13	45149845	Silent	SNP	G	TCGA-BJ-A191-01A-11D-A13W-08		45149845	70020033	13	500											
ABHD4	63874	broad.mit.edu	37	chr14	23075421	23075421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagagtatatttaccactGcaacgcacagaatcccaggt	7	11	1	2			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr14:23075421G>A	ENST00000428304.2	+	5	804	c.734G>A	c.(733-735)tGc>tAc	p.C245Y	ABHD4_ENST00000544562.1_3'UTR	NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	245					lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		ATTTACCACTGCAACGCACAG	0.522																																						ENST00000428304.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14						c.(733-735)tGc>tAc		abhydrolase domain containing 4							45	43	44					14																	23075421		2203	4300	6503	SO:0001583	missense	63874				lipid catabolic process		hydrolase activity	g.chr14:23075421G>A	AK022878	CCDS9572.1	14q11.1	2006-10-06			ENSG00000100439	ENSG00000100439		"Abhydrolase domain containing"	20154	protein-coding gene	gene with protein product							Standard	NM_022060		Approved	FLJ12816	uc001wgm.3	Q8TB40	OTTHUMG00000028686	ENST00000428304.2:c.734G>A	14.37:g.23075421G>A	ENSP00000414558:p.Cys245Tyr					ABHD4_ENST00000544562.1_3'UTR	p.C245Y	NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN		GBM - Glioblastoma multiforme(265;0.0153)	5	804	+	all_cancers(95;5.49e-05)		245					B4DDH7|Q9H9E0	Missense_Mutation	SNP	ENST00000428304.2	37	c.734G>A	CCDS9572.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968175	0.74131	.	.	ENSG00000100439	ENST00000428304;ENST00000216327	D;D	0.83992	-1.79;-1.79	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.91576	0.7339	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.91996	0.5607	10	0.54805	T	0.06	-18.5192	16.7765	0.85552	0.0:0.0:1.0:0.0	.	245	Q8TB40	ABHD4_HUMAN	Y	245;179	ENSP00000414558:C245Y;ENSP00000216327:C179Y	ENSP00000216327:C179Y	C	+	2	0	ABHD4	22145261	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.284000	0.72652	2.551000	0.86045	0.650000	0.86243	TGC		0.522	ABHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071623.3			13	10	0	0	0	0.00010058	0	13	10					A	23075421	G	A	23075421	3	1	17	1	0	0	0	0	1	0	0	0	84	1319	46	2	752	2	ABHD4	14	23075421	Missense_Mutation	SNP	G	TCGA-BJ-A191-01A-11D-A13W-08		23075421	84274119	14	501											
DAAM1	23002	broad.mit.edu	37	chr14	59789679	59789679	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctaaagaccatggactaCgagacctcagagtctcgaat	8	10	3	3			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr14:59789679C>T	ENST00000395125.1	+	5	533	c.510C>T	c.(508-510)taC>taT	p.Y170Y	DAAM1_ENST00000360909.3_Silent_p.Y170Y|DAAM1_ENST00000351081.1_Silent_p.Y170Y	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	170	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CCATGGACTACGAGACCTCAG	0.448																																						ENST00000395125.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(508-510)taC>taT		dishevelled associated activator of morphogenesis 1							139	134	135					14																	59789679		2203	4300	6503	SO:0001819	synonymous_variant	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59789679C>T	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.510C>T	14.37:g.59789679C>T						DAAM1_ENST00000351081.1_Silent_p.Y170Y|DAAM1_ENST00000360909.3_Silent_p.Y170Y	p.Y170Y	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	5	533	+			170			GBD/FH3.		Q86U34|Q8N1Z8|Q8TB39	Silent	SNP	ENST00000395125.1	37	c.510C>T	CCDS9737.1																																																																																				0.448	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		58	67	0	0	0	0.000147903	0	58	67					T	59789679	C	T	59789679	2	4	17	1	0	0	0	0	0	0	0	1	4215	547	19	1		1	DAAM1	14	59789679	Silent	SNP	C	TCGA-BJ-A191-01A-11D-A13W-08	36714258	59789679	47559861	15	502											
STON2	85439	broad.mit.edu	37	chr14	81744032	81744032	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cggtcctgaactgcatggatGaaactcaggaagtcatcgta	11	9	2	2			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr14:81744032G>A	ENST00000267540.2	-	4	1823	c.1623C>T	c.(1621-1623)ttC>ttT	p.F541F	STON2_ENST00000556280.1_5'Flank|STON2_ENST00000555447.1_Silent_p.F541F	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	541	SHD. {ECO:0000255|PROSITE- ProRule:PRU00403}.				hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		CTGCATGGATGAAACTCAGGA	0.498																																						ENST00000555447.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34						c.(1621-1623)ttC>ttT		stonin 2							98	98	98					14																	81744032		2203	4300	6503	SO:0001819	synonymous_variant	85439				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	g.chr14:81744032G>A	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"stoned B homolog 2 (Drosophila)"	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.1623C>T	14.37:g.81744032G>A						STON2_ENST00000267540.2_Silent_p.F541F	p.F541F	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	6	2035	-			541			SHD.		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Silent	SNP	ENST00000267540.2	37	c.1623C>T	CCDS9875.1																																																																																				0.498	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		50	66	0	0	0	0.000147903	0	50	66					A	81744032	G	A	81744032	2	1	17	1	0	0	0	0	0	0	0	1	15317	1281	45	2		2	STON2	14	81744032	Silent	SNP	G	TCGA-BJ-A191-01A-11D-A13W-08	21954353	81744032	25605508	16	503											
BTBD7	55727	broad.mit.edu	37	chr14	93723588	93723588	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggtaagatgtgttcaattcGcacaaaaggtaagagagaag	12	4	1	3			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr14:93723588G>C	ENST00000334746.5	-	6	1868	c.1561C>G	c.(1561-1563)Cga>Gga	p.R521G	BTBD7_ENST00000393170.2_Missense_Mutation_p.R95G|BTBD7_ENST00000554565.1_Missense_Mutation_p.R170G	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	521					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TGTTCAATTCGCACAAAAGGT	0.408																																						ENST00000334746.5																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(1561-1563)Cga>Gga		BTB (POZ) domain containing 7							166	156	159					14																	93723588		2203	4300	6503	SO:0001583	missense	55727							g.chr14:93723588G>C	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"BTB/POZ domain containing"	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.1561C>G	14.37:g.93723588G>C	ENSP00000335615:p.Arg521Gly					BTBD7_ENST00000554565.1_Missense_Mutation_p.R170G|BTBD7_ENST00000393170.2_Missense_Mutation_p.R95G	p.R521G	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	6	1868	-		all_cancers(154;0.08)	521					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	ENST00000334746.5	37	c.1561C>G	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.954828	0.73902	.	.	ENSG00000011114	ENST00000334746;ENST00000554565;ENST00000553975;ENST00000393170	T;T	0.76839	-0.78;-1.05	5.64	3.76	0.43208	BTB/Kelch-associated (1);	0.000000	0.85682	D	0.000000	D	0.88001	0.6320	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.995	D	0.89316	0.3636	10	0.87932	D	0	.	15.1131	0.72375	0.0:0.0:0.7415:0.2585	.	95;170;521	E7ERI4;Q9P203-5;Q9P203	.;.;BTBD7_HUMAN	G	521;170;136;95	ENSP00000335615:R521G;ENSP00000451010:R170G	ENSP00000335615:R521G	R	-	1	2	BTBD7	92793341	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.893000	0.56243	0.800000	0.34041	0.650000	0.86243	CGA		0.408	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		55	75	0	0	0	0.000147903	0	55	75					C	93723588	G	C	93723588	3	2	17	1	0	0	0	0	1	0	0	0	1546	1095	38	4	1861	4	BTBD7	14	93723588	Missense_Mutation	SNP	G	TCGA-BJ-A191-01A-11D-A13W-08	11979556	93723588	13625952	17	504											
TECPR2	9895	broad.mit.edu	37	chr14	102873742	102873742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacctggtggcagcaggcaCagcctctggcagggttgcag	16	11	1	1			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr14:102873742C>T	ENST00000359520.7	+	3	513	c.287C>T	c.(286-288)aCa>aTa	p.T96I	TECPR2_ENST00000561228.1_3'UTR|TECPR2_ENST00000558678.1_Missense_Mutation_p.T96I	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	96					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GCAGCAGGCACAGCCTCTGGC	0.463																																						ENST00000359520.7																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						c.(286-288)aCa>aTa		tectonin beta-propeller repeat containing 2							93	82	86					14																	102873742		2203	4300	6503	SO:0001583	missense	9895						protein binding	g.chr14:102873742C>T	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"KIAA0329"	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.287C>T	14.37:g.102873742C>T	ENSP00000352510:p.Thr96Ile					TECPR2_ENST00000558678.1_Missense_Mutation_p.T96I|TECPR2_ENST00000561228.1_3'UTR	p.T96I	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN			3	513	+			96					A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	c.287C>T	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	C	33	5.277190	0.95459	.	.	ENSG00000196663	ENST00000359520;ENST00000380088	T	0.01406	4.93	6.16	6.16	0.99307	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.08403	0.0209	L	0.56769	1.78	0.52099	D	0.999941	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.83275	0.991;0.992;0.996	T	0.00630	-1.1636	10	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	96;96;96	B4DK51;A5PKY3;O15040	.;.;TCPR2_HUMAN	I	96	ENSP00000352510:T96I	ENSP00000352510:T96I	T	+	2	0	TECPR2	101943495	1.000000	0.71417	0.993000	0.49108	0.936000	0.57629	7.463000	0.80869	2.937000	0.99478	0.650000	0.86243	ACA		0.463	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		54	36	0	0	0	0.000147903	0	54	36					T	102873742	C	T	102873742	3	4	17	1	0	0	0	0	1	0	0	0	15741	478	17	2	293	2	TECPR2	14	102873742	Missense_Mutation	SNP	C	TCGA-BJ-A191-01A-11D-A13W-08	9150154	102873742	4475798	18	505											
NUP93	9688	broad.mit.edu	37	chr16	56782202	56782202	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctccttcagcaagctgaaCagcttgctgctgagactgag	11	11	1	3			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr16:56782202C>T	ENST00000308159.5	+	2	164	c.43C>T	c.(43-45)Cag>Tag	p.Q15*	NUP93_ENST00000569842.1_Nonsense_Mutation_p.Q15*	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	15					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.Q15*(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GCAAGCTGAACAGCTTGCTGC	0.517																																					Colon(33;610 796 1305 1705 38917)	ENST00000569842.1																			1	Substitution - Nonsense(1)	p.Q15*(1)	endometrium(1)	breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(43-45)Cag>Tag		nucleoporin 93kDa							67	65	66					16																	56782202		2198	4300	6498	SO:0001587	stop_gained	9688				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr16:56782202C>T	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.43C>T	16.37:g.56782202C>T	ENSP00000310668:p.Gln15*					NUP93_ENST00000308159.5_Nonsense_Mutation_p.Q15*	p.Q15*			Q8N1F7	NUP93_HUMAN			2	139	+			15					B3KPQ8|Q14705	Nonsense_Mutation	SNP	ENST00000308159.5	37	c.43C>T	CCDS10769.1	.	.	.	.	.	.	.	.	.	.	C	40	8.003070	0.98605	.	.	ENSG00000102900	ENST00000308159	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.0968	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	15	.	ENSP00000310668:Q15X	Q	+	1	0	NUP93	55339703	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.681000	0.84073	2.937000	0.99478	0.650000	0.86243	CAG		0.517	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669		31	74	0	0	0	0.000339439	0	31	74					T	56782202	C	T	56782202	4	4	17	1	0	0	0	0	0	1	0	0	10772	479	17	2	45	2	NUP93	16	56782202	Nonsense_Mutation	SNP	C	TCGA-BJ-A191-01A-11D-A13W-08		56782202	33572551	19	506											
NCOR1	9611	broad.mit.edu	37	chr17	15983374	15983374	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcttgtatggctcctgcGgtacctgaatacaaacaaag	8	11	1	1			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr17:15983374G>A	ENST00000268712.3	-	26	3662	c.3405C>T	c.(3403-3405)acC>acT	p.T1135T	NCOR1_ENST00000395851.1_Silent_p.T1151T|NCOR1_ENST00000395857.3_5'Flank	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1135	Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGGCTCCTGCGGTACCTGAAT	0.463																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(3403-3405)acC>acT		nuclear receptor corepressor 1							119	104	109					17																	15983374		2203	4300	6503	SO:0001819	synonymous_variant	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15983374G>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.3405C>T	17.37:g.15983374G>A						NCOR1_ENST00000395851.1_Silent_p.T1151T	p.T1135T	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	26	3662	-			1135			Interaction with ETO.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	ENST00000268712.3	37	c.3405C>T	CCDS11175.1																																																																																				0.463	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		28	29	0	0	0	0.000227799	0	28	29					A	15983374	G	A	15983374	2	1	17	1	0	0	0	0	0	0	0	1	10235	1103	39	1		1	NCOR1	17	15983374	Silent	SNP	G	TCGA-BJ-A191-01A-11D-A13W-08		15983374	65211836	20	507											
CCL13	6357	broad.mit.edu	37	chr17	32683581	32683581	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtgcttctgtgcctgctgctCatgacagcagctttcaaccc	9	14	3	1			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr17:32683581C>G	ENST00000225844.2	+	1	111	c.36C>G	c.(34-36)ctC>ctG	p.L12L		NM_005408.2	NP_005399.1	Q99616	CCL13_HUMAN	chemokine (C-C motif) ligand 13	12					cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|immune response (GO:0006955)|inflammatory response (GO:0006954)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			large_intestine(1)|prostate(1)	2		Ovarian(249;0.0443)|Breast(31;0.151)				GCCTGCTGCTCATGACAGCAG	0.502																																						ENST00000225844.2																			0				large_intestine(1)|prostate(1)	2						c.(34-36)ctC>ctG		chemokine (C-C motif) ligand 13							185	174	178					17																	32683581		2203	4300	6503	SO:0001819	synonymous_variant	6357				cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity|signal transducer activity	g.chr17:32683581C>G	AJ001634	CCDS11281.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000181374	ENSG00000181374		"Chemokine ligands", "Endogenous ligands"	10611	protein-coding gene	gene with protein product		601391	"small inducible cytokine subfamily A (Cys-Cys), member 13"	SCYA13		8661057	Standard	NM_005408		Approved	MCP-4, NCC-1, SCYL1, CKb10, MGC17134	uc002hic.3	Q99616	OTTHUMG00000132890	ENST00000225844.2:c.36C>G	17.37:g.32683581C>G							p.L12L	NM_005408.2	NP_005399.1	Q99616	CCL13_HUMAN			1	111	+		Ovarian(249;0.0443)|Breast(31;0.151)	12					O95689|Q6ICQ6	Silent	SNP	ENST00000225844.2	37	c.36C>G	CCDS11281.1																																																																																				0.502	CCL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256389.1	NM_005408		22	26	0	0	0	0.000586117	0	22	26					G	32683581	C	G	32683581	2	3	17	1	0	0	0	0	0	0	0	1	2884	813	29	4		4	CCL13	17	32683581	Silent	SNP	C	TCGA-BJ-A191-01A-11D-A13W-08	16700207	32683581	48511629	21	508											
NPEPPS	9520	broad.mit.edu	37	chr17	45608849	45608849	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cctgccgatgtctcccccatCaactacagcctttgcctcaa	5	18	3	0			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr17:45608849C>G	ENST00000322157.4	+	1	420	c.183C>G	c.(181-183)atC>atG	p.I61M	NPEPPS_ENST00000530173.1_Missense_Mutation_p.I57M|NPEPPS_ENST00000525037.1_Intron|NPEPPS_ENST00000544660.1_Missense_Mutation_p.I17M	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	61					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						TCTCCCCCATCAACTACAGCC	0.687																																						ENST00000322157.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						c.(181-183)atC>atG		aminopeptidase puromycin sensitive																																				SO:0001583	missense	9520				proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr17:45608849C>G	Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"puromycin-sensitive aminopeptidase", "metalloproteinase MP100"	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.183C>G	17.37:g.45608849C>G	ENSP00000320324:p.Ile61Met					NPEPPS_ENST00000544660.1_Missense_Mutation_p.I17M|NPEPPS_ENST00000530173.1_Missense_Mutation_p.I57M|NPEPPS_ENST00000525037.1_Intron	p.I61M	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN			1	420	+			61					B7Z463|Q6P145|Q9NP16|Q9UEM2	Missense_Mutation	SNP	ENST00000322157.4	37	c.183C>G	CCDS45721.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.835877	0.32421	.	.	ENSG00000141279	ENST00000525007;ENST00000530173;ENST00000322157;ENST00000539572;ENST00000544660	T;T;T;T	0.04454	4.12;4.12;4.12;3.62	2.69	1.7	0.24286	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.082576	0.50627	U	0.000117	T	0.09113	0.0225	L	0.49640	1.575	0.33057	D	0.53358	B;B;B	0.34313	0.448;0.259;0.411	B;B;P	0.47102	0.332;0.264;0.537	T	0.07597	-1.0764	10	0.48119	T	0.1	.	8.2424	0.31669	0.0:0.871:0.0:0.129	.	61;57;61	A6NEC2;E9PLK3;P55786	PSAL_HUMAN;.;PSA_HUMAN	M	48;57;61;48;17	ENSP00000437019:I48M;ENSP00000433287:I57M;ENSP00000320324:I61M;ENSP00000442461:I17M	ENSP00000320324:I61M	I	+	3	3	NPEPPS	42963848	1.000000	0.71417	0.996000	0.52242	0.306000	0.27790	4.188000	0.58351	0.330000	0.23485	-0.361000	0.07541	ATC		0.687	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384269.1	NM_006310		7	8	0	0	0	0.000157383	0	7	8					G	45608849	C	G	45608849	3	3	17	1	0	0	0	0	1	0	0	0	10575	816	29	4	185	4	NPEPPS	17	45608849	Missense_Mutation	SNP	C	TCGA-BJ-A191-01A-11D-A13W-08	12925268	45608849	35586361	22	509											
GPR142	350383	broad.mit.edu	37	chr17	72368512	72368512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtacgtggcccctgtccacCgggactggagggtccacctg	14	14	0	0	rs143741049	byFrequency	TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr17:72368512C>T	ENST00000335666.4	+	4	1210	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	388						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CCCTGTCCACCGGGACTGGAG	0.607													C|||	9	0.00179712	0.0068	0	5008	,	,		20030	0		0	False		,,,				2504	0					ENST00000335666.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						c.(1162-1164)Cgg>Tgg		G protein-coupled receptor 142		C	TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	111	94	100		1162	3.5	1.0	17	dbSNP_134	100	0,8600		0,0,4300	no	missense	GPR142	NM_181790.1	101	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging	388/463	72368512	3,13003	2203	4300	6503	SO:0001583	missense	350383					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	g.chr17:72368512C>T	AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"GPCR / Class A : Orphans"	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.1162C>T	17.37:g.72368512C>T	ENSP00000335158:p.Arg388Trp						p.R388W	NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN			4	1210	+			388					A4CYJ8|Q86SL3	Missense_Mutation	SNP	ENST00000335666.4	37	c.1162C>T	CCDS11698.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	17.75	3.465487	0.63513	6.81E-4	0.0	ENSG00000257008	ENST00000335666	T	0.72167	-0.63	4.62	3.55	0.40652	GPCR, rhodopsin-like superfamily (1);	0.603639	0.16754	N	0.200929	T	0.76456	0.3990	L	0.40543	1.245	0.33144	D	0.544772	D;D	0.89917	1.0;1.0	D;D	0.73380	0.965;0.98	T	0.80491	-0.1359	10	0.72032	D	0.01	-15.914	12.1326	0.53952	0.283:0.717:0.0:0.0	.	388;1350	Q7Z601;Q8NGB0	GP142_HUMAN;.	W	388	ENSP00000335158:R388W	ENSP00000335158:R388W	R	+	1	2	GPR142	69880107	0.414000	0.25408	1.000000	0.80357	0.998000	0.95712	1.302000	0.33459	2.524000	0.85096	0.556000	0.70494	CGG		0.607	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1	NM_181790		5	175	0	0	0	1.23904e-05	0	5	175					T	72368512	C	T	72368512	3	4	17	1	0	0	0	0	1	0	0	0	6650	643	23	1	1176	1	GPR142	17	72368512	Missense_Mutation	SNP	C	TCGA-BJ-A191-01A-11D-A13W-08	26759663	72368512	8826698	23	510											
ALPK2	115701	broad.mit.edu	37	chr18	56204584	56204584	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ggattgttctcagaagaaagGagctgtgtttcatcaagccc	11	8	3	2			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr18:56204584G>C	ENST00000361673.3	-	5	3048	c.2835C>G	c.(2833-2835)ctC>ctG	p.L945L	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	945						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CAGAAGAAAGGAGCTGTGTTT	0.532																																						ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(2833-2835)ctC>ctG		alpha-kinase 2							57	58	57					18																	56204584		2203	4300	6503	SO:0001819	synonymous_variant	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56204584G>C	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.2835C>G	18.37:g.56204584G>C						RP11-1151B14.4_ENST00000591360.1_RNA	p.L945L	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			5	3048	-			945					Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	ENST00000361673.3	37	c.2835C>G	CCDS11966.2																																																																																				0.532	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		15	11	0	0	0	0.000219431	0	15	11					C	56204584	G	C	56204584	2	2	17	1	0	0	0	0	0	0	0	1	545	1161	41	4		4	ALPK2	18	56204584	Silent	SNP	G	TCGA-BJ-A191-01A-11D-A13W-08		56204584	21872664	24	511											
CELF5	60680	broad.mit.edu	37	chr19	3282183	3282183	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agctacctgagtcccggcgtGgccttctcaccctgtcacat	9	16	2	1			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr19:3282183G>C	ENST00000292672.2	+	7	847	c.810G>C	c.(808-810)gtG>gtC	p.V270V	CELF5_ENST00000541430.2_Silent_p.V270V	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	270					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						GTCCCGGCGTGGCCTTCTCAC	0.622																																						ENST00000541430.2																			0				kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						c.(808-810)gtG>gtC		CUGBP, Elav-like family member 5							129	108	115					19																	3282183		2203	4300	6503	SO:0001819	synonymous_variant	60680				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:3282183G>C	AF248649	CCDS12106.1, CCDS54197.1	19p13	2013-02-12	2010-02-19	2010-02-19		ENSG00000161082		"RNA binding motif (RRM) containing"	14058	protein-coding gene	gene with protein product		612680	"Bruno (Drosophila) -like 5, RNA binding protein", "bruno-like 5, RNA binding protein (Drosophila)"	BRUNOL5		10893231	Standard	NM_001172673		Approved		uc002lxm.3	Q8N6W0		ENST00000292672.2:c.810G>C	19.37:g.3282183G>C						CELF5_ENST00000292672.2_Silent_p.V270V	p.V270V	NM_001172673.1	NP_001166144.1	Q8N6W0	CELF5_HUMAN			7	846	+			270					D6W614|O75253|Q59GP2|Q86VW6|Q9BZC0|Q9NR86	Silent	SNP	ENST00000292672.2	37	c.810G>C	CCDS12106.1																																																																																				0.622	CELF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452574.1	NM_021938		64	118	0	0	0	0.000147903	0	64	118					C	3282183	G	C	3282183	2	2	17	1	0	0	0	0	0	0	0	1	3219	1335	47	4		4	CELF5	19	3282183	Silent	SNP	G	TCGA-BJ-A191-01A-11D-A13W-08		3282183	55846800	25	512											
FCGRT	2217	broad.mit.edu	37	chr19	50017181	50017181	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccaccttaccgcggtgtcctCgcctgccccggggactcctg	11	19	0	0			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr19:50017181C>A	ENST00000221466.5	+	3	602	c.116C>A	c.(115-117)tCg>tAg	p.S39*	FCGRT_ENST00000594823.1_3'UTR|FCGRT_ENST00000599988.1_Intron|FCGRT_ENST00000596975.1_Nonsense_Mutation_p.S39*|FCGRT_ENST00000426395.3_Nonsense_Mutation_p.S39*	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	39	Alpha-1.				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)		GCGGTGTCCTCGCCTGCCCCG	0.657																																						ENST00000221466.5																			0				endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9						c.(115-117)tCg>tAg		Fc fragment of IgG, receptor, transporter, alpha							126	125	125					19																	50017181		2203	4300	6503	SO:0001587	stop_gained	2217				antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity	g.chr19:50017181C>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.116C>A	19.37:g.50017181C>A	ENSP00000221466:p.Ser39*					FCGRT_ENST00000596975.1_Nonsense_Mutation_p.S39*|FCGRT_ENST00000599988.1_Intron|FCGRT_ENST00000426395.3_Nonsense_Mutation_p.S39*|FCGRT_ENST00000594823.1_3'UTR	p.S39*	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)	3	602	+		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	39			Alpha-1.		Q5HYM5|Q9HBV7|Q9NZ19	Nonsense_Mutation	SNP	ENST00000221466.5	37	c.116C>A	CCDS12770.1	.	.	.	.	.	.	.	.	.	.	C	37	6.375891	0.97515	.	.	ENSG00000104870	ENST00000221466;ENST00000426395;ENST00000415900;ENST00000452439	.	.	.	4.6	-2.7	0.06004	.	3.212320	0.01032	N	0.004150	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	4.9996	0.14257	0.5356:0.2817:0.0:0.1827	.	.	.	.	X	39	.	ENSP00000221466:S39X	S	+	2	0	FCGRT	54708993	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.562000	0.05950	-0.238000	0.09724	-1.153000	0.01818	TCG		0.657	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465267.1			6	231	1	0	3.59834e-05	3.59834e-05	0.00290811	6	231					A	50017181	C	A	50017181	4	1	17	1	0	0	0	0	0	1	0	0	5786	893	31	4	122	4	FCGRT	19	50017181	Nonsense_Mutation	SNP	C	TCGA-BJ-A191-01A-11D-A13W-08	46734998	50017181	9111802	26	513											
NPBWR2	2832	broad.mit.edu	37	chr20	62737969	62737969	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accgtcttcatcttgggcgcCcttaggattacaaggatgac	10	11	3	1			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr20:62737969C>A	ENST00000369768.1	-	1	555	c.216G>T	c.(214-216)agG>agT	p.R72S		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	72					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					TCTTGGGCGCCCTTAGGATTA	0.617																																						ENST00000369768.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(214-216)agG>agT		neuropeptides B/W receptor 2							71	59	63					20																	62737969		2201	4300	6501	SO:0001583	missense	2832					plasma membrane	opioid receptor activity|protein binding	g.chr20:62737969C>A	U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"GPCR / Class A : Neuropeptide receptors : W/B"	4530	protein-coding gene	gene with protein product		600731	"G protein-coupled receptor 8"	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.216G>T	20.37:g.62737969C>A	ENSP00000358783:p.Arg72Ser						p.R72S	NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN			1	555	-	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)		72					Q6NWQ6|Q9H4K3	Missense_Mutation	SNP	ENST00000369768.1	37	c.216G>T	CCDS13557.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.687479	0.48097	.	.	ENSG00000125522	ENST00000369768	T	0.39997	1.05	3.74	-0.626	0.11544	GPCR, rhodopsin-like superfamily (1);	0.063428	0.64402	U	0.000015	T	0.43366	0.1244	M	0.62209	1.925	0.28443	N	0.916724	P	0.48834	0.916	P	0.49085	0.6	T	0.44967	-0.9293	10	0.87932	D	0	.	8.7092	0.34374	0.0:0.5513:0.0:0.4486	.	72	P48146	NPBW2_HUMAN	S	72	ENSP00000358783:R72S	ENSP00000358783:R72S	R	-	3	2	NPBWR2	62208413	0.626000	0.27120	0.217000	0.23759	0.510000	0.34073	-0.198000	0.09505	0.100000	0.17581	0.484000	0.47621	AGG		0.617	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080300.1	NM_005286		33	25	1	0	4.31634e-10	0.000409698	3.6545e-08	33	25					A	62737969	C	A	62737969	3	1	17	1	0	0	0	0	1	0	0	0	10569	622	22	4	788	4	NPBWR2	20	62737969	Missense_Mutation	SNP	C	TCGA-BJ-A191-01A-11D-A13W-08		62737969	287551	27	514											
RANGAP1	5905	broad.mit.edu	37	chr22	41650321	41650321	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagaaactcaccccagtgttAgggtccagaatcttccgtga	9	11	2	3			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr22:41650321A>G	ENST00000455915.2	-	10	2720	c.1251T>C	c.(1249-1251)ccT>ccC	p.P417P	RANGAP1_ENST00000356244.3_Silent_p.P417P|RANGAP1_ENST00000407260.4_Silent_p.P362P|RANGAP1_ENST00000405486.1_Silent_p.P417P			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	417					mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCCCAGTGTTAGGGTCCAGAA	0.562																																						ENST00000455915.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1249-1251)ccT>ccC		Ran GTPase activating protein 1							295	211	240					22																	41650321		2203	4300	6503	SO:0001819	synonymous_variant	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41650321A>G	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"segregation distorter homolog (Drosophila)"	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1251T>C	22.37:g.41650321A>G						RANGAP1_ENST00000407260.4_Silent_p.P362P|RANGAP1_ENST00000405486.1_Silent_p.P417P|RANGAP1_ENST00000356244.3_Silent_p.P417P	p.P417P			P46060	RAGP1_HUMAN			10	2720	-			417					Q96JJ2	Silent	SNP	ENST00000455915.2	37	c.1251T>C	CCDS14012.1																																																																																				0.562	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	NM_002883		4	143	0	0	0	0.00024832	0	4	143					G	41650321	A	G	41650321	2	3	17	1	0	0	0	0	0	0	0	1	13033	407	15	3		3	RANGAP1	22	41650321	Silent	SNP	A	TCGA-BJ-A191-01A-11D-A13W-08		41650321	9654245	28	515											
IL17REL	400935	broad.mit.edu	37	chr22	50436654	50436654	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaggctcacatggccactcAcagggcaggcgggctcccag	13	15	2	0			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr22:50436654A>G	ENST00000389983.2	-	10	950	c.686T>C	c.(685-687)gTg>gCg	p.V229A	IL17REL_ENST00000341280.5_Missense_Mutation_p.V229A	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	229										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		ATGGCCACTCACAGGGCAGGC	0.677																																						ENST00000389983.2																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6						c.(685-687)gTg>gCg		interleukin 17 receptor E-like							42	48	46					22																	50436654		2203	4300	6503	SO:0001583	missense	400935							g.chr22:50436654A>G	AK123987	CCDS33679.1	22q13.33	2009-01-13			ENSG00000188263	ENSG00000188263			33808	protein-coding gene	gene with protein product		613414					Standard	NM_001001694		Approved	FLJ41993	uc003bje.1	Q6ZVW7	OTTHUMG00000150242	ENST00000389983.2:c.686T>C	22.37:g.50436654A>G	ENSP00000374633:p.Val229Ala					IL17REL_ENST00000341280.5_Missense_Mutation_p.V229A	p.V229A	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	10	950	-		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)	229					A6NCN4|A6PVC1	Missense_Mutation	SNP	ENST00000389983.2	37	c.686T>C	CCDS33679.1	.	.	.	.	.	.	.	.	.	.	A	15.32	2.798149	0.50208	.	.	ENSG00000188263	ENST00000389983;ENST00000341280	T;T	0.16457	2.34;2.34	3.05	3.05	0.35203	.	0.098435	0.40144	U	0.001165	T	0.25568	0.0622	L	0.52573	1.65	0.23906	N	0.996508	D	0.59357	0.985	P	0.56823	0.807	T	0.02574	-1.1139	10	0.72032	D	0.01	.	7.5203	0.27624	1.0:0.0:0.0:0.0	.	229	Q6ZVW7	I17EL_HUMAN	A	229	ENSP00000374633:V229A;ENSP00000342520:V229A	ENSP00000342520:V229A	V	-	2	0	IL17REL	48778781	0.140000	0.22579	0.908000	0.35775	0.351000	0.29236	1.572000	0.36461	1.265000	0.44215	0.459000	0.35465	GTG		0.677	IL17REL-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317011.1	NM_001001694		3	78	0	0	0	0.00024832	0	3	78					G	50436654	A	G	50436654	3	3	17	1	0	0	0	0	1	0	0	0	7644	159	6	3	344	3	IL17REL	22	50436654	Missense_Mutation	SNP	A	TCGA-BJ-A191-01A-11D-A13W-08	8786333	50436654	867912	29	516											
GNAT1	2779	broad.mit.edu	37	chr3	50230803	50230803	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatcgtacgcgccatgacCacactcaacatccagtacgg	8	16	1	1			TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chr3:50230803C>T	ENST00000433068.1	+	3	311	c.255C>T	c.(253-255)acC>acT	p.T85T	GNAT1_ENST00000232461.3_Silent_p.T85T	NM_000172.3	NP_000163.2	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	85					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular response to electrical stimulus (GO:0071257)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|phototransduction, visible light (GO:0007603)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to light intensity (GO:0009642)|response to light stimulus (GO:0009416)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	acyl binding (GO:0000035)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCGCCATGACCACACTCAACA	0.637																																						ENST00000232461.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(253-255)acC>acT		guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1							84	71	76					3																	50230803		2203	4300	6503	SO:0001819	synonymous_variant	2779				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity	g.chr3:50230803C>T		CCDS2812.1	3p21	2014-01-28			ENSG00000114349	ENSG00000114349			4393	protein-coding gene	gene with protein product		139330					Standard	NM_000172		Approved	CSNBAD3	uc003cyl.2	P11488	OTTHUMG00000156808	ENST00000433068.1:c.255C>T	3.37:g.50230803C>T						GNAT1_ENST00000433068.1_Silent_p.T85T	p.T85T	NM_144499.2	NP_653082.1	P11488	GNAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	3	369	+			85					Q4VBN2	Silent	SNP	ENST00000433068.1	37	c.255C>T	CCDS2812.1																																																																																				0.637	GNAT1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345957.1	NM_000172		8	31	0	0	0	0.008291	0	8	31					T	50230803	C	T	50230803	2	4	18	1	0	0	0	0	0	0	0	1	6511	581	21	2		2	GNAT1	3	50230803	Silent	SNP	C	TCGA-BJ-A192-01A-31D-A13W-08		50230803	147791627	1	517											
CDH12	1010	broad.mit.edu	37	chr5	21842341	21842341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctattgttgttccggctaatCctccaagctgtcctcccata	6	14	0	0			TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chr5:21842341C>T	ENST00000382254.1	-	8	1829	c.743G>A	c.(742-744)gGa>gAa	p.G248E	CDH12_ENST00000522262.1_Missense_Mutation_p.G208E|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.G248E	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	248	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|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(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCCGGCTAATCCTCCAAGCTG	0.423										HNSCC(59;0.17)																												ENST00000382254.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(742-744)gGa>gAa		cadherin 12, type 2 (N-cadherin 2)							347	262	291					5																	21842341		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21842341C>T	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.743G>A	5.37:g.21842341C>T	ENSP00000371689:p.Gly248Glu	HNSCC(59;0.17)				CDH12_ENST00000522262.1_Missense_Mutation_p.G208E|CDH12_ENST00000504376.2_Missense_Mutation_p.G248E|CDH12_ENST00000521384.1_5'UTR	p.G248E	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN			8	1829	-			248			Cadherin 2.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.743G>A	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	31	5.097091	0.94197	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.60040	0.63;0.63;0.22	5.34	5.34	0.76211	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.77350	0.4117	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.994;1.0	T	0.79948	-0.1588	10	0.87932	D	0	.	19.0468	0.93022	0.0:1.0:0.0:0.0	.	208;248	B7Z2U6;P55289	.;CAD12_HUMAN	E	248;248;208	ENSP00000423577:G248E;ENSP00000371689:G248E;ENSP00000428786:G208E	ENSP00000371689:G248E	G	-	2	0	CDH12	21878098	1.000000	0.71417	0.980000	0.43619	0.970000	0.65996	7.666000	0.83877	2.480000	0.83734	0.655000	0.94253	GGA		0.423	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		9	163	0	0	0	0.006214	0	9	163					T	21842341	C	T	21842341	3	4	18	1	0	0	0	0	1	0	0	0	3098	855	30	2	1673	2	CDH12	5	21842341	Missense_Mutation	SNP	C	TCGA-BJ-A192-01A-31D-A13W-08		21842341	159072919	2	518											
FKBP5	2289	broad.mit.edu	37	chr6	35558975	35558975	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaatgccaaatttaggctTccctgcctctccaaaaccat	4	14	2	0			TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chr6:35558975T>C	ENST00000539068.1	-	7	890	c.688A>G	c.(688-690)Aag>Gag	p.K230E	FKBP5_ENST00000540787.1_Missense_Mutation_p.K51E|FKBP5_ENST00000357266.4_Missense_Mutation_p.K230E|FKBP5_ENST00000542713.1_Intron|FKBP5_ENST00000536438.1_Missense_Mutation_p.K230E	NM_001145776.1	NP_001139248.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	230	PPIase FKBP-type 2. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						AATTTAGGCTTCCCTGCCTCT	0.358																																						ENST00000536438.1																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						c.(688-690)Aag>Gag		FK506 binding protein 5							102	103	103					6																	35558975		2203	4300	6503	SO:0001583	missense	2289				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity	g.chr6:35558975T>C	U42031	CCDS4808.1, CCDS54996.1	6p21.31	2013-01-10	2001-11-28		ENSG00000096060	ENSG00000096060		"Tetratricopeptide (TTC) repeat domain containing"	3721	protein-coding gene	gene with protein product		602623	"FK506-binding protein 5"			9001212	Standard	NM_004117		Approved	FKBP51, FKBP54, PPIase, P54, Ptg-10	uc003okx.2	Q13451	OTTHUMG00000014576	ENST00000539068.1:c.688A>G	6.37:g.35558975T>C	ENSP00000441205:p.Lys230Glu					FKBP5_ENST00000539068.1_Missense_Mutation_p.K230E|FKBP5_ENST00000357266.4_Missense_Mutation_p.K230E|FKBP5_ENST00000540787.1_Missense_Mutation_p.K51E|FKBP5_ENST00000542713.1_Intron	p.K230E	NM_001145775.1	NP_001139247.1	Q13451	FKBP5_HUMAN			8	1003	-			230			PPIase FKBP-type 2.		F5H7R1|Q59EB8|Q5TGM6	Missense_Mutation	SNP	ENST00000539068.1	37	c.688A>G	CCDS4808.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.918785	0.92249	.	.	ENSG00000096060	ENST00000536438;ENST00000357266;ENST00000539068;ENST00000337746;ENST00000540787;ENST00000543400	D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94	5.68	5.68	0.88126	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.000000	0.85682	D	0.000000	D	0.87672	0.6236	L	0.52823	1.66	0.80722	D	1	D	0.71674	0.998	D	0.66497	0.944	D	0.88674	0.3197	10	0.56958	D	0.05	-10.5348	14.7931	0.69857	0.0:0.0:0.0:1.0	.	230	Q13451	FKBP5_HUMAN	E	230;230;230;230;51;193	ENSP00000444810:K230E;ENSP00000349811:K230E;ENSP00000441205:K230E;ENSP00000445412:K51E	ENSP00000338160:K230E	K	-	1	0	FKBP5	35666953	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.860000	0.75473	2.289000	0.77006	0.460000	0.39030	AAG		0.358	FKBP5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040309.2			8	89	0	0	0	0.00278	0	8	89					C	35558975	T	C	35558975	3	2	18	1	0	0	0	0	1	0	0	0	5911	1792	62	3	763	3	FKBP5	6	35558975	Missense_Mutation	SNP	T	TCGA-BJ-A192-01A-31D-A13W-08		35558975	135556092	3	519											
ABP1	26	broad.mit.edu	37	chr7	150554081	150554081	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataccacaggcttctcattcCaagactgccatgacagatgc	7	13	1	3			TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chr7:150554081C>T	ENST00000493429.1	+	4	1107	c.523C>T	c.(523-525)Caa>Taa	p.Q175*	AOC1_ENST00000416793.2_Nonsense_Mutation_p.Q175*|AOC1_ENST00000360937.4_Nonsense_Mutation_p.Q175*|AOC1_ENST00000467291.1_Nonsense_Mutation_p.Q175*			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	175					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	CTTCTCATTCCAAGACTGCCA	0.582																																						ENST00000493429.1																			0											c.(523-525)Caa>Taa		amine oxidase, copper containing 1							76	77	76					7																	150554081		2010	4176	6186	SO:0001587	stop_gained	26							g.chr7:150554081C>T	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"diamine oxidase"	104610	"amiloride binding protein 1 (amine oxidase (copper-containing))"	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.523C>T	7.37:g.150554081C>T	ENSP00000418614:p.Gln175*					AOC1_ENST00000416793.2_Nonsense_Mutation_p.Q175*|AOC1_ENST00000360937.4_Nonsense_Mutation_p.Q175*|AOC1_ENST00000467291.1_Nonsense_Mutation_p.Q175*	p.Q175*							4	1107	+								C9J690|Q16683|Q16684|Q56II4|Q6GU42	Nonsense_Mutation	SNP	ENST00000493429.1	37	c.523C>T	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008422	0.75046	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000460213;ENST00000360937;ENST00000416793;ENST00000437714;ENST00000483043	.	.	.	5.45	2.57	0.30868	.	1.165620	0.06129	N	0.670192	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-21.7051	3.5456	0.07827	0.2992:0.4614:0.1577:0.0817	.	.	.	.	X	175;175;175;175;175;51;175	.	ENSP00000354193:Q175X	Q	+	1	0	ABP1	150185014	0.000000	0.05858	0.001000	0.08648	0.261000	0.26267	0.377000	0.20552	0.237000	0.21200	0.655000	0.94253	CAA		0.582	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		40	111	0	0	0	0.006999	0	40	111					T	150554081	C	T	150554081	4	4	18	1	0	0	0	0	0	1	0	0	98	595	21	2	525	2	ABP1	7	150554081	Nonsense_Mutation	SNP	C	TCGA-BJ-A192-01A-31D-A13W-08		150554081	8584582	4	520											
MSI1	4440	broad.mit.edu	37	chr12	120805884	120805884	+	Frame_Shift_Del	DEL	A	A	-													cctggtccatgaaagtgacgAagccgaaacccctgcgcgcc							TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chr12:120805884delA	ENST00000257552.2	-	4	282	c.194delT	c.(193-195)ttcfs	p.F65fs	RPS27P25_ENST00000477404.1_RNA	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	65	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAAAGTGACGAAGCCGAAACC	0.657																																						ENST00000257552.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19						c.(193-195)tcfs		musashi RNA-binding protein 1							39	33	35					12																	120805884		2203	4300	6503	SO:0001589	frameshift_variant	4440				nervous system development	cytoplasm|nucleus	nucleotide binding	g.chr12:120805884delA	AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"RNA binding motif (RRM) containing"	7330	protein-coding gene	gene with protein product		603328	"Musashi (Drosophila) homolog 1", "musashi homolog 1 (Drosophila)"			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.194delT	12.37:g.120805884delA	ENSP00000257552:p.Phe65fs						p.F65fs	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN			4	282	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		65			RRM 1.		Q96PU0|Q96PU1|Q96PU2|Q96PU3	Frame_Shift_Del	DEL	ENST00000257552.2	37	c.194delT	CCDS9196.1																																																																																				0.657	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403629.1	NM_002442		9	11						9	11	---	---	---	---	-	120805884	A	-	120805884	7	5	18	1	0	1	0	1	0	0	0	0	9875	246	9	0	938	0	MSI1	12	120805884	Frame_Shift_Del	DEL	A	TCGA-BJ-A192-01A-31D-A13W-08		120805884	13046011	5	521											
ERAL1	26284	broad.mit.edu	37	chr17	27182067	27182067	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtaatggctgcccccagCtggcgcggggctaggcttgt	16	12	0	0			TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chr17:27182067C>T	ENST00000254928.5	+	1	112	c.15C>T	c.(13-15)agC>agT	p.S5S	FAM222B_ENST00000583953.1_5'Flank|ERAL1_ENST00000578001.1_3'UTR	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	5					ribosomal small subunit assembly (GO:0000028)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			CTGCCCCCAGCTGGCGCGGGG	0.612																																						ENST00000254928.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11						c.(13-15)agC>agT		Era-like 12S mitochondrial rRNA chaperone 1							29	30	30					17																	27182067		2199	4294	6493	SO:0001819	synonymous_variant	26284				ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding	g.chr17:27182067C>T	AF082657	CCDS11244.1	17q11.2	2013-05-22	2013-05-22		ENSG00000132591	ENSG00000132591			3424	protein-coding gene	gene with protein product		607435	"Era (E. coli G-protein homolog)-like 1", "Era G-protein-like 1 (E. coli)"			10945472, 20604745	Standard	NM_005702		Approved	HERA-B	uc002hcy.1	O75616	OTTHUMG00000132675	ENST00000254928.5:c.15C>T	17.37:g.27182067C>T						ERAL1_ENST00000578001.1_3'UTR	p.S5S	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)		1	112	+	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		5					B3KN21|C9JEC6|O75617|Q8WUY4|Q96LE2|Q96TC0	Silent	SNP	ENST00000254928.5	37	c.15C>T	CCDS11244.1																																																																																				0.612	ERAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255937.2			5	26	0	0	0	0.001168	0	5	26					T	27182067	C	T	27182067	2	4	18	1	0	0	0	0	0	0	0	1	5202	796	28	2		2	ERAL1	17	27182067	Silent	SNP	C	TCGA-BJ-A192-01A-31D-A13W-08		27182067	54013143	6	522											
KEAP1	9817	broad.mit.edu	37	chr19	10600426	10600426	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggtttgtcccgtcaaagcCccccacggcataaaggagac	11	14	1	1			TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chr19:10600426C>T	ENST00000171111.5	-	4	1976	c.1429G>A	c.(1429-1431)Ggc>Agc	p.G477S	CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000588024.1_5'Flank|KEAP1_ENST00000393623.2_Missense_Mutation_p.G477S	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	477					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	CCGTCAAAGCCCCCCACGGCA	0.577																																						ENST00000171111.5																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92						c.(1429-1431)Ggc>Agc		kelch-like ECH-associated protein 1							85	69	74					19																	10600426		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10600426C>T	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"Kelch-like", "BTB/POZ domain containing"	23177	protein-coding gene	gene with protein product	"kelch-like family member 19"	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1429G>A	19.37:g.10600426C>T	ENSP00000171111:p.Gly477Ser					KEAP1_ENST00000393623.2_Missense_Mutation_p.G477S	p.G477S	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		4	1976	-			477					B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.1429G>A	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352299	0.82132	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	D;D	0.99494	-6.01;-6.01	5.79	5.79	0.91817	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.99743	0.9898	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97355	0.9966	10	0.87932	D	0	.	17.5827	0.87973	0.0:1.0:0.0:0.0	.	477	Q14145	KEAP1_HUMAN	S	477	ENSP00000171111:G477S;ENSP00000377245:G477S	ENSP00000171111:G477S	G	-	1	0	KEAP1	10461426	1.000000	0.71417	1.000000	0.80357	0.123000	0.20343	7.509000	0.81698	2.752000	0.94435	0.558000	0.71614	GGC		0.577	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		12	8	0	0	0	0.010729	0	12	8					T	10600426	C	T	10600426	3	4	18	1	0	0	0	0	1	0	0	0	8141	623	22	2	457	2	KEAP1	19	10600426	Missense_Mutation	SNP	C	TCGA-BJ-A192-01A-31D-A13W-08		10600426	48528557	7	523											
NFKBID	84807	broad.mit.edu	37	chr19	36387021	36387021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggatggccgtgtggagcGgggtgaggcctgcagaatgg	20	8	0	2			TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chr19:36387021G>A	ENST00000396901.1	-	9	1040	c.467C>T	c.(466-468)cCg>cTg	p.P156L	NFKBID_ENST00000585544.1_5'Flank|NFKBID_ENST00000606253.1_Missense_Mutation_p.P156L|NFKBID_ENST00000352614.2_Missense_Mutation_p.P308L	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	156					inflammatory response (GO:0006954)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|positive regulation of thymocyte apoptotic process (GO:0070245)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						CGTGTGGAGCGGGGTGAGGCC	0.647																																						ENST00000396901.1																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						c.(466-468)cCg>cTg		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta							119	148	138					19																	36387021		2125	4219	6344	SO:0001583	missense	84807				inflammatory response	nucleus		g.chr19:36387021G>A	AF385434	CCDS42552.1	19q13.12	2013-01-10				ENSG00000167604		"Ankyrin repeat domain containing"	15671	protein-coding gene	gene with protein product						12477932	Standard	NM_139239		Approved	TA-NFKBH, IkappaBNS	uc002oci.1	Q8NI38		ENST00000396901.1:c.467C>T	19.37:g.36387021G>A	ENSP00000380109:p.Pro156Leu					NFKBID_ENST00000606253.1_Missense_Mutation_p.P156L|NFKBID_ENST00000352614.2_Missense_Mutation_p.P308L	p.P156L	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN			9	1040	-			156					Q8NI39|Q9BRG9	Missense_Mutation	SNP	ENST00000396901.1	37	c.467C>T	CCDS42552.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389740	0.82902	.	.	ENSG00000167604	ENST00000352614;ENST00000396901	T;T	0.51817	0.69;0.69	5.13	5.13	0.70059	Ankyrin repeat-containing domain (3);	0.117559	0.64402	D	0.000017	T	0.64316	0.2587	M	0.88979	2.995	0.80722	D	1	D;D	0.57571	0.975;0.98	P;P	0.49477	0.6;0.612	T	0.74438	-0.3665	10	0.87932	D	0	.	16.0724	0.80943	0.0:0.0:1.0:0.0	.	308;156	Q8NI38-2;Q8NI38	.;IKBD_HUMAN	L	308;156	ENSP00000252985:P308L;ENSP00000380109:P156L	ENSP00000252985:P308L	P	-	2	0	NFKBID	41078861	1.000000	0.71417	0.933000	0.37362	0.911000	0.54048	7.924000	0.87555	2.393000	0.81446	0.561000	0.74099	CCG		0.647	NFKBID-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452927.3	NM_032721		9	75	0	0	0	0.006214	0	9	75					A	36387021	G	A	36387021	3	1	18	1	0	0	0	0	1	0	0	0	10379	1116	39	1	490	1	NFKBID	19	36387021	Missense_Mutation	SNP	G	TCGA-BJ-A192-01A-31D-A13W-08	25786595	36387021	22741962	8	524											
LGALS13	29124	broad.mit.edu	37	chr19	40095966	40095966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggagacaacagactacGtgccctttgaggatggcaaa	13	8	0	3			TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chr19:40095966G>A	ENST00000221797.4	+	3	286	c.241G>A	c.(241-243)Gtg>Atg	p.V81M		NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	lectin, galactoside-binding, soluble, 13	81	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|phospholipid metabolic process (GO:0006644)		carbohydrate binding (GO:0030246)|lysophospholipase activity (GO:0004622)			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			AACAGACTACGTGCCCTTTGA	0.493																																						ENST00000221797.4																			0				lung(5)|ovary(1)|urinary_tract(1)	7						c.(241-243)Gtg>Atg		lectin, galactoside-binding, soluble, 13							220	164	183					19																	40095966		2203	4300	6503	SO:0001583	missense	29124				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding	g.chr19:40095966G>A	AF117383	CCDS33024.1	19q13.2	2014-03-19	2008-07-25		ENSG00000105198	ENSG00000105198		"Lectins, galactoside-binding"	15449	protein-coding gene	gene with protein product	"galectin 13"	608717				6856484, 10527825	Standard	NM_013268		Approved	PP13, PLAC8	uc002omb.3	Q9UHV8	OTTHUMG00000183073	ENST00000221797.4:c.241G>A	19.37:g.40095966G>A	ENSP00000221797:p.Val81Met						p.V81M	NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)		3	286	+	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		81			Galectin.		C5HZ15	Missense_Mutation	SNP	ENST00000221797.4	37	c.241G>A	CCDS33024.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.695544	0.00098	.	.	ENSG00000105198	ENST00000221797	T	0.05447	3.44	0.744	-0.815	0.10843	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.01800	0.0057	N	0.02674	-0.535	0.09310	N	1	B	0.23058	0.079	B	0.18871	0.023	T	0.44559	-0.9320	8	0.02654	T	1	.	.	.	.	.	81	Q9UHV8	PP13_HUMAN	M	81	ENSP00000221797:V81M	ENSP00000221797:V81M	V	+	1	0	LGALS13	44787806	0.033000	0.19621	0.003000	0.11579	0.043000	0.13939	-0.033000	0.12246	-0.333000	0.08476	0.305000	0.20034	GTG		0.493	LGALS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464968.1	NM_013268		31	47	0	0	0	0.010818	0	31	47					A	40095966	G	A	40095966	3	1	18	1	0	0	0	0	1	0	0	0	8740	1145	40	1	251	1	LGALS13	19	40095966	Missense_Mutation	SNP	G	TCGA-BJ-A192-01A-31D-A13W-08	3708945	40095966	19033017	9	525											
SNX27	81609	broad.mit.edu	37	chr1	151584734	151584735	+	In_Frame_Ins	INS	-	-	GGC													cccctcacaggaacggaggtINSggcggcggcggcggggggtc					rs567208173	byFrequency	TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr1:151584734_151584735insGGC	ENST00000458013.2	+	1	177_178	c.57_58insGGC	c.(58-60)ggc>GGCggc	p.20_20G>GG	SNX27_ENST00000368843.3_In_Frame_Ins_p.20_20G>GG|RP11-404E16.1_ENST00000504583.2_RNA			Q96L92	SNX27_HUMAN	sorting nexin family member 27	20					endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGAAcggaggtggcggcggcgg	0.738														3	0.000599042	8e-04	0.0014	5008	,	,		10116	0		0.001	False		,,,				2504	0				Colon(46;291 966 40145 41237 41888)	ENST00000368843.3																			0				central_nervous_system(1)|large_intestine(2)|ovary(2)	5						c.(55-60)gggcgg>ggGGCgcgg		sorting nexin family member 27																																				SO:0001652	inframe_insertion	81609				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding	g.chr1:151584734_151584735insGGC	AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"Sorting nexins"	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.67_69dupGGC	1.37:g.151584741_151584743dupGGC	ENSP00000400333:p.Gly25dup					SNX27_ENST00000458013.2_In_Frame_Ins_p.19_20GR>GAR|RP11-404E16.1_ENST00000504583.2_RNA	p.19_20GR>GAR	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		1	177_178	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		19					Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	In_Frame_Ins	INS	ENST00000458013.2	37	c.57_58insGGC																																																																																					0.738	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3	NM_030918		7	2						7	2	---	---	---	---	GGC	151584735	-	GGC	151584734	7	5	19	1	0	1	1	0	0	0	0	0	14897	1683	59	0	59	0	SNX27	1	151584734	In_Frame_Ins	INS	-	TCGA-BJ-A28R-01A-11D-A16O-08		151584734	97665887	1	526											
TPM3	7170	broad.mit.edu	37	chr1	154145568	154145568	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggtcacttacctcttcatActtcctatctgcctcttctg	4	14	6	0			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr1:154145568A>G	ENST00000368530.2	-	4	679	c.487T>C	c.(487-489)Tat>Cat	p.Y163H	TPM3_ENST00000469717.1_5'UTR|TPM3_ENST00000271850.7_Missense_Mutation_p.Y163H|TPM3_ENST00000302206.5_Missense_Mutation_p.Y36H|TPM3_ENST00000341372.3_Missense_Mutation_p.Y101H|TPM3_ENST00000328159.4_Missense_Mutation_p.Y126H|TPM3_ENST00000368531.2_Missense_Mutation_p.Y126H|TPM3_ENST00000368533.3_Missense_Mutation_p.Y126H|TPM3_ENST00000330188.9_Missense_Mutation_p.Y126H|TPM3_ENST00000323144.7_Missense_Mutation_p.Y126H|TPM3_ENST00000341485.5_Missense_Mutation_p.Y110H	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3	163					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle thin filament tropomyosin (GO:0005862)|stress fiber (GO:0001725)			TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					ACCTCTTCATACTTCCTATCT	0.428			T	"NTRK1, ALK, ROS1"	"papillary thyroid, ALCL, NSCLC"																																	ENST00000368533.3				Dom	yes		1	1q22-q23	7170	T	tropomyosin 3			"E, L"	"NTRK1, ALK, ROS1"		"papillary thyroid, ALCL, NSCLC"	TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(376-378)Tat>Cat		tropomyosin 3							198	167	178					1																	154145568		2203	4300	6503	SO:0001583	missense	7170				cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding	g.chr1:154145568A>G	BC008425	CCDS1060.1, CCDS41400.1, CCDS41401.1, CCDS41402.1, CCDS41403.1, CCDS60274.1, CCDS60275.1, CCDS72922.1	1q21.2	2014-09-17			ENSG00000143549	ENSG00000143549		"Tropomyosins"	12012	protein-coding gene	gene with protein product		191030		NEM1		1829807	Standard	NM_153649		Approved	TRK	uc001fec.2	P06753	OTTHUMG00000035853	ENST00000368530.2:c.487T>C	1.37:g.154145568A>G	ENSP00000357516:p.Tyr163His					TPM3_ENST00000368530.2_Missense_Mutation_p.Y163H|TPM3_ENST00000469717.1_5'UTR|TPM3_ENST00000368531.2_Missense_Mutation_p.Y126H|TPM3_ENST00000341485.5_Missense_Mutation_p.Y110H|TPM3_ENST00000271850.7_Missense_Mutation_p.Y163H|TPM3_ENST00000341372.3_Missense_Mutation_p.Y101H|TPM3_ENST00000330188.9_Missense_Mutation_p.Y126H|TPM3_ENST00000328159.4_Missense_Mutation_p.Y126H|TPM3_ENST00000323144.7_Missense_Mutation_p.Y126H|TPM3_ENST00000302206.5_Missense_Mutation_p.Y36H	p.Y126H	NM_001043352.1|NM_001278188.1|NM_153649.3	NP_001036817.1|NP_001265117.1|NP_705935.1	P06753	TPM3_HUMAN			3	428	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		162					D3DV71|P12324|Q2QD06|Q5VU58|Q5VU63|Q5VU66|Q5VU71|Q5VU72|Q8TCG3|Q969Q2|Q9NQH8	Missense_Mutation	SNP	ENST00000368530.2	37	c.376T>C	CCDS41403.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.416590	0.83449	.	.	ENSG00000143549	ENST00000368533;ENST00000341485;ENST00000330188;ENST00000341372;ENST00000328159;ENST00000271850;ENST00000302206;ENST00000368531;ENST00000323144;ENST00000368530	D;D;D;D;D;D;D;D;D;D	0.98150	-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.99124	0.9698	H	0.95539	3.685	0.51233	D	0.999917	P;D;D;D;B;P;B	0.76494	0.885;0.999;0.999;0.999;0.275;0.822;0.108	D;D;D;D;B;P;P	0.97110	0.916;0.999;1.0;0.993;0.374;0.897;0.56	D	0.99301	1.0901	10	0.87932	D	0	-1.777	16.2588	0.82530	1.0:0.0:0.0:0.0	.	60;126;162;126;126;126;126	B4DQ80;Q5VU58;P06753;P06753-3;P06753-2;Q5VU72;Q5VU66	.;.;TPM3_HUMAN;.;.;.;.	H	126;110;126;102;126;163;36;126;126;163	ENSP00000357521:Y126H;ENSP00000341653:Y110H;ENSP00000339035:Y126H;ENSP00000339378:Y102H;ENSP00000357520:Y126H;ENSP00000271850:Y163H;ENSP00000307712:Y36H;ENSP00000357517:Y126H;ENSP00000357518:Y126H;ENSP00000357516:Y163H	ENSP00000271850:Y163H	Y	-	1	0	TPM3	152412192	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.246000	0.95438	2.243000	0.73865	0.459000	0.35465	TAT		0.428	TPM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087271.2	NM_152263		47	89	0	0	0	0.00361	0	47	89					G	154145568	A	G	154145568	3	3	19	1	0	0	0	0	1	0	0	0	16404	391	14	3	649	3	TPM3	1	154145568	Missense_Mutation	SNP	A	TCGA-BJ-A28R-01A-11D-A16O-08	2560834	154145568	95105053	2	527											
XPR1	9213	broad.mit.edu	37	chr1	180651511	180651511	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aataggctttcaaggatatgCtgtattcagctcaggaccag	10	8	3	0			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr1:180651511C>T	ENST00000367590.4	+	2	283	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	XPR1_ENST00000367589.3_Silent_p.L29L	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	29	SPX. {ECO:0000255|PROSITE- ProRule:PRU00714}.				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)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						CAAGGATATGCTGTATTCAGC	0.328																																						ENST00000367590.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						c.(85-87)Ctg>Ttg		xenotropic and polytropic retrovirus receptor 1							98	104	102					1																	180651511		2203	4299	6502	SO:0001819	synonymous_variant	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180651511C>T	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"xenotropic and polytropic retrovirus receptor"			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.85C>T	1.37:g.180651511C>T						XPR1_ENST00000367589.3_Silent_p.L29L	p.L29L	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN			2	283	+			29			SPX.		O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Silent	SNP	ENST00000367590.4	37	c.85C>T	CCDS1340.1																																																																																				0.328	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		5	173	0	0	0	0.001168	0	5	173					T	180651511	C	T	180651511	2	4	19	1	0	0	0	0	0	0	0	1	17448	796	28	2		2	XPR1	1	180651511	Silent	SNP	C	TCGA-BJ-A28R-01A-11D-A16O-08	26505943	180651511	68599110	3	528											
PPP1R12B	4660	broad.mit.edu	37	chr1	202394748	202394748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcagatgttgcaggatgCccgccagtggctcaacagtg	14	11	1	1			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr1:202394748C>T	ENST00000608999.1	+	4	749	c.596C>T	c.(595-597)gCc>gTc	p.A199V	PPP1R12B_ENST00000480184.1_Missense_Mutation_p.A199V|PPP1R12B_ENST00000356764.2_Missense_Mutation_p.A199V|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.A199V	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	199					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)	p.A199V(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TTGCAGGATGCCCGCCAGTGG	0.522																																						ENST00000406302.3																			1	Substitution - Missense(1)	p.A199V(1)	kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41						c.(595-597)gCc>gTc		protein phosphatase 1, regulatory subunit 12B							190	207	201					1																	202394748		2203	4300	6503	SO:0001583	missense	4660				regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	g.chr1:202394748C>T	AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7619	protein-coding gene	gene with protein product	"myosin phosphatase regulatory subunit", "myosin phosphatase, target subunit 2"	603768	"protein phosphatase 1, regulatory (inhibitor) subunit 12B"	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.596C>T	1.37:g.202394748C>T	ENSP00000476755:p.Ala199Val					PPP1R12B_ENST00000336894.4_Missense_Mutation_p.A199V|PPP1R12B_ENST00000480184.1_Missense_Mutation_p.A199V|PPP1R12B_ENST00000356764.2_Missense_Mutation_p.A199V	p.A199V	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		4	749	+			199					A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Missense_Mutation	SNP	ENST00000608999.1	37	c.596C>T	CCDS1426.1	.	.	.	.	.	.	.	.	.	.	C	31	5.069581	0.93950	.	.	ENSG00000077157	ENST00000406302;ENST00000336894;ENST00000480184;ENST00000356764	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.5	5.5	0.81552	Ankyrin repeat-containing domain (3);	0.094539	0.46442	D	0.000281	T	0.68109	0.2965	L	0.58669	1.825	0.80722	D	1	D;D;D;D	0.89917	0.964;0.985;1.0;1.0	P;B;D;D	0.67103	0.478;0.403;0.944;0.949	T	0.61633	-0.7023	10	0.22706	T	0.39	.	19.3998	0.94623	0.0:1.0:0.0:0.0	.	199;199;199;199	O60237-2;O60237;F8W8M3;Q2TAI8	.;MYPT2_HUMAN;.;.	V	199	ENSP00000384496:A199V;ENSP00000337897:A199V;ENSP00000417159:A199V;ENSP00000349206:A199V	ENSP00000337897:A199V	A	+	2	0	PPP1R12B	200661371	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.798000	0.85924	2.586000	0.87340	0.460000	0.39030	GCC		0.522	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105		5	316	0	0	0	0.000602	0	5	316					T	202394748	C	T	202394748	3	4	19	1	0	0	0	0	1	0	0	0	12355	739	26	2	610	2	PPP1R12B	1	202394748	Missense_Mutation	SNP	C	TCGA-BJ-A28R-01A-11D-A16O-08	21743237	202394748	46855873	4	529											
SCN10A	6336	broad.mit.edu	37	chr3	38755465	38755465	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ttacccgcatgccttcaaatCgagaaagagcccgcagtggc	10	13	1	2			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr3:38755465C>G	ENST00000449082.2	-	21	3787	c.3788G>C	c.(3787-3789)cGa>cCa	p.R1263P		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1263					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GCCTTCAAATCGAGAAAGAGC	0.537																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(3787-3789)cGa>cCa		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						66	68	67					3																	38755465		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38755465C>G	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3788G>C	3.37:g.38755465C>G	ENSP00000390600:p.Arg1263Pro						p.R1263P	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	21	3787	-			1263					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.3788G>C	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358887	0.82353	.	.	ENSG00000185313	ENST00000449082	D	0.98807	-5.15	4.14	4.14	0.48551	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99569	0.9845	H	0.99855	4.85	0.54753	D	0.999983	D	0.63046	0.992	D	0.65140	0.932	D	0.97300	0.9930	10	0.87932	D	0	.	16.5766	0.84681	0.0:1.0:0.0:0.0	.	1263	Q9Y5Y9	SCNAA_HUMAN	P	1263	ENSP00000390600:R1263P	ENSP00000390600:R1263P	R	-	2	0	SCN10A	38730469	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.917000	0.69989	2.133000	0.65898	0.411000	0.27672	CGA		0.537	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		8	86	0	0	0	0.00308	0	8	86					G	38755465	C	G	38755465	3	3	19	1	0	0	0	0	1	0	0	0	13912	884	31	4	2110	4	SCN10A	3	38755465	Missense_Mutation	SNP	C	TCGA-BJ-A28R-01A-11D-A16O-08		38755465	159266965	5	530											
YEATS2	55689	broad.mit.edu	37	chr3	183518272	183518272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgaagactgaaccagaaaCacctggaccgagttgcctct	10	11	1	4			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr3:183518272C>T	ENST00000305135.5	+	24	3539	c.3344C>T	c.(3343-3345)aCa>aTa	p.T1115I	AC131160.1_ENST00000401347.1_RNA	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1115					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GAACCAGAAACACCTGGACCG	0.473																																						ENST00000305135.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(3343-3345)aCa>aTa		YEATS domain containing 2							68	70	70					3																	183518272		2034	4203	6237	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183518272C>T	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.3344C>T	3.37:g.183518272C>T	ENSP00000306983:p.Thr1115Ile						p.T1115I	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		24	3539	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		1115					A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.3344C>T	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.931652	0.52866	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.22336	1.96	5.94	5.94	0.96194	.	0.523372	0.19797	N	0.105832	T	0.16938	0.0407	N	0.22421	0.69	0.23865	N	0.996626	B	0.34103	0.437	B	0.27500	0.08	T	0.18493	-1.0335	10	0.66056	D	0.02	-12.8255	18.5399	0.91024	0.0:1.0:0.0:0.0	.	1115	Q9ULM3	YETS2_HUMAN	I	1115	ENSP00000306983:T1115I	ENSP00000306983:T1115I	T	+	2	0	YEATS2	185000966	0.177000	0.23109	0.588000	0.28705	0.831000	0.47069	2.303000	0.43646	2.816000	0.96949	0.563000	0.77884	ACA		0.473	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		16	51	0	0	0	0.006122	0	16	51					T	183518272	C	T	183518272	3	4	19	1	0	0	0	0	1	0	0	0	17469	478	17	2	3434	2	YEATS2	3	183518272	Missense_Mutation	SNP	C	TCGA-BJ-A28R-01A-11D-A16O-08	144762807	183518272	14504158	6	531											
PRSS12	8492	broad.mit.edu	37	chr4	119229634	119229634	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagctgcatccttatcagTccatccatcatcacagattg	5	14	3	1			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr4:119229634T>C	ENST00000296498.3	-	8	1870	c.1588A>G	c.(1588-1590)Act>Gct	p.T530A		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	530	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TCCTTATCAGTCCATCCATCA	0.408																																						ENST00000296498.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(1588-1590)Act>Gct		protease, serine, 12 (neurotrypsin, motopsin)							293	247	263					4																	119229634		2203	4300	6503	SO:0001583	missense	8492					membrane	scavenger receptor activity	g.chr4:119229634T>C	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"Serine peptidases / Serine peptidases"	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.1588A>G	4.37:g.119229634T>C	ENSP00000296498:p.Thr530Ala						p.T530A	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN			8	1870	-			530			SRCR 4.		Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	37	c.1588A>G	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	T	19.54	3.846091	0.71603	.	.	ENSG00000164099	ENST00000296498	T	0.30714	1.52	5.86	5.86	0.93980	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.136421	0.64402	D	0.000003	T	0.44871	0.1314	L	0.53249	1.67	0.51482	D	0.999922	D	0.55385	0.971	P	0.60286	0.872	T	0.30563	-0.9974	10	0.40728	T	0.16	.	11.1179	0.48270	0.1706:0.0:0.0:0.8294	.	530	P56730	NETR_HUMAN	A	530	ENSP00000296498:T530A	ENSP00000296498:T530A	T	-	1	0	PRSS12	119449082	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	5.899000	0.69846	2.237000	0.73441	0.528000	0.53228	ACT		0.408	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			3	124	0	0	0	0.004672	0	3	124					C	119229634	T	C	119229634	3	2	19	1	0	0	0	0	1	0	0	0	12615	1667	58	3	1063	3	PRSS12	4	119229634	Missense_Mutation	SNP	T	TCGA-BJ-A28R-01A-11D-A16O-08		119229634	71924642	7	532											
ARID1B	57492	broad.mit.edu	37	chr6	157525128	157525128	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgctactttcaatctctccCaggtaagccagcatagtcca	6	13	2	0			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr6:157525128C>A	ENST00000350026.5	+	18	4985	c.4984C>A	c.(4984-4986)Cag>Aag	p.Q1662K	ARID1B_ENST00000275248.4_Missense_Mutation_p.Q1657K|ARID1B_ENST00000367148.1_Missense_Mutation_p.Q1715K|ARID1B_ENST00000346085.5_Missense_Mutation_p.Q1675K	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1662					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAATCTCTCCCAGGTAAGCCA	0.438																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(5023-5025)Cag>Aag		AT rich interactive domain 1B (SWI1-like)							293	293	293					6																	157525128		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157525128C>A	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4984C>A	6.37:g.157525128C>A	ENSP00000055163:p.Gln1662Lys					ARID1B_ENST00000367148.1_Missense_Mutation_p.Q1715K|ARID1B_ENST00000275248.4_Missense_Mutation_p.Q1657K|ARID1B_ENST00000350026.5_Missense_Mutation_p.Q1662K	p.Q1675K	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	19	5024	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1662					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.5023C>A	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	23.6	4.441293	0.83993	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.02369	4.65;4.64;4.65;4.65;4.32	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.11665	0.0284	M	0.78049	2.395	0.80722	D	1	D;D;D	0.67145	0.993;0.996;0.996	D;D;D	0.72982	0.952;0.979;0.979	T	0.01021	-1.1478	10	0.72032	D	0.01	.	19.7096	0.96089	0.0:1.0:0.0:0.0	.	1662;1675;1657	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	K	1675;1662;1715;1657;1184	ENSP00000344546:Q1675K;ENSP00000055163:Q1662K;ENSP00000356116:Q1715K;ENSP00000275248:Q1657K;ENSP00000412835:Q1184K	ENSP00000275248:Q1657K	Q	+	1	0	ARID1B	157566820	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.071000	0.71229	2.652000	0.90054	0.655000	0.94253	CAG		0.438	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		6	395	1	0	0.00198382	0.001984	0.00519897	6	395					A	157525128	C	A	157525128	3	1	19	1	0	0	0	0	1	0	0	0	914	595	21	4	5097	4	ARID1B	6	157525128	Missense_Mutation	SNP	C	TCGA-BJ-A28R-01A-11D-A16O-08		157525128	13589939	8	533											
CCDC129	223075	broad.mit.edu	37	chr7	31682443	31682443	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcgagcatgtctttttcaAgccaagaagcgaatgccttg	12	9	2	1			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr7:31682443A>G	ENST00000407970.3	+	11	1497	c.1459A>G	c.(1459-1461)Agc>Ggc	p.S487G	CCDC129_ENST00000319386.3_Missense_Mutation_p.S339G|CCDC129_ENST00000409210.1_Missense_Mutation_p.S395G|CCDC129_ENST00000451887.2_Missense_Mutation_p.S513G	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	487										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GTCTTTTTCAAGCCAAGAAGC	0.512																																						ENST00000319386.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(1015-1017)Agc>Ggc		coiled-coil domain containing 129							108	108	108					7																	31682443		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31682443A>G	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1459A>G	7.37:g.31682443A>G	ENSP00000384416:p.Ser487Gly					CCDC129_ENST00000409210.1_Missense_Mutation_p.S395G|CCDC129_ENST00000407970.3_Missense_Mutation_p.S487G|CCDC129_ENST00000451887.2_Missense_Mutation_p.S513G	p.S339G			Q6ZRS4	CC129_HUMAN			11	2008	+			487					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.1015A>G	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	A	9.556	1.117320	0.20795	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.35048	1.33;1.67;1.67;1.41	5.85	3.46	0.39613	.	0.510961	0.20395	N	0.093176	T	0.31263	0.0791	M	0.61703	1.905	0.24045	N	0.996069	B;B;B;B	0.28552	0.058;0.215;0.215;0.058	B;B;B;B	0.29663	0.028;0.105;0.063;0.016	T	0.23048	-1.0199	10	0.28530	T	0.3	-1.0063	5.351	0.16036	0.7627:0.0:0.0828:0.1545	.	513;497;487;339	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	G	339;487;513;497;395	ENSP00000313062:S339G;ENSP00000384416:S487G;ENSP00000395835:S513G;ENSP00000387214:S395G	ENSP00000313062:S339G	S	+	1	0	CCDC129	31648968	0.846000	0.29590	0.682000	0.30024	0.268000	0.26511	1.866000	0.39489	0.463000	0.27118	0.477000	0.44152	AGC		0.512	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		3	162	0	0	0	0.004672	0	3	162					G	31682443	A	G	31682443	3	3	19	1	0	0	0	0	1	0	0	0	2764	72	3	3	1497	3	CCDC129	7	31682443	Missense_Mutation	SNP	A	TCGA-BJ-A28R-01A-11D-A16O-08		31682443	127456220	9	534											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		36	58	0	0	0	0.006999	0	36	58					T	140453136	A	T	140453136	3	4	19	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A28R-01A-11D-A16O-08	108770693	140453136	18685527	10	535											
KCNV2	169522	broad.mit.edu	37	chr9	2718675	2718675	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gagatgctgtgcatgggcttCttcacgctcgagtacctgct	12	11	2	1			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr9:2718675C>T	ENST00000382082.3	+	1	1174	c.936C>T	c.(934-936)ttC>ttT	p.F312F		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	312					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GCATGGGCTTCTTCACGCTCG	0.687																																						ENST00000382082.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35						c.(934-936)ttC>ttT		potassium channel, subfamily V, member 2							43	47	46					9																	2718675		2203	4299	6502	SO:0001819	synonymous_variant	169522					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr9:2718675C>T	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.936C>T	9.37:g.2718675C>T							p.F312F	NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN		GBM - Glioblastoma multiforme(50;0.0257)	1	1174	+			312					Q5T6X0	Silent	SNP	ENST00000382082.3	37	c.936C>T	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	C	6.956	0.546250	0.13312	.	.	ENSG00000168263	ENST00000423608	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	T	0.74741	0.3756	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73839	-0.3856	4	.	.	.	.	18.8074	0.92043	0.0:1.0:0.0:0.0	.	.	.	.	F	263	.	.	L	+	1	0	KCNV2	2708675	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	3.250000	0.51445	2.434000	0.82447	0.563000	0.77884	CTT		0.687	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		5	64	0	0	0	0.001168	0	5	64					T	2718675	C	T	2718675	2	4	19	1	0	0	0	0	0	0	0	1	8095	912	32	2		2	KCNV2	9	2718675	Silent	SNP	C	TCGA-BJ-A28R-01A-11D-A16O-08		2718675	138494756	11	536											
IFNE	338376	broad.mit.edu	37	chr9	21481080	21481080	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cctccacctacctcgggcttCtaaactctgtagtaagctct	6	15	3	0			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr9:21481080C>G	ENST00000448696.3	-	1	1232	c.614G>C	c.(613-615)aGa>aCa	p.R205T	MIR31HG_ENST00000304425.3_RNA	NM_176891.4	NP_795372.1	Q86WN2	IFNE_HUMAN	interferon, epsilon	205					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			large_intestine(2)|lung(1)|skin(1)	4						CCTCGGGCTTCTAAACTCTGT	0.413																																						ENST00000448696.3																			0				large_intestine(2)|lung(1)|skin(1)	4						c.(613-615)aGa>aCa		interferon, epsilon							91	93	92					9																	21481080		2203	4300	6503	SO:0001583	missense	338376				defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21481080C>G	AY190045	CCDS34997.1	9p21.1	2008-12-12			ENSG00000184995	ENSG00000184995			18163	protein-coding gene	gene with protein product		615223				15546383, 17287131	Standard	NM_176891		Approved	IFNE1	uc003zpg.3	Q86WN2	OTTHUMG00000019672	ENST00000448696.3:c.614G>C	9.37:g.21481080C>G	ENSP00000418018:p.Arg205Thr					MIR31HG_ENST00000304425.3_RNA	p.R205T	NM_176891.4	NP_795372.1	Q86WN2	IFNE_HUMAN			1	1232	-			205						Missense_Mutation	SNP	ENST00000448696.3	37	c.614G>C	CCDS34997.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.578204	0.28180	.	.	ENSG00000184995	ENST00000448696	T	0.04706	3.57	4.9	1.17	0.20885	.	.	.	.	.	T	0.02848	0.0085	N	0.08118	0	0.09310	N	1	B	0.25105	0.118	B	0.23852	0.049	T	0.44390	-0.9331	9	0.87932	D	0	.	7.2139	0.25949	0.0:0.2582:0.0:0.7418	.	205	Q86WN2	IFNE_HUMAN	T	205	ENSP00000418018:R205T	ENSP00000418018:R205T	R	-	2	0	IFNE	21471080	0.003000	0.15002	0.000000	0.03702	0.008000	0.06430	0.371000	0.20450	0.083000	0.17047	-0.150000	0.13652	AGA		0.413	IFNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051901.2	NM_176891		4	195	0	0	0	0.000248	0	4	195					G	21481080	C	G	21481080	3	3	19	1	0	0	0	0	1	0	0	0	7547	913	32	4	16	4	IFNE	9	21481080	Missense_Mutation	SNP	C	TCGA-BJ-A28R-01A-11D-A16O-08	18762405	21481080	119732351	12	537											
BICD2	23299	broad.mit.edu	37	chr9	95480999	95480999	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgtggtgcggtccacggctGcctgcaggtgcttgatctgg	16	12	1	1			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr9:95480999G>T	ENST00000375512.3	-	5	1995	c.1928C>A	c.(1927-1929)gCa>gAa	p.A643E	BICD2_ENST00000356884.6_Missense_Mutation_p.A643E	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	643					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GTCCACGGCTGCCTGCAGGTG	0.622																																						ENST00000356884.6																			0				cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1927-1929)gCa>gAa		bicaudal D homolog 2 (Drosophila)							131	129	129					9																	95480999		2203	4300	6503	SO:0001583	missense	23299				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	g.chr9:95480999G>T	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.1928C>A	9.37:g.95480999G>T	ENSP00000364662:p.Ala643Glu					BICD2_ENST00000375512.3_Missense_Mutation_p.A643E	p.A643E	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN			5	1995	-			643					O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	c.1928C>A	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722012	0.30503	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.41400	1.0;1.0	5.39	4.49	0.54785	.	0.385347	0.30036	N	0.010567	T	0.32224	0.0822	L	0.36672	1.1	0.36659	D	0.877849	B;B	0.30146	0.228;0.27	B;B	0.34931	0.121;0.192	T	0.17501	-1.0367	10	0.08381	T	0.77	-5.8932	11.9756	0.53089	0.0847:0.0:0.9153:0.0	.	643;643	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	E	643	ENSP00000349351:A643E;ENSP00000364662:A643E	ENSP00000349351:A643E	A	-	2	0	BICD2	94520820	1.000000	0.71417	0.976000	0.42696	0.995000	0.86356	5.105000	0.64591	1.429000	0.47314	0.561000	0.74099	GCA		0.622	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250		6	162	1	0	0.00116845	0.001168	0.00317149	6	162					T	95480999	G	T	95480999	3	4	19	1	0	0	0	0	1	0	0	0	1429	1319	46	4	661	4	BICD2	9	95480999	Missense_Mutation	SNP	G	TCGA-BJ-A28R-01A-11D-A16O-08	73999919	95480999	45732432	13	538											
DHTKD1	55526	broad.mit.edu	37	chr10	12160774	12160774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccctcgtgttctgctccgGcaaacatttctactccctgg	8	15	2	0			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr10:12160774G>A	ENST00000263035.4	+	15	2491	c.2429G>A	c.(2428-2430)gGc>gAc	p.G810D	U6_ENST00000606801.1_RNA	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	810					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.G810D(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TTCTGCTCCGGCAAACATTTC	0.483																																						ENST00000263035.4																			1	Substitution - Missense(1)	p.G810D(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(2428-2430)gGc>gAc		dehydrogenase E1 and transketolase domain containing 1							148	160	156					10																	12160774		2203	4300	6503	SO:0001583	missense	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12160774G>A	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.2429G>A	10.37:g.12160774G>A	ENSP00000263035:p.Gly810Asp						p.G810D	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		15	2491	+		Renal(717;0.228)	810					Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	c.2429G>A	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644508	0.67358	.	.	ENSG00000181192	ENST00000263035	T	0.27890	1.64	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.73908	0.3647	H	0.98866	4.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85790	0.1367	10	0.87932	D	0	-8.3847	18.7995	0.92010	0.0:0.0:1.0:0.0	.	810	Q96HY7	DHTK1_HUMAN	D	810	ENSP00000263035:G810D	ENSP00000263035:G810D	G	+	2	0	DHTKD1	12200780	1.000000	0.71417	0.994000	0.49952	0.183000	0.23260	9.411000	0.97342	2.516000	0.84829	0.448000	0.29417	GGC		0.483	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		5	278	0	0	0	0.000602	0	5	278					A	12160774	G	A	12160774	3	1	19	1	0	0	0	0	1	0	0	0	4500	1203	42	2	2487	2	DHTKD1	10	12160774	Missense_Mutation	SNP	G	TCGA-BJ-A28R-01A-11D-A16O-08		12160774	123373973	14	539											
PTPRO	5800	broad.mit.edu	37	chr12	15713197	15713197	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgattatcttttggcatttTatattaatccttggtaagtg	7	5	1	1	rs150693746	byFrequency	TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr12:15713197T>C	ENST00000281171.4	+	17	3028	c.2698T>C	c.(2698-2700)Tat>Cat	p.Y900H	PTPRO_ENST00000544244.1_Intron|PTPRO_ENST00000348962.2_Intron|PTPRO_ENST00000442921.2_Missense_Mutation_p.Y89H|PTPRO_ENST00000445537.2_Missense_Mutation_p.Y89H|PTPRO_ENST00000542557.1_Intron	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	900					axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TTTGGCATTTTATATTAATCC	0.313																																						ENST00000281171.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(2698-2700)Tat>Cat		protein tyrosine phosphatase, receptor type, O		T	,HIS/TYR,,HIS/TYR,,HIS/TYR	1,4405	4.2+/-10.8	0,1,2202	184	168	173		,2698,,265,,265	5.4	1.0	12	dbSNP_134	173	0,8598		0,0,4299	no	intron,missense,intron,missense,intron,missense	PTPRO	NM_002848.3,NM_030667.2,NM_030668.2,NM_030669.2,NM_030670.2,NM_030671.2	,83,,83,,83	0,1,6501	CC,CT,TT		0.0,0.0227,0.0077	,probably-damaging,,probably-damaging,,probably-damaging	,900/1217,,89/406,,89/406	15713197	1,13003	2203	4299	6502	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15713197T>C	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9678	protein-coding gene	gene with protein product	"osteoclastic transmembrane protein-tyrosine phosphatase"	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.2698T>C	12.37:g.15713197T>C	ENSP00000281171:p.Tyr900His					PTPRO_ENST00000542557.1_Intron|PTPRO_ENST00000442921.2_Missense_Mutation_p.Y89H|PTPRO_ENST00000348962.2_Intron|PTPRO_ENST00000445537.2_Missense_Mutation_p.Y89H|PTPRO_ENST00000544244.1_Intron	p.Y900H	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN			17	3028	+		Hepatocellular(102;0.244)	900					A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.2698T>C	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.087730	0.76642	2.27E-4	0.0	ENSG00000151490	ENST00000281171;ENST00000442921;ENST00000445537	T;T;T	0.05139	3.49;3.62;3.62	5.44	5.44	0.79542	.	0.000000	0.46758	D	0.000261	T	0.14313	0.0346	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.10086	-1.0645	10	0.40728	T	0.16	.	15.6661	0.77230	0.0:0.0:0.0:1.0	.	900	Q16827	PTPRO_HUMAN	H	900;89;89	ENSP00000281171:Y900H;ENSP00000404188:Y89H;ENSP00000393449:Y89H	ENSP00000281171:Y900H	Y	+	1	0	PTPRO	15604464	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.521000	0.81832	2.285000	0.76669	0.533000	0.62120	TAT		0.313	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			3	120	0	0	0	0.000248	0	3	120					C	15713197	T	C	15713197	3	2	19	1	0	0	0	0	1	0	0	0	12809	1754	61	3	2764	3	PTPRO	12	15713197	Missense_Mutation	SNP	T	TCGA-BJ-A28R-01A-11D-A16O-08		15713197	118138698	15	540											
C16orf79	283870	broad.mit.edu	37	chr16	2260148	2260148	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgcccgtcgaacagcacCgcccagctgtggttgctctg	11	16	2	0	rs368580516		TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr16:2260148C>T	ENST00000562360.1	-	3	314	c.315G>A	c.(313-315)gcG>gcA	p.A105A	BRICD5_ENST00000566018.1_Silent_p.A105A|BRICD5_ENST00000328540.3_Silent_p.A105A|RP11-304L19.8_ENST00000561544.1_lincRNA			Q6PL45	BRID5_HUMAN	BRICHOS domain containing 5	105	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.					integral component of membrane (GO:0016021)											CGAACAGCACCGCCCAGCTGT	0.711													C|||	1	0.000199681	0	0	5008	,	,		16334	0		0	False		,,,				2504	0.001					ENST00000328540.3																			0											c.(313-315)gcG>gcA		BRICHOS domain containing 5		C		0,4386		0,0,2193	42	35	37		315	-11.1	0.4	16		37	1,8591		0,1,4295	no	coding-synonymous	C16orf79	NM_182563.3		0,1,6488	TT,TC,CC		0.0116,0.0,0.0077		105/229	2260148	1,12977	2193	4296	6489	SO:0001819	synonymous_variant	283870							g.chr16:2260148C>T	BC039154	CCDS10463.1	16p13.3	2012-10-10	2012-10-10	2012-10-10	ENSG00000182685	ENSG00000182685		"BRICHOS domain containing"	28309	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 79"	C16orf79		12477932	Standard	NM_182563		Approved	MGC21830	uc002cpi.2	Q6PL45	OTTHUMG00000128831	ENST00000562360.1:c.315G>A	16.37:g.2260148C>T						BRICD5_ENST00000562360.1_Silent_p.A105A|BRICD5_ENST00000566018.1_Silent_p.A105A	p.A105A	NM_182563.3	NP_872369.2					3	1431	-								C9J7K2|Q8IXU9	Silent	SNP	ENST00000562360.1	37	c.315G>A	CCDS10463.1																																																																																				0.711	BRICD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435091.1	NM_182563		7	9	0	0	0	0.001984	0	7	9					T	2260148	C	T	2260148	2	4	19	1	0	0	0	0	0	0	0	1	1836	639	23	1		1	C16orf79	16	2260148	Silent	SNP	C	TCGA-BJ-A28R-01A-11D-A16O-08		2260148	88094605	16	541											
ATMIN	23300	broad.mit.edu	37	chr16	81078068	81078068	+	Missense_Mutation	SNP	A	A	T													actcaaactgaagagagtgaActtagcaccatgaccaccga							TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr16:81078068A>T	ENST00000299575.4	+	4	1989	c.1965A>T	c.(1963-1965)gaA>gaT	p.E655D	ATMIN_ENST00000564241.1_Missense_Mutation_p.E499D|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000566488.1_Missense_Mutation_p.E499D	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	655					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						AAGAGAGTGAACTTAGCACCA	0.502																																						ENST00000566488.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(1495-1497)gaA>gaT		ATM interactor							64	69	67					16																	81078068		2202	4300	6502	SO:0001583	missense	23300				response to DNA damage stimulus	nucleus	zinc ion binding	g.chr16:81078068A>T	BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"Zinc fingers, C2H2-type"	29034	protein-coding gene	gene with protein product	"ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein", "ATM INteracting protein"	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.1965A>T	16.37:g.81078068A>T	ENSP00000299575:p.Glu655Asp					ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Missense_Mutation_p.E499D|ATMIN_ENST00000299575.4_Missense_Mutation_p.E655D	p.E499D			O43313	ATMIN_HUMAN			3	2460	+			655					A8K4H8|Q68DC9	Missense_Mutation	SNP	ENST00000299575.4	37	c.1497A>T	CCDS32494.1	.	.	.	.	.	.	.	.	.	.	A	14.27	2.483996	0.44147	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	T	0.37411	1.2	5.91	-8.63	0.00878	.	0.195482	0.53938	D	0.000045	T	0.18467	0.0443	L	0.46885	1.475	0.31658	N	0.645972	B	0.11235	0.004	B	0.09377	0.004	T	0.03969	-1.0988	10	0.27785	T	0.31	-3.9611	4.1144	0.10074	0.1826:0.1761:0.4655:0.1759	.	655	O43313	ATMIN_HUMAN	D	655;426	ENSP00000299575:E655D	ENSP00000299575:E655D	E	+	3	2	ATMIN	79635569	0.691000	0.27709	0.140000	0.22221	0.950000	0.60333	-0.236000	0.09003	-0.990000	0.03481	0.533000	0.62120	GAA		0.502	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251		6	106	0	0	0	0.00308	0	6	106					T	81078068	A	T	81078068	3	4	19	1	0	0	0	0	1	0	0	0	1110	40	2	5	1979	5	ATMIN	16	81078068	Missense_Mutation	SNP	A	TCGA-BJ-A28R-01A-11D-A16O-08	78817920	81078068	9276685	17	542	3	2									
ATMIN	23300	broad.mit.edu	37	chr16	81078069	81078069	+	Missense_Mutation	SNP	C	C	G													ctcaaactgaagagagtgaaCttagcaccatgaccaccgag							TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr16:81078069C>G	ENST00000299575.4	+	4	1990	c.1966C>G	c.(1966-1968)Ctt>Gtt	p.L656V	ATMIN_ENST00000564241.1_Missense_Mutation_p.L500V|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000566488.1_Missense_Mutation_p.L500V	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	656					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						AGAGAGTGAACTTAGCACCAT	0.502																																						ENST00000566488.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(1498-1500)Ctt>Gtt		ATM interactor							64	69	68					16																	81078069		2202	4300	6502	SO:0001583	missense	23300				response to DNA damage stimulus	nucleus	zinc ion binding	g.chr16:81078069C>G	BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"Zinc fingers, C2H2-type"	29034	protein-coding gene	gene with protein product	"ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein", "ATM INteracting protein"	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.1966C>G	16.37:g.81078069C>G	ENSP00000299575:p.Leu656Val					ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Missense_Mutation_p.L500V|ATMIN_ENST00000299575.4_Missense_Mutation_p.L656V	p.L500V			O43313	ATMIN_HUMAN			3	2461	+			656					A8K4H8|Q68DC9	Missense_Mutation	SNP	ENST00000299575.4	37	c.1498C>G	CCDS32494.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938555	0.73557	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	T	0.46451	0.87	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.64907	0.2641	M	0.78637	2.42	0.58432	D	0.999991	D	0.76494	0.999	D	0.80764	0.994	T	0.67662	-0.5613	10	0.87932	D	0	-20.2067	13.4829	0.61348	0.0:0.9291:0.0:0.0708	.	656	O43313	ATMIN_HUMAN	V	656;427	ENSP00000299575:L656V	ENSP00000299575:L656V	L	+	1	0	ATMIN	79635570	1.000000	0.71417	0.258000	0.24420	0.938000	0.57974	3.680000	0.54641	2.793000	0.96121	0.655000	0.94253	CTT		0.502	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251		6	110	0	0	0	0.00308	0	6	110					G	81078069	C	G	81078069	3	3	19	1	0	0	0	0	1	0	0	0	1110	565	20	4	1980	4	ATMIN	16	81078069	Missense_Mutation	SNP	C	TCGA-BJ-A28R-01A-11D-A16O-08	1	81078069	9276684	18	543	3	2									
MBTPS1	8720	broad.mit.edu	37	chr16	84118642	84118642	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gagaagcaacactggtccctGagagggcccggcacccccct	12	16	0	2			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr16:84118642G>C	ENST00000343411.3	-	10	1727	c.1232C>G	c.(1231-1233)tCa>tGa	p.S411*	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	411	Peptidase S8.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.S411*(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ACTGGTCCCTGAGAGGGCCCG	0.602											OREG0023982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000343411.3																			1	Substitution - Nonsense(1)	p.S411*(1)	urinary_tract(1)	NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1231-1233)tCa>tGa		membrane-bound transcription factor peptidase, site 1							87	74	78					16																	84118642		2200	4300	6500	SO:0001587	stop_gained	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84118642G>C	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"membrane-bound transcription factor protease, site 1"			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.1232C>G	16.37:g.84118642G>C	ENSP00000344223:p.Ser411*		OREG0023982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1226	MBTPS1_ENST00000569770.1_5'UTR	p.S411*	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN			10	1727	-			411			Serine protease.		A8K6V8|Q24JQ2|Q9UF67	Nonsense_Mutation	SNP	ENST00000343411.3	37	c.1232C>G	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	G	44	10.654229	0.99445	.	.	ENSG00000140943	ENST00000343411	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.6862	19.3469	0.94367	0.0:0.0:1.0:0.0	.	.	.	.	X	411	.	ENSP00000344223:S411X	S	-	2	0	MBTPS1	82676143	1.000000	0.71417	0.987000	0.45799	0.966000	0.64601	9.869000	0.99810	2.560000	0.86352	0.561000	0.74099	TCA		0.602	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		3	64	0	0	0	0.004672	0	3	64					C	84118642	G	C	84118642	4	2	19	1	0	0	0	0	0	1	0	0	9361	1294	45	4	1982	4	MBTPS1	16	84118642	Nonsense_Mutation	SNP	G	TCGA-BJ-A28R-01A-11D-A16O-08	3040573	84118642	6236111	19	544											
C17orf87	388325	broad.mit.edu	37	chr17	5126666	5126666	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacagacacagtacaggatgAggcccagacccacagagaca	10	12	0	4			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr17:5126666A>G	ENST00000574081.1	-	2	211	c.107T>C	c.(106-108)cTc>cCc	p.L36P	RP11-333E1.1_ENST00000575601.1_RNA|SCIMP_ENST00000399600.4_Missense_Mutation_p.L36P|SCIMP_ENST00000574297.1_Missense_Mutation_p.L36P|SCIMP_ENST00000571800.1_Missense_Mutation_p.L36P|RP11-333E1.1_ENST00000573772.1_RNA|RP11-333E1.1_ENST00000571689.1_RNA	NM_001271842.1|NM_207103.3	NP_001258771.1|NP_996986.1	Q6UWF3	SCIMP_HUMAN	SLP adaptor and CSK interacting membrane protein	36					positive regulation of ERK1 and ERK2 cascade (GO:0070374)	immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|membrane (GO:0016020)|tetraspanin-enriched microdomain (GO:0097197)|uropod membrane (GO:0031259)											GTACAGGATGAGGCCCAGACC	0.512																																						ENST00000574081.1																			0											c.(106-108)cTc>cCc		SLP adaptor and CSK interacting membrane protein							323	306	311					17																	5126666		2086	4218	6304	SO:0001583	missense	388325					integral to membrane		g.chr17:5126666A>G	AY358809	CCDS42242.1, CCDS62044.1	17p13.2	2011-11-24	2011-11-23	2011-11-23	ENSG00000161929	ENSG00000161929			33504	protein-coding gene	gene with protein product	"SLP65/SLP76, Csk-interacting membrane protein"	614406	"chromosome 17 open reading frame 87"	C17orf87		21930792	Standard	NM_207103		Approved	DTFT5783, UNQ5783, FLJ32580, MGC163426, MGC163428	uc002gbh.3	Q6UWF3	OTTHUMG00000132914	ENST00000574081.1:c.107T>C	17.37:g.5126666A>G	ENSP00000461269:p.Leu36Pro					RP11-333E1.1_ENST00000571689.1_RNA|SCIMP_ENST00000574297.1_Missense_Mutation_p.L36P|RP11-333E1.1_ENST00000575601.1_RNA|SCIMP_ENST00000571800.1_Missense_Mutation_p.L36P|RP11-333E1.1_ENST00000573772.1_RNA|SCIMP_ENST00000399600.4_Missense_Mutation_p.L36P	p.L36P	NM_001271842.1|NM_207103.3	NP_001258771.1|NP_996986.1	Q6UWF3	CQ087_HUMAN			2	211	-			36					A6XGL4|B4DLK1|Q96MD0	Missense_Mutation	SNP	ENST00000574081.1	37	c.107T>C	CCDS42242.1	.	.	.	.	.	.	.	.	.	.	A	16.91	3.254064	0.59212	.	.	ENSG00000161929	ENST00000399600;ENST00000399592	.	.	.	5.53	4.45	0.53987	.	0.649988	0.14397	N	0.322169	T	0.68393	0.2996	L	0.55481	1.735	0.37220	D	0.905221	D;D;D	0.76494	0.99;0.999;0.99	P;D;D	0.68943	0.875;0.961;0.925	T	0.70605	-0.4826	9	0.87932	D	0	-4.6159	8.5126	0.33226	0.9119:0.0:0.0881:0.0	.	36;36;36	A6XGL4;Q6UWF3-2;Q6UWF3	.;.;CQ087_HUMAN	P	36;25	.	ENSP00000382501:L25P	L	-	2	0	C17orf87	5067390	0.402000	0.25311	0.926000	0.36857	0.900000	0.52787	2.579000	0.46059	1.044000	0.40200	0.533000	0.62120	CTC		0.512	SCIMP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256425.2	NM_207103		5	381	0	0	0	0.001984	0	5	381					G	5126666	A	G	5126666	3	3	19	1	0	0	0	0	1	0	0	0	1889	304	11	3	346	3	C17orf87	17	5126666	Missense_Mutation	SNP	A	TCGA-BJ-A28R-01A-11D-A16O-08		5126666	76068544	20	545											
MEGF6	1953	broad.mit.edu	37	chr1	3427403	3427403	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggcgtagcagccgcactcgTacccgccagggttgttggtg	15	13	0	0			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr1:3427403T>C	ENST00000356575.4	-	10	1404	c.1178A>G	c.(1177-1179)tAc>tGc	p.Y393C	MEGF6_ENST00000294599.4_Missense_Mutation_p.Y288C	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	393	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCCGCACTCGTACCCGCCAGG	0.687																																					Ovarian(73;978 3658)	ENST00000356575.4																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1177-1179)tAc>tGc		multiple EGF-like-domains 6							44	55	51					1																	3427403		2154	4245	6399	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3427403T>C	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"EGF-like-domain, multiple 3"	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.1178A>G	1.37:g.3427403T>C	ENSP00000348982:p.Tyr393Cys					MEGF6_ENST00000294599.4_Missense_Mutation_p.Y288C	p.Y393C	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	10	1404	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	393			EGF-like 7.		Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.1178A>G	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	T	19.95	3.920882	0.73213	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	D;D	0.88664	-2.41;-2.41	4.51	4.51	0.55191	EGF-like calcium-binding, conserved site (1);Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.96018	0.8703	H	0.96547	3.84	0.50313	D	0.999864	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96812	0.9597	10	0.59425	D	0.04	-45.6001	13.478	0.61320	0.0:0.0:0.0:1.0	.	393;288	O75095;O75095-2	MEGF6_HUMAN;.	C	288;393	ENSP00000294599:Y288C;ENSP00000348982:Y393C	ENSP00000294599:Y288C	Y	-	2	0	MEGF6	3417263	1.000000	0.71417	0.985000	0.45067	0.988000	0.76386	4.080000	0.57620	1.655000	0.50712	0.379000	0.24179	TAC		0.687	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		58	79	0	0	0	1	0	58	79					C	3427403	T	C	3427403	3	2	20	1	0	0	0	0	1	0	0	0	9462	1638	57	3	3559	3	MEGF6	1	3427403	Missense_Mutation	SNP	T	TCGA-BJ-A28S-01A-11D-A19J-08		3427403	245823218	1	546											
EIF2C1	26523	broad.mit.edu	37	chr1	36381032	36381032	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcaagagatcattgaagaCttgtcctacatggtgcgtga	12	8	1	4			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr1:36381032C>T	ENST00000373204.4	+	15	2130	c.1917C>T	c.(1915-1917)gaC>gaT	p.D639D	AGO1_ENST00000373206.1_Silent_p.D564D	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	639	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				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)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										TCATTGAAGACTTGTCCTACA	0.547																																						ENST00000373204.4																			0											c.(1915-1917)gaC>gaT		argonaute RISC catalytic component 1							187	149	162					1																	36381032		2203	4300	6503	SO:0001819	synonymous_variant	26523							g.chr1:36381032C>T	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"Argonaute/PIWI family"	3262	protein-coding gene	gene with protein product	"argonaute 1"	606228	"eukaryotic translation initiation factor 2C, 1"	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.1917C>T	1.37:g.36381032C>T						AGO1_ENST00000373206.1_Silent_p.D564D	p.D639D	NM_012199.2	NP_036331.1					15	2130	+								Q5TA57|Q6P4S0	Silent	SNP	ENST00000373204.4	37	c.1917C>T	CCDS398.1																																																																																				0.547	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			20	142	0	0	0	1	0	20	142					T	36381032	C	T	36381032	2	4	20	1	0	0	0	0	0	0	0	1	5005	564	20	2		2	EIF2C1	1	36381032	Silent	SNP	C	TCGA-BJ-A28S-01A-11D-A19J-08	32953629	36381032	212869589	2	547											
RBM6	10180	broad.mit.edu	37	chr3	50004962	50004962	+	Frame_Shift_Del	DEL	T	T	-													ggattatcctcctcctccccTtaagagtcatgctcaagaga							TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr3:50004962delT	ENST00000266022.4	+	3	363	c.104delT	c.(103-105)cttfs	p.L35fs	RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000442092.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	35					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		CCTCCTCCCCTTAAGAGTCAT	0.483																																						ENST00000266022.4																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33						c.(103-105)ctfs		RNA binding motif protein 6							100	105	103					3																	50004962		2203	4300	6503	SO:0001589	frameshift_variant	10180				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr3:50004962delT	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"RNA binding motif (RRM) containing", "G patch domain containing"	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.104delT	3.37:g.50004962delT	ENSP00000266022:p.Leu35fs					RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000441115.1_Intron	p.L35fs	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)	3	363	+			35					O60549|O75524|Q86SS3	Frame_Shift_Del	DEL	ENST00000266022.4	37	c.104delT	CCDS2809.1																																																																																				0.483	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		72	107						72	107	---	---	---	---	-	50004962	T	-	50004962	7	5	20	1	0	1	0	1	0	0	0	0	13144	1609	56	0	110	0	RBM6	3	50004962	Frame_Shift_Del	DEL	T	TCGA-BJ-A28S-01A-11D-A19J-08		50004962	148017468	3	548											
ATR	545	broad.mit.edu	37	chr3	142268455	142268455	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttttcctaaagttcgaatgaGagcagaagctgcagggcttg	12	7	0	2			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr3:142268455G>C	ENST00000350721.4	-	15	3158	c.3037C>G	c.(3037-3039)Ctc>Gtc	p.L1013V	ATR_ENST00000383101.3_Missense_Mutation_p.L949V	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1013					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GTTCGAATGAGAGCAGAAGCT	0.343								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(3037-3039)Ctc>Gtc	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							52	54	53					3																	142268455		2202	4298	6500	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142268455G>C	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.3037C>G	3.37:g.142268455G>C	ENSP00000343741:p.Leu1013Val					ATR_ENST00000383101.3_Missense_Mutation_p.L949V	p.L1013V	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			15	3158	-			1013					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.3037C>G	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689341	0.48097	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.64085	-0.08;-0.08	5.59	4.69	0.59074	Armadillo-like helical (1);Armadillo-type fold (1);	0.139502	0.49305	D	0.000142	T	0.47911	0.1471	N	0.24115	0.695	0.53005	D	0.999962	B	0.19817	0.039	B	0.17433	0.018	T	0.36311	-0.9753	10	0.30854	T	0.27	-5.0346	13.659	0.62354	0.0:0.0:0.8328:0.1672	.	1013	Q13535	ATR_HUMAN	V	1013;949	ENSP00000343741:L1013V;ENSP00000372581:L949V	ENSP00000343741:L1013V	L	-	1	0	ATR	143751145	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.173000	0.71937	1.294000	0.44707	0.655000	0.94253	CTC		0.343	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		27	50	0	0	0	1	0	27	50					C	142268455	G	C	142268455	3	2	20	1	0	0	0	0	1	0	0	0	1204	942	33	4	5029	4	ATR	3	142268455	Missense_Mutation	SNP	G	TCGA-BJ-A28S-01A-11D-A19J-08	92263493	142268455	55753975	4	549											
ANKRD17	26057	broad.mit.edu	37	chr4	74124146	74124146	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgctgctgctggggggtcgGcaagtccggttacgcttggc	17	11	0	0			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr4:74124146G>A	ENST00000358602.4	-	1	356	c.240C>T	c.(238-240)tgC>tgT	p.C80C	RP11-692D12.1_ENST00000502790.1_RNA|ANKRD17_ENST00000330838.6_Silent_p.C80C	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	80					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGGGGGGTCGGCAAGTCCGGT	0.692																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(238-240)tgC>tgT		ankyrin repeat domain 17							31	30	30					4																	74124146		2202	4300	6502	SO:0001819	synonymous_variant	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:74124146G>A	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.240C>T	4.37:g.74124146G>A						ANKRD17_ENST00000330838.6_Silent_p.C80C	p.C80C	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		1	356	-	Breast(15;0.000295)		80					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Silent	SNP	ENST00000358602.4	37	c.240C>T	CCDS34004.1																																																																																				0.692	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		3	42	0	0	0	1	0	3	42					A	74124146	G	A	74124146	2	1	20	1	0	0	0	0	0	0	0	1	646	1195	42	2		2	ANKRD17	4	74124146	Silent	SNP	G	TCGA-BJ-A28S-01A-11D-A19J-08		74124146	117030130	5	550											
TNXB	7148	broad.mit.edu	37	chr6	32021216	32021216	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgctggccaccgtggaagcCgtacaggttcatcttgtact	12	12	2	0	rs200708257	byFrequency	TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr6:32021216C>A	ENST00000375244.3	-	25	8941	c.8740G>T	c.(8740-8742)Ggc>Tgc	p.G2914C	TNXB_ENST00000375247.2_Missense_Mutation_p.G2912C			P22105	TENX_HUMAN	tenascin XB	2961	Fibronectin type-III 21. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCGTGGAAGCCGTACAGGTTC	0.657																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(8740-8742)Ggc>Tgc		tenascin XB							48	50	49					6																	32021216		1244	2559	3803	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32021216C>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.8740G>T	6.37:g.32021216C>A	ENSP00000364393:p.Gly2914Cys					TNXB_ENST00000375247.2_Missense_Mutation_p.G2912C	p.G2914C			P22105	TENX_HUMAN			25	8941	-			2961			Fibronectin type-III 21.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.8740G>T		.	.	.	.	.	.	.	.	.	.	c	19.54	3.847474	0.71603	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.57595	0.39;0.39	4.39	4.39	0.52855	.	.	.	.	.	T	0.75810	0.3900	H	0.95816	3.725	0.37252	D	0.906608	D	0.89917	1.0	D	0.97110	1.0	D	0.84426	0.0574	9	0.87932	D	0	.	13.8893	0.63729	0.0:1.0:0.0:0.0	.	2912	P22105-3	.	C	2914;2912	ENSP00000364393:G2914C;ENSP00000364396:G2912C	ENSP00000364393:G2914C	G	-	1	0	TNXB	32129194	0.961000	0.32948	0.989000	0.46669	0.827000	0.46813	5.079000	0.64431	1.989000	0.58080	0.543000	0.68304	GGC		0.657	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		4	97	1	0	0.00909568	1	0.00946948	4	97					A	32021216	C	A	32021216	3	1	20	1	0	0	0	0	1	0	0	0	16343	652	23	4	6059	4	TNXB	6	32021216	Missense_Mutation	SNP	C	TCGA-BJ-A28S-01A-11D-A19J-08		32021216	139093851	6	551											
LAMA4	3910	broad.mit.edu	37	chr6	112479970	112479970	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcttgttgaaggtcctgtGcatggtcaatagcttcttgg	11	8	3	1			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr6:112479970G>T	ENST00000230538.7	-	14	2178	c.1781C>A	c.(1780-1782)gCa>gAa	p.A594E	RP1-142L7.5_ENST00000425503.1_RNA|LAMA4_ENST00000424408.2_Missense_Mutation_p.A587E|LAMA4_ENST00000389463.4_Missense_Mutation_p.A587E|LAMA4_ENST00000522006.1_Missense_Mutation_p.A587E|RP1-142L7.5_ENST00000585373.1_RNA	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	594	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AAGGTCCTGTGCATGGTCAAT	0.343																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(1780-1782)gCa>gAa		laminin, alpha 4							203	184	190					6																	112479970		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112479970G>T		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1781C>A	6.37:g.112479970G>T	ENSP00000230538:p.Ala594Glu					RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000424408.2_Missense_Mutation_p.A587E|LAMA4_ENST00000522006.1_Missense_Mutation_p.A587E|LAMA4_ENST00000389463.4_Missense_Mutation_p.A587E	p.A594E	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	14	2178	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	594			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.1781C>A	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358164	0.82243	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.56444	0.5;0.46;0.46;0.46	5.68	5.68	0.88126	.	0.096863	0.64402	D	0.000001	T	0.54759	0.1878	L	0.59436	1.845	0.80722	D	1	P;D	0.53462	0.933;0.96	P;P	0.52856	0.518;0.711	T	0.59418	-0.7458	10	0.87932	D	0	.	16.695	0.85333	0.0:0.0:1.0:0.0	.	594;587	Q16363;Q16363-2	LAMA4_HUMAN;.	E	594;587;587;587	ENSP00000230538:A594E;ENSP00000429488:A587E;ENSP00000374114:A587E;ENSP00000416470:A587E	ENSP00000230538:A594E	A	-	2	0	LAMA4	112586663	1.000000	0.71417	0.958000	0.39756	0.709000	0.40893	5.650000	0.67944	2.668000	0.90789	0.591000	0.81541	GCA		0.343	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		45	74	1	0	1.57945e-13	1	1.79162e-13	45	74					T	112479970	G	T	112479970	3	4	20	1	0	0	0	0	1	0	0	0	8608	1319	46	4	3794	4	LAMA4	6	112479970	Missense_Mutation	SNP	G	TCGA-BJ-A28S-01A-11D-A19J-08	80458754	112479970	58635097	7	552											
SP4	6671	broad.mit.edu	37	chr7	21469309	21469309	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cacaacttcagacagtggaaGgtcaacaaattcaaatcaat	6	9	4	1			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr7:21469309G>C	ENST00000222584.3	+	3	744	c.526G>C	c.(526-528)Ggt>Cgt	p.G176R		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	176					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GACAGTGGAAGGTCAACAAAT	0.388																																						ENST00000222584.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(526-528)Ggt>Cgt		Sp4 transcription factor							77	74	75					7																	21469309		2203	4300	6503	SO:0001583	missense	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21469309G>C		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.526G>C	7.37:g.21469309G>C	ENSP00000222584:p.Gly176Arg						p.G176R	NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN			3	744	+			176					O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	c.526G>C	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324825	0.60634	.	.	ENSG00000105866	ENST00000222584	T	0.28069	1.63	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.57417	0.2052	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.63853	-0.6543	10	0.59425	D	0.04	.	16.8705	0.86039	0.0:0.0:1.0:0.0	.	176	Q02446	SP4_HUMAN	R	176	ENSP00000222584:G176R	ENSP00000222584:G176R	G	+	1	0	SP4	21435834	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.243000	0.72384	2.197000	0.70478	0.655000	0.94253	GGT		0.388	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		6	110	0	0	0	1	0	6	110					C	21469309	G	C	21469309	3	2	20	1	0	0	0	0	1	0	0	0	14966	1000	35	4	536	4	SP4	7	21469309	Missense_Mutation	SNP	G	TCGA-BJ-A28S-01A-11D-A19J-08		21469309	137669354	8	553											
RABGEF1	27342	broad.mit.edu	37	chr7	66262494	66262494	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccattcaaaagagaatcagGtagttgcttattttgttttg	9	5	2	1			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr7:66262494G>A	ENST00000284957.5	+	6	805		c.e6+1		KCTD7_ENST00000451741.2_Splice_Site|RABGEF1_ENST00000439720.2_Splice_Site|RABGEF1_ENST00000450873.2_Splice_Site|KCTD7_ENST00000380828.2_Splice_Site|KCTD7_ENST00000510829.2_Splice_Site|RABGEF1_ENST00000484547.2_Splice_Site|RABGEF1_ENST00000437078.2_Splice_Site			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1						endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						AGAGAATCAGGTAGTTGCTTA	0.363																																						ENST00000380828.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						c.e8+1		potassium channel tetramerization domain containing 7							59	56	57					7																	66262494		2203	4300	6503	SO:0001630	splice_region_variant	154881					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr7:66262494G>A	AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.728+1G>A	7.37:g.66262494G>A						RABGEF1_ENST00000439720.2_Splice_Site|RABGEF1_ENST00000484547.2_Splice_Site|RABGEF1_ENST00000284957.5_Splice_Site|RABGEF1_ENST00000437078.2_Splice_Site|KCTD7_ENST00000510829.2_Splice_Site|KCTD7_ENST00000451741.2_Splice_Site|RABGEF1_ENST00000450873.2_Splice_Site				Q96MP8	KCTD7_HUMAN			8	1002	+								B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Splice_Site	SNP	ENST00000284957.5	37		CCDS5535.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013187	0.75161	.	.	ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000154710;ENSG00000154710;ENSG00000154710;ENSG00000154710	ENST00000380827;ENST00000380828;ENST00000510829;ENST00000451741;ENST00000539561;ENST00000284957;ENST00000450873;ENST00000439720;ENST00000437078	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7712	0.88493	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RABGEF1;KCTD7	65899929	1.000000	0.71417	0.998000	0.56505	0.894000	0.52154	9.386000	0.97228	2.494000	0.84150	0.551000	0.68910	.		0.363	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3	NM_014504	Intron	4	85	0	0	0	1	0	4	85					A	66262494	G	A	66262494	5	1	20	1	0	0	0	0	0	0	1	0	12966	1275	44	2	747	2	RABGEF1	7	66262494	Splice_Site	SNP	G	TCGA-BJ-A28S-01A-11D-A19J-08	44793185	66262494	92876169	9	554											
C8orf34	116328	broad.mit.edu	37	chr8	69434071	69434071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttctcttctgaggccccGtgtgattggagaatggattg	12	8	3	3			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr8:69434071G>A	ENST00000539993.1	+	6	1094	c.545G>A	c.(544-546)cGt>cAt	p.R182H	C8orf34_ENST00000337103.4_Missense_Mutation_p.R157H|C8orf34_ENST00000518698.1_Missense_Mutation_p.R268H|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000348340.2_Missense_Mutation_p.R182H			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	182								p.R157H(1)|p.R182H(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CTGAGGCCCCGTGTGATTGGA	0.413																																						ENST00000337103.4																			2	Substitution - Missense(2)	p.R157H(1)|p.R182H(1)	endometrium(2)	NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(469-471)cGt>cAt		chromosome 8 open reading frame 34							87	84	85					8																	69434071		2203	4300	6503	SO:0001583	missense	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69434071G>A	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"vestibule 1"						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.545G>A	8.37:g.69434071G>A	ENSP00000438159:p.Arg182His					C8orf34_ENST00000518698.1_Missense_Mutation_p.R268H|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000348340.2_Missense_Mutation_p.R182H|C8orf34_ENST00000539993.1_Missense_Mutation_p.R182H	p.R157H			Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		5	2062	+			182					A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	ENST00000539993.1	37	c.470G>A		.	.	.	.	.	.	.	.	.	.	G	31	5.072284	0.93950	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000348340;ENST00000337103	T;T;T	0.51817	0.69;0.73;0.71	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.66896	0.2836	L	0.57536	1.79	0.45867	D	0.998728	D;D	0.89917	1.0;1.0	D;D	0.83275	0.938;0.996	T	0.63418	-0.6642	9	.	.	.	-11.9929	19.6482	0.95790	0.0:0.0:1.0:0.0	.	182;182	Q49A92;Q49A92-3	CH034_HUMAN;.	H	268;182;182;157	ENSP00000427820:R268H;ENSP00000438159:R182H;ENSP00000337174:R157H	.	R	+	2	0	C8orf34	69596625	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.365000	0.90108	2.696000	0.92011	0.655000	0.94253	CGT		0.413	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958		28	44	0	0	0	1	0	28	44					A	69434071	G	A	69434071	3	1	20	1	0	0	0	0	1	0	0	0	2422	1145	40	1	488	1	C8orf34	8	69434071	Missense_Mutation	SNP	G	TCGA-BJ-A28S-01A-11D-A19J-08		69434071	76929951	10	555											
GALNT12	79695	broad.mit.edu	37	chr9	101589093	101589093	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcccaaggtgcgcctgatcCgcgccaacaagagagagggc	14	13	0	3	rs372616005		TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr9:101589093C>A	ENST00000375011.3	+	3	601	c.601C>A	c.(601-603)Cgc>Agc	p.R201S		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	201	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				GCGCCTGATCCGCGCCAACAA	0.627																																						ENST00000375011.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(601-603)Cgc>Agc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)							39	37	37					9																	101589093		2203	4299	6502	SO:0001583	missense	79695					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr9:101589093C>A	AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19877	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 12"	610290	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.601C>A	9.37:g.101589093C>A	ENSP00000364150:p.Arg201Ser						p.R201S	NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN			3	601	+		Acute lymphoblastic leukemia(62;0.0559)	201			Catalytic subdomain A.		Q5TCF7|Q8NG54|Q96CT9|Q9H771	Missense_Mutation	SNP	ENST00000375011.3	37	c.601C>A	CCDS6737.1	.	.	.	.	.	.	.	.	.	.	C	36	5.667262	0.96745	.	.	ENSG00000119514	ENST00000375011	T	0.64260	-0.09	5.96	5.96	0.96718	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.79364	0.4433	M	0.84433	2.695	0.80722	D	1	D	0.63046	0.992	P	0.57846	0.828	T	0.82131	-0.0609	10	0.87932	D	0	.	17.902	0.88907	0.0:1.0:0.0:0.0	.	201	Q8IXK2	GLT12_HUMAN	S	201	ENSP00000364150:R201S	ENSP00000364150:R201S	R	+	1	0	GALNT12	100628914	1.000000	0.71417	0.999000	0.59377	0.845000	0.48019	5.942000	0.70203	2.814000	0.96858	0.655000	0.94253	CGC		0.627	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053382.1	NM_024642		3	40	1	0	1	1	1	3	40					A	101589093	C	A	101589093	3	1	20	1	0	0	0	0	1	0	0	0	6210	652	23	4	611	4	GALNT12	9	101589093	Missense_Mutation	SNP	C	TCGA-BJ-A28S-01A-11D-A19J-08		101589093	39624338	11	556											
SVIL	6840	broad.mit.edu	37	chr10	29773738	29773738	+	Frame_Shift_Del	DEL	C	C	-													catgccatacgtaaacttcaCtaccaaaatcaaacaccagt							TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr10:29773738delC	ENST00000355867.4	-	27	5554	c.4802delG	c.(4801-4803)agtfs	p.S1601fs	SVIL_ENST00000538146.1_Frame_Shift_Del_p.S393fs|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000535393.1_Frame_Shift_Del_p.S515fs|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000375398.2_Frame_Shift_Del_p.S1601fs|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000375400.3_Frame_Shift_Del_p.S1175fs	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1601	Interaction with NEB.				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)				GTAAACTTCACTACCAAAATC	0.403																																						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.(4801-4803)atfs		supervillin							104	91	95					10																	29773738		2203	4300	6503	SO:0001589	frameshift_variant	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29773738delC	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.4802delG	10.37:g.29773738delC	ENSP00000348128:p.Ser1601fs					SVIL_ENST00000375400.3_Frame_Shift_Del_p.S1175fs|SVIL_ENST00000535393.1_Frame_Shift_Del_p.S515fs|SVIL_ENST00000355867.4_Frame_Shift_Del_p.S1601fs|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000538146.1_Frame_Shift_Del_p.S393fs	p.S1601fs			O95425	SVIL_HUMAN			29	5251	-		Breast(68;0.103)	1601			Interaction with NEB.		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Frame_Shift_Del	DEL	ENST00000355867.4	37	c.4802delG	CCDS7164.1																																																																																				0.403	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			37	62						37	62	---	---	---	---	-	29773738	C	-	29773738	7	5	20	1	0	1	0	1	0	0	0	0	15418	565	20	0	1890	0	SVIL	10	29773738	Frame_Shift_Del	DEL	C	TCGA-BJ-A28S-01A-11D-A19J-08		29773738	105761009	12	557											
MYOF	26509	broad.mit.edu	37	chr10	95121253	95121253	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcataagaccatgcatcaTcttcccattcccaacctgga	5	14	3	1			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr10:95121253T>C	ENST00000359263.4	-	28	2929	c.2930A>G	c.(2929-2931)gAt>gGt	p.D977G	MYOF_ENST00000371501.4_Missense_Mutation_p.D977G|MYOF_ENST00000358334.5_Missense_Mutation_p.D964G|MYOF_ENST00000371502.4_Missense_Mutation_p.D977G	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	977					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						CCATGCATCATCTTCCCATTC	0.458																																						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.(2929-2931)gAt>gGt		myoferlin							207	204	205					10																	95121253		2011	4190	6201	SO:0001583	missense	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95121253T>C	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.2930A>G	10.37:g.95121253T>C	ENSP00000352208:p.Asp977Gly					MYOF_ENST00000359263.4_Missense_Mutation_p.D977G|MYOF_ENST00000371502.4_Missense_Mutation_p.D977G|MYOF_ENST00000358334.5_Missense_Mutation_p.D964G	p.D977G			Q9NZM1	MYOF_HUMAN			28	3052	-			977					B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	c.2930A>G	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.111814	0.77210	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.83250	-1.7;-1.69;-1.69;-1.69	5.81	5.81	0.92471	Ferlin/Peroxisome membrane (1);	0.000000	0.85682	D	0.000000	D	0.88160	0.6362	L	0.45698	1.435	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.997;0.999	D	0.87031	0.2135	10	0.36615	T	0.2	-24.3735	16.1773	0.81862	0.0:0.0:0.0:1.0	.	964;977	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	G	964;977;977;977	ENSP00000351094:D964G;ENSP00000352208:D977G;ENSP00000360556:D977G;ENSP00000360557:D977G	ENSP00000351094:D964G	D	-	2	0	MYOF	95111243	1.000000	0.71417	0.991000	0.47740	0.552000	0.35366	7.683000	0.84093	2.217000	0.71921	0.482000	0.46254	GAT		0.458	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		73	107	0	0	0	1	0	73	107					C	95121253	T	C	95121253	3	2	20	1	0	0	0	0	1	0	0	0	10089	1435	50	3	3363	3	MYOF	10	95121253	Missense_Mutation	SNP	T	TCGA-BJ-A28S-01A-11D-A19J-08	65347515	95121253	40413494	13	558											
CCKBR	887	broad.mit.edu	37	chr11	6292023	6292023	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagggtccgaaaccaaggCgggctgccaggtggggctgg	19	10	0	0			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr11:6292023C>T	ENST00000334619.2	+	4	994	c.801C>T	c.(799-801)ggC>ggT	p.G267G	CCKBR_ENST00000532715.1_Silent_p.G183G|CCKBR_ENST00000532396.1_3'UTR|CCKBR_ENST00000525462.1_Silent_p.G267G	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	267					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GAAACCAAGGCGGGCTGCCAG	0.632																																						ENST00000525462.1																			0				NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(799-801)ggC>ggT		cholecystokinin B receptor	Pentagastrin(DB00183)						48	46	46					11																	6292023		2201	4296	6497	SO:0001819	synonymous_variant	887				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	g.chr11:6292023C>T	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"GPCR / Class A : Cholecystokinin receptors"	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.801C>T	11.37:g.6292023C>T						CCKBR_ENST00000532396.1_3'UTR|CCKBR_ENST00000532715.1_Silent_p.G183G|CCKBR_ENST00000334619.2_Silent_p.G267G	p.G267G			P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	4	804	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	218					A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Silent	SNP	ENST00000334619.2	37	c.801C>T	CCDS7761.1																																																																																				0.632	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		5	73	0	0	0	1	0	5	73					T	6292023	C	T	6292023	2	4	20	1	0	0	0	0	0	0	0	1	2881	755	27	1		1	CCKBR	11	6292023	Silent	SNP	C	TCGA-BJ-A28S-01A-11D-A19J-08		6292023	128714493	14	559											
FADS1	3992	broad.mit.edu	37	chr11	61570928	61570928	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaaaccagttgctttccagGaacctgttagatgtattaca	7	9	0	1			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr11:61570928G>A	ENST00000350997.7	-	9	1387	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F	FADS1_ENST00000542506.1_Silent_p.F244F|FADS1_ENST00000460649.1_Silent_p.F30F|FADS1_ENST00000433932.1_Silent_p.F244F|FADS1_ENST00000536991.1_Silent_p.F76F|FADS2_ENST00000574708.1_Intron	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN	fatty acid desaturase 1	328					alpha-linolenic acid metabolic process (GO:0036109)|cell-cell signaling (GO:0007267)|cellular lipid metabolic process (GO:0044255)|cellular response to starvation (GO:0009267)|icosanoid biosynthetic process (GO:0046456)|linoleic acid metabolic process (GO:0043651)|phospholipid biosynthetic process (GO:0008654)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|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 membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	C-5 sterol desaturase activity (GO:0000248)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TGCTTTCCAGGAACCTGTTAG	0.478																																						ENST00000350997.7																			0				central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4						c.(1153-1155)ttC>ttT		fatty acid desaturase 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						185	182	183					11																	61570928		1963	4191	6154	SO:0001819	synonymous_variant	3992				cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport	endoplasmic reticulum membrane|integral to membrane|microsome	C-5 sterol desaturase activity|heme binding|protein binding	g.chr11:61570928G>A		CCDS8011.2	11q12-q13.1	2013-01-25			ENSG00000149485	ENSG00000149485	1.14.19.3	"Fatty acid desaturases"	3574	protein-coding gene	gene with protein product	"delta-5 desaturase"	606148		LLCDL1			Standard	NM_013402		Approved	D5D, FADSD5, TU12, FADS6	uc010rlm.2	O60427	OTTHUMG00000157155	ENST00000350997.7:c.1155C>T	11.37:g.61570928G>A						FADS1_ENST00000542506.1_Silent_p.F244F|FADS1_ENST00000433932.1_Silent_p.F244F|FADS1_ENST00000460649.1_Silent_p.F30F|FADS2_ENST00000574708.1_Intron|FADS1_ENST00000536991.1_Silent_p.F76F	p.F385F	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN			9	1387	-			328					A8K0I7|B2RAI0|Q53GM5|Q8N3A6|Q8NCC7|Q8NCG0|Q96I39|Q96SV3|Q96T10|Q9NRP8|Q9NYX1	Silent	SNP	ENST00000350997.7	37	c.1155C>T	CCDS8011.2																																																																																				0.478	FADS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347648.2	NM_013402		10	316	0	0	0	1	0	10	316					A	61570928	G	A	61570928	2	1	20	1	0	0	0	0	0	0	0	1	5365	1165	41	2		2	FADS1	11	61570928	Silent	SNP	G	TCGA-BJ-A28S-01A-11D-A19J-08	55278905	61570928	73435588	15	560											
ITPR2	3709	broad.mit.edu	37	chr12	26784809	26784809	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggcaacacacctgcaaaatcTcaatgatcttcagcttggtg	8	11	3	1	rs187811112	byFrequency	TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr12:26784809T>A	ENST00000381340.3	-	22	3340	c.2924A>T	c.(2923-2925)gAg>gTg	p.E975V	ITPR2_ENST00000545902.1_5'Flank|RP11-666F17.1_ENST00000414098.2_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	975					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CTGCAAAATCTCAATGATCTT	0.473																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(2923-2925)gAg>gTg		inositol 1,4,5-trisphosphate receptor, type 2							103	109	107					12																	26784809		2059	4193	6252	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26784809T>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.2924A>T	12.37:g.26784809T>A	ENSP00000370744:p.Glu975Val					RP11-666F17.1_ENST00000414098.2_RNA	p.E975V	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			22	3340	-	Colorectal(261;0.0847)		975					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.2924A>T	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.762721	0.89932	.	.	ENSG00000123104	ENST00000381340	D	0.95447	-3.71	5.07	5.07	0.68467	.	0.098343	0.64402	D	0.000002	D	0.96830	0.8965	M	0.87180	2.865	0.80722	D	1	P	0.44521	0.837	P	0.49999	0.628	D	0.97216	0.9874	10	0.56958	D	0.05	.	14.9902	0.71381	0.0:0.0:0.0:1.0	.	975	Q14571	ITPR2_HUMAN	V	975	ENSP00000370744:E975V	ENSP00000370744:E975V	E	-	2	0	ITPR2	26676076	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.314000	0.78988	2.139000	0.66308	0.533000	0.62120	GAG		0.473	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		6	150	0	0	0	1	0	6	150					A	26784809	T	A	26784809	3	1	20	1	0	0	0	0	1	0	0	0	7921	1551	54	5	5325	5	ITPR2	12	26784809	Missense_Mutation	SNP	T	TCGA-BJ-A28S-01A-11D-A19J-08		26784809	107067086	16	561											
ESPL1	9700	broad.mit.edu	37	chr12	53670431	53670431	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgagacagcctcagtggctgGgacccggagaccctggccct	14	15	1	2			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr12:53670431G>T	ENST00000257934.4	+	8	1819	c.1728G>T	c.(1726-1728)tgG>tgT	p.W576C	ESPL1_ENST00000552462.1_Missense_Mutation_p.W576C	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	576					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TCAGTGGCTGGGACCCGGAGA	0.632																																					Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(1726-1728)tgG>tgT		extra spindle pole bodies homolog 1 (S. cerevisiae)							18	18	18					12																	53670431		2198	4287	6485	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53670431G>T	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.1728G>T	12.37:g.53670431G>T	ENSP00000257934:p.Trp576Cys					ESPL1_ENST00000552462.1_Missense_Mutation_p.W576C	p.W576C	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN			8	1819	+			576						Missense_Mutation	SNP	ENST00000257934.4	37	c.1728G>T	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705563	0.48412	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.12465	2.68;2.68	5.39	5.39	0.77823	.	0.244102	0.40385	N	0.001108	T	0.30262	0.0759	M	0.68317	2.08	0.45477	D	0.998448	D	0.76494	0.999	P	0.58820	0.846	T	0.00277	-1.1854	10	0.39692	T	0.17	.	14.2893	0.66265	0.0:0.1498:0.8502:0.0	.	576	Q14674	ESPL1_HUMAN	C	576;251;576	ENSP00000257934:W576C;ENSP00000449831:W576C	ENSP00000257934:W576C	W	+	3	0	ESPL1	51956698	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	1.466000	0.35310	2.808000	0.96608	0.655000	0.94253	TGG		0.632	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		17	29	1	0	4.75885e-15	1	5.47989e-15	17	29					T	53670431	G	T	53670431	3	4	20	1	0	0	0	0	1	0	0	0	5253	1241	43	4	1754	4	ESPL1	12	53670431	Missense_Mutation	SNP	G	TCGA-BJ-A28S-01A-11D-A19J-08	26885622	53670431	80181464	17	562											
KSR2	283455	broad.mit.edu	37	chr12	117922266	117922266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgaagagtccaaagtccGtgatgaccactttgccgttg	11	10	0	4	rs563602140		TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr12:117922266G>A	ENST00000339824.5	-	16	3132	c.2405C>T	c.(2404-2406)aCg>aTg	p.T802M	KSR2_ENST00000302438.5_3'UTR|KSR2_ENST00000425217.1_Missense_Mutation_p.T773M			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	802	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.T834M(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCAAAGTCCGTGATGACCAC	0.542													G|||	1	0.000199681	8e-04	0	5008	,	,		19917	0		0	False		,,,				2504	0					ENST00000425217.1																			1	Substitution - Missense(1)	p.T834M(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(2317-2319)aCg>aTg		kinase suppressor of ras 2							96	99	98					12																	117922266		2020	4190	6210	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117922266G>A	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.2405C>T	12.37:g.117922266G>A	ENSP00000339952:p.Thr802Met					KSR2_ENST00000339824.5_Missense_Mutation_p.T802M|KSR2_ENST00000302438.5_3'UTR	p.T773M	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			16	2372	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		802			Protein kinase.		A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.2318C>T		.	.	.	.	.	.	.	.	.	.	G	29.4	5.000619	0.93227	.	.	ENSG00000171435	ENST00000425217;ENST00000339824	D;D	0.83419	-1.72;-1.72	5.55	5.55	0.83447	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91314	0.7261	M	0.76727	2.345	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91727	0.5393	10	0.72032	D	0.01	.	19.5084	0.95130	0.0:0.0:1.0:0.0	.	802	Q6VAB6	KSR2_HUMAN	M	773;802	ENSP00000389715:T773M;ENSP00000339952:T802M	ENSP00000339952:T802M	T	-	2	0	KSR2	116406649	1.000000	0.71417	0.965000	0.40720	0.948000	0.59901	9.837000	0.99465	2.612000	0.88384	0.655000	0.94253	ACG		0.542	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		7	60	0	0	0	1	0	7	60					A	117922266	G	A	117922266	3	1	20	1	0	0	0	0	1	0	0	0	8582	1145	40	1	467	1	KSR2	12	117922266	Missense_Mutation	SNP	G	TCGA-BJ-A28S-01A-11D-A19J-08	64251835	117922266	15929629	18	563											
NDFIP2	54602	broad.mit.edu	37	chr13	80107511	80107511	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cacctccctatagcgttgctAcctctcttcctacatacgat	4	16	1	0			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr13:80107511A>T	ENST00000218652.7	+	3	593	c.541A>T	c.(541-543)Acc>Tcc	p.T181S		NM_001161407.1|NM_019080.2	NP_001154879.1|NP_061953.2	Q9NV92	NFIP2_HUMAN	Nedd4 family interacting protein 2	181					negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of transporter activity (GO:0032410)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			NS(1)|breast(1)|endometrium(2)|kidney(3)|lung(3)|ovary(2)|prostate(1)|skin(1)	14		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0196)		TAGCGTTGCTACCTCTCTTCC	0.383																																						ENST00000218652.7																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|lung(3)|ovary(2)|prostate(1)|skin(1)	14						c.(541-543)Acc>Tcc		Nedd4 family interacting protein 2							72	68	69					13																	80107511		2203	4300	6503	SO:0001583	missense	54602				negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endoplasmic reticulum|Golgi membrane|integral to membrane|mitochondrion|multivesicular body membrane|perinuclear region of cytoplasm	signal transducer activity|WW domain binding	g.chr13:80107511A>T	AB032991	CCDS31998.1	13q22.1	2011-05-18			ENSG00000102471	ENSG00000102471			18537	protein-coding gene	gene with protein product		610041				10574461, 12050153	Standard	NM_019080		Approved	KIAA1165, N4wbp5a	uc001vlf.3	Q9NV92	OTTHUMG00000017136	ENST00000218652.7:c.541A>T	13.37:g.80107511A>T	ENSP00000218652:p.Thr181Ser						p.T181S	NM_001161407.1|NM_019080.2	NP_001154879.1|NP_061953.2	Q9NV92	NFIP2_HUMAN		GBM - Glioblastoma multiforme(99;0.0196)	3	593	+		Acute lymphoblastic leukemia(28;0.205)	181					Q7Z2H3|Q7Z428|Q8TAR3|Q9ULQ5	Missense_Mutation	SNP	ENST00000218652.7	37	c.541A>T	CCDS31998.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.924241	0.92319	.	.	ENSG00000102471	ENST00000218652;ENST00000487865	T;T	0.39406	1.25;1.08	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.56645	0.1999	M	0.72894	2.215	0.58432	D	0.999999	P;P	0.52692	0.955;0.923	P;P	0.54544	0.755;0.755	T	0.57871	-0.7736	10	0.42905	T	0.14	-11.0901	14.5939	0.68392	1.0:0.0:0.0:0.0	.	87;181	B4DGY6;Q9NV92	.;NFIP2_HUMAN	S	181;98	ENSP00000218652:T181S;ENSP00000419200:T98S	ENSP00000218652:T181S	T	+	1	0	NDFIP2	79005512	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.334000	0.90028	2.101000	0.63845	0.477000	0.44152	ACC		0.383	NDFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045380.2			35	58	0	0	0	1	0	35	58					T	80107511	A	T	80107511	3	4	20	1	0	0	0	0	1	0	0	0	10246	391	14	5	551	5	NDFIP2	13	80107511	Missense_Mutation	SNP	A	TCGA-BJ-A28S-01A-11D-A19J-08		80107511	35062367	19	564											
MSLNL	401827	broad.mit.edu	37	chr16	824957	824957	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcggcaccgatgctggacgCgtccatgtcacacaccaggg	13	14	1	0	rs369732940		TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr16:824957C>T	ENST00000442466.1	-	6	561	c.562G>A	c.(562-564)Gcg>Acg	p.A188T	MSLNL_ENST00000293892.3_Missense_Mutation_p.A539T			Q96KJ4	MSLNL_HUMAN	mesothelin-like	188					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						ATGCTGGACGCGTCCATGTCA	0.716																																						ENST00000293892.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						c.(1615-1617)Gcg>Acg		mesothelin-like			THR/ALA	0,4124		0,0,2062	21	24	23		1615	2.0	0.3	16		23	1,8337		0,1,4168	no	missense	MSLNL	NM_001025190.1	58	0,1,6230	TT,TC,CC		0.012,0.0,0.0080	possibly-damaging	539/1054	824957	1,12461	2062	4169	6231	SO:0001583	missense	401827				cell adhesion	integral to membrane		g.chr16:824957C>T			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 37"	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.562G>A	16.37:g.824957C>T	ENSP00000415767:p.Ala188Thr					MSLNL_ENST00000442466.1_Missense_Mutation_p.A188T	p.A539T			Q96KJ4	MSLNL_HUMAN			7	1614	-			188						Missense_Mutation	SNP	ENST00000442466.1	37	c.1615G>A		.	.	.	.	.	.	.	.	.	.	c	13.61	2.287377	0.40494	0.0	1.2E-4	ENSG00000162006	ENST00000543963;ENST00000442466;ENST00000293892	T;T;T	0.11495	2.77;2.77;2.77	4.1	1.95	0.26073	.	0.416661	0.22018	N	0.065766	T	0.12689	0.0308	.	.	.	0.21579	N	0.999639	P	0.44521	0.837	P	0.45037	0.467	T	0.08046	-1.0741	9	0.51188	T	0.08	-14.1409	10.8934	0.47008	0.0:0.4533:0.5466:0.0	.	188	Q96KJ4	MSLNL_HUMAN	T	238;188;539	ENSP00000441381:A238T;ENSP00000415767:A188T;ENSP00000293892:A539T	ENSP00000293892:A539T	A	-	1	0	MSLNL	764958	0.004000	0.15560	0.268000	0.24571	0.209000	0.24338	0.638000	0.24674	0.908000	0.36671	-0.342000	0.07992	GCG		0.716	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		18	91	0	0	0	1	0	18	91					T	824957	C	T	824957	3	4	20	1	0	0	0	0	1	0	0	0	9882	768	27	1	1586	1	MSLNL	16	824957	Missense_Mutation	SNP	C	TCGA-BJ-A28S-01A-11D-A19J-08		824957	89529796	20	565											
ZNF624	57547	broad.mit.edu	37	chr17	16525630	16525630	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actgagtttctctttgatgtAttctttgatgtacagtaagg	9	5	2	3			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr17:16525630A>T	ENST00000311331.7	-	6	2661	c.2570T>A	c.(2569-2571)aTa>aAa	p.I857K		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	857					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TCTTTGATGTATTCTTTGATG	0.328																																					NSCLC(186;1023 2134 13330 38202 39800)	ENST00000311331.7																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26						c.(2569-2571)aTa>aAa		zinc finger protein 624							117	120	119					17																	16525630		2203	4300	6503	SO:0001583	missense	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16525630A>T	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"Zinc fingers, C2H2-type", "-"	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.2570T>A	17.37:g.16525630A>T	ENSP00000310472:p.Ile857Lys						p.I857K	NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	6	2661	-			857					Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	37	c.2570T>A	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	A	7.388	0.630208	0.14257	.	.	ENSG00000197566	ENST00000311331	T	0.09073	3.02	3.21	0.972	0.19704	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09113	0.0225	L	0.58510	1.815	0.34717	D	0.728311	B	0.23058	0.079	B	0.21546	0.035	T	0.07252	-1.0782	9	0.62326	D	0.03	.	6.4242	0.21760	0.774:0.0:0.226:0.0	.	857	Q9P2J8	ZN624_HUMAN	K	857	ENSP00000310472:I857K	ENSP00000310472:I857K	I	-	2	0	ZNF624	16466355	0.000000	0.05858	0.969000	0.41365	0.697000	0.40408	0.233000	0.17911	0.162000	0.19483	0.460000	0.39030	ATA		0.328	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3	XM_047617		89	114	0	0	0	1	0	89	114					T	16525630	A	T	16525630	3	4	20	1	0	0	0	0	1	0	0	0	18045	449	16	5	31	5	ZNF624	17	16525630	Missense_Mutation	SNP	A	TCGA-BJ-A28S-01A-11D-A19J-08		16525630	64669580	21	566											
IL28B	282617	broad.mit.edu	37	chr19	39735525	39735525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcatccgggagagccccgCggagcctggcgacaggaact	15	13	0	1	rs629976	byFrequency	TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr19:39735525C>T	ENST00000413851.2	-	1	121	c.83G>A	c.(82-84)cGc>cAc	p.R28H	IFNL4_ENST00000606380.1_RNA	NM_172139.2	NP_742151.2	Q8IZI9	IFNL3_HUMAN	interferon, lambda 3	28			R -> H (in dbSNP:rs629976).		defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of viral genome replication (GO:0045071)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											GAGAGCCCCGCGGAGCCTGGC	0.612													C|||	4	0.000798722	0.0015	0.0014	5008	,	,		20143	0.001		0	False		,,,				2504	0					ENST00000413851.2																			0											c.(82-84)cGc>cAc		interferon, lambda 3		C	HIS/ARG	4,4402	6.2+/-15.9	0,4,2199	61	57	58		83	-6.0	0.0	19	dbSNP_83	58	2,8598	1.2+/-3.3	0,2,4298	no	missense	IL28B	NM_172139.2	29	0,6,6497	TT,TC,CC		0.0233,0.0908,0.0461	benign	28/197	39735525	6,13000	2203	4300	6503	SO:0001583	missense	282617							g.chr19:39735525C>T	AY129149	CCDS12530.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000197110	ENSG00000197110		"Interferons"	18365	protein-coding gene	gene with protein product		607402	"interleukin 28B", "interleukin 28B (interferon, lambda 3)"	IL28B			Standard	NM_172139		Approved	IL-28B, IL28C	uc010xut.2	Q8IZI9	OTTHUMG00000182805	ENST00000413851.2:c.83G>A	19.37:g.39735525C>T	ENSP00000409000:p.Arg28His						p.R28H	NM_172139.2	NP_742151.2					1	121	-								A2BDE1|Q6VN56|Q7Z4J3|Q8IWL6	Missense_Mutation	SNP	ENST00000413851.2	37	c.83G>A	CCDS12530.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	C	0.272	-0.992437	0.02162	9.08E-4	2.33E-4	ENSG00000197110	ENST00000413851	T	0.13901	2.55	2.99	-5.98	0.02220	.	3.404510	0.00597	N	0.000366	T	0.03477	0.0100	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21965	-1.0230	10	0.36615	T	0.2	3.6856	1.6067	0.02685	0.1265:0.2535:0.3507:0.2693	rs629976;rs2596805	28	Q8IZI9	IL28B_HUMAN	H	28	ENSP00000409000:R28H	ENSP00000409000:R28H	R	-	2	0	IL28B	44427365	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.255000	0.00265	-4.973000	0.00025	-3.554000	0.00030	CGC		0.612	IFNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463832.1	NM_172139		6	158	0	0	0	1	0	6	158					T	39735525	C	T	39735525	3	4	20	1	0	0	0	0	1	0	0	0	7683	768	27	1	526	1	IL28B	19	39735525	Missense_Mutation	SNP	C	TCGA-BJ-A28S-01A-11D-A19J-08		39735525	19393458	22	567											
CEACAM20	125931	broad.mit.edu	37	chr19	45028102	45028102	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtaagtccctgagtcctccCgctggacaatgagaatggtg	13	10	0	2			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr19:45028102C>T	ENST00000454753.1	-	0	667							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)				TGAGTCCTCCCGCTGGACAAT	0.527																																						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							68	68	68					19																	45028102		2079	4228	6307			125931					integral to membrane		g.chr19:45028102C>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.45028102C>T										Q6UY09	CEA20_HUMAN			0	667	-		Prostate(69;0.0352)							RNA	SNP	ENST00000454753.1	37																																																																																						0.527	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		3	6	0	0	0	1	0	3	6					T	45028102	C	T	45028102	1	4	20	0	1	0	0	0	0	0	0	0	3191	652	23	1		1	CEACAM20	19	45028102	RNA	SNP	C	TCGA-BJ-A28S-01A-11D-A19J-08	5292577	45028102	14100881	23	568											
EXOC3L2	90332	broad.mit.edu	37	chr19	45716591	45716591	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgcgcaggccacggatgtcGaggagggctgccacgtgctt	16	11	0	0			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr19:45716591G>A	ENST00000252482.3	-	9	993	c.966C>T	c.(964-966)ctC>ctT	p.L322L	AC006126.3_ENST00000591569.1_Intron|EXOC3L2_ENST00000413988.1_Silent_p.L322L			Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	322					exocytosis (GO:0006887)	exocyst (GO:0000145)				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		CACGGATGTCGAGGAGGGCTG	0.672																																						ENST00000413988.1																			0				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(964-966)ctC>ctT		exocyst complex component 3-like 2							37	40	39					19																	45716591		2203	4300	6503	SO:0001819	synonymous_variant	90332							g.chr19:45716591G>A	AK093466	CCDS12657.1	19q13.32	2011-07-07			ENSG00000130201	ENSG00000130201			30162	protein-coding gene	gene with protein product						21566143	Standard	NM_138568		Approved	FLJ36147, XTP7	uc002pay.1	Q2M3D2	OTTHUMG00000155018	ENST00000252482.3:c.966C>T	19.37:g.45716591G>A						EXOC3L2_ENST00000252482.3_Silent_p.L322L|AC006126.3_ENST00000591569.1_Intron	p.L322L	NM_138568.3	NP_612635.3	Q2M3D2	EX3L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00883)	10	1006	-		all_neural(266;0.224)|Ovarian(192;0.231)	322					Q8N9W2|Q96GV2	Silent	SNP	ENST00000252482.3	37	c.966C>T	CCDS12657.1																																																																																				0.672	EXOC3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338073.1	NM_138568		44	89	0	0	0	1	0	44	89					A	45716591	G	A	45716591	2	1	20	1	0	0	0	0	0	0	0	1	5305	1045	37	1		1	EXOC3L2	19	45716591	Silent	SNP	G	TCGA-BJ-A28S-01A-11D-A19J-08	688489	45716591	13412392	24	569											
RBM12	10137	broad.mit.edu	37	chr20	34242285	34242285	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agcccatgaaaaaaatctctGacatcattttccattgcaga	5	10	2	3			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr20:34242285G>C	ENST00000374114.3	-	3	1223	c.960C>G	c.(958-960)gtC>gtG	p.V320V	CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000317677.5_5'Flank|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000352393.4_Intron|RBM12_ENST00000374104.3_Silent_p.V320V|CPNE1_ENST00000317619.3_Intron|RP1-309K20.6_ENST00000541176.2_Intron|RBM12_ENST00000359646.1_Silent_p.V320V	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	320	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			AAAAATCTCTGACATCATTTT	0.438																																						ENST00000374114.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(958-960)gtC>gtG		RNA binding motif protein 12							94	93	93					20																	34242285		2203	4300	6503	SO:0001819	synonymous_variant	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34242285G>C	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"RNA binding motif (RRM) containing"	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.960C>G	20.37:g.34242285G>C						CPNE1_ENST00000352393.4_Intron|RBM12_ENST00000374104.3_Silent_p.V320V|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397446.1_Intron|RBM12_ENST00000359646.1_Silent_p.V320V|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397442.1_Intron	p.V320V	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	1223	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		320			RRM 1.		B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Silent	SNP	ENST00000374114.3	37	c.960C>G	CCDS13261.1																																																																																				0.438	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		4	153	0	0	0	1	0	4	153					C	34242285	G	C	34242285	2	2	20	1	0	0	0	0	0	0	0	1	13113	1277	45	4		4	RBM12	20	34242285	Silent	SNP	G	TCGA-BJ-A28S-01A-11D-A19J-08		34242285	28783235	25	570											
BRWD1	54014	broad.mit.edu	37	chr21	40668280	40668280	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagagcccttccaaactgtgTgcctgcagtctttaaaatga	8	11	1	2			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr21:40668280T>C	ENST00000333229.2	-	6	686	c.359A>G	c.(358-360)cAc>cGc	p.H120R	BRWD1_ENST00000380800.3_Missense_Mutation_p.H120R|BRWD1_ENST00000470108.1_5'Flank|BRWD1_ENST00000342449.3_Missense_Mutation_p.H120R	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	120					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)				CCAAACTGTGTGCCTGCAGTC	0.368																																					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.(358-360)cAc>cGc		bromodomain and WD repeat domain containing 1							89	91	91					21																	40668280		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40668280T>C	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.359A>G	21.37:g.40668280T>C	ENSP00000330753:p.His120Arg					BRWD1_ENST00000380800.3_Missense_Mutation_p.H120R|BRWD1_ENST00000333229.2_Missense_Mutation_p.H120R	p.H120R	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			6	437	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	120					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.359A>G	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	T	12.28	1.891130	0.33348	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.16457	2.34;2.34;2.34	5.94	5.94	0.96194	.	0.133086	0.50627	D	0.000111	T	0.14657	0.0354	L	0.27053	0.805	0.80722	D	1	P;B	0.39862	0.692;0.031	B;B	0.39339	0.297;0.006	T	0.09487	-1.0672	10	0.21540	T	0.41	-7.5662	16.4075	0.83691	0.0:0.0:0.0:1.0	.	120;120	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	R	120	ENSP00000330753:H120R;ENSP00000344333:H120R;ENSP00000370178:H120R	ENSP00000330753:H120R	H	-	2	0	BRWD1	39590150	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.983000	0.49345	2.275000	0.75901	0.528000	0.53228	CAC		0.368	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		83	88	0	0	0	1	0	83	88					C	40668280	T	C	40668280	3	2	20	1	0	0	0	0	1	0	0	0	1525	1696	59	3	6990	3	BRWD1	21	40668280	Missense_Mutation	SNP	T	TCGA-BJ-A28S-01A-11D-A19J-08		40668280	7461615	26	571											
SLC5A1	6523	broad.mit.edu	37	chr22	32482250	32482250	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagaatgtgagaaatattgCggtaccaaggttggctgtac	12	6	1	2	rs199702272		TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr22:32482250C>T	ENST00000266088.4	+	10	1315	c.1065C>T	c.(1063-1065)tgC>tgT	p.C355C	SLC5A1_ENST00000543737.1_Silent_p.C228C	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	355					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	AGAAATATTGCGGTACCAAGG	0.468																																						ENST00000266088.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						c.(1063-1065)tgC>tgT		solute carrier family 5 (sodium/glucose cotransporter), member 1							192	166	175					22																	32482250		2203	4300	6503	SO:0001819	synonymous_variant	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32482250C>T		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"Solute carriers"	11036	protein-coding gene	gene with protein product	"sodium/glucose cotransporter 1"	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1065C>T	22.37:g.32482250C>T						SLC5A1_ENST00000543737.1_Silent_p.C228C	p.C355C	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN			10	1315	+			355					B2R7E2|B7Z4Q9|B7ZA69	Silent	SNP	ENST00000266088.4	37	c.1065C>T	CCDS13902.1																																																																																				0.468	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		4	263	0	0	0	1	0	4	263					T	32482250	C	T	32482250	2	4	20	1	0	0	0	0	0	0	0	1	14661	776	27	1		1	SLC5A1	22	32482250	Silent	SNP	C	TCGA-BJ-A28S-01A-11D-A19J-08		32482250	18822316	27	572											
PKDREJ	10343	broad.mit.edu	37	chr22	46658226	46658226	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctgcagggaactcctgaCgatccagacatagacggcgt	12	13	0	3			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr22:46658226C>T	ENST00000253255.5	-	1	993	c.994G>A	c.(994-996)Gtc>Atc	p.V332I		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	332	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GAACTCCTGACGATCCAGACA	0.547																																						ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(994-996)Gtc>Atc		polycystin (PKD) family receptor for egg jelly							125	133	131					22																	46658226		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46658226C>T	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like", "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like", "polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.994G>A	22.37:g.46658226C>T	ENSP00000253255:p.Val332Ile						p.V332I	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	993	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	332			REJ.		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.994G>A	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.562384	0.27915	.	.	ENSG00000130943	ENST00000253255	T	0.70045	-0.45	4.78	-9.57	0.00562	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	4.250190	0.00819	N	0.001575	T	0.42720	0.1215	L	0.34521	1.04	0.09310	N	1	B	0.31026	0.304	B	0.20384	0.029	T	0.32771	-0.9894	10	0.33141	T	0.24	2.3754	0.5519	0.00664	0.2901:0.179:0.2873:0.2435	.	332	Q9NTG1	PKDRE_HUMAN	I	332	ENSP00000253255:V332I	ENSP00000253255:V332I	V	-	1	0	PKDREJ	45036890	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.172000	0.01266	-2.267000	0.00686	-0.199000	0.12753	GTC		0.547	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		7	372	0	0	0	1	0	7	372					T	46658226	C	T	46658226	3	4	20	1	0	0	0	0	1	0	0	0	11970	536	19	1	5771	1	PKDREJ	22	46658226	Missense_Mutation	SNP	C	TCGA-BJ-A28S-01A-11D-A19J-08	14175976	46658226	4646340	28	573											
CXorf22	170063	broad.mit.edu	37	chrX	35989984	35989984	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaaatatgattttttacAggttctcaaaggacttaaat	7	4	1	1			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chrX:35989984A>T	ENST00000297866.5	+	13	2223		c.e13-1			NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22											breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GATTTTTTACAGGTTCTCAAA	0.323																																						ENST00000297866.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.e13-1		chromosome X open reading frame 22							25	22	23					X																	35989984		2202	4299	6501	SO:0001630	splice_region_variant	170063							g.chrX:35989984A>T	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2158-1A>T	X.37:g.35989984A>T								NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN			13	2223	+								Q5JRM8|Q8N6X8	Splice_Site	SNP	ENST00000297866.5	37		CCDS14237.2	.	.	.	.	.	.	.	.	.	.	A	8.748	0.920564	0.17982	.	.	ENSG00000165164	ENST00000297866	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9811	0.47494	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CXorf22	35899905	0.999000	0.42202	0.219000	0.23793	0.062000	0.15995	5.293000	0.65680	1.864000	0.54056	0.486000	0.48141	.		0.323	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632	Intron	13	1	0	0	0	1	0	13	1					T	35989984	A	T	35989984	5	4	20	1	0	0	0	0	0	0	1	0	4102	202	7	5	2206	5	CXorf22	23	35989984	Splice_Site	SNP	A	TCGA-BJ-A28S-01A-11D-A19J-08		35989984	119280576	29	574											
RLIM	51132	broad.mit.edu	37	chrX	73811938	73811938	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtcattatctgccttaacatGgtctgaattgcaacagatgt	8	8	3	2	rs61754468		TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					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)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			6	Substitution - coding silent(6)	p.T404T(6)	lung(3)|urinary_tract(1)|kidney(1)|endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1210-1212)acC>acG		ring finger protein, LIM domain interacting							102	92	95					X																	73811938		2203	4300	6503	SO:0001819	synonymous_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811938G>C	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"RING-type (C3HC4) zinc fingers"	13429	protein-coding gene	gene with protein product	"ring zinc finger protein NY-REN-43antigen", "LIM domain interacting ring finger protein"	300379	"ring finger protein 12"	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1212C>G	X.37:g.73811938G>C						RLIM_ENST00000349225.2_Silent_p.T404T	p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1430	-			404					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.1212C>G	CCDS14427.1																																																																																				0.413	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		4	89	0	0	0	1	0	4	89					C	73811938	G	C	73811938	2	2	20	1	0	0	0	0	0	0	0	1	13390	1335	47	4		4	RLIM	23	73811938	Silent	SNP	G	TCGA-BJ-A28S-01A-11D-A19J-08	37821954	73811938	81458622	30	575											
MAGEC3	139081	broad.mit.edu	37	chrX	140969464	140969464	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctcacctgtgaggggagtcTgagtgatgagcagggcatgc	16	9	2	4			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chrX:140969464T>A	ENST00000298296.1	+	4	791	c.791T>A	c.(790-792)cTg>cAg	p.L264Q	MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000536088.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	264	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGGGAGTCTGAGTGATGAG	0.478																																						ENST00000298296.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69						c.(790-792)cTg>cAg		melanoma antigen family C, 3							139	128	132					X																	140969464		2202	4300	6502	SO:0001583	missense	139081							g.chrX:140969464T>A	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 2"	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.791T>A	X.37:g.140969464T>A	ENSP00000298296:p.Leu264Gln					MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000448920.1_Intron	p.L264Q	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN			4	791	+	Acute lymphoblastic leukemia(192;6.56e-05)		264			MAGE 1.		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	c.791T>A	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	T	10.85	1.466113	0.26335	.	.	ENSG00000165509	ENST00000298296	T	0.06068	3.35	2.26	0.984	0.19773	.	.	.	.	.	T	0.15305	0.0369	M	0.64080	1.96	0.09310	N	1	D	0.76494	0.999	D	0.64410	0.925	T	0.12344	-1.0551	9	0.87932	D	0	.	3.9105	0.09201	0.3286:0.0:0.0:0.6713	.	264	Q8TD91	MAGC3_HUMAN	Q	264	ENSP00000298296:L264Q	ENSP00000298296:L264Q	L	+	2	0	MAGEC3	140797130	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.412000	0.21131	0.176000	0.19873	0.426000	0.28351	CTG		0.478	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		5	199	0	0	0	1	0	5	199					A	140969464	T	A	140969464	3	1	20	1	0	0	0	0	1	0	0	0	9182	1580	55	5	805	5	MAGEC3	23	140969464	Missense_Mutation	SNP	T	TCGA-BJ-A28S-01A-11D-A19J-08	67157526	140969464	14301096	31	576											
SLC35D2	11046	broad.mit.edu	37	chr9	99083567	99083567	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttttcttcacccacaggtTtaggttttaactggctgctc	8	10	2	0			TCGA-BJ-A28T-01A-11D-A16O-08	TCGA-BJ-A28T-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f018056-6042-4651-819c-869d8027a17e	530e1ddc-1a12-416e-9172-4a52473e61eb	g.chr9:99083567T>C	ENST00000253270.7	-	12	1033	c.971A>G	c.(970-972)aAa>aGa	p.K324R	SLC35D2_ENST00000375259.4_Missense_Mutation_p.K236R	NM_007001.2	NP_008932.2	Q76EJ3	S35D2_HUMAN	solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2	324					carbohydrate derivative transport (GO:1901264)|carbohydrate metabolic process (GO:0005975)|carbohydrate transport (GO:0008643)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|nucleotide transmembrane transport (GO:1901679)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)			endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12		Acute lymphoblastic leukemia(62;0.0167)				ACCCACAGGTTTAGGTTTTAA	0.448																																						ENST00000253270.7																			0				endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12						c.(970-972)aAa>aGa		solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2							110	104	106					9																	99083567		2203	4300	6503	SO:0001583	missense	11046					Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity	g.chr9:99083567T>C	AB122077	CCDS6717.1, CCDS69625.1	9q22.33	2013-07-17	2013-07-17		ENSG00000130958	ENSG00000130958		"Solute carriers"	20799	protein-coding gene	gene with protein product		609182	"solute carrier family 35, member D2"			15607426	Standard	NM_007001		Approved	UGTrel8, SQV7L	uc004awc.3	Q76EJ3	OTTHUMG00000020293	ENST00000253270.7:c.971A>G	9.37:g.99083567T>C	ENSP00000253270:p.Lys324Arg					SLC35D2_ENST00000375259.4_Missense_Mutation_p.K236R	p.K324R	NM_007001.2	NP_008932.2	Q76EJ3	S35D2_HUMAN			12	1033	-		Acute lymphoblastic leukemia(62;0.0167)	324					O95454|Q498C1|Q75W21|Q7Z5X5	Missense_Mutation	SNP	ENST00000253270.7	37	c.971A>G	CCDS6717.1	.	.	.	.	.	.	.	.	.	.	T	9.899	1.206375	0.22205	.	.	ENSG00000130958	ENST00000253270;ENST00000375259	T;T	0.65732	0.4;-0.17	4.64	0.802	0.18686	.	0.853536	0.10863	N	0.625828	T	0.56673	0.2001	L	0.61387	1.9	0.09310	N	1	B;B	0.29432	0.244;0.003	B;B	0.28991	0.097;0.002	T	0.43734	-0.9373	10	0.28530	T	0.3	.	10.5984	0.45352	0.0:0.0:0.5547:0.4453	.	236;324	Q76EJ3-2;Q76EJ3	.;S35D2_HUMAN	R	324;236	ENSP00000253270:K324R;ENSP00000364408:K236R	ENSP00000253270:K324R	K	-	2	0	SLC35D2	98123388	0.004000	0.15560	0.000000	0.03702	0.242000	0.25591	1.191000	0.32138	0.041000	0.15688	0.402000	0.26972	AAA		0.448	SLC35D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053261.1			6	68	0	0	0	0.001168	0	6	68					C	99083567	T	C	99083567	3	2	21	1	0	0	0	0	1	0	0	0	14582	1841	64	3	46	3	SLC35D2	9	99083567	Missense_Mutation	SNP	T	TCGA-BJ-A28T-01A-11D-A16O-08		99083567	42129864	1	577											
ATM	472	broad.mit.edu	37	chr11	108200988	108200988	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagttggatgaattagcccTgcgtgcactgaaagaggatc	14	7	0	3			TCGA-BJ-A28T-01A-11D-A16O-08	TCGA-BJ-A28T-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f018056-6042-4651-819c-869d8027a17e	530e1ddc-1a12-416e-9172-4a52473e61eb	g.chr11:108200988T>C	ENST00000452508.2	+	51	7544	c.7355T>C	c.(7354-7356)cTg>cCg	p.L2452P	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.L2452P			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2452	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GAATTAGCCCTGCGTGCACTG	0.373			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(7354-7356)cTg>cCg	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							117	120	119					11																	108200988		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108200988T>C	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.7355T>C	11.37:g.108200988T>C	ENSP00000388058:p.Leu2452Pro	TSP Lung(14;0.12)				C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.L2452P	p.L2452P	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	50	7740	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2452			FAT.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.7355T>C	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	T	15.25	2.777104	0.49786	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.84298	-1.83;-1.83	4.7	4.7	0.59300	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-type fold (1);	0.122188	0.56097	D	0.000035	D	0.89677	0.6784	L	0.53249	1.67	0.80722	D	1	D	0.71674	0.998	D	0.71870	0.975	D	0.90747	0.4654	10	0.87932	D	0	.	13.6318	0.62200	0.0:0.0:0.0:1.0	.	2452	Q13315	ATM_HUMAN	P	2452	ENSP00000278616:L2452P;ENSP00000388058:L2452P	ENSP00000278616:L2452P	L	+	2	0	ATM	107706198	1.000000	0.71417	0.997000	0.53966	0.042000	0.13812	7.603000	0.82811	1.860000	0.53959	0.459000	0.35465	CTG		0.373	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		3	67	0	0	0	0.004672	0	3	67					C	108200988	T	C	108200988	3	2	21	1	0	0	0	0	1	0	0	0	1109	1580	55	3	7549	3	ATM	11	108200988	Missense_Mutation	SNP	T	TCGA-BJ-A28T-01A-11D-A16O-08		108200988	26805528	2	578											
NLRP1	22861	broad.mit.edu	37	chr17	5418798	5418798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagctgttactgacctatgCgggctggagggatcagagta	15	7	1	3	rs367981968		TCGA-BJ-A28T-01A-11D-A16O-08	TCGA-BJ-A28T-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f018056-6042-4651-819c-869d8027a17e	530e1ddc-1a12-416e-9172-4a52473e61eb	g.chr17:5418798C>T	ENST00000572272.1	-	16	4096	c.4097G>A	c.(4096-4098)cGc>cAc	p.R1366H	NLRP1_ENST00000345221.3_Missense_Mutation_p.R1322H|NLRP1_ENST00000577119.1_Missense_Mutation_p.R1292H|RNU7-31P_ENST00000517262.1_RNA|NLRP1_ENST00000269280.4_Missense_Mutation_p.R1322H|NLRP1_ENST00000354411.3_Missense_Mutation_p.R1336H|NLRP1_ENST00000262467.5_Intron			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1366			R -> C (in dbSNP:rs2137722). {ECO:0000269|PubMed:11270363}.		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)				CTGACCTATGCGGGCTGGAGG	0.507																																						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.(3964-3966)cGc>cAc		NLR family, pyrin domain containing 1		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,	0,3998		0,0,1999	61	66	64		3965,4097,4007,3875,	-5.1	0.0	17		64	1,8327		0,1,4163	no	missense,missense,missense,missense,intron	NLRP1	NM_014922.4,NM_033004.3,NM_033006.3,NM_033007.3,NM_001033053.2	29,29,29,29,	0,1,6162	TT,TC,CC		0.012,0.0,0.0081	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,	1322/1430,1366/1474,1336/1444,1292/1400,	5418798	1,12325	1999	4164	6163	SO:0001583	missense	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.chr17:5418798C>T	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.4097G>A	17.37:g.5418798C>T	ENSP00000460475:p.Arg1366His					NLRP1_ENST00000354411.3_Missense_Mutation_p.R1336H|NLRP1_ENST00000262467.5_Intron|NLRP1_ENST00000572272.1_Missense_Mutation_p.R1366H|NLRP1_ENST00000577119.1_Missense_Mutation_p.R1292H|NLRP1_ENST00000269280.4_Missense_Mutation_p.R1322H	p.R1322H	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN			15	4519	-		Colorectal(1115;3.48e-05)	1366					E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	c.3965G>A	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	C	7.187	0.590741	0.13812	0.0	1.2E-4	ENSG00000091592	ENST00000269280;ENST00000354411;ENST00000345221	T;T	0.70399	-0.47;-0.48	4.17	-5.14	0.02875	.	2.920070	0.01662	N	0.025176	T	0.37705	0.1013	N	0.08118	0	0.09310	N	1	P;P;P;P	0.49358	0.923;0.923;0.875;0.923	B;B;B;B	0.34722	0.188;0.188;0.092;0.188	T	0.47315	-0.9127	10	0.15066	T	0.55	.	2.1421	0.03777	0.2833:0.3939:0.2013:0.1215	.	1292;1336;1366;1322	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2	.;.;NALP1_HUMAN;.	H	1366;1336;1322	ENSP00000346390:R1336H;ENSP00000324366:R1322H	ENSP00000269280:R1366H	R	-	2	0	NLRP1	5359522	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	-1.930000	0.01557	-0.925000	0.03775	-0.140000	0.14226	CGC		0.507	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		4	70	0	0	0	0.000602	0	4	70					T	5418798	C	T	5418798	3	4	21	1	0	0	0	0	1	0	0	0	10471	768	27	1	395	1	NLRP1	17	5418798	Missense_Mutation	SNP	C	TCGA-BJ-A28T-01A-11D-A16O-08		5418798	75776412	3	579											
ZNF345	25850	broad.mit.edu	37	chr19	37369148	37369148	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattcagagtttcagcaacaTaagaaaagtcataatggtaa	8	5	3	2			TCGA-BJ-A28T-01A-11D-A16O-08	TCGA-BJ-A28T-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f018056-6042-4651-819c-869d8027a17e	530e1ddc-1a12-416e-9172-4a52473e61eb	g.chr19:37369148T>C	ENST00000529555.1	+	2	2204	c.1416T>C	c.(1414-1416)caT>caC	p.H472H	ZNF345_ENST00000420450.1_Silent_p.H472H|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000589046.1_Silent_p.H472H			Q14585	ZN345_HUMAN	zinc finger protein 345	472					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCAGCAACATAAGAAAAGTC	0.358																																						ENST00000529555.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24						c.(1414-1416)caT>caC		zinc finger protein 345							80	86	84					19																	37369148		2202	4299	6501	SO:0001819	synonymous_variant	25850				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding	g.chr19:37369148T>C	X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"Zinc fingers, C2H2-type"	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.1416T>C	19.37:g.37369148T>C						ZNF345_ENST00000420450.1_Silent_p.H472H|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000589046.1_Silent_p.H472H|ZNF345_ENST00000432005.2_Intron	p.H472H			Q14585	ZN345_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		2	2204	+	Esophageal squamous(110;0.183)		472						Silent	SNP	ENST00000529555.1	37	c.1416T>C	CCDS12497.1																																																																																				0.358	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1			3	189	0	0	0	0.004672	0	3	189					C	37369148	T	C	37369148	2	2	21	1	0	0	0	0	0	0	0	1	17856	1403	49	3		3	ZNF345	19	37369148	Silent	SNP	T	TCGA-BJ-A28T-01A-11D-A16O-08		37369148	21759835	4	580											
PAK3	5063	broad.mit.edu	37	chrX	110406206	110406208	+	In_Frame_Del	DEL	GAA	GAA	-													ctgaagaagaagatgaagagGaagaagaagaagaagatgaa					rs374572591		TCGA-BJ-A28T-01A-11D-A16O-08	TCGA-BJ-A28T-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f018056-6042-4651-819c-869d8027a17e	2e6f101a-4c11-4f60-8549-6f4eec0c4121	g.chrX:110406206_110406208delGAA	ENST00000372010.1	+	10	1019_1021	c.577_579delGAA	c.(577-579)gaadel	p.E197del	PAK3_ENST00000519681.1_In_Frame_Del_p.E203del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000372007.5_In_Frame_Del_p.E182del			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	197	Linker.|Poly-Glu.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						agatgaagaggaagaagaagaag	0.394										TSP Lung(19;0.15)																												ENST00000519681.1																			0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(595-597)del		p21 protein (Cdc42/Rac)-activated kinase 3																																				SO:0001651	inframe_deletion	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110406206_110406208delGAA	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"mental retardation, X-linked 47", "p21 (CDKN1A)-activated kinase 3"	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.577_579delGAA	X.37:g.110406215_110406217delGAA	ENSP00000361080:p.Glu197del	TSP Lung(19;0.15)				PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000372007.4_In_Frame_Del_p.E182del|PAK3_ENST00000372010.1_In_Frame_Del_p.E197del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del	p.E203del			O75914	PAK3_HUMAN			10	1037_1039	+			197			Linker.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	In_Frame_Del	DEL	ENST00000372010.1	37	c.595_597delGAA	CCDS48153.1																																																																																				0.394	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		7	199						7	199	---	---	---	---	-	110406208	GAA	-	110406206	7	5	21	1	0	1	0	1	0	0	0	0	11402	1175	41	0	666	0	PAK3	23	110406206	In_Frame_Del	DEL	GAA	TCGA-BJ-A28T-01A-11D-A16O-08		110406206	44864354	5	581											
USP48	84196	broad.mit.edu	37	chr1	22084264	22084264	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accaagcaattcggatttccTttgcagtttcgtctaagggg	10	9	1	0			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr1:22084264T>C	ENST00000308271.9	-	2	795	c.147A>G	c.(145-147)aaA>aaG	p.K49K	USP48_ENST00000421625.2_Silent_p.K49K|USP48_ENST00000400301.1_Silent_p.K49K|USP48_ENST00000529637.1_Silent_p.K49K	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	49					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TCGGATTTCCTTTGCAGTTTC	0.333																																						ENST00000308271.9																			0				NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(145-147)aaA>aaG		ubiquitin specific peptidase 48							87	80	83					1																	22084264		2203	4300	6503	SO:0001819	synonymous_variant	84196				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:22084264T>C	AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"Ubiquitin-specific peptidases"	18533	protein-coding gene	gene with protein product			"ubiquitin specific protease 31", "ubiquitin specific protease 48"	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.147A>G	1.37:g.22084264T>C						USP48_ENST00000400301.1_Silent_p.K49K|USP48_ENST00000421625.2_Silent_p.K49K|USP48_ENST00000529637.1_Silent_p.K49K	p.K49K	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)	2	795	-		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	49					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	ENST00000308271.9	37	c.147A>G	CCDS30623.1																																																																																				0.333	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236		19	22	0	0	0	1	0	19	22					C	22084264	T	C	22084264	2	2	22	1	0	0	0	0	0	0	0	1	17076	1606	56	3		3	USP48	1	22084264	Silent	SNP	T	TCGA-BJ-A28V-01A-11D-A19J-08		22084264	227166357	1	582											
JAK1	3716	broad.mit.edu	37	chr1	65309860	65309860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggttcttggagtcctcaaCacactcaggagcaatccatg	9	12	3	0			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr1:65309860C>T	ENST00000342505.4	-	17	2538	c.2290G>A	c.(2290-2292)Gtt>Att	p.V764I	JAK1_ENST00000465376.1_5'UTR	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	764	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	GAGTCCTCAACACACTCAGGA	0.488			Mis		ALL																																	ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(2290-2292)Gtt>Att		Janus kinase 1							163	162	163					1																	65309860		2048	4193	6241	SO:0001583	missense	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65309860C>T	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.2290G>A	1.37:g.65309860C>T	ENSP00000343204:p.Val764Ile					JAK1_ENST00000465376.1_5'UTR	p.V764I	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	17	2538	-			764			Protein kinase 1.		Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	37	c.2290G>A	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.145495	0.37825	.	.	ENSG00000162434	ENST00000342505	T	0.81078	-1.45	5.37	4.47	0.54385	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.69878	0.3160	N	0.17901	0.54	0.53005	D	0.999968	D	0.69078	0.997	D	0.80764	0.994	T	0.70615	-0.4823	9	0.06099	T	0.92	-4.1919	14.4518	0.67389	0.0:0.9298:0.0:0.0702	.	764	P23458	JAK1_HUMAN	I	764	ENSP00000343204:V764I	ENSP00000343204:V764I	V	-	1	0	JAK1	65082448	1.000000	0.71417	0.993000	0.49108	0.305000	0.27757	2.851000	0.48302	1.511000	0.48818	-0.215000	0.12644	GTT		0.488	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		42	105	0	0	0	1	0	42	105					T	65309860	C	T	65309860	3	4	22	1	0	0	0	0	1	0	0	0	7937	478	17	2	1210	2	JAK1	1	65309860	Missense_Mutation	SNP	C	TCGA-BJ-A28V-01A-11D-A19J-08	43225596	65309860	183940761	2	583											
NUP210L	91181	broad.mit.edu	37	chr1	153984831	153984831	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actgagcattaatcttgatgAtgcattgaccaccacctgtc	7	11	1	4			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr1:153984831A>T	ENST00000368559.3	-	34	4740	c.4669T>A	c.(4669-4671)Tca>Aca	p.S1557T	NUP210L_ENST00000271854.3_Missense_Mutation_p.S1557T|NUP210L_ENST00000368553.1_Missense_Mutation_p.S490T	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1557					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AATCTTGATGATGCATTGACC	0.413																																						ENST00000368559.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(4669-4671)Tca>Aca		nucleoporin 210kDa-like							272	241	251					1																	153984831		1956	4166	6122	SO:0001583	missense	91181					integral to membrane		g.chr1:153984831A>T	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.4669T>A	1.37:g.153984831A>T	ENSP00000357547:p.Ser1557Thr					NUP210L_ENST00000368553.1_Missense_Mutation_p.S490T|NUP210L_ENST00000271854.3_Missense_Mutation_p.S1557T	p.S1557T	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		34	4740	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		1557					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.4669T>A	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	A	16.17	3.047196	0.55110	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	T;T;T	0.23348	3.44;1.91;3.24	6.0	6.0	0.97389	.	0.250753	0.28589	N	0.014802	T	0.11836	0.0288	L	0.44542	1.39	0.27433	N	0.953946	P;P	0.50443	0.935;0.935	P;P	0.45753	0.492;0.492	T	0.13737	-1.0498	10	0.09590	T	0.72	-31.9468	13.9332	0.64010	1.0:0.0:0.0:0.0	.	1557;1557	E7EP56;Q5VU65	.;P210L_HUMAN	T	1557;490;1557	ENSP00000357547:S1557T;ENSP00000357541:S490T;ENSP00000271854:S1557T	ENSP00000271854:S1557T	S	-	1	0	NUP210L	152251455	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.973000	0.63763	2.313000	0.78055	0.454000	0.30748	TCA		0.413	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		64	103	0	0	0	1	0	64	103					T	153984831	A	T	153984831	3	4	22	1	0	0	0	0	1	0	0	0	10761	333	12	5	1025	5	NUP210L	1	153984831	Missense_Mutation	SNP	A	TCGA-BJ-A28V-01A-11D-A19J-08	88674971	153984831	95265790	3	584											
CD46	4179	broad.mit.edu	37	chr1	207934709	207934724	+	Frame_Shift_Del	DEL	AGATCCATTTTCACTT	AGATCCATTTTCACTT	-													tgtgatcctgcacctggaccAgatccattttcacttattgg							TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr1:207934709_207934724delAGATCCATTTTCACTT	ENST00000358170.2	+	5	747_762	c.591_606delAGATCCATTTTCACTT	c.(589-606)ccagatccattttcacttfs	p.PDPFSL197fs	CD46_ENST00000441839.2_Frame_Shift_Del_p.PDPFSL197fs|CD46_ENST00000354848.1_Frame_Shift_Del_p.PDPFSL197fs|CD46_ENST00000367041.1_Frame_Shift_Del_p.PDPFSL197fs|CD46_ENST00000367042.1_Frame_Shift_Del_p.PDPFSL197fs|CD46_ENST00000360212.2_Frame_Shift_Del_p.PDPFSL197fs|CD46_ENST00000480003.1_Frame_Shift_Del_p.PDPFSL197fs|CD46_ENST00000322918.5_Frame_Shift_Del_p.PDPFSL197fs|CD46_ENST00000357714.1_Frame_Shift_Del_p.PDPFSL197fs|CD46_ENST00000361067.1_Frame_Shift_Del_p.PDPFSL197fs|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000322875.4_Frame_Shift_Del_p.PDPFSL197fs|CD46_ENST00000367047.1_Frame_Shift_Del_p.PDPFSL134fs	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	197	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						CACCTGGACCAGATCCATTTTCACTTATTGGAGAGA	0.38																																						ENST00000358170.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						c.(589-606)ccfs		CD46 molecule, complement regulatory protein																																				SO:0001589	frameshift_variant	4179				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity	g.chr1:207934709_207934724delAGATCCATTTTCACTT	BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"CD molecules", "Complement system"	6953	protein-coding gene	gene with protein product		120920	"antigen identified by monoclonal antibody TRA-2-10", "membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)", "CD46 antigen, complement regulatory protein"	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.591_606delAGATCCATTTTCACTT	1.37:g.207934709_207934724delAGATCCATTTTCACTT	ENSP00000350893:p.Pro197fs					CD46_ENST00000367047.1_Frame_Shift_Del_p.PDPFSL134fs|CD46_ENST00000354848.1_Frame_Shift_Del_p.PDPFSL197fs|CD46_ENST00000367042.1_Frame_Shift_Del_p.PDPFSL197fs|CD46_ENST00000322875.4_Frame_Shift_Del_p.PDPFSL197fs|CD46_ENST00000480003.1_Frame_Shift_Del_p.PDPFSL197fs|CD46_ENST00000441839.2_Frame_Shift_Del_p.PDPFSL197fs|CD46_ENST00000357714.1_Frame_Shift_Del_p.PDPFSL197fs|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000322918.5_Frame_Shift_Del_p.PDPFSL197fs|CD46_ENST00000360212.2_Frame_Shift_Del_p.PDPFSL197fs|CD46_ENST00000367041.1_Frame_Shift_Del_p.PDPFSL197fs|CD46_ENST00000361067.1_Frame_Shift_Del_p.PDPFSL197fs	p.PDPFSL197fs	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN			5	747_762	+			197			Sushi 3.		A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Frame_Shift_Del	DEL	ENST00000358170.2	37	c.591_606delAGATCCATTTTCACTT	CCDS1485.1																																																																																				0.38	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088588.3	NM_172361		9	45						9	45	---	---	---	---	-	207934724	AGATCCATTTTCACTT	-	207934709	7	5	22	1	0	1	0	1	0	0	0	0	3018	175	7	0	609	0	CD46	1	207934709	Frame_Shift_Del	DEL	AGATCCATTTTCACTT	TCGA-BJ-A28V-01A-11D-A19J-08	53949878	207934709	41315912	4	585											
PCNXL2	80003	broad.mit.edu	37	chr1	233152767	233152767	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acgggacgtagtcatcatcaAtgttaatgttgaacattgca	9	7	3	1	rs538249519		TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr1:233152767A>T	ENST00000258229.9	-	27	4973	c.4739T>A	c.(4738-4740)aTt>aAt	p.I1580N	PCNXL2_ENST00000344698.2_Missense_Mutation_p.I232N	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1580						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)				GTCATCATCAATGTTAATGTT	0.458																																						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.(4738-4740)aTt>aAt		pecanex-like 2 (Drosophila)							143	137	139					1																	233152767		1985	4149	6134	SO:0001583	missense	80003					integral to membrane		g.chr1:233152767A>T	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.4739T>A	1.37:g.233152767A>T	ENSP00000258229:p.Ile1580Asn					PCNXL2_ENST00000344698.2_Missense_Mutation_p.I232N	p.I1580N	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			27	4973	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1580					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.4739T>A	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	A	18.52	3.642831	0.67244	.	.	ENSG00000135749	ENST00000344698;ENST00000258229	T;T	0.26373	1.74;2.85	5.8	0.898	0.19264	.	0.149732	0.64402	D	0.000016	T	0.20740	0.0499	L	0.41415	1.275	0.80722	D	1	B;P	0.48089	0.002;0.905	B;B	0.42653	0.025;0.394	T	0.02015	-1.1229	10	0.87932	D	0	.	9.8652	0.41138	0.746:0.0:0.254:0.0	.	1580;232	A6NKB5;A6NKB5-3	PCX2_HUMAN;.	N	232;1580	ENSP00000340759:I232N;ENSP00000258229:I1580N	ENSP00000258229:I1580N	I	-	2	0	PCNXL2	231219390	1.000000	0.71417	0.776000	0.31678	0.942000	0.58702	4.990000	0.63876	-0.100000	0.12241	-0.274000	0.10170	ATT		0.458	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		38	54	0	0	0	1	0	38	54					T	233152767	A	T	233152767	3	4	22	1	0	0	0	0	1	0	0	0	11592	101	4	5	1706	5	PCNXL2	1	233152767	Missense_Mutation	SNP	A	TCGA-BJ-A28V-01A-11D-A19J-08	25218058	233152767	16097854	5	586											
APOB	338	broad.mit.edu	37	chr2	21245891	21245891	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aactccacagacacggagggTtttgccaccagttcagcctg	10	13	1	1			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr2:21245891T>A	ENST00000233242.1	-	18	2755	c.2628A>T	c.(2626-2628)aaA>aaT	p.K876N		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	876					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACACGGAGGGTTTTGCCACCA	0.473																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(2626-2628)aaA>aaT		apolipoprotein B	Atorvastatin(DB01076)						100	103	102					2																	21245891		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21245891T>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2628A>T	2.37:g.21245891T>A	ENSP00000233242:p.Lys876Asn						p.K876N	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			18	2755	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		876					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.2628A>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	T	17.41	3.383134	0.61845	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.21031	2.03	5.51	0.263	0.15602	Lipid transport protein, beta-sheet shell (1);Vitellinogen, open beta-sheet (1);Vitellinogen, open beta-sheet, subdomain 2 (1);	0.177736	0.38778	N	0.001571	T	0.35998	0.0951	M	0.75447	2.3	0.80722	D	1	D	0.58268	0.982	P	0.59825	0.864	T	0.08953	-1.0697	10	0.49607	T	0.09	.	9.1461	0.36933	0.0:0.3577:0.0:0.6423	.	876	P04114	APOB_HUMAN	N	876	ENSP00000233242:K876N	ENSP00000233242:K876N	K	-	3	2	APOB	21099396	0.988000	0.35896	0.614000	0.29051	0.722000	0.41435	0.182000	0.16900	0.045000	0.15804	-0.290000	0.09829	AAA		0.473	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			4	69	0	0	0	1	0	4	69					A	21245891	T	A	21245891	3	1	22	1	0	0	0	0	1	0	0	0	785	1722	60	5	11111	5	APOB	2	21245891	Missense_Mutation	SNP	T	TCGA-BJ-A28V-01A-11D-A19J-08		21245891	221953482	6	587											
ABCG8	64241	broad.mit.edu	37	chr2	44079903	44079903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatctggtcctcctgatgaCgtctggcacccccatctact	8	15	3	3	rs201133496		TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr2:44079903C>T	ENST00000272286.2	+	6	950	c.860C>T	c.(859-861)aCg>aTg	p.T287M		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	287	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CTCCTGATGACGTCTGGCACC	0.587																																						ENST00000272286.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(859-861)aCg>aTg		ATP-binding cassette, sub-family G (WHITE), member 8							92	84	87					2																	44079903		2203	4300	6503	SO:0001583	missense	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44079903C>T	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"ATP binding cassette transporters / subfamily G"	13887	protein-coding gene	gene with protein product	"gallbladder disease 4", "sterolin 2"	605460	"ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.860C>T	2.37:g.44079903C>T	ENSP00000272286:p.Thr287Met						p.T287M	NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN			6	950	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	287			ABC transporter.		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.860C>T	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099860	0.56183	.	.	ENSG00000143921	ENST00000272286	T	0.41758	0.99	5.57	4.64	0.57946	ABC transporter-like (1);	0.216247	0.48767	D	0.000170	T	0.59018	0.2163	L	0.56769	1.78	0.45342	D	0.99833	D;D	0.76494	0.999;0.998	D;P	0.64595	0.927;0.847	T	0.62459	-0.6850	10	0.87932	D	0	.	15.9022	0.79387	0.0:0.8646:0.1354:0.0	.	287;287	Q9H221-2;Q9H221	.;ABCG8_HUMAN	M	287	ENSP00000272286:T287M	ENSP00000272286:T287M	T	+	2	0	ABCG8	43933407	1.000000	0.71417	0.096000	0.21009	0.137000	0.21094	4.575000	0.60908	2.614000	0.88457	0.655000	0.94253	ACG		0.587	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		6	71	0	0	0	1	0	6	71					T	44079903	C	T	44079903	3	4	22	1	0	0	0	0	1	0	0	0	72	536	19	1	882	1	ABCG8	2	44079903	Missense_Mutation	SNP	C	TCGA-BJ-A28V-01A-11D-A19J-08	22834012	44079903	199119470	7	588											
HEG1	57493	broad.mit.edu	37	chr3	124746059	124746059	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcactcacatgaggaaagGtctaagagaggagaggaagc	15	6	2	3			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr3:124746059G>A	ENST00000311127.4	-	3	970	c.903C>T	c.(901-903)gaC>gaT	p.D301D		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	301					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						ATGAGGAAAGGTCTAAGAGAG	0.468																																						ENST00000311127.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						c.(901-903)gaC>gaT		heart development protein with EGF-like domains 1							42	46	45					3																	124746059		1987	4151	6138	SO:0001819	synonymous_variant	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124746059G>A	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"heart of glass"	614182	"HEG homolog 1 (zebrafish)"			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.903C>T	3.37:g.124746059G>A							p.D301D	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN			3	970	-			301					Q6NX66|Q8NC40|Q9BSV0	Silent	SNP	ENST00000311127.4	37	c.903C>T	CCDS46898.1																																																																																				0.468	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		3	9	0	0	0	1	0	3	9					A	124746059	G	A	124746059	2	1	22	1	0	0	0	0	0	0	0	1	7044	1252	44	2		2	HEG1	3	124746059	Silent	SNP	G	TCGA-BJ-A28V-01A-11D-A19J-08		124746059	73276371	8	589											
TKTL2	84076	broad.mit.edu	37	chr4	164394293	164394293	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctggtagatgtctgcgccAtgctcaaggggtgcagggcc	15	10	3	1			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr4:164394293A>C	ENST00000280605.3	-	1	754	c.594T>G	c.(592-594)caT>caG	p.H198Q		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	198						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGTCTGCGCCATGCTCAAGGG	0.527																																						ENST00000280605.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70						c.(592-594)caT>caG		transketolase-like 2							72	72	72					4																	164394293		2203	4300	6503	SO:0001583	missense	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164394293A>C	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"similar to transketolase"					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.594T>G	4.37:g.164394293A>C	ENSP00000280605:p.His198Gln						p.H198Q	NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN			1	754	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	198					A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	c.594T>G	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	A	9.085	1.000261	0.19121	.	.	ENSG00000151005	ENST00000280605	T	0.29397	1.57	3.75	0.831	0.18860	Transketolase, N-terminal (1);	0.060527	0.64402	D	0.000004	T	0.42562	0.1208	M	0.62016	1.91	0.51233	D	0.999919	D	0.61080	0.989	D	0.65323	0.934	T	0.23619	-1.0183	10	0.62326	D	0.03	-7.8207	5.3787	0.16179	0.2038:0.1685:0.6277:0.0	.	198	Q9H0I9	TKTL2_HUMAN	Q	198	ENSP00000280605:H198Q	ENSP00000280605:H198Q	H	-	3	2	TKTL2	164613743	0.978000	0.34361	0.002000	0.10522	0.009000	0.06853	0.793000	0.26944	0.164000	0.19529	-0.177000	0.13119	CAT		0.527	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		37	60	0	0	0	1	0	37	60					C	164394293	A	C	164394293	3	2	22	1	0	0	0	0	1	0	0	0	15933	214	8	5	1290	5	TKTL2	4	164394293	Missense_Mutation	SNP	A	TCGA-BJ-A28V-01A-11D-A19J-08		164394293	26759983	9	590											
KIF4B	285643	broad.mit.edu	37	chr5	154393803	154393803	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcaaagaaattgataaAaagagtgactttgaatttac	6	5	2	5			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr5:154393803A>G	ENST00000435029.4	+	1	544	c.384A>G	c.(382-384)aaA>aaG	p.K128K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	128	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.			K -> Q (in Ref. 1; AF241316). {ECO:0000305}.	antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAATTGATAAAAAGAGTGACT	0.373																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(382-384)aaA>aaG		kinesin family member 4B							82	88	86					5																	154393803		2203	4298	6501	SO:0001819	synonymous_variant	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154393803A>G	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.384A>G	5.37:g.154393803A>G							p.K128K	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	544	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	128	K -> Q (in Ref. 1; AF241316).		Kinesin-motor.			Silent	SNP	ENST00000435029.4	37	c.384A>G	CCDS47324.1																																																																																				0.373	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			39	75	0	0	0	1	0	39	75					G	154393803	A	G	154393803	2	3	22	1	0	0	0	0	0	0	0	1	8304	11	1	3		3	KIF4B	5	154393803	Silent	SNP	A	TCGA-BJ-A28V-01A-11D-A19J-08		154393803	26521457	10	591											
NSD1	64324	broad.mit.edu	37	chr5	176721551	176721552	+	Frame_Shift_Ins	INS	-	-	A													cgccagacagactgctcattINSactagcagtcccaaacccca							TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr5:176721551_176721552insA	ENST00000439151.2	+	23	7227_7228	c.7182_7183insA	c.(7183-7185)actfs	p.T2395fs	NSD1_ENST00000354179.4_Frame_Shift_Ins_p.T2126fs|NSD1_ENST00000361032.4_Frame_Shift_Ins_p.T2292fs|NSD1_ENST00000347982.4_Frame_Shift_Ins_p.T2126fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2395	Pro-rich.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		GACTGCTCATTACTAGCAGTCC	0.545			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(7180-7185)atctagfs		nuclear receptor binding SET domain protein 1																																				SO:0001589	frameshift_variant	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176721551_176721552insA	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.7183dupA	5.37:g.176721552_176721552dupA	ENSP00000395929:p.Thr2395fs	HNSCC(47;0.14)				NSD1_ENST00000354179.4_Frame_Shift_Ins_p.*2126fs|NSD1_ENST00000361032.4_Frame_Shift_Ins_p.*2292fs|NSD1_ENST00000347982.4_Frame_Shift_Ins_p.*2126fs	p.*2395fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	23	7227_7228	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	2395			Pro-rich.		Q96PD8|Q96RN7	Frame_Shift_Ins	INS	ENST00000439151.2	37	c.7182_7183insA	CCDS4412.1																																																																																				0.545	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		44	76						44	76	---	---	---	---	A	176721552	-	A	176721551	7	5	22	1	0	1	1	0	0	0	0	0	10669	1742	61	0	7268	0	NSD1	5	176721551	Frame_Shift_Ins	INS	-	TCGA-BJ-A28V-01A-11D-A19J-08	22327748	176721551	4193709	11	592											
TBX18	9096	broad.mit.edu	37	chr6	85446689	85446689	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tattataggaaccctgatggGtctggttagtggcgaaggca	14	6	1	1			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr6:85446689G>C	ENST00000369663.5	-	8	1875	c.1538C>G	c.(1537-1539)aCc>aGc	p.T513S	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	513					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		ACCCTGATGGGTCTGGTTAGT	0.498																																						ENST00000369663.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61						c.(1537-1539)aCc>aGc		T-box 18							139	152	148					6																	85446689		2203	4300	6503	SO:0001583	missense	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85446689G>C	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"T-boxes"	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1538C>G	6.37:g.85446689G>C	ENSP00000358677:p.Thr513Ser					TBX18_ENST00000606784.1_Intron	p.T513S	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	8	1875	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	513					A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	c.1538C>G	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	G	2.887	-0.230436	0.05983	.	.	ENSG00000112837	ENST00000369663	D	0.87412	-2.25	5.26	5.26	0.73747	.	0.428736	0.27236	N	0.020284	T	0.65344	0.2682	N	0.12182	0.205	0.37536	D	0.9181	B	0.17268	0.021	B	0.15052	0.012	T	0.63395	-0.6647	10	0.11485	T	0.65	.	18.8443	0.92198	0.0:0.0:1.0:0.0	.	513	O95935	TBX18_HUMAN	S	513	ENSP00000358677:T513S	ENSP00000358677:T513S	T	-	2	0	TBX18	85503408	1.000000	0.71417	1.000000	0.80357	0.191000	0.23601	3.805000	0.55575	2.453000	0.82957	0.585000	0.79938	ACC		0.498	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		19	124	0	0	0	1	0	19	124					C	85446689	G	C	85446689	3	2	22	1	0	0	0	0	1	0	0	0	15650	1261	44	4	289	4	TBX18	6	85446689	Missense_Mutation	SNP	G	TCGA-BJ-A28V-01A-11D-A19J-08		85446689	85668378	12	593											
DCLRE1C	64421	broad.mit.edu	37	chr10	14950925	14950925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatcagagtcactgaaaaGctttggtgactgagatcccc	9	11	2	4			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr10:14950925G>A	ENST00000378278.2	-	14	1598	c.1561C>T	c.(1561-1563)Ctt>Ttt	p.L521F	DCLRE1C_ENST00000396817.2_Missense_Mutation_p.L401F|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.L401F|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.L406F|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.L406F|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.L401F|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.L406F|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.L401F|DCLRE1C_ENST00000453695.2_Missense_Mutation_p.L401F|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.L174F			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	521					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						TCACTGAAAAGCTTTGGTGAC	0.453								Non-homologous end-joining																														ENST00000453695.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						c.(1201-1203)Ctt>Ttt	Non-homologous end-joining	DNA cross-link repair 1C							49	49	49					10																	14950925		2203	4300	6503	SO:0001583	missense	64421				DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity	g.chr10:14950925G>A	BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"PSO2 homolog (S. cerevisiae)"	605988	"severe combined immunodeficiency, type a (Athabascan)", "DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.1561C>T	10.37:g.14950925G>A	ENSP00000367527:p.Leu521Phe					DCLRE1C_ENST00000378258.1_Missense_Mutation_p.L401F|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.L406F|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.L406F|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.L521F|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.L401F|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.L174F|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.L406F|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.L401F|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.L401F	p.L401F	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN			14	1645	-			521					D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	ENST00000378278.2	37	c.1201C>T	CCDS31149.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.924458	0.73213	.	.	ENSG00000152457	ENST00000453695;ENST00000378246;ENST00000357717;ENST00000378249;ENST00000396817;ENST00000378255;ENST00000378254;ENST00000378278;ENST00000378258;ENST00000378242	T;T;T;T;T;T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78;1.78;1.78;1.78;1.78;1.78	5.93	5.02	0.67125	.	0.188507	0.45361	D	0.000369	T	0.34395	0.0896	L	0.34521	1.04	0.36403	D	0.863263	D;D	0.63046	0.992;0.99	P;P	0.62298	0.9;0.762	T	0.42949	-0.9421	10	0.72032	D	0.01	.	9.6033	0.39619	0.0736:0.0:0.7823:0.1441	.	406;521	Q96SD1-3;Q96SD1	.;DCR1C_HUMAN	F	401;406;406;406;401;401;401;521;401;174	ENSP00000400529:L401F;ENSP00000367492:L406F;ENSP00000350349:L406F;ENSP00000367496:L406F;ENSP00000380030:L401F;ENSP00000367503:L401F;ENSP00000367502:L401F;ENSP00000367527:L521F;ENSP00000367506:L401F;ENSP00000367488:L174F	ENSP00000350349:L406F	L	-	1	0	DCLRE1C	14990931	1.000000	0.71417	0.999000	0.59377	0.928000	0.56348	1.860000	0.39428	1.486000	0.48398	0.655000	0.94253	CTT		0.453	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046934.1	NM_022487		10	29	0	0	0	1	0	10	29					A	14950925	G	A	14950925	3	1	22	1	0	0	0	0	1	0	0	0	4296	971	34	2	521	2	DCLRE1C	10	14950925	Missense_Mutation	SNP	G	TCGA-BJ-A28V-01A-11D-A19J-08		14950925	120583822	13	594											
ADO	84890	broad.mit.edu	37	chr10	64565000	64565000	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgaagagcctcctgacccagCtccgcgccgaggacttgaac	11	15	0	4			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr10:64565000C>G	ENST00000373783.1	+	1	485	c.181C>G	c.(181-183)Ctc>Gtc	p.L61V	RP11-436D10.3_ENST00000425290.1_RNA	NM_032804.5	NP_116193.2	Q96SZ5	AEDO_HUMAN	2-aminoethanethiol (cysteamine) dioxygenase	61						mitochondrion (GO:0005739)	cysteamine dioxygenase activity (GO:0047800)|metal ion binding (GO:0046872)			lung(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					CCTGACCCAGCTCCGCGCCGA	0.687																																						ENST00000373783.1																			0				lung(2)	2						c.(181-183)Ctc>Gtc		2-aminoethanethiol (cysteamine) dioxygenase							19	20	19					10																	64565000		2199	4293	6492	SO:0001583	missense	84890						cysteamine dioxygenase activity|metal ion binding	g.chr10:64565000C>G	BC028589	CCDS7266.2	10q21.3	2007-08-28	2007-08-28	2007-08-28	ENSG00000181915	ENSG00000181915	1.13.11.19		23506	protein-coding gene	gene with protein product	"cysteamine dioxygenase"	611392	"chromosome 10 open reading frame 22"	C10orf22		17581819	Standard	NM_032804		Approved	FLJ14547	uc001jmg.3	Q96SZ5	OTTHUMG00000018306	ENST00000373783.1:c.181C>G	10.37:g.64565000C>G	ENSP00000362888:p.Leu61Val					RP11-436D10.3_ENST00000425290.1_RNA	p.L61V	NM_032804.5	NP_116193.2	Q96SZ5	AEDO_HUMAN			1	485	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		61					B1AL29	Missense_Mutation	SNP	ENST00000373783.1	37	c.181C>G	CCDS7266.2	.	.	.	.	.	.	.	.	.	.	c	1.896	-0.454375	0.04540	.	.	ENSG00000181915	ENST00000373783	T	0.49720	0.77	4.99	0.65	0.17812	Cupin, RmlC-type (1);	0.224693	0.35870	N	0.002922	T	0.17323	0.0416	N	0.02539	-0.55	0.24527	N	0.994137	B	0.11235	0.004	B	0.15052	0.012	T	0.30736	-0.9968	10	0.06494	T	0.89	-11.3433	10.5299	0.44971	0.0738:0.372:0.5542:0.0	.	61	Q96SZ5	AEDO_HUMAN	V	61	ENSP00000362888:L61V	ENSP00000362888:L61V	L	+	1	0	ADO	64235006	0.953000	0.32496	1.000000	0.80357	0.843000	0.47879	0.331000	0.19733	0.216000	0.20781	-0.777000	0.03380	CTC		0.687	ADO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048243.2	NM_032804		13	9	0	0	0	1	0	13	9					G	64565000	C	G	64565000	3	3	22	1	0	0	0	0	1	0	0	0	325	797	28	4	183	4	ADO	10	64565000	Missense_Mutation	SNP	C	TCGA-BJ-A28V-01A-11D-A19J-08	49614075	64565000	70969747	14	595											
OR10AG1	282770	broad.mit.edu	37	chr11	55735773	55735773	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatttccaaaagggaaaaaTtgctaagaaaaaaatacatg	7	4	0	2			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr11:55735773T>C	ENST00000312345.2	-	1	217	c.167A>G	c.(166-168)aAt>aGt	p.N56S		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AAGGGAAAAATTGCTAAGAAA	0.343																																						ENST00000312345.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(166-168)aAt>aGt		olfactory receptor, family 10, subfamily AG, member 1							56	64	61					11																	55735773		2200	4296	6496	SO:0001583	missense	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735773T>C	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"GPCR / Class A : Olfactory receptors"	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.167A>G	11.37:g.55735773T>C	ENSP00000311477:p.Asn56Ser						p.N56S	NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN			1	217	-	Esophageal squamous(21;0.0137)		56					B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	c.167A>G	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	T	7.510	0.654528	0.14580	.	.	ENSG00000174970	ENST00000312345	T	0.12774	2.65	5.36	4.23	0.50019	GPCR, rhodopsin-like superfamily (1);	0.117120	0.38326	N	0.001727	T	0.17577	0.0422	M	0.78637	2.42	0.09310	N	1	P	0.45011	0.848	B	0.38921	0.285	T	0.18618	-1.0331	10	0.66056	D	0.02	.	9.6179	0.39704	0.0:0.0841:0.0:0.9159	.	56	Q8NH19	O10AG_HUMAN	S	56	ENSP00000311477:N56S	ENSP00000311477:N56S	N	-	2	0	OR10AG1	55492349	0.007000	0.16637	0.004000	0.12327	0.022000	0.10575	1.673000	0.37534	0.893000	0.36288	-0.698000	0.03680	AAT		0.343	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		26	59	0	0	0	1	0	26	59					C	55735773	T	C	55735773	3	2	22	1	0	0	0	0	1	0	0	0	10897	1493	52	3	741	3	OR10AG1	11	55735773	Missense_Mutation	SNP	T	TCGA-BJ-A28V-01A-11D-A19J-08		55735773	79270743	15	596											
OR9I1	219954	broad.mit.edu	37	chr11	57886441	57886441	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgaaggtgcaagtggtaCgcaggatggctcctgacacc	16	9	0	2	rs139300657		TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr11:57886441C>T	ENST00000302610.1	-	1	475	c.476G>A	c.(475-477)cGt>cAt	p.R159H	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R159H(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				GCAAGTGGTACGCAGGATGGC	0.542													C|||	1	0.000199681	0	0.0014	5008	,	,		20976	0		0	False		,,,				2504	0					ENST00000302610.1																			1	Substitution - Missense(1)	p.R159H(1)	urinary_tract(1)	endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23						c.(475-477)cGt>cAt		olfactory receptor, family 9, subfamily I, member 1		C	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	57	55	56		476	4.0	1.0	11	dbSNP_134	56	5,8587	4.3+/-15.6	0,5,4291	yes	missense	OR9I1	NM_001005211.1	29	0,6,6491	TT,TC,CC		0.0582,0.0227,0.0462	benign	159/315	57886441	6,12988	2201	4296	6497	SO:0001583	missense	219954				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57886441C>T	AB065733	CCDS31542.1	11q12.1	2012-08-09			ENSG00000172377	ENSG00000172377		"GPCR / Class A : Olfactory receptors"	14718	protein-coding gene	gene with protein product							Standard	NM_001005211		Approved		uc021qjl.1	Q8NGQ6	OTTHUMG00000167404	ENST00000302610.1:c.476G>A	11.37:g.57886441C>T	ENSP00000302606:p.Arg159His					OR9Q1_ENST00000335397.3_Intron	p.R159H	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN			1	475	-		Breast(21;0.0589)	159					Q6IFH0|Q96RA8	Missense_Mutation	SNP	ENST00000302610.1	37	c.476G>A	CCDS31542.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	0.672	-0.801673	0.02841	2.27E-4	5.82E-4	ENSG00000172377	ENST00000302610	T	0.00017	9.1	4.96	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	D	0.000341	T	0.00039	0.0001	N	0.01277	-0.915	0.09310	N	0.999993	B	0.33857	0.429	B	0.29176	0.099	T	0.03933	-1.0991	10	0.02654	T	1	-4.4557	7.1379	0.25539	0.0:0.7432:0.0:0.2568	.	159	Q8NGQ6	OR9I1_HUMAN	H	159	ENSP00000302606:R159H	ENSP00000302606:R159H	R	-	2	0	OR9I1	57643017	0.000000	0.05858	0.988000	0.46212	0.650000	0.38633	0.034000	0.13776	1.433000	0.47394	0.460000	0.39030	CGT		0.542	OR9I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394539.1	NM_001005211		3	18	0	0	0	1	0	3	18					T	57886441	C	T	57886441	3	4	22	1	0	0	0	0	1	0	0	0	11253	536	19	1	472	1	OR9I1	11	57886441	Missense_Mutation	SNP	C	TCGA-BJ-A28V-01A-11D-A19J-08	2150668	57886441	77120075	16	597											
GUCY2C	2984	broad.mit.edu	37	chr12	14836053	14836053	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagttttgaagggcagatcGttggttttccaaaagttaac	10	5	0	2			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr12:14836053G>A	ENST00000261170.3	-	4	670	c.534C>T	c.(532-534)aaC>aaT	p.N178N	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	178					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	AGGGCAGATCGTTGGTTTTCC	0.383																																						ENST00000261170.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(532-534)aaC>aaT		guanylate cyclase 2C (heat stable enterotoxin receptor)							97	91	93					12																	14836053		2203	4300	6503	SO:0001819	synonymous_variant	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14836053G>A		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.534C>T	12.37:g.14836053G>A						RP11-174G6.1_ENST00000501178.2_RNA	p.N178N	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN			4	670	-			178					B2RMY6	Silent	SNP	ENST00000261170.3	37	c.534C>T	CCDS8664.1																																																																																				0.383	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			21	24	0	0	0	1	0	21	24					A	14836053	G	A	14836053	2	1	22	1	0	0	0	0	0	0	0	1	6896	1136	40	1		1	GUCY2C	12	14836053	Silent	SNP	G	TCGA-BJ-A28V-01A-11D-A19J-08		14836053	119015842	17	598											
PLEKHA5	54477	broad.mit.edu	37	chr12	19501352	19501352	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtccagattatagactctAcaagagtgaaccagagttaa	10	7	1	5			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr12:19501352A>G	ENST00000299275.6	+	19	2426	c.2420A>G	c.(2419-2421)tAc>tGc	p.Y807C	PLEKHA5_ENST00000538714.1_Missense_Mutation_p.Y865C|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.Y865C|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.Y870C|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.Y565C|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.Y796C|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.Y789C|PLEKHA5_ENST00000359180.3_Intron|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.Y973C	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	807					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					TATAGACTCTACAAGAGTGAA	0.333																																					Pancreas(196;329 2193 11246 14234 19524)	ENST00000538714.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2593-2595)tAc>tGc		pleckstrin homology domain containing, family A member 5							99	101	100					12																	19501352		2203	4300	6503	SO:0001583	missense	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19501352A>G	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"Pleckstrin homology (PH) domain containing"	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.2420A>G	12.37:g.19501352A>G	ENSP00000299275:p.Tyr807Cys					PLEKHA5_ENST00000299275.6_Missense_Mutation_p.Y807C|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.Y865C|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.Y565C|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.Y973C|PLEKHA5_ENST00000359180.3_Intron|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.Y796C|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.Y870C|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.Y789C	p.Y865C	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN			21	2598	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		807					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	c.2594A>G	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	A	19.02	3.745440	0.69418	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000542828;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974	D;T;D;T;T;T;D;D;D	0.88741	-2.42;2.11;-2.42;2.18;1.8;2.11;-2.42;-2.42;-2.42	5.09	5.09	0.68999	.	0.126713	0.56097	D	0.000040	D	0.94341	0.8181	M	0.83012	2.62	0.45239	D	0.998247	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.994;1.0;0.999;0.996;0.999;0.999;1.0	D	0.93978	0.7255	10	0.38643	T	0.18	-10.8403	15.1692	0.72858	1.0:0.0:0.0:0.0	.	870;789;796;968;973;807;865	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;PKHA5_HUMAN;.	C	870;865;969;973;807;565;865;796;789;762	ENSP00000325155:Y870C;ENSP00000347560:Y865C;ENSP00000404296:Y973C;ENSP00000299275:Y807C;ENSP00000440611:Y565C;ENSP00000439673:Y865C;ENSP00000400411:Y796C;ENSP00000439837:Y789C;ENSP00000440371:Y762C	ENSP00000299275:Y807C	Y	+	2	0	PLEKHA5	19392619	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.731000	0.84895	2.014000	0.59158	0.460000	0.39030	TAC		0.333	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		9	78	0	0	0	1	0	9	78					G	19501352	A	G	19501352	3	3	22	1	0	0	0	0	1	0	0	0	12059	391	14	3	2812	3	PLEKHA5	12	19501352	Missense_Mutation	SNP	A	TCGA-BJ-A28V-01A-11D-A19J-08	4665299	19501352	114350543	18	599											
PXMP2	5827	broad.mit.edu	37	chr12	133266955	133266955	+	Frame_Shift_Del	DEL	G	G	-													gtgggcctctgagatatgccGtttacgggtgagtgccatac							TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr12:133266955delG	ENST00000317479.3	+	2	294	c.229delG	c.(229-231)gttfs	p.V77fs	PXMP2_ENST00000539093.1_Frame_Shift_Del_p.P2fs|PXMP2_ENST00000543589.1_Frame_Shift_Del_p.V77fs|RP13-672B3.2_ENST00000537262.1_Frame_Shift_Del_p.P2fs|PXMP2_ENST00000545677.1_Frame_Shift_Del_p.P2fs|PXMP2_ENST00000428960.2_5'UTR	NM_018663.1	NP_061133.1	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	77						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|protein complex (GO:0043234)				large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		GAGATATGCCGTTTACGGGTG	0.498																																						ENST00000545677.1																			0				large_intestine(1)|liver(2)|lung(1)	4						c.(4-6)ccfs		peroxisomal membrane protein 2, 22kDa							74	73	74					12																	133266955		2203	4300	6503	SO:0001589	frameshift_variant	5827					integral to membrane|peroxisomal membrane	protein binding	g.chr12:133266955delG		CCDS9279.1	12q24	2010-08-18	2002-08-29		ENSG00000176894	ENSG00000176894			9716	protein-coding gene	gene with protein product			"peroxisomal membrane protein 2 (22kD)"			11590176	Standard	NM_018663		Approved	PMP22	uc001ukt.3	Q9NR77	OTTHUMG00000168019	ENST00000317479.3:c.229delG	12.37:g.133266955delG	ENSP00000321271:p.Val77fs					PXMP2_ENST00000543589.1_Frame_Shift_Del_p.V77fs|PXMP2_ENST00000539093.1_Frame_Shift_Del_p.P2fs|RP13-672B3.2_ENST00000537262.1_Frame_Shift_Del_p.P2fs|PXMP2_ENST00000428960.2_5'UTR|PXMP2_ENST00000317479.3_Frame_Shift_Del_p.V77fs	p.P2fs			Q9NR77	PXMP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)	2	209	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		0						Frame_Shift_Del	DEL	ENST00000317479.3	37	c.6delG	CCDS9279.1																																																																																				0.498	PXMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397553.1	NM_018663		18	36						18	36	---	---	---	---	-	133266955	G	-	133266955	7	5	22	1	0	1	0	1	0	0	0	0	12850	1145	40	0	235	0	PXMP2	12	133266955	Frame_Shift_Del	DEL	G	TCGA-BJ-A28V-01A-11D-A19J-08	113765603	133266955	584940	19	600											
OR4M1	441670	broad.mit.edu	37	chr14	20249247	20249247	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtgctaatgtttgggccaTccatctacatttatgctcgc	9	10	1	0			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr14:20249247T>C	ENST00000315957.4	+	1	847	c.766T>C	c.(766-768)Tcc>Ccc	p.S256P		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	256						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)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTTTGGGCCATCCATCTACAT	0.423																																						ENST00000315957.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42						c.(766-768)Tcc>Ccc		olfactory receptor, family 4, subfamily M, member 1							227	210	216					14																	20249247		2203	4300	6503	SO:0001583	missense	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20249247T>C		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"GPCR / Class A : Olfactory receptors"	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.766T>C	14.37:g.20249247T>C	ENSP00000319654:p.Ser256Pro						p.S256P	NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	847	+	all_cancers(95;0.00108)		256					B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	c.766T>C	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	15.15	2.749035	0.49257	.	.	ENSG00000176299	ENST00000315957	T	0.00115	8.71	4.42	3.25	0.37280	GPCR, rhodopsin-like superfamily (1);	0.281254	0.25851	N	0.027888	T	0.00109	0.0003	L	0.38175	1.15	0.32041	N	0.598205	B	0.21905	0.062	B	0.20955	0.032	T	0.16305	-1.0407	10	0.72032	D	0.01	-11.3993	5.1896	0.15203	0.181:0.0:0.1883:0.6307	.	256	Q8NGD0	OR4M1_HUMAN	P	256	ENSP00000319654:S256P	ENSP00000319654:S256P	S	+	1	0	OR4M1	19319087	0.000000	0.05858	1.000000	0.80357	0.982000	0.71751	0.084000	0.14891	0.822000	0.34565	0.414000	0.27820	TCC		0.423	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			43	126	0	0	0	1	0	43	126					C	20249247	T	C	20249247	3	2	22	1	0	0	0	0	1	0	0	0	11075	1435	50	3	768	3	OR4M1	14	20249247	Missense_Mutation	SNP	T	TCGA-BJ-A28V-01A-11D-A19J-08		20249247	87100293	20	601											
CACNA1H	8912	broad.mit.edu	37	chr16	1262015	1262015	+	Frame_Shift_Del	DEL	G	G	-													tgctcatcgtcagcttcttcGtgctcaacatgttcgtgggc							TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr16:1262015delG	ENST00000348261.5	+	25	4884	c.4636delG	c.(4636-4638)gtgfs	p.V1546fs	CACNA1H_ENST00000565831.1_Frame_Shift_Del_p.V1546fs|CACNA1H_ENST00000358590.4_Frame_Shift_Del_p.V1546fs	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1546					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CAGCTTCTTCGTGCTCAACAT	0.642																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(4636-4638)tgfs		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						251	266	261					16																	1262015		2172	4273	6445	SO:0001589	frameshift_variant	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1262015delG	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.4636delG	16.37:g.1262015delG	ENSP00000334198:p.Val1546fs					CACNA1H_ENST00000358590.4_Frame_Shift_Del_p.V1546fs|CACNA1H_ENST00000565831.1_Frame_Shift_Del_p.V1546fs	p.V1546fs	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			25	4884	+		Hepatocellular(780;0.00369)	1546					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Frame_Shift_Del	DEL	ENST00000348261.5	37	c.4636delG	CCDS45375.1																																																																																				0.642	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		56	269						56	269	---	---	---	---	-	1262015	G	-	1262015	7	5	22	1	0	1	0	1	0	0	0	0	2545	1145	40	0	4730	0	CACNA1H	16	1262015	Frame_Shift_Del	DEL	G	TCGA-BJ-A28V-01A-11D-A19J-08		1262015	89092738	21	602											
PKD1	5310	broad.mit.edu	37	chr16	2153765	2153765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgttgagcacgcgggagcGcatgaggatgcgcatgaggg	18	9	0	3	rs144979397	byFrequency	TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr16:2153765G>A	ENST00000262304.4	-	23	8501	c.8293C>T	c.(8293-8295)Cgc>Tgc	p.R2765C	PKD1_ENST00000561991.1_5'UTR|PKD1_ENST00000423118.1_Missense_Mutation_p.R2765C	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2765	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.		R -> C (in dbSNP:rs144979397). {ECO:0000269|PubMed:11115377, ECO:0000269|PubMed:11857740}.|R -> RILMR (in PKD1).		anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACGCGGGAGCGCATGAGGATG	0.692													g|||	10	0.00199681	0	0.0058	5008	,	,		10724	0		0.006	False		,,,				2504	0					ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(8293-8295)Cgc>Tgc		polycystic kidney disease 1 (autosomal dominant)		G	CYS/ARG,CYS/ARG	12,4340		0,12,2164	24	25	25		8293,8293	3.9	1.0	16	dbSNP_134	25	63,8493		0,63,4215	no	missense,missense	PKD1	NM_000296.3,NM_001009944.2	180,180	0,75,6379	AA,AG,GG		0.7363,0.2757,0.581	probably-damaging,probably-damaging	2765/4303,2765/4304	2153765	75,12833	2176	4278	6454	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2153765G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.8293C>T	16.37:g.2153765G>A	ENSP00000262304:p.Arg2765Cys					PKD1_ENST00000561991.1_5'UTR|PKD1_ENST00000423118.1_Missense_Mutation_p.R2765C	p.R2765C	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			23	8501	-			2765		R -> C.|R -> RILMR (in ADPKD1).	REJ.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.8293C>T	CCDS32369.1	10	0.004578754578754579	0	0.0	0	0.0	0	0.0	10	0.013192612137203167	G	21.7	4.190255	0.78789	0.002757	0.007363	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101;ENST00000382481	T;T	0.38401	1.14;1.14	4.89	3.88	0.44766	Egg jelly receptor, REJ-like (1);	0.315268	0.32785	N	0.005656	T	0.40171	0.1106	L	0.56769	1.78	0.43107	D	0.994805	D;D	0.76494	0.999;0.998	P;P	0.59703	0.862;0.719	T	0.41233	-0.9520	10	0.56958	D	0.05	.	10.5734	0.45212	0.0:0.0:0.618:0.382	.	2765;2765	P98161-3;P98161	.;PKD1_HUMAN	C	2765;2765;2100;1044	ENSP00000262304:R2765C;ENSP00000399501:R2765C	ENSP00000262304:R2765C	R	-	1	0	PKD1	2093766	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.491000	0.66887	2.535000	0.85469	0.555000	0.69702	CGC		0.692	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			4	46	0	0	0	1	0	4	46					A	2153765	G	A	2153765	3	1	22	1	0	0	0	0	1	0	0	0	11963	1087	38	1	4714	1	PKD1	16	2153765	Missense_Mutation	SNP	G	TCGA-BJ-A28V-01A-11D-A19J-08	891750	2153765	88200988	22	603											
MYH3	4621	broad.mit.edu	37	chr17	10558261	10558261	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atattcttcctttgagtccaCcacgaagcaatacgtcttgg	7	11	2	1			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr17:10558261C>A	ENST00000583535.1	-	3	208	c.121G>T	c.(121-123)Gtg>Ttg	p.V41L	MYH3_ENST00000226209.7_Missense_Mutation_p.V41L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	41					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTTGAGTCCACCACGAAGCAA	0.507																																						ENST00000583535.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(121-123)Gtg>Ttg		myosin, heavy chain 3, skeletal muscle, embryonic							241	226	231					17																	10558261		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10558261C>A		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.121G>T	17.37:g.10558261C>A	ENSP00000464317:p.Val41Leu					MYH3_ENST00000226209.7_Missense_Mutation_p.V41L	p.V41L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			3	208	-			41			Myosin head-like.		Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.121G>T	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784287	0.49997	.	.	ENSG00000109063	ENST00000226209	T	0.80304	-1.36	5.38	5.38	0.77491	Myosin, N-terminal, SH3-like (1);	.	.	.	.	T	0.78729	0.4329	L	0.61036	1.89	0.27742	N	0.944462	B	0.02656	0.0	B	0.09377	0.004	T	0.71441	-0.4592	9	0.72032	D	0.01	.	12.6162	0.56578	0.0:0.9249:0.0:0.0751	.	41	P11055	MYH3_HUMAN	L	41	ENSP00000226209:V41L	ENSP00000226209:V41L	V	-	1	0	MYH3	10498986	0.004000	0.15560	1.000000	0.80357	0.895000	0.52256	0.397000	0.20883	2.794000	0.96219	0.655000	0.94253	GTG		0.507	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		54	162	1	0	3.88204e-17	1	4.35259e-17	54	162					A	10558261	C	A	10558261	3	1	22	1	0	0	0	0	1	0	0	0	10036	507	18	4	5857	4	MYH3	17	10558261	Missense_Mutation	SNP	C	TCGA-BJ-A28V-01A-11D-A19J-08		10558261	70636949	23	604											
FUT3	2525	broad.mit.edu	37	chr19	5844724	5844724	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgggagccctaggggatcCagtggcatcgtctcgggaca	15	11	1	0			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr19:5844724C>A	ENST00000303225.6	-	3	761	c.127G>T	c.(127-129)Gga>Tga	p.G43*	FUT3_ENST00000589620.1_Nonsense_Mutation_p.G43*|AC024592.9_ENST00000589276.1_RNA|FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000589918.1_Nonsense_Mutation_p.G43*|FUT3_ENST00000458379.2_Nonsense_Mutation_p.G43*	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	43					cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CTAGGGGATCCAGTGGCATCG	0.622																																					Esophageal Squamous(82;745 1728 24593 44831)	ENST00000303225.6																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						c.(127-129)Gga>Tga		fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)							23	25	24					19																	5844724		2203	4300	6503	SO:0001587	stop_gained	2525				protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity	g.chr19:5844724C>A		CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"CD molecules", "Blood group antigens", "Fucosyltransferases"	4014	protein-coding gene	gene with protein product		111100	"fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.127G>T	19.37:g.5844724C>A	ENSP00000305603:p.Gly43*					FUT3_ENST00000458379.2_Nonsense_Mutation_p.G43*|FUT3_ENST00000589918.1_Nonsense_Mutation_p.G43*|FUT3_ENST00000589620.1_Nonsense_Mutation_p.G43*	p.G43*	NM_000149.3	NP_000140.1	P21217	FUT3_HUMAN			3	761	-			43					B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Nonsense_Mutation	SNP	ENST00000303225.6	37	c.127G>T	CCDS12153.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.911321	0.33721	.	.	ENSG00000171124	ENST00000303225;ENST00000458379	.	.	.	0.931	-1.86	0.07760	.	2.011830	0.02604	N	0.101372	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	2.7676	0.05324	0.3013:0.3982:0.3005:0.0	.	.	.	.	X	43	.	ENSP00000305603:G43X	G	-	1	0	FUT3	5795724	0.000000	0.05858	0.000000	0.03702	0.148000	0.21650	-0.701000	0.05075	-0.888000	0.03956	0.205000	0.17691	GGA		0.622	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452204.1	NM_000149		8	12	1	0	3.09899e-07	1	3.37242e-07	8	12					A	5844724	C	A	5844724	4	1	22	1	0	0	0	0	0	1	0	0	6105	603	21	4	962	4	FUT3	19	5844724	Nonsense_Mutation	SNP	C	TCGA-BJ-A28V-01A-11D-A19J-08		5844724	53284259	24	605											
SULT2A1	6822	broad.mit.edu	37	chr19	48389378	48389378	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacgattctgcctccttaCctgatttggggtaagtcaat	8	10	3	1			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr19:48389378C>T	ENST00000222002.3	-	1	276		c.e1+1			NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|bile acid catabolic process (GO:0030573)|cellular lipid metabolic process (GO:0044255)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	bile-salt sulfotransferase activity (GO:0047704)|sulfotransferase activity (GO:0008146)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	Abiraterone(DB05812)|Acetaminophen(DB00316)	TGCCTCCTTACCTGATTTGGG	0.413																																						ENST00000222002.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20						c.e1+1		sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1							276	226	243					19																	48389378		2203	4300	6503	SO:0001630	splice_region_variant	6822				3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity	g.chr19:48389378C>T	X70222	CCDS12707.1	19q13.3	2014-05-21			ENSG00000105398	ENSG00000105398	2.8.2.2	"Sulfotransferases, cytosolic"	11458	protein-coding gene	gene with protein product		125263		STD		1588921, 7736787	Standard	NM_003167		Approved	DHEA-ST	uc002phr.2	Q06520	OTTHUMG00000162469	ENST00000222002.3:c.136+1G>A	19.37:g.48389378C>T								NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	1	276	-		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)							Splice_Site	SNP	ENST00000222002.3	37		CCDS12707.1	.	.	.	.	.	.	.	.	.	.	c	15.75	2.925776	0.52759	.	.	ENSG00000105398	ENST00000222002	.	.	.	3.88	3.88	0.44766	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7328	0.62799	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SULT2A1	53081190	1.000000	0.71417	0.998000	0.56505	0.864000	0.49448	2.824000	0.48088	2.176000	0.68965	0.637000	0.83480	.		0.413	SULT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369044.1	NM_003167	Intron	29	155	0	0	0	1	0	29	155					T	48389378	C	T	48389378	5	4	22	1	0	0	0	0	0	0	1	0	15378	521	18	2	744	2	SULT2A1	19	48389378	Splice_Site	SNP	C	TCGA-BJ-A28V-01A-11D-A19J-08	42544654	48389378	10739605	25	606											
DOK5	55816	broad.mit.edu	37	chr20	53267018	53267018	+	Nonstop_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcctacagatctgagcactgAcagtaactgccaagaattgt	9	10	1	4			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr20:53267018A>T	ENST00000262593.5	+	8	1271	c.921A>T	c.(919-921)tgA>tgT	p.*307C	DOK5_ENST00000395939.1_Nonstop_Mutation_p.*199C	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	0					MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			CTGAGCACTGACAGTAACTGC	0.423																																						ENST00000262593.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19						c.(919-921)tgA>tgT		docking protein 5							83	70	74					20																	53267018		2203	4300	6503	SO:0001578	stop_lost	55816						insulin receptor binding	g.chr20:53267018A>T	AF132732	CCDS13446.1, CCDS13447.1	20q13.2	2013-01-10	2002-11-28	2002-11-29	ENSG00000101134	ENSG00000101134		"Pleckstrin homology (PH) domain containing"	16173	protein-coding gene	gene with protein product		608334	"chromosome 20 open reading frame 180"	C20orf180		11470823	Standard	XM_005260451		Approved	dJ805C22.1	uc002xwy.3	Q9P104	OTTHUMG00000032778	ENST00000262593.5:c.921A>T	20.37:g.53267018A>T	ENSP00000262593:p.*307Cysext*2					DOK5_ENST00000395939.1_Nonstop_Mutation_p.*199C	p.*307C	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	Colorectal(105;0.202)		8	1271	+			0					Q5T7Y0|Q5TE53|Q8TEW7|Q96H13|Q9BZ24|Q9NQF4|Q9Y411	Nonstop_Mutation	SNP	ENST00000262593.5	37	c.921A>T	CCDS13446.1	.	.	.	.	.	.	.	.	.	.	A	13.99	2.402367	0.42613	.	.	ENSG00000101134	ENST00000262593;ENST00000395939	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3115	0.74035	1.0:0.0:0.0:0.0	.	.	.	.	C	307;199	.	.	X	+	3	0	DOK5	52700425	1.000000	0.71417	0.998000	0.56505	0.344000	0.29017	5.981000	0.70524	2.207000	0.71202	0.533000	0.62120	TGA		0.423	DOK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079777.2			4	45	0	0	0	1	0	4	45					T	53267018	A	T	53267018	4	4	22	1	0	0	0	0	0	0	0	0	4700	288	10	5	951	5	DOK5	20	53267018	Nonstop_Mutation	SNP	A	TCGA-BJ-A28V-01A-11D-A19J-08		53267018	9758502	26	607											
ZFYVE9	9372	broad.mit.edu	37	chr1	52703746	52703746	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggatccattgaatagaccGaaaacagaggggagatctgt	12	6	1	4			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr1:52703746G>A	ENST00000371591.1	+	3	788	c.657G>A	c.(655-657)ccG>ccA	p.P219P	ZFYVE9_ENST00000287727.3_Silent_p.P219P|ZFYVE9_ENST00000357206.2_Silent_p.P219P	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	219					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TGAATAGACCGAAAACAGAGG	0.363																																						ENST00000287727.3																			0				breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						c.(655-657)ccG>ccA		zinc finger, FYVE domain containing 9							85	88	87					1																	52703746		2203	4300	6503	SO:0001819	synonymous_variant	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52703746G>A	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"Zinc fingers, FYVE domain containing"	6775	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 173"	603755	"MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.657G>A	1.37:g.52703746G>A						ZFYVE9_ENST00000371591.1_Silent_p.P219P|ZFYVE9_ENST00000361625.1_Silent_p.P219P|ZFYVE9_ENST00000357206.2_Silent_p.P219P	p.P219P	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN			4	829	+			219					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Silent	SNP	ENST00000371591.1	37	c.657G>A	CCDS563.1																																																																																				0.363	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		4	237	0	0	0	1	0	4	237					A	52703746	G	A	52703746	2	1	23	1	0	0	0	0	0	0	0	1	17668	1045	37	1		1	ZFYVE9	1	52703746	Silent	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08		52703746	196546875	1	608											
TGFBR3	7049	broad.mit.edu	37	chr1	92262932	92262932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccagttgtgcctctgctgGcacagcctgacaaaacagtg	11	13	1	1			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr1:92262932G>A	ENST00000525962.1	-	2	219	c.158C>T	c.(157-159)gCc>gTc	p.A53V	TGFBR3_ENST00000212355.4_Missense_Mutation_p.A53V|TGFBR3_ENST00000370399.2_Missense_Mutation_p.A53V			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	53					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GCCTCTGCTGGCACAGCCTGA	0.602																																						ENST00000212355.4																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(157-159)gCc>gTc		transforming growth factor, beta receptor III							94	96	95					1																	92262932		2203	4300	6503	SO:0001583	missense	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92262932G>A	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"Proteoglycans / Cell surface : Other"	11774	protein-coding gene	gene with protein product	"betaglycan proteoglycan"	600742	"transforming growth factor, beta receptor III (betaglycan, 300kDa)"			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.158C>T	1.37:g.92262932G>A	ENSP00000436127:p.Ala53Val					TGFBR3_ENST00000370399.2_Missense_Mutation_p.A53V|TGFBR3_ENST00000525962.1_Missense_Mutation_p.A53V	p.A53V	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	3	623	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	53					A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	c.158C>T	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	G	31	5.093986	0.94149	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.46541	0.1398	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.24119	-1.0169	10	0.09084	T	0.74	-20.6722	20.0795	0.97766	0.0:0.0:1.0:0.0	.	53;53	Q03167-2;Q03167	.;TGBR3_HUMAN	V	53	ENSP00000212355:A53V;ENSP00000359426:A53V;ENSP00000436127:A53V;ENSP00000432638:A53V	ENSP00000212355:A53V	A	-	2	0	TGFBR3	92035520	1.000000	0.71417	1.000000	0.80357	0.602000	0.36980	8.916000	0.92745	2.747000	0.94245	0.650000	0.86243	GCC		0.602	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		5	280	0	0	0	1	0	5	280					A	92262932	G	A	92262932	3	1	23	1	0	0	0	0	1	0	0	0	15820	1203	42	2	2457	2	TGFBR3	1	92262932	Missense_Mutation	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08	39559186	92262932	156987689	2	609											
KCNC4	3749	broad.mit.edu	37	chr1	110754255	110754255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcatcaacgtgggcggcaCgcgacatgagacctaccgca	11	14	2	1			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr1:110754255C>T	ENST00000369787.3	+	1	161	c.134C>T	c.(133-135)aCg>aTg	p.T45M	KCNC4_ENST00000413138.3_Missense_Mutation_p.T45M|KCNC4_ENST00000438661.2_Missense_Mutation_p.T45M|KCNC4-AS1_ENST00000455967.1_RNA	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	45					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTGGGCGGCACGCGACATGAG	0.682																																						ENST00000369787.3																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32						c.(133-135)aCg>aTg		potassium voltage-gated channel, Shaw-related subfamily, member 4							53	52	52					1																	110754255		2203	4300	6503	SO:0001583	missense	3749				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr1:110754255C>T	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6236	protein-coding gene	gene with protein product		176265	"chromosome 1 open reading frame 30"	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.134C>T	1.37:g.110754255C>T	ENSP00000358802:p.Thr45Met					KCNC4_ENST00000438661.2_Missense_Mutation_p.T45M|KCNC4_ENST00000413138.3_Missense_Mutation_p.T45M	p.T45M	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	161	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	45					Q3MIM4|Q5TBI6	Missense_Mutation	SNP	ENST00000369787.3	37	c.134C>T	CCDS821.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.390136	0.42410	.	.	ENSG00000116396	ENST00000369787;ENST00000413138;ENST00000438661	T;T;T	0.77489	-1.1;-1.1;-1.1	4.02	3.1	0.35709	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.77824	0.4188	L	0.49778	1.585	0.49582	D	0.999805	P;P;D	0.76494	0.67;0.619;0.999	B;B;D	0.68039	0.283;0.119;0.955	T	0.79988	-0.1571	10	0.66056	D	0.02	.	10.6474	0.45628	0.0:0.9034:0.0:0.0966	.	45;45;45	Q03721;Q03721-3;Q03721-2	KCNC4_HUMAN;.;.	M	45	ENSP00000358802:T45M;ENSP00000388029:T45M;ENSP00000393655:T45M	ENSP00000358802:T45M	T	+	2	0	KCNC4	110555778	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.794000	0.69067	1.800000	0.52685	0.462000	0.41574	ACG		0.682	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		3	67	0	0	0	1	0	3	67					T	110754255	C	T	110754255	3	4	23	1	0	0	0	0	1	0	0	0	8017	536	19	1	136	1	KCNC4	1	110754255	Missense_Mutation	SNP	C	TCGA-BJ-A28X-01A-11D-A22D-08	18491323	110754255	138496366	3	610											
TMEM63A	9725	broad.mit.edu	37	chr1	226050509	226050509	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagtttggccacgttgtaGcacagctgcacatcaaccac	8	13	2	0			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr1:226050509G>A	ENST00000366835.3	-	11	1059	c.789C>T	c.(787-789)tgC>tgT	p.C263C	TMEM63A_ENST00000537914.1_5'UTR|TMEM63A_ENST00000474478.1_5'UTR	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	263					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CCACGTTGTAGCACAGCTGCA	0.577																																						ENST00000366835.3																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(787-789)tgC>tgT		transmembrane protein 63A							115	81	93					1																	226050509		2203	4300	6503	SO:0001819	synonymous_variant	9725					integral to membrane|lysosomal membrane	nucleotide binding	g.chr1:226050509G>A		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"KIAA0792"	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.789C>T	1.37:g.226050509G>A						TMEM63A_ENST00000474478.1_5'UTR|TMEM63A_ENST00000537914.1_5'UTR	p.C263C	NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN			11	1059	-	Breast(184;0.197)		263					Q53GI7|Q5TE96|Q8N2U2	Silent	SNP	ENST00000366835.3	37	c.789C>T	CCDS31042.1																																																																																				0.577	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698		3	79	0	0	0	1	0	3	79					A	226050509	G	A	226050509	2	1	23	1	0	0	0	0	0	0	0	1	16187	963	34	2		2	TMEM63A	1	226050509	Silent	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08	115296254	226050509	23200112	4	611											
FILIP1L	11259	broad.mit.edu	37	chr3	99568273	99568273	+	Frame_Shift_Del	DEL	T	T	-													ctgttttcttgttgatttagTtttttttgcaggactgagtg							TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr3:99568273delT	ENST00000354552.3	-	5	2717	c.2247delA	c.(2245-2247)aaafs	p.K749fs	FILIP1L_ENST00000331335.5_Frame_Shift_Del_p.K749fs|FILIP1L_ENST00000383694.2_Frame_Shift_Del_p.K509fs|FILIP1L_ENST00000487087.1_Frame_Shift_Del_p.K325fs|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000471562.1_Frame_Shift_Del_p.K509fs|CMSS1_ENST00000421999.2_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	749						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						GTTGATTTAGTTTTTTTTGCA	0.403																																						ENST00000331335.5																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(2245-2247)aafs		filamin A interacting protein 1-like							166	147	153					3																	99568273		1847	4097	5944	SO:0001589	frameshift_variant	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99568273delT		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"downregulated in ovarian cancer 1", "GPBP-interacting protein of 130 kDa"	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.2247delA	3.37:g.99568273delT	ENSP00000346560:p.Lys749fs					CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000354552.3_Frame_Shift_Del_p.K749fs|FILIP1L_ENST00000487087.1_Frame_Shift_Del_p.K325fs|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000383694.2_Frame_Shift_Del_p.K509fs|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000471562.1_Frame_Shift_Del_p.K509fs	p.K749fs	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN			5	2717	-			749					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Frame_Shift_Del	DEL	ENST00000354552.3	37	c.2247delA	CCDS43117.1																																																																																				0.403	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		7	202						7	202	---	---	---	---	-	99568273	T	-	99568273	7	5	23	1	0	1	0	1	0	0	0	0	5895	1722	60	0	1189	0	FILIP1L	3	99568273	Frame_Shift_Del	DEL	T	TCGA-BJ-A28X-01A-11D-A22D-08		99568273	98454157	5	612											
MYH15	22989	broad.mit.edu	37	chr3	108224618	108224618	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttccatcatcttcactcccTtttacctcagcctcgatata	3	15	4	0			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr3:108224618T>C	ENST00000273353.3	-	3	263	c.207A>G	c.(205-207)aaA>aaG	p.K69K		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	69						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.K69K(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTTCACTCCCTTTTACCTCAG	0.348																																						ENST00000273353.3																			1	Substitution - coding silent(1)	p.K69K(1)	endometrium(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(205-207)aaA>aaG		myosin, heavy chain 15							212	197	202					3																	108224618		1876	4133	6009	SO:0001819	synonymous_variant	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108224618T>C	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.207A>G	3.37:g.108224618T>C							p.K69K	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			3	263	-			69			Myosin head-like.			Silent	SNP	ENST00000273353.3	37	c.207A>G	CCDS43127.1																																																																																				0.348	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		3	244	0	0	0	1	0	3	244					C	108224618	T	C	108224618	2	2	23	1	0	0	0	0	0	0	0	1	10034	1606	56	3		3	MYH15	3	108224618	Silent	SNP	T	TCGA-BJ-A28X-01A-11D-A22D-08	8656345	108224618	89797812	6	613											
HGFAC	3083	broad.mit.edu	37	chr4	3443797	3443797	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ggccccttcctcctcctcctCctgctgctgctgctgctgcc	8	21	0	0	rs538844201	byFrequency	TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr4:3443797C>G	ENST00000382774.3	+	1	184	c.69C>G	c.(67-69)ctC>ctG	p.L23L	HGFAC_ENST00000511533.1_Silent_p.L23L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	23					proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCCTCCTCCTCCTGCTGCTGC	0.716													C|||	2	0.000399361	8e-04	0	5008	,	,		13350	0		0	False		,,,				2504	0.001					ENST00000382774.3																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(67-69)ctC>ctG		HGF activator							13	16	15					4																	3443797		1723	3604	5327	SO:0001819	synonymous_variant	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3443797C>G	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.69C>G	4.37:g.3443797C>G						HGFAC_ENST00000511533.1_Silent_p.L23L	p.L23L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	184	+			23					Q14726|Q2M1W7|Q53X47	Silent	SNP	ENST00000382774.3	37	c.69C>G	CCDS3369.1																																																																																				0.716	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			3	46	0	0	0	1	0	3	46					G	3443797	C	G	3443797	2	3	23	1	0	0	0	0	0	0	0	1	7086	842	30	4		4	HGFAC	4	3443797	Silent	SNP	C	TCGA-BJ-A28X-01A-11D-A22D-08		3443797	187710479	7	614											
ANKRD56	345079	broad.mit.edu	37	chr4	77818090	77818092	+	In_Frame_Del	DEL	GCT	GCT	-													ggccacccactctcgagtgcGctgctgctgctgctgcaggg							TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr4:77818090_77818092delGCT	ENST00000334306.2	-	1	910_912	c.911_913delAGC	c.(910-915)cagcgc>cgc	p.Q304del		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	304	Poly-Gln.																TCTCGAGTGCGCTGCTGCTGCTG	0.709																																						ENST00000334306.2																			0											c.(910-915)cgc>c		sosondowah ankyrin repeat domain family member B				127,58,3813		12,0,103,3,52,1829						4.2	1.0		dbSNP_134	13	6,92,7838		1,0,4,7,78,3878	no	codingComplex	ANKRD56	NM_001029870.1		13,0,107,10,130,5707	A1A1,A1A2,A1R,A2A2,A2R,RR		1.2349,4.6273,2.3714				133,150,11651				SO:0001651	inframe_deletion	345079							g.chr4:77818090_77818092delGCT		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"Ankyrin repeat domain containing"	32958	protein-coding gene	gene with protein product			"ankyrin repeat domain 56"	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.911_913delAGC	4.37:g.77818099_77818101delGCT	ENSP00000334879:p.Gln304del						p.QR304del	NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN			1	910_912	-			304			Poly-Gln.		B2RP29	In_Frame_Del	DEL	ENST00000334306.2	37	c.911_913delAGC	CCDS34017.1																																																																																				0.709	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		7	43						7	43	---	---	---	---	-	77818092	GCT	-	77818090	7	5	23	1	0	1	0	1	0	0	0	0	682	1087	38	0	1472	0	ANKRD56	4	77818090	In_Frame_Del	DEL	GCT	TCGA-BJ-A28X-01A-11D-A22D-08	74374293	77818090	113336186	8	615											
RNF180	285671	broad.mit.edu	37	chr5	63509810	63509810	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcttgtgactggcagatgCgctacaagagcttttcatag	11	9	1	3	rs148816984	byFrequency	TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr5:63509810C>T	ENST00000389100.4	+	4	729	c.657C>T	c.(655-657)tgC>tgT	p.C219C	RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Silent_p.C219C	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	219					adult behavior (GO:0030534)|norepinephrine metabolic process (GO:0042415)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|regulation of catalytic activity (GO:0050790)|serotonin metabolic process (GO:0042428)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		CTGGCAGATGCGCTACAAGAG	0.378													C|||	6	0.00119808	0	0.0029	5008	,	,		18622	0		0.003	False		,,,				2504	0.001					ENST00000389100.4																			0				breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(655-657)tgC>tgT		ring finger protein 180		C	,	4,4402	8.1+/-20.4	0,4,2199	60	68	65		657,657	1.4	0.1	5	dbSNP_134	65	60,8540	38.3+/-94.2	0,60,4240	no	coding-synonymous,coding-synonymous	RNF180	NM_001113561.1,NM_178532.3	,	0,64,6439	TT,TC,CC		0.6977,0.0908,0.4921	,	219/593,219/417	63509810	64,12942	2203	4300	6503	SO:0001819	synonymous_variant	285671					integral to membrane|nuclear envelope	zinc ion binding	g.chr5:63509810C>T	AK090756	CCDS34169.1, CCDS47219.1	5q12.3	2013-01-09			ENSG00000164197	ENSG00000164197		"RING-type (C3HC4) zinc fingers"	27752	protein-coding gene	gene with protein product							Standard	NM_178532		Approved		uc003jti.3	Q86T96	OTTHUMG00000162278	ENST00000389100.4:c.657C>T	5.37:g.63509810C>T						RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Silent_p.C219C	p.C219C	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN		Lung(70;0.114)	4	729	+		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)	219					Q0JSU3|Q495A8|Q8NBD1	Silent	SNP	ENST00000389100.4	37	c.657C>T	CCDS47219.1																																																																																				0.378	RNF180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368394.1	NM_178532		28	100	0	0	0	1	0	28	100					T	63509810	C	T	63509810	2	4	23	1	0	0	0	0	0	0	0	1	13464	776	27	1		1	RNF180	5	63509810	Silent	SNP	C	TCGA-BJ-A28X-01A-11D-A22D-08		63509810	117405450	9	616											
ZNF608	57507	broad.mit.edu	37	chr5	124079813	124079815	+	In_Frame_Del	DEL	CTC	CTC	-													ttcttgattcgcctgtggctCtcctcctcctcctcttcctt							TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr5:124079813_124079815delCTC	ENST00000306315.5	-	1	1303_1305	c.868_870delGAG	c.(868-870)gagdel	p.E290del	ZNF608_ENST00000504926.1_Intron	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	290							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)		GCCTGTGGCTCTCCTCCTCCTCC	0.522																																						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.(868-870)del		zinc finger protein 608																																				SO:0001651	inframe_deletion	57507					intracellular	zinc ion binding	g.chr5:124079813_124079815delCTC	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.868_870delGAG	5.37:g.124079822_124079824delCTC	ENSP00000307746:p.Glu290del					ZNF608_ENST00000504926.1_Intron	p.E290del	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)	1	1303_1305	-		all_cancers(142;0.186)|Prostate(80;0.081)	290					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	In_Frame_Del	DEL	ENST00000306315.5	37	c.868_870delGAG	CCDS34219.1																																																																																				0.522	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		7	368						7	368	---	---	---	---	-	124079815	CTC	-	124079813	7	5	23	1	0	1	0	1	0	0	0	0	18031	912	32	0	3704	0	ZNF608	5	124079813	In_Frame_Del	DEL	CTC	TCGA-BJ-A28X-01A-11D-A22D-08	60570003	124079813	56835447	10	617											
PRRC1	133619	broad.mit.edu	37	chr5	126887496	126887496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtttactgaatgtcagccGgactgattggcacatggcat	12	8	1	2			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr5:126887496G>A	ENST00000296666.8	+	9	1414	c.1226G>A	c.(1225-1227)cGg>cAg	p.R409Q	PRRC1_ENST00000513427.1_3'UTR|PRRC1_ENST00000512635.2_Missense_Mutation_p.R409Q|PRRC1_ENST00000442138.2_3'UTR	NM_130809.3	NP_570721.1	Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	409						Golgi apparatus (GO:0005794)				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		AATGTCAGCCGGACTGATTGG	0.527																																						ENST00000296666.8																			0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(1225-1227)cGg>cAg		proline-rich coiled-coil 1							99	99	99					5																	126887496		2203	4300	6503	SO:0001583	missense	133619					Golgi apparatus		g.chr5:126887496G>A	AJ515429	CCDS4143.1, CCDS68943.1	5q23.2	2008-02-05			ENSG00000164244	ENSG00000164244			28164	protein-coding gene	gene with protein product						15541471	Standard	NM_130809		Approved	FLJ32875	uc003kuk.3	Q96M27	OTTHUMG00000128982	ENST00000296666.8:c.1226G>A	5.37:g.126887496G>A	ENSP00000296666:p.Arg409Gln					PRRC1_ENST00000512635.2_Missense_Mutation_p.R409Q|PRRC1_ENST00000513427.1_3'UTR|PRRC1_ENST00000442138.2_3'UTR	p.R409Q	NM_130809.3	NP_570721.1	Q96M27	PRRC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)	9	1414	+		Prostate(80;0.165)	409					Q69YM8|Q7L2U7|Q86Y42|Q8IVJ4|Q8IVL4|Q8NEZ7|Q96AJ3	Missense_Mutation	SNP	ENST00000296666.8	37	c.1226G>A	CCDS4143.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232150	0.79688	.	.	ENSG00000164244	ENST00000296666;ENST00000330542;ENST00000512635;ENST00000512535	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.49864	0.1582	L	0.48362	1.52	0.80722	D	1	B	0.33135	0.399	B	0.16722	0.016	T	0.50825	-0.8782	9	0.44086	T	0.13	-16.3773	18.2643	0.90048	0.0:0.0:1.0:0.0	.	409	Q96M27	PRRC1_HUMAN	Q	409	.	ENSP00000296666:R409Q	R	+	2	0	PRRC1	126915395	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.802000	0.85969	2.788000	0.95919	0.557000	0.71058	CGG		0.527	PRRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250971.3	NM_130809		3	115	0	0	0	1	0	3	115					A	126887496	G	A	126887496	3	1	23	1	0	0	0	0	1	0	0	0	12604	1116	39	1	1256	1	PRRC1	5	126887496	Missense_Mutation	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08	2807683	126887496	54027764	11	618											
PCDHB5	26167	broad.mit.edu	37	chr5	140516096	140516096	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctaccccagaaaatgccccGgaaactgtagttgccgtttt	8	13	0	1			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr5:140516096G>A	ENST00000231134.5	+	1	1297	c.1080G>A	c.(1078-1080)ccG>ccA	p.P360P		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	360	Cadherin 4. {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)	p.P360P(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAATGCCCCGGAAACTGTAG	0.502																																						ENST00000231134.5																			1	Substitution - coding silent(1)	p.P360P(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(1078-1080)ccG>ccA									81	88	86					5																	140516096		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516096G>A	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"Cadherins / Protocadherins : Clustered"	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1080G>A	5.37:g.140516096G>A							p.P360P	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1297	+			360			Cadherin 4.		Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	c.1080G>A	CCDS4247.1																																																																																				0.502	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		3	159	0	0	0	1	0	3	159					A	140516096	G	A	140516096	2	1	23	1	0	0	0	0	0	0	0	1	11545	1103	39	1		1	PCDHB5	5	140516096	Silent	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08	13628600	140516096	40399164	12	619											
PCDHB7	56129	broad.mit.edu	37	chr5	140553994	140553994	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactacgaggccctgcaggcGttcgagttccgcgtgggcgc	16	13	0	0	rs374392843		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	526	Cadherin 5. {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)	p.A526A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCAGGCGTTCGAGTTCC	0.706													g|||	1	0.000199681	0	0	5008	,	,		16269	0		0.001	False		,,,				2504	0					ENST00000231137.3																			1	Substitution - coding silent(1)	p.A526A(1)	lung(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1576-1578)gcG>gcT									62	68	66					5																	140553994		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553994G>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1578G>T	5.37:g.140553994G>T							p.A526A	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1752	+			526			Cadherin 5.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1578G>T	CCDS4249.1																																																																																				0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		3	146	1	0	1	1	1	3	146					T	140553994	G	T	140553994	2	4	23	1	0	0	0	0	0	0	0	1	11547	1132	40	4		4	PCDHB7	5	140553994	Silent	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08	37898	140553994	40361266	13	620											
CTTNBP2	83992	broad.mit.edu	37	chr7	117368303	117368303	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacacaggatcgcagggggAgggcgcctgacctttgaact	15	11	0	2			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr7:117368303A>G	ENST00000160373.3	-	17	3986	c.3895T>C	c.(3895-3897)Tcc>Ccc	p.S1299P		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1299					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TCGCAGGGGGAGGGCGCCTGA	0.512																																						ENST00000160373.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(3895-3897)Tcc>Ccc		cortactin binding protein 2							79	90	86					7																	117368303		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117368303A>G		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.3895T>C	7.37:g.117368303A>G	ENSP00000160373:p.Ser1299Pro						p.S1299P	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	17	3986	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		1299					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.3895T>C	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.572|7.572	0.666994|0.666994	0.14710|0.14710	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000446636|ENST00000160373	.|D	.|0.90788	.|-2.73	5.22|5.22	1.42|1.42	0.22433|0.22433	.|.	.|0.446324	.|0.26143	.|N	.|0.026099	D|D	0.85526|0.85526	0.5717|0.5717	L|L	0.58669|0.58669	1.825|1.825	0.23515|0.23515	N|N	0.997519|0.997519	.|B	.|0.11235	.|0.004	.|B	.|0.10450	.|0.005	T|T	0.74466|0.74466	-0.3656|-0.3656	5|10	.|0.46703	.|T	.|0.11	22.8976|22.8976	5.3613|5.3613	0.16089|0.16089	0.4928:0.3126:0.1945:0.0|0.4928:0.3126:0.1945:0.0	.|.	.|1299	.|Q8WZ74	.|CTTB2_HUMAN	P|P	786|1299	.|ENSP00000160373:S1299P	.|ENSP00000160373:S1299P	L|S	-|-	2|1	0|0	CTTNBP2|CTTNBP2	117155539|117155539	0.997000|0.997000	0.39634|0.39634	0.176000|0.176000	0.23000|0.23000	0.378000|0.378000	0.30076|0.30076	1.390000|1.390000	0.34464|0.34464	0.053000|0.053000	0.16036|0.16036	-0.280000|-0.280000	0.10049|0.10049	CTC|TCC		0.512	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		3	237	0	0	0	1	0	3	237					G	117368303	A	G	117368303	3	3	23	1	0	0	0	0	1	0	0	0	4045	304	11	3	1124	3	CTTNBP2	7	117368303	Missense_Mutation	SNP	A	TCGA-BJ-A28X-01A-11D-A22D-08		117368303	41770360	14	621											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		29	134	0	0	0	1	0	29	134					T	140453136	A	T	140453136	3	4	23	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A28X-01A-11D-A22D-08	23084833	140453136	18685527	15	622											
GIMAP8	155038	broad.mit.edu	37	chr7	150163814	150163814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcagagctgccagatgtccGaactgcggctcctcctcctg	11	15	0	2	rs143529569		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr7:150163814G>A	ENST00000307271.3	+	2	602	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	10	AIG1-type G 1.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.E10K(2)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CCAGATGTCCGAACTGCGGCT	0.507																																						ENST00000307271.3																			2	Substitution - Missense(2)	p.E10K(2)	large_intestine(1)|skin(1)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62						c.(28-30)Gaa>Aaa		GTPase, IMAP family member 8							48	51	50					7																	150163814		2203	4300	6503	SO:0001583	missense	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150163814G>A	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"GTPases, IMAP"	21792	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 9"					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.28G>A	7.37:g.150163814G>A	ENSP00000305107:p.Glu10Lys						p.E10K	NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	2	602	+			10						Missense_Mutation	SNP	ENST00000307271.3	37	c.28G>A	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271644	0.59649	.	.	ENSG00000171115	ENST00000307271	T	0.61274	0.12	4.48	-5.23	0.02798	.	1.488750	0.04286	N	0.344696	T	0.49541	0.1563	L	0.50847	1.595	0.09310	N	1	D	0.67145	0.996	P	0.49683	0.619	T	0.50676	-0.8800	10	0.18710	T	0.47	.	1.8855	0.03237	0.3116:0.3671:0.1974:0.1239	.	10	Q8ND71	GIMA8_HUMAN	K	10	ENSP00000305107:E10K	ENSP00000305107:E10K	E	+	1	0	GIMAP8	149794747	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.230000	0.17852	-1.051000	0.03226	-0.844000	0.03045	GAA		0.507	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		3	99	0	0	0	1	0	3	99					A	150163814	G	A	150163814	3	1	23	1	0	0	0	0	1	0	0	0	6385	1059	37	1	30	1	GIMAP8	7	150163814	Missense_Mutation	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08	9710678	150163814	8974849	16	623											
SETX	23064	broad.mit.edu	37	chr9	135173645	135173645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagttcgtttaaattggccGgaaagttctcttgagtctgg	11	7	2	1	rs370368422		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr9:135173645G>A	ENST00000224140.5	-	13	5785	c.5603C>T	c.(5602-5604)cCg>cTg	p.P1868L	SETX_ENST00000393220.1_Missense_Mutation_p.P1868L|SETX_ENST00000372169.2_Missense_Mutation_p.P1868L	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1868					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TAAATTGGCCGGAAAGTTCTC	0.388																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(5602-5604)cCg>cTg		senataxin		G	LEU/PRO	0,4406		0,0,2203	98	95	96		5603	5.7	0.1	9		96	1,8599	1.2+/-3.3	0,1,4299	no	missense	SETX	NM_015046.5	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1868/2678	135173645	1,13005	2203	4300	6503	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135173645G>A	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.5603C>T	9.37:g.135173645G>A	ENSP00000224140:p.Pro1868Leu					SETX_ENST00000393220.1_Missense_Mutation_p.P1868L|SETX_ENST00000224140.5_Missense_Mutation_p.P1868L	p.P1868L			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	13	5785	-		Myeloproliferative disorder(178;0.204)	1868					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.5603C>T	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471479	0.63737	0.0	1.16E-4	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.90197	-2.08;-2.63;-2.17;-1.8	5.72	5.72	0.89469	.	0.189487	0.37219	N	0.002192	D	0.88724	0.6514	L	0.29908	0.895	0.37388	D	0.912315	B;D;D	0.63880	0.042;0.987;0.993	B;P;P	0.51079	0.019;0.456;0.658	D	0.87891	0.2684	10	0.23302	T	0.38	.	16.5947	0.84792	0.0:0.0:1.0:0.0	.	1868;1868;1868	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	L	1868;110;1868;1868	ENSP00000224140:P1868L;ENSP00000409143:P110L;ENSP00000361242:P1868L;ENSP00000376913:P1868L	ENSP00000224140:P1868L	P	-	2	0	SETX	134163466	0.589000	0.26807	0.092000	0.20876	0.761000	0.43186	2.864000	0.48404	2.696000	0.92011	0.591000	0.81541	CCG		0.388	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		3	106	0	0	0	1	0	3	106					A	135173645	G	A	135173645	3	1	23	1	0	0	0	0	1	0	0	0	14141	1116	39	1	2486	1	SETX	9	135173645	Missense_Mutation	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08		135173645	6039786	17	624											
TNKS2	80351	broad.mit.edu	37	chr10	93601945	93601946	+	Frame_Shift_Ins	INS	-	-	A													tagcatggtgcagaccctacINSaaaaaaaaacagggatggaa							TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr10:93601945_93601946insA	ENST00000371627.4	+	16	2235_2236	c.1856_1857insA	c.(1855-1860)acaaaafs	p.TK619fs		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	619					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.N622fs*29(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GCAGACCCTACAAAAAAAAACA	0.391																																						ENST00000371627.4																			1	Deletion - Frameshift(1)	p.N622fs*29(1)	large_intestine(1)	biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48						c.(1855-1857)aaafs		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2																																				SO:0001589	frameshift_variant	80351				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr10:93601945_93601946insA	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.1865dupA	10.37:g.93601954_93601954dupA	ENSP00000360689:p.Thr619fs						p.K619fs	NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN			16	2235_2236	+		Colorectal(252;0.162)	619					B2RBD3|Q9H8F2|Q9HAS4	Frame_Shift_Ins	INS	ENST00000371627.4	37	c.1856_1857insA	CCDS7417.1																																																																																				0.391	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235		8	92						8	92	---	---	---	---	A	93601946	-	A	93601945	7	5	23	1	0	1	1	0	0	0	0	0	16318	478	17	0	1918	0	TNKS2	10	93601945	Frame_Shift_Ins	INS	-	TCGA-BJ-A28X-01A-11D-A22D-08		93601945	41932802	18	625											
KBTBD4	55709	broad.mit.edu	37	chr11	47599139	47599139	+	Frame_Shift_Del	DEL	A	A	-													ccacttgcactgtgcgggccAaaaaccgagagcattcctca							TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr11:47599139delA	ENST00000526005.1	-	2	566	c.413delT	c.(412-414)ttgfs	p.L138fs	NDUFS3_ENST00000529276.1_5'Flank|NDUFS3_ENST00000528192.1_5'Flank|KBTBD4_ENST00000430070.2_Frame_Shift_Del_p.L154fs|RNU5E-10P_ENST00000363506.1_RNA|KBTBD4_ENST00000450908.1_5'Flank|KBTBD4_ENST00000533290.1_Frame_Shift_Del_p.L163fs|NDUFS3_ENST00000534208.1_5'Flank|KBTBD4_ENST00000525720.1_Frame_Shift_Del_p.L187fs|NDUFS3_ENST00000533507.1_Intron|NDUFS3_ENST00000263774.4_5'Flank|KBTBD4_ENST00000395288.2_Frame_Shift_Del_p.L138fs|NDUFS3_ENST00000534716.2_5'Flank			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	138										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						TGTGCGGGCCAAAAACCGAGA	0.517																																						ENST00000533290.1																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						c.(487-489)tgfs		kelch repeat and BTB (POZ) domain containing 4							174	172	173					11																	47599139		2201	4298	6499	SO:0001589	frameshift_variant	55709							g.chr11:47599139delA	AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"BTB/POZ domain containing"	23761	protein-coding gene	gene with protein product			"BTB and kelch domain containing 4"	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.413delT	11.37:g.47599139delA	ENSP00000433340:p.Leu138fs					KBTBD4_ENST00000395288.2_Frame_Shift_Del_p.L138fs|KBTBD4_ENST00000526005.1_Frame_Shift_Del_p.L138fs|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000525720.1_Frame_Shift_Del_p.L187fs|KBTBD4_ENST00000430070.2_Frame_Shift_Del_p.L154fs	p.L163fs			Q9NVX7	KBTB4_HUMAN			1	1202	-			138			BACK.		D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Frame_Shift_Del	DEL	ENST00000526005.1	37	c.488delT	CCDS7940.1																																																																																				0.517	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000391763.1	NM_016506		9	449						9	449	---	---	---	---	-	47599139	A	-	47599139	7	5	23	1	0	1	0	1	0	0	0	0	7995	131	5	0	1155	0	KBTBD4	11	47599139	Frame_Shift_Del	DEL	A	TCGA-BJ-A28X-01A-11D-A22D-08		47599139	87407377	19	626											
CNTF	1270	broad.mit.edu	37	chr11	58390308	58390308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggctagcaaggaagattcGttcagacctgactgctctta	10	10	2	3	rs139149169		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr11:58390308G>A	ENST00000361987.4	+	1	163	c.83G>A	c.(82-84)cGt>cAt	p.R28H	ZFP91-CNTF_ENST00000389919.4_3'UTR	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN	ciliary neurotrophic factor	28					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|growth (GO:0040007)|muscle organ morphogenesis (GO:0048644)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of photoreceptor cell differentiation (GO:0046533)|neuron development (GO:0048666)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of retinal cell programmed cell death (GO:0046668)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AGGAAGATTCGTTCAGACCTG	0.483													G|||	1	0.000199681	0	0	5008	,	,		18782	0		0.001	False		,,,				2504	0					ENST00000361987.4																			0				NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10						c.(82-84)cGt>cAt		ciliary neurotrophic factor		G	HIS/ARG	4,4398	6.2+/-15.9	0,4,2197	127	117	120		83	2.3	1.0	11	dbSNP_134	120	10,8580	7.7+/-29.5	0,10,4285	yes	missense	CNTF	NM_000614.3	29	0,14,6482	AA,AG,GG		0.1164,0.0909,0.1078	probably-damaging	28/201	58390308	14,12978	2201	4295	6496	SO:0001583	missense	1270				ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding	g.chr11:58390308G>A	BC068030	CCDS31554.1	11q12	2011-07-21			ENSG00000242689	ENSG00000242689			2169	protein-coding gene	gene with protein product		118945				1840538, 1714745	Standard	NM_000614		Approved	HCNTF	uc001nna.4	P26441	OTTHUMG00000137476	ENST00000361987.4:c.83G>A	11.37:g.58390308G>A	ENSP00000355370:p.Arg28His					ZFP91-CNTF_ENST00000389919.4_3'UTR	p.R28H	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN			1	163	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	28					B2RAB2	Missense_Mutation	SNP	ENST00000361987.4	37	c.83G>A	CCDS31554.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.953376	0.53293	9.09E-4	0.001164	ENSG00000242689	ENST00000361987	T	0.46063	0.88	5.16	2.3	0.28687	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	.	.	.	.	T	0.39784	0.1091	M	0.67953	2.075	0.35143	D	0.769012	B	0.20459	0.045	B	0.18871	0.023	T	0.47129	-0.9141	9	0.72032	D	0.01	-12.4163	8.7308	0.34498	0.2424:0.0:0.7576:0.0	.	28	P26441	CNTF_HUMAN	H	28	ENSP00000355370:R28H	ENSP00000447778:R28H	R	+	2	0	CNTF	58146884	1.000000	0.71417	0.996000	0.52242	0.495000	0.33615	2.425000	0.44723	0.439000	0.26476	-0.126000	0.14955	CGT		0.483	CNTF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268673.1	NM_000614		13	49	0	0	0	1	0	13	49					A	58390308	G	A	58390308	3	1	23	1	0	0	0	0	1	0	0	0	3637	1145	40	1	85	1	CNTF	11	58390308	Missense_Mutation	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08	10791169	58390308	76616208	20	627											
FAM111B	374393	broad.mit.edu	37	chr11	58892674	58892674	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacaagttagacggaggccGcatctgggtaggcggtatgc	15	9	2	1	rs371989300		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr11:58892674G>A	ENST00000343597.3	+	4	1295	c.1104G>A	c.(1102-1104)ccG>ccA	p.P368P	FAM111B_ENST00000411426.1_Silent_p.P338P|FAM111B_ENST00000529618.1_Silent_p.P338P	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	368							catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						GACGGAGGCCGCATCTGGGTA	0.383																																						ENST00000343597.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						c.(1102-1104)ccG>ccA		family with sequence similarity 111, member B		G	,,	1,4401	2.1+/-5.4	0,1,2200	68	75	73		1014,1014,1104	-0.8	0.0	11		73	0,8588		0,0,4294	no	coding-synonymous,coding-synonymous,coding-synonymous	FAM111B	NM_001142703.1,NM_001142704.1,NM_198947.3	,,	0,1,6494	AA,AG,GG		0.0,0.0227,0.0077	,,	338/705,338/705,368/735	58892674	1,12989	2201	4294	6495	SO:0001819	synonymous_variant	374393						catalytic activity	g.chr11:58892674G>A	BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.1104G>A	11.37:g.58892674G>A						FAM111B_ENST00000529618.1_Silent_p.P338P|FAM111B_ENST00000411426.1_Silent_p.P338P	p.P368P	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN			4	1295	+			368					B4E2G2|Q6P661	Silent	SNP	ENST00000343597.3	37	c.1104G>A	CCDS7972.1																																																																																				0.383	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947		4	229	0	0	0	1	0	4	229					A	58892674	G	A	58892674	2	1	23	1	0	0	0	0	0	0	0	1	5400	1074	38	1		1	FAM111B	11	58892674	Silent	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08	502366	58892674	76113842	21	628											
OSBP	5007	broad.mit.edu	37	chr11	59377967	59377967	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtaggtctgagcacccccaTtggaaatgatgaagttgcag	13	8	1	3			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr11:59377967T>C	ENST00000263847.1	-	2	937	c.458A>G	c.(457-459)aAt>aGt	p.N153S		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	153	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	oxysterol binding (GO:0008142)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		AGCACCCCCATTGGAAATGAT	0.537																																						ENST00000263847.1																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(457-459)aAt>aGt		oxysterol binding protein							169	150	156					11																	59377967		2201	4295	6496	SO:0001583	missense	5007				lipid transport	Golgi membrane	oxysterol binding	g.chr11:59377967T>C	AF185696	CCDS7974.1	11q12-q13	2013-01-10			ENSG00000110048	ENSG00000110048		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	8503	protein-coding gene	gene with protein product		167040					Standard	NM_002556		Approved	OSBP1	uc001noc.1	P22059	OTTHUMG00000167422	ENST00000263847.1:c.458A>G	11.37:g.59377967T>C	ENSP00000263847:p.Asn153Ser						p.N153S	NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	2	937	-		all_epithelial(135;0.000236)	153			PH.		Q6P524	Missense_Mutation	SNP	ENST00000263847.1	37	c.458A>G	CCDS7974.1	.	.	.	.	.	.	.	.	.	.	T	10.82	1.457043	0.26161	.	.	ENSG00000110048	ENST00000263847	T	0.75704	-0.96	5.68	4.56	0.56223	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.145690	0.64402	D	0.000008	T	0.61464	0.2349	N	0.11364	0.135	0.58432	D	0.999991	B	0.27286	0.174	B	0.42916	0.402	T	0.51733	-0.8668	10	0.07482	T	0.82	-25.4067	11.3214	0.49424	0.0:0.072:0.0:0.928	.	153	P22059	OSBP1_HUMAN	S	153	ENSP00000263847:N153S	ENSP00000263847:N153S	N	-	2	0	OSBP	59134543	1.000000	0.71417	0.989000	0.46669	0.669000	0.39330	6.290000	0.72712	0.979000	0.38497	-0.256000	0.11100	AAT		0.537	OSBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394555.1			41	119	0	0	0	1	0	41	119					C	59377967	T	C	59377967	3	2	23	1	0	0	0	0	1	0	0	0	11273	1493	52	3	2017	3	OSBP	11	59377967	Missense_Mutation	SNP	T	TCGA-BJ-A28X-01A-11D-A22D-08	485293	59377967	75628549	22	629											
CD4	920	broad.mit.edu	37	chr12	6927643	6927643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgattgtgctggggggcGtcgccggcctcctgcttttc	14	14	0	1			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr12:6927643G>A	ENST00000011653.4	+	8	1471	c.1213G>A	c.(1213-1215)Gtc>Atc	p.V405I		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	405					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)	GCTGGGGGGCGTCGCCGGCCT	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.(1213-1215)Gtc>Atc		CD4 molecule							81	76	78					12																	6927643		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.chr12:6927643G>A	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.1213G>A	12.37:g.6927643G>A	ENSP00000011653:p.Val405Ile						p.V405I	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			8	1471	+		Myeloproliferative disorder(1001;0.0122)	405					B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Missense_Mutation	SNP	ENST00000011653.4	37	c.1213G>A	CCDS8562.1	.	.	.	.	.	.	.	.	.	.	G	0.464	-0.887456	0.02511	.	.	ENSG00000010610	ENST00000011653	T	0.22134	1.97	4.23	-7.83	0.01201	.	5.286540	0.00357	N	0.000031	T	0.07954	0.0199	N	0.12746	0.255	0.09310	N	0.999999	B;P	0.35226	0.024;0.491	B;B	0.22753	0.003;0.041	T	0.14504	-1.0470	10	0.19147	T	0.46	-6.7019	6.0682	0.19875	0.5671:0.0:0.1977:0.2352	.	226;405	B0AZV7;P01730	.;CD4_HUMAN	I	405	ENSP00000011653:V405I	ENSP00000011653:V405I	V	+	1	0	CD4	6797904	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.849000	0.01672	-2.457000	0.00539	-1.108000	0.02087	GTC		0.622	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		4	145	0	0	0	1	0	4	145					A	6927643	G	A	6927643	3	1	23	1	0	0	0	0	1	0	0	0	3014	1145	40	1	1239	1	CD4	12	6927643	Missense_Mutation	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08		6927643	126924252	23	630											
OR6C3	254786	broad.mit.edu	37	chr12	55725701	55725701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaaatctcatttacaaccGtatgcatccccagatttctg	5	11	2	2	rs139430640	byFrequency	TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr12:55725701G>A	ENST00000379667.1	+	1	217	c.217G>A	c.(217-219)Gta>Ata	p.V73I		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	73					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)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						ATTTACAACCGTATGCATCCC	0.428																																						ENST00000379667.1																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						c.(217-219)Gta>Ata		olfactory receptor, family 6, subfamily C, member 3			ILE/VAL	0,4406		0,0,2203	95	105	102		217	4.1	0.4	12	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR6C3	NM_054104.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	73/312	55725701	1,13005	2203	4300	6503	SO:0001583	missense	254786				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55725701G>A	AF179770	CCDS31819.1	12q13.2	2013-09-23			ENSG00000205329	ENSG00000205329		"GPCR / Class A : Olfactory receptors"	15437	protein-coding gene	gene with protein product							Standard	NM_054104		Approved	OST709	uc010spj.2	Q9NZP0	OTTHUMG00000169861	ENST00000379667.1:c.217G>A	12.37:g.55725701G>A	ENSP00000368989:p.Val73Ile						p.V73I	NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN			1	217	+			73						Missense_Mutation	SNP	ENST00000379667.1	37	c.217G>A	CCDS31819.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.446486	0.43429	0.0	1.16E-4	ENSG00000205329	ENST00000379667	T	0.01234	5.13	5.02	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.158118	0.29424	N	0.012191	T	0.02047	0.0064	L	0.45581	1.43	0.09310	N	1	D	0.54772	0.968	P	0.46629	0.522	T	0.49303	-0.8954	10	0.49607	T	0.09	.	6.1286	0.20194	0.1514:0.0:0.6839:0.1648	.	73	Q9NZP0	OR6C3_HUMAN	I	73	ENSP00000368989:V73I	ENSP00000368989:V73I	V	+	1	0	OR6C3	54011968	0.000000	0.05858	0.410000	0.26471	0.610000	0.37248	0.690000	0.25451	2.771000	0.95319	0.461000	0.40582	GTA		0.428	OR6C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406309.1			4	149	0	0	0	1	0	4	149					A	55725701	G	A	55725701	3	1	23	1	0	0	0	0	1	0	0	0	11192	1145	40	1	219	1	OR6C3	12	55725701	Missense_Mutation	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08	48798058	55725701	78126194	24	631											
LEMD3	23592	broad.mit.edu	37	chr12	65564560	65564560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccaataatcatattggcgGtggggccttcagtgtggact	12	8	2	0			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr12:65564560G>A	ENST00000308330.2	+	1	1210	c.1184G>A	c.(1183-1185)gGt>gAt	p.G395D	LEMD3_ENST00000541171.1_Intron	NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	395					negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		CATATTGGCGGTGGGGCCTTC	0.537																																						ENST00000308330.2																			0				breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1183-1185)gGt>gAt		LEM domain containing 3							62	71	68					12																	65564560		2203	4300	6503	SO:0001583	missense	23592				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding	g.chr12:65564560G>A	AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.1184G>A	12.37:g.65564560G>A	ENSP00000308369:p.Gly395Asp					LEMD3_ENST00000541171.1_Intron	p.G395D	NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)	1	1210	+			395					Q9NT47|Q9NYA5	Missense_Mutation	SNP	ENST00000308330.2	37	c.1184G>A	CCDS8972.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.997963	0.35226	.	.	ENSG00000174106	ENST00000308330	T	0.51817	0.69	3.96	3.04	0.35103	.	0.413267	0.21710	N	0.070297	T	0.29945	0.0749	N	0.19112	0.55	0.29690	N	0.841036	B	0.27559	0.181	B	0.21151	0.033	T	0.14896	-1.0456	9	.	.	.	-1.5237	13.0416	0.58901	0.0:0.164:0.836:0.0	.	395	Q9Y2U8	MAN1_HUMAN	D	395	ENSP00000308369:G395D	.	G	+	2	0	LEMD3	63850827	1.000000	0.71417	0.896000	0.35187	0.803000	0.45373	4.204000	0.58460	1.203000	0.43233	0.462000	0.41574	GGT		0.537	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2			4	180	0	0	0	1	0	4	180					A	65564560	G	A	65564560	3	1	23	1	0	0	0	0	1	0	0	0	8721	1261	44	2	1186	2	LEMD3	12	65564560	Missense_Mutation	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08	9838859	65564560	68287335	25	632											
ADCY4	196883	broad.mit.edu	37	chr14	24798362	24798362	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaggtaacgggtcatcaGcagtgatggacgcatcttga	12	10	3	2			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr14:24798362G>A	ENST00000310677.4	-	11	1542	c.1429C>T	c.(1429-1431)Ctg>Ttg	p.L477L	ADCY4_ENST00000554068.2_Silent_p.L477L|ADCY4_ENST00000418030.2_Silent_p.L477L|ADCY4_ENST00000396747.3_Silent_p.L170L	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	477					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)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|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)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CGGGTCATCAGCAGTGATGGA	0.622																																						ENST00000310677.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1429-1431)Ctg>Ttg		adenylate cyclase 4							132	122	125					14																	24798362		2203	4300	6503	SO:0001819	synonymous_variant	196883				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	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24798362G>A	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"Adenylate cyclases"	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.1429C>T	14.37:g.24798362G>A						ADCY4_ENST00000396747.3_Silent_p.L170L|ADCY4_ENST00000554068.2_Silent_p.L477L|ADCY4_ENST00000418030.2_Silent_p.L477L	p.L477L	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	11	1542	-			477					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	ENST00000310677.4	37	c.1429C>T	CCDS9627.1																																																																																				0.622	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			3	96	0	0	0	1	0	3	96					A	24798362	G	A	24798362	2	1	23	1	0	0	0	0	0	0	0	1	296	962	34	2		2	ADCY4	14	24798362	Silent	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08		24798362	82551178	26	633											
C14orf135	64430	broad.mit.edu	37	chr14	60591629	60591629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacttagtatgcttacccGcagagtggaggactagctgt	11	10	1	1	rs141333786		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr14:60591629G>A	ENST00000406854.1	+	9	3294	c.2740G>A	c.(2740-2742)Gca>Aca	p.A914T	PCNXL4_ENST00000404681.2_Missense_Mutation_p.A914T|PCNXL4_ENST00000317623.4_Missense_Mutation_p.A680T|PCNXL4_ENST00000406949.1_Missense_Mutation_p.A680T|PCNXL4_ENST00000535349.1_Missense_Mutation_p.A121T			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	914						integral component of membrane (GO:0016021)											ATGCTTACCCGCAGAGTGGAG	0.433																																						ENST00000406854.1																			0											c.(2740-2742)Gca>Aca		pecanex-like 4 (Drosophila)		G	THR/ALA	0,4406		0,0,2203	105	110	109		2038	2.1	0.9	14	dbSNP_134	109	1,8599	1.2+/-3.3	0,1,4299	no	missense	C14orf135	NM_022495.5	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	680/939	60591629	1,13005	2203	4300	6503	SO:0001583	missense	64430							g.chr14:60591629G>A	AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 135"	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.2740G>A	14.37:g.60591629G>A	ENSP00000384801:p.Ala914Thr					PCNXL4_ENST00000406949.1_Missense_Mutation_p.A680T|PCNXL4_ENST00000404681.2_Missense_Mutation_p.A914T|PCNXL4_ENST00000535349.1_Missense_Mutation_p.A121T|PCNXL4_ENST00000317623.4_Missense_Mutation_p.A680T	p.A914T							9	3294	+								A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	ENST00000406854.1	37	c.2740G>A		.	.	.	.	.	.	.	.	.	.	G	6.817	0.519841	0.13005	0.0	1.16E-4	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681;ENST00000535349	T;T;T;T;T	0.29397	1.99;1.99;1.99;1.99;1.57	4.99	2.08	0.27032	.	0.485632	0.24740	N	0.035983	T	0.10809	0.0264	N	0.08118	0	0.19300	N	0.999974	B;B	0.32620	0.065;0.378	B;B	0.19148	0.002;0.024	T	0.28586	-1.0039	10	0.15952	T	0.53	.	7.0604	0.25123	0.1459:0.2644:0.5897:0.0	.	914;680	Q63HM2;B5MC47	CN135_HUMAN;.	T	680;914;680;914;121	ENSP00000317396:A680T;ENSP00000384801:A914T;ENSP00000385201:A680T;ENSP00000385713:A914T;ENSP00000445644:A121T	ENSP00000317396:A680T	A	+	1	0	C14orf135	59661382	0.980000	0.34600	0.924000	0.36721	0.710000	0.40934	1.970000	0.40520	0.210000	0.20664	0.305000	0.20034	GCA		0.433	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		4	217	0	0	0	1	0	4	217					A	60591629	G	A	60591629	3	1	23	1	0	0	0	0	1	0	0	0	1745	1087	38	1	2064	1	C14orf135	14	60591629	Missense_Mutation	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08	35793267	60591629	46757911	27	634											
C14orf145	145508	broad.mit.edu	37	chr14	81251451	81251451	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttttgcctgtgcagtgaggtCagaaaggtccttaagcactg	12	8	1	2			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr14:81251451C>T	ENST00000555265.1	-	15	2374	c.1999G>A	c.(1999-2001)Gac>Aac	p.D667N	CEP128_ENST00000281129.3_Missense_Mutation_p.D667N			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	667						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GCAGTGAGGTCAGAAAGGTCC	0.478																																						ENST00000555265.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1999-2001)Gac>Aac		centrosomal protein 128kDa							232	186	202					14																	81251451		2203	4300	6503	SO:0001583	missense	145508					centriole|spindle pole		g.chr14:81251451C>T	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 61", "chromosome 14 open reading frame 145"	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.1999G>A	14.37:g.81251451C>T	ENSP00000451162:p.Asp667Asn					CEP128_ENST00000281129.3_Missense_Mutation_p.D667N	p.D667N			Q6ZU80	CE128_HUMAN			15	2374	-			667					B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	c.1999G>A	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.274203	0.40194	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619	T;T	0.38887	1.11;1.11	6.15	4.3	0.51218	.	0.126644	0.51477	D	0.000086	T	0.43366	0.1244	L	0.46157	1.445	0.80722	D	1	P	0.46142	0.873	B	0.43658	0.426	T	0.50709	-0.8796	10	0.66056	D	0.02	.	17.3776	0.87397	0.0:0.7658:0.2341:0.0	.	667	Q6ZU80	CE128_HUMAN	N	667	ENSP00000281129:D667N;ENSP00000451162:D667N	ENSP00000281129:D667N	D	-	1	0	CEP128	80321204	1.000000	0.71417	1.000000	0.80357	0.077000	0.17291	2.813000	0.48002	1.634000	0.50500	-0.134000	0.14843	GAC		0.478	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		43	160	0	0	0	1	0	43	160					T	81251451	C	T	81251451	3	4	23	1	0	0	0	0	1	0	0	0	1749	826	29	2	1329	2	C14orf145	14	81251451	Missense_Mutation	SNP	C	TCGA-BJ-A28X-01A-11D-A22D-08	20659822	81251451	26098089	28	635											
INF2	64423	broad.mit.edu	37	chr14	105175025	105175025	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagatcactttcctcgatgcCaagaagagcctgaacctcaa	7	12	2	4			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr14:105175025C>T	ENST00000392634.4	+	10	2017	c.1905C>T	c.(1903-1905)gcC>gcT	p.A635A	INF2_ENST00000330634.7_Silent_p.A635A	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	635	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TCCTCGATGCCAAGAAGAGCC	0.622											OREG0022959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000392634.4																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(1903-1905)gcC>gcT		inverted formin, FH2 and WH2 domain containing							109	122	118					14																	105175025		1984	4167	6151	SO:0001819	synonymous_variant	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105175025C>T	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"inverted formin 2"	610982	"chromosome 14 open reading frame 151", "chromosome 14 open reading frame 173"	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.1905C>T	14.37:g.105175025C>T			OREG0022959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1387	INF2_ENST00000330634.7_Silent_p.A635A	p.A635A	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	10	2017	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	635			FH2.		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Silent	SNP	ENST00000392634.4	37	c.1905C>T	CCDS9989.2																																																																																				0.622	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		13	181	0	0	0	1	0	13	181					T	105175025	C	T	105175025	2	4	23	1	0	0	0	0	0	0	0	1	7734	581	21	2		2	INF2	14	105175025	Silent	SNP	C	TCGA-BJ-A28X-01A-11D-A22D-08	23923574	105175025	2174515	29	636											
ZNF770	54989	broad.mit.edu	37	chr15	35274879	35274879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggggcgagattctgtacGcctcttctttaataaaagag	11	8	3	2			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr15:35274879G>A	ENST00000356321.4	-	3	1101	c.757C>T	c.(757-759)Cgt>Tgt	p.R253C		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	253					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		GATTCTGTACGCCTCTTCTTT	0.368																																						ENST00000356321.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29						c.(757-759)Cgt>Tgt		zinc finger protein 770							41	43	42					15																	35274879		2201	4298	6499	SO:0001583	missense	54989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:35274879G>A	BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"Zinc fingers, C2H2-type"	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.757C>T	15.37:g.35274879G>A	ENSP00000348673:p.Arg253Cys						p.R253C	NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)	3	1101	-		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)	253					Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	37	c.757C>T	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	G	2.255	-0.370584	0.05069	.	.	ENSG00000198146	ENST00000356321	T	0.10099	2.91	5.17	4.05	0.47172	.	0.463790	0.19982	U	0.101745	T	0.05640	0.0148	N	0.08118	0	0.19945	N	0.999941	P	0.51653	0.947	B	0.38296	0.27	T	0.20273	-1.0280	10	0.87932	D	0	-0.0212	11.4796	0.50318	0.0:0.0:0.1582:0.8418	.	253	Q6IQ21	ZN770_HUMAN	C	253	ENSP00000348673:R253C	ENSP00000348673:R253C	R	-	1	0	ZNF770	33062171	0.862000	0.29867	0.023000	0.16930	0.042000	0.13812	1.419000	0.34793	0.991000	0.38814	-0.262000	0.10625	CGT		0.368	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		3	59	0	0	0	1	0	3	59					A	35274879	G	A	35274879	3	1	23	1	0	0	0	0	1	0	0	0	18140	1087	38	1	1322	1	ZNF770	15	35274879	Missense_Mutation	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08		35274879	67256513	30	637											
MEFV	4210	broad.mit.edu	37	chr16	3304298	3304298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctagagtcaggagaatttctGgatttgcgggcgccttctcc	12	10	3	2	rs201025181		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr16:3304298G>A	ENST00000219596.1	-	2	809	c.770C>T	c.(769-771)cCa>cTa	p.P257L	MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron|MEFV_ENST00000541159.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	257					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GAGAATTTCTGGATTTGCGGG	0.577													G|||	1	0.000199681	0	0	5008	,	,		13560	0.001		0	False		,,,				2504	0					ENST00000219596.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(769-771)cCa>cTa		Mediterranean fever	Colchicine(DB01394)						116	132	127					16																	3304298		2197	4300	6497	SO:0001583	missense	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3304298G>A	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.770C>T	16.37:g.3304298G>A	ENSP00000219596:p.Pro257Leu					MEFV_ENST00000339854.4_Intron|MEFV_ENST00000541159.1_Intron|MEFV_ENST00000536379.1_Intron	p.P257L	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			2	809	-			257					D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	c.770C>T	CCDS10498.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	12.80	2.045150	0.36085	.	.	ENSG00000103313	ENST00000545159;ENST00000219596	T	0.70631	-0.5	5.31	3.3	0.37823	.	0.840199	0.10448	N	0.673403	T	0.69043	0.3067	L	0.48642	1.525	0.09310	N	0.99999	D	0.56521	0.976	P	0.48524	0.58	T	0.57963	-0.7720	10	0.87932	D	0	-16.218	8.8325	0.35093	0.0:0.1631:0.6679:0.1691	.	257	O15553	MEFV_HUMAN	L	257	ENSP00000219596:P257L	ENSP00000219596:P257L	P	-	2	0	MEFV	3244299	0.247000	0.23920	0.002000	0.10522	0.137000	0.21094	1.308000	0.33528	0.835000	0.34877	0.655000	0.94253	CCA		0.577	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		48	178	0	0	0	1	0	48	178					A	3304298	G	A	3304298	3	1	23	1	0	0	0	0	1	0	0	0	9459	1348	47	2	1611	2	MEFV	16	3304298	Missense_Mutation	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08		3304298	87050455	31	638											
GPRC5B	51704	broad.mit.edu	37	chr16	19883499	19883499	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccacctcttgaacttgccGcacagagtgaagagggccag	11	12	1	4			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr16:19883499G>A	ENST00000300571.2	-	2	860	c.669C>T	c.(667-669)tgC>tgT	p.C223C	GPRC5B_ENST00000535671.1_Silent_p.C223C|GPRC5B_ENST00000569847.1_Silent_p.C223C|GPRC5B_ENST00000569479.1_Silent_p.C223C|GPRC5B_ENST00000537135.1_Silent_p.C249C	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	223					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TGAACTTGCCGCACAGAGTGA	0.592																																						ENST00000300571.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(667-669)tgC>tgT		G protein-coupled receptor, family C, group 5, member B							129	114	119					16																	19883499		2197	4300	6497	SO:0001819	synonymous_variant	0							g.chr16:19883499G>A	AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"GPCR / Class C : Orphans"	13308	protein-coding gene	gene with protein product		605948	"G protein-coupled receptor, family C, group 1, member B", "G protein-coupled receptor, family C, group 5, member B"			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.669C>T	16.37:g.19883499G>A						GPRC5B_ENST00000537135.1_Silent_p.C249C|GPRC5B_ENST00000569847.1_Silent_p.C223C|GPRC5B_ENST00000569479.1_Silent_p.C223C|GPRC5B_ENST00000535671.1_Silent_p.C223C	p.C223C	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN			2	860	-			223					D2DFB0|O75205|Q8NBZ8	Silent	SNP	ENST00000300571.2	37	c.669C>T	CCDS10581.1																																																																																				0.592	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1			3	133	0	0	0	1	0	3	133					A	19883499	G	A	19883499	2	1	23	1	0	0	0	0	0	0	0	1	6725	1079	38	1		1	GPRC5B	16	19883499	Silent	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08	16579201	19883499	70471254	32	639											
ATP6V0D1	9114	broad.mit.edu	37	chr16	67473189	67473189	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactcacctccaggatgggGcacatggcatcagccgtagt	12	13	2	0			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr16:67473189G>A	ENST00000290949.3	-	5	777	c.627C>T	c.(625-627)tgC>tgT	p.C209C	ATP6V0D1_ENST00000602876.1_Silent_p.C132C|ATP6V0D1_ENST00000567694.1_5'UTR|ATP6V0D1_ENST00000540149.1_Silent_p.C250C	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	209					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP hydrolysis coupled proton transport (GO:0015991)|brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|cellular protein metabolic process (GO:0044267)|cilium assembly (GO:0042384)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|synaptic vesicle (GO:0008021)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)			large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		CCAGGATGGGGCACATGGCAT	0.627																																						ENST00000290949.3																			0				large_intestine(3)|lung(3)|urinary_tract(2)	8						c.(625-627)tgC>tgT		ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1							73	61	65					16																	67473189		2198	4300	6498	SO:0001819	synonymous_variant	9114				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex		g.chr16:67473189G>A	X71490	CCDS10838.1	16q22	2010-04-21	2006-01-20	2002-05-10	ENSG00000159720	ENSG00000159720		"ATPases / V-type"	13724	protein-coding gene	gene with protein product		607028	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D", "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 1", "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D1"	ATP6D		8250920	Standard	NM_004691		Approved	ATP6DV, VATX, VPATPD, P39, Vma6	uc002ete.1	P61421	OTTHUMG00000137515	ENST00000290949.3:c.627C>T	16.37:g.67473189G>A						ATP6V0D1_ENST00000567694.1_5'UTR|ATP6V0D1_ENST00000602876.1_Silent_p.C132C|ATP6V0D1_ENST00000540149.1_Silent_p.C250C	p.C209C	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)	5	777	-		Ovarian(137;0.0563)	209					P12953|Q02547	Silent	SNP	ENST00000290949.3	37	c.627C>T	CCDS10838.1																																																																																				0.627	ATP6V0D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268835.1	NM_004691		4	94	0	0	0	1	0	4	94					A	67473189	G	A	67473189	2	1	23	1	0	0	0	0	0	0	0	1	1173	1195	42	2		2	ATP6V0D1	16	67473189	Silent	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08	47589690	67473189	22881564	33	640											
WDR81	124997	broad.mit.edu	37	chr17	1637188	1637188	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagcggaaactggctggcGtactggcagtacgagatcgg	16	9	0	2			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr17:1637188G>A	ENST00000409644.1	+	7	4857	c.4857G>A	c.(4855-4857)gcG>gcA	p.A1619A	WDR81_ENST00000437219.2_Silent_p.A416A|WDR81_ENST00000419248.1_Silent_p.A392A|WDR81_ENST00000309182.5_Silent_p.A568A|WDR81_ENST00000446363.1_Silent_p.A258A|WDR81_ENST00000545662.1_Silent_p.A250A|RP11-961A15.1_ENST00000576540.1_RNA	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1619					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ACTGGCTGGCGTACTGGCAGT	0.692																																						ENST00000409644.1																			0				cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16						c.(4855-4857)gcG>gcA		WD repeat domain 81							54	59	57					17																	1637188		2202	4297	6499	SO:0001819	synonymous_variant	124997							g.chr17:1637188G>A	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.4857G>A	17.37:g.1637188G>A						WDR81_ENST00000419248.1_Silent_p.A392A|WDR81_ENST00000437219.2_Silent_p.A416A|WDR81_ENST00000309182.5_Silent_p.A568A|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_Silent_p.A250A|WDR81_ENST00000446363.1_Silent_p.A258A	p.A1619A	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	7	4857	+			392					B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Silent	SNP	ENST00000409644.1	37	c.4857G>A	CCDS54062.1																																																																																				0.692	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		49	142	0	0	0	1	0	49	142					A	1637188	G	A	1637188	2	1	23	1	0	0	0	0	0	0	0	1	17327	1132	40	1		1	WDR81	17	1637188	Silent	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08		1637188	79558022	34	641											
CDRT15	146822	broad.mit.edu	37	chr17	14139295	14139295	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtagctgctggaactcttcTtcccagccttcttttaatgc	7	13	3	0			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr17:14139295T>C	ENST00000420162.2	-	3	460	c.445A>G	c.(445-447)Aga>Gga	p.R149G	CDRT15_ENST00000431716.2_Missense_Mutation_p.R83G	NM_001007530.1	NP_001007531.1	Q96T59	CDRTF_HUMAN	CMT1A duplicated region transcript 15	149										endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		GGAACTCTTCTTCCCAGCCTT	0.562																																						ENST00000420162.2																			0				endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6						c.(445-447)Aga>Gga		CMT1A duplicated region transcript 15							50	47	48					17																	14139295		2203	4300	6503	SO:0001583	missense	146822							g.chr17:14139295T>C	AF355097	CCDS32569.1	17p12	2012-11-19			ENSG00000223510	ENSG00000223510			14395	protein-coding gene	gene with protein product						11381029	Standard	NM_001007530		Approved		uc010vvu.2	Q96T59	OTTHUMG00000179686	ENST00000420162.2:c.445A>G	17.37:g.14139295T>C	ENSP00000402355:p.Arg149Gly					CDRT15_ENST00000431716.2_Missense_Mutation_p.R83G	p.R149G	NM_001007530.1	NP_001007531.1	Q96T59	CDRTF_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	3	460	-			149					B2RUU5	Missense_Mutation	SNP	ENST00000420162.2	37	c.445A>G	CCDS32569.1	.	.	.	.	.	.	.	.	.	.	T	0.136	-1.107227	0.01813	.	.	ENSG00000223510	ENST00000431716;ENST00000420162	T	0.56941	0.43	.	.	.	.	.	.	.	.	T	0.23210	0.0561	N	0.02916	-0.46	0.09310	N	1	P	0.37500	0.597	B	0.39119	0.291	T	0.18967	-1.0320	7	0.11485	T	0.65	.	.	.	.	.	149	Q96T59	CDRTF_HUMAN	G	83;149	ENSP00000402355:R149G	ENSP00000402355:R149G	R	-	1	2	CDRT15	14080020	0.066000	0.20996	0.053000	0.19242	0.053000	0.15095	0.126000	0.15769	0.103000	0.17682	0.102000	0.15555	AGA		0.562	CDRT15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252853.1	NM_001007530		3	34	0	0	0	1	0	3	34					C	14139295	T	C	14139295	3	2	23	1	0	0	0	0	1	0	0	0	3175	1617	56	3	123	3	CDRT15	17	14139295	Missense_Mutation	SNP	T	TCGA-BJ-A28X-01A-11D-A22D-08	12502107	14139295	67055915	35	642											
AP2B1	163	broad.mit.edu	37	chr17	34009806	34009806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcctctcaataccttggGcccagtcatgaagatggaac	9	13	2	2			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr17:34009806G>A	ENST00000262325.7	+	17	2928	c.2375G>A	c.(2374-2376)gGc>gAc	p.G792D	CTC-507E2.1_ENST00000588135.1_RNA|AP2B1_ENST00000537622.2_Missense_Mutation_p.G806D|AP2B1_ENST00000312678.8_Missense_Mutation_p.G806D|AP2B1_ENST00000592545.1_Missense_Mutation_p.G768D|AP2B1_ENST00000538556.1_Missense_Mutation_p.G735D|AP2B1_ENST00000589344.1_Missense_Mutation_p.G806D|AP2B1_ENST00000545922.2_3'UTR	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	792					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AATACCTTGGGCCCAGTCATG	0.438																																						ENST00000262325.7																			0				NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2374-2376)gGc>gAc		adaptor-related protein complex 2, beta 1 subunit							99	85	89					17																	34009806		2203	4300	6503	SO:0001583	missense	163				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	g.chr17:34009806G>A	M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.2375G>A	17.37:g.34009806G>A	ENSP00000262325:p.Gly792Asp					CTC-507E2.1_ENST00000588135.1_RNA|AP2B1_ENST00000589344.1_Missense_Mutation_p.G806D|AP2B1_ENST00000538556.1_Missense_Mutation_p.G735D|AP2B1_ENST00000537622.2_Missense_Mutation_p.G806D|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000312678.8_Missense_Mutation_p.G806D|AP2B1_ENST00000592545.1_Missense_Mutation_p.G768D	p.G792D	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	17	2928	+		Ovarian(249;0.17)	792					A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	ENST00000262325.7	37	c.2375G>A	CCDS32622.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.001666	0.93227	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622;ENST00000545922	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.31	5.31	0.75309	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);Clathrin adaptor, beta-adaptin, appendage, Ig-like subdomain (1);	0.000000	0.85682	D	0.000000	T	0.70439	0.3224	M	0.87381	2.88	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;0.998;1.0	T	0.76179	-0.3054	10	0.72032	D	0.01	-11.4818	17.9619	0.89087	0.0:0.0:1.0:0.0	.	543;768;792;806	F5GYG9;B4DWG4;P63010;P63010-2	.;.;AP2B1_HUMAN;.	D	792;806;735;806;543	ENSP00000262325:G792D;ENSP00000314414:G806D;ENSP00000440563:G735D;ENSP00000437413:G806D	ENSP00000262325:G792D	G	+	2	0	AP2B1	31033919	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.668000	0.98619	2.483000	0.83821	0.650000	0.86243	GGC		0.438	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			4	137	0	0	0	1	0	4	137					A	34009806	G	A	34009806	3	1	23	1	0	0	0	0	1	0	0	0	741	1203	42	2	2483	2	AP2B1	17	34009806	Missense_Mutation	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08	19870511	34009806	47185404	36	643											
RTEL1	51750	broad.mit.edu	37	chr20	62324212	62324212	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagctcttcatggtggccGtgaagcaggagttgagccaa	13	10	2	2	rs143317975		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr20:62324212G>A	ENST00000360203.5	+	29	3032	c.2707G>A	c.(2707-2709)Gtg>Atg	p.V903M	RTEL1_ENST00000370018.3_Missense_Mutation_p.V903M|RTEL1_ENST00000508582.2_Missense_Mutation_p.V927M|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.V903M|RTEL1_ENST00000370003.1_Missense_Mutation_p.V148M|RTEL1_ENST00000318100.4_Missense_Mutation_p.V903M					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)			CATGGTGGCCGTGAAGCAGGA	0.642																																						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.(2707-2709)Gtg>Atg		regulator of telomere elongation helicase 1		G	MET/VAL,MET/VAL	0,4392		0,0,2196	86	78	80		2707,2779	4.6	0.9	20	dbSNP_134	80	1,8581	1.2+/-3.3	0,1,4290	no	missense,missense	RTEL1	NM_016434.3,NM_032957.4	21,21	0,1,6486	AA,AG,GG		0.0117,0.0,0.0077	possibly-damaging,possibly-damaging	903/1220,927/1244	62324212	1,12973	2196	4291	6487	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.chr20:62324212G>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.2707G>A	20.37:g.62324212G>A	ENSP00000353332:p.Val903Met					RTEL1_ENST00000370003.1_Missense_Mutation_p.V148M|RTEL1_ENST00000508582.2_Missense_Mutation_p.V927M|RTEL1_ENST00000370018.3_Missense_Mutation_p.V903M|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.V903M|RTEL1_ENST00000360203.5_Missense_Mutation_p.V903M	p.V903M			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)		29	3534	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		903						Missense_Mutation	SNP	ENST00000360203.5	37	c.2707G>A		.	.	.	.	.	.	.	.	.	.	G	14.86	2.660166	0.47572	0.0	1.17E-4	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000370003	T;T;T;T;T	0.10763	2.84;2.84;2.84;2.84;2.84	4.59	4.59	0.56863	.	0.111999	0.64402	D	0.000010	T	0.31009	0.0783	L	0.61387	1.9	0.39435	D	0.967157	D;D;D;D	0.89917	0.968;1.0;0.991;0.975	P;D;P;P	0.91635	0.714;0.999;0.791;0.742	T	0.05835	-1.0861	10	0.56958	D	0.05	-27.1972	16.5163	0.84301	0.0:0.0:1.0:0.0	.	927;148;903;903	Q9NZ71-7;Q9NZ71-5;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	M	903;903;927;903;148	ENSP00000359035:V903M;ENSP00000322287:V903M;ENSP00000424307:V927M;ENSP00000353332:V903M;ENSP00000359020:V148M	ENSP00000353332:V903M	V	+	1	0	AL353715.1	61794656	1.000000	0.71417	0.939000	0.37840	0.343000	0.28985	3.355000	0.52262	2.271000	0.75665	0.442000	0.29010	GTG		0.642	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		3	137	0	0	0	1	0	3	137					A	62324212	G	A	62324212	3	1	23	1	0	0	0	0	1	0	0	0	13720	1145	40	1	2817	1	RTEL1	20	62324212	Missense_Mutation	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08		62324212	701308	37	644											
RBM10	8241	broad.mit.edu	37	chrX	47030582	47030582	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggaggaggaggaGgatgaggaggaggaggagaa	25	0	0	2			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chrX:47030582G>T	ENST00000377604.3	+	4	1099	c.357G>T	c.(355-357)gaG>gaT	p.E119D	RBM10_ENST00000345781.6_Intron|RBM10_ENST00000329236.7_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	119	Poly-Glu.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						aggaggaggaggatgaggagg	0.662																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						c.(355-357)gaG>gaT		RNA binding motif protein 10							20	19	19					X																	47030582		2202	4294	6496	SO:0001583	missense	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47030582G>T	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.357G>T	X.37:g.47030582G>T	ENSP00000366829:p.Glu119Asp					RBM10_ENST00000345781.6_Intron|RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000329236.7_Intron	p.E119D	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN			4	1099	+			119			Poly-Glu.		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	37	c.357G>T	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	7.514	0.655267	0.14580	.	.	ENSG00000182872	ENST00000377604	T	0.11169	2.8	3.1	1.15	0.20763	Nucleotide-binding, alpha-beta plait (1);	0.859005	0.09469	N	0.797951	T	0.04815	0.0130	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.38628	-0.9652	10	0.11182	T	0.66	-1.7872	6.9396	0.24486	0.0:0.0:0.4873:0.5127	.	184;119;119	Q7Z3D7;P98175-2;P98175	.;.;RBM10_HUMAN	D	119	ENSP00000366829:E119D	ENSP00000366829:E119D	E	+	3	2	RBM10	46915526	1.000000	0.71417	0.776000	0.31678	0.914000	0.54420	0.961000	0.29267	0.165000	0.19558	0.502000	0.49764	GAG		0.662	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		4	45	1	0	1.024e-07	1	1.088e-07	4	45					T	47030582	G	T	47030582	3	4	23	1	0	0	0	0	1	0	0	0	13111	991	35	4	367	4	RBM10	23	47030582	Missense_Mutation	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08		47030582	108239978	38	645											
USP26	83844	broad.mit.edu	37	chrX	132160788	132160788	+	Frame_Shift_Del	DEL	A	A	-													tactcaagctcttctgctccAaaaaaaagatcaaaagtaga							TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chrX:132160788delA	ENST00000511190.1	-	6	1930	c.1461delT	c.(1459-1461)tttfs	p.F487fs	USP26_ENST00000370832.1_Frame_Shift_Del_p.F487fs|USP26_ENST00000406273.1_Frame_Shift_Del_p.F487fs	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	487	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.G488fs*6(2)|p.F487fs*7(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CTTCTGCTCCAAAAAAAAGAT	0.383																																					NSCLC(104;342 1621 36940 47097 52632)	ENST00000511190.1																			3	Insertion - Frameshift(3)	p.G488fs*6(2)|p.F487fs*7(1)	central_nervous_system(3)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60						c.(1459-1461)ttfs		ubiquitin specific peptidase 26							122	123	122					X																	132160788		2203	4300	6503	SO:0001589	frameshift_variant	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132160788delA	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"Ubiquitin-specific peptidases"	13485	protein-coding gene	gene with protein product		300309	"ubiquitin specific protease 26"			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.1461delT	X.37:g.132160788delA	ENSP00000423390:p.Phe487fs					USP26_ENST00000406273.1_Frame_Shift_Del_p.F487fs|USP26_ENST00000370832.1_Frame_Shift_Del_p.F487fs	p.F487fs	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN			6	1930	-	Acute lymphoblastic leukemia(192;0.000127)		487					B9WRT6|Q5H9H4	Frame_Shift_Del	DEL	ENST00000511190.1	37	c.1461delT	CCDS14635.1																																																																																				0.383	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		11	323						11	323	---	---	---	---	-	132160788	A	-	132160788	7	5	23	1	0	1	0	1	0	0	0	0	17054	127	5	0	1283	0	USP26	23	132160788	Frame_Shift_Del	DEL	A	TCGA-BJ-A28X-01A-11D-A22D-08	85130206	132160788	23109772	39	646											
NIPAL3	57185	broad.mit.edu	37	chr1	24785395	24785395	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaggtttttgagtcaagcctCacagatgtacgactcctctt	8	10	3	2			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr1:24785395C>T	ENST00000374399.4	+	9	1159	c.791C>T	c.(790-792)tCa>tTa	p.S264L	NIPAL3_ENST00000003912.3_Missense_Mutation_p.S182L|NIPAL3_ENST00000339255.2_Missense_Mutation_p.S264L	NM_020448.4	NP_065181.1	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	264						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						AGTCAAGCCTCACAGATGTAC	0.468																																						ENST00000003912.3																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						c.(544-546)tCa>tTa		NIPA-like domain containing 3							216	177	190					1																	24785395		2203	4300	6503	SO:0001583	missense	57185					integral to membrane		g.chr1:24785395C>T	BX640883	CCDS30631.1	1p36.12-p35.1	2009-03-24		2009-03-24	ENSG00000001461	ENSG00000001461			25233	protein-coding gene	gene with protein product				NPAL3		8619474, 9110174	Standard	NM_020448		Approved	DJ462O23.2	uc001bjh.3	Q6P499	OTTHUMG00000003299	ENST00000374399.4:c.791C>T	1.37:g.24785395C>T	ENSP00000363520:p.Ser264Leu					NIPAL3_ENST00000339255.2_Missense_Mutation_p.S264L|NIPAL3_ENST00000374399.4_Missense_Mutation_p.S264L	p.S182L			Q6P499	NPAL3_HUMAN			10	1260	+			264					A2A298|Q6MZT9|Q9BVE6	Missense_Mutation	SNP	ENST00000374399.4	37	c.545C>T	CCDS30631.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.75|10.75	1.438032|1.438032	0.25900|0.25900	.|.	.|.	ENSG00000001461|ENSG00000001461	ENST00000432012|ENST00000374399;ENST00000003912;ENST00000339255	.|D;D;D	.|0.86694	.|-2.16;-2.16;-2.16	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	.|0.179348	.|0.52532	.|N	.|0.000080	T|T	0.73760|0.73760	0.3628|0.3628	N|N	0.05050|0.05050	-0.12|-0.12	0.80722|0.80722	D|D	1|1	.|B;B	.|0.34103	.|0.193;0.437	.|B;B	.|0.34452	.|0.089;0.183	T|T	0.73817|0.73817	-0.3863|-0.3863	5|10	.|0.02654	.|T	.|1	-15.9078|-15.9078	19.1524|19.1524	0.93495|0.93495	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|264;264	.|Q6P499;A6NN97	.|NPAL3_HUMAN;.	Y|L	76|264;182;264	.|ENSP00000363520:S264L;ENSP00000003912:S182L;ENSP00000343549:S264L	.|ENSP00000003912:S182L	H|S	+|+	1|2	0|0	NIPAL3|NIPAL3	24657982|24657982	0.997000|0.997000	0.39634|0.39634	0.999000|0.999000	0.59377|0.59377	0.997000|0.997000	0.91878|0.91878	3.434000|3.434000	0.52841|0.52841	2.775000|2.775000	0.95449|0.95449	0.563000|0.563000	0.77884|0.77884	CAC|TCA		0.468	NIPAL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276996.1	NM_020448		17	58	0	0	0	0.00499	0	17	58					T	24785395	C	T	24785395	3	4	24	1	0	0	0	0	1	0	0	0	10426	838	29	2	821	2	NIPAL3	1	24785395	Missense_Mutation	SNP	C	TCGA-BJ-A28Z-01A-11D-A16O-08		24785395	224465226	1	647											
TNFSF4	7292	broad.mit.edu	37	chr1	173155920	173155920	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagataaaacccatcacagTtgatgatgactgagttgttc	9	7	1	5			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr1:173155920T>C	ENST00000281834.3	-	3	423	c.287A>G	c.(286-288)aAc>aGc	p.N96S	TNFSF4_ENST00000488053.1_5'Flank|TNFSF4_ENST00000367718.1_Missense_Mutation_p.N46S	NM_003326.3	NP_003317.1	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily, member 4	96					acute inflammatory response (GO:0002526)|CD4-positive, alpha-beta T cell costimulation (GO:0035783)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nitrogen dioxide (GO:0035714)|cellular response to prostaglandin E stimulus (GO:0071380)|chemokine (C-C motif) ligand 11 production (GO:0071954)|cholesterol metabolic process (GO:0008203)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|memory T cell activation (GO:0035709)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell activation (GO:0050871)|positive regulation of CD4-positive, alpha-beta T cell costimulation (GO:1900281)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-4-dependent isotype switching to IgE isotypes (GO:2000572)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of memory T cell activation (GO:2000568)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T-helper 2 cell activation (GO:2000570)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of type 2 immune response (GO:0002830)|regulation of adaptive immune response (GO:0002819)|regulation of inflammatory response (GO:0050727)|response to nitrogen dioxide (GO:0035713)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)|T-helper 2 cell activation (GO:0035712)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)|tumor necrosis factor receptor superfamily binding (GO:0032813)			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						CCCATCACAGTTGATGATGAC	0.458																																						ENST00000281834.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						c.(286-288)aAc>aGc		tumor necrosis factor (ligand) superfamily, member 4							115	118	117					1																	173155920		2203	4300	6503	SO:0001583	missense	7292				acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	cell surface|extracellular space|integral to plasma membrane	cytokine activity	g.chr1:173155920T>C	D90224	CCDS1306.1, CCDS72985.1	1q25	2008-07-31	2008-07-31		ENSG00000117586	ENSG00000117586		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11934	protein-coding gene	gene with protein product		603594	"tax-transcriptionally activated glycoprotein 1, 34kD"	TXGP1		1996093, 8076595	Standard	XM_005245475		Approved	OX-40L, gp34, CD252	uc001giw.3	P23510	OTTHUMG00000034838	ENST00000281834.3:c.287A>G	1.37:g.173155920T>C	ENSP00000281834:p.Asn96Ser					TNFSF4_ENST00000367718.1_Missense_Mutation_p.N46S	p.N96S	NM_003326.3	NP_003317.1	P23510	TNFL4_HUMAN			3	423	-			96					Q5JZA5|Q8IV74|Q9HCN9	Missense_Mutation	SNP	ENST00000281834.3	37	c.287A>G	CCDS1306.1	.	.	.	.	.	.	.	.	.	.	T	9.580	1.123243	0.20959	.	.	ENSG00000117586	ENST00000367718;ENST00000281834;ENST00000545292	D;D	0.94613	-3.47;-3.47	5.76	-8.73	0.00841	Tumour necrosis factor (2);Tumour necrosis factor-like (1);Tumour necrosis factor, conserved site (1);	1.693150	0.02418	N	0.082257	D	0.82365	0.5021	L	0.54323	1.7	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.08055	0.003;0.003	T	0.73563	-0.3943	10	0.20046	T	0.44	0.119	9.1863	0.37172	0.0:0.457:0.3483:0.1948	.	96;46	P23510;Q8IV74	TNFL4_HUMAN;.	S	46;96;46	ENSP00000356691:N46S;ENSP00000281834:N96S	ENSP00000281834:N96S	N	-	2	0	TNFSF4	171422543	0.001000	0.12720	0.000000	0.03702	0.390000	0.30446	-1.701000	0.01903	-1.157000	0.02815	-0.250000	0.11733	AAC		0.458	TNFSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084271.1			21	69	0	0	0	0.001882	0	21	69					C	173155920	T	C	173155920	3	2	24	1	0	0	0	0	1	0	0	0	16307	1725	60	3	268	3	TNFSF4	1	173155920	Missense_Mutation	SNP	T	TCGA-BJ-A28Z-01A-11D-A16O-08	148370525	173155920	76094701	2	648											
MAP4K4	9448	broad.mit.edu	37	chr2	102450904	102450904	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cttgtggcattacagccattGagatggcagaaggtgctccc	12	10	0	2			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr2:102450904G>C	ENST00000347699.4	+	8	673	c.673G>C	c.(673-675)Gag>Cag	p.E225Q	MAP4K4_ENST00000350878.4_Missense_Mutation_p.E205Q|MAP4K4_ENST00000413150.2_Missense_Mutation_p.E225Q|MAP4K4_ENST00000425019.1_Missense_Mutation_p.E225Q|MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000350198.4_Missense_Mutation_p.E225Q|MAP4K4_ENST00000324219.4_Missense_Mutation_p.E225Q|MAP4K4_ENST00000456652.1_Intron	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	225	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TACAGCCATTGAGATGGCAGA	0.408																																						ENST00000413150.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(673-675)Gag>Cag		mitogen-activated protein kinase kinase kinase kinase 4							159	144	149					2																	102450904		1884	4125	6009	SO:0001583	missense	9448				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:102450904G>C	AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6866	protein-coding gene	gene with protein product	"HPK/GCK-like kinase", "hepatocyte progenitor kinase-like/germinal center kinase-like kinase"	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.673G>C	2.37:g.102450904G>C	ENSP00000314363:p.Glu225Gln					MAP4K4_ENST00000350198.4_Missense_Mutation_p.E225Q|MAP4K4_ENST00000324219.4_Missense_Mutation_p.E225Q|MAP4K4_ENST00000456652.1_Intron|MAP4K4_ENST00000350878.4_Missense_Mutation_p.E205Q|MAP4K4_ENST00000347699.4_Missense_Mutation_p.E225Q|MAP4K4_ENST00000425019.1_Missense_Mutation_p.E225Q|MAP4K4_ENST00000302217.5_Intron	p.E225Q	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN			8	728	+			225			Protein kinase.		O75172|Q9NST7	Missense_Mutation	SNP	ENST00000347699.4	37	c.673G>C	CCDS56130.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479370	0.84747	.	.	ENSG00000071054	ENST00000425019;ENST00000324219;ENST00000350198;ENST00000413150;ENST00000347699;ENST00000417294;ENST00000350878	T;T;T;T;T;T;T	0.70045	1.25;1.25;1.25;1.25;1.25;1.25;-0.45	6.03	6.03	0.97812	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	0.85682	D	0.000000	D	0.85504	0.5712	M	0.86420	2.815	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.85130	0.983;0.997;0.993;0.983;0.971;0.996;0.996;0.943;0.993;0.993	D	0.86528	0.1820	10	0.87932	D	0	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	205;225;225;205;225;225;225;225;225;225	B7Z388;B7Z3V5;E7ENQ1;E7ESS2;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948	.;.;.;.;.;M4K4_HUMAN;.;.;.;.	Q	225;225;225;225;225;187;205	ENSP00000392830:E225Q;ENSP00000313644:E225Q;ENSP00000281111:E225Q;ENSP00000389752:E225Q;ENSP00000314363:E225Q;ENSP00000409720:E187Q;ENSP00000343658:E205Q	ENSP00000313644:E225Q	E	+	1	0	MAP4K4	101817336	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	9.813000	0.99286	2.854000	0.98071	0.655000	0.94253	GAG		0.408	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834		4	21	0	0	0	0.000248	0	4	21					C	102450904	G	C	102450904	3	2	24	1	0	0	0	0	1	0	0	0	9262	1291	45	4	703	4	MAP4K4	2	102450904	Missense_Mutation	SNP	G	TCGA-BJ-A28Z-01A-11D-A16O-08		102450904	140748469	3	649											
ANKRD44	91526	broad.mit.edu	37	chr2	197975514	197975514	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaatgagggtctgtgaccGtgtgaaccttccatggacag	13	9	1	4			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr2:197975514G>A	ENST00000328737.2	-	9	962	c.886C>T	c.(886-888)Cgg>Tgg	p.R296W	ANKRD44_ENST00000539527.1_Missense_Mutation_p.R249W|ANKRD44_ENST00000409153.1_Missense_Mutation_p.R321W|ANKRD44_ENST00000337207.5_Missense_Mutation_p.R296W|ANKRD44_ENST00000450567.1_Missense_Mutation_p.R296W|ANKRD44_ENST00000282272.8_Missense_Mutation_p.R313W|ANKRD44_ENST00000409919.1_Missense_Mutation_p.R321W			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	321										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTCTGTGACCGTGTGAACCTT	0.428																																						ENST00000328737.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45						c.(886-888)Cgg>Tgg		ankyrin repeat domain 44							223	210	214					2																	197975514		2203	4300	6503	SO:0001583	missense	91526						protein binding	g.chr2:197975514G>A	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	25259	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit B"						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.886C>T	2.37:g.197975514G>A	ENSP00000331516:p.Arg296Trp					ANKRD44_ENST00000337207.5_Missense_Mutation_p.R296W|ANKRD44_ENST00000539527.1_Missense_Mutation_p.R249W|ANKRD44_ENST00000450567.1_Missense_Mutation_p.R296W|ANKRD44_ENST00000282272.8_Missense_Mutation_p.R313W|ANKRD44_ENST00000409919.1_Missense_Mutation_p.R321W|ANKRD44_ENST00000409153.1_Missense_Mutation_p.R321W	p.R296W			Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		9	962	-			321					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	37	c.886C>T		.	.	.	.	.	.	.	.	.	.	G	22.1	4.247132	0.80024	.	.	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000422886;ENST00000409153;ENST00000539527;ENST00000409919	T;T;T;T;T;T;T;T;T	0.64260	2.4;2.41;-0.09;-0.09;-0.09;-0.09;2.4;-0.09;-0.09	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.73225	0.3560	L	0.43152	1.355	0.54753	D	0.999986	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	T	0.75391	-0.3334	10	0.72032	D	0.01	.	16.31	0.82865	0.0:0.0:1.0:0.0	.	249;321;321	F5H682;Q8N8A2-3;Q8N8A2-2	.;.;.	W	118;313;296;296;296;19;321;249;321	ENSP00000403415:R118W;ENSP00000282272:R313W;ENSP00000331516:R296W;ENSP00000402420:R296W;ENSP00000338794:R296W;ENSP00000416319:R19W;ENSP00000387141:R321W;ENSP00000437825:R249W;ENSP00000387233:R321W	ENSP00000282272:R313W	R	-	1	2	ANKRD44	197683759	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	4.155000	0.58131	2.600000	0.87896	0.563000	0.77884	CGG		0.428	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		5	210	0	0	0	0.001168	0	5	210					A	197975514	G	A	197975514	3	1	24	1	0	0	0	0	1	0	0	0	672	1144	40	1	1945	1	ANKRD44	2	197975514	Missense_Mutation	SNP	G	TCGA-BJ-A28Z-01A-11D-A16O-08	95524610	197975514	45223859	4	650											
KIF15	56992	broad.mit.edu	37	chr3	44839336	44839336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cattaaacaggattcccttgGaggtaatgccaaaacagcca	8	10	0	0			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr3:44839336G>A	ENST00000326047.4	+	10	1135	c.986G>A	c.(985-987)gGa>gAa	p.G329E	KIF15_ENST00000425755.1_5'Flank	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	329	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GATTCCCTTGGAGGTAATGCC	0.403																																						ENST00000326047.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36						c.(985-987)gGa>gAa		kinesin family member 15							100	97	98					3																	44839336		2203	4300	6503	SO:0001583	missense	56992				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	g.chr3:44839336G>A	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"Kinesins"	17273	protein-coding gene	gene with protein product			"kinesin-like 7"	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.986G>A	3.37:g.44839336G>A	ENSP00000324020:p.Gly329Glu						p.G329E	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	10	1135	+			329					Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	ENST00000326047.4	37	c.986G>A	CCDS33744.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788122	0.90367	.	.	ENSG00000163808	ENST00000326047;ENST00000481166;ENST00000396031	T;T	0.76448	-1.02;-1.02	5.37	5.37	0.77165	Kinesin, motor domain (4);	0.000000	0.50627	D	0.000107	D	0.91253	0.7243	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93106	0.6512	10	0.87932	D	0	.	19.1155	0.93336	0.0:0.0:1.0:0.0	.	329	Q9NS87	KIF15_HUMAN	E	329;101;328	ENSP00000324020:G329E;ENSP00000425499:G101E	ENSP00000324020:G329E	G	+	2	0	KIF15	44814340	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	9.476000	0.97823	2.519000	0.84933	0.462000	0.41574	GGA		0.403	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2			27	74	0	0	0	0.005443	0	27	74					A	44839336	G	A	44839336	3	1	24	1	0	0	0	0	1	0	0	0	8277	1174	41	2	1024	2	KIF15	3	44839336	Missense_Mutation	SNP	G	TCGA-BJ-A28Z-01A-11D-A16O-08		44839336	153183094	5	651											
BFSP2	8419	broad.mit.edu	37	chr3	133185795	133185795	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctgagacagaatccttaCgtgccctggtaagtgggcca	13	10	0	2	rs200573601		TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr3:133185795C>T	ENST00000302334.2	+	5	1104	c.1015C>T	c.(1015-1017)Cgt>Tgt	p.R339C	BFSP2_ENST00000511434.1_3'UTR	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	339	Rod.				cell maturation (GO:0048469)|intermediate filament cytoskeleton organization (GO:0045104)|lens fiber cell development (GO:0070307)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						AGAATCCTTACGTGCCCTGGT	0.517																																						ENST00000302334.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						c.(1015-1017)Cgt>Tgt		beaded filament structural protein 2, phakinin							65	63	64					3																	133185795		2203	4300	6503	SO:0001583	missense	8419				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr3:133185795C>T	U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819		"Intermediate filaments type VI, eye lens intermediate filaments"	1041	protein-coding gene	gene with protein product		603212					Standard	NM_003571		Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.1015C>T	3.37:g.133185795C>T	ENSP00000304987:p.Arg339Cys					BFSP2_ENST00000511434.1_3'UTR	p.R339C	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN			5	1104	+			339			Rod.		Q14D32|Q9HBW5	Missense_Mutation	SNP	ENST00000302334.2	37	c.1015C>T	CCDS33859.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010621	0.75046	.	.	ENSG00000170819	ENST00000302334	D	0.89875	-2.58	5.92	2.87	0.33458	Filament (1);	0.204715	0.33534	N	0.004801	D	0.94381	0.8193	M	0.88310	2.945	0.58432	D	0.999999	D	0.76494	0.999	D	0.67382	0.951	D	0.94571	0.7771	10	0.56958	D	0.05	-18.2126	13.8519	0.63501	0.6735:0.3265:0.0:0.0	.	339	Q13515	BFSP2_HUMAN	C	339	ENSP00000304987:R339C	ENSP00000304987:R339C	R	+	1	0	BFSP2	134668485	0.998000	0.40836	0.703000	0.30354	0.983000	0.72400	2.255000	0.43222	0.826000	0.34661	0.561000	0.74099	CGT		0.517	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357031.1			16	54	0	0	0	0.00499	0	16	54					T	133185795	C	T	133185795	3	4	24	1	0	0	0	0	1	0	0	0	1416	536	19	1	1033	1	BFSP2	3	133185795	Missense_Mutation	SNP	C	TCGA-BJ-A28Z-01A-11D-A16O-08	88346459	133185795	64836635	6	652											
B3GNT5	84002	broad.mit.edu	37	chr3	182988119	182988119	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attacttatgcagttcagttGggcaaatacctattgtccac	7	9	1	0			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr3:182988119G>A	ENST00000326505.3	+	2	1063	c.533G>A	c.(532-534)tGg>tAg	p.W178*	B3GNT5_ENST00000465010.1_Nonsense_Mutation_p.W178*|MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000460419.1_Nonsense_Mutation_p.W178*|MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000328913.3_Intron	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	178					cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycolipid biosynthetic process (GO:0009247)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity (GO:0008457)|galactosyltransferase activity (GO:0008378)|lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase activity (GO:0047256)|lipopolysaccharide N-acetylglucosaminyltransferase activity (GO:0008917)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CAGTTCAGTTGGGCAAATACC	0.343																																						ENST00000326505.3																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8						c.(532-534)tGg>tAg		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5							82	81	81					3																	182988119		2203	4300	6503	SO:0001587	stop_gained	84002				central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:182988119G>A	AB045278	CCDS3244.1	3q28	2013-02-21			ENSG00000176597	ENSG00000176597	2.4.1.206	"Beta 3-glycosyltransferases"	15684	protein-coding gene	gene with protein product	"lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase"	615333				11283017	Standard	XM_005247824		Approved	B3GN-T5, beta3Gn-T5	uc003flk.3	Q9BYG0	OTTHUMG00000158436	ENST00000326505.3:c.533G>A	3.37:g.182988119G>A	ENSP00000316173:p.Trp178*					B3GNT5_ENST00000465010.1_Nonsense_Mutation_p.W178*|MCF2L2_ENST00000328913.3_Intron|B3GNT5_ENST00000460419.1_Nonsense_Mutation_p.W178*|MCF2L2_ENST00000473233.1_Intron|MCF2L2_ENST00000447025.2_Intron	p.W178*	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		2	1063	+	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		178					D3DNS5|Q59FE3|Q7L9Z5|Q8WWP9	Nonsense_Mutation	SNP	ENST00000326505.3	37	c.533G>A	CCDS3244.1	.	.	.	.	.	.	.	.	.	.	G	43	10.122265	0.99342	.	.	ENSG00000176597	ENST00000326505;ENST00000460419;ENST00000465010	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0165	0.97478	0.0:0.0:1.0:0.0	.	.	.	.	X	178	.	ENSP00000316173:W178X	W	+	2	0	B3GNT5	184470813	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.736000	0.93811	0.557000	0.71058	TGG		0.343	B3GNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351009.1	NM_032047		32	95	0	0	0	0.001786	0	32	95					A	182988119	G	A	182988119	4	1	24	1	0	0	0	0	0	1	0	0	1260	1357	47	2	535	2	B3GNT5	3	182988119	Nonsense_Mutation	SNP	G	TCGA-BJ-A28Z-01A-11D-A16O-08	49802324	182988119	15034311	7	653											
TRIML1	339976	broad.mit.edu	37	chr4	189060832	189060832	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcttttgtctggtgtgtctCctcaggagctgggaggaaca	14	8	3	0			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr4:189060832C>T	ENST00000332517.3	+	1	260	c.120C>T	c.(118-120)ctC>ctT	p.L40L	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	40					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TGGTGTGTCTCCTCAGGAGCT	0.547																																					Melanoma(31;213 1036 16579 23968 32372)	ENST00000332517.3																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(118-120)ctC>ctT		tripartite motif family-like 1							181	180	180					4																	189060832		2203	4300	6503	SO:0001819	synonymous_variant	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189060832C>T	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"RING-type (C3HC4) zinc fingers"	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.120C>T	4.37:g.189060832C>T							p.L40L	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	1	260	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	40					Q96BE5	Silent	SNP	ENST00000332517.3	37	c.120C>T	CCDS3851.1																																																																																				0.547	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		67	234	0	0	0	0.00361	0	67	234					T	189060832	C	T	189060832	2	4	24	1	0	0	0	0	0	0	0	1	16547	842	30	2		2	TRIML1	4	189060832	Silent	SNP	C	TCGA-BJ-A28Z-01A-11D-A16O-08		189060832	2093444	8	654											
ARSK	153642	broad.mit.edu	37	chr5	94918766	94918766	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caaagcagtaaactggttaaGaaaggaagcaattaattaca	8	5	0	1			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr5:94918766G>A	ENST00000380009.4	+	4	768	c.563G>A	c.(562-564)aGa>aAa	p.R188K		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	188					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		AACTGGTTAAGAAAGGAAGCA	0.388																																						ENST00000380009.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16						c.(562-564)aGa>aAa		arylsulfatase family, member K							132	128	129					5																	94918766		2203	4300	6503	SO:0001583	missense	153642					extracellular region	arylsulfatase activity|metal ion binding	g.chr5:94918766G>A		CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"Arylsulfatase family"	25239	protein-coding gene	gene with protein product		610011	"arylsulfatase K"			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.563G>A	5.37:g.94918766G>A	ENSP00000369346:p.Arg188Lys						p.R188K	NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN		all cancers(79;6.5e-16)	4	768	+		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)	188					A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Missense_Mutation	SNP	ENST00000380009.4	37	c.563G>A	CCDS4073.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.107340	0.37145	.	.	ENSG00000164291	ENST00000380009	D	0.99885	-7.51	6.02	3.31	0.37934	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.273372	0.40818	N	0.001014	D	0.99086	0.9686	L	0.28458	0.855	0.80722	D	1	B	0.19200	0.034	B	0.22152	0.038	D	0.99986	1.3294	10	0.19590	T	0.45	-17.4236	9.0933	0.36623	0.359:0.0:0.641:0.0	.	188	Q6UWY0	ARSK_HUMAN	K	188	ENSP00000369346:R188K	ENSP00000369346:R188K	R	+	2	0	ARSK	94944522	1.000000	0.71417	0.998000	0.56505	0.619000	0.37552	2.021000	0.41020	0.447000	0.26695	-0.157000	0.13467	AGA		0.388	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2	NM_198150		24	64	0	0	0	0.00333	0	24	64					A	94918766	G	A	94918766	3	1	24	1	0	0	0	0	1	0	0	0	996	942	33	2	577	2	ARSK	5	94918766	Missense_Mutation	SNP	G	TCGA-BJ-A28Z-01A-11D-A16O-08		94918766	85996494	9	655											
C6orf27	80737	broad.mit.edu	37	chr6	31741165	31741165	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccttgttgatgcctcccctCggtggctgggagctgctccg	13	14	0	1	rs201850397	byFrequency	TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr6:31741165C>T	ENST00000375688.4	-	6	971	c.771G>A	c.(769-771)ccG>ccA	p.P257P	VWA7_ENST00000447450.1_Silent_p.P257P|VWA7_ENST00000375686.3_Silent_p.P257P|VWA7_ENST00000467576.1_Intron			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	257						extracellular region (GO:0005576)											TGCCTCCCCTCGGTGGCTGGG	0.602													C|||	2	0.000399361	0.0015	0	5008	,	,		18508	0		0	False		,,,				2504	0					ENST00000375686.3																			0											c.(769-771)ccG>ccA		von Willebrand factor A domain containing 7							57	56	56					6																	31741165		2203	4299	6502	SO:0001819	synonymous_variant	80737					extracellular region		g.chr6:31741165C>T		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"chromosome 6 open reading frame 27"	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.771G>A	6.37:g.31741165C>T						VWA7_ENST00000447450.1_Silent_p.P257P|VWA7_ENST00000467576.1_Intron|VWA7_ENST00000375688.4_Silent_p.P257P	p.P257P	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN			6	1008	-			257					A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Silent	SNP	ENST00000375688.4	37	c.771G>A	CCDS4721.2																																																																																				0.602	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258		5	20	0	0	0	0.000602	0	5	20					T	31741165	C	T	31741165	2	4	24	1	0	0	0	0	0	0	0	1	2362	871	31	1		1	C6orf27	6	31741165	Silent	SNP	C	TCGA-BJ-A28Z-01A-11D-A16O-08		31741165	139373902	10	656											
C6orf150	115004	broad.mit.edu	37	chr6	74161389	74161389	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atatcatcgcggctgagcttCaacttctccaaaaccgcccg	7	15	3	1			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr6:74161389C>T	ENST00000370315.3	-	1	610	c.516G>A	c.(514-516)ttG>ttA	p.L172L	MB21D1_ENST00000370318.1_Silent_p.L172L	NM_138441.2	NP_612450.2	Q8N884	CGAS_HUMAN	Mab-21 domain containing 1	172					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|cyclic nucleotide biosynthetic process (GO:0009190)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of type I interferon production (GO:0032481)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cyclic-GMP-AMP synthase activity (GO:0061501)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|lung(1)	6						GGCTGAGCTTCAACTTCTCCA	0.667																																						ENST00000370315.3																			0				central_nervous_system(1)|large_intestine(4)|lung(1)	6						c.(514-516)ttG>ttA		Mab-21 domain containing 1							26	27	26					6																	74161389		2203	4299	6502	SO:0001819	synonymous_variant	115004							g.chr6:74161389C>T	BC012928	CCDS4978.1	6q13	2011-02-23	2011-02-23	2011-02-23	ENSG00000164430	ENSG00000164430			21367	protein-coding gene	gene with protein product		613973	"chromosome 6 open reading frame 150"	C6orf150			Standard	NM_138441		Approved		uc003pgx.1	Q8N884	OTTHUMG00000015034	ENST00000370315.3:c.516G>A	6.37:g.74161389C>T						MB21D1_ENST00000370318.1_Silent_p.L172L	p.L172L	NM_138441.2	NP_612450.2	Q8N884	M21D1_HUMAN			1	610	-			172					L0L2J9|Q14CV6|Q32NC9|Q5SWL0|Q5SWL1|Q96E45	Silent	SNP	ENST00000370315.3	37	c.516G>A	CCDS4978.1																																																																																				0.667	MB21D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041221.5	NM_138441		5	26	0	0	0	0.001168	0	5	26					T	74161389	C	T	74161389	2	4	24	1	0	0	0	0	0	0	0	1	2337	825	29	2		2	C6orf150	6	74161389	Silent	SNP	C	TCGA-BJ-A28Z-01A-11D-A16O-08	42420224	74161389	96953678	11	657											
GOPC	57120	broad.mit.edu	37	chr6	117900212	117900212	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttctgtcagttcagatttcaGatccaccaactgtgccttat	6	11	4	2			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr6:117900212G>A	ENST00000368498.2	-	2	376	c.301C>T	c.(301-303)Ctg>Ttg	p.L101L	GOPC_ENST00000052569.6_Silent_p.L101L|GOPC_ENST00000535237.1_Silent_p.L101L	NM_020399.3	NP_065132.1	Q9HD26	GOPC_HUMAN	golgi-associated PDZ and coiled-coil motif containing	101					apical protein localization (GO:0045176)|cytoplasmic sequestering of CFTR protein (GO:0043004)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane transport (GO:0006893)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|spermatid nucleus differentiation (GO:0007289)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|trans-Golgi network transport vesicle (GO:0030140)	ion channel binding (GO:0044325)|small GTPase regulator activity (GO:0005083)		GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		TCAGATTTCAGATCCACCAAC	0.348			O	ROS1	glioblastoma																																	ENST00000535237.1				Dom	yes		6	6q21	57120	O	golgi associated PDZ and coiled-coil motif containing			O	ROS1		glioblastoma	GOPC/ROS1(14)	0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						c.(301-303)Ctg>Ttg		golgi-associated PDZ and coiled-coil motif containing							85	80	82					6																	117900212		2203	4299	6502	SO:0001819	synonymous_variant	57120							g.chr6:117900212G>A	AF287894	CCDS5117.1, CCDS34523.1	6q21	2010-02-12	2010-02-12		ENSG00000047932	ENSG00000047932			17643	protein-coding gene	gene with protein product		606845				11162552, 11520064	Standard	NM_020399		Approved	dJ94G16.2, PIST, FIG, GOPC1, CAL		Q9HD26	OTTHUMG00000015457	ENST00000368498.2:c.301C>T	6.37:g.117900212G>A						GOPC_ENST00000368498.2_Silent_p.L101L|GOPC_ENST00000052569.6_Silent_p.L101L	p.L101L						GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)	2	530	-		all_cancers(87;0.00844)|all_epithelial(87;0.0242)						A6NM30|Q59FS4|Q969U8	Silent	SNP	ENST00000368498.2	37	c.301C>T	CCDS5117.1																																																																																				0.348	GOPC-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041988.1	NM_020399		13	41	0	0	0	0.001855	0	13	41					A	117900212	G	A	117900212	2	1	24	1	0	0	0	0	0	0	0	1	6573	933	33	2		2	GOPC	6	117900212	Silent	SNP	G	TCGA-BJ-A28Z-01A-11D-A16O-08	43738823	117900212	53214855	12	658											
FZD1	8321	broad.mit.edu	37	chr7	90894813	90894813	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgctcatgaacaagttcggCttccagtggccagacacgct	11	13	1	2			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr7:90894813C>A	ENST00000287934.2	+	1	1031	c.618C>A	c.(616-618)ggC>ggA	p.G206G		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	206	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			ACAAGTTCGGCTTCCAGTGGC	0.701																																						ENST00000287934.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(616-618)ggC>ggA		frizzled family receptor 1							46	51	49					7																	90894813		2203	4299	6502	SO:0001819	synonymous_variant	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90894813C>A	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"GPCR / Class F : Frizzled receptors"	4038	protein-coding gene	gene with protein product	"Wnt receptor", "frizzled, Drosophila, homolog of, 1"	603408	"frizzled (Drosophila) homolog 1", "frizzled homolog 1 (Drosophila)", "frizzled 1, seven transmembrane spanning receptor", "frizzled family receptor 1"			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.618C>A	7.37:g.90894813C>A							p.G206G	NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		1	1031	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		206			FZ.		A4D1E8|O94815|Q549T8	Silent	SNP	ENST00000287934.2	37	c.618C>A	CCDS5620.1																																																																																				0.701	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		16	56	1	0	1.15088e-07	0.004007	2.30175e-07	16	56					A	90894813	C	A	90894813	2	1	24	1	0	0	0	0	0	0	0	1	6128	784	28	4		4	FZD1	7	90894813	Silent	SNP	C	TCGA-BJ-A28Z-01A-11D-A16O-08		90894813	68243850	13	659											
STAR	6770	broad.mit.edu	37	chr8	38005733	38005733	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttacctgctgactctccttCttccagccctcttggttgct	6	16	3	1			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr8:38005733C>T	ENST00000276449.4	-	3	737	c.291G>A	c.(289-291)aaG>aaA	p.K97K	RP11-90P5.2_ENST00000520598.1_RNA	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	97	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				bile acid biosynthetic process (GO:0006699)|biphenyl metabolic process (GO:0018879)|brain development (GO:0007420)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth hormone stimulus (GO:0071378)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-alpha (GO:0035457)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to luteinizing hormone stimulus (GO:0071373)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cholesterol metabolic process (GO:0008203)|circadian sleep/wake cycle, REM sleep (GO:0042747)|dibenzo-p-dioxin metabolic process (GO:0018894)|diterpenoid metabolic process (GO:0016101)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|glucocorticoid metabolic process (GO:0008211)|insecticide metabolic process (GO:0017143)|intracellular cholesterol transport (GO:0032367)|male gonad development (GO:0008584)|negative regulation of neuron apoptotic process (GO:0043524)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of gene expression (GO:0010628)|positive regulation of neurogenesis (GO:0050769)|progesterone biosynthetic process (GO:0006701)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of steroid biosynthetic process (GO:0050810)|response to activity (GO:0014823)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to hydrogen peroxide (GO:0042542)|response to ionizing radiation (GO:0010212)|response to lead ion (GO:0010288)|response to leptin (GO:0044321)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytosol (GO:0005829)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	cholesterol binding (GO:0015485)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		GACTCTCCTTCTTCCAGCCCT	0.557																																						ENST00000276449.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						c.(289-291)aaG>aaA		steroidogenic acute regulatory protein							106	70	82					8																	38005733		2203	4300	6503	SO:0001819	synonymous_variant	6770				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity	g.chr8:38005733C>T	BC010550	CCDS6102.1	8p11.2	2011-09-13	2007-05-15		ENSG00000147465	ENSG00000147465		"StAR-related lipid transfer (START) domain containing"	11359	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 1"	600617	"steroidogenic acute regulator"			7761400	Standard	NM_000349		Approved	StAR, STARD1	uc003xkv.1	P49675	OTTHUMG00000164058	ENST00000276449.4:c.291G>A	8.37:g.38005733C>T							p.K97K	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN		READ - Rectum adenocarcinoma(644;0.188)	3	737	-	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)	97			START.		Q16396	Silent	SNP	ENST00000276449.4	37	c.291G>A	CCDS6102.1	.	.	.	.	.	.	.	.	.	.	C	8.661	0.900516	0.17686	.	.	ENSG00000147465	ENST00000522050	.	.	.	5.43	4.55	0.56014	.	.	.	.	.	T	0.62636	0.2444	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61098	-0.7131	4	.	.	.	-35.5742	11.1751	0.48595	0.0:0.8527:0.0:0.1473	.	.	.	.	K	76	.	.	R	-	2	0	STAR	38124890	0.958000	0.32768	1.000000	0.80357	0.878000	0.50629	0.472000	0.22116	1.427000	0.47276	0.491000	0.48974	AGA		0.557	STAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376990.2	NM_000349		9	33	0	0	0	0.006214	0	9	33					T	38005733	C	T	38005733	2	4	24	1	0	0	0	0	0	0	0	1	15253	912	32	2		2	STAR	8	38005733	Silent	SNP	C	TCGA-BJ-A28Z-01A-11D-A16O-08		38005733	108358289	14	660											
CEP110	11064	broad.mit.edu	37	chr9	123927267	123927267	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaatggagcaatcaaacTtagaaaagttggaattgaat	9	4	1	2			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr9:123927267T>A	ENST00000373855.1	+	35	5730	c.5470T>A	c.(5470-5472)Tta>Ata	p.L1824I	CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373850.1_Missense_Mutation_p.L1272I|CNTRL_ENST00000238341.5_Missense_Mutation_p.L1824I			Q7Z7A1	CNTRL_HUMAN	centriolin	1824					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GCAATCAAACTTAGAAAAGTT	0.398																																						ENST00000373855.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(5470-5472)Tta>Ata		centriolin							84	77	80					9																	123927267		2203	4300	6503	SO:0001583	missense	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123927267T>A	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.5470T>A	9.37:g.123927267T>A	ENSP00000362962:p.Leu1824Ile					CNTRL_ENST00000373850.1_Missense_Mutation_p.L1272I|CNTRL_ENST00000238341.5_Missense_Mutation_p.L1824I|CNTRL_ENST00000373845.2_3'UTR	p.L1824I			Q7Z7A1	CNTRL_HUMAN			35	5730	+			1824					A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.5470T>A	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	T	19.68	3.873184	0.72180	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000394368;ENST00000373850;ENST00000373845	T;T;T	0.43294	1.22;1.22;0.95	6.04	2.29	0.28610	.	.	.	.	.	T	0.35537	0.0935	L	0.59436	1.845	0.23616	N	0.997285	P	0.49185	0.92	B	0.44108	0.441	T	0.24333	-1.0163	9	0.37606	T	0.19	.	1.6738	0.02817	0.1208:0.1602:0.3088:0.4103	.	1824	Q7Z7A1	CNTRL_HUMAN	I	1824;1824;1824;580;6;1272;506	ENSP00000362962:L1824I;ENSP00000238341:L1824I;ENSP00000362956:L1272I	ENSP00000238341:L1824I	L	+	1	2	CNTRL	122967088	0.902000	0.30710	1.000000	0.80357	0.993000	0.82548	0.023000	0.13533	0.539000	0.28788	0.460000	0.39030	TTA		0.398	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		4	76	0	0	0	0.000248	0	4	76					A	123927267	T	A	123927267	3	1	24	1	0	0	0	0	1	0	0	0	3245	1606	56	5	5600	5	CEP110	9	123927267	Missense_Mutation	SNP	T	TCGA-BJ-A28Z-01A-11D-A16O-08		123927267	17286164	15	661											
ITGB1	3688	broad.mit.edu	37	chr10	33200886	33200886	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaatttgccagaataaatttCatttgtattatccctcttcc	4	9	2	1			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr10:33200886C>T	ENST00000396033.2	-	12	1771	c.1636G>A	c.(1636-1638)Gaa>Aaa	p.E546K	ITGB1_ENST00000374956.4_Missense_Mutation_p.E546K|ITGB1_ENST00000302278.3_Missense_Mutation_p.E546K|ITGB1_ENST00000423113.1_Missense_Mutation_p.E546K	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	546	Cysteine-rich tandem repeats.				axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|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 endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	GAATAAATTTCATTTGTATTA	0.403																																						ENST00000396033.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1636-1638)Gaa>Aaa		integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)							141	132	135					10																	33200886		2203	4300	6503	SO:0001583	missense	3688				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	g.chr10:33200886C>T	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"CD molecules", "Integrins"	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.1636G>A	10.37:g.33200886C>T	ENSP00000379350:p.Glu546Lys					ITGB1_ENST00000374956.4_Missense_Mutation_p.E546K|ITGB1_ENST00000302278.3_Missense_Mutation_p.E546K|ITGB1_ENST00000423113.1_Missense_Mutation_p.E546K	p.E546K	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN			12	1771	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	546			Cysteine-rich tandem repeats.		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	ENST00000396033.2	37	c.1636G>A	CCDS7174.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737797	0.69304	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956	D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86	6.07	6.07	0.98685	EGF, extracellular (1);	0.000000	0.85682	D	0.000000	D	0.90570	0.7044	L	0.55990	1.75	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.991;1.0	D;D;D;P;D	0.91635	0.999;0.997;0.999;0.785;0.999	D	0.85695	0.1309	10	0.16896	T	0.51	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	546;546;546;546;546	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	K	546	ENSP00000379350:E546K;ENSP00000388694:E546K;ENSP00000303351:E546K;ENSP00000364094:E546K	ENSP00000303351:E546K	E	-	1	0	ITGB1	33240892	1.000000	0.71417	0.977000	0.42913	0.981000	0.71138	7.743000	0.85020	2.885000	0.99019	0.655000	0.94253	GAA		0.403	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		21	106	0	0	0	0.001523	0	21	106					T	33200886	C	T	33200886	3	4	24	1	0	0	0	0	1	0	0	0	7890	835	29	2	1018	2	ITGB1	10	33200886	Missense_Mutation	SNP	C	TCGA-BJ-A28Z-01A-11D-A16O-08		33200886	102333861	16	662											
CSGALNACT2	55454	broad.mit.edu	37	chr10	43651086	43651086	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttcaattggaaatgggtctCactcgccatcctgaagaaaa	8	9	2	2			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr10:43651086C>T	ENST00000374466.3	+	2	824	c.489C>T	c.(487-489)ctC>ctT	p.L163L	CSGALNACT2_ENST00000374464.1_Silent_p.L163L	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	163					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AAATGGGTCTCACTCGCCATC	0.413																																						ENST00000374466.3																			0				endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(487-489)ctC>ctT		chondroitin sulfate N-acetylgalactosaminyltransferase 2							95	95	95					10																	43651086		2203	4300	6503	SO:0001819	synonymous_variant	55454				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr10:43651086C>T	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"Beta 4-glycosyltransferases"	24292	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.489C>T	10.37:g.43651086C>T						CSGALNACT2_ENST00000374464.1_Silent_p.L163L	p.L163L	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN			2	824	+			163					B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Silent	SNP	ENST00000374466.3	37	c.489C>T	CCDS7201.1																																																																																				0.413	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		14	65	0	0	0	0.003163	0	14	65					T	43651086	C	T	43651086	2	4	24	1	0	0	0	0	0	0	0	1	3939	813	29	2		2	CSGALNACT2	10	43651086	Silent	SNP	C	TCGA-BJ-A28Z-01A-11D-A16O-08	10450200	43651086	91883661	17	663											
OR4D9	390199	broad.mit.edu	37	chr11	59283197	59283197	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctccccacagacactgccaTctctgtcaccttcactgtca	4	19	4	1			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr11:59283197T>A	ENST00000329328.3	+	1	812	c.812T>A	c.(811-813)aTc>aAc	p.I271N		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						GACACTGCCATCTCTGTCACC	0.532																																						ENST00000329328.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						c.(811-813)aTc>aAc		olfactory receptor, family 4, subfamily D, member 9							203	187	193					11																	59283197		2201	4295	6496	SO:0001583	missense	390199				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59283197T>A	AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"GPCR / Class A : Olfactory receptors"	15178	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily D, member 9 pseudogene"				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.812T>A	11.37:g.59283197T>A	ENSP00000328563:p.Ile271Asn						p.I271N	NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN			1	812	+			271					Q6IFF3	Missense_Mutation	SNP	ENST00000329328.3	37	c.812T>A	CCDS31564.1	.	.	.	.	.	.	.	.	.	.	T	14.17	2.454887	0.43634	.	.	ENSG00000172742	ENST00000329328	T	0.42513	0.97	4.26	3.1	0.35709	GPCR, rhodopsin-like superfamily (1);	0.352642	0.20367	U	0.093737	T	0.62466	0.2430	M	0.84433	2.695	0.22412	N	0.999127	D	0.56521	0.976	P	0.62089	0.898	T	0.56080	-0.8038	10	0.87932	D	0	-10.5019	10.0764	0.42362	0.0:0.0:0.1694:0.8306	.	271	Q8NGE8	OR4D9_HUMAN	N	271	ENSP00000328563:I271N	ENSP00000328563:I271N	I	+	2	0	OR4D9	59039773	0.000000	0.05858	0.530000	0.27963	0.770000	0.43624	0.373000	0.20484	0.576000	0.29452	0.460000	0.39030	ATC		0.532	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1	NM_001004711		45	207	0	0	0	0.002222	0	45	207					A	59283197	T	A	59283197	3	1	24	1	0	0	0	0	1	0	0	0	11059	1435	50	5	814	5	OR4D9	11	59283197	Missense_Mutation	SNP	T	TCGA-BJ-A28Z-01A-11D-A16O-08		59283197	75723319	18	664											
EHD1	10938	broad.mit.edu	37	chr11	64622296	64622296	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagcttgggcttcagcgcctGgaacttgctgaagtcctggg	14	11	1	1			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr11:64622296G>C	ENST00000320631.3	-	5	1368	c.1114C>G	c.(1114-1116)Cag>Gag	p.Q372E	EHD1_ENST00000488711.1_5'UTR|EHD1_ENST00000359393.2_Missense_Mutation_p.Q372E	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	372					blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						TTCAGCGCCTGGAACTTGCTG	0.642																																						ENST00000320631.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						c.(1114-1116)Cag>Gag		EH-domain containing 1							182	177	179					11																	64622296		2201	4297	6498	SO:0001583	missense	10938				blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr11:64622296G>C	AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"EF-hand domain containing"	3242	protein-coding gene	gene with protein product	"testilin"	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.1114C>G	11.37:g.64622296G>C	ENSP00000320516:p.Gln372Glu					EHD1_ENST00000488711.1_5'UTR|EHD1_ENST00000359393.2_Missense_Mutation_p.Q372E	p.Q372E	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN			5	1368	-			372					O14611|Q2M3Q4|Q9UNR3	Missense_Mutation	SNP	ENST00000320631.3	37	c.1114C>G	CCDS8084.1	.	.	.	.	.	.	.	.	.	.	G	6.616	0.482159	0.12581	.	.	ENSG00000110047	ENST00000320631;ENST00000359393;ENST00000541001;ENST00000421303;ENST00000421510	T;T;T	0.41400	2.32;2.32;1.0	4.32	4.32	0.51571	.	0.251404	0.40064	N	0.001199	T	0.26882	0.0658	N	0.25825	0.765	0.42629	D	0.993376	B;B	0.17268	0.021;0.021	B;B	0.17098	0.017;0.017	T	0.08411	-1.0723	10	0.02654	T	1	.	14.3322	0.66564	0.0:0.0:1.0:0.0	.	372;372	B2R5U3;Q9H4M9	.;EHD1_HUMAN	E	372;372;348;386;236	ENSP00000320516:Q372E;ENSP00000352354:Q372E;ENSP00000391429:Q236E	ENSP00000320516:Q372E	Q	-	1	0	EHD1	64378872	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.230000	0.58632	2.263000	0.75096	0.561000	0.74099	CAG		0.642	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143229.2	NM_006795		57	209	0	0	0	0.00361	0	57	209					C	64622296	G	C	64622296	3	2	24	1	0	0	0	0	1	0	0	0	4977	1357	47	4	494	4	EHD1	11	64622296	Missense_Mutation	SNP	G	TCGA-BJ-A28Z-01A-11D-A16O-08	5339099	64622296	70384220	19	665											
SMARCC2	6601	broad.mit.edu	37	chr12	56571852	56571852	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gccgttgaagaactcggggaGagccctccgctcaatggcat	13	12	1	3			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr12:56571852G>C	ENST00000267064.4	-	15	1422	c.1336C>G	c.(1336-1338)Ctc>Gtc	p.L446V	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Missense_Mutation_p.L446V|SMARCC2_ENST00000550164.1_Missense_Mutation_p.L446V|SMARCC2_ENST00000394023.3_Missense_Mutation_p.L446V	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	446	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AACTCGGGGAGAGCCCTCCGC	0.512																																						ENST00000394023.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(1336-1338)Ctc>Gtc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2							130	121	124					12																	56571852		2203	4300	6503	SO:0001583	missense	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56571852G>C	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.1336C>G	12.37:g.56571852G>C	ENSP00000267064:p.Leu446Val					RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Missense_Mutation_p.L446V|SMARCC2_ENST00000550164.1_Missense_Mutation_p.L446V|SMARCC2_ENST00000267064.4_Missense_Mutation_p.L446V	p.L446V	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		15	1441	-			446			SWIRM.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	c.1336C>G	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194055	0.78902	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T	0.59502	0.26;0.27;0.28	4.08	4.08	0.47627	Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);SWIRM (2);	0.075949	0.50627	D	0.000111	T	0.71986	0.3405	M	0.75884	2.315	0.48762	D	0.9997	D;D;D;D;D	0.69078	0.997;0.974;0.979;0.997;0.974	D;D;D;D;D	0.76071	0.987;0.953;0.973;0.987;0.953	T	0.73668	-0.3910	10	0.62326	D	0.03	-13.438	9.8703	0.41170	0.0974:0.0:0.9026:0.0	.	335;446;451;446;446	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	V	446	ENSP00000449396:L446V;ENSP00000302919:L446V;ENSP00000267064:L446V	ENSP00000267064:L446V	L	-	1	0	SMARCC2	54858119	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	5.298000	0.65710	2.582000	0.87167	0.655000	0.94253	CTC		0.512	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			7	30	0	0	0	0.00308	0	7	30					C	56571852	G	C	56571852	3	2	24	1	0	0	0	0	1	0	0	0	14776	942	33	4	2461	4	SMARCC2	12	56571852	Missense_Mutation	SNP	G	TCGA-BJ-A28Z-01A-11D-A16O-08		56571852	77280043	20	666											
TMTC2	160335	broad.mit.edu	37	chr12	83289743	83289743	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctgattcggacagcctcctCacccgcactctcaccttctt	6	18	3	1	rs143764076		TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr12:83289743C>T	ENST00000321196.3	+	3	1508	c.801C>T	c.(799-801)ctC>ctT	p.L267L	TMTC2_ENST00000549919.1_Silent_p.L261L|TMTC2_ENST00000548305.1_Silent_p.L267L	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	267					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						ACAGCCTCCTCACCCGCACTC	0.532																																						ENST00000549919.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						c.(781-783)ctC>ctT		transmembrane and tetratricopeptide repeat containing 2							140	130	133					12																	83289743		2203	4300	6503	SO:0001819	synonymous_variant	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83289743C>T	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"Tetratricopeptide (TTC) repeat domain containing"	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.801C>T	12.37:g.83289743C>T						TMTC2_ENST00000548305.1_Silent_p.L267L|TMTC2_ENST00000321196.3_Silent_p.L267L	p.L261L			Q8N394	TMTC2_HUMAN			4	2588	+			267					B2RCU7|Q8N2K8	Silent	SNP	ENST00000321196.3	37	c.783C>T	CCDS9025.1																																																																																				0.532	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		35	160	0	0	0	0.004878	0	35	160					T	83289743	C	T	83289743	2	4	24	1	0	0	0	0	0	0	0	1	16258	813	29	2		2	TMTC2	12	83289743	Silent	SNP	C	TCGA-BJ-A28Z-01A-11D-A16O-08	26717891	83289743	50562152	21	667											
PAN3	255967	broad.mit.edu	37	chr13	28851441	28851441	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caactctttggcaggaattcAgcgagagaatttacagaaag	10	7	2	2			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr13:28851441A>G	ENST00000380958.3	+	15	2269	c.2117A>G	c.(2116-2118)cAg>cGg	p.Q706R	PAN3_ENST00000399613.1_Missense_Mutation_p.Q506R|PAN3_ENST00000282391.5_Missense_Mutation_p.Q394R	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GCAGGAATTCAGCGAGAGAAT	0.338																																						ENST00000399613.1																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1516-1518)cAg>cGg		PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							109	113	112					13																	28851441		2203	4300	6503	SO:0001583	missense	255967				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	g.chr13:28851441A>G	AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.2117A>G	13.37:g.28851441A>G	ENSP00000370345:p.Gln706Arg					PAN3_ENST00000380958.3_Missense_Mutation_p.Q706R|PAN3_ENST00000282391.5_Missense_Mutation_p.Q394R	p.Q506R			Q58A45	PAN3_HUMAN	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	14	1580	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	706			Interaction with PAN2.|Protein kinase.			Missense_Mutation	SNP	ENST00000380958.3	37	c.1517A>G	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	A	22.4	4.289647	0.80914	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	T;T;T	0.40225	1.04;1.04;1.04	5.81	5.81	0.92471	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.59197	0.2176	L	0.56124	1.755	0.80722	D	1	D;D;D	0.71674	0.997;0.989;0.998	D;D;D	0.80764	0.99;0.979;0.994	T	0.54091	-0.8345	10	0.27785	T	0.31	-7.7026	16.1699	0.81801	1.0:0.0:0.0:0.0	.	706;394;652	Q58A45;Q58A45-2;Q58A45-3	PAN3_HUMAN;.;.	R	706;506;394	ENSP00000370345:Q706R;ENSP00000382522:Q506R;ENSP00000282391:Q394R	ENSP00000282391:Q394R	Q	+	2	0	PAN3	27749441	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.217000	0.71921	0.533000	0.62120	CAG		0.338	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854		3	109	0	0	0	0.000248	0	3	109					G	28851441	A	G	28851441	3	3	24	1	0	0	0	0	1	0	0	0	11415	188	7	3	2175	3	PAN3	13	28851441	Missense_Mutation	SNP	A	TCGA-BJ-A28Z-01A-11D-A16O-08		28851441	86318437	22	668											
GPC5	2262	broad.mit.edu	37	chr13	92345516	92345516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtacctacaggaacatggCcttggaggctgctgcttcgg	13	11	0	0			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr13:92345516C>T	ENST00000377067.3	+	3	773	c.401C>T	c.(400-402)gCc>gTc	p.A134V		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	134					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AGGAACATGGCCTTGGAGGCT	0.403																																						ENST00000377067.3																			0				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(400-402)gCc>gTc		glypican 5							119	123	121					13																	92345516		2203	4300	6503	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92345516C>T	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"Proteoglycans / Cell Surface : Glypicans"	4453	protein-coding gene	gene with protein product	"glypican proteoglycan 5"	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.401C>T	13.37:g.92345516C>T	ENSP00000366267:p.Ala134Val						p.A134V	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN			3	773	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	134					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.401C>T	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360843	0.82353	.	.	ENSG00000179399	ENST00000377067	T	0.47177	0.85	5.07	5.07	0.68467	.	0.115012	0.64402	D	0.000015	T	0.67040	0.2851	M	0.79258	2.445	0.43018	D	0.994563	P	0.46952	0.887	P	0.57548	0.823	T	0.72200	-0.4362	10	0.72032	D	0.01	.	17.4374	0.87555	0.0:1.0:0.0:0.0	.	134	P78333	GPC5_HUMAN	V	134	ENSP00000366267:A134V	ENSP00000366267:A134V	A	+	2	0	GPC5	91143517	1.000000	0.71417	0.990000	0.47175	0.961000	0.63080	5.920000	0.70017	2.351000	0.79841	0.467000	0.42956	GCC		0.403	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		20	84	0	0	0	0.001523	0	20	84					T	92345516	C	T	92345516	3	4	24	1	0	0	0	0	1	0	0	0	6601	739	26	2	411	2	GPC5	13	92345516	Missense_Mutation	SNP	C	TCGA-BJ-A28Z-01A-11D-A16O-08	63494075	92345516	22824362	23	669											
ABCA3	21	broad.mit.edu	37	chr16	2358593	2358593	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggatgtaggtgaagaagtaGaggaagcctccgaaggctgc	17	6	0	3			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr16:2358593G>A	ENST00000301732.5	-	11	1843	c.1143C>T	c.(1141-1143)ctC>ctT	p.L381L	ABCA3_ENST00000382381.3_Intron	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	381					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	TGAAGAAGTAGAGGAAGCCTC	0.602																																						ENST00000301732.5																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(1141-1143)ctC>ctT		ATP-binding cassette, sub-family A (ABC1), member 3							106	90	96					16																	2358593		2198	4300	6498	SO:0001819	synonymous_variant	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2358593G>A	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.1143C>T	16.37:g.2358593G>A						ABCA3_ENST00000382381.3_Intron	p.L381L	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			11	1843	-		Ovarian(90;0.17)	381					B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	c.1143C>T	CCDS10466.1																																																																																				0.602	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		17	67	0	0	0	0.007413	0	17	67					A	2358593	G	A	2358593	2	1	24	1	0	0	0	0	0	0	0	1	33	929	33	2		2	ABCA3	16	2358593	Silent	SNP	G	TCGA-BJ-A28Z-01A-11D-A16O-08		2358593	87996160	24	670											
NUBP1	4682	broad.mit.edu	37	chr16	10855244	10855244	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gtgtcactccaggatgtccgGaaagaaatcaacttctgccg	10	11	3	1			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr16:10855244G>C	ENST00000283027.5	+	8	649	c.630G>C	c.(628-630)cgG>cgC	p.R210R	TVP23A_ENST00000572980.1_5'UTR|NUBP1_ENST00000571790.1_3'UTR|NUBP1_ENST00000433392.2_Silent_p.R199R	NM_002484.2	NP_002475.2			nucleotide binding protein 1											large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						AGGATGTCCGGAAAGAAATCA	0.537																																						ENST00000283027.5																			0				large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						c.(628-630)cgG>cgC		nucleotide binding protein 1							108	94	99					16																	10855244		2197	4300	6497	SO:0001819	synonymous_variant	4682				cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding	g.chr16:10855244G>C	U01833	CCDS10543.1, CCDS61839.1	16p13.13	2014-01-13	2011-05-19		ENSG00000103274	ENSG00000103274			8041	protein-coding gene	gene with protein product		600280	"nucleotide binding protein 1 (E.coli MinD like)", "nucleotide binding protein 1 (MinD homolog, E. coli)"	NBP1		7926816	Standard	NM_002484		Approved	NBP35	uc002daa.1	P53384	OTTHUMG00000129751	ENST00000283027.5:c.630G>C	16.37:g.10855244G>C						TVP23A_ENST00000572980.1_5'UTR|NUBP1_ENST00000571790.1_3'UTR|NUBP1_ENST00000433392.2_Silent_p.R199R	p.R210R	NM_002484.2	NP_002475.2	P53384	NUBP1_HUMAN			8	649	+			210						Silent	SNP	ENST00000283027.5	37	c.630G>C	CCDS10543.1																																																																																				0.537	NUBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251964.2	NM_002484		19	47	0	0	0	0.007413	0	19	47					C	10855244	G	C	10855244	2	2	24	1	0	0	0	0	0	0	0	1	10715	1161	41	4		4	NUBP1	16	10855244	Silent	SNP	G	TCGA-BJ-A28Z-01A-11D-A16O-08	8496651	10855244	79499509	25	671											
MYOCD	93649	broad.mit.edu	37	chr17	12656261	12656261	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggatgcagcttcagaagcaGaaaaggaataactgttcaga	11	6	2	3			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr17:12656261G>A	ENST00000343344.4	+	10	1656	c.1656G>A	c.(1654-1656)caG>caA	p.Q552Q	AC005358.1_ENST00000609971.1_Silent_p.Q456Q|MYOCD_ENST00000425538.1_Silent_p.Q552Q|MYOCD_ENST00000395988.1_3'UTR			Q8IZQ8	MYCD_HUMAN	myocardin	552					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TTCAGAAGCAGAAAAGGAATA	0.522																																						ENST00000425538.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(1654-1656)caG>caA		myocardin							37	39	38					17																	12656261		2203	4300	6503	SO:0001819	synonymous_variant	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12656261G>A	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1656G>A	17.37:g.12656261G>A						MYOCD_ENST00000343344.4_Silent_p.Q552Q|MYOCD_ENST00000395988.1_Silent_p.Q456Q	p.Q552Q	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	10	1856	+			552					Q5UBU5|Q8N7Q1	Silent	SNP	ENST00000343344.4	37	c.1656G>A	CCDS11163.1																																																																																				0.522	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		7	51	0	0	0	0.00308	0	7	51					A	12656261	G	A	12656261	2	1	24	1	0	0	0	0	0	0	0	1	10087	933	33	2		2	MYOCD	17	12656261	Silent	SNP	G	TCGA-BJ-A28Z-01A-11D-A16O-08		12656261	68538949	26	672											
ZNF236	7776	broad.mit.edu	37	chr18	74625777	74625777	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggtcgcacaccggggaaaAgccctacaagtgcaagctct	12	13	1	0			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr18:74625777A>G	ENST00000253159.8	+	18	3176	c.2978A>G	c.(2977-2979)aAg>aGg	p.K993R	ZNF236_ENST00000320610.9_Missense_Mutation_p.K995R	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	993					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)		ACCGGGGAAAAGCCCTACAAG	0.517																																						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.(2977-2979)aAg>aGg		zinc finger protein 236							96	103	101					18																	74625777		1979	4170	6149	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74625777A>G	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.2978A>G	18.37:g.74625777A>G	ENSP00000253159:p.Lys993Arg					ZNF236_ENST00000320610.9_Missense_Mutation_p.K995R	p.K993R	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	18	3176	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	993					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.2978A>G	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	A	16.57	3.160992	0.57368	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.24908	1.83;1.83	4.98	3.82	0.43975	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.059365	0.64402	D	0.000005	T	0.15176	0.0366	N	0.12443	0.215	0.51233	D	0.999918	B	0.29162	0.235	B	0.29524	0.103	T	0.07121	-1.0789	10	0.72032	D	0.01	.	10.5053	0.44830	0.9237:0.0:0.0763:0.0	.	993	Q9UL36	ZN236_HUMAN	R	993	ENSP00000253159:K993R;ENSP00000444524:K993R	ENSP00000253159:K993R	K	+	2	0	ZNF236	72754765	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	7.191000	0.77763	0.763000	0.33175	-0.464000	0.05259	AAG		0.517	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			3	111	0	0	0	0.004672	0	3	111					G	74625777	A	G	74625777	3	3	24	1	0	0	0	0	1	0	0	0	17786	72	3	3	3048	3	ZNF236	18	74625777	Missense_Mutation	SNP	A	TCGA-BJ-A28Z-01A-11D-A16O-08		74625777	3451471	27	673											
SRPX	8406	broad.mit.edu	37	chrX	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-													gctgcggctgggcgggacgcGcagcagcagcagcagcagca					rs35523939|rs72249350|rs139109693		TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)ctgcgc>cgc	p.L23del	RP13-43E11.1_ENST00000423919.1_RNA|SRPX_ENST00000343800.6_Intron|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000544439.1_In_Frame_Del_p.L23del|SRPX_ENST00000432886.2_In_Frame_Del_p.L23del|SRPX_ENST00000538295.1_In_Frame_Del_p.L23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:8634709, ECO:0000269|PubMed:9162095}.		autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		636	0.168477	0.1657	0.1398	3775	,	,		8591	0.0129		0.2028	False		,,,				2504	0.1053					ENST00000378533.3																			2	Deletion - In frame(2)	p.L23delL(2)	prostate(2)	autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						c.(67-72)cgc>c		sushi-repeat containing protein, X-linked																																				SO:0001651	inframe_deletion	8406				cell adhesion	cell surface|membrane		g.chrX:38079976_38079978delGCA	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"sushi-repeat-containing protein, X chromosome", "sushi-repeat-containing protein, X-linked"			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.68_70delTGC	X.37:g.38079985_38079987delGCA	ENSP00000367794:p.Leu23del		OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	SRPX_ENST00000343800.6_Intron|SRPX_ENST00000432886.2_In_Frame_Del_p.LR23del|SRPX_ENST00000544439.1_In_Frame_Del_p.LR23del|SRPX_ENST00000538295.1_In_Frame_Del_p.LR23del|TM4SF2_ENST00000465127.1_Intron	p.LR23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN			1	174_176	-			23		Missing.			A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	In_Frame_Del	DEL	ENST00000378533.3	37	c.68_70delTGC	CCDS14245.1																																																																																				0.729	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307		6	8						6	8	---	---	---	---	-	38079978	GCA	-	38079976	7	5	24	1	0	1	0	1	0	0	0	0	15163	1087	38	0	1364	0	SRPX	23	38079976	In_Frame_Del	DEL	GCA	TCGA-BJ-A28Z-01A-11D-A16O-08		38079976	117190584	28	674											
SDF4	51150	broad.mit.edu	37	chr1	1152973	1152973	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtacttgagcacctcctcGggctccaggtggtggttctg	13	12	1	1			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr1:1152973G>T	ENST00000360001.6	-	7	1270	c.1008C>A	c.(1006-1008)ccC>ccA	p.P336P	SDF4_ENST00000263741.7_3'UTR			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	336	EF-hand 6. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Necessary for intracellular retention in Golgi apparatus lumen. {ECO:0000250}.				calcium ion-dependent exocytosis (GO:0017156)|cerebellum development (GO:0021549)|fat cell differentiation (GO:0045444)|response to ethanol (GO:0045471)|UV protection (GO:0009650)|zymogen granule exocytosis (GO:0070625)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|late endosome (GO:0005770)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	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)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		GCACCTCCTCGGGCTCCAGGT	0.642																																						ENST00000360001.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1006-1008)ccC>ccA		stromal cell derived factor 4							95	100	98					1																	1152973		2203	4299	6502	SO:0001819	synonymous_variant	51150				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding	g.chr1:1152973G>T		CCDS12.1, CCDS30553.1	1p36.33	2013-01-10			ENSG00000078808	ENSG00000078808		"EF-hand domain containing"	24188	protein-coding gene	gene with protein product	"calcium binding protein"	614282				9254016, 8609160	Standard	NM_016176		Approved	Cab45	uc001adh.4	Q9BRK5	OTTHUMG00000001812	ENST00000360001.6:c.1008C>A	1.37:g.1152973G>T						SDF4_ENST00000263741.7_3'UTR	p.P336P			Q9BRK5	CAB45_HUMAN		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)	7	1270	-	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)	336			EF-hand 6.|Necessary for intracellular retention in Golgi apparatus lumen (By similarity).		B1AME5|B1AME6|B2RDF1|B4DSM1|Q53G52|Q53HQ9|Q8NBQ3|Q96AA1|Q9NZP7|Q9UN53	Silent	SNP	ENST00000360001.6	37	c.1008C>A	CCDS30553.1																																																																																				0.642	SDF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005064.1	NM_016176		4	77	1	0	0.000602214	0.000602214	0.00828329	4	77					T	1152973	G	T	1152973	2	4	25	1	0	0	0	0	0	0	0	1	13962	1103	39	4		4	SDF4	1	1152973	Silent	SNP	G	TCGA-BJ-A290-01A-11D-A17V-08		1152973	248097648	1	675											
RPTN	126638	broad.mit.edu	37	chr1	152128205	152128208	+	Frame_Shift_Del	DEL	TGTC	TGTC	-													catagtgggaactctggcctTgtctgtctgtctgaccatag							TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr1:152128205_152128208delTGTC	ENST00000316073.3	-	3	1431_1434	c.1367_1370delGACA	c.(1366-1371)agacaafs	p.RQ456fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	456	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.52																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1366-1371)aafs		repetin																																				SO:0001589	frameshift_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128205_152128208delTGTC	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1367_1370delGACA	1.37:g.152128213_152128216delTGTC	ENSP00000317895:p.Arg456fs						p.RQ456fs	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1431_1434	-			456			Gln-rich.		B7ZBZ3	Frame_Shift_Del	DEL	ENST00000316073.3	37	c.1367_1370delGACA	CCDS41397.1																																																																																				0.52	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		11	1497						11	1497	---	---	---	---	-	152128208	TGTC	-	152128205	7	5	25	1	0	1	0	1	0	0	0	0	13664	1812	63	0	988	0	RPTN	1	152128205	Frame_Shift_Del	DEL	TGTC	TCGA-BJ-A290-01A-11D-A17V-08	150975232	152128205	97122416	2	676											
OR2G3	81469	broad.mit.edu	37	chr1	247769085	247769085	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tacttttttctcagcaacctCtctttactggacatctgctt	4	12	3	0			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr1:247769085C>G	ENST00000320002.2	+	1	230	c.198C>G	c.(196-198)ctC>ctG	p.L66L	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA|RNU6-691P_ENST00000516585.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	66						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(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCAGCAACCTCTCTTTACTGG	0.458																																						ENST00000320002.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50						c.(196-198)ctC>ctG		olfactory receptor, family 2, subfamily G, member 3							276	262	267					1																	247769085		2203	4300	6503	SO:0001819	synonymous_variant	81469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247769085C>G	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"GPCR / Class A : Olfactory receptors"	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.198C>G	1.37:g.247769085C>G						RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	p.L66L	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	230	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		66					B2RN64|Q5JQT1|Q6IF45	Silent	SNP	ENST00000320002.2	37	c.198C>G	CCDS31093.1																																																																																				0.458	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1			4	324	0	0	0	0.00024832	0	4	324					G	247769085	C	G	247769085	2	3	25	1	0	0	0	0	0	0	0	1	10999	900	32	4		4	OR2G3	1	247769085	Silent	SNP	C	TCGA-BJ-A290-01A-11D-A17V-08	95640880	247769085	1481536	3	677											
PLCL1	5334	broad.mit.edu	37	chr2	198949565	198949565	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaaatgggctgtcgaagcGttgaactcgatgtaagtgat	13	5	0	3	rs201197388		TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr2:198949565G>A	ENST00000428675.1	+	2	1722	c.1324G>A	c.(1324-1326)Gtt>Att	p.V442I	PLCL1_ENST00000437704.2_Missense_Mutation_p.V344I	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	442	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CTGTCGAAGCGTTGAACTCGA	0.408																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(1324-1326)Gtt>Att		phospholipase C-like 1	Quinacrine(DB01103)	G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	62	59	60		1324	1.0	1.0	2		60	0,8600		0,0,4300	no	missense	PLCL1	NM_006226.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	442/1096	198949565	1,13005	2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198949565G>A	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1324G>A	2.37:g.198949565G>A	ENSP00000402861:p.Val442Ile					PLCL1_ENST00000437704.2_Missense_Mutation_p.V344I	p.V442I	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	1722	+			442			PI-PLC X-box.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.1324G>A	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	g	2.384	-0.341507	0.05243	2.27E-4	0.0	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.55413	0.52;0.52	5.94	1.05	0.20165	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.279290	0.31031	N	0.008399	T	0.30696	0.0773	N	0.13235	0.315	0.22940	N	0.998531	B;B	0.21147	0.052;0.021	B;B	0.24006	0.05;0.05	T	0.18871	-1.0323	9	.	.	.	.	9.6222	0.39727	0.7455:0.0:0.2545:0.0	.	442;368	Q15111;B4DYZ4	PLCL1_HUMAN;.	I	442;344	ENSP00000402861:V442I;ENSP00000414138:V344I	.	V	+	1	0	PLCL1	198657810	1.000000	0.71417	0.998000	0.56505	0.621000	0.37620	2.516000	0.45520	0.161000	0.19458	-0.405000	0.06341	GTT		0.408	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		38	30	0	0	0	0.000109025	0	38	30					A	198949565	G	A	198949565	3	1	25	1	0	0	0	0	1	0	0	0	12039	1145	40	1	1330	1	PLCL1	2	198949565	Missense_Mutation	SNP	G	TCGA-BJ-A290-01A-11D-A17V-08		198949565	44249808	4	678											
COL6A3	1293	broad.mit.edu	37	chr2	238280733	238280733	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agggcattgcccacgttgatCtgccgccctcccttgggcct	11	16	1	1	rs201240081		TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr2:238280733C>A	ENST00000295550.4	-	9	4379	c.3927G>T	c.(3925-3927)caG>caT	p.Q1309H	COL6A3_ENST00000346358.4_Missense_Mutation_p.Q1109H|COL6A3_ENST00000392003.2_Missense_Mutation_p.Q902H|COL6A3_ENST00000347401.3_Missense_Mutation_p.Q1108H|COL6A3_ENST00000353578.4_Missense_Mutation_p.Q1103H|COL6A3_ENST00000409809.1_Missense_Mutation_p.Q1103H|COL6A3_ENST00000392004.3_Missense_Mutation_p.Q1103H|COL6A3_ENST00000472056.1_Missense_Mutation_p.Q702H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1309	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCACGTTGATCTGCCGCCCTC	0.617																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(3925-3927)caG>caT		collagen, type VI, alpha 3							61	54	56					2																	238280733		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238280733C>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3927G>T	2.37:g.238280733C>A	ENSP00000295550:p.Gln1309His					COL6A3_ENST00000392003.2_Missense_Mutation_p.Q902H|COL6A3_ENST00000392004.3_Missense_Mutation_p.Q1103H|COL6A3_ENST00000353578.4_Missense_Mutation_p.Q1103H|COL6A3_ENST00000347401.3_Missense_Mutation_p.Q1108H|COL6A3_ENST00000346358.4_Missense_Mutation_p.Q1109H|COL6A3_ENST00000472056.1_Missense_Mutation_p.Q702H|COL6A3_ENST00000409809.1_Missense_Mutation_p.Q1103H	p.Q1309H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	9	4379	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1309			Nonhelical region.|VWFA 7.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.3927G>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.891762	0.33442	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	D;D;D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.84	2.57	0.30868	von Willebrand factor, type A (3);	0.000000	0.51477	D	0.000083	D	0.85699	0.5757	L	0.58428	1.81	0.09310	N	0.999997	D;P;P;D;D	0.71674	0.997;0.747;0.869;0.997;0.998	D;P;P;D;D	0.77557	0.99;0.866;0.89;0.967;0.956	T	0.73930	-0.3827	10	0.41790	T	0.15	.	4.9214	0.13871	0.1382:0.525:0.0:0.3368	.	702;902;1103;1103;1309	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	H	1309;1108;1103;702;1103;1109;1103;902	ENSP00000295550:Q1309H;ENSP00000315609:Q1108H;ENSP00000315873:Q1103H;ENSP00000418285:Q702H;ENSP00000386844:Q1103H;ENSP00000295546:Q1109H;ENSP00000375861:Q1103H;ENSP00000375860:Q902H	ENSP00000295550:Q1309H	Q	-	3	2	COL6A3	237945472	0.000000	0.05858	0.336000	0.25522	0.367000	0.29736	-0.915000	0.04033	0.689000	0.31550	0.655000	0.94253	CAG		0.617	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		26	80	1	0	3.65163e-15	0.000147802	7.12412e-14	26	80					A	238280733	C	A	238280733	3	1	25	1	0	0	0	0	1	0	0	0	3701	912	32	4	5797	4	COL6A3	2	238280733	Missense_Mutation	SNP	C	TCGA-BJ-A290-01A-11D-A17V-08	39331168	238280733	4918640	5	679											
KBTBD8	84541	broad.mit.edu	37	chr3	67058637	67058637	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgagctactcaagtgactgTtgaagaacacgtcttcagaa	9	9	3	4			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr3:67058637T>C	ENST00000417314.2	+	4	1683	c.1634T>C	c.(1633-1635)gTt>gCt	p.V545A	KBTBD8_ENST00000295568.4_Missense_Mutation_p.V519A|KBTBD8_ENST00000460576.1_Missense_Mutation_p.V103A			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	545						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		CAAGTGACTGTTGAAGAACAC	0.403																																						ENST00000295568.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20						c.(1555-1557)gTt>gCt		kelch repeat and BTB (POZ) domain containing 8							112	109	110					3																	67058637		2203	4300	6503	SO:0001583	missense	84541							g.chr3:67058637T>C	AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"BTB/POZ domain containing"	30691	protein-coding gene	gene with protein product	"T-cell activation kelch repeat protein"					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.1634T>C	3.37:g.67058637T>C	ENSP00000401878:p.Val545Ala					KBTBD8_ENST00000460576.1_Missense_Mutation_p.V103A|KBTBD8_ENST00000417314.2_Missense_Mutation_p.V545A	p.V519A	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)	4	1687	+		Lung NSC(201;0.0765)	545					B4DTW6|Q96JI5	Missense_Mutation	SNP	ENST00000417314.2	37	c.1556T>C	CCDS2906.2	.	.	.	.	.	.	.	.	.	.	T	15.53	2.861749	0.51482	.	.	ENSG00000163376	ENST00000295568;ENST00000460576;ENST00000417314	T;T;T	0.71934	-0.61;-0.48;-0.61	5.37	5.37	0.77165	Kelch-type beta propeller (1);	1.149780	0.06215	N	0.685764	T	0.66406	0.2786	N	0.24115	0.695	0.80722	D	1	P;P	0.49961	0.915;0.93	B;P	0.48627	0.441;0.584	T	0.54173	-0.8333	10	0.08599	T	0.76	.	15.3743	0.74593	0.0:0.0:0.0:1.0	.	103;545	B4DTW6;Q8NFY9	.;KBTB8_HUMAN	A	519;103;545	ENSP00000295568:V519A;ENSP00000419738:V103A;ENSP00000401878:V545A	ENSP00000295568:V519A	V	+	2	0	KBTBD8	67141327	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.008000	0.88588	2.041000	0.60428	0.528000	0.53228	GTT		0.403	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	NM_032505		9	79	0	0	0	0.000442599	0	9	79					C	67058637	T	C	67058637	3	2	25	1	0	0	0	0	1	0	0	0	7999	1725	60	3	1648	3	KBTBD8	3	67058637	Missense_Mutation	SNP	T	TCGA-BJ-A290-01A-11D-A17V-08		67058637	130963793	6	680											
ZIC1	7545	broad.mit.edu	37	chr3	147128058	147128058	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaagctcaaccccagttcGcacgagctggcttcggccgg	11	15	2	0			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr3:147128058G>A	ENST00000282928.4	+	1	888	c.159G>A	c.(157-159)tcG>tcA	p.S53S		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	53					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						ACCCCAGTTCGCACGAGCTGG	0.721																																						ENST00000282928.4																			0				central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						c.(157-159)tcG>tcA		Zic family member 1							28	31	30					3																	147128058		2198	4293	6491	SO:0001819	synonymous_variant	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128058G>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"Zinc fingers, C2H2-type"	12872	protein-coding gene	gene with protein product		600470	"Zic family member 1 (odd-paired Drosophila homolog)", "Zic family member 1 (odd-paired homolog, Drosophila)"			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.159G>A	3.37:g.147128058G>A							p.S53S	NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN			1	888	+			53					Q2M3N1	Silent	SNP	ENST00000282928.4	37	c.159G>A	CCDS3136.1																																																																																				0.721	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		22	33	0	0	0	0.000229342	0	22	33					A	147128058	G	A	147128058	2	1	25	1	0	0	0	0	0	0	0	1	17675	1074	38	1		1	ZIC1	3	147128058	Silent	SNP	G	TCGA-BJ-A290-01A-11D-A17V-08	80069421	147128058	50894372	7	681											
HTR3C	170572	broad.mit.edu	37	chr3	183777419	183777419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctccctgccagtggcaccCccctcatcagtatggctcct	8	18	2	0			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr3:183777419C>T	ENST00000318351.1	+	7	950	c.916C>T	c.(916-918)Ccc>Tcc	p.P306S		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	306					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CAGTGGCACCCCCCTCATCAG	0.582																																						ENST00000318351.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32						c.(916-918)Ccc>Tcc		5-hydroxytryptamine (serotonin) receptor 3C, ionotropic							135	123	127					3																	183777419		2203	4300	6503	SO:0001583	missense	170572					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183777419C>T	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24003	protein-coding gene	gene with protein product		610121	"5-hydroxytryptamine (serotonin) receptor 3, family member C"			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.916C>T	3.37:g.183777419C>T	ENSP00000322617:p.Pro306Ser						p.P306S	NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		7	950	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		306					A2RRR5	Missense_Mutation	SNP	ENST00000318351.1	37	c.916C>T	CCDS3250.1	.	.	.	.	.	.	.	.	.	.	.	16.16	3.045665	0.55110	.	.	ENSG00000178084	ENST00000318351	D	0.91124	-2.79	3.87	3.87	0.44632	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.131112	0.52532	N	0.000077	D	0.92031	0.7475	M	0.67625	2.065	0.44816	D	0.997822	P	0.45011	0.848	P	0.51297	0.665	D	0.92835	0.6283	10	0.66056	D	0.02	.	13.3708	0.60711	0.0:1.0:0.0:0.0	.	306	Q8WXA8	5HT3C_HUMAN	S	306	ENSP00000322617:P306S	ENSP00000322617:P306S	P	+	1	0	HTR3C	185260113	1.000000	0.71417	0.981000	0.43875	0.219000	0.24729	7.346000	0.79347	2.009000	0.58944	0.655000	0.94253	CCC		0.582	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770		10	133	0	0	0	0.00010058	0	10	133					T	183777419	C	T	183777419	3	4	25	1	0	0	0	0	1	0	0	0	7446	623	22	2	942	2	HTR3C	3	183777419	Missense_Mutation	SNP	C	TCGA-BJ-A290-01A-11D-A17V-08	36649361	183777419	14245011	8	682											
IL7R	3575	broad.mit.edu	37	chr5	35875685	35875685	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acatctttgtaagaaaccaaGaaaagtgagtgtttttggtg	10	4	1	3			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr5:35875685G>C	ENST00000303115.3	+	7	1001	c.872G>C	c.(871-873)aGa>aCa	p.R291T	IL7R_ENST00000506850.1_Missense_Mutation_p.E260Q|IL7R_ENST00000343305.4_Missense_Mutation_p.E260Q	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	291					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AAGAAACCAAGAAAAGTGAGT	0.413			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency																															ENST00000303115.3				Dom	yes		5	5p13	146661	"Mis, O"	interleukin 7 receptor	yes	Severe combined immune deficiency	L			"ALL, ETP ALL"		0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126						c.(871-873)aGa>aCa		interleukin 7 receptor							85	83	84					5																	35875685		2203	4300	6503	SO:0001583	missense	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35875685G>C	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.872G>C	5.37:g.35875685G>C	ENSP00000306157:p.Arg291Thr					IL7R_ENST00000506850.1_Missense_Mutation_p.E260Q|IL7R_ENST00000343305.4_Missense_Mutation_p.E260Q	p.R291T	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		7	1001	+	all_lung(31;0.00015)		291					B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	37	c.872G>C	CCDS3911.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.23|13.23	2.174595|2.174595	0.38413|0.38413	.|.	.|.	ENSG00000168685|ENSG00000168685	ENST00000343305;ENST00000506850;ENST00000505093|ENST00000303115;ENST00000505875	T;T|T;T	0.49139|0.32023	0.79;0.8|1.96;1.47	5.77|5.77	3.34|3.34	0.38264|0.38264	.|.	.|0.320874	.|0.33217	.|N	.|0.005160	T|T	0.15565|0.15565	0.0375|0.0375	N|N	0.14661|0.14661	0.345|0.345	0.21290|0.21290	N|N	0.999731|0.999731	B|B	0.19583|0.02656	0.037|0.0	B|B	0.14578|0.01281	0.011|0.0	T|T	0.18618|0.18618	-1.0331|-1.0331	9|10	0.34782|0.72032	T|D	0.22|0.01	-13.2858|-13.2858	3.8533|3.8533	0.08965|0.08965	0.7088:0.0:0.1059:0.1852|0.7088:0.0:0.1059:0.1852	.|.	260|291	D6RGV2|P16871	.|IL7RA_HUMAN	Q|T	260;260;63|291;57	ENSP00000345819:E260Q;ENSP00000421207:E260Q|ENSP00000306157:R291T;ENSP00000420923:R57T	ENSP00000345819:E260Q|ENSP00000306157:R291T	E|R	+|+	1|2	0|0	IL7R|IL7R	35911442|35911442	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.717000|0.717000	0.41224|0.41224	1.534000|1.534000	0.36051|0.36051	0.419000|0.419000	0.25927|0.25927	0.563000|0.563000	0.77884|0.77884	GAA|AGA		0.413	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			11	20	0	0	0	0.000151284	0	11	20					C	35875685	G	C	35875685	3	2	25	1	0	0	0	0	1	0	0	0	7705	942	33	4	898	4	IL7R	5	35875685	Missense_Mutation	SNP	G	TCGA-BJ-A290-01A-11D-A17V-08		35875685	145039575	9	683											
TTC37	9652	broad.mit.edu	37	chr5	94858951	94858951	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagctttcaaatagtatagtCctcgcctaagccaggcccat	7	13	1	0			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr5:94858951C>A	ENST00000358746.2	-	18	2010	c.1712G>T	c.(1711-1713)gGa>gTa	p.G571V	RNU6-308P_ENST00000390957.1_RNA	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	571						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						ATAGTATAGTCCTCGCCTAAG	0.393																																						ENST00000358746.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						c.(1711-1713)gGa>gTa		tetratricopeptide repeat domain 37							182	177	179					5																	94858951		2203	4300	6503	SO:0001583	missense	9652						binding	g.chr5:94858951C>A	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"Tetratricopeptide (TTC) repeat domain containing"	23639	protein-coding gene	gene with protein product		614589	"KIAA0372"	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.1712G>T	5.37:g.94858951C>A	ENSP00000351596:p.Gly571Val						p.G571V	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN			18	2010	-			571					O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	c.1712G>T	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.639611	0.87760	.	.	ENSG00000198677	ENST00000358746;ENST00000514952	T;T	0.80824	-1.42;-1.42	4.88	4.88	0.63580	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.94098	0.8108	H	0.98295	4.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96478	0.9354	10	0.72032	D	0.01	.	18.3902	0.90479	0.0:1.0:0.0:0.0	.	523;571	D6RCE2;Q6PGP7	.;TTC37_HUMAN	V	571;523	ENSP00000351596:G571V;ENSP00000423742:G523V	ENSP00000351596:G571V	G	-	2	0	TTC37	94884707	1.000000	0.71417	0.974000	0.42286	0.991000	0.79684	7.150000	0.77403	2.402000	0.81655	0.557000	0.71058	GGA		0.393	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		45	78	1	0	2.77807e-22	0.000125731	5.6324e-21	45	78					A	94858951	C	A	94858951	3	1	25	1	0	0	0	0	1	0	0	0	16702	855	30	4	3086	4	TTC37	5	94858951	Missense_Mutation	SNP	C	TCGA-BJ-A290-01A-11D-A17V-08	58983266	94858951	86056309	10	684											
SHROOM1	134549	broad.mit.edu	37	chr5	132158517	132158517	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagaagagggaagggcggctGaactggaggacaggtccctg	19	7	0	3			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr5:132158517G>A	ENST00000378679.3	-	10	3334	c.2530C>T	c.(2530-2532)Cag>Tag	p.Q844*	SHROOM1_ENST00000488072.1_5'Flank|SHROOM1_ENST00000319854.3_Nonsense_Mutation_p.Q839*|SHROOM1_ENST00000378676.1_Nonsense_Mutation_p.Q775*	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	844					actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGGGCGGCTGAACTGGAGGA	0.622																																						ENST00000378679.3																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(2530-2532)Cag>Tag		shroom family member 1							28	31	30					5																	132158517		2199	4299	6498	SO:0001587	stop_gained	134549				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding	g.chr5:132158517G>A	AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.2530C>T	5.37:g.132158517G>A	ENSP00000367950:p.Gln844*					SHROOM1_ENST00000319854.3_Nonsense_Mutation_p.Q839*|SHROOM1_ENST00000378676.1_Nonsense_Mutation_p.Q775*	p.Q844*	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		10	3334	-			844					B7WP40|B7ZL01|Q8TDP0|Q8TF41	Nonsense_Mutation	SNP	ENST00000378679.3	37	c.2530C>T	CCDS54902.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574161	0.86542	.	.	ENSG00000164403	ENST00000378679;ENST00000319854;ENST00000378676	.	.	.	4.03	-2.63	0.06133	.	1.556200	0.03641	N	0.239593	.	.	.	.	.	.	0.26134	N	0.980374	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	1.3457	4.6822	0.12741	0.0:0.2992:0.3504:0.3504	.	.	.	.	X	844;839;775	.	ENSP00000324245:Q839X	Q	-	1	0	SHROOM1	132186416	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-0.105000	0.10907	-0.478000	0.06823	-1.193000	0.01689	CAG		0.622	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1	NM_133456		15	17	0	0	0	0.000422831	0	15	17					A	132158517	G	A	132158517	4	1	25	1	0	0	0	0	0	1	0	0	14293	1299	45	2	32	2	SHROOM1	5	132158517	Nonsense_Mutation	SNP	G	TCGA-BJ-A290-01A-11D-A17V-08	37299566	132158517	48756743	11	685											
TRIM7	81786	broad.mit.edu	37	chr5	180622520	180622520	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctcccagtgatgccggccCgaggagaagccgcaggacgc	14	15	0	2			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr5:180622520C>T	ENST00000274773.7	-	7	1243	c.1182G>A	c.(1180-1182)tcG>tcA	p.S394S	CTC-338M12.6_ENST00000502812.2_RNA|TRIM7_ENST00000361809.3_Silent_p.S186S|CTC-338M12.6_ENST00000509080.1_RNA|CTC-338M12.5_ENST00000514487.1_RNA|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000393319.3_Silent_p.S212S|CTC-338M12.5_ENST00000508877.1_RNA|TRIM7_ENST00000393315.1_Silent_p.S186S|TRIM7_ENST00000422067.2_Silent_p.S186S	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	394	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		GATGCCGGCCCGAGGAGAAGC	0.706																																					Esophageal Squamous(128;2258 2308 35507 48647)	ENST00000393315.1																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17						c.(556-558)tcG>tcA		tripartite motif containing 7							23	26	25					5																	180622520		2181	4262	6443	SO:0001819	synonymous_variant	81786					cytoplasm|nucleus	zinc ion binding	g.chr5:180622520C>T	AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16278	protein-coding gene	gene with protein product	"glycogenin-interacting protein", "tripartite motif protein TRIM7"	609315	"tripartite motif-containing 7"			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.1182G>A	5.37:g.180622520C>T						CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000274773.7_Silent_p.S394S|TRIM7_ENST00000422067.2_Silent_p.S186S|TRIM7_ENST00000393319.3_Silent_p.S212S|TRIM7_ENST00000361809.3_Silent_p.S186S|TRIM7_ENST00000504241.1_5'UTR	p.S186S	NM_203296.1	NP_976041.1	Q9C029	TRIM7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)	7	1255	-	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	394					A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	Silent	SNP	ENST00000274773.7	37	c.558G>A	CCDS4462.1																																																																																				0.706	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253569.3	NM_203296		8	58	0	0	0	0.000157383	0	8	58					T	180622520	C	T	180622520	2	4	25	1	0	0	0	0	0	0	0	1	16540	639	23	1		1	TRIM7	5	180622520	Silent	SNP	C	TCGA-BJ-A290-01A-11D-A17V-08	48464003	180622520	292740	12	686											
JARID2	3720	broad.mit.edu	37	chr6	15513524	15513524	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggctggcctccactcctcCgcacgctatggcagccacga	11	17	0	0			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr6:15513524C>T	ENST00000341776.2	+	16	3565	c.3321C>T	c.(3319-3321)tcC>tcT	p.S1107S	JARID2_ENST00000397311.3_Silent_p.S935S	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	1107					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TCCACTCCTCCGCACGCTATG	0.637																																						ENST00000341776.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59						c.(3319-3321)tcC>tcT		jumonji, AT rich interactive domain 2							26	23	24					6																	15513524		2177	4232	6409	SO:0001819	synonymous_variant	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15513524C>T	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"jumonji (mouse) homolog", "Jumonji, AT rich interactive domain 2"	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.3321C>T	6.37:g.15513524C>T						JARID2_ENST00000397311.3_Silent_p.S935S	p.S1107S	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN			16	3565	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	1107					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Silent	SNP	ENST00000341776.2	37	c.3321C>T	CCDS4533.1																																																																																				0.637	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		15	14	0	0	0	0.000308642	0	15	14					T	15513524	C	T	15513524	2	4	25	1	0	0	0	0	0	0	0	1	7945	639	23	1		1	JARID2	6	15513524	Silent	SNP	C	TCGA-BJ-A290-01A-11D-A17V-08		15513524	155601543	13	687											
HIST1H1E	3008	broad.mit.edu	37	chr6	26156708	26156708	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcccgcaagtctgcaggtgcGgccaagcgcaaagcgtctgg	15	13	2	0			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr6:26156708G>C	ENST00000304218.3	+	1	150	c.90G>C	c.(88-90)gcG>gcC	p.A30A	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	30					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						CTGCAGGTGCGGCCAAGCGCA	0.642																																						ENST00000304218.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						c.(88-90)gcG>gcC		histone cluster 1, H1e							27	35	33					6																	26156708		2193	4290	6483	SO:0001819	synonymous_variant	3008				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26156708G>C	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"Histones / Replication-dependent"	4718	protein-coding gene	gene with protein product		142220	"H1 histone family, member 4", "histone 1, H1e"	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.90G>C	6.37:g.26156708G>C							p.A30A	NM_005321.2	NP_005312.1	P10412	H14_HUMAN			1	150	+			30					Q4VB25	Silent	SNP	ENST00000304218.3	37	c.90G>C	CCDS4586.1																																																																																				0.642	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		47	72	0	0	0	0.000589545	0	47	72					C	26156708	G	C	26156708	2	2	25	1	0	0	0	0	0	0	0	1	7126	1103	39	4		4	HIST1H1E	6	26156708	Silent	SNP	G	TCGA-BJ-A290-01A-11D-A17V-08	10643184	26156708	144958359	14	688											
TMEM195	392636	broad.mit.edu	37	chr7	15430321	15430321	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttgattggttcaaatgtaTtaatgggatgtgttaagcca	10	4	1	1			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr7:15430321T>C	ENST00000342526.3	-	8	966	c.797A>G	c.(796-798)aAt>aGt	p.N266S		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	266					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TTCAAATGTATTAATGGGATG	0.289																																						ENST00000342526.3																			0				breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						c.(796-798)aAt>aGt		alkylglycerol monooxygenase							125	137	133					7																	15430321		2202	4298	6500	SO:0001583	missense	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15430321T>C		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"Fatty acid hydroxylase domain containing"	33784	protein-coding gene	gene with protein product		613738	"transmembrane protein 195"	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.797A>G	7.37:g.15430321T>C	ENSP00000341662:p.Asn266Ser						p.N266S	NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN			8	966	-			266					A4D114|A6NCH5	Missense_Mutation	SNP	ENST00000342526.3	37	c.797A>G	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	T	12.70	2.016614	0.35606	.	.	ENSG00000187546	ENST00000342526	T	0.32515	1.45	5.33	4.18	0.49190	.	0.356195	0.34879	N	0.003612	T	0.28366	0.0701	L	0.54965	1.715	0.26887	N	0.967405	B	0.16802	0.019	B	0.22601	0.04	T	0.17107	-1.0380	10	0.26408	T	0.33	-14.8569	10.522	0.44924	0.0:0.0776:0.0:0.9224	.	266	Q6ZNB7	ALKMO_HUMAN	S	266	ENSP00000341662:N266S	ENSP00000341662:N266S	N	-	2	0	AGMO	15396846	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.875000	0.56108	0.977000	0.38444	0.482000	0.46254	AAT		0.289	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		56	69	0	0	0	0.000147903	0	56	69					C	15430321	T	C	15430321	3	2	25	1	0	0	0	0	1	0	0	0	16114	1493	52	3	564	3	TMEM195	7	15430321	Missense_Mutation	SNP	T	TCGA-BJ-A290-01A-11D-A17V-08		15430321	143708342	15	689											
STEAP2	261729	broad.mit.edu	37	chr7	89856412	89856412	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gattgaaaatttacccctacGactctttactctctggagag	7	10	2	2			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr7:89856412G>T	ENST00000287908.3	+	3	1013	c.620G>T	c.(619-621)cGa>cTa	p.R207L	STEAP2_ENST00000394626.1_Missense_Mutation_p.R207L|STEAP2_ENST00000394621.2_Missense_Mutation_p.R207L|STEAP2_ENST00000394629.2_Missense_Mutation_p.R207L|STEAP2_ENST00000394622.2_Missense_Mutation_p.R207L|STEAP2_ENST00000402625.2_Missense_Mutation_p.R207L|STEAP2_ENST00000394632.1_Missense_Mutation_p.R207L	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	207					copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TTACCCCTACGACTCTTTACT	0.438																																						ENST00000287908.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						c.(619-621)cGa>cTa		STEAP family member 2, metalloreductase							103	99	100					7																	89856412		2203	4300	6503	SO:0001583	missense	261729				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity	g.chr7:89856412G>T	AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"prostate cancer associated protein 1", "six transmembrane epithelial antigen of the prostate 2"	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.620G>T	7.37:g.89856412G>T	ENSP00000287908:p.Arg207Leu					STEAP2_ENST00000394621.2_Missense_Mutation_p.R207L|STEAP2_ENST00000394622.2_Missense_Mutation_p.R207L|STEAP2_ENST00000394629.2_Missense_Mutation_p.R207L|STEAP2_ENST00000394626.1_Missense_Mutation_p.R207L|STEAP2_ENST00000394632.1_Missense_Mutation_p.R207L|STEAP2_ENST00000402625.2_Missense_Mutation_p.R207L	p.R207L	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN			3	1013	+	all_hematologic(106;0.112)		207					A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Missense_Mutation	SNP	ENST00000287908.3	37	c.620G>T	CCDS5615.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.722966	0.48728	.	.	ENSG00000157214	ENST00000287908;ENST00000394626;ENST00000394622;ENST00000394632;ENST00000394624;ENST00000394621;ENST00000402625;ENST00000394629	T;T;T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45;2.45;2.45	6.08	4.3	0.51218	.	0.219115	0.42294	D	0.000737	T	0.12178	0.0296	L	0.33485	1.01	0.38776	D	0.954655	P;B;P;P	0.36733	0.567;0.431;0.552;0.552	B;B;B;B	0.31191	0.061;0.03;0.125;0.086	T	0.12319	-1.0552	9	.	.	.	-4.163	13.1287	0.59369	0.1293:0.0:0.8707:0.0	.	207;207;207;207	G5E9C6;Q6YPB2;Q8NFT2;B5MC02	.;.;STEA2_HUMAN;.	L	207	ENSP00000287908:R207L;ENSP00000378123:R207L;ENSP00000378120:R207L;ENSP00000378128:R207L;ENSP00000378119:R207L;ENSP00000384191:R207L;ENSP00000378125:R207L	.	R	+	2	0	STEAP2	89694348	1.000000	0.71417	0.996000	0.52242	0.895000	0.52256	2.680000	0.46918	0.915000	0.36847	-0.137000	0.14449	CGA		0.438	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	NM_152999		24	37	1	0	4.4004e-07	0.00047179	8.27276e-06	24	37					T	89856412	G	T	89856412	3	4	25	1	0	0	0	0	1	0	0	0	15277	1058	37	4	626	4	STEAP2	7	89856412	Missense_Mutation	SNP	G	TCGA-BJ-A290-01A-11D-A17V-08	74426091	89856412	69282251	16	690											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		23	34	0	0	0	0.000229342	0	23	34					T	140453136	A	T	140453136	3	4	25	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A290-01A-11D-A17V-08	50596724	140453136	18685527	17	691											
TG	7038	broad.mit.edu	37	chr8	133880376	133880376	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagagtaccaggtggatgcCcagccccttcgtccctgtga	11	14	0	2			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr8:133880376C>T	ENST00000220616.4	+	2	124	c.84C>T	c.(82-84)gcC>gcT	p.A28A	TG_ENST00000377869.1_Silent_p.A28A	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	28					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGGTGGATGCCCAGCCCCTTC	0.547																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(82-84)gcC>gcT		thyroglobulin							99	88	92					8																	133880376		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133880376C>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.84C>T	8.37:g.133880376C>T						TG_ENST00000377869.1_Silent_p.A28A	p.A28A	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	2	124	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	28					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.84C>T	CCDS34944.1																																																																																				0.547	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		13	37	0	0	0	0.000151284	0	13	37					T	133880376	C	T	133880376	2	4	25	1	0	0	0	0	0	0	0	1	15810	610	22	2		2	TG	8	133880376	Silent	SNP	C	TCGA-BJ-A290-01A-11D-A17V-08		133880376	12483646	18	692											
TEK	7010	broad.mit.edu	37	chr9	27157925	27157925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcattgcctctgggtggcGcccccatgagcccatcacca	10	17	2	1			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr9:27157925G>A	ENST00000380036.4	+	2	591	c.149G>A	c.(148-150)cGc>cAc	p.R50H	TEK_ENST00000519097.1_Intron|TEK_ENST00000406359.4_Missense_Mutation_p.R50H	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	50	Ig-like C2-type 1.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R50H(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TCTGGGTGGCGCCCCCATGAG	0.502																																						ENST00000380036.4																			1	Substitution - Missense(1)	p.R50H(1)	large_intestine(1)	breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(148-150)cGc>cAc		TEK tyrosine kinase, endothelial							145	129	134					9																	27157925		2203	4300	6503	SO:0001583	missense	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27157925G>A	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11724	protein-coding gene	gene with protein product		600221	"venous malformations, multiple cutaneous and mucosal"	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.149G>A	9.37:g.27157925G>A	ENSP00000369375:p.Arg50His					TEK_ENST00000519097.1_Intron|TEK_ENST00000406359.4_Missense_Mutation_p.R50H	p.R50H	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	2	591	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	50			Ig-like C2-type 1.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	c.149G>A	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	G	8.919	0.960706	0.18583	.	.	ENSG00000120156	ENST00000380036;ENST00000346448;ENST00000406359	T;T	0.73789	-0.75;-0.78	5.93	-2.2	0.06994	Tyrosine-protein kinase, receptor Tie-2, Ig-like domain 1, N-terminal (1);Immunoglobulin-like fold (1);	0.582526	0.15628	N	0.252547	T	0.50752	0.1634	N	0.08118	0	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.001	B;B;B;B	0.04013	0.001;0.0;0.001;0.0	T	0.31223	-0.9951	10	0.32370	T	0.25	.	12.5809	0.56390	0.5636:0.0:0.4364:0.0	.	83;50;50;50	Q59HG2;B5A953;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	H	50	ENSP00000369375:R50H;ENSP00000383977:R50H	ENSP00000343716:R50H	R	+	2	0	TEK	27147925	0.079000	0.21365	0.119000	0.21687	0.912000	0.54170	0.280000	0.18790	-0.463000	0.06973	-0.940000	0.02684	CGC		0.502	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			50	81	0	0	0	0.000147903	0	50	81					A	27157925	G	A	27157925	3	1	25	1	0	0	0	0	1	0	0	0	15748	1087	38	1	155	1	TEK	9	27157925	Missense_Mutation	SNP	G	TCGA-BJ-A290-01A-11D-A17V-08		27157925	114055506	19	693											
IL11RA	3590	broad.mit.edu	37	chr9	34659885	34659885	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagcccggaggcctggggaActccgagcactggtgagaga	18	10	0	2			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr9:34659885A>C	ENST00000555003.1	+	9	2296	c.940A>C	c.(940-942)Act>Cct	p.T314P	IL11RA_ENST00000318041.9_Missense_Mutation_p.T314P|CCL27_ENST00000557161.1_5'Flank|IL11RA_ENST00000378817.4_Missense_Mutation_p.T314P|IL11RA_ENST00000602473.1_Missense_Mutation_p.T314P|IL11RA_ENST00000441545.2_Missense_Mutation_p.T314P|RP11-195F19.30_ENST00000564224.1_RNA			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	314	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				developmental process (GO:0032502)|embryo implantation (GO:0007566)|head development (GO:0060322)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	GGCCTGGGGAACTCCGAGCAC	0.592																																						ENST00000555003.1																			0				breast(1)|large_intestine(1)|ovary(1)|skin(1)	4						c.(940-942)Act>Cct		interleukin 11 receptor, alpha	Oprelvekin(DB00038)						41	44	43					9																	34659885		2203	4300	6503	SO:0001583	missense	3590					integral to plasma membrane	cytokine receptor activity	g.chr9:34659885A>C	Z38102	CCDS6567.1	9p13	2014-05-22			ENSG00000137070	ENSG00000137070		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5967	protein-coding gene	gene with protein product		600939				7670098	Standard	NM_001142784		Approved		uc011loq.3	Q14626	OTTHUMG00000019837	ENST00000555003.1:c.940A>C	9.37:g.34659885A>C	ENSP00000450565:p.Thr314Pro					IL11RA_ENST00000318041.9_Missense_Mutation_p.T314P|IL11RA_ENST00000602473.1_Missense_Mutation_p.T314P|IL11RA_ENST00000441545.2_Missense_Mutation_p.T314P|IL11RA_ENST00000378817.4_Missense_Mutation_p.T314P	p.T314P			Q14626	I11RA_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	9	2296	+	all_epithelial(49;0.102)		314					Q16542|Q5VZ80|Q7KYJ7	Missense_Mutation	SNP	ENST00000555003.1	37	c.940A>C	CCDS6567.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.262533	0.80358	.	.	ENSG00000137070	ENST00000555003;ENST00000441545;ENST00000378817;ENST00000318041	T;T;T;T	0.43294	1.13;1.13;0.95;1.13	5.48	5.48	0.80851	.	0.264995	0.41823	D	0.000807	T	0.65595	0.2706	M	0.80183	2.485	0.42176	D	0.991662	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	T	0.70594	-0.4829	10	0.62326	D	0.03	-10.0789	13.5135	0.61526	1.0:0.0:0.0:0.0	.	314;314	Q5VZ79;Q14626	.;I11RA_HUMAN	P	314	ENSP00000450565:T314P;ENSP00000394391:T314P;ENSP00000368094:T314P;ENSP00000326500:T314P	ENSP00000326500:T314P	T	+	1	0	IL11RA	34649885	0.973000	0.33851	0.591000	0.28745	0.959000	0.62525	5.874000	0.69652	2.073000	0.62155	0.460000	0.39030	ACT		0.592	IL11RA-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410625.1	NM_001142784		16	29	0	0	0	0.000566183	0	16	29					C	34659885	A	C	34659885	3	2	25	1	0	0	0	0	1	0	0	0	7623	43	2	5	970	5	IL11RA	9	34659885	Missense_Mutation	SNP	A	TCGA-BJ-A290-01A-11D-A17V-08	7501960	34659885	106553546	20	694											
NAALADL1	10004	broad.mit.edu	37	chr11	64825888	64825888	+	Frame_Shift_Del	DEL	C	C	-													caggtccaggtcctggggggCcagtgagttggcttttttgg							TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr11:64825888delC	ENST00000358658.3	-	1	133	c.106delG	c.(106-108)gccfs	p.A36fs	NAALADL1_ENST00000340252.4_Frame_Shift_Del_p.A36fs|NAALADL1_ENST00000356632.3_Frame_Shift_Del_p.A36fs|NAALADL1_ENST00000339885.2_Frame_Shift_Del_p.A36fs|NAALADL1_ENST00000355721.3_Frame_Shift_Del_p.A36fs|NAALADL1_ENST00000355369.2_Frame_Shift_Del_p.A36fs	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						TCCTGGGGGGCCAGTGAGTTG	0.642																																						ENST00000358658.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						c.(106-108)ccfs		N-acetylated alpha-linked acidic dipeptidase-like 1							45	42	43					11																	64825888		2201	4297	6498	SO:0001589	frameshift_variant	10004				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:64825888delC	AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"ileal peptidase I100"	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.106delG	11.37:g.64825888delC	ENSP00000351484:p.Ala36fs					NAALADL1_ENST00000340252.4_Frame_Shift_Del_p.A36fs|NAALADL1_ENST00000355369.2_Frame_Shift_Del_p.A36fs|NAALADL1_ENST00000356632.3_Frame_Shift_Del_p.A36fs|NAALADL1_ENST00000339885.2_Frame_Shift_Del_p.A36fs|NAALADL1_ENST00000355721.3_Frame_Shift_Del_p.A36fs	p.A36fs	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN			1	133	-			36					C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Frame_Shift_Del	DEL	ENST00000358658.3	37	c.106delG	CCDS31604.1																																																																																				0.642	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	NM_005468		14	47						14	47	---	---	---	---	-	64825888	C	-	64825888	7	5	25	1	0	1	0	1	0	0	0	0	10129	739	26	0	2188	0	NAALADL1	11	64825888	Frame_Shift_Del	DEL	C	TCGA-BJ-A290-01A-11D-A17V-08		64825888	70180628	21	695											
KRTAP5-11	440051	broad.mit.edu	37	chr11	71293827	71293827	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccacagcccccactgccGgagccacagcccccacagcc	9	22	0	0	rs373629079		TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr11:71293827G>A	ENST00000398530.1	-	1	94	c.57C>T	c.(55-57)tcC>tcT	p.S19S	KRTAP5-11_ENST00000526239.1_Intron|AP000867.1_ENST00000343767.3_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	19						keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCCCACTGCCGGAGCCACAGC	0.632																																						ENST00000398530.1																			0				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(55-57)tcC>tcT		keratin associated protein 5-11		G		1,4377		0,1,2188	32	45	41		57	-0.1	0.9	11		41	1,8579		0,1,4289	no	coding-synonymous	KRTAP5-11	NM_001005405.2		0,2,6477	AA,AG,GG		0.0117,0.0228,0.0154		19/157	71293827	2,12956	2189	4290	6479	SO:0001819	synonymous_variant	440051					keratin filament		g.chr11:71293827G>A	AB126080	CCDS41685.1	11q13.4	2008-11-06			ENSG00000204571	ENSG00000204571		"Keratin associated proteins"	23606	protein-coding gene	gene with protein product						15144888	Standard	NM_001005405		Approved	KRTAP5.11, KRTAP5-6	uc001oqu.3	Q6L8G4	OTTHUMG00000057586	ENST00000398530.1:c.57C>T	11.37:g.71293827G>A						AP000867.1_ENST00000343767.3_Intron|KRTAP5-11_ENST00000526239.1_Intron	p.S19S	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN			1	94	-			19						Silent	SNP	ENST00000398530.1	37	c.57C>T	CCDS41685.1																																																																																				0.632	KRTAP5-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127969.1	NM_001005405		18	68	0	0	0	0.000132079	0	18	68					A	71293827	G	A	71293827	2	1	25	1	0	0	0	0	0	0	0	1	8560	1103	39	1		1	KRTAP5-11	11	71293827	Silent	SNP	G	TCGA-BJ-A290-01A-11D-A17V-08	6467939	71293827	63712689	22	696											
LRTM2	654429	broad.mit.edu	37	chr12	1943779	1943779	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcctatggctgcatctaCgcctccctcatggccaagta	9	15	2	0			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr12:1943779C>T	ENST00000543818.1	+	5	1847	c.1005C>T	c.(1003-1005)taC>taT	p.Y335Y	LRTM2_ENST00000535041.1_Silent_p.Y335Y|LRTM2_ENST00000543730.1_3'UTR|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000299194.1_Silent_p.Y335Y|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000587995.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	335						integral component of membrane (GO:0016021)		p.Y335Y(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GCTGCATCTACGCCTCCCTCA	0.637																																						ENST00000543818.1																			2	Substitution - coding silent(2)	p.Y335Y(2)	ovary(1)|lung(1)	NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(1003-1005)taC>taT		leucine-rich repeats and transmembrane domains 2							44	40	42					12																	1943779		2200	4284	6484	SO:0001819	synonymous_variant	0					integral to membrane		g.chr12:1943779C>T	AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.1005C>T	12.37:g.1943779C>T						LRTM2_ENST00000543730.1_3'UTR|LRTM2_ENST00000299194.1_Silent_p.Y335Y|LRTM2_ENST00000535041.1_Silent_p.Y335Y|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000586184.1_Intron	p.Y335Y	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000834)		5	1847	+	Ovarian(42;0.107)		335					A7E2U6	Silent	SNP	ENST00000543818.1	37	c.1005C>T	CCDS31726.1	.	.	.	.	.	.	.	.	.	.	C	4.723	0.134459	0.09032	.	.	ENSG00000166159	ENST00000424079	.	.	.	5.3	-5.34	0.02705	.	.	.	.	.	T	0.70430	0.3223	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.76233	-0.3034	5	0.87932	D	0	.	15.8497	0.78921	0.0:0.2259:0.0:0.7741	.	.	.	.	C	92	.	ENSP00000394967:R92C	R	+	1	0	LRTM2	1814040	0.021000	0.18746	0.908000	0.35775	0.520000	0.34377	-0.805000	0.04530	-1.063000	0.03177	-1.036000	0.02392	CGC		0.637	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398055.1			40	40	0	0	0	0.000191422	0	40	40					T	1943779	C	T	1943779	2	4	25	1	0	0	0	0	0	0	0	1	9045	547	19	1		1	LRTM2	12	1943779	Silent	SNP	C	TCGA-BJ-A290-01A-11D-A17V-08		1943779	131908116	23	697											
KRT5	3852	broad.mit.edu	37	chr12	52913586	52913586	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atctgctcgcgctcctcggtCctcaccctctggatgctggg	11	16	3	0	rs267607456		TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr12:52913586C>T	ENST00000252242.4	-	1	885	c.495G>A	c.(493-495)agG>agA	p.R165R		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	165	Head.		R -> S (in DM-EBS). {ECO:0000269|PubMed:21623745}.		cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCTCCTCGGTCCTCACCCTCT	0.522																																						ENST00000252242.4																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35						c.(493-495)agG>agA		keratin 5							179	171	174					12																	52913586		2203	4300	6503	SO:0001819	synonymous_variant	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52913586C>T		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"-", "Intermediate filaments type II, keratins (basic)"	6442	protein-coding gene	gene with protein product		148040	"epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types", "keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.495G>A	12.37:g.52913586C>T							p.R165R	NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	885	-			165			Head.		Q6PI71|Q6UBJ0|Q8TA91	Silent	SNP	ENST00000252242.4	37	c.495G>A	CCDS8830.1																																																																																				0.522	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			7	148	0	0	0	0.000274275	0	7	148					T	52913586	C	T	52913586	2	4	25	1	0	0	0	0	0	0	0	1	8479	854	30	2		2	KRT5	12	52913586	Silent	SNP	C	TCGA-BJ-A290-01A-11D-A17V-08	50969807	52913586	80938309	24	698											
STAB2	55576	broad.mit.edu	37	chr12	104100607	104100607	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggcttctttggcccccaatGccagccctgcccagggaatg	11	16	1	0			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr12:104100607G>T	ENST00000388887.2	+	38	4238	c.4034G>T	c.(4033-4035)tGc>tTc	p.C1345F		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GGCCCCCAATGCCAGCCCTGC	0.547																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(4033-4035)tGc>tTc		stabilin 2							123	117	119					12																	104100607		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104100607G>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.4034G>T	12.37:g.104100607G>T	ENSP00000373539:p.Cys1345Phe						p.C1345F	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			38	4238	+			1345			Laminin EGF-like 1.			Missense_Mutation	SNP	ENST00000388887.2	37	c.4034G>T	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174352	0.57692	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.85258	-1.96	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.95162	0.8432	H	0.95294	3.65	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.96017	0.9006	10	0.87932	D	0	.	19.8101	0.96543	0.0:0.0:1.0:0.0	.	1345	Q8WWQ8	STAB2_HUMAN	F	1345;32	ENSP00000373539:C1345F	ENSP00000258495:C32F	C	+	2	0	STAB2	102624737	1.000000	0.71417	1.000000	0.80357	0.044000	0.14063	9.151000	0.94674	2.696000	0.92011	0.655000	0.94253	TGC		0.547	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			21	45	1	0	5.26018e-13	0.000229342	1.00723e-11	21	45					T	104100607	G	T	104100607	3	4	25	1	0	0	0	0	1	0	0	0	15237	1319	46	4	4184	4	STAB2	12	104100607	Missense_Mutation	SNP	G	TCGA-BJ-A290-01A-11D-A17V-08	51187021	104100607	29751288	25	699											
AGBL1	123624	broad.mit.edu	37	chr15	86838596	86838596	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgtcccttggtgaccatcacGgccatgcctgagtccaacag	10	14	1	2			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr15:86838596G>C	ENST00000441037.2	+	16	2288	c.2193G>C	c.(2191-2193)acG>acC	p.T731T	AGBL1-AS1_ENST00000564487.1_RNA|AGBL1_ENST00000389298.3_Silent_p.T462T|AGBL1-AS1_ENST00000566878.1_RNA|AGBL1_ENST00000421325.2_Silent_p.T731T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	731					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)	p.T731T(1)		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						TGACCATCACGGCCATGCCTG	0.498																																						ENST00000441037.2																			1	Substitution - coding silent(1)	p.T731T(1)	prostate(1)	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.(2191-2193)acG>acC		ATP/GTP binding protein-like 1							110	110	110					15																	86838596		1998	4176	6174	SO:0001819	synonymous_variant	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86838596G>C	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.2193G>C	15.37:g.86838596G>C						AGBL1_ENST00000421325.2_Silent_p.T731T|AGBL1_ENST00000389298.3_Silent_p.T462T	p.T731T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN			16	2288	+			731					A1A4X5|A6NJH6|C9JHL5	Silent	SNP	ENST00000441037.2	37	c.2193G>C	CCDS58398.1																																																																																				0.498	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		3	69	0	0	0	6.4e-05	0	3	69					C	86838596	G	C	86838596	2	2	25	1	0	0	0	0	0	0	0	1	375	1103	39	4		4	AGBL1	15	86838596	Silent	SNP	G	TCGA-BJ-A290-01A-11D-A17V-08		86838596	15692796	26	700											
UMOD	7369	broad.mit.edu	37	chr16	20355366	20355366	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaccattggctgtagggcGgtcttcaggctgactttcat	12	10	3	2			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr16:20355366G>A	ENST00000570689.1	-	6	1457	c.1311C>T	c.(1309-1311)acC>acT	p.T437T	UMOD_ENST00000424589.1_Silent_p.T470T|UMOD_ENST00000396134.2_Silent_p.T470T|UMOD_ENST00000570331.1_5'Flank|UMOD_ENST00000302509.4_Silent_p.T437T|UMOD_ENST00000396142.2_Silent_p.T437T|UMOD_ENST00000396138.4_Silent_p.T486T			P07911	UROM_HUMAN	uromodulin	437	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GCTGTAGGGCGGTCTTCAGGC	0.537																																						ENST00000396134.2																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1408-1410)acC>acT		uromodulin							120	102	108					16																	20355366		2203	4300	6503	SO:0001819	synonymous_variant	7369				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20355366G>A	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"Tamm-Horsfall glycoprotein", "uromucoid"	191845	"uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1311C>T	16.37:g.20355366G>A						UMOD_ENST00000302509.4_Silent_p.T437T|UMOD_ENST00000424589.1_Silent_p.T470T|UMOD_ENST00000396138.4_Silent_p.T486T|UMOD_ENST00000570689.1_Silent_p.T437T|UMOD_ENST00000396142.2_Silent_p.T437T	p.T470T	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN			7	1533	-			437			ZP.		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Silent	SNP	ENST00000570689.1	37	c.1410C>T	CCDS10583.1																																																																																				0.537	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1			22	43	0	0	0	0.000229342	0	22	43					A	20355366	G	A	20355366	2	1	25	1	0	0	0	0	0	0	0	1	16976	1103	39	1		1	UMOD	16	20355366	Silent	SNP	G	TCGA-BJ-A290-01A-11D-A17V-08		20355366	69999387	27	701											
MAP3K3	4215	broad.mit.edu	37	chr17	61759152	61759152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaccctggccgaagctcaCctccccctggctatgttcct	8	17	1	1			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr17:61759152C>T	ENST00000361733.3	+	7	849	c.529C>T	c.(529-531)Cct>Tct	p.P177S	MAP3K3_ENST00000579585.1_Missense_Mutation_p.P208S|MAP3K3_ENST00000361357.3_Missense_Mutation_p.P208S|MAP3K3_ENST00000584573.1_Missense_Mutation_p.P208S|MAP3K3_ENST00000577395.1_Missense_Mutation_p.P177S	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	177					activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CCGAAGCTCACCTCCCCCTGG	0.607																																						ENST00000361357.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(622-624)Cct>Tct		mitogen-activated protein kinase kinase kinase 3							99	91	94					17																	61759152		2203	4300	6503	SO:0001583	missense	4215				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr17:61759152C>T	U78876	CCDS32701.1, CCDS32702.1	17q	2011-06-09				ENSG00000198909		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6855	protein-coding gene	gene with protein product	"MAP/ERK kinase kinase 3", "MAPK/ERK kinase kinase 3"	602539		MEKK3		9006902	Standard	NM_002401		Approved	MAPKKK3	uc002jbf.3	Q99759		ENST00000361733.3:c.529C>T	17.37:g.61759152C>T	ENSP00000354485:p.Pro177Ser					MAP3K3_ENST00000579585.1_Missense_Mutation_p.P208S|MAP3K3_ENST00000361733.3_Missense_Mutation_p.P177S|MAP3K3_ENST00000577395.1_Missense_Mutation_p.P177S|MAP3K3_ENST00000584573.1_Missense_Mutation_p.P208S	p.P208S	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN			8	940	+			177					B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Missense_Mutation	SNP	ENST00000361733.3	37	c.622C>T	CCDS32702.1	.	.	.	.	.	.	.	.	.	.	C	32	5.158497	0.94686	.	.	ENSG00000198909	ENST00000361357;ENST00000361733	T;T	0.75938	-0.98;-0.93	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.87601	0.6218	M	0.79926	2.475	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	0.88505	0.3085	10	0.87932	D	0	.	19.6853	0.95977	0.0:1.0:0.0:0.0	.	177;145;177;208	Q1PBM3;Q96HN9;Q99759;Q99759-2	.;.;M3K3_HUMAN;.	S	208;177	ENSP00000354927:P208S;ENSP00000354485:P177S	ENSP00000354927:P208S	P	+	1	0	MAP3K3	59112884	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.744000	0.85034	2.737000	0.93849	0.561000	0.74099	CCT		0.607	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443867.1	NM_002401		43	62	0	0	0	0.000374591	0	43	62					T	61759152	C	T	61759152	3	4	25	1	0	0	0	0	1	0	0	0	9251	507	18	2	652	2	MAP3K3	17	61759152	Missense_Mutation	SNP	C	TCGA-BJ-A290-01A-11D-A17V-08		61759152	19436058	28	702											
RIT2	6014	broad.mit.edu	37	chr18	40503596	40503596	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caccaggggaatttcataggTgtggcggacctgaaaaatga	13	7	1	2			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr18:40503596T>A	ENST00000326695.5	-	4	538	c.367A>T	c.(367-369)Acc>Tcc	p.T123S	RIT2_ENST00000282028.4_Missense_Mutation_p.T123S|RIT2_ENST00000590910.1_Silent_p.T143T|RIT2_ENST00000589109.1_Missense_Mutation_p.T123S	NM_002930.2	NP_002921.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	123					neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATTTCATAGGTGTGGCGGACC	0.493																																						ENST00000589109.1																			0				endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(367-369)Acc>Tcc		Ras-like without CAAX 2							205	206	206					18																	40503596		2203	4300	6503	SO:0001583	missense	6014				nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr18:40503596T>A	BC018060	CCDS11921.1, CCDS62431.1	18q12.3	2014-05-09	2002-09-11	2002-09-13	ENSG00000152214	ENSG00000152214			10017	protein-coding gene	gene with protein product		609592	"Ric (Drosophila)-like, expressed in neurons"	RIN		8824319, 8918462	Standard	NM_002930		Approved	RIBA	uc002lav.4	Q99578	OTTHUMG00000132611	ENST00000326695.5:c.367A>T	18.37:g.40503596T>A	ENSP00000321805:p.Thr123Ser					RIT2_ENST00000326695.5_Missense_Mutation_p.T123S|RIT2_ENST00000590910.1_Silent_p.T143T|RIT2_ENST00000282028.4_Missense_Mutation_p.T123S	p.T123S	NM_001272077.1	NP_001259006.1	Q99578	RIT2_HUMAN			4	538	-			123					B2R9L1|O15295|Q8TD69|Q8WVF6|Q92964	Missense_Mutation	SNP	ENST00000326695.5	37	c.367A>T	CCDS11921.1	.	.	.	.	.	.	.	.	.	.	T	15.11	2.735808	0.49045	.	.	ENSG00000152214	ENST00000326695;ENST00000282028	T;T	0.70045	-0.37;-0.45	5.45	4.25	0.50352	Small GTP-binding protein domain (1);	0.083798	0.51477	N	0.000086	T	0.60379	0.2264	N	0.05177	-0.1	0.33303	D	0.565091	B;D	0.76494	0.004;0.999	B;D	0.81914	0.009;0.995	T	0.63157	-0.6700	10	0.13470	T	0.59	.	11.8882	0.52615	0.1309:0.0:0.0:0.8691	.	123;123	Q99578-2;Q99578	.;RIT2_HUMAN	S	123	ENSP00000321805:T123S;ENSP00000282028:T123S	ENSP00000282028:T123S	T	-	1	0	RIT2	38757594	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.613000	0.61176	0.958000	0.37956	0.533000	0.62120	ACC		0.493	RIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255852.1	NM_002930		64	111	0	0	0	0.000147903	0	64	111					A	40503596	T	A	40503596	3	1	25	1	0	0	0	0	1	0	0	0	13387	1696	59	5	294	5	RIT2	18	40503596	Missense_Mutation	SNP	T	TCGA-BJ-A290-01A-11D-A17V-08		40503596	37573652	29	703											
CEACAM8	1088	broad.mit.edu	37	chr19	43093666	43093666	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	actcgctgggttctgtatttCacattcatagggtcctacgt	9	10	3	0			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr19:43093666C>G	ENST00000244336.5	-	3	747	c.646G>C	c.(646-648)Gaa>Caa	p.E216Q	LIPE-AS1_ENST00000594624.2_RNA|CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594688.1_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	216	Ig-like C2-type 1.				immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				TTCTGTATTTCACATTCATAG	0.537																																						ENST00000244336.5																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16						c.(646-648)Gaa>Caa		carcinoembryonic antigen-related cell adhesion molecule 8							252	229	237					19																	43093666		2203	4300	6503	SO:0001583	missense	1088				immune response	anchored to membrane|extracellular space|integral to plasma membrane		g.chr19:43093666C>G	D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.646G>C	19.37:g.43093666C>G	ENSP00000244336:p.Glu216Gln					LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM8_ENST00000599005.1_Intron	p.E216Q	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN			3	747	-		Prostate(69;0.00899)	216			Ig-like C2-type 1.		O60399|Q16574	Missense_Mutation	SNP	ENST00000244336.5	37	c.646G>C	CCDS12610.1	.	.	.	.	.	.	.	.	.	.	c	13.71	2.318451	0.40996	.	.	ENSG00000124469	ENST00000244336	T	0.03035	4.07	2.7	0.176	0.15049	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.13200	0.0320	M	0.78637	2.42	0.09310	N	0.999997	D	0.71674	0.998	D	0.75020	0.985	T	0.10109	-1.0644	9	0.87932	D	0	.	4.5754	0.12230	0.0:0.5785:0.0:0.4215	.	216	P31997	CEAM8_HUMAN	Q	216	ENSP00000244336:E216Q	ENSP00000244336:E216Q	E	-	1	0	CEACAM8	47785506	0.002000	0.14202	0.093000	0.20910	0.178000	0.23041	-0.339000	0.07832	-0.004000	0.14419	0.313000	0.20887	GAA		0.537	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321430.1			4	235	0	0	0	0.00024832	0	4	235					G	43093666	C	G	43093666	3	3	25	1	0	0	0	0	1	0	0	0	3198	835	29	4	415	4	CEACAM8	19	43093666	Missense_Mutation	SNP	C	TCGA-BJ-A290-01A-11D-A17V-08		43093666	16035317	30	704											
GRIN2D	2906	broad.mit.edu	37	chr19	48908178	48908178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggtgggctgggagcaccGcggagcgctgacgctggacc	18	12	1	1			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr19:48908178G>A	ENST00000263269.3	+	3	741	c.653G>A	c.(652-654)cGc>cAc	p.R218H		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	218					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGGGAGCACCGCGGAGCGCTG	0.682																																						ENST00000263269.3																			0				autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37						c.(652-654)cGc>cAc		glutamate receptor, ionotropic, N-methyl D-aspartate 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						79	78	79					19																	48908178		2203	4300	6503	SO:0001583	missense	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48908178G>A	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4588	protein-coding gene	gene with protein product	"N-methyl-d-aspartate receptor subunit 2D"	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.653G>A	19.37:g.48908178G>A	ENSP00000263269:p.Arg218His						p.R218H	NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	3	741	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	218						Missense_Mutation	SNP	ENST00000263269.3	37	c.653G>A	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113261	0.77210	.	.	ENSG00000105464	ENST00000263269	D	0.93859	-3.3	4.94	4.94	0.65067	Extracellular ligand-binding receptor (1);	0.141001	0.45606	D	0.000348	D	0.93897	0.8047	L	0.29908	0.895	0.40641	D	0.981945	D	0.76494	0.999	D	0.66602	0.945	D	0.94139	0.7395	10	0.44086	T	0.13	.	17.3107	0.87208	0.0:0.0:1.0:0.0	.	218	O15399	NMDE4_HUMAN	H	218	ENSP00000263269:R218H	ENSP00000263269:R218H	R	+	2	0	GRIN2D	53599990	0.996000	0.38824	0.999000	0.59377	0.867000	0.49689	3.348000	0.52209	2.457000	0.83068	0.561000	0.74099	CGC		0.682	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			10	131	0	0	0	3.86212e-05	0	10	131					A	48908178	G	A	48908178	3	1	25	1	0	0	0	0	1	0	0	0	6782	1087	38	1	659	1	GRIN2D	19	48908178	Missense_Mutation	SNP	G	TCGA-BJ-A290-01A-11D-A17V-08	5814512	48908178	10220805	31	705											
SIGLEC6	946	broad.mit.edu	37	chr19	52033047	52033049	+	In_Frame_Del	DEL	CTT	CTT	-													agcacggcaggtgaaatctcCttcttctgcagaccctactt							TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr19:52033047_52033049delCTT	ENST00000425629.3	-	5	1095_1097	c.941_943delAAG	c.(940-945)gaagga>gga	p.E314del	SIGLEC6_ENST00000359982.4_In_Frame_Del_p.E325del|SIGLEC6_ENST00000436458.1_In_Frame_Del_p.E262del|SIGLEC6_ENST00000343300.4_In_Frame_Del_p.E314del|SIGLEC6_ENST00000391797.3_In_Frame_Del_p.E303del|SIGLEC6_ENST00000346477.3_In_Frame_Del_p.E298del|SIGLEC6_ENST00000474054.1_5'Flank	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	314	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GTGAAATCTCCTTCTTCTGCAGA	0.601																																						ENST00000346477.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28						c.(892-897)gga>g		sialic acid binding Ig-like lectin 6																																				SO:0001651	inframe_deletion	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52033047_52033049delCTT	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.941_943delAAG	19.37:g.52033050_52033052delCTT	ENSP00000401502:p.Glu314del					SIGLEC6_ENST00000425629.3_In_Frame_Del_p.EG314del|SIGLEC6_ENST00000343300.4_In_Frame_Del_p.EG314del|SIGLEC6_ENST00000359982.4_In_Frame_Del_p.EG325del|SIGLEC6_ENST00000391797.3_In_Frame_Del_p.EG303del|SIGLEC6_ENST00000436458.1_In_Frame_Del_p.EG262del	p.EG298del	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	4	961_963	-		all_neural(266;0.0199)	314			Ig-like C2-type 2.		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	In_Frame_Del	DEL	ENST00000425629.3	37	c.893_895delAAG	CCDS12834.3																																																																																				0.601	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		32	56						32	56	---	---	---	---	-	52033049	CTT	-	52033047	7	5	25	1	0	1	0	1	0	0	0	0	14312	690	24	0	434	0	SIGLEC6	19	52033047	In_Frame_Del	DEL	CTT	TCGA-BJ-A290-01A-11D-A17V-08	3124869	52033047	7095936	32	706											
PRIC285	85441	broad.mit.edu	37	chr20	62198473	62198473	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaagctgacaatggcgtcCgtgcagcggtagttctcgtg	14	9	1	2			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr20:62198473C>T	ENST00000467148.1	-	6	2307	c.2238G>A	c.(2236-2238)acG>acA	p.T746T	HELZ2_ENST00000427522.2_Silent_p.T177T	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	746	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CAATGGCGTCCGTGCAGCGGT	0.662																																						ENST00000467148.1																			0											c.(2236-2238)acG>acA		helicase with zinc finger 2, transcriptional coactivator							63	61	62					20																	62198473		2202	4299	6501	SO:0001819	synonymous_variant	85441							g.chr20:62198473C>T	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.2238G>A	20.37:g.62198473C>T						HELZ2_ENST00000427522.2_Silent_p.T177T	p.T746T	NM_001037335.2	NP_001032412.2					6	2307	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	c.2238G>A	CCDS33508.1																																																																																				0.662	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		39	72	0	0	0	0.000374591	0	39	72					T	62198473	C	T	62198473	2	4	25	1	0	0	0	0	0	0	0	1	12485	639	23	1		1	PRIC285	20	62198473	Silent	SNP	C	TCGA-BJ-A290-01A-11D-A17V-08		62198473	827047	33	707											
KRTAP10-3	386682	broad.mit.edu	37	chr21	45978232	45978232	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagacgggcacacagcagaTgggcttgcagcagacaggct	15	11	0	3	rs587619630	byFrequency	TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr21:45978232T>C	ENST00000391620.1	-	1	411	c.367A>G	c.(367-369)Atc>Gtc	p.I123V	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	123	18 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				kidney(1)|lung(4)|prostate(1)|skin(1)	7						acacagcagatgggcttgcag	0.652													T|||	3	0.000599042	0.0015	0.0014	5008	,	,		17583	0		0	False		,,,				2504	0					ENST00000391620.1																			0				kidney(1)|lung(4)|prostate(1)|skin(1)	7						c.(367-369)Atc>Gtc		keratin associated protein 10-3							164	164	164					21																	45978232		2203	4300	6503	SO:0001583	missense	386682					keratin filament		g.chr21:45978232T>C	AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"Keratin associated proteins"	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.367A>G	21.37:g.45978232T>C	ENSP00000375478:p.Ile123Val					TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	p.I123V	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN			1	411	-			123			18 X 5 AA repeats of C-C-X(3).		A3KN67|Q70LJ4	Missense_Mutation	SNP	ENST00000391620.1	37	c.367A>G	CCDS42956.1	.	.	.	.	.	.	.	.	.	.	t	0	-2.850393	0.00066	.	.	ENSG00000212935	ENST00000391620	T	0.01209	5.17	3.53	1.68	0.24146	.	.	.	.	.	T	0.00440	0.0014	N	0.00765	-1.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43491	-0.9388	9	0.02654	T	1	.	7.2709	0.26256	0.0:0.7638:0.0:0.2362	.	123	P60369	KR103_HUMAN	V	123	ENSP00000375478:I123V	ENSP00000375478:I123V	I	-	1	0	KRTAP10-3	44802660	0.000000	0.05858	0.008000	0.14137	0.003000	0.03518	-1.913000	0.01580	0.822000	0.34565	-0.232000	0.12228	ATC		0.652	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128031.1			5	306	0	0	0	0.000274275	0	5	306					C	45978232	T	C	45978232	3	2	25	1	0	0	0	0	1	0	0	0	8510	1464	51	3	302	3	KRTAP10-3	21	45978232	Missense_Mutation	SNP	T	TCGA-BJ-A290-01A-11D-A17V-08		45978232	2151663	34	708											
COL6A2	1292	broad.mit.edu	37	chr21	47552224	47552224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcggggcccggaggcacGcagagctgtccttcgtgttc	17	12	0	1			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr21:47552224G>A	ENST00000300527.4	+	28	2922	c.2818G>A	c.(2818-2820)Gca>Aca	p.A940T		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	940	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCGGAGGCACGCAGAGCTGTC	0.657																																						ENST00000300527.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2818-2820)Gca>Aca		collagen, type VI, alpha 2							34	36	35					21																	47552224		2201	4299	6500	SO:0001583	missense	0				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47552224G>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2818G>A	21.37:g.47552224G>A	ENSP00000300527:p.Ala940Thr						p.A940T	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	28	2922	+	Breast(49;0.245)		940			Nonhelical region.|VWFA 3.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.2818G>A	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.760209	0.49468	.	.	ENSG00000142173	ENST00000300527	T	0.79454	-1.27	4.16	4.16	0.48862	von Willebrand factor, type A (3);	0.000000	0.85682	U	0.000000	D	0.86719	0.6000	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	D	0.85291	0.1067	10	0.22706	T	0.39	-21.4829	16.468	0.84090	0.0:0.0:1.0:0.0	.	940	P12110	CO6A2_HUMAN	T	940	ENSP00000300527:A940T	ENSP00000300527:A940T	A	+	1	0	COL6A2	46376652	1.000000	0.71417	0.935000	0.37517	0.035000	0.12851	9.525000	0.98039	1.881000	0.54492	0.297000	0.19635	GCA		0.657	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			9	19	0	0	0	0.00010058	0	9	19					A	47552224	G	A	47552224	3	1	25	1	0	0	0	0	1	0	0	0	3700	1087	38	1	3254	1	COL6A2	21	47552224	Missense_Mutation	SNP	G	TCGA-BJ-A290-01A-11D-A17V-08	1573992	47552224	577671	35	709											
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-													ctggttgggtttgcacttcaTcctcgaggcagcctcctcga					rs78182391		TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			4	4						4	4	---	---	---	---	-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	25	1	0	1	0	1	0	0	0	0	10727	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-BJ-A290-01A-11D-A17V-08		51239296	104031264	36	710											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290	byFrequency	TCGA-BJ-A2N7-01A-11D-A18F-08	TCGA-BJ-A2N7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de442e29-fc8d-43ac-ab0f-2998b2ca7df2	f019b164-6be7-43df-b9db-6191e32ff67f	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		neuroblastoma RAS viral (v-ras) oncogene homolog							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		56	87	0	0	0	0.00361	0	56	87					C	115256529	T	C	115256529	3	2	26	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-BJ-A2N7-01A-11D-A18F-08		115256529	133994092	1	711											
UNC50	25972	broad.mit.edu	37	chr2	99226304	99226304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcggcaagacacacagccGgagcgaaacgctacaaatat	10	11	0	1			TCGA-BJ-A2N7-01A-11D-A18F-08	TCGA-BJ-A2N7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de442e29-fc8d-43ac-ab0f-2998b2ca7df2	f019b164-6be7-43df-b9db-6191e32ff67f	g.chr2:99226304G>A	ENST00000357765.2	+	2	234	c.82G>A	c.(82-84)Gga>Aga	p.G28R	UNC50_ENST00000409347.1_Missense_Mutation_p.G45R|COA5_ENST00000483527.1_5'Flank|COA5_ENST00000409997.1_5'Flank|UNC50_ENST00000409975.1_Missense_Mutation_p.G45R|COA5_ENST00000328709.3_5'Flank	NM_014044.5	NP_054763.2	Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	28					cell surface receptor signaling pathway (GO:0007166)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)	RNA binding (GO:0003723)			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						ACACACAGCCGGAGCGAAACG	0.483																																						ENST00000409975.1																			0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						c.(133-135)Gga>Aga		unc-50 homolog (C. elegans)							168	168	168					2																	99226304		2203	4300	6503	SO:0001583	missense	25972				protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding	g.chr2:99226304G>A		CCDS2035.1	2q12.2	2008-02-05			ENSG00000115446	ENSG00000115446			16046	protein-coding gene	gene with protein product						10980252	Standard	NM_014044		Approved	URP, UNCL, GMH1	uc002szc.4	Q53HI1	OTTHUMG00000130562	ENST00000357765.2:c.82G>A	2.37:g.99226304G>A	ENSP00000350409:p.Gly28Arg					UNC50_ENST00000357765.2_Missense_Mutation_p.G28R|UNC50_ENST00000409347.1_Missense_Mutation_p.G45R	p.G45R			Q53HI1	UNC50_HUMAN			1	1263	+			28					D3DVH4|Q53S98|Q53TD6|Q5U5U2|Q6X7B9|Q9UQF4|Q9Y4S6	Missense_Mutation	SNP	ENST00000357765.2	37	c.133G>A	CCDS2035.1	.	.	.	.	.	.	.	.	.	.	G	32	5.111883	0.94339	.	.	ENSG00000115446	ENST00000357765;ENST00000409975;ENST00000409347	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.62684	0.2448	L	0.40543	1.245	0.80722	D	1	D	0.71674	0.998	P	0.58077	0.832	T	0.55309	-0.8161	9	0.13853	T	0.58	-9.4319	18.0646	0.89387	0.0:0.0:1.0:0.0	.	28	Q53HI1	UNC50_HUMAN	R	28;45;45	.	ENSP00000350409:G28R	G	+	1	0	UNC50	98592736	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.343000	0.79319	2.505000	0.84491	0.591000	0.81541	GGA		0.483	UNC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252987.1	NM_014044		4	191	0	0	0	0.000248	0	4	191					A	99226304	G	A	99226304	3	1	26	1	0	0	0	0	1	0	0	0	16987	1117	39	1	84	1	UNC50	2	99226304	Missense_Mutation	SNP	G	TCGA-BJ-A2N7-01A-11D-A18F-08		99226304	143973069	2	712											
KIF9	64147	broad.mit.edu	37	chr3	47308733	47308733	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgttcatagtgtgggaggcTataatcctgttggtctcacc	11	8	2	0			TCGA-BJ-A2N7-01A-11D-A18F-08	TCGA-BJ-A2N7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de442e29-fc8d-43ac-ab0f-2998b2ca7df2	f019b164-6be7-43df-b9db-6191e32ff67f	g.chr3:47308733T>C	ENST00000265529.3	-	7	1292	c.612A>G	c.(610-612)atA>atG	p.I204M	KIF9_ENST00000452770.2_Missense_Mutation_p.I204M|KIF9_ENST00000444589.2_Missense_Mutation_p.I204M|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000352910.4_Missense_Mutation_p.I111M|KIF9_ENST00000335044.2_Missense_Mutation_p.I204M			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	204	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGTGGGAGGCTATAATCCTGT	0.443																																					Colon(44;962 1147 15977 24541)	ENST00000335044.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34						c.(610-612)atA>atG		kinesin family member 9							261	261	261					3																	47308733		2203	4300	6503	SO:0001583	missense	64147				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr3:47308733T>C	AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"Kinesins"	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.612A>G	3.37:g.47308733T>C	ENSP00000265529:p.Ile204Met					KIF9_ENST00000265529.3_Missense_Mutation_p.I204M|KIF9_ENST00000444589.2_Missense_Mutation_p.I204M|KIF9_ENST00000452770.2_Missense_Mutation_p.I204M|KIF9_ENST00000352910.4_Missense_Mutation_p.I111M|KIF9_ENST00000487440.1_5'UTR	p.I204M	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	6	969	-		Acute lymphoblastic leukemia(5;0.164)	204			Kinesin-motor.		Q86Z28|Q9H8A4	Missense_Mutation	SNP	ENST00000265529.3	37	c.612A>G	CCDS2752.1	.	.	.	.	.	.	.	.	.	.	T	16.04	3.010781	0.54361	.	.	ENSG00000088727	ENST00000335044;ENST00000265529;ENST00000444589;ENST00000452770;ENST00000352910;ENST00000456548	T;T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93;2.26	5.93	-1.34	0.09143	Kinesin, motor domain (4);	0.048294	0.85682	D	0.000000	T	0.65302	0.2678	L	0.45228	1.405	0.38290	D	0.942679	B;P	0.35401	0.141;0.499	B;B	0.41917	0.272;0.37	T	0.61671	-0.7015	10	0.87932	D	0	.	6.6382	0.22895	0.473:0.0:0.2315:0.2955	.	204;204	Q9HAQ2-2;Q9HAQ2	.;KIF9_HUMAN	M	204;204;204;204;111;129	ENSP00000333942:I204M;ENSP00000265529:I204M;ENSP00000414987:I204M;ENSP00000391100:I204M;ENSP00000292334:I111M;ENSP00000387959:I129M	ENSP00000265529:I204M	I	-	3	3	KIF9	47283737	0.965000	0.33210	0.996000	0.52242	0.986000	0.74619	-0.069000	0.11542	-0.123000	0.11745	-0.333000	0.08304	ATA		0.443	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257475.2			3	236	0	0	0	0.004672	0	3	236					C	47308733	T	C	47308733	3	2	26	1	0	0	0	0	1	0	0	0	8310	1512	53	3	1824	3	KIF9	3	47308733	Missense_Mutation	SNP	T	TCGA-BJ-A2N7-01A-11D-A18F-08		47308733	150713697	3	713											
PDHA2	5161	broad.mit.edu	37	chr4	96761513	96761513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgatgctgactgttcgccGcatggaattgaaggcagatc	13	8	0	4			TCGA-BJ-A2N7-01A-11D-A18F-08	TCGA-BJ-A2N7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de442e29-fc8d-43ac-ab0f-2998b2ca7df2	f019b164-6be7-43df-b9db-6191e32ff67f	g.chr4:96761513G>A	ENST00000295266.4	+	1	275	c.212G>A	c.(211-213)cGc>cAc	p.R71H		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	71					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)	p.R71H(2)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		ACTGTTCGCCGCATGGAATTG	0.507																																						ENST00000295266.4																			2	Substitution - Missense(2)	p.R71H(2)	lung(1)|prostate(1)	NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46						c.(211-213)cGc>cAc		pyruvate dehydrogenase (lipoamide) alpha 2	NADH(DB00157)						98	85	89					4																	96761513		2203	4300	6503	SO:0001583	missense	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761513G>A		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.212G>A	4.37:g.96761513G>A	ENSP00000295266:p.Arg71His						p.R71H	NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	275	+		Hepatocellular(203;0.114)	71					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	c.212G>A	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049563	0.55218	.	.	ENSG00000163114	ENST00000295266	D	0.97041	-4.22	4.8	3.96	0.45880	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.96580	0.8884	M	0.87456	2.885	0.58432	D	0.999999	B	0.33379	0.41	B	0.34991	0.193	D	0.96396	0.9293	10	0.87932	D	0	-17.6409	11.3432	0.49546	0.0892:0.0:0.9108:0.0	.	71	P29803	ODPAT_HUMAN	H	71	ENSP00000295266:R71H	ENSP00000295266:R71H	R	+	2	0	PDHA2	96980536	1.000000	0.71417	0.911000	0.35937	0.781000	0.44180	3.431000	0.52814	1.402000	0.46780	-0.459000	0.05422	CGC		0.507	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			4	76	0	0	0	0.000248	0	4	76					A	96761513	G	A	96761513	3	1	26	1	0	0	0	0	1	0	0	0	11665	1087	38	1	214	1	PDHA2	4	96761513	Missense_Mutation	SNP	G	TCGA-BJ-A2N7-01A-11D-A18F-08		96761513	94392763	4	714											
ABL1	25	broad.mit.edu	37	chr9	133759490	133759492	+	In_Frame_Del	DEL	AAG	AAG	-													acttgttcagcgccttgatcAagaagaagaagaagacagcc					rs201725154		TCGA-BJ-A2N7-01A-11D-A18F-08	TCGA-BJ-A2N7-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de442e29-fc8d-43ac-ab0f-2998b2ca7df2	aabbbea7-bee7-4732-aa63-bbeebc54dcd4	g.chr9:133759490_133759492delAAG	ENST00000318560.5	+	11	2194_2196	c.1813_1815delAAG	c.(1813-1815)aagdel	p.K609del		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	609	Poly-Lys.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	CGCCTTGATCAAGAAGAAGAAGA	0.616			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"T, Mis"	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"BCR, ETV6, NUP214"		"CML, ALL, T-ALL"		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(1813-1815)del		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)																																			SO:0001651	inframe_deletion	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133759490_133759492delAAG	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1813_1815delAAG	9.37:g.133759499_133759501delAAG	ENSP00000323315:p.Lys609del						p.K609del	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	11	2194_2196	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	609			Poly-Lys.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	In_Frame_Del	DEL	ENST00000318560.5	37	c.1813_1815delAAG	CCDS35166.1																																																																																				0.616	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		7	149						7	149	---	---	---	---	-	133759492	AAG	-	133759490	7	5	26	1	0	1	0	1	0	0	0	0	92	131	5	0	1995	0	ABL1	9	133759490	In_Frame_Del	DEL	AAG	TCGA-BJ-A2N7-01A-11D-A18F-08		133759490	7453941	5	715											
CHID1	66005	broad.mit.edu	37	chr11	883172	883172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgacaacaggctcacggGcatccttggaggtcgcgtag	13	14	1	0			TCGA-BJ-A2N7-01A-11D-A18F-08	TCGA-BJ-A2N7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de442e29-fc8d-43ac-ab0f-2998b2ca7df2	f019b164-6be7-43df-b9db-6191e32ff67f	g.chr11:883172G>A	ENST00000449825.1	-	10	1291	c.935C>T	c.(934-936)gCc>gTc	p.A312V	CHID1_ENST00000323541.7_Missense_Mutation_p.A342V|CHID1_ENST00000436108.2_Missense_Mutation_p.A312V|CHID1_ENST00000429789.2_Missense_Mutation_p.A281V|CHID1_ENST00000336845.5_Missense_Mutation_p.A337V|CHID1_ENST00000454838.2_Missense_Mutation_p.A337V|CHID1_ENST00000528581.1_Missense_Mutation_p.A337V|CHID1_ENST00000323578.8_Missense_Mutation_p.A312V|CHID1_ENST00000526714.1_5'UTR	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	312					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|innate immune response (GO:0045087)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	chitinase activity (GO:0004568)|oligosaccharide binding (GO:0070492)			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		AGGCTCACGGGCATCCTTGGA	0.622																																					Pancreas(117;992 2327 5172 41921)	ENST00000449825.1																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13						c.(934-936)gCc>gTc		chitinase domain containing 1							109	102	105					11																	883172		2203	4299	6502	SO:0001583	missense	66005				chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity	g.chr11:883172G>A	AK124697	CCDS7722.1, CCDS44510.1, CCDS44511.1	11p15.5	2005-10-27			ENSG00000177830	ENSG00000177830			28474	protein-coding gene	gene with protein product		615692					Standard	NM_023947		Approved	MGC3234, FLJ42707	uc001lsm.3	Q9BWS9	OTTHUMG00000133314	ENST00000449825.1:c.935C>T	11.37:g.883172G>A	ENSP00000391255:p.Ala312Val					CHID1_ENST00000454838.2_Missense_Mutation_p.A337V|CHID1_ENST00000323541.7_Missense_Mutation_p.A342V|CHID1_ENST00000436108.2_Missense_Mutation_p.A312V|CHID1_ENST00000429789.2_Missense_Mutation_p.A281V|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000336845.5_Missense_Mutation_p.A337V|CHID1_ENST00000323578.8_Missense_Mutation_p.A312V|CHID1_ENST00000528581.1_Missense_Mutation_p.A337V	p.A312V	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)	10	1291	-		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	312					B3KWB0|Q8NBM9|Q96CZ3|Q96S93|Q96SK0|Q9BY52	Missense_Mutation	SNP	ENST00000449825.1	37	c.935C>T	CCDS7722.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006439	0.54361	.	.	ENSG00000177830	ENST00000323541;ENST00000449825;ENST00000454838;ENST00000323578;ENST00000429789;ENST00000528581;ENST00000336845;ENST00000436108;ENST00000531859	T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	4.45	4.45	0.53987	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.252260	0.32093	N	0.006595	T	0.26593	0.0650	N	0.14661	0.345	0.33775	D	0.623584	B;B;B;B;B	0.29988	0.07;0.022;0.264;0.018;0.07	B;B;B;B;B	0.26864	0.018;0.018;0.074;0.006;0.017	T	0.32079	-0.9920	10	0.24483	T	0.36	-24.6921	16.0214	0.80499	0.0:0.0:1.0:0.0	.	373;342;281;337;312	B4DN31;B7Z705;Q9BWS9-3;Q9BWS9-2;Q9BWS9	.;.;.;.;CHID1_HUMAN	V	342;312;337;312;281;337;337;312;216	ENSP00000324821:A342V;ENSP00000391255:A312V;ENSP00000398722:A337V;ENSP00000325055:A312V;ENSP00000416034:A281V;ENSP00000435503:A337V;ENSP00000338838:A337V;ENSP00000388156:A312V	ENSP00000324821:A342V	A	-	2	0	CHID1	873172	0.524000	0.26282	0.474000	0.27266	0.002000	0.02628	2.410000	0.44592	2.313000	0.78055	0.563000	0.77884	GCC		0.622	CHID1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257112.1	NM_023947		4	144	0	0	0	0.000248	0	4	144					A	883172	G	A	883172	3	1	26	1	0	0	0	0	1	0	0	0	3345	1203	42	2	262	2	CHID1	11	883172	Missense_Mutation	SNP	G	TCGA-BJ-A2N7-01A-11D-A18F-08		883172	134123344	6	716											
ASPSCR1	79058	broad.mit.edu	37	chr17	79966911	79966925	+	Splice_Site	DEL	AGCCCGTGGACCGGG	AGCCCGTGGACCGGG	-													cagccgcgccctctgcctccAgcccgtggaccgggagcccg					rs372283666|rs528114039|rs538605448	byFrequency	TCGA-BJ-A2N7-01A-11D-A18F-08	TCGA-BJ-A2N7-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de442e29-fc8d-43ac-ab0f-2998b2ca7df2	aabbbea7-bee7-4732-aa63-bbeebc54dcd4	g.chr17:79966911_79966925delAGCCCGTGGACCGGG	ENST00000306739.4	+	8	1030_1043	c.933_946delAGCCCGTGGACCGGG	c.(931-948)cgagcccgtggaccggga>cgga	p.ARGPG312del	ASPSCR1_ENST00000306729.7_Splice_Site_p.ARGPG312del|ASPSCR1_ENST00000580534.1_Splice_Site_p.ARGPG235del	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	312		Breakpoint for translocation to form ASPSCR1-TFE3.			glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)			ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CTCTGCCTCCAGCCCGTGGACCGGGAGCCCGTGGA	0.721			T	TFE3	alveolar soft part sarcoma									25	0.00499201	0.0098	0	5008	,	,		14865	0.0099		0	False		,,,				2504	0.002					ENST00000306729.7				Dom	yes		17	17q25	79058	T	"alveolar soft part sarcoma chromosome region, candidate 1"			M	TFE3		alveolar soft part sarcoma	ASPSCR1/TFE3(167)	0				breast(2)|large_intestine(2)	4						c.e8-1		alveolar soft part sarcoma chromosome region, candidate 1				48,3836		19,10,1913						1.2	0.0			11	25,7549		10,5,3772	no	coding-near-splice	ASPSCR1	NM_024083.2		29,15,5685	A1A1,A1R,RR		0.3301,1.2358,0.6371				73,11385				SO:0001630	splice_region_variant	79058						protein binding	g.chr17:79966911_79966925delAGCCCGTGGACCGGG	AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"UBX domain containing"	13825	protein-coding gene	gene with protein product	"UBX domain protein 9"	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.934-1AGCCCGTGGACCGGG>-	17.37:g.79966911_79966925delAGCCCGTGGACCGGG						ASPSCR1_ENST00000306739.4_Splice_Site_p.R311_splice|ASPSCR1_ENST00000580534.1_Splice_Site_p.R234_splice	p.R311_splice	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		8	1030_1043	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		311				Breakpoint for translocation to form ASPSCR1-TFE3.	A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Splice_Site	DEL	ENST00000306739.4	37	c.933_splice	CCDS11796.1																																																																																				0.721	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441972.1	NM_024083	In_Frame_Del	4	5						4	5	---	---	---	---	-	79966925	AGCCCGTGGACCGGG	-	79966911	8	5	26	1	0	1	0	1	0	0	1	0	1059	202	7	0	962	0	ASPSCR1	17	79966911	Splice_Site	DEL	AGCCCGTGGACCGGG	TCGA-BJ-A2N7-01A-11D-A18F-08		79966911	1228299	7	717											
DNASE2	1777	broad.mit.edu	37	chr19	12991827	12991827	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcggctgcaggcttcggcCcacggccccctccgggctgt	14	18	0	0			TCGA-BJ-A2N7-01A-11D-A18F-08	TCGA-BJ-A2N7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de442e29-fc8d-43ac-ab0f-2998b2ca7df2	f019b164-6be7-43df-b9db-6191e32ff67f	g.chr19:12991827C>T	ENST00000222219.3	-	2	318	c.226G>A	c.(226-228)Ggc>Agc	p.G76S	CTD-2265O21.7_ENST00000592400.1_RNA|DNASE2_ENST00000538460.1_Missense_Mutation_p.G76S	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal	76					apoptotic DNA fragmentation (GO:0006309)|DNA metabolic process (GO:0006259)|erythrocyte differentiation (GO:0030218)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)|DNA binding (GO:0003677)			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						AGGCTTCGGCCCACGGCCCCC	0.692																																						ENST00000222219.3																			0				breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						c.(226-228)Ggc>Agc		deoxyribonuclease II, lysosomal							25	27	26					19																	12991827		2203	4300	6503	SO:0001583	missense	1777				apoptosis	lysosome	deoxyribonuclease II activity|DNA binding|protein binding	g.chr19:12991827C>T	AF045937	CCDS12284.1	19p13.2	2012-10-02			ENSG00000105612	ENSG00000105612	3.1.22.1		2960	protein-coding gene	gene with protein product		126350		DNL, DNL2		1586130	Standard	NM_001375		Approved		uc002mvn.1	O00115		ENST00000222219.3:c.226G>A	19.37:g.12991827C>T	ENSP00000222219:p.Gly76Ser					CTD-2265O21.7_ENST00000592400.1_RNA|DNASE2_ENST00000538460.1_Missense_Mutation_p.G76S	p.G76S	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN			2	318	-			76					B2RD06|B7Z4K6|O43910	Missense_Mutation	SNP	ENST00000222219.3	37	c.226G>A	CCDS12284.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517624	0.85495	.	.	ENSG00000105612	ENST00000222219;ENST00000538460	T;T	0.14516	2.5;2.5	5.37	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.35508	0.0934	M	0.79343	2.45	0.48511	D	0.999665	D;P	0.89917	1.0;0.943	D;P	0.85130	0.997;0.823	T	0.03641	-1.1017	10	0.28530	T	0.3	.	13.2321	0.59949	0.0:0.839:0.1609:0.0	.	76;76	B7Z4K6;O00115	.;DNS2A_HUMAN	S	76	ENSP00000222219:G76S;ENSP00000445988:G76S	ENSP00000222219:G76S	G	-	1	0	DNASE2	12852827	1.000000	0.71417	1.000000	0.80357	0.388000	0.30384	3.086000	0.50159	2.529000	0.85273	0.561000	0.74099	GGC		0.692	DNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451790.1			25	19	0	0	0	0.003954	0	25	19					T	12991827	C	T	12991827	3	4	26	1	0	0	0	0	1	0	0	0	4664	623	22	2	876	2	DNASE2	19	12991827	Missense_Mutation	SNP	C	TCGA-BJ-A2N7-01A-11D-A18F-08		12991827	46137156	8	718											
ERG	2078	broad.mit.edu	37	chr21	39795356	39795356	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tggcacgataactctgcgctCgttcgtggtcatgtttgggg	14	9	2	0	rs528221936		TCGA-BJ-A2N7-01A-11D-A18F-08	TCGA-BJ-A2N7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de442e29-fc8d-43ac-ab0f-2998b2ca7df2	f019b164-6be7-43df-b9db-6191e32ff67f	g.chr21:39795356C>G	ENST00000417133.2	-	5	570	c.385G>C	c.(385-387)Gag>Cag	p.E129Q	ERG_ENST00000398905.1_Missense_Mutation_p.E122Q|ERG_ENST00000442448.1_Missense_Mutation_p.E129Q|ERG_ENST00000398911.1_Missense_Mutation_p.E129Q|ERG_ENST00000398919.2_Missense_Mutation_p.E129Q|ERG_ENST00000453032.2_Missense_Mutation_p.E30Q|ERG_ENST00000398897.1_Missense_Mutation_p.E30Q|ERG_ENST00000429727.2_Missense_Mutation_p.E122Q|ERG_ENST00000288319.7_Missense_Mutation_p.E122Q|ERG_ENST00000398907.1_Missense_Mutation_p.E122Q|ERG_ENST00000398910.1_Missense_Mutation_p.E129Q	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	147	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	ACTCTGCGCTCGTTCGTGGTC	0.597			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"								C|||	1	0.000199681	0	0	5008	,	,		15696	0		0	False		,,,				2504	0.001				Esophageal Squamous(130;336 1700 3010 3083 40589)	ENST00000442448.1				Dom	yes		21	21q22.3	2078	T	v-ets erythroblastosis virus E26 oncogene like (avian)			"M, E, L"	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"		"Ewing sarcoma, prostate, AML"	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	0				lung(2)|ovary(1)|skin(1)	4						c.(385-387)Gag>Cag		v-ets avian erythroblastosis virus E26 oncogene homolog							235	152	180					21																	39795356		2203	4300	6503	SO:0001583	missense	2078				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:39795356C>G		CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"v-ets avian erythroblastosis virus E26 oncogene related", "transcriptional regulator ERG (transforming protein ERG)", "v-ets erythroblastosis virus E26 oncogene like", "TMPRSS2-ERG prostate cancer specific"	165080	"v-ets avian erythroblastosis virus E26 oncogene related"			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.385G>C	21.37:g.39795356C>G	ENSP00000414150:p.Glu129Gln					ERG_ENST00000398907.1_Missense_Mutation_p.E122Q|ERG_ENST00000288319.7_Missense_Mutation_p.E122Q|ERG_ENST00000398897.1_Missense_Mutation_p.E30Q|ERG_ENST00000398919.2_Missense_Mutation_p.E129Q|ERG_ENST00000417133.2_Missense_Mutation_p.E129Q|ERG_ENST00000453032.2_Missense_Mutation_p.E30Q|ERG_ENST00000398911.1_Missense_Mutation_p.E129Q|ERG_ENST00000398905.1_Missense_Mutation_p.E122Q|ERG_ENST00000398910.1_Missense_Mutation_p.E129Q|ERG_ENST00000429727.2_Missense_Mutation_p.E122Q	p.E129Q	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN			5	656	-		Prostate(19;3.6e-06)	129			PNT.		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000417133.2	37	c.385G>C	CCDS46648.1	.	.	.	.	.	.	.	.	.	.	C	34	5.368390	0.95900	.	.	ENSG00000157554	ENST00000398905;ENST00000398907;ENST00000288319;ENST00000398897;ENST00000398911;ENST00000417133;ENST00000398910;ENST00000442448;ENST00000453032;ENST00000398919;ENST00000429727	T;T;T;T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6	5.05	5.05	0.67936	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.000000	0.85682	D	0.000000	T	0.46852	0.1414	L	0.31926	0.97	0.58432	D	0.999997	D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.999;0.999	D;D;D;D;D;D	0.85130	0.997;0.992;0.995;0.997;0.986;0.981	T	0.40590	-0.9555	10	0.48119	T	0.1	.	18.7902	0.91971	0.0:1.0:0.0:0.0	.	122;129;122;129;129;122	B4E3C5;P11308;B5MDW0;P11308-6;P11308-1;P11308-4	.;ERG_HUMAN;.;.;.;.	Q	122;122;122;30;129;129;129;129;30;129;122	ENSP00000381877:E122Q;ENSP00000381879:E122Q;ENSP00000288319:E122Q;ENSP00000381871:E30Q;ENSP00000381882:E129Q;ENSP00000414150:E129Q;ENSP00000381881:E129Q;ENSP00000394694:E129Q;ENSP00000396268:E30Q;ENSP00000381891:E129Q	ENSP00000288319:E122Q	E	-	1	0	ERG	38717226	1.000000	0.71417	0.987000	0.45799	0.967000	0.64934	7.445000	0.80570	2.503000	0.84419	0.561000	0.74099	GAG		0.597	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	NM_182918		12	23	0	0	0	0.001855	0	12	23					G	39795356	C	G	39795356	3	3	26	1	0	0	0	0	1	0	0	0	5222	893	31	4	1107	4	ERG	21	39795356	Missense_Mutation	SNP	C	TCGA-BJ-A2N7-01A-11D-A18F-08		39795356	8334539	9	719											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290	byFrequency	TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		neuroblastoma RAS viral (v-ras) oncogene homolog							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		60	109	0	0	0	0.00361006	0	60	109					C	115256529	T	C	115256529	3	2	27	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-BJ-A2N8-01A-11D-A18F-08		115256529	133994092	1	720											
CFHR5	81494	broad.mit.edu	37	chr1	196964999	196964999	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaaaatacaatgtgtggatGgagaatggacaactttaccc	10	6	0	2	rs201472916		TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr1:196964999G>T	ENST00000256785.4	+	5	869	c.760G>T	c.(760-762)Gga>Tga	p.G254*	CFHR5_ENST00000367414.5_Nonsense_Mutation_p.G278*			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	254	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ATGTGTGGATGGAGAATGGAC	0.308																																						ENST00000367414.5																			0				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						c.(832-834)Gga>Tga		complement factor H-related 5							88	96	93					1																	196964999		2203	4300	6503	SO:0001587	stop_gained	81494				complement activation, alternative pathway	extracellular region		g.chr1:196964999G>T	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"Complement system"	24668	protein-coding gene	gene with protein product	"factor H related protein 5"	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.760G>T	1.37:g.196964999G>T	ENSP00000256785:p.Gly254*					CFHR5_ENST00000256785.4_Nonsense_Mutation_p.G254*	p.G278*	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN			5	888	+			254			Sushi 5.		Q2NKK2	Nonsense_Mutation	SNP	ENST00000256785.4	37	c.832G>T	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.433947	0.62955	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	.	.	.	3.49	3.49	0.39957	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	10.838	0.46698	0.0:0.0:1.0:0.0	.	.	.	.	X	278;254	.	ENSP00000256785:G254X	G	+	1	0	CFHR5	195231622	1.000000	0.71417	0.435000	0.26784	0.052000	0.14988	3.147000	0.50639	1.670000	0.50864	0.544000	0.68410	GGA		0.308	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		4	37	1	0	0.000602214	0.000602214	0.0019787	4	37					T	196964999	G	T	196964999	4	4	27	1	0	0	0	0	0	1	0	0	3288	1349	47	4	778	4	CFHR5	1	196964999	Nonsense_Mutation	SNP	G	TCGA-BJ-A2N8-01A-11D-A18F-08	81708470	196964999	52285622	2	721											
ADCY3	109	broad.mit.edu	37	chr2	25061434	25061434	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggctgcccccatcgcctggCtccacatcaaactccccttt	6	20	1	0	rs577337871		TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr2:25061434C>A	ENST00000260600.5	-	7	2264	c.1413G>T	c.(1411-1413)gaG>gaT	p.E471D	ADCY3_ENST00000405392.1_Missense_Mutation_p.E104D	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	471					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)|cellular response to glucagon stimulus (GO:0071377)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CATCGCCTGGCTCCACATCAA	0.577																																						ENST00000260600.5																			0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.(1411-1413)gaG>gaT		adenylate cyclase 3							152	150	151					2																	25061434		2203	4300	6503	SO:0001583	missense	109				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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25061434C>A	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"Adenylate cyclases"	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.1413G>T	2.37:g.25061434C>A	ENSP00000260600:p.Glu471Asp					ADCY3_ENST00000405392.1_Missense_Mutation_p.E104D	p.E471D	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN			7	2264	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		471					B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	c.1413G>T	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.526425	0.44969	.	.	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879;ENST00000454027;ENST00000427849;ENST00000435135	T;D;T;T;T	0.88741	-1.48;-2.42;-1.48;-1.48;-1.48	5.3	3.46	0.39613	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.85682	D	0.000000	D	0.93805	0.8019	M	0.82132	2.575	0.39024	D	0.959798	D;D;D	0.89917	0.992;0.992;1.0	D;D;D	0.91635	0.994;0.994;0.999	D	0.93431	0.6785	10	0.87932	D	0	.	11.944	0.52918	0.0:0.7902:0.0:0.2098	.	471;471;104	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	D	471;104;446;97;227;421	ENSP00000260600:E471D;ENSP00000384484:E104D;ENSP00000410120:E97D;ENSP00000399275:E227D;ENSP00000389799:E421D	ENSP00000260600:E471D	E	-	3	2	ADCY3	24914938	1.000000	0.71417	0.993000	0.49108	0.215000	0.24574	2.058000	0.41374	0.214000	0.20742	-0.797000	0.03246	GAG		0.577	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			5	149	1	0	0.00198382	0.00198382	0.00629349	5	149					A	25061434	C	A	25061434	3	1	27	1	0	0	0	0	1	0	0	0	295	796	28	4	2081	4	ADCY3	2	25061434	Missense_Mutation	SNP	C	TCGA-BJ-A2N8-01A-11D-A18F-08		25061434	218137939	3	722											
SCN9A	6335	broad.mit.edu	37	chr2	167142878	167142878	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacaacctcttttcatgtgCtcgcctatgcccttcgacac	6	15	2	1			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr2:167142878C>T	ENST00000409435.1	-	10	1569	c.1570G>A	c.(1570-1572)Gca>Aca	p.A524T	SCN9A_ENST00000409672.1_Missense_Mutation_p.A524T|SCN9A_ENST00000375387.4_Missense_Mutation_p.A525T|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.A525T			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	524					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTTTCATGTGCTCGCCTATGC	0.443																																						ENST00000303354.6																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(1573-1575)Gca>Aca		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						257	241	246					2																	167142878		1929	4137	6066	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167142878C>T	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1570G>A	2.37:g.167142878C>T	ENSP00000386330:p.Ala524Thr					AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Missense_Mutation_p.A524T|SCN9A_ENST00000409672.1_Missense_Mutation_p.A524T|SCN9A_ENST00000375387.4_Missense_Mutation_p.A525T	p.A525T			Q15858	SCN9A_HUMAN			11	1913	-			524					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.1573G>A	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.698242	0.00725	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6;-2.6;-2.6	5.76	1.79	0.24919	Domain of unknown function DUF3451 (1);	2.855450	0.01030	N	0.004121	T	0.69646	0.3134	N	0.00966	-1.09	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.12156	0.001;0.007;0.001	T	0.69083	-0.5239	10	0.02654	T	1	.	7.7958	0.29146	0.0:0.5993:0.1067:0.294	.	524;524;525	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	T	524;525;525;524;389;389	ENSP00000386306:A524T;ENSP00000364536:A525T;ENSP00000304748:A525T;ENSP00000386330:A524T;ENSP00000413212:A389T;ENSP00000393141:A389T	ENSP00000304748:A525T	A	-	1	0	SCN9A	166851124	0.000000	0.05858	0.105000	0.21289	0.085000	0.17905	-0.500000	0.06405	0.317000	0.23160	0.585000	0.79938	GCA		0.443	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		12	263	0	0	0	0.000978159	0	12	263					T	167142878	C	T	167142878	3	4	27	1	0	0	0	0	1	0	0	0	13925	797	28	2	4431	2	SCN9A	2	167142878	Missense_Mutation	SNP	C	TCGA-BJ-A2N8-01A-11D-A18F-08	142081444	167142878	76056495	4	723											
LASS6	253782	broad.mit.edu	37	chr2	169547576	169547576	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggaatacgaggcattgctgGtacaactacccctatcaggt	10	10	1	0			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr2:169547576G>C	ENST00000305747.6	+	5	1085	c.498G>C	c.(496-498)tgG>tgC	p.W166C	CERS6_ENST00000392687.4_Missense_Mutation_p.W166C	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	166	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										GGCATTGCTGGTACAACTACC	0.388																																						ENST00000305747.6																			0											c.(496-498)tgG>tgC		ceramide synthase 6							155	157	156					2																	169547576		2203	4300	6503	SO:0001583	missense	253782					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr2:169547576G>C	BX393696	CCDS2228.1, CCDS58734.1	2q31	2011-07-11	2011-07-08	2011-07-08	ENSG00000172292	ENSG00000172292		"Homeoboxes / CERS class"	23826	protein-coding gene	gene with protein product		615336	"LAG1 longevity assurance homolog 6 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 6"	LASS6			Standard	NM_203463		Approved		uc002uec.2	Q6ZMG9	OTTHUMG00000132183	ENST00000305747.6:c.498G>C	2.37:g.169547576G>C	ENSP00000306579:p.Trp166Cys					CERS6_ENST00000392687.4_Missense_Mutation_p.W166C	p.W166C	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN			5	1085	+			166			TLC.		Q32M63|Q8N617	Missense_Mutation	SNP	ENST00000305747.6	37	c.498G>C	CCDS2228.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063957	0.76187	.	.	ENSG00000172292	ENST00000305747;ENST00000392687	D;D	0.86366	-2.11;-2.11	5.94	5.94	0.96194	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.85682	D	0.000000	D	0.96012	0.8701	H	0.96460	3.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.96728	0.9537	10	0.87932	D	0	-34.7055	19.1451	0.93461	0.0:0.0:1.0:0.0	.	166;166	Q32M63;Q6ZMG9	.;CERS6_HUMAN	C	166	ENSP00000306579:W166C;ENSP00000376453:W166C	ENSP00000306579:W166C	W	+	3	0	CERS6	169255822	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.139000	0.89615	2.820000	0.97059	0.650000	0.86243	TGG		0.388	CERS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255235.2	NM_203463		3	96	0	0	0	6.4e-05	0	3	96					C	169547576	G	C	169547576	3	2	27	1	0	0	0	0	1	0	0	0	8643	1270	44	4	516	4	LASS6	2	169547576	Missense_Mutation	SNP	G	TCGA-BJ-A2N8-01A-11D-A18F-08	2404698	169547576	73651797	5	724											
FKBPL	63943	broad.mit.edu	37	chr6	32096729	32096729	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggctcccgctccaacacccGgtcacagctctgggctgcca	10	18	2	0			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr6:32096729G>C	ENST00000375156.3	-	2	1099	c.829C>G	c.(829-831)Cgg>Ggg	p.R277G	ATF6B_ENST00000468502.1_5'Flank|ATF6B_ENST00000375203.3_5'Flank|ATF6B_ENST00000375201.4_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	277					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)										TCCAACACCCGGTCACAGCTC	0.592																																						ENST00000375156.3																			0											c.(829-831)Cgg>Ggg		FK506 binding protein like							53	58	56					6																	32096729		2203	4300	6503	SO:0001583	missense	63943				response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr6:32096729G>C	AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"Tetratricopeptide (TTC) repeat domain containing"	13949	protein-coding gene	gene with protein product	"WAF-1/CIP1 stabilizing protein 39"		"FK506-binding protein like"			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.829C>G	6.37:g.32096729G>C	ENSP00000364298:p.Arg277Gly						p.R277G	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN			2	1099	-			277					A8K5V3|B0UYX8|Q9H5G3	Missense_Mutation	SNP	ENST00000375156.3	37	c.829C>G	CCDS4738.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010601	0.75046	.	.	ENSG00000204315	ENST00000375156	T	0.61040	0.14	5.87	4.02	0.46733	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.181999	0.34986	N	0.003532	T	0.64068	0.2565	M	0.75615	2.305	0.36303	D	0.857161	D	0.63880	0.993	D	0.64687	0.928	T	0.69172	-0.5215	10	0.51188	T	0.08	-12.5954	12.9986	0.58662	0.0:0.0:0.677:0.3229	.	277	Q9UIM3	FKBPL_HUMAN	G	277	ENSP00000364298:R277G	ENSP00000364298:R277G	R	-	1	2	FKBPL	32204707	0.984000	0.35163	0.999000	0.59377	0.993000	0.82548	0.971000	0.29396	0.749000	0.32854	0.561000	0.74099	CGG		0.592	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076221.2			9	83	0	0	0	0.000274275	0	9	83					C	32096729	G	C	32096729	3	2	27	1	0	0	0	0	1	0	0	0	5916	1115	39	4	224	4	FKBPL	6	32096729	Missense_Mutation	SNP	G	TCGA-BJ-A2N8-01A-11D-A18F-08		32096729	139018338	6	725											
ZNF804B	219578	broad.mit.edu	37	chr7	88965206	88965206	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaattcaacttgcaccatcAggctgtaacagacaagcatt	6	11	2	1			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr7:88965206A>G	ENST00000333190.4	+	4	3519	c.2910A>G	c.(2908-2910)tcA>tcG	p.S970S		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	970							metal ion binding (GO:0046872)			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)			TTGCACCATCAGGCTGTAACA	0.408										HNSCC(36;0.09)																												ENST00000333190.4																			0				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.(2908-2910)tcA>tcG		zinc finger protein 804B							111	111	111					7																	88965206		2203	4300	6503	SO:0001819	synonymous_variant	219578					intracellular	zinc ion binding	g.chr7:88965206A>G	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.2910A>G	7.37:g.88965206A>G		HNSCC(36;0.09)					p.S970S	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	3519	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		970					B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	37	c.2910A>G	CCDS5613.1																																																																																				0.408	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		3	98	0	0	0	0.00024832	0	3	98					G	88965206	A	G	88965206	2	3	27	1	0	0	0	0	0	0	0	1	18168	175	7	3		3	ZNF804B	7	88965206	Silent	SNP	A	TCGA-BJ-A2N8-01A-11D-A18F-08		88965206	70173457	7	726											
RET	5979	broad.mit.edu	37	chr10	43607566	43607566	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgtggccgaggaggcgggCtgccccctgtcctgtgcagt	17	12	0	0			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr10:43607566C>A	ENST00000355710.3	+	8	1774	c.1542C>A	c.(1540-1542)ggC>ggA	p.G514G	RET_ENST00000340058.5_Silent_p.G514G	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	514					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	AGGAGGCGGGCTGCCCCCTGT	0.662		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"T, Mis, N, F"	ret proto-oncogene	yes	Hirschsprung disease	"E, O"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(1540-1542)ggC>ggA		ret proto-oncogene	Sunitinib(DB01268)						61	57	58					10																	43607566		2202	4297	6499	SO:0001819	synonymous_variant	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43607566C>A	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1542C>A	10.37:g.43607566C>A						RET_ENST00000340058.5_Silent_p.G514G	p.G514G	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			8	1774	+		Ovarian(717;0.0423)	514					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	ENST00000355710.3	37	c.1542C>A	CCDS7200.1																																																																																				0.662	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		3	6	1	0	0.00024832	0.00024832	0.000846127	3	6					A	43607566	C	A	43607566	2	1	27	1	0	0	0	0	0	0	0	1	13235	784	28	4		4	RET	10	43607566	Silent	SNP	C	TCGA-BJ-A2N8-01A-11D-A18F-08		43607566	91927181	8	727											
STT3A	3703	broad.mit.edu	37	chr11	125482924	125482940	+	Frame_Shift_Del	DEL	TCACCTACACCTTTCAT	TCACCTACACCTTTCAT	-													ggtcatggctttctttctcaTcacctacacctttcattcaa							TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr11:125482924_125482940delTCACCTACACCTTTCAT	ENST00000529196.1	+	14	1612_1628	c.1406_1422delTCACCTACACCTTTCAT	c.(1405-1422)atcacctacacctttcatfs	p.ITYTFH469fs	STT3A_ENST00000392708.4_Frame_Shift_Del_p.ITYTFH469fs|STT3A_ENST00000531491.1_Frame_Shift_Del_p.ITYTFH377fs			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	469					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		TTCTTTCTCATCACCTACACCTTTCATTCAACCTGGG	0.442																																						ENST00000392708.4																			0				NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33						c.(1405-1422)afs		STT3A, subunit of the oligosaccharyltransferase complex (catalytic)																																				SO:0001589	frameshift_variant	3703				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity	g.chr11:125482924_125482940delTCACCTACACCTTTCAT	BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"dolichyl-diphosphooligosaccharide protein glycotransferase"	601134	"integral membrane protein 1", "STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)", "STT3A, cataylic subunit of the oligosaccharyltransferase complex"	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.1406_1422delTCACCTACACCTTTCAT	11.37:g.125482924_125482940delTCACCTACACCTTTCAT	ENSP00000436962:p.Ile469fs					STT3A_ENST00000531491.1_Frame_Shift_Del_p.ITYTFH377fs|STT3A_ENST00000529196.1_Frame_Shift_Del_p.ITYTFH469fs	p.ITYTFH469fs	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)	13	1565_1581	+	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	469					B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Frame_Shift_Del	DEL	ENST00000529196.1	37	c.1406_1422delTCACCTACACCTTTCAT	CCDS8458.1																																																																																				0.442	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386691.1	NM_152713		8	239						8	239	---	---	---	---	-	125482940	TCACCTACACCTTTCAT	-	125482924	7	5	27	1	0	1	0	1	0	0	0	0	15332	1435	50	0	1452	0	STT3A	11	125482924	Frame_Shift_Del	DEL	TCACCTACACCTTTCAT	TCGA-BJ-A2N8-01A-11D-A18F-08		125482924	9523592	9	728											
WNT5B	81029	broad.mit.edu	37	chr12	1741882	1741882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatcatcggtgcccagcccGtgtgcagtcagcttcccggg	12	14	2	0	rs138238149		TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr12:1741882G>A	ENST00000397196.2	+	3	371	c.139G>A	c.(139-141)Gtg>Atg	p.V47M	WNT5B_ENST00000310594.3_Missense_Mutation_p.V47M|WNT5B_ENST00000542408.1_Missense_Mutation_p.V47M|WNT5B_ENST00000537031.1_Missense_Mutation_p.V47M	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	47					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fat cell differentiation (GO:0045444)|lens fiber cell development (GO:0070307)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor binding (GO:0005102)			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			TGCCCAGCCCGTGTGCAGTCA	0.567																																						ENST00000397196.2																			0				skin(1)	1						c.(139-141)Gtg>Atg		wingless-type MMTV integration site family, member 5B							102	106	105					12																	1741882		2203	4300	6503	SO:0001583	missense	81029				angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding	g.chr12:1741882G>A	AB060966	CCDS8510.1	12p13.3	2008-07-07			ENSG00000111186	ENSG00000111186		"Wingless-type MMTV integration sites"	16265	protein-coding gene	gene with protein product		606361				11445850	Standard	NM_030775		Approved		uc001qjk.3	Q9H1J7	OTTHUMG00000090375	ENST00000397196.2:c.139G>A	12.37:g.1741882G>A	ENSP00000380379:p.Val47Met					WNT5B_ENST00000542408.1_Missense_Mutation_p.V47M|WNT5B_ENST00000537031.1_Missense_Mutation_p.V47M|WNT5B_ENST00000310594.3_Missense_Mutation_p.V47M	p.V47M	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00109)		3	371	+	Ovarian(42;0.107)		47					A8K315|D3DUP9|Q96S49|Q9BV04	Missense_Mutation	SNP	ENST00000397196.2	37	c.139G>A	CCDS8510.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693665	0.48202	.	.	ENSG00000111186	ENST00000539198;ENST00000545811;ENST00000537031;ENST00000310594;ENST00000397196;ENST00000543071;ENST00000542408	T;T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	5.3	5.3	0.74995	.	0.240720	0.34750	N	0.003712	T	0.51601	0.1684	N	0.04655	-0.195	0.47659	D	0.999489	B	0.26577	0.153	B	0.26770	0.073	T	0.52525	-0.8564	10	0.10902	T	0.67	.	14.5596	0.68126	0.0:0.146:0.854:0.0	.	47	Q9H1J7	WNT5B_HUMAN	M	47	ENSP00000438414:V47M;ENSP00000445395:V47M;ENSP00000439312:V47M;ENSP00000308887:V47M;ENSP00000380379:V47M;ENSP00000442348:V47M;ENSP00000440600:V47M	ENSP00000308887:V47M	V	+	1	0	WNT5B	1612143	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	3.380000	0.52448	2.475000	0.83589	0.557000	0.71058	GTG		0.567	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206747.2			19	120	0	0	0	0.00121646	0	19	120					A	1741882	G	A	1741882	3	1	27	1	0	0	0	0	1	0	0	0	17389	1145	40	1	145	1	WNT5B	12	1741882	Missense_Mutation	SNP	G	TCGA-BJ-A2N8-01A-11D-A18F-08		1741882	132110013	10	729											
GTF2F2	2963	broad.mit.edu	37	chr13	45725876	45725876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatgatattggtggaaaaCcagcttcagtcagtgctcct	9	9	3	1			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr13:45725876C>T	ENST00000340473.6	+	4	355	c.214C>T	c.(214-216)Cca>Tca	p.P72S		NM_004128.2	NP_004119.1	P13984	T2FB_HUMAN	general transcription factor IIF, polypeptide 2, 30kDa	72					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|prostate(1)|upper_aerodigestive_tract(1)	10		Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000647)		TGGTGGAAAACCAGCTTCAGT	0.378																																						ENST00000340473.6																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(214-216)Cca>Tca		general transcription factor IIF, polypeptide 2, 30kDa							166	157	160					13																	45725876		2203	4300	6503	SO:0001583	missense	2963				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	microtubule cytoskeleton|transcription factor TFIIF complex	ATP binding|ATP-dependent helicase activity|DNA binding|protein binding	g.chr13:45725876C>T	X16901	CCDS9395.1	13q14	2012-01-23	2002-08-29		ENSG00000188342	ENSG00000188342		"General transcription factors"	4653	protein-coding gene	gene with protein product		189969	"general transcription factor IIF, polypeptide 1 (74kD subunit)"			8162052	Standard	NM_004128		Approved	TFIIF, BTF4, RAP30	uc001uzw.3	P13984	OTTHUMG00000016849	ENST00000340473.6:c.214C>T	13.37:g.45725876C>T	ENSP00000340823:p.Pro72Ser						p.P72S	NM_004128.2	NP_004119.1	P13984	T2FB_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000647)	4	355	+		Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	72					A6NNS5|Q5W0H3	Missense_Mutation	SNP	ENST00000340473.6	37	c.214C>T	CCDS9395.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.052999	0.36181	.	.	ENSG00000188342	ENST00000340473	.	.	.	5.88	5.88	0.94601	Transcription Factor IIF, Rap30/Rap74, interaction (1);	0.113026	0.64402	D	0.000009	T	0.59088	0.2168	L	0.61036	1.89	0.51233	D	0.999913	B	0.06786	0.001	B	0.06405	0.002	T	0.54768	-0.8244	9	0.41790	T	0.15	-9.7873	12.5139	0.56021	0.0:0.9246:0.0:0.0754	.	72	P13984	T2FB_HUMAN	S	72	.	ENSP00000340823:P72S	P	+	1	0	GTF2F2	44623876	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.149000	0.42244	2.769000	0.95229	0.655000	0.94253	CCA		0.378	GTF2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044767.2	NM_004128		4	82	0	0	0	0.00024832	0	4	82					T	45725876	C	T	45725876	3	4	27	1	0	0	0	0	1	0	0	0	6859	507	18	2	228	2	GTF2F2	13	45725876	Missense_Mutation	SNP	C	TCGA-BJ-A2N8-01A-11D-A18F-08		45725876	69444002	11	730											
OR4N4	283694	broad.mit.edu	37	chr15	22383218	22383218	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgtcattattatacttcTtatgtttggacctgctatct	6	8	3	0			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr15:22383218T>C	ENST00000328795.4	+	1	837	c.746T>C	c.(745-747)cTt>cCt	p.L249P	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATTATACTTCTTATGTTTGGA	0.468																																						ENST00000328795.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40						c.(745-747)cTt>cCt		olfactory receptor, family 4, subfamily N, member 4							232	203	213					15																	22383218		2192	4263	6455	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22383218T>C	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"GPCR / Class A : Olfactory receptors"	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.746T>C	15.37:g.22383218T>C	ENSP00000332500:p.Leu249Pro					RP11-69H14.6_ENST00000558896.1_RNA	p.L249P	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	837	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	249					Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.746T>C	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	10.21	1.286599	0.23478	.	.	ENSG00000183706	ENST00000328795	T	0.00302	8.2	3.2	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.175058	0.27549	N	0.018868	T	0.01124	0.0037	H	0.98370	4.215	0.38917	D	0.957663	D	0.76494	0.999	D	0.76575	0.988	T	0.18429	-1.0337	10	0.87932	D	0	-8.8255	9.7407	0.40416	0.0:0.0:0.0:1.0	.	249	Q8N0Y3	OR4N4_HUMAN	P	249	ENSP00000332500:L249P	ENSP00000332500:L249P	L	+	2	0	OR4N4	19884582	0.175000	0.23083	0.973000	0.42090	0.018000	0.09664	3.334000	0.52097	1.454000	0.47793	0.332000	0.21555	CTT		0.468	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			4	209	0	0	0	0.00024832	0	4	209					C	22383218	T	C	22383218	3	2	27	1	0	0	0	0	1	0	0	0	11078	1609	56	3	748	3	OR4N4	15	22383218	Missense_Mutation	SNP	T	TCGA-BJ-A2N8-01A-11D-A18F-08		22383218	80148174	12	731											
THOC1	9984	broad.mit.edu	37	chr18	246403	246403	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatcttttttcttgaggccTgagtatcatctaatttataa	5	8	4	2			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr18:246403T>C	ENST00000261600.6	-	11	846	c.839A>G	c.(838-840)cAg>cGg	p.Q280R	THOC1_ENST00000582313.1_5'UTR	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	280					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TCTTGAGGCCTGAGTATCATC	0.269																																						ENST00000261600.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20						c.(838-840)cAg>cGg		THO complex 1							46	47	46					18																	246403		1786	4048	5834	SO:0001583	missense	9984				apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding	g.chr18:246403T>C	AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"THO complex subunits"	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.839A>G	18.37:g.246403T>C	ENSP00000261600:p.Gln280Arg					THOC1_ENST00000582313.1_5'UTR	p.Q280R	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN			11	846	-		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	280					B2RBP6|Q15219|Q64I72|Q64I73	Missense_Mutation	SNP	ENST00000261600.6	37	c.839A>G	CCDS45820.1	.	.	.	.	.	.	.	.	.	.	T	10.08	1.253312	0.22965	.	.	ENSG00000079134	ENST00000261600	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.46171	0.1379	N	0.13235	0.315	0.58432	D	0.999999	B;D	0.57571	0.2;0.98	B;P	0.55577	0.069;0.779	T	0.38222	-0.9671	9	0.05620	T	0.96	-10.0384	16.1668	0.81768	0.0:0.0:0.0:1.0	.	280;280	Q96FV9-2;Q96FV9	.;THOC1_HUMAN	R	280	.	ENSP00000261600:Q280R	Q	-	2	0	THOC1	236403	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.678000	0.84035	2.210000	0.71456	0.533000	0.62120	CAG		0.269	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5	NM_005131		3	61	0	0	0	0.00024832	0	3	61					C	246403	T	C	246403	3	2	27	1	0	0	0	0	1	0	0	0	15861	1580	55	3	1178	3	THOC1	18	246403	Missense_Mutation	SNP	T	TCGA-BJ-A2N8-01A-11D-A18F-08		246403	77830845	13	732											
CDH7	1005	broad.mit.edu	37	chr18	63477091	63477091	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaggcctactacacgctccGagctcaagcgctggataggc	12	14	1	0			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr18:63477091G>A	ENST00000397968.2	+	3	788	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	CDH7_ENST00000323011.3_Missense_Mutation_p.R121Q|CDH7_ENST00000536984.2_Missense_Mutation_p.R121Q	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	121	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R121L(2)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TACACGCTCCGAGCTCAAGCG	0.493																																						ENST00000536984.2																			2	Substitution - Missense(2)	p.R121L(2)	lung(2)	NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80						c.(361-363)cGa>cAa		cadherin 7, type 2							71	67	69					18																	63477091		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63477091G>A	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.362G>A	18.37:g.63477091G>A	ENSP00000381058:p.Arg121Gln					CDH7_ENST00000397968.2_Missense_Mutation_p.R121Q|CDH7_ENST00000323011.3_Missense_Mutation_p.R121Q	p.R121Q			Q9ULB5	CADH7_HUMAN			3	1056	+		Esophageal squamous(42;0.129)	121			Cadherin 1.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.362G>A	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.501863	0.64298	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.50548	0.74;0.74;0.74	5.83	5.83	0.93111	Cadherin (4);Cadherin-like (1);	0.152719	0.45361	D	0.000373	T	0.39306	0.1073	L	0.45285	1.41	0.58432	D	0.999994	P;P	0.45428	0.858;0.467	B;B	0.29716	0.106;0.023	T	0.43621	-0.9380	10	0.52906	T	0.07	.	20.1416	0.98058	0.0:0.0:1.0:0.0	.	121;121	F5H5X9;Q9ULB5	.;CADH7_HUMAN	Q	121	ENSP00000319166:R121Q;ENSP00000443030:R121Q;ENSP00000381058:R121Q	ENSP00000319166:R121Q	R	+	2	0	CDH7	61628071	0.998000	0.40836	0.290000	0.24890	0.879000	0.50718	4.835000	0.62781	2.767000	0.95098	0.650000	0.86243	CGA		0.493	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		7	55	0	0	0	0.00198382	0	7	55					A	63477091	G	A	63477091	3	1	27	1	0	0	0	0	1	0	0	0	3115	1058	37	1	368	1	CDH7	18	63477091	Missense_Mutation	SNP	G	TCGA-BJ-A2N8-01A-11D-A18F-08	63230688	63477091	14600157	14	733											
FKRP	79147	broad.mit.edu	37	chr19	47259967	47259967	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cacgtggacctgtggcccttCtacccccgcaatggcgtcat	10	16	2	0			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr19:47259967C>G	ENST00000318584.5	+	4	1557	c.1260C>G	c.(1258-1260)ttC>ttG	p.F420L	FKRP_ENST00000600646.1_Intron|FKRP_ENST00000391909.3_Missense_Mutation_p.F420L	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	420					glycoprotein biosynthetic process (GO:0009101)|protein processing (GO:0016485)	dystrophin-associated glycoprotein complex (GO:0016010)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)	transferase activity (GO:0016740)			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		TGTGGCCCTTCTACCCCCGCA	0.627																																						ENST00000318584.5																			0				NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(1258-1260)ttC>ttG		fukutin related protein							89	50	64					19																	47259967		2203	4300	6503	SO:0001583	missense	79147					extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity	g.chr19:47259967C>G	AJ314847	CCDS12691.1	19q13.32	2014-09-17			ENSG00000181027	ENSG00000181027			17997	protein-coding gene	gene with protein product		606596				11592034, 11741828	Standard	NM_024301		Approved	LGMD2I, MDC1C	uc002pfp.2	Q9H9S5		ENST00000318584.5:c.1260C>G	19.37:g.47259967C>G	ENSP00000326570:p.Phe420Leu					FKRP_ENST00000600646.1_Intron|FKRP_ENST00000391909.3_Missense_Mutation_p.F420L	p.F420L	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)	4	1557	+		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	420					A8K5G7	Missense_Mutation	SNP	ENST00000318584.5	37	c.1260C>G	CCDS12691.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.763224	0.69763	.	.	ENSG00000181027	ENST00000391909;ENST00000318584	D;D	0.99637	-6.29;-6.29	5.15	4.09	0.47781	.	0.000000	0.85682	D	0.000000	D	0.99390	0.9785	M	0.62723	1.935	0.53005	D	0.999967	D	0.63880	0.993	D	0.72625	0.978	D	0.98725	1.0710	10	0.54805	T	0.06	-16.9604	13.0076	0.58715	0.0:0.9188:0.0:0.0812	.	420	Q9H9S5	FKRP_HUMAN	L	420	ENSP00000375776:F420L;ENSP00000326570:F420L	ENSP00000326570:F420L	F	+	3	2	FKRP	51951807	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	2.954000	0.49113	1.148000	0.42385	0.305000	0.20034	TTC		0.627	FKRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465473.1	NM_024301		2	13	0	0	0	6.4e-05	0	2	13					G	47259967	C	G	47259967	3	3	27	1	0	0	0	0	1	0	0	0	5917	912	32	4	1262	4	FKRP	19	47259967	Missense_Mutation	SNP	C	TCGA-BJ-A2N8-01A-11D-A18F-08		47259967	11869016	15	734											
GAGE2A	729408	broad.mit.edu	37	chrX	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT													gttggcgaggaagatcgaccINStatcggcctagaccaagacg					rs372553636		TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(25-27)tat>TATtat	p.9_9Y>YY		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1	Q9UEU5	GGE2D_HUMAN	G antigen 2D	9					cellular defense response (GO:0006968)												GAAGATCGACCTATCGGCCTAG	0.465														477	0.126358	0.031	0.098	3775	,	,		26951	0.0972		0.1441	False		,,,				2504	0.1278					ENST00000404720.2																			0											c.(22-27)acatcg>acTATatcg		G antigen 2D				10,505,1500		1,1,3,4,46,330,82,490,187						-1.1	0.0			8	27,1244,2482		1,3,16,6,128,539,446,675,577	no	codingComplex	GAGE2D	NM_001098407.1		2,4,19,10,174,869,528,1165,764	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.8662,25.5583,30.9639				37,1749,3982				SO:0001652	inframe_insertion	729408							g.chrX:49208295_49208296insTAT			Xp11.23	2012-10-02			ENSG00000240257				31959	protein-coding gene	gene with protein product		300735					Standard	NM_001098407		Approved	GAGE8		Q9UEU5	OTTHUMG00000067393	ENST00000404720.2:c.25_27dupTAT	X.37:g.49208296_49208298dupTAT	ENSP00000386110:p.Tyr9dup						p.8_9TS>TIS	NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1					2	96_97	+								A6NG46|A6NNR8|B7ZL76|Q4V325	In_Frame_Ins	INS	ENST00000404720.2	37	c.24_25insTAT	CCDS43941.1																																																																																				0.465	GAGE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144212.1	NM_001098407		8	29						8	29	---	---	---	---	TAT	49208296	-	TAT	49208295	7	5	27	1	0	1	1	0	0	0	0	0	6190	668	24	0	236	0	GAGE2A	23	49208295	In_Frame_Ins	INS	-	TCGA-BJ-A2N8-01A-11D-A18F-08		49208295	106062265	16	735											
LPAR4	2846	broad.mit.edu	37	chrX	78010703	78010703	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgacaccctctgcaagAtctctggaactgcattcctt	8	12	2	2			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chrX:78010703A>G	ENST00000435339.3	+	2	723	c.337A>G	c.(337-339)Atc>Gtc	p.I113V		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	113					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						CCTCTGCAAGATCTCTGGAAC	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.(337-339)Atc>Gtc		lysophosphatidic acid receptor 4							170	140	150					X																	78010703		2203	4299	6502	SO:0001583	missense	2846					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78010703A>G	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.337A>G	X.37:g.78010703A>G	ENSP00000408205:p.Ile113Val					LPAR4_ENST00000373301.2_Missense_Mutation_p.I113V	p.I113V	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN			2	742	+			113					B2RAC7|O15132|Q502U9|Q6NSP5	Missense_Mutation	SNP	ENST00000435339.3	37	c.337A>G	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	A	6.541	0.468165	0.12461	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	T;T	0.37411	1.2;1.2	4.21	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.079753	0.52532	D	0.000072	T	0.27134	0.0665	L	0.28504	0.86	0.40862	D	0.983846	B	0.13594	0.008	B	0.20577	0.03	T	0.07927	-1.0747	10	0.39692	T	0.17	.	11.3846	0.49778	1.0:0.0:0.0:0.0	.	113	Q99677	LPAR4_HUMAN	V	113	ENSP00000408205:I113V;ENSP00000362398:I113V	ENSP00000362398:I113V	I	+	1	0	LPAR4	77897359	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.576000	0.60915	1.561000	0.49584	0.345000	0.21793	ATC		0.428	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		4	148	0	0	0	0.000602214	0	4	148					G	78010703	A	G	78010703	3	3	27	1	0	0	0	0	1	0	0	0	8907	333	12	3	339	3	LPAR4	23	78010703	Missense_Mutation	SNP	A	TCGA-BJ-A2N8-01A-11D-A18F-08	28802408	78010703	77259857	17	736											
NGFRAP1	27018	broad.mit.edu	37	chrX	102632596	102632596	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aataggcagatcaatgatggGatgggtggagatggagatga	17	2	1	5			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chrX:102632596G>C	ENST00000372645.3	+	3	504	c.177G>C	c.(175-177)ggG>ggC	p.G59G	NGFRAP1_ENST00000299872.7_Silent_p.G59G|NGFRAP1_ENST00000361298.4_Silent_p.G49G|NGFRAP1_ENST00000372635.1_Silent_p.G59G|NGFRAP1_ENST00000372634.1_Silent_p.G49G			Q00994	BEX3_HUMAN	nerve growth factor receptor (TNFRSF16) associated protein 1	59					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|metal ion binding (GO:0046872)	p.G59A(1)|p.G59G(1)		NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						TCAATGATGGGATGGGTGGAG	0.502																																						ENST00000361298.4																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.G59A(1)|p.G59G(1)	lung(2)	NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						c.(145-147)ggG>ggC		nerve growth factor receptor (TNFRSF16) associated protein 1							191	181	184					X																	102632596		2203	4300	6503	SO:0001819	synonymous_variant	27018				apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway	cytosol|nucleus	caspase regulator activity|metal ion binding	g.chrX:102632596G>C	AF187064	CCDS14508.1, CCDS14509.1	Xq22.2	2014-03-21			ENSG00000166681	ENSG00000166681			13388	protein-coding gene	gene with protein product	"brain expressed, X-linked 3"	300361				10764727, 16221301, 2171551	Standard	NM_206915		Approved	BEX3, HGR74, Bex, NADE, DXS6984E	uc004ekj.1	Q00994	OTTHUMG00000022099	ENST00000372645.3:c.177G>C	X.37:g.102632596G>C						NGFRAP1_ENST00000372634.1_Silent_p.G49G|NGFRAP1_ENST00000372645.3_Silent_p.G59G|NGFRAP1_ENST00000299872.7_Silent_p.G59G|NGFRAP1_ENST00000372635.1_Silent_p.G59G	p.G49G	NM_206915.1|NM_206917.1	NP_996798.1|NP_996800.1	Q00994	BEX3_HUMAN			3	512	+			59					B2RD17|D3DXA3|Q5JQT4|Q5JQT5	Silent	SNP	ENST00000372645.3	37	c.147G>C	CCDS14508.1																																																																																				0.502	NGFRAP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057709.1	NM_014380		10	243	0	0	0	0.000673444	0	10	243					C	102632596	G	C	102632596	2	2	27	1	0	0	0	0	0	0	0	1	10397	1161	41	4		4	NGFRAP1	23	102632596	Silent	SNP	G	TCGA-BJ-A2N8-01A-11D-A18F-08	24621893	102632596	52637964	18	737											
KLHL13	90293	broad.mit.edu	37	chrX	117053625	117053625	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaataattttccttagaccGactttgctcacaccatgaag	5	11	2	2	rs75572880		TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chrX:117053625G>A	ENST00000262820.3	-	4	1338	c.429C>T	c.(427-429)gtC>gtT	p.V143V	KLHL13_ENST00000371878.1_Silent_p.V92V|KLHL13_ENST00000541812.1_Silent_p.V127V|KLHL13_ENST00000371876.1_Silent_p.V92V|KLHL13_ENST00000540167.1_Silent_p.V127V|KLHL13_ENST00000545703.1_Silent_p.V101V|KLHL13_ENST00000539496.1_Silent_p.V146V|KLHL13_ENST00000469946.1_Silent_p.V92V|KLHL13_ENST00000371882.1_Silent_p.V92V	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	143	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TCCTTAGACCGACTTTGCTCA	0.343																																						ENST00000371876.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(274-276)gtC>gtT		kelch-like family member 13							67	68	67					X																	117053625		2203	4300	6503	SO:0001819	synonymous_variant	90293				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		g.chrX:117053625G>A	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"Kelch-like", "BTB/POZ domain containing"	22931	protein-coding gene	gene with protein product		300655	"BTB and kelch domain containing 2, KIAA1309", "kelch-like 13 (Drosophila)"	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.429C>T	X.37:g.117053625G>A						KLHL13_ENST00000545703.1_Silent_p.V101V|KLHL13_ENST00000541812.1_Silent_p.V127V|KLHL13_ENST00000371878.1_Silent_p.V92V|KLHL13_ENST00000371882.1_Silent_p.V92V|KLHL13_ENST00000262820.3_Silent_p.V143V|KLHL13_ENST00000539496.1_Silent_p.V146V|KLHL13_ENST00000540167.1_Silent_p.V127V|KLHL13_ENST00000469946.1_Silent_p.V92V	p.V92V			Q9P2N7	KLH13_HUMAN			3	2697	-			143			BTB.		B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Silent	SNP	ENST00000262820.3	37	c.276C>T	CCDS14571.1																																																																																				0.343	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495		4	78	0	0	0	0.00116845	0	4	78					A	117053625	G	A	117053625	2	1	27	1	0	0	0	0	0	0	0	1	8369	1045	37	1		1	KLHL13	23	117053625	Silent	SNP	G	TCGA-BJ-A2N8-01A-11D-A18F-08	14421029	117053625	38216935	19	738											
DOCK11	139818	broad.mit.edu	37	chrX	117815662	117815662	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctattgtgatataggtcaaTgctggtccattagcatatgc	9	7	2	1			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chrX:117815662T>C	ENST00000276202.7	+	51	5931	c.5868T>C	c.(5866-5868)aaT>aaC	p.N1956N	DOCK11_ENST00000276204.6_Silent_p.N1956N	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1956	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TATAGGTCAATGCTGGTCCAT	0.338																																						ENST00000276204.6																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(5866-5868)aaT>aaC		dedicator of cytokinesis 11							136	124	128					X																	117815662		2203	4300	6503	SO:0001819	synonymous_variant	139818				blood coagulation	cytosol	GTP binding	g.chrX:117815662T>C	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.5868T>C	X.37:g.117815662T>C						DOCK11_ENST00000276202.7_Silent_p.N1956N	p.N1956N			Q5JSL3	DOC11_HUMAN			51	5942	+			1956			DHR-2.		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Silent	SNP	ENST00000276202.7	37	c.5868T>C	CCDS35373.1																																																																																				0.338	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		21	106	0	0	0	0.00278032	0	21	106					C	117815662	T	C	117815662	2	2	27	1	0	0	0	0	0	0	0	1	4686	1461	51	3		3	DOCK11	23	117815662	Silent	SNP	T	TCGA-BJ-A2N8-01A-11D-A18F-08	762037	117815662	37454898	20	739											
SLAMF1	6504	broad.mit.edu	37	chr1	160607074	160607074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctccttcctgctttcccGtatccccagggtgagattct	7	15	1	1	rs374126308		TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr1:160607074G>A	ENST00000302035.6	-	2	671	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W	SLAMF1_ENST00000235739.5_Missense_Mutation_p.R108W|SLAMF1_ENST00000538290.1_Missense_Mutation_p.R108W|SLAMF1_ENST00000355199.3_Missense_Mutation_p.R108W	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	108	Ig-like V-type.				lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CTGCTTTCCCGTATCCCCAGG	0.468																																						ENST00000302035.6																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(322-324)Cgg>Tgg		signaling lymphocytic activation molecule family member 1		G	TRP/ARG	0,4406		0,0,2203	127	123	124		322	1.2	0.0	1		124	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLAMF1	NM_003037.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	108/336	160607074	1,13005	2203	4300	6503	SO:0001583	missense	6504				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity	g.chr1:160607074G>A	U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10903	protein-coding gene	gene with protein product		603492	"signaling lymphocytic activation molecule"	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.322C>T	1.37:g.160607074G>A	ENSP00000306190:p.Arg108Trp					SLAMF1_ENST00000235739.5_Missense_Mutation_p.R108W|SLAMF1_ENST00000355199.3_Missense_Mutation_p.R108W|SLAMF1_ENST00000538290.1_Missense_Mutation_p.R108W|SLAMF1_ENST00000494463.1_5'UTR	p.R108W	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		2	671	-	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		108					Q5W172|Q9HBE8	Missense_Mutation	SNP	ENST00000302035.6	37	c.322C>T	CCDS1207.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.317495	0.23908	0.0	1.16E-4	ENSG00000117090	ENST00000302035;ENST00000235739;ENST00000392208;ENST00000538290;ENST00000355199	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	4.19	1.19	0.21007	Signaling lymphocytic activation molecule, N-terminal (2);	1.152020	0.06391	N	0.717075	T	0.23846	0.0577	N	0.22421	0.69	0.09310	N	1	D;D	0.71674	0.994;0.998	P;P	0.51615	0.675;0.615	T	0.11916	-1.0568	10	0.52906	T	0.07	-0.043	5.5763	0.17225	0.3728:0.0:0.6272:0.0	.	108;108	B4E2E4;Q13291	.;SLAF1_HUMAN	W	108	ENSP00000306190:R108W;ENSP00000235739:R108W;ENSP00000438406:R108W;ENSP00000347333:R108W	ENSP00000235739:R108W	R	-	1	2	SLAMF1	158873698	0.882000	0.30256	0.004000	0.12327	0.023000	0.10783	1.244000	0.32778	0.270000	0.21984	0.491000	0.48974	CGG		0.468	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060454.1			4	72	0	0	0	1	0	4	72					A	160607074	G	A	160607074	3	1	28	1	0	0	0	0	1	0	0	0	14367	1144	40	1	709	1	SLAMF1	1	160607074	Missense_Mutation	SNP	G	TCGA-BJ-A2N9-01A-11D-A18F-08		160607074	88643547	1	740											
RFWD2	64326	broad.mit.edu	37	chr1	176054931	176054931	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgagatacgagacatcctTgtagaaaagtaacactgctc	8	10	0	3			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr1:176054931T>C	ENST00000367669.3	-	10	1636	c.1122A>G	c.(1120-1122)acA>acG	p.T374T	RFWD2_ENST00000308769.8_Silent_p.T350T	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	374					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GAGACATCCTTGTAGAAAAGT	0.348																																					Ovarian(134;1413 1765 5706 35534 51541)	ENST00000367669.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1120-1122)acA>acG		ring finger and WD repeat domain 2, E3 ubiquitin protein ligase							103	94	97					1																	176054931		2203	4300	6503	SO:0001819	synonymous_variant	64326				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:176054931T>C	AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"WD repeat domain containing", "RING-type (C3HC4) zinc fingers"	17440	protein-coding gene	gene with protein product		608067	"ring finger and WD repeat domain 2"			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.1122A>G	1.37:g.176054931T>C						RFWD2_ENST00000308769.8_Silent_p.T350T	p.T374T	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN			10	1636	-			374					E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Silent	SNP	ENST00000367669.3	37	c.1122A>G	CCDS30944.1	.	.	.	.	.	.	.	.	.	.	T	8.957	0.969702	0.18659	.	.	ENSG00000143207	ENST00000459744	.	.	.	5.28	4.15	0.48705	.	.	.	.	.	T	0.56093	0.1962	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51934	-0.8642	4	.	.	.	-9.6619	6.8308	0.23909	0.0:0.0816:0.152:0.7663	.	.	.	.	R	94	.	.	Q	-	2	0	RFWD2	174321554	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.198000	0.51035	0.956000	0.37904	0.383000	0.25322	CAA		0.348	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457		3	86	0	0	0	1	0	3	86					C	176054931	T	C	176054931	2	2	28	1	0	0	0	0	0	0	0	1	13260	1799	63	3		3	RFWD2	1	176054931	Silent	SNP	T	TCGA-BJ-A2N9-01A-11D-A18F-08	15447857	176054931	73195690	2	741											
ALAS1	211	broad.mit.edu	37	chr3	52246392	52246392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagagctcctacggattgCccccacccctcaccacacac	6	19	1	2			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr3:52246392C>T	ENST00000394965.2	+	11	2078	c.1718C>T	c.(1717-1719)gCc>gTc	p.A573V	ALAS1_ENST00000310271.2_Missense_Mutation_p.A573V|ALAS1_ENST00000469224.1_Missense_Mutation_p.A573V|ALAS1_ENST00000484952.1_Missense_Mutation_p.A573V	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	573					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	CTACGGATTGCCCCCACCCCT	0.517																																						ENST00000394965.2																			0				endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23						c.(1717-1719)gCc>gTc		aminolevulinate, delta-, synthase 1	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						237	256	250					3																	52246392		2203	4300	6503	SO:0001583	missense	211				heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr3:52246392C>T	X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.1718C>T	3.37:g.52246392C>T	ENSP00000378416:p.Ala573Val					ALAS1_ENST00000310271.2_Missense_Mutation_p.A573V|ALAS1_ENST00000484952.1_Missense_Mutation_p.A573V|ALAS1_ENST00000469224.1_Missense_Mutation_p.A573V	p.A573V	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	11	2078	+			573						Missense_Mutation	SNP	ENST00000394965.2	37	c.1718C>T	CCDS2847.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.17|17.17	3.320140|3.320140	0.60634|0.60634	.|.	.|.	ENSG00000023330|ENSG00000023330	ENST00000469224;ENST00000394965;ENST00000310271;ENST00000484952|ENST00000493402	D;D;D;D|.	0.90732|.	-2.72;-2.72;-2.72;-2.72|.	5.22|5.22	4.35|4.35	0.52113|0.52113	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.049537|.	0.85682|.	D|.	0.000000|.	T|T	0.69780|0.69780	0.3149|0.3149	L|L	0.58969|0.58969	1.84|1.84	0.80722|0.80722	D|D	1|1	D;D|.	0.64830|.	0.994;0.994|.	P;P|.	0.59012|.	0.85;0.85|.	T|T	0.68754|0.68754	-0.5325|-0.5325	10|5	0.66056|.	D|.	0.02|.	-24.3309|-24.3309	15.9851|15.9851	0.80144|0.80144	0.0:0.865:0.135:0.0|0.0:0.865:0.135:0.0	.|.	590;573|.	B4DVA0;P13196|.	.;HEM1_HUMAN|.	V|S	573|170	ENSP00000417719:A573V;ENSP00000378416:A573V;ENSP00000309259:A573V;ENSP00000418779:A573V|.	ENSP00000309259:A573V|.	A|P	+|+	2|1	0|0	ALAS1|ALAS1	52221432|52221432	1.000000|1.000000	0.71417|0.71417	0.476000|0.476000	0.27291|0.27291	0.056000|0.056000	0.15407|0.15407	6.083000|6.083000	0.71326|0.71326	1.202000|1.202000	0.43218|0.43218	-0.127000|-0.127000	0.14921|0.14921	GCC|CCC		0.517	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1			5	329	0	0	0	1	0	5	329					T	52246392	C	T	52246392	3	4	28	1	0	0	0	0	1	0	0	0	484	739	26	2	1752	2	ALAS1	3	52246392	Missense_Mutation	SNP	C	TCGA-BJ-A2N9-01A-11D-A18F-08		52246392	145776038	3	742											
HCLS1	3059	broad.mit.edu	37	chr3	121351261	121351261	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttcatcctcctgctcatgCctgtccatctcctcaacgtc	6	17	4	0			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr3:121351261C>T	ENST00000314583.3	-	12	1249	c.1158G>A	c.(1156-1158)agG>agA	p.R386R	HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Silent_p.R349R	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	386					actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CCTGCTCATGCCTGTCCATCT	0.562																																						ENST00000314583.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1156-1158)agG>agA		hematopoietic cell-specific Lyn substrate 1							248	232	238					3																	121351261		2203	4300	6503	SO:0001819	synonymous_variant	3059				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:121351261C>T		CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"cortactin-like"	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.1158G>A	3.37:g.121351261C>T						HCLS1_ENST00000428394.2_Silent_p.R349R|HCLS1_ENST00000473883.1_5'UTR	p.R386R	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN		GBM - Glioblastoma multiforme(114;0.0912)	12	1249	-			386					B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Silent	SNP	ENST00000314583.3	37	c.1158G>A	CCDS3003.1																																																																																				0.562	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1	NM_005335		4	201	0	0	0	1	0	4	201					T	121351261	C	T	121351261	2	4	28	1	0	0	0	0	0	0	0	1	6995	738	26	2		2	HCLS1	3	121351261	Silent	SNP	C	TCGA-BJ-A2N9-01A-11D-A18F-08	69104869	121351261	76671169	4	743											
SPOCK3	50859	broad.mit.edu	37	chr4	167810357	167810357	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccttcacatttgactgagatCtgttttcctaagacacatgc	6	11	2	3			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr4:167810357C>A	ENST00000357154.3	-	7	659	c.522G>T	c.(520-522)caG>caT	p.Q174H	SPOCK3_ENST00000510741.1_Missense_Mutation_p.Q171H|SPOCK3_ENST00000511531.1_Missense_Mutation_p.Q174H|SPOCK3_ENST00000512681.1_Missense_Mutation_p.Q76H|SPOCK3_ENST00000357545.4_Missense_Mutation_p.Q171H|SPOCK3_ENST00000504953.1_Missense_Mutation_p.Q171H|SPOCK3_ENST00000506886.1_Missense_Mutation_p.Q174H|SPOCK3_ENST00000502330.1_Missense_Mutation_p.Q174H|SPOCK3_ENST00000421836.2_Missense_Mutation_p.Q123H|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000534949.1_Missense_Mutation_p.Q78H|SPOCK3_ENST00000541354.1_Missense_Mutation_p.Q54H|SPOCK3_ENST00000541637.1_Missense_Mutation_p.Q76H|SPOCK3_ENST00000535728.1_Missense_Mutation_p.Q82H|SPOCK3_ENST00000511269.1_Missense_Mutation_p.Q171H|SPOCK3_ENST00000512648.1_Missense_Mutation_p.Q171H	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	174	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		TGACTGAGATCTGTTTTCCTA	0.328																																						ENST00000357154.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38						c.(520-522)caG>caT		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3							128	121	123					4																	167810357		2203	4300	6503	SO:0001583	missense	50859				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	g.chr4:167810357C>A	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.522G>T	4.37:g.167810357C>A	ENSP00000349677:p.Gln174His					SPOCK3_ENST00000506886.1_Missense_Mutation_p.Q174H|SPOCK3_ENST00000421836.2_Missense_Mutation_p.Q123H|SPOCK3_ENST00000504953.1_Missense_Mutation_p.Q171H|SPOCK3_ENST00000510741.1_Missense_Mutation_p.Q171H|SPOCK3_ENST00000541637.1_Missense_Mutation_p.Q76H|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000541354.1_Missense_Mutation_p.Q54H|SPOCK3_ENST00000511531.1_Missense_Mutation_p.Q174H|SPOCK3_ENST00000535728.1_Missense_Mutation_p.Q82H|SPOCK3_ENST00000502330.1_Missense_Mutation_p.Q174H|SPOCK3_ENST00000534949.1_Missense_Mutation_p.Q78H|SPOCK3_ENST00000357545.4_Missense_Mutation_p.Q171H|SPOCK3_ENST00000512648.1_Missense_Mutation_p.Q171H|SPOCK3_ENST00000511269.1_Missense_Mutation_p.Q171H|SPOCK3_ENST00000512681.1_Missense_Mutation_p.Q76H	p.Q174H	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN		GBM - Glioblastoma multiforme(119;0.02)	7	659	-	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	174			Kazal-like.		B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Missense_Mutation	SNP	ENST00000357154.3	37	c.522G>T	CCDS54817.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.096084	0.36952	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000541354;ENST00000512681;ENST00000511269;ENST00000535728;ENST00000421836;ENST00000541637;ENST00000534949;ENST00000512648	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.44881	3.58;3.58;3.58;3.58;3.58;3.58;3.58;3.58;0.91;3.58;3.58;3.58;0.91;3.58;3.58	5.17	3.35	0.38373	Proteinase inhibitor I1, Kazal (1);EF-hand-like domain (1);Protease inhibitor, Kazal-type (1);	0.198219	0.44688	N	0.000421	T	0.50429	0.1615	L	0.45422	1.42	0.41111	D	0.985743	D;D;D;D;D;D;D;D	0.76494	0.997;0.999;0.997;0.999;0.998;0.998;0.998;0.998	P;D;D;D;D;D;D;D	0.85130	0.897;0.969;0.968;0.997;0.996;0.969;0.994;0.996	T	0.44711	-0.9310	10	0.45353	T	0.12	-14.5186	6.7286	0.23371	0.1413:0.6877:0.0:0.171	.	76;78;123;183;171;174;171;174	B4DGK5;F5H099;B4DHB4;B4DFW5;E7EP61;Q9BQ16-2;Q9BQ16-1;Q9BQ16	.;.;.;.;.;.;.;TICN3_HUMAN	H	174;171;171;174;174;174;171;54;76;171;82;123;76;78;171	ENSP00000349677:Q174H;ENSP00000350153:Q171H;ENSP00000425570:Q171H;ENSP00000420920:Q174H;ENSP00000423421:Q174H;ENSP00000423606:Q174H;ENSP00000426716:Q171H;ENSP00000444789:Q54H;ENSP00000426318:Q76H;ENSP00000425502:Q171H;ENSP00000441396:Q82H;ENSP00000411344:Q123H;ENSP00000445430:Q76H;ENSP00000438142:Q78H;ENSP00000426177:Q171H	ENSP00000349677:Q174H	Q	-	3	2	SPOCK3	168046932	1.000000	0.71417	0.798000	0.32154	0.237000	0.25408	0.795000	0.26972	0.599000	0.29845	0.650000	0.86243	CAG		0.328	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1			22	33	1	0	5.26018e-13	1	6.68185e-13	22	33					A	167810357	C	A	167810357	3	1	28	1	0	0	0	0	1	0	0	0	15080	912	32	4	812	4	SPOCK3	4	167810357	Missense_Mutation	SNP	C	TCGA-BJ-A2N9-01A-11D-A18F-08		167810357	23343919	5	744											
HSPA9	3313	broad.mit.edu	37	chr5	137902369	137902369	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcagcagcttcccgtaccctCtgaagtgccatgttgtcttt	8	13	3	1			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr5:137902369C>A	ENST00000297185.3	-	9	1043	c.918G>T	c.(916-918)caG>caT	p.Q306H	HSPA9_ENST00000501917.2_5'UTR	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	306					cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCCGTACCCTCTGAAGTGCCA	0.438																																						ENST00000297185.3																			0				breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28						c.(916-918)caG>caT		heat shock 70kDa protein 9 (mortalin)							157	145	149					5																	137902369		2203	4300	6503	SO:0001583	missense	3313				anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding	g.chr5:137902369C>A	L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"Heat shock proteins / HSP70"	5244	protein-coding gene	gene with protein product		600548	"heat shock 70kDa protein 9B (mortalin-2)"	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.918G>T	5.37:g.137902369C>A	ENSP00000297185:p.Gln306His					HSPA9_ENST00000501917.2_5'UTR	p.Q306H	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		9	1043	-			306					B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Missense_Mutation	SNP	ENST00000297185.3	37	c.918G>T	CCDS4208.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717351	0.68844	.	.	ENSG00000113013	ENST00000297185;ENST00000541333;ENST00000540484	T	0.01133	5.29	4.98	1.23	0.21249	.	0.053636	0.85682	D	0.000000	T	0.11367	0.0277	H	0.98525	4.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.01010	-1.1482	10	0.87932	D	0	-9.154	9.57	0.39422	0.0:0.7097:0.0:0.2903	.	237;306	B7Z1V7;P38646	.;GRP75_HUMAN	H	306;259;292	ENSP00000297185:Q306H	ENSP00000297185:Q306H	Q	-	3	2	HSPA9	137930268	0.992000	0.36948	0.998000	0.56505	0.981000	0.71138	0.437000	0.21543	0.003000	0.14656	-0.229000	0.12294	CAG		0.438	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251285.1	NM_004134		4	192	1	0	1	1	1	4	192					A	137902369	C	A	137902369	3	1	28	1	0	0	0	0	1	0	0	0	7417	912	32	4	1157	4	HSPA9	5	137902369	Missense_Mutation	SNP	C	TCGA-BJ-A2N9-01A-11D-A18F-08		137902369	43012891	6	745											
CYP21A2	1590	broad.mit.edu	37	chr6	31975113	31975113	+	5'Flank	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccaaggggtggcgcagccgaGcatggaagagggctctggac	18	10	1	1	rs62402680	byFrequency	TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr6:31975113G>C	ENST00000594256.1	-	0	0				CYP21A1P_ENST00000342991.6_RNA																							GCGCAGCCGAGCATGGAAGAG	0.627													G|||	1072	0.214058	0.3593	0.1671	5008	,	,		16916	0.1032		0.1481	False		,,,				2504	0.2331					ENST00000342991.6																			0																																																	SO:0001631	upstream_gene_variant	0						electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr6:31975113G>C																													6.37:g.31975113G>C	Exception_encountered							NR_040090.1		Q5ST44	Q5ST44_HUMAN			0	1236	+									RNA	SNP	ENST00000594256.1	37																																																																																						0.627	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				3	47	0	0	0	1	0	3	47					C	31975113	G	C	31975113	1	2	28	0	1	0	0	0	0	0	0	0	4153	971	34	4		4	CYP21A2	6	31975113	5'Flank	SNP	G	TCGA-BJ-A2N9-01A-11D-A18F-08		31975113	139139954	7	746											
FILIP1	27145	broad.mit.edu	37	chr6	76022780	76022780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttgttatctccaaagtcGcagtgctgttctcgtggtct	11	10	3	0			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr6:76022780G>A	ENST00000237172.7	-	5	3098	c.2768C>T	c.(2767-2769)gCg>gTg	p.A923V	FILIP1_ENST00000370020.1_Missense_Mutation_p.A824V|FILIP1_ENST00000393004.2_Missense_Mutation_p.A923V|FILIP1_ENST00000498523.1_5'UTR	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	923										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CTCCAAAGTCGCAGTGCTGTT	0.473																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(2767-2769)gCg>gTg		filamin A interacting protein 1							145	139	141					6																	76022780		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76022780G>A	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2768C>T	6.37:g.76022780G>A	ENSP00000237172:p.Ala923Val					FILIP1_ENST00000370020.1_Missense_Mutation_p.A824V|FILIP1_ENST00000237172.7_Missense_Mutation_p.A923V|FILIP1_ENST00000498523.1_5'UTR	p.A923V			Q7Z7B0	FLIP1_HUMAN			5	2989	-			923					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.2768C>T	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802427	0.90538	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.25414	1.81;1.8;1.81	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.974;0.995;0.998	T	0.31668	-0.9935	10	0.66056	D	0.02	-21.1339	20.2723	0.98479	0.0:0.0:1.0:0.0	.	923;923;923	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	V	923;923;824	ENSP00000376728:A923V;ENSP00000237172:A923V;ENSP00000359037:A824V	ENSP00000237172:A923V	A	-	2	0	FILIP1	76079500	1.000000	0.71417	0.931000	0.37212	0.976000	0.68499	7.874000	0.87199	2.793000	0.96121	0.563000	0.77884	GCG		0.473	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		24	76	0	0	0	1	0	24	76					A	76022780	G	A	76022780	3	1	28	1	0	0	0	0	1	0	0	0	5894	1087	38	1	881	1	FILIP1	6	76022780	Missense_Mutation	SNP	G	TCGA-BJ-A2N9-01A-11D-A18F-08	44047667	76022780	95092287	8	747											
UBR5	51366	broad.mit.edu	37	chr8	103297922	103297922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcgttgctagcttccaaaGcagctgctgcagctgcagca	12	12	0	0			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr8:103297922G>A	ENST00000520539.1	-	39	5909	c.5303C>T	c.(5302-5304)gCt>gTt	p.A1768V	UBR5_ENST00000519528.1_5'Flank|UBR5_ENST00000521922.1_Missense_Mutation_p.A1762V|UBR5_ENST00000220959.4_Missense_Mutation_p.A1768V	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1768	Poly-Ala.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AGCTTCCAAAGCAGCTGCTGC	0.463																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(5302-5304)gCt>gTt		ubiquitin protein ligase E3 component n-recognin 5							72	68	70					8																	103297922		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103297922G>A	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	16806	protein-coding gene	gene with protein product		608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.5303C>T	8.37:g.103297922G>A	ENSP00000429084:p.Ala1768Val					UBR5_ENST00000521922.1_Missense_Mutation_p.A1762V|UBR5_ENST00000220959.4_Missense_Mutation_p.A1768V	p.A1768V	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		39	5909	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		1768			Poly-Ala.		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.5303C>T	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174184	0.78452	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.47869	0.83;0.83;0.83	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.56352	0.1979	N	0.22421	0.69	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.68192	0.956;0.956	T	0.52726	-0.8537	10	0.33940	T	0.23	.	19.8316	0.96638	0.0:0.0:1.0:0.0	.	1762;1768	E7EMW7;O95071	.;UBR5_HUMAN	V	1768;1768;1762	ENSP00000429084:A1768V;ENSP00000220959:A1768V;ENSP00000427819:A1762V	ENSP00000220959:A1768V	A	-	2	0	UBR5	103367098	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.687000	0.91594	0.563000	0.77884	GCT		0.463	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		10	49	0	0	0	1	0	10	49					A	103297922	G	A	103297922	3	1	28	1	0	0	0	0	1	0	0	0	16902	971	34	2	3180	2	UBR5	8	103297922	Missense_Mutation	SNP	G	TCGA-BJ-A2N9-01A-11D-A18F-08		103297922	43066100	9	748											
PTPRD	5789	broad.mit.edu	37	chr9	8499764	8499764	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgctgtttattgggcacGggtgagcgccatgagacttt	13	9	0	2			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr9:8499764G>A	ENST00000381196.4	-	22	2748	c.2205C>T	c.(2203-2205)ccC>ccT	p.P735P	PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000540109.1_Silent_p.P735P|PTPRD_ENST00000356435.5_Silent_p.P735P|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Silent_p.P722P|PTPRD_ENST00000358503.5_Silent_p.P722P|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	735	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.P735P(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TATTGGGCACGGGTGAGCGCC	0.483										TSP Lung(15;0.13)																												ENST00000381196.4																			1	Substitution - coding silent(1)	p.P735P(1)	lung(1)	NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(2203-2205)ccC>ccT		protein tyrosine phosphatase, receptor type, D							172	150	157					9																	8499764		2203	4300	6503	SO:0001819	synonymous_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8499764G>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2205C>T	9.37:g.8499764G>A		TSP Lung(15;0.13)				PTPRD_ENST00000540109.1_Silent_p.P735P|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000358503.5_Silent_p.P722P|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Silent_p.P735P|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000360074.4_Silent_p.P722P|PTPRD_ENST00000397617.3_Intron	p.P735P	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	22	2748	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	735			Fibronectin type-III 5.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	c.2205C>T	CCDS43786.1																																																																																				0.483	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			3	89	0	0	0	1	0	3	89					A	8499764	G	A	8499764	2	1	28	1	0	0	0	0	0	0	0	1	12799	1103	39	1		1	PTPRD	9	8499764	Silent	SNP	G	TCGA-BJ-A2N9-01A-11D-A18F-08		8499764	132713667	10	749											
IDE	3416	broad.mit.edu	37	chr10	94214212	94214212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggaatcttcagagttttgCagccatgaagttaatatgtg	12	5	2	2			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr10:94214212C>T	ENST00000265986.6	-	25	3105	c.3049G>A	c.(3049-3051)Gca>Aca	p.A1017T	IDE_ENST00000496903.1_5'UTR|IDE_ENST00000371581.5_Missense_Mutation_p.A462T	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	1017					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"	CAGAGTTTTGCAGCCATGAAG	0.433																																						ENST00000265986.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33						c.(3049-3051)Gca>Aca		insulin-degrading enzyme	Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						151	151	151					10																	94214212		2203	4300	6503	SO:0001583	missense	3416				beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding	g.chr10:94214212C>T	M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"insulysin"	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.3049G>A	10.37:g.94214212C>T	ENSP00000265986:p.Ala1017Thr					IDE_ENST00000371581.5_Missense_Mutation_p.A462T|IDE_ENST00000496903.1_5'UTR	p.A1017T	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN			25	3105	-			1017					B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	ENST00000265986.6	37	c.3049G>A	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955730	0.73902	.	.	ENSG00000119912	ENST00000265986;ENST00000371581	T;T	0.34859	1.34;1.35	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.40839	0.1133	L	0.47716	1.5	0.58432	D	0.999999	B;D	0.54207	0.292;0.965	B;P	0.46299	0.038;0.511	T	0.04495	-1.0947	10	0.24483	T	0.36	-13.0314	20.2789	0.98501	0.0:1.0:0.0:0.0	.	1017;462	P14735;B3KSB8	IDE_HUMAN;.	T	1017;462	ENSP00000265986:A1017T;ENSP00000360637:A462T	ENSP00000265986:A1017T	A	-	1	0	IDE	94204192	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.475000	0.66787	2.788000	0.95919	0.650000	0.86243	GCA		0.433	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		4	129	0	0	0	1	0	4	129					T	94214212	C	T	94214212	3	4	28	1	0	0	0	0	1	0	0	0	7493	710	25	2	14	2	IDE	10	94214212	Missense_Mutation	SNP	C	TCGA-BJ-A2N9-01A-11D-A18F-08		94214212	41320535	11	750											
SLC43A3	29015	broad.mit.edu	37	chr11	57175307	57175307	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctttccaagtacggcattcCcgatataccagaaaggggtg	10	10	1	1			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr11:57175307C>A	ENST00000395123.2	-	14	1738	c.1434G>T	c.(1432-1434)cgG>cgT	p.R478R	RP11-872D17.8_ENST00000529411.1_Intron|SLC43A3_ENST00000533524.1_Silent_p.R491R|SLC43A3_ENST00000395124.1_Silent_p.R478R|SLC43A3_ENST00000529554.1_Silent_p.R478R|SLC43A3_ENST00000352187.1_Silent_p.R478R	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	478					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TACGGCATTCCCGATATACCA	0.468																																						ENST00000395123.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(1432-1434)cgG>cgT		solute carrier family 43, member 3							123	103	110					11																	57175307		2201	4296	6497	SO:0001819	synonymous_variant	29015				transmembrane transport	integral to membrane		g.chr11:57175307C>A	AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"Solute carriers"	17466	protein-coding gene	gene with protein product	"likely ortholog of mouse embryonic epithelial gene 1"					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.1434G>T	11.37:g.57175307C>A						SLC43A3_ENST00000533524.1_Silent_p.R491R|SLC43A3_ENST00000352187.1_Silent_p.R478R|SLC43A3_ENST00000529554.1_Silent_p.R478R|RP11-872D17.8_ENST00000529411.1_Intron|SLC43A3_ENST00000395124.1_Silent_p.R478R	p.R478R	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN			14	1738	-			478					B4DNR8|E7EQD2|Q9NSS4	Silent	SNP	ENST00000395123.2	37	c.1434G>T	CCDS7956.1																																																																																				0.468	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611		3	53	1	0	1	1	1	3	53					A	57175307	C	A	57175307	2	1	28	1	0	0	0	0	0	0	0	1	14634	610	22	4		4	SLC43A3	11	57175307	Silent	SNP	C	TCGA-BJ-A2N9-01A-11D-A18F-08		57175307	77831209	12	751											
TCP11L2	255394	broad.mit.edu	37	chr12	106715426	106715426	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgggaaagctgtgtgctcccGtgcgagataatgatatcaga	13	7	1	3			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr12:106715426G>C	ENST00000299045.3	+	5	751	c.577G>C	c.(577-579)Gtg>Ctg	p.V193L	TCP11L2_ENST00000552690.1_3'UTR|TCP11L2_ENST00000547153.1_Missense_Mutation_p.V193L|TCP11L2_ENST00000546625.1_Missense_Mutation_p.V193L	NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	193										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						GTGTGCTCCCGTGCGAGATAA	0.493																																						ENST00000546625.1																			0				endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						c.(577-579)Gtg>Ctg		t-complex 11, testis-specific-like 2							173	156	162					12																	106715426		2203	4300	6503	SO:0001583	missense	255394							g.chr12:106715426G>C	BC033617	CCDS9104.1, CCDS66456.1	12q23.3	2014-08-12	2012-09-20		ENSG00000166046	ENSG00000166046			28627	protein-coding gene	gene with protein product			"t-complex 11 (mouse) like 2", "t-complex 11 (mouse)-like 2"				Standard	XM_005268769		Approved	MGC40368	uc001tln.3	Q8N4U5	OTTHUMG00000170087	ENST00000299045.3:c.577G>C	12.37:g.106715426G>C	ENSP00000299045:p.Val193Leu					TCP11L2_ENST00000552690.1_3'UTR|TCP11L2_ENST00000299045.3_Missense_Mutation_p.V193L|TCP11L2_ENST00000547153.1_Missense_Mutation_p.V193L	p.V193L			Q8N4U5	T11L2_HUMAN			5	736	+			193					B2RA65|G3V1Y9	Missense_Mutation	SNP	ENST00000299045.3	37	c.577G>C	CCDS9104.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.549194	0.65311	.	.	ENSG00000166046	ENST00000547153;ENST00000299045;ENST00000546625;ENST00000553098	T;T;T;T	0.12147	2.71;2.71;2.71;2.71	6.07	5.18	0.71444	.	0.297969	0.36234	N	0.002719	T	0.22513	0.0543	M	0.79805	2.47	0.23616	N	0.997285	P;P;B	0.46859	0.838;0.885;0.338	P;B;B	0.48063	0.565;0.429;0.058	T	0.16247	-1.0409	10	0.12430	T	0.62	-20.4283	10.2898	0.43588	0.2038:0.0:0.7962:0.0	.	193;193;193	Q8N4U5;G3V1Y9;G3V1Z2	T11L2_HUMAN;.;.	L	193	ENSP00000448952:V193L;ENSP00000299045:V193L;ENSP00000449123:V193L;ENSP00000448629:V193L	ENSP00000299045:V193L	V	+	1	0	TCP11L2	105239556	0.229000	0.23729	0.869000	0.34112	0.978000	0.69477	1.286000	0.33273	1.570000	0.49709	0.655000	0.94253	GTG		0.493	TCP11L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407206.1	NM_152772		3	82	0	0	0	1	0	3	82					C	106715426	G	C	106715426	3	2	28	1	0	0	0	0	1	0	0	0	15712	1145	40	4	591	4	TCP11L2	12	106715426	Missense_Mutation	SNP	G	TCGA-BJ-A2N9-01A-11D-A18F-08		106715426	27136469	13	752											
AHNAK2	113146	broad.mit.edu	37	chr14	105416584	105416584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggtgccctttgaagccgGctccctcgggaagggggccc	17	13	0	1			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr14:105416584G>A	ENST00000333244.5	-	7	5323	c.5204C>T	c.(5203-5205)gCc>gTc	p.A1735V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1735						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)			TTTGAAGCCGGCTCCCTCGGG	0.632																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(5203-5205)gCc>gTc		AHNAK nucleoprotein 2							85	97	93					14																	105416584		1813	4035	5848	SO:0001583	missense	113146					nucleus		g.chr14:105416584G>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.5204C>T	14.37:g.105416584G>A	ENSP00000353114:p.Ala1735Val					AHNAK2_ENST00000557457.1_Intron	p.A1735V	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	5323	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1735					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.5204C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	5.329	0.245997	0.10077	.	.	ENSG00000185567	ENST00000333244	T	0.00784	5.7	4.8	-1.57	0.08506	.	.	.	.	.	T	0.01254	0.0041	L	0.39514	1.22	0.09310	N	1	P	0.48350	0.909	P	0.60012	0.867	T	0.47249	-0.9132	9	0.13853	T	0.58	-8.5045	1.8315	0.03131	0.2507:0.4053:0.2113:0.1327	.	1735	Q8IVF2	AHNK2_HUMAN	V	1735	ENSP00000353114:A1735V	ENSP00000353114:A1735V	A	-	2	0	AHNAK2	104487629	.	.	0.000000	0.03702	0.004000	0.04260	.	.	0.090000	0.17273	0.505000	0.49811	GCC		0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		4	207	0	0	0	1	0	4	207					A	105416584	G	A	105416584	3	1	28	1	0	0	0	0	1	0	0	0	415	1203	42	2	12187	2	AHNAK2	14	105416584	Missense_Mutation	SNP	G	TCGA-BJ-A2N9-01A-11D-A18F-08		105416584	1932956	14	753											
ATP6V0C	527	broad.mit.edu	37	chr16	2569368	2569368	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggtggtggcagtcctcatcGccaactccctgaatgacgac	11	13	1	2			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr16:2569368G>T	ENST00000330398.4	+	2	463	c.229G>T	c.(229-231)Gcc>Tcc	p.A77S	ATP6V0C_ENST00000564973.1_Missense_Mutation_p.A34S|ATP6C_ENST00000569317.1_Intron|AMDHD2_ENST00000413459.3_5'Flank|RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.R372L|AMDHD2_ENST00000302956.4_5'Flank|ATP6V0C_ENST00000568562.1_Missense_Mutation_p.R59L|AMDHD2_ENST00000293971.6_5'Flank|ATP6V0C_ENST00000565223.1_Missense_Mutation_p.A34S	NM_001198569.1|NM_001694.3	NP_001185498.1|NP_001685.1	P27449	VATL_HUMAN	ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c	77					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|lung(1)|ovary(1)	3		Ovarian(90;0.17)				AGTCCTCATCGCCAACTCCCT	0.612																																						ENST00000564543.1																			0											c.(1114-1116)cGc>cTc									91	69	76					16																	2569368		2198	4300	6498	SO:0001583	missense	0							g.chr16:2569368G>T	M62762	CCDS10470.1	16p13.3	2010-04-21	2002-08-29	2002-05-10	ENSG00000185883	ENSG00000185883	3.6.3.14	"ATPases / V-type"	855	protein-coding gene	gene with protein product		108745	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) 16kD"	ATPL, ATP6C, ATP6L		1709739, 8250920	Standard	NM_001694		Approved	VATL, Vma3	uc021tav.1	P27449	OTTHUMG00000128865	ENST00000330398.4:c.229G>T	16.37:g.2569368G>T	ENSP00000329757:p.Ala77Ser					ATP6C_ENST00000569317.1_Intron|ATP6V0C_ENST00000568562.1_Missense_Mutation_p.R59L|ATP6V0C_ENST00000330398.4_Missense_Mutation_p.A77S|ATP6V0C_ENST00000564973.1_Missense_Mutation_p.A34S|ATP6V0C_ENST00000565223.1_Missense_Mutation_p.A34S	p.R372L							2	1232	+								Q6FH26	Missense_Mutation	SNP	ENST00000330398.4	37	c.1115G>T	CCDS10470.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262072	0.39995	.	.	ENSG00000185883	ENST00000330398	T	0.40225	1.04	4.85	3.9	0.45041	ATPase, F0/V0 complex, subunit C (2);	0.000000	0.85682	D	0.000000	T	0.23926	0.0579	N	0.12611	0.24	0.58432	D	0.999998	B	0.15719	0.014	B	0.22386	0.039	T	0.04522	-1.0945	10	0.13108	T	0.6	-3.3277	11.9352	0.52870	0.0854:0.0:0.9146:0.0	.	77	P27449	VATL_HUMAN	S	77	ENSP00000329757:A77S	ENSP00000329757:A77S	A	+	1	0	ATP6V0C	2509369	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	7.895000	0.87343	1.055000	0.40461	-0.265000	0.10407	GCC		0.612	ATP6V0C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250810.1	NM_001694		3	64	1	0	1	1	1	3	64					T	2569368	G	T	2569368	3	4	28	1	0	0	0	0	1	0	0	0	1172	1087	38	4	235	4	ATP6V0C	16	2569368	Missense_Mutation	SNP	G	TCGA-BJ-A2N9-01A-11D-A18F-08		2569368	87785385	15	754											
MYH1	4619	broad.mit.edu	37	chr17	10402290	10402290	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaatgacaagtggagcttaCctttatctcctcttcaagtt	7	9	3	2			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr17:10402290C>A	ENST00000226207.5	-	29	4079		c.e29+1		CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult						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						GTGGAGCTTACCTTTATCTCC	0.398																																						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.e29+1		myosin, heavy chain 1, skeletal muscle, adult							185	162	170					17																	10402290		2203	4300	6503	SO:0001630	splice_region_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10402290C>A		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.3984+1G>T	17.37:g.10402290C>A						CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA		NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			29	4079	-								Q14CA4|Q9Y622	Splice_Site	SNP	ENST00000226207.5	37		CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948968	0.73787	.	.	ENSG00000109061	ENST00000226207	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4571	0.94897	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH1	10343015	1.000000	0.71417	0.994000	0.49952	0.649000	0.38597	7.750000	0.85110	2.690000	0.91761	0.655000	0.94253	.		0.398	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	Intron	5	56	1	0	5.9392e-07	1	7.34585e-07	5	56					A	10402290	C	A	10402290	5	1	28	1	0	0	0	0	0	0	1	0	10029	521	18	4	1882	4	MYH1	17	10402290	Splice_Site	SNP	C	TCGA-BJ-A2N9-01A-11D-A18F-08		10402290	70792920	16	755											
LPIN3	64900	broad.mit.edu	37	chr20	39984584	39984584	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacgatgccccagacagcccTgtgatcctggagatcccctc	10	16	0	3			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr20:39984584T>C	ENST00000373257.3	+	14	1804	c.1713T>C	c.(1711-1713)ccT>ccC	p.P571P		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	571					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CAGACAGCCCTGTGATCCTGG	0.592																																						ENST00000373257.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1711-1713)ccT>ccC		lipin 3							338	254	283					20																	39984584		2203	4300	6503	SO:0001819	synonymous_variant	64900				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	g.chr20:39984584T>C	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"lipin 3-like"	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.1713T>C	20.37:g.39984584T>C							p.P571P	NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN			14	1804	+		Myeloproliferative disorder(115;0.000739)	571					B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Silent	SNP	ENST00000373257.3	37	c.1713T>C	CCDS33469.1	.	.	.	.	.	.	.	.	.	.	T	3.783	-0.045297	0.07452	.	.	ENSG00000132793	ENST00000445975	.	.	.	4.83	-3.91	0.04168	.	.	.	.	.	T	0.51210	0.1661	.	.	.	0.43421	D	0.995573	.	.	.	.	.	.	T	0.50030	-0.8875	4	.	.	.	-11.6615	8.351	0.32303	0.0:0.5085:0.2903:0.2012	.	.	.	.	P	61	.	.	L	+	2	0	LPIN3	39417998	0.000000	0.05858	0.986000	0.45419	0.382000	0.30200	-1.186000	0.03070	-0.588000	0.05882	-0.464000	0.05259	CTG		0.592	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		3	64	0	0	0	1	0	3	64					C	39984584	T	C	39984584	2	2	28	1	0	0	0	0	0	0	0	1	8920	1567	55	3		3	LPIN3	20	39984584	Silent	SNP	T	TCGA-BJ-A2N9-01A-11D-A18F-08		39984584	23040936	17	756											
PCNT	5116	broad.mit.edu	37	chr21	47783836	47783836	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgcgccctgcagctgatgCtggcccggagcaggtgggtt	16	12	0	1			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr21:47783836C>T	ENST00000359568.5	+	14	2703	c.2596C>T	c.(2596-2598)Ctg>Ttg	p.L866L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	866					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GCAGCTGATGCTGGCCCGGAG	0.677																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(2596-2598)Ctg>Ttg		pericentrin							38	44	42					21																	47783836		2180	4265	6445	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47783836C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.2596C>T	21.37:g.47783836C>T						PCNT_ENST00000480896.1_3'UTR	p.L866L	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			14	2703	+	Breast(49;0.112)		866					O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.2596C>T	CCDS33592.1																																																																																				0.677	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		3	91	0	0	0	1	0	3	91					T	47783836	C	T	47783836	2	4	28	1	0	0	0	0	0	0	0	1	11590	796	28	2		2	PCNT	21	47783836	Silent	SNP	C	TCGA-BJ-A2N9-01A-11D-A18F-08		47783836	346059	18	757											
ARVCF	421	broad.mit.edu	37	chr22	19960732	19960732	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcggacacgatttcgtggAtggtgttgagcaccgccacc	13	11	0	1			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr22:19960732A>G	ENST00000263207.3	-	14	2639	c.2348T>C	c.(2347-2349)aTc>aCc	p.I783T	ARVCF_ENST00000406522.1_Missense_Mutation_p.I714T|ARVCF_ENST00000344269.3_Missense_Mutation_p.I720T|ARVCF_ENST00000401994.1_Missense_Mutation_p.I720T|ARVCF_ENST00000406259.1_Missense_Mutation_p.I777T	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	783					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GATTTCGTGGATGGTGTTGAG	0.672																																						ENST00000263207.3																			0				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13						c.(2347-2349)aTc>aCc		armadillo repeat gene deleted in velocardiofacial syndrome							33	27	29					22																	19960732		2198	4294	6492	SO:0001583	missense	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19960732A>G		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"Armadillo repeat containing"	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.2348T>C	22.37:g.19960732A>G	ENSP00000263207:p.Ile783Thr					ARVCF_ENST00000344269.3_Missense_Mutation_p.I720T|ARVCF_ENST00000401994.1_Missense_Mutation_p.I720T|ARVCF_ENST00000406259.1_Missense_Mutation_p.I777T|ARVCF_ENST00000406522.1_Missense_Mutation_p.I714T	p.I783T	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN			14	2639	-	Colorectal(54;0.0993)		783					B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	37	c.2348T>C	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	A	19.78	3.890383	0.72524	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57	4.34	4.34	0.51931	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56992	0.2023	M	0.79475	2.455	0.80722	D	1	B;P	0.37914	0.145;0.611	B;B	0.41332	0.112;0.354	T	0.60682	-0.7215	9	.	.	.	-13.0459	12.9426	0.58354	1.0:0.0:0.0:0.0	.	783;299	O00192;E7EV58	ARVC_HUMAN;.	T	783;720;720;714;777	ENSP00000263207:I783T;ENSP00000342042:I720T;ENSP00000384341:I720T;ENSP00000384732:I714T;ENSP00000385444:I777T	.	I	-	2	0	ARVCF	18340732	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.582000	0.74049	1.956000	0.56807	0.459000	0.35465	ATC		0.672	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		6	11	0	0	0	1	0	6	11					G	19960732	A	G	19960732	3	3	28	1	0	0	0	0	1	0	0	0	1003	333	12	3	564	3	ARVCF	22	19960732	Missense_Mutation	SNP	A	TCGA-BJ-A2N9-01A-11D-A18F-08		19960732	31343834	19	758											
SEC14L4	284904	broad.mit.edu	37	chr22	30890948	30890948	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctcgatcttcctgcccaGctgcttgggacagagtcata	9	13	3	1			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr22:30890948G>A	ENST00000255858.7	-	6	507	c.424C>T	c.(424-426)Ctg>Ttg	p.L142L	SEC14L4_ENST00000381982.3_Splice_Site_p.L142L|RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000392772.2_Splice_Site_p.L88L|SEC14L4_ENST00000540456.1_Splice_Site_p.L127L|RP4-539M6.14_ENST00000610156.1_RNA	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	142	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	TTCCTGCCCAGCTGCTTGGGA	0.587																																						ENST00000392772.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21						c.e6-1		SEC14-like 4 (S. cerevisiae)	Vitamin E(DB00163)						107	86	93					22																	30890948		2203	4300	6503	SO:0001630	splice_region_variant	284904					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30890948G>A	AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488			20627	protein-coding gene	gene with protein product		612825					Standard	NM_174977		Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000255858.7:c.424-1C>T	22.37:g.30890948G>A						SEC14L4_ENST00000540456.1_Splice_Site_p.L127_splice|SEC14L4_ENST00000381982.3_Splice_Site_p.L142_splice|SEC14L4_ENST00000255858.7_Splice_Site_p.L142_splice	p.L88_splice			Q9UDX3	S14L4_HUMAN			6	539	-			142			CRAL-TRIO.		A5D6W7|A6NCV4	Splice_Site	SNP	ENST00000255858.7	37	c.261_splice	CCDS13878.1																																																																																				0.587	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321946.1	NM_174977	Silent	11	34	0	0	0	1	0	11	34					A	30890948	G	A	30890948	5	1	28	1	0	0	0	0	0	0	1	0	13984	985	34	2	830	2	SEC14L4	22	30890948	Splice_Site	SNP	G	TCGA-BJ-A2N9-01A-11D-A18F-08	10930216	30890948	20413618	20	759											
WDR45	11152	broad.mit.edu	37	chrX	48933589	48933589	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttgcttctccaggctggggCagaggtcacagagccctagg	15	11	2	2			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chrX:48933589C>A	ENST00000376372.3	-	7	633	c.452G>T	c.(451-453)tGc>tTc	p.C151F	WDR45_ENST00000485908.1_Missense_Mutation_p.C116F|WDR45_ENST00000322995.8_Missense_Mutation_p.C162F|WDR45_ENST00000376368.2_Missense_Mutation_p.C152F|WDR45_ENST00000465431.1_5'Flank|PRAF2_ENST00000376386.3_5'Flank|PRAF2_ENST00000491199.1_5'Flank|WDR45_ENST00000553851.1_Missense_Mutation_p.C49F|AF196779.12_ENST00000376358.3_Missense_Mutation_p.C49F|WDR45_ENST00000356463.3_Missense_Mutation_p.C152F|WDR45_ENST00000473974.1_Missense_Mutation_p.C151F|WDR45_ENST00000396681.4_Missense_Mutation_p.C151F|PRAF2_ENST00000376390.4_5'Flank	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	151					autophagy (GO:0006914)|cell death (GO:0008219)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						CAGGCTGGGGCAGAGGTCACA	0.597																																						ENST00000356463.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						c.(454-456)tGc>tTc		WD repeat domain 45							56	44	48					X																	48933589		2203	4300	6503	SO:0001583	missense	11152				autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding	g.chrX:48933589C>A	BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"WD repeat domain containing"	28912	protein-coding gene	gene with protein product	"neurodegeneration with brain iron accumulation 5"	300526	"WD repeat domain, X-linked 1"	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.452G>T	X.37:g.48933589C>A	ENSP00000365551:p.Cys151Phe					WDR45_ENST00000322995.8_Missense_Mutation_p.C162F|WDR45_ENST00000470270.1_5'UTR|WDR45_ENST00000553851.1_Missense_Mutation_p.C49F|WDR45_ENST00000485908.1_Missense_Mutation_p.C116F|WDR45_ENST00000396681.4_Missense_Mutation_p.C151F|WDR45_ENST00000376358.3_Missense_Mutation_p.C49F|WDR45_ENST00000376372.3_Missense_Mutation_p.C151F|WDR45_ENST00000376368.2_Missense_Mutation_p.C152F|WDR45_ENST00000473974.1_Missense_Mutation_p.C151F	p.C152F	NM_007075.3	NP_009006.2	Q9Y484	WIPI4_HUMAN			8	893	-			151					A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Missense_Mutation	SNP	ENST00000376372.3	37	c.455G>T	CCDS35250.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993589	0.54041	.	.	ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000250232	ENST00000553851;ENST00000376372;ENST00000322995;ENST00000356463;ENST00000485908;ENST00000473974;ENST00000376368;ENST00000396681;ENST00000471338;ENST00000475880;ENST00000474053;ENST00000419567;ENST00000476728;ENST00000376358	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16	3.92	3.92	0.45320	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.83427	0.5252	M	0.83118	2.625	0.80722	D	1	D;B;B;B;B;P	0.56287	0.975;0.003;0.005;0.007;0.001;0.939	B;B;B;B;B;P	0.50192	0.356;0.003;0.011;0.011;0.011;0.634	D	0.87352	0.2338	10	0.87932	D	0	-14.9901	14.6881	0.69065	0.0:1.0:0.0:0.0	.	49;151;162;116;152;151	A6NM71;C9J471;Q9Y484-2;C9JYH8;Q9Y484-3;Q9Y484	.;.;.;.;.;WIPI4_HUMAN	F	49;151;162;152;116;151;152;151;84;117;176;169;127;49	ENSP00000451962:C49F;ENSP00000365551:C151F;ENSP00000365543:C162F;ENSP00000348848:C152F;ENSP00000419897:C116F;ENSP00000417211:C151F;ENSP00000365546:C152F;ENSP00000379913:C151F;ENSP00000418466:C84F;ENSP00000418919:C117F;ENSP00000420728:C176F;ENSP00000393640:C169F;ENSP00000419324:C127F;ENSP00000365536:C49F	ENSP00000365536:C49F	C	-	2	0	AF196779.12;WDR45	48820533	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.533000	0.67160	1.896000	0.54893	0.532000	0.56150	TGC		0.597	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083418.2	NM_007075		11	12	1	0	0.0692343	1	0.0793662	11	12					A	48933589	C	A	48933589	3	1	28	1	0	0	0	0	1	0	0	0	17294	710	25	4	650	4	WDR45	23	48933589	Missense_Mutation	SNP	C	TCGA-BJ-A2N9-01A-11D-A18F-08		48933589	106336971	21	760											
KIAA0319L	79932	broad.mit.edu	37	chr1	35915475	35915475	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taaatgaactcaccaggtttCacctccacagtggtccggtc	8	13	2	1			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr1:35915475C>T	ENST00000325722.3	-	15	2580	c.2346G>A	c.(2344-2346)gtG>gtA	p.V782V	KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Silent_p.V219V	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	782	PKD 5. {ECO:0000255|PROSITE- ProRule:PRU00151}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CACCAGGTTTCACCTCCACAG	0.493																																						ENST00000325722.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34						c.(2344-2346)gtG>gtA		KIAA0319-like							142	101	115					1																	35915475		2203	4300	6503	SO:0001819	synonymous_variant	79932					cytoplasmic vesicle part|integral to membrane	protein binding	g.chr1:35915475C>T	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.2346G>A	1.37:g.35915475C>T						KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Silent_p.V219V	p.V782V	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN			15	2580	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	782			PKD 5.		B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Silent	SNP	ENST00000325722.3	37	c.2346G>A	CCDS390.1																																																																																				0.493	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874		11	44	0	0	0	0.010729	0	11	44					T	35915475	C	T	35915475	2	4	29	1	0	0	0	0	0	0	0	1	8169	813	29	2		2	KIAA0319L	1	35915475	Silent	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08		35915475	213335146	1	761											
OXER1	165140	broad.mit.edu	37	chr2	42991084	42991084	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tggggtggcagggccctccaGaggacccccccacagtggta	15	14	0	1			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr2:42991084G>C	ENST00000378661.2	-	1	317	c.236C>G	c.(235-237)tCt>tGt	p.S79C		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	79	Ser-rich.				G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cAMP biosynthetic process (GO:0030817)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050648)|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050647)|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050646)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						GGGCCCTCCAGAGGACCCCCC	0.627																																						ENST00000378661.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						c.(235-237)tCt>tGt		oxoeicosanoid (OXE) receptor 1							30	34	33					2																	42991084		2203	4300	6503	SO:0001583	missense	165140				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity	g.chr2:42991084G>C	AB083055	CCDS1810.1	2p22.1	2012-08-10			ENSG00000162881	ENSG00000162881		"GPCR / Class A : Leukotriene receptors"	24884	protein-coding gene	gene with protein product	"5-oxo-ETE acid G-protein-coupled receptor 1"					12065583, 15001665	Standard	NM_148962		Approved	GPCR, TG1019, GPR170	uc002rss.3	Q8TDS5	OTTHUMG00000128643	ENST00000378661.2:c.236C>G	2.37:g.42991084G>C	ENSP00000367930:p.Ser79Cys						p.S79C	NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN			1	317	-			79			Ser-rich.		Q86WP7|Q8NGW4	Missense_Mutation	SNP	ENST00000378661.2	37	c.236C>G	CCDS1810.1	.	.	.	.	.	.	.	.	.	.	G	8.765	0.924573	0.18056	.	.	ENSG00000162881	ENST00000378661	T	0.61510	0.1	2.7	-0.823	0.10815	.	1.098910	0.07490	U	0.905469	T	0.32346	0.0826	N	0.08118	0	0.09310	N	1	B	0.23185	0.081	B	0.14023	0.01	T	0.20405	-1.0276	10	0.59425	D	0.04	.	3.9433	0.09338	0.1345:0.0:0.3617:0.5038	.	79	Q8TDS5	OXER1_HUMAN	C	79	ENSP00000367930:S79C	ENSP00000367930:S79C	S	-	2	0	OXER1	42844588	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.048000	0.14078	-0.192000	0.10432	0.555000	0.69702	TCT		0.627	OXER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250514.1	NM_148962		9	20	0	0	0	0.006214	0	9	20					C	42991084	G	C	42991084	3	2	29	1	0	0	0	0	1	0	0	0	11331	942	33	4	1039	4	OXER1	2	42991084	Missense_Mutation	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08		42991084	200208289	2	762			1	5		3	3	89	G		8.823044e-09
OXER1	165140	broad.mit.edu	37	chr2	42991137	42991137	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcagaggagggtgagggagaGaaggagggagggagaacaga	23	2	0	5			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr2:42991137G>A	ENST00000378661.2	-	1	264	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	61	Ser-rich.				G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cAMP biosynthetic process (GO:0030817)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050648)|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050647)|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050646)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						gtgagggagagaaggagggag	0.612																																						ENST00000378661.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						c.(181-183)ttC>ttT		oxoeicosanoid (OXE) receptor 1							42	38	40					2																	42991137		2203	4300	6503	SO:0001819	synonymous_variant	165140				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity	g.chr2:42991137G>A	AB083055	CCDS1810.1	2p22.1	2012-08-10			ENSG00000162881	ENSG00000162881		"GPCR / Class A : Leukotriene receptors"	24884	protein-coding gene	gene with protein product	"5-oxo-ETE acid G-protein-coupled receptor 1"					12065583, 15001665	Standard	NM_148962		Approved	GPCR, TG1019, GPR170	uc002rss.3	Q8TDS5	OTTHUMG00000128643	ENST00000378661.2:c.183C>T	2.37:g.42991137G>A							p.F61F	NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN			1	264	-			61			Ser-rich.		Q86WP7|Q8NGW4	Silent	SNP	ENST00000378661.2	37	c.183C>T	CCDS1810.1																																																																																				0.612	OXER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250514.1	NM_148962		8	20	0	0	0	0.00308	0	8	20					A	42991137	G	A	42991137	2	1	29	1	0	0	0	0	0	0	0	1	11331	933	33	2		2	OXER1	2	42991137	Silent	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08	53	42991137	200208236	3	763			1	5		3	3	89	G		8.823044e-09
OXER1	165140	broad.mit.edu	37	chr2	42991172	42991172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacagaggaggagagagaggGagatggagagctcaggttat	18	3	1	5			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr2:42991172G>A	ENST00000378661.2	-	1	229	c.148C>T	c.(148-150)Ccc>Tcc	p.P50S		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	50	Ser-rich.				G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cAMP biosynthetic process (GO:0030817)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050648)|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050647)|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050646)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						gagagagagggagatggagag	0.602																																						ENST00000378661.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						c.(148-150)Ccc>Tcc		oxoeicosanoid (OXE) receptor 1							69	58	61					2																	42991172		2203	4300	6503	SO:0001583	missense	165140				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity	g.chr2:42991172G>A	AB083055	CCDS1810.1	2p22.1	2012-08-10			ENSG00000162881	ENSG00000162881		"GPCR / Class A : Leukotriene receptors"	24884	protein-coding gene	gene with protein product	"5-oxo-ETE acid G-protein-coupled receptor 1"					12065583, 15001665	Standard	NM_148962		Approved	GPCR, TG1019, GPR170	uc002rss.3	Q8TDS5	OTTHUMG00000128643	ENST00000378661.2:c.148C>T	2.37:g.42991172G>A	ENSP00000367930:p.Pro50Ser						p.P50S	NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN			1	229	-			50			Ser-rich.		Q86WP7|Q8NGW4	Missense_Mutation	SNP	ENST00000378661.2	37	c.148C>T	CCDS1810.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.164731	0.38217	.	.	ENSG00000162881	ENST00000378661	T	0.60171	0.21	3.09	2.2	0.27929	.	.	.	.	.	T	0.30792	0.0776	N	0.08118	0	0.09310	N	1	P	0.42757	0.789	B	0.40329	0.326	T	0.11179	-1.0598	9	0.08837	T	0.75	.	6.4874	0.22097	0.1488:0.0:0.8512:0.0	.	50	Q8TDS5	OXER1_HUMAN	S	50	ENSP00000367930:P50S	ENSP00000367930:P50S	P	-	1	0	OXER1	42844676	0.102000	0.21896	0.001000	0.08648	0.016000	0.09150	1.957000	0.40392	0.580000	0.29522	0.455000	0.32223	CCC		0.602	OXER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250514.1	NM_148962		6	39	0	0	0	0.001984	0	6	39					A	42991172	G	A	42991172	3	1	29	1	0	0	0	0	1	0	0	0	11331	1174	41	2	1127	2	OXER1	2	42991172	Missense_Mutation	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08	35	42991172	200208201	4	764			1	5		3	3	89	G		8.823044e-09
SPC25	57405	broad.mit.edu	37	chr2	169732647	169732647	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagatttctgcagccttTtcaacctctctgcattcgct	6	14	3	1			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr2:169732647T>C	ENST00000282074.2	-	5	527	c.386A>G	c.(385-387)aAa>aGa	p.K129R	SPC25_ENST00000472216.2_5'Flank	NM_020675.3	NP_065726.1	Q9HBM1	SPC25_HUMAN	SPC25, NDC80 kinetochore complex component	129	Interaction with the N-terminus of SPBC24.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	condensed chromosome kinetochore (GO:0000777)|cytosol (GO:0005829)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						CTGCAGCCTTTTCAACCTCTC	0.289																																						ENST00000282074.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						c.(385-387)aAa>aGa		SPC25, NDC80 kinetochore complex component							24	27	26					2																	169732647		2196	4293	6489	SO:0001583	missense	57405				cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	g.chr2:169732647T>C	AF225416	CCDS2229.1	2q31.1	2013-06-05	2013-06-05	2007-03-02	ENSG00000152253	ENSG00000152253			24031	protein-coding gene	gene with protein product		609395	"spindle pole body component 25 homolog (S. cerevisiae)", "SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae)"	SPBC25		12477932	Standard	NM_020675		Approved	MGC22228, AD024	uc002uel.3	Q9HBM1	OTTHUMG00000132181	ENST00000282074.2:c.386A>G	2.37:g.169732647T>C	ENSP00000282074:p.Lys129Arg						p.K129R	NM_020675.3	NP_065726.1	Q9HBM1	SPC25_HUMAN			5	527	-			129			Interaction with the N-terminus of SPBC24.		A8K4X8|D3DPC0	Missense_Mutation	SNP	ENST00000282074.2	37	c.386A>G	CCDS2229.1	.	.	.	.	.	.	.	.	.	.	T	17.24	3.339908	0.60963	.	.	ENSG00000152253	ENST00000282074	D	0.86366	-2.11	6.17	6.17	0.99709	.	0.222920	0.52532	D	0.000062	D	0.84506	0.5487	L	0.60455	1.87	0.47065	D	0.999305	B	0.23854	0.092	B	0.27500	0.08	T	0.79403	-0.1818	10	0.14252	T	0.57	-17.3381	14.3455	0.66658	0.0:0.0:0.0:1.0	.	129	Q9HBM1	SPC25_HUMAN	R	129	ENSP00000282074:K129R	ENSP00000282074:K129R	K	-	2	0	SPC25	169440893	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	4.942000	0.63547	2.371000	0.80710	0.533000	0.62120	AAA		0.289	SPC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255233.2	NM_020675		2	17	0	0	0	0.004672	0	2	17					C	169732647	T	C	169732647	3	2	29	1	0	0	0	0	1	0	0	0	15021	1841	64	3	300	3	SPC25	2	169732647	Missense_Mutation	SNP	T	TCGA-BJ-A2NA-01A-12D-A19J-08	126741475	169732647	73466726	5	765											
FAM171B	165215	broad.mit.edu	37	chr2	187559053	187559053	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaAcaacaacaacagcaaaagca	7	13	0	0	rs2370706	byFrequency	TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr2:187559053A>G	ENST00000304698.5	+	1	356	c.153A>G	c.(151-153)caA>caG	p.Q51Q	AC017101.10_ENST00000453665.1_RNA	NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	51	Gln-rich.					integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						agcagcaacaacaacaacaac	0.632																																						ENST00000304698.5																			0				NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(151-153)caA>caG		family with sequence similarity 171, member B							26	29	28					2																	187559053		2202	4300	6502	SO:0001819	synonymous_variant	165215					integral to membrane	DNA binding	g.chr2:187559053A>G	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"KIAA1946"	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.153A>G	2.37:g.187559053A>G						AC017101.10_ENST00000453665.1_RNA	p.Q51Q	NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN			1	356	+			51			Gln-rich.		Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Silent	SNP	ENST00000304698.5	37	c.153A>G	CCDS33347.1																																																																																				0.632	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		3	21	0	0	0	0.004672	0	3	21					G	187559053	A	G	187559053	2	3	29	1	0	0	0	0	0	0	0	1	5491	40	2	3		3	FAM171B	2	187559053	Silent	SNP	A	TCGA-BJ-A2NA-01A-12D-A19J-08	17826406	187559053	55640320	6	766											
SLC34A2	10568	broad.mit.edu	37	chr4	25678361	25678361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggactcaaagaccgaatgcaCggccttgtaggggacgcccc	13	13	1	1			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr4:25678361C>T	ENST00000382051.3	+	13	2113	c.2063C>T	c.(2062-2064)aCg>aTg	p.T688M	SLC34A2_ENST00000504570.1_Missense_Mutation_p.T687M|SLC34A2_ENST00000503434.1_Missense_Mutation_p.T687M	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	688					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				ACCGAATGCACGGCCTTGTAG	0.567			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"solute carrier family 34 (sodium phosphate), member 2"			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(2062-2064)aCg>aTg		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							52	53	53					4																	25678361		2203	4300	6503	SO:0001583	missense	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25678361C>T	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"Solute carriers"	11020	protein-coding gene	gene with protein product		604217	"solute carrier family 34 (sodium phosphate), member 2"			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.2063C>T	4.37:g.25678361C>T	ENSP00000371483:p.Thr688Met					SLC34A2_ENST00000504570.1_Missense_Mutation_p.T687M|SLC34A2_ENST00000503434.1_Missense_Mutation_p.T687M	p.T688M	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			13	2113	+		Breast(46;0.0503)	688					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	37	c.2063C>T	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741588	0.49151	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	T;T;T	0.23950	1.88;1.88;1.88	5.02	5.02	0.67125	.	0.099991	0.64402	D	0.000002	T	0.28928	0.0718	M	0.69823	2.125	0.09310	N	0.999999	D;D	0.56968	0.978;0.962	B;B	0.39562	0.303;0.159	T	0.43228	-0.9404	10	0.72032	D	0.01	-14.514	14.1694	0.65500	0.0:1.0:0.0:0.0	.	687;688	O95436-2;O95436	.;NPT2B_HUMAN	M	687;688;687	ENSP00000425501:T687M;ENSP00000371483:T688M;ENSP00000423021:T687M	ENSP00000371483:T688M	T	+	2	0	SLC34A2	25287459	0.650000	0.27331	0.053000	0.19242	0.021000	0.10359	2.570000	0.45981	2.492000	0.84095	0.555000	0.69702	ACG		0.567	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		20	33	0	0	0	0.008871	0	20	33					T	25678361	C	T	25678361	3	4	29	1	0	0	0	0	1	0	0	0	14568	536	19	1	2109	1	SLC34A2	4	25678361	Missense_Mutation	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08		25678361	165475915	7	767											
MRS2	57380	broad.mit.edu	37	chr6	24409748	24409748	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagccagagatttgagatttCagcatgtaatgagtatcaca	9	6	2	3			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr6:24409748C>T	ENST00000378386.3	+	4	454	c.361C>T	c.(361-363)Cag>Tag	p.Q121*	MRS2_ENST00000535061.1_Intron|MRS2_ENST00000378353.1_Nonsense_Mutation_p.Q121*|MRS2_ENST00000274747.7_Intron|MRS2_ENST00000443868.2_Nonsense_Mutation_p.Q121*|MRS2_ENST00000543597.1_5'UTR|MRS2_ENST00000483634.1_Intron	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	121						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						TTTGAGATTTCAGCATGTAAT	0.303																																						ENST00000378386.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						c.(361-363)Cag>Tag		MRS2 magnesium transporter							88	90	89					6																	24409748		2203	4299	6502	SO:0001587	stop_gained	57380				ion transport	integral to membrane|mitochondrial inner membrane		g.chr6:24409748C>T	AF288288	CCDS4552.1, CCDS69055.1, CCDS69056.1, CCDS75408.1	6p22.3-p22.1	2013-05-03	2013-05-03	2008-01-18	ENSG00000124532	ENSG00000124532			13785	protein-coding gene	gene with protein product			"MRS2-like, magnesium homeostasis factor (S. cerevisiae)", "MRS2 magnesium homeostasis factor homolog (S. cerevisiae)"	MRS2L			Standard	XM_005249242		Approved		uc003neb.3	Q9HD23	OTTHUMG00000014355	ENST00000378386.3:c.361C>T	6.37:g.24409748C>T	ENSP00000367637:p.Gln121*					MRS2_ENST00000543597.1_5'UTR|MRS2_ENST00000443868.2_Nonsense_Mutation_p.Q121*|MRS2_ENST00000378353.1_Nonsense_Mutation_p.Q121*|MRS2_ENST00000535061.1_Intron|MRS2_ENST00000483634.1_Intron|MRS2_ENST00000274747.7_Intron	p.Q121*	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN			4	454	+			121					A8K4U3|B3KNN2|B4DQL2|Q5T3Y1|Q6NTG4|Q96KF8|Q9BVP1	Nonsense_Mutation	SNP	ENST00000378386.3	37	c.361C>T	CCDS4552.1	.	.	.	.	.	.	.	.	.	.	C	37	6.516849	0.97629	.	.	ENSG00000124532	ENST00000378386;ENST00000378353;ENST00000443868	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-25.1512	19.7727	0.96373	0.0:1.0:0.0:0.0	.	.	.	.	X	121	.	ENSP00000367604:Q121X	Q	+	1	0	MRS2	24517727	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.636000	0.83301	2.758000	0.94735	0.563000	0.77884	CAG		0.303	MRS2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040002.1			5	68	0	0	0	0.001984	0	5	68					T	24409748	C	T	24409748	4	4	29	1	0	0	0	0	0	1	0	0	9851	827	29	2	375	2	MRS2	6	24409748	Nonsense_Mutation	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08		24409748	146705319	8	768											
MDN1	23195	broad.mit.edu	37	chr6	90400467	90400467	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcagggctgtcctagagttCctgctcctgtatctatacag	9	12	2	1			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr6:90400467C>T	ENST00000369393.3	-	64	10789	c.10674G>A	c.(10672-10674)agG>agA	p.R3558R	MDN1_ENST00000428876.1_Silent_p.R3558R			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3558					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCCTAGAGTTCCTGCTCCTGT	0.517																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(10672-10674)agG>agA		MDN1, midasin homolog (yeast)							131	106	114					6																	90400467		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90400467C>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.10674G>A	6.37:g.90400467C>T						MDN1_ENST00000428876.1_Silent_p.R3558R	p.R3558R			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	64	10789	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	3558					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.10674G>A	CCDS5024.1																																																																																				0.517	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			6	42	0	0	0	0.001984	0	6	42					T	90400467	C	T	90400467	2	4	29	1	0	0	0	0	0	0	0	1	9415	854	30	2		2	MDN1	6	90400467	Silent	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08	65990719	90400467	80714600	9	769											
PPP1R14C	81706	broad.mit.edu	37	chr6	150464574	150464574	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tacgatcgtaaggagcttcgGaagcggctggtgctggagga	17	7	0	0			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr6:150464574G>T	ENST00000361131.4	+	1	363	c.246G>T	c.(244-246)cgG>cgT	p.R82R		NM_030949.2	NP_112211.1	Q8TAE6	PP14C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14C	82					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)|membrane (GO:0016020)	protein serine/threonine phosphatase inhibitor activity (GO:0004865)			endometrium(1)|large_intestine(1)|prostate(1)	3		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		AGGAGCTTCGGAAGCGGCTGG	0.647																																					Melanoma(165;1879 1941 2052 16588 48349)	ENST00000361131.4																			0				endometrium(1)|large_intestine(1)|prostate(1)	3						c.(244-246)cgG>cgT		protein phosphatase 1, regulatory (inhibitor) subunit 14C							37	39	39					6																	150464574		2203	4300	6503	SO:0001819	synonymous_variant	81706				regulation of phosphorylation	cytoplasm|membrane		g.chr6:150464574G>T	AF308297	CCDS5226.1	6q24.3-q25.3	2012-04-17			ENSG00000198729	ENSG00000198729		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14952	protein-coding gene	gene with protein product	"kinase C-enhanced PP1 inhibitor"	613242				11948623	Standard	NM_030949		Approved	CPI17-like, NY-BR-81, KEPI	uc003qnt.3	Q8TAE6	OTTHUMG00000015818	ENST00000361131.4:c.246G>T	6.37:g.150464574G>T							p.R82R	NM_030949.2	NP_112211.1	Q8TAE6	PP14C_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)	1	363	+		Ovarian(120;0.0284)	82					Q5VY83|Q96BB1|Q9H277	Silent	SNP	ENST00000361131.4	37	c.246G>T	CCDS5226.1																																																																																				0.647	PPP1R14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042685.1	NM_030949		7	16	1	0	0.000157383	0.00308	0.00016246	7	16					T	150464574	G	T	150464574	2	4	29	1	0	0	0	0	0	0	0	1	12361	1161	41	4		4	PPP1R14C	6	150464574	Silent	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08	60064107	150464574	20650493	10	770											
ZDHHC14	79683	broad.mit.edu	37	chr6	157803239	157803239	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatggcccggcagacgggCgtcttctacctgacgctcgt	13	13	2	3			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr6:157803239C>T	ENST00000359775.5	+	1	1075	c.186C>T	c.(184-186)ggC>ggT	p.G62G	ZDHHC14_ENST00000414563.2_Silent_p.G62G			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	62					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		GGCAGACGGGCGTCTTCTACC	0.592																																						ENST00000359775.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17						c.(184-186)ggC>ggT		zinc finger, DHHC-type containing 14							47	52	50					6																	157803239		2203	4296	6499	SO:0001819	synonymous_variant	79683					integral to membrane	acyltransferase activity|zinc ion binding	g.chr6:157803239C>T	AF542388	CCDS5252.1, CCDS47510.1	6q25.3	2008-05-02			ENSG00000175048	ENSG00000175048		"Zinc fingers, DHHC-type"	20341	protein-coding gene	gene with protein product							Standard	NM_024630		Approved	FLJ20984, NEW1CP	uc003qqt.3	Q8IZN3	OTTHUMG00000015896	ENST00000359775.5:c.186C>T	6.37:g.157803239C>T						ZDHHC14_ENST00000414563.2_Silent_p.G62G	p.G62G			Q8IZN3	ZDH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)	1	1075	+		Breast(66;0.00586)|Ovarian(120;0.123)	62					A6NDB7|Q5JS07|Q5JS08|Q6PHS4|Q8IZN2|Q9H7F1	Silent	SNP	ENST00000359775.5	37	c.186C>T	CCDS5252.1																																																																																				0.592	ZDHHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042841.2	NM_153746		18	36	0	0	0	0.007413	0	18	36					T	157803239	C	T	157803239	2	4	29	1	0	0	0	0	0	0	0	1	17601	755	27	1		1	ZDHHC14	6	157803239	Silent	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08	7338665	157803239	13311828	11	771											
NFE2L3	9603	broad.mit.edu	37	chr7	26224243	26224243	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtaaacttcagccaggctAtaagtcaggatgtgaatctt	9	7	3	1	rs144296822	byFrequency	TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr7:26224243A>G	ENST00000056233.3	+	4	1184	c.925A>G	c.(925-927)Ata>Gta	p.I309V		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	309					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						CAGCCAGGCTATAAGTCAGGA	0.423													A|||	7	0.00139776	0.0038	0	5008	,	,		20946	0		0	False		,,,				2504	0.002					ENST00000056233.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						c.(925-927)Ata>Gta		nuclear factor, erythroid 2-like 3							121	113	116					7																	26224243		2203	4300	6503	SO:0001583	missense	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26224243A>G	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"basic leucine zipper proteins"	7783	protein-coding gene	gene with protein product		604135	"nuclear factor (erythroid-derived 2)-like 3"			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.925A>G	7.37:g.26224243A>G	ENSP00000056233:p.Ile309Val						p.I309V	NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN			4	1184	+			309					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	ENST00000056233.3	37	c.925A>G	CCDS5396.1	.	.	.	.	.	.	.	.	.	.	A	8.254	0.809715	0.16537	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	T	0.40225	1.04	5.06	-1.96	0.07525	.	0.337021	0.29002	N	0.013451	T	0.27866	0.0686	L	0.52126	1.63	0.20703	N	0.999867	B	0.15141	0.012	B	0.11329	0.006	T	0.10941	-1.0608	10	0.35671	T	0.21	-4.5867	3.6073	0.08048	0.2618:0.4353:0.2043:0.0986	.	309	Q9Y4A8	NF2L3_HUMAN	V	309;15	ENSP00000056233:I309V	ENSP00000056233:I309V	I	+	1	0	NFE2L3	26190768	0.009000	0.17119	0.940000	0.37924	0.828000	0.46876	0.190000	0.17057	-0.516000	0.06470	0.383000	0.25322	ATA		0.423	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			43	70	0	0	0	0.00874	0	43	70					G	26224243	A	G	26224243	3	3	29	1	0	0	0	0	1	0	0	0	10369	449	16	3	939	3	NFE2L3	7	26224243	Missense_Mutation	SNP	A	TCGA-BJ-A2NA-01A-12D-A19J-08		26224243	132914420	12	772											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		18	53	0	0	0	0.007413	0	18	53					T	140453136	A	T	140453136	3	4	29	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A2NA-01A-12D-A19J-08	114228893	140453136	18685527	13	773											
WHSC1L1	54904	broad.mit.edu	37	chr8	38205277	38205277	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaatcacagtttgtggtaccGaaggaggaggtggtggctgt	17	5	1	0			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr8:38205277G>A	ENST00000317025.8	-	2	930	c.413C>T	c.(412-414)tCg>tTg	p.S138L	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.S138L|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.S138L|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.S138L	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	138					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TTGTGGTACCGAAGGAGGAGG	0.418			T	NUP98	AML																																	ENST00000317025.8				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(412-414)tCg>tTg		Wolf-Hirschhorn syndrome candidate 1-like 1							94	100	98					8																	38205277		2203	4300	6503	SO:0001583	missense	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38205277G>A	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.413C>T	8.37:g.38205277G>A	ENSP00000313983:p.Ser138Leu					WHSC1L1_ENST00000527502.1_Missense_Mutation_p.S138L|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.S138L|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.S138L	p.S138L	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		2	930	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	138					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	c.413C>T	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.241230	0.39598	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502;ENST00000316985;ENST00000529223	D;D;D;T;T	0.95482	-3.72;-3.71;-3.71;-0.26;0.8	5.03	4.16	0.48862	.	0.422482	0.17399	U	0.175632	D	0.89455	0.6720	N	0.14661	0.345	0.32899	D	0.512977	P;P;B;P	0.43909	0.727;0.821;0.009;0.727	B;B;B;B	0.38616	0.143;0.277;0.008;0.143	D	0.90172	0.4236	10	0.34782	T	0.22	.	13.2932	0.60282	0.0759:0.0:0.9241:0.0	.	138;138;138;138	B7ZL11;Q9BZ95-2;Q9BZ95-3;Q9BZ95	.;.;.;NSD3_HUMAN	L	138;138;75;138;138;138	ENSP00000393284:S138L;ENSP00000313983:S138L;ENSP00000434730:S138L;ENSP00000313410:S138L;ENSP00000435422:S138L	ENSP00000313410:S138L	S	-	2	0	WHSC1L1	38324434	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.023000	0.49666	1.329000	0.45376	0.563000	0.77884	TCG		0.418	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		23	79	0	0	0	0.016522	0	23	79					A	38205277	G	A	38205277	3	1	29	1	0	0	0	0	1	0	0	0	17360	1059	37	1	4079	1	WHSC1L1	8	38205277	Missense_Mutation	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08		38205277	108158745	14	774											
SNX31	169166	broad.mit.edu	37	chr8	101661544	101661544	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggctgtagcgcaccctgcaGaagaggaacccgtccaggtg	14	12	0	2			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr8:101661544G>A	ENST00000311812.2	-	2	249	c.99C>T	c.(97-99)ttC>ttT	p.F33F		NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	33	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			GCACCCTGCAGAAGAGGAACC	0.612																																						ENST00000311812.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26						c.(97-99)ttC>ttT		sorting nexin 31							69	67	68					8																	101661544		2203	4300	6503	SO:0001819	synonymous_variant	169166				cell communication|protein transport		phosphatidylinositol binding	g.chr8:101661544G>A		CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"Sorting nexins"	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.99C>T	8.37:g.101661544G>A							p.F33F	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)		2	249	-	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		33			PX.		C9J6L9|Q8N0U9	Silent	SNP	ENST00000311812.2	37	c.99C>T	CCDS6288.1																																																																																				0.612	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628		4	34	0	0	0	0.014758	0	4	34					A	101661544	G	A	101661544	2	1	29	1	0	0	0	0	0	0	0	1	14901	933	33	2		2	SNX31	8	101661544	Silent	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08	63456267	101661544	44702478	15	775											
CYC1	1537	broad.mit.edu	37	chr8	145150862	145150862	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	attcggctgtgagtgccagtGacctggagctgcaccccccc	12	15	0	2			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr8:145150862G>A	ENST00000318911.4	+	2	329	c.256G>A	c.(256-258)Gac>Aac	p.D86N		NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	86					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)			GAGTGCCAGTGACCTGGAGCT	0.672											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.(256-258)Gac>Aac		cytochrome c-1							56	57	57					8																	145150862		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.chr8:145150862G>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.256G>A	8.37:g.145150862G>A	ENSP00000317159:p.Asp86Asn		OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1692		p.D86N	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)		2	329	+	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)		86					Q5U062|Q6FHS7	Missense_Mutation	SNP	ENST00000318911.4	37	c.256G>A	CCDS6415.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.312547	0.60414	.	.	ENSG00000179091	ENST00000318911	T	0.31510	1.49	4.58	4.58	0.56647	Cytochrome c domain (1);	0.057372	0.64402	D	0.000003	T	0.30230	0.0758	L	0.58810	1.83	0.52099	D	0.999943	B	0.13145	0.007	B	0.11329	0.006	T	0.14172	-1.0482	10	0.62326	D	0.03	-23.3661	10.7279	0.46079	0.0:0.193:0.807:0.0	.	86	P08574	CY1_HUMAN	N	86	ENSP00000317159:D86N	ENSP00000317159:D86N	D	+	1	0	CYC1	145222850	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	8.679000	0.91220	2.384000	0.81235	0.561000	0.74099	GAC		0.672	CYC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382895.1	NM_001916		6	44	0	0	0	0.001984	0	6	44					A	145150862	G	A	145150862	3	1	29	1	0	0	0	0	1	0	0	0	4135	1290	45	2	262	2	CYC1	8	145150862	Missense_Mutation	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08	43489318	145150862	1213160	16	776											
CEP110	11064	broad.mit.edu	37	chr9	123936008	123936008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgcgtcaccgggaagaccGactcaaggttgccctttaaa	10	12	2	1			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr9:123936008G>A	ENST00000373855.1	+	42	7000	c.6740G>A	c.(6739-6741)cGa>cAa	p.R2247Q	CNTRL_ENST00000238341.5_Missense_Mutation_p.R2247Q|CNTRL_ENST00000373850.1_Missense_Mutation_p.R1695Q|CNTRL_ENST00000373845.2_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	2247	Sufficient for interaction with HOOK2.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CGGGAAGACCGACTCAAGGTT	0.463																																						ENST00000373855.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(6739-6741)cGa>cAa		centriolin							110	117	114					9																	123936008		2203	4300	6503	SO:0001583	missense	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123936008G>A	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.6740G>A	9.37:g.123936008G>A	ENSP00000362962:p.Arg2247Gln					CNTRL_ENST00000238341.5_Missense_Mutation_p.R2247Q|CNTRL_ENST00000373850.1_Missense_Mutation_p.R1695Q|CNTRL_ENST00000373845.2_3'UTR	p.R2247Q			Q7Z7A1	CNTRL_HUMAN			42	7000	+			2247			Sufficient for interaction with HOOK2.		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.6740G>A	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.150376	0.37923	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000394368;ENST00000373850;ENST00000373845	T;T;T	0.33216	1.71;1.71;1.42	6.03	4.18	0.49190	.	.	.	.	.	T	0.19485	0.0468	L	0.28115	0.83	0.29888	N	0.825473	B	0.30193	0.272	B	0.15052	0.012	T	0.09400	-1.0676	9	0.27082	T	0.32	.	11.043	0.47842	0.1522:0.0:0.8478:0.0	.	2247	Q7Z7A1	CNTRL_HUMAN	Q	2247;2247;2247;404;1695;929	ENSP00000362962:R2247Q;ENSP00000238341:R2247Q;ENSP00000362956:R1695Q	ENSP00000238341:R2247Q	R	+	2	0	CNTRL	122975829	0.996000	0.38824	0.989000	0.46669	0.399000	0.30720	2.043000	0.41231	0.866000	0.35629	-0.140000	0.14226	CGA		0.463	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		18	108	0	0	0	0.006122	0	18	108					A	123936008	G	A	123936008	3	1	29	1	0	0	0	0	1	0	0	0	3245	1058	37	1	6898	1	CEP110	9	123936008	Missense_Mutation	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08		123936008	17277423	17	777											
RAB11FIP2	22841	broad.mit.edu	37	chr10	119798740	119798740	+	Frame_Shift_Del	DEL	C	C	-													attggttttgaaaataaattCatgctgctgtcccatgtttc							TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr10:119798740delC	ENST00000355624.3	-	3	1447	c.1008delG	c.(1006-1008)atgfs	p.M336fs	RAB11FIP2_ENST00000369199.3_Frame_Shift_Del_p.M336fs|RP11-354M20.3_ENST00000417968.4_RNA|RP11-354M20.3_ENST00000451610.2_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	336					establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		AAAATAAATTCATGCTGCTGT	0.343																																						ENST00000355624.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19						c.(1006-1008)atfs		RAB11 family interacting protein 2 (class I)							113	117	116					10																	119798740		2203	4299	6502	SO:0001589	frameshift_variant	22841				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity	g.chr10:119798740delC	AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.1008delG	10.37:g.119798740delC	ENSP00000347839:p.Met336fs					RP11-354M20.3_ENST00000451610.2_RNA|RAB11FIP2_ENST00000369199.3_Frame_Shift_Del_p.M336fs	p.M336fs	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN		all cancers(201;0.0238)	3	1447	-		Colorectal(252;0.235)	336					A6NEI4|Q3I768|Q9Y2F0	Frame_Shift_Del	DEL	ENST00000355624.3	37	c.1008delG	CCDS7602.1																																																																																				0.343	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050583.1	NM_014904		32	70						32	70	---	---	---	---	-	119798740	C	-	119798740	7	5	29	1	0	1	0	1	0	0	0	0	12894	826	29	0	542	0	RAB11FIP2	10	119798740	Frame_Shift_Del	DEL	C	TCGA-BJ-A2NA-01A-12D-A19J-08		119798740	15736007	18	778											
IGSF22	283284	broad.mit.edu	37	chr11	18741432	18741432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcttcttcttgggagcaGggggtgccctaggagaagga	16	8	3	1			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr11:18741432G>A	ENST00000513874.1	-	7	666	c.527C>T	c.(526-528)cCt>cTt	p.P176L	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	176	Lys-rich.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CTTGGGAGCAGGGGGTGCCCT	0.502																																						ENST00000513874.1																			0				NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.(526-528)cCt>cTt		immunoglobulin superfamily, member 22							133	129	130					11																	18741432		1883	4116	5999	SO:0001583	missense	283284							g.chr11:18741432G>A	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.527C>T	11.37:g.18741432G>A	ENSP00000421191:p.Pro176Leu					RP11-1081L13.4_ENST00000527285.1_RNA	p.P176L	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN			7	666	-			176			Lys-rich.		A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	c.527C>T	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399995	0.62177	.	.	ENSG00000179057	ENST00000513874	T	0.52983	0.64	5.02	2.08	0.27032	.	0.000000	0.36628	U	0.002498	T	0.39410	0.1077	L	0.54323	1.7	0.38547	D	0.949375	B	0.20780	0.048	B	0.22386	0.039	T	0.20638	-1.0269	10	0.38643	T	0.18	.	7.9838	0.30198	0.2543:0.0:0.7457:0.0	.	176	D6RGV7	.	L	176	ENSP00000421191:P176L	ENSP00000322422:P176L	P	-	2	0	IGSF22	18698008	0.971000	0.33674	0.234000	0.24042	0.964000	0.63967	2.102000	0.41796	0.148000	0.19059	0.557000	0.71058	CCT		0.502	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		7	117	0	0	0	0.001984	0	7	117					A	18741432	G	A	18741432	3	1	29	1	0	0	0	0	1	0	0	0	7600	1000	35	2	3521	2	IGSF22	11	18741432	Missense_Mutation	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08		18741432	116265084	19	779											
OR10Q1	219960	broad.mit.edu	37	chr11	57995529	57995529	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgatttggctgtcctcatcCtctgaggtgctggaccgagg	14	11	2	1			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr11:57995529C>T	ENST00000316770.2	-	1	861	c.819G>A	c.(817-819)gaG>gaA	p.E273E		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				TGTCCTCATCCTCTGAGGTGC	0.572																																						ENST00000316770.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35						c.(817-819)gaG>gaA		olfactory receptor, family 10, subfamily Q, member 1							105	93	97					11																	57995529		2201	4295	6496	SO:0001819	synonymous_variant	219960				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57995529C>T	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"GPCR / Class A : Olfactory receptors"	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.819G>A	11.37:g.57995529C>T							p.E273E	NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN			1	861	-		Breast(21;0.0589)	273					Q6IFG4	Silent	SNP	ENST00000316770.2	37	c.819G>A	CCDS31547.1																																																																																				0.572	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		30	38	0	0	0	0.008361	0	30	38					T	57995529	C	T	57995529	2	4	29	1	0	0	0	0	0	0	0	1	10916	680	24	2		2	OR10Q1	11	57995529	Silent	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08	39254097	57995529	77010987	20	780											
EMG1	10436	broad.mit.edu	37	chr12	7080210	7080211	+	Splice_Site	INS	-	-	G													aaacaagatcggaggccgtaINSgtttattgtggtgctggaag					rs60117710|rs374779752|rs200041551		TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr12:7080210_7080211insG	ENST00000261406.6	+	2	266		c.e2-1		PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000535923.1_5'Flank|PHB2_ENST00000542912.1_5'Flank|EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000546111.1_5'Flank|PHB2_ENST00000544134.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		CGGAGGCCGTAGTTTATTGTGG	0.569													GG|G|GG|deletion	5008	1	1	1	5008	,	,		18008	1		1	False		,,,				2504	1					ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3732,16		1865,2,7						3.0	1.0		dbSNP_129	28	7880,30		3934,12,9	no	frameshift	EMG1	NM_006331.7		5799,14,16	A1A1,A1R,RR		0.3793,0.4269,0.3946				11612,46				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080210_7080211insG	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"EMG1 nucleolar protein homolog (S. cerevisiae)"			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->G	12.37:g.7080211_7080211dupG						U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA				Q92979	NEP1_HUMAN			0	155_156	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Intron	8	9						8	9	---	---	---	---	G	7080211	-	G	7080210	8	5	29	1	0	1	1	0	0	0	1	0	5090	420	15	0	126	0	EMG1	12	7080210	Splice_Site	INS	-	TCGA-BJ-A2NA-01A-12D-A19J-08		7080210	126771685	21	781											
ST8SIA1	6489	broad.mit.edu	37	chr12	22487068	22487068	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaccacgacacagagggcActggctcccatgggcagccg	14	14	0	1			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr12:22487068A>G	ENST00000396037.4	-	1	580	c.99T>C	c.(97-99)agT>agC	p.S33S	ST8SIA1_ENST00000539510.1_5'UTR|ST8SIA1_ENST00000536558.1_Intron|ST8SIA1_ENST00000404299.3_Silent_p.S33S|ST8SIA1_ENST00000381424.3_Silent_p.S33S	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	33					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						CACAGAGGGCACTGGCTCCCA	0.667																																						ENST00000396037.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						c.(97-99)agT>agC		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1							94	91	92					12																	22487068		2203	4300	6503	SO:0001819	synonymous_variant	6489				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr12:22487068A>G	L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	2.4.99.8	"Sialyltransferases"	10869	protein-coding gene	gene with protein product	"ST8Sia I"	601123	"sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A"	SIAT8, SIAT8A		7901202	Standard	NM_003034		Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000396037.4:c.99T>C	12.37:g.22487068A>G						ST8SIA1_ENST00000536558.1_Intron|ST8SIA1_ENST00000539510.1_5'UTR|ST8SIA1_ENST00000404299.3_Silent_p.S33S|ST8SIA1_ENST00000381424.3_Silent_p.S33S	p.S33S	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN			1	580	-			33					A8K4H6|Q17RL0|Q6PZN5|Q93064	Silent	SNP	ENST00000396037.4	37	c.99T>C	CCDS8697.1																																																																																				0.667	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402245.2	NM_003034		29	72	0	0	0	0.008361	0	29	72					G	22487068	A	G	22487068	2	3	29	1	0	0	0	0	0	0	0	1	15230	156	6	3		3	ST8SIA1	12	22487068	Silent	SNP	A	TCGA-BJ-A2NA-01A-12D-A19J-08	15406858	22487068	111364827	22	782											
MYF5	4617	broad.mit.edu	37	chr12	81112653	81112653	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttagtatatgccacagaTaaaaactccttatccagctt	4	11	0	1			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr12:81112653T>C	ENST00000228644.3	+	3	743	c.591T>C	c.(589-591)gaT>gaC	p.D197D		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	197					camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						ATGCCACAGATAAAAACTCCT	0.423																																						ENST00000228644.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						c.(589-591)gaT>gaC		myogenic factor 5							90	94	93					12																	81112653		2203	4300	6503	SO:0001819	synonymous_variant	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81112653T>C		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"Basic helix-loop-helix proteins"	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.591T>C	12.37:g.81112653T>C							p.D197D	NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN			3	743	+			197					Q6ISR9	Silent	SNP	ENST00000228644.3	37	c.591T>C	CCDS9020.1																																																																																				0.423	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		34	60	0	0	0	0.021022	0	34	60					C	81112653	T	C	81112653	2	2	29	1	0	0	0	0	0	0	0	1	10027	1403	49	3		3	MYF5	12	81112653	Silent	SNP	T	TCGA-BJ-A2NA-01A-12D-A19J-08	58625585	81112653	52739242	23	783											
FAM48A	55578	broad.mit.edu	37	chr13	37622068	37622068	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctctgtcgggcactttcaatGacatactaaaaaacaaaagt	6	9	2	1			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr13:37622068G>A	ENST00000350612.6	-	4	265	c.45C>T	c.(43-45)gtC>gtT	p.V15V	SUPT20H_ENST00000470359.2_5'UTR|SUPT20H_ENST00000356185.3_Silent_p.V15V|SUPT20H_ENST00000475892.1_Silent_p.V15V|SUPT20H_ENST00000360252.4_Silent_p.V15V|SUPT20H_ENST00000542180.1_Silent_p.V3V|SUPT20H_ENST00000464744.1_Silent_p.V15V	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	15					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										CACTTTCAATGACATACTAAA	0.318																																						ENST00000360252.4																			0											c.(43-45)gtC>gtT		suppressor of Ty 20 homolog (S. cerevisiae)							104	107	106					13																	37622068		2202	4299	6501	SO:0001819	synonymous_variant	55578							g.chr13:37622068G>A	AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"p38 interacting protein", "transcription factor (p38 interacting protein)"	613417	"chromosome 13 open reading frame 19", "family with sequence similarity 48, member A"	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.45C>T	13.37:g.37622068G>A						SUPT20H_ENST00000356185.3_Silent_p.V15V|SUPT20H_ENST00000464744.1_Silent_p.V15V|SUPT20H_ENST00000470359.2_5'UTR|SUPT20H_ENST00000350612.6_Silent_p.V15V|SUPT20H_ENST00000475892.1_Silent_p.V15V|SUPT20H_ENST00000542180.1_Silent_p.V3V	p.V15V	NM_001278481.1|NM_001278482.1|NM_017569.3	NP_001265410.1|NP_001265411.1|NP_060039.1					4	292	-								E7ER46|Q71RF3|Q9Y6A6	Silent	SNP	ENST00000350612.6	37	c.45C>T	CCDS31959.1																																																																																				0.318	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569		6	52	0	0	0	0.001168	0	6	52					A	37622068	G	A	37622068	2	1	29	1	0	0	0	0	0	0	0	1	5572	1277	45	2		2	FAM48A	13	37622068	Silent	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08		37622068	77547810	24	784											
PIBF1	10464	broad.mit.edu	37	chr13	73539420	73539420	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtttctttagcttgacagAgccaattcgctattaaacca	7	9	1	2			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr13:73539420A>C	ENST00000326291.6	+	15	2180	c.1842A>C	c.(1840-1842)agA>agC	p.R614S		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	614				DLEHRKDQVTQLSQELDR -> RSGTSKGPSNTAFTRSLTE (in Ref. 3; AAQ67659). {ECO:0000305}.		centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AGCTTGACAGAGCCAATTCGC	0.343																																						ENST00000326291.6																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(1840-1842)agA>agC		progesterone immunomodulatory binding factor 1							77	74	75					13																	73539420		2202	4300	6502	SO:0001583	missense	10464					centrosome		g.chr13:73539420A>C	AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"progesterone-induced blocking factor 1"	607532	"chromosome 13 open reading frame 24"	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.1842A>C	13.37:g.73539420A>C	ENSP00000317144:p.Arg614Ser						p.R614S	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN		GBM - Glioblastoma multiforme(99;0.000664)	15	2180	+		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)	614	DLEHRKDQVTQLSQELDR -> RSGTSKGPSNTAFTRSLTE (in Ref. 3; AAQ67659).				O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Missense_Mutation	SNP	ENST00000326291.6	37	c.1842A>C	CCDS31991.1	.	.	.	.	.	.	.	.	.	.	A	7.008	0.556202	0.13436	.	.	ENSG00000083535	ENST00000326291;ENST00000326314	T	0.26373	1.74	4.85	1.89	0.25635	.	0.232106	0.43747	D	0.000538	T	0.15955	0.0384	L	0.40543	1.245	0.43971	D	0.996659	P;P	0.36909	0.573;0.573	B;B	0.36666	0.23;0.23	T	0.10428	-1.0630	10	0.18276	T	0.48	-12.416	4.4416	0.11577	0.5655:0.0:0.2674:0.1671	.	614;614	Q8WXW3;Q4G0R1	PIBF1_HUMAN;.	S	614;73	ENSP00000317144:R614S	ENSP00000317144:R614S	R	+	3	2	PIBF1	72437421	0.999000	0.42202	1.000000	0.80357	0.645000	0.38454	0.350000	0.20079	0.148000	0.19059	-0.462000	0.05337	AGA		0.343	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346		10	29	0	0	0	0.013537	0	10	29					C	73539420	A	C	73539420	3	2	29	1	0	0	0	0	1	0	0	0	11879	301	11	5	1896	5	PIBF1	13	73539420	Missense_Mutation	SNP	A	TCGA-BJ-A2NA-01A-12D-A19J-08	35917352	73539420	41630458	25	785											
SLC39A2	29986	broad.mit.edu	37	chr14	21468323	21468323	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctggtgatgctgattcagctCatgtaagtacctcccaccat	8	12	2	2			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr14:21468323C>T	ENST00000298681.4	+	3	452	c.295C>T	c.(295-297)Cat>Tat	p.H99Y	SLC39A2_ENST00000554422.1_3'UTR|RP11-84C10.4_ENST00000557335.1_RNA	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter), member 2	99					transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		TGATTCAGCTCATGTAAGTAC	0.463																																						ENST00000298681.4																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14						c.(295-297)Cat>Tat		solute carrier family 39 (zinc transporter), member 2							109	95	100					14																	21468323		2203	4300	6503	SO:0001583	missense	29986					cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity	g.chr14:21468323C>T	AF186081	CCDS9563.1, CCDS58303.1	14q11.1	2013-05-22			ENSG00000165794	ENSG00000165794		"Solute carriers"	17127	protein-coding gene	gene with protein product		612166				10681536, 7751801	Standard	NM_014579		Approved	ZIP2	uc001vyr.3	Q9NP94	OTTHUMG00000029616	ENST00000298681.4:c.295C>T	14.37:g.21468323C>T	ENSP00000298681:p.His99Tyr					SLC39A2_ENST00000554422.1_3'UTR	p.H99Y	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)	3	452	+	all_cancers(95;0.00267)		99					B2RC76|G3V5X2|Q4QQJ1|Q4V9S4|Q96JT6|Q9UD20	Missense_Mutation	SNP	ENST00000298681.4	37	c.295C>T	CCDS9563.1	.	.	.	.	.	.	.	.	.	.	C	0.354	-0.943163	0.02322	.	.	ENSG00000165794	ENST00000298681	T	0.08102	3.13	5.27	-5.19	0.02832	.	3.072470	0.00674	N	0.000649	T	0.02342	0.0072	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38845	-0.9642	10	0.02654	T	1	13.8239	4.1357	0.10169	0.1183:0.186:0.1167:0.579	.	99	Q9NP94	S39A2_HUMAN	Y	99	ENSP00000298681:H99Y	ENSP00000298681:H99Y	H	+	1	0	SLC39A2	20538163	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	-0.887000	0.04152	-0.684000	0.05183	-0.150000	0.13652	CAT		0.463	SLC39A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073829.2	NM_014579		7	41	0	0	0	0.004482	0	7	41					T	21468323	C	T	21468323	3	4	29	1	0	0	0	0	1	0	0	0	14618	826	29	2	305	2	SLC39A2	14	21468323	Missense_Mutation	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08		21468323	85881217	26	786											
KHNYN	23351	broad.mit.edu	37	chr14	24900883	24900883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccgggtagaagagctggCagagcggctgagctgggact	19	8	0	4			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr14:24900883C>T	ENST00000251343.5	+	3	555	c.416C>T	c.(415-417)gCa>gTa	p.A139V	CBLN3_ENST00000267406.6_5'Flank|CBLN3_ENST00000555436.1_5'Flank|KHNYN_ENST00000554268.1_5'Flank|KHNYN_ENST00000553935.1_Missense_Mutation_p.A139V|KHNYN_ENST00000556842.1_Missense_Mutation_p.A139V			O15037	KHNYN_HUMAN	KH and NYN domain containing	139							RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GAAGAGCTGGCAGAGCGGCTG	0.622											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000251343.5																			0				kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						c.(415-417)gCa>gTa		KH and NYN domain containing							50	57	55					14																	24900883		2203	4300	6503	SO:0001583	missense	23351							g.chr14:24900883C>T	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"KIAA0323"	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.416C>T	14.37:g.24900883C>T	ENSP00000251343:p.Ala139Val		OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	774	KHNYN_ENST00000553935.1_Missense_Mutation_p.A139V|KHNYN_ENST00000556842.1_Missense_Mutation_p.A139V	p.A139V			O15037	KHNYN_HUMAN			3	555	+			139					Q86TZ6|Q8IUQ2|Q96BA9	Missense_Mutation	SNP	ENST00000251343.5	37	c.416C>T	CCDS32058.1	.	.	.	.	.	.	.	.	.	.	C	0.031	-1.331967	0.01298	.	.	ENSG00000100441	ENST00000251343;ENST00000556842;ENST00000553935	T;T;T	0.38722	1.12;1.12;1.12	5.04	-2.81	0.05805	.	0.675193	0.13453	N	0.386742	T	0.08403	0.0209	N	0.00496	-1.435	0.35182	D	0.772539	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44922	-0.9296	10	0.02654	T	1	.	5.0214	0.14363	0.1321:0.3312:0.0:0.5367	.	180;139	D3DS77;O15037	.;KHNYN_HUMAN	V	139	ENSP00000251343:A139V;ENSP00000451106:A139V;ENSP00000450799:A139V	ENSP00000251343:A139V	A	+	2	0	KHNYN	23970723	0.969000	0.33509	0.647000	0.29507	0.109000	0.19521	0.392000	0.20801	-0.211000	0.10124	-0.440000	0.05779	GCA		0.622	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1			8	55	0	0	0	0.00308	0	8	55					T	24900883	C	T	24900883	3	4	29	1	0	0	0	0	1	0	0	0	8150	710	25	2	422	2	KHNYN	14	24900883	Missense_Mutation	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08	3432560	24900883	82448657	27	787											
NKX2-1	7080	broad.mit.edu	37	chr14	36988488	36988488	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccgccctccatgcccactttCttgtagctttcctccagggg	8	17	1	0			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr14:36988488C>G	ENST00000518149.1	-	2	680	c.75G>C	c.(73-75)aaG>aaC	p.K25N	NKX2-1-AS1_ENST00000521292.2_RNA|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000498187.2_Missense_Mutation_p.K25N|NKX2-1_ENST00000522719.2_Missense_Mutation_p.K25N|NKX2-1_ENST00000354822.5_Missense_Mutation_p.K55N			P43699	NKX21_HUMAN	NK2 homeobox 1	25					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|brain development (GO:0007420)|cerebral cortex cell migration (GO:0021795)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|Clara cell differentiation (GO:0060486)|developmental induction (GO:0031128)|endoderm development (GO:0007492)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|forebrain development (GO:0030900)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain neuron fate commitment (GO:0021877)|globus pallidus development (GO:0021759)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|locomotory behavior (GO:0007626)|lung development (GO:0030324)|lung saccule development (GO:0060430)|menarche (GO:0042696)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|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 migration (GO:0001764)|oligodendrocyte differentiation (GO:0048709)|phospholipid metabolic process (GO:0006644)|pituitary gland development (GO:0021983)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|rhythmic process (GO:0048511)|thyroid gland development (GO:0030878)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|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)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		TGCCCACTTTCTTGTAGCTTT	0.652			A		NSCLC																																	ENST00000518149.1				Dom	yes		14	14q13	7080	A	NK2 homeobox 1			E			NSCLC		0				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7						c.(73-75)aaG>aaC		NK2 homeobox 1							12	14	14					14																	36988488		2182	4256	6438	SO:0001583	missense	7080				epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding	g.chr14:36988488C>G		CCDS9659.1, CCDS41945.1	14q13.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000136352	ENSG00000136352		"Homeoboxes / ANTP class : NKL subclass"	11825	protein-coding gene	gene with protein product		600635	"benign chorea", "thyroid transcription factor 1"	NKX2A, BCH, TITF1		1976511	Standard	NM_001079668		Approved	TTF-1, TTF1	uc001wtu.3	P43699	OTTHUMG00000140225	ENST00000518149.1:c.75G>C	14.37:g.36988488C>G	ENSP00000428341:p.Lys25Asn					RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000354822.5_Missense_Mutation_p.K55N|NKX2-1_ENST00000522719.2_Missense_Mutation_p.K25N|NKX2-1-AS1_ENST00000521292.2_RNA|NKX2-1_ENST00000498187.2_Missense_Mutation_p.K25N	p.K25N			P43699	NKX21_HUMAN	Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)	2	680	-	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		25					D3DSA3|O14954|O14955|Q7KZF6|Q9BRJ8	Missense_Mutation	SNP	ENST00000518149.1	37	c.75G>C	CCDS9659.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.929769	0.73327	.	.	ENSG00000136352	ENST00000354822;ENST00000498187;ENST00000518149;ENST00000522719	T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63	5.12	5.12	0.69794	.	0.167890	0.51477	D	0.000099	T	0.80374	0.4611	M	0.83692	2.655	0.80722	D	1	D;P	0.58268	0.982;0.917	P;B	0.50708	0.648;0.446	T	0.82458	-0.0447	10	0.44086	T	0.13	.	18.5237	0.90963	0.0:1.0:0.0:0.0	.	55;25	P43699-3;P43699	.;NKX21_HUMAN	N	55;25;25;25	ENSP00000346879:K55N;ENSP00000429607:K25N;ENSP00000428341:K25N;ENSP00000429519:K25N	ENSP00000346879:K55N	K	-	3	2	NKX2-1	36058239	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.410000	0.66381	2.381000	0.81170	0.462000	0.41574	AAG		0.652	NKX2-1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376225.2	NM_003317		3	20	0	0	0	0.009096	0	3	20					G	36988488	C	G	36988488	3	3	29	1	0	0	0	0	1	0	0	0	10449	912	32	4	1048	4	NKX2-1	14	36988488	Missense_Mutation	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08	12087605	36988488	70361052	28	788											
KIAA0831	22863	broad.mit.edu	37	chr14	55848817	55848817	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgtcacagacccatcgtcctGagaggtaagttgtcctccgg	11	13	1	2			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr14:55848817G>A	ENST00000247178.5	-	6	775	c.740C>T	c.(739-741)tCa>tTa	p.S247L		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	247					autophagic vacuole assembly (GO:0000045)|endosome to lysosome transport (GO:0008333)|positive regulation of autophagy (GO:0010508)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|pre-autophagosomal structure membrane (GO:0034045)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						CCATCGTCCTGAGAGGTAAGT	0.532																																						ENST00000247178.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						c.(739-741)tCa>tTa		autophagy related 14							182	154	163					14																	55848817		2203	4300	6503	SO:0001583	missense	22863				autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding	g.chr14:55848817G>A	AB020638	CCDS32087.1	14q22.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000126775	ENSG00000126775			19962	protein-coding gene	gene with protein product	"Barkor", "beclin 1-associated autophagy-related key regulator"	613515	"KIAA0831", "ATG14 autophagy related 14 homolog (S. cerevisiae)"	KIAA0831		18843052	Standard	NM_014924		Approved	ATG14L	uc001xbx.2	Q6ZNE5	OTTHUMG00000172129	ENST00000247178.5:c.740C>T	14.37:g.55848817G>A	ENSP00000247178:p.Ser247Leu						p.S247L	NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN			6	775	-			247					A6NJE4|A8K9U5|B7ZWP5|O94920|Q32MK7|Q32MK8	Missense_Mutation	SNP	ENST00000247178.5	37	c.740C>T	CCDS32087.1	.	.	.	.	.	.	.	.	.	.	g	20.2	3.955424	0.73902	.	.	ENSG00000126775	ENST00000247178	T	0.33216	1.42	5.87	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.48874	0.1524	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.44406	-0.9330	10	0.42905	T	0.14	-9.6849	17.1487	0.86773	0.0:0.1263:0.8737:0.0	.	247	Q6ZNE5	BAKOR_HUMAN	L	247	ENSP00000247178:S247L	ENSP00000247178:S247L	S	-	2	0	ATG14	54918570	1.000000	0.71417	0.097000	0.21041	0.542000	0.35054	9.614000	0.98353	1.464000	0.47987	0.650000	0.86243	TCA		0.532	ATG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416992.1	NM_014924		21	81	0	0	0	0.014323	0	21	81					A	55848817	G	A	55848817	3	1	29	1	0	0	0	0	1	0	0	0	8195	1294	45	2	758	2	KIAA0831	14	55848817	Missense_Mutation	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08	18860329	55848817	51500723	29	789											
TTBK2	146057	broad.mit.edu	37	chr15	43067809	43067809	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atctggaagatattcttcatCatagtgccagatgtggtcag	10	7	5	2			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr15:43067809C>T	ENST00000267890.6	-	13	1630	c.1522G>A	c.(1522-1524)Gat>Aat	p.D508N		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	508					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TATTCTTCATCATAGTGCCAG	0.502																																						ENST00000267890.6																			0				NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43						c.(1522-1524)Gat>Aat		tau tubulin kinase 2							103	100	101					15																	43067809		1989	4155	6144	SO:0001583	missense	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43067809C>T	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"spinocerebellar ataxia 11"	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.1522G>A	15.37:g.43067809C>T	ENSP00000267890:p.Asp508Asn						p.D508N	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	13	1630	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	508					O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	c.1522G>A	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	C	36	5.691451	0.96793	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.66099	-0.19	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.79100	0.4389	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.961;0.996	T	0.79077	-0.1951	10	0.87932	D	0	.	20.4024	0.99000	0.0:1.0:0.0:0.0	.	439;508	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	N	508;438;913	ENSP00000267890:D508N	ENSP00000263802:D913N	D	-	1	0	TTBK2	40855101	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.294000	0.78760	2.827000	0.97445	0.650000	0.86243	GAT		0.502	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		12	80	0	0	0	0.013537	0	12	80					T	43067809	C	T	43067809	3	4	29	1	0	0	0	0	1	0	0	0	16674	826	29	2	2224	2	TTBK2	15	43067809	Missense_Mutation	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08		43067809	59463583	30	790											
ABHD2	11057	broad.mit.edu	37	chr15	89659640	89659640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggctgctgtgctgtacGtgatcgtccggtgtttgaac	14	9	0	2			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr15:89659640G>A	ENST00000352732.5	+	3	602	c.82G>A	c.(82-84)Gtg>Atg	p.V28M	ABHD2_ENST00000565973.1_Missense_Mutation_p.V28M|ABHD2_ENST00000355100.3_Missense_Mutation_p.V28M	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	28					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					TGTGCTGTACGTGATCGTCCG	0.577																																					Colon(11;252 417 24570 33239 41878)	ENST00000352732.5																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23						c.(82-84)Gtg>Atg		abhydrolase domain containing 2							116	99	105					15																	89659640		2200	4299	6499	SO:0001583	missense	11057					integral to membrane	carboxylesterase activity	g.chr15:89659640G>A	X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"Abhydrolase domain containing"	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.82G>A	15.37:g.89659640G>A	ENSP00000268129:p.Val28Met					ABHD2_ENST00000355100.3_Missense_Mutation_p.V28M|ABHD2_ENST00000565973.1_Missense_Mutation_p.V28M	p.V28M	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN			3	602	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		28					Q53G48|Q53GU0|Q5FVD9|Q8TC79	Missense_Mutation	SNP	ENST00000352732.5	37	c.82G>A	CCDS10348.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892064	0.72524	.	.	ENSG00000140526	ENST00000352732;ENST00000355100	T;T	0.15603	2.41;2.41	5.91	5.91	0.95273	.	0.136993	0.51477	D	0.000081	T	0.18383	0.0441	L	0.60455	1.87	0.58432	D	0.999997	P	0.51240	0.943	B	0.40982	0.345	T	0.00824	-1.1551	10	0.49607	T	0.09	-1.7991	10.6141	0.45441	0.1413:0.0:0.8587:0.0	.	28	P08910	ABHD2_HUMAN	M	28	ENSP00000268129:V28M;ENSP00000347217:V28M	ENSP00000268129:V28M	V	+	1	0	ABHD2	87460644	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.492000	0.53259	2.793000	0.96121	0.655000	0.94253	GTG		0.577	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309074.2			34	59	0	0	0	0.015359	0	34	59					A	89659640	G	A	89659640	3	1	29	1	0	0	0	0	1	0	0	0	82	1145	40	1	84	1	ABHD2	15	89659640	Missense_Mutation	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08	46591831	89659640	12871752	31	791											
OR2C1	4993	broad.mit.edu	37	chr16	3405956	3405956	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cagtgatggacggggtgaatGatagctccttgcagggcttt	15	7	0	3			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr16:3405956G>C	ENST00000304936.2	+	1	68	c.16G>C	c.(16-18)Gat>Cat	p.D6H		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	6					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)	cell cortex (GO:0005938)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CGGGGTGAATGATAGCTCCTT	0.463																																						ENST00000304936.2																			0				kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(16-18)Gat>Cat		olfactory receptor, family 2, subfamily C, member 1							77	72	74					16																	3405956		2197	4300	6497	SO:0001583	missense	4993				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr16:3405956G>C	AF098664	CCDS10502.1	16p13.3	2012-08-09			ENSG00000168158	ENSG00000168158		"GPCR / Class A : Olfactory receptors"	8242	protein-coding gene	gene with protein product				OR2C2P		9847080	Standard	NM_012368		Approved	OLFmf3	uc002cuw.1	O95371	OTTHUMG00000090505	ENST00000304936.2:c.16G>C	16.37:g.3405956G>C	ENSP00000307726:p.Asp6His						p.D6H	NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN			1	68	+			6					A0AVA4|Q6IF34|Q6IF55	Missense_Mutation	SNP	ENST00000304936.2	37	c.16G>C	CCDS10502.1	.	.	.	.	.	.	.	.	.	.	g	7.834	0.720557	0.15372	.	.	ENSG00000168158	ENST00000304936	T	0.00578	6.44	4.35	-0.49	0.12049	.	2.273470	0.01900	N	0.039121	T	0.00384	0.0012	N	0.02247	-0.625	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46020	-0.9221	10	0.41790	T	0.15	.	8.0946	0.30820	0.6361:0.0:0.3639:0.0	.	6	O95371	OR2C1_HUMAN	H	6	ENSP00000307726:D6H	ENSP00000307726:D6H	D	+	1	0	OR2C1	3345957	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.131000	0.01311	-0.311000	0.08754	-0.494000	0.04653	GAT		0.463	OR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206993.3			9	42	0	0	0	0.006214	0	9	42					C	3405956	G	C	3405956	3	2	29	1	0	0	0	0	1	0	0	0	10992	1290	45	4	18	4	OR2C1	16	3405956	Missense_Mutation	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08		3405956	86948797	32	792											
FA2H	79152	broad.mit.edu	37	chr16	74750252	74750252	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggcccatcctcacctgacttCtgatgtgcaaagtggtgctt	10	12	2	2			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr16:74750252C>G	ENST00000219368.3	-	6	1101	c.1032G>C	c.(1030-1032)caG>caC	p.Q344H	FA2H_ENST00000544337.1_Missense_Mutation_p.Q131H	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	344					cell death (GO:0008219)|central nervous system myelin maintenance (GO:0032286)|fatty acid biosynthetic process (GO:0006633)|lipid modification (GO:0030258)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of cell proliferation (GO:0042127)|regulation of hair cycle (GO:0042634)|sebaceous gland cell differentiation (GO:0001949)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	fatty acid alpha-hydroxylase activity (GO:0080132)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						CACCTGACTTCTGATGTGCAA	0.542																																						ENST00000219368.3																			0				endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						c.(1030-1032)caG>caC		fatty acid 2-hydroxylase							100	85	90					16																	74750252		2198	4300	6498	SO:0001583	missense	79152				cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity	g.chr16:74750252C>G	BC002679	CCDS10911.1	16q23	2013-03-04	2003-10-29	2003-10-31	ENSG00000103089	ENSG00000103089		"Fatty acid hydroxylase domain containing"	21197	protein-coding gene	gene with protein product	"fatty acid hydroxylase"	611026	"fatty acid hydroxylase domain containing 1", "spastic paraplegia 35 (autosomal recessive)"	FAXDC1, SPG35		20104589	Standard	NM_024306		Approved	FAAH, FLJ25287	uc002fde.2	Q7L5A8	OTTHUMG00000137603	ENST00000219368.3:c.1032G>C	16.37:g.74750252C>G	ENSP00000219368:p.Gln344His					FA2H_ENST00000544337.1_Missense_Mutation_p.Q131H	p.Q344H	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN			6	1101	-			344					B7Z8T6|O75213|Q96DK1|Q9H1A5	Missense_Mutation	SNP	ENST00000219368.3	37	c.1032G>C	CCDS10911.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.074800	0.36566	.	.	ENSG00000103089	ENST00000219368;ENST00000544337	D;D	0.86097	-2.07;-2.07	5.4	1.98	0.26296	.	0.050919	0.85682	N	0.000000	T	0.72590	0.3479	L	0.43152	1.355	0.45648	D	0.998578	B;B	0.30741	0.293;0.071	B;B	0.28991	0.097;0.038	T	0.58983	-0.7539	10	0.13853	T	0.58	-9.8988	3.5304	0.07774	0.1871:0.4844:0.0:0.3285	.	344;252	Q7L5A8;B2RDE6	FA2H_HUMAN;.	H	344;131	ENSP00000219368:Q344H;ENSP00000442334:Q131H	ENSP00000219368:Q344H	Q	-	3	2	FA2H	73307753	1.000000	0.71417	0.996000	0.52242	0.934000	0.57294	1.113000	0.31184	0.649000	0.30751	0.655000	0.94253	CAG		0.542	FA2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269015.2	NM_024306		7	42	0	0	0	0.00308	0	7	42					G	74750252	C	G	74750252	3	3	29	1	0	0	0	0	1	0	0	0	5352	912	32	4	94	4	FA2H	16	74750252	Missense_Mutation	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08	71344296	74750252	15604501	33	793											
PHF23	79142	broad.mit.edu	37	chr17	7139630	7139630	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tctcttttccccatccccagGagttggccgaggcctccgaa	9	16	1	0			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr17:7139630G>C	ENST00000320316.3	-	4	842	c.616C>G	c.(616-618)Cct>Gct	p.P206A	PHF23_ENST00000571362.1_Missense_Mutation_p.P139A|PHF23_ENST00000454255.2_Missense_Mutation_p.P202A|PHF23_ENST00000570753.1_5'Flank|PHF23_ENST00000576955.1_Missense_Mutation_p.P76A|DVL2_ENST00000575458.1_5'Flank|DVL2_ENST00000005340.5_5'Flank	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	206							zinc ion binding (GO:0008270)			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						CCATCCCCAGGAGTTGGCCGA	0.582																																						ENST00000320316.3																			0				breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						c.(616-618)Cct>Gct		PHD finger protein 23							81	90	87					17																	7139630		1861	4089	5950	SO:0001583	missense	79142						zinc ion binding	g.chr17:7139630G>C	AK122791	CCDS42250.1, CCDS67143.1, CCDS67144.1	17p13.1	2014-08-13			ENSG00000040633	ENSG00000040633		"Zinc fingers, PHD-type"	28428	protein-coding gene	gene with protein product		612910					Standard	NM_024297		Approved	MGC2941, FLJ16355	uc002gfa.3	Q9BUL5	OTTHUMG00000177972	ENST00000320316.3:c.616C>G	17.37:g.7139630G>C	ENSP00000322579:p.Pro206Ala					PHF23_ENST00000576955.1_Missense_Mutation_p.P76A|PHF23_ENST00000454255.2_Missense_Mutation_p.P202A|PHF23_ENST00000571362.1_Missense_Mutation_p.P139A	p.P206A	NM_024297.2	NP_077273.2	Q9BUL5	PHF23_HUMAN			4	842	-			206					A1DZ74|B3KVH8|B4DLK6|D3DTN4|Q8IZK0|Q96HG7|Q9H5X0	Missense_Mutation	SNP	ENST00000320316.3	37	c.616C>G	CCDS42250.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.735268	0.48939	.	.	ENSG00000040633	ENST00000320316;ENST00000454255	T;T	0.34859	1.35;1.34	4.92	2.93	0.34026	.	0.137208	0.49916	D	0.000133	T	0.34542	0.0901	N	0.14661	0.345	0.32968	D	0.521921	D;B	0.63880	0.993;0.068	D;B	0.70935	0.971;0.012	T	0.42531	-0.9446	10	0.42905	T	0.14	-7.2061	5.1001	0.14754	0.1854:0.1713:0.6432:0.0	.	139;206	B4DLK6;Q9BUL5	.;PHF23_HUMAN	A	206;202	ENSP00000322579:P206A;ENSP00000414607:P202A	ENSP00000322579:P206A	P	-	1	0	PHF23	7080354	0.998000	0.40836	0.991000	0.47740	0.991000	0.79684	2.676000	0.46883	0.660000	0.30964	0.563000	0.77884	CCT		0.582	PHF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440047.1	NM_024297		17	76	0	0	0	0.004007	0	17	76					C	7139630	G	C	7139630	3	2	29	1	0	0	0	0	1	0	0	0	11835	1174	41	4	603	4	PHF23	17	7139630	Missense_Mutation	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08		7139630	74055580	34	794											
PHF23	79142	broad.mit.edu	37	chr17	7139847	7139847	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agatcaaagagagagtccttGagcttcatcttctcaagcaa	8	9	4	4			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr17:7139847G>C	ENST00000320316.3	-	4	625	c.399C>G	c.(397-399)ctC>ctG	p.L133L	PHF23_ENST00000571362.1_Silent_p.L66L|PHF23_ENST00000454255.2_Silent_p.L129L|PHF23_ENST00000570753.1_5'Flank|PHF23_ENST00000576955.1_Silent_p.L3L|DVL2_ENST00000575458.1_5'Flank|DVL2_ENST00000005340.5_5'Flank	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	133							zinc ion binding (GO:0008270)			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						GAGAGTCCTTGAGCTTCATCT	0.602																																						ENST00000320316.3																			0				breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						c.(397-399)ctC>ctG		PHD finger protein 23							81	90	87					17																	7139847		1972	4152	6124	SO:0001819	synonymous_variant	79142						zinc ion binding	g.chr17:7139847G>C	AK122791	CCDS42250.1, CCDS67143.1, CCDS67144.1	17p13.1	2014-08-13			ENSG00000040633	ENSG00000040633		"Zinc fingers, PHD-type"	28428	protein-coding gene	gene with protein product		612910					Standard	NM_024297		Approved	MGC2941, FLJ16355	uc002gfa.3	Q9BUL5	OTTHUMG00000177972	ENST00000320316.3:c.399C>G	17.37:g.7139847G>C						PHF23_ENST00000576955.1_Silent_p.L3L|PHF23_ENST00000454255.2_Silent_p.L129L|PHF23_ENST00000571362.1_Silent_p.L66L	p.L133L	NM_024297.2	NP_077273.2	Q9BUL5	PHF23_HUMAN			4	625	-			133					A1DZ74|B3KVH8|B4DLK6|D3DTN4|Q8IZK0|Q96HG7|Q9H5X0	Silent	SNP	ENST00000320316.3	37	c.399C>G	CCDS42250.1																																																																																				0.602	PHF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440047.1	NM_024297		11	65	0	0	0	0.010729	0	11	65					C	7139847	G	C	7139847	2	2	29	1	0	0	0	0	0	0	0	1	11835	1277	45	4		4	PHF23	17	7139847	Silent	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08	217	7139847	74055363	35	795											
ALOX12B	242	broad.mit.edu	37	chr17	7977036	7977036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agatgactatagtgacatatCggatcagctcaggcacggtt	11	8	2	3			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr17:7977036C>T	ENST00000319144.4	-	13	1954	c.1694G>A	c.(1693-1695)cGa>cAa	p.R565Q	ALOX12B_ENST00000577351.1_Intron	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	565	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						AGTGACATATCGGATCAGCTC	0.622										Multiple Myeloma(8;0.094)	OREG0024152	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000319144.4																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						c.(1693-1695)cGa>cAa		arachidonate 12-lipoxygenase, 12R type							92	75	81					17																	7977036		2203	4300	6503	SO:0001583	missense	242				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7977036C>T	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"Arachidonate lipoxygenases"	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.1694G>A	17.37:g.7977036C>T	ENSP00000315167:p.Arg565Gln	Multiple Myeloma(8;0.094)	OREG0024152	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	645	ALOX12B_ENST00000577351.1_Intron	p.R565Q	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN			13	1954	-			565			Lipoxygenase.			Missense_Mutation	SNP	ENST00000319144.4	37	c.1694G>A	CCDS11129.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.941563	0.34283	.	.	ENSG00000179477	ENST00000319144	D	0.89485	-2.52	5.08	3.85	0.44370	Lipoxygenase, C-terminal (3);	0.273257	0.32868	N	0.005552	T	0.76608	0.4011	N	0.17800	0.525	0.20074	N	0.999937	B	0.26809	0.16	B	0.19946	0.027	T	0.61212	-0.7108	10	0.21540	T	0.41	-1.2885	6.3715	0.21483	0.0:0.6434:0.0:0.3566	.	565	O75342	LX12B_HUMAN	Q	565	ENSP00000315167:R565Q	ENSP00000315167:R565Q	R	-	2	0	ALOX12B	7917761	0.700000	0.27796	0.998000	0.56505	0.946000	0.59487	1.081000	0.30791	0.803000	0.34113	0.650000	0.86243	CGA		0.622	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3			3	20	0	0	0	0.004672	0	3	20					T	7977036	C	T	7977036	3	4	29	1	0	0	0	0	1	0	0	0	537	884	31	1	423	1	ALOX12B	17	7977036	Missense_Mutation	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08	837189	7977036	73218174	36	796											
CREB3L3	84699	broad.mit.edu	37	chr19	4154971	4154971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgtttgaccggcaggacGgcatcctgagacacgtggag	14	11	0	2	rs201474344		TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr19:4154971G>A	ENST00000078445.2	+	2	250	c.103G>A	c.(103-105)Ggc>Agc	p.G35S	CREB3L3_ENST00000602147.1_Missense_Mutation_p.G35S|CREB3L3_ENST00000252587.3_Missense_Mutation_p.G26S|CREB3L3_ENST00000602257.1_Missense_Mutation_p.G35S|CREB3L3_ENST00000595923.1_Missense_Mutation_p.G35S	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	35					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	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)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGCAGGACGGCATCCTGAG	0.637																																						ENST00000078445.2																			0				breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24						c.(103-105)Ggc>Agc		cAMP responsive element binding protein 3-like 3		G	SER/GLY	2,4404	4.2+/-10.8	0,2,2201	96	84	88		103	5.2	0.9	19		88	0,8600		0,0,4300	no	missense	CREB3L3	NM_032607.1	56	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	35/462	4154971	2,13004	2203	4300	6503	SO:0001583	missense	84699				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:4154971G>A		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"basic leucine zipper proteins"	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.103G>A	19.37:g.4154971G>A	ENSP00000078445:p.Gly35Ser					CREB3L3_ENST00000595923.1_Missense_Mutation_p.G35S|CREB3L3_ENST00000602147.1_Missense_Mutation_p.G35S|CREB3L3_ENST00000602257.1_Missense_Mutation_p.G35S|CREB3L3_ENST00000252587.3_Missense_Mutation_p.G26S	p.G35S	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	2	250	+			35					B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	ENST00000078445.2	37	c.103G>A	CCDS12121.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.674006	0.67928	4.54E-4	0.0	ENSG00000060566	ENST00000078445;ENST00000381943;ENST00000252587	D;D	0.91686	-2.89;-2.89	5.18	5.18	0.71444	.	0.057246	0.64402	D	0.000001	D	0.94785	0.8316	M	0.72894	2.215	0.37460	D	0.915194	D;D;D;D	0.89917	1.0;0.998;0.999;0.998	D;P;P;P	0.91635	0.999;0.757;0.877;0.757	D	0.93625	0.6951	10	0.16420	T	0.52	-9.6483	14.2452	0.65983	0.0:0.0:1.0:0.0	.	35;35;35;35	Q68CJ9-3;B7ZL69;Q68CJ9-2;Q68CJ9	.;.;.;CR3L3_HUMAN	S	35;35;26	ENSP00000078445:G35S;ENSP00000252587:G26S	ENSP00000078445:G35S	G	+	1	0	CREB3L3	4105971	1.000000	0.71417	0.897000	0.35233	0.238000	0.25445	5.804000	0.69135	2.428000	0.82296	0.306000	0.20318	GGC		0.637	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607		26	63	0	0	0	0.007291	0	26	63					A	4154971	G	A	4154971	3	1	29	1	0	0	0	0	1	0	0	0	3858	1116	39	1	109	1	CREB3L3	19	4154971	Missense_Mutation	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08		4154971	54974012	37	797											
C19orf39	126074	broad.mit.edu	37	chr19	11486194	11486194	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgtttctccttctagaagatCcgcttccagtacccaccctc	5	16	2	2			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr19:11486194C>A	ENST00000312423.2	+	2	251	c.192C>A	c.(190-192)atC>atA	p.I64I	CTD-2342J14.6_ENST00000590399.1_RNA	NM_175871.3	NP_787067.2	Q6NVH7	SWAP1_HUMAN	SWIM-type zinc finger 7 associated protein 1	64					ATP catabolic process (GO:0006200)|double-strand break repair via homologous recombination (GO:0000724)|protein stabilization (GO:0050821)	nucleus (GO:0005634)|Shu complex (GO:0097196)	ATPase activity (GO:0016887)|single-stranded DNA binding (GO:0003697)										TCTAGAAGATCCGCTTCCAGT	0.587																																						ENST00000312423.2																			0											c.(190-192)atC>atA		SWIM-type zinc finger 7 associated protein 1							115	135	128					19																	11486194		2202	4298	6500	SO:0001819	synonymous_variant	126074							g.chr19:11486194C>A	AK092438	CCDS12259.1	19p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000173928	ENSG00000173928			26638	protein-coding gene	gene with protein product	"zinc finger, SWIM-type containing 7 associated protein 1", "SWS1-associated protein 1"	614536	"chromosome 19 open reading frame 39"	C19orf39		21965664	Standard	NM_175871		Approved	FLJ35119, ZSWIM7AP1, SWS1AP1	uc002mrg.1	Q6NVH7		ENST00000312423.2:c.192C>A	19.37:g.11486194C>A							p.I64I	NM_175871.3	NP_787067.2	Q6NVH7	CS039_HUMAN			2	251	+			64					Q8NAM1	Silent	SNP	ENST00000312423.2	37	c.192C>A	CCDS12259.1																																																																																				0.587	SWSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458789.1	NM_175871		80	134	1	0	4.64247e-43	0.01441	5.0359e-43	80	134					A	11486194	C	A	11486194	2	1	29	1	0	0	0	0	0	0	0	1	1922	845	30	4		4	C19orf39	19	11486194	Silent	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08	7331223	11486194	47642789	38	798											
MYO9B	4650	broad.mit.edu	37	chr19	17313022	17313022	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctggccactgagcgtggccaGaaggacaccaacctggtcct	12	14	0	2			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr19:17313022G>A	ENST00000594824.1	+	28	4893	c.4746G>A	c.(4744-4746)caG>caA	p.Q1582Q	MYO9B_ENST00000595618.1_Silent_p.Q1582Q|MYO9B_ENST00000397274.2_Silent_p.Q1582Q			Q13459	MYO9B_HUMAN	myosin IXB	1582	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AGCGTGGCCAGAAGGACACCA	0.562																																						ENST00000595618.1																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(4744-4746)caG>caA		myosin IXB							42	45	44					19																	17313022		2013	4181	6194	SO:0001819	synonymous_variant	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17313022G>A		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.4746G>A	19.37:g.17313022G>A						MYO9B_ENST00000594824.1_Silent_p.Q1582Q|MYO9B_ENST00000397274.2_Silent_p.Q1582Q	p.Q1582Q	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN			28	4898	+			1582			Tail.		O75314|Q9NUJ2|Q9UHN0	Silent	SNP	ENST00000594824.1	37	c.4746G>A																																																																																					0.562	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			5	12	0	0	0	0.014758	0	5	12					A	17313022	G	A	17313022	2	1	29	1	0	0	0	0	0	0	0	1	10085	933	33	2		2	MYO9B	19	17313022	Silent	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08	5826828	17313022	41815961	39	799											
UNC13A	23025	broad.mit.edu	37	chr19	17756912	17756912	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgcctgcaagccctgggCgcagaccactggaagacaca	11	14	0	2			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr19:17756912C>T	ENST00000519716.2	-	18	2052	c.2053G>A	c.(2053-2055)Gcc>Acc	p.A685T	UNC13A_ENST00000551649.1_Missense_Mutation_p.A685T|UNC13A_ENST00000252773.7_Missense_Mutation_p.A685T|UNC13A_ENST00000552293.1_Missense_Mutation_p.A685T|UNC13A_ENST00000428389.2_Missense_Mutation_p.A773T|UNC13A_ENST00000550896.1_Missense_Mutation_p.A683T	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	685	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.A685T(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AAGCCCTGGGCGCAGACCACT	0.557																																						ENST00000428389.2																			1	Substitution - Missense(1)	p.A685T(1)	large_intestine(1)	breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(2317-2319)Gcc>Acc		unc-13 homolog A (C. elegans)							67	66	66					19																	17756912		2078	4249	6327	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17756912C>T	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2053G>A	19.37:g.17756912C>T	ENSP00000429562:p.Ala685Thr					UNC13A_ENST00000519716.2_Missense_Mutation_p.A685T|UNC13A_ENST00000551649.1_Missense_Mutation_p.A685T|UNC13A_ENST00000550896.1_Missense_Mutation_p.A683T|UNC13A_ENST00000252773.7_Missense_Mutation_p.A685T|UNC13A_ENST00000552293.1_Missense_Mutation_p.A685T	p.A773T			Q9UPW8	UN13A_HUMAN			19	2316	-			685					E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.2317G>A	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052219	0.75960	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94;-1.94	3.47	3.47	0.39725	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	U	0.000001	D	0.93598	0.7956	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94841	0.8005	10	0.87932	D	0	-20.1126	12.8397	0.57794	0.0:1.0:0.0:0.0	.	685	Q9UPW8	UN13A_HUMAN	T	685;773;685;685;685;683	ENSP00000429562:A685T;ENSP00000400409:A773T;ENSP00000252773:A685T;ENSP00000447236:A685T;ENSP00000447572:A685T;ENSP00000446831:A683T	ENSP00000252773:A685T	A	-	1	0	UNC13A	17617912	1.000000	0.71417	0.998000	0.56505	0.630000	0.37929	7.595000	0.82710	1.688000	0.51068	0.306000	0.20318	GCC		0.557	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		5	23	0	0	0	0.001168	0	5	23					T	17756912	C	T	17756912	3	4	29	1	0	0	0	0	1	0	0	0	16981	768	27	1	3162	1	UNC13A	19	17756912	Missense_Mutation	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08	443890	17756912	41372071	40	800											
SIRT2	22933	broad.mit.edu	37	chr19	39370317	39370317	+	Frame_Shift_Del	DEL	A	A	-													ccatgcctcctccgaggcccAtaatcatccccaggaaaggg							TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr19:39370317delA	ENST00000249396.7	-	14	1203	c.902delT	c.(901-903)atgfs	p.M301fs	SIRT2_ENST00000392081.2_Frame_Shift_Del_p.M264fs|RINL_ENST00000591812.1_5'Flank|RINL_ENST00000340740.3_5'Flank|SIRT2_ENST00000358931.5_Intron|RINL_ENST00000598904.1_5'Flank	NM_012237.3	NP_036369.2	Q8IXJ6	SIR2_HUMAN	sirtuin 2	301	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.|Peptide inhibitor binding.				autophagy (GO:0006914)|cellular lipid catabolic process (GO:0044242)|cellular response to caloric restriction (GO:0061433)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to hypoxia (GO:0071456)|cellular response to molecule of bacterial origin (GO:0071219)|cellular response to oxidative stress (GO:0034599)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|chromatin silencing at telomere (GO:0006348)|gene silencing (GO:0016458)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|innate immune response (GO:0045087)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|myelination in peripheral nervous system (GO:0022011)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)|negative regulation of defense response to bacterium (GO:1900425)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of oligodendrocyte progenitor proliferation (GO:0070446)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cell division (GO:0051781)|positive regulation of DNA binding (GO:0043388)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of meiosis (GO:0045836)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)|protein kinase B signaling (GO:0043491)|regulation of cell cycle (GO:0051726)|regulation of exit from mitosis (GO:0007096)|regulation of myelination (GO:0031641)|regulation of phosphorylation (GO:0042325)|response to redox state (GO:0051775)|ripoptosome assembly involved in necroptotic process (GO:1901026)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)	centriole (GO:0005814)|centrosome (GO:0005813)|chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|glial cell projection (GO:0097386)|juxtaparanode region of axon (GO:0044224)|lateral loop (GO:0043219)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|myelin sheath (GO:0043209)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|spindle (GO:0005819)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|NAD-dependent protein deacetylase activity (GO:0034979)|protein deacetylase activity (GO:0033558)|transcription factor binding (GO:0008134)|tubulin deacetylase activity (GO:0042903)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			TCCGAGGCCCATAATCATCCC	0.652																																						ENST00000249396.7																			0				endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9						c.(901-903)agfs		sirtuin 2							13	12	13					19																	39370317		2197	4295	6492	SO:0001589	frameshift_variant	22933				cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding	g.chr19:39370317delA	AF083107	CCDS12523.1, CCDS46069.1, CCDS74361.1	19q13	2010-06-25	2010-06-25		ENSG00000068903	ENSG00000068903			10886	protein-coding gene	gene with protein product		604480	"sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 2", "sirtuin (silent mating type information regulation 2 homolog) 2 (S. cerevisiae)"	SIR2L		10393250, 10381378	Standard	NM_012237		Approved		uc002ojt.2	Q8IXJ6	OTTHUMG00000150480	ENST00000249396.7:c.902delT	19.37:g.39370317delA	ENSP00000249396:p.Met301fs					SIRT2_ENST00000358931.5_Intron|SIRT2_ENST00000392081.2_Frame_Shift_Del_p.M264fs	p.M301fs	NM_012237.3	NP_036369.2	Q8IXJ6	SIRT2_HUMAN	Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)		14	1203	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		301			Deacetylase sirtuin-type.		A8K3V1|B2RB45|O95889|Q924Y7|Q9P0G8|Q9UNT0|Q9Y6E9|U5TP13	Frame_Shift_Del	DEL	ENST00000249396.7	37	c.902delT	CCDS12523.1																																																																																				0.652	SIRT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318278.1			2	4						2	4	---	---	---	---	-	39370317	A	-	39370317	7	5	29	1	0	1	0	1	0	0	0	0	14338	217	8	0	279	0	SIRT2	19	39370317	Frame_Shift_Del	DEL	A	TCGA-BJ-A2NA-01A-12D-A19J-08	21613405	39370317	19758666	41	801											
PPFIA3	8541	broad.mit.edu	37	chr19	49651468	49651468	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaatgttagatcaccttaaCaagaaggagctccggggcca	11	10	1	2			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr19:49651468C>T	ENST00000334186.4	+	24	3313	c.2964C>T	c.(2962-2964)aaC>aaT	p.N988N	PPFIA3_ENST00000602351.1_Silent_p.N979N	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	988	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		ATCACCTTAACAAGAAGGAGC	0.612																																						ENST00000334186.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35						c.(2962-2964)aaC>aaT		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3							48	47	48					19																	49651468		2203	4300	6503	SO:0001819	synonymous_variant	8541					cell surface|cytoplasm	protein binding	g.chr19:49651468C>T	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"Sterile alpha motif (SAM) domain containing"	9247	protein-coding gene	gene with protein product	"protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3", "liprin-alpha 3", "liprin"	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.2964C>T	19.37:g.49651468C>T						PPFIA3_ENST00000602351.1_Silent_p.N979N	p.N988N	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	24	3313	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	988			SAM 2.		A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Silent	SNP	ENST00000334186.4	37	c.2964C>T	CCDS12758.1																																																																																				0.612	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		8	30	0	0	0	0.00308	0	8	30					T	49651468	C	T	49651468	2	4	29	1	0	0	0	0	0	0	0	1	12311	477	17	2		2	PPFIA3	19	49651468	Silent	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08	10281151	49651468	9477515	42	802											
ZSCAN5B	342933	broad.mit.edu	37	chr19	56701879	56701879	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aacgcaggcagaaggtgtgtCagcatccacattttccacag	10	11	1	1			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr19:56701879C>T	ENST00000586855.2	-	5	1118	c.805G>A	c.(805-807)Gac>Aac	p.D269N	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.D269N			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	269					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GAAGGTGTGTCAGCATCCACA	0.502																																						ENST00000586855.2																			0				breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(805-807)Gac>Aac		zinc finger and SCAN domain containing 5B							124	121	122					19																	56701879		2203	4300	6503	SO:0001583	missense	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56701879C>T		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"-", "Zinc fingers, C2H2-type"	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.805G>A	19.37:g.56701879C>T	ENSP00000466072:p.Asp269Asn					ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.D269N	p.D269N			A6NJL1	ZSA5B_HUMAN			5	1118	-			269						Missense_Mutation	SNP	ENST00000586855.2	37	c.805G>A	CCDS46203.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.347857	0.41599	.	.	ENSG00000197213	ENST00000358992	T	0.05717	3.4	1.86	1.86	0.25419	.	.	.	.	.	T	0.17959	0.0431	M	0.76574	2.34	0.09310	N	1	D	0.69078	0.997	D	0.77004	0.989	T	0.15122	-1.0448	9	0.16420	T	0.52	.	7.274	0.26273	0.0:1.0:0.0:0.0	.	269	A6NJL1	ZSA5B_HUMAN	N	269	ENSP00000351883:D269N	ENSP00000351883:D269N	D	-	1	0	ZSCAN5B	61393691	0.000000	0.05858	0.004000	0.12327	0.040000	0.13550	0.399000	0.20916	1.356000	0.45884	0.306000	0.20318	GAC		0.502	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		24	111	0	0	0	0.016522	0	24	111					T	56701879	C	T	56701879	3	4	29	1	0	0	0	0	1	0	0	0	18236	826	29	2	686	2	ZSCAN5B	19	56701879	Missense_Mutation	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08	7050411	56701879	2427104	43	803											
RASD2	23551	broad.mit.edu	37	chr22	35947855	35947855	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcagcatggccaagctgCcacacgagatgagccccgcc	10	16	2	2			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr22:35947855C>T	ENST00000216127.4	+	3	1219	c.577C>T	c.(577-579)Cca>Tca	p.P193S		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	193	Interaction with GNB1, GNB2 and GNB3.				locomotory behavior (GO:0007626)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein sumoylation (GO:0033235)|regulation of cAMP-mediated signaling (GO:0043949)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission, dopaminergic (GO:0001963)	plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						GGCCAAGCTGCCACACGAGAT	0.612																																						ENST00000216127.4																			0				endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						c.(577-579)Cca>Tca		RASD family, member 2							115	81	93					22																	35947855		2203	4300	6503	SO:0001583	missense	23551				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity	g.chr22:35947855C>T	AF279143	CCDS13916.1	22q13.1	2014-05-09			ENSG00000100302	ENSG00000100302			18229	protein-coding gene	gene with protein product	"tumor endothelial marker 2", "Ras homolog enriched in striatum"	612842				10947988, 10467249, 14724584	Standard	NM_014310		Approved	TEM2, Rhes, MGC:4834	uc003anx.3	Q96D21	OTTHUMG00000150607	ENST00000216127.4:c.577C>T	22.37:g.35947855C>T	ENSP00000216127:p.Pro193Ser						p.P193S	NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN			3	1219	+			193			Interaction with GNB1, GNB2 and GNB3.		O95520|Q5THY8	Missense_Mutation	SNP	ENST00000216127.4	37	c.577C>T	CCDS13916.1	.	.	.	.	.	.	.	.	.	.	C	35	5.468382	0.96274	.	.	ENSG00000100302	ENST00000216127	T	0.72051	-0.62	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.82893	0.5136	L	0.60067	1.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82456	-0.0448	10	0.54805	T	0.06	.	19.877	0.96880	0.0:1.0:0.0:0.0	.	193	Q96D21	RHES_HUMAN	S	193	ENSP00000216127:P193S	ENSP00000216127:P193S	P	+	1	0	RASD2	34277801	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.724000	0.84798	2.709000	0.92574	0.561000	0.74099	CCA		0.612	RASD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319063.1	NM_014310		3	34	0	0	0	0.004672	0	3	34					T	35947855	C	T	35947855	3	4	29	1	0	0	0	0	1	0	0	0	13067	739	26	2	583	2	RASD2	22	35947855	Missense_Mutation	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08		35947855	15356711	44	804											
TYMP	1890	broad.mit.edu	37	chr22	50967746	50967746	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccagatccatgccccgaagtCggatggccatcagcatggcc	11	15	1	1			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr22:50967746C>A	ENST00000252029.3	-	3	398	c.236G>T	c.(235-237)cGa>cTa	p.R79L	TYMP_ENST00000395678.3_Missense_Mutation_p.R79L|TYMP_ENST00000395680.1_Missense_Mutation_p.R79L|SCO2_ENST00000543927.1_5'Flank|TYMP_ENST00000395681.1_Missense_Mutation_p.R79L	NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN	thymidine phosphorylase	79					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|chemotaxis (GO:0006935)|DNA replication (GO:0006260)|mitochondrial genome maintenance (GO:0000002)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphorylase activity (GO:0004645)|platelet-derived growth factor receptor binding (GO:0005161)|pyrimidine-nucleoside phosphorylase activity (GO:0016154)|thymidine phosphorylase activity (GO:0009032)|transferase activity, transferring pentosyl groups (GO:0016763)			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		all_cancers(38;4.58e-14)|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)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Cidofovir(DB00369)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Trifluridine(DB00432)	GCCCCGAAGTCGGATGGCCAT	0.692																																						ENST00000252029.3																			0				large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5						c.(235-237)cGa>cTa		thymidine phosphorylase	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)						40	41	41					22																	50967746		2203	4298	6501	SO:0001583	missense	1890				angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity	g.chr22:50967746C>A	M63193	CCDS14096.1, CCDS58811.1	22q13	2014-09-17	2008-01-21	2008-01-21	ENSG00000025708	ENSG00000025708	2.4.2.4		3148	protein-coding gene	gene with protein product	"gliostatin"	131222	"endothelial cell growth factor 1 (platelet-derived)"	MNGIE, ECGF1		1590793, 11733540	Standard	NM_001113755		Approved		uc003bme.5	P19971	OTTHUMG00000150249	ENST00000252029.3:c.236G>T	22.37:g.50967746C>A	ENSP00000252029:p.Arg79Leu					TYMP_ENST00000395681.1_Missense_Mutation_p.R79L|TYMP_ENST00000395678.3_Missense_Mutation_p.R79L|TYMP_ENST00000395680.1_Missense_Mutation_p.R79L	p.R79L	NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	3	398	-		all_cancers(38;4.58e-14)|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)	79					A8MW15|H9KVA0|Q13390|Q8WVB7	Missense_Mutation	SNP	ENST00000252029.3	37	c.236G>T	CCDS14096.1	.	.	.	.	.	.	.	.	.	.	C	9.085	1.000211	0.19121	.	.	ENSG00000025708	ENST00000395680;ENST00000395681;ENST00000252029;ENST00000395678;ENST00000425169	D;D;D;D;D	0.94793	-3.52;-3.52;-3.52;-3.52;-3.52	4.76	3.73	0.42828	Glycosyl transferase, family 3, N-terminal (2);Glycosyl transferase, family 3, subgroup, N-terminal (1);	0.155014	0.46145	D	0.000307	D	0.88157	0.6361	N	0.20685	0.6	0.46044	D	0.998832	P;P;P;P	0.52170	0.951;0.907;0.907;0.907	B;B;B;B	0.40602	0.334;0.236;0.236;0.236	D	0.87543	0.2460	10	0.66056	D	0.02	-8.504	10.6052	0.45390	0.0:0.9036:0.0:0.0964	.	79;79;79;79	B4DVR2;B2RBL3;E5KRG5;P19971	.;.;.;TYPH_HUMAN	L	79	ENSP00000379037:R79L;ENSP00000379038:R79L;ENSP00000252029:R79L;ENSP00000379036:R79L;ENSP00000395875:R79L	ENSP00000252029:R79L	R	-	2	0	TYMP	49314612	0.994000	0.37717	0.836000	0.33094	0.324000	0.28378	2.403000	0.44530	0.992000	0.38840	0.462000	0.41574	CGA		0.692	TYMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317081.1	NM_001953		13	26	1	0	1.5842e-08	0.016723	1.68981e-08	13	26					A	50967746	C	A	50967746	3	1	29	1	0	0	0	0	1	0	0	0	16808	884	31	4	1244	4	TYMP	22	50967746	Missense_Mutation	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08	15019891	50967746	336820	45	805											
TAF7L	54457	broad.mit.edu	37	chrX	100547854	100547854	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatccgtttgagtgtcctcGtcggcaggaatctgggtgcc	14	11	1	1			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chrX:100547854G>A	ENST00000372907.3	-	1	191	c.180C>T	c.(178-180)gaC>gaT	p.D60D	TAF7L_ENST00000356784.1_5'Flank|TAF7L_ENST00000372905.2_De_novo_Start_OutOfFrame	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	60					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						GAGTGTCCTCGTCGGCAGGAA	0.562																																					Ovarian(104;431 1530 3210 15406 18594)	ENST00000372905.2																			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								TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa							119	116	117					X																	100547854		2203	4300	6503	SO:0001819	synonymous_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:100547854G>A	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.180C>T	X.37:g.100547854G>A						TAF7L_ENST00000372907.3_Silent_p.D60D				Q5H9L4	TAF7L_HUMAN			0	205	-								Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Translation_Start_Site	SNP	ENST00000372907.3	37		CCDS35347.1																																																																																				0.562	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			65	27	0	0	0	0.01441	0	65	27					A	100547854	G	A	100547854	2	1	29	1	0	0	0	0	0	0	0	1	15530	1136	40	1		1	TAF7L	23	100547854	Silent	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08		100547854	54722706	46	806											
PNCK	139728	broad.mit.edu	37	chrX	152937598	152937598	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cacagttccatggccaggtaGaggtgggaagggctctcgtg	16	9	1	1			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chrX:152937598G>A	ENST00000370150.1	-	4	436	c.258C>T	c.(256-258)ctC>ctT	p.L86L	PNCK_ENST00000340888.3_Silent_p.L86L|PNCK_ENST00000393831.2_Silent_p.L86L|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000370145.4_Silent_p.L103L|PNCK_ENST00000447676.2_Silent_p.L169L|PNCK_ENST00000370142.1_Silent_p.L86L			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	86	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.L86L(1)|p.L103L(1)|p.L115L(1)		breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGCCAGGTAGAGGTGGGAAG	0.637																																						ENST00000393831.2																			3	Substitution - coding silent(3)	p.L86L(1)|p.L103L(1)|p.L115L(1)	breast(3)	breast(2)|lung(3)|skin(1)	6						c.(256-258)ctC>ctT		pregnancy up-regulated nonubiquitous CaM kinase							95	70	79					X																	152937598		2203	4300	6503	SO:0001819	synonymous_variant	139728					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chrX:152937598G>A	BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"pregnancy upregulated non-ubiquitously expressed CaM kinase", "pregnancy up-regulated non-ubiquitously expressed CaM kinase"			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.258C>T	X.37:g.152937598G>A						PNCK_ENST00000370145.4_Silent_p.L103L|PNCK_ENST00000370150.1_Silent_p.L86L|PNCK_ENST00000340888.3_Silent_p.L86L|PNCK_ENST00000447676.2_Silent_p.L169L|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000370142.1_Silent_p.L86L	p.L86L	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN			4	692	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		86			Protein kinase.		B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Silent	SNP	ENST00000370150.1	37	c.258C>T		.	.	.	.	.	.	.	.	.	.	g	13.13	2.146238	0.37923	.	.	ENSG00000130822	ENST00000418241	T	0.52295	0.67	5.01	-3.36	0.04913	.	.	.	.	.	T	0.49150	0.1540	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53201	-0.8472	6	0.87932	D	0	-15.5739	6.7283	0.23369	0.1524:0.5789:0.1666:0.1021	.	.	.	.	F	93	ENSP00000411267:S93F	ENSP00000391264:S76F	S	-	2	0	PNCK	152590792	0.316000	0.24580	0.856000	0.33681	0.891000	0.51852	-0.357000	0.07651	-0.966000	0.03587	-1.192000	0.01694	TCT		0.637	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452		6	22	0	0	0	0.001984	0	6	22					A	152937598	G	A	152937598	2	1	29	1	0	0	0	0	0	0	0	1	12145	929	33	2		2	PNCK	23	152937598	Silent	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08	52389744	152937598	2332962	47	807											
CACHD1	57685	broad.mit.edu	37	chr1	65113681	65113681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accggatgattgatgaagccGtcttcagcctgcccttctct	9	13	3	3	rs201086698		TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr1:65113681G>A	ENST00000371073.2	+	9	1354	c.1354G>A	c.(1354-1356)Gtc>Atc	p.V452I	CACHD1_ENST00000290039.5_Missense_Mutation_p.V401I|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	452					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TGATGAAGCCGTCTTCAGCCT	0.488																																						ENST00000371073.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(1354-1356)Gtc>Atc		cache domain containing 1							69	58	61					1																	65113681		2203	4300	6503	SO:0001583	missense	57685				calcium ion transport	integral to membrane		g.chr1:65113681G>A	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"von Willebrand factor type A and cache domain containing 1"	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.1354G>A	1.37:g.65113681G>A	ENSP00000360113:p.Val452Ile					CACHD1_ENST00000290039.5_Missense_Mutation_p.V401I|CACHD1_ENST00000495994.1_3'UTR	p.V452I			Q5VU97	CAHD1_HUMAN			9	1354	+			452					Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37	c.1354G>A		.	.	.	.	.	.	.	.	.	.	G	10.12	1.261791	0.23051	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.24151	1.87;1.88	5.38	5.38	0.77491	.	0.222920	0.47093	D	0.000253	T	0.06735	0.0172	N	0.08118	0	0.43330	D	0.995369	B	0.28208	0.203	B	0.20184	0.028	T	0.19778	-1.0295	10	0.17832	T	0.49	-27.9678	19.1392	0.93441	0.0:0.0:1.0:0.0	.	452	Q5VU97	CAHD1_HUMAN	I	452;401	ENSP00000360113:V452I;ENSP00000290039:V401I	ENSP00000290039:V401I	V	+	1	0	CACHD1	64886269	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	4.695000	0.61767	2.512000	0.84698	0.561000	0.74099	GTC		0.488	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		3	26	0	0	0	0.004672	0	3	26					A	65113681	G	A	65113681	3	1	30	1	0	0	0	0	1	0	0	0	2537	1145	40	1	1235	1	CACHD1	1	65113681	Missense_Mutation	SNP	G	TCGA-BJ-A2P4-01A-11D-A18F-08		65113681	184136940	1	808											
ADCY10	55811	broad.mit.edu	37	chr1	167829094	167829094	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaattgtttttgctttttcAaggtgctcatcctggaaatc	7	9	2	0			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr1:167829094A>G	ENST00000367851.4	-	16	2031	c.1847T>C	c.(1846-1848)tTg>tCg	p.L616S	ADCY10_ENST00000367848.1_Missense_Mutation_p.L524S|ADCY10_ENST00000545172.1_Missense_Mutation_p.L463S	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	616					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTGCTTTTTCAAGGTGCTCAT	0.393																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(1570-1572)tTg>tCg		adenylate cyclase 10 (soluble)							157	163	161					1																	167829094		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167829094A>G	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.1847T>C	1.37:g.167829094A>G	ENSP00000356825:p.Leu616Ser					ADCY10_ENST00000545172.1_Missense_Mutation_p.L463S|ADCY10_ENST00000367851.4_Missense_Mutation_p.L616S	p.L524S			Q96PN6	ADCYA_HUMAN			16	2068	-			616					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.1571T>C	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	A	0.150	-1.092873	0.01858	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.62498	0.02;0.02;0.02	5.4	-5.73	0.02398	.	1.525520	0.03594	N	0.232275	T	0.22244	0.0536	L	0.43152	1.355	0.24027	N	0.996124	B;B;B	0.14438	0.01;0.01;0.006	B;B;B	0.15052	0.012;0.005;0.002	T	0.04678	-1.0934	9	0.07990	T	0.79	0.7408	7.3024	0.26428	0.4131:0.0:0.4646:0.1223	.	463;524;616	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	S	463;616;524	ENSP00000441992:L463S;ENSP00000356825:L616S;ENSP00000356822:L524S	ENSP00000356822:L524S	L	-	2	0	ADCY10	166095718	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.138000	0.10374	-0.823000	0.04301	-0.912000	0.02778	TTG		0.393	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		4	174	0	0	0	0.014758	0	4	174					G	167829094	A	G	167829094	3	3	30	1	0	0	0	0	1	0	0	0	293	131	5	3	3057	3	ADCY10	1	167829094	Missense_Mutation	SNP	A	TCGA-BJ-A2P4-01A-11D-A18F-08	102715413	167829094	81421527	2	809											
POLR1B	84172	broad.mit.edu	37	chr2	113332659	113332661	+	In_Frame_Del	DEL	CCA	CCA	-													tgttcaatccccatggttttCcatcccgcatgaccattggg							TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr2:113332659_113332661delCCA	ENST00000263331.5	+	15	3341_3343	c.2761_2763delCCA	c.(2761-2763)ccadel	p.P921del	POLR1B_ENST00000537335.1_In_Frame_Del_p.P710del|POLR1B_ENST00000417433.2_In_Frame_Del_p.P865del|POLR1B_ENST00000409894.3_In_Frame_Del_p.P738del|POLR1B_ENST00000541869.1_In_Frame_Del_p.P959del	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	921					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						CCATGGTTTTCCATCCCGCATGA	0.507																																					Ovarian(16;256 576 9537 23969 41147)	ENST00000263331.5																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(2761-2763)del		polymerase (RNA) I polypeptide B, 128kDa																																				SO:0001651	inframe_deletion	84172				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr2:113332659_113332661delCCA	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"RNA polymerase subunits"	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.2761_2763delCCA	2.37:g.113332659_113332661delCCA	ENSP00000263331:p.Pro921del					POLR1B_ENST00000409894.3_In_Frame_Del_p.P738del|POLR1B_ENST00000537335.1_In_Frame_Del_p.P710del|POLR1B_ENST00000541869.1_In_Frame_Del_p.P959del|POLR1B_ENST00000417433.2_In_Frame_Del_p.P865del	p.P921del	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN			15	3341_3343	+			921					B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	In_Frame_Del	DEL	ENST00000263331.5	37	c.2761_2763delCCA	CCDS2097.1																																																																																				0.507	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		40	88						40	88	---	---	---	---	-	113332661	CCA	-	113332659	7	5	30	1	0	1	0	1	0	0	0	0	12210	855	30	0	2819	0	POLR1B	2	113332659	In_Frame_Del	DEL	CCA	TCGA-BJ-A2P4-01A-11D-A18F-08		113332659	129866714	3	810											
LCT	3938	broad.mit.edu	37	chr2	136567521	136567521	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaagccatcaatgagggaaCgagcaatgtaggaacgaaca	12	8	1	1	rs565990613		TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr2:136567521C>T	ENST00000264162.2	-	8	2406	c.2396G>A	c.(2395-2397)cGt>cAt	p.R799H	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	799	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	AATGAGGGAACGAGCAATGTA	0.438													C|||	1	0.000199681	0	0	5008	,	,		19434	0		0	False		,,,				2504	0.001					ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(2395-2397)cGt>cAt		lactase							57	58	58					2																	136567521		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136567521C>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2396G>A	2.37:g.136567521C>T	ENSP00000264162:p.Arg799His						p.R799H	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	2406	-			799			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.2396G>A	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378574	0.61735	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.50277	0.75	5.71	4.82	0.62117	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.182021	0.49916	D	0.000124	T	0.64832	0.2634	M	0.70595	2.14	0.46167	D	0.998908	D	0.67145	0.996	D	0.65987	0.94	T	0.63466	-0.6631	10	0.44086	T	0.13	-15.3064	14.4898	0.67642	0.0:0.9297:0.0:0.0703	.	799	P09848	LPH_HUMAN	H	799;231	ENSP00000264162:R799H	ENSP00000264162:R799H	R	-	2	0	LCT	136283991	0.998000	0.40836	1.000000	0.80357	0.675000	0.39556	2.829000	0.48128	2.868000	0.98415	0.557000	0.71058	CGT		0.438	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		23	47	0	0	0	0.062417	0	23	47					T	136567521	C	T	136567521	3	4	30	1	0	0	0	0	1	0	0	0	8693	536	19	1	3427	1	LCT	2	136567521	Missense_Mutation	SNP	C	TCGA-BJ-A2P4-01A-11D-A18F-08	23234862	136567521	106631852	4	811											
AP3B1	8546	broad.mit.edu	37	chr5	77452179	77452179	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttataacaaccacactttcaGcaacaactatttctgaaaaa	2	10	2	1			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr5:77452179G>C	ENST00000255194.6	-	14	1551	c.1376C>G	c.(1375-1377)gCt>gGt	p.A459G	AP3B1_ENST00000519295.1_Missense_Mutation_p.A410G	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	459					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		CACACTTTCAGCAACAACTAT	0.294									Hermansky-Pudlak syndrome																													ENST00000255194.6																			0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39						c.(1375-1377)gCt>gGt		adaptor-related protein complex 3, beta 1 subunit							116	113	114					5																	77452179		2202	4299	6501	SO:0001583	missense	8546	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77452179G>C	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.1376C>G	5.37:g.77452179G>C	ENSP00000255194:p.Ala459Gly					AP3B1_ENST00000519295.1_Missense_Mutation_p.A410G	p.A459G	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	14	1551	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	459					E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	ENST00000255194.6	37	c.1376C>G	CCDS4041.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.798016	0.70567	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	T;T	0.27720	1.65;1.65	5.38	5.38	0.77491	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.32912	0.0845	L	0.45352	1.415	0.80722	D	1	B	0.23990	0.095	B	0.28011	0.085	T	0.06285	-1.0835	10	0.45353	T	0.12	-20.4636	19.4893	0.95044	0.0:0.0:1.0:0.0	.	459	O00203	AP3B1_HUMAN	G	459;410;459;363	ENSP00000255194:A459G;ENSP00000430597:A410G	ENSP00000255194:A459G	A	-	2	0	AP3B1	77487935	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.767000	0.98960	2.676000	0.91093	0.563000	0.77884	GCT		0.294	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			27	43	0	0	0	0.030593	0	27	43					C	77452179	G	C	77452179	3	2	30	1	0	0	0	0	1	0	0	0	744	971	34	4	1964	4	AP3B1	5	77452179	Missense_Mutation	SNP	G	TCGA-BJ-A2P4-01A-11D-A18F-08		77452179	103463081	5	812											
PCDHB6	56130	broad.mit.edu	37	chr5	140531461	140531461	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctccccggcgttgagcagCgaggcgctggtgcgcttgct	17	13	0	1	rs61730259	byFrequency	TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr5:140531461C>A	ENST00000231136.1	+	1	1623	c.1623C>A	c.(1621-1623)agC>agA	p.S541R	PCDHB6_ENST00000543635.1_Missense_Mutation_p.S405R	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	541	Cadherin 5. {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)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTTGAGCAGCGAGGCGCTGG	0.682																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(1621-1623)agC>agA									50	57	54					5																	140531461		2202	4299	6501	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531461C>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1623C>A	5.37:g.140531461C>A	ENSP00000231136:p.Ser541Arg					PCDHB6_ENST00000543635.1_Missense_Mutation_p.S405R	p.S541R	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1623	+			541			Cadherin 5.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.1623C>A	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.216834	0.58452	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.54866	0.55;0.55	4.19	4.19	0.49359	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.75759	0.3893	M	0.93420	3.415	0.29907	N	0.823909	D	0.71674	0.998	D	0.78314	0.991	T	0.73658	-0.3913	9	0.72032	D	0.01	.	6.846	0.23988	0.1755:0.7348:0.0:0.0897	rs61730259	541	Q9Y5E3	PCDB6_HUMAN	R	405;541;326	ENSP00000438466:S405R;ENSP00000231136:S541R	ENSP00000231136:S541R	S	+	3	2	PCDHB6	140511645	0.003000	0.15002	1.000000	0.80357	0.941000	0.58515	0.271000	0.18626	2.047000	0.60756	0.556000	0.70494	AGC		0.682	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		3	102	1	0	0.004672	0.004672	0.00568216	3	102					A	140531461	C	A	140531461	3	1	30	1	0	0	0	0	1	0	0	0	11546	767	27	4	1625	4	PCDHB6	5	140531461	Missense_Mutation	SNP	C	TCGA-BJ-A2P4-01A-11D-A18F-08	63079282	140531461	40383799	6	813											
MUC17	140453	broad.mit.edu	37	chr7	100679466	100679466	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctggtggtcagttctgaggCtaacaccctttcaacaaccc	9	13	3	1			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr7:100679466C>A	ENST00000306151.4	+	3	4833	c.4769C>A	c.(4768-4770)gCt>gAt	p.A1590D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1590	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGTTCTGAGGCTAACACCCTT	0.488																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(4768-4770)gCt>gAt		mucin 17, cell surface associated							245	231	236					7																	100679466		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679466C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4769C>A	7.37:g.100679466C>A	ENSP00000302716:p.Ala1590Asp						p.A1590D	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	4833	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1590			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4769C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	1.645	-0.515478	0.04200	.	.	ENSG00000169876	ENST00000306151	T	0.02787	4.16	0.815	-0.289	0.12851	.	.	.	.	.	T	0.01558	0.0050	L	0.29908	0.895	0.09310	N	1	P	0.42993	0.797	B	0.31686	0.134	T	0.46233	-0.9206	9	0.15499	T	0.54	.	3.3888	0.07281	0.0:0.6743:0.0:0.3257	.	1590	Q685J3	MUC17_HUMAN	D	1590	ENSP00000302716:A1590D	ENSP00000302716:A1590D	A	+	2	0	MUC17	100466186	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-1.101000	0.03336	-0.071000	0.12886	0.089000	0.15464	GCT		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		83	173	1	0	6.11987e-43	0.048971	7.86841e-43	83	173					A	100679466	C	A	100679466	3	1	30	1	0	0	0	0	1	0	0	0	9974	797	28	4	4779	4	MUC17	7	100679466	Missense_Mutation	SNP	C	TCGA-BJ-A2P4-01A-11D-A18F-08		100679466	58459197	7	814											
SLA	6503	broad.mit.edu	37	chr8	134062170	134062170	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtaaactctggccacacaTattccagggatgtaactctc	8	11	2	0			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr8:134062170T>C	ENST00000338087.5	-	5	1044	c.225A>G	c.(223-225)atA>atG	p.I75M	SLA_ENST00000427060.2_Missense_Mutation_p.I115M|SLA_ENST00000395352.3_Missense_Mutation_p.I92M|TG_ENST00000519543.1_Intron|SLA_ENST00000518565.1_5'UTR|TG_ENST00000542445.1_Intron|TG_ENST00000220616.4_Intron|TG_ENST00000377869.1_Intron|SLA_ENST00000517648.1_Missense_Mutation_p.I92M|SLA_ENST00000524345.1_De_novo_Start_InFrame	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	75	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of signal transduction (GO:0009967)	endosome (GO:0005768)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			TGGCCACACATATTCCAGGGA	0.448																																						ENST00000338087.5																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17						c.(223-225)atA>atG		Src-like-adaptor							146	122	130					8																	134062170		2203	4300	6503	SO:0001583	missense	6503					endosome	SH3/SH2 adaptor activity	g.chr8:134062170T>C		CCDS6370.1, CCDS47922.1, CCDS47923.1, CCDS64977.1, CCDS64978.1	8q24.22	2013-09-19	2001-11-28		ENSG00000155926	ENSG00000155926		"SH2 domain containing"	10902	protein-coding gene	gene with protein product		601099	"Src-like-adapter"			8825655, 11179692	Standard	NM_001045556		Approved	SLA1	uc011ljd.2	Q13239	OTTHUMG00000164439	ENST00000338087.5:c.225A>G	8.37:g.134062170T>C	ENSP00000337548:p.Ile75Met					SLA_ENST00000395352.3_Missense_Mutation_p.I92M|SLA_ENST00000524345.1_De_novo_Start_InFrame|TG_ENST00000220616.4_Intron|SLA_ENST00000518565.1_5'UTR|TG_ENST00000377869.1_Intron|TG_ENST00000519543.1_Intron|SLA_ENST00000427060.2_Missense_Mutation_p.I115M|TG_ENST00000542445.1_Intron|SLA_ENST00000517648.1_Missense_Mutation_p.I92M	p.I75M	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)		5	1044	-	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	75			SH3.		B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8	Missense_Mutation	SNP	ENST00000338087.5	37	c.225A>G	CCDS6370.1	.	.	.	.	.	.	.	.	.	.	T	14.26	2.483787	0.44147	.	.	ENSG00000155926	ENST00000338087;ENST00000427060;ENST00000395352;ENST00000517648;ENST00000522119;ENST00000519341	T;T;T;D;D;T	0.92446	-1.1;-1.04;-1.04;-3.04;-3.04;1.3	5.65	-5.65	0.02459	Src homology-3 domain (3);	0.280041	0.45867	N	0.000333	T	0.80253	0.4589	N	0.19112	0.55	0.25246	N	0.989716	B;B;B;B;B;B	0.10296	0.001;0.003;0.003;0.0;0.0;0.003	B;B;B;B;B;B	0.08055	0.003;0.002;0.003;0.0;0.002;0.002	T	0.65594	-0.6130	10	0.48119	T	0.1	-10.0352	7.3237	0.26542	0.0:0.248:0.4556:0.2964	.	92;75;75;75;75;75	B7Z4J2;Q6FI01;Q5TZW1;E5RHT2;E5RJ69;Q13239	.;.;.;.;.;SLAP1_HUMAN	M	75;115;92;92;75;75	ENSP00000337548:I75M;ENSP00000394049:I115M;ENSP00000378759:I92M;ENSP00000428559:I92M;ENSP00000430596:I75M;ENSP00000429681:I75M	ENSP00000337548:I75M	I	-	3	3	SLA	134131352	0.971000	0.33674	0.908000	0.35775	0.940000	0.58332	-0.038000	0.12144	-0.870000	0.04047	-0.313000	0.08912	ATA		0.448	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378771.1			22	33	0	0	0	0.0918	0	22	33					C	134062170	T	C	134062170	3	2	30	1	0	0	0	0	1	0	0	0	14363	1396	49	3	625	3	SLA	8	134062170	Missense_Mutation	SNP	T	TCGA-BJ-A2P4-01A-11D-A18F-08		134062170	12301852	8	815											
TMEM38B	55151	broad.mit.edu	37	chr9	108510354	108510354	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatgtgttttattttcagCcctgccaaggtaaccctgct	7	10	1	0			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr9:108510354C>T	ENST00000374692.3	+	5	660	c.543C>T	c.(541-543)taC>taT	p.Y181Y	TMEM38B_ENST00000374688.1_Splice_Site_p.Y127Y	NM_018112.1	NP_060582.1	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	181						integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						TTATTTTCAGCCCTGCCAAGG	0.363																																						ENST00000374688.1																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						c.e5-1		transmembrane protein 38B							82	77	78					9																	108510354		2203	4300	6503	SO:0001630	splice_region_variant	55151					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr9:108510354C>T	BC031938	CCDS6768.1	9q31.3	2013-05-23	2004-12-21	2004-12-22	ENSG00000095209	ENSG00000095209			25535	protein-coding gene	gene with protein product		611236	"chromosome 9 open reading frame 87"	C9orf87		17611541, 23316006	Standard	NM_018112		Approved	FLJ10493, bA219P18.1, D4Ertd89e, TRIC-B	uc004bcu.2	Q9NVV0	OTTHUMG00000020429	ENST00000374692.3:c.543-1C>T	9.37:g.108510354C>T						TMEM38B_ENST00000374692.3_Splice_Site_p.Y181_splice	p.Y127_splice			Q9NVV0	TM38B_HUMAN			5	1091	+			181					Q5JR63|Q5SVN5|Q5SVN6|Q5VTE2|Q6IA97	Splice_Site	SNP	ENST00000374692.3	37	c.380_splice	CCDS6768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.19|12.19	1.862475|1.862475	0.32884|0.32884	.|.	.|.	ENSG00000095209|ENSG00000095209	ENST00000451560|ENST00000435034	.|.	.|.	.|.	5.57|5.57	3.36|3.36	0.38483|0.38483	.|.	.|.	.|.	.|.	.|.	T|T	0.57417|0.57417	0.2052|0.2052	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.54255|0.54255	-0.8321|-0.8321	4|4	.|.	.|.	.|.	.|.	8.5321|8.5321	0.33340|0.33340	0.0:0.7759:0.0:0.2241|0.0:0.7759:0.0:0.2241	.|.	.|.	.|.	.|.	S|I	42|118	.|.	.|.	P|T	+|+	1|2	0|0	TMEM38B|TMEM38B	107550175|107550175	0.989000|0.989000	0.36119|0.36119	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	0.236000|0.236000	0.17967|0.17967	1.486000|1.486000	0.48398|0.48398	0.591000|0.591000	0.81541|0.81541	CCC|ACC		0.363	TMEM38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053517.1	NM_018112	Silent	4	58	0	0	0	0.009096	0	4	58					T	108510354	C	T	108510354	5	4	30	1	0	0	0	0	0	0	1	0	16157	753	26	2	561	2	TMEM38B	9	108510354	Splice_Site	SNP	C	TCGA-BJ-A2P4-01A-11D-A18F-08		108510354	32703077	9	816											
TMEM8C	389827	broad.mit.edu	37	chr9	136379889	136379890	+	Frame_Shift_Ins	INS	-	-	G													cagtggtagaagctgtggacINSataagtgtagtcccagtcct					rs17758315	byFrequency	TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr9:136379889_136379890insG	ENST00000339996.3	-	5	635_636	c.534_535insC	c.(532-537)tatgtcfs	p.V179fs	TMEM8C_ENST00000413714.1_5'Flank	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	179					muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|plasma membrane fusion (GO:0045026)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						AAGCTGTGGACATAAGTGTAGT	0.634																																						ENST00000339996.3																			0				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						c.(532-537)tatccafs		transmembrane protein 8C																																				SO:0001589	frameshift_variant	389827					integral to membrane		g.chr9:136379889_136379890insG	BX324209	CCDS35170.1	9q34.2	2009-06-19		2009-06-19	ENSG00000187616	ENSG00000187616			33778	protein-coding gene	gene with protein product	"transmembrane protein 226"	615345					Standard	NM_001080483		Approved	TMEM226	uc011mdk.2	A6NI61	OTTHUMG00000131685	ENST00000339996.3:c.534_535insC	9.37:g.136379889_136379890insG	ENSP00000419712:p.Val179fs						p.P179fs	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN			5	635_636	-			179						Frame_Shift_Ins	INS	ENST00000339996.3	37	c.534_535insC	CCDS35170.1																																																																																				0.634	TMEM8C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356200.2	NM_001080483		11	46						11	46	---	---	---	---	G	136379890	-	G	136379889	7	5	30	1	0	1	1	0	0	0	0	0	16213	478	17	0	134	0	TMEM8C	9	136379889	Frame_Shift_Ins	INS	-	TCGA-BJ-A2P4-01A-11D-A18F-08	27869535	136379889	4833542	10	817											
GPRIN2	9721	broad.mit.edu	37	chr10	46999058	46999058	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgaggccagcaccagacccCaggccccggaggaagagggg	17	14	0	2			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr10:46999058C>T	ENST00000374317.1	+	3	451	c.178C>T	c.(178-180)Cag>Tag	p.Q60*	GPRIN2_ENST00000374314.4_Nonsense_Mutation_p.Q60*	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	60										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CACCAGACCCCAGGCCCCGGA	0.701																																						ENST00000374314.4																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						c.(178-180)Cag>Tag		G protein regulated inducer of neurite outgrowth 2							29	37	34					10																	46999058		2200	4293	6493	SO:0001587	stop_gained	9721							g.chr10:46999058C>T	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"KIAA0514"	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.178C>T	10.37:g.46999058C>T	ENSP00000363436:p.Gln60*					GPRIN2_ENST00000374317.1_Nonsense_Mutation_p.Q60*	p.Q60*			O60269	GRIN2_HUMAN			1	1133	+			60					Q5SVF0	Nonsense_Mutation	SNP	ENST00000374317.1	37	c.178C>T	CCDS31192.1	.	.	.	.	.	.	.	.	.	.	C	40	8.441494	0.98813	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	.	.	.	5.64	1.24	0.21308	.	1.100880	0.07001	N	0.823335	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-0.1473	4.7021	0.12832	0.135:0.4503:0.3315:0.0833	.	.	.	.	X	60	.	ENSP00000363433:Q60X	Q	+	1	0	GPRIN2	46419064	0.000000	0.05858	0.003000	0.11579	0.018000	0.09664	0.133000	0.15912	0.337000	0.23665	0.650000	0.86243	CAG		0.701	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		12	54	0	0	0	0.080935	0	12	54					T	46999058	C	T	46999058	4	4	30	1	0	0	0	0	0	1	0	0	6730	595	21	2	180	2	GPRIN2	10	46999058	Nonsense_Mutation	SNP	C	TCGA-BJ-A2P4-01A-11D-A18F-08		46999058	88535689	11	818											
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	14	13	0	0	rs121913233		TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117	102	107					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)				HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R	p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		33	53	0	0	0	0.064281	0	33	53					C	533874	T	C	533874	3	2	30	1	0	0	0	0	1	0	0	0	7348	1580	55	3	466	3	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-BJ-A2P4-01A-11D-A18F-08		533874	134472642	12	819											
FLI1	2313	broad.mit.edu	37	chr11	128642762	128642762	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgatggagatcgacacatcCtttttccagaacatggatgg	10	8	0	3			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr11:128642762C>T	ENST00000527786.2	+	4	960	c.471C>T	c.(469-471)tcC>tcT	p.S157S	FLI1_ENST00000344954.6_Silent_p.S124S|FLI1_ENST00000525560.1_Intron|FLI1_ENST00000534087.2_Silent_p.S124S|FLI1_ENST00000281428.8_Silent_p.S91S	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	157	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		TCGACACATCCTTTTTCCAGA	0.522			T	EWSR1	Ewing sarcoma																																	ENST00000344954.6				Dom	yes		11	11q24	2313	T	Friend leukemia virus integration 1			M	EWSR1		Ewing sarcoma	EWSR1/FLI1(2569)	0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31						c.(370-372)tcC>tcT		Fli-1 proto-oncogene, ETS transcription factor							210	218	215					11																	128642762		2118	4237	6355	SO:0001819	synonymous_variant	2313				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:128642762C>T	M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"Friend leukemia virus integration 1"			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.471C>T	11.37:g.128642762C>T						FLI1_ENST00000429175.2_Silent_p.S157S|FLI1_ENST00000281428.8_Silent_p.S91S|FLI1_ENST00000534087.1_Silent_p.S124S|FLI1_ENST00000525560.1_Intron	p.S124S			Q01543	FLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)	4	760	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)	157			PNT.		B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Silent	SNP	ENST00000527786.2	37	c.372C>T	CCDS44768.1																																																																																				0.522	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		4	172	0	0	0	0.009096	0	4	172					T	128642762	C	T	128642762	2	4	30	1	0	0	0	0	0	0	0	1	5924	668	24	2		2	FLI1	11	128642762	Silent	SNP	C	TCGA-BJ-A2P4-01A-11D-A18F-08	128108888	128642762	6363754	13	820											
CAPZA3	93661	broad.mit.edu	37	chr12	18891209	18891209	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttgcaaccaaacatgacaCttagcgtgctgagcaggaag	11	9	0	2			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr12:18891209C>A	ENST00000317658.3	+	1	165	c.7C>A	c.(7-9)Ctt>Att	p.L3I	PLCZ1_ENST00000435379.1_5'Flank|PLCZ1_ENST00000539875.1_5'Flank|PLCZ1_ENST00000447925.2_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000266505.7_5'Flank	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	3					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)		p.L3V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AAACATGACACTTAGCGTGCT	0.438																																						ENST00000317658.3																			1	Substitution - Missense(1)	p.L3V(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19						c.(7-9)Ctt>Att		capping protein (actin filament) muscle Z-line, alpha 3							82	80	80					12																	18891209		2203	4299	6502	SO:0001583	missense	93661				actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	g.chr12:18891209C>A	AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.7C>A	12.37:g.18891209C>A	ENSP00000326238:p.Leu3Ile						p.L3I	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN			1	165	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)	3					Q969J0	Missense_Mutation	SNP	ENST00000317658.3	37	c.7C>A	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	C	9.931	1.214819	0.22373	.	.	ENSG00000177938	ENST00000317658	.	.	.	5.31	4.35	0.52113	.	0.466123	0.19910	N	0.103315	T	0.22704	0.0548	N	0.08118	0	0.18873	N	0.999987	B	0.20052	0.041	B	0.16722	0.016	T	0.08659	-1.0711	9	0.40728	T	0.16	-9.6728	10.264	0.43445	0.2104:0.7896:0.0:0.0	.	3	Q96KX2	CAZA3_HUMAN	I	3	.	ENSP00000326238:L3I	L	+	1	0	CAPZA3	18782476	0.095000	0.21747	0.958000	0.39756	0.469000	0.32828	0.732000	0.26072	2.763000	0.94921	0.563000	0.77884	CTT		0.438	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328		5	89	1	0	3.59834e-05	0.021553	4.49792e-05	5	89					A	18891209	C	A	18891209	3	1	30	1	0	0	0	0	1	0	0	0	2642	565	20	4	9	4	CAPZA3	12	18891209	Missense_Mutation	SNP	C	TCGA-BJ-A2P4-01A-11D-A18F-08		18891209	114960686	14	821											
C12orf51	283450	broad.mit.edu	37	chr12	112600941	112600941	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggcaggtgaacgggatgCgctcctggttgcaggcaaac	17	9	0	1			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr12:112600941C>T	ENST00000430131.2	-	74	12904	c.11759G>A	c.(11758-11760)cGc>cAc	p.R3920H	HECTD4_ENST00000377560.5_Missense_Mutation_p.R4170H|HECTD4_ENST00000549141.1_5'Flank|HECTD4_ENST00000550722.1_Missense_Mutation_p.R4196H			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3920	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R4170H(1)|p.R3920H(1)									GAACGGGATGCGCTCCTGGTT	0.612																																						ENST00000550722.1																			2	Substitution - Missense(2)	p.R4170H(1)|p.R3920H(1)	large_intestine(2)								c.(12586-12588)cGc>cAc		HECT domain containing E3 ubiquitin protein ligase 4							97	110	106					12																	112600941		2080	4205	6285	SO:0001583	missense	283450							g.chr12:112600941C>T	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.11759G>A	12.37:g.112600941C>T	ENSP00000404379:p.Arg3920His					HECTD4_ENST00000377560.5_Missense_Mutation_p.R4170H|HECTD4_ENST00000430131.2_Missense_Mutation_p.R3920H	p.R4196H	NM_001109662.3	NP_001103132.3					75	12982	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.12587G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.491109	0.96339	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722;ENST00000547085	T;T;T	0.63580	-0.05;-0.05;-0.05	5.8	5.8	0.92144	HECT (4);	0.000000	0.85682	D	0.000000	D	0.83027	0.5165	M	0.87827	2.91	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.85041	0.0923	10	0.87932	D	0	.	20.0537	0.97638	0.0:1.0:0.0:0.0	.	3920	Q9Y4D8	K0614_HUMAN	H	4170;3920;4196;385	ENSP00000366783:R4170H;ENSP00000404379:R3920H;ENSP00000449784:R4196H	ENSP00000366783:R4170H	R	-	2	0	C12orf51	111085324	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.372000	0.79612	2.758000	0.94735	0.561000	0.74099	CGC		0.612	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		4	103	0	0	0	0.009096	0	4	103					T	112600941	C	T	112600941	3	4	30	1	0	0	0	0	1	0	0	0	1696	768	27	1	239	1	C12orf51	12	112600941	Missense_Mutation	SNP	C	TCGA-BJ-A2P4-01A-11D-A18F-08	93709732	112600941	21250954	15	822											
ARHGEF7	8874	broad.mit.edu	37	chr13	111862267	111862267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccggccctcgtctcaccGcataaagtcttttgactccc	7	17	2	1			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr13:111862267G>A	ENST00000375741.2	+	5	699	c.449G>A	c.(448-450)cGc>cAc	p.R150H	ARHGEF7_ENST00000375723.1_5'UTR|ARHGEF7_ENST00000370623.3_Intron|ARHGEF7_ENST00000375736.4_5'UTR|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.R100H|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.R129H|ARHGEF7_ENST00000218789.5_5'UTR|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.R47H|ARHGEF7_ENST00000426073.2_5'UTR	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	150					apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TCGTCTCACCGCATAAAGTCT	0.517																																						ENST00000375741.2																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41						c.(448-450)cGc>cAc		Rho guanine nucleotide exchange factor (GEF) 7							184	178	180					13																	111862267		2203	4300	6503	SO:0001583	missense	8874				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:111862267G>A	D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	15607	protein-coding gene	gene with protein product	"SH3 domain-containing proline-rich protein", "PAK-interacting exchange factor beta", "rho", "guanine nucleotide exchange factor 7"	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.449G>A	13.37:g.111862267G>A	ENSP00000364893:p.Arg150His					ARHGEF7_ENST00000426073.2_5'UTR|ARHGEF7_ENST00000375736.4_5'UTR|ARHGEF7_ENST00000375723.1_5'UTR|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.R100H|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.R47H|ARHGEF7_ENST00000370623.3_Intron|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.R129H|ARHGEF7_ENST00000218789.5_5'UTR|ARHGEF7_ENST00000544132.1_Intron	p.R150H	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		5	699	+	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		150					B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000375741.2	37	c.449G>A	CCDS45068.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152947	0.57259	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000545635;ENST00000426768;ENST00000375737	T;T;T;T;T	0.53206	0.64;0.63;0.67;0.85;0.65	5.39	5.39	0.77823	Calponin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.58148	0.2102	L	0.29908	0.895	0.80722	D	1	B;D;P;P	0.76494	0.016;0.999;0.597;0.719	B;D;B;B	0.65010	0.014;0.931;0.047;0.148	T	0.60717	-0.7208	10	0.66056	D	0.02	.	19.5049	0.95111	0.0:0.0:1.0:0.0	.	47;100;150;129	B7Z6G2;Q14155-2;Q14155;Q14155-3	.;.;ARHG7_HUMAN;.	H	129;150;100;127;47;47	ENSP00000325994:R129H;ENSP00000364893:R150H;ENSP00000364891:R100H;ENSP00000389890:R47H;ENSP00000364889:R47H	ENSP00000325994:R129H	R	+	2	0	ARHGEF7	110660268	1.000000	0.71417	0.691000	0.30163	0.414000	0.31173	8.953000	0.93041	2.677000	0.91161	0.655000	0.94253	CGC		0.517	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511		5	135	0	0	0	0.014758	0	5	135					A	111862267	G	A	111862267	3	1	30	1	0	0	0	0	1	0	0	0	911	1087	38	1	467	1	ARHGEF7	13	111862267	Missense_Mutation	SNP	G	TCGA-BJ-A2P4-01A-11D-A18F-08		111862267	3307611	16	823											
KIAA1409	57578	broad.mit.edu	37	chr14	94079271	94079271	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccaaggatgaaagcagcGctgagtcagacatcagcagt	13	9	2	3			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr14:94079271G>A	ENST00000393151.2	+	27	3883	c.3883G>A	c.(3883-3885)Gct>Act	p.A1295T	UNC79_ENST00000555664.1_Missense_Mutation_p.A1295T|UNC79_ENST00000553484.1_Missense_Mutation_p.A1317T|UNC79_ENST00000256339.4_Missense_Mutation_p.A1118T			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1295					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGAAAGCAGCGCTGAGTCAGA	0.527																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(3949-3951)Gct>Act		unc-79 homolog (C. elegans)							130	108	116					14																	94079271		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94079271G>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.3883G>A	14.37:g.94079271G>A	ENSP00000376858:p.Ala1295Thr					UNC79_ENST00000256339.4_Missense_Mutation_p.A1118T|UNC79_ENST00000393151.2_Missense_Mutation_p.A1295T|UNC79_ENST00000555664.1_Missense_Mutation_p.A1295T	p.A1317T			Q9P2D8	UNC79_HUMAN			28	4103	+			1295					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.3949G>A		.	.	.	.	.	.	.	.	.	.	G	14.79	2.640753	0.47153	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.18502	2.21;2.21;2.22;2.21	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.29190	0.0726	N	0.22421	0.69	0.54753	D	0.999987	D	0.89917	1.0	D	0.79108	0.992	T	0.03423	-1.1038	10	0.22706	T	0.39	-15.2766	19.5316	0.95231	0.0:0.0:1.0:0.0	.	1317	C9JQL1	.	T	1118;1295;1317;1295;1317	ENSP00000256339:A1118T;ENSP00000450868:A1295T;ENSP00000451360:A1317T;ENSP00000376858:A1295T	ENSP00000256339:A1118T	A	+	1	0	KIAA1409	93149024	1.000000	0.71417	0.702000	0.30337	0.788000	0.44548	7.863000	0.87023	2.617000	0.88574	0.650000	0.86243	GCT		0.527	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		22	38	0	0	0	0.076483	0	22	38					A	94079271	G	A	94079271	3	1	30	1	0	0	0	0	1	0	0	0	8230	1087	38	1	3446	1	KIAA1409	14	94079271	Missense_Mutation	SNP	G	TCGA-BJ-A2P4-01A-11D-A18F-08		94079271	13270269	17	824											
TECPR2	9895	broad.mit.edu	37	chr14	102901026	102901026	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggacagctctcctggggcGcatgatggggaagacatcca	14	11	1	2	rs145129878		TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr14:102901026G>A	ENST00000359520.7	+	9	2098	c.1872G>A	c.(1870-1872)gcG>gcA	p.A624A	TECPR2_ENST00000558678.1_Silent_p.A624A	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	624					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CTCCTGGGGCGCATGATGGGG	0.567													G|||	1	0.000199681	0	0	5008	,	,		20990	0		0.001	False		,,,				2504	0					ENST00000359520.7																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						c.(1870-1872)gcG>gcA		tectonin beta-propeller repeat containing 2		G	,	0,4406		0,0,2203	71	51	57		1872,1872	-5.5	0.0	14	dbSNP_134	57	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	TECPR2	NM_001172631.1,NM_014844.3	,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,	624/1268,624/1412	102901026	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	9895						protein binding	g.chr14:102901026G>A	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"KIAA0329"	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.1872G>A	14.37:g.102901026G>A						TECPR2_ENST00000558678.1_Silent_p.A624A	p.A624A	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN			9	2098	+			624					A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Silent	SNP	ENST00000359520.7	37	c.1872G>A	CCDS32162.1																																																																																				0.567	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		4	35	0	0	0	0.009096	0	4	35					A	102901026	G	A	102901026	2	1	30	1	0	0	0	0	0	0	0	1	15741	1074	38	1		1	TECPR2	14	102901026	Silent	SNP	G	TCGA-BJ-A2P4-01A-11D-A18F-08	8821755	102901026	4448514	18	825											
AHNAK2	113146	broad.mit.edu	37	chr14	105409862	105409862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagacaccccgaacgacgGcatcttgaacttgggcattt	11	12	1	2			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr14:105409862G>A	ENST00000333244.5	-	7	12045	c.11926C>T	c.(11926-11928)Ccg>Tcg	p.P3976S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3976						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)		p.P3976S(1)		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)			CCGAACGACGGCATCTTGAAC	0.617																																						ENST00000333244.5																			1	Substitution - Missense(1)	p.P3976S(1)	kidney(1)	cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(11926-11928)Ccg>Tcg		AHNAK nucleoprotein 2							233	235	234					14																	105409862		2024	4179	6203	SO:0001583	missense	113146					nucleus		g.chr14:105409862G>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.11926C>T	14.37:g.105409862G>A	ENSP00000353114:p.Pro3976Ser					AHNAK2_ENST00000557457.1_Intron	p.P3976S	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	12045	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3976					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.11926C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	17.68	3.449374	0.63178	.	.	ENSG00000185567	ENST00000333244	T	0.03035	4.07	4.0	4.0	0.46444	.	.	.	.	.	T	0.23370	0.0565	M	0.91038	3.17	0.41392	D	0.987628	D	0.89917	1.0	D	0.91635	0.999	T	0.18429	-1.0337	9	0.48119	T	0.1	.	15.1546	0.72730	0.0:0.0:1.0:0.0	.	3976	Q8IVF2	AHNK2_HUMAN	S	3976	ENSP00000353114:P3976S	ENSP00000353114:P3976S	P	-	1	0	AHNAK2	104480907	1.000000	0.71417	0.983000	0.44433	0.061000	0.15899	6.268000	0.72552	1.805000	0.52779	0.306000	0.20318	CCG		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		5	340	0	0	0	0.02938	0	5	340					A	105409862	G	A	105409862	3	1	30	1	0	0	0	0	1	0	0	0	415	1203	42	2	5465	2	AHNAK2	14	105409862	Missense_Mutation	SNP	G	TCGA-BJ-A2P4-01A-11D-A18F-08	2508836	105409862	1939678	19	826											
SF3B3	23450	broad.mit.edu	37	chr16	70569224	70569224	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctcacagttccaggagggtcAgatggtccaagtggagtact	13	9	2	1			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr16:70569224A>T	ENST00000302516.5	+	6	937	c.726A>T	c.(724-726)tcA>tcT	p.S242S	SNORD111_ENST00000408139.1_RNA	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	242					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CAGGAGGGTCAGATGGTCCAA	0.448																																						ENST00000302516.5																			0				breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53						c.(724-726)tcA>tcT		splicing factor 3b, subunit 3, 130kDa							215	220	218					16																	70569224		2198	4300	6498	SO:0001819	synonymous_variant	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70569224A>T	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"splicing factor 3b, subunit 3, 130kD"			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.726A>T	16.37:g.70569224A>T							p.S242S	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN			6	937	+		Ovarian(137;0.0694)	242					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Silent	SNP	ENST00000302516.5	37	c.726A>T	CCDS10894.1																																																																																				0.448	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		92	140	0	0	0	0.048971	0	92	140					T	70569224	A	T	70569224	2	4	30	1	0	0	0	0	0	0	0	1	14152	175	7	5		5	SF3B3	16	70569224	Silent	SNP	A	TCGA-BJ-A2P4-01A-11D-A18F-08		70569224	19785529	20	827											
GIP	2695	broad.mit.edu	37	chr17	47039134	47039134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcctattagcttgactgGccagctccagcgcccgagcc	9	17	0	1	rs369958190		TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr17:47039134G>A	ENST00000357424.2	-	4	405	c.305C>T	c.(304-306)gCc>gTc	p.A102V		NM_004123.2	NP_004114.1	P09681	GIP_HUMAN	gastric inhibitory polypeptide	102					adult locomotory behavior (GO:0008344)|cellular protein metabolic process (GO:0044267)|digestive system development (GO:0055123)|endocrine pancreas development (GO:0031018)|exploration behavior (GO:0035640)|female pregnancy (GO:0007565)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of glucagon secretion (GO:0070094)|positive regulation of glucose transport (GO:0010828)|positive regulation of insulin secretion (GO:0032024)|regulation of insulin secretion (GO:0050796)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to lipid (GO:0033993)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|response to selenium ion (GO:0010269)|response to starvation (GO:0042594)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|secretory granule lumen (GO:0034774)	hormone activity (GO:0005179)			lung(2)|skin(1)|stomach(1)	4						AGCTTGACTGGCCAGCTCCAG	0.617																																						ENST00000357424.2																			0				lung(2)|skin(1)|stomach(1)	4						c.(304-306)gCc>gTc		gastric inhibitory polypeptide		G	VAL/ALA	0,4406		0,0,2203	45	36	39		305	3.9	0.0	17		39	1,8599	1.2+/-3.3	0,1,4299	no	missense	GIP	NM_004123.2	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	102/154	47039134	1,13005	2203	4300	6503	SO:0001583	missense	2695				energy reserve metabolic process|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr17:47039134G>A		CCDS11542.1	17q21.3-q22	2013-02-26			ENSG00000159224	ENSG00000159224		"Endogenous ligands"	4270	protein-coding gene	gene with protein product	"glucose-dependent insulinotropic polypeptide"	137240				2739653	Standard	NM_004123		Approved		uc002iol.1	P09681	OTTHUMG00000161171	ENST00000357424.2:c.305C>T	17.37:g.47039134G>A	ENSP00000350005:p.Ala102Val						p.A102V	NM_004123.2	NP_004114.1	P09681	GIP_HUMAN			4	405	-			102					Q4VB42|Q6NTD3	Missense_Mutation	SNP	ENST00000357424.2	37	c.305C>T	CCDS11542.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.351952	0.41700	0.0	1.16E-4	ENSG00000159224	ENST00000357424	T	0.24151	1.87	4.83	3.87	0.44632	.	0.592602	0.15809	N	0.243562	T	0.18002	0.0432	L	0.29908	0.895	0.09310	N	1	B	0.20550	0.046	B	0.14578	0.011	T	0.13737	-1.0498	10	0.42905	T	0.14	-3.7723	8.6476	0.34016	0.1028:0.0:0.8972:0.0	.	102	P09681	GIP_HUMAN	V	102	ENSP00000350005:A102V	ENSP00000350005:A102V	A	-	2	0	GIP	44394133	0.341000	0.24801	0.028000	0.17463	0.001000	0.01503	2.333000	0.43912	1.256000	0.44068	0.655000	0.94253	GCC		0.617	GIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364044.1	NM_004123		3	27	0	0	0	0.014758	0	3	27					A	47039134	G	A	47039134	3	1	30	1	0	0	0	0	1	0	0	0	6391	1203	42	2	168	2	GIP	17	47039134	Missense_Mutation	SNP	G	TCGA-BJ-A2P4-01A-11D-A18F-08		47039134	34156076	21	828											
ANKLE1	126549	broad.mit.edu	37	chr19	17394682	17394682	+	Frame_Shift_Del	DEL	T	T	-													cttggagttgctgaagggacTccgagcacttggtgagaatc							TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr19:17394682delT	ENST00000394458.3	+	5	1385	c.1109delT	c.(1108-1110)ctcfs	p.L370fs	ANKLE1_ENST00000594072.1_Frame_Shift_Del_p.L359fs|ANKLE1_ENST00000598347.1_Frame_Shift_Del_p.L370fs|ANKLE1_ENST00000433424.2_Frame_Shift_Del_p.L424fs|ANKLE1_ENST00000404085.1_Frame_Shift_Del_p.L392fs	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	370	LEM. {ECO:0000255|PROSITE- ProRule:PRU00313}.									large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						CTGAAGGGACTCCGAGCACTT	0.577																																						ENST00000394458.3																			0				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						c.(1108-1110)ccfs		ankyrin repeat and LEM domain containing 1							57	57	57					19																	17394682		2203	4300	6503	SO:0001589	frameshift_variant	126549					nuclear envelope		g.chr19:17394682delT	AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"Ankyrin repeat domain containing"	26812	protein-coding gene	gene with protein product	"LEM domain containing 6"		"ankyrin repeat domain 41"	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	ENST00000394458.3:c.1109delT	19.37:g.17394682delT	ENSP00000377971:p.Leu370fs					ANKLE1_ENST00000594072.1_Frame_Shift_Del_p.L359fs|ANKLE1_ENST00000598347.1_Frame_Shift_Del_p.L370fs|ANKLE1_ENST00000433424.2_Frame_Shift_Del_p.L424fs|ANKLE1_ENST00000404085.1_Frame_Shift_Del_p.L392fs	p.L370fs	NM_152363.4	NP_689576.4	Q8NAG6	ANKL1_HUMAN			5	1385	+			370			LEM.		A8VU82|Q8N8J8	Frame_Shift_Del	DEL	ENST00000394458.3	37	c.1109delT	CCDS12354.2																																																																																				0.577	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325392.2	NM_152363		21	39						21	39	---	---	---	---	-	17394682	T	-	17394682	7	5	30	1	0	1	0	1	0	0	0	0	632	1551	54	0	1127	0	ANKLE1	19	17394682	Frame_Shift_Del	DEL	T	TCGA-BJ-A2P4-01A-11D-A18F-08		17394682	41734301	22	829											
PRODH2	58510	broad.mit.edu	37	chr19	36303117	36303117	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggggctccaggaggccCcgtgacaggtccacacaccg	15	15	0	1			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr19:36303117C>T	ENST00000301175.3	-	4	674	c.657G>A	c.(655-657)cgG>cgA	p.R219R		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	219					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCAGGAGGCCCCGTGACAGGT	0.647																																						ENST00000301175.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(655-657)cgG>cgA		proline dehydrogenase (oxidase) 2							53	58	56					19																	36303117		2203	4300	6503	SO:0001819	synonymous_variant	58510				glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity	g.chr19:36303117C>T	U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.657G>A	19.37:g.36303117C>T							p.R219R	NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		4	674	-	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		219						Silent	SNP	ENST00000301175.3	37	c.657G>A	CCDS12478.1																																																																																				0.647	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	NM_021232		22	45	0	0	0	0.062417	0	22	45					T	36303117	C	T	36303117	2	4	30	1	0	0	0	0	0	0	0	1	12549	610	22	2		2	PRODH2	19	36303117	Silent	SNP	C	TCGA-BJ-A2P4-01A-11D-A18F-08	18908435	36303117	22825866	23	830											
DDX27	55661	broad.mit.edu	37	chr20	47845343	47845343	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgtgctggtgctagtgccCacccgagagctgggcatcca	14	14	0	1	rs200539083	byFrequency	TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr20:47845343C>T	ENST00000371764.4	+	8	900	c.891C>T	c.(889-891)ccC>ccT	p.P297P	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	297	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGCTAGTGCCCACCCGAGAGC	0.602																																						ENST00000371764.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(889-891)ccC>ccT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 27							81	82	82					20																	47845343		2203	4300	6503	SO:0001819	synonymous_variant	55661					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr20:47845343C>T	AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"DEAD-boxes"	15837	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.891C>T	20.37:g.47845343C>T						DDX27_ENST00000484427.1_3'UTR	p.P297P	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		8	900	+			297			Helicase ATP-binding.		A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Silent	SNP	ENST00000371764.4	37	c.891C>T	CCDS13416.1																																																																																				0.602	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			46	42	0	0	0	0.045515	0	46	42					T	47845343	C	T	47845343	2	4	30	1	0	0	0	0	0	0	0	1	4354	581	21	2		2	DDX27	20	47845343	Silent	SNP	C	TCGA-BJ-A2P4-01A-11D-A18F-08		47845343	15180177	24	831											
OGFR	11054	broad.mit.edu	37	chr20	61444704	61444704	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccagccgagagcccatcGgagaccccaggccccagccc	12	19	0	2			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr20:61444704G>A	ENST00000290291.6	+	7	1762	c.1737G>A	c.(1735-1737)tcG>tcA	p.S579S	OGFR_ENST00000370461.1_Silent_p.S527S	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	579	7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].				opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					AGAGCCCATCGGAGACCCCAG	0.741																																						ENST00000370461.1																			0				endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17						c.(1579-1581)tcG>tcA		opioid growth factor receptor							4	9	8					20																	61444704		1743	3746	5489	SO:0001819	synonymous_variant	11054				regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity	g.chr20:61444704G>A	AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491			15768	protein-coding gene	gene with protein product		606459				10677613	Standard	NM_007346		Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000290291.6:c.1737G>A	20.37:g.61444704G>A						OGFR_ENST00000370468.3_Intron|OGFR_ENST00000290291.6_Silent_p.S579S	p.S527S			Q9NZT2	OGFR_HUMAN			5	3858	+	Breast(26;3.65e-08)		579			7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].		O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Silent	SNP	ENST00000290291.6	37	c.1581G>A	CCDS13504.1																																																																																				0.741	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1			3	9	0	0	0	0.02938	0	3	9					A	61444704	G	A	61444704	2	1	30	1	0	0	0	0	0	0	0	1	10843	1103	39	1		1	OGFR	20	61444704	Silent	SNP	G	TCGA-BJ-A2P4-01A-11D-A18F-08	13599361	61444704	1580816	25	832											
ANKRD54	129138	broad.mit.edu	37	chr22	38236241	38236241	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agtccctcagtctcttcagaGctgtaaagagagtaacggat	10	9	3	2			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr22:38236241G>C	ENST00000215941.4	-	2	521	c.329C>G	c.(328-330)gCt>gGt	p.A110G	ANKRD54_ENST00000411961.2_Intron|ANKRD54_ENST00000406423.1_5'UTR|ANKRD54_ENST00000609454.1_5'UTR	NM_138797.2	NP_620152.1	Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54	110	Nuclear localization signal (NLS). {ECO:0000250}.				nucleocytoplasmic transport (GO:0006913)|positive regulation of erythrocyte differentiation (GO:0045648)|regulation of intracellular signal transduction (GO:1902531)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	protein kinase regulator activity (GO:0019887)			lung(1)	1	Melanoma(58;0.045)					TCTCTTCAGAGCTGTAAAGAG	0.547																																						ENST00000215941.4																			0				lung(1)	1						c.e2-1		ankyrin repeat domain 54							163	153	156					22																	38236241		2203	4300	6503	SO:0001630	splice_region_variant	129138							g.chr22:38236241G>C	BC014641	CCDS13959.1	22q13.1	2013-01-10			ENSG00000100124	ENSG00000100124		"Ankyrin repeat domain containing"	25185	protein-coding gene	gene with protein product		613383				15461802	Standard	NM_138797		Approved	LIAR	uc003auc.3	Q6NXT1	OTTHUMG00000150663	ENST00000215941.4:c.329-1C>G	22.37:g.38236241G>C						ANKRD54_ENST00000411961.2_Intron|ANKRD54_ENST00000406423.1_5'UTR	p.A110_splice	NM_138797.2	NP_620152.1	Q6NXT1	ANR54_HUMAN			2	521	-	Melanoma(58;0.045)		110					Q6ZSB1|Q9UGV1	Splice_Site	SNP	ENST00000215941.4	37	c.328_splice	CCDS13959.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.67|15.67	2.902571|2.902571	0.52227|0.52227	.|.	.|.	ENSG00000100124|ENSG00000100124	ENST00000215941;ENST00000434930|ENST00000458278	T;T|.	0.70164|.	-0.25;-0.46|.	4.43|4.43	3.38|3.38	0.38709|0.38709	Ankyrin repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.29288|0.29288	0.0729|0.0729	N|N	0.02539|0.02539	-0.55|-0.55	0.80722|0.80722	D|D	1|1	B|.	0.19200|.	0.034|.	B|.	0.20384|.	0.029|.	T|T	0.14392|0.14392	-1.0474|-1.0474	10|5	0.02654|.	T|.	1|.	.|.	12.9286|12.9286	0.58275|0.58275	0.0804:0.0:0.9196:0.0|0.0804:0.0:0.9196:0.0	.|.	110|.	Q6NXT1|.	ANR54_HUMAN|.	G|V	110|33	ENSP00000215941:A110G;ENSP00000387507:A110G|.	ENSP00000215941:A110G|.	A|L	-|-	2|1	0|0	ANKRD54|ANKRD54	36566187|36566187	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	4.870000|4.870000	0.63035|0.63035	2.309000|2.309000	0.77851|0.77851	0.543000|0.543000	0.68304|0.68304	GCT|CTC		0.547	ANKRD54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319490.1	NM_138797	Missense_Mutation	3	100	0	0	0	0.004672	0	3	100					C	38236241	G	C	38236241	5	2	30	1	0	0	0	0	0	0	1	0	680	985	34	4	601	4	ANKRD54	22	38236241	Splice_Site	SNP	G	TCGA-BJ-A2P4-01A-11D-A18F-08		38236241	13068325	26	833											
RLIM	51132	broad.mit.edu	37	chrX	73811938	73811938	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtcattatctgccttaacatGgtctgaattgcaacagatgt	8	8	3	2	rs61754468		TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					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)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			6	Substitution - coding silent(6)	p.T404T(6)	lung(3)|urinary_tract(1)|kidney(1)|endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1210-1212)acC>acG		ring finger protein, LIM domain interacting							102	92	95					X																	73811938		2203	4300	6503	SO:0001819	synonymous_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811938G>C	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"RING-type (C3HC4) zinc fingers"	13429	protein-coding gene	gene with protein product	"ring zinc finger protein NY-REN-43antigen", "LIM domain interacting ring finger protein"	300379	"ring finger protein 12"	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1212C>G	X.37:g.73811938G>C						RLIM_ENST00000349225.2_Silent_p.T404T	p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1430	-			404					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.1212C>G	CCDS14427.1																																																																																				0.413	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		4	86	0	0	0	0.009096	0	4	86					C	73811938	G	C	73811938	2	2	30	1	0	0	0	0	0	0	0	1	13390	1335	47	4		4	RLIM	23	73811938	Silent	SNP	G	TCGA-BJ-A2P4-01A-11D-A18F-08		73811938	81458622	27	834											
GABRD	2563	broad.mit.edu	37	chr1	1961681	1961681	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgttccctgcggcgtttgCggccgtcaatgtcatctact	11	12	3	0			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr1:1961681C>T	ENST00000378585.4	+	9	1402	c.1319C>T	c.(1318-1320)gCg>gTg	p.A440V		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	440					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)	p.A440V(1)		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)	GCGGCGTTTGCGGCCGTCAAT	0.662																																						ENST00000378585.4																			1	Substitution - Missense(1)	p.A440V(1)	kidney(1)	central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(1318-1320)gCg>gTg		gamma-aminobutyric acid (GABA) A receptor, delta							53	53	53					1																	1961681		2202	4296	6498	SO:0001583	missense	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.chr1:1961681C>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.1319C>T	1.37:g.1961681C>T	ENSP00000367848:p.Ala440Val						p.A440V	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)	9	1402	+	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)	440					Q8N4N9	Missense_Mutation	SNP	ENST00000378585.4	37	c.1319C>T	CCDS36.1	.	.	.	.	.	.	.	.	.	.	C	1.893	-0.455093	0.04540	.	.	ENSG00000187730	ENST00000378585	D	0.83163	-1.69	3.84	2.88	0.33553	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.063694	0.64402	N	0.000006	T	0.69477	0.3115	L	0.28344	0.845	0.47341	D	0.999398	B	0.19445	0.036	B	0.10450	0.005	T	0.60016	-0.7345	10	0.19590	T	0.45	-20.44	10.0033	0.41942	0.0:0.8941:0.0:0.1059	.	440	O14764	GBRD_HUMAN	V	440	ENSP00000367848:A440V	ENSP00000367848:A440V	A	+	2	0	GABRD	1951541	0.777000	0.28628	0.016000	0.15963	0.010000	0.07245	1.499000	0.35671	0.907000	0.36646	0.313000	0.20887	GCG		0.662	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815		4	103	0	0	0	0.000602	0	4	103					T	1961681	C	T	1961681	3	4	31	1	0	0	0	0	1	0	0	0	6169	768	27	1	1353	1	GABRD	1	1961681	Missense_Mutation	SNP	C	TCGA-BJ-A3EZ-01A-11D-A202-08		1961681	247288940	1	835											
PRDM2	7799	broad.mit.edu	37	chr1	14075951	14075951	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gaagagcgagccagcgcccgGagcaagcggagctcccccaa	14	15	0	1			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr1:14075951G>C	ENST00000235372.7	+	6	1336	c.480G>C	c.(478-480)cgG>cgC	p.R160R	PRDM2_ENST00000505823.1_5'UTR|PRDM2_ENST00000413440.1_5'UTR|PRDM2_ENST00000503842.1_5'UTR|PRDM2_ENST00000502727.1_3'UTR|PRDM2_ENST00000343137.4_5'UTR|PRDM2_ENST00000311066.5_Silent_p.R160R|PRDM2_ENST00000376048.5_Silent_p.R160R	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	160					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)		CCAGCGCCCGGAGCAAGCGGA	0.726																																						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.(478-480)cgG>cgC		PR domain containing 2, with ZNF domain							14	17	16					1																	14075951		2195	4283	6478	SO:0001819	synonymous_variant	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14075951G>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.480G>C	1.37:g.14075951G>C						PRDM2_ENST00000343137.4_5'UTR|PRDM2_ENST00000311066.5_Silent_p.R160R|PRDM2_ENST00000413440.1_5'UTR|PRDM2_ENST00000502727.1_3'UTR|PRDM2_ENST00000376048.5_Silent_p.R160R|PRDM2_ENST00000503842.1_5'UTR|PRDM2_ENST00000505823.1_5'UTR	p.R160R	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)	6	1336	+	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)	160					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent	SNP	ENST00000235372.7	37	c.480G>C	CCDS150.1																																																																																				0.726	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		13	6	0	0	0	0.001368	0	13	6					C	14075951	G	C	14075951	2	2	31	1	0	0	0	0	0	0	0	1	12458	1161	41	4		4	PRDM2	1	14075951	Silent	SNP	G	TCGA-BJ-A3EZ-01A-11D-A202-08	12114270	14075951	235174670	2	836											
NBPF10	100132406	broad.mit.edu	37	chr1	145293460	145293460	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aggcagagatgaacattctaGaaatcaacgagacattgcgc	10	8	2	4			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr1:145293460G>C	ENST00000369339.3	+	3	308	c.55G>C	c.(55-57)Gaa>Caa	p.E19Q	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Missense_Mutation_p.E19Q|NBPF10_ENST00000369338.1_Intron			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	290						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAACATTCTAGAAATCAACGA	0.522																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(55-57)Gaa>Caa		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145293460G>C	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.55G>C	1.37:g.145293460G>C	ENSP00000358345:p.Glu19Gln					RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Missense_Mutation_p.E19Q	p.E19Q	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	1	90	+	all_hematologic(923;0.032)		19					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37	c.55G>C		.	.	.	.	.	.	.	.	.	.	.	10.94	1.491944	0.26774	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.03212	4.01	1.21	1.21	0.21127	.	.	.	.	.	T	0.07324	0.0185	M	0.83483	2.645	0.09310	N	1	D	0.76494	0.999	D	0.68621	0.959	T	0.14671	-1.0464	9	0.72032	D	0.01	.	5.8427	0.18643	0.0:0.0:1.0:0.0	.	19	A8MQ30	.	Q	19	ENSP00000345684:E19Q	ENSP00000345684:E19Q	E	+	1	0	NBPF10	144004817	0.000000	0.05858	0.017000	0.16124	0.030000	0.12068	-0.240000	0.08952	0.969000	0.38237	0.184000	0.17185	GAA		0.522	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		122	828	0	0	0	0.00361	0	122	828					C	145293460	G	C	145293460	3	2	31	1	0	0	0	0	1	0	0	0	10193	943	33	4	57	4	NBPF10	1	145293460	Missense_Mutation	SNP	G	TCGA-BJ-A3EZ-01A-11D-A202-08	131217509	145293460	103957161	3	837											
ABL2	27	broad.mit.edu	37	chr1	179090742	179090742	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caacccaccttcaatgttttCacagcaactgtaaggctgta	6	12	2	0			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr1:179090742C>T	ENST00000502732.1	-	5	1151	c.948G>A	c.(946-948)gtG>gtA	p.V316V	ABL2_ENST00000507173.1_Silent_p.V295V|ABL2_ENST00000408940.3_Silent_p.V280V|ABL2_ENST00000367623.4_Silent_p.V295V|ABL2_ENST00000392043.3_Silent_p.V295V|ABL2_ENST00000512653.1_Silent_p.V301V|ABL2_ENST00000511413.1_Silent_p.V316V|ABL2_ENST00000504405.1_Silent_p.V280V|ABL2_ENST00000344730.3_Silent_p.V301V	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	316	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TCAATGTTTTCACAGCAACTG	0.428			T	ETV6	AML																																	ENST00000502732.1				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65						c.(946-948)gtG>gtA		c-abl oncogene 2, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						192	184	187					1																	179090742		2203	4300	6503	SO:0001819	synonymous_variant	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179090742C>T	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"SH2 domain containing"	77	protein-coding gene	gene with protein product	"Abelson-related gene"	164690	"v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)", "v-abl Abelson murine leukemia viral oncogene homolog 2", "c-abl oncogene 2, non-receptor tyrosine kinase"	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.948G>A	1.37:g.179090742C>T						ABL2_ENST00000344730.3_Silent_p.V301V|ABL2_ENST00000507173.1_Silent_p.V295V|ABL2_ENST00000408940.3_Silent_p.V280V|ABL2_ENST00000511413.1_Silent_p.V316V|ABL2_ENST00000367623.4_Silent_p.V295V|ABL2_ENST00000504405.1_Silent_p.V280V|ABL2_ENST00000512653.1_Silent_p.V301V|ABL2_ENST00000392043.3_Silent_p.V295V	p.V316V	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN			5	1151	-			316			Protein kinase.		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Silent	SNP	ENST00000502732.1	37	c.948G>A	CCDS30947.1																																																																																				0.428	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		9	232	0	0	0	0.006214	0	9	232					T	179090742	C	T	179090742	2	4	31	1	0	0	0	0	0	0	0	1	93	813	29	2		2	ABL2	1	179090742	Silent	SNP	C	TCGA-BJ-A3EZ-01A-11D-A202-08	33797282	179090742	70159879	4	838											
GNPAT	8443	broad.mit.edu	37	chr1	231401089	231401089	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctacgaatgtcgggtgccTttttcatgcggcgtaccttt	11	10	1	0			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr1:231401089T>C	ENST00000366647.4	+	5	788	c.619T>C	c.(619-621)Ttt>Ctt	p.F207L	GNPAT_ENST00000366646.3_Missense_Mutation_p.F146L	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	207					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				GTCGGGTGCCTTTTTCATGCG	0.383																																						ENST00000366647.4																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23						c.(619-621)Ttt>Ctt		glyceronephosphate O-acyltransferase							118	122	120					1																	231401089		2203	4300	6503	SO:0001583	missense	8443				ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity	g.chr1:231401089T>C	AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.619T>C	1.37:g.231401089T>C	ENSP00000355607:p.Phe207Leu					GNPAT_ENST00000366646.3_Missense_Mutation_p.F146L	p.F207L	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN			5	788	+	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)	207					B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	ENST00000366647.4	37	c.619T>C	CCDS1592.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.035589	0.93630	.	.	ENSG00000116906	ENST00000436239;ENST00000366647;ENST00000366646;ENST00000416000	D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98	5.25	5.25	0.73442	Phospholipid/glycerol acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.96546	0.8873	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.994	D	0.97350	0.9963	10	0.87932	D	0	.	15.4621	0.75366	0.0:0.0:0.0:1.0	.	146;207	B4DNM9;O15228	.;GNPAT_HUMAN	L	146;207;146;197	ENSP00000402811:F146L;ENSP00000355607:F207L;ENSP00000355606:F146L;ENSP00000411640:F197L	ENSP00000355606:F146L	F	+	1	0	GNPAT	229467712	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.630000	0.83225	2.120000	0.65058	0.383000	0.25322	TTT		0.383	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1			3	92	0	0	0	0.004672	0	3	92					C	231401089	T	C	231401089	3	2	31	1	0	0	0	0	1	0	0	0	6541	1609	56	3	637	3	GNPAT	1	231401089	Missense_Mutation	SNP	T	TCGA-BJ-A3EZ-01A-11D-A202-08	52310347	231401089	17849532	5	839											
PIK3CA	5290	broad.mit.edu	37	chr3	178952074	178952074	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gagtatttcatgaaacaaatGaatgatgcacatcatggtgg	10	5	2	3	rs121913283		TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr3:178952074G>C	ENST00000263967.3	+	21	3286	c.3129G>C	c.(3127-3129)atG>atC	p.M1043I	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1043	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		M -> I (in MCAP and CRC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|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)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.M1043I(66)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAACAAATGAATGATGCAC	0.368		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		66	Substitution - Missense(66)	p.M1043I(66)	large_intestine(36)|endometrium(11)|breast(6)|urinary_tract(4)|lung(4)|cervix(2)|thyroid(1)|central_nervous_system(1)|ovary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3127-3129)atG>atC		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							98	88	91					3																	178952074		1907	4120	6027	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952074G>C		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3129G>C	3.37:g.178952074G>C	ENSP00000263967:p.Met1043Ile	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.M1043I	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3286	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1043		M -> I (in cancer; shows an increase in lipid kinase activity).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3129G>C	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.859141	0.51376	.	.	ENSG00000121879	ENST00000263967	T	0.75260	-0.92	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.42944	0.1225	N	0.00500	-1.43	0.80722	D	1	B	0.25955	0.138	B	0.19666	0.026	T	0.58662	-0.7597	10	0.02654	T	1	-20.5202	20.6721	0.99693	0.0:0.0:1.0:0.0	.	1043	P42336	PK3CA_HUMAN	I	1043	ENSP00000263967:M1043I	ENSP00000263967:M1043I	M	+	3	0	PIK3CA	180434768	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.367000	0.97148	2.894000	0.99253	0.591000	0.81541	ATG		0.368	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			40	55	0	0	0	0.007835	0	40	55					C	178952074	G	C	178952074	3	2	31	1	0	0	0	0	1	0	0	0	11913	1290	45	4	3207	4	PIK3CA	3	178952074	Missense_Mutation	SNP	G	TCGA-BJ-A3EZ-01A-11D-A202-08		178952074	19070356	6	840											
MTTP	4547	broad.mit.edu	37	chr4	100534244	100534244	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaatgctgtcagcatctGgcgaccctatcagtgtggtg	11	11	3	0			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr4:100534244G>A	ENST00000265517.5	+	15	2367	c.2164G>A	c.(2164-2166)Ggc>Agc	p.G722S	MTTP_ENST00000511045.1_Missense_Mutation_p.G749S|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000457717.1_Missense_Mutation_p.G722S			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	722					cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	GTCAGCATCTGGCGACCCTAT	0.423																																						ENST00000457717.1																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57						c.(2164-2166)Ggc>Agc		microsomal triglyceride transfer protein	Hesperetin(DB01094)						159	140	147					4																	100534244		2203	4300	6503	SO:0001583	missense	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100534244G>A		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"microsomal triglyceride transfer protein (large polypeptide, 88kD)", "microsomal triglyceride transfer protein (large polypeptide, 88kDa)"	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.2164G>A	4.37:g.100534244G>A	ENSP00000265517:p.Gly722Ser					RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Missense_Mutation_p.G722S|MTTP_ENST00000511045.1_Missense_Mutation_p.G749S	p.G722S	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	16	2420	+			722					A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	c.2164G>A	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663995	0.47572	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	T;T;T	0.62105	0.05;0.08;0.08	5.49	-2.31	0.06765	.	0.188909	0.56097	N	0.000030	T	0.54615	0.1869	L	0.57536	1.79	0.52099	D	0.99994	B;B	0.23854	0.092;0.007	B;B	0.21917	0.037;0.017	T	0.43163	-0.9408	10	0.23302	T	0.38	-4.3126	16.8818	0.86065	0.1004:0.0:0.8996:0.0	.	749;722	E9PBP6;P55157	.;MTP_HUMAN	S	749;722;722	ENSP00000427679:G749S;ENSP00000400821:G722S;ENSP00000265517:G722S	ENSP00000265517:G722S	G	+	1	0	MTTP	100753267	1.000000	0.71417	0.005000	0.12908	0.968000	0.65278	1.655000	0.37345	-0.912000	0.03837	0.585000	0.79938	GGC		0.423	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			3	75	0	0	0	0.004672	0	3	75					A	100534244	G	A	100534244	3	1	31	1	0	0	0	0	1	0	0	0	9964	1348	47	2	2222	2	MTTP	4	100534244	Missense_Mutation	SNP	G	TCGA-BJ-A3EZ-01A-11D-A202-08		100534244	90620032	7	841											
ADAM29	11086	broad.mit.edu	37	chr4	175897117	175897117	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttctaccacgtttgaacaTctggtatacaagatggacag	8	8	2	2			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr4:175897117T>C	ENST00000359240.3	+	5	1111	c.441T>C	c.(439-441)caT>caC	p.H147H	ADAM29_ENST00000404450.4_Silent_p.H147H|ADAM29_ENST00000514159.1_Silent_p.H147H|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Silent_p.H147H	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	147					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CGTTTGAACATCTGGTATACA	0.368																																					Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(439-441)caT>caC		ADAM metallopeptidase domain 29							83	86	85					4																	175897117		2203	4300	6503	SO:0001819	synonymous_variant	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897117T>C	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.441T>C	4.37:g.175897117T>C						ADAM29_ENST00000514159.1_Silent_p.H147H|ADAM29_ENST00000445694.1_Silent_p.H147H|ADAM29_ENST00000404450.4_Silent_p.H147H	p.H147H	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	1111	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	147					Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Silent	SNP	ENST00000359240.3	37	c.441T>C	CCDS3823.1																																																																																				0.368	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				46	78	0	0	0	0.002852	0	46	78					C	175897117	T	C	175897117	2	2	31	1	0	0	0	0	0	0	0	1	247	1432	50	3		3	ADAM29	4	175897117	Silent	SNP	T	TCGA-BJ-A3EZ-01A-11D-A202-08	75362873	175897117	15257159	8	842											
MTMR12	54545	broad.mit.edu	37	chr5	32230250	32230250	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctcgatatgcggtaacaaCaaaccatggtagtcagtgga	10	10	1	0			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr5:32230250C>A	ENST00000382142.3	-	16	2048	c.1878G>T	c.(1876-1878)ttG>ttT	p.L626F	MTMR12_ENST00000264934.5_Missense_Mutation_p.L516F|MTMR12_ENST00000510216.1_5'UTR|MTMR12_ENST00000280285.5_Missense_Mutation_p.L572F	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	626	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GCGGTAACAACAAACCATGGT	0.483																																						ENST00000382142.3																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(1876-1878)ttG>ttT		myotubularin related protein 12							99	98	98					5																	32230250		2203	4300	6503	SO:0001583	missense	54545					cytoplasm	phosphatase activity	g.chr5:32230250C>A	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	18191	protein-coding gene	gene with protein product		606501	"phosphatidylinositol-3-phosphate associated protein"	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.1878G>T	5.37:g.32230250C>A	ENSP00000371577:p.Leu626Phe					MTMR12_ENST00000264934.5_Missense_Mutation_p.L516F|MTMR12_ENST00000280285.5_Missense_Mutation_p.L572F|MTMR12_ENST00000510216.1_5'UTR	p.L626F	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN			16	2048	-			626			Myotubularin phosphatase.		Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	ENST00000382142.3	37	c.1878G>T	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457207	0.43634	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	T;T;T	0.52983	0.64;0.64;0.64	5.78	2.87	0.33458	Myotubularin phosphatase domain (1);	0.000000	0.64402	D	0.000001	T	0.58366	0.2117	M	0.62723	1.935	0.22389	N	0.999143	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.47849	-0.9085	10	0.72032	D	0.01	.	3.9688	0.09444	0.1198:0.5421:0.1967:0.1414	.	516;572;626	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	F	572;626;516	ENSP00000280285:L572F;ENSP00000371577:L626F;ENSP00000264934:L516F	ENSP00000264934:L516F	L	-	3	2	MTMR12	32266007	0.861000	0.29849	0.103000	0.21229	0.394000	0.30568	0.633000	0.24598	0.779000	0.33543	0.561000	0.74099	TTG		0.483	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061		72	96	1	0	9.07738e-34	0.00361	1.23553e-33	72	96					A	32230250	C	A	32230250	3	1	31	1	0	0	0	0	1	0	0	0	9941	477	17	4	369	4	MTMR12	5	32230250	Missense_Mutation	SNP	C	TCGA-BJ-A3EZ-01A-11D-A202-08		32230250	148685010	9	843											
CAMK2A	815	broad.mit.edu	37	chr5	149602592	149602592	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagatctgtggaagtggaCgatctgccatttgccatccc	10	13	2	1			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr5:149602592C>T	ENST00000348628.6	-	17	2058	c.1393G>A	c.(1393-1395)Gtc>Atc	p.V465I	CAMK2A_ENST00000398376.3_Missense_Mutation_p.V476I|CAMK2A_ENST00000351010.6_5'UTR	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	465					calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|kinase activity (GO:0016301)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGAAGTGGACGATCTGCCAT	0.632																																						ENST00000348628.6																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15						c.(1393-1395)Gtc>Atc		calcium/calmodulin-dependent protein kinase II alpha							71	83	79					5																	149602592		2182	4293	6475	SO:0001583	missense	815				interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:149602592C>T	AB023185	CCDS43386.1, CCDS43387.1	5q32	2013-09-20	2008-10-30		ENSG00000070808	ENSG00000070808	2.7.11.17		1460	protein-coding gene	gene with protein product	"CaM-kinase II alpha chain", "calcium/calmodulin-dependent protein kinase II alpha-B subunit", "CaM kinase II alpha subunit", "CaMK-II alpha subunit", "calcium/calmodulin-dependent protein kinase type II alpha chain"	114078	"calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha"	CAMKA		10231032, 3475713	Standard	NM_015981		Approved	KIAA0968, CaMKIINalpha	uc003lrt.2	Q9UQM7	OTTHUMG00000134281	ENST00000348628.6:c.1393G>A	5.37:g.149602592C>T	ENSP00000261793:p.Val465Ile					CAMK2A_ENST00000398376.3_Missense_Mutation_p.V476I|CAMK2A_ENST00000351010.6_5'UTR	p.V465I	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		17	2058	-		all_hematologic(541;0.224)	465					Q9UL21|Q9Y2H4|Q9Y352	Missense_Mutation	SNP	ENST00000348628.6	37	c.1393G>A	CCDS43386.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990298	0.74589	.	.	ENSG00000070808	ENST00000348628;ENST00000398376	T;T	0.54479	0.57;0.57	5.15	4.29	0.51040	Calcium/calmodulin-dependent protein kinase II, association-domain (1);	0.000000	0.64402	U	0.000006	T	0.58949	0.2158	L	0.57536	1.79	0.58432	D	0.999999	B;P;B	0.39920	0.03;0.695;0.03	B;P;B	0.47705	0.012;0.555;0.012	T	0.61148	-0.7121	10	0.52906	T	0.07	.	13.9542	0.64137	0.0:0.9263:0.0:0.0737	.	465;476;465	Q9UQM7;A8K161;Q7LDD5	KCC2A_HUMAN;.;.	I	465;476	ENSP00000261793:V465I;ENSP00000381412:V476I	ENSP00000261793:V465I	V	-	1	0	CAMK2A	149582785	0.993000	0.37304	0.996000	0.52242	0.986000	0.74619	3.075000	0.50073	1.188000	0.43014	0.555000	0.69702	GTC		0.632	CAMK2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258869.2	NM_015981		57	67	0	0	0	0.00361	0	57	67					T	149602592	C	T	149602592	3	4	31	1	0	0	0	0	1	0	0	0	2599	536	19	1	51	1	CAMK2A	5	149602592	Missense_Mutation	SNP	C	TCGA-BJ-A3EZ-01A-11D-A202-08	117372342	149602592	31312668	10	844											
LATS1	9113	broad.mit.edu	37	chr6	150023002	150023002	+	Frame_Shift_Del	DEL	T	T	-													gaatttgtttcatttgcaaaTggaagcagagagtttcgaat							TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr6:150023002delT	ENST00000543571.1	-	2	808	c.261delA	c.(259-261)ccafs	p.P87fs	LATS1_ENST00000392273.3_Frame_Shift_Del_p.P87fs|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Frame_Shift_Del_p.P87fs	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		CATTTGCAAATGGAAGCAGAG	0.398																																						ENST00000543571.1																			0				central_nervous_system(1)|lung(5)	6						c.(259-261)ccfs		large tumor suppressor kinase 1							157	155	156					6																	150023002		2203	4300	6503	SO:0001589	frameshift_variant	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:150023002delT	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"LATS (large tumor suppressor, Drosophila) homolog 1", "LATS, large tumor suppressor, homolog 1 (Drosophila)"			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.261delA	6.37:g.150023002delT	ENSP00000437550:p.Pro87fs					LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Frame_Shift_Del_p.P87fs|LATS1_ENST00000392273.3_Frame_Shift_Del_p.P87fs	p.P87fs	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	2	808	-		Ovarian(120;0.0164)	87						Frame_Shift_Del	DEL	ENST00000543571.1	37	c.261delA	CCDS34551.1																																																																																				0.398	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		47	159						47	159	---	---	---	---	-	150023002	T	-	150023002	7	5	31	1	0	1	0	1	0	0	0	0	8646	1451	51	0	3159	0	LATS1	6	150023002	Frame_Shift_Del	DEL	T	TCGA-BJ-A3EZ-01A-11D-A202-08		150023002	21092065	11	845											
INTS1	26173	broad.mit.edu	37	chr7	1542823	1542823	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaagtctcctgggggaggGtgccctgcagagaaaggaga	17	7	1	3			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr7:1542823G>A	ENST00000404767.3	-	3	148	c.63C>T	c.(61-63)caC>caT	p.H21H	INTS1_ENST00000389470.4_Silent_p.H149H|INTS1_ENST00000493531.1_5'Flank	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	21					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CTGGGGGAGGGTGCCCTGCAG	0.542																																						ENST00000389470.4																			0				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62						c.(445-447)caC>caT		integrator complex subunit 1							42	48	46					7																	1542823		1926	4129	6055	SO:0001819	synonymous_variant	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1542823G>A	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.63C>T	7.37:g.1542823G>A						INTS1_ENST00000404767.3_Silent_p.H21H	p.H149H			Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	4	446	-		Ovarian(82;0.0253)	21					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	ENST00000404767.3	37	c.447C>T	CCDS47526.1																																																																																				0.542	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			30	50	0	0	0	0.003755	0	30	50					A	1542823	G	A	1542823	2	1	31	1	0	0	0	0	0	0	0	1	7775	1252	44	2		2	INTS1	7	1542823	Silent	SNP	G	TCGA-BJ-A3EZ-01A-11D-A202-08		1542823	157595840	12	846											
CLIP2	7461	broad.mit.edu	37	chr7	73731926	73731926	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cggccgtggggggaagcactCcagccccatgggccggacat	16	14	0	0			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr7:73731926C>G	ENST00000395060.1	+	1	50	c.50C>G	c.(49-51)tCc>tGc	p.S17C	CLIP2_ENST00000223398.6_Missense_Mutation_p.S17C|CLIP2_ENST00000361545.5_Missense_Mutation_p.S17C			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	17						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GGGAAGCACTCCAGCCCCATG	0.672																																						ENST00000223398.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(49-51)tCc>tGc		CAP-GLY domain containing linker protein 2							56	61	59					7																	73731926		2203	4300	6503	SO:0001583	missense	7461					microtubule associated complex		g.chr7:73731926C>G	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"cytoplasmic linker 2", "Williams-Beuren syndrome chromosome region 3"	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.50C>G	7.37:g.73731926C>G	ENSP00000378500:p.Ser17Cys					CLIP2_ENST00000395060.1_Missense_Mutation_p.S17C|CLIP2_ENST00000361545.5_Missense_Mutation_p.S17C	p.S17C	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN			2	377	+			17					O14527|O43611	Missense_Mutation	SNP	ENST00000395060.1	37	c.50C>G	CCDS5569.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677258	0.68042	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	T;T;T	0.60920	0.15;0.2;0.15	4.52	4.52	0.55395	.	0.149197	0.45606	D	0.000358	T	0.61887	0.2383	L	0.27053	0.805	0.38517	D	0.948633	D;D	0.76494	0.999;0.999	D;P	0.66847	0.947;0.862	T	0.68221	-0.5466	10	0.87932	D	0	-15.5974	12.629	0.56646	0.0:1.0:0.0:0.0	.	17;17	Q9UDT6-2;Q9UDT6	.;CLIP2_HUMAN	C	17	ENSP00000223398:S17C;ENSP00000355151:S17C;ENSP00000378500:S17C	ENSP00000223398:S17C	S	+	2	0	CLIP2	73369862	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	3.665000	0.54532	2.340000	0.79590	0.561000	0.74099	TCC		0.672	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		65	80	0	0	0	0.00361	0	65	80					G	73731926	C	G	73731926	3	3	31	1	0	0	0	0	1	0	0	0	3533	855	30	4	52	4	CLIP2	7	73731926	Missense_Mutation	SNP	C	TCGA-BJ-A3EZ-01A-11D-A202-08	72189103	73731926	85406737	13	847											
FOXP2	93986	broad.mit.edu	37	chr7	114269973	114269973	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaacaacagcagcagcaAcaacaacaacaacagcagca	6	14	0	0	rs576887296|rs398124272	byFrequency	TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr7:114269973A>G	ENST00000393494.2	+	5	789	c.510A>G	c.(508-510)caA>caG	p.Q170Q	FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000393500.3_Silent_p.Q95Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q195Q(1)	kidney(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(283-285)caA>caG		forkhead box P2							37	35	35					7																	114269973		2203	4294	6497	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	g.chr7:114269973A>G	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.510A>G	7.37:g.114269973A>G						AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q	p.Q95Q			O15409	FOXP2_HUMAN			11	1105	+			170			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.285A>G	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		3	35	0	0	0	0.004672	0	3	35					G	114269973	A	G	114269973	2	3	31	1	0	0	0	0	0	0	0	1	6027	40	2	3		3	FOXP2	7	114269973	Silent	SNP	A	TCGA-BJ-A3EZ-01A-11D-A202-08	40538047	114269973	44868690	14	848											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		46	63	0	0	0	0.00361	0	46	63					T	140453136	A	T	140453136	3	4	31	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A3EZ-01A-11D-A202-08	26183163	140453136	18685527	15	849											
TMEM176B	28959	broad.mit.edu	37	chr7	150490266	150490266	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctgtacccagtggtagggaaGacagggtctgagcgatcaca	14	9	2	2			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr7:150490266G>C	ENST00000447204.2	-	5	882	c.510C>G	c.(508-510)gtC>gtG	p.V170V	TMEM176B_ENST00000434545.1_Silent_p.V170V|TMEM176B_ENST00000492607.1_Silent_p.V170V|TMEM176B_ENST00000429904.2_Silent_p.V170V|TMEM176B_ENST00000450753.2_Silent_p.V133V|TMEM176B_ENST00000326442.5_Silent_p.V170V	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	170					cell differentiation (GO:0030154)|negative regulation of dendritic cell differentiation (GO:2001199)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGTAGGGAAGACAGGGTCTG	0.507																																						ENST00000447204.2																			0				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19						c.(508-510)gtC>gtG		transmembrane protein 176B							161	133	143					7																	150490266		2203	4300	6503	SO:0001819	synonymous_variant	28959				cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane		g.chr7:150490266G>C	AF115384	CCDS5908.1, CCDS47746.1	7q36.1	2006-09-04			ENSG00000106565	ENSG00000106565			29596	protein-coding gene	gene with protein product		610385				9922225	Standard	NM_014020		Approved	LR8	uc003whu.4	Q3YBM2	OTTHUMG00000157577	ENST00000447204.2:c.510C>G	7.37:g.150490266G>C						TMEM176B_ENST00000434545.1_Silent_p.V170V|TMEM176B_ENST00000429904.2_Silent_p.V170V|TMEM176B_ENST00000326442.5_Silent_p.V170V|TMEM176B_ENST00000492607.1_Silent_p.V170V|TMEM176B_ENST00000450753.2_Silent_p.V133V	p.V170V	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	882	-			170					B2RDK2|D3DWZ7|E9PAV4|Q5BJI2|Q9BT42|Q9Y609	Silent	SNP	ENST00000447204.2	37	c.510C>G	CCDS5908.1																																																																																				0.507	TMEM176B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349204.1	NM_014020		53	69	0	0	0	0.00361	0	53	69					C	150490266	G	C	150490266	2	2	31	1	0	0	0	0	0	0	0	1	16090	929	33	4		4	TMEM176B	7	150490266	Silent	SNP	G	TCGA-BJ-A3EZ-01A-11D-A202-08	10037130	150490266	8648397	16	850											
ABP1	26	broad.mit.edu	37	chr7	150558122	150558122	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acctgggaactccgtgggctTcctgctccggccattcaact	10	15	1	0			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr7:150558122T>A	ENST00000493429.1	+	7	2665	c.2081T>A	c.(2080-2082)tTc>tAc	p.F694Y	AOC1_ENST00000416793.2_Missense_Mutation_p.F713Y|AOC1_ENST00000467291.1_Missense_Mutation_p.F694Y|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000360937.4_Missense_Mutation_p.F694Y			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	694					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	TCCGTGGGCTTCCTGCTCCGG	0.627																																						ENST00000493429.1																			0											c.(2080-2082)tTc>tAc		amine oxidase, copper containing 1							63	76	72					7																	150558122		2063	4216	6279	SO:0001583	missense	26							g.chr7:150558122T>A	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"diamine oxidase"	104610	"amiloride binding protein 1 (amine oxidase (copper-containing))"	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.2081T>A	7.37:g.150558122T>A	ENSP00000418614:p.Phe694Tyr					AOC1_ENST00000416793.2_Missense_Mutation_p.F713Y|AOC1_ENST00000360937.4_Missense_Mutation_p.F694Y|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000467291.1_Missense_Mutation_p.F694Y	p.F694Y							7	2665	+								C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	c.2081T>A	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.863710	0.91511	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000416793;ENST00000437714	T;T;T;T	0.04809	3.55;3.55;3.55;3.55	5.01	5.01	0.66863	Copper amine oxidase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.28167	0.0695	M	0.92738	3.34	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	T	0.18272	-1.0342	10	0.72032	D	0.01	-28.9915	12.689	0.56964	0.0:0.0:0.0:1.0	.	713;694	C9J690;P19801	.;ABP1_HUMAN	Y	694;694;694;713;570	ENSP00000418614:F694Y;ENSP00000418328:F694Y;ENSP00000354193:F694Y;ENSP00000411613:F713Y	ENSP00000354193:F694Y	F	+	2	0	ABP1	150189055	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.632000	0.83247	1.884000	0.54569	0.397000	0.26171	TTC		0.627	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		41	50	0	0	0	0.006999	0	41	50					A	150558122	T	A	150558122	3	1	31	1	0	0	0	0	1	0	0	0	98	1783	62	5	2095	5	ABP1	7	150558122	Missense_Mutation	SNP	T	TCGA-BJ-A3EZ-01A-11D-A202-08	67856	150558122	8580541	17	851											
LETM2	137994	broad.mit.edu	37	chr8	38264955	38264955	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacctatttcattacctaaaGgacccatcacttcttctgaa	3	13	4	1			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr8:38264955G>T	ENST00000379957.4	+	10	1514	c.1387G>T	c.(1387-1389)Gga>Tga	p.G463*	LETM2_ENST00000523983.2_Nonsense_Mutation_p.G416*|LETM2_ENST00000524874.1_Nonsense_Mutation_p.G415*|RP11-350N15.6_ENST00000606593.1_RNA|LETM2_ENST00000527710.1_Nonsense_Mutation_p.G249*|LETM2_ENST00000297720.5_Nonsense_Mutation_p.G368*	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	463						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			ATTACCTAAAGGACCCATCAC	0.388																																						ENST00000379957.4																			0				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7						c.(1387-1389)Gga>Tga		leucine zipper-EF-hand containing transmembrane protein 2							176	163	167					8																	38264955		2203	4300	6503	SO:0001587	stop_gained	137994					integral to membrane|mitochondrial inner membrane		g.chr8:38264955G>T	AK058138	CCDS6106.1, CCDS56534.1, CCDS69466.1, CCDS75731.1	8p12	2013-01-11						"EF-hand domain containing"	14648	protein-coding gene	gene with protein product						11549311	Standard	NM_001286821		Approved	FLJ25409	uc003xlm.2	Q2VYF4		ENST00000379957.4:c.1387G>T	8.37:g.38264955G>T	ENSP00000369291:p.Gly463*					LETM2_ENST00000297720.5_Nonsense_Mutation_p.G368*|LETM2_ENST00000523983.2_Nonsense_Mutation_p.G416*|LETM2_ENST00000527710.1_Nonsense_Mutation_p.G249*|LETM2_ENST00000524874.1_Nonsense_Mutation_p.G415*	p.G463*	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)		10	1514	+	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	463					A6NMG3|Q8NCR2|Q96LL1	Nonsense_Mutation	SNP	ENST00000379957.4	37	c.1387G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.75|14.75	2.627203|2.627203	0.46944|0.46944	.|.	.|.	ENSG00000165046|ENSG00000165046	ENST00000297720;ENST00000524874;ENST00000379957;ENST00000523983;ENST00000527710|ENST00000527175	.|.	.|.	.|.	4.67|4.67	4.67|4.67	0.58626|0.58626	.|.	1.470630|.	0.04114|.	N|.	0.315118|.	.|T	.|0.64505	.|0.2604	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.63589	.|-0.6603	.|4	0.14252|.	T|.	0.57|.	-3.1925|-3.1925	13.0793|13.0793	0.59104|0.59104	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|M	368;415;463;416;249|57	.|.	ENSP00000297720:G368X|.	G|R	+|+	1|2	0|0	LETM2|LETM2	38384112|38384112	0.142000|0.142000	0.22610|0.22610	0.137000|0.137000	0.22149|0.22149	0.075000|0.075000	0.17131|0.17131	2.233000|2.233000	0.43027|0.43027	2.134000|2.134000	0.65973|0.65973	0.561000|0.561000	0.74099|0.74099	GGA|AGG		0.388	LETM2-013	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000381816.1	NM_144652		68	113	1	0	6.88731e-43	0.00361	9.64224e-43	68	113					T	38264955	G	T	38264955	4	4	31	1	0	0	0	0	0	1	0	0	8735	1001	35	4	1128	4	LETM2	8	38264955	Nonsense_Mutation	SNP	G	TCGA-BJ-A3EZ-01A-11D-A202-08		38264955	108099067	18	852											
NUDT15	55270	broad.mit.edu	37	chr13	48611888	48611888	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctcccgcgcgctatgacGgccagcgcacagccgcgcgg	14	18	0	1	rs200646172		TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr13:48611888G>A	ENST00000258662.2	+	1	186	c.6G>A	c.(4-6)acG>acA	p.T2T	SUCLA2_ENST00000543413.1_5'UTR	NM_018283.1	NP_060753.1	Q9NV35	NUD15_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 15	2					dGTP catabolic process (GO:0006203)|GTP catabolic process (GO:0006184)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity (GO:0035539)|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity (GO:0008413)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7		all_cancers(8;3.75e-25)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|all_hematologic(8;0.000219)|Lung NSC(96;0.000226)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;4.83e-07)		GCGCTATGACGGCCAGCGCAC	0.721											OREG0022405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000258662.2																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7						c.(4-6)acG>acA		nudix (nucleoside diphosphate linked moiety X)-type motif 15							9	12	11					13																	48611888		2159	4195	6354	SO:0001819	synonymous_variant	55270						hydrolase activity|metal ion binding	g.chr13:48611888G>A		CCDS9407.1	13q14.12	2006-04-12			ENSG00000136159	ENSG00000136159		"Nudix motif containing"	23063	protein-coding gene	gene with protein product		615792				12767940	Standard	NM_018283		Approved	MTH2, FLJ10956	uc001vbw.1	Q9NV35	OTTHUMG00000016890	ENST00000258662.2:c.6G>A	13.37:g.48611888G>A			OREG0022405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	955	SUCLA2_ENST00000543413.1_5'UTR	p.T2T	NM_018283.1	NP_060753.1	Q9NV35	NUD15_HUMAN		GBM - Glioblastoma multiforme(144;4.83e-07)	1	186	+		all_cancers(8;3.75e-25)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|all_hematologic(8;0.000219)|Lung NSC(96;0.000226)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)	2					A2RUR6|Q32Q27|Q6P2C9	Silent	SNP	ENST00000258662.2	37	c.6G>A	CCDS9407.1																																																																																				0.721	NUDT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044862.3	NM_018283		3	0	0	0	0	0.004672	0	3	0					A	48611888	G	A	48611888	2	1	31	1	0	0	0	0	0	0	0	1	10731	1103	39	1		1	NUDT15	13	48611888	Silent	SNP	G	TCGA-BJ-A3EZ-01A-11D-A202-08		48611888	66557990	19	853											
KIAA0556	23247	broad.mit.edu	37	chr16	27763240	27763240	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aggctggcttgggggctgatGaacgggtaggactggagctg	20	6	0	2			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr16:27763240G>C	ENST00000261588.4	+	17	3566	c.3547G>C	c.(3547-3549)Gaa>Caa	p.E1183Q		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1183						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GGGGGCTGATGAACGGGTAGG	0.612																																						ENST00000261588.4																			0				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(3547-3549)Gaa>Caa		KIAA0556							22	24	23					16																	27763240		2191	4297	6488	SO:0001583	missense	23247							g.chr16:27763240G>C	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.3547G>C	16.37:g.27763240G>C	ENSP00000261588:p.Glu1183Gln						p.E1183Q	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			17	3566	+			1183					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.3547G>C	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	G	7.603	0.673236	0.14776	.	.	ENSG00000047578	ENST00000261588	T	0.10005	2.92	5.02	5.02	0.67125	.	0.327247	0.31404	N	0.007701	T	0.06096	0.0158	N	0.14661	0.345	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.33904	-0.9850	10	0.23891	T	0.37	-17.1038	8.2031	0.31436	0.0821:0.0:0.76:0.1579	.	1183	O60303	K0556_HUMAN	Q	1183	ENSP00000261588:E1183Q	ENSP00000261588:E1183Q	E	+	1	0	KIAA0556	27670741	0.825000	0.29262	0.015000	0.15790	0.007000	0.05969	2.663000	0.46774	2.468000	0.83385	0.585000	0.79938	GAA		0.612	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		22	20	0	0	0	0.001523	0	22	20					C	27763240	G	C	27763240	3	2	31	1	0	0	0	0	1	0	0	0	8183	1291	45	4	3613	4	KIAA0556	16	27763240	Missense_Mutation	SNP	G	TCGA-BJ-A3EZ-01A-11D-A202-08		27763240	62591513	20	854											
ZNF48	197407	broad.mit.edu	37	chr16	30409512	30409512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtggaaaggagtttgcccGgggatccgacctggtgaagc	17	8	0	1	rs145091254		TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr16:30409512G>A	ENST00000320159.2	+	2	1317	c.941G>A	c.(940-942)cGg>cAg	p.R314Q	SEPT1_ENST00000570039.1_5'Flank	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	314					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(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						GAGTTTGCCCGGGGATCCGAC	0.622																																						ENST00000320159.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						c.(940-942)cGg>cAg		zinc finger protein 48		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4393	2.1+/-5.4	0,1,2196	88	100	96		941,572,941,941	4.9	1.0	16	dbSNP_134	96	0,8600		0,0,4300	no	missense,missense,missense,missense	ZNF48	NM_001214906.1,NM_001214907.1,NM_001214909.1,NM_152652.2	43,43,43,43	0,1,6496	AA,AG,GG		0.0,0.0228,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	314/619,191/496,314/619,314/619	30409512	1,12993	2197	4300	6497	SO:0001583	missense	197407				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30409512G>A	M88358, AK056313	CCDS10679.1, CCDS73868.1	16p11.2	2013-01-08			ENSG00000180035	ENSG00000180035		"Zinc fingers, C2H2-type"	13114	protein-coding gene	gene with protein product			"zinc finger protein 553"	ZNF553		1505991	Standard	NM_152652		Approved	DKFZp762K013, FLJ31751, MGC43952	uc021tgi.1	Q96MX3	OTTHUMG00000048195	ENST00000320159.2:c.941G>A	16.37:g.30409512G>A	ENSP00000324056:p.Arg314Gln						p.R314Q	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN			2	1317	+			314					Q15920|Q4G0R3|Q69YP3|Q96IL9	Missense_Mutation	SNP	ENST00000320159.2	37	c.941G>A	CCDS10679.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.733793	0.30684	2.28E-4	0.0	ENSG00000180035	ENST00000495929;ENST00000320159	T	0.14893	2.47	4.93	4.93	0.64822	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37012	N	0.002281	T	0.15696	0.0378	N	0.05619	-0.0049999999999999	0.23640	N	0.997222	D	0.76494	0.999	D	0.87578	0.998	T	0.23547	-1.0185	10	0.05351	T	0.99	-12.9205	9.1161	0.36758	0.0971:0.0:0.9029:0.0	.	314	Q96MX3	ZNF48_HUMAN	Q	439;314	ENSP00000324056:R314Q	ENSP00000324056:R314Q	R	+	2	0	ZNF48	30317013	0.000000	0.05858	1.000000	0.80357	0.976000	0.68499	-0.318000	0.08050	2.565000	0.86533	0.467000	0.42956	CGG		0.622	ZNF48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255549.2	NM_152652		43	42	0	0	0	0.002522	0	43	42					A	30409512	G	A	30409512	3	1	31	1	0	0	0	0	1	0	0	0	17931	1116	39	1	947	1	ZNF48	16	30409512	Missense_Mutation	SNP	G	TCGA-BJ-A3EZ-01A-11D-A202-08	2646272	30409512	59945241	21	855											
CIRH1A	84916	broad.mit.edu	37	chr16	69200994	69200994	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagccccttccaaatgacaAaaccttactctacaatccat	2	14	1	1			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr16:69200994A>G	ENST00000314423.7	+	16	2027	c.1850A>G	c.(1849-1851)aAa>aGa	p.K617R	CIRH1A_ENST00000563094.1_3'UTR|CIRH1A_ENST00000352319.4_Missense_Mutation_p.K502R			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	617					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		CCAAATGACAAAACCTTACTC	0.378																																					Melanoma(69;1156 1278 4951 8715 52012)	ENST00000314423.7																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16						c.(1849-1851)aAa>aGa		cirrhosis, autosomal recessive 1A (cirhin)							120	120	120					16																	69200994		2198	4300	6498	SO:0001583	missense	84916					nucleolus	protein binding	g.chr16:69200994A>G	AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"WD repeat domain containing"	1983	protein-coding gene	gene with protein product	"UTP4, small subunit (SSU) processome component, homolog (yeast)"	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.1850A>G	16.37:g.69200994A>G	ENSP00000327179:p.Lys617Arg					CIRH1A_ENST00000352319.4_Missense_Mutation_p.K502R|CIRH1A_ENST00000563094.1_3'UTR	p.K617R			Q969X6	CIR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.125)	16	2027	+			617					Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Missense_Mutation	SNP	ENST00000314423.7	37	c.1850A>G	CCDS10872.1	.	.	.	.	.	.	.	.	.	.	A	14.01	2.407630	0.42715	.	.	ENSG00000141076	ENST00000314423;ENST00000352319	T;T	0.38887	1.63;1.11	6.03	4.93	0.64822	.	0.090395	0.85682	N	0.000000	T	0.39911	0.1096	M	0.65975	2.015	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.19192	-1.0313	10	0.26408	T	0.33	.	10.5758	0.45227	0.924:0.0:0.076:0.0	.	617	Q969X6	CIR1A_HUMAN	R	617;502	ENSP00000327179:K617R;ENSP00000339164:K502R	ENSP00000327179:K617R	K	+	2	0	CIRH1A	67758495	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.457000	0.45005	1.090000	0.41315	0.533000	0.62120	AAA		0.378	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2	NM_032830		59	70	0	0	0	0.00361	0	59	70					G	69200994	A	G	69200994	3	3	31	1	0	0	0	0	1	0	0	0	3434	14	1	3	1908	3	CIRH1A	16	69200994	Missense_Mutation	SNP	A	TCGA-BJ-A3EZ-01A-11D-A202-08	38791482	69200994	21153759	22	856											
ARHGEF15	22899	broad.mit.edu	37	chr17	8218800	8218800	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggctgctgaccgacaccttCgtgctgagccaggcactccg	12	16	0	2			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr17:8218800C>T	ENST00000361926.3	+	7	1439	c.1329C>T	c.(1327-1329)ttC>ttT	p.F443F	AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000421050.1_Silent_p.F443F	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	443	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CCGACACCTTCGTGCTGAGCC	0.617																																						ENST00000361926.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(1327-1329)ttC>ttT		Rho guanine nucleotide exchange factor (GEF) 15							117	105	109					17																	8218800		2203	4300	6503	SO:0001819	synonymous_variant	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8218800C>T	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"Rho guanine nucleotide exchange factors"	15590	protein-coding gene	gene with protein product	"Rho guanine exchange factor (GEF) 15"	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.1329C>T	17.37:g.8218800C>T						ARHGEF15_ENST00000421050.1_Silent_p.F443F	p.F443F	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			7	1439	+			443			DH.		A8K6G1|Q8N449|Q9H8B4	Silent	SNP	ENST00000361926.3	37	c.1329C>T	CCDS11139.1																																																																																				0.617	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		50	127	0	0	0	0.00361	0	50	127					T	8218800	C	T	8218800	2	4	31	1	0	0	0	0	0	0	0	1	898	883	31	1		1	ARHGEF15	17	8218800	Silent	SNP	C	TCGA-BJ-A3EZ-01A-11D-A202-08		8218800	72976410	23	857											
DNAH9	1770	broad.mit.edu	37	chr17	11757354	11757354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgaagtcatttggctctcCgcctctggccgtcagcaatg	11	13	4	1			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr17:11757354C>T	ENST00000262442.4	+	50	9610	c.9542C>T	c.(9541-9543)cCg>cTg	p.P3181L	DNAH9_ENST00000454412.2_Missense_Mutation_p.P3181L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3181	Stalk. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.P3181Q(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTTGGCTCTCCGCCTCTGGCC	0.572																																						ENST00000262442.3																			1	Substitution - Missense(1)	p.P3181Q(1)	lung(1)	NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(9541-9543)cCg>cTg		dynein, axonemal, heavy chain 9							81	80	80					17																	11757354		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11757354C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.9542C>T	17.37:g.11757354C>T	ENSP00000262442:p.Pro3181Leu					DNAH9_ENST00000454412.2_Missense_Mutation_p.P3181L	p.P3181L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	50	9610	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3181			Stalk (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.9542C>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797725	0.70567	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	D;D	0.81996	-1.56;-1.56	5.49	5.49	0.81192	Dynein heavy chain, coiled coil stalk (1);	0.126189	0.53938	D	0.000054	D	0.95535	0.8549	H	0.99273	4.495	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97072	0.9778	10	0.87932	D	0	.	19.5721	0.95425	0.0:1.0:0.0:0.0	.	3181	Q9NYC9	DYH9_HUMAN	L	3181;3181;1763	ENSP00000262442:P3181L;ENSP00000414874:P3181L	ENSP00000262442:P3181L	P	+	2	0	DNAH9	11698079	1.000000	0.71417	0.260000	0.24451	0.477000	0.33069	7.278000	0.78587	2.857000	0.98124	0.650000	0.86243	CCG		0.572	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		36	47	0	0	0	0.00623	0	36	47					T	11757354	C	T	11757354	3	4	31	1	0	0	0	0	1	0	0	0	4608	652	23	1	9740	1	DNAH9	17	11757354	Missense_Mutation	SNP	C	TCGA-BJ-A3EZ-01A-11D-A202-08	3538554	11757354	69437856	24	858											
FLII	2314	broad.mit.edu	37	chr17	18149316	18149316	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caacttggcttcgtcagggtCtgatgcccggcccacccagg	12	15	2	1			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr17:18149316C>T	ENST00000327031.4	-	26	3553	c.3328G>A	c.(3328-3330)Gac>Aac	p.D1110N	FLII_ENST00000578558.1_Intron|FLII_ENST00000579294.1_Missense_Mutation_p.D1099N|FLII_ENST00000545457.2_Missense_Mutation_p.D1055N|FLII_ENST00000379450.4_Missense_Mutation_p.D1024N	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	1110					multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					TCGTCAGGGTCTGATGCCCGG	0.617																																						ENST00000327031.4																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(3328-3330)Gac>Aac		flightless I homolog (Drosophila)							88	80	83					17																	18149316		2203	4300	6503	SO:0001583	missense	2314				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	g.chr17:18149316C>T	U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"flightless I (Drosophila) homolog"			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.3328G>A	17.37:g.18149316C>T	ENSP00000324573:p.Asp1110Asn					FLII_ENST00000579294.1_Missense_Mutation_p.D1099N|FLII_ENST00000578558.1_Intron|FLII_ENST00000379450.4_Missense_Mutation_p.D1024N|FLII_ENST00000545457.2_Missense_Mutation_p.D1055N	p.D1110N	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN			26	3553	-	all_neural(463;0.228)		1110					B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	ENST00000327031.4	37	c.3328G>A	CCDS11192.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.610013	0.66558	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T	0.20069	2.1;2.1	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.27731	0.0682	L	0.42686	1.345	0.80722	D	1	B;B;B;B	0.28783	0.206;0.206;0.024;0.222	B;B;B;B	0.38428	0.043;0.043;0.015;0.273	T	0.02713	-1.1120	10	0.28530	T	0.3	-37.4009	19.7945	0.96474	0.0:1.0:0.0:0.0	.	1024;1024;1110;1079	E7EPM0;B4DIL0;Q13045;B4DIX0	.;.;FLII_HUMAN;.	N	1110;989;1024	ENSP00000324573:D1110N;ENSP00000368763:D1024N	ENSP00000324573:D1110N	D	-	1	0	FLII	18090041	1.000000	0.71417	0.957000	0.39632	0.995000	0.86356	7.090000	0.76916	2.690000	0.91761	0.655000	0.94253	GAC		0.617	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		21	43	0	0	0	0.00278	0	21	43					T	18149316	C	T	18149316	3	4	31	1	0	0	0	0	1	0	0	0	5925	913	32	2	501	2	FLII	17	18149316	Missense_Mutation	SNP	C	TCGA-BJ-A3EZ-01A-11D-A202-08	6391962	18149316	63045894	25	859											
DHX8	1659	broad.mit.edu	37	chr17	41585706	41585706	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgttctattctgctcgtaGgtgatatcctggtcttcctg	9	9	3	1			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr17:41585706G>A	ENST00000262415.3	+	16	2392		c.e16-1		DHX8_ENST00000540306.1_Splice_Site	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8						ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TCTGCTCGTAGGTGATATCCT	0.388																																					NSCLC(56;1548 1661 49258 49987)	ENST00000262415.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.e16-1		DEAH (Asp-Glu-Ala-His) box polypeptide 8							135	128	130					17																	41585706		2203	4300	6503	SO:0001630	splice_region_variant	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41585706G>A	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"DEAH-boxes"	2749	protein-coding gene	gene with protein product		600396	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.2321-1G>A	17.37:g.41585706G>A						DHX8_ENST00000540306.1_Splice_Site		NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	16	2392	+		Breast(137;0.00908)							Splice_Site	SNP	ENST00000262415.3	37		CCDS11464.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801881	0.70682	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3255	0.90252	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DHX8	38941232	1.000000	0.71417	0.998000	0.56505	0.827000	0.46813	9.620000	0.98373	2.571000	0.86741	0.561000	0.74099	.		0.388	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1		Intron	43	84	0	0	0	0.002852	0	43	84					A	41585706	G	A	41585706	5	1	31	1	0	0	0	0	0	0	1	0	4515	1014	35	2	2382	2	DHX8	17	41585706	Splice_Site	SNP	G	TCGA-BJ-A3EZ-01A-11D-A202-08	23436390	41585706	39609504	26	860											
CYTH1	9267	broad.mit.edu	37	chr17	76695039	76695039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgatggcaaaggagaggaCgtaacaagtatctaaagatg	13	4	1	3			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr17:76695039C>T	ENST00000446868.3	-	8	632	c.562G>A	c.(562-564)Gtc>Atc	p.V188I	CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000591455.1_Missense_Mutation_p.V188I|CYTH1_ENST00000585509.1_Missense_Mutation_p.V129I|CYTH1_ENST00000361101.4_Missense_Mutation_p.V188I|CYTH1_ENST00000589297.1_Missense_Mutation_p.V129I|RNU6-638P_ENST00000516582.1_RNA			Q15438	CYH1_HUMAN	cytohesin 1	188	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				establishment of epithelial cell polarity (GO:0090162)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						AAGGAGAGGACGTAACAAGTA	0.478																																						ENST00000589297.1																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						c.(385-387)Gtc>Atc		cytohesin 1							203	197	199					17																	76695039		2203	4300	6503	SO:0001583	missense	9267				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr17:76695039C>T	M85169	CCDS32754.1, CCDS42392.2	17q25	2014-05-02	2008-08-14	2008-08-14	ENSG00000108669	ENSG00000108669		"Pleckstrin homology (PH) domain containing"	9501	protein-coding gene	gene with protein product		182115	"pleckstrin homology, Sec7 and coiled-coil domains 1"	PSCD1		1511013, 8449036, 21628335, 20018626	Standard	XM_006722180		Approved	B2-1, D17S811E, cytohesin-1	uc002jvw.3	Q15438	OTTHUMG00000150253	ENST00000446868.3:c.562G>A	17.37:g.76695039C>T	ENSP00000389095:p.Val188Ile					CYTH1_ENST00000446868.3_Missense_Mutation_p.V188I|CYTH1_ENST00000591455.1_Missense_Mutation_p.V188I|CYTH1_ENST00000361101.4_Missense_Mutation_p.V188I|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000585509.1_Missense_Mutation_p.V129I	p.V129I			Q15438	CYH1_HUMAN			8	1077	-			188			SEC7.		A6NFW7|B7Z1T4|Q9P123|Q9P124	Missense_Mutation	SNP	ENST00000446868.3	37	c.385G>A		.	.	.	.	.	.	.	.	.	.	C	14.26	2.481344	0.44147	.	.	ENSG00000108669	ENST00000446868;ENST00000361101;ENST00000539525;ENST00000537048;ENST00000262763;ENST00000392453	T;T	0.52057	0.68;0.68	5.34	5.34	0.76211	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.056226	0.64402	D	0.000001	T	0.34890	0.0913	N	0.22421	0.69	0.49915	D	0.999838	B;B	0.15141	0.012;0.01	B;B	0.23419	0.046;0.044	T	0.12091	-1.0561	10	0.31617	T	0.26	.	12.4059	0.55439	0.0:0.9231:0.0:0.0769	.	188;188	Q15438;Q15438-2	CYH1_HUMAN;.	I	188;188;129;129;188;25	ENSP00000389095:V188I;ENSP00000354398:V188I	ENSP00000262763:V188I	V	-	1	0	CYTH1	74206634	1.000000	0.71417	0.995000	0.50966	0.945000	0.59286	3.853000	0.55941	2.475000	0.83589	0.591000	0.81541	GTC		0.478	CYTH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317099.1	NM_004762		7	232	0	0	0	0.008291	0	7	232					T	76695039	C	T	76695039	3	4	31	1	0	0	0	0	1	0	0	0	4203	536	19	1	658	1	CYTH1	17	76695039	Missense_Mutation	SNP	C	TCGA-BJ-A3EZ-01A-11D-A202-08	35109333	76695039	4500171	27	861											
ARRDC5	645432	broad.mit.edu	37	chr19	4891083	4891083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggtgatctgggttcacgGgtaacactccgtcctctgac	11	12	4	2			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr19:4891083G>A	ENST00000381781.2	-	3	1003	c.1004C>T	c.(1003-1005)cCc>cTc	p.P335L	AC027319.1_ENST00000408608.1_RNA	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	335										endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		TGGGTTCACGGGTAACACTCC	0.512																																						ENST00000381781.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						c.(1003-1005)cCc>cTc		arrestin domain containing 5							76	78	77					19																	4891083		2028	4195	6223	SO:0001583	missense	645432				signal transduction			g.chr19:4891083G>A		CCDS45929.1	19p13.3	2007-10-05				ENSG00000205784			31407	protein-coding gene	gene with protein product						12886014	Standard	NM_001080523		Approved		uc002mbm.3	A6NEK1		ENST00000381781.2:c.1004C>T	19.37:g.4891083G>A	ENSP00000371200:p.Pro335Leu						p.P335L	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)	3	1003	-			335						Missense_Mutation	SNP	ENST00000381781.2	37	c.1004C>T	CCDS45929.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.644392	0.29246	.	.	ENSG00000205784	ENST00000381781	T	0.23552	1.9	3.13	3.13	0.36017	Immunoglobulin E-set (1);	.	.	.	.	T	0.19127	0.0459	L	0.27053	0.805	0.09310	N	1	B	0.25351	0.124	B	0.24701	0.055	T	0.15321	-1.0441	9	0.87932	D	0	-6.9293	9.9844	0.41832	0.0:0.0:1.0:0.0	.	335	A6NEK1	ARRD5_HUMAN	L	335	ENSP00000371200:P335L	ENSP00000371200:P335L	P	-	2	0	ARRDC5	4842083	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	0.332000	0.19751	2.076000	0.62316	0.650000	0.86243	CCC		0.512	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450443.1	XM_292803		38	56	0	0	0	0.005524	0	38	56					A	4891083	G	A	4891083	3	1	31	1	0	0	0	0	1	0	0	0	986	1232	43	2	28	2	ARRDC5	19	4891083	Missense_Mutation	SNP	G	TCGA-BJ-A3EZ-01A-11D-A202-08		4891083	54237900	28	862											
ZNF337	26152	broad.mit.edu	37	chr20	25656557	25656557	+	Frame_Shift_Del	DEL	T	T	-													tgcacacaaaaggcttctccTctgagtgtgtgatctgatgt							TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr20:25656557delT	ENST00000376436.1	-	4	1906	c.1367delA	c.(1366-1368)gagfs	p.E457fs	RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.E457fs|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.E425fs|ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	457					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(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGGCTTCTCCTCTGAGTGTGT	0.453																																						ENST00000376436.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1366-1368)ggfs		zinc finger protein 337							154	132	139					20																	25656557		2203	4300	6503	SO:0001589	frameshift_variant	26152							g.chr20:25656557delT		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"Zinc fingers, C2H2-type", "-"	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.1367delA	20.37:g.25656557delT	ENSP00000365619:p.Glu457fs					RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.E425fs|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.E457fs	p.E457fs							4	1906	-								B4DSM2|Q9Y3Y5	Frame_Shift_Del	DEL	ENST00000376436.1	37	c.1367delA	CCDS13174.1																																																																																				0.453	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			99	132						99	132	---	---	---	---	-	25656557	T	-	25656557	7	5	31	1	0	1	0	1	0	0	0	0	17850	1551	54	0	892	0	ZNF337	20	25656557	Frame_Shift_Del	DEL	T	TCGA-BJ-A3EZ-01A-11D-A202-08		25656557	37368963	29	863											
SRC	6714	broad.mit.edu	37	chr20	36031692	36031692	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgctggcggaaggagcctgaGgagcggcccaccttcgagta	16	11	0	1			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr20:36031692G>C	ENST00000373578.2	+	14	1870	c.1521G>C	c.(1519-1521)gaG>gaC	p.E507D	SRC_ENST00000477066.1_3'UTR|SRC_ENST00000373567.2_Missense_Mutation_p.E507D|SRC_ENST00000360723.4_Missense_Mutation_p.E513D|SRC_ENST00000373558.2_Missense_Mutation_p.E513D|SRC_ENST00000445403.1_Missense_Mutation_p.E507D|SRC_ENST00000358208.4_Missense_Mutation_p.E507D	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	SRC proto-oncogene, non-receptor tyrosine kinase	507	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cellular response to progesterone stimulus (GO:0071393)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|membrane organization (GO:0061024)|negative regulation of anoikis (GO:2000811)|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)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of protein homooligomerization (GO:0032463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oogenesis (GO:0048477)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of integrin activation (GO:0033625)|positive regulation of podosome assembly (GO:0071803)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone receptor signaling pathway (GO:0050847)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of bone resorption (GO:0045124)|regulation of caveolin-mediated endocytosis (GO:2001286)|regulation of cell-cell adhesion (GO:0022407)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of epithelial cell migration (GO:0010632)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of protein binding (GO:0043393)|regulation of vascular permeability (GO:0043114)|response to interleukin-1 (GO:0070555)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|T cell costimulation (GO:0031295)|transforming growth factor beta receptor signaling pathway (GO:0007179)|uterus development (GO:0060065)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|growth factor receptor binding (GO:0070851)|heme binding (GO:0020037)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Bosutinib(DB06616)|Dasatinib(DB01254)|Ponatinib(DB08901)	AGGAGCCTGAGGAGCGGCCCA	0.677																																						ENST00000373578.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(1519-1521)gaG>gaC		v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog	Dasatinib(DB01254)						48	38	41					20																	36031692		2202	4300	6502	SO:0001583	missense	6714				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity	g.chr20:36031692G>C	AF077754	CCDS13294.1	20q12-q13	2014-06-25	2014-06-25		ENSG00000197122	ENSG00000197122		"SH2 domain containing"	11283	protein-coding gene	gene with protein product		190090	"v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog"	SRC1		2582238	Standard	NM_005417		Approved	ASV, c-src	uc002xgy.3	P12931	OTTHUMG00000032417	ENST00000373578.2:c.1521G>C	20.37:g.36031692G>C	ENSP00000362680:p.Glu507Asp					SRC_ENST00000373567.2_Missense_Mutation_p.E507D|SRC_ENST00000360723.4_Missense_Mutation_p.E513D|SRC_ENST00000445403.1_Missense_Mutation_p.E507D|SRC_ENST00000358208.4_Missense_Mutation_p.E507D|SRC_ENST00000477066.1_3'UTR|SRC_ENST00000373558.2_Missense_Mutation_p.E513D	p.E507D	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN			14	1870	+		Myeloproliferative disorder(115;0.00878)	507			Protein kinase.		E1P5V4|Q76P87|Q86VB9|Q9H5A8	Missense_Mutation	SNP	ENST00000373578.2	37	c.1521G>C	CCDS13294.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.884682	0.33255	.	.	ENSG00000197122	ENST00000445403;ENST00000373578;ENST00000360723;ENST00000358208;ENST00000373567;ENST00000373558	D;D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76;-1.76	4.49	1.45	0.22620	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.75273	0.3827	N	0.04805	-0.155	0.80722	D	1	P	0.45827	0.867	D	0.64144	0.922	T	0.69610	-0.5099	10	0.32370	T	0.25	.	5.5604	0.17140	0.1825:0.0:0.655:0.1625	.	507	P12931	SRC_HUMAN	D	507;507;513;507;507;513	ENSP00000408503:E507D;ENSP00000362680:E507D;ENSP00000353950:E513D;ENSP00000350941:E507D;ENSP00000362668:E507D;ENSP00000362659:E513D	ENSP00000350941:E507D	E	+	3	2	SRC	35465106	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	1.254000	0.32897	0.612000	0.30071	0.561000	0.74099	GAG		0.677	SRC-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268142.1	NM_005417		3	15	0	0	0	0.004672	0	3	15					C	36031692	G	C	36031692	3	2	31	1	0	0	0	0	1	0	0	0	15133	991	35	4	1563	4	SRC	20	36031692	Missense_Mutation	SNP	G	TCGA-BJ-A3EZ-01A-11D-A202-08	10375135	36031692	26993828	30	864											
USP9Y	8287	broad.mit.edu	37	chrY	14924964	14924964	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agactgtttgactgaaatgtAttacatgggcacagcaatta	9	6	0	3			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chrY:14924964A>C	ENST00000338981.3	+	31	5531	c.4586A>C	c.(4585-4587)tAt>tCt	p.Y1529S	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	1529					BMP signaling pathway (GO:0030509)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)	co-SMAD binding (GO:0070410)|cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ACTGAAATGTATTACATGGGC	0.333																																						ENST00000338981.3																			0				kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(4585-4587)tAt>tCt		ubiquitin specific peptidase 9, Y-linked							51	47	48					Y																	14924964		599	1931	2530	SO:0001583	missense	8287				BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrY:14924964A>C	Y13618	CCDS14781.1	Yq11.2	2010-04-09	2009-03-17		ENSG00000114374	ENSG00000114374		"Ubiquitin-specific peptidases"	12633	protein-coding gene	gene with protein product	"fat facets-like homolog (Drosophila)"	400005	"ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)"			8922996, 9384609, 19246359	Standard	NM_004654		Approved	DFFRY	uc004fst.1	O00507	OTTHUMG00000036469	ENST00000338981.3:c.4586A>C	Y.37:g.14924964A>C	ENSP00000342812:p.Tyr1529Ser					USP9Y_ENST00000426564.2_3'UTR	p.Y1529S	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN			31	5531	+			1529					O14601	Missense_Mutation	SNP	ENST00000338981.3	37	c.4586A>C	CCDS14781.1																																																																																				0.333	USP9Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088703.2	NM_004654		29	8	0	0	0	0.008361	0	29	8					C	14924964	A	C	14924964	3	2	31	1	0	0	0	0	1	0	0	0	17088	449	16	5	4700	5	USP9Y	24	14924964	Missense_Mutation	SNP	A	TCGA-BJ-A3EZ-01A-11D-A202-08		14924964	44448602	31	865											
BAI2	576	broad.mit.edu	37	chr1	32207698	32207698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgggtgtcagtgagggcaCccgtgcatgtggcccaggct	16	13	1	1			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr1:32207698C>T	ENST00000373658.3	-	8	1714	c.1373G>A	c.(1372-1374)gGt>gAt	p.G458D	BAI2_ENST00000398542.1_Missense_Mutation_p.G391D|BAI2_ENST00000527361.1_Missense_Mutation_p.G458D|BAI2_ENST00000398556.3_Missense_Mutation_p.G406D|BAI2_ENST00000398538.1_Missense_Mutation_p.G446D|BAI2_ENST00000440175.2_Missense_Mutation_p.G100D|BAI2_ENST00000257070.4_Missense_Mutation_p.G458D|BAI2_ENST00000373655.2_Missense_Mutation_p.G458D|BAI2_ENST00000398547.1_Missense_Mutation_p.G391D	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	458	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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)		AGTGAGGGCACCCGTGCATGT	0.677																																						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.(1372-1374)gGt>gAt		brain-specific angiogenesis inhibitor 2							30	35	34					1																	32207698		2203	4300	6503	SO:0001583	missense	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32207698C>T	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.1373G>A	1.37:g.32207698C>T	ENSP00000362762:p.Gly458Asp					BAI2_ENST00000527361.1_Missense_Mutation_p.G458D|BAI2_ENST00000398538.1_Missense_Mutation_p.G446D|BAI2_ENST00000398547.1_Missense_Mutation_p.G391D|BAI2_ENST00000440175.2_Missense_Mutation_p.G100D|BAI2_ENST00000373655.2_Missense_Mutation_p.G458D|BAI2_ENST00000398542.1_Missense_Mutation_p.G391D|BAI2_ENST00000257070.4_Missense_Mutation_p.G458D|BAI2_ENST00000398556.3_Missense_Mutation_p.G406D	p.G458D	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	8	1714	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	458			TSP type-1 3.		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	c.1373G>A	CCDS346.2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.202795	0.79127	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51	4.1	3.19	0.36642	.	0.209202	0.24247	N	0.040215	T	0.75561	0.3866	M	0.91612	3.225	0.53688	D	0.99997	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0;1.0;1.0	T	0.79619	-0.1728	10	0.72032	D	0.01	.	11.0446	0.47850	0.0:0.9064:0.0:0.0936	.	391;458;446;100;391;458;458	A2A3C3;O60241-4;O60241-3;B4DKC3;A2A3C1;O60241-2;O60241	.;.;.;.;.;.;BAI2_HUMAN	D	406;391;458;458;391;458;458;100;446;396;437	ENSP00000381564:G406D;ENSP00000381555:G391D;ENSP00000362762:G458D;ENSP00000362759:G458D;ENSP00000381550:G391D;ENSP00000257070:G458D;ENSP00000435397:G458D;ENSP00000391071:G100D;ENSP00000381548:G446D;ENSP00000410921:G396D;ENSP00000437219:G437D	ENSP00000257070:G458D	G	-	2	0	BAI2	31980285	1.000000	0.71417	0.477000	0.27303	0.991000	0.79684	4.793000	0.62474	1.079000	0.41038	0.561000	0.74099	GGT		0.677	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		4	38	0	0	0	0.150653	0	4	38					T	32207698	C	T	32207698	3	4	32	1	0	0	0	0	1	0	0	0	1299	507	18	2	3488	2	BAI2	1	32207698	Missense_Mutation	SNP	C	TCGA-BJ-A3F0-01A-11D-A202-08		32207698	217042923	1	866											
NPAS2	4862	broad.mit.edu	37	chr2	101564729	101564729	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatcagaatttgttaaatttCctcccagaacaagaacattc	5	9	1	3			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr2:101564729C>T	ENST00000335681.5	+	6	681	c.396C>T	c.(394-396)ttC>ttT	p.F132F	NPAS2_ENST00000486017.1_3'UTR|NPAS2_ENST00000542504.1_Silent_p.F197F	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	132	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGTTAAATTTCCTCCCAGAAC	0.348																																						ENST00000335681.5																			0				cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(394-396)ttC>ttT		neuronal PAS domain protein 2							116	113	114					2																	101564729		2203	4300	6503	SO:0001819	synonymous_variant	4862				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:101564729C>T	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"Basic helix-loop-helix proteins"	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.396C>T	2.37:g.101564729C>T						NPAS2_ENST00000542504.1_Silent_p.F197F|NPAS2_ENST00000486017.1_3'UTR	p.F132F	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN			6	681	+			132			PAS 1.		Q4ZFV9|Q53SQ3|Q86V96|Q99629	Silent	SNP	ENST00000335681.5	37	c.396C>T	CCDS2048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.880|7.880	0.730047|0.730047	0.15507|0.15507	.|.	.|.	ENSG00000170485|ENSG00000170485	ENST00000448812|ENST00000427413	.|.	.|.	.|.	4.97|4.97	4.1|4.1	0.47936|0.47936	.|.	.|.	.|.	.|.	.|.	T|T	0.59998|0.59998	0.2235|0.2235	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.57458|0.57458	-0.7808|-0.7808	4|4	.|.	.|.	.|.	.|.	9.8791|9.8791	0.41222|0.41222	0.0:0.8442:0.0:0.1558|0.0:0.8442:0.0:0.1558	.|.	.|.	.|.	.|.	S|F	122|198	.|.	.|.	P|S	+|+	1|2	0|0	NPAS2|NPAS2	100931161|100931161	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	1.996000|1.996000	0.40776|0.40776	1.309000|1.309000	0.44985|0.44985	0.650000|0.650000	0.86243|0.86243	CCT|TCC		0.348	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3			32	47	0	0	0	0.788014	0	32	47					T	101564729	C	T	101564729	2	4	32	1	0	0	0	0	0	0	0	1	10563	854	30	2		2	NPAS2	2	101564729	Silent	SNP	C	TCGA-BJ-A3F0-01A-11D-A202-08		101564729	141634644	2	867											
DHX30	22907	broad.mit.edu	37	chr3	47890987	47890987	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggaagttcaagcccaacaGcgtcacatataggaccaaat	10	10	2	0			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr3:47890987G>T	ENST00000445061.1	+	20	3541	c.3134G>T	c.(3133-3135)aGc>aTc	p.S1045I	MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000446256.2_Missense_Mutation_p.S1006I|DHX30_ENST00000457607.1_Missense_Mutation_p.S1073I|DHX30_ENST00000348968.4_Missense_Mutation_p.S1017I	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	1045						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AAGCCCAACAGCGTCACATAT	0.592																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(3016-3018)aGc>aTc		DEAH (Asp-Glu-Ala-His) box helicase 30							90	82	85					3																	47890987		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47890987G>T	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"DEAH-boxes"	16716	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30", "DEAH (Asp-Glu-Ala-His) box polypeptide 30"	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.3134G>T	3.37:g.47890987G>T	ENSP00000405620:p.Ser1045Ile					DHX30_ENST00000457607.1_Missense_Mutation_p.S1073I|DHX30_ENST00000348968.4_Missense_Mutation_p.S1017I|DHX30_ENST00000445061.1_Missense_Mutation_p.S1045I	p.S1006I	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	21	3589	+			1045					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.3017G>T	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.448366	0.43429	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03496	3.92;3.92;3.92;3.91	5.25	4.38	0.52667	Domain of unknown function DUF1605 (1);	0.090751	0.64402	D	0.000001	T	0.06872	0.0175	M	0.64997	1.995	0.46478	D	0.999065	B;B	0.30634	0.288;0.232	B;B	0.34038	0.174;0.113	T	0.11084	-1.0602	10	0.56958	D	0.05	.	12.581	0.56390	0.0794:0.0:0.9206:0.0	.	1045;1006	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	I	1006;1045;1017;1073	ENSP00000392601:S1006I;ENSP00000405620:S1045I;ENSP00000343442:S1017I;ENSP00000394682:S1073I	ENSP00000343442:S1017I	S	+	2	0	DHX30	47865991	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.899000	0.69846	1.215000	0.43411	0.655000	0.94253	AGC		0.592	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		4	54	1	0	0.00024832	0.150653	0.000256883	4	54					T	47890987	G	T	47890987	3	4	32	1	0	0	0	0	1	0	0	0	4504	971	34	4	3215	4	DHX30	3	47890987	Missense_Mutation	SNP	G	TCGA-BJ-A3F0-01A-11D-A202-08		47890987	150131443	3	868											
TIPARP	25976	broad.mit.edu	37	chr3	156421217	156421217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctctccattttaggacaCttggtggggttcccacacaa	8	12	1	0	rs1137515		TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr3:156421217C>T	ENST00000461166.1	+	5	1840	c.1252C>T	c.(1252-1254)Ctt>Ttt	p.L418F	TIPARP_ENST00000486483.1_Missense_Mutation_p.L418F|TIPARP_ENST00000295924.7_Missense_Mutation_p.L418F|TIPARP_ENST00000542783.1_Missense_Mutation_p.L418F	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	418					androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTTTAGGACACTTGGTGGGGT	0.383																																					Ovarian(171;276 1987 3319 6837 11197)	ENST00000461166.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23						c.(1252-1254)Ctt>Ttt		TCDD-inducible poly(ADP-ribose) polymerase							65	62	63					3																	156421217		2203	4300	6503	SO:0001583	missense	25976						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr3:156421217C>T	BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"Poly (ADP-ribose) polymerases"	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.1252C>T	3.37:g.156421217C>T	ENSP00000420612:p.Leu418Phe					TIPARP_ENST00000542783.1_Missense_Mutation_p.L418F|TIPARP_ENST00000486483.1_Missense_Mutation_p.L418F|TIPARP_ENST00000295924.7_Missense_Mutation_p.L418F	p.L418F	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		5	1840	+			418					D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Missense_Mutation	SNP	ENST00000461166.1	37	c.1252C>T	CCDS3177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.0|22.0	4.236173|4.236173	0.79800|0.79800	.|.	.|.	ENSG00000163659|ENSG00000163659	ENST00000486483;ENST00000295924;ENST00000461166;ENST00000473702;ENST00000481853;ENST00000542783|ENST00000495891	T;T;T;T;T;T|T	0.32272|0.31510	1.46;1.46;1.46;1.46;1.46;1.46|1.49	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	0.066745|.	0.64402|.	D|.	0.000016|.	T|T	0.37625|0.37625	0.1010|0.1010	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	P|.	0.47841|.	0.901|.	P|.	0.47786|.	0.557|.	T|T	0.04242|0.04242	-1.0966|-1.0966	10|7	0.37606|0.20519	T|T	0.19|0.43	.|.	13.0582|13.0582	0.58992|0.58992	0.0:0.9217:0.0:0.0783|0.0:0.9217:0.0:0.0783	rs1137515|rs1137515	418|.	Q7Z3E1|.	PARPT_HUMAN|.	F|I	418|120	ENSP00000418757:L418F;ENSP00000295924:L418F;ENSP00000420612:L418F;ENSP00000419982:L418F;ENSP00000418829:L418F;ENSP00000438345:L418F|ENSP00000420141:T120I	ENSP00000295924:L418F|ENSP00000420141:T120I	L|T	+|+	1|2	0|0	TIPARP|TIPARP	157903911|157903911	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	2.256000|2.256000	0.43231|0.43231	2.503000|2.503000	0.84419|0.84419	0.585000|0.585000	0.79938|0.79938	CTT|ACT		0.383	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	NM_015508		5	42	0	0	0	0.248553	0	5	42					T	156421217	C	T	156421217	3	4	32	1	0	0	0	0	1	0	0	0	15921	565	20	2	1266	2	TIPARP	3	156421217	Missense_Mutation	SNP	C	TCGA-BJ-A3F0-01A-11D-A202-08	108530230	156421217	41601213	4	869											
RAI14	26064	broad.mit.edu	37	chr5	34826488	34826488	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaggaggccttgaacagcctCtcccagctctcctactcaac	7	16	3	1			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr5:34826488C>T	ENST00000265109.3	+	16	2990	c.2703C>T	c.(2701-2703)ctC>ctT	p.L901L	RAI14_ENST00000397449.1_Silent_p.L894L|RAI14_ENST00000503673.1_Silent_p.L901L|RAI14_ENST00000515799.1_Silent_p.L904L|RAI14_ENST00000512629.1_Silent_p.L872L|RAI14_ENST00000506376.1_Silent_p.L893L|RAI14_ENST00000428746.2_Silent_p.L901L	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	901						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					TGAACAGCCTCTCCCAGCTCT	0.498																																						ENST00000265109.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2701-2703)ctC>ctT		retinoic acid induced 14							80	81	81					5																	34826488		2203	4300	6503	SO:0001819	synonymous_variant	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34826488C>T	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"Ankyrin repeat domain containing"	14873	protein-coding gene	gene with protein product	"novel retinal pigment epithelial"	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.2703C>T	5.37:g.34826488C>T						RAI14_ENST00000506376.1_Silent_p.L893L|RAI14_ENST00000397449.1_Silent_p.L894L|RAI14_ENST00000428746.2_Silent_p.L901L|RAI14_ENST00000515799.1_Silent_p.L904L|RAI14_ENST00000503673.1_Silent_p.L901L|RAI14_ENST00000512629.1_Silent_p.L872L	p.L901L	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN			16	2990	+	all_lung(31;0.000191)		901					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Silent	SNP	ENST00000265109.3	37	c.2703C>T	CCDS34142.1																																																																																				0.498	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		28	49	0	0	0	0.706142	0	28	49					T	34826488	C	T	34826488	2	4	32	1	0	0	0	0	0	0	0	1	13008	900	32	2		2	RAI14	5	34826488	Silent	SNP	C	TCGA-BJ-A3F0-01A-11D-A202-08		34826488	146088772	5	870											
DOCK5	80005	broad.mit.edu	37	chr8	25226092	25226092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactttcatttcaggtcccCacaaaatcaaattcatccca	2	14	5	0			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr8:25226092C>T	ENST00000276440.7	+	33	3333	c.3289C>T	c.(3289-3291)Cac>Tac	p.H1097Y		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1097					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TTCAGGTCCCCACAAAATCAA	0.393																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(3289-3291)Cac>Tac		dedicator of cytokinesis 5							60	61	61					8																	25226092		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25226092C>T		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.3289C>T	8.37:g.25226092C>T	ENSP00000276440:p.His1097Tyr						p.H1097Y	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	33	3333	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1097					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.3289C>T	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.90|15.90	2.969615|2.969615	0.53614|0.53614	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000276440|ENST00000444569	T|T	0.30714|0.41400	1.52|1.0	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.047910|.	0.85682|.	D|.	0.000000|.	T|T	0.55353|0.55353	0.1915|0.1915	L|L	0.50333|0.50333	1.59|1.59	0.51482|0.51482	D|D	0.999923|0.999923	B;B;B|.	0.16802|.	0.019;0.008;0.019|.	B;B;B|.	0.19946|.	0.024;0.027;0.024|.	T|T	0.43327|0.43327	-0.9398|-0.9398	10|7	0.38643|0.37606	T|T	0.18|0.19	.|.	20.0567|20.0567	0.97653|0.97653	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1087;872;1097|.	D3DSS6;Q68DL4;Q9H7D0|.	.;.;DOCK5_HUMAN|.	Y|L	1097|868	ENSP00000276440:H1097Y|ENSP00000414125:P868L	ENSP00000276440:H1097Y|ENSP00000414125:P868L	H|P	+|+	1|2	0|0	DOCK5|DOCK5	25282009|25282009	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.832000|0.832000	0.47134|0.47134	4.896000|4.896000	0.63222|0.63222	2.741000|2.741000	0.93983|0.93983	0.655000|0.655000	0.94253|0.94253	CAC|CCA		0.393	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		14	41	0	0	0	0.457914	0	14	41					T	25226092	C	T	25226092	3	4	32	1	0	0	0	0	1	0	0	0	4690	594	21	2	3419	2	DOCK5	8	25226092	Missense_Mutation	SNP	C	TCGA-BJ-A3F0-01A-11D-A202-08		25226092	121137930	6	871											
TG	7038	broad.mit.edu	37	chr8	133945834	133945835	+	Frame_Shift_Ins	INS	-	-	TTCACCG													aggacgaggcctgcagcttcINSttcaccgtgtccacgacgga							TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr8:133945834_133945835insTTCACCG	ENST00000220616.4	+	24	4885_4886	c.4845_4846insTTCACCG	c.(4846-4848)ttcfs	p.-1618fs	TG_ENST00000377869.1_Frame_Shift_Ins_p.-1561fs|TG_ENST00000542445.1_Frame_Shift_Ins_p.-52fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin						hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCTGCAGCTTCTTCACCGTGTC	0.574																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(4843-4848)tttcacfs		thyroglobulin																																				SO:0001589	frameshift_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133945834_133945835insTTCACCG	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4846_4852dupTTCACCG	8.37:g.133945835_133945841dupTTCACCG	ENSP00000220616:p.Val1618fs					TG_ENST00000377869.1_Frame_Shift_Ins_p.H1559fs|TG_ENST00000542445.1_Frame_Shift_Ins_p.H50fs	p.H1616fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	24	4885_4886	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1616					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Frame_Shift_Ins	INS	ENST00000220616.4	37	c.4845_4846insTTCACCG	CCDS34944.1																																																																																				0.574	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		16	105						16	105	---	---	---	---	TTCACCG	133945835	-	TTCACCG	133945834	7	5	32	1	0	1	1	0	0	0	0	0	15810	912	32	0	4939	0	TG	8	133945834	Frame_Shift_Ins	INS	-	TCGA-BJ-A3F0-01A-11D-A202-08	108719742	133945834	12418188	7	872											
CYP2C8	1558	broad.mit.edu	37	chr10	96802700	96802700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggtcactgcatggggcaCaccggtggggacaaggtcac	16	10	2	0	rs147133669	byFrequency	TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr10:96802700C>T	ENST00000371270.3	-	7	1190	c.1096G>A	c.(1096-1098)Gtg>Atg	p.V366M	CYP2C8_ENST00000535898.1_Missense_Mutation_p.V264M|CYP2C8_ENST00000539050.1_Missense_Mutation_p.V280M	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	366					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	GCATGGGGCACACCGGTGGGG	0.488													C|||	3	0.000599042	8e-04	0.0014	5008	,	,		20568	0		0.001	False		,,,				2504	0					ENST00000371270.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21						c.(1096-1098)Gtg>Atg		cytochrome P450, family 2, subfamily C, polypeptide 8	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	C	MET/VAL,MET/VAL,MET/VAL,MET/VAL	4,4402	8.1+/-20.4	0,4,2199	243	204	217		1096,886,790,886	-9.0	0.0	10	dbSNP_134	217	0,8600		0,0,4300	no	missense,missense,missense,missense	CYP2C8	NM_000770.3,NM_001198853.1,NM_001198854.1,NM_001198855.1	21,21,21,21	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	benign,benign,benign,benign	366/491,296/421,264/389,296/421	96802700	4,13002	2203	4300	6503	SO:0001583	missense	1558				exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	g.chr10:96802700C>T	M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"Cytochrome P450s"	2622	protein-coding gene	gene with protein product		601129	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.1096G>A	10.37:g.96802700C>T	ENSP00000360317:p.Val366Met					CYP2C8_ENST00000535898.1_Missense_Mutation_p.V264M|CYP2C8_ENST00000539050.1_Missense_Mutation_p.V280M	p.V366M	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN		all cancers(201;6.21e-05)	7	1190	-		Colorectal(252;0.0397)	366					A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Missense_Mutation	SNP	ENST00000371270.3	37	c.1096G>A	CCDS7438.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	9.561	1.118553	0.20877	9.08E-4	0.0	ENSG00000138115	ENST00000371270;ENST00000535868;ENST00000535898;ENST00000539050	T;T;T	0.70516	-0.49;-0.49;-0.49	4.49	-8.97	0.00758	.	0.552015	0.14889	U	0.292505	T	0.57184	0.2036	L	0.60957	1.885	0.09310	N	1	P;P;B;B	0.39071	0.508;0.658;0.364;0.41	B;B;B;B	0.37943	0.156;0.124;0.261;0.124	T	0.55636	-0.8110	10	0.72032	D	0.01	.	8.5394	0.33384	0.1303:0.5889:0.1179:0.1629	.	280;264;334;366	F5H7Q9;B7Z1F6;B7Z8S1;P10632	.;.;.;CP2C8_HUMAN	M	366;333;264;280	ENSP00000360317:V366M;ENSP00000445062:V264M;ENSP00000442343:V280M	ENSP00000360317:V366M	V	-	1	0	CYP2C8	96792690	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.941000	0.00329	-2.337000	0.00628	-1.105000	0.02106	GTG		0.488	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770		4	113	0	0	0	0.150653	0	4	113					T	96802700	C	T	96802700	3	4	32	1	0	0	0	0	1	0	0	0	4167	478	17	2	388	2	CYP2C8	10	96802700	Missense_Mutation	SNP	C	TCGA-BJ-A3F0-01A-11D-A202-08		96802700	38732047	8	873											
CHRM4	1132	broad.mit.edu	37	chr11	46407206	46407206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttccttggtgttctgggtgGcactgcctgagctggactca	14	10	2	1			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr11:46407206G>A	ENST00000433765.2	-	1	901	c.902C>T	c.(901-903)gCc>gTc	p.A301V		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	301					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GTTCTGGGTGGCACTGCCTGA	0.697																																					Esophageal Squamous(171;1020 1936 4566 30205 42542)	ENST00000433765.2																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20						c.(901-903)gCc>gTc		cholinergic receptor, muscarinic 4	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)						48	59	55					11																	46407206		2127	4224	6351	SO:0001583	missense	1132				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	g.chr11:46407206G>A	M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1953	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 4"	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.902C>T	11.37:g.46407206G>A	ENSP00000409378:p.Ala301Val						p.A301V	NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN		GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	1	901	-			301					B2RPP4|Q0VD60|Q4VBK7	Missense_Mutation	SNP	ENST00000433765.2	37	c.902C>T	CCDS44581.1	.	.	.	.	.	.	.	.	.	.	g	7.438	0.640047	0.14386	.	.	ENSG00000180720	ENST00000433765	T	0.58940	0.3	4.09	2.02	0.26589	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.33265	0.0857	N	0.16266	0.395	0.27656	N	0.947234	B	0.06786	0.001	B	0.10450	0.005	T	0.21586	-1.0241	9	0.12103	T	0.63	.	4.1601	0.10280	0.529:0.0:0.471:0.0	.	301	P08173	ACM4_HUMAN	V	301	ENSP00000409378:A301V	ENSP00000409378:A301V	A	-	2	0	CHRM4	46363782	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	4.279000	0.58953	0.934000	0.37316	0.457000	0.33378	GCC		0.697	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334985.1	NM_000741		3	44	0	0	0	0.150653	0	3	44					A	46407206	G	A	46407206	3	1	32	1	0	0	0	0	1	0	0	0	3379	1203	42	2	541	2	CHRM4	11	46407206	Missense_Mutation	SNP	G	TCGA-BJ-A3F0-01A-11D-A202-08		46407206	88599310	9	874											
CRY1	1407	broad.mit.edu	37	chr12	107415951	107415951	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tagattggcatcaagatcctCaagacactgaagcaaaaatc	7	9	2	4			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr12:107415951C>T	ENST00000008527.5	-	2	1045	c.178G>A	c.(178-180)Gag>Aag	p.E60K		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	60	Photolyase/cryptochrome alpha/beta.				blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						TCAAGATCCTCAAGACACTGA	0.313																																						ENST00000008527.5																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						c.(178-180)Gag>Aag		cryptochrome 1 (photolyase-like)							78	84	82					12																	107415951		2203	4300	6503	SO:0001583	missense	1407				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding	g.chr12:107415951C>T	BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"cryptochrome 1 (photolyase-like)"	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.178G>A	12.37:g.107415951C>T	ENSP00000008527:p.Glu60Lys						p.E60K	NM_004075.3	NP_004066.1	Q16526	CRY1_HUMAN			2	1045	-			60			DNA photolyase.			Missense_Mutation	SNP	ENST00000008527.5	37	c.178G>A	CCDS9112.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953221	0.73902	.	.	ENSG00000008405	ENST00000008527	.	.	.	5.25	5.25	0.73442	Rossmann-like alpha/beta/alpha sandwich fold (1);DNA photolyase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.66577	0.2803	M	0.68593	2.085	0.80722	D	1	B	0.21309	0.054	B	0.23852	0.049	T	0.62567	-0.6827	9	0.21014	T	0.42	-12.9293	18.4266	0.90611	0.0:1.0:0.0:0.0	.	60	Q16526	CRY1_HUMAN	K	60	.	ENSP00000008527:E60K	E	-	1	0	CRY1	105940081	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.552000	0.82192	2.448000	0.82819	0.555000	0.69702	GAG		0.313	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406827.1	NM_004075		5	85	0	0	0	0.248553	0	5	85					T	107415951	C	T	107415951	3	4	32	1	0	0	0	0	1	0	0	0	3903	835	29	2	1626	2	CRY1	12	107415951	Missense_Mutation	SNP	C	TCGA-BJ-A3F0-01A-11D-A202-08		107415951	26435944	10	875											
LGMN	5641	broad.mit.edu	37	chr14	93172867	93172867	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagcagtgggtccggaagtgCagcagggcctctgggtagca	17	9	1	0			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr14:93172867C>A	ENST00000393218.2	-	13	1489	c.1152G>T	c.(1150-1152)ctG>ctT	p.L384L	LGMN_ENST00000555699.1_Intron|LGMN_ENST00000334869.4_Silent_p.L384L|LGMN_ENST00000557434.1_Intron	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	384					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|innate immune response (GO:0045087)|negative regulation of ERBB signaling pathway (GO:1901185)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of neuron apoptotic process (GO:0043524)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|receptor catabolic process (GO:0032801)|renal system process (GO:0003014)|response to acidic pH (GO:0010447)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|toll-like receptor signaling pathway (GO:0002224)|vitamin D metabolic process (GO:0042359)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		TCCGGAAGTGCAGCAGGGCCT	0.627																																						ENST00000393218.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18						c.(1150-1152)ctG>ctT		legumain							51	52	52					14																	93172867		2203	4300	6503	SO:0001819	synonymous_variant	5641				hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity	g.chr14:93172867C>A	D55696	CCDS9904.1	14q32.12	2011-04-08		2002-01-18	ENSG00000100600	ENSG00000100600			9472	protein-coding gene	gene with protein product		602620	"protease, cysteine, 1 (legumain)"	PRSC1		8893817, 9065484	Standard	NM_001008530		Approved	LGMN1	uc001yaw.3	Q99538		ENST00000393218.2:c.1152G>T	14.37:g.93172867C>A						LGMN_ENST00000334869.4_Silent_p.L384L|LGMN_ENST00000555699.1_Intron|LGMN_ENST00000557434.1_Intron	p.L384L	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN		COAD - Colon adenocarcinoma(157;0.224)	13	1489	-		all_cancers(154;0.0706)	384					O00123|Q86TV2|Q86TV3|Q9BTY1	Silent	SNP	ENST00000393218.2	37	c.1152G>T	CCDS9904.1																																																																																				0.627	LGMN-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412288.1	NM_005606		3	55	1	0	2.56e-06	0.150653	2.74286e-06	3	55					A	93172867	C	A	93172867	2	1	32	1	0	0	0	0	0	0	0	1	8755	697	25	4		4	LGMN	14	93172867	Silent	SNP	C	TCGA-BJ-A3F0-01A-11D-A202-08		93172867	14176673	11	876											
C16orf70	80262	broad.mit.edu	37	chr16	67173971	67173971	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgattcctgccaagatgttcTtagcatgcttggctctccac	8	12	2	2			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr16:67173971T>G	ENST00000219139.3	+	9	934	c.746T>G	c.(745-747)cTt>cGt	p.L249R	C16orf70_ENST00000569600.1_Missense_Mutation_p.L249R	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	249										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		CAAGATGTTCTTAGCATGCTT	0.408																																						ENST00000219139.3																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17						c.(745-747)cTt>cGt		chromosome 16 open reading frame 70							126	114	118					16																	67173971		2199	4300	6499	SO:0001583	missense	80262							g.chr16:67173971T>G	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 6"	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.746T>G	16.37:g.67173971T>G	ENSP00000219139:p.Leu249Arg					C16orf70_ENST00000569600.1_Missense_Mutation_p.L249R	p.L249R	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)	9	934	+		Ovarian(137;0.192)	249					Q9HA86	Missense_Mutation	SNP	ENST00000219139.3	37	c.746T>G	CCDS10828.1	.	.	.	.	.	.	.	.	.	.	T	14.19	2.461493	0.43736	.	.	ENSG00000125149	ENST00000219139	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.77205	0.4096	M	0.73217	2.22	0.58432	D	0.999999	D	0.67145	0.996	D	0.66602	0.945	T	0.79145	-0.1924	9	0.62326	D	0.03	-11.8018	15.3964	0.74798	0.0:0.0:0.0:1.0	.	249	Q9BSU1	CP070_HUMAN	R	249	.	ENSP00000219139:L249R	L	+	2	0	C16orf70	65731472	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.117000	0.71577	2.313000	0.78055	0.455000	0.32223	CTT		0.408	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		4	81	0	0	0	0.150653	0	4	81					G	67173971	T	G	67173971	3	3	32	1	0	0	0	0	1	0	0	0	1829	1609	56	5	780	5	C16orf70	16	67173971	Missense_Mutation	SNP	T	TCGA-BJ-A3F0-01A-11D-A202-08		67173971	23180782	12	877											
KIAA0895L	653319	broad.mit.edu	37	chr16	67214355	67214355	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggggctgcagcgctgggggGactgccagagccaggggcaa	20	10	0	1			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr16:67214355G>A	ENST00000290881.7	-	3	1085	c.159C>T	c.(157-159)gtC>gtT	p.V53V	KIAA0895L_ENST00000563902.1_Silent_p.V53V|KIAA0895L_ENST00000561621.1_Silent_p.V53V|KIAA0895L_ENST00000563831.2_Intron			Q68EN5	K895L_HUMAN	KIAA0895-like	53	Pro-rich.									breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						GCGCTGGGGGGACTGCCAGAG	0.657																																						ENST00000290881.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						c.(157-159)gtC>gtT		KIAA0895-like							11	16	14					16																	67214355		2007	4140	6147	SO:0001819	synonymous_variant	653319							g.chr16:67214355G>A	AK092303	CCDS42177.1	16q22.1	2008-11-27				ENSG00000196123			34408	protein-coding gene	gene with protein product							Standard	NM_001040715		Approved	LOC653319	uc002ert.3	Q68EN5		ENST00000290881.7:c.159C>T	16.37:g.67214355G>A						KIAA0895L_ENST00000561621.1_Silent_p.V53V|KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000563902.1_Silent_p.V53V	p.V53V			Q68EN5	K895L_HUMAN			3	1085	-			53			Pro-rich.		A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Silent	SNP	ENST00000290881.7	37	c.159C>T	CCDS42177.1																																																																																				0.657	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421193.4	NM_001040715		8	14	0	0	0	0.307466	0	8	14					A	67214355	G	A	67214355	2	1	32	1	0	0	0	0	0	0	0	1	8198	1161	41	2		2	KIAA0895L	16	67214355	Silent	SNP	G	TCGA-BJ-A3F0-01A-11D-A202-08	40384	67214355	23140398	13	878											
ACAP1	9744	broad.mit.edu	37	chr17	7251632	7251632	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccctcccacaggcaggagAaggaggcctggattcacgct	12	14	1	1			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr17:7251632A>G	ENST00000158762.3	+	17	1722	c.1516A>G	c.(1516-1518)Aag>Gag	p.K506E	ACAP1_ENST00000571471.1_5'Flank|ACAP1_ENST00000570504.1_5'Flank|ACAP1_ENST00000574499.1_5'Flank|ACAP1_ENST00000575415.1_5'Flank	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	506	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.|Required for interaction with GULP1.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						CAGGCAGGAGAAGGAGGCCTG	0.627																																						ENST00000158762.3																			0				NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						c.(1516-1518)Aag>Gag		ArfGAP with coiled-coil, ankyrin repeat and PH domains 1							42	32	36					17																	7251632		2203	4299	6502	SO:0001583	missense	9744				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding	g.chr17:7251632A>G	D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16467	protein-coding gene	gene with protein product		607763	"centaurin, beta 1"	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.1516A>G	17.37:g.7251632A>G	ENSP00000158762:p.Lys506Glu						p.K506E	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN			17	1722	+			506			Arf-GAP.|Required for interaction with GULP1.		Q53XN9	Missense_Mutation	SNP	ENST00000158762.3	37	c.1516A>G	CCDS11101.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.580524	0.86645	.	.	ENSG00000072818	ENST00000158762	T	0.44482	0.92	5.22	5.22	0.72569	.	0.111417	0.64402	D	0.000011	T	0.68063	0.2960	M	0.86573	2.825	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.74359	-0.3691	10	0.87932	D	0	.	13.1034	0.59233	1.0:0.0:0.0:0.0	.	506	Q15027	ACAP1_HUMAN	E	506	ENSP00000158762:K506E	ENSP00000158762:K506E	K	+	1	0	ACAP1	7192356	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	6.929000	0.75852	2.196000	0.70406	0.533000	0.62120	AAG		0.627	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4	NM_014716		7	23	0	0	0	0.27861	0	7	23					G	7251632	A	G	7251632	3	3	32	1	0	0	0	0	1	0	0	0	118	247	9	3	1582	3	ACAP1	17	7251632	Missense_Mutation	SNP	A	TCGA-BJ-A3F0-01A-11D-A202-08		7251632	73943578	14	879											
EIF4A1	1973	broad.mit.edu	37	chr17	7481488	7481488	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctttcttgacgtaggccagAggcattgatgtgcagcaggt	13	8	2	3			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr17:7481488A>G	ENST00000293831.8	+	10	1018	c.1002A>G	c.(1000-1002)agA>agG	p.R334R	EIF4A1_ENST00000582746.1_Intron|EIF4A1_ENST00000577269.1_Intron|EIF4A1_ENST00000581808.1_3'UTR|SNORA67_ENST00000384423.1_RNA|CD68_ENST00000250092.6_5'Flank|SNORD10_ENST00000459579.1_RNA|CD68_ENST00000380498.6_5'Flank|SENP3-EIF4A1_ENST00000579777.1_RNA	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	334	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|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)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						CGTAGGCCAGAGGCATTGATG	0.507																																					Melanoma(120;278 1668 15796 27423 46368)	ENST00000293831.8																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						c.(1000-1002)agA>agG		eukaryotic translation initiation factor 4A1							91	85	87					17																	7481488		2203	4300	6503	SO:0001819	synonymous_variant	1973				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity	g.chr17:7481488A>G	D13748	CCDS11113.1, CCDS58511.1	17p13	2012-02-23	2010-02-10		ENSG00000161960	ENSG00000161960		"DEAD-boxes"	3282	protein-coding gene	gene with protein product		602641	"eukaryotic translation initiation factor 4A, isoform 1"	EIF4A		8493113, 9790779	Standard	NM_001416		Approved	DDX2A, EIF-4A		P60842	OTTHUMG00000108149	ENST00000293831.8:c.1002A>G	17.37:g.7481488A>G						EIF4A1_ENST00000582746.1_Intron|EIF4A1_ENST00000581808.1_3'UTR|EIF4A1_ENST00000577269.1_Intron|SENP3-EIF4A1_ENST00000579777.1_RNA	p.R334R	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN			10	1018	+			334			Helicase C-terminal.		B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	Silent	SNP	ENST00000293831.8	37	c.1002A>G	CCDS11113.1																																																																																				0.507	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226952.6	NM_001416		3	74	0	0	0	0.150653	0	3	74					G	7481488	A	G	7481488	2	3	32	1	0	0	0	0	0	0	0	1	5024	301	11	3		3	EIF4A1	17	7481488	Silent	SNP	A	TCGA-BJ-A3F0-01A-11D-A202-08	229856	7481488	73713722	15	880											
LAMA3	3909	broad.mit.edu	37	chr18	21396413	21396413	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgggccctcgggagtgtgCcagtgccgagagcatgtcgt	17	10	0	1			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr18:21396413C>T	ENST00000313654.9	+	18	2350	c.2109C>T	c.(2107-2109)tgC>tgT	p.C703C	LAMA3_ENST00000399516.3_Silent_p.C703C	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	703	Domain V.|Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CGGGAGTGTGCCAGTGCCGAG	0.547																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(2107-2109)tgC>tgT		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						162	182	175					18																	21396413		2138	4226	6364	SO:0001819	synonymous_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21396413C>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.2109C>T	18.37:g.21396413C>T						LAMA3_ENST00000399516.3_Silent_p.C703C	p.C703C	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			18	2350	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		703			Domain V.|Laminin EGF-like 8.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	c.2109C>T	CCDS42419.1																																																																																				0.547	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		3	43	0	0	0	0.115264	0	3	43					T	21396413	C	T	21396413	2	4	32	1	0	0	0	0	0	0	0	1	8607	747	26	2		2	LAMA3	18	21396413	Silent	SNP	C	TCGA-BJ-A3F0-01A-11D-A202-08		21396413	56680835	16	881											
HAS1	3036	broad.mit.edu	37	chr19	52219536	52219536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cataacccatgctgagcatgCggttggtgaggtgccggtca	14	10	1	2			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr19:52219536C>T	ENST00000222115.1	-	4	1068	c.1034G>A	c.(1033-1035)cGc>cAc	p.R345H	HAS1_ENST00000540069.2_Missense_Mutation_p.R344H|HAS1_ENST00000601714.1_Missense_Mutation_p.R352H|HAS1_ENST00000594621.1_Intron	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	345					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)	p.R345H(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GCTGAGCATGCGGTTGGTGAG	0.522																																					NSCLC(132;636 2450 45807 47979)	ENST00000540069.2																			1	Substitution - Missense(1)	p.R345H(1)	kidney(1)	breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40						c.(1030-1032)cGc>cAc		hyaluronan synthase 1							106	97	100					19																	52219536		2203	4300	6503	SO:0001583	missense	3036				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding	g.chr19:52219536C>T	U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.1034G>A	19.37:g.52219536C>T	ENSP00000222115:p.Arg345His					HAS1_ENST00000222115.1_Missense_Mutation_p.R345H|HAS1_ENST00000601714.1_Missense_Mutation_p.R352H|HAS1_ENST00000594621.1_Intron	p.R344H			Q92839	HAS1_HUMAN		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	4	1091	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	345					Q14470|Q9NS49	Missense_Mutation	SNP	ENST00000222115.1	37	c.1031G>A	CCDS12838.1	.	.	.	.	.	.	.	.	.	.	c	20.5	4.002682	0.74932	.	.	ENSG00000105509	ENST00000540069;ENST00000222115	T;T	0.69040	-0.37;-0.37	3.35	3.35	0.38373	.	0.073864	0.56097	U	0.000031	D	0.82852	0.5127	M	0.90483	3.12	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.70935	0.927;0.971;0.971	D	0.86306	0.1683	10	0.66056	D	0.02	-17.0936	12.592	0.56447	0.0:1.0:0.0:0.0	.	344;345;344	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	H	344;345	ENSP00000445021:R344H;ENSP00000222115:R345H	ENSP00000222115:R345H	R	-	2	0	HAS1	56911348	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	7.614000	0.82996	1.608000	0.50180	0.165000	0.16767	CGC		0.522	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523		7	75	0	0	0	0.27861	0	7	75					T	52219536	C	T	52219536	3	4	32	1	0	0	0	0	1	0	0	0	6961	768	27	1	710	1	HAS1	19	52219536	Missense_Mutation	SNP	C	TCGA-BJ-A3F0-01A-11D-A202-08		52219536	6909447	17	882											
GNAS	2778	broad.mit.edu	37	chr20	57484597	57484597	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgtttgacgtgggtggccaGcgcgatgaacgccgcaagtg	16	9	0	2	rs137854533		TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr20:57484597G>T	ENST00000371085.3	+	9	1105	c.681G>T	c.(679-681)caG>caT	p.Q227H	GNAS_ENST00000265620.7_Missense_Mutation_p.Q212H|GNAS_ENST00000371102.4_Missense_Mutation_p.Q856H|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371095.3_Missense_Mutation_p.Q213H|GNAS_ENST00000306090.10_Missense_Mutation_p.Q213H|GNAS_ENST00000371100.4_Missense_Mutation_p.Q870H|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000354359.7_Missense_Mutation_p.Q228H|GNAS_ENST00000464624.2_3'UTR	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	227			Q -> H (in pituitary adenoma; ACTH- secreting adenoma; in a patient with severe Cushing syndrome complicated by psychosis). {ECO:0000269|PubMed:7737262}.|Q -> R (in somatotrophinoma). {ECO:0000269|PubMed:2549426}.		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)	p.Q227H(7)		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)			TGGGTGGCCAGCGCGATGAAC	0.512			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		7	Substitution - Missense(7)	p.Q227H(7)	thyroid(7)	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.(2608-2610)caG>caT		GNAS complex locus							108	91	97					20																	57484597		2203	4300	6503	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.chr20:57484597G>T	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	ENST00000371085.3:c.681G>T	20.37:g.57484597G>T	ENSP00000360126:p.Gln227His	TSP Lung(22;0.16)				GNAS_ENST00000306090.10_Missense_Mutation_p.Q213H|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.Q856H|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371085.3_Missense_Mutation_p.Q227H|GNAS_ENST00000354359.7_Missense_Mutation_p.Q228H|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000371095.3_Missense_Mutation_p.Q213H|GNAS_ENST00000265620.7_Missense_Mutation_p.Q212H	p.Q870H	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)		9	3162	+	all_lung(29;0.0104)		227					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371085.3	37	c.2610G>T	CCDS13472.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.594386	0.46214	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	D;D;D;D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93;-1.93;-1.93;-1.93	5.59	2.09	0.27110	.	0.000000	0.85682	D	0.000000	D	0.93067	0.7793	H	0.95611	3.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.994;0.992;0.975;0.998	D	0.91742	0.5405	10	0.87932	D	0	.	7.091	0.25283	0.4002:0.0:0.5998:0.0	.	227;228;212;870	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	H	870;856;213;227;228;212;213	ENSP00000360141:Q870H;ENSP00000360143:Q856H;ENSP00000360136:Q213H;ENSP00000360126:Q227H;ENSP00000346328:Q228H;ENSP00000265620:Q212H;ENSP00000304472:Q213H	ENSP00000265620:Q212H	Q	+	3	2	GNAS	56917992	1.000000	0.71417	0.998000	0.56505	0.068000	0.16541	2.207000	0.42788	0.844000	0.35094	-0.145000	0.13849	CAG		0.512	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	NM_000516		13	35	1	0	2.23348e-06	0.500413	2.48165e-06	13	35					T	57484597	G	T	57484597	3	4	32	1	0	0	0	0	1	0	0	0	6510	962	34	4	3532	4	GNAS	20	57484597	Missense_Mutation	SNP	G	TCGA-BJ-A3F0-01A-11D-A202-08		57484597	5540923	18	883											
CSMD2	114784	broad.mit.edu	37	chr1	34180219	34180219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaggcgagctccacaggCgccgtctgccccccaggcac	13	18	1	1			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr1:34180219C>T	ENST00000373381.4	-	21	3550	c.3374G>A	c.(3373-3375)cGc>cAc	p.R1125H		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1085	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCTCCACAGGCGCCGTCTGCC	0.592																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(3373-3375)cGc>cAc		CUB and Sushi multiple domains 2							127	144	139					1																	34180219		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34180219C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.3374G>A	1.37:g.34180219C>T	ENSP00000362479:p.Arg1125His						p.R1125H	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			21	3550	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1085			CUB 7.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.3374G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.424714	0.96111	.	.	ENSG00000121904	ENST00000373381	T	0.64803	-0.12	5.85	5.85	0.93711	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.83271	0.5218	M	0.91354	3.2	0.80722	D	1	D;D	0.89917	1.0;0.974	D;D	0.85130	0.997;0.978	T	0.81597	-0.0860	10	0.23302	T	0.38	.	19.1531	0.93496	0.0:1.0:0.0:0.0	.	1085;1125	Q7Z408;E7EUA6	CSMD2_HUMAN;.	H	1125	ENSP00000362479:R1125H	ENSP00000241312:R1085H	R	-	2	0	CSMD2	33952806	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.818000	0.86416	2.753000	0.94483	0.655000	0.94253	CGC		0.592	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		20	341	0	0	0	1	0	20	341					T	34180219	C	T	34180219	3	4	33	1	0	0	0	0	1	0	0	0	3945	768	27	1	7405	1	CSMD2	1	34180219	Missense_Mutation	SNP	C	TCGA-BJ-A3PR-01A-11D-A21Z-08		34180219	215070402	1	884											
COL24A1	255631	broad.mit.edu	37	chr1	86250007	86250007	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgctcctcggtgacctcTtttaccttgaattccaggtt	8	11	1	2			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr1:86250007T>C	ENST00000370571.2	-	49	4468	c.4102A>G	c.(4102-4104)Aga>Gga	p.R1368G	COL24A1_ENST00000436319.1_Missense_Mutation_p.R1368G	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1368	Collagen-like 16.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CGGTGACCTCTTTTACCTTGA	0.453																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(4102-4104)Aga>Gga		collagen, type XXIV, alpha 1							114	110	111					1																	86250007		1930	4133	6063	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86250007T>C	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.4102A>G	1.37:g.86250007T>C	ENSP00000359603:p.Arg1368Gly					COL24A1_ENST00000436319.1_Missense_Mutation_p.R1368G	p.R1368G	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	49	4468	-			1368			Collagen-like 16.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.4102A>G	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	T	14.71	2.617128	0.46736	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.94184	-3.2;-3.37	5.36	4.16	0.48862	.	0.000000	0.36374	N	0.002634	D	0.96405	0.8827	M	0.91249	3.19	0.48395	D	0.999641	D;D	0.71674	0.998;0.998	D;D	0.70487	0.954;0.969	D	0.96328	0.9241	10	0.52906	T	0.07	.	11.9821	0.53125	0.0:0.0:0.1447:0.8553	.	1368;1368	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	G	1368	ENSP00000359603:R1368G;ENSP00000392531:R1368G	ENSP00000359603:R1368G	R	-	1	2	COL24A1	86022595	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	3.256000	0.51492	2.034000	0.60081	0.482000	0.46254	AGA		0.453	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		3	117	0	0	0	1	0	3	117					C	86250007	T	C	86250007	3	2	33	1	0	0	0	0	1	0	0	0	3683	1617	56	3	1090	3	COL24A1	1	86250007	Missense_Mutation	SNP	T	TCGA-BJ-A3PR-01A-11D-A21Z-08	52069788	86250007	163000614	2	885											
RPTN	126638	broad.mit.edu	37	chr1	152128205	152128208	+	Frame_Shift_Del	DEL	TGTC	TGTC	-													catagtgggaactctggcctTgtctgtctgtctgaccatag							TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr1:152128205_152128208delTGTC	ENST00000316073.3	-	3	1431_1434	c.1367_1370delGACA	c.(1366-1371)agacaafs	p.RQ456fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	456	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.52																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1366-1371)aafs		repetin																																				SO:0001589	frameshift_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128205_152128208delTGTC	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1367_1370delGACA	1.37:g.152128213_152128216delTGTC	ENSP00000317895:p.Arg456fs						p.RQ456fs	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1431_1434	-			456			Gln-rich.		B7ZBZ3	Frame_Shift_Del	DEL	ENST00000316073.3	37	c.1367_1370delGACA	CCDS41397.1																																																																																				0.52	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		9	1513						9	1513	---	---	---	---	-	152128208	TGTC	-	152128205	7	5	33	1	0	1	0	1	0	0	0	0	13664	1812	63	0	988	0	RPTN	1	152128205	Frame_Shift_Del	DEL	TGTC	TCGA-BJ-A3PR-01A-11D-A21Z-08	65878198	152128205	97122416	3	886											
TTC30B	150737	broad.mit.edu	37	chr2	178416303	178416303	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgtgtcttgcttcctgtaCttgtatggtaagtttccgga	10	7	1	0			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr2:178416303C>T	ENST00000408939.3	-	1	1439	c.1189G>A	c.(1189-1191)Gta>Ata	p.V397I		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	397					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			GCTTCCTGTACTTGTATGGTA	0.448																																						ENST00000408939.2																			0				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23						c.(1189-1191)Gta>Ata		tetratricopeptide repeat domain 30B							235	240	238					2																	178416303		2203	4300	6503	SO:0001583	missense	150737				cell projection organization	cilium	binding	g.chr2:178416303C>T	AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.1189G>A	2.37:g.178416303C>T	ENSP00000386181:p.Val397Ile						p.V397I	NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)		1	1439	-			397					Q63HQ1|Q96NE6	Missense_Mutation	SNP	ENST00000408939.3	37	c.1189G>A	CCDS42784.1	.	.	.	.	.	.	.	.	.	.	C	1.268	-0.614009	0.03690	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	T	0.16073	2.37	4.77	4.77	0.60923	.	0.052693	0.85682	D	0.000000	T	0.09730	0.0239	N	0.16656	0.425	0.58432	D	0.999998	B	0.10296	0.003	B	0.13407	0.009	T	0.07309	-1.0779	10	0.06099	T	0.92	.	13.7493	0.62897	0.0:0.9229:0.0:0.0771	.	397	Q8N4P2	TT30B_HUMAN	I	350;397	ENSP00000386181:V397I	ENSP00000386181:V397I	V	-	1	0	TTC30B	178124549	1.000000	0.71417	0.998000	0.56505	0.683000	0.39861	4.994000	0.63901	2.628000	0.89032	0.655000	0.94253	GTA		0.448	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2	NM_152517		6	330	0	0	0	1	0	6	330					T	178416303	C	T	178416303	3	4	33	1	0	0	0	0	1	0	0	0	16696	565	20	2	812	2	TTC30B	2	178416303	Missense_Mutation	SNP	C	TCGA-BJ-A3PR-01A-11D-A21Z-08		178416303	64783070	4	887											
FSIP2	401024	broad.mit.edu	37	chr2	186671209	186671209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagattagcagggattcgGcacagtctgttacaacaaaa	10	7	1	1			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr2:186671209G>A	ENST00000424728.1	+	17	17176	c.17176G>A	c.(17176-17178)Gca>Aca	p.A5726T	FSIP2_ENST00000343098.5_Missense_Mutation_p.A5815T			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5726										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CAGGGATTCGGCACAGTCTGT	0.368																																						ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(17443-17445)Gca>Aca		fibrous sheath interacting protein 2							73	68	70					2																	186671209		1814	4070	5884	SO:0001583	missense	401024							g.chr2:186671209G>A	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.17176G>A	2.37:g.186671209G>A	ENSP00000401306:p.Ala5726Thr					FSIP2_ENST00000424728.1_Missense_Mutation_p.A5726T	p.A5815T	NM_173651.2	NP_775922.2					17	17443	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37	c.17443G>A		.	.	.	.	.	.	.	.	.	.	G	16.25	3.069320	0.55539	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.54479	0.57;0.58	4.88	-4.8	0.03190	.	.	.	.	.	T	0.27313	0.0670	N	0.19112	0.55	0.09310	N	1	.	.	.	.	.	.	T	0.21793	-1.0235	7	0.18276	T	0.48	.	2.705	0.05159	0.5025:0.1245:0.2463:0.1267	.	.	.	.	T	5815;5726	ENSP00000344403:A5815T;ENSP00000401306:A5726T	ENSP00000344403:A5815T	A	+	1	0	FSIP2	186379454	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.258000	0.02863	-1.221000	0.02591	-1.054000	0.02325	GCA		0.368	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		4	173	0	0	0	1	0	4	173					A	186671209	G	A	186671209	3	1	33	1	0	0	0	0	1	0	0	0	6075	1203	42	2	17509	2	FSIP2	2	186671209	Missense_Mutation	SNP	G	TCGA-BJ-A3PR-01A-11D-A21Z-08	8254906	186671209	56528164	5	888											
KIAA2018	205717	broad.mit.edu	37	chr3	113380090	113380090	+	Frame_Shift_Del	DEL	T	T	-													cccgttggaataaacaataaTttttttttgaacctggtcac							TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr3:113380090delT	ENST00000478658.1	-	5	456	c.439delA	c.(439-441)attfs	p.I148fs	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Frame_Shift_Del_p.I148fs			Q68DE3	K2018_HUMAN	KIAA2018	148						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TAAACAATAATTTTTTTTTGA	0.373																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(439-441)ttfs		KIAA2018							90	87	88					3																	113380090		1813	4072	5885	SO:0001589	frameshift_variant	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113380090delT	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.439delA	3.37:g.113380090delT	ENSP00000420721:p.Ile148fs					KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Frame_Shift_Del_p.I148fs	p.I148fs	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	849	-			148					Q7Z3L9|Q8IVF3|Q9H8T4	Frame_Shift_Del	DEL	ENST00000478658.1	37	c.439delA	CCDS43133.1																																																																																				0.373	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		7	170						7	170	---	---	---	---	-	113380090	T	-	113380090	7	5	33	1	0	1	0	1	0	0	0	0	8268	1493	52	0	6302	0	KIAA2018	3	113380090	Frame_Shift_Del	DEL	T	TCGA-BJ-A3PR-01A-11D-A21Z-08		113380090	84642340	6	889											
STXBP5L	9515	broad.mit.edu	37	chr3	120628502	120628502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggtagcagcagtggcaGtaacagtggtggtggggctg	19	6	0	0			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr3:120628502G>A	ENST00000273666.6	+	2	348	c.77G>A	c.(76-78)aGt>aAt	p.S26N	STXBP5L_ENST00000492541.1_Missense_Mutation_p.S26N|STXBP5L_ENST00000471454.1_Missense_Mutation_p.S26N|STXBP5L_ENST00000497029.1_Missense_Mutation_p.S26N|STXBP5L_ENST00000472879.1_Missense_Mutation_p.S26N	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	26					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGCAGTGGCAGTAACAGTGGT	0.478																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(76-78)aGt>aAt		syntaxin binding protein 5-like							46	54	52					3																	120628502		1912	4139	6051	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120628502G>A	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"WD repeat domain containing"	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.77G>A	3.37:g.120628502G>A	ENSP00000273666:p.Ser26Asn					STXBP5L_ENST00000471454.1_Missense_Mutation_p.S26N|STXBP5L_ENST00000497029.1_Missense_Mutation_p.S26N|STXBP5L_ENST00000472879.1_Missense_Mutation_p.S26N|STXBP5L_ENST00000492541.1_Missense_Mutation_p.S26N	p.S26N	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	2	348	+			26					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.77G>A	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.415669	0.42817	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000495504;ENST00000471262	T;T;T;T;T;T;T	0.52526	1.72;1.73;1.52;1.03;1.5;0.66;1.74	5.04	2.1	0.27182	.	0.357947	0.24403	N	0.038821	T	0.24736	0.0600	N	0.08118	0	0.23107	N	0.998286	B;B	0.17667	0.023;0.023	B;B	0.18263	0.021;0.021	T	0.16512	-1.0400	10	0.28530	T	0.3	-28.0666	9.3173	0.37941	0.0:0.299:0.5462:0.1548	.	26;26	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	N	26	ENSP00000273666:S26N;ENSP00000420019:S26N;ENSP00000419627:S26N;ENSP00000420287:S26N;ENSP00000420666:S26N;ENSP00000419404:S26N;ENSP00000420167:S26N	ENSP00000273666:S26N	S	+	2	0	STXBP5L	122111192	1.000000	0.71417	0.990000	0.47175	0.999000	0.98932	2.009000	0.40903	0.250000	0.21479	0.650000	0.86243	AGT		0.478	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			3	66	0	0	0	1	0	3	66					A	120628502	G	A	120628502	3	1	33	1	0	0	0	0	1	0	0	0	15356	1029	36	2	79	2	STXBP5L	3	120628502	Missense_Mutation	SNP	G	TCGA-BJ-A3PR-01A-11D-A21Z-08	7248412	120628502	77393928	7	890											
TF	7018	broad.mit.edu	37	chr3	133473446	133473446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacgggtctaggcaggtccGctgggtggaacatccccata	13	12	1	0			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr3:133473446G>A	ENST00000402696.3	+	4	918	c.433G>A	c.(433-435)Gct>Act	p.A145T	TFP1_ENST00000460564.1_RNA|TF_ENST00000475382.1_3'UTR|TF_ENST00000264998.3_Missense_Mutation_p.A18T	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	145	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	AGGCAGGTCCGCTGGGTGGAA	0.527																																						ENST00000402696.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(433-435)Gct>Act		transferrin	Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)						181	177	178					3																	133473446		2203	4300	6503	SO:0001583	missense	7018				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	g.chr3:133473446G>A		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.433G>A	3.37:g.133473446G>A	ENSP00000385834:p.Ala145Thr					TF_ENST00000264998.3_Missense_Mutation_p.A18T|TF_ENST00000475382.1_3'UTR	p.A145T	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN			4	918	+			145			Transferrin-like 1.		O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	ENST00000402696.3	37	c.433G>A	CCDS3080.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561710	0.65538	.	.	ENSG00000091513	ENST00000402696;ENST00000482271;ENST00000264998	T;T;T	0.40225	1.14;1.04;1.14	5.25	3.44	0.39384	.	0.092655	0.85682	D	0.000000	T	0.67135	0.2861	H	0.96970	3.915	0.51767	D	0.999938	D	0.56287	0.975	P	0.54590	0.756	T	0.74093	-0.3776	10	0.72032	D	0.01	-22.3783	9.3828	0.38325	0.0762:0.0:0.7801:0.1437	.	145	P02787	TRFE_HUMAN	T	145;18;18	ENSP00000385834:A145T;ENSP00000419338:A18T;ENSP00000264998:A18T	ENSP00000264998:A18T	A	+	1	0	TF	134956136	1.000000	0.71417	0.099000	0.21106	0.398000	0.30690	5.236000	0.65354	0.777000	0.33496	-0.254000	0.11334	GCT		0.527	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		5	371	0	0	0	1	0	5	371					A	133473446	G	A	133473446	3	1	33	1	0	0	0	0	1	0	0	0	15782	1087	38	1	447	1	TF	3	133473446	Missense_Mutation	SNP	G	TCGA-BJ-A3PR-01A-11D-A21Z-08	12844944	133473446	64548984	8	891											
ENPEP	2028	broad.mit.edu	37	chr4	111398002	111398002	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagaccaggatcacccggctCccggagctgaagaggccctc	13	15	1	3			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr4:111398002C>T	ENST00000265162.5	+	1	774	c.432C>T	c.(430-432)ctC>ctT	p.L144L		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	144					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		TCACCCGGCTCCCGGAGCTGA	0.622																																						ENST00000265162.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(430-432)ctC>ctT		glutamyl aminopeptidase (aminopeptidase A)	L-Glutamic Acid(DB00142)						68	79	75					4																	111398002		2203	4300	6503	SO:0001819	synonymous_variant	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111398002C>T	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"CD molecules"	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.432C>T	4.37:g.111398002C>T							p.L144L	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	1	774	+		Hepatocellular(203;0.217)	144					Q504U2	Silent	SNP	ENST00000265162.5	37	c.432C>T	CCDS3691.1																																																																																				0.622	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			19	202	0	0	0	1	0	19	202					T	111398002	C	T	111398002	2	4	33	1	0	0	0	0	0	0	0	1	5128	842	30	2		2	ENPEP	4	111398002	Silent	SNP	C	TCGA-BJ-A3PR-01A-11D-A21Z-08		111398002	79756274	9	892											
FNIP2	57600	broad.mit.edu	37	chr4	159750278	159750278	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagccaagtgctgccagggAagcagcagtgtcagcagcag	14	11	2	0			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr4:159750278A>G	ENST00000264433.6	+	3	357	c.282A>G	c.(280-282)ggA>ggG	p.G94G	FNIP2_ENST00000505445.1_3'UTR|FNIP2_ENST00000379346.3_Silent_p.G117G	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	94					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GCTGCCAGGGAagcagcagtg	0.458																																						ENST00000264433.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(280-282)ggA>ggG		folliculin interacting protein 2							45	46	46					4																	159750278		2041	4207	6248	SO:0001819	synonymous_variant	57600				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	g.chr4:159750278A>G	AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"O6-methylguanine-induced apoptosis 1"	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.282A>G	4.37:g.159750278A>G						FNIP2_ENST00000505445.1_3'UTR|FNIP2_ENST00000379346.3_Silent_p.G117G	p.G94G	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN		COAD - Colon adenocarcinoma(41;0.00936)	3	357	+	all_hematologic(180;0.24)		94					Q05DC3|Q96I31|Q9H994	Silent	SNP	ENST00000264433.6	37	c.282A>G	CCDS47155.1																																																																																				0.458	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840		3	25	0	0	0	1	0	3	25					G	159750278	A	G	159750278	2	3	33	1	0	0	0	0	0	0	0	1	5976	233	9	3		3	FNIP2	4	159750278	Silent	SNP	A	TCGA-BJ-A3PR-01A-11D-A21Z-08	48352276	159750278	31403998	10	893											
CXXC5	51523	broad.mit.edu	37	chr5	139060332	139060332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcaacaagagcctgcgccGctcccgcccgctctcccact	7	22	2	1			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr5:139060332G>A	ENST00000302517.3	+	2	938	c.224G>A	c.(223-225)cGc>cAc	p.R75H	CXXC5_ENST00000511048.1_Missense_Mutation_p.R75H	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	75					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)			AGCCTGCGCCGCTCCCGCCCG	0.642																																						ENST00000302517.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12						c.(223-225)cGc>cAc		CXXC finger protein 5							57	75	69					5																	139060332		2105	4207	6312	SO:0001583	missense	51523				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr5:139060332G>A	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.224G>A	5.37:g.139060332G>A	ENSP00000302543:p.Arg75His					CXXC5_ENST00000511048.1_Missense_Mutation_p.R75H	p.R75H	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	938	+			75					B3KND0|C8CBA8|Q8TB79|Q9NV51|Q9P0S8	Missense_Mutation	SNP	ENST00000302517.3	37	c.224G>A	CCDS43370.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.351655	0.61183	.	.	ENSG00000171604	ENST00000504944;ENST00000302517;ENST00000504844;ENST00000502336;ENST00000520967;ENST00000511048;ENST00000509238;ENST00000502716;ENST00000503511;ENST00000511457	.	.	.	5.41	4.42	0.53409	.	0.210247	0.39341	N	0.001399	T	0.29588	0.0738	N	0.19112	0.55	0.39473	D	0.96776	D	0.60160	0.987	P	0.45232	0.474	T	0.06110	-1.0845	8	.	.	.	-18.3037	4.0536	0.09806	0.2611:0.0:0.7389:0.0	.	75	Q7LFL8	CXXC5_HUMAN	H	75	.	.	R	+	2	0	CXXC5	139040516	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.438000	0.66550	2.531000	0.85337	0.561000	0.74099	CGC		0.642	CXXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372744.1	NM_016463		4	129	0	0	0	1	0	4	129					A	139060332	G	A	139060332	3	1	33	1	0	0	0	0	1	0	0	0	4099	1087	38	1	226	1	CXXC5	5	139060332	Missense_Mutation	SNP	G	TCGA-BJ-A3PR-01A-11D-A21Z-08		139060332	41854928	11	894											
HLA-DRA	3122	broad.mit.edu	37	chr6	32411670	32411670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaaagcaatgcagcagaaCgcagggggcctctgtaaggc	14	10	1	1	rs530789959		TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr6:32411670C>T	ENST00000374982.5	+	4	746	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C	HLA-DRA_ENST00000395388.2_Missense_Mutation_p.R250C			P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	250					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002504)|cognition (GO:0050890)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|polysaccharide assembly with MHC class II protein complex (GO:0002506)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						TGCAGCAGAACGCAGGGGGCC	0.532									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				C|||	1	0.000199681	8e-04	0	5008	,	,		20038	0		0	False		,,,				2504	0					ENST00000395388.2																			0				NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						c.(748-750)Cgc>Tgc		major histocompatibility complex, class II, DR alpha							124	111	116					6																	32411670		1511	2709	4220	SO:0001583	missense	3122	T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32411670C>T		CCDS4750.1	6p21.3	2013-01-11			ENSG00000204287	ENSG00000204287		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4947	protein-coding gene	gene with protein product		142860		HLA-DRA1			Standard	NM_019111		Approved		uc003obh.3	P01903	OTTHUMG00000031269	ENST00000374982.5:c.673C>T	6.37:g.32411670C>T	ENSP00000364121:p.Arg225Cys					HLA-DRA_ENST00000374982.5_Missense_Mutation_p.R225C	p.R250C	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN			4	857	+			250					A2BET4|Q30160|Q6IAZ1|Q861I2|Q9TP70	Missense_Mutation	SNP	ENST00000374982.5	37	c.748C>T		.	.	.	.	.	.	.	.	.	.	.	16.42	3.117810	0.56505	.	.	ENSG00000204287	ENST00000395388;ENST00000374982	T;T	0.01871	4.59;4.83	5.06	3.29	0.37713	.	0.471757	0.23091	N	0.052037	T	0.02610	0.0079	M	0.76574	2.34	0.09310	N	1	D;D	0.71674	0.998;0.99	P;P	0.53360	0.724;0.634	T	0.36480	-0.9746	10	0.56958	D	0.05	.	7.8486	0.29440	0.0:0.813:0.0:0.187	.	225;250	Q30118;P01903	.;DRA_HUMAN	C	250;225	ENSP00000378786:R250C;ENSP00000364121:R225C	ENSP00000364121:R225C	R	+	1	0	HLA-DRA	32519648	0.000000	0.05858	0.007000	0.13788	0.244000	0.25665	0.522000	0.22909	0.846000	0.35142	0.573000	0.79308	CGC		0.532	HLA-DRA-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000076587.3	NM_019111		8	115	0	0	0	1	0	8	115					T	32411670	C	T	32411670	3	4	33	1	0	0	0	0	1	0	0	0	7207	536	19	1	762	1	HLA-DRA	6	32411670	Missense_Mutation	SNP	C	TCGA-BJ-A3PR-01A-11D-A21Z-08		32411670	138703397	12	895											
ELOVL5	60481	broad.mit.edu	37	chr6	53139895	53139895	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctaatacttacagtggccGcaggggacccagttcatcac	9	13	3	0			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr6:53139895G>A	ENST00000542638.1	-	5	936	c.489C>T	c.(487-489)tgC>tgT	p.C163C	ELOVL5_ENST00000486973.1_5'Flank|ELOVL5_ENST00000370918.4_Silent_p.C153C|MIR5685_ENST00000579080.1_RNA|ELOVL5_ENST00000304434.6_Silent_p.C163C|ELOVL5_ENST00000541407.1_Silent_p.C190C			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	163					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					TACAGTGGCCGCAGGGGACCC	0.517																																						ENST00000542638.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(487-489)tgC>tgT		ELOVL fatty acid elongase 5							77	64	69					6																	53139895		2203	4300	6503	SO:0001819	synonymous_variant	60481				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr6:53139895G>A	AF052129	CCDS4951.1, CCDS56433.1, CCDS56434.1, CCDS75470.1	6p21.1-p12.1	2014-07-30	2011-05-25		ENSG00000012660	ENSG00000012660			21308	protein-coding gene	gene with protein product		611805	"ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)", "spinocerebellar ataxia 38"	SCA38		10970790, 25065913	Standard	NM_021814		Approved	HELO1, dJ483K16.1	uc011dwx.2	Q9NYP7	OTTHUMG00000016249	ENST00000542638.1:c.489C>T	6.37:g.53139895G>A						ELOVL5_ENST00000541407.1_Silent_p.C190C|ELOVL5_ENST00000304434.6_Silent_p.C163C|ELOVL5_ENST00000370918.4_Silent_p.C153C	p.C163C			Q9NYP7	ELOV5_HUMAN			5	936	-	Lung NSC(77;0.116)		163					B4DZJ2|F6SH78|Q59EL3|Q5TGH5|Q6NXE7|Q7L2S5|Q8NCG4|Q9UI22	Silent	SNP	ENST00000542638.1	37	c.489C>T	CCDS4951.1																																																																																				0.517	ELOVL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043566.1	NM_021814		3	55	0	0	0	1	0	3	55					A	53139895	G	A	53139895	2	1	33	1	0	0	0	0	0	0	0	1	5077	1079	38	1		1	ELOVL5	6	53139895	Silent	SNP	G	TCGA-BJ-A3PR-01A-11D-A21Z-08	20728225	53139895	117975172	13	896											
C6orf142	90523	broad.mit.edu	37	chr6	53989504	53989504	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagttgaacaaggccccccAggggggattggcaccgcagc	14	12	0	1			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr6:53989504A>G	ENST00000274897.5	+	3	566	c.453A>G	c.(451-453)ccA>ccG	p.P151P	MLIP_ENST00000370876.2_Silent_p.P89P|MLIP_ENST00000370877.2_Silent_p.P99P|MLIP_ENST00000358276.5_Silent_p.P145P|MLIP_ENST00000509997.1_Silent_p.P99P|MLIP_ENST00000502396.1_Silent_p.P162P|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000514921.1_Silent_p.P151P	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	151						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						AAGGCCCCCCAGGGGGGATTG	0.537																																						ENST00000514921.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						c.(451-453)ccA>ccG		muscular LMNA-interacting protein							77	79	78					6																	53989504		2203	4300	6503	SO:0001819	synonymous_variant	90523					nuclear envelope|PML body	protein binding	g.chr6:53989504A>G	AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"muscle-enriched A-type lamin interacting protein"	614106	"chromosome 6 open reading frame 142"	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.453A>G	6.37:g.53989504A>G						MLIP_ENST00000370877.2_Silent_p.P99P|MLIP_ENST00000502396.1_Silent_p.P162P|MLIP_ENST00000370876.2_Silent_p.P89P|MLIP_ENST00000509997.1_Silent_p.P99P|MLIP_ENST00000358276.5_Silent_p.P145P|MLIP_ENST00000274897.5_Silent_p.P151P|MLIP_ENST00000511744.1_3'UTR	p.P151P			Q5VWP3	MLIP_HUMAN			3	566	+			151					B7Z2N0|D6RE05|Q96H08|Q96NF7	Silent	SNP	ENST00000274897.5	37	c.453A>G	CCDS4954.1																																																																																				0.537	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569		6	155	0	0	0	1	0	6	155					G	53989504	A	G	53989504	2	3	33	1	0	0	0	0	0	0	0	1	2333	175	7	3		3	C6orf142	6	53989504	Silent	SNP	A	TCGA-BJ-A3PR-01A-11D-A21Z-08	849609	53989504	117125563	14	897											
HOXA13	3209	broad.mit.edu	37	chr7	27237982	27237982	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tattcccgttcaagttctttTaattgcaccttggtataagg	7	8	2	0	rs35608915	byFrequency	TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr7:27237982T>C	ENST00000222753.4	-	2	1030	c.1002A>G	c.(1000-1002)ttA>ttG	p.L334L	HOTTIP_ENST00000521028.2_RNA|HOXA13_ENST00000518136.3_5'Flank|HOTTIP_ENST00000605136.1_RNA|HOTTIP_ENST00000421733.1_RNA|HOTTIP_ENST00000472494.1_RNA	NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN	homeobox A13	334					artery morphogenesis (GO:0048844)|branching involved in prostate gland morphogenesis (GO:0060442)|embryonic forelimb morphogenesis (GO:0035115)|endothelial cell fate specification (GO:0060847)|endothelial cell morphogenesis (GO:0001886)|inner ear development (GO:0048839)|male genitalia development (GO:0030539)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of BMP signaling pathway (GO:0030510)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|ventricular septum development (GO:0003281)	intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						CAAGTTCTTTTAATTGCACCT	0.507			T	NUP98	AML						OREG0003748	type=REGULATORY REGION|Gene=HOXA13|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T|||	5	0.000998403	0	0.0014	5008	,	,		18519	0		0.003	False		,,,				2504	0.001					ENST00000222753.4				Dom	yes		7	7p15-p14.2	3209	T	homeo box A13			L	NUP98		AML		0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						c.(1000-1002)ttA>ttG		homeobox A13		T		3,4403	6.2+/-15.9	0,3,2200	181	179	180		1002	0.4	1.0	7	dbSNP_126	180	34,8566	24.0+/-70.4	0,34,4266	no	coding-synonymous	HOXA13	NM_000522.4		0,37,6466	CC,CT,TT		0.3953,0.0681,0.2845		334/389	27237982	37,12969	2203	4300	6503	SO:0001819	synonymous_variant	3209				skeletal system development	nucleus	sequence-specific DNA binding	g.chr7:27237982T>C		CCDS5412.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106031	ENSG00000106031		"Homeoboxes / ANTP class : HOXL subclass"	5102	protein-coding gene	gene with protein product		142959	"homeo box A13"	HOX1J, HOX1		1973146, 1358459	Standard	NM_000522		Approved		uc003szb.1	P31271	OTTHUMG00000023438	ENST00000222753.4:c.1002A>G	7.37:g.27237982T>C			OREG0003748	type=REGULATORY REGION|Gene=HOXA13|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	792		p.L334L	NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN			2	1030	-			334					A4D188|O43371	Silent	SNP	ENST00000222753.4	37	c.1002A>G	CCDS5412.1																																																																																				0.507	HOXA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358752.3			5	214	0	0	0	1	0	5	214					C	27237982	T	C	27237982	2	2	33	1	0	0	0	0	0	0	0	1	7291	1751	61	3		3	HOXA13	7	27237982	Silent	SNP	T	TCGA-BJ-A3PR-01A-11D-A21Z-08		27237982	131900681	15	898											
FOXP2	93986	broad.mit.edu	37	chr7	114271580	114271582	+	Splice_Site	DEL	CAG	CAG	-													tggtttgggttttctgatacCagcagcagcagcagcagcag							TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr7:114271580_114271582delCAG	ENST00000393494.2	+	6	876		c.e6-1		FOXP2_ENST00000378237.3_Splice_Site|FOXP2_ENST00000393500.3_Splice_Site|FOXP2_ENST00000390668.3_Splice_Site|FOXP2_ENST00000393489.3_Splice_Site|FOXP2_ENST00000360232.4_Splice_Site|FOXP2_ENST00000408937.3_Splice_Site|FOXP2_ENST00000393491.3_Splice_Site|FOXP2_ENST00000403559.4_Splice_Site|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000350908.4_Splice_Site|FOXP2_ENST00000393498.2_Intron			O15409	FOXP2_HUMAN	forkhead box P2						camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(3)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TTTCTGATACcagcagcagcagc	0.512																																						ENST00000393500.3																			3	Unknown(3)	p.?(3)	endometrium(3)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.e12-1		forkhead box P2																																				SO:0001630	splice_region_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	g.chr7:114271580_114271582delCAG	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.598-1CAG>-	7.37:g.114271589_114271591delCAG						FOXP2_ENST00000390668.3_Splice_Site|FOXP2_ENST00000360232.4_Splice_Site|FOXP2_ENST00000408937.3_Splice_Site|FOXP2_ENST00000393489.3_Splice_Site|FOXP2_ENST00000403559.4_Splice_Site|FOXP2_ENST00000378237.3_Splice_Site|FOXP2_ENST00000393494.2_Splice_Site|FOXP2_ENST00000393498.2_Intron|FOXP2_ENST00000393491.3_Splice_Site|FOXP2_ENST00000350908.4_Splice_Site				O15409	FOXP2_HUMAN			12	1192	+								A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Splice_Site	DEL	ENST00000393494.2	37		CCDS5760.1																																																																																				0.512	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491	Intron	2	4						2	4	---	---	---	---	-	114271582	CAG	-	114271580	8	5	33	1	0	1	0	1	0	0	1	0	6027	609	21	0		0	FOXP2	7	114271580	Splice_Site	DEL	CAG	TCGA-BJ-A3PR-01A-11D-A21Z-08	87033598	114271580	44867083	16	899											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		6	102	0	0	0	1	0	6	102					T	140453136	A	T	140453136	3	4	33	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A3PR-01A-11D-A21Z-08	26181556	140453136	18685527	17	900											
ANK1	286	broad.mit.edu	37	chr8	41554019	41554019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgggcgctgcgcacgtcCgtggcgggatcaccactcgc	17	14	1	0			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr8:41554019C>T	ENST00000347528.4	-	26	2905	c.2822G>A	c.(2821-2823)cGg>cAg	p.R941Q	ANK1_ENST00000379758.2_Missense_Mutation_p.R941Q|ANK1_ENST00000265709.8_Missense_Mutation_p.R982Q|ANK1_ENST00000396942.1_Missense_Mutation_p.R941Q|ANK1_ENST00000352337.4_Missense_Mutation_p.R941Q|ANK1_ENST00000289734.7_Missense_Mutation_p.R941Q|ANK1_ENST00000396945.1_Missense_Mutation_p.R941Q	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	941	ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				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)			TGCGCACGTCCGTGGCGGGAT	0.682																																						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.(2821-2823)cGg>cAg		ankyrin 1, erythrocytic							44	43	43					8																	41554019		2203	4299	6502	SO:0001583	missense	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.chr8:41554019C>T	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.2822G>A	8.37:g.41554019C>T	ENSP00000339620:p.Arg941Gln					ANK1_ENST00000396945.1_Missense_Mutation_p.R941Q|ANK1_ENST00000347528.4_Missense_Mutation_p.R941Q|ANK1_ENST00000352337.4_Missense_Mutation_p.R941Q|ANK1_ENST00000265709.8_Missense_Mutation_p.R982Q|ANK1_ENST00000379758.2_Missense_Mutation_p.R941Q|ANK1_ENST00000289734.7_Missense_Mutation_p.R941Q	p.R941Q			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)		26	2905	-	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)	941			ZU5.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.2822G>A	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	36	5.704567	0.96812	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.67	5.67	0.87782	ZU5 (3);	0.000000	0.85682	D	0.000000	T	0.65780	0.2724	M	0.69358	2.11	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.85130	0.997;0.994;0.977;0.937;0.997;0.997	T	0.66736	-0.5848	10	0.72032	D	0.01	.	19.7607	0.96316	0.0:1.0:0.0:0.0	.	982;941;941;941;941;257	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.;.;ANK1_HUMAN;.;.;.	Q	941;941;941;941;941;941;982;941	ENSP00000339620:R941Q;ENSP00000289734:R941Q;ENSP00000369082:R941Q;ENSP00000380149:R941Q;ENSP00000380147:R941Q;ENSP00000309131:R941Q;ENSP00000265709:R982Q	ENSP00000265709:R982Q	R	-	2	0	ANK1	41673176	1.000000	0.71417	0.814000	0.32528	0.756000	0.42949	6.050000	0.71063	2.686000	0.91538	0.561000	0.74099	CGG		0.682	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		4	67	0	0	0	1	0	4	67					T	41554019	C	T	41554019	3	4	33	1	0	0	0	0	1	0	0	0	620	652	23	1	3217	1	ANK1	8	41554019	Missense_Mutation	SNP	C	TCGA-BJ-A3PR-01A-11D-A21Z-08		41554019	104810003	18	901											
VPS13A	23230	broad.mit.edu	37	chr9	79984308	79984308	+	Frame_Shift_Del	DEL	T	T	-													tttctgaaggtgtagaagcaTttttttatgaaccttaccag							TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr9:79984308delT	ENST00000360280.3	+	63	8907	c.8647delT	c.(8647-8649)tttfs	p.F2884fs	VPS13A_ENST00000376634.4_Frame_Shift_Del_p.F2884fs|VPS13A_ENST00000357409.5_Frame_Shift_Del_p.F2884fs|VPS13A_ENST00000376636.3_Frame_Shift_Del_p.F2845fs	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2884					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGTAGAAGCATTTTTTTATGA	0.303																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(8647-8649)ttfs		vacuolar protein sorting 13 homolog A (S. cerevisiae)							142	145	144					9																	79984308		2202	4300	6502	SO:0001589	frameshift_variant	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79984308delT	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.8647delT	9.37:g.79984308delT	ENSP00000353422:p.Phe2884fs					VPS13A_ENST00000376634.4_Frame_Shift_Del_p.F2884fs|VPS13A_ENST00000376636.3_Frame_Shift_Del_p.F2845fs|VPS13A_ENST00000357409.5_Frame_Shift_Del_p.F2884fs	p.F2884fs	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			63	8907	+			2884					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Frame_Shift_Del	DEL	ENST00000360280.3	37	c.8647delT	CCDS6655.1																																																																																				0.303	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		7	204						7	204	---	---	---	---	-	79984308	T	-	79984308	7	5	33	1	0	1	0	1	0	0	0	0	17186	1493	52	0	8897	0	VPS13A	9	79984308	Frame_Shift_Del	DEL	T	TCGA-BJ-A3PR-01A-11D-A21Z-08		79984308	61229123	19	902											
BAMBI	25805	broad.mit.edu	37	chr10	28970195	28970195	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cattgttttcaggtgaaattCgatgctactgtgatgctgcc	10	8	1	2			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr10:28970195C>T	ENST00000375533.3	+	2	641	c.85C>T	c.(85-87)Cga>Tga	p.R29*		NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	29					cell migration (GO:0016477)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell shape (GO:0008360)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|type II transforming growth factor beta receptor binding (GO:0005114)			central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						AGGTGAAATTCGATGCTACTG	0.433																																						ENST00000375533.3																			0				central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						c.(85-87)Cga>Tga		BMP and activin membrane-bound inhibitor							93	90	91					10																	28970195		2203	4300	6503	SO:0001587	stop_gained	25805				cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding	g.chr10:28970195C>T	U23070	CCDS7162.1	10p12.3-p11.2	2013-07-23	2013-07-23		ENSG00000095739	ENSG00000095739			30251	protein-coding gene	gene with protein product		604444	"BMP and activin membrane-bound inhibitor homolog (Xenopus laevis)"			8621228, 19758997	Standard	NM_012342		Approved	NMA	uc001iuj.1	Q13145	OTTHUMG00000017874	ENST00000375533.3:c.85C>T	10.37:g.28970195C>T	ENSP00000364683:p.Arg29*						p.R29*	NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN			2	641	+			29						Nonsense_Mutation	SNP	ENST00000375533.3	37	c.85C>T	CCDS7162.1	.	.	.	.	.	.	.	.	.	.	C	40	8.021380	0.98613	.	.	ENSG00000095739	ENST00000375533;ENST00000542444	.	.	.	5.64	1.99	0.26369	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7832	0.69781	0.6988:0.3012:0.0:0.0	.	.	.	.	X	29	.	ENSP00000364683:R29X	R	+	1	2	BAMBI	29010201	0.995000	0.38212	0.998000	0.56505	0.986000	0.74619	1.636000	0.37144	0.524000	0.28502	0.655000	0.94253	CGA		0.433	BAMBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047374.1	NM_012342		3	83	0	0	0	1	0	3	83					T	28970195	C	T	28970195	4	4	33	1	0	0	0	0	0	1	0	0	1306	876	31	1	91	1	BAMBI	10	28970195	Nonsense_Mutation	SNP	C	TCGA-BJ-A3PR-01A-11D-A21Z-08		28970195	106564552	20	903											
OR4X1	390113	broad.mit.edu	37	chr11	48285551	48285551	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atggcctcattgtggtgaccAtcctggccagcaaagtgctc	11	12	1	1			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr11:48285551A>T	ENST00000320048.1	+	1	139	c.139A>T	c.(139-141)Atc>Ttc	p.I47F		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TGTGGTGACCATCCTGGCCAG	0.493																																						ENST00000320048.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						c.(139-141)Atc>Ttc		olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)							178	159	166					11																	48285551		2201	4298	6499	SO:0001583	missense	390113				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48285551A>T	AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"GPCR / Class A : Olfactory receptors"	14854	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily X, member 1"				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.139A>T	11.37:g.48285551A>T	ENSP00000321506:p.Ile47Phe						p.I47F	NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN			1	139	+			47					Q6IF74	Missense_Mutation	SNP	ENST00000320048.1	37	c.139A>T	CCDS31487.1	.	.	.	.	.	.	.	.	.	.	A	9.029	0.986732	0.18889	.	.	ENSG00000176567	ENST00000320048	T	0.08546	3.08	4.29	-4.04	0.04010	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.18467	0.0443	H	0.94886	3.595	0.09310	N	1	P	0.48503	0.911	B	0.41988	0.372	T	0.22556	-1.0213	9	0.87932	D	0	.	11.4936	0.50396	0.492:0.0:0.508:0.0	.	47	Q8NH49	OR4X1_HUMAN	F	47	ENSP00000321506:I47F	ENSP00000321506:I47F	I	+	1	0	OR4X1	48242127	0.000000	0.05858	0.003000	0.11579	0.058000	0.15608	-0.061000	0.11693	-0.662000	0.05338	0.460000	0.39030	ATC		0.493	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726		7	62	0	0	0	1	0	7	62					T	48285551	A	T	48285551	3	4	33	1	0	0	0	0	1	0	0	0	11084	217	8	5	141	5	OR4X1	11	48285551	Missense_Mutation	SNP	A	TCGA-BJ-A3PR-01A-11D-A21Z-08		48285551	86720965	21	904											
TPTE2	93492	broad.mit.edu	37	chr13	20048099	20048099	+	Missense_Mutation	SNP	C	C	G													catccatgagaaaaaataagCcaatagctagagaaatagaa					rs201242841		TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr13:20048099C>G	ENST00000400230.2	-	6	391	c.347G>C	c.(346-348)gGc>gCc	p.G116A	TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382978.1_Missense_Mutation_p.G116A|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000390680.2_Missense_Mutation_p.G79A|TPTE2_ENST00000382975.4_Missense_Mutation_p.G116A|TPTE2_ENST00000255310.6_Missense_Mutation_p.G79A|TPTE2_ENST00000382977.4_Missense_Mutation_p.G116A			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	116					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.G116A(1)|p.G79A(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AAAAAATAAGCCAATAGCTAG	0.343																																						ENST00000400230.2																			2	Substitution - Missense(2)	p.G116A(1)|p.G79A(1)	endometrium(2)	NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(346-348)gGc>gCc		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							50	56	54					13																	20048099		2201	4296	6497	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20048099C>G	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.347G>C	13.37:g.20048099C>G	ENSP00000383089:p.Gly116Ala					TPTE2_ENST00000255310.6_Missense_Mutation_p.G79A|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000390680.2_Missense_Mutation_p.G79A|TPTE2_ENST00000382975.4_Missense_Mutation_p.G116A|TPTE2_ENST00000382977.4_Missense_Mutation_p.G116A|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382978.1_Missense_Mutation_p.G116A	p.G116A			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	6	391	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	116					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.347G>C	CCDS45014.1	252	0.11538461538461539	36	0.07317073170731707	19	0.052486187845303865	102	0.17832167832167833	95	0.12532981530343007	c	0	-2.627908	0.00115	.	.	ENSG00000132958	ENST00000382978;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000343548	D;D;D;D;D;D	0.98329	-4.32;-4.87;-4.32;-4.32;-4.87;-4.32	2.33	-2.37	0.06643	Ion transport (1);	0.296377	0.32503	N	0.006020	T	0.00695	0.0023	N	0.00104	-2.125	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.71702	-0.4513	9	.	.	.	-8.0858	6.9032	0.24295	0.0:0.5353:0.283:0.1817	.	79;116	Q6XPS3-3;Q6XPS3	.;TPTE2_HUMAN	A	116;116;79;79;116;116;116	ENSP00000372438:G116A;ENSP00000383089:G116A;ENSP00000255310:G79A;ENSP00000375098:G79A;ENSP00000372437:G116A;ENSP00000372435:G116A	.	G	-	2	0	TPTE2	18946099	0.991000	0.36638	0.001000	0.08648	0.000000	0.00434	1.799000	0.38824	-0.680000	0.05211	-1.933000	0.00509	GGC		0.343	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		3	152	0	0	0	1	0	3	152					G	20048099	C	G	20048099	3	3	33	1	0	0	0	0	1	0	0	0	16428	739	26	4	1281	4	TPTE2	13	20048099	Missense_Mutation	SNP	C	TCGA-BJ-A3PR-01A-11D-A21Z-08		20048099	95121779	22	905	4	2									
TPTE2	93492	broad.mit.edu	37	chr13	20048104	20048104	+	Silent	SNP	A	A	G													atgagaaaaaataagccaatAgctagagaaatagaacgata							TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr13:20048104A>G	ENST00000400230.2	-	6	386	c.342T>C	c.(340-342)gcT>gcC	p.A114A	TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382978.1_Silent_p.A114A|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000390680.2_Silent_p.A77A|TPTE2_ENST00000382975.4_Silent_p.A114A|TPTE2_ENST00000255310.6_Silent_p.A77A|TPTE2_ENST00000382977.4_Silent_p.A114A			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	114					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.A77A(1)|p.A114A(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ATAAGCCAATAGCTAGAGAAA	0.333																																						ENST00000400230.2																			2	Substitution - coding silent(2)	p.A77A(1)|p.A114A(1)	endometrium(2)	NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(340-342)gcT>gcC		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							51	57	55					13																	20048104		2201	4296	6497	SO:0001819	synonymous_variant	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20048104A>G	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.342T>C	13.37:g.20048104A>G						TPTE2_ENST00000255310.6_Silent_p.A77A|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000390680.2_Silent_p.A77A|TPTE2_ENST00000382975.4_Silent_p.A114A|TPTE2_ENST00000382977.4_Silent_p.A114A|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382978.1_Silent_p.A114A	p.A114A			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	6	386	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	114					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Silent	SNP	ENST00000400230.2	37	c.342T>C	CCDS45014.1																																																																																				0.333	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		3	153	0	0	0	1	0	3	153					G	20048104	A	G	20048104	2	3	33	1	0	0	0	0	0	0	0	1	16428	407	15	3		3	TPTE2	13	20048104	Silent	SNP	A	TCGA-BJ-A3PR-01A-11D-A21Z-08	5	20048104	95121774	23	906	4	2									
OR4N4	283694	broad.mit.edu	37	chr15	22382666	22382666	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctctatttatttctgggcaActtggccttcctggatgcat	8	11	2	0			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr15:22382666A>T	ENST00000328795.4	+	1	285	c.194A>T	c.(193-195)aAc>aTc	p.N65I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTTCTGGGCAACTTGGCCTTC	0.463																																						ENST00000328795.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40						c.(193-195)aAc>aTc		olfactory receptor, family 4, subfamily N, member 4							147	148	147					15																	22382666		2203	4297	6500	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22382666A>T	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"GPCR / Class A : Olfactory receptors"	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.194A>T	15.37:g.22382666A>T	ENSP00000332500:p.Asn65Ile					RP11-69H14.6_ENST00000558896.1_RNA	p.N65I	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	285	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	65					Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.194A>T	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	12.98	2.099462	0.37048	.	.	ENSG00000183706	ENST00000328795	T	0.13089	2.62	3.24	3.24	0.37175	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000079	T	0.26955	0.0660	L	0.60455	1.87	0.32265	N	0.569605	D	0.60575	0.988	P	0.62491	0.903	T	0.25152	-1.0140	10	0.59425	D	0.04	-6.4184	9.793	0.40717	1.0:0.0:0.0:0.0	.	65	Q8N0Y3	OR4N4_HUMAN	I	65	ENSP00000332500:N65I	ENSP00000332500:N65I	N	+	2	0	OR4N4	19884030	0.001000	0.12720	0.989000	0.46669	0.389000	0.30415	1.625000	0.37029	1.465000	0.48006	0.164000	0.16699	AAC		0.463	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			7	391	0	0	0	1	0	7	391					T	22382666	A	T	22382666	3	4	33	1	0	0	0	0	1	0	0	0	11078	43	2	5	196	5	OR4N4	15	22382666	Missense_Mutation	SNP	A	TCGA-BJ-A3PR-01A-11D-A21Z-08		22382666	80148726	24	907											
VPS13C	54832	broad.mit.edu	37	chr15	62305292	62305292	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaatttacattccagtaGgcgctaagactatcaagtcg	8	10	1	1			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr15:62305292G>A	ENST00000261517.5	-	11	844	c.771C>T	c.(769-771)gcC>gcT	p.A257A	VPS13C_ENST00000249837.3_Silent_p.A214A|VPS13C_ENST00000395898.3_Silent_p.A214A|VPS13C_ENST00000395896.4_Silent_p.A257A	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CATTCCAGTAGGCGCTAAGAC	0.348																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(769-771)gcC>gcT		vacuolar protein sorting 13 homolog C (S. cerevisiae)							78	73	74					15																	62305292		2203	4299	6502	SO:0001819	synonymous_variant	54832				protein localization			g.chr15:62305292G>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.771C>T	15.37:g.62305292G>A						VPS13C_ENST00000395896.4_Silent_p.A257A|VPS13C_ENST00000249837.3_Silent_p.A214A|VPS13C_ENST00000395898.3_Silent_p.A214A	p.A257A	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			11	844	-			257						Silent	SNP	ENST00000261517.5	37	c.771C>T	CCDS32257.1																																																																																				0.348	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		9	100	0	0	0	1	0	9	100					A	62305292	G	A	62305292	2	1	33	1	0	0	0	0	0	0	0	1	17188	987	35	2		2	VPS13C	15	62305292	Silent	SNP	G	TCGA-BJ-A3PR-01A-11D-A21Z-08	39922626	62305292	40226100	25	908											
COIL	8161	broad.mit.edu	37	chr17	55016500	55016500	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttgggtcaatcaactcttTccaaaatacagtgatctgag	7	9	5	2	rs533878148		TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr17:55016500T>C	ENST00000240316.4	-	7	1697	c.1663A>G	c.(1663-1665)Aaa>Gaa	p.K555E	RP5-1107A17.3_ENST00000572187.1_RNA	NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	555	Tudor; atypical.					Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					ATCAACTCTTTCCAAAATACA	0.388													T|||	1	0.000199681	0	0	5008	,	,		17301	0		0.001	False		,,,				2504	0					ENST00000240316.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15						c.(1663-1665)Aaa>Gaa		coilin							119	114	116					17																	55016500		2203	4300	6503	SO:0001583	missense	8161					Cajal body|nucleolus	protein C-terminus binding	g.chr17:55016500T>C	U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.1663A>G	17.37:g.55016500T>C	ENSP00000240316:p.Lys555Glu						p.K555E	NM_004645.2	NP_004636.1	P38432	COIL_HUMAN			7	1697	-	Breast(9;6.15e-08)		555					B2R931	Missense_Mutation	SNP	ENST00000240316.4	37	c.1663A>G	CCDS11592.1	.	.	.	.	.	.	.	.	.	.	T	11.31	1.600898	0.28534	.	.	ENSG00000121058	ENST00000240316	T	0.35048	1.33	4.84	4.84	0.62591	.	0.333481	0.31872	N	0.006935	T	0.21468	0.0517	N	0.14661	0.345	0.21950	N	0.999451	B	0.02656	0.0	B	0.08055	0.003	T	0.11012	-1.0605	10	0.32370	T	0.25	-14.4845	10.9787	0.47482	0.0:0.0:0.0:1.0	.	555	P38432	COIL_HUMAN	E	555	ENSP00000240316:K555E	ENSP00000240316:K555E	K	-	1	0	COIL	52371499	1.000000	0.71417	1.000000	0.80357	0.505000	0.33919	1.545000	0.36169	2.173000	0.68751	0.533000	0.62120	AAA		0.388	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1			6	141	0	0	0	1	0	6	141					C	55016500	T	C	55016500	3	2	33	1	0	0	0	0	1	0	0	0	3665	1792	62	3	71	3	COIL	17	55016500	Missense_Mutation	SNP	T	TCGA-BJ-A3PR-01A-11D-A21Z-08		55016500	26178710	26	909											
CEP192	55125	broad.mit.edu	37	chr18	13100361	13100361	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtggaacttttaactcgtTtgacctccaaaccatttgga	7	9	0	1			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr18:13100361T>G	ENST00000325971.8	+	36	6526	c.4933T>G	c.(4933-4935)Ttg>Gtg	p.L1645V	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000506447.1_Missense_Mutation_p.L2241V|CEP192_ENST00000430049.2_Missense_Mutation_p.L1766V			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1645					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						TTTAACTCGTTTGACCTCCAA	0.363																																						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.(6721-6723)Ttg>Gtg		centrosomal protein 192kDa							77	75	76					18																	13100361		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13100361T>G	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.4933T>G	18.37:g.13100361T>G	ENSP00000317156:p.Leu1645Val					CEP192_ENST00000325971.8_Missense_Mutation_p.L1645V|CEP192_ENST00000430049.2_Missense_Mutation_p.L1766V|CEP192_ENST00000540847.2_3'UTR	p.L2241V	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			38	6801	+			1836					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.6721T>G		.	.	.	.	.	.	.	.	.	.	T	4.087	0.014049	0.07959	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049;ENST00000540847	T;T;T	0.06528	3.29;3.29;3.29	5.52	0.189	0.15119	.	1.695950	0.02940	N	0.140341	T	0.09291	0.0229	L	0.56769	1.78	0.09310	N	1	P;P;P;B	0.45827	0.867;0.604;0.744;0.001	P;B;B;B	0.44811	0.461;0.271;0.21;0.002	T	0.29088	-1.0023	10	0.21014	T	0.42	2.1655	3.4464	0.07482	0.1317:0.0839:0.4427:0.3417	.	1766;2241;245;843	C9JT09;E9PF99;F5GZ47;Q9HCK3	.;.;.;.	V	2241;1645;1645;1766;245	ENSP00000427550:L2241V;ENSP00000317156:L1645V;ENSP00000389190:L1766V	ENSP00000317156:L1645V	L	+	1	2	CEP192	13090361	0.000000	0.05858	0.000000	0.03702	0.279000	0.26890	0.550000	0.23345	-0.118000	0.11851	-0.313000	0.08912	TTG		0.363	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		8	117	0	0	0	1	0	8	117					G	13100361	T	G	13100361	3	3	33	1	0	0	0	0	1	0	0	0	3251	1838	64	5	6867	5	CEP192	18	13100361	Missense_Mutation	SNP	T	TCGA-BJ-A3PR-01A-11D-A21Z-08		13100361	64976887	27	910											
EBI3	10148	broad.mit.edu	37	chr19	4236975	4236975	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcatcctcagggctgtgCggccccgagccaggtactac	11	16	2	0	rs182560914		TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr19:4236975C>T	ENST00000221847.5	+	5	633	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W		NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN	Epstein-Barr virus induced 3	194	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|humoral immune response (GO:0006959)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|T-helper 1 type immune response (GO:0042088)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGGCTGTGCGGCCCCGAGC	0.607													C|||	1	0.000199681	0	0	5008	,	,		14648	0		0.001	False		,,,				2504	0					ENST00000221847.5																			0				large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(580-582)Cgg>Tgg		Epstein-Barr virus induced 3							58	57	57					19																	4236975		2203	4300	6503	SO:0001583	missense	10148				humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process|T-helper 1 type immune response	extracellular space|plasma membrane	cytokine activity|cytokine receptor activity	g.chr19:4236975C>T	L08187	CCDS12123.1	19p13	2013-02-11	2008-09-12		ENSG00000105246	ENSG00000105246		"Fibronectin type III domain containing"	3129	protein-coding gene	gene with protein product	"IL27 subunit", "IL35 subunit"	605816				8551575	Standard	NM_005755		Approved		uc002lzu.3	Q14213		ENST00000221847.5:c.580C>T	19.37:g.4236975C>T	ENSP00000221847:p.Arg194Trp						p.R194W	NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)	5	633	+		Hepatocellular(1079;0.137)	194			Fibronectin type-III 2.		A0N0N2|O75269	Missense_Mutation	SNP	ENST00000221847.5	37	c.580C>T	CCDS12123.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.49	1.954193	0.34471	.	.	ENSG00000105246	ENST00000221847	T	0.59502	0.26	5.41	-0.774	0.10991	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.861076	0.10217	N	0.701413	T	0.47544	0.1451	L	0.54323	1.7	0.09310	N	1	B	0.26147	0.143	B	0.20577	0.03	T	0.36939	-0.9727	10	0.40728	T	0.16	-21.3836	7.7652	0.28976	0.4553:0.4575:0.0:0.0872	.	194	Q14213	IL27B_HUMAN	W	194	ENSP00000221847:R194W	ENSP00000221847:R194W	R	+	1	2	EBI3	4187975	0.000000	0.05858	0.002000	0.10522	0.035000	0.12851	-0.061000	0.11693	-0.095000	0.12351	0.650000	0.86243	CGG		0.607	EBI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458005.1			3	85	0	0	0	1	0	3	85					T	4236975	C	T	4236975	3	4	33	1	0	0	0	0	1	0	0	0	4883	759	27	1	598	1	EBI3	19	4236975	Missense_Mutation	SNP	C	TCGA-BJ-A3PR-01A-11D-A21Z-08		4236975	54892008	28	911											
SPTBN4	57731	broad.mit.edu	37	chr19	41026051	41026051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcgctcgtggtgctgcGtaaccaggtgcccactcggg	15	14	0	0			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr19:41026051G>A	ENST00000352632.3	+	16	3733	c.3647G>A	c.(3646-3648)cGt>cAt	p.R1216H	SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1216H|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R1216H|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1216H|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1216H			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1216					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GTGGTGCTGCGTAACCAGGTG	0.672																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(3646-3648)cGt>cAt		spectrin, beta, non-erythrocytic 4							9	10	10					19																	41026051		2109	4128	6237	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41026051G>A	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.3647G>A	19.37:g.41026051G>A	ENSP00000263373:p.Arg1216His					SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1216H|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1216H|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1216H|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R1216H	p.R1216H			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		16	3733	+			1216					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.3647G>A	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	8.981	0.975268	0.18736	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.75154	-0.91;1.27;1.27	3.89	-0.906	0.10524	.	0.293275	0.28332	U	0.015737	T	0.40423	0.1116	N	0.01352	-0.895	0.80722	D	1	B;B	0.20261	0.043;0.0	B;B	0.08055	0.002;0.003	T	0.14254	-1.0479	10	0.72032	D	0.01	.	7.0653	0.25149	0.6735:0.0:0.3265:0.0	.	1216;1216	Q9H254;Q71S06	SPTN4_HUMAN;.	H	1216	ENSP00000263373:R1216H;ENSP00000340345:R1216H;ENSP00000340741:R1216H	ENSP00000340345:R1216H	R	+	2	0	SPTBN4	45717891	0.000000	0.05858	0.225000	0.23894	0.063000	0.16089	-0.126000	0.10563	0.028000	0.15324	-0.379000	0.06801	CGT		0.672	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			3	20	0	0	0	1	0	3	20					A	41026051	G	A	41026051	3	1	33	1	0	0	0	0	1	0	0	0	15120	1145	40	1	3705	1	SPTBN4	19	41026051	Missense_Mutation	SNP	G	TCGA-BJ-A3PR-01A-11D-A21Z-08	36789076	41026051	18102932	29	912											
ZNF347	84671	broad.mit.edu	37	chr19	53644386	53644386	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttacatttgtaaggtttttcTccagtatggatgacctgatg	9	6	1	2			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr19:53644386T>A	ENST00000334197.7	-	5	1763	c.1695A>T	c.(1693-1695)ggA>ggT	p.G565G	ZNF347_ENST00000452676.2_Silent_p.G566G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					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(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAGGTTTTTCTCCAGTATGGA	0.408																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1696-1698)ggA>ggT		zinc finger protein 347							156	149	152					19																	53644386		2203	4300	6503	SO:0001819	synonymous_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644386T>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"Zinc fingers, C2H2-type", "-"	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1695A>T	19.37:g.53644386T>A						ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000334197.7_Silent_p.G565G|ZNF347_ENST00000601804.1_Intron	p.G566G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2124	-			565					B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	c.1698A>T	CCDS33097.1																																																																																				0.408	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		8	279	0	0	0	1	0	8	279					A	53644386	T	A	53644386	2	1	33	1	0	0	0	0	0	0	0	1	17858	1538	54	5		5	ZNF347	19	53644386	Silent	SNP	T	TCGA-BJ-A3PR-01A-11D-A21Z-08	12618335	53644386	5484597	30	913											
ZNF665	79788	broad.mit.edu	37	chr19	53668940	53668940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgtgctctaaaggctttgCcacactcattacacttgtaa	6	10	2	0			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr19:53668940C>T	ENST00000600412.1	-	2	723	c.608G>A	c.(607-609)gGc>gAc	p.G203D	CTD-2245F17.2_ENST00000600257.1_RNA|ZNF665_ENST00000396424.3_Missense_Mutation_p.G268D			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	203					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		AAAGGCTTTGCCACACTCATT	0.393																																						ENST00000600412.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(607-609)gGc>gAc		zinc finger protein 665							122	131	128					19																	53668940		2203	4300	6503	SO:0001583	missense	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53668940C>T		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"Zinc fingers, C2H2-type", "-"	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.608G>A	19.37:g.53668940C>T	ENSP00000469154:p.Gly203Asp					ZNF665_ENST00000396424.3_Missense_Mutation_p.G268D	p.G203D			Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	2	723	-			203					A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37	c.608G>A		.	.	.	.	.	.	.	.	.	.	C	9.115	1.007516	0.19199	.	.	ENSG00000197497	ENST00000396424	T	0.20881	2.04	2.07	-1.76	0.08006	.	.	.	.	.	T	0.24586	0.0596	L	0.31420	0.93	0.09310	N	0.999999	D	0.63880	0.993	D	0.67900	0.954	T	0.14896	-1.0456	9	0.56958	D	0.05	.	3.2245	0.06728	0.1911:0.4318:0.0:0.3772	.	268	Q9H7R5-2	.	D	268	ENSP00000379702:G268D	ENSP00000379702:G268D	G	-	2	0	ZNF665	58360752	0.000000	0.05858	0.005000	0.12908	0.165000	0.22458	-1.020000	0.03618	-0.179000	0.10654	0.436000	0.28706	GGC		0.393	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		5	248	0	0	0	1	0	5	248					T	53668940	C	T	53668940	3	4	33	1	0	0	0	0	1	0	0	0	18070	739	26	2	1237	2	ZNF665	19	53668940	Missense_Mutation	SNP	C	TCGA-BJ-A3PR-01A-11D-A21Z-08	24554	53668940	5460043	31	914											
NHSL2	340527	broad.mit.edu	37	chrX	71360543	71360543	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaccaagtgtcccgccaccGgcgatgacctgcaatcactt	8	16	1	1			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chrX:71360543G>T	ENST00000373677.1	+	2	3309	c.2047G>T	c.(2047-2049)Ggc>Tgc	p.G683C	NHSL2_ENST00000535692.1_Missense_Mutation_p.G683C|NHSL2_ENST00000540800.1_Missense_Mutation_p.G1049C|NHSL2_ENST00000510661.1_Missense_Mutation_p.G818C			Q5HYW2	NHSL2_HUMAN	NHS-like 2	683										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					TCCCGCCACCGGCGATGACCT	0.562																																						ENST00000373677.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28						c.(2047-2049)Ggc>Tgc		NHS-like 2							53	49	50					X																	71360543		2203	4300	6503	SO:0001583	missense	340527							g.chrX:71360543G>T			Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.2047G>T	X.37:g.71360543G>T	ENSP00000362781:p.Gly683Cys					NHSL2_ENST00000540800.1_Missense_Mutation_p.G1049C|NHSL2_ENST00000535692.1_Missense_Mutation_p.G683C|NHSL2_ENST00000510661.1_Missense_Mutation_p.G818C	p.G683C			F5H593	F5H593_HUMAN			2	3309	+	Renal(35;0.156)		1049					B2RN94	Missense_Mutation	SNP	ENST00000373677.1	37	c.2047G>T		.	.	.	.	.	.	.	.	.	.	G	14.45	2.538055	0.45176	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.49720	1.45;0.8;0.77;0.8	6.08	-9.76	0.00503	.	1.007180	0.07974	N	0.984427	T	0.25791	0.0628	N	0.22421	0.69	0.09310	N	1	B;B;B	0.16603	0.007;0.018;0.018	B;B;B	0.15484	0.013;0.013;0.013	T	0.32161	-0.9917	10	0.59425	D	0.04	-0.0168	6.4653	0.21977	0.5785:0.1589:0.1872:0.0754	.	1049;818;683	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	C	1049;683;818;683	ENSP00000444617:G1049C;ENSP00000362781:G683C;ENSP00000424079:G818C;ENSP00000444914:G683C	ENSP00000362781:G683C	G	+	1	0	NHSL2	71277268	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.399000	0.07250	-2.498000	0.00512	-0.905000	0.02835	GGC		0.562	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627		3	72	1	0	1	1	1	3	72					T	71360543	G	T	71360543	3	4	33	1	0	0	0	0	1	0	0	0	10412	1116	39	4	3167	4	NHSL2	23	71360543	Missense_Mutation	SNP	G	TCGA-BJ-A3PR-01A-11D-A21Z-08		71360543	83910017	32	915											
PRPF38B	55119	broad.mit.edu	37	chr1	109235326	109235326	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcggcgctaccaagccggCggtctccggcaagcagggca	16	15	1	0			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr1:109235326C>T	ENST00000370025.4	+	1	382	c.113C>T	c.(112-114)gCg>gTg	p.A38V	PRPF38B_ENST00000370021.1_5'UTR|PRPF38B_ENST00000370022.5_Missense_Mutation_p.A38V|PRPF38B_ENST00000467302.1_3'UTR	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	38					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			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)		ACCAAGCCGGCGGTCTCCGGC	0.667																																						ENST00000370025.4																			0				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19						c.(112-114)gCg>gTg		pre-mRNA processing factor 38B							47	37	40					1																	109235326		2202	4299	6501	SO:0001583	missense	55119				mRNA processing|RNA splicing	spliceosomal complex		g.chr1:109235326C>T	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.113C>T	1.37:g.109235326C>T	ENSP00000359042:p.Ala38Val					PRPF38B_ENST00000370021.1_5'UTR|PRPF38B_ENST00000370022.5_Missense_Mutation_p.A38V|PRPF38B_ENST00000467302.1_3'UTR	p.A38V	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	382	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	38					Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Missense_Mutation	SNP	ENST00000370025.4	37	c.113C>T	CCDS788.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080998	0.76528	.	.	ENSG00000134186	ENST00000370025;ENST00000370022	.	.	.	5.64	2.67	0.31697	.	0.165964	0.53938	N	0.000048	T	0.21631	0.0521	N	0.19112	0.55	0.80722	D	1	B	0.11235	0.004	B	0.06405	0.002	T	0.05903	-1.0857	9	0.36615	T	0.2	.	9.2823	0.37735	0.0:0.7481:0.1194:0.1324	.	38	Q5VTL8	PR38B_HUMAN	V	38	.	ENSP00000359039:A38V	A	+	2	0	PRPF38B	109036849	1.000000	0.71417	0.987000	0.45799	0.969000	0.65631	3.893000	0.56243	0.755000	0.32990	0.462000	0.41574	GCG		0.667	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	NM_018061		4	49	0	0	0	0.150653	0	4	49					T	109235326	C	T	109235326	3	4	34	1	0	0	0	0	1	0	0	0	12568	768	27	1	115	1	PRPF38B	1	109235326	Missense_Mutation	SNP	C	TCGA-BJ-A3PT-01A-12D-A21Z-08		109235326	140015295	1	916											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290	byFrequency	TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		neuroblastoma RAS viral (v-ras) oncogene homolog							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		85	172	0	0	0	0.870114	0	85	172					C	115256529	T	C	115256529	3	2	34	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-BJ-A3PT-01A-12D-A21Z-08	6021203	115256529	133994092	2	917											
PRPF3	9129	broad.mit.edu	37	chr1	150307507	150307507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagattgagctgacacaccGcatgcctactctgaaagcca	10	12	1	4			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr1:150307507G>A	ENST00000324862.6	+	7	995	c.830G>A	c.(829-831)cGc>cAc	p.R277H	PRPF3_ENST00000414970.2_Missense_Mutation_p.R228H|PRPF3_ENST00000543398.1_Missense_Mutation_p.R142H|PRPF3_ENST00000467329.1_3'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	277					mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CTGACACACCGCATGCCTACT	0.458																																					Ovarian(168;1070 2670 5178 20729)	ENST00000324862.6																			0				breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(829-831)cGc>cAc		pre-mRNA processing factor 3							116	93	101					1																	150307507		2203	4300	6503	SO:0001583	missense	9129				nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding	g.chr1:150307507G>A	AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"retinitis pigmentosa 18 (autosomal dominant)", "PRP3 pre-mRNA processing factor 3 homolog (yeast)", "PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.830G>A	1.37:g.150307507G>A	ENSP00000315379:p.Arg277His					PRPF3_ENST00000414970.2_Missense_Mutation_p.R228H|PRPF3_ENST00000543398.1_Missense_Mutation_p.R142H|PRPF3_ENST00000467329.1_3'UTR	p.R277H	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)	7	995	+	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		277					B4DSY9|O43446|Q5VT54	Missense_Mutation	SNP	ENST00000324862.6	37	c.830G>A	CCDS951.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249198	0.59103	.	.	ENSG00000117360	ENST00000324862;ENST00000414970;ENST00000543398	T;T	0.77750	-1.12;-1.1	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.66446	0.2790	M	0.68952	2.095	0.80722	D	1	B;B	0.22080	0.064;0.064	B;B	0.14578	0.011;0.011	T	0.65187	-0.6229	10	0.13853	T	0.58	-5.0451	20.0822	0.97779	0.0:0.0:1.0:0.0	.	228;277	E7EVD1;O43395	.;PRPF3_HUMAN	H	277;228;142	ENSP00000315379:R277H;ENSP00000387844:R228H	ENSP00000315379:R277H	R	+	2	0	PRPF3	148574131	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	9.511000	0.98006	2.826000	0.97356	0.563000	0.77884	CGC		0.458	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1	NM_004698		3	51	0	0	0	0.115264	0	3	51					A	150307507	G	A	150307507	3	1	34	1	0	0	0	0	1	0	0	0	12565	1087	38	1	852	1	PRPF3	1	150307507	Missense_Mutation	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08	35050978	150307507	98943114	3	918											
GON4L	54856	broad.mit.edu	37	chr1	155796629	155796629	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagaaaaagaaagcctaccCattggaatgaagagtccacc	8	9	0	4			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr1:155796629C>T	ENST00000368331.1	-	3	744	c.696G>A	c.(694-696)atG>atA	p.M232I	GON4L_ENST00000361040.5_Splice_Site_p.M232I|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Splice_Site_p.M232I|GON4L_ENST00000271883.5_Splice_Site_p.M232I	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	232					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)					AAAGCCTACCCATTGGAATGA	0.383																																						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.e3+1		gon-4-like (C. elegans)							81	80	81					1																	155796629		2203	4300	6503	SO:0001630	splice_region_variant	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155796629C>T	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.697+1G>A	1.37:g.155796629C>T						GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Splice_Site_p.M232_splice|GON4L_ENST00000271883.5_Splice_Site_p.M232_splice|GON4L_ENST00000368331.1_Splice_Site_p.M232_splice	p.M232_splice			Q3T8J9	GON4L_HUMAN			3	818	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		232					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Splice_Site	SNP	ENST00000368331.1	37	c.697_splice		.	.	.	.	.	.	.	.	.	.	C	10.23	1.292817	0.23564	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	T;T;T;T	0.11385	2.98;2.98;2.98;2.78	4.47	2.38	0.29361	.	0.300219	0.27851	N	0.017588	T	0.01905	0.0060	L	0.27053	0.805	0.21802	N	0.999533	B;B;B;B	0.19706	0.022;0.001;0.022;0.038	B;B;B;B	0.18871	0.023;0.003;0.006;0.014	T	0.46048	-0.9219	10	0.17832	T	0.49	.	6.628	0.22841	0.1984:0.5914:0.2102:0.0	.	232;232;232;232	A4PB68;Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	I	232	ENSP00000396117:M232I;ENSP00000357315:M232I;ENSP00000271883:M232I;ENSP00000354322:M232I	ENSP00000271883:M232I	M	-	3	0	GON4L	154063253	0.990000	0.36364	1.000000	0.80357	0.993000	0.82548	0.449000	0.21744	1.202000	0.43218	0.491000	0.48974	ATG		0.383	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292	Missense_Mutation	5	77	0	0	0	0.217242	0	5	77					T	155796629	C	T	155796629	5	4	34	1	0	0	0	0	0	0	1	0	6572	608	21	2	6263	2	GON4L	1	155796629	Splice_Site	SNP	C	TCGA-BJ-A3PT-01A-12D-A21Z-08	5489122	155796629	93453992	4	919											
DISC1	27185	broad.mit.edu	37	chr1	231885806	231885806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtccaggctgccttgcgcCgtggggccactcagcagtga	14	13	1	1			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr1:231885806C>T	ENST00000602281.1	+	4	1305	c.1252C>T	c.(1252-1254)Cgt>Tgt	p.R418C	DISC1_ENST00000537876.1_Missense_Mutation_p.R418C|DISC1_ENST00000602873.1_Missense_Mutation_p.R68C|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000535983.1_Missense_Mutation_p.R418C|DISC1_ENST00000366636.4_Missense_Mutation_p.R418C|DISC1_ENST00000439617.2_Missense_Mutation_p.R418C|DISC1_ENST00000366633.3_Missense_Mutation_p.R418C|DISC1_ENST00000539444.1_Missense_Mutation_p.R418C|TSNAX-DISC1_ENST00000602962.1_3'UTR	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	418	Interaction with TRAF3IP1.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				TGCCTTGCGCCGTGGGGCCAC	0.527																																						ENST00000439617.2																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						c.(1252-1254)Cgt>Tgt		disrupted in schizophrenia 1							69	70	70					1																	231885806		2203	4300	6503	SO:0001583	missense	27185				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding	g.chr1:231885806C>T	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.1252C>T	1.37:g.231885806C>T	ENSP00000473425:p.Arg418Cys					DISC1_ENST00000539444.1_Missense_Mutation_p.R418C|DISC1_ENST00000602281.1_Missense_Mutation_p.R418C|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000535983.1_Missense_Mutation_p.R418C|DISC1_ENST00000537876.1_Missense_Mutation_p.R418C|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000366633.3_Missense_Mutation_p.R418C|DISC1_ENST00000602873.1_Missense_Mutation_p.R68C|DISC1_ENST00000366636.4_Missense_Mutation_p.R418C	p.R418C	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN			4	1305	+		all_cancers(173;0.0208)|Prostate(94;0.0975)	418			Interaction with TRAF3IP1.		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	ENST00000602281.1	37	c.1252C>T	CCDS59205.1	.	.	.	.	.	.	.	.	.	.	.	17.40	3.379182	0.61735	.	.	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000537876;ENST00000366633;ENST00000539444;ENST00000295051;ENST00000535944	T;T;T;T;T;T;T;T	0.18657	2.61;2.44;2.44;2.23;2.61;2.25;2.24;2.2	4.32	0.511	0.16989	.	2.081170	0.03736	N	0.254267	T	0.31827	0.0809	L	0.36672	1.1	0.09310	N	1	D;D;D;D;D;D;D;D;D;D;B;D;D;D;D;D;D;D;D	0.89917	1.0;0.976;1.0;0.999;1.0;0.999;0.998;1.0;0.996;0.999;0.006;0.998;0.999;0.999;1.0;0.998;1.0;0.998;0.998	P;B;D;P;D;P;P;D;P;P;B;P;P;P;P;P;P;P;P	0.65874	0.899;0.431;0.911;0.827;0.939;0.827;0.731;0.939;0.55;0.827;0.002;0.731;0.827;0.827;0.899;0.731;0.899;0.731;0.731	T	0.12760	-1.0535	10	0.87932	D	0	-0.4317	3.0663	0.06215	0.0:0.4068:0.2221:0.3712	.	450;418;450;418;418;418;418;418;68;418;418;418;418;418;418;418;418;418;418	C4P096;C4P094;E2QRA4;C4P0A3;C4P098;C4P0A1;C4P0A4;A6NLH2;C4P0C1;C4P0A5;C4P095;C4P0B6;C4P0C4;C4P0B1;A7E2W8;Q5T409;Q9NRI5-2;Q9NRI5;Q9NRI5-3	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.	C	418;418;418;450;418;418;418;418;418;418;418	ENSP00000403888:R418C;ENSP00000355596:R418C;ENSP00000443996:R418C;ENSP00000440909:R418C;ENSP00000355593:R418C;ENSP00000440953:R418C;ENSP00000295051:R418C;ENSP00000441193:R418C	ENSP00000295051:R418C	R	+	1	0	DISC1	229952429	0.000000	0.05858	0.000000	0.03702	0.483000	0.33249	-0.337000	0.07852	0.063000	0.16370	0.655000	0.94253	CGT		0.527	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	NM_018662		5	94	0	0	0	0.217242	0	5	94					T	231885806	C	T	231885806	3	4	34	1	0	0	0	0	1	0	0	0	4538	652	23	1	1625	1	DISC1	1	231885806	Missense_Mutation	SNP	C	TCGA-BJ-A3PT-01A-12D-A21Z-08	76089177	231885806	17364815	5	920											
PDE1A	5136	broad.mit.edu	37	chr2	183387037	183387037	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgccacattttttcagtctGttctcctgtaagatacttaa	5	10	3	1			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr2:183387037G>T	ENST00000410103.1	-	2	150	c.67C>A	c.(67-69)Cag>Aag	p.Q23K	PDE1A_ENST00000358139.2_Missense_Mutation_p.Q23K|PDE1A_ENST00000456212.1_Missense_Mutation_p.Q23K|PDE1A_ENST00000331935.6_Missense_Mutation_p.Q23K|PDE1A_ENST00000536095.1_5'UTR|PDE1A_ENST00000435564.1_Missense_Mutation_p.Q23K	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	23					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TTTTCAGTCTGTTCTCCTGTA	0.398																																						ENST00000435564.1																			0				endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35						c.(67-69)Cag>Aag		phosphodiesterase 1A, calmodulin-dependent							147	147	147					2																	183387037		2202	4300	6502	SO:0001583	missense	0				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr2:183387037G>T		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"Phosphodiesterases"	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.67C>A	2.37:g.183387037G>T	ENSP00000387037:p.Gln23Lys					PDE1A_ENST00000536095.1_5'UTR|PDE1A_ENST00000358139.2_Missense_Mutation_p.Q23K|PDE1A_ENST00000331935.6_Missense_Mutation_p.Q23K|PDE1A_ENST00000456212.1_Missense_Mutation_p.Q23K|PDE1A_ENST00000410103.1_Missense_Mutation_p.Q23K	p.Q23K	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)		1	267	-			23					D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP	ENST00000410103.1	37	c.67C>A	CCDS33344.1	.	.	.	.	.	.	.	.	.	.	G	9.327	1.059621	0.19987	.	.	ENSG00000115252	ENST00000435564;ENST00000331935;ENST00000410103;ENST00000358139;ENST00000456212	T;T;T;T;T	0.70045	-0.43;-0.43;-0.44;-0.44;-0.45	5.73	5.73	0.89815	.	0.667620	0.14105	N	0.341135	T	0.56659	0.2000	L	0.46157	1.445	0.31181	N	0.702087	B;P	0.35033	0.349;0.481	B;B	0.33454	0.079;0.164	T	0.55573	-0.8120	10	0.10636	T	0.68	.	12.2252	0.54455	0.0775:0.0:0.9225:0.0	.	23;23	P54750;P54750-4	PDE1A_HUMAN;.	K	23	ENSP00000410309:Q23K;ENSP00000331574:Q23K;ENSP00000387037:Q23K;ENSP00000350858:Q23K;ENSP00000408874:Q23K	ENSP00000331574:Q23K	Q	-	1	0	PDE1A	183095282	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.010000	0.57117	2.714000	0.92807	0.591000	0.81541	CAG		0.398	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1			23	123	1	0	5.61819e-17	0.693898	6.77064e-17	23	123					T	183387037	G	T	183387037	3	4	34	1	0	0	0	0	1	0	0	0	11633	1386	48	4	1674	4	PDE1A	2	183387037	Missense_Mutation	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08		183387037	59812336	6	921											
SP140	11262	broad.mit.edu	37	chr2	231135315	231135315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccagatactgtggatattGcaaacaactccactttggga	8	9	0	1			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr2:231135315G>A	ENST00000392045.3	+	15	1573	c.1459G>A	c.(1459-1461)Gca>Aca	p.A487T	SP140_ENST00000343805.6_Missense_Mutation_p.A427T|SP140_ENST00000417495.3_Missense_Mutation_p.A373T|SP140_ENST00000486687.2_Missense_Mutation_p.A411T|SP140_ENST00000350136.5_Missense_Mutation_p.A356T|SP140_ENST00000420434.3_Missense_Mutation_p.A460T	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	487					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGTGGATATTGCAAACAACTC	0.308																																						ENST00000392045.3																			0				NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						c.(1459-1461)Gca>Aca		SP140 nuclear body protein							73	67	69					2																	231135315		1798	4067	5865	SO:0001583	missense	11262				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:231135315G>A	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"Zinc fingers, PHD-type"	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.1459G>A	2.37:g.231135315G>A	ENSP00000375899:p.Ala487Thr					SP140_ENST00000417495.3_Missense_Mutation_p.A373T|SP140_ENST00000486687.2_Missense_Mutation_p.A411T|SP140_ENST00000420434.3_Missense_Mutation_p.A460T|SP140_ENST00000350136.5_Missense_Mutation_p.A356T|SP140_ENST00000343805.6_Missense_Mutation_p.A427T	p.A487T	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	15	1573	+		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	487					E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	c.1459G>A	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	G	4.033	0.003742	0.07866	.	.	ENSG00000079263	ENST00000486687;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434	T;T;T;T;T	0.58210	0.56;0.89;0.63;0.35;0.64	2.98	0.0753	0.14399	.	.	.	.	.	T	0.26159	0.0638	N	0.14661	0.345	0.09310	N	1	P;B;B;B	0.36048	0.534;0.079;0.435;0.016	B;B;B;B	0.29353	0.068;0.019;0.101;0.014	T	0.11966	-1.0566	9	0.21014	T	0.42	-3.8702	5.5523	0.17097	0.3948:0.0:0.6052:0.0	.	460;373;427;487	E7EUR5;E7ESH9;E9PFJ6;Q13342	.;.;.;LY10_HUMAN	T	411;356;487;373;427;460	ENSP00000440107:A411T;ENSP00000345846:A356T;ENSP00000375899:A487T;ENSP00000342096:A427T;ENSP00000398210:A460T	ENSP00000342096:A427T	A	+	1	0	SP140	230843559	0.026000	0.19158	0.000000	0.03702	0.001000	0.01503	-0.063000	0.11655	0.013000	0.14918	-0.145000	0.13849	GCA		0.308	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		12	141	0	0	0	0.500413	0	12	141					A	231135315	G	A	231135315	3	1	34	1	0	0	0	0	1	0	0	0	14962	1319	46	2	1634	2	SP140	2	231135315	Missense_Mutation	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08	47748278	231135315	12064058	7	922											
ITPR1	3708	broad.mit.edu	37	chr3	4824425	4824425	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atctacatattagcccatcaGgtatgatctctcctgtgcct	6	12	3	1			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr3:4824425G>C	ENST00000443694.2	+	47	6465	c.6465G>C	c.(6463-6465)caG>caC	p.Q2155H	ITPR1_ENST00000354582.6_Splice_Site_p.Q2155H|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Splice_Site_p.Q2122H|ITPR1_ENST00000456211.2_Splice_Site_p.Q2107H|ITPR1_ENST00000302640.8_Splice_Site_p.Q2155H|ITPR1_ENST00000423119.2_Splice_Site_p.Q2122H			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2170					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TAGCCCATCAGGTATGATCTC	0.527																																						ENST00000354582.6																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.e49+1		inositol 1,4,5-trisphosphate receptor, type 1							72	80	77					3																	4824425		2080	4188	6268	SO:0001630	splice_region_variant	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4824425G>C	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.6465+1G>C	3.37:g.4824425G>C						ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Splice_Site_p.Q2107_splice|ITPR1_ENST00000443694.2_Splice_Site_p.Q2155_splice|ITPR1_ENST00000423119.2_Splice_Site_p.Q2122_splice|ITPR1_ENST00000357086.4_Splice_Site_p.Q2122_splice|ITPR1_ENST00000302640.8_Splice_Site_p.Q2155_splice	p.Q2155_splice			Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	49	6815	+			2170					E7EPX7|E9PDE9|Q14660|Q99897	Splice_Site	SNP	ENST00000443694.2	37	c.6465_splice	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.743139	0.49151	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05;-3.04;-3.05	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.96002	0.8698	M	0.79475	2.455	0.80722	D	1	D;D	0.76494	0.993;0.999	P;D	0.72982	0.907;0.979	D	0.96302	0.9222	10	0.66056	D	0.02	.	18.6784	0.91537	0.0:0.0:1.0:0.0	.	2170;2122	Q14643;G5E9P1	ITPR1_HUMAN;.	H	2170;2155;2155;2122;616;2122;2107;2155	ENSP00000306253:Q2155H;ENSP00000346595:Q2155H;ENSP00000405934:Q2122H;ENSP00000349597:Q2122H;ENSP00000397885:Q2107H;ENSP00000401671:Q2155H	ENSP00000306253:Q2155H	Q	+	3	2	ITPR1	4799425	1.000000	0.71417	1.000000	0.80357	0.055000	0.15305	5.514000	0.67043	2.407000	0.81776	0.655000	0.94253	CAG		0.527	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222	Missense_Mutation	4	42	0	0	0	0.184627	0	4	42					C	4824425	G	C	4824425	5	2	34	1	0	0	0	0	0	0	1	0	7920	1014	35	4	6700	4	ITPR1	3	4824425	Splice_Site	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08		4824425	193198005	8	923											
RAPGEF6	51735	broad.mit.edu	37	chr5	130825338	130825338	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaagttttgtccatttaCttccataatcttaaaagtat	3	8	2	0			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr5:130825338C>A	ENST00000509018.1	-	15	1946	c.1741G>T	c.(1741-1743)Gta>Tta	p.V581L	RAPGEF6_ENST00000296859.6_Missense_Mutation_p.V581L|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.V296L|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.V631L|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.V581L|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.V581L|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.V581L|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.V581L	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	581	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143, ECO:0000305}.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TGTCCATTTACTTCCATAATC	0.259																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(1741-1743)Gta>Tta		Rap guanine nucleotide exchange factor (GEF) 6							42	44	43					5																	130825338		2201	4291	6492	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130825338C>A	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"PDZ domain containing guanine nucleotide exchange factor (GEF) 2"	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.1741G>T	5.37:g.130825338C>A	ENSP00000421684:p.Val581Leu					RAPGEF6_ENST00000307984.5_Missense_Mutation_p.V581L|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.V296L|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.V581L|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.V581L|FNIP1_ENST00000514667.1_Missense_Mutation_p.V631L|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.V581L|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.V581L	p.V581L	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	15	1946	-			581			PDZ.		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.1741G>T	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353524	0.82243	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18	5.93	5.93	0.95920	PDZ/DHR/GLGF (4);Ras guanine nucleotide exchange factor, domain (1);	0.069079	0.64402	D	0.000019	T	0.49643	0.1569	L	0.47190	1.495	0.80722	D	1	P;P;P;P;P;P;P	0.50272	0.933;0.933;0.918;0.835;0.933;0.918;0.87	P;P;P;P;P;P;P	0.53102	0.718;0.718;0.596;0.612;0.718;0.596;0.718	T	0.44298	-0.9337	10	0.87932	D	0	.	20.3368	0.98748	0.0:1.0:0.0:0.0	.	581;581;581;296;631;581;581	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	L	581;581;581;581;581;296;581;581;631	ENSP00000421684:V581L;ENSP00000309298:V581L;ENSP00000426081:V581L;ENSP00000296859:V581L;ENSP00000426910:V296L;ENSP00000311419:V581L;ENSP00000425389:V581L;ENSP00000426948:V631L	ENSP00000426948:V631L	V	-	1	0	RAPGEF6;FNIP1	130853237	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	2.969000	0.49232	2.805000	0.96524	0.655000	0.94253	GTA		0.259	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		3	34	1	0	0.115264	0.115264	0.123123	3	34					A	130825338	C	A	130825338	3	1	34	1	0	0	0	0	1	0	0	0	13048	565	20	4	3606	4	RAPGEF6	5	130825338	Missense_Mutation	SNP	C	TCGA-BJ-A3PT-01A-12D-A21Z-08		130825338	50089922	9	924											
PCDHGB4	8641	broad.mit.edu	37	chr5	140768722	140768722	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tataaccgttacggcaacagAtcggggcaagcctcccctct	9	14	1	1			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr5:140768722A>G	ENST00000519479.1	+	1	1271	c.1271A>G	c.(1270-1272)gAt>gGt	p.D424G	PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	424	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGCAACAGATCGGGGCAAG	0.448																																						ENST00000519479.1																			0				endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37						c.(1270-1272)gAt>gGt									120	126	124					5																	140768722		1954	4154	6108	SO:0001583	missense	0							g.chr5:140768722A>G	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"Cadherins / Protocadherins : Clustered"	8711	other	protocadherin	"fibroblast cadherin FIB2", "cadherin 20"	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1271A>G	5.37:g.140768722A>G	ENSP00000428288:p.Asp424Gly					PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron	p.D424G	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1271	+								O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	c.1271A>G	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	14.92	2.680233	0.47886	.	.	ENSG00000253953	ENST00000519479	T	0.68765	-0.35	5.14	5.14	0.70334	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.90669	0.7073	H	0.99884	4.89	0.35060	D	0.761495	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97373	0.9977	9	0.87932	D	0	.	15.0172	0.71594	1.0:0.0:0.0:0.0	.	424;424	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	G	424	ENSP00000428288:D424G	ENSP00000428288:D424G	D	+	2	0	PCDHGB4	140748906	1.000000	0.71417	0.064000	0.19789	0.032000	0.12392	8.808000	0.91939	2.078000	0.62432	0.529000	0.55759	GAT		0.448	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		7	191	0	0	0	0.27861	0	7	191					G	140768722	A	G	140768722	3	3	34	1	0	0	0	0	1	0	0	0	11565	333	12	3	1273	3	PCDHGB4	5	140768722	Missense_Mutation	SNP	A	TCGA-BJ-A3PT-01A-12D-A21Z-08	9943384	140768722	40146538	10	925											
GEMIN5	25929	broad.mit.edu	37	chr5	154315560	154315560	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtcctttactcgaggagacCaatgtaatgttgatatcgta	9	7	0	2			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr5:154315560C>A	ENST00000285873.7	-	3	425	c.350G>T	c.(349-351)tGg>tTg	p.W117L		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	117					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCGAGGAGACCAATGTAATGT	0.328																																						ENST00000285873.7																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(349-351)tGg>tTg		gem (nuclear organelle) associated protein 5							74	69	71					5																	154315560		2203	4300	6503	SO:0001583	missense	25929				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	g.chr5:154315560C>A	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"WD repeat domain containing"	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.350G>T	5.37:g.154315560C>A	ENSP00000285873:p.Trp117Leu						p.W117L	NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		3	425	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	117					Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	ENST00000285873.7	37	c.350G>T	CCDS4330.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.856694	0.91433	.	.	ENSG00000082516	ENST00000285873	T	0.67171	-0.25	5.77	5.77	0.91146	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	0.83202	0.5203	M	0.79475	2.455	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	D	0.84175	0.0436	10	0.72032	D	0.01	-9.5783	19.9983	0.97395	0.0:1.0:0.0:0.0	.	117;117	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	L	117	ENSP00000285873:W117L	ENSP00000285873:W117L	W	-	2	0	GEMIN5	154295753	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.231000	0.78106	2.724000	0.93272	0.561000	0.74099	TGG		0.328	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			8	41	1	0	0.0581538	0.335167	0.0650768	8	41					A	154315560	C	A	154315560	3	1	34	1	0	0	0	0	1	0	0	0	6331	595	21	4	4280	4	GEMIN5	5	154315560	Missense_Mutation	SNP	C	TCGA-BJ-A3PT-01A-12D-A21Z-08	13546838	154315560	26599700	11	926											
E2F3	1871	broad.mit.edu	37	chr6	20402610	20402610	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttcgccgccgccgccgcCgctgccgccgccccgggcgc	15	23	0	0			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr6:20402610C>T	ENST00000346618.3	+	1	213	c.147C>T	c.(145-147)gcC>gcT	p.A49A	E2F3_ENST00000535432.1_5'Flank	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	49	Poly-Ala.				mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			ccgccgccgccgctgccgccg	0.741																																						ENST00000346618.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(145-147)gcC>gcT		E2F transcription factor 3							14	21	18					6																	20402610		2127	4171	6298	SO:0001819	synonymous_variant	1871				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:20402610C>T	Y10479	CCDS4545.1, CCDS58999.1	6p22	2008-08-29			ENSG00000112242	ENSG00000112242			3115	protein-coding gene	gene with protein product		600427				8246996	Standard	NM_001949		Approved		uc003nda.2	O00716	OTTHUMG00000016389	ENST00000346618.3:c.147C>T	6.37:g.20402610C>T							p.A49A	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)		1	213	+	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		49			Poly-Ala.		Q15000|Q68DT0|Q9BZ44	Silent	SNP	ENST00000346618.3	37	c.147C>T	CCDS4545.1																																																																																				0.741	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043828.1			3	75	0	0	0	0.115264	0	3	75					T	20402610	C	T	20402610	2	4	34	1	0	0	0	0	0	0	0	1	4868	639	23	1		1	E2F3	6	20402610	Silent	SNP	C	TCGA-BJ-A3PT-01A-12D-A21Z-08		20402610	150712457	12	927											
DIRAS2	54769	broad.mit.edu	37	chr9	93375575	93375575	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgcttgctctttttcccgtCgatctggagactcacggtcc	9	14	3	1			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr9:93375575C>A	ENST00000375765.3	-	2	923	c.535G>T	c.(535-537)Gac>Tac	p.D179Y		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	179					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.D179N(1)		kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						TTTTTCCCGTCGATCTGGAGA	0.547																																						ENST00000375765.3																			1	Substitution - Missense(1)	p.D179N(1)	skin(1)	kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						c.(535-537)Gac>Tac		DIRAS family, GTP-binding RAS-like 2							166	149	155					9																	93375575		2203	4300	6503	SO:0001583	missense	0				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	g.chr9:93375575C>A	AB076889	CCDS6687.1	9q22.32	2014-05-09			ENSG00000165023	ENSG00000165023			19323	protein-coding gene	gene with protein product		607863				12194967	Standard	NM_017594		Approved	Di-Ras2, DKFZp761C07121	uc004aqx.1	Q96HU8	OTTHUMG00000020196	ENST00000375765.3:c.535G>T	9.37:g.93375575C>A	ENSP00000364919:p.Asp179Tyr						p.D179Y	NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN			2	923	-			179					B3KVM2	Missense_Mutation	SNP	ENST00000375765.3	37	c.535G>T	CCDS6687.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277498	0.80580	.	.	ENSG00000165023	ENST00000375765	T	0.70164	-0.46	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.69033	0.3066	L	0.29908	0.895	0.80722	D	1	D	0.57257	0.979	P	0.55303	0.773	T	0.70521	-0.4849	10	0.54805	T	0.06	.	18.3183	0.90229	0.0:1.0:0.0:0.0	.	179	Q96HU8	DIRA2_HUMAN	Y	179	ENSP00000364919:D179Y	ENSP00000364919:D179Y	D	-	1	0	DIRAS2	92415395	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.473000	0.81007	2.884000	0.98904	0.655000	0.94253	GAC		0.547	DIRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053012.1			3	58	1	0	0.115264	0.115264	0.123123	3	58					A	93375575	C	A	93375575	3	1	34	1	0	0	0	0	1	0	0	0	4531	884	31	4	68	4	DIRAS2	9	93375575	Missense_Mutation	SNP	C	TCGA-BJ-A3PT-01A-12D-A21Z-08		93375575	47837856	13	928											
PTCH1	5727	broad.mit.edu	37	chr9	98229625	98229625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcccgaggtacaatgtccGtaaggtccagcccgtctctc	9	14	1	0			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr9:98229625G>A	ENST00000331920.6	-	15	2632	c.2333C>T	c.(2332-2334)aCg>aTg	p.T778M	PTCH1_ENST00000429896.2_Missense_Mutation_p.T627M|PTCH1_ENST00000437951.1_Missense_Mutation_p.T712M|PTCH1_ENST00000375274.2_Missense_Mutation_p.T777M|PTCH1_ENST00000421141.1_Missense_Mutation_p.T627M|PTCH1_ENST00000430669.2_Missense_Mutation_p.T712M|PTCH1_ENST00000418258.1_Missense_Mutation_p.T627M	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	778					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.T778M(2)|p.T777M(1)		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)				TACAATGTCCGTAAGGTCCAG	0.473																																						ENST00000430669.2																			3	Substitution - Missense(3)	p.T778M(2)|p.T777M(1)	large_intestine(3)	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	GRCh37	CI972684	PTCH1	I		c.(2134-2136)aCg>aTg		patched 1							103	103	103					9																	98229625		2203	4300	6503	SO:0001583	missense	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.chr9:98229625G>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.2333C>T	9.37:g.98229625G>A	ENSP00000332353:p.Thr778Met					PTCH1_ENST00000429896.2_Missense_Mutation_p.T627M|PTCH1_ENST00000421141.1_Missense_Mutation_p.T627M|PTCH1_ENST00000375274.2_Missense_Mutation_p.T777M|PTCH1_ENST00000418258.1_Missense_Mutation_p.T627M|PTCH1_ENST00000437951.1_Missense_Mutation_p.T712M|PTCH1_ENST00000331920.6_Missense_Mutation_p.T778M	p.T712M			Q13635	PTC1_HUMAN			15	2720	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	778					A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	c.2135C>T	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742987	0.89573	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000375275;ENST00000430669;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.90732	-2.72;-2.71;-2.7;-2.7;-2.71;-2.7;-2.72	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.94535	0.8240	M	0.71036	2.16	0.80722	D	1	D;D;D	0.69078	0.997;0.994;0.996	P;P;P	0.61592	0.891;0.803;0.883	D	0.94031	0.7301	10	0.52906	T	0.07	-14.1169	19.894	0.96945	0.0:0.0:1.0:0.0	.	712;777;778	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	M	778;712;627;627;214;712;627;777	ENSP00000332353:T778M;ENSP00000389744:T712M;ENSP00000399981:T627M;ENSP00000396135:T627M;ENSP00000410287:T712M;ENSP00000414823:T627M;ENSP00000364423:T777M	ENSP00000332353:T778M	T	-	2	0	PTCH1	97269446	1.000000	0.71417	0.970000	0.41538	0.973000	0.67179	9.476000	0.97823	2.700000	0.92200	0.591000	0.81541	ACG		0.473	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		4	152	0	0	0	0.150653	0	4	152					A	98229625	G	A	98229625	3	1	34	1	0	0	0	0	1	0	0	0	12730	1145	40	1	2046	1	PTCH1	9	98229625	Missense_Mutation	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08	4854050	98229625	42983806	14	929											
PSMB7	5695	broad.mit.edu	37	chr9	127177679	127177679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagaagcctccaactggtGgagcatacaccgacacagcc	10	13	0	1	rs143961480		TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr9:127177679G>A	ENST00000259457.3	-	1	39	c.26C>T	c.(25-27)cCa>cTa	p.P9L	PSMB7_ENST00000498485.1_5'Flank|PSMB7_ENST00000536392.1_Missense_Mutation_p.P9L	NM_002799.3	NP_002790.1	Q99436	PSB7_HUMAN	proteasome (prosome, macropain) subunit, beta type, 7	9					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 ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|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)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			breast(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)	5						TCCAACTGGTGGAGCATACAC	0.607											OREG0019476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000536392.1																			0				breast(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)	5						c.(25-27)cCa>cTa		proteasome (prosome, macropain) subunit, beta type, 7		G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	43	43	43		26	2.3	0.0	9	dbSNP_134	43	0,8600		0,0,4300	no	missense	PSMB7	NM_002799.2	98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	9/278	127177679	1,13005	2203	4300	6503	SO:0001583	missense	5695				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|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr9:127177679G>A	AJ420455	CCDS6855.1	9q34.11-q34.12	2008-02-05			ENSG00000136930	ENSG00000136930		"Proteasome (prosome, macropain) subunits"	9544	protein-coding gene	gene with protein product		604030				8811196	Standard	NM_002799		Approved	Z	uc004boj.4	Q99436	OTTHUMG00000021042	ENST00000259457.3:c.26C>T	9.37:g.127177679G>A	ENSP00000259457:p.Pro9Leu		OREG0019476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1555	PSMB7_ENST00000259457.3_Missense_Mutation_p.P9L	p.P9L			Q99436	PSB7_HUMAN			1	42	-			9					B4E0P1|Q5TBG6|Q96AG8|Q9BWA7	Missense_Mutation	SNP	ENST00000259457.3	37	c.26C>T	CCDS6855.1	.	.	.	.	.	.	.	.	.	.	G	9.026	0.986104	0.18889	2.27E-4	0.0	ENSG00000136930	ENST00000259457;ENST00000536392;ENST00000441097	T;T;T	0.32753	1.44;1.44;1.44	6.17	2.28	0.28536	.	0.692388	0.14648	N	0.306794	T	0.15912	0.0383	N	0.13168	0.305	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.30966	-0.9960	10	0.10377	T	0.69	-32.2283	10.5372	0.45011	0.0713:0.4231:0.5056:0.0	.	9;9	B4E0P1;Q99436	.;PSB7_HUMAN	L	9	ENSP00000259457:P9L;ENSP00000440247:P9L;ENSP00000393157:P9L	ENSP00000259457:P9L	P	-	2	0	PSMB7	126217500	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.406000	0.21032	0.165000	0.19558	-0.150000	0.13652	CCA		0.607	PSMB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055525.1	NM_002799		3	76	0	0	0	0.115264	0	3	76					A	127177679	G	A	127177679	3	1	34	1	0	0	0	0	1	0	0	0	12682	1348	47	2	839	2	PSMB7	9	127177679	Missense_Mutation	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08	28948054	127177679	14035752	15	930											
CELF2	10659	broad.mit.edu	37	chr10	11299727	11299727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagacagaaaattgttcataGgaatggtatcgaagaaatgt	10	3	1	3			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr10:11299727G>A	ENST00000379261.4	+	5	501	c.409G>A	c.(409-411)Gga>Aga	p.G137R	CELF2_ENST00000417956.2_Missense_Mutation_p.G113R|CELF2_ENST00000354897.3_Missense_Mutation_p.G113R|CELF2_ENST00000609692.1_Missense_Mutation_p.G113R|CELF2_ENST00000450189.1_Missense_Mutation_p.G144R|CELF2_ENST00000315874.4_Missense_Mutation_p.G113R|CELF2_ENST00000427450.1_Missense_Mutation_p.G113R|CELF2_ENST00000399850.3_Missense_Mutation_p.G113R|CELF2_ENST00000542579.1_Missense_Mutation_p.G144R|CELF2_ENST00000416382.2_Missense_Mutation_p.G137R|CELF2_ENST00000537122.1_Missense_Mutation_p.G26R|CELF2_ENST00000608830.1_Missense_Mutation_p.G113R|CELF2_ENST00000354440.2_Missense_Mutation_p.G113R	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	137	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						ATTGTTCATAGGAATGGTATC	0.418																																						ENST00000379261.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						c.(409-411)Gga>Aga		CUGBP, Elav-like family member 2							88	89	88					10																	11299727		1931	4141	6072	SO:0001583	missense	10659				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr10:11299727G>A	U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"RNA binding motif (RRM) containing"	2550	protein-coding gene	gene with protein product		602538	"CUG triplet repeat, RNA-binding protein 2", "CUG triplet repeat, RNA binding protein 2"	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.409G>A	10.37:g.11299727G>A	ENSP00000368563:p.Gly137Arg					CELF2_ENST00000537122.1_Missense_Mutation_p.G26R|CELF2_ENST00000354440.2_Missense_Mutation_p.G113R|CELF2_ENST00000427450.1_Missense_Mutation_p.G113R|CELF2_ENST00000450189.1_Missense_Mutation_p.G144R|CELF2_ENST00000354897.3_Missense_Mutation_p.G113R|CELF2_ENST00000416382.2_Missense_Mutation_p.G137R|CELF2_ENST00000399850.3_Missense_Mutation_p.G113R|CELF2_ENST00000315874.3_Missense_Mutation_p.G113R|CELF2_ENST00000542579.1_Missense_Mutation_p.G144R|CELF2_ENST00000417956.2_Missense_Mutation_p.G113R	p.G137R	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN			5	501	+			137			Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2.		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Missense_Mutation	SNP	ENST00000379261.4	37	c.409G>A	CCDS44354.1	.	.	.	.	.	.	.	.	.	.	G	30	5.057691	0.93846	.	.	ENSG00000048740	ENST00000379261;ENST00000416382;ENST00000450189;ENST00000542579;ENST00000399850;ENST00000417956;ENST00000315874;ENST00000354440;ENST00000354897;ENST00000427450;ENST00000537122	T;T;T;T;T;T;T;T;T;T	0.10573	2.86;2.86;2.86;2.86;2.86;2.86;2.86;2.86;2.86;2.86	5.49	5.49	0.81192	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.35595	0.0937	M	0.73372	2.23	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	T	0.05354	-1.0890	10	0.87932	D	0	-7.3231	19.3698	0.94480	0.0:0.0:1.0:0.0	.	121;137;132;144;132;137	B4DDE7;B4DS31;B2RA86;E9PC62;O95319-3;O95319	.;.;.;.;.;CELF2_HUMAN	R	137;137;144;144;113;113;113;113;113;113;26	ENSP00000368563:G137R;ENSP00000406451:G137R;ENSP00000389951:G144R;ENSP00000443926:G144R;ENSP00000382743:G113R;ENSP00000404834:G113R;ENSP00000315328:G113R;ENSP00000346426:G113R;ENSP00000388530:G113R;ENSP00000438884:G26R	ENSP00000315328:G113R	G	+	1	0	CELF2	11339733	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.745000	0.98856	2.555000	0.86185	0.655000	0.94253	GGA		0.418	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding				10	72	0	0	0	0.38729	0	10	72					A	11299727	G	A	11299727	3	1	34	1	0	0	0	0	1	0	0	0	3216	1001	35	2	505	2	CELF2	10	11299727	Missense_Mutation	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08		11299727	124235020	16	931											
DGKZ	8525	broad.mit.edu	37	chr11	46387931	46387933	+	In_Frame_Del	DEL	CCT	CCT	-													tcgctcccccgctgggcaggCctcctcctcactggcacagc							TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr11:46387931_46387933delCCT	ENST00000454345.1	+	2	250_252	c.125_127delCCT	c.(124-129)gcctcc>gcc	p.S45del	DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000527911.1_Intron|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000532868.2_Intron|DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000395574.3_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	45					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GCTGGGCAGGCCTCCTCCTCACT	0.759																																						ENST00000454345.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25						c.(124-129)gcc>g		diacylglycerol kinase, zeta			,,,,,,	7,3395		2,3,1696					,,,,,,	3.4	1.0			6	41,7245		7,27,3609	no	intron,intron,intron,intron,intron,intron,coding	DGKZ	NM_201533.3,NM_201532.2,NM_003646.3,NM_001199268.1,NM_001199267.1,NM_001199266.1,NM_001105540.1	,,,,,,	9,30,5305	A1A1,A1R,RR		0.5627,0.2058,0.4491	,,,,,,	,,,,,,		48,10640				SO:0001651	inframe_deletion	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46387931_46387933delCCT	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"diacylglycerol kinase, zeta 104kDa"			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.125_127delCCT	11.37:g.46387937_46387939delCCT	ENSP00000412178:p.Ser45del					DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000527911.1_Intron|DGKZ_ENST00000395574.3_Intron|DGKZ_ENST00000532868.2_Intron	p.AS42del	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	2	250_252	+			42					B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	In_Frame_Del	DEL	ENST00000454345.1	37	c.125_127delCCT	CCDS41640.1																																																																																				0.759	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		6	3						6	3	---	---	---	---	-	46387933	CCT	-	46387931	7	5	34	1	0	1	0	1	0	0	0	0	4474	739	26	0	571	0	DGKZ	11	46387931	In_Frame_Del	DEL	CCT	TCGA-BJ-A3PT-01A-12D-A21Z-08		46387931	88618585	17	932											
UBASH3B	84959	broad.mit.edu	37	chr11	122680513	122680513	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaaactggaatatggcaGctgacagatccaccaatcct	10	10	0	3			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr11:122680513G>A	ENST00000284273.5	+	14	2244	c.1869G>A	c.(1867-1869)caG>caA	p.Q623Q		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	623	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)		GAATATGGCAGCTGACAGATC	0.443																																						ENST00000284273.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26						c.(1867-1869)caG>caA		ubiquitin associated and SH3 domain containing B							82	83	83					11																	122680513		2202	4299	6501	SO:0001819	synonymous_variant	84959					cytoplasm|nucleus	protein tyrosine phosphatase activity	g.chr11:122680513G>A	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.1869G>A	11.37:g.122680513G>A							p.Q623Q	NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)	14	2244	+		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)	623			Protein tyrosine phosphatase (By similarity).		Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Silent	SNP	ENST00000284273.5	37	c.1869G>A	CCDS31694.1																																																																																				0.443	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873		3	110	0	0	0	0.150653	0	3	110					A	122680513	G	A	122680513	2	1	34	1	0	0	0	0	0	0	0	1	16837	962	34	2		2	UBASH3B	11	122680513	Silent	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08	76292582	122680513	12326003	18	933											
OR4K5	79317	broad.mit.edu	37	chr14	20389468	20389468	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcttcagctgcaatggcaAaggcattttctacgctggct	10	10	3	0			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr14:20389468A>C	ENST00000315915.4	+	1	728	c.703A>C	c.(703-705)Aag>Cag	p.K235Q		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGCAATGGCAAAGGCATTTTC	0.418																																						ENST00000315915.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(703-705)Aag>Cag		olfactory receptor, family 4, subfamily K, member 5							258	271	267					14																	20389468		2203	4300	6503	SO:0001583	missense	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389468A>C	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"GPCR / Class A : Olfactory receptors"	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.703A>C	14.37:g.20389468A>C	ENSP00000319511:p.Lys235Gln						p.K235Q	NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	728	+	all_cancers(95;0.00108)		235					Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	c.703A>C	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	11.23	1.577984	0.28180	.	.	ENSG00000176281	ENST00000315915	T	0.00372	7.73	4.52	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	0.117100	0.37393	N	0.002107	T	0.01976	0.0062	H	0.99732	4.735	0.22610	N	0.998935	D	0.89917	1.0	D	0.79108	0.992	T	0.35919	-0.9769	10	0.87932	D	0	.	8.3313	0.32189	0.9041:0.0:0.0959:0.0	.	235	Q8NGD3	OR4K5_HUMAN	Q	235	ENSP00000319511:K235Q	ENSP00000319511:K235Q	K	+	1	0	OR4K5	19459308	1.000000	0.71417	0.024000	0.17045	0.005000	0.04900	6.139000	0.71728	0.760000	0.33108	-0.253000	0.11424	AAG		0.418	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		21	541	0	0	0	0.608945	0	21	541					C	20389468	A	C	20389468	3	2	34	1	0	0	0	0	1	0	0	0	11073	15	1	5	705	5	OR4K5	14	20389468	Missense_Mutation	SNP	A	TCGA-BJ-A3PT-01A-12D-A21Z-08		20389468	86960072	19	934											
MCTP2	55784	broad.mit.edu	37	chr15	94858758	94858758	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccttctccatctgtgcagGtaccgggggaagccagtgat	13	11	2	1			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr15:94858758G>A	ENST00000357742.4	+	3	529	c.529G>A	c.(529-531)Gta>Ata	p.V177I	MCTP2_ENST00000543482.1_Splice_Site_p.V177I|MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000451018.3_Splice_Site_p.V177I	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	177					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			ATCTGTGCAGGTACCGGGGGA	0.512																																						ENST00000357742.4																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49						c.e3-1		multiple C2 domains, transmembrane 2							90	73	79					15																	94858758		2197	4298	6495	SO:0001630	splice_region_variant	55784				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr15:94858758G>A	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.529-1G>A	15.37:g.94858758G>A						MCTP2_ENST00000543482.1_Splice_Site_p.V177_splice|MCTP2_ENST00000451018.3_Splice_Site_p.V177_splice|MCTP2_ENST00000331706.4_5'UTR	p.V177_splice	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		3	529	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		177					A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Splice_Site	SNP	ENST00000357742.4	37	c.528_splice	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	G	0.970	-0.700359	0.03279	.	.	ENSG00000140563	ENST00000543482;ENST00000556363;ENST00000451018;ENST00000357742	T;T;T	0.69806	-0.43;-0.21;-0.06	6.07	-0.562	0.11781	C2 calcium/lipid-binding domain, CaLB (1);	1.003210	0.08035	N	0.994205	T	0.43277	0.1240	N	0.08118	0	0.80722	D	1	B;B;B;B;B	0.12013	0.002;0.0;0.0;0.001;0.005	B;B;B;B;B	0.04013	0.0;0.0;0.0;0.0;0.001	T	0.14615	-1.0466	9	.	.	.	.	10.6672	0.45736	0.5048:0.0:0.4952:0.0	.	177;177;177;177;177	F5H415;Q6DN12-2;Q6DN12;B7Z6H2;G3V2J2	.;.;MCTP2_HUMAN;.;.	I	177	ENSP00000438521:V177I;ENSP00000395109:V177I;ENSP00000350377:V177I	.	V	+	1	0	MCTP2	92659762	0.001000	0.12720	0.028000	0.17463	0.042000	0.13812	-0.286000	0.08399	-0.285000	0.09089	-0.290000	0.09829	GTA		0.512	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349	Missense_Mutation	3	39	0	0	0	0.150653	0	3	39					A	94858758	G	A	94858758	5	1	34	1	0	0	0	0	0	0	1	0	9401	1275	44	2	539	2	MCTP2	15	94858758	Splice_Site	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08		94858758	7672634	20	935											
QPRT	23475	broad.mit.edu	37	chr16	29708392	29708392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcagcctgcaggaggccGtgcaggcagctgaggctggt	18	11	0	1	rs147793931	byFrequency	TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr16:29708392G>A	ENST00000395384.4	+	3	786	c.625G>A	c.(625-627)Gtg>Atg	p.V209M	QPRT_ENST00000562473.1_Missense_Mutation_p.V61M|QPRT_ENST00000219771.7_3'UTR	NM_014298.3	NP_055113.2	Q15274	NADC_HUMAN	quinolinate phosphoribosyltransferase	209					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|protein oligomerization (GO:0051259)|quinolinate catabolic process (GO:0034213)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					Niacin(DB00627)	GCAGGAGGCCGTGCAGGCAGC	0.657																																						ENST00000395384.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9						c.(625-627)Gtg>Atg		quinolinate phosphoribosyltransferase	Niacin(DB00627)	G	MET/VAL	1,4393		0,1,2196	26	24	24		625	-6.6	0.0	16	dbSNP_134	24	2,8598		0,2,4298	yes	missense	QPRT	NM_014298.3	21	0,3,6494	AA,AG,GG		0.0233,0.0228,0.0231	possibly-damaging	209/298	29708392	3,12991	2197	4300	6497	SO:0001583	missense	23475				protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process	cytosol	nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity	g.chr16:29708392G>A	D78177	CCDS10651.1	16p11.2	2008-07-31	2008-07-31		ENSG00000103485	ENSG00000103485	2.4.2.19		9755	protein-coding gene	gene with protein product	"nicotinate-nucleotide pyrophosphorylase (carboxylating)"	606248				9473669	Standard	NM_014298		Approved	QPRTase	uc002dto.3	Q15274	OTTHUMG00000097770	ENST00000395384.4:c.625G>A	16.37:g.29708392G>A	ENSP00000378782:p.Val209Met					QPRT_ENST00000219771.7_3'UTR|QPRT_ENST00000562473.1_Missense_Mutation_p.V61M	p.V209M	NM_014298.3	NP_055113.2	Q15274	NADC_HUMAN			3	786	+			209					Q53XW7|Q96G22|Q9BSG6	Missense_Mutation	SNP	ENST00000395384.4	37	c.625G>A	CCDS10651.1	.	.	.	.	.	.	.	.	.	.	.	9.382	1.073194	0.20147	2.28E-4	2.33E-4	ENSG00000103485	ENST00000219771;ENST00000395384	T	0.30714	1.52	4.97	-6.57	0.01842	Aldolase-type TIM barrel (1);Quinolinate phosphoribosyl transferase, C-terminal (2);	1.175030	0.06391	N	0.717076	T	0.21103	0.0508	L	0.49350	1.555	0.09310	N	1	B	0.25563	0.129	B	0.20767	0.031	T	0.35500	-0.9786	10	0.44086	T	0.13	-19.2333	4.0328	0.09716	0.0796:0.3559:0.151:0.4134	.	209	Q15274	NADC_HUMAN	M	64;209	ENSP00000378782:V209M	ENSP00000219771:V64M	V	+	1	0	QPRT	29615893	0.000000	0.05858	0.000000	0.03702	0.549000	0.35272	-1.062000	0.03468	-0.707000	0.05022	0.491000	0.48974	GTG		0.657	QPRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215011.2	NM_014298		3	31	0	0	0	0.150653	0	3	31					A	29708392	G	A	29708392	3	1	34	1	0	0	0	0	1	0	0	0	12876	1145	40	1	635	1	QPRT	16	29708392	Missense_Mutation	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08		29708392	60646361	21	936											
KIAA0895L	653319	broad.mit.edu	37	chr16	67211930	67211930	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccttgcccagtgaggtcaGcaacgggaaatcgatggtct	12	11	2	1			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr16:67211930G>A	ENST00000290881.7	-	7	2160	c.1234C>T	c.(1234-1236)Ctg>Ttg	p.L412L	KIAA0895L_ENST00000563902.1_Silent_p.L412L|KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000561621.1_Silent_p.C408C			Q68EN5	K895L_HUMAN	KIAA0895-like	412										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						AGTGAGGTCAGCAACGGGAAA	0.607																																						ENST00000290881.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						c.(1234-1236)Ctg>Ttg		KIAA0895-like							53	51	51					16																	67211930		2006	4184	6190	SO:0001819	synonymous_variant	653319							g.chr16:67211930G>A	AK092303	CCDS42177.1	16q22.1	2008-11-27				ENSG00000196123			34408	protein-coding gene	gene with protein product							Standard	NM_001040715		Approved	LOC653319	uc002ert.3	Q68EN5		ENST00000290881.7:c.1234C>T	16.37:g.67211930G>A						KIAA0895L_ENST00000561621.1_Silent_p.C408C|KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000561679.1_Silent_p.L257L|KIAA0895L_ENST00000563902.1_Silent_p.L412L	p.L412L			Q68EN5	K895L_HUMAN			7	2160	-			412					A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Silent	SNP	ENST00000290881.7	37	c.1234C>T	CCDS42177.1																																																																																				0.607	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421193.4	NM_001040715		3	88	0	0	0	0.115264	0	3	88					A	67211930	G	A	67211930	2	1	34	1	0	0	0	0	0	0	0	1	8198	962	34	2		2	KIAA0895L	16	67211930	Silent	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08	37503538	67211930	23142823	22	937											
SLC12A4	6560	broad.mit.edu	37	chr16	67979074	67979074	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgggagcgcgtgacaatgaCttcattgagcttcacagcag	13	9	2	3			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr16:67979074C>A	ENST00000316341.3	-	23	3222	c.3082G>T	c.(3082-3084)Gtc>Ttc	p.V1028F	SLC12A4_ENST00000338335.3_3'UTR|SLC12A4_ENST00000572037.1_Missense_Mutation_p.V980F|CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000537830.2_Missense_Mutation_p.V1022F|SLC12A4_ENST00000541864.2_Missense_Mutation_p.V997F|SLC12A4_ENST00000422611.2_Missense_Mutation_p.V1030F|LCAT_ENST00000264005.5_5'Flank|SLC12A4_ENST00000576616.1_Missense_Mutation_p.V1028F	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	1028					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTGACAATGACTTCATTGAGC	0.577																																						ENST00000422611.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(3088-3090)Gtc>Ttc		solute carrier family 12 (potassium/chloride transporter), member 4	Bumetanide(DB00887)|Potassium Chloride(DB00761)						139	127	131					16																	67979074		2198	4300	6498	SO:0001583	missense	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67979074C>A		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"Solute carriers"	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.3082G>T	16.37:g.67979074C>A	ENSP00000318557:p.Val1028Phe					SLC12A4_ENST00000572037.1_Missense_Mutation_p.V980F|SLC12A4_ENST00000338335.3_3'UTR|SLC12A4_ENST00000537830.2_Missense_Mutation_p.V1022F|SLC12A4_ENST00000541864.2_Missense_Mutation_p.V997F|SLC12A4_ENST00000576616.1_Missense_Mutation_p.V1028F|SLC12A4_ENST00000316341.3_Missense_Mutation_p.V1028F	p.V1030F	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	22	3127	-		Ovarian(137;0.192)	1028					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	c.3088G>T	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	C	34	5.343899	0.95807	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000316341	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.85279	0.5660	M	0.90145	3.09	0.80722	D	1	D;P;D;P;D;P	0.63046	0.973;0.956;0.992;0.947;0.974;0.911	P;P;D;P;D;P	0.64042	0.73;0.714;0.921;0.805;0.913;0.643	D	0.87188	0.2232	10	0.87932	D	0	.	20.3593	0.98849	0.0:1.0:0.0:0.0	.	1030;1022;997;1022;1028;1028	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	F	1030;997;1022;1028	ENSP00000395983:V1030F;ENSP00000438334:V997F;ENSP00000445962:V1022F;ENSP00000318557:V1028F	ENSP00000318557:V1028F	V	-	1	0	SLC12A4	66536575	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.822000	0.97130	0.557000	0.71058	GTC		0.577	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		4	146	1	0	0.00116845	0.217242	0.00137292	4	146					A	67979074	C	A	67979074	3	1	34	1	0	0	0	0	1	0	0	0	14385	565	20	4	183	4	SLC12A4	16	67979074	Missense_Mutation	SNP	C	TCGA-BJ-A3PT-01A-12D-A21Z-08	767144	67979074	22375679	23	938											
KDM6B	23135	broad.mit.edu	37	chr17	7750709	7750709	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctccccggcaccaccaccaGcagcagcagtagcagcagca	9	19	0	0			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr17:7750709G>C	ENST00000448097.2	+	10	1527	c.1196G>C	c.(1195-1197)aGc>aCc	p.S399T	KDM6B_ENST00000254846.5_Missense_Mutation_p.S399T			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	399	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.S399T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						ACCACCACcagcagcagcagt	0.672																																						ENST00000254846.5																			1	Substitution - Missense(1)	p.S399T(1)	lung(1)	central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(1195-1197)aGc>aCc		lysine (K)-specific demethylase 6B							45	54	51					17																	7750709		2203	4300	6503	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7750709G>C	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.1196G>C	17.37:g.7750709G>C	ENSP00000412513:p.Ser399Thr					KDM6B_ENST00000448097.2_Missense_Mutation_p.S399T	p.S399T	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			10	1585	+			399			Pro-rich.		C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.1196G>C		.	.	.	.	.	.	.	.	.	.	G	4.000	-0.002662	0.07819	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.08458	3.09;3.09	2.79	0.726	0.18248	.	0.509864	0.16624	N	0.206341	T	0.03434	0.0099	N	0.08118	0	0.20196	N	0.999927	B	0.11235	0.004	B	0.13407	0.009	T	0.45205	-0.9277	10	0.05351	T	0.99	-5.8581	10.8708	0.46883	0.0:0.4056:0.5944:0.0	.	399	O15054-1	.	T	399	ENSP00000254846:S399T;ENSP00000412513:S399T	ENSP00000254846:S399T	S	+	2	0	KDM6B	7691434	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.396000	0.34531	0.250000	0.21479	-0.234000	0.12200	AGC		0.672	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		4	167	0	0	0	0.150653	0	4	167					C	7750709	G	C	7750709	3	2	34	1	0	0	0	0	1	0	0	0	8138	971	34	4	1222	4	KDM6B	17	7750709	Missense_Mutation	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08		7750709	73444501	24	939											
HOXB7	3217	broad.mit.edu	37	chr17	46685277	46685277	+	Frame_Shift_Del	DEL	T	T	-													ggcccgcggtcttgttctccTttttccacttcatgcgccgg							TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr17:46685277delT	ENST00000239165.7	-	2	679	c.581delA	c.(580-582)aagfs	p.K194fs	HOXB-AS3_ENST00000467155.2_RNA|HOXB6_ENST00000484302.2_5'Flank|HOXB-AS3_ENST00000491264.1_RNA|HOXB-AS3_ENST00000466037.2_RNA|HOXB-AS3_ENST00000494420.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB6_ENST00000225648.3_5'Flank|HOXB7_ENST00000567101.2_5'UTR	NM_004502.3	NP_004493.3	P09629	HXB7_HUMAN	homeobox B7	194				K -> N (in Ref. 7; AAB19469). {ECO:0000305}.	anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	8						CTTGTTCTCCTTTTTCCACTT	0.592																																						ENST00000239165.7																			0				NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	8						c.(580-582)agfs		homeobox B7							103	113	109					17																	46685277		2203	4300	6503	SO:0001589	frameshift_variant	3217					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46685277delT		CCDS11532.1	17q21.32	2013-05-22	2005-12-22					"Homeoboxes / ANTP class : HOXL subclass"	5118	protein-coding gene	gene with protein product		142962	"homeo box B7"	HOX2, HOX2C		1973146, 1358459	Standard	NM_004502		Approved		uc002inv.3	P09629	OTTHUMG00000170231	ENST00000239165.7:c.581delA	17.37:g.46685277delT	ENSP00000239165:p.Lys194fs					HOXB7_ENST00000567101.1_5'UTR	p.K194fs	NM_004502.3	NP_004493.3	P09629	HXB7_HUMAN			2	679	-			194	K -> N (in Ref. 7; AAB19469).				A8K3N8|Q15957|Q53FN3|Q96BQ6	Frame_Shift_Del	DEL	ENST00000239165.7	37	c.581delA	CCDS11532.1																																																																																				0.592	HOXB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358097.3			8	497						8	497	---	---	---	---	-	46685277	T	-	46685277	7	5	34	1	0	1	0	1	0	0	0	0	7306	1609	56	0	76	0	HOXB7	17	46685277	Frame_Shift_Del	DEL	T	TCGA-BJ-A3PT-01A-12D-A21Z-08	38934568	46685277	34509933	25	940											
GYS1	2997	broad.mit.edu	37	chr19	49488755	49488755	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtgctgtgcctcgatggcGgtgatctgggacacagtagt	15	8	1	1			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr19:49488755G>A	ENST00000323798.3	-	5	982	c.786C>T	c.(784-786)acC>acT	p.T262T	GYS1_ENST00000540532.1_Silent_p.T182T|GYS1_ENST00000541188.1_Silent_p.T182T|GYS1_ENST00000263276.6_Silent_p.T198T|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000457974.1_5'Flank	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	262					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CCTCGATGGCGGTGATCTGGG	0.582																																						ENST00000323798.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(784-786)acC>acT		glycogen synthase 1 (muscle)							127	96	107					19																	49488755		2203	4300	6503	SO:0001819	synonymous_variant	2997				glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding	g.chr19:49488755G>A		CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.786C>T	19.37:g.49488755G>A						GYS1_ENST00000540532.1_Silent_p.T182T|GYS1_ENST00000541188.1_Silent_p.T182T|GYS1_ENST00000263276.6_Silent_p.T198T|GYS1_ENST00000544287.1_Intron	p.T262T	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)	5	982	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	262					Q9BTT9	Silent	SNP	ENST00000323798.3	37	c.786C>T	CCDS12747.1																																																																																				0.582	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		3	74	0	0	0	0.115264	0	3	74					A	49488755	G	A	49488755	2	1	34	1	0	0	0	0	0	0	0	1	6912	1103	39	1		1	GYS1	19	49488755	Silent	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08		49488755	9640228	26	941											
XRN2	22803	broad.mit.edu	37	chr20	21346221	21346221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatggtcagaaagccagcaGcagtactgaaacctagtgac	10	9	1	3			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr20:21346221G>A	ENST00000377191.3	+	26	2430	c.2335G>A	c.(2335-2337)Gca>Aca	p.A779T	XRN2_ENST00000430571.2_Missense_Mutation_p.A703T|XRN2_ENST00000539513.1_Missense_Mutation_p.A725T	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	779					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						AAAGCCAGCAGCAGTACTGAA	0.438																																						ENST00000377191.3																			0				endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						c.(2335-2337)Gca>Aca		5'-3' exoribonuclease 2							96	95	96					20																	21346221		2203	4300	6503	SO:0001583	missense	22803				cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding	g.chr20:21346221G>A	AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.2335G>A	20.37:g.21346221G>A	ENSP00000366396:p.Ala779Thr					XRN2_ENST00000430571.2_Missense_Mutation_p.A703T|XRN2_ENST00000539513.1_Missense_Mutation_p.A725T	p.A779T	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN			26	2430	+			779					Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	ENST00000377191.3	37	c.2335G>A	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.569493	0.28003	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.18338	2.22;2.22;2.22	5.95	0.00139	0.14046	.	0.422063	0.29572	N	0.011779	T	0.05456	0.0144	N	0.02011	-0.69	0.19300	N	0.999978	B	0.02656	0.0	B	0.01281	0.0	T	0.40308	-0.9570	10	0.22706	T	0.39	-0.1946	9.8893	0.41281	0.3764:0.4698:0.1538:0.0	.	779	Q9H0D6	XRN2_HUMAN	T	779;703;725	ENSP00000366396:A779T;ENSP00000413548:A703T;ENSP00000441113:A725T	ENSP00000366396:A779T	A	+	1	0	XRN2	21294221	1.000000	0.71417	0.956000	0.39512	0.422000	0.31414	1.577000	0.36515	0.132000	0.18615	-0.768000	0.03414	GCA		0.438	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255		3	103	0	0	0	0.115264	0	3	103					A	21346221	G	A	21346221	3	1	34	1	0	0	0	0	1	0	0	0	17457	971	34	2	2437	2	XRN2	20	21346221	Missense_Mutation	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08		21346221	41679299	27	942											
CHEK2	11200	broad.mit.edu	37	chr22	29091787	29091787	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acaagaacttcaggcgccaaGtaggtgggggttccacataa	12	9	1	1			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr22:29091787G>C	ENST00000405598.1	-	12	1361	c.1170C>G	c.(1168-1170)taC>taG	p.Y390*	CHEK2_ENST00000328354.6_Nonsense_Mutation_p.Y390*|CHEK2_ENST00000382578.1_Nonsense_Mutation_p.Y299*|CHEK2_ENST00000382580.2_Nonsense_Mutation_p.Y433*|CHEK2_ENST00000348295.3_Nonsense_Mutation_p.Y361*|CHEK2_ENST00000544772.1_Nonsense_Mutation_p.Y169*|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Nonsense_Mutation_p.Y299*|CHEK2_ENST00000402731.1_Nonsense_Mutation_p.Y361*|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Nonsense_Mutation_p.Y390*			O96017	CHK2_HUMAN	checkpoint kinase 2	390	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CAGGCGCCAAGTAGGTGGGGG	0.423			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			0				central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(505-507)taC>taG	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							56	57	57					22																	29091787		2203	4300	6503	SO:0001587	stop_gained	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091787G>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"CHK2 (checkpoint, S.pombe) homolog", "CHK2 checkpoint homolog (S. pombe)"	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1170C>G	22.37:g.29091787G>C	ENSP00000386087:p.Tyr390*					CHEK2_ENST00000403642.1_Nonsense_Mutation_p.Y299*|CHEK2_ENST00000405598.1_Nonsense_Mutation_p.Y390*|CHEK2_ENST00000348295.3_Nonsense_Mutation_p.Y361*|CHEK2_ENST00000402731.1_Nonsense_Mutation_p.Y361*|CHEK2_ENST00000382580.2_Nonsense_Mutation_p.Y433*|CHEK2_ENST00000382578.1_Nonsense_Mutation_p.Y299*|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Nonsense_Mutation_p.Y390*|CHEK2_ENST00000404276.1_Nonsense_Mutation_p.Y390*	p.Y169*	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1943	-			390			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Nonsense_Mutation	SNP	ENST00000405598.1	37	c.507C>G	CCDS13843.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	48|48	14.325224|14.325224	0.99790|0.99790	.|.	.|.	ENSG00000183765|ENSG00000183765	ENST00000434810|ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	.|.	.|.	.|.	5.89|5.89	2.09|2.09	0.27110|0.27110	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.27027|.	0.0662|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.15809|.	-1.0424|.	4|.	.|0.02654	.|T	.|1	-30.0052|-30.0052	7.6633|7.6633	0.28415|0.28415	0.4602:0.0:0.5398:0.0|0.4602:0.0:0.5398:0.0	.|.	.|.	.|.	.|.	S|X	134|361;299;169;390;390;390;433;299;361	.|.	.|ENSP00000329178:Y390X	T|Y	-|-	2|3	0|2	CHEK2|CHEK2	27421787|27421787	0.999000|0.999000	0.42202|0.42202	0.797000|0.797000	0.32132|0.32132	0.912000|0.912000	0.54170|0.54170	0.561000|0.561000	0.23515|0.23515	0.499000|0.499000	0.27970|0.27970	0.650000|0.650000	0.86243|0.86243	ACT|TAC		0.423	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		8	95	0	0	0	0.335167	0	8	95					C	29091787	G	C	29091787	4	2	34	1	0	0	0	0	0	1	0	0	3335	1024	36	4	481	4	CHEK2	22	29091787	Nonsense_Mutation	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08		29091787	22212779	28	943											
FRMPD4	9758	broad.mit.edu	37	chrX	12734288	12734288	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggaacaagaagcccagatAacatacatagattcaaagca	9	8	1	3			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chrX:12734288A>G	ENST00000380682.1	+	15	2216	c.1710A>G	c.(1708-1710)atA>atG	p.I570M		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	570					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AAGCCCAGATAACATACATAG	0.468																																						ENST00000380682.1																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(1708-1710)atA>atG		FERM and PDZ domain containing 4							127	117	120					X																	12734288		2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12734288A>G	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.1710A>G	X.37:g.12734288A>G	ENSP00000370057:p.Ile570Met						p.I570M	NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN			15	2216	+			570					A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.1710A>G	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	A	11.12	1.546416	0.27652	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.26223	1.75	5.47	-1.94	0.07571	.	0.273852	0.41712	D	0.000827	T	0.14141	0.0342	L	0.36672	1.1	0.21950	N	0.999458	B;B	0.23540	0.017;0.087	B;B	0.14023	0.004;0.01	T	0.08806	-1.0704	10	0.44086	T	0.13	.	4.2688	0.10776	0.2865:0.4953:0.0989:0.1193	.	562;570	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	M	570;561;559	ENSP00000370057:I570M	ENSP00000304583:I559M	I	+	3	3	FRMPD4	12644209	0.914000	0.31030	0.773000	0.31616	0.996000	0.88848	0.196000	0.17176	-0.792000	0.04480	0.430000	0.28490	ATA		0.468	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		10	201	0	0	0	0.361761	0	10	201					G	12734288	A	G	12734288	3	3	34	1	0	0	0	0	1	0	0	0	6059	352	13	3	1768	3	FRMPD4	23	12734288	Missense_Mutation	SNP	A	TCGA-BJ-A3PT-01A-12D-A21Z-08		12734288	142536272	29	944											
HS6ST2	90161	broad.mit.edu	37	chrX	131762582	131762582	+	Frame_Shift_Del	DEL	A	A	-													tcataaactgatacctctgcAaaaaaaggtctttggcatag							TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chrX:131762582delA	ENST00000370836.2	-	4	1902	c.1487delT	c.(1486-1488)ttgfs	p.L496fs	HS6ST2_ENST00000521489.1_Frame_Shift_Del_p.L536fs|HS6ST2_ENST00000406696.3_Frame_Shift_Del_p.L222fs|HS6ST2_ENST00000370833.2_Frame_Shift_Del_p.L390fs	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	496					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					ATACCTCTGCAAAAAAAGGTC	0.453																																						ENST00000370836.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9						c.(1486-1488)tgfs		heparan sulfate 6-O-sulfotransferase 2							155	153	154					X																	131762582		1937	4110	6047	SO:0001589	frameshift_variant	90161					integral to membrane	sulfotransferase activity	g.chrX:131762582delA	AB067776	CCDS48169.1, CCDS48170.1	Xq26.2	2008-02-05			ENSG00000171004	ENSG00000171004		"Sulfotransferases, membrane-bound"	19133	protein-coding gene	gene with protein product		300545				10644753	Standard	NM_147175		Approved		uc011mvd.1	Q96MM7	OTTHUMG00000022430	ENST00000370836.2:c.1487delT	X.37:g.131762582delA	ENSP00000359873:p.Leu496fs					HS6ST2_ENST00000370837.1_Frame_Shift_Del_p.L350fs|HS6ST2_ENST00000406696.3_Frame_Shift_Del_p.L222fs|HS6ST2_ENST00000521489.1_Frame_Shift_Del_p.L536fs|HS6ST2_ENST00000370833.2_Frame_Shift_Del_p.L390fs	p.L496fs	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN			4	1902	-	Acute lymphoblastic leukemia(192;0.000127)		496					B9WRT4|B9WRT5|E9PDY5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	Frame_Shift_Del	DEL	ENST00000370836.2	37	c.1487delT	CCDS48169.1																																																																																				0.453	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058332.3	NM_147174		16	433						16	433	---	---	---	---	-	131762582	A	-	131762582	7	5	34	1	0	1	0	1	0	0	0	0	7371	131	5	0	334	0	HS6ST2	23	131762582	Frame_Shift_Del	DEL	A	TCGA-BJ-A3PT-01A-12D-A21Z-08	119028294	131762582	23507978	30	945											
PNCK	139728	broad.mit.edu	37	chrX	152936612	152936612	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctgaagagctcagggtcGctctcgtcgtagaagggggg	18	8	2	3			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chrX:152936612G>A	ENST00000370150.1	-	8	826	c.648C>T	c.(646-648)agC>agT	p.S216S	PNCK_ENST00000393831.2_Silent_p.S239S|PNCK_ENST00000340888.3_Silent_p.S216S|PNCK_ENST00000475172.1_5'Flank|PNCK_ENST00000370145.4_Silent_p.S233S|PNCK_ENST00000447676.2_Silent_p.S299S|PNCK_ENST00000370142.1_Silent_p.S239S			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	216	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTCAGGGTCGCTCTCGTCGT	0.602																																						ENST00000393831.2																			0				breast(2)|lung(3)|skin(1)	6						c.(715-717)agC>agT		pregnancy up-regulated nonubiquitous CaM kinase							61	60	60					X																	152936612		2203	4300	6503	SO:0001819	synonymous_variant	139728					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chrX:152936612G>A	BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"pregnancy upregulated non-ubiquitously expressed CaM kinase", "pregnancy up-regulated non-ubiquitously expressed CaM kinase"			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.648C>T	X.37:g.152936612G>A						PNCK_ENST00000447676.2_Silent_p.S299S|PNCK_ENST00000370150.1_Silent_p.S216S|PNCK_ENST00000340888.3_Silent_p.S216S|PNCK_ENST00000370142.1_Silent_p.S239S|PNCK_ENST00000370145.4_Silent_p.S233S	p.S239S	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN			8	1151	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		216			Protein kinase.		B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Silent	SNP	ENST00000370150.1	37	c.717C>T																																																																																					0.602	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452		51	124	0	0	0	0.870114	0	51	124					A	152936612	G	A	152936612	2	1	34	1	0	0	0	0	0	0	0	1	12145	1078	38	1		1	PNCK	23	152936612	Silent	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08	21174030	152936612	2333948	31	946											
FAM76A	199870	broad.mit.edu	37	chr1	28087061	28087062	+	Frame_Shift_Del	DEL	CA	CA	-													tttgtccaagagcaagaagtCagagaagtcaggagctataa							TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr1:28087061_28087062delCA	ENST00000373954.6	+	9	995_996	c.893_894delCA	c.(892-894)tcafs	p.S298fs	FAM76A_ENST00000419687.2_Frame_Shift_Del_p.S218fs|FAM76A_ENST00000234549.7_Frame_Shift_Del_p.S303fs|FAM76A_ENST00000010299.6_Frame_Shift_Del_p.S332fs|FAM76A_ENST00000373949.1_Frame_Shift_Del_p.S269fs	NM_001143912.1|NM_152660.2	NP_001137384.1|NP_689873.1	Q8TAV0	FA76A_HUMAN	family with sequence similarity 76, member A	298										endometrium(4)|kidney(2)|large_intestine(1)|lung(2)	9		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAAGAAGTCAGAGAAGTCAG	0.48																																						ENST00000373954.6																			0				endometrium(4)|kidney(2)|large_intestine(1)|lung(2)	9						c.(892-894)tfs		family with sequence similarity 76, member A																																				SO:0001589	frameshift_variant	199870							g.chr1:28087061_28087062delCA	AK098318	CCDS309.1, CCDS44092.1, CCDS44093.1, CCDS44094.1, CCDS44095.1	1p35.3	2008-02-05			ENSG00000009780	ENSG00000009780			28530	protein-coding gene	gene with protein product							Standard	NM_001143912		Approved	MGC34648	uc001bor.3	Q8TAV0	OTTHUMG00000003729	ENST00000373954.6:c.893_894delCA	1.37:g.28087061_28087062delCA	ENSP00000363065:p.Ser298fs					FAM76A_ENST00000010299.6_Frame_Shift_Del_p.S332fs|FAM76A_ENST00000419687.2_Frame_Shift_Del_p.S218fs|FAM76A_ENST00000373949.1_Frame_Shift_Del_p.S269fs|FAM76A_ENST00000234549.7_Frame_Shift_Del_p.S303fs	p.S298fs	NM_001143912.1|NM_152660.2	NP_001137384.1|NP_689873.1	Q8TAV0	FA76A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)	9	995_996	+		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)	298					B4DWT3|O95565|O95566|Q8N7J5	Frame_Shift_Del	DEL	ENST00000373954.6	37	c.893_894delCA	CCDS309.1																																																																																				0.48	FAM76A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000010514.3	NM_152660		19	17						19	17	---	---	---	---	-	28087062	CA	-	28087061	7	5	35	1	0	1	0	1	0	0	0	0	5624	838	29	0	1033	0	FAM76A	1	28087061	Frame_Shift_Del	DEL	CA	TCGA-BJ-A3PU-01A-11D-A21Z-08		28087061	221163560	1	947											
CSRNP3	80034	broad.mit.edu	37	chr2	166536026	166536026	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgtttgctgctcctcttcCgaaaatgatagcggtgtgcc	10	11	1	1			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr2:166536026C>T	ENST00000342316.4	+	5	1793	c.1521C>T	c.(1519-1521)tcC>tcT	p.S507S	CSRNP3_ENST00000314499.7_Silent_p.S507S|CSRNP3_ENST00000409420.1_Silent_p.S539S	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	507					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						GCTCCTCTTCCGAAAATGATA	0.512																																						ENST00000314499.7																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						c.(1519-1521)tcC>tcT		cysteine-serine-rich nuclear protein 3							89	75	80					2																	166536026		2203	4300	6503	SO:0001819	synonymous_variant	80034				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:166536026C>T	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30729	protein-coding gene	gene with protein product	"TGF beta induced apotosis protein 2", "protein phosphatase 1, regulatory subunit 73"		"family with sequence similarity 130, member A2"	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.1521C>T	2.37:g.166536026C>T						CSRNP3_ENST00000342316.4_Silent_p.S507S|CSRNP3_ENST00000409420.1_Silent_p.S539S	p.S507S	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN			7	1897	+			507					B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Silent	SNP	ENST00000342316.4	37	c.1521C>T	CCDS2225.1																																																																																				0.512	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969		16	37	0	0	0	1	0	16	37					T	166536026	C	T	166536026	2	4	35	1	0	0	0	0	0	0	0	1	3965	639	23	1		1	CSRNP3	2	166536026	Silent	SNP	C	TCGA-BJ-A3PU-01A-11D-A21Z-08		166536026	76663347	2	948											
SCAP	22937	broad.mit.edu	37	chr3	47470042	47470042	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tccggatctcctccaccagtTggaatgcccgggacaaaggt	11	13	1	0			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr3:47470042T>A	ENST00000265565.5	-	4	783	c.371A>T	c.(370-372)cAa>cTa	p.Q124L	SCAP_ENST00000441517.2_Intron|SCAP_ENST00000545718.1_Intron	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	124					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CTCCACCAGTTGGAATGCCCG	0.527																																					Pancreas(149;978 1908 29304 37806 46700)	ENST00000265565.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(370-372)cAa>cTa		SREBF chaperone							160	149	153					3																	47470042		2203	4300	6503	SO:0001583	missense	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47470042T>A	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"WD repeat domain containing"	30634	protein-coding gene	gene with protein product	"SREBP cleavage activating protein"	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.371A>T	3.37:g.47470042T>A	ENSP00000265565:p.Gln124Leu					SCAP_ENST00000545718.1_Intron|SCAP_ENST00000441517.2_Intron	p.Q124L	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	4	783	-			124					Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	37	c.371A>T	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	T	14.66	2.602794	0.46423	.	.	ENSG00000114650	ENST00000339815;ENST00000265565;ENST00000416847;ENST00000495603	T	0.80033	-1.33	5.81	5.81	0.92471	.	0.135790	0.53938	D	0.000058	T	0.70116	0.3187	N	0.25647	0.755	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.66400	-0.5933	10	0.51188	T	0.08	-19.5949	11.7752	0.51981	0.0:0.0:0.1468:0.8532	.	124	Q12770	SCAP_HUMAN	L	124	ENSP00000265565:Q124L	ENSP00000265565:Q124L	Q	-	2	0	SCAP	47445046	1.000000	0.71417	1.000000	0.80357	0.599000	0.36880	1.835000	0.39181	2.210000	0.71456	0.533000	0.62120	CAA		0.527	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		7	201	0	0	0	1	0	7	201					A	47470042	T	A	47470042	3	1	35	1	0	0	0	0	1	0	0	0	13877	1812	63	5	3548	5	SCAP	3	47470042	Missense_Mutation	SNP	T	TCGA-BJ-A3PU-01A-11D-A21Z-08		47470042	150552388	3	949											
TNIK	23043	broad.mit.edu	37	chr3	170802927	170802927	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgcggctgatgattcctcaTcctcttcatcttcatcagtg	7	13	6	2			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr3:170802927T>A	ENST00000436636.2	-	25	3322	c.2978A>T	c.(2977-2979)gAt>gTt	p.D993V	TNIK_ENST00000538048.1_Missense_Mutation_p.D945V|TNIK_ENST00000470834.1_Missense_Mutation_p.D956V|TNIK_ENST00000369326.5_Missense_Mutation_p.D971V|TNIK_ENST00000341852.6_Missense_Mutation_p.D909V|TNIK_ENST00000460047.1_Missense_Mutation_p.D930V|TNIK_ENST00000357327.5_Missense_Mutation_p.D964V|TNIK_ENST00000475336.1_Missense_Mutation_p.D901V|TNIK_ENST00000488470.1_Missense_Mutation_p.D938V|TNIK_ENST00000284483.8_Missense_Mutation_p.D985V	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	993	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TGATTCCTCATCCTCTTCATC	0.478																																						ENST00000436636.2																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62						c.(2977-2979)gAt>gTt		TRAF2 and NCK interacting kinase							62	63	62					3																	170802927		1905	4121	6026	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170802927T>A	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2978A>T	3.37:g.170802927T>A	ENSP00000399511:p.Asp993Val					TNIK_ENST00000470834.1_Missense_Mutation_p.D956V|TNIK_ENST00000460047.1_Missense_Mutation_p.D930V|TNIK_ENST00000284483.8_Missense_Mutation_p.D985V|TNIK_ENST00000369326.5_Missense_Mutation_p.D971V|TNIK_ENST00000538048.1_Missense_Mutation_p.D945V|TNIK_ENST00000488470.1_Missense_Mutation_p.D938V|TNIK_ENST00000341852.6_Missense_Mutation_p.D909V|TNIK_ENST00000357327.5_Missense_Mutation_p.D964V|TNIK_ENST00000475336.1_Missense_Mutation_p.D901V	p.D993V	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		25	3322	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		993			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.2978A>T	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	T	14.98	2.698264	0.48307	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.73575	-0.74;-0.73;-0.75;-0.76;-0.74;-0.76;-0.75;-0.76;-0.76;-0.75	5.37	5.37	0.77165	.	0.323692	0.32640	N	0.005822	T	0.71484	0.3345	N	0.08118	0	0.80722	D	1	P;P;P;P;P;D;P;D	0.65815	0.95;0.758;0.95;0.95;0.503;0.978;0.95;0.995	P;B;P;P;B;P;P;P	0.62184	0.698;0.425;0.698;0.698;0.198;0.836;0.698;0.899	T	0.76277	-0.3018	10	0.45353	T	0.12	.	15.5421	0.76062	0.0:0.0:0.0:1.0	.	901;956;930;909;985;964;938;993	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	V	993;971;945;909;985;901;964;930;938;956	ENSP00000399511:D993V;ENSP00000358332:D971V;ENSP00000443278:D945V;ENSP00000345352:D909V;ENSP00000284483:D985V;ENSP00000418156:D901V;ENSP00000349880:D964V;ENSP00000418916:D930V;ENSP00000418378:D938V;ENSP00000419990:D956V	ENSP00000284483:D985V	D	-	2	0	TNIK	172285621	1.000000	0.71417	0.997000	0.53966	0.302000	0.27658	7.421000	0.80204	2.254000	0.74563	0.460000	0.39030	GAT		0.478	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		5	18	0	0	0	1	0	5	18					A	170802927	T	A	170802927	3	1	35	1	0	0	0	0	1	0	0	0	16310	1435	50	5	1140	5	TNIK	3	170802927	Missense_Mutation	SNP	T	TCGA-BJ-A3PU-01A-11D-A21Z-08	123332885	170802927	27219503	4	950											
FGF5	2250	broad.mit.edu	37	chr4	81188003	81188003	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgtccttcctcctcctcCtcttcttcagccacctgatc	4	19	3	1			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr4:81188003C>T	ENST00000312465.7	+	1	251	c.25C>T	c.(25-27)Ctc>Ttc	p.L9F	FGF5_ENST00000456523.3_Missense_Mutation_p.L9F	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	9					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						CCTCCTCCTCCTCTTCTTCAG	0.627																																						ENST00000456523.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(25-27)Ctc>Ttc		fibroblast growth factor 5							41	45	43					4																	81188003		2202	4299	6501	SO:0001583	missense	2250				cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity	g.chr4:81188003C>T	M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"Endogenous ligands"	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.25C>T	4.37:g.81188003C>T	ENSP00000311697:p.Leu9Phe					FGF5_ENST00000312465.7_Missense_Mutation_p.L9F	p.L9F	NM_033143.2	NP_149134.1	P12034	FGF5_HUMAN			1	211	+			9					B2R554|O75846|Q3Y8M3|Q8NF90	Missense_Mutation	SNP	ENST00000312465.7	37	c.25C>T	CCDS34021.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.240743	0.58995	.	.	ENSG00000138675	ENST00000312465;ENST00000456523	T;T	0.11712	2.75;2.75	5.36	4.5	0.54988	.	0.504072	0.19266	N	0.118534	T	0.15825	0.0381	N	0.24115	0.695	0.25746	N	0.985108	D;P	0.63046	0.992;0.883	P;P	0.62298	0.9;0.459	T	0.04693	-1.0933	10	0.59425	D	0.04	.	8.6866	0.34240	0.1571:0.7677:0.0:0.0751	.	9;9	P12034-2;P12034	.;FGF5_HUMAN	F	9	ENSP00000311697:L9F;ENSP00000398353:L9F	ENSP00000311697:L9F	L	+	1	0	FGF5	81407027	0.990000	0.36364	0.997000	0.53966	0.872000	0.50106	0.465000	0.22004	1.436000	0.47453	0.561000	0.74099	CTC		0.627	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252627.2			3	91	0	0	0	1	0	3	91					T	81188003	C	T	81188003	3	4	35	1	0	0	0	0	1	0	0	0	5855	681	24	2	27	2	FGF5	4	81188003	Missense_Mutation	SNP	C	TCGA-BJ-A3PU-01A-11D-A21Z-08		81188003	109966273	5	951											
LIN54	132660	broad.mit.edu	37	chr4	83857237	83857237	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctttcctttccctatcttaGgcttaaaggcttctggattt	6	11	2	0			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr4:83857237G>C	ENST00000340417.3	-	11	2119	c.1742C>G	c.(1741-1743)cCt>cGt	p.P581R	LIN54_ENST00000505397.1_Missense_Mutation_p.P581R|LIN54_ENST00000510557.1_Missense_Mutation_p.P360R|LIN54_ENST00000442461.2_Missense_Mutation_p.P360R|LIN54_ENST00000506560.1_Missense_Mutation_p.P492R|LIN54_ENST00000395283.2_Missense_Mutation_p.P492R|LIN54_ENST00000446851.2_Missense_Mutation_p.P360R|LIN54_ENST00000395282.2_3'UTR	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component	581	CRC. {ECO:0000255|PROSITE- ProRule:PRU00971}.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				CCCTATCTTAGGCTTAAAGGC	0.378																																						ENST00000340417.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14						c.(1741-1743)cCt>cGt		lin-54 homolog (C. elegans)							160	142	148					4																	83857237		2203	4300	6503	SO:0001583	missense	132660				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr4:83857237G>C	BX537919	CCDS3599.1, CCDS47089.1, CCDS75157.1	4q21.22	2014-07-17	2014-07-17		ENSG00000189308	ENSG00000189308			25397	protein-coding gene	gene with protein product	"CXC domain containing 1"	613367	"lin-54 homolog (C. elegans)"			21498570	Standard	XM_005262749		Approved	MIP120, DKFZp686L1814, JC8.6, CXCDC1	uc003hnx.3	Q6MZP7	OTTHUMG00000130287	ENST00000340417.3:c.1742C>G	4.37:g.83857237G>C	ENSP00000341947:p.Pro581Arg					LIN54_ENST00000506560.1_Missense_Mutation_p.P492R|LIN54_ENST00000505397.1_Missense_Mutation_p.P581R|LIN54_ENST00000442461.2_Missense_Mutation_p.P360R|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000395283.2_Missense_Mutation_p.P492R|LIN54_ENST00000510557.1_Missense_Mutation_p.P360R|LIN54_ENST00000446851.2_Missense_Mutation_p.P360R	p.P581R	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN			11	2119	-		Hepatocellular(203;0.114)	581					Q32M68|Q32M69|Q6N071|Q76B60	Missense_Mutation	SNP	ENST00000340417.3	37	c.1742C>G	CCDS3599.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860215	0.71834	.	.	ENSG00000189308	ENST00000340417;ENST00000395283;ENST00000442461;ENST00000446851;ENST00000510557;ENST00000506560;ENST00000505397	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.83385	0.5243	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.998	D	0.85239	0.1037	9	0.87932	D	0	-16.2552	19.0569	0.93069	0.0:0.0:1.0:0.0	.	492;453;581	Q6MZP7-2;Q7Z3G2;Q6MZP7	.;.;LIN54_HUMAN	R	581;492;360;360;360;492;581	.	ENSP00000341947:P581R	P	-	2	0	LIN54	84076261	1.000000	0.71417	0.996000	0.52242	0.351000	0.29236	9.581000	0.98210	2.732000	0.93576	0.650000	0.86243	CCT		0.378	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252626.2	NM_194282		17	94	0	0	0	1	0	17	94					C	83857237	G	C	83857237	3	2	35	1	0	0	0	0	1	0	0	0	8809	1000	35	4	519	4	LIN54	4	83857237	Missense_Mutation	SNP	G	TCGA-BJ-A3PU-01A-11D-A21Z-08	2669234	83857237	107297039	6	952											
DMGDH	29958	broad.mit.edu	37	chr5	78322341	78322341	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcctggcctgcattcAtgatagcgtcatacagcgcc	8	16	2	1			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr5:78322341A>C	ENST00000255189.3	-	13	2124	c.2096T>G	c.(2095-2097)aTg>aGg	p.M699R	DMGDH_ENST00000380311.4_Missense_Mutation_p.M498R|DMGDH_ENST00000540686.1_Missense_Mutation_p.M319R	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	699					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GCCTGCATTCATGATAGCGTC	0.512																																						ENST00000255189.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(2095-2097)aTg>aGg		dimethylglycine dehydrogenase							106	96	99					5																	78322341		2203	4300	6503	SO:0001583	missense	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78322341A>C	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.2096T>G	5.37:g.78322341A>C	ENSP00000255189:p.Met699Arg					DMGDH_ENST00000380311.4_Missense_Mutation_p.M498R|DMGDH_ENST00000540686.1_Missense_Mutation_p.M319R	p.M699R	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	13	2124	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	699					B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	c.2096T>G	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.047714	0.75846	.	.	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000380311;ENST00000540686;ENST00000539598	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	5.52	5.52	0.82312	Glycine cleavage T-protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82811	0.5118	M	0.67953	2.075	0.80722	D	1	D;D;B;B	0.63880	0.993;0.973;0.168;0.202	P;P;B;B	0.61800	0.878;0.894;0.085;0.139	T	0.82214	-0.0568	10	0.36615	T	0.2	.	15.6338	0.76933	1.0:0.0:0.0:0.0	.	319;498;549;699	B4E1J9;F8W6P8;F5H1C7;Q9UI17	.;.;.;M2GD_HUMAN	R	699;538;498;319;549	ENSP00000255189:M699R;ENSP00000430972:M538R;ENSP00000369667:M498R;ENSP00000439478:M319R	ENSP00000255189:M699R	M	-	2	0	DMGDH	78358097	1.000000	0.71417	0.998000	0.56505	0.607000	0.37147	9.154000	0.94694	2.107000	0.64212	0.459000	0.35465	ATG		0.512	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		4	96	0	0	0	1	0	4	96					C	78322341	A	C	78322341	3	2	35	1	0	0	0	0	1	0	0	0	4581	217	8	5	520	5	DMGDH	5	78322341	Missense_Mutation	SNP	A	TCGA-BJ-A3PU-01A-11D-A21Z-08		78322341	102592919	7	953											
PCDHB6	56130	broad.mit.edu	37	chr5	140530372	140530372	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctccaaccctcacttccaCgttctcacccgcaatcgcag	5	19	2	0			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr5:140530372C>A	ENST00000231136.1	+	1	534	c.534C>A	c.(532-534)caC>caA	p.H178Q	PCDHB6_ENST00000543635.1_Missense_Mutation_p.H42Q	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	178	Cadherin 2. {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)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCACTTCCACGTTCTCACCC	0.547																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(532-534)caC>caA									142	150	147					5																	140530372		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140530372C>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.534C>A	5.37:g.140530372C>A	ENSP00000231136:p.His178Gln					PCDHB6_ENST00000543635.1_Missense_Mutation_p.H42Q	p.H178Q	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	534	+			178			Cadherin 2.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.534C>A	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.541479	0.27563	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.50277	0.75;0.75	4.7	-0.908	0.10517	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.52885	0.1762	L	0.39692	1.235	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.42120	-0.9470	9	0.66056	D	0.02	.	5.7518	0.18150	0.1253:0.4472:0.0:0.4275	.	178	Q9Y5E3	PCDB6_HUMAN	Q	42;178	ENSP00000438466:H42Q;ENSP00000231136:H178Q	ENSP00000231136:H178Q	H	+	3	2	PCDHB6	140510556	0.000000	0.05858	0.987000	0.45799	0.946000	0.59487	-1.909000	0.01586	-0.058000	0.13177	-0.254000	0.11334	CAC		0.547	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		12	357	1	0	0.000151284	1	0.000151284	12	357					A	140530372	C	A	140530372	3	1	35	1	0	0	0	0	1	0	0	0	11546	535	19	4	536	4	PCDHB6	5	140530372	Missense_Mutation	SNP	C	TCGA-BJ-A3PU-01A-11D-A21Z-08	62208031	140530372	40384888	8	954											
BAT2	7916	broad.mit.edu	37	chr6	31604005	31604005	+	Frame_Shift_Del	DEL	C	C	-													gatcacagcccctatacctaCcccccggcccagcccctccc							TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr6:31604005delC	ENST00000376033.2	+	26	5878	c.5644delC	c.(5644-5646)cccfs	p.P1883fs	PRRC2A_ENST00000376007.4_Frame_Shift_Del_p.P1883fs	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1883						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCTATACCTACCCCCCGGCCC	0.522																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(5644-5646)ccfs		proline-rich coiled-coil 2A							109	147	134					6																	31604005		1506	2709	4215	SO:0001589	frameshift_variant	7916					cytoplasm|nucleus	protein binding	g.chr6:31604005delC	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.5644delC	6.37:g.31604005delC	ENSP00000365201:p.Pro1883fs					PRRC2A_ENST00000376007.4_Frame_Shift_Del_p.P1883fs	p.P1883fs	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			26	5878	+			1883					B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Frame_Shift_Del	DEL	ENST00000376033.2	37	c.5644delC	CCDS4708.1																																																																																				0.522	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		7	524						7	524	---	---	---	---	-	31604005	C	-	31604005	7	5	35	1	0	1	0	1	0	0	0	0	1319	507	18	0	5742	0	BAT2	6	31604005	Frame_Shift_Del	DEL	C	TCGA-BJ-A3PU-01A-11D-A21Z-08		31604005	139511062	9	955											
GARS	2617	broad.mit.edu	37	chr7	30634596	30634596	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgccgctctgctgctgctgcTgccgccccggctcttagccc	11	20	2	0			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr7:30634596T>C	ENST00000389266.3	+	1	300	c.59T>C	c.(58-60)cTg>cCg	p.L20P	AC005154.6_ENST00000584372.1_RNA|AC005154.6_ENST00000581665.1_RNA|AC005154.6_ENST00000582549.1_RNA|AC005154.6_ENST00000578994.1_RNA|AC005154.6_ENST00000580440.1_RNA|AC005154.6_ENST00000584199.1_RNA|AC005154.6_ENST00000583664.1_RNA|AC005154.6_ENST00000579174.1_RNA	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	20					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	CTGCTGCTGCTGCCGCCCCGG	0.736																																						ENST00000389266.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24						c.(58-60)cTg>cCg		glycyl-tRNA synthetase	Glycine(DB00145)						6	8	8					7																	30634596		1989	4059	6048	SO:0001583	missense	2617				cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity	g.chr7:30634596T>C	AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"Aminoacyl tRNA synthetases / Class II"	4162	protein-coding gene	gene with protein product	"glycine tRNA ligase"	600287	"Charcot-Marie-Tooth neuropathy 2D"	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.59T>C	7.37:g.30634596T>C	ENSP00000373918:p.Leu20Pro						p.L20P	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN			1	300	+			20					B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	37	c.59T>C	CCDS43564.1	.	.	.	.	.	.	.	.	.	.	T	10.61	1.398555	0.25205	.	.	ENSG00000106105	ENST00000389266	D	0.82344	-1.6	3.38	-2.36	0.06663	.	1.088120	0.07005	N	0.824116	T	0.60741	0.2292	N	0.08118	0	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.42716	-0.9435	10	0.35671	T	0.21	2.9206	1.178	0.01839	0.175:0.3623:0.1795:0.2832	.	20	P41250	SYG_HUMAN	P	20	ENSP00000373918:L20P	ENSP00000373918:L20P	L	+	2	0	GARS	30601121	0.000000	0.05858	0.001000	0.08648	0.628000	0.37860	-1.571000	0.02138	-0.448000	0.07128	0.528000	0.53228	CTG		0.736	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		3	20	0	0	0	1	0	3	20					C	30634596	T	C	30634596	3	2	35	1	0	0	0	0	1	0	0	0	6242	1580	55	3	61	3	GARS	7	30634596	Missense_Mutation	SNP	T	TCGA-BJ-A3PU-01A-11D-A21Z-08		30634596	128504067	10	956											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		38	65	0	0	0	1	0	38	65					T	140453136	A	T	140453136	3	4	35	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A3PU-01A-11D-A21Z-08	109818540	140453136	18685527	11	957											
MYOM2	9172	broad.mit.edu	37	chr8	2040223	2040223	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcccgaaacaccaagacGtcggtggtggtgcagtggga	15	10	0	1	rs574414781		TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr8:2040223G>A	ENST00000262113.4	+	16	2019	c.1878G>A	c.(1876-1878)acG>acA	p.T626T	MYOM2_ENST00000523438.1_Silent_p.T51T	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	626	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ACACCAAGACGTCGGTGGTGG	0.572													G|||	1	0.000199681	0	0	5008	,	,		18763	0		0	False		,,,				2504	0.001					ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(1876-1878)acG>acA		myomesin 2							196	181	186					8																	2040223		2203	4300	6503	SO:0001819	synonymous_variant	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2040223G>A		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1878G>A	8.37:g.2040223G>A						MYOM2_ENST00000523438.1_Silent_p.T51T	p.T626T	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	16	2019	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	626			Fibronectin type-III 3.		Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	c.1878G>A	CCDS5957.1																																																																																				0.572	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		6	218	0	0	0	1	0	6	218					A	2040223	G	A	2040223	2	1	35	1	0	0	0	0	0	0	0	1	10092	1132	40	1		1	MYOM2	8	2040223	Silent	SNP	G	TCGA-BJ-A3PU-01A-11D-A21Z-08		2040223	144323799	12	958											
PSD3	23362	broad.mit.edu	37	chr8	18513180	18513180	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaagcttctcattcttgaTtgagttgtacagagcctgta	8	8	3	3			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr8:18513180T>C	ENST00000327040.8	-	10	2290	c.2188A>G	c.(2188-2190)Atc>Gtc	p.I730V	PSD3_ENST00000440756.2_Missense_Mutation_p.I732V|PSD3_ENST00000523619.1_Missense_Mutation_p.I665V|PSD3_ENST00000428502.2_Missense_Mutation_p.I59V|PSD3_ENST00000286485.8_Missense_Mutation_p.I196V	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	731	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TCATTCTTGATTGAGTTGTAC	0.373																																						ENST00000440756.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2194-2196)Atc>Gtc		pleckstrin and Sec7 domain containing 3							111	103	106					8																	18513180		2203	4300	6503	SO:0001583	missense	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18513180T>C	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"Pleckstrin homology (PH) domain containing"	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2188A>G	8.37:g.18513180T>C	ENSP00000324127:p.Ile730Val					PSD3_ENST00000286485.8_Missense_Mutation_p.I196V|PSD3_ENST00000428502.2_Missense_Mutation_p.I59V|PSD3_ENST00000327040.8_Missense_Mutation_p.I730V|PSD3_ENST00000523619.1_Missense_Mutation_p.I665V	p.I732V			Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	10	2296	-			731			SEC7.		A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	c.2194A>G	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	T	18.86	3.713769	0.68730	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000381690;ENST00000286485;ENST00000428502;ENST00000523619	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.52	5.52	0.82312	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.000000	0.52532	U	0.000079	T	0.75961	0.3921	M	0.65975	2.015	0.51012	D	0.9999	D;D;D;D	0.69078	0.994;0.995;0.997;0.992	D;D;D;D	0.79108	0.968;0.98;0.965;0.992	T	0.78623	-0.2132	10	0.87932	D	0	.	12.0105	0.53284	0.0:0.0:0.0:1.0	.	730;731;196;59	E9KL50;Q9NYI0;Q9NYI0-3;B4DKF8	.;PSD3_HUMAN;.;.	V	730;732;59;196;59;665	ENSP00000324127:I730V;ENSP00000401704:I732V;ENSP00000286485:I196V;ENSP00000430640:I665V	ENSP00000286485:I196V	I	-	1	0	PSD3	18557460	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	5.063000	0.64332	2.097000	0.63578	0.519000	0.50382	ATC		0.373	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		3	88	0	0	0	1	0	3	88					C	18513180	T	C	18513180	3	2	35	1	0	0	0	0	1	0	0	0	12648	1493	52	3	983	3	PSD3	8	18513180	Missense_Mutation	SNP	T	TCGA-BJ-A3PU-01A-11D-A21Z-08	16472957	18513180	127850842	13	959											
SPTAN1	6709	broad.mit.edu	37	chr9	131355261	131355261	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtgccccctctgtgcaGgacacgcataactaaggagg	12	12	1	0			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr9:131355261G>A	ENST00000372731.4	+	23	3265		c.e23-1		SPTAN1_ENST00000372739.3_Splice_Site|SPTAN1_ENST00000358161.5_Splice_Site	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1						actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CCTCTGTGCAGGACACGCATA	0.532																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000372739.3																			0				NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.e23-1		spectrin, alpha, non-erythrocytic 1							76	60	66					9																	131355261		2203	4300	6503	SO:0001630	splice_region_variant	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131355261G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.3156-1G>A	9.37:g.131355261G>A						SPTAN1_ENST00000358161.5_Splice_Site|SPTAN1_ENST00000372731.4_Splice_Site		NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN			23	3265	+								Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Splice_Site	SNP	ENST00000372731.4	37		CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998181	0.74818	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7891	0.91966	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPTAN1	130395082	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.232000	0.89796	2.761000	0.94854	0.591000	0.81541	.		0.532	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127	Intron	3	13	0	0	0	1	0	3	13					A	131355261	G	A	131355261	5	1	35	1	0	0	0	0	0	0	1	0	15116	1014	35	2	3241	2	SPTAN1	9	131355261	Splice_Site	SNP	G	TCGA-BJ-A3PU-01A-11D-A21Z-08		131355261	9858170	14	960											
RXRA	6256	broad.mit.edu	37	chr9	137323832	137323832	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcctgcgcgccatcgtcctCtttaaccctggtatggcctt	9	15	1	0			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr9:137323832C>T	ENST00000481739.1	+	8	1177	c.1125C>T	c.(1123-1125)ctC>ctT	p.L375L	RXRA_ENST00000540193.1_Silent_p.L278L|RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	375	Ligand-binding.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	CCATCGTCCTCTTTAACCCTG	0.627																																						ENST00000540193.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(832-834)ctC>ctT		retinoid X receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)						120	97	105					9																	137323832		2203	4300	6503	SO:0001819	synonymous_variant	6256				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	g.chr9:137323832C>T	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"Nuclear hormone receptors"	10477	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 1"	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.1125C>T	9.37:g.137323832C>T						RXRA_ENST00000481739.1_Silent_p.L375L|RXRA_ENST00000356384.4_3'UTR	p.L278L			P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	7	1757	+			375			Ligand-binding.		B3KY83|Q2NL52|Q2V504	Silent	SNP	ENST00000481739.1	37	c.834C>T	CCDS35172.1																																																																																				0.627	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1	NM_002957		22	24	0	0	0	1	0	22	24					T	137323832	C	T	137323832	2	4	35	1	0	0	0	0	0	0	0	1	13763	900	32	2		2	RXRA	9	137323832	Silent	SNP	C	TCGA-BJ-A3PU-01A-11D-A21Z-08	5968571	137323832	3889599	15	961											
SVIL	6840	broad.mit.edu	37	chr10	29752485	29752485	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggcccagcggatgcgggcGgaaccagtgatcttgttctc	15	11	2	1	rs56022643	byFrequency	TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr10:29752485G>A	ENST00000355867.4	-	35	6965	c.6213C>T	c.(6211-6213)tcC>tcT	p.S2071S	PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000375400.3_Silent_p.S1645S|SVIL_ENST00000375398.2_Silent_p.S2071S|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000535393.1_Silent_p.S985S|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000423223.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	2071					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)				GGATGCGGGCGGAACCAGTGA	0.592													A|||	17	0.00339457	8e-04	0.0086	5008	,	,		19156	0		0.008	False		,,,				2504	0.002					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.(6211-6213)tcC>tcT		supervillin		A	,	4,4402	825.9+/-416.6	0,4,2199	79	67	71		4935,6213	-9.3	0.0	10	dbSNP_129	71	59,8541	816.6+/-406.9	0,59,4241	no	coding-synonymous,coding-synonymous	SVIL	NM_003174.3,NM_021738.2	,	0,63,6440	AA,AG,GG		0.686,0.0908,0.4844	,	1645/1789,2071/2215	29752485	63,12943	2203	4300	6503	SO:0001819	synonymous_variant	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29752485G>A	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.6213C>T	10.37:g.29752485G>A						PTCHD3P1_ENST00000445521.1_RNA|SVIL_ENST00000535393.1_Silent_p.S985S|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000355867.4_Silent_p.S2071S|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000375400.3_Silent_p.S1645S|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000446807.1_RNA	p.S2071S			O95425	SVIL_HUMAN			37	6662	-		Breast(68;0.103)	2071					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	37	c.6213C>T	CCDS7164.1																																																																																				0.592	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			3	57	0	0	0	1	0	3	57					A	29752485	G	A	29752485	2	1	35	1	0	0	0	0	0	0	0	1	15418	1103	39	1		1	SVIL	10	29752485	Silent	SNP	G	TCGA-BJ-A3PU-01A-11D-A21Z-08		29752485	105782262	16	962											
CNOT2	4848	broad.mit.edu	37	chr12	70732321	70732321	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aataataaccagcagaaaaaAgggatccaggtgttacctga	9	7	0	2			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr12:70732321A>G	ENST00000418359.3	+	11	1450	c.999A>G	c.(997-999)aaA>aaG	p.K333K	CNOT2_ENST00000229195.3_Silent_p.K333K|CNOT2_ENST00000551483.1_5'UTR	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	333					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			AGCAGAAAAAAGGGATCCAGG	0.323																																						ENST00000229195.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20						c.(997-999)aaA>aaG		CCR4-NOT transcription complex, subunit 2							87	90	89					12																	70732321		2203	4300	6503	SO:0001819	synonymous_variant	4848				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	g.chr12:70732321A>G	AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.999A>G	12.37:g.70732321A>G						CNOT2_ENST00000551483.1_5'UTR|CNOT2_ENST00000418359.3_Silent_p.K333K	p.K333K	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		10	1578	+	Renal(347;0.236)		333					Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Silent	SNP	ENST00000418359.3	37	c.999A>G	CCDS31857.1	.	.	.	.	.	.	.	.	.	.	A	5.067	0.198090	0.09652	.	.	ENSG00000111596	ENST00000552599	.	.	.	5.71	-0.549	0.11829	.	.	.	.	.	T	0.55955	0.1953	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50268	-0.8848	4	.	.	.	-7.611	9.9087	0.41392	0.6553:0.0:0.3447:0.0	.	.	.	.	G	44	.	.	R	+	1	2	CNOT2	69018588	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	2.180000	0.42537	-0.100000	0.12241	-0.376000	0.06991	AGG		0.323	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1			3	107	0	0	0	1	0	3	107					G	70732321	A	G	70732321	2	3	35	1	0	0	0	0	0	0	0	1	3619	69	3	3		3	CNOT2	12	70732321	Silent	SNP	A	TCGA-BJ-A3PU-01A-11D-A21Z-08		70732321	63119574	17	963											
TSPAN8	7103	broad.mit.edu	37	chr12	71519144	71519144	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgatctggcaatacaggacCatagaaaacaccaaacccag	7	13	1	1			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr12:71519144C>A	ENST00000393330.2	-	12	1236	c.684G>T	c.(682-684)atG>atT	p.M228I	TSPAN8_ENST00000247829.3_Missense_Mutation_p.M228I|TSPAN8_ENST00000552128.1_Missense_Mutation_p.M145I|TSPAN8_ENST00000546561.1_Missense_Mutation_p.M228I			P19075	TSN8_HUMAN	tetraspanin 8	228					negative regulation of blood coagulation (GO:0030195)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			AATACAGGACCATAGAAAACA	0.353																																						ENST00000393330.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19						c.(682-684)atG>atT		tetraspanin 8							124	115	118					12																	71519144		2203	4300	6503	SO:0001583	missense	7103				protein glycosylation	integral to membrane|lysosome	signal transducer activity	g.chr12:71519144C>A	M35252	CCDS8999.1	12q14.1-q21.1	2013-02-14	2005-03-21	2005-03-21		ENSG00000127324		"Tetraspanins"	11855	protein-coding gene	gene with protein product		600769	"transmembrane 4 superfamily member 3"	TM4SF3		2395876	Standard	NM_004616		Approved	CO-029	uc001swj.1	P19075		ENST00000393330.2:c.684G>T	12.37:g.71519144C>A	ENSP00000377003:p.Met228Ile					TSPAN8_ENST00000546561.1_Missense_Mutation_p.M228I|TSPAN8_ENST00000247829.3_Missense_Mutation_p.M228I|TSPAN8_ENST00000552128.1_Missense_Mutation_p.M145I	p.M228I			P19075	TSN8_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)		12	1236	-			228					B2R7T7|Q9BS78	Missense_Mutation	SNP	ENST00000393330.2	37	c.684G>T	CCDS8999.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.609095	0.46527	.	.	ENSG00000127324	ENST00000393330;ENST00000247829;ENST00000546561;ENST00000552128	T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21	6.16	4.27	0.50696	.	0.252557	0.49305	N	0.000143	T	0.75428	0.3848	L	0.61387	1.9	0.39786	D	0.972371	P	0.39181	0.663	B	0.41510	0.359	T	0.74893	-0.3509	10	0.30078	T	0.28	.	12.1046	0.53805	0.3307:0.6693:0.0:0.0	.	228	P19075	TSN8_HUMAN	I	228;228;228;145	ENSP00000377003:M228I;ENSP00000247829:M228I;ENSP00000447160:M228I;ENSP00000449820:M145I	ENSP00000247829:M228I	M	-	3	0	TSPAN8	69805411	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.873000	0.39558	1.590000	0.49995	0.650000	0.86243	ATG		0.353	TSPAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404737.1	NM_004616		49	73	1	0	1.87854e-15	1	2.05466e-15	49	73					A	71519144	C	A	71519144	3	1	35	1	0	0	0	0	1	0	0	0	16650	594	21	4	33	4	TSPAN8	12	71519144	Missense_Mutation	SNP	C	TCGA-BJ-A3PU-01A-11D-A21Z-08	786823	71519144	62332751	18	964											
TMEM132D	121256	broad.mit.edu	37	chr12	130184856	130184856	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccggcgctgcggtcgtccCagtctctgcccatgatgtgg	13	16	1	1			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr12:130184856C>A	ENST00000422113.2	-	2	793	c.467G>T	c.(466-468)tGg>tTg	p.W156L	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	156					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GCGGTCGTCCCAGTCTCTGCC	0.607																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(466-468)tGg>tTg		transmembrane protein 132D							28	28	28					12																	130184856		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:130184856C>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.467G>T	12.37:g.130184856C>A	ENSP00000408581:p.Trp156Leu						p.W156L	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	793	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	156					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.467G>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919216	0.73098	.	.	ENSG00000151952	ENST00000422113	T	0.13089	2.62	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000015	T	0.37999	0.1024	M	0.67625	2.065	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	T	0.03818	-1.1001	9	.	.	.	-22.3852	19.0288	0.92946	0.0:1.0:0.0:0.0	.	156	Q14C87	T132D_HUMAN	L	156	ENSP00000408581:W156L	.	W	-	2	0	TMEM132D	128750809	1.000000	0.71417	0.996000	0.52242	0.303000	0.27691	7.619000	0.83057	2.472000	0.83506	0.555000	0.69702	TGG		0.607	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		13	35	1	0	1.61879e-10	1	1.7169e-10	13	35					A	130184856	C	A	130184856	3	1	35	1	0	0	0	0	1	0	0	0	16044	595	21	4	2864	4	TMEM132D	12	130184856	Missense_Mutation	SNP	C	TCGA-BJ-A3PU-01A-11D-A21Z-08	58665712	130184856	3667039	19	965											
TMC7	79905	broad.mit.edu	37	chr16	19058506	19058506	+	Frame_Shift_Del	DEL	T	T	-													ccatctgctggatcggagccTttttctcaccccttctccct							TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr16:19058506delT	ENST00000304381.5	+	12	1805	c.1675delT	c.(1675-1677)tttfs	p.F560fs	TMC7_ENST00000569532.1_Frame_Shift_Del_p.F560fs|TMC7_ENST00000421369.3_Frame_Shift_Del_p.F450fs	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	560					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GATCGGAGCCTTTTTCTCACC	0.502																																						ENST00000421369.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						c.(1345-1347)ttfs		transmembrane channel-like 7							294	304	300					16																	19058506		2197	4300	6497	SO:0001589	frameshift_variant	79905					integral to membrane		g.chr16:19058506delT	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.1675delT	16.37:g.19058506delT	ENSP00000304710:p.Phe560fs					TMC7_ENST00000569532.1_Frame_Shift_Del_p.F560fs|TMC7_ENST00000304381.5_Frame_Shift_Del_p.F560fs	p.F450fs	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN			12	1903	+			560					E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Frame_Shift_Del	DEL	ENST00000304381.5	37	c.1345delT	CCDS10573.1																																																																																				0.502	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		7	752						7	752	---	---	---	---	-	19058506	T	-	19058506	7	5	35	1	0	1	0	1	0	0	0	0	15987	1609	56	0	1721	0	TMC7	16	19058506	Frame_Shift_Del	DEL	T	TCGA-BJ-A3PU-01A-11D-A21Z-08		19058506	71296247	20	966											
INO80E	283899	broad.mit.edu	37	chr16	30012109	30012109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgcatcatcagataacaGcgagacggaggggacaccca	11	12	2	2			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr16:30012109G>A	ENST00000563197.1	+	4	1253	c.236G>A	c.(235-237)aGc>aAc	p.S79N	INO80E_ENST00000304516.7_Missense_Mutation_p.S79N|INO80E_ENST00000567705.1_Missense_Mutation_p.S79N|INO80E_ENST00000567254.1_Missense_Mutation_p.S79N	NM_173618.1	NP_775889.1	Q8NBZ0	IN80E_HUMAN	INO80 complex subunit E	79					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						TCAGATAACAGCGAGACGGAG	0.587																																						ENST00000563197.1																			0				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						c.(235-237)aGc>aAc		INO80 complex subunit E							74	61	65					16																	30012109		2197	4300	6497	SO:0001583	missense	283899				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex		g.chr16:30012109G>A	AK075133	CCDS10665.1	16p11.2	2011-07-06	2008-08-07	2008-08-07	ENSG00000169592	ENSG00000169592		"INO80 complex subunits"	26905	protein-coding gene	gene with protein product			"coiled-coil domain containing 95"	CCDC95		16230350	Standard	NM_173618		Approved	FLJ90652	uc002dvg.1	Q8NBZ0	OTTHUMG00000132114	ENST00000563197.1:c.236G>A	16.37:g.30012109G>A	ENSP00000457016:p.Ser79Asn					INO80E_ENST00000567254.1_Missense_Mutation_p.S79N|INO80E_ENST00000304516.7_Missense_Mutation_p.S79N|INO80E_ENST00000567705.1_Missense_Mutation_p.S79N	p.S79N	NM_173618.1	NP_775889.1	Q8NBZ0	IN80E_HUMAN			4	1253	+			79					Q6Y2K3	Missense_Mutation	SNP	ENST00000563197.1	37	c.236G>A	CCDS10665.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.901111	0.92035	.	.	ENSG00000169592	ENST00000304516;ENST00000380503;ENST00000540562	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.76271	0.3964	M	0.61703	1.905	0.54753	D	0.999982	P;D;D	0.57899	0.945;0.981;0.981	D;D;D	0.63597	0.916;0.916;0.916	T	0.76364	-0.2986	9	0.59425	D	0.04	-12.833	17.7145	0.88332	0.0:0.0:1.0:0.0	.	103;79;79	Q8TEI7;Q6Y2K3;Q8NBZ0	.;.;IN80E_HUMAN	N	79;103;79	.	ENSP00000303977:S79N	S	+	2	0	INO80E	29919610	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.287000	0.72671	2.790000	0.95986	0.591000	0.81541	AGC		0.587	INO80E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255156.2	NM_173618		3	58	0	0	0	1	0	3	58					A	30012109	G	A	30012109	3	1	35	1	0	0	0	0	1	0	0	0	7750	971	34	2	250	2	INO80E	16	30012109	Missense_Mutation	SNP	G	TCGA-BJ-A3PU-01A-11D-A21Z-08	10953603	30012109	60342644	21	967											
MYST1	84148	broad.mit.edu	37	chr16	31141896	31141896	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctagagatcctgcgggacTtccggggcacactgtccatc	12	13	0	1			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr16:31141896T>C	ENST00000543774.2	+	10	1461	c.1126T>C	c.(1126-1128)Ttc>Ctc	p.F376L	KAT8_ENST00000219797.4_Missense_Mutation_p.F376L|KAT8_ENST00000448516.2_Missense_Mutation_p.F376L|RP11-388M20.2_ENST00000563605.1_RNA			Q9H7Z6	KAT8_HUMAN	K(lysine) acetyltransferase 8	376	MYST-type HAT.|Sufficient for interaction with KANSL1.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|myeloid cell differentiation (GO:0030099)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	histone acetyltransferase complex (GO:0000123)|kinetochore (GO:0000776)|MLL1 complex (GO:0071339)|MSL complex (GO:0072487)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|transcription factor binding (GO:0008134)										CCTGCGGGACTTCCGGGGCAC	0.647																																						ENST00000543774.2																			0											c.(1126-1128)Ttc>Ctc		K(lysine) acetyltransferase 8							46	47	47					16																	31141896		2197	4300	6497	SO:0001583	missense	84148				histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding	g.chr16:31141896T>C	AF217501	CCDS10706.1, CCDS45468.1	16p11.1	2013-01-10	2011-07-21	2011-07-21	ENSG00000103510	ENSG00000103510	2.3.1.48	"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing"	17933	protein-coding gene	gene with protein product		609912	"MYST histone acetyltransferase 1"	MYST1		10786633	Standard	NM_032188		Approved	MOF, FLJ14040, hMOF, ZC2HC8	uc002eax.3	Q9H7Z6	OTTHUMG00000132410	ENST00000543774.2:c.1126T>C	16.37:g.31141896T>C	ENSP00000456933:p.Phe376Leu					KAT8_ENST00000448516.2_Missense_Mutation_p.F376L|KAT8_ENST00000219797.4_Missense_Mutation_p.F376L	p.F376L			Q9H7Z6	MYST1_HUMAN			10	1461	+			376					A8K4Z1|G5E9P2|Q659G0|Q7LC17|Q8IY59|Q8WYB4|Q8WZ14|Q9HAC5|Q9NR35	Missense_Mutation	SNP	ENST00000543774.2	37	c.1126T>C	CCDS10706.1	.	.	.	.	.	.	.	.	.	.	t	15.52	2.857210	0.51376	.	.	ENSG00000103510	ENST00000219797;ENST00000448516	.	.	.	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.43678	0.1258	L	0.33189	0.99	0.80722	D	1	B;B;B	0.11235	0.001;0.002;0.004	B;B;B	0.06405	0.002;0.002;0.002	T	0.31833	-0.9929	9	0.10377	T	0.69	-20.6273	13.6347	0.62215	0.0:0.0:0.0:1.0	.	376;376;376	Q9H7Z6-2;Q9H7Z6;G5E9P2	.;KAT8_HUMAN;.	L	376	.	ENSP00000219797:F376L	F	+	1	0	KAT8	31049397	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.514000	0.81750	2.075000	0.62263	0.454000	0.30748	TTC		0.647	KAT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000255546.3	NM_032188		17	39	0	0	0	1	0	17	39					C	31141896	T	C	31141896	3	2	35	1	0	0	0	0	1	0	0	0	10102	1609	56	3	1160	3	MYST1	16	31141896	Missense_Mutation	SNP	T	TCGA-BJ-A3PU-01A-11D-A21Z-08	1129787	31141896	59212857	22	968											
CNOT1	23019	broad.mit.edu	37	chr16	58560012	58560012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaattggtgagaatccgggGagcaatgttaatttcactca	11	6	2	1			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr16:58560012G>A	ENST00000317147.5	-	45	6816	c.6484C>T	c.(6484-6486)Ccc>Tcc	p.P2162S	CNOT1_ENST00000569240.1_Missense_Mutation_p.P2157S|CNOT1_ENST00000245138.4_Missense_Mutation_p.P1013S	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2162					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|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)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AGAATCCGGGGAGCAATGTTA	0.378																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(6484-6486)Ccc>Tcc		CCR4-NOT transcription complex, subunit 1							112	111	111					16																	58560012		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58560012G>A	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.6484C>T	16.37:g.58560012G>A	ENSP00000320949:p.Pro2162Ser					CNOT1_ENST00000569240.1_Missense_Mutation_p.P2157S|CNOT1_ENST00000245138.4_Missense_Mutation_p.P1013S	p.P2162S	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	45	6816	-			2162					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.6484C>T	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	32	5.118834	0.94385	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000546037;ENST00000245138	T	0.63096	-0.02	5.68	5.68	0.88126	CCR4-Not complex component, Not1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86012	0.5831	H	0.95574	3.69	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	0.89592	0.3828	10	0.72032	D	0.01	.	18.7868	0.91959	0.0:0.0:1.0:0.0	.	1013;2162;2157	B5MDN3;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	S	2162;856;167;1013	ENSP00000320949:P2162S	ENSP00000245138:P1013S	P	-	1	0	CNOT1	57117513	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.626000	0.98410	2.682000	0.91365	0.557000	0.71058	CCC		0.378	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		32	94	0	0	0	1	0	32	94					A	58560012	G	A	58560012	3	1	35	1	0	0	0	0	1	0	0	0	3617	1174	41	2	666	2	CNOT1	16	58560012	Missense_Mutation	SNP	G	TCGA-BJ-A3PU-01A-11D-A21Z-08	27418116	58560012	31794741	23	969											
TTC39C	125488	broad.mit.edu	37	chr18	21646063	21646063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactgtgtgaaagtgaagagGctggagtaattgaaacaatc	12	4	0	4			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr18:21646063G>A	ENST00000317571.3	+	3	540	c.304G>A	c.(304-306)Gct>Act	p.A102T	TTC39C_ENST00000578150.1_3'UTR|TTC39C_ENST00000304621.6_Missense_Mutation_p.A41T	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	102										breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						AAGTGAAGAGGCTGGAGTAAT	0.358																																						ENST00000317571.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						c.(304-306)Gct>Act		tetratricopeptide repeat domain 39C							116	128	124					18																	21646063		2203	4300	6503	SO:0001583	missense	125488						binding	g.chr18:21646063G>A	AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"Tetratricopeptide (TTC) repeat domain containing"	26595	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 17"	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.304G>A	18.37:g.21646063G>A	ENSP00000323645:p.Ala102Thr					TTC39C_ENST00000578150.1_3'UTR|TTC39C_ENST00000304621.6_Missense_Mutation_p.A41T	p.A102T	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN			3	540	+			102					B7WP63|J3QRR1|Q0VAJ2|Q8N284	Missense_Mutation	SNP	ENST00000317571.3	37	c.304G>A	CCDS45839.1	.	.	.	.	.	.	.	.	.	.	G	9.502	1.103513	0.20632	.	.	ENSG00000168234	ENST00000304621;ENST00000317571	T;T	0.46819	0.86;0.86	5.41	5.41	0.78517	.	0.050625	0.85682	D	0.000000	T	0.40694	0.1127	L	0.36672	1.1	0.80722	D	1	B	0.26902	0.163	B	0.27380	0.079	T	0.21211	-1.0252	10	0.14252	T	0.57	-1.7976	19.1675	0.93562	0.0:0.0:1.0:0.0	.	102	Q8N584	TT39C_HUMAN	T	41;102	ENSP00000306598:A41T;ENSP00000323645:A102T	ENSP00000306598:A41T	A	+	1	0	TTC39C	19900061	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.237000	0.65360	2.545000	0.85829	0.561000	0.74099	GCT		0.358	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446107.1	NM_153211		12	41	0	0	0	1	0	12	41					A	21646063	G	A	21646063	3	1	35	1	0	0	0	0	1	0	0	0	16706	1203	42	2	314	2	TTC39C	18	21646063	Missense_Mutation	SNP	G	TCGA-BJ-A3PU-01A-11D-A21Z-08		21646063	56431185	24	970											
ZNF700	90592	broad.mit.edu	37	chr19	12060967	12060967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actatgaatgtaaggaatgcGgaaaagcattcaattatttt	8	4	1	1			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr19:12060967G>A	ENST00000254321.5	+	4	2271	c.2128G>A	c.(2128-2130)Gga>Aga	p.G710R	ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF700_ENST00000482090.1_Missense_Mutation_p.G692R|ZNF763_ENST00000591944.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	710					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TAAGGAATGCGGAAAAGCATT	0.383																																						ENST00000482090.1																		ZNF700/MAST1_ENST00000251472(2)	0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						c.(2074-2076)Gga>Aga		zinc finger protein 700							84	78	80					19																	12060967		2203	4300	6503	SO:0001583	missense	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12060967G>A	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"Zinc fingers, C2H2-type", "-"	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.2128G>A	19.37:g.12060967G>A	ENSP00000254321:p.Gly710Arg					ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.G710R	p.G692R			Q9H0M5	ZN700_HUMAN			3	2492	+			710					B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	c.2074G>A	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	g	9.708	1.156403	0.21454	.	.	ENSG00000196757	ENST00000254321	T	0.21361	2.01	0.826	-1.45	0.08828	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43411	0.1246	M	0.86028	2.79	0.26756	N	0.970108	D	0.89917	1.0	D	0.75020	0.985	T	0.26224	-1.0109	9	0.54805	T	0.06	.	7.1518	0.25614	0.2422:0.0:0.7578:0.0	.	710	Q9H0M5	ZN700_HUMAN	R	710	ENSP00000254321:G710R	ENSP00000254321:G710R	G	+	1	0	ZNF700	11921967	0.997000	0.39634	0.000000	0.03702	0.050000	0.14768	1.988000	0.40697	-0.567000	0.06046	0.313000	0.20887	GGA		0.383	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		3	58	0	0	0	1	0	3	58					A	12060967	G	A	12060967	3	1	35	1	0	0	0	0	1	0	0	0	18101	1117	39	1	2142	1	ZNF700	19	12060967	Missense_Mutation	SNP	G	TCGA-BJ-A3PU-01A-11D-A21Z-08		12060967	47068016	25	971											
CHST8	64377	broad.mit.edu	37	chr19	34263440	34263440	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtatcttgcaccgtctcagCacctacaccaagatgctctt	7	14	3	1			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr19:34263440C>T	ENST00000262622.4	+	4	1505	c.747C>T	c.(745-747)agC>agT	p.S249S	CHST8_ENST00000438847.3_Silent_p.S249S|CHST8_ENST00000434302.1_Silent_p.S249S	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	249					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					ACCGTCTCAGCACCTACACCA	0.602																																						ENST00000262622.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27						c.(745-747)agC>agT		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8							129	115	119					19																	34263440		2203	4300	6503	SO:0001819	synonymous_variant	64377				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr19:34263440C>T	AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"Sulfotransferases, membrane-bound"	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.747C>T	19.37:g.34263440C>T						CHST8_ENST00000438847.2_Silent_p.S249S|CHST8_ENST00000434302.1_Silent_p.S249S	p.S249S	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN			4	1505	+	Esophageal squamous(110;0.162)		249					Q9H3N2	Silent	SNP	ENST00000262622.4	37	c.747C>T	CCDS12433.1																																																																																				0.602	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		8	108	0	0	0	1	0	8	108					T	34263440	C	T	34263440	2	4	35	1	0	0	0	0	0	0	0	1	3410	709	25	2		2	CHST8	19	34263440	Silent	SNP	C	TCGA-BJ-A3PU-01A-11D-A21Z-08	22202473	34263440	24865543	26	972											
NLRP8	126205	broad.mit.edu	37	chr19	56466799	56466799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtctgtgtcacttggccGcagacagcatgtggcacagg	14	10	2	1			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr19:56466799G>A	ENST00000291971.3	+	3	1446	c.1375G>A	c.(1375-1377)Gca>Aca	p.A459T	NLRP8_ENST00000590542.1_Missense_Mutation_p.A459T	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	459	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCACTTGGCCGCAGACAGCAT	0.498																																						ENST00000291971.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(1375-1377)Gca>Aca		NLR family, pyrin domain containing 8							108	101	104					19																	56466799		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56466799G>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"Nucleotide-binding domain and leucine rich repeat containing"	22940	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"	609659	"NACHT, leucine rich repeat and PYD containing 8"	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1375G>A	19.37:g.56466799G>A	ENSP00000291971:p.Ala459Thr					NLRP8_ENST00000590542.1_Missense_Mutation_p.A459T	p.A459T	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	1446	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	459			NACHT.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.1375G>A	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.979924	0.34942	.	.	ENSG00000179709	ENST00000291971	D	0.83837	-1.77	2.04	0.947	0.19555	.	.	.	.	.	D	0.87438	0.6177	M	0.74647	2.275	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.65010	0.928;0.931	T	0.75419	-0.3324	9	0.72032	D	0.01	.	5.6935	0.17843	0.0:0.0:0.6797:0.3203	.	459;459	Q86W28-2;Q86W28	.;NALP8_HUMAN	T	459	ENSP00000291971:A459T	ENSP00000291971:A459T	A	+	1	0	NLRP8	61158611	0.057000	0.20700	0.001000	0.08648	0.002000	0.02628	2.681000	0.46926	0.401000	0.25424	-0.426000	0.05927	GCA		0.498	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		4	118	0	0	0	1	0	4	118					A	56466799	G	A	56466799	3	1	35	1	0	0	0	0	1	0	0	0	10483	1087	38	1	1385	1	NLRP8	19	56466799	Missense_Mutation	SNP	G	TCGA-BJ-A3PU-01A-11D-A21Z-08	22203359	56466799	2662184	27	973											
HLCS	3141	broad.mit.edu	37	chr21	38137432	38137432	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggagatgagcagagtagaaaGagcacatcccacagggctca	13	9	1	5			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr21:38137432G>C	ENST00000399120.1	-	9	2791	c.1561C>G	c.(1561-1563)Ctt>Gtt	p.L521V	HLCS_ENST00000336648.4_Missense_Mutation_p.L521V	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	521	BPL/LPL catalytic. {ECO:0000255|PROSITE- ProRule:PRU01067}.				biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	AGAGTAGAAAGAGCACATCCC	0.572																																						ENST00000399120.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24						c.(1561-1563)Ctt>Gtt		holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	Biotin(DB00121)						166	129	142					21																	38137432		2203	4300	6503	SO:0001583	missense	3141				cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	g.chr21:38137432G>C		CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)", "holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.1561C>G	21.37:g.38137432G>C	ENSP00000382071:p.Leu521Val					HLCS_ENST00000336648.3_Missense_Mutation_p.L521V	p.L521V	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN			9	2791	-		Myeloproliferative disorder(46;0.0422)	521					B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	ENST00000399120.1	37	c.1561C>G	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	G	8.286	0.816556	0.16607	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.94232	-3.38;-3.38	5.82	0.378	0.16204	Biotin/lipoate A/B protein ligase (1);	0.376195	0.27076	N	0.021044	D	0.89518	0.6738	M	0.67953	2.075	0.09310	N	1	P	0.43231	0.801	B	0.40782	0.34	T	0.82762	-0.0297	10	0.66056	D	0.02	.	3.6012	0.08026	0.1195:0.1058:0.3211:0.4537	.	521	P50747	BPL1_HUMAN	V	521	ENSP00000382071:L521V;ENSP00000338387:L521V	ENSP00000338387:L521V	L	-	1	0	HLCS	37059302	0.459000	0.25768	0.001000	0.08648	0.020000	0.10135	0.826000	0.27407	0.043000	0.15746	-0.262000	0.10625	CTT		0.572	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2			4	75	0	0	0	1	0	4	75					C	38137432	G	C	38137432	3	2	35	1	0	0	0	0	1	0	0	0	7213	942	33	4	635	4	HLCS	21	38137432	Missense_Mutation	SNP	G	TCGA-BJ-A3PU-01A-11D-A21Z-08		38137432	9992463	28	974											
DSCAM	1826	broad.mit.edu	37	chr21	41539194	41539194	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atataggctccaggtgaactTcctgaggtggaccatcagga	12	9	1	2			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr21:41539194T>C	ENST00000400454.1	-	16	3446	c.2969A>G	c.(2968-2970)gAa>gGa	p.E990G		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	990	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAGGTGAACTTCCTGAGGTGG	0.532																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(2968-2970)gAa>gGa		Down syndrome cell adhesion molecule							99	99	99					21																	41539194		1927	4128	6055	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41539194T>C	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.2969A>G	21.37:g.41539194T>C	ENSP00000383303:p.Glu990Gly						p.E990G	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			16	3446	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	990			Fibronectin type-III 2.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.2969A>G	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	T	15.26	2.781719	0.49891	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.55760	0.5;0.5	5.22	5.22	0.72569	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.106075	0.64402	D	0.000004	T	0.34716	0.0907	N	0.11789	0.175	0.38613	D	0.95094	B	0.21381	0.055	B	0.24701	0.055	T	0.26950	-1.0088	10	0.30854	T	0.27	.	11.8118	0.52188	0.0:0.0:0.0:1.0	.	990	O60469	DSCAM_HUMAN	G	990;742	ENSP00000383303:E990G;ENSP00000385342:E742G	ENSP00000383303:E990G	E	-	2	0	DSCAM	40461064	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.310000	0.65780	2.099000	0.63709	0.533000	0.62120	GAA		0.532	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		3	100	0	0	0	1	0	3	100					C	41539194	T	C	41539194	3	2	35	1	0	0	0	0	1	0	0	0	4768	1783	62	3	3141	3	DSCAM	21	41539194	Missense_Mutation	SNP	T	TCGA-BJ-A3PU-01A-11D-A21Z-08	3401762	41539194	6590701	29	975											
MID2	11043	broad.mit.edu	37	chrX	107148766	107148766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccgccagtgtcttgaacGgtcaacagtcctcatcaacc	8	14	4	1			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chrX:107148766G>A	ENST00000262843.6	+	5	1531	c.983G>A	c.(982-984)cGg>cAg	p.R328Q	RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Missense_Mutation_p.R328Q	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	328					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)|negative regulation of viral transcription (GO:0032897)|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 localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TGTCTTGAACGGTCAACAGTC	0.403																																						ENST00000262843.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						c.(982-984)cGg>cAg		midline 2							163	145	151					X																	107148766		2203	4300	6503	SO:0001583	missense	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107148766G>A		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.983G>A	X.37:g.107148766G>A	ENSP00000262843:p.Arg328Gln					RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Missense_Mutation_p.R328Q	p.R328Q	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN			5	1531	+			328					A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	ENST00000262843.6	37	c.983G>A	CCDS14532.2	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865898	0.91511	.	.	ENSG00000080561	ENST00000262843;ENST00000443968	T;T	0.58652	0.32;0.34	5.58	5.58	0.84498	B-box, C-terminal (1);	0.103566	0.64402	D	0.000002	T	0.59418	0.2192	L	0.53249	1.67	0.54753	D	0.999988	D;P	0.61697	0.99;0.501	P;B	0.48114	0.567;0.179	T	0.57171	-0.7857	10	0.26408	T	0.33	.	15.8544	0.78965	0.0:0.0:1.0:0.0	.	328;328	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	Q	328	ENSP00000262843:R328Q;ENSP00000413976:R328Q	ENSP00000262843:R328Q	R	+	2	0	MID2	107035422	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.317000	0.79018	2.343000	0.79666	0.600000	0.82982	CGG		0.403	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216		9	115	0	0	0	1	0	9	115					A	107148766	G	A	107148766	3	1	35	1	0	0	0	0	1	0	0	0	9578	1116	39	1	1001	1	MID2	23	107148766	Missense_Mutation	SNP	G	TCGA-BJ-A3PU-01A-11D-A21Z-08		107148766	48121794	30	976											
BGN	633	broad.mit.edu	37	chrX	152772037	152772037	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctttgaacctggagccttcGatggcctgaagctcaactac	10	12	1	2			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chrX:152772037G>A	ENST00000331595.4	+	5	802	c.616G>A	c.(616-618)Gat>Aat	p.D206N	BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	206					blood vessel remodeling (GO:0001974)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|glycosaminoglycan binding (GO:0005539)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGAGCCTTCGATGGCCTGAA	0.612																																						ENST00000331595.4																			0				breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16						c.(616-618)Gat>Aat		biglycan							121	103	109					X																	152772037		2203	4300	6503	SO:0001583	missense	633					proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent	g.chrX:152772037G>A	AK092954	CCDS14721.1	Xq28	2008-02-05			ENSG00000182492	ENSG00000182492		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	1044	protein-coding gene	gene with protein product	"biglycan proteoglycan"	301870				1612609	Standard	NM_001711		Approved	DSPG1, SLRR1A	uc004fhr.2	P21810	OTTHUMG00000024205	ENST00000331595.4:c.616G>A	X.37:g.152772037G>A	ENSP00000327336:p.Asp206Asn					BGN_ENST00000370204.1_Missense_Mutation_p.D145N|BGN_ENST00000480756.1_3'UTR	p.D206N	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN			5	802	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		206					D3DWU3|P13247	Missense_Mutation	SNP	ENST00000331595.4	37	c.616G>A	CCDS14721.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.591485	0.28357	.	.	ENSG00000182492	ENST00000331595;ENST00000431891;ENST00000370204;ENST00000430380	T;D;T	0.82167	0.39;-1.58;0.39	4.71	3.85	0.44370	.	0.113514	0.64402	D	0.000015	T	0.70107	0.3186	N	0.25060	0.705	0.41541	D	0.988511	B	0.09022	0.002	B	0.08055	0.003	T	0.61362	-0.7078	10	0.20046	T	0.44	-18.0593	11.3012	0.49306	0.0942:0.0:0.9058:0.0	.	206	P21810	PGS1_HUMAN	N	206;223;145;145	ENSP00000327336:D206N;ENSP00000402525:D223N;ENSP00000359223:D145N	ENSP00000327336:D206N	D	+	1	0	BGN	152425231	0.997000	0.39634	0.117000	0.21633	0.487000	0.33371	2.878000	0.48515	0.911000	0.36747	0.529000	0.55759	GAT		0.612	BGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060981.1	NM_001711		12	63	0	0	0	1	0	12	63					A	152772037	G	A	152772037	3	1	35	1	0	0	0	0	1	0	0	0	1418	1058	37	1	630	1	BGN	23	152772037	Missense_Mutation	SNP	G	TCGA-BJ-A3PU-01A-11D-A21Z-08	45623271	152772037	2498523	31	977											
ATL2	64225	broad.mit.edu	37	chr2	38525479	38525479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatacatagcaaacatgaccGcaaacagtgtggctggggta	11	8	0	1			TCGA-BJ-A45D-01A-11D-A23U-08	TCGA-BJ-A45D-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8e8f132-db25-43c9-a475-df9fdae46dce	0fb3fafc-65a4-4492-90eb-5f3c0238b58f	g.chr2:38525479G>A	ENST00000378954.4	-	12	1440	c.1439C>T	c.(1438-1440)gCg>gTg	p.A480V	ATL2_ENST00000332337.4_Missense_Mutation_p.A462V|ATL2_ENST00000406122.1_Missense_Mutation_p.A309V|ATL2_ENST00000546051.1_Missense_Mutation_p.A309V|ATL2_ENST00000452935.2_Missense_Mutation_p.A462V|ATL2_ENST00000419554.2_Missense_Mutation_p.A480V|ATL2_ENST00000539122.1_Missense_Mutation_p.A309V|ATL2_ENST00000402054.1_Missense_Mutation_p.A309V	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	480					endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						AAACATGACCGCAAACAGTGT	0.408																																						ENST00000378954.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(1438-1440)gCg>gTg		atlastin GTPase 2							131	118	123					2																	38525479		2203	4300	6503	SO:0001583	missense	64225				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding	g.chr2:38525479G>A		CCDS1795.1, CCDS46260.1	2p22.3	2008-09-17	2008-09-17	2008-09-17	ENSG00000119787	ENSG00000119787			24047	protein-coding gene	gene with protein product		609368	"ADP-ribosylation factor-like 6 interacting protein 2"	ARL6IP2		10508919, 18270207	Standard	NM_022374		Approved		uc002rqq.3	Q8NHH9	OTTHUMG00000102074	ENST00000378954.4:c.1439C>T	2.37:g.38525479G>A	ENSP00000368237:p.Ala480Val					ATL2_ENST00000406122.1_Missense_Mutation_p.A309V|ATL2_ENST00000419554.2_Missense_Mutation_p.A480V|ATL2_ENST00000539122.1_Missense_Mutation_p.A309V|ATL2_ENST00000452935.2_Missense_Mutation_p.A462V|ATL2_ENST00000546051.1_Missense_Mutation_p.A309V|ATL2_ENST00000332337.4_Missense_Mutation_p.A462V|ATL2_ENST00000402054.1_Missense_Mutation_p.A309V	p.A480V	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN			12	1440	-			480					B7Z1X2|B7Z7X8|Q4ZG30|Q7Z630|Q8NHH8|Q9H5M7	Missense_Mutation	SNP	ENST00000378954.4	37	c.1439C>T	CCDS46260.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.796474	0.50208	.	.	ENSG00000119787	ENST00000378954;ENST00000406122;ENST00000402054;ENST00000539122;ENST00000332337;ENST00000419554;ENST00000452935;ENST00000546051	D;D;D;D;D;D;D;D	0.97138	-4.26;-4.26;-4.26;-4.26;-4.26;-4.26;-4.26;-4.26	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.92430	0.7597	L	0.31065	0.9	0.80722	D	1	P;B;P;B;B	0.49635	0.926;0.397;0.531;0.183;0.216	B;B;B;B;B	0.31495	0.115;0.062;0.131;0.08;0.05	D	0.91673	0.5352	10	0.18710	T	0.47	-14.909	19.0794	0.93175	0.0:0.0:1.0:0.0	.	309;462;462;480;480	B5MCN0;B7Z7X8;Q8NHH9-4;Q8NHH9-2;Q8NHH9	.;.;.;.;ATLA2_HUMAN	V	480;309;309;309;462;480;462;309	ENSP00000368237:A480V;ENSP00000385446:A309V;ENSP00000384062:A309V;ENSP00000446192:A309V;ENSP00000333393:A462V;ENSP00000415336:A480V;ENSP00000390743:A462V;ENSP00000438938:A309V	ENSP00000333393:A462V	A	-	2	0	ATL2	38378983	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	6.583000	0.74053	2.746000	0.94184	0.591000	0.81541	GCG		0.408	ATL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219886.2	NM_022374		3	49	0	0	0	1	0	3	49					A	38525479	G	A	38525479	3	1	36	1	0	0	0	0	1	0	0	0	1107	1087	38	1	432	1	ATL2	2	38525479	Missense_Mutation	SNP	G	TCGA-BJ-A45D-01A-11D-A23U-08		38525479	204673894	1	978											
FRG1	2483	broad.mit.edu	37	chr4	190876274	190876274	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcgttcagatgcaattggaCcaagagaacaatgggaacca	12	8	1	2			TCGA-BJ-A45D-01A-11D-A23U-08	TCGA-BJ-A45D-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8e8f132-db25-43c9-a475-df9fdae46dce	0fb3fafc-65a4-4492-90eb-5f3c0238b58f	g.chr4:190876274C>G	ENST00000226798.4	+	5	622	c.400C>G	c.(400-402)Cca>Gca	p.P134A	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	134					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TGCAATTGGACCAAGAGAACA	0.358																																						ENST00000226798.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(400-402)Cca>Gca		FSHD region gene 1							90	90	90					4																	190876274		2203	4300	6503	SO:0001583	missense	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190876274C>G	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.400C>G	4.37:g.190876274C>G	ENSP00000226798:p.Pro134Ala					FRG1_ENST00000514482.1_3'UTR	p.P134A	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	5	622	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	134					A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	c.400C>G	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	8.141	0.785216	0.16189	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	T;T	0.46819	1.9;0.86	4.04	4.04	0.47022	Actin cross-linking (1);	0.168316	0.56097	D	0.000034	T	0.31765	0.0807	N	0.26130	0.795	0.36971	D	0.893833	B	0.14805	0.011	B	0.19946	0.027	T	0.22906	-1.0203	10	0.17369	T	0.5	-20.035	10.2736	0.43497	0.0:0.7978:0.2022:0.0	.	134	Q14331	FRG1_HUMAN	A	134;71	ENSP00000226798:P134A;ENSP00000435943:P71A	ENSP00000226798:P134A	P	+	1	0	FRG1	191113268	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	3.544000	0.53640	1.964000	0.57103	0.567000	0.79289	CCA		0.358	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		3	39	0	0	0	1	0	3	39					G	190876274	C	G	190876274	3	3	36	1	0	0	0	0	1	0	0	0	6046	507	18	4	418	4	FRG1	4	190876274	Missense_Mutation	SNP	C	TCGA-BJ-A45D-01A-11D-A23U-08		190876274	278002	2	979											
TBC1D9B	23061	broad.mit.edu	37	chr5	179306124	179306124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcccgcgtcttggctgtgCggtacatgcacacgccacgc	13	15	1	0			TCGA-BJ-A45D-01A-11D-A23U-08	TCGA-BJ-A45D-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8e8f132-db25-43c9-a475-df9fdae46dce	0fb3fafc-65a4-4492-90eb-5f3c0238b58f	g.chr5:179306124C>T	ENST00000356834.3	-	9	1527	c.1490G>A	c.(1489-1491)cGc>cAc	p.R497H	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.R497H	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	497						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTGGCTGTGCGGTACATGCA	0.617																																						ENST00000356834.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28						c.(1489-1491)cGc>cAc		TBC1 domain family, member 9B (with GRAM domain)							57	50	53					5																	179306124		2203	4300	6503	SO:0001583	missense	23061					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	g.chr5:179306124C>T	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"EF-hand domain containing"	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.1490G>A	5.37:g.179306124C>T	ENSP00000349291:p.Arg497His					TBC1D9B_ENST00000355235.3_Missense_Mutation_p.R497H	p.R497H	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1527	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	497					D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	ENST00000356834.3	37	c.1490G>A	CCDS43408.1	.	.	.	.	.	.	.	.	.	.	C	34	5.352108	0.95830	.	.	ENSG00000197226	ENST00000356834;ENST00000355235	T;T	0.04603	3.59;3.59	5.28	5.28	0.74379	Rab-GAP/TBC domain (1);	0.066574	0.64402	D	0.000007	T	0.27349	0.0671	M	0.88640	2.97	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	P;D;D	0.65874	0.87;0.939;0.915	T	0.10109	-1.0644	10	0.87932	D	0	-23.3523	18.9235	0.92536	0.0:1.0:0.0:0.0	.	497;497;497	A1L3A9;Q66K14-2;Q66K14	.;.;TBC9B_HUMAN	H	497	ENSP00000349291:R497H;ENSP00000347375:R497H	ENSP00000347375:R497H	R	-	2	0	TBC1D9B	179238730	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	7.709000	0.84645	2.472000	0.83506	0.550000	0.68814	CGC		0.617	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		3	30	0	0	0	1	0	3	30					T	179306124	C	T	179306124	3	4	36	1	0	0	0	0	1	0	0	0	15625	768	27	1	2318	1	TBC1D9B	5	179306124	Missense_Mutation	SNP	C	TCGA-BJ-A45D-01A-11D-A23U-08		179306124	1609136	3	980											
HEPACAM2	253012	broad.mit.edu	37	chr7	92844905	92844905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attggtaagctagccgagtgCccccttccacatggcatgtc	10	13	0	0			TCGA-BJ-A45D-01A-11D-A23U-08	TCGA-BJ-A45D-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8e8f132-db25-43c9-a475-df9fdae46dce	0fb3fafc-65a4-4492-90eb-5f3c0238b58f	g.chr7:92844905C>T	ENST00000394468.2	-	3	601	c.524G>A	c.(523-525)gGc>gAc	p.G175D	HEPACAM2_ENST00000453812.2_Missense_Mutation_p.G198D|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.G163D|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.G163D	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	175	Ig-like C2-type 1.				centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TAGCCGAGTGCCCCCTTCCAC	0.517																																						ENST00000394468.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						c.(523-525)gGc>gAc		HEPACAM family member 2							113	106	108					7																	92844905		2203	4300	6503	SO:0001583	missense	253012					integral to membrane		g.chr7:92844905C>T	AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.524G>A	7.37:g.92844905C>T	ENSP00000377980:p.Gly175Asp					HEPACAM2_ENST00000341723.4_Missense_Mutation_p.G163D|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.G163D|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.G198D	p.G175D	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN			3	601	-			175			Ig-like C2-type 1.		B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Missense_Mutation	SNP	ENST00000394468.2	37	c.524G>A	CCDS43616.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.100618	0.76983	.	.	ENSG00000188175	ENST00000394468;ENST00000341723;ENST00000440868;ENST00000453812	T;T;T;T	0.09817	2.94;2.94;2.94;2.94	5.59	4.7	0.59300	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.24890	0.0604	L	0.39397	1.21	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;0.998	T	0.01409	-1.1362	10	0.33141	T	0.24	-14.3094	16.7335	0.85440	0.0:0.8706:0.1294:0.0	.	198;163;175;163	E9PDV5;C9JN07;A8MVW5;A8MVW5-2	.;.;HECA2_HUMAN;.	D	175;163;163;198	ENSP00000377980:G175D;ENSP00000340532:G163D;ENSP00000389592:G163D;ENSP00000390204:G198D	ENSP00000340532:G163D	G	-	2	0	HEPACAM2	92682841	1.000000	0.71417	0.278000	0.24718	0.858000	0.48976	4.908000	0.63307	1.467000	0.48044	0.591000	0.81541	GGC		0.517	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151		3	47	0	0	0	1	0	3	47					T	92844905	C	T	92844905	3	4	36	1	0	0	0	0	1	0	0	0	7053	739	26	2	896	2	HEPACAM2	7	92844905	Missense_Mutation	SNP	C	TCGA-BJ-A45D-01A-11D-A23U-08		92844905	66293758	4	981											
TG	7038	broad.mit.edu	37	chr8	134031904	134031907	+	Frame_Shift_Del	DEL	TTGT	TTGT	-													tctcctggagtcagtgaagaTtgtttgtatctcaatgtgtt					rs374390455		TCGA-BJ-A45D-01A-11D-A23U-08	TCGA-BJ-A45D-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8e8f132-db25-43c9-a475-df9fdae46dce	0fb3fafc-65a4-4492-90eb-5f3c0238b58f	g.chr8:134031904_134031907delTTGT	ENST00000220616.4	+	39	6880_6883	c.6840_6843delTTGT	c.(6838-6843)gattgtfs	p.DC2280fs	TG_ENST00000377869.1_Frame_Shift_Del_p.DC2223fs|TG_ENST00000542445.1_Frame_Shift_Del_p.DC650fs|TG_ENST00000519543.1_Frame_Shift_Del_p.DC413fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2280					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCAGTGAAGATTGTTTGTATCTCA	0.505																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(6838-6843)gafs		thyroglobulin																																				SO:0001589	frameshift_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134031904_134031907delTTGT	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.6840_6843delTTGT	8.37:g.134031908_134031911delTTGT	ENSP00000220616:p.Asp2280fs					TG_ENST00000519543.1_Frame_Shift_Del_p.DC413fs|TG_ENST00000377869.1_Frame_Shift_Del_p.DC2223fs|TG_ENST00000542445.1_Frame_Shift_Del_p.DC650fs	p.DC2280fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	39	6880_6883	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2280					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Frame_Shift_Del	DEL	ENST00000220616.4	37	c.6840_6843delTTGT	CCDS34944.1																																																																																				0.505	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		10	69						10	69	---	---	---	---	-	134031907	TTGT	-	134031904	7	5	36	1	0	1	0	1	0	0	0	0	15810	1490	52	0	6994	0	TG	8	134031904	Frame_Shift_Del	DEL	TTGT	TCGA-BJ-A45D-01A-11D-A23U-08		134031904	12332118	5	982											
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	14	13	0	0	rs121913233		TCGA-BJ-A45D-01A-11D-A23U-08	TCGA-BJ-A45D-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8e8f132-db25-43c9-a475-df9fdae46dce	0fb3fafc-65a4-4492-90eb-5f3c0238b58f	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117	102	107					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)				HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR	p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		32	108	0	0	0	1	0	32	108					C	533874	T	C	533874	3	2	36	1	0	0	0	0	1	0	0	0	7348	1580	55	3	466	3	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-BJ-A45D-01A-11D-A23U-08		533874	134472642	6	983											
CELA1	1990	broad.mit.edu	37	chr12	51736471	51736471	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtctccagccaccacgcGgaaagtcttctggctggcgt	12	13	3	0			TCGA-BJ-A45D-01A-11D-A23U-08	TCGA-BJ-A45D-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8e8f132-db25-43c9-a475-df9fdae46dce	0fb3fafc-65a4-4492-90eb-5f3c0238b58f	g.chr12:51736471G>A	ENST00000293636.1	-	4	254	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	72	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocrine pancreas development (GO:0031017)|inflammatory response (GO:0006954)|multicellular organism growth (GO:0035264)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas morphogenesis (GO:0061113)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						GCCACCACGCGGAAAGTCTTC	0.498																																						ENST00000293636.1																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						c.(214-216)Cgc>Tgc		chymotrypsin-like elastase family, member 1							101	78	86					12																	51736471		2203	4300	6503	SO:0001583	missense	1990				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:51736471G>A		CCDS8812.1	12q13	2012-10-02	2009-05-05	2009-05-05	ENSG00000139610	ENSG00000139610			3308	protein-coding gene	gene with protein product		130120	"elastase 1, pancreatic"	ELA1			Standard	NM_001971		Approved		uc001ryi.1	Q9UNI1	OTTHUMG00000167523	ENST00000293636.1:c.214C>T	12.37:g.51736471G>A	ENSP00000293636:p.Arg72Cys						p.R72C	NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN			4	254	-			72			Peptidase S1.		Q5MLF0|Q6DJT0|Q6ISM6	Missense_Mutation	SNP	ENST00000293636.1	37	c.214C>T	CCDS8812.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.945573	0.53079	.	.	ENSG00000139610	ENST00000293636	D	0.89617	-2.54	5.15	5.15	0.70609	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.94994	0.8380	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	D	0.95634	0.8692	10	0.87932	D	0	-14.6932	17.7701	0.88489	0.0:0.0:1.0:0.0	.	72	Q9UNI1	CELA1_HUMAN	C	72	ENSP00000293636:R72C	ENSP00000293636:R72C	R	-	1	0	CELA1	50022738	1.000000	0.71417	0.994000	0.49952	0.055000	0.15305	6.238000	0.72350	2.583000	0.87209	0.561000	0.74099	CGC		0.498	CELA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394901.1	NM_001971		3	51	0	0	0	1	0	3	51					A	51736471	G	A	51736471	3	1	36	1	0	0	0	0	1	0	0	0	3210	1116	39	1	582	1	CELA1	12	51736471	Missense_Mutation	SNP	G	TCGA-BJ-A45D-01A-11D-A23U-08		51736471	82115424	7	984											
SRP68	6730	broad.mit.edu	37	chr17	74039961	74039961	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatttacttcatttgcataTttcaggactctgtcatacag	6	8	4	0			TCGA-BJ-A45D-01A-11D-A23U-08	TCGA-BJ-A45D-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8e8f132-db25-43c9-a475-df9fdae46dce	0fb3fafc-65a4-4492-90eb-5f3c0238b58f	g.chr17:74039961T>C	ENST00000307877.2	-	13	1634	c.1473A>G	c.(1471-1473)aaA>aaG	p.K491K	SRP68_ENST00000539137.1_Silent_p.K453K|SRP68_ENST00000355113.5_Silent_p.K390K|SRP68_ENST00000602720.1_Silent_p.K152K|SRP68_ENST00000542536.2_5'UTR	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	491					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						CATTTGCATATTTCAGGACTC	0.488																																						ENST00000307877.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						c.(1471-1473)aaA>aaG		signal recognition particle 68kDa							107	97	100					17																	74039961		2203	4300	6503	SO:0001819	synonymous_variant	6730				response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	g.chr17:74039961T>C	AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"signal recognition particle 68kD"			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.1473A>G	17.37:g.74039961T>C						SRP68_ENST00000539137.1_Silent_p.K453K|SRP68_ENST00000355113.5_Silent_p.K390K|SRP68_ENST00000542536.2_5'UTR|SRP68_ENST00000602720.1_Silent_p.K152K	p.K491K	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN			13	1634	-			491					B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Silent	SNP	ENST00000307877.2	37	c.1473A>G	CCDS11738.1																																																																																				0.488	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230		12	28	0	0	0	1	0	12	28					C	74039961	T	C	74039961	2	2	36	1	0	0	0	0	0	0	0	1	15155	1490	52	3		3	SRP68	17	74039961	Silent	SNP	T	TCGA-BJ-A45D-01A-11D-A23U-08		74039961	7155249	8	985											
KIR3DL2	3812	broad.mit.edu	37	chr19	55378013	55378013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctcaggaggtgacgtacGcacagttggatcactgcgtt	12	11	2	1			TCGA-BJ-A45D-01A-11D-A23U-08	TCGA-BJ-A45D-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8e8f132-db25-43c9-a475-df9fdae46dce	0fb3fafc-65a4-4492-90eb-5f3c0238b58f	g.chr19:55378013G>A	ENST00000326321.3	+	9	1228	c.1195G>A	c.(1195-1197)Gca>Aca	p.A399T	KIR3DL2_ENST00000270442.5_Missense_Mutation_p.A382T|RNU6-222P_ENST00000362438.1_RNA|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.A399T	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	399					cellular defense response (GO:0006968)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GGTGACGTACGCACAGTTGGA	0.502																																						ENST00000326321.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23						c.(1195-1197)Gca>Aca		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2							279	265	269					19																	55378013		2203	4300	6503	SO:0001583	missense	3812				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	g.chr19:55378013G>A	L41270	CCDS12906.1, CCDS58677.1	19q13.4	2014-05-22			ENSG00000240403	ENSG00000240403		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6339	protein-coding gene	gene with protein product		604947				7716543, 8662091	Standard	NM_006737		Approved	cl-5, nkat4, nkat4a, nkat4b, CD158K	uc002qho.4	P43630	OTTHUMG00000065935	ENST00000326321.3:c.1195G>A	19.37:g.55378013G>A	ENSP00000325525:p.Ala399Thr					KIR3DL2_ENST00000270442.5_Missense_Mutation_p.A382T|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.A399T	p.A399T	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	9	1228	+			399					Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368	Missense_Mutation	SNP	ENST00000326321.3	37	c.1195G>A	CCDS12906.1	.	.	.	.	.	.	.	.	.	.	G	7.616	0.675865	0.14841	.	.	ENSG00000167633;ENSG00000240403;ENSG00000240403	ENST00000402254;ENST00000326321;ENST00000270442	T;T;T	0.00543	6.69;6.68;6.86	1.59	-1.52	0.08637	.	.	.	.	.	T	0.01092	0.0036	L	0.55103	1.725	0.09310	N	1	B;B;D	0.89917	0.006;0.032;1.0	B;B;D	0.83275	0.008;0.011;0.996	T	0.50491	-0.8822	9	0.72032	D	0.01	.	2.2086	0.03942	0.2087:0.0:0.4949:0.2964	.	382;399;399	Q95366;P43630;F6QF33	.;KI3L2_HUMAN;.	T	399;399;382	ENSP00000384528:A399T;ENSP00000325525:A399T;ENSP00000270442:A382T	ENSP00000384528:A399T	A	+	1	0	KIR3DL1;KIR3DL2	60069825	0.000000	0.05858	0.010000	0.14722	0.038000	0.13279	-0.409000	0.07160	-0.451000	0.07097	-0.515000	0.04445	GCA		0.502	KIR3DL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141241.1			12	246	0	0	0	1	0	12	246					A	55378013	G	A	55378013	3	1	36	1	0	0	0	0	1	0	0	0	8321	1087	38	1	1229	1	KIR3DL2	19	55378013	Missense_Mutation	SNP	G	TCGA-BJ-A45D-01A-11D-A23U-08		55378013	3750970	9	986											
OPRL1	4987	broad.mit.edu	37	chr20	62730072	62730072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgcgccgggacgtgcagGtgtctgaccgcgtgcgcagc	16	15	1	1			TCGA-BJ-A45D-01A-11D-A23U-08	TCGA-BJ-A45D-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8e8f132-db25-43c9-a475-df9fdae46dce	0fb3fafc-65a4-4492-90eb-5f3c0238b58f	g.chr20:62730072G>A	ENST00000349451.3	+	6	1445	c.1033G>A	c.(1033-1035)Gtg>Atg	p.V345M	OPRL1_ENST00000336866.2_Missense_Mutation_p.V345M|OPRL1_ENST00000355631.4_Missense_Mutation_p.V345M	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	345					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GGACGTGCAGGTGTCTGACCG	0.637																																						ENST00000349451.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19						c.(1033-1035)Gtg>Atg		opiate receptor-like 1							74	66	69					20																	62730072		2201	4298	6499	SO:0001583	missense	4987				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	g.chr20:62730072G>A		CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"GPCR / Class A : Opioid receptors"	8155	protein-coding gene	gene with protein product	"LC132 receptor-like", "orphanin FQ receptor", "kappa3-related opioid receptor"	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.1033G>A	20.37:g.62730072G>A	ENSP00000336764:p.Val345Met					OPRL1_ENST00000355631.4_Missense_Mutation_p.V345M|OPRL1_ENST00000336866.2_Missense_Mutation_p.V345M	p.V345M	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN			6	1445	+	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)		345					Q8TD34|Q8WYH9|Q9H4K4	Missense_Mutation	SNP	ENST00000349451.3	37	c.1033G>A	CCDS13556.1	.	.	.	.	.	.	.	.	.	.	G	6.385	0.439077	0.12104	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	T;T;T	0.64618	-0.11;-0.11;-0.11	5.12	2.0	0.26442	.	0.378221	0.28688	N	0.014468	T	0.33294	0.0858	N	0.08118	0	0.27570	N	0.949922	B;B	0.10296	0.003;0.001	B;B	0.09377	0.004;0.001	T	0.09662	-1.0664	10	0.37606	T	0.19	.	2.461	0.04541	0.3761:0.0:0.4107:0.2131	.	340;345	P41146-2;P41146	.;OPRX_HUMAN	M	345	ENSP00000336843:V345M;ENSP00000347848:V345M;ENSP00000336764:V345M	ENSP00000336843:V345M	V	+	1	0	OPRL1	62200516	1.000000	0.71417	0.830000	0.32933	0.019000	0.09904	0.995000	0.29706	0.512000	0.28257	-0.273000	0.10243	GTG		0.637	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647		23	55	0	0	0	1	0	23	55					A	62730072	G	A	62730072	3	1	36	1	0	0	0	0	1	0	0	0	10886	1261	44	2	1043	2	OPRL1	20	62730072	Missense_Mutation	SNP	G	TCGA-BJ-A45D-01A-11D-A23U-08		62730072	295448	10	987											
BAGE2	85319	broad.mit.edu	37	chr21	11058322	11058322	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtgcttacaaaatgcacatCgctgaaaggggtaaaggaga	12	6	0	2			TCGA-BJ-A45D-01A-11D-A23U-08	TCGA-BJ-A45D-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8e8f132-db25-43c9-a475-df9fdae46dce	e9c01424-61d6-4688-a647-3d289bfb6a72	g.chr21:11058322C>T	ENST00000470054.1	-	0	325							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATGCACATCGCTGAAAGGG	0.383																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							92	70	77					21																	11058322		692	1591	2283			85319							g.chr21:11058322C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"cancer/testis antigen family 2, member 2"					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058322C>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	325	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.383	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		9	97	0	0	0	1	0	9	97					T	11058322	C	T	11058322	1	4	36	0	1	0	0	0	0	0	0	0	1292	898	31	1		1	BAGE2	21	11058322	RNA	SNP	C	TCGA-BJ-A45D-01A-11D-A23U-08		11058322	37071573	11	988											
SAPS2	9701	broad.mit.edu	37	chr22	50876653	50876655	+	In_Frame_Del	DEL	TGA	TGA	-													agtgaccgcatccagcccttTgatgatgatgaggacgagga							TCGA-BJ-A45D-01A-11D-A23U-08	TCGA-BJ-A45D-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8e8f132-db25-43c9-a475-df9fdae46dce	0fb3fafc-65a4-4492-90eb-5f3c0238b58f	g.chr22:50876653_50876655delTGA	ENST00000216061.5	+	19	2260_2262	c.1890_1892delTGA	c.(1888-1893)tttgat>ttt	p.D633del	PPP6R2_ENST00000359139.3_In_Frame_Del_p.D606del|PPP6R2_ENST00000395744.3_In_Frame_Del_p.D606del|PPP6R2_ENST00000395741.3_In_Frame_Del_p.D607del			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	633			D -> E (in dbSNP:rs11555194).			cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						TCCAGCCCTTTGATGATGATGAG	0.616																																						ENST00000359139.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						c.(1807-1812)ttt>tt		protein phosphatase 6, regulatory subunit 2																																				SO:0001651	inframe_deletion	9701					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr22:50876653_50876655delTGA	AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	19253	protein-coding gene	gene with protein product		610877	"KIAA0685", "SAPS domain family, member 2"	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.1890_1892delTGA	22.37:g.50876662_50876664delTGA	ENSP00000216061:p.Asp633del					PPP6R2_ENST00000395741.3_In_Frame_Del_p.FD604del|PPP6R2_ENST00000395744.3_In_Frame_Del_p.FD603del|PPP6R2_ENST00000216061.5_In_Frame_Del_p.FD630del	p.FD603del	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN			17	2203_2205	+			630					A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	In_Frame_Del	DEL	ENST00000216061.5	37	c.1809_1811delTGA																																																																																					0.616	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678		55	93						55	93	---	---	---	---	-	50876655	TGA	-	50876653	7	5	36	1	0	1	0	1	0	0	0	0	13837	1809	63	0	1867	0	SAPS2	22	50876653	In_Frame_Del	DEL	TGA	TCGA-BJ-A45D-01A-11D-A23U-08		50876653	427913	12	989											
PGAM4	441531	broad.mit.edu	37	chrX	77224547	77224547	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcagagagaccctccaCatgcttggcaatgccctgga	9	14	2	2	rs148072662		TCGA-BJ-A45D-01A-11D-A23U-08	TCGA-BJ-A45D-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8e8f132-db25-43c9-a475-df9fdae46dce	0fb3fafc-65a4-4492-90eb-5f3c0238b58f	g.chrX:77224547C>G	ENST00000458128.1	-	1	588	c.589G>C	c.(589-591)Gtg>Ctg	p.V197L	ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000350425.4_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	197					glycolytic process (GO:0006096)|positive regulation of sperm motility (GO:1902093)	extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)			endometrium(2)|lung(4)	6						AGACCCTCCACATGCTTGGCA	0.507																																						ENST00000458128.1																			0				endometrium(2)|lung(4)	6						c.(589-591)Gtg>Ctg		phosphoglycerate mutase family member 4							117	109	112					X																	77224547		2203	4296	6499	SO:0001583	missense	441531				glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity	g.chrX:77224547C>G	AF465731	CCDS35338.1	Xq21.1	2011-02-09	2006-02-09		ENSG00000226784	ENSG00000226784			21731	protein-coding gene	gene with protein product		300567	"phosphoglycerate mutase family 4"			11961099, 9370262	Standard	NM_001029891		Approved	dJ1000K24.1, PGAM3, PGAM-B, PGAM1	uc004ecy.1	Q8N0Y7	OTTHUMG00000057865	ENST00000458128.1:c.589G>C	X.37:g.77224547C>G	ENSP00000412189:p.Val197Leu					ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000350425.4_Intron	p.V197L	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN			1	588	-			197					Q5JPN2|Q8NI24|Q8NI25|Q8NI26	Missense_Mutation	SNP	ENST00000458128.1	37	c.589G>C	CCDS35338.1	.	.	.	.	.	.	.	.	.	.	C	0.047	-1.261655	0.01445	.	.	ENSG00000226784	ENST00000458128	T	0.75050	-0.9	0.119	-0.238	0.13055	.	0.228496	0.30901	N	0.008654	T	0.12050	0.0293	N	0.00000	-4.07	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.54589	-0.8271	9	.	.	.	-28.907	2.1607	0.03824	0.0:0.3336:0.3399:0.3265	.	197	Q8N0Y7	PGAM4_HUMAN	L	197	ENSP00000412189:V197L	.	V	-	1	0	PGAM4	77111203	1.000000	0.71417	0.624000	0.29186	0.632000	0.37999	1.491000	0.35583	-1.166000	0.02783	-1.192000	0.01694	GTG		0.507	PGAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128371.2	NM_001029891		4	81	0	0	0	1	0	4	81					G	77224547	C	G	77224547	3	3	36	1	0	0	0	0	1	0	0	0	11775	478	17	4	179	4	PGAM4	23	77224547	Missense_Mutation	SNP	C	TCGA-BJ-A45D-01A-11D-A23U-08		77224547	78046013	13	990											
FLG	2312	broad.mit.edu	37	chr1	152286555	152286555	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttgacctgttcacttgAgatgatgatttgccatcaga	9	8	3	5			TCGA-BJ-A45E-01A-11D-A23U-08	TCGA-BJ-A45E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b22bf924-6c87-4ccc-ac51-bcd914c39163	c181d15b-c8ae-4d11-b57f-8de22eb27f81	g.chr1:152286555A>C	ENST00000368799.1	-	3	842	c.807T>G	c.(805-807)tcT>tcG	p.S269S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	269	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTTCACTTGAGATGATGATT	0.423									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(805-807)tcT>tcG		filaggrin							244	247	246					1																	152286555		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152286555A>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.807T>G	1.37:g.152286555A>C						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.S269S	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	842	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		269			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.807T>G	CCDS30860.1																																																																																				0.423	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		10	125	0	0	0	1	0	10	125					C	152286555	A	C	152286555	2	2	37	1	0	0	0	0	0	0	0	1	5922	291	11	5		5	FLG	1	152286555	Silent	SNP	A	TCGA-BJ-A45E-01A-11D-A23U-08		152286555	96964066	1	991											
PRG4	10216	broad.mit.edu	37	chr1	186276143	186276145	+	In_Frame_Del	DEL	CTC	CTC	-													caccaagtctgcacccaccaCtcccaaggagcctgcaccca							TCGA-BJ-A45E-01A-11D-A23U-08	TCGA-BJ-A45E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b22bf924-6c87-4ccc-ac51-bcd914c39163	c181d15b-c8ae-4d11-b57f-8de22eb27f81	g.chr1:186276143_186276145delCTC	ENST00000445192.2	+	7	1337_1339	c.1292_1294delCTC	c.(1291-1296)actccc>acc	p.P432del	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_In_Frame_Del_p.P389del|PRG4_ENST00000367483.4_In_Frame_Del_p.P391del|PRG4_ENST00000367485.4_In_Frame_Del_p.P339del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	432	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GCACCCACCACTCCCAAGGAGCC	0.655																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1291-1296)acc>a		proteoglycan 4																																				SO:0001651	inframe_deletion	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276143_186276145delCTC	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1292_1294delCTC	1.37:g.186276143_186276145delCTC	ENSP00000399679:p.Pro432del					PRG4_ENST00000367485.4_In_Frame_Del_p.TP338del|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_In_Frame_Del_p.TP390del|PRG4_ENST00000367486.3_In_Frame_Del_p.TP388del	p.TP431del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1337_1339	+			431			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	In_Frame_Del	DEL	ENST00000445192.2	37	c.1292_1294delCTC	CCDS1369.1																																																																																				0.655	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		10	109						10	109	---	---	---	---	-	186276145	CTC	-	186276143	7	5	37	1	0	1	0	1	0	0	0	0	12481	565	20	0	1314	0	PRG4	1	186276143	In_Frame_Del	DEL	CTC	TCGA-BJ-A45E-01A-11D-A23U-08	33989588	186276143	62974478	2	992											
RUNX2	860	broad.mit.edu	37	chr6	45390463	45390463	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacagcagcagcagcagcaGcaacagcagcagcagcagca	11	14	0	0			TCGA-BJ-A45E-01A-11D-A23U-08	TCGA-BJ-A45E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b22bf924-6c87-4ccc-ac51-bcd914c39163	c181d15b-c8ae-4d11-b57f-8de22eb27f81	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000371432.3_Silent_p.Q50Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(190-192)caG>caA		runt-related transcription factor 2							11	16	14					6																	45390463		1448	3096	4544	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390463G>A	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.192G>A	6.37:g.45390463G>A						RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q	p.Q64Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	550	+			64			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.192G>A	CCDS43467.2																																																																																				0.736	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		5	57	0	0	0	1	0	5	57					A	45390463	G	A	45390463	2	1	37	1	0	0	0	0	0	0	0	1	13748	962	34	2		2	RUNX2	6	45390463	Silent	SNP	G	TCGA-BJ-A45E-01A-11D-A23U-08		45390463	125724604	3	993											
VCPIP1	80124	broad.mit.edu	37	chr8	67579177	67579177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcaacggaggcggcggcGgcggcggctgagacatagct	20	11	0	1			TCGA-BJ-A45E-01A-11D-A23U-08	TCGA-BJ-A45E-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b22bf924-6c87-4ccc-ac51-bcd914c39163	d6d2a21b-6095-4ec9-8254-e5d2564aad50	g.chr8:67579177G>A	ENST00000310421.4	-	1	275	c.17C>T	c.(16-18)cCg>cTg	p.P6L	C8orf44_ENST00000519561.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	6	Pro-rich.				endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			aggcggcggcggcggcggcTG	0.697																																					NSCLC(179;265 2915 6144 43644)	ENST00000310421.4																			0				breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(16-18)cCg>cTg		valosin containing protein (p97)/p47 complex interacting protein 1							4	6	6					8																	67579177		1743	3670	5413	SO:0001583	missense	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67579177G>A	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"OTU domain containing"	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.17C>T	8.37:g.67579177G>A	ENSP00000309031:p.Pro6Leu						p.P6L	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	275	-		Lung NSC(129;0.142)|all_lung(136;0.227)	6			Pro-rich.		Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.17C>T	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532628	0.45073	.	.	ENSG00000175073	ENST00000310421	D	0.87179	-2.22	6.03	6.03	0.97812	.	0.562047	0.17447	N	0.173926	T	0.80979	0.4728	N	0.22421	0.69	0.51482	D	0.999929	B	0.10296	0.003	B	0.04013	0.001	T	0.75388	-0.3335	10	0.87932	D	0	-2.5929	14.9071	0.70727	0.0:0.0:0.8213:0.1787	.	6	Q96JH7	VCIP1_HUMAN	L	6	ENSP00000309031:P6L	ENSP00000309031:P6L	P	-	2	0	VCPIP1	67741731	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.524000	0.53495	2.861000	0.98227	0.655000	0.94253	CCG		0.697	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			12	17	0	0	0	1	0	12	17					A	67579177	G	A	67579177	3	1	37	1	0	0	0	0	1	0	0	0	17138	1116	39	1	3663	1	VCPIP1	8	67579177	Missense_Mutation	SNP	G	TCGA-BJ-A45E-01A-11D-A23U-08		67579177	78784845	4	994											
RBP3	5949	broad.mit.edu	37	chr10	48390034	48390034	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccccagggacctggacaCgggcaccgtgaagaagaagt	16	11	0	3			TCGA-BJ-A45E-01A-11D-A23U-08	TCGA-BJ-A45E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b22bf924-6c87-4ccc-ac51-bcd914c39163	c181d15b-c8ae-4d11-b57f-8de22eb27f81	g.chr10:48390034C>T	ENST00000224600.4	-	1	957	c.844G>A	c.(844-846)Gtg>Atg	p.V282M	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	282	4 X approximate tandem repeats.		V -> M. {ECO:0000269|PubMed:19074801}.		lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GACCTGGACACGGGCACCGTG	0.697																																						ENST00000224600.4																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(844-846)Gtg>Atg		retinol binding protein 3, interstitial	Vitamin A(DB00162)						26	24	25					10																	48390034		2202	4300	6502	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48390034C>T	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"retinol-binding protein 3, interstitial"				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.844G>A	10.37:g.48390034C>T	ENSP00000224600:p.Val282Met						p.V282M	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	957	-			282			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.844G>A	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.085598	0.55861	.	.	ENSG00000107618	ENST00000224600	T	0.65732	-0.17	5.56	5.56	0.83823	Interphotoreceptor retinol-binding (2);	0.242826	0.42548	D	0.000695	T	0.81669	0.4871	M	0.83774	2.66	0.45747	D	0.99864	D	0.89917	1.0	D	0.91635	0.999	D	0.83964	0.0323	10	0.87932	D	0	-35.7589	18.5233	0.90962	0.0:1.0:0.0:0.0	.	282	P10745	RET3_HUMAN	M	282	ENSP00000224600:V282M	ENSP00000224600:V282M	V	-	1	0	RBP3	48010040	0.986000	0.35501	0.959000	0.39883	0.652000	0.38707	2.801000	0.47908	2.640000	0.89533	0.655000	0.94253	GTG		0.697	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		4	46	0	0	0	1	0	4	46					T	48390034	C	T	48390034	3	4	37	1	0	0	0	0	1	0	0	0	13157	536	19	1	2915	1	RBP3	10	48390034	Missense_Mutation	SNP	C	TCGA-BJ-A45E-01A-11D-A23U-08		48390034	87144713	5	995											
ITGB7	3695	broad.mit.edu	37	chr12	53586181	53586181	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaccaagaagaagaacagCtggttgtccagggtccgctc	11	12	0	3			TCGA-BJ-A45E-01A-11D-A23U-08	TCGA-BJ-A45E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b22bf924-6c87-4ccc-ac51-bcd914c39163	c181d15b-c8ae-4d11-b57f-8de22eb27f81	g.chr12:53586181C>T	ENST00000267082.5	-	14	2319	c.2088G>A	c.(2086-2088)caG>caA	p.Q696Q	ITGB7_ENST00000338737.4_Silent_p.Q548Q|ITGB7_ENST00000550743.2_Silent_p.Q548Q|ITGB7_ENST00000422257.3_Silent_p.Q696Q	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	696					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGAAGAACAGCTGGTTGTCCA	0.567																																						ENST00000267082.5																			0				NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2086-2088)caG>caA		integrin, beta 7							140	125	130					12																	53586181		2203	4300	6503	SO:0001819	synonymous_variant	3695				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity	g.chr12:53586181C>T		CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"Integrins"	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.2088G>A	12.37:g.53586181C>T						ITGB7_ENST00000338737.4_Silent_p.Q548Q|ITGB7_ENST00000550743.2_Silent_p.Q548Q|ITGB7_ENST00000422257.3_Silent_p.Q696Q	p.Q696Q	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN			14	2319	-			696					Q9UCP7|Q9UCS7	Silent	SNP	ENST00000267082.5	37	c.2088G>A	CCDS8849.1																																																																																				0.567	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405821.2			13	81	0	0	0	1	0	13	81					T	53586181	C	T	53586181	2	4	37	1	0	0	0	0	0	0	0	1	7900	796	28	2		2	ITGB7	12	53586181	Silent	SNP	C	TCGA-BJ-A45E-01A-11D-A23U-08		53586181	80265714	6	996											
FAM101A	144347	broad.mit.edu	37	chr12	124798816	124798816	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcccgtacccaccgtcacGgcctacagcgagaccatcgt	10	18	1	1	rs77570261	byFrequency	TCGA-BJ-A45E-01A-11D-A23U-08	TCGA-BJ-A45E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b22bf924-6c87-4ccc-ac51-bcd914c39163	c181d15b-c8ae-4d11-b57f-8de22eb27f81	g.chr12:124798816G>A	ENST00000389727.3	+	3	396	c.396G>A	c.(394-396)acG>acA	p.T132T	FAM101A_ENST00000338359.4_Silent_p.T51T|FAM101A_ENST00000324038.3_Silent_p.T51T|FAM101A_ENST00000546355.1_Silent_p.T51T			Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	132										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		CCACCGTCACGGCCTACAGCG	0.642													G|||	7	0.00139776	0	0	5008	,	,		19308	0.0069		0	False		,,,				2504	0					ENST00000389727.3																			0				endometrium(1)|kidney(1)|lung(1)	3						c.(394-396)acG>acA		family with sequence similarity 101, member A							96	83	88					12																	124798816		2203	4300	6503	SO:0001819	synonymous_variant	144347							g.chr12:124798816G>A		CCDS9258.1	12q24.31	2012-11-30			ENSG00000178882	ENSG00000178882			27051	protein-coding gene	gene with protein product		615927				12477932	Standard	NM_181709		Approved	FLJ44614	uc001ugd.2	Q6ZTI6	OTTHUMG00000168609	ENST00000389727.3:c.396G>A	12.37:g.124798816G>A						FAM101A_ENST00000546355.1_Silent_p.T51T|FAM101A_ENST00000324038.3_Silent_p.T51T|FAM101A_ENST00000338359.4_Silent_p.T51T	p.T132T			Q6ZTI6	F101A_HUMAN		Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)	3	396	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		132					A5D8T5	Silent	SNP	ENST00000389727.3	37	c.396G>A																																																																																					0.642	FAM101A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_181709		17	147	0	0	0	1	0	17	147					A	124798816	G	A	124798816	2	1	37	1	0	0	0	0	0	0	0	1	5380	1103	39	1		1	FAM101A	12	124798816	Silent	SNP	G	TCGA-BJ-A45E-01A-11D-A23U-08	71212635	124798816	9053079	7	997											
ACOT1	641371	broad.mit.edu	37	chr14	74008372	74008372	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggagtactttgaagaagcTgtgaactacttgctcagtca	10	8	2	3	rs371750964	byFrequency	TCGA-BJ-A45E-01A-11D-A23U-08	TCGA-BJ-A45E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b22bf924-6c87-4ccc-ac51-bcd914c39163	c181d15b-c8ae-4d11-b57f-8de22eb27f81	g.chr14:74008372T>C	ENST00000311148.4	+	2	941	c.633T>C	c.(631-633)gcT>gcC	p.A211A	HEATR4_ENST00000560393.1_Intron|HEATR4_ENST00000334988.2_Intron|ACOT1_ENST00000557556.1_Silent_p.A211A|HEATR4_ENST00000553558.1_Intron	NM_001037161.1	NP_001032238.1	Q86TX2	ACOT1_HUMAN	acyl-CoA thioesterase 1	211					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(1)|large_intestine(1)|lung(2)	4				OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)		TTGAAGAAGCTGTGAACTACT	0.458													-|||	65	0.0129792	0.0257	0.0115	5008	,	,		10110	0.002		0.0139	False		,,,				2504	0.0072					ENST00000311148.4																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(631-633)gcT>gcC		acyl-CoA thioesterase 1																																				SO:0001819	synonymous_variant	641371							g.chr14:74008372T>C	DQ082754	CCDS32117.1	14q24.3	2013-09-20			ENSG00000184227	ENSG00000184227		"Acyl CoA thioesterases"	33128	protein-coding gene	gene with protein product		614313				16103133, 16940157	Standard	NM_001037161		Approved	ACH2, CTE-1, LACH2		Q86TX2	OTTHUMG00000171607	ENST00000311148.4:c.633T>C	14.37:g.74008372T>C						HEATR4_ENST00000334988.2_Intron|HEATR4_ENST00000560393.1_Intron|HEATR4_ENST00000553558.1_Intron|ACOT1_ENST00000557556.1_Silent_p.A211A	p.A211A	NM_001037161.1	NP_001032238.1				OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)	2	941	+								A1L173|Q3I5F9	Silent	SNP	ENST00000311148.4	37	c.633T>C	CCDS32117.1																																																																																				0.458	ACOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414432.1	NM_001037161		4	47	0	0	0	1	0	4	47					C	74008372	T	C	74008372	2	2	37	1	0	0	0	0	0	0	0	1	148	1567	55	3		3	ACOT1	14	74008372	Silent	SNP	T	TCGA-BJ-A45E-01A-11D-A23U-08		74008372	33341168	8	998											
CABYR	26256	broad.mit.edu	37	chr18	21736278	21736278	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caggatgaacaagaacctccTgcttatgatcaagctcctga	8	11	1	4	rs150107485	byFrequency	TCGA-BJ-A45E-01A-11D-A23U-08	TCGA-BJ-A45E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b22bf924-6c87-4ccc-ac51-bcd914c39163	c181d15b-c8ae-4d11-b57f-8de22eb27f81	g.chr18:21736278T>A	ENST00000399481.2	+	2	671	c.519T>A	c.(517-519)ccT>ccA	p.P173P	CABYR_ENST00000399499.1_Intron|CABYR_ENST00000415309.2_Intron|CABYR_ENST00000327201.6_Intron|CABYR_ENST00000581397.1_Intron|CABYR_ENST00000399496.3_Intron			O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	271					epithelial cilium movement (GO:0003351)|sperm capacitation (GO:0048240)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					AAGAACCTCCTGCTTATGATC	0.438													T|||	8	0.00159744	0	0.0058	5008	,	,		22315	0		0.003	False		,,,				2504	0.001					ENST00000399481.2																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11						c.(517-519)ccT>ccA		calcium binding tyrosine-(Y)-phosphorylation regulated		T	,,,,,	2,4404	4.2+/-10.8	0,2,2201	84	78	80		813,,,759,,	4.8	1.0	18	dbSNP_134	80	19,8581	14.0+/-48.4	0,19,4281	no	coding-synonymous,intron,intron,coding-synonymous,intron,intron	CABYR	NM_012189.2,NM_138643.1,NM_138644.1,NM_153768.1,NM_153769.1,NM_153770.1	,,,,,	0,21,6482	AA,AT,TT		0.2209,0.0454,0.1615	,,,,,	271/494,,,253/476,,	21736278	21,12985	2203	4300	6503	SO:0001819	synonymous_variant	26256				ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding	g.chr18:21736278T>A	AF088868	CCDS11881.1, CCDS11882.1, CCDS11883.1, CCDS42420.1, CCDS45840.1	18q11.2	2009-08-06	2007-11-22		ENSG00000154040	ENSG00000154040			15569	protein-coding gene	gene with protein product	"fibrousheathin 2", "cancer/testis antigen 88"	612135				11820818, 17317841, 16139264	Standard	NM_012189		Approved	FSP-2, CBP86, CT88	uc002kux.3	O75952	OTTHUMG00000037365	ENST00000399481.2:c.519T>A	18.37:g.21736278T>A						CABYR_ENST00000399499.1_Intron|CABYR_ENST00000581397.1_Intron|CABYR_ENST00000327201.6_Intron|CABYR_ENST00000415309.2_Intron|CABYR_ENST00000399496.3_Intron	p.P173P			O75952	CABYR_HUMAN			2	671	+	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)		271					B2R857|Q8WXW5|Q9HAY3|Q9HAY4|Q9HAY5|Q9HCY9	Silent	SNP	ENST00000399481.2	37	c.519T>A																																																																																					0.438	CABYR-201	KNOWN	basic	protein_coding	protein_coding		NM_153770		4	37	0	0	0	1	0	4	37					A	21736278	T	A	21736278	2	1	37	1	0	0	0	0	0	0	0	1	2536	1567	55	5		5	CABYR	18	21736278	Silent	SNP	T	TCGA-BJ-A45E-01A-11D-A23U-08		21736278	56340970	9	999											
ZNF335	63925	broad.mit.edu	37	chr20	44578157	44578157	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttcagggaccacaacataTtcctgggggagcaggtgctg	13	11	1	0			TCGA-BJ-A45E-01A-11D-A23U-08	TCGA-BJ-A45E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b22bf924-6c87-4ccc-ac51-bcd914c39163	c181d15b-c8ae-4d11-b57f-8de22eb27f81	g.chr20:44578157T>C	ENST00000322927.2	-	25	3820	c.3720A>G	c.(3718-3720)gaA>gaG	p.E1240E	ZNF335_ENST00000426788.1_Silent_p.E1085E	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1240	Gln-rich.				brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CCACAACATATTCCTGGGGGA	0.612																																						ENST00000322927.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(3718-3720)gaA>gaG		zinc finger protein 335							53	41	45					20																	44578157		2203	4300	6503	SO:0001819	synonymous_variant	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44578157T>C	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"Zinc fingers, C2H2-type"	15807	protein-coding gene	gene with protein product	"NRC-interacting factor 1"	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.3720A>G	20.37:g.44578157T>C						ZNF335_ENST00000426788.1_Silent_p.E1085E	p.E1240E	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN			25	3820	-		Myeloproliferative disorder(115;0.0122)	1240			Gln-rich.		B4DLG7|Q548D0|Q9H684	Silent	SNP	ENST00000322927.2	37	c.3720A>G	CCDS13389.1																																																																																				0.612	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		4	21	0	0	0	1	0	4	21					C	44578157	T	C	44578157	2	2	37	1	0	0	0	0	0	0	0	1	17849	1490	52	3		3	ZNF335	20	44578157	Silent	SNP	T	TCGA-BJ-A45E-01A-11D-A23U-08		44578157	18447363	10	1000											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290	byFrequency	TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	4f280fa7-808c-445d-b173-cb9c2d2f3a96	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		neuroblastoma RAS viral (v-ras) oncogene homolog							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		31	46	0	0	0	1	0	31	46					C	115256529	T	C	115256529	3	2	38	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-BJ-A45F-01A-12D-A23U-08		115256529	133994092	1	1001											
PCDHA6	56142	broad.mit.edu	37	chr5	140209392	140209392	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggcgcctcgggtgggtggTactggtggtgcagtgagcga	20	8	0	1	rs146736705	byFrequency	TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	4f280fa7-808c-445d-b173-cb9c2d2f3a96	g.chr5:140209392T>C	ENST00000529310.1	+	1	1830	c.1716T>C	c.(1714-1716)ggT>ggC	p.G572G	PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	572					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTGGGTGGTACTGGTGGTG	0.687													.|||	9	0.00179712	0	0.0072	5008	,	,		16079	0		0.004	False		,,,				2504	0					ENST00000529310.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1714-1716)ggT>ggC				T	,,,,,,,,	3,4403	8.1+/-20.4	0,3,2200	74	78	77		,,,,,1716,,1716,	-7.4	0.0	5	dbSNP_134	77	34,8564	23.4+/-69.3	0,34,4265	no	intron,intron,intron,intron,intron,coding-synonymous,intron,coding-synonymous,intron	PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_031411.1,NM_031848.1,NM_031849.1	,,,,,,,,	0,37,6465	CC,CT,TT		0.3954,0.0681,0.2845	,,,,,,,,	,,,,,572/951,,572/804,	140209392	37,12967	2203	4299	6502	SO:0001819	synonymous_variant	0							g.chr5:140209392T>C	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	8672	other	complex locus constituent	"KIAA0345-like 8"	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1716T>C	5.37:g.140209392T>C						PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron	p.G572G	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1830	+								O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.1716T>C	CCDS47281.1																																																																																				0.687	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		6	100	0	0	0	1	0	6	100					C	140209392	T	C	140209392	2	2	38	1	0	0	0	0	0	0	0	1	11528	1625	57	3		3	PCDHA6	5	140209392	Silent	SNP	T	TCGA-BJ-A45F-01A-12D-A23U-08		140209392	40705868	2	1002											
EEF1A1	1915	broad.mit.edu	37	chr6	74228523	74228523	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaagcagcgtggttccacTggcattgccatccttacggg	11	13	1	0			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	4f280fa7-808c-445d-b173-cb9c2d2f3a96	g.chr6:74228523T>C	ENST00000316292.9	-	4	1661	c.670A>G	c.(670-672)Agt>Ggt	p.S224G	EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Missense_Mutation_p.S224G|EEF1A1_ENST00000309268.6_Missense_Mutation_p.S224G	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	224	tr-type G.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GTGGTTCCACTGGCATTGCCA	0.517											OREG0003891|OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000316292.9																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						c.(670-672)Agt>Ggt		eukaryotic translation elongation factor 1 alpha 1							105	97	99					6																	74228523		2203	4297	6500	SO:0001583	missense	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74228523T>C	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"leukocyte receptor cluster (LRC) member 7"	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.670A>G	6.37:g.74228523T>C	ENSP00000339063:p.Ser224Gly		OREG0003891|OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1151	EEF1A1_ENST00000309268.6_Missense_Mutation_p.S224G|EEF1A1_ENST00000331523.2_Missense_Mutation_p.S224G|EEF1A1_ENST00000491404.1_Intron	p.S224G	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN			4	1661	-			224					P04719|P04720|Q6IQ15	Missense_Mutation	SNP	ENST00000316292.9	37	c.670A>G	CCDS4980.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.177470	0.38413	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977	T;T;T	0.46063	0.88;0.88;0.88	4.31	4.31	0.51392	Protein synthesis factor, GTP-binding (2);	0.264000	0.36374	U	0.002624	T	0.18964	0.0455	L	0.31664	0.95	0.53005	D	0.99996	B;B;B;B	0.09022	0.001;0.002;0.001;0.002	B;B;B;B	0.06405	0.001;0.001;0.001;0.002	T	0.09037	-1.0693	10	0.62326	D	0.03	.	13.8286	0.63366	0.0:0.0:0.0:1.0	.	224;224;224;224	P68104;Q53HR5;Q6IPS9;Q5VTE0	EF1A1_HUMAN;.;.;EF1A3_HUMAN	G	224;224;224;224;203	ENSP00000339063:S224G;ENSP00000339053:S224G;ENSP00000330054:S224G	ENSP00000339053:S224G	S	-	1	0	EEF1A1	74285244	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.725000	0.54970	1.719000	0.51432	0.449000	0.29647	AGT		0.517	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		17	24	0	0	0	1	0	17	24					C	74228523	T	C	74228523	3	2	38	1	0	0	0	0	1	0	0	0	4923	1580	55	3	734	3	EEF1A1	6	74228523	Missense_Mutation	SNP	T	TCGA-BJ-A45F-01A-12D-A23U-08		74228523	96886544	3	1003											
ZMIZ2	83637	broad.mit.edu	37	chr7	44801338	44801338	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctaccaccacgaggaccGgcagatgaacaccaactggc	11	14	0	2			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	4f280fa7-808c-445d-b173-cb9c2d2f3a96	g.chr7:44801338G>A	ENST00000309315.4	+	11	1553	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q	ZMIZ2_ENST00000265346.7_Missense_Mutation_p.R451Q|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.R419Q|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.R477Q|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.R445Q	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	477	Interaction with AR.				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						CACGAGGACCGGCAGATGAAC	0.612																																					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.(1429-1431)cGg>cAg		zinc finger, MIZ-type containing 2							57	61	60					7																	44801338		2203	4300	6503	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.chr7:44801338G>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.1430G>A	7.37:g.44801338G>A	ENSP00000311778:p.Arg477Gln					ZMIZ2_ENST00000441627.1_Missense_Mutation_p.R477Q|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.R445Q|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.R419Q|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.R451Q	p.R477Q	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN			11	1553	+			477			Interaction with AR.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	ENST00000309315.4	37	c.1430G>A	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	G	37	6.209731	0.97380	.	.	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	4.73	4.73	0.59995	.	0.000000	0.56097	D	0.000039	T	0.63954	0.2555	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.987;0.966;0.987	T	0.64659	-0.6355	10	0.44086	T	0.13	-16.8339	17.4928	0.87709	0.0:0.0:1.0:0.0	.	451;477;419	Q8NF64-2;Q8NF64;Q8NF64-3	.;ZMIZ2_HUMAN;.	Q	419;477;477;445;451;477	ENSP00000409648:R419Q;ENSP00000311778:R477Q;ENSP00000414723:R477Q;ENSP00000396601:R445Q;ENSP00000265346:R451Q	ENSP00000265346:R451Q	R	+	2	0	ZMIZ2	44767863	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.131000	0.94446	2.444000	0.82710	0.655000	0.94253	CGG		0.612	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		16	17	0	0	0	1	0	16	17					A	44801338	G	A	44801338	3	1	38	1	0	0	0	0	1	0	0	0	17694	1116	39	1	1468	1	ZMIZ2	7	44801338	Missense_Mutation	SNP	G	TCGA-BJ-A45F-01A-12D-A23U-08		44801338	114337325	4	1004											
CACNA2D1	781	broad.mit.edu	37	chr7	81596976	81596977	+	Frame_Shift_Del	DEL	AC	AC	-													ttacatcaattttaattccaAcaactgaaaaattaatttga							TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	4f280fa7-808c-445d-b173-cb9c2d2f3a96	g.chr7:81596976_81596977delAC	ENST00000356253.5	-	30	2689_2690	c.2434_2435delGT	c.(2434-2436)gttfs	p.V812fs	CACNA2D1_ENST00000356860.3_Frame_Shift_Del_p.V800fs|CACNA2D1_ENST00000535308.1_Frame_Shift_Del_p.V12fs			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	812					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TTTAATTCCAACAACTGAAAAA	0.262																																						ENST00000356860.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2398-2400)tfs		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)																																			SO:0001589	frameshift_variant	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81596976_81596977delAC	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2434_2435delGT	7.37:g.81596976_81596977delAC	ENSP00000348589:p.Val812fs					CACNA2D1_ENST00000535308.1_Frame_Shift_Del_p.V12fs|CACNA2D1_ENST00000356253.5_Frame_Shift_Del_p.V812fs	p.V800fs	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			30	2736_2737	-			812					Q17R45|Q9UD80|Q9UD81|Q9UD82	Frame_Shift_Del	DEL	ENST00000356253.5	37	c.2398_2399delGT																																																																																					0.262	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				2	4						2	4	---	---	---	---	-	81596977	AC	-	81596976	7	5	38	1	0	1	0	1	0	0	0	0	2548	43	2	0	916	0	CACNA2D1	7	81596976	Frame_Shift_Del	DEL	AC	TCGA-BJ-A45F-01A-12D-A23U-08	36795638	81596976	77541687	5	1005											
TG	7038	broad.mit.edu	37	chr8	133919035	133919035	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctgccatgcagcagtgccAattgctgtgccgccagggct	12	14	1	0			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	4f280fa7-808c-445d-b173-cb9c2d2f3a96	g.chr8:133919035A>C	ENST00000220616.4	+	17	3777	c.3737A>C	c.(3736-3738)cAa>cCa	p.Q1246P	TG_ENST00000377869.1_Missense_Mutation_p.Q1246P	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1246					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAGCAGTGCCAATTGCTGTGC	0.632																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(3736-3738)cAa>cCa		thyroglobulin							65	56	59					8																	133919035		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133919035A>C	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.3737A>C	8.37:g.133919035A>C	ENSP00000220616:p.Gln1246Pro					TG_ENST00000377869.1_Missense_Mutation_p.Q1246P	p.Q1246P	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	17	3777	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1246					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.3737A>C	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.899|9.899	1.206274|1.206274	0.22205|0.22205	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000518505|ENST00000377869;ENST00000543313;ENST00000220616	.|T;T	.|0.65549	.|-0.16;-0.15	5.48|5.48	-4.43|-4.43	0.03568|0.03568	.|.	.|0.542430	.|0.17260	.|N	.|0.180827	T|T	0.46964|0.46964	0.1420|0.1420	L|L	0.59436|0.59436	1.845|1.845	0.24681|0.24681	N|N	0.99337|0.99337	.|P	.|0.37955	.|0.612	.|B	.|0.34722	.|0.188	T|T	0.42464|0.42464	-0.9450|-0.9450	5|10	.|0.87932	.|D	.|0	.|.	4.713|4.713	0.12882|0.12882	0.3416:0.0:0.3927:0.2657|0.3416:0.0:0.3927:0.2657	.|.	.|1246	.|P01266	.|THYG_HUMAN	H|P	190|1246;52;1246	.|ENSP00000367100:Q1246P;ENSP00000220616:Q1246P	.|ENSP00000220616:Q1246P	N|Q	+|+	1|2	0|0	TG|TG	133988217|133988217	0.054000|0.054000	0.20591|0.20591	0.872000|0.872000	0.34217|0.34217	0.033000|0.033000	0.12548|0.12548	-0.627000|-0.627000	0.05521|0.05521	-0.851000|-0.851000	0.04147|0.04147	-1.054000|-1.054000	0.02325|0.02325	AAT|CAA		0.632	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		10	28	0	0	0	1	0	10	28					C	133919035	A	C	133919035	3	2	38	1	0	0	0	0	1	0	0	0	15810	130	5	5	3803	5	TG	8	133919035	Missense_Mutation	SNP	A	TCGA-BJ-A45F-01A-12D-A23U-08		133919035	12444987	6	1006											
EMG1	10436	broad.mit.edu	37	chr12	7080212	7080213	+	Splice_Site	INS	-	-	C													acaagatcggaggccgtagtINSttattgtggtgctggaaggg					rs11428482|rs374779752|rs17857448		TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	4f280fa7-808c-445d-b173-cb9c2d2f3a96	g.chr12:7080212_7080213insC	ENST00000261406.6	+	2	267_268	c.124_125insC	c.(124-126)ttt>tCtt	p.F42fs	PHB2_ENST00000542912.1_5'Flank|PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000535923.1_5'Flank|PHB2_ENST00000546111.1_5'Flank|PHB2_ENST00000544134.1_5'Flank|EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000399433.2_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		GAGGCCGTAGTTTATTGTGGTG	0.569																																						ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3746,4		1873,0,2						5.4	1.0		dbSNP_120	28	7902,2		3951,0,1	no	frameshift	EMG1	NM_006331.7		5824,0,3	A1A1,A1R,RR		0.0253,0.1067,0.0515				11648,6				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080212_7080213insC	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"EMG1 nucleolar protein homolog (S. cerevisiae)"			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->C	12.37:g.7080212_7080213insC						U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA				Q92979	NEP1_HUMAN			0	157_158	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Frame_Shift_Ins	9	2						9	2	---	---	---	---	C	7080213	-	C	7080212	8	5	38	1	0	1	1	0	0	0	1	0	5090	1722	60	0	128	0	EMG1	12	7080212	Splice_Site	INS	-	TCGA-BJ-A45F-01A-12D-A23U-08		7080212	126771683	7	1007											
GRAMD2	196996	broad.mit.edu	37	chr15	72454662	72454662	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggagcataactgctgcTctagccgagaaatacggaac	10	10	2	1			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	4f280fa7-808c-445d-b173-cb9c2d2f3a96	g.chr15:72454662T>C	ENST00000309731.7	-	11	1026	c.1013A>G	c.(1012-1014)gAg>gGg	p.E338G	GRAMD2_ENST00000564184.1_5'Flank	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	338						integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						TAACTGCTGCTCTAGCCGAGA	0.488																																						ENST00000309731.7																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(1012-1014)gAg>gGg		GRAM domain containing 2							87	80	83					15																	72454662		2199	4297	6496	SO:0001583	missense	196996					integral to membrane		g.chr15:72454662T>C	AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03					27287	protein-coding gene	gene with protein product						12477932	Standard	NM_001012642		Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.1013A>G	15.37:g.72454662T>C	ENSP00000311657:p.Glu338Gly						p.E338G	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN			11	1026	-			338					B3KT68	Missense_Mutation	SNP	ENST00000309731.7	37	c.1013A>G	CCDS32283.1	.	.	.	.	.	.	.	.	.	.	T	19.65	3.866427	0.72065	.	.	ENSG00000175318	ENST00000309731	T	0.69040	-0.37	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.78710	0.4326	L	0.61218	1.895	0.51482	D	0.999923	D	0.89917	1.0	D	0.87578	0.998	T	0.80913	-0.1170	10	0.87932	D	0	.	12.5847	0.56410	0.0:0.0:0.0:1.0	.	338	Q8IUY3	GRAM2_HUMAN	G	338	ENSP00000311657:E338G	ENSP00000311657:E338G	E	-	2	0	GRAMD2	70241716	1.000000	0.71417	0.956000	0.39512	0.435000	0.31806	6.284000	0.72652	1.983000	0.57843	0.460000	0.39030	GAG		0.488	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420040.1	NM_001012642		11	33	0	0	0	1	0	11	33					C	72454662	T	C	72454662	3	2	38	1	0	0	0	0	1	0	0	0	6750	1551	54	3	59	3	GRAMD2	15	72454662	Missense_Mutation	SNP	T	TCGA-BJ-A45F-01A-12D-A23U-08		72454662	30076730	8	1008											
PHLPP2	23035	broad.mit.edu	37	chr16	71682911	71682911	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacttcttcttccaggtcaTgaggcacaacaaactggtcc	7	13	4	1	rs149705576		TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	4f280fa7-808c-445d-b173-cb9c2d2f3a96	g.chr16:71682911T>C	ENST00000568954.1	-	19	4232	c.3854A>G	c.(3853-3855)cAt>cGt	p.H1285R	PHLPP2_ENST00000393524.2_Missense_Mutation_p.H1218R|PHLPP2_ENST00000567016.1_Missense_Mutation_p.H1320R|PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000356272.3_Missense_Mutation_p.H1285R			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	1285					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TTCCAGGTCATGAGGCACAAC	0.552																																						ENST00000393524.2																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(3652-3654)cAt>cGt		PH domain and leucine rich repeat protein phosphatase 2		T	ARG/HIS	0,4396		0,0,2198	106	96	99		3854	4.1	1.0	16	dbSNP_134	99	1,8599	1.2+/-3.3	0,1,4299	no	missense	PHLPP2	NM_015020.2	29	0,1,6497	CC,CT,TT		0.0116,0.0,0.0077	benign	1285/1324	71682911	1,12995	2198	4300	6498	SO:0001583	missense	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71682911T>C	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	29149	protein-coding gene	gene with protein product		611066	"PH domain and leucine rich repeat protein phosphatase-like"	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.3854A>G	16.37:g.71682911T>C	ENSP00000457991:p.His1285Arg					PHLPP2_ENST00000568954.1_Missense_Mutation_p.H1285R|PHLPP2_ENST00000567016.1_Missense_Mutation_p.H1320R|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000356272.3_Missense_Mutation_p.H1285R|PHLPP2_ENST00000540628.1_Intron	p.H1218R			Q6ZVD8	PHLP2_HUMAN			17	4386	-			1285					A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	c.3653A>G	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	t	1.818	-0.473037	0.04445	0.0	1.16E-4	ENSG00000040199	ENST00000356272;ENST00000393524	T;T	0.39787	1.6;1.06	6.17	4.07	0.47477	.	0.203454	0.52532	N	0.000073	T	0.21062	0.0507	N	0.16478	0.41	0.22199	N	0.999296	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.13361	-1.0512	10	0.14656	T	0.56	-11.2858	5.0812	0.14656	0.0:0.491:0.3004:0.2086	.	1218;1285	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	R	1285;1218	ENSP00000348611:H1285R;ENSP00000377159:H1218R	ENSP00000348611:H1285R	H	-	2	0	PHLPP2	70240412	0.999000	0.42202	1.000000	0.80357	0.892000	0.51952	2.880000	0.48530	1.631000	0.50456	-0.140000	0.14226	CAT		0.552	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		5	51	0	0	0	1	0	5	51					C	71682911	T	C	71682911	3	2	38	1	0	0	0	0	1	0	0	0	11855	1464	51	3	121	3	PHLPP2	16	71682911	Missense_Mutation	SNP	T	TCGA-BJ-A45F-01A-12D-A23U-08		71682911	18671842	9	1009											
CYTSB	92521	broad.mit.edu	37	chr17	20013740	20013740	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttccttccaactctctcagCtcaagagggccagcagtgag	9	13	3	2			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	4f280fa7-808c-445d-b173-cb9c2d2f3a96	g.chr17:20013740C>A	ENST00000261503.5	+	3	199	c.148C>A	c.(148-150)Ctc>Atc	p.L50I	SPECC1_ENST00000395527.4_Splice_Site_p.L50I|SPECC1_ENST00000395529.3_Splice_Site_p.L50I|SPECC1_ENST00000472876.1_Intron	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	50					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		ACTCTCTCAGCTCAAGAGGGC	0.572																																						ENST00000395529.3																			0				breast(1)|large_intestine(3)|ovary(4)	8						c.e3-1		sperm antigen with calponin homology and coiled-coil domains 1							90	92	92					17																	20013740		2203	4300	6503	SO:0001630	splice_region_variant	92521					nucleus		g.chr17:20013740C>A	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"sperm antigen HCMOGT 1", "cytokinesis and spindle organization B", "cytospin B"	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.148-1C>A	17.37:g.20013740C>A						SPECC1_ENST00000261503.5_Splice_Site_p.L50_splice|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395527.4_Splice_Site_p.L50_splice	p.L50_splice	NM_152904.4	NP_690868.3	Q5M775	CYTSB_HUMAN		KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)	3	200	+			50					B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Splice_Site	SNP	ENST00000261503.5	37	c.147_splice	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.284741	0.59867	.	.	ENSG00000128487	ENST00000395530;ENST00000413167;ENST00000261503;ENST00000395529	T;T	0.65916	-0.18;2.8	5.29	5.29	0.74685	.	0.092570	0.44688	D	0.000425	T	0.72732	0.3497	L	0.43152	1.355	0.80722	D	1	D;P	0.71674	0.998;0.825	D;B	0.83275	0.996;0.299	T	0.70004	-0.4991	9	.	.	.	-12.3568	16.802	0.85617	0.0:1.0:0.0:0.0	.	50;50	Q5M775-2;Q5M775	.;CYTSB_HUMAN	I	50	ENSP00000261503:L50I;ENSP00000378900:L50I	.	L	+	1	0	SPECC1	19954332	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	4.763000	0.62257	2.647000	0.89833	0.655000	0.94253	CTC		0.572	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904	Missense_Mutation	17	51	1	0	1.33834e-09	1	1.44129e-09	17	51					A	20013740	C	A	20013740	5	1	38	1	0	0	0	0	0	0	1	0	4210	811	28	4	154	4	CYTSB	17	20013740	Splice_Site	SNP	C	TCGA-BJ-A45F-01A-12D-A23U-08		20013740	61181470	10	1010											
FUT3	2525	broad.mit.edu	37	chr19	5844400	5844400	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catggtgagattgaagtatcTgtccagggcttccaggtgct	13	8	1	2	rs417341	byFrequency	TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	4f280fa7-808c-445d-b173-cb9c2d2f3a96	g.chr19:5844400T>C	ENST00000303225.6	-	3	1085	c.451A>G	c.(451-453)Aga>Gga	p.R151G	FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000458379.2_Missense_Mutation_p.R151G|FUT3_ENST00000589620.1_Missense_Mutation_p.R151G|FUT3_ENST00000589918.1_Missense_Mutation_p.R151G	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	151					cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						TTGAAGTATCTGTCCAGGGCT	0.642													T|||	11	0.00219649	0.0061	0.0014	5008	,	,		14700	0.002		0	False		,,,				2504	0				Esophageal Squamous(82;745 1728 24593 44831)	ENST00000303225.6																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						c.(451-453)Aga>Gga		fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)		T	GLY/ARG,GLY/ARG,GLY/ARG,GLY/ARG	35,4371	40.0+/-72.8	0,35,2168	68	62	64		451,451,451,451	-0.1	0.1	19	dbSNP_80	64	0,8600		0,0,4300	yes	missense,missense,missense,missense	FUT3	NM_000149.3,NM_001097639.1,NM_001097640.1,NM_001097641.1	125,125,125,125	0,35,6468	CC,CT,TT		0.0,0.7944,0.2691	benign,benign,benign,benign	151/362,151/362,151/362,151/362	5844400	35,12971	2203	4300	6503	SO:0001583	missense	2525				protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity	g.chr19:5844400T>C		CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"CD molecules", "Blood group antigens", "Fucosyltransferases"	4014	protein-coding gene	gene with protein product		111100	"fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.451A>G	19.37:g.5844400T>C	ENSP00000305603:p.Arg151Gly					FUT3_ENST00000589918.1_Missense_Mutation_p.R151G|FUT3_ENST00000589620.1_Missense_Mutation_p.R151G|FUT3_ENST00000458379.2_Missense_Mutation_p.R151G	p.R151G	NM_000149.3	NP_000140.1	P21217	FUT3_HUMAN			3	1085	-			151					B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Missense_Mutation	SNP	ENST00000303225.6	37	c.451A>G	CCDS12153.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	T	0.001	-3.133225	0.00030	0.007944	0.0	ENSG00000171124	ENST00000303225;ENST00000458379	T;T	0.25579	1.79;1.79	2.24	-0.0815	0.13702	.	0.613784	0.14038	N	0.345642	T	0.02047	0.0064	N	0.00054	-2.38	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.42498	-0.9448	10	0.06625	T	0.88	.	4.5324	0.12011	0.0:0.4765:0.0:0.5235	rs417341;rs2561801;rs417341	151;151;151;151	B3W6H0;A8K737;B3GVC1;P21217	.;.;.;FUT3_HUMAN	G	151	ENSP00000305603:R151G;ENSP00000416443:R151G	ENSP00000305603:R151G	R	-	1	2	FUT3	5795400	0.000000	0.05858	0.072000	0.20136	0.088000	0.18126	-0.920000	0.04013	0.208000	0.20626	-1.216000	0.01612	AGA		0.642	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452204.1	NM_000149		14	56	0	0	0	1	0	14	56					C	5844400	T	C	5844400	3	2	38	1	0	0	0	0	1	0	0	0	6105	1588	55	3	638	3	FUT3	19	5844400	Missense_Mutation	SNP	T	TCGA-BJ-A45F-01A-12D-A23U-08		5844400	53284583	11	1011											
CCDC105	126402	broad.mit.edu	37	chr19	15132292	15132292	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataagcgaccgtgtgtgtgcCtcgctggcgcagaaggcgag	16	10	0	1			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	4f280fa7-808c-445d-b173-cb9c2d2f3a96	g.chr19:15132292C>T	ENST00000292574.3	+	4	1084	c.1002C>T	c.(1000-1002)gcC>gcT	p.A334A		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	334						extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						GTGTGTGTGCCTCGCTGGCGC	0.622																																						ENST00000292574.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						c.(1000-1002)gcC>gcT		coiled-coil domain containing 105							98	67	78					19																	15132292		2203	4300	6503	SO:0001819	synonymous_variant	126402				microtubule cytoskeleton organization	microtubule		g.chr19:15132292C>T	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.1002C>T	19.37:g.15132292C>T							p.A334A	NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN			4	1084	+			334					Q8N7T5|Q8NDL5	Silent	SNP	ENST00000292574.3	37	c.1002C>T	CCDS12322.1																																																																																				0.622	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482		3	30	0	0	0	1	0	3	30					T	15132292	C	T	15132292	2	4	38	1	0	0	0	0	0	0	0	1	2740	668	24	2		2	CCDC105	19	15132292	Silent	SNP	C	TCGA-BJ-A45F-01A-12D-A23U-08	9287892	15132292	43996691	12	1012											
CD93	22918	broad.mit.edu	37	chr20	23065236	23065236	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	actgggggccagcatcttgaGtggggcagatgtgatggggg	20	6	1	3	rs372540092		TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	4f280fa7-808c-445d-b173-cb9c2d2f3a96	g.chr20:23065236G>C	ENST00000246006.4	-	1	1741	c.1594C>G	c.(1594-1596)Ctc>Gtc	p.L532V		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	532					macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AGCATCTTGAGTGGGGCAGAT	0.662																																						ENST00000246006.4																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1594-1596)Ctc>Gtc		CD93 molecule							45	52	50					20																	23065236		2203	4300	6503	SO:0001583	missense	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23065236G>C	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"CD molecules"	15855	protein-coding gene	gene with protein product		120577	"matrix-remodelling associated 4", "complement component 1, q subcomponent, receptor 1", "CD93 antigen"	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.1594C>G	20.37:g.23065236G>C	ENSP00000246006:p.Leu532Val						p.L532V	NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN			1	1741	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		532					O00274	Missense_Mutation	SNP	ENST00000246006.4	37	c.1594C>G	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	G	3.681	-0.065621	0.07273	.	.	ENSG00000125810	ENST00000246006	T	0.80214	-1.35	5.59	1.36	0.22044	.	1.037860	0.07629	N	0.928371	T	0.66886	0.2835	L	0.34521	1.04	0.09310	N	1	B	0.20887	0.049	B	0.16722	0.016	T	0.48186	-0.9057	10	0.13853	T	0.58	-1.8619	4.7572	0.13090	0.2105:0.0:0.5355:0.2541	.	532	Q9NPY3	C1QR1_HUMAN	V	532	ENSP00000246006:L532V	ENSP00000246006:L532V	L	-	1	0	CD93	23013236	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.277000	0.18734	0.299000	0.22661	-0.137000	0.14449	CTC		0.662	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		21	59	0	0	0	1	0	21	59					C	23065236	G	C	23065236	3	2	38	1	0	0	0	0	1	0	0	0	3047	1029	36	4	372	4	CD93	20	23065236	Missense_Mutation	SNP	G	TCGA-BJ-A45F-01A-12D-A23U-08		23065236	39960284	13	1013											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290	byFrequency	TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		neuroblastoma RAS viral (v-ras) oncogene homolog							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		52	62	0	0	0	1	0	52	62					C	115256529	T	C	115256529	3	2	39	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-BJ-A45G-01A-11D-A23U-08		115256529	133994092	1	1014											
NPR1	4881	broad.mit.edu	37	chr1	153660685	153660685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagatccgcctgacgttgcGcaaatttaacaggtccctgg	11	12	0	2	rs148747309		TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr1:153660685G>A	ENST00000368680.3	+	15	2877	c.2405G>A	c.(2404-2406)cGc>cAc	p.R802H		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	802	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CTGACGTTGCGCAAATTTAAC	0.582																																					Pancreas(141;1349 1870 15144 15830 40702)	ENST00000368680.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(2404-2406)cGc>cAc		natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)		HIS/ARG	0,4406		0,0,2203	107	96	100		2405	3.4	1.0	1	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	missense	NPR1	NM_000906.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	802/1062	153660685	1,13005	2203	4300	6503	SO:0001583	missense	4881				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	g.chr1:153660685G>A	BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"guanylate cyclase A"	108960	"atrionatriuretic peptide receptor A", "natriuretic peptide receptor A"	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.2405G>A	1.37:g.153660685G>A	ENSP00000357669:p.Arg802His						p.R802H	NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		15	2877	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		802			Protein kinase.		B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	ENST00000368680.3	37	c.2405G>A	CCDS1051.1	.	.	.	.	.	.	.	.	.	.	g	19.14	3.769733	0.69992	0.0	1.16E-4	ENSG00000169418	ENST00000368680;ENST00000428723	T	0.62498	0.02	4.45	3.44	0.39384	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000005	T	0.63141	0.2486	M	0.82716	2.605	0.80722	D	1	P;D	0.56521	0.801;0.976	B;P	0.50082	0.199;0.63	T	0.70539	-0.4844	10	0.72032	D	0.01	.	11.267	0.49116	0.0:0.0:0.8168:0.1832	.	281;802	B7Z4Y7;P16066	.;ANPRA_HUMAN	H	802;281	ENSP00000357669:R802H	ENSP00000357669:R802H	R	+	2	0	NPR1	151927309	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	2.788000	0.47806	2.438000	0.82558	0.457000	0.33378	CGC		0.582	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		5	36	0	0	0	1	0	5	36					A	153660685	G	A	153660685	3	1	39	1	0	0	0	0	1	0	0	0	10594	1087	38	1	2463	1	NPR1	1	153660685	Missense_Mutation	SNP	G	TCGA-BJ-A45G-01A-11D-A23U-08	38404156	153660685	95589936	2	1015											
IGFBP7	3490	broad.mit.edu	37	chr4	57898634	57898634	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaggcatcaaccactgtaaTttttgctgatgctgaagcct	8	9	1	2			TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr4:57898634T>C	ENST00000295666.4	-	4	820	c.787A>G	c.(787-789)Att>Gtt	p.I263V	IGFBP7_ENST00000537922.1_Missense_Mutation_p.I263V|IGFBP7_ENST00000512512.1_5'UTR	NM_001553.2	NP_001544.1	Q16270	IBP7_HUMAN	insulin-like growth factor binding protein 7	263	Ig-like C2-type.				cell adhesion (GO:0007155)|cellular response to hormone stimulus (GO:0032870)|embryo implantation (GO:0007566)|inner ear development (GO:0048839)|negative regulation of cell proliferation (GO:0008285)|regulation of cell growth (GO:0001558)|regulation of steroid biosynthetic process (GO:0050810)|response to cortisol (GO:0051414)|response to heat (GO:0009408)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(1)|lung(3)	5	Glioma(25;0.08)|all_neural(26;0.181)				"""Insulin(DB00071)|Insulin Regular(DB00030)"	ACCACTGTAATTTTTGCTGAT	0.368																																						ENST00000295666.4																			0				central_nervous_system(1)|endometrium(1)|lung(3)	5						c.(787-789)Att>Gtt		insulin-like growth factor binding protein 7	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						141	131	134					4																	57898634		2203	4300	6503	SO:0001583	missense	3490				cell adhesion|negative regulation of cell proliferation|regulation of cell growth	extracellular space	insulin-like growth factor binding	g.chr4:57898634T>C	S75725	CCDS3512.1	4q12	2013-01-11			ENSG00000163453	ENSG00000163453		"Immunoglobulin superfamily / I-set domain containing"	5476	protein-coding gene	gene with protein product		602867				7694637, 7980422	Standard	NM_001553		Approved	MAC25, IGFBP-7, PSF, FSTL2	uc003hcn.3	Q16270	OTTHUMG00000128772	ENST00000295666.4:c.787A>G	4.37:g.57898634T>C	ENSP00000295666:p.Ile263Val					IGFBP7_ENST00000537922.1_Missense_Mutation_p.I263V|IGFBP7_ENST00000512512.1_5'UTR	p.I263V	NM_001553.2	NP_001544.1	Q16270	IBP7_HUMAN			4	820	-	Glioma(25;0.08)|all_neural(26;0.181)		263			Ig-like C2-type.		B4E1N2|B7Z9W7|Q07822|Q53YE6|Q9UCA8	Missense_Mutation	SNP	ENST00000295666.4	37	c.787A>G	CCDS3512.1	.	.	.	.	.	.	.	.	.	.	T	15.82	2.947232	0.53186	.	.	ENSG00000163453	ENST00000295666;ENST00000537922	T;T	0.38240	1.15;1.15	5.71	5.71	0.89125	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.34658	0.0905	N	0.03115	-0.41	0.47009	D	0.999289	D;D	0.63880	0.958;0.993	D;D	0.76071	0.97;0.987	T	0.40194	-0.9576	10	0.18710	T	0.47	-5.5568	14.5594	0.68126	0.0:0.0:0.0:1.0	.	263;263	B4E1N2;Q16270	.;IBP7_HUMAN	V	263	ENSP00000295666:I263V;ENSP00000444146:I263V	ENSP00000295666:I263V	I	-	1	0	IGFBP7	57593391	1.000000	0.71417	0.926000	0.36857	0.916000	0.54674	6.820000	0.75267	2.172000	0.68678	0.533000	0.62120	ATT		0.368	IGFBP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250693.1			6	35	0	0	0	1	0	6	35					C	57898634	T	C	57898634	3	2	39	1	0	0	0	0	1	0	0	0	7584	1493	52	3	69	3	IGFBP7	4	57898634	Missense_Mutation	SNP	T	TCGA-BJ-A45G-01A-11D-A23U-08		57898634	133255642	3	1016											
MMAA	166785	broad.mit.edu	37	chr4	146560393	146560393	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcactcaagtactcatctCggatcaggaatcccatgtgc	7	12	5	0	rs146372922	byFrequency	TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr4:146560393C>T	ENST00000281317.5	+	2	1312	c.102C>T	c.(100-102)ctC>ctT	p.L34L	MMAA_ENST00000541599.1_5'UTR	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	34					cellular lipid metabolic process (GO:0044255)|cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTACTCATCTCGGATCAGGAA	0.443													c|||	9	0.00179712	0.0068	0	5008	,	,		19886	0		0	False		,,,				2504	0					ENST00000281317.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17						c.(100-102)ctC>ctT		methylmalonic aciduria (cobalamin deficiency) cblA type	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	C		16,4390	24.3+/-50.5	0,16,2187	149	143	145		102	-0.3	0.0	4	dbSNP_134	145	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	MMAA	NM_172250.2		0,18,6485	TT,TC,CC		0.0233,0.3631,0.1384		34/419	146560393	18,12988	2203	4300	6503	SO:0001819	synonymous_variant	166785					mitochondrion	GTP binding|nucleoside-triphosphatase activity	g.chr4:146560393C>T	AF524841	CCDS3766.1	4q31.1	2011-05-12	2005-07-11			ENSG00000151611			18871	protein-coding gene	gene with protein product		607481	"methylmalonic aciduria (cobalamin deficiency) type A"			12438653	Standard	NM_172250		Approved	cblA	uc003ikh.4	Q8IVH4		ENST00000281317.5:c.102C>T	4.37:g.146560393C>T						MMAA_ENST00000541599.1_5'UTR	p.L34L	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN			2	1312	+	all_hematologic(180;0.151)		34					B3KX40|Q495G7	Silent	SNP	ENST00000281317.5	37	c.102C>T	CCDS3766.1																																																																																				0.443	MMAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364668.2			46	78	0	0	0	1	0	46	78					T	146560393	C	T	146560393	2	4	39	1	0	0	0	0	0	0	0	1	9639	871	31	1		1	MMAA	4	146560393	Silent	SNP	C	TCGA-BJ-A45G-01A-11D-A23U-08	88661759	146560393	44593883	4	1017											
NKD2	85409	broad.mit.edu	37	chr5	1038447	1038449	+	In_Frame_Del	DEL	CAC	CAC	-													agcaccaccaccaccacgagCaccaccaccaccaccaccac					rs3840989		TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr5:1038447_1038449delCAC	ENST00000296849.5	+	10	1544_1546	c.1315_1317delCAC	c.(1315-1317)cacdel	p.H447del	NKD2_ENST00000382730.2_In_Frame_Del_p.P86del|NKD2_ENST00000274150.4_3'UTR	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	447	His-rich.				exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			ccaccacgagcaccaccaccacc	0.69																																						ENST00000296849.5																			0				breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14						c.(1315-1317)del		naked cuticle homolog 2 (Drosophila)																																				SO:0001651	inframe_deletion	85409				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding	g.chr5:1038447_1038449delCAC	AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"EF-hand domain containing"	17046	protein-coding gene	gene with protein product	"naked cuticle-2", "Dvl-binding protein NKD2"	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.1315_1317delCAC	5.37:g.1038456_1038458delCAC	ENSP00000296849:p.His447del					NKD2_ENST00000382730.2_In_Frame_Del_p.AP78del|NKD2_ENST00000274150.4_3'UTR	p.H447del	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)		10	1544_1546	+	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		447			His-rich.		Q96EK8|Q9BSN0	In_Frame_Del	DEL	ENST00000296849.5	37	c.1315_1317delCAC	CCDS3859.1																																																																																				0.69	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206720.2	NM_033120		2	4						2	4	---	---	---	---	-	1038449	CAC	-	1038447	7	5	39	1	0	1	0	1	0	0	0	0	10442	710	25	0	1353	0	NKD2	5	1038447	In_Frame_Del	DEL	CAC	TCGA-BJ-A45G-01A-11D-A23U-08		1038447	179876813	5	1018											
FOXP4	116113	broad.mit.edu	37	chr6	41555115	41555115	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcctgccgaggacagcgtcaAgcaggaggggctggacctca	16	12	2	0	rs200305782	byFrequency	TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr6:41555115A>T	ENST00000307972.4	+	6	749	c.737A>T	c.(736-738)aAg>aTg	p.K246M	FOXP4_ENST00000409208.1_Missense_Mutation_p.K246M|FOXP4_ENST00000373057.3_Missense_Mutation_p.K244M|FOXP4_ENST00000373060.1_Missense_Mutation_p.K246M|FOXP4_ENST00000373063.3_Missense_Mutation_p.K245M			Q8IVH2	FOXP4_HUMAN	forkhead box P4	246					embryonic foregut morphogenesis (GO:0048617)|heart development (GO:0007507)|lung secretory cell differentiation (GO:0061140)|negative regulation of lung goblet cell differentiation (GO:1901250)	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)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					GACAGCGTCAAGCAGGAGGGG	0.692											OREG0004065	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A|||	5	0.000998403	0	0	5008	,	,		14662	0.005		0	False		,,,				2504	0					ENST00000373060.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16						c.(736-738)aAg>aTg		forkhead box P4							63	66	65					6																	41555115		2203	4299	6502	SO:0001583	missense	116113				embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	g.chr6:41555115A>T	AB080747	CCDS4856.1, CCDS34447.1, CCDS34448.1	6p21.1	2008-02-05			ENSG00000137166	ENSG00000137166		"Forkhead boxes"	20842	protein-coding gene	gene with protein product		608924					Standard	XM_006714991		Approved	FLJ40908	uc003oql.3	Q8IVH2	OTTHUMG00000014679	ENST00000307972.4:c.737A>T	6.37:g.41555115A>T	ENSP00000309823:p.Lys246Met		OREG0004065	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	902	FOXP4_ENST00000307972.4_Missense_Mutation_p.K246M|FOXP4_ENST00000373063.3_Missense_Mutation_p.K245M|FOXP4_ENST00000409208.1_Missense_Mutation_p.K246M|FOXP4_ENST00000373057.3_Missense_Mutation_p.K244M	p.K246M	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN			7	1195	+	Ovarian(28;0.0327)|Colorectal(47;0.196)		246					Q5W098|Q7Z7F8|Q8IW55|Q96E19	Missense_Mutation	SNP	ENST00000307972.4	37	c.737A>T	CCDS34447.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	A	15.07	2.725393	0.48833	.	.	ENSG00000137166	ENST00000373060;ENST00000373063;ENST00000409208;ENST00000373057;ENST00000307972	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	4.92	3.52	0.40303	.	0.119501	0.56097	D	0.000027	T	0.33089	0.0851	M	0.69823	2.125	0.46317	D	0.998982	P;P;B	0.46621	0.881;0.881;0.06	P;P;B	0.46718	0.525;0.525;0.09	T	0.21109	-1.0255	10	0.66056	D	0.02	.	8.6657	0.34118	0.8811:0.0:0.1189:0.0	.	245;244;246	Q8IW55;Q7Z7F8;Q8IVH2	.;.;FOXP4_HUMAN	M	246;245;246;244;246	ENSP00000362151:K246M;ENSP00000362154:K245M;ENSP00000386958:K246M;ENSP00000362148:K244M;ENSP00000309823:K246M	ENSP00000309823:K246M	K	+	2	0	FOXP4	41663093	1.000000	0.71417	1.000000	0.80357	0.140000	0.21249	5.542000	0.67218	0.695000	0.31675	0.533000	0.62120	AAG		0.692	FOXP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000106767.1	NM_138457		4	71	0	0	0	1	0	4	71					T	41555115	A	T	41555115	3	4	39	1	0	0	0	0	1	0	0	0	6029	72	3	5	759	5	FOXP4	6	41555115	Missense_Mutation	SNP	A	TCGA-BJ-A45G-01A-11D-A23U-08		41555115	129559952	6	1019											
FAM46A	55603	broad.mit.edu	37	chr6	82461727	82461727	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcccaccgaagctgccgccAccgccgaagtcgccgccgcc	11	21	0	0	rs373591596		TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	d962e1b5-46ff-4ce3-8372-69616984a546	g.chr6:82461727A>G	ENST00000320172.6	-	2	446	c.132T>C	c.(130-132)ggT>ggC	p.G44G	FAM46A_ENST00000369754.3_Silent_p.G63G|FAM46A_ENST00000369756.3_Silent_p.G125G	NM_017633.2	NP_060103.2	Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	44					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)		poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		Agctgccgccaccgccgaagt	0.682																																						ENST00000369754.3																			0				endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12						c.(187-189)ggT>ggC		family with sequence similarity 46, member A							11	12	12					6																	82461727		1974	3964	5938	SO:0001819	synonymous_variant	55603							g.chr6:82461727A>G	AF350451	CCDS34489.1	6q14	2008-07-03	2004-08-19	2004-08-26	ENSG00000112773	ENSG00000112773			18345	protein-coding gene	gene with protein product		611357	"chromosome 6 open reading frame 37"	C6orf37		12054608, 17803723	Standard	NM_017633		Approved	FLJ20037	uc003pjg.3	Q96IP4	OTTHUMG00000015097	ENST00000320172.6:c.132T>C	6.37:g.82461727A>G						FAM46A_ENST00000369756.3_Silent_p.G125G|FAM46A_ENST00000320172.6_Silent_p.G44G	p.G63G			Q96IP4	FA46A_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0428)	2	501	-		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)	44					A8K7U4|Q5TF86|Q8NFZ9|Q9BW32|Q9NXV5	Silent	SNP	ENST00000320172.6	37	c.189T>C	CCDS34489.1																																																																																				0.682	FAM46A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041331.1			3	16	0	0	0	1	0	3	16					G	82461727	A	G	82461727	2	3	39	1	0	0	0	0	0	0	0	1	5565	146	6	3		3	FAM46A	6	82461727	Silent	SNP	A	TCGA-BJ-A45G-01A-11D-A23U-08	40906612	82461727	88653340	7	1020											
NODAL	4838	broad.mit.edu	37	chr10	72195326	72195326	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccacccagctgcctctgctCctgcgagaggttggagtaga	12	14	1	2	rs10999334	byFrequency	TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr10:72195326C>T	ENST00000287139.3	-	2	606	c.607G>A	c.(607-609)Gag>Aag	p.E203K	AC022532.1_ENST00000420338.2_Silent_p.L91L	NM_018055.4	NP_060525.3	Q96S42	NODAL_HUMAN	nodal growth differentiation factor	203			E -> K (in HTX5; decrease in signal transduction; dbSNP:rs10999334). {ECO:0000269|PubMed:19064609}.		axial mesodermal cell fate specification (GO:0048327)|brain development (GO:0007420)|cell migration involved in gastrulation (GO:0042074)|digestive tract morphogenesis (GO:0048546)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic pattern specification (GO:0009880)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endodermal cell differentiation (GO:0035987)|epiblast cell-extraembryonic ectoderm cell signaling involved in anterior/posterior axis specification (GO:0060802)|floor plate morphogenesis (GO:0033505)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|heart looping (GO:0001947)|inhibition of neuroepithelial cell differentiation (GO:0002085)|left lung morphogenesis (GO:0060460)|liver development (GO:0001889)|maternal placenta development (GO:0001893)|maternal process involved in parturition (GO:0060137)|mesendoderm development (GO:0048382)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of chorionic trophoblast cell proliferation (GO:1901383)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of trophoblast cell migration (GO:1901164)|neural fold formation (GO:0001842)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|placenta development (GO:0001890)|polarity specification of proximal/distal axis (GO:0010085)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gastrulation (GO:0010470)|regulation of stem cell maintenance (GO:2000036)|SMAD protein signal transduction (GO:0060395)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway involved in primitive streak formation (GO:0090010)|trophectodermal cellular morphogenesis (GO:0001831)|vasculature development (GO:0001944)	extracellular space (GO:0005615)	morphogen activity (GO:0016015)|type I activin receptor binding (GO:0070698)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						TGCCTCTGCTCCTGCGAGAGG	0.662													C|||	13	0.00259585	0	0	5008	,	,		18479	0.0119		0	False		,,,				2504	0.001					ENST00000287139.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						c.(607-609)Gag>Aag		nodal growth differentiation factor							32	34	33					10																	72195326		2203	4300	6503	SO:0001583	missense	4838				growth	extracellular space	cytokine activity|growth factor activity	g.chr10:72195326C>T	BC033585	CCDS7304.1	10q22.1	2012-12-07	2012-12-07		ENSG00000156574	ENSG00000156574			7865	protein-coding gene	gene with protein product		601265	"nodal, mouse, homolog", "nodal homolog (mouse)"			9354794	Standard	NM_018055		Approved		uc001jrc.2	Q96S42	OTTHUMG00000018408	ENST00000287139.3:c.607G>A	10.37:g.72195326C>T	ENSP00000287139:p.Glu203Lys					AC022532.1_ENST00000420338.2_Silent_p.L91L	p.E203K	NM_018055.4	NP_060525.3	Q96S42	NODAL_HUMAN			2	606	-			203		E -> K (in HTX5; decrease in signal transduction; dbSNP:rs10999334).			Q2M3A5|Q8N4V3	Missense_Mutation	SNP	ENST00000287139.3	37	c.607G>A	CCDS7304.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	C	6.904	0.536390	0.13188	.	.	ENSG00000156574	ENST00000287139;ENST00000414871	D;D	0.84944	-1.92;-1.9	5.88	4.99	0.66335	.	0.414253	0.29172	N	0.012930	T	0.69602	0.3129	L	0.32530	0.975	0.32354	N	0.558023	B	0.06786	0.001	B	0.04013	0.001	T	0.70439	-0.4871	10	0.19590	T	0.45	.	10.3912	0.44168	0.0:0.8488:0.0:0.1512	rs10999334;rs52824892;rs10999334	203	Q96S42	NODAL_HUMAN	K	203;148	ENSP00000287139:E203K;ENSP00000394468:E148K	ENSP00000287139:E203K	E	-	1	0	NODAL	71865332	0.963000	0.33076	0.882000	0.34594	0.014000	0.08584	2.126000	0.42026	1.497000	0.48584	-0.137000	0.14449	GAG		0.662	NODAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048511.1	NM_018055		3	32	0	0	0	1	0	3	32					T	72195326	C	T	72195326	3	4	39	1	0	0	0	0	1	0	0	0	10518	864	30	2	444	2	NODAL	10	72195326	Missense_Mutation	SNP	C	TCGA-BJ-A45G-01A-11D-A23U-08		72195326	63339421	8	1021											
FAM111A	63901	broad.mit.edu	37	chr11	58920619	58920619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgatccctcagggtcagcGagcaaagaaatgtcaggaac	12	9	3	2			TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr11:58920619G>A	ENST00000528737.1	+	5	4296	c.1478G>A	c.(1477-1479)cGa>cAa	p.R493Q	FAM111A_ENST00000531147.1_Missense_Mutation_p.R493Q|FAM111A_ENST00000533703.1_Missense_Mutation_p.R493Q|FAM111A_ENST00000420244.1_Missense_Mutation_p.R493Q|FAM111A_ENST00000361723.3_Missense_Mutation_p.R493Q			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	493	Interaction with SV40 large T antigen.				defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				CAGGGTCAGCGAGCAAAGAAA	0.403																																						ENST00000528737.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1477-1479)cGa>cAa		family with sequence similarity 111, member A							96	98	97					11																	58920619		2201	4295	6496	SO:0001583	missense	63901				proteolysis		serine-type endopeptidase activity	g.chr11:58920619G>A	AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.1478G>A	11.37:g.58920619G>A	ENSP00000434435:p.Arg493Gln					FAM111A_ENST00000420244.1_Missense_Mutation_p.R493Q|FAM111A_ENST00000533703.1_Missense_Mutation_p.R493Q|FAM111A_ENST00000361723.3_Missense_Mutation_p.R493Q|FAM111A_ENST00000531147.1_Missense_Mutation_p.R493Q	p.R493Q			Q96PZ2	F111A_HUMAN			5	4296	+		all_epithelial(135;0.139)	493					A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Missense_Mutation	SNP	ENST00000528737.1	37	c.1478G>A	CCDS7973.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211715	0.58452	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000533703;ENST00000531147	T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7	4.67	2.66	0.31614	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.413349	0.21534	N	0.073015	T	0.58278	0.2111	M	0.83953	2.67	0.09310	N	1	D	0.69078	0.997	P	0.54629	0.757	T	0.49808	-0.8900	10	0.42905	T	0.14	-0.2031	7.2558	0.26175	0.0929:0.0:0.739:0.1681	.	493	Q96PZ2	F111A_HUMAN	Q	493	ENSP00000434435:R493Q;ENSP00000406683:R493Q;ENSP00000355264:R493Q;ENSP00000433154:R493Q;ENSP00000431631:R493Q	ENSP00000355264:R493Q	R	+	2	0	FAM111A	58677195	0.002000	0.14202	0.091000	0.20842	0.014000	0.08584	0.942000	0.29017	1.340000	0.45581	-0.136000	0.14681	CGA		0.403	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074		7	89	0	0	0	1	0	7	89					A	58920619	G	A	58920619	3	1	39	1	0	0	0	0	1	0	0	0	5399	1058	37	1	1484	1	FAM111A	11	58920619	Missense_Mutation	SNP	G	TCGA-BJ-A45G-01A-11D-A23U-08		58920619	76085897	9	1022											
NPAS4	266743	broad.mit.edu	37	chr11	66189993	66189993	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccacctcactgtgcgccaGcaactcaccctgccctctgc	7	20	3	0			TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr11:66189993G>A	ENST00000311034.2	+	3	575	c.399G>A	c.(397-399)caG>caA	p.Q133Q		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	133	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTGTGCGCCAGCAACTCACCC	0.582																																						ENST00000311034.2																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						c.(397-399)caG>caA		neuronal PAS domain protein 4							147	125	133					11																	66189993		2200	4295	6495	SO:0001819	synonymous_variant	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66189993G>A	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"Basic helix-loop-helix proteins"	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.399G>A	11.37:g.66189993G>A							p.Q133Q	NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN			3	575	+			133			PAS 1.		B7ZL81|Q8N8S5|Q8N9Q9	Silent	SNP	ENST00000311034.2	37	c.399G>A	CCDS8138.1																																																																																				0.582	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		3	45	0	0	0	1	0	3	45					A	66189993	G	A	66189993	2	1	39	1	0	0	0	0	0	0	0	1	10565	962	34	2		2	NPAS4	11	66189993	Silent	SNP	G	TCGA-BJ-A45G-01A-11D-A23U-08	7269374	66189993	68816523	10	1023											
OR4M1	441670	broad.mit.edu	37	chr14	20248797	20248797	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacagctcttcttcttacacTttgttggggcttcggagatg	10	10	3	1			TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr14:20248797T>A	ENST00000315957.4	+	1	397	c.316T>A	c.(316-318)Ttt>Att	p.F106I		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	106						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)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTCTTACACTTTGTTGGGGC	0.473																																						ENST00000315957.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42						c.(316-318)Ttt>Att		olfactory receptor, family 4, subfamily M, member 1							234	253	246					14																	20248797		2203	4300	6503	SO:0001583	missense	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20248797T>A		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"GPCR / Class A : Olfactory receptors"	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.316T>A	14.37:g.20248797T>A	ENSP00000319654:p.Phe106Ile						p.F106I	NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	397	+	all_cancers(95;0.00108)		106					B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	c.316T>A	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	13.79	2.343637	0.41498	.	.	ENSG00000176299	ENST00000315957	T	0.00414	7.52	4.2	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000188	T	0.00356	0.0011	L	0.47716	1.5	0.25030	N	0.991275	B	0.30439	0.279	B	0.27608	0.081	T	0.47315	-0.9127	10	0.49607	T	0.09	-15.447	11.5315	0.50614	0.0:0.0:0.0:1.0	.	106	Q8NGD0	OR4M1_HUMAN	I	106	ENSP00000319654:F106I	ENSP00000319654:F106I	F	+	1	0	OR4M1	19318637	0.002000	0.14202	1.000000	0.80357	0.823000	0.46562	0.873000	0.28052	1.894000	0.54839	0.330000	0.21533	TTT		0.473	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			9	261	0	0	0	1	0	9	261					A	20248797	T	A	20248797	3	1	39	1	0	0	0	0	1	0	0	0	11075	1609	56	5	318	5	OR4M1	14	20248797	Missense_Mutation	SNP	T	TCGA-BJ-A45G-01A-11D-A23U-08		20248797	87100743	11	1024											
RNASE1	6035	broad.mit.edu	37	chr14	21270003	21270003	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatctaccaggggctcgtgCacaaaggtgttcactggttt	11	10	2	0			TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr14:21270003C>T	ENST00000397967.4	-	2	731	c.225G>A	c.(223-225)gtG>gtA	p.V75V	RNASE1_ENST00000340900.3_Silent_p.V75V|RNASE1_ENST00000555698.1_Silent_p.V35V|RNASE1_ENST00000397970.4_Silent_p.V75V|RNASE1_ENST00000412779.2_Silent_p.V75V	NM_002933.4	NP_002924.1	P07998	RNAS1_HUMAN	ribonuclease, RNase A family, 1 (pancreatic)	75					RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	extracellular vesicular exosome (GO:0070062)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	5	all_cancers(95;0.00671)	all_lung(585;0.235)	Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)	Guanidine(DB00536)|L-Aspartic Acid(DB00128)	GGGGCTCGTGCACAAAGGTGT	0.542																																						ENST00000397967.4																			0				central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	5						c.(223-225)gtG>gtA		ribonuclease, RNase A family, 1 (pancreatic)							143	127	132					14																	21270003		2203	4300	6503	SO:0001819	synonymous_variant	6035					extracellular region	nucleic acid binding|pancreatic ribonuclease activity|protein binding	g.chr14:21270003C>T	BC005324	CCDS9559.1	14q11.2	2014-03-13			ENSG00000129538	ENSG00000129538	3.1.27.5	"Ribonucleases, RNase A"	10044	protein-coding gene	gene with protein product		180440		RNS1		8588814	Standard	NM_002933		Approved		uc001vyi.3	P07998	OTTHUMG00000029603	ENST00000397967.4:c.225G>A	14.37:g.21270003C>T						RNASE1_ENST00000397970.4_Silent_p.V75V|RNASE1_ENST00000340900.3_Silent_p.V75V|RNASE1_ENST00000555698.1_Silent_p.V35V|RNASE1_ENST00000412779.2_Silent_p.V75V	p.V75V	NM_002933.4	NP_002924.1	P07998	RNAS1_HUMAN	Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)	2	731	-	all_cancers(95;0.00671)	all_lung(585;0.235)	75					B2R589|D3DS06|Q16830|Q16869|Q1KHR2|Q6ICS5|Q9UCB4|Q9UCB5	Silent	SNP	ENST00000397967.4	37	c.225G>A	CCDS9559.1																																																																																				0.542	RNASE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073791.3			5	73	0	0	0	1	0	5	73					T	21270003	C	T	21270003	2	4	39	1	0	0	0	0	0	0	0	1	13399	697	25	2		2	RNASE1	14	21270003	Silent	SNP	C	TCGA-BJ-A45G-01A-11D-A23U-08	1021206	21270003	86079537	12	1025											
ACAN	176	broad.mit.edu	37	chr15	89391161	89391161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gataccccattgtgagccccCggaccccatgcgtgggtgac	12	15	0	2	rs143697605		TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr15:89391161C>T	ENST00000561243.1	+	8	1624	c.1624C>T	c.(1624-1626)Cgg>Tgg	p.R542W	ACAN_ENST00000559004.1_Missense_Mutation_p.R542W|ACAN_ENST00000352105.7_Missense_Mutation_p.R542W|ACAN_ENST00000439576.2_Missense_Mutation_p.R542W|ACAN_ENST00000558207.1_Missense_Mutation_p.R542W			P16112	PGCA_HUMAN	aggrecan	542	G2-B.|Link 3. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.R542W(1)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGTGAGCCCCCGGACCCCATG	0.607													C|||	1	0.000199681	8e-04	0	5008	,	,		11533	0		0	False		,,,				2504	0					ENST00000439576.2																			1	Substitution - Missense(1)	p.R542W(1)	large_intestine(1)	NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(1624-1626)Cgg>Tgg		aggrecan							72	75	74					15																	89391161		1949	4147	6096	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89391161C>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.1624C>T	15.37:g.89391161C>T	ENSP00000453342:p.Arg542Trp					ACAN_ENST00000352105.7_Missense_Mutation_p.R542W|ACAN_ENST00000559004.1_Missense_Mutation_p.R542W|ACAN_ENST00000561243.1_Missense_Mutation_p.R542W|ACAN_ENST00000558207.1_Missense_Mutation_p.R542W	p.R542W	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		9	1998	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		542					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.1624C>T	CCDS53970.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.01	2.707015	0.48412	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.13901	2.55;2.55	5.35	3.4	0.38934	.	.	.	.	.	T	0.49541	0.1563	H	0.97103	3.94	0.40088	D	0.976221	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.63817	-0.6551	9	0.87932	D	0	-18.098	11.6973	0.51551	0.3215:0.6785:0.0:0.0	.	542;542;542	E7ENV9;E7EX88;Q6PID9	.;.;.	W	542	ENSP00000387356:R542W;ENSP00000341615:R542W	ENSP00000268134:R542W	R	+	1	2	ACAN	87192165	0.202000	0.23423	0.676000	0.29932	0.976000	0.68499	0.725000	0.25970	0.581000	0.29539	0.563000	0.77884	CGG		0.607	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		4	56	0	0	0	1	0	4	56					T	89391161	C	T	89391161	3	4	39	1	0	0	0	0	1	0	0	0	117	643	23	1	1654	1	ACAN	15	89391161	Missense_Mutation	SNP	C	TCGA-BJ-A45G-01A-11D-A23U-08		89391161	13140231	13	1026											
COG7	91949	broad.mit.edu	37	chr16	23428325	23428325	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggctgacaacaggccgcAggtccccaggccattggtga	14	13	0	2			TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr16:23428325A>G	ENST00000307149.5	-	9	1440	c.1255T>C	c.(1255-1257)Tgc>Cgc	p.C419R		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	419					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		AACAGGCCGCAGGTCCCCAGG	0.567																																						ENST00000307149.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27						c.(1255-1257)Tgc>Cgc		component of oligomeric golgi complex 7							85	67	73					16																	23428325		2197	4300	6497	SO:0001583	missense	91949				intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:23428325A>G	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"Components of oligomeric golgi complex"	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.1255T>C	16.37:g.23428325A>G	ENSP00000305442:p.Cys419Arg						p.C419R	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN		GBM - Glioblastoma multiforme(48;0.0401)	9	1440	-			419					Q6UWU7	Missense_Mutation	SNP	ENST00000307149.5	37	c.1255T>C	CCDS10610.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.246237	0.80024	.	.	ENSG00000168434	ENST00000307149	T	0.44482	0.92	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.59783	0.2219	M	0.66939	2.045	0.80722	D	1	D	0.71674	0.998	D	0.68353	0.957	T	0.56159	-0.8025	10	0.21540	T	0.41	-8.1377	14.9498	0.71064	1.0:0.0:0.0:0.0	.	419	P83436	COG7_HUMAN	R	419	ENSP00000305442:C419R	ENSP00000305442:C419R	C	-	1	0	COG7	23335826	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	4.920000	0.63390	2.135000	0.66039	0.533000	0.62120	TGC		0.567	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			3	37	0	0	0	1	0	3	37					G	23428325	A	G	23428325	3	3	39	1	0	0	0	0	1	0	0	0	3663	188	7	3	1093	3	COG7	16	23428325	Missense_Mutation	SNP	A	TCGA-BJ-A45G-01A-11D-A23U-08		23428325	66926428	14	1027											
MED13	9969	broad.mit.edu	37	chr17	60142516	60142516	+	Frame_Shift_Del	DEL	A	A	-													ctcaccaggcagaagaggttAcagtgacaatcttccaggct							TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr17:60142516delA	ENST00000397786.2	-	1	127	c.51delT	c.(49-51)tgtfs	p.C17fs		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	17					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGAAGAGGTTACAGTGACAAT	0.716																																						ENST00000397786.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(49-51)tgfs		mediator complex subunit 13							7	10	9					17																	60142516		1933	4134	6067	SO:0001589	frameshift_variant	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60142516delA	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.51delT	17.37:g.60142516delA	ENSP00000380888:p.Cys17fs						p.C17fs	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN			1	127	-			17					B2RU05|O60334	Frame_Shift_Del	DEL	ENST00000397786.2	37	c.51delT	CCDS42366.1																																																																																				0.716	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		2	4						2	4	---	---	---	---	-	60142516	A	-	60142516	7	5	39	1	0	1	0	1	0	0	0	0	9430	389	14	0	6593	0	MED13	17	60142516	Frame_Shift_Del	DEL	A	TCGA-BJ-A45G-01A-11D-A23U-08		60142516	21052694	15	1028											
TRMT1	55621	broad.mit.edu	37	chr19	13220604	13220604	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtcgttgcccacagtgTtcacactcgggggtcacagg	14	11	2	0			TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr19:13220604T>C	ENST00000592062.1	-	11	1725	c.1155A>G	c.(1153-1155)gaA>gaG	p.E385E	TRMT1_ENST00000437766.1_Silent_p.E385E|TRMT1_ENST00000357720.4_Silent_p.E385E|TRMT1_ENST00000221504.8_Silent_p.E356E			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	385	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)		GCCCACAGTGTTCACACTCGG	0.627																																						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.(1153-1155)gaA>gaG		tRNA methyltransferase 1 homolog (S. cerevisiae)							76	78	77					19																	13220604		2203	4300	6503	SO:0001819	synonymous_variant	55621						RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr19:13220604T>C	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.1155A>G	19.37:g.13220604T>C						TRMT1_ENST00000357720.4_Silent_p.E385E|TRMT1_ENST00000437766.1_Silent_p.E385E|TRMT1_ENST00000221504.8_Silent_p.E356E	p.E385E			Q9NXH9	TRM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)	11	1725	-			385					O76103|Q548Y5|Q8WVA6	Silent	SNP	ENST00000592062.1	37	c.1155A>G	CCDS12293.1																																																																																				0.627	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452780.2	NM_017722		10	26	0	0	0	1	0	10	26					C	13220604	T	C	13220604	2	2	39	1	0	0	0	0	0	0	0	1	16558	1722	60	3		3	TRMT1	19	13220604	Silent	SNP	T	TCGA-BJ-A45G-01A-11D-A23U-08		13220604	45908379	16	1029											
ANO8	57719	broad.mit.edu	37	chr19	17435806	17435806	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggcaggcaggcgggtgtcGctgcctgtgggtgactgggc	20	9	0	1	rs540938848		TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr19:17435806G>A	ENST00000159087.4	-	17	3209	c.3051C>T	c.(3049-3051)agC>agT	p.S1017S		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	1017					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GGCGGGTGTCGCTGCCTGTGG	0.667													G|||	1	0.000199681	0	0	5008	,	,		12103	0.001		0	False		,,,				2504	0					ENST00000159087.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						c.(3049-3051)agC>agT		anoctamin 8							62	79	73					19																	17435806		2202	4299	6501	SO:0001819	synonymous_variant	57719					chloride channel complex	chloride channel activity	g.chr19:17435806G>A	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	29329	protein-coding gene	gene with protein product		610216	"KIAA1623", "transmembrane protein 16H"	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.3051C>T	19.37:g.17435806G>A							p.S1017S	NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN			17	3209	-			1017					A6NIJ0	Silent	SNP	ENST00000159087.4	37	c.3051C>T	CCDS32949.1																																																																																				0.667	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644		6	104	0	0	0	1	0	6	104					A	17435806	G	A	17435806	2	1	39	1	0	0	0	0	0	0	0	1	703	1078	38	1		1	ANO8	19	17435806	Silent	SNP	G	TCGA-BJ-A45G-01A-11D-A23U-08	4215202	17435806	41693177	17	1030											
B3GNT3	10331	broad.mit.edu	37	chr19	17922809	17922809	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgcaacgcctgtcctcctttGacccctgcttctaccgagac	7	18	1	2			TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr19:17922809G>T	ENST00000318683.6	+	3	1144	c.997G>T	c.(997-999)Gac>Tac	p.D333Y	B3GNT3_ENST00000595387.1_Missense_Mutation_p.D333Y	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	333					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						GTCCTCCTTTGACCCCTGCTT	0.622																																						ENST00000318683.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						c.(997-999)Gac>Tac		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3							130	119	123					19																	17922809		2203	4300	6503	SO:0001583	missense	10331				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	g.chr19:17922809G>T	AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"Beta 3-glycosyltransferases"	13528	protein-coding gene	gene with protein product	"putative type II membrane protein", "beta-1,3-N-acetylglucosaminyltransferase bGnT-3", "transmembrane protein 3"	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.997G>T	19.37:g.17922809G>T	ENSP00000321874:p.Asp333Tyr					B3GNT3_ENST00000595387.1_Missense_Mutation_p.D333Y	p.D333Y	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN			3	1144	+			333					B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Missense_Mutation	SNP	ENST00000318683.6	37	c.997G>T	CCDS12364.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.577846	0.65878	.	.	ENSG00000179913	ENST00000318683	T	0.57107	0.42	5.23	5.23	0.72850	.	0.055773	0.64402	D	0.000002	T	0.78317	0.4264	M	0.91818	3.245	0.58432	D	0.99999	D	0.89917	1.0	D	0.78314	0.991	D	0.83673	0.0167	10	0.87932	D	0	.	16.2661	0.82579	0.0:0.0:1.0:0.0	.	333	Q9Y2A9	B3GN3_HUMAN	Y	333	ENSP00000321874:D333Y	ENSP00000321874:D333Y	D	+	1	0	B3GNT3	17783809	1.000000	0.71417	0.999000	0.59377	0.560000	0.35617	4.537000	0.60643	2.452000	0.82932	0.561000	0.74099	GAC		0.622	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466877.1	NM_014256		13	114	1	0	2.32078e-09	1	2.32078e-09	13	114					T	17922809	G	T	17922809	3	4	39	1	0	0	0	0	1	0	0	0	1258	1290	45	4	1003	4	B3GNT3	19	17922809	Missense_Mutation	SNP	G	TCGA-BJ-A45G-01A-11D-A23U-08	487003	17922809	41206174	18	1031											
KRTAP10-12	386685	broad.mit.edu	37	chr21	46117516	46117516	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcttcttcatgctgccagCagtctagctgccagccagct	8	15	4	0			TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr21:46117516C>T	ENST00000400365.3	+	1	430	c.400C>T	c.(400-402)Cag>Tag	p.Q134*	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	134	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(8)	9						ATGCTGCCAGCAGTCTAGCTG	0.617																																						ENST00000400365.3																			0				large_intestine(1)|lung(8)	9						c.(400-402)Cag>Tag		keratin associated protein 10-12							140	142	141					21																	46117516		2203	4300	6503	SO:0001587	stop_gained	386685					keratin filament		g.chr21:46117516C>T	AB076364	CCDS42967.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000189169	ENSG00000189169		"Keratin associated proteins"	20533	protein-coding gene	gene with protein product			"keratin associated protein 18-12"	KRTAP18-12			Standard	NM_198699		Approved	KRTAP18.12, KAP10.12	uc002zfw.1	P60413	OTTHUMG00000057629	ENST00000400365.3:c.400C>T	21.37:g.46117516C>T	ENSP00000383216:p.Gln134*					TSPEAR_ENST00000323084.4_Intron	p.Q134*	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN			1	430	+			134			19 X 5 AA repeats of C-C-X(3).		B2RPA3	Nonsense_Mutation	SNP	ENST00000400365.3	37	c.400C>T	CCDS42967.1	.	.	.	.	.	.	.	.	.	.	c	10.77	1.443271	0.25987	.	.	ENSG00000189169	ENST00000400365	.	.	.	2.75	1.81	0.25067	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	6.9112	0.24336	0.0:0.8464:0.0:0.1536	.	.	.	.	X	134	.	ENSP00000383216:Q134X	Q	+	1	0	KRTAP10-12	44941944	0.000000	0.05858	0.814000	0.32528	0.061000	0.15899	-0.511000	0.06321	1.248000	0.43934	0.298000	0.19748	CAG		0.617	KRTAP10-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128032.1	NM_198699		6	122	0	0	0	1	0	6	122					T	46117516	C	T	46117516	4	4	39	1	0	0	0	0	0	1	0	0	8508	711	25	2	402	2	KRTAP10-12	21	46117516	Nonsense_Mutation	SNP	C	TCGA-BJ-A45G-01A-11D-A23U-08		46117516	2012379	19	1032											
LRCH2	57631	broad.mit.edu	37	chrX	114414309	114414309	+	Frame_Shift_Del	DEL	A	A	-													acttgaatctcattgcagctAatatcctaaggagaacaata							TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	d962e1b5-46ff-4ce3-8372-69616984a546	g.chrX:114414309delA	ENST00000317135.8	-	4	657	c.627delT	c.(625-627)attfs	p.I209fs	LRCH2_ENST00000538422.1_Frame_Shift_Del_p.I209fs	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	209										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						CATTGCAGCTAATATCCTAAG	0.279																																						ENST00000317135.8																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						c.(625-627)atfs		leucine-rich repeats and calponin homology (CH) domain containing 2							43	36	38					X																	114414309		1790	4047	5837	SO:0001589	frameshift_variant	57631							g.chrX:114414309delA	AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.627delT	X.37:g.114414309delA	ENSP00000325091:p.Ile209fs					LRCH2_ENST00000538422.1_Frame_Shift_Del_p.I209fs	p.I209fs	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN			4	657	-			209					F5H2T1|Q08AD5|Q9HA88|Q9P233	Frame_Shift_Del	DEL	ENST00000317135.8	37	c.627delT	CCDS48155.1																																																																																				0.279	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057971.2	NM_020871		2	4						2	4	---	---	---	---	-	114414309	A	-	114414309	7	5	39	1	0	1	0	1	0	0	0	0	8933	358	13	0	1742	0	LRCH2	23	114414309	Frame_Shift_Del	DEL	A	TCGA-BJ-A45G-01A-11D-A23U-08		114414309	40856251	20	1033											
PPP1R12B	4660	broad.mit.edu	37	chr1	202531948	202531948	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctacaaccagtgattcttaCggtgaccgggcttcagcaag	10	12	2	2	rs375992469		TCGA-BJ-A45H-01A-12D-A23U-08	TCGA-BJ-A45H-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bdbc383-8f81-410a-833e-1f039ceabddf	8cb61ce1-4085-4752-9f1e-91d7c1fee6ab	g.chr1:202531948C>T	ENST00000608999.1	+	20	2703	c.2550C>T	c.(2548-2550)taC>taT	p.Y850Y	PPP1R12B_ENST00000391959.3_Silent_p.Y76Y|PPP1R12B_ENST00000336894.4_Silent_p.Y850Y|PPP1R12B_ENST00000367270.4_Silent_p.Y76Y|PPP1R12B_ENST00000290419.5_3'UTR	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	850					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			GTGATTCTTACGGTGACCGGG	0.493																																						ENST00000406302.3																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41						c.(2548-2550)taC>taT		protein phosphatase 1, regulatory subunit 12B							52	61	58					1																	202531948		2203	4300	6503	SO:0001819	synonymous_variant	4660				regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	g.chr1:202531948C>T	AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7619	protein-coding gene	gene with protein product	"myosin phosphatase regulatory subunit", "myosin phosphatase, target subunit 2"	603768	"protein phosphatase 1, regulatory (inhibitor) subunit 12B"	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.2550C>T	1.37:g.202531948C>T						PPP1R12B_ENST00000336894.4_Silent_p.Y850Y|PPP1R12B_ENST00000367270.4_Silent_p.Y76Y|PPP1R12B_ENST00000391959.3_Silent_p.Y76Y|PPP1R12B_ENST00000290419.5_3'UTR	p.Y850Y	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		20	2703	+			850					A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Silent	SNP	ENST00000608999.1	37	c.2550C>T	CCDS1426.1																																																																																				0.493	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105		4	135	0	0	0	0.000248	0	4	135					T	202531948	C	T	202531948	2	4	40	1	0	0	0	0	0	0	0	1	12355	547	19	1		1	PPP1R12B	1	202531948	Silent	SNP	C	TCGA-BJ-A45H-01A-12D-A23U-08		202531948	46718673	1	1034											
NPAS2	4862	broad.mit.edu	37	chr2	101554284	101554284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtctctgacagtatcacgCctctccttgggcatttaccg	8	13	3	1			TCGA-BJ-A45H-01A-12D-A23U-08	TCGA-BJ-A45H-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bdbc383-8f81-410a-833e-1f039ceabddf	8cb61ce1-4085-4752-9f1e-91d7c1fee6ab	g.chr2:101554284C>T	ENST00000335681.5	+	5	628	c.343C>T	c.(343-345)Cct>Tct	p.P115S	NPAS2_ENST00000542504.1_Missense_Mutation_p.P180S|NPAS2_ENST00000486017.1_3'UTR	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	115	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGTATCACGCCTCTCCTTGG	0.453																																						ENST00000335681.5																			0				cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(343-345)Cct>Tct		neuronal PAS domain protein 2							248	213	225					2																	101554284		2203	4300	6503	SO:0001583	missense	4862				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:101554284C>T	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"Basic helix-loop-helix proteins"	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.343C>T	2.37:g.101554284C>T	ENSP00000338283:p.Pro115Ser					NPAS2_ENST00000542504.1_Missense_Mutation_p.P180S|NPAS2_ENST00000486017.1_3'UTR	p.P115S	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN			5	628	+			115			PAS 1.		Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	ENST00000335681.5	37	c.343C>T	CCDS2048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.101|7.101	0.574021|0.574021	0.13623|0.13623	.|.	.|.	ENSG00000170485|ENSG00000170485	ENST00000448812|ENST00000335681;ENST00000542504;ENST00000451740	.|T;T;T	.|0.16196	.|2.36;2.36;2.36	5.93|5.93	5.93|5.93	0.95920|0.95920	.|PAS (3);PAS fold (1);	.|0.058507	.|0.64402	.|D	.|0.000001	T|T	0.07683|0.07683	0.0193|0.0193	N|N	0.02539|0.02539	-0.55|-0.55	0.54753|0.54753	D|D	0.999985|0.999985	.|B;B	.|0.30973	.|0.257;0.302	.|B;B	.|0.36666	.|0.147;0.23	T|T	0.21759|0.21759	-1.0236|-1.0236	5|10	.|0.02654	.|T	.|1	.|.	14.1654|14.1654	0.65473|0.65473	0.0:0.9279:0.0:0.0721|0.0:0.9279:0.0:0.0721	.|.	.|180;115	.|F5H027;Q99743	.|.;NPAS2_HUMAN	V|S	104|115;180;101	.|ENSP00000338283:P115S;ENSP00000438428:P180S;ENSP00000395265:P101S	.|ENSP00000338283:P115S	A|P	+|+	2|1	0|0	NPAS2|NPAS2	100920716|100920716	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.248000|4.248000	0.58760|0.58760	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	GCC|CCT		0.453	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3			14	161	0	0	0	0.00245	0	14	161					T	101554284	C	T	101554284	3	4	40	1	0	0	0	0	1	0	0	0	10563	739	26	2	357	2	NPAS2	2	101554284	Missense_Mutation	SNP	C	TCGA-BJ-A45H-01A-12D-A23U-08		101554284	141645089	2	1035											
AKD1	221264	broad.mit.edu	37	chr6	109954219	109954219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actttacatggtggtcctggCataggtggaagcagataggg	15	6	0	1			TCGA-BJ-A45H-01A-12D-A23U-08	TCGA-BJ-A45H-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bdbc383-8f81-410a-833e-1f039ceabddf	8cb61ce1-4085-4752-9f1e-91d7c1fee6ab	g.chr6:109954219C>T	ENST00000424296.2	-	12	1237	c.1161G>A	c.(1159-1161)atG>atA	p.M387I	AK9_ENST00000341338.6_5'UTR|AK9_ENST00000285397.5_Missense_Mutation_p.M387I|AK9_ENST00000368948.2_Missense_Mutation_p.M387I	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	387					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)										GTGGTCCTGGCATAGGTGGAA	0.373																																						ENST00000424296.2																			0											c.(1159-1161)atG>atA		adenylate kinase 9							139	128	132					6																	109954219		2203	4300	6503	SO:0001583	missense	221264							g.chr6:109954219C>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.1161G>A	6.37:g.109954219C>T	ENSP00000410186:p.Met387Ile					AK9_ENST00000285397.5_Missense_Mutation_p.M387I|AK9_ENST00000368948.2_Missense_Mutation_p.M387I|AK9_ENST00000341338.6_5'UTR	p.M387I	NM_001145128.2	NP_001138600.2					12	1237	-								A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	ENST00000424296.2	37	c.1161G>A	CCDS55048.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.249544	0.80024	.	.	ENSG00000155085	ENST00000424296;ENST00000368948;ENST00000285397	T;T;T	0.64991	-0.13;-0.08;2.69	5.6	5.6	0.85130	.	0.037370	0.85682	D	0.000000	T	0.35508	0.0934	N	0.04768	-0.165	0.80722	D	1	P;B	0.49307	0.922;0.327	P;B	0.45610	0.487;0.394	T	0.32241	-0.9914	9	.	.	.	-18.7395	19.5908	0.95509	0.0:1.0:0.0:0.0	.	387;387	Q5TCS8-2;Q5TCS8	.;AKD1_HUMAN	I	387	ENSP00000410186:M387I;ENSP00000357944:M387I;ENSP00000285397:M387I	.	M	-	3	0	AKD1	110060912	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	5.412000	0.66392	2.628000	0.89032	0.467000	0.42956	ATG		0.373	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		14	36	0	0	0	0.004007	0	14	36					T	109954219	C	T	109954219	3	4	40	1	0	0	0	0	1	0	0	0	460	710	25	2	4706	2	AKD1	6	109954219	Missense_Mutation	SNP	C	TCGA-BJ-A45H-01A-12D-A23U-08		109954219	61160848	3	1036											
STAG3	10734	broad.mit.edu	37	chr7	99780445	99780445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcaatgctgtgaaagccGccaaaagtgacatgcaggta	10	8	1	2			TCGA-BJ-A45H-01A-12D-A23U-08	TCGA-BJ-A45H-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bdbc383-8f81-410a-833e-1f039ceabddf	8cb61ce1-4085-4752-9f1e-91d7c1fee6ab	g.chr7:99780445G>A	ENST00000426455.1	+	4	726	c.319G>A	c.(319-321)Gcc>Acc	p.A107T	STAG3_ENST00000394018.2_Missense_Mutation_p.A107T|STAG3_ENST00000317296.5_Missense_Mutation_p.A107T	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	107					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGTGAAAGCCGCCAAAAGTGA	0.463																																						ENST00000426455.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66						c.(319-321)Gcc>Acc		stromal antigen 3							242	238	239					7																	99780445		2203	4300	6503	SO:0001583	missense	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99780445G>A	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.319G>A	7.37:g.99780445G>A	ENSP00000400359:p.Ala107Thr					STAG3_ENST00000394018.2_Missense_Mutation_p.A107T|STAG3_ENST00000317296.5_Missense_Mutation_p.A107T	p.A107T			Q9UJ98	STAG3_HUMAN			4	726	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		107					A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	c.319G>A	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112214	0.77210	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000416412;ENST00000339784;ENST00000317296;ENST00000422690;ENST00000439782	T;T;T	0.28069	1.93;1.63;1.93	5.32	5.32	0.75619	.	0.000000	0.43919	D	0.000512	T	0.52869	0.1761	M	0.68952	2.095	0.42720	D	0.993672	D;B	0.89917	1.0;0.32	D;B	0.64506	0.926;0.056	T	0.54860	-0.8230	10	0.87932	D	0	-15.4632	16.5495	0.84470	0.0:0.0:1.0:0.0	.	107;107	B4DZ10;Q9UJ98	.;STAG3_HUMAN	T	107	ENSP00000400359:A107T;ENSP00000377586:A107T;ENSP00000319318:A107T	ENSP00000319318:A107T	A	+	1	0	STAG3	99618381	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.209000	0.72171	2.773000	0.95371	0.585000	0.79938	GCC		0.463	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		5	303	0	0	0	0.000602	0	5	303					A	99780445	G	A	99780445	3	1	40	1	0	0	0	0	1	0	0	0	15243	1087	38	1	329	1	STAG3	7	99780445	Missense_Mutation	SNP	G	TCGA-BJ-A45H-01A-12D-A23U-08		99780445	59358218	4	1037											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A45H-01A-12D-A23U-08	TCGA-BJ-A45H-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bdbc383-8f81-410a-833e-1f039ceabddf	8cb61ce1-4085-4752-9f1e-91d7c1fee6ab	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		14	50	0	0	0	0.00245	0	14	50					T	140453136	A	T	140453136	3	4	40	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A45H-01A-12D-A23U-08	40672691	140453136	18685527	5	1038											
CHD7	55636	broad.mit.edu	37	chr8	61735125	61735125	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atccagtccattacatttctCtatgagatatatttgaaagg	6	7	1	2			TCGA-BJ-A45H-01A-12D-A23U-08	TCGA-BJ-A45H-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bdbc383-8f81-410a-833e-1f039ceabddf	8cb61ce1-4085-4752-9f1e-91d7c1fee6ab	g.chr8:61735125C>T	ENST00000423902.2	+	12	3500	c.3021C>T	c.(3019-3021)ctC>ctT	p.L1007L	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Silent_p.L1007L	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1007	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TTACATTTCTCTATGAGATAT	0.393																																						ENST00000423902.2																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(3019-3021)ctC>ctT		chromodomain helicase DNA binding protein 7							131	129	129					8																	61735125		1825	4080	5905	SO:0001819	synonymous_variant	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61735125C>T	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.3021C>T	8.37:g.61735125C>T						CHD7_ENST00000525508.1_Silent_p.L1007L|CHD7_ENST00000524602.1_Intron	p.L1007L	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		12	3500	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1007			Helicase ATP-binding.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	c.3021C>T	CCDS47865.1																																																																																				0.393	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		18	132	0	0	0	0.001523	0	18	132					T	61735125	C	T	61735125	2	4	40	1	0	0	0	0	0	0	0	1	3330	900	32	2		2	CHD7	8	61735125	Silent	SNP	C	TCGA-BJ-A45H-01A-12D-A23U-08		61735125	84628897	6	1039											
TCF7L2	6934	broad.mit.edu	37	chr10	114903693	114903693	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccctcaggaatcccacggCctccgcaccctccagatata	6	18	1	1			TCGA-BJ-A45H-01A-12D-A23U-08	TCGA-BJ-A45H-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bdbc383-8f81-410a-833e-1f039ceabddf	8cb61ce1-4085-4752-9f1e-91d7c1fee6ab	g.chr10:114903693C>T	ENST00000355995.4	+	7	1204	c.697C>T	c.(697-699)Cct>Tct	p.P233S	TCF7L2_ENST00000352065.5_Missense_Mutation_p.P210S|TCF7L2_ENST00000536810.1_Missense_Mutation_p.P233S|TCF7L2_ENST00000538897.1_Missense_Mutation_p.P233S|TCF7L2_ENST00000369389.1_5'UTR|TCF7L2_ENST00000545257.1_Missense_Mutation_p.P233S|TCF7L2_ENST00000355717.4_Missense_Mutation_p.P257S|TCF7L2_ENST00000534894.1_Missense_Mutation_p.P233S|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000543371.1_Missense_Mutation_p.P233S|TCF7L2_ENST00000349937.2_Missense_Mutation_p.P233S|TCF7L2_ENST00000369397.4_Missense_Mutation_p.P210S|TCF7L2_ENST00000369395.1_Missense_Mutation_p.P258S			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	233	Mediates interaction with MAD2L2.|Pro-rich.				blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|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)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		AATCCCACGGCCTCCGCACCC	0.522			T	VTI1A	colorectal																																	ENST00000545257.1				Dom	yes		10	10q25.3	6934	T	transcription factor 7-like 2			E	VTI1A		colorectal	VTI1A/TCF7L2(8)	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41						c.(697-699)Cct>Tct		transcription factor 7-like 2 (T-cell specific, HMG-box)							79	67	71					10																	114903693		2203	4300	6503	SO:0001583	missense	6934				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr10:114903693C>T	X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.697C>T	10.37:g.114903693C>T	ENSP00000348274:p.Pro233Ser					TCF7L2_ENST00000369395.1_Missense_Mutation_p.P258S|TCF7L2_ENST00000352065.5_Missense_Mutation_p.P210S|TCF7L2_ENST00000536810.1_Missense_Mutation_p.P233S|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000543371.1_Missense_Mutation_p.P233S|TCF7L2_ENST00000538897.1_Missense_Mutation_p.P233S|TCF7L2_ENST00000349937.2_Missense_Mutation_p.P233S|TCF7L2_ENST00000355717.4_Missense_Mutation_p.P257S|TCF7L2_ENST00000369389.1_5'UTR|TCF7L2_ENST00000369397.4_Missense_Mutation_p.P210S|TCF7L2_ENST00000534894.1_Missense_Mutation_p.P233S|TCF7L2_ENST00000355995.4_Missense_Mutation_p.P233S	p.P233S			Q9NQB0	TF7L2_HUMAN		Epithelial(162;0.00554)|all cancers(201;0.02)	7	1204	+		Breast(234;0.058)|Colorectal(252;0.0615)	233			Mediates interaction with MAD2L2.|Pro-rich.		B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Missense_Mutation	SNP	ENST00000355995.4	37	c.697C>T		.	.	.	.	.	.	.	.	.	.	c	23.1	4.369547	0.82463	.	.	ENSG00000148737	ENST00000355995;ENST00000545257;ENST00000543371;ENST00000536810;ENST00000355717;ENST00000538897;ENST00000534894;ENST00000369397;ENST00000349937;ENST00000352065;ENST00000369395	D;D;D;D;D;D;D;D;D	0.99207	-5.0;-5.0;-5.0;-5.01;-5.53;-5.56;-5.54;-5.0;-5.54	5.26	4.35	0.52113	CTNNB1 binding, N-teminal (1);	0.110472	0.64402	D	0.000007	D	0.99202	0.9723	M	0.61703	1.905	0.80722	D	1	B;D;B;P;P;P;D;D;D;B;P;P;B;D;D;D;B;B;P	0.89917	0.071;0.974;0.41;0.869;0.933;0.87;0.994;0.964;0.971;0.051;0.941;0.621;0.447;1.0;0.999;0.971;0.117;0.393;0.629	B;P;B;P;P;P;D;P;P;B;P;P;B;D;D;P;B;B;P	0.87578	0.089;0.88;0.349;0.796;0.796;0.593;0.912;0.79;0.739;0.088;0.855;0.593;0.439;0.993;0.998;0.796;0.343;0.406;0.542	D	0.99406	1.0929	10	0.59425	D	0.04	-9.0972	16.1275	0.81404	0.0:0.866:0.134:0.0	.	90;50;127;233;104;152;210;210;210;176;233;210;210;210;257;210;233;210;210	B4DJZ2;B7Z9Z6;B4DWD5;Q9NQB0;C6ZRK4;C6ZRJ6;C6ZRJ9;F8W742;B4DRJ8;C6ZRK2;B9X074;C6ZRJ8;C6ZRK1;C6ZRJ7;F8W7T5;C6ZRK5;Q9NQB0-7;Q9NQB0-10;Q6FHW4	.;.;.;TF7L2_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	S	233;233;233;233;257;233;233;210;233;210;258	ENSP00000348274:P233S;ENSP00000440547:P233S;ENSP00000444972:P233S;ENSP00000446238:P233S;ENSP00000347949:P257S;ENSP00000446172:P233S;ENSP00000443626:P233S;ENSP00000358404:P210S;ENSP00000344823:P210S	ENSP00000298692:P233S	P	+	1	0	TCF7L2	114893683	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.028000	0.70889	1.330000	0.45394	0.655000	0.94253	CCT		0.522	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		15	38	0	0	0	0.004007	0	15	38					T	114903693	C	T	114903693	3	4	40	1	0	0	0	0	1	0	0	0	15695	739	26	2	868	2	TCF7L2	10	114903693	Missense_Mutation	SNP	C	TCGA-BJ-A45H-01A-12D-A23U-08		114903693	20631054	7	1040											
MKI67	4288	broad.mit.edu	37	chr10	129906562	129906562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taatgtctttctcatcacctCctgctggtttgggcgtaagc	9	11	3	0			TCGA-BJ-A45H-01A-12D-A23U-08	TCGA-BJ-A45H-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bdbc383-8f81-410a-833e-1f039ceabddf	8cb61ce1-4085-4752-9f1e-91d7c1fee6ab	g.chr10:129906562C>T	ENST00000368654.3	-	13	3917	c.3542G>A	c.(3541-3543)gGa>gAa	p.G1181E	MKI67_ENST00000368653.3_Missense_Mutation_p.G821E	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1181	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTCATCACCTCCTGCTGGTTT	0.468																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(3541-3543)gGa>gAa		marker of proliferation Ki-67							267	254	259					10																	129906562		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129906562C>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3542G>A	10.37:g.129906562C>T	ENSP00000357643:p.Gly1181Glu					MKI67_ENST00000368653.3_Missense_Mutation_p.G821E	p.G1181E	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	3917	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1181			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.3542G>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.993908	0.00439	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.01804	4.63;4.63	2.61	-5.23	0.02798	.	2.090630	0.02647	N	0.105986	T	0.01124	0.0037	N	0.25890	0.77	0.09310	N	1	B;B;B	0.13145	0.001;0.007;0.005	B;B;B	0.15484	0.001;0.013;0.004	T	0.47749	-0.9093	10	0.02654	T	1	.	0.189	0.00132	0.2608:0.1806:0.2667:0.2919	.	1180;821;1181	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	E	1181;821;1180	ENSP00000357643:G1181E;ENSP00000357642:G821E	ENSP00000357642:G821E	G	-	2	0	MKI67	129796552	0.522000	0.26266	0.000000	0.03702	0.006000	0.05464	0.185000	0.16958	-2.123000	0.00823	-0.802000	0.03209	GGA		0.468	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		15	261	0	0	0	0.00245	0	15	261					T	129906562	C	T	129906562	3	4	40	1	0	0	0	0	1	0	0	0	9598	855	30	2	6240	2	MKI67	10	129906562	Missense_Mutation	SNP	C	TCGA-BJ-A45H-01A-12D-A23U-08	15002869	129906562	5628185	8	1041											
TMEM138	51524	broad.mit.edu	37	chr11	61136166	61136166	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggctgcgcaaggagttcatGcaagttcgaaggtgacctct	13	9	2	1			TCGA-BJ-A45H-01A-12D-A23U-08	TCGA-BJ-A45H-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bdbc383-8f81-410a-833e-1f039ceabddf	8cb61ce1-4085-4752-9f1e-91d7c1fee6ab	g.chr11:61136166G>C	ENST00000278826.6	+	5	1033	c.474G>C	c.(472-474)atG>atC	p.M158I	TMEM138_ENST00000381787.2_Missense_Mutation_p.M100I	NM_016464.4	NP_057548.1	Q9NPI0	TM138_HUMAN	transmembrane protein 138	158					cilium assembly (GO:0042384)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|vacuole (GO:0005773)				central_nervous_system(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						AGGAGTTCATGCAAGTTCGAA	0.498																																						ENST00000278826.6																			0				central_nervous_system(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(472-474)atG>atC		transmembrane protein 138							115	90	99					11																	61136166		2203	4299	6502	SO:0001583	missense	51524					integral to membrane		g.chr11:61136166G>C	AF151030	CCDS8005.1	11q12.2	2014-01-28			ENSG00000149483	ENSG00000149483			26944	protein-coding gene	gene with protein product		614459					Standard	NM_016464		Approved	HSPC196, JBTS16	uc001nrl.2	Q9NPI0	OTTHUMG00000168145	ENST00000278826.6:c.474G>C	11.37:g.61136166G>C	ENSP00000278826:p.Met158Ile					TMEM138_ENST00000381787.2_Missense_Mutation_p.M100I	p.M158I	NM_016464.4	NP_057548.1	Q9NPI0	TM138_HUMAN			5	1033	+			158					A6NGA7|B4E044|Q5JPE1	Missense_Mutation	SNP	ENST00000278826.6	37	c.474G>C	CCDS8005.1	.	.	.	.	.	.	.	.	.	.	G	8.300	0.819696	0.16607	.	.	ENSG00000149483	ENST00000278826;ENST00000381787	D;D	0.87491	-2.26;-2.26	5.95	2.8	0.32819	.	0.503070	0.23571	N	0.046756	T	0.64897	0.2640	N	0.02916	-0.46	0.26228	N	0.979059	B	0.06786	0.001	B	0.01281	0.0	T	0.52675	-0.8544	10	0.31617	T	0.26	.	2.3249	0.04220	0.2416:0.1172:0.4898:0.1515	.	158	Q9NPI0	TM138_HUMAN	I	158;100	ENSP00000278826:M158I;ENSP00000371206:M100I	ENSP00000278826:M158I	M	+	3	0	TMEM138	60892742	0.057000	0.20700	0.999000	0.59377	0.993000	0.82548	-0.703000	0.05063	0.810000	0.34279	0.655000	0.94253	ATG		0.498	TMEM138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398399.2	NM_016464		3	40	0	0	0	0.004672	0	3	40					C	61136166	G	C	61136166	3	2	40	1	0	0	0	0	1	0	0	0	16050	1319	46	4	488	4	TMEM138	11	61136166	Missense_Mutation	SNP	G	TCGA-BJ-A45H-01A-12D-A23U-08		61136166	73870350	9	1042											
SIPA1L1	26037	broad.mit.edu	37	chr14	72117175	72117175	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcaactattgggagagCgagttcggctcaaaggattt	11	7	3	1			TCGA-BJ-A45H-01A-12D-A23U-08	TCGA-BJ-A45H-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bdbc383-8f81-410a-833e-1f039ceabddf	8cb61ce1-4085-4752-9f1e-91d7c1fee6ab	g.chr14:72117175C>G	ENST00000555818.1	+	5	2290	c.1942C>G	c.(1942-1944)Cga>Gga	p.R648G	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R648G|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R123G|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R648G	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	648	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ATTGGGAGAGCGAGTTCGGCT	0.443																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(1942-1944)Cga>Gga		signal-induced proliferation-associated 1 like 1							108	104	106					14																	72117175		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72117175C>G	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.1942C>G	14.37:g.72117175C>G	ENSP00000450832:p.Arg648Gly					SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R648G|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R648G|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R123G	p.R648G	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	5	2290	+			648			Rap-GAP.		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.1942C>G	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751466	0.69533	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413;ENST00000555066	D;D;D;D;D	0.95171	-3.63;-3.63;-3.63;-3.63;-3.63	5.56	4.65	0.58169	Rap/ran-GAP (2);	0.051517	0.85682	D	0.000000	D	0.97810	0.9281	M	0.92738	3.34	0.58432	D	0.999994	D;P;D;D;D	0.76494	0.998;0.88;0.995;0.999;0.997	D;P;D;D;D	0.81914	0.972;0.762;0.949;0.979;0.995	D	0.98903	1.0777	10	0.87932	D	0	-15.1891	15.9431	0.79773	0.1361:0.8639:0.0:0.0	.	123;648;123;648;648	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	G	648;648;648;123;164	ENSP00000370630:R648G;ENSP00000450832:R648G;ENSP00000351352:R648G;ENSP00000440682:R123G;ENSP00000452450:R164G	ENSP00000351352:R648G	R	+	1	2	SIPA1L1	71186928	1.000000	0.71417	0.919000	0.36401	0.863000	0.49368	2.845000	0.48254	1.435000	0.47434	0.655000	0.94253	CGA		0.443	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		8	69	0	0	0	0.00308	0	8	69					G	72117175	C	G	72117175	3	3	40	1	0	0	0	0	1	0	0	0	14329	760	27	4	1956	4	SIPA1L1	14	72117175	Missense_Mutation	SNP	C	TCGA-BJ-A45H-01A-12D-A23U-08		72117175	35232365	10	1043											
PRPF8	10594	broad.mit.edu	37	chr17	1564035	1564035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaccagagggtgaatctaCgattgggaatctggttcagt	12	8	3	2			TCGA-BJ-A45H-01A-12D-A23U-08	TCGA-BJ-A45H-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bdbc383-8f81-410a-833e-1f039ceabddf	8cb61ce1-4085-4752-9f1e-91d7c1fee6ab	g.chr17:1564035C>T	ENST00000572621.1	-	28	4860	c.4595G>A	c.(4594-4596)cGt>cAt	p.R1532H	PRPF8_ENST00000304992.6_Missense_Mutation_p.R1532H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1532	Linker.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GGTGAATCTACGATTGGGAAT	0.502																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(4594-4596)cGt>cAt		pre-mRNA processing factor 8							135	123	127					17																	1564035		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1564035C>T	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.4595G>A	17.37:g.1564035C>T	ENSP00000460348:p.Arg1532His					PRPF8_ENST00000304992.6_Missense_Mutation_p.R1532H	p.R1532H			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	28	4860	-			1532					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.4595G>A	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	c	30	5.051892	0.93793	.	.	ENSG00000174231	ENST00000304992;ENST00000540177	D	0.84873	-1.91	6.17	6.17	0.99709	Pre-mRNA-processing-splicing factor 8, U6-snRNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.94105	0.8110	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.93932	0.7215	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1532	Q6P2Q9	PRP8_HUMAN	H	1532;59	ENSP00000304350:R1532H	ENSP00000304350:R1532H	R	-	2	0	PRPF8	1510785	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.935000	0.70145	2.941000	0.99782	0.655000	0.94253	CGT		0.502	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			5	59	0	0	0	0.000602	0	5	59					T	1564035	C	T	1564035	3	4	40	1	0	0	0	0	1	0	0	0	12575	536	19	1	2472	1	PRPF8	17	1564035	Missense_Mutation	SNP	C	TCGA-BJ-A45H-01A-12D-A23U-08		1564035	79631175	11	1044											
TXNL1	9352	broad.mit.edu	37	chr18	54293600	54293600	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctttcccttacctgacactGatgtacatcgacttccaaga	5	14	0	3			TCGA-BJ-A45H-01A-12D-A23U-08	TCGA-BJ-A45H-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bdbc383-8f81-410a-833e-1f039ceabddf	8cb61ce1-4085-4752-9f1e-91d7c1fee6ab	g.chr18:54293600G>A	ENST00000217515.6	-	2	391	c.187C>T	c.(187-189)Cag>Tag	p.Q63*	TXNL1_ENST00000590954.1_Nonsense_Mutation_p.Q63*|TXNL1_ENST00000540155.1_5'UTR	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1	63	Thioredoxin.				cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	disulfide oxidoreductase activity (GO:0015036)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		ACCTGACACTGATGTACATCG	0.343																																						ENST00000217515.6																			0				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						c.(187-189)Cag>Tag		thioredoxin-like 1							128	134	132					18																	54293600		2203	4300	6503	SO:0001587	stop_gained	9352				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity	g.chr18:54293600G>A	AF003938	CCDS11961.1	18q21.31	2011-01-17	2004-05-06	2004-05-07	ENSG00000091164	ENSG00000091164			12436	protein-coding gene	gene with protein product	"thioredoxin-like, 32kD"	603049	"thioredoxin-like, 32kDa"	TXNL		9473519, 9668102	Standard	NM_004786		Approved	Txl, TRP32	uc002lgg.3	O43396	OTTHUMG00000132722	ENST00000217515.6:c.187C>T	18.37:g.54293600G>A	ENSP00000217515:p.Gln63*					TXNL1_ENST00000590954.1_Nonsense_Mutation_p.Q63*|TXNL1_ENST00000540155.1_5'UTR	p.Q63*	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN		READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)	2	391	-			63			Thioredoxin.			Nonsense_Mutation	SNP	ENST00000217515.6	37	c.187C>T	CCDS11961.1	.	.	.	.	.	.	.	.	.	.	G	37	6.504314	0.97620	.	.	ENSG00000091164	ENST00000217515	.	.	.	5.56	4.68	0.58851	.	0.228496	0.45606	D	0.000347	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.9832	0.80127	0.0:0.1354:0.8646:0.0	.	.	.	.	X	63	.	ENSP00000217515:Q63X	Q	-	1	0	TXNL1	52444598	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	6.696000	0.74598	1.328000	0.45358	0.655000	0.94253	CAG		0.343	TXNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256064.2			7	114	0	0	0	0.00308	0	7	114					A	54293600	G	A	54293600	4	1	40	1	0	0	0	0	0	1	0	0	16801	1299	45	2	710	2	TXNL1	18	54293600	Nonsense_Mutation	SNP	G	TCGA-BJ-A45H-01A-12D-A23U-08		54293600	23783648	12	1045											
LRRC8B	23507	broad.mit.edu	37	chr1	90049454	90049454	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaactgaaaagtaagcttgtGaaaaatgcccaggacaagat	9	6	0	3			TCGA-BJ-A45I-01A-11D-A23U-08	TCGA-BJ-A45I-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5b13884-6885-4ecd-b7a9-21085bca623a	07a372e2-5e4e-4451-94ac-86db0153a21f	g.chr1:90049454G>A	ENST00000330947.2	+	5	1605	c.1245G>A	c.(1243-1245)gtG>gtA	p.V415V	LRRC8B_ENST00000358200.4_Silent_p.V415V|LRRC8B_ENST00000439853.1_Silent_p.V415V|RP5-1007M22.2_ENST00000443562.1_RNA	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	415					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		GTAAGCTTGTGAAAAATGCCC	0.403																																						ENST00000330947.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26						c.(1243-1245)gtG>gtA		leucine rich repeat containing 8 family, member B							74	77	76					1																	90049454		2203	4300	6503	SO:0001819	synonymous_variant	23507					integral to membrane		g.chr1:90049454G>A	AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"T cell activation leucine repeat rich protein"	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.1245G>A	1.37:g.90049454G>A						RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000439853.1_Silent_p.V415V|LRRC8B_ENST00000358200.4_Silent_p.V415V	p.V415V	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN		all cancers(265;0.00515)|Epithelial(280;0.0241)	5	1605	+		all_lung(203;0.17)	415					D3DT28|Q6UY21|Q8N106|Q92627	Silent	SNP	ENST00000330947.2	37	c.1245G>A	CCDS724.1																																																																																				0.403	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	NM_015350		4	54	0	0	0	1	0	4	54					A	90049454	G	A	90049454	2	1	41	1	0	0	0	0	0	0	0	1	9022	1277	45	2		2	LRRC8B	1	90049454	Silent	SNP	G	TCGA-BJ-A45I-01A-11D-A23U-08		90049454	159201167	1	1046											
ANK2	287	broad.mit.edu	37	chr4	114163300	114163300	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcatgtggcttccaaaAgaggaaatacaaacatggtg	10	8	1	1			TCGA-BJ-A45I-01A-11D-A23U-08	TCGA-BJ-A45I-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5b13884-6885-4ecd-b7a9-21085bca623a	07a372e2-5e4e-4451-94ac-86db0153a21f	g.chr4:114163300A>C	ENST00000357077.4	+	9	879	c.826A>C	c.(826-828)Aga>Cga	p.R276R	ANK2_ENST00000394537.3_Silent_p.R276R|ANK2_ENST00000264366.6_Silent_p.R276R|ANK2_ENST00000506722.1_Silent_p.R255R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	276					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GGCTTCCAAAAGAGGAAATAC	0.453																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(826-828)Aga>Cga		ankyrin 2, neuronal							172	157	162					4																	114163300		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114163300A>C	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.826A>C	4.37:g.114163300A>C						ANK2_ENST00000264366.6_Silent_p.R276R|ANK2_ENST00000394537.3_Silent_p.R276R|ANK2_ENST00000506722.1_Silent_p.R255R	p.R276R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	9	879	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	276					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.826A>C	CCDS3702.1																																																																																				0.453	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		14	31	0	0	0	1	0	14	31					C	114163300	A	C	114163300	2	2	41	1	0	0	0	0	0	0	0	1	621	64	3	5		5	ANK2	4	114163300	Silent	SNP	A	TCGA-BJ-A45I-01A-11D-A23U-08		114163300	76990976	2	1047											
PRMT10	90826	broad.mit.edu	37	chr4	148579090	148579090	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttaataacaggaataccaaTcttatcaggctttttagttg	6	6	2	0			TCGA-BJ-A45I-01A-11D-A23U-08	TCGA-BJ-A45I-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5b13884-6885-4ecd-b7a9-21085bca623a	07a372e2-5e4e-4451-94ac-86db0153a21f	g.chr4:148579090T>A	ENST00000322396.6	-	8	1425	c.1183A>T	c.(1183-1185)Att>Ttt	p.I395F	TMEM184C_ENST00000508208.1_Intron|PRMT10_ENST00000541232.1_Missense_Mutation_p.I282F	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		395	SAM-dependent MTase PRMT-type 1. {ECO:0000255|PROSITE-ProRule:PRU01015}.					cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						GGAATACCAATCTTATCAGGC	0.333																																						ENST00000322396.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(1183-1185)Att>Ttt		protein arginine methyltransferase 10 (putative)							67	59	62					4																	148579090		2203	4299	6502	SO:0001583	missense	90826					cytoplasm	binding|protein methyltransferase activity	g.chr4:148579090T>A																												ENST00000322396.6:c.1183A>T	4.37:g.148579090T>A	ENSP00000314396:p.Ile395Phe					PRMT10_ENST00000541232.1_Missense_Mutation_p.I282F|TMEM184C_ENST00000508208.1_Intron	p.I395F	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN			8	1425	-			395					A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Missense_Mutation	SNP	ENST00000322396.6	37	c.1183A>T	CCDS3771.1	.	.	.	.	.	.	.	.	.	.	T	8.268	0.812721	0.16537	.	.	ENSG00000164169	ENST00000322396;ENST00000541232	T;T	0.47177	0.85;0.85	5.51	-0.119	0.13543	.	0.434063	0.25469	N	0.030460	T	0.28433	0.0703	L	0.34521	1.04	0.09310	N	0.999998	B	0.15719	0.014	B	0.18263	0.021	T	0.32719	-0.9896	10	0.02654	T	1	-34.1938	10.3995	0.44220	0.1038:0.0:0.4782:0.418	.	395	Q6P2P2	ANM10_HUMAN	F	395;282	ENSP00000314396:I395F;ENSP00000439508:I282F	ENSP00000314396:I395F	I	-	1	0	PRMT10	148798540	0.037000	0.19845	0.000000	0.03702	0.336000	0.28762	0.078000	0.14761	-0.213000	0.10094	-1.508000	0.00951	ATT		0.333	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1			3	19	0	0	0	1	0	3	19					A	148579090	T	A	148579090	3	1	41	1	0	0	0	0	1	0	0	0	12536	1435	50	5	1374	5	PRMT10	4	148579090	Missense_Mutation	SNP	T	TCGA-BJ-A45I-01A-11D-A23U-08	34415790	148579090	42575186	3	1048											
MAML1	9794	broad.mit.edu	37	chr5	179192842	179192842	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttaatgaggacttcgaggaGaagaaggacccagagtcttc	12	7	1	4			TCGA-BJ-A45I-01A-11D-A23U-08	TCGA-BJ-A45I-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5b13884-6885-4ecd-b7a9-21085bca623a	07a372e2-5e4e-4451-94ac-86db0153a21f	g.chr5:179192842G>A	ENST00000292599.3	+	2	1094	c.831G>A	c.(829-831)gaG>gaA	p.E277E	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)			ACTTCGAGGAGAAGAAGGACC	0.507																																						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.(829-831)gaG>gaA		mastermind-like 1 (Drosophila)							75	79	78					5																	179192842		2203	4300	6503	SO:0001819	synonymous_variant	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.chr5:179192842G>A	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.831G>A	5.37:g.179192842G>A						MAML1_ENST00000503050.1_3'UTR	p.E277E	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	1094	+	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)	277						Silent	SNP	ENST00000292599.3	37	c.831G>A	CCDS34315.1																																																																																				0.507	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		5	60	0	0	0	1	0	5	60					A	179192842	G	A	179192842	2	1	41	1	0	0	0	0	0	0	0	1	9205	933	33	2		2	MAML1	5	179192842	Silent	SNP	G	TCGA-BJ-A45I-01A-11D-A23U-08		179192842	1722418	4	1049											
LRGUK	136332	broad.mit.edu	37	chr7	133868563	133868563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgggaaacgagagcttgCccatcgcctctgcagacagt	12	11	1	2			TCGA-BJ-A45I-01A-11D-A23U-08	TCGA-BJ-A45I-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5b13884-6885-4ecd-b7a9-21085bca623a	07a372e2-5e4e-4451-94ac-86db0153a21f	g.chr7:133868563C>T	ENST00000285928.2	+	11	1361	c.1292C>T	c.(1291-1293)gCc>gTc	p.A431V		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	431	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CGAGAGCTTGCCCATCGCCTC	0.468																																						ENST00000285928.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(1291-1293)gCc>gTc		leucine-rich repeats and guanylate kinase domain containing							216	187	197					7																	133868563		2203	4300	6503	SO:0001583	missense	136332						ATP binding|kinase activity	g.chr7:133868563C>T	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.1292C>T	7.37:g.133868563C>T	ENSP00000285928:p.Ala431Val						p.A431V	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN			11	1361	+			431			Guanylate kinase-like.		Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	c.1292C>T	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021383	0.75275	.	.	ENSG00000155530	ENST00000285928	T	0.41400	1.0	5.83	5.83	0.93111	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.065972	0.64402	D	0.000013	T	0.53834	0.1821	L	0.41492	1.28	0.41143	D	0.985976	D	0.76494	0.999	D	0.70716	0.97	T	0.43048	-0.9415	10	0.30078	T	0.28	-18.1504	15.1086	0.72338	0.0:0.8578:0.1421:0.0	.	431	Q96M69	LRGUK_HUMAN	V	431	ENSP00000285928:A431V	ENSP00000285928:A431V	A	+	2	0	LRGUK	133519103	0.986000	0.35501	0.997000	0.53966	0.924000	0.55760	4.010000	0.57117	2.763000	0.94921	0.563000	0.77884	GCC		0.468	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		6	103	0	0	0	1	0	6	103					T	133868563	C	T	133868563	3	4	41	1	0	0	0	0	1	0	0	0	8943	739	26	2	1334	2	LRGUK	7	133868563	Missense_Mutation	SNP	C	TCGA-BJ-A45I-01A-11D-A23U-08		133868563	25270100	5	1050											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A45I-01A-11D-A23U-08	TCGA-BJ-A45I-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5b13884-6885-4ecd-b7a9-21085bca623a	07a372e2-5e4e-4451-94ac-86db0153a21f	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		7	36	0	0	0	1	0	7	36					T	140453136	A	T	140453136	3	4	41	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A45I-01A-11D-A23U-08	6584573	140453136	18685527	6	1051											
CHRNA2	1135	broad.mit.edu	37	chr8	27324815	27324815	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagagatgtgatgttgccaAaatcagtggggttccagcgc	14	7	1	3			TCGA-BJ-A45I-01A-11D-A23U-08	TCGA-BJ-A45I-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5b13884-6885-4ecd-b7a9-21085bca623a	07a372e2-5e4e-4451-94ac-86db0153a21f	g.chr8:27324815A>G	ENST00000520933.2	-	4	533	c.380T>C	c.(379-381)tTt>tCt	p.F127S	CHRNA2_ENST00000407991.1_Missense_Mutation_p.F127S|CHRNA2_ENST00000240132.2_Missense_Mutation_p.F112S			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	127					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transport (GO:0006811)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339)	GATGTTGCCAAAATCAGTGGG	0.542																																						ENST00000407991.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(379-381)tTt>tCt		cholinergic receptor, nicotinic, alpha 2 (neuronal)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)						118	114	116					8																	27324815		2203	4300	6503	SO:0001583	missense	0					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:27324815A>G	U62431	CCDS6059.1, CCDS64856.1	8p21	2012-02-11	2006-02-01		ENSG00000120903	ENSG00000120903		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1956	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 2 (neuronal)"	118502	"cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)"			1505988	Standard	NM_000742		Approved		uc010lur.3	Q15822	OTTHUMG00000102083	ENST00000520933.2:c.380T>C	8.37:g.27324815A>G	ENSP00000429616:p.Phe127Ser					CHRNA2_ENST00000520933.2_Missense_Mutation_p.F127S|CHRNA2_ENST00000240132.2_Missense_Mutation_p.F112S	p.F127S	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	5	988	-		Ovarian(32;2.61e-05)	127					A8KAX3|B4DK19|J3KMY9|Q9HAQ3	Missense_Mutation	SNP	ENST00000520933.2	37	c.380T>C	CCDS6059.1	.	.	.	.	.	.	.	.	.	.	A	15.23	2.771163	0.49680	.	.	ENSG00000120903	ENST00000407991;ENST00000520933;ENST00000240132	T;T;T	0.79352	-1.26;-1.26;-1.26	5.52	4.24	0.50183	Neurotransmitter-gated ion-channel ligand-binding (3);	0.167516	0.53938	D	0.000050	D	0.85039	0.5606	M	0.84511	2.7	0.43662	D	0.996085	P;P	0.41102	0.738;0.738	P;P	0.53809	0.735;0.735	D	0.86682	0.1917	10	0.87932	D	0	.	9.1246	0.36807	0.7621:0.0:0.0:0.2379	.	112;127	B4DK19;Q15822	.;ACHA2_HUMAN	S	127;127;112	ENSP00000385026:F127S;ENSP00000429616:F127S;ENSP00000240132:F112S	ENSP00000240132:F112S	F	-	2	0	CHRNA2	27380732	0.999000	0.42202	0.381000	0.26106	0.015000	0.08874	3.806000	0.55583	2.091000	0.63221	0.533000	0.62120	TTT		0.542	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376125.4			3	29	0	0	0	1	0	3	29					G	27324815	A	G	27324815	3	3	41	1	0	0	0	0	1	0	0	0	3383	14	1	3	1221	3	CHRNA2	8	27324815	Missense_Mutation	SNP	A	TCGA-BJ-A45I-01A-11D-A23U-08		27324815	119039207	7	1052											
SUFU	51684	broad.mit.edu	37	chr10	104309838	104309838	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgcagagttaatgcagggCttggcacgatacgtgttcca	12	11	0	1			TCGA-BJ-A45I-01A-11D-A23U-08	TCGA-BJ-A45I-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5b13884-6885-4ecd-b7a9-21085bca623a	07a372e2-5e4e-4451-94ac-86db0153a21f	g.chr10:104309838C>T	ENST00000369902.3	+	3	595	c.429C>T	c.(427-429)ggC>ggT	p.G143G	SUFU_ENST00000369899.2_Silent_p.G143G|SUFU_ENST00000423559.2_Silent_p.G143G	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	143					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		TAATGCAGGGCTTGGCACGAT	0.537			"D, F, S"		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation																													ENST00000369902.3			yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	"D, F, S"	suppressor of fused homolog (Drosophila)			O		medulloblastoma	medulloblastoma		0				breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24						c.(427-429)ggC>ggT		suppressor of fused homolog (Drosophila)							104	96	98					10																	104309838		2203	4300	6503	SO:0001819	synonymous_variant	51684	Medulloblastoma, associated with Germline SUFU Mutation	Familial Cancer Database		negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding	g.chr10:104309838C>T	AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.429C>T	10.37:g.104309838C>T						SUFU_ENST00000369899.2_Silent_p.G143G|SUFU_ENST00000423559.2_Silent_p.G143G	p.G143G	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)	3	595	+		Colorectal(252;0.207)	143					Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Silent	SNP	ENST00000369902.3	37	c.429C>T	CCDS7537.1																																																																																				0.537	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050089.1	NM_016169		4	41	0	0	0	1	0	4	41					T	104309838	C	T	104309838	2	4	41	1	0	0	0	0	0	0	0	1	15367	784	28	2		2	SUFU	10	104309838	Silent	SNP	C	TCGA-BJ-A45I-01A-11D-A23U-08		104309838	31224909	8	1053											
C11orf58	10944	broad.mit.edu	37	chr11	16760369	16760369	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccgcatggggtgaagcgttCagcctccccagacgacgatg	13	14	1	2			TCGA-BJ-A45I-01A-11D-A23U-08	TCGA-BJ-A45I-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5b13884-6885-4ecd-b7a9-21085bca623a	07a372e2-5e4e-4451-94ac-86db0153a21f	g.chr11:16760369C>T	ENST00000228136.4	+	1	422	c.44C>T	c.(43-45)tCa>tTa	p.S15L	C11orf58_ENST00000527893.1_Intron|C11orf58_ENST00000525684.1_Missense_Mutation_p.S15L|C11orf58_ENST00000422258.2_5'UTR			O00193	SMAP_HUMAN	chromosome 11 open reading frame 58	15										NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)	7						GTGAAGCGTTCAGCCTCCCCA	0.597																																						ENST00000228136.4																			0				NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)	7						c.(43-45)tCa>tTa		chromosome 11 open reading frame 58							55	55	55					11																	16760369		2200	4294	6494	SO:0001583	missense	10944							g.chr11:16760369C>T	BC007103	CCDS7822.1	11p15.1	2012-05-30			ENSG00000110696	ENSG00000110696			16990	protein-coding gene	gene with protein product	"small acidic protein"					9263035	Standard	NM_014267		Approved	SMAP	uc001mmk.2	O00193	OTTHUMG00000165910	ENST00000228136.4:c.44C>T	11.37:g.16760369C>T	ENSP00000228136:p.Ser15Leu					C11orf58_ENST00000527893.1_Intron|C11orf58_ENST00000422258.2_5'UTR|C11orf58_ENST00000525684.1_Missense_Mutation_p.S15L	p.S15L			O00193	SMAP_HUMAN			1	422	+			15					B2RD28	Missense_Mutation	SNP	ENST00000228136.4	37	c.44C>T	CCDS7822.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613371	0.87359	.	.	ENSG00000110696	ENST00000228136;ENST00000524439;ENST00000528634;ENST00000525684	.	.	.	5.88	5.88	0.94601	.	0.222216	0.38959	N	0.001511	T	0.62085	0.2399	N	0.19112	0.55	0.80722	D	1	D	0.57899	0.981	D	0.66351	0.943	T	0.63269	-0.6675	9	0.49607	T	0.09	.	15.7386	0.77866	0.0:1.0:0.0:0.0	.	15	O00193	SMAP_HUMAN	L	15	.	ENSP00000228136:S15L	S	+	2	0	C11orf58	16716945	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.513000	0.53414	2.784000	0.95788	0.655000	0.94253	TCA		0.597	C11orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387023.2	NM_014267		3	35	0	0	0	1	0	3	35					T	16760369	C	T	16760369	3	4	41	1	0	0	0	0	1	0	0	0	1651	838	29	2	46	2	C11orf58	11	16760369	Missense_Mutation	SNP	C	TCGA-BJ-A45I-01A-11D-A23U-08		16760369	118246147	9	1054											
LRP1	4035	broad.mit.edu	37	chr12	57553666	57553666	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagacaatctgtactggacGgacgatgggcccaaaaagac	13	9	1	2	rs535216477	byFrequency	TCGA-BJ-A45I-01A-11D-A23U-08	TCGA-BJ-A45I-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5b13884-6885-4ecd-b7a9-21085bca623a	07a372e2-5e4e-4451-94ac-86db0153a21f	g.chr12:57553666G>A	ENST00000243077.3	+	12	2323	c.1857G>A	c.(1855-1857)acG>acA	p.T619T		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	619					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)	TGTACTGGACGGACGATGGGC	0.552													G|||	3	0.000599042	0	0	5008	,	,		20374	0.003		0	False		,,,				2504	0					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.(1855-1857)acG>acA		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						148	122	130					12																	57553666		2203	4300	6503	SO:0001819	synonymous_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.chr12:57553666G>A	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.1857G>A	12.37:g.57553666G>A							p.T619T	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	12	2323	+			619					Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.1857G>A	CCDS8932.1																																																																																				0.552	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		4	57	0	0	0	1	0	4	57					A	57553666	G	A	57553666	2	1	41	1	0	0	0	0	0	0	0	1	8951	1103	39	1		1	LRP1	12	57553666	Silent	SNP	G	TCGA-BJ-A45I-01A-11D-A23U-08		57553666	76298229	10	1055											
PDE8A	5151	broad.mit.edu	37	chr15	85669491	85669491	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcttaggactccagagaaCcggaccctaatcaaacgaat	8	11	1	1			TCGA-BJ-A45I-01A-11D-A23U-08	TCGA-BJ-A45I-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5b13884-6885-4ecd-b7a9-21085bca623a	07a372e2-5e4e-4451-94ac-86db0153a21f	g.chr15:85669491C>T	ENST00000310298.4	+	21	2391	c.2139C>T	c.(2137-2139)aaC>aaT	p.N713N	PDE8A_ENST00000394553.1_Silent_p.N713N|PDE8A_ENST00000339708.5_Silent_p.N667N|PDE8A_ENST00000557957.1_Silent_p.N641N			O60658	PDE8A_HUMAN	phosphodiesterase 8A	713	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)	CTCCAGAGAACCGGACCCTAA	0.463																																						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.(2137-2139)aaC>aaT		phosphodiesterase 8A							104	97	99					15																	85669491		2203	4299	6502	SO:0001819	synonymous_variant	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.chr15:85669491C>T	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.2139C>T	15.37:g.85669491C>T						PDE8A_ENST00000557957.1_Silent_p.N641N|PDE8A_ENST00000394553.1_Silent_p.N713N|PDE8A_ENST00000339708.5_Silent_p.N667N	p.N713N			O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		21	2391	+	Colorectal(223;0.227)		713			Catalytic (By similarity).		B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Silent	SNP	ENST00000310298.4	37	c.2139C>T	CCDS10336.1																																																																																				0.463	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		3	49	0	0	0	1	0	3	49					T	85669491	C	T	85669491	2	4	41	1	0	0	0	0	0	0	0	1	11653	506	18	2		2	PDE8A	15	85669491	Silent	SNP	C	TCGA-BJ-A45I-01A-11D-A23U-08		85669491	16861901	11	1056											
CDRT4	284040	broad.mit.edu	37	chr17	15341130	15341130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatcctcatcataggcttgCgggcaaagatgatcttgtta	10	9	3	2			TCGA-BJ-A45I-01A-11D-A23U-08	TCGA-BJ-A45I-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5b13884-6885-4ecd-b7a9-21085bca623a	07a372e2-5e4e-4451-94ac-86db0153a21f	g.chr17:15341130C>T	ENST00000312177.6	-	4	696	c.416G>A	c.(415-417)cGc>cAc	p.R139H	TVP23C-CDRT4_ENST00000522212.2_3'UTR|CDRT4_ENST00000519354.1_5'UTR	NM_001204477.1	NP_001191406.1	Q8N9R6	CDRT4_HUMAN	CMT1A duplicated region transcript 4	139										endometrium(3)|skin(1)	4				UCEC - Uterine corpus endometrioid carcinoma (92;0.0874)		CATAGGCTTGCGGGCAAAGAT	0.488																																						ENST00000312177.6																			0				endometrium(3)|skin(1)	4						c.(415-417)cGc>cAc		CMT1A duplicated region transcript 4							103	85	91					17																	15341130		2203	4300	6503	SO:0001583	missense	284040							g.chr17:15341130C>T	BC029542	CCDS73995.1	17p12	2011-09-28			ENSG00000239704	ENSG00000239704			14383	protein-coding gene	gene with protein product						11381029	Standard	NM_001204477		Approved	FLJ36674	uc002gop.2	Q8N9R6	OTTHUMG00000059070	ENST00000312177.6:c.416G>A	17.37:g.15341130C>T	ENSP00000310031:p.Arg139His					TVP23C-CDRT4_ENST00000522212.2_3'UTR|CDRT4_ENST00000519354.1_5'UTR	p.R139H	NM_001204477.1	NP_001191406.1	Q8N9R6	CDRT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0874)	4	696	-			139					A8MSL9|Q8IZ19	Missense_Mutation	SNP	ENST00000312177.6	37	c.416G>A		.	.	.	.	.	.	.	.	.	.	C	12.34	1.909356	0.33721	.	.	ENSG00000239704	ENST00000520956;ENST00000312177	T	0.38077	1.16	4.98	1.88	0.25563	.	0.505891	0.16231	N	0.223586	T	0.50137	0.1598	M	0.64997	1.995	0.09310	N	1	D	0.89917	1.0	D	0.68039	0.955	T	0.32322	-0.9911	10	0.72032	D	0.01	-8.4552	7.1563	0.25639	0.0:0.7191:0.0:0.2809	.	139	Q8N9R6	CDRT4_HUMAN	H	140;139	ENSP00000310031:R139H	ENSP00000310031:R139H	R	-	2	0	CDRT4	15281855	0.709000	0.27886	0.009000	0.14445	0.110000	0.19582	0.383000	0.20651	0.284000	0.22305	-0.145000	0.13849	CGC		0.488	CDRT4-001	KNOWN	non_canonical_conserved|non_canonical_other|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000130383.7	NM_173622		3	31	0	0	0	1	0	3	31					T	15341130	C	T	15341130	3	4	41	1	0	0	0	0	1	0	0	0	3176	768	27	1	43	1	CDRT4	17	15341130	Missense_Mutation	SNP	C	TCGA-BJ-A45I-01A-11D-A23U-08		15341130	65854080	12	1057											
AKAP8	10270	broad.mit.edu	37	chr19	15484823	15484823	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggccgtagctgtaggttgCgcctgtggtgacactggtgt	17	8	0	1			TCGA-BJ-A45I-01A-11D-A23U-08	TCGA-BJ-A45I-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5b13884-6885-4ecd-b7a9-21085bca623a	07a372e2-5e4e-4451-94ac-86db0153a21f	g.chr19:15484823C>T	ENST00000269701.2	-	4	205	c.145G>A	c.(145-147)Gca>Aca	p.A49T		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	49					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						CTGTAGGTTGCGCCTGTGGTG	0.632																																					GBM(190;1671 2163 3274 27186 30476)	ENST00000269701.2																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						c.(145-147)Gca>Aca		A kinase (PRKA) anchor protein 8							49	55	53					19																	15484823		2203	4300	6503	SO:0001583	missense	10270				signal transduction	nuclear matrix		g.chr19:15484823C>T	Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"A-kinase anchor proteins"	378	protein-coding gene	gene with protein product	"A-kinase anchor protein, 95kDa"	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.145G>A	19.37:g.15484823C>T	ENSP00000269701:p.Ala49Thr						p.A49T	NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN			4	205	-			49						Missense_Mutation	SNP	ENST00000269701.2	37	c.145G>A	CCDS12329.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.345098	0.24426	.	.	ENSG00000105127	ENST00000269701	T	0.48201	0.82	5.63	3.47	0.39725	.	0.248240	0.28618	N	0.014709	T	0.25680	0.0625	L	0.27053	0.805	0.80722	D	1	P	0.36438	0.553	B	0.20955	0.032	T	0.04796	-1.0926	10	0.31617	T	0.26	-10.0396	7.2105	0.25931	0.1839:0.7274:0.0:0.0886	.	49	O43823	AKAP8_HUMAN	T	49	ENSP00000269701:A49T	ENSP00000269701:A49T	A	-	1	0	AKAP8	15345823	0.997000	0.39634	0.456000	0.27044	0.011000	0.07611	2.543000	0.45752	0.664000	0.31047	0.650000	0.86243	GCA		0.632	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858		3	48	0	0	0	1	0	3	48					T	15484823	C	T	15484823	3	4	41	1	0	0	0	0	1	0	0	0	457	768	27	1	1977	1	AKAP8	19	15484823	Missense_Mutation	SNP	C	TCGA-BJ-A45I-01A-11D-A23U-08		15484823	43644160	13	1058											
CDH4	1002	broad.mit.edu	37	chr20	60511927	60511927	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagttccggggaccaagacTacgattacctcaacgactgg	10	13	1	1			TCGA-BJ-A45I-01A-11D-A23U-08	TCGA-BJ-A45I-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5b13884-6885-4ecd-b7a9-21085bca623a	07a372e2-5e4e-4451-94ac-86db0153a21f	g.chr20:60511927T>C	ENST00000360469.5	+	16	2765	c.2677T>C	c.(2677-2679)Tac>Cac	p.Y893H	CDH4_ENST00000543233.1_Missense_Mutation_p.Y819H	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	893					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)			GGACCAAGACTACGATTACCT	0.587																																						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.(2677-2679)Tac>Cac		cadherin 4, type 1, R-cadherin (retinal)							76	60	65					20																	60511927		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60511927T>C	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.2677T>C	20.37:g.60511927T>C	ENSP00000353656:p.Tyr893His					CDH4_ENST00000543233.1_Missense_Mutation_p.Y819H	p.Y893H	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		16	2765	+			893					B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.2677T>C	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.587240	0.86851	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.79940	-1.32;-1.32	4.49	4.49	0.54785	Cadherin, cytoplasmic domain (1);	0.069166	0.64402	D	0.000012	D	0.90130	0.6916	M	0.87827	2.91	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.91509	0.5225	9	.	.	.	.	13.8037	0.63218	0.0:0.0:0.0:1.0	.	893	P55283	CADH4_HUMAN	H	893;801;819	ENSP00000353656:Y893H;ENSP00000443301:Y819H	.	Y	+	1	0	CDH4	59945322	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.812000	0.86109	1.681000	0.50988	0.383000	0.25322	TAC		0.587	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		3	26	0	0	0	1	0	3	26					C	60511927	T	C	60511927	3	2	41	1	0	0	0	0	1	0	0	0	3112	1522	53	3	2739	3	CDH4	20	60511927	Missense_Mutation	SNP	T	TCGA-BJ-A45I-01A-11D-A23U-08		60511927	2513593	14	1059											
SPTA1	6708	broad.mit.edu	37	chr1	158618337	158618337	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaggtccctttcaaagccctCatgccgtcgctgaagagcct	10	14	2	2			TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr1:158618337C>T	ENST00000368147.4	-	26	3856	c.3676G>A	c.(3676-3678)Gag>Aag	p.E1226K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1226					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCAAAGCCCTCATGCCGTCGC	0.498																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(3676-3678)Gag>Aag		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							117	118	117					1																	158618337		1944	4122	6066	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158618337C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3676G>A	1.37:g.158618337C>T	ENSP00000357129:p.Glu1226Lys					SPTA1_ENST00000368147.3_Missense_Mutation_p.E1226K	p.E1226K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			26	3856	-	all_hematologic(112;0.0378)		1226					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.3676G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656545	0.67586	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.46451	0.87;0.87	5.5	4.59	0.56863	.	0.256191	0.20414	N	0.092808	T	0.31638	0.0803	M	0.66560	2.04	0.54753	D	0.999988	B	0.17667	0.023	B	0.29862	0.108	T	0.28744	-1.0034	10	0.51188	T	0.08	.	13.4011	0.60883	0.0:0.9242:0.0:0.0758	.	1226	P02549	SPTA1_HUMAN	K	1226	ENSP00000357130:E1226K;ENSP00000357129:E1226K	ENSP00000357129:E1226K	E	-	1	0	SPTA1	156884961	1.000000	0.71417	0.841000	0.33234	0.948000	0.59901	5.440000	0.66563	1.564000	0.49628	-0.137000	0.14449	GAG		0.498	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		8	75	0	0	0	1	0	8	75					T	158618337	C	T	158618337	3	4	42	1	0	0	0	0	1	0	0	0	15115	835	29	2	3691	2	SPTA1	1	158618337	Missense_Mutation	SNP	C	TCGA-BJ-A45J-01A-11D-A23U-08		158618337	90632284	1	1060											
CAPN9	10753	broad.mit.edu	37	chr1	230898481	230898481	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccgcttggttttcctccactCtgccgaccacaacgagttct	7	16	2	0			TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr1:230898481C>T	ENST00000271971.2	+	4	598	c.485C>T	c.(484-486)tCt>tTt	p.S162F	CAPN9_ENST00000366666.2_Missense_Mutation_p.S99F|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000354537.1_Missense_Mutation_p.S162F	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	162	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				TTCCTCCACTCTGCCGACCAC	0.587																																						ENST00000354537.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(484-486)tCt>tTt		calpain 9							107	92	97					1																	230898481		2203	4300	6503	SO:0001583	missense	10753				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr1:230898481C>T	AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"EF-hand domain containing"	1486	protein-coding gene	gene with protein product	"novel calpain large subunit-4"	606401	"calpain 9 (nCL-4)"			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.485C>T	1.37:g.230898481C>T	ENSP00000271971:p.Ser162Phe					CAPN9_ENST00000271971.2_Missense_Mutation_p.S162F|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Missense_Mutation_p.S99F	p.S162F	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN			4	567	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	162			Calpain catalytic.		B1APS1|B1AQI0|Q9NS74	Missense_Mutation	SNP	ENST00000271971.2	37	c.485C>T	CCDS1586.1	.	.	.	.	.	.	.	.	.	.	C	31	5.062664	0.93898	.	.	ENSG00000135773	ENST00000271971;ENST00000354537;ENST00000366666	D;D;D	0.91351	-2.83;-2.83;-2.83	5.33	5.33	0.75918	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.97324	0.9125	H	0.97635	4.045	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	D	0.98693	1.0697	10	0.87932	D	0	.	19.0115	0.92875	0.0:1.0:0.0:0.0	.	99;162;162	E7ESS6;O14815-2;O14815	.;.;CAN9_HUMAN	F	162;162;99	ENSP00000271971:S162F;ENSP00000346538:S162F;ENSP00000355626:S99F	ENSP00000271971:S162F	S	+	2	0	CAPN9	228965104	1.000000	0.71417	0.979000	0.43373	0.984000	0.73092	7.415000	0.80131	2.489000	0.83994	0.591000	0.81541	TCT		0.587	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615		4	29	0	0	0	1	0	4	29					T	230898481	C	T	230898481	3	4	42	1	0	0	0	0	1	0	0	0	2632	913	32	2	499	2	CAPN9	1	230898481	Missense_Mutation	SNP	C	TCGA-BJ-A45J-01A-11D-A23U-08	72280144	230898481	18352140	2	1061											
SRBD1	55133	broad.mit.edu	37	chr2	45801777	45801777	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gatactcacaagttccgaatGaagtcaagcgtgtctttgtc	9	9	3	1			TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr2:45801777G>A	ENST00000263736.4	-	8	1220	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	386					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			AGTTCCGAATGAAGTCAAGCG	0.388																																						ENST00000263736.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(1156-1158)ttC>ttT		S1 RNA binding domain 1							129	124	125					2																	45801777		2203	4300	6503	SO:0001819	synonymous_variant	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45801777G>A	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.1158C>T	2.37:g.45801777G>A							p.F386F	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		8	1220	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	386					Q53T56|Q96TA4|Q9NW11	Silent	SNP	ENST00000263736.4	37	c.1158C>T	CCDS1823.1																																																																																				0.388	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		4	60	0	0	0	1	0	4	60					A	45801777	G	A	45801777	2	1	42	1	0	0	0	0	0	0	0	1	15132	1281	45	2		2	SRBD1	2	45801777	Silent	SNP	G	TCGA-BJ-A45J-01A-11D-A23U-08		45801777	197397596	3	1062											
USP34	9736	broad.mit.edu	37	chr2	61438933	61438933	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtagtccagcaggagcgGccatctaagcaacgtaagta	11	9	1	0			TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr2:61438933G>A	ENST00000398571.2	-	69	8890	c.8814C>T	c.(8812-8814)ggC>ggT	p.G2938G	USP34_ENST00000472689.1_5'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2938					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)			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)			AGCAGGAGCGGCCATCTAAGC	0.343																																						ENST00000398571.2																			0				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.(8812-8814)ggC>ggT		ubiquitin specific peptidase 34							91	85	87					2																	61438933		1859	4094	5953	SO:0001819	synonymous_variant	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.chr2:61438933G>A	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.8814C>T	2.37:g.61438933G>A						USP34_ENST00000472689.1_5'UTR	p.G2938G	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		69	8890	-			2938					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	c.8814C>T	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	G	9.592	1.126463	0.20959	.	.	ENSG00000115464	ENST00000411912	.	.	.	6.06	4.23	0.50019	.	.	.	.	.	T	0.48114	0.1482	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45352	-0.9267	4	.	.	.	.	4.1984	0.10453	0.0755:0.1222:0.454:0.3483	.	.	.	.	S	698	.	.	P	-	1	0	USP34	61292437	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	0.237000	0.17985	1.531000	0.49152	0.650000	0.86243	CCG		0.343	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			3	21	0	0	0	1	0	3	21					A	61438933	G	A	61438933	2	1	42	1	0	0	0	0	0	0	0	1	17062	1190	42	2		2	USP34	2	61438933	Silent	SNP	G	TCGA-BJ-A45J-01A-11D-A23U-08	15637156	61438933	181760440	4	1063											
LPP	4026	broad.mit.edu	37	chr3	188426115	188426115	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cttcattccgcccagaggatGagcttgagcacctgaccaaa	9	13	1	4	rs375414038		TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr3:188426115G>C	ENST00000312675.4	+	7	1420	c.1174G>C	c.(1174-1176)Gag>Cag	p.E392Q	LPP_ENST00000471917.1_3'UTR|LPP_ENST00000448637.1_Missense_Mutation_p.E392Q|LPP_ENST00000543006.1_Missense_Mutation_p.E392Q	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	392					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CCCAGAGGATGAGCTTGAGCA	0.512			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"																																	ENST00000312675.4				Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"L, M"	"HMGA2, MLL, C12orf9"		"lipoma, leukemia"	HMGA2/LPP(161)	0				NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(1174-1176)Gag>Cag		LIM domain containing preferred translocation partner in lipoma							144	125	132					3																	188426115		2203	4300	6503	SO:0001583	missense	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188426115G>C	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"LIM domain-containing preferred translocation partner in lipoma"			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1174G>C	3.37:g.188426115G>C	ENSP00000318089:p.Glu392Gln					LPP_ENST00000448637.1_Missense_Mutation_p.E392Q|LPP_ENST00000543006.1_Missense_Mutation_p.E392Q|LPP_ENST00000471917.1_3'UTR	p.E392Q	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	7	1420	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	392					A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	ENST00000312675.4	37	c.1174G>C	CCDS3291.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113277	0.77210	.	.	ENSG00000145012	ENST00000448637;ENST00000312675;ENST00000543006;ENST00000415906	T;T;T;T	0.62498	0.3;0.26;0.26;0.02	5.74	4.87	0.63330	.	0.177576	0.64402	D	0.000014	T	0.72614	0.3482	L	0.61218	1.895	0.52099	D	0.999947	P;D;P	0.89917	0.455;1.0;0.739	B;D;P	0.91635	0.055;0.999;0.667	T	0.69224	-0.5201	10	0.13108	T	0.6	.	12.145	0.54018	0.0787:0.0:0.9213:0.0	.	245;392;392	B7Z8W0;C9JUT4;Q93052	.;.;LPP_HUMAN	Q	392;392;392;229	ENSP00000393602:E392Q;ENSP00000318089:E392Q;ENSP00000438891:E392Q;ENSP00000393008:E229Q	ENSP00000318089:E392Q	E	+	1	0	LPP	189908809	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.535000	0.82014	1.441000	0.47550	0.563000	0.77884	GAG		0.512	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		8	67	0	0	0	1	0	8	67					C	188426115	G	C	188426115	3	2	42	1	0	0	0	0	1	0	0	0	8923	1291	45	4	1192	4	LPP	3	188426115	Missense_Mutation	SNP	G	TCGA-BJ-A45J-01A-11D-A23U-08		188426115	9596315	5	1064											
CMYA5	202333	broad.mit.edu	37	chr5	79031080	79031080	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaccaaaggtggctaagccGgaccttcctgaggaaaaggg	13	10	0	1	rs202038690	byFrequency	TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr5:79031080G>A	ENST00000446378.2	+	2	6523	c.6492G>A	c.(6490-6492)ccG>ccA	p.P2164P		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2164					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGGCTAAGCCGGACCTTCCTG	0.458													G|||	5	0.000998403	0	0.0072	5008	,	,		20752	0		0	False		,,,				2504	0					ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(6490-6492)ccG>ccA		cardiomyopathy associated 5							68	66	67					5																	79031080		1874	4114	5988	SO:0001819	synonymous_variant	202333					perinuclear region of cytoplasm		g.chr5:79031080G>A	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.6492G>A	5.37:g.79031080G>A							p.P2164P	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	6523	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	2164					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	c.6492G>A	CCDS47238.1																																																																																				0.458	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		4	53	0	0	0	1	0	4	53					A	79031080	G	A	79031080	2	1	42	1	0	0	0	0	0	0	0	1	3590	1103	39	1		1	CMYA5	5	79031080	Silent	SNP	G	TCGA-BJ-A45J-01A-11D-A23U-08		79031080	101884180	6	1065											
BAT4	7918	broad.mit.edu	37	chr6	31630196	31630196	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcccaagctgggaaatgtgtCactcggggctggggtgctga	16	9	1	1	rs146741893	byFrequency	TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr6:31630196C>T	ENST00000375906.1	-	4	1602	c.918G>A	c.(916-918)gtG>gtA	p.V306V	C6orf47_ENST00000375911.1_5'Flank|GPANK1_ENST00000375900.4_Silent_p.V306V|Y_RNA_ENST00000364337.1_RNA|C6orf47-AS1_ENST00000422049.1_RNA|GPANK1_ENST00000375896.4_Silent_p.V306V|CSNK2B_ENST00000375885.4_5'Flank|GPANK1_ENST00000375893.2_Silent_p.V306V|GPANK1_ENST00000375895.2_Silent_p.V306V	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	306							nucleic acid binding (GO:0003676)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						GGAAATGTGTCACTCGGGGCT	0.647													C|||	3	0.000599042	0	0.0029	5008	,	,		16875	0		0.001	False		,,,				2504	0					ENST00000375906.1																			0				central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						c.(916-918)gtG>gtA		G patch domain and ankyrin repeats 1		C	,,,,	5,3015		0,5,1505	90	90	90		918,918,918,918,918	2.1	1.0	6	dbSNP_134	90	2,5414		0,2,2706	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GPANK1	NM_001199237.1,NM_001199238.1,NM_001199239.1,NM_001199240.1,NM_033177.3	,,,,	0,7,4211	TT,TC,CC		0.0369,0.1656,0.083	,,,,	306/357,306/357,306/357,306/357,306/357	31630196	7,8429	1510	2708	4218	SO:0001819	synonymous_variant	7918					intracellular	nucleic acid binding	g.chr6:31630196C>T		CCDS4711.1	6p21.3	2013-01-28	2010-11-24	2010-11-24	ENSG00000204438	ENSG00000204438		"Ankyrin repeat domain containing", "G patch domain containing"	13920	protein-coding gene	gene with protein product	"G patch domain containing 10", "ankyrin repeat domain 59"	142610	"HLA-B associated transcript 4"	BAT4		2911734, 2813433	Standard	NM_001199237		Approved	G5, D6S54E, GPATCH10, ANKRD59	uc021yuu.1	O95872	OTTHUMG00000031174	ENST00000375906.1:c.918G>A	6.37:g.31630196C>T						GPANK1_ENST00000375895.2_Silent_p.V306V|GPANK1_ENST00000375893.2_Silent_p.V306V|GPANK1_ENST00000375900.4_Silent_p.V306V|GPANK1_ENST00000375896.4_Silent_p.V306V	p.V306V	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN			4	1602	-			306					A6NG25|B0UXA2|Q5SQ49	Silent	SNP	ENST00000375906.1	37	c.918G>A	CCDS4711.1																																																																																				0.647	GPANK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144445.2	NM_033177		4	53	0	0	0	1	0	4	53					T	31630196	C	T	31630196	2	4	42	1	0	0	0	0	0	0	0	1	1323	813	29	2		2	BAT4	6	31630196	Silent	SNP	C	TCGA-BJ-A45J-01A-11D-A23U-08		31630196	139484871	7	1066											
ULBP1	80329	broad.mit.edu	37	chr6	150290338	150290338	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctctttgactcaaacaacaGaaagtggacagcacttcatc	6	12	3	2			TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr6:150290338G>A	ENST00000229708.3	+	3	510	c.467G>A	c.(466-468)aGa>aAa	p.R156K		NM_025218.2	NP_079494.1	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1	156	MHC class I alpha-2 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		TCAAACAACAGAAAGTGGACA	0.493																																						ENST00000229708.2																			0				large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10						c.(466-468)aGa>aAa		UL16 binding protein 1							85	83	83					6																	150290338		2203	4300	6503	SO:0001583	missense	80329				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|endoplasmic reticulum|MHC class I protein complex	MHC class I receptor activity	g.chr6:150290338G>A	AF304377	CCDS5223.1	6q25	2003-04-29			ENSG00000111981	ENSG00000111981			14893	protein-coding gene	gene with protein product		605697				11239445, 11827464	Standard	XM_005267151		Approved	RAET1I	uc003qnp.3	Q9BZM6	OTTHUMG00000015810	ENST00000229708.3:c.467G>A	6.37:g.150290338G>A	ENSP00000229708:p.Arg156Lys					ULBP1_ENST00000367345.1_Missense_Mutation_p.R156K	p.R156K	NM_025218.2	NP_079494.1	Q9BZM6	N2DL1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)	3	510	+		Ovarian(120;0.0907)	156			MHC class I alpha-2 like.		Q5VY81|Q8IZW3|Q8IZX6	Missense_Mutation	SNP	ENST00000229708.3	37	c.467G>A	CCDS5223.1	.	.	.	.	.	.	.	.	.	.	g	1.908	-0.451503	0.04572	.	.	ENSG00000111981	ENST00000367345;ENST00000229708	T;T	0.58358	0.34;0.34	2.33	-0.473	0.12112	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.18841	0.0452	L	0.38838	1.175	0.09310	N	1	B	0.11235	0.004	B	0.17979	0.02	T	0.33445	-0.9868	9	0.72032	D	0.01	.	4.7846	0.13219	0.5055:0.0:0.4945:0.0	.	156	Q9BZM6	N2DL1_HUMAN	K	156	ENSP00000356314:R156K;ENSP00000229708:R156K	ENSP00000229708:R156K	R	+	2	0	ULBP1	150332031	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.843000	0.04350	-0.138000	0.11434	0.460000	0.39030	AGA		0.493	ULBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042677.2			5	65	0	0	0	1	0	5	65					A	150290338	G	A	150290338	3	1	42	1	0	0	0	0	1	0	0	0	16969	942	33	2	477	2	ULBP1	6	150290338	Missense_Mutation	SNP	G	TCGA-BJ-A45J-01A-11D-A23U-08	118660142	150290338	20824729	8	1067											
MET	4233	broad.mit.edu	37	chr7	116436137	116436137	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cagaagataacgctgatgatGaggtggacacacgaccagcc	12	10	0	5			TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr7:116436137G>C	ENST00000318493.6	+	21	4373	c.4186G>C	c.(4186-4188)Gag>Cag	p.E1396Q	MET_ENST00000539704.1_Missense_Mutation_p.E248Q|MET_ENST00000397752.3_Missense_Mutation_p.E1378Q			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CGCTGATGATGAGGTGGACAC	0.463			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"papillary renal, head-neck squamous cell "		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(4132-4134)Gag>Cag		met proto-oncogene							199	182	188					7																	116436137		2018	4192	6210	SO:0001583	missense	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116436137G>C	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.4186G>C	7.37:g.116436137G>C	ENSP00000317272:p.Glu1396Gln					MET_ENST00000539704.1_Missense_Mutation_p.E248Q|MET_ENST00000318493.6_Missense_Mutation_p.E1396Q	p.E1378Q	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		21	4332	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	1378			Interaction with RANBP9.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.4132G>C	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084626	0.36758	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000539704	T;T;T	0.77489	-0.77;-0.77;-1.1	4.43	3.54	0.40534	.	0.820510	0.11893	N	0.519411	T	0.71031	0.3292	L	0.42245	1.32	0.09310	N	1	B;B	0.27416	0.178;0.112	B;B	0.32342	0.144;0.063	T	0.59989	-0.7350	10	0.38643	T	0.18	.	9.0907	0.36610	0.1723:0.0:0.8277:0.0	.	1396;1378	P08581-2;P08581	.;MET_HUMAN	Q	1378;1396;248	ENSP00000380860:E1378Q;ENSP00000317272:E1396Q;ENSP00000445020:E248Q	ENSP00000317272:E1396Q	E	+	1	0	MET	116223373	0.999000	0.42202	0.031000	0.17742	0.259000	0.26198	3.345000	0.52182	0.804000	0.34136	0.655000	0.94253	GAG		0.463	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			11	133	0	0	0	1	0	11	133					C	116436137	G	C	116436137	3	2	42	1	0	0	0	0	1	0	0	0	9485	1291	45	4	4264	4	MET	7	116436137	Missense_Mutation	SNP	G	TCGA-BJ-A45J-01A-11D-A23U-08		116436137	42702526	9	1068											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		24	41	0	0	0	1	0	24	41					T	140453136	A	T	140453136	3	4	42	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A45J-01A-11D-A23U-08	24016999	140453136	18685527	10	1069											
GLE1	2733	broad.mit.edu	37	chr9	131296128	131296128	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gatctgggagctccaccccaGagtgggggacctcattcttg	13	12	3	1			TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr9:131296128G>C	ENST00000309971.4	+	11	1650	c.1544G>C	c.(1543-1545)aGa>aCa	p.R515T	RP11-216B9.6_ENST00000434999.1_RNA|GLE1_ENST00000372770.4_Missense_Mutation_p.R515T|GLE1_ENST00000539582.1_Missense_Mutation_p.R261T	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	515					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear pore (GO:0005643)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						CTCCACCCCAGAGTGGGGGAC	0.507																																						ENST00000309971.4																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1543-1545)aGa>aCa		GLE1 RNA export mediator							128	119	122					9																	131296128		2203	4300	6503	SO:0001583	missense	2733				poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding	g.chr9:131296128G>C	AF058922	CCDS6904.1, CCDS35154.1	9q34.13	2014-09-17	2013-06-18	2007-10-04	ENSG00000119392	ENSG00000119392			4315	protein-coding gene	gene with protein product		603371	"GLE1 (yeast homolog)-like, RNA export mediator", "GLE1 RNA export mediator-like (yeast)", "GLE1 RNA export mediator (yeast)", "lethal congenital contracture syndrome 1", "GLE1 RNA export mediator homolog (yeast)"	GLE1L, LCCS1		9618489, 18204449	Standard	NM_001499		Approved	hGLE1	uc004bvj.3	Q53GS7	OTTHUMG00000020749	ENST00000309971.4:c.1544G>C	9.37:g.131296128G>C	ENSP00000308622:p.Arg515Thr					RP11-216B9.6_ENST00000434999.1_RNA|GLE1_ENST00000372770.4_Missense_Mutation_p.R515T|GLE1_ENST00000539582.1_Missense_Mutation_p.R261T	p.R515T	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN			11	1650	+			515					O75458|Q53GT9|Q5VVU1|Q8NCP6|Q9UFL6	Missense_Mutation	SNP	ENST00000309971.4	37	c.1544G>C	CCDS35154.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.091183	0.55968	.	.	ENSG00000119392	ENST00000309971;ENST00000372770;ENST00000539582	T;T;T	0.71698	-0.59;-0.59;-0.59	5.66	3.81	0.43845	.	0.364959	0.34110	N	0.004247	T	0.67487	0.2898	L	0.47716	1.5	0.09310	N	1	P;P	0.52463	0.772;0.953	P;P	0.51742	0.511;0.678	T	0.56245	-0.8011	10	0.20046	T	0.44	-9.662	8.1027	0.30868	0.2455:0.0:0.7545:0.0	.	515;515	Q53GS7;Q53GS7-2	GLE1_HUMAN;.	T	515;515;261	ENSP00000308622:R515T;ENSP00000361856:R515T;ENSP00000438670:R261T	ENSP00000308622:R515T	R	+	2	0	GLE1	130335949	0.987000	0.35691	0.986000	0.45419	0.985000	0.73830	2.277000	0.43417	0.736000	0.32559	0.561000	0.74099	AGA		0.507	GLE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054456.1	NM_001003722		7	90	0	0	0	1	0	7	90					C	131296128	G	C	131296128	3	2	42	1	0	0	0	0	1	0	0	0	6435	942	33	4	1586	4	GLE1	9	131296128	Missense_Mutation	SNP	G	TCGA-BJ-A45J-01A-11D-A23U-08		131296128	9917303	11	1070											
C9orf172	389813	broad.mit.edu	37	chr9	139740266	139740266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacccgttgggccgcggccGcagctacgagaacctgctgg	15	14	0	2			TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	85f7f6d9-9498-409c-99fc-d0853b075689	g.chr9:139740266G>A	ENST00000436881.1	+	1	1400	c.1400G>A	c.(1399-1401)cGc>cAc	p.R467H	PHPT1_ENST00000371661.1_5'Flank|PHPT1_ENST00000545326.1_5'Flank	NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	467										endometrium(2)|large_intestine(1)|lung(6)	9						GGCCGCGGCCGCAGCTACGAG	0.746																																						ENST00000436881.1																			0				endometrium(2)|large_intestine(1)|lung(6)	9						c.(1399-1401)cGc>cAc		chromosome 9 open reading frame 172							3	4	4					9																	139740266		1606	3603	5209	SO:0001583	missense	389813							g.chr9:139740266G>A		CCDS48059.1	9q34.3	2012-04-03			ENSG00000232434	ENSG00000232434			37284	protein-coding gene	gene with protein product							Standard	NM_001080482		Approved		uc011meh.2	C9J069		ENST00000436881.1:c.1400G>A	9.37:g.139740266G>A	ENSP00000412388:p.Arg467His						p.R467H	NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN			1	1400	+			467						Missense_Mutation	SNP	ENST00000436881.1	37	c.1400G>A	CCDS48059.1	.	.	.	.	.	.	.	.	.	.	.	20.6	4.015572	0.75161	.	.	ENSG00000232434	ENST00000436881	.	.	.	3.47	3.47	0.39725	.	.	.	.	.	T	0.63745	0.2537	L	0.29908	0.895	0.37660	D	0.92272	D	0.89917	1.0	D	0.69824	0.966	T	0.71682	-0.4519	8	0.87932	D	0	-9.2397	13.6816	0.62489	0.0:0.0:1.0:0.0	.	467	C9J069	CI172_HUMAN	H	467	.	ENSP00000412388:R467H	R	+	2	0	C9orf172	138860087	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.530000	0.45641	1.757000	0.51966	0.472000	0.43445	CGC		0.746	C9orf172-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080482		2	1	0	0	0	1	0	2	1					A	139740266	G	A	139740266	3	1	42	1	0	0	0	0	1	0	0	0	2471	1087	38	1	1402	1	C9orf172	9	139740266	Missense_Mutation	SNP	G	TCGA-BJ-A45J-01A-11D-A23U-08	8444138	139740266	1473165	12	1071											
CHRNA10	57053	broad.mit.edu	37	chr11	3687763	3687763	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgagtgctgttgagaatgtGaccatggtcatagtggccat	14	6	1	3			TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr11:3687763G>A	ENST00000250699.2	-	5	998	c.927C>T	c.(925-927)gtC>gtT	p.V309V	CHRNA10_ENST00000534359.1_3'UTR|Y_RNA_ENST00000364409.1_RNA|Y_RNA_ENST00000363331.1_RNA|CHRNA10_ENST00000493827.2_5'Flank	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	309					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell proliferation (GO:0042127)|synaptic transmission, cholinergic (GO:0007271)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perikaryon (GO:0043204)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	TTGAGAATGTGACCATGGTCA	0.537																																					Melanoma(153;17 1869 2949 7120 36888)	ENST00000250699.2																			0				breast(1)|endometrium(2)|lung(3)|ovary(1)	7						c.(925-927)gtC>gtT		cholinergic receptor, nicotinic, alpha 10 (neuronal)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)						87	86	87					11																	3687763		2201	4298	6499	SO:0001819	synonymous_variant	57053				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	g.chr11:3687763G>A	AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	13800	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 10 (neuronal)"	606372	"cholinergic receptor, nicotinic, alpha polypeptide 10"				Standard	NM_020402		Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844	ENST00000250699.2:c.927C>T	11.37:g.3687763G>A						CHRNA10_ENST00000534359.1_3'UTR	p.V309V	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	5	998	-		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)	309						Silent	SNP	ENST00000250699.2	37	c.927C>T	CCDS7745.1																																																																																				0.537	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032763.2			3	28	0	0	0	1	0	3	28					A	3687763	G	A	3687763	2	1	42	1	0	0	0	0	0	0	0	1	3382	1277	45	2		2	CHRNA10	11	3687763	Silent	SNP	G	TCGA-BJ-A45J-01A-11D-A23U-08		3687763	131318753	13	1072											
OR5M10	390167	broad.mit.edu	37	chr11	56344739	56344739	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtctgagagagcccattaagGaagccatacatgtaaggcac	11	9	1	2			TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr11:56344739G>A	ENST00000526812.2	-	1	524	c.459C>T	c.(457-459)ttC>ttT	p.F153F		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GCCCATTAAGGAAGCCATACA	0.458																																						ENST00000526812.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						c.(457-459)ttC>ttT		olfactory receptor, family 5, subfamily M, member 10							163	156	158					11																	56344739		2020	4198	6218	SO:0001819	synonymous_variant	390167				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56344739G>A	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"GPCR / Class A : Olfactory receptors"	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.459C>T	11.37:g.56344739G>A							p.F153F	NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN			1	524	-			153					B9EIL9	Silent	SNP	ENST00000526812.2	37	c.459C>T	CCDS53630.1																																																																																				0.458	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741		4	70	0	0	0	1	0	4	70					A	56344739	G	A	56344739	2	1	42	1	0	0	0	0	0	0	0	1	11173	1165	41	2		2	OR5M10	11	56344739	Silent	SNP	G	TCGA-BJ-A45J-01A-11D-A23U-08	52656976	56344739	78661777	14	1073											
CYP1A2	1544	broad.mit.edu	37	chr15	75042337	75042337	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attggctccacgcccgtgctGgtgctgagccgcctggacac	13	15	0	1			TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr15:75042337G>A	ENST00000343932.4	+	2	321	c.258G>A	c.(256-258)ctG>ctA	p.L86L		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	86					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"	CGCCCGTGCTGGTGCTGAGCC	0.652																																						ENST00000343932.4																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(256-258)ctG>ctA		cytochrome P450, family 1, subfamily A, polypeptide 2	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)						50	45	47					15																	75042337		2196	4296	6492	SO:0001819	synonymous_variant	1544				alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	g.chr15:75042337G>A	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"Cytochrome P450s"	2596	protein-coding gene	gene with protein product		124060	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.258G>A	15.37:g.75042337G>A							p.L86L	NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN			2	321	+			86					Q16754|Q6NWU5|Q9BXX7|Q9UK49	Silent	SNP	ENST00000343932.4	37	c.258G>A	CCDS32293.1																																																																																				0.652	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		5	55	0	0	0	1	0	5	55					A	75042337	G	A	75042337	2	1	42	1	0	0	0	0	0	0	0	1	4150	1335	47	2		2	CYP1A2	15	75042337	Silent	SNP	G	TCGA-BJ-A45J-01A-11D-A23U-08		75042337	27489055	15	1074											
PDF	64146	broad.mit.edu	37	chr16	69364026	69364028	+	In_Frame_Del	DEL	GGG	GGG	-													ggggttcacgaacacgcgcaGggggaagggctccatttggc					rs150474895	byFrequency	TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr16:69364026_69364028delGGG	ENST00000288022.1	-	1	470_472	c.446_448delCCC	c.(445-450)cccctg>ctg	p.P149del	COG8_ENST00000306875.4_Intron|COG8_ENST00000564419.1_5'Flank|RP11-343C2.12_ENST00000562949.1_Intron	NM_022341.1	NP_071736.1	Q9HBH1	DEFM_HUMAN	peptide deformylase (mitochondrial)	149					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|positive regulation of cell proliferation (GO:0008284)|translation (GO:0006412)	mitochondrion (GO:0005739)	iron ion binding (GO:0005506)|peptide deformylase activity (GO:0042586)			NS(1)|prostate(1)	2						AACACGCGCAGGGGGAAGGGCTC	0.734														61	0.0121805	0.0446	0.0029	5008	,	,		12763	0		0	False		,,,				2504	0					ENST00000288022.1																			0				NS(1)|prostate(1)	2						c.(445-450)ctg>c		peptide deformylase (mitochondrial)			,	145,3845		11,123,1861					,	4.3	1.0		dbSNP_134	10	8,7662		3,2,3830	no	intron,coding	PDF,COG8	NM_032382.4,NM_022341.1	,	14,125,5691	A1A1,A1R,RR		0.1043,3.6341,1.3122	,	,		153,11507				SO:0001651	inframe_deletion	64146				N-terminal protein amino acid modification|peptidyl-methionine modification|positive regulation of cell proliferation|translation	mitochondrion	iron ion binding|peptide deformylase activity	g.chr16:69364026_69364028delGGG	AF239156	CCDS10875.1	16q22.1	2008-02-05				ENSG00000258429	3.5.1.88		30012	protein-coding gene	gene with protein product						11060042, 15489958	Standard	NM_022341		Approved		uc002ewx.1	Q9HBH1		ENST00000288022.1:c.446_448delCCC	16.37:g.69364026_69364028delGGG	ENSP00000288022:p.Pro149del					COG8_ENST00000306875.4_Intron	p.PL149del	NM_022341.1	NP_071736.1	Q9HBH1	DEFM_HUMAN			1	470_472	-			149					Q8WUN6	In_Frame_Del	DEL	ENST00000288022.1	37	c.446_448delCCC	CCDS10875.1																																																																																				0.734	PDF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413022.1	NM_022341		3	4						3	4	---	---	---	---	-	69364028	GGG	-	69364026	7	5	42	1	0	1	0	1	0	0	0	0	11656	991	35	0	291	0	PDF	16	69364026	In_Frame_Del	DEL	GGG	TCGA-BJ-A45J-01A-11D-A23U-08		69364026	20990727	16	1075											
MYH3	4621	broad.mit.edu	37	chr17	10546211	10546211	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gaacgtccactcgatgccttCcttcttgtactcctcctgct	6	16	1	0			TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr17:10546211C>A	ENST00000583535.1	-	15	1600	c.1513G>T	c.(1513-1515)Gaa>Taa	p.E505*	MYH3_ENST00000226209.7_Nonsense_Mutation_p.E505*	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	505	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TCGATGCCTTCCTTCTTGTAC	0.517																																						ENST00000583535.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(1513-1515)Gaa>Taa		myosin, heavy chain 3, skeletal muscle, embryonic							219	188	198					17																	10546211		2203	4300	6503	SO:0001587	stop_gained	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10546211C>A		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.1513G>T	17.37:g.10546211C>A	ENSP00000464317:p.Glu505*					MYH3_ENST00000226209.7_Nonsense_Mutation_p.E505*	p.E505*	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			15	1600	-			505			Myosin head-like.		Q15492	Nonsense_Mutation	SNP	ENST00000583535.1	37	c.1513G>T	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	39	7.287773	0.98189	.	.	ENSG00000109063	ENST00000226209	.	.	.	4.6	4.6	0.57074	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.9673	0.89103	0.0:1.0:0.0:0.0	.	.	.	.	X	505	.	ENSP00000226209:E505X	E	-	1	0	MYH3	10486936	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.609000	0.82925	2.553000	0.86117	0.650000	0.86243	GAA		0.517	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		5	92	1	0	1.23904e-05	1	1.31413e-05	5	92					A	10546211	C	A	10546211	4	1	42	1	0	0	0	0	0	1	0	0	10036	864	30	4	4417	4	MYH3	17	10546211	Nonsense_Mutation	SNP	C	TCGA-BJ-A45J-01A-11D-A23U-08		10546211	70648999	17	1076											
EFTUD2	9343	broad.mit.edu	37	chr17	42941049	42941049	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcacagtcactcatagcctCgccgaggtcggagtccacac	10	15	3	0			TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr17:42941049C>T	ENST00000426333.2	-	15	1684	c.1387G>A	c.(1387-1389)Gag>Aag	p.E463K	EFTUD2_ENST00000402521.3_Missense_Mutation_p.E428K|EFTUD2_ENST00000592576.1_Missense_Mutation_p.E453K|EFTUD2_ENST00000591382.1_Missense_Mutation_p.E463K	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	463					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CTCATAGCCTCGCCGAGGTCG	0.552																																					Ovarian(10;65 485 10258 29980 30707)	ENST00000426333.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(1387-1389)Gag>Aag		elongation factor Tu GTP binding domain containing 2							122	96	105					17																	42941049		2203	4300	6503	SO:0001583	missense	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42941049C>T	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 116 kD"	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.1387G>A	17.37:g.42941049C>T	ENSP00000392094:p.Glu463Lys					EFTUD2_ENST00000591382.1_Missense_Mutation_p.E463K|EFTUD2_ENST00000402521.3_Missense_Mutation_p.E428K|EFTUD2_ENST00000592576.1_Missense_Mutation_p.E453K	p.E463K	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN			15	1684	-		Prostate(33;0.109)	463					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	c.1387G>A	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.975043	0.74360	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.79845	-1.31;-1.31	6.04	6.04	0.98038	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.68302	0.2986	N	0.16743	0.435	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.64193	-0.6465	10	0.07030	T	0.85	-17.5973	20.5792	0.99380	0.0:1.0:0.0:0.0	.	453;463	B4DMC0;Q15029	.;U5S1_HUMAN	K	463;453;428	ENSP00000392094:E463K;ENSP00000385873:E428K	ENSP00000262414:E453K	E	-	1	0	EFTUD2	40296575	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.453000	0.80700	2.873000	0.98535	0.561000	0.74099	GAG		0.552	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		5	57	0	0	0	1	0	5	57					T	42941049	C	T	42941049	3	4	42	1	0	0	0	0	1	0	0	0	4961	893	31	1	1587	1	EFTUD2	17	42941049	Missense_Mutation	SNP	C	TCGA-BJ-A45J-01A-11D-A23U-08	32394838	42941049	38254161	18	1077											
BTBD2	55643	broad.mit.edu	37	chr19	1987243	1987243	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accacgaagatgcgcttgttGactgagaacctgccgtggca	12	11	0	3			TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr19:1987243G>A	ENST00000255608.4	-	7	1207	c.1191C>T	c.(1189-1191)gtC>gtT	p.V397V	AC005306.3_ENST00000588480.1_RNA|AC005306.3_ENST00000587498.1_RNA	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	397						cytoplasmic mRNA processing body (GO:0000932)				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|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)		TGCGCTTGTTGACTGAGAACC	0.617																																						ENST00000255608.4																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12						c.(1189-1191)gtC>gtT		BTB (POZ) domain containing 2							167	144	152					19																	1987243		2203	4300	6503	SO:0001819	synonymous_variant	55643					cytoplasmic mRNA processing body	protein binding	g.chr19:1987243G>A	AF355797	CCDS12078.1	19p13.3	2013-10-02			ENSG00000133243	ENSG00000133243		"BTB/POZ domain containing"	15504	protein-coding gene	gene with protein product		608531				11179693	Standard	XM_005259593		Approved		uc002lup.1	Q9BX70	OTTHUMG00000180017	ENST00000255608.4:c.1191C>T	19.37:g.1987243G>A							p.V397V	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_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)	7	1207	-		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	397					O60418|O75248|Q4VBZ1|Q6IAC5|Q7Z5W0|Q96SX8|Q9NPS1|Q9NX81	Silent	SNP	ENST00000255608.4	37	c.1191C>T	CCDS12078.1																																																																																				0.617	BTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449300.2			4	28	0	0	0	1	0	4	28					A	1987243	G	A	1987243	2	1	42	1	0	0	0	0	0	0	0	1	1543	1277	45	2		2	BTBD2	19	1987243	Silent	SNP	G	TCGA-BJ-A45J-01A-11D-A23U-08		1987243	57141740	19	1078											
ZXDB	158586	broad.mit.edu	37	chrX	57619114	57619114	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cccgggtgtctgatcgccccGcaagctgggttcccgcatgc	13	16	1	1			TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chrX:57619114G>C	ENST00000374888.1	+	1	846	c.633G>C	c.(631-633)ccG>ccC	p.P211P		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	211					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						TGATCGCCCCGCAAGCTGGGT	0.736																																						ENST00000374888.1																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						c.(631-633)ccG>ccC		zinc finger, X-linked, duplicated B							9	11	11					X																	57619114		2174	4231	6405	SO:0001819	synonymous_variant	158586				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chrX:57619114G>C	L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"Zinc fingers, C2H2-type"	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.633G>C	X.37:g.57619114G>C							p.P211P	NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN			1	846	+			211					A8K151|Q9UBB3	Silent	SNP	ENST00000374888.1	37	c.633G>C	CCDS35313.1																																																																																				0.736	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	NM_007157		3	18	0	0	0	1	0	3	18					C	57619114	G	C	57619114	2	2	42	1	0	0	0	0	0	0	0	1	18248	1074	38	4		4	ZXDB	23	57619114	Silent	SNP	G	TCGA-BJ-A45J-01A-11D-A23U-08		57619114	97651446	20	1079											
SCN1A	6323	broad.mit.edu	37	chr2	166866283	166866283	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtctcagagctcttagtgtCctgagagatttgatggctcc	12	9	2	4	rs149579028	byFrequency	TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr2:166866283C>T	ENST00000303395.4	-	20	3947	c.3948G>A	c.(3946-3948)agG>agA	p.R1316R	AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Silent_p.R1305R|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.R1288R|SCN1A_ENST00000423058.2_Silent_p.R1316R			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1316					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)	p.R1305R(1)|p.R1316R(1)		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)	CTCTTAGTGTCCTGAGAGATT	0.368													C|||	3	0.000599042	0.0023	0	5008	,	,		14005	0		0	False		,,,				2504	0					ENST00000423058.2																			2	Substitution - coding silent(2)	p.R1305R(1)|p.R1316R(1)	lung(2)	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.(3946-3948)agG>agA		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	C	,,,	8,4398	14.3+/-33.2	0,8,2195	88	87	88		3948,3864,3948,3915	2.3	1.0	2	dbSNP_134	88	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SCN1A	NM_001165963.1,NM_001165964.1,NM_001202435.1,NM_006920.4	,,,	0,8,6495	TT,TC,CC		0.0,0.1816,0.0615	,,,	1316/2010,1288/1982,1316/2010,1305/1999	166866283	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166866283C>T	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.3948G>A	2.37:g.166866283C>T						SCN1A_ENST00000375405.3_Silent_p.R1305R|SCN1A_ENST00000303395.4_Silent_p.R1316R|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.R1288R	p.R1316R	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			20	3965	-			1316					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	c.3948G>A	CCDS54413.1																																																																																				0.368	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		16	12	0	0	0	1	0	16	12					T	166866283	C	T	166866283	2	4	43	1	0	0	0	0	0	0	0	1	13914	854	30	2		2	SCN1A	2	166866283	Silent	SNP	C	TCGA-BJ-A45K-01A-11D-A23U-08		166866283	76333090	1	1080											
SPON2	10417	broad.mit.edu	37	chr4	1165200	1165200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgcccaggcctcgccgcgctCcgcaaagtcgcgcagcccgt	12	20	0	0			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr4:1165200C>T	ENST00000290902.5	-	3	627	c.295G>A	c.(295-297)Gag>Aag	p.E99K	SPON2_ENST00000431380.1_Missense_Mutation_p.E99K	NM_012445.3	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	99	Spondin. {ECO:0000255|PROSITE- ProRule:PRU00364}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		TCGCCGCGCTCCGCAAAGTCG	0.711																																						ENST00000290902.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9						c.(295-297)Gag>Aag		spondin 2, extracellular matrix protein							25	27	27					4																	1165200		2182	4274	6456	SO:0001583	missense	10417				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding	g.chr4:1165200C>T	AB027466	CCDS3347.1	4p16.3	2008-07-29			ENSG00000159674	ENSG00000159674			11253	protein-coding gene	gene with protein product	"Mindin", "M-spondin"	605918				10512675, 15094111	Standard	NM_012445		Approved	DIL1	uc003gco.4	Q9BUD6	OTTHUMG00000089002	ENST00000290902.5:c.295G>A	4.37:g.1165200C>T	ENSP00000290902:p.Glu99Lys					SPON2_ENST00000431380.1_Missense_Mutation_p.E99K	p.E99K	NM_012445.3	NP_036577.1	Q9BUD6	SPON2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)	3	627	-			99			Spondin.		D3DVN9|Q4W5N4|Q9ULW1	Missense_Mutation	SNP	ENST00000290902.5	37	c.295G>A	CCDS3347.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566622	0.86439	.	.	ENSG00000159674	ENST00000290902;ENST00000431380;ENST00000503765	T;T;T	0.67171	-0.25;-0.25;-0.25	4.5	4.5	0.54988	Spondin, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.85839	0.5790	M	0.92367	3.3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.997;0.989	D	0.90031	0.4135	10	0.87932	D	0	.	16.7743	0.85547	0.0:1.0:0.0:0.0	.	99;99;99	D6RB12;D3DVN9;Q9BUD6	.;.;SPON2_HUMAN	K	99	ENSP00000290902:E99K;ENSP00000394832:E99K;ENSP00000424542:E99K	ENSP00000290902:E99K	E	-	1	0	SPON2	1155200	1.000000	0.71417	0.772000	0.31596	0.083000	0.17756	5.317000	0.65822	2.053000	0.61076	0.511000	0.50034	GAG		0.711	SPON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202080.2			12	42	0	0	0	1	0	12	42					T	1165200	C	T	1165200	3	4	43	1	0	0	0	0	1	0	0	0	15082	864	30	2	716	2	SPON2	4	1165200	Missense_Mutation	SNP	C	TCGA-BJ-A45K-01A-11D-A23U-08		1165200	189989076	2	1081											
CYP21A2	1590	broad.mit.edu	37	chr6	31975110	31975110	+	5'Flank	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccaaggggtggcgcagcCgagcatggaagagggctctg	18	10	1	1	rs571348479	byFrequency	TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr6:31975110C>T	ENST00000594256.1	-	0	0				CYP21A1P_ENST00000342991.6_RNA																							GTGGCGCAGCCGAGCATGGAA	0.632													C|||	505	0.100839	0.143	0.0706	5008	,	,		17146	0.0188		0.0805	False		,,,				2504	0.1708					ENST00000342991.6																			0																																																	SO:0001631	upstream_gene_variant	0						electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr6:31975110C>T																													6.37:g.31975110C>T	Exception_encountered							NR_040090.1		Q5ST44	Q5ST44_HUMAN			0	1233	+									RNA	SNP	ENST00000594256.1	37																																																																																						0.632	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				5	48	0	0	0	1	0	5	48					T	31975110	C	T	31975110	1	4	43	0	1	0	0	0	0	0	0	0	4153	652	23	1		1	CYP21A2	6	31975110	5'Flank	SNP	C	TCGA-BJ-A45K-01A-11D-A23U-08		31975110	139139957	3	1082											
CRH	1392	broad.mit.edu	37	chr8	67089559	67089561	+	In_Frame_Del	DEL	GCG	GCG	-													ctgctggggctgctcggactGcggcggcggctggaagaaat							TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr8:67089559_67089561delGCG	ENST00000276571.3	-	2	598_600	c.152_154delCGC	c.(151-156)ccgcag>cag	p.P51del		NM_000756.2	NP_000747.1	P06850	CRF_HUMAN	corticotropin releasing hormone	51					adrenal gland development (GO:0030325)|associative learning (GO:0008306)|cellular response to cocaine (GO:0071314)|cellular response to dexamethasone stimulus (GO:0071549)|diterpenoid metabolic process (GO:0016101)|feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|ferulate metabolic process (GO:0033494)|glucocorticoid biosynthetic process (GO:0006704)|hormone-mediated apoptotic signaling pathway (GO:0008628)|hypothalamus development (GO:0021854)|inflammatory response (GO:0006954)|ion homeostasis (GO:0050801)|learning or memory (GO:0007611)|locomotory exploration behavior (GO:0035641)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|lung development (GO:0030324)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell death (GO:0060548)|negative regulation of circadian sleep/wake cycle, REM sleep (GO:0042322)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gene expression (GO:0010629)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of luteinizing hormone secretion (GO:0033685)|negative regulation of norepinephrine secretion (GO:0010700)|parturition (GO:0007567)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of corticosterone secretion (GO:2000854)|positive regulation of corticotropin secretion (GO:0051461)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of digestive system process (GO:0060456)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein phosphorylation (GO:0001934)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of serotonin secretion (GO:0014062)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to immobilization stress (GO:0035902)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|varicosity (GO:0043196)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|lung(2)|urinary_tract(1)	5		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		Corticotropin(DB01285)	TGCTCGGACTGCGGCGGCGGCTG	0.734											OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000276571.3																			0				breast(1)|endometrium(1)|lung(2)|urinary_tract(1)	5						c.(151-156)cag>c		corticotropin releasing hormone	Corticotropin(DB01285)			3,13,3098		1,0,1,2,9,1544						-0.8	1.0		dbSNP_107	3	3,36,6773		0,0,3,5,26,3372	no	codingComplex	CRH	NM_000756.2		1,0,4,7,35,4916	A1A1,A1A2,A1R,A2A2,A2R,RR		0.5725,0.5138,0.5541				6,49,9871				SO:0001651	inframe_deletion	1392				female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity	g.chr8:67089559_67089561delGCG		CCDS6188.1	8q13	2013-02-25				ENSG00000147571		"Endogenous ligands"	2355	protein-coding gene	gene with protein product	"corticotropin-releasing factor", "corticoliberin"	122560					Standard	NM_000756		Approved	CRF	uc003xvy.2	P06850		ENST00000276571.3:c.152_154delCGC	8.37:g.67089565_67089567delGCG	ENSP00000276571:p.Pro51del		OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1096		p.PQ51del	NM_000756.2	NP_000747.1	P06850	CRF_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		2	598_600	-		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	51					B3KQS4	In_Frame_Del	DEL	ENST00000276571.3	37	c.152_154delCGC	CCDS6188.1																																																																																				0.734	CRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378926.1	NM_000756		2	4						2	4	---	---	---	---	-	67089561	GCG	-	67089559	7	5	43	1	0	1	0	1	0	0	0	0	3869	1328	46	0	440	0	CRH	8	67089559	In_Frame_Del	DEL	GCG	TCGA-BJ-A45K-01A-11D-A23U-08		67089559	79274463	4	1083											
ANXA11	311	broad.mit.edu	37	chr10	81932595	81932595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggtagccacctgggggcGggggatagccagggtagctc	20	9	0	0	rs147334030	byFrequency	TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr10:81932595G>A	ENST00000438331.1	-	4	505	c.23C>T	c.(22-24)cCg>cTg	p.P8L	ANXA11_ENST00000537102.1_5'UTR|ANXA11_ENST00000372231.3_Missense_Mutation_p.P8L|ANXA11_ENST00000535999.1_Missense_Mutation_p.P8L|ANXA11_ENST00000463657.1_5'UTR|ANXA11_ENST00000422982.3_Missense_Mutation_p.P8L|ANXA11_ENST00000265447.4_Missense_Mutation_p.P8L|ANXA11_ENST00000360615.4_Missense_Mutation_p.P8L	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	8					cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			ACCTGGGGGCGGGGGATAGCC	0.622													g|||	11	0.00219649	0.0015	0.0014	5008	,	,		20054	0		0.007	False		,,,				2504	0.001					ENST00000438331.1																			0				endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17						c.(22-24)cCg>cTg		annexin A11		G	LEU/PRO,LEU/PRO,LEU/PRO	6,4400		0,6,2197	81	85	83		23,23,23	4.8	0.4	10	dbSNP_134	83	67,8533		0,67,4233	yes	missense,missense,missense	ANXA11	NM_001157.2,NM_145868.1,NM_145869.1	98,98,98	0,73,6430	AA,AG,GG		0.7791,0.1362,0.5613	probably-damaging,probably-damaging,probably-damaging	8/506,8/506,8/506	81932595	73,12933	2203	4300	6503	SO:0001583	missense	311				cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding	g.chr10:81932595G>A	L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"Annexins"	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.23C>T	10.37:g.81932595G>A	ENSP00000398610:p.Pro8Leu					ANXA11_ENST00000463657.1_5'UTR|ANXA11_ENST00000360615.4_Missense_Mutation_p.P8L|ANXA11_ENST00000372231.3_Missense_Mutation_p.P8L|ANXA11_ENST00000537102.1_5'UTR|ANXA11_ENST00000535999.1_Missense_Mutation_p.P8L|ANXA11_ENST00000422982.3_Missense_Mutation_p.P8L|ANXA11_ENST00000265447.4_Missense_Mutation_p.P8L	p.P8L	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	Colorectal(32;0.109)		4	505	-	Prostate(51;0.00985)|all_epithelial(25;0.0951)		8					B4DVE7	Missense_Mutation	SNP	ENST00000438331.1	37	c.23C>T	CCDS7364.1	6	0.0027472527472527475	0	0.0	1	0.0027624309392265192	0	0.0	5	0.006596306068601583	.	13.72	2.321338	0.41096	0.001362	0.007791	ENSG00000122359	ENST00000372231;ENST00000422982;ENST00000438331;ENST00000372234;ENST00000360615;ENST00000265447;ENST00000535999;ENST00000445524;ENST00000437799	T;T;T;T;T;T	0.02197	4.4;4.4;4.4;4.4;4.4;4.4	4.79	4.79	0.61399	.	0.221347	0.38436	N	0.001700	T	0.06735	0.0172	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.01114	-1.1447	10	0.62326	D	0.03	.	13.7027	0.62620	0.0:0.0:1.0:0.0	.	8;8	Q5T0G8;P50995	.;ANX11_HUMAN	L	8	ENSP00000361305:P8L;ENSP00000404412:P8L;ENSP00000398610:P8L;ENSP00000353827:P8L;ENSP00000265447:P8L;ENSP00000441748:P8L	ENSP00000265447:P8L	P	-	2	0	ANXA11	81922575	1.000000	0.71417	0.422000	0.26621	0.018000	0.09664	7.144000	0.77357	2.368000	0.80403	0.467000	0.42956	CCG		0.622	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049044.1	NM_145869		5	67	0	0	0	1	0	5	67					A	81932595	G	A	81932595	3	1	43	1	0	0	0	0	1	0	0	0	716	1116	39	1	1550	1	ANXA11	10	81932595	Missense_Mutation	SNP	G	TCGA-BJ-A45K-01A-11D-A23U-08		81932595	53602152	5	1084											
GLYATL2	219970	broad.mit.edu	37	chr11	58604779	58604779	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgctcccagctgattacaTtggagtatgacaggacttcc	9	10	0	2	rs186195231	byFrequency	TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr11:58604779T>C	ENST00000287275.1	-	4	668	c.278A>G	c.(277-279)aAt>aGt	p.N93S	GLYATL2_ENST00000532258.1_Missense_Mutation_p.N93S|GLYATL2_ENST00000533636.1_5'UTR	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	93						endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	GCTGATTACATTGGAGTATGA	0.393													T|||	16	0.00319489	0	0.0014	5008	,	,		20530	0.001		0	False		,,,				2504	0.0143					ENST00000287275.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23						c.(277-279)aAt>aGt		glycine-N-acyltransferase-like 2	Glycine(DB00145)	T	SER/ASN	0,3718		0,0,1859	225	208	213		278	1.9	0.0	11		213	8,8188		0,8,4090	yes	missense	GLYATL2	NM_145016.3	46	0,8,5949	CC,CT,TT		0.0976,0.0,0.0671	benign	93/295	58604779	8,11906	1859	4098	5957	SO:0001583	missense	219970					mitochondrion	glycine N-acyltransferase activity	g.chr11:58604779T>C	AF426250	CCDS41649.1	11q12.1	2008-02-05				ENSG00000156689			24178	protein-coding gene	gene with protein product		614762				12477932	Standard	NM_145016		Approved	BXMAS2-10, MGC24009	uc001nnd.4	Q8WU03		ENST00000287275.1:c.278A>G	11.37:g.58604779T>C	ENSP00000287275:p.Asn93Ser					GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Missense_Mutation_p.N93S	p.N93S	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN			4	668	-		Breast(21;0.0044)|all_epithelial(135;0.0216)	93					A5LGC7|Q86WC3|Q96AT2	Missense_Mutation	SNP	ENST00000287275.1	37	c.278A>G	CCDS41649.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	T	7.585	0.669469	0.14776	0.0	9.76E-4	ENSG00000156689	ENST00000287275;ENST00000532258	T;T	0.14266	2.52;2.52	4.24	1.89	0.25635	Acyl-CoA N-acyltransferase (1);Glycine N-acyltransferase, N-terminal (1);	1.033050	0.07713	U	0.942420	T	0.06554	0.0168	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.36237	-0.9756	10	0.46703	T	0.11	.	5.3587	0.16075	0.0:0.2367:0.0:0.7633	.	93	Q8WU03	GLYL2_HUMAN	S	93	ENSP00000287275:N93S;ENSP00000434277:N93S	ENSP00000287275:N93S	N	-	2	0	GLYATL2	58361355	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.371000	0.20450	0.518000	0.28383	0.524000	0.50904	AAT		0.393	GLYATL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394599.1	NM_145016		25	32	0	0	0	1	0	25	32					C	58604779	T	C	58604779	3	2	43	1	0	0	0	0	1	0	0	0	6481	1493	52	3	618	3	GLYATL2	11	58604779	Missense_Mutation	SNP	T	TCGA-BJ-A45K-01A-11D-A23U-08		58604779	76401737	6	1085											
CTSH	1512	broad.mit.edu	37	chr15	79220056	79220057	+	Splice_Site	INS	-	-	T													agggggatcggcactcacgaINSttgtgatgttggctacatcc							TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr15:79220056_79220057insT	ENST00000220166.5	-	9	806_807	c.697_698insA	c.(697-699)atc>aAtc	p.I233fs	CTSH_ENST00000534533.1_5'UTR	NM_004390.3	NP_004381.2	P09668	CATH_HUMAN	cathepsin H	233					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|bradykinin catabolic process (GO:0010815)|cellular response to thyroid hormone stimulus (GO:0097067)|dichotomous subdivision of terminal units involved in lung branching (GO:0060448)|ERK1 and ERK2 cascade (GO:0070371)|immune response-regulating signaling pathway (GO:0002764)|membrane protein proteolysis (GO:0033619)|metanephros development (GO:0001656)|negative regulation of apoptotic process (GO:0043066)|neuropeptide catabolic process (GO:0010813)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidase activity (GO:0010952)|protein destabilization (GO:0031648)|proteolysis (GO:0006508)|response to retinoic acid (GO:0032526)|spermatogenesis (GO:0007283)|surfactant homeostasis (GO:0043129)|T cell mediated cytotoxicity (GO:0001913)|zymogen activation (GO:0031638)	acrosomal vesicle (GO:0001669)|alveolar lamellar body (GO:0097208)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|outer dense fiber (GO:0001520)	aminopeptidase activity (GO:0004177)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)|HLA-A specific activating MHC class I receptor activity (GO:0030108)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|thyroid hormone binding (GO:0070324)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						GGCACTCACGATTGTGATGTTG	0.535																																						ENST00000220166.5																			0				central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						c.e9+1		cathepsin H																																				SO:0001630	splice_region_variant	1512				protein destabilization|proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr15:79220056_79220057insT	X07549	CCDS10308.1	15q25.1	2014-01-28			ENSG00000103811	ENSG00000103811	3.4.22.16	"Cathepsins"	2535	protein-coding gene	gene with protein product		116820		CPSB		2849458	Standard	NM_004390		Approved	ACC-4, ACC-5	uc021srk.1	P09668	OTTHUMG00000144171	ENST00000220166.5:c.699+1->A	15.37:g.79220058_79220058dupT						CTSH_ENST00000534533.1_5'UTR	p.L233_splice	NM_004390.3	NP_004381.2	P09668	CATH_HUMAN			9	806_807	-			233					B2RBK0|Q96NY6|Q9BUM7	Splice_Site	INS	ENST00000220166.5	37	c.699_splice	CCDS10308.1																																																																																				0.535	CTSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291370.1	NM_004390	Frame_Shift_Ins	18	33						18	33	---	---	---	---	T	79220057	-	T	79220056	8	5	43	1	0	1	1	0	0	0	1	0	4036	347	12	0	325	0	CTSH	15	79220056	Splice_Site	INS	-	TCGA-BJ-A45K-01A-11D-A23U-08		79220056	23311336	7	1086											
SULT1A1	6817	broad.mit.edu	37	chr16	28631452	28631452	+	5'UTR	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttccctggagaatgctcaTacctatttgcaaaaacacca	5	12	1	1	rs546816346		TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr16:28631452T>C	ENST00000395609.1	-	0	425				SULT1A1_ENST00000350842.4_Missense_Mutation_p.M24V			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|estrogen metabolic process (GO:0008210)|flavonoid metabolic process (GO:0009812)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid sulfotransferase activity (GO:0050294)|sulfotransferase activity (GO:0008146)			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16					Acetaminophen(DB00316)|Tamoxifen(DB00675)	AGAATGCTCATACCTATTTGC	0.333													.|||	1	0.000199681	0	0.0014	5008	,	,		16290	0		0	False		,,,				2504	0					ENST00000350842.4																			0				endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						c.(70-72)Atg>Gtg		sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1							102	99	100					16																	28631452		2197	4300	6497	SO:0001623	5_prime_UTR_variant	6817				3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	g.chr16:28631452T>C	U52852	CCDS10637.1, CCDS32420.1	16p12.1	2008-02-05			ENSG00000196502	ENSG00000196502	2.8.2.1	"Sulfotransferases, cytosolic"	11453	protein-coding gene	gene with protein product		171150		STP, STP1		8288252, 8912648	Standard	NM_177534		Approved	P-PST	uc002dqj.3	P50225	OTTHUMG00000131765	ENST00000395609.1:c.-334A>G	16.37:g.28631452T>C						SULT1A1_ENST00000395609.1_5'UTR	p.M24V	NM_177536.3	NP_803880.1	P50225	ST1A1_HUMAN			2	458	-			0					Q2NL71|Q86U58|Q92818|Q9BVU6|Q9UGG7	Missense_Mutation	SNP	ENST00000395609.1	37	c.70A>G	CCDS32420.1	.	.	.	.	.	.	.	.	.	.	t	5.489	0.275224	0.10403	.	.	ENSG00000196502	ENST00000350842	T	0.02216	4.39	1.01	1.01	0.19927	.	.	.	.	.	T	0.02047	0.0064	.	.	.	0.80722	D	1	B	0.20052	0.041	B	0.14578	0.011	T	0.49409	-0.8943	8	0.87932	D	0	.	4.2403	0.10645	0.0:0.0:0.0:1.0	.	24	P50225-2	.	V	24	ENSP00000329399:M24V	ENSP00000329399:M24V	M	-	1	0	SULT1A1	28538953	0.991000	0.36638	0.972000	0.41901	0.424000	0.31475	0.207000	0.17395	0.427000	0.26145	0.076000	0.15429	ATG		0.333	SULT1A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001055		11	9	0	0	0	1	0	11	9					C	28631452	T	C	28631452	1	2	43	0	1	0	0	0	0	0	0	0	15371	1406	49	3		3	SULT1A1	16	28631452	5'UTR	SNP	T	TCGA-BJ-A45K-01A-11D-A23U-08		28631452	61723301	8	1087											
KIAA1267	284058	broad.mit.edu	37	chr17	44159834	44159834	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcagtcccatgatctgtcttCacctcagaactaagtggaag	8	11	5	2			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr17:44159834C>T	ENST00000262419.6	-	4	1976	c.1506G>A	c.(1504-1506)gtG>gtA	p.V502V	KANSL1_ENST00000432791.1_Silent_p.V502V|KANSL1_ENST00000572904.1_Silent_p.V502V|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Silent_p.V502V|KANSL1_ENST00000575318.1_Silent_p.V502V	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	502					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GATCTGTCTTCACCTCAGAAC	0.428																																						ENST00000262419.6																			0											c.(1504-1506)gtG>gtA		KAT8 regulatory NSL complex subunit 1							81	80	80					17																	44159834		2203	4300	6503	SO:0001819	synonymous_variant	284058					MLL1 complex	protein binding	g.chr17:44159834C>T	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"centromere protein 36"	612452	"KIAA1267"	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.1506G>A	17.37:g.44159834C>T						KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000432791.1_Silent_p.V502V|KANSL1_ENST00000575318.1_Silent_p.V502V|KANSL1_ENST00000574590.1_Silent_p.V502V|KANSL1_ENST00000572904.1_Silent_p.V502V	p.V502V	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN			4	1976	-			502					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Silent	SNP	ENST00000262419.6	37	c.1506G>A	CCDS11503.1																																																																																				0.428	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		4	27	0	0	0	1	0	4	27					T	44159834	C	T	44159834	2	4	43	1	0	0	0	0	0	0	0	1	8219	813	29	2		2	KIAA1267	17	44159834	Silent	SNP	C	TCGA-BJ-A45K-01A-11D-A23U-08		44159834	37035376	9	1088											
SDK2	54549	broad.mit.edu	37	chr17	71380017	71380017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccaagtgtcactcacagGtaagctcagcccatgtggcc	9	15	3	0			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr17:71380017G>A	ENST00000392650.3	-	33	4703	c.4703C>T	c.(4702-4704)aCc>aTc	p.T1568I	SDK2_ENST00000388726.3_Missense_Mutation_p.T1568I	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1568	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TCACTCACAGGTAAGCTCAGC	0.607																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(4702-4704)aCc>aTc		sidekick cell adhesion molecule 2							93	79	84					17																	71380017		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71380017G>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.4703C>T	17.37:g.71380017G>A	ENSP00000376421:p.Thr1568Ile					SDK2_ENST00000388726.3_Missense_Mutation_p.T1568I	p.T1568I	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			33	4703	-			1568			Fibronectin type-III 10.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.4703C>T	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657890	0.29425	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.61510	0.1;0.22;0.22	5.47	4.5	0.54988	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.104467	0.64402	D	0.000004	T	0.58481	0.2125	M	0.74647	2.275	0.24991	N	0.991536	B;B;B	0.33212	0.402;0.006;0.021	B;B;B	0.33620	0.167;0.021;0.059	T	0.55698	-0.8100	10	0.45353	T	0.12	.	13.6786	0.62469	0.0752:0.0:0.9248:0.0	.	1568;1568;1568	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	I	1192;1568;1568;744;1568	ENSP00000376421:T1568I;ENSP00000373378:T1568I;ENSP00000407098:T744I	ENSP00000324967:T1568I	T	-	2	0	SDK2	68891612	1.000000	0.71417	0.997000	0.53966	0.063000	0.16089	6.424000	0.73366	1.303000	0.44873	0.561000	0.74099	ACC		0.607	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		13	25	0	0	0	1	0	13	25					A	71380017	G	A	71380017	3	1	43	1	0	0	0	0	1	0	0	0	13969	1261	44	2	1867	2	SDK2	17	71380017	Missense_Mutation	SNP	G	TCGA-BJ-A45K-01A-11D-A23U-08	27220183	71380017	9815193	10	1089											
RYR1	6261	broad.mit.edu	37	chr19	38959963	38959963	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggcttcctgcccgtctgcaGcttgggacctggccaggtgg	15	13	1	0			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr19:38959963G>T	ENST00000359596.3	+	27	3575	c.3575G>T	c.(3574-3576)aGc>aTc	p.S1192I	RYR1_ENST00000355481.4_Missense_Mutation_p.S1192I|RYR1_ENST00000360985.3_Missense_Mutation_p.S1192I			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1192	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CCCGTCTGCAGCTTGGGACCT	0.647																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(3574-3576)aGc>aTc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						71	70	71					19																	38959963		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38959963G>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3575G>T	19.37:g.38959963G>T	ENSP00000352608:p.Ser1192Ile					RYR1_ENST00000360985.3_Missense_Mutation_p.S1192I|RYR1_ENST00000359596.3_Missense_Mutation_p.S1192I	p.S1192I	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		27	3706	+	all_cancers(60;7.91e-06)		1192			6 X approximate repeats.|B30.2/SPRY 2.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.3575G>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	g	9.502	1.103431	0.20632	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.70986	-0.53;-0.53;-0.53	3.63	3.63	0.41609	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.236375	0.28853	U	0.013934	D	0.87565	0.6209	H	0.95539	3.685	0.35819	D	0.82446	D;D	0.89917	0.993;1.0	P;D	0.83275	0.899;0.996	D	0.92881	0.6323	10	0.87932	D	0	.	12.332	0.55046	0.0:0.1718:0.8282:0.0	.	1192;1192	P21817-2;P21817	.;RYR1_HUMAN	I	1192	ENSP00000352608:S1192I;ENSP00000347667:S1192I;ENSP00000354254:S1192I	ENSP00000347667:S1192I	S	+	2	0	RYR1	43651803	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.220000	0.51207	1.900000	0.55004	0.434000	0.28630	AGC		0.647	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			22	34	1	0	2.37509e-13	1	2.49385e-13	22	34					T	38959963	G	T	38959963	3	4	43	1	0	0	0	0	1	0	0	0	13768	971	34	4	3681	4	RYR1	19	38959963	Missense_Mutation	SNP	G	TCGA-BJ-A45K-01A-11D-A23U-08		38959963	20169020	11	1090											
FAM116B	414918	broad.mit.edu	37	chr22	50755725	50755725	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtggccaagcagcgcaccttCtggaagtagcccctcttcac	10	15	3	0			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr22:50755725C>T	ENST00000413817.3	-	5	521	c.450G>A	c.(448-450)caG>caA	p.Q150Q	XX-C283C717.1_ENST00000453835.1_RNA	NM_001001794.3	NP_001001794.3	Q8NEG7	DEN6B_HUMAN	DENN/MADD domain containing 6B	150					positive regulation of Rab GTPase activity (GO:0032851)	endosome (GO:0005768)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										AGCGCACCTTCTGGAAGTAGC	0.637																																						ENST00000413817.2																			0											c.(448-450)caG>caA		DENN/MADD domain containing 6B							48	55	53					22																	50755725		2080	4223	6303	SO:0001819	synonymous_variant	414918							g.chr22:50755725C>T	AK054743	CCDS46732.1	22q13.33	2012-10-03	2012-10-03	2012-10-03	ENSG00000205593	ENSG00000205593		"DENN/MADD domain containing"	32690	protein-coding gene	gene with protein product			"family with sequence similarity 116, member B"	FAM116B		21330364	Standard	NM_001001794		Approved	MGC33692, AFI1B	uc011arv.1	Q8NEG7	OTTHUMG00000150210	ENST00000413817.3:c.450G>A	22.37:g.50755725C>T							p.Q150Q	NM_001001794.3	NP_001001794.3					5	521	-								A6X8I5	Silent	SNP	ENST00000413817.3	37	c.450G>A	CCDS46732.1	.	.	.	.	.	.	.	.	.	.	C	4.307	0.056165	0.08291	.	.	ENSG00000205593	ENST00000433760	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	T	0.72045	0.3412	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71307	-0.4632	4	.	.	.	-31.3506	16.7848	0.85571	0.0:1.0:0.0:0.0	.	.	.	.	K	122	.	.	R	-	2	0	FAM116B	49098297	1.000000	0.71417	1.000000	0.80357	0.330000	0.28571	3.448000	0.52943	2.504000	0.84457	0.305000	0.20034	AGA		0.637	DENND6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316845.3	NM_001001794		14	18	0	0	0	1	0	14	18					T	50755725	C	T	50755725	2	4	43	1	0	0	0	0	0	0	0	1	5408	912	32	2		2	FAM116B	22	50755725	Silent	SNP	C	TCGA-BJ-A45K-01A-11D-A23U-08		50755725	548841	12	1091											
PDK3	5165	broad.mit.edu	37	chrX	24517018	24517019	+	Splice_Site	INS	-	-	T													atccacaggtcttggataagINStaagtatggtaccacttagc							TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chrX:24517018_24517019insT	ENST00000379162.4	+	3	555		c.e3+1		PDK3_ENST00000441463.2_Splice_Site|PDK3_ENST00000493226.1_3'UTR	NM_005391.4	NP_005382.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3						cell death (GO:0008219)|cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|peptidyl-serine phosphorylation (GO:0018105)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|regulation of reactive oxygen species metabolic process (GO:2000377)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TCTTGGATAAGTAAGTATGGTA	0.317																																						ENST00000441463.2																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.e3+1		pyruvate dehydrogenase kinase, isozyme 3																																				SO:0001630	splice_region_variant	5165				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chrX:24517018_24517019insT	L42452	CCDS14212.1, CCDS48088.1	Xp22.12	2008-02-05	2005-11-16		ENSG00000067992	ENSG00000067992			8811	protein-coding gene	gene with protein product		300906	"pyruvate dehydrogenase kinase, isoenzyme 3"			7499431	Standard	NM_001142386		Approved		uc004dbh.3	Q15120	OTTHUMG00000021269	ENST00000379162.4:c.320+1->T	X.37:g.24517019_24517019dupT						PDK3_ENST00000493226.1_3'UTR|PDK3_ENST00000379162.4_Splice_Site		NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN			3	320	+								B4DXG6	Splice_Site	INS	ENST00000379162.4	37		CCDS14212.1																																																																																				0.317	PDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056097.1	NM_005391	Intron	3	6						3	6	---	---	---	---	T	24517019	-	T	24517018	8	5	43	1	0	1	1	0	0	0	1	0	11677	1043	36	0	331	0	PDK3	23	24517018	Splice_Site	INS	-	TCGA-BJ-A45K-01A-11D-A23U-08		24517018	130753542	13	1092											
GPR112	139378	broad.mit.edu	37	chrX	135428968	135428968	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agactgaggttaccatgtctGagccttctacactggccagg	11	11	2	3	rs149243520	byFrequency	TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chrX:135428968G>A	ENST00000394143.1	+	6	3394	c.3103G>A	c.(3103-3105)Gag>Aag	p.E1035K	GPR112_ENST00000287534.4_Missense_Mutation_p.E972K|GPR112_ENST00000394141.1_Missense_Mutation_p.E830K|GPR112_ENST00000412101.1_Missense_Mutation_p.E830K|GPR112_ENST00000370652.1_Missense_Mutation_p.E1035K	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1035					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TACCATGTCTGAGCCTTCTAC	0.478													G|||	7	0.0018543	0	0.0043	3775	,	,		16626	0		0.002	False		,,,				2504	0.002					ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(3103-3105)Gag>Aag		G protein-coupled receptor 112		G	LYS/GLU	5,3830		0,4,1,1628,570	230	196	208		3103	0.1	0.0	X	dbSNP_134	208	40,6688		0,34,6,2394,1866	yes	missense	GPR112	NM_153834.3	56	0,38,7,4022,2436	AA,AG,A,GG,G		0.5945,0.1304,0.426	benign	1035/3081	135428968	45,10518	2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135428968G>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.3103G>A	X.37:g.135428968G>A	ENSP00000377699:p.Glu1035Lys					GPR112_ENST00000394141.1_Missense_Mutation_p.E830K|GPR112_ENST00000370652.1_Missense_Mutation_p.E1035K|GPR112_ENST00000287534.4_Missense_Mutation_p.E972K|GPR112_ENST00000412101.1_Missense_Mutation_p.E830K	p.E1035K	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	3394	+	Acute lymphoblastic leukemia(192;0.000127)		1035					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.3103G>A	CCDS35409.1	2	0.0012055455093429777	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	G	8.224	0.803203	0.16397	0.001304	0.005945	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.29142	1.61;1.61;1.58;1.72;1.58	2.13	0.135	0.14775	.	.	.	.	.	T	0.09774	0.0240	N	0.08118	0	0.09310	N	1	B;B;B	0.18968	0.032;0.016;0.028	B;B;B	0.22880	0.042;0.013;0.016	T	0.23868	-1.0176	9	0.56958	D	0.05	.	2.9572	0.05881	0.2012:0.3073:0.4915:0.0	.	972;830;1035	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	K	1035;1035;830;972;830	ENSP00000377699:E1035K;ENSP00000359686:E1035K;ENSP00000416526:E830K;ENSP00000287534:E972K;ENSP00000377697:E830K	ENSP00000287534:E972K	E	+	1	0	GPR112	135256634	0.002000	0.14202	0.005000	0.12908	0.075000	0.17131	-0.027000	0.12371	-0.055000	0.13244	0.284000	0.19432	GAG		0.478	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			6	68	0	0	0	1	0	6	68					A	135428968	G	A	135428968	3	1	43	1	0	0	0	0	1	0	0	0	6629	1291	45	2	3113	2	GPR112	23	135428968	Missense_Mutation	SNP	G	TCGA-BJ-A45K-01A-11D-A23U-08	110911950	135428968	19841592	14	1093											
DDX3Y	8653	broad.mit.edu	37	chrY	15025700	15025700	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgctatactcgtcctactcCagtgcaaaaacatgccattc	5	14	0	0			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chrY:15025700C>A	ENST00000336079.3	+	7	714	c.608C>A	c.(607-609)cCa>cAa	p.P203Q	DDX3Y_ENST00000463199.1_3'UTR|DDX3Y_ENST00000360160.4_Missense_Mutation_p.P203Q	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked	203						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						CGTCCTACTCCAGTGCAAAAA	0.368																																						ENST00000336079.3																			0				kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(607-609)cCa>cAa		DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked																																				SO:0001583	missense	8653					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding	g.chrY:15025700C>A	AF000984	CCDS14782.1	Yq11	2013-07-16	2013-07-16	2003-06-20	ENSG00000067048	ENSG00000067048		"DEAD-boxes"	2699	protein-coding gene	gene with protein product		400010	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide, Y chromosome", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked"	DBY		9381176	Standard	NM_004660		Approved		uc004fsv.2	O15523	OTTHUMG00000036324	ENST00000336079.3:c.608C>A	Y.37:g.15025700C>A	ENSP00000336725:p.Pro203Gln					DDX3Y_ENST00000360160.4_Missense_Mutation_p.P203Q|DDX3Y_ENST00000463199.1_3'UTR	p.P203Q	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN			7	714	+			203					B4DK29|B4DXX7|Q8IYV7	Missense_Mutation	SNP	ENST00000336079.3	37	c.608C>A	CCDS14782.1																																																																																				0.368	DDX3Y-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088407.1	NM_004660		3	19	1	0	0.115264	1	0.115264	3	19					A	15025700	C	A	15025700	3	1	43	1	0	0	0	0	1	0	0	0	4359	594	21	4	634	4	DDX3Y	24	15025700	Missense_Mutation	SNP	C	TCGA-BJ-A45K-01A-11D-A23U-08		15025700	44347866	15	1094											
KIAA0495	57212	broad.mit.edu	37	chr1	3662614	3662614	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagggagcagagacgtgtGgcccacagcgggaggaggta	19	8	0	1			TCGA-BJ-A4O8-01A-11D-A257-08	TCGA-BJ-A4O8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6163b00-1858-4448-a2ae-449c8c5f4d59	de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5	g.chr1:3662614G>A	ENST00000452079.1	-	0	1272				TP73-AS1_ENST00000544565.1_RNA|TP73-AS1_ENST00000608600.1_RNA|TP73-AS1_ENST00000423764.1_RNA|TP73-AS1_ENST00000418088.1_RNA	NR_033711.1		Q9UF72	T73AS_HUMAN	TP73 antisense RNA 1							extracellular region (GO:0005576)											AGAGACGTGTGGCCCACAGCG	0.652																																						ENST00000452079.1																			0																				109	122	117					1																	3662614		2197	4285	6482			0							g.chr1:3662614G>A			1p36.32	2014-01-20	2014-01-20	2014-01-20	ENSG00000227372	ENSG00000227372		"Long non-coding RNAs"	29052	non-coding RNA	RNA, long non-coding	"p53-dependent apoptosis modulator"		"KIAA0495"	KIAA0495		9455484, 20477830, 23726844	Standard	NR_033708		Approved	PDAM	uc009vlm.3	Q9UF72	OTTHUMG00000003414		1.37:g.3662614G>A						TP73-AS1_ENST00000418088.1_RNA|TP73-AS1_ENST00000544565.1_RNA|TP73-AS1_ENST00000423764.1_RNA		NR_033711.1						0	1272	-									RNA	SNP	ENST00000452079.1	37																																																																																						0.652	TP73-AS1-003	KNOWN	basic	antisense	antisense	OTTHUMT00000009558.1	NR_033708		9	97	0	0	0	1	0	9	97					A	3662614	G	A	3662614	1	1	44	0	1	0	0	0	0	0	0	0	8180	1348	47	2		2	KIAA0495	1	3662614	RNA	SNP	G	TCGA-BJ-A4O8-01A-11D-A257-08		3662614	245588007	1	1095											
KIF1A	547	broad.mit.edu	37	chr2	241710459	241710459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggaggctggacacggaggCcgcgcggctggacagggctg	21	10	0	0			TCGA-BJ-A4O8-01A-11D-A257-08	TCGA-BJ-A4O8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6163b00-1858-4448-a2ae-449c8c5f4d59	de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5	g.chr2:241710459C>T	ENST00000320389.7	-	14	1401	c.1243G>A	c.(1243-1245)Gcc>Acc	p.A415T	KIF1A_ENST00000498729.2_Missense_Mutation_p.A424T	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	415					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GACACGGAGGCCGCGCGGCTG	0.647																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(1270-1272)Gcc>Acc		kinesin family member 1A							45	58	54					2																	241710459		2110	4256	6366	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241710459C>T	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.1243G>A	2.37:g.241710459C>T	ENSP00000322791:p.Ala415Thr					KIF1A_ENST00000320389.7_Missense_Mutation_p.A415T	p.A424T	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	15	1516	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	415					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.1270G>A	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	8.821	0.937476	0.18206	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.72942	-0.58;-0.61;-0.7	4.11	4.11	0.48088	.	0.126644	0.52532	U	0.000077	T	0.65417	0.2689	M	0.65975	2.015	0.52501	D	0.999957	B;P;B	0.43788	0.002;0.817;0.418	B;B;B	0.38562	0.008;0.276;0.202	T	0.66452	-0.5920	10	0.08837	T	0.75	.	16.3652	0.83317	0.0:1.0:0.0:0.0	.	424;424;415	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	T	415;424;424;424	ENSP00000322791:A415T;ENSP00000438388:A424T;ENSP00000384231:A424T	ENSP00000322791:A415T	A	-	1	0	KIF1A	241359132	1.000000	0.71417	0.828000	0.32881	0.063000	0.16089	7.589000	0.82641	1.848000	0.53677	0.555000	0.69702	GCC		0.647	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		6	66	0	0	0	1	0	6	66					T	241710459	C	T	241710459	3	4	44	1	0	0	0	0	1	0	0	0	8283	739	26	2	3965	2	KIF1A	2	241710459	Missense_Mutation	SNP	C	TCGA-BJ-A4O8-01A-11D-A257-08		241710459	1488914	2	1096											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A4O8-01A-11D-A257-08	TCGA-BJ-A4O8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6163b00-1858-4448-a2ae-449c8c5f4d59	de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		21	38	0	0	0	1	0	21	38					T	140453136	A	T	140453136	3	4	44	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A4O8-01A-11D-A257-08		140453136	18685527	3	1097											
RPL36AL	6166	broad.mit.edu	37	chr14	50085726	50085726	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctccttccctgggcatacaAagaatccttgcccttcttat	5	15	1	1			TCGA-BJ-A4O8-01A-11D-A257-08	TCGA-BJ-A4O8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6163b00-1858-4448-a2ae-449c8c5f4d59	de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5	g.chr14:50085726A>C	ENST00000298289.6	-	2	256	c.97T>G	c.(97-99)Ttg>Gtg	p.L33V	MGAT2_ENST00000305386.2_5'Flank|RP11-649E7.5_ENST00000555043.1_RNA	NM_001001.4	NP_000992.1	Q969Q0	RL36L_HUMAN	ribosomal protein L36a-like	33					translation (GO:0006412)	ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)					all_epithelial(31;0.0021)|Breast(41;0.0124)					TGGGCATACAAAGAATCCTTG	0.473																																						ENST00000298289.6																			0											c.(97-99)Ttg>Gtg		ribosomal protein L36a-like							112	105	108					14																	50085726		2203	4300	6503	SO:0001583	missense	6166				translation	ribosome	structural constituent of ribosome	g.chr14:50085726A>C	BC000741	CCDS9689.1	14q21	2008-08-29	2002-01-15	2002-01-18	ENSG00000165502	ENSG00000165502		"L ribosomal proteins"	10346	protein-coding gene	gene with protein product		180469	"ribosomal protein L36a"	RPL36A		1577483	Standard	NM_001001		Approved		uc001wwq.2	Q969Q0	OTTHUMG00000152330	ENST00000298289.6:c.97T>G	14.37:g.50085726A>C	ENSP00000346012:p.Leu33Val						p.L33V	NM_001001.4	NP_000992.1	Q969Q0	RL36L_HUMAN			2	256	-	all_epithelial(31;0.0021)|Breast(41;0.0124)		33					Q3B7A5	Missense_Mutation	SNP	ENST00000298289.6	37	c.97T>G	CCDS9689.1	.	.	.	.	.	.	.	.	.	.	A	12.81	2.048671	0.36181	.	.	ENSG00000165502	ENST00000298289	T	0.46451	0.87	4.16	0.956	0.19608	Ribosomal protein, zinc-binding domain (1);	0.000000	0.56097	U	0.000024	T	0.28101	0.0693	.	.	.	0.24266	N	0.995266	B	0.02656	0.0	B	0.10450	0.005	T	0.17531	-1.0366	9	0.40728	T	0.16	-33.4981	8.2999	0.32008	0.2947:0.0:0.7053:0.0	.	33	Q969Q0	RL36L_HUMAN	V	33	ENSP00000346012:L33V	ENSP00000346012:L33V	L	-	1	2	RPL36AL	49155476	1.000000	0.71417	0.978000	0.43139	0.842000	0.47809	5.008000	0.63991	0.217000	0.20800	-0.379000	0.06801	TTG		0.473	RPL36AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276808.2			38	85	0	0	0	1	0	38	85					C	50085726	A	C	50085726	3	2	44	1	0	0	0	0	1	0	0	0	13588	11	1	5	227	5	RPL36AL	14	50085726	Missense_Mutation	SNP	A	TCGA-BJ-A4O8-01A-11D-A257-08		50085726	57263814	4	1098											
MCTP2	55784	broad.mit.edu	37	chr15	94841744	94841744	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggtgcccagcagtctgtccActgcagggatctttcccaag	11	14	2	0			TCGA-BJ-A4O8-01A-11D-A257-08	TCGA-BJ-A4O8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6163b00-1858-4448-a2ae-449c8c5f4d59	de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5	g.chr15:94841744A>G	ENST00000357742.4	+	1	250	c.250A>G	c.(250-252)Act>Gct	p.T84A	MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000451018.3_Missense_Mutation_p.T84A|MCTP2_ENST00000543482.1_Missense_Mutation_p.T84A	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	84					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CAGTCTGTCCACTGCAGGGAT	0.582																																						ENST00000357742.4																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49						c.(250-252)Act>Gct		multiple C2 domains, transmembrane 2							64	65	65					15																	94841744		2197	4298	6495	SO:0001583	missense	55784				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr15:94841744A>G	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.250A>G	15.37:g.94841744A>G	ENSP00000350377:p.Thr84Ala					MCTP2_ENST00000543482.1_Missense_Mutation_p.T84A|MCTP2_ENST00000451018.3_Missense_Mutation_p.T84A|MCTP2_ENST00000331706.4_5'UTR	p.T84A	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		1	250	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		84					A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	c.250A>G	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	A	16.88	3.244746	0.59103	.	.	ENSG00000140563	ENST00000543482;ENST00000556363;ENST00000451018;ENST00000357742	T;T;T	0.70164	-0.46;-0.23;-0.08	5.04	5.04	0.67666	.	0.000000	0.53938	D	0.000043	T	0.51176	0.1659	L	0.29908	0.895	0.43959	D	0.996634	P;P;B;P;P	0.46512	0.802;0.587;0.451;0.702;0.879	B;B;B;B;P	0.45639	0.337;0.225;0.112;0.182;0.488	T	0.50474	-0.8824	10	0.10377	T	0.69	.	5.3539	0.16050	0.7598:0.0:0.0837:0.1566	.	84;84;84;84;84	F5H415;Q6DN12-2;Q6DN12;B7Z6H2;G3V2J2	.;.;MCTP2_HUMAN;.;.	A	84	ENSP00000438521:T84A;ENSP00000395109:T84A;ENSP00000350377:T84A	ENSP00000350377:T84A	T	+	1	0	MCTP2	92642748	0.061000	0.20836	0.818000	0.32626	0.943000	0.58893	1.414000	0.34736	1.906000	0.55180	0.460000	0.39030	ACT		0.582	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		8	98	0	0	0	1	0	8	98					G	94841744	A	G	94841744	3	3	44	1	0	0	0	0	1	0	0	0	9401	159	6	3	252	3	MCTP2	15	94841744	Missense_Mutation	SNP	A	TCGA-BJ-A4O8-01A-11D-A257-08		94841744	7689648	5	1099											
PSG7	5676	broad.mit.edu	37	chr19	43430827	43430827	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacatccttattctccctggGgtttaagttattgatggtga	10	7	1	2			TCGA-BJ-A4O8-01A-11D-A257-08	TCGA-BJ-A4O8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6163b00-1858-4448-a2ae-449c8c5f4d59	de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5	g.chr19:43430827G>A	ENST00000406070.2	-	0	847				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				TTCTCCCTGGGGTTTAAGTTA	0.488																																						ENST00000446844.3																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)							297	288	291					19																	43430827		2201	4299	6500			5676				female pregnancy	extracellular region		g.chr19:43430827G>A			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9524	protein-coding gene	gene with protein product		176396	"pregnancy specific beta-1-glycoprotein 7"				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43430827G>A						PSG7_ENST00000406070.2_RNA				Q13046	PSG7_HUMAN			0	840	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.488	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		13	275	0	0	0	1	0	13	275					A	43430827	G	A	43430827	1	1	44	0	1	0	0	0	0	0	0	0	12660	1232	43	2		2	PSG7	19	43430827	RNA	SNP	G	TCGA-BJ-A4O8-01A-11D-A257-08		43430827	15698156	6	1100											
FAAH2	158584	broad.mit.edu	37	chrX	57358200	57358200	+	Frame_Shift_Del	DEL	C	C	-													aagatctatggccgatcaaaCaacccatatgatttacagca							TCGA-BJ-A4O8-01A-11D-A257-08	TCGA-BJ-A4O8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6163b00-1858-4448-a2ae-449c8c5f4d59	de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5	g.chrX:57358200delC	ENST00000374900.4	+	4	702	c.582delC	c.(580-582)aacfs	p.N195fs		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	195						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GCCGATCAAACAACCCATATG	0.388										HNSCC(52;0.14)																												ENST00000374900.4																			0				endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						c.(580-582)aafs		fatty acid amide hydrolase 2							175	137	150					X																	57358200		2203	4300	6503	SO:0001589	frameshift_variant	158584					integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity	g.chrX:57358200delC	AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"amidase domain containing"	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.582delC	X.37:g.57358200delC	ENSP00000364035:p.Asn195fs	HNSCC(52;0.14)					p.N195fs	NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN			4	702	+			195					Q86VT2|Q96N98	Frame_Shift_Del	DEL	ENST00000374900.4	37	c.582delC	CCDS14375.1																																																																																				0.388	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056919.1	NM_174912		9	87						9	87	---	---	---	---	-	57358200	C	-	57358200	7	5	44	1	0	1	0	1	0	0	0	0	5354	477	17	0	596	0	FAAH2	23	57358200	Frame_Shift_Del	DEL	C	TCGA-BJ-A4O8-01A-11D-A257-08		57358200	97912360	7	1101											
PLA2G2A	5320	broad.mit.edu	37	chr1	20302255	20302255	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtactggtactttttattgTaggtcgtcttgtttctagca	9	6	2	0			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr1:20302255T>C	ENST00000375111.3	-	6	645	c.374A>G	c.(373-375)tAc>tGc	p.Y125C	PLA2G2A_ENST00000496748.1_5'UTR|PLA2G2A_ENST00000400520.3_Missense_Mutation_p.Y125C	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN	phospholipase A2, group IIA (platelets, synovial fluid)	125					defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of epithelial cell proliferation (GO:0050680)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidic acid metabolic process (GO:0046473)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|small molecule metabolic process (GO:0044281)|somatic stem cell maintenance (GO:0035019)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|phospholipase A2 activity (GO:0004623)|phospholipid binding (GO:0005543)			central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Diclofenac(DB00586)|Ginkgo biloba(DB01381)|Indomethacin(DB00328)|Suramin(DB04786)	CTTTTTATTGTAGGTCGTCTT	0.458																																						ENST00000375111.3																			0				central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9						c.(373-375)tAc>tGc		phospholipase A2, group IIA (platelets, synovial fluid)							172	162	165					1																	20302255		2203	4300	6503	SO:0001583	missense	5320				defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding	g.chr1:20302255T>C	BC005919	CCDS201.1	1p35	2008-09-19			ENSG00000188257	ENSG00000188257	3.1.1.4		9031	protein-coding gene	gene with protein product		172411		PLA2B, PLA2L		8838795	Standard	NM_000300		Approved		uc010odb.2	P14555	OTTHUMG00000002699	ENST00000375111.3:c.374A>G	1.37:g.20302255T>C	ENSP00000364252:p.Tyr125Cys					PLA2G2A_ENST00000400520.3_Missense_Mutation_p.Y125C|PLA2G2A_ENST00000496748.1_5'UTR	p.Y125C	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	6	645	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	125					A8K5I7|Q6DN24|Q6IBD9|Q9UCD2	Missense_Mutation	SNP	ENST00000375111.3	37	c.374A>G	CCDS201.1	.	.	.	.	.	.	.	.	.	.	T	14.07	2.425081	0.43020	.	.	ENSG00000188257	ENST00000400520;ENST00000375111	T;T	0.44881	0.91;0.91	4.9	3.75	0.43078	Phospholipase A2 (3);	0.000000	0.44097	D	0.000486	T	0.71728	0.3374	H	0.96175	3.78	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66436	-0.5924	10	0.87932	D	0	.	8.7455	0.34583	0.0:0.0:0.1919:0.8081	.	125	P14555	PA2GA_HUMAN	C	125	ENSP00000383364:Y125C;ENSP00000364252:Y125C	ENSP00000364252:Y125C	Y	-	2	0	PLA2G2A	20174842	0.727000	0.28069	0.032000	0.17829	0.004000	0.04260	1.474000	0.35398	0.970000	0.38263	0.460000	0.39030	TAC		0.458	PLA2G2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007675.1	NM_000300		41	42	0	0	0	1	0	41	42					C	20302255	T	C	20302255	3	2	45	1	0	0	0	0	1	0	0	0	11995	1638	57	3	64	3	PLA2G2A	1	20302255	Missense_Mutation	SNP	T	TCGA-BJ-A4O9-01A-11D-A257-08		20302255	228948366	1	1102											
OBSCN	84033	broad.mit.edu	37	chr1	228506696	228506696	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccctggctcggaaacgtcGcatgagccgtgagcccacgc	14	15	0	2	rs377346099		TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr1:228506696G>T	ENST00000422127.1	+	54	14287	c.14243G>T	c.(14242-14244)cGc>cTc	p.R4748L	OBSCN_ENST00000284548.11_Missense_Mutation_p.R4748L|OBSCN_ENST00000570156.2_Missense_Mutation_p.R5705L|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2382L|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1867L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4748					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGGAAACGTCGCATGAGCCGT	0.682																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(17113-17115)cGc>cTc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							18	22	20					1																	228506696		2195	4282	6477	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228506696G>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.14243G>T	1.37:g.228506696G>T	ENSP00000409493:p.Arg4748Leu					OBSCN_ENST00000366707.4_Missense_Mutation_p.R2382L|OBSCN_ENST00000422127.1_Missense_Mutation_p.R4748L|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1867L|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4748L	p.R5705L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			65	17188	+		Prostate(94;0.0405)	4748			DH.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.17114G>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769674	0.90020	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.71579	-0.18;-0.58;-0.51;0.0	4.03	4.03	0.46877	.	0.000000	0.64402	D	0.000006	T	0.72301	0.3443	L	0.34521	1.04	0.49687	D	0.999816	D;D	0.63880	0.989;0.993	P;P	0.58577	0.698;0.841	T	0.70270	-0.4918	10	0.27082	T	0.32	.	16.3454	0.83126	0.0:0.0:1.0:0.0	.	4748;4748	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	L	4748;4748;2382;1867	ENSP00000284548:R4748L;ENSP00000409493:R4748L;ENSP00000355668:R2382L;ENSP00000355670:R1867L	ENSP00000284548:R4748L	R	+	2	0	OBSCN	226573319	1.000000	0.71417	1.000000	0.80357	0.469000	0.32828	9.500000	0.97977	2.085000	0.62840	0.313000	0.20887	CGC		0.682	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		5	1	1	0	1.23904e-05	1	1.36947e-05	5	1					T	228506696	G	T	228506696	3	4	45	1	0	0	0	0	1	0	0	0	10812	1087	38	4	14453	4	OBSCN	1	228506696	Missense_Mutation	SNP	G	TCGA-BJ-A4O9-01A-11D-A257-08	208204441	228506696	20743925	2	1103											
ERBB4	2066	broad.mit.edu	37	chr2	212251745	212251745	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gtagggtgccattacagcagGagtcatcaaaaatctcagca	10	9	3	0			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr2:212251745G>C	ENST00000342788.4	-	27	3624	c.3314C>G	c.(3313-3315)tCc>tGc	p.S1105C	ERBB4_ENST00000436443.1_Missense_Mutation_p.S1089C|ERBB4_ENST00000402597.1_Missense_Mutation_p.S1095C	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1105					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	ATTACAGCAGGAGTCATCAAA	0.557										TSP Lung(8;0.080)																												ENST00000342788.4																			0				NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(3313-3315)tCc>tGc		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							130	119	123					2																	212251745		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212251745G>C	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3314C>G	2.37:g.212251745G>C	ENSP00000342235:p.Ser1105Cys	TSP Lung(8;0.080)				ERBB4_ENST00000436443.1_Missense_Mutation_p.S1089C|ERBB4_ENST00000402597.1_Missense_Mutation_p.S1095C	p.S1105C	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	27	3624	-		Renal(323;0.06)|Lung NSC(271;0.197)	1105					B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.3314C>G	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.643337	0.47153	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.75477	-0.94;-0.94;-0.94	5.73	5.73	0.89815	.	0.594998	0.18186	N	0.148996	T	0.72598	0.3480	L	0.29908	0.895	0.27079	N	0.963142	B;B;B;B	0.33512	0.415;0.346;0.415;0.291	B;P;B;B	0.45474	0.163;0.482;0.163;0.125	T	0.69390	-0.5158	10	0.56958	D	0.05	.	13.1437	0.59448	0.0729:0.0:0.9271:0.0	.	1079;1095;1089;1105	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	C	1105;1089;1095	ENSP00000342235:S1105C;ENSP00000403204:S1089C;ENSP00000385565:S1095C	ENSP00000342235:S1105C	S	-	2	0	ERBB4	211959990	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.198000	0.42705	2.707000	0.92482	0.561000	0.74099	TCC		0.557	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		37	54	0	0	0	1	0	37	54					C	212251745	G	C	212251745	3	2	45	1	0	0	0	0	1	0	0	0	5209	1174	41	4	620	4	ERBB4	2	212251745	Missense_Mutation	SNP	G	TCGA-BJ-A4O9-01A-11D-A257-08		212251745	30947628	3	1104											
APPL1	26060	broad.mit.edu	37	chr3	57282228	57282228	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttctgtgtcagtgttcgcAgggaaatggacagtgatata	13	5	2	1			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr3:57282228A>G	ENST00000288266.3	+	10	859	c.712A>G	c.(712-714)Agg>Ggg	p.R238G		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	238	Required for RAB5A binding.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		CAGTGTTCGCAGGGAAATGGA	0.408																																						ENST00000288266.3																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27						c.(712-714)Agg>Ggg		adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1							114	105	108					3																	57282228		2203	4300	6503	SO:0001583	missense	26060				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding	g.chr3:57282228A>G	AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"Pleckstrin homology (PH) domain containing"	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.712A>G	3.37:g.57282228A>G	ENSP00000288266:p.Arg238Gly						p.R238G	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)	10	859	+			238			Required for RAB5A binding.		Q9P2B9	Missense_Mutation	SNP	ENST00000288266.3	37	c.712A>G	CCDS2882.1	.	.	.	.	.	.	.	.	.	.	A	12.08	1.830037	0.32329	.	.	ENSG00000157500	ENST00000288266	T	0.04654	3.58	6.06	6.06	0.98353	.	0.137575	0.64402	D	0.000006	T	0.05914	0.0154	L	0.38838	1.175	0.48236	D	0.999613	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43048	-0.9415	10	0.22109	T	0.4	-6.4887	16.6245	0.84952	1.0:0.0:0.0:0.0	.	221;238	B4DQX8;Q9UKG1	.;DP13A_HUMAN	G	238	ENSP00000288266:R238G	ENSP00000288266:R238G	R	+	1	2	APPL1	57257268	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.884000	0.63135	2.323000	0.78572	0.528000	0.53228	AGG		0.408	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	NM_012096		6	67	0	0	0	1	0	6	67					G	57282228	A	G	57282228	3	3	45	1	0	0	0	0	1	0	0	0	817	179	7	3	750	3	APPL1	3	57282228	Missense_Mutation	SNP	A	TCGA-BJ-A4O9-01A-11D-A257-08		57282228	140740202	4	1105											
PDIA5	10954	broad.mit.edu	37	chr3	122808075	122808075	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgctcattgagagaatctctGaccccaaggacttgaaaaaa	8	10	2	4			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr3:122808075G>A	ENST00000316218.7	+	2	198	c.103G>A	c.(103-105)Gac>Aac	p.D35N		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	35					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		GAGAATCTCTGACCCCAAGGA	0.512																																						ENST00000316218.7																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21						c.(103-105)Gac>Aac		protein disulfide isomerase family A, member 5							121	117	119					3																	122808075		2203	4300	6503	SO:0001583	missense	10954				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr3:122808075G>A	AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"Protein disulfide isomerases"	24811	protein-coding gene	gene with protein product			"protein disulfide isomerase-associated 5"			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.103G>A	3.37:g.122808075G>A	ENSP00000323313:p.Asp35Asn						p.D35N	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN		GBM - Glioblastoma multiforme(114;0.0427)	2	198	+			35					D3DN95|Q9BV43	Missense_Mutation	SNP	ENST00000316218.7	37	c.103G>A	CCDS3020.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.501352	0.44455	.	.	ENSG00000065485	ENST00000316218	T	0.05580	3.42	5.13	4.25	0.50352	Thioredoxin-like fold (1);	0.097336	0.64402	D	0.000001	T	0.12135	0.0295	L	0.50333	1.59	0.48135	D	0.999599	D	0.61080	0.989	P	0.55749	0.783	T	0.11891	-1.0569	10	0.26408	T	0.33	.	9.6741	0.40030	0.094:0.0:0.906:0.0	.	35	Q14554	PDIA5_HUMAN	N	35	ENSP00000323313:D35N	ENSP00000323313:D35N	D	+	1	0	PDIA5	124290765	1.000000	0.71417	0.970000	0.41538	0.089000	0.18198	7.299000	0.78831	1.535000	0.49220	-0.136000	0.14681	GAC		0.512	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356192.1	NM_006810		36	54	0	0	0	1	0	36	54					A	122808075	G	A	122808075	3	1	45	1	0	0	0	0	1	0	0	0	11671	1290	45	2	109	2	PDIA5	3	122808075	Missense_Mutation	SNP	G	TCGA-BJ-A4O9-01A-11D-A257-08	65525847	122808075	75214355	5	1106											
MBLAC1	255374	broad.mit.edu	37	chr7	99725100	99725100	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtggttctgctgcagggcTacgcggagccagagggtgtg	19	8	1	1			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr7:99725100T>C	ENST00000398075.2	+	2	481	c.82T>C	c.(82-84)Tac>Cac	p.Y28H	RP11-506M12.1_ENST00000494221.1_RNA	NM_203397.1	NP_981942.1	A4D2B0	MBLC1_HUMAN	metallo-beta-lactamase domain containing 1	28							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	7						GCTGCAGGGCTACGCGGAGCC	0.726																																						ENST00000398075.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	7						c.(82-84)Tac>Cac		metallo-beta-lactamase domain containing 1							11	13	12					7																	99725100		2041	4167	6208	SO:0001583	missense	255374						hydrolase activity|metal ion binding	g.chr7:99725100T>C	BC031288	CCDS43620.1	7q22	2014-02-12	2009-04-08		ENSG00000214309	ENSG00000214309			22180	protein-coding gene	gene with protein product							Standard	XM_005250250		Approved	MGC49416	uc003utp.3	A4D2B0	OTTHUMG00000154846	ENST00000398075.2:c.82T>C	7.37:g.99725100T>C	ENSP00000381150:p.Tyr28His						p.Y28H	NM_203397.1	NP_981942.1	A4D2B0	MBLC1_HUMAN			2	481	+			28					Q8N5X8	Missense_Mutation	SNP	ENST00000398075.2	37	c.82T>C	CCDS43620.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.458899	0.84317	.	.	ENSG00000214309	ENST00000398075;ENST00000421390	T;T	0.60920	0.9;0.15	4.41	4.41	0.53225	.	0.000000	0.52532	U	0.000078	T	0.62612	0.2442	L	0.29908	0.895	0.38421	D	0.94617	D	0.71674	0.998	D	0.77557	0.99	T	0.68112	-0.5495	10	0.87932	D	0	.	10.2222	0.43203	0.0:0.0:0.0:1.0	.	28	A4D2B0	MBLC1_HUMAN	H	28	ENSP00000381150:Y28H;ENSP00000406055:Y28H	ENSP00000381150:Y28H	Y	+	1	0	MBLAC1	99563036	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	3.664000	0.54525	1.994000	0.58287	0.459000	0.35465	TAC		0.726	MBLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337353.1	NM_203397		3	9	0	0	0	1	0	3	9					C	99725100	T	C	99725100	3	2	45	1	0	0	0	0	1	0	0	0	9351	1522	53	3	84	3	MBLAC1	7	99725100	Missense_Mutation	SNP	T	TCGA-BJ-A4O9-01A-11D-A257-08		99725100	59413563	6	1107											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		30	31	0	0	0	1	0	30	31					T	140453136	A	T	140453136	3	4	45	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A4O9-01A-11D-A257-08	40728036	140453136	18685527	7	1108											
RAD23B	5887	broad.mit.edu	37	chr9	110074019	110074019	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agatgcaacgagtgcacttgGtaagtatctgcttttcctta	9	8	1	1			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr9:110074019G>T	ENST00000358015.3	+	5	904		c.e5+1		RAD23B_ENST00000416373.2_Splice_Site	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)						DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AGTGCACTTGGTAAGTATCTG	0.308								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358015.3																			0				breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.e5+1	Direct reversal of damage;Nucleotide excision repair (NER)	RAD23 homolog B (S. cerevisiae)							72	72	72					9																	110074019		2203	4298	6501	SO:0001630	splice_region_variant	5887				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	g.chr9:110074019G>T		CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318			9813	protein-coding gene	gene with protein product	"XP-C repair complementing protein", "XP-C repair complementing complex 58 kDa"	600062	"RAD23 (S. cerevisiae) homolog B"			7851894, 8168482	Standard	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.553+1G>T	9.37:g.110074019G>T						RAD23B_ENST00000416373.2_Splice_Site		NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN			5	904	+								B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	Splice_Site	SNP	ENST00000358015.3	37		CCDS6769.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950116	0.73787	.	.	ENSG00000119318	ENST00000358015;ENST00000374678;ENST00000416373;ENST00000457811	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8548	0.92247	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RAD23B	109113840	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.786000	0.75094	2.520000	0.84964	0.650000	0.86243	.		0.308	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053548.1	NM_002874	Intron	15	19	1	0	3.32936e-07	1	3.77927e-07	15	19					T	110074019	G	T	110074019	5	4	45	1	0	0	0	0	0	0	1	0	12983	1275	44	4	572	4	RAD23B	9	110074019	Splice_Site	SNP	G	TCGA-BJ-A4O9-01A-11D-A257-08		110074019	31139412	8	1109											
C10orf68	79741	broad.mit.edu	37	chr10	33165316	33165316	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatctgtaccacacccatacTtttgagaatgaaggaaattc	6	9	1	2			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr10:33165316T>C	ENST00000375030.2	+	23	2377	c.1759T>C	c.(1759-1761)Ttt>Ctt	p.F587L	C10orf68_ENST00000375028.3_Missense_Mutation_p.F632L|C10orf68_ENST00000375025.4_Missense_Mutation_p.F692L			Q9H943	CJ068_HUMAN		628										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						ACACCCATACTTTTGAGAATG	0.318																																						ENST00000375030.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						c.(1759-1761)Ttt>Ctt		chromosome 10 open reading frame 68							76	74	75					10																	33165316		2203	4300	6503	SO:0001583	missense	79741							g.chr10:33165316T>C																												ENST00000375030.2:c.1759T>C	10.37:g.33165316T>C	ENSP00000364170:p.Phe587Leu					C10orf68_ENST00000375028.3_Missense_Mutation_p.F632L|C10orf68_ENST00000375025.4_Missense_Mutation_p.F692L	p.F587L			Q9H943	CJ068_HUMAN			23	2377	+			628					B0QZ71|Q08AN7|Q8N7T7	Missense_Mutation	SNP	ENST00000375030.2	37	c.1759T>C		.	.	.	.	.	.	.	.	.	.	.	16.72	3.200741	0.58126	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375028;ENST00000375025;ENST00000375037	T;T;T;T	0.28666	1.63;1.61;1.6;1.6	3.48	2.36	0.29203	.	.	.	.	.	T	0.15132	0.0365	N	0.08118	0	0.09310	N	1	P;P;P;P	0.41393	0.518;0.748;0.518;0.748	B;B;B;B	0.40009	0.146;0.316;0.146;0.237	T	0.09143	-1.0688	9	0.87932	D	0	.	4.0778	0.09912	0.0:0.189:0.0:0.811	.	609;628;632;587	B4DX58;Q9H943;A2A3B4;A2A3D6	.;CJ068_HUMAN;.;.	L	628;587;632;692;604	ENSP00000303710:F628L;ENSP00000364170:F587L;ENSP00000364168:F632L;ENSP00000364165:F692L	ENSP00000303710:F628L	F	+	1	0	C10orf68	33205322	0.000000	0.05858	0.002000	0.10522	0.214000	0.24535	0.052000	0.14163	0.729000	0.32403	0.533000	0.62120	TTT		0.318	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000313999.2			3	40	0	0	0	1	0	3	40					C	33165316	T	C	33165316	3	2	45	1	0	0	0	0	1	0	0	0	1613	1609	56	3	1960	3	C10orf68	10	33165316	Missense_Mutation	SNP	T	TCGA-BJ-A4O9-01A-11D-A257-08		33165316	102369431	9	1110											
C2CD3	26005	broad.mit.edu	37	chr11	73834059	73834059	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgtataaaataaattctccaGaagactctggtcatactgag	7	7	3	3			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr11:73834059G>C	ENST00000334126.7	-	8	1565	c.1339C>G	c.(1339-1341)Ctg>Gtg	p.L447V	C2CD3_ENST00000313663.7_Missense_Mutation_p.L447V			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	447					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AAATTCTCCAGAAGACTCTGG	0.428																																						ENST00000334126.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.(1339-1341)Ctg>Gtg		C2 calcium-dependent domain containing 3							66	68	67					11																	73834059		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73834059G>C	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.1339C>G	11.37:g.73834059G>C	ENSP00000334379:p.Leu447Val					C2CD3_ENST00000313663.7_Missense_Mutation_p.L447V	p.L447V			Q4AC94	C2CD3_HUMAN			8	1565	-	Breast(11;4.16e-06)		447					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.1339C>G		.	.	.	.	.	.	.	.	.	.	G	15.15	2.748616	0.49257	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.33216	1.42;1.54	5.52	1.62	0.23740	.	0.000000	0.64402	D	0.000003	T	0.48926	0.1527	M	0.68952	2.095	0.30119	N	0.805861	D;D	0.89917	1.0;0.998	D;D	0.83275	0.994;0.996	T	0.50224	-0.8853	10	0.87932	D	0	-0.214	9.6512	0.39899	0.344:0.0:0.656:0.0	.	447;447	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	V	447	ENSP00000334379:L447V;ENSP00000323339:L447V	ENSP00000323339:L447V	L	-	1	2	C2CD3	73511707	0.998000	0.40836	0.998000	0.56505	0.635000	0.38103	2.494000	0.45329	0.047000	0.15862	-0.258000	0.10820	CTG		0.428	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		25	30	0	0	0	1	0	25	30					C	73834059	G	C	73834059	3	2	45	1	0	0	0	0	1	0	0	0	2154	933	33	4	4648	4	C2CD3	11	73834059	Missense_Mutation	SNP	G	TCGA-BJ-A4O9-01A-11D-A257-08		73834059	61172457	10	1111											
OR6C75	390323	broad.mit.edu	37	chr12	55759422	55759422	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatgtaattgatcattttatCtgtgactcttctccaatgct	5	8	4	2			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr12:55759422C>T	ENST00000343399.3	+	1	528	c.528C>T	c.(526-528)atC>atT	p.I176I		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	176						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(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						ATCATTTTATCTGTGACTCTT	0.428																																						ENST00000343399.3																			0				endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						c.(526-528)atC>atT		olfactory receptor, family 6, subfamily C, member 75							168	145	152					12																	55759422		2203	4300	6503	SO:0001819	synonymous_variant	390323				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55759422C>T		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"GPCR / Class A : Olfactory receptors"	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.528C>T	12.37:g.55759422C>T							p.I176I	NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN			1	528	+			176						Silent	SNP	ENST00000343399.3	37	c.528C>T	CCDS31820.1																																																																																				0.428	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1			22	35	0	0	0	1	0	22	35					T	55759422	C	T	55759422	2	4	45	1	0	0	0	0	0	0	0	1	11199	903	32	2		2	OR6C75	12	55759422	Silent	SNP	C	TCGA-BJ-A4O9-01A-11D-A257-08		55759422	78092473	11	1112											
TRHDE	29953	broad.mit.edu	37	chr12	72956810	72956810	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaactaaagcacttaaacttCagaataacaggtatgacatt	5	7	1	2			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr12:72956810C>T	ENST00000261180.4	+	9	1993	c.1897C>T	c.(1897-1899)Cag>Tag	p.Q633*	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	633					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACTTAAACTTCAGAATAACAG	0.274																																						ENST00000261180.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(1897-1899)Cag>Tag		thyrotropin-releasing hormone degrading enzyme							74	80	78					12																	72956810		2203	4292	6495	SO:0001587	stop_gained	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72956810C>T	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1897C>T	12.37:g.72956810C>T	ENSP00000261180:p.Gln633*					TRHDE_ENST00000549138.1_3'UTR	p.Q633*	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			9	1993	+			633					A5PL19|Q6UWJ4	Nonsense_Mutation	SNP	ENST00000261180.4	37	c.1897C>T	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	C	37	5.992750	0.97179	.	.	ENSG00000072657	ENST00000261180	.	.	.	6.17	5.27	0.74061	.	1.137960	0.06297	N	0.700240	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	9.3126	0.37915	0.1174:0.6239:0.2588:0.0	.	.	.	.	X	633	.	ENSP00000261180:Q633X	Q	+	1	0	TRHDE	71243077	0.967000	0.33354	0.977000	0.42913	0.498000	0.33706	1.145000	0.31577	2.941000	0.99782	0.655000	0.94253	CAG		0.274	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		33	58	0	0	0	1	0	33	58					T	72956810	C	T	72956810	4	4	45	1	0	0	0	0	0	1	0	0	16476	827	29	2	1931	2	TRHDE	12	72956810	Nonsense_Mutation	SNP	C	TCGA-BJ-A4O9-01A-11D-A257-08	17197388	72956810	60895085	12	1113											
DPF3	8110	broad.mit.edu	37	chr14	73220067	73220067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggtatgtatacagctggCccggggcaaggcctgtggac	16	10	0	0			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr14:73220067C>T	ENST00000556509.1	-	3	205	c.206G>A	c.(205-207)gGc>gAc	p.G69D	DPF3_ENST00000541685.1_Missense_Mutation_p.G69D|DPF3_ENST00000546183.1_Missense_Mutation_p.G79D	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	69					chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		ATACAGCTGGCCCGGGGCAAG	0.542																																						ENST00000541685.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22						c.(205-207)gGc>gAc		D4, zinc and double PHD fingers, family 3							38	37	37					14																	73220067		1871	4110	5981	SO:0001583	missense	8110				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding	g.chr14:73220067C>T	U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"Zinc fingers, PHD-type"	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.206G>A	14.37:g.73220067C>T	ENSP00000450518:p.Gly69Asp					DPF3_ENST00000556509.1_Missense_Mutation_p.G69D|DPF3_ENST00000546183.1_Missense_Mutation_p.G79D	p.G69D	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	3	218	-			69					A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Missense_Mutation	SNP	ENST00000556509.1	37	c.206G>A		.	.	.	.	.	.	.	.	.	.	C	25.1	4.601567	0.87055	.	.	ENSG00000205683	ENST00000540281;ENST00000556509;ENST00000398816;ENST00000541685;ENST00000546183	D;T;T	0.91521	-2.86;-0.39;-0.41	5.58	5.58	0.84498	.	.	.	.	.	D	0.94840	0.8333	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.95102	0.8231	9	0.87932	D	0	.	16.4812	0.84158	0.0:1.0:0.0:0.0	.	79;69;69	F5H575;Q92784-2;Q92784	.;.;DPF3_HUMAN	D	69;69;68;69;79	ENSP00000450518:G69D;ENSP00000441640:G69D;ENSP00000444662:G79D	ENSP00000381791:G124D	G	-	2	0	DPF3	72289820	1.000000	0.71417	0.996000	0.52242	0.968000	0.65278	5.726000	0.68515	2.633000	0.89246	0.561000	0.74099	GGC		0.542	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000413152.2			3	21	0	0	0	1	0	3	21					T	73220067	C	T	73220067	3	4	45	1	0	0	0	0	1	0	0	0	4718	739	26	2	895	2	DPF3	14	73220067	Missense_Mutation	SNP	C	TCGA-BJ-A4O9-01A-11D-A257-08		73220067	34129473	13	1114											
ZFYVE1	53349	broad.mit.edu	37	chr14	73491207	73491207	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctctgctggggaagtctGggcactcatactcacgctgg	12	12	4	0			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr14:73491207G>A	ENST00000556143.1	-	2	730	c.10C>T	c.(10-12)Cag>Tag	p.Q4*	ZFYVE1_ENST00000553891.1_Nonsense_Mutation_p.Q4*|ZFYVE1_ENST00000318876.5_Nonsense_Mutation_p.Q4*	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	4					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		GGGGAAGTCTGGGCACTCATA	0.527																																						ENST00000556143.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35						c.(10-12)Cag>Tag		zinc finger, FYVE domain containing 1							47	41	43					14																	73491207		2203	4300	6503	SO:0001587	stop_gained	53349					endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	g.chr14:73491207G>A	AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"Zinc fingers, FYVE domain containing"	13180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 172"	605471	"zinc finger protein, subfamily 2A (FYVE domain containing), 1"	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.10C>T	14.37:g.73491207G>A	ENSP00000450742:p.Gln4*					ZFYVE1_ENST00000318876.5_Nonsense_Mutation_p.Q4*|ZFYVE1_ENST00000553891.1_Nonsense_Mutation_p.Q4*	p.Q4*	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)	2	730	-		all_lung(585;1.33e-09)	4					J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Nonsense_Mutation	SNP	ENST00000556143.1	37	c.10C>T	CCDS9811.1	.	.	.	.	.	.	.	.	.	.	G	41	9.009203	0.99035	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143	.	.	.	5.66	5.66	0.87406	.	0.259562	0.39083	N	0.001477	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-8.9302	19.8043	0.96521	0.0:0.0:1.0:0.0	.	.	.	.	X	4	.	ENSP00000326921:Q4X	Q	-	1	0	ZFYVE1	72560960	1.000000	0.71417	0.997000	0.53966	0.599000	0.36880	9.023000	0.93683	2.695000	0.91970	0.585000	0.79938	CAG		0.527	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		5	33	0	0	0	1	0	5	33					A	73491207	G	A	73491207	4	1	45	1	0	0	0	0	0	1	0	0	17660	1357	47	2	2367	2	ZFYVE1	14	73491207	Nonsense_Mutation	SNP	G	TCGA-BJ-A4O9-01A-11D-A257-08	271140	73491207	33858333	14	1115											
AKT1	207	broad.mit.edu	37	chr14	105242025	105242025	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttggccagggacacctccatCtcttcagcccctgagttgtc	9	15	2	1			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr14:105242025C>G	ENST00000554581.1	-	4	1879	c.399G>C	c.(397-399)gaG>gaC	p.E133D	AKT1_ENST00000554192.1_5'Flank|AKT1_ENST00000544168.1_Missense_Mutation_p.E71D|AKT1_ENST00000349310.3_Missense_Mutation_p.E133D|AKT1_ENST00000407796.2_Missense_Mutation_p.E133D|AKT1_ENST00000402615.2_Missense_Mutation_p.E133D|AKT1_ENST00000554848.1_Missense_Mutation_p.E133D|AKT1_ENST00000554585.1_5'Flank|AKT1_ENST00000555528.1_Missense_Mutation_p.E133D|AKT1_ENST00000555458.1_5'Flank			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	133					activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	ACACCTCCATCTCTTCAGCCC	0.647		1	Mis		"breast, colorectal, ovarian, NSCLC"																																	ENST00000554581.1		1		Dom	yes		14	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1			E			"breast, colorectal, ovarian, NSCLC"		0				NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176						c.(397-399)gaG>gaC		v-akt murine thymoma viral oncogene homolog 1	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)						136	102	114					14																	105242025		2203	4300	6503	SO:0001583	missense	207				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	g.chr14:105242025C>G	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"Pleckstrin homology (PH) domain containing"	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.399G>C	14.37:g.105242025C>G	ENSP00000451828:p.Glu133Asp					AKT1_ENST00000407796.2_Missense_Mutation_p.E133D|AKT1_ENST00000402615.2_Missense_Mutation_p.E133D|AKT1_ENST00000349310.3_Missense_Mutation_p.E133D|AKT1_ENST00000555528.1_Missense_Mutation_p.E133D|AKT1_ENST00000554848.1_Missense_Mutation_p.E133D|AKT1_ENST00000544168.1_Missense_Mutation_p.E71D	p.E133D			P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	4	1879	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	133					B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	ENST00000554581.1	37	c.399G>C	CCDS9994.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.745688	0.30955	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000544168;ENST00000554848;ENST00000555380	T;T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	3.9	3.9	0.45041	.	0.060573	0.64402	D	0.000005	T	0.21509	0.0518	N	0.08118	0	0.44635	D	0.997619	B	0.02656	0.0	B	0.04013	0.001	T	0.09862	-1.0655	10	0.18276	T	0.48	.	4.7077	0.12858	0.0:0.707:0.0:0.293	.	133	P31749	AKT1_HUMAN	D	133;133;133;133;133;71;133;71	ENSP00000451828:E133D;ENSP00000384293:E133D;ENSP00000270202:E133D;ENSP00000385326:E133D;ENSP00000450688:E133D;ENSP00000443897:E71D;ENSP00000451166:E133D;ENSP00000451290:E71D	ENSP00000270202:E133D	E	-	3	2	AKT1	104313070	0.967000	0.33354	1.000000	0.80357	0.937000	0.57800	-0.044000	0.12023	2.001000	0.58596	0.448000	0.29417	GAG		0.647	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163		22	24	0	0	0	1	0	22	24					G	105242025	C	G	105242025	3	3	45	1	0	0	0	0	1	0	0	0	478	912	32	4	1083	4	AKT1	14	105242025	Missense_Mutation	SNP	C	TCGA-BJ-A4O9-01A-11D-A257-08	31750818	105242025	2107515	15	1116											
RAB27A	5873	broad.mit.edu	37	chr15	55497815	55497815	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggacttgtccacacaccgttCcattcgcttcattatcaggt	7	13	2	0			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr15:55497815C>A	ENST00000396307.2	-	6	807	c.556G>T	c.(556-558)Gaa>Taa	p.E186*	RAB27A_ENST00000336787.1_Nonsense_Mutation_p.E186*|RAB27A_ENST00000564609.1_Nonsense_Mutation_p.E186*|RAB27A_ENST00000569493.1_Nonsense_Mutation_p.E186*	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	186					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cytotoxic T cell degranulation (GO:0043316)|exocytosis (GO:0006887)|exosomal secretion (GO:1990182)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|multivesicular body organization (GO:0036257)|multivesicular body sorting pathway (GO:0071985)|natural killer cell degranulation (GO:0043320)|positive regulation of exocytosis (GO:0045921)|positive regulation of gene expression (GO:0010628)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle transport (GO:0048489)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|photoreceptor outer segment (GO:0001750)|secretory granule membrane (GO:0030667)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		ACACACCGTTCCATTCGCTTC	0.468																																						ENST00000396307.2																			0				endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9						c.(556-558)Gaa>Taa		RAB27A, member RAS oncogene family							354	283	307					15																	55497815		2193	4292	6485	SO:0001587	stop_gained	5873				small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity	g.chr15:55497815C>A	U38654	CCDS10153.1	15q15-q21.1	2014-09-17			ENSG00000069974	ENSG00000069974		"RAB, member RAS oncogene"	9766	protein-coding gene	gene with protein product		603868				7592656	Standard	NM_183235		Approved	RAB27, RAM, GS2, HsT18676	uc002acq.3	P51159	OTTHUMG00000131959	ENST00000396307.2:c.556G>T	15.37:g.55497815C>A	ENSP00000379601:p.Glu186*					RAB27A_ENST00000569493.1_Nonsense_Mutation_p.E186*|RAB27A_ENST00000564609.1_Nonsense_Mutation_p.E186*|RAB27A_ENST00000336787.1_Nonsense_Mutation_p.E186*	p.E186*	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN		all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)	6	807	-			186					O00195|Q6FI40|Q9UIR9|Q9Y5U3	Nonsense_Mutation	SNP	ENST00000396307.2	37	c.556G>T	CCDS10153.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.807351	0.90623	.	.	ENSG00000069974	ENST00000396307;ENST00000396304;ENST00000336787	.	.	.	5.49	4.56	0.56223	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-6.3418	15.4401	0.75176	0.0:0.8608:0.1392:0.0	.	.	.	.	X	186;178;186	.	ENSP00000337761:E186X	E	-	1	0	RAB27A	53285107	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	5.996000	0.70639	1.300000	0.44818	0.655000	0.94253	GAA		0.468	RAB27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254918.1	NM_004580, NM_183236		62	83	1	0	3.37043e-27	1	3.93217e-27	62	83					A	55497815	C	A	55497815	4	1	45	1	0	0	0	0	0	1	0	0	12914	864	30	4	113	4	RAB27A	15	55497815	Nonsense_Mutation	SNP	C	TCGA-BJ-A4O9-01A-11D-A257-08		55497815	47033577	16	1117											
MPI	4351	broad.mit.edu	37	chr15	75182420	75182420	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcagggggcgagcatggcCgctccgcgaggtgagccatt	18	11	0	1	rs149477499		TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr15:75182420C>T	ENST00000352410.4	+	1	73	c.6C>T	c.(4-6)gcC>gcT	p.A2A	MPI_ENST00000565576.1_Silent_p.A2A|MPI_ENST00000563422.1_Silent_p.A2A|MPI_ENST00000566377.1_Silent_p.A2A|MPI_ENST00000564003.1_5'UTR|MPI_ENST00000563786.1_5'UTR|MPI_ENST00000562606.1_5'UTR|MPI_ENST00000535694.1_5'UTR|MPI_ENST00000323744.6_Silent_p.A2A			P34949	MPI_HUMAN	mannose phosphate isomerase	2					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	mannose-6-phosphate isomerase activity (GO:0004476)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						CGAGCATGGCCGCTCCGCGAG	0.662																																						ENST00000352410.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						c.(4-6)gcC>gcT		mannose phosphate isomerase		C		1,4393		0,1,2196	41	44	43		6	-8.6	0.0	15	dbSNP_134	43	0,8588		0,0,4294	no	coding-synonymous	MPI	NM_002435.1		0,1,6490	TT,TC,CC		0.0,0.0228,0.0077		2/424	75182420	1,12981	2197	4294	6491	SO:0001819	synonymous_variant	4351				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding	g.chr15:75182420C>T		CCDS10272.1, CCDS73756.1, CCDS73757.1, CCDS73758.1	15q24.1	2013-09-19			ENSG00000178802	ENSG00000178802	5.3.1.8		7216	protein-coding gene	gene with protein product	"mannose-6-phosphate isomerase"	154550					Standard	NM_002435		Approved		uc002azc.1	P34949	OTTHUMG00000142826	ENST00000352410.4:c.6C>T	15.37:g.75182420C>T						MPI_ENST00000323744.6_Silent_p.A2A|MPI_ENST00000563422.1_Silent_p.A2A|MPI_ENST00000565576.1_Silent_p.A2A|MPI_ENST00000566377.1_Silent_p.A2A|MPI_ENST00000535694.1_5'UTR|MPI_ENST00000562606.1_5'UTR|MPI_ENST00000563786.1_5'UTR|MPI_ENST00000564003.1_5'UTR	p.A2A			P34949	MPI_HUMAN			1	73	+			2					A8K8K9|Q96AB0	Silent	SNP	ENST00000352410.4	37	c.6C>T	CCDS10272.1																																																																																				0.662	MPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286418.4			15	23	0	0	0	1	0	15	23					T	75182420	C	T	75182420	2	4	45	1	0	0	0	0	0	0	0	1	9729	639	23	1		1	MPI	15	75182420	Silent	SNP	C	TCGA-BJ-A4O9-01A-11D-A257-08	19684605	75182420	27348972	17	1118											
MLYCD	23417	broad.mit.edu	37	chr16	83948837	83948837	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gcgcctggtacctgtatggaGagaagcaccgcggctacgcg	15	12	0	1			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr16:83948837G>C	ENST00000262430.4	+	5	1244	c.1225G>C	c.(1225-1227)Gag>Cag	p.E409Q	RP11-505K9.4_ENST00000561562.1_Intron|RP11-505K9.4_ENST00000566309.1_Intron	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	409	Catalytic domain.				acetyl-CoA biosynthetic process (GO:0006085)|cellular lipid metabolic process (GO:0044255)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA catabolic process (GO:2001294)|positive regulation of fatty acid oxidation (GO:0046321)|regulation of glucose metabolic process (GO:0010906)|response to ischemia (GO:0002931)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	malonyl-CoA decarboxylase activity (GO:0050080)|receptor binding (GO:0005102)			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						CCTGTATGGAGAGAAGCACCG	0.647																																						ENST00000262430.4																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						c.(1225-1227)Gag>Cag		malonyl-CoA decarboxylase							51	58	56					16																	83948837		2120	4236	6356	SO:0001583	missense	23417				acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity	g.chr16:83948837G>C	AF153679	CCDS42206.1	16q24	2009-02-04				ENSG00000103150			7150	protein-coding gene	gene with protein product		606761				10455107, 9869665	Standard	NM_012213		Approved	MCD, hMCD	uc002fgz.3	O95822		ENST00000262430.4:c.1225G>C	16.37:g.83948837G>C	ENSP00000262430:p.Glu409Gln					RP11-505K9.4_ENST00000561562.1_RNA	p.E409Q	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN			5	1244	+			409					Q9UNU5|Q9Y3F2	Missense_Mutation	SNP	ENST00000262430.4	37	c.1225G>C	CCDS42206.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550272	0.86127	.	.	ENSG00000103150	ENST00000262430	D	0.91740	-2.9	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.97099	0.9052	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98124	1.0427	10	0.72032	D	0.01	-41.3279	17.2055	0.86916	0.0:0.0:1.0:0.0	.	409	O95822	DCMC_HUMAN	Q	409	ENSP00000262430:E409Q	ENSP00000262430:E409Q	E	+	1	0	MLYCD	82506338	1.000000	0.71417	0.942000	0.38095	0.824000	0.46624	7.419000	0.80179	2.387000	0.81309	0.511000	0.50034	GAG		0.647	MLYCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433009.1	NM_012213		45	44	0	0	0	1	0	45	44					C	83948837	G	C	83948837	3	2	45	1	0	0	0	0	1	0	0	0	9638	943	33	4	1243	4	MLYCD	16	83948837	Missense_Mutation	SNP	G	TCGA-BJ-A4O9-01A-11D-A257-08		83948837	6405916	18	1119											
ARID3A	1820	broad.mit.edu	37	chr19	929821	929821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacgcggcccgggaggggaCaccgggctcacccgggcgag	20	14	1	0			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr19:929821C>T	ENST00000263620.3	+	2	620	c.293C>T	c.(292-294)aCa>aTa	p.T98I	AC005391.2_ENST00000585647.1_RNA	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	98	Glu-rich.					cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		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)		CGGGAGGGGACACCGGGCTCA	0.721																																					Pancreas(29;54 1022 32760 50921)	ENST00000263620.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10						c.(292-294)aCa>aTa		AT rich interactive domain 3A (BRIGHT-like)							10	15	13					19																	929821		1986	3955	5941	SO:0001583	missense	1820					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:929821C>T	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"-"	3031	protein-coding gene	gene with protein product		603265	"dead ringer-like 1 (Drosophila)", "AT rich interactive domain 3A (BRIGHT- like)"	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.293C>T	19.37:g.929821C>T	ENSP00000263620:p.Thr98Ile						p.T98I	NM_005224.2	NP_005215.1	Q99856	ARI3A_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)	2	620	+		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)	98			Glu-rich.		Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Missense_Mutation	SNP	ENST00000263620.3	37	c.293C>T	CCDS12050.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.651000	0.29336	.	.	ENSG00000116017	ENST00000263620	T	0.38560	1.13	3.33	1.11	0.20524	.	4.873430	0.01066	N	0.004720	T	0.28830	0.0715	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.14062	-1.0486	10	0.39692	T	0.17	-5.1549	3.9578	0.09398	0.4169:0.4618:0.0:0.1213	.	98	Q99856	ARI3A_HUMAN	I	98	ENSP00000263620:T98I	ENSP00000263620:T98I	T	+	2	0	ARID3A	880821	.	.	0.001000	0.08648	0.030000	0.12068	.	.	0.135000	0.18707	-0.339000	0.08088	ACA		0.721	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		2	0	0	0	0	1	0	2	0					T	929821	C	T	929821	3	4	45	1	0	0	0	0	1	0	0	0	916	478	17	2	295	2	ARID3A	19	929821	Missense_Mutation	SNP	C	TCGA-BJ-A4O9-01A-11D-A257-08		929821	58199162	19	1120											
HSH2D	84941	broad.mit.edu	37	chr19	16268601	16268601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctttgcccctgggtactGctagagaacaggtccaccct	9	15	0	1			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr19:16268601G>A	ENST00000253680.6	+	9	1586	c.1055G>A	c.(1054-1056)tGc>tAc	p.C352Y	HSH2D_ENST00000397372.4_Missense_Mutation_p.C262Y|HSH2D_ENST00000593154.2_3'UTR|HSH2D_ENST00000588246.1_3'UTR			Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	352					negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of mitochondrial depolarization (GO:0051902)|positive regulation of signal transduction (GO:0009967)|T cell activation (GO:0042110)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						CCTGGGTACTGCTAGAGAACA	0.612																																						ENST00000253680.6																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						c.(1054-1056)tGc>tAc		hematopoietic SH2 domain containing							21	25	24					19																	16268601		1951	4146	6097	SO:0001583	missense	84941					cytoplasm|nucleus		g.chr19:16268601G>A	AK027792	CCDS74304.1	19p13.12	2013-02-14				ENSG00000196684		"SH2 domain containing"	24920	protein-coding gene	gene with protein product		608349				11700021	Standard	NM_032855		Approved	ALX, HSH2, FLJ14886	uc002ndp.4	Q96JZ2		ENST00000253680.6:c.1055G>A	19.37:g.16268601G>A	ENSP00000253680:p.Cys352Tyr					HSH2D_ENST00000588246.1_3'UTR|HSH2D_ENST00000397372.4_Missense_Mutation_p.C262Y|HSH2D_ENST00000593154.2_3'UTR	p.C352Y			Q96JZ2	HSH2D_HUMAN			9	1586	+			352					B5ME72|Q6ZNG7	Missense_Mutation	SNP	ENST00000253680.6	37	c.1055G>A		.	.	.	.	.	.	.	.	.	.	G	12.42	1.932920	0.34096	.	.	ENSG00000196684	ENST00000397372;ENST00000253680	T	0.58358	0.34	3.5	2.4	0.29515	.	0.000000	0.34580	N	0.003848	T	0.61085	0.2319	.	.	.	0.27857	N	0.940535	D	0.62365	0.991	P	0.58577	0.841	T	0.55121	-0.8190	9	0.87932	D	0	.	7.866	0.29537	0.0:0.0:0.7533:0.2467	.	352	Q96JZ2	HSH2D_HUMAN	Y	262;352	ENSP00000253680:C352Y	ENSP00000253680:C352Y	C	+	2	0	HSH2D	16129601	1.000000	0.71417	0.996000	0.52242	0.303000	0.27691	1.763000	0.38461	0.982000	0.38575	0.462000	0.41574	TGC		0.612	HSH2D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032855		7	4	0	0	0	1	0	7	4					A	16268601	G	A	16268601	3	1	45	1	0	0	0	0	1	0	0	0	7400	1306	46	2	1074	2	HSH2D	19	16268601	Missense_Mutation	SNP	G	TCGA-BJ-A4O9-01A-11D-A257-08	15338780	16268601	42860382	20	1121											
CCDC114	93233	broad.mit.edu	37	chr19	48807367	48807367	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctttctccgcgcgctcccgCagcaagcccatcttggcctt	8	18	3	0	rs28582401	byFrequency	TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr19:48807367C>A	ENST00000315396.7	-	7	1267	c.585G>T	c.(583-585)ctG>ctT	p.L195L		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	195					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		CGCGCTCCCGCAGCAAGCCCA	0.682													C|||	771	0.153954	0.1422	0.0965	5008	,	,		15049	0.124		0.1988	False		,,,				2504	0.1953					ENST00000315396.7																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24						c.(583-585)ctG>ctT		coiled-coil domain containing 114		C		744,3662	296.7+/-284.4	66,612,1525	43	43	43		585	-0.5	1.0	19	dbSNP_125	43	1589,7011	285.2+/-297.1	159,1271,2870	no	coding-synonymous	CCDC114	NM_144577.3		225,1883,4395	AA,AC,CC		18.4767,16.8861,17.9379		195/671	48807367	2333,10673	2203	4300	6503	SO:0001819	synonymous_variant	93233							g.chr19:48807367C>A	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.585G>T	19.37:g.48807367C>A							p.L195L	NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)	7	1267	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	195					Q6ZRL4|Q96M06|Q9UFG8	Silent	SNP	ENST00000315396.7	37	c.585G>T	CCDS12714.2																																																																																				0.682	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		5	57	1	0	3.59834e-05	1	3.87513e-05	5	57					A	48807367	C	A	48807367	2	1	45	1	0	0	0	0	0	0	0	1	2751	697	25	4		4	CCDC114	19	48807367	Silent	SNP	C	TCGA-BJ-A4O9-01A-11D-A257-08	32538766	48807367	10321616	21	1122											
SHANK1	50944	broad.mit.edu	37	chr19	51207039	51207039	+	Frame_Shift_Del	DEL	G	G	-													gcaccgtcagccctgtgcctGggggcccccgtcgccgggcc							TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr19:51207039delG	ENST00000293441.1	-	10	1289	c.1271delC	c.(1270-1272)ccafs	p.P424fs	SHANK1_ENST00000391814.1_Frame_Shift_Del_p.P424fs|SHANK1_ENST00000359082.3_Frame_Shift_Del_p.P424fs	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	424					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)		CCCTGTGCCTGGGGGCCCCCG	0.721																																						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.(1270-1272)cafs		SH3 and multiple ankyrin repeat domains 1							2	3	3					19																	51207039		1490	3219	4709	SO:0001589	frameshift_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51207039delG	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.1271delC	19.37:g.51207039delG	ENSP00000293441:p.Pro424fs					SHANK1_ENST00000391814.1_Frame_Shift_Del_p.P424fs|SHANK1_ENST00000359082.3_Frame_Shift_Del_p.P424fs	p.P424fs	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	10	1289	-		all_neural(266;0.057)	424					A8MXP5|B7WNY6|Q9NYW9	Frame_Shift_Del	DEL	ENST00000293441.1	37	c.1271delC	CCDS12799.1																																																																																				0.721	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		2	4						2	4	---	---	---	---	-	51207039	G	-	51207039	7	5	45	1	0	1	0	1	0	0	0	0	14264	1348	47	0	5270	0	SHANK1	19	51207039	Frame_Shift_Del	DEL	G	TCGA-BJ-A4O9-01A-11D-A257-08	2399672	51207039	7921944	22	1123											
CHD6	84181	broad.mit.edu	37	chr20	40033972	40033972	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatcccagcaatcagtccaTtcatgaacagtggccccatt	6	15	2	1			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr20:40033972T>C	ENST00000373233.3	-	37	7586	c.7409A>G	c.(7408-7410)aAt>aGt	p.N2470S	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2470					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AATCAGTCCATTCATGAACAG	0.607																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(7408-7410)aAt>aGt		chromodomain helicase DNA binding protein 6							72	69	70					20																	40033972		2203	4300	6503	SO:0001583	missense	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40033972T>C	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.7409A>G	20.37:g.40033972T>C	ENSP00000362330:p.Asn2470Ser					CHD6_ENST00000480022.1_5'UTR	p.N2470S	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			37	7586	-		Myeloproliferative disorder(115;0.00425)	2470					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.7409A>G	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	T	18.50	3.636731	0.67130	.	.	ENSG00000124177	ENST00000373233	D	0.93307	-3.2	5.65	5.65	0.86999	.	0.179093	0.39759	N	0.001273	D	0.93874	0.8040	M	0.74647	2.275	0.80722	D	1	D	0.62365	0.991	P	0.46659	0.523	D	0.94516	0.7723	10	0.72032	D	0.01	-28.0061	16.0399	0.80667	0.0:0.0:0.0:1.0	.	2470	Q8TD26	CHD6_HUMAN	S	2470	ENSP00000362330:N2470S	ENSP00000362330:N2470S	N	-	2	0	CHD6	39467386	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	6.019000	0.70818	2.371000	0.80710	0.533000	0.62120	AAT		0.607	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			29	28	0	0	0	1	0	29	28					C	40033972	T	C	40033972	3	2	45	1	0	0	0	0	1	0	0	0	3329	1493	52	3	742	3	CHD6	20	40033972	Missense_Mutation	SNP	T	TCGA-BJ-A4O9-01A-11D-A257-08		40033972	22991548	23	1124											
ZFX	7543	broad.mit.edu	37	chrX	24226355	24226355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgttgctgaaatcgctgacGaagtttatatggaagtgatc	11	5	0	3			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chrX:24226355G>A	ENST00000379177.1	+	9	1388	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	ZFX_ENST00000539115.1_Missense_Mutation_p.E92K|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000304543.5_Missense_Mutation_p.E321K|ZFX_ENST00000540034.1_Missense_Mutation_p.E360K|ZFX_ENST00000338565.3_Missense_Mutation_p.E271K|ZFX_ENST00000379188.3_Missense_Mutation_p.E321K	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	321					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						AATCGCTGACGAAGTTTATAT	0.438																																					Esophageal Squamous(20;306 562 7346 32868 37983)	ENST00000379177.1																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						c.(961-963)Gaa>Aaa		zinc finger protein, X-linked							53	52	52					X																	24226355		2203	4300	6503	SO:0001583	missense	7543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chrX:24226355G>A		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"Zinc fingers, C2H2-type"	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.961G>A	X.37:g.24226355G>A	ENSP00000368475:p.Glu321Lys					ZFX_ENST00000304543.5_Missense_Mutation_p.E321K|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000539115.1_Missense_Mutation_p.E92K|ZFX_ENST00000540034.1_Missense_Mutation_p.E360K|ZFX_ENST00000338565.3_Missense_Mutation_p.E271K|ZFX_ENST00000379188.3_Missense_Mutation_p.E321K	p.E321K	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN			9	1388	+			321					B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP	ENST00000379177.1	37	c.961G>A	CCDS14211.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602405	0.87157	.	.	ENSG00000005889	ENST00000539115;ENST00000379188;ENST00000535562;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565;ENST00000545937	T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82	5.53	5.53	0.82687	Transcriptional activator, Zfx / Zfy domain (1);	0.000000	0.64402	D	0.000002	T	0.66839	0.2830	L	0.58810	1.83	0.80722	D	1	D;B;D;D	0.89917	0.997;0.165;0.996;1.0	P;B;D;D	0.81914	0.887;0.023;0.983;0.995	T	0.67554	-0.5641	10	0.56958	D	0.05	-0.3797	18.7183	0.91684	0.0:0.0:1.0:0.0	.	360;90;321;325	B9EG97;F5GYV7;P17010;Q59EB9	.;.;ZFX_HUMAN;.	K	92;321;90;321;321;360;271;116	ENSP00000438233:E92K;ENSP00000368486:E321K;ENSP00000368475:E321K;ENSP00000304985:E321K;ENSP00000441382:E360K;ENSP00000343384:E271K	ENSP00000304985:E321K	E	+	1	0	ZFX	24136276	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.320000	0.79064	2.452000	0.82932	0.600000	0.82982	GAA		0.438	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		27	30	0	0	0	1	0	27	30					A	24226355	G	A	24226355	3	1	45	1	0	0	0	0	1	0	0	0	17658	1059	37	1	979	1	ZFX	23	24226355	Missense_Mutation	SNP	G	TCGA-BJ-A4O9-01A-11D-A257-08		24226355	131044205	24	1125											
FTHL17	53940	broad.mit.edu	37	chrX	31089693	31089693	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtggcacagctgggggtcGcccttctccacggccagctg	14	14	1	0			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chrX:31089693G>A	ENST00000359202.3	-	1	477	c.378C>T	c.(376-378)ggC>ggT	p.G126G		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	126	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						GCTGGGGGTCGCCCTTCTCCA	0.607																																						ENST00000359202.3																			0				endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						c.(376-378)ggC>ggT		ferritin, heavy polypeptide-like 17							75	60	65					X																	31089693		2202	4300	6502	SO:0001819	synonymous_variant	53940				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	g.chrX:31089693G>A	AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446			3987	protein-coding gene	gene with protein product	"cancer/testis antigen 38"	300308				11279525	Standard	NM_031894		Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.378C>T	X.37:g.31089693G>A							p.G126G	NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN			1	477	-			126			Ferritin-like diiron.		Q6NT24|Q6NTE2	Silent	SNP	ENST00000359202.3	37	c.378C>T	CCDS14227.1																																																																																				0.607	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056178.1	NM_031894		27	40	0	0	0	1	0	27	40					A	31089693	G	A	31089693	2	1	45	1	0	0	0	0	0	0	0	1	6083	1074	38	1		1	FTHL17	23	31089693	Silent	SNP	G	TCGA-BJ-A4O9-01A-11D-A257-08	6863338	31089693	124180867	25	1126											
HCFC1	3054	broad.mit.edu	37	chrX	153229727	153229727	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgagtctcttccactcccaCcggctcgcctgcaaaatcaa	6	16	2	1	rs202217162		TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chrX:153229727C>T	ENST00000310441.7	-	3	1317	c.351G>A	c.(349-351)cgG>cgA	p.R117R	HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000354233.3_Silent_p.R117R|HCFC1_ENST00000369984.4_Silent_p.R117R	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	117					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)					TCCACTCCCACCGGCTCGCCT	0.597																																						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.(349-351)cgG>cgA		host cell factor C1 (VP16-accessory protein)							114	119	117					X																	153229727		1933	4112	6045	SO:0001819	synonymous_variant	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:153229727C>T		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.351G>A	X.37:g.153229727C>T						HCFC1_ENST00000354233.3_Silent_p.R117R|HCFC1_ENST00000369984.4_Silent_p.R117R	p.R117R	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			3	1317	-	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)		117					Q6P4G5	Silent	SNP	ENST00000310441.7	37	c.351G>A	CCDS44020.1																																																																																				0.597	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		6	117	0	0	0	1	0	6	117					T	153229727	C	T	153229727	2	4	45	1	0	0	0	0	0	0	0	1	6991	494	18	2		2	HCFC1	23	153229727	Silent	SNP	C	TCGA-BJ-A4O9-01A-11D-A257-08	122140034	153229727	2040833	26	1127											
MAGI3	260425	broad.mit.edu	37	chr1	114201721	114201721	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttattcctcataaaattggCcgagtcatagaaggaagtcc	9	8	2	1			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr1:114201721C>T	ENST00000307546.9	+	16	2724	c.2649C>T	c.(2647-2649)ggC>ggT	p.G883G	MAGI3_ENST00000369615.1_Silent_p.G883G|MAGI3_ENST00000369611.4_Silent_p.G883G|MAGI3_ENST00000369617.4_Silent_p.G908G	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	908	Interaction with LPAR2 and GRIN2B.|PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-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)		ATAAAATTGGCCGAGTCATAG	0.378																																						ENST00000369615.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(2647-2649)ggC>ggT		membrane associated guanylate kinase, WW and PDZ domain containing 3							94	98	97					1																	114201721		2203	4300	6503	SO:0001819	synonymous_variant	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114201721C>T	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.2649C>T	1.37:g.114201721C>T						MAGI3_ENST00000369617.4_Silent_p.G908G|MAGI3_ENST00000307546.9_Silent_p.G883G|MAGI3_ENST00000369611.4_Silent_p.G883G	p.G883G	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_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)	16	2711	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	908			Interaction with LPAR2 and GRIN2B.|PDZ 5.		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Silent	SNP	ENST00000307546.9	37	c.2649C>T	CCDS44196.1																																																																																				0.378	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		4	145	0	0	0	0.150653	0	4	145					T	114201721	C	T	114201721	2	4	46	1	0	0	0	0	0	0	0	1	9192	726	26	2		2	MAGI3	1	114201721	Silent	SNP	C	TCGA-CE-A13K-01A-11D-A10S-08		114201721	135048900	1	1128											
COL4A3	1285	broad.mit.edu	37	chr2	228102726	228102726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagtgcttctgtgacgggGccaaaggggagaaggtaaaa	16	7	1	2			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr2:228102726G>A	ENST00000396578.3	+	2	292	c.130G>A	c.(130-132)Gcc>Acc	p.A44T	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000606119.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	44	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CTGTGACGGGGCCAAAGGGGA	0.428																																						ENST00000396578.3																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(130-132)Gcc>Acc		collagen, type IV, alpha 3 (Goodpasture antigen)							178	171	173					2																	228102726		1851	4083	5934	SO:0001583	missense	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228102726G>A		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.130G>A	2.37:g.228102726G>A	ENSP00000379823:p.Ala44Thr					AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000439598.2_RNA	p.A44T	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	2	292	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	44			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	c.130G>A	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.440075	0.25900	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.93659	-3.26	5.36	-10.7	0.00240	.	1.302570	0.05129	N	0.492311	D	0.82912	0.5140	N	0.25647	0.755	0.09310	N	1	B;B;B;B	0.26363	0.0;0.0;0.147;0.145	B;B;B;B	0.27076	0.001;0.001;0.062;0.076	T	0.70357	-0.4894	10	0.12766	T	0.61	.	5.1695	0.15103	0.282:0.1119:0.4965:0.1097	.	44;44;44;44	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	T	44	ENSP00000379823:A44T	ENSP00000323334:A44T	A	+	1	0	COL4A3	227810970	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.822000	0.04448	-2.405000	0.00575	-0.218000	0.12543	GCC		0.428	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		5	291	0	0	0	0.021553	0	5	291					A	228102726	G	A	228102726	3	1	46	1	0	0	0	0	1	0	0	0	3691	1203	42	2	136	2	COL4A3	2	228102726	Missense_Mutation	SNP	G	TCGA-CE-A13K-01A-11D-A10S-08		228102726	15096647	2	1129											
VILL	50853	broad.mit.edu	37	chr3	38039042	38039042	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgcacagattggtgtggtGgatgatgaggccaaagcccc	15	9	0	3			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr3:38039042G>A	ENST00000283713.6	+	7	896	c.630G>A	c.(628-630)gtG>gtA	p.V210V	VILL_ENST00000383759.2_Silent_p.V210V|VILL_ENST00000465644.1_Intron			O15195	VILL_HUMAN	villin-like	210					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TTGGTGTGGTGGATGATGAGG	0.642																																						ENST00000283713.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28						c.(628-630)gtG>gtA		villin-like							107	95	99					3																	38039042		2203	4300	6503	SO:0001819	synonymous_variant	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38039042G>A		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.630G>A	3.37:g.38039042G>A						VILL_ENST00000383759.2_Silent_p.V210V|VILL_ENST00000465644.1_Intron	p.V210V			O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	7	896	+			210					A8MZP1|Q9BT80|Q9BWH7	Silent	SNP	ENST00000283713.6	37	c.630G>A	CCDS2670.2																																																																																				0.642	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		3	65	0	0	0	0.150653	0	3	65					A	38039042	G	A	38039042	2	1	46	1	0	0	0	0	0	0	0	1	17162	1335	47	2		2	VILL	3	38039042	Silent	SNP	G	TCGA-CE-A13K-01A-11D-A10S-08		38039042	159983388	3	1130											
PAPSS1	9061	broad.mit.edu	37	chr4	108566109	108566109	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgtccagccacccagagggTggaggaggaggacagggcgc	18	10	0	1			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr4:108566109T>A	ENST00000265174.4	-	10	1627	c.1355A>T	c.(1354-1356)cAc>cTc	p.H452L		NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	452					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		ACCCAGAGGGTGGAGGAGGAG	0.542																																						ENST00000265174.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16						c.(1354-1356)cAc>cTc		3'-phosphoadenosine 5'-phosphosulfate synthase 1							102	98	99					4																	108566109		2203	4300	6503	SO:0001583	missense	9061				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity	g.chr4:108566109T>A	Y10387	CCDS3676.1	4q24	2012-07-13			ENSG00000138801	ENSG00000138801	2.7.7.4, 2.7.1.25		8603	protein-coding gene	gene with protein product		603262				9576487, 9771708	Standard	NM_005443		Approved	ATPSK1, PAPSS	uc003hyk.3	O43252	OTTHUMG00000131210	ENST00000265174.4:c.1355A>T	4.37:g.108566109T>A	ENSP00000265174:p.His452Leu						p.H452L	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)	10	1627	-		Hepatocellular(203;0.217)	452					O43841|O75332|Q96FB1|Q96TF4|Q9P1P9|Q9UE98	Missense_Mutation	SNP	ENST00000265174.4	37	c.1355A>T	CCDS3676.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.710232	0.89018	.	.	ENSG00000138801	ENST00000265174	T	0.33865	1.39	5.22	5.22	0.72569	Sulphate adenylyltransferase (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.74966	0.3786	H	0.98818	4.34	0.80722	D	1	D	0.61080	0.989	D	0.68192	0.956	D	0.85959	0.1469	10	0.87932	D	0	-26.6538	15.1269	0.72489	0.0:0.0:0.0:1.0	.	452	O43252	PAPS1_HUMAN	L	452	ENSP00000265174:H452L	ENSP00000265174:H452L	H	-	2	0	PAPSS1	108785558	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	7.522000	0.81844	1.972000	0.57404	0.377000	0.23210	CAC		0.542	PAPSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253946.2			12	109	0	0	0	0.09319	0	12	109					A	108566109	T	A	108566109	3	1	46	1	0	0	0	0	1	0	0	0	11434	1696	59	5	531	5	PAPSS1	4	108566109	Missense_Mutation	SNP	T	TCGA-CE-A13K-01A-11D-A10S-08		108566109	82588167	4	1131											
TRIML1	339976	broad.mit.edu	37	chr4	189068316	189068316	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacctttgaaaggtcagcaCgtcagagagcctgtgtgtaa	11	9	3	2			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr4:189068316C>T	ENST00000332517.3	+	6	1337	c.1197C>T	c.(1195-1197)caC>caT	p.H399H	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	399	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.H399Q(3)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AAGGTCAGCACGTCAGAGAGC	0.488																																					Melanoma(31;213 1036 16579 23968 32372)	ENST00000332517.3																			3	Substitution - Missense(3)	p.H399Q(3)	lung(3)	NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(1195-1197)caC>caT		tripartite motif family-like 1							153	137	142					4																	189068316		2203	4300	6503	SO:0001819	synonymous_variant	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189068316C>T	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"RING-type (C3HC4) zinc fingers"	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.1197C>T	4.37:g.189068316C>T						TRIML1_ENST00000507581.1_3'UTR	p.H399H	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	6	1337	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	399			B30.2/SPRY.		Q96BE5	Silent	SNP	ENST00000332517.3	37	c.1197C>T	CCDS3851.1																																																																																				0.488	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		81	109	0	0	0	0.139131	0	81	109					T	189068316	C	T	189068316	2	4	46	1	0	0	0	0	0	0	0	1	16547	535	19	1		1	TRIML1	4	189068316	Silent	SNP	C	TCGA-CE-A13K-01A-11D-A10S-08	80502207	189068316	2085960	5	1132											
PCDHGA2	56113	broad.mit.edu	37	chr5	140719281	140719281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttacacagcccgagtaccGcataagcattccggagaata	8	11	0	1			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr5:140719281G>A	ENST00000394576.2	+	1	743	c.743G>A	c.(742-744)cGc>cAc	p.R248H	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	248	Cadherin 3. {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)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGAGTACCGCATAAGCATT	0.557																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(742-744)cGc>cAc									77	78	77					5																	140719281		2203	4300	6503	SO:0001583	missense	0							g.chr5:140719281G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.743G>A	5.37:g.140719281G>A	ENSP00000378077:p.Arg248His					PCDHGA1_ENST00000517417.1_Intron	p.R248H	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	743	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.743G>A	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	5.530	0.282755	0.10458	.	.	ENSG00000081853	ENST00000394576	T	0.01767	4.65	5.26	0.19	0.15125	Cadherin (4);Cadherin-like (1);	1.220540	0.06134	N	0.671214	T	0.02688	0.0081	L	0.58925	1.835	0.09310	N	1	B;B	0.24426	0.059;0.103	B;B	0.26969	0.021;0.075	T	0.46386	-0.9195	10	0.40728	T	0.16	.	5.2025	0.15273	0.4645:0.2358:0.2997:0.0	.	248;248	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	H	248	ENSP00000378077:R248H	ENSP00000378077:R248H	R	+	2	0	PCDHGA2	140699465	0.000000	0.05858	0.992000	0.48379	0.024000	0.10985	-1.264000	0.02847	0.325000	0.23359	-0.140000	0.14226	CGC		0.557	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		4	146	0	0	0	0.150653	0	4	146					A	140719281	G	A	140719281	3	1	46	1	0	0	0	0	1	0	0	0	11554	1087	38	1	745	1	PCDHGA2	5	140719281	Missense_Mutation	SNP	G	TCGA-CE-A13K-01A-11D-A10S-08		140719281	40195979	6	1133											
PCDHGA3	56112	broad.mit.edu	37	chr5	140724389	140724389	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggtacccggctgctcacGgtgaatgccactgaccctga	13	13	1	3			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr5:140724389G>A	ENST00000253812.6	+	1	789	c.789G>A	c.(787-789)acG>acA	p.T263T	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	263	Cadherin 3. {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)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTGCTCACGGTGAATGCCA	0.478																																						ENST00000253812.6																			0				breast(1)	1						c.(787-789)acG>acA									58	60	60					5																	140724389		2088	4243	6331	SO:0001819	synonymous_variant	0							g.chr5:140724389G>A	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"Cadherins / Protocadherins : Clustered"	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.789G>A	5.37:g.140724389G>A						PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.T263T	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	789	+								Q9Y5D4	Silent	SNP	ENST00000253812.6	37	c.789G>A	CCDS47290.1																																																																																				0.478	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		35	52	0	0	0	0.064281	0	35	52					A	140724389	G	A	140724389	2	1	46	1	0	0	0	0	0	0	0	1	11555	1103	39	1		1	PCDHGA3	5	140724389	Silent	SNP	G	TCGA-CE-A13K-01A-11D-A10S-08	5108	140724389	40190871	7	1134											
BAT2	7916	broad.mit.edu	37	chr6	31595798	31595798	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgccccacctgctgccccttCtaccccagctccaccacctg	5	23	1	0			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr6:31595798C>G	ENST00000376033.2	+	12	1781	c.1547C>G	c.(1546-1548)tCt>tGt	p.S516C	PRRC2A_ENST00000376007.4_Missense_Mutation_p.S516C	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	516	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GCTGCCCCTTCTACCCCAGCT	0.602																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(1546-1548)tCt>tGt		proline-rich coiled-coil 2A							131	127	128					6																	31595798		1511	2709	4220	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31595798C>G	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.1547C>G	6.37:g.31595798C>G	ENSP00000365201:p.Ser516Cys					PRRC2A_ENST00000376007.4_Missense_Mutation_p.S516C	p.S516C	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			12	1781	+			516			2 X type B repeats.|4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.1547C>G	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287336	0.23478	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033	T;T	0.08370	3.1;3.1	4.38	4.38	0.52667	.	0.301266	0.24063	N	0.041882	T	0.02047	0.0064	N	0.08118	0	0.29312	N	0.867938	B	0.25955	0.138	B	0.24541	0.054	T	0.40040	-0.9584	10	0.87932	D	0	0.0336	14.3081	0.66397	0.0:1.0:0.0:0.0	.	516	P48634	PRC2A_HUMAN	C	516;505;516;516	ENSP00000365175:S516C;ENSP00000365201:S516C	ENSP00000365175:S516C	S	+	2	0	PRRC2A	31703777	0.584000	0.26766	0.996000	0.52242	0.913000	0.54294	2.706000	0.47135	2.453000	0.82957	0.561000	0.74099	TCT		0.602	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		82	186	0	0	0	0.139131	0	82	186					G	31595798	C	G	31595798	3	3	46	1	0	0	0	0	1	0	0	0	1319	913	32	4	1589	4	BAT2	6	31595798	Missense_Mutation	SNP	C	TCGA-CE-A13K-01A-11D-A10S-08		31595798	139519269	8	1135											
EHMT2	10919	broad.mit.edu	37	chr6	31847931	31847931	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgggtccaggcgggccagaCggctctgctccagggcaatg	17	12	1	1	rs547088463		TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr6:31847931C>A	ENST00000375537.4	-	28	3569	c.3563G>T	c.(3562-3564)cGt>cTt	p.R1188L	SLC44A4_ENST00000465707.1_5'Flank|EHMT2_ENST00000375530.4_Missense_Mutation_p.R1154L|SLC44A4_ENST00000544672.1_5'Flank|SLC44A4_ENST00000229729.6_5'Flank|EHMT2_ENST00000375528.4_Missense_Mutation_p.R1211L|EHMT2_ENST00000395728.3_Missense_Mutation_p.R1245L|EHMT2_ENST00000480912.1_5'UTR|SLC44A4_ENST00000375562.4_5'Flank	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1188					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GCGGGCCAGACGGCTCTGCTC	0.612																																						ENST00000395728.3																			0				central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						c.(3733-3735)cGt>cTt		euchromatic histone-lysine N-methyltransferase 2							55	50	52					6																	31847931		1510	2709	4219	SO:0001583	missense	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31847931C>A	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	14129	protein-coding gene	gene with protein product		604599	"chromosome 6 open reading frame 30", "HLA-B associated transcript 8"	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.3563G>T	6.37:g.31847931C>A	ENSP00000364687:p.Arg1188Leu					EHMT2_ENST00000375528.4_Missense_Mutation_p.R1211L|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Missense_Mutation_p.R1154L|EHMT2_ENST00000375537.4_Missense_Mutation_p.R1188L	p.R1245L			Q96KQ7	EHMT2_HUMAN			27	3733	-			1188					B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	c.3734G>T	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.998547	0.93227	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.70631	-0.5;-0.42;-0.36;-0.49	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.57710	0.2072	L	0.44542	1.39	0.80722	D	1	P;P;D;D	0.58620	0.913;0.948;0.983;0.97	B;P;B;P	0.44447	0.166;0.449;0.314;0.45	T	0.64571	-0.6376	10	0.52906	T	0.07	.	16.5388	0.84380	0.0:1.0:0.0:0.0	.	1211;1154;1188;1009	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	L	1245;1211;1154;1188;1009	ENSP00000379078:R1245L;ENSP00000364678:R1211L;ENSP00000364680:R1154L;ENSP00000364687:R1188L	ENSP00000364678:R1211L	R	-	2	0	EHMT2	31955910	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.623000	0.54224	2.278000	0.76064	0.561000	0.74099	CGT		0.612	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		3	45	1	0	0.004672	0.115264	0.00577853	3	45					A	31847931	C	A	31847931	3	1	46	1	0	0	0	0	1	0	0	0	4984	536	19	4	73	4	EHMT2	6	31847931	Missense_Mutation	SNP	C	TCGA-CE-A13K-01A-11D-A10S-08	252133	31847931	139267136	9	1136											
DNAH8	1769	broad.mit.edu	37	chr6	38957817	38957817	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgagaagatgtttgaaccGtcattctgcttttatactgg	10	6	2	3	rs143472136	byFrequency	TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr6:38957817G>A	ENST00000359357.3	+	86	12686	c.12432G>A	c.(12430-12432)ccG>ccA	p.P4144P	DNAH8_ENST00000441566.1_Silent_p.P4108P			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4144					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						TGTTTGAACCGTCATTCTGCT	0.368																																						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.(12430-12432)ccG>ccA		dynein, axonemal, heavy chain 8		G		2,4404	4.2+/-10.8	0,2,2201	155	146	149		13083	-5.6	0.4	6	dbSNP_134	149	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DNAH8	NM_001206927.1		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		4361/4708	38957817	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38957817G>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.12432G>A	6.37:g.38957817G>A						DNAH8_ENST00000441566.1_Silent_p.P4108P	p.P4144P							86	12686	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.12432G>A																																																																																					0.368	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		5	195	0	0	0	0.021553	0	5	195					A	38957817	G	A	38957817	2	1	46	1	0	0	0	0	0	0	0	1	4607	1132	40	1		1	DNAH8	6	38957817	Silent	SNP	G	TCGA-CE-A13K-01A-11D-A10S-08	7109886	38957817	132157250	10	1137											
ABCC10	89845	broad.mit.edu	37	chr6	43400167	43400167	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctccagccctagtgctgaCcgtgttgtggcattgccagc	12	13	0	1			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr6:43400167C>A	ENST00000372530.4	+	3	664	c.449C>A	c.(448-450)aCc>aAc	p.T150N	ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000244533.3_Missense_Mutation_p.T107N	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	150					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)	CTAGTGCTGACCGTGTTGTGG	0.647																																						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.(319-321)aCc>aAc		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							63	61	62					6																	43400167		2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43400167C>A	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.449C>A	6.37:g.43400167C>A	ENSP00000361608:p.Thr150Asn					ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000372530.4_Missense_Mutation_p.T150N	p.T107N	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	679	+	all_lung(25;0.00536)		150					Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.320C>A	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.034684	0.54896	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	T;T	0.51325	0.71;0.71	5.94	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.19765	0.0475	N	0.24115	0.695	0.42806	D	0.99394	B;B	0.18863	0.031;0.018	B;B	0.19666	0.026;0.012	T	0.05632	-1.0873	10	0.21014	T	0.42	-45.0256	16.4819	0.84160	0.1322:0.8678:0.0:0.0	.	107;150	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	N	150;107	ENSP00000361608:T150N;ENSP00000244533:T107N	ENSP00000244533:T107N	T	+	2	0	ABCC10	43508145	0.996000	0.38824	0.604000	0.28916	0.725000	0.41563	3.409000	0.52657	1.503000	0.48686	0.561000	0.74099	ACC		0.647	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		5	138	1	0	0.014758	0.014758	0.0177853	5	138					A	43400167	C	A	43400167	3	1	46	1	0	0	0	0	1	0	0	0	50	507	18	4	322	4	ABCC10	6	43400167	Missense_Mutation	SNP	C	TCGA-CE-A13K-01A-11D-A10S-08	4442350	43400167	127714900	11	1138											
SLC29A1	2030	broad.mit.edu	37	chr6	44197517	44197517	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcacctacctcaactccttCctgcatcagaggtgagtgcc	7	15	3	2			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr6:44197517C>T	ENST00000393841.1	+	5	794	c.303C>T	c.(301-303)ttC>ttT	p.F101F	SLC29A1_ENST00000371724.1_Silent_p.F101F|SLC29A1_ENST00000371713.1_Silent_p.F101F|SLC29A1_ENST00000371740.5_Silent_p.F101F|SLC29A1_ENST00000371708.1_Silent_p.F101F|SLC29A1_ENST00000371755.3_Silent_p.F101F|SLC29A1_ENST00000427851.2_Silent_p.F101F|SLC29A1_ENST00000393844.1_Silent_p.F101F|SLC29A1_ENST00000313248.7_Silent_p.F180F|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371731.1_Silent_p.F101F	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	101					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	TCAACTCCTTCCTGCATCAGA	0.592																																						ENST00000393841.1																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17						c.(301-303)ttC>ttT		solute carrier family 29 (equilibrative nucleoside transporter), member 1	Troglitazone(DB00197)						122	112	116					6																	44197517		2203	4300	6503	SO:0001819	synonymous_variant	2030				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding	g.chr6:44197517C>T	U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"Solute carriers"	11003	protein-coding gene	gene with protein product		602193	"solute carrier family 29 (nucleoside transporters), member 1"	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.303C>T	6.37:g.44197517C>T						SLC29A1_ENST00000371731.1_Silent_p.F101F|SLC29A1_ENST00000393844.1_Silent_p.F101F|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371708.1_Silent_p.F101F|SLC29A1_ENST00000313248.7_Silent_p.F180F|SLC29A1_ENST00000371755.3_Silent_p.F101F|SLC29A1_ENST00000427851.2_Silent_p.F101F|SLC29A1_ENST00000371724.1_Silent_p.F101F|SLC29A1_ENST00000371713.1_Silent_p.F101F|SLC29A1_ENST00000371740.5_Silent_p.F101F	p.F101F	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		5	794	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		101					B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Silent	SNP	ENST00000393841.1	37	c.303C>T	CCDS4908.1																																																																																				0.592	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040721.1			4	90	0	0	0	0.150653	0	4	90					T	44197517	C	T	44197517	2	4	46	1	0	0	0	0	0	0	0	1	14534	854	30	2		2	SLC29A1	6	44197517	Silent	SNP	C	TCGA-CE-A13K-01A-11D-A10S-08	797350	44197517	126917550	12	1139											
GABRR1	2569	broad.mit.edu	37	chr6	89890209	89890209	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcaccgttgtgataccTgcaaacacaagaatgagaaa	9	9	1	3			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr6:89890209T>A	ENST00000454853.2	-	9	1060		c.e9-2		GABRR1_ENST00000435811.1_Splice_Site|GABRR1_ENST00000369451.3_Splice_Site	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	TTGTGATACCTGCAAACACAA	0.512																																						ENST00000435811.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35						c.e8-2		gamma-aminobutyric acid (GABA) A receptor, rho 1	Picrotoxin(DB00466)						117	95	103					6																	89890209		2203	4300	6503	SO:0001630	splice_region_variant	2569				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|GABA-A receptor activity	g.chr6:89890209T>A		CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4090	protein-coding gene	gene with protein product	"GABA(A) receptor, rho 1"	137161	"gamma-aminobutyric acid (GABA) receptor, rho 1"			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.950-2A>T	6.37:g.89890209T>A						GABRR1_ENST00000369451.3_Splice_Site|GABRR1_ENST00000454853.2_Splice_Site		NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00917)	8	1353	-		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)						A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Splice_Site	SNP	ENST00000454853.2	37		CCDS5019.2	.	.	.	.	.	.	.	.	.	.	T	20.6	4.013480	0.75161	.	.	ENSG00000146276	ENST00000454853;ENST00000435811;ENST00000369451;ENST00000436331	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1818	0.72965	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	GABRR1	89946928	1.000000	0.71417	0.991000	0.47740	0.764000	0.43329	8.040000	0.89188	1.972000	0.57404	0.455000	0.32223	.		0.512	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041479.2		Intron	3	78	0	0	0	0.115264	0	3	78					A	89890209	T	A	89890209	5	1	46	1	0	0	0	0	0	0	1	0	6176	1594	55	5	499	5	GABRR1	6	89890209	Splice_Site	SNP	T	TCGA-CE-A13K-01A-11D-A10S-08	45692692	89890209	81224858	13	1140											
MDN1	23195	broad.mit.edu	37	chr6	90365677	90365677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcagcctgcccaggtttcCtcttaaaactctgagaaata	7	11	3	1			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr6:90365677C>T	ENST00000369393.3	-	92	15411	c.15296G>A	c.(15295-15297)aGg>aAg	p.R5099K	MDN1_ENST00000428876.1_Missense_Mutation_p.R5099K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5099					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCCAGGTTTCCTCTTAAAACT	0.468																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(15295-15297)aGg>aAg		MDN1, midasin homolog (yeast)							66	53	57					6																	90365677		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90365677C>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.15296G>A	6.37:g.90365677C>T	ENSP00000358400:p.Arg5099Lys					MDN1_ENST00000428876.1_Missense_Mutation_p.R5099K	p.R5099K			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	92	15411	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	5099					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.15296G>A	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.733743	0.69189	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03181	4.02;4.02	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.09158	0.0226	M	0.65498	2.005	0.51767	D	0.999936	D	0.69078	0.997	D	0.72625	0.978	T	0.41998	-0.9477	10	0.12430	T	0.62	.	19.5538	0.95333	0.0:1.0:0.0:0.0	.	5099	Q9NU22	MDN1_HUMAN	K	5099	ENSP00000358400:R5099K;ENSP00000413970:R5099K	ENSP00000358400:R5099K	R	-	2	0	MDN1	90422398	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.206000	0.77891	2.688000	0.91661	0.655000	0.94253	AGG		0.468	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			8	66	0	0	0	0.038147	0	8	66					T	90365677	C	T	90365677	3	4	46	1	0	0	0	0	1	0	0	0	9415	681	24	2	1538	2	MDN1	6	90365677	Missense_Mutation	SNP	C	TCGA-CE-A13K-01A-11D-A10S-08	475468	90365677	80749390	14	1141											
TFPI2	7980	broad.mit.edu	37	chr7	93519448	93519448	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggtgcgcgcagggcacttaCtttctatcctccagcaagca	11	13	1	0			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr7:93519448C>A	ENST00000222543.5	-	2	584		c.e2+1		GNGT1_ENST00000455502.1_Intron|AC002076.10_ENST00000435257.1_RNA|TFPI2_ENST00000545378.1_Splice_Site	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2						blood coagulation (GO:0007596)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			AGGGCACTTACTTTCTATCCT	0.602																																						ENST00000222543.5																			0				endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.e2+1		tissue factor pathway inhibitor 2							26	28	27					7																	93519448		2202	4299	6501	SO:0001630	splice_region_variant	7980				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity	g.chr7:93519448C>A	L27624	CCDS5632.1	7q	2008-07-18			ENSG00000105825	ENSG00000105825			11761	protein-coding gene	gene with protein product		600033				7896752, 8945635	Standard	NM_006528		Approved	PP5, TFPI-2, REF1	uc003umy.2	P48307	OTTHUMG00000022963	ENST00000222543.5:c.271+1G>T	7.37:g.93519448C>A						TFPI2_ENST00000545378.1_Splice_Site|GNGT1_ENST00000455502.1_Intron		NM_006528.3	NP_006519.1	P48307	TFPI2_HUMAN	STAD - Stomach adenocarcinoma(171;0.000967)		2	584	-	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)							Q66ME8|Q8NAK6|Q9UC86	Splice_Site	SNP	ENST00000222543.5	37		CCDS5632.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.646382	0.29246	.	.	ENSG00000105825	ENST00000222543;ENST00000545378;ENST00000451238	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4832	0.90819	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TFPI2	93357384	1.000000	0.71417	1.000000	0.80357	0.023000	0.10783	4.393000	0.59665	2.538000	0.85594	0.313000	0.20887	.		0.602	TFPI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254720.2	NM_006528	Intron	23	32	1	0	1.10513e-12	0.069288	1.44281e-12	23	32					A	93519448	C	A	93519448	5	1	46	1	0	0	0	0	0	0	1	0	15806	579	20	4	451	4	TFPI2	7	93519448	Splice_Site	SNP	C	TCGA-CE-A13K-01A-11D-A10S-08		93519448	65619215	15	1142											
TRRAP	8295	broad.mit.edu	37	chr7	98522768	98522768	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctggactgcctgaaaagcGccaacactgagccctactac	8	15	1	2	rs557385921		TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr7:98522768G>A	ENST00000359863.4	+	22	3066	c.2857G>A	c.(2857-2859)Gcc>Acc	p.A953T	TRRAP_ENST00000446306.3_Missense_Mutation_p.A952T|TRRAP_ENST00000355540.3_Missense_Mutation_p.A953T	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	953					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)			CCTGAAAAGCGCCAACACTGA	0.493																																						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.(2857-2859)Gcc>Acc		transformation/transcription domain-associated protein							142	118	127					7																	98522768		2203	4300	6503	SO:0001583	missense	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.chr7:98522768G>A	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.2857G>A	7.37:g.98522768G>A	ENSP00000352925:p.Ala953Thr					TRRAP_ENST00000355540.3_Missense_Mutation_p.A953T|TRRAP_ENST00000446306.3_Missense_Mutation_p.A952T	p.A953T	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		22	3066	+	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)		953					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.2857G>A	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338771	0.81911	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.03065	4.06;4.06	6.17	6.17	0.99709	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.02083	0.0065	N	0.08118	0	0.80722	D	1	P;P;P	0.48998	0.831;0.804;0.918	B;B;B	0.29785	0.107;0.06;0.079	T	0.65421	-0.6172	10	0.11182	T	0.66	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	953;667;953	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	T	953;953;951	ENSP00000352925:A953T;ENSP00000347733:A953T	ENSP00000347733:A953T	A	+	1	0	TRRAP	98360704	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	9.534000	0.98061	2.941000	0.99782	0.655000	0.94253	GCC		0.493	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		4	124	0	0	0	0.150653	0	4	124					A	98522768	G	A	98522768	3	1	46	1	0	0	0	0	1	0	0	0	16598	1087	38	1	2939	1	TRRAP	7	98522768	Missense_Mutation	SNP	G	TCGA-CE-A13K-01A-11D-A10S-08	5003320	98522768	60615895	16	1143											
MYST3	7994	broad.mit.edu	37	chr8	41791386	41791386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcagggtctgacacgccGcaagagtttcctcacagtcc	10	14	3	2	rs148148486		TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr8:41791386G>A	ENST00000396930.3	-	18	4895	c.4352C>T	c.(4351-4353)gCg>gTg	p.A1451V	KAT6A_ENST00000265713.2_Missense_Mutation_p.A1451V|KAT6A_ENST00000406337.1_Missense_Mutation_p.A1451V	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1451					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CTGACACGCCGCAAGAGTTTC	0.527																																						ENST00000396930.3																			0											c.(4351-4353)gCg>gTg		K(lysine) acetyltransferase 6A		G	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	120	108	112		4352,4352,4352	6.0	0.3	8	dbSNP_134	112	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	KAT6A	NM_001099412.1,NM_001099413.1,NM_006766.3	64,64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	1451/2005,1451/2005,1451/2005	41791386	1,13005	2203	4300	6503	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41791386G>A	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.4352C>T	8.37:g.41791386G>A	ENSP00000380136:p.Ala1451Val					KAT6A_ENST00000406337.1_Missense_Mutation_p.A1451V|KAT6A_ENST00000265713.2_Missense_Mutation_p.A1451V	p.A1451V	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	4895	-			1451					Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.4352C>T	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.965995	0.34659	0.0	1.16E-4	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.62105	0.05;0.05;0.05	5.96	5.96	0.96718	.	0.067965	0.64402	D	0.000009	T	0.66906	0.2837	N	0.24115	0.695	0.58432	D	0.999995	D	0.71674	0.998	P	0.58620	0.842	T	0.68334	-0.5436	10	0.56958	D	0.05	-17.023	20.4043	0.99006	0.0:0.0:1.0:0.0	.	1451	Q92794	KAT6A_HUMAN	V	1451	ENSP00000265713:A1451V;ENSP00000385888:A1451V;ENSP00000380136:A1451V	ENSP00000265713:A1451V	A	-	2	0	KAT6A	41910543	1.000000	0.71417	0.315000	0.25238	0.008000	0.06430	6.130000	0.71663	2.823000	0.97156	0.650000	0.86243	GCG		0.527	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		4	208	0	0	0	0.150653	0	4	208					A	41791386	G	A	41791386	3	1	46	1	0	0	0	0	1	0	0	0	10104	1087	38	1	1666	1	MYST3	8	41791386	Missense_Mutation	SNP	G	TCGA-CE-A13K-01A-11D-A10S-08		41791386	104572636	17	1144											
MTERFD1	51001	broad.mit.edu	37	chr8	97251725	97251725	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatacataaaaatctaaagCgtttttaagaatttttcaaa	3	5	2	1	rs377656018	byFrequency	TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr8:97251725C>T	ENST00000287025.3	-	8	1346	c.1248G>A	c.(1246-1248)acG>acA	p.T416T	MTERFD1_ENST00000523821.1_3'UTR|KB-1043D8.6_ENST00000520575.1_RNA|MTERFD1_ENST00000522822.1_Silent_p.T295T|MTERFD1_ENST00000524341.1_Silent_p.T172T	NM_015942.3	NP_057026.3	Q96E29	MTEF3_HUMAN		416					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)	transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					AAATCTAAAGCGTTTTTAAGA	0.284													C|||	3	0.000599042	8e-04	0	5008	,	,		16285	0		0	False		,,,				2504	0.002					ENST00000287025.3																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1246-1248)acG>acA		MTERF domain containing 1		C		2,4398	4.2+/-10.8	0,2,2198	34	36	35		1248	-1.4	1.0	8		35	0,8590		0,0,4295	no	coding-synonymous	MTERFD1	NM_015942.3		0,2,6493	TT,TC,CC		0.0,0.0455,0.0154		416/418	97251725	2,12988	2200	4295	6495	SO:0001819	synonymous_variant	51001				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding	g.chr8:97251725C>T																												ENST00000287025.3:c.1248G>A	8.37:g.97251725C>T						MTERFD1_ENST00000522822.1_Silent_p.T295T|MTERFD1_ENST00000523821.1_3'UTR|MTERFD1_ENST00000524341.1_Silent_p.T172T	p.T416T	NM_015942.3	NP_057026.3	Q96E29	MTER1_HUMAN			8	1346	-	Breast(36;5.16e-05)		416					B3KMG6|G3V130|Q9Y301	Silent	SNP	ENST00000287025.3	37	c.1248G>A	CCDS6270.1																																																																																				0.284	MTERFD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379876.1			12	19	0	0	0	0.080935	0	12	19					T	97251725	C	T	97251725	2	4	46	1	0	0	0	0	0	0	0	1	9919	755	27	1		1	MTERFD1	8	97251725	Silent	SNP	C	TCGA-CE-A13K-01A-11D-A10S-08	55460339	97251725	49112297	18	1145											
STRBP	55342	broad.mit.edu	37	chr9	125898354	125898354	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttttcttattatttgccGcattgggtccagaaaacagt	7	8	2	1			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr9:125898354G>A	ENST00000348403.5	-	16	2168	c.1739C>T	c.(1738-1740)gCg>gTg	p.A580V	STRBP_ENST00000360998.3_Missense_Mutation_p.A566V|STRBP_ENST00000447404.2_Missense_Mutation_p.A580V	NM_018387.4	NP_060857.2	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	580					cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.A580V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						ATTATTTGCCGCATTGGGTCC	0.398																																						ENST00000447404.2																			1	Substitution - Missense(1)	p.A580V(1)	endometrium(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						c.(1738-1740)gCg>gTg		spermatid perinuclear RNA binding protein							121	118	119					9																	125898354		2203	4300	6503	SO:0001583	missense	0				multicellular organismal development	cytoplasm|nucleus	DNA binding	g.chr9:125898354G>A	AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"spermatid perinuclear RNA-binding protein", "interleukin enhancer binding factor 3-like"	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000348403.5:c.1739C>T	9.37:g.125898354G>A	ENSP00000321347:p.Ala580Val					STRBP_ENST00000360998.3_Missense_Mutation_p.A566V|STRBP_ENST00000348403.5_Missense_Mutation_p.A580V	p.A580V			Q96SI9	STRBP_HUMAN			15	2043	-			580					Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	Missense_Mutation	SNP	ENST00000348403.5	37	c.1739C>T	CCDS6851.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.010221	0.93346	.	.	ENSG00000165209	ENST00000447404;ENST00000348403;ENST00000360998	T;T;T	0.18960	2.44;2.44;2.18	5.63	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.21590	0.0520	L	0.32530	0.975	0.58432	D	0.999997	D;D	0.65815	0.991;0.995	B;P	0.46237	0.311;0.508	T	0.01341	-1.1380	10	0.49607	T	0.09	-13.414	14.512	0.67794	0.0698:0.0:0.9302:0.0	.	580;566	Q96SI9;Q96SI9-2	STRBP_HUMAN;.	V	580;580;566	ENSP00000415968:A580V;ENSP00000321347:A580V;ENSP00000354271:A566V	ENSP00000321347:A580V	A	-	2	0	STRBP	124938175	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	1.389000	0.46526	0.655000	0.94253	GCG		0.398	STRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053982.1			5	135	0	0	0	0.021553	0	5	135					A	125898354	G	A	125898354	3	1	46	1	0	0	0	0	1	0	0	0	15326	1087	38	1	295	1	STRBP	9	125898354	Missense_Mutation	SNP	G	TCGA-CE-A13K-01A-11D-A10S-08		125898354	15315077	19	1146											
SVIL	6840	broad.mit.edu	37	chr10	29754571	29754571	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgcaggaagggcatggaaCtgaccacagagggggctcgg	17	10	0	2			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr10:29754571C>A	ENST00000355867.4	-	34	6838	c.6086G>T	c.(6085-6087)aGt>aTt	p.S2029I	SVIL_ENST00000375400.3_Missense_Mutation_p.S1603I|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000375398.2_Missense_Mutation_p.S2029I|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.S943I	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	2029					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)				GGGCATGGAACTGACCACAGA	0.587																																						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.(6085-6087)aGt>aTt		supervillin							43	46	45					10																	29754571		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29754571C>A	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.6086G>T	10.37:g.29754571C>A	ENSP00000348128:p.Ser2029Ile					SVIL_ENST00000535393.1_Missense_Mutation_p.S943I|PTCHD3P1_ENST00000455774.1_RNA|SVIL_ENST00000355867.4_Missense_Mutation_p.S2029I|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000375400.3_Missense_Mutation_p.S1603I	p.S2029I			O95425	SVIL_HUMAN			36	6535	-		Breast(68;0.103)	2029					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.6086G>T	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.895895	0.52121	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393	T;T;T;T	0.43688	1.88;1.88;1.88;0.94	4.72	3.69	0.42338	.	0.039425	0.85682	D	0.000000	T	0.40546	0.1121	L	0.58810	1.83	0.80722	D	1	B;B;B	0.33345	0.02;0.409;0.128	B;B;B	0.40982	0.169;0.345;0.083	T	0.35724	-0.9777	10	0.56958	D	0.05	-12.9702	4.5827	0.12266	0.0:0.2005:0.0:0.7995	.	943;1603;2029	F5H2Q5;O95425-2;O95425	.;.;SVIL_HUMAN	I	1603;2029;2029;943	ENSP00000364549:S1603I;ENSP00000364547:S2029I;ENSP00000348128:S2029I;ENSP00000445472:S943I	ENSP00000348128:S2029I	S	-	2	0	SVIL	29794577	1.000000	0.71417	0.712000	0.30502	0.475000	0.33008	2.599000	0.46231	1.011000	0.39340	0.650000	0.86243	AGT		0.587	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			20	61	1	0	4.35082e-09	0.055883	5.52671e-09	20	61					A	29754571	C	A	29754571	3	1	46	1	0	0	0	0	1	0	0	0	15418	565	20	4	578	4	SVIL	10	29754571	Missense_Mutation	SNP	C	TCGA-CE-A13K-01A-11D-A10S-08		29754571	105780176	20	1147											
RSF1	51773	broad.mit.edu	37	chr11	77404636	77404636	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtatggtatccactatcGcaagagtcacacagaagaat	9	9	1	3			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr11:77404636G>A	ENST00000308488.6	-	8	3038	c.2736C>T	c.(2734-2736)tgC>tgT	p.C912C	RSF1_ENST00000480887.1_Silent_p.C660C|Y_RNA_ENST00000384089.1_RNA|RSF1_ENST00000360355.2_Silent_p.C881C			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	912					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			ATCCACTATCGCAAGAGTCAC	0.453																																						ENST00000308488.6																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(2734-2736)tgC>tgT		remodeling and spacing factor 1							141	119	127					11																	77404636		2200	4292	6492	SO:0001819	synonymous_variant	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77404636G>A	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"Zinc fingers, PHD-type"	18118	protein-coding gene	gene with protein product		608522	"hepatitis B virus x associated protein"	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.2736C>T	11.37:g.77404636G>A						RSF1_ENST00000480887.1_Silent_p.C660C|RSF1_ENST00000360355.2_Silent_p.C881C	p.C912C			Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		8	3038	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		912					Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Silent	SNP	ENST00000308488.6	37	c.2736C>T	CCDS8253.1																																																																																				0.453	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		3	16	0	0	0	0.115264	0	3	16					A	77404636	G	A	77404636	2	1	46	1	0	0	0	0	0	0	0	1	13699	1079	38	1		1	RSF1	11	77404636	Silent	SNP	G	TCGA-CE-A13K-01A-11D-A10S-08		77404636	57601880	21	1148											
TAS2R19	259294	broad.mit.edu	37	chr12	11175081	11175081	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttaacccagtcaatgacattTactagggctatgaagccatt	7	9	1	2			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr12:11175081T>A	ENST00000390673.2	-	1	138	c.90A>T	c.(88-90)gtA>gtT	p.V30V	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	30					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CAATGACATTTACTAGGGCTA	0.408																																						ENST00000390673.2																			0				breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						c.(88-90)gtA>gtT		taste receptor, type 2, member 19							85	80	82					12																	11175081		2203	4300	6503	SO:0001819	synonymous_variant	259294				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11175081T>A	AX097730, AF494234	CCDS8640.1	12p13.2	2012-08-22			ENSG00000212124	ENSG00000212124		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19108	protein-coding gene	gene with protein product		613961	"taste receptor, type 2, member 48", "taste receptor, type 2, member 23"	TAS2R48, TAS2R23			Standard	NM_176888		Approved	T2R19, T2R23	uc010shj.2	P59542	OTTHUMG00000162687	ENST00000390673.2:c.90A>T	12.37:g.11175081T>A						PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	p.V30V	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN			1	138	-			30					Q3MIJ4|Q645X8	Silent	SNP	ENST00000390673.2	37	c.90A>T	CCDS8640.1																																																																																				0.408	TAS2R19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370080.1	NM_176888		4	91	0	0	0	0.150653	0	4	91					A	11175081	T	A	11175081	2	1	46	1	0	0	0	0	0	0	0	1	15567	1741	61	5		5	TAS2R19	12	11175081	Silent	SNP	T	TCGA-CE-A13K-01A-11D-A10S-08		11175081	122676814	22	1149											
ACSM2B	348158	broad.mit.edu	37	chr16	20565148	20565148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcgagtaggaatgttctgCcatcttgggaagaccactgg	13	9	2	1			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr16:20565148C>T	ENST00000329697.6	-	5	859	c.691G>A	c.(691-693)Gca>Aca	p.A231T	ACSM2B_ENST00000567288.1_5'Flank|ACSM2B_ENST00000567001.1_Missense_Mutation_p.A231T|ACSM2B_ENST00000565232.1_Missense_Mutation_p.A231T|ACSM2B_ENST00000565322.1_Missense_Mutation_p.A152T	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	231					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GAATGTTCTGCCATCTTGGGA	0.522																																						ENST00000329697.6																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(691-693)Gca>Aca		acyl-CoA synthetase medium-chain family member 2B							93	86	89					16																	20565148		2200	4281	6481	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20565148C>T	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"Acyl-CoA synthetase family"	30931	protein-coding gene	gene with protein product	"xenobiotic/medium chain fatty acid:CoA ligase"	614359	"acyl-CoA synthetase medium-chain family member 2"	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.691G>A	16.37:g.20565148C>T	ENSP00000327453:p.Ala231Thr					ACSM2B_ENST00000565232.1_Missense_Mutation_p.A231T|ACSM2B_ENST00000565322.1_Missense_Mutation_p.A152T|ACSM2B_ENST00000567001.1_Missense_Mutation_p.A231T	p.A231T	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN			5	859	-			231					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.691G>A	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	C	4.572	0.106202	0.08780	.	.	ENSG00000066813	ENST00000329697	T	0.52983	0.64	3.23	2.25	0.28309	AMP-dependent synthetase/ligase (1);	0.297819	0.24063	N	0.041894	T	0.34658	0.0905	L	0.39514	1.22	0.80722	D	1	P;P	0.35628	0.513;0.513	B;B	0.37731	0.257;0.257	T	0.07328	-1.0778	10	0.37606	T	0.19	-1.6256	4.7952	0.13269	0.0:0.649:0.2248:0.1261	.	231;231	A8K051;Q68CK6	.;ACS2B_HUMAN	T	231	ENSP00000327453:A231T	ENSP00000327453:A231T	A	-	1	0	ACSM2B	20472649	0.996000	0.38824	0.910000	0.35882	0.353000	0.29299	1.298000	0.33412	0.668000	0.31126	0.514000	0.50259	GCA		0.522	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		6	133	0	0	0	0.021553	0	6	133					T	20565148	C	T	20565148	3	4	46	1	0	0	0	0	1	0	0	0	184	739	26	2	1082	2	ACSM2B	16	20565148	Missense_Mutation	SNP	C	TCGA-CE-A13K-01A-11D-A10S-08		20565148	69789605	23	1150											
DVL2	1856	broad.mit.edu	37	chr17	7137472	7137472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaatcgccgagggtgatgCgctcggcggggacagggatc	18	9	0	2			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr17:7137472C>T	ENST00000005340.5	-	1	392	c.110G>A	c.(109-111)cGc>cAc	p.R37H	PHF23_ENST00000570753.1_5'Flank|DVL2_ENST00000575458.1_Missense_Mutation_p.R37H	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	37	DIX. {ECO:0000255|PROSITE- ProRule:PRU00069}.				canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						GAGGGTGATGCGCTCGGCGGG	0.602																																						ENST00000005340.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						c.(109-111)cGc>cAc		dishevelled segment polarity protein 2							103	110	108					17																	7137472		2203	4300	6503	SO:0001583	missense	1856				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity	g.chr17:7137472C>T	BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"Dishevelled homologs"	3086	protein-coding gene	gene with protein product		602151	"dishevelled 2 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 2 (Drosophila)"			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.110G>A	17.37:g.7137472C>T	ENSP00000005340:p.Arg37His					DVL2_ENST00000575458.1_Missense_Mutation_p.R37H	p.R37H	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN			1	392	-			37			DIX.		D3DTN3|Q53XM0	Missense_Mutation	SNP	ENST00000005340.5	37	c.110G>A	CCDS11091.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821401	0.90873	.	.	ENSG00000004975	ENST00000005340	T	0.43294	0.95	4.51	4.51	0.55191	DIX (3);	0.287347	0.32640	N	0.005840	T	0.51652	0.1687	L	0.53249	1.67	0.36170	D	0.848736	D;D;D	0.69078	0.997;0.996;0.997	P;P;P	0.60789	0.879;0.703;0.879	T	0.61787	-0.6991	10	0.56958	D	0.05	-13.7627	8.5504	0.33449	0.0:0.8922:0.0:0.1078	.	37;37;37	B4DLQ0;B4E2D6;O14641	.;.;DVL2_HUMAN	H	37	ENSP00000005340:R37H	ENSP00000005340:R37H	R	-	2	0	DVL2	7078196	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.334000	0.52097	2.055000	0.61198	0.484000	0.47621	CGC		0.602	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422		5	280	0	0	0	0.014758	0	5	280					T	7137472	C	T	7137472	3	4	46	1	0	0	0	0	1	0	0	0	4836	768	27	1	2160	1	DVL2	17	7137472	Missense_Mutation	SNP	C	TCGA-CE-A13K-01A-11D-A10S-08		7137472	74057738	24	1151											
ABCA10	10349	broad.mit.edu	37	chr17	67149674	67149674	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagttgttcctggagcttaaGagcttccaccaatctgacaa	8	10	1	2			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr17:67149674G>A	ENST00000269081.4	-	34	4888	c.3979C>T	c.(3979-3981)Ctt>Ttt	p.L1327F	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1327	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(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TGGAGCTTAAGAGCTTCCACC	0.423																																						ENST00000269081.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(3979-3981)Ctt>Ttt		ATP-binding cassette, sub-family A (ABC1), member 10							77	83	81					17																	67149674		2203	4300	6503	SO:0001583	missense	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67149674G>A	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"ATP binding cassette transporters / subfamily A"	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.3979C>T	17.37:g.67149674G>A	ENSP00000269081:p.Leu1327Phe					ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	p.L1327F	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN			34	4888	-	Breast(10;6.95e-12)		1327			ABC transporter 2.		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	c.3979C>T	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.113253	0.37339	.	.	ENSG00000154263	ENST00000269081	D	0.94897	-3.55	3.58	1.46	0.22682	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.274722	0.19030	N	0.124561	D	0.92116	0.7501	L	0.28608	0.87	0.80722	D	1	P;P	0.46784	0.884;0.584	P;P	0.55011	0.766;0.539	D	0.87518	0.2444	10	0.40728	T	0.16	.	6.5759	0.22567	0.3345:0.0:0.6655:0.0	.	319;1327	B4DPV2;Q8WWZ4	.;ABCAA_HUMAN	F	1327	ENSP00000269081:L1327F	ENSP00000269081:L1327F	L	-	1	0	ABCA10	64661269	0.046000	0.20272	0.001000	0.08648	0.031000	0.12232	0.252000	0.18278	0.160000	0.19432	0.563000	0.77884	CTT		0.423	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		4	202	0	0	0	0.150653	0	4	202					A	67149674	G	A	67149674	3	1	46	1	0	0	0	0	1	0	0	0	29	942	33	2	680	2	ABCA10	17	67149674	Missense_Mutation	SNP	G	TCGA-CE-A13K-01A-11D-A10S-08	60012202	67149674	14045536	25	1152											
LAMA3	3909	broad.mit.edu	37	chr18	21394416	21394416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtcctacttgtagccgctGcaaactgttatattggaatc	9	9	0	0			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr18:21394416G>A	ENST00000313654.9	+	15	2079	c.1838G>A	c.(1837-1839)tGc>tAc	p.C613Y	LAMA3_ENST00000399516.3_Missense_Mutation_p.C613Y	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	613	Domain V.|Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TGTAGCCGCTGCAAACTGTTA	0.343																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(1837-1839)tGc>tAc		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						150	140	143					18																	21394416		1830	4094	5924	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21394416G>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.1838G>A	18.37:g.21394416G>A	ENSP00000324532:p.Cys613Tyr					LAMA3_ENST00000399516.3_Missense_Mutation_p.C613Y	p.C613Y	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			15	2079	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		613			Domain V.|Laminin EGF-like 6.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.1838G>A	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557551	0.65425	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.65916	-0.18;-0.18	5.64	5.64	0.86602	EGF-like, laminin (3);	.	.	.	.	D	0.88276	0.6393	H	0.98682	4.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92503	0.6010	9	0.87932	D	0	.	19.7023	0.96060	0.0:0.0:1.0:0.0	.	613;613	Q6VU67;Q16787	.;LAMA3_HUMAN	Y	613;613;611	ENSP00000324532:C613Y;ENSP00000382432:C613Y	ENSP00000324532:C613Y	C	+	2	0	LAMA3	19648414	1.000000	0.71417	1.000000	0.80357	0.256000	0.26092	9.149000	0.94659	2.644000	0.89710	0.650000	0.86243	TGC		0.343	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		4	172	0	0	0	0.021553	0	4	172					A	21394416	G	A	21394416	3	1	46	1	0	0	0	0	1	0	0	0	8607	1319	46	2	1896	2	LAMA3	18	21394416	Missense_Mutation	SNP	G	TCGA-CE-A13K-01A-11D-A10S-08		21394416	56682832	26	1153											
PCSK4	148223	broad.mit.edu	37	chr19	1482365	1482366	+	5'Flank	DEL	CT	CT	-													cactcaccctggcacagcccCtctgtgtcccgctgcacaca							TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr19:1482365_1482366delCT	ENST00000436106.2	-	0	0				CTB-25B13.6_ENST00000585643.1_RNA|PCSK4_ENST00000300954.5_Frame_Shift_Del_p.E602fs			Q9UFG5	CS025_HUMAN	chromosome 19 open reading frame 25														Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		GGCACAGCCCCTCTGTGTCCCG	0.728																																						ENST00000300954.5																			0				cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1804-1806)gfs		proprotein convertase subtilisin/kexin type 4																																				SO:0001631	upstream_gene_variant	54760				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr19:1482365_1482366delCT	AK075267	CCDS45898.1	19p13.3	2012-10-24			ENSG00000119559	ENSG00000119559			26711	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_152482		Approved	FLJ36666	uc010dsk.3	Q9UFG5	OTTHUMG00000180092		19.37:g.1482367_1482368delCT	Exception_encountered						p.E602fs	NM_017573.3	NP_060043.2	Q6UW60	PCSK4_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)	14	1866_1867	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	602					B3KQN6|Q8N9R7|Q8WV94	Frame_Shift_Del	DEL	ENST00000436106.2	37	c.1805_1806delAG	CCDS45898.1																																																																																				0.728	C19orf25-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449694.1	NM_152482		3	3						3	3	---	---	---	---	-	1482366	CT	-	1482365	6	5	46	0	1	1	0	1	0	0	0	0	11602	680	24	0		0	PCSK4	19	1482365	5'Flank	DEL	CT	TCGA-CE-A13K-01A-11D-A10S-08		1482365	57646618	27	1154											
NDUFA7	4701	broad.mit.edu	37	chr19	8381518	8381518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacccacagggagcttgggaGgaggctgagttctgagggga	19	7	1	2			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr19:8381518G>A	ENST00000301457.2	-	3	150	c.113C>T	c.(112-114)cCt>cTt	p.P38L	NDUFA7_ENST00000598884.1_Missense_Mutation_p.P38L	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	38					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5						GAGCTTGGGAGGAGGCTGAGT	0.552																																						ENST00000301457.2																			0				NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5						c.(112-114)cCt>cTt		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	NADH(DB00157)						58	67	64					19																	8381518		1985	4161	6146	SO:0001583	missense	4701				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr19:8381518G>A	AF050637	CCDS42492.1	19p13.2	2013-05-14	2002-08-29		ENSG00000267855	ENSG00000267855		"Mitochondrial respiratory chain complex / Complex I"	7691	protein-coding gene	gene with protein product	"complex I B14.5a subunit"	602139	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7 (14.5kD, B14.5a)"			9763676	Standard	NM_005001		Approved	B14.5a	uc002mjm.2	O95182	OTTHUMG00000182459	ENST00000301457.2:c.113C>T	19.37:g.8381518G>A	ENSP00000301457:p.Pro38Leu					NDUFA7_ENST00000598884.1_Missense_Mutation_p.P38L	p.P38L	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN			3	150	-			38						Missense_Mutation	SNP	ENST00000301457.2	37	c.113C>T	CCDS42492.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723911	0.68959	.	.	ENSG00000167774	ENST00000301457	T	0.43688	0.94	5.74	4.68	0.58851	.	0.061565	0.64402	D	0.000003	T	0.53465	0.1798	L	0.53249	1.67	0.80722	D	1	P	0.47604	0.898	P	0.55055	0.767	T	0.54689	-0.8256	10	0.51188	T	0.08	-14.9915	14.6277	0.68635	0.0:0.0:0.8532:0.1468	.	38	O95182	NDUA7_HUMAN	L	38	ENSP00000301457:P38L	ENSP00000301457:P38L	P	-	2	0	NDUFA7	8287518	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.358000	0.97109	1.389000	0.46526	0.561000	0.74099	CCT		0.552	NDUFA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461373.1	NM_005001		3	89	0	0	0	0.115264	0	3	89					A	8381518	G	A	8381518	3	1	46	1	0	0	0	0	1	0	0	0	10270	1000	35	2	236	2	NDUFA7	19	8381518	Missense_Mutation	SNP	G	TCGA-CE-A13K-01A-11D-A10S-08	6899153	8381518	50747465	28	1155											
KANK3	256949	broad.mit.edu	37	chr19	8389408	8389408	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctgctcagcctccagggcGatggccagggcactggtgcc	14	15	1	0	rs529108334		TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr19:8389408G>A	ENST00000593649.1	-	10	2372	c.2307C>T	c.(2305-2307)atC>atT	p.I769I	KANK3_ENST00000330915.3_Silent_p.I769I			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	769										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						CCTCCAGGGCGATGGCCAGGG	0.637																																						ENST00000330915.3																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						c.(2305-2307)atC>atT		KN motif and ankyrin repeat domains 3							27	26	27					19																	8389408		2203	4300	6503	SO:0001819	synonymous_variant	256949							g.chr19:8389408G>A	AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	24796	protein-coding gene	gene with protein product		614611	"ankyrin repeat domain 47"	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.2307C>T	19.37:g.8389408G>A						KANK3_ENST00000593649.1_Silent_p.I769I	p.I769I	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN			10	2372	-			769					Q6NZI1|Q6ZQR3|Q8IUV2	Silent	SNP	ENST00000593649.1	37	c.2307C>T																																																																																					0.637	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1	NM_198471		3	41	0	0	0	0.115264	0	3	41					A	8389408	G	A	8389408	2	1	46	1	0	0	0	0	0	0	0	1	7978	1048	37	1		1	KANK3	19	8389408	Silent	SNP	G	TCGA-CE-A13K-01A-11D-A10S-08	7890	8389408	50739575	29	1156											
IL28B	282617	broad.mit.edu	37	chr19	39734513	39734513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaatggtggaggcggcccCgggtcctgggccctgccgtg	18	14	0	0	rs146276429		TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr19:39734513C>T	ENST00000413851.2	-	4	481	c.443G>A	c.(442-444)cGg>cAg	p.R148Q		NM_172139.2	NP_742151.2	Q8IZI9	IFNL3_HUMAN	interferon, lambda 3	148					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of viral genome replication (GO:0045071)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											GAGGCGGCCCCGGGTCCTGGG	0.692																																						ENST00000413851.2																			0											c.(442-444)cGg>cAg		interferon, lambda 3		T	GLN/ARG	0,4392		0,0,2196	21	28	26		443	-7.9	0.0	19	dbSNP_134	26	1,8539		0,1,4269	no	missense	IL28B	NM_172139.2	43	0,1,6465	TT,TC,CC		0.0117,0.0,0.0077	possibly-damaging	148/197	39734513	1,12931	2196	4270	6466	SO:0001583	missense	282617							g.chr19:39734513C>T	AY129149	CCDS12530.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000197110	ENSG00000197110		"Interferons"	18365	protein-coding gene	gene with protein product		607402	"interleukin 28B", "interleukin 28B (interferon, lambda 3)"	IL28B			Standard	NM_172139		Approved	IL-28B, IL28C	uc010xut.2	Q8IZI9	OTTHUMG00000182805	ENST00000413851.2:c.443G>A	19.37:g.39734513C>T	ENSP00000409000:p.Arg148Gln						p.R148Q	NM_172139.2	NP_742151.2					4	481	-								A2BDE1|Q6VN56|Q7Z4J3|Q8IWL6	Missense_Mutation	SNP	ENST00000413851.2	37	c.443G>A	CCDS12530.1	.	.	.	.	.	.	.	.	.	.	c	4.345	0.063564	0.08388	0.0	1.17E-4	ENSG00000197110	ENST00000413851	T	0.31247	1.5	3.95	-7.91	0.01165	.	1.913640	0.02255	N	0.066998	T	0.13586	0.0329	L	0.28504	0.86	0.09310	N	1	P	0.35226	0.491	B	0.19391	0.025	T	0.14587	-1.0467	10	0.20519	T	0.43	-0.2085	2.5438	0.04732	0.1054:0.2174:0.2089:0.4682	.	148	Q8IZI9	IL28B_HUMAN	Q	148	ENSP00000409000:R148Q	ENSP00000409000:R148Q	R	-	2	0	IL28B	44426353	0.000000	0.05858	0.001000	0.08648	0.046000	0.14306	-2.602000	0.00891	-2.265000	0.00688	-2.559000	0.00174	CGG		0.692	IFNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463832.1	NM_172139		8	58	0	0	0	0.160694	0	8	58					T	39734513	C	T	39734513	3	4	46	1	0	0	0	0	1	0	0	0	7683	652	23	1	154	1	IL28B	19	39734513	Missense_Mutation	SNP	C	TCGA-CE-A13K-01A-11D-A10S-08	31345105	39734513	19394470	30	1157											
POLD1	5424	broad.mit.edu	37	chr19	50910352	50910352	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaacgccgtggagatggCgagggtcactggcgtgcccc	18	11	1	2			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr19:50910352C>A	ENST00000440232.2	+	13	1660	c.1607C>A	c.(1606-1608)gCg>gAg	p.A536E	POLD1_ENST00000599857.1_Missense_Mutation_p.A536E|POLD1_ENST00000595904.1_Missense_Mutation_p.A536E	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	536					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GTGGAGATGGCGAGGGTCACT	0.652								DNA polymerases (catalytic subunits)																														ENST00000440232.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1606-1608)gCg>gAg	DNA polymerases (catalytic subunits)	polymerase (DNA directed), delta 1, catalytic subunit							72	67	69					19																	50910352		2203	4300	6503	SO:0001583	missense	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50910352C>A		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"DNA polymerases"	9175	protein-coding gene	gene with protein product	"CDC2 homolog (S. cerevisiae)"	174761	"polymerase (DNA directed), delta 1, catalytic subunit (125kD)"	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.1607C>A	19.37:g.50910352C>A	ENSP00000406046:p.Ala536Glu					POLD1_ENST00000599857.1_Missense_Mutation_p.A536E|POLD1_ENST00000595904.1_Missense_Mutation_p.A536E	p.A536E	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	13	1660	+		all_neural(266;0.0571)	536					Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	c.1607C>A	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.864502	0.71949	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.22945	1.93	3.96	2.92	0.33932	Ribonuclease H-like (1);	0.061486	0.64402	D	0.000006	T	0.65354	0.2683	H	0.99011	4.4	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76575	0.988;0.988	T	0.76605	-0.2898	10	0.87932	D	0	-32.6322	11.0962	0.48145	0.0:0.9034:0.0:0.0966	.	536;536	E7EVW0;P28340	.;DPOD1_HUMAN	E	536;537	ENSP00000406046:A536E	ENSP00000366129:A537E	A	+	2	0	POLD1	55602164	1.000000	0.71417	0.842000	0.33263	0.714000	0.41099	5.298000	0.65710	0.974000	0.38366	0.313000	0.20887	GCG		0.652	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			3	84	1	0	0.115264	0.115264	0.132132	3	84					A	50910352	C	A	50910352	3	1	46	1	0	0	0	0	1	0	0	0	12190	768	27	4	1653	4	POLD1	19	50910352	Missense_Mutation	SNP	C	TCGA-CE-A13K-01A-11D-A10S-08	11175839	50910352	8218631	31	1158											
ANKRD17	26057	broad.mit.edu	37	chr4	73957562	73957562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggctcaaaggcctgacaGgaaacggaccccaagtggat	13	11	1	1			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr4:73957562G>A	ENST00000358602.4	-	29	5899	c.5783C>T	c.(5782-5784)cCt>cTt	p.P1928L	ANKRD17_ENST00000330838.6_Missense_Mutation_p.P1677L|ANKRD17_ENST00000509867.2_Missense_Mutation_p.P1815L	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1928					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGGCCTGACAGGAAACGGACC	0.532																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(5782-5784)cCt>cTt		ankyrin repeat domain 17							86	82	83					4																	73957562		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73957562G>A	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.5783C>T	4.37:g.73957562G>A	ENSP00000351416:p.Pro1928Leu					ANKRD17_ENST00000509867.2_Missense_Mutation_p.P1815L|ANKRD17_ENST00000330838.6_Missense_Mutation_p.P1677L	p.P1928L	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		29	5899	-	Breast(15;0.000295)		1928					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.5783C>T	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762073	0.69763	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000426917	T;T;T	0.70282	-0.47;-0.47;-0.42	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000003	D	0.82527	0.5056	L	0.55990	1.75	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.996;0.996	T	0.83346	-0.0005	10	0.87932	D	0	.	19.7368	0.96210	0.0:0.0:1.0:0.0	.	1927;1677;1928;1815	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	L	1928;1335;1677;1815;312	ENSP00000351416:P1928L;ENSP00000332265:P1677L;ENSP00000427151:P1815L	ENSP00000332265:P1677L	P	-	2	0	ANKRD17	74176426	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.672000	0.90937	0.460000	0.39030	CCT		0.532	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		3	89	0	0	0	0.004672	0	3	89					A	73957562	G	A	73957562	3	1	47	1	0	0	0	0	1	0	0	0	646	1000	35	2	2052	2	ANKRD17	4	73957562	Missense_Mutation	SNP	G	TCGA-CE-A27D-01A-11D-A16O-08		73957562	117196714	1	1159											
CYP2U1	113612	broad.mit.edu	37	chr4	108866315	108866315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctccatcatcagcaatgCcgtctctaacatcatttgct	4	13	5	0			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr4:108866315C>T	ENST00000332884.6	+	2	955	c.680C>T	c.(679-681)gCc>gTc	p.A227V	CYP2U1_ENST00000508453.1_Missense_Mutation_p.A18V|RP11-286E11.1_ENST00000513071.1_RNA	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	227					arachidonic acid metabolic process (GO:0019369)|cell death (GO:0008219)|omega-hydroxylase P450 pathway (GO:0097267)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		ATCAGCAATGCCGTCTCTAAC	0.438																																						ENST00000332884.6																			0				breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10						c.(679-681)gCc>gTc		cytochrome P450, family 2, subfamily U, polypeptide 1							138	134	135					4																	108866315		2203	4300	6503	SO:0001583	missense	113612				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr4:108866315C>T	BC012027	CCDS34047.1	4q25	2012-11-23			ENSG00000155016	ENSG00000155016		"Cytochrome P450s"	20582	protein-coding gene	gene with protein product	"spastic paraplegia 49"	610670				14975754, 14660610	Standard	XM_005262717		Approved	SPG49	uc003hyp.3	Q7Z449	OTTHUMG00000161084	ENST00000332884.6:c.680C>T	4.37:g.108866315C>T	ENSP00000333212:p.Ala227Val					CYP2U1_ENST00000508453.1_Missense_Mutation_p.A18V|RP11-286E11.1_ENST00000513071.1_RNA	p.A227V	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000128)	2	955	+		Hepatocellular(203;0.217)	227					B2RMV7|Q96EQ6	Missense_Mutation	SNP	ENST00000332884.6	37	c.680C>T	CCDS34047.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974651	0.92919	.	.	ENSG00000155016	ENST00000332884;ENST00000424249;ENST00000508453	T;T	0.69435	-0.4;-0.4	5.63	5.63	0.86233	.	0.101545	0.64402	D	0.000002	D	0.83871	0.5348	M	0.83483	2.645	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.85220	0.1026	10	0.62326	D	0.03	.	19.32	0.94234	0.0:1.0:0.0:0.0	.	227	Q7Z449	CP2U1_HUMAN	V	227;184;18	ENSP00000333212:A227V;ENSP00000423667:A18V	ENSP00000333212:A227V	A	+	2	0	CYP2U1	109085764	1.000000	0.71417	0.951000	0.38953	0.973000	0.67179	5.759000	0.68785	2.652000	0.90054	0.655000	0.94253	GCC		0.438	CYP2U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363691.2	NM_183075		4	76	0	0	0	0.009096	0	4	76					T	108866315	C	T	108866315	3	4	47	1	0	0	0	0	1	0	0	0	4175	739	26	2	686	2	CYP2U1	4	108866315	Missense_Mutation	SNP	C	TCGA-CE-A27D-01A-11D-A16O-08	34908753	108866315	82287961	2	1160											
RAI14	26064	broad.mit.edu	37	chr5	34811917	34811917	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attggcagctctaacgctgtGgaagccttaattaaaaaggg	11	7	1	0			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr5:34811917G>A	ENST00000265109.3	+	9	890	c.603G>A	c.(601-603)gtG>gtA	p.V201V	RAI14_ENST00000506376.1_Silent_p.V193V|RAI14_ENST00000397449.1_Silent_p.V194V|RAI14_ENST00000512629.1_Silent_p.V201V|RAI14_ENST00000428746.2_Silent_p.V201V|RAI14_ENST00000503673.1_Silent_p.V201V|RAI14_ENST00000515799.1_Silent_p.V204V	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	201						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CTAACGCTGTGGAAGCCTTAA	0.378																																						ENST00000265109.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(601-603)gtG>gtA		retinoic acid induced 14							71	74	73					5																	34811917		2203	4300	6503	SO:0001819	synonymous_variant	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34811917G>A	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"Ankyrin repeat domain containing"	14873	protein-coding gene	gene with protein product	"novel retinal pigment epithelial"	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.603G>A	5.37:g.34811917G>A						RAI14_ENST00000397449.1_Silent_p.V194V|RAI14_ENST00000512629.1_Silent_p.V201V|RAI14_ENST00000503673.1_Silent_p.V201V|RAI14_ENST00000428746.2_Silent_p.V201V|RAI14_ENST00000506376.1_Silent_p.V193V|RAI14_ENST00000515799.1_Silent_p.V204V	p.V201V	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN			9	890	+	all_lung(31;0.000191)		201					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Silent	SNP	ENST00000265109.3	37	c.603G>A	CCDS34142.1																																																																																				0.378	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		7	52	0	0	0	0.006214	0	7	52					A	34811917	G	A	34811917	2	1	47	1	0	0	0	0	0	0	0	1	13008	1335	47	2		2	RAI14	5	34811917	Silent	SNP	G	TCGA-CE-A27D-01A-11D-A16O-08		34811917	146103343	3	1161											
NOTCH4	4855	broad.mit.edu	37	chr6	32171985	32171985	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggctgcagtgcctgtggggTggcagggctggtccagacac	18	10	0	1			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr6:32171985T>G	ENST00000375023.3	-	19	3185	c.3047A>C	c.(3046-3048)cAc>cCc	p.H1016P		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1016	EGF-like 26. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GCCTGTGGGGTGGCAGGGCTG	0.617																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(3046-3048)cAc>cCc		notch 4							69	52	58					6																	32171985		1509	2707	4216	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32171985T>G		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.3047A>C	6.37:g.32171985T>G	ENSP00000364163:p.His1016Pro						p.H1016P	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			19	3185	-			1016			EGF-like 26.		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.3047A>C	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.959281	0.74016	.	.	ENSG00000204301	ENST00000375023	D	0.87412	-2.25	4.77	4.77	0.60923	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.142165	0.32518	N	0.005985	D	0.86293	0.5898	L	0.41079	1.255	0.80722	D	1	D	0.67145	0.996	D	0.69479	0.964	D	0.86034	0.1515	9	.	.	.	.	12.2933	0.54831	0.0:0.0:0.0:1.0	.	1016	Q99466	NOTC4_HUMAN	P	1016	ENSP00000364163:H1016P	.	H	-	2	0	NOTCH4	32279963	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.453000	0.60061	2.013000	0.59113	0.459000	0.35465	CAC		0.617	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			7	24	0	0	0	0.004482	0	7	24					G	32171985	T	G	32171985	3	3	47	1	0	0	0	0	1	0	0	0	10551	1696	59	5	3012	5	NOTCH4	6	32171985	Missense_Mutation	SNP	T	TCGA-CE-A27D-01A-11D-A16O-08		32171985	138943082	4	1162											
PTPRZ1	5803	broad.mit.edu	37	chr7	121651637	121651637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaatccttccacaagttaCttcagctaccgagagtgata	6	11	2	2			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr7:121651637C>T	ENST00000393386.2	+	12	2948	c.2537C>T	c.(2536-2538)aCt>aTt	p.T846I	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	846					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CCACAAGTTACTTCAGCTACC	0.473																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(2536-2538)aCt>aTt		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							149	136	141					7																	121651637		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121651637C>T	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.2537C>T	7.37:g.121651637C>T	ENSP00000377047:p.Thr846Ile					PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	p.T846I	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			12	2948	+			846					A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.2537C>T	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702505	0.68501	.	.	ENSG00000106278	ENST00000393386	T	0.50277	0.75	5.71	5.71	0.89125	.	0.176747	0.40302	N	0.001131	T	0.62048	0.2396	M	0.67953	2.075	0.80722	D	1	P	0.50710	0.938	P	0.52267	0.694	T	0.64909	-0.6296	10	0.87932	D	0	.	19.8575	0.96767	0.0:1.0:0.0:0.0	.	846	P23471	PTPRZ_HUMAN	I	846	ENSP00000377047:T846I	ENSP00000377047:T846I	T	+	2	0	PTPRZ1	121438873	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	4.046000	0.57376	2.691000	0.91804	0.650000	0.86243	ACT		0.473	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		8	126	0	0	0	0.00308	0	8	126					T	121651637	C	T	121651637	3	4	47	1	0	0	0	0	1	0	0	0	12814	565	20	2	2583	2	PTPRZ1	7	121651637	Missense_Mutation	SNP	C	TCGA-CE-A27D-01A-11D-A16O-08		121651637	37487026	5	1163											
C10orf12	26148	broad.mit.edu	37	chr10	98742786	98742786	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcctagtgcaaaacgttcaAaaaaagaagggcaccctggt	9	9	1	1			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr10:98742786A>G	ENST00000286067.2	+	1	1746	c.1639A>G	c.(1639-1641)Aaa>Gaa	p.K547E		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	547										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AAAACGTTCAAAAAAAGAAGG	0.443																																						ENST00000286067.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45						c.(1639-1641)Aaa>Gaa		chromosome 10 open reading frame 12							59	70	66					10																	98742786		2202	4300	6502	SO:0001583	missense	26148							g.chr10:98742786A>G	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.1639A>G	10.37:g.98742786A>G	ENSP00000286067:p.Lys547Glu						p.K547E	NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	1746	+		Colorectal(252;0.172)	547					Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	c.1639A>G	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	A	8.687	0.906564	0.17833	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.10960	2.82	5.82	3.47	0.39725	.	0.530281	0.17255	N	0.180981	T	0.09113	0.0225	L	0.34521	1.04	0.27948	N	0.937272	B	0.18461	0.028	B	0.22386	0.039	T	0.19943	-1.0290	10	0.59425	D	0.04	-10.3251	7.6678	0.28441	0.7888:0.1404:0.0708:0.0	.	547	Q8N655	CJ012_HUMAN	E	547;381	ENSP00000286067:K547E	ENSP00000286067:K547E	K	+	1	0	C10orf12	98732776	1.000000	0.71417	0.998000	0.56505	0.061000	0.15899	2.549000	0.45803	0.462000	0.27095	-0.488000	0.04728	AAA		0.443	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		8	54	0	0	0	0.004482	0	8	54					G	98742786	A	G	98742786	3	3	47	1	0	0	0	0	1	0	0	0	1589	15	1	3	1641	3	C10orf12	10	98742786	Missense_Mutation	SNP	A	TCGA-CE-A27D-01A-11D-A16O-08		98742786	36791961	6	1164											
C10orf119	79892	broad.mit.edu	37	chr10	121612707	121612707	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtttgcattaacataggcGttaaacgaaaagttaagaaa	9	4	0	1	rs111837774		TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr10:121612707G>A	ENST00000360003.3	-	6	599		c.e6-1		MCMBP_ENST00000466047.1_Intron|MCMBP_ENST00000369077.3_Splice_Site	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein						DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						TAACATAGGCGTTAAACGAAA	0.363																																						ENST00000360003.3																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						c.e6-1		minichromosome maintenance complex binding protein							208	182	190					10																	121612707		2203	4300	6503	SO:0001630	splice_region_variant	79892				cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding	g.chr10:121612707G>A	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"chromosome 10 open reading frame 119"	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159	ENST00000360003.3:c.430-1C>T	10.37:g.121612707G>A						MCMBP_ENST00000369077.3_Splice_Site|MCMBP_ENST00000466047.1_Intron		NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN			6	599	-								B3KSP7|Q6IA56|Q9BVT9|Q9H916	Splice_Site	SNP	ENST00000360003.3	37		CCDS7617.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249790	0.80024	.	.	ENSG00000197771	ENST00000360003;ENST00000369077	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7333	0.88384	0.0:0.122:0.878:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MCMBP	121602697	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.881000	0.56152	2.941000	0.99782	0.655000	0.94253	.		0.363	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834	Intron	10	80	0	0	0	0.008291	0	10	80					A	121612707	G	A	121612707	5	1	47	1	0	0	0	0	0	0	1	0	1588	1159	40	1	1543	1	C10orf119	10	121612707	Splice_Site	SNP	G	TCGA-CE-A27D-01A-11D-A16O-08	22869921	121612707	13922040	7	1165											
CCDC89	220388	broad.mit.edu	37	chr11	85396623	85396623	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctagctccccagtgagggccTcacaccggactgtgagctgt	12	14	1	2			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr11:85396623T>C	ENST00000316398.3	-	1	697	c.551A>G	c.(550-552)gAg>gGg	p.E184G	CREBZF_ENST00000534224.1_5'Flank|CREBZF_ENST00000531515.1_5'Flank	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	184						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AGTGAGGGCCTCACACCGGAC	0.587																																						ENST00000316398.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15						c.(550-552)gAg>gGg		coiled-coil domain containing 89							122	114	117					11																	85396623		2203	4299	6502	SO:0001583	missense	220388					cytoplasm|nucleus		g.chr11:85396623T>C	AK095478	CCDS8270.1	11q14.1	2006-03-16			ENSG00000179071	ENSG00000179071			26762	protein-coding gene	gene with protein product						12477932	Standard	NM_152723		Approved	FLJ38159	uc001pau.1	Q8N998	OTTHUMG00000166976	ENST00000316398.3:c.551A>G	11.37:g.85396623T>C	ENSP00000320649:p.Glu184Gly						p.E184G	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN			1	697	-		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	184						Missense_Mutation	SNP	ENST00000316398.3	37	c.551A>G	CCDS8270.1	.	.	.	.	.	.	.	.	.	.	t	8.037	0.762928	0.15914	.	.	ENSG00000179071	ENST00000316398	.	.	.	5.79	4.65	0.58169	.	0.505445	0.21147	N	0.079393	T	0.26048	0.0635	L	0.43923	1.385	0.09310	N	1	P	0.38504	0.634	B	0.33620	0.167	T	0.14309	-1.0477	8	.	.	.	-2.9858	6.9545	0.24563	0.0:0.0768:0.2833:0.6399	.	184	Q8N998	CCD89_HUMAN	G	184	.	.	E	-	2	0	CCDC89	85074271	0.003000	0.15002	0.378000	0.26068	0.135000	0.20990	1.264000	0.33015	0.992000	0.38840	0.529000	0.55759	GAG		0.587	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392182.1	NM_152723		3	147	0	0	0	0.004672	0	3	147					C	85396623	T	C	85396623	3	2	47	1	0	0	0	0	1	0	0	0	2866	1551	54	3	577	3	CCDC89	11	85396623	Missense_Mutation	SNP	T	TCGA-CE-A27D-01A-11D-A16O-08		85396623	49609893	8	1166											
SAP18	10284	broad.mit.edu	37	chr13	21721465	21721465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaccacctccttcagggcGcatgagaccatattaaattc	8	13	1	1	rs376710499		TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr13:21721465G>A	ENST00000607003.1	+	4	478	c.446G>A	c.(445-447)cGc>cAc	p.R149H	SAP18_ENST00000382533.4_Missense_Mutation_p.R168H			O00422	SAP18_HUMAN	Sin3A-associated protein, 18kDa	149	Involved in splicing regulation activity.				mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)	p.R149H(1)		kidney(1)|large_intestine(1)|lung(4)	6		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)		CCTTCAGGGCGCATGAGACCA	0.403																																						ENST00000382533.4																			1	Substitution - Missense(1)	p.R149H(1)	kidney(1)	kidney(1)|large_intestine(1)|lung(4)	6						c.(502-504)cGc>cAc		Sin3A-associated protein, 18kDa		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	104	109	107		503	4.1	1.0	13		107	0,8600		0,0,4300	no	missense	SAP18	NM_005870.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	168/173	21721465	1,13005	2203	4300	6503	SO:0001583	missense	10284				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|plasma membrane	protein binding|transcription corepressor activity	g.chr13:21721465G>A	U96915	CCDS9295.2	13q12.11	2008-02-05	2006-02-02		ENSG00000150459	ENSG00000150459			10530	protein-coding gene	gene with protein product		602949	"sin3A-associated protein, 18kDa"			9150135	Standard	NM_005870		Approved	SAP18p, 2HOR0202, MGC27131	uc001uns.3	O00422	OTTHUMG00000016535	ENST00000607003.1:c.446G>A	13.37:g.21721465G>A	ENSP00000475925:p.Arg149His					SAP18_ENST00000607003.1_Missense_Mutation_p.R149H	p.R168H	NM_005870.4	NP_005861.2	O00422	SAP18_HUMAN		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)	4	542	+		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)	149					B2R494|Q2TTR4|Q6IAW9|Q8N606|Q9UF14	Missense_Mutation	SNP	ENST00000607003.1	37	c.503G>A		.	.	.	.	.	.	.	.	.	.	G	18.41	3.617576	0.66787	2.27E-4	0.0	ENSG00000150459	ENST00000382533	.	.	.	5.87	4.11	0.48088	.	0.141472	0.64402	D	0.000005	T	0.68559	0.3014	M	0.84683	2.71	0.58432	D	0.999997	B	0.14438	0.01	B	0.11329	0.006	T	0.66139	-0.5998	9	0.52906	T	0.07	-1.9179	10.9028	0.47062	0.0671:0.0:0.802:0.1309	.	149	O00422	SAP18_HUMAN	H	168	.	ENSP00000371973:R168H	R	+	2	0	SAP18	20619465	1.000000	0.71417	0.999000	0.59377	0.912000	0.54170	9.718000	0.98758	0.790000	0.33803	0.655000	0.94253	CGC		0.403	SAP18-009	PUTATIVE	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470725.1	NM_005870		4	117	0	0	0	0.009096	0	4	117					A	21721465	G	A	21721465	3	1	47	1	0	0	0	0	1	0	0	0	13832	1087	38	1	517	1	SAP18	13	21721465	Missense_Mutation	SNP	G	TCGA-CE-A27D-01A-11D-A16O-08		21721465	93448413	9	1167											
VAMP2	6844	broad.mit.edu	37	chr17	8065639	8065639	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagggggtgcagggggaccAccctccccagccggggcagc	19	14	0	0			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr17:8065639A>C	ENST00000316509.6	-	2	146	c.51T>G	c.(49-51)ggT>ggG	p.G17G	VAMP2_ENST00000488857.1_Silent_p.G19G|RP11-599B13.6_ENST00000498285.1_Silent_p.G17G|VAMP2_ENST00000481878.1_Silent_p.G17G|VAMP2_ENST00000404970.3_5'UTR	NM_014232.2	NP_055047.2	P63027	VAMP2_HUMAN	vesicle-associated membrane protein 2 (synaptobrevin 2)	17					cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|exocytosis (GO:0006887)|glutamate secretion (GO:0014047)|membrane organization (GO:0061024)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	calcium-dependent protein binding (GO:0048306)|protein self-association (GO:0043621)									Botulinum Toxin Type B(DB00042)	CAGGGGGACCACCCTCCCCAG	0.677																																						ENST00000316509.6																			0											c.(49-51)ggT>ggG		vesicle-associated membrane protein 2 (synaptobrevin 2)	Botulinum Toxin Type B(DB00042)						34	32	33					17																	8065639		2203	4300	6503	SO:0001819	synonymous_variant	6844				energy reserve metabolic process|glutamate secretion|post-Golgi vesicle-mediated transport|regulation of insulin secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to plasma membrane|synaptic vesicle membrane|synaptosome		g.chr17:8065639A>C		CCDS32561.1	17p13.1	2013-09-19			ENSG00000220205	ENSG00000220205		"Vesicle-associated membrane proteins"	12643	protein-coding gene	gene with protein product		185881		SYB2		1976629	Standard	NM_014232		Approved	VAMP-2	uc010cnt.1	P63027	OTTHUMG00000150254	ENST00000316509.6:c.51T>G	17.37:g.8065639A>C						VAMP2_ENST00000404970.3_5'UTR|RP11-599B13.6_ENST00000498285.1_Silent_p.G17G|VAMP2_ENST00000488857.1_Silent_p.G19G|VAMP2_ENST00000481878.1_Silent_p.G17G	p.G17G	NM_014232.2	NP_055047.2	P63027	VAMP2_HUMAN			2	146	-			17					P19065|Q9BUC2	Silent	SNP	ENST00000316509.6	37	c.51T>G	CCDS32561.1																																																																																				0.677	VAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317118.1			6	49	0	0	0	0.008291	0	6	49					C	8065639	A	C	8065639	2	2	47	1	0	0	0	0	0	0	0	1	17110	146	6	5		5	VAMP2	17	8065639	Silent	SNP	A	TCGA-CE-A27D-01A-11D-A16O-08		8065639	73129571	10	1168											
ZNF677	342926	broad.mit.edu	37	chr19	53740670	53740670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactttggataaaagccctgCcacacacattacatttgtgt	6	10	0	0			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr19:53740670C>T	ENST00000598513.1	-	5	1460	c.1310G>A	c.(1309-1311)gGc>gAc	p.G437D	ZNF677_ENST00000333952.4_Missense_Mutation_p.G437D	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	437					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		AAAAGCCCTGCCACACACATT	0.368																																						ENST00000333952.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1309-1311)gGc>gAc		zinc finger protein 677							47	44	45					19																	53740670		2203	4300	6503	SO:0001583	missense	342926				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53740670C>T	BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"Zinc fingers, C2H2-type", "-"	28730	protein-coding gene	gene with protein product	"hypothetical protein MGC48625"					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.1310G>A	19.37:g.53740670C>T	ENSP00000469391:p.Gly437Asp					ZNF677_ENST00000598513.1_Missense_Mutation_p.G437D	p.G437D			Q86XU0	ZN677_HUMAN		GBM - Glioblastoma multiforme(134;0.00352)	5	1475	-			437						Missense_Mutation	SNP	ENST00000598513.1	37	c.1310G>A	CCDS12861.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.936199	0.34189	.	.	ENSG00000197928	ENST00000333952	T	0.58358	0.34	2.21	0.0737	0.14392	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.220904	0.23270	N	0.050030	T	0.27559	0.0677	N	0.11000	0.08	0.26011	N	0.981984	B	0.27594	0.182	B	0.28553	0.091	T	0.14699	-1.0463	10	0.59425	D	0.04	.	4.778	0.13189	0.0:0.5141:0.0:0.4859	.	437	Q86XU0	ZN677_HUMAN	D	437	ENSP00000334394:G437D	ENSP00000334394:G437D	G	-	2	0	ZNF677	58432482	0.015000	0.18098	0.754000	0.31244	0.882000	0.50991	0.154000	0.16343	0.082000	0.17018	0.655000	0.94253	GGC		0.368	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609		3	34	0	0	0	0.004672	0	3	34					T	53740670	C	T	53740670	3	4	47	1	0	0	0	0	1	0	0	0	18081	739	26	2	448	2	ZNF677	19	53740670	Missense_Mutation	SNP	C	TCGA-CE-A27D-01A-11D-A16O-08		53740670	5388313	11	1169											
MGAT3	4248	broad.mit.edu	37	chr22	39883399	39883399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcatgttctgtatggccgGcctgtgcctcatctccttcc	8	15	4	0			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr22:39883399G>A	ENST00000341184.6	+	2	262	c.47G>A	c.(46-48)gGc>gAc	p.G16D		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	16					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					TGTATGGCCGGCCTGTGCCTC	0.562																																						ENST00000341184.6																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24						c.(46-48)gGc>gAc		mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase							209	200	203					22																	39883399		2203	4300	6503	SO:0001583	missense	4248				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	g.chr22:39883399G>A	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.47G>A	22.37:g.39883399G>A	ENSP00000345270:p.Gly16Asp						p.G16D	NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN			2	262	+	Melanoma(58;0.04)		16					A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	ENST00000341184.6	37	c.47G>A	CCDS13994.2	.	.	.	.	.	.	.	.	.	.	G	23.4	4.417569	0.83449	.	.	ENSG00000128268	ENST00000341184;ENST00000429402;ENST00000418314	.	.	.	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.68641	0.3023	L	0.32530	0.975	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.72494	-0.4276	9	0.87932	D	0	.	18.6374	0.91383	0.0:0.0:1.0:0.0	.	16	Q09327	MGAT3_HUMAN	D	16;16;44	.	ENSP00000345270:G16D	G	+	2	0	MGAT3	38213345	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.210000	0.77924	2.397000	0.81536	0.467000	0.42956	GGC		0.562	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409		4	212	0	0	0	0.009096	0	4	212					A	39883399	G	A	39883399	3	1	47	1	0	0	0	0	1	0	0	0	9544	1203	42	2	49	2	MGAT3	22	39883399	Missense_Mutation	SNP	G	TCGA-CE-A27D-01A-11D-A16O-08		39883399	11421167	12	1170											
MACF1	23499	broad.mit.edu	37	chr1	39847746	39847746	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctccggccgtggctgatggaGaaagaactgatgatgggagt	16	7	0	5			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr1:39847746G>A	ENST00000372915.3	+	55	13872	c.13785G>A	c.(13783-13785)gaG>gaA	p.E4595E	MACF1_ENST00000317713.7_Silent_p.E2528E|MACF1_ENST00000564288.1_Silent_p.E4590E|MACF1_ENST00000545844.1_Silent_p.E2528E|MACF1_ENST00000289893.4_Silent_p.E3030E|MACF1_ENST00000361689.2_Silent_p.E2528E|MACF1_ENST00000539005.1_Silent_p.E2507E|MACF1_ENST00000567887.1_Silent_p.E4627E			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4595					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGCTGATGGAGAAAGAACTGA	0.532																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(13768-13770)gaG>gaA		microtubule-actin crosslinking factor 1							56	59	58					1																	39847746		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39847746G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.13785G>A	1.37:g.39847746G>A						MACF1_ENST00000361689.2_Silent_p.E2528E|MACF1_ENST00000539005.1_Silent_p.E2507E|MACF1_ENST00000567887.1_Silent_p.E4627E|MACF1_ENST00000372915.3_Silent_p.E4595E|MACF1_ENST00000289893.4_Silent_p.E3030E|MACF1_ENST00000317713.7_Silent_p.E2528E|MACF1_ENST00000545844.1_Silent_p.E2528E	p.E4590E			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		56	14547	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4595	R -> Q (in Ref. 1; BAA83821).				B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.13770G>A		.	.	.	.	.	.	.	.	.	.	G	9.218	1.032666	0.19590	.	.	ENSG00000127603	ENST00000372925	T	0.41065	1.01	5.95	4.07	0.47477	.	0.000000	0.64402	D	0.000017	T	0.50000	0.1590	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40534	-0.9558	7	0.33141	T	0.24	.	13.1435	0.59448	0.1278:0.0:0.8722:0.0	.	.	.	.	K	1641	ENSP00000362016:E1641K	ENSP00000362016:E1641K	E	+	1	0	MACF1	39620333	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.907000	0.63300	0.839000	0.34971	0.650000	0.86243	GAA		0.532	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		3	64	0	0	0	0.115264	0	3	64					A	39847746	G	A	39847746	2	1	48	1	0	0	0	0	0	0	0	1	9144	933	33	2		2	MACF1	1	39847746	Silent	SNP	G	TCGA-CE-A3MD-01A-11D-A20C-08		39847746	209402875	1	1171											
TNNI3K	100144878	broad.mit.edu	37	chr1	74957824	74957826	+	Intron	DEL	CTT	CTT	-													cagcagtgggtctctctcacCttcttcttcttctgattgcc							TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr1:74957824_74957826delCTT	ENST00000294635.4	-	2	89				TNNI3K_ENST00000326637.3_In_Frame_Del_p.S746del|FPGT-TNNI3K_ENST00000557284.2_In_Frame_Del_p.S860del|TNNI3K_ENST00000370891.2_In_Frame_Del_p.S847del			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53							integral component of membrane (GO:0016021)				NS(1)|breast(1)|lung(2)	4						TCTCTCTCACCTTCTTCTTCTTC	0.473																																						ENST00000370891.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						c.(2527-2532)cct>c		TNNI3 interacting kinase			,	16,4250		8,0,2125					,	5.6	1.0			204	28,8226		13,2,4112	no	coding,coding	TNNI3K,FPGT-TNNI3K	NM_015978.2,NM_001112808.2	,	21,2,6237	A1A1,A1R,RR		0.3392,0.3751,0.3514	,	,		44,12476				SO:0001627	intron_variant	51086							g.chr1:74957824_74957826delCTT			1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.26-8765AAG>-	1.37:g.74957833_74957835delCTT						LRRC53_ENST00000294635.4_Intron|TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del|FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del	p.PS843del	NM_001112808.2	NP_001106279.1					25	2544_2546	+									In_Frame_Del	DEL	ENST00000294635.4	37	c.2528_2530delCTT																																																																																					0.473	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000026515.2			8	444						8	444	---	---	---	---	-	74957826	CTT	-	74957824	6	5	48	0	1	1	0	1	0	0	0	0	16326	681	24	0		0	TNNI3K	1	74957824	Intron	DEL	CTT	TCGA-CE-A3MD-01A-11D-A20C-08	35110078	74957824	174292797	2	1172											
NBPF10	100132406	broad.mit.edu	37	chr1	145360640	145360640	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	attcgactccttcaggttgtCttgaactgtgtgactcatgc	9	10	3	2			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr1:145360640C>G	ENST00000342960.5	+	74	9300	c.9265C>G	c.(9265-9267)Ctt>Gtt	p.L3089V	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	647						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TTCAGGTTGTCTTGAACTGTG	0.493																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(9265-9267)Ctt>Gtt		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145360640C>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.9265C>G	1.37:g.145360640C>G	ENSP00000345684:p.Leu3089Val					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.L3089V	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	74	9300	+	all_hematologic(923;0.032)		3089					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.9265C>G	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	4.533	0.098999	0.08681	.	.	ENSG00000163386	ENST00000342960	T	0.07216	3.21	1.08	0.106	0.14540	.	.	.	.	.	T	0.02304	0.0071	M	0.82517	2.595	0.09310	N	1	P	0.38110	0.618	B	0.25759	0.063	T	0.45011	-0.9290	9	0.15952	T	0.53	.	3.3753	0.07235	0.0:0.7074:0.0:0.2926	.	2770	A6NDV3	.	V	3089	ENSP00000345684:L3089V	ENSP00000345684:L3089V	L	+	1	0	NBPF10	144071997	0.001000	0.12720	0.001000	0.08648	0.010000	0.07245	1.012000	0.29924	0.048000	0.15891	0.175000	0.17021	CTT		0.493	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		2	6	0	0	0	0.115264	0	2	6					G	145360640	C	G	145360640	3	3	48	1	0	0	0	0	1	0	0	0	10193	913	32	4	9559	4	NBPF10	1	145360640	Missense_Mutation	SNP	C	TCGA-CE-A3MD-01A-11D-A20C-08	70402816	145360640	103889981	3	1173											
OR6K6	128371	broad.mit.edu	37	chr1	158725536	158725536	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttgttatccttgctcccTttttcaaccccatcatctat	2	14	3	0			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr1:158725536T>C	ENST00000368144.2	+	1	1027	c.931T>C	c.(931-933)Ttt>Ctt	p.F311L		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CCTTGCTCCCTTTTTCAACCC	0.438																																						ENST00000368144.2																			0				endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(931-933)Ttt>Ctt		olfactory receptor, family 6, subfamily K, member 6							149	140	143					1																	158725536		2203	4300	6503	SO:0001583	missense	128371				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158725536T>C	BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"GPCR / Class A : Olfactory receptors"	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.931T>C	1.37:g.158725536T>C	ENSP00000357126:p.Phe311Leu						p.F311L	NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN			1	1027	+	all_hematologic(112;0.0378)		311					B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	ENST00000368144.2	37	c.931T>C	CCDS30904.1	.	.	.	.	.	.	.	.	.	.	T	7.953	0.745283	0.15710	.	.	ENSG00000180433	ENST00000368144	T	0.35789	1.29	5.33	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41500	D	0.000869	T	0.05914	0.0154	N	0.03281	-0.365	0.29167	N	0.877357	B	0.28667	0.219	B	0.27380	0.079	T	0.16070	-1.0415	10	0.40728	T	0.16	-17.7057	7.5224	0.27635	0.1408:0.0:0.147:0.7122	.	311	Q8NGW6	OR6K6_HUMAN	L	311	ENSP00000357126:F311L	ENSP00000357126:F311L	F	+	1	0	OR6K6	156992160	0.000000	0.05858	0.973000	0.42090	0.816000	0.46133	-1.108000	0.03313	1.043000	0.40175	-0.257000	0.10917	TTT		0.438	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2	NM_001005184		3	135	0	0	0	0.115264	0	3	135					C	158725536	T	C	158725536	3	2	48	1	0	0	0	0	1	0	0	0	11204	1609	56	3	933	3	OR6K6	1	158725536	Missense_Mutation	SNP	T	TCGA-CE-A3MD-01A-11D-A20C-08	13364896	158725536	90525085	4	1174											
GOLGB1	2804	broad.mit.edu	37	chr3	121409980	121409980	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tattttgcaaggaactcataGaccttccaaaagactgaatt	6	8	1	3			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr3:121409980G>A	ENST00000340645.5	-	14	8341	c.8216C>T	c.(8215-8217)tCt>tTt	p.S2739F	GOLGB1_ENST00000393667.3_Missense_Mutation_p.S2744F	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2739					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GGAACTCATAGACCTTCCAAA	0.398																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(8230-8232)tCt>tTt		golgin B1							190	189	189					3																	121409980		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121409980G>A	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.8216C>T	3.37:g.121409980G>A	ENSP00000341848:p.Ser2739Phe					GOLGB1_ENST00000340645.5_Missense_Mutation_p.S2739F	p.S2744F	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	14	8341	-			2739					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.8231C>T	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.525122	0.44969	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.19394	2.15;2.15	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000014	T	0.47451	0.1446	M	0.70595	2.14	0.53005	D	0.999961	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.78314	0.987;0.987;0.991	T	0.42224	-0.9464	10	0.66056	D	0.02	.	17.1545	0.86787	0.0:0.0:1.0:0.0	.	2744;2744;2739	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	F	2739;2744	ENSP00000341848:S2739F;ENSP00000377275:S2744F	ENSP00000341848:S2739F	S	-	2	0	GOLGB1	122892670	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.269000	0.95684	2.642000	0.89623	0.655000	0.94253	TCT		0.398	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		6	176	0	0	0	0.27861	0	6	176					A	121409980	G	A	121409980	3	1	48	1	0	0	0	0	1	0	0	0	6565	942	33	2	1599	2	GOLGB1	3	121409980	Missense_Mutation	SNP	G	TCGA-CE-A3MD-01A-11D-A20C-08		121409980	76612450	5	1175											
ARSI	340075	broad.mit.edu	37	chr5	149676882	149676882	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccgggagaagcttcgagcCctcccttcctcttcctcctc	7	20	1	1			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr5:149676882C>A	ENST00000328668.7	-	2	2184	c.1605G>T	c.(1603-1605)agG>agT	p.R535S		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	535					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCTTCGAGCCCTCCCTTCCT	0.552																																						ENST00000328668.7																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23						c.(1603-1605)agG>agT		arylsulfatase family, member I							105	116	112					5																	149676882		2203	4300	6503	SO:0001583	missense	340075					endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding	g.chr5:149676882C>A	AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"Arylsulfatase family"	32521	protein-coding gene	gene with protein product		610009	"arylsulfatase I"			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.1605G>T	5.37:g.149676882C>A	ENSP00000333395:p.Arg535Ser						p.R535S	NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	2184	-			535					A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	ENST00000328668.7	37	c.1605G>T	CCDS34275.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.937748	0.00484	.	.	ENSG00000183876	ENST00000328668;ENST00000515301	D;D	0.97016	-4.21;-3.32	4.56	1.7	0.24286	.	0.581829	0.18755	N	0.132057	D	0.87935	0.6303	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.73789	-0.3872	10	0.09084	T	0.74	.	2.2815	0.04115	0.1346:0.4932:0.132:0.2401	.	535	Q5FYB1	ARSI_HUMAN	S	535;392	ENSP00000333395:R535S;ENSP00000426879:R392S	ENSP00000333395:R535S	R	-	3	2	ARSI	149657075	0.003000	0.15002	0.506000	0.27664	0.168000	0.22595	0.237000	0.17985	0.520000	0.28426	0.643000	0.83706	AGG		0.552	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301		109	161	1	0	5.99808e-64	0.870114	8.2196e-64	109	161					A	149676882	C	A	149676882	3	1	48	1	0	0	0	0	1	0	0	0	994	622	22	4	108	4	ARSI	5	149676882	Missense_Mutation	SNP	C	TCGA-CE-A3MD-01A-11D-A20C-08		149676882	31238378	6	1176											
DNAH8	1769	broad.mit.edu	37	chr6	38775405	38775405	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggagtgtaaagaggtctttgCttttttctctcatcaattac	8	7	4	1			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr6:38775405C>G	ENST00000359357.3	+	22	2773	c.2519C>G	c.(2518-2520)gCt>gGt	p.A840G	DNAH8_ENST00000449981.2_Missense_Mutation_p.A1057G|DNAH8_ENST00000441566.1_Missense_Mutation_p.A840G			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	840					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						GAGGTCTTTGCTTTTTTCTCT	0.343																																						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.(2518-2520)gCt>gGt		dynein, axonemal, heavy chain 8							100	101	101					6																	38775405		2202	4296	6498	SO:0001583	missense	1769							g.chr6:38775405C>G	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.2519C>G	6.37:g.38775405C>G	ENSP00000352312:p.Ala840Gly					DNAH8_ENST00000441566.1_Missense_Mutation_p.A840G|DNAH8_ENST00000449981.2_Missense_Mutation_p.A1057G	p.A840G							22	2773	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.2519C>G		.	.	.	.	.	.	.	.	.	.	C	12.81	2.050553	0.36181	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.25912	1.8;1.79;1.77	6.07	5.2	0.72013	.	0.205021	0.42682	D	0.000666	T	0.11281	0.0275	L	0.51422	1.61	0.39791	D	0.972436	B	0.06786	0.001	B	0.08055	0.003	T	0.06789	-1.0807	10	0.21014	T	0.42	.	12.6766	0.56897	0.0:0.9231:0.0:0.0769	.	840	Q96JB1	DYH8_HUMAN	G	1045;1045;840;840	ENSP00000333363:A1045G;ENSP00000352312:A840G;ENSP00000402294:A840G	ENSP00000333363:A1045G	A	+	2	0	DNAH8	38883383	0.961000	0.32948	0.991000	0.47740	0.994000	0.84299	1.700000	0.37815	1.591000	0.50007	0.650000	0.86243	GCT		0.343	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		28	65	0	0	0	0.769981	0	28	65					G	38775405	C	G	38775405	3	3	48	1	0	0	0	0	1	0	0	0	4607	797	28	4	2597	4	DNAH8	6	38775405	Missense_Mutation	SNP	C	TCGA-CE-A3MD-01A-11D-A20C-08		38775405	132339662	7	1177											
FOXP2	93986	broad.mit.edu	37	chr7	114270016	114270018	+	In_Frame_Del	DEL	CAG	CAG	-													aacagcagcagcagcagcaaCagcagcagcagcagcaacag							TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr7:114270016_114270018delCAG	ENST00000393494.2	+	5	832_834	c.553_555delCAG	c.(553-555)cagdel	p.Q191del	FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000393500.3_In_Frame_Del_p.Q116del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del			O15409	FOXP2_HUMAN	forkhead box P2	191	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q210Q(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						gcagcagcaacagcagcagcagc	0.507																																						ENST00000393500.3																			2	Substitution - coding silent(2)	p.Q210Q(2)	lung(2)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(328-330)del		forkhead box P2																																				SO:0001651	inframe_deletion	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	g.chr7:114270016_114270018delCAG	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.553_555delCAG	7.37:g.114270025_114270027delCAG	ENSP00000377132:p.Gln191del					FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del	p.Q116del			O15409	FOXP2_HUMAN			11	1148_1150	+			191			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	In_Frame_Del	DEL	ENST00000393494.2	37	c.328_330delCAG	CCDS5760.1																																																																																				0.507	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		7	74						7	74	---	---	---	---	-	114270018	CAG	-	114270016	7	5	48	1	0	1	0	1	0	0	0	0	6027	479	17	0	701	0	FOXP2	7	114270016	In_Frame_Del	DEL	CAG	TCGA-CE-A3MD-01A-11D-A20C-08		114270016	44868647	8	1178											
TG	7038	broad.mit.edu	37	chr8	133920500	133920500	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctcccgccgggcaagatgtGcagtgctgactacgcggatt	14	12	0	2			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr8:133920500G>C	ENST00000220616.4	+	18	3957	c.3917G>C	c.(3916-3918)tGc>tCc	p.C1306S	TG_ENST00000377869.1_Missense_Mutation_p.C1306S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1306					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGCAAGATGTGCAGTGCTGAC	0.597																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(3916-3918)tGc>tCc		thyroglobulin							72	66	68					8																	133920500		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133920500G>C	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.3917G>C	8.37:g.133920500G>C	ENSP00000220616:p.Cys1306Ser					TG_ENST00000377869.1_Missense_Mutation_p.C1306S	p.C1306S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	18	3957	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1306					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.3917G>C	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324658	0.60634	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616	T;T	0.72394	-0.65;-0.57	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000001	T	0.70159	0.3192	M	0.71581	2.175	0.41655	D	0.989156	P	0.39480	0.675	B	0.37091	0.241	T	0.76044	-0.3103	10	0.87932	D	0	.	14.8675	0.70427	0.0:0.0:1.0:0.0	.	1306	P01266	THYG_HUMAN	S	1306;112;1306	ENSP00000367100:C1306S;ENSP00000220616:C1306S	ENSP00000220616:C1306S	C	+	2	0	TG	133989682	1.000000	0.71417	1.000000	0.80357	0.664000	0.39144	5.889000	0.69766	2.567000	0.86603	0.650000	0.86243	TGC		0.597	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		47	72	0	0	0	0.870114	0	47	72					C	133920500	G	C	133920500	3	2	48	1	0	0	0	0	1	0	0	0	15810	1319	46	4	3987	4	TG	8	133920500	Missense_Mutation	SNP	G	TCGA-CE-A3MD-01A-11D-A20C-08		133920500	12443522	9	1179											
OR56B4	196335	broad.mit.edu	37	chr11	6129771	6129771	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctcccacctcatcctcatcCtcttccacacaggtatcatt	3	18	4	0			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr11:6129771C>A	ENST00000316529.3	+	1	858	c.763C>A	c.(763-765)Ctc>Atc	p.L255I	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCCTCATCCTCTTCCACAC	0.478																																						ENST00000316529.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21						c.(763-765)Ctc>Atc		olfactory receptor, family 56, subfamily B, member 4							142	129	134					11																	6129771		2201	4296	6497	SO:0001583	missense	196335				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6129771C>A	AB065513	CCDS31406.1	11p15.4	2012-08-09			ENSG00000180919	ENSG00000180919		"GPCR / Class A : Olfactory receptors"	15248	protein-coding gene	gene with protein product							Standard	NM_001005181		Approved		uc010qzx.2	Q8NH76	OTTHUMG00000165531	ENST00000316529.3:c.763C>A	11.37:g.6129771C>A	ENSP00000321196:p.Leu255Ile					RP11-290F24.3_ENST00000529961.1_RNA	p.L255I	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	858	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	255					Q6IFD7	Missense_Mutation	SNP	ENST00000316529.3	37	c.763C>A	CCDS31406.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.716505	0.48622	.	.	ENSG00000180919	ENST00000316529	T	0.00256	8.42	4.06	2.11	0.27256	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33401	U	0.004951	T	0.00356	0.0011	M	0.76433	2.335	0.09310	N	1	P	0.49559	0.925	P	0.59012	0.85	T	0.43147	-0.9409	10	0.66056	D	0.02	.	5.1562	0.15036	0.1688:0.6291:0.0:0.2021	.	255	Q8NH76	O56B4_HUMAN	I	255	ENSP00000321196:L255I	ENSP00000321196:L255I	L	+	1	0	OR56B4	6086347	0.001000	0.12720	0.808000	0.32385	0.873000	0.50193	0.468000	0.22051	0.432000	0.26286	0.556000	0.70494	CTC		0.478	OR56B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384668.1	NM_001005181		4	83	1	0	0.000602214	0.184627	0.00067521	4	83					A	6129771	C	A	6129771	3	1	48	1	0	0	0	0	1	0	0	0	11138	681	24	4	765	4	OR56B4	11	6129771	Missense_Mutation	SNP	C	TCGA-CE-A3MD-01A-11D-A20C-08		6129771	128876745	10	1180											
TSG101	7251	broad.mit.edu	37	chr11	18505466	18505466	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccagtttctggtgacccTttttcaggtcttcttctgtt	7	11	5	1			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr11:18505466T>C	ENST00000251968.3	-	8	1209	c.794A>G	c.(793-795)aAg>aGg	p.K265R	TSG101_ENST00000357193.3_Missense_Mutation_p.K160R|TSG101_ENST00000536719.1_Missense_Mutation_p.K265R	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	265					cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						CTGGTGACCCTTTTTCAGGTC	0.438																																					GBM(99;1348 1396 8611 26475 50572)	ENST00000536719.1																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(793-795)aAg>aGg		tumor susceptibility 101							262	254	257					11																	18505466		2199	4293	6492	SO:0001583	missense	7251				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr11:18505466T>C	U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"tumor susceptibility gene 10", "tumor susceptibility gene 101"	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.794A>G	11.37:g.18505466T>C	ENSP00000251968:p.Lys265Arg					TSG101_ENST00000357193.3_Missense_Mutation_p.K160R|TSG101_ENST00000251968.3_Missense_Mutation_p.K265R	p.K265R			Q99816	TS101_HUMAN			8	928	-			265					Q9BUM5	Missense_Mutation	SNP	ENST00000251968.3	37	c.794A>G	CCDS7842.1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.030954	0.54790	.	.	ENSG00000074319	ENST00000536719;ENST00000251968;ENST00000357193	T;T;T	0.52983	0.64;0.64;0.64	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.38957	0.1060	L	0.41710	1.295	0.54753	D	0.999982	B	0.06786	0.001	B	0.06405	0.002	T	0.18903	-1.0322	10	0.19147	T	0.46	-23.3487	14.3285	0.66537	0.0:0.0:0.0:1.0	.	265	Q99816	TS101_HUMAN	R	265;265;160	ENSP00000438471:K265R;ENSP00000251968:K265R;ENSP00000349721:K160R	ENSP00000251968:K265R	K	-	2	0	TSG101	18462042	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.375000	0.79646	2.125000	0.65367	0.459000	0.35465	AAG		0.438	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1	NM_006292		6	392	0	0	0	0.307466	0	6	392					C	18505466	T	C	18505466	3	2	48	1	0	0	0	0	1	0	0	0	16613	1609	56	3	390	3	TSG101	11	18505466	Missense_Mutation	SNP	T	TCGA-CE-A3MD-01A-11D-A20C-08	12375695	18505466	116501050	11	1181											
NAA40	79829	broad.mit.edu	37	chr11	63720256	63720256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagttggaaagcaaggtgCggcggaaaggcctggggaag	19	6	0	0	rs536599515		TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr11:63720256C>T	ENST00000377793.4	+	6	540	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	NAA40_ENST00000542163.1_Missense_Mutation_p.R126W|NAA40_ENST00000456907.2_Missense_Mutation_p.R107W|NAA40_ENST00000539656.1_Intron	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit	147	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				lipid metabolic process (GO:0006629)		N-acetyltransferase activity (GO:0008080)			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						AAGCAAGGTGCGGCGGAAAGG	0.542													C|||	1	0.000199681	8e-04	0	5008	,	,		21611	0		0	False		,,,				2504	0					ENST00000377793.4																			0				NS(1)|endometrium(1)|lung(2)|prostate(1)	5						c.(439-441)Cgg>Tgg		N(alpha)-acetyltransferase 40, NatD catalytic subunit							93	82	85					11																	63720256		2201	4297	6498	SO:0001583	missense	79829						N-acetyltransferase activity	g.chr11:63720256C>T	AK023910	CCDS8053.1, CCDS73311.1	11q13.1	2013-10-11	2013-08-28	2010-01-14	ENSG00000110583	ENSG00000110583		"N(alpha)-acetyltransferase subunits"	25845	protein-coding gene	gene with protein product			"N-acetyltransferase 11", "N-acetyltransferase 11 (GCN5-related, putative)", "N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae)"	NAT11		19660095	Standard	XM_005274296		Approved	FLJ13848	uc009yoz.3	Q86UY6	OTTHUMG00000167784	ENST00000377793.4:c.439C>T	11.37:g.63720256C>T	ENSP00000367024:p.Arg147Trp					NAA40_ENST00000539656.1_Intron|NAA40_ENST00000456907.2_Missense_Mutation_p.R107W|NAA40_ENST00000542163.1_Missense_Mutation_p.R126W	p.R147W	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN			6	540	+			147			N-acetyltransferase.		B4DR03|B4DU10|Q5HYL5|Q9H897	Missense_Mutation	SNP	ENST00000377793.4	37	c.439C>T	CCDS8053.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333728	0.81801	.	.	ENSG00000110583	ENST00000377793;ENST00000456907;ENST00000542163	T;T;T	0.61742	0.08;0.08;0.08	5.94	5.02	0.67125	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.76485	0.3994	M	0.80332	2.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.993;0.998	T	0.80190	-0.1485	10	0.87932	D	0	-10.5196	13.6677	0.62405	0.2807:0.7193:0.0:0.0	.	107;147	B4DU10;Q86UY6	.;NAA40_HUMAN	W	147;107;126	ENSP00000367024:R147W;ENSP00000407578:R107W;ENSP00000442055:R126W	ENSP00000367024:R147W	R	+	1	2	NAA40	63476832	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.797000	0.26999	1.487000	0.48415	0.650000	0.86243	CGG		0.542	NAA40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396266.1	NM_024771		4	118	0	0	0	0.217242	0	4	118					T	63720256	C	T	63720256	3	4	48	1	0	0	0	0	1	0	0	0	10125	759	27	1	461	1	NAA40	11	63720256	Missense_Mutation	SNP	C	TCGA-CE-A3MD-01A-11D-A20C-08	45214790	63720256	71286260	12	1182											
ADAMTS8	11095	broad.mit.edu	37	chr11	130275958	130275958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttctgcacacccgggtggCtccgctgcttcacgtcaata	10	15	3	0	rs367590895		TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr11:130275958C>T	ENST00000257359.6	-	9	2871	c.2165G>A	c.(2164-2166)aGc>aAc	p.S722N		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	722	Spacer.				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)		ACCCGGGTGGCTCCGCTGCTT	0.542																																						ENST00000257359.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(2164-2166)aGc>aAc		ADAM metallopeptidase with thrombospondin type 1 motif, 8		C	ASN/SER	0,4212		0,0,2106	78	81	80		2165	4.4	1.0	11		80	1,8435		0,1,4217	no	missense	ADAMTS8	NM_007037.4	46	0,1,6323	TT,TC,CC		0.0119,0.0,0.0079	possibly-damaging	722/890	130275958	1,12647	2106	4218	6324	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.chr11:130275958C>T	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.2165G>A	11.37:g.130275958C>T	ENSP00000257359:p.Ser722Asn						p.S722N	NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	9	2871	-	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)	722			Spacer.		Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	c.2165G>A	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.433160	0.43224	0.0	1.19E-4	ENSG00000134917	ENST00000531752;ENST00000257359;ENST00000414575	T	0.50813	0.73	5.35	4.43	0.53597	ADAM-TS Spacer 1 (1);	0.000000	0.85682	D	0.000000	T	0.55689	0.1936	L	0.60455	1.87	0.51233	D	0.999919	P;B	0.46706	0.883;0.363	P;B	0.55222	0.771;0.267	T	0.52139	-0.8615	10	0.09590	T	0.72	.	15.3481	0.74359	0.1409:0.8591:0.0:0.0	.	722;203	Q9UP79;B3KVX9	ATS8_HUMAN;.	N	120;722;751	ENSP00000257359:S722N	ENSP00000257359:S722N	S	-	2	0	ADAMTS8	129781168	1.000000	0.71417	0.988000	0.46212	0.536000	0.34869	4.689000	0.61723	1.218000	0.43458	0.467000	0.42956	AGC		0.542	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		92	132	0	0	0	0.870114	0	92	132					T	130275958	C	T	130275958	3	4	48	1	0	0	0	0	1	0	0	0	272	797	28	2	508	2	ADAMTS8	11	130275958	Missense_Mutation	SNP	C	TCGA-CE-A3MD-01A-11D-A20C-08	66555702	130275958	4730558	13	1183											
ERC1	23085	broad.mit.edu	37	chr12	1225197	1225197	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gggctgccatcctgcagactGaggtagaaacaattctggga	13	9	1	3			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr12:1225197G>T	ENST00000397203.2	+	7	1973	c.1567G>T	c.(1567-1569)Gag>Tag	p.E523*	ERC1_ENST00000543086.3_Nonsense_Mutation_p.E495*|ERC1_ENST00000589028.1_Nonsense_Mutation_p.E523*|ERC1_ENST00000355446.5_Nonsense_Mutation_p.E523*|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000546231.2_Nonsense_Mutation_p.E523*|ERC1_ENST00000360905.4_Nonsense_Mutation_p.E523*			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	523					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			CCTGCAGACTGAGGTAGAAAC	0.428																																						ENST00000397203.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(1567-1569)Gag>Tag		ELKS/RAB6-interacting/CAST family member 1							92	92	92					12																	1225197		2203	4300	6503	SO:0001587	stop_gained	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1225197G>T	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"RAB6 interacting protein 2"	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.1567G>T	12.37:g.1225197G>T	ENSP00000380386:p.Glu523*					ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000360905.4_Nonsense_Mutation_p.E523*|ERC1_ENST00000355446.5_Nonsense_Mutation_p.E523*|ERC1_ENST00000546231.2_Nonsense_Mutation_p.E523*|ERC1_ENST00000543086.3_Nonsense_Mutation_p.E495*|ERC1_ENST00000589028.1_Nonsense_Mutation_p.E523*	p.E523*			Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		7	1973	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		523					A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Nonsense_Mutation	SNP	ENST00000397203.2	37	c.1567G>T	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	G	39	7.428208	0.98279	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000543086;ENST00000542302;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	.	.	.	5.14	5.14	0.70334	.	0.102180	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-27.3138	19.4902	0.95047	0.0:0.0:1.0:0.0	.	.	.	.	X	495;523;495;495;495;495;523;523;523;495;271;163	.	ENSP00000340054:E495X	E	+	1	0	ERC1	1095458	1.000000	0.71417	0.935000	0.37517	0.059000	0.15707	9.737000	0.98831	2.780000	0.95670	0.585000	0.79938	GAG		0.428	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		47	115	1	0	3.30226e-22	0.870114	4.07279e-22	47	115					T	1225197	G	T	1225197	4	4	48	1	0	0	0	0	0	1	0	0	5210	1291	45	4	1589	4	ERC1	12	1225197	Nonsense_Mutation	SNP	G	TCGA-CE-A3MD-01A-11D-A20C-08		1225197	132626698	14	1184											
OR4N5	390437	broad.mit.edu	37	chr14	20612596	20612596	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactcctctgaaggaaagagCaaggctatttccacatgcac	8	12	1	2			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr14:20612596C>A	ENST00000333629.1	+	1	702	c.702C>A	c.(700-702)agC>agA	p.S234R	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	234			S -> T (in dbSNP:rs10140908).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		AAGGAAAGAGCAAGGCTATTT	0.502																																						ENST00000333629.1																			0				endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29						c.(700-702)agC>agA		olfactory receptor, family 4, subfamily N, member 5							152	152	152					14																	20612596		2203	4300	6503	SO:0001583	missense	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612596C>A		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"GPCR / Class A : Olfactory receptors"	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.702C>A	14.37:g.20612596C>A	ENSP00000332110:p.Ser234Arg						p.S234R	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	702	+	all_cancers(95;0.00108)		234		S -> T (in dbSNP:rs10140908).			Q6IF11	Missense_Mutation	SNP	ENST00000333629.1	37	c.702C>A	CCDS32031.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.159617	0.00321	.	.	ENSG00000184394	ENST00000333629	T	0.00099	8.73	3.88	-0.575	0.11734	GPCR, rhodopsin-like superfamily (1);	0.997836	0.08112	N	0.996023	T	0.00073	0.0002	N	0.03304	-0.355	0.20563	N	0.999885	B	0.20368	0.044	B	0.29353	0.101	T	0.32134	-0.9918	10	0.02654	T	1	.	0.558	0.00674	0.1767:0.3307:0.1725:0.32	.	234	Q8IXE1	OR4N5_HUMAN	R	234	ENSP00000332110:S234R	ENSP00000332110:S234R	S	+	3	2	OR4N5	19682436	0.000000	0.05858	0.406000	0.26421	0.530000	0.34684	-2.319000	0.01120	0.070000	0.16634	0.655000	0.94253	AGC		0.502	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			60	164	1	0	3.77215e-22	0.870114	4.50225e-22	60	164					A	20612596	C	A	20612596	3	1	48	1	0	0	0	0	1	0	0	0	11079	709	25	4	704	4	OR4N5	14	20612596	Missense_Mutation	SNP	C	TCGA-CE-A3MD-01A-11D-A20C-08		20612596	86736944	15	1185											
LTBP2	4053	broad.mit.edu	37	chr14	74975354	74975354	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacgaagccaggcgcgcacAgacagaagaaagacccgtgg	14	11	0	5			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr14:74975354A>G	ENST00000261978.4	-	24	3991	c.3605T>C	c.(3604-3606)cTg>cCg	p.L1202P	LTBP2_ENST00000556690.1_Missense_Mutation_p.L1202P	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1202	Cys-rich.|EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGGCGCGCACAGACAGAAGAA	0.627																																						ENST00000261978.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(3604-3606)cTg>cCg		latent transforming growth factor beta binding protein 2							45	55	51					14																	74975354		2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74975354A>G		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"Latent transforming growth factor, beta binding proteins"	6715	protein-coding gene	gene with protein product		602091	"chromosome 14 open reading frame 141"	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.3605T>C	14.37:g.74975354A>G	ENSP00000261978:p.Leu1202Pro					LTBP2_ENST00000556690.1_Missense_Mutation_p.L1202P	p.L1202P	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	24	3991	-			1202			Cys-rich.|EGF-like 12; calcium-binding (Potential).		Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.3605T>C	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	A	19.48	3.835711	0.71373	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	D;D	0.92495	-3.05;-3.05	5.2	5.2	0.72013	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.37348	N	0.002128	D	0.92325	0.7565	L	0.31207	0.915	0.80722	D	1	D	0.71674	0.998	D	0.69824	0.966	D	0.90635	0.4570	10	0.25751	T	0.34	.	13.7931	0.63155	1.0:0.0:0.0:0.0	.	1202	Q14767	LTBP2_HUMAN	P	1202	ENSP00000261978:L1202P;ENSP00000451477:L1202P	ENSP00000261978:L1202P	L	-	2	0	LTBP2	74045107	1.000000	0.71417	1.000000	0.80357	0.323000	0.28346	6.645000	0.74343	2.183000	0.69458	0.379000	0.24179	CTG		0.627	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		4	81	0	0	0	0.150653	0	4	81					G	74975354	A	G	74975354	3	3	48	1	0	0	0	0	1	0	0	0	9074	188	7	3	1912	3	LTBP2	14	74975354	Missense_Mutation	SNP	A	TCGA-CE-A3MD-01A-11D-A20C-08	54362758	74975354	32374186	16	1186											
NOX5	79400	broad.mit.edu	37	chr15	69331268	69331268	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gactacttgtatctgaacatCcccaccattgctcgctatga	6	13	1	2			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr15:69331268C>A	ENST00000388866.3	+	9	1484	c.1443C>A	c.(1441-1443)atC>atA	p.I481I	RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000448182.3_Silent_p.I435I|NOX5_ENST00000455873.3_Silent_p.I446I|NOX5_ENST00000260364.5_Silent_p.I463I|NOX5_ENST00000530406.2_Silent_p.I453I	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	481	C-terminal catalytic region.|FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						ATCTGAACATCCCCACCATTG	0.507																																						ENST00000260364.5																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1387-1389)atC>atA		NADPH oxidase, EF-hand calcium binding domain 5							241	224	230					15																	69331268		2200	4298	6498	SO:0001819	synonymous_variant	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69331268C>A	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"EF-hand domain containing"	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.1443C>A	15.37:g.69331268C>A						RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000448182.3_Silent_p.I435I|NOX5_ENST00000388866.3_Silent_p.I481I|NOX5_ENST00000530406.2_Silent_p.I453I|NOX5_ENST00000455873.3_Silent_p.I446I	p.I463I			Q96PH1	NOX5_HUMAN			10	1690	+			481			C-terminal catalytic region.|FAD-binding FR-type.		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Silent	SNP	ENST00000388866.3	37	c.1389C>A	CCDS32276.2																																																																																				0.507	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		100	210	1	0	7.97055e-49	0.870114	1.05325e-48	100	210					A	69331268	C	A	69331268	2	1	48	1	0	0	0	0	0	0	0	1	10559	845	30	4		4	NOX5	15	69331268	Silent	SNP	C	TCGA-CE-A3MD-01A-11D-A20C-08		69331268	33200124	17	1187											
REXO1	57455	broad.mit.edu	37	chr19	1827020	1827021	+	In_Frame_Ins	INS	-	-	GGA													tccgcccccgcgctggaggtINSggaggaggaggaggaggagg					rs3052937|rs367705891|rs143867072		TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr19:1827020_1827021insGGA	ENST00000170168.4	-	2	1861_1862	c.1767_1768insTCC	c.(1765-1770)tccacc>tccTCCacc	p.589_590insS	CTB-31O20.4_ENST00000593201.1_RNA|REXO1_ENST00000587524.1_5'Flank|CTB-31O20.4_ENST00000587741.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	589	Ser-rich.					nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		GCGCTggaggtggaggaggagg	0.703																																						ENST00000170168.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16						c.(1765-1770)tccctc>tcTCCcctc		REX1, RNA exonuclease 1 homolog (S. cerevisiae)																																				SO:0001652	inframe_insertion	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1827020_1827021insGGA	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"elongin A binding protein 1"	609614	"transcription elongation factor B polypeptide 3 binding protein 1"	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.1765_1767dupTCC	19.37:g.1827027_1827029dupGGA	ENSP00000170168:p.Ser591_Ser592dup						p.589_590SL>SPL	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_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)	2	1861_1862	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	589			Ser-rich.		Q9ULT2	In_Frame_Ins	INS	ENST00000170168.4	37	c.1767_1768insTCC	CCDS32866.1																																																																																				0.703	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		5	9						5	9	---	---	---	---	GGA	1827021	-	GGA	1827020	7	5	48	1	0	1	1	0	0	0	0	0	13241	1696	59	0	1957	0	REXO1	19	1827020	In_Frame_Ins	INS	-	TCGA-CE-A3MD-01A-11D-A20C-08		1827020	57301963	18	1188											
ZNF737	100129842	broad.mit.edu	37	chr19	20728254	20728254	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atttgtagggtttctctccaCtatgaattatcttatgtgca	7	7	2	1			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr19:20728254C>G	ENST00000427401.4	-	4	849	c.755G>C	c.(754-756)aGt>aCt	p.S252T		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	252					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(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TTTCTCTCCACTATGAATTAT	0.403																																						ENST00000427401.4																			0				breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(754-756)aGt>aCt		zinc finger protein 737							34	34	34					19																	20728254		692	1591	2283	SO:0001583	missense	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20728254C>G	BC015765	CCDS54238.1	19p12	2013-01-08						"Zinc fingers, C2H2-type", "-"	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.755G>C	19.37:g.20728254C>G	ENSP00000395733:p.Ser252Thr						p.S252T	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN			4	849	-			252					C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	c.755G>C	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	-	0	-2.857622	0.00065	.	.	ENSG00000237440	ENST00000427401	T	0.12879	2.64	0.1	-0.2	0.13216	.	.	.	.	.	T	0.03871	0.0109	N	0.03050	-0.425	0.24703	N	0.993244	B	0.02656	0.0	B	0.06405	0.002	T	0.41413	-0.9510	9	0.02654	T	1	.	5.4374	0.16488	0.0:0.645:0.355:0.0	.	252	C9JHM3	.	T	252	ENSP00000395733:S252T	ENSP00000395733:S252T	S	-	2	0	ZNF737	20520094	0.066000	0.20996	0.041000	0.18516	0.041000	0.13682	0.057000	0.14279	-1.260000	0.02465	-1.278000	0.01390	AGT		0.403	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		3	50	0	0	0	0.115264	0	3	50					G	20728254	C	G	20728254	3	3	48	1	0	0	0	0	1	0	0	0	18123	565	20	4	859	4	ZNF737	19	20728254	Missense_Mutation	SNP	C	TCGA-CE-A3MD-01A-11D-A20C-08	18901234	20728254	38400729	19	1189											
GAGE2A	729408	broad.mit.edu	37	chrX	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT													gttggcgaggaagatcgaccINStatcggcctagaccaagacg					rs372553636		TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(25-27)tat>TATtat	p.9_9Y>YY		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1	Q9UEU5	GGE2D_HUMAN	G antigen 2D	9					cellular defense response (GO:0006968)												GAAGATCGACCTATCGGCCTAG	0.465														477	0.126358	0.031	0.098	3775	,	,		26951	0.0972		0.1441	False		,,,				2504	0.1278					ENST00000404720.2																			0											c.(22-27)acatcg>acTATatcg		G antigen 2D				10,505,1500		1,1,3,4,46,330,82,490,187						-1.1	0.0			8	27,1244,2482		1,3,16,6,128,539,446,675,577	no	codingComplex	GAGE2D	NM_001098407.1		2,4,19,10,174,869,528,1165,764	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.8662,25.5583,30.9639				37,1749,3982				SO:0001652	inframe_insertion	729408							g.chrX:49208295_49208296insTAT			Xp11.23	2012-10-02			ENSG00000240257				31959	protein-coding gene	gene with protein product		300735					Standard	NM_001098407		Approved	GAGE8		Q9UEU5	OTTHUMG00000067393	ENST00000404720.2:c.25_27dupTAT	X.37:g.49208296_49208298dupTAT	ENSP00000386110:p.Tyr9dup						p.8_9TS>TIS	NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1					2	96_97	+								A6NG46|A6NNR8|B7ZL76|Q4V325	In_Frame_Ins	INS	ENST00000404720.2	37	c.24_25insTAT	CCDS43941.1																																																																																				0.465	GAGE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144212.1	NM_001098407		2	4						2	4	---	---	---	---	TAT	49208296	-	TAT	49208295	7	5	48	1	0	1	1	0	0	0	0	0	6190	668	24	0	236	0	GAGE2A	23	49208295	In_Frame_Ins	INS	-	TCGA-CE-A3MD-01A-11D-A20C-08		49208295	106062265	20	1190											
KIDINS220	57498	broad.mit.edu	37	chr2	8871700	8871700	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttcttgcctgggagaagcTtactgcctgactgatctgat	10	9	2	4			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr2:8871700T>C	ENST00000256707.3	-	30	4647	c.4466A>G	c.(4465-4467)aAg>aGg	p.K1489R	KIDINS220_ENST00000418530.1_Missense_Mutation_p.K1390R|KIDINS220_ENST00000427284.1_Missense_Mutation_p.K1470R|KIDINS220_ENST00000473731.1_Missense_Mutation_p.K1470R	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1489					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGGGAGAAGCTTACTGCCTGA	0.463																																						ENST00000256707.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(4465-4467)aAg>aGg		kinase D-interacting substrate, 220kDa							63	62	62					2																	8871700		1883	4106	5989	SO:0001583	missense	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8871700T>C	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.4466A>G	2.37:g.8871700T>C	ENSP00000256707:p.Lys1489Arg					KIDINS220_ENST00000473731.1_Missense_Mutation_p.K1470R|KIDINS220_ENST00000427284.1_Missense_Mutation_p.K1470R|KIDINS220_ENST00000418530.1_Missense_Mutation_p.K1390R	p.K1489R	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			30	4647	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1489					A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	c.4466A>G	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	T	15.97	2.989941	0.54041	.	.	ENSG00000134313	ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731	T;T;T;T	0.68331	-0.32;-0.29;-0.29;-0.29	5.92	5.92	0.95590	.	0.274263	0.39083	N	0.001461	T	0.71937	0.3399	N	0.19112	0.55	0.31211	N	0.698671	B;B;D	0.76494	0.009;0.005;0.999	B;B;D	0.85130	0.013;0.008;0.997	T	0.75972	-0.3129	10	0.87932	D	0	.	16.3648	0.83312	0.0:0.0:0.0:1.0	.	1390;1489;343	Q9ULH0-2;Q9ULH0;B4DG84	.;KDIS_HUMAN;.	R	1489;1470;1390;1470	ENSP00000256707:K1489R;ENSP00000411849:K1470R;ENSP00000414923:K1390R;ENSP00000418974:K1470R	ENSP00000256707:K1489R	K	-	2	0	KIDINS220	8789151	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.513000	0.67037	2.263000	0.75096	0.533000	0.62120	AAG		0.463	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		3	55	0	0	0	0.009096	0	3	55					C	8871700	T	C	8871700	3	2	49	1	0	0	0	0	1	0	0	0	8271	1609	56	3	853	3	KIDINS220	2	8871700	Missense_Mutation	SNP	T	TCGA-CE-A3ME-01A-11D-A20C-08		8871700	234327673	1	1191											
C3orf71	646450	broad.mit.edu	37	chr3	48955844	48955844	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcggagaactgcgcggcgaaCgaggcctcggcaggggaagc	18	11	0	1			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr3:48955844C>A	ENST00000408959.2	-	1	974	c.739G>T	c.(739-741)Gtt>Ttt	p.V247F	ARIH2_ENST00000449376.1_5'Flank|ARIH2_ENST00000356401.4_5'Flank	NM_001123040.1	NP_001116512.1	Q8N7S6	ARI2O_HUMAN	ariadne homolog 2 opposite strand	247						integral component of membrane (GO:0016021)											GCGCGGCGAACGAGGCCTCGG	0.592																																						ENST00000408959.2																			0											c.(739-741)Gtt>Ttt		ariadne homolog 2 opposite strand							78	76	76					3																	48955844		1568	3582	5150	SO:0001583	missense	646450							g.chr3:48955844C>A	DA461567	CCDS43088.1	3p21.31	2012-10-08	2012-10-08	2012-10-08	ENSG00000221883	ENSG00000221883			34425	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 71"	C3orf71			Standard	NM_001123040		Approved		uc010hkk.1	Q8N7S6	OTTHUMG00000156672	ENST00000408959.2:c.739G>T	3.37:g.48955844C>A	ENSP00000386193:p.Val247Phe						p.V247F	NM_001123040.1	NP_001116512.1					1	974	-									Missense_Mutation	SNP	ENST00000408959.2	37	c.739G>T	CCDS43088.1	.	.	.	.	.	.	.	.	.	.	C	6.293	0.422245	0.11928	.	.	ENSG00000221883	ENST00000408959	.	.	.	2.76	-5.53	0.02552	.	.	.	.	.	T	0.13841	0.0335	N	0.08118	0	0.09310	N	1	B	0.21381	0.055	B	0.20184	0.028	T	0.18618	-1.0331	8	0.87932	D	0	.	0.5333	0.00632	0.223:0.1533:0.2938:0.33	.	247	Q8N7S6	CC071_HUMAN	F	247	.	ENSP00000386193:V247F	V	-	1	0	C3orf71	48930848	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.239000	0.01198	-2.584000	0.00460	-1.086000	0.02197	GTT		0.592	ARIH2OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345247.1	NM_001123040		5	119	1	0	1.024e-07	0.014758	1.42039e-07	5	119					A	48955844	C	A	48955844	3	1	49	1	0	0	0	0	1	0	0	0	2243	536	19	4	137	4	C3orf71	3	48955844	Missense_Mutation	SNP	C	TCGA-CE-A3ME-01A-11D-A20C-08		48955844	149066586	2	1192											
SPATA18	132671	broad.mit.edu	37	chr4	52945025	52945025	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttggattatgtcatttgtcAtcttgatctatatgattctc	6	7	5	2	rs184420694		TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr4:52945025A>T	ENST00000295213.4	+	8	1519	c.1145A>T	c.(1144-1146)cAt>cTt	p.H382L	SPATA18_ENST00000419395.2_Missense_Mutation_p.H350L	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	382					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GTCATTTGTCATCTTGATCTA	0.383													A|||	1	0.000199681	0	0.0014	5008	,	,		19872	0		0	False		,,,				2504	0					ENST00000295213.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1144-1146)cAt>cTt		spermatogenesis associated 18							260	240	247					4																	52945025		2203	4300	6503	SO:0001583	missense	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52945025A>T	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"spermatogenesis associated 18 homolog (rat)"			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.1145A>T	4.37:g.52945025A>T	ENSP00000295213:p.His382Leu					SPATA18_ENST00000419395.2_Missense_Mutation_p.H350L	p.H382L	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		8	1519	+			382					B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	c.1145A>T	CCDS3489.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	A	14.09	2.431082	0.43122	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.34667	1.35;1.35	4.99	4.99	0.66335	.	0.051964	0.85682	D	0.000000	T	0.53061	0.1773	L	0.50333	1.59	0.39815	D	0.972768	D;D;D	0.89917	0.997;0.997;1.0	D;D;D	0.83275	0.93;0.93;0.996	T	0.58053	-0.7704	10	0.87932	D	0	-25.3481	12.7086	0.57076	1.0:0.0:0.0:0.0	.	350;382;382	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	L	382;350	ENSP00000295213:H382L;ENSP00000415309:H350L	ENSP00000295213:H382L	H	+	2	0	SPATA18	52639782	1.000000	0.71417	0.797000	0.32132	0.011000	0.07611	7.645000	0.83430	2.097000	0.63578	0.533000	0.62120	CAT		0.383	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		7	204	0	0	0	0.047766	0	7	204					T	52945025	A	T	52945025	3	4	49	1	0	0	0	0	1	0	0	0	15002	217	8	5	1175	5	SPATA18	4	52945025	Missense_Mutation	SNP	A	TCGA-CE-A3ME-01A-11D-A20C-08		52945025	138209251	3	1193											
FAM13A	10144	broad.mit.edu	37	chr4	89912157	89912157	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccaaatacagtggcgagaTtgtgaacattcatgcgattc	10	9	1	2			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr4:89912157T>C	ENST00000264344.5	-	4	779	c.572A>G	c.(571-573)aAt>aGt	p.N191S	FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000509094.1_Missense_Mutation_p.N191S|FAM13A_ENST00000515600.1_Missense_Mutation_p.N191S	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	191	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						AGTGGCGAGATTGTGAACATT	0.423																																						ENST00000264344.5																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						c.(571-573)aAt>aGt		family with sequence similarity 13, member A							153	134	140					4																	89912157		2203	4300	6503	SO:0001583	missense	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89912157T>C	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"Rho GTPase activating proteins"	19367	protein-coding gene	gene with protein product		613299	"family with sequence similarity 13, member A1"	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.572A>G	4.37:g.89912157T>C	ENSP00000264344:p.Asn191Ser					FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000509094.1_Missense_Mutation_p.N191S|FAM13A_ENST00000515600.1_Missense_Mutation_p.N191S	p.N191S	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN			4	779	-			191			Rho-GAP.		B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	ENST00000264344.5	37	c.572A>G	CCDS34029.1	.	.	.	.	.	.	.	.	.	.	T	12.66	2.005008	0.35415	.	.	ENSG00000138640	ENST00000264344;ENST00000509094;ENST00000515600	T;T;T	0.30182	1.54;1.54;1.54	4.51	4.51	0.55191	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.057988	0.64402	D	0.000003	T	0.52565	0.1742	M	0.80508	2.5	0.53688	D	0.999978	P;D	0.63046	0.756;0.992	P;P	0.59056	0.587;0.851	T	0.57900	-0.7731	9	.	.	.	.	14.8763	0.70496	0.0:0.0:0.0:1.0	.	191;191	Q6P521;O94988	.;FA13A_HUMAN	S	191	ENSP00000264344:N191S;ENSP00000426517:N191S;ENSP00000422345:N191S	.	N	-	2	0	FAM13A	90131180	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	2.503000	0.45407	2.252000	0.74401	0.533000	0.62120	AAT		0.423	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			5	141	0	0	0	0.02938	0	5	141					C	89912157	T	C	89912157	3	2	49	1	0	0	0	0	1	0	0	0	5452	1493	52	3	2616	3	FAM13A	4	89912157	Missense_Mutation	SNP	T	TCGA-CE-A3ME-01A-11D-A20C-08	36967132	89912157	101242119	4	1194											
PDHA2	5161	broad.mit.edu	37	chr4	96761700	96761700	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctttctgtccgatccattctCgcagagctgacgggaagaag	11	11	2	3			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr4:96761700C>T	ENST00000295266.4	+	1	462	c.399C>T	c.(397-399)ctC>ctT	p.L133L		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	133					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		GATCCATTCTCGCAGAGCTGA	0.517																																						ENST00000295266.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46						c.(397-399)ctC>ctT		pyruvate dehydrogenase (lipoamide) alpha 2	NADH(DB00157)						99	90	93					4																	96761700		2203	4300	6503	SO:0001819	synonymous_variant	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761700C>T		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.399C>T	4.37:g.96761700C>T							p.L133L	NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	462	+		Hepatocellular(203;0.114)	133					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Silent	SNP	ENST00000295266.4	37	c.399C>T	CCDS3644.1																																																																																				0.517	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			10	91	0	0	0	0.11911	0	10	91					T	96761700	C	T	96761700	2	4	49	1	0	0	0	0	0	0	0	1	11665	871	31	1		1	PDHA2	4	96761700	Silent	SNP	C	TCGA-CE-A3ME-01A-11D-A20C-08	6849543	96761700	94392576	5	1195											
STK31	56164	broad.mit.edu	37	chr7	23792452	23792452	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaatactgaaagaaatgagGtaggtaaaagcatatttttc	9	3	0	3			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr7:23792452G>A	ENST00000355870.3	+	9	1252		c.e9+1		STK31_ENST00000433467.2_Splice_Site|STK31_ENST00000405627.3_Splice_Site|STK31_ENST00000354639.3_Splice_Site|STK31_ENST00000428484.1_Splice_Site	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31							acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAGAAATGAGGTAGGTAAAAG	0.303																																						ENST00000354639.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.e9+1		serine/threonine kinase 31							56	56	56					7																	23792452		2203	4300	6503	SO:0001630	splice_region_variant	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23792452G>A	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"Tudor domain containing"	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.1133+1G>A	7.37:g.23792452G>A						STK31_ENST00000355870.3_Splice_Site|STK31_ENST00000433467.2_Splice_Site|STK31_ENST00000428484.1_Splice_Site|STK31_ENST00000405627.3_Splice_Site		NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN			9	1528	+								B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Splice_Site	SNP	ENST00000355870.3	37		CCDS5386.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.681029	0.29872	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.002	0.64439	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STK31	23758977	1.000000	0.71417	1.000000	0.80357	0.423000	0.31445	5.032000	0.64140	2.451000	0.82905	0.591000	0.81541	.		0.303	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414	Intron	3	46	0	0	0	0.115264	0	3	46					A	23792452	G	A	23792452	5	1	49	1	0	0	0	0	0	0	1	0	15295	1275	44	2	1168	2	STK31	7	23792452	Splice_Site	SNP	G	TCGA-CE-A3ME-01A-11D-A20C-08		23792452	135346211	6	1196											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		35	55	0	0	0	0.11126	0	35	55					T	140453136	A	T	140453136	3	4	49	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-CE-A3ME-01A-11D-A20C-08	116660684	140453136	18685527	7	1197											
COL15A1	1306	broad.mit.edu	37	chr9	101829274	101829274	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccacctaccgagcattcttAtcttcccatttgcaagatct	4	14	3	1			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr9:101829274A>G	ENST00000375001.3	+	40	4185	c.3762A>G	c.(3760-3762)ttA>ttG	p.L1254L		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1254	Nonhelical region 10 (NC10).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GAGCATTCTTATCTTCCCATT	0.463																																						ENST00000375001.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(3760-3762)ttA>ttG		collagen, type XV, alpha 1							159	136	144					9																	101829274		2203	4300	6503	SO:0001819	synonymous_variant	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101829274A>G	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.3762A>G	9.37:g.101829274A>G							p.L1254L	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN			40	4185	+		Acute lymphoblastic leukemia(62;0.0562)	1254			Nonhelical region 10 (NC10).		Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	c.3762A>G	CCDS35081.1																																																																																				0.463	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		4	138	0	0	0	0.021553	0	4	138					G	101829274	A	G	101829274	2	3	49	1	0	0	0	0	0	0	0	1	3672	446	16	3		3	COL15A1	9	101829274	Silent	SNP	A	TCGA-CE-A3ME-01A-11D-A20C-08		101829274	39384157	8	1198											
COPB1	1315	broad.mit.edu	37	chr11	14520418	14520418	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagctaatttcagatggtggTtctgaatccattggcacgtt	10	7	2	2			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr11:14520418T>C	ENST00000249923.3	-	2	357	c.57A>G	c.(55-57)gaA>gaG	p.E19E	PSMA1_ENST00000419365.2_3'UTR|PSMA1_ENST00000555531.1_3'UTR|COPB1_ENST00000439561.2_Silent_p.E19E	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	19					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						CAGATGGTGGTTCTGAATCCA	0.313																																						ENST00000249923.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						c.(55-57)gaA>gaG		coatomer protein complex, subunit beta 1							87	86	87					11																	14520418		2200	4294	6494	SO:0001819	synonymous_variant	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14520418T>C	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"coatomer protein complex, subunit beta"	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.57A>G	11.37:g.14520418T>C						PSMA1_ENST00000419365.2_3'UTR|COPB1_ENST00000439561.2_Silent_p.E19E|PSMA1_ENST00000555531.1_3'UTR	p.E19E	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN			2	357	-			19					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Silent	SNP	ENST00000249923.3	37	c.57A>G	CCDS7815.1																																																																																				0.313	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		28	52	0	0	0	0.11126	0	28	52					C	14520418	T	C	14520418	2	2	49	1	0	0	0	0	0	0	0	1	3728	1722	60	3		3	COPB1	11	14520418	Silent	SNP	T	TCGA-CE-A3ME-01A-11D-A20C-08		14520418	120486098	9	1199											
GPR44	11251	broad.mit.edu	37	chr11	60620167	60620169	+	In_Frame_Del	DEL	GCG	GCG	-													gagcgggcggtggaggaggtGcggcggcggcggctgcttcc							TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr11:60620167_60620169delGCG	ENST00000332539.4	-	2	1138_1140	c.1027_1029delCGC	c.(1027-1029)cgcdel	p.R343del	RP11-804A23.4_ENST00000538705.1_RNA	NM_004778.2	NP_004769.2	Q9Y5Y4	PD2R2_HUMAN	prostaglandin D2 receptor 2	343					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|calcium-mediated signaling (GO:0019722)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|prostaglandin D receptor activity (GO:0004956)|prostaglandin F receptor activity (GO:0004958)|prostaglandin J receptor activity (GO:0001785)									Indomethacin(DB00328)|Sulindac(DB00605)	TGGAGGAGGTGCGGCGGCGGCGG	0.749																																						ENST00000332539.4																			0											c.(1027-1029)del		prostaglandin D2 receptor 2				45,28,1843		12,1,20,7,13,905						-2.3	0.6		dbSNP_129	3	24,66,4762		5,0,14,11,44,2352	no	codingComplex	GPR44	NM_004778.2		17,1,34,18,57,3257	A1A1,A1A2,A1R,A2A2,A2R,RR		1.8549,3.81,2.4084				69,94,6605				SO:0001651	inframe_deletion	11251				immune response	integral to plasma membrane	N-formyl peptide receptor activity	g.chr11:60620167_60620169delGCG	AF118265	CCDS7994.1	11q12-q13.3	2012-08-08	2011-11-11	2011-11-11		ENSG00000183134		"CD molecules", "GPCR / Class A : Prostanoid receptors"	4502	protein-coding gene	gene with protein product	"chemoattractant receptor homologous molecule expressed on T helper type 2 cells"	604837	"G protein-coupled receptor 44"	GPR44		10036181	Standard	NM_004778		Approved	CRTH2, CD294, DP2	uc001nqc.2	Q9Y5Y4		ENST00000332539.4:c.1027_1029delCGC	11.37:g.60620176_60620178delGCG	ENSP00000332812:p.Arg343del						p.R343del	NM_004778.2	NP_004769.2	Q9Y5Y4	GPR44_HUMAN			2	1138_1140	-			343					O94765|Q4QRI6	In_Frame_Del	DEL	ENST00000332539.4	37	c.1027_1029delCGC	CCDS7994.1																																																																																				0.749	PTGDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396328.1	NM_004778		2	4						2	4	---	---	---	---	-	60620169	GCG	-	60620167	7	5	49	1	0	1	0	1	0	0	0	0	6695	1306	46	0	162	0	GPR44	11	60620167	In_Frame_Del	DEL	GCG	TCGA-CE-A3ME-01A-11D-A20C-08	46099749	60620167	74386349	10	1200											
SLC8A3	6547	broad.mit.edu	37	chr14	70634706	70634706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagaggagtatctcaggaGcagaggaacccagggccata	14	8	1	2			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr14:70634706G>A	ENST00000381269.2	-	2	1187	c.434C>T	c.(433-435)gCt>gTt	p.A145V	SLC8A3_ENST00000356921.2_Missense_Mutation_p.A145V|SLC8A3_ENST00000357887.3_Missense_Mutation_p.A145V|SLC8A3_ENST00000534137.1_Missense_Mutation_p.A145V|SLC8A3_ENST00000528359.1_Missense_Mutation_p.A145V	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	145					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TATCTCAGGAGCAGAGGAACC	0.488																																						ENST00000381269.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54						c.(433-435)gCt>gTt		solute carrier family 8 (sodium/calcium exchanger), member 3							100	92	95					14																	70634706		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70634706G>A	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"Solute carriers"	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.434C>T	14.37:g.70634706G>A	ENSP00000370669:p.Ala145Val					SLC8A3_ENST00000528359.1_Missense_Mutation_p.A145V|SLC8A3_ENST00000357887.3_Missense_Mutation_p.A145V|SLC8A3_ENST00000356921.2_Missense_Mutation_p.A145V|SLC8A3_ENST00000534137.1_Missense_Mutation_p.A145V	p.A145V	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	1187	-			145					Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.434C>T	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896913	0.72639	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08	5.48	5.48	0.80851	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.85217	0.5646	H	0.94964	3.605	0.80722	D	1	D;D;D;D	0.64830	0.991;0.993;0.994;0.994	D;D;P;P	0.69307	0.937;0.963;0.895;0.895	D	0.89170	0.3536	10	0.87932	D	0	.	19.3613	0.94440	0.0:0.0:1.0:0.0	.	145;145;145;145	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	V	145	ENSP00000349392:A145V;ENSP00000370669:A145V;ENSP00000350560:A145V;ENSP00000436688:A145V;ENSP00000433531:A145V	ENSP00000349392:A145V	A	-	2	0	SLC8A3	69704459	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.860000	0.99555	2.573000	0.86826	0.650000	0.86243	GCT		0.488	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			4	74	0	0	0	0.014758	0	4	74					A	70634706	G	A	70634706	3	1	49	1	0	0	0	0	1	0	0	0	14708	971	34	2	2488	2	SLC8A3	14	70634706	Missense_Mutation	SNP	G	TCGA-CE-A3ME-01A-11D-A20C-08		70634706	36714834	11	1201											
CHRM5	1133	broad.mit.edu	37	chr15	34355399	34355399	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctggctgatctccttcatcCtctgggccccagcaatcctc	7	18	3	1			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr15:34355399C>A	ENST00000383263.5	+	3	1151	c.481C>A	c.(481-483)Ctc>Atc	p.L161I	CHRM5_ENST00000557872.1_Missense_Mutation_p.L161I	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	161					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CTCCTTCATCCTCTGGGCCCC	0.547																																						ENST00000383263.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20						c.(481-483)Ctc>Atc		cholinergic receptor, muscarinic 5	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)						101	102	102					15																	34355399		2201	4298	6499	SO:0001583	missense	0				cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr15:34355399C>A		CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1954	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 5"	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.481C>A	15.37:g.34355399C>A	ENSP00000372750:p.Leu161Ile					CHRM5_ENST00000557872.1_Missense_Mutation_p.L161I	p.L161I	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	3	1151	+		all_lung(180;1.76e-08)	161					Q96RG7	Missense_Mutation	SNP	ENST00000383263.5	37	c.481C>A	CCDS10031.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999279	0.54147	.	.	ENSG00000184984	ENST00000383263	T	0.72051	-0.62	5.54	4.61	0.57282	GPCR, rhodopsin-like superfamily (1);	0.071597	0.53938	D	0.000046	T	0.71213	0.3313	N	0.20328	0.56	0.49130	D	0.999759	D	0.56035	0.974	D	0.74348	0.983	T	0.71945	-0.4439	10	0.59425	D	0.04	-19.4063	10.4296	0.44400	0.0:0.8026:0.0:0.1974	.	161	P08912	ACM5_HUMAN	I	161	ENSP00000372750:L161I	ENSP00000372750:L161I	L	+	1	0	CHRM5	32142691	0.384000	0.25164	1.000000	0.80357	0.998000	0.95712	0.343000	0.19944	2.880000	0.98712	0.650000	0.86243	CTC		0.547	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2			4	117	1	0	0.00024832	0.009096	0.00033368	4	117					A	34355399	C	A	34355399	3	1	49	1	0	0	0	0	1	0	0	0	3380	681	24	4	483	4	CHRM5	15	34355399	Missense_Mutation	SNP	C	TCGA-CE-A3ME-01A-11D-A20C-08		34355399	68175993	12	1202											
CLPX	10845	broad.mit.edu	37	chr15	65459053	65459053	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggttctttaattatgcttttCtttgagtctgcttcagatag	8	6	4	2			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr15:65459053C>T	ENST00000300107.3	-	4	617	c.429G>A	c.(427-429)aaG>aaA	p.K143K		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	143					ATP catabolic process (GO:0006200)|positive regulation of peptidase activity (GO:0010952)|protein folding (GO:0006457)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial endopeptidase Clp complex (GO:0009841)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|metal ion binding (GO:0046872)|peptidase activator activity (GO:0016504)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						TTATGCTTTTCTTTGAGTCTG	0.393																																						ENST00000300107.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						c.(427-429)aaG>aaA		caseinolytic mitochondrial matrix peptidase chaperone subunit							170	165	166					15																	65459053		2202	4299	6501	SO:0001819	synonymous_variant	10845				protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding	g.chr15:65459053C>T	AJ006267	CCDS10202.1	15q22.31	2013-09-12	2013-09-12		ENSG00000166855	ENSG00000166855		"ATPases / AAA-type"	2088	protein-coding gene	gene with protein product		615611	"ClpX (caseinolytic protease X, E. coli) homolog", "ClpX caseinolytic protease X homolog (E. coli)", "ClpX caseinolytic peptidase X homolog (E. coli)"			22841477	Standard	NM_006660		Approved		uc002aom.3	O76031	OTTHUMG00000133139	ENST00000300107.3:c.429G>A	15.37:g.65459053C>T							p.K143K	NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN			4	617	-			143					A1L428|A8K8F1|B9EGI8|Q9H4D9	Silent	SNP	ENST00000300107.3	37	c.429G>A	CCDS10202.1																																																																																				0.393	CLPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256828.2	NM_006660		3	110	0	0	0	0.115264	0	3	110					T	65459053	C	T	65459053	2	4	49	1	0	0	0	0	0	0	0	1	3556	912	32	2		2	CLPX	15	65459053	Silent	SNP	C	TCGA-CE-A3ME-01A-11D-A20C-08	31103654	65459053	37072339	13	1203											
ST8SIA2	8128	broad.mit.edu	37	chr15	93007535	93007535	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagcccgcataccatgcccTtggagtttaaggccctcaag	9	15	1	0			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr15:93007535T>C	ENST00000268164.3	+	6	1285	c.1048T>C	c.(1048-1050)Ttg>Ctg	p.L350L	ST8SIA2_ENST00000539113.1_Silent_p.L329L	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	350					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			TACCATGCCCTTGGAGTTTAA	0.577																																						ENST00000268164.3																			0				endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20						c.(1048-1050)Ttg>Ctg		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2							95	88	90					15																	93007535		2198	4298	6496	SO:0001819	synonymous_variant	8128				axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr15:93007535T>C	U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"Sialyltransferases"	10870	protein-coding gene	gene with protein product		602546	"sialyltransferase 8 (alpha-2, 8-sialytransferase) B"	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.1048T>C	15.37:g.93007535T>C						ST8SIA2_ENST00000539113.1_Silent_p.L329L	p.L350L	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)		6	1285	+	Lung NSC(78;0.0893)|all_lung(78;0.125)		350					Q4VAZ0|Q92470|Q92746	Silent	SNP	ENST00000268164.3	37	c.1048T>C	CCDS10372.1																																																																																				0.577	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313526.1	NM_006011		3	172	0	0	0	0.009096	0	3	172					C	93007535	T	C	93007535	2	2	49	1	0	0	0	0	0	0	0	1	15231	1606	56	3		3	ST8SIA2	15	93007535	Silent	SNP	T	TCGA-CE-A3ME-01A-11D-A20C-08	27548482	93007535	9523857	14	1204											
ABR	29	broad.mit.edu	37	chr17	995059	995059	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggtgagcacgggctgggagGtggtggcggtggccttcagg	22	7	1	1			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr17:995059G>T	ENST00000302538.5	-	4	523	c.377C>A	c.(376-378)aCc>aAc	p.T126N	ABR_ENST00000574437.1_Missense_Mutation_p.T80N|ABR_ENST00000291107.2_Missense_Mutation_p.T89N|ABR_ENST00000544583.2_Missense_Mutation_p.T80N	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	126	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GGGCTGGGAGGTGGTGGCGGT	0.572																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	ENST00000544583.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(238-240)aCc>aAc		active BCR-related							138	131	134					17																	995059		2203	4300	6503	SO:0001583	missense	29				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr17:995059G>T	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	81	protein-coding gene	gene with protein product		600365	"active BCR-related gene"			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.377C>A	17.37:g.995059G>T	ENSP00000303909:p.Thr126Asn					ABR_ENST00000574437.1_Missense_Mutation_p.T80N|ABR_ENST00000302538.5_Missense_Mutation_p.T126N|ABR_ENST00000291107.2_Missense_Mutation_p.T89N	p.T80N	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	4	838	-			126					B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	ENST00000302538.5	37	c.239C>A	CCDS10999.1	.	.	.	.	.	.	.	.	.	.	G	34	5.395796	0.96009	.	.	ENSG00000159842	ENST00000302538;ENST00000544583;ENST00000291107;ENST00000382259	T;T;T	0.21932	2.01;2.02;1.98	6.04	6.04	0.98038	Dbl homology (DH) domain (5);	0.045312	0.85682	D	0.000000	T	0.49287	0.1548	M	0.70787	2.145	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.91635	0.995;0.999;0.994;0.99	T	0.41592	-0.9500	10	0.87932	D	0	.	19.1586	0.93522	0.0:0.0:1.0:0.0	.	80;10;89;126	B3KW89;Q6ZT60;Q12979-2;Q12979	.;.;.;ABR_HUMAN	N	126;80;89;10	ENSP00000303909:T126N;ENSP00000442048:T80N;ENSP00000291107:T89N	ENSP00000291107:T89N	T	-	2	0	ABR	941809	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.912000	0.87465	2.873000	0.98535	0.563000	0.77884	ACC		0.572	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			19	203	1	0	0.000295444	0.069288	0.000384972	19	203					T	995059	G	T	995059	3	4	49	1	0	0	0	0	1	0	0	0	99	1261	44	4	2282	4	ABR	17	995059	Missense_Mutation	SNP	G	TCGA-CE-A3ME-01A-11D-A20C-08		995059	80200151	15	1205											
SMTNL2	342527	broad.mit.edu	37	chr17	4510712	4510712	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacatgatggtgatgggccGcaagccggaccccatgtgtg	16	10	0	2			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr17:4510712G>A	ENST00000389313.4	+	8	1383	c.1316G>A	c.(1315-1317)cGc>cAc	p.R439H	SMTNL2_ENST00000338859.4_Missense_Mutation_p.R295H	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	439	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.									breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		GTGATGGGCCGCAAGCCGGAC	0.582																																						ENST00000389313.4																			0				breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13						c.(1315-1317)cGc>cAc		smoothelin-like 2							166	156	160					17																	4510712		2203	4300	6503	SO:0001583	missense	342527							g.chr17:4510712G>A	AK124452	CCDS11048.1, CCDS45583.1	17p13.2	2006-04-26			ENSG00000188176	ENSG00000188176			24764	protein-coding gene	gene with protein product							Standard	NM_001114974		Approved	FLJ42461	uc002fyf.1	Q2TAL5	OTTHUMG00000132938	ENST00000389313.4:c.1316G>A	17.37:g.4510712G>A	ENSP00000373964:p.Arg439His					SMTNL2_ENST00000338859.4_Missense_Mutation_p.R295H	p.R439H	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN		READ - Rectum adenocarcinoma(115;0.0325)	8	1383	+			439			CH.		Q6ZVK6	Missense_Mutation	SNP	ENST00000389313.4	37	c.1316G>A	CCDS45583.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.579375	0.46006	.	.	ENSG00000188176	ENST00000338859;ENST00000389313	D;D	0.81908	-1.55;-1.55	5.18	3.18	0.36537	Calponin homology domain (5);	.	.	.	.	T	0.70046	0.3179	L	0.28115	0.83	0.36226	D	0.852296	P	0.38440	0.631	B	0.35312	0.2	T	0.72357	-0.4318	9	0.35671	T	0.21	-16.6464	9.2698	0.37664	0.1765:0.0:0.8235:0.0	.	439	Q2TAL5	SMTL2_HUMAN	H	295;439	ENSP00000345143:R295H;ENSP00000373964:R439H	ENSP00000345143:R295H	R	+	2	0	SMTNL2	4457461	0.000000	0.05858	1.000000	0.80357	0.980000	0.70556	0.347000	0.20014	1.331000	0.45412	-0.140000	0.14226	CGC		0.582	SMTNL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439129.1	NM_198501		5	293	0	0	0	0.021553	0	5	293					A	4510712	G	A	4510712	3	1	49	1	0	0	0	0	1	0	0	0	14816	1087	38	1	1346	1	SMTNL2	17	4510712	Missense_Mutation	SNP	G	TCGA-CE-A3ME-01A-11D-A20C-08	3515653	4510712	76684498	16	1206											
MYH8	4626	broad.mit.edu	37	chr17	10318635	10318635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggagttgtcattcctcaCagttttggcattgccaaagg	11	8	2	1			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr17:10318635C>T	ENST00000403437.2	-	8	809	c.715G>A	c.(715-717)Gtg>Atg	p.V239M	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	239	Myosin motor.				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						TCATTCCTCACAGTTTTGGCA	0.478									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.(715-717)Gtg>Atg		myosin, heavy chain 8, skeletal muscle, perinatal							136	139	138					17																	10318635		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.chr17:10318635C>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.715G>A	17.37:g.10318635C>T	ENSP00000384330:p.Val239Met					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.V239M	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			8	809	-			239			Myosin head-like.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.715G>A	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569566	0.65765	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.88509	-2.39	4.14	4.14	0.48551	Myosin head, motor domain (3);	0.000000	0.37577	U	0.002030	D	0.94666	0.8280	M	0.90252	3.1	0.47511	D	0.99944	P	0.41978	0.767	P	0.56163	0.793	D	0.95916	0.8927	10	0.87932	D	0	.	16.9389	0.86210	0.0:1.0:0.0:0.0	.	239	P13535	MYH8_HUMAN	M	239	ENSP00000384330:V239M	ENSP00000252173:V239M	V	-	1	0	MYH8	10259360	0.905000	0.30787	0.950000	0.38849	0.916000	0.54674	1.882000	0.39648	2.308000	0.77769	0.591000	0.81541	GTG		0.478	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		60	85	0	0	0	0.139131	0	60	85					T	10318635	C	T	10318635	3	4	49	1	0	0	0	0	1	0	0	0	10041	478	17	2	5230	2	MYH8	17	10318635	Missense_Mutation	SNP	C	TCGA-CE-A3ME-01A-11D-A20C-08	5807923	10318635	70876575	17	1207											
MED1	5469	broad.mit.edu	37	chr17	37563979	37563979	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttcttttcctttttgtgctTcttatgtttctctgtgctgt	6	9	3	0			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr17:37563979T>A	ENST00000300651.6	-	17	4718	c.4495A>T	c.(4495-4497)Aag>Tag	p.K1499*	MED1_ENST00000394287.3_Intron|CTB-131K11.1_ENST00000582842.1_RNA	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TTTTTGTGCTTCTTATGTTTC	0.438										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6																			0				NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.(4495-4497)Aag>Tag		mediator complex subunit 1							115	103	107					17																	37563979		2203	4300	6503	SO:0001587	stop_gained	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37563979T>A	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"PPAR binding protein"	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.4495A>T	17.37:g.37563979T>A	ENSP00000300651:p.Lys1499*	HNSCC(31;0.082)				MED1_ENST00000394287.3_Intron	p.K1499*	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	4718	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	1499			Lys-rich.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Nonsense_Mutation	SNP	ENST00000300651.6	37	c.4495A>T	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	T	41	8.936590	0.99008	.	.	ENSG00000125686	ENST00000300651	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.2847	14.9521	0.71083	0.0:0.0:0.0:1.0	.	.	.	.	X	1499	.	ENSP00000300651:K1499X	K	-	1	0	MED1	34817505	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.792000	0.85828	2.174000	0.68829	0.459000	0.35465	AAG		0.438	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		4	35	0	0	0	0.021553	0	4	35					A	37563979	T	A	37563979	4	1	49	1	0	0	0	0	0	1	0	0	9425	1792	62	5	254	5	MED1	17	37563979	Nonsense_Mutation	SNP	T	TCGA-CE-A3ME-01A-11D-A20C-08	27245344	37563979	43631231	18	1208											
MUC16	94025	broad.mit.edu	37	chr19	9090831	9090831	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttagtgtcatggaaaaAgggatagctgagttgggcat	14	4	1	1			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(982-984)ccT>ccC		mucin 16, cell surface associated							96	95	96					19																	9090831		2041	4195	6236	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090831A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.984T>C	19.37:g.9090831A>G							p.P328P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	1187	-			328			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.984T>C	CCDS54212.1																																																																																				0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		3	100	0	0	0	0.115264	0	3	100					G	9090831	A	G	9090831	2	3	49	1	0	0	0	0	0	0	0	1	9973	59	3	3		3	MUC16	19	9090831	Silent	SNP	A	TCGA-CE-A3ME-01A-11D-A20C-08		9090831	50038152	19	1209											
MAST1	22983	broad.mit.edu	37	chr19	12962967	12962967	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctaccacctgctggaggcGgccgaaggacacgccaagga	13	13	1	0			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr19:12962967G>A	ENST00000251472.4	+	9	954	c.915G>A	c.(913-915)gcG>gcA	p.A305A	MAST1_ENST00000591495.1_Silent_p.A301A	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TGCTGGAGGCGGCCGAAGGAC	0.652																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(913-915)gcG>gcA		microtubule associated serine/threonine kinase 1							57	64	62					19																	12962967		2203	4300	6503	SO:0001819	synonymous_variant	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12962967G>A	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.915G>A	19.37:g.12962967G>A						MAST1_ENST00000591495.1_Silent_p.A301A	p.A305A	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			9	954	+			305						Silent	SNP	ENST00000251472.4	37	c.915G>A	CCDS32921.1																																																																																				0.652	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		7	170	0	0	0	0.038147	0	7	170					A	12962967	G	A	12962967	2	1	49	1	0	0	0	0	0	0	0	1	9324	1103	39	1		1	MAST1	19	12962967	Silent	SNP	G	TCGA-CE-A3ME-01A-11D-A20C-08	3872136	12962967	46166016	20	1210											
SNRNP70	6625	broad.mit.edu	37	chr19	49589800	49589800	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttattgtggcattgcgccGtacattcgagagtttgaggt	12	8	0	2			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr19:49589800G>A	ENST00000598441.1	+	2	353	c.129G>A	c.(127-129)ccG>ccA	p.P43P	SNRNP70_ENST00000221448.5_Silent_p.P43P			P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	43					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						GCATTGCGCCGTACATTCGAG	0.532																																						ENST00000221448.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						c.(127-129)ccG>ccA		small nuclear ribonucleoprotein 70kDa (U1)							219	212	215					19																	49589800		2203	4300	6503	SO:0001819	synonymous_variant	6625				nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr19:49589800G>A		CCDS12756.1, CCDS74417.1	19q13.3	2013-02-12	2008-10-29	2008-10-29		ENSG00000104852		"RNA binding motif (RRM) containing"	11150	protein-coding gene	gene with protein product		180740	"small nuclear ribonucleoprotein 70kDa (RNP antigen)"	RNPU1Z, RPU1, SNRP70			Standard	XM_005259177		Approved	U1-70K, Snp1	uc021uxh.1	P08621		ENST00000598441.1:c.129G>A	19.37:g.49589800G>A						SNRNP70_ENST00000598441.1_Silent_p.P43P	p.P43P	NM_003089.4	NP_003080.2	P08621	RU17_HUMAN			2	325	+			43					B3KUA3|P78493|P78494|Q15364|Q15686|Q15687|Q15689|Q99377|Q9UE45|Q9UE46|Q9UE47|Q9UE48|Q9UFQ6	Silent	SNP	ENST00000598441.1	37	c.129G>A	CCDS12756.1																																																																																				0.532	SNRNP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466266.1	NM_003089		6	429	0	0	0	0.02938	0	6	429					A	49589800	G	A	49589800	2	1	49	1	0	0	0	0	0	0	0	1	14858	1132	40	1		1	SNRNP70	19	49589800	Silent	SNP	G	TCGA-CE-A3ME-01A-11D-A20C-08	36626833	49589800	9539183	21	1211											
CABIN1	23523	broad.mit.edu	37	chr22	24445595	24445595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctttggagaaggattgccGgtacagcaaagggctggtcc	15	8	0	1			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr22:24445595G>A	ENST00000398319.2	+	7	954	c.569G>A	c.(568-570)cGg>cAg	p.R190Q	CABIN1_ENST00000405822.2_Missense_Mutation_p.R190Q|CABIN1_ENST00000263119.5_Missense_Mutation_p.R190Q	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	190					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.R190L(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AAGGATTGCCGGTACAGCAAA	0.502																																						ENST00000398319.2																			1	Substitution - Missense(1)	p.R190L(1)	lung(1)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(568-570)cGg>cAg		calcineurin binding protein 1							110	108	109					22																	24445595		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24445595G>A	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.569G>A	22.37:g.24445595G>A	ENSP00000381364:p.Arg190Gln					CABIN1_ENST00000405822.2_Missense_Mutation_p.R190Q|CABIN1_ENST00000263119.5_Missense_Mutation_p.R190Q	p.R190Q	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			7	954	+			190					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.569G>A	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791200	0.50102	.	.	ENSG00000099991	ENST00000454754;ENST00000263119;ENST00000405822;ENST00000445422;ENST00000398319;ENST00000536026	T;T;T;T;T	0.60548	0.53;0.18;1.2;0.53;0.18	5.26	4.24	0.50183	Tetratricopeptide-like helical (1);	0.338397	0.35151	N	0.003408	T	0.30541	0.0768	N	0.08118	0	0.80722	D	1	B;B;B;B	0.18968	0.001;0.032;0.014;0.017	B;B;B;B	0.09377	0.001;0.003;0.004;0.002	T	0.16335	-1.0406	10	0.12103	T	0.63	.	8.3701	0.32410	0.0833:0.0:0.7498:0.1669	.	145;190;190;190	C9J068;F5H5W5;G5E9F3;Q9Y6J0	.;.;.;CABIN_HUMAN	Q	145;190;190;145;190;190	ENSP00000394209:R145Q;ENSP00000263119:R190Q;ENSP00000384694:R190Q;ENSP00000412389:R145Q;ENSP00000381364:R190Q	ENSP00000263119:R190Q	R	+	2	0	CABIN1	22775595	0.667000	0.27484	0.984000	0.44739	0.977000	0.68977	1.753000	0.38359	2.638000	0.89438	0.502000	0.49764	CGG		0.502	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		4	168	0	0	0	0.009096	0	4	168					A	24445595	G	A	24445595	3	1	49	1	0	0	0	0	1	0	0	0	2528	1116	39	1	591	1	CABIN1	22	24445595	Missense_Mutation	SNP	G	TCGA-CE-A3ME-01A-11D-A20C-08		24445595	26858971	22	1212											
MAGEA6	4105	broad.mit.edu	37	chrX	151869749	151869749	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcggaaattggcagtacttcTttcctgtgatcttcagcaaa	8	9	3	1			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chrX:151869749T>A	ENST00000329342.5	+	3	664	c.439T>A	c.(439-441)Ttt>Att	p.F147I		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	147	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGTACTTCTTTCCTGTGAT	0.527																																						ENST00000329342.5																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28						c.(439-441)Ttt>Att		melanoma antigen family A, 6							158	141	147					X																	151869749		2202	4300	6502	SO:0001583	missense	4105						protein binding	g.chrX:151869749T>A		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"MAGE-6 antigen", "melanoma-associated antigen 6", "melanoma antigen family A 6", "cancer/testis antigen family 1, member 6"	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.439T>A	X.37:g.151869749T>A	ENSP00000329199:p.Phe147Ile						p.F147I	NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN			3	664	+	Acute lymphoblastic leukemia(192;6.56e-05)		147			MAGE.		A8IF93|Q6NW44	Missense_Mutation	SNP	ENST00000329342.5	37	c.439T>A	CCDS14708.1	.	.	.	.	.	.	.	.	.	.	t	12.60	1.987490	0.35036	.	.	ENSG00000197172	ENST00000329342;ENST00000412733;ENST00000457643	T;T;T	0.06933	3.24;3.24;3.24	0.605	0.605	0.17553	.	.	.	.	.	T	0.33760	0.0874	M	0.93550	3.43	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.05370	-1.0889	8	0.87932	D	0	.	.	.	.	.	147	P43360	MAGA6_HUMAN	I	147	ENSP00000329199:F147I;ENSP00000403303:F147I;ENSP00000401806:F147I	ENSP00000329199:F147I	F	+	1	0	MAGEA6	151620405	0.000000	0.05858	0.004000	0.12327	0.025000	0.11179	0.306000	0.19279	0.476000	0.27440	0.151000	0.16131	TTT		0.527	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		4	197	0	0	0	0.014758	0	4	197					A	151869749	T	A	151869749	3	1	49	1	0	0	0	0	1	0	0	0	9170	1609	56	5	441	5	MAGEA6	23	151869749	Missense_Mutation	SNP	T	TCGA-CE-A3ME-01A-11D-A20C-08		151869749	3400811	23	1213											
L1CAM	3897	broad.mit.edu	37	chrX	153129444	153129444	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgaaccagccctcagtggcGaagccagcaggagggagcct	14	12	1	1			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chrX:153129444G>A	ENST00000370060.1	-	26	3540	c.3351C>T	c.(3349-3351)ttC>ttT	p.F1117F	L1CAM_ENST00000361699.4_Silent_p.F1117F|L1CAM_ENST00000538883.1_Silent_p.F1119F|L1CAM_ENST00000543994.1_Silent_p.F1119F|L1CAM_ENST00000361981.3_Silent_p.F1112F|L1CAM_ENST00000370057.3_Silent_p.F1117F|L1CAM_ENST00000370055.1_Silent_p.F1112F	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1117				GF -> WLC (in Ref. 13; no nucleotide entry). {ECO:0000305}.	axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTCAGTGGCGAAGCCAGCAG	0.632																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(3349-3351)ttC>ttT		L1 cell adhesion molecule							62	52	56					X																	153129444		2203	4299	6502	SO:0001819	synonymous_variant	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153129444G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.3351C>T	X.37:g.153129444G>A						L1CAM_ENST00000543994.1_Silent_p.F1119F|L1CAM_ENST00000538883.1_Silent_p.F1119F|L1CAM_ENST00000361699.4_Silent_p.F1117F|L1CAM_ENST00000361981.3_Silent_p.F1112F|L1CAM_ENST00000370055.1_Silent_p.F1112F|L1CAM_ENST00000370057.3_Silent_p.F1117F	p.F1117F	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			26	3540	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1117	GF -> WLC (in Ref. 11).				A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Silent	SNP	ENST00000370060.1	37	c.3351C>T	CCDS14733.1																																																																																				0.632	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		3	51	0	0	0	0.014758	0	3	51					A	153129444	G	A	153129444	2	1	49	1	0	0	0	0	0	0	0	1	8588	1049	37	1		1	L1CAM	23	153129444	Silent	SNP	G	TCGA-CE-A3ME-01A-11D-A20C-08	1259695	153129444	2141116	24	1214											
AMPD2	271	broad.mit.edu	37	chr1	110170707	110170707	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgccctgttccattccaggtGgacacccacatccatgcctc	7	17	0	0			TCGA-CE-A481-01A-21D-A23U-08	TCGA-CE-A481-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d410fec-2a49-4f9d-a430-c8680f20d3e8	168556c4-5ce6-4d1d-aa78-4be965e6225f	g.chr1:110170707G>T	ENST00000256578.3	+	10	1605	c.1245G>T	c.(1243-1245)gtG>gtT	p.V415V	AMPD2_ENST00000528454.1_Silent_p.V297V|AMPD2_ENST00000358729.4_Silent_p.V340V|AMPD2_ENST00000342115.4_Silent_p.V334V|AMPD2_ENST00000528667.1_Silent_p.V415V|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000393688.3_Silent_p.V296V|RP5-1160K1.6_ENST00000369843.3_RNA	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	415					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CATTCCAGGTGGACACCCACA	0.597																																						ENST00000256578.3																			0				breast(1)|large_intestine(3)|ovary(2)|skin(1)	7						c.(1243-1245)gtG>gtT		adenosine monophosphate deaminase 2							61	56	58					1																	110170707		2203	4300	6503	SO:0001819	synonymous_variant	271				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:110170707G>T	S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"AMPD isoform L"	102771	"adenosine monophosphate deaminase 2 (isoform L)"			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.1245G>T	1.37:g.110170707G>T						AMPD2_ENST00000342115.4_Silent_p.V334V|AMPD2_ENST00000528667.1_Silent_p.V415V|AMPD2_ENST00000393688.3_Silent_p.V296V|AMPD2_ENST00000358729.4_Silent_p.V340V|AMPD2_ENST00000528454.1_Silent_p.V297V|AMPD2_ENST00000526301.1_3'UTR	p.V415V	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)	10	1605	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	415					B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Silent	SNP	ENST00000256578.3	37	c.1245G>T	CCDS805.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.670446	0.47781	.	.	ENSG00000116337	ENST00000369840	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-38.7315	17.3138	0.87217	0.0:0.0:1.0:0.0	.	.	.	.	X	386	.	.	G	+	1	0	AMPD2	109972230	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.396000	0.66297	2.634000	0.89283	0.561000	0.74099	GGA		0.597	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1			3	33	1	0	0.115264	1	0.118379	3	33					T	110170707	G	T	110170707	2	4	50	1	0	0	0	0	0	0	0	1	586	1335	47	4		4	AMPD2	1	110170707	Silent	SNP	G	TCGA-CE-A481-01A-21D-A23U-08		110170707	139079914	1	1215											
RFTN1	23180	broad.mit.edu	37	chr3	16368297	16368297	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctggtagtcttgacgacGggagttggtagcacacaggt	14	8	1	1	rs139132308		TCGA-CE-A481-01A-21D-A23U-08	TCGA-CE-A481-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d410fec-2a49-4f9d-a430-c8680f20d3e8	168556c4-5ce6-4d1d-aa78-4be965e6225f	g.chr3:16368297G>A	ENST00000334133.4	-	8	1505	c.1233C>T	c.(1231-1233)ccC>ccT	p.P411P	OXNAD1_ENST00000544043.1_Intron|OXNAD1_ENST00000606098.1_Intron|RFTN1_ENST00000483671.1_5'UTR|OXNAD1_ENST00000435829.2_Intron|OXNAD1_ENST00000605932.1_Intron|RFTN1_ENST00000432519.1_Silent_p.P375P	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	411					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						TCTTGACGACGGGAGTTGGTA	0.512																																						ENST00000334133.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						c.(1231-1233)ccC>ccT		raftlin, lipid raft linker 1		G		0,4406		0,0,2203	61	53	56		1233	-10.1	0.0	3	dbSNP_134	56	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	RFTN1	NM_015150.1		0,6,6497	AA,AG,GG		0.0698,0.0,0.0461		411/579	16368297	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	23180					plasma membrane		g.chr3:16368297G>A	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"raft-linking protein"					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.1233C>T	3.37:g.16368297G>A						RFTN1_ENST00000432519.1_Silent_p.P375P|OXNAD1_ENST00000606098.1_Intron|OXNAD1_ENST00000605932.1_Intron|OXNAD1_ENST00000544043.1_Intron|RFTN1_ENST00000483671.1_5'UTR|OXNAD1_ENST00000435829.2_Intron	p.P411P	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN			8	1505	-			411					Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Silent	SNP	ENST00000334133.4	37	c.1233C>T	CCDS33712.1																																																																																				0.512	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150		3	29	0	0	0	1	0	3	29					A	16368297	G	A	16368297	2	1	50	1	0	0	0	0	0	0	0	1	13258	1103	39	1		1	RFTN1	3	16368297	Silent	SNP	G	TCGA-CE-A481-01A-21D-A23U-08		16368297	181654133	2	1216											
MED12L	116931	broad.mit.edu	37	chr3	151107898	151107898	+	Silent	SNP	C	C	T													ccccagcagcccggctttttCcttcagaaccaatctcttac							TCGA-CE-A481-01A-21D-A23U-08	TCGA-CE-A481-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d410fec-2a49-4f9d-a430-c8680f20d3e8	168556c4-5ce6-4d1d-aa78-4be965e6225f	g.chr3:151107898C>T	ENST00000474524.1	+	36	5516	c.5478C>T	c.(5476-5478)ttC>ttT	p.F1826F	MED12L_ENST00000273432.4_Silent_p.F1686F	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1826						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCGGCTTTTTCCTTCAGAACC	0.493																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(5476-5478)ttC>ttT		mediator complex subunit 12-like							142	155	151					3																	151107898		2203	4300	6503	SO:0001819	synonymous_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151107898C>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5478C>T	3.37:g.151107898C>T						MED12L_ENST00000273432.4_Silent_p.F1686F	p.F1826F	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		36	5516	+			1826					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	c.5478C>T	CCDS33876.1																																																																																				0.493	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		35	126	0	0	0	1	0	35	126					T	151107898	C	T	151107898	2	4	50	1	0	0	0	0	0	0	0	1	9429	854	30	2		2	MED12L	3	151107898	Silent	SNP	C	TCGA-CE-A481-01A-21D-A23U-08	134739601	151107898	46914532	3	1217	5	2									
MED12L	116931	broad.mit.edu	37	chr3	151107899	151107899	+	Missense_Mutation	SNP	C	C	A													cccagcagcccggctttttcCttcagaaccaatctcttact							TCGA-CE-A481-01A-21D-A23U-08	TCGA-CE-A481-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d410fec-2a49-4f9d-a430-c8680f20d3e8	168556c4-5ce6-4d1d-aa78-4be965e6225f	g.chr3:151107899C>A	ENST00000474524.1	+	36	5517	c.5479C>A	c.(5479-5481)Ctt>Att	p.L1827I	MED12L_ENST00000273432.4_Missense_Mutation_p.L1687I	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1827						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CGGCTTTTTCCTTCAGAACCA	0.488																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(5479-5481)Ctt>Att		mediator complex subunit 12-like							141	154	150					3																	151107899		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151107899C>A	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5479C>A	3.37:g.151107899C>A	ENSP00000417235:p.Leu1827Ile					MED12L_ENST00000273432.4_Missense_Mutation_p.L1687I	p.L1827I	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		36	5517	+			1827					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.5479C>A	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.270863	0.23221	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.59906	0.42;0.23	5.75	4.88	0.63580	Mediator complex, subunit Med12, catenin-binding (1);	0.329452	0.30575	N	0.009339	T	0.47710	0.1460	L	0.51422	1.61	0.27715	N	0.94532	B;B	0.24426	0.103;0.013	B;B	0.20955	0.022;0.032	T	0.38308	-0.9667	10	0.27082	T	0.32	-13.7863	8.739	0.34545	0.0:0.7248:0.1938:0.0814	.	1687;1827	F8WAE6;Q86YW9	.;MD12L_HUMAN	I	1827;1687	ENSP00000417235:L1827I;ENSP00000273432:L1687I	ENSP00000273432:L1687I	L	+	1	0	MED12L	152590589	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	2.871000	0.48459	1.433000	0.47394	-0.136000	0.14681	CTT		0.488	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		36	127	1	0	3.28013e-08	1	3.77712e-08	36	127					A	151107899	C	A	151107899	3	1	50	1	0	0	0	0	1	0	0	0	9429	681	24	4	5621	4	MED12L	3	151107899	Missense_Mutation	SNP	C	TCGA-CE-A481-01A-21D-A23U-08	1	151107899	46914531	4	1218	5	2									
BCHE	590	broad.mit.edu	37	chr3	165548145	165548145	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	taactgaagctgctcctgcaCtttctccaaagagagttaca	7	11	1	2			TCGA-CE-A481-01A-21D-A23U-08	TCGA-CE-A481-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d410fec-2a49-4f9d-a430-c8680f20d3e8	168556c4-5ce6-4d1d-aa78-4be965e6225f	g.chr3:165548145C>G	ENST00000264381.3	-	2	843	c.677G>C	c.(676-678)aGt>aCt	p.S226T	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	226			S -> G (in BChE deficiency; enzymatically inactive in the plasma). {ECO:0000269|PubMed:8554068}.		cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	TGCTCCTGCACTTTCTCCAAA	0.428																																						ENST00000264381.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55						c.(676-678)aGt>aCt		butyrylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						84	88	87					3																	165548145		2203	4300	6503	SO:0001583	missense	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165548145C>G	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"cholinesterase 1", "cholinesterase (serum) 2"	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.677G>C	3.37:g.165548145C>G	ENSP00000264381:p.Ser226Thr					BCHE_ENST00000540653.1_Intron	p.S226T	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN			2	843	-			226		S -> G (in BChE deficiency; enzymatically inactive in the plasma).			A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.677G>C	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.105764	0.77096	.	.	ENSG00000114200	ENST00000264381	D	0.99722	-6.53	5.71	5.71	0.89125	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	D	0.99889	0.9947	H	0.99682	4.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96227	0.9165	10	0.87932	D	0	.	18.8514	0.92232	0.0:1.0:0.0:0.0	.	226	P06276	CHLE_HUMAN	T	226	ENSP00000264381:S226T	ENSP00000264381:S226T	S	-	2	0	BCHE	167030839	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.921000	0.70028	2.699000	0.92147	0.655000	0.94253	AGT		0.428	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			14	28	0	0	0	1	0	14	28					G	165548145	C	G	165548145	3	3	50	1	0	0	0	0	1	0	0	0	1358	565	20	4	1143	4	BCHE	3	165548145	Missense_Mutation	SNP	C	TCGA-CE-A481-01A-21D-A23U-08	14440246	165548145	32474285	5	1219											
PKHD1	5314	broad.mit.edu	37	chr6	51640611	51640611	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atattatactcttaccaattGttcctgggtcaatatgaatt	5	7	2	1			TCGA-CE-A481-01A-21D-A23U-08	TCGA-CE-A481-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d410fec-2a49-4f9d-a430-c8680f20d3e8	168556c4-5ce6-4d1d-aa78-4be965e6225f	g.chr6:51640611G>T	ENST00000371117.3	-	54	8824	c.8549C>A	c.(8548-8550)aCa>aAa	p.T2850K	PKHD1_ENST00000340994.4_Missense_Mutation_p.T2850K	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2850	G8 2. {ECO:0000255|PROSITE- ProRule:PRU00817}.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTTACCAATTGTTCCTGGGTC	0.338																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(8548-8550)aCa>aAa		polycystic kidney and hepatic disease 1 (autosomal recessive)							58	59	58					6																	51640611		2203	4298	6501	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51640611G>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.8549C>A	6.37:g.51640611G>T	ENSP00000360158:p.Thr2850Lys					PKHD1_ENST00000340994.4_Missense_Mutation_p.T2850K	p.T2850K	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			54	8824	-	Lung NSC(77;0.0605)		2850			G8 2.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.8549C>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.380670	0.61845	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.89343	-2.5;-2.5	5.63	4.73	0.59995	G8 domain (2);	0.306562	0.32578	N	0.005904	D	0.87708	0.6245	M	0.62723	1.935	0.31807	N	0.627626	D;D;P	0.64830	0.994;0.96;0.786	P;P;P	0.60236	0.871;0.648;0.484	D	0.86424	0.1756	10	0.59425	D	0.04	.	7.2401	0.26092	0.0986:0.1834:0.718:0.0	.	2850;2850;2850	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	K	2850	ENSP00000360158:T2850K;ENSP00000341097:T2850K	ENSP00000341097:T2850K	T	-	2	0	PKHD1	51748570	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	1.453000	0.35167	1.307000	0.44944	0.313000	0.20887	ACA		0.338	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		12	26	1	0	2.27111e-07	1	2.5383e-07	12	26					T	51640611	G	T	51640611	3	4	50	1	0	0	0	0	1	0	0	0	11971	1377	48	4	3770	4	PKHD1	6	51640611	Missense_Mutation	SNP	G	TCGA-CE-A481-01A-21D-A23U-08		51640611	119474456	6	1220											
TIAM2	26230	broad.mit.edu	37	chr6	155569295	155569295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgacggaccaggagagcgagGagcactaccacctgacgggt	15	11	0	3	rs370206661		TCGA-CE-A481-01A-21D-A23U-08	TCGA-CE-A481-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d410fec-2a49-4f9d-a430-c8680f20d3e8	168556c4-5ce6-4d1d-aa78-4be965e6225f	g.chr6:155569295G>A	ENST00000461783.3	+	22	5087	c.3814G>A	c.(3814-3816)Gag>Aag	p.E1272K	TIAM2_ENST00000529824.2_Missense_Mutation_p.E1272K|TIAM2_ENST00000456144.1_Missense_Mutation_p.E1272K|TIAM2_ENST00000367174.2_Missense_Mutation_p.E648K|TIAM2_ENST00000528391.2_Missense_Mutation_p.E608K|TIAM2_ENST00000360366.4_Missense_Mutation_p.E1296K|TIAM2_ENST00000275246.7_Missense_Mutation_p.E197K|TIAM2_ENST00000456877.2_Missense_Mutation_p.E584K|TIAM2_ENST00000318981.5_Missense_Mutation_p.E1272K			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1272	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GGAGAGCGAGGAGCACTACCA	0.687											OREG0017745	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(3814-3816)Gag>Aag		T-cell lymphoma invasion and metastasis 2		G	LYS/GLU,LYS/GLU	0,4406		0,0,2203	38	33	35		589,3814	5.6	1.0	6		35	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TIAM2	NM_001010927.2,NM_012454.3	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	197/627,1272/1702	155569295	1,13005	2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155569295G>A		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.3814G>A	6.37:g.155569295G>A	ENSP00000437188:p.Glu1272Lys		OREG0017745	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1771	TIAM2_ENST00000528391.2_Missense_Mutation_p.E608K|TIAM2_ENST00000360366.4_Missense_Mutation_p.E1296K|TIAM2_ENST00000367174.2_Missense_Mutation_p.E648K|TIAM2_ENST00000318981.5_Missense_Mutation_p.E1272K|TIAM2_ENST00000529824.2_Missense_Mutation_p.E1272K|TIAM2_ENST00000275246.7_Missense_Mutation_p.E197K|TIAM2_ENST00000456877.2_Missense_Mutation_p.E584K|TIAM2_ENST00000456144.1_Missense_Mutation_p.E1272K	p.E1272K			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	22	5087	+		Ovarian(120;0.196)	1272			DH.		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.3814G>A	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.924030	0.92319	0.0	1.16E-4	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246	T;T;T;T;T;T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56	5.64	5.64	0.86602	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.83514	0.5271	M	0.81341	2.54	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.994;0.998;0.995	D	0.83779	0.0224	10	0.54805	T	0.06	.	19.7013	0.96054	0.0:0.0:1.0:0.0	.	608;1272;1296;1272	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	K	1272;1518;1272;1272;1272;648;1296;1272;584;608;197	ENSP00000437188:E1272K;ENSP00000434901:E1272K;ENSP00000407746:E1272K;ENSP00000327315:E1272K;ENSP00000356142:E648K;ENSP00000353528:E1296K;ENSP00000433348:E1272K;ENSP00000407183:E584K;ENSP00000435335:E608K;ENSP00000275246:E197K	ENSP00000275246:E197K	E	+	1	0	TIAM2	155610987	1.000000	0.71417	1.000000	0.80357	0.247000	0.25773	9.869000	0.99810	2.657000	0.90304	0.655000	0.94253	GAG		0.687	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		4	33	0	0	0	1	0	4	33					A	155569295	G	A	155569295	3	1	50	1	0	0	0	0	1	0	0	0	15888	1175	41	2	3880	2	TIAM2	6	155569295	Missense_Mutation	SNP	G	TCGA-CE-A481-01A-21D-A23U-08	103928684	155569295	15545772	7	1221											
FRMPD1	22844	broad.mit.edu	37	chr9	37740357	37740357	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgagtgagtccatggacgCtctggaagaggatgacttag	14	8	1	3			TCGA-CE-A481-01A-21D-A23U-08	TCGA-CE-A481-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d410fec-2a49-4f9d-a430-c8680f20d3e8	168556c4-5ce6-4d1d-aa78-4be965e6225f	g.chr9:37740357C>T	ENST00000539465.1	+	15	2425	c.1832C>T	c.(1831-1833)gCt>gTt	p.A611V	FRMPD1_ENST00000536622.1_Missense_Mutation_p.A433V|FRMPD1_ENST00000541302.1_Missense_Mutation_p.A480V|FRMPD1_ENST00000377765.3_Missense_Mutation_p.A611V|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	611						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TCCATGGACGCTCTGGAAGAG	0.612																																						ENST00000539465.1																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(1831-1833)gCt>gTt		FERM and PDZ domain containing 1							35	34	34					9																	37740357		2201	4298	6499	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37740357C>T	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.1832C>T	9.37:g.37740357C>T	ENSP00000444411:p.Ala611Val					FRMPD1_ENST00000377765.3_Missense_Mutation_p.A611V|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_Missense_Mutation_p.A433V|FRMPD1_ENST00000541302.1_Missense_Mutation_p.A480V	p.A611V			Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	15	2425	+			611					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.1832C>T	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495542	0.85069	.	.	ENSG00000070601	ENST00000377765;ENST00000539465;ENST00000536622;ENST00000541302	T;T;T;T	0.35048	2.13;2.13;1.33;1.39	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.60090	0.2242	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.61540	-0.7042	10	0.72032	D	0.01	-16.8984	17.1242	0.86710	0.0:1.0:0.0:0.0	.	480;611	B4DZC8;Q5SYB0	.;FRPD1_HUMAN	V	611;611;433;480	ENSP00000366995:A611V;ENSP00000444411:A611V;ENSP00000437762:A433V;ENSP00000444804:A480V	ENSP00000366995:A611V	A	+	2	0	FRMPD1	37730357	1.000000	0.71417	0.990000	0.47175	0.455000	0.32408	5.368000	0.66133	2.648000	0.89879	0.561000	0.74099	GCT		0.612	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		9	26	0	0	0	1	0	9	26					T	37740357	C	T	37740357	3	4	50	1	0	0	0	0	1	0	0	0	6057	797	28	2	1886	2	FRMPD1	9	37740357	Missense_Mutation	SNP	C	TCGA-CE-A481-01A-21D-A23U-08		37740357	103473074	8	1222											
AGTPBP1	23287	broad.mit.edu	37	chr9	88207522	88207522	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgataagcaaagtagcaaaCatcatctttatgtggaaaat	8	5	2	1			TCGA-CE-A481-01A-21D-A23U-08	TCGA-CE-A481-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d410fec-2a49-4f9d-a430-c8680f20d3e8	168556c4-5ce6-4d1d-aa78-4be965e6225f	g.chr9:88207522C>A	ENST00000357081.3	-	19	2665	c.2521G>T	c.(2521-2523)Gtt>Ttt	p.V841F	AGTPBP1_ENST00000376083.3_Missense_Mutation_p.V801F|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.V853F|AGTPBP1_ENST00000432218.1_Intron			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	841					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						AAGTAGCAAACATCATCTTTA	0.313																																						ENST00000357081.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						c.(2521-2523)Gtt>Ttt		ATP/GTP binding protein 1							136	139	138					9																	88207522		2203	4298	6501	SO:0001583	missense	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88207522C>A	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 1", "tubulinyl-Tyr carboxypeptidase", "carboxypeptidase-tubulin", "tyrosine carboxypeptidase", "soluble carboxypeptidase"	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.2521G>T	9.37:g.88207522C>A	ENSP00000349592:p.Val841Phe					AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.V801F|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.V853F|AGTPBP1_ENST00000432218.1_Intron	p.V841F			Q9UPW5	CBPC1_HUMAN			19	2665	-			841					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37	c.2521G>T		.	.	.	.	.	.	.	.	.	.	C	30	5.056215	0.93793	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109	T;T;T	0.20598	2.07;2.07;2.06	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.54464	0.1860	M	0.84433	2.695	0.80722	D	1	P;D;D	0.89917	0.723;1.0;0.998	P;D;D	0.81914	0.524;0.995;0.964	T	0.58451	-0.7634	10	0.87932	D	0	-23.8121	20.1935	0.98237	0.0:1.0:0.0:0.0	.	853;841;801	Q9UPW5-3;Q9UPW5;Q9UPW5-2	.;CBPC1_HUMAN;.	F	841;801;853	ENSP00000349592:V841F;ENSP00000365251:V801F;ENSP00000365277:V853F	ENSP00000349592:V841F	V	-	1	0	AGTPBP1	87397342	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.779000	0.95612	0.591000	0.81541	GTT		0.313	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		4	52	1	0	1	1	1	4	52					A	88207522	C	A	88207522	3	1	50	1	0	0	0	0	1	0	0	0	400	478	17	4	1191	4	AGTPBP1	9	88207522	Missense_Mutation	SNP	C	TCGA-CE-A481-01A-21D-A23U-08	50467165	88207522	53005909	9	1223											
OR6C75	390323	broad.mit.edu	37	chr12	55759273	55759273	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgcatggccatctgcaaaCctcttcattacacaatcatc	5	14	4	0			TCGA-CE-A481-01A-21D-A23U-08	TCGA-CE-A481-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d410fec-2a49-4f9d-a430-c8680f20d3e8	168556c4-5ce6-4d1d-aa78-4be965e6225f	g.chr12:55759273C>A	ENST00000343399.3	+	1	379	c.379C>A	c.(379-381)Cct>Act	p.P127T		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	127						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(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						CATCTGCAAACCTCTTCATTA	0.468																																						ENST00000343399.3																			0				endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						c.(379-381)Cct>Act		olfactory receptor, family 6, subfamily C, member 75							159	137	145					12																	55759273		2203	4300	6503	SO:0001583	missense	390323				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55759273C>A		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"GPCR / Class A : Olfactory receptors"	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.379C>A	12.37:g.55759273C>A	ENSP00000368987:p.Pro127Thr						p.P127T	NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN			1	379	+			127						Missense_Mutation	SNP	ENST00000343399.3	37	c.379C>A	CCDS31820.1	.	.	.	.	.	.	.	.	.	.	c	20.9	4.059157	0.76074	.	.	ENSG00000187857	ENST00000343399	T	0.01887	4.58	5.25	5.25	0.73442	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44688	D	0.000435	T	0.28366	0.0701	H	0.99182	4.46	0.53688	D	0.999972	D	0.89917	1.0	D	0.97110	1.0	T	0.56511	-0.7967	10	0.87932	D	0	.	18.6325	0.91364	0.0:1.0:0.0:0.0	.	127	A6NL08	O6C75_HUMAN	T	127	ENSP00000368987:P127T	ENSP00000368987:P127T	P	+	1	0	OR6C75	54045540	1.000000	0.71417	0.994000	0.49952	0.728000	0.41692	5.485000	0.66850	2.729000	0.93468	0.637000	0.83480	CCT		0.468	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1			11	21	1	0	7.03913e-09	1	8.35896e-09	11	21					A	55759273	C	A	55759273	3	1	50	1	0	0	0	0	1	0	0	0	11199	507	18	4	381	4	OR6C75	12	55759273	Missense_Mutation	SNP	C	TCGA-CE-A481-01A-21D-A23U-08		55759273	78092622	10	1224											
SUOX	6821	broad.mit.edu	37	chr12	56397430	56397430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagtcaacacacatatacaCtaaggaggaagtgagttccc	10	9	1	1	rs546138860	byFrequency	TCGA-CE-A481-01A-21D-A23U-08	TCGA-CE-A481-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d410fec-2a49-4f9d-a430-c8680f20d3e8	168556c4-5ce6-4d1d-aa78-4be965e6225f	g.chr12:56397430C>T	ENST00000394109.3	+	3	981	c.257C>T	c.(256-258)aCt>aTt	p.T86I	SUOX_ENST00000394115.2_Missense_Mutation_p.T86I|SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000356124.4_Missense_Mutation_p.T86I|SUOX_ENST00000551841.2_Missense_Mutation_p.T86I|SUOX_ENST00000548274.1_Missense_Mutation_p.T86I|SUOX_ENST00000266971.3_Missense_Mutation_p.T86I			P51687	SUOX_HUMAN	sulfite oxidase	86	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			CACATATACACTAAGGAGGAA	0.488													C|||	3	0.000599042	0	0	5008	,	,		19987	0.003		0	False		,,,				2504	0					ENST00000394109.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15						c.(256-258)aCt>aTt		sulfite oxidase							77	76	77					12																	56397430		2203	4300	6503	SO:0001583	missense	6821					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity	g.chr12:56397430C>T	BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.257C>T	12.37:g.56397430C>T	ENSP00000377668:p.Thr86Ile					SUOX_ENST00000394115.2_Missense_Mutation_p.T86I|SUOX_ENST00000548274.1_Missense_Mutation_p.T86I|SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000551841.2_Missense_Mutation_p.T86I|SUOX_ENST00000266971.3_Missense_Mutation_p.T86I|SUOX_ENST00000356124.4_Missense_Mutation_p.T86I	p.T86I			P51687	SUOX_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)		3	981	+			86			Cytochrome b5 heme-binding.			Missense_Mutation	SNP	ENST00000394109.3	37	c.257C>T	CCDS8901.2	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760018	0.49468	.	.	ENSG00000139531	ENST00000356124;ENST00000266971;ENST00000394115;ENST00000552258;ENST00000548274;ENST00000546833;ENST00000551841;ENST00000394109	D;D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	4.91	4.91	0.64330	Cytochrome b5 (4);	0.352176	0.27076	N	0.021059	D	0.93171	0.7825	H	0.97491	4.015	0.36356	D	0.860408	P	0.35807	0.522	P	0.52881	0.712	D	0.95788	0.8822	10	0.66056	D	0.02	-7.9929	13.1717	0.59602	0.0:0.8391:0.1609:0.0	.	86	P51687	SUOX_HUMAN	I	86	ENSP00000348440:T86I;ENSP00000266971:T86I;ENSP00000377674:T86I;ENSP00000450049:T86I;ENSP00000450245:T86I;ENSP00000449872:T86I;ENSP00000377668:T86I	ENSP00000266971:T86I	T	+	2	0	SUOX	54683697	0.988000	0.35896	0.496000	0.27539	0.769000	0.43574	2.790000	0.47821	2.730000	0.93505	0.591000	0.81541	ACT		0.488	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250309.1	NM_000456		13	41	0	0	0	1	0	13	41					T	56397430	C	T	56397430	3	4	50	1	0	0	0	0	1	0	0	0	15392	565	20	2	267	2	SUOX	12	56397430	Missense_Mutation	SNP	C	TCGA-CE-A481-01A-21D-A23U-08	638157	56397430	77454465	11	1225											
ZC3H13	23091	broad.mit.edu	37	chr13	46549612	46549612	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccgttctcgctctctctcCctctctctctcttctctttc	2	20	7	0			TCGA-CE-A481-01A-21D-A23U-08	TCGA-CE-A481-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d410fec-2a49-4f9d-a430-c8680f20d3e8	168556c4-5ce6-4d1d-aa78-4be965e6225f	g.chr13:46549612C>T	ENST00000242848.4	-	12	2622	c.2274G>A	c.(2272-2274)agG>agA	p.R758R	ZC3H13_ENST00000282007.3_Silent_p.R758R			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	758	Arg/Glu-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R758fs*104(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		gctctctctccctctctctct	0.532																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			1	Deletion - Frameshift(1)	p.R758fs*104(1)	large_intestine(1)	cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(2272-2274)agG>agA		zinc finger CCCH-type containing 13							220	171	188					13																	46549612		2203	4299	6502	SO:0001819	synonymous_variant	23091						nucleic acid binding|zinc ion binding	g.chr13:46549612C>T	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2274G>A	13.37:g.46549612C>T						ZC3H13_ENST00000282007.3_Silent_p.R758R	p.R758R			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	12	2622	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	758			Arg/Glu-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Silent	SNP	ENST00000242848.4	37	c.2274G>A																																																																																					0.532	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		4	29	0	0	0	1	0	4	29					T	46549612	C	T	46549612	2	4	50	1	0	0	0	0	0	0	0	1	17562	622	22	2		2	ZC3H13	13	46549612	Silent	SNP	C	TCGA-CE-A481-01A-21D-A23U-08		46549612	68620266	12	1226											
USP6	9098	broad.mit.edu	37	chr17	5076261	5076262	+	Frame_Shift_Del	DEL	TA	TA	-													tctgattacgaaaagtactcTatgttacagtaaagctacca							TCGA-CE-A481-01A-21D-A23U-08	TCGA-CE-A481-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d410fec-2a49-4f9d-a430-c8680f20d3e8	168556c4-5ce6-4d1d-aa78-4be965e6225f	g.chr17:5076261_5076262delTA	ENST00000574788.1	+	38	6439_6440	c.4209_4210delTA	c.(4207-4212)tctatgfs	p.M1404fs	USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Frame_Shift_Del_p.M1087fs|USP6_ENST00000250066.6_Frame_Shift_Del_p.M1404fs			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	1404					cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AAAAGTACTCTATGTTACAGTA	0.45			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts																																	ENST00000574788.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"COL1A1, CDH11, ZNF9, OMD"		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(4207-4212)tctgfs		ubiquitin specific peptidase 6 (Tre-2 oncogene)																																				SO:0001589	frameshift_variant	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5076261_5076262delTA	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"Ubiquitin-specific peptidases"	12629	protein-coding gene	gene with protein product	"ubiquitin carboxyl-terminal hydrolase 6", "TBC1D3 and USP32 fusion", "Tre-2 oncogene"	604334	"ubiquitin specific protease 6 (Tre-2 oncogene)", "TRE oncogene, Smith Magenis syndrome chromosome region", "ubiquitin specific peptidase 6 (Tre-2 oncogene)"	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.4209_4210delTA	17.37:g.5076261_5076262delTA	ENSP00000460380:p.Met1404fs					USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Frame_Shift_Del_p.SM1086fs|USP6_ENST00000250066.6_Frame_Shift_Del_p.SM1403fs	p.SM1403fs			P35125	UBP6_HUMAN			38	6439_6440	+			1403					Q15634|Q86WP6|Q8IWT4	Frame_Shift_Del	DEL	ENST00000574788.1	37	c.4209_4210delTA	CCDS11069.2																																																																																				0.45	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		12	29						12	29	---	---	---	---	-	5076262	TA	-	5076261	7	5	50	1	0	1	0	1	0	0	0	0	17083	1509	53	0	4323	0	USP6	17	5076261	Frame_Shift_Del	DEL	TA	TCGA-CE-A481-01A-21D-A23U-08		5076261	76118949	13	1227											
DGCR14	8220	broad.mit.edu	37	chr22	19132143	19132143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacgacgctgatgcgcccGgcgtctccatcgctatccca	11	16	1	1			TCGA-CE-A481-01A-21D-A23U-08	TCGA-CE-A481-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d410fec-2a49-4f9d-a430-c8680f20d3e8	168556c4-5ce6-4d1d-aa78-4be965e6225f	g.chr22:19132143G>A	ENST00000252137.6	-	1	54	c.11C>T	c.(10-12)cCg>cTg	p.P4L		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	4					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					TGATGCGCCCGGCGTCTCCAT	0.692																																						ENST00000252137.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16						c.(10-12)cCg>cTg		DiGeorge syndrome critical region gene 14							9	10	10					22																	19132143		2190	4273	6463	SO:0001583	missense	8220				nervous system development	catalytic step 2 spliceosome		g.chr22:19132143G>A	L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"DiGeorge syndrome critical region gene 13"	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.11C>T	22.37:g.19132143G>A	ENSP00000252137:p.Pro4Leu						p.P4L	NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN			1	54	-	Colorectal(54;0.0993)		4					Q49AH7|Q9BTZ4	Missense_Mutation	SNP	ENST00000252137.6	37	c.11C>T	CCDS13756.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613773	0.66672	.	.	ENSG00000100056	ENST00000252137	T	0.27720	1.65	3.73	3.73	0.42828	.	0.338063	0.27754	N	0.018000	T	0.15522	0.0374	N	0.08118	0	0.33484	D	0.587802	D	0.64830	0.994	B	0.38921	0.285	T	0.24119	-1.0169	10	0.49607	T	0.09	-14.0094	14.5517	0.68070	0.0:0.0:1.0:0.0	.	4	Q96DF8	DGC14_HUMAN	L	4	ENSP00000252137:P4L	ENSP00000252137:P4L	P	-	2	0	DGCR14	17512143	0.806000	0.28996	0.092000	0.20876	0.006000	0.05464	2.499000	0.45372	2.389000	0.81357	0.563000	0.77884	CCG		0.692	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316432.2			8	6	0	0	0	1	0	8	6					A	19132143	G	A	19132143	3	1	50	1	0	0	0	0	1	0	0	0	4460	1116	39	1	1459	1	DGCR14	22	19132143	Missense_Mutation	SNP	G	TCGA-CE-A481-01A-21D-A23U-08		19132143	32172423	14	1228											
CXorf1	9142	broad.mit.edu	37	chrX	144909459	144909459	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagcatcagcacagcaaaatGgttccagcctacagaatgca	9	11	1	1	rs144670117		TCGA-CE-A481-01A-21D-A23U-08	TCGA-CE-A481-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d410fec-2a49-4f9d-a430-c8680f20d3e8	168556c4-5ce6-4d1d-aa78-4be965e6225f	g.chrX:144909459G>T	ENST00000408967.2	+	1	532	c.264G>T	c.(262-264)atG>atT	p.M88I		NM_004709.2	NP_004700.1	O96002	TM257_HUMAN	transmembrane protein 257	88						integral component of membrane (GO:0016021)											ACAGCAAAATGGTTCCAGCCT	0.393																																						ENST00000408967.2																			0											c.(262-264)atG>atT		transmembrane protein 257		G	ILE/MET	0,3835		0,0,1632,571	65	60	62		264	-3.3	0.0	X	dbSNP_134	62	1,6727		0,1,2427,1872	no	missense	CXorf1	NM_004709.2	10	0,1,4059,2443	TT,TG,GG,G		0.0149,0.0,0.0095	benign	88/112	144909459	1,10562	2203	4300	6503	SO:0001583	missense	9142							g.chrX:144909459G>T	Y08902	CCDS14681.1	Xq27.3	2012-12-03	2012-12-03	2012-12-03	ENSG00000221870	ENSG00000221870			2562	protein-coding gene	gene with protein product		300565	"chromosome X open reading frame 1"	CXorf1		9881668	Standard	NM_004709		Approved		uc004fch.3	O96002	OTTHUMG00000159605	ENST00000408967.2:c.264G>T	X.37:g.144909459G>T	ENSP00000386149:p.Met88Ile						p.M88I	NM_004709.2	NP_004700.1					1	532	+								Q14CW0	Missense_Mutation	SNP	ENST00000408967.2	37	c.264G>T	CCDS14681.1	.	.	.	.	.	.	.	.	.	.	G	0.394	-0.922027	0.02396	0.0	1.49E-4	ENSG00000221870	ENST00000408967	T	0.48201	0.82	5.45	-3.34	0.04943	.	.	.	.	.	T	0.22475	0.0542	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.14980	-1.0453	9	0.87932	D	0	.	4.3606	0.11201	0.3099:0.0:0.2209:0.4692	.	88	O96002	CX001_HUMAN	I	88	ENSP00000386149:M88I	ENSP00000386149:M88I	M	+	3	0	CXorf1	144717151	0.006000	0.16342	0.000000	0.03702	0.037000	0.13140	-0.413000	0.07123	-0.898000	0.03906	-0.324000	0.08512	ATG		0.393	TMEM257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356465.1	NM_004709		4	21	1	0	0.000602214	1	0.000635671	4	21					T	144909459	G	T	144909459	3	4	50	1	0	0	0	0	1	0	0	0	4100	1348	47	4	266	4	CXorf1	23	144909459	Missense_Mutation	SNP	G	TCGA-CE-A481-01A-21D-A23U-08		144909459	10361101	15	1229											
NRXN1	9378	broad.mit.edu	37	chr2	50765449	50765449	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caatcacagacatatctgttCcacccatccctgcacatgcc	4	17	2	1			TCGA-CE-A482-01A-11D-A23U-08	TCGA-CE-A482-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36a7dd2c-a840-41b7-8b20-5b5d7fe9f20a	cd98f940-450f-4fe6-8c45-d6aa526e6494	g.chr2:50765449C>A	ENST00000406316.2	-	10	3561	c.2085G>T	c.(2083-2085)tgG>tgT	p.W695C	NRXN1_ENST00000401669.2_Missense_Mutation_p.W695C|NRXN1_ENST00000402717.3_Missense_Mutation_p.W687C|NRXN1_ENST00000406859.3_Missense_Mutation_p.W695C|NRXN1_ENST00000404971.1_Missense_Mutation_p.W735C|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Missense_Mutation_p.W687C	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	695	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CATATCTGTTCCACCCATCCC	0.488																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(2203-2205)tgG>tgT		neurexin 1							209	206	207					2																	50765449		2046	4210	6256	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50765449C>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2085G>T	2.37:g.50765449C>A	ENSP00000384311:p.Trp695Cys					NRXN1_ENST00000406316.2_Missense_Mutation_p.W695C|NRXN1_ENST00000405472.3_Missense_Mutation_p.W687C|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.W695C|NRXN1_ENST00000402717.3_Missense_Mutation_p.W687C|NRXN1_ENST00000406859.3_Missense_Mutation_p.W695C	p.W735C	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		11	3544	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	695			Laminin G-like 4.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.2205G>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290299	0.80914	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	D;D;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1;-2.1	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.94032	0.8088	M	0.82630	2.6	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.998	D	0.94503	0.7711	10	0.72032	D	0.01	.	18.7326	0.91741	0.0:1.0:0.0:0.0	.	735;695;687	Q9ULB1-3;F8WB18;A7E294	.;.;.	C	735;695;687;695;736;687;695	ENSP00000385142:W735C;ENSP00000384311:W695C;ENSP00000434015:W687C;ENSP00000385017:W695C;ENSP00000385434:W687C;ENSP00000385681:W695C	ENSP00000385017:W695C	W	-	3	0	NRXN1	50618953	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.649000	0.89929	0.650000	0.86243	TGG		0.488	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			9	197	1	0	3.86212e-05	1	4.03004e-05	9	197					A	50765449	C	A	50765449	3	1	51	1	0	0	0	0	1	0	0	0	10665	856	30	4	2757	4	NRXN1	2	50765449	Missense_Mutation	SNP	C	TCGA-CE-A482-01A-11D-A23U-08		50765449	192433924	1	1230											
RAF1	5894	broad.mit.edu	37	chr3	12645671	12645671	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccacaggcagggtggtgctGaccatgtggacattaggtgt	15	8	0	1			TCGA-CE-A482-01A-11D-A23U-08	TCGA-CE-A482-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36a7dd2c-a840-41b7-8b20-5b5d7fe9f20a	cd98f940-450f-4fe6-8c45-d6aa526e6494	g.chr3:12645671G>A	ENST00000251849.4	-	7	1237	c.798C>T	c.(796-798)gtC>gtT	p.V266V	RAF1_ENST00000442415.2_Silent_p.V266V|RAF1_ENST00000534997.1_Silent_p.V51V|RAF1_ENST00000542177.1_Silent_p.V185V	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	266					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|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 extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	GGGTGGTGCTGACCATGTGGA	0.517			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																													ENST00000251849.4				Dom	yes		3	3p25	5894	T	v-raf-1 murine leukemia viral oncogene homolog 1			M	SRGAP3		pilocytic astrocytoma	ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32						c.(796-798)gtC>gtT		v-raf-1 murine leukemia viral oncogene homolog 1	Sorafenib(DB00398)						147	132	137					3																	12645671		2203	4300	6503	SO:0001819	synonymous_variant	5894	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr3:12645671G>A	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"C-Raf proto-oncogene, serine/threonine kinase"	164760	"v-raf-1 murine leukemia viral oncogene homolog 1"			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.798C>T	3.37:g.12645671G>A						RAF1_ENST00000542177.1_Silent_p.V185V|RAF1_ENST00000534997.1_Silent_p.V51V|RAF1_ENST00000442415.2_Silent_p.V266V	p.V266V	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN			7	1237	-			266					B0LPH8|B2R5N3|Q15278|Q9UC20	Silent	SNP	ENST00000251849.4	37	c.798C>T	CCDS2612.1																																																																																				0.517	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252015.2	NM_002880		7	78	0	0	0	1	0	7	78					A	12645671	G	A	12645671	2	1	51	1	0	0	0	0	0	0	0	1	13002	1277	45	2		2	RAF1	3	12645671	Silent	SNP	G	TCGA-CE-A482-01A-11D-A23U-08		12645671	185376759	2	1231											
GPR125	166647	broad.mit.edu	37	chr4	22517165	22517165	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcacagggtgaccgtgcgGttgggcagagtatctggggg	18	8	2	2			TCGA-CE-A482-01A-11D-A23U-08	TCGA-CE-A482-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36a7dd2c-a840-41b7-8b20-5b5d7fe9f20a	cd98f940-450f-4fe6-8c45-d6aa526e6494	g.chr4:22517165G>A	ENST00000334304.5	-	1	512	c.243C>T	c.(241-243)aaC>aaT	p.N81N	GPR125_ENST00000502482.1_Silent_p.N81N	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	81					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TGACCGTGCGGTTGGGCAGAG	0.687																																						ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(241-243)aaC>aaT		G protein-coupled receptor 125							30	32	31					4																	22517165		2202	4300	6502	SO:0001819	synonymous_variant	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22517165G>A	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing"	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.243C>T	4.37:g.22517165G>A						GPR125_ENST00000502482.1_Silent_p.N81N	p.N81N	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			1	512	-		Breast(46;0.198)	81					Q6UXK9|Q86SQ5|Q8TC55	Silent	SNP	ENST00000334304.5	37	c.243C>T	CCDS33964.1																																																																																				0.687	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			4	12	0	0	0	1	0	4	12					A	22517165	G	A	22517165	2	1	51	1	0	0	0	0	0	0	0	1	6639	1252	44	2		2	GPR125	4	22517165	Silent	SNP	G	TCGA-CE-A482-01A-11D-A23U-08		22517165	168637111	3	1232											
TBP	6908	broad.mit.edu	37	chr6	170871094	170871094	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaGcagcagcagcaacaggcagt	13	13	0	0			TCGA-CE-A482-01A-11D-A23U-08	TCGA-CE-A482-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36a7dd2c-a840-41b7-8b20-5b5d7fe9f20a	cd98f940-450f-4fe6-8c45-d6aa526e6494	g.chr6:170871094G>A	ENST00000392092.2	+	3	549	c.270G>A	c.(268-270)caG>caA	p.Q90Q	TBP_ENST00000230354.6_Silent_p.Q90Q|TBP_ENST00000540980.1_Silent_p.Q70Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	90	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	0.622																																						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.(268-270)caG>caA		TATA box binding protein							22	28	26					6																	170871094		1899	3721	5620	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.chr6:170871094G>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.270G>A	6.37:g.170871094G>A						TBP_ENST00000540980.1_Silent_p.Q70Q|TBP_ENST00000230354.6_Silent_p.Q90Q	p.Q90Q	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	549	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	90			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.270G>A	CCDS5315.1																																																																																				0.622	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		4	42	0	0	0	1	0	4	42					A	170871094	G	A	170871094	2	1	51	1	0	0	0	0	0	0	0	1	15641	962	34	2		2	TBP	6	170871094	Silent	SNP	G	TCGA-CE-A482-01A-11D-A23U-08		170871094	243973	4	1233											
LRGUK	136332	broad.mit.edu	37	chr7	133821786	133821786	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttttttacaggaggaatttgAtggggtcctgagagaggagg	16	3	0	3			TCGA-CE-A482-01A-11D-A23U-08	TCGA-CE-A482-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36a7dd2c-a840-41b7-8b20-5b5d7fe9f20a	cd98f940-450f-4fe6-8c45-d6aa526e6494	g.chr7:133821786A>T	ENST00000285928.2	+	2	377	c.308A>T	c.(307-309)gAt>gTt	p.D103V	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	103						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GAGGAATTTGATGGGGTCCTG	0.428																																						ENST00000285928.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(307-309)gAt>gTt		leucine-rich repeats and guanylate kinase domain containing							49	50	49					7																	133821786		2203	4300	6503	SO:0001583	missense	136332						ATP binding|kinase activity	g.chr7:133821786A>T	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.308A>T	7.37:g.133821786A>T	ENSP00000285928:p.Asp103Val					LRGUK_ENST00000473068.1_3'UTR	p.D103V	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN			2	377	+			103					Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	c.308A>T	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	A	17.48	3.399143	0.62177	.	.	ENSG00000155530	ENST00000285928	T	0.38722	1.12	4.99	4.99	0.66335	.	0.191966	0.36303	N	0.002668	T	0.62804	0.2458	M	0.71581	2.175	0.58432	D	0.999997	D	0.89917	1.0	D	0.76575	0.988	T	0.67067	-0.5764	10	0.72032	D	0.01	-23.6539	13.6928	0.62556	1.0:0.0:0.0:0.0	.	103	Q96M69	LRGUK_HUMAN	V	103	ENSP00000285928:D103V	ENSP00000285928:D103V	D	+	2	0	LRGUK	133472326	1.000000	0.71417	1.000000	0.80357	0.485000	0.33311	6.065000	0.71176	1.881000	0.54492	0.528000	0.53228	GAT		0.428	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		9	16	0	0	0	1	0	9	16					T	133821786	A	T	133821786	3	4	51	1	0	0	0	0	1	0	0	0	8943	333	12	5	314	5	LRGUK	7	133821786	Missense_Mutation	SNP	A	TCGA-CE-A482-01A-11D-A23U-08		133821786	25316877	5	1234											
DIP2C	22982	broad.mit.edu	37	chr10	375466	375466	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggactttgtactgactcacGgcaagaagccacaaggcggg	13	11	1	2	rs367686379		TCGA-CE-A482-01A-11D-A23U-08	TCGA-CE-A482-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36a7dd2c-a840-41b7-8b20-5b5d7fe9f20a	cd98f940-450f-4fe6-8c45-d6aa526e6494	g.chr10:375466G>T	ENST00000280886.6	-	30	3747	c.3660C>A	c.(3658-3660)gcC>gcA	p.A1220A		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1220						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.A1220A(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ACTGACTCACGGCAAGAAGCC	0.562																																						ENST00000280886.6																			1	Substitution - coding silent(1)	p.A1220A(1)	kidney(1)	breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(3658-3660)gcC>gcA		DIP2 disco-interacting protein 2 homolog C (Drosophila)							60	52	55					10																	375466		2203	4300	6503	SO:0001819	synonymous_variant	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:375466G>T	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"KIAA0934"	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3660C>A	10.37:g.375466G>T							p.A1220A	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	30	3747	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	1220					B4DPI5|Q5SS78	Silent	SNP	ENST00000280886.6	37	c.3660C>A	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	G	3.295	-0.144033	0.06627	.	.	ENSG00000151240	ENST00000434695	.	.	.	5.84	-4.66	0.03329	.	.	.	.	.	T	0.63177	0.2489	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62378	-0.6867	4	.	.	.	-28.521	14.5995	0.68429	0.524:0.0:0.476:0.0	.	.	.	.	S	26	.	.	R	-	1	0	DIP2C	365466	0.855000	0.29742	0.502000	0.27614	0.075000	0.17131	0.043000	0.13971	-1.173000	0.02758	-0.781000	0.03364	CGT		0.562	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		9	20	1	0	3.86212e-05	1	4.03004e-05	9	20					T	375466	G	T	375466	2	4	51	1	0	0	0	0	0	0	0	1	4529	1103	39	4		4	DIP2C	10	375466	Silent	SNP	G	TCGA-CE-A482-01A-11D-A23U-08		375466	135159281	6	1235											
SOX8	30812	broad.mit.edu	37	chr16	1034756	1034756	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaagacggagctgcagcaGgcgggcgccaagccggagct	16	14	0	1	rs183697287	byFrequency	TCGA-CE-A482-01A-11D-A23U-08	TCGA-CE-A482-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36a7dd2c-a840-41b7-8b20-5b5d7fe9f20a	cd98f940-450f-4fe6-8c45-d6aa526e6494	g.chr16:1034756G>A	ENST00000293894.3	+	3	826	c.711G>A	c.(709-711)caG>caA	p.Q237Q		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	237					adipose tissue development (GO:0060612)|astrocyte fate commitment (GO:0060018)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|enteric nervous system development (GO:0048484)|fat cell differentiation (GO:0045444)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of gliogenesis (GO:0014015)|positive regulation of kidney development (GO:0090184)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone levels (GO:0010817)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|ureter morphogenesis (GO:0072197)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				AGCTGCAGCAGGCGGGCGCCA	0.682													G|||	3	0.000599042	0	0	5008	,	,		8052	0		0.003	False		,,,				2504	0					ENST00000293894.3																			0				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10						c.(709-711)caG>caA		SRY (sex determining region Y)-box 8		G		3,4349		0,3,2173	9	10	9		711	-3.8	0.0	16		9	29,8475		1,27,4224	no	coding-synonymous	SOX8	NM_014587.3		1,30,6397	AA,AG,GG		0.341,0.0689,0.2489		237/447	1034756	32,12824	2176	4252	6428	SO:0001819	synonymous_variant	30812				adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus		g.chr16:1034756G>A	AF164104	CCDS10428.1	16p13.3	2008-05-23			ENSG00000005513	ENSG00000005513		"SRY (sex determining region Y)-boxes"	11203	protein-coding gene	gene with protein product		605923				10662550, 10684944	Standard	NM_014587		Approved		uc002ckn.3	P57073	OTTHUMG00000122101	ENST00000293894.3:c.711G>A	16.37:g.1034756G>A							p.Q237Q	NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN			3	826	+		Hepatocellular(780;0.00308)	237					Q9NZW2	Silent	SNP	ENST00000293894.3	37	c.711G>A	CCDS10428.1																																																																																				0.682	SOX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242867.1			3	11	0	0	0	1	0	3	11					A	1034756	G	A	1034756	2	1	51	1	0	0	0	0	0	0	0	1	14957	991	35	2		2	SOX8	16	1034756	Silent	SNP	G	TCGA-CE-A482-01A-11D-A23U-08		1034756	89319997	7	1236											
ZNF646	9726	broad.mit.edu	37	chr16	31092931	31092931	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgggaggggcctttcacCtgcccccattgtccccgcca	10	20	1	0			TCGA-CE-A482-01A-11D-A23U-08	TCGA-CE-A482-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36a7dd2c-a840-41b7-8b20-5b5d7fe9f20a	cd98f940-450f-4fe6-8c45-d6aa526e6494	g.chr16:31092931C>T	ENST00000394979.2	+	1	5709	c.5286C>T	c.(5284-5286)acC>acT	p.T1762T	ZNF646_ENST00000300850.5_Silent_p.T1762T			O15015	ZN646_HUMAN	zinc finger protein 646	1762					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(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GGCCTTTCACCTGCCCCCATT	0.701																																						ENST00000394979.2																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(5284-5286)acC>acT		zinc finger protein 646							17	20	19					16																	31092931		2191	4286	6477	SO:0001819	synonymous_variant	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31092931C>T	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.5286C>T	16.37:g.31092931C>T						ZNF646_ENST00000300850.5_Silent_p.T1762T	p.T1762T			O15015	ZN646_HUMAN			1	5709	+			1762					Q8IVD8	Silent	SNP	ENST00000394979.2	37	c.5286C>T																																																																																					0.701	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		7	25	0	0	0	1	0	7	25					T	31092931	C	T	31092931	2	4	51	1	0	0	0	0	0	0	0	1	18059	668	24	2		2	ZNF646	16	31092931	Silent	SNP	C	TCGA-CE-A482-01A-11D-A23U-08	30058175	31092931	59261822	8	1237											
TCEAL6	158931	broad.mit.edu	37	chrX	101396186	101396186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctcgcattctgtcttccCctccgcgtctggcttttctt	6	17	4	0			TCGA-CE-A482-01A-11D-A23U-08	TCGA-CE-A482-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36a7dd2c-a840-41b7-8b20-5b5d7fe9f20a	cd98f940-450f-4fe6-8c45-d6aa526e6494	g.chrX:101396186C>T	ENST00000372774.3	-	3	367	c.118G>A	c.(118-120)Ggg>Agg	p.G40R	TCEAL6_ENST00000372773.1_Missense_Mutation_p.G40R	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	40	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						tctgtcttcccctccgcgtct	0.507																																						ENST00000372774.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						c.(118-120)Ggg>Agg		transcription elongation factor A (SII)-like 6							122	97	105					X																	101396186		2203	4300	6503	SO:0001583	missense	158931				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:101396186C>T	BC071675	CCDS43978.1	Xq22.1	2014-03-21			ENSG00000204071	ENSG00000204071			24553	protein-coding gene	gene with protein product						16221301	Standard	NM_001006938		Approved	WEX2	uc004eiq.3	Q6IPX3	OTTHUMG00000022050	ENST00000372774.3:c.118G>A	X.37:g.101396186C>T	ENSP00000361860:p.Gly40Arg					TCEAL6_ENST00000372773.1_Missense_Mutation_p.G40R	p.G40R	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN			3	367	-			40			Glu-rich.		Q5H9J8	Missense_Mutation	SNP	ENST00000372774.3	37	c.118G>A	CCDS43978.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.502632	0.44455	.	.	ENSG00000204071	ENST00000372774;ENST00000372773;ENST00000536102	T;T	0.25912	1.77;1.77	2.47	2.47	0.30058	.	1.068980	0.07383	N	0.887717	T	0.41650	0.1168	M	0.64567	1.98	0.09310	N	1	D	0.57257	0.979	P	0.56563	0.801	T	0.22871	-1.0204	10	0.44086	T	0.13	.	10.1944	0.43045	0.0:1.0:0.0:0.0	.	40	Q6IPX3-2	.	R	40	ENSP00000361860:G40R;ENSP00000361859:G40R	ENSP00000361859:G40R	G	-	1	0	TCEAL6	101282842	0.002000	0.14202	0.001000	0.08648	0.222000	0.24845	0.113000	0.15499	1.507000	0.48752	0.468000	0.43344	GGG		0.507	TCEAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057609.1	NM_001006938		26	42	0	0	0	1	0	26	42					T	101396186	C	T	101396186	3	4	51	1	0	0	0	0	1	0	0	0	15672	623	22	2	437	2	TCEAL6	23	101396186	Missense_Mutation	SNP	C	TCGA-CE-A482-01A-11D-A23U-08		101396186	53874374	9	1238											
VPS13D	55187	broad.mit.edu	37	chr1	12343170	12343170	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttcagattgccctgcattctCtgctgatggaggacttattg	10	9	2	2			TCGA-CE-A483-01A-11D-A23U-08	TCGA-CE-A483-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc9603f-fb8b-4a6c-b048-f6bd6956eb0f	22aacc1b-445f-4882-909b-cccc9f1f90cb	g.chr1:12343170C>G	ENST00000358136.3	+	21	5141	c.5011C>G	c.(5011-5013)Ctg>Gtg	p.L1671V	VPS13D_ENST00000356315.4_Missense_Mutation_p.L1671V	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)		CCTGCATTCTCTGCTGATGGA	0.443																																						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.(5011-5013)Ctg>Gtg		vacuolar protein sorting 13 homolog D (S. cerevisiae)							109	118	115					1																	12343170		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12343170C>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.5011C>G	1.37:g.12343170C>G	ENSP00000350854:p.Leu1671Val					VPS13D_ENST00000356315.4_Missense_Mutation_p.L1671V	p.L1671V	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	5141	+	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)	1671						Missense_Mutation	SNP	ENST00000358136.3	37	c.5011C>G	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.954616	0.34471	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.68025	-0.3;-0.28	5.89	4.0	0.46444	.	0.076085	0.53938	D	0.000053	T	0.80319	0.4601	M	0.70275	2.135	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.83275	0.996;0.991	T	0.80065	-0.1538	10	0.41790	T	0.15	.	15.9069	0.79436	0.0:0.8762:0.0:0.1238	.	1671;1671	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	V	1671	ENSP00000348666:L1671V;ENSP00000350854:L1671V	ENSP00000348666:L1671V	L	+	1	2	VPS13D	12265757	0.510000	0.26171	0.999000	0.59377	0.470000	0.32858	0.886000	0.28241	0.845000	0.35118	-1.134000	0.01955	CTG		0.443	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		4	85	0	0	0	1	0	4	85					G	12343170	C	G	12343170	3	3	52	1	0	0	0	0	1	0	0	0	17189	912	32	4	5089	4	VPS13D	1	12343170	Missense_Mutation	SNP	C	TCGA-CE-A483-01A-11D-A23U-08		12343170	236907451	1	1239											
CELSR2	1952	broad.mit.edu	37	chr1	109795934	109795934	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctggtcctgctcaatgcctCcacgggtgagctgaagctaa	11	13	1	2			TCGA-CE-A483-01A-11D-A23U-08	TCGA-CE-A483-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc9603f-fb8b-4a6c-b048-f6bd6956eb0f	22aacc1b-445f-4882-909b-cccc9f1f90cb	g.chr1:109795934C>T	ENST00000271332.3	+	1	3294	c.3233C>T	c.(3232-3234)tCc>tTc	p.S1078F		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1078	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTCAATGCCTCCACGGGTGAG	0.587																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(3232-3234)tCc>tTc		cadherin, EGF LAG seven-pass G-type receptor 2							52	48	49					1																	109795934		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109795934C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.3233C>T	1.37:g.109795934C>T	ENSP00000271332:p.Ser1078Phe						p.S1078F	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	3294	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1078			Cadherin 9.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.3233C>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	16.57	3.159307	0.57368	.	.	ENSG00000143126	ENST00000271332	T	0.45276	0.9	5.02	5.02	0.67125	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.46639	0.1403	M	0.69185	2.1	0.44771	D	0.997771	D	0.61080	0.989	P	0.58331	0.837	T	0.43956	-0.9359	9	0.48119	T	0.1	.	11.7017	0.51575	0.1358:0.7326:0.1316:0.0	.	1078	Q9HCU4	CELR2_HUMAN	F	1078	ENSP00000271332:S1078F	ENSP00000271332:S1078F	S	+	2	0	CELSR2	109597457	0.105000	0.21958	1.000000	0.80357	0.998000	0.95712	0.662000	0.25038	2.619000	0.88677	0.650000	0.86243	TCC		0.587	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		4	44	0	0	0	1	0	4	44					T	109795934	C	T	109795934	3	4	52	1	0	0	0	0	1	0	0	0	3222	855	30	2	3235	2	CELSR2	1	109795934	Missense_Mutation	SNP	C	TCGA-CE-A483-01A-11D-A23U-08	97452764	109795934	139454687	2	1240											
N4BP3	23138	broad.mit.edu	37	chr5	177547253	177547253	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatccatgcaaagtctggcGtcccacaaaggccagaagct	9	13	1	1	rs377627701		TCGA-CE-A483-01A-11D-A23U-08	TCGA-CE-A483-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc9603f-fb8b-4a6c-b048-f6bd6956eb0f	22aacc1b-445f-4882-909b-cccc9f1f90cb	g.chr5:177547253G>A	ENST00000274605.5	+	3	764	c.405G>A	c.(403-405)gcG>gcA	p.A135A		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	135						cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	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)			AAAGTCTGGCGTCCCACAAAG	0.682													G|||	1	0.000199681	0	0	5008	,	,		13875	0		0	False		,,,				2504	0.001					ENST00000274605.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						c.(403-405)gcG>gcA		NEDD4 binding protein 3		G		0,4406		0,0,2203	38	39	39		405	-10.0	0.1	5		39	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	N4BP3	NM_015111.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		135/545	177547253	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23138					cytoplasmic vesicle membrane		g.chr5:177547253G>A	AB002339	CCDS34307.1	5q35.3	2012-05-17				ENSG00000145911			29852	protein-coding gene	gene with protein product						9205841, 11717310	Standard	XM_006714834		Approved	LZTS4	uc003mik.1	O15049		ENST00000274605.5:c.405G>A	5.37:g.177547253G>A							p.A135A	NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	764	+	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	135					B4DIL3|D3DWP3|Q6ZSQ6|Q7Z6I3	Silent	SNP	ENST00000274605.5	37	c.405G>A	CCDS34307.1																																																																																				0.682	N4BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373552.2	NM_015111		3	34	0	0	0	1	0	3	34					A	177547253	G	A	177547253	2	1	52	1	0	0	0	0	0	0	0	1	10113	1132	40	1		1	N4BP3	5	177547253	Silent	SNP	G	TCGA-CE-A483-01A-11D-A23U-08		177547253	3368007	3	1241											
GLI3	2737	broad.mit.edu	37	chr7	42005532	42005532	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctcgggccgcgtgtaattctGaagcacgagactgcgcttct	12	12	2	2			TCGA-CE-A483-01A-11D-A23U-08	TCGA-CE-A483-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc9603f-fb8b-4a6c-b048-f6bd6956eb0f	22aacc1b-445f-4882-909b-cccc9f1f90cb	g.chr7:42005532G>A	ENST00000395925.3	-	15	3223	c.3139C>T	c.(3139-3141)Cag>Tag	p.Q1047*	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1047					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GTGTAATTCTGAAGCACGAGA	0.672									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(3139-3141)Cag>Tag		GLI family zinc finger 3							41	45	44					7																	42005532		2203	4300	6503	SO:0001587	stop_gained	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005532G>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3139C>T	7.37:g.42005532G>A	ENSP00000379258:p.Gln1047*					GLI3_ENST00000479210.1_5'UTR	p.Q1047*	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			15	3223	-			1047					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Nonsense_Mutation	SNP	ENST00000395925.3	37	c.3139C>T	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	38	6.825770	0.97865	.	.	ENSG00000106571	ENST00000395925	.	.	.	5.47	4.6	0.57074	.	0.050094	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	14.2147	0.65786	0.0718:0.0:0.9282:0.0	.	.	.	.	X	1047	.	ENSP00000379258:Q1047X	Q	-	1	0	GLI3	41972057	1.000000	0.71417	0.985000	0.45067	0.292000	0.27327	7.666000	0.83877	1.311000	0.45024	-0.251000	0.11542	CAG		0.672	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		17	41	0	0	0	1	0	17	41					A	42005532	G	A	42005532	4	1	52	1	0	0	0	0	0	1	0	0	6439	1299	45	2	1607	2	GLI3	7	42005532	Nonsense_Mutation	SNP	G	TCGA-CE-A483-01A-11D-A23U-08		42005532	117133131	4	1242											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-CE-A483-01A-11D-A23U-08	TCGA-CE-A483-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc9603f-fb8b-4a6c-b048-f6bd6956eb0f	22aacc1b-445f-4882-909b-cccc9f1f90cb	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		15	20	0	0	0	1	0	15	20					T	140453136	A	T	140453136	3	4	52	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-CE-A483-01A-11D-A23U-08	98447604	140453136	18685527	5	1243											
MRPL43	57715	broad.mit.edu	37	chr10	102743721	102743721	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaccaatggcttggtggcaCtgcccagccggctgcggagg	16	12	0	1			TCGA-CE-A483-01A-11D-A23U-08	TCGA-CE-A483-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc9603f-fb8b-4a6c-b048-f6bd6956eb0f	22aacc1b-445f-4882-909b-cccc9f1f90cb	g.chr10:102743721C>T	ENST00000370250.4	+	14	2723	c.2350C>T	c.(2350-2352)Ctg>Ttg	p.L784L	MRPL43_ENST00000370241.3_Intron|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000210633.3_Silent_p.L789L|MRPL43_ENST00000370242.4_Silent_p.Q192Q|SEMA4G_ENST00000517724.1_Intron|MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000299179.5_Intron|MRPL43_ENST00000342071.1_Silent_p.Q192Q	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	784					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CTTGGTGGCACTGCCCAGCCG	0.652																																						ENST00000210633.3																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(2365-2367)Ctg>Ttg		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G							23	25	24					10																	102743721		2187	4273	6460	SO:0001819	synonymous_variant	57715				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr10:102743721C>T	AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.2350C>T	10.37:g.102743721C>T						RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000342071.1_Silent_p.Q192Q|MRPL43_ENST00000370242.4_Silent_p.Q192Q|SEMA4G_ENST00000517724.1_Intron|MRPL43_ENST00000318325.2_Intron|SEMA4G_ENST00000370250.4_Silent_p.L784L|MRPL43_ENST00000299179.5_Intron	p.L789L			Q9NTN9	SEM4G_HUMAN		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)	14	2443	+		Colorectal(252;0.234)	784					A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Silent	SNP	ENST00000370250.4	37	c.2365C>T																																																																																					0.652	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2			4	51	0	0	0	1	0	4	51					T	102743721	C	T	102743721	2	4	52	1	0	0	0	0	0	0	0	1	9807	564	20	2		2	MRPL43	10	102743721	Silent	SNP	C	TCGA-CE-A483-01A-11D-A23U-08		102743721	32791026	6	1244											
LTB4R	1241	broad.mit.edu	37	chr14	24785841	24785841	+	Frame_Shift_Del	DEL	C	C	-													ggccagaccgctaggagcggCcccgccgctctggagcccgg							TCGA-CE-A483-01A-11D-A23U-08	TCGA-CE-A483-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc9603f-fb8b-4a6c-b048-f6bd6956eb0f	22aacc1b-445f-4882-909b-cccc9f1f90cb	g.chr14:24785841delC	ENST00000396789.4	+	2	2709	c.984delC	c.(982-984)ggcfs	p.G328fs	LTB4R_ENST00000396782.2_Frame_Shift_Del_p.G328fs|LTB4R_ENST00000345363.3_Frame_Shift_Del_p.G328fs	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	328					cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|muscle contraction (GO:0006936)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	leukotriene B4 receptor activity (GO:0001632)|leukotriene receptor activity (GO:0004974)|nucleotide binding (GO:0000166)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		CTAGGAGCGGCCCCGCCGCTC	0.706																																						ENST00000396789.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8						c.(982-984)ggfs		leukotriene B4 receptor							3	3	3					14																	24785841		1376	2645	4021	SO:0001589	frameshift_variant	1241				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding	g.chr14:24785841delC	X98356	CCDS9626.1	14q11.2-q12	2012-08-10			ENSG00000213903	ENSG00000213903		"GPCR / Class A : Leukotriene receptors"	6713	protein-coding gene	gene with protein product		601531		P2RY7, GPR16, CMKRL1		8921391, 8702478	Standard	NM_181657		Approved	BLTR, P2Y7, LTB4R1	uc001wos.3	Q15722	OTTHUMG00000029346	ENST00000396789.4:c.984delC	14.37:g.24785841delC	ENSP00000380008:p.Gly328fs					LTB4R_ENST00000396782.2_Frame_Shift_Del_p.G328fs|LTB4R_ENST00000345363.3_Frame_Shift_Del_p.G328fs	p.G328fs	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	2	2709	+			328					Q13305|Q53XV5|Q92641|Q9BSU5	Frame_Shift_Del	DEL	ENST00000396789.4	37	c.984delC	CCDS9626.1																																																																																				0.706	LTB4R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073198.4			2	4						2	4	---	---	---	---	-	24785841	C	-	24785841	7	5	52	1	0	1	0	1	0	0	0	0	9071	726	26	0	986	0	LTB4R	14	24785841	Frame_Shift_Del	DEL	C	TCGA-CE-A483-01A-11D-A23U-08		24785841	82563699	7	1245											
KRT16	3868	broad.mit.edu	37	chr17	39768695	39768695	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaccaccatatcctcccccGaagccactaccaaagctgct	4	20	0	0	rs377639708	byFrequency	TCGA-CE-A483-01A-11D-A23U-08	TCGA-CE-A483-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc9603f-fb8b-4a6c-b048-f6bd6956eb0f	22aacc1b-445f-4882-909b-cccc9f1f90cb	g.chr17:39768695G>A	ENST00000301653.4	-	1	310	c.246C>T	c.(244-246)ttC>ttT	p.F82F		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	82	Head.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				atcctcccccgaagccactac	0.642													g|||	5	0.000998403	0.0038	0	5008	,	,		14847	0		0	False		,,,				2504	0					ENST00000301653.4																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(244-246)ttC>ttT		keratin 16							84	80	82					17																	39768695		2203	4300	6503	SO:0001819	synonymous_variant	3868				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39768695G>A	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"-", "Intermediate filaments type I, keratins (acidic)"	6423	protein-coding gene	gene with protein product	"focal non-epidermolytic palmoplantar keratoderma"	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.246C>T	17.37:g.39768695G>A							p.F82F	NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN			1	310	-		Breast(137;0.000307)	82			Head.		A8K488|P30654|Q16402|Q9UBG8	Silent	SNP	ENST00000301653.4	37	c.246C>T	CCDS11401.1																																																																																				0.642	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	NM_005557		3	28	0	0	0	1	0	3	28					A	39768695	G	A	39768695	2	1	52	1	0	0	0	0	0	0	0	1	8453	1049	37	1		1	KRT16	17	39768695	Silent	SNP	G	TCGA-CE-A483-01A-11D-A23U-08		39768695	41426515	8	1246											
IGLL1	3543	broad.mit.edu	37	chr22	23922291	23922293	+	In_Frame_Del	DEL	CAG	CAG	-													tgggttaccacggccagaccCagcagcagcaggggccagcg							TCGA-CE-A483-01A-11D-A23U-08	TCGA-CE-A483-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc9603f-fb8b-4a6c-b048-f6bd6956eb0f	22aacc1b-445f-4882-909b-cccc9f1f90cb	g.chr22:23922291_23922293delCAG	ENST00000330377.2	-	1	202_204	c.85_87delCTG	c.(85-87)ctgdel	p.L29del	KB-208E9.1_ENST00000608615.1_lincRNA|IGLL1_ENST00000249053.3_In_Frame_Del_p.L29del	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	29					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						CGGCCAGACCCAGCAGCAGCAGG	0.719																																						ENST00000330377.2																			0				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						c.(85-87)del		immunoglobulin lambda-like polypeptide 1																																				SO:0001651	inframe_deletion	3543				immune response	extracellular region|membrane		g.chr22:23922291_23922293delCAG	X52204	CCDS13809.1, CCDS13810.1	22q11.23	2014-09-17			ENSG00000128322	ENSG00000128322		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	5870	protein-coding gene	gene with protein product		146770		IGLL		3139558, 2511029	Standard	NM_020070		Approved	IGVPB, IGL5, 14.1, CD179B	uc002zxd.3	P15814	OTTHUMG00000150673	ENST00000330377.2:c.85_87delCTG	22.37:g.23922300_23922302delCAG	ENSP00000329312:p.Leu29del					IGLL1_ENST00000249053.3_In_Frame_Del_p.L29del	p.L29del	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN			1	202_204	-			29					Q0P681	In_Frame_Del	DEL	ENST00000330377.2	37	c.85_87delCTG	CCDS13809.1																																																																																				0.719	IGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319569.1	NM_020070		2	4						2	4	---	---	---	---	-	23922293	CAG	-	23922291	7	5	52	1	0	1	0	1	0	0	0	0	7593	581	21	0	566	0	IGLL1	22	23922291	In_Frame_Del	DEL	CAG	TCGA-CE-A483-01A-11D-A23U-08		23922291	27382275	9	1247											
PINK1	65018	broad.mit.edu	37	chr1	20975019	20975019	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggctgcccctggctggtgaTcgcagattttggctgctgcc	14	13	0	2			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr1:20975019T>C	ENST00000321556.4	+	6	1239	c.1145T>C	c.(1144-1146)aTc>aCc	p.I382T	PINK1-AS_ENST00000451424.1_RNA|PINK1_ENST00000492302.1_3'UTR	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	382	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				activation of protein kinase B activity (GO:0032148)|cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|intracellular signal transduction (GO:0035556)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway (GO:1903384)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|peptidyl-serine autophosphorylation (GO:0036289)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of peptidase activity (GO:0010952)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein complex assembly (GO:0043254)|regulation of protein ubiquitination (GO:0031396)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|TORC2 signaling (GO:0038203)|ubiquitin-dependent protein catabolic process (GO:0006511)	astrocyte projection (GO:0097449)|axon (GO:0030424)|cell body (GO:0044297)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|Lewy body (GO:0097413)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|C3HC4-type RING finger domain binding (GO:0055131)|calcium-dependent protein kinase activity (GO:0010857)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)|protein kinase B binding (GO:0043422)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGGCTGGTGATCGCAGATTTT	0.602																																					Esophageal Squamous(145;853 1803 8146 34412 35011)	ENST00000321556.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14						c.(1144-1146)aTc>aCc		PTEN induced putative kinase 1							54	49	51					1																	20975019		2203	4300	6503	SO:0001583	missense	65018				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding	g.chr1:20975019T>C	AB053323	CCDS211.1	1p36.12	2011-07-21			ENSG00000158828	ENSG00000158828		"Parkinson disease"	14581	protein-coding gene	gene with protein product		608309	"Parkinson disease (autosomal recessive) 6"	PARK6		11494141, 15349860	Standard	NM_032409		Approved		uc001bdm.3	Q9BXM7	OTTHUMG00000002841	ENST00000321556.4:c.1145T>C	1.37:g.20975019T>C	ENSP00000364204:p.Ile382Thr					PINK1_ENST00000492302.1_3'UTR|PINK1-AS_ENST00000451424.1_RNA	p.I382T	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	6	1239	+		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	382			Protein kinase.		Q8N6T9|Q8NBU3|Q96DE4	Missense_Mutation	SNP	ENST00000321556.4	37	c.1145T>C	CCDS211.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.485411	0.84854	.	.	ENSG00000158828	ENST00000321556	T	0.79653	-1.29	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.147598	0.64402	D	0.000012	D	0.91656	0.7363	M	0.94142	3.5	0.58432	D	0.999998	D;D	0.64830	0.994;0.993	P;D	0.65140	0.908;0.932	D	0.93496	0.6840	10	0.87932	D	0	-12.4003	13.214	0.59844	0.0:0.0:0.0:1.0	.	75;382	Q9BXM7-2;Q9BXM7	.;PINK1_HUMAN	T	382	ENSP00000364204:I382T	ENSP00000364204:I382T	I	+	2	0	PINK1	20847606	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	7.136000	0.77285	2.371000	0.80710	0.533000	0.62120	ATC		0.602	PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007954.1	NM_032409		9	25	0	0	0	1	0	9	25					C	20975019	T	C	20975019	3	2	53	1	0	0	0	0	1	0	0	0	11932	1435	50	3	1167	3	PINK1	1	20975019	Missense_Mutation	SNP	T	TCGA-CE-A484-01A-11D-A23U-08		20975019	228275602	1	1248											
DPYD	1806	broad.mit.edu	37	chr1	97771737	97771737	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagtcaagttcttaccttcCtttgcagctcttgcgatgct	7	12	3	0			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr1:97771737C>T	ENST00000370192.3	-	17	2275	c.2175G>A	c.(2173-2175)aaG>aaA	p.K725K	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	725					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TCTTACCTTCCTTTGCAGCTC	0.438																																						ENST00000370192.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(2173-2175)aaG>aaA		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Enfuvirtide(DB00109)						216	220	219					1																	97771737		2203	4300	6503	SO:0001819	synonymous_variant	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:97771737C>T	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2175G>A	1.37:g.97771737C>T						DPYD-AS1_ENST00000422980.1_RNA	p.K725K	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	17	2275	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	725					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Silent	SNP	ENST00000370192.3	37	c.2175G>A	CCDS30777.1																																																																																				0.438	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		11	224	0	0	0	1	0	11	224					T	97771737	C	T	97771737	2	4	53	1	0	0	0	0	0	0	0	1	4745	680	24	2		2	DPYD	1	97771737	Silent	SNP	C	TCGA-CE-A484-01A-11D-A23U-08	76796718	97771737	151478884	2	1249											
SH2D2A	9047	broad.mit.edu	37	chr1	156779137	156779137	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcccatggcatagaaagctAtgggttcatcaggctcattg	12	9	3	1			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr1:156779137A>G	ENST00000368199.3	-	7	1013	c.860T>C	c.(859-861)aTa>aCa	p.I287T	SH2D2A_ENST00000368198.3_Missense_Mutation_p.I269T|SH2D2A_ENST00000392306.2_Missense_Mutation_p.I297T	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	287	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)					ATAGAAAGCTATGGGTTCATC	0.612																																						ENST00000392306.2																			0				endometrium(1)|large_intestine(2)|lung(15)	18						c.(889-891)aTa>aCa		SH2 domain containing 2A							102	106	105					1																	156779137		2203	4300	6503	SO:0001583	missense	9047				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:156779137A>G	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.860T>C	1.37:g.156779137A>G	ENSP00000357182:p.Ile287Thr					SH2D2A_ENST00000368198.3_Missense_Mutation_p.I269T|SH2D2A_ENST00000368199.3_Missense_Mutation_p.I287T	p.I297T	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN			7	1029	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		287			Pro-rich.		O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Missense_Mutation	SNP	ENST00000368199.3	37	c.890T>C	CCDS1159.1	.	.	.	.	.	.	.	.	.	.	A	17.43	3.388170	0.61956	.	.	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	T;T;T	0.70516	-0.42;-0.49;0.06	3.77	3.77	0.43336	.	0.413210	0.24407	N	0.038786	T	0.66489	0.2794	L	0.32530	0.975	0.32570	N	0.529975	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.85130	0.997;0.994;0.994	T	0.66988	-0.5784	10	0.45353	T	0.12	-6.512	11.73	0.51730	1.0:0.0:0.0:0.0	.	297;269;287	Q9NP31-2;Q5VZS4;Q9NP31	.;.;SH22A_HUMAN	T	287;269;297	ENSP00000357182:I287T;ENSP00000357181:I269T;ENSP00000376123:I297T	ENSP00000357181:I269T	I	-	2	0	SH2D2A	155045761	0.998000	0.40836	0.998000	0.56505	0.823000	0.46562	4.943000	0.63554	1.696000	0.51158	0.459000	0.35465	ATA		0.612	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975		8	123	0	0	0	1	0	8	123					G	156779137	A	G	156779137	3	3	53	1	0	0	0	0	1	0	0	0	14232	449	16	3	317	3	SH2D2A	1	156779137	Missense_Mutation	SNP	A	TCGA-CE-A484-01A-11D-A23U-08	59007400	156779137	92471484	3	1250											
NAV1	89796	broad.mit.edu	37	chr1	201751394	201751394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgatgctggtcgggaccGcctgagtgatgctaagaagc	14	10	1	4			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr1:201751394G>A	ENST00000367296.4	+	6	2174	c.1754G>A	c.(1753-1755)cGc>cAc	p.R585H	NAV1_ENST00000367302.1_Missense_Mutation_p.R598H|NAV1_ENST00000295624.6_Missense_Mutation_p.R585H|NAV1_ENST00000367300.3_Missense_Mutation_p.R585H|NAV1_ENST00000367295.1_Missense_Mutation_p.R194H|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Missense_Mutation_p.R585H	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	585					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GGTCGGGACCGCCTGAGTGAT	0.587																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(1753-1755)cGc>cAc		neuron navigator 1							79	83	82					1																	201751394		2203	4300	6503	SO:0001583	missense	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201751394G>A	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"neuron navigator-1", "pore membrane and/or filament interacting like protein 3"	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.1754G>A	1.37:g.201751394G>A	ENSP00000356265:p.Arg585His					IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Missense_Mutation_p.R194H|NAV1_ENST00000295624.6_Missense_Mutation_p.R585H|NAV1_ENST00000367302.1_Missense_Mutation_p.R598H|NAV1_ENST00000367300.3_Missense_Mutation_p.R585H|NAV1_ENST00000367297.4_Missense_Mutation_p.R585H	p.R585H	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN			6	2174	+			585					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	c.1754G>A	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	G	15.02	2.710396	0.48517	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000391966;ENST00000367295	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	5.28	5.28	0.74379	.	0.050977	0.85682	D	0.000000	T	0.44117	0.1278	N	0.04508	-0.205	0.44660	D	0.997646	B;B;D;B	0.89917	0.064;0.058;1.0;0.01	B;B;D;B	0.79784	0.005;0.032;0.993;0.003	T	0.54583	-0.8272	10	0.39692	T	0.17	-27.9338	18.7035	0.91629	0.0:0.0:1.0:0.0	.	194;585;93;585	Q8NEY1-5;Q8NEY1;A8MYI2;Q8NEY1-3	.;NAV1_HUMAN;.;.	H	598;585;585;585;585;93;194	ENSP00000356271:R598H;ENSP00000356265:R585H;ENSP00000295624:R585H;ENSP00000356266:R585H;ENSP00000356269:R585H;ENSP00000356264:R194H	ENSP00000295624:R585H	R	+	2	0	NAV1	200018017	1.000000	0.71417	0.986000	0.45419	0.736000	0.42039	7.374000	0.79633	2.755000	0.94549	0.655000	0.94253	CGC		0.587	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		4	82	0	0	0	1	0	4	82					A	201751394	G	A	201751394	3	1	53	1	0	0	0	0	1	0	0	0	10183	1087	38	1	1833	1	NAV1	1	201751394	Missense_Mutation	SNP	G	TCGA-CE-A484-01A-11D-A23U-08	44972257	201751394	47499227	4	1251											
ANKRD56	345079	broad.mit.edu	37	chr4	77817854	77817854	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagctgacaacgaatgctGcgaaagacagtcaatgaagg	12	8	1	3			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr4:77817854G>A	ENST00000334306.2	-	1	1148	c.1149C>T	c.(1147-1149)cgC>cgT	p.R383R		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	383																	AACGAATGCTGCGAAAGACAG	0.572																																						ENST00000334306.2																			0											c.(1147-1149)cgC>cgT		sosondowah ankyrin repeat domain family member B							72	78	76					4																	77817854		2203	4300	6503	SO:0001819	synonymous_variant	345079							g.chr4:77817854G>A		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"Ankyrin repeat domain containing"	32958	protein-coding gene	gene with protein product			"ankyrin repeat domain 56"	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.1149C>T	4.37:g.77817854G>A							p.R383R	NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN			1	1148	-			383					B2RP29	Silent	SNP	ENST00000334306.2	37	c.1149C>T	CCDS34017.1																																																																																				0.572	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		35	58	0	0	0	1	0	35	58					A	77817854	G	A	77817854	2	1	53	1	0	0	0	0	0	0	0	1	682	1306	46	2		2	ANKRD56	4	77817854	Silent	SNP	G	TCGA-CE-A484-01A-11D-A23U-08		77817854	113336422	5	1252											
PPID	5481	broad.mit.edu	37	chr4	159644365	159644365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actccgctcacctcgctcccCtccgatgtccacgtcaaaga	6	19	2	1			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr4:159644365C>T	ENST00000307720.3	-	1	183	c.76G>A	c.(76-78)Ggg>Agg	p.G26R		NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	26	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				apoptotic process (GO:0006915)|cellular response to UV-A (GO:0071492)|chaperone-mediated protein folding (GO:0061077)|lipid particle organization (GO:0034389)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein secretion (GO:0050714)|positive regulation of viral genome replication (GO:0045070)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|protein transport (GO:0015031)|viral release from host cell (GO:0019076)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|estrogen receptor binding (GO:0030331)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|transcription factor binding (GO:0008134)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		CCTCGCTCCCCTCCGATGTCC	0.632																																						ENST00000307720.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(76-78)Ggg>Agg		peptidylprolyl isomerase D							60	55	56					4																	159644365		2203	4300	6503	SO:0001583	missense	5481				protein folding	cytoplasm|intermediate filament cytoskeleton	cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity	g.chr4:159644365C>T		CCDS3801.1	4q31.3	2013-01-10	2008-10-24		ENSG00000171497	ENSG00000171497		"Tetratricopeptide (TTC) repeat domain containing"	9257	protein-coding gene	gene with protein product	"cyclophilin 40"	601753	"peptidylprolyl isomerase D (cyclophilin D)"			8509368	Standard	NM_005038		Approved	CYP-40	uc003iqc.3	Q08752	OTTHUMG00000161927	ENST00000307720.3:c.76G>A	4.37:g.159644365C>T	ENSP00000303754:p.Gly26Arg						p.G26R	NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN		COAD - Colon adenocarcinoma(41;0.0159)	1	183	-	all_hematologic(180;0.24)		26			PPIase cyclophilin-type.		B2R9V2	Missense_Mutation	SNP	ENST00000307720.3	37	c.76G>A	CCDS3801.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735011	0.69189	.	.	ENSG00000171497	ENST00000307720	T	0.23147	1.92	4.38	3.54	0.40534	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.000000	0.41605	D	0.000844	T	0.34395	0.0896	M	0.83012	2.62	0.58432	D	0.999996	B	0.14012	0.009	B	0.22152	0.038	T	0.37244	-0.9714	10	0.62326	D	0.03	-1.0199	12.8371	0.57780	0.0:0.9187:0.0:0.0813	.	26	Q08752	PPID_HUMAN	R	26	ENSP00000303754:G26R	ENSP00000303754:G26R	G	-	1	0	PPID	159863815	0.995000	0.38212	0.992000	0.48379	0.995000	0.86356	6.148000	0.71788	1.449000	0.47699	0.655000	0.94253	GGG		0.632	PPID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366436.1	NM_005038		17	12	0	0	0	1	0	17	12					T	159644365	C	T	159644365	3	4	53	1	0	0	0	0	1	0	0	0	12321	681	24	2	1076	2	PPID	4	159644365	Missense_Mutation	SNP	C	TCGA-CE-A484-01A-11D-A23U-08	81826511	159644365	31509911	6	1253											
BDP1	55814	broad.mit.edu	37	chr5	70828156	70828156	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttgaaataactgtgaatgtcCcagatgtaggatgcatagct	10	6	0	3			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr5:70828156C>G	ENST00000358731.4	+	26	6057	c.5794C>G	c.(5794-5796)Cca>Gca	p.P1932A	BDP1_ENST00000380675.2_Missense_Mutation_p.P69A	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1932					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TGTGAATGTCCCAGATGTAGG	0.338																																						ENST00000358731.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(5794-5796)Cca>Gca		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB							112	103	106					5																	70828156		1873	4107	5980	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70828156C>G	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.5794C>G	5.37:g.70828156C>G	ENSP00000351575:p.Pro1932Ala					BDP1_ENST00000380675.2_Missense_Mutation_p.P69A	p.P1932A	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	26	6057	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	1932					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.5794C>G	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	C	9.620	1.133468	0.21041	.	.	ENSG00000145734	ENST00000358731;ENST00000451951;ENST00000380675;ENST00000545546	T;T	0.10288	2.89;2.89	5.63	3.78	0.43462	.	0.436137	0.22438	N	0.060056	T	0.08403	0.0209	L	0.38175	1.15	0.23515	N	0.997514	P;B	0.36683	0.565;0.048	B;B	0.33690	0.168;0.015	T	0.24657	-1.0154	10	0.30078	T	0.28	.	9.4113	0.38494	0.1432:0.4781:0.3787:0.0	.	1932;1932	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	A	1932;1512;69;69	ENSP00000351575:P1932A;ENSP00000370050:P69A	ENSP00000351575:P1932A	P	+	1	0	BDP1	70863912	0.968000	0.33430	0.904000	0.35570	0.998000	0.95712	0.779000	0.26746	0.630000	0.30394	0.655000	0.94253	CCA		0.338	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		12	14	0	0	0	1	0	12	14					G	70828156	C	G	70828156	3	3	53	1	0	0	0	0	1	0	0	0	1395	623	22	4	5896	4	BDP1	5	70828156	Missense_Mutation	SNP	C	TCGA-CE-A484-01A-11D-A23U-08		70828156	110087104	7	1254											
PCDHB10	56126	broad.mit.edu	37	chr5	140574155	140574155	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcctctcccggaggcggCcccggcccaggcccaggccg	14	21	1	0	rs201475017		TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr5:140574155C>T	ENST00000239446.4	+	1	2214	c.2030C>T	c.(2029-2031)gCc>gTc	p.A677V		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	677					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(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGGAGGCGGCCCCGGCCCAG	0.687																																						ENST00000239446.4																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(2029-2031)gCc>gTc				C	VAL/ALA	0,3800		0,0,1900	28	38	35		2030	1.8	0.1	5		35	5,7517		1,3,3757	no	missense	PCDHB10	NM_018930.3	64	1,3,5657	TT,TC,CC		0.0665,0.0,0.0442	benign	677/801	140574155	5,11317	1900	3761	5661	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140574155C>T	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"Cadherins / Protocadherins : Clustered"	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.2030C>T	5.37:g.140574155C>T	ENSP00000239446:p.Ala677Val						p.A677V	NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2214	+			677					Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.2030C>T	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	c	9.898	1.206178	0.22205	0.0	6.65E-4	ENSG00000120324	ENST00000239446	T	0.50277	0.75	2.66	1.78	0.24846	.	.	.	.	.	T	0.49575	0.1565	M	0.85777	2.775	0.09310	N	1	B	0.26775	0.159	B	0.30105	0.111	T	0.47611	-0.9104	9	0.41790	T	0.15	.	6.091	0.19995	0.0:0.6429:0.0:0.3571	.	677	Q9UN67	PCDBA_HUMAN	V	677	ENSP00000239446:A677V	ENSP00000239446:A677V	A	+	2	0	PCDHB10	140554339	0.002000	0.14202	0.092000	0.20876	0.063000	0.16089	0.878000	0.28126	0.449000	0.26747	-0.708000	0.03648	GCC		0.687	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		6	19	0	0	0	1	0	6	19					T	140574155	C	T	140574155	3	4	53	1	0	0	0	0	1	0	0	0	11535	739	26	2	2032	2	PCDHB10	5	140574155	Missense_Mutation	SNP	C	TCGA-CE-A484-01A-11D-A23U-08	69745999	140574155	40341105	8	1255											
HLA-B	3106	broad.mit.edu	37	chr6	31323335	31323335	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agggtggcctcatggtcagaGatggggtggtgggtcacgtg	20	6	3	1			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr6:31323335G>A	ENST00000412585.2	-	4	682	c.654C>T	c.(652-654)atC>atT	p.I218I		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	218	Alpha-3.|Ig-like C1-type.				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						CATGGTCAGAGATGGGGTGGT	0.582									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.(652-654)atC>atT		major histocompatibility complex, class I, B							84	87	86					6																	31323335		2203	4300	6503	SO:0001819	synonymous_variant	3106	Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	;Lichen Sclerosis, Familial				g.chr6:31323335G>A	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.654C>T	6.37:g.31323335G>A							p.I218I	NM_005514.6	NP_005505.2					4	682	-								Q29764	Silent	SNP	ENST00000412585.2	37	c.654C>T	CCDS34394.1																																																																																				0.582	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		55	52	0	0	0	1	0	55	52					A	31323335	G	A	31323335	2	1	53	1	0	0	0	0	0	0	0	1	7196	932	33	2		2	HLA-B	6	31323335	Silent	SNP	G	TCGA-CE-A484-01A-11D-A23U-08		31323335	139791732	9	1256											
MICA	100507436	broad.mit.edu	37	chr6	31378387	31378387	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgcagtcagggtttctTgctgaggtacatctggatgg	14	7	4	1	rs1063631|rs386699190	byFrequency	TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr6:31378387T>C	ENST00000449934.2	+	2	192	c.138T>C	c.(136-138)ctT>ctC	p.L46L	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				CAGGGTTTCTTGCTGAGGTAC	0.532													c|||	1829	0.365216	0.4788	0.4078	5008	,	,		19543	0.3016		0.3141	False		,,,				2504	0.2996					ENST00000449934.2																			0				breast(1)|endometrium(3)|kidney(1)	5						c.(136-138)ctT>ctC		MHC class I polypeptide-related sequence A		C		573,811		132,309,251	19	21	21		138	-5.8	0.0	6	dbSNP_86	21	881,2301		126,629,836	no	coding-synonymous	MICA	NM_001177519.1		258,938,1087	CC,CT,TT		27.687,41.4017,31.8441		46/333	31378387	1454,3112	692	1591	2283	SO:0001819	synonymous_variant	100507436				antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway	cell surface|cytoplasm|extracellular space|integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding	g.chr6:31378387T>C	L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"Immunoglobulin superfamily / C1-set domain containing"	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.138T>C	6.37:g.31378387T>C						HCP5_ENST00000414046.2_RNA	p.L46L	NM_001177519.1	NP_001170990.1	Q29983	MICA_HUMAN			2	192	+		Ovarian(999;0.0253)	46						Silent	SNP	ENST00000449934.2	37	c.138T>C	CCDS56412.1																																																																																				0.532	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7	NM_001177519		3	34	0	0	0	1	0	3	34					C	31378387	T	C	31378387	2	2	53	1	0	0	0	0	0	0	0	1	9568	1799	63	3		3	MICA	6	31378387	Silent	SNP	T	TCGA-CE-A484-01A-11D-A23U-08	55052	31378387	139736680	10	1257											
BAT5	7920	broad.mit.edu	37	chr6	31656510	31656510	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccctcacctgcacagctGctccgcgttgtttagattga	10	14	1	2			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr6:31656510G>A	ENST00000395952.3	-	14	1402	c.1240C>T	c.(1240-1242)Cag>Tag	p.Q414*	ABHD16A_ENST00000440843.2_Nonsense_Mutation_p.Q381*|ABHD16A_ENST00000375842.4_Nonsense_Mutation_p.Q195*|ABHD16A_ENST00000471644.1_5'UTR|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	414						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						CTGCACAGCTGCTCCGCGTTG	0.582																																						ENST00000375842.4																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						c.(583-585)Cag>Tag		abhydrolase domain containing 16A							34	34	34					6																	31656510		1509	2709	4218	SO:0001587	stop_gained	7920					integral to membrane	hydrolase activity|protein binding	g.chr6:31656510G>A	AF129756	CCDS4713.1, CCDS54988.1	6p21.3	2013-01-17	2010-12-09	2010-12-09	ENSG00000204427	ENSG00000204427		"Abhydrolase domain containing"	13921	protein-coding gene	gene with protein product		142620	"HLA-B associated transcript 5"	BAT5		2911734, 2813433	Standard	NM_021160		Approved	NG26, D6S82E	uc003nvy.2	O95870	OTTHUMG00000031177	ENST00000395952.3:c.1240C>T	6.37:g.31656510G>A	ENSP00000379282:p.Gln414*					ABHD16A_ENST00000440843.2_Nonsense_Mutation_p.Q381*|ABHD16A_ENST00000471644.1_5'UTR|ABHD16A_ENST00000395952.3_Nonsense_Mutation_p.Q414*|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR	p.Q195*			O95870	ABHGA_HUMAN			14	1569	-			414					A2BEY3|B7Z4R6|Q5SRR1|Q5SRR2|Q8WYH0|Q9NW33	Nonsense_Mutation	SNP	ENST00000395952.3	37	c.583C>T	CCDS4713.1	.	.	.	.	.	.	.	.	.	.	G	40	8.222800	0.98714	.	.	ENSG00000204427	ENST00000395952;ENST00000375842;ENST00000440843	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-22.2444	17.2944	0.87166	0.0:0.0:1.0:0.0	.	.	.	.	X	414;195;381	.	ENSP00000365002:Q195X	Q	-	1	0	ABHD16A	31764489	1.000000	0.71417	0.994000	0.49952	0.952000	0.60782	8.138000	0.89613	2.687000	0.91594	0.462000	0.41574	CAG		0.582	ABHD16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076342.4			17	13	0	0	0	1	0	17	13					A	31656510	G	A	31656510	4	1	53	1	0	0	0	0	0	1	0	0	1324	1328	46	2	464	2	BAT5	6	31656510	Nonsense_Mutation	SNP	G	TCGA-CE-A484-01A-11D-A23U-08	278123	31656510	139458557	11	1258											
MICALL2	79778	broad.mit.edu	37	chr7	1484922	1484922	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggaatccacacccatggCccctggctgtcgggggacca	12	16	0	0	rs181998278	byFrequency	TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr7:1484922C>T	ENST00000297508.7	-	6	959	c.784G>A	c.(784-786)Gcc>Acc	p.A262T	MICALL2_ENST00000405088.4_Missense_Mutation_p.A50T	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	262	Mediates targeting to the cell plasma membrane. {ECO:0000250}.|Necessary and sufficient for interaction with actinins. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		ACACCCATGGCCCCTGGCTGT	0.687													C|||	14	0.00279553	0	0	5008	,	,		15052	0.0139		0	False		,,,				2504	0					ENST00000297508.7																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19						c.(784-786)Gcc>Acc		MICAL-like 2							19	22	21					7																	1484922		2180	4276	6456	SO:0001583	missense	79778					cytoplasm|cytoskeleton	zinc ion binding	g.chr7:1484922C>T	BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"junctional Rab13-binding protein"					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.784G>A	7.37:g.1484922C>T	ENSP00000297508:p.Ala262Thr					MICALL2_ENST00000405088.4_Missense_Mutation_p.A50T	p.A262T	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)	6	959	-		Ovarian(82;0.0253)	262					D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Missense_Mutation	SNP	ENST00000297508.7	37	c.784G>A	CCDS5324.1	9	0.004120879120879121	0	0.0	0	0.0	9	0.015734265734265736	0	0.0	C	16.63	3.176022	0.57692	.	.	ENSG00000164877	ENST00000405088;ENST00000297508	T;T	0.70749	2.32;-0.51	4.12	3.2	0.36748	.	0.219510	0.22968	N	0.053470	T	0.56217	0.1970	L	0.29908	0.895	0.09310	N	1	D	0.63880	0.993	P	0.59948	0.866	T	0.57613	-0.7781	10	0.56958	D	0.05	.	11.0544	0.47909	0.0:0.8103:0.1897:0.0	.	262	Q8IY33	MILK2_HUMAN	T	50;262	ENSP00000385928:A50T;ENSP00000297508:A262T	ENSP00000297508:A262T	A	-	1	0	MICALL2	1451448	0.000000	0.05858	0.003000	0.11579	0.020000	0.10135	0.124000	0.15728	0.789000	0.33779	0.555000	0.69702	GCC		0.687	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2	NM_182924		17	15	0	0	0	1	0	17	15					T	1484922	C	T	1484922	3	4	53	1	0	0	0	0	1	0	0	0	9574	739	26	2	1978	2	MICALL2	7	1484922	Missense_Mutation	SNP	C	TCGA-CE-A484-01A-11D-A23U-08		1484922	157653741	12	1259											
ABL1	25	broad.mit.edu	37	chr9	133759490	133759492	+	In_Frame_Del	DEL	AAG	AAG	-													acttgttcagcgccttgatcAagaagaagaagaagacagcc					rs201725154		TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr9:133759490_133759492delAAG	ENST00000318560.5	+	11	2194_2196	c.1813_1815delAAG	c.(1813-1815)aagdel	p.K609del		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	609	Poly-Lys.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	CGCCTTGATCAAGAAGAAGAAGA	0.616			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"T, Mis"	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"BCR, ETV6, NUP214"		"CML, ALL, T-ALL"		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(1813-1815)del		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)																																			SO:0001651	inframe_deletion	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133759490_133759492delAAG	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1813_1815delAAG	9.37:g.133759499_133759501delAAG	ENSP00000323315:p.Lys609del						p.K609del	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	11	2194_2196	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	609			Poly-Lys.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	In_Frame_Del	DEL	ENST00000318560.5	37	c.1813_1815delAAG	CCDS35166.1																																																																																				0.616	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		8	133						8	133	---	---	---	---	-	133759492	AAG	-	133759490	7	5	53	1	0	1	0	1	0	0	0	0	92	131	5	0	1995	0	ABL1	9	133759490	In_Frame_Del	DEL	AAG	TCGA-CE-A484-01A-11D-A23U-08		133759490	7453941	13	1260											
KIAA0913	23053	broad.mit.edu	37	chr10	75557769	75557769	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatgcccttggcctgcacaActttgtttctcccaactggc	7	14	1	0			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr10:75557769A>G	ENST00000605216.1	+	19	4095	c.3878A>G	c.(3877-3879)aAc>aGc	p.N1293S	ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.N1293S|RP11-574K11.31_ENST00000603027.1_3'UTR|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.N1260S|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.N1298S|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.N1298S	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1293							zinc ion binding (GO:0008270)										GGCCTGCACAACTTTGTTTCT	0.507																																						ENST00000604729.1																			0											c.(3892-3894)aAc>aGc		zinc finger, SWIM-type containing 8							101	105	104					10																	75557769		2024	4177	6201	SO:0001583	missense	23053							g.chr10:75557769A>G	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"Zinc fingers, SWIM-type"	23528	protein-coding gene	gene with protein product			"KIAA0913"	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.3878A>G	10.37:g.75557769A>G	ENSP00000474748:p.Asn1293Ser					ZSWIM8_ENST00000603114.1_Missense_Mutation_p.N1260S|NDST2_ENST00000456638.1_5'UTR|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.N1298S|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.N1293S|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.N1293S	p.N1298S							19	4190	+								B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37	c.3893A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.66|19.66	3.869198|3.869198	0.72065|0.72065	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000398706|ENST00000412198	T|.	0.57595|.	0.39|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.000000|.	0.64402|.	U|.	0.000001|.	T|T	0.77391|0.77391	0.4123|0.4123	M|M	0.81497|0.81497	2.545|2.545	0.54753|0.54753	D|D	0.999985|0.999985	D;D;D;D|.	0.67145|.	0.996;0.996;0.996;0.996|.	D;D;D;D|.	0.73380|.	0.971;0.98;0.98;0.971|.	T|T	0.79029|0.79029	-0.1970|-0.1970	10|5	0.87932|.	D|.	0|.	-8.0132|-8.0132	15.8006|15.8006	0.78450|0.78450	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1293;1305;1293;1298|.	A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4|.	K0913_HUMAN;.;.;.|.	S|A	1298|568	ENSP00000381693:N1298S|.	ENSP00000381693:N1298S|.	N|T	+|+	2|1	0|0	KIAA0913|KIAA0913	75227775|75227775	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.859000|8.859000	0.92264|0.92264	2.144000|2.144000	0.66660|0.66660	0.460000|0.460000	0.39030|0.39030	AAC|ACT		0.507	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		24	26	0	0	0	1	0	24	26					G	75557769	A	G	75557769	3	3	53	1	0	0	0	0	1	0	0	0	8200	43	2	3	3967	3	KIAA0913	10	75557769	Missense_Mutation	SNP	A	TCGA-CE-A484-01A-11D-A23U-08		75557769	59976978	14	1261											
OR4D5	219875	broad.mit.edu	37	chr11	123810393	123810393	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctctcaggtttgggagcttCggtttgttttcttcactgtt	10	8	4	0	rs373579235		TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr11:123810393C>T	ENST00000307033.2	+	1	144	c.70C>T	c.(70-72)Cgg>Tgg	p.R24W		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		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)		TTGGGAGCTTCGGTTTGTTTT	0.468																																						ENST00000307033.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(70-72)Cgg>Tgg		olfactory receptor, family 4, subfamily D, member 5		C	TRP/ARG	0,4404		0,0,2202	96	93	94		70	3.3	0.1	11		94	1,8597	1.2+/-3.3	0,1,4298	no	missense	OR4D5	NM_001001965.1	101	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	24/319	123810393	1,13001	2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123810393C>T	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"GPCR / Class A : Olfactory receptors"	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.70C>T	11.37:g.123810393C>T	ENSP00000305970:p.Arg24Trp						p.R24W	NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	144	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	24					B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.70C>T	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803677	0.31869	0.0	1.16E-4	ENSG00000171014	ENST00000307033	T	0.00448	7.38	5.28	3.35	0.38373	.	0.325829	0.22061	N	0.065174	T	0.00637	0.0021	L	0.46741	1.465	0.09310	N	1	D	0.76494	0.999	D	0.64776	0.929	T	0.52689	-0.8542	10	0.87932	D	0	-7.0026	7.5182	0.27612	0.4272:0.4975:0.0:0.0753	.	24	Q8NGN0	OR4D5_HUMAN	W	24	ENSP00000305970:R24W	ENSP00000305970:R24W	R	+	1	2	OR4D5	123315603	0.001000	0.12720	0.099000	0.21106	0.594000	0.36715	0.792000	0.26929	0.557000	0.29117	0.655000	0.94253	CGG		0.468	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		40	39	0	0	0	1	0	40	39					T	123810393	C	T	123810393	3	4	53	1	0	0	0	0	1	0	0	0	11057	875	31	1	72	1	OR4D5	11	123810393	Missense_Mutation	SNP	C	TCGA-CE-A484-01A-11D-A23U-08		123810393	11196123	15	1262											
ABCC3	8714	broad.mit.edu	37	chr17	48750437	48750437	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acccactgtccgcggtggacTctcatgtggccaagcacatc	10	15	1	0	rs141577167		TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr17:48750437T>C	ENST00000285238.8	+	18	2427	c.2347T>C	c.(2347-2349)Tct>Cct	p.S783P		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	783	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	CGCGGTGGACTCTCATGTGGC	0.592																																						ENST00000285238.8																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(2347-2349)Tct>Cct		ATP-binding cassette, sub-family C (CFTR/MRP), member 3	Glibenclamide(DB01016)	T	PRO/SER	0,4406		0,0,2203	85	69	74		2347	3.6	1.0	17	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABCC3	NM_003786.3	74	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging	783/1528	48750437	1,13005	2203	4300	6503	SO:0001583	missense	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48750437T>C	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"ATP binding cassette transporters / subfamily C"	54	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter 2"	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.2347T>C	17.37:g.48750437T>C	ENSP00000285238:p.Ser783Pro						p.S783P	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		18	2427	+			783			ABC transporter 1.		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	c.2347T>C	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	T	16.88	3.243501	0.58995	0.0	1.16E-4	ENSG00000108846	ENST00000285238	D	0.90444	-2.67	4.72	3.59	0.41128	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.070853	0.56097	D	0.000026	D	0.83830	0.5339	N	0.11427	0.14	0.58432	D	0.999991	P	0.49961	0.93	P	0.47744	0.556	D	0.84758	0.0760	10	0.87932	D	0	-18.4626	10.7584	0.46251	0.0:0.0:0.305:0.695	.	783	O15438	MRP3_HUMAN	P	783	ENSP00000285238:S783P	ENSP00000285238:S783P	S	+	1	0	ABCC3	46105436	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	1.473000	0.35387	0.855000	0.35359	0.459000	0.35465	TCT		0.592	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		4	52	0	0	0	1	0	4	52					C	48750437	T	C	48750437	3	2	53	1	0	0	0	0	1	0	0	0	54	1551	54	3	2501	3	ABCC3	17	48750437	Missense_Mutation	SNP	T	TCGA-CE-A484-01A-11D-A23U-08		48750437	32444773	16	1263											
INTS2	57508	broad.mit.edu	37	chr17	59989372	59989372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtaaggcatctgtcctgcGccttcctccaagactttctt	8	14	2	1	rs372208858		TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr17:59989372G>A	ENST00000444766.3	-	6	808	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C	INTS2_ENST00000251334.6_Missense_Mutation_p.R237C	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	245					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TCTGTCCTGCGCCTTCCTCCA	0.428																																						ENST00000444766.3																			0				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						c.(733-735)Cgc>Tgc		integrator complex subunit 2		G	CYS/ARG	0,3816		0,0,1908	200	200	200		733	4.8	1.0	17		200	1,8243		0,1,4121	no	missense	INTS2	NM_020748.2	180	0,1,6029	AA,AG,GG		0.0121,0.0,0.0083	probably-damaging	245/1205	59989372	1,12059	1908	4122	6030	SO:0001583	missense	57508				snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	g.chr17:59989372G>A	AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"KIAA1287"	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.733C>T	17.37:g.59989372G>A	ENSP00000414237:p.Arg245Cys					INTS2_ENST00000251334.6_Missense_Mutation_p.R237C	p.R245C	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN			6	808	-			245					Q9ULD3	Missense_Mutation	SNP	ENST00000444766.3	37	c.733C>T	CCDS45750.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398282	0.83120	0.0	1.21E-4	ENSG00000108506	ENST00000444766;ENST00000251334	T	0.44083	0.93	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.55625	0.1932	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	P	0.62382	0.901	T	0.52852	-0.8520	9	.	.	.	-6.8969	18.2392	0.89961	0.0:0.0:1.0:0.0	.	245	Q9H0H0	INT2_HUMAN	C	245;244	ENSP00000414237:R245C	.	R	-	1	0	INTS2	57344154	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.420000	0.97426	2.377000	0.81083	0.655000	0.94253	CGC		0.428	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	NM_020748		24	135	0	0	0	1	0	24	135					A	59989372	G	A	59989372	3	1	53	1	0	0	0	0	1	0	0	0	7778	1087	38	1	2961	1	INTS2	17	59989372	Missense_Mutation	SNP	G	TCGA-CE-A484-01A-11D-A23U-08	11238935	59989372	21205838	17	1264											
FAM108A1	81926	broad.mit.edu	37	chr19	1879997	1879997	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctgcccgagctggcaccGtagccggagtagtcgtagga	16	12	0	0	rs139072903	byFrequency	TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr19:1879997G>A	ENST00000292577.7	-	3	883	c.450C>T	c.(448-450)taC>taT	p.Y150Y	ABHD17A_ENST00000590661.1_Silent_p.Y132Y|ABHD17A_ENST00000250974.9_Silent_p.Y201Y	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	150						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										AGCTGGCACCGTAGCCGGAGT	0.667													g|||	2	0.000399361	0	0	5008	,	,		16277	0		0.002	False		,,,				2504	0					ENST00000292577.7																			0											c.(448-450)taC>taT		abhydrolase domain containing 17A		G	,	0,4398		0,0,2199	31	31	31		450,603	-3.8	0.0	19	dbSNP_134	31	10,8578	791.6+/-407.5	0,10,4284	no	coding-synonymous,coding-synonymous	FAM108A1	NM_001130111.1,NM_031213.3	,	0,10,6483	AA,AG,GG		0.1164,0.0,0.077	,	150/311,201/362	1879997	10,12976	2199	4294	6493	SO:0001819	synonymous_variant	81926							g.chr19:1879997G>A	BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"Abhydrolase domain containing"	28756	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 27", "family with sequence similarity 108, member A1"	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.450C>T	19.37:g.1879997G>A						ABHD17A_ENST00000590661.1_Silent_p.Y132Y|ABHD17A_ENST00000250974.9_Silent_p.Y201Y	p.Y150Y	NM_001130111.1	NP_001123583.1					3	883	-								A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Silent	SNP	ENST00000292577.7	37	c.450C>T	CCDS45902.1																																																																																				0.667	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415556.2	NM_031213		3	35	0	0	0	1	0	3	35					A	1879997	G	A	1879997	2	1	53	1	0	0	0	0	0	0	0	1	5391	1140	40	1		1	FAM108A1	19	1879997	Silent	SNP	G	TCGA-CE-A484-01A-11D-A23U-08		1879997	57248986	18	1265											
PSG2	5670	broad.mit.edu	37	chr19	43576025	43576025	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgtgccggtgggttagagTtcgcgaagcaagacaagtag	15	7	0	2			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr19:43576025T>C	ENST00000406487.1	-	4	889	c.791A>G	c.(790-792)aAc>aGc	p.N264S		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	264	Ig-like C2-type 2.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TGGGTTAGAGTTCGCGAAGCA	0.443																																						ENST00000406487.1																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49						c.(790-792)aAc>aGc		pregnancy specific beta-1-glycoprotein 2							184	194	191					19																	43576025		2202	4299	6501	SO:0001583	missense	5670				cell migration|female pregnancy	extracellular region		g.chr19:43576025T>C		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9519	protein-coding gene	gene with protein product	"pregnancy-specific beta-1 glycoprotein", "pregnancy-specific beta-1-glycoprotein 7", "carcinoembryonic antigen SG8"	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.791A>G	19.37:g.43576025T>C	ENSP00000385706:p.Asn264Ser						p.N264S	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN			4	889	-		Prostate(69;0.00682)	264			Ig-like C2-type 2.		Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	SNP	ENST00000406487.1	37	c.791A>G	CCDS12616.1	.	.	.	.	.	.	.	.	.	.	t	0.367	-0.936400	0.02340	.	.	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	T	0.11169	2.8	1.26	-1.7	0.08159	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03827	0.0108	N	0.05351	-0.065	0.09310	N	1	B;B	0.20261	0.009;0.043	B;B	0.24006	0.044;0.05	T	0.45891	-0.9230	9	0.12430	T	0.62	.	1.6789	0.02827	0.2634:0.0:0.3942:0.3424	.	264;264	B5MCM8;P11465	.;PSG2_HUMAN	S	264	ENSP00000385706:N264S	ENSP00000332984:N264S	N	-	2	0	PSG2	48267865	0.001000	0.12720	0.007000	0.13788	0.008000	0.06430	-0.426000	0.07008	-0.194000	0.10399	-0.869000	0.02991	AAC		0.443	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		86	109	0	0	0	1	0	86	109					C	43576025	T	C	43576025	3	2	53	1	0	0	0	0	1	0	0	0	12655	1725	60	3	224	3	PSG2	19	43576025	Missense_Mutation	SNP	T	TCGA-CE-A484-01A-11D-A23U-08	41696028	43576025	15552958	19	1266											
CHEK2	11200	broad.mit.edu	37	chr22	29121000	29121000	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgacagtgcaatttcagaaTtgttattcaaaggacggcgt	11	6	2	2	rs369223840		TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr22:29121000T>C	ENST00000405598.1	-	5	748	c.557A>G	c.(556-558)aAt>aGt	p.N186S	CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.N186S|CHEK2_ENST00000402731.1_Missense_Mutation_p.N186S|CHEK2_ENST00000348295.3_Missense_Mutation_p.N186S|CHEK2_ENST00000328354.6_Missense_Mutation_p.N186S|CHEK2_ENST00000382578.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.N229S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Intron|CHEK2_ENST00000382566.1_Missense_Mutation_p.N186S			O96017	CHK2_HUMAN	checkpoint kinase 2	186					cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						AATTTCAGAATTGTTATTCAA	0.338			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000382580.2			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			0				central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(685-687)aAt>aGt	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2		T	SER/ASN,SER/ASN,SER/ASN	0,4406		0,0,2203	84	81	82		686,557,557	5.7	1.0	22		82	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense	CHEK2	NM_001005735.1,NM_007194.3,NM_145862.2	46,46,46	0,1,6501	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	229/587,186/544,186/515	29121000	1,13003	2203	4299	6502	SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29121000T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"CHK2 (checkpoint, S.pombe) homolog", "CHK2 checkpoint homolog (S. pombe)"	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.557A>G	22.37:g.29121000T>C	ENSP00000386087:p.Asn186Ser					CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000328354.6_Missense_Mutation_p.N186S|CHEK2_ENST00000404276.1_Missense_Mutation_p.N186S|CHEK2_ENST00000382578.1_Intron|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Missense_Mutation_p.N186S|CHEK2_ENST00000382566.1_Missense_Mutation_p.N186S|CHEK2_ENST00000405598.1_Missense_Mutation_p.N186S|CHEK2_ENST00000403642.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.N186S	p.N229S	NM_001005735.1	NP_001005735.1	O96017	CHK2_HUMAN			5	761	-			186			Protein kinase.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.686A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	16.10	3.027938	0.54790	0.0	1.16E-4	ENSG00000183765	ENST00000348295;ENST00000382566;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000402731;ENST00000439200	D;D;D;D;D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14	5.73	5.73	0.89815	Forkhead-associated (FHA) domain (2);SMAD/FHA domain (1);	0.081689	0.85682	D	0.000000	D	0.91503	0.7317	L	0.58428	1.81	0.58432	D	0.999992	P;D;P;D	0.71674	0.924;0.998;0.94;0.959	P;D;P;P	0.70487	0.589;0.969;0.897;0.835	D	0.90839	0.4722	10	0.39692	T	0.17	-6.3948	15.1907	0.73041	0.0:0.0:0.0:1.0	.	186;186;186;229	O96017-7;O96017-12;O96017;O96017-9	.;.;CHK2_HUMAN;.	S	186;186;186;186;186;229;186;217	ENSP00000329012:N186S;ENSP00000372007:N186S;ENSP00000329178:N186S;ENSP00000385747:N186S;ENSP00000386087:N186S;ENSP00000372023:N229S;ENSP00000384835:N186S;ENSP00000408065:N217S	ENSP00000329178:N186S	N	-	2	0	CHEK2	27451000	1.000000	0.71417	1.000000	0.80357	0.231000	0.25187	5.443000	0.66581	2.184000	0.69523	0.477000	0.44152	AAT		0.338	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		6	23	0	0	0	1	0	6	23					C	29121000	T	C	29121000	3	2	53	1	0	0	0	0	1	0	0	0	3335	1493	52	3	1122	3	CHEK2	22	29121000	Missense_Mutation	SNP	T	TCGA-CE-A484-01A-11D-A23U-08		29121000	22183566	20	1267											
MAGEB6	158809	broad.mit.edu	37	chrX	26212473	26212473	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaaatatgatgtggctgcCgagggtgaagatgaggaaag	15	4	1	4			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chrX:26212473C>T	ENST00000379034.1	+	2	659	c.510C>T	c.(508-510)gcC>gcT	p.A170A		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	170										breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						ATGTGGCTGCCGAGGGTGAAG	0.517																																						ENST00000379034.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(508-510)gcC>gcT		melanoma antigen family B, 6							53	47	49					X																	26212473		2202	4300	6502	SO:0001819	synonymous_variant	158809							g.chrX:26212473C>T	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.510C>T	X.37:g.26212473C>T							p.A170A	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	659	+			170					Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	c.510C>T	CCDS14217.1																																																																																				0.517	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		11	65	0	0	0	1	0	11	65					T	26212473	C	T	26212473	2	4	53	1	0	0	0	0	0	0	0	1	9179	639	23	1		1	MAGEB6	23	26212473	Silent	SNP	C	TCGA-CE-A484-01A-11D-A23U-08		26212473	129058087	21	1268											
SRPX	8406	broad.mit.edu	37	chrX	38016255	38016255	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatccagaagtgcagctgccGttctgacacccacattgacg	10	13	1	3	rs146651232	byFrequency	TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chrX:38016255G>A	ENST00000378533.3	-	8	1089	c.983C>T	c.(982-984)aCg>aTg	p.T328M	SRPX_ENST00000544439.1_Missense_Mutation_p.T308M|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000432886.2_Missense_Mutation_p.T269M|SRPX_ENST00000343800.6_Missense_Mutation_p.T315M|SRPX_ENST00000538295.1_Missense_Mutation_p.T328M|SRPX_ENST00000479015.1_5'UTR	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	328					autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						TGCAGCTGCCGTTCTGACACC	0.498													G|||	1	0.000264901	8e-04	0	3775	,	,		14969	0		0	False		,,,				2504	0					ENST00000378533.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						c.(982-984)aCg>aTg		sushi-repeat containing protein, X-linked		G	MET/THR,MET/THR,MET/THR,MET/THR	5,3828		0,4,1,1627,570	113	94	100		923,806,983,983	6.1	1.0	X	dbSNP_134	100	0,6728		0,0,0,2428,1872	yes	missense,missense,missense,missense	SRPX	NM_001170750.1,NM_001170751.1,NM_001170752.1,NM_006307.4	81,81,81,81	0,4,1,4055,2442	AA,AG,A,GG,G		0.0,0.1304,0.0473	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	308/445,269/406,328/380,328/465	38016255	5,10556	2202	4300	6502	SO:0001583	missense	8406				cell adhesion	cell surface|membrane		g.chrX:38016255G>A	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"sushi-repeat-containing protein, X chromosome", "sushi-repeat-containing protein, X-linked"			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.983C>T	X.37:g.38016255G>A	ENSP00000367794:p.Thr328Met					SRPX_ENST00000538295.1_Missense_Mutation_p.T328M|SRPX_ENST00000432886.2_Missense_Mutation_p.T269M|SRPX_ENST00000479015.1_5'UTR|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Missense_Mutation_p.T315M|SRPX_ENST00000544439.1_Missense_Mutation_p.T308M	p.T328M	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN			8	1089	-			328					A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Missense_Mutation	SNP	ENST00000378533.3	37	c.983C>T	CCDS14245.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.608028	0.66558	0.001304	0.0	ENSG00000101955	ENST00000544439;ENST00000432886;ENST00000538295;ENST00000378533;ENST00000343800	T;T;T;T;T	0.18338	2.26;2.43;2.29;2.24;2.22	6.08	6.08	0.98989	.	0.368405	0.33650	N	0.004686	T	0.32315	0.0825	L	0.55481	1.735	0.46823	D	0.99921	D;D;D;D	0.71674	0.998;0.972;0.975;0.958	P;B;P;B	0.59056	0.851;0.437;0.453;0.265	T	0.00706	-1.1601	10	0.39692	T	0.17	-7.3941	14.3571	0.66745	0.0:0.0:0.8523:0.1477	.	328;269;308;328	F5H4D7;B4DQH5;G3V1L0;P78539	.;.;.;SRPX_HUMAN	M	308;269;328;328;315	ENSP00000440758:T308M;ENSP00000411165:T269M;ENSP00000445034:T328M;ENSP00000367794:T328M;ENSP00000339211:T315M	ENSP00000339211:T315M	T	-	2	0	SRPX	37901199	0.998000	0.40836	0.999000	0.59377	0.993000	0.82548	5.203000	0.65174	2.562000	0.86427	0.600000	0.82982	ACG		0.498	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307		22	34	0	0	0	1	0	22	34					A	38016255	G	A	38016255	3	1	53	1	0	0	0	0	1	0	0	0	15163	1145	40	1	423	1	SRPX	23	38016255	Missense_Mutation	SNP	G	TCGA-CE-A484-01A-11D-A23U-08	11803782	38016255	117254305	22	1269											
TFE3	7030	broad.mit.edu	37	chrX	48888961	48888961	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgctccagggatcgctgcCggctctccaggtctttggag	13	14	2	0			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chrX:48888961C>T	ENST00000315869.7	-	9	1494	c.1235G>A	c.(1234-1236)cGg>cAg	p.R412Q	TFE3_ENST00000487451.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	412	Leucine-zipper.				humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						GGATCGCTGCCGGCTCTCCAG	0.597			T	"SFPQ, ASPSCR1, PRCC, NONO, CLTC"	"papillary renal, alveolar soft part sarcoma, renal"																																	ENST00000315869.7				Dom	yes		X	Xp11.22	7030	T	transcription factor binding to IGHM enhancer 3			E	"SFPQ, ASPSCR1, PRCC, NONO, CLTC"		"papillary renal, alveolar soft part sarcoma, renal"	NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	0				central_nervous_system(1)	1						c.(1234-1236)cGg>cAg		transcription factor binding to IGHM enhancer 3							35	32	33					X																	48888961		2203	4299	6502	SO:0001583	missense	7030				humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chrX:48888961C>T	X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"Basic helix-loop-helix proteins"	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.1235G>A	X.37:g.48888961C>T	ENSP00000314129:p.Arg412Gln					TFE3_ENST00000493583.1_5'UTR	p.R412Q	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN			9	1494	-			412			Leucine-zipper.		A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Missense_Mutation	SNP	ENST00000315869.7	37	c.1235G>A	CCDS14315.3	.	.	.	.	.	.	.	.	.	.	c	24.2	4.508781	0.85282	.	.	ENSG00000068323	ENST00000315869	T	0.16597	2.33	5.64	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.19127	0.0459	M	0.67953	2.075	0.80722	D	1	B	0.31503	0.326	B	0.22601	0.04	T	0.01795	-1.1272	10	0.56958	D	0.05	-19.8376	12.3703	0.55252	0.0:0.9156:0.0:0.0844	.	412	P19532	TFE3_HUMAN	Q	412	ENSP00000314129:R412Q	ENSP00000314129:R412Q	R	-	2	0	TFE3	48775905	0.994000	0.37717	1.000000	0.80357	0.995000	0.86356	3.241000	0.51376	1.140000	0.42260	0.462000	0.41574	CGG		0.597	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2	NM_006521		8	11	0	0	0	1	0	8	11					T	48888961	C	T	48888961	3	4	53	1	0	0	0	0	1	0	0	0	15797	652	23	1	500	1	TFE3	23	48888961	Missense_Mutation	SNP	C	TCGA-CE-A484-01A-11D-A23U-08	10872706	48888961	106381599	23	1270											
ZNF75D	7626	broad.mit.edu	37	chrX	134421632	134421632	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccatttctgtacactgtGtgtatcaccaggattttccc	7	11	2	0			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chrX:134421632G>A	ENST00000370766.3	-	7	3679	c.970C>T	c.(970-972)Cac>Tac	p.H324Y	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.H229Y	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	324					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TGTACACTGTGTGTATCACCA	0.388																																						ENST00000370766.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(970-972)Cac>Tac		zinc finger protein 75D							127	117	120					X																	134421632		2203	4299	6502	SO:0001583	missense	7626				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134421632G>A	S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"Zinc fingers, C2H2-type", "-", "-", "-"	13145	protein-coding gene	gene with protein product		314997	"zinc finger protein 75 (D8C6)"	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.970C>T	X.37:g.134421632G>A	ENSP00000359802:p.His324Tyr					ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.H229Y	p.H324Y	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN			7	3679	-			324					A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Missense_Mutation	SNP	ENST00000370766.3	37	c.970C>T	CCDS14648.1	.	.	.	.	.	.	.	.	.	.	G	0.513	-0.865439	0.02590	.	.	ENSG00000186376	ENST00000370766;ENST00000370764	T;T	0.06528	3.29;3.29	2.54	-2.55	0.06288	.	2.482670	0.01808	N	0.033292	T	0.04137	0.0115	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39683	-0.9602	10	0.56958	D	0.05	.	2.6711	0.05067	0.4178:0.0:0.3137:0.2686	.	324;229	P51815;A6NK62	ZN75D_HUMAN;.	Y	324;229	ENSP00000359802:H324Y;ENSP00000359800:H229Y	ENSP00000359800:H229Y	H	-	1	0	ZNF75D	134249298	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-1.517000	0.02248	-0.895000	0.03920	0.422000	0.28245	CAC		0.388	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058415.1	NM_007131		21	96	0	0	0	1	0	21	96					A	134421632	G	A	134421632	3	1	53	1	0	0	0	0	1	0	0	0	18131	1377	48	2	566	2	ZNF75D	23	134421632	Missense_Mutation	SNP	G	TCGA-CE-A484-01A-11D-A23U-08	85532671	134421632	20848928	24	1271											
FAM82A1	151393	broad.mit.edu	37	chr2	38201247	38201247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctaaggcatttaacacaCgtgtagaggaattaaattta	7	7	0	1	rs138851338	byFrequency	TCGA-CE-A485-01A-11D-A23U-08	TCGA-CE-A485-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe9ef6b-c371-4ed7-b315-29b1b3c5bd24	ec6d75c4-498a-466c-b267-7c73295b1b66	g.chr2:38201247C>T	ENST00000406384.1	+	3	711	c.517C>T	c.(517-519)Cgt>Tgt	p.R173C	RMDN2_ENST00000234195.3_Missense_Mutation_p.R351C|RMDN2_ENST00000417700.2_Missense_Mutation_p.R28C|RMDN2_ENST00000354545.2_Missense_Mutation_p.R173C|RMDN2_ENST00000407257.1_Missense_Mutation_p.R351C|RMDN2-AS1_ENST00000414365.2_RNA	NM_001170792.1	NP_001164263.1	Q96LZ7	RMD2_HUMAN	regulator of microtubule dynamics 2	173						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)											ATTTAACACACGTGTAGAGGA	0.378																																						ENST00000407257.1																			0											c.(1051-1053)Cgt>Tgt		regulator of microtubule dynamics 2		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	134	134	134		517,517,82,1051	-1.1	0.0	2	dbSNP_134	134	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense	FAM82A1	NM_001170791.1,NM_001170792.1,NM_001170793.1,NM_144713.3	180,180,180,180	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,benign,benign	173/411,173/411,28/266,351/574	38201247	2,13004	2203	4300	6503	SO:0001583	missense	151393							g.chr2:38201247C>T	AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841			26567	protein-coding gene	gene with protein product		611872	"family with sequence similarity 82, member A1"	FAM82A, FAM82A1		12477932	Standard	XM_005264161		Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000406384.1:c.517C>T	2.37:g.38201247C>T	ENSP00000386004:p.Arg173Cys					RMDN2_ENST00000234195.3_Missense_Mutation_p.R351C|RMDN2_ENST00000417700.2_Missense_Mutation_p.R28C|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000406384.1_Missense_Mutation_p.R173C|RMDN2_ENST00000354545.2_Missense_Mutation_p.R173C	p.R351C							3	1198	+								A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0	Missense_Mutation	SNP	ENST00000406384.1	37	c.1051C>T	CCDS54351.1	.	.	.	.	.	.	.	.	.	.	C	8.344	0.829328	0.16749	2.27E-4	1.16E-4	ENSG00000115841	ENST00000414644;ENST00000354545;ENST00000406384;ENST00000407257;ENST00000417700;ENST00000234195;ENST00000442857	T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.54	-1.13	0.09775	.	1.109420	0.06678	N	0.767390	T	0.15089	0.0364	N	0.08118	0	0.09310	N	1	B;P;P;B	0.43392	0.19;0.629;0.805;0.4	B;B;B;B	0.19391	0.013;0.025;0.025;0.015	T	0.17715	-1.0360	10	0.62326	D	0.03	-9.0268	4.4717	0.11715	0.1607:0.3411:0.0:0.4982	.	351;28;173;28	Q96LZ7-2;Q96LZ7-4;Q96LZ7;Q96LZ7-3	.;.;RMD2_HUMAN;.	C	173;173;173;351;28;351;28	ENSP00000393705:R173C;ENSP00000346549:R173C;ENSP00000386004:R173C;ENSP00000385049:R351C;ENSP00000392977:R28C;ENSP00000234195:R351C;ENSP00000416367:R28C	ENSP00000234195:R351C	R	+	1	0	FAM82A1	38054751	0.000000	0.05858	0.027000	0.17364	0.268000	0.26511	-0.127000	0.10547	0.063000	0.16370	-0.142000	0.14014	CGT		0.378	RMDN2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325577.1	NM_144713		3	30	0	0	0	1	0	3	30					T	38201247	C	T	38201247	3	4	54	1	0	0	0	0	1	0	0	0	5630	536	19	1	1517	1	FAM82A1	2	38201247	Missense_Mutation	SNP	C	TCGA-CE-A485-01A-11D-A23U-08		38201247	204998126	1	1272											
RASGRF2	5924	broad.mit.edu	37	chr5	80369069	80369069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggaaatggaagaccatcGtgcaggattacatttgttct	11	6	1	1			TCGA-CE-A485-01A-11D-A23U-08	TCGA-CE-A485-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe9ef6b-c371-4ed7-b315-29b1b3c5bd24	ec6d75c4-498a-466c-b267-7c73295b1b66	g.chr5:80369069G>A	ENST00000265080.4	+	5	752	c.685G>A	c.(685-687)Gtg>Atg	p.V229M	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	229	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GAAGACCATCGTGCAGGATTA	0.438																																						ENST00000265080.4																			0				biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(685-687)Gtg>Atg		Ras protein-specific guanine nucleotide-releasing factor 2							166	143	151					5																	80369069		2203	4300	6503	SO:0001583	missense	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80369069G>A	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.685G>A	5.37:g.80369069G>A	ENSP00000265080:p.Val229Met					RASGRF2_ENST00000502677.1_3'UTR	p.V229M	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	5	752	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	229			IQ.		B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.685G>A	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219152	0.79464	.	.	ENSG00000113319	ENST00000265080	T	0.70282	-0.47	5.28	5.28	0.74379	Dbl homology (DH) domain (1);	0.057858	0.64402	D	0.000002	T	0.80737	0.4680	L	0.42245	1.32	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.91635	0.908;0.999	T	0.82180	-0.0585	10	0.87932	D	0	.	19.2749	0.94027	0.0:0.0:1.0:0.0	.	229;229	D6RAS9;O14827	.;RGRF2_HUMAN	M	229	ENSP00000265080:V229M	ENSP00000265080:V229M	V	+	1	0	RASGRF2	80404825	1.000000	0.71417	0.992000	0.48379	0.510000	0.34073	6.683000	0.74533	2.629000	0.89072	0.297000	0.19635	GTG		0.438	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		15	46	0	0	0	1	0	15	46					A	80369069	G	A	80369069	3	1	54	1	0	0	0	0	1	0	0	0	13073	1145	40	1	703	1	RASGRF2	5	80369069	Missense_Mutation	SNP	G	TCGA-CE-A485-01A-11D-A23U-08		80369069	100546191	2	1273											
ZFPM2	23414	broad.mit.edu	37	chr8	106813356	106813356	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactgctgattccgtgatcaActttcaccaacacctgttct	5	14	3	2			TCGA-CE-A485-01A-11D-A23U-08	TCGA-CE-A485-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe9ef6b-c371-4ed7-b315-29b1b3c5bd24	ec6d75c4-498a-466c-b267-7c73295b1b66	g.chr8:106813356A>G	ENST00000407775.2	+	8	1296	c.1046A>G	c.(1045-1047)aAc>aGc	p.N349S	RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.N217S|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Missense_Mutation_p.N217S|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.N80S|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	349					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TCCGTGATCAACTTTCACCAA	0.478																																						ENST00000407775.2																			0				NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(1045-1047)aAc>aGc		zinc finger protein, FOG family member 2							204	198	200					8																	106813356		2029	4207	6236	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106813356A>G	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1046A>G	8.37:g.106813356A>G	ENSP00000384179:p.Asn349Ser					RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.N217S|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.N80S|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.N217S|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA	p.N349S	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	1296	+			349					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.1046A>G	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	A	2.448	-0.327049	0.05350	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.27256	1.68;1.68;1.68;1.68	5.66	1.67	0.24075	Zinc finger, C2H2-like (1);	0.259396	0.43747	N	0.000525	T	0.15782	0.0380	L	0.39633	1.23	0.35031	D	0.758754	B	0.02656	0.0	B	0.04013	0.001	T	0.31308	-0.9948	10	0.07030	T	0.85	.	8.5354	0.33360	0.7352:0.0:0.2648:0.0	.	349	Q8WW38	FOG2_HUMAN	S	349;217;217;80	ENSP00000384179:N349S;ENSP00000430757:N217S;ENSP00000428720:N217S;ENSP00000367733:N80S	ENSP00000367733:N80S	N	+	2	0	ZFPM2	106882532	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	2.104000	0.41815	0.091000	0.17302	0.528000	0.53228	AAC		0.478	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			33	111	0	0	0	1	0	33	111					G	106813356	A	G	106813356	3	3	54	1	0	0	0	0	1	0	0	0	17655	43	2	3	1076	3	ZFPM2	8	106813356	Missense_Mutation	SNP	A	TCGA-CE-A485-01A-11D-A23U-08		106813356	39550666	3	1274											
GYS2	2998	broad.mit.edu	37	chr12	21733368	21733368	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctgagtcttcatattatgctCaaaatatggacctatcagaa	6	8	4	2			TCGA-CE-A485-01A-11D-A23U-08	TCGA-CE-A485-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe9ef6b-c371-4ed7-b315-29b1b3c5bd24	ec6d75c4-498a-466c-b267-7c73295b1b66	g.chr12:21733368C>G	ENST00000261195.2	-	2	465	c.211G>C	c.(211-213)Gag>Cag	p.E71Q		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	71					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ATATTATGCTCAAAATATGGA	0.423																																					Colon(149;9 1820 3690 10544 50424)	ENST00000261195.2																			0				NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(211-213)Gag>Cag		glycogen synthase 2 (liver)							219	203	208					12																	21733368		2203	4300	6503	SO:0001583	missense	2998				glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	g.chr12:21733368C>G		CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.211G>C	12.37:g.21733368C>G	ENSP00000261195:p.Glu71Gln						p.E71Q	NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN			2	465	-			71					A0AVD8	Missense_Mutation	SNP	ENST00000261195.2	37	c.211G>C	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.845854	0.91277	.	.	ENSG00000111713	ENST00000261195	T	0.66280	-0.2	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.75191	0.3816	L	0.51422	1.61	0.80722	D	1	D	0.71674	0.998	D	0.72338	0.977	T	0.73395	-0.3996	10	0.44086	T	0.13	-33.0977	19.1722	0.93583	0.0:1.0:0.0:0.0	.	71	P54840	GYS2_HUMAN	Q	71	ENSP00000261195:E71Q	ENSP00000261195:E71Q	E	-	1	0	GYS2	21624635	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.283000	0.78640	2.763000	0.94921	0.563000	0.77884	GAG		0.423	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957		7	63	0	0	0	1	0	7	63					G	21733368	C	G	21733368	3	3	54	1	0	0	0	0	1	0	0	0	6913	835	29	4	1960	4	GYS2	12	21733368	Missense_Mutation	SNP	C	TCGA-CE-A485-01A-11D-A23U-08		21733368	112118527	4	1275											
DHRS4	10901	broad.mit.edu	37	chr14	24424420	24424420	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggagcggctggtggccaCggtgagctgcagggaaatgg	20	9	0	1	rs537144117	byFrequency	TCGA-CE-A485-01A-11D-A23U-08	TCGA-CE-A485-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe9ef6b-c371-4ed7-b315-29b1b3c5bd24	ec6d75c4-498a-466c-b267-7c73295b1b66	g.chr14:24424420C>T	ENST00000313250.5	+	2	508	c.305C>T	c.(304-306)aCg>aTg	p.T102M	DHRS4_ENST00000382761.3_Splice_Site_p.T84M|DHRS4_ENST00000558263.1_Splice_Site_p.T102M|DHRS4_ENST00000559632.1_Splice_Site_p.T102M|DHRS4_ENST00000308178.8_Splice_Site_p.T84M|DHRS4_ENST00000397074.3_Splice_Site_p.T102M|DHRS4_ENST00000397073.2_Splice_Site_p.T84M|DHRS4_ENST00000397075.3_Splice_Site_p.T102M|DHRS4_ENST00000543741.2_Splice_Site_p.T102M|DHRS4-AS1_ENST00000556379.1_RNA|DHRS4_ENST00000421831.1_Splice_Site_p.T84M|DHRS4_ENST00000558581.1_Splice_Site_p.T102M	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	102				T -> M (in Ref. 1; AAD02292). {ECO:0000305}.	alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)	p.T102M(4)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	CTGGTGGCCACGGTGAGCTGC	0.652													.|||	14	0.00279553	8e-04	0	5008	,	,		13962	0.003		0.004	False		,,,				2504	0.0061					ENST00000313250.5																			4	Substitution - Missense(4)	p.T102M(4)	central_nervous_system(2)|lung(1)|kidney(1)	central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.e2+1		dehydrogenase/reductase (SDR family) member 4	Vitamin A(DB00162)																																			SO:0001630	splice_region_variant	10901					mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity	g.chr14:24424420C>T	AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	16985	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 2"	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.306+1C>T	14.37:g.24424420C>T						DHRS4_ENST00000543741.2_Splice_Site_p.T102_splice|DHRS4_ENST00000397074.3_Splice_Site_p.T102_splice|DHRS4_ENST00000397075.3_Splice_Site_p.T102_splice|DHRS4_ENST00000397073.2_Splice_Site_p.T84_splice|DHRS4_ENST00000382761.3_Splice_Site_p.T84_splice|DHRS4_ENST00000558263.1_Splice_Site_p.T102_splice|DHRS4_ENST00000308178.8_Splice_Site_p.T84_splice|DHRS4_ENST00000559632.1_Splice_Site_p.T102_splice|DHRS4_ENST00000558581.1_Splice_Site_p.T102_splice|DHRS4_ENST00000421831.1_Splice_Site_p.T84_splice	p.T102_splice	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN		GBM - Glioblastoma multiforme(265;0.00962)	2	508	+			102	T -> M (in Ref. 1; AAD02292).				B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Splice_Site	SNP	ENST00000313250.5	37	c.306_splice	CCDS9605.1	.	.	.	.	.	.	.	.	.	.	.	8.197	0.797295	0.16327	.	.	ENSG00000157326	ENST00000313250;ENST00000421831;ENST00000397073;ENST00000308178;ENST00000382761;ENST00000397075;ENST00000397074;ENST00000543741	T;T;D;D;D;D;D;D	0.88201	0.93;0.93;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	3.78	0.837	0.18896	NAD(P)-binding domain (1);	0.264094	0.42294	N	0.000732	D	0.83839	0.5341	M	0.77712	2.385	0.36055	D	0.841007	P;B;B;B;B;B	0.45011	0.848;0.001;0.002;0.065;0.05;0.035	B;B;B;B;B;B	0.34180	0.177;0.002;0.001;0.016;0.064;0.044	T	0.80294	-0.1443	10	0.37606	T	0.19	.	7.6245	0.28204	0.0:0.6987:0.0:0.3013	.	102;102;102;102;102;102	Q9BTZ2-5;F5GWZ1;Q9BTZ2-2;Q9BTZ2-7;Q9BTZ2-4;Q9BTZ2	.;.;.;.;.;DHRS4_HUMAN	M	102;84;84;84;84;102;102;102	ENSP00000326219:T102M;ENSP00000404147:T84M;ENSP00000380263:T84M;ENSP00000311993:T84M;ENSP00000372209:T84M;ENSP00000380265:T102M;ENSP00000380264:T102M;ENSP00000440508:T102M	ENSP00000311993:T84M	T	+	2	0	DHRS4	23494260	0.410000	0.25376	0.968000	0.41197	0.539000	0.34962	-0.130000	0.10498	-0.015000	0.14150	0.479000	0.44913	ACG		0.652	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071857.3		Missense_Mutation	3	31	0	0	0	1	0	3	31					T	24424420	C	T	24424420	5	4	54	1	0	0	0	0	0	0	1	0	4492	550	19	1	311	1	DHRS4	14	24424420	Splice_Site	SNP	C	TCGA-CE-A485-01A-11D-A23U-08		24424420	82925120	5	1276											
CNR2	1269	broad.mit.edu	37	chr1	24201264	24201264	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcacagcatggagcagaaagCaaaggccttcttgacctggt	12	10	1	2			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr1:24201264C>A	ENST00000374472.4	-	2	1005	c.844G>T	c.(844-846)Gct>Tct	p.A282S	CNR2_ENST00000536471.1_Missense_Mutation_p.A282S	NM_001841.2	NP_001832.1	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	282					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of action potential (GO:0045759)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|response to amphetamine (GO:0001975)|response to lipopolysaccharide (GO:0032496)|sensory perception of pain (GO:0019233)	dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)	p.A282T(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Dronabinol(DB00470)|Nabilone(DB00486)	GAGCAGAAAGCAAAGGCCTTC	0.577																																						ENST00000536471.1																			2	Substitution - Missense(2)	p.A282T(2)	endometrium(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26						c.(844-846)Gct>Tct		cannabinoid receptor 2 (macrophage)	Nabilone(DB00486)						92	81	85					1																	24201264		2203	4300	6503	SO:0001583	missense	1269				behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity	g.chr1:24201264C>A	X74328	CCDS245.1	1p	2012-08-08			ENSG00000188822	ENSG00000188822		"GPCR / Class A : Cannabinoid receptors"	2160	protein-coding gene	gene with protein product		605051					Standard	NM_001841		Approved	CB2	uc001bif.3	P34972	OTTHUMG00000013892	ENST00000374472.4:c.844G>T	1.37:g.24201264C>A	ENSP00000363596:p.Ala282Ser					CNR2_ENST00000374472.4_Missense_Mutation_p.A282S	p.A282S			P34972	CNR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	3	1102	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)	282					C6ES44|Q4VBK8|Q5JRH7|Q6B0G7|Q6NSY0	Missense_Mutation	SNP	ENST00000374472.4	37	c.844G>T	CCDS245.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917570	0.92249	.	.	ENSG00000188822	ENST00000374472;ENST00000536471	T;T	0.37058	1.22;1.22	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.56232	0.1971	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.58171	-0.7683	10	0.87932	D	0	.	19.0647	0.93106	0.0:1.0:0.0:0.0	.	282	P34972	CNR2_HUMAN	S	282	ENSP00000363596:A282S;ENSP00000442830:A282S	ENSP00000363596:A282S	A	-	1	0	CNR2	24073851	1.000000	0.71417	0.992000	0.48379	0.924000	0.55760	6.089000	0.71384	2.493000	0.84123	0.557000	0.71058	GCT		0.577	CNR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038949.1	NM_001841		23	57	1	0	1.9806e-07	0.014323	1.00583e-06	23	57					A	24201264	C	A	24201264	3	1	55	1	0	0	0	0	1	0	0	0	3632	710	25	4	242	4	CNR2	1	24201264	Missense_Mutation	SNP	C	TCGA-DE-A0XZ-01A-11D-A17V-08		24201264	225049357	1	1277											
ZSCAN20	7579	broad.mit.edu	37	chr1	33959841	33959841	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttgaaatgaggcatgaggatGaagaccagatttcagagcag	13	5	1	7			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr1:33959841G>C	ENST00000361328.3	+	8	2050	c.1897G>C	c.(1897-1899)Gaa>Caa	p.E633Q		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	633					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GCATGAGGATGAAGACCAGAT	0.438																																						ENST00000361328.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31						c.(1897-1899)Gaa>Caa		zinc finger and SCAN domain containing 20							68	65	66					1																	33959841		1884	4123	6007	SO:0001583	missense	7579				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:33959841G>C	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"-", "Zinc fingers, C2H2-type"	13093	protein-coding gene	gene with protein product		611315	"zinc finger protein 31 (KOX 29)", "zinc finger protein 31"	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.1897G>C	1.37:g.33959841G>C	ENSP00000355053:p.Glu633Gln						p.E633Q	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN			8	2050	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	633					A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	37	c.1897G>C	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722179	0.30503	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	5.75	2.86	0.33363	.	0.204143	0.34088	N	0.004262	T	0.26376	0.0644	L	0.34521	1.04	0.09310	N	1	P;P	0.42203	0.773;0.664	B;B	0.40534	0.332;0.178	T	0.07443	-1.0772	9	0.33141	T	0.24	-3.3068	9.9071	0.41384	0.2302:0.0:0.7698:0.0	.	632;633	P17040-3;P17040	.;ZSC20_HUMAN	Q	633;567;567	.	ENSP00000324450:E633Q	E	+	1	0	ZSCAN20	33732428	0.925000	0.31364	0.627000	0.29227	0.342000	0.28953	1.722000	0.38042	0.785000	0.33685	-0.258000	0.10820	GAA		0.438	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		13	40	0	0	0	0.003163	0	13	40					C	33959841	G	C	33959841	3	2	55	1	0	0	0	0	1	0	0	0	18229	1291	45	4	1923	4	ZSCAN20	1	33959841	Missense_Mutation	SNP	G	TCGA-DE-A0XZ-01A-11D-A17V-08	9758577	33959841	215290780	2	1278											
CRP	1401	broad.mit.edu	37	chr1	159683629	159683629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactccacgatccctgaggCggactcccagcttgtacaaa	9	14	0	1			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr1:159683629C>T	ENST00000255030.5	-	2	464	c.361G>A	c.(361-363)Gcc>Acc	p.A121T	CRP_ENST00000368112.1_Intron|CRP_ENST00000368110.1_Intron|CRP_ENST00000437342.1_5'UTR|CRP_ENST00000343919.2_Intron|CRP_ENST00000473196.1_5'Flank|CRP_ENST00000368111.1_Intron	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	121	Pentaxin.				acute-phase response (GO:0006953)|aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|complement activation, classical pathway (GO:0006958)|defense response to Gram-positive bacterium (GO:0050830)|inflammatory response (GO:0006954)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|opsonization (GO:0008228)|positive regulation of dendrite development (GO:1900006)|protein polymerization (GO:0051258)|regulation of interleukin-8 secretion (GO:2000482)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lead ion (GO:0010288)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)	calcium ion binding (GO:0005509)|cholesterol binding (GO:0015485)|choline binding (GO:0033265)|complement component C1q binding (GO:0001849)|low-density lipoprotein particle binding (GO:0030169)			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				inhaled insulin(DB05278)	ATCCCTGAGGCGGACTCCCAG	0.502																																						ENST00000255030.5																			0				breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22						c.(361-363)Gcc>Acc		C-reactive protein, pentraxin-related	Atorvastatin(DB01076)|Bezafibrate(DB01393)						135	139	138					1																	159683629		2203	4300	6503	SO:0001583	missense	1401				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding	g.chr1:159683629C>T	M11725	CCDS30911.1	1q23.2	2013-05-13			ENSG00000132693	ENSG00000132693			2367	protein-coding gene	gene with protein product	"pentraxin 1"	123260				3840479, 6857266	Standard	NM_000567		Approved	PTX1	uc001ftw.3	P02741	OTTHUMG00000035344	ENST00000255030.5:c.361G>A	1.37:g.159683629C>T	ENSP00000255030:p.Ala121Thr					CRP_ENST00000368111.1_Intron|CRP_ENST00000343919.2_Intron|CRP_ENST00000437342.1_5'UTR|CRP_ENST00000368112.1_Intron|CRP_ENST00000368110.1_Intron	p.A121T	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN			2	464	-	all_hematologic(112;0.0429)		121			Pentaxin.		A8K078|D3DVD9|D3DVE0|Q08AK3|Q8WW75	Missense_Mutation	SNP	ENST00000255030.5	37	c.361G>A	CCDS30911.1	.	.	.	.	.	.	.	.	.	.	C	4.151	0.026465	0.08054	.	.	ENSG00000132693	ENST00000255030	T	0.58060	0.36	4.73	-1.95	0.07548	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	2.568440	0.01740	N	0.029331	T	0.09642	0.0237	N	0.13272	0.32	0.18873	N	0.999985	B	0.27932	0.194	B	0.24269	0.052	T	0.02852	-1.1102	10	0.12766	T	0.61	1.9559	1.7616	0.02993	0.1305:0.43:0.127:0.3125	.	121	P02741	CRP_HUMAN	T	121	ENSP00000255030:A121T	ENSP00000255030:A121T	A	-	1	0	CRP	157950253	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-3.605000	0.00417	-0.829000	0.04268	-0.761000	0.03458	GCC		0.502	CRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085553.1	NM_000567		41	184	0	0	0	0.006999	0	41	184					T	159683629	C	T	159683629	3	4	55	1	0	0	0	0	1	0	0	0	3895	768	27	1	317	1	CRP	1	159683629	Missense_Mutation	SNP	C	TCGA-DE-A0XZ-01A-11D-A17V-08	125723788	159683629	89566992	3	1279											
DUSP27	92235	broad.mit.edu	37	chr1	167095889	167095889	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagaggaggcggcagacagGagctcagaagcagggagcag	19	7	1	3	rs371011111	byFrequency	TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr1:167095889G>A	ENST00000361200.2	+	6	1687	c.1521G>A	c.(1519-1521)agG>agA	p.R507R	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Silent_p.R507R|DUSP27_ENST00000271385.5_Silent_p.R507R			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	507					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						CGGCAGACAGGAGCTCAGAAG	0.597													G|||	3	0.000599042	0.0023	0	5008	,	,		17760	0		0	False		,,,				2504	0					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.(1519-1521)agG>agA		dual specificity phosphatase 27 (putative)		G		2,4404	4.2+/-10.8	0,2,2201	58	53	55		1521	-9.4	0.0	1		55	0,8600		0,0,4300	no	coding-synonymous	DUSP27	NM_001080426.1		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		507/1159	167095889	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167095889G>A	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.1521G>A	1.37:g.167095889G>A						DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Silent_p.R507R|DUSP27_ENST00000271385.5_Silent_p.R507R	p.R507R			Q5VZP5	DUS27_HUMAN			6	1687	+			507					A0AUM4|Q9C074	Silent	SNP	ENST00000361200.2	37	c.1521G>A	CCDS30932.1																																																																																				0.597	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		22	51	0	0	0	0.014323	0	22	51					A	167095889	G	A	167095889	2	1	55	1	0	0	0	0	0	0	0	1	4824	1165	41	2		2	DUSP27	1	167095889	Silent	SNP	G	TCGA-DE-A0XZ-01A-11D-A17V-08	7412260	167095889	82154732	4	1280											
TARBP1	6894	broad.mit.edu	37	chr1	234569236	234569236	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctccagatagggttaccccTtttccacccaaccttcaaat	4	15	2	1			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr1:234569236T>C	ENST00000040877.1	-	14	2313	c.2314A>G	c.(2314-2316)Agg>Ggg	p.R772G		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	772					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GGGTTACCCCTTTTCCACCCA	0.398																																						ENST00000040877.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55						c.(2314-2316)Agg>Ggg		TAR (HIV-1) RNA binding protein 1							138	133	135					1																	234569236		2203	4300	6503	SO:0001583	missense	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234569236T>C		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"tRNA methyltransferase 3 homolog (S. cerevisiae)"	605052	"Tar (HIV-1) RNA binding protein 1"			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.2314A>G	1.37:g.234569236T>C	ENSP00000040877:p.Arg772Gly						p.R772G	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		14	2313	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	772					Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	c.2314A>G	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	T	11.47	1.649575	0.29336	.	.	ENSG00000059588	ENST00000040877	T	0.06142	3.34	5.68	-6.86	0.01676	.	0.766887	0.12942	N	0.426530	T	0.04363	0.0120	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36114	-0.9761	10	0.25106	T	0.35	-6.8367	7.5766	0.27939	0.0:0.2216:0.4085:0.3699	.	772	Q13395	TARB1_HUMAN	G	772	ENSP00000040877:R772G	ENSP00000040877:R772G	R	-	1	2	TARBP1	232635859	0.018000	0.18449	0.004000	0.12327	0.956000	0.61745	0.001000	0.13038	-1.185000	0.02716	0.533000	0.62120	AGG		0.398	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		3	63	0	0	0	0.004672	0	3	63					C	234569236	T	C	234569236	3	2	55	1	0	0	0	0	1	0	0	0	15552	1608	56	3	2619	3	TARBP1	1	234569236	Missense_Mutation	SNP	T	TCGA-DE-A0XZ-01A-11D-A17V-08	67473347	234569236	14681385	5	1281											
COL3A1	1281	broad.mit.edu	37	chr2	189871146	189871146	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gcccacctggtcctgtcggtCcagctggaaagagtggtgac	14	12	0	2			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr2:189871146C>G	ENST00000304636.3	+	43	3339	c.3169C>G	c.(3169-3171)Cca>Gca	p.P1057A	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1057	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TCCTGTCGGTCCAGCTGGAAA	0.488																																						ENST00000304636.3																			0				NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(3169-3171)Cca>Gca		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						68	71	70					2																	189871146		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189871146C>G	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"Collagens"	2201	protein-coding gene	gene with protein product		120180	"Ehlers-Danlos syndrome type IV, autosomal dominant"	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.3169C>G	2.37:g.189871146C>G	ENSP00000304408:p.Pro1057Ala					COL3A1_ENST00000317840.5_Intron	p.P1057A	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		43	3339	+			1057			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.3169C>G	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.102041	0.56183	.	.	ENSG00000168542	ENST00000304636	D	0.96745	-4.11	5.35	4.48	0.54585	.	0.281313	0.25634	N	0.029334	D	0.96393	0.8823	L	0.58302	1.8	0.80722	D	1	B	0.29862	0.259	P	0.46275	0.51	D	0.94557	0.7759	10	0.20046	T	0.44	.	15.8201	0.78633	0.0:0.728:0.272:0.0	.	1057	P02461	CO3A1_HUMAN	A	1057	ENSP00000304408:P1057A	ENSP00000304408:P1057A	P	+	1	0	COL3A1	189579391	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.674000	0.46867	1.484000	0.48361	0.655000	0.94253	CCA		0.488	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		4	25	0	0	0	0.014758	0	4	25					G	189871146	C	G	189871146	3	3	55	1	0	0	0	0	1	0	0	0	3688	855	30	4	3339	4	COL3A1	2	189871146	Missense_Mutation	SNP	C	TCGA-DE-A0XZ-01A-11D-A17V-08		189871146	53328227	6	1282											
PLXNB1	5364	broad.mit.edu	37	chr3	48459614	48459614	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acaaaccgagtggatgagggGcgctgggcactgggtggcca	18	9	0	1			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr3:48459614G>C	ENST00000358536.4	-	15	3477	c.3208C>G	c.(3208-3210)Ccc>Gcc	p.P1070A	PLXNB1_ENST00000296440.6_Missense_Mutation_p.P1070A|PLXNB1_ENST00000358459.4_Missense_Mutation_p.P887A|PLXNB1_ENST00000456774.1_Missense_Mutation_p.P887A|PLXNB1_ENST00000465117.1_5'Flank|PLXNB1_ENST00000448774.2_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1070	IPT/TIG 1.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGATGAGGGGCGCTGGGCAC	0.657																																						ENST00000358536.4																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(3208-3210)Ccc>Gcc		plexin B1							50	37	41					3																	48459614		2202	4300	6502	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48459614G>C	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.3208C>G	3.37:g.48459614G>C	ENSP00000351338:p.Pro1070Ala					PLXNB1_ENST00000456774.1_Missense_Mutation_p.P887A|PLXNB1_ENST00000296440.6_Missense_Mutation_p.P1070A|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Missense_Mutation_p.P887A	p.P1070A	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	15	3477	-			1070			IPT/TIG 1.		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.3208C>G	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970768	0.92919	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84	5.59	5.59	0.84812	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);	0.000000	0.85682	D	0.000000	D	0.92629	0.7658	M	0.90309	3.105	0.80722	D	1	P;P	0.50710	0.938;0.498	P;B	0.55749	0.783;0.23	D	0.93798	0.7098	10	0.87932	D	0	.	18.5826	0.91177	0.0:0.0:1.0:0.0	.	1070;887	O43157;O43157-2	PLXB1_HUMAN;.	A	1070;887;1070;887	ENSP00000296440:P1070A;ENSP00000351242:P887A;ENSP00000351338:P1070A;ENSP00000414199:P887A	ENSP00000296440:P1070A	P	-	1	0	PLXNB1	48434618	1.000000	0.71417	0.918000	0.36340	0.980000	0.70556	9.440000	0.97547	2.642000	0.89623	0.561000	0.74099	CCC		0.657	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		3	21	0	0	0	0.004672	0	3	21					C	48459614	G	C	48459614	3	2	55	1	0	0	0	0	1	0	0	0	12123	1203	42	4	3295	4	PLXNB1	3	48459614	Missense_Mutation	SNP	G	TCGA-DE-A0XZ-01A-11D-A17V-08		48459614	149562816	7	1283											
XRN1	54464	broad.mit.edu	37	chr3	142133126	142133126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaaggtgcataatgataagGataatacctataaaacaaaa	7	4	0	1			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr3:142133126G>A	ENST00000264951.4	-	14	1561	c.1444C>T	c.(1444-1446)Cct>Tct	p.P482S	XRN1_ENST00000392981.2_Missense_Mutation_p.P482S	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	482					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TAATGATAAGGATAATACCTA	0.294																																						ENST00000264951.4																			0				NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						c.(1444-1446)Cct>Tct		5'-3' exoribonuclease 1							97	99	98					3																	142133126		2203	4300	6503	SO:0001583	missense	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142133126G>A	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.1444C>T	3.37:g.142133126G>A	ENSP00000264951:p.Pro482Ser					XRN1_ENST00000392981.2_Missense_Mutation_p.P482S	p.P482S	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN			14	1561	-			482					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	c.1444C>T	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469159	0.84533	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.74526	-0.85;-0.85	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.88262	0.6389	M	0.87827	2.91	0.80722	D	1	D;D;D	0.69078	0.989;0.997;0.995	D;D;D	0.73380	0.95;0.98;0.955	D	0.89410	0.3702	10	0.59425	D	0.04	-10.0391	19.2343	0.93851	0.0:0.0:1.0:0.0	.	343;482;482	B3KW17;Q8IZH2-2;Q8IZH2	.;.;XRN1_HUMAN	S	482	ENSP00000264951:P482S;ENSP00000376707:P482S	ENSP00000264951:P482S	P	-	1	0	XRN1	143615816	1.000000	0.71417	0.936000	0.37596	0.964000	0.63967	9.041000	0.93788	2.636000	0.89361	0.650000	0.86243	CCT		0.294	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		27	51	0	0	0	0.004656	0	27	51					A	142133126	G	A	142133126	3	1	55	1	0	0	0	0	1	0	0	0	17456	1174	41	2	3792	2	XRN1	3	142133126	Missense_Mutation	SNP	G	TCGA-DE-A0XZ-01A-11D-A17V-08	93673512	142133126	55889304	8	1284											
KDR	3791	broad.mit.edu	37	chr4	55964962	55964962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatttccaagttcgtcttttCctgggcacctggaaagacac	9	11	1	1			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr4:55964962C>T	ENST00000263923.4	-	16	2570	c.2275G>A	c.(2275-2277)Gaa>Aaa	p.E759K		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	759					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTCGTCTTTTCCTGGGCACCT	0.408			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"NSCLC, angiosarcoma"		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(2275-2277)Gaa>Aaa		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						91	91	91					4																	55964962		2203	4300	6503	SO:0001583	missense	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55964962C>T	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2275G>A	4.37:g.55964962C>T	ENSP00000263923:p.Glu759Lys	TSP Lung(20;0.16)					p.E759K	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		16	2570	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		759					A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.2275G>A	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052708	0.75960	.	.	ENSG00000128052	ENST00000263923	T	0.76448	-1.02	5.97	5.97	0.96955	.	0.108004	0.64402	D	0.000011	T	0.78717	0.4327	M	0.66939	2.045	0.80722	D	1	P	0.36753	0.568	B	0.36666	0.23	T	0.76793	-0.2828	10	0.38643	T	0.18	.	20.4062	0.99009	0.0:1.0:0.0:0.0	.	759	P35968	VGFR2_HUMAN	K	759	ENSP00000263923:E759K	ENSP00000263923:E759K	E	-	1	0	KDR	55659719	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	7.776000	0.85560	2.831000	0.97527	0.655000	0.94253	GAA		0.408	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			4	55	0	0	0	0.009096	0	4	55					T	55964962	C	T	55964962	3	4	55	1	0	0	0	0	1	0	0	0	8139	864	30	2	1855	2	KDR	4	55964962	Missense_Mutation	SNP	C	TCGA-DE-A0XZ-01A-11D-A17V-08		55964962	135189314	9	1285											
MTTP	4547	broad.mit.edu	37	chr4	100504662	100504662	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agacctacgctccttcatctAatccatggaaaggtaaaggg	9	10	2	1			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr4:100504662A>C	ENST00000265517.5	+	3	584	c.381A>C	c.(379-381)ctA>ctC	p.L127L	MTTP_ENST00000422897.2_Silent_p.L127L|MTTP_ENST00000457717.1_Silent_p.L127L|MTTP_ENST00000511045.1_Silent_p.L154L			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	127	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	TCCTTCATCTAATCCATGGAA	0.388																																						ENST00000457717.1																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57						c.(379-381)ctA>ctC		microsomal triglyceride transfer protein	Hesperetin(DB01094)						77	84	81					4																	100504662		2201	4300	6501	SO:0001819	synonymous_variant	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100504662A>C		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"microsomal triglyceride transfer protein (large polypeptide, 88kD)", "microsomal triglyceride transfer protein (large polypeptide, 88kDa)"	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.381A>C	4.37:g.100504662A>C						MTTP_ENST00000511045.1_Silent_p.L154L|MTTP_ENST00000265517.5_Silent_p.L127L|MTTP_ENST00000422897.2_Silent_p.L127L	p.L127L	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	4	637	+			127			Vitellogenin.		A8K428|Q08AM4|Q6P5T3	Silent	SNP	ENST00000265517.5	37	c.381A>C	CCDS3651.1																																																																																				0.388	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			4	78	0	0	0	0.009096	0	4	78					C	100504662	A	C	100504662	2	2	55	1	0	0	0	0	0	0	0	1	9964	349	13	5		5	MTTP	4	100504662	Silent	SNP	A	TCGA-DE-A0XZ-01A-11D-A17V-08	44539700	100504662	90649614	10	1286											
LARP1	23367	broad.mit.edu	37	chr5	154190917	154190918	+	Splice_Site	INS	-	-	T													gtgaaggactatgaagctggINStaagagccagagttggatct							TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr5:154190917_154190918insT	ENST00000336314.4	+	17	2746		c.e17+1			NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1						cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TATGAAGCTGGTAAGAGCCAGA	0.49																																						ENST00000336314.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.e17+1		La ribonucleoprotein domain family, member 1																																				SO:0001630	splice_region_variant	23367						protein binding|RNA binding	g.chr5:154190917_154190918insT	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"La ribonucleoprotein domain containing"	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.2722+1->T	5.37:g.154190918_154190918dupT								NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		17	2746	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)						O94836|Q8N4M2|Q8NB73|Q9UFD7	Splice_Site	INS	ENST00000336314.4	37		CCDS4328.1																																																																																				0.49	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551	Intron	24	44						24	44	---	---	---	---	T	154190918	-	T	154190917	8	5	55	1	0	1	1	0	0	0	1	0	8628	1275	44	0	2789	0	LARP1	5	154190917	Splice_Site	INS	-	TCGA-DE-A0XZ-01A-11D-A17V-08		154190917	26724343	11	1287											
MDN1	23195	broad.mit.edu	37	chr6	90471411	90471411	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttcagtcattttcatctgttGttgggcatggttgagtctaa	10	6	5	1			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr6:90471411G>C	ENST00000369393.3	-	17	2528	c.2413C>G	c.(2413-2415)Caa>Gaa	p.Q805E	MDN1_ENST00000428876.1_Missense_Mutation_p.Q805E			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	805					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTCATCTGTTGTTGGGCATGG	0.328																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(2413-2415)Caa>Gaa		MDN1, midasin homolog (yeast)							158	150	153					6																	90471411		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90471411G>C	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.2413C>G	6.37:g.90471411G>C	ENSP00000358400:p.Gln805Glu					MDN1_ENST00000428876.1_Missense_Mutation_p.Q805E	p.Q805E			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	17	2528	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	805					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.2413C>G	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.874574	0.33069	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.17213	4.04;4.04;2.29	5.41	5.41	0.78517	ATPase, AAA+ type, core (1);	0.061993	0.64402	D	0.000003	T	0.04137	0.0115	N	0.08118	0	0.39889	D	0.973746	B;B	0.21147	0.052;0.028	B;B	0.30401	0.115;0.115	T	0.16158	-1.0412	10	0.02654	T	1	.	19.5497	0.95312	0.0:0.0:1.0:0.0	.	732;805	Q5T795;Q9NU22	.;MDN1_HUMAN	E	805;805;732	ENSP00000358400:Q805E;ENSP00000413970:Q805E;ENSP00000409664:Q732E	ENSP00000358400:Q805E	Q	-	1	0	MDN1	90528132	1.000000	0.71417	0.995000	0.50966	0.906000	0.53458	5.900000	0.69853	2.710000	0.92621	0.491000	0.48974	CAA		0.328	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			3	107	0	0	0	0.009096	0	3	107					C	90471411	G	C	90471411	3	2	55	1	0	0	0	0	1	0	0	0	9415	1386	48	4	14721	4	MDN1	6	90471411	Missense_Mutation	SNP	G	TCGA-DE-A0XZ-01A-11D-A17V-08		90471411	80643656	12	1288											
RSBN1L	222194	broad.mit.edu	37	chr7	77408244	77408244	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaatcaaggaagaacctgTgaatgttaatattcctgaaa	8	5	1	4			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr7:77408244T>C	ENST00000334955.8	+	8	2327	c.2300T>C	c.(2299-2301)gTg>gCg	p.V767A	RSBN1L_ENST00000445288.1_Missense_Mutation_p.V497A	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	767						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAAGAACCTGTGAATGTTAAT	0.308																																						ENST00000334955.7																			0				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2299-2301)gTg>gCg		round spermatid basic protein 1-like							67	63	64					7																	77408244		1837	4086	5923	SO:0001583	missense	222194					nucleus		g.chr7:77408244T>C	AK124517	CCDS43607.1	7q21.11	2004-08-11			ENSG00000187257	ENSG00000187257			24765	protein-coding gene	gene with protein product						12477932	Standard	NM_198467		Approved	FLJ42526, FLJ45813, MGC71764	uc010ldt.1	Q6PCB5	OTTHUMG00000155517	ENST00000334955.8:c.2300T>C	7.37:g.77408244T>C	ENSP00000334040:p.Val767Ala					RSBN1L_ENST00000445288.1_Missense_Mutation_p.V497A	p.V767A	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN			8	2327	+			767					C9K0P1|Q6ZS58|Q6ZVI9|Q86X48	Missense_Mutation	SNP	ENST00000334955.8	37	c.2300T>C	CCDS43607.1	.	.	.	.	.	.	.	.	.	.	T	5.111	0.206157	0.09704	.	.	ENSG00000187257	ENST00000334955;ENST00000445288	.	.	.	5.84	3.38	0.38709	.	0.663319	0.15121	N	0.279415	T	0.26376	0.0644	L	0.36672	1.1	0.20764	N	0.999854	B	0.27068	0.167	B	0.24394	0.053	T	0.28776	-1.0033	9	0.05351	T	0.99	-0.1811	8.2887	0.31943	0.0:0.0667:0.3857:0.5476	.	767	Q6PCB5	RSBNL_HUMAN	A	767;497	.	ENSP00000334040:V767A	V	+	2	0	RSBN1L	77246180	0.924000	0.31332	0.877000	0.34402	0.993000	0.82548	1.316000	0.33620	0.424000	0.26061	0.482000	0.46254	GTG		0.308	RSBN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340455.3	NM_198467		4	34	0	0	0	0.009096	0	4	34					C	77408244	T	C	77408244	3	2	55	1	0	0	0	0	1	0	0	0	13697	1696	59	3	2330	3	RSBN1L	7	77408244	Missense_Mutation	SNP	T	TCGA-DE-A0XZ-01A-11D-A17V-08		77408244	81730419	13	1289											
CTTNBP2	83992	broad.mit.edu	37	chr7	117432306	117432306	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actttttcatgtggtcagcaTtttctgtcactaggtctgtc	8	9	5	0			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr7:117432306T>C	ENST00000160373.3	-	4	1035	c.944A>G	c.(943-945)aAt>aGt	p.N315S	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	315					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GTGGTCAGCATTTTCTGTCAC	0.473																																						ENST00000160373.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(943-945)aAt>aGt		cortactin binding protein 2							181	175	177					7																	117432306		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117432306T>C		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.944A>G	7.37:g.117432306T>C	ENSP00000160373:p.Asn315Ser						p.N315S	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	4	1035	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		315					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.944A>G	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.644559	0.00111	.	.	ENSG00000077063	ENST00000160373	T	0.63913	-0.07	5.67	4.78	0.61160	.	0.444626	0.30920	N	0.008603	T	0.17323	0.0416	N	0.00092	-2.175	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35748	-0.9776	10	0.02654	T	1	-5.665	8.2497	0.31710	0.0:0.7352:0.1292:0.1356	.	315	Q8WZ74	CTTB2_HUMAN	S	315	ENSP00000160373:N315S	ENSP00000160373:N315S	N	-	2	0	CTTNBP2	117219542	0.933000	0.31639	0.021000	0.16686	0.001000	0.01503	1.832000	0.39151	0.865000	0.35603	-0.128000	0.14901	AAT		0.473	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		5	243	0	0	0	0.001984	0	5	243					C	117432306	T	C	117432306	3	2	55	1	0	0	0	0	1	0	0	0	4045	1493	52	3	4127	3	CTTNBP2	7	117432306	Missense_Mutation	SNP	T	TCGA-DE-A0XZ-01A-11D-A17V-08	40024062	117432306	41706357	14	1290											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		22	36	0	0	0	0.010504	0	22	36					T	140453136	A	T	140453136	3	4	55	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DE-A0XZ-01A-11D-A17V-08	23020830	140453136	18685527	15	1291											
PDCD1LG2	80380	broad.mit.edu	37	chr9	5534909	5534909	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccacaccgtgaaagagccActttgctggaggagcagctg	12	13	0	2			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr9:5534909A>G	ENST00000397747.3	+	3	468	c.220A>G	c.(220-222)Act>Gct	p.T74A	PDCD1LG2_ENST00000397745.2_Missense_Mutation_p.T74A	NM_025239.3	NP_079515.2	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2	74	Ig-like V-type.				immune response (GO:0006955)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(2)|lung(4)|prostate(2)	8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		TGAAAGAGCCACTTTGCTGGA	0.493																																						ENST00000397747.3																			0				large_intestine(2)|lung(4)|prostate(2)	8						c.(220-222)Act>Gct		programmed cell death 1 ligand 2							99	87	91					9																	5534909		2203	4300	6503	SO:0001583	missense	80380				immune response|T cell costimulation	endomembrane system|extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr9:5534909A>G	AF344424	CCDS6465.1	9p24.2	2014-01-30			ENSG00000197646	ENSG00000197646		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	18731	protein-coding gene	gene with protein product	"B7 dendritic cell molecule"	605723				11224527	Standard	NM_025239		Approved	PD-L2, Btdc, PDL2, bA574F11.2, CD273, B7-DC	uc003zjg.4	Q9BQ51	OTTHUMG00000019504	ENST00000397747.3:c.220A>G	9.37:g.5534909A>G	ENSP00000380855:p.Thr74Ala					PDCD1LG2_ENST00000397745.2_Missense_Mutation_p.T74A	p.T74A	NM_025239.3	NP_079515.2	Q9BQ51	PD1L2_HUMAN		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)	3	468	+	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)	74			Ig-like V-type.		Q14CN8|Q5T7Z6|Q6JXL8|Q6JXL9	Missense_Mutation	SNP	ENST00000397747.3	37	c.220A>G	CCDS6465.1	.	.	.	.	.	.	.	.	.	.	A	12.43	1.936020	0.34189	.	.	ENSG00000197646	ENST00000397745;ENST00000397747	T;T	0.02552	4.25;4.25	5.73	3.4	0.38934	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.420318	0.24182	N	0.040800	T	0.04182	0.0116	M	0.67569	2.06	0.21967	N	0.999441	B;B;P;B;B	0.37141	0.424;0.424;0.584;0.003;0.424	B;B;B;B;B	0.37550	0.152;0.152;0.253;0.008;0.152	T	0.35943	-0.9768	10	0.23891	T	0.37	-6.2156	7.3094	0.26465	0.8268:0.0:0.1732:0.0	.	63;74;74;74;74	Q2LC89;A4GW21;Q9BQ51-3;Q9BQ51-2;Q9BQ51	.;.;.;.;PD1L2_HUMAN	A	74	ENSP00000380853:T74A;ENSP00000380855:T74A	ENSP00000380853:T74A	T	+	1	0	PDCD1LG2	5524909	0.000000	0.05858	0.781000	0.31783	0.952000	0.60782	0.320000	0.19540	0.455000	0.26910	-0.441000	0.05720	ACT		0.493	PDCD1LG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051634.1	NM_025239		23	43	0	0	0	0.01892	0	23	43					G	5534909	A	G	5534909	3	3	55	1	0	0	0	0	1	0	0	0	11618	159	6	3	226	3	PDCD1LG2	9	5534909	Missense_Mutation	SNP	A	TCGA-DE-A0XZ-01A-11D-A17V-08		5534909	135678522	16	1292											
C12orf34	84915	broad.mit.edu	37	chr12	110206377	110206377	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagtgccaggccccgggcGccgcaccccctgcctgccag	13	20	0	0	rs200837548		TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr12:110206377G>A	ENST00000538780.1	+	3	1359	c.643G>A	c.(643-645)Gcc>Acc	p.A215T	FAM222A_ENST00000358906.3_Missense_Mutation_p.A215T|FAM222A-AS1_ENST00000541723.1_RNA|FAM222A-AS1_ENST00000541460.1_RNA	NM_032829.2	NP_116218.2	Q5U5X8	F222A_HUMAN	family with sequence similarity 222, member A	215	Pro-rich.																GGCCCCGGGCGCCGCACCCCC	0.711																																						ENST00000538780.1																			0											c.(643-645)Gcc>Acc		family with sequence similarity 222, member A							17	19	19					12																	110206377		2142	4198	6340	SO:0001583	missense	84915							g.chr12:110206377G>A	AK027627	CCDS9133.1	12q24.11	2012-04-27	2012-04-27	2012-04-27	ENSG00000139438	ENSG00000139438			25915	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 34"	C12orf34		12477932	Standard	NM_032829		Approved	FLJ14721	uc001tpd.2	Q5U5X8	OTTHUMG00000169260	ENST00000538780.1:c.643G>A	12.37:g.110206377G>A	ENSP00000443292:p.Ala215Thr					FAM222A_ENST00000358906.3_Missense_Mutation_p.A215T|FAM222A-AS1_ENST00000541723.1_RNA|FAM222A-AS1_ENST00000541460.1_RNA	p.A215T	NM_032829.2	NP_116218.2	Q5U5X8	CL034_HUMAN			3	1359	+			215			Pro-rich.		Q8NCD5|Q96SP6	Missense_Mutation	SNP	ENST00000538780.1	37	c.643G>A	CCDS9133.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.348054	0.24426	.	.	ENSG00000139438	ENST00000538780;ENST00000358906	T;T	0.29655	1.56;1.56	3.82	2.83	0.33086	.	0.218641	0.23279	N	0.049922	T	0.18215	0.0437	N	0.22421	0.69	0.46203	D	0.998925	B	0.26400	0.148	B	0.22386	0.039	T	0.07635	-1.0762	10	0.51188	T	0.08	-6.8323	7.7831	0.29077	0.0:0.1394:0.629:0.2315	.	215	Q5U5X8	CL034_HUMAN	T	215	ENSP00000443292:A215T;ENSP00000351783:A215T	ENSP00000351783:A215T	A	+	1	0	C12orf34	108690760	0.070000	0.21116	0.441000	0.26858	0.987000	0.75469	0.897000	0.28390	1.989000	0.58080	0.491000	0.48974	GCC		0.711	FAM222A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403175.1	NM_032829		6	71	0	0	0	0.001984	0	6	71					A	110206377	G	A	110206377	3	1	55	1	0	0	0	0	1	0	0	0	1681	1087	38	1	649	1	C12orf34	12	110206377	Missense_Mutation	SNP	G	TCGA-DE-A0XZ-01A-11D-A17V-08		110206377	23645518	17	1293											
TPTE2	93492	broad.mit.edu	37	chr13	20056679	20056679	+	Missense_Mutation	SNP	T	T	G													cttcaaacttggaaagtcgtTctaacatactttagccacca					rs200244531		TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr13:20056679T>G	ENST00000400230.2	-	4	172	c.128A>C	c.(127-129)gAa>gCa	p.E43A	TPTE2_ENST00000400103.2_Missense_Mutation_p.E43A|TPTE2_ENST00000457266.2_Missense_Mutation_p.E43A|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382977.4_Missense_Mutation_p.E43A|TPTE2_ENST00000382978.1_Missense_Mutation_p.E43A|TPTE2_ENST00000382975.4_Missense_Mutation_p.E43A			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	43					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E43A(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GGAAAGTCGTTCTAACATACT	0.313																																						ENST00000400230.2																			1	Substitution - Missense(1)	p.E43A(1)	kidney(1)	NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(127-129)gAa>gCa		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							52	51	51					13																	20056679		2201	4299	6500	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20056679T>G	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.128A>C	13.37:g.20056679T>G	ENSP00000383089:p.Glu43Ala					TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000400103.2_Missense_Mutation_p.E43A|TPTE2_ENST00000382978.1_Missense_Mutation_p.E43A|TPTE2_ENST00000457266.2_Missense_Mutation_p.E43A|TPTE2_ENST00000382977.4_Missense_Mutation_p.E43A|TPTE2_ENST00000382975.4_Missense_Mutation_p.E43A	p.E43A			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	4	172	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	43					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.128A>C	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	T	2.387	-0.340821	0.05243	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548	D;D;D;D;D;D	0.94931	-3.56;-3.53;-3.47;-3.47;-3.56;-3.53	2.06	0.858	0.19030	.	0.878504	0.09602	U	0.780065	D	0.86159	0.5866	N	0.21448	0.665	0.09310	N	1	B;B	0.28850	0.225;0.0	B;B	0.19946	0.027;0.0	T	0.74598	-0.3612	9	.	.	.	-0.5937	3.8365	0.08896	0.0:0.192:0.0:0.808	.	43;43	A8MX64;Q6XPS3	.;TPTE2_HUMAN	A	43	ENSP00000372438:E43A;ENSP00000382974:E43A;ENSP00000383089:E43A;ENSP00000372437:E43A;ENSP00000372435:E43A;ENSP00000442218:E43A	.	E	-	2	0	TPTE2	18954679	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.422000	0.21296	0.241000	0.21283	0.383000	0.25322	GAA		0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		4	63	0	0	0	0.014758	0	4	63					G	20056679	T	G	20056679	3	3	55	1	0	0	0	0	1	0	0	0	16428	1783	62	5	1508	5	TPTE2	13	20056679	Missense_Mutation	SNP	T	TCGA-DE-A0XZ-01A-11D-A17V-08		20056679	95113199	18	1294	6	2									
TPTE2	93492	broad.mit.edu	37	chr13	20056686	20056686	+	Splice_Site	SNP	T	T	C													cttggaaagtcgttctaacaTactttagccaccaaaaaaaa					rs201542496		TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr13:20056686T>C	ENST00000400230.2	-	4	165	c.121A>G	c.(121-123)Atg>Gtg	p.M41V	TPTE2_ENST00000400103.2_Splice_Site_p.M41V|TPTE2_ENST00000457266.2_Splice_Site_p.M41V|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382977.4_Splice_Site_p.M41V|TPTE2_ENST00000382978.1_Splice_Site_p.M41V|TPTE2_ENST00000382975.4_Splice_Site_p.M41V			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	41					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGTTCTAACATACTTTAGCCA	0.313																																						ENST00000400230.2																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.e4-1		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							47	46	47					13																	20056686		2202	4298	6500	SO:0001630	splice_region_variant	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20056686T>C	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.120-1A>G	13.37:g.20056686T>C						TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000400103.2_Splice_Site_p.M41_splice|TPTE2_ENST00000382978.1_Splice_Site_p.M41_splice|TPTE2_ENST00000457266.2_Splice_Site_p.M41_splice|TPTE2_ENST00000382977.4_Splice_Site_p.M41_splice|TPTE2_ENST00000382975.4_Splice_Site_p.M41_splice	p.M41_splice			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	4	165	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	41					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Splice_Site	SNP	ENST00000400230.2	37	c.119_splice	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.805163	0.00075	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548	D;D;D;D;D;D	0.94376	-3.41;-3.33;-3.28;-3.28;-3.41;-3.33	2.06	0.838	0.18902	.	0.589765	0.15086	U	0.281346	D	0.83399	0.5246	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.68424	-0.5412	9	.	.	.	0.2742	3.9369	0.09310	0.0:0.1886:0.0:0.8114	.	41;41	A8MX64;Q6XPS3	.;TPTE2_HUMAN	V	41	ENSP00000372438:M41V;ENSP00000382974:M41V;ENSP00000383089:M41V;ENSP00000372437:M41V;ENSP00000372435:M41V;ENSP00000442218:M41V	.	M	-	1	0	TPTE2	18954686	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.105000	0.10907	0.235000	0.21160	0.383000	0.25322	ATG		0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254	Missense_Mutation	4	60	0	0	0	0.001168	0	4	60					C	20056686	T	C	20056686	5	2	55	1	0	0	0	0	0	0	1	0	16428	1420	49	3	1515	3	TPTE2	13	20056686	Splice_Site	SNP	T	TCGA-DE-A0XZ-01A-11D-A17V-08	7	20056686	95113192	19	1295	6	2									
RXFP2	122042	broad.mit.edu	37	chr13	32371461	32371461	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggaagagaggtggctgttgCaaatcgtttcttttttatag	12	4	1	1			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr13:32371461C>A	ENST00000298386.2	+	17	1981	c.1910C>A	c.(1909-1911)gCa>gAa	p.A637E	RXFP2_ENST00000380314.1_Missense_Mutation_p.A613E	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	637					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		GTGGCTGTTGCAAATCGTTTC	0.398																																						ENST00000298386.2																			0				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33						c.(1909-1911)gCa>gAa		relaxin/insulin-like family peptide receptor 2							211	208	209					13																	32371461		2203	4300	6503	SO:0001583	missense	122042					integral to membrane|plasma membrane		g.chr13:32371461C>A	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"GPCR / Class A : Relaxin family peptide receptors"	17318	protein-coding gene	gene with protein product		606655	"leucine-rich repeat-containing G protein-coupled receptor 8"	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.1910C>A	13.37:g.32371461C>A	ENSP00000298386:p.Ala637Glu					RXFP2_ENST00000380314.1_Missense_Mutation_p.A613E	p.A637E	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	17	1981	+		Lung SC(185;0.0262)	637					B1ALE9|Q3KU23	Missense_Mutation	SNP	ENST00000298386.2	37	c.1910C>A	CCDS9342.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399773	0.83120	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.74947	-0.89;-0.89	5.66	5.66	0.87406	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.89350	0.6690	M	0.92122	3.275	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91443	0.5175	10	0.87932	D	0	.	16.0364	0.80631	0.1348:0.8652:0.0:0.0	.	613;637	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	E	613;637	ENSP00000369670:A613E;ENSP00000298386:A637E	ENSP00000298386:A637E	A	+	2	0	RXFP2	31269461	0.998000	0.40836	0.901000	0.35422	0.971000	0.66376	3.688000	0.54699	2.680000	0.91292	0.655000	0.94253	GCA		0.398	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806		15	91	1	0	1.49906e-05	0.020292	7.46647e-05	15	91					A	32371461	C	A	32371461	3	1	55	1	0	0	0	0	1	0	0	0	13760	710	25	4	1976	4	RXFP2	13	32371461	Missense_Mutation	SNP	C	TCGA-DE-A0XZ-01A-11D-A17V-08	12314775	32371461	82798417	20	1296											
DUOX2	50506	broad.mit.edu	37	chr15	45392355	45392355	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtactgctgcagctttTgggctaggaagcctcgctgc	13	11	0	0			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr15:45392355T>G	ENST00000603300.1	-	24	3279	c.3077A>C	c.(3076-3078)cAa>cCa	p.Q1026P	DUOX2_ENST00000389039.6_Missense_Mutation_p.Q1026P	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1026	Interaction with TXNDC11. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTGCAGCTTTTGGGCTAGGAA	0.587																																						ENST00000389039.6																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(3076-3078)cAa>cCa		dual oxidase 2							107	90	96					15																	45392355		2198	4298	6496	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45392355T>G	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"EF-hand domain containing"	13273	protein-coding gene	gene with protein product	"dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2"	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.3077A>C	15.37:g.45392355T>G	ENSP00000475084:p.Gln1026Pro					DUOX2_ENST00000603300.1_Missense_Mutation_p.Q1026P	p.Q1026P			Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	24	3462	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1026			Interaction with TXNDC11 (By similarity).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.3077A>C	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.247139	0.80024	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.45	3.15	0.36227	.	0.054732	0.85682	D	0.000000	T	0.61999	0.2392	M	0.76328	2.33	0.80722	D	1	D	0.54397	0.966	P	0.49421	0.61	T	0.61739	-0.7001	9	0.54805	T	0.06	-17.6706	9.0162	0.36170	0.0:0.1504:0.0:0.8496	.	1026	Q9NRD8	DUOX2_HUMAN	P	1026	.	ENSP00000373691:Q1026P	Q	-	2	0	DUOX2	43179647	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.148000	0.58085	0.385000	0.24970	-0.376000	0.06991	CAA		0.587	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		3	78	0	0	0	0.004672	0	3	78					G	45392355	T	G	45392355	3	3	55	1	0	0	0	0	1	0	0	0	4801	1812	63	5	1613	5	DUOX2	15	45392355	Missense_Mutation	SNP	T	TCGA-DE-A0XZ-01A-11D-A17V-08		45392355	57139037	21	1297											
ADAT1	23536	broad.mit.edu	37	chr16	75634205	75634205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcttcctggtaagaggacGcagcctccttgtactcctgg	12	12	0	1			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr16:75634205G>A	ENST00000307921.3	-	11	1563	c.1418C>T	c.(1417-1419)gCg>gTg	p.A473V	ADAT1_ENST00000568478.1_5'UTR|RP11-77K12.8_ENST00000564489.1_RNA	NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	473	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|RNA binding (GO:0003723)|tRNA-specific adenosine deaminase activity (GO:0008251)	p.A473V(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						GTAAGAGGACGCAGCCTCCTT	0.532																																						ENST00000307921.3																			1	Substitution - Missense(1)	p.A473V(1)	large_intestine(1)	breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						c.(1417-1419)gCg>gTg		adenosine deaminase, tRNA-specific 1							111	104	106					16																	75634205		2198	4300	6498	SO:0001583	missense	23536				tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity	g.chr16:75634205G>A	AF125188	CCDS10922.1	16q23	2008-02-05			ENSG00000065457	ENSG00000065457			228	protein-coding gene	gene with protein product		604230				10430867	Standard	NM_012091		Approved		uc002feo.2	Q9BUB4	OTTHUMG00000137611	ENST00000307921.3:c.1418C>T	16.37:g.75634205G>A	ENSP00000310015:p.Ala473Val					RP11-77K12.8_ENST00000564489.1_RNA|ADAT1_ENST00000568478.1_5'UTR	p.A473V	NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN			11	1563	-			473			A to I editase.		Q9NVB7|Q9UNG3	Missense_Mutation	SNP	ENST00000307921.3	37	c.1418C>T	CCDS10922.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193833	0.78902	.	.	ENSG00000065457	ENST00000307921;ENST00000542252	D	0.94862	-3.54	5.69	5.69	0.88448	Adenosine deaminase/editase (3);	0.099857	0.64402	D	0.000002	D	0.96399	0.8825	M	0.70842	2.15	0.49130	D	0.999757	D	0.76494	0.999	D	0.65684	0.937	D	0.95341	0.8438	10	0.35671	T	0.21	-4.4372	15.32	0.74115	0.0:0.0:1.0:0.0	.	473	Q9BUB4	ADAT1_HUMAN	V	473;444	ENSP00000310015:A473V	ENSP00000310015:A473V	A	-	2	0	ADAT1	74191706	0.996000	0.38824	0.202000	0.23494	0.812000	0.45895	5.924000	0.70054	2.677000	0.91161	0.655000	0.94253	GCG		0.532	ADAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269027.1	NM_012091		31	72	0	0	0	0.009535	0	31	72					A	75634205	G	A	75634205	3	1	55	1	0	0	0	0	1	0	0	0	284	1087	38	1	94	1	ADAT1	16	75634205	Missense_Mutation	SNP	G	TCGA-DE-A0XZ-01A-11D-A17V-08		75634205	14720548	22	1298											
HDAC5	10014	broad.mit.edu	37	chr17	42169608	42169608	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ggtgctgtgggagctgttggGagagctggggccggagccgg	23	7	0	1			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr17:42169608G>C	ENST00000393622.2	-	9	1295	c.964C>G	c.(964-966)Ccc>Gcc	p.P322A	HDAC5_ENST00000586802.1_Missense_Mutation_p.P322A|HDAC5_ENST00000225983.6_Missense_Mutation_p.P323A|HDAC5_ENST00000336057.5_Missense_Mutation_p.P322A	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	322					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|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)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		GAGCTGTTGGGAGAGCTGGGG	0.642																																						ENST00000225983.6																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21						c.(967-969)Ccc>Gcc		histone deacetylase 5							103	101	101					17																	42169608		2203	4300	6503	SO:0001583	missense	10014				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr17:42169608G>C	AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.964C>G	17.37:g.42169608G>C	ENSP00000377244:p.Pro322Ala					HDAC5_ENST00000586802.1_Missense_Mutation_p.P322A|HDAC5_ENST00000393622.2_Missense_Mutation_p.P322A|HDAC5_ENST00000336057.5_Missense_Mutation_p.P322A	p.P323A			Q9UQL6	HDAC5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.118)	9	1290	-		Breast(137;0.00637)|Prostate(33;0.0313)	322					C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	ENST00000393622.2	37	c.967C>G	CCDS45696.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345146	0.82022	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	T;T;T	0.64618	0.21;0.21;-0.11	4.42	4.42	0.53409	.	0.078059	0.51477	D	0.000087	T	0.79470	0.4451	M	0.81682	2.555	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.80764	0.994;0.986;0.994;0.986	T	0.82114	-0.0617	10	0.54805	T	0.06	-16.8853	15.946	0.79792	0.0:0.0:1.0:0.0	.	322;322;323;322	Q9UQL6-2;B4DGT4;Q9UQL6-3;Q9UQL6	.;.;.;HDAC5_HUMAN	A	323;322;322	ENSP00000225983:P323A;ENSP00000377244:P322A;ENSP00000337290:P322A	ENSP00000225983:P323A	P	-	1	0	HDAC5	39525134	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.343000	0.97047	2.283000	0.76528	0.462000	0.41574	CCC		0.642	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053		3	97	0	0	0	0.009096	0	3	97					C	42169608	G	C	42169608	3	2	55	1	0	0	0	0	1	0	0	0	7010	1174	41	4	2480	4	HDAC5	17	42169608	Missense_Mutation	SNP	G	TCGA-DE-A0XZ-01A-11D-A17V-08		42169608	39025602	23	1299											
EVPL	2125	broad.mit.edu	37	chr17	74003919	74003919	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgatagagccgatggagagTgaggagcttggcttggtctc	16	6	1	4			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr17:74003919T>C	ENST00000301607.3	-	22	5620	c.5367A>G	c.(5365-5367)tcA>tcG	p.S1789S	TEN1-CDK3_ENST00000567351.1_RNA|EVPL_ENST00000586740.1_Silent_p.S1811S	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1789	Globular 2.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CGATGGAGAGTGAGGAGCTTG	0.607																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(5365-5367)tcA>tcG		envoplakin							88	90	89					17																	74003919		2203	4300	6503	SO:0001819	synonymous_variant	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74003919T>C	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.5367A>G	17.37:g.74003919T>C						EVPL_ENST00000586740.1_Silent_p.S1811S	p.S1789S	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	5620	-			1789			Globular 2.		A0AUV5	Silent	SNP	ENST00000301607.3	37	c.5367A>G	CCDS11737.1																																																																																				0.607	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		4	74	0	0	0	0.009096	0	4	74					C	74003919	T	C	74003919	2	2	55	1	0	0	0	0	0	0	0	1	5292	1683	59	3		3	EVPL	17	74003919	Silent	SNP	T	TCGA-DE-A0XZ-01A-11D-A17V-08	31834311	74003919	7191291	24	1300											
SLC25A10	1468	broad.mit.edu	37	chr17	79683052	79683052	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttcaggatgcagaacgacGtgaagctgccccagggtcag	14	10	2	2			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr17:79683052G>A	ENST00000350690.5	+	5	477	c.391G>A	c.(391-393)Gtg>Atg	p.V131M	SLC25A10_ENST00000545862.1_Missense_Mutation_p.V88M|SLC25A10_ENST00000331531.5_Missense_Mutation_p.V131M|SLC25A10_ENST00000571730.1_Missense_Mutation_p.V286M|SLC25A10_ENST00000541223.1_Missense_Mutation_p.V286M	NM_001270953.1|NM_012140.4	NP_001257882.1|NP_036272.2	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	131					carbohydrate metabolic process (GO:0005975)|cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid transport (GO:0006835)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|ion transport (GO:0006811)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	dicarboxylic acid transmembrane transporter activity (GO:0005310)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	GCAGAACGACGTGAAGCTGCC	0.701																																						ENST00000331531.5																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14						c.(391-393)Gtg>Atg		solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	Succinic acid(DB00139)						32	30	31					17																	79683052		2194	4294	6488	SO:0001583	missense	1468				gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding	g.chr17:79683052G>A		CCDS11786.1, CCDS59301.1, CCDS74176.1	17q25.3	2013-07-15			ENSG00000183048	ENSG00000183048		"Solute carriers"	10980	protein-coding gene	gene with protein product		606794		DIC		9733776, 10072589	Standard	NM_001270953		Approved		uc031rew.1	Q9UBX3	OTTHUMG00000178173	ENST00000350690.5:c.391G>A	17.37:g.79683052G>A	ENSP00000345580:p.Val131Met					SLC25A10_ENST00000350690.5_Missense_Mutation_p.V131M|SLC25A10_ENST00000571730.1_Missense_Mutation_p.V286M|SLC25A10_ENST00000545862.1_Missense_Mutation_p.V88M|SLC25A10_ENST00000541223.1_Missense_Mutation_p.V286M	p.V131M	NM_001270888.1	NP_001257817.1	Q9UBX3	DIC_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		5	511	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		131					Q542Z3|Q96BA1|Q96IP1	Missense_Mutation	SNP	ENST00000350690.5	37	c.391G>A	CCDS11786.1	.	.	.	.	.	.	.	.	.	.	G	5.629	0.300816	0.10678	.	.	ENSG00000183048	ENST00000541223;ENST00000331531;ENST00000350690;ENST00000545862	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	3.9	-3.85	0.04243	Mitochondrial carrier domain (2);	0.353469	0.31301	N	0.007888	T	0.60222	0.2252	N	0.21324	0.655	0.45464	D	0.998437	B;B;B	0.17038	0.012;0.02;0.007	B;B;B	0.17098	0.017;0.014;0.014	T	0.24261	-1.0165	10	0.44086	T	0.13	-9.8138	12.4186	0.55508	0.3972:0.0:0.6028:0.0	.	286;131;131	B4DLN1;Q9UBX3-2;Q9UBX3	.;.;DIC_HUMAN	M	286;131;131;88	ENSP00000439565:V286M;ENSP00000328403:V131M;ENSP00000345580:V131M;ENSP00000446242:V88M	ENSP00000328403:V131M	V	+	1	0	SLC25A10	77293457	0.756000	0.28383	0.692000	0.30179	0.175000	0.22909	0.177000	0.16801	-0.852000	0.04141	0.205000	0.17691	GTG		0.701	SLC25A10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000440816.1			7	14	0	0	0	0.00308	0	7	14					A	79683052	G	A	79683052	3	1	55	1	0	0	0	0	1	0	0	0	14472	1145	40	1	409	1	SLC25A10	17	79683052	Missense_Mutation	SNP	G	TCGA-DE-A0XZ-01A-11D-A17V-08	5679133	79683052	1512158	25	1301											
SALL3	27164	broad.mit.edu	37	chr18	76754115	76754115	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgggggagcggccgttcaaGtgcaagatctgcggccgcgc	17	12	2	1			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr18:76754115G>A	ENST00000537592.2	+	2	2124	c.2124G>A	c.(2122-2124)aaG>aaA	p.K708K	SALL3_ENST00000536229.3_Silent_p.K575K|SALL3_ENST00000575389.2_Silent_p.K708K	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	708					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|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(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GGCCGTTCAAGTGCAAGATCT	0.667																																						ENST00000536229.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(1723-1725)aaG>aaA		spalt-like transcription factor 3							35	33	34					18																	76754115		2203	4299	6502	SO:0001819	synonymous_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76754115G>A	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2124G>A	18.37:g.76754115G>A						SALL3_ENST00000537592.2_Silent_p.K708K|SALL3_ENST00000575389.2_Silent_p.K708K	p.K575K			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	1	2434	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	708					Q9UGH1	Silent	SNP	ENST00000537592.2	37	c.1725G>A	CCDS12013.1																																																																																				0.667	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		27	37	0	0	0	0.021523	0	27	37					A	76754115	G	A	76754115	2	1	55	1	0	0	0	0	0	0	0	1	13812	1020	36	2		2	SALL3	18	76754115	Silent	SNP	G	TCGA-DE-A0XZ-01A-11D-A17V-08		76754115	1323133	26	1302											
PLIN5	440503	broad.mit.edu	37	chr19	4523617	4523617	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgctcgcagatgtcccCggcaacacccatcctgtccc	7	19	0	1	rs372681667		TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr19:4523617C>G	ENST00000381848.3	-	8	1395	c.1315G>C	c.(1315-1317)Ggg>Cgg	p.G439R		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	439	Interaction with PNPLA2 and ABHD5. {ECO:0000250}.				lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CAGATGTCCCCGGCAACACCC	0.692											OREG0025168	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000381848.3																			0				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						c.(1315-1317)Ggg>Cgg		perilipin 5							79	91	87					19																	4523617		2044	4184	6228	SO:0001583	missense	440503					lipid particle		g.chr19:4523617C>G	DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"Perilipins"	33196	protein-coding gene	gene with protein product	"lipid storage droplet protein 5"	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.1315G>C	19.37:g.4523617C>G	ENSP00000371272:p.Gly439Arg		OREG0025168	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	619		p.G439R	NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN			8	1395	-			439					A2RRC1|Q6ZS68	Missense_Mutation	SNP	ENST00000381848.3	37	c.1315G>C	CCDS42473.1	.	.	.	.	.	.	.	.	.	.	C	4.121	0.020571	0.08006	.	.	ENSG00000214456	ENST00000381848	T	0.12255	2.7	3.97	2.93	0.34026	.	0.811422	0.10588	N	0.657055	T	0.09158	0.0226	N	0.19112	0.55	0.09310	N	0.999992	B	0.09022	0.002	B	0.10450	0.005	T	0.36114	-0.9761	10	0.31617	T	0.26	.	7.8486	0.29440	0.0:0.8805:0.0:0.1195	.	439	Q00G26	PLIN5_HUMAN	R	439	ENSP00000371272:G439R	ENSP00000371272:G439R	G	-	1	0	PLIN5	4474617	0.000000	0.05858	0.004000	0.12327	0.017000	0.09413	0.352000	0.20113	0.658000	0.30925	-0.221000	0.12465	GGG		0.692	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458647.1	NM_001013706		76	157	0	0	0	0.01441	0	76	157					G	4523617	C	G	4523617	3	3	55	1	0	0	0	0	1	0	0	0	12093	652	23	4	80	4	PLIN5	19	4523617	Missense_Mutation	SNP	C	TCGA-DE-A0XZ-01A-11D-A17V-08		4523617	54605366	27	1303											
KIR3DL1	3811	broad.mit.edu	37	chr19	55341608	55341608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcacagttggatcactgcGttttcacacagagaaaaatc	8	10	2	1			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr19:55341608G>A	ENST00000391728.4	+	9	1246	c.1213G>A	c.(1213-1215)Gtt>Att	p.V405I	KIR3DL1_ENST00000541392.1_Missense_Mutation_p.V388I|KIR2DS4_ENST00000339924.8_RNA|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.V310I|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.V405I|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.V388I	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	405					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GGATCACTGCGTTTTCACACA	0.507																																						ENST00000391728.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1213-1215)Gtt>Att		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1							264	243	250					19																	55341608		2171	4170	6341	SO:0001583	missense	3811							g.chr19:55341608G>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.1213G>A	19.37:g.55341608G>A	ENSP00000375608:p.Val405Ile					KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.V310I|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.V388I|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.V388I|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.V405I	p.V405I	NM_013289.2	NP_037421.2				GBM - Glioblastoma multiforme(193;0.0192)	9	1246	+								O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	c.1213G>A	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	-	3.877	-0.026815	0.07589	.	.	ENSG00000167633	ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T	0.00468	7.22;7.22;7.22;7.22;7.24	0.719	-0.563	0.11778	.	.	.	.	.	T	0.00356	0.0011	L	0.42529	1.33	0.09310	N	1	P;P;B	0.41008	0.703;0.735;0.358	B;B;B	0.37508	0.252;0.153;0.074	T	0.46190	-0.9209	8	0.72032	D	0.01	.	.	.	.	.	388;310;405	Q15702;Q14946;P43629	.;.;KI3L1_HUMAN	I	405;388;383;405;388;310	ENSP00000443350:V405I;ENSP00000442355:V388I;ENSP00000375608:V405I;ENSP00000326868:V388I;ENSP00000350901:V310I	ENSP00000326868:V388I	V	+	1	0	KIR3DL1	60033420	0.000000	0.05858	0.001000	0.08648	0.060000	0.15804	-0.432000	0.06956	-0.229000	0.09854	0.184000	0.17185	GTT		0.507	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		93	152	0	0	0	0.01441	0	93	152					A	55341608	G	A	55341608	3	1	55	1	0	0	0	0	1	0	0	0	8320	1145	40	1	1247	1	KIR3DL1	19	55341608	Missense_Mutation	SNP	G	TCGA-DE-A0XZ-01A-11D-A17V-08	50817991	55341608	3787375	28	1304											
CCDC106	29903	broad.mit.edu	37	chr19	56160648	56160648	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acccacagatcttttacagtCtgagcccctctcggagaaac	7	14	3	3			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr19:56160648C>G	ENST00000586790.1	+	2	1013	c.109C>G	c.(109-111)Ctg>Gtg	p.L37V	CCDC106_ENST00000588740.1_Missense_Mutation_p.L37V|CCDC106_ENST00000591578.1_Missense_Mutation_p.L37V|CCDC106_ENST00000308964.3_Missense_Mutation_p.L37V|CCDC106_ENST00000591241.1_Intron			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	37						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CTTTTACAGTCTGAGCCCCTC	0.592																																						ENST00000586790.1																			0				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11						c.(109-111)Ctg>Gtg		coiled-coil domain containing 106							109	107	108					19																	56160648		2203	4300	6503	SO:0001583	missense	29903					nucleus		g.chr19:56160648C>G	AF054984	CCDS33118.1	19q13.42	2013-09-20			ENSG00000173581	ENSG00000173581			30181	protein-coding gene	gene with protein product		613478				8619474, 9110174	Standard	XM_005258827		Approved	HSU79303	uc002qlr.3	Q9BWC9	OTTHUMG00000180907	ENST00000586790.1:c.109C>G	19.37:g.56160648C>G	ENSP00000465757:p.Leu37Val					CCDC106_ENST00000591578.1_Missense_Mutation_p.L37V|CCDC106_ENST00000591241.1_Intron|CCDC106_ENST00000588740.1_Missense_Mutation_p.L37V|CCDC106_ENST00000308964.3_Missense_Mutation_p.L37V	p.L37V			Q9BWC9	CC106_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	2	1013	+		Colorectal(82;0.00403)|Ovarian(87;0.133)	37					B3KUF9|D3K183|Q99786	Missense_Mutation	SNP	ENST00000586790.1	37	c.109C>G	CCDS33118.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757177	0.49468	.	.	ENSG00000173581	ENST00000308964	.	.	.	3.5	3.5	0.40072	.	0.000000	0.38720	N	0.001584	T	0.41811	0.1175	L	0.29908	0.895	0.80722	D	1	B	0.27229	0.172	B	0.26614	0.071	T	0.27706	-1.0066	9	0.23302	T	0.38	-31.6043	10.6973	0.45907	0.0:1.0:0.0:0.0	.	37	Q9BWC9	CC106_HUMAN	V	37	.	ENSP00000309681:L37V	L	+	1	2	CCDC106	60852460	0.998000	0.40836	1.000000	0.80357	0.933000	0.57130	2.652000	0.46682	1.981000	0.57761	0.561000	0.74099	CTG		0.592	CCDC106-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453593.1	NM_013301		3	150	0	0	0	0.004672	0	3	150					G	56160648	C	G	56160648	3	3	55	1	0	0	0	0	1	0	0	0	2741	912	32	4	115	4	CCDC106	19	56160648	Missense_Mutation	SNP	C	TCGA-DE-A0XZ-01A-11D-A17V-08	819040	56160648	2968335	29	1305											
ZBED1	9189	broad.mit.edu	37	chrX	2407561	2407561	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctgcttgaagggctgcagGagctccaccagcccctcgat	11	15	0	1			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chrX:2407561G>A	ENST00000381223.4	-	2	1403	c.1200C>T	c.(1198-1200)ctC>ctT	p.L400L	ZBED1_ENST00000515319.1_5'Flank|ZBED1_ENST00000381218.3_Silent_p.L400L|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Silent_p.L400L	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	400					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		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)				AGGGCTGCAGGAGCTCCACCA	0.637																																						ENST00000381223.4																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(1198-1200)ctC>ctT		zinc finger, BED-type containing 1		G	,,,	0,4406		0,0,2203	72	65	68		1200,1200,1200,	-6.1	0.0	X		68	1,8591		0,1,4295	no	coding-synonymous,coding-synonymous,coding-synonymous,intron	ZBED1,DHRSX	NM_001171135.1,NM_001171136.1,NM_004729.3,NM_145177.2	,,,	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	,,,	400/695,400/695,400/695,	2407561	1,12997	2203	4296	6499	SO:0001819	synonymous_variant	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2407561G>A	AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"Pseudoautosomal regions / PAR1", "Zinc fingers, BED-type"	447	protein-coding gene	gene with protein product		300178	"Ac-like transposable element"	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.1200C>T	X.37:g.2407561G>A						ZBED1_ENST00000381222.2_Silent_p.L400L|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381218.3_Silent_p.L400L	p.L400L	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN			2	1403	-		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)	400					Q96BY4	Silent	SNP	ENST00000381223.4	37	c.1200C>T	CCDS14118.1																																																																																				0.637	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729		17	63	0	0	0	0.004007	0	17	63					A	2407561	G	A	2407561	2	1	55	1	0	0	0	0	0	0	0	1	17514	1161	41	2		2	ZBED1	23	2407561	Silent	SNP	G	TCGA-DE-A0XZ-01A-11D-A17V-08		2407561	152862999	30	1306											
TCEAL3	85012	broad.mit.edu	37	chrX	102864558	102864558	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagtgaggggtggaggtaGgggccagaggggcttacacg	23	5	0	2			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chrX:102864558G>A	ENST00000372628.1	+	3	924	c.566G>A	c.(565-567)aGg>aAg	p.R189K	TCEAL3_ENST00000372627.5_Missense_Mutation_p.R189K|TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000243286.3_Missense_Mutation_p.R189K			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	189					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						GGTGGAGGTAGGGGCCAGAGG	0.507																																						ENST00000372628.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						c.(565-567)aGg>aAg		transcription elongation factor A (SII)-like 3							147	137	140					X																	102864558		2203	4300	6503	SO:0001583	missense	85012				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:102864558G>A	BC008703	CCDS14511.1	Xq22.2	2014-03-21			ENSG00000196507	ENSG00000196507			28247	protein-coding gene	gene with protein product						16221301	Standard	NM_032926		Approved	MGC15737, WEX8	uc004ekr.3	Q969E4	OTTHUMG00000022106	ENST00000372628.1:c.566G>A	X.37:g.102864558G>A	ENSP00000361711:p.Arg189Lys					TCEAL3_ENST00000243286.3_Missense_Mutation_p.R189K|TCEAL3_ENST00000372627.5_Missense_Mutation_p.R189K|TCEAL3_ENST00000477014.1_Intron	p.R189K			Q969E4	TCAL3_HUMAN			3	924	+			189					D3DXA4	Missense_Mutation	SNP	ENST00000372628.1	37	c.566G>A	CCDS14511.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.092544	0.36952	.	.	ENSG00000196507	ENST00000372628;ENST00000372627;ENST00000243286	T;T;T	0.38077	1.16;1.16;1.16	4.59	3.73	0.42828	.	0.000000	0.41712	D	0.000824	T	0.18383	0.0441	N	0.14661	0.345	0.27528	N	0.951174	B	0.28512	0.214	B	0.20767	0.031	T	0.10109	-1.0644	10	0.36615	T	0.2	.	7.3982	0.26948	0.1171:0.0:0.8829:0.0	.	189	Q969E4	TCAL3_HUMAN	K	189	ENSP00000361711:R189K;ENSP00000361710:R189K;ENSP00000243286:R189K	ENSP00000243286:R189K	R	+	2	0	TCEAL3	102751214	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	2.205000	0.42770	1.273000	0.44346	0.538000	0.68166	AGG		0.507	TCEAL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057737.1	NM_032926		12	190	0	0	0	0.020292	0	12	190					A	102864558	G	A	102864558	3	1	55	1	0	0	0	0	1	0	0	0	15669	1000	35	2	568	2	TCEAL3	23	102864558	Missense_Mutation	SNP	G	TCGA-DE-A0XZ-01A-11D-A17V-08	100456997	102864558	52406002	31	1307											
CALML6	163688	broad.mit.edu	37	chr1	1848280	1848280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagagcgagctgagggcgGcattccgtgtctttgacaaa	15	8	1	3			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr1:1848280G>A	ENST00000307786.3	+	4	797	c.343G>A	c.(343-345)Gca>Aca	p.A115T	CALML6_ENST00000462293.1_3'UTR	NM_138705.2	NP_619650.2	Q8TD86	CALL6_HUMAN	calmodulin-like 6	115	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.A115T(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	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;5.61e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GCTGAGGGCGGCATTCCGTGT	0.597																																						ENST00000307786.3																			2	Substitution - Missense(2)	p.A115T(2)	prostate(1)|lung(1)	NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7						c.(343-345)Gca>Aca		calmodulin-like 6							98	107	104					1																	1848280		2203	4300	6503	SO:0001583	missense	163688					cytoplasm|nucleus	calcium ion binding	g.chr1:1848280G>A	AF490905	CCDS30566.1	1p36.33	2013-01-10			ENSG00000169885	ENSG00000169885		"EF-hand domain containing"	24193	protein-coding gene	gene with protein product		610171					Standard	NM_138705		Approved	CAGLP	uc001aih.1	Q8TD86	OTTHUMG00000000943	ENST00000307786.3:c.343G>A	1.37:g.1848280G>A	ENSP00000304643:p.Ala115Thr					CALML6_ENST00000462293.1_3'UTR	p.A115T	NM_138705.2	NP_619650.2	Q8TD86	CALL6_HUMAN		Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	4	797	+	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;5.61e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	115			EF-hand 3.		A2A2M3|Q6Q2C4	Missense_Mutation	SNP	ENST00000307786.3	37	c.343G>A	CCDS30566.1	.	.	.	.	.	.	.	.	.	.	.	13.14	2.147600	0.37923	.	.	ENSG00000169885	ENST00000307786;ENST00000378604	T;T	0.74002	-0.8;-0.8	2.99	2.06	0.26882	EF-hand-like domain (1);	.	.	.	.	D	0.85035	0.5605	M	0.87038	2.855	0.27022	N	0.964453	D	0.89917	1.0	D	0.87578	0.998	T	0.73180	-0.4064	9	0.87932	D	0	.	5.8798	0.18848	0.1554:0.0:0.8446:0.0	.	115	Q8TD86	CALL6_HUMAN	T	115;98	ENSP00000304643:A115T;ENSP00000367867:A98T	ENSP00000304643:A115T	A	+	1	0	CALML6	1838140	0.056000	0.20664	0.030000	0.17652	0.359000	0.29487	1.847000	0.39299	0.594000	0.29761	0.313000	0.20887	GCA		0.597	CALML6-004	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276929.1	NM_138705		4	178	0	0	0	0.184627	0	4	178					A	1848280	G	A	1848280	3	1	56	1	0	0	0	0	1	0	0	0	2590	1203	42	2	357	2	CALML6	1	1848280	Missense_Mutation	SNP	G	TCGA-DE-A0Y2-01A-11D-A10S-08		1848280	247402341	1	1308											
TGFBR3	7049	broad.mit.edu	37	chr1	92200373	92200373	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtttcttgctatcttgagTtcggtgaatgaagtaactgc	10	6	2	3			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr1:92200373T>C	ENST00000525962.1	-	4	589	c.528A>G	c.(526-528)gaA>gaG	p.E176E	TGFBR3_ENST00000370399.2_Silent_p.E176E|TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000212355.4_Silent_p.E176E			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	176					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CTATCTTGAGTTCGGTGAATG	0.378																																						ENST00000212355.4																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(526-528)gaA>gaG		transforming growth factor, beta receptor III							179	182	181					1																	92200373		2203	4300	6503	SO:0001819	synonymous_variant	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92200373T>C	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"Proteoglycans / Cell surface : Other"	11774	protein-coding gene	gene with protein product	"betaglycan proteoglycan"	600742	"transforming growth factor, beta receptor III (betaglycan, 300kDa)"			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.528A>G	1.37:g.92200373T>C						TGFBR3_ENST00000525962.1_Silent_p.E176E|TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000370399.2_Silent_p.E176E	p.E176E	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	5	993	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	176					A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Silent	SNP	ENST00000525962.1	37	c.528A>G	CCDS30770.1																																																																																				0.378	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		13	308	0	0	0	0.435327	0	13	308					C	92200373	T	C	92200373	2	2	56	1	0	0	0	0	0	0	0	1	15820	1722	60	3		3	TGFBR3	1	92200373	Silent	SNP	T	TCGA-DE-A0Y2-01A-11D-A10S-08	90352093	92200373	157050248	2	1309											
OVGP1	5016	broad.mit.edu	37	chr1	111965622	111965622	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aacagcagcagacagcagcaGcctcgggcgcatggtgagca	14	12	0	2			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr1:111965622G>C	ENST00000369732.3	-	6	590	c.535C>G	c.(535-537)Ctg>Gtg	p.L179V	OVGP1_ENST00000481495.1_5'UTR|OVGP1_ENST00000540696.1_Missense_Mutation_p.L119V	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	179					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GACAGCAGCAGCCTCGGGCGC	0.542																																						ENST00000369732.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39						c.(535-537)Ctg>Gtg		oviductal glycoprotein 1, 120kDa							143	138	140					1																	111965622		2203	4300	6503	SO:0001583	missense	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111965622G>C	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"Mucins"	8524	protein-coding gene	gene with protein product	"oviductin"	603578	"mucin 9"	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.535C>G	1.37:g.111965622G>C	ENSP00000358747:p.Leu179Val					OVGP1_ENST00000540696.1_Missense_Mutation_p.L119V|OVGP1_ENST00000481495.1_5'UTR	p.L179V	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	6	590	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	179					A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	ENST00000369732.3	37	c.535C>G	CCDS834.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453217	0.63290	.	.	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000540696	T;T	0.06371	3.31;3.31	4.74	4.74	0.60224	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.64402	D	0.000001	T	0.20333	0.0489	M	0.87381	2.88	0.44523	D	0.997474	P;D	0.76494	0.877;0.999	D;D	0.87578	0.912;0.998	T	0.01561	-1.1324	10	0.87932	D	0	-4.9683	13.2091	0.59815	0.0:0.0:1.0:0.0	.	179;243	Q12889;Q59HH5	OVGP1_HUMAN;.	V	179;243;119	ENSP00000358747:L179V;ENSP00000438449:L119V	ENSP00000358743:L243V	L	-	1	2	OVGP1	111767145	0.996000	0.38824	0.996000	0.52242	0.616000	0.37450	2.458000	0.45014	2.176000	0.68965	0.591000	0.81541	CTG		0.542	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		110	106	0	0	0	0.870114	0	110	106					C	111965622	G	C	111965622	3	2	56	1	0	0	0	0	1	0	0	0	11325	962	34	4	1525	4	OVGP1	1	111965622	Missense_Mutation	SNP	G	TCGA-DE-A0Y2-01A-11D-A10S-08	19765249	111965622	137284999	3	1310											
TRAF3IP3	80342	broad.mit.edu	37	chr1	209933458	209933458	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctatgaggccaagtgtgagcGcaggcaagagatccgtgaaa	14	8	0	4	rs372493792	byFrequency	TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr1:209933458G>C	ENST00000367024.1	+	3	590	c.74G>C	c.(73-75)cGc>cCc	p.R25P	TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.R25P|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.R25P|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.R25P|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.R25P			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	25						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		AAGTGTGAGCGCAGGCAAGAG	0.627																																						ENST00000367024.1																			0				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(73-75)cGc>cCc		TRAF3 interacting protein 3							32	33	32					1																	209933458		2203	4300	6503	SO:0001583	missense	80342					integral to membrane	protein binding	g.chr1:209933458G>C		CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.74G>C	1.37:g.209933458G>C	ENSP00000355991:p.Arg25Pro					TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.R25P|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.R25P|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.R25P|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.R25P	p.R25P			Q9Y228	T3JAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.045)	3	590	+			25					A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Missense_Mutation	SNP	ENST00000367024.1	37	c.74G>C	CCDS1490.2	.	.	.	.	.	.	.	.	.	.	G	25.1	4.598904	0.87055	.	.	ENSG00000009790	ENST00000400959;ENST00000367025;ENST00000479796;ENST00000458110;ENST00000367026;ENST00000367024;ENST00000010338	T;T;T;T;T	0.70749	-0.51;0.45;-0.36;0.45;-0.36	5.66	5.66	0.87406	.	0.149239	0.38548	N	0.001642	D	0.82628	0.5078	M	0.67953	2.075	0.45899	D	0.998746	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.998	D	0.83973	0.0328	10	0.87932	D	0	-11.3909	15.2561	0.73585	0.0:0.0:1.0:0.0	.	25;25;25;25	Q9Y228;Q9Y228-2;Q9Y228-3;E2QRE5	T3JAM_HUMAN;.;.;.	P	25	ENSP00000383743:R25P;ENSP00000355992:R25P;ENSP00000355993:R25P;ENSP00000355991:R25P;ENSP00000010338:R25P	ENSP00000010338:R25P	R	+	2	0	TRAF3IP3	208000081	1.000000	0.71417	0.996000	0.52242	0.946000	0.59487	4.941000	0.63540	2.665000	0.90641	0.655000	0.94253	CGC		0.627	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2			4	49	0	0	0	0.150653	0	4	49					C	209933458	G	C	209933458	3	2	56	1	0	0	0	0	1	0	0	0	16439	1087	38	4	76	4	TRAF3IP3	1	209933458	Missense_Mutation	SNP	G	TCGA-DE-A0Y2-01A-11D-A10S-08	97967836	209933458	39317163	4	1311											
FAM84A	151354	broad.mit.edu	37	chr2	14774447	14774447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcgtctacgcggtcaccgCgctgccagcgctctgcgaac	12	16	3	0			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr2:14774447C>T	ENST00000295092.2	+	2	632	c.344C>T	c.(343-345)gCg>gTg	p.A115V	FAM84A_ENST00000331243.4_Missense_Mutation_p.A115V|AC011897.1_ENST00000581929.1_5'Flank	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	115										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			GCGGTCACCGCGCTGCCAGCG	0.692																																						ENST00000295092.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(343-345)gCg>gTg		family with sequence similarity 84, member A							8	9	9					2																	14774447		2155	4213	6368	SO:0001583	missense	151354							g.chr2:14774447C>T	AJ417080, BC026346	CCDS1684.1	2p24.3	2005-08-09			ENSG00000162981	ENSG00000162981			20743	protein-coding gene	gene with protein product	"neurological/sensory 1"	611234				14702039	Standard	NM_145175		Approved	NSE1, FLJ35392	uc002rbz.2	Q96KN4	OTTHUMG00000119093	ENST00000295092.2:c.344C>T	2.37:g.14774447C>T	ENSP00000295092:p.Ala115Val					FAM84A_ENST00000331243.4_Missense_Mutation_p.A115V	p.A115V	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	GBM - Glioblastoma multiforme(1;0.00969)		2	632	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		115					A6NP76|Q86UZ2|Q8NAH7|Q8TAM5	Missense_Mutation	SNP	ENST00000295092.2	37	c.344C>T	CCDS1684.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.570217	0.65765	.	.	ENSG00000162981	ENST00000295092;ENST00000331243;ENST00000359969	T;T	0.03607	3.87;3.87	4.96	4.96	0.65561	.	0.165665	0.53938	D	0.000052	T	0.03263	0.0095	L	0.29908	0.895	0.41696	D	0.989373	P	0.47604	0.898	B	0.35727	0.209	T	0.56517	-0.7966	10	0.45353	T	0.12	-22.5188	13.3278	0.60469	0.0:0.8415:0.1585:0.0	.	115	Q96KN4	FA84A_HUMAN	V	115	ENSP00000295092:A115V;ENSP00000330681:A115V	ENSP00000295092:A115V	A	+	2	0	FAM84A	14691898	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	3.212000	0.51145	2.426000	0.82243	0.655000	0.94253	GCG		0.692	FAM84A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239308.2	NM_145175		5	14	0	0	0	0.184627	0	5	14					T	14774447	C	T	14774447	3	4	56	1	0	0	0	0	1	0	0	0	5641	768	27	1	346	1	FAM84A	2	14774447	Missense_Mutation	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08		14774447	228424926	5	1312											
LMAN2L	81562	broad.mit.edu	37	chr2	97405604	97405604	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcctcaccctggtagggcttCgacagcgagtgctcccgttt	12	14	1	0			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr2:97405604C>T	ENST00000264963.4	-	1	196	c.174G>A	c.(172-174)tcG>tcA	p.S58S	LMAN2L_ENST00000426463.2_5'UTR|LMAN2L_ENST00000377079.4_Silent_p.S58S|LMAN2L_ENST00000534882.1_5'UTR|LMAN2L_ENST00000537039.1_5'UTR	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	58	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						GGTAGGGCTTCGACAGCGAGT	0.627																																						ENST00000264963.4																			0				NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						c.(172-174)tcG>tcA		lectin, mannose-binding 2-like							65	62	63					2																	97405604		2203	4300	6503	SO:0001819	synonymous_variant	81562				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding	g.chr2:97405604C>T	AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453	ENST00000264963.4:c.174G>A	2.37:g.97405604C>T						LMAN2L_ENST00000534882.1_5'UTR|LMAN2L_ENST00000426463.2_5'UTR|LMAN2L_ENST00000537039.1_5'UTR|LMAN2L_ENST00000377079.4_Silent_p.S58S	p.S58S	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN			1	196	-			58			L-type lectin-like.		B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	Silent	SNP	ENST00000264963.4	37	c.174G>A	CCDS2023.1																																																																																				0.627	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252844.1	NM_030805		33	51	0	0	0	0.788014	0	33	51					T	97405604	C	T	97405604	2	4	56	1	0	0	0	0	0	0	0	1	8839	871	31	1		1	LMAN2L	2	97405604	Silent	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08	82631157	97405604	145793769	6	1313											
ZFYVE20	64145	broad.mit.edu	37	chr3	15115677	15115677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattgtactctttcaggatgCgggctgaagggtctaaggaa	14	6	3	1	rs147577833	byFrequency	TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr3:15115677C>T	ENST00000253699.3	-	14	2580	c.1967G>A	c.(1966-1968)cGc>cAc	p.R656H	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.R656H	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	656	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						TTTCAGGATGCGGGCTGAAGG	0.562																																						ENST00000253699.3																			0				NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						c.(1966-1968)cGc>cAc		zinc finger, FYVE domain containing 20							121	122	122					3																	15115677		2203	4300	6503	SO:0001583	missense	64145				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chr3:15115677C>T	AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"Zinc fingers, FYVE domain containing"	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.1967G>A	3.37:g.15115677C>T	ENSP00000253699:p.Arg656His					ZFYVE20_ENST00000476527.2_Missense_Mutation_p.R656H	p.R656H	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN			14	2580	-			656			Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A.		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	ENST00000253699.3	37	c.1967G>A	CCDS2623.1	.	.	.	.	.	.	.	.	.	.	C	5.732	0.319588	0.10845	.	.	ENSG00000131381	ENST00000253699;ENST00000476527	T;T	0.52295	0.67;0.67	4.97	-9.08	0.00720	.	1.531570	0.03231	N	0.178906	T	0.20820	0.0501	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15925	-1.0420	10	0.28530	T	0.3	3.7456	8.903	0.35505	0.0:0.3211:0.1356:0.5433	.	656	Q9H1K0	RBNS5_HUMAN	H	656	ENSP00000253699:R656H;ENSP00000422551:R656H	ENSP00000253699:R656H	R	-	2	0	ZFYVE20	15090681	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-2.083000	0.00867	-1.405000	0.01134	CGC		0.562	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340		5	309	0	0	0	0.184627	0	5	309					T	15115677	C	T	15115677	3	4	56	1	0	0	0	0	1	0	0	0	17663	768	27	1	391	1	ZFYVE20	3	15115677	Missense_Mutation	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08		15115677	182906753	7	1314											
APPL1	26060	broad.mit.edu	37	chr3	57301791	57301791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgtgattctgttggactgGcaaaacagatagctttgcat	10	6	1	2			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr3:57301791G>A	ENST00000288266.3	+	20	2011	c.1864G>A	c.(1864-1866)Gca>Aca	p.A622T		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	622	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TGTTGGACTGGCAAAACAGAT	0.428																																						ENST00000288266.3																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27						c.(1864-1866)Gca>Aca		adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1							157	148	151					3																	57301791		2203	4300	6503	SO:0001583	missense	26060				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding	g.chr3:57301791G>A	AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"Pleckstrin homology (PH) domain containing"	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.1864G>A	3.37:g.57301791G>A	ENSP00000288266:p.Ala622Thr						p.A622T	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)	20	2011	+			622			PID.		Q9P2B9	Missense_Mutation	SNP	ENST00000288266.3	37	c.1864G>A	CCDS2882.1	.	.	.	.	.	.	.	.	.	.	G	35	5.514238	0.96402	.	.	ENSG00000157500	ENST00000288266	T	0.34472	1.36	5.52	5.52	0.82312	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.61489	0.2351	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.995	T	0.63629	-0.6594	10	0.87932	D	0	-23.9392	19.4335	0.94781	0.0:0.0:1.0:0.0	.	605;622	B4DQX8;Q9UKG1	.;DP13A_HUMAN	T	622	ENSP00000288266:A622T	ENSP00000288266:A622T	A	+	1	0	APPL1	57276831	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.342000	0.90049	2.583000	0.87209	0.555000	0.69702	GCA		0.428	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	NM_012096		4	98	0	0	0	0.150653	0	4	98					A	57301791	G	A	57301791	3	1	56	1	0	0	0	0	1	0	0	0	817	1203	42	2	1942	2	APPL1	3	57301791	Missense_Mutation	SNP	G	TCGA-DE-A0Y2-01A-11D-A10S-08	42186114	57301791	140720639	8	1315											
DGKG	1608	broad.mit.edu	37	chr3	185929649	185929649	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agtctccgaggtgccaaattCaaagtaccacagcttgttct	8	11	3	0			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr3:185929649C>A	ENST00000265022.3	-	21	2391	c.1852G>T	c.(1852-1854)Gaa>Taa	p.E618*	DGKG_ENST00000382164.4_Nonsense_Mutation_p.E579*|DGKG_ENST00000544847.1_Nonsense_Mutation_p.E559*|DGKG_ENST00000344484.4_Nonsense_Mutation_p.E593*	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	618					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	GTGCCAAATTCAAAGTACCAC	0.453																																						ENST00000265022.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42						c.(1852-1854)Gaa>Taa		diacylglycerol kinase, gamma 90kDa	Phosphatidylserine(DB00144)						121	116	118					3																	185929649		2203	4300	6503	SO:0001587	stop_gained	1608				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr3:185929649C>A	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"EF-hand domain containing"	2853	protein-coding gene	gene with protein product		601854	"diacylglycerol kinase, gamma (90kD)"	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.1852G>T	3.37:g.185929649C>A	ENSP00000265022:p.Glu618*					DGKG_ENST00000382164.4_Nonsense_Mutation_p.E579*|DGKG_ENST00000344484.4_Nonsense_Mutation_p.E593*|DGKG_ENST00000544847.1_Nonsense_Mutation_p.E559*	p.E618*	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	21	2391	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		618					B2RAH4|Q2M1H4|Q5FWG1	Nonsense_Mutation	SNP	ENST00000265022.3	37	c.1852G>T	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	C	45	11.886417	0.99614	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847;ENST00000538691	.	.	.	5.93	5.93	0.95920	.	0.108349	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.1151	0.93334	0.0:1.0:0.0:0.0	.	.	.	.	X	618;593;579;559;582	.	ENSP00000265022:E618X	E	-	1	0	DGKG	187412343	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.431000	0.80335	2.802000	0.96397	0.563000	0.77884	GAA		0.453	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			4	100	1	0	0.00024832	0.150653	0.0003104	4	100					A	185929649	C	A	185929649	4	1	56	1	0	0	0	0	0	1	0	0	4469	835	29	4	543	4	DGKG	3	185929649	Nonsense_Mutation	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08	128627858	185929649	12092781	9	1316											
THAP9	79725	broad.mit.edu	37	chr4	83838413	83838413	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagagcatctggatatttgCaggctcagctgcttcgtctg	11	10	3	1			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr4:83838413C>T	ENST00000302236.5	+	5	1099	c.1048C>T	c.(1048-1050)Cag>Tag	p.Q350*	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	350					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				TGGATATTTGCAGGCTCAGCT	0.423																																						ENST00000302236.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33						c.(1048-1050)Cag>Tag		THAP domain containing 9							93	94	94					4																	83838413		2203	4300	6503	SO:0001587	stop_gained	79725						DNA binding|metal ion binding	g.chr4:83838413C>T	AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"THAP (C2CH-type zinc finger) domain containing"	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.1048C>T	4.37:g.83838413C>T	ENSP00000305533:p.Gln350*					LIN54_ENST00000505905.1_Intron	p.Q350*	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN			5	1099	+		Hepatocellular(203;0.114)	350					B3KRE2|Q59AC9	Nonsense_Mutation	SNP	ENST00000302236.5	37	c.1048C>T	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.613689	0.28712	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	.	.	.	3.6	3.6	0.41247	.	0.000000	0.36444	N	0.002589	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.0039	13.5587	0.61775	0.0:1.0:0.0:0.0	.	.	.	.	X	350	.	ENSP00000305533:Q350X	Q	+	1	0	THAP9	84057437	0.984000	0.35163	1.000000	0.80357	0.192000	0.23643	2.881000	0.48538	2.310000	0.77875	0.650000	0.86243	CAG		0.423	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672		4	204	0	0	0	0.150653	0	4	204					T	83838413	C	T	83838413	4	4	56	1	0	0	0	0	0	1	0	0	15848	711	25	2	1066	2	THAP9	4	83838413	Nonsense_Mutation	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08		83838413	107315863	10	1317											
RIOK2	55781	broad.mit.edu	37	chr5	96498929	96498929	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caccttctgtttcaccagttCctggaaagatttcataaatt	5	10	3	1			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr5:96498929C>T	ENST00000283109.3	-	10	1563	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K	CTD-2215E18.1_ENST00000509481.1_Intron	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	499	Protein kinase.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		TTCACCAGTTCCTGGAAAGAT	0.328																																						ENST00000283109.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23						c.e10-1		RIO kinase 2							90	81	84					5																	96498929		2202	4299	6501	SO:0001630	splice_region_variant	55781						ATP binding|protein serine/threonine kinase activity	g.chr5:96498929C>T	AK002021	CCDS4089.1, CCDS54884.1	5q14	2012-12-10	2012-12-10		ENSG00000058729	ENSG00000058729			18999	protein-coding gene	gene with protein product			"RIO kinase 2 (yeast)"				Standard	NM_018343		Approved	FLJ11159	uc003kmz.3	Q9BVS4	OTTHUMG00000128723	ENST00000283109.3:c.1495-1G>A	5.37:g.96498929C>T						CTD-2215E18.1_ENST00000509481.1_Intron	p.E499_splice	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN		COAD - Colon adenocarcinoma(37;0.0657)	10	1563	-		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)	499			Protein kinase.		D6RDI3|Q9NUT0	Splice_Site	SNP	ENST00000283109.3	37	c.1494_splice	CCDS4089.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.0|26.0	4.699654|4.699654	0.88830|0.88830	.|.	.|.	ENSG00000058729|ENSG00000058729	ENST00000283109|ENST00000511293	T|.	0.25579|.	1.79|.	5.7|5.7	4.82|4.82	0.62117|0.62117	.|.	0.148942|.	0.64402|.	D|.	0.000017|.	T|T	0.69495|0.69495	0.3117|0.3117	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	P|.	0.49961|.	0.93|.	B|.	0.38985|.	0.287|.	T|T	0.67273|0.67273	-0.5712|-0.5712	10|5	0.46703|.	T|.	0.11|.	-7.7547|-7.7547	14.758|14.758	0.69583|0.69583	0.0:0.9287:0.0:0.0713|0.0:0.9287:0.0:0.0713	.|.	499|.	Q9BVS4|.	RIOK2_HUMAN|.	K|K	499|105	ENSP00000283109:E499K|.	ENSP00000283109:E499K|.	E|R	-|-	1|2	0|0	RIOK2|RIOK2	96524685|96524685	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.796000|0.796000	0.44982|0.44982	5.691000|5.691000	0.68249|0.68249	2.692000|2.692000	0.91855|0.91855	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.328	RIOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250628.1	NM_018343	Missense_Mutation	39	49	0	0	0	0.812448	0	39	49					T	96498929	C	T	96498929	5	4	56	1	0	0	0	0	0	0	1	0	13378	869	30	2	167	2	RIOK2	5	96498929	Splice_Site	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08		96498929	84416331	11	1318											
THEMIS	387357	broad.mit.edu	37	chr6	128134235	128134238	+	Frame_Shift_Del	DEL	ACTA	ACTA	-													tctgcatccctagagaaattActaactaactgaacagtcat					rs150659844		TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr6:128134235_128134238delACTA	ENST00000368248.2	-	4	1696_1699	c.1548_1551delTAGT	c.(1546-1551)gttagtfs	p.VS516fs	THEMIS_ENST00000537166.1_Frame_Shift_Del_p.VS481fs|THEMIS_ENST00000543064.1_Frame_Shift_Del_p.VS516fs|THEMIS_ENST00000368250.1_Frame_Shift_Del_p.VS437fs	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	516	CABIT 2.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TAGAGAAATTACTAACTAACTGAA	0.441																																						ENST00000368250.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						c.(1309-1314)gtfs		thymocyte selection associated																																				SO:0001589	frameshift_variant	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128134235_128134238delACTA	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"thymocyte expressed molecule involved in selection"	613607	"chromosome 6 open reading frame 207", "chromosome 6 open reading frame 190", "thymocyte selection pathway associated"	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1548_1551delTAGT	6.37:g.128134239_128134242delACTA	ENSP00000357231:p.Val516fs					THEMIS_ENST00000537166.1_Frame_Shift_Del_p.VS481fs|THEMIS_ENST00000368248.2_Frame_Shift_Del_p.VS516fs|THEMIS_ENST00000543064.1_Frame_Shift_Del_p.VS516fs	p.VS437fs			Q8N1K5	THMS1_HUMAN			5	1809_1812	-			516			CABIT 2.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Frame_Shift_Del	DEL	ENST00000368248.2	37	c.1311_1314delTAGT	CCDS34534.1																																																																																				0.441	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		50	76						50	76	---	---	---	---	-	128134238	ACTA	-	128134235	7	5	56	1	0	1	0	1	0	0	0	0	15857	388	14	0	507	0	THEMIS	6	128134235	Frame_Shift_Del	DEL	ACTA	TCGA-DE-A0Y2-01A-11D-A10S-08		128134235	42980832	12	1319											
MOS	4342	broad.mit.edu	37	chr8	57026479	57026479	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggactgctgcagggccgCgcgtccaccgatggggaaaa	17	11	0	0	rs374238566		TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr8:57026479C>T	ENST00000311923.1	-	1	62	c.63G>A	c.(61-63)gcG>gcA	p.A21A		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	21					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|chromatin organization (GO:0006325)|establishment of meiotic spindle orientation (GO:0051296)|MAPK cascade (GO:0000165)|meiotic spindle organization (GO:0000212)|negative regulation of metaphase/anaphase transition of meiotic cell cycle (GO:1902103)|protein autophosphorylation (GO:0046777)|regulation of meiosis (GO:0040020)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)	p.A21A(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			TGCAGGGCCGCGCGTCCACCG	0.706																																					Esophageal Squamous(124;373 2870 4778)	ENST00000311923.1																			1	Substitution - coding silent(1)	p.A21A(1)	lung(1)	breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22						c.(61-63)gcG>gcA		v-mos Moloney murine sarcoma viral oncogene homolog		C		2,4394		0,2,2196	17	20	19		63	-1.6	0.4	8		19	0,8584		0,0,4292	no	coding-synonymous	MOS	NM_005372.1		0,2,6488	TT,TC,CC		0.0,0.0455,0.0154		21/347	57026479	2,12978	2198	4292	6490	SO:0001819	synonymous_variant	4342						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr8:57026479C>T		CCDS6164.1	8q11	2012-10-02			ENSG00000172680	ENSG00000172680			7199	protein-coding gene	gene with protein product		190060				9552420	Standard	NM_005372		Approved		uc011leb.2	P00540	OTTHUMG00000164299	ENST00000311923.1:c.63G>A	8.37:g.57026479C>T							p.A21A	NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	Epithelial(17;0.00117)|all cancers(17;0.00879)		1	62	-			21					Q3KPG9|Q3KPH0	Silent	SNP	ENST00000311923.1	37	c.63G>A	CCDS6164.1																																																																																				0.706	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378174.1	NM_005372		23	36	0	0	0	0.624587	0	23	36					T	57026479	C	T	57026479	2	4	56	1	0	0	0	0	0	0	0	1	9712	755	27	1		1	MOS	8	57026479	Silent	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08		57026479	89337543	13	1320											
PLEC	5339	broad.mit.edu	37	chr8	145009091	145009091	+	Frame_Shift_Del	DEL	G	G	-													gtactcctgccagcgcagctGcagctcctgcgggcaggcac					rs137853160		TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr8:145009091delG	ENST00000322810.4	-	9	1412	c.1243delC	c.(1243-1245)cagfs	p.Q415fs	PLEC_ENST00000345136.3_Frame_Shift_Del_p.Q278fs|PLEC_ENST00000527096.1_Frame_Shift_Del_p.Q301fs|PLEC_ENST00000354589.3_Frame_Shift_Del_p.Q278fs|PLEC_ENST00000357649.2_Frame_Shift_Del_p.Q282fs|PLEC_ENST00000436759.2_Frame_Shift_Del_p.Q305fs|PLEC_ENST00000354958.2_Frame_Shift_Del_p.Q256fs|PLEC_ENST00000356346.3_Frame_Shift_Del_p.Q264fs|PLEC_ENST00000398774.2_Frame_Shift_Del_p.Q246fs	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	415	Globular 1.				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						CAGCGCAGCTGCAGCTCCTGC	0.706																																						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	GRCh37	CM050308	PLEC	M	rs137853160	c.(1243-1245)agfs		plectin							17	25	22					8																	145009091		2047	4182	6229	SO:0001589	frameshift_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.chr8:145009091delG	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.1243delC	8.37:g.145009091delG	ENSP00000323856:p.Gln415fs					PLEC_ENST00000345136.3_Frame_Shift_Del_p.Q278fs|PLEC_ENST00000436759.2_Frame_Shift_Del_p.Q305fs|PLEC_ENST00000356346.3_Frame_Shift_Del_p.Q264fs|PLEC_ENST00000354589.3_Frame_Shift_Del_p.Q278fs|PLEC_ENST00000357649.2_Frame_Shift_Del_p.Q282fs|PLEC_ENST00000354958.2_Frame_Shift_Del_p.Q256fs|PLEC_ENST00000527096.1_Frame_Shift_Del_p.Q301fs|PLEC_ENST00000398774.2_Frame_Shift_Del_p.Q246fs	p.Q415fs	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			9	1412	-			415			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Frame_Shift_Del	DEL	ENST00000322810.4	37	c.1243delC	CCDS43772.1																																																																																				0.706	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		19	31						19	31	---	---	---	---	-	145009091	G	-	145009091	7	5	56	1	0	1	0	1	0	0	0	0	12052	1328	46	0	12907	0	PLEC	8	145009091	Frame_Shift_Del	DEL	G	TCGA-DE-A0Y2-01A-11D-A10S-08	87982612	145009091	1354931	14	1321											
ZFAND5	7763	broad.mit.edu	37	chr9	74971943	74971943	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actctgagaagtactgggctGagaaactgatggactgggct	14	7	1	3			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr9:74971943G>A	ENST00000237937.3	-	5	954	c.397C>T	c.(397-399)Cag>Tag	p.Q133*	ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000376962.5_Nonsense_Mutation_p.Q133*|ZFAND5_ENST00000376960.4_Nonsense_Mutation_p.Q133*|ZFAND5_ENST00000343431.2_Nonsense_Mutation_p.Q133*	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	133					face development (GO:0060324)|fibroblast migration (GO:0010761)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|respiratory system process (GO:0003016)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.Q133*(1)		cervix(1)|kidney(2)|lung(2)|prostate(1)	6						GTACTGGGCTGAGAAACTGAT	0.383																																						ENST00000237937.3																			1	Substitution - Nonsense(1)	p.Q133*(1)	kidney(1)	cervix(1)|kidney(2)|lung(2)|prostate(1)	6						c.(397-399)Cag>Tag		zinc finger, AN1-type domain 5							109	100	103					9																	74971943		2203	4299	6502	SO:0001587	stop_gained	0						DNA binding|zinc ion binding	g.chr9:74971943G>A	AF062072	CCDS6642.1	9q13-q21	2008-05-02	2006-07-07	2006-07-07	ENSG00000107372	ENSG00000107372		"Zinc fingers, AN1-type domain containing"	13008	protein-coding gene	gene with protein product		604761	"zinc finger protein 216", "zinc finger, A20 domain containing 2"	ZNF216, ZA20D2		9758550	Standard	NM_001278243		Approved	ZFAND5A	uc004aiy.2	O76080	OTTHUMG00000020008	ENST00000237937.3:c.397C>T	9.37:g.74971943G>A	ENSP00000237937:p.Gln133*					ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000343431.2_Nonsense_Mutation_p.Q133*|ZFAND5_ENST00000376960.4_Nonsense_Mutation_p.Q133*|ZFAND5_ENST00000376962.5_Nonsense_Mutation_p.Q133*	p.Q133*	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN			5	954	-			133					A8K484	Nonsense_Mutation	SNP	ENST00000237937.3	37	c.397C>T	CCDS6642.1	.	.	.	.	.	.	.	.	.	.	G	40	8.252544	0.98727	.	.	ENSG00000107372	ENST00000237937;ENST00000376960;ENST00000376962;ENST00000343431;ENST00000376956	.	.	.	6.17	6.17	0.99709	.	0.377447	0.33092	N	0.005282	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-4.3916	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	133;133;133;133;185	.	ENSP00000237937:Q133X	Q	-	1	0	ZFAND5	74161763	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.747000	0.47475	2.941000	0.99782	0.655000	0.94253	CAG		0.383	ZFAND5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052644.1			35	51	0	0	0	0.788014	0	35	51					A	74971943	G	A	74971943	4	1	56	1	0	0	0	0	0	1	0	0	17627	1299	45	2	252	2	ZFAND5	9	74971943	Nonsense_Mutation	SNP	G	TCGA-DE-A0Y2-01A-11D-A10S-08		74971943	66241488	15	1322											
TDRD7	23424	broad.mit.edu	37	chr9	100245294	100245294	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catatccagtggagctgactCtcccaacagcaaaaatggca	8	12	1	1			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr9:100245294C>T	ENST00000355295.4	+	15	2871	c.2576C>T	c.(2575-2577)tCt>tTt	p.S859F	TDRD7_ENST00000540902.1_Missense_Mutation_p.S179F|TDRD7_ENST00000422139.2_Missense_Mutation_p.S785F	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	859					germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				GGAGCTGACTCTCCCAACAGC	0.463																																						ENST00000355295.4																			0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2575-2577)tCt>tTt		tudor domain containing 7							82	77	79					9																	100245294		2203	4300	6503	SO:0001583	missense	23424				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding	g.chr9:100245294C>T	AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"Tudor domain containing"	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.2576C>T	9.37:g.100245294C>T	ENSP00000347444:p.Ser859Phe					TDRD7_ENST00000422139.2_Missense_Mutation_p.S785F|TDRD7_ENST00000540902.1_Missense_Mutation_p.S179F	p.S859F	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN			15	2871	+		Acute lymphoblastic leukemia(62;0.158)	859					A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Missense_Mutation	SNP	ENST00000355295.4	37	c.2576C>T	CCDS6725.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.387522	0.25031	.	.	ENSG00000196116	ENST00000355295;ENST00000422139;ENST00000540902	T;T;T	0.24151	2.65;2.65;1.87	5.44	4.5	0.54988	.	0.734758	0.13008	N	0.421118	T	0.20941	0.0504	L	0.36672	1.1	0.09310	N	1	B;B;B	0.14012	0.002;0.009;0.002	B;B;B	0.18561	0.006;0.022;0.003	T	0.13202	-1.0518	10	0.39692	T	0.17	-5.7087	8.9495	0.35781	0.0:0.8177:0.0:0.1823	.	179;785;859	Q8NHU6-3;Q8NHU6-2;Q8NHU6	.;.;TDRD7_HUMAN	F	859;785;179	ENSP00000347444:S859F;ENSP00000413608:S785F;ENSP00000440717:S179F	ENSP00000347444:S859F	S	+	2	0	TDRD7	99285115	0.000000	0.05858	0.170000	0.22879	0.610000	0.37248	0.522000	0.22909	1.539000	0.49286	0.650000	0.86243	TCT		0.463	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290		40	51	0	0	0	0.819951	0	40	51					T	100245294	C	T	100245294	3	4	56	1	0	0	0	0	1	0	0	0	15732	913	32	2	2630	2	TDRD7	9	100245294	Missense_Mutation	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08	25273351	100245294	40968137	16	1323											
TOR1A	1861	broad.mit.edu	37	chr9	132584984	132584984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgctgacgaaatttttgCcggtgcctgtccacccgtgc	10	13	1	1			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr9:132584984C>T	ENST00000351698.4	-	2	368	c.320G>A	c.(319-321)gGc>gAc	p.G107D	TOR1A_ENST00000473084.1_5'UTR	NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	107	Interaction with SNAPIN.				ATP catabolic process (GO:0006200)|cell adhesion (GO:0007155)|chaperone mediated protein folding requiring cofactor (GO:0051085)|chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|ER-associated misfolded protein catabolic process (GO:0071712)|intermediate filament cytoskeleton organization (GO:0045104)|neuron projection development (GO:0031175)|nuclear envelope organization (GO:0006998)|nuclear membrane organization (GO:0071763)|organelle organization (GO:0006996)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|protein deneddylation (GO:0000338)|protein homooligomerization (GO:0051260)|protein localization to nucleus (GO:0034504)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of protein localization to cell surface (GO:2000008)|response to oxidative stress (GO:0006979)|synaptic vesicle transport (GO:0048489)|wound healing, spreading of cells (GO:0044319)	cell junction (GO:0030054)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cytoskeletal protein binding (GO:0008092)|kinesin binding (GO:0019894)|unfolded protein binding (GO:0051082)	p.G107D(4)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				GAAATTTTTGCCGGTGCCTGT	0.468																																						ENST00000351698.4																			4	Substitution - Missense(4)	p.G107D(4)	kidney(3)|lung(1)	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(319-321)gGc>gAc		torsin family 1, member A (torsin A)							226	200	209					9																	132584984		2203	4300	6503	SO:0001583	missense	1861				chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding	g.chr9:132584984C>T	AF007871	CCDS6930.1	9q32-q34	2008-07-21	2004-11-24	2004-11-26	ENSG00000136827	ENSG00000136827			3098	protein-coding gene	gene with protein product		605204	"dystonia 1, torsion (autosomal dominant; torsin A)"	DYT1		10644435	Standard	NM_000113		Approved	DQ2	uc004byl.3	O14656	OTTHUMG00000020794	ENST00000351698.4:c.320G>A	9.37:g.132584984C>T	ENSP00000345719:p.Gly107Asp					TOR1A_ENST00000473084.1_5'UTR	p.G107D	NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN			2	368	-		Ovarian(14;0.00556)	107					B2RB58|Q53Y64|Q96CA0	Missense_Mutation	SNP	ENST00000351698.4	37	c.320G>A	CCDS6930.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.838232	0.71373	.	.	ENSG00000136827	ENST00000351698	D	0.92099	-2.97	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.97281	0.9111	H	0.94462	3.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98397	1.0566	10	0.87932	D	0	-8.4354	17.7332	0.88384	0.0:1.0:0.0:0.0	.	107;107	O14656-2;O14656	.;TOR1A_HUMAN	D	107	ENSP00000345719:G107D	ENSP00000345719:G107D	G	-	2	0	TOR1A	131624805	1.000000	0.71417	0.995000	0.50966	0.072000	0.16883	7.484000	0.81180	2.439000	0.82584	0.561000	0.74099	GGC		0.468	TOR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054611.1	NM_000113		5	350	0	0	0	0.217242	0	5	350					T	132584984	C	T	132584984	3	4	56	1	0	0	0	0	1	0	0	0	16368	739	26	2	694	2	TOR1A	9	132584984	Missense_Mutation	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08	32339690	132584984	8628447	17	1324											
SARDH	1757	broad.mit.edu	37	chr9	136529067	136529067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagggcgacttcaggtgagCctgggcaccataggtcaccc	14	12	2	1			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr9:136529067C>T	ENST00000371872.4	-	21	2958	c.2701G>A	c.(2701-2703)Gct>Act	p.A901T	SARDH_ENST00000422262.2_Missense_Mutation_p.A733T|SARDH_ENST00000439388.1_Missense_Mutation_p.A901T|SARDH_ENST00000469828.1_5'Flank|SARDH_ENST00000371868.1_Missense_Mutation_p.A351T	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	901					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TTCAGGTGAGCCTGGGCACCA	0.577																																						ENST00000371872.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(2701-2703)Gct>Act		sarcosine dehydrogenase							173	132	146					9																	136529067		2203	4300	6503	SO:0001583	missense	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136529067C>T		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.2701G>A	9.37:g.136529067C>T	ENSP00000360938:p.Ala901Thr					SARDH_ENST00000439388.1_Missense_Mutation_p.A901T|SARDH_ENST00000422262.2_Missense_Mutation_p.A733T|SARDH_ENST00000371868.1_Missense_Mutation_p.A351T	p.A901T	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	21	2958	-			901					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	c.2701G>A	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043856	0.36085	.	.	ENSG00000123453	ENST00000371872;ENST00000371868;ENST00000439388;ENST00000422262	T;T;T;T	0.81247	-0.7;-1.47;-0.7;-1.1	4.69	4.69	0.59074	.	0.063397	0.64402	D	0.000006	T	0.81678	0.4873	M	0.74881	2.28	0.80722	D	1	B;B	0.31485	0.325;0.325	B;B	0.32677	0.075;0.15	D	0.83484	0.0066	10	0.66056	D	0.02	-4.0099	17.5989	0.88020	0.0:1.0:0.0:0.0	.	901;351	Q9UL12;Q5SYV2	SARDH_HUMAN;.	T	901;351;901;733	ENSP00000360938:A901T;ENSP00000360934:A351T;ENSP00000403084:A901T;ENSP00000415537:A733T	ENSP00000360934:A351T	A	-	1	0	SARDH	135518888	1.000000	0.71417	0.774000	0.31636	0.010000	0.07245	6.779000	0.75057	2.337000	0.79520	0.561000	0.74099	GCT		0.577	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			7	140	0	0	0	0.27861	0	7	140					T	136529067	C	T	136529067	3	4	56	1	0	0	0	0	1	0	0	0	13841	739	26	2	59	2	SARDH	9	136529067	Missense_Mutation	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08	3944083	136529067	4684364	18	1325											
FBXO18	84893	broad.mit.edu	37	chr10	5948520	5948520	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgaggcacgtgtttgccttCctcccggtggaagacctcta	11	13	1	2			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr10:5948520C>T	ENST00000362091.4	+	3	793	c.678C>T	c.(676-678)ttC>ttT	p.F226F	FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000379999.5_Silent_p.F277F|FBXO18_ENST00000470089.1_3'UTR	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	226					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						TGTTTGCCTTCCTCCCGGTGG	0.572																																						ENST00000379999.5																			0				NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						c.(829-831)ttC>ttT		F-box protein, helicase, 18							87	75	79					10																	5948520		2203	4300	6503	SO:0001819	synonymous_variant	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5948520C>T	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"F-boxes /  "other""	13620	protein-coding gene	gene with protein product		607222	"F-box only protein 18"			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.678C>T	10.37:g.5948520C>T						FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000362091.4_Silent_p.F226F	p.F277F	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN			4	935	+			226					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Silent	SNP	ENST00000362091.4	37	c.831C>T	CCDS7072.1																																																																																				0.572	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		7	142	0	0	0	0.27861	0	7	142					T	5948520	C	T	5948520	2	4	56	1	0	0	0	0	0	0	0	1	5731	854	30	2		2	FBXO18	10	5948520	Silent	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08		5948520	129586227	19	1326											
JMJD1C	221037	broad.mit.edu	37	chr10	64967027	64967027	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgagaacccagaactgggttGaacaacacttcctgtcttac	8	11	1	3			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr10:64967027G>A	ENST00000399262.2	-	10	4620	c.4402C>T	c.(4402-4404)Caa>Taa	p.Q1468*	JMJD1C_ENST00000402544.1_Nonsense_Mutation_p.Q1249*|JMJD1C_ENST00000542921.1_Nonsense_Mutation_p.Q1286*|JMJD1C_ENST00000399251.1_Nonsense_Mutation_p.Q1249*	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1468					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)					GAACTGGGTTGAACAACACTT	0.433																																						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.(4402-4404)Caa>Taa		jumonji domain containing 1C							99	98	99					10																	64967027		1973	4179	6152	SO:0001587	stop_gained	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.chr10:64967027G>A	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.4402C>T	10.37:g.64967027G>A	ENSP00000382204:p.Gln1468*					JMJD1C_ENST00000542921.1_Nonsense_Mutation_p.Q1286*|JMJD1C_ENST00000399251.1_Nonsense_Mutation_p.Q1249*|JMJD1C_ENST00000402544.1_Nonsense_Mutation_p.Q1249*	p.Q1468*	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			10	4620	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1468					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Nonsense_Mutation	SNP	ENST00000399262.2	37	c.4402C>T	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	G	49	14.964999	0.99817	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	.	.	.	5.6	5.6	0.85130	.	0.362700	0.31041	N	0.008373	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-7.5211	19.6028	0.95570	0.0:0.0:1.0:0.0	.	.	.	.	X	1468;1249;1249;1286	.	ENSP00000382195:Q1249X	Q	-	1	0	JMJD1C	64637033	1.000000	0.71417	1.000000	0.80357	0.573000	0.36030	9.520000	0.98027	2.648000	0.89879	0.591000	0.81541	CAA		0.433	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		76	98	0	0	0	0.870114	0	76	98					A	64967027	G	A	64967027	4	1	56	1	0	0	0	0	0	1	0	0	7950	1299	45	2	3288	2	JMJD1C	10	64967027	Nonsense_Mutation	SNP	G	TCGA-DE-A0Y2-01A-11D-A10S-08	59018507	64967027	70567720	20	1327											
GPR120	338557	broad.mit.edu	37	chr10	95326832	95326832	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgctcttctacgtgatgAccctgagcggcagcgtcacc	10	15	3	3			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr10:95326832A>G	ENST00000371483.4	+	1	411	c.355A>G	c.(355-357)Acc>Gcc	p.T119A	FFAR4_ENST00000604414.1_Missense_Mutation_p.T119A|FFAR4_ENST00000371481.4_Missense_Mutation_p.T119A	NM_181745.3	NP_859529.2	Q5NUL3	FFAR4_HUMAN	free fatty acid receptor 4	119					hormone secretion (GO:0046879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of inflammatory response (GO:0050728)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of glucose transport (GO:0010827)	endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fatty acid binding (GO:0005504)|taste receptor activity (GO:0008527)										CTACGTGATGACCCTGAGCGG	0.687																																						ENST00000371483.4																			0											c.(355-357)Acc>Gcc		free fatty acid receptor 4							34	33	33					10																	95326832		2203	4298	6501	SO:0001583	missense	338557							g.chr10:95326832A>G		CCDS31248.1, CCDS55720.1	10q23.33	2012-11-16	2012-11-16	2012-11-16	ENSG00000186188	ENSG00000186188		"GPCR / Class A : Fatty acid receptors"	19061	protein-coding gene	gene with protein product		609044	"G protein-coupled receptor 129", "G protein-coupled receptor 120", "omega-3 fatty acid receptor 1"	GPR129, GPR120, O3FAR1		20471368, 19723586, 15619630, 20813258	Standard	NM_181745		Approved	PGR4	uc010qnt.2	Q5NUL3	OTTHUMG00000034409	ENST00000371483.4:c.355A>G	10.37:g.95326832A>G	ENSP00000360538:p.Thr119Ala					FFAR4_ENST00000604414.1_Missense_Mutation_p.T119A|FFAR4_ENST00000371481.4_Missense_Mutation_p.T119A	p.T119A	NM_181745.3	NP_859529.2					1	411	+								Q495H1|Q5VY25|Q5VY26|Q7Z605|Q86SM7	Missense_Mutation	SNP	ENST00000371483.4	37	c.355A>G	CCDS31248.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.887611	0.33348	.	.	ENSG00000186188	ENST00000371481;ENST00000371483	T;T	0.72167	-0.63;-0.63	5.22	1.47	0.22746	GPCR, rhodopsin-like superfamily (1);	0.570043	0.18631	N	0.135599	T	0.50205	0.1602	N	0.21194	0.64	0.24740	N	0.993044	B;B	0.28128	0.073;0.201	B;B	0.21360	0.02;0.034	T	0.25813	-1.0121	10	0.16420	T	0.52	-10.6404	10.548	0.45070	0.4934:0.0:0.0:0.5066	.	119;119	Q5NUL3-2;Q5NUL3	.;O3FA1_HUMAN	A	119	ENSP00000360536:T119A;ENSP00000360538:T119A	ENSP00000360536:T119A	T	+	1	0	O3FAR1	95316822	0.979000	0.34478	0.888000	0.34837	0.961000	0.63080	1.317000	0.33631	0.079000	0.16929	0.459000	0.35465	ACC		0.687	FFAR4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083179.1	NM_181745		18	24	0	0	0	0.557998	0	18	24					G	95326832	A	G	95326832	3	3	56	1	0	0	0	0	1	0	0	0	6636	275	10	3	357	3	GPR120	10	95326832	Missense_Mutation	SNP	A	TCGA-DE-A0Y2-01A-11D-A10S-08	30359805	95326832	40207915	21	1328											
LPAR6	10161	broad.mit.edu	37	chr13	48985608	48985608	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attctctgcaccatgaacttCagagaatctgaagtcacttc	6	11	4	3			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr13:48985608C>T	ENST00000378434.4	-	7	2576	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K	RB1_ENST00000267163.4_Intron|LPAR6_ENST00000345941.2_Missense_Mutation_p.E318K	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	318						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						CCATGAACTTCAGAGAATCTG	0.343																																						ENST00000378434.4																			19	Whole gene deletion(15)|Unknown(4)	p.0?(15)|p.?(4)	bone(10)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(952-954)Gaa>Aaa		lysophosphatidic acid receptor 6							78	83	81					13																	48985608		2203	4300	6503	SO:0001583	missense	10161					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:48985608C>T	AF000546	CCDS9410.1	13q14	2012-08-08	2009-06-23	2009-06-23	ENSG00000139679	ENSG00000139679		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	15520	protein-coding gene	gene with protein product		609239	"purinergic receptor P2Y, G-protein coupled, 5"	P2RY5		11004484, 9755289, 19386608	Standard	NM_005767		Approved	P2Y5	uc010acu.3	P43657	OTTHUMG00000016895	ENST00000378434.4:c.952G>A	13.37:g.48985608C>T	ENSP00000367691:p.Glu318Lys					LPAR6_ENST00000345941.2_Missense_Mutation_p.E318K|RB1_ENST00000267163.4_Intron	p.E318K	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN			7	2576	-			318					A4FTW9|B3KVF2|F2YGU4|O15133|Q3KPF5|Q53FA0|Q5VW44|Q7Z3S0|Q7Z3S6	Missense_Mutation	SNP	ENST00000378434.4	37	c.952G>A	CCDS9410.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.196993	0.38806	.	.	ENSG00000139679	ENST00000378434;ENST00000345941	T;T	0.63580	-0.05;-0.05	5.46	5.46	0.80206	.	0.234774	0.41097	D	0.000958	T	0.39091	0.1065	N	0.08118	0	0.48087	D	0.999581	B	0.10296	0.003	B	0.08055	0.003	T	0.31668	-0.9935	10	0.09084	T	0.74	.	13.919	0.63919	0.0:0.9269:0.0:0.0731	.	318	P43657	LPAR6_HUMAN	K	318	ENSP00000367691:E318K;ENSP00000344353:E318K	ENSP00000344353:E318K	E	-	1	0	LPAR6	47883609	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	3.760000	0.55235	2.713000	0.92767	0.455000	0.32223	GAA		0.343	LPAR6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276280.2	NM_005767		66	87	0	0	0	0.870114	0	66	87					T	48985608	C	T	48985608	3	4	56	1	0	0	0	0	1	0	0	0	8909	835	29	2	86	2	LPAR6	13	48985608	Missense_Mutation	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08		48985608	66184270	22	1329											
TGDS	23483	broad.mit.edu	37	chr13	95248340	95248340	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccggtcaccaggacccgcttCgcaaagccgccgggaagacc	12	17	1	1			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr13:95248340C>T	ENST00000261296.5	-	1	171	c.51G>A	c.(49-51)gcG>gcA	p.A17A	TGDS_ENST00000498294.1_5'UTR	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	17					nucleotide-sugar metabolic process (GO:0009225)		coenzyme binding (GO:0050662)|dTDP-glucose 4,6-dehydratase activity (GO:0008460)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					GGACCCGCTTCGCAAAGCCGC	0.607																																						ENST00000261296.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(49-51)gcG>gcA		TDP-glucose 4,6-dehydratase							39	41	40					13																	95248340		2203	4300	6503	SO:0001819	synonymous_variant	23483				cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding	g.chr13:95248340C>T	AF048686	CCDS9471.1	13q32.1	2012-02-22			ENSG00000088451	ENSG00000088451	4.2.1.46	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	20324	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 2E, member 1"					19027726	Standard	NM_014305		Approved	TDPGD, SDR2E1	uc001vlw.3	O95455	OTTHUMG00000046308	ENST00000261296.5:c.51G>A	13.37:g.95248340C>T						TGDS_ENST00000498294.1_5'UTR	p.A17A	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN			1	171	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)		17					Q05DQ3|Q2TU31|Q5T3Z2|Q9H1T9	Silent	SNP	ENST00000261296.5	37	c.51G>A	CCDS9471.1																																																																																				0.607	TGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106904.2	NM_014305		23	25	0	0	0	0.717897	0	23	25					T	95248340	C	T	95248340	2	4	56	1	0	0	0	0	0	0	0	1	15811	871	31	1		1	TGDS	13	95248340	Silent	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08	46262732	95248340	19921538	23	1330											
POMT2	29954	broad.mit.edu	37	chr14	77778315	77778315	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcccaggggcgggtgcacatCaaagaaaaatgtacggttga	13	8	1	2			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr14:77778315C>G	ENST00000261534.4	-	2	512	c.310G>C	c.(310-312)Gat>Cat	p.D104H		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	104						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		GGGTGCACATCAAAGAAAAAT	0.433																																						ENST00000261534.4																			0				breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						c.(310-312)Gat>Cat		protein-O-mannosyltransferase 2							54	55	55					14																	77778315		2203	4300	6503	SO:0001583	missense	29954				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr14:77778315C>G	AF105020	CCDS9857.1	14q24	2014-09-17			ENSG00000009830	ENSG00000009830	2.4.1.109	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	19743	protein-coding gene	gene with protein product		607439				11162531, 12460945	Standard	NM_013382		Approved	LGMD2N	uc001xti.2	Q9UKY4	OTTHUMG00000171556	ENST00000261534.4:c.310G>C	14.37:g.77778315C>G	ENSP00000261534:p.Asp104His						p.D104H	NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)	2	512	-			104					Q9NSG6|Q9P1W0|Q9P1W2	Missense_Mutation	SNP	ENST00000261534.4	37	c.310G>C	CCDS9857.1	.	.	.	.	.	.	.	.	.	.	C	30	5.049709	0.93740	.	.	ENSG00000009830	ENST00000261534;ENST00000554948	D;D	0.88046	-2.33;-2.33	5.86	5.86	0.93980	Glycosyl transferase, family 39 (1);	0.000000	0.85682	D	0.000000	D	0.96346	0.8808	H	0.97465	4.01	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97249	0.9896	10	0.87932	D	0	-16.6486	19.7736	0.96383	0.0:1.0:0.0:0.0	.	104	Q9UKY4	POMT2_HUMAN	H	104;13	ENSP00000261534:D104H;ENSP00000452060:D13H	ENSP00000261534:D104H	D	-	1	0	POMT2	76848068	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.130000	0.77235	2.773000	0.95371	0.655000	0.94253	GAT		0.433	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414155.1	NM_013382		15	41	0	0	0	0.520397	0	15	41					G	77778315	C	G	77778315	3	3	56	1	0	0	0	0	1	0	0	0	12246	826	29	4	2022	4	POMT2	14	77778315	Missense_Mutation	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08		77778315	29571225	24	1331			1	6		2	2	53	C		5.711029e-05
POMT2	29954	broad.mit.edu	37	chr14	77778367	77778367	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccatttttccaaagtgagtCtcatcccaactaaaggaaac	5	12	1	1			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr14:77778367C>T	ENST00000261534.4	-	2	460	c.258G>A	c.(256-258)gaG>gaA	p.E86E		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	86						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		CAAAGTGAGTCTCATCCCAAC	0.373																																						ENST00000261534.4																			0				breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						c.(256-258)gaG>gaA		protein-O-mannosyltransferase 2							54	55	55					14																	77778367		2203	4300	6503	SO:0001819	synonymous_variant	29954				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr14:77778367C>T	AF105020	CCDS9857.1	14q24	2014-09-17			ENSG00000009830	ENSG00000009830	2.4.1.109	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	19743	protein-coding gene	gene with protein product		607439				11162531, 12460945	Standard	NM_013382		Approved	LGMD2N	uc001xti.2	Q9UKY4	OTTHUMG00000171556	ENST00000261534.4:c.258G>A	14.37:g.77778367C>T							p.E86E	NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)	2	460	-			86					Q9NSG6|Q9P1W0|Q9P1W2	Silent	SNP	ENST00000261534.4	37	c.258G>A	CCDS9857.1																																																																																				0.373	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414155.1	NM_013382		20	36	0	0	0	0.608945	0	20	36					T	77778367	C	T	77778367	2	4	56	1	0	0	0	0	0	0	0	1	12246	912	32	2		2	POMT2	14	77778367	Silent	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08	52	77778367	29571173	25	1332			1	6		2	2	53	C		5.711029e-05
ATP10A	57194	broad.mit.edu	37	chr15	26107935	26107935	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggccgggctggaaggcgttCaccgccggcacgaagttgag	17	11	1	1			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr15:26107935C>T	ENST00000356865.6	-	1	420	c.309G>A	c.(307-309)gtG>gtA	p.V103V	ATP10A_ENST00000553577.1_5'Flank|RP11-2C7.1_ENST00000557558.1_lincRNA	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	103					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|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)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGAAGGCGTTCACCGCCGGCA	0.652																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(307-309)gtG>gtA		ATPase, class V, type 10A							55	44	48					15																	26107935		2202	4298	6500	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:26107935C>T	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.309G>A	15.37:g.26107935C>T							p.V103V	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	1	420	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	103					Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.309G>A	CCDS32178.1																																																																																				0.652	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		6	14	0	0	0	0.307466	0	6	14					T	26107935	C	T	26107935	2	4	56	1	0	0	0	0	0	0	0	1	1116	813	29	2		2	ATP10A	15	26107935	Silent	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08		26107935	76423457	26	1333											
ZMYND15	84225	broad.mit.edu	37	chr17	4645341	4645341	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatgtgtgtcacaggcacaGctttgaagcgaagctgacac	11	11	1	2			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr17:4645341G>T	ENST00000433935.1	+	4	1016	c.959G>T	c.(958-960)aGc>aTc	p.S320I	ZMYND15_ENST00000269289.6_Missense_Mutation_p.S320I|ZMYND15_ENST00000592813.1_Missense_Mutation_p.S320I|CXCL16_ENST00000574412.1_5'Flank|ZMYND15_ENST00000573751.2_Missense_Mutation_p.S320I|CXCL16_ENST00000293778.6_5'Flank	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	320					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						CACAGGCACAGCTTTGAAGCG	0.592																																						ENST00000433935.1																			0				endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						c.(958-960)aGc>aTc		zinc finger, MYND-type containing 15							66	69	68					17																	4645341		2203	4300	6503	SO:0001583	missense	84225						zinc ion binding	g.chr17:4645341G>T	AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"Zinc fingers, MYND-type"	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.959G>T	17.37:g.4645341G>T	ENSP00000391742:p.Ser320Ile					ZMYND15_ENST00000592813.1_Missense_Mutation_p.S320I|ZMYND15_ENST00000573751.2_Missense_Mutation_p.S320I|ZMYND15_ENST00000269289.6_Missense_Mutation_p.S320I	p.S320I	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN			4	1016	+			320					B4DXY5|I3L296	Missense_Mutation	SNP	ENST00000433935.1	37	c.959G>T	CCDS45584.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785924	0.70337	.	.	ENSG00000141497	ENST00000433935;ENST00000269289	T;T	0.47528	0.87;0.84	5.15	5.15	0.70609	Zinc finger, MYND-type (2);	0.000000	0.85682	D	0.000000	T	0.59649	0.2209	L	0.38175	1.15	0.37939	D	0.932253	D;D	0.76494	0.999;0.998	D;D	0.87578	0.998;0.993	T	0.62845	-0.6768	10	0.51188	T	0.08	-21.1645	16.1812	0.81903	0.0:0.0:1.0:0.0	.	320;320	B4DXY5;Q9H091	.;ZMY15_HUMAN	I	320	ENSP00000391742:S320I;ENSP00000269289:S320I	ENSP00000269289:S320I	S	+	2	0	ZMYND15	4592090	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.704000	0.54815	2.677000	0.91161	0.563000	0.77884	AGC		0.592	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439580.1	NM_032265		4	197	1	0	0.0293803	0.248553	0.0349766	4	197					T	4645341	G	T	4645341	3	4	56	1	0	0	0	0	1	0	0	0	17705	971	34	4	969	4	ZMYND15	17	4645341	Missense_Mutation	SNP	G	TCGA-DE-A0Y2-01A-11D-A10S-08		4645341	76549869	27	1334											
VAPA	9218	broad.mit.edu	37	chr18	9950521	9950521	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggaagagtgtaaaagacttCagggagaaatgatgaagcta	13	3	1	5			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr18:9950521C>T	ENST00000400000.2	+	5	802	c.547C>T	c.(547-549)Cag>Tag	p.Q183*	VAPA_ENST00000340541.4_Nonsense_Mutation_p.Q228*|VAPA_ENST00000584796.1_3'UTR	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	Q9P0L0	VAPA_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa	183					cell death (GO:0008219)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein localization to endoplasmic reticulum (GO:0070972)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein heterodimerization activity (GO:0046982)|signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(1)|lung(2)|prostate(1)	4						TAAAAGACTTCAGGGAGAAAT	0.378																																						ENST00000400000.2																			0				breast(1)|lung(2)|prostate(1)	4						c.(547-549)Cag>Tag		VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa							94	82	86					18																	9950521		1853	4092	5945	SO:0001587	stop_gained	9218				cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity	g.chr18:9950521C>T		CCDS11847.2, CCDS11848.2	18p11.2	2008-07-28	2002-08-29		ENSG00000101558	ENSG00000101558			12648	protein-coding gene	gene with protein product		605703	"VAMP (vesicle-associated membrane protein)-associated protein A (33kD)"			9920726, 9657962	Standard	NM_003574		Approved	hVAP-33, VAP-A	uc002koj.3	Q9P0L0	OTTHUMG00000131603	ENST00000400000.2:c.547C>T	18.37:g.9950521C>T	ENSP00000382880:p.Gln183*					VAPA_ENST00000340541.4_Nonsense_Mutation_p.Q228*|VAPA_ENST00000584796.1_3'UTR	p.Q183*	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	Q9P0L0	VAPA_HUMAN			5	802	+			183					A6NDZ0|D3DUI3|O75453|Q5U0E7|Q9UBZ2	Nonsense_Mutation	SNP	ENST00000400000.2	37	c.547C>T	CCDS11848.2	.	.	.	.	.	.	.	.	.	.	C	38	6.886032	0.97912	.	.	ENSG00000101558	ENST00000340541;ENST00000400000	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.0496	20.1272	0.97986	0.0:1.0:0.0:0.0	.	.	.	.	X	228;183	.	.	Q	+	1	0	VAPA	9940521	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.499000	0.73683	2.828000	0.97474	0.655000	0.94253	CAG		0.378	VAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254490.1			47	41	0	0	0	0.870114	0	47	41					T	9950521	C	T	9950521	4	4	56	1	0	0	0	0	0	1	0	0	17118	827	29	2	704	2	VAPA	18	9950521	Nonsense_Mutation	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08		9950521	68126727	28	1335											
RPRD1A	55197	broad.mit.edu	37	chr18	33606928	33606928	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagaaaatctgctaacattcGagtgagttgctttctatcat	7	7	3	2			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr18:33606928G>A	ENST00000399022.4	-	6	895	c.724C>T	c.(724-726)Cga>Tga	p.R242*	RPRD1A_ENST00000590898.1_Nonsense_Mutation_p.R206*|RPRD1A_ENST00000337059.5_Nonsense_Mutation_p.R206*|RPRD1A_ENST00000319040.6_Nonsense_Mutation_p.R242*|RPRD1A_ENST00000357384.4_Nonsense_Mutation_p.R242*|RPRD1A_ENST00000588737.1_Nonsense_Mutation_p.R206*	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	242					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)		p.R242R(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						GCTAACATTCGAGTGAGTTGC	0.403																																						ENST00000399022.4																			1	Substitution - coding silent(1)	p.R242R(1)	urinary_tract(1)	NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						c.(724-726)Cga>Tga		regulation of nuclear pre-mRNA domain containing 1A							81	78	79					18																	33606928		2203	4300	6503	SO:0001587	stop_gained	55197							g.chr18:33606928G>A	AF419845	CCDS11917.1	18q12.2	2012-02-09	2008-08-15		ENSG00000141425	ENSG00000141425			25560	protein-coding gene	gene with protein product	"cyclin-dependent kinase 2B-inhibitor-related protein", "Cyclin-dependent kinase inhibitor 2B-related protein (p15INK4B-related protein)"	610347				12470661, 22231121	Standard	NM_018170		Approved	P15RS, FLJ10656, HsT3101	uc002kzg.3	Q96P16	OTTHUMG00000132591	ENST00000399022.4:c.724C>T	18.37:g.33606928G>A	ENSP00000381984:p.Arg242*					RPRD1A_ENST00000590898.1_Nonsense_Mutation_p.R206*|RPRD1A_ENST00000357384.4_Nonsense_Mutation_p.R242*|RPRD1A_ENST00000588737.1_Nonsense_Mutation_p.R206*|RPRD1A_ENST00000319040.6_Nonsense_Mutation_p.R242*|RPRD1A_ENST00000337059.5_Nonsense_Mutation_p.R206*	p.R242*	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN			6	895	-			242					A8KA42|B2RBA3|Q7Z5G8|Q96FY9|Q9NVL4	Nonsense_Mutation	SNP	ENST00000399022.4	37	c.724C>T	CCDS11917.1	.	.	.	.	.	.	.	.	.	.	G	37	6.297262	0.97453	.	.	ENSG00000141425	ENST00000399022;ENST00000357384;ENST00000337059;ENST00000319040	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1272	16.6336	0.85040	0.0:0.0:1.0:0.0	.	.	.	.	X	242;242;206;242	.	ENSP00000314602:R242X	R	-	1	2	RPRD1A	31860926	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.788000	0.85771	2.583000	0.87209	0.650000	0.86243	CGA		0.403	RPRD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255802.1	NM_018170		6	98	0	0	0	0.217242	0	6	98					A	33606928	G	A	33606928	4	1	56	1	0	0	0	0	0	1	0	0	13615	1066	37	1	222	1	RPRD1A	18	33606928	Nonsense_Mutation	SNP	G	TCGA-DE-A0Y2-01A-11D-A10S-08	23656407	33606928	44470320	29	1336											
S1PR5	53637	broad.mit.edu	37	chr19	10625003	10625003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtccccgcagtcccgggccGtgccggcaggcgccgcgcgt	17	18	0	0			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr19:10625003G>A	ENST00000439028.3	-	2	810	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W	S1PR5_ENST00000333430.4_Missense_Mutation_p.R229W	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	229					regulation of neuron differentiation (GO:0045664)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12					Fingolimod(DB08868)	GTCCCGGGCCGTGCCGGCAGG	0.716																																						ENST00000439028.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12						c.(685-687)Cgg>Tgg		sphingosine-1-phosphate receptor 5							6	7	7					19																	10625003		2075	4058	6133	SO:0001583	missense	53637					integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:10625003G>A	AK074661	CCDS12240.1	19p13.2	2012-08-08	2008-04-30	2008-04-30		ENSG00000180739		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	14299	protein-coding gene	gene with protein product		605146	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 8"	EDG8		10799507	Standard	NM_030760		Approved	Edg-8	uc002mou.2	Q9H228		ENST00000439028.3:c.685C>T	19.37:g.10625003G>A	ENSP00000416915:p.Arg229Trp					S1PR5_ENST00000333430.4_Missense_Mutation_p.R229W	p.R229W	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN			2	810	-			229					Q6NW11	Missense_Mutation	SNP	ENST00000439028.3	37	c.685C>T	CCDS12240.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.377125	0.24944	.	.	ENSG00000180739	ENST00000439028;ENST00000333430	T;T	0.72725	-0.68;-0.68	2.05	2.05	0.26809	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.69735	0.3144	M	0.62723	1.935	0.09310	N	1	D	0.61697	0.99	P	0.48141	0.568	T	0.61217	-0.7107	9	0.87932	D	0	.	7.6273	0.28220	0.0:0.0:1.0:0.0	.	229	Q9H228	S1PR5_HUMAN	W	229	ENSP00000416915:R229W;ENSP00000328472:R229W	ENSP00000328472:R229W	R	-	1	2	S1PR5	10486003	0.000000	0.05858	0.017000	0.16124	0.002000	0.02628	-0.083000	0.11286	1.447000	0.47661	0.491000	0.48974	CGG		0.716	S1PR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452015.1	NM_030760		2	1	0	0	0	0.115264	0	2	1					A	10625003	G	A	10625003	3	1	56	1	0	0	0	0	1	0	0	0	13797	1144	40	1	515	1	S1PR5	19	10625003	Missense_Mutation	SNP	G	TCGA-DE-A0Y2-01A-11D-A10S-08		10625003	48503980	30	1337											
DOCK6	57572	broad.mit.edu	37	chr19	11333436	11333436	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggtggtggaggacacagagGgggagggcgaggctggaggt	24	4	0	1			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr19:11333436G>C	ENST00000294618.7	-	26	3226	c.3215C>G	c.(3214-3216)cCc>cGc	p.P1072R	DOCK6_ENST00000319867.7_Missense_Mutation_p.P411R	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1072					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GGACACAGAGGGGGAGGGCGA	0.612																																						ENST00000294618.7																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						c.(3214-3216)cCc>cGc		dedicator of cytokinesis 6							24	32	29					19																	11333436		2157	4258	6415	SO:0001583	missense	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11333436G>C		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.3215C>G	19.37:g.11333436G>C	ENSP00000294618:p.Pro1072Arg					DOCK6_ENST00000319867.7_Missense_Mutation_p.P411R	p.P1072R	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN			26	3226	-			1072					A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	c.3215C>G	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.356231	0.82243	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.25414	1.8;1.8	5.05	5.05	0.67936	.	0.064525	0.64402	D	0.000006	T	0.55561	0.1928	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.80764	0.994;0.889	T	0.62618	-0.6816	10	0.72032	D	0.01	-30.5412	17.1588	0.86798	0.0:0.0:1.0:0.0	.	411;1072	C9IZV6;Q96HP0	.;DOCK6_HUMAN	R	1072;411	ENSP00000294618:P1072R;ENSP00000321556:P411R	ENSP00000294618:P1072R	P	-	2	0	DOCK6	11194436	1.000000	0.71417	0.971000	0.41717	0.808000	0.45660	9.173000	0.94815	2.347000	0.79759	0.491000	0.48974	CCC		0.612	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		3	3	0	0	0	0.150653	0	3	3					C	11333436	G	C	11333436	3	2	56	1	0	0	0	0	1	0	0	0	4691	1232	43	4	3020	4	DOCK6	19	11333436	Missense_Mutation	SNP	G	TCGA-DE-A0Y2-01A-11D-A10S-08	708433	11333436	47795547	31	1338											
ZNF564	163050	broad.mit.edu	37	chr19	12637690	12637690	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctccagtgtgagttctttcgTgtatttgaaatgaactggga	11	6	1	3			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr19:12637690T>A	ENST00000339282.7	-	4	1428	c.1232A>T	c.(1231-1233)cAc>cTc	p.H411L	CTD-2192J16.21_ENST00000601420.1_RNA|CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	411					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(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						AGTTCTTTCGTGTATTTGAAA	0.408																																						ENST00000339282.7																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(1231-1233)cAc>cTc		zinc finger protein 564							133	139	137					19																	12637690		2201	4300	6501	SO:0001583	missense	163050							g.chr19:12637690T>A	BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"Zinc fingers, C2H2-type", "-"	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.1232A>T	19.37:g.12637690T>A	ENSP00000340004:p.His411Leu					CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	p.H411L	NM_144976.3	NP_659413.1					4	1428	-								B9EGT4|Q6P1K6	Missense_Mutation	SNP	ENST00000339282.7	37	c.1232A>T	CCDS42505.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.712696	0.89112	.	.	ENSG00000249709	ENST00000339282	D	0.86865	-2.18	1.96	1.96	0.26148	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95143	0.8426	H	0.98068	4.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94489	0.7700	9	0.87932	D	0	.	9.2196	0.37368	0.0:0.0:0.0:1.0	.	411	Q8TBZ8	ZN564_HUMAN	L	411	ENSP00000340004:H411L	ENSP00000340004:H411L	H	-	2	0	ZNF564	12498690	1.000000	0.71417	0.015000	0.15790	0.967000	0.64934	6.234000	0.72326	1.167000	0.42706	0.523000	0.50628	CAC		0.408	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2	NM_144976		26	246	0	0	0	0.681144	0	26	246					A	12637690	T	A	12637690	3	1	56	1	0	0	0	0	1	0	0	0	17992	1696	59	5	433	5	ZNF564	19	12637690	Missense_Mutation	SNP	T	TCGA-DE-A0Y2-01A-11D-A10S-08	1304254	12637690	46491293	32	1339											
SPIB	6689	broad.mit.edu	37	chr19	50931366	50931366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggggacatgcgtgagtgcGtgtggtgggtggagccaggc	22	7	0	1			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr19:50931366G>A	ENST00000595883.1	+	6	587	c.562G>A	c.(562-564)Gtg>Atg	p.V188M	SPIB_ENST00000597855.1_3'UTR|SPIB_ENST00000596074.1_3'UTR|CTD-2545M3.6_ENST00000599632.1_Missense_Mutation_p.R322H|SPIB_ENST00000439922.2_Missense_Mutation_p.V97M|SPIB_ENST00000270632.7_3'UTR	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	188					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GCGTGAGTGCGTGTGGTGGGT	0.682																																						ENST00000595883.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14						c.(562-564)Gtg>Atg		Spi-B transcription factor (Spi-1/PU.1 related)							24	30	28					19																	50931366		2189	4284	6473	SO:0001583	missense	6689				regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding	g.chr19:50931366G>A		CCDS33080.1, CCDS58674.1, CCDS59412.1	19q13.3-q13.4	2008-07-22				ENSG00000269404			11242	protein-coding gene	gene with protein product		606802				1406622	Standard	NM_003121		Approved	SPI-B	uc002psd.3	Q01892		ENST00000595883.1:c.562G>A	19.37:g.50931366G>A	ENSP00000471921:p.Val188Met					SPIB_ENST00000597855.1_3'UTR|SPIB_ENST00000596074.1_3'UTR|SPIB_ENST00000270632.7_3'UTR|SPIB_ENST00000439922.2_Missense_Mutation_p.V97M	p.V188M	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	6	587	+		all_neural(266;0.131)	188					A8K9C9|B4DUG6|Q15359	Missense_Mutation	SNP	ENST00000595883.1	37	c.562G>A	CCDS33080.1	.	.	.	.	.	.	.	.	.	.	.	20.3	3.970356	0.74246	.	.	ENSG00000142539	ENST00000270632;ENST00000439922	T	0.26810	1.71	4.08	4.08	0.47627	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (3);	0.153067	0.29624	N	0.011640	T	0.35038	0.0918	L	0.29908	0.895	0.38694	D	0.952836	D;D	0.89917	1.0;1.0	D;D	0.75484	0.969;0.986	T	0.22591	-1.0212	10	0.87932	D	0	-6.0279	9.4174	0.38530	0.1013:0.0:0.8986:0.0	.	97;188	B4DUG6;Q01892	.;SPIB_HUMAN	M	188;97	ENSP00000391877:V97M	ENSP00000270632:V188M	V	+	1	0	SPIB	55623178	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.183000	0.42565	2.267000	0.75376	0.561000	0.74099	GTG		0.682	SPIB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464744.1	NM_003121		3	3	0	0	0	0.184627	0	3	3					A	50931366	G	A	50931366	3	1	56	1	0	0	0	0	1	0	0	0	15049	1145	40	1	584	1	SPIB	19	50931366	Missense_Mutation	SNP	G	TCGA-DE-A0Y2-01A-11D-A10S-08	38293676	50931366	8197617	33	1340											
NLRP9	338321	broad.mit.edu	37	chr19	56249479	56249479	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acttctcatctcttcctgagCctttgtccagagatctttcc	5	14	3	2			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr19:56249479C>A	ENST00000332836.2	-	1	289	c.262G>T	c.(262-264)Gct>Tct	p.A88S	RN7SKP109_ENST00000410592.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	88	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TCTTCCTGAGCCTTTGTCCAG	0.498																																						ENST00000332836.2																			0				NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74						c.(262-264)Gct>Tct		NLR family, pyrin domain containing 9							490	488	488					19																	56249479		2203	4300	6503	SO:0001583	missense	338321					cytoplasm	ATP binding	g.chr19:56249479C>A	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22941	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"	609663	"NACHT, leucine rich repeat and PYD containing 9"	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.262G>T	19.37:g.56249479C>A	ENSP00000331857:p.Ala88Ser						p.A88S	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	1	289	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	88			DAPIN.		B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	c.262G>T	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940708	0.73557	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.52295	0.67	3.41	3.41	0.39046	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.69691	0.3139	M	0.87617	2.895	0.09310	N	1	D	0.76494	0.999	D	0.75020	0.985	T	0.58423	-0.7639	9	0.59425	D	0.04	.	10.6867	0.45848	0.0:1.0:0.0:0.0	.	88	Q7RTR0	NALP9_HUMAN	S	88	ENSP00000331857:A88S	ENSP00000331857:A88S	A	-	1	0	NLRP9	60941291	0.100000	0.21855	0.134000	0.22075	0.734000	0.41952	1.206000	0.32321	2.246000	0.74042	0.650000	0.86243	GCT		0.498	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		13	1080	1	0	0.00136819	0.411799	0.00166853	13	1080					A	56249479	C	A	56249479	3	1	56	1	0	0	0	0	1	0	0	0	10484	739	26	4	2749	4	NLRP9	19	56249479	Missense_Mutation	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08	5318113	56249479	2879504	34	1341											
MTX1	4580	broad.mit.edu	37	chr1	155178692	155178695	+	Frame_Shift_Del	DEL	CAGA	CAGA	-													tgcagtttggcaagagccccCagacctggcccaggcgcaca							TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr1:155178692_155178695delCAGA	ENST00000368376.3	+	1	203_206	c.97_100delCAGA	c.(97-102)cagaccfs	p.QT33fs	THBS3_ENST00000457183.2_5'Flank|MTX1_ENST00000609421.1_5'Flank|THBS3_ENST00000486260.1_Splice_Site|RP11-263K19.6_ENST00000455788.1_RNA|THBS3_ENST00000541990.1_5'Flank|MTX1_ENST00000316721.4_Frame_Shift_Del_p.QT33fs|THBS3_ENST00000368378.3_5'Flank	NM_002455.3	NP_002446.2	Q13505	MTX1_HUMAN	metaxin 1	33					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CAAGAGCCCCCAGACCTGGCCCAG	0.711																																						ENST00000368376.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7						c.(97-102)ccfs		metaxin 1																																				SO:0001589	frameshift_variant	4580				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	protein binding	g.chr1:155178692_155178695delCAGA		CCDS1100.1, CCDS1101.1	1q21	2008-07-18			ENSG00000173171	ENSG00000173171			7504	protein-coding gene	gene with protein product		600605		MTX		7753840	Standard	XM_006711338		Approved	MTXN	uc001fjb.3	Q13505	OTTHUMG00000035708	ENST00000368376.3:c.97_100delCAGA	1.37:g.155178692_155178695delCAGA	ENSP00000357360:p.Gln33fs					MTX1_ENST00000316721.4_Frame_Shift_Del_p.QT33fs	p.QT33fs	NM_002455.3	NP_002446.2	Q13505	MTX1_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		1	203_206	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		33					B1AVR9|B1AVS0|B2R9P4|Q9BUU3	Frame_Shift_Del	DEL	ENST00000368376.3	37	c.97_100delCAGA	CCDS1100.1																																																																																				0.711	MTX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086844.1	NM_198883		12	32						12	32	---	---	---	---	-	155178695	CAGA	-	155178692	7	5	57	1	0	1	0	1	0	0	0	0	9967	595	21	0	99	0	MTX1	1	155178692	Frame_Shift_Del	DEL	CAGA	TCGA-DE-A0Y3-01B-11D-A10S-08		155178692	94071929	1	1342											
TREX1	11277	broad.mit.edu	37	chr3	48508560	48508560	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggagcgagcaagcagcccctCagaacacggcccaaggaaga	13	13	1	2			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr3:48508560C>G	ENST00000422277.2	+	1	1332	c.671C>G	c.(670-672)tCa>tGa	p.S224*	TREX1_ENST00000456089.1_Nonsense_Mutation_p.S30*|TREX1_ENST00000444177.1_Nonsense_Mutation_p.S159*|TREX1_ENST00000492235.1_3'UTR|TREX1_ENST00000436480.2_Nonsense_Mutation_p.S169*|TREX1_ENST00000433541.1_Nonsense_Mutation_p.S30*|TREX1_ENST00000296443.9_Nonsense_Mutation_p.S169*|SHISA5_ENST00000465449.1_5'Flank	NM_016381.4	NP_057465.1	Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	224					cell death (GO:0008219)|cellular response to interferon-beta (GO:0035458)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|innate immune response (GO:0045087)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	endoplasmic reticulum membrane (GO:0005789)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|3'-5'-exodeoxyribonuclease activity (GO:0008296)|adenyl deoxyribonucleotide binding (GO:0032558)|double-stranded DNA binding (GO:0003690)|exodeoxyribonuclease III activity (GO:0008853)|metal ion binding (GO:0046872)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein homodimerization activity (GO:0042803)|single-stranded DNA binding (GO:0003697)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		AGCAGCCCCTCAGAACACGGC	0.612																																						ENST00000296443.9																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9						c.(505-507)tCa>tGa		three prime repair exonuclease 1							64	67	66					3																	48508560		2203	4300	6503	SO:0001587	stop_gained	11277				cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding	g.chr3:48508560C>G	AF151105	CCDS2769.1, CCDS59451.1	3p21.31	2014-09-17			ENSG00000213689	ENSG00000213689			12269	protein-coding gene	gene with protein product		606609	"Aicardi-Goutieres syndrome 1"	AGS1		10391904, 10393201, 16845398	Standard	NM_033629		Approved	DRN3	uc010hka.4	Q9NSU2	OTTHUMG00000156205	ENST00000422277.2:c.671C>G	3.37:g.48508560C>G	ENSP00000390478:p.Ser224*					TREX1_ENST00000422277.2_Nonsense_Mutation_p.S224*|TREX1_ENST00000433541.1_Nonsense_Mutation_p.S30*|TREX1_ENST00000436480.2_Nonsense_Mutation_p.S169*|TREX1_ENST00000444177.1_Nonsense_Mutation_p.S159*|TREX1_ENST00000492235.1_3'UTR|TREX1_ENST00000456089.1_Nonsense_Mutation_p.S30*	p.S169*			Q9NSU2	TREX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	3	1393	+			224		R -> H (in AGS1 and systemic lupus erythematosus).			B2RCN9|Q8TEU2|Q9BPW1|Q9Y4X2	Nonsense_Mutation	SNP	ENST00000422277.2	37	c.506C>G	CCDS43086.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.717540	0.30413	.	.	ENSG00000213689	ENST00000296443;ENST00000433541;ENST00000436480;ENST00000422277;ENST00000444177;ENST00000456089	.	.	.	4.99	2.02	0.26589	.	1.225480	0.06309	U	0.702278	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	4.2831	0.10841	0.1464:0.4812:0.2856:0.0868	.	.	.	.	X	169;30;169;224;159;30	.	ENSP00000296443:S169X	S	+	2	0	TREX1	48483564	0.000000	0.05858	0.358000	0.25811	0.013000	0.08279	0.163000	0.16520	1.076000	0.40961	-0.165000	0.13383	TCA		0.612	TREX1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_016381		3	99	0	0	0	0.004672	0	3	99					G	48508560	C	G	48508560	4	3	57	1	0	0	0	0	0	1	0	0	16473	838	29	4	673	4	TREX1	3	48508560	Nonsense_Mutation	SNP	C	TCGA-DE-A0Y3-01B-11D-A10S-08		48508560	149513870	2	1343											
SLC6A18	348932	broad.mit.edu	37	chr5	1232375	1232375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcgcgctggtcttcgagGggatccccattttccacgtc	10	14	2	0			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr5:1232375G>A	ENST00000324642.3	+	2	325	c.202G>A	c.(202-204)Ggg>Agg	p.G68R	SLC6A18_ENST00000296821.4_Missense_Mutation_p.G68R	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	68					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGTCTTCGAGGGGATCCCCAT	0.687																																						ENST00000324642.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34						c.(202-204)Ggg>Agg		solute carrier family 6 (neutral amino acid transporter), member 18							46	46	46					5																	1232375		2202	4300	6502	SO:0001583	missense	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1232375G>A	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"Solute carriers"	26441	protein-coding gene	gene with protein product		610300	"solute carrier family 6 (neurotransmitter transporter), member 18", "solute carrier family 6, member 18"			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.202G>A	5.37:g.1232375G>A	ENSP00000323549:p.Gly68Arg					SLC6A18_ENST00000296821.4_Missense_Mutation_p.G68R	p.G68R	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		2	325	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		68						Missense_Mutation	SNP	ENST00000324642.3	37	c.202G>A	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969206	0.74246	.	.	ENSG00000164363	ENST00000324642;ENST00000296821	D;D	0.87729	-2.29;-2.29	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.95921	0.8672	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97235	0.9887	10	0.87932	D	0	.	17.0443	0.86498	0.0:0.0:1.0:0.0	.	68	Q96N87	S6A18_HUMAN	R	68	ENSP00000323549:G68R;ENSP00000296821:G68R	ENSP00000296821:G68R	G	+	1	0	SLC6A18	1285375	1.000000	0.71417	1.000000	0.80357	0.040000	0.13550	8.757000	0.91657	2.560000	0.86352	0.491000	0.48974	GGG		0.687	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		20	16	0	0	0	0.099896	0	20	16					A	1232375	G	A	1232375	3	1	57	1	0	0	0	0	1	0	0	0	14681	1232	43	2	208	2	SLC6A18	5	1232375	Missense_Mutation	SNP	G	TCGA-DE-A0Y3-01B-11D-A10S-08		1232375	179682885	3	1344											
SLC6A3	6531	broad.mit.edu	37	chr5	1443103	1443103	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gcaaagccaatgacggacagGagaaagtcgatcttcttgcc	11	10	2	2			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr5:1443103G>C	ENST00000270349.9	-	2	337	c.210C>G	c.(208-210)ctC>ctG	p.L70L	SLC6A3_ENST00000453492.2_Silent_p.L70L	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	70					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TGACGGACAGGAGAAAGTCGA	0.612																																						ENST00000270349.9																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(208-210)ctC>ctG		solute carrier family 6 (neurotransmitter transporter), member 3	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						110	97	101					5																	1443103		2203	4300	6503	SO:0001819	synonymous_variant	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1443103G>C		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"Solute carriers"	11049	protein-coding gene	gene with protein product	"dopamine transporter"	126455	"solute carrier family 6 (neurotransmitter transporter, dopamine), member 3", "dopamine transporter 1"	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.210C>G	5.37:g.1443103G>C						SLC6A3_ENST00000453492.2_Silent_p.L70L	p.L70L	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		2	337	-			70					A2RUN4|Q14996	Silent	SNP	ENST00000270349.9	37	c.210C>G	CCDS3863.1																																																																																				0.612	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		4	121	0	0	0	0.009096	0	4	121					C	1443103	G	C	1443103	2	2	57	1	0	0	0	0	0	0	0	1	14685	1161	41	4		4	SLC6A3	5	1443103	Silent	SNP	G	TCGA-DE-A0Y3-01B-11D-A10S-08	210728	1443103	179472157	4	1345											
DNAJC21	134218	broad.mit.edu	37	chr5	34954066	34954066	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaaagaaaaccaaagataTgaaaaaacctgtcagagtac	8	6	1	4	rs200823175		TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr5:34954066T>C	ENST00000342382.4	+	11	1621	c.1394T>C	c.(1393-1395)aTg>aCg	p.M465T	DNAJC21_ENST00000303525.7_Missense_Mutation_p.M478T|DNAJC21_ENST00000382021.2_Missense_Mutation_p.M510T			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	465					protein folding (GO:0006457)	ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			ACCAAAGATATGAAAAAACCT	0.318													C|||	1	0.000199681	0	0.0014	5008	,	,		17048	0		0	False		,,,				2504	0					ENST00000382021.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1528-1530)aTg>aCg		DnaJ (Hsp40) homolog, subfamily C, member 21							101	109	106					5																	34954066		2203	4300	6503	SO:0001583	missense	134218				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding	g.chr5:34954066T>C		CCDS3907.2, CCDS34144.1	5p13-p12	2012-10-05			ENSG00000168724	ENSG00000168724		"Heat shock proteins / DNAJ (HSP40)"	27030	protein-coding gene	gene with protein product	"JJJ1 DnaJ domain protein homolog (S. cerevisiae)"					15067379	Standard	XM_005248250		Approved	GS3, DNAJA5, JJJ1	uc003jjc.3	Q5F1R6	OTTHUMG00000074103	ENST00000342382.4:c.1394T>C	5.37:g.34954066T>C	ENSP00000343728:p.Met465Thr					DNAJC21_ENST00000342382.4_Missense_Mutation_p.M465T|DNAJC21_ENST00000303525.7_Missense_Mutation_p.M478T	p.M510T	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		12	1756	+	all_lung(31;7.08e-05)		465					Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Missense_Mutation	SNP	ENST00000342382.4	37	c.1529T>C	CCDS34144.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	0.279	-0.987382	0.02180	.	.	ENSG00000168724	ENST00000342382;ENST00000382021;ENST00000303525	T;T;T	0.39787	1.08;1.07;1.06	5.81	-11.6	0.00059	.	2.389020	0.00921	N	0.002592	T	0.23094	0.0558	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.14254	-1.0479	10	0.13108	T	0.6	4.5532	15.4284	0.75072	0.0:0.6399:0.0744:0.2856	.	478;465;510	Q5F1R6-3;Q5F1R6;Q5F1R6-2	.;DJC21_HUMAN;.	T	465;510;478	ENSP00000343728:M465T;ENSP00000371451:M510T;ENSP00000306289:M478T	ENSP00000306289:M478T	M	+	2	0	DNAJC21	34989823	0.000000	0.05858	0.000000	0.03702	0.314000	0.28054	-3.046000	0.00630	-2.414000	0.00569	-2.332000	0.00249	ATG		0.318	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157337.1	NM_194283		4	127	0	0	0	0.014758	0	4	127					C	34954066	T	C	34954066	3	2	57	1	0	0	0	0	1	0	0	0	4640	1464	51	3	1575	3	DNAJC21	5	34954066	Missense_Mutation	SNP	T	TCGA-DE-A0Y3-01B-11D-A10S-08	33510963	34954066	145961194	5	1346											
PCSK1	5122	broad.mit.edu	37	chr5	95748058	95748058	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaaagccttctgggctagCcggccaggcccctccacagt	10	16	2	0			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr5:95748058C>T	ENST00000311106.3	-	7	1083	c.846G>A	c.(844-846)cgG>cgA	p.R282R	PCSK1_ENST00000513085.1_5'UTR|PCSK1_ENST00000508626.1_Silent_p.R235R|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	282	Peptidase S8.				cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TCTGGGCTAGCCGGCCAGGCC	0.478																																						ENST00000311106.3																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36						c.(844-846)cgG>cgA		proprotein convertase subtilisin/kexin type 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						101	104	103					5																	95748058		2203	4300	6503	SO:0001819	synonymous_variant	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95748058C>T		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"prohormone convertase 3", "prohormone convertase 1", "neuroendocrine convertase 1", "proprotein convertase 1"	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.846G>A	5.37:g.95748058C>T						PCSK1_ENST00000513085.1_5'UTR|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Silent_p.R235R	p.R282R	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	7	1083	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	282			Catalytic.		B7Z8T7|E9PHA1|P78478|Q92532	Silent	SNP	ENST00000311106.3	37	c.846G>A	CCDS4081.1																																																																																				0.478	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		4	127	0	0	0	0.014758	0	4	127					T	95748058	C	T	95748058	2	4	57	1	0	0	0	0	0	0	0	1	11600	726	26	2		2	PCSK1	5	95748058	Silent	SNP	C	TCGA-DE-A0Y3-01B-11D-A10S-08	60793992	95748058	85167202	6	1347											
FNIP1	96459	broad.mit.edu	37	chr5	131008166	131008166	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaacatcaacagcattttcTtcttggcagtcagaaggaga	8	8	4	2			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr5:131008166T>C	ENST00000510461.1	-	14	2066	c.1971A>G	c.(1969-1971)gaA>gaG	p.E657E	FNIP1_ENST00000307954.8_Silent_p.E612E|FNIP1_ENST00000307968.7_Silent_p.E629E|CTC-432M15.3_ENST00000514667.1_Intron	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	657					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		CAGCATTTTCTTCTTGGCAGT	0.393																																						ENST00000307968.7																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1885-1887)gaA>gaG		folliculin interacting protein 1							125	128	127					5																	131008166		2203	4300	6503	SO:0001819	synonymous_variant	96459							g.chr5:131008166T>C	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.1971A>G	5.37:g.131008166T>C						FNIP1_ENST00000307954.8_Silent_p.E612E|FNIP1_ENST00000510461.1_Silent_p.E657E|FNIP1_ENST00000514667.1_Intron	p.E629E	NM_001008738.2	NP_001008738.2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	13	1886	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)						D6RJH5|Q86T47|Q9BUT0	Silent	SNP	ENST00000510461.1	37	c.1887A>G	CCDS34227.1																																																																																				0.393	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		11	323	0	0	0	0.069234	0	11	323					C	131008166	T	C	131008166	2	2	57	1	0	0	0	0	0	0	0	1	5975	1606	56	3		3	FNIP1	5	131008166	Silent	SNP	T	TCGA-DE-A0Y3-01B-11D-A10S-08	35260108	131008166	49907094	7	1348											
MATR3	9782	broad.mit.edu	37	chr5	138643134	138643134	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcattccagcagtcatctctCagtagggactcacagggtca	9	12	6	0			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr5:138643134C>T	ENST00000394805.3	+	2	365	c.30C>T	c.(28-30)ctC>ctT	p.L10L	MATR3_ENST00000509990.1_Silent_p.L10L|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000502929.1_Silent_p.L10L|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000394800.2_Silent_p.L10L|MATR3_ENST00000510056.1_Silent_p.L10L|MATR3_ENST00000361059.2_Silent_p.L10L	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	10					cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGTCATCTCTCAGTAGGGACT	0.428																																						ENST00000394800.2																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(28-30)ctC>ctT		matrin 3							106	105	105					5																	138643134		2203	4300	6503	SO:0001819	synonymous_variant	9782					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding	g.chr5:138643134C>T	M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"myopathy, distal 2"	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.30C>T	5.37:g.138643134C>T						MATR3_ENST00000502499.1_Intron|MATR3_ENST00000510056.1_Silent_p.L10L|MATR3_ENST00000509990.1_Silent_p.L10L|MATR3_ENST00000394805.3_Silent_p.L10L|MATR3_ENST00000361059.2_Silent_p.L10L|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000502929.1_Silent_p.L10L	p.L10L			P43243	MATR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		6	579	+			10					B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Silent	SNP	ENST00000394805.3	37	c.30C>T	CCDS4210.1																																																																																				0.428	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	NM_018834		8	193	0	0	0	0.038147	0	8	193					T	138643134	C	T	138643134	2	4	57	1	0	0	0	0	0	0	0	1	9337	813	29	2		2	MATR3	5	138643134	Silent	SNP	C	TCGA-DE-A0Y3-01B-11D-A10S-08	7634968	138643134	42272126	8	1349											
GRB10	2887	broad.mit.edu	37	chr7	50674044	50674044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctttacttaccactggcgtcGagaacggggacagcaaggcc	12	12	0	1			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr7:50674044G>A	ENST00000401949.1	-	14	1731	c.1262C>T	c.(1261-1263)tCg>tTg	p.S421L	GRB10_ENST00000357271.5_Missense_Mutation_p.S375L|GRB10_ENST00000407526.1_Missense_Mutation_p.S363L|GRB10_ENST00000402578.1_Missense_Mutation_p.S363L|GRB10_ENST00000398812.2_Missense_Mutation_p.S421L|GRB10_ENST00000406641.1_Missense_Mutation_p.S363L|GRB10_ENST00000398810.2_Missense_Mutation_p.S363L|GRB10_ENST00000402497.1_Missense_Mutation_p.S363L|GRB10_ENST00000335866.3_Missense_Mutation_p.S363L|GRB10_ENST00000439599.1_Missense_Mutation_p.S415L|GRB10_ENST00000403097.1_Missense_Mutation_p.S415L			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	421					insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					CACTGGCGTCGAGAACGGGGA	0.527									Russell-Silver syndrome																													ENST00000403097.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41						c.(1243-1245)tCg>tTg		growth factor receptor-bound protein 10							107	111	110					7																	50674044		1974	4147	6121	SO:0001583	missense	2887	Russell-Silver syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity	g.chr7:50674044G>A		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.1262C>T	7.37:g.50674044G>A	ENSP00000385770:p.Ser421Leu					GRB10_ENST00000398812.2_Missense_Mutation_p.S421L|GRB10_ENST00000335866.3_Missense_Mutation_p.S363L|GRB10_ENST00000407526.1_Missense_Mutation_p.S363L|GRB10_ENST00000402497.1_Missense_Mutation_p.S363L|GRB10_ENST00000357271.5_Missense_Mutation_p.S375L|GRB10_ENST00000402578.1_Missense_Mutation_p.S363L|GRB10_ENST00000398810.2_Missense_Mutation_p.S363L|GRB10_ENST00000439599.1_Missense_Mutation_p.S415L|GRB10_ENST00000406641.1_Missense_Mutation_p.S363L|GRB10_ENST00000401949.1_Missense_Mutation_p.S421L	p.S415L			Q13322	GRB10_HUMAN			13	2024	-	Glioma(55;0.08)|all_neural(89;0.245)		421					A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Missense_Mutation	SNP	ENST00000401949.1	37	c.1244C>T	CCDS43582.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.302882	0.23736	.	.	ENSG00000106070	ENST00000398812;ENST00000439599;ENST00000335866;ENST00000398810;ENST00000402578;ENST00000403097;ENST00000406641;ENST00000357271;ENST00000407526;ENST00000401949;ENST00000402497	D;D;D;D;D;D;D;D;D;D;D	0.83506	-1.6;-1.6;-1.73;-1.73;-1.73;-1.6;-1.73;-1.54;-1.73;-1.6;-1.73	5.34	2.4	0.29515	.	0.342170	0.31772	N	0.007087	T	0.79405	0.4440	M	0.71581	2.175	0.53005	D	0.999961	B;B;B	0.17268	0.012;0.021;0.003	B;B;B	0.15870	0.008;0.014;0.004	T	0.71388	-0.4608	10	0.46703	T	0.11	-0.8056	8.8516	0.35203	0.0709:0.0:0.6544:0.2747	.	415;375;421	Q13322-4;Q13322-2;Q13322	.;.;GRB10_HUMAN	L	421;415;363;363;363;415;363;375;363;421;363	ENSP00000381793:S421L;ENSP00000406716:S415L;ENSP00000338543:S363L;ENSP00000381790:S363L;ENSP00000385189:S363L;ENSP00000385544:S415L;ENSP00000385366:S363L;ENSP00000349818:S375L;ENSP00000385046:S363L;ENSP00000385770:S421L;ENSP00000385748:S363L	ENSP00000338543:S363L	S	-	2	0	GRB10	50641538	1.000000	0.71417	0.003000	0.11579	0.051000	0.14879	5.293000	0.65680	0.167000	0.19631	-0.136000	0.14681	TCG		0.527	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1			10	209	0	0	0	0.069234	0	10	209					A	50674044	G	A	50674044	3	1	57	1	0	0	0	0	1	0	0	0	6756	1059	37	1	546	1	GRB10	7	50674044	Missense_Mutation	SNP	G	TCGA-DE-A0Y3-01B-11D-A10S-08		50674044	108464619	9	1350											
MAGI2	9863	broad.mit.edu	37	chr7	77973161	77973161	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acttttcacctgcagaaactCatcaggctcgtctccaccaa	5	15	4	1			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr7:77973161C>T	ENST00000354212.4	-	9	1595	c.1342G>A	c.(1342-1344)Gag>Aag	p.E448K	MAGI2_ENST00000419488.1_Missense_Mutation_p.E448K|MAGI2_ENST00000535697.1_Missense_Mutation_p.E285K|MAGI2_ENST00000522391.1_Missense_Mutation_p.E448K|MAGI2_ENST00000536571.1_Missense_Mutation_p.E280K	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	448	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGCAGAAACTCATCAGGCTCG	0.473																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(1342-1344)Gag>Aag		membrane associated guanylate kinase, WW and PDZ domain containing 2							121	107	112					7																	77973161		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77973161C>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1342G>A	7.37:g.77973161C>T	ENSP00000346151:p.Glu448Lys					MAGI2_ENST00000419488.1_Missense_Mutation_p.E448K|MAGI2_ENST00000536571.1_Missense_Mutation_p.E280K|MAGI2_ENST00000535697.1_Missense_Mutation_p.E285K|MAGI2_ENST00000522391.1_Missense_Mutation_p.E448K	p.E448K	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			9	1595	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	448			PDZ 2.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.1342G>A	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	35	5.513023	0.96402	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76	5.81	5.81	0.92471	PDZ/DHR/GLGF (4);	0.000000	0.36854	U	0.002372	T	0.46658	0.1404	L	0.43554	1.36	0.80722	D	1	P;P;D;D;P;D	0.76494	0.911;0.687;0.999;0.999;0.911;0.997	P;B;D;D;P;D	0.87578	0.848;0.379;0.998;0.998;0.848;0.996	T	0.33954	-0.9848	10	0.87932	D	0	.	19.0794	0.93175	0.0:1.0:0.0:0.0	.	285;280;448;448;448;448	F5GWH1;F5GWK7;B7Z4H4;E7EWI0;Q86UL8-2;Q86UL8	.;.;.;.;.;MAGI2_HUMAN	K	448;448;448;448;280;285	ENSP00000405766:E448K;ENSP00000346151:E448K;ENSP00000428389:E448K;ENSP00000441584:E280K;ENSP00000441603:E285K	ENSP00000346151:E448K	E	-	1	0	MAGI2	77811097	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.746000	0.94184	0.591000	0.81541	GAG		0.473	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		43	55	0	0	0	0.045515	0	43	55					T	77973161	C	T	77973161	3	4	57	1	0	0	0	0	1	0	0	0	9191	835	29	2	3081	2	MAGI2	7	77973161	Missense_Mutation	SNP	C	TCGA-DE-A0Y3-01B-11D-A10S-08	27299117	77973161	81165502	10	1351											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		58	77	0	0	0	0.048971	0	58	77					T	140453136	A	T	140453136	3	4	57	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DE-A0Y3-01B-11D-A10S-08	62479975	140453136	18685527	11	1352											
DMRT3	58524	broad.mit.edu	37	chr9	990617	990617	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacacgttgaggttttctgCcgactctagcaacgttgtcc	10	11	2	2			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr9:990617C>T	ENST00000190165.2	+	2	1069	c.1031C>T	c.(1030-1032)gCc>gTc	p.A344V		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	344					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		AGGTTTTCTGCCGACTCTAGC	0.582																																						ENST00000190165.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1030-1032)gCc>gTc		doublesex and mab-3 related transcription factor 3							103	96	99					9																	990617		2203	4300	6503	SO:0001583	missense	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:990617C>T	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"testis-specific protein"	614754	"DMRT-like family A3"	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.1031C>T	9.37:g.990617C>T	ENSP00000190165:p.Ala344Val						p.A344V	NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	2	1069	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	344					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	c.1031C>T	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787200	0.49997	.	.	ENSG00000064218	ENST00000190165	T	0.25414	1.8	4.95	4.95	0.65309	.	0.743799	0.12602	N	0.454575	T	0.21590	0.0520	N	0.24115	0.695	0.28217	N	0.926708	B	0.24258	0.1	B	0.21708	0.036	T	0.10064	-1.0646	10	0.28530	T	0.3	-24.3838	18.2198	0.89898	0.0:1.0:0.0:0.0	.	344	Q9NQL9	DMRT3_HUMAN	V	344	ENSP00000190165:A344V	ENSP00000190165:A344V	A	+	2	0	DMRT3	980617	0.779000	0.28652	0.035000	0.18076	0.853000	0.48598	5.390000	0.66261	2.308000	0.77769	0.561000	0.74099	GCC		0.582	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		4	158	0	0	0	0.014758	0	4	158					T	990617	C	T	990617	3	4	57	1	0	0	0	0	1	0	0	0	4587	739	26	2	1037	2	DMRT3	9	990617	Missense_Mutation	SNP	C	TCGA-DE-A0Y3-01B-11D-A10S-08		990617	140222814	12	1353											
PLCE1	51196	broad.mit.edu	37	chr10	96066243	96066243	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaagcccgtgcattgaagtCgacgtcctgggcatgcctct	13	12	1	1			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr10:96066243C>T	ENST00000371380.3	+	25	5917	c.5682C>T	c.(5680-5682)gtC>gtT	p.V1894V	PLCE1_ENST00000371375.1_Silent_p.V1586V|PLCE1_ENST00000371385.3_Silent_p.V1586V|PLCE1_ENST00000260766.3_Silent_p.V1894V			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1894	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GCATTGAAGTCGACGTCCTGG	0.537																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(5680-5682)gtC>gtT		phospholipase C, epsilon 1							138	138	138					10																	96066243		2025	4177	6202	SO:0001819	synonymous_variant	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96066243C>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.5682C>T	10.37:g.96066243C>T						PLCE1_ENST00000371385.3_Silent_p.V1586V|PLCE1_ENST00000371380.2_Silent_p.V1894V|PLCE1_ENST00000371375.1_Silent_p.V1586V	p.V1894V	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			26	6316	+		Colorectal(252;0.0458)	1894			C2.		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	ENST00000371380.3	37	c.5682C>T	CCDS41552.1																																																																																				0.537	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		29	183	0	0	0	0.108266	0	29	183					T	96066243	C	T	96066243	2	4	57	1	0	0	0	0	0	0	0	1	12034	871	31	1		1	PLCE1	10	96066243	Silent	SNP	C	TCGA-DE-A0Y3-01B-11D-A10S-08		96066243	39468504	13	1354											
TMX2	51075	broad.mit.edu	37	chr11	57506197	57506197	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttctttgccaattggtctaAtgactgccaatcatttgccc	7	11	3	1			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr11:57506197A>T	ENST00000278422.4	+	5	515	c.503A>T	c.(502-504)aAt>aTt	p.N168I	C11orf31_ENST00000534355.1_5'Flank|TMX2_ENST00000378312.4_Missense_Mutation_p.N130I|TMX2-CTNND1_ENST00000528395.1_Intron|C11orf31_ENST00000388857.4_5'Flank	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	168	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						AATTGGTCTAATGACTGCCAA	0.488																																						ENST00000278422.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						c.(502-504)aAt>aTt		thioredoxin-related transmembrane protein 2							208	188	195					11																	57506197		2201	4294	6495	SO:0001583	missense	51075				cell redox homeostasis	integral to membrane		g.chr11:57506197A>T	AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"Protein disulfide isomerases"	30739	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 12"		"thioredoxin domain containing 14"	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.503A>T	11.37:g.57506197A>T	ENSP00000278422:p.Asn168Ile					TMX2_ENST00000378312.4_Missense_Mutation_p.N130I|TMX2-CTNND1_ENST00000528395.1_Intron	p.N168I	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN			5	515	+			168			Thioredoxin.		B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Missense_Mutation	SNP	ENST00000278422.4	37	c.503A>T	CCDS7967.1	.	.	.	.	.	.	.	.	.	.	A	15.49	2.847941	0.51164	.	.	ENSG00000213593	ENST00000378312;ENST00000278422	T;T	0.03272	3.99;3.99	5.95	1.07	0.20283	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.431641	0.24046	U	0.042056	T	0.03871	0.0109	L	0.29908	0.895	0.27580	N	0.949625	B;B	0.29232	0.012;0.238	B;B	0.37480	0.156;0.251	T	0.32981	-0.9886	10	0.72032	D	0.01	-18.56	6.632	0.22861	0.5416:0.1226:0.3357:0.0	.	130;168	Q9Y320-2;Q9Y320	.;TMX2_HUMAN	I	130;168	ENSP00000367562:N130I;ENSP00000278422:N168I	ENSP00000278422:N168I	N	+	2	0	TMX2	57262773	0.196000	0.23350	0.971000	0.41717	0.999000	0.98932	1.653000	0.37323	-0.062000	0.13088	0.533000	0.62120	AAT		0.488	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	NM_015959		5	299	0	0	0	0.014758	0	5	299					T	57506197	A	T	57506197	3	4	57	1	0	0	0	0	1	0	0	0	16264	101	4	5	521	5	TMX2	11	57506197	Missense_Mutation	SNP	A	TCGA-DE-A0Y3-01B-11D-A10S-08		57506197	77500319	14	1355											
PIK3C2G	5288	broad.mit.edu	37	chr12	18499700	18499700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatgcacttcctatctaaatCccgggcttccttcccacctc	5	17	1	0			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr12:18499700C>T	ENST00000266497.5	+	10	1593	c.1555C>T	c.(1555-1557)Ccc>Tcc	p.P519S	PIK3C2G_ENST00000433979.1_Missense_Mutation_p.P519S|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.P519S|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.P519S			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	519	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|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 binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CTATCTAAATCCCGGGCTTCC	0.448																																						ENST00000433979.1																			0				breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66						c.(1555-1557)Ccc>Tcc		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma							116	112	113					12																	18499700		1944	4136	6080	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18499700C>T	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.1555C>T	12.37:g.18499700C>T	ENSP00000266497:p.Pro519Ser					PIK3C2G_ENST00000538779.1_Missense_Mutation_p.P519S|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.P519S|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.P519S	p.P519S	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN			11	1671	+		Hepatocellular(102;0.194)	519					A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.1555C>T	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	C	1.569	-0.534708	0.04082	.	.	ENSG00000139144	ENST00000535651;ENST00000433979;ENST00000266497;ENST00000538779	T;T;T;T	0.75477	1.68;-0.94;-0.94;0.3	4.25	3.33	0.38152	Phosphoinositide 3-kinase, C2 (2);	3.722390	0.00424	N	0.000076	T	0.61060	0.2317	N	0.19112	0.55	0.09310	N	1	B;B;B	0.29805	0.138;0.216;0.257	B;B;B	0.34452	0.053;0.115;0.183	T	0.54886	-0.8226	10	0.06099	T	0.92	-2.5521	7.0377	0.25002	0.2055:0.6088:0.1857:0.0	.	518;519;519	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	S	519	ENSP00000443850:P519S;ENSP00000404845:P519S;ENSP00000266497:P519S;ENSP00000445381:P519S	ENSP00000266497:P519S	P	+	1	0	PIK3C2G	18390967	0.002000	0.14202	0.016000	0.15963	0.023000	0.10783	0.551000	0.23361	1.339000	0.45563	0.555000	0.69702	CCC		0.448	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		41	57	0	0	0	0.092188	0	41	57					T	18499700	C	T	18499700	3	4	57	1	0	0	0	0	1	0	0	0	11911	855	30	2	1593	2	PIK3C2G	12	18499700	Missense_Mutation	SNP	C	TCGA-DE-A0Y3-01B-11D-A10S-08		18499700	115352195	15	1356											
ERBB3	2065	broad.mit.edu	37	chr12	56495733	56495733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccccccatgtccattatgCccgcctaaaaactctacgta	6	16	1	0			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr12:56495733C>T	ENST00000267101.3	+	28	4363	c.3923C>T	c.(3922-3924)gCc>gTc	p.A1308V	ERBB3_ENST00000415288.2_Missense_Mutation_p.A1249V|RP11-603J24.17_ENST00000548595.1_RNA|ERBB3_ENST00000450146.2_Missense_Mutation_p.A665V|PA2G4_ENST00000303305.6_5'Flank|ERBB3_ENST00000549832.1_Missense_Mutation_p.A428V|RP11-603J24.9_ENST00000548861.1_Intron|PA2G4_ENST00000552766.1_5'Flank|ERBB3_ENST00000553131.1_Missense_Mutation_p.A549V	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1308					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GTCCATTATGCCCGCCTAAAA	0.527																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(3922-3924)gCc>gTc		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							129	140	136					12																	56495733		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56495733C>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.3923C>T	12.37:g.56495733C>T	ENSP00000267101:p.Ala1308Val					ERBB3_ENST00000450146.2_Missense_Mutation_p.A665V|ERBB3_ENST00000415288.2_Missense_Mutation_p.A1249V|ERBB3_ENST00000549832.1_Missense_Mutation_p.A428V|ERBB3_ENST00000553131.1_Missense_Mutation_p.A549V|RP11-603J24.9_ENST00000548861.1_Intron	p.A1308V	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		28	4363	+			1308					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.3923C>T	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	C	0.798	-0.756446	0.03019	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	T;T;T;T;T	0.79454	-1.13;-1.04;-1.12;-1.27;-1.01	5.39	3.57	0.40892	.	0.744698	0.12746	N	0.442597	T	0.58061	0.2096	N	0.08118	0	0.31198	N	0.700137	B;B;B	0.14438	0.01;0.006;0.005	B;B;B	0.18561	0.022;0.015;0.006	T	0.55114	-0.8191	10	0.27785	T	0.31	.	9.312	0.37910	0.0:0.6495:0.2745:0.076	.	1249;428;1308	P21860-4;B3KWG5;P21860	.;.;ERBB3_HUMAN	V	1308;665;1249;431;549;428	ENSP00000267101:A1308V;ENSP00000399178:A665V;ENSP00000408340:A1249V;ENSP00000449129:A549V;ENSP00000448729:A428V	ENSP00000267101:A1308V	A	+	2	0	ERBB3	54782000	1.000000	0.71417	0.826000	0.32828	0.023000	0.10783	2.894000	0.48640	0.840000	0.34995	-0.136000	0.14681	GCC		0.527	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			5	310	0	0	0	0.021553	0	5	310					T	56495733	C	T	56495733	3	4	57	1	0	0	0	0	1	0	0	0	5208	739	26	2	4164	2	ERBB3	12	56495733	Missense_Mutation	SNP	C	TCGA-DE-A0Y3-01B-11D-A10S-08	37996033	56495733	77356162	16	1357											
ADAM21	8747	broad.mit.edu	37	chr14	70924858	70924858	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggtttctggagctagttgtTgtggtgaaccatgatttctt	12	5	2	2			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr14:70924858T>A	ENST00000603540.1	+	2	900	c.642T>A	c.(640-642)gtT>gtA	p.V214V	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Silent_p.V214V	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	214	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.|Poly-Val.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AGCTAGTTGTTGTGGTGAACC	0.433																																						ENST00000603540.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31						c.(640-642)gtT>gtA		ADAM metallopeptidase domain 21							59	63	62					14																	70924858		2202	4296	6498	SO:0001819	synonymous_variant	8747				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70924858T>A	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"ADAM metallopeptidase domain containing"	200	protein-coding gene	gene with protein product		603713	"a disintegrin and metalloproteinase domain 21"			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.642T>A	14.37:g.70924858T>A						RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Silent_p.V214V	p.V214V	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	900	+			214			Peptidase M12B.|Poly-Val.		O43507|Q2VPC6|Q32MR0	Silent	SNP	ENST00000603540.1	37	c.642T>A	CCDS9804.1																																																																																				0.433	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			71	79	0	0	0	0.048971	0	71	79					A	70924858	T	A	70924858	2	1	57	1	0	0	0	0	0	0	0	1	243	1799	63	5		5	ADAM21	14	70924858	Silent	SNP	T	TCGA-DE-A0Y3-01B-11D-A10S-08		70924858	36424682	17	1358											
BATF	10538	broad.mit.edu	37	chr14	76012817	76012817	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctacaggagagcgaagacCtggagaaacagaacgcggct	13	11	0	4			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr14:76012817C>T	ENST00000286639.6	+	3	439	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L	BATF_ENST00000555504.1_Intron|BATF_ENST00000555795.1_3'UTR	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN	basic leucine zipper transcription factor, ATF-like	61	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hematopoietic stem cell differentiation (GO:0060218)|isotype switching (GO:0045190)|lymphoid progenitor cell differentiation (GO:0002320)|myeloid dendritic cell differentiation (GO:0043011)|T-helper 17 cell differentiation (GO:0072539)|T-helper 17 cell lineage commitment (GO:0072540)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		GAGCGAAGACCTGGAGAAACA	0.597																																						ENST00000286639.6																			0				large_intestine(1)|ovary(1)|skin(1)	3						c.(181-183)Ctg>Ttg		basic leucine zipper transcription factor, ATF-like							63	52	56					14																	76012817		2203	4300	6503	SO:0001819	synonymous_variant	10538					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:76012817C>T	AF016898	CCDS9843.1	14q24	2013-01-10				ENSG00000156127		"basic leucine zipper proteins"	958	protein-coding gene	gene with protein product	"activating transcription factor B", "SF-HT-activated gene 2"	612476				8570175, 8630063	Standard	NM_006399		Approved	B-ATF, SFA-2, BATF1	uc001xrr.3	Q16520		ENST00000286639.6:c.181C>T	14.37:g.76012817C>T						BATF_ENST00000555795.1_3'UTR|BATF_ENST00000555504.1_Intron	p.L61L	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.028)	3	439	+			61			Leucine-zipper.			Silent	SNP	ENST00000286639.6	37	c.181C>T	CCDS9843.1																																																																																				0.597	BATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413669.1	NM_006399		7	65	0	0	0	0.038147	0	7	65					T	76012817	C	T	76012817	2	4	57	1	0	0	0	0	0	0	0	1	1325	680	24	2		2	BATF	14	76012817	Silent	SNP	C	TCGA-DE-A0Y3-01B-11D-A10S-08	5087959	76012817	31336723	18	1359											
PRSS8	5652	broad.mit.edu	37	chr16	31144049	31144049	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgacagtgcagtggaggccGttggggaaggaggcgttggc	21	6	0	1	rs202046554		TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr16:31144049G>A	ENST00000317508.6	-	4	755	c.492C>T	c.(490-492)aaC>aaT	p.N164N	RP11-388M20.2_ENST00000563605.1_RNA|PRSS8_ENST00000568261.1_Silent_p.N110N	NM_002773.3	NP_002764.1	Q16651	PRSS8_HUMAN	protease, serine, 8	164	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				positive regulation of sodium ion transport (GO:0010765)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						AGTGGAGGCCGTTGGGGAAGG	0.652													G|||	1	0.000199681	8e-04	0	5008	,	,		18678	0		0	False		,,,				2504	0					ENST00000317508.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(490-492)aaC>aaT		protease, serine, 8							89	100	96					16																	31144049		2171	4273	6444	SO:0001819	synonymous_variant	5652				proteolysis	extracellular space|integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr16:31144049G>A	U33446	CCDS45469.1	16p11.2	2010-05-07	2007-02-21			ENSG00000052344		"Serine peptidases / Serine peptidases"	9491	protein-coding gene	gene with protein product	"prostasin"	600823				8838796, 7768952	Standard	NM_002773		Approved		uc002ebc.4	Q16651		ENST00000317508.6:c.492C>T	16.37:g.31144049G>A						PRSS8_ENST00000568261.1_Silent_p.N110N	p.N164N	NM_002773.3	NP_002764.1	Q16651	PRSS8_HUMAN			4	755	-			164			Peptidase S1.		B4DWP2|Q9UCA3	Silent	SNP	ENST00000317508.6	37	c.492C>T	CCDS45469.1																																																																																				0.652	PRSS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433536.1	NM_002773		4	139	0	0	0	0.014758	0	4	139					A	31144049	G	A	31144049	2	1	57	1	0	0	0	0	0	0	0	1	12635	1136	40	1		1	PRSS8	16	31144049	Silent	SNP	G	TCGA-DE-A0Y3-01B-11D-A10S-08		31144049	59210704	19	1360											
SLC46A1	113235	broad.mit.edu	37	chr17	26733056	26733056	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggccaggaagaccagcggcTctaccgggccccggcacagc	14	16	1	1			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr17:26733056T>G	ENST00000440501.1	-	1	172	c.77A>C	c.(76-78)gAg>gCg	p.E26A	SLC46A1_ENST00000584729.1_5'UTR|CTD-2350C19.1_ENST00000583956.1_RNA|CTD-2350C19.2_ENST00000580714.1_RNA|SLC46A1_ENST00000321666.5_Missense_Mutation_p.E26A	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	26					cellular iron ion homeostasis (GO:0006879)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|heme transporter activity (GO:0015232)|methotrexate transporter activity (GO:0015350)			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)|Methotrexate(DB00563)|Sulfasalazine(DB00795)	GACCAGCGGCTCTACCGGGCC	0.716																																						ENST00000440501.1																			0				lung(5)	5						c.(76-78)gAg>gCg		solute carrier family 46 (folate transporter), member 1	Folic Acid(DB00158)						9	11	10					17																	26733056		1891	4068	5959	SO:0001583	missense	113235				cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity	g.chr17:26733056T>G	AK054669	CCDS74019.1, CCDS74020.1	17q11.2	2014-09-17	2007-09-24			ENSG00000076351		"Solute carriers"	30521	protein-coding gene	gene with protein product	"heme carrier protein 1", "proton-coupled folate transporter"	611672	"solute carrier family 46, member 1"			16143108, 17129779	Standard	XM_005277786		Approved	HCP1, MGC9564, PCFT	uc002hbf.2	Q96NT5		ENST00000440501.1:c.77A>C	17.37:g.26733056T>G	ENSP00000395653:p.Glu26Ala					CTD-2350C19.2_ENST00000580714.1_RNA|SLC46A1_ENST00000584729.1_5'UTR|SLC46A1_ENST00000321666.5_Missense_Mutation_p.E26A	p.E26A	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	1	172	-	all_lung(13;0.000533)|Lung NSC(42;0.00171)		26					Q1HE20|Q86T92|Q8TEG3|Q96FL0	Missense_Mutation	SNP	ENST00000440501.1	37	c.77A>C		.	.	.	.	.	.	.	.	.	.	t	27.5	4.834627	0.91036	.	.	ENSG00000076351	ENST00000440501;ENST00000321666	T;T	0.58060	0.54;0.36	4.62	3.54	0.40534	.	0.052253	0.85682	D	0.000000	T	0.67979	0.2951	.	.	.	0.80722	D	1	D;P;P	0.67145	0.996;0.901;0.841	D;P;B	0.68943	0.961;0.634;0.283	T	0.69057	-0.5246	9	0.56958	D	0.05	-12.3525	10.3403	0.43873	0.0:0.0782:0.0:0.9218	.	26;26;26	B4DJ17;Q96NT5-2;Q96NT5	.;.;PCFT_HUMAN	A	26	ENSP00000395653:E26A;ENSP00000318828:E26A	ENSP00000318828:E26A	E	-	2	0	SLC46A1	23757183	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.947000	0.63583	0.905000	0.36596	0.456000	0.33151	GAG		0.716	SLC46A1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_080669		6	9	0	0	0	0.038147	0	6	9					G	26733056	T	G	26733056	3	3	57	1	0	0	0	0	1	0	0	0	14644	1551	54	5	1323	5	SLC46A1	17	26733056	Missense_Mutation	SNP	T	TCGA-DE-A0Y3-01B-11D-A10S-08		26733056	54462154	20	1361											
CCL23	6368	broad.mit.edu	37	chr17	34340319	34340319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttatcactggggttggcaCagaaacgtcgccccttcttg	11	12	2	1			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr17:34340319C>T	ENST00000591423.1	-	4	345	c.281G>A	c.(280-282)tGt>tAt	p.C94Y	RP11-104J23.1_ENST00000590192.1_RNA|CCL23_ENST00000293280.2_Missense_Mutation_p.C111Y|RP11-104J23.1_ENST00000588294.1_RNA|RP11-104J23.2_ENST00000590149.1_lincRNA	NM_145898.1	NP_665905.1	P55773	CCL23_HUMAN	chemokine (C-C motif) ligand 23	94					cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|monocyte chemotaxis (GO:0002548)|negative regulation of C-C chemokine binding (GO:2001264)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR1 chemokine receptor binding (GO:0031726)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)			large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGGGTTGGCACAGAAACGTCG	0.522																																						ENST00000293280.2																			0				large_intestine(2)|liver(1)|lung(2)|prostate(1)	6						c.(331-333)tGt>tAt		chemokine (C-C motif) ligand 23	Treprostinil(DB00374)						82	66	72					17																	34340319		2203	4300	6503	SO:0001583	missense	6368				cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation	extracellular space	chemokine activity|heparin binding	g.chr17:34340319C>T	U58913	CCDS11305.1, CCDS59282.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000167236	ENSG00000274736		"Chemokine ligands", "Endogenous ligands"	10622	protein-coding gene	gene with protein product		602494	"small inducible cytokine subfamily A (Cys-Cys), member 23"	SCYA23		9104803, 10409433	Standard	XR_429910		Approved	Ckb-8, MPIF-1, MIP-3, CKb8	uc002hks.1	P55773	OTTHUMG00000188409	ENST00000591423.1:c.281G>A	17.37:g.34340319C>T	ENSP00000465954:p.Cys94Tyr					CCL23_ENST00000591423.1_Missense_Mutation_p.C94Y	p.C111Y	NM_005064.3	NP_005055.2	P55773	CCL23_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	402	-		Ovarian(249;0.17)	94					B7ZKQ3|O00174|O75950|Q52LD4	Missense_Mutation	SNP	ENST00000591423.1	37	c.332G>A	CCDS59282.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.897014	0.52121	.	.	ENSG00000167236	ENST00000293280	D	0.92858	-3.12	3.71	3.71	0.42584	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.000000	0.64402	D	0.000001	D	0.97164	0.9073	H	0.97340	3.985	0.40082	D	0.976149	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97718	1.0195	10	0.87932	D	0	.	11.1709	0.48571	0.0:1.0:0.0:0.0	.	94;111	P55773;P55773-2	CCL23_HUMAN;.	Y	111	ENSP00000293280:C111Y	ENSP00000293280:C111Y	C	-	2	0	CCL23	31364432	1.000000	0.71417	0.630000	0.29268	0.008000	0.06430	3.469000	0.53093	2.062000	0.61559	0.511000	0.50034	TGT		0.522	CCL23-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450228.1	NM_005064, NM_145898		20	24	0	0	0	0.062417	0	20	24					T	34340319	C	T	34340319	3	4	57	1	0	0	0	0	1	0	0	0	2895	478	17	2	85	2	CCL23	17	34340319	Missense_Mutation	SNP	C	TCGA-DE-A0Y3-01B-11D-A10S-08	7607263	34340319	46854891	21	1362											
GLTSCR2	29997	broad.mit.edu	37	chr19	48254336	48254336	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccaggacaccgtagagcgGcccttctacgacctctgggc	11	17	2	1			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr19:48254336G>A	ENST00000246802.5	+	4	608	c.570G>A	c.(568-570)cgG>cgA	p.R190R	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	190				RRKEQLWEKLAKQGELPREVRRAQARLLNPSATRAKPGPQD TVERP -> SGRSSYGRSWPSRASSPGGAQGPSPVAQPFCN KGPNPAPGHRIAA (in Ref. 3; AAG30413). {ECO:0000305}.		intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		CCGTAGAGCGGCCCTTCTACG	0.647																																					Colon(58;613 1041 9473 10089 15241)	ENST00000246802.5																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15						c.(568-570)cgG>cgA		glioma tumor suppressor candidate region gene 2							19	17	17					19																	48254336		2202	4300	6502	SO:0001819	synonymous_variant	29997					nucleolus		g.chr19:48254336G>A	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.570G>A	19.37:g.48254336G>A						GLTSCR2_ENST00000598681.1_3'UTR	p.R190R	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)	4	608	+		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)	190	RRKEQLWEKLAKQGELPREVRRAQARLLNPSATRAKPGPQD TVERP -> SGRSSYGRSWPSRASSPGGAQGPSPVAQPFCN KGPNPAPGHRIAA (in Ref. 3; AAG30413).				Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Silent	SNP	ENST00000246802.5	37	c.570G>A	CCDS12705.1																																																																																				0.647	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710		11	16	0	0	0	0.024245	0	11	16					A	48254336	G	A	48254336	2	1	57	1	0	0	0	0	0	0	0	1	6475	1190	42	2		2	GLTSCR2	19	48254336	Silent	SNP	G	TCGA-DE-A0Y3-01B-11D-A10S-08		48254336	10874647	22	1363											
ZSCAN5A	79149	broad.mit.edu	37	chr19	56736373	56736373	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctccaacccaggtctgttgcAggattctcctagactccatg	8	14	2	1	rs201140936		TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr19:56736373A>T	ENST00000587340.1	-	4	738	c.43T>A	c.(43-45)Tgc>Agc	p.C15S	ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.C15S|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.C15S|ZSCAN5A_ENST00000254165.3_Intron|ZSCAN5A_ENST00000587492.1_Intron			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	15					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GGTCTGTTGCAGGATTCTCCT	0.468																																						ENST00000587340.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(43-45)Tgc>Agc		zinc finger and SCAN domain containing 5A							60	62	61					19																	56736373		2203	4300	6503	SO:0001583	missense	79149				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56736373A>T	AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"-", "Zinc fingers, C2H2-type"	23710	protein-coding gene	gene with protein product			"zinc finger protein 495", "zinc finger and SCAN domain containing 5"	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.43T>A	19.37:g.56736373A>T	ENSP00000467631:p.Cys15Ser					ZSCAN5A_ENST00000254165.3_Intron|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.C15S|ZSCAN5A_ENST00000587492.1_Intron|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.C15S	p.C15S			Q9BUG6	ZSA5A_HUMAN			4	738	-			15					B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	ENST00000587340.1	37	c.43T>A	CCDS12941.1	.	.	.	.	.	.	.	.	.	.	A	2.930	-0.221266	0.06061	.	.	ENSG00000131848	ENST00000391713	T	0.07444	3.19	2.08	-0.391	0.12446	.	.	.	.	.	T	0.05960	0.0155	L	0.59436	1.845	0.09310	N	1	P	0.38922	0.651	B	0.30401	0.115	T	0.33777	-0.9855	9	0.22109	T	0.4	.	2.1329	0.03754	0.3942:0.3343:0.2715:0.0	.	15	Q9BUG6	ZSA5A_HUMAN	S	15	ENSP00000375593:C15S	ENSP00000375593:C15S	C	-	1	0	ZSCAN5A	61428185	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	-0.081000	0.11321	-0.084000	0.12595	0.529000	0.55759	TGC		0.468	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1	NM_024303		8	99	0	0	0	0.038147	0	8	99					T	56736373	A	T	56736373	3	4	57	1	0	0	0	0	1	0	0	0	18235	188	7	5	1463	5	ZSCAN5A	19	56736373	Missense_Mutation	SNP	A	TCGA-DE-A0Y3-01B-11D-A10S-08	8482037	56736373	2392610	23	1364											
PDK3	5165	broad.mit.edu	37	chrX	24483609	24483609	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgctgaagcagccggtgCccaagcagatcgagcgctac	14	13	0	2			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chrX:24483609C>T	ENST00000379162.4	+	1	272	c.37C>T	c.(37-39)Ccc>Tcc	p.P13S	PDK3_ENST00000441463.2_Missense_Mutation_p.P13S	NM_005391.4	NP_005382.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	13					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|peptidyl-serine phosphorylation (GO:0018105)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|regulation of reactive oxygen species metabolic process (GO:2000377)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GCAGCCGGTGCCCAAGCAGAT	0.687																																						ENST00000441463.2																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(37-39)Ccc>Tcc		pyruvate dehydrogenase kinase, isozyme 3							14	16	15					X																	24483609		2195	4286	6481	SO:0001583	missense	5165				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chrX:24483609C>T	L42452	CCDS14212.1, CCDS48088.1	Xp22.12	2008-02-05	2005-11-16		ENSG00000067992	ENSG00000067992			8811	protein-coding gene	gene with protein product		300906	"pyruvate dehydrogenase kinase, isoenzyme 3"			7499431	Standard	NM_001142386		Approved		uc004dbh.3	Q15120	OTTHUMG00000021269	ENST00000379162.4:c.37C>T	X.37:g.24483609C>T	ENSP00000368460:p.Pro13Ser					PDK3_ENST00000379162.4_Missense_Mutation_p.P13S	p.P13S	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN			1	37	+			13					B4DXG6	Missense_Mutation	SNP	ENST00000379162.4	37	c.37C>T	CCDS14212.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035932	0.54896	.	.	ENSG00000067992	ENST00000379162;ENST00000441463	T;T	0.40225	1.04;1.58	4.2	4.2	0.49525	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (2);	0.318671	0.33161	N	0.005210	T	0.29945	0.0749	L	0.31065	0.9	0.46823	D	0.999213	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.09314	-1.0680	10	0.10111	T	0.7	.	15.7857	0.78300	0.0:1.0:0.0:0.0	.	13;13	B4DXG6;Q15120	.;PDK3_HUMAN	S	13	ENSP00000368460:P13S;ENSP00000387536:P13S	ENSP00000368460:P13S	P	+	1	0	PDK3	24393530	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.329000	0.65892	2.077000	0.62373	0.292000	0.19580	CCC		0.687	PDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056097.1	NM_005391		8	16	0	0	0	0.038147	0	8	16					T	24483609	C	T	24483609	3	4	57	1	0	0	0	0	1	0	0	0	11677	739	26	2	39	2	PDK3	23	24483609	Missense_Mutation	SNP	C	TCGA-DE-A0Y3-01B-11D-A10S-08		24483609	130786951	24	1365											
PDPN	10630	broad.mit.edu	37	chr1	13942398	13942398	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacccttctctattttcacAggccctaaagagctgaaggg	8	12	3	2			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr1:13942398A>G	ENST00000509009.1	+	6	511		c.e6-1		PDPN_ENST00000376061.4_Splice_Site|PDPN_ENST00000376057.4_Splice_Site|PDPN_ENST00000475043.1_Splice_Site|PDPN_ENST00000487038.1_Splice_Site|PDPN_ENST00000513143.1_Splice_Site|PDPN_ENST00000294489.6_Splice_Site					podoplanin											endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-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;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		CTATTTTCACAGGCCCTAAAG	0.478																																						ENST00000294489.6																			0				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16						c.e6-1		podoplanin							158	134	142					1																	13942398		2203	4300	6503	SO:0001630	splice_region_variant	10630				cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane		g.chr1:13942398A>G	AB127958, AY194238	CCDS30602.1, CCDS41266.1, CCDS44060.1, CCDS53270.1	1p36.21	2008-02-05			ENSG00000162493	ENSG00000162493			29602	protein-coding gene	gene with protein product	"lung type I cell membrane associated glycoprotein"	608863				10393083, 9651190	Standard	NM_006474		Approved	T1A-2, Gp38, aggrus, GP40, PA2.26	uc001avd.3	Q86YL7	OTTHUMG00000007912	ENST00000509009.1:c.468-1A>G	1.37:g.13942398A>G						PDPN_ENST00000509009.1_Splice_Site|PDPN_ENST00000475043.1_Splice_Site|PDPN_ENST00000513143.1_Splice_Site|PDPN_ENST00000487038.1_Splice_Site|PDPN_ENST00000376061.4_Splice_Site|PDPN_ENST00000376057.4_Splice_Site				Q86YL7	PDPN_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)	6	1051	+	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-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)							Splice_Site	SNP	ENST00000509009.1	37			.	.	.	.	.	.	.	.	.	.	A	12.39	1.922725	0.33908	.	.	ENSG00000162493	ENST00000294489;ENST00000376057;ENST00000509009;ENST00000376061;ENST00000513143;ENST00000487038;ENST00000475043	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9836	0.47510	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDPN	13814985	1.000000	0.71417	1.000000	0.80357	0.279000	0.26890	4.428000	0.59894	2.087000	0.62958	0.533000	0.62120	.		0.478	PDPN-009	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367736.1	NM_006474	Intron	3	83	0	0	0	6.4e-05	0	3	83					G	13942398	A	G	13942398	5	3	58	1	0	0	0	0	0	0	1	0	11688	202	7	3	731	3	PDPN	1	13942398	Splice_Site	SNP	A	TCGA-DE-A2OL-01A-11D-A18F-08		13942398	235308223	1	1366											
THPO	7066	broad.mit.edu	37	chr3	184090683	184090683	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcagcagaccaggaatcttgGctctgaatccctgctgccac	9	14	3	2			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr3:184090683G>C	ENST00000204615.7	-	6	894	c.680C>G	c.(679-681)gCc>gGc	p.A227G	THPO_ENST00000477594.1_5'Flank|EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000421442.2_Missense_Mutation_p.S188R|THPO_ENST00000445696.2_Missense_Mutation_p.A223G	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	227					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|thrombopoietin-mediated signaling pathway (GO:0038163)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGGAATCTTGGCTCTGAATCC	0.527																																						ENST00000204615.7																			0				NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(679-681)gCc>gGc		thrombopoietin							62	59	60					3																	184090683		2203	4300	6503	SO:0001583	missense	7066				cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity	g.chr3:184090683G>C		CCDS3265.1, CCDS54693.1	3q27	2014-01-30	2008-07-31		ENSG00000090534	ENSG00000090534		"Endogenous ligands"	11795	protein-coding gene	gene with protein product	"prepro-thrombopoietin", "megakaryocyte stimulating factor", "myeloproliferative leukemia virus oncogene ligand", "megakaryocyte growth and development factor", "MPL ligand", "megakaryocyte colony-stimulating factor", "c-mpl ligand", "thrombopoietin nirs variant 1"	600044		MGDF		8202154	Standard	XM_006713738		Approved	TPO, MPLLG	uc003fol.1	P40225	OTTHUMG00000156745	ENST00000204615.7:c.680C>G	3.37:g.184090683G>C	ENSP00000204615:p.Ala227Gly					THPO_ENST00000421442.2_Missense_Mutation_p.S188R|EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000445696.2_Missense_Mutation_p.A223G	p.A227G	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		6	894	-	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		227					A1L3Y0|B7ZLR8|B9EGA8|Q13020|Q15790|Q15791|Q15792	Missense_Mutation	SNP	ENST00000204615.7	37	c.680C>G	CCDS3265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	12.26|12.26	1.884739|1.884739	0.33255|0.33255	.|.	.|.	ENSG00000090534|ENSG00000090534	ENST00000204615;ENST00000445696;ENST00000353488|ENST00000421442	T;T|T	0.35421|0.37915	1.31;1.32|1.17	4.18|4.18	2.29|2.29	0.28610|0.28610	Four-helical cytokine, core (1);|.	0.474650|.	0.17772|.	N|.	0.162553|.	T|T	0.25419|0.25419	0.0618|0.0618	L|L	0.29908|0.29908	0.895|0.895	0.22926|0.22926	N|N	0.998557|0.998557	P;P|B	0.40731|0.14012	0.728;0.608|0.009	B;B|B	0.38616|0.12156	0.277;0.143|0.007	T|T	0.21280|0.21280	-1.0250|-1.0250	10|9	0.72032|0.62326	D|D	0.01|0.03	-8.2907|-8.2907	7.0482|7.0482	0.25059|0.25059	0.2228:0.0:0.7772:0.0|0.2228:0.0:0.7772:0.0	.|.	223;227|188	P40225-2;P40225|F8W6L1	.;TPO_HUMAN|.	G|R	227;223;188|188	ENSP00000204615:A227G;ENSP00000410763:A223G|ENSP00000411704:S188R	ENSP00000204615:A227G|ENSP00000411704:S188R	A|S	-|-	2|3	0|2	THPO|THPO	185573377|185573377	0.990000|0.990000	0.36364|0.36364	0.994000|0.994000	0.49952|0.49952	0.791000|0.791000	0.44710|0.44710	1.387000|1.387000	0.34430|0.34430	0.943000|0.943000	0.37553|0.37553	0.461000|0.461000	0.40582|0.40582	GCC|AGC		0.527	THPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345554.1	NM_000460		4	50	0	0	0	0.00024832	0	4	50					C	184090683	G	C	184090683	3	2	58	1	0	0	0	0	1	0	0	0	15869	1203	42	4	385	4	THPO	3	184090683	Missense_Mutation	SNP	G	TCGA-DE-A2OL-01A-11D-A18F-08		184090683	13931747	2	1367											
STK32B	55351	broad.mit.edu	37	chr4	5468544	5468544	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acagatccagggatggcacaAaggacagctgcccgctggtg	14	11	0	1			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr4:5468544A>C	ENST00000282908.5	+	10	1446	c.1024A>C	c.(1024-1026)Aag>Cag	p.K342Q	STK32B_ENST00000512636.1_Missense_Mutation_p.K265Q|STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000510398.1_Missense_Mutation_p.K295Q	NM_018401.1	NP_060871.1			serine/threonine kinase 32B											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						GGATGGCACAAAGGACAGCTG	0.502																																						ENST00000282908.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						c.(1024-1026)Aag>Cag		serine/threonine kinase 32B							81	78	79					4																	5468544		2203	4300	6503	SO:0001583	missense	55351						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr4:5468544A>C	AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.1024A>C	4.37:g.5468544A>C	ENSP00000282908:p.Lys342Gln					STK32B_ENST00000512636.1_Missense_Mutation_p.K265Q|STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000510398.1_Missense_Mutation_p.K295Q	p.K342Q	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN			10	1446	+			342		K -> T (in dbSNP:rs55961955).				Missense_Mutation	SNP	ENST00000282908.5	37	c.1024A>C	CCDS3380.1	.	.	.	.	.	.	.	.	.	.	A	12.15	1.852903	0.32699	.	.	ENSG00000152953	ENST00000282908;ENST00000512636;ENST00000510398	T;T;T	0.68479	-0.26;0.05;-0.33	4.95	4.95	0.65309	.	0.000000	0.43416	U	0.000567	T	0.77928	0.4204	M	0.73962	2.25	0.50313	D	0.999866	D	0.62365	0.991	D	0.64321	0.924	T	0.76080	-0.3090	10	0.23891	T	0.37	.	13.4591	0.61217	1.0:0.0:0.0:0.0	.	342	Q9NY57	ST32B_HUMAN	Q	342;265;295	ENSP00000282908:K342Q;ENSP00000423209:K265Q;ENSP00000420984:K295Q	ENSP00000282908:K342Q	K	+	1	0	STK32B	5519445	0.914000	0.31030	0.874000	0.34290	0.090000	0.18270	1.958000	0.40402	1.862000	0.54008	0.472000	0.43445	AAG		0.502	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206854.4	NM_018401		3	40	0	0	0	0.00024832	0	3	40					C	5468544	A	C	5468544	3	2	58	1	0	0	0	0	1	0	0	0	15297	15	1	5	1062	5	STK32B	4	5468544	Missense_Mutation	SNP	A	TCGA-DE-A2OL-01A-11D-A18F-08		5468544	185685732	3	1368											
FAM13A	10144	broad.mit.edu	37	chr4	89653166	89653166	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacatacattgaggcagcatGgagatttgaaagccctgtgt	12	7	0	3			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr4:89653166G>T	ENST00000264344.5	-	22	3037	c.2830C>A	c.(2830-2832)Cat>Aat	p.H944N	FAM13A_ENST00000508369.1_Missense_Mutation_p.H618N|FAM13A_ENST00000395002.2_Missense_Mutation_p.H590N|FAM13A_ENST00000513837.1_Missense_Mutation_p.H590N|FAM13A-AS1_ENST00000500765.1_RNA|FAM13A_ENST00000511976.1_Missense_Mutation_p.H530N|FAM13A_ENST00000503556.1_Missense_Mutation_p.H604N	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	944					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GAGGCAGCATGGAGATTTGAA	0.368																																						ENST00000264344.5																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						c.(2830-2832)Cat>Aat		family with sequence similarity 13, member A							113	100	105					4																	89653166		2203	4300	6503	SO:0001583	missense	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89653166G>T	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"Rho GTPase activating proteins"	19367	protein-coding gene	gene with protein product		613299	"family with sequence similarity 13, member A1"	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.2830C>A	4.37:g.89653166G>T	ENSP00000264344:p.His944Asn					FAM13A_ENST00000508369.1_Missense_Mutation_p.H618N|FAM13A_ENST00000511976.1_Missense_Mutation_p.H530N|FAM13A_ENST00000395002.2_Missense_Mutation_p.H590N|FAM13A_ENST00000513837.1_Missense_Mutation_p.H590N|FAM13A_ENST00000503556.1_Missense_Mutation_p.H604N	p.H944N	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN			22	3037	-			944					B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	ENST00000264344.5	37	c.2830C>A	CCDS34029.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.997073	0.54147	.	.	ENSG00000138640	ENST00000395002;ENST00000264344;ENST00000503556;ENST00000511976;ENST00000508369;ENST00000513837	T;T;T;T;T;T	0.52526	0.66;1.86;1.17;1.24;1.16;1.17	5.52	5.52	0.82312	.	0.048248	0.85682	D	0.000000	T	0.64768	0.2628	L	0.47078	1.49	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;0.998;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.994;0.992;0.997;0.999;0.999	T	0.62595	-0.6821	10	0.52906	T	0.07	.	19.6296	0.95694	0.0:0.0:1.0:0.0	.	590;530;944;590;604;618	O94988-6;E9PGM7;O94988;O94988-3;O94988-5;O94988-1	.;.;FA13A_HUMAN;.;.;.	N	590;944;604;530;618;590	ENSP00000378450:H590N;ENSP00000264344:H944N;ENSP00000427189:H604N;ENSP00000421914:H530N;ENSP00000421562:H618N;ENSP00000423252:H590N	ENSP00000264344:H944N	H	-	1	0	FAM13A	89872189	1.000000	0.71417	0.999000	0.59377	0.138000	0.21146	8.793000	0.91862	2.873000	0.98535	0.563000	0.77884	CAT		0.368	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			4	46	1	0	0.00116845	0.00116845	0.00408956	4	46					T	89653166	G	T	89653166	3	4	58	1	0	0	0	0	1	0	0	0	5452	1348	47	4	253	4	FAM13A	4	89653166	Missense_Mutation	SNP	G	TCGA-DE-A2OL-01A-11D-A18F-08	84184622	89653166	101501110	4	1369											
MAS1L	116511	broad.mit.edu	37	chr6	29454710	29454710	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgagagattccttcagccTtttctttctgaggctcccca	7	13	4	3			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr6:29454710T>C	ENST00000377127.3	-	1	1028	c.970A>G	c.(970-972)Agg>Ggg	p.R324G		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	324					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R324G(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						TCCTTCAGCCTTTTCTTTCTG	0.463																																					NSCLC(153;755 1987 3859 11251 32945)	ENST00000377127.3																			1	Substitution - Missense(1)	p.R324G(1)	prostate(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						c.(970-972)Agg>Ggg		MAS1 oncogene-like							94	100	98					6																	29454710		2203	4300	6503	SO:0001583	missense	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29454710T>C	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"GPCR / Class A : Orphans"	13961	protein-coding gene	gene with protein product		607235	"MAS1 oncogene-like"				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.970A>G	6.37:g.29454710T>C	ENSP00000366331:p.Arg324Gly						p.R324G	NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN			1	1028	-			324					Q5SUN5	Missense_Mutation	SNP	ENST00000377127.3	37	c.970A>G	CCDS4661.1	.	.	.	.	.	.	.	.	.	.	T	7.400	0.632554	0.14322	.	.	ENSG00000204687	ENST00000377127	T	0.37584	1.19	2.36	-0.36	0.12568	.	.	.	.	.	T	0.14527	0.0351	L	0.39633	1.23	0.09310	N	1	B	0.29378	0.243	B	0.36845	0.234	T	0.38134	-0.9675	9	0.56958	D	0.05	.	8.1955	0.31394	0.0:0.0:0.4246:0.5754	.	324	P35410	MAS1L_HUMAN	G	324	ENSP00000366331:R324G	ENSP00000366331:R324G	R	-	1	2	MAS1L	29562689	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.995000	0.03712	-0.236000	0.09753	-0.612000	0.04053	AGG		0.463	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		3	127	0	0	0	0.00024832	0	3	127					C	29454710	T	C	29454710	3	2	58	1	0	0	0	0	1	0	0	0	9321	1608	56	3	168	3	MAS1L	6	29454710	Missense_Mutation	SNP	T	TCGA-DE-A2OL-01A-11D-A18F-08		29454710	141660357	5	1370											
RGL2	5863	broad.mit.edu	37	chr6	33263171	33263171	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgacaccacggcataaactGaagagaagtttcggagcagc	11	10	0	3			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr6:33263171G>A	ENST00000497454.1	-	8	1544	c.1049C>T	c.(1048-1050)tCa>tTa	p.S350L	RGL2_ENST00000437840.2_5'UTR|RGL2_ENST00000444031.2_Missense_Mutation_p.S268L|PFDN6_ENST00000463584.1_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	350	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						GGCATAAACTGAAGAGAAGTT	0.602																																						ENST00000497454.1																			0				breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						c.(1048-1050)tCa>tTa		ral guanine nucleotide dissociation stimulator-like 2							30	33	32					6																	33263171		2203	4300	6503	SO:0001583	missense	5863				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr6:33263171G>A		CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"RAB2, member RAS oncogene family-like"	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.1049C>T	6.37:g.33263171G>A	ENSP00000420211:p.Ser350Leu					PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000444031.2_Missense_Mutation_p.S268L|RGL2_ENST00000437840.2_5'UTR	p.S350L	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN			8	1544	-			350			Ras-GEF.		B4DG72|Q5STK0|Q9Y3F3	Missense_Mutation	SNP	ENST00000497454.1	37	c.1049C>T	CCDS4774.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758180	0.69763	.	.	ENSG00000237441	ENST00000497454;ENST00000421215;ENST00000444031	T;T	0.40476	1.03;1.03	5.01	5.01	0.66863	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.66636	0.2809	M	0.92833	3.35	0.80722	D	1	D;B	0.89917	1.0;0.43	D;B	0.91635	0.999;0.191	T	0.74685	-0.3582	10	0.87932	D	0	.	13.6974	0.62589	0.0:0.0:1.0:0.0	.	268;350	B4DG72;O15211	.;RGL2_HUMAN	L	350;214;268	ENSP00000420211:S350L;ENSP00000403070:S268L	ENSP00000400083:S214L	S	-	2	0	RGL2	33371149	1.000000	0.71417	0.917000	0.36280	0.991000	0.79684	6.544000	0.73878	2.599000	0.87857	0.643000	0.83706	TCA		0.602	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076098.2			5	6	0	0	0	0.00198382	0	5	6					A	33263171	G	A	33263171	3	1	58	1	0	0	0	0	1	0	0	0	13277	1294	45	2	1328	2	RGL2	6	33263171	Missense_Mutation	SNP	G	TCGA-DE-A2OL-01A-11D-A18F-08	3808461	33263171	137851896	6	1371											
TG	7038	broad.mit.edu	37	chr8	133906022	133906022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagcttccaacagttctcGgttccctctgggggagagtt	11	11	3	1	rs375996100	byFrequency	TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr8:133906022G>A	ENST00000220616.4	+	11	2889	c.2849G>A	c.(2848-2850)cGg>cAg	p.R950Q	TG_ENST00000377869.1_Missense_Mutation_p.R950Q	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	950	Thyroglobulin type-1 8. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AACAGTTCTCGGTTCCCTCTG	0.572																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(2848-2850)cGg>cAg		thyroglobulin							134	125	128					8																	133906022		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133906022G>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.2849G>A	8.37:g.133906022G>A	ENSP00000220616:p.Arg950Gln					TG_ENST00000377869.1_Missense_Mutation_p.R950Q	p.R950Q	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	11	2889	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	950			Thyroglobulin type-1 8.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.2849G>A	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	g	8.366	0.834213	0.16820	.	.	ENSG00000042832	ENST00000377869;ENST00000220616	T;T	0.62105	0.05;0.05	5.14	-4.8	0.03190	.	1.621170	0.03855	N	0.272902	T	0.30355	0.0762	N	0.01576	-0.805	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.19160	-1.0314	10	0.19147	T	0.46	.	8.4662	0.32958	0.6663:0.1668:0.1669:0.0	.	950	P01266	THYG_HUMAN	Q	950	ENSP00000367100:R950Q;ENSP00000220616:R950Q	ENSP00000220616:R950Q	R	+	2	0	TG	133975204	0.000000	0.05858	0.001000	0.08648	0.735000	0.41995	-0.425000	0.07017	-0.782000	0.04541	0.380000	0.24917	CGG		0.572	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		4	111	0	0	0	0.00024832	0	4	111					A	133906022	G	A	133906022	3	1	58	1	0	0	0	0	1	0	0	0	15810	1116	39	1	2891	1	TG	8	133906022	Missense_Mutation	SNP	G	TCGA-DE-A2OL-01A-11D-A18F-08		133906022	12458000	7	1372											
TLR4	7099	broad.mit.edu	37	chr9	120475419	120475419	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggcaacatttagaattagTtaactgtaaatttggacagt	8	4	0	1			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr9:120475419T>C	ENST00000355622.6	+	3	1114	c.1013T>C	c.(1012-1014)gTt>gCt	p.V338A	TLR4_ENST00000394487.4_Missense_Mutation_p.V298A|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	338					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|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 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)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	TTAGAATTAGTTAACTGTAAA	0.338																																						ENST00000355622.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						c.(1012-1014)gTt>gCt		toll-like receptor 4							58	65	63					9																	120475419		2202	4300	6502	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120475419T>C	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"CD molecules"	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1013T>C	9.37:g.120475419T>C	ENSP00000363089:p.Val338Ala					TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.V298A	p.V338A	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN			3	1114	+			338					A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.1013T>C	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	T	10.68	1.417180	0.25552	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.20598	2.06;2.06	5.78	-1.28	0.09318	.	1.527470	0.03523	N	0.221283	T	0.20861	0.0502	L	0.50333	1.59	0.09310	N	1	B	0.28850	0.225	B	0.33392	0.163	T	0.31475	-0.9942	10	0.37606	T	0.19	.	4.7753	0.13176	0.238:0.406:0.0:0.356	.	338	O00206	TLR4_HUMAN	A	298;338	ENSP00000377997:V298A;ENSP00000363089:V338A	ENSP00000363089:V338A	V	+	2	0	TLR4	119515240	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.573000	0.23699	0.092000	0.17331	0.533000	0.62120	GTT		0.338	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		14	60	0	0	0	0.00244969	0	14	60					C	120475419	T	C	120475419	3	2	58	1	0	0	0	0	1	0	0	0	15950	1725	60	3	1023	3	TLR4	9	120475419	Missense_Mutation	SNP	T	TCGA-DE-A2OL-01A-11D-A18F-08		120475419	20738012	8	1373											
TUBB2C	10383	broad.mit.edu	37	chr9	140137041	140137041	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggatgttgtgagaaaggaggCtgagagctgtgactgcctgc	17	6	0	3			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr9:140137041C>G	ENST00000340384.4	+	4	519	c.371C>G	c.(370-372)gCt>gGt	p.A124G		NM_006088.5	NP_006079.1	P68371	TBB4B_HUMAN	tubulin, beta 4B class IVb	124					'de novo' posttranslational protein folding (GO:0051084)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|unfolded protein binding (GO:0051082)									Albendazole(DB00518)|Mebendazole(DB00643)	AGAAAGGAGGCTGAGAGCTGT	0.617																																						ENST00000340384.4																			0											c.(370-372)gCt>gGt		tubulin, beta 4B class IVb							74	74	74					9																	140137041		2203	4300	6503	SO:0001583	missense	10383				'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding	g.chr9:140137041C>G	BC019359	CCDS7039.1	9q34.3	2011-10-10	2011-10-10	2011-10-10	ENSG00000188229	ENSG00000188229		"Tubulins"	20771	protein-coding gene	gene with protein product	"class IVb beta-tubulin"	602660	"tubulin, beta 2C"	TUBB2C		3999141	Standard	NM_006088		Approved	Beta2	uc004cmh.1	P68371	OTTHUMG00000131783	ENST00000340384.4:c.371C>G	9.37:g.140137041C>G	ENSP00000341289:p.Ala124Gly						p.A124G	NM_006088.5	NP_006079.1	P68371	TBB2C_HUMAN			4	519	+			124					A2BFA2|P05217	Missense_Mutation	SNP	ENST00000340384.4	37	c.371C>G	CCDS7039.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503458	0.44558	.	.	ENSG00000188229	ENST00000340384	T	0.71222	-0.55	5.07	4.11	0.48088	.	0.202562	0.29653	N	0.011542	D	0.86138	0.5861	H	0.98951	4.38	0.54753	D	0.999982	B	0.30211	0.273	B	0.42593	0.392	D	0.89167	0.3534	10	0.87932	D	0	.	13.0161	0.58757	0.1618:0.8382:0.0:0.0	.	124	P68371	TBB4B_HUMAN	G	124	ENSP00000341289:A124G	ENSP00000341289:A124G	A	+	2	0	TUBB2C	139256862	0.995000	0.38212	0.982000	0.44146	0.990000	0.78478	3.243000	0.51392	2.359000	0.80004	0.655000	0.94253	GCT		0.617	TUBB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254715.1	NM_006088		26	46	0	0	0	0.00395357	0	26	46					G	140137041	C	G	140137041	3	3	58	1	0	0	0	0	1	0	0	0	16753	797	28	4	385	4	TUBB2C	9	140137041	Missense_Mutation	SNP	C	TCGA-DE-A2OL-01A-11D-A18F-08	19661622	140137041	1076390	9	1374											
OTUB1	55611	broad.mit.edu	37	chr11	63764532	63764532	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggctgcagttcatggaccTgattgagcaggtggagaagc	16	7	1	3			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr11:63764532T>C	ENST00000538426.1	+	6	478	c.434T>C	c.(433-435)cTg>cCg	p.L145P	OTUB1_ENST00000543004.1_Missense_Mutation_p.L154P|OTUB1_ENST00000541478.1_Missense_Mutation_p.L44P|OTUB1_ENST00000535715.1_Missense_Mutation_p.L145P|OTUB1_ENST00000422031.2_Missense_Mutation_p.L182P|OTUB1_ENST00000428192.2_Missense_Mutation_p.L145P|OTUB1_ENST00000543988.1_Missense_Mutation_p.L115P	NM_017670.2	NP_060140.2	Q96FW1	OTUB1_HUMAN	OTU deubiquitinase, ubiquitin aldehyde binding 1	145	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|immune system process (GO:0002376)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein K48-linked deubiquitination (GO:0071108)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	NEDD8-specific protease activity (GO:0019784)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						TTCATGGACCTGATTGAGCAG	0.617																																						ENST00000541478.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						c.(130-132)cTg>cCg		OTU domain, ubiquitin aldehyde binding 1							121	105	111					11																	63764532		2201	4297	6498	SO:0001583	missense	55611				protein K48-linked deubiquitination	cytoplasm	NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity	g.chr11:63764532T>C	AY177200	CCDS8055.1	11q13.1	2014-02-24	2014-02-24			ENSG00000167770		"OTU domain containing"	23077	protein-coding gene	gene with protein product		608337	"OTU domain, ubiquitin aldehyde binding 1"			12704427, 19383985	Standard	NM_017670		Approved	FLJ20113, FLJ40710	uc001nyf.1	Q96FW1		ENST00000538426.1:c.434T>C	11.37:g.63764532T>C	ENSP00000444357:p.Leu145Pro					OTUB1_ENST00000535715.1_Missense_Mutation_p.L145P|OTUB1_ENST00000422031.2_Missense_Mutation_p.L182P|OTUB1_ENST00000543988.1_Missense_Mutation_p.L115P|OTUB1_ENST00000428192.2_Missense_Mutation_p.L145P|OTUB1_ENST00000538426.1_Missense_Mutation_p.L145P|OTUB1_ENST00000543004.1_Missense_Mutation_p.L154P	p.L44P			Q96FW1	OTUB1_HUMAN			3	591	+			145					Q32Q78|Q96II3|Q9NXQ4|Q9P0B8	Missense_Mutation	SNP	ENST00000538426.1	37	c.131T>C	CCDS8055.1	.	.	.	.	.	.	.	.	.	.	T	17.69	3.452811	0.63290	.	.	ENSG00000167770	ENST00000541478;ENST00000535715;ENST00000428192;ENST00000422031;ENST00000538426;ENST00000543004;ENST00000543988	T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71	4.9	4.9	0.64082	Ovarian tumour, otubain (1);	0.082410	0.49916	D	0.000137	T	0.72526	0.3471	M	0.88704	2.975	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.998	T	0.78135	-0.2322	10	0.62326	D	0.03	.	13.9457	0.64082	0.0:0.0:0.0:1.0	.	182;44;189;145	B4DPD5;F5H3F0;Q96FW1-2;Q96FW1	.;.;.;OTUB1_HUMAN	P	44;145;145;182;145;154;115	ENSP00000439142:L44P;ENSP00000440211:L145P;ENSP00000402551:L145P;ENSP00000416973:L182P;ENSP00000444357:L145P;ENSP00000437453:L154P;ENSP00000441328:L115P	ENSP00000416973:L182P	L	+	2	0	OTUB1	63521108	1.000000	0.71417	1.000000	0.80357	0.398000	0.30690	5.853000	0.69496	2.196000	0.70406	0.533000	0.62120	CTG		0.617	OTUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396277.1	NM_017670		3	84	0	0	0	6.4e-05	0	3	84					C	63764532	T	C	63764532	3	2	58	1	0	0	0	0	1	0	0	0	11311	1580	55	3	456	3	OTUB1	11	63764532	Missense_Mutation	SNP	T	TCGA-DE-A2OL-01A-11D-A18F-08		63764532	71241984	10	1375											
FOXM1	2305	broad.mit.edu	37	chr12	2983216	2983216	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acatccctagctgcaggtttTggtcccaaggtctccagggt	11	12	1	0			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr12:2983216T>G	ENST00000359843.3	-	2	497	c.429A>C	c.(427-429)ccA>ccC	p.P143P	FOXM1_ENST00000537018.1_5'UTR|FOXM1_ENST00000342628.2_Silent_p.P143P|FOXM1_ENST00000361953.3_Silent_p.P143P	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	143					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|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 double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			CTGCAGGTTTTGGTCCCAAGG	0.572																																						ENST00000342628.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24						c.(427-429)ccA>ccC		forkhead box M1							190	185	187					12																	2983216		2203	4300	6503	SO:0001819	synonymous_variant	2305				cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding	g.chr12:2983216T>G	Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"Forkhead boxes"	3818	protein-coding gene	gene with protein product	"M-phase phosphoprotein 2"	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.429A>C	12.37:g.2983216T>G						FOXM1_ENST00000361953.3_Silent_p.P143P|FOXM1_ENST00000359843.3_Silent_p.P143P|FOXM1_ENST00000537018.1_5'UTR	p.P143P	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000622)		2	542	-			143					O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Silent	SNP	ENST00000359843.3	37	c.429A>C	CCDS8515.1																																																																																				0.572	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953		3	134	0	0	0	6.4e-05	0	3	134					G	2983216	T	G	2983216	2	3	58	1	0	0	0	0	0	0	0	1	6018	1799	63	5		5	FOXM1	12	2983216	Silent	SNP	T	TCGA-DE-A2OL-01A-11D-A18F-08		2983216	130868679	11	1376											
TEAD4	7004	broad.mit.edu	37	chr12	3127744	3127744	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctttgccaggccaagccggaAcgtcccatgagtgagtatgg	13	11	0	2			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr12:3127744A>T	ENST00000397122.2	+	5	415	c.130A>T	c.(130-132)Acg>Tcg	p.T44S	TEAD4_ENST00000359864.2_Missense_Mutation_p.T173S|TEAD4_ENST00000358409.2_Missense_Mutation_p.T130S	NM_201443.2	NP_958851.1	Q15561	TEAD4_HUMAN	TEA domain family member 4	173					gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			CCAAGCCGGAACGTCCCATGA	0.582																																						ENST00000359864.2																			0				endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10						c.(517-519)Acg>Tcg		TEA domain family member 4							125	109	114					12																	3127744		2203	4300	6503	SO:0001583	missense	7004				hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:3127744A>T	X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000397122.2:c.130A>T	12.37:g.3127744A>T	ENSP00000380311:p.Thr44Ser					TEAD4_ENST00000358409.2_Missense_Mutation_p.T130S|TEAD4_ENST00000397122.2_Missense_Mutation_p.T44S	p.T173S	NM_003213.3	NP_003204.2	Q15561	TEAD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)		7	707	+	Ovarian(42;0.211)		173					H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Missense_Mutation	SNP	ENST00000397122.2	37	c.517A>T	CCDS41737.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.600|7.600	0.672587|0.672587	0.14776|0.14776	.|.	.|.	ENSG00000197905|ENSG00000197905	ENST00000544666|ENST00000358409;ENST00000359864;ENST00000543035;ENST00000397122	.|T;T;T	.|0.29397	.|1.57;1.57;1.57	5.36|5.36	1.42|1.42	0.22433|0.22433	.|.	.|0.489617	.|0.22311	.|N	.|0.061729	T|T	0.10380|0.10380	0.0254|0.0254	N|N	0.10837|0.10837	0.055|0.055	0.27204|0.27204	N|N	0.960085|0.960085	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.22977|0.22977	-1.0201|-1.0201	6|10	0.87932|0.07325	D|T	0|0.83	-1.2787|-1.2787	1.5158|1.5158	0.02506|0.02506	0.5249:0.1429:0.0893:0.243|0.5249:0.1429:0.0893:0.243	.|.	.|173	.|Q15561	.|TEAD4_HUMAN	I|S	95|130;173;173;44	.|ENSP00000351184:T130S;ENSP00000352926:T173S;ENSP00000380311:T44S	ENSP00000411475:N108I|ENSP00000351184:T130S	N|T	+|+	2|1	0|0	TEAD4|TEAD4	2998005|2998005	0.749000|0.749000	0.28305|0.28305	0.972000|0.972000	0.41901|0.41901	0.944000|0.944000	0.59088|0.59088	0.730000|0.730000	0.26043|0.26043	0.326000|0.326000	0.23384|0.23384	0.533000|0.533000	0.62120|0.62120	AAC|ACG		0.582	TEAD4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398477.1	NM_003213		18	45	0	0	0	0.00121646	0	18	45					T	3127744	A	T	3127744	3	4	58	1	0	0	0	0	1	0	0	0	15738	43	2	5	535	5	TEAD4	12	3127744	Missense_Mutation	SNP	A	TCGA-DE-A2OL-01A-11D-A18F-08	144528	3127744	130724151	12	1377											
DOK6	220164	broad.mit.edu	37	chr18	67231729	67231729	+	Frame_Shift_Del	DEL	A	A	-													ttatttgctttcagattttcAgacgatgctggttggttttc							TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr18:67231729delA	ENST00000382713.5	+	2	263	c.73delA	c.(73-75)agafs	p.R26fs	RP11-465I4.2_ENST00000583991.1_RNA	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	26	PH.									central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				TCAGATTTTCAGACGATGCTG	0.328																																						ENST00000382713.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20						c.(73-75)gafs		docking protein 6							80	79	79					18																	67231729		2203	4300	6503	SO:0001589	frameshift_variant	220164						insulin receptor binding	g.chr18:67231729delA	AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"Pleckstrin homology (PH) domain containing"	28301	protein-coding gene	gene with protein product		611402	"docking protein 5-like"	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.73delA	18.37:g.67231729delA	ENSP00000372160:p.Arg26fs					RP11-465I4.2_ENST00000583991.1_RNA	p.R26fs	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN			2	263	+		Colorectal(73;0.083)|Esophageal squamous(42;0.131)	26			PH.		A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Frame_Shift_Del	DEL	ENST00000382713.5	37	c.73delA	CCDS32841.1																																																																																				0.328	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442969.1	NM_152721		18	23						18	23	---	---	---	---	-	67231729	A	-	67231729	7	5	58	1	0	1	0	1	0	0	0	0	4701	180	7	0	79	0	DOK6	18	67231729	Frame_Shift_Del	DEL	A	TCGA-DE-A2OL-01A-11D-A18F-08		67231729	10845519	13	1378											
UBASH3A	53347	broad.mit.edu	37	chr21	43838718	43838718	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgacacgtgggtgaagcacaGgtgagtgctgcctctggctg	16	9	1	3			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr21:43838718G>T	ENST00000319294.6	+	7	1077	c.1046G>T	c.(1045-1047)aGg>aTg	p.R349M	RNU6-1149P_ENST00000516810.1_RNA|UBASH3A_ENST00000291535.6_Splice_Site_p.R311M|UBASH3A_ENST00000398367.1_Splice_Site_p.R311M	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	349					negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GTGAAGCACAGGTGAGTGCTG	0.582																																						ENST00000319294.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						c.e7+1		ubiquitin associated and SH3 domain containing A							28	30	29					21																	43838718		2203	4300	6503	SO:0001630	splice_region_variant	53347					cytosol|nucleus		g.chr21:43838718G>T	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.1046+1G>T	21.37:g.43838718G>T						UBASH3A_ENST00000291535.6_Splice_Site_p.R311_splice|UBASH3A_ENST00000398367.1_Splice_Site_p.R311_splice	p.R349_splice	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN			7	1077	+			349					G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Splice_Site	SNP	ENST00000319294.6	37	c.1046_splice	CCDS13687.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955041	0.73902	.	.	ENSG00000160185	ENST00000291535;ENST00000319294;ENST00000398367	T;T;T	0.10860	3.0;2.99;2.83	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000001	T	0.22666	0.0547	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.03139	-1.1068	10	0.54805	T	0.06	-36.5097	18.9442	0.92615	0.0:0.0:1.0:0.0	.	311;311;349	G5E9E4;P57075-2;P57075	.;.;UBS3A_HUMAN	M	311;349;311	ENSP00000291535:R311M;ENSP00000317327:R349M;ENSP00000381408:R311M	ENSP00000291535:R311M	R	+	2	0	UBASH3A	42711787	1.000000	0.71417	1.000000	0.80357	0.425000	0.31504	7.087000	0.76893	2.466000	0.83321	0.591000	0.81541	AGG		0.582	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895	Missense_Mutation	13	17	1	0	4.36969e-10	0.00185496	1.60989e-09	13	17					T	43838718	G	T	43838718	5	4	58	1	0	0	0	0	0	0	1	0	16836	1014	35	4	1072	4	UBASH3A	21	43838718	Splice_Site	SNP	G	TCGA-DE-A2OL-01A-11D-A18F-08		43838718	4291177	14	1379											
DOCK7	85440	broad.mit.edu	37	chr1	63113974	63113974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatctattgacattgaacGtcttttaaggtcatcctgtc	6	9	4	2			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr1:63113974G>A	ENST00000340370.5	-	6	552	c.535C>T	c.(535-537)Cgt>Tgt	p.R179C	DOCK7_ENST00000251157.5_Missense_Mutation_p.R179C|DOCK7_ENST00000404627.2_Missense_Mutation_p.R179C	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	179					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GACATTGAACGTCTTTTAAGG	0.299																																						ENST00000251157.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(535-537)Cgt>Tgt		dedicator of cytokinesis 7							46	47	47					1																	63113974		2190	4294	6484	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63113974G>A		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.535C>T	1.37:g.63113974G>A	ENSP00000340742:p.Arg179Cys					DOCK7_ENST00000404627.2_Missense_Mutation_p.R179C|DOCK7_ENST00000340370.5_Missense_Mutation_p.R179C	p.R179C	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN			6	568	-			179					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.535C>T	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.620921	0.28889	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000404627	T;T;T	0.21361	2.42;2.42;2.01	4.53	3.56	0.40772	.	0.000000	0.85682	D	0.000000	T	0.05318	0.0141	N	0.05510	-0.035	0.80722	D	1	B;B;B;B;B	0.19706	0.038;0.018;0.012;0.021;0.023	B;B;B;B;B	0.12837	0.006;0.004;0.008;0.008;0.008	T	0.14062	-1.0486	10	0.45353	T	0.12	.	13.9696	0.64230	0.0:0.0:0.8481:0.1519	.	179;179;179;179;179	Q96NI0;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.;.	C	179	ENSP00000251157:R179C;ENSP00000340742:R179C;ENSP00000384446:R179C	ENSP00000251157:R179C	R	-	1	0	DOCK7	62886562	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.770000	0.47662	2.333000	0.79357	0.462000	0.41574	CGT		0.299	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		25	74	0	0	0	0.740014	0	25	74					A	63113974	G	A	63113974	3	1	59	1	0	0	0	0	1	0	0	0	4692	1145	40	1	5970	1	DOCK7	1	63113974	Missense_Mutation	SNP	G	TCGA-DE-A3KN-01A-11D-A20C-08		63113974	186136647	1	1380											
TANC1	85461	broad.mit.edu	37	chr2	160087162	160087162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagagcaatcctccaagccGcagctggcactgtccggcac	11	16	0	1	rs527832498		TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr2:160087162G>A	ENST00000263635.6	+	27	5462	c.5225G>A	c.(5224-5226)cGc>cAc	p.R1742H	TANC1_ENST00000454300.1_Missense_Mutation_p.R1636H	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1742					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CCTCCAAGCCGCAGCTGGCAC	0.582													G|||	1	0.000199681	0	0	5008	,	,		19402	0.001		0	False		,,,				2504	0					ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(5224-5226)cGc>cAc		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							74	83	80					2																	160087162		2066	4203	6269	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160087162G>A	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29364	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.5225G>A	2.37:g.160087162G>A	ENSP00000263635:p.Arg1742His					TANC1_ENST00000454300.1_Missense_Mutation_p.R1636H	p.R1742H	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			27	5462	+			1742					C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.5225G>A	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329954	0.60743	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.78364	-1.16;-1.17	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.78451	0.4285	M	0.64997	1.995	0.54753	D	0.999982	D	0.59767	0.986	B	0.43623	0.425	T	0.78409	-0.2215	9	.	.	.	.	19.609	0.95594	0.0:0.0:1.0:0.0	.	1742	Q9C0D5	TANC1_HUMAN	H	1636;1742	ENSP00000396339:R1636H;ENSP00000263635:R1742H	.	R	+	2	0	TANC1	159795408	1.000000	0.71417	0.373000	0.26003	0.100000	0.18952	7.876000	0.87215	2.882000	0.98803	0.655000	0.94253	CGC		0.582	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			4	150	0	0	0	0.184627	0	4	150					A	160087162	G	A	160087162	3	1	59	1	0	0	0	0	1	0	0	0	15541	1087	38	1	5328	1	TANC1	2	160087162	Missense_Mutation	SNP	G	TCGA-DE-A3KN-01A-11D-A20C-08		160087162	83112211	2	1381											
PLXNB1	5364	broad.mit.edu	37	chr3	48453906	48453906	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcaaccaggtcactgaGcagagtgcggaggatgtcag	16	9	2	2			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr3:48453906G>C	ENST00000358536.4	-	26	5247	c.4978C>G	c.(4978-4980)Ctc>Gtc	p.L1660V	PLXNB1_ENST00000358459.4_Missense_Mutation_p.L1477V|PLXNB1_ENST00000456774.1_Missense_Mutation_p.L1477V|PLXNB1_ENST00000296440.6_Missense_Mutation_p.L1660V|PLXNB1_ENST00000448774.2_Missense_Mutation_p.L271V|PLXNB1_ENST00000465117.1_5'Flank	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1660					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGTCACTGAGCAGAGTGCGG	0.607																																						ENST00000358536.4																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(4978-4980)Ctc>Gtc		plexin B1							69	65	66					3																	48453906		2203	4300	6503	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48453906G>C	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.4978C>G	3.37:g.48453906G>C	ENSP00000351338:p.Leu1660Val					PLXNB1_ENST00000456774.1_Missense_Mutation_p.L1477V|PLXNB1_ENST00000448774.2_Missense_Mutation_p.L271V|PLXNB1_ENST00000296440.6_Missense_Mutation_p.L1660V|PLXNB1_ENST00000358459.4_Missense_Mutation_p.L1477V	p.L1660V	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	26	5247	-			1660					A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.4978C>G	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177140	0.78564	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000448774;ENST00000456774	T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29	5.03	4.16	0.48862	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.44912	0.1316	M	0.86097	2.795	0.80722	D	1	D;D	0.89917	0.984;1.0	D;D	0.97110	0.972;1.0	T	0.50964	-0.8765	10	0.62326	D	0.03	.	12.7462	0.57283	0.0792:0.0:0.9208:0.0	.	1660;1477	O43157;O43157-2	PLXB1_HUMAN;.	V	1660;1477;1660;271;1477	ENSP00000296440:L1660V;ENSP00000351242:L1477V;ENSP00000351338:L1660V;ENSP00000389320:L271V;ENSP00000414199:L1477V	ENSP00000296440:L1660V	L	-	1	0	PLXNB1	48428910	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.503000	0.66962	1.340000	0.45581	0.551000	0.68910	CTC		0.607	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		38	113	0	0	0	0.870114	0	38	113					C	48453906	G	C	48453906	3	2	59	1	0	0	0	0	1	0	0	0	12123	971	34	4	1481	4	PLXNB1	3	48453906	Missense_Mutation	SNP	G	TCGA-DE-A3KN-01A-11D-A20C-08		48453906	149568524	3	1382											
VCAN	1462	broad.mit.edu	37	chr5	82816691	82816691	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atggagcagatgaatttactCttattccagatagtactcaa	7	7	2	3			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr5:82816691C>G	ENST00000265077.3	+	7	3131	c.2566C>G	c.(2566-2568)Ctt>Gtt	p.L856V	VCAN_ENST00000512590.2_Missense_Mutation_p.L808V|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.L856V	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	856	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TGAATTTACTCTTATTCCAGA	0.408																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(2566-2568)Ctt>Gtt		versican							99	101	101					5																	82816691		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82816691C>G	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.2566C>G	5.37:g.82816691C>G	ENSP00000265077:p.Leu856Val					VCAN_ENST00000342785.4_Missense_Mutation_p.L856V|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.L808V	p.L856V	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	3131	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	856			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.2566C>G	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.532058	0.00145	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	T;T;T	0.19938	2.11;2.11;2.11	5.95	1.96	0.26148	.	1.078290	0.07118	N	0.843383	T	0.16342	0.0393	L	0.43152	1.355	0.09310	N	0.999999	B;B	0.18610	0.029;0.024	B;B	0.18561	0.013;0.022	T	0.36625	-0.9740	10	0.02654	T	1	.	9.2158	0.37346	0.0:0.5019:0.4202:0.0779	.	856;856	P13611-3;P13611	.;CSPG2_HUMAN	V	856;856;808	ENSP00000265077:L856V;ENSP00000342768:L856V;ENSP00000425959:L808V	ENSP00000265077:L856V	L	+	1	0	VCAN	82852447	0.001000	0.12720	0.023000	0.16930	0.146000	0.21551	0.110000	0.15437	0.380000	0.24823	0.650000	0.86243	CTT		0.408	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		40	84	0	0	0	0.847076	0	40	84					G	82816691	C	G	82816691	3	3	59	1	0	0	0	0	1	0	0	0	17135	913	32	4	2588	4	VCAN	5	82816691	Missense_Mutation	SNP	C	TCGA-DE-A3KN-01A-11D-A20C-08		82816691	98098569	4	1383											
RBM27	54439	broad.mit.edu	37	chr5	145649072	145649072	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgaaagagcttggagagaaGatctcacaattaaaagatga	10	4	1	6			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr5:145649072G>T	ENST00000265271.5	+	17	2782	c.2616G>T	c.(2614-2616)aaG>aaT	p.K872N	RBM27_ENST00000506502.1_Missense_Mutation_p.K817N	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	872					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGGAGAGAAGATCTCACAAT	0.299																																						ENST00000265271.5																			0				NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(2614-2616)aaG>aaT		RNA binding motif protein 27							76	71	72					5																	145649072		1568	3582	5150	SO:0001583	missense	54439				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr5:145649072G>T	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	29243	protein-coding gene	gene with protein product	"acidic rich RS domain containing 1"					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.2616G>T	5.37:g.145649072G>T	ENSP00000265271:p.Lys872Asn					RBM27_ENST00000506502.1_Missense_Mutation_p.K817N	p.K872N	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		17	2782	+			872					Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	c.2616G>T	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.931221	0.34096	.	.	ENSG00000091009	ENST00000265271	T	0.47528	0.84	5.78	3.69	0.42338	.	0.000000	0.85682	D	0.000000	T	0.52256	0.1723	L	0.42245	1.32	0.53688	D	0.999974	D	0.71674	0.998	D	0.76071	0.987	T	0.48559	-0.9025	10	0.18276	T	0.48	-15.821	6.5703	0.22535	0.3546:0.0:0.6454:0.0	.	872	Q9P2N5	RBM27_HUMAN	N	872	ENSP00000265271:K872N	ENSP00000265271:K872N	K	+	3	2	RBM27	145629265	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.912000	0.48782	1.452000	0.47756	0.655000	0.94253	AAG		0.299	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		3	47	1	0	0.115264	0.115264	0.132997	3	47					T	145649072	G	T	145649072	3	4	59	1	0	0	0	0	1	0	0	0	13127	933	33	4	2682	4	RBM27	5	145649072	Missense_Mutation	SNP	G	TCGA-DE-A3KN-01A-11D-A20C-08	62832381	145649072	35266188	5	1384											
KAAG1	353219	broad.mit.edu	37	chr6	24358038	24358038	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggaggcacctccgctgtcCcagcggcctcaccgcaccca	11	20	1	0			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr6:24358038C>T	ENST00000274766.1	+	1	908	c.171C>T	c.(169-171)tcC>tcT	p.S57S	DCDC2_ENST00000378454.3_5'UTR	NM_181337.3	NP_851854.1	Q9UBP8	KAAG1_HUMAN	kidney associated antigen 1	57					immune response (GO:0006955)					central_nervous_system(1)|lung(1)|prostate(1)	3						CTCCGCTGTCCCAGCGGCCTC	0.672																																						ENST00000274766.1																			0				central_nervous_system(1)|lung(1)|prostate(1)	3						c.(169-171)tcC>tcT		kidney associated antigen 1							25	28	27					6																	24358038		2201	4291	6492	SO:0001819	synonymous_variant	353219				immune response			g.chr6:24358038C>T	AF181722	CCDS4551.1	6p22.1	2010-11-23			ENSG00000146049	ENSG00000146049			21031	protein-coding gene	gene with protein product		608211				10601354	Standard	NM_181337		Approved	RU2, RU2AS	uc003ndz.1	Q9UBP8	OTTHUMG00000014354	ENST00000274766.1:c.171C>T	6.37:g.24358038C>T						DCDC2_ENST00000378454.3_5'UTR	p.S57S	NM_181337.3	NP_851854.1	Q9UBP8	KAAG1_HUMAN			1	908	+			57						Silent	SNP	ENST00000274766.1	37	c.171C>T	CCDS4551.1																																																																																				0.672	KAAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040001.1			5	47	0	0	0	0.184627	0	5	47					T	24358038	C	T	24358038	2	4	59	1	0	0	0	0	0	0	0	1	7973	610	22	2		2	KAAG1	6	24358038	Silent	SNP	C	TCGA-DE-A3KN-01A-11D-A20C-08		24358038	146757029	6	1385											
SEC63	11231	broad.mit.edu	37	chr6	108230223	108230223	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccactatagcgtattgagCgataccaccaagagccctaa	7	13	0	2			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr6:108230223C>T	ENST00000369002.4	-	8	820	c.641G>A	c.(640-642)cGc>cAc	p.R214H		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	214	SEC63 1.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		GCGTATTGAGCGATACCACCA	0.363																																						ENST00000369002.4																			0				endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(640-642)cGc>cAc		SEC63 homolog (S. cerevisiae)							85	83	84					6																	108230223		2203	4300	6503	SO:0001583	missense	11231				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	g.chr6:108230223C>T	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"Heat shock proteins / DNAJ (HSP40)"	21082	protein-coding gene	gene with protein product		608648	"SEC63-like (S. cerevisiae)"			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.641G>A	6.37:g.108230223C>T	ENSP00000357998:p.Arg214His						p.R214H	NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	8	820	-		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)	214			SEC63 1.		O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Missense_Mutation	SNP	ENST00000369002.4	37	c.641G>A	CCDS5061.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.499092	0.85069	.	.	ENSG00000025796	ENST00000369002;ENST00000423697;ENST00000429168	T;T	0.77620	-1.11;-0.14	5.11	5.11	0.69529	Sec63 domain (2);	0.000000	0.85682	D	0.000000	T	0.80889	0.4710	M	0.61703	1.905	0.80722	D	1	D;D	0.67145	0.996;0.971	D;P	0.65684	0.937;0.714	T	0.81788	-0.0772	10	0.49607	T	0.09	-5.7878	11.9685	0.53049	0.0:0.9204:0.0:0.0796	.	214;214	Q9UGP8;B3KQF0	SEC63_HUMAN;.	H	214;74;158	ENSP00000357998:R214H;ENSP00000403144:R158H	ENSP00000357998:R214H	R	-	2	0	SEC63	108336916	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.726000	0.68515	2.386000	0.81285	0.557000	0.71058	CGC		0.363	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214		3	32	0	0	0	0.115264	0	3	32					T	108230223	C	T	108230223	3	4	59	1	0	0	0	0	1	0	0	0	14005	768	27	1	1697	1	SEC63	6	108230223	Missense_Mutation	SNP	C	TCGA-DE-A3KN-01A-11D-A20C-08	83872185	108230223	62884844	7	1386											
ASL	435	broad.mit.edu	37	chr7	65557066	65557066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgcctattacctggtccGcaaaggggtaagtgtgtagc	12	10	0	0	rs200853731		TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr7:65557066G>A	ENST00000304874.9	+	15	1238	c.1136G>A	c.(1135-1137)cGc>cAc	p.R379H	ASL_ENST00000395331.3_Missense_Mutation_p.R359H|AC068533.7_ENST00000450043.1_Silent_p.P147P|ASL_ENST00000395332.3_Missense_Mutation_p.R379H|ASL_ENST00000380839.4_Missense_Mutation_p.R353H|ASL_ENST00000464970.1_3'UTR	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	379			R -> C (in ARGINSA; dbSNP:rs28940287). {ECO:0000269|PubMed:12408190}.		arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)	p.R379L(1)		breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	TACCTGGTCCGCAAAGGGGTA	0.637																																						ENST00000304874.9																			1	Substitution - Missense(1)	p.R379L(1)	lung(1)	breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18						c.(1135-1137)cGc>cAc		argininosuccinate lyase	L-Arginine(DB00125)						95	92	93					7																	65557066		2203	4300	6503	SO:0001583	missense	435				arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity	g.chr7:65557066G>A		CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.1136G>A	7.37:g.65557066G>A	ENSP00000307188:p.Arg379His					ASL_ENST00000464970.1_3'UTR|ASL_ENST00000395332.3_Missense_Mutation_p.R379H|ASL_ENST00000380839.4_Missense_Mutation_p.R353H|ASL_ENST00000395331.3_Missense_Mutation_p.R359H|AC068533.7_ENST00000450043.1_Silent_p.P147P	p.R379H	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN			15	1238	+			379		R -> C (in ARGINSA; dbSNP:rs28940287).			E7EMI0|E9PE48|Q6LDS5|Q96HS2	Missense_Mutation	SNP	ENST00000304874.9	37	c.1136G>A	CCDS5531.1	.	.	.	.	.	.	.	.	.	.	g	27.0	4.786704	0.90367	.	.	ENSG00000126522	ENST00000304874;ENST00000380839;ENST00000395332;ENST00000395331	D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85	5.5	4.63	0.57726	L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.92909	0.7744	M	0.89601	3.045	0.58432	D	0.999999	P;P;B	0.42871	0.792;0.6;0.445	B;B;B	0.43838	0.433;0.077;0.102	D	0.93527	0.6866	10	0.87932	D	0	.	13.5557	0.61757	0.0753:0.0:0.9247:0.0	.	353;359;379	E9PE48;E7EMI0;P04424	.;.;ARLY_HUMAN	H	379;353;379;359	ENSP00000307188:R379H;ENSP00000370219:R353H;ENSP00000378741:R379H;ENSP00000378740:R359H	ENSP00000307188:R379H	R	+	2	0	ASL	65194501	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.997000	0.63921	1.327000	0.45338	0.491000	0.48974	CGC		0.637	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251695.2	NM_000048		5	275	0	0	0	0.248553	0	5	275					A	65557066	G	A	65557066	3	1	59	1	0	0	0	0	1	0	0	0	1044	1087	38	1	1190	1	ASL	7	65557066	Missense_Mutation	SNP	G	TCGA-DE-A3KN-01A-11D-A20C-08		65557066	93581597	8	1387											
RIMS2	9699	broad.mit.edu	37	chr8	105261745	105261745	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtaggaatgatggacaaaaAgggacagctggaggtagaaa	16	3	0	2			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr8:105261745A>G	ENST00000436393.2	+	26	3915	c.3674A>G	c.(3673-3675)aAg>aGg	p.K1225R	RIMS2_ENST00000406091.3_Missense_Mutation_p.K1207R|RIMS2_ENST00000339750.2_Missense_Mutation_p.K143R|RIMS2_ENST00000507740.1_Missense_Mutation_p.K1021R|RIMS2_ENST00000262231.10_Missense_Mutation_p.K1046R			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1269					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ATGGACAAAAAGGGACAGCTG	0.403										HNSCC(12;0.0054)																												ENST00000507740.1																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(3061-3063)aAg>aGg		regulating synaptic membrane exocytosis 2							72	75	74					8																	105261745		1864	4087	5951	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105261745A>G	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3674A>G	8.37:g.105261745A>G	ENSP00000390665:p.Lys1225Arg	HNSCC(12;0.0054)				RIMS2_ENST00000436393.2_Missense_Mutation_p.K1225R|RIMS2_ENST00000339750.2_Missense_Mutation_p.K143R|RIMS2_ENST00000262231.10_Missense_Mutation_p.K1046R|RIMS2_ENST00000406091.3_Missense_Mutation_p.K1207R	p.K1021R	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		20	3298	+			1269					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.3062A>G		.	.	.	.	.	.	.	.	.	.	A	25.6	4.654243	0.88056	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393;ENST00000523362;ENST00000339750	T;T;T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;0.99;-1.01;-1.01;-1.01	5.6	5.6	0.85130	C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.80768	0.4686	L	0.28192	0.835	0.80722	D	1	P;P;B;D;D	0.53312	0.709;0.839;0.287;0.959;0.959	B;P;P;D;D	0.67382	0.284;0.836;0.651;0.951;0.951	T	0.80589	-0.1315	9	0.38643	T	0.18	.	15.7857	0.78300	1.0:0.0:0.0:0.0	.	1269;1225;1046;1021;1207	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	R	1244;1207;1269;1046;1021;1214;1225;143;143	ENSP00000384892:K1207R;ENSP00000262231:K1046R;ENSP00000423559:K1021R;ENSP00000386228:K1214R;ENSP00000390665:K1225R;ENSP00000428478:K143R;ENSP00000342051:K143R	ENSP00000262231:K1046R	K	+	2	0	RIMS2	105330921	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.306000	0.78905	2.142000	0.66516	0.528000	0.53228	AAG		0.403	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		3	81	0	0	0	0.115264	0	3	81					G	105261745	A	G	105261745	3	3	59	1	0	0	0	0	1	0	0	0	13368	72	3	3	3902	3	RIMS2	8	105261745	Missense_Mutation	SNP	A	TCGA-DE-A3KN-01A-11D-A20C-08		105261745	41102277	9	1388											
MYC	4609	broad.mit.edu	37	chr8	128752882	128752882	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttggacagtgtcagagtccTgagacagatcagcaacaacc	11	10	2	3			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr8:128752882T>C	ENST00000377970.2	+	3	1553	c.1043T>C	c.(1042-1044)cTg>cCg	p.L348P	MYC_ENST00000524013.1_Missense_Mutation_p.L347P	NM_002467.4	NP_002458	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	333					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|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 transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	GTCAGAGTCCTGAGACAGATC	0.572		3	"A, T"	"IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"	"Burkitt lymphoma,  amplified in other cancers, B-CLL"																																	ENST00000377970.2		3		Dom	yes		8	8q24.12-q24.13	4609	"A, T"	v-myc myelocytomatosis viral oncogene homolog (avian)			"L, E"	"IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"		"Burkitt lymphoma,  amplified in other cancers, B-CLL"		0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16						c.(1042-1044)cTg>cCg		v-myc avian myelocytomatosis viral oncogene homolog							92	80	84					8																	128752882		2203	4300	6503	SO:0001583	missense	4609				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:128752882T>C		CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"Basic helix-loop-helix proteins"	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000377970.2:c.1043T>C	8.37:g.128752882T>C	ENSP00000367207:p.Leu348Pro					MYC_ENST00000524013.1_Missense_Mutation_p.L347P	p.L348P	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	3	1553	+	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	333					A8WFE7|P01107|Q14026	Missense_Mutation	SNP	ENST00000377970.2	37	c.1043T>C	CCDS6359.2	.	.	.	.	.	.	.	.	.	.	T	19.01	3.743547	0.69418	.	.	ENSG00000136997	ENST00000377970;ENST00000524013;ENST00000454617	T;T	0.21031	2.03;2.03	5.39	5.39	0.77823	Transcription regulator Myc, N-terminal (1);	0.098604	0.40818	N	0.001014	T	0.37046	0.0989	L	0.38175	1.15	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.12915	-1.0529	10	0.66056	D	0.02	-15.1244	14.5824	0.68300	0.0:0.0:0.0:1.0	.	333	P01106	MYC_HUMAN	P	348;347;314	ENSP00000367207:L348P;ENSP00000430235:L347P	ENSP00000367207:L348P	L	+	2	0	MYC	128822064	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	7.196000	0.77805	2.038000	0.60285	0.528000	0.53228	CTG		0.572	MYC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250277.3			3	77	0	0	0	0.115264	0	3	77					C	128752882	T	C	128752882	3	2	59	1	0	0	0	0	1	0	0	0	10016	1580	55	3	1053	3	MYC	8	128752882	Missense_Mutation	SNP	T	TCGA-DE-A3KN-01A-11D-A20C-08	23491137	128752882	17611140	10	1389											
PDZD7	79955	broad.mit.edu	37	chr10	102778754	102778754	+	Frame_Shift_Del	DEL	C	C	-													actgtgggccgcacgctgcaCcaggtctccacccggcctcc							TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr10:102778754delC	ENST00000370215.3	-	8	1374	c.1149delG	c.(1147-1149)tggfs	p.W383fs		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	383						cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		GCACGCTGCACCAGGTCTCCA	0.741											OREG0020453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000370215.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1147-1149)tgfs		PDZ domain containing 7							9	12	11					10																	102778754		2169	4257	6426	SO:0001589	frameshift_variant	79955					cilium|nucleus	protein binding	g.chr10:102778754delC	AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.1149delG	10.37:g.102778754delC	ENSP00000359234:p.Trp383fs		OREG0020453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1369		p.W383fs	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)	8	1374	-			383					D5FJ77|Q8N321	Frame_Shift_Del	DEL	ENST00000370215.3	37	c.1149delG	CCDS31269.1																																																																																				0.741	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	NM_024895		2	4						2	4	---	---	---	---	-	102778754	C	-	102778754	7	5	59	1	0	1	0	1	0	0	0	0	11704	508	18	0	416	0	PDZD7	10	102778754	Frame_Shift_Del	DEL	C	TCGA-DE-A3KN-01A-11D-A20C-08		102778754	32755993	11	1390											
ARFIP2	23647	broad.mit.edu	37	chr11	6499070	6499070	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	accacgtgtccctgcatcccGggggcctagactcagctcct	10	17	1	1			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr11:6499070G>C	ENST00000254584.2	-	7	831	c.748C>G	c.(748-750)Cgg>Ggg	p.R250G	ARFIP2_ENST00000396777.3_Missense_Mutation_p.R250G|ARFIP2_ENST00000423813.2_Missense_Mutation_p.R212G|ARFIP2_ENST00000445086.2_Missense_Mutation_p.R165G	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	250	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|lamellipodium assembly (GO:0030032)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|Rac GTPase binding (GO:0048365)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCTGCATCCCGGGGGCCTAGA	0.572																																					Melanoma(119;796 1674 9049 20480 24794)	ENST00000254584.2																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15						c.(748-750)Cgg>Ggg		ADP-ribosylation factor interacting protein 2							71	71	71					11																	6499070		2201	4296	6497	SO:0001583	missense	23647				actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding	g.chr11:6499070G>C	BC000392	CCDS7765.1, CCDS55739.1, CCDS55740.1, CCDS73250.1	11p15	2008-08-01	2008-08-01		ENSG00000132254	ENSG00000132254			17160	protein-coding gene	gene with protein product	"arfaptin 2"	601638				8670882, 9038142	Standard	NM_012402		Approved	POR1	uc010ran.2	P53365	OTTHUMG00000133406	ENST00000254584.2:c.748C>G	11.37:g.6499070G>C	ENSP00000254584:p.Arg250Gly					ARFIP2_ENST00000445086.2_Missense_Mutation_p.R165G|ARFIP2_ENST00000423813.2_Missense_Mutation_p.R212G|ARFIP2_ENST00000396777.3_Missense_Mutation_p.R250G	p.R250G	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	7	831	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	250			AH.		B4DX86|B4E306|D3DQT5	Missense_Mutation	SNP	ENST00000254584.2	37	c.748C>G	CCDS7765.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.243019	0.58995	.	.	ENSG00000132254	ENST00000254584;ENST00000396777;ENST00000445086;ENST00000423813	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	4.74	4.74	0.60224	Arfaptin-like (3);	0.052422	0.85682	D	0.000000	D	0.86969	0.6061	M	0.75777	2.31	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.993	D;D;D	0.79784	0.993;0.94;0.985	D	0.85790	0.1367	10	0.33940	T	0.23	.	16.668	0.85258	0.0:0.0:1.0:0.0	.	283;165;250	B4DUZ3;B4E306;P53365	.;.;ARFP2_HUMAN	G	250;250;165;212	ENSP00000254584:R250G;ENSP00000379998:R250G;ENSP00000391427:R165G;ENSP00000398375:R212G	ENSP00000254584:R250G	R	-	1	2	ARFIP2	6455646	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.241000	0.72369	2.472000	0.83506	0.655000	0.94253	CGG		0.572	ARFIP2-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387044.1	NM_012402		3	123	0	0	0	0.150653	0	3	123					C	6499070	G	C	6499070	3	2	59	1	0	0	0	0	1	0	0	0	855	1115	39	4	285	4	ARFIP2	11	6499070	Missense_Mutation	SNP	G	TCGA-DE-A3KN-01A-11D-A20C-08		6499070	128507446	12	1391											
LRRC55	219527	broad.mit.edu	37	chr11	56950058	56950058	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcttgagggcctaccggggCtggtgaccctgcagatcggt	15	12	1	3			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr11:56950058C>G	ENST00000497933.1	+	1	838	c.691C>G	c.(691-693)Ctg>Gtg	p.L231V		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	201	LRRCT.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CCTACCGGGGCTGGTGACCCT	0.642																																						ENST00000497933.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						c.(691-693)Ctg>Gtg		leucine rich repeat containing 55							79	77	78					11																	56950058		2201	4296	6497	SO:0001583	missense	219527					integral to membrane		g.chr11:56950058C>G		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.691C>G	11.37:g.56950058C>G	ENSP00000419542:p.Leu231Val						p.L231V	NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN			1	838	+			201			LRRCT.		A7E2U7|B2RN81	Missense_Mutation	SNP	ENST00000497933.1	37	c.691C>G	CCDS31539.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652906	0.67472	.	.	ENSG00000183908	ENST00000497933	T	0.06449	3.3	5.77	4.86	0.63082	.	0.000000	0.46758	D	0.000279	T	0.33030	0.0849	M	0.92507	3.315	0.47341	D	0.999395	D	0.89917	1.0	D	0.83275	0.996	T	0.41787	-0.9489	10	0.87932	D	0	.	13.605	0.62041	0.0:0.9247:0.0:0.0753	.	201	Q6ZSA7	LRC55_HUMAN	V	231	ENSP00000419542:L231V	ENSP00000419542:L231V	L	+	1	2	LRRC55	56706634	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	2.803000	0.47924	1.441000	0.47550	0.561000	0.74099	CTG		0.642	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		72	138	0	0	0	0.870114	0	72	138					G	56950058	C	G	56950058	3	3	59	1	0	0	0	0	1	0	0	0	9011	796	28	4	693	4	LRRC55	11	56950058	Missense_Mutation	SNP	C	TCGA-DE-A3KN-01A-11D-A20C-08	50450988	56950058	78056458	13	1392											
WNK1	65125	broad.mit.edu	37	chr12	994570	994570	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	actcactagataagacatctCatagcagtacaactggattg	7	9	2	2			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr12:994570C>G	ENST00000315939.6	+	19	5243	c.4600C>G	c.(4600-4602)Cat>Gat	p.H1534D	WNK1_ENST00000535572.1_Missense_Mutation_p.H1287D|WNK1_ENST00000530271.2_Missense_Mutation_p.H2032D|WNK1_ENST00000340908.4_Missense_Mutation_p.H1127D|WNK1_ENST00000537687.1_Missense_Mutation_p.H1794D	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1534					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TAAGACATCTCATAGCAGTAC	0.483																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(5380-5382)Cat>Gat		WNK lysine deficient protein kinase 1							425	378	394					12																	994570		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:994570C>G	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.4600C>G	12.37:g.994570C>G	ENSP00000313059:p.His1534Asp					WNK1_ENST00000535572.1_Missense_Mutation_p.H1287D|WNK1_ENST00000340908.4_Missense_Mutation_p.H1127D|WNK1_ENST00000530271.2_Missense_Mutation_p.H2032D|WNK1_ENST00000315939.6_Missense_Mutation_p.H1534D	p.H1794D	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		19	6023	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1534					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.5380C>G	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	C	6.388	0.439738	0.12104	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65	5.3	2.22	0.28083	.	0.611588	0.16305	N	0.220291	T	0.36413	0.0966	L	0.44542	1.39	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.23547	-1.0185	10	0.39692	T	0.17	-3.4467	8.0376	0.30502	0.0:0.6162:0.2443:0.1396	.	1287;1287;1534	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	D	1287;1534;1794;707;2032;1127	ENSP00000441972:H1287D;ENSP00000313059:H1534D;ENSP00000444465:H1794D;ENSP00000433548:H2032D;ENSP00000341292:H1127D	ENSP00000252477:H707D	H	+	1	0	WNK1	864831	0.001000	0.12720	0.458000	0.27068	0.330000	0.28571	0.559000	0.23485	0.695000	0.31675	0.655000	0.94253	CAT		0.483	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		7	689	0	0	0	0.361761	0	7	689					G	994570	C	G	994570	3	3	59	1	0	0	0	0	1	0	0	0	17374	826	29	4	6176	4	WNK1	12	994570	Missense_Mutation	SNP	C	TCGA-DE-A3KN-01A-11D-A20C-08		994570	132857325	14	1393											
SLITRK1	114798	broad.mit.edu	37	chr13	84455509	84455509	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagacttgtgaagcccTttttttcacagtctacgtgt	9	10	2	2			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr13:84455509T>C	ENST00000377084.2	-	1	1019	c.134A>G	c.(133-135)aAg>aGg	p.K45R		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	45	LRRNT 1.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.K45fs*64(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TGTGAAGCCCTTTTTTTCACA	0.463																																						ENST00000377084.2																			1	Deletion - Frameshift(1)	p.K45fs*64(1)	large_intestine(1)	NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80						c.(133-135)aAg>aGg		SLIT and NTRK-like family, member 1							90	89	89					13																	84455509		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84455509T>C	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.134A>G	13.37:g.84455509T>C	ENSP00000366288:p.Lys45Arg						p.K45R	NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	1019	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	45			LRRNT.		Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.134A>G	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	T	3.734	-0.054985	0.07362	.	.	ENSG00000178235	ENST00000377084	T	0.51817	0.69	4.59	4.59	0.56863	.	0.103397	0.64402	D	0.000003	T	0.26810	0.0656	N	0.10809	0.05	0.41694	D	0.989363	B	0.09022	0.002	B	0.16722	0.016	T	0.09997	-1.0649	10	0.09338	T	0.73	-14.5951	13.2304	0.59941	0.0:0.0:0.0:1.0	.	45	Q96PX8	SLIK1_HUMAN	R	45	ENSP00000366288:K45R	ENSP00000366288:K45R	K	-	2	0	SLITRK1	83353510	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.889000	0.48601	2.050000	0.60909	0.459000	0.35465	AAG		0.463	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		3	107	0	0	0	0.115264	0	3	107					C	84455509	T	C	84455509	3	2	59	1	0	0	0	0	1	0	0	0	14742	1609	56	3	1960	3	SLITRK1	13	84455509	Missense_Mutation	SNP	T	TCGA-DE-A3KN-01A-11D-A20C-08		84455509	30714369	15	1394											
SOX21	11166	broad.mit.edu	37	chr13	95363807	95363809	+	In_Frame_Del	DEL	GCG	GCG	-													gcagcgagtaggggctgcccGcggcggcggcggcggcggca							TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr13:95363807_95363809delGCG	ENST00000376945.2	-	1	580_582	c.495_497delCGC	c.(493-498)gccgcg>gcg	p.165_166AA>A	SOX21-AS1_ENST00000438290.2_lincRNA	NM_007084.2	NP_009015.1	Q9Y651	SOX21_HUMAN	SRY (sex determining region Y)-box 21	165					hair follicle development (GO:0001942)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6	all_neural(89;0.0646)|Medulloblastoma(90;0.163)					GGGGCTGCCCgcggcggcggcgg	0.759																																						ENST00000376945.2																			0				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						c.(493-498)gcg>gc		SRY (sex determining region Y)-box 21				19,1083		6,7,538						-1.7	0.8			3	54,2402		9,36,1183	no	coding	SOX21	NM_007084.2		15,43,1721	A1A1,A1R,RR		2.1987,1.7241,2.0517				73,3485				SO:0001651	inframe_deletion	11166				regulation of transcription from RNA polymerase II promoter|stem cell differentiation	nucleus	DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr13:95363807_95363809delGCG	AF107044	CCDS9473.1	13q31-q32	2008-07-18			ENSG00000125285	ENSG00000125285		"SRY (sex determining region Y)-boxes"	11197	protein-coding gene	gene with protein product	"SRY-box 21"	604974				10441749	Standard	NM_007084		Approved	SOX25	uc001vma.3	Q9Y651	OTTHUMG00000017209	ENST00000376945.2:c.495_497delCGC	13.37:g.95363816_95363818delGCG	ENSP00000366144:p.Ala166del						p.AA165del	NM_007084.2	NP_009015.1	Q9Y651	SOX21_HUMAN			1	580_582	-	all_neural(89;0.0646)|Medulloblastoma(90;0.163)		165					P35715|Q15504|Q5TBS1	In_Frame_Del	DEL	ENST00000376945.2	37	c.495_497delCGC	CCDS9473.1																																																																																				0.759	SOX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045467.4	NM_007084		2	4						2	4	---	---	---	---	-	95363809	GCG	-	95363807	7	5	59	1	0	1	0	1	0	0	0	0	14950	1087	38	0	337	0	SOX21	13	95363807	In_Frame_Del	DEL	GCG	TCGA-DE-A3KN-01A-11D-A20C-08	10908298	95363807	19806071	16	1395											
DYNC1H1	1778	broad.mit.edu	37	chr14	102509075	102509075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcattcccgtctcacGgatatgcaaggtaagtacct	9	12	1	0			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr14:102509075G>A	ENST00000360184.4	+	69	12667	c.12503G>A	c.(12502-12504)cGg>cAg	p.R4168Q	RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4168	AAA 6. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CCCGTCTCACGGATATGCAAG	0.577																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(12502-12504)cGg>cAg		dynein, cytoplasmic 1, heavy chain 1							100	75	83					14																	102509075		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102509075G>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.12503G>A	14.37:g.102509075G>A	ENSP00000348965:p.Arg4168Gln					RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	p.R4168Q	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			69	12667	+			4168			AAA 6 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.12503G>A	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473699	0.84640	.	.	ENSG00000197102	ENST00000360184	T	0.09073	3.02	6.07	6.07	0.98685	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.28200	0.0696	M	0.82132	2.575	0.80722	D	1	D	0.76494	0.999	P	0.58266	0.836	T	0.01056	-1.1466	10	0.21540	T	0.41	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	4168	Q14204	DYHC1_HUMAN	Q	4168	ENSP00000348965:R4168Q	ENSP00000348965:R4168Q	R	+	2	0	DYNC1H1	101578828	1.000000	0.71417	0.039000	0.18376	0.780000	0.44128	9.776000	0.99001	2.884000	0.98904	0.655000	0.94253	CGG		0.577	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		35	45	0	0	0	0.819951	0	35	45					A	102509075	G	A	102509075	3	1	59	1	0	0	0	0	1	0	0	0	4841	1116	39	1	12777	1	DYNC1H1	14	102509075	Missense_Mutation	SNP	G	TCGA-DE-A3KN-01A-11D-A20C-08		102509075	4840465	17	1396											
HMOX2	3163	broad.mit.edu	37	chr16	4558163	4558163	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aacatgaagaccaaagagagGatcgtggaggaggccaacaa	13	7	0	3			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr16:4558163G>C	ENST00000570646.1	+	4	1259	c.654G>C	c.(652-654)agG>agC	p.R218S	HMOX2_ENST00000414777.1_Missense_Mutation_p.R218S|HMOX2_ENST00000575120.1_Missense_Mutation_p.R189S|HMOX2_ENST00000458134.3_Missense_Mutation_p.R218S|HMOX2_ENST00000219700.6_Missense_Mutation_p.R218S|HMOX2_ENST00000398595.3_Missense_Mutation_p.R218S|HMOX2_ENST00000406590.2_Missense_Mutation_p.R218S	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2	218					cellular iron ion homeostasis (GO:0006879)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|porphyrin-containing compound metabolic process (GO:0006778)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						CCAAAGAGAGGATCGTGGAGG	0.522																																						ENST00000570646.1																			0				endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(652-654)agG>agC		heme oxygenase (decycling) 2	NADH(DB00157)						84	79	81					16																	4558163		2197	4300	6497	SO:0001583	missense	3163				cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport	endoplasmic reticulum membrane|microsome|plasma membrane	electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding	g.chr16:4558163G>C		CCDS10517.1, CCDS66931.1, CCDS73818.1	16p13.3	2008-02-05			ENSG00000103415	ENSG00000103415	1.14.99.3		5014	protein-coding gene	gene with protein product		141251				1575508	Standard	NM_002134		Approved	HO-2	uc002cwq.4	P30519	OTTHUMG00000129473	ENST00000570646.1:c.654G>C	16.37:g.4558163G>C	ENSP00000459214:p.Arg218Ser					HMOX2_ENST00000458134.3_Missense_Mutation_p.R218S|HMOX2_ENST00000219700.6_Missense_Mutation_p.R218S|HMOX2_ENST00000575120.1_Missense_Mutation_p.R189S|HMOX2_ENST00000406590.2_Missense_Mutation_p.R218S|HMOX2_ENST00000398595.3_Missense_Mutation_p.R218S|HMOX2_ENST00000414777.1_Missense_Mutation_p.R218S	p.R218S	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN			4	1259	+			218					A8MT35|D3DUD5|I3L430|O60605	Missense_Mutation	SNP	ENST00000570646.1	37	c.654G>C	CCDS10517.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.150719	0.37923	.	.	ENSG00000103415	ENST00000406590;ENST00000458134;ENST00000219700;ENST00000414777;ENST00000398595	T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87	5.57	0.912	0.19349	Haem oxygenase-like, multi-helical (2);	0.254184	0.50627	D	0.000117	T	0.20047	0.0482	L	0.37466	1.105	0.36530	D	0.870669	B;B	0.23249	0.082;0.082	B;B	0.33620	0.167;0.167	T	0.10359	-1.0633	10	0.48119	T	0.1	-6.8957	6.6766	0.23098	0.319:0.1253:0.5557:0.0	.	218;218	B3KSE0;P30519	.;HMOX2_HUMAN	S	218	ENSP00000385100:R218S;ENSP00000394103:R218S;ENSP00000219700:R218S;ENSP00000391637:R218S;ENSP00000381595:R218S	ENSP00000219700:R218S	R	+	3	2	HMOX2	4498164	1.000000	0.71417	0.643000	0.29450	0.975000	0.68041	1.731000	0.38135	0.328000	0.23435	-0.258000	0.10820	AGG		0.522	HMOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251636.2			29	65	0	0	0	0.729181	0	29	65					C	4558163	G	C	4558163	3	2	59	1	0	0	0	0	1	0	0	0	7244	1165	41	4	664	4	HMOX2	16	4558163	Missense_Mutation	SNP	G	TCGA-DE-A3KN-01A-11D-A20C-08		4558163	85796590	18	1397											
PLCD3	113026	broad.mit.edu	37	chr17	43197710	43197710	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttgaagaggaggtaggcGtacatgtcgttcatgtccac	12	9	1	2			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr17:43197710G>A	ENST00000322765.5	-	4	779	c.666C>T	c.(664-666)taC>taT	p.Y222Y	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	222	EF-hand 2.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						GGAGGTAGGCGTACATGTCGT	0.577																																						ENST00000322765.5																			0				breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						c.(664-666)taC>taT		phospholipase C, delta 3	Phosphatidylserine(DB00144)						132	143	139					17																	43197710		2188	4286	6474	SO:0001819	synonymous_variant	113026				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr17:43197710G>A	AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.666C>T	17.37:g.43197710G>A						PLCD3_ENST00000540511.1_5'UTR	p.Y222Y	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN			4	779	-			222			EF-hand 2.		Q8TEC1|Q8TF37|Q96FL6	Silent	SNP	ENST00000322765.5	37	c.666C>T																																																																																					0.577	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_133373		3	30	0	0	0	0.115264	0	3	30					A	43197710	G	A	43197710	2	1	59	1	0	0	0	0	0	0	0	1	12032	1140	40	1		1	PLCD3	17	43197710	Silent	SNP	G	TCGA-DE-A3KN-01A-11D-A20C-08		43197710	37997500	19	1398											
WDR45L	56270	broad.mit.edu	37	chr17	80574465	80574465	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcctgagggaacctgaaacTtggagaaactccacttggaa	11	9	0	3			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr17:80574465T>C	ENST00000392325.4	-	9	1057	c.863A>G	c.(862-864)aAg>aGg	p.K288R	WDR45B_ENST00000571835.1_5'UTR	NM_019613.3	NP_062559.2	Q5MNZ6	WIPI3_HUMAN	WD repeat domain 45B	288																	AACCTGAAACTTGGAGAAACT	0.493																																						ENST00000392325.4																			0											c.(862-864)aAg>aGg		WD repeat domain 45B							116	115	115					17																	80574465		2203	4300	6503	SO:0001583	missense	56270							g.chr17:80574465T>C	AF091083	CCDS11815.2	17q25.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000141580	ENSG00000141580		"WD repeat domain containing"	25072	protein-coding gene	gene with protein product		609226	"WDR45-like"	WDR45L		12477932	Standard	NM_019613		Approved	WIPI3	uc002kfq.3	Q5MNZ6	OTTHUMG00000150146	ENST00000392325.4:c.863A>G	17.37:g.80574465T>C	ENSP00000376139:p.Lys288Arg					WDR45B_ENST00000571835.1_5'UTR	p.K288R	NM_019613.3	NP_062559.2					9	1057	-								O95328|Q2MCP6|Q6IBN2	Missense_Mutation	SNP	ENST00000392325.4	37	c.863A>G	CCDS11815.2	.	.	.	.	.	.	.	.	.	.	T	14.06	2.423489	0.43020	.	.	ENSG00000141580	ENST00000392325;ENST00000539012	T	0.77750	-1.12	5.23	5.23	0.72850	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.045892	0.85682	D	0.000000	T	0.62804	0.2458	N	0.17345	0.48	0.58432	D	0.999998	B	0.06786	0.001	B	0.06405	0.002	T	0.58239	-0.7671	10	0.15066	T	0.55	-10.5632	15.1078	0.72334	0.0:0.0:0.0:1.0	.	288	Q5MNZ6	WIPI3_HUMAN	R	288;260	ENSP00000376139:K288R	ENSP00000376139:K288R	K	-	2	0	WDR45L	78167754	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.724000	0.68500	1.981000	0.57761	0.460000	0.39030	AAG		0.493	WDR45B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316536.1	NM_019613		3	101	0	0	0	0.150653	0	3	101					C	80574465	T	C	80574465	3	2	59	1	0	0	0	0	1	0	0	0	17295	1609	56	3	179	3	WDR45L	17	80574465	Missense_Mutation	SNP	T	TCGA-DE-A3KN-01A-11D-A20C-08	37376755	80574465	620745	20	1399											
CLIC6	54102	broad.mit.edu	37	chr21	36042463	36042492	+	In_Frame_Del	DEL	GCGTAGAAGCGGGGGTCCCGGCGGGGGACA	GCGTAGAAGCGGGGGTCCCGGCGGGGGACA	-													gggggacccggcgggggacgGcgtagaagcgggggtcccgg					rs557556798|rs548102329|rs13049745|rs369616665|rs62213790|rs13048804	byFrequency	TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr21:36042463_36042492delGCGTAGAAGCGGGGGTCCCGGCGGGGGACA	ENST00000360731.3	+	1	776_805	c.776_805delGCGTAGAAGCGGGGGTCCCGGCGGGGGACA	c.(775-807)ggcgtagaagcgggggtcccggcgggggacagc>ggc	p.VEAGVPAGDS260del	CLIC6_ENST00000349499.2_In_Frame_Del_p.VEAGVPAGDS260del			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	260	13 X 10 AA tandem repeat of G-D-[SNG]- [VIM]-[DEQ]-A-[EAG]-[GDVE]-[PRG]-[LAVP].					chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)	p.S269G(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						GCGGGGGACGGCGTAGAAGCGGGGGTCCCGGCGGGGGACAGCGTAGAAGC	0.761														964	0.192492	0.1551	0.1599	5008	,	,		8557	0.1835		0.2127	False		,,,				2504	0.2546					ENST00000360731.3																			1	Substitution - Missense(1)	p.S269G(1)	central_nervous_system(1)	breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(775-807)ggc>g		chloride intracellular channel 6				159,961		56,47,457						2.8	0.0		dbSNP_130	2	659,2423		241,177,1123	no	coding	CLIC6	NM_053277.1		297,224,1580	A1A1,A1R,RR		21.3822,14.1964,19.4669				818,3384				SO:0001651	inframe_deletion	54102					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity	g.chr21:36042463_36042492delGCGTAGAAGCGGGGGTCCCGGCGGGGGACA	AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"Ion channels / Chloride channels : Intracellular"	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.776_805delGCGTAGAAGCGGGGGTCCCGGCGGGGGACA	21.37:g.36042463_36042492delGCGTAGAAGCGGGGGTCCCGGCGGGGGACA	ENSP00000353959:p.Val260_Ser269del					CLIC6_ENST00000349499.2_In_Frame_Del_p.GVEAGVPAGDS259del	p.GVEAGVPAGDS259del			Q96NY7	CLIC6_HUMAN			1	776_805	+			259			13 X 10 AA tandem repeat of G-D-[SNG]- [VIM]-[DEQ]-A-[EAG]-[GDVE]-[PRG]-[LAVP].		A8K0U8|Q8IX31	In_Frame_Del	DEL	ENST00000360731.3	37	c.776_805delGCGTAGAAGCGGGGGTCCCGGCGGGGGACA																																																																																					0.761	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1			2	4						2	4	---	---	---	---	-	36042492	GCGTAGAAGCGGGGGTCCCGGCGGGGGACA	-	36042463	7	5	59	1	0	1	0	1	0	0	0	0	3530	1203	42	0	778	0	CLIC6	21	36042463	In_Frame_Del	DEL	GCGTAGAAGCGGGGGTCCCGGCGGGGGACA	TCGA-DE-A3KN-01A-11D-A20C-08		36042463	12087432	21	1400											
DYSF	8291	broad.mit.edu	37	chr2	71909724	71909724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgaagttcatcctgtggCggcgtttccggtgggccatc	13	12	1	1	rs200990851		TCGA-DE-A4M8-01A-21D-A257-08	TCGA-DE-A4M8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21090199-d43b-4ef6-a376-cb3ca837a2e1	f49ebc02-7d89-4558-809e-5ae294a0559b	g.chr2:71909724C>T	ENST00000258104.3	+	54	6398	c.6121C>T	c.(6121-6123)Cgg>Tgg	p.R2041W	DYSF_ENST00000410020.3_Missense_Mutation_p.R2080W|DYSF_ENST00000413539.2_Missense_Mutation_p.R2072W|DYSF_ENST00000409366.1_Missense_Mutation_p.R2063W|DYSF_ENST00000394120.2_Missense_Mutation_p.R2042W|DYSF_ENST00000410041.1_Missense_Mutation_p.R2059W|DYSF_ENST00000409651.1_Missense_Mutation_p.R2073W|DYSF_ENST00000409762.1_Missense_Mutation_p.R2058W|DYSF_ENST00000429174.2_Missense_Mutation_p.R2062W|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409744.1_Missense_Mutation_p.R2049W|DYSF_ENST00000409582.3_Missense_Mutation_p.R2079W	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	2041					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CATCCTGTGGCGGCGTTTCCG	0.582																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(6121-6123)Cgg>Tgg		dysferlin							173	125	141					2																	71909724		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71909724C>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.6121C>T	2.37:g.71909724C>T	ENSP00000258104:p.Arg2041Trp					DYSF_ENST00000413539.2_Missense_Mutation_p.R2072W|DYSF_ENST00000409651.1_Missense_Mutation_p.R2073W|DYSF_ENST00000409582.3_Missense_Mutation_p.R2079W|DYSF_ENST00000429174.2_Missense_Mutation_p.R2062W|DYSF_ENST00000410041.1_Missense_Mutation_p.R2059W|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Missense_Mutation_p.R2063W|DYSF_ENST00000410020.3_Missense_Mutation_p.R2080W|DYSF_ENST00000394120.2_Missense_Mutation_p.R2042W|DYSF_ENST00000409762.1_Missense_Mutation_p.R2058W|DYSF_ENST00000409744.1_Missense_Mutation_p.R2049W	p.R2041W	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			54	6398	+			2041					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.6121C>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059284	0.76074	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88	5.1	3.13	0.36017	.	0.050411	0.85682	D	0.000000	D	0.91908	0.7438	M	0.84773	2.715	0.53005	D	0.999969	D;D;D;D;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;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.985;1.0;1.0;1.0;1.0;0.999;0.999;0.999;0.995;1.0;0.975;0.982;1.0;1.0;0.999	D	0.92459	0.5976	10	0.87932	D	0	-25.7551	11.4408	0.50096	0.4266:0.5734:0.0:0.0	.	805;2073;2080;2063;2028;2059;2049;2058;2048;2072;2079;2062;2027;2042;2041	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	W	2072;2058;2079;2062;2041;2073;2042;2049;2063;2080;2059	ENSP00000407046:R2072W;ENSP00000387137:R2058W;ENSP00000386547:R2079W;ENSP00000398305:R2062W;ENSP00000258104:R2041W;ENSP00000386683:R2073W;ENSP00000377678:R2042W;ENSP00000386285:R2049W;ENSP00000386512:R2063W;ENSP00000386881:R2080W;ENSP00000386617:R2059W	ENSP00000258104:R2041W	R	+	1	2	DYSF	71763232	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.570000	0.36439	1.220000	0.43490	0.655000	0.94253	CGG		0.582	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		12	68	0	0	0	1	0	12	68					T	71909724	C	T	71909724	3	4	60	1	0	0	0	0	1	0	0	0	4859	759	27	1	6594	1	DYSF	2	71909724	Missense_Mutation	SNP	C	TCGA-DE-A4M8-01A-21D-A257-08		71909724	171289649	1	1401											
SYN2	6854	broad.mit.edu	37	chr3	12183431	12183431	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcagagctcaacctggtGgcccatgcagatggcaccta	10	12	2	2			TCGA-DE-A4M8-01A-21D-A257-08	TCGA-DE-A4M8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21090199-d43b-4ef6-a376-cb3ca837a2e1	f49ebc02-7d89-4558-809e-5ae294a0559b	g.chr3:12183431G>A	ENST00000432424.2	+	0	634							Q92777	SYN2_HUMAN	synapsin II						neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						TCAACCTGGTGGCCCATGCAG	0.478																																						ENST00000432424.2																			0				breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18								synapsin II							144	135	138					3																	12183431		1926	4136	6062			6854				neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity	g.chr3:12183431G>A		CCDS74900.1, CCDS74901.1	3p25.2	2013-09-20			ENSG00000157152	ENSG00000157152			11495	protein-coding gene	gene with protein product		600755				8530057	Standard	XM_006713311		Approved	SYNII, SYNIIa, SYNIIb	uc003bwm.3	Q92777	OTTHUMG00000155335		3.37:g.12183431G>A										Q86VA8	Q86VA8_HUMAN			0	634	+								A8MY98	RNA	SNP	ENST00000432424.2	37																																																																																						0.478	SYN2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000339528.3	NM_133625		7	38	0	0	0	1	0	7	38					A	12183431	G	A	12183431	1	1	60	0	1	0	0	0	0	0	0	0	15438	1335	47	2		2	SYN2	3	12183431	RNA	SNP	G	TCGA-DE-A4M8-01A-21D-A257-08		12183431	185838999	2	1402											
KDR	3791	broad.mit.edu	37	chr4	55946325	55946325	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcttttgctgggcaccAttccactgcagaagaaatgg	10	12	0	2			TCGA-DE-A4M8-01A-21D-A257-08	TCGA-DE-A4M8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21090199-d43b-4ef6-a376-cb3ca837a2e1	f49ebc02-7d89-4558-809e-5ae294a0559b	g.chr4:55946325A>G	ENST00000263923.4	-	30	4149	c.3854T>C	c.(3853-3855)aTg>aCg	p.M1285T	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1285					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCTGGGCACCATTCCACTGCA	0.507			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"NSCLC, angiosarcoma"		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(3853-3855)aTg>aCg		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						89	87	88					4																	55946325		2203	4300	6503	SO:0001583	missense	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55946325A>G	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3854T>C	4.37:g.55946325A>G	ENSP00000263923:p.Met1285Thr	TSP Lung(20;0.16)				RP11-530I17.1_ENST00000511222.1_RNA	p.M1285T	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		30	4149	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		1285					A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.3854T>C	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	A	8.744	0.919759	0.17982	.	.	ENSG00000128052	ENST00000263923	T	0.74947	-0.89	5.63	5.63	0.86233	.	0.130613	0.53938	D	0.000058	T	0.58032	0.2094	N	0.08118	0	0.41401	D	0.987674	B	0.18741	0.03	B	0.19148	0.024	T	0.56323	-0.7998	10	0.45353	T	0.12	.	15.8397	0.78835	1.0:0.0:0.0:0.0	.	1285	P35968	VGFR2_HUMAN	T	1285	ENSP00000263923:M1285T	ENSP00000263923:M1285T	M	-	2	0	KDR	55641082	1.000000	0.71417	0.990000	0.47175	0.057000	0.15508	8.730000	0.91510	2.153000	0.67306	0.533000	0.62120	ATG		0.507	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			8	37	0	0	0	1	0	8	37					G	55946325	A	G	55946325	3	3	60	1	0	0	0	0	1	0	0	0	8139	217	8	3	220	3	KDR	4	55946325	Missense_Mutation	SNP	A	TCGA-DE-A4M8-01A-21D-A257-08		55946325	135207951	3	1403											
TERT	7015	broad.mit.edu	37	chr5	1280291	1280291	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctcttttctctgcggaaCgttctggctcccacgacgta	8	15	3	0	rs148582238	byFrequency	TCGA-DE-A4M8-01A-21D-A257-08	TCGA-DE-A4M8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21090199-d43b-4ef6-a376-cb3ca837a2e1	f49ebc02-7d89-4558-809e-5ae294a0559b	g.chr5:1280291C>T	ENST00000310581.5	-	4	1989	c.1932G>A	c.(1930-1932)acG>acA	p.T644T	TERT_ENST00000334602.6_Silent_p.T644T|TERT_ENST00000508104.2_Silent_p.T644T|TERT_ENST00000296820.5_Silent_p.T644T	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	644	Reverse transcriptase. {ECO:0000255|PROSITE-ProRule:PRU00405}.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	CTCTGCGGAACGTTCTGGCTC	0.552									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				C|||	3	0.000599042	0.0023	0	5008	,	,		18097	0		0	False		,,,				2504	0					ENST00000310581.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41						c.(1930-1932)acG>acA		telomerase reverse transcriptase		C	,	1,4405	2.1+/-5.4	0,1,2202	121	117	119		1932,1932	-9.0	0.0	5	dbSNP_134	119	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TERT	NM_001193376.1,NM_198253.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	644/1070,644/1133	1280291	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0	TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1280291C>T	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.1932G>A	5.37:g.1280291C>T						TERT_ENST00000296820.5_Silent_p.T644T|TERT_ENST00000508104.2_Silent_p.T644T|TERT_ENST00000334602.6_Silent_p.T644T	p.T644T	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		4	1989	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		644			Reverse transcriptase.		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Silent	SNP	ENST00000310581.5	37	c.1932G>A	CCDS3861.2																																																																																				0.552	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			6	99	0	0	0	1	0	6	99					T	1280291	C	T	1280291	2	4	60	1	0	0	0	0	0	0	0	1	15761	523	19	1		1	TERT	5	1280291	Silent	SNP	C	TCGA-DE-A4M8-01A-21D-A257-08		1280291	179634969	4	1404											
PCDH12	51294	broad.mit.edu	37	chr5	141329142	141329142	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggccatctgtgtctgggatTgcactcctgcaaaagaaacc	11	11	2	1			TCGA-DE-A4M8-01A-21D-A257-08	TCGA-DE-A4M8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21090199-d43b-4ef6-a376-cb3ca837a2e1	f49ebc02-7d89-4558-809e-5ae294a0559b	g.chr5:141329142T>C	ENST00000231484.3	-	3	4195	c.2985A>G	c.(2983-2985)gcA>gcG	p.A995A	AC005740.6_ENST00000607378.1_RNA	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	995					calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCTGGGATTGCACTCCTGC	0.493																																						ENST00000231484.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38						c.(2983-2985)gcA>gcG		protocadherin 12							119	113	115					5																	141329142		2203	4300	6503	SO:0001819	synonymous_variant	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141329142T>C	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"Cadherins / Protocadherins : Non-clustered"	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.2985A>G	5.37:g.141329142T>C							p.A995A	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	4195	-		all_hematologic(541;0.0999)	995					Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Silent	SNP	ENST00000231484.3	37	c.2985A>G	CCDS4269.1																																																																																				0.493	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		16	77	0	0	0	1	0	16	77					C	141329142	T	C	141329142	2	2	60	1	0	0	0	0	0	0	0	1	11510	1799	63	3		3	PCDH12	5	141329142	Silent	SNP	T	TCGA-DE-A4M8-01A-21D-A257-08	140048851	141329142	39586118	5	1405											
TIAM2	26230	broad.mit.edu	37	chr6	155504495	155504495	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	actctgattgcccggcctccGgacacaaaagcaaccctgtg	9	15	1	1	rs145603552	byFrequency	TCGA-DE-A4M8-01A-21D-A257-08	TCGA-DE-A4M8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21090199-d43b-4ef6-a376-cb3ca837a2e1	f49ebc02-7d89-4558-809e-5ae294a0559b	g.chr6:155504495G>C	ENST00000461783.3	+	16	4198	c.2925G>C	c.(2923-2925)ccG>ccC	p.P975P	TIAM2_ENST00000367174.2_Silent_p.P351P|TIAM2_ENST00000318981.5_Silent_p.P975P|TIAM2_ENST00000456877.2_Silent_p.P287P|TIAM2_ENST00000529824.2_Silent_p.P975P|TIAM2_ENST00000456144.1_Silent_p.P975P|TIAM2_ENST00000528391.2_Silent_p.P311P|TIAM2_ENST00000360366.4_Silent_p.P999P			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	975	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CCCGGCCTCCGGACACAAAAG	0.547													G|||	11	0.00219649	8e-04	0	5008	,	,		17045	0		0.007	False		,,,				2504	0.0031					ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(2923-2925)ccG>ccC		T-cell lymphoma invasion and metastasis 2		G		6,4400	11.4+/-27.6	0,6,2197	81	80	80		2925	-3.6	0.0	6	dbSNP_134	80	40,8560	26.8+/-75.7	0,40,4260	no	coding-synonymous	TIAM2	NM_012454.3		0,46,6457	CC,CG,GG		0.4651,0.1362,0.3537		975/1702	155504495	46,12960	2203	4300	6503	SO:0001819	synonymous_variant	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155504495G>C		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.2925G>C	6.37:g.155504495G>C						TIAM2_ENST00000456877.2_Silent_p.P287P|TIAM2_ENST00000318981.5_Silent_p.P975P|TIAM2_ENST00000456144.1_Silent_p.P975P|TIAM2_ENST00000529824.2_Silent_p.P975P|TIAM2_ENST00000528391.2_Silent_p.P311P|TIAM2_ENST00000367174.2_Silent_p.P351P|TIAM2_ENST00000360366.4_Silent_p.P999P	p.P975P			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	16	4198	+		Ovarian(120;0.196)	975			PDZ.		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Silent	SNP	ENST00000461783.3	37	c.2925G>C	CCDS34558.1																																																																																				0.547	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		4	53	0	0	0	1	0	4	53					C	155504495	G	C	155504495	2	2	60	1	0	0	0	0	0	0	0	1	15888	1103	39	4		4	TIAM2	6	155504495	Silent	SNP	G	TCGA-DE-A4M8-01A-21D-A257-08		155504495	15610572	6	1406											
VWA2	340706	broad.mit.edu	37	chr10	116045953	116045953	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggcattcccttccgtggtgGccccaccctgacgggcagtg	13	15	0	1	rs147199528		TCGA-DE-A4M8-01A-21D-A257-08	TCGA-DE-A4M8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21090199-d43b-4ef6-a376-cb3ca837a2e1	f49ebc02-7d89-4558-809e-5ae294a0559b	g.chr10:116045953G>C	ENST00000392982.3	+	11	1503	c.1253G>C	c.(1252-1254)gGc>gCc	p.G418A	VWA2_ENST00000603594.1_Missense_Mutation_p.G418A			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	418	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		TTCCGTGGTGGCCCCACCCTG	0.672																																						ENST00000603594.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26						c.(1252-1254)gGc>gCc		von Willebrand factor A domain containing 2							68	62	64					10																	116045953		2203	4300	6503	SO:0001583	missense	340706					extracellular region		g.chr10:116045953G>C	AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.1253G>C	10.37:g.116045953G>C	ENSP00000376708:p.Gly418Ala					VWA2_ENST00000392982.3_Missense_Mutation_p.G418A	p.G418A	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN		Epithelial(162;0.036)|all cancers(201;0.0793)	11	1574	+			418			VWFA 2.		A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	ENST00000392982.3	37	c.1253G>C		.	.	.	.	.	.	.	.	.	.	G	26.5	4.744265	0.89663	.	.	ENSG00000165816	ENST00000392982;ENST00000298715	D	0.84660	-1.88	5.6	5.6	0.85130	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.94696	0.8289	M	0.93720	3.45	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.995;1.0;1.0	D	0.95515	0.8589	10	0.72032	D	0.01	.	19.2056	0.93729	0.0:0.0:1.0:0.0	.	114;418;418	Q5GFL6-3;Q5GFL6;Q5GFL6-2	.;VWA2_HUMAN;.	A	418	ENSP00000376708:G418A	ENSP00000298715:G418A	G	+	2	0	VWA2	116035943	1.000000	0.71417	0.991000	0.47740	0.926000	0.56050	9.275000	0.95738	2.625000	0.88918	0.563000	0.77884	GGC		0.672	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3	NM_198496		14	49	0	0	0	1	0	14	49					C	116045953	G	C	116045953	3	2	60	1	0	0	0	0	1	0	0	0	17236	1203	42	4	1291	4	VWA2	10	116045953	Missense_Mutation	SNP	G	TCGA-DE-A4M8-01A-21D-A257-08		116045953	19488794	7	1407											
FBXO3	26273	broad.mit.edu	37	chr11	33777500	33777500	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagaacgatagtgattagaCagtgccatgcttcccaataa	8	9	1	3			TCGA-DE-A4M8-01A-21D-A257-08	TCGA-DE-A4M8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21090199-d43b-4ef6-a376-cb3ca837a2e1	f49ebc02-7d89-4558-809e-5ae294a0559b	g.chr11:33777500C>T	ENST00000265651.3	-	5	513	c.495G>A	c.(493-495)ctG>ctA	p.L165L	FBXO3_ENST00000531080.1_5'Flank|FBXO3_ENST00000533103.1_5'Flank|FBXO3_ENST00000534136.1_Silent_p.L165L|FBXO3_ENST00000532057.1_5'Flank|FBXO3_ENST00000530401.1_Silent_p.L160L|FBXO3_ENST00000448981.2_Silent_p.L165L|FBXO3_ENST00000526785.1_Silent_p.L52L	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	165					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		AGTGATTAGACAGTGCCATGC	0.428																																						ENST00000530401.1																			0				NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13						c.(478-480)ctG>ctA		F-box protein 3							71	64	66					11																	33777500		2202	4298	6500	SO:0001819	synonymous_variant	26273				proteolysis	nucleus	ubiquitin-protein ligase activity	g.chr11:33777500C>T	AK001943	CCDS7887.1, CCDS44566.1	11p13	2006-07-07	2004-06-15		ENSG00000110429	ENSG00000110429		"F-boxes /  "other""	13582	protein-coding gene	gene with protein product		609089	"F-box only protein 3"			10531037	Standard	NM_033406		Approved	FBX3, FBA	uc001muz.3	Q9UK99	OTTHUMG00000166244	ENST00000265651.3:c.495G>A	11.37:g.33777500C>T						FBXO3_ENST00000534136.1_Silent_p.L165L|FBXO3_ENST00000526785.1_Silent_p.L52L|FBXO3_ENST00000448981.2_Silent_p.L165L|FBXO3_ENST00000265651.3_Silent_p.L165L	p.L160L			Q9UK99	FBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)	5	500	-		Lung NSC(402;0.0804)	165					B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Silent	SNP	ENST00000265651.3	37	c.480G>A	CCDS7887.1	.	.	.	.	.	.	.	.	.	.	C	9.808	1.182491	0.21870	.	.	ENSG00000110429	ENST00000321458	.	.	.	5.63	1.33	0.21861	.	.	.	.	.	T	0.54532	0.1864	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54886	-0.8226	5	0.59425	D	0.04	-9.4257	2.7057	0.05161	0.1142:0.4322:0.2465:0.2072	.	.	.	.	Y	163	.	ENSP00000315066:C163Y	C	-	2	0	FBXO3	33734076	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	0.815000	0.27253	0.709000	0.31976	-0.300000	0.09419	TGT		0.428	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388665.1	NM_012175		3	24	0	0	0	1	0	3	24					T	33777500	C	T	33777500	2	4	60	1	0	0	0	0	0	0	0	1	5739	465	17	2		2	FBXO3	11	33777500	Silent	SNP	C	TCGA-DE-A4M8-01A-21D-A257-08		33777500	101229016	8	1408											
OR8K5	219453	broad.mit.edu	37	chr11	55927697	55927697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgtgattaggtagatgaCgaggaagactccaaaaaggg	13	6	0	4	rs200015077		TCGA-DE-A4M8-01A-21D-A257-08	TCGA-DE-A4M8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21090199-d43b-4ef6-a376-cb3ca837a2e1	f49ebc02-7d89-4558-809e-5ae294a0559b	g.chr11:55927697C>T	ENST00000313447.1	-	1	96	c.97G>A	c.(97-99)Gtc>Atc	p.V33I		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				AGGTAGATGACGAGGAAGACT	0.433																																						ENST00000313447.1																			0				large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(97-99)Gtc>Atc		olfactory receptor, family 8, subfamily K, member 5		C	ILE/VAL	0,4402		0,0,2201	135	132	133		97	-7.1	0.5	11		133	2,8590	2.2+/-6.3	0,2,4294	yes	missense	OR8K5	NM_001004058.2	29	0,2,6495	TT,TC,CC		0.0233,0.0,0.0154	benign	33/308	55927697	2,12992	2201	4296	6497	SO:0001583	missense	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55927697C>T	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"GPCR / Class A : Olfactory receptors"	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.97G>A	11.37:g.55927697C>T	ENSP00000323853:p.Val33Ile						p.V33I	NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN			1	96	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	33					Q6IFB5	Missense_Mutation	SNP	ENST00000313447.1	37	c.97G>A	CCDS31521.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.636717	0.00806	0.0	2.33E-4	ENSG00000181752	ENST00000313447	T	0.00438	7.42	3.74	-7.1	0.01547	.	.	.	.	.	T	0.00109	0.0003	N	0.02865	-0.47	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31251	-0.9950	9	0.12766	T	0.61	.	0.5541	0.00668	0.2806:0.167:0.3185:0.234	.	33	Q8NH50	OR8K5_HUMAN	I	33	ENSP00000323853:V33I	ENSP00000323853:V33I	V	-	1	0	OR8K5	55684273	0.000000	0.05858	0.482000	0.27366	0.497000	0.33675	-4.408000	0.00238	-1.009000	0.03400	-0.673000	0.03796	GTC		0.433	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		19	72	0	0	0	1	0	19	72					T	55927697	C	T	55927697	3	4	60	1	0	0	0	0	1	0	0	0	11245	536	19	1	829	1	OR8K5	11	55927697	Missense_Mutation	SNP	C	TCGA-DE-A4M8-01A-21D-A257-08	22150197	55927697	79078819	9	1409											
CDH8	1006	broad.mit.edu	37	chr16	61761114	61761114	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tactcgtgatatctgactgtGgttccctatgggaaggaaaa	11	7	1	2			TCGA-DE-A4M8-01A-21D-A257-08	TCGA-DE-A4M8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21090199-d43b-4ef6-a376-cb3ca837a2e1	f49ebc02-7d89-4558-809e-5ae294a0559b	g.chr16:61761114G>T	ENST00000577390.1	-	9	2374	c.1420C>A	c.(1420-1422)Cac>Aac	p.H474N	CDH8_ENST00000577730.1_Missense_Mutation_p.H474N|CDH8_ENST00000584337.1_Missense_Mutation_p.H474N|CDH8_ENST00000299345.6_Missense_Mutation_p.H474N	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	474	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ATCTGACTGTGGTTCCCTATG	0.398																																						ENST00000577390.1																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(1420-1422)Cac>Aac		cadherin 8, type 2							172	155	161					16																	61761114		2203	4299	6502	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61761114G>T	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1420C>A	16.37:g.61761114G>T	ENSP00000462701:p.His474Asn					CDH8_ENST00000299345.6_Missense_Mutation_p.H474N|CDH8_ENST00000584337.1_Missense_Mutation_p.H474N|CDH8_ENST00000577730.1_Missense_Mutation_p.H474N	p.H474N	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	9	2374	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	474			Cadherin 4.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.1420C>A	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813638	0.70912	.	.	ENSG00000150394	ENST00000299345	T	0.01705	4.68	5.75	5.75	0.90469	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.03827	0.0108	L	0.31157	0.91	0.80722	D	1	P;P	0.37688	0.605;0.486	B;P	0.45538	0.369;0.484	T	0.57877	-0.7735	10	0.54805	T	0.06	.	19.9498	0.97195	0.0:0.0:1.0:0.0	.	290;474	Q3LID3;P55286	.;CADH8_HUMAN	N	474	ENSP00000299345:H474N	ENSP00000299345:H474N	H	-	1	0	CDH8	60318615	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.130000	0.77235	2.715000	0.92844	0.650000	0.86243	CAC		0.398	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		14	117	1	0	6.31663e-08	1	6.52718e-08	14	117					T	61761114	G	T	61761114	3	4	60	1	0	0	0	0	1	0	0	0	3116	1348	47	4	995	4	CDH8	16	61761114	Missense_Mutation	SNP	G	TCGA-DE-A4M8-01A-21D-A257-08		61761114	28593639	10	1410											
POFUT2	23275	broad.mit.edu	37	chr21	46689817	46689817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggtcttcatgaggctgcGgatcttcctcacggcccctt	12	13	4	1			TCGA-DE-A4M8-01A-21D-A257-08	TCGA-DE-A4M8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21090199-d43b-4ef6-a376-cb3ca837a2e1	f49ebc02-7d89-4558-809e-5ae294a0559b	g.chr21:46689817G>A	ENST00000349485.5	-	7	975	c.949C>T	c.(949-951)Cgc>Tgc	p.R317C	POFUT2_ENST00000471540.1_5'UTR|POFUT2_ENST00000331343.7_Missense_Mutation_p.R317C	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	317					fucose metabolic process (GO:0006004)|mesoderm formation (GO:0001707)|protein O-linked fucosylation (GO:0036066)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of gene expression (GO:0010468)|regulation of secretion (GO:0051046)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		ATGAGGCTGCGGATCTTCCTC	0.542																																						ENST00000331343.7																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20						c.(949-951)Cgc>Tgc		protein O-fucosyltransferase 2							92	86	88					21																	46689817		2203	4300	6503	SO:0001583	missense	23275				fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity	g.chr21:46689817G>A	AJ203079	CCDS13719.1, CCDS13721.1	21q22.3	2013-03-06	2004-06-07	2004-06-09	ENSG00000186866	ENSG00000186866	2.4.1.221	"Fucosyltransferases"	14683	protein-coding gene	gene with protein product	"peptide-O-fucosyltransferase", "GDP-fucose protein O-fucosyltransferase 2"	610249	"chromosome 21 open reading frame 80"	C21orf80			Standard	NM_133635		Approved	KIAA0958, FUT13	uc002zhc.3	Q9Y2G5	OTTHUMG00000084874	ENST00000349485.5:c.949C>T	21.37:g.46689817G>A	ENSP00000339613:p.Arg317Cys					POFUT2_ENST00000471540.1_5'UTR|POFUT2_ENST00000349485.5_Missense_Mutation_p.R317C	p.R317C	NM_015227.4	NP_056042.1	Q9Y2G5	OFUT2_HUMAN		Colorectal(79;0.243)	7	975	-			317					Q6PJV1|Q7Z4N0|Q8WWU6|Q9BQS4|Q9BQS5|Q9UFY3	Missense_Mutation	SNP	ENST00000349485.5	37	c.949C>T	CCDS13719.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.45|18.45	3.627516|3.627516	0.66901|0.66901	.|.	.|.	ENSG00000186866|ENSG00000186866	ENST00000451615|ENST00000331343;ENST00000349485	.|T;T	.|0.31510	.|1.49;1.49	4.35|4.35	4.35|4.35	0.52113|0.52113	.|.	.|0.160446	.|0.53938	.|D	.|0.000042	T|T	0.50394|0.50394	0.1613|0.1613	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.999	.|P;P	.|0.60682	.|0.854;0.878	T|T	0.54583|0.54583	-0.8272|-0.8272	5|10	.|0.54805	.|T	.|0.06	-16.253|-16.253	14.743|14.743	0.69469|0.69469	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|317;317	.|Q9Y2G5-1;Q9Y2G5	.|.;OFUT2_HUMAN	L|C	239|317	.|ENSP00000329682:R317C;ENSP00000339613:R317C	.|ENSP00000329682:R317C	P|R	-|-	2|1	0|0	POFUT2|POFUT2	45514245|45514245	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.516000|0.516000	0.34256|0.34256	4.108000|4.108000	0.57817|0.57817	2.144000|2.144000	0.66660|0.66660	0.655000|0.655000	0.94253|0.94253	CCG|CGC		0.542	POFUT2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192573.2	NM_015227		9	55	0	0	0	1	0	9	55					A	46689817	G	A	46689817	3	1	60	1	0	0	0	0	1	0	0	0	12184	1116	39	1	491	1	POFUT2	21	46689817	Missense_Mutation	SNP	G	TCGA-DE-A4M8-01A-21D-A257-08		46689817	1440078	11	1411											
TMSB15A	11013	broad.mit.edu	37	chrX	101770045	101770045	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tattagttttcttcagttttGacctgtcaaacttctccact	4	10	4	1			TCGA-DE-A4M8-01A-21D-A257-08	TCGA-DE-A4M8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21090199-d43b-4ef6-a376-cb3ca837a2e1	f49ebc02-7d89-4558-809e-5ae294a0559b	g.chrX:101770045G>A	ENST00000289373.4	-	2	182	c.47C>T	c.(46-48)tCa>tTa	p.S16L		NM_021992.2	NP_068832.1	P0CG34	TB15A_HUMAN	thymosin beta 15a	16					actin cytoskeleton organization (GO:0030036)|sequestering of actin monomers (GO:0042989)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				large_intestine(1)|lung(1)	2						CTTCAGTTTTGACCTGTCAAA	0.368																																						ENST00000289373.4																			0				large_intestine(1)|lung(1)	2						c.(46-48)tCa>tTa		thymosin beta 15a							124	117	120					X																	101770045		2203	4300	6503	SO:0001583	missense	11013				actin cytoskeleton organization|sequestering of actin monomers	cytoplasm|cytoskeleton	actin binding	g.chrX:101770045G>A	D82345	CCDS14498.1	Xq21.33-q22.3	2009-01-12	2009-01-12	2009-01-12	ENSG00000158164	ENSG00000158164			30744	protein-coding gene	gene with protein product		601587	"thymosin-like 8"	TMSL8		9039501, 17567946	Standard	NM_021992		Approved	TMSNB	uc004eje.3	P0CG34	OTTHUMG00000022054	ENST00000289373.4:c.47C>T	X.37:g.101770045G>A	ENSP00000289373:p.Ser16Leu						p.S16L	NM_021992.2	NP_068832.1	P0CG34	TB15A_HUMAN			2	182	-			16					A8K614|Q99406	Missense_Mutation	SNP	ENST00000289373.4	37	c.47C>T	CCDS14498.1	.	.	.	.	.	.	.	.	.	.	G	9.202	1.028615	0.19512	.	.	ENSG00000158164	ENST00000289373	T	0.47869	0.83	3.65	1.55	0.23275	.	0.502464	0.13113	N	0.412858	T	0.35335	0.0928	.	.	.	0.22796	N	0.998725	B	0.31949	0.348	B	0.34652	0.187	T	0.30179	-0.9987	9	0.59425	D	0.04	-18.8619	5.0532	0.14520	0.0:0.1854:0.3758:0.4388	.	16	P0CG34	TB15A_HUMAN	L	16	ENSP00000289373:S16L	ENSP00000289373:S16L	S	-	2	0	TMSB15A	101656701	0.993000	0.37304	0.993000	0.49108	0.968000	0.65278	0.398000	0.20899	0.567000	0.29293	0.529000	0.55759	TCA		0.368	TMSB15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057621.1	NM_021992		9	79	0	0	0	1	0	9	79					A	101770045	G	A	101770045	3	1	60	1	0	0	0	0	1	0	0	0	16252	1294	45	2	98	2	TMSB15A	23	101770045	Missense_Mutation	SNP	G	TCGA-DE-A4M8-01A-21D-A257-08		101770045	53500515	12	1412											
OSCP1	127700	broad.mit.edu	37	chr1	36898067	36898067	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccacttgctgcaggatggTtggggagtctcggatgaatc	15	8	1	1	rs34409118	byFrequency	TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr1:36898067T>C	ENST00000356637.5	-	4	484	c.421A>G	c.(421-423)Acc>Gcc	p.T141A	OSCP1_ENST00000354267.3_Missense_Mutation_p.T131A|OSCP1_ENST00000235532.5_Missense_Mutation_p.T131A|OSCP1_ENST00000433045.2_Missense_Mutation_p.T86A|OSCP1_ENST00000315643.9_Missense_Mutation_p.T141A			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	141			T -> A (in dbSNP:rs34409118). {ECO:0000269|PubMed:16006562}.		transport (GO:0006810)	plasma membrane (GO:0005886)		p.T141A(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						TGCAGGATGGTTGGGGAGTCT	0.502													T|||	1042	0.208067	0.1604	0.1369	5008	,	,		21091	0.2599		0.2048	False		,,,				2504	0.273					ENST00000356637.5																			2	Substitution - Missense(2)	p.T141A(2)	stomach(1)|pancreas(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						c.(421-423)Acc>Gcc		organic solute carrier partner 1		T	ALA/THR,ALA/THR	794,3612	317.4+/-295.1	67,660,1476	128	113	118		391,391	-1.4	1.0	1	dbSNP_126	118	1836,6764	329.8+/-318.9	202,1432,2666	yes	missense,missense	OSCP1	NM_145047.4,NM_206837.2	58,58	269,2092,4142	CC,CT,TT		21.3488,18.0209,20.2214	benign,benign	131/380,131/224	36898067	2630,10376	2203	4300	6503	SO:0001583	missense	127700				transport	basal plasma membrane		g.chr1:36898067T>C		CCDS409.1, CCDS410.1, CCDS409.2	1p34.3	2009-07-06	2009-07-06	2009-07-06	ENSG00000116885	ENSG00000116885			29971	protein-coding gene	gene with protein product	"oxidored nitro domain containing protein"	608854	"chromosome 1 open reading frame 102"	C1orf102		12477932	Standard	NM_145047		Approved	NOR1	uc001caq.3	Q8WVF1	OTTHUMG00000008139	ENST00000356637.5:c.421A>G	1.37:g.36898067T>C	ENSP00000349052:p.Thr141Ala					OSCP1_ENST00000354267.3_Missense_Mutation_p.T131A|OSCP1_ENST00000433045.2_Missense_Mutation_p.T86A|OSCP1_ENST00000315643.9_Missense_Mutation_p.T141A|OSCP1_ENST00000235532.5_Missense_Mutation_p.T131A	p.T141A			Q8WVF1	OSCP1_HUMAN			4	484	-			141		T -> A (in dbSNP:rs34409118).			A6NHM5|A6NHS9|A6NIN9|Q4AEJ0|Q8N7G2|Q8TDF1	Missense_Mutation	SNP	ENST00000356637.5	37	c.421A>G		420	0.19230769230769232	65	0.13211382113821138	58	0.16022099447513813	144	0.2517482517482518	153	0.20184696569920843	T	1.622	-0.521352	0.04171	0.180209	0.213488	ENSG00000116885	ENST00000235532;ENST00000356637;ENST00000433045;ENST00000445843;ENST00000315643;ENST00000354267	T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64	5.6	-1.39	0.08997	.	0.615809	0.16766	N	0.200427	T	0.00012	0.0000	N	0.01228	-0.945	0.45914	P	0.0012499999999999734	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.37619	-0.9698	9	0.05620	T	0.96	.	7.0272	0.24946	0.0:0.3174:0.1172:0.5655	rs34409118	131;131;141	Q8WVF1-4;Q8WVF1-3;Q8WVF1	.;.;OSCP1_HUMAN	A	131;141;86;101;141;131	ENSP00000235532:T131A;ENSP00000349052:T141A;ENSP00000390820:T86A;ENSP00000396417:T101A;ENSP00000314541:T141A;ENSP00000346216:T131A	ENSP00000235532:T131A	T	-	1	0	OSCP1	36670654	0.980000	0.34600	0.993000	0.49108	0.462000	0.32619	0.340000	0.19892	-0.153000	0.11137	0.533000	0.62120	ACC		0.502	OSCP1-010	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000389759.1	NM_145047		6	97	0	0	0	1	0	6	97					C	36898067	T	C	36898067	3	2	61	1	0	0	0	0	1	0	0	0	11286	1725	60	3	940	3	OSCP1	1	36898067	Missense_Mutation	SNP	T	TCGA-DE-A4M9-01A-11D-A257-08		36898067	212352554	1	1413											
GPR75	10936	broad.mit.edu	37	chr2	54081132	54081132	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacctccctgcacagggacCcccatgaaaggctgtggtct	10	16	1	1			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr2:54081132C>T	ENST00000394705.2	-	2	1032	c.762G>A	c.(760-762)ggG>ggA	p.G254G	ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000406625.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	254					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of neuron death (GO:1901214)	integral component of plasma membrane (GO:0005887)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCACAGGGACCCCCATGAAAG	0.537																																						ENST00000394705.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(760-762)ggG>ggA		G protein-coupled receptor 75							88	89	88					2																	54081132		2203	4300	6503	SO:0001819	synonymous_variant	10936					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:54081132C>T	AF101472	CCDS1849.1	2p16	2012-08-21			ENSG00000119737	ENSG00000119737		"GPCR / Class A : Orphans"	4526	protein-coding gene	gene with protein product		606704				10381362	Standard	NM_006794		Approved	WI-31133	uc002rxo.3	O95800	OTTHUMG00000129280	ENST00000394705.2:c.762G>A	2.37:g.54081132C>T						ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	p.G254G	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		2	1032	-			254					B2RC02|Q6NWR2	Silent	SNP	ENST00000394705.2	37	c.762G>A	CCDS1849.1																																																																																				0.537	GPR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251403.2			18	38	0	0	0	1	0	18	38					T	54081132	C	T	54081132	2	4	61	1	0	0	0	0	0	0	0	1	6708	610	22	2		2	GPR75	2	54081132	Silent	SNP	C	TCGA-DE-A4M9-01A-11D-A257-08		54081132	189118241	2	1414											
SAMD7	344658	broad.mit.edu	37	chr3	169644878	169644878	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaagcaaaggcctgggaCgatgggaaagaggaggcttc	16	7	0	2			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr3:169644878C>T	ENST00000428432.2	+	6	1217	c.828C>T	c.(826-828)gaC>gaT	p.D276D	SAMD7_ENST00000335556.3_Silent_p.D276D	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	276										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AGGCCTGGGACGATGGGAAAG	0.562																																						ENST00000428432.2																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(826-828)gaC>gaT		sterile alpha motif domain containing 7							61	60	61					3																	169644878		2203	4300	6503	SO:0001819	synonymous_variant	344658							g.chr3:169644878C>T	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"Sterile alpha motif (SAM) domain containing"	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.828C>T	3.37:g.169644878C>T						SAMD7_ENST00000335556.3_Silent_p.D276D	p.D276D	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		6	1217	+	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		276						Silent	SNP	ENST00000428432.2	37	c.828C>T	CCDS3209.1																																																																																				0.562	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610		33	42	0	0	0	1	0	33	42					T	169644878	C	T	169644878	2	4	61	1	0	0	0	0	0	0	0	1	13824	535	19	1		1	SAMD7	3	169644878	Silent	SNP	C	TCGA-DE-A4M9-01A-11D-A257-08		169644878	28377552	3	1415											
FSTL4	23105	broad.mit.edu	37	chr5	132535059	132535059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctccgtgtgcagagccgCgtagatgttgtattgattgc	14	9	0	3			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr5:132535059C>T	ENST00000265342.7	-	16	2506	c.2257G>A	c.(2257-2259)Gcg>Acg	p.A753T	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	753						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.A753T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCAGAGCCGCGTAGATGTTG	0.572																																						ENST00000265342.7																			1	Substitution - Missense(1)	p.A753T(1)	autonomic_ganglia(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23						c.(2257-2259)Gcg>Acg		follistatin-like 4							70	69	69					5																	132535059		2203	4300	6503	SO:0001583	missense	23105					extracellular region	calcium ion binding	g.chr5:132535059C>T	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.2257G>A	5.37:g.132535059C>T	ENSP00000265342:p.Ala753Thr					CTB-49A3.2_ENST00000509051.1_RNA	p.A753T	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		16	2506	-		all_cancers(142;0.244)	753					Q8TBU0|Q9UPU1	Missense_Mutation	SNP	ENST00000265342.7	37	c.2257G>A	CCDS34238.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277045	0.59758	.	.	ENSG00000053108	ENST00000265342;ENST00000360575	T	0.28069	1.63	4.76	4.76	0.60689	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.58949	0.2158	M	0.79926	2.475	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.95;0.999	T	0.65780	-0.6085	10	0.72032	D	0.01	-23.8056	16.769	0.85532	0.0:1.0:0.0:0.0	.	753;402	Q6MZW2;B3KPF3	FSTL4_HUMAN;.	T	753;584	ENSP00000265342:A753T	ENSP00000265342:A753T	A	-	1	0	FSTL4	132562958	1.000000	0.71417	0.126000	0.21872	0.002000	0.02628	4.540000	0.60664	2.200000	0.70718	0.585000	0.79938	GCG		0.572	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		29	37	0	0	0	1	0	29	37					T	132535059	C	T	132535059	3	4	61	1	0	0	0	0	1	0	0	0	6079	768	27	1	275	1	FSTL4	5	132535059	Missense_Mutation	SNP	C	TCGA-DE-A4M9-01A-11D-A257-08		132535059	48380201	4	1416											
KCNIP1	30820	broad.mit.edu	37	chr5	170148874	170148874	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cattacctcttcaatgccttCgacaccactcagacaggctc	5	16	3	1			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr5:170148874C>A	ENST00000411494.1	+	5	327	c.327C>A	c.(325-327)ttC>ttA	p.F109L	KCNIP1_ENST00000328939.4_Missense_Mutation_p.F98L|KCNIP1_ENST00000390656.4_Missense_Mutation_p.F98L|KCNIP1_ENST00000434108.1_Missense_Mutation_p.F123L|KCNIP1_ENST00000520740.1_Missense_Mutation_p.F70L|KCNIP1_ENST00000377360.4_Missense_Mutation_p.F107L			Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	109	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				detection of calcium ion (GO:0005513)|positive regulation of action potential (GO:0045760)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|potassium channel complex (GO:0034705)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|voltage-gated ion channel activity (GO:0005244)	p.F109F(1)		autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCAATGCCTTCGACACCACTC	0.547																																						ENST00000328939.4																			1	Substitution - coding silent(1)	p.F109F(1)	large_intestine(1)	autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18						c.(292-294)ttC>ttA		Kv channel interacting protein 1							243	214	224					5																	170148874		2203	4300	6503	SO:0001583	missense	0				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr5:170148874C>A	AF199597	CCDS34285.1, CCDS34286.1, CCDS4374.1, CCDS64312.1, CCDS64313.1	5q35	2013-01-10			ENSG00000182132	ENSG00000182132		"EF-hand domain containing"	15521	protein-coding gene	gene with protein product		604660				10676964	Standard	NM_001278339		Approved	KCHIP1	uc003map.3	Q9NZI2	OTTHUMG00000130442	ENST00000411494.1:c.327C>A	5.37:g.170148874C>A	ENSP00000395323:p.Phe109Leu					KCNIP1_ENST00000390656.4_Missense_Mutation_p.F98L|KCNIP1_ENST00000411494.1_Missense_Mutation_p.F109L|KCNIP1_ENST00000520740.1_Missense_Mutation_p.F70L|KCNIP1_ENST00000377360.4_Missense_Mutation_p.F107L|KCNIP1_ENST00000434108.1_Missense_Mutation_p.F123L	p.F98L	NM_001034837.1|NM_014592.2	NP_001030009.1|NP_055407.1	Q9NZI2	KCIP1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		4	831	+	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	109			EF-hand 2.		B7Z7B4|Q3YAD0|Q3YAD1|Q3YAD2|Q3YAD3|Q5U822	Missense_Mutation	SNP	ENST00000411494.1	37	c.294C>A	CCDS34286.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.887209	0.72410	.	.	ENSG00000182132	ENST00000377360;ENST00000328939;ENST00000390656;ENST00000520740;ENST00000434108;ENST00000411494	T;T;T;T;T;T	0.80393	0.08;0.08;0.08;0.08;-1.37;0.08	5.5	0.0795	0.14416	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.84611	0.5510	M	0.63208	1.945	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;0.998;0.998	D;D;D;D	0.81914	0.993;0.995;0.913;0.913	T	0.80977	-0.1141	9	.	.	.	.	9.0138	0.36157	0.0:0.4642:0.0:0.5358	.	123;98;109;107	Q3YAD0;Q3YAD2;Q9NZI2;Q3YAD3	.;.;KCIP1_HUMAN;.	L	107;98;98;70;123;109	ENSP00000366577:F107L;ENSP00000329686:F98L;ENSP00000375071:F98L;ENSP00000431102:F70L;ENSP00000414886:F123L;ENSP00000395323:F109L	.	F	+	3	2	KCNIP1	170081452	0.990000	0.36364	0.998000	0.56505	0.993000	0.82548	0.221000	0.17680	0.041000	0.15688	-0.140000	0.14226	TTC		0.547	KCNIP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000371760.1			9	125	1	0	2.62144e-13	1	2.77564e-13	9	125					A	170148874	C	A	170148874	3	1	61	1	0	0	0	0	1	0	0	0	8039	883	31	4	437	4	KCNIP1	5	170148874	Missense_Mutation	SNP	C	TCGA-DE-A4M9-01A-11D-A257-08	37613815	170148874	10766386	5	1417											
C9orf47	286223	broad.mit.edu	37	chr9	91606052	91606052	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	caagcctgttcccgctgggtCtctgggcgcccggtttctgc	13	15	2	0			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr9:91606052C>G	ENST00000334490.5	+	1	210	c.142C>G	c.(142-144)Ctc>Gtc	p.L48V	S1PR3_ENST00000358157.2_5'Flank|C9orf47_ENST00000375850.3_Missense_Mutation_p.L48V|C9orf47_ENST00000375851.2_Missense_Mutation_p.L48V			Q6ZRZ4	CI047_HUMAN	chromosome 9 open reading frame 47	48						extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|liver(1)|lung(1)	4						CCCGCTGGGTCTCTGGGCGCC	0.672																																						ENST00000375851.2																			0				endometrium(1)|large_intestine(1)|liver(1)|lung(1)	4						c.(142-144)Ctc>Gtc		chromosome 9 open reading frame 47							14	17	16					9																	91606052		2202	4299	6501	SO:0001583	missense	286223					extracellular region		g.chr9:91606052C>G	AK094842	CCDS35062.1, CCDS47989.1	9q22.1	2008-02-05	2004-11-04		ENSG00000186354	ENSG00000186354			23669	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 108"	C9orf108			Standard	NM_001001938		Approved	FLJ37523, bA791O21.3	uc004aqc.2	Q6ZRZ4	OTTHUMG00000020172	ENST00000334490.5:c.142C>G	9.37:g.91606052C>G	ENSP00000335616:p.Leu48Val					C9orf47_ENST00000375850.3_Missense_Mutation_p.L48V|C9orf47_ENST00000334490.5_Missense_Mutation_p.L48V	p.L48V	NM_001001938.3|NM_001142413.1	NP_001001938.1|NP_001135885.1	Q6ZRZ4	CI047_HUMAN			1	275	+			48					B7ZMC7|Q5SQD7|Q7Z568|Q8N1V4	Missense_Mutation	SNP	ENST00000334490.5	37	c.142C>G	CCDS35062.1	.	.	.	.	.	.	.	.	.	.	C	9.805	1.181505	0.21787	.	.	ENSG00000186354	ENST00000375851;ENST00000375850;ENST00000334490	.	.	.	2.48	-0.716	0.11212	.	.	.	.	.	T	0.16214	0.0390	N	0.08118	0	0.09310	N	1	B;B	0.25351	0.124;0.124	B;B	0.24155	0.051;0.051	T	0.21280	-1.0250	8	0.87932	D	0	.	3.3368	0.07103	0.0:0.5068:0.2191:0.2742	.	48;48	Q6ZRZ4;Q6ZRZ4-2	CI047_HUMAN;.	V	48	.	ENSP00000335616:L48V	L	+	1	0	C9orf47	90795872	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.079000	0.11357	-0.153000	0.11137	0.486000	0.48141	CTC		0.672	C9orf47-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355972.1	NM_182599		5	10	0	0	0	1	0	5	10					G	91606052	C	G	91606052	3	3	61	1	0	0	0	0	1	0	0	0	2485	913	32	4	144	4	C9orf47	9	91606052	Missense_Mutation	SNP	C	TCGA-DE-A4M9-01A-11D-A257-08		91606052	49607379	6	1418											
OR13C8	138802	broad.mit.edu	37	chr9	107331756	107331756	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgtatggtgcaaatgtttaTttcttttgccatgggggcca	12	6	1	0			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr9:107331756T>A	ENST00000335040.1	+	1	308	c.308T>A	c.(307-309)aTt>aAt	p.I103N		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						CAAATGTTTATTTCTTTTGCC	0.488																																						ENST00000335040.1																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						c.(307-309)aTt>aAt		olfactory receptor, family 13, subfamily C, member 8							121	115	117					9																	107331756		2203	4300	6503	SO:0001583	missense	138802				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107331756T>A		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"GPCR / Class A : Olfactory receptors"	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.308T>A	9.37:g.107331756T>A	ENSP00000334068:p.Ile103Asn						p.I103N	NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN			1	308	+			103					Q5VVG0|Q96R44	Missense_Mutation	SNP	ENST00000335040.1	37	c.308T>A	CCDS35090.1	.	.	.	.	.	.	.	.	.	.	T	12.71	2.018446	0.35606	.	.	ENSG00000186943	ENST00000335040	T	0.01347	4.99	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.622240	0.14048	N	0.344982	T	0.03564	0.0102	M	0.79123	2.44	0.27924	N	0.938123	P	0.41080	0.737	B	0.39590	0.304	T	0.12243	-1.0555	10	0.87932	D	0	.	13.301	0.60326	0.0:0.0:0.0:1.0	.	103	Q8NGS7	O13C8_HUMAN	N	103	ENSP00000334068:I103N	ENSP00000334068:I103N	I	+	2	0	OR13C8	106371577	0.010000	0.17322	0.998000	0.56505	0.272000	0.26649	1.777000	0.38604	2.299000	0.77371	0.533000	0.62120	ATT		0.488	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1			6	107	0	0	0	1	0	6	107					A	107331756	T	A	107331756	3	1	61	1	0	0	0	0	1	0	0	0	10938	1493	52	5	310	5	OR13C8	9	107331756	Missense_Mutation	SNP	T	TCGA-DE-A4M9-01A-11D-A257-08	15725704	107331756	33881675	7	1419											
SRPR	6734	broad.mit.edu	37	chr11	126137086	126137087	+	Frame_Shift_Ins	INS	-	-	T													tgccttccttcttggcccccINSttttttttgctattctttgc							TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr11:126137086_126137087insT	ENST00000332118.6	-	4	663_664	c.509_510insA	c.(508-510)aagfs	p.K170fs	FOXRED1_ENST00000442061.2_5'Flank|SRPR_ENST00000532259.1_Frame_Shift_Ins_p.K142fs|FOXRED1_ENST00000263578.5_5'Flank|FOXRED1_ENST00000532125.1_5'Flank|SRPR_ENST00000530680.1_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)|p.K170K(1)		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)		TCTTGGCCCCCTTTTTTTTGCT	0.436																																						ENST00000332118.6																			3	Deletion - Frameshift(2)|Substitution - coding silent(1)	p.K170fs*33(2)|p.K170K(1)	ovary(2)|endometrium(1)	endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21						c.(508-510)aggfs		signal recognition particle receptor (docking protein)			,	0,4262		0,0,2131					,	3.9	1.0			346	1,8253		0,1,4126	no	frameshift,frameshift	SRPR	NM_003139.3,NM_001177842.1	,	0,1,6257	A1A1,A1R,RR		0.0121,0.0,0.0080	,	,		1,12515				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.chr11:126137086_126137087insT	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.510dupA	11.37:g.126137094_126137094dupT	ENSP00000328023:p.Lys170fs					SRPR_ENST00000532259.1_Frame_Shift_Ins_p.R142fs	p.R170fs	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_664	-	all_hematologic(175;0.145)		170					A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Frame_Shift_Ins	INS	ENST00000332118.6	37	c.509_510insA	CCDS31717.1																																																																																				0.436	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	NM_003139		7	258						7	258	---	---	---	---	T	126137087	-	T	126137086	7	5	61	1	0	1	1	0	0	0	0	0	15161	680	24	0	1450	0	SRPR	11	126137086	Frame_Shift_Ins	INS	-	TCGA-DE-A4M9-01A-11D-A257-08		126137086	8869430	8	1420											
KRT85	3891	broad.mit.edu	37	chr12	52758885	52758885	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctccaggttgctctcgcAgcagcgctggttctggtaga	14	11	2	1			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr12:52758885A>G	ENST00000257901.3	-	2	565	c.490T>C	c.(490-492)Tgc>Cgc	p.C164R	KRT85_ENST00000544265.1_5'Flank	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	164	Linker 1.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TTGCTCTCGCAGCAGCGCTGG	0.612																																						ENST00000257901.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(490-492)Tgc>Cgc		keratin 85							55	56	56					12																	52758885		2203	4300	6503	SO:0001583	missense	3891				epidermis development	keratin filament	protein binding|structural molecule activity	g.chr12:52758885A>G	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"-", "Intermediate filaments type II, keratins (basic)"	6462	protein-coding gene	gene with protein product	"hard keratin type II"	602767	"keratin, hair, basic, 5"	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.490T>C	12.37:g.52758885A>G	ENSP00000257901:p.Cys164Arg						p.C164R	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	2	565	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		164			Linker 1.|Rod.		Q9NSB1	Missense_Mutation	SNP	ENST00000257901.3	37	c.490T>C	CCDS8824.1	.	.	.	.	.	.	.	.	.	.	A	14.73	2.623967	0.46840	.	.	ENSG00000135443	ENST00000257901	T	0.74737	-0.87	4.51	4.51	0.55191	Filament (1);	0.000000	0.64402	D	0.000004	T	0.75693	0.3884	L	0.41824	1.3	0.80722	D	1	D	0.54964	0.969	D	0.64321	0.924	T	0.76937	-0.2774	10	0.87932	D	0	.	5.127	0.14890	0.625:0.1502:0.0:0.2248	.	164	P78386	KRT85_HUMAN	R	164	ENSP00000257901:C164R	ENSP00000257901:C164R	C	-	1	0	KRT85	51045152	0.000000	0.05858	0.988000	0.46212	0.553000	0.35397	0.203000	0.17315	1.892000	0.54788	0.402000	0.26972	TGC		0.612	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		11	71	0	0	0	1	0	11	71					G	52758885	A	G	52758885	3	3	61	1	0	0	0	0	1	0	0	0	8499	188	7	3	1065	3	KRT85	12	52758885	Missense_Mutation	SNP	A	TCGA-DE-A4M9-01A-11D-A257-08		52758885	81093010	9	1421											
CACNA1G	8913	broad.mit.edu	37	chr17	48696019	48696019	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattccaccctccccaggacAccctccgggactgtgaccag	8	18	0	1			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr17:48696019A>G	ENST00000359106.5	+	33	5431	c.5431A>G	c.(5431-5433)Acc>Gcc	p.T1811A	CACNA1G_ENST00000507510.2_Missense_Mutation_p.T1811A|CACNA1G_ENST00000442258.2_Missense_Mutation_p.T1770A|CACNA1G_ENST00000512389.1_Missense_Mutation_p.T1800A|CACNA1G_ENST00000507609.1_Missense_Mutation_p.T1804A|CACNA1G_ENST00000505165.1_Missense_Mutation_p.T1811A|CACNA1G_ENST00000513689.2_Missense_Mutation_p.T1766A|CACNA1G_ENST00000507336.1_Missense_Mutation_p.T1800A|CACNA1G_ENST00000510115.1_Missense_Mutation_p.T1777A|CACNA1G_ENST00000502264.1_Missense_Mutation_p.T1788A|CACNA1G_ENST00000515165.1_Missense_Mutation_p.T1811A|CACNA1G_ENST00000515411.1_Missense_Mutation_p.T1793A|CACNA1G_ENST00000514717.1_Missense_Mutation_p.T1754A|CACNA1G_ENST00000429973.2_Missense_Mutation_p.T1793A|CACNA1G_ENST00000354983.4_Missense_Mutation_p.T1777A|CACNA1G_ENST00000513964.1_Missense_Mutation_p.T1766A|CACNA1G_ENST00000515765.1_Missense_Mutation_p.T1800A|CACNA1G_ENST00000360761.4_Missense_Mutation_p.T1788A|CACNA1G_ENST00000507896.1_Missense_Mutation_p.T1800A|CACNA1G_ENST00000358244.5_Missense_Mutation_p.T1777A|CACNA1G_ENST00000503485.1_Missense_Mutation_p.T1777A|CACNA1G_ENST00000510366.1_Missense_Mutation_p.T1759A|CACNA1G_ENST00000514181.1_Missense_Mutation_p.T1786A|CACNA1G_ENST00000352832.5_Missense_Mutation_p.T1777A|CACNA1G_ENST00000514079.1_Missense_Mutation_p.T1818A	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1811					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TCCCCAGGACACCCTCCGGGA	0.562																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(5329-5331)Acc>Gcc		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						39	38	38					17																	48696019		2074	4194	6268	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48696019A>G	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.5431A>G	17.37:g.48696019A>G	ENSP00000352011:p.Thr1811Ala					CACNA1G_ENST00000507510.2_Missense_Mutation_p.T1811A|CACNA1G_ENST00000507609.1_Missense_Mutation_p.T1804A|CACNA1G_ENST00000507336.1_Missense_Mutation_p.T1800A|CACNA1G_ENST00000360761.4_Missense_Mutation_p.T1788A|CACNA1G_ENST00000359106.5_Missense_Mutation_p.T1811A|CACNA1G_ENST00000358244.5_Missense_Mutation_p.T1777A|CACNA1G_ENST00000514181.1_Missense_Mutation_p.T1786A|CACNA1G_ENST00000505165.1_Missense_Mutation_p.T1811A|CACNA1G_ENST00000515765.1_Missense_Mutation_p.T1800A|CACNA1G_ENST00000515411.1_Missense_Mutation_p.T1793A|CACNA1G_ENST00000510366.1_Missense_Mutation_p.T1759A|CACNA1G_ENST00000514717.1_Missense_Mutation_p.T1754A|CACNA1G_ENST00000512389.1_Missense_Mutation_p.T1800A|CACNA1G_ENST00000502264.1_Missense_Mutation_p.T1788A|CACNA1G_ENST00000514079.1_Missense_Mutation_p.T1818A|CACNA1G_ENST00000513689.2_Missense_Mutation_p.T1766A|CACNA1G_ENST00000515165.1_Missense_Mutation_p.T1811A|CACNA1G_ENST00000513964.1_Missense_Mutation_p.T1766A|CACNA1G_ENST00000442258.2_Missense_Mutation_p.T1770A|CACNA1G_ENST00000354983.4_Missense_Mutation_p.T1777A|CACNA1G_ENST00000507896.1_Missense_Mutation_p.T1800A|CACNA1G_ENST00000510115.1_Missense_Mutation_p.T1777A|CACNA1G_ENST00000429973.2_Missense_Mutation_p.T1793A|CACNA1G_ENST00000503485.1_Missense_Mutation_p.T1777A	p.T1777A	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		31	5701	+	Breast(11;6.7e-17)		1811					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.5329A>G	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	a	17.97	3.518874	0.64634	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98192	-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78	4.88	3.77	0.43336	Ion transport (1);	0.288717	0.37761	N	0.001956	D	0.97312	0.9121	N	0.20401	0.57	0.51767	D	0.999939	B;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.256;1.0;0.996;0.99;0.999;0.998;0.995;0.999;0.995;1.0;0.999;0.984;1.0;0.999;0.998;1.0;1.0;0.999;0.999;1.0;0.992;0.981;0.999;0.976;0.995	B;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P	0.97110	0.437;1.0;0.996;0.996;0.999;0.996;0.994;0.999;0.994;0.999;0.998;0.943;0.998;0.998;0.996;0.996;0.992;0.978;0.999;0.999;0.987;0.939;0.998;0.95;0.894	D	0.96751	0.9554	10	0.62326	D	0.03	.	10.7382	0.46137	0.8572:0.0:0.0:0.1428	.	1754;1766;1759;1793;1766;1786;1818;1777;1804;1800;1811;1788;1800;1800;1793;1800;1811;1788;1811;1777;1770;1777;1788;1811;1777	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	A	1788;1777;1777;1770;1788;1800;1766;1754;1759;1777;1811;1800;1766;1804;1777;1811;1786;1800;1818;1777;1811;1793;1793;1811;1800	ENSP00000353990:T1788A;ENSP00000339302:T1777A;ENSP00000347078:T1777A;ENSP00000409759:T1770A;ENSP00000425522:T1788A;ENSP00000426261:T1800A;ENSP00000425451:T1766A;ENSP00000422407:T1754A;ENSP00000426814:T1759A;ENSP00000427238:T1777A;ENSP00000423112:T1811A;ENSP00000420918:T1800A;ENSP00000426172:T1766A;ENSP00000423045:T1804A;ENSP00000427173:T1777A;ENSP00000426098:T1811A;ENSP00000425698:T1786A;ENSP00000426232:T1800A;ENSP00000423317:T1818A;ENSP00000350979:T1777A;ENSP00000352011:T1811A;ENSP00000414388:T1793A;ENSP00000423155:T1793A;ENSP00000422268:T1811A;ENSP00000421518:T1800A	ENSP00000339302:T1777A	T	+	1	0	CACNA1G	46051018	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.372000	0.79612	0.670000	0.31165	0.441000	0.28932	ACC		0.562	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		4	18	0	0	0	1	0	4	18					G	48696019	A	G	48696019	3	3	61	1	0	0	0	0	1	0	0	0	2544	159	6	3	5828	3	CACNA1G	17	48696019	Missense_Mutation	SNP	A	TCGA-DE-A4M9-01A-11D-A257-08		48696019	32499191	10	1422											
HGS	9146	broad.mit.edu	37	chr17	79667546	79667546	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcaggggccactggggcGcaggcggccccccaggccca	16	18	0	0			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr17:79667546G>A	ENST00000329138.4	+	19	2067	c.1932G>A	c.(1930-1932)gcG>gcA	p.A644A	MRPL12_ENST00000333676.3_5'Flank|SLC25A10_ENST00000541223.1_5'Flank|RP13-1032I1.7_ENST00000575312.1_RNA|SLC25A10_ENST00000571730.1_5'Flank	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	644	Gln-rich.|Interaction with NF2.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CCACTGGGGCGCAGGCGGCCC	0.657																																						ENST00000329138.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(1930-1932)gcG>gcA		hepatocyte growth factor-regulated tyrosine kinase substrate							53	58	56					17																	79667546		2203	4300	6503	SO:0001819	synonymous_variant	9146				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding	g.chr17:79667546G>A	D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"Zinc fingers, FYVE domain containing"	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.1932G>A	17.37:g.79667546G>A							p.A644A	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		19	2067	+	all_neural(118;0.0878)|all_lung(278;0.23)		644			Gln-rich.|Interaction with NF2.		Q9NR36	Silent	SNP	ENST00000329138.4	37	c.1932G>A	CCDS11784.1																																																																																				0.657	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		4	55	0	0	0	1	0	4	55					A	79667546	G	A	79667546	2	1	61	1	0	0	0	0	0	0	0	1	7087	1074	38	1		1	HGS	17	79667546	Silent	SNP	G	TCGA-DE-A4M9-01A-11D-A257-08	30971527	79667546	1527664	11	1423											
CDH7	1005	broad.mit.edu	37	chr18	63491897	63491897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggtcttatcaatataacGtcccagagtcattacctgta	7	10	3	1			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr18:63491897G>A	ENST00000397968.2	+	6	1237	c.811G>A	c.(811-813)Gtc>Atc	p.V271I	CDH7_ENST00000323011.3_Missense_Mutation_p.V271I|CDH7_ENST00000536984.2_Missense_Mutation_p.V271I	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	271	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TCAATATAACGTCCCAGAGTC	0.373																																						ENST00000536984.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80						c.(811-813)Gtc>Atc		cadherin 7, type 2							109	102	104					18																	63491897		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63491897G>A	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.811G>A	18.37:g.63491897G>A	ENSP00000381058:p.Val271Ile					CDH7_ENST00000397968.2_Missense_Mutation_p.V271I|CDH7_ENST00000323011.3_Missense_Mutation_p.V271I	p.V271I			Q9ULB5	CADH7_HUMAN			6	1505	+		Esophageal squamous(42;0.129)	271			Cadherin 3.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.811G>A	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810679	0.50421	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.53857	0.6;0.6;0.6	4.65	4.65	0.58169	Cadherin (4);Cadherin-like (1);	0.148280	0.42548	D	0.000698	T	0.48409	0.1498	L	0.60012	1.86	0.80722	D	1	B;P	0.36199	0.111;0.543	B;B	0.29524	0.023;0.103	T	0.52909	-0.8512	10	0.38643	T	0.18	.	17.9028	0.88910	0.0:0.0:1.0:0.0	.	271;271	F5H5X9;Q9ULB5	.;CADH7_HUMAN	I	271	ENSP00000319166:V271I;ENSP00000443030:V271I;ENSP00000381058:V271I	ENSP00000319166:V271I	V	+	1	0	CDH7	61642877	1.000000	0.71417	0.947000	0.38551	0.891000	0.51852	9.256000	0.95535	2.291000	0.77112	0.637000	0.83480	GTC		0.373	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		8	52	0	0	0	1	0	8	52					A	63491897	G	A	63491897	3	1	61	1	0	0	0	0	1	0	0	0	3115	1145	40	1	829	1	CDH7	18	63491897	Missense_Mutation	SNP	G	TCGA-DE-A4M9-01A-11D-A257-08		63491897	14585351	12	1424											
BPI	671	broad.mit.edu	37	chr20	36952353	36952353	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcccgctgcccatgaccgcAtggtatacctgggcctctca	9	16	1	1			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr20:36952353A>T	ENST00000262865.4	+	8	939	c.850A>T	c.(850-852)Atg>Ttg	p.M284L	BPI_ENST00000489102.1_3'UTR|CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	284					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				CCATGACCGCATGGTATACCT	0.537																																						ENST00000262865.4																			0				kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30						c.(850-852)Atg>Ttg		bactericidal/permeability-increasing protein							118	99	105					20																	36952353		2203	4300	6503	SO:0001583	missense	671				defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	g.chr20:36952353A>T	J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"BPI fold containing"	1095	protein-coding gene	gene with protein product	"BPI fold containing family D, member 1"	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.850A>T	20.37:g.36952353A>T	ENSP00000262865:p.Met284Leu					BPI_ENST00000489102.1_3'UTR|CTD-2308N23.2_ENST00000437016.1_RNA	p.M284L	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN			8	939	+		Myeloproliferative disorder(115;0.00878)	284					B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Missense_Mutation	SNP	ENST00000262865.4	37	c.850A>T	CCDS13303.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.268683	0.80469	.	.	ENSG00000101425	ENST00000262865	T	0.35048	1.33	4.5	4.5	0.54988	Lipid-binding serum glycoprotein, C-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.000000	0.85682	D	0.000000	T	0.61438	0.2347	M	0.88979	2.995	0.41187	D	0.986274	D	0.61080	0.989	P	0.62298	0.9	T	0.70317	-0.4905	10	0.87932	D	0	-41.9861	12.1087	0.53827	1.0:0.0:0.0:0.0	.	284	P17213	BPI_HUMAN	L	284	ENSP00000262865:M284L	ENSP00000262865:M284L	M	+	1	0	BPI	36385767	1.000000	0.71417	0.982000	0.44146	0.202000	0.24057	5.757000	0.68766	2.020000	0.59435	0.533000	0.62120	ATG		0.537	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725		4	57	0	0	0	1	0	4	57					T	36952353	A	T	36952353	3	4	61	1	0	0	0	0	1	0	0	0	1490	217	8	5	880	5	BPI	20	36952353	Missense_Mutation	SNP	A	TCGA-DE-A4M9-01A-11D-A257-08		36952353	26073167	13	1425											
EIF3L	51386	broad.mit.edu	37	chr22	38251572	38251572	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttttttcttgatttttagCtggaccaagctgactgaaag	8	6	1	3	rs143207366		TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr22:38251572C>T	ENST00000412331.2	+	4	876	c.294C>T	c.(292-294)agC>agT	p.S98S	EIF3L_ENST00000381683.6_Splice_Site_p.S98S|EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000406934.1_Intron	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGATTTTTAGCTGGACCAAGC	0.428																																						ENST00000412331.2																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.e4-1		eukaryotic translation initiation factor 3, subunit L		C	,	0,4406		0,0,2203	63	62	62		294,294	3.0	1.0	22	dbSNP_134	62	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice,coding-synonymous-near-splice	EIF3L	NM_001242923.1,NM_016091.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	98/517,98/565	38251572	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	51386					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:38251572C>T	AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"eukaryotic translation initiation factor 3, subunit 6 interacting protein", "eukaryotic translation initiation factor 3, subunit E interacting protein"	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.294-1C>T	22.37:g.38251572C>T						EIF3L_ENST00000406934.1_Intron|EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000381683.6_Splice_Site_p.S98_splice	p.S98_splice	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN			4	876	+			98						Splice_Site	SNP	ENST00000412331.2	37	c.293_splice	CCDS13960.1																																																																																				0.428	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091	Silent	3	30	0	0	0	1	0	3	30					T	38251572	C	T	38251572	5	4	61	1	0	0	0	0	0	0	1	0	5022	811	28	2	308	2	EIF3L	22	38251572	Splice_Site	SNP	C	TCGA-DE-A4M9-01A-11D-A257-08		38251572	13052994	14	1426											
WDR65	149465	broad.mit.edu	37	chr1	43663300	43663300	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtctagctacctgcatccGcaaaccccttatagccacct	6	17	1	0	rs372200685		TCGA-DE-A4MA-01A-11D-A257-08	TCGA-DE-A4MA-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a49cc232-3f8a-48fd-b75a-5956c7adc2e8	b9997f86-3401-481d-bd98-a3336618aa57	g.chr1:43663300G>A	ENST00000372492.4	+	7	1523	c.1199G>A	c.(1198-1200)cGc>cAc	p.R400H	RNA5SP46_ENST00000362370.1_RNA|WDR65_ENST00000528956.1_Missense_Mutation_p.R400H	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		400								p.R400H(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACCTGCATCCGCAAACCCCTT	0.458																																						ENST00000372492.4																			1	Substitution - Missense(1)	p.R400H(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(1198-1200)cGc>cAc		WD repeat domain 65		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	180	153	162		1199,1199,1199	5.8	1.0	1		162	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	WDR65	NM_001167965.1,NM_001167966.1,NM_152498.3	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	400/699,400/699,400/699	43663300	1,13005	2203	4300	6503	SO:0001583	missense	149465							g.chr1:43663300G>A																												ENST00000372492.4:c.1199G>A	1.37:g.43663300G>A	ENSP00000361570:p.Arg400His					WDR65_ENST00000528956.1_Missense_Mutation_p.R400H	p.R400H	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN			7	1523	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	400					A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	ENST00000372492.4	37	c.1199G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.497360	0.96355	0.0	1.16E-4	ENSG00000243710	ENST00000372492;ENST00000528956	T;T	0.39997	1.05;3.58	5.76	5.76	0.90799	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.64907	0.2641	M	0.75085	2.285	0.53005	D	0.999964	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.57400	-0.7818	10	0.15499	T	0.54	.	19.9634	0.97258	0.0:0.0:1.0:0.0	.	400;400	Q96MR6;Q96MR6-2	WDR65_HUMAN;.	H	400	ENSP00000361570:R400H;ENSP00000435310:R400H	ENSP00000361570:R400H	R	+	2	0	WDR65	43435887	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.209000	0.95087	2.721000	0.93114	0.563000	0.77884	CGC		0.458	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000384325.1			4	136	0	0	0	1	0	4	136					A	43663300	G	A	43663300	3	1	62	1	0	0	0	0	1	0	0	0	17313	1087	38	1	1221	1	WDR65	1	43663300	Missense_Mutation	SNP	G	TCGA-DE-A4MA-01A-11D-A257-08		43663300	205587321	1	1427											
CELSR2	1952	broad.mit.edu	37	chr1	109795455	109795455	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggatgtgaatgacaatccCcctgtctttgagcaggatga	11	8	1	4			TCGA-DE-A4MA-01A-11D-A257-08	TCGA-DE-A4MA-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a49cc232-3f8a-48fd-b75a-5956c7adc2e8	b9997f86-3401-481d-bd98-a3336618aa57	g.chr1:109795455C>T	ENST00000271332.3	+	1	2815	c.2754C>T	c.(2752-2754)ccC>ccT	p.P918P		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	918	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ATGACAATCCCCCTGTCTTTG	0.562																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(2752-2754)ccC>ccT		cadherin, EGF LAG seven-pass G-type receptor 2							89	88	88					1																	109795455		2203	4300	6503	SO:0001819	synonymous_variant	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109795455C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.2754C>T	1.37:g.109795455C>T							p.P918P	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	2815	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	918			Cadherin 7.		Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.2754C>T	CCDS796.1																																																																																				0.562	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		7	97	0	0	0	1	0	7	97					T	109795455	C	T	109795455	2	4	62	1	0	0	0	0	0	0	0	1	3222	610	22	2		2	CELSR2	1	109795455	Silent	SNP	C	TCGA-DE-A4MA-01A-11D-A257-08	66132155	109795455	139455166	2	1428											
KIF21B	23046	broad.mit.edu	37	chr1	200944674	200944674	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccacttcttgatgccgttatCtcgggagccactgaacagga	10	12	2	2			TCGA-DE-A4MA-01A-11D-A257-08	TCGA-DE-A4MA-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a49cc232-3f8a-48fd-b75a-5956c7adc2e8	b9997f86-3401-481d-bd98-a3336618aa57	g.chr1:200944674C>T	ENST00000422435.2	-	33	4883	c.4567G>A	c.(4567-4569)Gat>Aat	p.D1523N	KIF21B_ENST00000332129.2_Missense_Mutation_p.D1510N|KIF21B_ENST00000360529.5_Missense_Mutation_p.D1510N|KIF21B_ENST00000461742.2_Missense_Mutation_p.D1523N	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1523					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						ATGCCGTTATCTCGGGAGCCA	0.597																																						ENST00000332129.2																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(4528-4530)Gat>Aat		kinesin family member 21B							123	99	107					1																	200944674		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200944674C>T	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.4567G>A	1.37:g.200944674C>T	ENSP00000411831:p.Asp1523Asn					KIF21B_ENST00000360529.5_Missense_Mutation_p.D1510N|KIF21B_ENST00000422435.2_Missense_Mutation_p.D1523N|KIF21B_ENST00000461742.2_Missense_Mutation_p.D1523N	p.D1510N	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			32	4844	-			1523					B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.4528G>A	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	C	33	5.233946	0.95207	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45	5.0	5.0	0.66597	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	0.95692	0.8599	H	0.96111	3.77	0.58432	D	0.999995	D;D;D;D	0.58620	0.983;0.983;0.983;0.978	P;P;P;P	0.57679	0.741;0.825;0.741;0.624	D	0.97274	0.9913	10	0.87932	D	0	.	17.9092	0.88929	0.0:1.0:0.0:0.0	.	1510;1523;1523;1510	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	N	1510;1510;1523;1523;1523	ENSP00000328494:D1510N;ENSP00000353724:D1510N;ENSP00000433808:D1523N;ENSP00000411831:D1523N	ENSP00000328494:D1510N	D	-	1	0	KIF21B	199211297	1.000000	0.71417	0.866000	0.34008	0.764000	0.43329	7.734000	0.84928	2.302000	0.77476	0.561000	0.74099	GAT		0.597	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		31	37	0	0	0	1	0	31	37					T	200944674	C	T	200944674	3	4	62	1	0	0	0	0	1	0	0	0	8289	913	32	2	358	2	KIF21B	1	200944674	Missense_Mutation	SNP	C	TCGA-DE-A4MA-01A-11D-A257-08	91149219	200944674	48305947	3	1429											
FSCN1	6624	broad.mit.edu	37	chr7	5632695	5632695	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgccagcagcctgaagaagaAgcagatctggacgctggagc	14	11	1	4			TCGA-DE-A4MA-01A-11D-A257-08	TCGA-DE-A4MA-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a49cc232-3f8a-48fd-b75a-5956c7adc2e8	b9997f86-3401-481d-bd98-a3336618aa57	g.chr7:5632695A>G	ENST00000382361.3	+	1	242	c.128A>G	c.(127-129)aAg>aGg	p.K43R	FSCN1_ENST00000340250.6_Splice_Site_p.N43S	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin actin-bundling protein 1	43					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|cell motility (GO:0048870)|cell proliferation (GO:0008283)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|invadopodium (GO:0071437)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|drug binding (GO:0008144)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		CTGAAGAAGAAGCAGATCTGG	0.672																																						ENST00000382361.3																			0				central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(127-129)aAg>aGg		fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)							12	11	11					7																	5632695		2175	4255	6430	SO:0001583	missense	6624				actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging	g.chr7:5632695A>G	U03057	CCDS5342.1	7p22	2014-02-03	2014-02-03	2002-09-20	ENSG00000075618	ENSG00000075618		"Fascins"	11148	protein-coding gene	gene with protein product	"Singed, drosophila, homolog-like", "actin bundling protein"	602689	"singed (Drosophila)-like (sea urchin fascin homolog like)", "fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)"	SNL		8068206, 10783262	Standard	NM_003088		Approved	p55, FLJ38511	uc003sou.3	Q16658	OTTHUMG00000090599	ENST00000382361.3:c.128A>G	7.37:g.5632695A>G	ENSP00000371798:p.Lys43Arg					FSCN1_ENST00000340250.6_Splice_Site_p.N43_splice	p.K43R	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)	1	242	+		Ovarian(82;0.0694)	43					A6NI89|B2RE97|Q96IC5|Q96IH1|Q9BRF1	Missense_Mutation	SNP	ENST00000382361.3	37	c.128A>G	CCDS5342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.6|20.6	4.016387|4.016387	0.75161|0.75161	.|.	.|.	ENSG00000075618|ENSG00000075618	ENST00000382361|ENST00000340250	T|T	0.21031|0.16196	2.03|2.36	3.28|3.28	3.28|3.28	0.37604|0.37604	Fascin domain (1);Actin cross-linking (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.23532|0.23532	0.0569|0.0569	L|L	0.49571|0.49571	1.57|1.57	0.24112|0.24112	N|N	0.995832|0.995832	D|.	0.67145|.	0.996|.	D|.	0.75020|.	0.985|.	T|T	0.09662|0.09662	-1.0664|-1.0664	10|7	0.66056|0.87932	D|D	0.02|0	-0.4993|-0.4993	9.6099|9.6099	0.39657|0.39657	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	43|.	Q16658|.	FSCN1_HUMAN|.	R|S	43|43	ENSP00000371798:K43R|ENSP00000339729:N43S	ENSP00000371798:K43R|ENSP00000339729:N43S	K|N	+|+	2|2	0|0	FSCN1|FSCN1	5599221|5599221	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.617000|0.617000	0.37484|0.37484	8.470000|8.470000	0.90399|0.90399	1.365000|1.365000	0.46057|0.46057	0.379000|0.379000	0.24179|0.24179	AAG|AAC		0.672	FSCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207153.3	NM_003088		4	11	0	0	0	1	0	4	11					G	5632695	A	G	5632695	3	3	62	1	0	0	0	0	1	0	0	0	6067	72	3	3	130	3	FSCN1	7	5632695	Missense_Mutation	SNP	A	TCGA-DE-A4MA-01A-11D-A257-08		5632695	153505968	4	1430											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DE-A4MA-01A-11D-A257-08	TCGA-DE-A4MA-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a49cc232-3f8a-48fd-b75a-5956c7adc2e8	b9997f86-3401-481d-bd98-a3336618aa57	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		28	39	0	0	0	1	0	28	39					T	140453136	A	T	140453136	3	4	62	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DE-A4MA-01A-11D-A257-08	134820441	140453136	18685527	5	1431											
MUC6	4588	broad.mit.edu	37	chr11	1017661	1017663	+	In_Frame_Del	DEL	TGT	TGT	-													actggtggggttgggggtgaTgttggtggtagaagttgagg							TCGA-DE-A4MA-01A-11D-A257-08	TCGA-DE-A4MA-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a49cc232-3f8a-48fd-b75a-5956c7adc2e8	b9997f86-3401-481d-bd98-a3336618aa57	g.chr11:1017661_1017663delTGT	ENST00000421673.2	-	31	5188_5190	c.5138_5140delACA	c.(5137-5142)aacatc>atc	p.N1713del		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1713	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTGGGGGTGATGTTGGTGGTAGA	0.527																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(5137-5142)atc>a		mucin 6, oligomeric mucus/gel-forming																																				SO:0001651	inframe_deletion	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1017661_1017663delTGT	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5138_5140delACA	11.37:g.1017661_1017663delTGT	ENSP00000406861:p.Asn1713del						p.NI1713del	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	5188_5190	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1713			Approximate repeats.|Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	In_Frame_Del	DEL	ENST00000421673.2	37	c.5138_5140delACA	CCDS44513.1																																																																																				0.527	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		12	1159						12	1159	---	---	---	---	-	1017663	TGT	-	1017661	7	5	62	1	0	1	0	1	0	0	0	0	9980	1464	51	0	2191	0	MUC6	11	1017661	In_Frame_Del	DEL	TGT	TCGA-DE-A4MA-01A-11D-A257-08		1017661	133988855	6	1432											
OR4P4	81300	broad.mit.edu	37	chr11	55406191	55406191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacagggatggcctatgacCgctatgtggccatttgcaag	12	10	1	1			TCGA-DE-A4MA-01A-11D-A257-08	TCGA-DE-A4MA-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a49cc232-3f8a-48fd-b75a-5956c7adc2e8	b9997f86-3401-481d-bd98-a3336618aa57	g.chr11:55406191C>T	ENST00000314612.2	+	1	358	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GGCCTATGACCGCTATGTGGC	0.403																																						ENST00000314612.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						c.(358-360)Cgc>Tgc		olfactory receptor, family 4, subfamily P, member 4							94	82	86					11																	55406191		2180	4017	6197	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406191C>T	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"GPCR / Class A : Olfactory receptors"	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.358C>T	11.37:g.55406191C>T	ENSP00000324831:p.Arg120Cys						p.R120C	NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN			1	358	+			120						Missense_Mutation	SNP	ENST00000314612.2	37	c.358C>T	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	C	9.066	0.995711	0.19043	.	.	ENSG00000181927	ENST00000314612	T	0.77358	-1.09	5.37	1.42	0.22433	GPCR, rhodopsin-like superfamily (1);	0.175331	0.27927	N	0.017297	T	0.71871	0.3391	M	0.69523	2.12	0.43637	D	0.996037	B	0.26318	0.146	B	0.24974	0.057	T	0.65121	-0.6245	10	0.72032	D	0.01	-3.8644	6.3502	0.21370	0.0:0.5465:0.2439:0.2096	.	120	Q8NGL7	OR4P4_HUMAN	C	120	ENSP00000324831:R120C	ENSP00000324831:R120C	R	+	1	0	OR4P4	55162767	0.025000	0.19082	0.966000	0.40874	0.062000	0.15995	0.315000	0.19451	0.008000	0.14787	0.637000	0.83480	CGC		0.403	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		40	57	0	0	0	1	0	40	57					T	55406191	C	T	55406191	3	4	62	1	0	0	0	0	1	0	0	0	11080	652	23	1	360	1	OR4P4	11	55406191	Missense_Mutation	SNP	C	TCGA-DE-A4MA-01A-11D-A257-08	54388530	55406191	79600325	7	1433											
GIF	2694	broad.mit.edu	37	chr11	59608637	59608637	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgcatggcgaggccagtactGtagatgtctccaatgatgcc	12	10	1	2			TCGA-DE-A4MA-01A-11D-A257-08	TCGA-DE-A4MA-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a49cc232-3f8a-48fd-b75a-5956c7adc2e8	b9997f86-3401-481d-bd98-a3336618aa57	g.chr11:59608637G>C	ENST00000257248.2	-	5	719	c.672C>G	c.(670-672)taC>taG	p.Y224*	GIF_ENST00000541311.1_Nonsense_Mutation_p.Y199*	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	224					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	GGCCAGTACTGTAGATGTCTC	0.468																																					NSCLC(53;1139 1245 16872 38474 42853)	ENST00000541311.1																			0				large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(595-597)taC>taG		gastric intrinsic factor (vitamin B synthesis)							260	226	237					11																	59608637		2201	4295	6496	SO:0001587	stop_gained	2694				cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding	g.chr11:59608637G>C	X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.672C>G	11.37:g.59608637G>C	ENSP00000257248:p.Tyr224*					GIF_ENST00000257248.2_Nonsense_Mutation_p.Y224*	p.Y199*			P27352	IF_HUMAN			5	831	-			224					B2RAN8|B4DVZ1	Nonsense_Mutation	SNP	ENST00000257248.2	37	c.597C>G	CCDS7977.1	.	.	.	.	.	.	.	.	.	.	G	36	5.670423	0.96754	.	.	ENSG00000134812	ENST00000257248;ENST00000541311	.	.	.	5.52	3.41	0.39046	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.4514	7.3358	0.26609	0.2352:0.0:0.7648:0.0	.	.	.	.	X	224;199	.	ENSP00000257248:Y224X	Y	-	3	2	GIF	59365213	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	0.720000	0.25896	0.628000	0.30357	0.484000	0.47621	TAC		0.468	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394497.1	NM_005142		10	91	0	0	0	1	0	10	91					C	59608637	G	C	59608637	4	2	62	1	0	0	0	0	0	1	0	0	6376	1372	48	4	601	4	GIF	11	59608637	Nonsense_Mutation	SNP	G	TCGA-DE-A4MA-01A-11D-A257-08	4202446	59608637	75397879	8	1434											
HIP1R	9026	broad.mit.edu	37	chr12	123343408	123343408	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cctccgccctggtggcagctCtgacccgcttctcccacctg	9	20	2	1			TCGA-DE-A4MA-01A-11D-A257-08	TCGA-DE-A4MA-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a49cc232-3f8a-48fd-b75a-5956c7adc2e8	b9997f86-3401-481d-bd98-a3336618aa57	g.chr12:123343408C>G	ENST00000253083.4	+	21	2199	c.2074C>G	c.(2074-2076)Ctg>Gtg	p.L692V		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	692					receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		GGTGGCAGCTCTGACCCGCTT	0.672																																						ENST00000253083.4																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26						c.(2074-2076)Ctg>Gtg		huntingtin interacting protein 1 related							46	52	50					12																	123343408		2203	4299	6502	SO:0001583	missense	9026				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding	g.chr12:123343408C>G	AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.2074C>G	12.37:g.123343408C>G	ENSP00000253083:p.Leu692Val						p.L692V	NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)	21	2199	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		692					A6NHQ6|Q6NXG8|Q9UED9	Missense_Mutation	SNP	ENST00000253083.4	37	c.2074C>G	CCDS31922.1	.	.	.	.	.	.	.	.	.	.	C	7.851	0.723916	0.15439	.	.	ENSG00000130787	ENST00000253083	T	0.10763	2.84	5.15	3.25	0.37280	.	0.000000	0.85682	D	0.000000	T	0.08044	0.0201	L	0.43923	1.385	0.46521	D	0.999081	B	0.23650	0.089	B	0.24269	0.052	T	0.10776	-1.0615	10	0.07482	T	0.82	-14.4429	8.1411	0.31084	0.0:0.7277:0.1309:0.1413	.	692	O75146	HIP1R_HUMAN	V	692	ENSP00000253083:L692V	ENSP00000253083:L692V	L	+	1	2	HIP1R	121909361	0.108000	0.22018	1.000000	0.80357	0.888000	0.51559	0.641000	0.24720	1.130000	0.42092	0.561000	0.74099	CTG		0.672	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1	NM_003959		9	78	0	0	0	1	0	9	78					G	123343408	C	G	123343408	3	3	62	1	0	0	0	0	1	0	0	0	7115	912	32	4	2156	4	HIP1R	12	123343408	Missense_Mutation	SNP	C	TCGA-DE-A4MA-01A-11D-A257-08		123343408	10508487	9	1435											
PPP2R1A	5518	broad.mit.edu	37	chr19	52719042	52719042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtctgcagctccagaaagCagtggggcctgagatcacca	12	12	2	2			TCGA-DE-A4MA-01A-11D-A257-08	TCGA-DE-A4MA-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a49cc232-3f8a-48fd-b75a-5956c7adc2e8	b9997f86-3401-481d-bd98-a3336618aa57	g.chr19:52719042C>T	ENST00000322088.6	+	7	876	c.818C>T	c.(817-819)gCa>gTa	p.A273V	PPP2R1A_ENST00000462990.1_Missense_Mutation_p.A94V|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.A218V	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	273	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CTCCAGAAAGCAGTGGGGCCT	0.577			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"protein phosphatase 2, regulatory subunit A, alpha"			E			clear cell ovarian carcinoma		0				NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(817-819)gCa>gTa		protein phosphatase 2, regulatory subunit A, alpha							60	59	60					19																	52719042		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52719042C>T		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9302	protein-coding gene	gene with protein product	"protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A"	605983	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.818C>T	19.37:g.52719042C>T	ENSP00000324804:p.Ala273Val					PPP2R1A_ENST00000462990.1_Missense_Mutation_p.A94V|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.A218V	p.A273V	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	7	876	+			273			PP2A subunit B binding.|Polyoma small and medium T antigens Binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.818C>T	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.975313	0.74360	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.04234	3.67;3.67	4.67	4.67	0.58626	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000006	T	0.07818	0.0196	M	0.71581	2.175	0.80722	D	1	P;B;B	0.40144	0.704;0.012;0.012	B;B;B	0.33196	0.159;0.007;0.007	T	0.10753	-1.0616	10	0.49607	T	0.09	-6.7782	15.501	0.75698	0.0:1.0:0.0:0.0	.	218;273;273	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	V	263;193;273;218	ENSP00000324804:A273V;ENSP00000415067:A218V	ENSP00000324804:A273V	A	+	2	0	PPP2R1A	57410854	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.796000	0.75145	2.595000	0.87683	0.655000	0.94253	GCA		0.577	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		29	43	0	0	0	1	0	29	43					T	52719042	C	T	52719042	3	4	62	1	0	0	0	0	1	0	0	0	12382	710	25	2	844	2	PPP2R1A	19	52719042	Missense_Mutation	SNP	C	TCGA-DE-A4MA-01A-11D-A257-08		52719042	6409941	10	1436											
NLRP11	204801	broad.mit.edu	37	chr19	56321703	56321703	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctttgcatgcctcctgattGcctaatccagcgagtacagg	10	12	0	1			TCGA-DE-A4MA-01A-11D-A257-08	TCGA-DE-A4MA-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a49cc232-3f8a-48fd-b75a-5956c7adc2e8	b9997f86-3401-481d-bd98-a3336618aa57	g.chr19:56321703G>T	ENST00000589093.1	-	3	366	c.273C>A	c.(271-273)cgC>cgA	p.R91R	NLRP11_ENST00000589824.2_Splice_Site_p.R91R|NLRP11_ENST00000443188.1_Splice_Site_p.R91R|NLRP11_ENST00000592953.1_5'UTR|NLRP11_ENST00000360133.3_Splice_Site_p.R91R			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	91	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CCTCCTGATTGCCTAATCCAG	0.343																																						ENST00000443188.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66						c.e5-1		NLR family, pyrin domain containing 11							38	37	38					19																	56321703		2200	4293	6493	SO:0001630	splice_region_variant	204801						ATP binding	g.chr19:56321703G>T	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"Nucleotide-binding domain and leucine rich repeat containing"	22945	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"	609664	"NACHT, leucine rich repeat and PYD containing 11"	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.272-1C>A	19.37:g.56321703G>T						NLRP11_ENST00000592953.1_5'UTR|NLRP11_ENST00000360133.3_Splice_Site_p.R91_splice|NLRP11_ENST00000589093.1_Splice_Site_p.R91_splice|NLRP11_ENST00000589824.2_Splice_Site_p.R91_splice	p.R91_splice	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	5	983	-		Colorectal(82;0.0002)	91			DAPIN.		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Splice_Site	SNP	ENST00000589093.1	37	c.271_splice	CCDS12935.1																																																																																				0.343	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007	Silent	22	21	1	0	3.62473e-10	1	3.93542e-10	22	21					T	56321703	G	T	56321703	5	4	62	1	0	0	0	0	0	0	1	0	10473	1333	46	4	2860	4	NLRP11	19	56321703	Splice_Site	SNP	G	TCGA-DE-A4MA-01A-11D-A257-08	3602661	56321703	2807280	11	1437											
MIB2	142678	broad.mit.edu	37	chr1	1560433	1560433	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggatgtggagacaggccggAgtgtggccagcgtgacgtgg	21	7	0	2			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr1:1560433A>T	ENST00000357210.4	+	6	979	c.763A>T	c.(763-765)Agt>Tgt	p.S255C	MIB2_ENST00000378712.1_Intron|MIB2_ENST00000378708.1_Missense_Mutation_p.S197C|MIB2_ENST00000520777.1_Missense_Mutation_p.S312C|MIB2_ENST00000504599.1_Missense_Mutation_p.S211C|MIB2_ENST00000518681.1_Intron|MIB2_ENST00000360522.4_Missense_Mutation_p.S255C|MIB2_ENST00000355826.5_Missense_Mutation_p.S298C|MIB2_ENST00000505820.2_Missense_Mutation_p.S312C|MIB2_ENST00000378710.3_Missense_Mutation_p.S255C	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	255	MIB/HERC2 2. {ECO:0000255|PROSITE- ProRule:PRU00749}.				Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	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;6.04e-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;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GACAGGCCGGAGTGTGGCCAG	0.662																																						ENST00000357210.4																			0				central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18						c.(763-765)Agt>Tgt		mindbomb E3 ubiquitin protein ligase 2							61	72	68					1																	1560433		2200	4298	6498	SO:0001583	missense	142678				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:1560433A>T	AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"Zinc fingers, ZZ-type", "Ankyrin repeat domain containing"	30577	protein-coding gene	gene with protein product		611141	"zinc finger, ZZ type with ankyrin repeat domain 1", "mindbomb homolog 2 (Drosophila)"	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000357210.4:c.763A>T	1.37:g.1560433A>T	ENSP00000349741:p.Ser255Cys					MIB2_ENST00000378712.1_Intron|MIB2_ENST00000520777.1_Missense_Mutation_p.S312C|MIB2_ENST00000360522.4_Missense_Mutation_p.S255C|MIB2_ENST00000378710.3_Missense_Mutation_p.S255C|MIB2_ENST00000355826.5_Missense_Mutation_p.S298C|MIB2_ENST00000378708.1_Missense_Mutation_p.S197C|MIB2_ENST00000518681.1_Intron|MIB2_ENST00000505820.2_Missense_Mutation_p.S312C|MIB2_ENST00000504599.1_Missense_Mutation_p.S211C	p.S255C	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	6	979	+	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;6.04e-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)	255			MIB/HERC2 2.		A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Missense_Mutation	SNP	ENST00000357210.4	37	c.763A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.98|19.98	3.926845|3.926845	0.73327|0.73327	.|.	.|.	ENSG00000197530|ENSG00000197530	ENST00000514234|ENST00000520777;ENST00000357210;ENST00000360522;ENST00000378710;ENST00000355826;ENST00000505820;ENST00000504599;ENST00000378708	.|T;T;T;T;T;T;T;T	.|0.46451	.|0.87;0.91;0.96;0.97;0.89;0.87;0.91;1.0	5.01|5.01	5.01|5.01	0.66863|0.66863	.|Mib-herc2 (2);	.|0.091767	.|0.64402	.|D	.|0.000001	T|T	0.66877|0.66877	0.2834|0.2834	M|M	0.84846|0.84846	2.72|2.72	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.71674	.|0.996;0.998;0.995;0.992	.|D;D;P;D	.|0.70487	.|0.967;0.926;0.878;0.969	T|T	0.73563|0.73563	-0.3943|-0.3943	5|10	.|0.87932	.|D	.|0	-0.0015|-0.0015	13.8918|13.8918	0.63744|0.63744	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|255;312;241;255	.|Q96AX9-5;E9PGU1;Q96AX9-2;Q96AX9	.|.;.;.;MIB2_HUMAN	V|C	105|312;255;255;255;298;312;211;197	.|ENSP00000428660:S312C;ENSP00000349741:S255C;ENSP00000353713:S255C;ENSP00000367982:S255C;ENSP00000348081:S298C;ENSP00000426103:S312C;ENSP00000426128:S211C;ENSP00000367980:S197C	.|ENSP00000348081:S298C	E|S	+|+	2|1	0|0	MIB2|MIB2	1550296|1550296	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	8.879000|8.879000	0.92398|0.92398	1.880000|1.880000	0.54463|0.54463	0.379000|0.379000	0.24179|0.24179	GAG|AGT		0.662	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_080875		32	47	0	0	0	1	0	32	47					T	1560433	A	T	1560433	3	4	63	1	0	0	0	0	1	0	0	0	9567	304	11	5	956	5	MIB2	1	1560433	Missense_Mutation	SNP	A	TCGA-DE-A4MB-01A-11D-A257-08		1560433	247690188	1	1438											
ZBTB8OS	339487	broad.mit.edu	37	chr1	33099302	33099302	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagccattcatccaaaaagtGaaacagaagagactgtaagt	8	7	1	3			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr1:33099302G>T	ENST00000468695.1	-	4	325	c.307C>A	c.(307-309)Cac>Aac	p.H103N	ZBTB8OS_ENST00000373501.2_Missense_Mutation_p.H91N|ZBTB8OS_ENST00000492007.1_Intron|ZBTB8OS_ENST00000341885.5_Intron	NM_178547.2	NP_848642.1	Q8IWT0	ARCH_HUMAN	zinc finger and BTB domain containing 8 opposite strand	91					tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	extracellular vesicular exosome (GO:0070062)|tRNA-splicing ligase complex (GO:0072669)	metal ion binding (GO:0046872)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TCCAAAAAGTGAAACAGAAGA	0.318																																						ENST00000468695.1																			0				endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						c.(307-309)Cac>Aac		zinc finger and BTB domain containing 8 opposite strand							53	56	55					1																	33099302		2203	4300	6503	SO:0001583	missense	339487							g.chr1:33099302G>T	AY151084	CCDS365.1	1p35.1	2010-09-30			ENSG00000176261	ENSG00000176261			24094	protein-coding gene	gene with protein product	"archease"	615891				12477932	Standard	NM_178547		Approved	ARCH	uc001bvp.3	Q8IWT0	OTTHUMG00000007856	ENST00000468695.1:c.307C>A	1.37:g.33099302G>T	ENSP00000417677:p.His103Asn					ZBTB8OS_ENST00000373501.2_Missense_Mutation_p.H91N|ZBTB8OS_ENST00000492007.1_Intron|ZBTB8OS_ENST00000341885.5_Intron	p.H103N	NM_178547.2	NP_848642.1	Q8IWT0	ARCH_HUMAN			4	325	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	91					Q5TGK5|Q6PDA1|Q8IWS9|Q8NEV6|Q8NEV7	Missense_Mutation	SNP	ENST00000468695.1	37	c.307C>A	CCDS365.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.09|14.09	2.431925|2.431925	0.43122|0.43122	.|.	.|.	ENSG00000176261|ENSG00000176261	ENST00000468695;ENST00000373501|ENST00000436661	.|.	.|.	.|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.042928|.	0.85682|.	D|.	0.000000|.	T|.	0.55016|.	0.1894|.	N|N	0.20881|0.20881	0.62|0.62	0.80722|0.80722	D|D	1|1	B;B|.	0.18166|.	0.003;0.026|.	B;B|.	0.18561|.	0.006;0.022|.	T|.	0.48681|.	-0.9014|.	9|.	0.16896|.	T|.	0.51|.	-16.3216|-16.3216	18.5382|18.5382	0.91018|0.91018	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	91;103|.	Q8IWT0-2;A8K0B5|.	.;.|.	N|X	103;91|101	.|.	ENSP00000362600:H91N|.	H|S	-|-	1|2	0|0	ZBTB8OS|ZBTB8OS	32871889|32871889	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.536000|4.536000	0.60636|0.60636	2.699000|2.699000	0.92147|0.92147	0.655000|0.655000	0.94253|0.94253	CAC|TCA		0.318	ZBTB8OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021669.3	NM_178547		5	43	1	0	1.23904e-05	1	1.32352e-05	5	43					T	33099302	G	T	33099302	3	4	63	1	0	0	0	0	1	0	0	0	17554	1290	45	4	248	4	ZBTB8OS	1	33099302	Missense_Mutation	SNP	G	TCGA-DE-A4MB-01A-11D-A257-08	31538869	33099302	216151319	2	1439											
CSMD2	114784	broad.mit.edu	37	chr1	34076666	34076666	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tactccagcttgaatcctggCcgattctgggagtggtcgct	12	11	1	1			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr1:34076666C>G	ENST00000373380.1	-	20	3157	c.2937G>C	c.(2935-2937)cgG>cgC	p.R979R	CSMD2_ENST00000373377.1_Silent_p.R205R|CSMD2_ENST00000373388.2_Silent_p.R205R|CSMD2_ENST00000373381.4_Silent_p.R2106R			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2066	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGAATCCTGGCCGATTCTGGG	0.567																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(6316-6318)cgG>cgC		CUB and Sushi multiple domains 2							109	93	99					1																	34076666		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34076666C>G	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.2937G>C	1.37:g.34076666C>G						CSMD2_ENST00000373380.1_Silent_p.R979R|CSMD2_ENST00000373377.1_Silent_p.R205R|CSMD2_ENST00000373388.2_Silent_p.R205R	p.R2106R	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			41	6494	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2066					B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373380.1	37	c.6318G>C																																																																																					0.567	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		7	29	0	0	0	1	0	7	29					G	34076666	C	G	34076666	2	3	63	1	0	0	0	0	0	0	0	1	3945	726	26	4		4	CSMD2	1	34076666	Silent	SNP	C	TCGA-DE-A4MB-01A-11D-A257-08	977364	34076666	215173955	3	1440											
SLC2A1	6513	broad.mit.edu	37	chr1	43395605	43395605	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagcggggactctcggggcaGaagggcagcacgatgcactg	17	10	1	1			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr1:43395605G>A	ENST00000426263.3	-	5	796	c.618C>T	c.(616-618)ttC>ttT	p.F206F	SLC2A1_ENST00000415851.2_Intron|SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	206					carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	TCTCGGGGCAGAAGGGCAGCA	0.642																																						ENST00000426263.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13						c.(616-618)ttC>ttT		solute carrier family 2 (facilitated glucose transporter), member 1	Etomidate(DB00292)						86	83	84					1																	43395605		2203	4300	6503	SO:0001819	synonymous_variant	6513				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr1:43395605G>A	K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"Solute carriers"	11005	protein-coding gene	gene with protein product		138140	"human T-cell leukemia virus (I and II) receptor"	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.618C>T	1.37:g.43395605G>A						SLC2A1_ENST00000475162.1_Intron|SLC2A1_ENST00000415851.2_Intron	p.F206F	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN			5	796	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)	206					A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Silent	SNP	ENST00000426263.3	37	c.618C>T	CCDS477.1																																																																																				0.642	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020358.2	NM_006516		5	86	0	0	0	1	0	5	86					A	43395605	G	A	43395605	2	1	63	1	0	0	0	0	0	0	0	1	14538	933	33	2		2	SLC2A1	1	43395605	Silent	SNP	G	TCGA-DE-A4MB-01A-11D-A257-08	9318939	43395605	205855016	4	1441											
FMO3	2328	broad.mit.edu	37	chr1	171083277	171083277	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgaggatgggaccatatttGagggcattgactgtgtaatc	13	5	0	3			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr1:171083277G>T	ENST00000367755.4	+	7	1069	c.958G>T	c.(958-960)Gag>Tag	p.E320*	FMO3_ENST00000538429.1_Nonsense_Mutation_p.E257*|FMO3_ENST00000392085.2_Nonsense_Mutation_p.E320*|FMO3_ENST00000542847.1_Nonsense_Mutation_p.E300*	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	320					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	GACCATATTTGAGGGCATTGA	0.433																																						ENST00000367755.4																			0				endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31						c.(958-960)Gag>Tag		flavin containing monooxygenase 3							158	143	148					1																	171083277		2203	4300	6503	SO:0001587	stop_gained	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171083277G>T	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.958G>T	1.37:g.171083277G>T	ENSP00000356729:p.Glu320*					FMO3_ENST00000392085.2_Nonsense_Mutation_p.E320*|FMO3_ENST00000542847.1_Nonsense_Mutation_p.E300*|FMO3_ENST00000538429.1_Nonsense_Mutation_p.E257*	p.E320*	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN			7	1069	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		320					B2R816|Q14854|Q8N5N5	Nonsense_Mutation	SNP	ENST00000367755.4	37	c.958G>T	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240686	0.79912	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	.	.	.	4.73	2.86	0.33363	.	0.199502	0.52532	D	0.000076	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-17.8591	10.5498	0.45081	0.1592:0.0:0.8408:0.0	.	.	.	.	X	320;320;300;257	.	ENSP00000356729:E320X	E	+	1	0	FMO3	169349901	1.000000	0.71417	0.998000	0.56505	0.301000	0.27625	3.035000	0.49759	0.519000	0.28406	0.650000	0.86243	GAG		0.433	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894		41	67	1	0	9.84934e-19	1	1.10219e-18	41	67					T	171083277	G	T	171083277	4	4	63	1	0	0	0	0	0	1	0	0	5956	1291	45	4	980	4	FMO3	1	171083277	Nonsense_Mutation	SNP	G	TCGA-DE-A4MB-01A-11D-A257-08	127687672	171083277	78167344	5	1442											
MIA3	375056	broad.mit.edu	37	chr1	222803243	222803243	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggcacagaaagccaggggtCtgctgctgcagaacctgaag	15	10	1	3			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr1:222803243C>T	ENST00000344922.5	+	4	2706	c.2681C>T	c.(2680-2682)tCt>tTt	p.S894F	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.S894F	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	894					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGCCAGGGGTCTGCTGCTGCA	0.517																																						ENST00000344922.5																			0				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80						c.(2680-2682)tCt>tTt		melanoma inhibitory activity family, member 3							43	43	43					1																	222803243		1962	4145	6107	SO:0001583	missense	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222803243C>T		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"C219 reactive peptide", "transport and golgi organization"	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.2681C>T	1.37:g.222803243C>T	ENSP00000340900:p.Ser894Phe					MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.S894F|MIA3_ENST00000344507.1_Intron	p.S894F	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	4	2706	+			894					A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.2681C>T	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	c	14.25	2.480510	0.44044	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831	T;T	0.04917	3.53;3.53	5.13	2.15	0.27550	.	.	.	.	.	T	0.06188	0.0160	L	0.53249	1.67	0.09310	N	1	B;P	0.36199	0.011;0.543	B;B	0.31390	0.011;0.129	T	0.33445	-0.9868	9	0.40728	T	0.16	.	5.2312	0.15422	0.2851:0.5611:0.0:0.1538	.	894;894	Q5JRA6-2;Q5JRA6	.;MIA3_HUMAN	F	894	ENSP00000340900:S894F;ENSP00000340587:S894F	ENSP00000325973:S894F	S	+	2	0	MIA3	220869866	0.001000	0.12720	0.000000	0.03702	0.016000	0.09150	1.257000	0.32932	0.240000	0.21263	-0.461000	0.05368	TCT		0.517	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		4	77	0	0	0	1	0	4	77					T	222803243	C	T	222803243	3	4	63	1	0	0	0	0	1	0	0	0	9565	913	32	2	2695	2	MIA3	1	222803243	Missense_Mutation	SNP	C	TCGA-DE-A4MB-01A-11D-A257-08	51719966	222803243	26447378	6	1443											
TIMP4	7079	broad.mit.edu	37	chr3	12198945	12198945	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcagggtctgcactggcCggaactaccttctcactgga	11	13	3	0			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr3:12198945C>T	ENST00000287814.4	-	2	687	c.177G>A	c.(175-177)ccG>ccA	p.P59P	SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4	59	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|ovulation cycle (GO:0042698)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)	extracellular space (GO:0005615)|sarcomere (GO:0030017)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						CTGCACTGGCCGGAACTACCT	0.522																																					Melanoma(199;1446 2144 30617 38794 51714)	ENST00000287814.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						c.(175-177)ccG>ccA		TIMP metallopeptidase inhibitor 4							101	91	95					3																	12198945		2203	4300	6503	SO:0001819	synonymous_variant	7079						metal ion binding|metalloendopeptidase inhibitor activity	g.chr3:12198945C>T	U76456	CCDS2608.1	3p25	2005-10-31	2005-08-08		ENSG00000157150	ENSG00000157150			11823	protein-coding gene	gene with protein product		601915	"tissue inhibitor of metalloproteinase 4"			8939999, 9693046	Standard	NM_003256		Approved		uc003bwo.3	Q99727	OTTHUMG00000129763	ENST00000287814.4:c.177G>A	3.37:g.12198945C>T						SYN2_ENST00000432424.2_RNA	p.P59P	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN			2	687	-			59			NTR.		B2R7K6	Silent	SNP	ENST00000287814.4	37	c.177G>A	CCDS2608.1																																																																																				0.522	TIMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251978.1	NM_003256		3	30	0	0	0	1	0	3	30					T	12198945	C	T	12198945	2	4	63	1	0	0	0	0	0	0	0	1	15917	639	23	1		1	TIMP4	3	12198945	Silent	SNP	C	TCGA-DE-A4MB-01A-11D-A257-08		12198945	185823485	7	1444											
GOLIM4	27333	broad.mit.edu	37	chr3	167728142	167728142	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cctcctcgtagtgttcctctCggcctttggggcggttgtca	12	13	2	0	rs542482925		TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr3:167728142C>A	ENST00000470487.1	-	16	2695	c.2006G>T	c.(2005-2007)cGa>cTa	p.R669L	GOLIM4_ENST00000309027.4_Missense_Mutation_p.R641L	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	669	Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GTGTTCCTCTCGGCCTTTGGG	0.423																																						ENST00000470487.1																			0				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2005-2007)cGa>cTa		golgi integral membrane protein 4							163	157	159					3																	167728142		2203	4300	6503	SO:0001583	missense	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167728142C>A	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"golgi phosphoprotein 4"	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.2006G>T	3.37:g.167728142C>A	ENSP00000417354:p.Arg669Leu					GOLIM4_ENST00000309027.4_Missense_Mutation_p.R641L	p.R669L	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN			16	2695	-			669			Glu-rich.			Missense_Mutation	SNP	ENST00000470487.1	37	c.2006G>T	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.714822	0.30413	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	5.27	1.96	0.26148	.	0.651463	0.15824	N	0.242877	T	0.33818	0.0876	M	0.63428	1.95	0.09310	N	1	P;P	0.46142	0.873;0.873	B;B	0.42851	0.4;0.4	T	0.11743	-1.0575	9	0.30854	T	0.27	-5.8023	8.0632	0.30646	0.0:0.6342:0.0:0.3658	.	641;669	F8W785;O00461	.;GOLI4_HUMAN	L	669;641	.	ENSP00000309893:R641L	R	-	2	0	GOLIM4	169210836	0.901000	0.30685	0.145000	0.22337	0.010000	0.07245	0.251000	0.18257	0.709000	0.31976	-0.163000	0.13421	CGA		0.423	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			5	83	1	0	0.000157383	1	0.000160805	5	83					A	167728142	C	A	167728142	3	1	63	1	0	0	0	0	1	0	0	0	6566	884	31	4	88	4	GOLIM4	3	167728142	Missense_Mutation	SNP	C	TCGA-DE-A4MB-01A-11D-A257-08	155529197	167728142	30294288	8	1445											
DCAF4L1	285429	broad.mit.edu	37	chr4	41984086	41984086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttcgtagtgaaccaggtcGaagtcgaaggctccaagtac	11	10	1	1			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr4:41984086G>A	ENST00000333141.5	+	1	374	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	93										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						GAACCAGGTCGAAGTCGAAGG	0.537																																						ENST00000333141.5																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						c.(277-279)Gaa>Aaa		DDB1 and CUL4 associated factor 4-like 1							90	80	84					4																	41984086		2203	4300	6503	SO:0001583	missense	285429							g.chr4:41984086G>A	BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"WD repeat domain containing"	27723	protein-coding gene	gene with protein product			"WD repeat domain 21B"	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.277G>A	4.37:g.41984086G>A	ENSP00000327796:p.Glu93Lys						p.E93K	NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN			1	374	+			93					B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Missense_Mutation	SNP	ENST00000333141.5	37	c.277G>A	CCDS33978.1	.	.	.	.	.	.	.	.	.	.	G	5.827	0.336772	0.11013	.	.	ENSG00000182308	ENST00000333141	T	0.37915	1.17	0.688	0.688	0.18027	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.569183	0.21082	N	0.080475	T	0.10809	0.0264	N	0.05414	-0.055	0.24544	N	0.994052	B	0.33694	0.421	B	0.15052	0.012	T	0.35176	-0.9799	9	0.02654	T	1	.	.	.	.	.	93	Q3SXM0	DC4L1_HUMAN	K	93	ENSP00000327796:E93K	ENSP00000327796:E93K	E	+	1	0	DCAF4L1	41678843	1.000000	0.71417	0.283000	0.24790	0.697000	0.40408	3.091000	0.50199	0.635000	0.30488	0.313000	0.20887	GAA		0.537	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360958.1	NM_001029955		19	50	0	0	0	1	0	19	50					A	41984086	G	A	41984086	3	1	63	1	0	0	0	0	1	0	0	0	4271	1059	37	1	279	1	DCAF4L1	4	41984086	Missense_Mutation	SNP	G	TCGA-DE-A4MB-01A-11D-A257-08		41984086	149170190	9	1446											
CCDC158	339965	broad.mit.edu	37	chr4	77247129	77247129	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagacttcttaggagaagaaTtgaatgaacgagaagctgag	13	4	1	7	rs201687534	byFrequency	TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr4:77247129T>C	ENST00000388914.3	-	22	3190	c.3038A>G	c.(3037-3039)aAt>aGt	p.N1013S		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	1013	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						AGGAGAAGAATTGAATGAACG	0.368													T|||	2	0.000399361	0	0	5008	,	,		19996	0		0.002	False		,,,				2504	0					ENST00000388914.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						c.(3037-3039)aAt>aGt		coiled-coil domain containing 158							156	150	152					4																	77247129		1846	4091	5937	SO:0001583	missense	339965							g.chr4:77247129T>C	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.3038A>G	4.37:g.77247129T>C	ENSP00000373566:p.Asn1013Ser						p.N1013S	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN			22	3190	-			1013			Ser-rich.		Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	ENST00000388914.3	37	c.3038A>G	CCDS43242.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	0.029	-1.349100	0.01266	.	.	ENSG00000163749	ENST00000388914;ENST00000318586	T	0.26373	1.74	4.53	-2.59	0.06209	.	1.118960	0.06681	N	0.767908	T	0.11024	0.0269	N	0.08118	0	0.54753	D	0.999986	B	0.02656	0.0	B	0.01281	0.0	T	0.25950	-1.0117	10	0.24483	T	0.36	.	5.2175	0.15350	0.0:0.4061:0.1676:0.4263	.	1013	Q5M9N0	CD158_HUMAN	S	1013;433	ENSP00000373566:N1013S	ENSP00000316815:N433S	N	-	2	0	CCDC158	77466153	0.938000	0.31826	0.991000	0.47740	0.029000	0.11900	-0.351000	0.07711	-0.259000	0.09432	-0.375000	0.07067	AAT		0.368	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		50	95	0	0	0	1	0	50	95					C	77247129	T	C	77247129	3	2	63	1	0	0	0	0	1	0	0	0	2790	1493	52	3	315	3	CCDC158	4	77247129	Missense_Mutation	SNP	T	TCGA-DE-A4MB-01A-11D-A257-08	35263043	77247129	113907147	10	1447											
DDX4	54514	broad.mit.edu	37	chr5	55082457	55082457	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctatcatacttgcaggaCgagatttgatggcttgcgct	10	9	1	2			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr5:55082457C>T	ENST00000505374.1	+	14	1068	c.976C>T	c.(976-978)Cga>Tga	p.R326*	DDX4_ENST00000353507.5_Nonsense_Mutation_p.R292*|DDX4_ENST00000354991.5_Nonsense_Mutation_p.R292*|DDX4_ENST00000514278.2_Nonsense_Mutation_p.R306*|DDX4_ENST00000511853.1_Nonsense_Mutation_p.R177*	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	326	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				ACTTGCAGGACGAGATTTGAT	0.413																																						ENST00000505374.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(976-978)Cga>Tga		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4							117	112	114					5																	55082457		2203	4300	6503	SO:0001587	stop_gained	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55082457C>T	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"DEAD-boxes"	18700	protein-coding gene	gene with protein product		605281	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.976C>T	5.37:g.55082457C>T	ENSP00000424838:p.Arg326*					DDX4_ENST00000511853.1_Nonsense_Mutation_p.R177*|DDX4_ENST00000354991.5_Nonsense_Mutation_p.R292*|DDX4_ENST00000514278.2_Nonsense_Mutation_p.R306*|DDX4_ENST00000353507.5_Nonsense_Mutation_p.R292*	p.R326*	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN			14	1068	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	326			Helicase ATP-binding.		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Nonsense_Mutation	SNP	ENST00000505374.1	37	c.976C>T	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	C	31	5.093870	0.94149	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000354991;ENST00000511853	.	.	.	5.07	-0.303	0.12792	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3108	15.9128	0.79485	0.5997:0.4003:0.0:0.0	.	.	.	.	X	292;306;326;306;292;177	.	ENSP00000334167:R292X	R	+	1	2	DDX4	55118214	0.999000	0.42202	0.824000	0.32777	0.997000	0.91878	1.432000	0.34936	-0.258000	0.09446	0.591000	0.81541	CGA		0.413	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		4	83	0	0	0	1	0	4	83					T	55082457	C	T	55082457	4	4	63	1	0	0	0	0	0	1	0	0	4360	528	19	1	1067	1	DDX4	5	55082457	Nonsense_Mutation	SNP	C	TCGA-DE-A4MB-01A-11D-A257-08		55082457	125832803	11	1448											
FBXO9	26268	broad.mit.edu	37	chr6	52945836	52945836	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tccagcagcaactcacatttCaggagtctgtgcttaaactg	8	11	3	0			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr6:52945836C>G	ENST00000244426.6	+	5	680	c.508C>G	c.(508-510)Cag>Gag	p.Q170E	FBXO9_ENST00000370939.3_Missense_Mutation_p.Q126E|FBXO9_ENST00000323557.7_Missense_Mutation_p.Q160E	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN	F-box protein 9	170					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|protein ubiquitination (GO:0016567)|regulation of TOR signaling (GO:0032006)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					ACTCACATTTCAGGAGTCTGT	0.393																																						ENST00000244426.6																			0				kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9						c.(508-510)Cag>Gag		F-box protein 9							126	124	124					6																	52945836		1952	4162	6114	SO:0001583	missense	26268					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr6:52945836C>G	AF155114	CCDS55022.1, CCDS55023.1, CCDS55024.1	6p12.3-p11.2	2004-06-15	2004-06-15		ENSG00000112146	ENSG00000112146		"F-boxes /  "other""	13588	protein-coding gene	gene with protein product		609091	"F-box only protein 9"			10531035, 10531037	Standard	NM_012347		Approved	FBX9, NY-REN-57	uc021zao.1	Q9UK97	OTTHUMG00000014869	ENST00000244426.6:c.508C>G	6.37:g.52945836C>G	ENSP00000244426:p.Gln170Glu					FBXO9_ENST00000370939.3_Missense_Mutation_p.Q126E|FBXO9_ENST00000323557.7_Missense_Mutation_p.Q160E	p.Q170E	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN			5	680	+	Lung NSC(77;0.103)		170					A6NFW3|B3KMM6|O75986|Q59EH8|Q6PKH7|Q9NT57|Q9Y593	Missense_Mutation	SNP	ENST00000244426.6	37	c.508C>G	CCDS55023.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.378592	0.24944	.	.	ENSG00000112146	ENST00000498744;ENST00000370939;ENST00000323557;ENST00000244426	T;T;T	0.76316	-1.0;-1.01;-1.01	5.06	5.06	0.68205	.	0.175312	0.52532	D	0.000069	T	0.56441	0.1985	L	0.50333	1.59	0.44323	D	0.997208	B;B;B	0.14805	0.001;0.011;0.002	B;B;B	0.15484	0.007;0.013;0.003	T	0.60737	-0.7204	10	0.02654	T	1	-0.6805	18.3638	0.90384	0.0:1.0:0.0:0.0	.	160;277;170	Q9UK97-2;Q59EH8;Q9UK97	.;.;FBX9_HUMAN	E	126;126;160;170	ENSP00000359977:Q126E;ENSP00000326968:Q160E;ENSP00000244426:Q170E	ENSP00000244426:Q170E	Q	+	1	0	FBXO9	53053795	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	5.579000	0.67457	2.495000	0.84180	0.591000	0.81541	CAG		0.393	FBXO9-002	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040950.3			10	56	0	0	0	1	0	10	56					G	52945836	C	G	52945836	3	3	63	1	0	0	0	0	1	0	0	0	5762	827	29	4	533	4	FBXO9	6	52945836	Missense_Mutation	SNP	C	TCGA-DE-A4MB-01A-11D-A257-08		52945836	118169231	12	1449											
IQUB	154865	broad.mit.edu	37	chr7	123152231	123152231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcaacatgtattgcatggCtctcactgaattgttctatt	6	10	3	1			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr7:123152231C>T	ENST00000466202.1	-	2	740	c.164G>A	c.(163-165)aGc>aAc	p.S55N	IQUB_ENST00000434450.1_Missense_Mutation_p.S55N|IQUB_ENST00000324698.6_Missense_Mutation_p.S55N|IQUB_ENST00000488987.1_Intron	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	55					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TATTGCATGGCTCTCACTGAA	0.423																																						ENST00000466202.1																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						c.(163-165)aGc>aAc		IQ motif and ubiquitin domain containing							233	198	210					7																	123152231		2203	4300	6503	SO:0001583	missense	154865							g.chr7:123152231C>T	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.164G>A	7.37:g.123152231C>T	ENSP00000417769:p.Ser55Asn					IQUB_ENST00000434450.1_Missense_Mutation_p.S55N|IQUB_ENST00000488987.1_Intron|IQUB_ENST00000324698.6_Missense_Mutation_p.S55N	p.S55N			Q8NA54	IQUB_HUMAN			2	740	-			55					A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	ENST00000466202.1	37	c.164G>A	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	C	6.734	0.504253	0.12822	.	.	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	T;T;T	0.42900	1.97;1.97;0.96	4.82	-1.07	0.09968	.	1.619340	0.03939	N	0.286630	T	0.23210	0.0561	N	0.14661	0.345	0.09310	N	1	B;B;B	0.27625	0.183;0.063;0.038	B;B;B	0.21917	0.028;0.037;0.016	T	0.12578	-1.0542	10	0.31617	T	0.26	.	3.8972	0.09144	0.1782:0.2854:0.0:0.5364	.	55;55;55	A1A4Z1;Q8NA54-2;Q8NA54	.;.;IQUB_HUMAN	N	55	ENSP00000417769:S55N;ENSP00000324882:S55N;ENSP00000388498:S55N	ENSP00000324882:S55N	S	-	2	0	IQUB	122939467	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.367000	0.02583	-0.058000	0.13177	-0.262000	0.10625	AGC		0.423	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		34	62	0	0	0	1	0	34	62					T	123152231	C	T	123152231	3	4	63	1	0	0	0	0	1	0	0	0	7820	797	28	2	2259	2	IQUB	7	123152231	Missense_Mutation	SNP	C	TCGA-DE-A4MB-01A-11D-A257-08		123152231	35986432	13	1450											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		26	43	0	0	0	1	0	26	43					T	140453136	A	T	140453136	3	4	63	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DE-A4MB-01A-11D-A257-08	17300905	140453136	18685527	14	1451											
FAM86B2	653333	broad.mit.edu	37	chr8	12286307	12286307	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctcggagctgctcgaggaTccggctgtgagggtcgctga	16	12	0	2	rs2719492	byFrequency	TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr8:12286307T>C	ENST00000262365.4	-	6	576	c.577A>G	c.(577-579)Atc>Gtc	p.I193V	FAM86B2_ENST00000309608.5_Intron|FAM86B2_ENST00000351291.4_Missense_Mutation_p.I159V|FAM86B2_ENST00000393715.3_Intron	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN	family with sequence similarity 86, member B2	193										endometrium(1)|kidney(2)	3						TGCTCGAGGATCCGGCTGTGA	0.602													N|||	2149	0.429113	0.5151	0.4524	5008	,	,		12361	0.3998		0.3738	False		,,,				2504	0.3834					ENST00000262365.4																			0				endometrium(1)|kidney(2)	3						c.(577-579)Atc>Gtc		family with sequence similarity 86, member B2							25	25	25					8																	12286307		229	838	1067	SO:0001583	missense	653333							g.chr8:12286307T>C		CCDS59092.1	8p23.1	2011-07-01			ENSG00000145002	ENSG00000145002			32222	protein-coding gene	gene with protein product							Standard	NM_001137610		Approved		uc003wvt.4	P0C5J1	OTTHUMG00000165462	ENST00000262365.4:c.577A>G	8.37:g.12286307T>C	ENSP00000262365:p.Ile193Val					FAM86B2_ENST00000351291.4_Missense_Mutation_p.I159V|FAM86B2_ENST00000393715.3_Intron|FAM86B2_ENST00000309608.5_Intron	p.I193V	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN			6	576	-			193						Missense_Mutation	SNP	ENST00000262365.4	37	c.577A>G	CCDS59092.1	.	.	.	.	.	.	.	.	.	.	c	0.008	-1.920349	0.00498	.	.	ENSG00000145002	ENST00000262365;ENST00000351291;ENST00000527331	T;T;T	0.16073	2.37;2.37;2.37	1.16	0.202	0.15190	.	.	.	.	.	T	0.02418	0.0074	N	0.00219	-1.825	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43814	-0.9368	9	0.02654	T	1	.	4.1295	0.10143	0.0:0.5837:0.2408:0.1755	.	193	P0C5J1	F86B2_HUMAN	V	193;159;159	ENSP00000262365:I193V;ENSP00000283479:I159V;ENSP00000432491:I159V	ENSP00000262365:I193V	I	-	1	0	FAM86B2	12330678	0.997000	0.39634	0.178000	0.23040	0.042000	0.13812	3.640000	0.54350	-0.331000	0.08501	-3.466000	0.00035	ATC		0.602	FAM86B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_928336		3	32	0	0	0	1	0	3	32					C	12286307	T	C	12286307	3	2	63	1	0	0	0	0	1	0	0	0	5645	1435	50	3	427	3	FAM86B2	8	12286307	Missense_Mutation	SNP	T	TCGA-DE-A4MB-01A-11D-A257-08		12286307	134077715	15	1452											
CPSF1	29894	broad.mit.edu	37	chr8	145624726	145624726	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcgctgccgtacacttcaatCtcgtccacctcatcctgcgg	7	17	3	0			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr8:145624726C>T	ENST00000349769.3	-	14	1426	c.1332G>A	c.(1330-1332)gaG>gaA	p.E444E	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	444					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			ACACTTCAATCTCGTCCACCT	0.662																																					NSCLC(133;1088 1848 27708 34777 35269)	ENST00000349769.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1330-1332)gaG>gaA		cleavage and polyadenylation specific factor 1, 160kDa							50	42	45					8																	145624726		2203	4300	6503	SO:0001819	synonymous_variant	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145624726C>T	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1332G>A	8.37:g.145624726C>T							p.E444E	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		14	1426	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		444					Q96AF0	Silent	SNP	ENST00000349769.3	37	c.1332G>A	CCDS34966.1																																																																																				0.662	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		8	22	0	0	0	1	0	8	22					T	145624726	C	T	145624726	2	4	63	1	0	0	0	0	0	0	0	1	3824	912	32	2		2	CPSF1	8	145624726	Silent	SNP	C	TCGA-DE-A4MB-01A-11D-A257-08	133338419	145624726	739296	16	1453											
KANK1	23189	broad.mit.edu	37	chr9	744525	744525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctcaatcgccctggaagCaggacacaaggacatcgctg	11	13	1	0			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr9:744525C>T	ENST00000382303.1	+	15	4584	c.3932C>T	c.(3931-3933)gCa>gTa	p.A1311V	KANK1_ENST00000382297.2_Missense_Mutation_p.A1311V|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Missense_Mutation_p.A1153V	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1311					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GCCCTGGAAGCAGGACACAAG	0.478																																						ENST00000382303.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(3931-3933)gCa>gTa		KN motif and ankyrin repeat domains 1							163	138	146					9																	744525		2203	4300	6503	SO:0001583	missense	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:744525C>T	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	19309	protein-coding gene	gene with protein product		607704	"ankyrin repeat domain 15"	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3932C>T	9.37:g.744525C>T	ENSP00000371740:p.Ala1311Val					KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Missense_Mutation_p.A1153V|KANK1_ENST00000382297.2_Missense_Mutation_p.A1311V	p.A1311V	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	15	4584	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	1311					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	ENST00000382303.1	37	c.3932C>T	CCDS34976.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613029	0.87258	.	.	ENSG00000107104	ENST00000382303;ENST00000397976;ENST00000382297;ENST00000382293;ENST00000382289;ENST00000382286	T;T;T	0.52983	0.64;0.64;0.64	6.02	6.02	0.97574	Ankyrin repeat-containing domain (3);	0.000000	0.53938	D	0.000050	T	0.68595	0.3018	M	0.82193	2.58	0.80722	D	1	P;B;D	0.56521	0.72;0.163;0.976	P;B;P	0.55011	0.462;0.032;0.766	T	0.71659	-0.4526	10	0.72032	D	0.01	-8.7285	20.5407	0.99260	0.0:1.0:0.0:0.0	.	357;223;1311	F5H7I5;Q5W0W2;Q14678	.;.;KANK1_HUMAN	V	1311;357;1311;1153;289;223	ENSP00000371740:A1311V;ENSP00000371734:A1311V;ENSP00000371730:A1153V	ENSP00000371723:A223V	A	+	2	0	KANK1	734525	1.000000	0.71417	0.399000	0.26333	0.993000	0.82548	7.731000	0.84895	2.865000	0.98341	0.655000	0.94253	GCA		0.478	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		4	88	0	0	0	1	0	4	88					T	744525	C	T	744525	3	4	63	1	0	0	0	0	1	0	0	0	7976	710	25	2	3970	2	KANK1	9	744525	Missense_Mutation	SNP	C	TCGA-DE-A4MB-01A-11D-A257-08		744525	140468906	17	1454											
SLC39A12	221074	broad.mit.edu	37	chr10	18242228	18242228	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtgcttccggacaaagctctCagtatcctgggtgccattgt	11	11	1	0			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr10:18242228C>T	ENST00000377369.2	+	2	296	c.23C>T	c.(22-24)tCa>tTa	p.S8L	SLC39A12_ENST00000377371.3_Missense_Mutation_p.S8L|SLC39A12_ENST00000377374.4_Missense_Mutation_p.S8L|SLC39A12_ENST00000539911.1_Intron	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	8					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						ACAAAGCTCTCAGTATCCTGG	0.502																																						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.(22-24)tCa>tTa		solute carrier family 39 (zinc transporter), member 12							119	120	120					10																	18242228		2203	4300	6503	SO:0001583	missense	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18242228C>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.23C>T	10.37:g.18242228C>T	ENSP00000366586:p.Ser8Leu					SLC39A12_ENST00000539911.1_Intron|SLC39A12_ENST00000377374.4_Missense_Mutation_p.S8L|SLC39A12_ENST00000377371.3_Missense_Mutation_p.S8L	p.S8L	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN			2	296	+			8					B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	c.23C>T	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	C	7.935	0.741461	0.15642	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371	T;T;T	0.22134	1.97;1.97;1.97	5.57	1.14	0.20703	.	1.316580	0.04913	N	0.453598	T	0.18593	0.0446	L	0.43152	1.355	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.004;0.001;0.001	T	0.31752	-0.9932	10	0.16420	T	0.52	-0.8956	8.7861	0.34821	0.0:0.5279:0.3455:0.1265	.	8;8;8	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	L	8	ENSP00000366586:S8L;ENSP00000366591:S8L;ENSP00000366588:S8L	ENSP00000366586:S8L	S	+	2	0	SLC39A12	18282234	0.000000	0.05858	0.001000	0.08648	0.062000	0.15995	-0.147000	0.10234	0.650000	0.30769	0.655000	0.94253	TCA		0.502	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		6	71	0	0	0	1	0	6	71					T	18242228	C	T	18242228	3	4	63	1	0	0	0	0	1	0	0	0	14615	838	29	2	25	2	SLC39A12	10	18242228	Missense_Mutation	SNP	C	TCGA-DE-A4MB-01A-11D-A257-08		18242228	117292519	18	1455											
SPOCK2	9806	broad.mit.edu	37	chr10	73827958	73827958	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcacctggtttgccatcGgcggtggaggtggcagcctg	15	12	1	0			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr10:73827958G>A	ENST00000373109.2	-	6	1020	c.576C>T	c.(574-576)gcC>gcT	p.A192A	SPOCK2_ENST00000536168.1_Silent_p.A192A|SPOCK2_ENST00000317376.4_Silent_p.A192A|SPOCK2_ENST00000460053.1_5'UTR	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	192					extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of cell differentiation (GO:0045595)|signal transduction (GO:0007165)|synapse assembly (GO:0007416)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GTTTGCCATCGGCGGTGGAGG	0.667																																						ENST00000373109.2																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(574-576)gcC>gcT		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2							24	20	21					10																	73827958		2198	4298	6496	SO:0001819	synonymous_variant	9806				extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding	g.chr10:73827958G>A	AJ001453	CCDS7313.1, CCDS44431.1	10q22.1	2013-09-19			ENSG00000107742	ENSG00000107742			13564	protein-coding gene	gene with protein product		607988				10386950	Standard	NM_014767		Approved	KIAA0275, testican-2	uc001jso.2	Q92563	OTTHUMG00000018430	ENST00000373109.2:c.576C>T	10.37:g.73827958G>A						SPOCK2_ENST00000460053.1_5'UTR|SPOCK2_ENST00000317376.4_Silent_p.A192A|SPOCK2_ENST00000536168.1_Silent_p.A192A	p.A192A	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN			6	1020	-			192					C9J767|Q6UW87	Silent	SNP	ENST00000373109.2	37	c.576C>T	CCDS7313.1																																																																																				0.667	SPOCK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048560.2			9	5	0	0	0	1	0	9	5					A	73827958	G	A	73827958	2	1	63	1	0	0	0	0	0	0	0	1	15079	1103	39	1		1	SPOCK2	10	73827958	Silent	SNP	G	TCGA-DE-A4MB-01A-11D-A257-08	55585730	73827958	61706789	19	1456											
PRLHR	2834	broad.mit.edu	37	chr10	120353932	120353932	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaccagcaagcagaaggtGcgccggcgccgagcgcggtc	15	15	0	1			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr10:120353932G>A	ENST00000369169.1	-	1	824	c.825C>T	c.(823-825)cgC>cgT	p.R275R	PRLHR_ENST00000239032.2_Silent_p.R275R			P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	275					feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone metabolic process (GO:0042445)|neuropeptide signaling pathway (GO:0007218)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)|neuropeptide Y receptor activity (GO:0004983)			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		AGCAGAAGGTGCGCCGGCGCC	0.687																																						ENST00000239032.2																			0				large_intestine(2)|lung(8)|ovary(1)|skin(1)	12						c.(823-825)cgC>cgT		prolactin releasing hormone receptor							25	27	27					10																	120353932		2194	4290	6484	SO:0001819	synonymous_variant	2834				female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity	g.chr10:120353932G>A	AB048946	CCDS7606.1	10q25.3-q26	2014-02-21	2005-11-24	2005-11-24	ENSG00000119973	ENSG00000119973		"GPCR / Class A : RF amide peptide receptors"	4464	protein-coding gene	gene with protein product		600895	"G protein-coupled receptor 10"	GPR10		8666380, 15885496	Standard	NM_004248		Approved	PrRPR	uc001ldp.1	P49683	OTTHUMG00000019136	ENST00000369169.1:c.825C>T	10.37:g.120353932G>A						PRLHR_ENST00000369169.1_Silent_p.R275R	p.R275R	NM_004248.2	NP_004239.1	P49683	PRLHR_HUMAN		all cancers(201;0.0166)	2	963	-		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)	275					O75194|Q502U8|Q5VXR9	Silent	SNP	ENST00000369169.1	37	c.825C>T	CCDS7606.1																																																																																				0.687	PRLHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050610.1	NM_004248		6	29	0	0	0	1	0	6	29					A	120353932	G	A	120353932	2	1	63	1	0	0	0	0	0	0	0	1	12530	1306	46	2		2	PRLHR	10	120353932	Silent	SNP	G	TCGA-DE-A4MB-01A-11D-A257-08	46525974	120353932	15180815	20	1457											
CRYL1	51084	broad.mit.edu	37	chr13	21006266	21006266	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctagccgccaggcctcgctgAtgattgcatattgcaggcgg	13	12	0	2			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr13:21006266A>G	ENST00000298248.7	-	5	670	c.608T>C	c.(607-609)aTc>aCc	p.I203T	MIR4499_ENST00000584834.1_RNA|CRYL1_ENST00000480748.1_5'UTR|CRYL1_ENST00000382812.1_Missense_Mutation_p.I181T	NM_015974.2	NP_057058.2	Q9Y2S2	CRYL1_HUMAN	crystallin, lambda 1	203					fatty acid metabolic process (GO:0006631)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|L-gulonate 3-dehydrogenase activity (GO:0050104)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)			NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		GGCCTCGCTGATGATTGCATA	0.587																																						ENST00000382812.1																			0				NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(541-543)aTc>aCc		crystallin, lambda 1							60	67	65					13																	21006266		2101	4222	6323	SO:0001583	missense	51084				fatty acid metabolic process	cytosol	3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity	g.chr13:21006266A>G	AF077049	CCDS41871.1	13q11	2008-07-18			ENSG00000165475	ENSG00000165475			18246	protein-coding gene	gene with protein product	"crystallin, lamda 1", "L-gulonate 3-dehydrogenase", "lambda-crystallin homolog"	609877				12527201	Standard	NM_015974		Approved	GDH, lambda-CRY, MGC149525, MGC149526	uc001une.3	Q9Y2S2	OTTHUMG00000016516	ENST00000298248.7:c.608T>C	13.37:g.21006266A>G	ENSP00000298248:p.Ile203Thr					CRYL1_ENST00000298248.7_Missense_Mutation_p.I203T|CRYL1_ENST00000480748.1_5'UTR	p.I181T			Q9Y2S2	CRYL1_HUMAN		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)	6	770	-		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)	203					A0PJ43|B3KN92|Q0VDI1|Q7Z4Z9|Q9P0G7	Missense_Mutation	SNP	ENST00000298248.7	37	c.542T>C	CCDS41871.1	.	.	.	.	.	.	.	.	.	.	A	16.69	3.192152	0.58017	.	.	ENSG00000165475	ENST00000298248;ENST00000382812	D;D	0.89939	-2.59;-2.59	5.52	5.52	0.82312	3-hydroxyacyl-CoA dehydrogenase, C-terminal (1);3-hydroxyacyl-CoA dehydrogenase, conserved site (1);Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.147080	0.64402	D	0.000012	D	0.90882	0.7135	M	0.63428	1.95	0.80722	D	1	B;P	0.39862	0.327;0.692	B;P	0.48334	0.263;0.574	D	0.91368	0.5117	10	0.59425	D	0.04	-24.4947	15.6494	0.77078	1.0:0.0:0.0:0.0	.	77;203	B4DWM9;Q9Y2S2	.;CRYL1_HUMAN	T	203;181	ENSP00000298248:I203T;ENSP00000372262:I181T	ENSP00000298248:I203T	I	-	2	0	CRYL1	19904266	1.000000	0.71417	0.924000	0.36721	0.961000	0.63080	7.720000	0.84759	2.087000	0.62958	0.459000	0.35465	ATC		0.587	CRYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044071.1	NM_015974		20	32	0	0	0	1	0	20	32					G	21006266	A	G	21006266	3	3	63	1	0	0	0	0	1	0	0	0	3920	333	12	3	367	3	CRYL1	13	21006266	Missense_Mutation	SNP	A	TCGA-DE-A4MB-01A-11D-A257-08		21006266	94163612	21	1458											
AKT1	207	broad.mit.edu	37	chr14	105246445	105246445	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgccacagagaagttgttgAggggagcctcacgttggtcc	15	10	1	2			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr14:105246445A>C	ENST00000554581.1	-	2	1635	c.155T>G	c.(154-156)cTc>cGc	p.L52R	AKT1_ENST00000544168.1_5'Flank|AKT1_ENST00000402615.2_Missense_Mutation_p.L52R|AKT1_ENST00000554848.1_Missense_Mutation_p.L52R|AKT1_ENST00000407796.2_Missense_Mutation_p.L52R|AKT1_ENST00000555528.1_Missense_Mutation_p.L52R|AKT1_ENST00000349310.3_Missense_Mutation_p.L52R			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	52	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.L52R(2)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	GAAGTTGTTGAGGGGAGCCTC	0.592		1	Mis		"breast, colorectal, ovarian, NSCLC"																																	ENST00000554581.1		1		Dom	yes		14	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1			E			"breast, colorectal, ovarian, NSCLC"		2	Substitution - Missense(2)	p.L52R(2)	NS(1)|breast(1)	NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176						c.(154-156)cTc>cGc		v-akt murine thymoma viral oncogene homolog 1	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)						123	109	114					14																	105246445		2203	4300	6503	SO:0001583	missense	207				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	g.chr14:105246445A>C	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"Pleckstrin homology (PH) domain containing"	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.155T>G	14.37:g.105246445A>C	ENSP00000451828:p.Leu52Arg					AKT1_ENST00000555528.1_Missense_Mutation_p.L52R|AKT1_ENST00000554848.1_Missense_Mutation_p.L52R|AKT1_ENST00000407796.2_Missense_Mutation_p.L52R|AKT1_ENST00000402615.2_Missense_Mutation_p.L52R|AKT1_ENST00000349310.3_Missense_Mutation_p.L52R	p.L52R			P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	2	1635	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	52			PH.		B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	ENST00000554581.1	37	c.155T>G	CCDS9994.1	.	.	.	.	.	.	.	.	.	.	A	16.76	3.211549	0.58343	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000554848;ENST00000555926	T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83	4.77	4.77	0.60923	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	D	0.000003	T	0.64681	0.2620	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.68443	-0.5407	10	0.87932	D	0	.	13.2474	0.60029	1.0:0.0:0.0:0.0	.	52	P31749	AKT1_HUMAN	R	52	ENSP00000451828:L52R;ENSP00000384293:L52R;ENSP00000270202:L52R;ENSP00000385326:L52R;ENSP00000450688:L52R;ENSP00000451166:L52R;ENSP00000451824:L52R	ENSP00000270202:L52R	L	-	2	0	AKT1	104317490	1.000000	0.71417	0.690000	0.30148	0.144000	0.21451	5.545000	0.67237	2.004000	0.58718	0.379000	0.24179	CTC		0.592	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163		12	28	0	0	0	1	0	12	28					C	105246445	A	C	105246445	3	2	63	1	0	0	0	0	1	0	0	0	478	304	11	5	1335	5	AKT1	14	105246445	Missense_Mutation	SNP	A	TCGA-DE-A4MB-01A-11D-A257-08		105246445	2103095	22	1459											
AP4E1	23431	broad.mit.edu	37	chr15	51250835	51250835	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accaaattgacatctcaggcGcactcttctaatacagttga	6	11	3	2	rs528918348		TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr15:51250835G>T	ENST00000261842.5	+	14	1801	c.1695G>T	c.(1693-1695)gcG>gcT	p.A565A	AP4E1_ENST00000560508.1_Silent_p.A490A	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	565					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		CATCTCAGGCGCACTCTTCTA	0.353																																						ENST00000261842.5																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27						c.(1693-1695)gcG>gcT		adaptor-related protein complex 4, epsilon 1 subunit							111	110	110					15																	51250835		2196	4294	6490	SO:0001819	synonymous_variant	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51250835G>T	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.1695G>T	15.37:g.51250835G>T						AP4E1_ENST00000560508.1_Silent_p.A490A	p.A565A	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	14	1801	+			565					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Silent	SNP	ENST00000261842.5	37	c.1695G>T	CCDS32240.1																																																																																				0.353	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			17	42	1	0	3.45872e-05	1	3.61244e-05	17	42					T	51250835	G	T	51250835	2	4	63	1	0	0	0	0	0	0	0	1	752	1074	38	4		4	AP4E1	15	51250835	Silent	SNP	G	TCGA-DE-A4MB-01A-11D-A257-08		51250835	51280557	23	1460											
PKM2	5315	broad.mit.edu	37	chr15	72494909	72494909	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taatgggcgccaggcggcggAgttcctcaaataattgcaag	13	9	1	0			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr15:72494909A>T	ENST00000335181.5	-	9	1296	c.1193T>A	c.(1192-1194)cTc>cAc	p.L398H	PKM_ENST00000568459.1_Intron|PKM_ENST00000449901.2_Missense_Mutation_p.L383H|PKM_ENST00000565154.1_Intron|PKM_ENST00000319622.6_Intron|PKM_ENST00000568883.1_Intron|PKM_ENST00000389093.3_Intron|PKM_ENST00000565184.1_Intron	NM_002654.4	NP_002645.3	P14618	KPYM_HUMAN	pyruvate kinase, muscle	398	Interaction with POU5F1.|Intersubunit contact.				carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|programmed cell death (GO:0012501)|small molecule metabolic process (GO:0044281)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			endometrium(1)|lung(7)	8					Pyruvic acid(DB00119)	CAGGCGGCGGAGTTCCTCAAA	0.612																																						ENST00000335181.5																			0				endometrium(1)|lung(7)	8						c.(1192-1194)cTc>cAc		pyruvate kinase, muscle							26	24	25					15																	72494909		2199	4297	6496	SO:0001583	missense	5315							g.chr15:72494909A>T	M23725	CCDS32284.1, CCDS32285.1, CCDS55972.1, CCDS73752.1	15q23	2012-10-02		2012-05-23	ENSG00000067225	ENSG00000067225	2.7.1.40		9021	protein-coding gene	gene with protein product		179050		PKM2		2040271	Standard	NM_002654		Approved	THBP1, OIP3, PK3	uc002atr.1	P14618	OTTHUMG00000172709	ENST00000335181.5:c.1193T>A	15.37:g.72494909A>T	ENSP00000334983:p.Leu398His					PKM_ENST00000389093.3_Intron|PKM_ENST00000565184.1_Intron|PKM_ENST00000449901.2_Missense_Mutation_p.L383H|PKM_ENST00000568883.1_Intron|PKM_ENST00000568459.1_Intron|PKM_ENST00000565154.1_Intron|PKM_ENST00000319622.6_Intron	p.L398H	NM_002654.4	NP_002645.3					9	1296	-								A6NFK3|B2R5N8|B3KRY0|B4DFX8|B4DUU6|P14786|Q53GK4|Q96E76|Q9BWB5|Q9UCV6|Q9UPF2	Missense_Mutation	SNP	ENST00000335181.5	37	c.1193T>A	CCDS32284.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.651771	0.88056	.	.	ENSG00000067225	ENST00000335181;ENST00000434220;ENST00000449901	D;D	0.99158	-5.5;-5.5	5.18	5.18	0.71444	Pyruvate kinase, C-terminal (1);Pyruvate kinase, alpha/beta (1);	.	.	.	.	D	0.99236	0.9734	M	0.82517	2.595	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.74674	0.984;0.975;0.926;0.984	D	0.99308	1.0903	9	0.87932	D	0	.	15.3263	0.74164	1.0:0.0:0.0:0.0	.	324;383;398;325	B4DNK4;B4DUU6;P14618;E9PF79	.;.;KPYM_HUMAN;.	H	398;325;383	ENSP00000334983:L398H;ENSP00000403365:L383H	ENSP00000334983:L398H	L	-	2	0	PKM2	70281963	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	9.339000	0.96797	2.084000	0.62774	0.459000	0.35465	CTC		0.612	PKM-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420056.1			4	20	0	0	0	1	0	4	20					T	72494909	A	T	72494909	3	4	63	1	0	0	0	0	1	0	0	0	11977	304	11	5	414	5	PKM2	15	72494909	Missense_Mutation	SNP	A	TCGA-DE-A4MB-01A-11D-A257-08	21244074	72494909	30036483	24	1461											
KIAA1632	57724	broad.mit.edu	37	chr18	43484051	43484051	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgaaactcatgatagatgCgctccatgttcaaatactcc	6	12	2	3			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr18:43484051C>T	ENST00000282041.5	-	25	4395	c.4361G>A	c.(4360-4362)cGc>cAc	p.R1454H	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1454					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.R1454H(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						ATGATAGATGCGCTCCATGTT	0.443																																						ENST00000282041.5																			1	Substitution - Missense(1)	p.R1454H(1)	large_intestine(1)	NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(4360-4362)cGc>cAc		ectopic P-granules autophagy protein 5 homolog (C. elegans)							146	140	142					18																	43484051		1982	4168	6150	SO:0001583	missense	57724				autophagy			g.chr18:43484051C>T	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.4361G>A	18.37:g.43484051C>T	ENSP00000282041:p.Arg1454His					EPG5_ENST00000585906.1_5'UTR	p.R1454H	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			25	4395	-			1454					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.4361G>A	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673560	0.88445	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.11063	2.81	6.04	6.04	0.98038	.	.	.	.	.	T	0.29976	0.0750	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	T	0.00074	-1.2124	9	0.62326	D	0.03	-10.9235	16.2018	0.82087	0.1408:0.8592:0.0:0.0	.	1454	Q9HCE0	EPG5_HUMAN	H	1454;329	ENSP00000282041:R1454H	ENSP00000282041:R1454H	R	-	2	0	EPG5	41738049	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.041000	0.64196	2.873000	0.98535	0.563000	0.77884	CGC		0.443	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		27	57	0	0	0	1	0	27	57					T	43484051	C	T	43484051	3	4	63	1	0	0	0	0	1	0	0	0	8249	768	27	1	3458	1	KIAA1632	18	43484051	Missense_Mutation	SNP	C	TCGA-DE-A4MB-01A-11D-A257-08		43484051	34593197	25	1462											
COL5A3	50509	broad.mit.edu	37	chr19	10114761	10114761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacagtcggggaggtaccGctcacaagcctggaaggcag	15	11	2	0	rs148469753		TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr19:10114761G>A	ENST00000264828.3	-	5	740	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	219	Laminin G-like.|Nonhelical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGGAGGTACCGCTCACAAGCC	0.602																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(655-657)Cgg>Tgg		collagen, type V, alpha 3		G	TRP/ARG	0,4406		0,0,2203	108	90	97		655	-4.8	0.0	19	dbSNP_134	97	2,8598	2.2+/-6.3	0,2,4298	no	missense	COL5A3	NM_015719.3	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	219/1746	10114761	2,13004	2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10114761G>A	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.655C>T	19.37:g.10114761G>A	ENSP00000264828:p.Arg219Trp						p.R219W	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		5	740	-			219			Nonhelical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.655C>T	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669424	0.47677	0.0	2.33E-4	ENSG00000080573	ENST00000264828	D	0.89681	-2.55	4.87	-4.76	0.03229	Concanavalin A-like lectin/glucanase (1);	1.128190	0.06808	N	0.789850	T	0.78685	0.4322	L	0.38175	1.15	0.09310	N	1	D	0.53885	0.963	B	0.33799	0.17	T	0.71842	-0.4470	10	0.56958	D	0.05	.	10.1544	0.42814	0.0:0.117:0.2881:0.5948	.	219	P25940	CO5A3_HUMAN	W	219	ENSP00000264828:R219W	ENSP00000264828:R219W	R	-	1	2	COL5A3	9975761	0.000000	0.05858	0.020000	0.16555	0.480000	0.33159	-0.475000	0.06599	-0.362000	0.08113	0.449000	0.29647	CGG		0.602	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		21	51	0	0	0	1	0	21	51					A	10114761	G	A	10114761	3	1	63	1	0	0	0	0	1	0	0	0	3698	1086	38	1	4834	1	COL5A3	19	10114761	Missense_Mutation	SNP	G	TCGA-DE-A4MB-01A-11D-A257-08		10114761	49014222	26	1463											
KANK2	25959	broad.mit.edu	37	chr19	11304503	11304503	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggcattggagcacagcgactCagtggacgtccaccaggagc	14	12	1	0			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr19:11304503C>T	ENST00000586659.1	-	4	567	c.253G>A	c.(253-255)Gag>Aag	p.E85K	KANK2_ENST00000355150.5_Missense_Mutation_p.E85K|KANK2_ENST00000589894.1_Missense_Mutation_p.E85K|KANK2_ENST00000432929.2_Missense_Mutation_p.E85K|KANK2_ENST00000589359.1_Missense_Mutation_p.E85K			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	85					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CACAGCGACTCAGTGGACGTC	0.677																																						ENST00000432929.2																			0				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(253-255)Gag>Aag		KN motif and ankyrin repeat domains 2							35	37	37					19																	11304503		2203	4298	6501	SO:0001583	missense	25959							g.chr19:11304503C>T	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	29300	protein-coding gene	gene with protein product		614610	"matrix-remodelling associated 3", "ankyrin repeat domain 25"	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.253G>A	19.37:g.11304503C>T	ENSP00000465650:p.Glu85Lys					KANK2_ENST00000355150.5_Missense_Mutation_p.E85K|KANK2_ENST00000586659.1_Missense_Mutation_p.E85K|KANK2_ENST00000589894.1_Missense_Mutation_p.E85K|KANK2_ENST00000589359.1_Missense_Mutation_p.E85K	p.E85K	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN			4	613	-			85					B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Missense_Mutation	SNP	ENST00000586659.1	37	c.253G>A	CCDS12255.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.027952	0.93518	.	.	ENSG00000197256	ENST00000432929;ENST00000355150	T;T	0.63417	-0.04;-0.02	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.78342	0.4268	M	0.74881	2.28	0.49051	D	0.999744	D;D;D	0.71674	0.996;0.996;0.998	D;D;D	0.80764	0.99;0.954;0.994	T	0.81929	-0.0708	10	0.72032	D	0.01	-32.3734	15.7129	0.77644	0.0:1.0:0.0:0.0	.	85;85;85	Q63ZY3-3;Q63ZY3;Q63ZY3-2	.;KANK2_HUMAN;.	K	85	ENSP00000395650:E85K;ENSP00000347276:E85K	ENSP00000347276:E85K	E	-	1	0	KANK2	11165503	1.000000	0.71417	0.959000	0.39883	0.919000	0.55068	7.136000	0.77285	1.986000	0.57962	0.462000	0.41574	GAG		0.677	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		6	86	0	0	0	1	0	6	86					T	11304503	C	T	11304503	3	4	63	1	0	0	0	0	1	0	0	0	7977	835	29	2	2366	2	KANK2	19	11304503	Missense_Mutation	SNP	C	TCGA-DE-A4MB-01A-11D-A257-08	1189742	11304503	47824480	27	1464											
RBL1	5933	broad.mit.edu	37	chr20	35651085	35651085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataaaaggcacaaaggaggaGctgatccaaatgcctgtctt	10	8	1	1			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr20:35651085G>A	ENST00000373664.3	-	17	2593	c.2527C>T	c.(2527-2529)Ctc>Ttc	p.L843F	RBL1_ENST00000344359.3_Missense_Mutation_p.L843F	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	843	Domain B.|Pocket; binds T and E1A.				chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CAAAGGAGGAGCTGATCCAAA	0.418																																						ENST00000373664.3																			0				NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42						c.(2527-2529)Ctc>Ttc		retinoblastoma-like 1 (p107)							118	113	115					20																	35651085		2203	4300	6503	SO:0001583	missense	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35651085G>A	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.2527C>T	20.37:g.35651085G>A	ENSP00000362768:p.Leu843Phe					RBL1_ENST00000344359.3_Missense_Mutation_p.L843F	p.L843F	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN			17	2593	-		Myeloproliferative disorder(115;0.00878)	843			Domain B.|Pocket; binds T and E1A.		A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	37	c.2527C>T	CCDS13289.1	.	.	.	.	.	.	.	.	.	.	G	31	5.062371	0.93898	.	.	ENSG00000080839	ENST00000373664;ENST00000344359	D;D	0.92752	-3.1;-3.1	5.39	5.39	0.77823	Retinoblastoma-associated protein, B-box (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	D	0.96571	0.8881	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.989;0.996	D	0.96901	0.9660	10	0.72032	D	0.01	-7.7152	19.175	0.93600	0.0:0.0:1.0:0.0	.	843;843	P28749-2;P28749	.;RBL1_HUMAN	F	843	ENSP00000362768:L843F;ENSP00000343646:L843F	ENSP00000343646:L843F	L	-	1	0	RBL1	35084499	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.812000	0.86109	2.541000	0.85698	0.555000	0.69702	CTC		0.418	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		6	71	0	0	0	1	0	6	71					A	35651085	G	A	35651085	3	1	63	1	0	0	0	0	1	0	0	0	13109	971	34	2	712	2	RBL1	20	35651085	Missense_Mutation	SNP	G	TCGA-DE-A4MB-01A-11D-A257-08		35651085	27374435	28	1465											
CDH26	60437	broad.mit.edu	37	chr20	58547113	58547113	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttggtttgttttctctagaaGatcatgagaacggaaggata	11	4	2	3			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr20:58547113G>T	ENST00000244047.5	+	4	639	c.328G>T	c.(328-330)Gat>Tat	p.D110Y	CDH26_ENST00000348616.4_Missense_Mutation_p.D110Y			Q8IXH8	CAD26_HUMAN	cadherin 26	110	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)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TTCTCTAGAAGATCATGAGAA	0.383																																						ENST00000348616.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(328-330)Gat>Tat		cadherin 26							156	146	149					20																	58547113		2203	4300	6503	SO:0001583	missense	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58547113G>T	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"Cadherins / Major cadherins"	15902	protein-coding gene	gene with protein product			"cadherin-like 26"				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.328G>T	20.37:g.58547113G>T	ENSP00000244047:p.Asp110Tyr					CDH26_ENST00000244047.5_Missense_Mutation_p.D110Y	p.D110Y	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		4	628	+	all_lung(29;0.00963)		110			Cadherin 1.		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37	c.328G>T		.	.	.	.	.	.	.	.	.	.	.	21.8	4.204817	0.79127	.	.	ENSG00000124215	ENST00000244047;ENST00000348616	T;T	0.66460	-0.21;-0.21	4.91	4.91	0.64330	.	0.297686	0.35525	N	0.003154	T	0.79753	0.4500	M	0.76328	2.33	0.47214	D	0.999358	D	0.52996	0.957	P	0.59889	0.865	T	0.82752	-0.0302	10	0.87932	D	0	.	17.2517	0.87044	0.0:0.0:1.0:0.0	.	110	Q8IXH8-4	.	Y	110	ENSP00000244047:D110Y;ENSP00000339390:D110Y	ENSP00000244047:D110Y	D	+	1	0	CDH26	57980508	1.000000	0.71417	0.920000	0.36463	0.888000	0.51559	2.132000	0.42083	2.437000	0.82529	0.650000	0.86243	GAT		0.383	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		9	38	1	0	1.12685e-05	1	1.23167e-05	9	38					T	58547113	G	T	58547113	3	4	63	1	0	0	0	0	1	0	0	0	3110	942	33	4	342	4	CDH26	20	58547113	Missense_Mutation	SNP	G	TCGA-DE-A4MB-01A-11D-A257-08	22896028	58547113	4478407	29	1466											
DCAF8L2	347442	broad.mit.edu	37	chrX	27766084	27766084	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accggccagcttcaaaagttGtggtaacaagagaaaatgat	10	7	1	2			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chrX:27766084G>T	ENST00000451261.2	+	5	1471	c.1072G>T	c.(1072-1074)Gtg>Ttg	p.V358L		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	358										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						TTCAAAAGTTGTGGTAACAAG	0.448																																						ENST00000451261.2																			0				central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						c.(1072-1074)Gtg>Ttg		DDB1 and CUL4 associated factor 8-like 2							110	76	86					X																	27766084		692	1591	2283	SO:0001583	missense	347442							g.chrX:27766084G>T		CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"WD repeat domain containing"	31811	protein-coding gene	gene with protein product			"WD repeat domain 42C"	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.1072G>T	X.37:g.27766084G>T	ENSP00000462745:p.Val358Leu						p.V358L	NM_001136533.1	NP_001130005.1					5	1471	+								B2RXH9|J3KT06	Missense_Mutation	SNP	ENST00000451261.2	37	c.1072G>T	CCDS59162.1																																																																																				0.448	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	XM_293354		5	28	1	0	0.000602214	1	0.000602214	5	28					T	27766084	G	T	27766084	3	4	63	1	0	0	0	0	1	0	0	0	4278	1377	48	4	1074	4	DCAF8L2	23	27766084	Missense_Mutation	SNP	G	TCGA-DE-A4MB-01A-11D-A257-08		27766084	127504476	30	1467											
FAM47C	442444	broad.mit.edu	37	chrX	37028585	37028585	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgagactggagtgtcccGtctccacccagagcctccca	9	17	1	2			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chrX:37028585G>A	ENST00000358047.3	+	1	2154	c.2102G>A	c.(2101-2103)cGt>cAt	p.R701H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	701										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGTGTCCCGTCTCCACCCA	0.647																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(2101-2103)cGt>cAt		family with sequence similarity 47, member C							50	49	49					X																	37028585		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37028585G>A	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2102G>A	X.37:g.37028585G>A	ENSP00000367913:p.Arg701His						p.R701H	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	2154	+			701					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.2102G>A	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	0.173	-1.069496	0.01918	.	.	ENSG00000198173	ENST00000358047	T	0.12879	2.64	1.03	-1.87	0.07737	.	.	.	.	.	T	0.04137	0.0115	N	0.01352	-0.895	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.39313	-0.9620	9	0.39692	T	0.17	.	6.6045	0.22718	0.4044:0.0:0.5956:0.0	.	701	Q5HY64	FA47C_HUMAN	H	701	ENSP00000367913:R701H	ENSP00000367913:R701H	R	+	2	0	FAM47C	36938506	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	-0.468000	0.06656	-1.790000	0.01263	-1.767000	0.00664	CGT		0.647	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		4	135	0	0	0	1	0	4	135					A	37028585	G	A	37028585	3	1	63	1	0	0	0	0	1	0	0	0	5571	1145	40	1	2104	1	FAM47C	23	37028585	Missense_Mutation	SNP	G	TCGA-DE-A4MB-01A-11D-A257-08	9262501	37028585	118241975	31	1468											
FGF13	2258	broad.mit.edu	37	chrX	137717796	137717796	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacactgattctttgaatttGcactcaggtgtgaaaagttc	8	7	2	3			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chrX:137717796G>A	ENST00000315930.6	-	4	1084	c.423C>T	c.(421-423)tgC>tgT	p.C141C	FGF13_ENST00000305414.4_Silent_p.C88C|FGF13_ENST00000370603.3_Silent_p.C151C|FGF13_ENST00000441825.2_Silent_p.C122C|FGF13_ENST00000541469.1_Silent_p.C95C	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	141	Mediates interaction with sodium channels.				cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					CTTTGAATTTGCACTCAGGTG	0.368																																						ENST00000315930.6																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24						c.(421-423)tgC>tgT		fibroblast growth factor 13							62	54	57					X																	137717796		2203	4300	6503	SO:0001819	synonymous_variant	2258				cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	g.chrX:137717796G>A	BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"fibroblast growth factor homologous factor 2"	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000315930.6:c.423C>T	X.37:g.137717796G>A						FGF13_ENST00000370603.3_Silent_p.C151C|FGF13_ENST00000541469.1_Silent_p.C95C|FGF13_ENST00000441825.2_Silent_p.C122C|FGF13_ENST00000305414.4_Silent_p.C88C	p.C141C	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN			4	1084	-	Acute lymphoblastic leukemia(192;0.000127)		141					B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Silent	SNP	ENST00000315930.6	37	c.423C>T	CCDS14665.1																																																																																				0.368	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058534.2	NM_004114		12	35	0	0	0	1	0	12	35					A	137717796	G	A	137717796	2	1	63	1	0	0	0	0	0	0	0	1	5842	1311	46	2		2	FGF13	23	137717796	Silent	SNP	G	TCGA-DE-A4MB-01A-11D-A257-08	100689211	137717796	17552764	32	1469											
PVRL4	81607	broad.mit.edu	37	chr1	161043038	161043038	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cacagagcagctactgttgtCcttgagactatcagggtggc	12	10	1	2			TCGA-DE-A4MC-01A-11D-A257-08	TCGA-DE-A4MC-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b417a45f-2656-43a8-beb9-f2f43ea78299	70f3eec2-4f31-4d65-9fba-10516f958af2	g.chr1:161043038C>A	ENST00000368012.3	-	8	1587	c.1285G>T	c.(1285-1287)Gac>Tac	p.D429Y	PVRL4_ENST00000453926.2_Intron|PVRL4_ENST00000486694.1_Intron	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	429					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CTACTGTTGTCCTTGAGACTA	0.657																																					NSCLC(76;1160 1387 14476 16172 29359)	ENST00000368012.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20						c.(1285-1287)Gac>Tac		poliovirus receptor-related 4							82	78	80					1																	161043038		2203	4300	6503	SO:0001583	missense	81607				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		g.chr1:161043038C>A	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.1285G>T	1.37:g.161043038C>A	ENSP00000356991:p.Asp429Tyr					PVRL4_ENST00000486694.1_Intron|PVRL4_ENST00000453926.2_Intron	p.D429Y	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		8	1587	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		429					B4DQW3|Q96K15	Missense_Mutation	SNP	ENST00000368012.3	37	c.1285G>T	CCDS1216.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671636	0.67928	.	.	ENSG00000143217	ENST00000368012	T	0.41065	1.01	4.16	4.16	0.48862	.	0.000000	0.48767	D	0.000169	T	0.36908	0.0984	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.38802	-0.9644	10	0.62326	D	0.03	.	11.8352	0.52319	0.0:1.0:0.0:0.0	.	429	Q96NY8	PVRL4_HUMAN	Y	429	ENSP00000356991:D429Y	ENSP00000356991:D429Y	D	-	1	0	PVRL4	159309662	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.296000	0.59055	2.140000	0.66376	0.655000	0.94253	GAC		0.657	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916		13	68	1	0	9.05144e-12	1	9.74771e-12	13	68					A	161043038	C	A	161043038	3	1	64	1	0	0	0	0	1	0	0	0	12842	855	30	4	255	4	PVRL4	1	161043038	Missense_Mutation	SNP	C	TCGA-DE-A4MC-01A-11D-A257-08		161043038	88207583	1	1470											
TTN	7273	broad.mit.edu	37	chr2	179610827	179610827	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattttaagagtgtgacttcCcttctcctcgctaatcacgt	6	11	2	2			TCGA-DE-A4MC-01A-11D-A257-08	TCGA-DE-A4MC-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b417a45f-2656-43a8-beb9-f2f43ea78299	70f3eec2-4f31-4d65-9fba-10516f958af2	g.chr2:179610827C>T	ENST00000591111.1	-	46	10585				TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.G5434R|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin						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)			GTGTGACTTCCCTTCTCCTCG	0.408																																						ENST00000360870.5																			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.(16300-16302)Gga>Aga		titin							126	129	128					2																	179610827		2203	4300	6503	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179610827C>T	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.10361-4179G>A	2.37:g.179610827C>T						TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	p.G5434R	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	16522	-			8941			Ig-like 35.		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.16300G>A		.	.	.	.	.	.	.	.	.	.	C	20.9	4.063515	0.76187	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.68181	-0.31	5.88	5.88	0.94601	.	.	.	.	.	D	0.85208	0.5644	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.86484	0.1793	9	0.72032	D	0.01	.	20.2422	0.98381	0.0:1.0:0.0:0.0	.	5434	Q8WZ42-6	.	R	5434;715	ENSP00000354117:G5434R	ENSP00000304714:G715R	G	-	1	0	TTN	179319072	1.000000	0.71417	0.447000	0.26932	0.941000	0.58515	4.957000	0.63652	2.782000	0.95742	0.655000	0.94253	GGA		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		38	76	0	0	0	1	0	38	76					T	179610827	C	T	179610827	1	4	64	0	1	0	0	0	0	0	0	0	16732	632	22	2		2	TTN	2	179610827	Intron	SNP	C	TCGA-DE-A4MC-01A-11D-A257-08		179610827	63588546	2	1471											
DNAH1	25981	broad.mit.edu	37	chr3	52404789	52404789	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgattacaggctggaggacgCgggcatcagtggcaccaacg	15	11	1	0			TCGA-DE-A4MC-01A-11D-A257-08	TCGA-DE-A4MC-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b417a45f-2656-43a8-beb9-f2f43ea78299	70f3eec2-4f31-4d65-9fba-10516f958af2	g.chr3:52404789C>T	ENST00000420323.2	+	41	6734	c.6473C>T	c.(6472-6474)gCg>gTg	p.A2158V		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2158					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGGAGGACGCGGGCATCAGT	0.612																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(6472-6474)gCg>gTg		dynein, axonemal, heavy chain 1							33	41	38					3																	52404789		2083	4206	6289	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52404789C>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.6473C>T	3.37:g.52404789C>T	ENSP00000401514:p.Ala2158Val						p.A2158V	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	41	6734	+			2158					B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.6473C>T	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542821	0.45280	.	.	ENSG00000114841	ENST00000420323	T	0.24350	1.86	5.47	2.64	0.31445	.	0.708385	0.11826	N	0.525707	T	0.28764	0.0713	L	0.49350	1.555	0.09310	N	1	B	0.20459	0.045	B	0.12156	0.007	T	0.22347	-1.0219	10	0.33141	T	0.24	.	19.1773	0.93607	0.0:0.6763:0.3237:0.0	.	2158	C9JXH6	.	V	2158	ENSP00000401514:A2158V	ENSP00000401514:A2158V	A	+	2	0	DNAH1	52379829	0.057000	0.20700	0.002000	0.10522	0.275000	0.26752	0.586000	0.23894	0.263000	0.21812	0.491000	0.48974	GCG		0.612	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		3	15	0	0	0	1	0	3	15					T	52404789	C	T	52404789	3	4	64	1	0	0	0	0	1	0	0	0	4597	768	27	1	6631	1	DNAH1	3	52404789	Missense_Mutation	SNP	C	TCGA-DE-A4MC-01A-11D-A257-08		52404789	145617641	3	1472											
EEFSEC	60678	broad.mit.edu	37	chr3	128077088	128077088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgactacagtgtgatcggccGctccctgttcaaaaaggaaa	10	10	1	2	rs376730230		TCGA-DE-A4MC-01A-11D-A257-08	TCGA-DE-A4MC-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b417a45f-2656-43a8-beb9-f2f43ea78299	70f3eec2-4f31-4d65-9fba-10516f958af2	g.chr3:128077088G>A	ENST00000254730.6	+	6	1526	c.1472G>A	c.(1471-1473)cGc>cAc	p.R491H	EEFSEC_ENST00000483457.1_Intron	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	491					selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						GTGATCGGCCGCTCCCTGTTC	0.567																																						ENST00000254730.6																			0				NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						c.(1471-1473)cGc>cAc		eukaryotic elongation factor, selenocysteine-tRNA-specific		G	HIS/ARG	0,4406		0,0,2203	145	109	121		1472	5.2	1.0	3		121	1,8599	1.2+/-3.3	0,1,4299	no	missense	EEFSEC	NM_021937.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	491/597	128077088	1,13005	2203	4300	6503	SO:0001583	missense	60678					cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:128077088G>A		CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"elongation factor for selenoprotein translation"	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.1472G>A	3.37:g.128077088G>A	ENSP00000254730:p.Arg491His					EEFSEC_ENST00000483457.1_Intron	p.R491H	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN			6	1526	+			491					Q96HZ6	Missense_Mutation	SNP	ENST00000254730.6	37	c.1472G>A	CCDS33849.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988141	0.93106	0.0	1.16E-4	ENSG00000132394	ENST00000254730	T	0.47177	0.85	5.18	5.18	0.71444	.	0.099399	0.64402	D	0.000003	T	0.65270	0.2675	L	0.60845	1.875	0.80722	D	1	D	0.71674	0.998	D	0.64595	0.927	T	0.68202	-0.5471	10	0.72032	D	0.01	-6.4515	18.7006	0.91619	0.0:0.0:1.0:0.0	.	491	P57772	SELB_HUMAN	H	491	ENSP00000254730:R491H	ENSP00000254730:R491H	R	+	2	0	EEFSEC	129559778	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.862000	0.99564	2.421000	0.82119	0.591000	0.81541	CGC		0.567	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	NM_021937		4	47	0	0	0	1	0	4	47					A	128077088	G	A	128077088	3	1	64	1	0	0	0	0	1	0	0	0	4931	1087	38	1	1494	1	EEFSEC	3	128077088	Missense_Mutation	SNP	G	TCGA-DE-A4MC-01A-11D-A257-08	75672299	128077088	69945342	4	1473											
RASA1	5921	broad.mit.edu	37	chr5	86645086	86645086	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gataatactcctggcgattaTtcactttatttccggaccaa	6	10	1	0			TCGA-DE-A4MC-01A-11D-A257-08	TCGA-DE-A4MC-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b417a45f-2656-43a8-beb9-f2f43ea78299	70f3eec2-4f31-4d65-9fba-10516f958af2	g.chr5:86645086T>C	ENST00000274376.6	+	8	1722	c.1158T>C	c.(1156-1158)taT>taC	p.Y386Y	RASA1_ENST00000506290.1_Silent_p.Y220Y|RASA1_ENST00000456692.2_Silent_p.Y209Y|RASA1_ENST00000512763.1_Silent_p.Y219Y	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	386	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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)		CTGGCGATTATTCACTTTATT	0.358																																						ENST00000456692.2																			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.(625-627)taT>taC		RAS p21 protein activator (GTPase activating protein) 1							91	96	94					5																	86645086		2203	4298	6501	SO:0001819	synonymous_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.chr5:86645086T>C		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.1158T>C	5.37:g.86645086T>C						RASA1_ENST00000512763.1_Silent_p.Y219Y|RASA1_ENST00000506290.1_Silent_p.Y220Y|RASA1_ENST00000274376.6_Silent_p.Y386Y	p.Y209Y	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	8	742	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	386			SH2 1.		B2R6W3|Q9UDI1	Silent	SNP	ENST00000274376.6	37	c.627T>C	CCDS34200.1																																																																																				0.358	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		4	70	0	0	0	1	0	4	70					C	86645086	T	C	86645086	2	2	64	1	0	0	0	0	0	0	0	1	13060	1500	52	3		3	RASA1	5	86645086	Silent	SNP	T	TCGA-DE-A4MC-01A-11D-A257-08		86645086	94270174	5	1474											
HECW1	23072	broad.mit.edu	37	chr7	43483867	43483867	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgagtcagcccaaattcagGacagccccatgaacaacctg	8	14	2	2			TCGA-DE-A4MC-01A-11D-A257-08	TCGA-DE-A4MC-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b417a45f-2656-43a8-beb9-f2f43ea78299	70f3eec2-4f31-4d65-9fba-10516f958af2	g.chr7:43483867G>A	ENST00000395891.2	+	11	1701	c.1096G>A	c.(1096-1098)Gac>Aac	p.D366N	HECW1_ENST00000453890.1_Missense_Mutation_p.D366N	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	366					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCAAATTCAGGACAGCCCCAT	0.532																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(1096-1098)Gac>Aac		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							63	70	68					7																	43483867		2113	4230	6343	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43483867G>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1096G>A	7.37:g.43483867G>A	ENSP00000379228:p.Asp366Asn					HECW1_ENST00000453890.1_Missense_Mutation_p.D366N	p.D366N	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			11	1701	+			366					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.1096G>A	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	14.60	2.584180	0.46110	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.33216	1.42;1.44	5.7	1.82	0.25136	.	1.282710	0.04463	N	0.374700	T	0.23649	0.0572	L	0.34521	1.04	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24870	-1.0148	10	0.16896	T	0.51	.	7.4578	0.27276	0.1277:0.0:0.6337:0.2386	.	366;366	B4DH42;Q76N89	.;HECW1_HUMAN	N	366	ENSP00000379228:D366N;ENSP00000407774:D366N	ENSP00000265522:D366N	D	+	1	0	HECW1	43450392	1.000000	0.71417	0.039000	0.18376	0.657000	0.38888	4.057000	0.57455	0.054000	0.16065	0.655000	0.94253	GAC		0.532	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		22	46	0	0	0	1	0	22	46					A	43483867	G	A	43483867	3	1	64	1	0	0	0	0	1	0	0	0	7042	1174	41	2	1130	2	HECW1	7	43483867	Missense_Mutation	SNP	G	TCGA-DE-A4MC-01A-11D-A257-08		43483867	115654796	6	1475											
DOCK4	9732	broad.mit.edu	37	chr7	111395599	111395599	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttttccacttcaaaccagCgagagatgccaggcaaactc	8	13	1	1			TCGA-DE-A4MC-01A-11D-A257-08	TCGA-DE-A4MC-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b417a45f-2656-43a8-beb9-f2f43ea78299	70f3eec2-4f31-4d65-9fba-10516f958af2	g.chr7:111395599C>T	ENST00000437633.1	-	41	4617	c.4361G>A	c.(4360-4362)cGc>cAc	p.R1454H	DOCK4_ENST00000428084.1_Missense_Mutation_p.R1463H|DOCK4_ENST00000494651.2_Missense_Mutation_p.R337H	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1454	DHR-2.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TTCAAACCAGCGAGAGATGCC	0.448																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(4387-4389)cGc>cAc		dedicator of cytokinesis 4							133	127	129					7																	111395599		1981	4162	6143	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111395599C>T		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.4361G>A	7.37:g.111395599C>T	ENSP00000404179:p.Arg1454His					DOCK4_ENST00000437633.1_Missense_Mutation_p.R1454H|DOCK4_ENST00000494651.2_Missense_Mutation_p.R337H	p.R1463H			Q8N1I0	DOCK4_HUMAN			42	4660	-		Acute lymphoblastic leukemia(1;0.0441)	1454			DHR-2.		O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.4388G>A	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.306953|5.306953	0.95629|0.95629	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000423057;ENST00000445943|ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288	.|T;T;T	.|0.19806	.|2.12;2.12;2.12	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	.|0.048713	.|0.85682	.|D	.|0.000000	T|T	0.53997|0.53997	0.1831|0.1831	M|M	0.87682|0.87682	2.9|2.9	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;0.996;0.995;1.0;1.0	.|D;P;D;D;D	.|0.80764	.|0.993;0.814;0.929;0.994;0.993	T|T	0.62025|0.62025	-0.6941|-0.6941	5|10	.|0.87932	.|D	.|0	.|.	18.7549|18.7549	0.91828|0.91828	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|361;337;1499;1454;1463	.|B7Z2K9;F5GXW1;Q149N5;Q8N1I0;Q8N1I0-2	.|.;.;.;DOCK4_HUMAN;.	T|H	915;1487|1442;1463;337;1454;1451	.|ENSP00000410746:R1463H;ENSP00000440944:R337H;ENSP00000404179:R1454H	.|ENSP00000345432:R1451H	A|R	-|-	1|2	0|0	DOCK4|DOCK4	111182835|111182835	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	7.651000|7.651000	0.83577|0.83577	2.656000|2.656000	0.90262|0.90262	0.650000|0.650000	0.86243|0.86243	GCT|CGC		0.448	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		15	34	0	0	0	1	0	15	34					T	111395599	C	T	111395599	3	4	64	1	0	0	0	0	1	0	0	0	4689	768	27	1	1587	1	DOCK4	7	111395599	Missense_Mutation	SNP	C	TCGA-DE-A4MC-01A-11D-A257-08	67911732	111395599	47743064	7	1476											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DE-A4MC-01A-11D-A257-08	TCGA-DE-A4MC-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b417a45f-2656-43a8-beb9-f2f43ea78299	70f3eec2-4f31-4d65-9fba-10516f958af2	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		24	45	0	0	0	1	0	24	45					T	140453136	A	T	140453136	3	4	64	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DE-A4MC-01A-11D-A257-08	29057537	140453136	18685527	8	1477											
SMARCA2	6595	broad.mit.edu	37	chr9	2039767	2039767	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggcttgcagcaacaacaGcagcagcaacagcagcagca	10	14	0	0			TCGA-DE-A4MC-01A-11D-A257-08	TCGA-DE-A4MC-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b417a45f-2656-43a8-beb9-f2f43ea78299	70f3eec2-4f31-4d65-9fba-10516f958af2	g.chr9:2039767G>A	ENST00000382203.1	+	4	866	c.657G>A	c.(655-657)caG>caA	p.Q219Q	RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000382194.1_Silent_p.Q219Q|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000357248.2_Silent_p.Q219Q|SMARCA2_ENST00000349721.2_Silent_p.Q219Q			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	219	Poly-Gln.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		agcaacaacagcagcagcaac	0.607																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(655-657)caG>caA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							14	16	15					9																	2039767		2201	4296	6497	SO:0001819	synonymous_variant	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2039767G>A	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.657G>A	9.37:g.2039767G>A						SMARCA2_ENST00000357248.2_Silent_p.Q219Q|SMARCA2_ENST00000349721.2_Silent_p.Q219Q|SMARCA2_ENST00000382194.1_Silent_p.Q219Q|SMARCA2_ENST00000491574.1_3'UTR	p.Q219Q			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	4	866	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	219			Poly-Gln.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	c.657G>A	CCDS34977.1																																																																																				0.607	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		3	20	0	0	0	1	0	3	20					A	2039767	G	A	2039767	2	1	64	1	0	0	0	0	0	0	0	1	14769	962	34	2		2	SMARCA2	9	2039767	Silent	SNP	G	TCGA-DE-A4MC-01A-11D-A257-08		2039767	139173664	9	1478											
SLC44A1	23446	broad.mit.edu	37	chr9	108097922	108097922	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtagcactgtgtgtagcagcGtgtccaaggcaagaactgaa	13	8	0	2	rs529943766		TCGA-DE-A4MC-01A-11D-A257-08	TCGA-DE-A4MC-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b417a45f-2656-43a8-beb9-f2f43ea78299	70f3eec2-4f31-4d65-9fba-10516f958af2	g.chr9:108097922G>T	ENST00000374720.3	+	4	595	c.348G>T	c.(346-348)gcG>gcT	p.A116A	SLC44A1_ENST00000374724.1_Silent_p.A116A|SLC44A1_ENST00000374723.1_Silent_p.A116A	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	116					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	GTGTAGCAGCGTGTCCAAGGC	0.413																																						ENST00000374720.3																			0				breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(346-348)gcG>gcT		solute carrier family 44 (choline transporter), member 1	Choline(DB00122)						158	142	148					9																	108097922		2203	4300	6503	SO:0001819	synonymous_variant	23446					integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	g.chr9:108097922G>T	AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"CD molecules", "Solute carriers"	18798	protein-coding gene	gene with protein product		606105	"CDW92 antigen"	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.348G>T	9.37:g.108097922G>T						SLC44A1_ENST00000374723.1_Silent_p.A116A|SLC44A1_ENST00000374724.1_Silent_p.A116A	p.A116A	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN			4	595	+			116					A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Silent	SNP	ENST00000374720.3	37	c.348G>T	CCDS6763.1																																																																																				0.413	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	NM_080546		38	71	1	0	4.14481e-20	1	4.64219e-20	38	71					T	108097922	G	T	108097922	2	4	64	1	0	0	0	0	0	0	0	1	14635	1132	40	4		4	SLC44A1	9	108097922	Silent	SNP	G	TCGA-DE-A4MC-01A-11D-A257-08	106058155	108097922	33115509	10	1479											
ATM	472	broad.mit.edu	37	chr11	108236054	108236054	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtttttgtccttagtgAtattgaccagagtttcaaca	8	6	1	3			TCGA-DE-A4MC-01A-11D-A257-08	TCGA-DE-A4MC-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b417a45f-2656-43a8-beb9-f2f43ea78299	70f3eec2-4f31-4d65-9fba-10516f958af2	g.chr11:108236054A>G	ENST00000452508.2	+	64	9179	c.8990A>G	c.(8989-8991)gAt>gGt	p.D2997G	ATM_ENST00000278616.4_Missense_Mutation_p.D2997G|C11orf65_ENST00000526725.1_Intron|ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000525729.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2997					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GTCCTTAGTGATATTGACCAG	0.393			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(8989-8991)gAt>gGt	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							111	108	109					11																	108236054		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108236054A>G	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8990A>G	11.37:g.108236054A>G	ENSP00000388058:p.Asp2997Gly	TSP Lung(14;0.12)				C11orf65_ENST00000526725.1_Intron|ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.D2997G	p.D2997G	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	63	9375	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2997					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.8990A>G	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	10.96	1.497510	0.26861	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.01538	4.79;4.79	5.22	2.89	0.33648	Phosphatidylinositol 3-/4-kinase, catalytic (2);	0.506686	0.22660	N	0.057201	T	0.01976	0.0062	L	0.51422	1.61	0.80722	D	1	B	0.24132	0.098	B	0.21546	0.035	T	0.52830	-0.8523	10	0.26408	T	0.33	.	5.8907	0.18911	0.713:0.0:0.287:0.0	.	2997	Q13315	ATM_HUMAN	G	2997	ENSP00000278616:D2997G;ENSP00000388058:D2997G	ENSP00000278616:D2997G	D	+	2	0	ATM	107741264	1.000000	0.71417	0.813000	0.32504	0.249000	0.25844	4.226000	0.58606	1.026000	0.39733	0.529000	0.55759	GAT		0.393	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		33	53	0	0	0	1	0	33	53					G	108236054	A	G	108236054	3	3	64	1	0	0	0	0	1	0	0	0	1109	333	12	3	9236	3	ATM	11	108236054	Missense_Mutation	SNP	A	TCGA-DE-A4MC-01A-11D-A257-08		108236054	26770462	11	1480											
TMEM5	10329	broad.mit.edu	37	chr12	64174850	64174850	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttgggaaggagatgaaaAaaatgagcaacaacacagat	10	6	0	4			TCGA-DE-A4MC-01A-11D-A257-08	TCGA-DE-A4MC-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b417a45f-2656-43a8-beb9-f2f43ea78299	70f3eec2-4f31-4d65-9fba-10516f958af2	g.chr12:64174850A>C	ENST00000261234.6	+	2	379	c.221A>C	c.(220-222)aAa>aCa	p.K74T	TMEM5_ENST00000537982.1_3'UTR|TMEM5_ENST00000537373.1_5'UTR|RP11-415I12.3_ENST00000509615.2_RNA	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	74						integral component of plasma membrane (GO:0005887)				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		GGAGATGAAAAAAATGAGCAA	0.363																																						ENST00000261234.6																			0				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15						c.(220-222)aAa>aCa		transmembrane protein 5							88	95	93					12																	64174850		2203	4299	6502	SO:0001583	missense	10329					integral to plasma membrane		g.chr12:64174850A>C	AB015633	CCDS8966.1, CCDS61179.1	12q14.1	2013-05-07			ENSG00000118600	ENSG00000118600			13530	protein-coding gene	gene with protein product		605862				10072769, 23217329	Standard	NM_014254		Approved	HP10481	uc001srq.2	Q9Y2B1	OTTHUMG00000168730	ENST00000261234.6:c.221A>C	12.37:g.64174850A>C	ENSP00000261234:p.Lys74Thr					TMEM5_ENST00000537982.1_3'UTR|TMEM5_ENST00000537373.1_5'UTR|RP11-415I12.3_ENST00000509615.2_RNA	p.K74T	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)	2	379	+		Myeloproliferative disorder(1001;0.0255)	74					A8K017|Q6PKD6	Missense_Mutation	SNP	ENST00000261234.6	37	c.221A>C	CCDS8966.1	.	.	.	.	.	.	.	.	.	.	A	16.87	3.243354	0.58995	.	.	ENSG00000118600	ENST00000261234	T	0.29397	1.57	4.34	3.17	0.36434	.	0.228590	0.44902	D	0.000410	T	0.31231	0.0790	L	0.55481	1.735	0.80722	D	1	P	0.44429	0.835	P	0.46917	0.531	T	0.03259	-1.1055	9	.	.	.	-29.6012	6.0552	0.19807	0.8637:0.0:0.1363:0.0	.	74	Q9Y2B1	TMEM5_HUMAN	T	74	ENSP00000261234:K74T	.	K	+	2	0	TMEM5	62461117	0.996000	0.38824	0.996000	0.52242	0.978000	0.69477	1.444000	0.35068	0.756000	0.33013	0.402000	0.26972	AAA		0.363	TMEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400821.1	NM_014254		29	34	0	0	0	1	0	29	34					C	64174850	A	C	64174850	3	2	64	1	0	0	0	0	1	0	0	0	16171	14	1	5	227	5	TMEM5	12	64174850	Missense_Mutation	SNP	A	TCGA-DE-A4MC-01A-11D-A257-08		64174850	69677045	12	1481											
CHST5	23563	broad.mit.edu	37	chr16	75563592	75563592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccgccgcctcccgggagcGcagcacggcccgcgggtcgc	16	20	0	0			TCGA-DE-A4MC-01A-11D-A257-08	TCGA-DE-A4MC-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b417a45f-2656-43a8-beb9-f2f43ea78299	70f3eec2-4f31-4d65-9fba-10516f958af2	g.chr16:75563592G>A	ENST00000336257.3	-	3	2085	c.691C>T	c.(691-693)Cgc>Tgc	p.R231C	CHST5_ENST00000541075.1_Missense_Mutation_p.R237C|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	231					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)|protein sulfation (GO:0006477)|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)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						TCCCGGGAGCGCAGCACGGCC	0.706																																						ENST00000336257.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						c.(691-693)Cgc>Tgc		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5							26	32	30					16																	75563592		2189	4283	6472	SO:0001583	missense	23563				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75563592G>A	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"Sulfotransferases, membrane-bound"	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.691C>T	16.37:g.75563592G>A	ENSP00000338783:p.Arg231Cys					CHST5_ENST00000541075.1_Missense_Mutation_p.R237C|RP11-77K12.7_ENST00000460606.1_3'UTR	p.R231C	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN			3	2085	-			231					B2RV23|Q7LCN3|Q9UBY3	Missense_Mutation	SNP	ENST00000336257.3	37	c.691C>T	CCDS10919.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.742949	0.30865	.	.	ENSG00000135702	ENST00000336257;ENST00000541075	D;D	0.81996	-1.56;-1.56	2.65	1.52	0.23074	Sulfotransferase domain (1);	0.272858	0.28114	N	0.016546	D	0.87034	0.6077	M	0.72894	2.215	0.44247	D	0.997093	D;D	0.89917	1.0;1.0	D;D	0.76071	0.977;0.987	D	0.84308	0.0509	10	0.37606	T	0.19	.	7.0565	0.25102	0.0:0.0:0.5067:0.4932	.	237;231	Q9GZS9-2;Q9GZS9	.;CHST5_HUMAN	C	231;237	ENSP00000338783:R231C;ENSP00000441220:R237C	ENSP00000338783:R231C	R	-	1	0	CHST5	74121093	0.987000	0.35691	1.000000	0.80357	0.183000	0.23260	1.546000	0.36179	1.471000	0.48121	0.313000	0.20887	CGC		0.706	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126		41	68	0	0	0	1	0	41	68					A	75563592	G	A	75563592	3	1	64	1	0	0	0	0	1	0	0	0	3407	1087	38	1	548	1	CHST5	16	75563592	Missense_Mutation	SNP	G	TCGA-DE-A4MC-01A-11D-A257-08		75563592	14791161	13	1482											
KRT20	54474	broad.mit.edu	37	chr17	39034494	39034494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtattcgttgttctggcGttccatgttactccgaatct	9	9	2	0			TCGA-DE-A4MC-01A-11D-A257-08	TCGA-DE-A4MC-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b417a45f-2656-43a8-beb9-f2f43ea78299	70f3eec2-4f31-4d65-9fba-10516f958af2	g.chr17:39034494G>A	ENST00000167588.3	-	6	1083	c.1042C>T	c.(1042-1044)Cgc>Tgc	p.R348C		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	348	Coil 2.|Rod.				apoptotic process (GO:0006915)|cellular response to stress (GO:0033554)|intermediate filament organization (GO:0045109)|regulation of protein secretion (GO:0050708)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)	p.R348C(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				TTGTTCTGGCGTTCCATGTTA	0.498																																						ENST00000167588.3																			2	Substitution - Missense(2)	p.R348C(2)	lung(1)|endometrium(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14						c.(1042-1044)Cgc>Tgc		keratin 20							257	212	227					17																	39034494		2203	4300	6503	SO:0001583	missense	54474				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39034494G>A	BC031559	CCDS11379.1	17q21.2	2013-01-16			ENSG00000171431	ENSG00000171431		"-", "Intermediate filaments type I, keratins (acidic)"	20412	protein-coding gene	gene with protein product		608218				8359595, 12515621, 16831889	Standard	NM_019010		Approved	CK20, K20, MGC35423	uc002hvl.3	P35900	OTTHUMG00000133366	ENST00000167588.3:c.1042C>T	17.37:g.39034494G>A	ENSP00000167588:p.Arg348Cys						p.R348C	NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN			6	1083	-		Breast(137;0.000301)|Ovarian(249;0.15)	348			Coil 2.|Rod.		B2R6W7	Missense_Mutation	SNP	ENST00000167588.3	37	c.1042C>T	CCDS11379.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.403549	0.62288	.	.	ENSG00000171431	ENST00000167588	D	0.90197	-2.63	5.0	2.87	0.33458	Filament (1);	1.078380	0.07107	N	0.841408	D	0.93423	0.7902	L	0.58510	1.815	0.39044	D	0.960199	D	0.89917	1.0	D	0.65773	0.938	D	0.88110	0.2825	10	0.56958	D	0.05	.	9.1452	0.36928	0.0771:0.0:0.777:0.1459	.	348	P35900	K1C20_HUMAN	C	348	ENSP00000167588:R348C	ENSP00000167588:R348C	R	-	1	0	KRT20	36288020	0.360000	0.24964	0.863000	0.33907	0.037000	0.13140	0.882000	0.28186	1.100000	0.41517	0.591000	0.81541	CGC		0.498	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257202.2			39	63	0	0	0	1	0	39	63					A	39034494	G	A	39034494	3	1	64	1	0	0	0	0	1	0	0	0	8458	1145	40	1	244	1	KRT20	17	39034494	Missense_Mutation	SNP	G	TCGA-DE-A4MC-01A-11D-A257-08		39034494	42160716	14	1483											
RBBP8	5932	broad.mit.edu	37	chr18	20577633	20577633	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagtggacatggactgtacAttggttagtgaaaccgttct	11	7	1	1			TCGA-DE-A4MC-01A-11D-A257-08	TCGA-DE-A4MC-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b417a45f-2656-43a8-beb9-f2f43ea78299	70f3eec2-4f31-4d65-9fba-10516f958af2	g.chr18:20577633A>G	ENST00000399722.2	+	14	2430	c.2079A>G	c.(2077-2079)acA>acG	p.T693T	RBBP8_ENST00000399725.2_Silent_p.T693T|RBBP8_ENST00000327155.5_Silent_p.T693T|RBBP8_ENST00000360790.5_Silent_p.T693T	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	693					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TGGACTGTACATTGGTTAGTG	0.299								Homologous recombination																														ENST00000399722.2																			0				central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24						c.(2077-2079)acA>acG	Homologous recombination	retinoblastoma binding protein 8							74	73	73					18																	20577633		2203	4300	6503	SO:0001819	synonymous_variant	5932				cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr18:20577633A>G	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"CTBP-interacting protein"	604124	"retinoblastoma-binding protein 8", "Seckel syndrome 2"	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.2079A>G	18.37:g.20577633A>G						RBBP8_ENST00000327155.5_Silent_p.T693T|RBBP8_ENST00000360790.5_Silent_p.T693T|RBBP8_ENST00000399725.2_Silent_p.T693T	p.T693T	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		14	2430	+	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		693					A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Silent	SNP	ENST00000399722.2	37	c.2079A>G	CCDS11875.1																																																																																				0.299	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291		10	11	0	0	0	1	0	10	11					G	20577633	A	G	20577633	2	3	64	1	0	0	0	0	0	0	0	1	13105	204	8	3		3	RBBP8	18	20577633	Silent	SNP	A	TCGA-DE-A4MC-01A-11D-A257-08		20577633	57499615	15	1484											
SUSD2	56241	broad.mit.edu	37	chr22	24580155	24580155	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcgagttggtgaacgagaCgcgttggcaatactacggca	15	8	0	2	rs530121968		TCGA-DE-A4MC-01A-11D-A257-08	TCGA-DE-A4MC-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b417a45f-2656-43a8-beb9-f2f43ea78299	70f3eec2-4f31-4d65-9fba-10516f958af2	g.chr22:24580155C>T	ENST00000358321.3	+	4	752	c.491C>T	c.(490-492)aCg>aTg	p.T164M		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	164					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GTGAACGAGACGCGTTGGCAA	0.602													c|||	1	0.000199681	8e-04	0	5008	,	,		20358	0		0	False		,,,				2504	0					ENST00000358321.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(490-492)aCg>aTg		sushi domain containing 2							165	120	136					22																	24580155		2203	4300	6503	SO:0001583	missense	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24580155C>T	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.491C>T	22.37:g.24580155C>T	ENSP00000351075:p.Thr164Met						p.T164M	NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN			4	752	+			164					Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	c.491C>T	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.521426	0.27211	.	.	ENSG00000099994	ENST00000358321	T	0.09817	2.94	3.66	3.66	0.41972	.	0.060574	0.64402	D	0.000004	T	0.11879	0.0289	M	0.74258	2.255	0.42968	D	0.994425	P	0.35011	0.48	B	0.25759	0.063	T	0.03993	-1.0986	10	0.66056	D	0.02	-29.6919	8.6892	0.34256	0.2273:0.7727:0.0:0.0	.	164	Q9UGT4	SUSD2_HUMAN	M	164	ENSP00000351075:T164M	ENSP00000351075:T164M	T	+	2	0	SUSD2	22910155	0.999000	0.42202	0.993000	0.49108	0.109000	0.19521	4.110000	0.57831	2.067000	0.61834	0.450000	0.29827	ACG		0.602	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		19	42	0	0	0	1	0	19	42					T	24580155	C	T	24580155	3	4	64	1	0	0	0	0	1	0	0	0	15405	536	19	1	505	1	SUSD2	22	24580155	Missense_Mutation	SNP	C	TCGA-DE-A4MC-01A-11D-A257-08		24580155	26724411	16	1485											
YY2	404281	broad.mit.edu	37	chrX	21874958	21874958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacgagcacttccagatgaCcctggcctctctgtcggcct	10	15	1	3			TCGA-DE-A4MC-01A-11D-A257-08	TCGA-DE-A4MC-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b417a45f-2656-43a8-beb9-f2f43ea78299	70f3eec2-4f31-4d65-9fba-10516f958af2	g.chrX:21874958C>T	ENST00000429584.2	+	1	854	c.356C>T	c.(355-357)aCc>aTc	p.T119I	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	119					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(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						TTCCAGATGACCCTGGCCTCT	0.582																																						ENST00000429584.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						c.(355-357)aCc>aTc		YY2 transcription factor							64	53	57					X																	21874958		2203	4300	6503	SO:0001583	missense	404281				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding	g.chrX:21874958C>T	AK091850	CCDS14202.1	Xp22.2-p22.1	2011-02-11			ENSG00000230797	ENSG00000230797		"Zinc fingers, C2H2-type"	31684	protein-coding gene	gene with protein product	"transcription factor yin yang 2"	300570				14702039	Standard	NM_206923		Approved	ZNF631	uc011mjp.2	O15391	OTTHUMG00000021236	ENST00000429584.2:c.356C>T	X.37:g.21874958C>T	ENSP00000389381:p.Thr119Ile					MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Intron	p.T119I	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN			1	854	+			119					B2RP10|Q6Q1S4	Missense_Mutation	SNP	ENST00000429584.2	37	c.356C>T	CCDS14202.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.205572	0.58234	.	.	ENSG00000230797	ENST00000429584	T	0.11604	2.76	3.99	3.11	0.35812	.	0.276343	0.33144	U	0.005236	T	0.20129	0.0484	L	0.54323	1.7	0.32949	D	0.519511	D	0.59767	0.986	P	0.56916	0.809	T	0.18871	-1.0323	10	0.52906	T	0.07	.	10.5474	0.45068	0.0:0.7875:0.2125:0.0	.	119	O15391	TYY2_HUMAN	I	119	ENSP00000389381:T119I	ENSP00000389381:T119I	T	+	2	0	YY2	21784879	0.922000	0.31269	0.002000	0.10522	0.035000	0.12851	1.882000	0.39648	1.024000	0.39682	0.600000	0.82982	ACC		0.582	YY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056025.1	NM_206923		31	38	0	0	0	1	0	31	38					T	21874958	C	T	21874958	3	4	64	1	0	0	0	0	1	0	0	0	17506	507	18	2	358	2	YY2	23	21874958	Missense_Mutation	SNP	C	TCGA-DE-A4MC-01A-11D-A257-08		21874958	133395602	17	1486											
SASH3	54440	broad.mit.edu	37	chrX	128914084	128914084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggaggaccatgctgcgccGcaagccctccaatgccagtg	13	14	0	0			TCGA-DE-A4MC-01A-11D-A257-08	TCGA-DE-A4MC-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b417a45f-2656-43a8-beb9-f2f43ea78299	70f3eec2-4f31-4d65-9fba-10516f958af2	g.chrX:128914084G>A	ENST00000356892.3	+	1	125	c.11G>A	c.(10-12)cGc>cAc	p.R4H	SASH3_ENST00000476532.1_3'UTR	NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	4					homeostasis of number of cells within a tissue (GO:0048873)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tumor necrosis factor production (GO:0032760)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						ATGCTGCGCCGCAAGCCCTCC	0.577																																						ENST00000356892.3																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						c.(10-12)cGc>cAc		SAM and SH3 domain containing 3							90	79	83					X																	128914084		2203	4300	6503	SO:0001583	missense	54440							g.chrX:128914084G>A	BC051881	CCDS14614.1	Xq26	2013-01-10	2008-02-18	2008-02-18	ENSG00000122122	ENSG00000122122		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	15975	protein-coding gene	gene with protein product		300441	"chromosome X open reading frame 9"	CXorf9		11470164	Standard	NM_018990		Approved	SLY, 753P9, SH3D6C, HACS2	uc004euu.3	O75995	OTTHUMG00000022372	ENST00000356892.3:c.11G>A	X.37:g.128914084G>A	ENSP00000349359:p.Arg4His					SASH3_ENST00000476532.1_3'UTR	p.R4H	NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN			1	125	+			4					A6NCH1|A8K7K8|Q5JZ38	Missense_Mutation	SNP	ENST00000356892.3	37	c.11G>A	CCDS14614.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.672773	0.67928	.	.	ENSG00000122122	ENST00000443760;ENST00000356892	T	0.56941	0.43	5.31	5.31	0.75309	.	0.115953	0.64402	D	0.000012	T	0.67869	0.2939	L	0.56199	1.76	0.58432	D	0.999999	D	0.76494	0.999	D	0.73380	0.98	T	0.71087	-0.4694	10	0.87932	D	0	-10.4509	15.2979	0.73925	0.0:0.0:1.0:0.0	.	4	O75995	SASH3_HUMAN	H	4	ENSP00000349359:R4H	ENSP00000349359:R4H	R	+	2	0	SASH3	128741765	1.000000	0.71417	0.995000	0.50966	0.956000	0.61745	7.660000	0.83776	2.203000	0.70933	0.513000	0.50165	CGC		0.577	SASH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058208.1	NM_018990		22	23	0	0	0	1	0	22	23					A	128914084	G	A	128914084	3	1	64	1	0	0	0	0	1	0	0	0	13849	1087	38	1	13	1	SASH3	23	128914084	Missense_Mutation	SNP	G	TCGA-DE-A4MC-01A-11D-A257-08	107039126	128914084	26356476	18	1487											
NBPF15	284565	broad.mit.edu	37	chr1	148594434	148594434	+	Missense_Mutation	SNP	G	G	A													tggaagtggaagagcctgaaGtcttacaggactcactggat							TCGA-DE-A4MD-01A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128eeeac-803e-489e-bd6d-fa9972824ded	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr1:148594434G>A	ENST00000369187.3	+	19	2296	c.1807G>A	c.(1807-1809)Gtc>Atc	p.V603I	NBPF15_ENST00000442702.2_Missense_Mutation_p.V603I	NM_173638.3	NP_775909.2	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	603	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					AGAGCCTGAAGTCTTACAGGA	0.458																																						ENST00000442702.2																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12						c.(1807-1809)Gtc>Atc		neuroblastoma breakpoint family, member 15																																				SO:0001583	missense	284565					cytoplasm		g.chr1:148594434G>A	BC023087	CCDS72852.1	1q21.1	2014-01-16			ENSG00000243452	ENSG00000266338		"neuroblastoma breakpoint family"	28791	protein-coding gene	gene with protein product		610414, 614005	"neuroblastoma breakpoint family, member 16"	NBPF16		16079250	Standard	NM_173638		Approved	MGC8902	uc001esc.2	Q8N660	OTTHUMG00000013634	ENST00000369187.3:c.1807G>A	1.37:g.148594434G>A	ENSP00000358188:p.Val603Ile					NBPF15_ENST00000369187.3_Missense_Mutation_p.V603I	p.V603I	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN			21	2874	+	all_hematologic(923;0.032)		603			NBPF 6.		Q3BBV9|Q8IX77	Missense_Mutation	SNP	ENST00000369187.3	37	c.1807G>A	CCDS932.1	.	.	.	.	.	.	.	.	.	.	.	10.11	1.259285	0.23051	.	.	ENSG00000243452	ENST00000442702;ENST00000369187	T;T	0.15372	2.43;2.43	0.502	0.502	0.16932	DUF1220 (2);	.	.	.	.	T	0.27098	0.0664	M	0.84683	2.71	0.09310	N	1	D	0.57257	0.979	D	0.75484	0.986	T	0.02539	-1.1144	8	0.56958	D	0.05	.	.	.	.	.	603	Q8N660	NBPFF_HUMAN	I	603	ENSP00000416864:V603I;ENSP00000358188:V603I	ENSP00000358188:V603I	V	+	1	0	NBPF15	146861058	0.951000	0.32395	0.009000	0.14445	0.006000	0.05464	0.894000	0.28350	0.557000	0.29117	0.377000	0.23210	GTC		0.458	NBPF15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038609.3	NM_173638		7	207	0	0	0	1	0	7	207					A	148594434	G	A	148594434	3	1	65	1	0	0	0	0	1	0	0	0	10195	1029	36	2	1865	2	NBPF15	1	148594434	Missense_Mutation	SNP	G	TCGA-DE-A4MD-01A-11D-A257-08		148594434	100656187	1	1488	7	2									
NBPF15	284565	broad.mit.edu	37	chr1	148594439	148594439	+	Silent	SNP	A	A	G													gtggaagagcctgaagtcttAcaggactcactggatagatg							TCGA-DE-A4MD-01A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128eeeac-803e-489e-bd6d-fa9972824ded	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr1:148594439A>G	ENST00000369187.3	+	19	2301	c.1812A>G	c.(1810-1812)ttA>ttG	p.L604L	NBPF15_ENST00000442702.2_Silent_p.L604L	NM_173638.3	NP_775909.2	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	604	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					CTGAAGTCTTACAGGACTCAC	0.463																																						ENST00000442702.2																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12						c.(1810-1812)ttA>ttG		neuroblastoma breakpoint family, member 15																																				SO:0001819	synonymous_variant	284565					cytoplasm		g.chr1:148594439A>G	BC023087	CCDS72852.1	1q21.1	2014-01-16			ENSG00000243452	ENSG00000266338		"neuroblastoma breakpoint family"	28791	protein-coding gene	gene with protein product		610414, 614005	"neuroblastoma breakpoint family, member 16"	NBPF16		16079250	Standard	NM_173638		Approved	MGC8902	uc001esc.2	Q8N660	OTTHUMG00000013634	ENST00000369187.3:c.1812A>G	1.37:g.148594439A>G						NBPF15_ENST00000369187.3_Silent_p.L604L	p.L604L	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN			21	2879	+	all_hematologic(923;0.032)		604			NBPF 6.		Q3BBV9|Q8IX77	Silent	SNP	ENST00000369187.3	37	c.1812A>G	CCDS932.1																																																																																				0.463	NBPF15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038609.3	NM_173638		7	217	0	0	0	1	0	7	217					G	148594439	A	G	148594439	2	3	65	1	0	0	0	0	0	0	0	1	10195	388	14	3		3	NBPF15	1	148594439	Silent	SNP	A	TCGA-DE-A4MD-01A-11D-A257-08	5	148594439	100656182	2	1489	7	2									
KCNJ9	3765	broad.mit.edu	37	chr1	160054053	160054053	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctggctcttcttcggcgccaTctggtggctgatcgcctacg	12	14	3	1			TCGA-DE-A4MD-01A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128eeeac-803e-489e-bd6d-fa9972824ded	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr1:160054053T>A	ENST00000368088.3	+	2	475	c.233T>A	c.(232-234)aTc>aAc	p.I78N		NM_004983.2	NP_004974.2	Q92806	KCNJ9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	78					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTCGGCGCCATCTGGTGGCTG	0.662																																						ENST00000368088.3																			0				biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16						c.(232-234)aTc>aAc		potassium inwardly-rectifying channel, subfamily J, member 9							49	39	43					1																	160054053		2203	4300	6503	SO:0001583	missense	3765				synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr1:160054053T>A	U52152	CCDS1194.1	1q23.2	2011-07-05			ENSG00000162728	ENSG00000162728		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6270	protein-coding gene	gene with protein product		600932				8575783, 16382105	Standard	NM_004983		Approved	Kir3.3, GIRK3	uc001fuy.1	Q92806	OTTHUMG00000024072	ENST00000368088.3:c.233T>A	1.37:g.160054053T>A	ENSP00000357067:p.Ile78Asn						p.I78N	NM_004983.2	NP_004974.2	Q92806	IRK9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	475	+	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		78					Q5JW75	Missense_Mutation	SNP	ENST00000368088.3	37	c.233T>A	CCDS1194.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.461522	0.84317	.	.	ENSG00000162728	ENST00000368088	D	0.94862	-3.54	4.71	4.71	0.59529	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.96024	0.8705	M	0.91300	3.195	0.58432	D	0.999998	P	0.48162	0.906	P	0.52031	0.688	D	0.96677	0.9501	10	0.87932	D	0	.	13.17	0.59593	0.0:0.0:0.0:1.0	.	78	Q92806	IRK9_HUMAN	N	78	ENSP00000357067:I78N	ENSP00000357067:I78N	I	+	2	0	KCNJ9	158320677	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.895000	0.87343	1.747000	0.51819	0.352000	0.21897	ATC		0.662	KCNJ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060628.1	NM_004983		33	14	0	0	0	1	0	33	14					A	160054053	T	A	160054053	3	1	65	1	0	0	0	0	1	0	0	0	8057	1435	50	5	235	5	KCNJ9	1	160054053	Missense_Mutation	SNP	T	TCGA-DE-A4MD-01A-11D-A257-08	11459614	160054053	89196568	3	1490											
PCNXL2	80003	broad.mit.edu	37	chr1	233296140	233296140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaatgtgttacaaaccccaCggctccagccaaggcaaaca	8	13	0	0	rs370457665		TCGA-DE-A4MD-01A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128eeeac-803e-489e-bd6d-fa9972824ded	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr1:233296140C>T	ENST00000258229.9	-	19	3640	c.3406G>A	c.(3406-3408)Gtg>Atg	p.V1136M	PCNXL2_ENST00000488780.2_Missense_Mutation_p.V269M|PCNXL2_ENST00000520463.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1136						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)				ACAAACCCCACGGCTCCAGCC	0.498																																						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.(3406-3408)Gtg>Atg		pecanex-like 2 (Drosophila)		C	MET/VAL	0,3918		0,0,1959	78	76	76		3406	4.8	0.9	1		76	1,8317		0,1,4158	no	missense	PCNXL2	NM_014801.3	21	0,1,6117	TT,TC,CC		0.012,0.0,0.0082	probably-damaging	1136/2138	233296140	1,12235	1959	4159	6118	SO:0001583	missense	80003					integral to membrane		g.chr1:233296140C>T	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.3406G>A	1.37:g.233296140C>T	ENSP00000258229:p.Val1136Met					PCNXL2_ENST00000488780.2_Missense_Mutation_p.V269M|PCNXL2_ENST00000520463.1_5'UTR	p.V1136M	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			19	3640	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1136					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.3406G>A	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200120	0.79015	0.0	1.2E-4	ENSG00000135749	ENST00000258229;ENST00000488780	T	0.11930	2.73	4.81	4.81	0.61882	.	.	.	.	.	T	0.39809	0.1092	M	0.81802	2.56	0.80722	D	1	D	0.76494	0.999	D	0.64410	0.925	T	0.40720	-0.9548	9	0.87932	D	0	.	18.0806	0.89440	0.0:1.0:0.0:0.0	.	1136	A6NKB5	PCX2_HUMAN	M	1136;269	ENSP00000258229:V1136M	ENSP00000258229:V1136M	V	-	1	0	PCNXL2	231362763	1.000000	0.71417	0.943000	0.38184	0.505000	0.33919	7.286000	0.78671	2.466000	0.83321	0.650000	0.86243	GTG		0.498	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		24	39	0	0	0	1	0	24	39					T	233296140	C	T	233296140	3	4	65	1	0	0	0	0	1	0	0	0	11592	536	19	1	3071	1	PCNXL2	1	233296140	Missense_Mutation	SNP	C	TCGA-DE-A4MD-01A-11D-A257-08	73242087	233296140	15954481	4	1491											
RYR2	6262	broad.mit.edu	37	chr1	237753135	237753135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagtggctcaagtgggtaGgatgaactttggaaaggatg	17	3	1	1			TCGA-DE-A4MD-01A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128eeeac-803e-489e-bd6d-fa9972824ded	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr1:237753135G>A	ENST00000366574.2	+	30	3958	c.3641G>A	c.(3640-3642)aGg>aAg	p.R1214K	RYR2_ENST00000360064.6_Missense_Mutation_p.R1212K|RYR2_ENST00000542537.1_Missense_Mutation_p.R1198K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1214	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAAGTGGGTAGGATGAACTTT	0.388																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(3640-3642)aGg>aAg		ryanodine receptor 2 (cardiac)							98	94	95					1																	237753135		1903	4127	6030	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237753135G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3641G>A	1.37:g.237753135G>A	ENSP00000355533:p.Arg1214Lys					RYR2_ENST00000542537.1_Missense_Mutation_p.R1198K|RYR2_ENST00000360064.6_Missense_Mutation_p.R1212K	p.R1214K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		30	3958	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1214			4 X approximate repeats.|B30.2/SPRY 2.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.3641G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	g	22.5	4.302826	0.81136	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.69685	-0.42;-0.42;-0.42	5.49	5.49	0.81192	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000002	T	0.70168	0.3193	M	0.74467	2.265	0.80722	D	1	B	0.20164	0.042	B	0.25506	0.061	T	0.66296	-0.5959	10	0.35671	T	0.21	.	19.3668	0.94466	0.0:0.0:1.0:0.0	.	1214	Q92736	RYR2_HUMAN	K	1214;1212;1198	ENSP00000355533:R1214K;ENSP00000353174:R1212K;ENSP00000443798:R1198K	ENSP00000353174:R1212K	R	+	2	0	RYR2	235819758	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.804000	0.99143	2.564000	0.86499	0.650000	0.86243	AGG		0.388	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		29	57	0	0	0	1	0	29	57					A	237753135	G	A	237753135	3	1	65	1	0	0	0	0	1	0	0	0	13769	1000	35	2	3759	2	RYR2	1	237753135	Missense_Mutation	SNP	G	TCGA-DE-A4MD-01A-11D-A257-08	4456995	237753135	11497486	5	1492											
LRPPRC	10128	broad.mit.edu	37	chr2	44145498	44145498	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattttcttcttggattttaTtccagactgcatcagctctt	5	10	4	1			TCGA-DE-A4MD-01A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128eeeac-803e-489e-bd6d-fa9972824ded	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr2:44145498T>C	ENST00000260665.7	-	28	2993	c.2936A>G	c.(2935-2937)aAt>aGt	p.N979S		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	979					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)				TTGGATTTTATTCCAGACTGC	0.338																																						ENST00000260665.7																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41						c.(2935-2937)aAt>aGt		leucine-rich pentatricopeptide repeat containing							76	81	79					2																	44145498		2203	4300	6503	SO:0001583	missense	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.chr2:44145498T>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.2936A>G	2.37:g.44145498T>C	ENSP00000260665:p.Asn979Ser						p.N979S	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN			28	2993	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	979					A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	37	c.2936A>G	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	T	14.47	2.544096	0.45280	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.12255	2.7	6.17	2.23	0.28157	Tetratricopeptide-like helical (1);	0.224693	0.43919	D	0.000520	T	0.12603	0.0306	L	0.60455	1.87	0.80722	D	1	B;B	0.27117	0.168;0.024	B;B	0.29785	0.107;0.009	T	0.06844	-1.0804	10	0.10111	T	0.7	-60.0587	9.4284	0.38595	0.0:0.0745:0.3823:0.5433	.	879;979	F5H4J6;P42704	.;LPPRC_HUMAN	S	879;979	ENSP00000260665:N979S	ENSP00000260665:N979S	N	-	2	0	LRPPRC	43999002	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.904000	0.48719	0.546000	0.28920	0.533000	0.62120	AAT		0.338	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		25	31	0	0	0	1	0	25	31					C	44145498	T	C	44145498	3	2	65	1	0	0	0	0	1	0	0	0	8965	1493	52	3	1292	3	LRPPRC	2	44145498	Missense_Mutation	SNP	T	TCGA-DE-A4MD-01A-11D-A257-08		44145498	199053875	6	1493											
ANKRD36	375248	broad.mit.edu	37	chr2	97867956	97867956	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgtcttctcagaaaccaCcagccttgaaggtaatgaaa	8	10	2	3			TCGA-DE-A4MD-01A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128eeeac-803e-489e-bd6d-fa9972824ded	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr2:97867956C>T	ENST00000461153.2	+	47	3119	c.2875C>T	c.(2875-2877)Cca>Tca	p.P959S	ANKRD36_ENST00000420699.2_Missense_Mutation_p.P959S			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	959										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TCAGAAACCACCAGCCTTGAA	0.333																																						ENST00000420699.2																			0				endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(2875-2877)Cca>Tca		ankyrin repeat domain 36							117	119	119					2																	97867956		692	1591	2283	SO:0001583	missense	375248							g.chr2:97867956C>T	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2875C>T	2.37:g.97867956C>T	ENSP00000419530:p.Pro959Ser					ANKRD36_ENST00000461153.2_Missense_Mutation_p.P959S	p.P959S	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			47	3119	+			959					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.2875C>T	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	8.325	0.825091	0.16678	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.77877	-1.13;-1.13	0.673	0.673	0.17941	.	.	.	.	.	T	0.64638	0.2616	L	0.42245	1.32	0.09310	N	1	P	0.51933	0.949	B	0.39904	0.313	T	0.53837	-0.8382	8	0.25106	T	0.35	.	.	.	.	.	959	A6QL64	AN36A_HUMAN	S	959;959;321	ENSP00000419530:P959S;ENSP00000391950:P959S	ENSP00000391950:P959S	P	+	1	0	ANKRD36	97231683	0.000000	0.05858	0.003000	0.11579	0.012000	0.07955	-0.377000	0.07456	0.640000	0.30582	0.175000	0.17021	CCA		0.333	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			4	53	0	0	0	1	0	4	53					T	97867956	C	T	97867956	3	4	65	1	0	0	0	0	1	0	0	0	665	507	18	2	3061	2	ANKRD36	2	97867956	Missense_Mutation	SNP	C	TCGA-DE-A4MD-01A-11D-A257-08	53722458	97867956	145331417	7	1494											
ABCB6	10058	broad.mit.edu	37	chr2	220078577	220078577	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcagtgacaaagtatgCgcaaagcagggagccggcga	14	10	1	1	rs532805022		TCGA-DE-A4MD-01A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128eeeac-803e-489e-bd6d-fa9972824ded	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr2:220078577C>T	ENST00000265316.3	-	9	1865	c.1549G>A	c.(1549-1551)Gca>Aca	p.A517T	ABCB6_ENST00000439002.2_Missense_Mutation_p.A471T	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	517	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACAAAGTATGCGCAAAGCAGG	0.562													c|||	1	0.000199681	0	0	5008	,	,		18603	0.001		0	False		,,,				2504	0					ENST00000265316.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34						c.(1549-1551)Gca>Aca		ATP-binding cassette, sub-family B (MDR/TAP), member 6							125	148	140					2																	220078577		2203	4300	6503	SO:0001583	missense	10058				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity	g.chr2:220078577C>T	AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"ATP binding cassette transporters / subfamily B"	47	protein-coding gene	gene with protein product	"ATP-binding cassette half-transporter"	605452	"ATP-binding cassette, sub-family B (MDR/TAP), member 6"			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.1549G>A	2.37:g.220078577C>T	ENSP00000265316:p.Ala517Thr					ABCB6_ENST00000439002.2_Missense_Mutation_p.A471T	p.A517T	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	9	1865	-		Renal(207;0.0474)	517			ABC transmembrane type-1.		O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Missense_Mutation	SNP	ENST00000265316.3	37	c.1549G>A	CCDS2436.1	.	.	.	.	.	.	.	.	.	.	C	36	5.767470	0.96914	.	.	ENSG00000115657	ENST00000265316;ENST00000439002	D;D	0.94537	-3.45;-2.47	5.02	5.02	0.67125	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96531	0.8868	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.973;0.984	D	0.96286	0.9210	10	0.45353	T	0.12	-10.3134	17.9575	0.89074	0.0:1.0:0.0:0.0	.	471;517	Q9NP58-4;Q9NP58	.;ABCB6_HUMAN	T	517;471	ENSP00000265316:A517T;ENSP00000394333:A471T	ENSP00000265316:A517T	A	-	1	0	ABCB6	219786821	1.000000	0.71417	0.992000	0.48379	0.965000	0.64279	7.678000	0.84035	2.331000	0.79229	0.591000	0.81541	GCA		0.562	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	NM_005689		5	397	0	0	0	1	0	5	397					T	220078577	C	T	220078577	3	4	65	1	0	0	0	0	1	0	0	0	45	768	27	1	1023	1	ABCB6	2	220078577	Missense_Mutation	SNP	C	TCGA-DE-A4MD-01A-11D-A257-08	122210621	220078577	23120796	8	1495											
UGT1A3	54659	broad.mit.edu	37	chr2	234638622	234638622	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggcatcaactgtgccaacAggaagccactatctcaggtc	11	12	2	0	rs201645683	byFrequency	TCGA-DE-A4MD-01A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128eeeac-803e-489e-bd6d-fa9972824ded	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr2:234638622A>G	ENST00000482026.1	+	1	869	c.850A>G	c.(850-852)Agg>Ggg	p.R284G	UGT1A10_ENST00000344644.5_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000609767.1_Missense_Mutation_p.R284G|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000373450.4_Intron			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	284					cellular glucuronidation (GO:0052695)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|UDP-glycosyltransferase activity (GO:0008194)			breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	Atorvastatin(DB01076)|Candesartan(DB00796)|Cyproheptadine(DB00434)|Eltrombopag(DB06210)|Etodolac(DB00749)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Irbesartan(DB01029)|Lamotrigine(DB00555)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Pitavastatin(DB08860)|Simvastatin(DB00641)|Valproic Acid(DB00313)	CTGTGCCAACAGGAAGCCACT	0.438													A|||	2	0.000399361	0	0	5008	,	,		20202	0.002		0	False		,,,				2504	0					ENST00000482026.1																			0				breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46						c.(850-852)Agg>Ggg									82	87	86					2																	234638622		2202	4300	6502	SO:0001583	missense	0							g.chr2:234638622A>G	M84127	CCDS2509.1	2q37	2010-03-05	2005-07-20		ENSG00000243135	ENSG00000243135		"UDP glucuronosyltransferases"	12535	other	complex locus constituent		606428	"UDP glycosyltransferase 1 family, polypeptide A3"			9295054, 1339448, 11434514	Standard	NM_019093		Approved	UGT1C		P35503	OTTHUMG00000059118	ENST00000482026.1:c.850A>G	2.37:g.234638622A>G	ENSP00000418532:p.Arg284Gly					UGT1A6_ENST00000480628.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron	p.R284G	NM_019093.2	NP_061966.1				Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	1	869	+		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)						B8K287	Missense_Mutation	SNP	ENST00000482026.1	37	c.850A>G	CCDS2509.1	.	.	.	.	.	.	.	.	.	.	a	5.773	0.327051	0.10900	.	.	ENSG00000243135	ENST00000482026	T	0.60171	0.21	4.0	1.33	0.21861	.	.	.	.	.	T	0.35128	0.0921	N	0.12422	0.21	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.20306	-1.0279	9	0.41790	T	0.15	.	6.4869	0.22093	0.7587:0.1543:0.087:0.0	.	284;284	Q5DT01;P35503	.;UD13_HUMAN	G	284	ENSP00000418532:R284G	ENSP00000418532:R284G	R	+	1	2	UGT1A3	234303361	0.003000	0.15002	0.975000	0.42487	0.949000	0.60115	2.046000	0.41260	0.378000	0.24764	0.373000	0.22412	AGG		0.438	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130983.1	NM_019093		7	156	0	0	0	1	0	7	156					G	234638622	A	G	234638622	3	3	65	1	0	0	0	0	1	0	0	0	16943	179	7	3	852	3	UGT1A3	2	234638622	Missense_Mutation	SNP	A	TCGA-DE-A4MD-01A-11D-A257-08	14560045	234638622	8560751	9	1496											
ZNF619	285267	broad.mit.edu	37	chr3	40529513	40529513	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgccatcctctctcctctGcctccccaacatacctgctc	4	21	2	0			TCGA-DE-A4MD-01A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128eeeac-803e-489e-bd6d-fa9972824ded	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr3:40529513G>A	ENST00000314686.5	+	6	1869	c.1464G>A	c.(1462-1464)ctG>ctA	p.L488L	ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000429348.2_Silent_p.L504L|ZNF619_ENST00000432264.2_Silent_p.L504L|ZNF619_ENST00000522736.1_Silent_p.L495L|ZNF619_ENST00000521353.1_Silent_p.L544L|ZNF619_ENST00000447116.2_Silent_p.L544L|ZNF619_ENST00000456778.1_Silent_p.L460L			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	488					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)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TCTCTCCTCTGCCTCCCCAAC	0.547																																						ENST00000447116.2																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1630-1632)ctG>ctA		zinc finger protein 619							158	107	124					3																	40529513		2203	4300	6503	SO:0001819	synonymous_variant	285267				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr3:40529513G>A	AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"Zinc fingers, C2H2-type", "-"	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.1464G>A	3.37:g.40529513G>A						ZNF619_ENST00000432264.2_Silent_p.L504L|ZNF619_ENST00000429348.2_Silent_p.L504L|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000314686.5_Silent_p.L488L|ZNF619_ENST00000456778.1_Silent_p.L460L|ZNF619_ENST00000522736.1_Silent_p.L495L|ZNF619_ENST00000521353.1_Silent_p.L544L	p.L544L	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	6	1939	+			544					B4E271|C9JRN5|D4PHA2|E9PCD9	Silent	SNP	ENST00000314686.5	37	c.1632G>A																																																																																					0.547	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	NM_173656		34	41	0	0	0	1	0	34	41					A	40529513	G	A	40529513	2	1	65	1	0	0	0	0	0	0	0	1	18040	1306	46	2		2	ZNF619	3	40529513	Silent	SNP	G	TCGA-DE-A4MD-01A-11D-A257-08		40529513	157492917	10	1497											
BSN	8927	broad.mit.edu	37	chr3	49689757	49689757	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggctaccgatggcagtgggaCcctgcagggtgggctccgtc	17	12	0	0			TCGA-DE-A4MD-01A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128eeeac-803e-489e-bd6d-fa9972824ded	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr3:49689757C>G	ENST00000296452.4	+	5	2882	c.2768C>G	c.(2767-2769)aCc>aGc	p.T923S		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	923					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGCAGTGGGACCCTGCAGGGT	0.632																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(2767-2769)aCc>aGc		bassoon presynaptic cytomatrix protein							40	41	41					3																	49689757		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49689757C>G	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.2768C>G	3.37:g.49689757C>G	ENSP00000296452:p.Thr923Ser						p.T923S	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	2882	+			923					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.2768C>G	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	7.542	0.660892	0.14645	.	.	ENSG00000164061	ENST00000296452	T	0.16597	2.33	4.81	3.93	0.45458	.	0.448654	0.23612	N	0.046334	T	0.09291	0.0229	N	0.11927	0.2	0.18873	N	0.999982	B	0.02656	0.0	B	0.01281	0.0	T	0.31336	-0.9947	10	0.13853	T	0.58	.	12.484	0.55861	0.0:0.917:0.0:0.083	.	923	Q9UPA5	BSN_HUMAN	S	923	ENSP00000296452:T923S	ENSP00000296452:T923S	T	+	2	0	BSN	49664761	0.609000	0.26975	0.466000	0.27168	0.684000	0.39900	3.039000	0.49791	1.004000	0.39156	0.561000	0.74099	ACC		0.632	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		23	31	0	0	0	1	0	23	31					G	49689757	C	G	49689757	3	3	65	1	0	0	0	0	1	0	0	0	1530	507	18	4	2786	4	BSN	3	49689757	Missense_Mutation	SNP	C	TCGA-DE-A4MD-01A-11D-A257-08	9160244	49689757	148332673	11	1498											
CRIPAK	285464	broad.mit.edu	37	chr4	1389084	1389085	+	Frame_Shift_Del	DEL	CA	CA	-													atgtggagtgcccgcctgctCacacgtgcccatgtggagtg							TCGA-DE-A4MD-01A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128eeeac-803e-489e-bd6d-fa9972824ded	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr4:1389084_1389085delCA	ENST00000324803.4	+	1	3745_3746	c.785_786delCA	c.(784-786)tcafs	p.S262fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	262					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCCGCCTGCTCACACGTGCCCA	0.693																																						ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(784-786)tfs		cysteine-rich PAK1 inhibitor																																				SO:0001589	frameshift_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1389084_1389085delCA	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.785_786delCA	4.37:g.1389086_1389087delCA	ENSP00000323978:p.Ser262fs						p.S262fs	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3745_3746	+			262					Q8NB03	Frame_Shift_Del	DEL	ENST00000324803.4	37	c.785_786delCA	CCDS3349.1																																																																																				0.693	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		9	472						9	472	---	---	---	---	-	1389085	CA	-	1389084	7	5	65	1	0	1	0	1	0	0	0	0	3877	838	29	0	787	0	CRIPAK	4	1389084	Frame_Shift_Del	DEL	CA	TCGA-DE-A4MD-01A-11D-A257-08		1389084	189765192	12	1499											
TACR3	6870	broad.mit.edu	37	chr4	104640456	104640456	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcgtcggagaaagccaggTtcacaaggaagtagttggtg	16	6	1	1			TCGA-DE-A4MD-01A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128eeeac-803e-489e-bd6d-fa9972824ded	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr4:104640456T>C	ENST00000304883.2	-	1	517	c.377A>G	c.(376-378)aAc>aGc	p.N126S		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	126					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GAAAGCCAGGTTCACAAGGAA	0.547																																						ENST00000304883.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(376-378)aAc>aGc		tachykinin receptor 3							130	116	121					4																	104640456		2203	4300	6503	SO:0001583	missense	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104640456T>C	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"GPCR / Class A : Tachykinin receptors"	11528	protein-coding gene	gene with protein product	"neurokinin beta receptor"	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.377A>G	4.37:g.104640456T>C	ENSP00000303325:p.Asn126Ser						p.N126S	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	1	517	-		Hepatocellular(203;0.217)	126					Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	c.377A>G	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.454909	0.84209	.	.	ENSG00000169836	ENST00000304883	T	0.43688	0.94	4.95	4.95	0.65309	GPCR, rhodopsin-like superfamily (1);	0.231565	0.43416	N	0.000562	T	0.56470	0.1987	L	0.46947	1.48	0.58432	D	0.999999	D	0.76494	0.999	D	0.71414	0.973	T	0.60125	-0.7324	10	0.87932	D	0	.	13.8219	0.63325	0.0:0.0:0.0:1.0	.	126	P29371	NK3R_HUMAN	S	126	ENSP00000303325:N126S	ENSP00000303325:N126S	N	-	2	0	TACR3	104859905	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.666000	0.83877	1.843000	0.53566	0.383000	0.25322	AAC		0.547	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		23	40	0	0	0	1	0	23	40					C	104640456	T	C	104640456	3	2	65	1	0	0	0	0	1	0	0	0	15504	1725	60	3	1040	3	TACR3	4	104640456	Missense_Mutation	SNP	T	TCGA-DE-A4MD-01A-11D-A257-08	103251372	104640456	86513820	13	1500											
USP53	54532	broad.mit.edu	37	chr4	120169968	120169968	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagataacataaggcatgcTcttgcagaaagtttcaaaga	8	7	3	3			TCGA-DE-A4MD-01A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128eeeac-803e-489e-bd6d-fa9972824ded	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr4:120169968T>C	ENST00000274030.6	+	7	1482	c.303T>C	c.(301-303)gcT>gcC	p.A101A	USP53_ENST00000450251.1_Silent_p.A101A	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						TAAGGCATGCTCTTGCAGAAA	0.408																																						ENST00000450251.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						c.(301-303)gcT>gcC		ubiquitin specific peptidase 53							208	183	191					4																	120169968		1919	4135	6054	SO:0001819	synonymous_variant	54532				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr4:120169968T>C	BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"Ubiquitin-specific peptidases"	29255	protein-coding gene	gene with protein product			"ubiquitin specific protease 53"			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.303T>C	4.37:g.120169968T>C						USP53_ENST00000274030.6_Silent_p.A101A	p.A101A			Q70EK8	UBP53_HUMAN			3	847	+			101						Silent	SNP	ENST00000274030.6	37	c.303T>C	CCDS43265.1																																																																																				0.408	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597		57	57	0	0	0	1	0	57	57					C	120169968	T	C	120169968	2	2	65	1	0	0	0	0	0	0	0	1	17081	1538	54	3		3	USP53	4	120169968	Silent	SNP	T	TCGA-DE-A4MD-01A-11D-A257-08	15529512	120169968	70984308	14	1501											
PCDHB12	56124	broad.mit.edu	37	chr5	140589694	140589695	+	Frame_Shift_Del	DEL	AG	AG	-													aattactacactttggaaacAgagagaccgctggacagaga					rs371548754		TCGA-DE-A4MD-01A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128eeeac-803e-489e-bd6d-fa9972824ded	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr5:140589694_140589695delAG	ENST00000239450.2	+	1	1404_1405	c.1215_1216delAG	c.(1213-1218)acagagfs	p.E406fs	PCDHB12_ENST00000541609.1_Frame_Shift_Del_p.E69fs	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	406	Cadherin 4. {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)			CTTTGGAAACAGAGAGACCGCT	0.495																																						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.(1213-1218)acagfs																																						SO:0001589	frameshift_variant	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140589694_140589695delAG	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.1215_1216delAG	5.37:g.140589698_140589699delAG	ENSP00000239450:p.Glu406fs					PCDHB12_ENST00000541609.1_Frame_Shift_Del_p.TE68fs	p.TE405fs	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1404_1405	+			405			Cadherin 4.		B4DDU1	Frame_Shift_Del	DEL	ENST00000239450.2	37	c.1215_1216delAG	CCDS4254.1																																																																																				0.495	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		7	102						7	102	---	---	---	---	-	140589695	AG	-	140589694	7	5	65	1	0	1	0	1	0	0	0	0	11537	175	7	0	1217	0	PCDHB12	5	140589694	Frame_Shift_Del	DEL	AG	TCGA-DE-A4MD-01A-11D-A257-08		140589694	40325566	15	1502											
HUS1B	135458	broad.mit.edu	37	chr6	656774	656774	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaaggccccctgccgcacCtcgcaccacagcctggcctc	10	20	0	0			TCGA-DE-A4MD-01A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128eeeac-803e-489e-bd6d-fa9972824ded	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr6:656774C>T	ENST00000380907.2	-	1	189	c.171G>A	c.(169-171)gaG>gaA	p.E57E	EXOC2_ENST00000448181.3_Intron|EXOC2_ENST00000230449.4_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	57					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)	checkpoint clamp complex (GO:0030896)|nucleolus (GO:0005730)				endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		CCTGCCGCACCTCGCACCACA	0.692																																						ENST00000380907.2																			0				endometrium(3)|large_intestine(1)|lung(7)	11						c.(169-171)gaG>gaA		HUS1 checkpoint homolog b (S. pombe)							13	12	12					6																	656774		2189	4276	6465	SO:0001819	synonymous_variant	135458							g.chr6:656774C>T	AF508547	CCDS4470.1	6p25.3	2008-08-08	2001-11-28		ENSG00000188996	ENSG00000188996			16485	protein-coding gene	gene with protein product		609713	"HUS1 (S. pombe) checkpoint homolog b"			11944979	Standard	NM_148959		Approved		uc003mtg.3	Q8NHY5	OTTHUMG00000090059	ENST00000380907.2:c.171G>A	6.37:g.656774C>T						EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	p.E57E	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)	1	189	-	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	57					Q5T4Z2	Silent	SNP	ENST00000380907.2	37	c.171G>A	CCDS4470.1																																																																																				0.692	HUS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205617.2	NM_148959		9	5	0	0	0	1	0	9	5					T	656774	C	T	656774	2	4	65	1	0	0	0	0	0	0	0	1	7460	680	24	2		2	HUS1B	6	656774	Silent	SNP	C	TCGA-DE-A4MD-01A-11D-A257-08		656774	170458293	16	1503											
OR12D3	81797	broad.mit.edu	37	chr6	29342445	29342445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagagtcagaaagaaagctCccatggatatgctgcctgtg	12	8	1	3			TCGA-DE-A4MD-01A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128eeeac-803e-489e-bd6d-fa9972824ded	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr6:29342445C>T	ENST00000396806.3	-	1	623	c.620G>A	c.(619-621)gGa>gAa	p.G207E	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						AAAGAAAGCTCCCATGGATAT	0.448																																						ENST00000396806.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						c.(619-621)gGa>gAa		olfactory receptor, family 12, subfamily D, member 3							77	82	80					6																	29342445		1511	2709	4220	SO:0001583	missense	81797				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29342445C>T		CCDS4658.1	6p22.1	2013-09-24			ENSG00000112462	ENSG00000112462		"GPCR / Class A : Olfactory receptors"	13963	protein-coding gene	gene with protein product							Standard	NM_030959		Approved	hs6M1-27	uc003nme.3	Q9UGF7	OTTHUMG00000031051	ENST00000396806.3:c.620G>A	6.37:g.29342445C>T	ENSP00000380023:p.Gly207Glu					OR5V1_ENST00000377154.1_Intron	p.G207E	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN			1	623	-			207					A2BDZ1|Q5SQI8|Q6IF23	Missense_Mutation	SNP	ENST00000396806.3	37	c.620G>A	CCDS4658.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.314392	0.23908	.	.	ENSG00000112462	ENST00000377143;ENST00000396806	T	0.37752	1.18	4.19	0.931	0.19460	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.41396	0.1157	M	0.90425	3.115	0.09310	N	1	D	0.53151	0.958	P	0.58266	0.836	T	0.33059	-0.9883	9	0.30078	T	0.28	0.2237	9.0477	0.36356	0.5321:0.3493:0.1186:0.0	.	207	Q9UGF7	O12D3_HUMAN	E	207	ENSP00000380023:G207E	ENSP00000366348:G207E	G	-	2	0	OR12D3	29450424	0.000000	0.05858	0.000000	0.03702	0.252000	0.25951	-0.917000	0.04025	-0.055000	0.13244	0.205000	0.17691	GGA		0.448	OR12D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076056.3			41	45	0	0	0	1	0	41	45					T	29342445	C	T	29342445	3	4	65	1	0	0	0	0	1	0	0	0	10932	855	30	2	334	2	OR12D3	6	29342445	Missense_Mutation	SNP	C	TCGA-DE-A4MD-01A-11D-A257-08	28685671	29342445	141772622	17	1504											
CTTNBP2	83992	broad.mit.edu	37	chr7	117431414	117431414	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatctatggatggttttggTggcagctgaggggaggatga	17	3	1	2			TCGA-DE-A4MD-01A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128eeeac-803e-489e-bd6d-fa9972824ded	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr7:117431414T>G	ENST00000160373.3	-	4	1927	c.1836A>C	c.(1834-1836)ccA>ccC	p.P612P	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	612					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		ATGGTTTTGGTGGCAGCTGAG	0.552																																						ENST00000160373.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(1834-1836)ccA>ccC		cortactin binding protein 2							61	59	60					7																	117431414		2203	4300	6503	SO:0001819	synonymous_variant	83992							g.chr7:117431414T>G		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.1836A>C	7.37:g.117431414T>G							p.P612P	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	4	1927	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		612					O43389|Q7LG11|Q9C0A5	Silent	SNP	ENST00000160373.3	37	c.1836A>C	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	T	7.221	0.597386	0.13875	.	.	ENSG00000077063	ENST00000446636	.	.	.	5.74	4.52	0.55395	.	.	.	.	.	T	0.64271	0.2583	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62886	-0.6759	4	.	.	.	0.2861	12.8524	0.57864	0.0:0.0:0.1358:0.8642	.	.	.	.	P	141	.	.	T	-	1	0	CTTNBP2	117218650	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.758000	0.55220	2.317000	0.78254	0.460000	0.39030	ACC		0.552	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		22	19	0	0	0	1	0	22	19					G	117431414	T	G	117431414	2	3	65	1	0	0	0	0	0	0	0	1	4045	1683	59	5		5	CTTNBP2	7	117431414	Silent	SNP	T	TCGA-DE-A4MD-01A-11D-A257-08		117431414	41707249	18	1505											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DE-A4MD-01A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128eeeac-803e-489e-bd6d-fa9972824ded	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		32	54	0	0	0	1	0	32	54					T	140453136	A	T	140453136	3	4	65	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DE-A4MD-01A-11D-A257-08	23021722	140453136	18685527	19	1506											
ANGPT2	285	broad.mit.edu	37	chr8	6371296	6371296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtattttaagcacatagcGttgctgattagtcagttgcg	11	6	1	1			TCGA-DE-A4MD-01A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128eeeac-803e-489e-bd6d-fa9972824ded	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr8:6371296G>A	ENST00000325203.5	-	7	1576	c.1102C>T	c.(1102-1104)Cgc>Tgc	p.R368C	ANGPT2_ENST00000415216.1_Missense_Mutation_p.R367C|ANGPT2_ENST00000523120.1_Missense_Mutation_p.R367C|ANGPT2_ENST00000338312.6_Missense_Mutation_p.R316C|MCPH1_ENST00000344683.5_Intron			O15123	ANGP2_HUMAN	angiopoietin 2	368	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to growth factor stimulus (GO:0071363)|germ cell development (GO:0007281)|glomerulus vasculature development (GO:0072012)|leukocyte migration (GO:0050900)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of positive chemotaxis (GO:0050928)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|Tie signaling pathway (GO:0048014)	cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)	p.R368C(4)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		AGCACATAGCGTTGCTGATTA	0.363																																						ENST00000325203.5																			4	Substitution - Missense(4)	p.R368C(4)	large_intestine(2)|lung(2)	breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1102-1104)Cgc>Tgc		angiopoietin 2							105	106	105					8																	6371296		2203	4300	6503	SO:0001583	missense	285				angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding	g.chr8:6371296G>A	AF004327	CCDS5958.1, CCDS47761.1	8p23	2013-02-06			ENSG00000091879	ENSG00000091879		"Fibrinogen C domain containing"	485	protein-coding gene	gene with protein product		601922				9545648	Standard	NM_001147		Approved	Ang2	uc003wqj.4	O15123	OTTHUMG00000090365	ENST00000325203.5:c.1102C>T	8.37:g.6371296G>A	ENSP00000314897:p.Arg368Cys					ANGPT2_ENST00000523120.1_Missense_Mutation_p.R367C|ANGPT2_ENST00000415216.1_Missense_Mutation_p.R367C|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000338312.6_Missense_Mutation_p.R316C	p.R368C			O15123	ANGP2_HUMAN		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)	7	1576	-		Hepatocellular(245;0.0663)	368			Fibrinogen C-terminal.		A0AV38|A8K205|B7ZLM7|Q9NRR7|Q9P2Y7	Missense_Mutation	SNP	ENST00000325203.5	37	c.1102C>T	CCDS5958.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774366	0.49786	.	.	ENSG00000091879	ENST00000325203;ENST00000415216;ENST00000338312;ENST00000523120	T;T;T;T	0.77229	2.01;2.01;2.01;-1.08	4.77	2.89	0.33648	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.424183	0.26560	N	0.023693	T	0.64193	0.2576	L	0.41632	1.29	0.19945	N	0.999941	P;P;P;P	0.43909	0.821;0.734;0.821;0.734	B;B;B;B	0.36134	0.218;0.189;0.218;0.072	T	0.57906	-0.7730	10	0.59425	D	0.04	.	7.8025	0.29183	0.0:0.1588:0.5142:0.327	.	316;367;367;368	O15123-2;E7EVQ3;O15123-3;O15123	.;.;.;ANGP2_HUMAN	C	368;367;316;367	ENSP00000314897:R368C;ENSP00000400782:R367C;ENSP00000343517:R316C;ENSP00000428023:R367C	ENSP00000314897:R368C	R	-	1	0	ANGPT2	6358704	0.007000	0.16637	0.049000	0.19019	0.945000	0.59286	1.456000	0.35201	0.476000	0.27440	0.557000	0.71058	CGC		0.363	ANGPT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206737.1	NM_001147		42	40	0	0	0	1	0	42	40					A	6371296	G	A	6371296	3	1	65	1	0	0	0	0	1	0	0	0	611	1145	40	1	400	1	ANGPT2	8	6371296	Missense_Mutation	SNP	G	TCGA-DE-A4MD-01A-11D-A257-08		6371296	139992726	20	1507											
ST18	9705	broad.mit.edu	37	chr8	53045843	53045843	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacgtgccccgagccatcGcagcctggggttggacacct	13	15	1	0	rs369209561		TCGA-DE-A4MD-01A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128eeeac-803e-489e-bd6d-fa9972824ded	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr8:53045843G>A	ENST00000276480.7	-	20	3002	c.2319C>T	c.(2317-2319)tgC>tgT	p.C773C		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	773					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CCGAGCCATCGCAGCCTGGGG	0.522																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(2317-2319)tgC>tgT		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)		G		0,4406		0,0,2203	82	76	78		2319	-10.7	0.3	8		78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ST18	NM_014682.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		773/1048	53045843	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53045843G>A	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2319C>T	8.37:g.53045843G>A							p.C773C	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			20	3002	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	773					Q17RY1	Silent	SNP	ENST00000276480.7	37	c.2319C>T	CCDS6149.1																																																																																				0.522	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			20	42	0	0	0	1	0	20	42					A	53045843	G	A	53045843	2	1	65	1	0	0	0	0	0	0	0	1	15211	1079	38	1		1	ST18	8	53045843	Silent	SNP	G	TCGA-DE-A4MD-01A-11D-A257-08	46674547	53045843	93318179	21	1508											
TG	7038	broad.mit.edu	37	chr8	133935598	133935600	+	In_Frame_Del	DEL	AGA	AGA	-													tctaggtgtcactgactgtcAgaggaacgaagcaggcctgc							TCGA-DE-A4MD-01A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128eeeac-803e-489e-bd6d-fa9972824ded	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr8:133935598_133935600delAGA	ENST00000220616.4	+	22	4584_4586	c.4544_4546delAGA	c.(4543-4548)cagagg>cgg	p.Q1515del	TG_ENST00000542445.1_5'UTR|TG_ENST00000377869.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1515	Thyroglobulin type-1 11. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ACTGACTGTCAGAGGAACGAAGC	0.562																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(4543-4548)cgg>c		thyroglobulin																																				SO:0001651	inframe_deletion	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133935598_133935600delAGA	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4544_4546delAGA	8.37:g.133935598_133935600delAGA	ENSP00000220616:p.Gln1515del					TG_ENST00000377869.1_Intron|TG_ENST00000542445.1_5'UTR	p.QR1515del	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	22	4584_4586	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1515			Thyroglobulin type-1 11.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	In_Frame_Del	DEL	ENST00000220616.4	37	c.4544_4546delAGA	CCDS34944.1																																																																																				0.562	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		22	44						22	44	---	---	---	---	-	133935600	AGA	-	133935598	7	5	65	1	0	1	0	1	0	0	0	0	15810	188	7	0	4630	0	TG	8	133935598	In_Frame_Del	DEL	AGA	TCGA-DE-A4MD-01A-11D-A257-08	80889755	133935598	12428424	22	1509											
SETX	23064	broad.mit.edu	37	chr9	135205596	135205596	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctatgcagttcaatcactgaTaccaaaattagaagaaaaaa	5	7	2	3			TCGA-DE-A4MD-01A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128eeeac-803e-489e-bd6d-fa9972824ded	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr9:135205596T>A	ENST00000224140.5	-	10	1571	c.1389A>T	c.(1387-1389)gtA>gtT	p.V463V	SETX_ENST00000393220.1_Silent_p.V463V|SETX_ENST00000372169.2_Silent_p.V463V	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	463					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CAATCACTGATACCAAAATTA	0.398																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(1387-1389)gtA>gtT		senataxin							61	58	59					9																	135205596		2203	4299	6502	SO:0001819	synonymous_variant	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135205596T>A	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.1389A>T	9.37:g.135205596T>A						SETX_ENST00000393220.1_Silent_p.V463V|SETX_ENST00000224140.5_Silent_p.V463V	p.V463V			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	1571	-		Myeloproliferative disorder(178;0.204)	463					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Silent	SNP	ENST00000224140.5	37	c.1389A>T	CCDS6947.1																																																																																				0.398	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		4	48	0	0	0	1	0	4	48					A	135205596	T	A	135205596	2	1	65	1	0	0	0	0	0	0	0	1	14141	1393	49	5		5	SETX	9	135205596	Silent	SNP	T	TCGA-DE-A4MD-01A-11D-A257-08		135205596	6007835	23	1510											
GBF1	8729	broad.mit.edu	37	chr10	104136068	104136068	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctcccatcctaccatcagaAtgacgtgagcctggatcgag	10	13	1	3			TCGA-DE-A4MD-01A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128eeeac-803e-489e-bd6d-fa9972824ded	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr10:104136068A>T	ENST00000369983.3	+	31	4183	c.3923A>T	c.(3922-3924)aAt>aTt	p.N1308I		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1308					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TACCATCAGAATGACGTGAGC	0.582																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(3922-3924)aAt>aTt		golgi brefeldin A resistant guanine nucleotide exchange factor 1							93	78	83					10																	104136068		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104136068A>T	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.3923A>T	10.37:g.104136068A>T	ENSP00000359000:p.Asn1308Ile						p.N1308I	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	31	4183	+		Colorectal(252;0.0236)	1308					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.3923A>T	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	A	14.35	2.508365	0.44660	.	.	ENSG00000107862	ENST00000369983	T	0.09817	2.94	5.38	0.344	0.16006	.	0.122041	0.85682	D	0.000000	T	0.03827	0.0108	N	0.03608	-0.345	0.40336	D	0.978982	B;B;B	0.19935	0.03;0.029;0.04	B;B;B	0.22601	0.04;0.026;0.034	T	0.41502	-0.9505	10	0.37606	T	0.19	-6.3534	4.9511	0.14015	0.4696:0.1605:0.3699:0.0	.	1308;1308;1308	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	I	1308	ENSP00000359000:N1308I	ENSP00000359000:N1308I	N	+	2	0	GBF1	104126058	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	2.689000	0.46993	0.139000	0.18822	0.533000	0.62120	AAT		0.582	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			23	18	0	0	0	1	0	23	18					T	104136068	A	T	104136068	3	4	65	1	0	0	0	0	1	0	0	0	6271	101	4	5	4041	5	GBF1	10	104136068	Missense_Mutation	SNP	A	TCGA-DE-A4MD-01A-11D-A257-08		104136068	31398679	24	1511											
FOLH1	2346	broad.mit.edu	37	chr11	49175929	49175929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctcaaacaccatccctcctCgaacctgggccacagtgagg	9	16	1	1			TCGA-DE-A4MD-01A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128eeeac-803e-489e-bd6d-fa9972824ded	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr11:49175929C>T	ENST00000256999.2	-	16	1999	c.1739G>A	c.(1738-1740)cGa>cAa	p.R580Q	FOLH1_ENST00000533034.1_Missense_Mutation_p.R565Q|FOLH1_ENST00000340334.7_Missense_Mutation_p.R565Q|FOLH1_ENST00000343844.4_Missense_Mutation_p.R272Q|FOLH1_ENST00000356696.3_Missense_Mutation_p.R580Q	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	580	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	CATCCCTCCTCGAACCTGGGC	0.408																																						ENST00000340334.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60						c.(1693-1695)cGa>cAa		folate hydrolase (prostate-specific membrane antigen) 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						79	67	71					11																	49175929		2200	4278	6478	SO:0001583	missense	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49175929C>T	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1739G>A	11.37:g.49175929C>T	ENSP00000256999:p.Arg580Gln					FOLH1_ENST00000343844.4_Missense_Mutation_p.R272Q|FOLH1_ENST00000256999.2_Missense_Mutation_p.R580Q|FOLH1_ENST00000533034.1_Missense_Mutation_p.R565Q|FOLH1_ENST00000356696.3_Missense_Mutation_p.R580Q	p.R565Q	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN			17	2062	-			580			NAALADase.		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	c.1694G>A	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.927996	0.73327	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034	T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09	3.62	3.62	0.41486	.	0.000000	0.45606	D	0.000343	T	0.56046	0.1959	L	0.51914	1.62	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.984	D;D;D;P	0.97110	0.995;1.0;0.926;0.684	T	0.55909	-0.8066	10	0.44086	T	0.13	.	13.124	0.59342	0.0:1.0:0.0:0.0	.	565;565;580;580	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	Q	580;580;565;272;565	ENSP00000256999:R580Q;ENSP00000349129:R580Q;ENSP00000344131:R565Q;ENSP00000344086:R272Q;ENSP00000431463:R565Q	ENSP00000256999:R580Q	R	-	2	0	FOLH1	49132505	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.912000	0.75753	2.044000	0.60594	0.404000	0.27445	CGA		0.408	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		43	54	0	0	0	1	0	43	54					T	49175929	C	T	49175929	3	4	65	1	0	0	0	0	1	0	0	0	5979	884	31	1	529	1	FOLH1	11	49175929	Missense_Mutation	SNP	C	TCGA-DE-A4MD-01A-11D-A257-08		49175929	85830587	25	1512											
MEN1	4221	broad.mit.edu	37	chr11	64575521	64575521	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcccggagacccagggcctGgcaggccccaaccacagcaa	11	17	0	1			TCGA-DE-A4MD-01A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128eeeac-803e-489e-bd6d-fa9972824ded	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr11:64575521G>A	ENST00000337652.1	-	3	1014	c.511C>T	c.(511-513)Cag>Tag	p.Q171*	MEN1_ENST00000394374.2_Nonsense_Mutation_p.Q171*|MEN1_ENST00000377316.2_Nonsense_Mutation_p.Q166*|MEN1_ENST00000312049.6_Nonsense_Mutation_p.Q166*|MEN1_ENST00000377313.1_Nonsense_Mutation_p.Q171*|MEN1_ENST00000315422.4_Nonsense_Mutation_p.Q166*|MEN1_ENST00000377321.1_Nonsense_Mutation_p.Q166*|MEN1_ENST00000377326.3_Nonsense_Mutation_p.Q166*|MEN1_ENST00000394376.1_Nonsense_Mutation_p.Q171*|MEN1_ENST00000478548.1_5'Flank|MEN1_ENST00000443283.1_Nonsense_Mutation_p.Q171*	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	171			Missing (in MEN1). {ECO:0000269|PubMed:9747036}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|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 activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CCCAGGGCCTGGCAGGCCCCA	0.602			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	ENST00000337652.1			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	"D, Mis, N, F, S"	multiple endocrine neoplasia type 1 gene			E		"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"	"parathyroid tumors, Pancreatic neuroendocrine tumors"		0				NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337	GRCh37	CM983963	MEN1	M		c.(511-513)Cag>Tag		multiple endocrine neoplasia I							38	39	38					11																	64575521		2201	4297	6498	SO:0001587	stop_gained	0	Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64575521G>A	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"menin"	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.511C>T	11.37:g.64575521G>A	ENSP00000337088:p.Gln171*					MEN1_ENST00000394376.1_Nonsense_Mutation_p.Q171*|MEN1_ENST00000377321.1_Nonsense_Mutation_p.Q166*|MEN1_ENST00000377313.1_Nonsense_Mutation_p.Q171*|MEN1_ENST00000394374.2_Nonsense_Mutation_p.Q171*|MEN1_ENST00000377326.3_Nonsense_Mutation_p.Q166*|MEN1_ENST00000443283.1_Nonsense_Mutation_p.Q171*|MEN1_ENST00000377316.2_Nonsense_Mutation_p.Q166*|MEN1_ENST00000312049.6_Nonsense_Mutation_p.Q166*|MEN1_ENST00000315422.4_Nonsense_Mutation_p.Q166*	p.Q171*	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN			3	1014	-			171		Missing (in MEN1).			A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Nonsense_Mutation	SNP	ENST00000337652.1	37	c.511C>T	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	G	36	5.718322	0.96839	.	.	ENSG00000133895	ENST00000377316;ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313;ENST00000440873;ENST00000450708;ENST00000413626	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-31.2802	15.7433	0.77920	0.0:0.0:1.0:0.0	.	.	.	.	X	166;166;166;166;166;171;171;171;171;171;166;166;166	.	ENSP00000308975:Q166X	Q	-	1	0	MEN1	64332097	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.690000	0.91272	2.386000	0.81285	0.462000	0.41574	CAG		0.602	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			12	0	0	0	0	1	0	12	0					A	64575521	G	A	64575521	4	1	65	1	0	0	0	0	0	1	0	0	9472	1357	47	2	1368	2	MEN1	11	64575521	Nonsense_Mutation	SNP	G	TCGA-DE-A4MD-01A-11D-A257-08	15399592	64575521	70430995	26	1513											
ARAP1	116985	broad.mit.edu	37	chr11	72423246	72423246	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agaggcctcactcacccctgCggtgggttcttgtccagcca	11	15	3	1	rs149772953	byFrequency	TCGA-DE-A4MD-01A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128eeeac-803e-489e-bd6d-fa9972824ded	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr11:72423246C>G	ENST00000393609.3	-	7	1219	c.1017G>C	c.(1015-1017)ccG>ccC	p.P339P	ARAP1_ENST00000429686.1_Silent_p.P94P|ARAP1_ENST00000393605.3_Silent_p.P99P|ARAP1_ENST00000334211.8_Silent_p.P94P|ARAP1_ENST00000359373.5_Silent_p.P339P|ARAP1_ENST00000455638.2_Silent_p.P339P|ARAP1_ENST00000426523.1_Silent_p.P94P	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	339	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CTCACCCCTGCGGTGGGTTCT	0.652																																					Ovarian(102;1198 1520 13195 17913 37529)	ENST00000359373.5																			0				cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						c.(1015-1017)ccG>ccC		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1							30	32	31					11																	72423246		2200	4293	6493	SO:0001819	synonymous_variant	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72423246C>G	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16925	protein-coding gene	gene with protein product		606646	"centaurin, delta 2"	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.1017G>C	11.37:g.72423246C>G						ARAP1_ENST00000426523.1_Silent_p.P94P|ARAP1_ENST00000393609.3_Silent_p.P339P|ARAP1_ENST00000455638.2_Silent_p.P339P|ARAP1_ENST00000429686.1_Silent_p.P94P|ARAP1_ENST00000334211.8_Silent_p.P94P|ARAP1_ENST00000393605.3_Silent_p.P99P	p.P339P			Q96P48	ARAP1_HUMAN			7	1868	-			339			PH 1.		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Silent	SNP	ENST00000393609.3	37	c.1017G>C	CCDS41687.1																																																																																				0.652	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		3	20	0	0	0	1	0	3	20					G	72423246	C	G	72423246	2	3	65	1	0	0	0	0	0	0	0	1	838	755	27	4		4	ARAP1	11	72423246	Silent	SNP	C	TCGA-DE-A4MD-01A-11D-A257-08	7847725	72423246	62583270	27	1514											
MMP12	4321	broad.mit.edu	37	chr11	102736506	102736506	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaccaaccattaaaactcaCctccaatactggttatctac	3	13	2	1			TCGA-DE-A4MD-01A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128eeeac-803e-489e-bd6d-fa9972824ded	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr11:102736506C>T	ENST00000532855.1	-	0	1301							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	TTAAAACTCACCTCCAATACT	0.383																																						ENST00000532855.1																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)						47	45	45					11																	102736506		1828	4070	5898			4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102736506C>T	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"matrix metalloproteinase 12 (macrophage elastase)"				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102736506C>T										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	1301	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	SNP	ENST00000532855.1	37																																																																																						0.383	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		8	0	0	0	0	1	0	8	0					T	102736506	C	T	102736506	1	4	65	0	1	0	0	0	0	0	0	0	9651	521	18	2		2	MMP12	11	102736506	RNA	SNP	C	TCGA-DE-A4MD-01A-11D-A257-08	30313260	102736506	32270010	28	1515											
PEX5	5830	broad.mit.edu	37	chr12	7362742	7362742	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtttggcattgtctatgttaGgccagagcgatgcctatggg	14	7	1	1			TCGA-DE-A4MD-01A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128eeeac-803e-489e-bd6d-fa9972824ded	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr12:7362742G>T	ENST00000455147.2	+	17	2423	c.1843G>T	c.(1843-1845)Ggc>Tgc	p.G615C	PEX5_ENST00000420616.2_Missense_Mutation_p.G615C|PEX5_ENST00000266564.3_Missense_Mutation_p.G607C|PEX5_ENST00000412720.2_Missense_Mutation_p.G636C|PEX5_ENST00000266563.5_Missense_Mutation_p.G578C|PEX5_ENST00000434354.2_Missense_Mutation_p.G630C	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	615					cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GTCTATGTTAGGCCAGAGCGA	0.622																																						ENST00000266563.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						c.(1732-1734)Ggc>Tgc		peroxisomal biogenesis factor 5							88	80	83					12																	7362742		2203	4300	6503	SO:0001583	missense	5830				protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding	g.chr12:7362742G>T	U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"Tetratricopeptide (TTC) repeat domain containing"	9719	protein-coding gene	gene with protein product		600414	"peroxisome receptor 1"	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.1843G>T	12.37:g.7362742G>T	ENSP00000400647:p.Gly615Cys					PEX5_ENST00000434354.2_Missense_Mutation_p.G630C|PEX5_ENST00000266564.3_Missense_Mutation_p.G607C|PEX5_ENST00000420616.2_Missense_Mutation_p.G615C|PEX5_ENST00000412720.2_Missense_Mutation_p.G636C|PEX5_ENST00000455147.2_Missense_Mutation_p.G615C	p.G578C	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN			15	1915	+			615					A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Missense_Mutation	SNP	ENST00000455147.2	37	c.1732G>T	CCDS44823.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495987	0.85069	.	.	ENSG00000139197	ENST00000455147;ENST00000266563;ENST00000434354;ENST00000420616;ENST00000412720;ENST00000266564	T;T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32;-1.32	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.90017	0.6883	M	0.77313	2.365	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.998;0.998	D;P;D;D;D	0.91635	0.999;0.904;0.929;0.934;0.956	D	0.90854	0.4733	10	0.72032	D	0.01	.	18.7051	0.91635	0.0:0.0:1.0:0.0	.	636;630;615;607;578	B4E0T2;B4DZ45;P50542;P50542-3;P50542-2	.;.;PEX5_HUMAN;.;.	C	615;578;630;615;636;607	ENSP00000400647:G615C;ENSP00000266563:G578C;ENSP00000407401:G630C;ENSP00000410159:G615C;ENSP00000391601:G636C;ENSP00000266564:G607C	ENSP00000266563:G578C	G	+	1	0	PEX5	7254009	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	9.657000	0.98554	2.659000	0.90383	0.561000	0.74099	GGC		0.622	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398611.1	NM_000319		49	48	1	0	3.76343e-11	1	4.29163e-11	49	48					T	7362742	G	T	7362742	3	4	65	1	0	0	0	0	1	0	0	0	11748	1000	35	4	1946	4	PEX5	12	7362742	Missense_Mutation	SNP	G	TCGA-DE-A4MD-01A-11D-A257-08		7362742	126489153	29	1516											
LRRK2	120892	broad.mit.edu	37	chr12	40745381	40745381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgaattagtctgtctgaCgagacgcattttattaccta	8	8	2	3	rs111691891		TCGA-DE-A4MD-01A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128eeeac-803e-489e-bd6d-fa9972824ded	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr12:40745381C>T	ENST00000298910.7	+	44	6480	c.6422C>T	c.(6421-6423)aCg>aTg	p.T2141M		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2141			T -> M (in PARK8). {ECO:0000269|PubMed:18213618}.		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)	p.T2141M(1)|p.T2148M(1)		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)				GTCTGTCTGACGAGACGCATT	0.388																																						ENST00000298910.7																			2	Substitution - Missense(2)	p.T2141M(1)|p.T2148M(1)	stomach(2)	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	GRCh37	CM081687	LRRK2	M	rs111691891	c.(6421-6423)aCg>aTg		leucine-rich repeat kinase 2							61	60	60					12																	40745381		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.chr12:40745381C>T	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.6422C>T	12.37:g.40745381C>T	ENSP00000298910:p.Thr2141Met						p.T2141M	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			44	6480	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	2141		T -> M (in PARK8).			A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.6422C>T	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	C	0.119	-1.128345	0.01770	.	.	ENSG00000188906	ENST00000298910	T	0.70631	-0.5	6.06	2.37	0.29283	.	0.067067	0.85682	N	0.000000	T	0.32010	0.0815	N	0.00230	-1.795	0.24560	N	0.993976	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.30822	-0.9965	10	0.17832	T	0.49	.	12.4086	0.55453	0.0:0.1252:0.0:0.8748	.	2141;2141	Q17RV3;Q5S007	.;LRRK2_HUMAN	M	2141	ENSP00000298910:T2141M	ENSP00000298910:T2141M	T	+	2	0	LRRK2	39031648	1.000000	0.71417	0.998000	0.56505	0.503000	0.33858	3.171000	0.50824	0.183000	0.20059	-1.119000	0.02030	ACG		0.388	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		19	33	0	0	0	1	0	19	33					T	40745381	C	T	40745381	3	4	65	1	0	0	0	0	1	0	0	0	9033	536	19	1	6596	1	LRRK2	12	40745381	Missense_Mutation	SNP	C	TCGA-DE-A4MD-01A-11D-A257-08	33382639	40745381	93106514	30	1517											
DDN	23109	broad.mit.edu	37	chr12	49392347	49392347	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgctcccgagctcggacCtcggccaggggccccgcccg	13	19	1	0			TCGA-DE-A4MD-01A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128eeeac-803e-489e-bd6d-fa9972824ded	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr12:49392347C>T	ENST00000421952.2	-	2	333	c.312G>A	c.(310-312)gaG>gaA	p.E104E	RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.3_ENST00000549516.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	104						cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GAGCTCGGACCTCGGCCAGGG	0.741																																						ENST00000421952.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						c.(310-312)gaG>gaA		dendrin							9	11	10					12																	49392347		2039	3905	5944	SO:0001819	synonymous_variant	23109					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		g.chr12:49392347C>T	AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.312G>A	12.37:g.49392347C>T						RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA	p.E104E	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN			2	333	-			104						Silent	SNP	ENST00000421952.2	37	c.312G>A	CCDS31791.2																																																																																				0.741	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1			15	26	0	0	0	1	0	15	26					T	49392347	C	T	49392347	2	4	65	1	0	0	0	0	0	0	0	1	4333	680	24	2		2	DDN	12	49392347	Silent	SNP	C	TCGA-DE-A4MD-01A-11D-A257-08	8646966	49392347	84459548	31	1518											
TCTN2	79867	broad.mit.edu	37	chr12	124179517	124179517	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcagagattaatgcccacCagaaaggtaactttgatgag	12	7	0	4			TCGA-DE-A4MD-01A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128eeeac-803e-489e-bd6d-fa9972824ded	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr12:124179517C>T	ENST00000303372.5	+	10	1356	c.1228C>T	c.(1228-1230)Cag>Tag	p.Q410*	TCTN2_ENST00000426174.2_Nonsense_Mutation_p.Q409*	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	410					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TAATGCCCACCAGAAAGGTAA	0.299																																						ENST00000303372.5																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1228-1230)Cag>Tag		tectonic family member 2							42	47	45					12																	124179517		2196	4299	6495	SO:0001587	stop_gained	79867				cilium assembly|smoothened signaling pathway	integral to membrane		g.chr12:124179517C>T	AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"Tectonic proteins"	25774	protein-coding gene	gene with protein product	"Meckel syndrome, type 8"	613846	"chromosome 12 open reading frame 38"	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.1228C>T	12.37:g.124179517C>T	ENSP00000304941:p.Gln410*					TCTN2_ENST00000426174.2_Nonsense_Mutation_p.Q409*	p.Q410*	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)	10	1356	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		410					A8K7Y8|B3KPW5|Q9H966	Nonsense_Mutation	SNP	ENST00000303372.5	37	c.1228C>T	CCDS9253.1	.	.	.	.	.	.	.	.	.	.	C	38	7.072069	0.98044	.	.	ENSG00000168778	ENST00000426174;ENST00000303372	.	.	.	5.36	4.43	0.53597	.	0.702623	0.13606	N	0.375451	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-2.8292	3.3019	0.06985	0.2613:0.4964:0.1513:0.091	.	.	.	.	X	409;410	.	ENSP00000304941:Q410X	Q	+	1	0	TCTN2	122745470	0.679000	0.27596	0.850000	0.33497	0.973000	0.67179	0.937000	0.28951	1.182000	0.42928	0.558000	0.71614	CAG		0.299	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1	NM_024809		29	27	0	0	0	1	0	29	27					T	124179517	C	T	124179517	4	4	65	1	0	0	0	0	0	1	0	0	15720	595	21	2	1266	2	TCTN2	12	124179517	Nonsense_Mutation	SNP	C	TCGA-DE-A4MD-01A-11D-A257-08	74787170	124179517	9672378	32	1519											
FRY	10129	broad.mit.edu	37	chr13	32802773	32802773	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagaaggcaaacaagctcaTtgagtttctcacgaccaggt	10	9	2	2			TCGA-DE-A4MD-01A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128eeeac-803e-489e-bd6d-fa9972824ded	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr13:32802773T>C	ENST00000380250.3	+	40	5883	c.5387T>C	c.(5386-5388)aTt>aCt	p.I1796T		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1796						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AACAAGCTCATTGAGTTTCTC	0.493																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(5386-5388)aTt>aCt		furry homolog (Drosophila)							101	103	102					13																	32802773		1990	4165	6155	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32802773T>C	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.5387T>C	13.37:g.32802773T>C	ENSP00000369600:p.Ile1796Thr						p.I1796T	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	40	5883	+		Lung SC(185;0.0271)	1796					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.5387T>C	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.427615	0.83667	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.33438	1.41	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.41949	0.1181	M	0.78637	2.42	0.80722	D	1	B	0.32893	0.389	B	0.35899	0.213	T	0.41466	-0.9507	10	0.87932	D	0	.	16.542	0.84395	0.0:0.0:0.0:1.0	.	1796	Q5TBA9	FRY_HUMAN	T	1796;633	ENSP00000369600:I1796T	ENSP00000369600:I1796T	I	+	2	0	FRY	31700773	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	2.304000	0.77564	0.528000	0.53228	ATT		0.493	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		38	44	0	0	0	1	0	38	44					C	32802773	T	C	32802773	3	2	65	1	0	0	0	0	1	0	0	0	6063	1493	52	3	5545	3	FRY	13	32802773	Missense_Mutation	SNP	T	TCGA-DE-A4MD-01A-11D-A257-08		32802773	82367105	33	1520											
TEP1	7011	broad.mit.edu	37	chr14	20852647	20852647	+	Frame_Shift_Del	DEL	C	C	-													agggccggccagctgccacaCccccccactcacaggggtat							TCGA-DE-A4MD-01A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128eeeac-803e-489e-bd6d-fa9972824ded	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr14:20852647delC	ENST00000262715.5	-	23	3282	c.3242delG	c.(3241-3243)ggtfs	p.G1081fs	TEP1_ENST00000545983.1_5'Flank|TEP1_ENST00000556935.1_Frame_Shift_Del_p.G973fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1081					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)	p.V1082fs*47(1)		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)		AGCTGCCACACCCCCCCACTC	0.587																																						ENST00000262715.5																			1	Insertion - Frameshift(1)	p.V1082fs*47(1)	large_intestine(1)	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.(3241-3243)gtfs		telomerase-associated protein 1							108	128	121					14																	20852647		2203	4300	6503	SO:0001589	frameshift_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20852647delC		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.3242delG	14.37:g.20852647delC	ENSP00000262715:p.Gly1081fs					TEP1_ENST00000556935.1_Frame_Shift_Del_p.G973fs	p.G1081fs	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)	23	3282	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1081					A0AUV9	Frame_Shift_Del	DEL	ENST00000262715.5	37	c.3242delG	CCDS9548.1																																																																																				0.587	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		7	366						7	366	---	---	---	---	-	20852647	C	-	20852647	7	5	65	1	0	1	0	1	0	0	0	0	15756	507	18	0	4773	0	TEP1	14	20852647	Frame_Shift_Del	DEL	C	TCGA-DE-A4MD-01A-11D-A257-08		20852647	86496893	34	1521											
NYNRIN	57523	broad.mit.edu	37	chr14	24886268	24886268	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtcaaggctcacggagccCctgtggtgggagatgagcag	17	9	2	2			TCGA-DE-A4MD-01A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128eeeac-803e-489e-bd6d-fa9972824ded	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr14:24886268C>T	ENST00000382554.3	+	9	5631	c.5313C>T	c.(5311-5313)ccC>ccT	p.P1771P		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1771	Integrase catalytic. {ECO:0000255|PROSITE-ProRule:PRU00457}.				DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TCACGGAGCCCCTGTGGTGGG	0.632																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(5311-5313)ccC>ccT		NYN domain and retroviral integrase containing							43	47	46					14																	24886268		2052	4192	6244	SO:0001819	synonymous_variant	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24886268C>T	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.5313C>T	14.37:g.24886268C>T							p.P1771P	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			9	5631	+			1771			Integrase catalytic.		Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	37	c.5313C>T	CCDS45090.1																																																																																				0.632	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			44	34	0	0	0	1	0	44	34					T	24886268	C	T	24886268	2	4	65	1	0	0	0	0	0	0	0	1	10796	610	22	2		2	NYNRIN	14	24886268	Silent	SNP	C	TCGA-DE-A4MD-01A-11D-A257-08	4033621	24886268	82463272	35	1522											
RAGE	5891	broad.mit.edu	37	chr14	102718108	102718108	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttacctttattagtatattTtctggttttacatctctgtg	5	7	2	0			TCGA-DE-A4MD-01A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128eeeac-803e-489e-bd6d-fa9972824ded	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr14:102718108T>C	ENST00000361847.2	-	6	627	c.396A>G	c.(394-396)gaA>gaG	p.E132E	MOK_ENST00000524214.1_Silent_p.E102E|MOK_ENST00000193029.6_5'UTR|MOK_ENST00000522874.1_Silent_p.E132E	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	132	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)										TTAGTATATTTTCTGGTTTTA	0.308																																						ENST00000361847.2																			0											c.(394-396)gaA>gaG		MOK protein kinase							47	46	46					14																	102718108		2202	4299	6501	SO:0001819	synonymous_variant	5891				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr14:102718108T>C	AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823			9833	protein-coding gene	gene with protein product		605762	"renal tumor antigen"	RAGE		8781117, 10421840	Standard	NM_014226		Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.396A>G	14.37:g.102718108T>C						MOK_ENST00000193029.6_5'UTR|MOK_ENST00000524214.1_Silent_p.E102E|MOK_ENST00000522874.1_Silent_p.E132E	p.E132E	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN			6	627	-			132			Protein kinase.		B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Silent	SNP	ENST00000361847.2	37	c.396A>G	CCDS9971.1																																																																																				0.308	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380848.3			7	13	0	0	0	1	0	7	13					C	102718108	T	C	102718108	2	2	65	1	0	0	0	0	0	0	0	1	13006	1838	64	3		3	RAGE	14	102718108	Silent	SNP	T	TCGA-DE-A4MD-01A-11D-A257-08	77831840	102718108	4631432	36	1523											
AHNAK2	113146	broad.mit.edu	37	chr14	105409427	105409427	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcacatccttgtcggccaGggacaggtccccctccagct	10	16	1	0			TCGA-DE-A4MD-01A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128eeeac-803e-489e-bd6d-fa9972824ded	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr14:105409427G>A	ENST00000333244.5	-	7	12480	c.12361C>T	c.(12361-12363)Ctg>Ttg	p.L4121L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4121						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)			TTGTCGGCCAGGGACAGGTCC	0.587																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(12361-12363)Ctg>Ttg		AHNAK nucleoprotein 2							247	258	254					14																	105409427		2014	4154	6168	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105409427G>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.12361C>T	14.37:g.105409427G>A						AHNAK2_ENST00000557457.1_Intron	p.L4121L	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	12480	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4121					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.12361C>T	CCDS45177.1																																																																																				0.587	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		7	416	0	0	0	1	0	7	416					A	105409427	G	A	105409427	2	1	65	1	0	0	0	0	0	0	0	1	415	991	35	2		2	AHNAK2	14	105409427	Silent	SNP	G	TCGA-DE-A4MD-01A-11D-A257-08	2691319	105409427	1940113	37	1524											
STAT5A	6776	broad.mit.edu	37	chr17	40447745	40447745	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaggacacagagaatgagCtgaagaaactgcagcagact	12	9	0	5			TCGA-DE-A4MD-01A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128eeeac-803e-489e-bd6d-fa9972824ded	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr17:40447745C>T	ENST00000345506.4	+	6	1126	c.484C>T	c.(484-486)Ctg>Ttg	p.L162L	STAT5A_ENST00000452307.2_Silent_p.L162L|STAT5A_ENST00000590949.1_Silent_p.L162L|STAT5A_ENST00000588868.1_Silent_p.L162L|STAT5A_ENST00000546010.2_Silent_p.L132L	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	162					2-oxoglutarate metabolic process (GO:0006103)|allantoin metabolic process (GO:0000255)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|luteinization (GO:0001553)|mammary gland epithelium development (GO:0061180)|natural killer cell differentiation (GO:0001779)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of mast cell apoptotic process (GO:0033026)|oxaloacetate metabolic process (GO:0006107)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mast cell differentiation (GO:0060376)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin signaling pathway (GO:0038161)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription, DNA-templated (GO:0006351)|valine metabolic process (GO:0006573)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	calcium ion binding (GO:0005509)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		AGAGAATGAGCTGAAGAAACT	0.567																																						ENST00000345506.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(484-486)Ctg>Ttg		signal transducer and activator of transcription 5A							96	70	79					17																	40447745		2203	4300	6503	SO:0001819	synonymous_variant	6776				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr17:40447745C>T	U43185	CCDS11424.1, CCDS74066.1, CCDS74067.1	17q11.2	2013-02-14			ENSG00000126561	ENSG00000126561		"SH2 domain containing"	11366	protein-coding gene	gene with protein product		601511		STAT5		7719937, 8631883	Standard	NM_003152		Approved	MGF	uc002hzj.2	P42229	OTTHUMG00000150725	ENST00000345506.4:c.484C>T	17.37:g.40447745C>T						STAT5A_ENST00000452307.2_Silent_p.L162L|STAT5A_ENST00000588868.1_Silent_p.L162L|STAT5A_ENST00000546010.2_Silent_p.L132L|STAT5A_ENST00000590949.1_Silent_p.L162L	p.L162L	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.128)	6	1126	+		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)	162					Q1KLZ6	Silent	SNP	ENST00000345506.4	37	c.484C>T	CCDS11424.1																																																																																				0.567	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319804.1	NM_003152		14	15	0	0	0	1	0	14	15					T	40447745	C	T	40447745	2	4	65	1	0	0	0	0	0	0	0	1	15267	796	28	2		2	STAT5A	17	40447745	Silent	SNP	C	TCGA-DE-A4MD-01A-11D-A257-08		40447745	40747465	38	1525											
MLL4	9757	broad.mit.edu	37	chr19	36216141	36216141	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggattgtgatttagagaaCgtgtggctgatggggggcct	18	4	0	3			TCGA-DE-A4MD-01A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128eeeac-803e-489e-bd6d-fa9972824ded	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr19:36216141C>T	ENST00000222270.7	+	11	3549	c.3549C>T	c.(3547-3549)aaC>aaT	p.N1183N	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Silent_p.N1183N	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1183					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										ATTTAGAGAACGTGTGGCTGA	0.592																																						ENST00000222270.7																			0											c.(3547-3549)aaC>aaT									27	31	30					19																	36216141		1986	4152	6138	SO:0001819	synonymous_variant	0							g.chr19:36216141C>T	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.3549C>T	19.37:g.36216141C>T						KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Silent_p.N1183N	p.N1183N	NM_014727.1	NP_055542.1					11	3549	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Silent	SNP	ENST00000222270.7	37	c.3549C>T	CCDS46055.1																																																																																				0.592	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		10	10	0	0	0	1	0	10	10					T	36216141	C	T	36216141	2	4	65	1	0	0	0	0	0	0	0	1	9623	535	19	1		1	MLL4	19	36216141	Silent	SNP	C	TCGA-DE-A4MD-01A-11D-A257-08		36216141	22912842	39	1526											
IRF2BP1	26145	broad.mit.edu	37	chr19	46387368	46387368	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcccagggcacggaggagccGaccagcgggcacttgtctcc	15	15	1	0			TCGA-DE-A4MD-01A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128eeeac-803e-489e-bd6d-fa9972824ded	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr19:46387368G>A	ENST00000302165.3	-	1	2008	c.1665C>T	c.(1663-1665)gtC>gtT	p.V555V		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	555					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CGGAGGAGCCGACCAGCGGGC	0.632																																						ENST00000302165.3																			0				cervix(1)|kidney(1)|lung(2)	4						c.(1663-1665)gtC>gtT		interferon regulatory factor 2 binding protein 1							49	47	48					19																	46387368		2202	4300	6502	SO:0001819	synonymous_variant	26145				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr19:46387368G>A	AY278022	CCDS12678.1	19q13.32	2008-02-05							21728	protein-coding gene	gene with protein product		615331				12799427	Standard	NM_015649		Approved	DKFZP434M154, IRF-2BP1	uc002pds.1	Q8IU81		ENST00000302165.3:c.1665C>T	19.37:g.46387368G>A							p.V555V	NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)	1	2008	-		all_neural(266;0.113)|Ovarian(192;0.127)	555					Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4	Silent	SNP	ENST00000302165.3	37	c.1665C>T	CCDS12678.1																																																																																				0.632	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461683.1	NM_015649		12	19	0	0	0	1	0	12	19					A	46387368	G	A	46387368	2	1	65	1	0	0	0	0	0	0	0	1	7829	1045	37	1		1	IRF2BP1	19	46387368	Silent	SNP	G	TCGA-DE-A4MD-01A-11D-A257-08	10171227	46387368	12741615	40	1527											
CLDN14	23562	broad.mit.edu	37	chr21	37833680	37833680	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgcccttggcgcagcgcGtgcacttcatcccgatgacg	13	14	1	1			TCGA-DE-A4MD-01A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128eeeac-803e-489e-bd6d-fa9972824ded	59a49a5a-e5fc-4684-b043-d5992e423463	g.chr21:37833680G>A	ENST00000399137.1	-	3	1180	c.314C>T	c.(313-315)aCg>aTg	p.T105M	AP000695.4_ENST00000454980.1_RNA|CLDN14_ENST00000399135.1_Missense_Mutation_p.T105M|CLDN14_ENST00000342108.2_Missense_Mutation_p.T105M|AP000695.6_ENST00000429588.1_RNA|AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000399139.1_Missense_Mutation_p.T105M|CLDN14_ENST00000399136.1_Missense_Mutation_p.T105M	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	105					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|protein complex assembly (GO:0006461)|tight junction assembly (GO:0070830)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|lung(5)|skin(1)	7						GGCGCAGCGCGTGCACTTCAT	0.687																																						ENST00000399137.1																			0				endometrium(1)|lung(5)|skin(1)	7						c.(313-315)aCg>aTg		claudin 14							52	52	52					21																	37833680		2203	4299	6502	SO:0001583	missense	23562				calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr21:37833680G>A	AJ132445	CCDS13645.1	21q22.3	2008-07-31			ENSG00000159261	ENSG00000159261		"Claudins"	2035	protein-coding gene	gene with protein product		605608		DFNB29		11163249	Standard	NM_144492		Approved		uc002yvk.2	O95500	OTTHUMG00000086638	ENST00000399137.1:c.314C>T	21.37:g.37833680G>A	ENSP00000382090:p.Thr105Met					AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000399135.1_Missense_Mutation_p.T105M|CLDN14_ENST00000399136.1_Missense_Mutation_p.T105M|CLDN14_ENST00000399139.1_Missense_Mutation_p.T105M|CLDN14_ENST00000342108.2_Missense_Mutation_p.T105M|AP000695.6_ENST00000429588.1_RNA	p.T105M	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN			3	1180	-			105						Missense_Mutation	SNP	ENST00000399137.1	37	c.314C>T	CCDS13645.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090856	0.76756	.	.	ENSG00000159261	ENST00000399139;ENST00000399137;ENST00000399135;ENST00000399136;ENST00000342108	D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.95194	0.8442	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95287	0.8391	10	0.59425	D	0.04	.	19.2271	0.93821	0.0:0.0:1.0:0.0	.	105	O95500	CLD14_HUMAN	M	105	ENSP00000382092:T105M;ENSP00000382090:T105M;ENSP00000382087:T105M;ENSP00000382088:T105M;ENSP00000339292:T105M	ENSP00000339292:T105M	T	-	2	0	CLDN14	36755550	1.000000	0.71417	0.973000	0.42090	0.488000	0.33401	9.731000	0.98807	2.526000	0.85167	0.462000	0.41574	ACG		0.687	CLDN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194697.1	NM_144492		35	40	0	0	0	1	0	35	40					A	37833680	G	A	37833680	3	1	65	1	0	0	0	0	1	0	0	0	3475	1145	40	1	409	1	CLDN14	21	37833680	Missense_Mutation	SNP	G	TCGA-DE-A4MD-01A-11D-A257-08		37833680	10296215	41	1528											
RPS4X	6191	broad.mit.edu	37	chrX	71493125	71493125	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaagtcgagtggcaaagctgTtgccattggcatctttcacg	11	9	2	0			TCGA-DE-A4MD-01A-11D-A257-08	TCGA-DE-A4MD-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128eeeac-803e-489e-bd6d-fa9972824ded	59a49a5a-e5fc-4684-b043-d5992e423463	g.chrX:71493125T>A	ENST00000316084.6	-	6	751	c.647A>T	c.(646-648)aAc>aTc	p.N216I	RPS4X_ENST00000486733.1_5'UTR	NM_001007.4	NP_000998.1	P62701	RS4X_HUMAN	ribosomal protein S4, X-linked	216					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			NS(1)|large_intestine(1)	2	Renal(35;0.156)					GGCAAAGCTGTTGCCATTGGC	0.463																																						ENST00000316084.6																			0				NS(1)|large_intestine(1)	2						c.(646-648)aAc>aTc		ribosomal protein S4, X-linked							70	58	62					X																	71493125		2203	4300	6503	SO:0001583	missense	6191				endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|polysome	rRNA binding|structural constituent of ribosome	g.chrX:71493125T>A		CCDS14418.1	Xq13.1	2011-04-05			ENSG00000198034	ENSG00000198034		"S ribosomal proteins"	10424	protein-coding gene	gene with protein product	"40S ribosomal protein S4, X isoform", "ribosomal protein S4X isoform", "single-copy abundant mRNA", "cell cycle gene 2"	312760				1795030, 8139551	Standard	NM_001007		Approved	DXS306, CCG2, SCAR, SCR10, FLJ40595, RPS4, S4	uc004ear.3	P62701	OTTHUMG00000021813	ENST00000316084.6:c.647A>T	X.37:g.71493125T>A	ENSP00000362744:p.Asn216Ile					RPS4X_ENST00000486733.1_5'UTR	p.N216I	NM_001007.4	NP_000998.1	P62701	RS4X_HUMAN			6	751	-	Renal(35;0.156)		216					P12631|P12750|P27576|P55831|Q14727|Q6IPY4	Missense_Mutation	SNP	ENST00000316084.6	37	c.647A>T	CCDS14418.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.073787	0.76415	.	.	ENSG00000198034	ENST00000316084	D	0.94650	-3.48	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	D	0.95680	0.8595	M	0.86651	2.83	0.80722	D	1	P	0.40909	0.732	P	0.47102	0.537	D	0.95819	0.8848	10	0.87932	D	0	.	11.1003	0.48170	0.0:0.0:0.0:1.0	.	216	P62701	RS4X_HUMAN	I	216	ENSP00000362744:N216I	ENSP00000362744:N216I	N	-	2	0	RPS4X	71409850	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.859000	0.86982	1.587000	0.49959	0.486000	0.48141	AAC		0.463	RPS4X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057188.1	NM_001007		40	0	0	0	0	1	0	40	0					A	71493125	T	A	71493125	3	1	65	1	0	0	0	0	1	0	0	0	13645	1725	60	5	152	5	RPS4X	23	71493125	Missense_Mutation	SNP	T	TCGA-DE-A4MD-01A-11D-A257-08		71493125	83777435	42	1529											
BMP2K	55589	broad.mit.edu	37	chr4	79792115	79792115	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcaacagcaAcagcagcagcagcaacagca	10	14	0	0			TCGA-DE-A69J-01A-21D-A397-08	TCGA-DE-A69J-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7726b10-701c-4898-b3d5-0361bece78ce	8c53d6a3-1198-4ca1-880e-3e04703114a4	g.chr4:79792115A>G	ENST00000335016.5	+	11	1576	c.1410A>G	c.(1408-1410)caA>caG	p.Q470Q	BMP2K_ENST00000502871.1_Silent_p.Q470Q	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	470	Gln/His-rich.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						agcaacagcaacagcagcagc	0.547																																						ENST00000335016.5																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1408-1410)caA>caG		BMP2 inducible kinase																																				SO:0001819	synonymous_variant	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79792115A>G	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1410A>G	4.37:g.79792115A>G						BMP2K_ENST00000502871.1_Silent_p.Q470Q	p.Q470Q	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			11	1576	+			470			Gln/His-rich.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Silent	SNP	ENST00000335016.5	37	c.1410A>G	CCDS47083.1	.	.	.	.	.	.	.	.	.	.	a	1.039	-0.679572	0.03353	.	.	ENSG00000138756	ENST00000502613	.	.	.	1.8	-3.59	0.04583	.	.	.	.	.	T	0.32556	0.0833	.	.	.	0.20074	N	0.999934	.	.	.	.	.	.	T	0.24621	-1.0155	4	.	.	.	.	10.1668	0.42886	0.5016:0.0:0.4984:0.0	.	.	.	.	A	163	.	.	T	+	1	0	BMP2K	80011139	0.469000	0.25846	0.004000	0.12327	0.005000	0.04900	-2.871000	0.00720	-2.682000	0.00408	-2.594000	0.00164	ACA		0.547	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		3	28	0	0	0	1	0	3	28					G	79792115	A	G	79792115	2	3	66	1	0	0	0	0	0	0	0	1	1460	40	2	3		3	BMP2K	4	79792115	Silent	SNP	A	TCGA-DE-A69J-01A-21D-A397-08		79792115	111362161	1	1530											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DE-A69J-01A-21D-A397-08	TCGA-DE-A69J-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7726b10-701c-4898-b3d5-0361bece78ce	8c53d6a3-1198-4ca1-880e-3e04703114a4	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		34	56	0	0	0	1	0	34	56					T	140453136	A	T	140453136	3	4	66	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DE-A69J-01A-21D-A397-08		140453136	18685527	2	1531											
DLC1	10395	broad.mit.edu	37	chr8	13251117	13251117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtggaagatgggaggtccGtggactcagtgtcagaagac	17	6	2	3	rs528243762		TCGA-DE-A69J-01A-21D-A397-08	TCGA-DE-A69J-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7726b10-701c-4898-b3d5-0361bece78ce	8c53d6a3-1198-4ca1-880e-3e04703114a4	g.chr8:13251117G>A	ENST00000276297.4	-	4	1668	c.1259C>T	c.(1258-1260)aCg>aTg	p.T420M	DLC1_ENST00000316609.5_Missense_Mutation_p.T420M|DLC1_ENST00000511869.1_Missense_Mutation_p.T420M	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	420					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TGGGAGGTCCGTGGACTCAGT	0.408													G|||	1	0.000199681	8e-04	0	5008	,	,		17137	0		0	False		,,,				2504	0					ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(1258-1260)aCg>aTg		deleted in liver cancer 1							152	146	148					8																	13251117		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:13251117G>A	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1259C>T	8.37:g.13251117G>A	ENSP00000276297:p.Thr420Met					DLC1_ENST00000316609.5_Missense_Mutation_p.T420M|DLC1_ENST00000511869.1_Missense_Mutation_p.T420M	p.T420M	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			4	1668	-			420					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.1259C>T	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.265473	0.23136	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.14266	3.57;2.52;2.56	4.78	-2.55	0.06288	.	1.511200	0.04057	N	0.305696	T	0.09202	0.0227	L	0.29908	0.895	0.09310	N	1	B;B;B	0.23185	0.029;0.018;0.081	B;B;B	0.15870	0.014;0.007;0.007	T	0.34601	-0.9822	10	0.54805	T	0.06	.	2.5185	0.04674	0.418:0.1155:0.3487:0.1178	.	420;420;420	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	M	420	ENSP00000276297:T420M;ENSP00000321034:T420M;ENSP00000425878:T420M	ENSP00000276297:T420M	T	-	2	0	DLC1	13295488	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.428000	0.21395	-0.405000	0.07599	-0.133000	0.14855	ACG		0.408	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		4	95	0	0	0	1	0	4	95					A	13251117	G	A	13251117	3	1	66	1	0	0	0	0	1	0	0	0	4550	1145	40	1	3472	1	DLC1	8	13251117	Missense_Mutation	SNP	G	TCGA-DE-A69J-01A-21D-A397-08		13251117	133112905	3	1532											
CNGB3	54714	broad.mit.edu	37	chr8	87641267	87641268	+	Frame_Shift_Ins	INS	-	-	C													tccatgcaggcgcggaagtaINSgttctgattggctgtagctg							TCGA-DE-A69J-01A-21D-A397-08	TCGA-DE-A69J-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7726b10-701c-4898-b3d5-0361bece78ce	8c53d6a3-1198-4ca1-880e-3e04703114a4	g.chr8:87641267_87641268insC	ENST00000320005.5	-	12	1406_1407	c.1359_1360insG	c.(1357-1362)aactacfs	p.Y454fs		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	454					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GCGCGGAAGTAGTTCTGATTGG	0.426																																						ENST00000320005.5																			0				NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						c.(1357-1362)aaacttfs		cyclic nucleotide gated channel beta 3																																				SO:0001589	frameshift_variant	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87641267_87641268insC	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2153	protein-coding gene	gene with protein product		605080	"achromatopsia (rod monochromacy) 3", "achromatopsia (rod monochromacy) 1"	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.1359_1360insG	8.37:g.87641267_87641268insC	ENSP00000316605:p.Tyr454fs						p.L454fs	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN			12	1406_1407	-			454					C9JA51|Q9NRE9	Frame_Shift_Ins	INS	ENST00000320005.5	37	c.1359_1360insG	CCDS6244.1																																																																																				0.426	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		51	118						51	118	---	---	---	---	C	87641268	-	C	87641267	7	5	66	1	0	1	1	0	0	0	0	0	3601	420	15	0	1097	0	CNGB3	8	87641267	Frame_Shift_Ins	INS	-	TCGA-DE-A69J-01A-21D-A397-08	74390150	87641267	58722755	4	1533											
RAB3IP	117177	broad.mit.edu	37	chr12	70178581	70178581	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaattggaagaactcacaGctagtctatttgaggttggt	12	5	2	2			TCGA-DE-A69J-01A-21D-A397-08	TCGA-DE-A69J-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7726b10-701c-4898-b3d5-0361bece78ce	8c53d6a3-1198-4ca1-880e-3e04703114a4	g.chr12:70178581G>A	ENST00000247833.7	+	4	968	c.592G>A	c.(592-594)Gct>Act	p.A198T	RAB3IP_ENST00000553099.1_5'UTR|RAB3IP_ENST00000483530.2_Missense_Mutation_p.A198T|RAB3IP_ENST00000362025.5_Missense_Mutation_p.A214T|RAB3IP_ENST00000550536.1_Missense_Mutation_p.A214T|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000378815.6_Missense_Mutation_p.A198T|RAB3IP_ENST00000551641.1_5'UTR					RAB3A interacting protein											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			AGAACTCACAGCTAGTCTATT	0.338																																						ENST00000550536.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(640-642)Gct>Act		RAB3A interacting protein							119	112	114					12																	70178581		2203	4300	6503	SO:0001583	missense	117177				cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding	g.chr12:70178581G>A		CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328			16508	protein-coding gene	gene with protein product	"rabin3"	608686					Standard	NM_175623		Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000247833.7:c.592G>A	12.37:g.70178581G>A	ENSP00000247833:p.Ala198Thr					RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000483530.2_Missense_Mutation_p.A198T|RAB3IP_ENST00000378815.6_Missense_Mutation_p.A198T|RAB3IP_ENST00000362025.5_Missense_Mutation_p.A214T|RAB3IP_ENST00000553099.1_5'UTR|RAB3IP_ENST00000247833.7_Missense_Mutation_p.A198T|RAB3IP_ENST00000551641.1_5'UTR	p.A214T	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)		4	1097	+	Esophageal squamous(21;0.187)		214						Missense_Mutation	SNP	ENST00000247833.7	37	c.640G>A	CCDS8995.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.206515|5.206515	0.95033|0.95033	.|.	.|.	ENSG00000127328|ENSG00000127328	ENST00000247833;ENST00000378815;ENST00000483530;ENST00000550536;ENST00000362025;ENST00000547055|ENST00000550647	T;T;T;T;T;T|.	0.54675|.	0.56;0.96;0.56;0.56;0.56;0.56|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73690|0.73690	0.3619|0.3619	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;0.997;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;0.996;1.0;0.998|.	T|T	0.68911|0.68911	-0.5284|-0.5284	10|5	0.66056|.	D|.	0.02|.	.|.	20.1935|20.1935	0.98237|0.98237	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	214;214;198;198|.	Q96QF0-4;Q96QF0;Q96QF0-3;Q96QF0-7|.	.;RAB3I_HUMAN;.;.|.	T|N	198;198;198;214;214;75|87	ENSP00000247833:A198T;ENSP00000368092:A198T;ENSP00000419216:A198T;ENSP00000447300:A214T;ENSP00000355381:A214T;ENSP00000448688:A75T|.	ENSP00000247833:A198T|.	A|S	+|+	1|2	0|0	RAB3IP|RAB3IP	68464848|68464848	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.976000|8.976000	0.93442|0.93442	2.779000|2.779000	0.95612|0.95612	0.591000|0.591000	0.81541|0.81541	GCT|AGC		0.338	RAB3IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280671.2	NM_022456		3	46	0	0	0	1	0	3	46					A	70178581	G	A	70178581	3	1	66	1	0	0	0	0	1	0	0	0	12938	971	34	2	654	2	RAB3IP	12	70178581	Missense_Mutation	SNP	G	TCGA-DE-A69J-01A-21D-A397-08		70178581	63673314	5	1534											
ASPG	374569	broad.mit.edu	37	chr14	104552174	104552174	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggcggcaccattggcatgCggagtgagctcggcggtgag	18	11	0	2			TCGA-DE-A69J-01A-21D-A397-08	TCGA-DE-A69J-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7726b10-701c-4898-b3d5-0361bece78ce	8c53d6a3-1198-4ca1-880e-3e04703114a4	g.chr14:104552174C>T	ENST00000551177.1	+	1	159	c.67C>T	c.(67-69)Cgg>Tgg	p.R23W	ASPG_ENST00000455920.2_Missense_Mutation_p.R23W|ASPG_ENST00000546892.2_Missense_Mutation_p.R23W	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase	23	Asparaginase/glutaminase. {ECO:0000255|PROSITE-ProRule:PRU01068}.				asparagine metabolic process (GO:0006528)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)		1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|asparaginase activity (GO:0004067)|lysophospholipase activity (GO:0004622)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						CATTGGCATGCGGAGTGAGCT	0.751																																						ENST00000551177.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						c.(67-69)Cgg>Tgg		asparaginase homolog (S. cerevisiae)							13	15	15					14																	104552174		1767	3880	5647	SO:0001583	missense	374569				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity	g.chr14:104552174C>T		CCDS45170.1, CCDS45170.2	14q32.33	2014-03-14	2014-03-14	2008-11-06	ENSG00000166183	ENSG00000166183	3.1.1.5, 3.5.1.1	"Ankyrin repeat domain containing"	20123	protein-coding gene	gene with protein product	"60-kDa-lysophospholipase"		"chromosome 14 open reading frame 76", "asparaginase homolog (S. cerevisiae)"	C14orf76			Standard	NM_001080464		Approved		uc001yoq.2	Q86U10		ENST00000551177.1:c.67C>T	14.37:g.104552174C>T	ENSP00000450040:p.Arg23Trp					ASPG_ENST00000546892.2_Missense_Mutation_p.R23W|ASPG_ENST00000455920.2_Missense_Mutation_p.R23W	p.R23W	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN			1	159	+			23					B9EGQ2|Q8IV80	Missense_Mutation	SNP	ENST00000551177.1	37	c.67C>T	CCDS45170.2	.	.	.	.	.	.	.	.	.	.	C	11.83	1.756231	0.31137	.	.	ENSG00000166183	ENST00000551177;ENST00000546892;ENST00000455920	T;T;T	0.23754	1.89;1.89;1.89	3.74	2.84	0.33178	.	.	.	.	.	T	0.46073	0.1374	M	0.86178	2.8	0.35434	D	0.794279	D;D;D	0.76494	0.994;0.999;0.998	P;P;P	0.57776	0.827;0.825;0.731	T	0.61093	-0.7132	9	0.72032	D	0.01	.	9.0776	0.36531	0.0:0.7751:0.2249:0.0	.	23;23;23	G3V1Y8;Q86U10;Q86U10-3	.;LPP60_HUMAN;.	W	23	ENSP00000450040:R23W;ENSP00000448911:R23W;ENSP00000389003:R23W	ENSP00000389003:R23W	R	+	1	2	ASPG	103621927	0.956000	0.32656	0.993000	0.49108	0.154000	0.21943	0.368000	0.20399	0.771000	0.33359	-0.264000	0.10439	CGG		0.751	ASPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407005.1	NM_001080464		3	46	0	0	0	1	0	3	46					T	104552174	C	T	104552174	3	4	66	1	0	0	0	0	1	0	0	0	1052	759	27	1	69	1	ASPG	14	104552174	Missense_Mutation	SNP	C	TCGA-DE-A69J-01A-21D-A397-08		104552174	2797366	6	1535											
RBBP6	5930	broad.mit.edu	37	chr16	24567752	24567752	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaacactggaaaatatgcaAtaccaactatagatgcgtaa	6	9	0	1			TCGA-DE-A69J-01A-21D-A397-08	TCGA-DE-A69J-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7726b10-701c-4898-b3d5-0361bece78ce	8c53d6a3-1198-4ca1-880e-3e04703114a4	g.chr16:24567752A>G	ENST00000319715.4	+	7	1090	c.658A>G	c.(658-660)Ata>Gta	p.I220V	RBBP6_ENST00000381039.3_Missense_Mutation_p.I220V|RBBP6_ENST00000348022.2_Missense_Mutation_p.I220V	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	220					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AAAATATGCAATACCAACTAT	0.393																																						ENST00000319715.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(658-660)Ata>Gta		retinoblastoma binding protein 6							107	97	100					16																	24567752		2197	4300	6497	SO:0001583	missense	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24567752A>G		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.658A>G	16.37:g.24567752A>G	ENSP00000317872:p.Ile220Val					RBBP6_ENST00000348022.2_Missense_Mutation_p.I220V|RBBP6_ENST00000381039.3_Missense_Mutation_p.I220V	p.I220V	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	7	1090	+			220					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	c.658A>G	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	A	12.81	2.048129	0.36181	.	.	ENSG00000122257	ENST00000381039;ENST00000319715;ENST00000348022	T;T;T	0.15834	2.39;2.58;2.65	5.68	5.68	0.88126	.	0.050484	0.85682	D	0.000000	T	0.17831	0.0428	L	0.27053	0.805	0.49687	D	0.999814	B;P;P	0.50710	0.111;0.938;0.898	B;P;P	0.51550	0.04;0.673;0.56	T	0.01570	-1.1322	10	0.05620	T	0.96	-23.6851	16.2237	0.82280	1.0:0.0:0.0:0.0	.	220;220;220	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9	.;.;RBBP6_HUMAN	V	220	ENSP00000370427:I220V;ENSP00000317872:I220V;ENSP00000316291:I220V	ENSP00000317872:I220V	I	+	1	0	RBBP6	24475253	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.269000	0.65542	2.289000	0.77006	0.482000	0.46254	ATA		0.393	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		18	42	0	0	0	1	0	18	42					G	24567752	A	G	24567752	3	3	66	1	0	0	0	0	1	0	0	0	13103	101	4	3	738	3	RBBP6	16	24567752	Missense_Mutation	SNP	A	TCGA-DE-A69J-01A-21D-A397-08		24567752	65787001	7	1536											
PKD1L2	114780	broad.mit.edu	37	chr16	81145867	81145867	+	RNA	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gccgtgatcatgttcattttGggattcaacctgagcagatg	11	8	3	3			TCGA-DE-A69J-01A-21D-A397-08	TCGA-DE-A69J-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7726b10-701c-4898-b3d5-0361bece78ce	8c53d6a3-1198-4ca1-880e-3e04703114a4	g.chr16:81145867G>C	ENST00000534142.1	-	0	1272				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGTTCATTTTGGGATTCAACC	0.542																																						ENST00000525539.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2							148	140	142					16																	81145867		2036	4185	6221			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81145867G>C	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81145867G>C						PKD1L2_ENST00000534142.1_RNA|PKD1L2_ENST00000533478.1_RNA		NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN			0	6883	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	ENST00000534142.1	37																																																																																						0.542	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1			6	137	0	0	0	1	0	6	137					C	81145867	G	C	81145867	1	2	66	0	1	0	0	0	0	0	0	0	11965	1335	47	4		4	PKD1L2	16	81145867	RNA	SNP	G	TCGA-DE-A69J-01A-21D-A397-08	56578115	81145867	9208886	8	1537											
TEX14	56155	broad.mit.edu	37	chr17	56663324	56663324	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggctcctaatggggggctGcagcagggcgtcgggctcat	18	10	1	0	rs201354534		TCGA-DE-A69J-01A-21D-A397-08	TCGA-DE-A69J-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7726b10-701c-4898-b3d5-0361bece78ce	8c53d6a3-1198-4ca1-880e-3e04703114a4	g.chr17:56663324G>A	ENST00000240361.8	-	18	3011	c.2926C>T	c.(2926-2928)Cag>Tag	p.Q976*	TEX14_ENST00000349033.5_Nonsense_Mutation_p.Q970*|TEX14_ENST00000389934.3_Nonsense_Mutation_p.Q970*			Q8IWB6	TEX14_HUMAN	testis expressed 14	976					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATGGGGGGCTGCAGCAGGGCG	0.507																																						ENST00000389934.3																			0				breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81						c.(2908-2910)Cag>Tag		testis expressed 14							133	135	135					17																	56663324		2203	4300	6503	SO:0001587	stop_gained	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56663324G>A	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"cancer/testis antigen 113"	605792	"testis expressed sequence 14"			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.2926C>T	17.37:g.56663324G>A	ENSP00000240361:p.Gln976*					TEX14_ENST00000240361.8_Nonsense_Mutation_p.Q976*|TEX14_ENST00000349033.5_Nonsense_Mutation_p.Q970*	p.Q970*	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN			18	3025	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		976					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Nonsense_Mutation	SNP	ENST00000240361.8	37	c.2908C>T	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	G	36	5.870593	0.97049	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	.	.	.	5.38	4.4	0.53042	.	0.600804	0.16801	N	0.198960	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-2.0065	11.4507	0.50151	0.0:0.0:0.8198:0.1802	.	.	.	.	X	976;970;970	.	ENSP00000240361:Q976X	Q	-	1	0	TEX14	54018323	0.031000	0.19500	0.008000	0.14137	0.008000	0.06430	2.375000	0.44283	1.255000	0.44051	-0.314000	0.08810	CAG		0.507	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			20	112	0	0	0	1	0	20	112					A	56663324	G	A	56663324	4	1	66	1	0	0	0	0	0	1	0	0	15775	1328	46	2	1631	2	TEX14	17	56663324	Nonsense_Mutation	SNP	G	TCGA-DE-A69J-01A-21D-A397-08		56663324	24531886	9	1538											
NFIX	4784	broad.mit.edu	37	chr19	13184731	13184731	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcccagctcctgttgcaAcagcatcagggcccaacttc	7	16	2	0			TCGA-DE-A69J-01A-21D-A397-08	TCGA-DE-A69J-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7726b10-701c-4898-b3d5-0361bece78ce	8c53d6a3-1198-4ca1-880e-3e04703114a4	g.chr19:13184731A>G	ENST00000592199.1	+	5	709	c.709A>G	c.(709-711)Aca>Gca	p.T237A	NFIX_ENST00000397661.2_Missense_Mutation_p.T237A|NFIX_ENST00000585575.1_Missense_Mutation_p.T229A|NFIX_ENST00000358552.3_Missense_Mutation_p.T236A|NFIX_ENST00000588228.1_Missense_Mutation_p.T190A|NFIX_ENST00000588680.1_3'UTR|NFIX_ENST00000587760.1_Missense_Mutation_p.T229A|AC007787.2_ENST00000588095.1_RNA|NFIX_ENST00000360105.4_Missense_Mutation_p.T240A|NFIX_ENST00000587260.1_Missense_Mutation_p.T236A			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	237					astrocyte differentiation (GO:0048708)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell layer development (GO:0021680)|DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			TCCTGTTGCAACAGCATCAGG	0.597																																						ENST00000358552.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11						c.(706-708)Aca>Gca		nuclear factor I/X (CCAAT-binding transcription factor)							76	84	81					19																	13184731		1966	4138	6104	SO:0001583	missense	4784				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:13184731A>G	U18761	CCDS45996.1, CCDS59359.1	19p13.3	2008-02-05				ENSG00000008441			7788	protein-coding gene	gene with protein product		164005				8340106, 7590749	Standard	NM_001271043		Approved	NF1A	uc010xmx.2	Q14938		ENST00000592199.1:c.709A>G	19.37:g.13184731A>G	ENSP00000467512:p.Thr237Ala					NFIX_ENST00000588680.1_3'UTR|NFIX_ENST00000587760.1_Missense_Mutation_p.T229A|NFIX_ENST00000397661.2_Missense_Mutation_p.T237A|NFIX_ENST00000587260.1_Missense_Mutation_p.T236A|NFIX_ENST00000588228.1_Missense_Mutation_p.T190A|NFIX_ENST00000360105.4_Missense_Mutation_p.T240A|NFIX_ENST00000585575.1_Missense_Mutation_p.T229A|NFIX_ENST00000592199.1_Missense_Mutation_p.T237A	p.T236A			Q14938	NFIX_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)		4	706	+			237					B4DM25|O60413|Q0VG09|Q12859|Q13050|Q13052|Q5U094|Q9UPH1|Q9Y6R8	Missense_Mutation	SNP	ENST00000592199.1	37	c.706A>G		.	.	.	.	.	.	.	.	.	.	A	10.79	1.449144	0.26074	.	.	ENSG00000008441	ENST00000397661;ENST00000360105;ENST00000264825;ENST00000358552	T;T	0.39229	1.09;1.09	4.71	4.71	0.59529	.	0.063063	0.64402	D	0.000010	T	0.41396	0.1157	L	0.48986	1.54	0.42758	D	0.993798	B;B;B;P;B	0.36354	0.406;0.091;0.073;0.549;0.091	B;B;B;B;B	0.41946	0.341;0.079;0.053;0.371;0.079	T	0.22312	-1.0220	10	0.20519	T	0.43	.	13.3009	0.60324	1.0:0.0:0.0:0.0	.	245;236;240;237;237	B4DHW2;Q14938-5;F8W8H9;Q14938;Q14938-3	.;.;.;NFIX_HUMAN;.	A	237;237;240;236	ENSP00000380781:T237A;ENSP00000351354:T236A	ENSP00000264825:T240A	T	+	1	0	NFIX	13045731	1.000000	0.71417	0.807000	0.32361	0.930000	0.56654	5.250000	0.65432	1.989000	0.58080	0.533000	0.62120	ACA		0.597	NFIX-013	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000452763.1	NM_002501		3	36	0	0	0	1	0	3	36					G	13184731	A	G	13184731	3	3	66	1	0	0	0	0	1	0	0	0	10374	43	2	3	727	3	NFIX	19	13184731	Missense_Mutation	SNP	A	TCGA-DE-A69J-01A-21D-A397-08		13184731	45944252	10	1539											
ZNF543	125919	broad.mit.edu	37	chr19	57835089	57835089	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtggctgtgacattcaccCaggaggagtggggacagttg	16	7	1	1			TCGA-DE-A69J-01A-21D-A397-08	TCGA-DE-A69J-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7726b10-701c-4898-b3d5-0361bece78ce	8c53d6a3-1198-4ca1-880e-3e04703114a4	g.chr19:57835089C>T	ENST00000321545.4	+	2	403	c.58C>T	c.(58-60)Cag>Tag	p.Q20*		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	20	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)			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		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;0.0257)		GACATTCACCCAGGAGGAGTG	0.498																																						ENST00000321545.4																			0				breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28						c.(58-60)Cag>Tag		zinc finger protein 543							170	148	156					19																	57835089		2203	4300	6503	SO:0001587	stop_gained	125919				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57835089C>T	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"Zinc fingers, C2H2-type", "-"	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.58C>T	19.37:g.57835089C>T	ENSP00000322545:p.Gln20*						p.Q20*	NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	2	403	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	20			KRAB.		Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Nonsense_Mutation	SNP	ENST00000321545.4	37	c.58C>T	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854843	0.91355	.	.	ENSG00000178229	ENST00000321545	.	.	.	1.51	0.307	0.15811	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	3.9324	0.09292	0.0:0.5774:0.2557:0.1669	.	.	.	.	X	20	.	ENSP00000322545:Q20X	Q	+	1	0	ZNF543	62526901	0.000000	0.05858	0.047000	0.18901	0.678000	0.39670	-0.490000	0.06482	0.142000	0.18901	0.467000	0.42956	CAG		0.498	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		64	86	0	0	0	1	0	64	86					T	57835089	C	T	57835089	4	4	66	1	0	0	0	0	0	1	0	0	17973	595	21	2	64	2	ZNF543	19	57835089	Nonsense_Mutation	SNP	C	TCGA-DE-A69J-01A-21D-A397-08	44650358	57835089	1293894	11	1540											
DUSP27	92235	broad.mit.edu	37	chr1	167096881	167096881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacctaaaggaacttggccGgaaggagaaggagatgcaga	16	6	0	3	rs370041575		TCGA-DE-A69K-01A-11D-A397-08	TCGA-DE-A69K-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c76f3f11-d2e6-4f77-9928-60ee989f34bd	f2f437ba-f2c0-48c9-a7d9-4840c7537311	g.chr1:167096881G>A	ENST00000361200.2	+	6	2679	c.2513G>A	c.(2512-2514)cGg>cAg	p.R838Q	DUSP27_ENST00000271385.5_Missense_Mutation_p.R838Q|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.R838Q			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	838					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						GAACTTGGCCGGAAGGAGAAG	0.517																																						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.(2512-2514)cGg>cAg		dual specificity phosphatase 27 (putative)		G	GLN/ARG	0,4406		0,0,2203	71	67	69		2513	1.0	1.0	1		69	1,8599	1.2+/-3.3	0,1,4299	no	missense	DUSP27	NM_001080426.1	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	838/1159	167096881	1,13005	2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167096881G>A	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.2513G>A	1.37:g.167096881G>A	ENSP00000354483:p.Arg838Gln					DUSP27_ENST00000443333.1_Missense_Mutation_p.R838Q|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.R838Q	p.R838Q			Q5VZP5	DUS27_HUMAN			6	2679	+			838					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.2513G>A	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	0.487	-0.877041	0.02550	0.0	1.16E-4	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03330	3.97;3.97;3.97	5.36	1.02	0.19986	.	0.457271	0.19588	N	0.110696	T	0.01061	0.0035	L	0.32530	0.975	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.46261	-0.9204	10	0.23891	T	0.37	-19.4177	11.5693	0.50824	0.3512:0.0:0.6488:0.0	.	838	Q5VZP5	DUS27_HUMAN	Q	838	ENSP00000354483:R838Q;ENSP00000271385:R838Q;ENSP00000404874:R838Q	ENSP00000271385:R838Q	R	+	2	0	DUSP27	165363505	0.993000	0.37304	0.989000	0.46669	0.002000	0.02628	1.894000	0.39768	0.367000	0.24454	-0.472000	0.04984	CGG		0.517	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		5	59	0	0	0	1	0	5	59					A	167096881	G	A	167096881	3	1	67	1	0	0	0	0	1	0	0	0	4824	1116	39	1	2531	1	DUSP27	1	167096881	Missense_Mutation	SNP	G	TCGA-DE-A69K-01A-11D-A397-08		167096881	82153740	1	1541											
MYO10	4651	broad.mit.edu	37	chr5	16702681	16702682	+	Frame_Shift_Ins	INS	-	-	CT													cggagctcggcttctcttcgINSctctctctctctttctctaa							TCGA-DE-A69K-01A-11D-A397-08	TCGA-DE-A69K-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c76f3f11-d2e6-4f77-9928-60ee989f34bd	f2f437ba-f2c0-48c9-a7d9-4840c7537311	g.chr5:16702681_16702682insCT	ENST00000513610.1	-	24	2980_2981	c.2526_2527insAG	c.(2524-2529)gagcgafs	p.R843fs	MYO10_ENST00000427430.2_Frame_Shift_Ins_p.R200fs|MYO10_ENST00000512061.1_5'Flank|MYO10_ENST00000274203.9_Frame_Shift_Ins_p.R200fs|MYO10_ENST00000505695.1_Frame_Shift_Ins_p.R182fs|MYO10_ENST00000515803.1_Frame_Shift_Ins_p.R182fs	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	843					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GCTTCTCTTCGCTCTCTCTCTC	0.426																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(2524-2529)gagaagfs		myosin X																																				SO:0001589	frameshift_variant	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16702681_16702682insCT	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.2525_2526dupAG	5.37:g.16702690_16702691dupCT	ENSP00000421280:p.Arg843fs					MYO10_ENST00000427430.2_Frame_Shift_Ins_p.K200fs|MYO10_ENST00000515803.1_Frame_Shift_Ins_p.K182fs|MYO10_ENST00000505695.1_Frame_Shift_Ins_p.K182fs|MYO10_ENST00000274203.9_Frame_Shift_Ins_p.K200fs	p.K843fs	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			24	2980_2981	-			843					A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Frame_Shift_Ins	INS	ENST00000513610.1	37	c.2526_2527insAG	CCDS54834.1																																																																																				0.426	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		2	4						2	4	---	---	---	---	CT	16702682	-	CT	16702681	7	5	67	1	0	1	1	0	0	0	0	0	10062	1095	38	0	3721	0	MYO10	5	16702681	Frame_Shift_Ins	INS	-	TCGA-DE-A69K-01A-11D-A397-08		16702681	164212579	2	1542											
SV2C	22987	broad.mit.edu	37	chr5	75594619	75594619	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttttctgtgtgttgggcagAttcataggggtcaagttcaa	12	5	4	1			TCGA-DE-A69K-01A-11D-A397-08	TCGA-DE-A69K-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c76f3f11-d2e6-4f77-9928-60ee989f34bd	f2f437ba-f2c0-48c9-a7d9-4840c7537311	g.chr5:75594619A>T	ENST00000502798.2	+	10	1945	c.1503A>T	c.(1501-1503)agA>agT	p.R501S	RP11-466P24.6_ENST00000502589.1_RNA|SV2C_ENST00000322285.7_Splice_Site_p.R501S	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	501					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TGTTGGGCAGATTCATAGGGG	0.378																																						ENST00000502798.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.e10-1		synaptic vesicle glycoprotein 2C							202	182	188					5																	75594619		1850	4086	5936	SO:0001630	splice_region_variant	22987				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr5:75594619A>T	AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.1503-1A>T	5.37:g.75594619A>T						SV2C_ENST00000322285.7_Splice_Site_p.R501_splice|RP11-466P24.6_ENST00000502589.1_RNA	p.R501_splice	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)	10	1945	+		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)	501					Q496K1|Q9UPU8	Splice_Site	SNP	ENST00000502798.2	37	c.1502_splice	CCDS43331.1	.	.	.	.	.	.	.	.	.	.	A	13.90	2.374309	0.42105	.	.	ENSG00000122012	ENST00000502798;ENST00000322285	T;T	0.39787	1.06;1.06	4.87	-0.423	0.12325	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.044969	0.85682	D	0.000000	T	0.38241	0.1033	M	0.66939	2.045	0.51233	D	0.999912	B	0.32382	0.368	B	0.36092	0.217	T	0.14559	-1.0468	9	.	.	.	.	9.5129	0.39087	0.4502:0.0:0.5498:0.0	.	501	Q496J9	SV2C_HUMAN	S	501	ENSP00000423541:R501S;ENSP00000316983:R501S	.	R	+	3	2	SV2C	75630375	1.000000	0.71417	0.884000	0.34674	0.424000	0.31475	0.801000	0.27055	-0.000000	0.14550	0.528000	0.53228	AGA		0.378	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4		Missense_Mutation	40	67	0	0	0	1	0	40	67					T	75594619	A	T	75594619	5	4	67	1	0	0	0	0	0	0	1	0	15416	347	12	5	1537	5	SV2C	5	75594619	Splice_Site	SNP	A	TCGA-DE-A69K-01A-11D-A397-08	58891938	75594619	105320641	3	1543											
CNR1	1268	broad.mit.edu	37	chr6	88854552	88854552	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtaggaaggcctgcagcGgaggctgcgggagtggagga	22	6	0	0			TCGA-DE-A69K-01A-11D-A397-08	TCGA-DE-A69K-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c76f3f11-d2e6-4f77-9928-60ee989f34bd	f2f437ba-f2c0-48c9-a7d9-4840c7537311	g.chr6:88854552G>A	ENST00000537554.1	-	2	4004	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C	CNR1_ENST00000369501.2_Missense_Mutation_p.R148C|CNR1_ENST00000549716.1_Missense_Mutation_p.R87C|CNR1_ENST00000428600.2_Missense_Mutation_p.R148C|CNR1_ENST00000369499.2_Missense_Mutation_p.R148C|CNR1_ENST00000468898.1_Missense_Mutation_p.R115C|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000535130.1_Missense_Mutation_p.R148C|CNR1_ENST00000549890.1_Missense_Mutation_p.R148C	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	148					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GGCCTGCAGCGGAGGCTGCGG	0.607																																						ENST00000537554.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37						c.(442-444)Cgc>Tgc		cannabinoid receptor 1 (brain)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						38	36	37					6																	88854552		2203	4300	6503	SO:0001583	missense	0				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88854552G>A	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"GPCR / Class A : Cannabinoid receptors"	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.442C>T	6.37:g.88854552G>A	ENSP00000441046:p.Arg148Cys					CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369501.2_Missense_Mutation_p.R148C|CNR1_ENST00000428600.2_Missense_Mutation_p.R148C|CNR1_ENST00000369499.2_Missense_Mutation_p.R148C|CNR1_ENST00000535130.1_Missense_Mutation_p.R148C|CNR1_ENST00000549890.1_Missense_Mutation_p.R148C|CNR1_ENST00000549716.1_Missense_Mutation_p.R87C|CNR1_ENST00000468898.1_Missense_Mutation_p.R115C	p.R148C	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	4004	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	148					B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	ENST00000537554.1	37	c.442C>T	CCDS5015.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631419	0.67015	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000549716	T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.77	5.77	0.91146	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.65903	0.2736	M	0.90198	3.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.72636	-0.4233	10	0.87932	D	0	.	14.7986	0.69898	0.0:0.0:0.8559:0.1441	.	115;148	P21554-3;P21554	.;CNR1_HUMAN	C	148;148;148;148;148;115;148;87	ENSP00000358513:R148C;ENSP00000442689:R148C;ENSP00000441046:R148C;ENSP00000358511:R148C;ENSP00000446819:R148C;ENSP00000420188:R115C;ENSP00000412192:R148C;ENSP00000449549:R87C	ENSP00000358511:R148C	R	-	1	0	CNR1	88911271	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	6.608000	0.74168	2.732000	0.93576	0.563000	0.77884	CGC		0.607	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			14	19	0	0	0	1	0	14	19					A	88854552	G	A	88854552	3	1	67	1	0	0	0	0	1	0	0	0	3631	1116	39	1	980	1	CNR1	6	88854552	Missense_Mutation	SNP	G	TCGA-DE-A69K-01A-11D-A397-08		88854552	82260515	4	1544											
CUX1	1523	broad.mit.edu	37	chr7	101758552	101758555	+	Splice_Site	DEL	AAGT	AAGT	-													acgatgaagaaactactgcaAagtaagtctctctgcttggc							TCGA-DE-A69K-01A-11D-A397-08	TCGA-DE-A69K-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c76f3f11-d2e6-4f77-9928-60ee989f34bd	f2f437ba-f2c0-48c9-a7d9-4840c7537311	g.chr7:101758552_101758555delAAGT	ENST00000292535.7	+	8	711_712	c.673_674delAAGT	c.(673-675)aag>g	p.K225fs	CUX1_ENST00000546411.2_Splice_Site_p.K225fs|CUX1_ENST00000550008.2_Splice_Site_p.K225fs|CUX1_ENST00000547394.2_Splice_Site_p.K220fs|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000425244.2_Splice_Site_p.K190fs|CUX1_ENST00000556210.1_Splice_Site_p.K225fs|CUX1_ENST00000292538.4_Splice_Site_p.K236fs|CUX1_ENST00000393824.3_Splice_Site_p.K199fs|CUX1_ENST00000437600.4_Splice_Site_p.K236fs|CUX1_ENST00000360264.3_Splice_Site_p.K236fs|CUX1_ENST00000549414.2_Splice_Site_p.K225fs	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	225					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AACTACTGCAAAGTAAGTCTCTCT	0.412																																						ENST00000360264.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.e8+1		cut-like homeobox 1																																				SO:0001630	splice_region_variant	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101758552_101758555delAAGT	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.674+1AAGT>-	7.37:g.101758556_101758559delAAGT						CUX1_ENST00000550008.2_Splice_Site_p.225_splice|CUX1_ENST00000549414.2_Splice_Site_p.225_splice|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000546411.2_Splice_Site_p.225_splice|CUX1_ENST00000292535.7_Splice_Site_p.225_splice|CUX1_ENST00000437600.4_Splice_Site_p.236_splice|CUX1_ENST00000292538.4_Splice_Site_p.236_splice|CUX1_ENST00000556210.1_Splice_Site_p.225_splice|CUX1_ENST00000425244.2_Splice_Site_p.190_splice|CUX1_ENST00000547394.2_Splice_Site_p.220_splice|CUX1_ENST00000393824.3_Splice_Site_p.199_splice	p.236_splice	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			8	726_727	+			225					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Splice_Site	DEL	ENST00000292535.7	37	c.707_splice	CCDS5721.1																																																																																				0.412	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913	Frame_Shift_Del	22	42						22	42	---	---	---	---	-	101758555	AAGT	-	101758552	8	5	67	1	0	1	0	1	0	0	1	0	4064	28	1	0	770	0	CUX1	7	101758552	Splice_Site	DEL	AAGT	TCGA-DE-A69K-01A-11D-A397-08		101758552	57380111	5	1545											
PAXIP1	22976	broad.mit.edu	37	chr7	154754101	154754101	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggctcggtgcggcggtaccAttttcttcttctttaagact	11	10	3	1			TCGA-DE-A69K-01A-11D-A397-08	TCGA-DE-A69K-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c76f3f11-d2e6-4f77-9928-60ee989f34bd	f2f437ba-f2c0-48c9-a7d9-4840c7537311	g.chr7:154754101A>C	ENST00000404141.1	-	10	2211	c.2057T>G	c.(2056-2058)aTg>aGg	p.M686R	PAXIP1_ENST00000397192.1_Missense_Mutation_p.M686R|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	686	BRCT 3. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Interaction with TP53BP1.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		CGGCGGTACCATTTTCTTCTT	0.438																																						ENST00000404141.1																			0				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33						c.(2056-2058)aTg>aGg		PAX interacting (with transcription-activation domain) protein 1							156	157	157					7																	154754101		1899	4098	5997	SO:0001583	missense	22976				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix		g.chr7:154754101A>C	U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"PAX transcription activation domain interacting protein 1 like"	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.2057T>G	7.37:g.154754101A>C	ENSP00000384048:p.Met686Arg					PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.M686R	p.M686R			Q6ZW49	PAXI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)	10	2211	-	all_neural(206;0.119)	all_hematologic(28;0.0592)	686			BRCT 3.|Interaction with TP53BP1.		O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP	ENST00000404141.1	37	c.2057T>G	CCDS47753.1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.578594	0.46006	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000357094;ENST00000323199	T;T	0.56776	0.44;0.44	4.91	3.73	0.42828	BRCT (2);	0.168717	0.38897	U	0.001521	T	0.61677	0.2366	M	0.62723	1.935	0.44018	D	0.996732	D;D;B	0.69078	0.997;0.981;0.361	P;P;B	0.56088	0.791;0.642;0.08	T	0.64360	-0.6426	10	0.87932	D	0	-27.1346	11.1919	0.48690	0.8621:0.0:0.0:0.1379	.	639;652;686	B4DEQ6;Q6ZW49-1;Q6ZW49	.;.;PAXI1_HUMAN	R	686;686;510;639	ENSP00000384048:M686R;ENSP00000380376:M686R	ENSP00000319149:M639R	M	-	2	0	PAXIP1	154385034	1.000000	0.71417	0.895000	0.35142	0.695000	0.40330	8.560000	0.90712	0.802000	0.34089	0.383000	0.25322	ATG		0.438	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349		14	24	0	0	0	1	0	14	24					C	154754101	A	C	154754101	3	2	67	1	0	0	0	0	1	0	0	0	11487	217	8	5	1200	5	PAXIP1	7	154754101	Missense_Mutation	SNP	A	TCGA-DE-A69K-01A-11D-A397-08	52995549	154754101	4384562	6	1546											
KANK1	23189	broad.mit.edu	37	chr9	734778	734778	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgaaaagatgttgtctgcAtgcaacttactgaaaaatac	8	6	1	3			TCGA-DE-A69K-01A-11D-A397-08	TCGA-DE-A69K-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c76f3f11-d2e6-4f77-9928-60ee989f34bd	f2f437ba-f2c0-48c9-a7d9-4840c7537311	g.chr9:734778A>G	ENST00000382303.1	+	11	3928	c.3276A>G	c.(3274-3276)gcA>gcG	p.A1092A	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Silent_p.A1092A|KANK1_ENST00000382293.3_Silent_p.A934A	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1092					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TGTTGTCTGCATGCAACTTAC	0.363																																						ENST00000382303.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(3274-3276)gcA>gcG		KN motif and ankyrin repeat domains 1							86	80	82					9																	734778		2203	4300	6503	SO:0001819	synonymous_variant	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:734778A>G	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	19309	protein-coding gene	gene with protein product		607704	"ankyrin repeat domain 15"	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3276A>G	9.37:g.734778A>G						KANK1_ENST00000382293.3_Silent_p.A934A|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Silent_p.A1092A	p.A1092A	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	11	3928	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	1092					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	ENST00000382303.1	37	c.3276A>G	CCDS34976.1																																																																																				0.363	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		12	24	0	0	0	1	0	12	24					G	734778	A	G	734778	2	3	67	1	0	0	0	0	0	0	0	1	7976	204	8	3		3	KANK1	9	734778	Silent	SNP	A	TCGA-DE-A69K-01A-11D-A397-08		734778	140478653	7	1547											
HAUS6	54801	broad.mit.edu	37	chr9	19093294	19093294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgaggaaagctacttccaCattcaccctatgaagaaaag	7	10	1	3			TCGA-DE-A69K-01A-11D-A397-08	TCGA-DE-A69K-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c76f3f11-d2e6-4f77-9928-60ee989f34bd	f2f437ba-f2c0-48c9-a7d9-4840c7537311	g.chr9:19093294C>T	ENST00000380502.3	-	4	778	c.311G>A	c.(310-312)tGt>tAt	p.C104Y	HAUS6_ENST00000380496.1_5'Flank	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	104					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCTACTTCCACATTCACCCTA	0.343																																						ENST00000380502.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(310-312)tGt>tAt		HAUS augmin-like complex, subunit 6							58	54	55					9																	19093294		2203	4296	6499	SO:0001583	missense	54801				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		g.chr9:19093294C>T	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"HAUS augmin-like complex subunits"	25948	protein-coding gene	gene with protein product		613433	"family with sequence similarity 29, member A"	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.311G>A	9.37:g.19093294C>T	ENSP00000369871:p.Cys104Tyr						p.C104Y	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN			4	778	-			104					B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	c.311G>A	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.336088	0.41398	.	.	ENSG00000147874	ENST00000380502	T	0.23950	1.88	4.87	3.97	0.46021	.	0.592836	0.18178	N	0.149230	T	0.44973	0.1319	M	0.75447	2.3	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.30966	-0.9960	10	0.41790	T	0.15	-8.3156	6.2642	0.20917	0.1825:0.7219:0.0:0.0957	.	104	Q7Z4H7	HAUS6_HUMAN	Y	104	ENSP00000369871:C104Y	ENSP00000369871:C104Y	C	-	2	0	HAUS6	19083294	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	1.833000	0.39161	1.042000	0.40150	-0.253000	0.11424	TGT		0.343	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		14	20	0	0	0	1	0	14	20					T	19093294	C	T	19093294	3	4	67	1	0	0	0	0	1	0	0	0	6970	478	17	2	2612	2	HAUS6	9	19093294	Missense_Mutation	SNP	C	TCGA-DE-A69K-01A-11D-A397-08	18358516	19093294	122120137	8	1548											
PTPRR	5801	broad.mit.edu	37	chr12	71139698	71139698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctcggccttgagggtccaCgacaacattcagtacctttg	9	13	1	1	rs370625173		TCGA-DE-A69K-01A-11D-A397-08	TCGA-DE-A69K-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c76f3f11-d2e6-4f77-9928-60ee989f34bd	f2f437ba-f2c0-48c9-a7d9-4840c7537311	g.chr12:71139698C>T	ENST00000283228.2	-	6	1359	c.907G>A	c.(907-909)Gtg>Atg	p.V303M	PTPRR_ENST00000378778.1_Missense_Mutation_p.V97M|PTPRR_ENST00000440835.2_Missense_Mutation_p.V58M|PTPRR_ENST00000342084.4_Missense_Mutation_p.V191M|PTPRR_ENST00000549308.1_Missense_Mutation_p.V58M	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	303					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TGAGGGTCCACGACAACATTC	0.537																																						ENST00000283228.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41						c.(907-909)Gtg>Atg		protein tyrosine phosphatase, receptor type, R		C	MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	192	142	159		571,289,907,172	4.3	0.7	12		159	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense	PTPRR	NM_001207015.1,NM_001207016.1,NM_002849.3,NM_130846.2	21,21,21,21	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign,benign	191/546,97/452,303/658,58/413	71139698	2,13004	2203	4300	6503	SO:0001583	missense	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71139698C>T	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.907G>A	12.37:g.71139698C>T	ENSP00000283228:p.Val303Met					PTPRR_ENST00000342084.4_Missense_Mutation_p.V191M|PTPRR_ENST00000440835.2_Missense_Mutation_p.V58M|PTPRR_ENST00000549308.1_Missense_Mutation_p.V58M|PTPRR_ENST00000378778.1_Missense_Mutation_p.V97M	p.V303M	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	6	1359	-			303					B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.907G>A	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.431640	0.43122	0.0	2.33E-4	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308;ENST00000550661	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	5.21	4.28	0.50868	.	0.155280	0.30227	N	0.010119	T	0.36580	0.0972	L	0.46157	1.445	0.42266	D	0.992036	P;P;P;P	0.51240	0.943;0.883;0.481;0.943	B;B;B;B	0.42692	0.395;0.29;0.151;0.317	T	0.10543	-1.0625	10	0.25106	T	0.35	-6.4156	12.3259	0.55011	0.0:0.9136:0.0:0.0864	.	152;191;97;303	B7Z998;F5GXR7;Q15256-4;Q15256	.;.;.;PTPRR_HUMAN	M	58;303;97;191;58;58	ENSP00000391750:V58M;ENSP00000283228:V303M;ENSP00000368054:V97M;ENSP00000339605:V191M;ENSP00000446943:V58M;ENSP00000449616:V58M	ENSP00000283228:V303M	V	-	1	0	PTPRR	69425965	0.988000	0.35896	0.660000	0.29694	0.982000	0.71751	2.979000	0.49313	1.108000	0.41662	0.655000	0.94253	GTG		0.537	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		21	36	0	0	0	1	0	21	36					T	71139698	C	T	71139698	3	4	67	1	0	0	0	0	1	0	0	0	12810	536	19	1	1102	1	PTPRR	12	71139698	Missense_Mutation	SNP	C	TCGA-DE-A69K-01A-11D-A397-08		71139698	62712197	9	1549											
GAS2L3	283431	broad.mit.edu	37	chr12	101005793	101005793	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccagaattttccaatgagaAaagtgccctgtaagaaagat	8	7	0	4			TCGA-DE-A69K-01A-11D-A397-08	TCGA-DE-A69K-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c76f3f11-d2e6-4f77-9928-60ee989f34bd	f2f437ba-f2c0-48c9-a7d9-4840c7537311	g.chr12:101005793A>G	ENST00000539410.1	+	5	705	c.319A>G	c.(319-321)Aaa>Gaa	p.K107E	GAS2L3_ENST00000537247.1_Missense_Mutation_p.K3E|GAS2L3_ENST00000547754.1_Missense_Mutation_p.K107E|GAS2L3_ENST00000266754.5_Missense_Mutation_p.K107E			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	107	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						TCCAATGAGAAAAGTGCCCTG	0.353																																						ENST00000537247.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(7-9)Aaa>Gaa		growth arrest-specific 2 like 3							105	104	104					12																	101005793		2203	4300	6503	SO:0001583	missense	283431				cell cycle arrest			g.chr12:101005793A>G	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.319A>G	12.37:g.101005793A>G	ENSP00000439672:p.Lys107Glu					GAS2L3_ENST00000266754.5_Missense_Mutation_p.K107E|GAS2L3_ENST00000539410.1_Missense_Mutation_p.K107E|GAS2L3_ENST00000547754.1_Missense_Mutation_p.K107E	p.K3E			Q86XJ1	GA2L3_HUMAN			6	961	+			107					B2RCN2	Missense_Mutation	SNP	ENST00000539410.1	37	c.7A>G	CCDS9079.1	.	.	.	.	.	.	.	.	.	.	A	17.02	3.282339	0.59867	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	D;D;T;D	0.95205	-3.64;-3.64;0.88;-3.64	5.81	5.81	0.92471	Calponin homology domain (5);	0.197891	0.51477	D	0.000084	D	0.93664	0.7976	L	0.59967	1.855	0.37738	D	0.925525	B	0.15473	0.013	B	0.29440	0.102	D	0.92181	0.5751	10	0.56958	D	0.05	-17.5249	16.2108	0.82158	1.0:0.0:0.0:0.0	.	107	Q86XJ1	GA2L3_HUMAN	E	107;107;3;107	ENSP00000266754:K107E;ENSP00000448955:K107E;ENSP00000442406:K3E;ENSP00000439672:K107E	ENSP00000266754:K107E	K	+	1	0	GAS2L3	99529924	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	7.069000	0.76755	2.230000	0.72887	0.456000	0.33151	AAA		0.353	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942		5	63	0	0	0	1	0	5	63					G	101005793	A	G	101005793	3	3	67	1	0	0	0	0	1	0	0	0	6248	15	1	3	333	3	GAS2L3	12	101005793	Missense_Mutation	SNP	A	TCGA-DE-A69K-01A-11D-A397-08	29866095	101005793	32846102	10	1550											
NALCN	259232	broad.mit.edu	37	chr13	101797195	101797195	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaatttttcaaagattcgcAggcgtaaagggagcttttct	10	6	2	1			TCGA-DE-A69K-01A-11D-A397-08	TCGA-DE-A69K-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c76f3f11-d2e6-4f77-9928-60ee989f34bd	f2f437ba-f2c0-48c9-a7d9-4840c7537311	g.chr13:101797195A>G	ENST00000251127.6	-	16	1973	c.1892T>C	c.(1891-1893)cTg>cCg	p.L631P		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	631					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAAGATTCGCAGGCGTAAAGG	0.353																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(1891-1893)cTg>cCg		sodium leak channel, non-selective							173	190	184					13																	101797195		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101797195A>G	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1892T>C	13.37:g.101797195A>G	ENSP00000251127:p.Leu631Pro						p.L631P	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			16	1973	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		631					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.1892T>C	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.483926	0.84854	.	.	ENSG00000102452	ENST00000251127	D	0.98345	-4.88	5.75	5.75	0.90469	.	0.065742	0.64402	D	0.000007	D	0.98349	0.9452	L	0.46819	1.47	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.99879	1.1110	10	0.72032	D	0.01	.	16.0519	0.80769	1.0:0.0:0.0:0.0	.	631	Q8IZF0	NALCN_HUMAN	P	631	ENSP00000251127:L631P	ENSP00000251127:L631P	L	-	2	0	NALCN	100595196	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.850000	0.92190	2.196000	0.70406	0.533000	0.62120	CTG		0.353	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		4	138	0	0	0	1	0	4	138					G	101797195	A	G	101797195	3	3	67	1	0	0	0	0	1	0	0	0	10148	188	7	3	3440	3	NALCN	13	101797195	Missense_Mutation	SNP	A	TCGA-DE-A69K-01A-11D-A397-08		101797195	13372683	11	1551											
FLJ10357	55701	broad.mit.edu	37	chr14	21542982	21542982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggaggccaggggGctgaaggaccacctggtacc	19	9	0	1			TCGA-DE-A69K-01A-11D-A397-08	TCGA-DE-A69K-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c76f3f11-d2e6-4f77-9928-60ee989f34bd	f2f437ba-f2c0-48c9-a7d9-4840c7537311	g.chr14:21542982G>A	ENST00000298694.4	+	3	1220	c.1093G>A	c.(1093-1095)Gct>Act	p.A365T	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.A365T			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	365	Gly-rich.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						AGGCCAGGGGGCTGAAGGACC	0.637																																						ENST00000298694.4																			0				large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						c.(1093-1095)Gct>Act		Rho guanine nucleotide exchange factor (GEF) 40							42	36	38					14																	21542982		2203	4298	6501	SO:0001583	missense	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21542982G>A		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"Rho guanine nucleotide exchange factors"	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.1093G>A	14.37:g.21542982G>A	ENSP00000298694:p.Ala365Thr					ARHGEF40_ENST00000298693.3_Missense_Mutation_p.A365T	p.A365T			Q8TER5	ARH40_HUMAN			3	1220	+			365			Gly-rich.		A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Missense_Mutation	SNP	ENST00000298694.4	37	c.1093G>A	CCDS32041.1	.	.	.	.	.	.	.	.	.	.	G	1.291	-0.607476	0.03717	.	.	ENSG00000165801	ENST00000298694;ENST00000555038;ENST00000298693	T;T	0.02280	4.43;4.36	5.14	-3.25	0.05079	.	1.122620	0.06724	N	0.775421	T	0.01320	0.0043	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.49163	-0.8968	10	0.10636	T	0.68	.	1.8137	0.03096	0.377:0.1263:0.3682:0.1286	.	365;365	Q8TER5;G3V3N2	ARH40_HUMAN;.	T	365	ENSP00000298694:A365T;ENSP00000298693:A365T	ENSP00000298693:A365T	A	+	1	0	ARHGEF40	20612822	0.000000	0.05858	0.035000	0.18076	0.215000	0.24574	-0.011000	0.12721	-0.508000	0.06540	-0.379000	0.06801	GCT		0.637	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			20	18	0	0	0	1	0	20	18					A	21542982	G	A	21542982	3	1	67	1	0	0	0	0	1	0	0	0	5926	1203	42	2	1103	2	FLJ10357	14	21542982	Missense_Mutation	SNP	G	TCGA-DE-A69K-01A-11D-A397-08		21542982	85806558	12	1552											
PRSS53	339105	broad.mit.edu	37	chr16	31098889	31098889	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgggcagcagtgaggacccAggtgtctgccaccagggagc	17	11	1	1			TCGA-DE-A69K-01A-11D-A397-08	TCGA-DE-A69K-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c76f3f11-d2e6-4f77-9928-60ee989f34bd	f2f437ba-f2c0-48c9-a7d9-4840c7537311	g.chr16:31098889A>G	ENST00000280606.6	-	3	364	c.211T>C	c.(211-213)Tgg>Cgg	p.W71R	RP11-196G11.1_ENST00000529564.1_Missense_Mutation_p.W146R	NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	71	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			large_intestine(1)|lung(3)	4						GTGAGGACCCAGGTGTCTGCC	0.627																																						ENST00000280606.6																			0				large_intestine(1)|lung(3)	4						c.(211-213)Tgg>Cgg		protease, serine, 53							23	29	27					16																	31098889		2100	4252	6352	SO:0001583	missense	339105				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:31098889A>G		CCDS42153.1	16p11.2	2010-05-07			ENSG00000151006	ENSG00000151006		"Serine peptidases / Serine peptidases"	34407	protein-coding gene	gene with protein product	"polyserase 3"	610561				16566820	Standard	NM_001039503		Approved	POL3S	uc002eaq.3	Q2L4Q9	OTTHUMG00000047358	ENST00000280606.6:c.211T>C	16.37:g.31098889A>G	ENSP00000280606:p.Trp71Arg					RP11-196G11.1_ENST00000529564.1_Missense_Mutation_p.W146R	p.W71R	NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN			3	364	-			71			Peptidase S1 1.			Missense_Mutation	SNP	ENST00000280606.6	37	c.211T>C	CCDS42153.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.296409	0.81025	.	.	ENSG00000151006;ENSG00000255439	ENST00000280606;ENST00000529564	D;D	0.83992	-1.79;-1.79	5.97	5.97	0.96955	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.34580	U	0.003843	D	0.92378	0.7581	M	0.88775	2.98	0.52099	D	0.999941	D	0.76494	0.999	D	0.83275	0.996	D	0.93606	0.6934	10	0.87932	D	0	.	15.433	0.75116	1.0:0.0:0.0:0.0	.	71	Q2L4Q9	PRS53_HUMAN	R	71;146	ENSP00000280606:W71R;ENSP00000431371:W146R	ENSP00000280606:W71R	W	-	1	0	RP11-196G11.1;PRSS53	31006390	1.000000	0.71417	0.993000	0.49108	0.891000	0.51852	4.734000	0.62043	2.288000	0.76882	0.533000	0.62120	TGG		0.627	PRSS53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108580.4	NM_001081268		3	24	0	0	0	1	0	3	24					G	31098889	A	G	31098889	3	3	67	1	0	0	0	0	1	0	0	0	12632	188	7	3	1486	3	PRSS53	16	31098889	Missense_Mutation	SNP	A	TCGA-DE-A69K-01A-11D-A397-08		31098889	59255864	13	1553											
AKAP8	10270	broad.mit.edu	37	chr19	15482768	15482768	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctggtggacttacaccctTgaattcttcatctcctgagc	8	13	3	2			TCGA-DE-A69K-01A-11D-A397-08	TCGA-DE-A69K-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c76f3f11-d2e6-4f77-9928-60ee989f34bd	f2f437ba-f2c0-48c9-a7d9-4840c7537311	g.chr19:15482768T>C	ENST00000269701.2	-	7	1093	c.1033A>G	c.(1033-1035)Aag>Gag	p.K345E		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	345					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						CTTACACCCTTGAATTCTTCA	0.527																																					GBM(190;1671 2163 3274 27186 30476)	ENST00000269701.2																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						c.(1033-1035)Aag>Gag		A kinase (PRKA) anchor protein 8							85	75	79					19																	15482768		2203	4300	6503	SO:0001583	missense	10270				signal transduction	nuclear matrix		g.chr19:15482768T>C	Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"A-kinase anchor proteins"	378	protein-coding gene	gene with protein product	"A-kinase anchor protein, 95kDa"	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.1033A>G	19.37:g.15482768T>C	ENSP00000269701:p.Lys345Glu						p.K345E	NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN			7	1093	-			345						Missense_Mutation	SNP	ENST00000269701.2	37	c.1033A>G	CCDS12329.1	.	.	.	.	.	.	.	.	.	.	T	4.229	0.041417	0.08196	.	.	ENSG00000105127	ENST00000269701;ENST00000537303	T	0.40225	1.04	5.44	0.36	0.16097	.	0.263977	0.26140	N	0.026113	T	0.21881	0.0527	N	0.22421	0.69	0.22330	N	0.999195	B;B	0.27791	0.189;0.189	B;B	0.22386	0.039;0.039	T	0.29640	-1.0005	10	0.02654	T	1	-27.3747	12.6965	0.57008	0.0:0.0:0.5788:0.4212	.	345;345	Q8NE02;O43823	.;AKAP8_HUMAN	E	345;94	ENSP00000269701:K345E	ENSP00000269701:K345E	K	-	1	0	AKAP8	15343768	0.998000	0.40836	0.994000	0.49952	0.941000	0.58515	0.525000	0.22956	0.004000	0.14682	0.460000	0.39030	AAG		0.527	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858		3	52	0	0	0	1	0	3	52					C	15482768	T	C	15482768	3	2	67	1	0	0	0	0	1	0	0	0	457	1821	63	3	1077	3	AKAP8	19	15482768	Missense_Mutation	SNP	T	TCGA-DE-A69K-01A-11D-A397-08		15482768	43646215	14	1554											
LRFN3	79414	broad.mit.edu	37	chr19	36431282	36431282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctgccctgcgctgccggGcagtgggggacccagagccc	17	16	0	1			TCGA-DE-A69K-01A-11D-A397-08	TCGA-DE-A69K-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c76f3f11-d2e6-4f77-9928-60ee989f34bd	f2f437ba-f2c0-48c9-a7d9-4840c7537311	g.chr19:36431282G>A	ENST00000588831.1	+	3	2009	c.955G>A	c.(955-957)Gca>Aca	p.A319T	LRFN3_ENST00000246529.3_Missense_Mutation_p.A319T			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	319	Ig-like.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCGCTGCCGGGCAGTGGGGGA	0.716																																						ENST00000588831.1																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(955-957)Gca>Aca		leucine rich repeat and fibronectin type III domain containing 3							6	8	7					19																	36431282		2003	3992	5995	SO:0001583	missense	79414				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane		g.chr19:36431282G>A	BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	28370	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 1"	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.955G>A	19.37:g.36431282G>A	ENSP00000466989:p.Ala319Thr					LRFN3_ENST00000246529.3_Missense_Mutation_p.A319T	p.A319T			Q9BTN0	LRFN3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		3	2009	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		319			Ig-like.		Q6UY10	Missense_Mutation	SNP	ENST00000588831.1	37	c.955G>A	CCDS12483.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331491	0.60853	.	.	ENSG00000126243	ENST00000246529	T	0.68331	-0.32	4.97	4.97	0.65823	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36444	N	0.002582	T	0.77805	0.4185	M	0.75264	2.295	0.38794	D	0.955044	P	0.45474	0.859	P	0.54706	0.759	T	0.81529	-0.0891	10	0.56958	D	0.05	.	15.7218	0.77718	0.0:0.0:1.0:0.0	.	319	Q9BTN0	LRFN3_HUMAN	T	319	ENSP00000246529:A319T	ENSP00000246529:A319T	A	+	1	0	LRFN3	41123122	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.362000	0.66098	2.299000	0.77371	0.460000	0.39030	GCA		0.716	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	NM_024509		6	6	0	0	0	1	0	6	6					A	36431282	G	A	36431282	3	1	67	1	0	0	0	0	1	0	0	0	8939	1203	42	2	957	2	LRFN3	19	36431282	Missense_Mutation	SNP	G	TCGA-DE-A69K-01A-11D-A397-08	20948514	36431282	22697701	15	1555											
CELSR1	9620	broad.mit.edu	37	chr22	46835246	46835246	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagcaggttcacgcaggtgcCcccgttcttgcacaccccgt	11	16	2	0			TCGA-DE-A69K-01A-11D-A397-08	TCGA-DE-A69K-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c76f3f11-d2e6-4f77-9928-60ee989f34bd	f2f437ba-f2c0-48c9-a7d9-4840c7537311	g.chr22:46835246C>G	ENST00000262738.3	-	3	4245	c.4246G>C	c.(4246-4248)Ggc>Cgc	p.G1416R		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1416	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)		ACGCAGGTGCCCCCGTTCTTG	0.647																																						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.(4246-4248)Ggc>Cgc		cadherin, EGF LAG seven-pass G-type receptor 1							68	56	60					22																	46835246		2203	4300	6503	SO:0001583	missense	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.chr22:46835246C>G	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.4246G>C	22.37:g.46835246C>G	ENSP00000262738:p.Gly1416Arg						p.G1416R	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	3	4245	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1416			EGF-like 3; calcium-binding.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.4246G>C	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834931	0.91036	.	.	ENSG00000075275	ENST00000262738	D	0.97480	-4.4	5.1	5.1	0.69264	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	U	0.000001	D	0.98880	0.9621	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99741	1.1015	10	0.87932	D	0	.	18.1211	0.89572	0.0:1.0:0.0:0.0	.	1416	Q9NYQ6	CELR1_HUMAN	R	1416	ENSP00000262738:G1416R	ENSP00000262738:G1416R	G	-	1	0	CELSR1	45213910	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.457000	0.80775	2.387000	0.81309	0.561000	0.74099	GGC		0.647	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		10	37	0	0	0	1	0	10	37					G	46835246	C	G	46835246	3	3	67	1	0	0	0	0	1	0	0	0	3221	623	22	4	4930	4	CELSR1	22	46835246	Missense_Mutation	SNP	C	TCGA-DE-A69K-01A-11D-A397-08		46835246	4469320	16	1556											
OR13H1	347468	broad.mit.edu	37	chrX	130678747	130678747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgctcactccagggcaggCtcaaggcctttaccacatgt	9	14	2	0			TCGA-DE-A69K-01A-11D-A397-08	TCGA-DE-A69K-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c76f3f11-d2e6-4f77-9928-60ee989f34bd	f2f437ba-f2c0-48c9-a7d9-4840c7537311	g.chrX:130678747C>T	ENST00000338616.3	+	1	798	c.700C>T	c.(700-702)Ctc>Ttc	p.L234F		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					CCAGGGCAGGCTCAAGGCCTT	0.493																																						ENST00000338616.3																			0				endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						c.(700-702)Ctc>Ttc		olfactory receptor, family 13, subfamily H, member 1							200	175	184					X																	130678747		2203	4300	6503	SO:0001583	missense	347468				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chrX:130678747C>T		CCDS35396.1	Xq26.2	2012-08-23			ENSG00000171054	ENSG00000171054		"GPCR / Class A : Olfactory receptors"	14755	protein-coding gene	gene with protein product							Standard	NM_001004486		Approved		uc011muw.2	Q8NG92	OTTHUMG00000022411	ENST00000338616.3:c.700C>T	X.37:g.130678747C>T	ENSP00000340748:p.Leu234Phe						p.L234F	NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN			1	798	+	Acute lymphoblastic leukemia(192;0.000636)		234					B2RNQ3|Q6IET8|Q96R12	Missense_Mutation	SNP	ENST00000338616.3	37	c.700C>T	CCDS35396.1	.	.	.	.	.	.	.	.	.	.	C	1.948	-0.442020	0.04604	.	.	ENSG00000171054	ENST00000338616	T	0.00130	8.69	4.87	-0.44	0.12261	GPCR, rhodopsin-like superfamily (1);	0.441651	0.16675	N	0.204190	T	0.00109	0.0003	N	0.26130	0.795	0.09310	N	1	B	0.23806	0.091	B	0.28385	0.089	T	0.27262	-1.0079	10	0.49607	T	0.09	.	3.2699	0.06878	0.3007:0.2966:0.0:0.4027	.	234	Q8NG92	O13H1_HUMAN	F	234	ENSP00000340748:L234F	ENSP00000340748:L234F	L	+	1	0	OR13H1	130506428	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	-2.805000	0.00758	-0.480000	0.06803	-0.199000	0.12753	CTC		0.493	OR13H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058297.1			4	158	0	0	0	1	0	4	158					T	130678747	C	T	130678747	3	4	67	1	0	0	0	0	1	0	0	0	10943	797	28	2	702	2	OR13H1	23	130678747	Missense_Mutation	SNP	C	TCGA-DE-A69K-01A-11D-A397-08		130678747	24591813	17	1557											
INSRR	3645	broad.mit.edu	37	chr1	156811226	156811226	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagctcctccaggaccccgcCatccatgacgaacttcagca	7	18	1	1			TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	g.chr1:156811226C>G	ENST00000368195.3	-	21	4018	c.3622G>C	c.(3622-3624)Ggc>Cgc	p.G1208R	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1208	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGGACCCCGCCATCCATGACG	0.607																																						ENST00000368195.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(3622-3624)Ggc>Cgc		insulin receptor-related receptor							61	61	61					1																	156811226		2203	4300	6503	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156811226C>G	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"Fibronectin type III domain containing"	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.3622G>C	1.37:g.156811226C>G	ENSP00000357178:p.Gly1208Arg					NTRK1_ENST00000392302.2_Intron	p.G1208R	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN			21	4018	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		1208			Protein kinase.		O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.3622G>C	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.034196	0.54896	.	.	ENSG00000027644	ENST00000368195	D	0.84223	-1.82	4.89	3.9	0.45041	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.306760	0.23622	N	0.046239	D	0.86732	0.6003	.	.	.	0.42698	D	0.9936	D	0.64830	0.994	D	0.65233	0.933	D	0.87446	0.2398	9	0.87932	D	0	.	4.8733	0.13644	0.0:0.7439:0.0:0.2561	.	1208	P14616	INSRR_HUMAN	R	1208	ENSP00000357178:G1208R	ENSP00000357178:G1208R	G	-	1	0	INSRR	155077850	0.521000	0.26258	0.605000	0.28930	0.681000	0.39784	2.532000	0.45659	2.537000	0.85549	0.561000	0.74099	GGC		0.607	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		5	86	0	0	0	1	0	5	86					G	156811226	C	G	156811226	3	3	68	1	0	0	0	0	1	0	0	0	7774	594	21	4	278	4	INSRR	1	156811226	Missense_Mutation	SNP	C	TCGA-DE-A7U5-01A-11D-A397-08		156811226	92439395	1	1558											
WDR91	29062	broad.mit.edu	37	chr7	134894338	134894338	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caacaggcacctggattgtgTagacaagataaaatcgaaac	9	8	0	2			TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	g.chr7:134894338T>C	ENST00000354475.4	-	2	324	c.293A>G	c.(292-294)tAc>tGc	p.Y98C	WDR91_ENST00000485942.1_5'Flank|WDR91_ENST00000423565.1_Missense_Mutation_p.Y63C|WDR91_ENST00000344400.5_Missense_Mutation_p.Y98C	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	98										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						CTGGATTGTGTAGACAAGATA	0.478																																						ENST00000354475.4																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						c.(292-294)tAc>tGc		WD repeat domain 91							93	91	91					7																	134894338		2203	4300	6503	SO:0001583	missense	29062							g.chr7:134894338T>C	AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"WD repeat domain containing"	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.293A>G	7.37:g.134894338T>C	ENSP00000346466:p.Tyr98Cys					WDR91_ENST00000344400.5_Missense_Mutation_p.Y98C|WDR91_ENST00000423565.1_Missense_Mutation_p.Y63C	p.Y98C	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN			2	324	-			98					A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Missense_Mutation	SNP	ENST00000354475.4	37	c.293A>G	CCDS34758.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.186294	0.78789	.	.	ENSG00000105875	ENST00000344400;ENST00000354475;ENST00000423565	D;D;D	0.91521	-2.86;-2.86;-2.86	5.94	5.94	0.96194	.	0.171732	0.52532	D	0.000063	D	0.92341	0.7570	M	0.61703	1.905	0.54753	D	0.999985	D	0.62365	0.991	P	0.52856	0.711	D	0.91859	0.5498	10	0.41790	T	0.15	-4.8883	16.3979	0.83621	0.0:0.0:0.0:1.0	.	98	A4D1P6	WDR91_HUMAN	C	98;98;63	ENSP00000340877:Y98C;ENSP00000346466:Y98C;ENSP00000392555:Y63C	ENSP00000340877:Y98C	Y	-	2	0	WDR91	134544878	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.825000	0.86693	2.279000	0.76181	0.459000	0.35465	TAC		0.478	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340019.1	NM_014149		4	102	0	0	0	1	0	4	102					C	134894338	T	C	134894338	3	2	68	1	0	0	0	0	1	0	0	0	17335	1638	57	3	2006	3	WDR91	7	134894338	Missense_Mutation	SNP	T	TCGA-DE-A7U5-01A-11D-A397-08		134894338	24244325	2	1559											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		17	41	0	0	0	1	0	17	41					T	140453136	A	T	140453136	3	4	68	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DE-A7U5-01A-11D-A397-08	5558798	140453136	18685527	3	1560											
FAM75C1	441452	broad.mit.edu	37	chr9	90535640	90535640	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctccacgtgaggatttggCggcttctgtcccagccatct	11	13	3	1			TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	g.chr9:90535640C>T	ENST00000602681.1	+	0	1544							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GAGGATTTGGCGGCTTCTGTC	0.562																																						ENST00000602681.1																			0																				57	51	53					9																	90535640		692	1591	2283			0							g.chr9:90535640C>T	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"family with sequence similarity 75, member C1"	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535640C>T														0	1544	+									RNA	SNP	ENST00000602681.1	37																																																																																						0.562	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		5	195	0	0	0	1	0	5	195					T	90535640	C	T	90535640	1	4	68	0	1	0	0	0	0	0	0	0	5623	768	27	1		1	FAM75C1	9	90535640	RNA	SNP	C	TCGA-DE-A7U5-01A-11D-A397-08		90535640	50677791	4	1561											
SMARCC2	6601	broad.mit.edu	37	chr12	56563450	56563450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcacttcctcctgcccttCctttggctccttctccttct	4	19	2	0			TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	g.chr12:56563450C>T	ENST00000267064.4	-	24	2571	c.2485G>A	c.(2485-2487)Gaa>Aaa	p.E829K	SMARCC2_ENST00000347471.4_Missense_Mutation_p.E860K|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Missense_Mutation_p.E860K|SMARCC2_ENST00000394023.3_Missense_Mutation_p.E860K	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	829	Glu-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			tcctgcccttcctttggctcc	0.597																																						ENST00000394023.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(2578-2580)Gaa>Aaa		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2							164	113	130					12																	56563450		2203	4300	6503	SO:0001583	missense	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56563450C>T	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.2485G>A	12.37:g.56563450C>T	ENSP00000267064:p.Glu829Lys					SMARCC2_ENST00000267064.4_Missense_Mutation_p.E829K|SMARCC2_ENST00000347471.4_Missense_Mutation_p.E860K|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Missense_Mutation_p.E860K	p.E860K	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		25	2683	-			829					F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	c.2578G>A	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.147499	0.57151	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T;T	0.50548	1.08;0.74;0.78;0.78	4.9	4.9	0.64082	.	0.434143	0.22589	N	0.058102	T	0.56659	0.2000	L	0.40543	1.245	0.44402	D	0.997316	P;D;P;P;D	0.56035	0.956;0.974;0.956;0.956;0.974	P;D;P;P;D	0.67725	0.899;0.953;0.899;0.899;0.953	T	0.47787	-0.9090	10	0.25106	T	0.35	-3.9482	14.0478	0.64714	0.0:1.0:0.0:0.0	.	749;860;864;829;860	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	K	860;860;860;829	ENSP00000377591:E860K;ENSP00000449396:E860K;ENSP00000302919:E860K;ENSP00000267064:E829K	ENSP00000267064:E829K	E	-	1	0	SMARCC2	54849717	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.829000	0.62737	2.463000	0.83235	0.456000	0.33151	GAA		0.597	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			15	21	0	0	0	1	0	15	21					T	56563450	C	T	56563450	3	4	68	1	0	0	0	0	1	0	0	0	14776	864	30	2	1179	2	SMARCC2	12	56563450	Missense_Mutation	SNP	C	TCGA-DE-A7U5-01A-11D-A397-08		56563450	77288445	5	1562											
AHNAK2	113146	broad.mit.edu	37	chr14	105409977	105409977	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggctcctggggcctcgacGtccacctccacgctgggcag	13	16	0	0	rs569298803	byFrequency	TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	g.chr14:105409977G>A	ENST00000333244.5	-	7	11930	c.11811C>T	c.(11809-11811)gaC>gaT	p.D3937D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3937						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)			GGGCCTCGACGTCCACCTCCA	0.597													.|||	4	0.000798722	0.0023	0	5008	,	,		18962	0.001		0	False		,,,				2504	0					ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(11809-11811)gaC>gaT		AHNAK nucleoprotein 2							151	165	160					14																	105409977		1980	4147	6127	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105409977G>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.11811C>T	14.37:g.105409977G>A						AHNAK2_ENST00000557457.1_Intron	p.D3937D	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	11930	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3937					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.11811C>T	CCDS45177.1																																																																																				0.597	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		7	429	0	0	0	1	0	7	429					A	105409977	G	A	105409977	2	1	68	1	0	0	0	0	0	0	0	1	415	1136	40	1		1	AHNAK2	14	105409977	Silent	SNP	G	TCGA-DE-A7U5-01A-11D-A397-08		105409977	1939563	6	1563											
FAM169B	283777	broad.mit.edu	37	chr15	98995117	98995117	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcgtcctctgggaatgTctcacagaagtcccgcagca	11	14	2	1			TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	g.chr15:98995117T>C	ENST00000558256.1	-	5	556	c.307A>G	c.(307-309)Aca>Gca	p.T103A	FAM169B_ENST00000332908.4_Missense_Mutation_p.T103A	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	103										large_intestine(3)|lung(3)|urinary_tract(1)	7						TCTGGGAATGTCTCACAGAAG	0.572																																						ENST00000558256.1																			0				large_intestine(3)|lung(3)|urinary_tract(1)	7						c.(307-309)Aca>Gca		family with sequence similarity 169, member B							48	53	51					15																	98995117		2020	4189	6209	SO:0001583	missense	283777							g.chr15:98995117T>C		CCDS45360.1	15q26.3	2008-08-08			ENSG00000185087	ENSG00000185087			26835	protein-coding gene	gene with protein product							Standard	NM_182562		Approved	FLJ39743, KIAA0888L	uc002buk.1	Q8N8A8		ENST00000558256.1:c.307A>G	15.37:g.98995117T>C	ENSP00000453554:p.Thr103Ala					FAM169B_ENST00000332908.4_Missense_Mutation_p.T103A	p.T103A	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN			5	556	-			103					B5MDL8	Missense_Mutation	SNP	ENST00000558256.1	37	c.307A>G	CCDS45360.1	.	.	.	.	.	.	.	.	.	.	T	8.876	0.950363	0.18431	.	.	ENSG00000185087	ENST00000332908	T	0.10573	2.86	4.69	3.58	0.41010	.	0.452301	0.22492	N	0.059359	T	0.06917	0.0176	L	0.31926	0.97	0.23260	N	0.99802	P	0.35155	0.487	B	0.30943	0.122	T	0.32719	-0.9896	10	0.72032	D	0.01	-7.0272	3.1798	0.06581	0.1736:0.1853:0.0:0.6411	.	103	Q8N8A8	F169B_HUMAN	A	103	ENSP00000332615:T103A	ENSP00000332615:T103A	T	-	1	0	FAM169B	96812640	1.000000	0.71417	0.581000	0.28614	0.124000	0.20399	1.286000	0.33273	0.848000	0.35191	0.529000	0.55759	ACA		0.572	FAM169B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415488.1	NM_182562		14	21	0	0	0	1	0	14	21					C	98995117	T	C	98995117	3	2	68	1	0	0	0	0	1	0	0	0	5488	1667	58	3	283	3	FAM169B	15	98995117	Missense_Mutation	SNP	T	TCGA-DE-A7U5-01A-11D-A397-08		98995117	3536275	7	1564											
CCDC123	84902	broad.mit.edu	37	chr19	33390789	33390789	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cataagactgtcacgttcctGggttatgttttctgccaggc	10	10	2	1			TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	g.chr19:33390789G>A	ENST00000305768.5	-	16	1937	c.1849C>T	c.(1849-1851)Cag>Tag	p.Q617*		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	617					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TCACGTTCCTGGGTTATGTTT	0.398																																						ENST00000305768.4																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						c.(1849-1851)Cag>Tag		centrosomal protein 89kDa							148	126	134					19																	33390789		2203	4300	6503	SO:0001587	stop_gained	84902					centrosome|spindle pole		g.chr19:33390789G>A	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"coiled-coil domain containing 123"	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.1849C>T	19.37:g.33390789G>A	ENSP00000306105:p.Gln617*						p.Q617*	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN			16	1937	-			617					B9EGA6|Q8N5J8	Nonsense_Mutation	SNP	ENST00000305768.5	37	c.1849C>T	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.981742	0.93044	.	.	ENSG00000121289	ENST00000305768	.	.	.	5.0	3.94	0.45596	.	0.439647	0.26019	N	0.026839	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-13.9282	7.995	0.30263	0.0815:0.0:0.7528:0.1657	.	.	.	.	X	617	.	ENSP00000306105:Q617X	Q	-	1	0	CEP89	38082629	1.000000	0.71417	0.998000	0.56505	0.295000	0.27426	3.281000	0.51685	1.151000	0.42436	0.563000	0.77884	CAG		0.398	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		18	99	0	0	0	1	0	18	99					A	33390789	G	A	33390789	4	1	68	1	0	0	0	0	0	1	0	0	2759	1357	47	2	518	2	CCDC123	19	33390789	Nonsense_Mutation	SNP	G	TCGA-DE-A7U5-01A-11D-A397-08		33390789	25738194	8	1565											
ZNF234	10780	broad.mit.edu	37	chr19	44652938	44652938	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttataggagggactgaccttCaaggatgtggctgtggtctt	14	6	2	1			TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	g.chr19:44652938C>T	ENST00000426739.2	+	4	288	c.30C>T	c.(28-30)ttC>ttT	p.F10F	ZNF234_ENST00000590748.1_3'UTR|ZNF234_ENST00000592437.1_Silent_p.F10F	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	10	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GACTGACCTTCAAGGATGTGG	0.483																																						ENST00000426739.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23						c.(28-30)ttC>ttT		zinc finger protein 234							234	236	235					19																	44652938		2203	4300	6503	SO:0001819	synonymous_variant	10780				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44652938C>T	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"Zinc fingers, C2H2-type", "-"	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.30C>T	19.37:g.44652938C>T						ZNF234_ENST00000590748.1_3'UTR|ZNF234_ENST00000592437.1_Silent_p.F10F	p.F10F	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN			4	288	+		Prostate(69;0.0435)	10			KRAB.		A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Silent	SNP	ENST00000426739.2	37	c.30C>T	CCDS46101.1																																																																																				0.483	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			5	164	0	0	0	1	0	5	164					T	44652938	C	T	44652938	2	4	68	1	0	0	0	0	0	0	0	1	17784	825	29	2		2	ZNF234	19	44652938	Silent	SNP	C	TCGA-DE-A7U5-01A-11D-A397-08	11262149	44652938	14476045	9	1566											
THOC5	8563	broad.mit.edu	37	chr22	29904501	29904501	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atttaaatggcttcatcctgCtaggacccctagagaaatag	8	9	1	1	rs139614127		TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	g.chr22:29904501C>G	ENST00000490103.1	-	20	2119	c.1997G>C	c.(1996-1998)aGc>aCc	p.S666T	THOC5_ENST00000397873.2_Missense_Mutation_p.S666T|THOC5_ENST00000397871.1_Missense_Mutation_p.S666T|THOC5_ENST00000397872.1_Missense_Mutation_p.S666T	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	666					blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTTCATCCTGCTAGGACCCCT	0.463																																						ENST00000490103.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1996-1998)aGc>aCc		THO complex 5							88	80	83					22																	29904501		2203	4300	6503	SO:0001583	missense	8563				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding	g.chr22:29904501C>G	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"THO complex subunits"	19074	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 79"	612733	"chromosome 22 open reading frame 19"	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.1997G>C	22.37:g.29904501C>G	ENSP00000420306:p.Ser666Thr					THOC5_ENST00000397873.2_Missense_Mutation_p.S666T|THOC5_ENST00000397871.1_Missense_Mutation_p.S666T|THOC5_ENST00000397872.1_Missense_Mutation_p.S666T	p.S666T	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN			20	2119	-			666					O60839|Q9UPZ5	Missense_Mutation	SNP	ENST00000490103.1	37	c.1997G>C	CCDS13859.1	.	.	.	.	.	.	.	.	.	.	C	7.827	0.719066	0.15372	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.93	3.77	0.43336	.	0.160314	0.64402	N	0.000002	T	0.11836	0.0288	N	0.26042	0.785	0.47245	D	0.999367	B	0.23937	0.094	B	0.24541	0.054	T	0.10706	-1.0618	10	0.10111	T	0.7	-23.7232	6.8211	0.23857	0.1227:0.6521:0.1552:0.07	.	666	Q13769	THOC5_HUMAN	T	666	ENSP00000420306:S666T;ENSP00000380970:S666T;ENSP00000380969:S666T;ENSP00000380971:S666T	ENSP00000380969:S666T	S	-	2	0	THOC5	28234501	1.000000	0.71417	0.997000	0.53966	0.910000	0.53928	2.074000	0.41529	0.759000	0.33084	0.655000	0.94253	AGC		0.463	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678		7	43	0	0	0	1	0	7	43					G	29904501	C	G	29904501	3	3	68	1	0	0	0	0	1	0	0	0	15865	797	28	4	58	4	THOC5	22	29904501	Missense_Mutation	SNP	C	TCGA-DE-A7U5-01A-11D-A397-08		29904501	21400065	10	1567											
CELSR1	9620	broad.mit.edu	37	chr22	46768939	46768939	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtagtggaggaggatggcaaCcactgtgcacagaaactgcg	15	8	0	1			TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	g.chr22:46768939C>A	ENST00000262738.3	-	25	7599	c.7600G>T	c.(7600-7602)Gtt>Ttt	p.V2534F		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2534					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)		AGGATGGCAACCACTGTGCAC	0.617																																						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.(7600-7602)Gtt>Ttt		cadherin, EGF LAG seven-pass G-type receptor 1							96	67	77					22																	46768939		2199	4298	6497	SO:0001583	missense	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.chr22:46768939C>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.7600G>T	22.37:g.46768939C>A	ENSP00000262738:p.Val2534Phe						p.V2534F	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	25	7599	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	2534					O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.7600G>T	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	c	7.088	0.571545	0.13623	.	.	ENSG00000075275	ENST00000262738	T	0.38077	1.16	4.28	-0.806	0.10875	GPCR, family 2-like (1);	0.078137	0.47093	U	0.000243	T	0.46639	0.1403	M	0.65975	2.015	0.80722	D	1	D;B	0.59357	0.985;0.167	D;B	0.64410	0.925;0.117	T	0.39121	-0.9629	10	0.72032	D	0.01	.	4.49	0.11808	0.0:0.3402:0.1642:0.4956	.	855;2534	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	F	2534	ENSP00000262738:V2534F	ENSP00000262738:V2534F	V	-	1	0	CELSR1	45147603	1.000000	0.71417	0.239000	0.24122	0.004000	0.04260	2.063000	0.41423	-0.380000	0.07894	-0.512000	0.04463	GTT		0.617	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		4	22	1	0	0.00909568	1	0.00909568	4	22					A	46768939	C	A	46768939	3	1	68	1	0	0	0	0	1	0	0	0	3221	507	18	4	1488	4	CELSR1	22	46768939	Missense_Mutation	SNP	C	TCGA-DE-A7U5-01A-11D-A397-08	16864438	46768939	4535627	11	1568											
PER3	8863	broad.mit.edu	37	chr1	7886649	7886649	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcggctgttctgtcagcGcacacccagaaggaagagca	12	12	2	2			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr1:7886649G>A	ENST00000361923.2	+	16	2218	c.2043G>A	c.(2041-2043)gcG>gcA	p.A681A	PER3_ENST00000377532.3_Silent_p.A689A|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	681	CSNK1E binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTGTCAGCGCACACCCAGA	0.507																																						ENST00000377532.3																			0				breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39						c.(2065-2067)gcG>gcA		period circadian clock 3							62	56	58					1																	7886649		2203	4300	6503	SO:0001819	synonymous_variant	8863				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr1:7886649G>A	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"period (Drosophila) homolog 3", "period homolog 3 (Drosophila)"			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.2043G>A	1.37:g.7886649G>A						PER3_ENST00000361923.2_Silent_p.A681A|RP3-467L1.4_ENST00000451646.1_RNA	p.A689A			P56645	PER3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)	16	2291	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	681			CSNK1E binding domain (By similarity).		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Silent	SNP	ENST00000361923.2	37	c.2067G>A	CCDS89.1																																																																																				0.507	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		3	46	0	0	0	0.115264	0	3	46					A	7886649	G	A	7886649	2	1	69	1	0	0	0	0	0	0	0	1	11731	1074	38	1		1	PER3	1	7886649	Silent	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08		7886649	241363972	1	1569											
MTHFR	4524	broad.mit.edu	37	chr1	11854415	11854415	+	Splice_Site	DEL	T	T	-													cccactccagcatcactcacTttgtgaccattccggtttgg							TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr1:11854415delT	ENST00000376592.1	-	7	1475	c.1347delA	c.(1345-1347)aaa>aa	p.K449fs	MTHFR_ENST00000376583.3_Splice_Site_p.K490fs|MTHFR_ENST00000376585.1_Splice_Site_p.K490fs|MTHFR_ENST00000376590.3_Splice_Site_p.K449fs			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	449					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-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;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	CATCACTCACTTTGTGACCAT	0.587																																						ENST00000376592.1																			0				NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.e7+1		methylenetetrahydrofolate reductase (NAD(P)H)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)						69	74	73					1																	11854415		2203	4300	6503	SO:0001630	splice_region_variant	4524				blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding	g.chr1:11854415delT	BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"5,10-methylenetetrahydrofolate reductase (NADPH)"			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.1347+1A>-	1.37:g.11854415delT						MTHFR_ENST00000376583.3_Splice_Site_p.K490_splice|MTHFR_ENST00000376585.1_Splice_Site_p.K490_splice|MTHFR_ENST00000376590.3_Splice_Site_p.K449_splice	p.K449_splice			P42898	MTHR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	7	1475	-	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-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)	449					B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Splice_Site	DEL	ENST00000376592.1	37	c.1347_splice	CCDS137.1																																																																																				0.587	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1	NM_005957	Frame_Shift_Del	8	117						8	117	---	---	---	---	-	11854415	T	-	11854415	8	5	69	1	0	1	0	1	0	0	1	0	9931	1623	56	0	643	0	MTHFR	1	11854415	Splice_Site	DEL	T	TCGA-DJ-A13L-01A-11D-A21Z-08	3967766	11854415	237396206	2	1570											
RPS6KA1	6195	broad.mit.edu	37	chr1	26885311	26885311	+	Frame_Shift_Del	DEL	C	C	-													cgtacagattccccaggcatCccccccagcgctggggccca							TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr1:26885311delC	ENST00000374168.2	+	14	1252	c.1098delC	c.(1096-1098)atcfs	p.I366fs	RPS6KA1_ENST00000531382.1_Frame_Shift_Del_p.I375fs|RPS6KA1_ENST00000374162.2_Frame_Shift_Del_p.I274fs|RPS6KA1_ENST00000526792.1_Frame_Shift_Del_p.I274fs|RPS6KA1_ENST00000374166.4_Frame_Shift_Del_p.I355fs|RPS6KA1_ENST00000530003.1_Frame_Shift_Del_p.I350fs	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	366	AGC-kinase C-terminal.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|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)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|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)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CCCCAGGCATCCCCCCCAGCG	0.672																																						ENST00000374168.2																			0				lung(1)	1						c.(1096-1098)atfs		ribosomal protein S6 kinase, 90kDa, polypeptide 1							64	63	64					1																	26885311		2203	4300	6503	SO:0001589	frameshift_variant	6195				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:26885311delC	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"ribosomal protein S6 kinase, 90kD, polypeptide 1"			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.1098delC	1.37:g.26885311delC	ENSP00000363283:p.Ile366fs					RPS6KA1_ENST00000530003.1_Frame_Shift_Del_p.I350fs|RPS6KA1_ENST00000526792.1_Frame_Shift_Del_p.I274fs|RPS6KA1_ENST00000374166.4_Frame_Shift_Del_p.I355fs|RPS6KA1_ENST00000531382.1_Frame_Shift_Del_p.I375fs|RPS6KA1_ENST00000374162.2_Frame_Shift_Del_p.I274fs	p.I366fs	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	14	1252	+		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	366			AGC-kinase C-terminal.		A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Frame_Shift_Del	DEL	ENST00000374168.2	37	c.1098delC	CCDS284.1																																																																																				0.672	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		7	144						7	144	---	---	---	---	-	26885311	C	-	26885311	7	5	69	1	0	1	0	1	0	0	0	0	13650	845	30	0	1291	0	RPS6KA1	1	26885311	Frame_Shift_Del	DEL	C	TCGA-DJ-A13L-01A-11D-A21Z-08	15030896	26885311	222365310	3	1571											
CTSS	1520	broad.mit.edu	37	chr1	150727538	150727538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacagaatcaggcaatatcCgattagggtttgacttatat	8	8	1	2	rs140031053		TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr1:150727538C>T	ENST00000368985.3	-	4	598	c.338G>A	c.(337-339)cGg>cAg	p.R113Q	CTSS_ENST00000448301.2_Intron|CTSS_ENST00000480760.1_5'UTR	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	113			R -> W (in dbSNP:rs2230061). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.5}.		adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|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-independent (GO:0002480)|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)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.R113L(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			AGGCAATATCCGATTAGGGTT	0.433													c|||	1	0.000199681	0	0	5008	,	,		20302	0.001		0	False		,,,				2504	0					ENST00000368985.3																			1	Substitution - Missense(1)	p.R113L(1)	lung(1)	cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(337-339)cGg>cAg		cathepsin S							215	207	210					1																	150727538		2203	4300	6503	SO:0001583	missense	1520				immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity	g.chr1:150727538C>T	M90696	CCDS968.1, CCDS55634.1	1q21	2008-02-05			ENSG00000163131	ENSG00000163131	3.4.22.27	"Cathepsins"	2545	protein-coding gene	gene with protein product		116845				1373132	Standard	NM_001199739		Approved		uc001evn.3	P25774	OTTHUMG00000035010	ENST00000368985.3:c.338G>A	1.37:g.150727538C>T	ENSP00000357981:p.Arg113Gln					CTSS_ENST00000448301.2_Intron|CTSS_ENST00000480760.1_5'UTR	p.R113Q	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)		4	598	-	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		113		R -> W (in dbSNP:rs2230061).			B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3	Missense_Mutation	SNP	ENST00000368985.3	37	c.338G>A	CCDS968.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	c	0.729	-0.780487	0.02929	.	.	ENSG00000163131	ENST00000368985	T	0.21361	2.01	5.47	1.56	0.23342	.	3.731250	0.00357	N	0.000022	T	0.02571	0.0078	N	0.03194	-0.395	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30179	-0.9987	10	0.25106	T	0.35	.	4.81	0.13339	0.1378:0.2007:0.0:0.6615	.	113	P25774	CATS_HUMAN	Q	113	ENSP00000357981:R113Q	ENSP00000357981:R113Q	R	-	2	0	CTSS	148994162	0.002000	0.14202	0.009000	0.14445	0.233000	0.25261	0.169000	0.16641	0.016000	0.14998	-1.158000	0.01797	CGG		0.433	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084737.1	NM_004079		20	215	0	0	0	0.624587	0	20	215					T	150727538	C	T	150727538	3	4	69	1	0	0	0	0	1	0	0	0	4041	652	23	1	677	1	CTSS	1	150727538	Missense_Mutation	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08	123842227	150727538	98523083	4	1572											
STAM2	10254	broad.mit.edu	37	chr2	153003678	153003678	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tctgaataaatctctcacctGagaacctgctggaggaaaag	9	9	3	2			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr2:153003678G>C	ENST00000263904.4	-	5	794	c.445C>G	c.(445-447)Cag>Gag	p.Q149E	STAM2_ENST00000465460.1_5'UTR	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	149					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		TCTCTCACCTGAGAACCTGCT	0.363																																						ENST00000263904.4																			0				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16						c.(445-447)Cag>Gag		signal transducing adaptor molecule (SH3 domain and ITAM motif) 2							102	107	105					2																	153003678		2203	4300	6503	SO:0001583	missense	10254				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding	g.chr2:153003678G>C	AF042274	CCDS2196.1	2q23.3	2009-04-29			ENSG00000115145	ENSG00000115145			11358	protein-coding gene	gene with protein product	"HSE1 homolog (S. cerevisiae)"	606244				10899310, 10993906	Standard	NM_005843		Approved	Hbp	uc002tyc.4	O75886	OTTHUMG00000131885	ENST00000263904.4:c.445C>G	2.37:g.153003678G>C	ENSP00000263904:p.Gln149Glu					STAM2_ENST00000465460.1_5'UTR	p.Q149E	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.22)	5	794	-			149					A8K8A0|D3DPA1|Q7LDQ0|Q9UF58	Missense_Mutation	SNP	ENST00000263904.4	37	c.445C>G	CCDS2196.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572784	0.86542	.	.	ENSG00000115145	ENST00000263904	T	0.16897	2.31	5.42	5.42	0.78866	Src homology-3 domain (1);	1.362050	0.04956	N	0.461277	T	0.23766	0.0575	L	0.49513	1.565	0.80722	D	1	B;B	0.29085	0.152;0.232	B;B	0.32289	0.143;0.042	T	0.48779	-0.9005	10	0.07175	T	0.84	-7.9109	19.2062	0.93730	0.0:0.0:1.0:0.0	.	149;149	O75886-2;O75886	.;STAM2_HUMAN	E	149	ENSP00000263904:Q149E	ENSP00000263904:Q149E	Q	-	1	0	STAM2	152711924	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	9.813000	0.99286	2.533000	0.85409	0.655000	0.94253	CAG		0.363	STAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254835.2	NM_005843		8	122	0	0	0	0.361761	0	8	122					C	153003678	G	C	153003678	3	2	69	1	0	0	0	0	1	0	0	0	15248	1299	45	4	1172	4	STAM2	2	153003678	Missense_Mutation	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08		153003678	90195695	5	1573											
C3orf58	205428	broad.mit.edu	37	chr3	143691563	143691563	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagcatctgcaagcgggccaCcggccggccccgctgcgacc	14	18	1	0			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr3:143691563C>G	ENST00000315691.3	+	1	924	c.389C>G	c.(388-390)aCc>aGc	p.T130S	C3orf58_ENST00000495414.1_5'Flank|C3orf58_ENST00000493396.1_3'UTR|C3orf58_ENST00000441925.2_5'Flank	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	130					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AAGCGGGCCACCGGCCGGCCC	0.766																																						ENST00000315691.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(388-390)aCc>aGc		chromosome 3 open reading frame 58							6	7	7					3																	143691563		1808	3700	5508	SO:0001583	missense	205428					COPI vesicle coat|extracellular region		g.chr3:143691563C>G	AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"deleted in autism 1", "hypoxia and Akt induced stem cell factor"	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.389C>G	3.37:g.143691563C>G	ENSP00000320081:p.Thr130Ser					C3orf58_ENST00000493396.1_3'UTR	p.T130S	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN			1	924	+			130					B2RCF2|B7Z1W3	Missense_Mutation	SNP	ENST00000315691.3	37	c.389C>G	CCDS3130.1	.	.	.	.	.	.	.	.	.	.	C	9.919	1.211648	0.22289	.	.	ENSG00000181744	ENST00000315691	T	0.27720	1.65	3.89	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.17831	0.0428	N	0.17082	0.46	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.05649	-1.0872	10	0.06625	T	0.88	.	16.0803	0.81001	0.0:1.0:0.0:0.0	.	130	Q8NDZ4	CC058_HUMAN	S	130	ENSP00000320081:T130S	ENSP00000320081:T130S	T	+	2	0	C3orf58	145174253	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.028000	0.57246	2.027000	0.59764	0.561000	0.74099	ACC		0.766	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552		3	11	0	0	0	0.115264	0	3	11					G	143691563	C	G	143691563	3	3	69	1	0	0	0	0	1	0	0	0	2236	507	18	4	391	4	C3orf58	3	143691563	Missense_Mutation	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08		143691563	54330867	6	1574											
DVL3	1857	broad.mit.edu	37	chr3	183882940	183882940	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagagcagtgcctcacgcctGatgagaagacacaagcggcg	13	12	1	4			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr3:183882940G>A	ENST00000313143.3	+	6	887	c.639G>A	c.(637-639)ctG>ctA	p.L213L	DVL3_ENST00000431765.1_Silent_p.L213L|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	213					canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CCTCACGCCTGATGAGAAGAC	0.642																																						ENST00000313143.3																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35						c.(637-639)ctG>ctA		dishevelled segment polarity protein 3							55	63	60					3																	183882940		2203	4300	6503	SO:0001819	synonymous_variant	1857				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	g.chr3:183882940G>A	D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"Dishevelled homologs"	3087	protein-coding gene	gene with protein product		601368	"dishevelled 3 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 3 (Drosophila)"			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.639G>A	3.37:g.183882940G>A						EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Silent_p.L213L	p.L213L	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)		6	887	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		213					B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Silent	SNP	ENST00000313143.3	37	c.639G>A	CCDS3253.1																																																																																				0.642	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	NM_004423		5	59	0	0	0	0.217242	0	5	59					A	183882940	G	A	183882940	2	1	69	1	0	0	0	0	0	0	0	1	4837	1277	45	2		2	DVL3	3	183882940	Silent	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08	40191377	183882940	14139490	7	1575											
TBC1D9	23158	broad.mit.edu	37	chr4	141543797	141543797	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agtgttcctcgctgtcggggGccaggctggccggcaggggc	19	12	0	0			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr4:141543797G>C	ENST00000442267.2	-	21	3427	c.3353C>G	c.(3352-3354)gCc>gGc	p.A1118G		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1118							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GCTGTCGGGGGCCAGGCTGGC	0.657																																						ENST00000442267.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(3352-3354)gCc>gGc		TBC1 domain family, member 9 (with GRAM domain)							38	44	42					4																	141543797		1976	4143	6119	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141543797G>C	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"EF-hand domain containing"	21710	protein-coding gene	gene with protein product			"TBC1 domain family, member 9"			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.3353C>G	4.37:g.141543797G>C	ENSP00000411197:p.Ala1118Gly						p.A1118G	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN			21	3427	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	1118					A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.3353C>G	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	G	1.041	-0.678968	0.03378	.	.	ENSG00000109436	ENST00000442267	T	0.08458	3.09	4.64	2.76	0.32466	.	.	.	.	.	T	0.06188	0.0160	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42241	-0.9463	9	0.17369	T	0.5	.	5.2918	0.15731	0.1364:0.4491:0.4146:0.0	.	1118	Q6ZT07	TBCD9_HUMAN	G	1118	ENSP00000411197:A1118G	ENSP00000411197:A1118G	A	-	2	0	TBC1D9	141763247	0.000000	0.05858	0.012000	0.15200	0.362000	0.29581	-0.028000	0.12350	0.925000	0.37094	0.655000	0.94253	GCC		0.657	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		12	41	0	0	0	0.435327	0	12	41					C	141543797	G	C	141543797	3	2	69	1	0	0	0	0	1	0	0	0	15624	1203	42	4	451	4	TBC1D9	4	141543797	Missense_Mutation	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08		141543797	49610479	8	1576											
PRSS48	345062	broad.mit.edu	37	chr4	152203401	152203401	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtccaaaatcgtcatccatcCcaagtaccaagatacaacgg	6	13	1	1			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr4:152203401C>A	ENST00000455694.2	+	3	319	c.317C>A	c.(316-318)cCc>cAc	p.P106H	PRSS48_ENST00000441586.2_Intron|SH3D19_ENST00000604030.1_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	106	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						GTCATCCATCCCAAGTACCAA	0.468																																						ENST00000455694.2																			0				kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						c.(316-318)cCc>cAc		protease, serine, 48							285	268	273					4																	152203401		2055	4219	6274	SO:0001583	missense	345062				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr4:152203401C>A	BN000134	CCDS47145.1	4q31.3	2010-05-07			ENSG00000189099	ENSG00000189099		"Serine peptidases / Serine peptidases"	24635	protein-coding gene	gene with protein product						12838346	Standard	NM_183375		Approved	ESSPL	uc011cif.2	Q7RTY5	OTTHUMG00000161673	ENST00000455694.2:c.317C>A	4.37:g.152203401C>A	ENSP00000401328:p.Pro106His					SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Intron	p.P106H	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN			3	319	+			106			Peptidase S1.		Q08E82|Q0VAD4	Missense_Mutation	SNP	ENST00000455694.2	37	c.317C>A	CCDS47145.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.75|15.75	2.925812|2.925812	0.52759|0.52759	.|.	.|.	ENSG00000189099|ENSG00000189099	ENST00000455694|ENST00000530477	T|.	0.45276|.	0.9|.	3.59|3.59	1.81|1.81	0.25067|0.25067	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	0.976038|0.976038	0.08329|0.08329	N|N	0.962553|0.962553	T|T	0.76758|0.76758	0.4032|0.4032	M|M	0.88704|0.88704	2.975|2.975	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.75484|.	0.986|.	T|T	0.72097|0.72097	-0.4393|-0.4393	10|7	0.72032|0.66056	D|D	0.01|0.02	.|.	7.9136|7.9136	0.29806|0.29806	0.1809:0.6439:0.1753:0.0|0.1809:0.6439:0.1753:0.0	.|.	106|.	Q7RTY5|.	PRS48_HUMAN|.	H|T	106|89	ENSP00000401328:P106H|.	ENSP00000401328:P106H|ENSP00000431197:P89T	P|P	+|+	2|1	0|0	PRSS48|PRSS48	152422851|152422851	0.173000|0.173000	0.23056|0.23056	0.078000|0.078000	0.20375|0.20375	0.103000|0.103000	0.19146|0.19146	2.858000|2.858000	0.48356|0.48356	0.480000|0.480000	0.27534|0.27534	0.467000|0.467000	0.42956|0.42956	CCC|CCA		0.468	PRSS48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365685.3	NM_183375		10	190	1	0	0.0135373	0.411799	0.014891	10	190					A	152203401	C	A	152203401	3	1	69	1	0	0	0	0	1	0	0	0	12630	623	22	4	327	4	PRSS48	4	152203401	Missense_Mutation	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08	10659604	152203401	38950875	9	1577											
GFRA3	2676	broad.mit.edu	37	chr5	137595283	137595283	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	agtttgctgagattcattttCcagggtttgctggtcactgt	11	7	2	1			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr5:137595283C>G	ENST00000274721.3	-	3	681	c.435G>C	c.(433-435)tgG>tgC	p.W145C	GFRA3_ENST00000378362.3_Intron	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	145					nervous system development (GO:0007399)|neuron migration (GO:0001764)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|receptor binding (GO:0005102)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GATTCATTTTCCAGGGTTTGC	0.557																																						ENST00000274721.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12						c.(433-435)tgG>tgC		GDNF family receptor alpha 3							120	103	109					5																	137595283		2203	4300	6503	SO:0001583	missense	2676				peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding	g.chr5:137595283C>G	AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013			4245	protein-coding gene	gene with protein product		605710				9407096	Standard	NM_001496		Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.435G>C	5.37:g.137595283C>G	ENSP00000274721:p.Trp145Cys					GFRA3_ENST00000378362.3_Intron	p.W145C	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		3	681	-			145					B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Missense_Mutation	SNP	ENST00000274721.3	37	c.435G>C	CCDS4201.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.243948	0.58995	.	.	ENSG00000146013	ENST00000274721	T	0.30981	1.51	5.16	5.16	0.70880	.	0.096640	0.50627	D	0.000114	T	0.39708	0.1088	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.16129	-1.0413	10	0.38643	T	0.18	-18.0174	14.5027	0.67732	0.0:1.0:0.0:0.0	.	145	O60609	GFRA3_HUMAN	C	145	ENSP00000274721:W145C	ENSP00000274721:W145C	W	-	3	0	GFRA3	137623182	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.958000	0.56737	2.581000	0.87130	0.561000	0.74099	TGG		0.557	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251277.1	NM_001496		14	74	0	0	0	0.520397	0	14	74					G	137595283	C	G	137595283	3	3	69	1	0	0	0	0	1	0	0	0	6349	856	30	4	791	4	GFRA3	5	137595283	Missense_Mutation	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08		137595283	43319977	10	1578											
HIVEP1	3096	broad.mit.edu	37	chr6	12161971	12161971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatgactgtcctgagcacaGcacagtctgactacaatagg	10	10	1	3			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr6:12161971G>A	ENST00000379388.2	+	8	7119	c.6787G>A	c.(6787-6789)Gca>Aca	p.A2263T	HIVEP1_ENST00000541134.1_Missense_Mutation_p.A128T	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2263					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CCTGAGCACAGCACAGTCTGA	0.552																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(6787-6789)Gca>Aca		human immunodeficiency virus type I enhancer binding protein 1							86	89	88					6																	12161971		2140	4259	6399	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12161971G>A	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.6787G>A	6.37:g.12161971G>A	ENSP00000368698:p.Ala2263Thr					HIVEP1_ENST00000541134.1_Missense_Mutation_p.A128T	p.A2263T	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			8	7119	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	2263					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.6787G>A	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	8.134	0.783834	0.16189	.	.	ENSG00000095951	ENST00000379388;ENST00000442081;ENST00000541134;ENST00000542327	T;T	0.30448	3.04;1.53	5.77	0.94	0.19513	.	0.846246	0.09627	N	0.776749	T	0.06462	0.0166	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43718	-0.9374	10	0.13853	T	0.58	-1.0332	6.5588	0.22476	0.2953:0.2095:0.4953:0.0	.	2263	P15822	ZEP1_HUMAN	T	2263;190;128;245	ENSP00000368698:A2263T;ENSP00000445617:A128T	ENSP00000368698:A2263T	A	+	1	0	HIVEP1	12269957	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.061000	0.14366	-0.115000	0.11915	-0.137000	0.14449	GCA		0.552	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		3	70	0	0	0	0.115264	0	3	70					A	12161971	G	A	12161971	3	1	69	1	0	0	0	0	1	0	0	0	7186	971	34	2	6813	2	HIVEP1	6	12161971	Missense_Mutation	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08		12161971	158953096	11	1579											
CUL9	23113	broad.mit.edu	37	chr6	43173160	43173160	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caacttttgagcacttctatCagtgagtgcaggtctggagg	12	8	3	2	rs148718257	byFrequency	TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr6:43173160C>T	ENST00000252050.4	+	24	4876	c.4792C>T	c.(4792-4794)Cag>Tag	p.Q1598*	CUL9_ENST00000372647.2_Splice_Site_p.Q1598*|CUL9_ENST00000354495.3_Splice_Site_p.Q1488*	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1598					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GCACTTCTATCAGTGAGTGCA	0.517																																						ENST00000252050.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.e24+1		cullin 9							118	122	120					6																	43173160		2203	4300	6503	SO:0001630	splice_region_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43173160C>T	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.4793+1C>T	6.37:g.43173160C>T						CUL9_ENST00000354495.3_Splice_Site_p.Q1488_splice|CUL9_ENST00000372647.2_Splice_Site_p.Q1598_splice	p.Q1598_splice	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN			24	4876	+			1598					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Splice_Site	SNP	ENST00000252050.4	37	c.4793_splice	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	C	43	10.450940	0.99407	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	.	.	.	5.64	5.64	0.86602	.	0.224693	0.43747	D	0.000531	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-22.1622	13.7755	0.63050	0.2702:0.7297:0.0:0.0	.	.	.	.	X	1598;1488;1598	.	ENSP00000252050:Q1598X	Q	+	1	0	CUL9	43281138	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.761000	0.47589	2.655000	0.90218	0.561000	0.74099	CAG		0.517	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089	Nonsense_Mutation	14	141	0	0	0	0.557998	0	14	141					T	43173160	C	T	43173160	5	4	69	1	0	0	0	0	0	0	1	0	4061	840	29	2	4882	2	CUL9	6	43173160	Splice_Site	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08	31011189	43173160	127941907	12	1580											
STK31	56164	broad.mit.edu	37	chr7	23775294	23775294	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggtgcttaagaaaggAtttgcagagaaatgcagact	13	4	0	4			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr7:23775294A>T	ENST00000355870.3	+	7	740	c.621A>T	c.(619-621)ggA>ggT	p.G207G	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Silent_p.G207G|STK31_ENST00000354639.3_Silent_p.G184G|STK31_ENST00000428484.1_Silent_p.G184G	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	207						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTAAGAAAGGATTTGCAGAGA	0.413																																						ENST00000354639.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(550-552)ggA>ggT		serine/threonine kinase 31							138	128	131					7																	23775294		2203	4300	6503	SO:0001819	synonymous_variant	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23775294A>T	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"Tudor domain containing"	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.621A>T	7.37:g.23775294A>T						STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Silent_p.G207G|STK31_ENST00000433467.2_Silent_p.G207G|STK31_ENST00000428484.1_Silent_p.G184G	p.G184G	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN			7	1016	+			207					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Silent	SNP	ENST00000355870.3	37	c.552A>T	CCDS5386.1																																																																																				0.413	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		27	71	0	0	0	0.693898	0	27	71					T	23775294	A	T	23775294	2	4	69	1	0	0	0	0	0	0	0	1	15295	320	12	5		5	STK31	7	23775294	Silent	SNP	A	TCGA-DJ-A13L-01A-11D-A21Z-08		23775294	135363369	13	1581											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		10	57	0	0	0	0.361761	0	10	57					T	140453136	A	T	140453136	3	4	69	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A13L-01A-11D-A21Z-08	116677842	140453136	18685527	14	1582											
ANGPT2	285	broad.mit.edu	37	chr8	6378718	6378721	+	Frame_Shift_Del	DEL	AGTC	AGTC	-													cagtttgatgtggacatcatAgtcagtaagttattaactgt					rs78729465	byFrequency	TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr8:6378718_6378721delAGTC	ENST00000325203.5	-	4	1251_1254	c.777_780delGACT	c.(775-780)ctgactfs	p.LT259fs	MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000523120.1_Frame_Shift_Del_p.LT259fs|ANGPT2_ENST00000415216.1_Frame_Shift_Del_p.LT259fs|ANGPT2_ENST00000338312.6_Frame_Shift_Del_p.LT207fs			O15123	ANGP2_HUMAN	angiopoietin 2	259					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to growth factor stimulus (GO:0071363)|germ cell development (GO:0007281)|glomerulus vasculature development (GO:0072012)|leukocyte migration (GO:0050900)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of positive chemotaxis (GO:0050928)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|Tie signaling pathway (GO:0048014)	cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		TGGACATCATAGTCAGTAAGTTAT	0.338																																						ENST00000325203.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(775-780)ctfs		angiopoietin 2																																				SO:0001589	frameshift_variant	285				angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding	g.chr8:6378718_6378721delAGTC	AF004327	CCDS5958.1, CCDS47761.1	8p23	2013-02-06			ENSG00000091879	ENSG00000091879		"Fibrinogen C domain containing"	485	protein-coding gene	gene with protein product		601922				9545648	Standard	NM_001147		Approved	Ang2	uc003wqj.4	O15123	OTTHUMG00000090365	ENST00000325203.5:c.777_780delGACT	8.37:g.6378718_6378721delAGTC	ENSP00000314897:p.Leu259fs					ANGPT2_ENST00000415216.1_Frame_Shift_Del_p.LT259fs|ANGPT2_ENST00000338312.6_Frame_Shift_Del_p.LT207fs|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000523120.1_Frame_Shift_Del_p.LT259fs	p.LT259fs			O15123	ANGP2_HUMAN		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)	4	1251_1254	-		Hepatocellular(245;0.0663)	259					A0AV38|A8K205|B7ZLM7|Q9NRR7|Q9P2Y7	Frame_Shift_Del	DEL	ENST00000325203.5	37	c.777_780delGACT	CCDS5958.1																																																																																				0.338	ANGPT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206737.1	NM_001147		12	100						12	100	---	---	---	---	-	6378721	AGTC	-	6378718	7	5	69	1	0	1	0	1	0	0	0	0	611	407	15	0	734	0	ANGPT2	8	6378718	Frame_Shift_Del	DEL	AGTC	TCGA-DJ-A13L-01A-11D-A21Z-08		6378718	139985304	15	1583											
SGK223	157285	broad.mit.edu	37	chr8	8185788	8185788	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgctgttccgggcttggggGagccttgggtccagaagaag	17	8	0	2			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr8:8185788G>A	ENST00000520004.1	-	5	2768	c.2504C>T	c.(2503-2505)tCc>tTc	p.S835F	SGK223_ENST00000330777.4_Missense_Mutation_p.S835F			Q86YV5	SG223_HUMAN		837							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GGGCTTGGGGGAGCCTTGGGT	0.607																																					GBM(34;731 755 10259 33573 33867)	ENST00000520004.1																			0											c.(2503-2505)tCc>tTc									107	117	114					8																	8185788		1959	4130	6089	SO:0001583	missense	0						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8185788G>A																												ENST00000520004.1:c.2504C>T	8.37:g.8185788G>A	ENSP00000428054:p.Ser835Phe					SGK223_ENST00000330777.4_Missense_Mutation_p.S835F	p.S835F			Q86YV5	SG223_HUMAN			5	2768	-			835					Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	c.2504C>T	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.095612	0.56075	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.60171	0.21;0.21	4.97	4.09	0.47781	.	0.202773	0.35207	N	0.003368	T	0.50820	0.1638	L	0.56769	1.78	0.26495	N	0.974867	P	0.46395	0.877	B	0.41723	0.365	T	0.54483	-0.8287	10	0.72032	D	0.01	.	7.0606	0.25123	0.0919:0.3407:0.5674:0.0	.	835	Q86YV5	SG223_HUMAN	F	835	ENSP00000330930:S835F;ENSP00000428054:S835F	ENSP00000330930:S835F	S	-	2	0	AC068353.1	8223198	.	.	0.996000	0.52242	0.948000	0.59901	.	.	1.440000	0.47531	0.563000	0.77884	TCC		0.607	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			35	132	0	0	0	0.788014	0	35	132					A	8185788	G	A	8185788	3	1	69	1	0	0	0	0	1	0	0	0	14210	1174	41	2	1712	2	SGK223	8	8185788	Missense_Mutation	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08	1807070	8185788	138178234	16	1584											
PRKDC	5591	broad.mit.edu	37	chr8	48798637	48798637	+	Silent	SNP	G	G	A													tgggagaagtggatgacgctGccctgtgagctgcccaagga							TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr8:48798637G>A	ENST00000314191.2	-	37	4697	c.4641C>T	c.(4639-4641)ggC>ggT	p.G1547G	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.G1547G	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1548					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GGATGACGCTGCCCTGTGAGC	0.493								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(4639-4641)ggC>ggT	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							70	73	72					8																	48798637		1925	4148	6073	SO:0001819	synonymous_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48798637G>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.4641C>T	8.37:g.48798637G>A						PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.G1547G	p.G1547G	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			37	4697	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1548					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	ENST00000314191.2	37	c.4641C>T																																																																																					0.493	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		14	41	0	0	0	0.435327	0	14	41					A	48798637	G	A	48798637	2	1	69	1	0	0	0	0	0	0	0	1	12521	1306	46	2		2	PRKDC	8	48798637	Silent	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08	40612849	48798637	97565385	17	1585	8	2									
PRKDC	5591	broad.mit.edu	37	chr8	48798638	48798638	+	Missense_Mutation	SNP	C	C	A													gggagaagtggatgacgctgCcctgtgagctgcccaaggac							TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr8:48798638C>A	ENST00000314191.2	-	37	4696	c.4640G>T	c.(4639-4641)gGc>gTc	p.G1547V	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.G1547V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1548					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GATGACGCTGCCCTGTGAGCT	0.493								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(4639-4641)gGc>gTc	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							69	73	72					8																	48798638		1927	4148	6075	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48798638C>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.4640G>T	8.37:g.48798638C>A	ENSP00000313420:p.Gly1547Val					PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.G1547V	p.G1547V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			37	4696	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1548					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.4640G>T		.	.	.	.	.	.	.	.	.	.	C	8.816	0.936489	0.18206	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02525	4.32;4.26	5.5	-0.139	0.13460	.	0.809750	0.11564	N	0.551407	T	0.01765	0.0056	N	0.08118	0	0.09310	N	1	B;B	0.22983	0.078;0.009	B;B	0.21546	0.035;0.016	T	0.47586	-0.9106	10	0.39692	T	0.17	.	8.1988	0.31413	0.0:0.5167:0.1097:0.3736	.	1547;1548	E7EUY0;P78527	.;PRKDC_HUMAN	V	1547	ENSP00000313420:G1547V;ENSP00000345182:G1547V	ENSP00000313420:G1547V	G	-	2	0	PRKDC	48961191	0.037000	0.19845	0.002000	0.10522	0.001000	0.01503	0.261000	0.18442	0.023000	0.15187	0.643000	0.83706	GGC		0.493	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		14	41	1	0	4.36969e-10	0.435327	5.00694e-10	14	41					A	48798638	C	A	48798638	3	1	69	1	0	0	0	0	1	0	0	0	12521	739	26	4	7947	4	PRKDC	8	48798638	Missense_Mutation	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08	1	48798638	97565384	18	1586	8	2									
TYRP1	7306	broad.mit.edu	37	chr9	12695656	12695656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggggccagatggcaacaCgccacaatttgagaacattt	10	10	0	2			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr9:12695656C>T	ENST00000388918.5	+	3	656	c.527C>T	c.(526-528)aCg>aTg	p.T176M	TYRP1_ENST00000381137.2_5'UTR|TYRP1_ENST00000381136.2_5'Flank	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	176					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		GATGGCAACACGCCACAATTT	0.448									Oculocutaneous Albinism																													ENST00000388918.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22						c.(526-528)aCg>aTg		tyrosinase-related protein 1							114	108	110					9																	12695656		2203	4300	6503	SO:0001583	missense	7306	Oculocutaneous Albinism	Familial Cancer Database		melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	g.chr9:12695656C>T	L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.527C>T	9.37:g.12695656C>T	ENSP00000373570:p.Thr176Met					TYRP1_ENST00000381137.2_5'UTR	p.T176M	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN		GBM - Glioblastoma multiforme(50;9.85e-06)	3	656	+		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)	176					P78468|P78469|Q13721|Q15679	Missense_Mutation	SNP	ENST00000388918.5	37	c.527C>T	CCDS34990.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124942	0.56613	.	.	ENSG00000107165	ENST00000388918	D	0.84298	-1.83	5.5	4.61	0.57282	Uncharacterised domain, di-copper centre (2);	0.241758	0.47852	D	0.000218	D	0.92215	0.7531	M	0.86097	2.795	0.80722	D	1	D	0.89917	1.0	D	0.65874	0.939	D	0.93299	0.6675	10	0.66056	D	0.02	-18.6214	14.7357	0.69414	0.0:0.9299:0.0:0.0701	.	176	P17643	TYRP1_HUMAN	M	176	ENSP00000373570:T176M	ENSP00000373570:T176M	T	+	2	0	TYRP1	12685656	0.889000	0.30405	0.848000	0.33437	0.950000	0.60333	1.799000	0.38824	1.456000	0.47831	0.467000	0.42956	ACG		0.448	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550		24	79	0	0	0	0.639603	0	24	79					T	12695656	C	T	12695656	3	4	69	1	0	0	0	0	1	0	0	0	16813	536	19	1	533	1	TYRP1	9	12695656	Missense_Mutation	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08		12695656	128517775	19	1587											
DOLK	22845	broad.mit.edu	37	chr9	131709562	131709562	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccccaggccccggggccggAgatgggcactctcgggtcat	16	15	2	1			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr9:131709562A>G	ENST00000372586.3	-	1	336	c.21T>C	c.(19-21)tcT>tcC	p.S7S	RP11-101E3.5_ENST00000482796.1_Intron|NUP188_ENST00000372577.2_5'Flank	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	7					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|dolichyl monophosphate biosynthetic process (GO:0043048)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichol kinase activity (GO:0004168)			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						CCGGGGCCGGAGATGGGCACT	0.667																																						ENST00000372586.3																			0				breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(19-21)tcT>tcC		dolichol kinase																																				SO:0001819	synonymous_variant	22845				dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity	g.chr9:131709562A>G	AB029017	CCDS6915.1	9q34.13	2014-09-17	2007-02-09	2007-02-09	ENSG00000175283	ENSG00000175283			23406	protein-coding gene	gene with protein product	"dolichol kinase 1"	610746	"transmembrane protein 15"	TMEM15		12975309, 16923818	Standard	NM_014908		Approved	KIAA1094, DK1	uc004bwr.3	Q9UPQ8	OTTHUMG00000020765	ENST00000372586.3:c.21T>C	9.37:g.131709562A>G						RP11-101E3.5_ENST00000482796.1_Intron	p.S7S	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN			1	336	-			7					Q5SRE6	Silent	SNP	ENST00000372586.3	37	c.21T>C	CCDS6915.1																																																																																				0.667	DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054515.1	NM_014908		11	27	0	0	0	0.411799	0	11	27					G	131709562	A	G	131709562	2	3	69	1	0	0	0	0	0	0	0	1	4703	291	11	3		3	DOLK	9	131709562	Silent	SNP	A	TCGA-DJ-A13L-01A-11D-A21Z-08	119013906	131709562	9503869	20	1588											
DUSP5	1847	broad.mit.edu	37	chr10	112262508	112262508	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	agactttctactcggaatatCctgagtgttgcgtggatgta	11	7	1	2			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr10:112262508C>G	ENST00000369583.3	+	2	693	c.409C>G	c.(409-411)Cct>Gct	p.P137A	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	137	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				endoderm formation (GO:0001706)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		CTCGGAATATCCTGAGTGTTG	0.423																																						ENST00000369583.3																			0				kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13						c.(409-411)Cct>Gct		dual specificity phosphatase 5							122	117	119					10																	112262508		2203	4300	6503	SO:0001583	missense	1847				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr10:112262508C>G	U16996	CCDS7566.1	10q25	2011-06-09			ENSG00000138166	ENSG00000138166		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3071	protein-coding gene	gene with protein product		603069				7806236	Standard	NM_004419		Approved	HVH3	uc001kzd.3	Q16690	OTTHUMG00000019040	ENST00000369583.3:c.409C>G	10.37:g.112262508C>G	ENSP00000358596:p.Pro137Ala					DUSP5_ENST00000468749.1_3'UTR	p.P137A	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)	2	693	+		Breast(234;0.0848)	137			Rhodanese.		Q12997|Q5T603	Missense_Mutation	SNP	ENST00000369583.3	37	c.409C>G	CCDS7566.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227502	0.79576	.	.	ENSG00000138166	ENST00000369583	T	0.47869	0.83	6.02	6.02	0.97574	Rhodanese-like (4);	0.000000	0.85682	D	0.000000	T	0.69369	0.3103	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.68326	-0.5438	10	0.59425	D	0.04	.	19.5352	0.95251	0.0:1.0:0.0:0.0	.	137	Q16690	DUS5_HUMAN	A	137	ENSP00000358596:P137A	ENSP00000358596:P137A	P	+	1	0	DUSP5	112252498	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	5.625000	0.67770	2.850000	0.98022	0.650000	0.86243	CCT		0.423	DUSP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050333.1	NM_004419		17	74	0	0	0	0.539581	0	17	74					G	112262508	C	G	112262508	3	3	69	1	0	0	0	0	1	0	0	0	4828	855	30	4	415	4	DUSP5	10	112262508	Missense_Mutation	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08		112262508	23272239	21	1589											
PHRF1	57661	broad.mit.edu	37	chr11	587445	587445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattacttctgcctggactGcattgtcgaatggtccaagg	10	11	1	0			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr11:587445G>A	ENST00000264555.5	+	4	529	c.401G>A	c.(400-402)tGc>tAc	p.C134Y	PHRF1_ENST00000533464.1_Missense_Mutation_p.C130Y|PHRF1_ENST00000416188.2_Missense_Mutation_p.C134Y|PHRF1_ENST00000413872.2_Missense_Mutation_p.C133Y	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	134					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TGCCTGGACTGCATTGTCGAA	0.557																																						ENST00000264555.5																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(400-402)tGc>tAc		PHD and ring finger domains 1							120	125	124					11																	587445		2112	4203	6315	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:587445G>A	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	24351	protein-coding gene	gene with protein product	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.401G>A	11.37:g.587445G>A	ENSP00000264555:p.Cys134Tyr					PHRF1_ENST00000416188.2_Missense_Mutation_p.C134Y|PHRF1_ENST00000533464.1_Missense_Mutation_p.C130Y|PHRF1_ENST00000413872.2_Missense_Mutation_p.C133Y	p.C134Y	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN			4	529	+			134					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.401G>A		.	.	.	.	.	.	.	.	.	.	G	19.60	3.858705	0.71834	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	D;D;D;D	0.99701	-6.45;-6.45;-6.45;-6.45	4.08	4.08	0.47627	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.429595	0.17475	N	0.172927	D	0.99840	0.9927	H	0.97783	4.075	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;0.999;0.999;1.0	D	0.96881	0.9646	10	0.87932	D	0	-21.3491	15.206	0.73180	0.0:0.0:1.0:0.0	.	130;133;134;134	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	Y	134;133;134;130	ENSP00000264555:C134Y;ENSP00000388589:C133Y;ENSP00000410626:C134Y;ENSP00000431870:C130Y	ENSP00000264555:C134Y	C	+	2	0	PHRF1	577445	1.000000	0.71417	0.998000	0.56505	0.726000	0.41606	9.168000	0.94781	2.100000	0.63781	0.561000	0.74099	TGC		0.557	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		4	89	0	0	0	0.217242	0	4	89					A	587445	G	A	587445	3	1	69	1	0	0	0	0	1	0	0	0	11861	1319	46	2	411	2	PHRF1	11	587445	Missense_Mutation	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08		587445	134419071	22	1590											
SPTY2D1	144108	broad.mit.edu	37	chr11	18633034	18633034	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttatgcttacctctttgcttCttccttctgctgctctttcc	4	14	4	0			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr11:18633034C>T	ENST00000336349.5	-	5	2189	c.1954G>A	c.(1954-1956)Gaa>Aaa	p.E652K	SPTY2D1-AS1_ENST00000501599.2_RNA	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	652										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CTCTTTGCTTCTTCCTTCTGC	0.353																																						ENST00000336349.5																			0				breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						c.(1954-1956)Gaa>Aaa		SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)							227	202	211					11																	18633034		2198	4293	6491	SO:0001583	missense	144108							g.chr11:18633034C>T	BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.1954G>A	11.37:g.18633034C>T	ENSP00000337991:p.Glu652Lys						p.E652K	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN			5	2189	-			652					Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	ENST00000336349.5	37	c.1954G>A	CCDS31441.1	.	.	.	.	.	.	.	.	.	.	C	36	5.625370	0.96671	.	.	ENSG00000179119	ENST00000336349	T	0.70516	-0.49	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.87752	0.6256	M	0.89715	3.055	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.89625	0.3851	10	0.87932	D	0	-17.4427	19.6819	0.95967	0.0:1.0:0.0:0.0	.	652	Q68D10	SPT2_HUMAN	K	652	ENSP00000337991:E652K	ENSP00000337991:E652K	E	-	1	0	SPTY2D1	18589610	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.352000	0.79404	2.656000	0.90262	0.563000	0.77884	GAA		0.353	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285		8	82	0	0	0	0.335167	0	8	82					T	18633034	C	T	18633034	3	4	69	1	0	0	0	0	1	0	0	0	15125	922	32	2	111	2	SPTY2D1	11	18633034	Missense_Mutation	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08	18045589	18633034	116373482	23	1591											
OR4C11	219429	broad.mit.edu	37	chr11	55371297	55371297	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtaagtgtccatgcaggcaaGtttcaacaagggctgcaaat	11	8	1	0			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr11:55371297G>T	ENST00000302231.4	-	1	577	c.553C>A	c.(553-555)Ctt>Att	p.L185I		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						ATGCAGGCAAGTTTCAACAAG	0.393																																						ENST00000302231.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						c.(553-555)Ctt>Att		olfactory receptor, family 4, subfamily C, member 11							84	69	75					11																	55371297		2177	4012	6189	SO:0001583	missense	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371297G>T	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"GPCR / Class A : Olfactory receptors"	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.553C>A	11.37:g.55371297G>T	ENSP00000306651:p.Leu185Ile						p.L185I	NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN			1	577	-			185					B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	37	c.553C>A	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.213082	0.58452	.	.	ENSG00000172188	ENST00000302231	T	0.00379	7.65	4.34	1.41	0.22369	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39407	U	0.001377	T	0.00608	0.0020	M	0.67953	2.075	0.22226	N	0.999278	D	0.89917	1.0	D	0.91635	0.999	T	0.49542	-0.8929	10	0.87932	D	0	.	4.5219	0.11962	0.275:0.0:0.5663:0.1587	.	185	Q6IEV9	OR4CB_HUMAN	I	185	ENSP00000306651:L185I	ENSP00000306651:L185I	L	-	1	0	OR4C11	55127873	0.966000	0.33281	0.999000	0.59377	0.995000	0.86356	1.622000	0.36997	0.581000	0.29539	0.478000	0.44815	CTT		0.393	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		18	77	1	0	6.33239e-15	0.592651	7.41024e-15	18	77					T	55371297	G	T	55371297	3	4	69	1	0	0	0	0	1	0	0	0	11045	1029	36	4	381	4	OR4C11	11	55371297	Missense_Mutation	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08	36738263	55371297	79635219	24	1592											
KDM2A	22992	broad.mit.edu	37	chr11	67018081	67018081	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggagaggaggaggaagaGgaggaggaggaggaggaaga	26	0	0	3			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr11:67018081G>A	ENST00000529006.2	+	17	3026	c.2580G>A	c.(2578-2580)gaG>gaA	p.E860E	KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000308783.5_Silent_p.E318E|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000530342.1_Silent_p.E421E	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	860					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						aggaggaagaggaggaggagg	0.657																																						ENST00000529006.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						c.(2578-2580)gaG>gaA		lysine (K)-specific demethylase 2A							23	27	26					11																	67018081		2111	4226	6337	SO:0001819	synonymous_variant	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:67018081G>A	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13606	protein-coding gene	gene with protein product	"F-box protein FBL11", "jumonji C domain-containing histone demethylase 1A"	605657	"F-box and leucine-rich repeat protein 11"	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.2580G>A	11.37:g.67018081G>A						KDM2A_ENST00000308783.5_Silent_p.E318E|KDM2A_ENST00000530342.1_Silent_p.E421E|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Intron	p.E860E	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN			17	3026	+			860					D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Silent	SNP	ENST00000529006.2	37	c.2580G>A	CCDS44657.1																																																																																				0.657	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		3	15	0	0	0	0.115264	0	3	15					A	67018081	G	A	67018081	2	1	69	1	0	0	0	0	0	0	0	1	8124	991	35	2		2	KDM2A	11	67018081	Silent	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08	11646784	67018081	67988435	25	1593											
KIF21A	55605	broad.mit.edu	37	chr12	39716485	39716485	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttacatgctgcctatcttaGaaggtaagccaggtggggga	13	8	1	1			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr12:39716485G>A	ENST00000361418.5	-	27	3671	c.3656C>T	c.(3655-3657)tCt>tTt	p.S1219F	KIF21A_ENST00000361961.3_Missense_Mutation_p.S1206F|KIF21A_ENST00000547745.1_5'Flank|KIF21A_ENST00000395670.3_Missense_Mutation_p.S1219F|KIF21A_ENST00000544797.2_Missense_Mutation_p.S1199F|KIF21A_ENST00000541463.2_Missense_Mutation_p.S1183F			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1219					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GCCTATCTTAGAAGGTAAGCC	0.403																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(3655-3657)tCt>tTt		kinesin family member 21A							113	104	107					12																	39716485		2203	4300	6503	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39716485G>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.3656C>T	12.37:g.39716485G>A	ENSP00000354878:p.Ser1219Phe					KIF21A_ENST00000541463.2_Missense_Mutation_p.S1183F|KIF21A_ENST00000544797.2_Missense_Mutation_p.S1199F|KIF21A_ENST00000361961.3_Missense_Mutation_p.S1206F|KIF21A_ENST00000361418.5_Missense_Mutation_p.S1219F	p.S1219F			Q7Z4S6	KI21A_HUMAN			26	4075	-		Lung NSC(34;0.179)|all_lung(34;0.213)	1219					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.3656C>T	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396889	0.83120	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000545778;ENST00000551264;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T;T	0.71461	-0.53;-0.52;0.27;-0.57;-0.43;-0.53	5.09	5.09	0.68999	.	0.245855	0.28977	N	0.013525	T	0.81230	0.4779	M	0.65498	2.005	0.58432	D	0.999998	P;P;P;P;P;D	0.55385	0.892;0.514;0.773;0.892;0.928;0.971	P;B;P;P;P;P	0.58660	0.598;0.33;0.466;0.518;0.698;0.843	T	0.83304	-0.0026	10	0.66056	D	0.02	.	18.5275	0.90978	0.0:0.0:1.0:0.0	.	1199;1183;1219;1206;1219;266	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3;F5H0V8	.;.;KI21A_HUMAN;.;.;.	F	1206;1219;1219;266;260;1199;1219;1183	ENSP00000354851:S1206F;ENSP00000379029:S1219F;ENSP00000448792:S260F;ENSP00000445606:S1199F;ENSP00000354878:S1219F;ENSP00000438075:S1183F	ENSP00000344501:S1219F	S	-	2	0	KIF21A	38002752	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.318000	0.79029	2.358000	0.79984	0.655000	0.94253	TCT		0.403	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		8	84	0	0	0	0.361761	0	8	84					A	39716485	G	A	39716485	3	1	69	1	0	0	0	0	1	0	0	0	8288	942	33	2	1416	2	KIF21A	12	39716485	Missense_Mutation	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08		39716485	94135410	26	1594											
TBX3	6926	broad.mit.edu	37	chr12	115120663	115120663	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggtgccccgcttgtgaaactGatcccaaagttctttagcct	9	12	1	2			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr12:115120663G>A	ENST00000257566.3	-	1	732	c.343C>T	c.(343-345)Cag>Tag	p.Q115*	TBX3_ENST00000349155.2_Nonsense_Mutation_p.Q115*	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	115					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|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)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		TTGTGAAACTGATCCCAAAGT	0.572																																						ENST00000349155.2																			0				breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(343-345)Cag>Tag		T-box 3							52	54	54					12																	115120663		2202	4300	6502	SO:0001587	stop_gained	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115120663G>A	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"T-boxes"	11602	protein-coding gene	gene with protein product		601621	"ulnar mammary syndrome"	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.343C>T	12.37:g.115120663G>A	ENSP00000257566:p.Gln115*					TBX3_ENST00000257566.3_Nonsense_Mutation_p.Q115*	p.Q115*	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	1	1306	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		115					Q8TB20|Q9UKF8	Nonsense_Mutation	SNP	ENST00000257566.3	37	c.343C>T	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	G	47	13.060166	0.99716	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	.	.	.	5.48	5.48	0.80851	.	0.056069	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	19.3471	0.94367	0.0:0.0:1.0:0.0	.	.	.	.	X	115	.	ENSP00000257566:Q115X	Q	-	1	0	TBX3	113605046	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.566000	0.86566	0.655000	0.94253	CAG		0.572	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		7	64	0	0	0	0.248553	0	7	64					A	115120663	G	A	115120663	4	1	69	1	0	0	0	0	0	1	0	0	15656	1299	45	2	1920	2	TBX3	12	115120663	Nonsense_Mutation	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08	75404178	115120663	18731232	27	1595											
POLE	5426	broad.mit.edu	37	chr12	133220461	133220461	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgatgtctggcgctgacaGctcagcgttgatctcgttga	12	11	3	3			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr12:133220461G>A	ENST00000320574.5	-	33	4295	c.4252C>T	c.(4252-4254)Ctg>Ttg	p.L1418L	POLE_ENST00000434528.3_5'Flank|POLE_ENST00000535270.1_Silent_p.L1391L	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1418					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GGCGCTGACAGCTCAGCGTTG	0.542								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(4252-4254)Ctg>Ttg	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							203	167	179					12																	133220461		2203	4300	6503	SO:0001819	synonymous_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133220461G>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4252C>T	12.37:g.133220461G>A						POLE_ENST00000535270.1_Silent_p.L1391L	p.L1418L	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	33	4295	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1418					Q13533|Q86VH9	Silent	SNP	ENST00000320574.5	37	c.4252C>T	CCDS9278.1																																																																																				0.542	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		3	41	0	0	0	0.115264	0	3	41					A	133220461	G	A	133220461	2	1	69	1	0	0	0	0	0	0	0	1	12196	962	34	2		2	POLE	12	133220461	Silent	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08	18099798	133220461	631434	28	1596											
PTGR2	145482	broad.mit.edu	37	chr14	74340912	74340912	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttctggatggaaatagccttGaaaaggtgatatatatatga	10	3	1	3			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr14:74340912G>A	ENST00000555661.1	+	4	488	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	PTGR2_ENST00000553813.1_Intron|RP5-1021I20.4_ENST00000556551.2_Missense_Mutation_p.E115K|PTGR2_ENST00000555228.1_Missense_Mutation_p.E115K|PTGR2_ENST00000267568.4_Missense_Mutation_p.E115K			Q8N8N7	PTGR2_HUMAN	prostaglandin reductase 2	115					prostaglandin metabolic process (GO:0006693)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9					Indomethacin(DB00328)	AAATAGCCTTGAAAAGGTGAT	0.328																																					Esophageal Squamous(98;1155 1417 16452 47043 47872)	ENST00000555661.1																			0				NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9						c.(343-345)Gaa>Aaa		prostaglandin reductase 2							63	65	65					14																	74340912		2203	4300	6503	SO:0001583	missense	145482				prostaglandin metabolic process		15-oxoprostaglandin 13-oxidase activity|zinc ion binding	g.chr14:74340912G>A	AK096410	CCDS9820.1	14q24.1-q24.2	2008-06-04	2008-06-02	2008-06-03		ENSG00000140043			20149	protein-coding gene	gene with protein product		608642	"zinc binding alcohol dehydrogenase domain containing 1"	ZADH1		17449869	Standard	NM_152444		Approved	FLJ39091	uc001xow.3	Q8N8N7		ENST00000555661.1:c.343G>A	14.37:g.74340912G>A	ENSP00000452280:p.Glu115Lys					PTGR2_ENST00000555228.1_Missense_Mutation_p.E115K|RP5-1021I20.4_ENST00000553813.1_Intron|PTGR2_ENST00000267568.4_Missense_Mutation_p.E115K|PTGR2_ENST00000554885.1_Intron	p.E115K			Q8N8N7	PTGR2_HUMAN			4	488	+			115					Q3L8A4|Q6MZH8	Missense_Mutation	SNP	ENST00000555661.1	37	c.343G>A	CCDS9820.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064908	0.36470	.	.	ENSG00000140043	ENST00000555228;ENST00000555661;ENST00000555976;ENST00000267568	T;T;T;T	0.43294	1.0;1.0;0.95;1.0	5.81	5.81	0.92471	GroES-like (1);	0.168811	0.52532	D	0.000062	T	0.35098	0.0920	L	0.35644	1.08	0.37343	D	0.910486	B	0.22480	0.07	B	0.21151	0.033	T	0.19647	-1.0299	10	0.29301	T	0.29	-10.824	15.4226	0.75025	0.0:0.2436:0.7564:0.0	.	115	Q8N8N7	PTGR2_HUMAN	K	115	ENSP00000450975:E115K;ENSP00000452280:E115K;ENSP00000450517:E115K;ENSP00000267568:E115K	ENSP00000267568:E115K	E	+	1	0	PTGR2	73410665	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	4.097000	0.57741	2.746000	0.94184	0.655000	0.94253	GAA		0.328	PTGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412575.1			9	77	0	0	0	0.38729	0	9	77					A	74340912	G	A	74340912	3	1	69	1	0	0	0	0	1	0	0	0	12754	1291	45	2	353	2	PTGR2	14	74340912	Missense_Mutation	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08		74340912	33008628	29	1597											
AHNAK2	113146	broad.mit.edu	37	chr14	105416999	105416999	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cagcttggggcccttaacatCtatctggggccccttgaggt	12	12	2	1			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr14:105416999C>G	ENST00000333244.5	-	7	4908	c.4789G>C	c.(4789-4791)Gat>Cat	p.D1597H	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1597						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)			CCCTTAACATCTATCTGGGGC	0.607																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(4789-4791)Gat>Cat		AHNAK nucleoprotein 2							107	119	115					14																	105416999		1803	4019	5822	SO:0001583	missense	113146					nucleus		g.chr14:105416999C>G	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.4789G>C	14.37:g.105416999C>G	ENSP00000353114:p.Asp1597His					AHNAK2_ENST00000557457.1_Intron	p.D1597H	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	4908	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1597					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.4789G>C	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	7.019	0.558251	0.13436	.	.	ENSG00000185567	ENST00000333244	T	0.01981	4.52	2.4	2.4	0.29515	.	.	.	.	.	T	0.11024	0.0269	M	0.77616	2.38	0.09310	N	1	D	0.89917	1.0	D	0.73380	0.98	T	0.03374	-1.1043	9	0.54805	T	0.06	-15.948	11.3561	0.49617	0.0:0.797:0.203:0.0	.	1597	Q8IVF2	AHNK2_HUMAN	H	1597	ENSP00000353114:D1597H	ENSP00000353114:D1597H	D	-	1	0	AHNAK2	104488044	0.000000	0.05858	0.030000	0.17652	0.001000	0.01503	-0.246000	0.08878	1.672000	0.50884	0.485000	0.47835	GAT		0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		7	89	0	0	0	0.307466	0	7	89					G	105416999	C	G	105416999	3	3	69	1	0	0	0	0	1	0	0	0	415	913	32	4	12602	4	AHNAK2	14	105416999	Missense_Mutation	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08	31076087	105416999	1932541	30	1598											
C15orf63	25764	broad.mit.edu	37	chr15	44093955	44093955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagcagaacgcagtttgcGggaacacatgggcaacgtgg	15	9	0	1			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr15:44093955G>A	ENST00000406925.1	+	5	4452	c.341G>A	c.(340-342)cGg>cAg	p.R114Q	HYPK_ENST00000458412.1_3'UTR|SERF2_ENST00000600633.1_Missense_Mutation_p.R114Q|SERINC4_ENST00000319327.6_5'Flank|SERINC4_ENST00000299969.6_5'Flank|RP11-296A16.1_ENST00000417761.2_5'Flank|SERINC4_ENST00000249714.3_5'Flank|HYPK_ENST00000442995.2_Missense_Mutation_p.R114Q|SERF2_ENST00000594896.1_Missense_Mutation_p.R160Q			Q9NX55	HYPK_HUMAN	huntingtin interacting protein K	114						cytoplasm (GO:0005737)|nucleus (GO:0005634)							all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;8.1e-07)		CGCAGTTTGCGGGAACACATG	0.428																																						ENST00000406925.1																			0											c.(340-342)cGg>cAg		huntingtin interacting protein K							96	90	92					15																	44093955		2198	4298	6496	SO:0001583	missense	25764							g.chr15:44093955G>A	AF049613	CCDS10104.1	15q14	2012-10-08	2012-10-08	2012-10-08	ENSG00000242028	ENSG00000242028			18418	protein-coding gene	gene with protein product	"Huntingtin yeast partner K"	612784	"chromosome 15 open reading frame 63"	C15orf63		9700202, 20154145	Standard	NM_016400		Approved	HSPC136, FLJ20431	uc001ztf.3	Q9NX55	OTTHUMG00000060146	ENST00000406925.1:c.341G>A	15.37:g.44093955G>A	ENSP00000384474:p.Arg114Gln					SERF2_ENST00000594896.1_Missense_Mutation_p.R160Q|HYPK_ENST00000458412.1_3'UTR|HYPK_ENST00000442995.2_Missense_Mutation_p.R114Q|SERF2_ENST00000600633.1_Missense_Mutation_p.R114Q	p.R114Q						GBM - Glioblastoma multiforme(94;8.1e-07)	5	4452	+		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)						C9JKJ0|O75408|Q8WUW8|Q9P024	Missense_Mutation	SNP	ENST00000406925.1	37	c.341G>A	CCDS10104.1	.	.	.	.	.	.	.	.	.	.	G	36	5.618073	0.96649	.	.	ENSG00000242028	ENST00000406925;ENST00000442995	T;T	0.60548	0.18;0.18	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.64918	0.2642	M	0.76170	2.325	0.80722	D	1	D	0.62365	0.991	P	0.45753	0.492	T	0.69591	-0.5104	10	0.51188	T	0.08	-16.0543	19.2408	0.93881	0.0:0.0:1.0:0.0	.	114	Q9NX55	HYPK_HUMAN	Q	114	ENSP00000384474:R114Q;ENSP00000401155:R114Q	ENSP00000384474:R114Q	R	+	2	0	C15orf63	41881247	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.601000	0.98297	2.785000	0.95823	0.655000	0.94253	CGG		0.428	HYPK-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133876.3	NM_016400		11	61	0	0	0	0.411799	0	11	61					A	44093955	G	A	44093955	3	1	69	1	0	0	0	0	1	0	0	0	1809	1116	39	1	355	1	C15orf63	15	44093955	Missense_Mutation	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08		44093955	58437437	31	1599											
WDR76	79968	broad.mit.edu	37	chr15	44120432	44120432	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggcagaatccacgctgcaAaattcatcctcagctgttca	7	12	3	1			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr15:44120432A>G	ENST00000263795.6	+	2	400	c.330A>G	c.(328-330)caA>caG	p.Q110Q	WDR76_ENST00000381246.2_Silent_p.Q46Q	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	110										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		CCACGCTGCAAAATTCATCCT	0.408																																						ENST00000263795.6																			0				breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20						c.(328-330)caA>caG		WD repeat domain 76							88	87	87					15																	44120432		2198	4298	6496	SO:0001819	synonymous_variant	79968							g.chr15:44120432A>G	AK023035	CCDS10106.1, CCDS53938.1	15q15.3	2013-01-09			ENSG00000092470	ENSG00000092470		"WD repeat domain containing"	25773	protein-coding gene	gene with protein product						12860291	Standard	NM_024908		Approved	FLJ12973	uc001zti.2	Q9H967	OTTHUMG00000060143	ENST00000263795.6:c.330A>G	15.37:g.44120432A>G						WDR76_ENST00000381246.2_Silent_p.Q46Q	p.Q110Q	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)	2	400	+		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)	110					A0MNP5|Q05CI4	Silent	SNP	ENST00000263795.6	37	c.330A>G	CCDS10106.1																																																																																				0.408	WDR76-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133482.2	NM_024908		24	69	0	0	0	0.681144	0	24	69					G	44120432	A	G	44120432	2	3	69	1	0	0	0	0	0	0	0	1	17323	11	1	3		3	WDR76	15	44120432	Silent	SNP	A	TCGA-DJ-A13L-01A-11D-A21Z-08	26477	44120432	58410960	32	1600											
SPATA5L1	79029	broad.mit.edu	37	chr15	45695663	45695663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggttgtgggagccactaacCggccggacgctctagaccca	13	13	1	1			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr15:45695663C>T	ENST00000305560.6	+	1	1135	c.1036C>T	c.(1036-1038)Cgg>Tgg	p.R346W	GATM_ENST00000458245.5_5'Flank|SPATA5L1_ENST00000559860.1_Missense_Mutation_p.R346W	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	346						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		AGCCACTAACCGGCCGGACGC	0.682																																						ENST00000305560.6																			0				kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1036-1038)Cgg>Tgg		spermatogenesis associated 5-like 1							28	34	32					15																	45695663		2170	4254	6424	SO:0001583	missense	79029					cytoplasm	ATP binding|nucleoside-triphosphatase activity	g.chr15:45695663C>T	AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"ATPases / AAA-type"	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.1036C>T	15.37:g.45695663C>T	ENSP00000305494:p.Arg346Trp					SPATA5L1_ENST00000559860.1_Missense_Mutation_p.R346W	p.R346W	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)	1	1135	+		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	346					C9JHR5|Q9H8W7|Q9HA41	Missense_Mutation	SNP	ENST00000305560.6	37	c.1036C>T	CCDS10123.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464220	0.63513	.	.	ENSG00000171763	ENST00000305560	D	0.94457	-3.43	4.81	1.7	0.24286	ATPase, AAA-type, conserved site (1);ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.066071	0.64402	D	0.000015	D	0.98108	0.9376	H	0.98238	4.18	0.36312	D	0.857738	D	0.89917	1.0	D	0.80764	0.994	D	0.99926	1.1283	10	0.87932	D	0	-25.4088	13.3947	0.60843	0.7076:0.2924:0.0:0.0	.	346	Q9BVQ7	SPA5L_HUMAN	W	346	ENSP00000305494:R346W	ENSP00000305494:R346W	R	+	1	2	SPATA5L1	43482955	0.997000	0.39634	0.998000	0.56505	0.709000	0.40893	1.484000	0.35508	0.165000	0.19558	-0.284000	0.09977	CGG		0.682	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254218.1	NM_024063		3	66	0	0	0	0.115264	0	3	66					T	45695663	C	T	45695663	3	4	69	1	0	0	0	0	1	0	0	0	15011	643	23	1	1038	1	SPATA5L1	15	45695663	Missense_Mutation	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08	1575231	45695663	56835729	33	1601											
FBN1	2200	broad.mit.edu	37	chr15	48802244	48802244	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tagtatactattattaccttCacagttcttcccatctcgtg	4	11	3	0			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr15:48802244C>T	ENST00000316623.5	-	14	2166	c.1711G>A	c.(1711-1713)Gaa>Aaa	p.E571K		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	571	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTATTACCTTCACAGTTCTTC	0.408																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139	GRCh37	CM020134	FBN1	M		c.(1711-1713)Gaa>Aaa		fibrillin 1							94	88	90					15																	48802244		2197	4296	6493	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48802244C>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.1711G>A	15.37:g.48802244C>T	ENSP00000325527:p.Glu571Lys						p.E571K	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	14	2166	-		all_lung(180;0.00279)	571			EGF-like 8; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.1711G>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473723	0.63737	.	.	ENSG00000166147	ENST00000316623	D	0.87650	-2.28	5.5	5.5	0.81552	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.052000	0.85682	D	0.000000	D	0.86226	0.5882	L	0.60957	1.885	0.80722	D	1	B	0.22003	0.063	B	0.22386	0.039	T	0.82446	-0.0453	10	0.49607	T	0.09	.	18.3167	0.90224	0.0:1.0:0.0:0.0	.	571	P35555	FBN1_HUMAN	K	571	ENSP00000325527:E571K	ENSP00000325527:E571K	E	-	1	0	FBN1	46589536	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.586000	0.46119	2.736000	0.93811	0.591000	0.81541	GAA		0.408	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			6	56	0	0	0	0.217242	0	6	56					T	48802244	C	T	48802244	3	4	69	1	0	0	0	0	1	0	0	0	5702	835	29	2	7116	2	FBN1	15	48802244	Missense_Mutation	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08	3106581	48802244	53729148	34	1602											
SECISBP2L	9728	broad.mit.edu	37	chr15	49320810	49320810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggatgctcttcttctcctgCccttggacttccagagcatt	9	13	3	1			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr15:49320810C>T	ENST00000559471.1	-	5	997	c.734G>A	c.(733-735)gGc>gAc	p.G245D	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.G245D	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	245							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TCTTCTCCTGCCCTTGGACTT	0.473																																						ENST00000559471.1																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						c.(733-735)gGc>gAc		SECIS binding protein 2-like							140	130	134					15																	49320810		2197	4295	6492	SO:0001583	missense	9728							g.chr15:49320810C>T	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.734G>A	15.37:g.49320810C>T	ENSP00000453854:p.Gly245Asp					SECISBP2L_ENST00000261847.3_Missense_Mutation_p.G245D	p.G245D	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN			5	997	-			245					Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	c.734G>A	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644288	0.67244	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	D	0.89123	-2.47	5.78	5.78	0.91487	.	0.278962	0.41500	D	0.000865	D	0.82728	0.5100	L	0.27053	0.805	0.32517	N	0.536809	P;P	0.50272	0.933;0.763	P;B	0.44860	0.462;0.361	D	0.83615	0.0136	10	0.25751	T	0.34	.	11.3197	0.49415	0.1412:0.7226:0.1362:0.0	.	245;245	Q93073;Q93073-2	SBP2L_HUMAN;.	D	245	ENSP00000261847:G245D	ENSP00000261847:G245D	G	-	2	0	SECISBP2L	47108102	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	2.838000	0.48199	2.732000	0.93576	0.655000	0.94253	GGC		0.473	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		7	93	0	0	0	0.27861	0	7	93					T	49320810	C	T	49320810	3	4	69	1	0	0	0	0	1	0	0	0	14007	739	26	2	2488	2	SECISBP2L	15	49320810	Missense_Mutation	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08	518566	49320810	53210582	35	1603											
TIGD7	91151	broad.mit.edu	37	chr16	3349586	3349587	+	Frame_Shift_Ins	INS	-	-	C													tctcttcaagttgcttccatINSctatacagccgtttgcagct							TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr16:3349586_3349587insC	ENST00000396862.1	-	2	2856_2857	c.1028_1029insG	c.(1027-1029)agafs	p.R343fs	TIGD7_ENST00000268674.2_Frame_Shift_Ins_p.R343fs|TIGD7_ENST00000574598.1_5'Flank	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	343	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						GTTGCTTCCATCTATACAGCCG	0.361																																						ENST00000396862.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						c.(1027-1029)atgfs		tigger transposable element derived 7																																				SO:0001589	frameshift_variant	91151				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr16:3349586_3349587insC	AF251050	CCDS10500.1	16p13.11	2008-02-05			ENSG00000140993	ENSG00000140993			18331	protein-coding gene	gene with protein product		612969					Standard	NM_033208		Approved	Sancho	uc002cus.3	Q6NT04	OTTHUMG00000129325	ENST00000396862.1:c.1029dupG	16.37:g.3349587_3349587dupC	ENSP00000380071:p.Arg343fs					TIGD7_ENST00000268674.2_Frame_Shift_Ins_p.M343fs	p.M343fs	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN			2	2856_2857	-			343			DDE.		Q9BXZ0	Frame_Shift_Ins	INS	ENST00000396862.1	37	c.1028_1029insG	CCDS10500.1																																																																																				0.361	TIGD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251465.1	NM_033208		9	72						9	72	---	---	---	---	C	3349587	-	C	3349586	7	5	69	1	0	1	1	0	0	0	0	0	15898	1432	50	0	624	0	TIGD7	16	3349586	Frame_Shift_Ins	INS	-	TCGA-DJ-A13L-01A-11D-A21Z-08		3349586	87005167	36	1604											
HSD3B7	80270	broad.mit.edu	37	chr16	30997755	30997755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgccaggtacccggaacGtgatcgaggcttgtgtgcag	14	11	1	1			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr16:30997755G>A	ENST00000297679.5	+	4	427	c.334G>A	c.(334-336)Gtg>Atg	p.V112M	HSD3B7_ENST00000353250.5_Missense_Mutation_p.V112M|AC135048.1_ENST00000602217.1_5'Flank|HSD3B7_ENST00000262520.6_Missense_Mutation_p.V112M	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	112					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity (GO:0047016)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TACCCGGAACGTGATCGAGGC	0.577																																						ENST00000262520.6																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(334-336)Gtg>Atg		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7							88	74	79					16																	30997755		2197	4300	6497	SO:0001583	missense	80270				bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity	g.chr16:30997755G>A	AF277719	CCDS10698.1, CCDS45466.1	16p11.2	2011-09-14			ENSG00000099377	ENSG00000099377	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	18324	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 3"	607764				11067870, 19027726	Standard	NM_001142777		Approved	C(27)-3BETA-HSD, SDR11E3	uc002eaf.2	Q9H2F3	OTTHUMG00000132417	ENST00000297679.5:c.334G>A	16.37:g.30997755G>A	ENSP00000297679:p.Val112Met					HSD3B7_ENST00000353250.5_Missense_Mutation_p.V112M|HSD3B7_ENST00000297679.5_Missense_Mutation_p.V112M	p.V112M	NM_001142777.1	NP_001136249.1	Q9H2F3	3BHS7_HUMAN			4	624	+			112					Q96M28|Q9BSN9	Missense_Mutation	SNP	ENST00000297679.5	37	c.334G>A	CCDS10698.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438738	0.83885	.	.	ENSG00000099377	ENST00000262520;ENST00000353250;ENST00000297679	D;D;D	0.90133	-2.62;-2.62;-2.32	5.15	4.19	0.49359	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.122583	0.56097	D	0.000031	D	0.95987	0.8693	M	0.92833	3.35	0.48830	D	0.999714	D;D	0.89917	0.999;1.0	D;D	0.87578	0.969;0.998	D	0.96230	0.9167	10	0.72032	D	0.01	-20.882	12.2278	0.54470	0.0835:0.0:0.9165:0.0	.	112;112	Q96M28;Q9H2F3	.;3BHS7_HUMAN	M	112	ENSP00000262520:V112M;ENSP00000370662:V112M;ENSP00000297679:V112M	ENSP00000262520:V112M	V	+	1	0	HSD3B7	30905256	1.000000	0.71417	0.864000	0.33941	0.747000	0.42532	5.738000	0.68613	1.172000	0.42781	0.561000	0.74099	GTG		0.577	HSD3B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255554.2			10	30	0	0	0	0.361761	0	10	30					A	30997755	G	A	30997755	3	1	69	1	0	0	0	0	1	0	0	0	7392	1145	40	1	344	1	HSD3B7	16	30997755	Missense_Mutation	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08	27648169	30997755	59356998	37	1605											
WDR45L	56270	broad.mit.edu	37	chr17	80583323	80583323	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tggggattgtgtgtgaatgtGaacaccttaatcatggagtc	13	5	1	2			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr17:80583323G>C	ENST00000392325.4	-	5	563	c.369C>G	c.(367-369)ttC>ttG	p.F123L	WDR45B_ENST00000571835.1_5'UTR	NM_019613.3	NP_062559.2	Q5MNZ6	WIPI3_HUMAN	WD repeat domain 45B	123																	GTGTGAATGTGAACACCTTAA	0.453																																						ENST00000392325.4																			0											c.(367-369)ttC>ttG		WD repeat domain 45B							147	122	130					17																	80583323		2203	4300	6503	SO:0001583	missense	56270							g.chr17:80583323G>C	AF091083	CCDS11815.2	17q25.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000141580	ENSG00000141580		"WD repeat domain containing"	25072	protein-coding gene	gene with protein product		609226	"WDR45-like"	WDR45L		12477932	Standard	NM_019613		Approved	WIPI3	uc002kfq.3	Q5MNZ6	OTTHUMG00000150146	ENST00000392325.4:c.369C>G	17.37:g.80583323G>C	ENSP00000376139:p.Phe123Leu					WDR45B_ENST00000571835.1_5'UTR	p.F123L	NM_019613.3	NP_062559.2					5	563	-								O95328|Q2MCP6|Q6IBN2	Missense_Mutation	SNP	ENST00000392325.4	37	c.369C>G	CCDS11815.2	.	.	.	.	.	.	.	.	.	.	-	20.4	3.991563	0.74703	.	.	ENSG00000141580	ENST00000392325;ENST00000539012	T	0.54675	0.56	4.54	2.39	0.29439	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.047892	0.85682	D	0.000000	T	0.47764	0.1463	M	0.79123	2.44	0.80722	D	1	P	0.36990	0.577	B	0.32864	0.154	T	0.52472	-0.8571	10	0.87932	D	0	-41.662	7.3009	0.26420	0.2699:0.0:0.7301:0.0	.	123	Q5MNZ6	WIPI3_HUMAN	L	123;95	ENSP00000376139:F123L	ENSP00000376139:F123L	F	-	3	2	WDR45L	78176612	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.659000	0.24994	0.878000	0.35920	0.552000	0.68991	TTC		0.453	WDR45B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316536.1	NM_019613		6	62	0	0	0	0.217242	0	6	62					C	80583323	G	C	80583323	3	2	69	1	0	0	0	0	1	0	0	0	17295	1281	45	4	689	4	WDR45L	17	80583323	Missense_Mutation	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08		80583323	611887	38	1606											
OR7A5	26659	broad.mit.edu	37	chr19	14938639	14938639	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaccagcagtccacagaggtGagggttcataatgaccatgt	11	9	1	3			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr19:14938639G>T	ENST00000322301.3	-	2	502	c.415C>A	c.(415-417)Cac>Aac	p.H139N	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Missense_Mutation_p.H139N			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	139					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						CCACAGAGGTGAGGGTTCATA	0.498																																						ENST00000322301.3																			0				breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(415-417)Cac>Aac		olfactory receptor, family 7, subfamily A, member 5							81	75	77					19																	14938639		2203	4300	6503	SO:0001583	missense	26659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14938639G>T	X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"GPCR / Class A : Olfactory receptors"	8368	protein-coding gene	gene with protein product			"olfactory receptor, family 7, subfamily A, member 5 pseudogene"				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.415C>A	19.37:g.14938639G>T	ENSP00000316955:p.His139Asn					OR7A5_ENST00000594432.1_Missense_Mutation_p.H139N|OR7A5_ENST00000601611.1_Intron	p.H139N			Q15622	OR7A5_HUMAN			2	502	-			139					B2R682|Q6IFP1|Q96R96	Missense_Mutation	SNP	ENST00000322301.3	37	c.415C>A	CCDS12318.1	.	.	.	.	.	.	.	.	.	.	g	9.330	1.060394	0.19987	.	.	ENSG00000188269	ENST00000322301	T	0.01068	5.38	3.13	-4.78	0.03209	GPCR, rhodopsin-like superfamily (1);	0.877251	0.09040	U	0.857423	T	0.00666	0.0022	N	0.11870	0.19	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.48990	-0.8985	10	0.62326	D	0.03	.	0.7771	0.01034	0.2124:0.1424:0.2136:0.4316	.	139	Q15622	OR7A5_HUMAN	N	139	ENSP00000316955:H139N	ENSP00000316955:H139N	H	-	1	0	OR7A5	14799639	0.000000	0.05858	0.001000	0.08648	0.086000	0.17979	-2.572000	0.00912	-0.447000	0.07138	0.134000	0.15878	CAC		0.498	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506		11	54	1	0	9.70103e-10	0.361761	1.08889e-09	11	54					T	14938639	G	T	14938639	3	4	69	1	0	0	0	0	1	0	0	0	11216	1290	45	4	548	4	OR7A5	19	14938639	Missense_Mutation	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08		14938639	44190344	39	1607											
RYR1	6261	broad.mit.edu	37	chr19	38958277	38958277	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaccagtctcgttgtgAccgggtgcgcatcttccggg	15	11	2	2			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr19:38958277A>T	ENST00000359596.3	+	25	3206	c.3206A>T	c.(3205-3207)gAc>gTc	p.D1069V	RYR1_ENST00000355481.4_Missense_Mutation_p.D1069V|RYR1_ENST00000360985.3_Missense_Mutation_p.D1069V			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1069	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TCTCGTTGTGACCGGGTGCGC	0.557																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(3205-3207)gAc>gTc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						101	96	97					19																	38958277		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38958277A>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3206A>T	19.37:g.38958277A>T	ENSP00000352608:p.Asp1069Val					RYR1_ENST00000360985.3_Missense_Mutation_p.D1069V|RYR1_ENST00000359596.3_Missense_Mutation_p.D1069V	p.D1069V	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		25	3337	+	all_cancers(60;7.91e-06)		1069			6 X approximate repeats.|B30.2/SPRY 2.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.3206A>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	a	8.871	0.949270	0.18356	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.96913	-4.17;-4.17;-4.17	2.92	2.92	0.33932	B30.2/SPRY domain (1);	0.080781	0.45606	U	0.000349	D	0.96430	0.8835	L	0.45698	1.435	0.58432	D	0.999999	D;D	0.76494	0.999;0.997	D;D	0.70227	0.961;0.968	D	0.95703	0.8751	10	0.54805	T	0.06	.	10.858	0.46810	1.0:0.0:0.0:0.0	.	1069;1069	P21817-2;P21817	.;RYR1_HUMAN	V	1069	ENSP00000352608:D1069V;ENSP00000347667:D1069V;ENSP00000354254:D1069V	ENSP00000347667:D1069V	D	+	2	0	RYR1	43650117	1.000000	0.71417	0.995000	0.50966	0.524000	0.34500	4.125000	0.57931	1.600000	0.50102	0.130000	0.15844	GAC		0.557	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			23	109	0	0	0	0.681144	0	23	109					T	38958277	A	T	38958277	3	4	69	1	0	0	0	0	1	0	0	0	13768	275	10	5	3304	5	RYR1	19	38958277	Missense_Mutation	SNP	A	TCGA-DJ-A13L-01A-11D-A21Z-08	24019638	38958277	20170706	40	1608											
CACNG7	59284	broad.mit.edu	37	chr19	54418665	54418665	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccatggtcagcctcttcctCgtgttcacggccttcgtcat	8	16	4	0			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr19:54418665C>T	ENST00000391767.1	+	4	542	c.330C>T	c.(328-330)ctC>ctT	p.L110L	CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000391766.1_Silent_p.L110L|CACNG7_ENST00000222212.2_Silent_p.L110L			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	110					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		GCCTCTTCCTCGTGTTCACGG	0.607																																						ENST00000391767.1																			0				NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(328-330)ctC>ctT		calcium channel, voltage-dependent, gamma subunit 7							105	88	94					19																	54418665		2203	4300	6503	SO:0001819	synonymous_variant	59284				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|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54418665C>T	AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"Calcium channel subunits"	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.330C>T	19.37:g.54418665C>T						CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000391766.1_Silent_p.L110L|CACNG7_ENST00000222212.2_Silent_p.L110L	p.L110L			P62955	CCG7_HUMAN		GBM - Glioblastoma multiforme(134;0.0711)	4	542	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		110					Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Silent	SNP	ENST00000391767.1	37	c.330C>T	CCDS12868.1																																																																																				0.607	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2			7	81	0	0	0	0.27861	0	7	81					T	54418665	C	T	54418665	2	4	69	1	0	0	0	0	0	0	0	1	2562	871	31	1		1	CACNG7	19	54418665	Silent	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08	15460388	54418665	4710318	41	1609											
FERMT1	55612	broad.mit.edu	37	chr20	6068514	6068514	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcctgctacatttacatcGggcacaacttcgcagcctga	7	14	0	1			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr20:6068514G>A	ENST00000217289.4	-	11	2069	c.1281C>T	c.(1279-1281)ccC>ccT	p.P427P	FERMT1_ENST00000536936.1_Silent_p.P170P|FERMT1_ENST00000478194.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	427	FERM.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CATTTACATCGGGCACAACTT	0.383																																						ENST00000217289.4																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						c.(1279-1281)ccC>ccT		fermitin family member 1							148	137	141					20																	6068514		2203	4300	6503	SO:0001819	synonymous_variant	55612				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding	g.chr20:6068514G>A	AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"Fermitins", "Pleckstrin homology (PH) domain containing"	15889	protein-coding gene	gene with protein product	"kindlin-1", "kinderlin"	607900	"chromosome 20 open reading frame 42", "fermitin family homolog 1 (Drosophila)"	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.1281C>T	20.37:g.6068514G>A						FERMT1_ENST00000478194.1_5'UTR|FERMT1_ENST00000536936.1_Silent_p.P170P	p.P427P	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN			11	2069	-			427			FERM.|PH.		D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Silent	SNP	ENST00000217289.4	37	c.1281C>T	CCDS13098.1																																																																																				0.383	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	NM_017671		26	100	0	0	0	0.706142	0	26	100					A	6068514	G	A	6068514	2	1	69	1	0	0	0	0	0	0	0	1	5817	1103	39	1		1	FERMT1	20	6068514	Silent	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08		6068514	56957006	42	1610											
ANKRD5	63926	broad.mit.edu	37	chr20	10025162	10025162	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acgacaggcatcacgctgctCattttgctgctaaaggaggc	11	11	2	0	rs199742800		TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr20:10025162C>G	ENST00000378380.3	+	4	996	c.667C>G	c.(667-669)Cat>Gat	p.H223D	ANKEF1_ENST00000378392.1_Missense_Mutation_p.H223D|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	223							calcium ion binding (GO:0005509)										TCACGCTGCTCATTTTGCTGC	0.368																																						ENST00000378380.3																			0											c.(667-669)Cat>Gat		ankyrin repeat and EF-hand domain containing 1							205	187	193					20																	10025162		2203	4300	6503	SO:0001583	missense	63926							g.chr20:10025162C>G	AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"EF-hand domain containing", "Ankyrin repeat domain containing"	15803	protein-coding gene	gene with protein product			"ankyrin repeat domain 5"	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.667C>G	20.37:g.10025162C>G	ENSP00000367631:p.His223Asp					SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.H223D	p.H223D	NM_198798.1	NP_942093.1					4	996	+								B3KUQ0|Q9H6Y9	Missense_Mutation	SNP	ENST00000378380.3	37	c.667C>G	CCDS13108.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230091	0.79688	.	.	ENSG00000132623	ENST00000378392;ENST00000378380	T;T	0.71341	-0.56;-0.56	5.34	5.34	0.76211	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.87692	0.6241	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89642	0.3863	10	0.72032	D	0.01	-2.3547	19.4188	0.94712	0.0:1.0:0.0:0.0	.	223	Q9NU02	ANKR5_HUMAN	D	223	ENSP00000367644:H223D;ENSP00000367631:H223D	ENSP00000367631:H223D	H	+	1	0	ANKRD5	9973162	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	6.817000	0.75252	2.664000	0.90586	0.655000	0.94253	CAT		0.368	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096		14	140	0	0	0	0.575678	0	14	140					G	10025162	C	G	10025162	3	3	69	1	0	0	0	0	1	0	0	0	676	826	29	4	677	4	ANKRD5	20	10025162	Missense_Mutation	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08	3956648	10025162	53000358	43	1611											
EEF1A2	1917	broad.mit.edu	37	chr20	62121972	62121972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagagcttcgctcagagcctCgtggtgcatctccactgact	10	14	2	3			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr20:62121972C>T	ENST00000298049.7	-	5	959	c.889G>A	c.(889-891)Gag>Aag	p.E297K	EEF1A2_ENST00000217182.3_Missense_Mutation_p.E297K			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	297					positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CTCAGAGCCTCGTGGTGCATC	0.627																																						ENST00000217182.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20						c.(889-891)Gag>Aag		eukaryotic translation elongation factor 1 alpha 2							101	91	94					20																	62121972		2199	4294	6493	SO:0001583	missense	1917					nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr20:62121972C>T	AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"statin-like", "statin"	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.889G>A	20.37:g.62121972C>T	ENSP00000298049:p.Glu297Lys					EEF1A2_ENST00000298049.7_Missense_Mutation_p.E297K	p.E297K	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.22e-05)		6	1054	-	all_cancers(38;9.45e-12)		297					B5BUF3|E1P5J1|P54266|Q0VGC7	Missense_Mutation	SNP	ENST00000298049.7	37	c.889G>A	CCDS13522.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011074	0.93346	.	.	ENSG00000101210	ENST00000298049;ENST00000217182	T;T	0.64085	-0.08;-0.08	3.82	3.82	0.43975	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.315843	0.32563	N	0.005931	T	0.75679	0.3882	L	0.60012	1.86	0.80722	D	1	D;D	0.89917	0.962;1.0	P;D	0.91635	0.893;0.999	T	0.79831	-0.1637	10	0.87932	D	0	-21.0665	16.0768	0.80974	0.0:1.0:0.0:0.0	.	273;297	Q59GP5;Q05639	.;EF1A2_HUMAN	K	297	ENSP00000298049:E297K;ENSP00000217182:E297K	ENSP00000217182:E297K	E	-	1	0	EEF1A2	61592416	1.000000	0.71417	0.986000	0.45419	0.832000	0.47134	7.626000	0.83164	1.847000	0.53656	0.556000	0.70494	GAG		0.627	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	NM_001958		23	91	0	0	0	0.654019	0	23	91					T	62121972	C	T	62121972	3	4	69	1	0	0	0	0	1	0	0	0	4924	893	31	1	514	1	EEF1A2	20	62121972	Missense_Mutation	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08	52096810	62121972	903548	44	1612											
EIF4ENIF1	56478	broad.mit.edu	37	chr22	31851280	31851280	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tccccgagttctgtccaggaGagaggatggcttgctccaga	13	11	1	2			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr22:31851280G>C	ENST00000397525.1	-	9	1344	c.1121C>G	c.(1120-1122)tCt>tGt	p.S374C	EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.S374C|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.S53C|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.S374C|RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.S211C	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	374						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTGTCCAGGAGAGAGGATGGC	0.378																																						ENST00000397525.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1120-1122)tCt>tGt		eukaryotic translation initiation factor 4E nuclear import factor 1							69	68	68					22																	31851280		2203	4300	6503	SO:0001583	missense	56478					nucleus	protein binding|protein transporter activity	g.chr22:31851280G>C	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.1121C>G	22.37:g.31851280G>C	ENSP00000380659:p.Ser374Cys					RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.S374C|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.S53C|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.S211C|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.S374C	p.S374C	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN			9	1344	-			374					B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	c.1121C>G	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682474	0.88542	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180;ENST00000420671	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.77791	0.4183	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.87578	0.998;0.998;0.998;0.997	T	0.77864	-0.2429	9	0.62326	D	0.03	-17.1934	17.4871	0.87692	0.0:0.0:1.0:0.0	.	211;374;211;374	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	C	211;374;374;374;53;374	.	ENSP00000328103:S374C	S	-	2	0	EIF4ENIF1	30181280	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.615000	0.90920	2.797000	0.96272	0.655000	0.94253	TCT		0.378	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		6	46	0	0	0	0.248553	0	6	46					C	31851280	G	C	31851280	3	2	69	1	0	0	0	0	1	0	0	0	5035	942	33	4	1883	4	EIF4ENIF1	22	31851280	Missense_Mutation	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08		31851280	19453286	45	1613											
SBF1	6305	broad.mit.edu	37	chr22	50894771	50894771	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gccttcacctgccgtgcctcGaatacctcaatgggcaccag	9	16	2	0			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr22:50894771G>C	ENST00000390679.3	-	30	4246	c.4062C>G	c.(4060-4062)ttC>ttG	p.F1354L	SBF1_ENST00000348911.6_Missense_Mutation_p.F1355L|SBF1_ENST00000380817.3_Missense_Mutation_p.F1380L|SBF1_ENST00000476293.1_5'Flank			O95248	MTMR5_HUMAN	SET binding factor 1	1354	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GCCGTGCCTCGAATACCTCAA	0.617																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(4138-4140)ttC>ttG		SET binding factor 1							32	38	36					22																	50894771		2094	4204	6298	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50894771G>C	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	10542	protein-coding gene	gene with protein product	"myotubularin related 5", "DENN/MADD domain containing 7A"	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.4062C>G	22.37:g.50894771G>C	ENSP00000375097:p.Phe1354Leu					SBF1_ENST00000390679.3_Missense_Mutation_p.F1354L|SBF1_ENST00000348911.6_Missense_Mutation_p.F1355L	p.F1380L	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	31	4323	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1354			Myotubularin phosphatase.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.4140C>G		.	.	.	.	.	.	.	.	.	.	G	8.947	0.967276	0.18659	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	D;D;D	0.89810	-2.57;-2.57;-2.57	5.02	-1.06	0.10002	Myotubularin phosphatase domain (1);	0.382752	0.29059	N	0.013278	T	0.80407	0.4617	L	0.39397	1.21	0.40216	D	0.977685	B;B	0.17852	0.003;0.024	B;B	0.18561	0.011;0.022	T	0.65483	-0.6157	10	0.11794	T	0.64	.	11.5497	0.50713	0.5413:0.0:0.4587:0.0	.	1354;1380	O95248;O95248-4	MTMR5_HUMAN;.	L	1380;1355;1390;1354	ENSP00000370196:F1380L;ENSP00000252027:F1355L;ENSP00000375097:F1354L	ENSP00000336522:F1390L	F	-	3	2	SBF1	49241637	0.000000	0.05858	0.995000	0.50966	0.967000	0.64934	-2.684000	0.00835	-0.130000	0.11599	-0.357000	0.07601	TTC		0.617	SBF1-201	KNOWN	basic	protein_coding	protein_coding				5	43	0	0	0	0.184627	0	5	43					C	50894771	G	C	50894771	3	2	69	1	0	0	0	0	1	0	0	0	13858	1049	37	4	1585	4	SBF1	22	50894771	Missense_Mutation	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08	19043491	50894771	409795	46	1614											
KCNT2	343450	broad.mit.edu	37	chr1	196577366	196577366	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcgtcgttttgccatcctTggtcccctagcagcaaatct	8	13	1	0			TCGA-DJ-A13M-01A-11D-A10S-08	TCGA-DJ-A13M-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f90e2ec-b98e-463d-bf42-c4ec3ad0dc12	f91253d1-45d5-43b4-8cc7-de0ffa145b46	g.chr1:196577366T>C	ENST00000294725.9	-	1	989	c.74A>G	c.(73-75)cAa>cGa	p.Q25R	KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.Q25R|KCNT2_ENST00000367431.4_Missense_Mutation_p.Q25R|KCNT2_ENST00000367433.5_Missense_Mutation_p.Q25R			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	25					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTGCCATCCTTGGTCCCCTAG	0.512																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(73-75)cAa>cGa		potassium channel, subfamily T, member 2							196	167	177					1																	196577366		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196577366T>C	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.74A>G	1.37:g.196577366T>C	ENSP00000294725:p.Gln25Arg					KCNT2_ENST00000367431.4_Missense_Mutation_p.Q25R|KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.Q25R	p.Q25R			Q6UVM3	KCNT2_HUMAN			1	175	-			25					Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.74A>G	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	T	15.40	2.822260	0.50739	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.18174	2.23;2.23;2.48	5.5	5.5	0.81552	.	0.000000	0.49916	D	0.000133	T	0.07413	0.0187	N	0.02011	-0.69	0.80722	D	1	P;P;P;P	0.47106	0.725;0.82;0.89;0.725	B;B;B;B	0.44224	0.258;0.351;0.444;0.258	T	0.43163	-0.9408	10	0.12103	T	0.63	-14.0769	11.9163	0.52767	0.0:0.0:0.0:1.0	.	25;25;25;25	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	R	25	ENSP00000356403:Q25R;ENSP00000356401:Q25R;ENSP00000294725:Q25R	ENSP00000294725:Q25R	Q	-	2	0	KCNT2	194843989	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.723000	0.54955	2.299000	0.77371	0.528000	0.53228	CAA		0.512	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		3	148	0	0	0	1	0	3	148					C	196577366	T	C	196577366	3	2	70	1	0	0	0	0	1	0	0	0	8092	1812	63	3	3445	3	KCNT2	1	196577366	Missense_Mutation	SNP	T	TCGA-DJ-A13M-01A-11D-A10S-08		196577366	52673255	1	1615											
AGAP1	116987	broad.mit.edu	37	chr2	236957789	236957789	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcttggcacccacctttccCgagtccgatctctggacctg	8	16	2	0			TCGA-DJ-A13M-01A-11D-A10S-08	TCGA-DJ-A13M-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f90e2ec-b98e-463d-bf42-c4ec3ad0dc12	f91253d1-45d5-43b4-8cc7-de0ffa145b46	g.chr2:236957789C>A	ENST00000304032.8	+	16	2558	c.1978C>A	c.(1978-1980)Cga>Aga	p.R660R	AGAP1_ENST00000409538.1_Silent_p.R872R|AGAP1_ENST00000428334.2_Silent_p.R499R|AGAP1_ENST00000336665.5_Silent_p.R607R	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	660	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CCACCTTTCCCGAGTCCGATC	0.567																																						ENST00000409538.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(2614-2616)Cga>Aga		ArfGAP with GTPase domain, ankyrin repeat and PH domain 1							153	136	141					2																	236957789		2203	4300	6503	SO:0001819	synonymous_variant	116987				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:236957789C>A	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16922	protein-coding gene	gene with protein product		608651	"centaurin, gamma 2"	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.1978C>A	2.37:g.236957789C>A						AGAP1_ENST00000336665.5_Silent_p.R607R|AGAP1_ENST00000304032.7_Silent_p.R660R|AGAP1_ENST00000428334.2_Silent_p.R499R	p.R872R			Q9UPQ3	AGAP1_HUMAN			15	3110	+			660					B2RTX7|Q541S5|Q6P9D7|Q9NV93	Silent	SNP	ENST00000304032.8	37	c.2614C>A	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.394508	0.25205	.	.	ENSG00000157985	ENST00000418654;ENST00000453371	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	T	0.75049	0.3797	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73777	-0.3876	4	.	.	.	.	19.0581	0.93074	0.0:1.0:0.0:0.0	.	.	.	.	Q	212;61	.	.	P	+	2	0	AGAP1	236622528	0.993000	0.37304	0.943000	0.38184	0.944000	0.59088	3.083000	0.50136	2.488000	0.83962	0.655000	0.94253	CCG		0.567	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		3	116	1	0	1	1	1	3	116					A	236957789	C	A	236957789	2	1	70	1	0	0	0	0	0	0	0	1	366	644	23	4		4	AGAP1	2	236957789	Silent	SNP	C	TCGA-DJ-A13M-01A-11D-A10S-08		236957789	6241584	2	1616											
SLC26A2	1836	broad.mit.edu	37	chr5	149360264	149360264	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atattcccactgggtttatgCcacccaaagtaccagaatgg	8	11	0	1			TCGA-DJ-A13M-01A-11D-A10S-08	TCGA-DJ-A13M-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f90e2ec-b98e-463d-bf42-c4ec3ad0dc12	f91253d1-45d5-43b4-8cc7-de0ffa145b46	g.chr5:149360264C>T	ENST00000286298.4	+	3	1376	c.1108C>T	c.(1108-1110)Cca>Tca	p.P370S		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	370					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.P370S(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TGGGTTTATGCCACCCAAAGT	0.383																																						ENST00000286298.4																			1	Substitution - Missense(1)	p.P370S(1)	prostate(1)	NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18						c.(1108-1110)Cca>Tca		solute carrier family 26 (anion exchanger), member 2							112	102	106					5																	149360264		2203	4300	6503	SO:0001583	missense	1836					integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity	g.chr5:149360264C>T	U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"Solute carriers"	10994	protein-coding gene	gene with protein product		606718	"solute carrier family 26 (sulfate transporter), member 2"	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.1108C>T	5.37:g.149360264C>T	ENSP00000286298:p.Pro370Ser						p.P370S	NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		3	1376	+			370					A8K2U3|B2R6J1|Q6N051	Missense_Mutation	SNP	ENST00000286298.4	37	c.1108C>T	CCDS4300.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.733035	0.69189	.	.	ENSG00000155850	ENST00000286298	D	0.93076	-3.16	5.6	4.73	0.59995	Sulphate transporter (1);	0.162045	0.56097	D	0.000028	D	0.93501	0.7926	L	0.39085	1.19	0.51767	D	0.999933	P	0.52692	0.955	P	0.58620	0.842	D	0.93313	0.6686	10	0.48119	T	0.1	.	14.464	0.67470	0.0:0.9294:0.0:0.0706	.	370	P50443	S26A2_HUMAN	S	370	ENSP00000286298:P370S	ENSP00000286298:P370S	P	+	1	0	SLC26A2	149340457	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.776000	0.62354	1.363000	0.46019	0.650000	0.86243	CCA		0.383	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252333.2	NM_000112		3	85	0	0	0	1	0	3	85					T	149360264	C	T	149360264	3	4	70	1	0	0	0	0	1	0	0	0	14517	739	26	2	1114	2	SLC26A2	5	149360264	Missense_Mutation	SNP	C	TCGA-DJ-A13M-01A-11D-A10S-08		149360264	31554996	3	1617											
TBX20	57057	broad.mit.edu	37	chr7	35280519	35280519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggtaggcagtgactgccGtaaaaactgtttctggaaag	12	7	2	1			TCGA-DJ-A13M-01A-11D-A10S-08	TCGA-DJ-A13M-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f90e2ec-b98e-463d-bf42-c4ec3ad0dc12	f91253d1-45d5-43b4-8cc7-de0ffa145b46	g.chr7:35280519G>A	ENST00000408931.3	-	5	1311	c.785C>T	c.(784-786)aCg>aTg	p.T262M		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	262					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						AGTGACTGCCGTAAAAACTGT	0.403																																						ENST00000408931.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18	GRCh37	CM086967	TBX20	M		c.(784-786)aCg>aTg		T-box 20							90	83	85					7																	35280519		2203	4300	6503	SO:0001583	missense	57057					nucleus	DNA binding	g.chr7:35280519G>A	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"T-boxes"	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.785C>T	7.37:g.35280519G>A	ENSP00000386170:p.Thr262Met						p.T262M	NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN			5	1311	-			262					A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Missense_Mutation	SNP	ENST00000408931.3	37	c.785C>T	CCDS43568.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.645634	0.87958	.	.	ENSG00000164532	ENST00000408931	D	0.88124	-2.34	5.72	5.72	0.89469	p53-like transcription factor, DNA-binding (1);	0.045936	0.85682	D	0.000000	D	0.91379	0.7280	L	0.41961	1.31	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.90391	0.4395	10	0.44086	T	0.13	.	19.8917	0.96932	0.0:0.0:1.0:0.0	.	262	Q9UMR3	TBX20_HUMAN	M	262	ENSP00000386170:T262M	ENSP00000386170:T262M	T	-	2	0	TBX20	35247044	1.000000	0.71417	0.529000	0.27951	0.991000	0.79684	9.869000	0.99810	2.705000	0.92388	0.591000	0.81541	ACG		0.403	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417		28	42	0	0	0	1	0	28	42					A	35280519	G	A	35280519	3	1	70	1	0	0	0	0	1	0	0	0	15653	1145	40	1	575	1	TBX20	7	35280519	Missense_Mutation	SNP	G	TCGA-DJ-A13M-01A-11D-A10S-08		35280519	123858144	4	1618											
ZNHIT1	10467	broad.mit.edu	37	chr7	100865924	100865924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcggcgggtgctggaccGggctgcccggcagcgtcgca	19	14	0	0			TCGA-DJ-A13M-01A-11D-A10S-08	TCGA-DJ-A13M-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f90e2ec-b98e-463d-bf42-c4ec3ad0dc12	f91253d1-45d5-43b4-8cc7-de0ffa145b46	g.chr7:100865924G>A	ENST00000305105.2	+	2	590	c.62G>A	c.(61-63)cGg>cAg	p.R21Q	ZNHIT1_ENST00000492315.1_3'UTR	NM_006349.2	NP_006340.1	O43257	ZNHI1_HUMAN	zinc finger, HIT-type containing 1	21					negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of histone deacetylation (GO:0031063)|regulation of T cell proliferation (GO:0042129)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)	11	Lung NSC(181;0.168)|all_lung(186;0.215)					GTGCTGGACCGGGCTGCCCGG	0.667																																						ENST00000305105.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)	11						c.(61-63)cGg>cAg		zinc finger, HIT-type containing 1							39	48	45					7																	100865924		2202	4297	6499	SO:0001583	missense	10467						metal ion binding|protein binding	g.chr7:100865924G>A	AF093571	CCDS5716.1	7q22.1	2010-09-15	2010-09-15	2003-08-08	ENSG00000106400	ENSG00000106400		"Zinc fingers, HIT-type"	21688	protein-coding gene	gene with protein product	"putative cyclin G1 interacting protein"		"zinc finger protein, subfamily 4A (HIT domain containing), member 1", "zinc finger, HIT domain containing 1"	ZNFN4A1			Standard	NM_006349		Approved	CG1I, H_DJ0747G18.14	uc003uye.3	O43257	OTTHUMG00000157113	ENST00000305105.2:c.62G>A	7.37:g.100865924G>A	ENSP00000304593:p.Arg21Gln					ZNHIT1_ENST00000492315.1_3'UTR	p.R21Q	NM_006349.2	NP_006340.1	O43257	ZNHI1_HUMAN			2	590	+	Lung NSC(181;0.168)|all_lung(186;0.215)		21					Q6IB12	Missense_Mutation	SNP	ENST00000305105.2	37	c.62G>A	CCDS5716.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.530827	0.45073	.	.	ENSG00000106400	ENST00000305105	.	.	.	5.14	3.31	0.37934	.	0.398463	0.26000	N	0.026941	T	0.16599	0.0399	N	0.08118	0	0.27537	N	0.95091	B	0.02656	0.0	B	0.01281	0.0	T	0.09487	-1.0672	9	0.37606	T	0.19	-26.8896	6.0544	0.19802	0.1743:0.154:0.6717:0.0	.	21	O43257	ZNHI1_HUMAN	Q	21	.	ENSP00000304593:R21Q	R	+	2	0	ZNHIT1	100652644	1.000000	0.71417	0.997000	0.53966	0.749000	0.42624	2.870000	0.48451	1.166000	0.42689	-0.311000	0.09066	CGG		0.667	ZNHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347488.1	NM_006349		3	97	0	0	0	1	0	3	97					A	100865924	G	A	100865924	3	1	70	1	0	0	0	0	1	0	0	0	18203	1116	39	1	68	1	ZNHIT1	7	100865924	Missense_Mutation	SNP	G	TCGA-DJ-A13M-01A-11D-A10S-08	65585405	100865924	58272739	5	1619											
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	14	13	0	0	rs121913233		TCGA-DJ-A13M-01A-11D-A10S-08	TCGA-DJ-A13M-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f90e2ec-b98e-463d-bf42-c4ec3ad0dc12	f91253d1-45d5-43b4-8cc7-de0ffa145b46	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117	102	107					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)				HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R	p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		62	79	0	0	0	1	0	62	79					C	533874	T	C	533874	3	2	70	1	0	0	0	0	1	0	0	0	7348	1580	55	3	466	3	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-DJ-A13M-01A-11D-A10S-08		533874	134472642	6	1620											
COL4A1	1282	broad.mit.edu	37	chr13	110830543	110830543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtccagtccagggaatcCggggaaacccttctctcctt	9	14	1	0			TCGA-DJ-A13M-01A-11D-A10S-08	TCGA-DJ-A13M-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f90e2ec-b98e-463d-bf42-c4ec3ad0dc12	f91253d1-45d5-43b4-8cc7-de0ffa145b46	g.chr13:110830543C>T	ENST00000375820.4	-	32	2615	c.2494G>A	c.(2494-2496)Gga>Aga	p.G832R		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	832	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCAGGGAATCCGGGGAAACCC	0.517																																						ENST00000375820.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(2494-2496)Gga>Aga		collagen, type IV, alpha 1							64	72	69					13																	110830543		2203	4300	6503	SO:0001583	missense	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110830543C>T	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.2494G>A	13.37:g.110830543C>T	ENSP00000364979:p.Gly832Arg						p.G832R	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		32	2615	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	832			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.2494G>A	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	C	32	5.191883	0.94923	.	.	ENSG00000187498	ENST00000375820	D	0.99353	-5.77	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.99687	0.9882	H	0.97587	4.035	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97436	1.0018	10	0.87932	D	0	.	19.4741	0.94979	0.0:1.0:0.0:0.0	.	832	P02462	CO4A1_HUMAN	R	832	ENSP00000364979:G832R	ENSP00000364979:G832R	G	-	1	0	COL4A1	109628544	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	7.170000	0.77587	2.595000	0.87683	0.655000	0.94253	GGA		0.517	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			6	155	0	0	0	1	0	6	155					T	110830543	C	T	110830543	3	4	70	1	0	0	0	0	1	0	0	0	3689	661	23	1	2599	1	COL4A1	13	110830543	Missense_Mutation	SNP	C	TCGA-DJ-A13M-01A-11D-A10S-08		110830543	4339335	7	1621											
SLC5A2	6524	broad.mit.edu	37	chr16	31499763	31499763	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcggcacggaggtgggcTgctccaacatcgcctacccg	14	14	0	0			TCGA-DJ-A13M-01A-11D-A10S-08	TCGA-DJ-A13M-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f90e2ec-b98e-463d-bf42-c4ec3ad0dc12	f91253d1-45d5-43b4-8cc7-de0ffa145b46	g.chr16:31499763T>G	ENST00000330498.3	+	9	1100	c.1081T>G	c.(1081-1083)Tgc>Ggc	p.C361G	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	361					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	GGAGGTGGGCTGCTCCAACAT	0.711																																						ENST00000330498.3																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(1081-1083)Tgc>Ggc		solute carrier family 5 (sodium/glucose cotransporter), member 2							35	35	35					16																	31499763		2196	4299	6495	SO:0001583	missense	6524				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	g.chr16:31499763T>G		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"Solute carriers"	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1081T>G	16.37:g.31499763T>G	ENSP00000327943:p.Cys361Gly					AC026471.6_ENST00000565137.1_RNA	p.C361G	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN			9	1100	+			361					A2RRD2	Missense_Mutation	SNP	ENST00000330498.3	37	c.1081T>G	CCDS10714.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.434228	0.83776	.	.	ENSG00000140675	ENST00000330498;ENST00000419665	D;D	0.88124	-2.34;-2.34	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.93759	0.8005	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94368	0.7593	10	0.62326	D	0.03	.	12.197	0.54303	0.0:0.0:0.0:1.0	.	361	P31639	SC5A2_HUMAN	G	361	ENSP00000327943:C361G;ENSP00000410601:C361G	ENSP00000327943:C361G	C	+	1	0	SLC5A2	31407264	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	7.863000	0.87023	1.987000	0.57996	0.459000	0.35465	TGC		0.711	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			12	5	0	0	0	1	0	12	5					G	31499763	T	G	31499763	3	3	70	1	0	0	0	0	1	0	0	0	14665	1580	55	5	1115	5	SLC5A2	16	31499763	Missense_Mutation	SNP	T	TCGA-DJ-A13M-01A-11D-A10S-08		31499763	58854990	8	1622											
ENGASE	64772	broad.mit.edu	37	chr17	77073871	77073871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggagcccctggcgtgtcGccagccccctctgagcagcc	12	19	1	1	rs575038984	byFrequency	TCGA-DJ-A13M-01A-11D-A10S-08	TCGA-DJ-A13M-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f90e2ec-b98e-463d-bf42-c4ec3ad0dc12	f91253d1-45d5-43b4-8cc7-de0ffa145b46	g.chr17:77073871G>A	ENST00000579016.1	+	3	341	c.341G>A	c.(340-342)cGc>cAc	p.R114H	ENGASE_ENST00000539857.2_5'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	114						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)	p.R114L(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						CTGGCGTGTCGCCAGCCCCCT	0.582													G|||	2	0.000399361	0	0	5008	,	,		13341	0.002		0	False		,,,				2504	0					ENST00000579016.1																			1	Substitution - Missense(1)	p.R114L(1)	lung(1)	breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						c.(340-342)cGc>cAc		endo-beta-N-acetylglucosaminidase							46	49	48					17																	77073871		1929	4133	6062	SO:0001583	missense	64772					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	g.chr17:77073871G>A	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase", "Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.341G>A	17.37:g.77073871G>A	ENSP00000462333:p.Arg114His					ENGASE_ENST00000539857.2_5'UTR	p.R114H	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN			3	341	+			114					Q659F0|Q8TB86|Q9H6U4	Missense_Mutation	SNP	ENST00000579016.1	37	c.341G>A	CCDS42394.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.358340	0.41801	.	.	ENSG00000167280	ENST00000311595;ENST00000545583	.	.	.	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.77857	0.4193	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.964;0.985	T	0.79829	-0.1638	9	0.56958	D	0.05	-10.0868	18.133	0.89608	0.0:0.0:1.0:0.0	.	114;114	Q8NFI3;Q8NFI3-3	ENASE_HUMAN;.	H	114	.	ENSP00000308158:R114H	R	+	2	0	ENGASE	74585466	1.000000	0.71417	0.955000	0.39395	0.391000	0.30476	9.166000	0.94766	2.260000	0.74910	0.563000	0.77884	CGC		0.582	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759		27	46	0	0	0	1	0	27	46					A	77073871	G	A	77073871	3	1	70	1	0	0	0	0	1	0	0	0	5118	1087	38	1	351	1	ENGASE	17	77073871	Missense_Mutation	SNP	G	TCGA-DJ-A13M-01A-11D-A10S-08		77073871	4121339	9	1623											
ZNF626	199777	broad.mit.edu	37	chr19	20807184	20807184	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctctccagtatgattctcTcatgtgtagtaaggattgag	9	7	3	2	rs71332197		TCGA-DJ-A13M-01A-11D-A10S-08	TCGA-DJ-A13M-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f90e2ec-b98e-463d-bf42-c4ec3ad0dc12	f91253d1-45d5-43b4-8cc7-de0ffa145b46	g.chr19:20807184T>C	ENST00000601440.1	-	4	1645	c.1499A>G	c.(1498-1500)gAg>gGg	p.E500G	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	500			E -> K (in dbSNP:rs10408597).		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)|lung(3)|skin(1)	6						TATGATTCTCTCATGTGTAGT	0.398																																						ENST00000601440.1																			0				breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(1498-1500)gAg>gGg		zinc finger protein 626							53	25	34					19																	20807184		1933	3831	5764	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807184T>C	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"Zinc fingers, C2H2-type", "-"	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1499A>G	19.37:g.20807184T>C	ENSP00000469958:p.Glu500Gly					CTC-513N18.7_ENST00000595094.1_lincRNA	p.E500G	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN			4	1645	-			500		E -> K (in dbSNP:rs10408597).			Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.1499A>G	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	8.105	0.777547	0.16120	.	.	ENSG00000188171	ENST00000392298;ENST00000453075	.	.	.	0.832	-0.477	0.12097	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26448	0.0646	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.06625	-1.0816	8	0.87932	D	0	.	3.9033	0.09171	0.0:0.6461:0.0:0.3539	.	500	Q68DY1	ZN626_HUMAN	G	500;424	.	ENSP00000376118:E500G	E	-	2	0	ZNF626	20599024	0.000000	0.05858	0.008000	0.14137	0.008000	0.06430	-0.097000	0.11042	0.148000	0.19059	0.147000	0.16070	GAG		0.398	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		3	117	0	0	0	1	0	3	117					C	20807184	T	C	20807184	3	2	70	1	0	0	0	0	1	0	0	0	18047	1551	54	3	91	3	ZNF626	19	20807184	Missense_Mutation	SNP	T	TCGA-DJ-A13M-01A-11D-A10S-08		20807184	38321799	10	1624											
WDR62	284403	broad.mit.edu	37	chr19	36558892	36558892	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcaatgagaagagggtgctgGagaagtggatcaacctgaag	15	5	2	4			TCGA-DJ-A13M-01A-11D-A10S-08	TCGA-DJ-A13M-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f90e2ec-b98e-463d-bf42-c4ec3ad0dc12	f91253d1-45d5-43b4-8cc7-de0ffa145b46	g.chr19:36558892G>T	ENST00000270301.7	+	7	862	c.862G>T	c.(862-864)Gag>Tag	p.E288*	WDR62_ENST00000401500.2_Nonsense_Mutation_p.E288*|WDR62_ENST00000378860.4_3'UTR|WDR62_ENST00000388999.3_Nonsense_Mutation_p.E288*			O43379	WDR62_HUMAN	WD repeat domain 62	288					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GAGGGTGCTGGAGAAGTGGAT	0.577																																						ENST00000401500.2																			0				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43						c.(862-864)Gag>Tag		WD repeat domain 62							92	68	76					19																	36558892		2203	4300	6503	SO:0001587	stop_gained	284403				cerebral cortex development	nucleus		g.chr19:36558892G>T	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"WD repeat domain containing"	24502	protein-coding gene	gene with protein product		613583	"chromosome 19 open reading frame 14", "microcephaly, primary autosomal recessive 2"	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.862G>T	19.37:g.36558892G>T	ENSP00000270301:p.Glu288*					WDR62_ENST00000270301.7_Nonsense_Mutation_p.E288*|WDR62_ENST00000388999.3_Nonsense_Mutation_p.E288*|WDR62_ENST00000378860.4_3'UTR	p.E288*	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		7	897	+	Esophageal squamous(110;0.162)		288					Q63HP9|Q659D7|Q8NBF7|Q96AD9	Nonsense_Mutation	SNP	ENST00000270301.7	37	c.862G>T	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	G	37	6.442589	0.97572	.	.	ENSG00000075702	ENST00000401500;ENST00000388999;ENST00000378860;ENST00000270301;ENST00000427823	.	.	.	6.01	6.01	0.97437	.	0.100244	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-23.0094	18.069	0.89399	0.0:0.0:1.0:0.0	.	.	.	.	X	288;288;288;288;310	.	ENSP00000270301:E288X	E	+	1	0	WDR62	41250732	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.469000	0.97679	2.869000	0.98440	0.558000	0.71614	GAG		0.577	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		7	39	1	0	5.18039e-06	1	5.37964e-06	7	39					T	36558892	G	T	36558892	4	4	70	1	0	0	0	0	0	1	0	0	17310	1175	41	4	888	4	WDR62	19	36558892	Nonsense_Mutation	SNP	G	TCGA-DJ-A13M-01A-11D-A10S-08	15751708	36558892	22570091	11	1625											
CAPNS1	826	broad.mit.edu	37	chr19	36631958	36631958	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aagggcggcggcggcggcggCgggggaggcgggggcctggg	28	9	0	0	rs567500165		TCGA-DJ-A13M-01A-11D-A10S-08	TCGA-DJ-A13M-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f90e2ec-b98e-463d-bf42-c4ec3ad0dc12	f91253d1-45d5-43b4-8cc7-de0ffa145b46	g.chr19:36631958C>G	ENST00000246533.3	+	2	643	c.45C>G	c.(43-45)ggC>ggG	p.G15G	CAPNS1_ENST00000587718.1_Silent_p.G15G|CAPNS1_ENST00000590874.1_Silent_p.G15G|CAPNS1_ENST00000588780.1_Silent_p.G15G|CAPNS1_ENST00000588815.1_Silent_p.G15G|CAPNS1_ENST00000589146.1_Silent_p.G15G	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	15	Gly-rich (hydrophobic).|Poly-Gly.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			gcggcggcggcgggggaggcg	0.736													C|||	1	0.000199681	0	0	5008	,	,		3971	0.001		0	False		,,,				2504	0				Esophageal Squamous(129;1541 1691 5780 18353 34150)	ENST00000246533.3																			0				cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(43-45)ggC>ggG		calpain, small subunit 1							6	7	7					19																	36631958		1958	3947	5905	SO:0001819	synonymous_variant	826				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr19:36631958C>G	X04106	CCDS12489.1	19q13.1	2013-01-10		2001-08-10	ENSG00000126247	ENSG00000126247	3.4.22.52	"EF-hand domain containing"	1481	protein-coding gene	gene with protein product		114170		CAPN4		3024120, 3016651	Standard	NM_001003962		Approved	CANP, CANPS, 30K, CDPS	uc002odj.3	P04632		ENST00000246533.3:c.45C>G	19.37:g.36631958C>G						CAPNS1_ENST00000590874.1_Silent_p.G15G|CAPNS1_ENST00000589146.1_Silent_p.G15G|CAPNS1_ENST00000587718.1_Silent_p.G15G|CAPNS1_ENST00000588780.1_Silent_p.G15G|CAPNS1_ENST00000588815.1_Silent_p.G15G	p.G15G	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		2	643	+	Esophageal squamous(110;0.162)		15			Gly-rich (hydrophobic).|Poly-Gly.		A8K0P1|Q8WTX3|Q96EW0	Silent	SNP	ENST00000246533.3	37	c.45C>G	CCDS12489.1																																																																																				0.736	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457411.2			2	10	0	0	0	1	0	2	10					G	36631958	C	G	36631958	2	3	70	1	0	0	0	0	0	0	0	1	2633	755	27	4		4	CAPNS1	19	36631958	Silent	SNP	C	TCGA-DJ-A13M-01A-11D-A10S-08	73066	36631958	22497025	12	1626											
PCIF1	63935	broad.mit.edu	37	chr20	44574405	44574405	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtactgctacccagtccgGctggctgtgtctgcaccgcc	12	15	1	0			TCGA-DJ-A13M-01A-11D-A10S-08	TCGA-DJ-A13M-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f90e2ec-b98e-463d-bf42-c4ec3ad0dc12	f91253d1-45d5-43b4-8cc7-de0ffa145b46	g.chr20:44574405G>A	ENST00000372409.3	+	12	1588	c.1224G>A	c.(1222-1224)cgG>cgA	p.R408R	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	408					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						ACCCAGTCCGGCTGGCTGTGT	0.617																																						ENST00000372409.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						c.(1222-1224)cgG>cgA		PDX1 C-terminal inhibiting factor 1							78	72	74					20																	44574405		2203	4300	6503	SO:0001819	synonymous_variant	63935					nucleus		g.chr20:44574405G>A	AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 121"		"chromosome 20 open reading frame 67"	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.1224G>A	20.37:g.44574405G>A						PCIF1_ENST00000479348.1_3'UTR	p.R408R	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN			12	1588	+			408					E1P5P1|Q54AB9|Q9NT85	Silent	SNP	ENST00000372409.3	37	c.1224G>A	CCDS13388.1																																																																																				0.617	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079550.1	NM_022104		3	101	0	0	0	1	0	3	101					A	44574405	G	A	44574405	2	1	70	1	0	0	0	0	0	0	0	1	11580	1190	42	2		2	PCIF1	20	44574405	Silent	SNP	G	TCGA-DJ-A13M-01A-11D-A10S-08		44574405	18451115	13	1627											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	9	17	2	0	rs145580328		TCGA-DJ-A13M-01A-11D-A10S-08	TCGA-DJ-A13M-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f90e2ec-b98e-463d-bf42-c4ec3ad0dc12	f91253d1-45d5-43b4-8cc7-de0ffa145b46	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51	56	55					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		4	182	0	0	0	1	0	4	182					G	37028425	A	G	37028425	3	3	70	1	0	0	0	0	1	0	0	0	5571	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-DJ-A13M-01A-11D-A10S-08		37028425	118242135	14	1628											
C1orf91	56063	broad.mit.edu	37	chr1	32682537	32682537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcacggtgagcaccatgcCagcaactgctcctgggataa	10	12	1	1			TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr1:32682537C>T	ENST00000344461.3	-	5	355	c.340G>A	c.(340-342)Ggc>Agc	p.G114S	TMEM234_ENST00000545122.1_3'UTR|TMEM234_ENST00000309777.6_Missense_Mutation_p.G114S|TMEM234_ENST00000373593.1_3'UTR|TMEM234_ENST00000485689.1_5'UTR			Q8WY98	TM234_HUMAN	transmembrane protein 234	114						integral component of membrane (GO:0016021)				kidney(2)|lung(3)	5						AGCACCATGCCAGCAACTGCT	0.552																																						ENST00000309777.6																			0				kidney(2)|lung(3)	5						c.(340-342)Ggc>Agc		transmembrane protein 234							81	73	76					1																	32682537		2203	4300	6503	SO:0001583	missense	56063					integral to membrane		g.chr1:32682537C>T	AY358586	CCDS356.2	1p36.11-p34.2	2011-02-14	2011-02-14	2011-02-14	ENSG00000160055	ENSG00000160055			28837	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 91"	C1orf91		12477932	Standard	XM_005271045		Approved	RP4-622L5, dJ622L5.7, FLJ90779	uc001buq.4	Q8WY98	OTTHUMG00000005742	ENST00000344461.3:c.340G>A	1.37:g.32682537C>T	ENSP00000344021:p.Gly114Ser					TMEM234_ENST00000373593.1_3'UTR|TMEM234_ENST00000485689.1_5'UTR|TMEM234_ENST00000545122.1_3'UTR|TMEM234_ENST00000344461.3_Missense_Mutation_p.G114S	p.G114S	NM_019118.3	NP_061991.3	Q8WY98	TM234_HUMAN			5	342	-			114					B2R535|D3DPP7|Q6UWY9|Q8N2H6|Q9BSR2|Q9NU76	Missense_Mutation	SNP	ENST00000344461.3	37	c.340G>A		.	.	.	.	.	.	.	.	.	.	C	32	5.112206	0.94339	.	.	ENSG00000160055	ENST00000309777;ENST00000344461	T;T	0.80214	-1.35;-1.35	5.0	5.0	0.66597	.	.	.	.	.	D	0.91068	0.7189	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.92255	0.5812	9	0.87932	D	0	.	18.4558	0.90720	0.0:1.0:0.0:0.0	.	114	Q8WY98-3	.	S	114	ENSP00000309792:G114S;ENSP00000344021:G114S	ENSP00000309792:G114S	G	-	1	0	TMEM234	32455124	1.000000	0.71417	0.981000	0.43875	0.981000	0.71138	5.650000	0.67944	2.775000	0.95449	0.563000	0.77884	GGC		0.552	TMEM234-009	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000092260.2	NM_019118		3	49	0	0	0	0.150653	0	3	49					T	32682537	C	T	32682537	3	4	71	1	0	0	0	0	1	0	0	0	2068	594	21	2	86	2	C1orf91	1	32682537	Missense_Mutation	SNP	C	TCGA-DJ-A13O-01A-11D-A10S-08		32682537	216568084	1	1629											
INTS3	65123	broad.mit.edu	37	chr1	153713819	153713819	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcctgtttactctcatccTcactgaacctgcccaagccc	7	17	2	1			TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr1:153713819T>C	ENST00000318967.2	+	3	861	c.293T>C	c.(292-294)cTc>cCc	p.L98P	INTS3_ENST00000435409.2_Missense_Mutation_p.L98P|INTS3_ENST00000456435.1_5'UTR	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	98					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACTCTCATCCTCACTGAACCT	0.488																																						ENST00000318967.2																			0				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(292-294)cTc>cCc		integrator complex subunit 3							128	126	127					1																	153713819		2203	4300	6503	SO:0001583	missense	65123				DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding	g.chr1:153713819T>C	BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"sensor of single-strand DNA complex subunit A"	611347	"chromosome 1 open reading frame 60"	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.293T>C	1.37:g.153713819T>C	ENSP00000318641:p.Leu98Pro					INTS3_ENST00000456435.1_5'UTR|INTS3_ENST00000435409.2_Missense_Mutation_p.L98P	p.L98P	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		3	861	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		98					A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Missense_Mutation	SNP	ENST00000318967.2	37	c.293T>C	CCDS1052.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.964190	0.74131	.	.	ENSG00000143624	ENST00000318967;ENST00000435409	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.73497	0.3594	M	0.74467	2.265	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	T	0.78107	-0.2333	9	0.87932	D	0	.	14.0819	0.64929	0.0:0.0:0.0:1.0	.	98	Q68E01-2	.	P	98	.	ENSP00000318641:L98P	L	+	2	0	INTS3	151980443	1.000000	0.71417	0.998000	0.56505	0.455000	0.32408	7.261000	0.78400	2.208000	0.71279	0.482000	0.46254	CTC		0.488	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2	NM_023015		3	206	0	0	0	0.115264	0	3	206					C	153713819	T	C	153713819	3	2	71	1	0	0	0	0	1	0	0	0	7779	1551	54	3	303	3	INTS3	1	153713819	Missense_Mutation	SNP	T	TCGA-DJ-A13O-01A-11D-A10S-08	121031282	153713819	95536802	2	1630											
KCNK1	3775	broad.mit.edu	37	chr1	233750036	233750036	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctggtcttcggcgcagtggTcttctcctcggtggagctgc	14	13	3	0			TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr1:233750036T>A	ENST00000366621.3	+	1	287	c.119T>A	c.(118-120)gTc>gAc	p.V40D		NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	40					potassium ion transport (GO:0006813)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)	GGCGCAGTGGTCTTCTCCTCG	0.657																																						ENST00000366621.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11						c.(118-120)gTc>gAc		potassium channel, subfamily K, member 1	Ibutilide(DB00308)|Quinidine(DB00908)						39	37	38					1																	233750036		2203	4300	6503	SO:0001583	missense	3775					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr1:233750036T>A	U33632	CCDS1599.1	1q42-q43	2012-03-07			ENSG00000135750	ENSG00000135750		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6272	protein-coding gene	gene with protein product		601745				8661042, 16382106	Standard	NM_002245		Approved	K2p1.1, DPK, TWIK-1	uc010pxo.1	O00180	OTTHUMG00000037923	ENST00000366621.3:c.119T>A	1.37:g.233750036T>A	ENSP00000355580:p.Val40Asp						p.V40D	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN			1	287	+		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)	40					Q13307|Q5T5E8	Missense_Mutation	SNP	ENST00000366621.3	37	c.119T>A	CCDS1599.1	.	.	.	.	.	.	.	.	.	.	T	18.38	3.611446	0.66558	.	.	ENSG00000135750	ENST00000366621	T	0.26957	1.7	4.02	2.88	0.33553	.	0.138089	0.47852	D	0.000214	T	0.38108	0.1028	M	0.83384	2.64	0.80722	D	1	D	0.55385	0.971	P	0.49012	0.598	T	0.31194	-0.9952	10	0.87932	D	0	.	8.9988	0.36069	0.0:0.0906:0.0:0.9094	.	40	O00180	KCNK1_HUMAN	D	40	ENSP00000355580:V40D	ENSP00000355580:V40D	V	+	2	0	KCNK1	231816659	1.000000	0.71417	1.000000	0.80357	0.462000	0.32619	5.724000	0.68500	0.422000	0.26005	-0.326000	0.08463	GTC		0.657	KCNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092565.1	NM_002245		6	31	0	0	0	0.248553	0	6	31					A	233750036	T	A	233750036	3	1	71	1	0	0	0	0	1	0	0	0	8058	1667	58	5	121	5	KCNK1	1	233750036	Missense_Mutation	SNP	T	TCGA-DJ-A13O-01A-11D-A10S-08	80036217	233750036	15500585	3	1631											
TTN	7273	broad.mit.edu	37	chr2	179439488	179439488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atactctaatccagtagtaaGgcgggtggctttataggtag	12	6	1	0			TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr2:179439488G>A	ENST00000591111.1	-	276	66672	c.66448C>T	c.(66448-66450)Ctt>Ttt	p.L22150F	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.L14851F|TTN_ENST00000460472.2_Missense_Mutation_p.L14726F|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L14918F|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L23791F|TTN_ENST00000342992.6_Missense_Mutation_p.L21223F|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22150	Fibronectin type-III 60. {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)			CCAGTAGTAAGGCGGGTGGCT	0.443																																						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.(71371-71373)Ctt>Ttt		titin							110	104	106					2																	179439488		1934	4145	6079	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179439488G>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.66448C>T	2.37:g.179439488G>A	ENSP00000465570:p.Leu22150Phe					TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L14726F|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L14918F|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L22150F|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L21223F|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L14851F	p.L23791F	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	71595	-			22150			Fibronectin type-III 73.		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.71371C>T		.	.	.	.	.	.	.	.	.	.	G	14.92	2.680133	0.47886	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	5.6	5.6	0.85130	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.95478	0.8531	H	0.97103	3.94	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.96636	0.9470	9	0.87932	D	0	.	19.6031	0.95572	0.0:0.0:1.0:0.0	.	14726;14851;14918;22150	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	21223;14726;14918;14851;14724	ENSP00000343764:L21223F;ENSP00000434586:L14726F;ENSP00000340554:L14918F;ENSP00000352154:L14851F	ENSP00000340554:L14918F	L	-	1	0	TTN	179147734	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.864000	0.87037	2.647000	0.89833	0.650000	0.86243	CTT		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	119	0	0	0	0.150653	0	3	119					A	179439488	G	A	179439488	3	1	71	1	0	0	0	0	1	0	0	0	16732	1000	35	2	36756	2	TTN	2	179439488	Missense_Mutation	SNP	G	TCGA-DJ-A13O-01A-11D-A10S-08		179439488	63759885	4	1632											
MYLK	4638	broad.mit.edu	37	chr3	123419239	123419239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaggcttggcgttgcccaCgggtttcaagggccctgaag	15	11	1	1			TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr3:123419239C>T	ENST00000475616.1	-	15	3075	c.3076G>A	c.(3076-3078)Gtg>Atg	p.V1026M	MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000360772.3_Missense_Mutation_p.V1026M|MYLK_ENST00000346322.5_Missense_Mutation_p.V957M|MYLK_ENST00000359169.1_Missense_Mutation_p.V1026M|MYLK_ENST00000360304.3_Missense_Mutation_p.V1026M			Q15746	MYLK_HUMAN	myosin light chain kinase	1026	6 X 12 AA approximate tandem repeats.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GCGTTGCCCACGGGTTTCAAG	0.602																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(3076-3078)Gtg>Atg		myosin light chain kinase							115	120	119					3																	123419239		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123419239C>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3076G>A	3.37:g.123419239C>T	ENSP00000418335:p.Val1026Met					MYLK_ENST00000360304.3_Missense_Mutation_p.V1026M|MYLK_ENST00000346322.5_Missense_Mutation_p.V957M|MYLK_ENST00000359169.1_Missense_Mutation_p.V1026M|MYLK_ENST00000475616.1_Missense_Mutation_p.V1026M	p.V1026M			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	19	3454	-		Lung NSC(201;0.0496)	1026			6 X 12 AA approximate tandem repeats.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.3076G>A	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	C	0.030	-1.342856	0.01277	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.66638	-0.22;-0.17;-0.22;-0.16;-0.17	5.53	-11.1	0.00147	.	.	.	.	.	T	0.39172	0.1068	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B;B	0.28026	0.009;0.013;0.099;0.198;0.045;0.009	B;B;B;B;B;B	0.20384	0.005;0.003;0.014;0.029;0.009;0.004	T	0.08351	-1.0726	9	0.21540	T	0.41	.	6.6765	0.23098	0.0623:0.4359:0.2795:0.2223	.	1026;104;957;1026;957;1026	Q15746-6;Q15746-7;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;MYLK_HUMAN	M	1026;1026;1026;957;1026	ENSP00000354004:V1026M;ENSP00000353452:V1026M;ENSP00000352088:V1026M;ENSP00000320622:V957M;ENSP00000418335:V1026M	ENSP00000320622:V957M	V	-	1	0	MYLK	124901929	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	-3.773000	0.00370	-3.149000	0.00231	-0.505000	0.04504	GTG		0.602	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		5	250	0	0	0	0.184627	0	5	250					T	123419239	C	T	123419239	3	4	71	1	0	0	0	0	1	0	0	0	10056	536	19	1	2736	1	MYLK	3	123419239	Missense_Mutation	SNP	C	TCGA-DJ-A13O-01A-11D-A10S-08		123419239	74603191	5	1633											
CCDC110	256309	broad.mit.edu	37	chr4	186380647	186380647	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaaatctgtaatatttttgCcagtgatgggaatttcttta	7	4	2	1			TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr4:186380647C>T	ENST00000307588.3	-	6	1169	c.1094G>A	c.(1093-1095)gGc>gAc	p.G365D	CCDC110_ENST00000510617.1_Missense_Mutation_p.G365D|CCDC110_ENST00000393540.3_Missense_Mutation_p.G328D|CCDC110_ENST00000507501.1_5'Flank	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	365						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		AATATTTTTGCCAGTGATGGG	0.323																																						ENST00000307588.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30						c.(1093-1095)gGc>gAc		coiled-coil domain containing 110							138	145	142					4																	186380647		2203	4299	6502	SO:0001583	missense	256309					nucleus		g.chr4:186380647C>T	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"cancer/testis antigen 52"	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1094G>A	4.37:g.186380647C>T	ENSP00000306776:p.Gly365Asp					CCDC110_ENST00000510617.1_Missense_Mutation_p.G365D|CCDC110_ENST00000393540.3_Missense_Mutation_p.G328D	p.G365D	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	6	1169	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	365					Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	37	c.1094G>A	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	C	0.267	-0.995739	0.02145	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.05855	3.38;3.39;3.39	4.83	1.06	0.20224	.	1.031690	0.07655	N	0.932585	T	0.03695	0.0105	N	0.13043	0.29	0.20926	N	0.999826	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.47947	-0.9077	10	0.12430	T	0.62	0.6331	6.5267	0.22305	0.0:0.5718:0.0:0.4282	.	365;328;365	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	D	328;365;365	ENSP00000377172:G328D;ENSP00000306776:G365D;ENSP00000427246:G365D	ENSP00000306776:G365D	G	-	2	0	CCDC110	186617641	0.132000	0.22450	0.656000	0.29637	0.835000	0.47333	0.220000	0.17660	0.317000	0.23160	0.650000	0.86243	GGC		0.323	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		4	225	0	0	0	0.150653	0	4	225					T	186380647	C	T	186380647	3	4	71	1	0	0	0	0	1	0	0	0	2747	739	26	2	1415	2	CCDC110	4	186380647	Missense_Mutation	SNP	C	TCGA-DJ-A13O-01A-11D-A10S-08		186380647	4773629	6	1634											
BRD8	10902	broad.mit.edu	37	chr5	137504371	137504371	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtactcggcaaagtcccggGggttacctaagagacaacag	13	10	0	1			TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr5:137504371G>A	ENST00000254900.5	-	8	1014				BRD8_ENST00000402931.1_Intron|BRD8_ENST00000230901.5_Missense_Mutation_p.P217S|BRD8_ENST00000411594.2_Missense_Mutation_p.P217S|BRD8_ENST00000455658.2_Intron	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8						cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AAAGTCCCGGGGGTTACCTAA	0.483																																						ENST00000230901.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35						c.(649-651)Ccc>Tcc		bromodomain containing 8							28	30	29					5																	137504371		2203	4300	6503	SO:0001627	intron_variant	10902				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	g.chr5:137504371G>A	AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.642+539C>T	5.37:g.137504371G>A						BRD8_ENST00000254900.5_Intron|BRD8_ENST00000411594.2_Missense_Mutation_p.P217S|BRD8_ENST00000455658.2_Intron|BRD8_ENST00000402931.1_Intron	p.P217S	NM_006696.3	NP_006687.3	Q9H0E9	BRD8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		9	664	-			177					O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	ENST00000254900.5	37	c.649C>T	CCDS4198.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.285272	0.23478	.	.	ENSG00000112983	ENST00000454473;ENST00000418329;ENST00000230901;ENST00000411594;ENST00000239899	T;T;T;T	0.30714	1.52;1.52;1.69;1.52	6.17	6.17	0.99709	.	.	.	.	.	T	0.30103	0.0754	N	0.19112	0.55	0.80722	D	1	P;P;P;P	0.50819	0.9;0.939;0.939;0.939	B;P;P;P	0.49708	0.288;0.482;0.62;0.482	T	0.01273	-1.1399	9	0.44086	T	0.13	.	14.9956	0.71428	0.0:0.1421:0.8579:0.0	.	217;217;77;217	A8K1N6;Q9H0E9-4;Q9H0E9-3;Q9H0E9-2	.;.;.;.	S	212;212;217;217;77	ENSP00000398067:P212S;ENSP00000398873:P212S;ENSP00000230901:P217S;ENSP00000394330:P217S	ENSP00000230901:P217S	P	-	1	0	BRD8	137532270	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.657000	0.61490	2.941000	0.99782	0.655000	0.94253	CCC		0.483	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696		7	50	0	0	0	0.248553	0	7	50					A	137504371	G	A	137504371	1	1	71	0	1	0	0	0	0	0	0	0	1506	1232	43	2		2	BRD8	5	137504371	Intron	SNP	G	TCGA-DJ-A13O-01A-11D-A10S-08		137504371	43410889	7	1635											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		14	95	0	0	0	0.479597	0	14	95					T	140453136	A	T	140453136	3	4	71	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A13O-01A-11D-A10S-08		140453136	18685527	8	1636											
NCBP1	4686	broad.mit.edu	37	chr9	100407439	100407439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaattgtcatgtgattgCcgccccatcaatggttgcta	10	9	2	2			TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr9:100407439C>T	ENST00000375147.3	+	5	678	c.422C>T	c.(421-423)gCc>gTc	p.A141V		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	141	MIF4G.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				CATGTGATTGCCGCCCCATCA	0.383																																					Ovarian(36;879 898 2893 44212 50307)	ENST00000375147.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19						c.(421-423)gCc>gTc		nuclear cap binding protein subunit 1, 80kDa							151	144	146					9																	100407439		2203	4300	6503	SO:0001583	missense	4686				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding	g.chr9:100407439C>T	BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"nuclear cap binding protein subunit 1, 80kD"	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.422C>T	9.37:g.100407439C>T	ENSP00000364289:p.Ala141Val						p.A141V	NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN			5	678	+		Acute lymphoblastic leukemia(62;0.158)	141			MIF4G.		B2R718|Q59G76|Q5T1V0|Q5T7X2	Missense_Mutation	SNP	ENST00000375147.3	37	c.422C>T	CCDS6728.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.788763	0.70337	.	.	ENSG00000136937	ENST00000375147	T	0.22539	1.95	5.64	4.74	0.60224	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.26011	0.0634	L	0.51422	1.61	0.80722	D	1	B	0.26318	0.146	B	0.33568	0.166	T	0.03945	-1.0990	10	0.44086	T	0.13	-17.0972	16.0139	0.80422	0.1357:0.8643:0.0:0.0	.	141	Q09161	NCBP1_HUMAN	V	141	ENSP00000364289:A141V	ENSP00000364289:A141V	A	+	2	0	NCBP1	99447260	1.000000	0.71417	0.985000	0.45067	0.766000	0.43426	7.502000	0.81614	1.515000	0.48885	0.650000	0.86243	GCC		0.383	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053337.1	NM_002486		4	181	0	0	0	0.150653	0	4	181					T	100407439	C	T	100407439	3	4	71	1	0	0	0	0	1	0	0	0	10211	739	26	2	440	2	NCBP1	9	100407439	Missense_Mutation	SNP	C	TCGA-DJ-A13O-01A-11D-A10S-08		100407439	40805992	9	1637											
NAV2	89797	broad.mit.edu	37	chr11	20113839	20113839	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgggctccttcccaagtgTccatctctgcctccccgagg	10	18	1	0			TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr11:20113839T>C	ENST00000396087.3	+	31	6016	c.5917T>C	c.(5917-5919)Tcc>Ccc	p.S1973P	NAV2_ENST00000533917.1_Missense_Mutation_p.S978P|NAV2_ENST00000360655.4_Missense_Mutation_p.S1850P|NAV2_ENST00000540292.1_Missense_Mutation_p.S1904P|NAV2_ENST00000527559.2_Missense_Mutation_p.S1902P|NAV2_ENST00000349880.4_Missense_Mutation_p.S1914P|NAV2_ENST00000396085.1_Missense_Mutation_p.S1917P|NAV2_ENST00000311043.8_Missense_Mutation_p.S978P	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1973					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						TTCCCAAGTGTCCATCTCTGC	0.567																																						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.(5749-5751)Tcc>Ccc		neuron navigator 2							79	84	82					11																	20113839		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20113839T>C	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.5917T>C	11.37:g.20113839T>C	ENSP00000379396:p.Ser1973Pro					NAV2_ENST00000533917.1_Missense_Mutation_p.S978P|NAV2_ENST00000540292.1_Missense_Mutation_p.S1904P|NAV2_ENST00000396087.3_Missense_Mutation_p.S1973P|NAV2_ENST00000527559.2_Missense_Mutation_p.S1902P|NAV2_ENST00000311043.8_Missense_Mutation_p.S978P|NAV2_ENST00000360655.4_Missense_Mutation_p.S1850P|NAV2_ENST00000349880.4_Missense_Mutation_p.S1914P	p.S1917P	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			29	6110	+			1973					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.5749T>C	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.353123	0.82132	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000311043	T;T;T;T;T;T;T;T	0.38401	1.14;1.21;1.24;1.28;1.17;1.17;2.77;2.77	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000002	T	0.49098	0.1537	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;P	0.85130	0.987;0.997;0.991;0.876	T	0.38243	-0.9670	9	.	.	.	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	1917;978;1914;1850	A7E2D6;Q8IVL1-5;Q8IVL1-3;Q8IVL1-4	.;.;.;.	P	1850;1917;1914;1973;1902;1904;978;978	ENSP00000353871:S1850P;ENSP00000379394:S1917P;ENSP00000309577:S1914P;ENSP00000379396:S1973P;ENSP00000435395:S1902P;ENSP00000443489:S1904P;ENSP00000437316:S978P;ENSP00000312169:S978P	.	S	+	1	0	NAV2	20070415	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	TCC		0.567	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		3	147	0	0	0	0.150653	0	3	147					C	20113839	T	C	20113839	3	2	71	1	0	0	0	0	1	0	0	0	10184	1667	58	3	5968	3	NAV2	11	20113839	Missense_Mutation	SNP	T	TCGA-DJ-A13O-01A-11D-A10S-08		20113839	114892677	10	1638											
PRICKLE1	144165	broad.mit.edu	37	chr12	42860031	42860031	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtttcacagtactccgcaTagagagactcaaaacagcca	8	11	2	2			TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr12:42860031T>C	ENST00000455697.1	-	6	1025	c.740A>G	c.(739-741)tAt>tGt	p.Y247C	PRICKLE1_ENST00000445766.2_Missense_Mutation_p.Y247C|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.Y247C|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.Y247C|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.Y247C	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	247	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GTACTCCGCATAGAGAGACTC	0.522																																						ENST00000455697.1																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						c.(739-741)tAt>tGt		prickle homolog 1 (Drosophila)							78	74	75					12																	42860031		2203	4300	6503	SO:0001583	missense	0				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	g.chr12:42860031T>C	AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"prickle-like 1 (Drosophila)"			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.740A>G	12.37:g.42860031T>C	ENSP00000401060:p.Tyr247Cys					PRICKLE1_ENST00000445766.2_Missense_Mutation_p.Y247C|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.Y247C|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.Y247C|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.Y247C	p.Y247C	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN		GBM - Glioblastoma multiforme(48;0.2)	6	1025	-	all_cancers(12;4.25e-05)|Breast(8;0.176)		247			LIM zinc-binding 2.		Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	37	c.740A>G	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.609051	0.87258	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32	5.18	5.18	0.71444	Zinc finger, LIM-type (2);	0.000000	0.85682	D	0.000000	D	0.93184	0.7829	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94086	0.7348	10	0.87932	D	0	-3.2687	15.3353	0.74247	0.0:0.0:0.0:1.0	.	247	Q96MT3	PRIC1_HUMAN	C	247	ENSP00000401060:Y247C;ENSP00000398947:Y247C;ENSP00000448359:Y247C;ENSP00000345064:Y247C;ENSP00000449819:Y247C	ENSP00000345064:Y247C	Y	-	2	0	PRICKLE1	41146298	1.000000	0.71417	0.834000	0.33040	0.995000	0.86356	7.997000	0.88414	2.094000	0.63399	0.459000	0.35465	TAT		0.522	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			12	57	0	0	0	0.38729	0	12	57					C	42860031	T	C	42860031	3	2	71	1	0	0	0	0	1	0	0	0	12486	1406	49	3	1767	3	PRICKLE1	12	42860031	Missense_Mutation	SNP	T	TCGA-DJ-A13O-01A-11D-A10S-08		42860031	90991864	11	1639											
ANAPC5	51433	broad.mit.edu	37	chr12	121766258	121766258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccgtcttcccagcaaaagCtctctgttgaacaagggact	9	12	2	1			TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr12:121766258C>T	ENST00000261819.3	-	10	1286	c.1165G>A	c.(1165-1167)Gct>Act	p.A389T	ANAPC5_ENST00000441917.2_Missense_Mutation_p.A277T|ANAPC5_ENST00000344395.4_Missense_Mutation_p.A277T|ANAPC5_ENST00000541887.1_Missense_Mutation_p.A376T|ANAPC5_ENST00000536366.1_Silent_p.E210E|ANAPC5_ENST00000535482.1_Missense_Mutation_p.A55T|ANAPC5_ENST00000544314.1_5'UTR	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	389					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCAGCAAAAGCTCTCTGTTGA	0.488																																						ENST00000261819.3																			0				breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31						c.(1165-1167)Gct>Act		anaphase promoting complex subunit 5							125	101	109					12																	121766258		2203	4300	6503	SO:0001583	missense	51433				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr12:121766258C>T	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"Anaphase promoting complex subunits"	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.1165G>A	12.37:g.121766258C>T	ENSP00000261819:p.Ala389Thr					ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000536366.1_Silent_p.E210E|ANAPC5_ENST00000541887.1_Missense_Mutation_p.A376T|ANAPC5_ENST00000344395.4_Missense_Mutation_p.A277T|ANAPC5_ENST00000535482.1_Missense_Mutation_p.A55T|ANAPC5_ENST00000441917.2_Missense_Mutation_p.A277T	p.A389T	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN			10	1286	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		389					E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	ENST00000261819.3	37	c.1165G>A	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	C	35	5.431404	0.96150	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000344395	.	.	.	5.74	5.74	0.90152	.	0.045011	0.85682	D	0.000000	T	0.66839	0.2830	L	0.32530	0.975	0.80722	D	1	D;D;D	0.69078	0.997;0.987;0.995	D;P;P	0.63283	0.913;0.755;0.82	T	0.69018	-0.5256	9	0.87932	D	0	.	18.9239	0.92537	0.0:1.0:0.0:0.0	.	55;277;389	F5H0N1;E9PFB2;Q9UJX4	.;.;APC5_HUMAN	T	277;376;389;55;277	.	ENSP00000261819:A389T	A	-	1	0	ANAPC5	120250641	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.077000	0.76814	2.715000	0.92844	0.655000	0.94253	GCT		0.488	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			8	60	0	0	0	0.335167	0	8	60					T	121766258	C	T	121766258	3	4	71	1	0	0	0	0	1	0	0	0	605	797	28	2	1134	2	ANAPC5	12	121766258	Missense_Mutation	SNP	C	TCGA-DJ-A13O-01A-11D-A10S-08	78906227	121766258	12085637	12	1640											
PCDH8	5100	broad.mit.edu	37	chr13	53421761	53421761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtccctcgtcggggtcggCtgcgtccaggtcgagaagca	16	12	0	1			TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr13:53421761C>T	ENST00000377942.3	-	1	1014	c.811G>A	c.(811-813)Gcc>Acc	p.A271T	PCDH8_ENST00000338862.4_Missense_Mutation_p.A271T	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	271	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TCGGGGTCGGCTGCGTCCAGG	0.716																																					GBM(36;25 841 9273 49207)	ENST00000377942.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36						c.(811-813)Gcc>Acc		protocadherin 8							6	6	6					13																	53421761		1976	3959	5935	SO:0001583	missense	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53421761C>T	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"Cadherins / Protocadherins : Non-clustered"	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.811G>A	13.37:g.53421761C>T	ENSP00000367177:p.Ala271Thr					PCDH8_ENST00000338862.4_Missense_Mutation_p.A271T	p.A271T	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	1014	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	271			Cadherin 3.		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	c.811G>A	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	C	0.026	-1.367176	0.01225	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000448969	T;T	0.43294	0.95;0.95	4.37	3.53	0.40419	Cadherin (5);Cadherin-like (1);	0.000000	0.43919	D	0.000517	T	0.10723	0.0262	N	0.00368	-1.59	0.09310	N	1	B;B	0.19445	0.036;0.016	B;B	0.21360	0.034;0.034	T	0.32719	-0.9896	10	0.02654	T	1	.	11.6473	0.51269	0.0:0.9133:0.0:0.0867	.	271;271	O95206-2;O95206	.;PCDH8_HUMAN	T	271	ENSP00000367177:A271T;ENSP00000341350:A271T	ENSP00000341350:A271T	A	-	1	0	PCDH8	52319762	0.021000	0.18746	0.941000	0.38009	0.300000	0.27592	1.871000	0.39539	1.064000	0.40671	-0.448000	0.05591	GCC		0.716	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		2	4	0	0	0	0.115264	0	2	4					T	53421761	C	T	53421761	3	4	71	1	0	0	0	0	1	0	0	0	11517	797	28	2	2413	2	PCDH8	13	53421761	Missense_Mutation	SNP	C	TCGA-DJ-A13O-01A-11D-A10S-08		53421761	61748117	13	1641											
LRRC37B	114659	broad.mit.edu	37	chr17	30349698	30349698	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgaaactgcaccagaggaAcagaaggcctccacaagcac	9	13	1	3			TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr17:30349698A>G	ENST00000341671.7	+	1	1538	c.1533A>G	c.(1531-1533)gaA>gaG	p.E511E	LRRC37B_ENST00000581786.1_3'UTR|LRRC37B_ENST00000543378.2_Silent_p.E429E|LRRC37B_ENST00000327564.7_Silent_p.E538E|LRRC37B_ENST00000584368.1_Silent_p.E523E|LRRC37B_ENST00000394713.3_Silent_p.E511E	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	511						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				CACCAGAGGAACAGAAGGCCT	0.517																																						ENST00000327564.7																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(1612-1614)gaA>gaG		leucine rich repeat containing 37B							86	80	82					17																	30349698		2202	4299	6501	SO:0001819	synonymous_variant	114659					integral to membrane		g.chr17:30349698A>G	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"KIAA0563-related"					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.1533A>G	17.37:g.30349698A>G						LRRC37B_ENST00000584368.1_Silent_p.E523E|LRRC37B_ENST00000394713.3_Silent_p.E511E|LRRC37B_ENST00000581786.1_3'UTR|LRRC37B_ENST00000543378.2_Silent_p.E429E|LRRC37B_ENST00000341671.7_Silent_p.E511E	p.E538E			Q96QE4	LR37B_HUMAN			1	1675	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	511					Q17RC9|Q5YKG6	Silent	SNP	ENST00000341671.7	37	c.1614A>G	CCDS32609.1																																																																																				0.517	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		3	178	0	0	0	0.115264	0	3	178					G	30349698	A	G	30349698	2	3	71	1	0	0	0	0	0	0	0	1	8994	40	2	3		3	LRRC37B	17	30349698	Silent	SNP	A	TCGA-DJ-A13O-01A-11D-A10S-08		30349698	50845512	14	1642											
KRTAP4-7	100132476	broad.mit.edu	37	chr17	39240794	39240794	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcccacctgctgccgcccCagctgctgccgcccctgctg	10	22	0	0	rs9894106|rs553572799	byFrequency	TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr17:39240794C>A	ENST00000391417.4	+	1	336	c.336C>A	c.(334-336)ccC>ccA	p.P112P		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	137	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		Missing. {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.R111_C115delRPSCC(1)|p.P112P(1)|p.?(1)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						gctgccgccccagctgctgcc	0.667																																						ENST00000391417.4																			3	Unknown(1)|Substitution - coding silent(1)|Deletion - In frame(1)	p.R111_C115delRPSCC(1)|p.P112P(1)|p.?(1)	NS(2)|prostate(1)	NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(334-336)ccC>ccA		keratin associated protein 4-7							13	14	14					17																	39240794		691	1589	2280	SO:0001819	synonymous_variant	100132476							g.chr17:39240794C>A	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"Keratin associated proteins"	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.336C>A	17.37:g.39240794C>A							p.P112P	NM_033061.3	NP_149050.3					1	336	+								A0AVM6|A8MQ08|A8MTL4	Silent	SNP	ENST00000391417.4	37	c.336C>A	CCDS45673.1																																																																																				0.667	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			3	16	1	0	6.4e-05	0.115264	7.25333e-05	3	16					A	39240794	C	A	39240794	2	1	71	1	0	0	0	0	0	0	0	1	8555	581	21	4		4	KRTAP4-7	17	39240794	Silent	SNP	C	TCGA-DJ-A13O-01A-11D-A10S-08	8891096	39240794	41954416	15	1643											
UNC13A	23025	broad.mit.edu	37	chr19	17728579	17728579	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcgtgtagagcgacaggGcatagcgcaaggattgcagg	16	9	0	1			TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr19:17728579G>A	ENST00000519716.2	-	41	4489	c.4490C>T	c.(4489-4491)gCc>gTc	p.A1497V	UNC13A_ENST00000550896.1_Missense_Mutation_p.A1470V|UNC13A_ENST00000552293.1_Missense_Mutation_p.A1472V|UNC13A_ENST00000551649.1_Missense_Mutation_p.A1497V|UNC13A_ENST00000252773.7_Missense_Mutation_p.A1497V|UNC13A_ENST00000428389.2_Missense_Mutation_p.A1585V	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1497	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GAGCGACAGGGCATAGCGCAA	0.602																																						ENST00000428389.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(4753-4755)gCc>gTc		unc-13 homolog A (C. elegans)							101	110	107					19																	17728579		2089	4240	6329	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17728579G>A	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.4490C>T	19.37:g.17728579G>A	ENSP00000429562:p.Ala1497Val					UNC13A_ENST00000552293.1_Missense_Mutation_p.A1472V|UNC13A_ENST00000519716.2_Missense_Mutation_p.A1497V|UNC13A_ENST00000252773.7_Missense_Mutation_p.A1497V|UNC13A_ENST00000551649.1_Missense_Mutation_p.A1497V|UNC13A_ENST00000550896.1_Missense_Mutation_p.A1470V	p.A1585V			Q9UPW8	UN13A_HUMAN			42	4753	-			1497			C2 3.		E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.4754C>T	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945581	0.73672	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91;-0.91	4.01	4.01	0.46588	Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1);	0.000000	0.85682	D	0.000000	D	0.85314	0.5668	M	0.81682	2.555	0.58432	D	0.999998	D	0.89917	1.0	D	0.80764	0.994	D	0.86216	0.1628	10	0.45353	T	0.12	-26.2432	13.9609	0.64177	0.0:0.0:1.0:0.0	.	1497	Q9UPW8	UN13A_HUMAN	V	1497;1585;1497;1497;1472;1470	ENSP00000429562:A1497V;ENSP00000400409:A1585V;ENSP00000252773:A1497V;ENSP00000447236:A1497V;ENSP00000447572:A1472V;ENSP00000446831:A1470V	ENSP00000252773:A1497V	A	-	2	0	UNC13A	17589579	1.000000	0.71417	1.000000	0.80357	0.239000	0.25481	9.684000	0.98659	1.952000	0.56665	0.313000	0.20887	GCC		0.602	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		4	136	0	0	0	0.184627	0	4	136					A	17728579	G	A	17728579	3	1	71	1	0	0	0	0	1	0	0	0	16981	1203	42	2	637	2	UNC13A	19	17728579	Missense_Mutation	SNP	G	TCGA-DJ-A13O-01A-11D-A10S-08		17728579	41400404	16	1644											
CLCN6	1185	broad.mit.edu	37	chr1	11888618	11888618	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctgggagccacattcaactGtctgaacaagaggcttgcaa	10	11	2	2			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr1:11888618G>C	ENST00000346436.6	+	12	1110	c.1058G>C	c.(1057-1059)tGt>tCt	p.C353S	CLCN6_ENST00000376487.3_Missense_Mutation_p.C331S|CLCN6_ENST00000312413.6_Intron|CLCN6_ENST00000376492.3_Intron|CLCN6_ENST00000376496.3_Missense_Mutation_p.C353S	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	353					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ACATTCAACTGTCTGAACAAG	0.537																																						ENST00000346436.6																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36						c.(1057-1059)tGt>tCt		chloride channel, voltage-sensitive 6							177	188	184					1																	11888618		2203	4300	6503	SO:0001583	missense	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11888618G>C	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"Ion channels / Chloride channels : Voltage-sensitive"	2024	protein-coding gene	gene with protein product		602726	"chloride channel 6"			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.1058G>C	1.37:g.11888618G>C	ENSP00000234488:p.Cys353Ser					CLCN6_ENST00000376496.3_Missense_Mutation_p.C353S|CLCN6_ENST00000312413.6_Intron|CLCN6_ENST00000376492.3_Intron|CLCN6_ENST00000376487.3_Missense_Mutation_p.C331S	p.C353S	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	12	1110	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	353					A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	c.1058G>C	CCDS138.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.821060	0.50633	.	.	ENSG00000011021	ENST00000346436;ENST00000376487;ENST00000376496	D;D;D	0.93659	-3.26;-3.26;-3.26	6.07	6.07	0.98685	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.86443	0.5934	N	0.05414	-0.055	0.80722	D	1	B;B	0.17465	0.022;0.011	B;B	0.15052	0.006;0.012	T	0.80511	-0.1350	10	0.20046	T	0.44	-19.9849	19.6321	0.95713	0.0:0.0:1.0:0.0	.	331;353	F8W9R3;P51797	.;CLCN6_HUMAN	S	353;331;353	ENSP00000234488:C353S;ENSP00000365670:C331S;ENSP00000365679:C353S	ENSP00000234488:C353S	C	+	2	0	CLCN6	11811205	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.884000	0.98904	0.655000	0.94253	TGT		0.537	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		4	399	0	0	0	0.014758	0	4	399					C	11888618	G	C	11888618	3	2	72	1	0	0	0	0	1	0	0	0	3467	1377	48	4	1114	4	CLCN6	1	11888618	Missense_Mutation	SNP	G	TCGA-DJ-A13P-01A-11D-A10S-08		11888618	237362003	1	1645											
PPOX	5498	broad.mit.edu	37	chr1	161140206	161140206	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tccttctctccagggatttgGacatttggtgccatcttcag	9	11	3	0			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr1:161140206G>C	ENST00000367999.4	+	10	1261	c.995G>C	c.(994-996)gGa>gCa	p.G332A	PPOX_ENST00000535223.1_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.G332A|B4GALT3_ENST00000470882.1_5'Flank|PPOX_ENST00000432542.2_Missense_Mutation_p.G77A|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000495483.1_3'UTR	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	332			G -> A (in VP; abolishes activity; impairs protein folding and/or stability). {ECO:0000269|PubMed:18570668, ECO:0000269|PubMed:23430901}.		heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CAGGGATTTGGACATTTGGTG	0.557																																						ENST00000367999.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15						c.(994-996)gGa>gCa		protoporphyrinogen oxidase							88	82	84					1																	161140206		2203	4300	6503	SO:0001583	missense	5498				heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity	g.chr1:161140206G>C	BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"variegate porphyria"	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.995G>C	1.37:g.161140206G>C	ENSP00000356978:p.Gly332Ala					PPOX_ENST00000544598.1_Intron|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Missense_Mutation_p.G77A|PPOX_ENST00000352210.5_Missense_Mutation_p.G332A|PPOX_ENST00000495483.1_3'UTR	p.G332A	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		10	1261	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		332					D3DVG0|Q5VTW8	Missense_Mutation	SNP	ENST00000367999.4	37	c.995G>C	CCDS1221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.56|18.56	3.650072|3.650072	0.67472|0.67472	.|.	.|.	ENSG00000143224|ENSG00000143224	ENST00000537523;ENST00000537829|ENST00000352210;ENST00000367999;ENST00000435935;ENST00000432542	.|D;D;D	.|0.99748	.|-6.62;-6.62;-6.62	5.43|5.43	5.43|5.43	0.79202|0.79202	.|Amine oxidase (1);	.|0.110089	.|0.64402	.|D	.|0.000008	D|D	0.99796|0.99796	0.9913|0.9913	M|M	0.93720|0.93720	3.45|3.45	0.48040|0.48040	D|D	0.999574|0.999574	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.999	.|D;D;D;D	.|0.97110	.|1.0;0.999;0.962;0.972	D|D	0.97274|0.97274	0.9913|0.9913	5|10	.|0.72032	.|D	.|0.01	-8.1151|-8.1151	14.6179|14.6179	0.68562|0.68562	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|77;3;170;332	.|B4DQQ7;Q96SE3;B3KT30;P50336	.|.;.;.;PPOX_HUMAN	H|A	85;55|332;332;299;77	.|ENSP00000343943:G332A;ENSP00000356978:G332A;ENSP00000396841:G77A	.|ENSP00000343943:G332A	D|G	+|+	1|2	0|0	PPOX|PPOX	159406830|159406830	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	7.747000|7.747000	0.85070|0.85070	2.823000|2.823000	0.97156|0.97156	0.650000|0.650000	0.86243|0.86243	GAC|GGA		0.557	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082993.1	NM_000309		3	104	0	0	0	0.115264	0	3	104					C	161140206	G	C	161140206	3	2	72	1	0	0	0	0	1	0	0	0	12348	1174	41	4	1029	4	PPOX	1	161140206	Missense_Mutation	SNP	G	TCGA-DJ-A13P-01A-11D-A10S-08	149251588	161140206	88110415	2	1646											
LRRTM4	80059	broad.mit.edu	37	chr2	77746748	77746748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatataagctggttaaggcCggcaaactgattggatttga	11	7	0	2			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr2:77746748C>T	ENST00000409093.1	-	3	583	c.247G>A	c.(247-249)Ggc>Agc	p.G83S	LRRTM4_ENST00000409282.1_Missense_Mutation_p.G84S|LRRTM4_ENST00000409911.1_Missense_Mutation_p.G84S|LRRTM4_ENST00000409088.3_Missense_Mutation_p.G83S|LRRTM4_ENST00000409884.1_Missense_Mutation_p.G83S			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	83					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.G83C(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TGGTTAAGGCCGGCAAACTGA	0.403																																						ENST00000409088.3																			2	Substitution - Missense(2)	p.G83C(2)	lung(2)	autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64						c.(247-249)Ggc>Agc		leucine rich repeat transmembrane neuronal 4							131	124	126					2																	77746748		1902	4115	6017	SO:0001583	missense	80059					integral to membrane		g.chr2:77746748C>T	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.247G>A	2.37:g.77746748C>T	ENSP00000386357:p.Gly83Ser					LRRTM4_ENST00000409911.1_Missense_Mutation_p.G84S|LRRTM4_ENST00000409282.1_Missense_Mutation_p.G84S|LRRTM4_ENST00000409884.1_Missense_Mutation_p.G83S|LRRTM4_ENST00000409093.1_Missense_Mutation_p.G83S	p.G83S	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	661	-			83					Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.247G>A	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.406729	0.25378	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3	5.96	5.07	0.68467	.	0.154837	0.64402	N	0.000013	T	0.39627	0.1085	N	0.20881	0.62	0.58432	D	0.999991	P;B;B	0.37985	0.613;0.307;0.143	B;B;B	0.32211	0.142;0.087;0.057	T	0.24584	-1.0156	10	0.25106	T	0.35	.	12.6798	0.56916	0.0:0.9182:0.0:0.0818	.	84;83;83	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	S	84;83;83;83;84	ENSP00000387228:G84S;ENSP00000387297:G83S;ENSP00000386357:G83S;ENSP00000386236:G83S;ENSP00000386286:G84S	ENSP00000386236:G83S	G	-	1	0	LRRTM4	77600256	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	3.893000	0.56243	1.486000	0.48398	0.655000	0.94253	GGC		0.403	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		4	122	0	0	0	0.009096	0	4	122					T	77746748	C	T	77746748	3	4	72	1	0	0	0	0	1	0	0	0	9042	652	23	1	1539	1	LRRTM4	2	77746748	Missense_Mutation	SNP	C	TCGA-DJ-A13P-01A-11D-A10S-08		77746748	165452625	3	1647											
TBC1D5	9779	broad.mit.edu	37	chr3	17349528	17349528	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctacgaagatataatctActaaacccaggctgaggccg	10	10	1	2			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr3:17349528A>G	ENST00000253692.7	-	14	2758	c.1094T>C	c.(1093-1095)gTa>gCa	p.V365A	TBC1D5_ENST00000429383.4_Missense_Mutation_p.V365A|TBC1D5_ENST00000446818.2_Missense_Mutation_p.V365A|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429924.2_Missense_Mutation_p.V317A	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	365						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						GATATAATCTACTAAACCCAG	0.463																																						ENST00000253692.7																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						c.(1093-1095)gTa>gCa		TBC1 domain family, member 5							81	78	79					3																	17349528		2203	4300	6503	SO:0001583	missense	9779					intracellular	protein binding|Rab GTPase activator activity	g.chr3:17349528A>G	D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.1094T>C	3.37:g.17349528A>G	ENSP00000253692:p.Val365Ala					TBC1D5_ENST00000429924.2_Missense_Mutation_p.V317A|TBC1D5_ENST00000446818.2_Missense_Mutation_p.V365A|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429383.4_Missense_Mutation_p.V365A	p.V365A	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN			14	2758	-			365					A6NP25|C9JP52	Missense_Mutation	SNP	ENST00000253692.7	37	c.1094T>C	CCDS33714.1	.	.	.	.	.	.	.	.	.	.	A	17.55	3.417639	0.62622	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924	T;T;T;T	0.11385	2.78;2.78;2.78;2.78	5.55	5.55	0.83447	Rab-GAP/TBC domain (3);	0.000000	0.85682	D	0.000000	T	0.23766	0.0575	L	0.41710	1.295	0.80722	D	1	B;P;P	0.51240	0.372;0.943;0.94	P;P;P	0.62014	0.74;0.854;0.897	T	0.00415	-1.1753	10	0.66056	D	0.02	-17.9645	15.6976	0.77512	1.0:0.0:0.0:0.0	.	317;365;365	C9J3F6;C9JP52;Q92609	.;.;TBCD5_HUMAN	A	365;365;365;317	ENSP00000253692:V365A;ENSP00000398127:V365A;ENSP00000402935:V365A;ENSP00000411925:V317A	ENSP00000253692:V365A	V	-	2	0	TBC1D5	17324532	1.000000	0.71417	0.113000	0.21522	0.443000	0.32047	9.173000	0.94815	2.115000	0.64714	0.477000	0.44152	GTA		0.463	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3	NM_014744		3	83	0	0	0	0.115264	0	3	83					G	17349528	A	G	17349528	3	3	72	1	0	0	0	0	1	0	0	0	15620	391	14	3	1399	3	TBC1D5	3	17349528	Missense_Mutation	SNP	A	TCGA-DJ-A13P-01A-11D-A10S-08		17349528	180672902	4	1648											
HNRPDL	9987	broad.mit.edu	37	chr4	83349287	83349287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taaagctttggcccttttggGatctatcaatttgccatcca	7	10	2	0			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr4:83349287G>A	ENST00000295470.5	-	3	833	c.658C>T	c.(658-660)Ccc>Tcc	p.P220S	ENOPH1_ENST00000273920.3_5'Flank|HNRNPDL_ENST00000349655.4_Missense_Mutation_p.P101S|ENOPH1_ENST00000509635.1_5'Flank|HNRNPDL_ENST00000502762.1_Missense_Mutation_p.P220S|HNRNPDL_ENST00000602300.1_Missense_Mutation_p.P101S|HNRNPDL_ENST00000514511.1_Intron	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	220	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)										GCCCTTTTGGGATCTATCAAT	0.373																																						ENST00000295470.5																			0											c.(658-660)Ccc>Tcc		heterogeneous nuclear ribonucleoprotein D-like							96	99	98					4																	83349287		2203	4300	6503	SO:0001583	missense	9987							g.chr4:83349287G>A	D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"RNA binding motif (RRM) containing"	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.658C>T	4.37:g.83349287G>A	ENSP00000295470:p.Pro220Ser					HNRNPDL_ENST00000514511.1_Intron|HNRNPDL_ENST00000349655.4_Missense_Mutation_p.P101S|HNRNPDL_ENST00000602300.1_Missense_Mutation_p.P101S|HNRNPDL_ENST00000502762.1_Missense_Mutation_p.P220S	p.P220S	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1					3	833	-								Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Missense_Mutation	SNP	ENST00000295470.5	37	c.658C>T	CCDS3593.1	.	.	.	.	.	.	.	.	.	.	g	20.5	4.001272	0.74818	.	.	ENSG00000152795	ENST00000295470;ENST00000502762;ENST00000349655	T;T;T	0.74106	-0.81;-0.81;-0.81	6.17	5.32	0.75619	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	D	0.86117	0.5856	M	0.81341	2.54	0.80722	D	1	D;B	0.65815	0.995;0.249	D;B	0.69142	0.962;0.186	D	0.87197	0.2238	10	0.87932	D	0	.	15.9972	0.80260	0.065:0.0:0.935:0.0	.	101;220	O14979-3;O14979	.;HNRDL_HUMAN	S	220;220;101	ENSP00000295470:P220S;ENSP00000422040:P220S;ENSP00000338552:P101S	ENSP00000295470:P220S	P	-	1	0	HNRPDL	83568311	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.373000	0.97168	2.941000	0.99782	0.655000	0.94253	CCC		0.373	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252644.1	NM_005463		6	120	0	0	0	0.021553	0	6	120					A	83349287	G	A	83349287	3	1	72	1	0	0	0	0	1	0	0	0	7276	1174	41	2	624	2	HNRPDL	4	83349287	Missense_Mutation	SNP	G	TCGA-DJ-A13P-01A-11D-A10S-08		83349287	107804989	5	1649											
C5orf42	65250	broad.mit.edu	37	chr5	37169637	37169637	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggctggccatttaattgacaTaaaggaatactcccatgtgg	10	8	0	1			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr5:37169637T>A	ENST00000508244.1	-	33	6582	c.6489A>T	c.(6487-6489)ttA>ttT	p.L2163F	C5orf42_ENST00000274258.7_Missense_Mutation_p.L1043F|C5orf42_ENST00000425232.2_Missense_Mutation_p.L2163F			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2163						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTAATTGACATAAAGGAATAC	0.368																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(3127-3129)ttA>ttT		chromosome 5 open reading frame 42							66	69	68					5																	37169637		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37169637T>A		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.6489A>T	5.37:g.37169637T>A	ENSP00000421690:p.Leu2163Phe					C5orf42_ENST00000425232.2_Missense_Mutation_p.L2163F|C5orf42_ENST00000508244.1_Missense_Mutation_p.L2163F	p.L1043F			E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		34	6716	-	all_lung(31;0.000616)		2163					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.3129A>T	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	T	16.40	3.112594	0.56398	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.27402	1.71;1.71;1.67;1.69	5.39	-4.43	0.03568	.	1.265550	0.05870	N	0.624454	T	0.17408	0.0418	N	0.20986	0.625	0.09310	N	1	B;B	0.14438	0.005;0.01	B;B	0.11329	0.004;0.006	T	0.29941	-0.9995	10	0.45353	T	0.12	.	4.4666	0.11692	0.4596:0.2531:0.0:0.2873	.	2163;1043	E9PH94;Q9H799	.;CE042_HUMAN	F	2163;2163;1043;1211;1043	ENSP00000421690:L2163F;ENSP00000389014:L2163F;ENSP00000274258:L1043F;ENSP00000424223:L1211F	ENSP00000274258:L1043F	L	-	3	2	C5orf42	37205394	0.001000	0.12720	0.000000	0.03702	0.436000	0.31835	0.039000	0.13884	-0.668000	0.05296	0.533000	0.62120	TTA		0.368	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		40	63	0	0	0	0.117977	0	40	63					A	37169637	T	A	37169637	3	1	72	1	0	0	0	0	1	0	0	0	2301	1403	49	5	3180	5	C5orf42	5	37169637	Missense_Mutation	SNP	T	TCGA-DJ-A13P-01A-11D-A10S-08		37169637	143745623	6	1650											
STXBP5	134957	broad.mit.edu	37	chr6	147685192	147685192	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttgccccttaccaatatgCggatagccagaacgttctgc	8	13	1	1			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr6:147685192C>T	ENST00000321680.6	+	25	2971	c.2971C>T	c.(2971-2973)Cgg>Tgg	p.R991W	STXBP5_ENST00000367481.3_Missense_Mutation_p.R955W|STXBP5_ENST00000179882.6_Missense_Mutation_p.R646W|STXBP5_ENST00000367480.3_Missense_Mutation_p.R938W	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	991					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)	p.R955W(1)|p.R991W(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TACCAATATGCGGATAGCCAG	0.363																																						ENST00000367481.3																			2	Substitution - Missense(2)	p.R955W(1)|p.R991W(1)	kidney(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42						c.(2863-2865)Cgg>Tgg		syntaxin binding protein 5 (tomosyn)							189	181	184					6																	147685192		2203	4300	6503	SO:0001583	missense	0				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147685192C>T	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"WD repeat domain containing"	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.2971C>T	6.37:g.147685192C>T	ENSP00000321826:p.Arg991Trp					STXBP5_ENST00000367480.3_Missense_Mutation_p.R938W|STXBP5_ENST00000321680.6_Missense_Mutation_p.R991W|STXBP5_ENST00000179882.6_Missense_Mutation_p.R646W	p.R955W	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	23	2971	+		Ovarian(120;0.0164)	991					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	c.2863C>T	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218984	0.79464	.	.	ENSG00000164506	ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	5.84	2.77	0.32553	Lethal giant larvae (Lgl)-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.39784	0.1091	M	0.81682	2.555	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	T	0.43556	-0.9384	10	0.72032	D	0.01	.	11.1257	0.48317	0.2422:0.6922:0.0:0.0656	.	955;991;646	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	W	955;991;938;646	ENSP00000356451:R955W;ENSP00000321826:R991W;ENSP00000356450:R938W;ENSP00000179882:R646W	ENSP00000179882:R646W	R	+	1	2	STXBP5	147726885	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.045000	0.57368	0.793000	0.33875	-0.182000	0.12963	CGG		0.363	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			5	296	0	0	0	0.02938	0	5	296					T	147685192	C	T	147685192	3	4	72	1	0	0	0	0	1	0	0	0	15355	759	27	1	3069	1	STXBP5	6	147685192	Missense_Mutation	SNP	C	TCGA-DJ-A13P-01A-11D-A10S-08		147685192	23429875	7	1651											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		49	81	0	0	0	0.139131	0	49	81					T	140453136	A	T	140453136	3	4	72	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A13P-01A-11D-A10S-08		140453136	18685527	8	1652											
ANXA1	301	broad.mit.edu	37	chr9	75775259	75775259	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctaaaaactccagcgcaAtttgatgctgatgaacttcg	8	10	0	3			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr9:75775259A>G	ENST00000376911.1	+	4	1233	c.351A>G	c.(349-351)caA>caG	p.Q117Q	ANXA1_ENST00000257497.6_Silent_p.Q117Q			P04083	ANXA1_HUMAN	annexin A1	117					alpha-beta T cell differentiation (GO:0046632)|arachidonic acid secretion (GO:0050482)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hydrogen peroxide (GO:0070301)|endocrine pancreas development (GO:0031018)|estrous cycle phase (GO:0060206)|gliogenesis (GO:0042063)|hepatocyte differentiation (GO:0070365)|inflammatory response (GO:0006954)|insulin secretion (GO:0030073)|keratinocyte differentiation (GO:0030216)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|neutrophil clearance (GO:0097350)|neutrophil homeostasis (GO:0001780)|peptide cross-linking (GO:0018149)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of neutrophil apoptotic process (GO:0033031)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of vesicle fusion (GO:0031340)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to interleukin-1 (GO:0070555)|response to peptide hormone (GO:0043434)|response to X-ray (GO:0010165)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cilium (GO:0005929)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)|phospholipid binding (GO:0005543)|protein binding, bridging (GO:0030674)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Amcinonide(DB00288)|Dexamethasone(DB01234)|Hydrocortisone(DB00741)	CTCCAGCGCAATTTGATGCTG	0.428																																						ENST00000376911.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8						c.(349-351)caA>caG		annexin A1	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)						107	107	107					9																	75775259		2203	4300	6503	SO:0001819	synonymous_variant	301				alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity	g.chr9:75775259A>G	X05908	CCDS6645.1	9q21.13	2013-02-25			ENSG00000135046	ENSG00000135046		"Annexins", "Endogenous ligands"	533	protein-coding gene	gene with protein product		151690		ANX1, LPC1		2936963	Standard	NM_000700		Approved		uc004ajf.1	P04083	OTTHUMG00000020016	ENST00000376911.1:c.351A>G	9.37:g.75775259A>G						ANXA1_ENST00000257497.6_Silent_p.Q117Q	p.Q117Q			P04083	ANXA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	4	1233	+		all_epithelial(88;2.54e-11)	117						Silent	SNP	ENST00000376911.1	37	c.351A>G	CCDS6645.1																																																																																				0.428	ANXA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052665.1	NM_000700		3	152	0	0	0	0.009096	0	3	152					G	75775259	A	G	75775259	2	3	72	1	0	0	0	0	0	0	0	1	714	98	4	3		3	ANXA1	9	75775259	Silent	SNP	A	TCGA-DJ-A13P-01A-11D-A10S-08		75775259	65438172	9	1653											
CD44	960	broad.mit.edu	37	chr11	35232956	35232956	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttggagttactgcagttacTgttggagattccaactctaa	9	7	1	1			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr11:35232956T>C	ENST00000428726.2	+	14	1893	c.1770T>C	c.(1768-1770)acT>acC	p.T590T	RP1-68D18.2_ENST00000510619.2_RNA|CD44_ENST00000360158.4_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000437706.2_Intron|CD44_ENST00000434472.2_Silent_p.T277T|CD44_ENST00000433354.2_Silent_p.T562T|CD44_ENST00000263398.6_Intron|CD44_ENST00000449691.2_Silent_p.T547T|CD44_ENST00000352818.4_Intron|RP1-68D18.4_ENST00000528869.1_RNA|CD44_ENST00000433892.2_Silent_p.T341T|CD44_ENST00000415148.2_Silent_p.T547T|CD44_ENST00000526669.2_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	590	Stem.				blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	CTGCAGTTACTGTTGGAGATT	0.398																																						ENST00000428726.2																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23						c.(1768-1770)acT>acC		CD44 molecule (Indian blood group)	Hyaluronidase(DB00070)						215	197	203					11																	35232956		2202	4298	6500	SO:0001819	synonymous_variant	960				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity	g.chr11:35232956T>C	M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"CD molecules", "Blood group antigens", "Proteoglycans / Cell surface : Other"	1681	protein-coding gene	gene with protein product	"hematopoietic cell E- and L-selectin ligand", "chondroitin sulfate proteoglycan 8"	107269	"CD44 antigen (homing function and Indian blood group system)"	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.1770T>C	11.37:g.35232956T>C						CD44_ENST00000449691.2_Silent_p.T547T|RP1-68D18.4_ENST00000528869.1_RNA|CD44_ENST00000437706.2_Intron|CD44_ENST00000434472.2_Silent_p.T277T|CD44_ENST00000433892.2_Silent_p.T341T|CD44_ENST00000433354.2_Silent_p.T562T|CD44_ENST00000526669.2_Intron|CD44_ENST00000415148.2_Silent_p.T547T|CD44_ENST00000360158.4_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000263398.6_Intron	p.T590T	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		14	1893	+	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	590			Stem.		A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Silent	SNP	ENST00000428726.2	37	c.1770T>C	CCDS7897.1																																																																																				0.398	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	NM_000610		8	262	0	0	0	0.038147	0	8	262					C	35232956	T	C	35232956	2	2	72	1	0	0	0	0	0	0	0	1	3017	1567	55	3		3	CD44	11	35232956	Silent	SNP	T	TCGA-DJ-A13P-01A-11D-A10S-08		35232956	99773560	10	1654											
MLL	4297	broad.mit.edu	37	chr11	118374769	118374769	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tccaaaaatctcacagttggAtggtgttgatgatgggacag	12	6	1	2			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr11:118374769A>T	ENST00000389506.5	+	27	8153	c.8153A>T	c.(8152-8154)gAt>gTt	p.D2718V	KMT2A_ENST00000534358.1_Missense_Mutation_p.D2721V|KMT2A_ENST00000354520.4_Missense_Mutation_p.D2680V			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2718		Cleavage; by TASP1, site 2.			anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TCACAGTTGGATGGTGTTGAT	0.428																																						ENST00000534358.1																			0											c.(8161-8163)gAt>gTt		lysine (K)-specific methyltransferase 2A							71	65	67					11																	118374769		2200	4296	6496	SO:0001583	missense	4297							g.chr11:118374769A>T	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.8153A>T	11.37:g.118374769A>T	ENSP00000374157:p.Asp2718Val					KMT2A_ENST00000354520.4_Missense_Mutation_p.D2680V|KMT2A_ENST00000389506.5_Missense_Mutation_p.D2718V	p.D2721V	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					27	8185	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.8162A>T	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	A	13.60	2.287019	0.40494	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.92595	-3.07;-3.07;-3.01	5.51	5.51	0.81932	.	0.098878	0.64402	D	0.000002	D	0.95401	0.8507	M	0.67569	2.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.95809	0.8840	10	0.87932	D	0	.	15.794	0.78394	1.0:0.0:0.0:0.0	.	2721;2718	E9PQG7;Q03164	.;MLL1_HUMAN	V	2721;2718;2680;1628	ENSP00000436786:D2721V;ENSP00000374157:D2718V;ENSP00000346516:D2680V	ENSP00000346516:D2680V	D	+	2	0	MLL	117879979	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.650000	0.91073	2.317000	0.78254	0.459000	0.35465	GAT		0.428	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		5	64	0	0	0	0.021553	0	5	64					T	118374769	A	T	118374769	3	4	72	1	0	0	0	0	1	0	0	0	9620	333	12	5	8259	5	MLL	11	118374769	Missense_Mutation	SNP	A	TCGA-DJ-A13P-01A-11D-A10S-08	83141813	118374769	16631747	11	1655											
HOXC12	3228	broad.mit.edu	37	chr12	54348806	54348806	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacttccccaacttccgcgcGtccggggcgcagcttcccgg	11	18	0	0			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr12:54348806G>T	ENST00000243103.3	+	1	189	c.93G>T	c.(91-93)gcG>gcT	p.A31A	AC012531.23_ENST00000603432.1_lincRNA	NM_173860.1	NP_776272.1	P31275	HXC12_HUMAN	homeobox C12	31					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						ACTTCCGCGCGTCCGGGGCGC	0.652																																						ENST00000243103.3																			0				large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						c.(91-93)gcG>gcT		homeobox C12							31	38	35					12																	54348806		2203	4300	6503	SO:0001819	synonymous_variant	3228				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54348806G>T	AF328962	CCDS8866.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123407	ENSG00000123407		"Homeoboxes / ANTP class : HOXL subclass"	5124	protein-coding gene	gene with protein product		142975	"homeo box C12"	HOX3, HOX3F, HOC3F		1973146, 1358459	Standard	NM_173860		Approved		uc010soq.2	P31275	OTTHUMG00000160010	ENST00000243103.3:c.93G>T	12.37:g.54348806G>T							p.A31A	NM_173860.1	NP_776272.1	P31275	HXC12_HUMAN			1	189	+			31					Q9BXJ6	Silent	SNP	ENST00000243103.3	37	c.93G>T	CCDS8866.1																																																																																				0.652	HOXC12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358868.2	NM_173860		6	45	1	0	5.18039e-06	0.038147	5.52575e-06	6	45					T	54348806	G	T	54348806	2	4	72	1	0	0	0	0	0	0	0	1	7311	1132	40	4		4	HOXC12	12	54348806	Silent	SNP	G	TCGA-DJ-A13P-01A-11D-A10S-08		54348806	79503089	12	1656											
ZFYVE26	23503	broad.mit.edu	37	chr14	68248225	68248225	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcatccttcacgggaaacAggtattgccaaccttctttg	8	11	2	0			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr14:68248225A>G	ENST00000347230.4	-	22	4532	c.4394T>C	c.(4393-4395)cTg>cCg	p.L1465P	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.L1465P	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1465					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CACGGGAAACAGGTATTGCCA	0.498																																						ENST00000347230.4																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(4393-4395)cTg>cCg		zinc finger, FYVE domain containing 26							95	92	93					14																	68248225		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68248225A>G	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.4394T>C	14.37:g.68248225A>G	ENSP00000251119:p.Leu1465Pro					ZFYVE26_ENST00000555452.1_Missense_Mutation_p.L1465P	p.L1465P	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	22	4532	-			1465					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.4394T>C	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.540998	0.85917	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.37752	1.35;1.18	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000001	T	0.60881	0.2303	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.64428	-0.6410	10	0.87932	D	0	-9.2215	16.2025	0.82095	1.0:0.0:0.0:0.0	.	1465;1465	G3V2D8;Q68DK2	.;ZFY26_HUMAN	P	1465;1444;1465	ENSP00000251119:L1465P;ENSP00000450603:L1465P	ENSP00000251119:L1465P	L	-	2	0	ZFYVE26	67317978	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.679000	0.91220	2.231000	0.72958	0.459000	0.35465	CTG		0.498	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		3	157	0	0	0	0.115264	0	3	157					G	68248225	A	G	68248225	3	3	72	1	0	0	0	0	1	0	0	0	17665	188	7	3	3309	3	ZFYVE26	14	68248225	Missense_Mutation	SNP	A	TCGA-DJ-A13P-01A-11D-A10S-08		68248225	39101315	13	1657											
NEO1	4756	broad.mit.edu	37	chr15	73528814	73528814	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacggagacaaccttacctActctgtgttctacaccaagg	7	13	3	1			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr15:73528814A>G	ENST00000339362.5	+	9	1865	c.1418A>G	c.(1417-1419)tAc>tGc	p.Y473C	NEO1_ENST00000558964.1_Missense_Mutation_p.Y473C|NEO1_ENST00000560262.1_Missense_Mutation_p.Y473C|NEO1_ENST00000261908.6_Missense_Mutation_p.Y473C|NEO1_ENST00000560352.1_3'UTR			Q92859	NEO1_HUMAN	neogenin 1	473	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						AACCTTACCTACTCTGTGTTC	0.562																																						ENST00000339362.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						c.(1417-1419)tAc>tGc		neogenin 1							181	149	160					15																	73528814		2198	4297	6495	SO:0001583	missense	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73528814A>G	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7754	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 2"	601907	"neogenin (chicken) homolog 1"			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.1418A>G	15.37:g.73528814A>G	ENSP00000341198:p.Tyr473Cys					NEO1_ENST00000560352.1_3'UTR|NEO1_ENST00000560262.1_Missense_Mutation_p.Y473C|NEO1_ENST00000261908.6_Missense_Mutation_p.Y473C|NEO1_ENST00000558964.1_Missense_Mutation_p.Y473C	p.Y473C			Q92859	NEO1_HUMAN			9	1865	+			473			Fibronectin type-III 1.		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	c.1418A>G	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	A	19.25	3.791756	0.70452	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.75050	-0.9;-0.9	6.05	6.05	0.98169	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.054961	0.85682	D	0.000000	D	0.90438	0.7006	H	0.95645	3.7	0.80722	D	1	P;D;D;D	0.76494	0.804;0.999;0.979;0.991	P;D;D;D	0.79784	0.669;0.993;0.968;0.947	D	0.93073	0.6484	10	0.87932	D	0	-12.0065	16.5932	0.84781	1.0:0.0:0.0:0.0	.	473;473;211;473	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	C	473;211;473	ENSP00000341198:Y473C;ENSP00000261908:Y473C	ENSP00000261908:Y473C	Y	+	2	0	NEO1	71315867	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.077000	0.76814	2.320000	0.78422	0.528000	0.53228	TAC		0.562	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		4	239	0	0	0	0.021553	0	4	239					G	73528814	A	G	73528814	3	3	72	1	0	0	0	0	1	0	0	0	10336	391	14	3	1448	3	NEO1	15	73528814	Missense_Mutation	SNP	A	TCGA-DJ-A13P-01A-11D-A10S-08		73528814	29002578	14	1658											
FAM64A	54478	broad.mit.edu	37	chr17	6348539	6348539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcctgtggtcagccatcagGagacctctgtaggggccctg	14	12	3	1			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr17:6348539G>A	ENST00000250056.8	+	2	192	c.109G>A	c.(109-111)Gag>Aag	p.E37K	FAM64A_ENST00000576056.1_Missense_Mutation_p.E37K|FAM64A_ENST00000570337.2_Missense_Mutation_p.E37K|FAM64A_ENST00000572447.1_Missense_Mutation_p.E37K|FAM64A_ENST00000571373.1_Missense_Mutation_p.E37K|FAM64A_ENST00000572595.2_Missense_Mutation_p.E37K	NM_001195228.1	NP_001182157.1	Q9BSJ6	FA64A_HUMAN	family with sequence similarity 64, member A	37					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				COAD - Colon adenocarcinoma(228;0.141)		CAGCCATCAGGAGACCTCTGT	0.647																																						ENST00000572447.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						c.(109-111)Gag>Aag		family with sequence similarity 64, member A							28	29	29					17																	6348539		2203	4300	6503	SO:0001583	missense	54478					nucleolus	protein binding	g.chr17:6348539G>A		CCDS32541.1, CCDS56016.1	17p13.2	2013-10-11			ENSG00000129195	ENSG00000129195			25483	protein-coding gene	gene with protein product	"CALM interacting protein expressed in thymus and spleen"					19383357, 16491119	Standard	NM_019013		Approved	FLJ10156, FLJ10491, CATS	uc002gcw.2	Q9BSJ6	OTTHUMG00000177832	ENST00000250056.8:c.109G>A	17.37:g.6348539G>A	ENSP00000250056:p.Glu37Lys					FAM64A_ENST00000576056.1_Missense_Mutation_p.E37K|FAM64A_ENST00000572595.2_Missense_Mutation_p.E37K|FAM64A_ENST00000571373.1_Missense_Mutation_p.E37K|FAM64A_ENST00000250056.8_Missense_Mutation_p.E37K|FAM64A_ENST00000570337.2_Missense_Mutation_p.E37K	p.E37K	NM_019013.2	NP_061886.2	Q9BSJ6	FA64A_HUMAN		COAD - Colon adenocarcinoma(228;0.141)	2	218	+			37					Q96CT4|Q9NVV1|Q9NWB5	Missense_Mutation	SNP	ENST00000250056.8	37	c.109G>A	CCDS56016.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.482282	0.44147	.	.	ENSG00000129195	ENST00000250056;ENST00000308855	T	0.56444	0.46	5.08	3.08	0.35506	.	0.712790	0.12957	N	0.425350	T	0.41236	0.1150	L	0.43152	1.355	0.09310	N	1	P;B	0.38048	0.616;0.447	B;B	0.39617	0.305;0.168	T	0.16600	-1.0397	10	0.14252	T	0.57	-9.026	6.7574	0.23523	0.0941:0.1788:0.7271:0.0	.	37;37	Q9BSJ6;Q9BSJ6-2	FA64A_HUMAN;.	K	37	ENSP00000250056:E37K	ENSP00000250056:E37K	E	+	1	0	FAM64A	6289263	0.177000	0.23109	0.002000	0.10522	0.022000	0.10575	2.085000	0.41634	0.725000	0.32318	0.655000	0.94253	GAG		0.647	FAM64A-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000439156.1	NM_019013		22	32	0	0	0	0.069288	0	22	32					A	6348539	G	A	6348539	3	1	72	1	0	0	0	0	1	0	0	0	5598	1175	41	2	111	2	FAM64A	17	6348539	Missense_Mutation	SNP	G	TCGA-DJ-A13P-01A-11D-A10S-08		6348539	74846671	15	1659											
GPATCH1	55094	broad.mit.edu	37	chr19	33592467	33592467	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccttggcttctaaaccttTatcttctaagaaagtaagaa	5	8	3	2			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr19:33592467T>C	ENST00000170564.2	+	9	1381	c.1067T>C	c.(1066-1068)tTa>tCa	p.L356S		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	356					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TCTAAACCTTTATCTTCTAAG	0.308																																					Pancreas(67;88 1713 4567 18227)	ENST00000170564.2																			0				breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40						c.(1066-1068)tTa>tCa		G patch domain containing 1							109	105	106					19																	33592467		2203	4300	6503	SO:0001583	missense	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33592467T>C	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"G patch domain containing"	24658	protein-coding gene	gene with protein product	"evolutionarily conserved G patch domain containing"			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.1067T>C	19.37:g.33592467T>C	ENSP00000170564:p.Leu356Ser						p.L356S	NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN			9	1381	+	Esophageal squamous(110;0.137)		356					Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	ENST00000170564.2	37	c.1067T>C	CCDS12428.1	.	.	.	.	.	.	.	.	.	.	T	5.798	0.331483	0.10956	.	.	ENSG00000076650	ENST00000170564	T	0.12774	2.65	5.64	4.62	0.57501	.	0.397513	0.28317	N	0.015793	T	0.06872	0.0175	N	0.20574	0.59	0.80722	D	1	B	0.13145	0.007	B	0.15052	0.012	T	0.26815	-1.0092	10	0.09338	T	0.73	-13.0817	5.3243	0.15898	0.0:0.2264:0.0:0.7736	.	356	Q9BRR8	GPTC1_HUMAN	S	356	ENSP00000170564:L356S	ENSP00000170564:L356S	L	+	2	0	GPATCH1	38284307	0.985000	0.35326	1.000000	0.80357	0.991000	0.79684	2.197000	0.42696	2.278000	0.76064	0.523000	0.50628	TTA		0.308	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		3	93	0	0	0	0.009096	0	3	93					C	33592467	T	C	33592467	3	2	72	1	0	0	0	0	1	0	0	0	6590	1764	61	3	1101	3	GPATCH1	19	33592467	Missense_Mutation	SNP	T	TCGA-DJ-A13P-01A-11D-A10S-08		33592467	25536516	16	1660											
LAMA5	3911	broad.mit.edu	37	chr20	60886750	60886750	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggcctcccaggaggagcctCgggggcccctcaggctgcgg	17	15	1	0	rs374794377		TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr20:60886750C>T	ENST00000252999.3	-	71	9792	c.9726G>A	c.(9724-9726)ccG>ccA	p.P3242P	LAMA5_ENST00000492698.1_5'Flank	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3242	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)			GGAGGAGCCTCGGGGGCCCCT	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.(9724-9726)ccG>ccA		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	T		2,4316		0,2,2157	9	9	9		9726	-6.7	0.0	20		9	2,8526		0,2,4262	no	coding-synonymous	LAMA5	NM_005560.3		0,4,6419	TT,TC,CC		0.0235,0.0463,0.0311		3242/3696	60886750	4,12842	2159	4264	6423	SO:0001819	synonymous_variant	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.chr20:60886750C>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.9726G>A	20.37:g.60886750C>T							p.P3242P	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		71	9792	-	Breast(26;1.57e-08)		3242			Laminin G-like 3.		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	c.9726G>A	CCDS33502.1																																																																																				0.667	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		5	5	0	0	0	0.021553	0	5	5					T	60886750	C	T	60886750	2	4	72	1	0	0	0	0	0	0	0	1	8609	871	31	1		1	LAMA5	20	60886750	Silent	SNP	C	TCGA-DJ-A13P-01A-11D-A10S-08		60886750	2138770	17	1661											
OFD1	8481	broad.mit.edu	37	chrX	13778527	13778527	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aacgcttggaaaaggctttcAgaagttaccatcggagagtc	11	8	1	2			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chrX:13778527A>T	ENST00000340096.6	+	16	2275	c.1948A>T	c.(1948-1950)Aga>Tga	p.R650*	OFD1_ENST00000380567.1_Nonsense_Mutation_p.R510*|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Nonsense_Mutation_p.R610*	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	650	Mediates homooligomerization.|Mediates the interaction with SDCCAG8.				axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AAAGGCTTTCAGAAGTTACCA	0.478																																						ENST00000380567.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(1528-1530)Aga>Tga		oral-facial-digital syndrome 1							74	71	72					X																	13778527		2203	4300	6503	SO:0001587	stop_gained	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13778527A>T	Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"retinitis pigmentosa 23 (X-linked recessive)"	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.1948A>T	X.37:g.13778527A>T	ENSP00000344314:p.Arg650*					OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Nonsense_Mutation_p.R610*|OFD1_ENST00000340096.6_Nonsense_Mutation_p.R650*	p.R510*			O75665	OFD1_HUMAN			17	2400	+			650					B9ZVU5|O75666|Q4VAK4	Nonsense_Mutation	SNP	ENST00000340096.6	37	c.1528A>T	CCDS14157.1	.	.	.	.	.	.	.	.	.	.	.	47	13.480964	0.99744	.	.	ENSG00000046651	ENST00000380550;ENST00000340096;ENST00000380567	.	.	.	5.67	2.2	0.27929	.	0.217516	0.45606	D	0.000357	.	.	.	.	.	.	0.54753	D	0.999987	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.9488	8.5217	0.33279	0.3763:0.5098:0.0:0.1139	.	.	.	.	X	610;650;510	.	ENSP00000344314:R650X	R	+	1	2	OFD1	13688448	0.994000	0.37717	0.002000	0.10522	0.906000	0.53458	2.282000	0.43461	0.053000	0.16036	0.430000	0.28490	AGA		0.478	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611		42	138	0	0	0	0.086207	0	42	138					T	13778527	A	T	13778527	4	4	72	1	0	0	0	0	0	1	0	0	10838	180	7	5	2010	5	OFD1	23	13778527	Nonsense_Mutation	SNP	A	TCGA-DJ-A13P-01A-11D-A10S-08		13778527	141492033	18	1662											
PHEX	5251	broad.mit.edu	37	chrX	22112115	22112115	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacagtatcgggatgccctTtacaagttcatggtggatac	10	8	1	0			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chrX:22112115T>G	ENST00000379374.4	+	7	1312	c.747T>G	c.(745-747)ctT>ctG	p.L249L	PHEX_ENST00000535894.1_Silent_p.L152L|PHEX_ENST00000475778.1_3'UTR|PHEX_ENST00000537599.1_Silent_p.L249L	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	249					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						GGGATGCCCTTTACAAGTTCA	0.413																																						ENST00000379374.4																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						c.(745-747)ctT>ctG		phosphate regulating endopeptidase homolog, X-linked							174	159	164					X																	22112115		2203	4300	6503	SO:0001819	synonymous_variant	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22112115T>G	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.747T>G	X.37:g.22112115T>G						PHEX_ENST00000475778.1_3'UTR|PHEX_ENST00000537599.1_Silent_p.L249L|PHEX_ENST00000535894.1_Silent_p.L152L	p.L249L	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN			7	1312	+			249					O00678|Q13646|Q2M325|Q93032|Q99827	Silent	SNP	ENST00000379374.4	37	c.747T>G	CCDS14204.1																																																																																				0.413	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444		23	233	0	0	0	0.0918	0	23	233					G	22112115	T	G	22112115	2	3	72	1	0	0	0	0	0	0	0	1	11819	1828	64	5		5	PHEX	23	22112115	Silent	SNP	T	TCGA-DJ-A13P-01A-11D-A10S-08	8333588	22112115	133158445	19	1663											
C1orf216	127703	broad.mit.edu	37	chr1	36181503	36181503	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgagggcagaaggggatcGggagggccagggcctcgcgg	21	9	0	2	rs377572339		TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr1:36181503G>A	ENST00000270815.4	-	2	1190	c.420C>T	c.(418-420)ccC>ccT	p.P140P	C1orf216_ENST00000503824.1_5'Flank	NM_152374.1	NP_689587.1	Q8TAB5	CA216_HUMAN	chromosome 1 open reading frame 216	140										kidney(2)|lung(3)|skin(2)|urinary_tract(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GAAGGGGATCGGGAGGGCCAG	0.617											OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000270815.4																			0				kidney(2)|lung(3)|skin(2)|urinary_tract(1)	8						c.(418-420)ccC>ccT		chromosome 1 open reading frame 216		G		0,4406		0,0,2203	103	104	104		420	-4.5	0.0	1		104	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C1orf216	NM_152374.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		140/230	36181503	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	127703							g.chr1:36181503G>A	AK096303	CCDS395.1	1p34.3	2007-08-10			ENSG00000142686	ENSG00000142686			26800	protein-coding gene	gene with protein product						12477932	Standard	NM_152374		Approved	FLJ38984	uc001bzh.1	Q8TAB5	OTTHUMG00000004167	ENST00000270815.4:c.420C>T	1.37:g.36181503G>A			OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	861		p.P140P	NM_152374.1	NP_689587.1	Q8TAB5	CA216_HUMAN			2	1190	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)	140					D3DPS1|Q8N8N6	Silent	SNP	ENST00000270815.4	37	c.420C>T	CCDS395.1																																																																																				0.617	C1orf216-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012013.3	NM_152374		7	198	0	0	0	0.02938	0	7	198					A	36181503	G	A	36181503	2	1	73	1	0	0	0	0	0	0	0	1	2031	1103	39	1		1	C1orf216	1	36181503	Silent	SNP	G	TCGA-DJ-A13R-01A-11D-A10S-08		36181503	213069118	1	1664											
SNX7	51375	broad.mit.edu	37	chr1	99161131	99161131	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taagcaggatggggcaaaccGtcagagctgttgcgtcctca	13	10	2	1	rs201834277		TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr1:99161131G>T	ENST00000306121.3	+	5	706	c.697G>T	c.(697-699)Gtc>Ttc	p.V233F	SNX7_ENST00000529992.1_Missense_Mutation_p.V178F|SNX7_ENST00000370189.5_Missense_Mutation_p.V169F	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	169					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		GGGGCAAACCGTCAGAGCTGT	0.403																																						ENST00000370189.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13						c.(505-507)Gtc>Ttc		sorting nexin 7							61	70	67					1																	99161131		2203	4300	6503	SO:0001583	missense	51375				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr1:99161131G>T	AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"Sorting nexins"	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.697G>T	1.37:g.99161131G>T	ENSP00000304429:p.Val233Phe					SNX7_ENST00000529992.1_Missense_Mutation_p.V178F|SNX7_ENST00000306121.3_Missense_Mutation_p.V233F	p.V169F			Q9UNH6	SNX7_HUMAN		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)	6	869	+		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)	169					A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Missense_Mutation	SNP	ENST00000306121.3	37	c.505G>T	CCDS755.2	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940974	0.52972	.	.	ENSG00000162627	ENST00000370189;ENST00000529992;ENST00000306121	T;T;T	0.35605	1.35;1.99;1.3	5.66	5.66	0.87406	.	0.304718	0.35525	N	0.003159	T	0.44498	0.1296	M	0.68593	2.085	0.52099	D	0.999947	D;P;D	0.89917	1.0;0.885;0.979	D;P;P	0.79784	0.993;0.56;0.892	T	0.22871	-1.0204	10	0.16420	T	0.52	-15.7585	13.3367	0.60522	0.0724:0.0:0.9276:0.0	.	178;233;169	E9PNL2;Q9UNH6-3;Q9UNH6-2	.;.;.	F	169;178;233	ENSP00000359208:V169F;ENSP00000434731:V178F;ENSP00000304429:V233F	ENSP00000304429:V233F	V	+	1	0	SNX7	98933719	1.000000	0.71417	0.954000	0.39281	0.136000	0.21042	5.411000	0.66386	2.826000	0.97356	0.655000	0.94253	GTC		0.403	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029609.2			33	75	1	0	4.3181e-19	0.054565	5.11354e-19	33	75					T	99161131	G	T	99161131	3	4	73	1	0	0	0	0	1	0	0	0	14907	1145	40	4	715	4	SNX7	1	99161131	Missense_Mutation	SNP	G	TCGA-DJ-A13R-01A-11D-A10S-08	62979628	99161131	150089490	2	1665											
NPAS2	4862	broad.mit.edu	37	chr2	101592002	101592002	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaagagttacctgtcccCgggctcagccaggcagccac	10	18	1	1	rs140730823		TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr2:101592002C>T	ENST00000335681.5	+	14	1650	c.1365C>T	c.(1363-1365)ccC>ccT	p.P455P	NPAS2_ENST00000542504.1_Silent_p.P520P|AC016738.3_ENST00000446644.1_RNA|AC016738.3_ENST00000433012.1_RNA|AC016738.3_ENST00000439150.1_RNA	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	455					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TACCTGTCCCCGGGCTCAGCC	0.612													C|||	1	0.000199681	0	0	5008	,	,		16170	0		0.001	False		,,,				2504	0					ENST00000335681.5																			0				cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1363-1365)ccC>ccT		neuronal PAS domain protein 2		C		0,4406		0,0,2203	81	81	81		1365	-11.4	0.0	2	dbSNP_134	81	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	NPAS2	NM_002518.3		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		455/825	101592002	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	4862				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:101592002C>T	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"Basic helix-loop-helix proteins"	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.1365C>T	2.37:g.101592002C>T						NPAS2_ENST00000542504.1_Silent_p.P520P|AC016738.3_ENST00000439150.1_RNA|AC016738.3_ENST00000446644.1_RNA	p.P455P	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN			14	1650	+			455					Q4ZFV9|Q53SQ3|Q86V96|Q99629	Silent	SNP	ENST00000335681.5	37	c.1365C>T	CCDS2048.1																																																																																				0.612	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3			6	256	0	0	0	0.021553	0	6	256					T	101592002	C	T	101592002	2	4	73	1	0	0	0	0	0	0	0	1	10563	639	23	1		1	NPAS2	2	101592002	Silent	SNP	C	TCGA-DJ-A13R-01A-11D-A10S-08		101592002	141607371	3	1666											
SI	6476	broad.mit.edu	37	chr3	164741469	164741469	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtatttagttggaggtcagcTgttatacccatggatgaata	11	5	1	1			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr3:164741469T>A	ENST00000264382.3	-	26	3050	c.2988A>T	c.(2986-2988)acA>acT	p.T996T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	996	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GGAGGTCAGCTGTTATACCCA	0.403										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(2986-2988)acA>acT		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						137	130	132					3																	164741469		2203	4300	6503	SO:0001819	synonymous_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164741469T>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2988A>T	3.37:g.164741469T>A		HNSCC(35;0.089)					p.T996T	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			26	3050	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	996			Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	c.2988A>T	CCDS3196.1																																																																																				0.403	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		29	75	0	0	0	0.037714	0	29	75					A	164741469	T	A	164741469	2	1	73	1	0	0	0	0	0	0	0	1	14297	1567	55	5		5	SI	3	164741469	Silent	SNP	T	TCGA-DJ-A13R-01A-11D-A10S-08		164741469	33280961	4	1667											
CPE	1363	broad.mit.edu	37	chr4	166405633	166405633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttccaaagcttggcccggGcatactcttctttcaacccg	7	14	3	0			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr4:166405633G>A	ENST00000402744.4	+	5	1130	c.850G>A	c.(850-852)Gca>Aca	p.A284T		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	284					cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)	carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270)	p.A284T(1)		endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	CTTGGCCCGGGCATACTCTTC	0.498																																						ENST00000402744.4																			1	Substitution - Missense(1)	p.A284T(1)	prostate(1)	endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(850-852)Gca>Aca		carboxypeptidase E	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						270	262	265					4																	166405633		2203	4300	6503	SO:0001583	missense	1363				cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding	g.chr4:166405633G>A	X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	3.4.17.10		2303	protein-coding gene	gene with protein product	"carboxypeptidase H", "enkephalin convertase", "insulin granule-associated carboxypeptidase", "cobalt-stimulated chromaffin granule carboxypeptidase"	114855				2334405	Standard	NM_001873		Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.850G>A	4.37:g.166405633G>A	ENSP00000386104:p.Ala284Thr						p.A284T	NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN		GBM - Glioblastoma multiforme(119;0.137)	5	1130	+	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)	284					A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Missense_Mutation	SNP	ENST00000402744.4	37	c.850G>A	CCDS3810.1	.	.	.	.	.	.	.	.	.	.	G	3.578	-0.086236	0.07097	.	.	ENSG00000109472	ENST00000402744;ENST00000261510	T	0.11385	2.78	5.67	4.82	0.62117	Peptidase M14, carboxypeptidase A (2);	0.397035	0.26963	N	0.021616	T	0.04137	0.0115	N	0.04387	-0.21	0.45962	D	0.998781	B	0.24092	0.097	B	0.20767	0.031	T	0.42632	-0.9440	10	0.16420	T	0.52	-6.9485	5.6935	0.17843	0.1036:0.0:0.557:0.3394	.	284	P16870	CBPE_HUMAN	T	284;248	ENSP00000386104:A284T	ENSP00000261510:A248T	A	+	1	0	CPE	166625083	0.998000	0.40836	0.783000	0.31826	0.257000	0.26127	1.637000	0.37155	1.487000	0.48415	0.650000	0.86243	GCA		0.498	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	NM_001873		7	527	0	0	0	0.047766	0	7	527					A	166405633	G	A	166405633	3	1	73	1	0	0	0	0	1	0	0	0	3799	1203	42	2	868	2	CPE	4	166405633	Missense_Mutation	SNP	G	TCGA-DJ-A13R-01A-11D-A10S-08		166405633	24748643	5	1668											
CLCN3	1182	broad.mit.edu	37	chr4	170628369	170628369	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcataatgtcaaaagaatctCagagattagtgggatttgcc	9	6	3	2			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr4:170628369C>T	ENST00000513761.1	+	11	2660	c.2101C>T	c.(2101-2103)Cag>Tag	p.Q701*	CLCN3_ENST00000347613.4_Nonsense_Mutation_p.Q701*|CLCN3_ENST00000504131.2_Nonsense_Mutation_p.Q684*|CLCN3_ENST00000360642.3_Nonsense_Mutation_p.Q674*	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	701	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		AAAAGAATCTCAGAGATTAGT	0.358																																						ENST00000513761.1																			0				breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29						c.(2101-2103)Cag>Tag		chloride channel, voltage-sensitive 3							109	118	115					4																	170628369		2203	4300	6503	SO:0001587	stop_gained	0				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity	g.chr4:170628369C>T	X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"Ion channels / Chloride channels : Voltage-sensitive"	2021	protein-coding gene	gene with protein product		600580	"chloride channel 3"				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.2101C>T	4.37:g.170628369C>T	ENSP00000424603:p.Gln701*					CLCN3_ENST00000347613.4_Nonsense_Mutation_p.Q701*|CLCN3_ENST00000504131.2_Nonsense_Mutation_p.Q684*|CLCN3_ENST00000360642.3_Nonsense_Mutation_p.Q674*	p.Q701*	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)	11	2660	+		Prostate(90;0.00601)|Renal(120;0.0183)	701			CBS 1.		B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Nonsense_Mutation	SNP	ENST00000513761.1	37	c.2101C>T	CCDS34101.1	.	.	.	.	.	.	.	.	.	.	C	42	9.329091	0.99138	.	.	ENSG00000109572	ENST00000513761;ENST00000347613;ENST00000360642;ENST00000504131;ENST00000507875	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-4.7654	19.817	0.96573	0.0:1.0:0.0:0.0	.	.	.	.	X	701;701;674;684;674	.	ENSP00000261514:Q701X	Q	+	1	0	CLCN3	170864944	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.671000	0.68095	2.678000	0.91216	0.655000	0.94253	CAG		0.358	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			47	154	0	0	0	0.048971	0	47	154					T	170628369	C	T	170628369	4	4	73	1	0	0	0	0	0	1	0	0	3464	827	29	2	2139	2	CLCN3	4	170628369	Nonsense_Mutation	SNP	C	TCGA-DJ-A13R-01A-11D-A10S-08	4222736	170628369	20525907	6	1669											
HCN1	348980	broad.mit.edu	37	chr5	45262699	45262699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctggtcgctgtgtacaccGgtggagattgtgtcctcatg	15	9	1	1			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr5:45262699G>A	ENST00000303230.4	-	8	2054	c.1997C>T	c.(1996-1998)cCg>cTg	p.P666L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	666					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGTGTACACCGGTGGAGATTG	0.577																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(1996-1998)cCg>cTg		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							153	149	150					5																	45262699		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262699G>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1997C>T	5.37:g.45262699G>A	ENSP00000307342:p.Pro666Leu						p.P666L	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			8	2054	-			666						Missense_Mutation	SNP	ENST00000303230.4	37	c.1997C>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906252	0.33628	.	.	ENSG00000164588	ENST00000303230	D	0.97404	-4.37	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000009	D	0.94928	0.8360	L	0.44542	1.39	0.58432	D	0.999998	B	0.20988	0.05	B	0.12837	0.008	D	0.92028	0.5631	10	0.28530	T	0.3	.	19.1659	0.93557	0.0:0.0:1.0:0.0	.	666	O60741	HCN1_HUMAN	L	666	ENSP00000307342:P666L	ENSP00000307342:P666L	P	-	2	0	HCN1	45298456	0.632000	0.27172	0.938000	0.37757	0.722000	0.41435	2.974000	0.49272	2.528000	0.85240	0.563000	0.77884	CCG		0.577	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		4	103	0	0	0	0.021553	0	4	103					A	45262699	G	A	45262699	3	1	73	1	0	0	0	0	1	0	0	0	6996	1116	39	1	679	1	HCN1	5	45262699	Missense_Mutation	SNP	G	TCGA-DJ-A13R-01A-11D-A10S-08		45262699	135652561	7	1670											
ARHGAP26	23092	broad.mit.edu	37	chr5	142500590	142500590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagaatttgatgacggtgGcaaaccttggtgtggtgttt	14	5	0	3			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr5:142500590G>A	ENST00000274498.4	+	18	1954	c.1576G>A	c.(1576-1578)Gca>Aca	p.A526T	ARHGAP26_ENST00000378004.3_Missense_Mutation_p.A526T	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	526	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATGACGGTGGCAAACCTTGG	0.453																																						ENST00000378004.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25						c.(1576-1578)Gca>Aca		Rho GTPase activating protein 26							167	161	163					5																	142500590		2203	4300	6503	SO:0001583	missense	23092				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chr5:142500590G>A	AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"Rho GTPase activating proteins"	17073	protein-coding gene	gene with protein product	"GTPase regulator associated with the focal adhesion kinase pp125"	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.1576G>A	5.37:g.142500590G>A	ENSP00000274498:p.Ala526Thr					ARHGAP26_ENST00000274498.4_Missense_Mutation_p.A526T	p.A526T	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		18	1931	+		all_hematologic(541;0.0416)	526			Rho-GAP.		O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Missense_Mutation	SNP	ENST00000274498.4	37	c.1576G>A	CCDS4277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.9|26.9	4.778636|4.778636	0.90195|0.90195	.|.	.|.	ENSG00000145819|ENSG00000145819	ENST00000274498;ENST00000378004;ENST00000418668|ENST00000443674;ENST00000418236	T;T|.	0.18502|.	2.21;2.21|.	5.38|5.38	5.38|5.38	0.77491|0.77491	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.60170|.	0.2248|.	L|L	0.33668|0.33668	1.02|1.02	0.80722|0.80722	D|D	1|1	D;D;P|.	0.89917|.	1.0;0.988;0.748|.	D;P;B|.	0.91635|.	0.999;0.791;0.319|.	T|.	0.54549|.	-0.8277|.	10|.	0.56958|.	D|.	0.05|.	.|.	19.1627|19.1627	0.93541|0.93541	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	526;99;526|.	Q9UNA1;B3KT96;Q9UNA1-2|.	RHG26_HUMAN;.;.|.	T|X	526;526;99|144;97	ENSP00000274498:A526T;ENSP00000367243:A526T|.	ENSP00000274498:A526T|.	A|W	+|+	1|3	0|0	ARHGAP26|ARHGAP26	142480783|142480783	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.938000|0.938000	0.57974|0.57974	7.502000|7.502000	0.81614|0.81614	2.515000|2.515000	0.84797|0.84797	0.655000|0.655000	0.94253|0.94253	GCA|TGG		0.453	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071		4	206	0	0	0	0.014758	0	4	206					A	142500590	G	A	142500590	3	1	73	1	0	0	0	0	1	0	0	0	875	1203	42	2	1646	2	ARHGAP26	5	142500590	Missense_Mutation	SNP	G	TCGA-DJ-A13R-01A-11D-A10S-08	97237891	142500590	38414670	8	1671											
KIF4B	285643	broad.mit.edu	37	chr5	154395057	154395057	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttaggaagatgactcagaaCgacaaccaactacagcccat	8	11	1	3	rs191490719	byFrequency	TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr5:154395057C>T	ENST00000435029.4	+	1	1798	c.1638C>T	c.(1636-1638)aaC>aaT	p.N546N		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	546					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGACTCAGAACGACAACCAAC	0.418													C|||	5	0.000998403	0	0.0043	5008	,	,		22175	0		0.002	False		,,,				2504	0					ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(1636-1638)aaC>aaT		kinesin family member 4B		C		0,4406		0,0,2203	72	72	72		1638	-3.0	0.0	5		72	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	KIF4B	NM_001099293.1		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		546/1235	154395057	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154395057C>T	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.1638C>T	5.37:g.154395057C>T							p.N546N	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	1798	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	546						Silent	SNP	ENST00000435029.4	37	c.1638C>T	CCDS47324.1																																																																																				0.418	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			22	50	0	0	0	0.055883	0	22	50					T	154395057	C	T	154395057	2	4	73	1	0	0	0	0	0	0	0	1	8304	535	19	1		1	KIF4B	5	154395057	Silent	SNP	C	TCGA-DJ-A13R-01A-11D-A10S-08	11894467	154395057	26520203	9	1672											
FAM50B	26240	broad.mit.edu	37	chr6	3850220	3850220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attacgacgccgtggaggccGagctgaagtccagcacggtg	15	11	0	1			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr6:3850220G>A	ENST00000380274.1	+	1	601	c.175G>A	c.(175-177)Gag>Aag	p.E59K	FAM50B_ENST00000380272.3_Missense_Mutation_p.E59K			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	59						nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				CGTGGAGGCCGAGCTGAAGTC	0.662																																						ENST00000380274.1																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17						c.(175-177)Gag>Aag		family with sequence similarity 50, member B							49	48	49					6																	3850220		2203	4300	6503	SO:0001583	missense	26240					nucleus		g.chr6:3850220G>A	Y18504	CCDS4487.1	6p25.2	2008-05-15			ENSG00000145945	ENSG00000145945			18789	protein-coding gene	gene with protein product		614686				10534398	Standard	NM_012135		Approved	D6S2654E, X5L	uc003mvu.3	Q9Y247	OTTHUMG00000014147	ENST00000380274.1:c.175G>A	6.37:g.3850220G>A	ENSP00000369627:p.Glu59Lys					FAM50B_ENST00000380272.3_Missense_Mutation_p.E59K	p.E59K			Q9Y247	FA50B_HUMAN			1	601	+	Ovarian(93;0.0925)	all_hematologic(90;0.108)	59					Q5T2L6	Missense_Mutation	SNP	ENST00000380274.1	37	c.175G>A	CCDS4487.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228103	0.58777	.	.	ENSG00000145945	ENST00000380274;ENST00000380272	.	.	.	4.43	4.43	0.53597	.	0.057577	0.64402	U	0.000002	T	0.30135	0.0755	L	0.55834	1.745	0.44619	D	0.997592	P	0.37525	0.598	B	0.29524	0.103	T	0.26258	-1.0108	9	0.08837	T	0.75	-32.7226	14.9294	0.70903	0.0:0.0:1.0:0.0	.	59	Q9Y247	FA50B_HUMAN	K	59	.	ENSP00000369625:E59K	E	+	1	0	FAM50B	3795219	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	4.098000	0.57748	2.462000	0.83206	0.561000	0.74099	GAG		0.662	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039693.1	NM_012135		15	30	0	0	0	0.024245	0	15	30					A	3850220	G	A	3850220	3	1	73	1	0	0	0	0	1	0	0	0	5578	1059	37	1	177	1	FAM50B	6	3850220	Missense_Mutation	SNP	G	TCGA-DJ-A13R-01A-11D-A10S-08		3850220	167264847	10	1673											
PIWIL2	55124	broad.mit.edu	37	chr8	22211863	22211863	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtctgtgttctcaacaccGcaaacctgagccctgatcat	7	13	3	2	rs150723884	byFrequency	TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr8:22211863G>A	ENST00000454009.2	+	22	3246	c.2737G>A	c.(2737-2739)Gca>Aca	p.A913T	PIWIL2_ENST00000521356.1_Intron|PIWIL2_ENST00000356766.6_Missense_Mutation_p.A913T	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	913	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		TCTCAACACCGCAAACCTGAG	0.463													G|||	4	0.000798722	8e-04	0	5008	,	,		18148	0		0.003	False		,,,				2504	0					ENST00000356766.6																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(2737-2739)Gca>Aca		piwi-like RNA-mediated gene silencing 2		G	THR/ALA,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	177	146	156		2737,2737	4.5	1.0	8	dbSNP_134	156	20,8580	15.3+/-51.7	0,20,4280	yes	missense,missense	PIWIL2	NM_001135721.1,NM_018068.3	58,58	0,22,6481	AA,AG,GG		0.2326,0.0454,0.1692	benign,benign	913/974,913/974	22211863	22,12984	2203	4300	6503	SO:0001583	missense	55124				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22211863G>A	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"Argonaute/PIWI family"	17644	protein-coding gene	gene with protein product	"Hiwi-like", "cancer/testis antigen 80"	610312	"piwi-like 2 (Drosophila)"			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.2737G>A	8.37:g.22211863G>A	ENSP00000406956:p.Ala913Thr					PIWIL2_ENST00000454009.2_Missense_Mutation_p.A913T|PIWIL2_ENST00000521356.1_Intron	p.A913T	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	22	2885	+			913			Piwi.		A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	c.2737G>A	CCDS6029.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	G	14.55	2.570065	0.45798	4.54E-4	0.002326	ENSG00000197181	ENST00000356766;ENST00000454009	T;T	0.12465	2.68;2.68	4.53	4.53	0.55603	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.052406	0.85682	D	0.000000	T	0.06371	0.0164	N	0.03238	-0.38	0.52501	D	0.99995	B	0.06786	0.001	B	0.06405	0.002	T	0.26326	-1.0106	10	0.09084	T	0.74	-24.0969	16.3998	0.83635	0.0:0.0:1.0:0.0	.	913	Q8TC59	PIWL2_HUMAN	T	913	ENSP00000349208:A913T;ENSP00000406956:A913T	ENSP00000349208:A913T	A	+	1	0	PIWIL2	22267808	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.352000	0.66028	2.242000	0.73789	0.561000	0.74099	GCA		0.463	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			4	163	0	0	0	0.009096	0	4	163					A	22211863	G	A	22211863	3	1	73	1	0	0	0	0	1	0	0	0	11958	1087	38	1	2819	1	PIWIL2	8	22211863	Missense_Mutation	SNP	G	TCGA-DJ-A13R-01A-11D-A10S-08		22211863	124152159	11	1674											
AGPAT6	137964	broad.mit.edu	37	chr8	41456786	41456786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagtctcctttggtatccGcaaactctacatgaaaagtc	8	10	2	1			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr8:41456786G>A	ENST00000396987.3	+	2	1055	c.128G>A	c.(127-129)cGc>cAc	p.R43H		NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	43					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|fatty acid metabolic process (GO:0006631)|glandular epithelial cell maturation (GO:0002071)|glycerophospholipid biosynthetic process (GO:0046474)|lactation (GO:0007595)|lipid biosynthetic process (GO:0008610)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of multicellular organism growth (GO:0040014)|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)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)	p.R43H(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			TTTGGTATCCGCAAACTCTAC	0.433																																						ENST00000396987.3																			2	Substitution - Missense(2)	p.R43H(2)	kidney(1)|endometrium(1)	endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14						c.(127-129)cGc>cAc		1-acylglycerol-3-phosphate O-acyltransferase 6							143	134	137					8																	41456786		2203	4300	6503	SO:0001583	missense	137964				acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity	g.chr8:41456786G>A	AF406612	CCDS6117.1	8p11.21	2013-02-05	2013-02-05			ENSG00000158669	2.3.1.15	"1-acylglycerol-3-phosphate O-acyltransferases"	20880	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, zeta"	608143	"1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta)"			12938015	Standard	NM_178819		Approved	DKFZp586M1819, LPAAT-zeta	uc003xnz.2	Q86UL3		ENST00000396987.3:c.128G>A	8.37:g.41456786G>A	ENSP00000380184:p.Arg43His						p.R43H	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)		2	1055	+	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	43					Q86V89	Missense_Mutation	SNP	ENST00000396987.3	37	c.128G>A	CCDS6117.1	.	.	.	.	.	.	.	.	.	.	G	35	5.581895	0.96578	.	.	ENSG00000158669	ENST00000396987	T	0.58797	0.31	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.77658	0.4163	M	0.80183	2.485	0.80722	D	1	D	0.76494	0.999	D	0.65140	0.932	T	0.78979	-0.1990	10	0.72032	D	0.01	.	19.5092	0.95133	0.0:0.0:1.0:0.0	.	43	Q86UL3	GPAT4_HUMAN	H	43	ENSP00000380184:R43H	ENSP00000380184:R43H	R	+	2	0	AGPAT6	41575943	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.869000	0.99810	2.861000	0.98227	0.650000	0.86243	CGC		0.433	AGPAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377158.1	NM_178819		4	183	0	0	0	0.009096	0	4	183					A	41456786	G	A	41456786	3	1	73	1	0	0	0	0	1	0	0	0	391	1087	38	1	130	1	AGPAT6	8	41456786	Missense_Mutation	SNP	G	TCGA-DJ-A13R-01A-11D-A10S-08	19244923	41456786	104907236	12	1675											
OPLAH	26873	broad.mit.edu	37	chr8	145113008	145113008	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgctggcctcgaagacGtgctcgaattccccagcata	11	13	0	1	rs555485437		TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr8:145113008G>A	ENST00000426825.1	-	8	1074	c.993C>T	c.(991-993)caC>caT	p.H331H	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	331					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-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;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTCGAAGACGTGCTCGAATT	0.662													G|||	1	0.000199681	0	0	5008	,	,		16766	0		0	False		,,,				2504	0.001					ENST00000426825.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(991-993)caC>caT		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)						44	52	50					8																	145113008		2059	4177	6236	SO:0001819	synonymous_variant	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145113008G>A	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.993C>T	8.37:g.145113008G>A						OPLAH_ENST00000534424.1_5'UTR	p.H331H	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		8	1074	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		331					A5PKY8|Q75W65|Q9Y4Q0	Silent	SNP	ENST00000426825.1	37	c.993C>T																																																																																					0.662	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		4	131	0	0	0	0.009096	0	4	131					A	145113008	G	A	145113008	2	1	73	1	0	0	0	0	0	0	0	1	10876	1136	40	1		1	OPLAH	8	145113008	Silent	SNP	G	TCGA-DJ-A13R-01A-11D-A10S-08	103656222	145113008	1251014	13	1676											
C9orf86	55684	broad.mit.edu	37	chr9	139733836	139733836	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggtgagcaggcctcctcGtcggagagtgaccccgaggg	17	11	0	3			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr9:139733836G>A	ENST00000311502.7	+	12	1892	c.1656G>A	c.(1654-1656)tcG>tcA	p.S552S	RABL6_ENST00000357466.2_Intron|RABL6_ENST00000371675.3_Silent_p.S437S|RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371663.4_Silent_p.S553S			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	552					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										AGGCCTCCTCGTCGGAGAGTG	0.642																																						ENST00000371675.3																			0											c.(1309-1311)tcG>tcA		RAB, member RAS oncogene family-like 6							33	42	39					9																	139733836		2129	4251	6380	SO:0001819	synonymous_variant	55684							g.chr9:139733836G>A	AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"Rab-like protein 1", "partner of ARF"	610615	"chromosome 9 open reading frame 86"	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.1656G>A	9.37:g.139733836G>A						RABL6_ENST00000357466.2_Intron|RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371663.4_Silent_p.S553S|RABL6_ENST00000311502.7_Silent_p.S552S	p.S437S							12	2196	+								A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Silent	SNP	ENST00000311502.7	37	c.1311G>A	CCDS48058.1																																																																																				0.642	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4	NM_024718		6	32	0	0	0	0.021553	0	6	32					A	139733836	G	A	139733836	2	1	73	1	0	0	0	0	0	0	0	1	2502	1132	40	1		1	C9orf86	9	139733836	Silent	SNP	G	TCGA-DJ-A13R-01A-11D-A10S-08		139733836	1479595	14	1677											
ARRB1	408	broad.mit.edu	37	chr11	74979939	74979939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagattctgctcaccttcccGatgcgggggttcctctttgg	11	13	3	1			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr11:74979939G>A	ENST00000420843.2	-	14	1184	c.1087C>T	c.(1087-1089)Cgg>Tgg	p.R363W	ARRB1_ENST00000360025.3_Missense_Mutation_p.R355W|ARRB1_ENST00000393505.4_Missense_Mutation_p.R363W	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	363	Interaction with TRAF6.				activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						TCACCTTCCCGATGCGGGGGT	0.627																																						ENST00000420843.2																			0				breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						c.(1087-1089)Cgg>Tgg		arrestin, beta 1							113	103	106					11																	74979939		2200	4293	6493	SO:0001583	missense	408				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:74979939G>A	BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"arrestin 2"	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.1087C>T	11.37:g.74979939G>A	ENSP00000409581:p.Arg363Trp					ARRB1_ENST00000393505.4_Missense_Mutation_p.R363W|ARRB1_ENST00000360025.3_Missense_Mutation_p.R355W	p.R363W	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN			14	1184	-			363			Interaction with TRAF6.		B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Missense_Mutation	SNP	ENST00000420843.2	37	c.1087C>T	CCDS44684.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	17.39|17.39	3.377075|3.377075	0.61735|0.61735	.|.	.|.	ENSG00000137486|ENSG00000137486	ENST00000420843;ENST00000393505;ENST00000360025|ENST00000532447	T;T;T|.	0.10763|.	2.84;2.84;2.84|.	4.58|4.58	3.64|3.64	0.41730|0.41730	Immunoglobulin E-set (1);Arrestin, C-terminal (1);|.	0.472640|.	0.17750|.	U|.	0.163262|.	T|T	0.33818|0.33818	0.0876|0.0876	N|N	0.08118|0.08118	0|0	0.37812|0.37812	D|D	0.928082|0.928082	D;P|.	0.63046|.	0.992;0.897|.	P;B|.	0.50970|.	0.655;0.17|.	T|T	0.22871|0.22871	-1.0204|-1.0204	10|5	0.87932|.	D|.	0|.	-2.2881|-2.2881	10.0213|10.0213	0.42044|0.42044	0.1003:0.0:0.8997:0.0|0.1003:0.0:0.8997:0.0	.|.	355;363|.	P49407-2;P49407|.	.;ARRB1_HUMAN|.	W|L	363;363;355|179	ENSP00000409581:R363W;ENSP00000377141:R363W;ENSP00000353124:R355W|.	ENSP00000353124:R355W|.	R|S	-|-	1|2	2|0	ARRB1|ARRB1	74657587|74657587	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.792000|0.792000	0.44763|0.44763	2.389000|2.389000	0.44407|0.44407	2.277000|2.277000	0.76020|0.76020	0.550000|0.550000	0.68814|0.68814	CGG|TCG		0.627	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384092.3	NM_004041		49	108	0	0	0	0.048971	0	49	108					A	74979939	G	A	74979939	3	1	73	1	0	0	0	0	1	0	0	0	980	1057	37	1	181	1	ARRB1	11	74979939	Missense_Mutation	SNP	G	TCGA-DJ-A13R-01A-11D-A10S-08		74979939	60026577	15	1678											
IRAK4	51135	broad.mit.edu	37	chr12	44172022	44172022	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actccaccactttcttggcaCatgagatgcaagattgctca	7	12	2	2			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr12:44172022C>T	ENST00000448290.2	+	8	929	c.858C>T	c.(856-858)caC>caT	p.H286H	IRAK4_ENST00000440781.2_Silent_p.H162H|IRAK4_ENST00000551736.1_Silent_p.H286H|IRAK4_ENST00000431837.1_Silent_p.H162H	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	286	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TTTCTTGGCACATGAGATGCA	0.303																																						ENST00000431837.1																			0											c.(484-486)caC>caT		interleukin-1 receptor-associated kinase 4							70	69	70					12																	44172022		2203	4300	6503	SO:0001819	synonymous_variant	51135				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr12:44172022C>T	AF155118	CCDS8744.1, CCDS44862.1	12q12	2014-09-17				ENSG00000198001			17967	protein-coding gene	gene with protein product		606883				3772297, 10508479	Standard	NM_001114182		Approved	NY-REN-64	uc001rnt.3	Q9NWZ3		ENST00000448290.2:c.858C>T	12.37:g.44172022C>T						IRAK4_ENST00000551736.1_Silent_p.H286H|IRAK4_ENST00000440781.2_Silent_p.H162H|IRAK4_ENST00000448290.2_Silent_p.H286H	p.H162H	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN		GBM - Glioblastoma multiforme(48;0.04)	7	794	+	all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)	286					Q69FE1|Q8TDF7|Q9Y589	Silent	SNP	ENST00000448290.2	37	c.486C>T	CCDS8744.1																																																																																				0.303	IRAK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403947.1			25	73	0	0	0	0.037714	0	25	73					T	44172022	C	T	44172022	2	4	73	1	0	0	0	0	0	0	0	1	7825	477	17	2		2	IRAK4	12	44172022	Silent	SNP	C	TCGA-DJ-A13R-01A-11D-A10S-08		44172022	89679873	16	1679											
GCN1L1	10985	broad.mit.edu	37	chr12	120589045	120589045	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaggatgcccaggcccttcaCcaggcccgccaggccatagg	13	16	1	0			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr12:120589045C>G	ENST00000300648.6	-	34	4225	c.4213G>C	c.(4213-4215)Gtg>Ctg	p.V1405L		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1405					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGCCCTTCACCAGGCCCGCC	0.602																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(4213-4215)Gtg>Ctg		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							50	56	54					12																	120589045		2146	4249	6395	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120589045C>G	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.4213G>C	12.37:g.120589045C>G	ENSP00000300648:p.Val1405Leu						p.V1405L	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			34	4225	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1405					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.4213G>C	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383151	0.82792	.	.	ENSG00000089154	ENST00000300648	T	0.63744	-0.06	5.28	5.28	0.74379	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79828	0.4513	M	0.84683	2.71	0.80722	D	1	D	0.61080	0.989	P	0.58970	0.849	D	0.83425	0.0035	10	0.72032	D	0.01	-21.2775	18.9124	0.92491	0.0:1.0:0.0:0.0	.	1405	Q92616	GCN1L_HUMAN	L	1405	ENSP00000300648:V1405L	ENSP00000300648:V1405L	V	-	1	0	GCN1L1	119073428	1.000000	0.71417	1.000000	0.80357	0.488000	0.33401	7.583000	0.82559	2.490000	0.84030	0.561000	0.74099	GTG		0.602	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			5	98	0	0	0	0.014758	0	5	98					G	120589045	C	G	120589045	3	3	73	1	0	0	0	0	1	0	0	0	6299	507	18	4	3902	4	GCN1L1	12	120589045	Missense_Mutation	SNP	C	TCGA-DJ-A13R-01A-11D-A10S-08	76417023	120589045	13262850	17	1680											
ZC3H13	23091	broad.mit.edu	37	chr13	46563027	46563027	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttggaggactctgctttcTctggggagacgacaaagaat	12	8	3	2			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr13:46563027T>C	ENST00000242848.4	-	9	1498	c.1150A>G	c.(1150-1152)Aga>Gga	p.R384G	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R384G			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	384	Arg/Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CTCTGCTTTCTCTGGGGAGAC	0.483																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(1150-1152)Aga>Gga		zinc finger CCCH-type containing 13							139	122	128					13																	46563027		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46563027T>C	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.1150A>G	13.37:g.46563027T>C	ENSP00000242848:p.Arg384Gly					ZC3H13_ENST00000282007.3_Missense_Mutation_p.R384G	p.R384G			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	9	1498	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	384			Arg/Ser-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.1150A>G		.	.	.	.	.	.	.	.	.	.	T	12.73	2.025111	0.35701	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	T;T	0.45276	2.06;0.9	6.03	4.84	0.62591	.	0.000000	0.64402	D	0.000002	T	0.37598	0.1009	L	0.36672	1.1	0.80722	D	1	P;P	0.41848	0.651;0.763	B;B	0.42282	0.212;0.382	T	0.20571	-1.0271	10	0.62326	D	0.03	.	12.682	0.56926	0.0:0.0:0.2599:0.7401	.	384;384	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	G	384;384;200	ENSP00000242848:R384G;ENSP00000282007:R384G	ENSP00000242848:R384G	R	-	1	2	ZC3H13	45461028	0.996000	0.38824	1.000000	0.80357	0.991000	0.79684	1.659000	0.37387	1.073000	0.40885	0.533000	0.62120	AGA		0.483	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		5	56	0	0	0	0.014758	0	5	56					C	46563027	T	C	46563027	3	2	73	1	0	0	0	0	1	0	0	0	17562	1559	54	3	3580	3	ZC3H13	13	46563027	Missense_Mutation	SNP	T	TCGA-DJ-A13R-01A-11D-A10S-08		46563027	68606851	18	1681											
ATL1	51062	broad.mit.edu	37	chr14	51054695	51054695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcggatccttctctcggagGctgtcagagacaaggaggtt	13	9	2	1			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr14:51054695G>A	ENST00000358385.6	+	2	422	c.181G>A	c.(181-183)Gct>Act	p.A61T	ATL1_ENST00000441560.2_Missense_Mutation_p.A61T|ATL1_ENST00000357032.3_Missense_Mutation_p.A61T|ATL1_ENST00000354525.4_Missense_Mutation_p.A61T	NM_015915.4	NP_056999.2	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	61					axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						TCTCTCGGAGGCTGTCAGAGA	0.433																																						ENST00000441560.2																			0				central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						c.(181-183)Gct>Act		atlastin GTPase 1							192	174	180					14																	51054695		2203	4300	6503	SO:0001583	missense	51062				axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding	g.chr14:51054695G>A	AF131801	CCDS9700.1, CCDS32077.1	14q21.3	2014-09-17	2008-09-17	2008-09-17	ENSG00000198513	ENSG00000198513			11231	protein-coding gene	gene with protein product	"atlastin"	606439	"spastic paraplegia 3A (autosomal dominant)"	SPG3, SPG3A		8252041, 7825576	Standard	NM_015915		Approved	FSP1, AD-FSP	uc001wyd.4	Q8WXF7	OTTHUMG00000140297	ENST00000358385.6:c.181G>A	14.37:g.51054695G>A	ENSP00000351155:p.Ala61Thr					ATL1_ENST00000354525.4_Missense_Mutation_p.A61T|ATL1_ENST00000358385.6_Missense_Mutation_p.A61T|ATL1_ENST00000357032.3_Missense_Mutation_p.A61T	p.A61T	NM_001127713.1	NP_001121185.1	Q8WXF7	ATLA1_HUMAN			3	662	+			61					A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Missense_Mutation	SNP	ENST00000358385.6	37	c.181G>A	CCDS9700.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.748770	0.49257	.	.	ENSG00000198513	ENST00000441560;ENST00000555960;ENST00000358385;ENST00000357032;ENST00000354525	T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83	6.02	5.12	0.69794	Guanylate-binding protein, N-terminal (1);	0.051252	0.85682	D	0.000000	T	0.63498	0.2516	L	0.27053	0.805	0.48185	D	0.999606	B;B	0.19706	0.038;0.015	B;B	0.21546	0.035;0.02	T	0.57670	-0.7771	10	0.19147	T	0.46	-10.6193	16.438	0.83884	0.0:0.1313:0.8687:0.0	.	61;61	Q8WXF7;G5E9T1	ATLA1_HUMAN;.	T	61	ENSP00000413675:A61T;ENSP00000452506:A61T;ENSP00000351155:A61T;ENSP00000349534:A61T;ENSP00000346522:A61T	ENSP00000346522:A61T	A	+	1	0	ATL1	50124445	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.980000	0.56895	1.550000	0.49438	0.650000	0.86243	GCT		0.433	ATL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276884.2			6	278	0	0	0	0.038147	0	6	278					A	51054695	G	A	51054695	3	1	73	1	0	0	0	0	1	0	0	0	1106	1203	42	2	187	2	ATL1	14	51054695	Missense_Mutation	SNP	G	TCGA-DJ-A13R-01A-11D-A10S-08		51054695	56294845	19	1682											
SYNE2	23224	broad.mit.edu	37	chr14	64678781	64678781	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccaacgtggagcacttctcaGagagtgacgccgatgacaag	12	11	1	3			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr14:64678781G>C	ENST00000344113.4	+	104	19038	c.18826G>C	c.(18826-18828)Gag>Cag	p.E6276Q	SYNE2_ENST00000554584.1_Missense_Mutation_p.E6235Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.E2910Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6276Q|SYNE2_ENST00000357395.3_Missense_Mutation_p.E2661Q|SYNE2_ENST00000394768.2_Missense_Mutation_p.E2661Q|SYNE2_ENST00000554805.1_Missense_Mutation_p.E59Q|SYNE2_ENST00000555022.1_Missense_Mutation_p.E154Q|SYNE2_ENST00000458046.2_5'Flank	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6276					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GCACTTCTCAGAGAGTGACGC	0.542																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(7981-7983)Gag>Cag		spectrin repeat containing, nuclear envelope 2							140	131	134					14																	64678781		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64678781G>C	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.18826G>C	14.37:g.64678781G>C	ENSP00000341781:p.Glu6276Gln					SYNE2_ENST00000554805.1_Missense_Mutation_p.E59Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.E2910Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.E6235Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.E2661Q|SYNE2_ENST00000344113.4_Missense_Mutation_p.E6276Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6276Q|SYNE2_ENST00000555022.1_Missense_Mutation_p.E154Q	p.E2661Q			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	105	19125	+			6276					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.7981G>C	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.640026	0.47153	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805	T;T;T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35	5.33	5.33	0.75918	.	0.127117	0.34802	N	0.003674	T	0.50292	0.1607	L	0.60455	1.87	0.80722	D	1	P;P;D;P;D	0.63046	0.883;0.756;0.992;0.879;0.979	P;B;P;P;P	0.57720	0.644;0.285;0.826;0.676;0.784	T	0.50363	-0.8837	10	0.66056	D	0.02	.	13.1763	0.59629	0.0835:0.0:0.9165:0.0	.	2661;664;6235;6276;6276	Q8WXH0-7;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	Q	6276;2661;6276;6235;6241;2910;2661;154;59	ENSP00000350719:E6276Q;ENSP00000349969:E2661Q;ENSP00000341781:E6276Q;ENSP00000452570:E6235Q;ENSP00000450831:E2910Q;ENSP00000378249:E2661Q;ENSP00000451009:E154Q;ENSP00000450605:E59Q	ENSP00000261678:E6241Q	E	+	1	0	SYNE2	63748534	1.000000	0.71417	0.964000	0.40570	0.807000	0.45602	6.476000	0.73587	2.654000	0.90174	0.561000	0.74099	GAG		0.542	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		4	197	0	0	0	0.009096	0	4	197					C	64678781	G	C	64678781	3	2	73	1	0	0	0	0	1	0	0	0	15443	943	33	4	19236	4	SYNE2	14	64678781	Missense_Mutation	SNP	G	TCGA-DJ-A13R-01A-11D-A10S-08	13624086	64678781	42670759	20	1683											
GALNTL1	57452	broad.mit.edu	37	chr14	69795278	69795278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgccgcccatgctgcagcGggtgaaggaggtgagccact	16	12	0	2			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr14:69795278G>A	ENST00000337827.4	+	6	1007	c.680G>A	c.(679-681)cGg>cAg	p.R227Q	GALNT16_ENST00000553669.1_Missense_Mutation_p.R227Q|GALNT16_ENST00000448469.3_Missense_Mutation_p.R227Q	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	227	Catalytic subdomain A.				protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										ATGCTGCAGCGGGTGAAGGAG	0.622																																						ENST00000337827.4																			0											c.(679-681)cGg>cAg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16							62	61	61					14																	69795278		2202	4300	6502	SO:0001583	missense	57452							g.chr14:69795278G>A	AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"Glycosyltransferase family 2 domain containing"	23233	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 16"	615132	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.680G>A	14.37:g.69795278G>A	ENSP00000336729:p.Arg227Gln					GALNT16_ENST00000553669.1_Missense_Mutation_p.R227Q|GALNT16_ENST00000448469.3_Missense_Mutation_p.R227Q	p.R227Q	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2					6	1007	+								Q4KMG3|Q58A55|Q9ULT9	Missense_Mutation	SNP	ENST00000337827.4	37	c.680G>A	CCDS32107.1	.	.	.	.	.	.	.	.	.	.	G	33	5.283848	0.95489	.	.	ENSG00000100626	ENST00000337827;ENST00000448469;ENST00000553669	T;T;T	0.61627	0.09;0.09;0.09	5.59	4.7	0.59300	Glycosyl transferase, family 2 (1);	0.050258	0.85682	D	0.000000	T	0.63177	0.2489	M	0.79123	2.44	0.80722	D	1	D;D	0.71674	0.991;0.998	B;P	0.45753	0.235;0.492	T	0.70872	-0.4754	10	0.87932	D	0	.	13.8954	0.63768	0.0739:0.0:0.9261:0.0	.	227;227	Q8N428;Q58A55	GLTL1_HUMAN;.	Q	227	ENSP00000336729:R227Q;ENSP00000402970:R227Q;ENSP00000451200:R227Q	ENSP00000336729:R227Q	R	+	2	0	GALNTL1	68865031	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.095000	0.94175	1.366000	0.46076	0.563000	0.77884	CGG		0.622	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	NM_001168368		24	62	0	0	0	0.041601	0	24	62					A	69795278	G	A	69795278	3	1	73	1	0	0	0	0	1	0	0	0	6221	1116	39	1	702	1	GALNTL1	14	69795278	Missense_Mutation	SNP	G	TCGA-DJ-A13R-01A-11D-A10S-08	5116497	69795278	37554262	21	1684											
MYH13	8735	broad.mit.edu	37	chr17	10209906	10209906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgctccaggtgggcgctgGtgtcctgttccttctttagc	12	13	1	0			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr17:10209906G>A	ENST00000418404.3	-	36	5499	c.5336C>T	c.(5335-5337)aCc>aTc	p.T1779I	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.T1779I			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1779					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GTGGGCGCTGGTGTCCTGTTC	0.592																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(5335-5337)aCc>aTc		myosin, heavy chain 13, skeletal muscle							101	100	100					17																	10209906		2203	4300	6503	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10209906G>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5336C>T	17.37:g.10209906G>A	ENSP00000404570:p.Thr1779Ile					MYH13_ENST00000570743.1_Missense_Mutation_p.T1779I|MYH13_ENST00000252172.4_Missense_Mutation_p.T1779I	p.T1779I			Q9UKX3	MYH13_HUMAN			36	5499	-			1779					O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.5336C>T	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.598954	0.87055	.	.	ENSG00000006788	ENST00000252172	T	0.78003	-1.14	4.35	4.35	0.52113	Myosin tail (1);	.	.	.	.	D	0.90075	0.6900	H	0.95574	3.69	0.49213	D	0.999769	P	0.44816	0.844	P	0.55749	0.783	D	0.92652	0.6134	9	0.56958	D	0.05	.	17.4414	0.87566	0.0:0.0:1.0:0.0	.	1779	Q9UKX3	MYH13_HUMAN	I	1779	ENSP00000252172:T1779I	ENSP00000252172:T1779I	T	-	2	0	MYH13	10150631	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.610000	0.98337	2.417000	0.82017	0.591000	0.81541	ACC		0.592	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		26	129	0	0	0	0.108266	0	26	129					A	10209906	G	A	10209906	3	1	73	1	0	0	0	0	1	0	0	0	10032	1261	44	2	500	2	MYH13	17	10209906	Missense_Mutation	SNP	G	TCGA-DJ-A13R-01A-11D-A10S-08		10209906	70985304	22	1685											
KRTAP9-2	83899	broad.mit.edu	37	chr17	39383275	39383275	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agaagaacctgctactacccCacgactgtctgcctgcctgg	9	15	1	2	rs375874726		TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr17:39383275C>G	ENST00000377721.3	+	1	376	c.369C>G	c.(367-369)ccC>ccG	p.P123P	KRTAP9-2_ENST00000455970.2_Silent_p.P107P	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9-2	123	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament (GO:0045095)				large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCTACTACCCCACGACTGTCT	0.627													.|||	1	0.000199681	0	0	5008	,	,		20112	0		0	False		,,,				2504	0.001					ENST00000377721.3																			0				large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(367-369)ccC>ccG		keratin associated protein 9-2							162	155	157					17																	39383275		2203	4300	6503	SO:0001819	synonymous_variant	83899					keratin filament	protein binding	g.chr17:39383275C>G	AJ406946	CCDS32651.1	17q21.2	2013-06-25			ENSG00000239886	ENSG00000239886		"Keratin associated proteins"	16926	protein-coding gene	gene with protein product						11279113	Standard	NM_031961		Approved	KAP9.2	uc002hwf.3	Q9BYQ4	OTTHUMG00000133609	ENST00000377721.3:c.369C>G	17.37:g.39383275C>G						KRTAP9-2_ENST00000455970.2_Silent_p.P107P	p.P123P	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	376	+		Breast(137;0.000496)	123			17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].		Q17RK8|Q2TB15|Q6ISF6	Silent	SNP	ENST00000377721.3	37	c.369C>G	CCDS32651.1																																																																																				0.627	KRTAP9-2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257717.1			3	171	0	0	0	0.004672	0	3	171					G	39383275	C	G	39383275	2	3	73	1	0	0	0	0	0	0	0	1	8573	581	21	4		4	KRTAP9-2	17	39383275	Silent	SNP	C	TCGA-DJ-A13R-01A-11D-A10S-08	29173369	39383275	41811935	23	1686											
APPBP2	10513	broad.mit.edu	37	chr17	58539389	58539389	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcatgtttaattaactgttCtgccttcttaaattcacgtt	5	8	3	0			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr17:58539389C>T	ENST00000083182.3	-	7	1083	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	APPBP2_ENST00000592995.1_5'UTR	NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	266					intracellular protein transport (GO:0006886)|intracellular transport (GO:0046907)|metabolic process (GO:0008152)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	microtubule motor activity (GO:0003777)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			ATTAACTGTTCTGCCTTCTTA	0.289																																						ENST00000083182.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25						c.(796-798)Gaa>Aaa		amyloid beta precursor protein (cytoplasmic tail) binding protein 2							118	125	123					17																	58539389		2203	4295	6498	SO:0001583	missense	10513				intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding	g.chr17:58539389C>T	AF017782	CCDS32699.1	17q23.2	2012-09-20	2001-11-28		ENSG00000062725	ENSG00000062725			622	protein-coding gene	gene with protein product	"protein interacting with APP tail 1"	605324	"amyloid beta precursor protein (cytoplasmic tail)-binding protein 2"			9843960	Standard	NM_006380		Approved	KIAA0228, Hs.84084, PAT1	uc002iys.1	Q92624		ENST00000083182.3:c.796G>A	17.37:g.58539389C>T	ENSP00000083182:p.Glu266Lys					APPBP2_ENST00000592995.1_5'UTR	p.E266K	NM_006380.2	NP_006371.2	Q92624	APBP2_HUMAN	Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)		7	1083	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		266					A8K862|O95095|Q8WVC9	Missense_Mutation	SNP	ENST00000083182.3	37	c.796G>A	CCDS32699.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781223	0.70222	.	.	ENSG00000062725	ENST00000083182	T	0.76186	-1.0	5.57	5.57	0.84162	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.76786	0.4036	L	0.40543	1.245	0.80722	D	1	P	0.40332	0.713	P	0.51742	0.678	T	0.69139	-0.5224	10	0.12430	T	0.62	-3.744	19.5591	0.95366	0.0:1.0:0.0:0.0	.	266	Q92624	APBP2_HUMAN	K	266	ENSP00000083182:E266K	ENSP00000083182:E266K	E	-	1	0	APPBP2	55894171	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.449000	0.80643	2.626000	0.88956	0.557000	0.71058	GAA		0.289	APPBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449465.1	NM_006380		4	241	0	0	0	0.009096	0	4	241					T	58539389	C	T	58539389	3	4	73	1	0	0	0	0	1	0	0	0	816	922	32	2	989	2	APPBP2	17	58539389	Missense_Mutation	SNP	C	TCGA-DJ-A13R-01A-11D-A10S-08	19156114	58539389	22655821	24	1687											
CD300LF	146722	broad.mit.edu	37	chr17	72692351	72692351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctgctctggggacatccCggctgctaaaagacaaacaa	9	12	1	1	rs149416788		TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr17:72692351C>T	ENST00000326165.6	-	5	676	c.565G>A	c.(565-567)Ggg>Agg	p.G189R	CD300LF_ENST00000361254.4_Intron|CD300LF_ENST00000301573.9_Missense_Mutation_p.R204Q|RAB37_ENST00000340415.3_Intron|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000581500.1_Intron|CD300LF_ENST00000469092.1_Missense_Mutation_p.R154Q|CD300LF_ENST00000464910.1_Missense_Mutation_p.G192R|CD300LF_ENST00000583937.1_Missense_Mutation_p.G204R|CD300LF_ENST00000343125.4_Missense_Mutation_p.R154Q	NM_139018.3	NP_620587.2	Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	189					immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GGGGACATCCCGGCTGCTAAA	0.493																																						ENST00000469092.1																			0				endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(460-462)cGg>cAg		CD300 molecule-like family member f		C	ARG/GLY,	0,4406		0,0,2203	103	110	108		565,	3.9	0.0	17	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron	CD300LF,RAB37	NM_139018.3,NM_175738.4	125,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,	189/291,	72692351	1,13005	2203	4300	6503	SO:0001583	missense	146722					integral to membrane|plasma membrane	receptor activity	g.chr17:72692351C>T	BC028199	CCDS11704.1, CCDS74148.1, CCDS74149.1, CCDS74150.1, CCDS74151.1, CCDS74152.1	17q25.2	2013-01-11	2006-03-29		ENSG00000186074	ENSG00000186074		"Immunoglobulin superfamily / V-set domain containing"	29883	protein-coding gene	gene with protein product		609807	"CD300 antigen like family member F"			12975309	Standard	NM_139018		Approved	IREM1, NKIR, IGSF13, CD300f, CLM1	uc002jlg.3	Q8TDQ1	OTTHUMG00000067609	ENST00000326165.6:c.565G>A	17.37:g.72692351C>T	ENSP00000327075:p.Gly189Arg					CD300LF_ENST00000343125.4_Missense_Mutation_p.R154Q|CD300LF_ENST00000301573.9_Missense_Mutation_p.R204Q|CD300LF_ENST00000583937.1_Missense_Mutation_p.G204R|CD300LF_ENST00000326165.6_Missense_Mutation_p.G189R|CD300LF_ENST00000464910.1_Missense_Mutation_p.G192R|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000581500.1_Intron|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000361254.4_Intron	p.R154Q			Q8TDQ1	CLM1_HUMAN			5	737	-			0					B2RCL2|C9JDN3|Q3Y6P0|Q6UX24|Q7Z6A6|Q7Z7I4|Q7Z7I5|Q8N6D0|Q8NAF5	Missense_Mutation	SNP	ENST00000326165.6	37	c.461G>A	CCDS11704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.499|8.499	0.863862|0.863862	0.17250|0.17250	0.0|0.0	1.16E-4|1.16E-4	ENSG00000186074|ENSG00000186074	ENST00000326165|ENST00000301573;ENST00000343125	T|T;T	0.42513|0.08807	0.97|3.05;3.64	3.87|3.87	3.87|3.87	0.44632|0.44632	.|.	2.329780|.	0.02034|.	N|.	0.048779|.	T|T	0.07728|0.07728	0.0194|0.0194	M|M	0.64404|0.64404	1.975|1.975	0.09310|0.09310	N|N	1|1	D;D;D|B;P	0.56035|0.42248	0.974;0.974;0.961|0.09;0.774	P;P;P|B;B	0.46076|0.25759	0.499;0.499;0.503|0.016;0.063	T|T	0.27536|0.27536	-1.0071|-1.0071	10|9	0.72032|0.22706	D|T	0.01|0.39	.|.	11.6348|11.6348	0.51198|0.51198	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	204;189;192|154;204	E7EME0;Q8TDQ1;Q8TDQ1-6|Q8TDQ1-4;Q8TDQ1-5	.;CLM1_HUMAN;.|.;.	R|Q	189|204;154	ENSP00000327075:G189R|ENSP00000301573:R204Q;ENSP00000343751:R154Q	ENSP00000327075:G189R|ENSP00000301573:R204Q	G|R	-|-	1|2	0|0	CD300LF|CD300LF	70203946|70203946	0.050000|0.050000	0.20438|0.20438	0.011000|0.011000	0.14972|0.14972	0.003000|0.003000	0.03518|0.03518	2.682000|2.682000	0.46934|0.46934	2.467000|2.467000	0.83353|0.83353	0.655000|0.655000	0.94253|0.94253	GGG|CGG		0.493	CD300LF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000145085.1	NM_139018		5	211	0	0	0	0.014758	0	5	211					T	72692351	C	T	72692351	3	4	73	1	0	0	0	0	1	0	0	0	3001	652	23	1	319	1	CD300LF	17	72692351	Missense_Mutation	SNP	C	TCGA-DJ-A13R-01A-11D-A10S-08	14152962	72692351	8502859	25	1688											
FADS6	283985	broad.mit.edu	37	chr17	72874555	72874555	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgagccaggtatgagtcctCgttgtacggtagctgcttct	13	10	1	1	rs145096183		TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr17:72874555C>T	ENST00000310226.6	-	6	972	c.958G>A	c.(958-960)Gag>Aag	p.E320K		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	326					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					TATGAGTCCTCGTTGTACGGT	0.587													C|||	1	0.000199681	0	0	5008	,	,		19666	0		0.001	False		,,,				2504	0					ENST00000310226.6																			0				endometrium(3)|kidney(1)|lung(4)	8						c.(958-960)Gag>Aag		fatty acid desaturase 6							94	98	97					17																	72874555		2063	4176	6239	SO:0001583	missense	283985				fatty acid biosynthetic process	integral to membrane	oxidoreductase activity	g.chr17:72874555C>T	AK094411	CCDS54163.1	17q25.1	2014-07-17	2013-01-25			ENSG00000172782		"Fatty acid desaturases"	30459	protein-coding gene	gene with protein product			"fatty acid desaturase domain family, member 6"				Standard	XM_005257224		Approved		uc002jmd.1	Q8N9I5		ENST00000310226.6:c.958G>A	17.37:g.72874555C>T	ENSP00000307821:p.Glu320Lys						p.E320K	NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN			6	972	-	all_lung(278;0.172)|Lung NSC(278;0.207)		326					Q17RQ7|Q6XYE1	Missense_Mutation	SNP	ENST00000310226.6	37	c.958G>A	CCDS54163.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	20.6	4.022747	0.75275	.	.	ENSG00000172782	ENST00000310226;ENST00000413142	T	0.17370	2.28	5.49	4.5	0.54988	Fatty acid desaturase, type 1 (1);	0.052904	0.64402	D	0.000001	T	0.31827	0.0809	M	0.72894	2.215	0.47584	D	0.999462	P;D	0.63046	0.934;0.992	P;P	0.52856	0.585;0.711	T	0.08330	-1.0727	10	0.29301	T	0.29	-1.0603	16.0906	0.81088	0.0:0.8658:0.1342:0.0	.	174;326	B4DEP0;Q8N9I5	.;FADS6_HUMAN	K	320;174	ENSP00000307821:E320K	ENSP00000307821:E320K	E	-	1	0	FADS6	70386150	0.999000	0.42202	0.975000	0.42487	0.037000	0.13140	4.135000	0.57997	1.281000	0.44480	0.655000	0.94253	GAG		0.587	FADS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445219.1			20	65	0	0	0	0.043863	0	20	65					T	72874555	C	T	72874555	3	4	73	1	0	0	0	0	1	0	0	0	5368	893	31	1	98	1	FADS6	17	72874555	Missense_Mutation	SNP	C	TCGA-DJ-A13R-01A-11D-A10S-08	182204	72874555	8320655	26	1689											
CEP192	55125	broad.mit.edu	37	chr18	13068880	13068880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcagcagaagaattctcgGcaaaagttgatatcgaagtt	9	7	2	3			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr18:13068880G>A	ENST00000325971.8	+	23	4657	c.3064G>A	c.(3064-3066)Gca>Aca	p.A1022T	CEP192_ENST00000506447.1_Missense_Mutation_p.A1618T|CEP192_ENST00000430049.2_Missense_Mutation_p.A1143T			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1022					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						AGAATTCTCGGCAAAAGTTGA	0.438																																						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.(4852-4854)Gca>Aca		centrosomal protein 192kDa							92	93	92					18																	13068880		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13068880G>A	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.3064G>A	18.37:g.13068880G>A	ENSP00000317156:p.Ala1022Thr					CEP192_ENST00000430049.2_Missense_Mutation_p.A1143T|CEP192_ENST00000325971.8_Missense_Mutation_p.A1022T	p.A1618T	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			25	4932	+			1213					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.4852G>A		.	.	.	.	.	.	.	.	.	.	G	21.9	4.220221	0.79464	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.60424	0.19;0.19;0.19	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.77089	0.4079	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.981;0.992;0.971	T	0.77338	-0.2625	10	0.72032	D	0.01	-22.7992	20.3473	0.98799	0.0:0.0:1.0:0.0	.	1143;1618;220	C9JT09;E9PF99;Q9HCK3	.;.;.	T	1618;1022;1022;1143	ENSP00000427550:A1618T;ENSP00000317156:A1022T;ENSP00000389190:A1143T	ENSP00000317156:A1022T	A	+	1	0	CEP192	13058880	1.000000	0.71417	1.000000	0.80357	0.036000	0.12997	8.619000	0.90938	2.884000	0.98904	0.655000	0.94253	GCA		0.438	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		4	156	0	0	0	0.021553	0	4	156					A	13068880	G	A	13068880	3	1	73	1	0	0	0	0	1	0	0	0	3251	1203	42	2	4946	2	CEP192	18	13068880	Missense_Mutation	SNP	G	TCGA-DJ-A13R-01A-11D-A10S-08		13068880	65008368	27	1690											
RRBP1	6238	broad.mit.edu	37	chr20	17596599	17596599	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actcggccgtgagcttctgcCgctgtgtctgctcatcctcc	10	16	3	1	rs116865999		TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr20:17596599C>A	ENST00000377813.1	-	22	4226	c.3923G>T	c.(3922-3924)cGg>cTg	p.R1308L	RRBP1_ENST00000455029.2_Missense_Mutation_p.R649L|RRBP1_ENST00000470422.1_5'UTR|RRBP1_ENST00000377807.2_Missense_Mutation_p.R875L|RRBP1_ENST00000246043.4_Missense_Mutation_p.R1308L|RRBP1_ENST00000360807.4_Missense_Mutation_p.R875L			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1308					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GAGCTTCTGCCGCTGTGTCTG	0.627																																						ENST00000377813.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						c.(3922-3924)cGg>cTg		ribosome binding protein 1							73	58	63					20																	17596599		2203	4300	6503	SO:0001583	missense	6238				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	g.chr20:17596599C>A	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"ribosome binding protein 1 (dog 180kD homolog)", "ribosome binding protein 1 homolog 180kDa (dog)"			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.3923G>T	20.37:g.17596599C>A	ENSP00000367044:p.Arg1308Leu					RRBP1_ENST00000468428.1_5'UTR|RRBP1_ENST00000455029.2_Missense_Mutation_p.R649L|RRBP1_ENST00000377807.2_Missense_Mutation_p.R875L|RRBP1_ENST00000246043.4_Missense_Mutation_p.R1308L|RRBP1_ENST00000360807.4_Missense_Mutation_p.R875L	p.R1308L			Q9P2E9	RRBP1_HUMAN			22	4226	-			1308					A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	ENST00000377813.1	37	c.3923G>T		.	.	.	.	.	.	.	.	.	.	C	16.47	3.133208	0.56828	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000455029	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45	5.38	4.44	0.53790	.	0.000000	0.31989	N	0.006742	T	0.49745	0.1575	M	0.67953	2.075	0.45806	D	0.99868	D;D	0.76494	0.995;0.999	D;D	0.79784	0.926;0.993	T	0.43212	-0.9405	10	0.30078	T	0.28	-36.5779	11.3942	0.49832	0.0:0.9161:0.0:0.0839	.	875;1308	Q9P2E9-3;Q9P2E9	.;RRBP1_HUMAN	L	875;1308;875;1308;649	ENSP00000354045:R875L;ENSP00000367044:R1308L;ENSP00000367038:R875L;ENSP00000246043:R1308L;ENSP00000401206:R649L	ENSP00000246043:R1308L	R	-	2	0	RRBP1	17544599	1.000000	0.71417	0.699000	0.30290	0.468000	0.32798	5.476000	0.66793	1.272000	0.44329	0.561000	0.74099	CGG		0.627	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576		3	64	1	0	0.014758	0.014758	0.0170285	3	64					A	17596599	C	A	17596599	3	1	73	1	0	0	0	0	1	0	0	0	13678	652	23	4	325	4	RRBP1	20	17596599	Missense_Mutation	SNP	C	TCGA-DJ-A13R-01A-11D-A10S-08		17596599	45428921	28	1691											
ARFGEF2	10564	broad.mit.edu	37	chr20	47611021	47611021	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcagccagctggagctcgctCagctgataggaaccggtgtg	14	11	2	1			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr20:47611021C>T	ENST00000371917.4	+	22	3007	c.3007C>T	c.(3007-3009)Cag>Tag	p.Q1003*		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1003					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)	p.Q1003E(1)		breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GGAGCTCGCTCAGCTGATAGG	0.493																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	ENST00000371917.4																			1	Substitution - Missense(1)	p.Q1003E(1)	lung(1)	breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(3007-3009)Cag>Tag		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)							71	66	68					20																	47611021		2203	4300	6503	SO:0001587	stop_gained	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47611021C>T	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.3007C>T	20.37:g.47611021C>T	ENSP00000360985:p.Gln1003*						p.Q1003*	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		22	3007	+			1003					Q5TFT9|Q9NTS1	Nonsense_Mutation	SNP	ENST00000371917.4	37	c.3007C>T	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	C	41	8.774711	0.98950	.	.	ENSG00000124198	ENST00000371917	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0965	0.97849	0.0:1.0:0.0:0.0	.	.	.	.	X	1003	.	ENSP00000360985:Q1003X	Q	+	1	0	ARFGEF2	47044428	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.776000	0.85560	2.824000	0.97209	0.655000	0.94253	CAG		0.493	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		20	66	0	0	0	0.055883	0	20	66					T	47611021	C	T	47611021	4	4	73	1	0	0	0	0	0	1	0	0	853	827	29	2	3093	2	ARFGEF2	20	47611021	Nonsense_Mutation	SNP	C	TCGA-DJ-A13R-01A-11D-A10S-08	30014422	47611021	15414499	29	1692											
ATXN10	25814	broad.mit.edu	37	chr22	46125386	46125386	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacatccctgtgtttttgcgGcatgctgagttgattgcaag	12	8	0	2			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr22:46125386G>A	ENST00000252934.5	+	7	1075	c.810G>A	c.(808-810)cgG>cgA	p.R270R	ATXN10_ENST00000381061.4_Silent_p.R206R	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	270					cell death (GO:0008219)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		TGTTTTTGCGGCATGCTGAGT	0.468																																						ENST00000252934.5																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10						c.(808-810)cgG>cgA		ataxin 10							189	142	157					22																	46125386		2203	4300	6503	SO:0001819	synonymous_variant	25814				cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm		g.chr22:46125386G>A	AK095309	CCDS14070.1, CCDS54540.1	22q13	2013-02-15	2004-08-12	2004-08-12	ENSG00000130638	ENSG00000130638		"Ataxins"	10549	protein-coding gene	gene with protein product		611150	"spinocerebellar ataxia 10"	SCA10		9973298	Standard	NM_013236		Approved	E46L, FLJ37990	uc003bgm.2	Q9UBB4	OTTHUMG00000150451	ENST00000252934.5:c.810G>A	22.37:g.46125386G>A						ATXN10_ENST00000381061.4_Silent_p.R206R	p.R270R	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)	7	1075	+		Ovarian(80;0.00973)|all_neural(38;0.0417)	270					A6NLC4|B4DG05|O14998|O15009|Q6I9X4	Silent	SNP	ENST00000252934.5	37	c.810G>A	CCDS14070.1																																																																																				0.468	ATXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318142.2	NM_013236		4	173	0	0	0	0.009096	0	4	173					A	46125386	G	A	46125386	2	1	73	1	0	0	0	0	0	0	0	1	1210	1190	42	2		2	ATXN10	22	46125386	Silent	SNP	G	TCGA-DJ-A13R-01A-11D-A10S-08		46125386	5179180	30	1693											
MECP2	4204	broad.mit.edu	37	chrX	153363113	153363113	+	5'UTR	DEL	C	C	-													gctcggcgcggcggcggcggCggcggccattttccggacgg							TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chrX:153363113delC	ENST00000303391.6	-	0	99				MECP2_ENST00000453960.2_Frame_Shift_Del_p.A8fs|MECP2_ENST00000407218.1_5'UTR	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2						adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					gcggcggcggcggcggcCATT	0.776																																						ENST00000453960.2																			0				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23						c.(10-12)ccfs		methyl CpG binding protein 2 (Rett syndrome)							4	5	5					X																	153363113		900	2350	3250	SO:0001623	5_prime_UTR_variant	4204				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity	g.chrX:153363113delC	AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"mental retardation, X-linked 16", "mental retardation, X-linked 79", "Rett syndrome", "methyl CpG binding protein 2 (Rett syndrome)"	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.-151G>-	X.37:g.153363113delC						MECP2_ENST00000303391.6_5'UTR|MECP2_ENST00000407218.1_5'UTR	p.A8fs	NM_001110792.1	NP_001104262.1	P51608	MECP2_HUMAN			1	64	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		0					O15233|Q6QHH9|Q7Z384	Frame_Shift_Del	DEL	ENST00000303391.6	37	c.10delG	CCDS14741.1																																																																																				0.776	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	NM_004992		2	4						2	4	---	---	---	---	-	153363113	C	-	153363113	6	5	73	0	1	1	0	1	0	0	0	0	9423	768	27	0		0	MECP2	23	153363113	5'UTR	DEL	C	TCGA-DJ-A13R-01A-11D-A10S-08		153363113	1907447	31	1694											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290	byFrequency	TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		neuroblastoma RAS viral (v-ras) oncogene homolog							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		124	186	0	0	0	1	0	124	186					C	115256529	T	C	115256529	3	2	74	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-DJ-A13S-01A-11D-A10S-08		115256529	133994092	1	1695											
CEP350	9857	broad.mit.edu	37	chr1	180010893	180010893	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaatagcagctcagcagtcaGaaactgctcgcctcaccaca	7	14	3	1			TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr1:180010893G>T	ENST00000367607.3	+	19	4736	c.4318G>T	c.(4318-4320)Gaa>Taa	p.E1440*		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1440					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TCAGCAGTCAGAAACTGCTCG	0.458																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(4318-4320)Gaa>Taa		centrosomal protein 350kDa							57	52	54					1																	180010893		2203	4300	6503	SO:0001587	stop_gained	9857					centrosome|nucleus|spindle		g.chr1:180010893G>T	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.4318G>T	1.37:g.180010893G>T	ENSP00000356579:p.Glu1440*						p.E1440*	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			19	4736	+			1440					O75068|Q8TDK3|Q8WY20	Nonsense_Mutation	SNP	ENST00000367607.3	37	c.4318G>T	CCDS1336.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.20|17.20	3.330215|3.330215	0.60743|0.60743	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000367607|ENST00000418229	.|.	.|.	.|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.000000|.	0.47852|.	D|.	0.000219|.	.|T	.|0.74191	.|0.3684	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72184	.|-0.4367	.|3	.|.	.|.	.|.	.|.	17.6537|17.6537	0.88172|0.88172	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	1440|48	.|.	.|.	E|R	+|+	1|2	0|0	CEP350|CEP350	178277516|178277516	1.000000|1.000000	0.71417|0.71417	0.843000|0.843000	0.33291|0.33291	0.154000|0.154000	0.21943|0.21943	7.625000|7.625000	0.83145|0.83145	2.692000|2.692000	0.91855|0.91855	0.591000|0.591000	0.81541|0.81541	GAA|AGA		0.458	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		3	31	1	0	1	1	1	3	31					T	180010893	G	T	180010893	4	4	74	1	0	0	0	0	0	1	0	0	3254	943	33	4	4388	4	CEP350	1	180010893	Nonsense_Mutation	SNP	G	TCGA-DJ-A13S-01A-11D-A10S-08	64754364	180010893	69239728	2	1696											
SH2D6	284948	broad.mit.edu	37	chr2	85663607	85663607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcttctcctccgtggcgGccatggtccagcacttcatg	10	15	3	0			TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr2:85663607G>A	ENST00000340326.2	+	4	591	c.430G>A	c.(430-432)Gcc>Acc	p.A144T	Y_RNA_ENST00000384478.1_RNA|SH2D6_ENST00000389938.2_Missense_Mutation_p.A112T|SH2D6_ENST00000481426.2_3'UTR	NM_198482.1	NP_940884.1	Q7Z4S9	SH2D6_HUMAN	SH2 domain containing 6	144	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.									central_nervous_system(1)|lung(2)	3						CTCCGTGGCGGCCATGGTCCA	0.632																																						ENST00000389938.2																			0				central_nervous_system(1)|lung(2)	3						c.(334-336)Gcc>Acc		SH2 domain containing 6							62	55	57					2																	85663607		2203	4300	6503	SO:0001583	missense	284948							g.chr2:85663607G>A	AF450483	CCDS1976.1	2p11.2	2013-02-14			ENSG00000152292	ENSG00000152292		"SH2 domain containing"	30439	protein-coding gene	gene with protein product						12477932	Standard	NM_198482		Approved	FLJ35993	uc002spq.3	Q7Z4S9	OTTHUMG00000130176	ENST00000340326.2:c.430G>A	2.37:g.85663607G>A	ENSP00000341867:p.Ala144Thr					SH2D6_ENST00000340326.2_Missense_Mutation_p.A144T|SH2D6_ENST00000481426.2_3'UTR	p.A112T			Q7Z4S9	SH2D6_HUMAN			20	1648	+			144			SH2.		A6ND14|Q6R306	Missense_Mutation	SNP	ENST00000340326.2	37	c.334G>A	CCDS1976.1	.	.	.	.	.	.	.	.	.	.	G	8.039	0.763534	0.15914	.	.	ENSG00000152292	ENST00000389938;ENST00000340326	D;D	0.92805	-2.41;-3.11	5.25	2.46	0.29980	SH2 motif (4);	0.204092	0.31709	N	0.007183	D	0.88040	0.6330	L	0.49455	1.56	0.21915	N	0.999479	B	0.12630	0.006	B	0.14578	0.011	T	0.77125	-0.2703	10	0.46703	T	0.11	-14.1996	10.2025	0.43094	0.2443:0.0:0.7557:0.0	.	144	Q7Z4S9	SH2D6_HUMAN	T	112;144	ENSP00000374588:A112T;ENSP00000341867:A144T	ENSP00000341867:A144T	A	+	1	0	SH2D6	85517118	0.770000	0.28543	0.148000	0.22405	0.068000	0.16541	0.868000	0.27982	0.065000	0.16485	-1.134000	0.01955	GCC		0.632	SH2D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252493.2	NM_198482		4	70	0	0	0	1	0	4	70					A	85663607	G	A	85663607	3	1	74	1	0	0	0	0	1	0	0	0	14238	1203	42	2	444	2	SH2D6	2	85663607	Missense_Mutation	SNP	G	TCGA-DJ-A13S-01A-11D-A10S-08		85663607	157535766	3	1697											
XIRP2	129446	broad.mit.edu	37	chr2	168105213	168105213	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagcatataaaagataataaGaacgatttttcccccaaagt	5	7	0	2			TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr2:168105213G>A	ENST00000409195.1	+	9	7400	c.7311G>A	c.(7309-7311)aaG>aaA	p.K2437K	XIRP2_ENST00000295237.9_Silent_p.K2437K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.K2215K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2262					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						AAGATAATAAGAACGATTTTT	0.403																																						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.(7309-7311)aaG>aaA		xin actin-binding repeat containing 2							86	88	87					2																	168105213		1833	4087	5920	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168105213G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7311G>A	2.37:g.168105213G>A						XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.K2215K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.K2437K	p.K2437K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	7400	+			2262					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.7311G>A	CCDS42769.1																																																																																				0.403	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		47	94	0	0	0	1	0	47	94					A	168105213	G	A	168105213	2	1	74	1	0	0	0	0	0	0	0	1	17427	933	33	2		2	XIRP2	2	168105213	Silent	SNP	G	TCGA-DJ-A13S-01A-11D-A10S-08	82441606	168105213	75094160	4	1698											
BOC	91653	broad.mit.edu	37	chr3	112993298	112993298	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaccctccaaactcggcaaCcctgagcagatgctgagggg	11	14	1	3			TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr3:112993298C>A	ENST00000495514.1	+	9	2015	c.1311C>A	c.(1309-1311)aaC>aaA	p.N437K	BOC_ENST00000273395.4_Missense_Mutation_p.N437K|BOC_ENST00000355385.3_Missense_Mutation_p.N437K			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	437					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			AACTCGGCAACCCTGAGCAGA	0.632																																						ENST00000495514.1																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1309-1311)aaC>aaA		BOC cell adhesion associated, oncogene regulated							62	57	59					3																	112993298		2203	4300	6503	SO:0001583	missense	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:112993298C>A	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17173	protein-coding gene	gene with protein product	"brother of CDO", "brother of CDON", "cell adhesion associated, oncogene regulated 2"	608708	"Boc homolog (mouse)"			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.1311C>A	3.37:g.112993298C>A	ENSP00000418663:p.Asn437Lys					BOC_ENST00000355385.3_Missense_Mutation_p.N437K|BOC_ENST00000273395.4_Missense_Mutation_p.N437K	p.N437K			Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		9	2015	+			437					A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	c.1311C>A	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	C	0.795	-0.757427	0.03019	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.58358	0.34;0.35;0.34	5.62	3.78	0.43462	.	0.866420	0.10452	N	0.673001	T	0.31295	0.0792	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.16722	0.016;0.007	T	0.24977	-1.0145	10	0.23302	T	0.38	.	8.1435	0.31097	0.1328:0.728:0.0:0.1392	.	437;437	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	K	437	ENSP00000418663:N437K;ENSP00000273395:N437K;ENSP00000347546:N437K	ENSP00000273395:N437K	N	+	3	2	BOC	114475988	0.668000	0.27493	0.614000	0.29051	0.022000	0.10575	0.176000	0.16782	0.687000	0.31509	0.563000	0.77884	AAC		0.632	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		14	135	1	0	2.61681e-11	1	2.91875e-11	14	135					A	112993298	C	A	112993298	3	1	74	1	0	0	0	0	1	0	0	0	1481	506	18	4	1337	4	BOC	3	112993298	Missense_Mutation	SNP	C	TCGA-DJ-A13S-01A-11D-A10S-08		112993298	85029132	5	1699											
PTPN13	5783	broad.mit.edu	37	chr4	87662917	87662917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagttcacaatggagtgcGcacattggtccttcgctttc	10	10	1	1	rs368764035		TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr4:87662917G>A	ENST00000411767.2	+	16	2498	c.2435G>A	c.(2434-2436)cGc>cAc	p.R812H	PTPN13_ENST00000511467.1_Missense_Mutation_p.R812H|PTPN13_ENST00000436978.1_Missense_Mutation_p.R812H|PTPN13_ENST00000427191.2_Missense_Mutation_p.R812H|PTPN13_ENST00000316707.6_Missense_Mutation_p.R812H			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	812	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AATGGAGTGCGCACATTGGTC	0.388																																						ENST00000436978.1																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(2434-2436)cGc>cAc		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,3865		0,1,1932	128	122	124		2435,2435,2435,2435	5.7	1.0	4		124	0,8268		0,0,4134	no	missense,missense,missense,missense	PTPN13	NM_006264.2,NM_080683.2,NM_080684.2,NM_080685.2	29,29,29,29	0,1,6066	AA,AG,GG		0.0,0.0259,0.0082	probably-damaging,probably-damaging,probably-damaging,probably-damaging	812/2467,812/2486,812/2295,812/2491	87662917	1,12133	1933	4134	6067	SO:0001583	missense	0					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87662917G>A		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.2435G>A	4.37:g.87662917G>A	ENSP00000407249:p.Arg812His					PTPN13_ENST00000411767.2_Missense_Mutation_p.R812H|PTPN13_ENST00000316707.6_Missense_Mutation_p.R812H|PTPN13_ENST00000511467.1_Missense_Mutation_p.R812H|PTPN13_ENST00000427191.2_Missense_Mutation_p.R812H	p.R812H	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	16	2915	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	812			FERM.		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.2435G>A	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	G	34	5.402688	0.96030	2.59E-4	0.0	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66	5.73	5.73	0.89815	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.45606	D	0.000345	D	0.91975	0.7458	M	0.79693	2.465	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;1.0	D	0.92333	0.5875	10	0.87932	D	0	.	19.8961	0.96958	0.0:0.0:1.0:0.0	.	812;812;812;812	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	H	812;812;812;812;812;780	ENSP00000408368:R812H;ENSP00000394794:R812H;ENSP00000322675:R812H;ENSP00000407249:R812H;ENSP00000426626:R812H	ENSP00000322675:R812H	R	+	2	0	PTPN13	87881941	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.699000	0.92147	0.655000	0.94253	CGC		0.388	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			3	36	0	0	0	1	0	3	36					A	87662917	G	A	87662917	3	1	74	1	0	0	0	0	1	0	0	0	12782	1087	38	1	2493	1	PTPN13	4	87662917	Missense_Mutation	SNP	G	TCGA-DJ-A13S-01A-11D-A10S-08		87662917	103491359	6	1700											
RAB3C	115827	broad.mit.edu	37	chr5	58120914	58120914	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaatgcccaagttattctgGttgggaacaagtgtgacatg	11	7	1	1			TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr5:58120914G>T	ENST00000282878.4	+	4	590	c.421G>T	c.(421-423)Gtt>Ttt	p.V141F		NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	141					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		AGTTATTCTGGTTGGGAACAA	0.398																																						ENST00000282878.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21						c.(421-423)Gtt>Ttt		RAB3C, member RAS oncogene family							110	99	103					5																	58120914		2203	4300	6503	SO:0001583	missense	115827				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr5:58120914G>T	AY026936	CCDS3976.1	5q13	2008-02-05			ENSG00000152932	ENSG00000152932		"RAB, member RAS oncogene"	30269	protein-coding gene	gene with protein product		612829				12296628	Standard	NM_138453		Approved		uc003jrp.3	Q96E17	OTTHUMG00000097053	ENST00000282878.4:c.421G>T	5.37:g.58120914G>T	ENSP00000282878:p.Val141Phe						p.V141F	NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)	4	590	+		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)	141						Missense_Mutation	SNP	ENST00000282878.4	37	c.421G>T	CCDS3976.1	.	.	.	.	.	.	.	.	.	.	G	35	5.432033	0.96150	.	.	ENSG00000152932	ENST00000282878	D	0.84730	-1.89	6.16	6.16	0.99307	Small GTP-binding protein domain (1);	0.198425	0.33631	N	0.004710	D	0.94248	0.8153	M	0.90198	3.095	0.58432	D	0.999999	D	0.71674	0.998	D	0.75020	0.985	D	0.94165	0.7418	10	0.87932	D	0	-9.2929	20.8598	0.99761	0.0:0.0:1.0:0.0	.	141	Q96E17	RAB3C_HUMAN	F	141	ENSP00000282878:V141F	ENSP00000282878:V141F	V	+	1	0	RAB3C	58156671	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.832000	0.99423	2.937000	0.99478	0.650000	0.86243	GTT		0.398	RAB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214156.2	NM_138453		37	65	1	0	3.21399e-22	1	3.72823e-22	37	65					T	58120914	G	T	58120914	3	4	74	1	0	0	0	0	1	0	0	0	12933	1261	44	4	435	4	RAB3C	5	58120914	Missense_Mutation	SNP	G	TCGA-DJ-A13S-01A-11D-A10S-08		58120914	122794346	7	1701											
MATR3	9782	broad.mit.edu	37	chr5	138643173	138643173	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgggcgtgacctgtctgcGgcaggaataggccttcttgc	14	11	2	1			TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr5:138643173G>A	ENST00000394805.3	+	2	404	c.69G>A	c.(67-69)gcG>gcA	p.A23A	MATR3_ENST00000394800.2_Silent_p.A23A|MATR3_ENST00000509990.1_Silent_p.A23A|MATR3_ENST00000510056.1_Silent_p.A23A|MATR3_ENST00000502929.1_Silent_p.A23A|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000361059.2_Silent_p.A23A	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	23					cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ACCTGTCTGCGGCAGGAATAG	0.478																																						ENST00000394800.2																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(67-69)gcG>gcA		matrin 3							110	108	109					5																	138643173		2203	4300	6503	SO:0001819	synonymous_variant	9782					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding	g.chr5:138643173G>A	M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"myopathy, distal 2"	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.69G>A	5.37:g.138643173G>A						MATR3_ENST00000361059.2_Silent_p.A23A|MATR3_ENST00000509990.1_Silent_p.A23A|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000510056.1_Silent_p.A23A|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000502929.1_Silent_p.A23A|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000394805.3_Silent_p.A23A	p.A23A			P43243	MATR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		6	618	+			23					B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Silent	SNP	ENST00000394805.3	37	c.69G>A	CCDS4210.1																																																																																				0.478	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	NM_018834		64	151	0	0	0	1	0	64	151					A	138643173	G	A	138643173	2	1	74	1	0	0	0	0	0	0	0	1	9337	1103	39	1		1	MATR3	5	138643173	Silent	SNP	G	TCGA-DJ-A13S-01A-11D-A10S-08	80522259	138643173	42272087	8	1702											
TG	7038	broad.mit.edu	37	chr8	133905936	133905961	+	Splice_Site	DEL	TCCTGGCTCCTGTGAGGAAGCAAAGC	TCCTGGCTCCTGTGAGGAAGCAAAGC	-													gttatttttattcccctaggTcctggctcctgtgaggaagc					rs554879042|rs556216152|rs200583950|rs556522511|rs575480573	byFrequency	TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr8:133905936_133905961delTCCTGGCTCCTGTGAGGAAGCAAAGC	ENST00000220616.4	+	11	2803_2828	c.2763_2788delTCCTGGCTCCTGTGAGGAAGCAAAGC	c.(2761-2790)tgtcctggctcctgtgaggaagcaaagctc>tgtc	p.PGSCEEAKL922fs	TG_ENST00000377869.1_Splice_Site_p.PGSCEEAKL922fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	922	Thyroglobulin type-1 8. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.P922T(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TTCCCCTAGGTCCTGGCTCCTGTGAGGAAGCAAAGCTCCGTGTACT	0.518																																						ENST00000220616.4																			1	Substitution - Missense(1)	p.P922T(1)	lung(1)	NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.e11-1		thyroglobulin																																				SO:0001630	splice_region_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133905936_133905961delTCCTGGCTCCTGTGAGGAAGCAAAGC	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.2762-1TCCTGGCTCCTGTGAGGAAGCAAAGC>-	8.37:g.133905936_133905961delTCCTGGCTCCTGTGAGGAAGCAAAGC						TG_ENST00000377869.1_Splice_Site_p.CPGSCEEAKL921_splice	p.CPGSCEEAKL921_splice	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	11	2803_2828	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	921			Thyroglobulin type-1 7.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Splice_Site	DEL	ENST00000220616.4	37	c.2761_splice	CCDS34944.1																																																																																				0.518	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	Frame_Shift_Del	21	120						21	120	---	---	---	---	-	133905961	TCCTGGCTCCTGTGAGGAAGCAAAGC	-	133905936	8	5	74	1	0	1	0	1	0	0	1	0	15810	1681	58	0	2805	0	TG	8	133905936	Splice_Site	DEL	TCCTGGCTCCTGTGAGGAAGCAAAGC	TCGA-DJ-A13S-01A-11D-A10S-08		133905936	12458086	9	1703											
NAV3	89795	broad.mit.edu	37	chr12	78401006	78401006	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taccaaggggagcccttcccAgtccttatctaagcctataa	7	13	1	0			TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr12:78401006A>C	ENST00000397909.2	+	8	1861	c.1688A>C	c.(1687-1689)cAg>cCg	p.Q563P	NAV3_ENST00000536525.2_Missense_Mutation_p.Q563P|NAV3_ENST00000266692.7_Missense_Mutation_p.Q563P|NAV3_ENST00000228327.6_Missense_Mutation_p.Q563P			Q8IVL0	NAV3_HUMAN	neuron navigator 3	563						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGCCCTTCCCAGTCCTTATCT	0.498										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(1687-1689)cAg>cCg		neuron navigator 3							81	80	81					12																	78401006		1905	4122	6027	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78401006A>C	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1688A>C	12.37:g.78401006A>C	ENSP00000381007:p.Gln563Pro	HNSCC(70;0.22)				NAV3_ENST00000536525.2_Missense_Mutation_p.Q563P|NAV3_ENST00000266692.7_Missense_Mutation_p.Q563P|NAV3_ENST00000228327.6_Missense_Mutation_p.Q563P	p.Q563P			Q8IVL0	NAV3_HUMAN			8	1861	+			563					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.1688A>C		.	.	.	.	.	.	.	.	.	.	A	11.28	1.591392	0.28357	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51	5.29	5.29	0.74685	.	0.000000	0.38164	U	0.001789	T	0.13927	0.0337	L	0.51422	1.61	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.04737	-1.0930	10	0.28530	T	0.3	-4.998	11.8452	0.52381	0.8539:0.1461:0.0:0.0	.	563;563	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	P	563	ENSP00000446628:Q563P;ENSP00000446132:Q563P;ENSP00000381007:Q563P;ENSP00000228327:Q563P;ENSP00000266692:Q563P	ENSP00000228327:Q563P	Q	+	2	0	NAV3	76925137	1.000000	0.71417	0.995000	0.50966	0.962000	0.63368	2.999000	0.49473	2.007000	0.58848	0.528000	0.53228	CAG		0.498	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		53	88	0	0	0	1	0	53	88					C	78401006	A	C	78401006	3	2	74	1	0	0	0	0	1	0	0	0	10185	188	7	5	1718	5	NAV3	12	78401006	Missense_Mutation	SNP	A	TCGA-DJ-A13S-01A-11D-A10S-08		78401006	55450889	10	1704											
KLHDC2	23588	broad.mit.edu	37	chr14	50241313	50241313	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaggtgatgttcctcctTctatgtcaggaagctgtgct	11	9	2	2			TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr14:50241313T>C	ENST00000298307.5	+	3	1129	c.268T>C	c.(268-270)Tct>Cct	p.S90P	KLHDC2_ENST00000553538.1_3'UTR|KLHDC2_ENST00000554589.1_Missense_Mutation_p.S90P|KLHDC2_ENST00000557247.1_Missense_Mutation_p.S90P	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	90						nucleus (GO:0005634)				endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					TGTTCCTCCTTCTATGTCAGG	0.383																																						ENST00000298307.5																			0				endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(268-270)Tct>Cct		kelch domain containing 2							208	190	196					14																	50241313		2203	4300	6503	SO:0001583	missense	23588					nucleus	protein binding	g.chr14:50241313T>C	AK001771	CCDS9693.1	14q21.3	2003-01-15			ENSG00000165516	ENSG00000165516			20231	protein-coding gene	gene with protein product		611280				11384994	Standard	NM_014315		Approved	HCLP-1, LCP	uc001wwx.3	Q9Y2U9	OTTHUMG00000140288	ENST00000298307.5:c.268T>C	14.37:g.50241313T>C	ENSP00000298307:p.Ser90Pro					KLHDC2_ENST00000557247.1_Missense_Mutation_p.S90P|KLHDC2_ENST00000553538.1_3'UTR|KLHDC2_ENST00000554589.1_Missense_Mutation_p.S90P	p.S90P	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN			3	1129	+	all_epithelial(31;0.000959)|Breast(41;0.0117)		90					B3KPF9|Q6IAF0|Q86TY9	Missense_Mutation	SNP	ENST00000298307.5	37	c.268T>C	CCDS9693.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.333221	0.81801	.	.	ENSG00000165516	ENST00000298307;ENST00000554589;ENST00000557247	T;T;T	0.62105	0.05;0.05;0.05	5.95	5.95	0.96441	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.53626	0.1808	L	0.35644	1.08	0.58432	D	0.999998	B;B;B	0.21520	0.006;0.046;0.057	B;B;B	0.23574	0.01;0.028;0.047	T	0.48614	-0.9020	10	0.19147	T	0.46	-20.6516	16.4159	0.83738	0.0:0.0:0.0:1.0	.	90;90;90	G3V2H2;G3V3U8;Q9Y2U9	.;.;KLDC2_HUMAN	P	90	ENSP00000298307:S90P;ENSP00000451439:S90P;ENSP00000450658:S90P	ENSP00000298307:S90P	S	+	1	0	KLHDC2	49311063	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	4.729000	0.62008	2.279000	0.76181	0.533000	0.62120	TCT		0.383	KLHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276869.1			20	283	0	0	0	1	0	20	283					C	50241313	T	C	50241313	3	2	74	1	0	0	0	0	1	0	0	0	8356	1783	62	3	278	3	KLHDC2	14	50241313	Missense_Mutation	SNP	T	TCGA-DJ-A13S-01A-11D-A10S-08		50241313	57108227	11	1705											
DNAH3	55567	broad.mit.edu	37	chr16	21048162	21048162	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actccaggaaataaatcagaTataattccctgttaaaaaga	5	7	1	2	rs147656718	byFrequency	TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr16:21048162T>C	ENST00000261383.3	-	35	4958	c.4959A>G	c.(4957-4959)atA>atG	p.I1653M	DNAH3_ENST00000415178.1_Missense_Mutation_p.I1653M	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1653					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)		ATAAATCAGATATAATTCCCT	0.323													T|||	4	0.000798722	0	0.0014	5008	,	,		18334	0		0.003	False		,,,				2504	0					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.(4957-4959)atA>atG		dynein, axonemal, heavy chain 3		T	MET/ILE	2,4400	4.2+/-10.8	0,2,2199	47	49	49		4959	-4.4	1.0	16	dbSNP_134	49	46,8554	30.1+/-81.4	0,46,4254	yes	missense	DNAH3	NM_017539.1	10	0,48,6453	CC,CT,TT		0.5349,0.0454,0.3692	possibly-damaging	1653/4117	21048162	48,12954	2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21048162T>C	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.4959A>G	16.37:g.21048162T>C	ENSP00000261383:p.Ile1653Met					DNAH3_ENST00000415178.1_Missense_Mutation_p.I1653M	p.I1653M	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	35	4958	-			1653					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.4959A>G	CCDS10594.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	T	13.13	2.145958	0.37923	4.54E-4	0.005349	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.41400	1.0;1.0	5.35	-4.42	0.03579	.	0.000000	0.85682	D	0.000000	T	0.42877	0.1222	M	0.64404	1.975	0.50632	D	0.999883	D	0.76494	0.999	D	0.69142	0.962	T	0.53056	-0.8492	10	0.62326	D	0.03	.	9.469	0.38831	0.1887:0.0:0.5271:0.2843	.	1653	Q8TD57	DYH3_HUMAN	M	1653	ENSP00000261383:I1653M;ENSP00000394245:I1653M	ENSP00000261383:I1653M	I	-	3	3	DNAH3	20955663	1.000000	0.71417	0.989000	0.46669	0.966000	0.64601	1.211000	0.32382	-0.530000	0.06349	0.460000	0.39030	ATA		0.323	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		4	88	0	0	0	1	0	4	88					C	21048162	T	C	21048162	3	2	74	1	0	0	0	0	1	0	0	0	4603	1396	49	3	7502	3	DNAH3	16	21048162	Missense_Mutation	SNP	T	TCGA-DJ-A13S-01A-11D-A10S-08		21048162	69306591	12	1706											
C16orf3	2622	broad.mit.edu	37	chr16	90095572	90095572	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcctacggggcaggctAcggggcagcttacggggcag	19	11	0	0	rs185580603		TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr16:90095572A>G	ENST00000268699.4	+	2	212				C16orf3_ENST00000408886.2_Missense_Mutation_p.V60A|GAS8_ENST00000540721.1_Intron|GAS8_ENST00000536122.1_Intron	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		ggggcaggctacggggcagct	0.667																																						ENST00000408886.2																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(178-180)gTa>gCa		chromosome 16 open reading frame 3							22	20	21					16																	90095572		2194	4299	6493	SO:0001627	intron_variant	750							g.chr16:90095572A>G	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"growth arrest-specific 11"	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.90+1442A>G	16.37:g.90095572A>G						GAS8_ENST00000540721.1_Intron|GAS8_ENST00000268699.4_Intron|GAS8_ENST00000536122.1_Intron	p.V60A	NM_001214.3	NP_001205.3	O95177	CP003_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	1	737	-		all_cancers(9;9.01e-08)|Hepatocellular(780;0.000325)|Lung NSC(15;0.0104)|all_lung(18;0.0239)	68					B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	37	c.179T>C	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	N	0.409	-0.914041	0.02415	.	.	ENSG00000221819	ENST00000408886	T	0.54866	0.55	.	.	.	.	.	.	.	.	T	0.26231	0.0640	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.20505	-1.0273	4	.	.	.	.	.	.	.	.	68	O95177	CP003_HUMAN	A	60	ENSP00000386218:V60A	.	V	-	2	0	C16orf3	88623073	0.028000	0.19301	0.012000	0.15200	0.013000	0.08279	0.000000	0.12993	0.000000	0.14550	0.000000	0.15137	GTA		0.667	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			3	13	0	0	0	1	0	3	13					G	90095572	A	G	90095572	1	3	74	0	1	0	0	0	0	0	0	0	1812	391	14	3		3	C16orf3	16	90095572	Intron	SNP	A	TCGA-DJ-A13S-01A-11D-A10S-08	69047410	90095572	259181	13	1707											
MUC16	94025	broad.mit.edu	37	chr19	9069489	9069489	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcacctgagaagctacttGcacttggtaaggagctggtc	11	10	1	1			TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr19:9069489G>T	ENST00000397910.4	-	3	18160	c.17957C>A	c.(17956-17958)gCa>gAa	p.A5986E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5988	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.A5986E(2)|p.A1619E(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGCTACTTGCACTTGGTAA	0.483																																						ENST00000397910.4																			3	Substitution - Missense(3)	p.A5986E(2)|p.A1619E(1)	kidney(3)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(17956-17958)gCa>gAa		mucin 16, cell surface associated							153	148	149					19																	9069489		1945	4143	6088	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9069489G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.17957C>A	19.37:g.9069489G>T	ENSP00000381008:p.Ala5986Glu						p.A5986E	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	18160	-			5988			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.17957C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.250	-0.153415	0.06585	.	.	ENSG00000181143	ENST00000397910	T	0.21932	1.98	0.9	-0.55	0.11825	.	.	.	.	.	T	0.04588	0.0125	N	0.00926	-1.1	.	.	.	P	0.35821	0.523	B	0.19666	0.026	T	0.26643	-1.0097	8	0.87932	D	0	.	3.0656	0.06213	0.4598:0.0:0.5402:0.0	.	5986	B5ME49	.	E	5986	ENSP00000381008:A5986E	ENSP00000381008:A5986E	A	-	2	0	MUC16	8930489	0.000000	0.05858	0.000000	0.03702	0.162000	0.22319	-4.840000	0.00179	-0.152000	0.11156	0.281000	0.19383	GCA		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		100	175	1	0	3.07327e-39	1	3.71354e-39	100	175					T	9069489	G	T	9069489	3	4	74	1	0	0	0	0	1	0	0	0	9973	1319	46	4	25894	4	MUC16	19	9069489	Missense_Mutation	SNP	G	TCGA-DJ-A13S-01A-11D-A10S-08		9069489	50059494	14	1708											
EPB41L1	2036	broad.mit.edu	37	chr20	34809819	34809819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggttttctgagacaaggatcGagaagcgaatcatcattact	10	7	3	2			TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr20:34809819G>A	ENST00000338074.2	+	20	2634	c.2473G>A	c.(2473-2475)Gag>Aag	p.E825K	EPB41L1_ENST00000373946.3_Missense_Mutation_p.E645K|EPB41L1_ENST00000373950.2_Missense_Mutation_p.E716K|EPB41L1_ENST00000441639.1_Missense_Mutation_p.E723K|EPB41L1_ENST00000373941.1_Missense_Mutation_p.E824K|EPB41L1_ENST00000202028.5_Missense_Mutation_p.E723K	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	825	C-terminal (CTD).				cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GACAAGGATCGAGAAGCGAAT	0.552																																						ENST00000338074.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						c.(2473-2475)Gag>Aag		erythrocyte membrane protein band 4.1-like 1							134	109	117					20																	34809819		2203	4300	6503	SO:0001583	missense	2036				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	g.chr20:34809819G>A	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.2473G>A	20.37:g.34809819G>A	ENSP00000337168:p.Glu825Lys					EPB41L1_ENST00000441639.1_Missense_Mutation_p.E723K|EPB41L1_ENST00000373941.1_Missense_Mutation_p.E824K|EPB41L1_ENST00000373950.2_Missense_Mutation_p.E716K|EPB41L1_ENST00000373946.3_Missense_Mutation_p.E645K|EPB41L1_ENST00000202028.5_Missense_Mutation_p.E723K	p.E825K	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN			20	2634	+	Breast(12;0.0239)		825			Carboxyl-terminal (CTD).		O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	37	c.2473G>A	CCDS13271.1	.	.	.	.	.	.	.	.	.	.	G	36	5.658836	0.96734	.	.	ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000338074;ENST00000373941;ENST00000454226	D;D;D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84	5.47	5.47	0.80525	Band 4.1, C-terminal (1);	.	.	.	.	D	0.92570	0.7640	M	0.78049	2.395	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;1.0	D;D;D;D;P	0.87578	0.998;0.988;0.996;0.988;0.885	D	0.93216	0.6604	9	0.87932	D	0	.	18.3231	0.90246	0.0:0.0:1.0:0.0	.	825;645;716;716;723	Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2	E41L1_HUMAN;.;.;.;.	K	723;716;716;723;645;825;824;186	ENSP00000202028:E723K;ENSP00000363061:E716K;ENSP00000399214:E723K;ENSP00000363057:E645K;ENSP00000337168:E825K;ENSP00000363052:E824K;ENSP00000388281:E186K	ENSP00000202028:E723K	E	+	1	0	EPB41L1	34273233	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.476000	0.97823	2.564000	0.86499	0.462000	0.41574	GAG		0.552	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		27	51	0	0	0	1	0	27	51					A	34809819	G	A	34809819	3	1	74	1	0	0	0	0	1	0	0	0	5152	1059	37	1	2547	1	EPB41L1	20	34809819	Missense_Mutation	SNP	G	TCGA-DJ-A13S-01A-11D-A10S-08		34809819	28215701	15	1709											
PWP2	5822	broad.mit.edu	37	chr21	45540253	45540253	+	Frame_Shift_Del	DEL	G	G	-													aggtgtggaacaccctcagcGgcttctgcttcgtcactttt							TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr21:45540253delG	ENST00000291576.7	+	11	1340	c.1213delG	c.(1213-1215)ggcfs	p.G405fs		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	405					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		CACCCTCAGCGGCTTCTGCTT	0.632																																						ENST00000291576.7																			0				cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21						c.(1213-1215)gcfs		PWP2 periodic tryptophan protein homolog (yeast)							97	84	88					21																	45540253		2203	4300	6503	SO:0001589	frameshift_variant	5822					cytoplasm|nucleolus	signal transducer activity	g.chr21:45540253delG		CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"WD repeat domain containing"	9711	protein-coding gene	gene with protein product		601475	"PWP2 (periodic tryptophan protein, yeast) homolog"	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.1213delG	21.37:g.45540253delG	ENSP00000291576:p.Gly405fs						p.G405fs	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN		STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)	11	1340	+			405					B2RAG8|Q96A77	Frame_Shift_Del	DEL	ENST00000291576.7	37	c.1213delG	CCDS33579.1																																																																																				0.632	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195736.3	NM_005049		51	120						51	120	---	---	---	---	-	45540253	G	-	45540253	7	5	74	1	0	1	0	1	0	0	0	0	12844	1116	39	0	1255	0	PWP2	21	45540253	Frame_Shift_Del	DEL	G	TCGA-DJ-A13S-01A-11D-A10S-08		45540253	2589642	16	1710											
CDKL5	6792	broad.mit.edu	37	chrX	18664181	18664181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctggaccccaagatagacGcttcatgttaaggacgacag	10	10	2	2			TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chrX:18664181G>A	ENST00000379989.3	+	20	3053	c.2768G>A	c.(2767-2769)cGc>cAc	p.R923H	RS1_ENST00000379984.3_Intron|CDKL5_ENST00000379996.3_Missense_Mutation_p.R923H|RS1_ENST00000476595.1_Intron	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	923			R -> C. {ECO:0000269|PubMed:19241098}.		neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					caagatagacgcttcatgtta	0.478																																						ENST00000379989.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44						c.(2767-2769)cGc>cAc		cyclin-dependent kinase-like 5							164	123	137					X																	18664181		2203	4300	6503	SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18664181G>A	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"Cyclin-dependent kinases"	11411	protein-coding gene	gene with protein product		300203	"serine/threonine kinase 9"	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.2768G>A	X.37:g.18664181G>A	ENSP00000369325:p.Arg923His					RS1_ENST00000379984.3_Intron|CDKL5_ENST00000379996.3_Missense_Mutation_p.R923H|RS1_ENST00000476595.1_Intron	p.R923H	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN			20	3053	+	Hepatocellular(33;0.183)		923		R -> C.			G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.2768G>A	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.194713	0.38806	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.71817	-0.6;-0.6	1.89	-1.23	0.09465	.	0.611520	0.14334	N	0.326200	T	0.42404	0.1201	N	0.08118	0	0.09310	N	1	B	0.28258	0.205	B	0.11329	0.006	T	0.23655	-1.0182	10	0.87932	D	0	.	5.2671	0.15605	0.628:0.0:0.372:0.0	.	923	O76039	CDKL5_HUMAN	H	923	ENSP00000369332:R923H;ENSP00000369325:R923H	ENSP00000369325:R923H	R	+	2	0	CDKL5	18574102	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.311000	0.08124	-0.524000	0.06400	0.418000	0.28097	CGC		0.478	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		20	77	0	0	0	1	0	20	77					A	18664181	G	A	18664181	3	1	74	1	0	0	0	0	1	0	0	0	3157	1087	38	1	2838	1	CDKL5	23	18664181	Missense_Mutation	SNP	G	TCGA-DJ-A13S-01A-11D-A10S-08		18664181	136606379	17	1711											
BCL9	607	broad.mit.edu	37	chr1	147091712	147091712	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgtccccaaccctgcatctaGaccaggtctttctggagtca	8	14	4	1			TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr1:147091712G>T	ENST00000234739.3	+	8	2491	c.1751G>T	c.(1750-1752)aGa>aTa	p.R584I		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	584	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CCTGCATCTAGACCAGGTCTT	0.552			T	"IGH@, IGL@"	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"IGH@, IGL@"		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(1750-1752)aGa>aTa		B-cell CLL/lymphoma 9							83	91	88					1																	147091712		2203	4300	6503	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147091712G>T	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1751G>T	1.37:g.147091712G>T	ENSP00000234739:p.Arg584Ile						p.R584I	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			8	2491	+	all_hematologic(923;0.115)		584			Pro-rich.		Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.1751G>T	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963895	0.74131	.	.	ENSG00000116128	ENST00000234739	T	0.50277	0.75	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.58921	0.2156	L	0.55481	1.735	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.66196	0.942;0.942	T	0.60367	-0.7277	10	0.87932	D	0	-13.6678	19.3785	0.94521	0.0:0.0:1.0:0.0	.	584;584	Q1JQ81;O00512	.;BCL9_HUMAN	I	584	ENSP00000234739:R584I	ENSP00000234739:R584I	R	+	2	0	BCL9	145558336	1.000000	0.71417	0.958000	0.39756	0.972000	0.66771	6.350000	0.73017	2.815000	0.96918	0.561000	0.74099	AGA		0.552	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		6	213	1	0	5.9392e-07	0.021553	8.31488e-07	6	213					T	147091712	G	T	147091712	3	4	75	1	0	0	0	0	1	0	0	0	1381	942	33	4	1769	4	BCL9	1	147091712	Missense_Mutation	SNP	G	TCGA-DJ-A13T-01A-11D-A10S-08		147091712	102158909	1	1712											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		42	79	0	0	0	0.11126	0	42	79					T	140453136	A	T	140453136	3	4	75	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A13T-01A-11D-A10S-08		140453136	18685527	2	1713											
NUMA1	4926	broad.mit.edu	37	chr11	71734181	71734181	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcattctggggaagagggaTgttttcgattttctgcaatg	14	5	2	1	rs140051813	byFrequency	TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr11:71734181T>C	ENST00000393695.3	-	6	552	c.221A>G	c.(220-222)cAt>cGt	p.H74R	NUMA1_ENST00000358965.6_Missense_Mutation_p.H74R|NUMA1_ENST00000351960.6_Missense_Mutation_p.H74R|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GGAAGAGGGATGTTTTCGATT	0.493			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(220-222)cAt>cGt		nuclear mitotic apparatus protein 1							145	127	133					11																	71734181		2200	4293	6493	SO:0001583	missense	0				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71734181T>C	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.221A>G	11.37:g.71734181T>C	ENSP00000377298:p.His74Arg					NUMA1_ENST00000358965.6_Missense_Mutation_p.H74R|NUMA1_ENST00000351960.6_Missense_Mutation_p.H74R	p.H74R	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			6	552	-			74						Missense_Mutation	SNP	ENST00000393695.3	37	c.221A>G	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	T	12.23	1.874908	0.33069	.	.	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000542977;ENST00000537217;ENST00000544238;ENST00000543937;ENST00000543009;ENST00000537930;ENST00000544129;ENST00000535947;ENST00000535087;ENST00000368959;ENST00000541719;ENST00000366394	T;T;T;T;T;T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02	4.76	3.59	0.41128	.	0.261397	0.33895	N	0.004442	T	0.37320	0.0999	L	0.57536	1.79	0.28089	N	0.931893	B;B;B;B;B;B	0.29646	0.006;0.002;0.002;0.253;0.003;0.16	B;B;B;B;B;B	0.36244	0.018;0.006;0.006;0.22;0.009;0.087	T	0.27331	-1.0077	10	0.10902	T	0.67	.	8.774	0.34751	0.1685:0.0:0.0:0.8315	.	74;74;74;74;74;74	F5H6Y5;F5H4J1;A8K394;Q14980-2;Q14980;Q9BTE9	.;.;.;.;NUMA1_HUMAN;.	R	74	ENSP00000260051:H74R;ENSP00000351851:H74R;ENSP00000377298:H74R;ENSP00000444880:H74R;ENSP00000442936:H74R;ENSP00000442761:H74R;ENSP00000439759:H74R;ENSP00000438821:H74R;ENSP00000438589:H74R;ENSP00000439092:H74R;ENSP00000444175:H74R;ENSP00000439576:H74R	ENSP00000260051:H74R	H	-	2	0	NUMA1	71411829	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	1.413000	0.34725	0.913000	0.36797	0.533000	0.62120	CAT		0.493	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			63	97	0	0	0	0.139131	0	63	97					C	71734181	T	C	71734181	3	2	75	1	0	0	0	0	1	0	0	0	10750	1464	51	3	6214	3	NUMA1	11	71734181	Missense_Mutation	SNP	T	TCGA-DJ-A13T-01A-11D-A10S-08		71734181	63272335	3	1714											
C11orf63	79864	broad.mit.edu	37	chr11	122774973	122774973	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgagcagcctttctccgtacGtgaagagctcaagttcacat	9	12	3	2			TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr11:122774973G>T	ENST00000531316.1	+	2	777	c.685G>T	c.(685-687)Gtg>Ttg	p.V229L	C11orf63_ENST00000307257.6_Missense_Mutation_p.V229L|C11orf63_ENST00000227349.2_Missense_Mutation_p.V229L			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	229					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		TTCTCCGTACGTGAAGAGCTC	0.512																																						ENST00000227349.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(685-687)Gtg>Ttg		chromosome 11 open reading frame 63							121	101	108					11																	122774973		2202	4299	6501	SO:0001583	missense	79864							g.chr11:122774973G>T	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.685G>T	11.37:g.122774973G>T	ENSP00000431669:p.Val229Leu					C11orf63_ENST00000531316.1_Missense_Mutation_p.V229L|C11orf63_ENST00000307257.6_Missense_Mutation_p.V229L	p.V229L	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	3	982	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	229					A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	ENST00000531316.1	37	c.685G>T	CCDS8438.1	.	.	.	.	.	.	.	.	.	.	G	3.208	-0.162187	0.06502	.	.	ENSG00000109944	ENST00000307257;ENST00000227349;ENST00000531316	T;T	0.40225	1.04;1.04	5.65	-8.44	0.00950	.	1.159560	0.06549	N	0.744570	T	0.06690	0.0171	N	0.00116	-2.08	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.39461	-0.9613	10	0.07030	T	0.85	0.4346	6.7368	0.23413	0.1178:0.4837:0.292:0.1065	.	229;229	Q6NUN7;Q6NUN7-2	CK063_HUMAN;.	L	229	ENSP00000227349:V229L;ENSP00000431669:V229L	ENSP00000227349:V229L	V	+	1	0	C11orf63	122280183	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-1.705000	0.01896	-0.706000	0.05028	-0.150000	0.13652	GTG		0.512	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		5	181	1	0	1.23904e-05	0.014758	1.62624e-05	5	181					T	122774973	G	T	122774973	3	4	75	1	0	0	0	0	1	0	0	0	1654	1145	40	4	691	4	C11orf63	11	122774973	Missense_Mutation	SNP	G	TCGA-DJ-A13T-01A-11D-A10S-08	51040792	122774973	12231543	4	1715											
SLC38A4	55089	broad.mit.edu	37	chr12	47168909	47168909	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catgagaagggggatgtctaAtgtatacactttgctgtagg	13	5	1	1			TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr12:47168909A>T	ENST00000447411.1	-	13	1428	c.1222T>A	c.(1222-1224)Tta>Ata	p.L408I	SLC38A4_ENST00000266579.4_Missense_Mutation_p.L408I	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	408					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					GGGATGTCTAATGTATACACT	0.438																																						ENST00000447411.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21						c.(1222-1224)Tta>Ata		solute carrier family 38, member 4							159	141	147					12																	47168909		2203	4300	6503	SO:0001583	missense	55089				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:47168909A>T	AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"Solute carriers"	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.1222T>A	12.37:g.47168909A>T	ENSP00000389843:p.Leu408Ile					SLC38A4_ENST00000266579.4_Missense_Mutation_p.L408I	p.L408I	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN			13	1428	-	Lung SC(27;0.192)|Renal(347;0.236)		408					A8K553	Missense_Mutation	SNP	ENST00000447411.1	37	c.1222T>A	CCDS8750.1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.717134	0.48622	.	.	ENSG00000139209	ENST00000447411;ENST00000266579	T;T	0.04603	3.59;3.59	5.94	5.94	0.96194	.	0.119095	0.64402	D	0.000008	T	0.03178	0.0093	N	0.04203	-0.255	0.25696	N	0.98563	B	0.06786	0.001	B	0.08055	0.003	T	0.46456	-0.9190	10	0.23302	T	0.38	-18.7464	16.3908	0.83537	1.0:0.0:0.0:0.0	.	408	Q969I6	S38A4_HUMAN	I	408	ENSP00000389843:L408I;ENSP00000266579:L408I	ENSP00000266579:L408I	L	-	1	2	SLC38A4	45455176	1.000000	0.71417	0.980000	0.43619	0.613000	0.37349	7.518000	0.81795	2.269000	0.75478	0.455000	0.32223	TTA		0.438	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404574.1			60	95	0	0	0	0.139131	0	60	95					T	47168909	A	T	47168909	3	4	75	1	0	0	0	0	1	0	0	0	14606	98	4	5	437	5	SLC38A4	12	47168909	Missense_Mutation	SNP	A	TCGA-DJ-A13T-01A-11D-A10S-08		47168909	86682986	5	1716											
HPD	3242	broad.mit.edu	37	chr12	122292689	122292689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catgattttggcgccccgttCccgtgctttctgcagagaag	11	12	1	2			TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr12:122292689C>T	ENST00000289004.4	-	7	369	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	RP11-7M8.2_ENST00000543848.1_RNA|HPD_ENST00000543163.1_Missense_Mutation_p.E73K	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	112					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	GCGCCCCGTTCCCGTGCTTTC	0.597																																						ENST00000543163.1																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18						c.(217-219)Gaa>Aaa		4-hydroxyphenylpyruvate dioxygenase	Nitisinone(DB00348)						133	114	120					12																	122292689		2203	4300	6503	SO:0001583	missense	3242				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding	g.chr12:122292689C>T	BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	1.13.11.27		5147	protein-coding gene	gene with protein product	"glyoxalase domain containing 3"	609695		PPD			Standard	NM_001171993		Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000289004.4:c.334G>A	12.37:g.122292689C>T	ENSP00000289004:p.Glu112Lys					HPD_ENST00000289004.4_Missense_Mutation_p.E112K	p.E73K	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	8	662	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		112					A8K461|B3KQ63|Q13234	Missense_Mutation	SNP	ENST00000289004.4	37	c.217G>A	CCDS9224.1	.	.	.	.	.	.	.	.	.	.	C	9.485	1.099158	0.20552	.	.	ENSG00000158104	ENST00000289004;ENST00000545969;ENST00000543163	T;T	0.64438	-0.1;-0.1	5.41	5.41	0.78517	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.222718	0.45606	D	0.000355	T	0.44705	0.1306	N	0.20483	0.58	0.80722	D	1	B	0.06786	0.001	B	0.13407	0.009	T	0.35549	-0.9784	10	0.09843	T	0.71	-23.7139	13.875	0.63647	0.0:0.8474:0.1526:0.0	.	112	P32754	HPPD_HUMAN	K	112;109;73	ENSP00000289004:E112K;ENSP00000441677:E73K	ENSP00000289004:E112K	E	-	1	0	HPD	120777072	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.431000	0.59915	2.542000	0.85734	0.563000	0.77884	GAA		0.597	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402184.1	NM_002150		55	65	0	0	0	0.139131	0	55	65					T	122292689	C	T	122292689	3	4	75	1	0	0	0	0	1	0	0	0	7332	864	30	2	879	2	HPD	12	122292689	Missense_Mutation	SNP	C	TCGA-DJ-A13T-01A-11D-A10S-08	75123780	122292689	11559206	6	1717											
SLITRK1	114798	broad.mit.edu	37	chr13	84453858	84453858	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctccgccaacccagtgctGtttttactgtgcgaagttaa	9	11	1	0			TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr13:84453858G>A	ENST00000377084.2	-	1	2670	c.1785C>T	c.(1783-1785)aaC>aaT	p.N595N		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	595					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		ACCCAGTGCTGTTTTTACTGT	0.542																																						ENST00000377084.2																			0				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80						c.(1783-1785)aaC>aaT		SLIT and NTRK-like family, member 1							99	87	91					13																	84453858		2203	4300	6503	SO:0001819	synonymous_variant	114798					integral to membrane		g.chr13:84453858G>A	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1785C>T	13.37:g.84453858G>A							p.N595N	NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	2670	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	595					Q5U5I6|Q96SF9	Silent	SNP	ENST00000377084.2	37	c.1785C>T	CCDS9464.1																																																																																				0.542	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		4	62	0	0	0	0.014758	0	4	62					A	84453858	G	A	84453858	2	1	75	1	0	0	0	0	0	0	0	1	14742	1368	48	2		2	SLITRK1	13	84453858	Silent	SNP	G	TCGA-DJ-A13T-01A-11D-A10S-08		84453858	30716020	7	1718											
BFAR	51283	broad.mit.edu	37	chr16	14761616	14761617	+	Frame_Shift_Del	DEL	TT	TT	-													tgttttactgggccctgtacTttaacccaattattaacatt							TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr16:14761616_14761617delTT	ENST00000261658.2	+	8	1562_1563	c.1285_1286delTT	c.(1285-1287)tttfs	p.F429fs	BFAR_ENST00000563971.1_Frame_Shift_Del_p.F304fs|BFAR_ENST00000426842.2_Frame_Shift_Del_p.F301fs|BFAR_ENST00000563082.1_3'UTR	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	429					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						GGCCCTGTACTTTAACCCAATT	0.495																																						ENST00000261658.2																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						c.(1285-1287)tfs		bifunctional apoptosis regulator																																				SO:0001589	frameshift_variant	51283				anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding	g.chr16:14761616_14761617delTT	AF173003	CCDS10554.1	16p13.2	2013-01-10			ENSG00000103429	ENSG00000103429		"RING-type (C3HC4) zinc fingers", "Sterile alpha motif (SAM) domain containing"	17613	protein-coding gene	gene with protein product						10716992	Standard	NM_016561		Approved	BAR, RNF47	uc002dco.3	Q9NZS9	OTTHUMG00000129848	ENST00000261658.2:c.1285_1286delTT	16.37:g.14761616_14761617delTT	ENSP00000261658:p.Phe429fs					BFAR_ENST00000426842.2_Frame_Shift_Del_p.F301fs|BFAR_ENST00000563971.1_Frame_Shift_Del_p.F304fs|BFAR_ENST00000563082.1_3'UTR	p.F429fs	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN			8	1562_1563	+			429					A8K4Z9|B4DUT0|D3DUG8	Frame_Shift_Del	DEL	ENST00000261658.2	37	c.1285_1286delTT	CCDS10554.1																																																																																				0.495	BFAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252088.1	NM_016561		9	247						9	247	---	---	---	---	-	14761617	TT	-	14761616	7	5	75	1	0	1	0	1	0	0	0	0	1414	1609	56	0	1311	0	BFAR	16	14761616	Frame_Shift_Del	DEL	TT	TCGA-DJ-A13T-01A-11D-A10S-08		14761616	75593137	8	1719											
GOT2	2806	broad.mit.edu	37	chr16	58743338	58743338	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacctgttcaggctttagccCtgtgaaacagaacatgccaa	8	12	1	2			TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr16:58743338C>A	ENST00000245206.5	-	9	1281	c.1153G>T	c.(1153-1155)Ggg>Tgg	p.G385W	GOT2_ENST00000434819.2_Missense_Mutation_p.G342W	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	385					2-oxoglutarate metabolic process (GO:0006103)|4-hydroxyproline catabolic process (GO:0019470)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid transport (GO:0015908)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|oxaloacetate metabolic process (GO:0006107)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)	GGCTTTAGCCCTGTGAAACAG	0.458																																						ENST00000245206.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22						c.(1153-1155)Ggg>Tgg		glutamic-oxaloacetic transaminase 2, mitochondrial	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						134	114	121					16																	58743338		2198	4300	6498	SO:0001583	missense	2806				aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding	g.chr16:58743338C>A		CCDS10801.1, CCDS67045.1	16q21	2013-05-29	2013-05-29		ENSG00000125166	ENSG00000125166	2.6.1.1		4433	protein-coding gene	gene with protein product	"kynurenine aminotransferase IV", "aspartate aminotransferase 2", "aspartate transaminase 2"	138150	"glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)"			17442055	Standard	NM_002080		Approved	mitAAT, KATIV, KAT4	uc002eof.1	P00505	OTTHUMG00000133769	ENST00000245206.5:c.1153G>T	16.37:g.58743338C>A	ENSP00000245206:p.Gly385Trp					GOT2_ENST00000434819.2_Missense_Mutation_p.G342W	p.G385W	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN			9	1281	-			385					B4DJA6|E7ERW2|Q53FL3|Q9BWA3	Missense_Mutation	SNP	ENST00000245206.5	37	c.1153G>T	CCDS10801.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.441008	0.83993	.	.	ENSG00000125166	ENST00000245206;ENST00000434819	T;T	0.26518	1.73;1.73	5.25	5.25	0.73442	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.69278	0.3093	H	0.98525	4.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82916	-0.0220	9	.	.	.	-13.867	17.8555	0.88761	0.0:1.0:0.0:0.0	.	342;385	E7ERW2;P00505	.;AATM_HUMAN	W	385;342	ENSP00000245206:G385W;ENSP00000394100:G342W	.	G	-	1	0	GOT2	57300839	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.717000	0.84732	2.446000	0.82766	0.650000	0.86243	GGG		0.458	GOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258289.3			4	170	1	0	0.00909568	0.009096	0.0112358	4	170					A	58743338	C	A	58743338	3	1	75	1	0	0	0	0	1	0	0	0	6581	681	24	4	147	4	GOT2	16	58743338	Missense_Mutation	SNP	C	TCGA-DJ-A13T-01A-11D-A10S-08	43981722	58743338	31611415	9	1720											
NLRP1	22861	broad.mit.edu	37	chr17	5487102	5487102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgctgctccccatactgaGccaccaggtacgaggccacc	9	19	0	1			TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr17:5487102G>A	ENST00000572272.1	-	1	175	c.176C>T	c.(175-177)gCt>gTt	p.A59V	NLRP1_ENST00000354411.3_Missense_Mutation_p.A59V|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Missense_Mutation_p.A59V|NLRP1_ENST00000345221.3_Missense_Mutation_p.A59V|NLRP1_ENST00000262467.5_Missense_Mutation_p.A59V|NLRP1_ENST00000269280.4_Missense_Mutation_p.A59V			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	59	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				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)				CCCATACTGAGCCACCAGGTA	0.637																																						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.(175-177)gCt>gTt		NLR family, pyrin domain containing 1							33	24	27					17																	5487102		2189	4262	6451	SO:0001583	missense	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.chr17:5487102G>A	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.176C>T	17.37:g.5487102G>A	ENSP00000460475:p.Ala59Val					NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Missense_Mutation_p.A59V|NLRP1_ENST00000572272.1_Missense_Mutation_p.A59V|NLRP1_ENST00000577119.1_Missense_Mutation_p.A59V|NLRP1_ENST00000354411.3_Missense_Mutation_p.A59V|NLRP1_ENST00000269280.4_Missense_Mutation_p.A59V	p.A59V	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN			1	730	-		Colorectal(1115;3.48e-05)	59			DAPIN.		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	c.176C>T	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656140	0.67586	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	3.96	2.89	0.33648	Pyrin (2);DEATH-like (2);	0.431953	0.17232	N	0.181903	T	0.60702	0.2289	M	0.74881	2.28	0.09310	N	1	D;D;D;D;D	0.69078	0.996;0.996;0.997;0.996;0.997	P;P;P;P;P	0.61533	0.824;0.824;0.89;0.824;0.89	T	0.48068	-0.9067	10	0.48119	T	0.1	.	8.9609	0.35847	0.0:0.2281:0.7719:0.0	.	59;59;59;59;59	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;NALP1_HUMAN;.;.	V	59	ENSP00000442029:A59V;ENSP00000262467:A59V;ENSP00000269280:A59V;ENSP00000346390:A59V;ENSP00000324366:A59V	ENSP00000262467:A59V	A	-	2	0	NLRP1	5427826	0.431000	0.25546	0.013000	0.15412	0.759000	0.43091	1.459000	0.35234	2.225000	0.72522	0.555000	0.69702	GCT		0.637	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		2	6	0	0	0	0.115264	0	2	6					A	5487102	G	A	5487102	3	1	75	1	0	0	0	0	1	0	0	0	10471	971	34	2	4388	2	NLRP1	17	5487102	Missense_Mutation	SNP	G	TCGA-DJ-A13T-01A-11D-A10S-08		5487102	75708108	10	1721											
MYO15A	51168	broad.mit.edu	37	chr17	18057452	18057452	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccgcccctgcaggtgttttAccccaaggacagctacagcc	9	17	0	0	rs397517287		TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr17:18057452A>G	ENST00000205890.5	+	44	8434	c.8096A>G	c.(8095-8097)tAc>tGc	p.Y2699C	MYO15A_ENST00000585180.1_5'UTR|MYO15A_ENST00000418233.3_5'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2699	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CAGGTGTTTTACCCCAAGGAC	0.637																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(8095-8097)tAc>tGc		myosin XVA							71	84	80					17																	18057452		2034	4193	6227	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18057452A>G	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.8096A>G	17.37:g.18057452A>G	ENSP00000205890:p.Tyr2699Cys					MYO15A_ENST00000418233.3_5'UTR|MYO15A_ENST00000585180.1_5'UTR	p.Y2699C	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			44	8434	+	all_neural(463;0.228)		2699			Tail.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.8096A>G	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	A	17.04	3.286786	0.59867	.	.	ENSG00000091536	ENST00000205890	D	0.89050	-2.46	5.19	5.19	0.71726	.	.	.	.	.	D	0.93562	0.7945	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.93788	0.7090	9	0.59425	D	0.04	.	11.5824	0.50900	0.8511:0.1489:0.0:0.0	.	2699	Q9UKN7	MYO15_HUMAN	C	2699	ENSP00000205890:Y2699C	ENSP00000205890:Y2699C	Y	+	2	0	MYO15A	17998177	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.716000	0.74702	1.952000	0.56665	0.460000	0.39030	TAC		0.637	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		4	108	0	0	0	0.014758	0	4	108					G	18057452	A	G	18057452	3	3	75	1	0	0	0	0	1	0	0	0	10063	391	14	3	8262	3	MYO15A	17	18057452	Missense_Mutation	SNP	A	TCGA-DJ-A13T-01A-11D-A10S-08	12570350	18057452	63137758	11	1722											
FCER2	2208	broad.mit.edu	37	chr19	7754305	7754305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggctggtgggctcccctGgagcccagttgctggagcaa	15	13	0	0			TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr19:7754305G>A	ENST00000346664.5	-	11	952	c.740C>T	c.(739-741)cCa>cTa	p.P247L	FCER2_ENST00000597921.1_Missense_Mutation_p.P247L|FCER2_ENST00000360067.4_Missense_Mutation_p.P246L	NM_001220500.1|NM_002002.4	NP_001207429.1|NP_001993.2	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor for (CD23)	247	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				Notch signaling pathway (GO:0007219)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						GGGCTCCCCTGGAGCCCAGTT	0.677																																						ENST00000346664.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						c.(739-741)cCa>cTa		Fc fragment of IgE, low affinity II, receptor for (CD23)							5	6	5					19																	7754305		2058	4080	6138	SO:0001583	missense	2208				positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding	g.chr19:7754305G>A	M15059	CCDS12184.1	19p13.3	2011-08-30	2006-03-09			ENSG00000104921		"C-type lectin domain containing", "CD molecules"	3612	protein-coding gene	gene with protein product		151445	"Fc fragment of IgE, low affinity II, receptor for (CD23A)"	CD23A, FCE2			Standard	NM_002002		Approved	CLEC4J, CD23	uc002mhm.2	P06734		ENST00000346664.5:c.740C>T	19.37:g.7754305G>A	ENSP00000264072:p.Pro247Leu					FCER2_ENST00000597921.1_Missense_Mutation_p.P247L|FCER2_ENST00000360067.4_Missense_Mutation_p.P246L	p.P247L	NM_001220500.1|NM_002002.4	NP_001207429.1|NP_001993.2	P06734	FCER2_HUMAN			11	952	-			247			C-type lectin.			Missense_Mutation	SNP	ENST00000346664.5	37	c.740C>T	CCDS12184.1	.	.	.	.	.	.	.	.	.	.	G	6.441	0.449598	0.12223	.	.	ENSG00000104921	ENST00000346664;ENST00000360067	T;T	0.20069	2.1;2.1	3.67	-0.232	0.13082	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.18467	0.0443	L	0.55743	1.74	0.09310	N	1	P	0.35226	0.491	B	0.38880	0.284	T	0.31558	-0.9939	9	0.62326	D	0.03	.	1.713	0.02896	0.1269:0.2084:0.4513:0.2134	.	247	P06734	FCER2_HUMAN	L	247;246	ENSP00000264072:P247L;ENSP00000353178:P246L	ENSP00000264072:P247L	P	-	2	0	FCER2	7660305	0.001000	0.12720	0.024000	0.17045	0.007000	0.05969	0.290000	0.18975	0.472000	0.27344	0.478000	0.44815	CCA		0.677	FCER2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461832.1	NM_002002		10	7	0	0	0	0.069234	0	10	7					A	7754305	G	A	7754305	3	1	75	1	0	0	0	0	1	0	0	0	5776	1348	47	2	229	2	FCER2	19	7754305	Missense_Mutation	SNP	G	TCGA-DJ-A13T-01A-11D-A10S-08		7754305	51374678	12	1723											
ZNF607	84775	broad.mit.edu	37	chr19	38190685	38190685	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggacttctgacattgcttaCactcatatggtttctgtcca	7	10	3	1			TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr19:38190685C>A	ENST00000355202.4	-	5	942	c.347G>T	c.(346-348)tGt>tTt	p.C116F	CTD-2528L19.4_ENST00000586606.2_Splice_Site|ZNF607_ENST00000395835.3_Missense_Mutation_p.C115F	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	116					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			ACATTGCTTACACTCATATGG	0.368																																						ENST00000355202.4																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27						c.(346-348)tGt>tTt		zinc finger protein 607							137	141	139					19																	38190685		2203	4300	6503	SO:0001583	missense	84775				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38190685C>A	AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"Zinc fingers, C2H2-type", "-"	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.347G>T	19.37:g.38190685C>A	ENSP00000347338:p.Cys116Phe					ZNF607_ENST00000395835.3_Missense_Mutation_p.C115F|CTD-2528L19.4_ENST00000586606.2_Splice_Site	p.C116F	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)		5	942	-			116					F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	ENST00000355202.4	37	c.347G>T	CCDS33006.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202983	0.38905	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	D;D	0.85088	-1.94;-1.94	1.96	1.96	0.26148	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94251	0.8154	H	0.97158	3.95	0.24826	N	0.992558	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.85599	0.1251	9	0.62326	D	0.03	.	10.9347	0.47239	0.0:1.0:0.0:0.0	.	116;115	Q96SK3;F5H141	ZN607_HUMAN;.	F	116;115	ENSP00000347338:C116F;ENSP00000438015:C115F	ENSP00000347338:C116F	C	-	2	0	ZNF607	42882525	0.562000	0.26586	0.027000	0.17364	0.012000	0.07955	2.836000	0.48183	1.080000	0.41073	0.561000	0.74099	TGT		0.368	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689		88	132	1	0	4.37026e-21	0.139131	6.55538e-21	88	132					A	38190685	C	A	38190685	3	1	75	1	0	0	0	0	1	0	0	0	18030	478	17	4	1747	4	ZNF607	19	38190685	Missense_Mutation	SNP	C	TCGA-DJ-A13T-01A-11D-A10S-08	30436380	38190685	20938298	13	1724											
MAGEB6	158809	broad.mit.edu	37	chrX	26212809	26212809	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagtggtgataatgcgctGccgaagtcgggtctcctgat	14	9	1	3			TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chrX:26212809G>A	ENST00000379034.1	+	2	995	c.846G>A	c.(844-846)ctG>ctA	p.L282L		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	282	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						ATAATGCGCTGCCGAAGTCGG	0.542																																						ENST00000379034.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(844-846)ctG>ctA		melanoma antigen family B, 6							133	122	126					X																	26212809		2202	4300	6502	SO:0001819	synonymous_variant	158809							g.chrX:26212809G>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.846G>A	X.37:g.26212809G>A							p.L282L	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	995	+			282			MAGE.		Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	c.846G>A	CCDS14217.1																																																																																				0.542	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		8	250	0	0	0	0.038147	0	8	250					A	26212809	G	A	26212809	2	1	75	1	0	0	0	0	0	0	0	1	9179	1306	46	2		2	MAGEB6	23	26212809	Silent	SNP	G	TCGA-DJ-A13T-01A-11D-A10S-08		26212809	129057751	14	1725											
FGR	2268	broad.mit.edu	37	chr1	27949582	27949582	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatgtggaacttctcgccCttggtgaaggtgaggtcatc	14	8	2	2			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr1:27949582C>T	ENST00000374005.3	-	4	588	c.300G>A	c.(298-300)aaG>aaA	p.K100K	FGR_ENST00000374004.1_Silent_p.K100K|FGR_ENST00000468038.1_5'Flank|FGR_ENST00000545953.1_Silent_p.K100K|FGR_ENST00000399173.1_Silent_p.K100K	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	FGR proto-oncogene, Src family tyrosine kinase	100	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				blood coagulation (GO:0007596)|defense response to Gram-positive bacterium (GO:0050830)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of innate immune response (GO:0045088)|regulation of phagocytosis (GO:0050764)|regulation of protein kinase activity (GO:0045859)|response to virus (GO:0009615)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|Fc-gamma receptor I complex binding (GO:0034988)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphotyrosine binding (GO:0001784)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ACTTCTCGCCCTTGGTGAAGG	0.552																																						ENST00000374005.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16						c.(298-300)aaG>aaA		feline Gardner-Rasheed sarcoma viral oncogene homolog							216	150	172					1																	27949582		2203	4300	6503	SO:0001819	synonymous_variant	2268				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:27949582C>T	BC064382	CCDS305.1	1p36.2-p36.1	2014-06-25	2014-06-25		ENSG00000000938	ENSG00000000938		"SH2 domain containing"	3697	protein-coding gene	gene with protein product		164940	"Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog", "v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog", "feline Gardner-Rasheed sarcoma viral oncogene homolog"	SRC2		3922831	Standard	NM_001042729		Approved	c-fgr, p55c-fgr	uc001bom.3	P09769	OTTHUMG00000003516	ENST00000374005.3:c.300G>A	1.37:g.27949582C>T						FGR_ENST00000399173.1_Silent_p.K100K|FGR_ENST00000374004.1_Silent_p.K100K|FGR_ENST00000545953.1_Silent_p.K100K	p.K100K	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	4	588	-		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	100			SH3.		D3DPL7|Q9UIQ3	Silent	SNP	ENST00000374005.3	37	c.300G>A	CCDS305.1																																																																																				0.552	FGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009772.1	NM_005248		9	48	0	0	0	0.069234	0	9	48					T	27949582	C	T	27949582	2	4	76	1	0	0	0	0	0	0	0	1	5874	680	24	2		2	FGR	1	27949582	Silent	SNP	C	TCGA-DJ-A13U-01A-11D-A10S-08		27949582	221301039	1	1726											
HCRTR1	3061	broad.mit.edu	37	chr1	32092570	32092570	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctcaccagcgtcaccacaGtgctgccctgagcgagggct	12	15	2	1			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr1:32092570G>T	ENST00000373706.5	+	7	1420	c.1267G>T	c.(1267-1269)Gtg>Ttg	p.V423L	HCRTR1_ENST00000468521.1_Intron|HCRTR1_ENST00000403528.2_Missense_Mutation_p.V423L|HCRTR1_ENST00000373705.1_Intron			O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	423					feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|orexin receptor activity (GO:0016499)|peptide hormone binding (GO:0017046)			breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		CGTCACCACAGTGCTGCCCTG	0.612																																						ENST00000403528.2																			0				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7						c.(1267-1269)Gtg>Ttg		hypocretin (orexin) receptor 1							74	73	73					1																	32092570		2203	4300	6503	SO:0001583	missense	3061				feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane		g.chr1:32092570G>T	AF041243	CCDS344.1	1p33	2012-08-08			ENSG00000121764	ENSG00000121764		"GPCR / Class A : Hypocretin (orexin) receptors"	4848	protein-coding gene	gene with protein product		602392				9491897	Standard	NM_001525		Approved	OX1R	uc009vtx.2	O43613	OTTHUMG00000003876	ENST00000373706.5:c.1267G>T	1.37:g.32092570G>T	ENSP00000362810:p.Val423Leu					HCRTR1_ENST00000373705.1_Intron|HCRTR1_ENST00000468521.1_Intron|HCRTR1_ENST00000373706.5_Missense_Mutation_p.V423L	p.V423L	NM_001525.2	NP_001516.2	O43613	OX1R_HUMAN		STAD - Stomach adenocarcinoma(196;0.053)	9	1652	+		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)	423					A8K3A6|Q9HBV6	Missense_Mutation	SNP	ENST00000373706.5	37	c.1267G>T	CCDS344.1	.	.	.	.	.	.	.	.	.	.	G	5.420	0.262678	0.10294	.	.	ENSG00000121764	ENST00000403528;ENST00000373706	T;T	0.57907	0.37;0.37	4.58	4.58	0.56647	.	0.000000	0.46442	D	0.000291	T	0.23054	0.0557	N	0.01874	-0.695	0.36063	D	0.84156	B	0.09022	0.002	B	0.06405	0.002	T	0.24693	-1.0153	10	0.06365	T	0.9	.	13.6145	0.62099	0.0:0.0:1.0:0.0	.	423	O43613	OX1R_HUMAN	L	423	ENSP00000384387:V423L;ENSP00000362810:V423L	ENSP00000362810:V423L	V	+	1	0	HCRTR1	31865157	0.998000	0.40836	0.981000	0.43875	0.989000	0.77384	3.038000	0.49783	2.478000	0.83669	0.655000	0.94253	GTG		0.612	HCRTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011042.1	NM_001525		4	147	1	0	0.000602214	0.014758	0.000685855	4	147					T	32092570	G	T	32092570	3	4	76	1	0	0	0	0	1	0	0	0	7001	1029	36	4	1293	4	HCRTR1	1	32092570	Missense_Mutation	SNP	G	TCGA-DJ-A13U-01A-11D-A10S-08	4142988	32092570	217158051	2	1727											
COL16A1	1307	broad.mit.edu	37	chr1	32138037	32138037	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttctcctctctggcctgGcaatcccggaggaccaggta	10	15	3	0	rs549508461		TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr1:32138037G>A	ENST00000373672.3	-	47	3601	c.3085C>T	c.(3085-3087)Cca>Tca	p.P1029S	COL16A1_ENST00000271069.6_Missense_Mutation_p.P1029S	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1029	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)		CTCTGGCCTGGCAATCCCGGA	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.(3085-3087)Cca>Tca		collagen, type XVI, alpha 1							83	90	88					1																	32138037		2002	4160	6162	SO:0001583	missense	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32138037G>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.3085C>T	1.37:g.32138037G>A	ENSP00000362776:p.Pro1029Ser					COL16A1_ENST00000271069.6_Missense_Mutation_p.P1029S	p.P1029S	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	47	3601	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	1029			Triple-helical region 2 (COL2) with 2 imperfections.		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	c.3085C>T	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200871	0.58234	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000458715	D;D;D	0.96587	-4.06;-4.06;-2.79	4.45	4.45	0.53987	.	0.138602	0.48767	D	0.000169	D	0.94272	0.8160	N	0.25825	0.765	0.40069	D	0.97599	P;P	0.44380	0.834;0.801	P;P	0.49708	0.62;0.485	D	0.94300	0.7536	10	0.51188	T	0.08	.	12.7965	0.57562	0.0:0.0:1.0:0.0	.	1029;1029	Q07092;Q07092-2	COGA1_HUMAN;.	S	1029;1029;234	ENSP00000362776:P1029S;ENSP00000271069:P1029S;ENSP00000411457:P234S	ENSP00000271069:P1029S	P	-	1	0	COL16A1	31910624	0.996000	0.38824	0.781000	0.31783	0.988000	0.76386	5.276000	0.65580	2.480000	0.83734	0.561000	0.74099	CCA		0.607	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		4	167	0	0	0	0.009096	0	4	167					A	32138037	G	A	32138037	3	1	76	1	0	0	0	0	1	0	0	0	3673	1203	42	2	1829	2	COL16A1	1	32138037	Missense_Mutation	SNP	G	TCGA-DJ-A13U-01A-11D-A10S-08	45467	32138037	217112584	3	1728											
CYP26B1	56603	broad.mit.edu	37	chr2	72362423	72362423	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcggaaggtcagcttctgCgcctcctggtacacgttgat	12	11	2	1	rs369577250	byFrequency	TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr2:72362423C>T	ENST00000001146.2	-	3	758	c.555G>A	c.(553-555)gcG>gcA	p.A185A	CYP26B1_ENST00000546307.1_Silent_p.A110A|CYP26B1_ENST00000412253.1_5'UTR	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	185			A -> V. {ECO:0000269|Ref.4}.		bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						TCAGCTTCTGCGCCTCCTGGT	0.622													C|||	3	0.000599042	0	0	5008	,	,		20088	0		0	False		,,,				2504	0.0031					ENST00000001146.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						c.(553-555)gcG>gcA		cytochrome P450, family 26, subfamily B, polypeptide 1		C		1,4405		0,1,2202	98	96	97		555	-8.7	0.8	2		97	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CYP26B1	NM_019885.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		185/513	72362423	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	56603				cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr2:72362423C>T		CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"Cytochrome P450s"	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.555G>A	2.37:g.72362423C>T						CYP26B1_ENST00000546307.1_Silent_p.A110A|CYP26B1_ENST00000412253.1_5'UTR	p.A185A	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN			3	758	-			185		A -> V.			B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Silent	SNP	ENST00000001146.2	37	c.555G>A	CCDS1919.1																																																																																				0.622	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885		5	184	0	0	0	0.021553	0	5	184					T	72362423	C	T	72362423	2	4	76	1	0	0	0	0	0	0	0	1	4156	755	27	1		1	CYP26B1	2	72362423	Silent	SNP	C	TCGA-DJ-A13U-01A-11D-A10S-08		72362423	170836950	4	1729											
SDAD1	55153	broad.mit.edu	37	chr4	76881302	76881302	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttagcatctaattctccaTattcttgtactcttgcttct	3	11	5	0			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr4:76881302T>C	ENST00000356260.5	-	17	1518	c.1400A>G	c.(1399-1401)tAt>tGt	p.Y467C	SDAD1_ENST00000513089.1_5'UTR|SDAD1_ENST00000395711.4_Missense_Mutation_p.Y430C	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	467					actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TAATTCTCCATATTCTTGTAC	0.348																																						ENST00000356260.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(1399-1401)tAt>tGt		SDA1 domain containing 1							122	110	114					4																	76881302		2203	4300	6503	SO:0001583	missense	55153				protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding	g.chr4:76881302T>C	AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.1400A>G	4.37:g.76881302T>C	ENSP00000348596:p.Tyr467Cys					SDAD1_ENST00000395711.4_Missense_Mutation_p.Y430C|SDAD1_ENST00000513089.1_5'UTR	p.Y467C	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		17	1518	-			467					Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Missense_Mutation	SNP	ENST00000356260.5	37	c.1400A>G	CCDS3573.2	.	.	.	.	.	.	.	.	.	.	T	22.6	4.309053	0.81247	.	.	ENSG00000198301	ENST00000356260;ENST00000395711	T;T	0.39406	1.08;1.08	5.68	5.68	0.88126	SDA1 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71187	0.3310	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.78398	-0.2219	10	0.87932	D	0	-13.5628	13.8874	0.63717	0.0:0.0:0.0:1.0	.	430;467	E7EW05;Q9NVU7	.;SDA1_HUMAN	C	467;430	ENSP00000348596:Y467C;ENSP00000379061:Y430C	ENSP00000348596:Y467C	Y	-	2	0	SDAD1	77100326	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.227000	0.78070	2.182000	0.69389	0.533000	0.62120	TAT		0.348	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252418.3	NM_018115		6	67	0	0	0	0.021553	0	6	67					C	76881302	T	C	76881302	3	2	76	1	0	0	0	0	1	0	0	0	13950	1406	49	3	687	3	SDAD1	4	76881302	Missense_Mutation	SNP	T	TCGA-DJ-A13U-01A-11D-A10S-08		76881302	114272974	5	1730											
TIGD4	201798	broad.mit.edu	37	chr4	153691793	153691793	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacttaaaatcattatggcCcagtttctgggcaaaatcat	7	9	3	0			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr4:153691793C>T	ENST00000304337.2	-	2	1184	c.364G>A	c.(364-366)Ggc>Agc	p.G122S		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	122	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					TCATTATGGCCCAGTTTCTGG	0.403																																						ENST00000304337.2																			0				breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(364-366)Ggc>Agc		tigger transposable element derived 4							88	87	87					4																	153691793		2203	4300	6503	SO:0001583	missense	201798				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding	g.chr4:153691793C>T	AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.364G>A	4.37:g.153691793C>T	ENSP00000355162:p.Gly122Ser						p.G122S	NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN			2	1184	-	all_hematologic(180;0.093)		122			HTH CENPB-type.		Q96LP5	Missense_Mutation	SNP	ENST00000304337.2	37	c.364G>A	CCDS34079.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358039	0.82243	.	.	ENSG00000169989	ENST00000304337	T	0.19532	2.14	6.17	6.17	0.99709	Homeodomain-related (1);Pogo transposase / Cenp-B / PDC2, DNA-binding HTH domain (3);Homeodomain-like (1);	0.000000	0.50627	D	0.000113	T	0.44912	0.1316	M	0.72576	2.205	0.53005	D	0.999961	D	0.60160	0.987	P	0.59357	0.856	T	0.03473	-1.1033	10	0.35671	T	0.21	-24.6648	20.4898	0.99202	0.0:1.0:0.0:0.0	.	122	Q8IY51	TIGD4_HUMAN	S	122	ENSP00000355162:G122S	ENSP00000355162:G122S	G	-	1	0	TIGD4	153911243	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.463000	0.66712	2.941000	0.99782	0.655000	0.94253	GGC		0.403	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365028.1	NM_145720		4	150	0	0	0	0.009096	0	4	150					T	153691793	C	T	153691793	3	4	76	1	0	0	0	0	1	0	0	0	15895	623	22	2	1178	2	TIGD4	4	153691793	Missense_Mutation	SNP	C	TCGA-DJ-A13U-01A-11D-A10S-08	76810491	153691793	37462483	6	1731											
AGA	175	broad.mit.edu	37	chr4	178359917	178359917	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctccaataatttggctgGcaattccgagcaagccaatc	7	13	0	0			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr4:178359917G>A	ENST00000264595.2	-	4	616	c.489C>T	c.(487-489)tgC>tgT	p.C163C	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	163			C -> S (in AGU; most frequent mutation; abolishes autocatalytic cleavage and enzyme activity; dbSNP:rs121964904). {ECO:0000269|PubMed:1703489, ECO:0000269|PubMed:1904874, ECO:0000269|PubMed:2011603}.		protein deglycosylation (GO:0006517)|protein maturation (GO:0051604)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity (GO:0003948)|peptidase activity (GO:0008233)			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		AATTTGGCTGGCAATTCCGAG	0.393																																						ENST00000264595.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16						c.(487-489)tgC>tgT		aspartylglucosaminidase							52	46	48					4																	178359917		2203	4300	6503	SO:0001819	synonymous_variant	175				asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	g.chr4:178359917G>A	X55330	CCDS3829.1	4q34.3	2014-06-23			ENSG00000038002	ENSG00000038002	3.5.1.26		318	protein-coding gene	gene with protein product	"glycosylasparaginase", "N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase"	613228					Standard	NM_000027		Approved	ASRG	uc003iuu.2	P20933	OTTHUMG00000160723	ENST00000264595.2:c.489C>T	4.37:g.178359917G>A						AGA_ENST00000506853.1_5'UTR	p.C163C	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)	4	616	-		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)	163		C -> S (in AGU; Finnish. Most frequent mutation; >98% of Finnish AGU alleles).			B2R7H2|D3DP47|Q4W5Q2|Q6FHN6|Q9UCK6|Q9UCK7|Q9UCK8	Silent	SNP	ENST00000264595.2	37	c.489C>T	CCDS3829.1	.	.	.	.	.	.	.	.	.	.	G	8.384	0.838282	0.16891	.	.	ENSG00000038002	ENST00000510635	.	.	.	5.65	2.62	0.31277	.	.	.	.	.	T	0.58921	0.2156	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54029	-0.8354	4	.	.	.	-27.9268	9.5832	0.39501	0.3216:0.0:0.6784:0.0	.	.	.	.	V	62	.	.	A	-	2	0	AGA	178596911	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.169000	0.31871	0.754000	0.32968	-0.794000	0.03295	GCC		0.393	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361916.1	NM_000027		3	31	0	0	0	0.115264	0	3	31					A	178359917	G	A	178359917	2	1	76	1	0	0	0	0	0	0	0	1	365	1195	42	2		2	AGA	4	178359917	Silent	SNP	G	TCGA-DJ-A13U-01A-11D-A10S-08	24668124	178359917	12794359	7	1732											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		35	53	0	0	0	0.092188	0	35	53					T	140453136	A	T	140453136	3	4	76	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A13U-01A-11D-A10S-08		140453136	18685527	8	1733											
EPHB6	2051	broad.mit.edu	37	chr7	142563827	142563827	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggacctgctcttcaatgtCgtgtgcaaggagtgtgaagg	16	7	2	1	rs201397299	byFrequency	TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr7:142563827C>T	ENST00000392957.2	+	9	2002	c.1215C>T	c.(1213-1215)gtC>gtT	p.V405V	EPHB6_ENST00000411471.2_Silent_p.V128V|EPHB6_ENST00000442129.1_Silent_p.V405V	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	405	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TCTTCAATGTCGTGTGCAAGG	0.637																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(1213-1215)gtC>gtT		EPH receptor B6		C		0,4404		0,0,2202	35	30	32		1215	-3.2	0.9	7		32	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	EPHB6	NM_004445.3		0,1,6500	TT,TC,CC		0.0116,0.0,0.0077		405/1022	142563827	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	0					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142563827C>T	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.1215C>T	7.37:g.142563827C>T						EPHB6_ENST00000411471.2_Silent_p.V128V|EPHB6_ENST00000442129.1_Silent_p.V405V	p.V405V	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			9	2002	+	Melanoma(164;0.059)		405			Fibronectin type-III 1.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	ENST00000392957.2	37	c.1215C>T	CCDS5873.2																																																																																				0.637	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			13	15	0	0	0	0.09319	0	13	15					T	142563827	C	T	142563827	2	4	76	1	0	0	0	0	0	0	0	1	5178	871	31	1		1	EPHB6	7	142563827	Silent	SNP	C	TCGA-DJ-A13U-01A-11D-A10S-08	2110691	142563827	16574836	9	1734											
RNF139	83940	broad.mit.edu	37	chr8	125499517	125499517	+	IGR	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagggagccgcttacaagaaAtaaatgatgtatgtgcaatc	10	6	0	2			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr8:125499517A>G	ENST00000276692.6	-	0	1018				RNF139_ENST00000303545.3_Missense_Mutation_p.I543V|RP11-158K1.3_ENST00000518639.1_RNA	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1						DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTTACAAGAAATAAATGATGT	0.378																																						ENST00000303545.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20						c.(1627-1629)Ata>Gta		ring finger protein 139							66	65	65					8																	125499517		2203	4300	6503	SO:0001628	intergenic_variant	11236				negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr8:125499517A>G	AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068		8.37:g.125499517A>G							p.I543V	NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		2	1999	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		543					B2R5J0|Q8TD02|Q9BY40	Missense_Mutation	SNP	ENST00000276692.6	37	c.1627A>G	CCDS6351.1	.	.	.	.	.	.	.	.	.	.	A	12.13	1.844868	0.32606	.	.	ENSG00000170881	ENST00000303545	T	0.67345	-0.26	5.5	5.5	0.81552	Zinc finger, RING-H2-type (1);	0.000000	0.85682	D	0.000000	T	0.52141	0.1716	N	0.20986	0.625	0.52501	D	0.999959	P	0.41597	0.756	B	0.38842	0.283	T	0.50915	-0.8771	10	0.17369	T	0.5	-18.2453	15.8921	0.79305	1.0:0.0:0.0:0.0	.	543	Q8WU17	RN139_HUMAN	V	543	ENSP00000304051:I543V	ENSP00000304051:I543V	I	+	1	0	RNF139	125568698	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.553000	0.67287	2.203000	0.70933	0.459000	0.35465	ATA		0.378	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026		31	56	0	0	0	0.134883	0	31	56					G	125499517	A	G	125499517	1	3	76	0	1	0	0	0	0	0	0	0	13442	101	4	3		3	RNF139	8	125499517	IGR	SNP	A	TCGA-DJ-A13U-01A-11D-A10S-08		125499517	20864505	10	1735											
CNTNAP3	79937	broad.mit.edu	37	chr9	39171422	39171422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagactcagtttgagcttgCcatccttaagaaagaggacg	11	8	1	4			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr9:39171422C>T	ENST00000297668.6	-	8	1350	c.1277G>A	c.(1276-1278)gGc>gAc	p.G426D	CNTNAP3_ENST00000377659.1_Missense_Mutation_p.G426D|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.G426D|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.G426D|CNTNAP3_ENST00000377653.2_5'Flank|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.G338D	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	426	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTTGAGCTTGCCATCCTTAAG	0.468																																						ENST00000297668.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24						c.(1276-1278)gGc>gAc		contactin associated protein-like 3							100	93	95					9																	39171422		2203	4300	6503	SO:0001583	missense	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39171422C>T	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.1277G>A	9.37:g.39171422C>T	ENSP00000297668:p.Gly426Asp					CNTNAP3_ENST00000377659.1_Missense_Mutation_p.G426D|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.G426D|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.G426D|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.G338D	p.G426D	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	8	1350	-			426			Laminin G-like 2.		B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	c.1277G>A	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.326006	0.60743	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659	D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33	3.28	3.28	0.37604	Concanavalin A-like lectin/glucanase (2);Concanavalin A-like lectin/glucanase, subgroup (2);Laminin G domain (4);Laminin G, subdomain 2 (2);	.	.	.	.	D	0.94192	0.8136	M	0.91561	3.22	0.34595	D	0.715918	D;D;D;D;D	0.89917	1.0;0.998;0.997;1.0;0.996	D;D;D;D;D	0.91635	0.999;0.991;0.965;0.998;0.964	D	0.96812	0.9597	9	0.52906	T	0.07	.	13.6393	0.62241	0.0:1.0:0.0:0.0	.	426;426;426;426;426	E2QRH2;Q96NU0;Q9BZ76-2;A6NC89;Q9BZ76	.;CNT3B_HUMAN;.;.;CNTP3_HUMAN	D	426;426;338;426;426	ENSP00000297668:G426D;ENSP00000366884:G426D;ENSP00000350863:G338D;ENSP00000320728:G426D;ENSP00000366887:G426D	ENSP00000297668:G426D	G	-	2	0	CNTNAP3	39161422	1.000000	0.71417	0.883000	0.34634	0.845000	0.48019	2.813000	0.48002	1.799000	0.52666	0.563000	0.77884	GGC		0.468	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		4	145	0	0	0	0.009096	0	4	145					T	39171422	C	T	39171422	3	4	76	1	0	0	0	0	1	0	0	0	3648	739	26	2	2657	2	CNTNAP3	9	39171422	Missense_Mutation	SNP	C	TCGA-DJ-A13U-01A-11D-A10S-08		39171422	102042009	11	1736											
ZFAND5	7763	broad.mit.edu	37	chr9	74975033	74975033	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgttcaatcttaccttgattTttcagatgtgctgccagcag	8	10	3	2			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr9:74975033T>G	ENST00000237937.3	-	3	813	c.256A>C	c.(256-258)Aaa>Caa	p.K86Q	ZFAND5_ENST00000376960.4_Missense_Mutation_p.K86Q|ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000376962.5_Missense_Mutation_p.K86Q|ZFAND5_ENST00000343431.2_Missense_Mutation_p.K86Q	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	86					face development (GO:0060324)|fibroblast migration (GO:0010761)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|respiratory system process (GO:0003016)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|kidney(2)|lung(2)|prostate(1)	6						TACCTTGATTTTTCAGATGTG	0.393																																						ENST00000237937.3																			0				cervix(1)|kidney(2)|lung(2)|prostate(1)	6						c.(256-258)Aaa>Caa		zinc finger, AN1-type domain 5							82	81	81					9																	74975033		2203	4299	6502	SO:0001583	missense	0						DNA binding|zinc ion binding	g.chr9:74975033T>G	AF062072	CCDS6642.1	9q13-q21	2008-05-02	2006-07-07	2006-07-07	ENSG00000107372	ENSG00000107372		"Zinc fingers, AN1-type domain containing"	13008	protein-coding gene	gene with protein product		604761	"zinc finger protein 216", "zinc finger, A20 domain containing 2"	ZNF216, ZA20D2		9758550	Standard	NM_001278243		Approved	ZFAND5A	uc004aiy.2	O76080	OTTHUMG00000020008	ENST00000237937.3:c.256A>C	9.37:g.74975033T>G	ENSP00000237937:p.Lys86Gln					ZFAND5_ENST00000343431.2_Missense_Mutation_p.K86Q|ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000376960.4_Missense_Mutation_p.K86Q|ZFAND5_ENST00000376962.5_Missense_Mutation_p.K86Q	p.K86Q	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN			3	813	-			86					A8K484	Missense_Mutation	SNP	ENST00000237937.3	37	c.256A>C	CCDS6642.1	.	.	.	.	.	.	.	.	.	.	T	12.16	1.854444	0.32791	.	.	ENSG00000107372	ENST00000237937;ENST00000376960;ENST00000376962;ENST00000343431;ENST00000376956	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	T	0.44603	0.1301	N	0.22421	0.69	0.47778	D	0.999516	B	0.16802	0.019	B	0.09377	0.004	T	0.31806	-0.9930	8	0.20046	T	0.44	-13.4937	16.5885	0.84745	0.0:0.0:0.0:1.0	.	86	O76080	ZFAN5_HUMAN	Q	86;86;86;86;138	.	ENSP00000237937:K86Q	K	-	1	0	ZFAND5	74164853	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.809000	0.75211	2.317000	0.78254	0.460000	0.39030	AAA		0.393	ZFAND5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052644.1			4	95	0	0	0	0.009096	0	4	95					G	74975033	T	G	74975033	3	3	76	1	0	0	0	0	1	0	0	0	17627	1850	64	5	401	5	ZFAND5	9	74975033	Missense_Mutation	SNP	T	TCGA-DJ-A13U-01A-11D-A10S-08	35803611	74975033	66238398	12	1737											
PPP3R2	116443	broad.mit.edu	37	chr9	104357184	104357184	+	Intron	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggagcacatctccgccgggTaactggcctcgtttcccatt	11	14	1	0			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr9:104357184T>A	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Missense_Mutation_p.Y10F	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)	CTCCGCCGGGTAACTGGCCTC	0.587																																						ENST00000374806.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(28-30)tAc>tTc		protein phosphatase 3, regulatory subunit B, beta	Cyclosporine(DB00091)						47	52	51					9																	104357184		2203	4300	6503	SO:0001627	intron_variant	5535						calcium ion binding	g.chr9:104357184T>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.2767-15542A>T	9.37:g.104357184T>A						GRIN3A_ENST00000361820.3_Intron	p.Y10F	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN			1	99	-		Acute lymphoblastic leukemia(62;0.0527)	7					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.29A>T	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	T	10.13	1.265376	0.23136	.	.	ENSG00000188386	ENST00000374806;ENST00000541976	T	0.68765	-0.35	3.94	2.75	0.32379	.	0.222627	0.23118	N	0.051738	T	0.36276	0.0961	N	0.03948	-0.315	0.33508	D	0.590826	B	0.02656	0.0	B	0.01281	0.0	T	0.34254	-0.9836	10	0.11794	T	0.64	-24.8004	8.0992	0.30846	0.1807:0.0:0.0:0.8193	.	7	Q96LZ3	CANB2_HUMAN	F	10	ENSP00000363939:Y10F	ENSP00000363939:Y10F	Y	-	2	0	PPP3R2	103397005	1.000000	0.71417	0.999000	0.59377	0.926000	0.56050	3.062000	0.49971	0.808000	0.34231	0.460000	0.39030	TAC		0.587	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			42	68	0	0	0	0.104719	0	42	68					A	104357184	T	A	104357184	1	1	76	0	1	0	0	0	0	0	0	0	12401	1638	57	5		5	PPP3R2	9	104357184	Intron	SNP	T	TCGA-DJ-A13U-01A-11D-A10S-08	29382151	104357184	36856247	13	1738											
COL27A1	85301	broad.mit.edu	37	chr9	117071596	117071596	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcacctgctaagctccgaGgtgacccagcacatcaccat	8	16	1	1			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr9:117071596G>A	ENST00000356083.3	+	60	5665	c.5274G>A	c.(5272-5274)gaG>gaA	p.E1758E		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1758	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TAAGCTCCGAGGTGACCCAGC	0.617																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(5272-5274)gaG>gaA		collagen, type XXVII, alpha 1							137	139	138					9																	117071596		2203	4300	6503	SO:0001819	synonymous_variant	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117071596G>A	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.5274G>A	9.37:g.117071596G>A							p.E1758E	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			60	5665	+			1758			Fibrillar collagen NC1.		Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	c.5274G>A	CCDS6802.1																																																																																				0.617	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		109	166	0	0	0	0.139131	0	109	166					A	117071596	G	A	117071596	2	1	76	1	0	0	0	0	0	0	0	1	3685	991	35	2		2	COL27A1	9	117071596	Silent	SNP	G	TCGA-DJ-A13U-01A-11D-A10S-08	12714412	117071596	24141835	14	1739											
PFKFB3	5209	broad.mit.edu	37	chr10	6268161	6268161	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgtcttgcttaggatgcaAagaagggacctaacccgctc	10	10	1	1			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr10:6268161A>G	ENST00000379775.4	+	14	1678	c.1348A>G	c.(1348-1350)Aag>Gag	p.K450E	PFKFB3_ENST00000379782.3_Missense_Mutation_p.K450E|PFKFB3_ENST00000379785.1_Missense_Mutation_p.K450E|PFKFB3_ENST00000360521.2_Missense_Mutation_p.K450E|PFKFB3_ENST00000317350.4_Missense_Mutation_p.K450E|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000540253.1_Missense_Mutation_p.K464E|PFKFB3_ENST00000379789.4_Missense_Mutation_p.K430E	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	450	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						TTAGGATGCAAAGAAGGGACC	0.483																																						ENST00000379775.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						c.(1348-1350)Aag>Gag		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3							102	115	111					10																	6268161		2203	4300	6503	SO:0001583	missense	5209				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chr10:6268161A>G		CCDS7078.1, CCDS44353.1, CCDS60479.1	10p15.1	2008-05-14			ENSG00000170525	ENSG00000170525			8874	protein-coding gene	gene with protein product		605319				9146922, 10072580	Standard	NM_004566		Approved		uc001ije.3	Q16875	OTTHUMG00000017621	ENST00000379775.4:c.1348A>G	10.37:g.6268161A>G	ENSP00000369100:p.Lys450Glu					PFKFB3_ENST00000379789.4_Missense_Mutation_p.K430E|PFKFB3_ENST00000317350.4_Missense_Mutation_p.K450E|PFKFB3_ENST00000360521.2_Missense_Mutation_p.K450E|PFKFB3_ENST00000379785.1_Missense_Mutation_p.K450E|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000379782.3_Missense_Mutation_p.K450E|PFKFB3_ENST00000540253.1_Missense_Mutation_p.K464E	p.K450E	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN			14	1678	+			450			Fructose-2,6-bisphosphatase.		B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Missense_Mutation	SNP	ENST00000379775.4	37	c.1348A>G	CCDS7078.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.48|17.48	3.400354|3.400354	0.62177|0.62177	.|.	.|.	ENSG00000170525|ENSG00000170525	ENST00000379789;ENST00000540253;ENST00000379781;ENST00000317350;ENST00000379785;ENST00000379782;ENST00000360521;ENST00000379775;ENST00000358499;ENST00000414237|ENST00000444592	.|.	.|.	.|.	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	0.053759|0.053759	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.63034|0.63034	0.2477|0.2477	L|L	0.55834|0.55834	1.745|1.745	0.58432|0.58432	D|D	0.999997|0.999997	B;P;B;P|.	0.49559|.	0.006;0.925;0.017;0.799|.	B;P;B;B|.	0.44561|.	0.005;0.453;0.005;0.162|.	T|T	0.58239|0.58239	-0.7671|-0.7671	9|7	0.07644|0.07813	T|T	0.81|0.8	0.2408|0.2408	15.1338|15.1338	0.72545|0.72545	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	464;450;450;430|.	B7Z955;Q16875-2;Q16875;Q5VX15|.	.;.;F263_HUMAN;.|.	E|R	430;464;44;450;450;450;450;450;450;19|83	.|.	ENSP00000369105:K450E|ENSP00000402055:K83R	K|K	+|+	1|2	0|0	PFKFB3|PFKFB3	6308167|6308167	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	8.300000|8.300000	0.89948|0.89948	1.978000|1.978000	0.57642|0.57642	0.528000|0.528000	0.53228|0.53228	AAG|AAA		0.483	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046647.1			4	154	0	0	0	0.021553	0	4	154					G	6268161	A	G	6268161	3	3	76	1	0	0	0	0	1	0	0	0	11762	15	1	3	1422	3	PFKFB3	10	6268161	Missense_Mutation	SNP	A	TCGA-DJ-A13U-01A-11D-A10S-08		6268161	129266586	15	1740											
OGDHL	55753	broad.mit.edu	37	chr10	50952733	50952733	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccagtgctttatatgcagAatctttttatccttggacct	6	9	1	1			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr10:50952733A>C	ENST00000374103.4	-	13	1780	c.1695T>G	c.(1693-1695)atT>atG	p.I565M	OGDHL_ENST00000419399.1_Missense_Mutation_p.I508M|OGDHL_ENST00000432695.1_Missense_Mutation_p.I356M	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	565					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TTATATGCAGAATCTTTTTAT	0.527																																						ENST00000374103.4																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						c.(1693-1695)atT>atG		oxoglutarate dehydrogenase-like							138	132	134					10																	50952733		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50952733A>C	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1695T>G	10.37:g.50952733A>C	ENSP00000363216:p.Ile565Met					OGDHL_ENST00000432695.1_Missense_Mutation_p.I356M|OGDHL_ENST00000419399.1_Missense_Mutation_p.I508M	p.I565M	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN			13	1780	-			565					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.1695T>G	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.272938	0.59649	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	D;D;D	0.95756	-3.8;-3.8;-3.8	5.6	1.03	0.20045	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.93785	0.8013	L	0.35414	1.06	0.49130	D	0.999757	P;P;P	0.51147	0.82;0.82;0.942	P;P;P	0.56343	0.693;0.62;0.796	D	0.90532	0.4496	10	0.40728	T	0.16	.	9.9538	0.41655	0.5623:0.0:0.4377:0.0	.	508;356;565	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	M	565;508;356	ENSP00000363216:I565M;ENSP00000401356:I508M;ENSP00000390240:I356M	ENSP00000363216:I565M	I	-	3	3	OGDHL	50622739	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	0.728000	0.26013	0.119000	0.18210	-0.128000	0.14901	ATT		0.527	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		5	109	0	0	0	0.021553	0	5	109					C	50952733	A	C	50952733	3	2	76	1	0	0	0	0	1	0	0	0	10840	242	9	5	1381	5	OGDHL	10	50952733	Missense_Mutation	SNP	A	TCGA-DJ-A13U-01A-11D-A10S-08	44684572	50952733	84582014	16	1741											
TSPAN15	23555	broad.mit.edu	37	chr10	71243586	71243586	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgttcatggtctccttcaTtggtgtgctggcgtccctcc	10	13	3	0	rs140708891	byFrequency	TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr10:71243586T>C	ENST00000373290.2	+	2	358	c.236T>C	c.(235-237)aTt>aCt	p.I79T		NM_012339.3	NP_036471.1	O95858	TSN15_HUMAN	tetraspanin 15	79					establishment of protein localization to plasma membrane (GO:0090002)|protein maturation (GO:0051604)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						GTCTCCTTCATTGGTGTGCTG	0.587																																						ENST00000373290.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						c.(235-237)aTt>aCt		tetraspanin 15		T	THR/ILE	1,4405	2.1+/-5.4	0,1,2202	181	132	149		236	5.8	0.8	10	dbSNP_134	149	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TSPAN15	NM_012339.3	89	0,2,6501	CC,CT,TT		0.0116,0.0227,0.0154	benign	79/295	71243586	2,13004	2203	4300	6503	SO:0001583	missense	23555					integral to plasma membrane|membrane fraction		g.chr10:71243586T>C	AY358934	CCDS7294.1	10q22.1	2013-02-14	2005-03-21	2005-03-21	ENSG00000099282	ENSG00000099282		"Tetraspanins"	23298	protein-coding gene	gene with protein product		613140	"transmembrane 4 superfamily member 15"	TM4SF15		11739647, 10719184	Standard	NM_012339		Approved	NET-7	uc001jpo.1	O95858	OTTHUMG00000018381	ENST00000373290.2:c.236T>C	10.37:g.71243586T>C	ENSP00000362387:p.Ile79Thr						p.I79T	NM_012339.3	NP_036471.1	O95858	TSN15_HUMAN			2	358	+			79					Q6UW79	Missense_Mutation	SNP	ENST00000373290.2	37	c.236T>C	CCDS7294.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.513579	0.85389	2.27E-4	1.16E-4	ENSG00000099282	ENST00000373290	T	0.79653	-1.29	5.81	5.81	0.92471	.	0.336350	0.31989	N	0.006758	T	0.77505	0.4140	L	0.31752	0.955	0.58432	D	0.999999	P	0.37038	0.579	P	0.45449	0.481	T	0.74293	-0.3712	10	0.23302	T	0.38	-5.1277	16.1403	0.81517	0.0:0.0:0.0:1.0	.	79	O95858	TSN15_HUMAN	T	79	ENSP00000362387:I79T	ENSP00000362387:I79T	I	+	2	0	TSPAN15	70913592	0.997000	0.39634	0.799000	0.32177	0.982000	0.71751	7.938000	0.87678	2.207000	0.71202	0.459000	0.35465	ATT		0.587	TSPAN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048444.1	NM_012339		4	96	0	0	0	0.014758	0	4	96					C	71243586	T	C	71243586	3	2	76	1	0	0	0	0	1	0	0	0	16636	1493	52	3	242	3	TSPAN15	10	71243586	Missense_Mutation	SNP	T	TCGA-DJ-A13U-01A-11D-A10S-08	20290853	71243586	64291161	17	1742											
TMED8	283578	broad.mit.edu	37	chr14	77812725	77812725	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggcctggtctgcaggcagCaaatcctgtttcaccaaggc	12	12	2	0			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr14:77812725C>A	ENST00000216468.7	-	3	349	c.294G>T	c.(292-294)ttG>ttT	p.L98F		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	98					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		CTGCAGGCAGCAAATCCTGTT	0.537																																						ENST00000216468.7																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15						c.(292-294)ttG>ttT		transmembrane emp24 protein transport domain containing 8							79	73	75					14																	77812725		2203	4300	6503	SO:0001583	missense	283578				transport	integral to membrane		g.chr14:77812725C>A	AK095650	CCDS32125.1	14q24.3	2005-08-26	2005-08-26	2005-01-07		ENSG00000100580			18633	protein-coding gene	gene with protein product			"family with sequence similarity 15, member B", "transmembrane emp24 domain containing 8"	FAM15B			Standard	NM_213601		Approved		uc001xto.1	Q6PL24		ENST00000216468.7:c.294G>T	14.37:g.77812725C>A	ENSP00000216468:p.Leu98Phe						p.L98F	NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	3	349	-			98					B3KTI6|Q3MJB0|Q9P1V9	Missense_Mutation	SNP	ENST00000216468.7	37	c.294G>T	CCDS32125.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.784617	0.31593	.	.	ENSG00000100580	ENST00000216468	T	0.24151	1.87	5.57	2.3	0.28687	.	1.894180	0.02245	N	0.066120	T	0.18341	0.0440	N	0.14661	0.345	0.09310	N	1	B	0.23735	0.09	B	0.25759	0.063	T	0.21895	-1.0232	10	0.41790	T	0.15	.	6.8403	0.23959	0.0:0.5709:0.1293:0.2998	.	98	Q6PL24	TMED8_HUMAN	F	98	ENSP00000216468:L98F	ENSP00000216468:L98F	L	-	3	2	TMED8	76882478	0.006000	0.16342	0.602000	0.28890	0.902000	0.53008	0.377000	0.20552	0.712000	0.32039	0.655000	0.94253	TTG		0.537	TMED8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414100.1	NM_213601		3	65	1	0	0.004672	0.115264	0.00517708	3	65					A	77812725	C	A	77812725	3	1	76	1	0	0	0	0	1	0	0	0	16008	709	25	4	698	4	TMED8	14	77812725	Missense_Mutation	SNP	C	TCGA-DJ-A13U-01A-11D-A10S-08		77812725	29536815	18	1743											
C16orf72	29035	broad.mit.edu	37	chr16	9197107	9197107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacccttccgggaagccataGctctgcatggtaaagccgtt	10	12	1	0			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr16:9197107G>A	ENST00000327827.7	+	3	971	c.574G>A	c.(574-576)Gct>Act	p.A192T	RP11-473I1.5_ENST00000565648.1_RNA|RP11-473I1.9_ENST00000574285.1_RNA	NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	192										endometrium(4)|large_intestine(2)|lung(2)	8						GGAAGCCATAGCTCTGCATGG	0.463																																						ENST00000327827.7																			0				endometrium(4)|large_intestine(2)|lung(2)	8						c.(574-576)Gct>Act		chromosome 16 open reading frame 72							49	49	49					16																	9197107		2197	4300	6497	SO:0001583	missense	29035							g.chr16:9197107G>A	AK123266	CCDS10538.1	16p13.2	2012-11-19			ENSG00000182831	ENSG00000182831			30103	protein-coding gene	gene with protein product						8889548	Standard	NM_014117		Approved	FLJ41272, PRO0149	uc002czm.3	Q14CZ0	OTTHUMG00000178147	ENST00000327827.7:c.574G>A	16.37:g.9197107G>A	ENSP00000331720:p.Ala192Thr						p.A192T	NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN			3	971	+			192						Missense_Mutation	SNP	ENST00000327827.7	37	c.574G>A	CCDS10538.1	.	.	.	.	.	.	.	.	.	.	G	35	5.546807	0.96488	.	.	ENSG00000182831	ENST00000327827	T	0.50277	0.75	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.72301	0.3443	M	0.77103	2.36	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	T	0.73091	-0.4092	10	0.87932	D	0	-17.9188	20.6721	0.99693	0.0:0.0:1.0:0.0	.	192	Q14CZ0	CP072_HUMAN	T	192	ENSP00000331720:A192T	ENSP00000331720:A192T	A	+	1	0	C16orf72	9104608	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.751000	0.98889	2.894000	0.99253	0.591000	0.81541	GCT		0.463	C16orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440760.2	NM_014117		5	53	0	0	0	0.021553	0	5	53					A	9197107	G	A	9197107	3	1	76	1	0	0	0	0	1	0	0	0	1831	971	34	2	584	2	C16orf72	16	9197107	Missense_Mutation	SNP	G	TCGA-DJ-A13U-01A-11D-A10S-08		9197107	81157646	19	1744											
TRAF4	9618	broad.mit.edu	37	chr17	27074944	27074944	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaggagggctgccgctggagTgggccactacgtcatctaca	15	11	2	0			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr17:27074944T>A	ENST00000262395.5	+	3	408	c.279T>A	c.(277-279)agT>agA	p.S93R	AC010761.9_ENST00000577325.1_RNA|AC010761.10_ENST00000579468.1_RNA|TRAF4_ENST00000444415.3_Missense_Mutation_p.S93R|TRAF4_ENST00000262396.6_Missense_Mutation_p.S93R	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	93					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein kinase activity (GO:0045860)|regulation of apoptotic process (GO:0042981)|respiratory gaseous exchange (GO:0007585)|respiratory tube development (GO:0030323)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	DNA binding (GO:0003677)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|WW domain binding (GO:0050699)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			GCCGCTGGAGTGGGCCACTAC	0.612																																						ENST00000262395.5																			0				endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(277-279)agT>agA		TNF receptor-associated factor 4							85	70	75					17																	27074944		2203	4300	6503	SO:0001583	missense	9618				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding	g.chr17:27074944T>A	X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604		"RING-type (C3HC4) zinc fingers"	12034	protein-coding gene	gene with protein product		602464				7592751, 7490069	Standard	NM_004295		Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.279T>A	17.37:g.27074944T>A	ENSP00000262395:p.Ser93Arg					TRAF4_ENST00000262396.6_Missense_Mutation_p.S93R|TRAF4_ENST00000444415.3_Missense_Mutation_p.S93R	p.S93R	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)		3	408	+	Lung NSC(42;0.01)		93					O75615|Q14848|Q2KJU4|Q2PJN8	Missense_Mutation	SNP	ENST00000262395.5	37	c.279T>A	CCDS11243.1	.	.	.	.	.	.	.	.	.	.	T	14.49	2.550526	0.45383	.	.	ENSG00000076604	ENST00000262395;ENST00000454852;ENST00000422344;ENST00000444415;ENST00000262396	T;T;T;T	0.32023	1.81;1.81;1.81;1.47	5.28	-4.2	0.03823	TRAF-like (1);Seven In Absentia Homolog-type (1);	0.237917	0.48767	D	0.000175	T	0.19927	0.0479	L	0.43923	1.385	0.30617	N	0.758934	B;B	0.23650	0.089;0.08	B;B	0.20384	0.02;0.029	T	0.07986	-1.0744	10	0.39692	T	0.17	.	9.5234	0.39149	0.0:0.5401:0.1282:0.3317	.	93;93	Q9BUZ4;Q9BUZ4-2	TRAF4_HUMAN;.	R	93;93;100;93;93	ENSP00000262395:S93R;ENSP00000415789:S100R;ENSP00000438154:S93R;ENSP00000262396:S93R	ENSP00000262395:S93R	S	+	3	2	TRAF4	24099071	0.000000	0.05858	0.932000	0.37286	0.841000	0.47740	-2.643000	0.00862	-0.644000	0.05465	0.454000	0.30748	AGT		0.612	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255944.2	NM_145751		25	28	0	0	0	0.0918	0	25	28					A	27074944	T	A	27074944	3	1	76	1	0	0	0	0	1	0	0	0	16440	1693	59	5	289	5	TRAF4	17	27074944	Missense_Mutation	SNP	T	TCGA-DJ-A13U-01A-11D-A10S-08		27074944	54120266	20	1745											
LILRB3	11025	broad.mit.edu	37	chr19	54722660	54722660	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caggcccctgtccttgggctCtgtctccgcagcccctgcag	11	18	2	0			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr19:54722660C>T	ENST00000391750.1	-	10	1610	c.1474G>A	c.(1474-1476)Gag>Aag	p.E492K	LILRB3_ENST00000424807.1_Missense_Mutation_p.E492K|LILRB3_ENST00000245620.9_Missense_Mutation_p.E492K|LILRA6_ENST00000419410.2_Missense_Mutation_p.E492K|LILRB3_ENST00000407860.2_Missense_Mutation_p.E509K|LILRA6_ENST00000440558.2_Missense_Mutation_p.E492K|LILRB3_ENST00000346401.6_Missense_Mutation_p.E504K|LILRA6_ENST00000270464.5_Missense_Mutation_p.E492K|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000469273.1_5'UTR			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	492					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCCTTGGGCTCTGTCTCCGCA	0.577																																						ENST00000391750.1																			0				endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34						c.(1474-1476)Gag>Aag		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3							112	114	114					19																	54722660		2203	4300	6503	SO:0001583	missense	11025				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	g.chr19:54722660C>T	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1474G>A	19.37:g.54722660C>T	ENSP00000375630:p.Glu492Lys					LILRA6_ENST00000270464.5_Missense_Mutation_p.E492K|LILRB3_ENST00000346401.6_Missense_Mutation_p.E504K|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000245620.9_Missense_Mutation_p.E492K|LILRB3_ENST00000469273.1_5'UTR|LILRB3_ENST00000407860.2_Missense_Mutation_p.E509K|LILRB3_ENST00000424807.1_Missense_Mutation_p.E492K|LILRA6_ENST00000440558.2_Missense_Mutation_p.E492K|LILRA6_ENST00000419410.2_Missense_Mutation_p.E492K	p.E492K			O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	10	1610	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		492					C9J1P3|C9JIP1|O15471|Q86U49	Missense_Mutation	SNP	ENST00000391750.1	37	c.1474G>A	CCDS33105.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.906476	0.33628	.	.	ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000244482;ENSG00000244482;ENSG00000244482	ENST00000391750;ENST00000424807;ENST00000346401;ENST00000245620;ENST00000407860;ENST00000440558;ENST00000270464;ENST00000419410	T;T;T;T;T;T;T;T	0.00493	7.04;7.04;7.0;7.05;7.1;7.04;7.01;7.03	2.95	0.629	0.17687	.	.	.	.	.	T	0.00724	0.0024	M	0.76328	2.33	0.09310	N	1	D;B;B;B;B;B;B	0.56968	0.978;0.39;0.255;0.149;0.34;0.23;0.042	P;B;B;B;B;B;B	0.51999	0.687;0.343;0.075;0.176;0.108;0.032;0.07	T	0.44877	-0.9299	9	0.13470	T	0.59	.	4.652	0.12599	0.0:0.6449:0.2237:0.1313	.	509;492;492;504;509;492;492	B5MCX0;F8WCY4;D3YTC4;F8W6G6;O75022-2;O75022;O75022-3	.;.;.;.;.;LIRB3_HUMAN;.	K	492;492;504;492;509;492;492;492	ENSP00000375630:E492K;ENSP00000412771:E492K;ENSP00000345184:E504K;ENSP00000245620:E492K;ENSP00000384274:E509K;ENSP00000390120:E492K;ENSP00000270464:E492K;ENSP00000411227:E492K	ENSP00000270464:E492K	E	-	1	0	LILRB3;LILRA6	59414472	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.159000	0.03150	0.274000	0.22072	0.447000	0.29281	GAG		0.577	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		4	113	0	0	0	0.009096	0	4	113					T	54722660	C	T	54722660	3	4	76	1	0	0	0	0	1	0	0	0	8792	922	32	2	444	2	LILRB3	19	54722660	Missense_Mutation	SNP	C	TCGA-DJ-A13U-01A-11D-A10S-08		54722660	4406323	21	1746											
NCAM2	4685	broad.mit.edu	37	chr21	22804492	22804492	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagaccacggccaaggtttcCttcaacaaaccggactccca	7	16	1	1			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr21:22804492C>A	ENST00000400546.1	+	12	1794	c.1545C>A	c.(1543-1545)tcC>tcA	p.S515S	NCAM2_ENST00000284894.7_Silent_p.S373S	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	515	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CCAAGGTTTCCTTCAACAAAC	0.453																																						ENST00000400546.1																			0				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108						c.(1543-1545)tcC>tcA		neural cell adhesion molecule 2							77	74	75					21																	22804492		1913	4135	6048	SO:0001819	synonymous_variant	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22804492C>A		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1545C>A	21.37:g.22804492C>A						NCAM2_ENST00000284894.7_Silent_p.S373S	p.S515S	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	12	1794	+		Lung NSC(9;0.195)	515			Fibronectin type-III 1.		A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	ENST00000400546.1	37	c.1545C>A	CCDS42910.1																																																																																				0.453	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		7	79	1	0	1.12685e-05	0.047766	1.32003e-05	7	79					A	22804492	C	A	22804492	2	1	76	1	0	0	0	0	0	0	0	1	10203	668	24	4		4	NCAM2	21	22804492	Silent	SNP	C	TCGA-DJ-A13U-01A-11D-A10S-08		22804492	25325403	22	1747											
TCN2	6948	broad.mit.edu	37	chr22	31008997	31008997	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggctggtctcacagctcaAatggttcctggaggatgaga	13	9	2	1			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr22:31008997A>G	ENST00000215838.3	+	3	889	c.395A>G	c.(394-396)aAa>aGa	p.K132R	TCN2_ENST00000407817.3_Intron|TCN2_ENST00000405742.3_Missense_Mutation_p.K128R			P20062	TCO2_HUMAN	transcobalamin II	132					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCACAGCTCAAATGGTTCCTG	0.582																																						ENST00000215838.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22						c.(394-396)aAa>aGa		transcobalamin II	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						56	51	53					22																	31008997		2203	4300	6503	SO:0001583	missense	6948				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding	g.chr22:31008997A>G		CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"macrocytic anemia"	613441	"transcobalamin II; macrocytic anemia"			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.395A>G	22.37:g.31008997A>G	ENSP00000215838:p.Lys132Arg					TCN2_ENST00000405742.3_Missense_Mutation_p.K128R|TCN2_ENST00000407817.3_Intron	p.K132R			P20062	TCO2_HUMAN			3	889	+			132					Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Missense_Mutation	SNP	ENST00000215838.3	37	c.395A>G	CCDS13881.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.273698	0.80580	.	.	ENSG00000185339	ENST00000215838;ENST00000405742	T;T	0.13778	2.56;2.56	5.41	5.41	0.78517	.	0.042833	0.85682	D	0.000000	T	0.32496	0.0831	M	0.62723	1.935	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.02220	-1.1193	10	0.29301	T	0.29	-28.4506	12.9695	0.58505	1.0:0.0:0.0:0.0	.	128;132	B5MBX2;P20062	.;TCO2_HUMAN	R	132;128	ENSP00000215838:K132R;ENSP00000385914:K128R	ENSP00000215838:K132R	K	+	2	0	TCN2	29338997	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.025000	0.64097	2.055000	0.61198	0.533000	0.62120	AAA		0.582	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321282.2	NM_000355		35	31	0	0	0	0.050027	0	35	31					G	31008997	A	G	31008997	3	3	76	1	0	0	0	0	1	0	0	0	15704	14	1	3	405	3	TCN2	22	31008997	Missense_Mutation	SNP	A	TCGA-DJ-A13U-01A-11D-A10S-08		31008997	20295569	23	1748											
RUSC1	23623	broad.mit.edu	37	chr1	155296548	155296548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcccacctcaggcccctgCccctccaggcccacctccag	9	23	1	0			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr1:155296548C>T	ENST00000368352.5	+	8	2190	c.2039C>T	c.(2038-2040)gCc>gTc	p.A680V	RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000292254.4_Missense_Mutation_p.A211V|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368347.4_Missense_Mutation_p.A270V|RUSC1_ENST00000368354.3_Intron|RUSC1_ENST00000368349.4_Missense_Mutation_p.A211V	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	680					positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CAGGCCCCTGCCCCTCCAGGC	0.652																																						ENST00000368352.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21						c.(2038-2040)gCc>gTc		RUN and SH3 domain containing 1							38	48	44					1																	155296548		2202	4296	6498	SO:0001583	missense	23623					cytoplasm|nucleolus	SH3/SH2 adaptor activity	g.chr1:155296548C>T	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.2039C>T	1.37:g.155296548C>T	ENSP00000357336:p.Ala680Val					RUSC1_ENST00000368347.4_Missense_Mutation_p.A270V|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368349.4_Missense_Mutation_p.A211V|RUSC1_ENST00000292254.4_Missense_Mutation_p.A211V|RUSC1_ENST00000368354.3_Intron	p.A680V	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		8	2190	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		680					B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	ENST00000368352.5	37	c.2039C>T	CCDS41410.1	.	.	.	.	.	.	.	.	.	.	C	4.345	0.063514	0.08388	.	.	ENSG00000160753	ENST00000368352;ENST00000368347;ENST00000368349;ENST00000292254	T;T;T;T	0.31510	1.83;1.49;1.53;1.53	4.27	1.21	0.21127	.	0.741699	0.11344	N	0.573720	T	0.08670	0.0215	L	0.51422	1.61	0.09310	N	1	B;B;B;B	0.26744	0.001;0.001;0.001;0.158	B;B;B;B	0.17433	0.001;0.003;0.001;0.018	T	0.30297	-0.9983	10	0.33940	T	0.23	-2.1655	3.9482	0.09358	0.1648:0.5473:0.0:0.2879	.	178;211;270;680	B4DQB8;Q9BVN2-2;Q5T9V0;Q9BVN2	.;.;.;RUSC1_HUMAN	V	680;270;211;211	ENSP00000357336:A680V;ENSP00000357331:A270V;ENSP00000357333:A211V;ENSP00000292254:A211V	ENSP00000292254:A211V	A	+	2	0	RUSC1	153563172	0.000000	0.05858	0.001000	0.08648	0.095000	0.18619	-0.493000	0.06459	0.146000	0.19002	0.591000	0.81541	GCC		0.652	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			4	119	0	0	0	0.014758	0	4	119					T	155296548	C	T	155296548	3	4	77	1	0	0	0	0	1	0	0	0	13750	739	26	2	2196	2	RUSC1	1	155296548	Missense_Mutation	SNP	C	TCGA-DJ-A13V-01A-11D-A10S-08		155296548	93954073	1	1749											
POU2F1	5451	broad.mit.edu	37	chr1	167334776	167334776	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcaatctcaacagcccaggCgcaggctttccttggacatc	9	14	1	0			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr1:167334776C>A	ENST00000541643.3	+	4	293	c.131C>A	c.(130-132)gCg>gAg	p.A44E	POU2F1_ENST00000429375.2_Missense_Mutation_p.A67E|POU2F1_ENST00000420254.3_Missense_Mutation_p.A44E|POU2F1_ENST00000452019.1_Missense_Mutation_p.A44E|POU2F1_ENST00000367862.5_Missense_Mutation_p.A56E|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367866.2_Missense_Mutation_p.A67E			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	44					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						ACAGCCCAGGCGCAGGCTTTC	0.483																																						ENST00000367862.5																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						c.(166-168)gCg>gAg		POU class 2 homeobox 1							71	70	70					1																	167334776		2203	4300	6503	SO:0001583	missense	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167334776C>A	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"Homeoboxes / POU class"	9212	protein-coding gene	gene with protein product		164175	"POU domain class 2, transcription factor 1"	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.131C>A	1.37:g.167334776C>A	ENSP00000441285:p.Ala44Glu					POU2F1_ENST00000541643.3_Missense_Mutation_p.A44E|POU2F1_ENST00000420254.3_Missense_Mutation_p.A44E|POU2F1_ENST00000367866.2_Missense_Mutation_p.A67E|POU2F1_ENST00000452019.1_Missense_Mutation_p.A44E|POU2F1_ENST00000429375.2_Missense_Mutation_p.A67E|POU2F1_ENST00000367865.1_3'UTR	p.A56E	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN			3	402	+			44					B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	ENST00000541643.3	37	c.167C>A		.	.	.	.	.	.	.	.	.	.	C	25.2	4.614244	0.87359	.	.	ENSG00000143190	ENST00000367866;ENST00000429375;ENST00000452019;ENST00000367865;ENST00000420254;ENST00000541643;ENST00000367862	T;T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	5.91	5.91	0.95273	.	0.129656	0.53938	D	0.000056	T	0.79839	0.4515	L	0.48642	1.525	0.58432	D	0.999995	P;P;D;P	0.56287	0.918;0.951;0.975;0.798	B;P;P;B	0.55055	0.353;0.555;0.767;0.353	T	0.80926	-0.1164	10	0.87932	D	0	.	20.3052	0.98627	0.0:1.0:0.0:0.0	.	67;56;42;44	B4E029;P14859-2;P14859-3;P14859	.;.;.;PO2F1_HUMAN	E	67;67;44;42;44;44;56	ENSP00000356840:A67E;ENSP00000401217:A67E;ENSP00000391523:A44E;ENSP00000356839:A42E;ENSP00000414660:A44E;ENSP00000441285:A44E;ENSP00000356836:A56E	ENSP00000356836:A56E	A	+	2	0	POU2F1	165601400	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.547000	0.73892	2.814000	0.96858	0.650000	0.86243	GCG		0.483	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		3	93	1	0	0.00909568	0.009096	0.0113696	3	93					A	167334776	C	A	167334776	3	1	77	1	0	0	0	0	1	0	0	0	12271	768	27	4	137	4	POU2F1	1	167334776	Missense_Mutation	SNP	C	TCGA-DJ-A13V-01A-11D-A10S-08	12038228	167334776	81915845	2	1750											
FEZF2	55079	broad.mit.edu	37	chr3	62355986	62355986	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttgtactgcttctcgccGctgtgggtcagcttgtggtt	12	10	2	0	rs528181161		TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr3:62355986G>A	ENST00000283268.3	-	5	1446	c.1152C>T	c.(1150-1152)agC>agT	p.S384S	FEZF2_ENST00000475839.1_Silent_p.S384S|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|FEZF2_ENST00000486811.1_Silent_p.S384S	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	384					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cerebral cortex GABAergic interneuron migration (GO:0021853)|dendrite development (GO:0016358)|dentate gyrus development (GO:0021542)|forebrain anterior/posterior pattern specification (GO:0021797)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		GCTTCTCGCCGCTGTGGGTCA	0.507													G|||	1	0.000199681	0	0.0014	5008	,	,		17169	0		0	False		,,,				2504	0				NSCLC(170;1772 2053 12525 15604 23984)	ENST00000283268.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20						c.(1150-1152)agC>agT		FEZ family zinc finger 2							244	226	232					3																	62355986		2203	4300	6503	SO:0001819	synonymous_variant	55079				transcription, DNA-dependent	nucleus	zinc ion binding	g.chr3:62355986G>A	AF064845	CCDS2897.1	3p21.1	2013-01-08	2006-08-15	2006-08-15	ENSG00000153266	ENSG00000153266		"Zinc fingers, C2H2-type"	13506	protein-coding gene	gene with protein product		607414	"zinc finger protein 312"	ZNF312			Standard	NM_018008		Approved	FLJ10142, FKSG36, TOF, FEZL, Zfp312	uc003dli.2	Q8TBJ5	OTTHUMG00000158705	ENST00000283268.3:c.1152C>T	3.37:g.62355986G>A						FEZF2_ENST00000486811.1_Silent_p.S384S|FEZF2_ENST00000475839.1_Silent_p.S384S	p.S384S	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)	5	1446	-		Lung SC(41;0.0262)	384					A8K349|Q9BZ91|Q9NWB9	Silent	SNP	ENST00000283268.3	37	c.1152C>T	CCDS2897.1																																																																																				0.507	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351813.1	NM_018008		4	175	0	0	0	0.009096	0	4	175					A	62355986	G	A	62355986	2	1	77	1	0	0	0	0	0	0	0	1	5826	1078	38	1		1	FEZF2	3	62355986	Silent	SNP	G	TCGA-DJ-A13V-01A-11D-A10S-08		62355986	135666444	3	1751											
DNAJC13	23317	broad.mit.edu	37	chr3	132196865	132196865	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttatcatcgcttcttgctcAccccaaaagtaaacatgaag	5	11	3	1			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr3:132196865A>C	ENST00000260818.6	+	24	2838	c.2590A>C	c.(2590-2592)Acc>Ccc	p.T864P		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	864					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CTTCTTGCTCACCCCAAAAGT	0.328																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(2590-2592)Acc>Ccc		DnaJ (Hsp40) homolog, subfamily C, member 13							78	80	79					3																	132196865		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132196865A>C	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.2590A>C	3.37:g.132196865A>C	ENSP00000260818:p.Thr864Pro						p.T864P	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			24	2838	+			864					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.2590A>C	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.391261	0.82902	.	.	ENSG00000138246	ENST00000260818	T	0.13420	2.59	5.41	5.41	0.78517	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.24624	0.0597	M	0.64997	1.995	0.80722	D	1	D	0.54964	0.969	P	0.50352	0.638	T	0.01021	-1.1478	10	0.35671	T	0.21	.	15.7331	0.77822	1.0:0.0:0.0:0.0	.	864	O75165	DJC13_HUMAN	P	864	ENSP00000260818:T864P	ENSP00000260818:T864P	T	+	1	0	DNAJC13	133679555	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	8.743000	0.91592	2.169000	0.68431	0.528000	0.53228	ACC		0.328	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		67	69	0	0	0	0.01441	0	67	69					C	132196865	A	C	132196865	3	2	77	1	0	0	0	0	1	0	0	0	4632	159	6	5	2680	5	DNAJC13	3	132196865	Missense_Mutation	SNP	A	TCGA-DJ-A13V-01A-11D-A10S-08	69840879	132196865	65825565	4	1752											
PLCH1	23007	broad.mit.edu	37	chr3	155314069	155314069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgccatcggaggcgtgtccGgtgctcatccaggtaaaaga	13	11	1	1			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr3:155314069G>A	ENST00000340059.7	-	2	141	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	PLCH1_ENST00000460012.1_Missense_Mutation_p.R30W|PLCH1_ENST00000414191.1_Missense_Mutation_p.R30W|PLCH1_ENST00000447496.2_Missense_Mutation_p.R48W|PLCH1_ENST00000334686.6_Missense_Mutation_p.R30W|PLCH1_ENST00000494598.1_Missense_Mutation_p.R48W	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	48	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGGCGTGTCCGGTGCTCATCC	0.488																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(88-90)Cgg>Tgg		phospholipase C, eta 1							166	162	163					3																	155314069		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155314069G>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.142C>T	3.37:g.155314069G>A	ENSP00000345988:p.Arg48Trp					PLCH1_ENST00000494598.1_Missense_Mutation_p.R48W|PLCH1_ENST00000414191.1_Missense_Mutation_p.R30W|PLCH1_ENST00000334686.6_Missense_Mutation_p.R30W|PLCH1_ENST00000340059.7_Missense_Mutation_p.R48W|PLCH1_ENST00000447496.2_Missense_Mutation_p.R48W	p.R30W			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		3	445	-			48			PH.		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.88C>T	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616595	0.66672	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07;-0.07	4.98	4.11	0.48088	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.131690	0.33161	N	0.005220	T	0.72787	0.3504	L	0.59436	1.845	0.54753	D	0.999986	D;D;D	0.89917	0.999;0.999;1.0	D;P;D	0.69479	0.944;0.88;0.964	T	0.72484	-0.4279	10	0.45353	T	0.12	.	12.1541	0.54066	0.0:0.0:0.5246:0.4754	.	30;48;48	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	W	48;30;48;48;30;30	ENSP00000419100:R48W;ENSP00000417502:R30W;ENSP00000402759:R48W;ENSP00000345988:R48W;ENSP00000335469:R30W;ENSP00000412977:R30W	ENSP00000335469:R30W	R	-	1	2	PLCH1	156796763	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	4.302000	0.59092	1.091000	0.41335	0.655000	0.94253	CGG		0.488	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		4	245	0	0	0	0.009096	0	4	245					A	155314069	G	A	155314069	3	1	77	1	0	0	0	0	1	0	0	0	12037	1115	39	1	5042	1	PLCH1	3	155314069	Missense_Mutation	SNP	G	TCGA-DJ-A13V-01A-11D-A10S-08	23117204	155314069	42708361	5	1753											
MCF2L2	23101	broad.mit.edu	37	chr3	182937644	182937644	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatatttaatattgagtacCttagccgagcctcctagttc	6	9	0	1			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr3:182937644C>T	ENST00000328913.3	-	21	2667	c.2370G>A	c.(2368-2370)aaG>aaA	p.K790K	MCF2L2_ENST00000473233.1_Splice_Site_p.K790K	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	790	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TATTGAGTACCTTAGCCGAGC	0.363																																						ENST00000328913.3																			0				breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.e21+1		MCF.2 cell line derived transforming sequence-like 2							61	62	62					3																	182937644		2203	4300	6503	SO:0001630	splice_region_variant	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:182937644C>T	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"Rho guanine nucleotide exchange factors"	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.2370+1G>A	3.37:g.182937644C>T						MCF2L2_ENST00000473233.1_Splice_Site_p.K790_splice	p.K790_splice	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		21	2667	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		790			DH.		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Splice_Site	SNP	ENST00000328913.3	37	c.2370_splice	CCDS3243.1																																																																																				0.363	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078	Silent	36	74	0	0	0	0.019004	0	36	74					T	182937644	C	T	182937644	5	4	77	1	0	0	0	0	0	0	1	0	9380	695	24	2	1014	2	MCF2L2	3	182937644	Splice_Site	SNP	C	TCGA-DJ-A13V-01A-11D-A10S-08	27623575	182937644	15084786	6	1754											
CDKL2	8999	broad.mit.edu	37	chr4	76522210	76522210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgtaagtgggggaattgCcacgcttggattccttgtgt	15	6	0	0			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr4:76522210C>T	ENST00000429927.2	-	9	1934	c.1231G>A	c.(1231-1233)Gca>Aca	p.A411T	CDKL2_ENST00000307465.4_Missense_Mutation_p.A411T	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	411			A -> V (in dbSNP:rs56231363). {ECO:0000269|PubMed:17344846}.		sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GGGGGAATTGCCACGCTTGGA	0.463																																						ENST00000429927.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22						c.(1231-1233)Gca>Aca		cyclin-dependent kinase-like 2 (CDC2-related kinase)							260	229	240					4																	76522210		2203	4300	6503	SO:0001583	missense	8999				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr4:76522210C>T	U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"Cyclin-dependent kinases"	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.1231G>A	4.37:g.76522210C>T	ENSP00000412365:p.Ala411Thr					CDKL2_ENST00000307465.4_Missense_Mutation_p.A411T	p.A411T	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		9	1934	-			411		A -> V (in dbSNP:rs56231363).			B2R695	Missense_Mutation	SNP	ENST00000429927.2	37	c.1231G>A	CCDS3570.1	.	.	.	.	.	.	.	.	.	.	C	3.155	-0.173447	0.06421	.	.	ENSG00000138769	ENST00000429927;ENST00000307465	T;T	0.69926	0.84;-0.44	4.74	3.85	0.44370	.	.	.	.	.	T	0.47544	0.1451	L	0.27053	0.805	0.09310	N	1	P;B	0.38922	0.651;0.036	B;B	0.33521	0.165;0.018	T	0.23691	-1.0181	9	0.10111	T	0.7	-6.4203	11.7076	0.51605	0.1755:0.8245:0.0:0.0	.	411;411	B4DH08;Q92772	.;CDKL2_HUMAN	T	411	ENSP00000412365:A411T;ENSP00000306340:A411T	ENSP00000306340:A411T	A	-	1	0	CDKL2	76741234	0.325000	0.24660	0.035000	0.18076	0.009000	0.06853	2.535000	0.45685	2.443000	0.82685	0.591000	0.81541	GCA		0.463	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948		5	222	0	0	0	0.014758	0	5	222					T	76522210	C	T	76522210	3	4	77	1	0	0	0	0	1	0	0	0	3154	739	26	2	262	2	CDKL2	4	76522210	Missense_Mutation	SNP	C	TCGA-DJ-A13V-01A-11D-A10S-08		76522210	114632066	7	1755											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		33	76	0	0	0	0.013726	0	33	76					T	140453136	A	T	140453136	3	4	77	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A13V-01A-11D-A10S-08		140453136	18685527	8	1756											
EPPK1	83481	broad.mit.edu	37	chr8	144945212	144945212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccacgtccacgggcacgCggtggctgtgcacggggtcg	18	13	0	0	rs574794307		TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr8:144945212C>T	ENST00000525985.1	-	2	2281	c.2210G>A	c.(2209-2211)cGc>cAc	p.R737H				P58107	EPIPL_HUMAN	epiplakin 1	737						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CACGGGCACGCGGTGGCTGTG	0.662													C|||	1	0.000199681	0	0	5008	,	,		28287	0		0	False		,,,				2504	0.001					ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2209-2211)cGc>cAc		epiplakin 1							71	76	74					8																	144945212		2026	4146	6172	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144945212C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.2210G>A	8.37:g.144945212C>T	ENSP00000436337:p.Arg737His						p.R737H			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	2281	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		737					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.2210G>A		.	.	.	.	.	.	.	.	.	.	C	28.0	4.879727	0.91740	.	.	ENSG00000227184	ENST00000525985	T	0.78924	-1.22	5.06	5.06	0.68205	.	.	.	.	.	D	0.89230	0.6656	M	0.88181	2.935	0.35373	D	0.789256	D	0.89917	1.0	D	0.70487	0.969	D	0.92769	0.6230	9	0.51188	T	0.08	.	15.9742	0.80049	0.0:1.0:0.0:0.0	.	737	E9PPU0	.	H	737	ENSP00000436337:R737H	ENSP00000436337:R737H	R	-	2	0	EPPK1	145017200	1.000000	0.71417	0.987000	0.45799	0.889000	0.51656	4.706000	0.61845	2.643000	0.89663	0.655000	0.94253	CGC		0.662	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		4	159	0	0	0	0.009096	0	4	159					T	144945212	C	T	144945212	3	4	77	1	0	0	0	0	1	0	0	0	5190	768	27	1	5056	1	EPPK1	8	144945212	Missense_Mutation	SNP	C	TCGA-DJ-A13V-01A-11D-A10S-08		144945212	1418810	9	1757											
SPTAN1	6709	broad.mit.edu	37	chr9	131339474	131339474	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggcctctgatgattttggCcgagacctggcaagtgttca	12	9	2	3			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr9:131339474C>T	ENST00000372731.4	+	7	962	c.852C>T	c.(850-852)ggC>ggT	p.G284G	SPTAN1_ENST00000372739.3_Silent_p.G284G|SPTAN1_ENST00000358161.5_Silent_p.G284G	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	284					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.G284G(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						ATGATTTTGGCCGAGACCTGG	0.483																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000372739.3																			1	Substitution - coding silent(1)	p.G284G(1)	prostate(1)	NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.(850-852)ggC>ggT		spectrin, alpha, non-erythrocytic 1							146	150	149					9																	131339474		2203	4300	6503	SO:0001819	synonymous_variant	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131339474C>T	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.852C>T	9.37:g.131339474C>T						SPTAN1_ENST00000372731.4_Silent_p.G284G|SPTAN1_ENST00000358161.5_Silent_p.G284G	p.G284G	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN			7	962	+			284					Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	ENST00000372731.4	37	c.852C>T	CCDS6905.1																																																																																				0.483	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		4	236	0	0	0	0.014758	0	4	236					T	131339474	C	T	131339474	2	4	77	1	0	0	0	0	0	0	0	1	15116	726	26	2		2	SPTAN1	9	131339474	Silent	SNP	C	TCGA-DJ-A13V-01A-11D-A10S-08		131339474	9873957	10	1758											
NUP214	8021	broad.mit.edu	37	chr9	134019854	134019854	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttgaagtcatctgctacGgtcactggggagcccccttc	10	13	4	1	rs147598578	byFrequency	TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr9:134019854G>A	ENST00000359428.5	+	12	1626	c.1482G>A	c.(1480-1482)acG>acA	p.T494T	NUP214_ENST00000451030.1_Silent_p.T494T|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|NUP214_ENST00000411637.2_Silent_p.T494T			P35658	NU214_HUMAN	nucleoporin 214kDa	494	11 X 5 AA approximate repeats.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CATCTGCTACGGTCACTGGGG	0.542			T	"DEK, SET, ABL1"	"AML, T-ALL"																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"DEK, SET, ABL1"		"AML, T-ALL"		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(1480-1482)acG>acA		nucleoporin 214kDa							168	172	170					9																	134019854		2203	4300	6503	SO:0001819	synonymous_variant	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134019854G>A	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"nuclear pore complex protein Nup214", "CAN protein, putative oncogene"	114350	"nucleoporin 214kD (CAIN)"			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.1482G>A	9.37:g.134019854G>A						RP11-544A12.4_ENST00000589540.1_RNA|NUP214_ENST00000411637.2_Silent_p.T494T|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|NUP214_ENST00000451030.1_Silent_p.T494T|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA	p.T494T			P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	12	1626	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	494			11 X 5 AA approximate repeats.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Silent	SNP	ENST00000359428.5	37	c.1482G>A	CCDS6940.1																																																																																				0.542	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		7	332	0	0	0	0.00308	0	7	332					A	134019854	G	A	134019854	2	1	77	1	0	0	0	0	0	0	0	1	10762	1103	39	1		1	NUP214	9	134019854	Silent	SNP	G	TCGA-DJ-A13V-01A-11D-A10S-08	2680380	134019854	7193577	11	1759											
CWF19L1	55280	broad.mit.edu	37	chr10	101992995	101992995	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccctttgttttagtcatccaGagtaaagtcatagggctcaa	8	9	3	1			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr10:101992995G>C	ENST00000354105.4	-	14	1692	c.1606C>G	c.(1606-1608)Ctg>Gtg	p.L536V	CWF19L1_ENST00000478047.1_5'UTR|CWF19L1_ENST00000370379.1_Missense_Mutation_p.L251V|RP11-316M21.6_ENST00000444359.1_RNA	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	536							catalytic activity (GO:0003824)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		TAGTCATCCAGAGTAAAGTCA	0.398																																						ENST00000354105.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17						c.(1606-1608)Ctg>Gtg		CWF19-like 1, cell cycle control (S. pombe)							89	97	94					10																	101992995		2203	4300	6503	SO:0001583	missense	55280						catalytic activity	g.chr10:101992995G>C	AK001860	CCDS7489.1	10q24.31	2008-11-24			ENSG00000095485	ENSG00000095485			25613	protein-coding gene	gene with protein product						14702039	Standard	NM_018294		Approved	FLJ10998	uc001kqq.1	Q69YN2	OTTHUMG00000018901	ENST00000354105.4:c.1606C>G	10.37:g.101992995G>C	ENSP00000326411:p.Leu536Val					CWF19L1_ENST00000370379.1_Missense_Mutation_p.L251V|CWF19L1_ENST00000478047.1_5'UTR|RP11-316M21.6_ENST00000444359.1_RNA	p.L536V	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)	14	1692	-		Colorectal(252;0.117)	536					B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13	Missense_Mutation	SNP	ENST00000354105.4	37	c.1606C>G	CCDS7489.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.477107	0.44044	.	.	ENSG00000095485	ENST00000354105;ENST00000370379	T;T	0.23950	2.16;1.88	5.53	2.57	0.30868	.	0.385282	0.26446	N	0.024323	T	0.19765	0.0475	L	0.41906	1.305	0.33987	D	0.648614	B;B;B	0.13594	0.008;0.001;0.003	B;B;B	0.16289	0.015;0.008;0.003	T	0.11966	-1.0566	10	0.45353	T	0.12	1.5978	8.9367	0.35704	0.0794:0.4438:0.4768:0.0	.	240;399;536	Q69YN2-2;Q69YN2-3;Q69YN2	.;.;C19L1_HUMAN	V	536;251	ENSP00000326411:L536V;ENSP00000359405:L251V	ENSP00000326411:L536V	L	-	1	2	CWF19L1	101982985	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	1.418000	0.34782	0.249000	0.21456	0.561000	0.74099	CTG		0.398	CWF19L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018294		3	150	0	0	0	0.004672	0	3	150					C	101992995	G	C	101992995	3	2	77	1	0	0	0	0	1	0	0	0	4071	933	33	4	14	4	CWF19L1	10	101992995	Missense_Mutation	SNP	G	TCGA-DJ-A13V-01A-11D-A10S-08		101992995	33541752	12	1760											
SLC18A2	6571	broad.mit.edu	37	chr10	119003687	119003687	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacagcacatggtgaccaaCgcgtccgctgttccttccga	9	15	0	1	rs150696989		TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr10:119003687C>T	ENST00000298472.5	+	3	470	c.327C>T	c.(325-327)aaC>aaT	p.N109N	RP11-501J20.5_ENST00000425264.1_RNA|SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	109					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TGGTGACCAACGCGTCCGCTG	0.517													C|||	1	0.000199681	0	0	5008	,	,		20650	0		0.001	False		,,,				2504	0					ENST00000298472.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29						c.(325-327)aaC>aaT		solute carrier family 18 (vesicular monoamine transporter), member 2	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)						115	99	104					10																	119003687		2203	4300	6503	SO:0001819	synonymous_variant	6571				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	g.chr10:119003687C>T	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"Solute carriers"	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.327C>T	10.37:g.119003687C>T						SLC18A2_ENST00000497497.1_3'UTR	p.N109N	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN		all cancers(201;0.029)	3	470	+		Colorectal(252;0.19)	109					B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Silent	SNP	ENST00000298472.5	37	c.327C>T	CCDS7599.1																																																																																				0.517	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054		4	150	0	0	0	0.014758	0	4	150					T	119003687	C	T	119003687	2	4	77	1	0	0	0	0	0	0	0	1	14426	535	19	1		1	SLC18A2	10	119003687	Silent	SNP	C	TCGA-DJ-A13V-01A-11D-A10S-08	17010692	119003687	16531060	13	1761											
TECTA	7007	broad.mit.edu	37	chr11	120989075	120989075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactgcaccgtcaagtgccGctgtctggatttcaacaatg	10	11	3	0			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr11:120989075G>A	ENST00000392793.1	+	7	1122	c.851G>A	c.(850-852)cGc>cAc	p.R284H	TECTA_ENST00000264037.2_Missense_Mutation_p.R284H			O75443	TECTA_HUMAN	tectorin alpha	284	VWFC.		R -> H (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.R284H(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GTCAAGTGCCGCTGTCTGGAT	0.507																																						ENST00000392793.1																		TECTA/TBCEL(2)	1	Substitution - Missense(1)	p.R284H(1)	breast(1)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(850-852)cGc>cAc		tectorin alpha							86	83	84					11																	120989075		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120989075G>A	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.851G>A	11.37:g.120989075G>A	ENSP00000376543:p.Arg284His					TECTA_ENST00000264037.2_Missense_Mutation_p.R284H	p.R284H			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	7	1122	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	284		R -> H (in a breast cancer sample; somatic mutation).	VWFC.			Missense_Mutation	SNP	ENST00000392793.1	37	c.851G>A	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.684232	0.88639	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.65549	-0.16;-0.16	5.68	5.68	0.88126	von Willebrand factor, type C (1);	0.000000	0.85682	D	0.000000	T	0.77698	0.4169	L	0.60845	1.875	0.45403	D	0.998384	D	0.89917	1.0	D	0.83275	0.996	T	0.76277	-0.3018	10	0.48119	T	0.1	.	19.7939	0.96471	0.0:0.0:1.0:0.0	.	284	O75443	TECTA_HUMAN	H	284	ENSP00000376543:R284H;ENSP00000264037:R284H	ENSP00000264037:R284H	R	+	2	0	TECTA	120494285	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.022000	0.88759	2.668000	0.90789	0.563000	0.77884	CGC		0.507	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		8	77	0	0	0	0.00308	0	8	77					A	120989075	G	A	120989075	3	1	77	1	0	0	0	0	1	0	0	0	15744	1087	38	1	873	1	TECTA	11	120989075	Missense_Mutation	SNP	G	TCGA-DJ-A13V-01A-11D-A10S-08		120989075	14017441	14	1762											
OR4K5	79317	broad.mit.edu	37	chr14	20388874	20388874	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttctctgtgttgtatacaGtcattgtgctgggaaatctt	9	7	4	0			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr14:20388874G>A	ENST00000315915.4	+	1	134	c.109G>A	c.(109-111)Gtc>Atc	p.V37I		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTTGTATACAGTCATTGTGCT	0.408																																						ENST00000315915.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(109-111)Gtc>Atc		olfactory receptor, family 4, subfamily K, member 5							200	208	205					14																	20388874		2203	4300	6503	SO:0001583	missense	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20388874G>A	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"GPCR / Class A : Olfactory receptors"	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.109G>A	14.37:g.20388874G>A	ENSP00000319511:p.Val37Ile						p.V37I	NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	134	+	all_cancers(95;0.00108)		37					Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	c.109G>A	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	4.795	0.147842	0.09134	.	.	ENSG00000176281	ENST00000315915	T	0.00578	6.44	4.41	-2.62	0.06152	.	0.835490	0.10156	N	0.708949	T	0.00356	0.0011	N	0.11892	0.195	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39702	-0.9601	10	0.37606	T	0.19	.	3.3541	0.07163	0.3386:0.0:0.2306:0.4308	.	37	Q8NGD3	OR4K5_HUMAN	I	37	ENSP00000319511:V37I	ENSP00000319511:V37I	V	+	1	0	OR4K5	19458714	0.000000	0.05858	0.000000	0.03702	0.231000	0.25187	-0.825000	0.04433	-0.129000	0.11620	0.655000	0.94253	GTC		0.408	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		5	227	0	0	0	0.02938	0	5	227					A	20388874	G	A	20388874	3	1	77	1	0	0	0	0	1	0	0	0	11073	1029	36	2	111	2	OR4K5	14	20388874	Missense_Mutation	SNP	G	TCGA-DJ-A13V-01A-11D-A10S-08		20388874	86960666	15	1763											
CDH8	1006	broad.mit.edu	37	chr16	62055204	62055204	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atccactcattaaaacttgaGactgattcatcggagccatg	7	10	2	2			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr16:62055204G>C	ENST00000577390.1	-	2	1058	c.104C>G	c.(103-105)tCt>tGt	p.S35C	CDH8_ENST00000584337.1_Missense_Mutation_p.S35C|CDH8_ENST00000299345.6_Missense_Mutation_p.S35C|CDH8_ENST00000577730.1_Missense_Mutation_p.S35C	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	35					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)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TAAAACTTGAGACTGATTCAT	0.438																																						ENST00000577390.1																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(103-105)tCt>tGt		cadherin 8, type 2							82	83	82					16																	62055204		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:62055204G>C	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.104C>G	16.37:g.62055204G>C	ENSP00000462701:p.Ser35Cys					CDH8_ENST00000299345.6_Missense_Mutation_p.S35C|CDH8_ENST00000584337.1_Missense_Mutation_p.S35C|CDH8_ENST00000577730.1_Missense_Mutation_p.S35C	p.S35C	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	2	1058	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	35					B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.104C>G	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548706	0.65311	.	.	ENSG00000150394	ENST00000299345	T	0.56611	0.45	6.17	6.17	0.99709	.	0.393126	0.29410	N	0.012237	T	0.57066	0.2028	L	0.55481	1.735	0.45946	D	0.99877	B	0.26876	0.162	B	0.32980	0.156	T	0.52056	-0.8626	10	0.52906	T	0.07	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	35	P55286	CADH8_HUMAN	C	35	ENSP00000299345:S35C	ENSP00000299345:S35C	S	-	2	0	CDH8	60612705	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	9.148000	0.94652	2.941000	0.99782	0.655000	0.94253	TCT		0.438	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		4	85	0	0	0	0.009096	0	4	85					C	62055204	G	C	62055204	3	2	77	1	0	0	0	0	1	0	0	0	3116	942	33	4	2339	4	CDH8	16	62055204	Missense_Mutation	SNP	G	TCGA-DJ-A13V-01A-11D-A10S-08		62055204	28299549	16	1764											
PITPNA	5306	broad.mit.edu	37	chr17	1437423	1437423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctcttcgtctcttcttcCatccttcgaatgtcgtccat	5	14	3	0			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr17:1437423C>T	ENST00000313486.7	-	10	993	c.738G>A	c.(736-738)atG>atA	p.M246I	PITPNA_ENST00000539476.1_Missense_Mutation_p.M246I	NM_006224.3	NP_006215.1	Q00169	PIPNA_HUMAN	phosphatidylinositol transfer protein, alpha	246					axon guidance (GO:0007411)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)|phosphatidylcholine transporter activity (GO:0008525)|phosphatidylinositol transporter activity (GO:0008526)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)		TCTCTTCTTCCATCCTTCGAA	0.483																																						ENST00000313486.7																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(736-738)atG>atA		phosphatidylinositol transfer protein, alpha							195	192	193					17																	1437423		1938	4154	6092	SO:0001583	missense	5306				axon guidance|lipid metabolic process|visual perception	cytoplasm	phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding	g.chr17:1437423C>T	M73704	CCDS45563.1	17p13.3	2012-06-29	2003-05-09	2004-09-03	ENSG00000174238	ENSG00000174238			9001	protein-coding gene	gene with protein product		600174	"phosphotidylinositol transfer protein"	PITPN		8255295	Standard	NM_006224		Approved	VIB1A	uc021tnf.1	Q00169	OTTHUMG00000177779	ENST00000313486.7:c.738G>A	17.37:g.1437423C>T	ENSP00000316809:p.Met246Ile					PITPNA_ENST00000539476.1_Missense_Mutation_p.M246I	p.M246I	NM_006224.3	NP_006215.1	Q00169	PIPNA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)	10	993	-			246						Missense_Mutation	SNP	ENST00000313486.7	37	c.738G>A	CCDS45563.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832016	0.50845	.	.	ENSG00000174238	ENST00000539476;ENST00000313486;ENST00000539870	T;T	0.42513	0.97;0.97	6.17	6.17	0.99709	START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.45458	0.1343	N	0.17872	0.535	0.80722	D	1	B;P	0.39352	0.001;0.669	B;P	0.54238	0.007;0.746	T	0.07849	-1.0751	10	0.09843	T	0.71	.	19.4432	0.94831	0.0:1.0:0.0:0.0	.	173;246	B4E1U1;Q00169	.;PIPNA_HUMAN	I	246;246;173	ENSP00000441869:M246I;ENSP00000316809:M246I	ENSP00000316809:M246I	M	-	3	0	PITPNA	1384173	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.756000	0.85195	2.941000	0.99782	0.655000	0.94253	ATG		0.483	PITPNA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438927.3			5	349	0	0	0	0.021553	0	5	349					T	1437423	C	T	1437423	3	4	77	1	0	0	0	0	1	0	0	0	11947	594	21	2	82	2	PITPNA	17	1437423	Missense_Mutation	SNP	C	TCGA-DJ-A13V-01A-11D-A10S-08		1437423	79757787	17	1765											
ALOXE3	59344	broad.mit.edu	37	chr17	8012504	8012504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgcacctctcaatggccGcccagatcttcaggccgtcg	9	18	3	1			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr17:8012504G>A	ENST00000448843.2	-	12	1890	c.1550C>T	c.(1549-1551)gCg>gTg	p.A517V	ALOXE3_ENST00000318227.3_Missense_Mutation_p.A649V|ALOXE3_ENST00000380149.1_Missense_Mutation_p.A673V	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	517	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						CTCAATGGCCGCCCAGATCTT	0.652																																						ENST00000380149.1																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						c.(2017-2019)gCg>gTg		arachidonate lipoxygenase 3							54	50	52					17																	8012504		2203	4300	6503	SO:0001583	missense	59344				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity	g.chr17:8012504G>A	AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"Arachidonate lipoxygenases"	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.1550C>T	17.37:g.8012504G>A	ENSP00000400581:p.Ala517Val					ALOXE3_ENST00000318227.3_Missense_Mutation_p.A649V|ALOXE3_ENST00000448843.2_Missense_Mutation_p.A517V	p.A673V			Q9BYJ1	LOXE3_HUMAN			11	2048	-			517			Lipoxygenase.		B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Missense_Mutation	SNP	ENST00000448843.2	37	c.2018C>T	CCDS11130.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.866687	0.32977	.	.	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	D;D;D	0.90133	-2.62;-2.62;-2.62	5.07	1.72	0.24424	Lipoxygenase, C-terminal (3);	0.590997	0.19378	N	0.115723	D	0.86916	0.6048	L	0.49126	1.545	0.09310	N	1	P;P;P	0.44309	0.832;0.657;0.657	P;B;B	0.44561	0.453;0.23;0.23	T	0.77640	-0.2512	10	0.42905	T	0.14	-8.5284	7.1872	0.25806	0.0741:0.2085:0.602:0.1153	.	649;517;517	B7Z3W0;Q9BYJ1;B3KVD2	.;LOXE3_HUMAN;.	V	673;649;517	ENSP00000369494:A673V;ENSP00000314879:A649V;ENSP00000400581:A517V	ENSP00000314879:A649V	A	-	2	0	ALOXE3	7953229	0.256000	0.24012	0.451000	0.26982	0.669000	0.39330	0.655000	0.24933	0.326000	0.23384	-1.134000	0.01955	GCG		0.652	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441475.1			38	38	0	0	0	0.036044	0	38	38					A	8012504	G	A	8012504	3	1	77	1	0	0	0	0	1	0	0	0	542	1087	38	1	605	1	ALOXE3	17	8012504	Missense_Mutation	SNP	G	TCGA-DJ-A13V-01A-11D-A10S-08	6575081	8012504	73182706	18	1766											
APBA3	9546	broad.mit.edu	37	chr19	3760113	3760113	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcttgactcatcaagttcCatccgactgaggctgccggg	12	12	2	2			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr19:3760113C>A	ENST00000316757.3	-	2	350	c.150G>T	c.(148-150)atG>atT	p.M50I	MRPL54_ENST00000330133.4_5'Flank	NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	50					in utero embryonic development (GO:0001701)|negative regulation of catalytic activity (GO:0043086)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCAAGTTCCATCCGACTGA	0.632																																						ENST00000316757.3																			0				endometrium(1)|large_intestine(1)|skin(1)	3						c.(148-150)atG>atT		amyloid beta (A4) precursor protein-binding, family A, member 3							53	56	55					19																	3760113		2203	4296	6499	SO:0001583	missense	9546				intracellular signal transduction|protein transport	intracellular|membrane	protein binding	g.chr19:3760113C>A	AB021638	CCDS12110.1	19p13.3	2008-07-18	2008-07-18			ENSG00000011132			580	protein-coding gene	gene with protein product	"X11-like 2"	604262				10049767	Standard	NM_004886		Approved	X11L2, mint3	uc002lyp.1	O96018		ENST00000316757.3:c.150G>T	19.37:g.3760113C>A	ENSP00000315136:p.Met50Ile						p.M50I	NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)	2	350	-		Hepatocellular(1079;0.137)	50					O60483|Q9UPZ2	Missense_Mutation	SNP	ENST00000316757.3	37	c.150G>T	CCDS12110.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107859	0.77096	.	.	ENSG00000011132	ENST00000316757	T	0.08896	3.04	4.73	4.73	0.59995	.	0.251314	0.28001	N	0.016992	T	0.08537	0.0212	L	0.32530	0.975	0.33129	D	0.542862	B	0.25667	0.131	B	0.21546	0.035	T	0.05517	-1.0880	10	0.72032	D	0.01	.	14.4235	0.67200	0.0:1.0:0.0:0.0	.	50	O96018	APBA3_HUMAN	I	50	ENSP00000315136:M50I	ENSP00000315136:M50I	M	-	3	0	APBA3	3711113	1.000000	0.71417	0.879000	0.34478	0.803000	0.45373	3.059000	0.49947	2.171000	0.68590	0.561000	0.74099	ATG		0.632	APBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453634.2			4	132	1	0	0.014758	0.014758	0.0178885	4	132					A	3760113	C	A	3760113	3	1	77	1	0	0	0	0	1	0	0	0	758	594	21	4	1617	4	APBA3	19	3760113	Missense_Mutation	SNP	C	TCGA-DJ-A13V-01A-11D-A10S-08		3760113	55368870	19	1767											
MUC16	94025	broad.mit.edu	37	chr19	8987282	8987282	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatgtccgccatgtagcgCaggttgttgatggtgaagtt	13	9	0	2	rs150582315		TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr19:8987282C>T	ENST00000397910.4	-	68	42008	c.41805G>A	c.(41803-41805)ctG>ctA	p.L13935L	MUC16_ENST00000380951.5_Silent_p.L576L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13960				Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCATGTAGCGCAGGTTGTTGA	0.597													c|||	1	0.000199681	0	0	5008	,	,		13301	0.001		0	False		,,,				2504	0					ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(41803-41805)ctG>ctA		mucin 16, cell surface associated							118	118	118					19																	8987282		2148	4262	6410	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8987282C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.41805G>A	19.37:g.8987282C>T						MUC16_ENST00000380951.5_Silent_p.L576L	p.L13935L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			68	42008	-			13960	Missing (in Ref. 3; AAK74120).				Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.41805G>A	CCDS54212.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	0.635	-0.815552	0.02776	.	.	ENSG00000181143	ENST00000542240	.	.	.	3.45	-0.292	0.12839	.	.	.	.	.	T	0.26448	0.0646	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29518	-1.0009	3	.	.	.	.	2.1927	0.03903	0.1975:0.4943:0.1925:0.1156	.	.	.	.	Y	775	.	.	C	-	2	0	MUC16	8848282	0.969000	0.33509	0.995000	0.50966	0.074000	0.17049	-0.173000	0.09854	0.054000	0.16065	0.460000	0.39030	TGC		0.597	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		13	47	0	0	0	0.016723	0	13	47					T	8987282	C	T	8987282	2	4	77	1	0	0	0	0	0	0	0	1	9973	697	25	2		2	MUC16	19	8987282	Silent	SNP	C	TCGA-DJ-A13V-01A-11D-A10S-08	5227169	8987282	50141701	20	1768											
NRIP1	8204	broad.mit.edu	37	chr21	16338129	16338129	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaaagtcttcggacactggTaaggcaggtgcgcttctctg	12	9	2	0			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr21:16338129T>C	ENST00000400202.1	-	3	3097	c.2385A>G	c.(2383-2385)ttA>ttG	p.L795L	NRIP1_ENST00000400199.1_Silent_p.L795L|AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000318948.4_Silent_p.L795L			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	795	Interaction with ZNF366.|Repression domain 3.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		CGGACACTGGTAAGGCAGGTG	0.448																																						ENST00000400202.1																			0				cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39						c.(2383-2385)ttA>ttG		nuclear receptor interacting protein 1							63	64	64					21																	16338129		2203	4299	6502	SO:0001819	synonymous_variant	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16338129T>C	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"receptor interacting protein 140", "nuclear factor RIP140"	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.2385A>G	21.37:g.16338129T>C						NRIP1_ENST00000400199.1_Silent_p.L795L|NRIP1_ENST00000318948.4_Silent_p.L795L	p.L795L			P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	3	3097	-			795			Repression domain 3.		Q8IWE8	Silent	SNP	ENST00000400202.1	37	c.2385A>G	CCDS13568.1																																																																																				0.448	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		5	91	0	0	0	0.02938	0	5	91					C	16338129	T	C	16338129	2	2	77	1	0	0	0	0	0	0	0	1	10652	1635	57	3		3	NRIP1	21	16338129	Silent	SNP	T	TCGA-DJ-A13V-01A-11D-A10S-08		16338129	31791766	21	1769											
KRTAP10-1	386677	broad.mit.edu	37	chr21	45959307	45959307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagacaggcatacagcaggCgggccggcatacagggcggc	18	11	0	1	rs372126563		TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr21:45959307C>T	ENST00000400375.1	-	1	771	c.727G>A	c.(727-729)Gcc>Acc	p.A243T	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	243	24 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						ATACAGCAGGCGGGCCGGCAT	0.706																																						ENST00000400375.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						c.(727-729)Gcc>Acc		keratin associated protein 10-1		C	,THR/ALA	0,4406		0,0,2203	59	68	65		,727	1.9	0.1	21		65	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	TSPEAR,KRTAP10-1	NM_144991.2,NM_198691.2	,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,benign	,243/283	45959307	1,13005	2203	4300	6503	SO:0001583	missense	386677					keratin filament		g.chr21:45959307C>T	AJ566380	CCDS42954.1	21q22.3	2007-10-05			ENSG00000215455	ENSG00000215455		"Keratin associated proteins"	22966	protein-coding gene	gene with protein product				KRTAP18-1			Standard	NM_198691		Approved	KAP10.1, KAP18.1	uc002zfh.1	P60331	OTTHUMG00000057627	ENST00000400375.1:c.727G>A	21.37:g.45959307C>T	ENSP00000383226:p.Ala243Thr					TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	p.A243T	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN			1	771	-			243			24 X 5 AA repeats of C-C-X(3).		Q0VAR0|Q0VAR1	Missense_Mutation	SNP	ENST00000400375.1	37	c.727G>A	CCDS42954.1	.	.	.	.	.	.	.	.	.	.	c	0.483	-0.878771	0.02550	0.0	1.16E-4	ENSG00000215455	ENST00000400375;ENST00000545982	T	0.01313	5.02	3.79	1.93	0.25924	.	.	.	.	.	T	0.00845	0.0028	N	0.04043	-0.29	0.09310	N	1	B	0.18863	0.031	B	0.12156	0.007	T	0.49293	-0.8955	9	0.34782	T	0.22	.	5.672	0.17728	0.1563:0.6479:0.0:0.1958	.	243	P60331	KR101_HUMAN	T	243	ENSP00000383226:A243T	ENSP00000383226:A243T	A	-	1	0	KRTAP10-1	44783735	0.000000	0.05858	0.080000	0.20451	0.002000	0.02628	-0.531000	0.06171	0.074000	0.16767	-1.094000	0.02160	GCC		0.706	KRTAP10-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128030.1			33	72	0	0	0	0.010818	0	33	72					T	45959307	C	T	45959307	3	4	77	1	0	0	0	0	1	0	0	0	8505	768	27	1	125	1	KRTAP10-1	21	45959307	Missense_Mutation	SNP	C	TCGA-DJ-A13V-01A-11D-A10S-08	29621178	45959307	2170588	22	1770											
FAM133A	286499	broad.mit.edu	37	chrX	92964801	92964801	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggatgaggaaaagaaacaagGaaaaaggagaaagaaaaaga	13	1	0	5			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chrX:92964801G>T	ENST00000355813.5	+	4	909	c.383G>T	c.(382-384)gGa>gTa	p.G128V	FAM133A_ENST00000332647.4_Missense_Mutation_p.G128V|FAM133A_ENST00000538690.1_Missense_Mutation_p.G128V|FAM133A_ENST00000322139.4_Missense_Mutation_p.G128V	NM_001171109.1|NM_173698.2	NP_001164580.1|NP_775969.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	128	Lys-rich.|Ser-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						AAGAAACAAGGAAAAAGGAGA	0.368																																						ENST00000538690.1																			0				breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						c.(382-384)gGa>gTa		family with sequence similarity 133, member A							20	18	19					X																	92964801		2195	4285	6480	SO:0001583	missense	286499							g.chrX:92964801G>T	AK094978	CCDS14466.1	Xq21.32	2010-05-04			ENSG00000179083	ENSG00000179083			26748	protein-coding gene	gene with protein product	"cancer/testis antigen 115"						Standard	NM_173698		Approved	RP1-32F7.2, FLJ37659, CT115	uc022bzv.1	Q8N9E0	OTTHUMG00000021975	ENST00000355813.5:c.383G>T	X.37:g.92964801G>T	ENSP00000348067:p.Gly128Val					FAM133A_ENST00000355813.5_Missense_Mutation_p.G128V|FAM133A_ENST00000322139.4_Missense_Mutation_p.G128V|FAM133A_ENST00000332647.4_Missense_Mutation_p.G128V	p.G128V	NM_001171110.1	NP_001164581.1	Q8N9E0	F133A_HUMAN			5	944	+			128			Lys-rich.|Ser-rich.			Missense_Mutation	SNP	ENST00000355813.5	37	c.383G>T	CCDS14466.1	.	.	.	.	.	.	.	.	.	.	g	9.530	1.110640	0.20714	.	.	ENSG00000179083	ENST00000538690;ENST00000355813;ENST00000322139;ENST00000332647	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	3.0	2.11	0.27256	.	0.475657	0.23426	N	0.048302	T	0.37128	0.0992	M	0.65975	2.015	0.35709	D	0.816211	B	0.11235	0.004	B	0.12837	0.008	T	0.38672	-0.9650	10	0.49607	T	0.09	-2.7748	6.5407	0.22378	0.0:0.0:0.7142:0.2858	.	128	Q8N9E0	F133A_HUMAN	V	128	ENSP00000441389:G128V;ENSP00000348067:G128V;ENSP00000318974:G128V;ENSP00000362169:G128V	ENSP00000318974:G128V	G	+	2	0	FAM133A	92851457	0.821000	0.29204	0.655000	0.29622	0.829000	0.46940	1.030000	0.30153	0.643000	0.30638	0.597000	0.82753	GGA		0.368	FAM133A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057452.1	NM_173698		6	19	1	0	0.0215528	0.021553	0.0253562	6	19					T	92964801	G	T	92964801	3	4	77	1	0	0	0	0	1	0	0	0	5443	1174	41	4	385	4	FAM133A	23	92964801	Missense_Mutation	SNP	G	TCGA-DJ-A13V-01A-11D-A10S-08		92964801	62305759	23	1771											
CLCC1	23155	broad.mit.edu	37	chr1	109492526	109492526	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggactgacatccttttccccTgaaataccatattttgccta	5	12	0	2			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr1:109492526T>C	ENST00000369971.2	-	3	276	c.147A>G	c.(145-147)tcA>tcG	p.S49S	AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000348264.2_Silent_p.S49S|CLCC1_ENST00000369969.2_Silent_p.S49S|CLCC1_ENST00000369970.3_Silent_p.S49S|CLCC1_ENST00000415331.1_Silent_p.S49S|CLCC1_ENST00000369968.2_Silent_p.S49S|CLCC1_ENST00000302500.4_Silent_p.S49S|CLCC1_ENST00000356970.2_Silent_p.S49S|CLCC1_ENST00000369976.1_Silent_p.S49S	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	49						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		CCTTTTCCCCTGAAATACCAT	0.294																																						ENST00000369971.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14						c.(145-147)tcA>tcG		chloride channel CLIC-like 1							56	57	57					1																	109492526		2203	4290	6493	SO:0001819	synonymous_variant	23155					endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus		g.chr1:109492526T>C	AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"Mid1-related chloride channel (yeast)"					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.147A>G	1.37:g.109492526T>C						CLCC1_ENST00000369970.3_Silent_p.S49S|CLCC1_ENST00000415331.1_Silent_p.S49S|CLCC1_ENST00000356970.2_Silent_p.S49S|CLCC1_ENST00000369969.2_Silent_p.S49S|CLCC1_ENST00000348264.2_Silent_p.S49S|CLCC1_ENST00000302500.4_Silent_p.S49S|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369976.1_Silent_p.S49S|CLCC1_ENST00000369968.2_Silent_p.S49S	p.S49S	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)	3	276	-		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)	49					O94861|Q8WYP8|Q8WYP9|Q9BU25	Silent	SNP	ENST00000369971.2	37	c.147A>G	CCDS41362.1																																																																																				0.294	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032405.1	NM_015127		4	89	0	0	0	0.150653	0	4	89					C	109492526	T	C	109492526	2	2	78	1	0	0	0	0	0	0	0	1	3460	1567	55	3		3	CLCC1	1	109492526	Silent	SNP	T	TCGA-DJ-A13W-01A-11D-A10S-08		109492526	139758095	1	1772											
ATP8B2	57198	broad.mit.edu	37	chr1	154318750	154318750	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagtaccctaagctgtatgAgccgggccagctgaaccttc	12	12	0	2			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr1:154318750A>G	ENST00000368489.3	+	25	2921	c.2921A>G	c.(2920-2922)gAg>gGg	p.E974G		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	960					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	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)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AAGCTGTATGAGCCGGGCCAG	0.572																																						ENST00000368489.3																		IL6R/ATP8B2(2)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(2920-2922)gAg>gGg		ATPase, aminophospholipid transporter, class I, type 8B, member 2							92	89	90					1																	154318750		2203	4300	6503	SO:0001583	missense	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154318750A>G	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"ATPases / P-type"	13534	protein-coding gene	gene with protein product		605867	"ATPase, class I, type 8B, member 2"			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.2921A>G	1.37:g.154318750A>G	ENSP00000357475:p.Glu974Gly						p.E974G	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		25	2921	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		960					B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	c.2921A>G	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	A	14.07	2.426838	0.43020	.	.	ENSG00000143515	ENST00000368489	D	0.88431	-2.38	4.34	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.75177	0.3814	L	0.41415	1.275	0.80722	D	1	B	0.11235	0.004	B	0.14578	0.011	T	0.72181	-0.4368	10	0.25106	T	0.35	.	12.4858	0.55872	1.0:0.0:0.0:0.0	.	974	P98198-3	.	G	974	ENSP00000357475:E974G	ENSP00000357475:E974G	E	+	2	0	ATP8B2	152585374	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.062000	0.71155	1.794000	0.52575	0.459000	0.35465	GAG		0.572	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		3	172	0	0	0	0.150653	0	3	172					G	154318750	A	G	154318750	3	3	78	1	0	0	0	0	1	0	0	0	1195	304	11	3	3149	3	ATP8B2	1	154318750	Missense_Mutation	SNP	A	TCGA-DJ-A13W-01A-11D-A10S-08	44826224	154318750	94931871	2	1773											
RAB25	57111	broad.mit.edu	37	chr1	156038145	156038145	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtggagcgatggctgaaGgagctctatgaccatgctga	16	7	1	3			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr1:156038145G>A	ENST00000361084.5	+	3	565	c.324G>A	c.(322-324)aaG>aaA	p.K108K	RAB25_ENST00000487325.1_3'UTR	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family	108					positive regulation of cell proliferation (GO:0008284)|protein transport (GO:0015031)|pseudopodium organization (GO:0031268)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					GATGGCTGAAGGAGCTCTATG	0.582																																						ENST00000361084.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						c.(322-324)aaG>aaA		RAB25, member RAS oncogene family							106	109	108					1																	156038145		2155	4271	6426	SO:0001819	synonymous_variant	57111				positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding	g.chr1:156038145G>A	AF083124	CCDS41413.1	1q22	2008-07-03			ENSG00000132698	ENSG00000132698		"RAB, member RAS oncogene"	18238	protein-coding gene	gene with protein product		612942				11697911	Standard	NM_020387		Approved	CATX-8	uc001fnc.3	P57735	OTTHUMG00000017457	ENST00000361084.5:c.324G>A	1.37:g.156038145G>A						RAB25_ENST00000487325.1_3'UTR	p.K108K	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN			3	565	+	Hepatocellular(266;0.158)|all_neural(408;0.195)		108					Q5VYA2|Q8NG24|Q96GB1|Q9BT12	Silent	SNP	ENST00000361084.5	37	c.324G>A	CCDS41413.1																																																																																				0.582	RAB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046185.1			5	211	0	0	0	0.184627	0	5	211					A	156038145	G	A	156038145	2	1	78	1	0	0	0	0	0	0	0	1	12912	991	35	2		2	RAB25	1	156038145	Silent	SNP	G	TCGA-DJ-A13W-01A-11D-A10S-08	1719395	156038145	93212476	3	1774											
SCYL3	57147	broad.mit.edu	37	chr1	169857896	169857896	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atttgccatcttgcagtacaGcgggataaacagcaagtcca	9	10	1	0			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr1:169857896G>T	ENST00000367770.1	-	1	133	c.86C>A	c.(85-87)gCt>gAt	p.A29D	SCYL3_ENST00000367771.6_Missense_Mutation_p.A29D|SCYL3_ENST00000367772.4_Missense_Mutation_p.A29D|SCYL3_ENST00000470238.1_5'UTR			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	29	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTGCAGTACAGCGGGATAAAC	0.418																																						ENST00000367772.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(85-87)gCt>gAt		SCY1-like 3 (S. cerevisiae)							190	176	181					1																	169857896		2203	4300	6503	SO:0001583	missense	57147				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	g.chr1:169857896G>T	BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"ezrin-binding partner PACE-1"	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.86C>A	1.37:g.169857896G>T	ENSP00000356744:p.Ala29Asp					SCYL3_ENST00000367771.5_Missense_Mutation_p.A29D|SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367770.1_Missense_Mutation_p.A29D	p.A29D	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN			2	283	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		29			Protein kinase.		A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Missense_Mutation	SNP	ENST00000367770.1	37	c.86C>A	CCDS1287.1	.	.	.	.	.	.	.	.	.	.	G	32	5.126210	0.94429	.	.	ENSG00000000457	ENST00000367772;ENST00000367771;ENST00000367770;ENST00000423670	T;T;T;T	0.30448	1.53;2.15;1.53;2.07	5.28	5.28	0.74379	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.051561	0.85682	D	0.000000	T	0.51449	0.1675	M	0.78456	2.415	0.80722	D	1	D;D	0.71674	0.99;0.998	D;D	0.75484	0.947;0.986	T	0.51100	-0.8748	9	.	.	.	-12.1116	18.8736	0.92325	0.0:0.0:1.0:0.0	.	29;29	Q8IZE3-2;Q8IZE3	.;PACE1_HUMAN	D	29	ENSP00000356746:A29D;ENSP00000356745:A29D;ENSP00000356744:A29D;ENSP00000407993:A29D	.	A	-	2	0	SCYL3	168124520	1.000000	0.71417	0.116000	0.21606	0.985000	0.73830	9.130000	0.94437	2.623000	0.88846	0.655000	0.94253	GCT		0.418	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4	NM_181093		4	112	1	0	0.000602214	0.184627	0.000699346	4	112					T	169857896	G	T	169857896	3	4	78	1	0	0	0	0	1	0	0	0	13949	971	34	4	2194	4	SCYL3	1	169857896	Missense_Mutation	SNP	G	TCGA-DJ-A13W-01A-11D-A10S-08	13819751	169857896	79392725	4	1775											
OR2L3	391192	broad.mit.edu	37	chr1	248224344	248224344	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggcatctatggcctatgatCgttacattgctatttgcttt	8	8	1	1	rs202209437		TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr1:248224344C>T	ENST00000359959.3	+	1	361	c.361C>T	c.(361-363)Cgt>Tgt	p.R121C	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GGCCTATGATCGTTACATTGC	0.443																																						ENST00000359959.3																			0				cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41						c.(361-363)Cgt>Tgt		olfactory receptor, family 2, subfamily L, member 3							265	269	268					1																	248224344		2203	4300	6503	SO:0001583	missense	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224344C>T	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"GPCR / Class A : Olfactory receptors"	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.361C>T	1.37:g.248224344C>T	ENSP00000353044:p.Arg121Cys					OR2L13_ENST00000366478.2_Intron	p.R121C	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	361	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		121					B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	c.361C>T	CCDS31104.1	.	.	.	.	.	.	.	.	.	.	.	9.444	1.088746	0.20390	.	.	ENSG00000198128	ENST00000359959	T	0.77358	-1.09	1.91	0.938	0.19500	GPCR, rhodopsin-like superfamily (1);	0.540487	0.13896	N	0.355267	T	0.74711	0.3752	M	0.79614	2.46	0.41081	D	0.985523	B	0.22983	0.078	B	0.20184	0.028	T	0.69614	-0.5098	10	0.66056	D	0.02	.	7.9507	0.30012	0.0:0.8623:0.0:0.1377	.	121	Q8NG85	OR2L3_HUMAN	C	121	ENSP00000353044:R121C	ENSP00000353044:R121C	R	+	1	0	OR2L3	246290967	0.003000	0.15002	0.008000	0.14137	0.005000	0.04900	-0.032000	0.12266	0.121000	0.18284	-0.379000	0.06801	CGT		0.443	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		136	182	0	0	0	0.870114	0	136	182					T	248224344	C	T	248224344	3	4	78	1	0	0	0	0	1	0	0	0	11008	884	31	1	363	1	OR2L3	1	248224344	Missense_Mutation	SNP	C	TCGA-DJ-A13W-01A-11D-A10S-08	78366448	248224344	1026277	5	1776											
TNS1	7145	broad.mit.edu	37	chr2	218696243	218696243	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggcccagagcagacaggggtGtcttggccagacccgggggg	19	11	1	3			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr2:218696243G>C	ENST00000171887.4	-	20	3385	c.2933C>G	c.(2932-2934)aCa>aGa	p.T978R	TNS1_ENST00000419504.1_Missense_Mutation_p.T978R|TNS1_ENST00000430930.1_Missense_Mutation_p.T978R	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	978					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AGACAGGGGTGTCTTGGCCAG	0.652																																						ENST00000171887.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(2932-2934)aCa>aGa		tensin 1							37	36	36					2																	218696243		2203	4299	6502	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218696243G>C	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.2933C>G	2.37:g.218696243G>C	ENSP00000171887:p.Thr978Arg					TNS1_ENST00000419504.1_Missense_Mutation_p.T978R|TNS1_ENST00000430930.1_Missense_Mutation_p.T978R	p.T978R	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	20	3385	-		Renal(207;0.0483)|Lung NSC(271;0.213)	978					Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.2933C>G	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.330953	0.81690	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	D;T;D;D	0.93712	-3.12;1.66;-3.27;-3.19	5.02	5.02	0.67125	.	0.724631	0.11103	U	0.599381	D	0.95348	0.8490	L	0.36672	1.1	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.85130	0.997;0.996;0.961	D	0.94282	0.7521	10	0.72032	D	0.01	.	18.1161	0.89555	0.0:0.0:1.0:0.0	.	978;978;978	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	R	978;137;978;978	ENSP00000171887:T978R;ENSP00000394171:T137R;ENSP00000408724:T978R;ENSP00000406016:T978R	ENSP00000171887:T978R	T	-	2	0	TNS1	218404488	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	8.437000	0.90302	2.593000	0.87608	0.561000	0.74099	ACA		0.652	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		8	14	0	0	0	0.335167	0	8	14					C	218696243	G	C	218696243	3	2	78	1	0	0	0	0	1	0	0	0	16340	1377	48	4	2330	4	TNS1	2	218696243	Missense_Mutation	SNP	G	TCGA-DJ-A13W-01A-11D-A10S-08		218696243	24503130	6	1777											
ABI3BP	25890	broad.mit.edu	37	chr3	100567712	100567712	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagggatagatgtagtttgCtggggagctgaaagaagatt	16	2	0	4			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr3:100567712C>T	ENST00000284322.5	-	16	1492	c.1383G>A	c.(1381-1383)caG>caA	p.Q461Q	ABI3BP_ENST00000471714.1_Silent_p.Q510Q|ABI3BP_ENST00000495063.1_Silent_p.Q510Q|ABI3BP_ENST00000383691.4_5'Flank	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	461	Pro-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						ATGTAGTTTGCTGGGGAGCTG	0.398																																						ENST00000471714.1																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(1528-1530)caG>caA		ABI family, member 3 (NESH) binding protein							140	137	138					3																	100567712		1816	4082	5898	SO:0001819	synonymous_variant	25890					extracellular space		g.chr3:100567712C>T	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"Fibronectin type III domain containing"	17265	protein-coding gene	gene with protein product	"target of Nesh-SH3"	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1383G>A	3.37:g.100567712C>T						ABI3BP_ENST00000284322.5_Silent_p.Q461Q|ABI3BP_ENST00000495063.1_Silent_p.Q510Q	p.Q510Q			Q7Z7G0	TARSH_HUMAN			18	1639	-			461			Pro-rich.		B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Silent	SNP	ENST00000284322.5	37	c.1530G>A	CCDS46880.1	.	.	.	.	.	.	.	.	.	.	C	6.943	0.543762	0.13312	.	.	ENSG00000154175	ENST00000533855	.	.	.	5.75	1.94	0.25998	.	.	.	.	.	T	0.36358	0.0964	.	.	.	0.21290	N	0.999736	.	.	.	.	.	.	T	0.24297	-1.0164	4	.	.	.	0.6235	9.813	0.40835	0.0:0.6452:0.0:0.3548	.	.	.	.	N	139	.	.	S	-	2	0	ABI3BP	102050402	0.018000	0.18449	0.955000	0.39395	0.970000	0.65996	0.070000	0.14573	0.454000	0.26884	-0.145000	0.13849	AGC		0.398	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			3	75	0	0	0	0.150653	0	3	75					T	100567712	C	T	100567712	2	4	78	1	0	0	0	0	0	0	0	1	91	796	28	2		2	ABI3BP	3	100567712	Silent	SNP	C	TCGA-DJ-A13W-01A-11D-A10S-08		100567712	97454718	7	1778											
EPHB1	2047	broad.mit.edu	37	chr3	134670486	134670486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccttctggtctgaggccCcctacctcaaagtagacacc	8	16	3	2			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr3:134670486C>T	ENST00000398015.3	+	3	767	c.397C>T	c.(397-399)Ccc>Tcc	p.P133S	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	133	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GTCTGAGGCCCCCTACCTCAA	0.507																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(397-399)Ccc>Tcc		EPH receptor B1							117	117	117					3																	134670486		2002	4220	6222	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134670486C>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.397C>T	3.37:g.134670486C>T	ENSP00000381097:p.Pro133Ser					EPHB1_ENST00000488154.1_3'UTR	p.P133S	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			3	767	+			133					A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.397C>T	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358433	0.82243	.	.	ENSG00000154928	ENST00000460895;ENST00000398015;ENST00000474732	T;T;T	0.03386	3.95;3.95;3.95	5.49	5.49	0.81192	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.14960	0.0361	L	0.48986	1.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.01118	-1.1446	10	0.36615	T	0.2	.	19.3701	0.94480	0.0:1.0:0.0:0.0	.	133;133	B5A969;P54762	.;EPHB1_HUMAN	S	111;133;111	ENSP00000417435:P111S;ENSP00000381097:P133S;ENSP00000418352:P111S	ENSP00000381097:P133S	P	+	1	0	EPHB1	136153176	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.574000	0.86865	0.650000	0.86243	CCC		0.507	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		72	182	0	0	0	0.870114	0	72	182					T	134670486	C	T	134670486	3	4	78	1	0	0	0	0	1	0	0	0	5174	623	22	2	407	2	EPHB1	3	134670486	Missense_Mutation	SNP	C	TCGA-DJ-A13W-01A-11D-A10S-08	34102774	134670486	63351944	8	1779											
SEC62	7095	broad.mit.edu	37	chr3	169700673	169700673	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagaaaaagagaaaaaaaaaGatggtgaaaaggaagaatcc	10	2	0	5			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr3:169700673G>A	ENST00000337002.4	+	4	488	c.430G>A	c.(430-432)Gat>Aat	p.D144N	SEC62_ENST00000480708.1_Missense_Mutation_p.D144N|SEC62-AS1_ENST00000479626.1_RNA	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	144					cotranslational protein targeting to membrane (GO:0006613)|posttranslational protein targeting to membrane (GO:0006620)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						gaaaaaaaaagatggtgaaaa	0.289																																						ENST00000337002.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						c.(430-432)Gat>Aat		SEC62 homolog (S. cerevisiae)							20	23	22					3																	169700673		2061	4208	6269	SO:0001583	missense	7095				cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity	g.chr3:169700673G>A	D87127	CCDS3210.1	3q26.2	2008-04-22	2008-04-22	2008-04-22	ENSG00000008952	ENSG00000008952			11846	protein-coding gene	gene with protein product		602173	"translocation protein 1"	TLOC1		9020021, 10799540	Standard	NM_003262		Approved	Dtrp1, HTP1	uc003fgh.3	Q99442	OTTHUMG00000158753	ENST00000337002.4:c.430G>A	3.37:g.169700673G>A	ENSP00000337688:p.Asp144Asn					SEC62_ENST00000480708.1_Missense_Mutation_p.D144N|SEC62-AS1_ENST00000479626.1_RNA	p.D144N	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN			4	488	+			144					D3DNQ0|O00682|O00729	Missense_Mutation	SNP	ENST00000337002.4	37	c.430G>A	CCDS3210.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.546577	0.65198	.	.	ENSG00000008952	ENST00000337002;ENST00000480708	D;D	0.83163	-1.69;-1.69	5.42	5.42	0.78866	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.422619	0.28465	N	0.015260	T	0.76863	0.4047	L	0.46157	1.445	0.50813	D	0.999892	P	0.37914	0.611	B	0.35240	0.198	T	0.73646	-0.3917	10	0.15499	T	0.54	-6.1389	15.8813	0.79207	0.0:0.0:0.864:0.136	.	144	Q99442	SEC62_HUMAN	N	144	ENSP00000337688:D144N;ENSP00000420331:D144N	ENSP00000337688:D144N	D	+	1	0	SEC62	171183367	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.561000	0.53770	2.700000	0.92200	0.585000	0.79938	GAT		0.289	SEC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352043.1			3	48	0	0	0	0.115264	0	3	48					A	169700673	G	A	169700673	3	1	78	1	0	0	0	0	1	0	0	0	14004	942	33	2	444	2	SEC62	3	169700673	Missense_Mutation	SNP	G	TCGA-DJ-A13W-01A-11D-A10S-08	35030187	169700673	28321757	9	1780											
KLB	152831	broad.mit.edu	37	chr4	39448955	39448955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgattccctggggggtgcGcaagctgctgcggtgggtcc	18	10	0	1			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr4:39448955G>A	ENST00000257408.4	+	4	2706	c.2609G>A	c.(2608-2610)cGc>cAc	p.R870H		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	870	Glycosyl hydrolase-1 2.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						TGGGGGGTGCGCAAGCTGCTG	0.657																																						ENST00000257408.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						c.(2608-2610)cGc>cAc		klotho beta							63	68	67					4																	39448955		2203	4300	6503	SO:0001583	missense	152831				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr4:39448955G>A	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.2609G>A	4.37:g.39448955G>A	ENSP00000257408:p.Arg870His						p.R870H	NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN			4	2706	+			870			Glycosyl hydrolase-1 2.		Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	37	c.2609G>A	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.912354	0.92178	.	.	ENSG00000134962	ENST00000257408	T	0.36699	1.24	5.23	4.39	0.52855	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.119942	0.56097	D	0.000040	T	0.62146	0.2404	M	0.83312	2.635	0.43471	D	0.99568	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.979	T	0.68796	-0.5314	10	0.87932	D	0	-7.3766	14.0442	0.64695	0.0737:0.0:0.9263:0.0	.	861;870	B7ZL50;Q86Z14	.;KLOTB_HUMAN	H	870	ENSP00000257408:R870H	ENSP00000257408:R870H	R	+	2	0	KLB	39125350	1.000000	0.71417	0.010000	0.14722	0.261000	0.26267	6.650000	0.74368	1.200000	0.43188	0.313000	0.20887	CGC		0.657	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		4	171	0	0	0	0.184627	0	4	171					A	39448955	G	A	39448955	3	1	78	1	0	0	0	0	1	0	0	0	8332	1087	38	1	2623	1	KLB	4	39448955	Missense_Mutation	SNP	G	TCGA-DJ-A13W-01A-11D-A10S-08		39448955	151705321	10	1781											
C6orf125	84300	broad.mit.edu	37	chr6	33669185	33669185	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtacatctgatcacaggcctCaggctctgcaacctgaaaag	9	12	4	2			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr6:33669185C>G	ENST00000607484.1	-	2	191	c.151G>C	c.(151-153)Gag>Cag	p.E51Q	UQCC2_ENST00000374214.3_Intron	NM_032340.3	NP_115716.1	Q9BRT2	UQCC2_HUMAN	ubiquinol-cytochrome c reductase complex assembly factor 2	51					regulation of insulin secretion (GO:0050796)|regulation of oxidative phosphorylation (GO:0002082)|regulation of skeletal muscle cell differentiation (GO:2001014)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											TCACAGGCCTCAGGCTCTGCA	0.473																																						ENST00000607484.1																			0											c.(151-153)Gag>Cag									137	132	134					6																	33669185		2203	4300	6503	SO:0001583	missense	0							g.chr6:33669185C>G		CCDS4784.1	6p21.31	2013-09-20	2013-09-20	2013-09-20	ENSG00000137288	ENSG00000137288		"Mitochondrial respiratory chain complex assembly factors"	21237	protein-coding gene	gene with protein product	"cytochrome B protein synthesis 6 homolog (S. cerevisiae)"	614461	"chromosome 6 open reading frame 125", "mitochondrial nucleoid factor 1"	C6orf125, MNF1		19643811	Standard	NM_032340		Approved	MGC14833, bA6B20.2, M19, Cbp6	uc003ofa.2	Q9BRT2	OTTHUMG00000014534	ENST00000607484.1:c.151G>C	6.37:g.33669185C>G	ENSP00000476140:p.Glu51Gln					MNF1_ENST00000374214.3_Intron	p.E51Q	NM_032340.3	NP_115716.1	Q9BRT2	CF125_HUMAN			2	191	-			51					B2R4I0	Missense_Mutation	SNP	ENST00000607484.1	37	c.151G>C	CCDS4784.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.941362	0.92526	.	.	ENSG00000137288	ENST00000374231	.	.	.	6.02	6.02	0.97574	.	0.106734	0.64402	D	0.000007	T	0.73202	0.3557	M	0.65975	2.015	0.80722	D	1	D	0.71674	0.998	D	0.65684	0.937	T	0.71842	-0.4470	9	0.51188	T	0.08	.	18.7213	0.91694	0.0:1.0:0.0:0.0	.	51	Q9BRT2	CF125_HUMAN	Q	51	.	ENSP00000363348:E51Q	E	-	1	0	C6orf125	33777163	0.998000	0.40836	0.998000	0.56505	0.996000	0.88848	5.038000	0.64177	2.865000	0.98341	0.655000	0.94253	GAG		0.473	UQCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040207.2	NM_032340		6	143	0	0	0	0.217242	0	6	143					G	33669185	C	G	33669185	3	3	78	1	0	0	0	0	1	0	0	0	2325	835	29	4	241	4	C6orf125	6	33669185	Missense_Mutation	SNP	C	TCGA-DJ-A13W-01A-11D-A10S-08		33669185	137445882	11	1782											
OR2A12	346525	broad.mit.edu	37	chr7	143793094	143793094	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaatgcagaggtgaaaggGgctctaaagagagtcctttg	15	5	1	3			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr7:143793094G>A	ENST00000408949.2	+	1	954	c.894G>A	c.(892-894)ggG>ggA	p.G298G		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	298						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)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					AGGTGAAAGGGGCTCTAAAGA	0.453																																						ENST00000408949.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25						c.(892-894)ggG>ggA		olfactory receptor, family 2, subfamily A, member 12							175	169	171					7																	143793094		1873	4107	5980	SO:0001819	synonymous_variant	346525				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143793094G>A		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"GPCR / Class A : Olfactory receptors"	15082	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily A, member 12 pseudogene"	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.894G>A	7.37:g.143793094G>A							p.G298G	NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN			1	954	+	Melanoma(164;0.0783)		298					Q6IF43	Silent	SNP	ENST00000408949.2	37	c.894G>A	CCDS43670.1																																																																																				0.453	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1			5	383	0	0	0	0.184627	0	5	383					A	143793094	G	A	143793094	2	1	78	1	0	0	0	0	0	0	0	1	10975	1219	43	2		2	OR2A12	7	143793094	Silent	SNP	G	TCGA-DJ-A13W-01A-11D-A10S-08		143793094	15345569	12	1783											
CACNA1B	774	broad.mit.edu	37	chr9	140809138	140809138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcaagtccatcatgaagGccatggttccactcctgcag	9	13	2	1			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr9:140809138G>A	ENST00000371372.1	+	5	800	c.655G>A	c.(655-657)Gcc>Acc	p.A219T	CACNA1B_ENST00000371357.1_Missense_Mutation_p.A219T|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A219T|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A219T|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A219T	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	219					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CATCATGAAGGCCATGGTTCC	0.557																																						ENST00000371372.1																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(655-657)Gcc>Acc		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						119	117	118					9																	140809138		2114	4227	6341	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140809138G>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.655G>A	9.37:g.140809138G>A	ENSP00000360423:p.Ala219Thr					CACNA1B_ENST00000371363.1_Missense_Mutation_p.A219T|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A219T|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A219T|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A219T|CACNA1B_ENST00000277549.5_5'UTR	p.A219T	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	5	800	+	all_cancers(76;0.166)		219					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.655G>A	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119467	0.77323	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.98512	-4.97;-4.97;-4.97;-4.97;-4.97	4.34	4.34	0.51931	.	0.057086	0.64402	D	0.000001	D	0.99048	0.9674	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99560	1.0968	10	0.87932	D	0	.	17.0399	0.86486	0.0:0.0:1.0:0.0	.	219	B1AQK6	.	T	219	ENSP00000360423:A219T;ENSP00000277551:A219T;ENSP00000360414:A219T;ENSP00000360408:A219T;ENSP00000360406:A219T	ENSP00000277551:A219T	A	+	1	0	CACNA1B	139928959	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.478000	0.97927	2.218000	0.71995	0.561000	0.74099	GCC		0.557	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		12	29	0	0	0	0.38729	0	12	29					A	140809138	G	A	140809138	3	1	78	1	0	0	0	0	1	0	0	0	2539	1203	42	2	673	2	CACNA1B	9	140809138	Missense_Mutation	SNP	G	TCGA-DJ-A13W-01A-11D-A10S-08		140809138	404293	13	1784											
OR5L2	26338	broad.mit.edu	37	chr11	55594762	55594762	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actatcagatgtccctgagtTgagagtctgcctcttcctgc	9	12	3	3			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr11:55594762T>A	ENST00000378397.1	+	1	68	c.68T>A	c.(67-69)tTg>tAg	p.L23*		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GTCCCTGAGTTGAGAGTCTGC	0.488										HNSCC(27;0.073)																												ENST00000378397.1																			0				breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(67-69)tTg>tAg		olfactory receptor, family 5, subfamily L, member 2							240	221	227					11																	55594762		2200	4293	6493	SO:0001587	stop_gained	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55594762T>A	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"GPCR / Class A : Olfactory receptors"	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.68T>A	11.37:g.55594762T>A	ENSP00000367650:p.Leu23*	HNSCC(27;0.073)					p.L23*	NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN			1	68	+		all_epithelial(135;0.208)	23					Q6IF66|Q96RB2	Nonsense_Mutation	SNP	ENST00000378397.1	37	c.68T>A	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	15.11	2.735098	0.48939	.	.	ENSG00000205030	ENST00000378397	.	.	.	5.31	4.15	0.48705	.	0.000000	0.38778	N	0.001564	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4956	11.6298	0.51166	0.0:0.0:0.149:0.851	.	.	.	.	X	23	.	ENSP00000367650:L23X	L	+	2	0	OR5L2	55351338	0.011000	0.17503	0.002000	0.10522	0.004000	0.04260	1.916000	0.39986	0.951000	0.37770	0.509000	0.49947	TTG		0.488	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		7	368	0	0	0	0.248553	0	7	368					A	55594762	T	A	55594762	4	1	78	1	0	0	0	0	0	1	0	0	11171	1821	63	5	70	5	OR5L2	11	55594762	Nonsense_Mutation	SNP	T	TCGA-DJ-A13W-01A-11D-A10S-08		55594762	79411754	14	1785											
SDHD	6392	broad.mit.edu	37	chr11	111959647	111959647	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagggttgtcagtgttttgCtcctgggtctgcttccggct	14	9	2	1			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr11:111959647C>T	ENST00000375549.3	+	3	361	c.226C>T	c.(226-228)Ctc>Ttc	p.L76F	SDHD_ENST00000528048.1_Intron|SDHD_ENST00000532699.1_Missense_Mutation_p.L76F|SDHD_ENST00000525291.1_Missense_Mutation_p.L37F|SDHD_ENST00000528182.1_Missense_Mutation_p.L76F|TIMM8B_ENST00000541231.1_5'Flank|SDHD_ENST00000526592.1_Missense_Mutation_p.L76F|SDHD_ENST00000528021.1_Missense_Mutation_p.L76F|TIMM8B_ENST00000504148.2_5'Flank|TIMM8B_ENST00000507614.1_5'Flank	NM_003002.2	NP_002993.1	O14521	DHSD_HUMAN	succinate dehydrogenase complex, subunit D, integral membrane protein	76					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|succinate dehydrogenase activity (GO:0000104)|ubiquinone binding (GO:0048039)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.13e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.05e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0515)	Hexachlorophene(DB00756)|Succinic acid(DB00139)	CAGTGTTTTGCTCCTGGGTCT	0.498			"Mis, N, F, S"			"paraganglioma, pheochromocytoma"			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome																													ENST00000375549.3			yes	Rec		Familial paraganglioma	11	11q23	6392	"Mis, N, F, S"	"succinate dehydrogenase complex, subunit D, integral membrane protein"			O		"paraganglioma, pheochromocytoma"			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(226-228)Ctc>Ttc		succinate dehydrogenase complex, subunit D, integral membrane protein	Succinic acid(DB00139)						78	77	77					11																	111959647		2201	4294	6495	SO:0001583	missense	6392	Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II	electron carrier activity|heme binding|succinate dehydrogenase activity|ubiquinone binding	g.chr11:111959647C>T	AB006202	CCDS31678.1, CCDS60958.1, CCDS60959.1, CCDS60960.1	11q23	2014-09-17				ENSG00000204370		"Mitochondrial respiratory chain complex / Complex II"	10683	protein-coding gene	gene with protein product		602690		PGL, PGL1		9533030, 1301144	Standard	NM_003002		Approved		uc001pmz.4	O14521		ENST00000375549.3:c.226C>T	11.37:g.111959647C>T	ENSP00000364699:p.Leu76Phe					SDHD_ENST00000525291.1_Missense_Mutation_p.L37F|SDHD_ENST00000528048.1_Intron|SDHD_ENST00000528182.1_Missense_Mutation_p.L76F|SDHD_ENST00000528021.1_Missense_Mutation_p.L76F|SDHD_ENST00000526592.1_Missense_Mutation_p.L76F|SDHD_ENST00000532699.1_Missense_Mutation_p.L76F	p.L76F	NM_003002.2	NP_002993.1	O14521	DHSD_HUMAN		Epithelial(105;6.13e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.05e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0515)	3	361	+		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	76					A6ND90|B3KQQ8|E9PIC0|E9PIG3|E9PQI9|Q53XW5|Q6IRW2	Missense_Mutation	SNP	ENST00000375549.3	37	c.226C>T	CCDS31678.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005723	0.74932	.	.	ENSG00000204370	ENST00000375549;ENST00000528182;ENST00000528021;ENST00000526592;ENST00000525291	D;D;D;D;D	0.99282	-5.68;-5.68;-5.68;-5.68;-5.68	5.04	4.11	0.48088	.	0.000000	0.64402	D	0.000001	D	0.99190	0.9719	M	0.80616	2.505	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	D	0.99671	1.0996	10	0.62326	D	0.03	-3.599	8.1814	0.31313	0.1675:0.7534:0.0:0.0792	.	76	O14521	DHSD_HUMAN	F	76;76;76;76;37	ENSP00000364699:L76F;ENSP00000435475:L76F;ENSP00000432465:L76F;ENSP00000432005:L76F;ENSP00000436669:L37F	ENSP00000436395:L76F	L	+	1	0	SDHD	111464857	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	1.812000	0.38952	1.074000	0.40909	0.585000	0.79938	CTC		0.498	SDHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392351.1	NM_003002		5	89	0	0	0	0.184627	0	5	89					T	111959647	C	T	111959647	3	4	78	1	0	0	0	0	1	0	0	0	13967	797	28	2	236	2	SDHD	11	111959647	Missense_Mutation	SNP	C	TCGA-DJ-A13W-01A-11D-A10S-08	56364885	111959647	23046869	15	1786											
TPH2	121278	broad.mit.edu	37	chr12	72388217	72388217	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgatgtcttttttgtcAgagacacatgccatgaactc	8	8	2	3			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr12:72388217A>G	ENST00000333850.3	+	8	1082		c.e8-1			NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2						aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	CTTTTTTGTCAGAGACACATG	0.393																																						ENST00000333850.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41						c.e8-1		tryptophan hydroxylase 2	L-Tryptophan(DB00150)						140	136	137					12																	72388217		2203	4300	6503	SO:0001630	splice_region_variant	121278				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr12:72388217A>G	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.942-1A>G	12.37:g.72388217A>G								NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN			8	1082	+								A6NGA4|Q14CB0	Splice_Site	SNP	ENST00000333850.3	37		CCDS31859.1	.	.	.	.	.	.	.	.	.	.	A	16.25	3.070149	0.55539	.	.	ENSG00000139287	ENST00000333850	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TPH2	70674484	1.000000	0.71417	0.969000	0.41365	0.364000	0.29643	9.339000	0.96797	2.254000	0.74563	0.533000	0.62120	.		0.393	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353	Intron	82	101	0	0	0	0.870114	0	82	101					G	72388217	A	G	72388217	5	3	78	1	0	0	0	0	0	0	1	0	16399	202	7	3	970	3	TPH2	12	72388217	Splice_Site	SNP	A	TCGA-DJ-A13W-01A-11D-A10S-08		72388217	61463678	16	1787											
NAV3	89795	broad.mit.edu	37	chr12	78515989	78515989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatcggttcactctttcaCatcaggtggtctcgtgtggg	12	10	5	0			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr12:78515989C>T	ENST00000397909.2	+	16	4192	c.4019C>T	c.(4018-4020)aCa>aTa	p.T1340I	NAV3_ENST00000536525.2_Missense_Mutation_p.T1340I|NAV3_ENST00000228327.6_Missense_Mutation_p.T1340I|NAV3_ENST00000266692.7_Intron			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1340	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CACTCTTTCACATCAGGTGGT	0.517										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(4018-4020)aCa>aTa		neuron navigator 3							87	86	86					12																	78515989		2011	4188	6199	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78515989C>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4019C>T	12.37:g.78515989C>T	ENSP00000381007:p.Thr1340Ile	HNSCC(70;0.22)				NAV3_ENST00000536525.2_Missense_Mutation_p.T1340I|NAV3_ENST00000266692.7_Intron|NAV3_ENST00000228327.6_Missense_Mutation_p.T1340I	p.T1340I			Q8IVL0	NAV3_HUMAN			16	4192	+			1340			Ser-rich.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.4019C>T		.	.	.	.	.	.	.	.	.	.	C	19.20	3.781644	0.70222	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327	T;T;T	0.27557	1.66;1.66;1.66	5.96	5.96	0.96718	.	0.000000	0.41294	U	0.000917	T	0.41604	0.1166	L	0.36672	1.1	0.80722	D	1	D;D;B	0.57571	0.959;0.98;0.302	P;P;B	0.53035	0.716;0.696;0.146	T	0.11916	-1.0568	10	0.62326	D	0.03	-17.9749	20.4082	0.99013	0.0:1.0:0.0:0.0	.	1340;1340;1340	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	I	1340	ENSP00000446132:T1340I;ENSP00000381007:T1340I;ENSP00000228327:T1340I	ENSP00000228327:T1340I	T	+	2	0	NAV3	77040120	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	5.784000	0.68990	2.814000	0.96858	0.655000	0.94253	ACA		0.517	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		13	165	0	0	0	0.435327	0	13	165					T	78515989	C	T	78515989	3	4	78	1	0	0	0	0	1	0	0	0	10185	478	17	2	4081	2	NAV3	12	78515989	Missense_Mutation	SNP	C	TCGA-DJ-A13W-01A-11D-A10S-08	6127772	78515989	55335906	17	1788											
ATP2A2	488	broad.mit.edu	37	chr12	110783837	110783837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagtccttgctgaggatgCccccctgggagaacatctgg	12	13	1	2			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr12:110783837C>T	ENST00000539276.2	+	19	2882	c.2773C>T	c.(2773-2775)Ccc>Tcc	p.P925S	ATP2A2_ENST00000395494.2_Missense_Mutation_p.P898S|ATP2A2_ENST00000308664.6_Missense_Mutation_p.P925S			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	925					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GCTGAGGATGCCCCCCTGGGA	0.577																																						ENST00000395494.2																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						c.(2692-2694)Ccc>Tcc		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2							172	139	150					12																	110783837		2203	4300	6503	SO:0001583	missense	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110783837C>T		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"ATPases / P-type"	812	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 2", "calcium pump 2"	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.2773C>T	12.37:g.110783837C>T	ENSP00000440045:p.Pro925Ser					ATP2A2_ENST00000539276.2_Missense_Mutation_p.P925S|ATP2A2_ENST00000308664.6_Missense_Mutation_p.P925S	p.P898S			P16615	AT2A2_HUMAN			18	3255	+			925					A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	ENST00000539276.2	37	c.2692C>T	CCDS9144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.9|21.9	4.214102|4.214102	0.79352|0.79352	.|.	.|.	ENSG00000174437|ENSG00000174437	ENST00000548169|ENST00000308664;ENST00000395494;ENST00000539276	.|D;D;D	.|0.88046	.|-2.33;-2.33;-2.33	6.17|6.17	6.17|6.17	0.99709|0.99709	.|ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91905|0.91905	0.7437|0.7437	M|M	0.86573|0.86573	2.825|2.825	0.80722|0.80722	D|D	1|1	.|P;B;P	.|0.39748	.|0.686;0.296;0.6	.|P;B;B	.|0.44811	.|0.461;0.097;0.375	D|D	0.91551|0.91551	0.5257|0.5257	5|10	.|0.59425	.|D	.|0.04	.|.	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|898;925;925	.|P16615-4;P16615-2;P16615	.|.;.;AT2A2_HUMAN	V|S	815|925;898;925	.|ENSP00000311186:P925S;ENSP00000378872:P898S;ENSP00000440045:P925S	.|ENSP00000311186:P925S	A|P	+|+	2|1	0|0	ATP2A2|ATP2A2	109268220|109268220	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.818000|7.818000	0.86416|0.86416	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCC|CCC		0.577	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		4	191	0	0	0	0.150653	0	4	191					T	110783837	C	T	110783837	3	4	78	1	0	0	0	0	1	0	0	0	1137	739	26	2	2847	2	ATP2A2	12	110783837	Missense_Mutation	SNP	C	TCGA-DJ-A13W-01A-11D-A10S-08	32267848	110783837	23068058	18	1789											
GLCE	26035	broad.mit.edu	37	chr15	69561376	69561376	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaatctcttaaagccatgctGcccttgtatgacactggctc	8	12	1	1			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr15:69561376G>T	ENST00000261858.2	+	5	1875	c.1647G>T	c.(1645-1647)ctG>ctT	p.L549L	GLCE_ENST00000559420.2_Silent_p.L485L	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	549					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						AAGCCATGCTGCCCTTGTATG	0.488																																						ENST00000261858.2																			0				NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(1645-1647)ctG>ctT		glucuronic acid epimerase							167	148	155					15																	69561376		2200	4298	6498	SO:0001819	synonymous_variant	26035				heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity	g.chr15:69561376G>T	AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"heparan sulfate epimerase"	612134	"D-glucuronyl C5-epimerase", "UDP-glucuronic acid epimerase"			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.1647G>T	15.37:g.69561376G>T						GLCE_ENST00000559420.2_Silent_p.L485L	p.L549L	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN			5	1875	+			549					Q6GUQ2	Silent	SNP	ENST00000261858.2	37	c.1647G>T	CCDS32277.1																																																																																				0.488	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015554		4	188	1	0	0.150653	0.150653	0.164349	4	188					T	69561376	G	T	69561376	2	4	78	1	0	0	0	0	0	0	0	1	6432	1306	46	4		4	GLCE	15	69561376	Silent	SNP	G	TCGA-DJ-A13W-01A-11D-A10S-08		69561376	32970016	19	1790											
SDK2	54549	broad.mit.edu	37	chr17	71375612	71375612	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccaacaaagacctcctgCggggggctggagggcccctc	13	16	0	1	rs144878236	byFrequency	TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr17:71375612C>T	ENST00000392650.3	-	35	4839	c.4839G>A	c.(4837-4839)ccG>ccA	p.P1613P	SDK2_ENST00000388726.3_Silent_p.P1594P	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1613	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						AGACCTCCTGCGGGGGGCTGG	0.657													C|||	7	0.00139776	0.0038	0.0014	5008	,	,		15210	0.001		0	False		,,,				2504	0					ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(4837-4839)ccG>ccA		sidekick cell adhesion molecule 2		C		52,4354	51.6+/-87.1	0,52,2151	39	38	38		4839	-9.2	0.1	17	dbSNP_134	38	0,8598		0,0,4299	no	coding-synonymous	SDK2	NM_001144952.1		0,52,6450	TT,TC,CC		0.0,1.1802,0.3999		1613/2173	71375612	52,12952	2203	4299	6502	SO:0001819	synonymous_variant	54549				cell adhesion	integral to membrane		g.chr17:71375612C>T	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.4839G>A	17.37:g.71375612C>T						SDK2_ENST00000388726.3_Silent_p.P1594P	p.P1613P	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			35	4839	-			1613			Fibronectin type-III 10.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	ENST00000392650.3	37	c.4839G>A	CCDS45769.1																																																																																				0.657	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		17	28	0	0	0	0.575678	0	17	28					T	71375612	C	T	71375612	2	4	78	1	0	0	0	0	0	0	0	1	13969	755	27	1		1	SDK2	17	71375612	Silent	SNP	C	TCGA-DJ-A13W-01A-11D-A10S-08		71375612	9819598	20	1791											
KANK2	25959	broad.mit.edu	37	chr19	11287390	11287390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgagctggggggcttcggCcacactcggaaccctctccc	12	17	1	1			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr19:11287390C>T	ENST00000586659.1	-	7	1938	c.1624G>A	c.(1624-1626)Gcc>Acc	p.A542T	KANK2_ENST00000432929.2_Missense_Mutation_p.A550T|KANK2_ENST00000355150.5_Missense_Mutation_p.A542T|KANK2_ENST00000589359.1_Missense_Mutation_p.A550T|KANK2_ENST00000589894.1_Missense_Mutation_p.A542T			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	542					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGGGCTTCGGCCACACTCGGA	0.622																																						ENST00000432929.2																			0				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1648-1650)Gcc>Acc		KN motif and ankyrin repeat domains 2							99	92	94					19																	11287390		2203	4300	6503	SO:0001583	missense	25959							g.chr19:11287390C>T	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	29300	protein-coding gene	gene with protein product		614610	"matrix-remodelling associated 3", "ankyrin repeat domain 25"	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.1624G>A	19.37:g.11287390C>T	ENSP00000465650:p.Ala542Thr					KANK2_ENST00000355150.5_Missense_Mutation_p.A542T|KANK2_ENST00000586659.1_Missense_Mutation_p.A542T|KANK2_ENST00000589359.1_Missense_Mutation_p.A550T|KANK2_ENST00000589894.1_Missense_Mutation_p.A542T	p.A550T	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN			7	2008	-			542					B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Missense_Mutation	SNP	ENST00000586659.1	37	c.1648G>A	CCDS12255.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.635260	0.47049	.	.	ENSG00000197256	ENST00000432929;ENST00000355150	T;T	0.39056	1.1;1.13	5.29	0.431	0.16523	.	0.455939	0.21234	N	0.077937	T	0.31263	0.0791	L	0.59436	1.845	0.09310	N	1	B;B	0.22683	0.041;0.073	B;B	0.24394	0.037;0.053	T	0.14531	-1.0469	10	0.18276	T	0.48	-11.2264	5.4094	0.16341	0.1256:0.4462:0.3477:0.0806	.	542;550	Q63ZY3;Q63ZY3-2	KANK2_HUMAN;.	T	550;542	ENSP00000395650:A550T;ENSP00000347276:A542T	ENSP00000347276:A542T	A	-	1	0	KANK2	11148390	0.001000	0.12720	0.011000	0.14972	0.237000	0.25408	0.022000	0.13511	0.687000	0.31509	0.462000	0.41574	GCC		0.622	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		27	112	0	0	0	0.681144	0	27	112					T	11287390	C	T	11287390	3	4	78	1	0	0	0	0	1	0	0	0	7977	739	26	2	959	2	KANK2	19	11287390	Missense_Mutation	SNP	C	TCGA-DJ-A13W-01A-11D-A10S-08		11287390	47841593	21	1792											
JUNB	3726	broad.mit.edu	37	chr19	12903374	12903374	+	Frame_Shift_Del	DEL	G	G	-													ccggtgtcccccatcaacatGgaagaccaagagcgcatcaa							TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr19:12903374delG	ENST00000302754.4	+	1	1065	c.789delG	c.(787-789)atgfs	p.M263fs		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	263					cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|decidualization (GO:0046697)|embryonic process involved in female pregnancy (GO:0060136)|gene expression (GO:0010467)|labyrinthine layer blood vessel development (GO:0060716)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|osteoclast differentiation (GO:0030316)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						CCATCAACATGGAAGACCAAG	0.706																																						ENST00000302754.4																			0				central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						c.(787-789)atfs		jun B proto-oncogene							8	9	9					19																	12903374		2128	4213	6341	SO:0001589	frameshift_variant	3726					chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity	g.chr19:12903374delG	M29039	CCDS12280.1	19p13.13	2013-01-10				ENSG00000171223		"basic leucine zipper proteins"	6205	protein-coding gene	gene with protein product		165161				2513129	Standard	NM_002229		Approved		uc002mvc.3	P17275		ENST00000302754.4:c.789delG	19.37:g.12903374delG	ENSP00000303315:p.Met263fs						p.M263fs	NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN			1	1065	+			263					Q96GH3	Frame_Shift_Del	DEL	ENST00000302754.4	37	c.789delG	CCDS12280.1																																																																																				0.706	JUNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451015.1	NM_002229		2	4						2	4	---	---	---	---	-	12903374	G	-	12903374	7	5	78	1	0	1	0	1	0	0	0	0	7970	1348	47	0	791	0	JUNB	19	12903374	Frame_Shift_Del	DEL	G	TCGA-DJ-A13W-01A-11D-A10S-08	1615984	12903374	46225609	22	1793											
TPST2	8459	broad.mit.edu	37	chr22	26937461	26937461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctcctcctgctcaggccGcatggccccccgggggctcc	12	20	1	0			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr22:26937461G>A	ENST00000338754.4	-	3	406	c.136C>T	c.(136-138)Cgg>Tgg	p.R46W	TPST2_ENST00000398110.2_Missense_Mutation_p.R46W|TPST2_ENST00000403880.1_Missense_Mutation_p.R46W	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	46					fusion of sperm to egg plasma membrane (GO:0007342)|peptidyl-tyrosine sulfation (GO:0006478)|prevention of polyspermy (GO:0060468)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			central_nervous_system(1)|large_intestine(1)|lung(5)	7						TGCTCAGGCCGCATGGCCCCC	0.701																																						ENST00000338754.4																			0				central_nervous_system(1)|large_intestine(1)|lung(5)	7						c.(136-138)Cgg>Tgg		tyrosylprotein sulfotransferase 2							45	39	41					22																	26937461		2185	4257	6442	SO:0001583	missense	8459				peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr22:26937461G>A	AF049891	CCDS13839.1	22q12.1	2012-12-13			ENSG00000128294	ENSG00000128294	2.8.2.20	"Sulfotransferases, membrane-bound"	12021	protein-coding gene	gene with protein product	"transport and golgi organization 13 homolog B (Drosophila)"	603126				9736702, 9733778	Standard	NM_003595		Approved	TANGO13B	uc003acx.3	O60704	OTTHUMG00000150987	ENST00000338754.4:c.136C>T	22.37:g.26937461G>A	ENSP00000339813:p.Arg46Trp					TPST2_ENST00000403880.1_Missense_Mutation_p.R46W|TPST2_ENST00000398110.2_Missense_Mutation_p.R46W	p.R46W	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN			3	406	-			46					B3KQA7|Q6FI98|Q9H0V4	Missense_Mutation	SNP	ENST00000338754.4	37	c.136C>T	CCDS13839.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.299440	0.23650	.	.	ENSG00000128294	ENST00000338754;ENST00000398110;ENST00000403880;ENST00000442495;ENST00000454778;ENST00000440953;ENST00000453117;ENST00000450022	.	.	.	4.95	1.41	0.22369	.	0.398194	0.20982	N	0.082188	T	0.38374	0.1038	N	0.24115	0.695	0.38148	D	0.938657	B	0.06786	0.001	B	0.01281	0.0	T	0.26744	-1.0094	9	0.66056	D	0.02	-23.8602	6.5609	0.22485	0.0907:0.0:0.3942:0.5151	.	46	O60704	TPST2_HUMAN	W	46	.	ENSP00000339813:R46W	R	-	1	2	TPST2	25267461	0.999000	0.42202	0.997000	0.53966	0.209000	0.24338	1.285000	0.33261	0.479000	0.27511	-0.192000	0.12808	CGG		0.701	TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320820.3	NM_003595		3	51	0	0	0	0.150653	0	3	51					A	26937461	G	A	26937461	3	1	78	1	0	0	0	0	1	0	0	0	16425	1086	38	1	1013	1	TPST2	22	26937461	Missense_Mutation	SNP	G	TCGA-DJ-A13W-01A-11D-A10S-08		26937461	24367105	23	1794											
NUDT10	170685	broad.mit.edu	37	chrX	51076024	51076024	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccgagaggtgtacgaagaGgcgggagtcaaggggaagtt	19	5	1	2	rs143435240		TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	234					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657																																					NSCLC(90;1817 2035 37909 38249)	ENST00000376006.3																			8	Substitution - coding silent(8)	p.E69E(8)	endometrium(5)|cervix(1)|prostate(1)|lung(1)	cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(205-207)gaG>gaA		nudix (nucleoside diphosphate linked moiety X)-type motif 10							52	62	59					X																	51076024		2203	4300	6503	SO:0001819	synonymous_variant	170685					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51076024G>A	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"Nudix motif containing"	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.207G>A	X.37:g.51076024G>A						NUDT10_ENST00000356450.2_Silent_p.E69E	p.E69E	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN			2	427	+	Ovarian(276;0.236)		69			Nudix hydrolase.		Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	c.207G>A	CCDS35278.1																																																																																				0.657	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		4	67	0	0	0	0.150653	0	4	67					A	51076024	G	A	51076024	2	1	78	1	0	0	0	0	0	0	0	1	10726	991	35	2		2	NUDT10	23	51076024	Silent	SNP	G	TCGA-DJ-A13W-01A-11D-A10S-08		51076024	104194536	24	1795											
OCRL	4952	broad.mit.edu	37	chrX	128709875	128709875	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctgtctgttattccccagtTtgtgtttgaaaatgtgaagt	9	6	2	2			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chrX:128709875T>A	ENST00000371113.4	+	17	1880	c.1715T>A	c.(1714-1716)tTt>tAt	p.F572Y	OCRL_ENST00000357121.5_Splice_Site_p.F572Y	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	572	ASH.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						ATTCCCCAGTTTGTGTTTGAA	0.393																																						ENST00000371113.4																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						c.e17-1		oculocerebrorenal syndrome of Lowe							103	102	102					X																	128709875		2203	4300	6503	SO:0001630	splice_region_variant	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128709875T>A	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.1714-1T>A	X.37:g.128709875T>A						OCRL_ENST00000357121.5_Splice_Site_p.F572_splice	p.F572_splice	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN			17	1880	+			572					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Splice_Site	SNP	ENST00000371113.4	37	c.1713_splice	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.554801	0.86231	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.94613	-3.47;-3.47	5.69	5.69	0.88448	.	0.144593	0.64402	D	0.000004	D	0.96962	0.9008	M	0.79258	2.445	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.926	D	0.97431	1.0015	10	0.72032	D	0.01	.	14.0213	0.64558	0.0:0.0:0.0:1.0	.	572;572	Q01968-2;Q01968	.;OCRL_HUMAN	Y	572	ENSP00000360154:F572Y;ENSP00000349635:F572Y	ENSP00000349635:F572Y	F	+	2	0	OCRL	128537556	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.662000	0.83803	1.909000	0.55274	0.486000	0.48141	TTT		0.393	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276	Missense_Mutation	81	111	0	0	0	0.870114	0	81	111					A	128709875	T	A	128709875	5	1	78	1	0	0	0	0	0	0	1	0	10823	1855	64	5	1781	5	OCRL	23	128709875	Splice_Site	SNP	T	TCGA-DJ-A13W-01A-11D-A10S-08	77633851	128709875	26560685	25	1796			1	7		2	2	21	T		1.679748e-05
OCRL	4952	broad.mit.edu	37	chrX	128709895	128709895	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtttgaaaatgtgaagTttcggcaactacaaaaggag	11	4	0	2			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chrX:128709895T>C	ENST00000371113.4	+	17	1900	c.1735T>C	c.(1735-1737)Ttt>Ctt	p.F579L	OCRL_ENST00000357121.5_Missense_Mutation_p.F579L	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	579	ASH.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						AAATGTGAAGTTTCGGCAACT	0.408																																						ENST00000371113.4																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						c.(1735-1737)Ttt>Ctt		oculocerebrorenal syndrome of Lowe							116	113	114					X																	128709895		2203	4300	6503	SO:0001583	missense	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128709895T>C	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.1735T>C	X.37:g.128709895T>C	ENSP00000360154:p.Phe579Leu					OCRL_ENST00000357121.5_Missense_Mutation_p.F579L	p.F579L	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN			17	1900	+			579					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	c.1735T>C	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	T	29.3	4.993817	0.93167	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.95069	-3.6;-3.6	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97049	0.9036	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.80764	0.994;0.944	D	0.97606	1.0126	10	0.87932	D	0	.	14.0213	0.64558	0.0:0.0:0.0:1.0	.	579;579	Q01968-2;Q01968	.;OCRL_HUMAN	L	579	ENSP00000360154:F579L;ENSP00000349635:F579L	ENSP00000349635:F579L	F	+	1	0	OCRL	128537576	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.662000	0.83803	1.909000	0.55274	0.486000	0.48141	TTT		0.408	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		85	129	0	0	0	0.870114	0	85	129					C	128709895	T	C	128709895	3	2	78	1	0	0	0	0	1	0	0	0	10823	1725	60	3	1801	3	OCRL	23	128709895	Missense_Mutation	SNP	T	TCGA-DJ-A13W-01A-11D-A10S-08	20	128709895	26560665	26	1797			1	7		2	2	21	T		1.679748e-05
BRDT	676	broad.mit.edu	37	chr1	92430277	92430277	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cgaaggcttcagaatgtataGaagacttcaatacaatgttc	8	7	2	3	rs200845876		TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr1:92430277G>C	ENST00000362005.3	+	4	704	c.286G>C	c.(286-288)Gaa>Caa	p.E96Q	BRDT_ENST00000370389.2_Missense_Mutation_p.E23Q|BRDT_ENST00000402388.1_Missense_Mutation_p.E96Q|BRDT_ENST00000394530.3_Intron|BRDT_ENST00000399546.2_Missense_Mutation_p.E96Q	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	96	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AGAATGTATAGAAGACTTCAA	0.289																																						ENST00000370389.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56						c.(67-69)Gaa>Caa		bromodomain, testis-specific							36	38	38					1																	92430277		2190	4276	6466	SO:0001583	missense	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92430277G>C	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"cancer/testis antigen 9"	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.286G>C	1.37:g.92430277G>C	ENSP00000354568:p.Glu96Gln					BRDT_ENST00000394530.3_Intron|BRDT_ENST00000399546.2_Missense_Mutation_p.E96Q|BRDT_ENST00000402388.1_Missense_Mutation_p.E96Q|BRDT_ENST00000362005.3_Missense_Mutation_p.E96Q	p.E23Q	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	3	991	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	96					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	c.67G>C	CCDS735.1	.	.	.	.	.	.	.	.	.	.	G	6.291	0.421849	0.11928	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000423434;ENST00000440509;ENST00000427104;ENST00000448194;ENST00000426141;ENST00000450792;ENST00000548992;ENST00000552654;ENST00000402388	T;T;T;T;T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;3.14;1.47;1.47;1.47	5.43	4.52	0.55395	Bromodomain (6);Bromodomain, conserved site (1);	0.335067	0.28809	N	0.014067	T	0.05135	0.0137	N	0.04162	-0.26	0.80722	D	1	B;P	0.44044	0.051;0.825	B;B	0.43536	0.025;0.423	T	0.10683	-1.0619	10	0.02654	T	1	-11.5966	9.6595	0.39947	0.0754:0.1408:0.7838:0.0	.	96;96	B7Z890;Q58F21	.;BRDT_HUMAN	Q	96;23;96;96;96;96;96;96;96;96;96;23;96	ENSP00000354568:E96Q;ENSP00000359416:E23Q;ENSP00000387822:E96Q;ENSP00000396351:E96Q;ENSP00000416714:E96Q;ENSP00000400002:E96Q;ENSP00000410587:E96Q;ENSP00000404969:E96Q;ENSP00000414349:E96Q;ENSP00000447394:E96Q;ENSP00000446599:E23Q;ENSP00000384051:E96Q	ENSP00000354568:E96Q	E	+	1	0	BRDT	92202865	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.191000	0.50981	1.316000	0.45131	0.650000	0.86243	GAA		0.289	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		4	77	0	0	0	0.009096	0	4	77					C	92430277	G	C	92430277	3	2	79	1	0	0	0	0	1	0	0	0	1508	943	33	4	292	4	BRDT	1	92430277	Missense_Mutation	SNP	G	TCGA-DJ-A13X-01A-11D-A10S-08		92430277	156820344	1	1798											
FNDC7	163479	broad.mit.edu	37	chr1	109268557	109268557	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtgtggcttcacttatTttattagtgtttttgtctat	8	5	2	1			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr1:109268557T>G	ENST00000370017.3	+	6	1319	c.1042T>G	c.(1042-1044)Ttt>Gtt	p.F348V	FNDC7_ENST00000271311.2_Missense_Mutation_p.F349V	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	348	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CTTCACTTATTTTATTAGTGT	0.398																																						ENST00000370017.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20						c.(1042-1044)Ttt>Gtt		fibronectin type III domain containing 7							171	165	167					1																	109268557		2203	4300	6503	SO:0001583	missense	163479					extracellular region		g.chr1:109268557T>G		CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"Fibronectin type III domain containing"	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.1042T>G	1.37:g.109268557T>G	ENSP00000359034:p.Phe348Val					FNDC7_ENST00000271311.2_Missense_Mutation_p.F349V	p.F348V	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)	6	1319	+		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)	349			Fibronectin type-III 4.		A1L468|E9PAZ5|Q6PF16|Q8NA51	Missense_Mutation	SNP	ENST00000370017.3	37	c.1042T>G	CCDS44185.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.19|19.19	3.779563|3.779563	0.70107|0.70107	.|.	.|.	ENSG00000143107|ENSG00000143107	ENST00000445274|ENST00000370017;ENST00000271311	.|T;T	.|0.22743	.|1.94;1.94	6.05|6.05	6.05|6.05	0.98169|0.98169	.|Fibronectin, type III (3);	0.151005|0.151005	0.64402|0.64402	D|D	0.000010|0.000010	T|T	0.21347|0.21347	0.0514|0.0514	L|L	0.51422|0.51422	1.61|1.61	0.48632|0.48632	D|D	0.999686|0.999686	.|P;D	.|0.57899	.|0.656;0.981	.|B;P	.|0.53313	.|0.358;0.723	T|T	0.01127|0.01127	-1.1443|-1.1443	6|10	.|0.26408	.|T	.|0.33	-21.9382|-21.9382	16.6|16.6	0.84812|0.84812	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|349;348	.|Q5VTL7;E9PAZ5	.|FNDC7_HUMAN;.	C|V	123|348;349	.|ENSP00000359034:F348V;ENSP00000271311:F349V	.|ENSP00000271311:F349V	F|F	+|+	2|1	0|0	FNDC7|FNDC7	109070080|109070080	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.869000|0.869000	0.49853|0.49853	3.422000|3.422000	0.52749|0.52749	2.323000|2.323000	0.78572|0.78572	0.533000|0.533000	0.62120|0.62120	TTT|TTT		0.398	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030589.4	NM_173532		9	198	0	0	0	0.047766	0	9	198					G	109268557	T	G	109268557	3	3	79	1	0	0	0	0	1	0	0	0	5973	1841	64	5	1064	5	FNDC7	1	109268557	Missense_Mutation	SNP	T	TCGA-DJ-A13X-01A-11D-A10S-08	16838280	109268557	139982064	2	1799											
FAM110C	642273	broad.mit.edu	37	chr2	45588	45588	+	Silent	SNP	G	G	C													tcctgcagcccctcgtcgtcGccgccgctgtgccgggagaa							TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr2:45588G>C	ENST00000327669.4	-	1	797	c.798C>G	c.(796-798)ggC>ggG	p.G266G	FAM110C_ENST00000460464.1_5'Flank	NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN	family with sequence similarity 110, member C	266					positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell projection assembly (GO:0060491)	cell cortex (GO:0005938)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		CCTCGTCGTCGCCGCCGCTGT	0.662																																						ENST00000327669.4																			0				central_nervous_system(1)|kidney(1)|lung(2)	4						c.(796-798)ggC>ggG		family with sequence similarity 110, member C							16	22	20					2																	45588		2068	4201	6269	SO:0001819	synonymous_variant	642273					microtubule|microtubule organizing center|spindle pole		g.chr2:45588G>C	DQ431183	CCDS42645.1	2p25.3	2011-12-01			ENSG00000184731	ENSG00000184731			33340	protein-coding gene	gene with protein product		611395				17499476, 19698782	Standard	NM_001077710		Approved		uc010yim.2	Q1W6H9	OTTHUMG00000151321	ENST00000327669.4:c.798C>G	2.37:g.45588G>C							p.G266G	NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)	1	797	-	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)	266						Silent	SNP	ENST00000327669.4	37	c.798C>G	CCDS42645.1																																																																																				0.662	FAM110C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322220.1	NM_001077710		3	7	0	0	0	0.009096	0	3	7					C	45588	G	C	45588	2	2	79	1	0	0	0	0	0	0	0	1	5398	1074	38	4		4	FAM110C	2	45588	Silent	SNP	G	TCGA-DJ-A13X-01A-11D-A10S-08		45588	243153785	3	1800	9	2									
FAM110C	642273	broad.mit.edu	37	chr2	45589	45589	+	Missense_Mutation	SNP	C	C	A													cctgcagcccctcgtcgtcgCcgccgctgtgccgggagaag							TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr2:45589C>A	ENST00000327669.4	-	1	796	c.797G>T	c.(796-798)gGc>gTc	p.G266V	FAM110C_ENST00000460464.1_5'Flank	NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN	family with sequence similarity 110, member C	266					positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell projection assembly (GO:0060491)	cell cortex (GO:0005938)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		CTCGTCGTCGCCGCCGCTGTG	0.667																																						ENST00000327669.4																			0				central_nervous_system(1)|kidney(1)|lung(2)	4						c.(796-798)gGc>gTc		family with sequence similarity 110, member C							16	22	20					2																	45589		2071	4206	6277	SO:0001583	missense	642273					microtubule|microtubule organizing center|spindle pole		g.chr2:45589C>A	DQ431183	CCDS42645.1	2p25.3	2011-12-01			ENSG00000184731	ENSG00000184731			33340	protein-coding gene	gene with protein product		611395				17499476, 19698782	Standard	NM_001077710		Approved		uc010yim.2	Q1W6H9	OTTHUMG00000151321	ENST00000327669.4:c.797G>T	2.37:g.45589C>A	ENSP00000328347:p.Gly266Val						p.G266V	NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)	1	796	-	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)	266						Missense_Mutation	SNP	ENST00000327669.4	37	c.797G>T	CCDS42645.1	.	.	.	.	.	.	.	.	.	.	C	8.887	0.953062	0.18431	.	.	ENSG00000184731	ENST00000327669	T	0.32515	1.45	1.16	-1.85	0.07784	.	0.691204	0.14127	N	0.339629	T	0.30916	0.0780	L	0.29908	0.895	0.36477	D	0.867583	D	0.56521	0.976	D	0.63283	0.913	T	0.44467	-0.9326	10	0.66056	D	0.02	.	2.8312	0.05501	0.2507:0.5179:0.0:0.2314	.	266	Q1W6H9	F110C_HUMAN	V	266	ENSP00000328347:G266V	ENSP00000328347:G266V	G	-	2	0	FAM110C	35589	0.000000	0.05858	0.085000	0.20634	0.129000	0.20672	-0.261000	0.08694	-0.572000	0.06006	-0.467000	0.05162	GGC		0.667	FAM110C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322220.1	NM_001077710		3	7	1	0	0.004672	0.115264	0.005402	3	7					A	45589	C	A	45589	3	1	79	1	0	0	0	0	1	0	0	0	5398	739	26	4	176	4	FAM110C	2	45589	Missense_Mutation	SNP	C	TCGA-DJ-A13X-01A-11D-A10S-08	1	45589	243153784	4	1801	9	2									
AMZ1	155185	broad.mit.edu	37	chr7	2740235	2740235	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggccgaggcctacaacccGcagaggacgctcttctgcac	11	16	2	1			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr7:2740235G>A	ENST00000312371.4	+	2	518	c.150G>A	c.(148-150)ccG>ccA	p.P50P	AMZ1_ENST00000407112.1_Silent_p.P50P	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	50							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CCTACAACCCGCAGAGGACGC	0.662																																						ENST00000312371.4																			0				breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16						c.(148-150)ccG>ccA		archaelysin family metallopeptidase 1							111	119	116					7																	2740235		2203	4300	6503	SO:0001819	synonymous_variant	155185						metallopeptidase activity|zinc ion binding	g.chr7:2740235G>A	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"archaemetzincin-1"	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.150G>A	7.37:g.2740235G>A						AMZ1_ENST00000407112.1_Silent_p.P50P	p.P50P	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)	2	518	+		Ovarian(82;0.0779)	50					B3KRS0|Q8TF51	Silent	SNP	ENST00000312371.4	37	c.150G>A	CCDS34589.1																																																																																				0.662	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	NM_133463		7	253	0	0	0	0.058154	0	7	253					A	2740235	G	A	2740235	2	1	79	1	0	0	0	0	0	0	0	1	596	1074	38	1		1	AMZ1	7	2740235	Silent	SNP	G	TCGA-DJ-A13X-01A-11D-A10S-08		2740235	156398428	5	1802											
CCM2	83605	broad.mit.edu	37	chr7	45067320	45067320	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaatgcatagtagctgtcGgcagaggaggaaccagaatc	14	7	0	3			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr7:45067320G>A	ENST00000258781.6	+	2	179				CCM2_ENST00000541586.1_Intron|CCM2_ENST00000381112.3_Missense_Mutation_p.R6Q|CCM2_ENST00000474617.1_5'UTR|CCM2_ENST00000475551.1_5'UTR|CCM2_ENST00000461377.1_Intron|CCM2_ENST00000544363.1_Intron	NM_031443.3	NP_113631.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2						blood vessel endothelial cell differentiation (GO:0060837)|cell-cell junction organization (GO:0045216)|endothelial cell development (GO:0001885)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|integrin-mediated signaling pathway (GO:0007229)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|stress-activated MAPK cascade (GO:0051403)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)	cytoplasm (GO:0005737)|protein complex (GO:0043234)				NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						AGTAGCTGTCGGCAGAGGAGG	0.433																																						ENST00000381112.3																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(16-18)cGg>cAg		cerebral cavernous malformation 2							83	88	86					7																	45067320		2203	4300	6503	SO:0001627	intron_variant	83605				endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding	g.chr7:45067320G>A	BC004903	CCDS5500.1, CCDS34630.1, CCDS55108.1, CCDS55109.1	7p13	2014-09-17	2004-02-13	2004-02-18	ENSG00000136280	ENSG00000136280			21708	protein-coding gene	gene with protein product	"malcavernin"	607929	"chromosome 7 open reading frame 22"	C7orf22		9811928	Standard	NM_001029835		Approved	MGC4607	uc003tms.3	Q9BSQ5	OTTHUMG00000129246	ENST00000258781.6:c.31-10532G>A	7.37:g.45067320G>A						CCM2_ENST00000475551.1_5'UTR|CCM2_ENST00000474617.1_5'UTR|CCM2_ENST00000461377.1_Intron|CCM2_ENST00000258781.6_Intron|CCM2_ENST00000544363.1_Intron|CCM2_ENST00000541586.1_Intron	p.R6Q	NM_001029835.2	NP_001025006.1	Q9BSQ5	CCM2_HUMAN			1	696	+			0					A4D2L4|B3KUV0|D3DVL4|E9PDJ3|F5H0E1|F5H551|Q71RE5|Q8TAT4	Missense_Mutation	SNP	ENST00000258781.6	37	c.17G>A	CCDS5500.1	.	.	.	.	.	.	.	.	.	.	G	6.664	0.490964	0.12702	.	.	ENSG00000136280	ENST00000381112	T	0.47869	0.83	3.87	-4.0	0.04057	.	.	.	.	.	T	0.26738	0.0654	N	0.24115	0.695	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.0;0.0;0.001	T	0.20140	-1.0284	9	0.87932	D	0	0.0651	2.9908	0.05982	0.5413:0.1277:0.2015:0.1295	.	6;6;6	B7Z5A6;B7Z8D5;E9PDJ3	.;.;.	Q	6	ENSP00000370503:R6Q	ENSP00000370503:R6Q	R	+	2	0	CCM2	45033845	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.916000	0.04029	-1.015000	0.03375	-0.808000	0.03180	CGG		0.433	CCM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251348.1	NM_031443		16	67	0	0	0	0.038395	0	16	67					A	45067320	G	A	45067320	1	1	79	0	1	0	0	0	0	0	0	0	2908	1116	39	1		1	CCM2	7	45067320	Intron	SNP	G	TCGA-DJ-A13X-01A-11D-A10S-08	42327085	45067320	114071343	6	1803											
SRRT	51593	broad.mit.edu	37	chr7	100482086	100482086	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aagcctggggagcccagcaaGaaagaagaaggacgggctgg	17	8	0	3	rs376597506		TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr7:100482086G>C	ENST00000347433.4	+	7	1013	c.855G>C	c.(853-855)aaG>aaC	p.K285N	SRRT_ENST00000457580.2_Missense_Mutation_p.K285N|SRRT_ENST00000388793.4_Missense_Mutation_p.K285N|SRRT_ENST00000432932.1_Missense_Mutation_p.K285N			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	285	Glu-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AGCCCAGCAAGAAAGAAGAAG	0.592																																						ENST00000388793.4																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(853-855)aaG>aaC		serrate RNA effector molecule homolog (Arabidopsis)							43	44	44					7																	100482086		2202	4299	6501	SO:0001583	missense	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100482086G>C		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"arsenite resistance protein"	614469	"serrate RNA effector molecule homolog (Arabidopsis)"			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.855G>C	7.37:g.100482086G>C	ENSP00000314491:p.Lys285Asn					SRRT_ENST00000432932.1_Missense_Mutation_p.K285N|SRRT_ENST00000457580.2_Missense_Mutation_p.K285N|SRRT_ENST00000347433.4_Missense_Mutation_p.K285N	p.K285N	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN			7	1075	+			285			Glu-rich.		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	ENST00000347433.4	37	c.855G>C	CCDS34709.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.270016	0.23221	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000432932;ENST00000347433	T;T	0.17213	2.29;2.29	4.06	3.17	0.36434	.	0.062949	0.64402	D	0.000012	T	0.08088	0.0202	N	0.17082	0.46	0.53688	D	0.999972	P;P;P;B	0.36535	0.557;0.557;0.557;0.421	B;B;B;B	0.32864	0.154;0.154;0.154;0.074	T	0.21930	-1.0231	10	0.25751	T	0.34	.	7.0025	0.24817	0.1227:0.0:0.8773:0.0	.	285;285;285;285	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	N	285	ENSP00000416553:K285N;ENSP00000314491:K285N	ENSP00000314491:K285N	K	+	3	2	SRRT	100320022	1.000000	0.71417	1.000000	0.80357	0.153000	0.21895	1.936000	0.40183	2.281000	0.76405	0.491000	0.48974	AAG		0.592	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		3	32	0	0	0	0.115264	0	3	32					C	100482086	G	C	100482086	3	2	79	1	0	0	0	0	1	0	0	0	15171	933	33	4	877	4	SRRT	7	100482086	Missense_Mutation	SNP	G	TCGA-DJ-A13X-01A-11D-A10S-08	55414766	100482086	58656577	7	1804											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		34	54	0	0	0	0.069456	0	34	54					T	140453136	A	T	140453136	3	4	79	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A13X-01A-11D-A10S-08	39971050	140453136	18685527	8	1805											
OR13F1	138805	broad.mit.edu	37	chr9	107267379	107267379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttatggctttggtgtatgCcggacaaacccccatgttga	10	9	0	1			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr9:107267379C>T	ENST00000334726.2	+	1	925	c.836C>T	c.(835-837)gCc>gTc	p.A279V		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TTGGTGTATGCCGGACAAACC	0.418																																						ENST00000334726.2																			0				endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(835-837)gCc>gTc		olfactory receptor, family 13, subfamily F, member 1							74	73	74					9																	107267379		2203	4300	6503	SO:0001583	missense	138805				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107267379C>T		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"GPCR / Class A : Olfactory receptors"	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.836C>T	9.37:g.107267379C>T	ENSP00000334452:p.Ala279Val						p.A279V	NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN			1	925	+			279					Q6IF50	Missense_Mutation	SNP	ENST00000334726.2	37	c.836C>T	CCDS35087.1	.	.	.	.	.	.	.	.	.	.	C	8.314	0.822838	0.16678	.	.	ENSG00000186881	ENST00000334726	T	0.00063	8.78	4.3	2.44	0.29823	GPCR, rhodopsin-like superfamily (1);	1.231740	0.05909	N	0.631330	T	0.00210	0.0006	L	0.45137	1.4	0.09310	N	1	B	0.18013	0.025	B	0.26770	0.073	T	0.49418	-0.8942	10	0.72032	D	0.01	.	12.8128	0.57649	0.0:0.6638:0.3362:0.0	.	279	Q8NGS4	O13F1_HUMAN	V	279	ENSP00000334452:A279V	ENSP00000334452:A279V	A	+	2	0	OR13F1	106307200	0.000000	0.05858	0.501000	0.27601	0.197000	0.23852	0.950000	0.29122	0.740000	0.32651	0.655000	0.94253	GCC		0.418	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1			4	93	0	0	0	0.009096	0	4	93					T	107267379	C	T	107267379	3	4	79	1	0	0	0	0	1	0	0	0	10941	739	26	2	838	2	OR13F1	9	107267379	Missense_Mutation	SNP	C	TCGA-DJ-A13X-01A-11D-A10S-08		107267379	33946052	9	1806											
C9orf7	11094	broad.mit.edu	37	chr9	136333684	136333684	+	Splice_Site	DEL	G	G	-													gctgcctctctctctccccaGgggcgatgcgatctcctatg							TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr9:136333684delG	ENST00000316948.4	+	5	508		c.e5-1		CACFD1_ENST00000291722.7_Splice_Site|CACFD1_ENST00000540581.1_Splice_Site|SLC2A6_ENST00000485978.1_5'Flank|CACFD1_ENST00000542192.1_Splice_Site	NM_017586.3	NP_060056.1	Q9UGQ2	FLOWR_HUMAN	calcium channel flower domain containing 1						synaptic vesicle endocytosis (GO:0048488)	integral component of synaptic vesicle membrane (GO:0030285)	calcium channel activity (GO:0005262)										TCTCTCCCCAGGGGCGATGCG	0.667																																						ENST00000316948.4																			0											c.e5-1		calcium channel flower domain containing 1							30	32	31					9																	136333684		2198	4287	6485	SO:0001630	splice_region_variant	11094					integral to membrane		g.chr9:136333684delG		CCDS6974.1, CCDS48051.1, CCDS56591.1, CCDS56592.1	9q34	2012-03-06	2012-03-06	2012-03-06	ENSG00000160325	ENSG00000160325			1365	protein-coding gene	gene with protein product		613104	"chromosome 9 open reading frame 7"	C9orf7		19737521	Standard	NM_001242370		Approved	D9S2135, flower	uc011mdh.1	Q9UGQ2	OTTHUMG00000020875	ENST00000316948.4:c.429-1G>-	9.37:g.136333684delG						CACFD1_ENST00000542192.1_Splice_Site|CACFD1_ENST00000291722.7_Splice_Site|CACFD1_ENST00000540581.1_Splice_Site		NM_017586.3	NP_060056.1	Q9UGQ2	FLOWR_HUMAN			5	508	+								B7Z3T8|B7Z5E1|F5GXX4|Q5SXD4|Q8NBM6	Splice_Site	DEL	ENST00000316948.4	37		CCDS6974.1																																																																																				0.667	CACFD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054915.1	NM_017586	Intron	2	4						2	4	---	---	---	---	-	136333684	G	-	136333684	8	5	79	1	0	1	0	1	0	0	1	0	2493	1014	35	0	446	0	C9orf7	9	136333684	Splice_Site	DEL	G	TCGA-DJ-A13X-01A-11D-A10S-08	29066305	136333684	4879747	10	1807											
HKDC1	80201	broad.mit.edu	37	chr10	71010063	71010063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagaaaggaaagtttctcGccctggatcttgggggaacc	13	9	2	1	rs148336562	byFrequency	TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr10:71010063G>A	ENST00000354624.5	+	11	1721	c.1588G>A	c.(1588-1590)Gcc>Acc	p.A530T	HKDC1_ENST00000395086.2_Missense_Mutation_p.A530T	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	530	Hexokinase type-1 2.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						AAAGTTTCTCGCCCTGGATCT	0.547													G|||	2	0.000399361	0.0015	0	5008	,	,		20001	0		0	False		,,,				2504	0					ENST00000354624.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1588-1590)Gcc>Acc		hexokinase domain containing 1							143	152	149					10																	71010063		2203	4300	6503	SO:0001583	missense	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:71010063G>A		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.1588G>A	10.37:g.71010063G>A	ENSP00000346643:p.Ala530Thr					HKDC1_ENST00000395086.2_Missense_Mutation_p.A530T	p.A530T	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN			11	1721	+			530					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	c.1588G>A	CCDS7288.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	25.7	4.660770	0.88154	.	.	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.99527	-6.09;-6.09	5.2	5.2	0.72013	Hexokinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99635	0.9866	M	0.90922	3.16	0.58432	D	0.999993	D	0.76494	0.999	D	0.85130	0.997	D	0.97962	1.0338	10	0.87932	D	0	-24.7869	18.9131	0.92493	0.0:0.0:1.0:0.0	.	530	Q2TB90	HKDC1_HUMAN	T	530	ENSP00000346643:A530T;ENSP00000378521:A530T	ENSP00000346643:A530T	A	+	1	0	HKDC1	70680069	1.000000	0.71417	0.965000	0.40720	0.855000	0.48748	5.575000	0.67430	2.704000	0.92352	0.561000	0.74099	GCC		0.547	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		10	277	0	0	0	0.058154	0	10	277					A	71010063	G	A	71010063	3	1	79	1	0	0	0	0	1	0	0	0	7193	1087	38	1	1630	1	HKDC1	10	71010063	Missense_Mutation	SNP	G	TCGA-DJ-A13X-01A-11D-A10S-08		71010063	64524684	11	1808											
GRID1	2894	broad.mit.edu	37	chr10	87407024	87407024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgttcttgctgatggtccGccagagttcagcaaacgtgc	11	12	2	2	rs377669879		TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr10:87407024G>A	ENST00000327946.7	-	13	2213	c.2128C>T	c.(2128-2130)Cgg>Tgg	p.R710W	RP11-93H12.4_ENST00000474115.2_RNA|GRID1_ENST00000536331.1_Missense_Mutation_p.R281W|RN7SKP238_ENST00000516483.1_RNA	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	710					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CTGATGGTCCGCCAGAGTTCA	0.572										Multiple Myeloma(13;0.14)			G|||	1	0.000199681	0	0	5008	,	,		20898	0		0	False		,,,				2504	0.001					ENST00000327946.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(2128-2130)Cgg>Tgg		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)	G	TRP/ARG	0,4406		0,0,2203	257	236	243		2128	-5.4	0.9	10		243	2,8598	2.2+/-6.3	0,2,4298	no	missense	GRID1	NM_017551.2	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	710/1010	87407024	2,13004	2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87407024G>A	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2128C>T	10.37:g.87407024G>A	ENSP00000330148:p.Arg710Trp	Multiple Myeloma(13;0.14)				RP11-93H12.4_ENST00000474115.2_RNA|GRID1_ENST00000536331.1_Missense_Mutation_p.R281W	p.R710W	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN			13	2213	-			710					B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.2128C>T	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182564	0.78677	0.0	2.33E-4	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.26957	1.7;1.7	5.7	-5.39	0.02664	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.143577	0.64402	D	0.000010	T	0.40196	0.1107	M	0.85777	2.775	0.80722	D	1	D	0.57899	0.981	P	0.49887	0.625	T	0.61898	-0.6968	10	0.72032	D	0.01	.	19.1965	0.93691	0.0:0.0:0.6216:0.3784	.	710	Q9ULK0	GRID1_HUMAN	W	710;281	ENSP00000330148:R710W;ENSP00000444455:R281W	ENSP00000330148:R710W	R	-	1	2	GRID1	87397004	1.000000	0.71417	0.902000	0.35471	0.939000	0.58152	1.430000	0.34914	-1.166000	0.02783	-0.271000	0.10264	CGG		0.572	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		6	434	0	0	0	0.021553	0	6	434					A	87407024	G	A	87407024	3	1	79	1	0	0	0	0	1	0	0	0	6771	1086	38	1	917	1	GRID1	10	87407024	Missense_Mutation	SNP	G	TCGA-DJ-A13X-01A-11D-A10S-08	16396961	87407024	48127723	12	1809											
GANAB	23193	broad.mit.edu	37	chr11	62396401	62396401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccaagtgggcatgtgcccGgaagaatggctggtaagcac	15	9	0	1			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr11:62396401G>A	ENST00000356638.3	-	17	2036	c.2020C>T	c.(2020-2022)Cgg>Tgg	p.R674W	GANAB_ENST00000346178.4_Missense_Mutation_p.R696W|GANAB_ENST00000540933.1_Missense_Mutation_p.R577W|GANAB_ENST00000534779.1_Missense_Mutation_p.R582W	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	674					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	GCATGTGCCCGGAAGAATGGC	0.542																																					Melanoma(23;1005 1074 15747 18937)	ENST00000346178.4																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						c.(2086-2088)Cgg>Tgg		glucosidase, alpha; neutral AB							132	128	129					11																	62396401		2202	4299	6501	SO:0001583	missense	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62396401G>A	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.2020C>T	11.37:g.62396401G>A	ENSP00000349053:p.Arg674Trp					GANAB_ENST00000356638.3_Missense_Mutation_p.R674W|GANAB_ENST00000540933.1_Missense_Mutation_p.R577W|GANAB_ENST00000534779.1_Missense_Mutation_p.R582W	p.R696W	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN			18	2101	-			674					A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	37	c.2086C>T	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304526	0.60305	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.95377	-3.69;-3.69;-3.69;-3.69	5.19	3.02	0.34903	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98576	0.9524	H	0.99117	4.435	0.80722	D	1	D;D;D;D	0.76494	0.997;0.997;0.999;0.998	D;D;D;D	0.72625	0.978;0.967;0.978;0.962	D	0.98391	1.0563	10	0.87932	D	0	-16.0623	11.782	0.52020	0.0:0.0:0.6153:0.3847	.	560;582;674;696	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	W	696;674;582;577	ENSP00000340466:R696W;ENSP00000349053:R674W;ENSP00000435306:R582W;ENSP00000442962:R577W	ENSP00000340466:R696W	R	-	1	2	GANAB	62152977	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.232000	0.43018	1.252000	0.44001	0.655000	0.94253	CGG		0.542	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		4	225	0	0	0	0.009096	0	4	225					A	62396401	G	A	62396401	3	1	79	1	0	0	0	0	1	0	0	0	6233	1115	39	1	846	1	GANAB	11	62396401	Missense_Mutation	SNP	G	TCGA-DJ-A13X-01A-11D-A10S-08		62396401	72610115	13	1810											
TRPC4	7223	broad.mit.edu	37	chr13	38357319	38357319	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aaatttcagcttcctctaggGatttcttgacactggcataa	7	9	3	1			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr13:38357319G>T	ENST00000379705.3	-	2	1009	c.152C>A	c.(151-153)tCc>tAc	p.S51Y	TRPC4_ENST00000447043.1_Missense_Mutation_p.S51Y|TRPC4_ENST00000379679.1_Missense_Mutation_p.S51Y|TRPC4_ENST00000379681.3_Missense_Mutation_p.S51Y|TRPC4_ENST00000338947.5_Missense_Mutation_p.S51Y|TRPC4_ENST00000358477.2_Missense_Mutation_p.S51Y|TRPC4_ENST00000355779.2_Missense_Mutation_p.S51Y|TRPC4_ENST00000426868.2_Missense_Mutation_p.S51Y|TRPC4_ENST00000379673.2_Missense_Mutation_p.S51Y			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	51					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTCCTCTAGGGATTTCTTGAC	0.388																																						ENST00000379705.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(151-153)tCc>tAc		transient receptor potential cation channel, subfamily C, member 4							150	153	152					13																	38357319		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38357319G>T	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.152C>A	13.37:g.38357319G>T	ENSP00000369027:p.Ser51Tyr					TRPC4_ENST00000426868.2_Missense_Mutation_p.S51Y|TRPC4_ENST00000358477.2_Missense_Mutation_p.S51Y|TRPC4_ENST00000379673.2_Missense_Mutation_p.S51Y|TRPC4_ENST00000447043.1_Missense_Mutation_p.S51Y|TRPC4_ENST00000338947.5_Missense_Mutation_p.S51Y|TRPC4_ENST00000379679.1_Missense_Mutation_p.S51Y|TRPC4_ENST00000379681.3_Missense_Mutation_p.S51Y|TRPC4_ENST00000355779.2_Missense_Mutation_p.S51Y	p.S51Y			Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	2	1009	-			51					B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.152C>A	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019526	0.54576	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07	6.01	6.01	0.97437	Ankyrin repeat-containing domain (3);	0.145327	0.64402	D	0.000010	T	0.54498	0.1862	N	0.11427	0.14	0.51233	D	0.99991	B;B;P;P;B;B	0.47191	0.27;0.288;0.891;0.891;0.27;0.316	B;B;P;P;B;B	0.48141	0.185;0.189;0.568;0.568;0.345;0.255	T	0.54410	-0.8298	10	0.32370	T	0.25	-14.1765	20.5211	0.99222	0.0:0.0:1.0:0.0	.	51;51;51;51;51;51	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	Y	51	ENSP00000369027:S51Y;ENSP00000369003:S51Y;ENSP00000342580:S51Y;ENSP00000369001:S51Y;ENSP00000410133:S51Y;ENSP00000348025:S51Y;ENSP00000351264:S51Y;ENSP00000368995:S51Y;ENSP00000414316:S51Y	ENSP00000342580:S51Y	S	-	2	0	TRPC4	37255319	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.869000	0.99810	2.861000	0.98227	0.650000	0.86243	TCC		0.388	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		6	229	1	0	0.00307968	0.038147	0.00367575	6	229					T	38357319	G	T	38357319	3	4	79	1	0	0	0	0	1	0	0	0	16577	1174	41	4	2836	4	TRPC4	13	38357319	Missense_Mutation	SNP	G	TCGA-DJ-A13X-01A-11D-A10S-08		38357319	76812559	14	1811											
JUB	84962	broad.mit.edu	37	chr14	23445885	23445885	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcacagtacacagagccaTtgacactgtagaaagccttg	8	12	1	3			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr14:23445885T>C	ENST00000262713.2	-	3	1520	c.1145A>G	c.(1144-1146)aAt>aGt	p.N382S	AJUBA_ENST00000361265.4_Missense_Mutation_p.N382S|RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000397388.3_5'UTR	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	382	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										CACAGAGCCATTGACACTGTA	0.512																																						ENST00000262713.2																			0											c.(1144-1146)aAt>aGt		ajuba LIM protein							153	139	144					14																	23445885		2203	4300	6503	SO:0001583	missense	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23445885T>C	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"jub, ajuba homolog (Xenopus laevis)"	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1145A>G	14.37:g.23445885T>C	ENSP00000262713:p.Asn382Ser					AJUBA_ENST00000361265.4_Missense_Mutation_p.N382S|RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000397388.3_5'UTR	p.N382S	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN			3	1520	-			382			LIM zinc-binding 1.		A8MX18|D3DS37	Missense_Mutation	SNP	ENST00000262713.2	37	c.1145A>G	CCDS9581.1	.	.	.	.	.	.	.	.	.	.	T	18.71	3.682069	0.68042	.	.	ENSG00000129474	ENST00000262713;ENST00000361265	D;D	0.87966	-2.32;-2.32	5.74	5.74	0.90152	Zinc finger, LIM-type (4);	0.060878	0.64402	D	0.000008	D	0.86234	0.5884	L	0.42744	1.35	0.52501	D	0.99995	B	0.30021	0.265	B	0.40009	0.316	D	0.85399	0.1130	10	0.56958	D	0.05	.	13.9942	0.64386	0.0:0.0:0.0:1.0	.	382	Q96IF1	JUB_HUMAN	S	382	ENSP00000262713:N382S;ENSP00000354491:N382S	ENSP00000262713:N382S	N	-	2	0	JUB	22515725	1.000000	0.71417	0.953000	0.39169	0.901000	0.52897	5.556000	0.67307	2.192000	0.70111	0.533000	0.62120	AAT		0.512	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			3	139	0	0	0	0.115264	0	3	139					C	23445885	T	C	23445885	3	2	79	1	0	0	0	0	1	0	0	0	7968	1493	52	3	495	3	JUB	14	23445885	Missense_Mutation	SNP	T	TCGA-DJ-A13X-01A-11D-A10S-08		23445885	83903655	15	1812											
ALKBH1	8846	broad.mit.edu	37	chr14	78142152	78142152	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgctctgagaggaaacccAggtcagaagggaaaggtgtg	15	7	2	2			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr14:78142152A>G	ENST00000216489.3	-	5	602	c.587T>C	c.(586-588)cTg>cCg	p.L196P		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	196					developmental growth (GO:0048589)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|in utero embryonic development (GO:0001701)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|oxidative demethylation (GO:0070989)|placenta development (GO:0001890)|RNA repair (GO:0042245)	mitochondrion (GO:0005739)|nuclear euchromatin (GO:0005719)	chemoattractant activity (GO:0042056)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GAGGAAACCCAGGTCAGAAGG	0.448																																						ENST00000216489.3																			0				endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						c.(586-588)cTg>cCg		alkB, alkylation repair homolog 1 (E. coli)							92	93	93					14																	78142152		2203	4300	6503	SO:0001583	missense	8846				DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr14:78142152A>G	X91992	CCDS32127.1	14q24	2014-07-23	2006-02-09	2006-02-09	ENSG00000100601	ENSG00000100601		"Alkylation repair homologs"	17911	protein-coding gene	gene with protein product		605345	"alkB, alkylation repair homolog (E. coli)"	ALKBH		8600462	Standard	XM_005268165		Approved	hABH, alkB, ABH	uc001xuc.1	Q13686	OTTHUMG00000171542	ENST00000216489.3:c.587T>C	14.37:g.78142152A>G	ENSP00000216489:p.Leu196Pro						p.L196P	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	5	602	-			196					Q8TAU1|Q9ULA7	Missense_Mutation	SNP	ENST00000216489.3	37	c.587T>C	CCDS32127.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.673531	0.88445	.	.	ENSG00000100601	ENST00000216489	T	0.19669	2.13	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.56124	0.1964	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64993	-0.6276	10	0.87932	D	0	-22.3694	16.8222	0.85835	1.0:0.0:0.0:0.0	.	196	Q13686	ALKB1_HUMAN	P	196	ENSP00000216489:L196P	ENSP00000216489:L196P	L	-	2	0	ALKBH1	77211905	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.842000	0.92136	2.371000	0.80710	0.533000	0.62120	CTG		0.448	ALKBH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414037.1	NM_006020		3	91	0	0	0	0.115264	0	3	91					G	78142152	A	G	78142152	3	3	79	1	0	0	0	0	1	0	0	0	526	188	7	3	590	3	ALKBH1	14	78142152	Missense_Mutation	SNP	A	TCGA-DJ-A13X-01A-11D-A10S-08	54696267	78142152	29207388	16	1813											
MYO1E	4643	broad.mit.edu	37	chr15	59510196	59510196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggatggattcggatttgCctccccacttgctatccatc	9	13	0	0			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr15:59510196C>T	ENST00000288235.4	-	10	1400	c.1001G>A	c.(1000-1002)gGc>gAc	p.G334D	AC092756.1_ENST00000401164.1_RNA	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	334	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		TTCGGATTTGCCTCCCCACTT	0.527																																						ENST00000288235.4																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33						c.(1000-1002)gGc>gAc		myosin IE							187	169	175					15																	59510196		2190	4290	6480	SO:0001583	missense	4643				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	g.chr15:59510196C>T	U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"Myosins / Myosin superfamily : Class I"	7599	protein-coding gene	gene with protein product	"myosin-IC"	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.1001G>A	15.37:g.59510196C>T	ENSP00000288235:p.Gly334Asp						p.G334D	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN		all cancers(107;0.207)	10	1400	-			334			Myosin head-like.		Q14778	Missense_Mutation	SNP	ENST00000288235.4	37	c.1001G>A	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937233	0.73557	.	.	ENSG00000157483	ENST00000288235	D	0.87412	-2.25	4.69	4.69	0.59074	Myosin head, motor domain (2);	0.205050	0.52532	D	0.000065	D	0.94006	0.8080	M	0.91406	3.205	0.54753	D	0.999989	P	0.37158	0.585	P	0.52386	0.697	D	0.94914	0.8067	10	0.66056	D	0.02	.	17.8209	0.88650	0.0:1.0:0.0:0.0	.	334	Q12965	MYO1E_HUMAN	D	334	ENSP00000288235:G334D	ENSP00000288235:G334D	G	-	2	0	MYO1E	57297488	1.000000	0.71417	0.998000	0.56505	0.891000	0.51852	3.744000	0.55112	2.437000	0.82529	0.462000	0.41574	GGC		0.527	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998		8	194	0	0	0	0.058154	0	8	194					T	59510196	C	T	59510196	3	4	79	1	0	0	0	0	1	0	0	0	10072	739	26	2	2401	2	MYO1E	15	59510196	Missense_Mutation	SNP	C	TCGA-DJ-A13X-01A-11D-A10S-08		59510196	43021196	17	1814											
ACSM2A	123876	broad.mit.edu	37	chr16	20491997	20491997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttccagtttatgggacggGcaaatgatatcattaactcc	8	8	1	1	rs141811117	byFrequency	TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr16:20491997G>A	ENST00000573854.1	+	11	1498	c.1384G>A	c.(1384-1386)Gca>Aca	p.A462T	ACSM2A_ENST00000219054.6_Missense_Mutation_p.A462T|ACSM2A_ENST00000575690.1_Missense_Mutation_p.A462T|ACSM2A_ENST00000396104.2_Missense_Mutation_p.A462T|ACSM2A_ENST00000417235.2_Missense_Mutation_p.A383T|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_Missense_Mutation_p.A234T	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	462					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TATGGGACGGGCAAATGATAT	0.498																																						ENST00000573854.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						c.(1384-1386)Gca>Aca		acyl-CoA synthetase medium-chain family member 2A							17	40	32					16																	20491997		2101	4117	6218	SO:0001583	missense	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20491997G>A	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"Acyl-CoA synthetase family"	32017	protein-coding gene	gene with protein product		614358	"acyl-CoA synthetase medium-chain family member 2"	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1384G>A	16.37:g.20491997G>A	ENSP00000459451:p.Ala462Thr					ACSM2A_ENST00000536134.1_Missense_Mutation_p.A234T|ACSM2A_ENST00000575690.1_Missense_Mutation_p.A462T|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000219054.6_Missense_Mutation_p.A462T|ACSM2A_ENST00000396104.2_Missense_Mutation_p.A462T|ACSM2A_ENST00000417235.2_Missense_Mutation_p.A383T	p.A462T	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN			11	1498	+			462					B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	c.1384G>A	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	G	4.949	0.176243	0.09443	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	3.16	-4.79	0.03200	AMP-dependent synthetase/ligase (1);	1.872860	0.03641	N	0.239446	T	0.29288	0.0729	L	0.39633	1.23	0.20764	N	0.99986	B;B	0.19817	0.022;0.039	B;B	0.20577	0.03;0.02	T	0.09662	-1.0664	10	0.28530	T	0.3	1.768	3.5519	0.07850	0.3498:0.0:0.2574:0.3928	.	383;462	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	T	383;462;234;462	ENSP00000392169:A383T;ENSP00000219054:A462T;ENSP00000445082:A234T;ENSP00000379411:A462T	ENSP00000219054:A462T	A	+	1	0	ACSM2A	20399498	0.000000	0.05858	0.065000	0.19835	0.574000	0.36063	-0.978000	0.03778	-1.362000	0.02166	0.289000	0.19496	GCA		0.498	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		4	160	0	0	0	0.009096	0	4	160					A	20491997	G	A	20491997	3	1	79	1	0	0	0	0	1	0	0	0	183	1203	42	2	1422	2	ACSM2A	16	20491997	Missense_Mutation	SNP	G	TCGA-DJ-A13X-01A-11D-A10S-08		20491997	69862756	18	1815											
SRCAP	10847	broad.mit.edu	37	chr16	30715587	30715587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgacctggctaacaaggGcccgaagtgggagaagagcc	15	10	0	3			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr16:30715587G>A	ENST00000262518.4	+	4	642	c.257G>A	c.(256-258)gGc>gAc	p.G86D	SRCAP_ENST00000395059.2_Missense_Mutation_p.G86D|RNU6-1043P_ENST00000410355.1_RNA|SRCAP_ENST00000344771.4_Missense_Mutation_p.G86D	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	86					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCTAACAAGGGCCCGAAGTGG	0.537																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(256-258)gGc>gAc		Snf2-related CREBBP activator protein							102	102	102					16																	30715587		1904	4123	6027	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30715587G>A	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.257G>A	16.37:g.30715587G>A	ENSP00000262518:p.Gly86Asp					SRCAP_ENST00000395059.2_Missense_Mutation_p.G86D|SRCAP_ENST00000344771.4_Missense_Mutation_p.G86D	p.G86D	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		4	642	+			86					B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.257G>A	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	12.59	1.982400	0.34942	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	T;T;T	0.76316	-1.01;-1.01;-1.01	4.95	4.95	0.65309	.	0.000000	0.51477	D	0.000089	T	0.60753	0.2293	N	0.08118	0	0.40749	D	0.982902	P	0.37015	0.578	B	0.36186	0.219	T	0.64980	-0.6279	10	0.33940	T	0.23	-2.5736	15.7294	0.77790	0.0:0.0:1.0:0.0	.	86	Q6ZRS2	SRCAP_HUMAN	D	86	ENSP00000262518:G86D;ENSP00000378499:G86D;ENSP00000343042:G86D	ENSP00000262518:G86D	G	+	2	0	SRCAP	30623088	1.000000	0.71417	0.991000	0.47740	0.828000	0.46876	2.689000	0.46993	2.582000	0.87167	0.650000	0.86243	GGC		0.537	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		9	203	0	0	0	0.069234	0	9	203					A	30715587	G	A	30715587	3	1	79	1	0	0	0	0	1	0	0	0	15134	1203	42	2	263	2	SRCAP	16	30715587	Missense_Mutation	SNP	G	TCGA-DJ-A13X-01A-11D-A10S-08	10223590	30715587	59639166	19	1816											
C16orf86	388284	broad.mit.edu	37	chr16	67701334	67701334	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccaagctgggggaggagcggCccaagccgcatgccggggcg	19	13	0	0			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr16:67701334C>G	ENST00000403458.4	+	2	393	c.238C>G	c.(238-240)Ccc>Gcc	p.P80A	C16orf86_ENST00000602974.1_Intron|ENKD1_ENST00000602644.1_5'Flank|ENKD1_ENST00000602409.1_5'Flank|ENKD1_ENST00000243878.4_5'Flank	NM_001012984.2	NP_001013002.2	Q6ZW13	CP086_HUMAN	chromosome 16 open reading frame 86	80										endometrium(2)|lung(4)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GGAGGAGCGGCCCAAGCCGCA	0.667																																						ENST00000403458.4																			0				endometrium(2)|lung(4)	6						c.(238-240)Ccc>Gcc		chromosome 16 open reading frame 86							11	15	14					16																	67701334		2152	4249	6401	SO:0001583	missense	388284							g.chr16:67701334C>G		CCDS32468.2	16q22.1	2008-10-30			ENSG00000159761	ENSG00000159761			33755	protein-coding gene	gene with protein product							Standard	NM_001012984		Approved	FLJ41802	uc002ety.3	Q6ZW13	OTTHUMG00000150527	ENST00000403458.4:c.238C>G	16.37:g.67701334C>G	ENSP00000384117:p.Pro80Ala					C16orf86_ENST00000602974.1_Intron	p.P80A	NM_001012984.2	NP_001013002.2	Q6ZW13	CP086_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	2	393	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	80					B5MCW6	Missense_Mutation	SNP	ENST00000403458.4	37	c.238C>G	CCDS32468.2	.	.	.	.	.	.	.	.	.	.	C	12.12	1.841270	0.32513	.	.	ENSG00000159761	ENST00000403458	.	.	.	5.15	0.741	0.18336	.	.	.	.	.	T	0.25005	0.0607	N	0.14661	0.345	0.09310	N	1	B	0.20780	0.048	B	0.19148	0.024	T	0.19321	-1.0309	8	0.44086	T	0.13	-2.0092	9.5134	0.39091	0.148:0.4284:0.4236:0.0	.	80	Q6ZW13	CP086_HUMAN	A	80	.	ENSP00000384117:P80A	P	+	1	0	C16orf86	66258835	0.001000	0.12720	0.000000	0.03702	0.149000	0.21700	1.019000	0.30014	0.025000	0.15241	0.563000	0.77884	CCC		0.667	C16orf86-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318767.2	NM_001012984		3	19	0	0	0	0.014758	0	3	19					G	67701334	C	G	67701334	3	3	79	1	0	0	0	0	1	0	0	0	1839	739	26	4	244	4	C16orf86	16	67701334	Missense_Mutation	SNP	C	TCGA-DJ-A13X-01A-11D-A10S-08	36985747	67701334	22653419	20	1817											
NFIC	4782	broad.mit.edu	37	chr19	3452590	3452590	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cggccatccgctacccacctCatctcaacccccaggacccg	6	22	2	0			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr19:3452590C>T	ENST00000443272.2	+	8	1246	c.1195C>T	c.(1195-1197)Cat>Tat	p.H399Y	NFIC_ENST00000346156.5_Missense_Mutation_p.H366Y|NFIC_ENST00000395111.3_Missense_Mutation_p.H390Y|NFIC_ENST00000590282.1_Missense_Mutation_p.H399Y|NFIC_ENST00000589123.1_Missense_Mutation_p.H390Y|NFIC_ENST00000341919.3_Missense_Mutation_p.H399Y|NFIC_ENST00000586919.1_Missense_Mutation_p.H366Y	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	399					DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)	core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CTACCCACCTCATCTCAACCC	0.657																																						ENST00000589123.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(1168-1170)Cat>Tat		nuclear factor I/C (CCAAT-binding transcription factor)							169	146	154					19																	3452590		2203	4300	6503	SO:0001583	missense	4782				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:3452590C>T	X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905			7786	protein-coding gene	gene with protein product		600729		NFI		3398920, 7590749	Standard	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000443272.2:c.1195C>T	19.37:g.3452590C>T	ENSP00000396843:p.His399Tyr					NFIC_ENST00000346156.5_Missense_Mutation_p.H366Y|NFIC_ENST00000341919.3_Missense_Mutation_p.H399Y|NFIC_ENST00000590282.1_Missense_Mutation_p.H399Y|NFIC_ENST00000395111.3_Missense_Mutation_p.H390Y|NFIC_ENST00000586919.1_Missense_Mutation_p.H366Y|NFIC_ENST00000443272.2_Missense_Mutation_p.H399Y	p.H390Y	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)	8	1288	+		Hepatocellular(1079;0.137)	399					A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Missense_Mutation	SNP	ENST00000443272.2	37	c.1168C>T	CCDS59330.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.393707	0.83011	.	.	ENSG00000141905	ENST00000443272;ENST00000395111;ENST00000346156;ENST00000341919;ENST00000343825;ENST00000269778	T;T;T	0.52754	0.65;0.65;0.65	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.66655	0.2811	M	0.70595	2.14	0.49582	D	0.999808	D;D;D;D;D	0.69078	0.997;0.997;0.996;0.996;0.996	D;D;D;D;D	0.79108	0.992;0.992;0.986;0.986;0.986	T	0.70281	-0.4915	10	0.52906	T	0.07	.	15.0657	0.71992	0.0:1.0:0.0:0.0	.	399;399;390;399;390	B7Z4U5;P08651;P08651-3;P08651-5;P08651-2	.;NFIC_HUMAN;.;.;.	Y	390;390;366;399;399;399	ENSP00000378543:H390Y;ENSP00000301935:H366Y;ENSP00000342194:H399Y	ENSP00000269778:H399Y	H	+	1	0	NFIC	3403590	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.282000	0.78630	1.874000	0.54306	0.555000	0.69702	CAT		0.657	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452834.1	NM_005597		6	253	0	0	0	0.02938	0	6	253					T	3452590	C	T	3452590	3	4	79	1	0	0	0	0	1	0	0	0	10372	826	29	2	1232	2	NFIC	19	3452590	Missense_Mutation	SNP	C	TCGA-DJ-A13X-01A-11D-A10S-08		3452590	55676393	21	1818											
ZNF83	55769	broad.mit.edu	37	chr19	53116715	53116715	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttataaggtttctcaccgGcatgaattatcagatgttgg	9	7	2	2			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr19:53116715G>A	ENST00000597597.1	-	2	3356	c.1103C>T	c.(1102-1104)gCc>gTc	p.A368V	ZNF83_ENST00000391789.4_Missense_Mutation_p.A340V|ZNF83_ENST00000545872.1_Missense_Mutation_p.A368V|ZNF83_ENST00000536937.1_Missense_Mutation_p.A368V|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000544146.1_Missense_Mutation_p.A368V|ZNF83_ENST00000541777.2_Missense_Mutation_p.A368V|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000301096.3_Missense_Mutation_p.A368V			P51522	ZNF83_HUMAN	zinc finger protein 83	368					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TTTCTCACCGGCATGAATTAT	0.403																																						ENST00000597597.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(1102-1104)gCc>gTc		zinc finger protein 83							118	116	117					19																	53116715		2203	4300	6503	SO:0001583	missense	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53116715G>A	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"Zinc fingers, C2H2-type"	13158	protein-coding gene	gene with protein product		194558	"zinc finger protein 83 (HPF1)", "zinc finger protein 816B"	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.1103C>T	19.37:g.53116715G>A	ENSP00000472619:p.Ala368Val					ZNF83_ENST00000545872.1_Missense_Mutation_p.A368V|ZNF83_ENST00000301096.3_Missense_Mutation_p.A368V|ZNF83_ENST00000544146.1_Missense_Mutation_p.A368V|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000536937.1_Missense_Mutation_p.A368V|ZNF83_ENST00000391789.4_Missense_Mutation_p.A340V|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000541777.2_Missense_Mutation_p.A368V	p.A368V			P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	3356	-			368					A8MT75|Q3ZCX0|Q6PI08	Missense_Mutation	SNP	ENST00000597597.1	37	c.1103C>T	CCDS12854.1	.	.	.	.	.	.	.	.	.	.	N	12.30	1.897477	0.33535	.	.	ENSG00000167766	ENST00000536937;ENST00000301096;ENST00000544146;ENST00000434535;ENST00000545872;ENST00000541777;ENST00000391789	T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26	2.13	-0.5	0.12012	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10766	0.0263	N	0.16567	0.415	0.20489	N	0.999896	B;B	0.21225	0.002;0.053	B;B	0.30716	0.003;0.119	T	0.38222	-0.9671	9	0.72032	D	0.01	.	5.3611	0.16087	0.1346:0.2072:0.6582:0.0	.	340;368	P51522-2;P51522	.;ZNF83_HUMAN	V	368;368;368;340;368;368;340	ENSP00000445993:A368V;ENSP00000301096:A368V;ENSP00000445470:A368V;ENSP00000440713:A368V;ENSP00000439681:A368V;ENSP00000375666:A340V	ENSP00000301096:A368V	A	-	2	0	ZNF83	57808527	0.979000	0.34478	0.002000	0.10522	0.003000	0.03518	2.061000	0.41403	-0.199000	0.10317	0.313000	0.20887	GCC		0.403	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		4	182	0	0	0	0.009096	0	4	182					A	53116715	G	A	53116715	3	1	79	1	0	0	0	0	1	0	0	0	18180	1203	42	2	451	2	ZNF83	19	53116715	Missense_Mutation	SNP	G	TCGA-DJ-A13X-01A-11D-A10S-08	49664125	53116715	6012268	22	1819											
NLRP5	126206	broad.mit.edu	37	chr19	56561809	56561809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagtgccacctggacacgGctggctgtggttttcttgca	12	11	2	0			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr19:56561809G>A	ENST00000390649.3	+	12	2983	c.2983G>A	c.(2983-2985)Gct>Act	p.A995T		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	995					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCTGGACACGGCTGGCTGTGG	0.547																																						ENST00000390649.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(2983-2985)Gct>Act		NLR family, pyrin domain containing 5							97	103	101					19																	56561809		2083	4219	6302	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56561809G>A	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2983G>A	19.37:g.56561809G>A	ENSP00000375063:p.Ala995Thr						p.A995T	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	12	2983	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	995					A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.2983G>A	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	2.685	-0.274448	0.05679	.	.	ENSG00000171487	ENST00000390649	T	0.54071	0.59	3.63	-1.61	0.08399	.	0.996923	0.08117	N	0.995308	T	0.44095	0.1277	L	0.56340	1.77	0.09310	N	1	B	0.27882	0.192	B	0.33690	0.168	T	0.39961	-0.9588	10	0.12766	T	0.61	.	6.8671	0.24100	0.5779:0.0:0.4221:0.0	.	995	P59047	NALP5_HUMAN	T	995	ENSP00000375063:A995T	ENSP00000375063:A995T	A	+	1	0	NLRP5	61253621	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.668000	0.25127	-0.213000	0.10094	-0.145000	0.13849	GCT		0.547	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		3	48	0	0	0	0.115264	0	3	48					A	56561809	G	A	56561809	3	1	79	1	0	0	0	0	1	0	0	0	10480	1203	42	2	3029	2	NLRP5	19	56561809	Missense_Mutation	SNP	G	TCGA-DJ-A13X-01A-11D-A10S-08	3445094	56561809	2567174	23	1820											
BPIL1	80341	broad.mit.edu	37	chr20	31600702	31600702	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcagcagctaattttactttCaaggtctttcggtgagcgga	11	8	2	1	rs540459199		TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr20:31600702C>T	ENST00000170150.3	+	4	492	c.297C>T	c.(295-297)ttC>ttT	p.F99F		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	99						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)	p.F99L(1)									ATTTTACTTTCAAGGTCTTTC	0.557																																						ENST00000170150.3																			1	Substitution - Missense(1)	p.F99L(1)	ovary(1)								c.(295-297)ttC>ttT		BPI fold containing family B, member 2							118	114	115					20																	31600702		2203	4300	6503	SO:0001819	synonymous_variant	80341					extracellular region	lipid binding	g.chr20:31600702C>T	AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"BPI fold containing"	16177	protein-coding gene	gene with protein product		614108	"bactericidal/permeability-increasing protein-like 1"	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.297C>T	20.37:g.31600702C>T							p.F99F	NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN			4	492	+			99					Q6UWN3|Q6ZME0|Q8NFQ7	Silent	SNP	ENST00000170150.3	37	c.297C>T	CCDS13210.1																																																																																				0.557	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227		6	178	0	0	0	0.021553	0	6	178					T	31600702	C	T	31600702	2	4	79	1	0	0	0	0	0	0	0	1	1491	825	29	2		2	BPIL1	20	31600702	Silent	SNP	C	TCGA-DJ-A13X-01A-11D-A10S-08		31600702	31424818	24	1821											
FAM83D	81610	broad.mit.edu	37	chr20	37576551	37576551	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cggactatcacaggaaatatCtactatgcaaggtcaggaac	9	9	3	0			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr20:37576551C>G	ENST00000217429.4	+	3	815	c.774C>G	c.(772-774)atC>atG	p.I258M		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	228					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				CAGGAAATATCTACTATGCAA	0.428																																						ENST00000217429.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28						c.(772-774)atC>atG		family with sequence similarity 83, member D							136	129	131					20																	37576551		1933	4136	6069	SO:0001583	missense	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37576551C>G	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 129"	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.774C>G	20.37:g.37576551C>G	ENSP00000217429:p.Ile258Met						p.I258M	NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN			3	815	+		Myeloproliferative disorder(115;0.00878)	228					B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Missense_Mutation	SNP	ENST00000217429.4	37	c.774C>G	CCDS42872.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.489753	0.64074	.	.	ENSG00000101447	ENST00000217429;ENST00000424027	T	0.11385	2.78	6.16	0.143	0.14820	.	0.250072	0.43747	D	0.000523	T	0.11965	0.0291	L	0.40543	1.245	0.30569	N	0.763719	P	0.47545	0.897	P	0.51657	0.676	T	0.07673	-1.0760	10	0.48119	T	0.1	.	4.9509	0.14013	0.3933:0.3351:0.0:0.2716	.	228	Q9H4H8	FA83D_HUMAN	M	258;212	ENSP00000217429:I258M	ENSP00000217429:I258M	I	+	3	3	FAM83D	37009965	0.001000	0.12720	0.997000	0.53966	0.990000	0.78478	-0.785000	0.04628	0.141000	0.18875	0.650000	0.86243	ATC		0.428	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			5	161	0	0	0	0.014758	0	5	161					G	37576551	C	G	37576551	3	3	79	1	0	0	0	0	1	0	0	0	5636	903	32	4	784	4	FAM83D	20	37576551	Missense_Mutation	SNP	C	TCGA-DJ-A13X-01A-11D-A10S-08	5975849	37576551	25448969	25	1822											
AMPD2	271	broad.mit.edu	37	chr1	110170763	110170763	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagcatctgctgcgcttcaTcaagcgggcaatgaagcggc	13	11	3	1			TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr1:110170763T>C	ENST00000256578.3	+	10	1661	c.1301T>C	c.(1300-1302)aTc>aCc	p.I434T	AMPD2_ENST00000528454.1_Missense_Mutation_p.I316T|AMPD2_ENST00000393688.3_Missense_Mutation_p.I315T|AMPD2_ENST00000526301.1_3'UTR|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000342115.4_Missense_Mutation_p.I353T|AMPD2_ENST00000528667.1_Missense_Mutation_p.I434T|AMPD2_ENST00000358729.4_Missense_Mutation_p.I359T	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	434					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTGCGCTTCATCAAGCGGGCA	0.597																																						ENST00000256578.3																			0				breast(1)|large_intestine(3)|ovary(2)|skin(1)	7						c.(1300-1302)aTc>aCc		adenosine monophosphate deaminase 2							72	70	70					1																	110170763		2203	4300	6503	SO:0001583	missense	271				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:110170763T>C	S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"AMPD isoform L"	102771	"adenosine monophosphate deaminase 2 (isoform L)"			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.1301T>C	1.37:g.110170763T>C	ENSP00000256578:p.Ile434Thr					AMPD2_ENST00000528667.1_Missense_Mutation_p.I434T|AMPD2_ENST00000528454.1_Missense_Mutation_p.I316T|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000393688.3_Missense_Mutation_p.I315T|AMPD2_ENST00000342115.4_Missense_Mutation_p.I353T|AMPD2_ENST00000358729.4_Missense_Mutation_p.I359T	p.I434T	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)	10	1661	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	434					B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	ENST00000256578.3	37	c.1301T>C	CCDS805.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.640635	0.87859	.	.	ENSG00000116337	ENST00000342115;ENST00000528667;ENST00000256578;ENST00000358729;ENST00000528454;ENST00000393688	D;D;D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85;-2.85;-2.85	5.04	5.04	0.67666	Adenosine/AMP deaminase (1);	0.000000	0.85682	D	0.000000	D	0.96262	0.8781	H	0.95079	3.62	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.97355	0.9966	10	0.87932	D	0	-34.7336	13.8948	0.63764	0.0:0.0:0.0:1.0	.	359;315;434;353	Q01433-4;Q01433-3;Q01433;Q01433-2	.;.;AMPD2_HUMAN;.	T	353;434;434;359;316;315	ENSP00000345498:I353T;ENSP00000436541:I434T;ENSP00000256578:I434T;ENSP00000351573:I359T;ENSP00000437164:I316T;ENSP00000377292:I315T	ENSP00000256578:I434T	I	+	2	0	AMPD2	109972286	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.792000	0.85828	2.128000	0.65567	0.459000	0.35465	ATC		0.597	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1			4	20	0	0	0	0.009096	0	4	20					C	110170763	T	C	110170763	3	2	80	1	0	0	0	0	1	0	0	0	586	1435	50	3	1380	3	AMPD2	1	110170763	Missense_Mutation	SNP	T	TCGA-DJ-A1QD-01A-11D-A14W-08		110170763	139079858	1	1823											
OBSCN	84033	broad.mit.edu	37	chr1	228437938	228437938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccttcagcctggacgtgGcaggtcagtgctttgtgggc	14	11	3	0			TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr1:228437938G>A	ENST00000422127.1	+	14	4350	c.4306G>A	c.(4306-4308)Gca>Aca	p.A1436T	OBSCN_ENST00000284548.11_Missense_Mutation_p.A1436T|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.A1528T|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1436					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCTGGACGTGGCAGGTCAGTG	0.632																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(4582-4584)Gca>Aca		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							60	72	68					1																	228437938		2063	4188	6251	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228437938G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4306G>A	1.37:g.228437938G>A	ENSP00000409493:p.Ala1436Thr					OBSCN_ENST00000422127.1_Missense_Mutation_p.A1436T|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.A1436T	p.A1528T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			15	4656	+		Prostate(94;0.0405)	506					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.4582G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	5.432	0.264838	0.10294	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.04454	3.62;3.62	5.2	-7.89	0.01174	Immunoglobulin subtype (1);	1.008250	0.07968	N	0.983494	T	0.01940	0.0061	N	0.16903	0.455	0.22648	N	0.998891	B;B	0.26400	0.021;0.148	B;B	0.18263	0.007;0.021	T	0.45991	-0.9223	10	0.11485	T	0.65	.	3.6033	0.08032	0.348:0.1923:0.3658:0.0939	.	1436;1436	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	T	1436	ENSP00000284548:A1436T;ENSP00000409493:A1436T	ENSP00000284548:A1436T	A	+	1	0	OBSCN	226504561	0.000000	0.05858	0.044000	0.18714	0.035000	0.12851	-0.964000	0.03833	-1.709000	0.01399	-0.768000	0.03414	GCA		0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		4	106	0	0	0	0.014758	0	4	106					A	228437938	G	A	228437938	3	1	80	1	0	0	0	0	1	0	0	0	10812	1203	42	2	4356	2	OBSCN	1	228437938	Missense_Mutation	SNP	G	TCGA-DJ-A1QD-01A-11D-A14W-08	118267175	228437938	20812683	2	1824											
SPINK9	643394	broad.mit.edu	37	chr5	147716006	147716006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatagaatgtgccaaacagaCgaaacagatggtcagtacac	9	8	1	3			TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr5:147716006C>T	ENST00000377906.1	+	2	132	c.77C>T	c.(76-78)aCg>aTg	p.T26M	RP11-373N22.3_ENST00000501695.3_RNA|SPINK9_ENST00000511717.2_Missense_Mutation_p.T47M	NM_001040433.1	NP_001035523.1	Q5DT21	ISK9_HUMAN	serine peptidase inhibitor, Kazal type 9	26	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			ovary(1)|urinary_tract(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCAAACAGACGAAACAGATG	0.303																																						ENST00000511717.2																			0				ovary(1)|urinary_tract(1)	2						c.(139-141)aCg>aTg		serine peptidase inhibitor, Kazal type 9							166	165	165					5																	147716006		2203	4300	6503	SO:0001583	missense	643394					extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr5:147716006C>T	AY396740	CCDS34269.1	5q33.1	2011-08-31				ENSG00000204909		"Serine peptidase inhibitors, Kazal type"	32951	protein-coding gene	gene with protein product		613511					Standard	NM_001040433		Approved		uc003lpe.1	Q5DT21		ENST00000377906.1:c.77C>T	5.37:g.147716006C>T	ENSP00000367139:p.Thr26Met					RP11-373N22.3_ENST00000501695.3_RNA|SPINK9_ENST00000377906.1_Missense_Mutation_p.T26M	p.T47M			Q5DT21	ISK9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	410	+			26			Kazal-like.		B2RPN9	Missense_Mutation	SNP	ENST00000377906.1	37	c.140C>T	CCDS34269.1	.	.	.	.	.	.	.	.	.	.	C	5.494	0.276225	0.10403	.	.	ENSG00000204909	ENST00000511717;ENST00000377906	T;T	0.61040	0.14;0.34	2.87	-0.562	0.11781	.	10.985800	0.00166	N	0.000006	T	0.44726	0.1307	.	.	.	0.09310	N	1	D	0.62365	0.991	B	0.42625	0.393	T	0.35325	-0.9793	9	0.34782	T	0.22	0.0357	3.2232	0.06723	0.3243:0.2577:0.418:0.0	.	26	Q5DT21	ISK9_HUMAN	M	47;26	ENSP00000427240:T47M;ENSP00000367139:T26M	ENSP00000367139:T26M	T	+	2	0	SPINK9	147696199	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-1.142000	0.03203	-0.137000	0.11455	-1.058000	0.02302	ACG		0.303	SPINK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373382.1	NM_001040433		24	88	0	0	0	0.030593	0	24	88					T	147716006	C	T	147716006	3	4	80	1	0	0	0	0	1	0	0	0	15065	536	19	1	83	1	SPINK9	5	147716006	Missense_Mutation	SNP	C	TCGA-DJ-A1QD-01A-11D-A14W-08		147716006	33199254	3	1825											
C6orf136	221545	broad.mit.edu	37	chr6	30619209	30619209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtccacttgctctttttgCggttctacaagcgtgacaaa	8	12	2	1			TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr6:30619209C>T	ENST00000376473.5	+	4	889	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	C6orf136_ENST00000376471.4_Missense_Mutation_p.R110W|AL662800.2_ENST00000583820.1_RNA|C6orf136_ENST00000528347.2_Missense_Mutation_p.R101W|C6orf136_ENST00000293604.6_Missense_Mutation_p.R425W	NM_001109938.2	NP_001103408.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	244						mitochondrion (GO:0005739)				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						GCTCTTTTTGCGGTTCTACAA	0.498																																						ENST00000293604.6																			0				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						c.(1273-1275)Cgg>Tgg		chromosome 6 open reading frame 136							123	140	135					6																	30619209		2203	4300	6503	SO:0001583	missense	221545							g.chr6:30619209C>T	BC016167	CCDS4684.1, CCDS43443.1, CCDS4684.2, CCDS54979.1	6p21.32	2012-02-06			ENSG00000204564	ENSG00000204564			21301	protein-coding gene	gene with protein product							Standard	NM_001109938		Approved	Em:AB023049.8	uc003nqx.4	Q5SQH8	OTTHUMG00000031221	ENST00000376473.5:c.730C>T	6.37:g.30619209C>T	ENSP00000365656:p.Arg244Trp					C6orf136_ENST00000376471.4_Missense_Mutation_p.R110W|C6orf136_ENST00000376473.5_Missense_Mutation_p.R244W|C6orf136_ENST00000528347.2_Missense_Mutation_p.R101W	p.R425W	NM_001161376.1	NP_001154848.1	Q5SQH8	CF136_HUMAN			4	1466	+			244					A9R9P9|F8VX15|Q5SU01|Q6ZSB7|Q8TB84	Missense_Mutation	SNP	ENST00000376473.5	37	c.1273C>T	CCDS43443.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148824	0.78001	.	.	ENSG00000204564	ENST00000293604;ENST00000376473;ENST00000376471;ENST00000446773;ENST00000528347;ENST00000465699;ENST00000467801;ENST00000468785	.	.	.	5.26	4.38	0.52667	.	0.175130	0.51477	D	0.000081	T	0.59932	0.2230	L	0.44542	1.39	0.40423	D	0.97986	D;D;D	0.89917	1.0;0.998;1.0	D;P;D	0.78314	0.981;0.849;0.991	T	0.62751	-0.6788	9	0.72032	D	0.01	-9.0868	11.6498	0.51282	0.0:0.9144:0.0:0.0856	.	110;425;244	A9R9P9;F8VX15;Q5SQH8	.;.;CF136_HUMAN	W	425;244;110;362;101;66;57;17	.	ENSP00000293604:R425W	R	+	1	2	C6orf136	30727188	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	3.446000	0.52928	2.733000	0.93635	0.655000	0.94253	CGG		0.498	C6orf136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076457.4	NM_145029		6	285	0	0	0	0.02938	0	6	285					T	30619209	C	T	30619209	3	4	80	1	0	0	0	0	1	0	0	0	2331	759	27	1	1287	1	C6orf136	6	30619209	Missense_Mutation	SNP	C	TCGA-DJ-A1QD-01A-11D-A14W-08		30619209	140495858	4	1826											
VNN2	8875	broad.mit.edu	37	chr6	133070907	133070907	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catactctgttccaaatgtgCcactgagggagaacatttca	8	10	2	2			TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr6:133070907C>T	ENST00000326499.6	-	6	1422	c.1298G>A	c.(1297-1299)gGc>gAc	p.G433D	VNN2_ENST00000525270.1_Missense_Mutation_p.G380D|VNN2_ENST00000525289.1_Missense_Mutation_p.G212D|RP1-55C23.7_ENST00000430895.1_RNA	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	433					cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		TCCAAATGTGCCACTGAGGGA	0.393																																						ENST00000326499.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1297-1299)gGc>gAc		vanin 2							101	89	93					6																	133070907		2203	4300	6503	SO:0001583	missense	8875				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	g.chr6:133070907C>T	AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"Vanins"	12706	protein-coding gene	gene with protein product	"pantetheinase"	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.1298G>A	6.37:g.133070907C>T	ENSP00000322276:p.Gly433Asp					VNN2_ENST00000525289.1_Missense_Mutation_p.G212D|VNN2_ENST00000525270.1_Missense_Mutation_p.G380D	p.G433D	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)	6	1422	-			433					A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Missense_Mutation	SNP	ENST00000326499.6	37	c.1298G>A	CCDS5161.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.115359	0.77323	.	.	ENSG00000112303	ENST00000326499;ENST00000525270;ENST00000525289	D;D;D	0.93547	-3.24;-3.24;-3.24	5.29	4.41	0.53225	.	0.000000	0.64402	D	0.000006	D	0.95230	0.8453	M	0.80508	2.5	0.23542	N	0.997455	D;D	0.89917	1.0;1.0	D;D	0.87578	0.981;0.998	D	0.90895	0.4764	10	0.87932	D	0	-9.4162	13.2254	0.59912	0.0:0.9205:0.0:0.0795	.	212;433	O95498-2;O95498	.;VNN2_HUMAN	D	433;380;212	ENSP00000322276:G433D;ENSP00000436822:G380D;ENSP00000436935:G212D	ENSP00000322276:G433D	G	-	2	0	VNN2	133112600	0.998000	0.40836	0.993000	0.49108	0.972000	0.66771	3.400000	0.52594	1.205000	0.43262	0.655000	0.94253	GGC		0.393	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2			3	40	0	0	0	0.009096	0	3	40					T	133070907	C	T	133070907	3	4	80	1	0	0	0	0	1	0	0	0	17180	739	26	2	272	2	VNN2	6	133070907	Missense_Mutation	SNP	C	TCGA-DJ-A1QD-01A-11D-A14W-08	102451698	133070907	38044160	5	1827											
CCDC132	55610	broad.mit.edu	37	chr7	92869233	92869233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggtgccatagagagtctcCgggtccctggaaaggtattg	14	8	1	1			TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr7:92869233C>T	ENST00000305866.5	+	2	216	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	CCDC132_ENST00000544910.1_5'UTR|CCDC132_ENST00000251739.5_Missense_Mutation_p.R30W|CCDC132_ENST00000535481.1_Missense_Mutation_p.R30W|CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000317751.6_5'UTR	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	30						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			AGAGAGTCTCCGGGTCCCTGG	0.393																																						ENST00000305866.5																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.(88-90)Cgg>Tgg		coiled-coil domain containing 132							97	103	101					7																	92869233		2203	4300	6503	SO:0001583	missense	55610							g.chr7:92869233C>T	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.88C>T	7.37:g.92869233C>T	ENSP00000307666:p.Arg30Trp					CCDC132_ENST00000544910.1_5'UTR|CCDC132_ENST00000251739.5_Missense_Mutation_p.R30W|CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000535481.1_Missense_Mutation_p.R30W	p.R30W	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		2	216	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		30					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	c.88C>T	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086561	0.76642	.	.	ENSG00000004766	ENST00000251739;ENST00000305866;ENST00000458530;ENST00000535481	.	.	.	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.60818	0.2298	L	0.27053	0.805	0.80722	D	1	D;D;D	0.76494	0.994;0.999;0.999	D;P;P	0.63877	0.919;0.853;0.666	T	0.63629	-0.6594	9	0.72032	D	0.01	-11.33	12.7985	0.57571	0.0:1.0:0.0:0.0	.	30;30;30	B4DS55;Q96JG6;Q96JG6-2	.;CC132_HUMAN;.	W	30	.	ENSP00000251739:R30W	R	+	1	2	CCDC132	92707169	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.336000	0.52113	2.741000	0.93983	0.485000	0.47835	CGG		0.393	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		3	79	0	0	0	0.009096	0	3	79					T	92869233	C	T	92869233	3	4	80	1	0	0	0	0	1	0	0	0	2767	643	23	1	94	1	CCDC132	7	92869233	Missense_Mutation	SNP	C	TCGA-DJ-A1QD-01A-11D-A14W-08		92869233	66269430	6	1828											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		18	41	0	0	0	0.038395	0	18	41					T	140453136	A	T	140453136	3	4	80	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A1QD-01A-11D-A14W-08	47583903	140453136	18685527	7	1829											
TMEM176B	28959	broad.mit.edu	37	chr7	150493471	150493471	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tacccctagagccagctgctCataaccaatcctggctgtgg	9	14	1	1	rs141592438		TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr7:150493471C>T	ENST00000447204.2	-	2	559	c.187G>A	c.(187-189)Gag>Aag	p.E63K	TMEM176B_ENST00000429904.2_Missense_Mutation_p.E63K|TMEM176B_ENST00000492607.1_Missense_Mutation_p.E63K|TMEM176B_ENST00000450753.2_Missense_Mutation_p.E63K|TMEM176B_ENST00000326442.5_Missense_Mutation_p.E63K|TMEM176B_ENST00000434545.1_Missense_Mutation_p.E63K	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	63					cell differentiation (GO:0030154)|negative regulation of dendritic cell differentiation (GO:2001199)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.E63Q(1)		cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCAGCTGCTCATAACCAATC	0.498																																						ENST00000447204.2																			1	Substitution - Missense(1)	p.E63Q(1)	cervix(1)	cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19						c.(187-189)Gag>Aag		transmembrane protein 176B							57	57	57					7																	150493471		2203	4300	6503	SO:0001583	missense	28959				cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane		g.chr7:150493471C>T	AF115384	CCDS5908.1, CCDS47746.1	7q36.1	2006-09-04			ENSG00000106565	ENSG00000106565			29596	protein-coding gene	gene with protein product		610385				9922225	Standard	NM_014020		Approved	LR8	uc003whu.4	Q3YBM2	OTTHUMG00000157577	ENST00000447204.2:c.187G>A	7.37:g.150493471C>T	ENSP00000410269:p.Glu63Lys					TMEM176B_ENST00000450753.2_Missense_Mutation_p.E63K|TMEM176B_ENST00000434545.1_Missense_Mutation_p.E63K|TMEM176B_ENST00000492607.1_Missense_Mutation_p.E63K|TMEM176B_ENST00000429904.2_Missense_Mutation_p.E63K|TMEM176B_ENST00000326442.5_Missense_Mutation_p.E63K	p.E63K	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	559	-			63					B2RDK2|D3DWZ7|E9PAV4|Q5BJI2|Q9BT42|Q9Y609	Missense_Mutation	SNP	ENST00000447204.2	37	c.187G>A	CCDS5908.1	.	.	.	.	.	.	.	.	.	.	C	1.993	-0.431417	0.04669	.	.	ENSG00000106565	ENST00000492607;ENST00000326442;ENST00000447204;ENST00000434545;ENST00000429904;ENST00000450753;ENST00000528038	T;T;T;T;T;T	0.08008	3.29;3.29;3.29;3.29;3.29;3.14	4.92	1.04	0.20106	.	1.227770	0.06259	N	0.693596	T	0.03011	0.0089	N	0.02011	-0.69	0.09310	N	1	B;B	0.12630	0.006;0.003	B;B	0.14578	0.011;0.002	T	0.42327	-0.9458	10	0.07325	T	0.83	-1.6786	7.4458	0.27211	0.0:0.6258:0.0:0.3742	.	63;63	E9PAV4;Q3YBM2	.;T176B_HUMAN	K	63	ENSP00000419258:E63K;ENSP00000318409:E63K;ENSP00000410269:E63K;ENSP00000413531:E63K;ENSP00000397810:E63K;ENSP00000404831:E63K	ENSP00000318409:E63K	E	-	1	0	TMEM176B	150124404	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	0.021000	0.13489	0.142000	0.18901	-0.444000	0.05651	GAG		0.498	TMEM176B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349204.1	NM_014020		21	36	0	0	0	0.055883	0	21	36					T	150493471	C	T	150493471	3	4	80	1	0	0	0	0	1	0	0	0	16090	835	29	2	649	2	TMEM176B	7	150493471	Missense_Mutation	SNP	C	TCGA-DJ-A1QD-01A-11D-A14W-08	10040335	150493471	8645192	8	1830											
KIAA1432	57589	broad.mit.edu	37	chr9	5765543	5765543	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccattggctctggagaatctGagacacctccatccacaccc	7	16	2	2			TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr9:5765543G>A	ENST00000414202.2	+	20	3162	c.2971G>A	c.(2971-2973)Gag>Aag	p.E991K	KIAA1432_ENST00000418622.3_Missense_Mutation_p.E912K|KIAA1432_ENST00000449720.2_Missense_Mutation_p.E875K|KIAA1432_ENST00000251879.6_Missense_Mutation_p.E991K|KIAA1432_ENST00000381532.2_Missense_Mutation_p.E912K	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TGGAGAATCTGAGACACCTCC	0.458																																						ENST00000414202.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45						c.(2971-2973)Gag>Aag		KIAA1432							196	187	190					9																	5765543		2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5765543G>A																												ENST00000414202.2:c.2971G>A	9.37:g.5765543G>A	ENSP00000416696:p.Glu991Lys					KIAA1432_ENST00000381532.2_Missense_Mutation_p.E912K|KIAA1432_ENST00000449720.2_Missense_Mutation_p.E875K|KIAA1432_ENST00000251879.6_Missense_Mutation_p.E991K|KIAA1432_ENST00000418622.3_Missense_Mutation_p.E912K	p.E991K	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	20	3162	+		Acute lymphoblastic leukemia(23;0.154)	991						Missense_Mutation	SNP	ENST00000414202.2	37	c.2971G>A	CCDS34982.2	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281791	0.80692	.	.	ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720	.	.	.	5.92	5.92	0.95590	Ribosome control protein 1 (1);	0.137507	0.64402	D	0.000004	T	0.62380	0.2423	L	0.36672	1.1	0.80722	D	1	P;B;B;P	0.36354	0.549;0.123;0.123;0.493	B;B;B;B	0.43413	0.419;0.048;0.122;0.124	T	0.55692	-0.8101	9	0.29301	T	0.29	-19.4455	20.3151	0.98650	0.0:0.0:1.0:0.0	.	875;912;991;991	B7ZM67;B2RN24;Q4ADV7;G5E932	.;.;RIC1_HUMAN;.	K	991;991;912;912;875	.	ENSP00000251879:E991K	E	+	1	0	KIAA1432	5755543	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	9.476000	0.97823	2.809000	0.96659	0.467000	0.42956	GAG		0.458	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			17	168	0	0	0	0.038395	0	17	168					A	5765543	G	A	5765543	3	1	80	1	0	0	0	0	1	0	0	0	8233	1291	45	2	2808	2	KIAA1432	9	5765543	Missense_Mutation	SNP	G	TCGA-DJ-A1QD-01A-11D-A14W-08		5765543	135447888	9	1831											
BIN2	51411	broad.mit.edu	37	chr12	51696492	51696492	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atacgatggccttcagctccTcatgaccgtcccactcgctg	8	16	2	1			TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr12:51696492T>C	ENST00000267012.4	-	4	351	c.290A>G	c.(289-291)gAg>gGg	p.E97G	BIN2_ENST00000452142.2_Missense_Mutation_p.E97G|BIN2_ENST00000604560.1_Missense_Mutation_p.E70G|BIN2_ENST00000544402.1_Missense_Mutation_p.E71G	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	97	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CTTCAGCTCCTCATGACCGTC	0.468																																						ENST00000267012.4																			0				NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						c.(289-291)gAg>gGg		bridging integrator 2							236	212	220					12																	51696492		2203	4300	6503	SO:0001583	missense	51411					cytoplasm	protein binding	g.chr12:51696492T>C	AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.290A>G	12.37:g.51696492T>C	ENSP00000267012:p.Glu97Gly					BIN2_ENST00000452142.2_Missense_Mutation_p.E97G|BIN2_ENST00000604560.1_Missense_Mutation_p.E70G|BIN2_ENST00000544402.1_Missense_Mutation_p.E71G	p.E97G	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN			4	351	-			97			BAR.		Q86VV0|Q9NWK4|Q9UKN4	Missense_Mutation	SNP	ENST00000267012.4	37	c.290A>G	CCDS8811.1	.	.	.	.	.	.	.	.	.	.	T	10.81	1.454155	0.26161	.	.	ENSG00000110934	ENST00000452142;ENST00000267012;ENST00000544402	T;T;T	0.61859	0.07;0.07;0.07	5.18	3.87	0.44632	BAR (3);	0.135960	0.46758	D	0.000272	T	0.53899	0.1825	M	0.71206	2.165	0.35214	D	0.775389	P;P;P	0.35982	0.475;0.515;0.531	B;B;B	0.35688	0.131;0.208;0.206	T	0.68554	-0.5378	10	0.62326	D	0.03	-10.41	8.8272	0.35063	0.0:0.1251:0.0:0.8749	.	71;97;97	F5H0W4;Q9UBW5-2;Q9UBW5	.;.;BIN2_HUMAN	G	97;97;71	ENSP00000410217:E97G;ENSP00000267012:E97G;ENSP00000445874:E71G	ENSP00000267012:E97G	E	-	2	0	BIN2	49982759	0.975000	0.34042	0.997000	0.53966	0.022000	0.10575	1.888000	0.39708	2.102000	0.63906	0.533000	0.62120	GAG		0.468	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000469800.1			3	164	0	0	0	0.004672	0	3	164					C	51696492	T	C	51696492	3	2	80	1	0	0	0	0	1	0	0	0	1433	1551	54	3	1447	3	BIN2	12	51696492	Missense_Mutation	SNP	T	TCGA-DJ-A1QD-01A-11D-A14W-08		51696492	82155403	10	1832											
ACAN	176	broad.mit.edu	37	chr15	89401667	89401667	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtaacccaggctccaacaGcccaagaggcaggagaaggg	13	12	0	2			TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr15:89401667G>A	ENST00000561243.1	+	11	5851	c.5851G>A	c.(5851-5853)Gcc>Acc	p.A1951T	ACAN_ENST00000559004.1_Missense_Mutation_p.A1951T|ACAN_ENST00000352105.7_Missense_Mutation_p.A1951T|ACAN_ENST00000439576.2_Missense_Mutation_p.A1951T			P16112	PGCA_HUMAN	aggrecan	1936	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGCTCCAACAGCCCAAGAGGC	0.517																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(5851-5853)Gcc>Acc		aggrecan							44	46	45					15																	89401667		1878	4107	5985	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89401667G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.5851G>A	15.37:g.89401667G>A	ENSP00000453342:p.Ala1951Thr					ACAN_ENST00000352105.7_Missense_Mutation_p.A1951T|ACAN_ENST00000561243.1_Missense_Mutation_p.A1951T|ACAN_ENST00000559004.1_Missense_Mutation_p.A1951T	p.A1951T	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	6225	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		1951					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.5851G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.217451	0.39201	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02863	4.37;4.13	5.29	5.29	0.74685	.	0.000000	0.32503	N	0.006009	T	0.10337	0.0253	L	0.58302	1.8	0.27146	N	0.961539	P;D	0.71674	0.922;0.998	P;D	0.83275	0.791;0.996	T	0.16394	-1.0404	10	0.22706	T	0.39	-25.1749	11.4087	0.49913	0.0822:0.0:0.9178:0.0	.	1951;1951	E7ENV9;E7EX88	.;.	T	1951;1951;1837	ENSP00000387356:A1951T;ENSP00000341615:A1951T	ENSP00000268134:A1837T	A	+	1	0	ACAN	87202671	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	4.369000	0.59511	2.468000	0.83385	0.655000	0.94253	GCC		0.517	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		13	64	0	0	0	0.105934	0	13	64					A	89401667	G	A	89401667	3	1	80	1	0	0	0	0	1	0	0	0	117	971	34	2	5893	2	ACAN	15	89401667	Missense_Mutation	SNP	G	TCGA-DJ-A1QD-01A-11D-A14W-08		89401667	13129725	11	1833											
KLHL10	317719	broad.mit.edu	37	chr17	40001678	40001678	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttgtgaggaagagagtcccCgtgcctaccatggggcagcc	14	12	0	2			TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr17:40001678C>A	ENST00000293303.4	+	3	1138	c.985C>A	c.(985-987)Cgt>Agt	p.R329S		NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	329					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				AGAGAGTCCCCGTGCCTACCA	0.493																																						ENST00000293303.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(985-987)Cgt>Agt		kelch-like family member 10							80	79	79					17																	40001678		1944	4134	6078	SO:0001583	missense	317719					cytoplasm		g.chr17:40001678C>A	AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"Kelch-like", "BTB/POZ domain containing"	18829	protein-coding gene	gene with protein product		608778	"kelch-like 10 (Drosophila)"				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.985C>A	17.37:g.40001678C>A	ENSP00000293303:p.Arg329Ser						p.R329S	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN			3	1138	+		Breast(137;0.000162)	329					Q6NW28|Q96MC0	Missense_Mutation	SNP	ENST00000293303.4	37	c.985C>A	CCDS42340.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424103	0.83667	.	.	ENSG00000161594	ENST00000293303	D	0.85629	-2.01	6.17	6.17	0.99709	Galactose oxidase, beta-propeller (1);	0.053379	0.64402	D	0.000001	D	0.95430	0.8516	H	0.98370	4.215	0.58432	D	0.999993	D;D	0.89917	0.999;1.0	D;D	0.75484	0.97;0.986	D	0.96414	0.9306	9	.	.	.	.	14.2995	0.66336	0.1485:0.8515:0.0:0.0	.	323;329	B4DXV2;Q6JEL2	.;KLH10_HUMAN	S	329	ENSP00000293303:R329S	.	R	+	1	0	KLHL10	37255204	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	2.471000	0.45127	2.941000	0.99782	0.655000	0.94253	CGT		0.493	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	NM_152467		3	54	1	0	0.004672	0.004672	0.00568765	3	54					A	40001678	C	A	40001678	3	1	80	1	0	0	0	0	1	0	0	0	8366	652	23	4	995	4	KLHL10	17	40001678	Missense_Mutation	SNP	C	TCGA-DJ-A1QD-01A-11D-A14W-08		40001678	41193532	12	1834											
PLD5	200150	broad.mit.edu	37	chr1	242428743	242428743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcaacttttcaaaaagaCgttgaccctggaaaaaatat	8	7	1	2			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr1:242428743C>T	ENST00000536534.2	-	4	744	c.503G>A	c.(502-504)cGt>cAt	p.R168H	PLD5_ENST00000442594.2_Missense_Mutation_p.R76H|PLD5_ENST00000474177.1_5'Flank|PLD5_ENST00000427495.1_Missense_Mutation_p.R106H			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	168						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TTCAAAAAGACGTTGACCCTG	0.313																																						ENST00000442594.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55						c.(226-228)cGt>cAt		phospholipase D family, member 5							46	43	44					1																	242428743		2202	4300	6502	SO:0001583	missense	200150					integral to membrane	catalytic activity	g.chr1:242428743C>T	AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.503G>A	1.37:g.242428743C>T	ENSP00000440896:p.Arg168His					PLD5_ENST00000536534.1_Missense_Mutation_p.R168H|PLD5_ENST00000427495.1_Missense_Mutation_p.R106H	p.R76H	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		5	736	-	Melanoma(84;0.242)		168					A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	c.227G>A	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	C	14.72	2.618876	0.46736	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534;ENST00000459864	T;T;T;T	0.44881	2.47;2.47;2.47;0.91	5.55	4.64	0.57946	.	0.233908	0.45867	D	0.000327	T	0.29914	0.0748	N	0.25890	0.77	0.42055	D	0.991136	B;B;B	0.21381	0.025;0.04;0.055	B;B;B	0.14578	0.005;0.003;0.011	T	0.08472	-1.0720	10	0.42905	T	0.14	-5.6817	11.6272	0.51153	0.0:0.9169:0.0:0.0831	.	76;168;106	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	H	106;76;168;106	ENSP00000401285:R106H;ENSP00000414188:R76H;ENSP00000440896:R168H;ENSP00000438191:R106H	ENSP00000401285:R106H	R	-	2	0	PLD5	240495366	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.683000	0.37638	1.478000	0.48253	0.655000	0.94253	CGT		0.313	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666		19	33	0	0	0	0.006122	0	19	33					T	242428743	C	T	242428743	3	4	81	1	0	0	0	0	1	0	0	0	12049	536	19	1	1135	1	PLD5	1	242428743	Missense_Mutation	SNP	C	TCGA-DJ-A1QE-01A-21D-A14W-08		242428743	6821878	1	1835											
PHF7	51533	broad.mit.edu	37	chr3	52454958	52454958	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcccaacacagaacatccaAcatgggcatgtgggggagga	13	11	0	1			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr3:52454958A>G	ENST00000327906.3	+	7	1113	c.453A>G	c.(451-453)caA>caG	p.Q151Q	PHF7_ENST00000347025.2_Silent_p.Q151Q	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	151						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		AGAACATCCAACATGGGCATG	0.468																																						ENST00000327906.3																			0				breast(2)|large_intestine(4)|lung(3)	9						c.(451-453)caA>caG		PHD finger protein 7							170	155	160					3																	52454958		2203	4300	6503	SO:0001819	synonymous_variant	51533					nucleus	zinc ion binding	g.chr3:52454958A>G	AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"Zinc fingers, PHD-type"	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495	ENST00000327906.3:c.453A>G	3.37:g.52454958A>G						PHF7_ENST00000347025.2_Silent_p.Q151Q|PHF7_ENST00000478707.1_Silent_p.Q151Q	p.Q151Q	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)	7	1113	+			151					K4DI82	Silent	SNP	ENST00000327906.3	37	c.453A>G	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	A	0.991	-0.693984	0.03303	.	.	ENSG00000010318	ENST00000454052;ENST00000461861	.	.	.	5.8	-9.83	0.00482	.	.	.	.	.	T	0.21550	0.0519	.	.	.	0.18873	N	0.999988	.	.	.	.	.	.	T	0.36040	-0.9764	5	0.62326	D	0.03	-1.0853	0.5498	0.00661	0.2029:0.2047:0.2783:0.3141	.	.	.	.	S	116;111	.	ENSP00000399257:N116S	N	+	2	0	PHF7	52429998	0.001000	0.12720	0.000000	0.03702	0.428000	0.31595	-0.562000	0.05950	-1.811000	0.01229	0.459000	0.35465	AAC		0.468	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		44	61	0	0	0	0.002222	0	44	61					G	52454958	A	G	52454958	2	3	81	1	0	0	0	0	0	0	0	1	11839	40	2	3		3	PHF7	3	52454958	Silent	SNP	A	TCGA-DJ-A1QE-01A-21D-A14W-08		52454958	145567472	2	1836											
PLA1A	51365	broad.mit.edu	37	chr3	119336952	119336952	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgtccactgatggcctttCcctgtgccagctacaaggcc	9	16	0	1			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr3:119336952C>T	ENST00000273371.4	+	7	913	c.841C>T	c.(841-843)Ccc>Tcc	p.P281S	PLA1A_ENST00000495992.1_Missense_Mutation_p.P265S|PLA1A_ENST00000488919.1_Missense_Mutation_p.P108S|PLA1A_ENST00000494440.1_Missense_Mutation_p.P265S	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	281					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GATGGCCTTTCCCTGTGCCAG	0.498																																						ENST00000273371.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(841-843)Ccc>Tcc		phospholipase A1 member A							314	300	305					3																	119336952		2203	4300	6503	SO:0001583	missense	51365				lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	g.chr3:119336952C>T	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.841C>T	3.37:g.119336952C>T	ENSP00000273371:p.Pro281Ser					PLA1A_ENST00000494440.1_Missense_Mutation_p.P265S|PLA1A_ENST00000488919.1_Missense_Mutation_p.P108S|PLA1A_ENST00000495992.1_Missense_Mutation_p.P265S	p.P281S	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN			7	913	+			281					B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	ENST00000273371.4	37	c.841C>T	CCDS2991.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798465	0.90538	.	.	ENSG00000144837	ENST00000273371;ENST00000488919;ENST00000495992;ENST00000494440;ENST00000475963	D;D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92;-2.92	5.26	5.26	0.73747	Lipase, N-terminal (1);	0.104023	0.64402	D	0.000002	D	0.95182	0.8438	M	0.64630	1.985	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94937	0.8088	10	0.49607	T	0.09	-22.2552	16.6467	0.85178	0.0:1.0:0.0:0.0	.	265;281	Q53H76-3;Q53H76	.;PLA1A_HUMAN	S	281;108;265;265;147	ENSP00000273371:P281S;ENSP00000420625:P108S;ENSP00000417326:P265S;ENSP00000418793:P265S;ENSP00000417295:P147S	ENSP00000273371:P281S	P	+	1	0	PLA1A	120819642	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	7.373000	0.79623	2.465000	0.83290	0.555000	0.69702	CCC		0.498	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2			26	318	0	0	0	0.005443	0	26	318					T	119336952	C	T	119336952	3	4	81	1	0	0	0	0	1	0	0	0	11988	855	30	2	867	2	PLA1A	3	119336952	Missense_Mutation	SNP	C	TCGA-DJ-A1QE-01A-21D-A14W-08	66881994	119336952	78685478	3	1837											
RPL22L1	200916	broad.mit.edu	37	chr3	170586127	170586127	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttccatcttctactggatgaGtaaggtccaaattaaacctc	6	10	2	1			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr3:170586127G>T	ENST00000295830.8	-	2	377	c.62C>A	c.(61-63)aCt>aAt	p.T21N	RPL22L1_ENST00000463836.1_Missense_Mutation_p.T20N	NM_001099645.1	NP_001093115.1	Q6P5R6	RL22L_HUMAN	ribosomal protein L22-like 1	21					translation (GO:0006412)	ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	4	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			TACTGGATGAGTAAGGTCCAA	0.313																																						ENST00000295830.8																			0				kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	4						c.(61-63)aCt>aAt		ribosomal protein L22-like 1							54	55	55					3																	170586127		1797	4074	5871	SO:0001583	missense	200916				translation	ribosome	structural constituent of ribosome	g.chr3:170586127G>T	BC062731	CCDS46955.1	3q26.2	2005-08-09			ENSG00000163584	ENSG00000163584			27610	protein-coding gene	gene with protein product							Standard	NM_001099645		Approved		uc003fhc.4	Q6P5R6	OTTHUMG00000158957	ENST00000295830.8:c.62C>A	3.37:g.170586127G>T	ENSP00000346080:p.Thr21Asn					RPL22L1_ENST00000463836.1_Missense_Mutation_p.T20N	p.T21N	NM_001099645.1	NP_001093115.1	Q6P5R6	RL22L_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		2	377	-	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)		21					Q32Q77	Missense_Mutation	SNP	ENST00000295830.8	37	c.62C>A	CCDS46955.1	.	.	.	.	.	.	.	.	.	.	G	33	5.211042	0.95069	.	.	ENSG00000163584	ENST00000295830;ENST00000466674;ENST00000463836	T;T;T	0.47528	0.84;0.84;0.84	5.77	5.77	0.91146	.	0.049077	0.85682	D	0.000000	T	0.70979	0.3286	M	0.89785	3.06	0.80722	D	1	P	0.52316	0.952	P	0.53954	0.738	T	0.76995	-0.2752	10	0.72032	D	0.01	.	19.9835	0.97338	0.0:0.0:1.0:0.0	.	21	Q6P5R6	RL22L_HUMAN	N	21;41;20	ENSP00000346080:T21N;ENSP00000419713:T41N;ENSP00000419041:T20N	ENSP00000346080:T21N	T	-	2	0	RPL22L1	172068821	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	5.629000	0.67798	2.726000	0.93360	0.655000	0.94253	ACT		0.313	RPL22L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352586.2	XM_114317		19	25	1	0	0.000229342	0.001882	0.000286677	19	25					T	170586127	G	T	170586127	3	4	81	1	0	0	0	0	1	0	0	0	13569	1029	36	4	318	4	RPL22L1	3	170586127	Missense_Mutation	SNP	G	TCGA-DJ-A1QE-01A-21D-A14W-08	51249175	170586127	27436303	4	1838											
LOX	4015	broad.mit.edu	37	chr5	121409788	121409788	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagacagaaacttgctttgtGgccttcagccactctcctct	7	13	3	2			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr5:121409788G>A	ENST00000231004.4	-	4	1254	c.955C>T	c.(955-957)Cac>Tac	p.H319Y	LOX_ENST00000513319.1_5'UTR|SRFBP1_ENST00000504881.1_Intron	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase	319	Lysyl-oxidase like.				blood vessel development (GO:0001568)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|wound healing (GO:0042060)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)			endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		CTTGCTTTGTGGCCTTCAGCC	0.468																																						ENST00000231004.4																			0				endometrium(1)|lung(6)|prostate(1)	8						c.(955-957)Cac>Tac		lysyl oxidase							163	147	152					5																	121409788		2203	4300	6503	SO:0001583	missense	4015				protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity	g.chr5:121409788G>A		CCDS4129.1	5q23.3-q31.2	2008-02-05			ENSG00000113083	ENSG00000113083	1.4.3.13		6664	protein-coding gene	gene with protein product		153455				1685472	Standard	NM_002317		Approved		uc003ksu.3	P28300	OTTHUMG00000128914	ENST00000231004.4:c.955C>T	5.37:g.121409788G>A	ENSP00000231004:p.His319Tyr					SRFBP1_ENST00000504881.1_Intron|LOX_ENST00000513319.1_5'UTR	p.H319Y	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)	4	1254	-		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	319			Lysyl-oxidase like.		B2R5Q3|Q5FWF0	Missense_Mutation	SNP	ENST00000231004.4	37	c.955C>T	CCDS4129.1	.	.	.	.	.	.	.	.	.	.	G	32	5.187466	0.94923	.	.	ENSG00000113083	ENST00000231004;ENST00000543620	T	0.39229	1.09	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.75079	0.3801	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79960	-0.1583	10	0.87932	D	0	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	319	P28300	LYOX_HUMAN	Y	319;279	ENSP00000231004:H319Y	ENSP00000231004:H319Y	H	-	1	0	LOX	121437687	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	9.869000	0.99810	2.840000	0.97914	0.655000	0.94253	CAC		0.468	LOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250887.2			4	123	0	0	0	0.000248	0	4	123					A	121409788	G	A	121409788	3	1	81	1	0	0	0	0	1	0	0	0	8898	1348	47	2	314	2	LOX	5	121409788	Missense_Mutation	SNP	G	TCGA-DJ-A1QE-01A-21D-A14W-08		121409788	59505472	5	1839											
SPAM1	6677	broad.mit.edu	37	chr7	123599696	123599696	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agtgactatcttcacctcaaCccagataattttgctattca	4	11	4	2			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr7:123599696C>G	ENST00000439500.1	+	6	1816	c.1203C>G	c.(1201-1203)aaC>aaG	p.N401K	SPAM1_ENST00000340011.5_Missense_Mutation_p.N401K|SPAM1_ENST00000402183.2_Missense_Mutation_p.N401K|SPAM1_ENST00000223028.7_Missense_Mutation_p.N401K|SPAM1_ENST00000460182.1_Missense_Mutation_p.N401K	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	401					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TTCACCTCAACCCAGATAATT	0.403																																						ENST00000340011.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1201-1203)aaC>aaG		sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	Hyaluronidase(DB00070)						113	106	108					7																	123599696		2203	4300	6503	SO:0001583	missense	0				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123599696C>G	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.1203C>G	7.37:g.123599696C>G	ENSP00000402123:p.Asn401Lys					SPAM1_ENST00000439500.1_Missense_Mutation_p.N401K|SPAM1_ENST00000223028.7_Missense_Mutation_p.N401K|SPAM1_ENST00000402183.2_Missense_Mutation_p.N401K|SPAM1_ENST00000460182.1_Missense_Mutation_p.N401K	p.N401K	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN			5	1560	+			401					Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	c.1203C>G	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.373169	0.61624	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	5.77	2.98	0.34508	.	0.149680	0.64402	D	0.000015	T	0.64571	0.2610	M	0.88450	2.955	0.36960	D	0.893286	D;D	0.69078	0.997;0.997	D;D	0.67725	0.931;0.953	T	0.73097	-0.4090	10	0.72032	D	0.01	-39.8518	9.3841	0.38331	0.0:0.713:0.0:0.287	.	401;401	Q8TC30;P38567	.;HYALP_HUMAN	K	401	ENSP00000386028:N401K;ENSP00000417934:N401K;ENSP00000345849:N401K;ENSP00000402123:N401K;ENSP00000223028:N401K	ENSP00000223028:N401K	N	+	3	2	SPAM1	123386932	0.522000	0.26266	0.639000	0.29394	0.629000	0.37895	0.744000	0.26245	0.917000	0.36895	0.650000	0.86243	AAC		0.403	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			9	69	0	0	0	0.000978	0	9	69					G	123599696	C	G	123599696	3	3	81	1	0	0	0	0	1	0	0	0	14986	506	18	4	1213	4	SPAM1	7	123599696	Missense_Mutation	SNP	C	TCGA-DJ-A1QE-01A-21D-A14W-08		123599696	35538967	6	1840											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		32	29	0	0	0	0.003271	0	32	29					T	140453136	A	T	140453136	3	4	81	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A1QE-01A-21D-A14W-08	16853440	140453136	18685527	7	1841											
KIAA0146	23514	broad.mit.edu	37	chr8	48625364	48625364	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccttgtgtgtgctgggctcTgaagtcctggaggcactcgc	14	12	1	1			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr8:48625364T>C	ENST00000297423.4	+	15	2502	c.2118T>C	c.(2116-2118)tcT>tcC	p.S706S	SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Silent_p.S636S|SPIDR_ENST00000517693.1_Silent_p.S181S|SPIDR_ENST00000518074.1_Silent_p.S646S	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	706					cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)											TGCTGGGCTCTGAAGTCCTGG	0.597																																						ENST00000297423.4																			0											c.(2116-2118)tcT>tcC		scaffolding protein involved in DNA repair							79	90	86					8																	48625364		2068	4195	6263	SO:0001819	synonymous_variant	23514							g.chr8:48625364T>C	AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"KIAA0146"	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.2118T>C	8.37:g.48625364T>C						SPIDR_ENST00000541342.1_Silent_p.S636S|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000517693.1_Silent_p.S181S|SPIDR_ENST00000518074.1_Silent_p.S646S	p.S706S	NM_001080394.2	NP_001073863.1					15	2502	+								B4DFV2|B4E0Y6|Q96BI5	Silent	SNP	ENST00000297423.4	37	c.2118T>C	CCDS43737.1	.	.	.	.	.	.	.	.	.	.	T	0.426	-0.905652	0.02453	.	.	ENSG00000164808	ENST00000519401	.	.	.	5.52	-11.0	0.00169	.	.	.	.	.	T	0.32406	0.0828	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	T	0.40869	-0.9540	4	.	.	.	.	2.7776	0.05352	0.1816:0.0791:0.3438:0.3954	.	.	.	.	P	388	.	.	L	+	2	0	KIAA0146	48787917	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.589000	0.05767	-1.835000	0.01191	-1.096000	0.02151	CTG		0.597	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1	NM_001080394		3	101	0	0	0	0.000248	0	3	101					C	48625364	T	C	48625364	2	2	81	1	0	0	0	0	0	0	0	1	8157	1567	55	3		3	KIAA0146	8	48625364	Silent	SNP	T	TCGA-DJ-A1QE-01A-21D-A14W-08		48625364	97738658	8	1842											
EXT1	2131	broad.mit.edu	37	chr8	118817027	118817027	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attggaggcaattttgtcacAgcagacaccaggaagttcat	10	8	2	1			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr8:118817027A>G	ENST00000378204.2	-	10	2795	c.1989T>C	c.(1987-1989)gcT>gcC	p.A663A		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	663					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			ATTTTGTCACAGCAGACACCA	0.468			"Mis, N, F, S"			"exostoses, osteosarcoma"			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													ENST00000378204.2			yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	"Mis, N, F, S"	multiple exostoses type 1 gene			M		"exostoses, osteosarcoma"			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38						c.(1987-1989)gcT>gcC		exostosin glycosyltransferase 1							205	189	194					8																	118817027		2203	4300	6503	SO:0001819	synonymous_variant	2131	Langer-Giedion syndrome;Hereditary Multiple Exostoses	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr8:118817027A>G	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"Exostosin glycosyltransferase family"	3512	protein-coding gene	gene with protein product	"Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"	608177	"Langer-Giedion syndrome chromosome region", "exostoses (multiple) 1", "exostosin 1"	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.1989T>C	8.37:g.118817027A>G							p.A663A	NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	STAD - Stomach adenocarcinoma(47;0.012)		10	2795	-	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		663					B2R7V2|Q9BVI9	Silent	SNP	ENST00000378204.2	37	c.1989T>C	CCDS6324.1																																																																																				0.468	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127		17	69	0	0	0	0.00499	0	17	69					G	118817027	A	G	118817027	2	3	81	1	0	0	0	0	0	0	0	1	5323	175	7	3		3	EXT1	8	118817027	Silent	SNP	A	TCGA-DJ-A1QE-01A-21D-A14W-08	70191663	118817027	27546995	9	1843											
C10orf93	54777	broad.mit.edu	37	chr10	134743170	134743170	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaactgcacggtgagcagCgcctcatccccaggcagcag	11	16	1	1	rs201055150		TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr10:134743170C>T	ENST00000368585.3	-	9	1343	c.1005G>A	c.(1003-1005)gcG>gcA	p.A335A	TTC40_ENST00000368586.5_Intron|TTC40_ENST00000368582.2_Intron																breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CGGTGAGCAGCGCCTCATCCC	0.557																																						ENST00000368585.3																			0				breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						c.(1003-1005)gcG>gcA		tetratricopeptide repeat domain 40							136	125	128					10																	134743170		2203	4300	6503	SO:0001819	synonymous_variant	54777							g.chr10:134743170C>T																												ENST00000368585.3:c.1005G>A	10.37:g.134743170C>T						TTC40_ENST00000368586.5_Intron|TTC40_ENST00000368582.2_Intron	p.A335A			Q8IYW2	CJ092_HUMAN			9	1343	-			0						Silent	SNP	ENST00000368585.3	37	c.1005G>A																																																																																					0.557	TTC40-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000051099.1			12	85	0	0	0	0.001368	0	12	85					T	134743170	C	T	134743170	2	4	81	1	0	0	0	0	0	0	0	1	1625	755	27	1		1	C10orf93	10	134743170	Silent	SNP	C	TCGA-DJ-A1QE-01A-21D-A14W-08		134743170	791577	10	1844											
APBB1	322	broad.mit.edu	37	chr11	6422254	6422254	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggtacattccccaggtaaTagacttggaacttctggacc	9	11	1	1			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr11:6422254T>C	ENST00000609360.1	-	12	1736	c.1637A>G	c.(1636-1638)tAt>tGt	p.Y546C	APBB1_ENST00000608394.1_Missense_Mutation_p.Y287C|APBB1_ENST00000389906.2_Missense_Mutation_p.Y546C|APBB1_ENST00000608655.1_Missense_Mutation_p.Y326C|APBB1_ENST00000608704.1_Missense_Mutation_p.Y287C|APBB1_ENST00000529519.1_Missense_Mutation_p.Y71C|APBB1_ENST00000609331.1_Missense_Mutation_p.Y311C|APBB1_ENST00000299402.6_Missense_Mutation_p.Y544C|APBB1_ENST00000608645.1_Missense_Mutation_p.Y287C|APBB1_ENST00000530885.1_Missense_Mutation_p.Y324C|APBB1_ENST00000311051.3_Missense_Mutation_p.Y544C	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	546	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CCCCAGGTAATAGACTTGGAA	0.498																																					GBM(147;1810 2556 5672 39622)	ENST00000389906.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(1636-1638)tAt>tGt		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)							267	270	269					11																	6422254		2201	4296	6497	SO:0001583	missense	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6422254T>C	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.1637A>G	11.37:g.6422254T>C	ENSP00000477213:p.Tyr546Cys					APBB1_ENST00000299402.6_Missense_Mutation_p.Y544C|APBB1_ENST00000524626.1_5'UTR|APBB1_ENST00000311051.3_Missense_Mutation_p.Y544C|APBB1_ENST00000530885.1_Missense_Mutation_p.Y324C	p.Y546C	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	11	1736	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	546			PID 2.		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37	c.1637A>G		.	.	.	.	.	.	.	.	.	.	T	13.55	2.272053	0.40194	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906;ENST00000539758;ENST00000536523;ENST00000544288;ENST00000530885	T;T;T;T	0.19532	2.14;2.14;2.14;2.14	4.88	4.88	0.63580	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.64402	D	0.000002	T	0.30230	0.0758	L	0.36672	1.1	0.42866	D	0.994123	D;D;D	0.76494	0.998;0.997;0.999	D;P;D	0.66847	0.947;0.905;0.932	T	0.03221	-1.1059	10	0.40728	T	0.16	-9.7275	7.9293	0.29893	0.1829:0.0:0.0:0.8171	.	546;324;544	O00213;B7Z2Y0;O00213-2	APBB1_HUMAN;.;.	C	544;544;546;395;287;311;324	ENSP00000299402:Y544C;ENSP00000311912:Y544C;ENSP00000374556:Y546C;ENSP00000433338:Y324C	ENSP00000299402:Y544C	Y	-	2	0	APBB1	6378830	0.947000	0.32204	1.000000	0.80357	0.999000	0.98932	1.628000	0.37060	2.051000	0.60960	0.528000	0.53228	TAT		0.498	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		156	177	0	0	0	0.00361	0	156	177					C	6422254	T	C	6422254	3	2	81	1	0	0	0	0	1	0	0	0	759	1406	49	3	511	3	APBB1	11	6422254	Missense_Mutation	SNP	T	TCGA-DJ-A1QE-01A-21D-A14W-08		6422254	128584262	11	1845											
PIK3C2A	5286	broad.mit.edu	37	chr11	17190952	17190952	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aactggtaatacaggtgtttTtttagtctcgaaactgtcat	8	6	2	0			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr11:17190952T>G	ENST00000265970.7	-	1	336	c.337A>C	c.(337-339)Aaa>Caa	p.K113Q	PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	113	Interaction with clathrin; sufficient to induce clathrin assemby.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	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 binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						ACAGGTGTTTTTTTAGTCTCG	0.403																																						ENST00000265970.7																			0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(337-339)Aaa>Caa		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						127	124	125					11																	17190952		2200	4293	6493	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17190952T>G	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"phosphoinositide-3-kinase, class 2, alpha polypeptide"			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.337A>C	11.37:g.17190952T>G	ENSP00000265970:p.Lys113Gln					PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	p.K113Q	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN			1	336	-			113			Interaction with clathrin.		B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.337A>C	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	T	15.87	2.961888	0.53400	.	.	ENSG00000011405	ENST00000265970;ENST00000544896;ENST00000532035	T	0.65549	-0.16	5.53	5.53	0.82687	.	0.194123	0.53938	D	0.000041	T	0.55561	0.1928	L	0.32530	0.975	0.80722	D	1	P;B	0.41188	0.741;0.058	B;B	0.40940	0.344;0.03	T	0.61292	-0.7092	10	0.66056	D	0.02	-6.4394	15.6399	0.76989	0.0:0.0:0.0:1.0	.	113;113	F5H5W9;O00443	.;P3C2A_HUMAN	Q	113	ENSP00000265970:K113Q	ENSP00000265970:K113Q	K	-	1	0	PIK3C2A	17147528	1.000000	0.71417	0.962000	0.40283	0.984000	0.73092	4.523000	0.60545	2.094000	0.63399	0.482000	0.46254	AAA		0.403	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		12	133	0	0	0	0.001855	0	12	133					G	17190952	T	G	17190952	3	3	81	1	0	0	0	0	1	0	0	0	11909	1850	64	5	4851	5	PIK3C2A	11	17190952	Missense_Mutation	SNP	T	TCGA-DJ-A1QE-01A-21D-A14W-08	10768698	17190952	117815564	12	1846											
DHH	50846	broad.mit.edu	37	chr12	49485004	49485005	+	In_Frame_Ins	INS	-	-	GTTGCG													cgcgccagcaacccatacttINSgttgcggtcgcggtcagacg							TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr12:49485004_49485005insGTTGCG	ENST00000266991.2	-	2	777_778	c.471_472insCGCAAC	c.(469-474)aacaag>aacCGCAACaag	p.156_157insNR	RP11-386G11.8_ENST00000548030.1_RNA|RP11-386G11.8_ENST00000553174.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	156					cell-cell signaling (GO:0007267)|Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|myelination (GO:0042552)|regulation of steroid biosynthetic process (GO:0050810)|response to estradiol (GO:0032355)|spermatid development (GO:0007286)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(4)	8						AACCCATACTTGTTGCGGTCGC	0.609																																						ENST00000266991.2																			0				breast(1)|large_intestine(3)|lung(4)	8						c.(469-474)aaagta>aaCGCAACagta		desert hedgehog																																				SO:0001652	inframe_insertion	50846				cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding	g.chr12:49485004_49485005insGTTGCG	AB010994	CCDS8779.1	12q13.1	2010-06-24	2010-06-24			ENSG00000139549			2865	protein-coding gene	gene with protein product		605423	"desert hedgehog (Drosophila) homolog"			10773676, 10640830	Standard	NM_021044		Approved	HHG-3, MGC35145	uc001rtf.3	O43323	OTTHUMG00000170408	ENST00000266991.2:c.466_471dupCGCAAC	12.37:g.49485005_49485010dupGTTGCG	ENSP00000266991:p.Arg156_Asn157insAsnArg					RP11-386G11.8_ENST00000553174.1_RNA	p.157_157K>NAT	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN			2	777_778	-			157					Q15794	In_Frame_Ins	INS	ENST00000266991.2	37	c.471_472insCGCAAC	CCDS8779.1																																																																																				0.609	DHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408973.1	NM_021044		30	84						30	84	---	---	---	---	GTTGCG	49485005	-	GTTGCG	49485004	7	5	81	1	0	1	1	0	0	0	0	0	4483	1821	63	0	726	0	DHH	12	49485004	In_Frame_Ins	INS	-	TCGA-DJ-A1QE-01A-21D-A14W-08		49485004	84366891	13	1847											
MMP17	4326	broad.mit.edu	37	chr12	132334395	132334395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacgtagaggaaggataccCgcgccccgtctccgacttca	10	14	2	1			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr12:132334395C>T	ENST00000360564.1	+	9	1355	c.1253C>T	c.(1252-1254)cCg>cTg	p.P418L	MMP17_ENST00000535291.1_Missense_Mutation_p.P334L|MMP17_ENST00000535004.1_Intron	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	418					positive regulation of catalytic activity (GO:0043085)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	Marimastat(DB00786)	GAAGGATACCCGCGCCCCGTC	0.617																																						ENST00000360564.1																			0				endometrium(1)|large_intestine(3)|lung(1)	5						c.(1252-1254)cCg>cTg		matrix metallopeptidase 17 (membrane-inserted)							92	95	94					12																	132334395		2203	4300	6503	SO:0001583	missense	4326				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr12:132334395C>T	X89576	CCDS31927.1	12q24.3	2005-08-08	2005-08-08		ENSG00000198598	ENSG00000198598			7163	protein-coding gene	gene with protein product		602285	"matrix metalloproteinase 17 (membrane-inserted)"			9878265	Standard	NM_016155		Approved	MT4-MMP	uc001ujc.1	Q9ULZ9	OTTHUMG00000168050	ENST00000360564.1:c.1253C>T	12.37:g.132334395C>T	ENSP00000353767:p.Pro418Leu					MMP17_ENST00000535004.1_Intron|MMP17_ENST00000535291.1_Missense_Mutation_p.P334L	p.P418L	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	9	1355	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		418			Hemopexin-like 2.		Q14850	Missense_Mutation	SNP	ENST00000360564.1	37	c.1253C>T	CCDS31927.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.800237	0.90538	.	.	ENSG00000198598	ENST00000360564;ENST00000535291;ENST00000534865;ENST00000542648	T;T;T;T	0.05513	3.43;3.43;3.43;3.43	4.48	4.48	0.54585	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.37156	0.0993	H	0.95260	3.645	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.59021	-0.7532	10	0.87932	D	0	.	17.1756	0.86841	0.0:1.0:0.0:0.0	.	418	Q9ULZ9	MMP17_HUMAN	L	418;334;259;48	ENSP00000353767:P418L;ENSP00000441106:P334L;ENSP00000442104:P259L;ENSP00000439542:P48L	ENSP00000353767:P418L	P	+	2	0	MMP17	130900348	1.000000	0.71417	0.994000	0.49952	0.889000	0.51656	7.727000	0.84838	2.054000	0.61138	0.471000	0.43371	CCG		0.617	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397757.1	NM_016155		5	80	0	0	0	0.001168	0	5	80					T	132334395	C	T	132334395	3	4	81	1	0	0	0	0	1	0	0	0	9656	652	23	1	1287	1	MMP17	12	132334395	Missense_Mutation	SNP	C	TCGA-DJ-A1QE-01A-21D-A14W-08	82849391	132334395	1517500	14	1848											
FAM179B	23116	broad.mit.edu	37	chr14	45542645	45542645	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacagccacagctaaattaTcaaaagcactctttgcacag	6	11	2	0			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr14:45542645T>C	ENST00000361577.3	+	19	5258	c.5044T>C	c.(5044-5046)Tca>Cca	p.S1682P	FAM179B_ENST00000361462.2_Missense_Mutation_p.S1735P|FAM179B_ENST00000382233.2_3'UTR	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1682										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AGCTAAATTATCAAAAGCACT	0.408																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(5203-5205)Tca>Cca		family with sequence similarity 179, member B							118	118	118					14																	45542645		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45542645T>C	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.5044T>C	14.37:g.45542645T>C	ENSP00000355045:p.Ser1682Pro					FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361577.3_Missense_Mutation_p.S1682P	p.S1735P			Q9Y4F4	F179B_HUMAN			20	5386	+			1682					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.5203T>C	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	T	13.82	2.352243	0.41700	.	.	ENSG00000198718	ENST00000361577;ENST00000361462;ENST00000556823	T;T;T	0.64618	2.21;-0.11;2.59	5.78	5.78	0.91487	Armadillo-type fold (1);	0.132092	0.53938	D	0.000049	T	0.71753	0.3377	L	0.46157	1.445	0.80722	D	1	D;D	0.71674	0.988;0.998	P;D	0.65323	0.889;0.934	T	0.73183	-0.4063	10	0.54805	T	0.06	-14.3475	14.332	0.66564	0.0:0.0:0.0:1.0	.	1735;1682	G3XAE9;Q9Y4F4	.;F179B_HUMAN	P	1682;1735;117	ENSP00000355045:S1682P;ENSP00000354917:S1735P;ENSP00000450465:S117P	ENSP00000354917:S1735P	S	+	1	0	FAM179B	44612395	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.555000	0.45854	2.210000	0.71456	0.533000	0.62120	TCA		0.408	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		9	44	0	0	0	0.008291	0	9	44					C	45542645	T	C	45542645	3	2	81	1	0	0	0	0	1	0	0	0	5506	1435	50	3	5118	3	FAM179B	14	45542645	Missense_Mutation	SNP	T	TCGA-DJ-A1QE-01A-21D-A14W-08		45542645	61806895	15	1849											
PPP1R13B	23368	broad.mit.edu	37	chr14	104224043	104224043	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgttgcctagctgccaTatcttggagctctgagaggg	13	10	2	1			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr14:104224043T>C	ENST00000202556.9	-	5	682	c.400A>G	c.(400-402)Atg>Gtg	p.M134V		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	134	Gln-rich.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				CTAGCTGCCATATCTTGGAGC	0.388																																						ENST00000202556.9																			0				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33						c.(400-402)Atg>Gtg		protein phosphatase 1, regulatory subunit 13B							126	119	121					14																	104224043		1873	4101	5974	SO:0001583	missense	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104224043T>C	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14950	protein-coding gene	gene with protein product		606455	"protein phosphatase 1, regulatory (inhibitor) subunit 13B"			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.400A>G	14.37:g.104224043T>C	ENSP00000202556:p.Met134Val						p.M134V	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN			5	682	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	134			Gln-rich.		B2RMX5|O94870	Missense_Mutation	SNP	ENST00000202556.9	37	c.400A>G	CCDS41997.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.535091	0.85812	.	.	ENSG00000088808	ENST00000202556;ENST00000380023;ENST00000555734	T;T	0.30182	1.54;1.54	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.39784	0.1091	L	0.60455	1.87	0.80722	D	1	P	0.40875	0.731	B	0.43950	0.437	T	0.29336	-1.0015	10	0.87932	D	0	.	16.3648	0.83312	0.0:0.0:0.0:1.0	.	134	Q96KQ4	ASPP1_HUMAN	V	134;1;131	ENSP00000202556:M134V;ENSP00000452376:M131V	ENSP00000202556:M134V	M	-	1	0	PPP1R13B	103293796	1.000000	0.71417	0.972000	0.41901	0.993000	0.82548	7.698000	0.84413	2.263000	0.75096	0.533000	0.62120	ATG		0.388	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		4	90	0	0	0	0.000248	0	4	90					C	104224043	T	C	104224043	3	2	81	1	0	0	0	0	1	0	0	0	12357	1406	49	3	2924	3	PPP1R13B	14	104224043	Missense_Mutation	SNP	T	TCGA-DJ-A1QE-01A-21D-A14W-08	58681398	104224043	3125497	16	1850											
PRPF8	10594	broad.mit.edu	37	chr17	1564570	1564570	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctccctctacatacctgatActgcttaaagtcagttctga	6	12	3	2			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr17:1564570A>C	ENST00000572621.1	-	26	4598	c.4333T>G	c.(4333-4335)Tat>Gat	p.Y1445D	PRPF8_ENST00000304992.6_Missense_Mutation_p.Y1445D			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1445	Linker.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CATACCTGATACTGCTTAAAG	0.512																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(4333-4335)Tat>Gat		pre-mRNA processing factor 8							136	121	126					17																	1564570		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1564570A>C	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.4333T>G	17.37:g.1564570A>C	ENSP00000460348:p.Tyr1445Asp					PRPF8_ENST00000304992.6_Missense_Mutation_p.Y1445D	p.Y1445D			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	26	4598	-			1445					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.4333T>G	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	a	16.00	2.998001	0.54147	.	.	ENSG00000174231	ENST00000304992	D	0.85339	-1.97	6.17	6.17	0.99709	Pre-mRNA-processing-splicing factor 8, U6-snRNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.92512	0.7622	M	0.82517	2.595	0.80722	D	1	P	0.50272	0.933	P	0.62885	0.908	D	0.93222	0.6609	10	0.87932	D	0	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	1445	Q6P2Q9	PRP8_HUMAN	D	1445	ENSP00000304350:Y1445D	ENSP00000304350:Y1445D	Y	-	1	0	PRPF8	1511320	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.307000	0.96226	2.371000	0.80710	0.533000	0.62120	TAT		0.512	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			23	100	0	0	0	0.00278	0	23	100					C	1564570	A	C	1564570	3	2	81	1	0	0	0	0	1	0	0	0	12575	391	14	5	2742	5	PRPF8	17	1564570	Missense_Mutation	SNP	A	TCGA-DJ-A1QE-01A-21D-A14W-08		1564570	79630640	17	1851											
NBR1	4077	broad.mit.edu	37	chr17	41342634	41342634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttccccacagcctatgccCatcctacaatatctgtgaag	5	15	1	1			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr17:41342634C>T	ENST00000422280.1	+	9	1163	c.704C>T	c.(703-705)cCa>cTa	p.P235L	NBR1_ENST00000341165.6_Missense_Mutation_p.P235L|NBR1_ENST00000590996.1_Missense_Mutation_p.P235L|NBR1_ENST00000589872.1_Missense_Mutation_p.P235L|NBR1_ENST00000542611.1_Missense_Mutation_p.P214L|NBR1_ENST00000389312.4_Missense_Mutation_p.P235L	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	235					macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		AGCCTATGCCCATCCTACAAT	0.483																																						ENST00000422280.1																			0				NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24						c.(703-705)cCa>cTa		neighbor of BRCA1 gene 1							84	75	78					17																	41342634		1932	4145	6077	SO:0001583	missense	4077				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding	g.chr17:41342634C>T	X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.704C>T	17.37:g.41342634C>T	ENSP00000411250:p.Pro235Leu					NBR1_ENST00000341165.6_Missense_Mutation_p.P235L|NBR1_ENST00000590996.1_Missense_Mutation_p.P235L|NBR1_ENST00000589872.1_Missense_Mutation_p.P235L|NBR1_ENST00000542611.1_Missense_Mutation_p.P214L|NBR1_ENST00000389312.4_Missense_Mutation_p.P235L	p.P235L	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0934)	9	1163	+		Breast(137;0.00086)	235					Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Missense_Mutation	SNP	ENST00000422280.1	37	c.704C>T	CCDS45694.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614392	0.87359	.	.	ENSG00000188554	ENST00000422280;ENST00000542611;ENST00000341165;ENST00000389312;ENST00000389311	D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87	5.96	5.96	0.96718	Zinc finger, ZZ-type (4);	0.175668	0.50627	D	0.000104	D	0.95379	0.8500	M	0.83692	2.655	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.993;0.993;0.977;0.993	D	0.95317	0.8417	10	0.66056	D	0.02	-10.685	15.1722	0.72884	0.1409:0.8591:0.0:0.0	.	235;214;235;235	A8K1U0;B7Z5R6;Q14596-2;Q14596	.;.;.;NBR1_HUMAN	L	235;214;235;235;235	ENSP00000411250:P235L;ENSP00000437545:P214L;ENSP00000343479:P235L;ENSP00000373963:P235L	ENSP00000343479:P235L	P	+	2	0	NBR1	38596160	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.978000	0.56881	2.832000	0.97577	0.655000	0.94253	CCA		0.483	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1	NM_005899		4	10	0	0	0	0.000248	0	4	10					T	41342634	C	T	41342634	3	4	81	1	0	0	0	0	1	0	0	0	10200	594	21	2	734	2	NBR1	17	41342634	Missense_Mutation	SNP	C	TCGA-DJ-A1QE-01A-21D-A14W-08	39778064	41342634	39852576	18	1852											
ITGA3	3675	broad.mit.edu	37	chr17	48156258	48156258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggcatgaaaactgtggagGatgtaggaagccccctcaag	13	9	1	1			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr17:48156258G>A	ENST00000320031.8	+	19	2698	c.2368G>A	c.(2368-2370)Gat>Aat	p.D790N	ITGA3_ENST00000007722.7_Missense_Mutation_p.D790N	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	790					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						AACTGTGGAGGATGTAGGAAG	0.517																																						ENST00000320031.8																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						c.(2368-2370)Gat>Aat		integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)							98	102	101					17																	48156258		2203	4300	6503	SO:0001583	missense	3675				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	g.chr17:48156258G>A	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"CD molecules", "Integrins"	6139	protein-coding gene	gene with protein product		605025	"antigen identified by monoclonal antibody J143"	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.2368G>A	17.37:g.48156258G>A	ENSP00000315190:p.Asp790Asn					ITGA3_ENST00000007722.7_Missense_Mutation_p.D790N	p.D790N	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN			19	2698	+			790					A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	c.2368G>A	CCDS11558.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.5|27.5	4.838836|4.838836	0.91117|0.91117	.|.	.|.	ENSG00000005884|ENSG00000005884	ENST00000007722;ENST00000538917;ENST00000320031|ENST00000506827	T;T|.	0.56776|.	0.44;0.44|.	4.77|4.77	3.79|3.79	0.43588|0.43588	Integrin alpha-2 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72503|0.72503	0.3468|0.3468	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.997|.	D;D|.	0.91635|.	0.999;0.936|.	T|T	0.73827|0.73827	-0.3860|-0.3860	10|5	0.54805|.	T|.	0.06|.	.|.	12.0629|12.0629	0.53572|0.53572	0.0858:0.0:0.9142:0.0|0.0858:0.0:0.9142:0.0	.|.	790;790|.	P26006-1;P26006|.	.;ITA3_HUMAN|.	N|E	790;776;790|168	ENSP00000007722:D790N;ENSP00000315190:D790N|.	ENSP00000007722:D790N|.	D|G	+|+	1|2	0|0	ITGA3|ITGA3	45511257|45511257	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.269000|5.269000	0.65542|0.65542	1.373000|1.373000	0.46208|0.46208	0.491000|0.491000	0.48974|0.48974	GAT|GGA		0.517	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		42	71	0	0	0	0.006999	0	42	71					A	48156258	G	A	48156258	3	1	81	1	0	0	0	0	1	0	0	0	7877	1174	41	2	2442	2	ITGA3	17	48156258	Missense_Mutation	SNP	G	TCGA-DJ-A1QE-01A-21D-A14W-08	6813624	48156258	33038952	19	1853											
PPM1D	8493	broad.mit.edu	37	chr17	58740498	58740499	+	Frame_Shift_Ins	INS	-	-	A													caaggtgtagtcataccctcINSaaaagatccagaaccacttg					rs375975790		TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr17:58740498_58740499insA	ENST00000305921.3	+	6	1635_1636	c.1403_1404insA	c.(1402-1407)tcaaaafs	p.SK468fs	RNU6-623P_ENST00000363143.1_RNA	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	468					G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			GTCATACCCTCAAAAGATCCAG	0.421											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000305921.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15						c.(1402-1404)taafs		protein phosphatase, Mg2+/Mn2+ dependent, 1D																																				SO:0001589	frameshift_variant	8493				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr17:58740498_58740499insA	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9277	protein-coding gene	gene with protein product	"wild-type p53-induced phosphatase 1", "protein phosphatase 2C, delta isoform"	605100	"protein phosphatase 1D magnesium-dependent, delta isoform"			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.1407dupA	17.37:g.58740502_58740502dupA	ENSP00000306682:p.Ser468fs		OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1033		p.*468fs	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		6	1635_1636	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		468					Q53XP4|Q6P991|Q8IVR6	Frame_Shift_Ins	INS	ENST00000305921.3	37	c.1403_1404insA	CCDS11625.1																																																																																				0.421	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620		11	94						11	94	---	---	---	---	A	58740499	-	A	58740498	7	5	81	1	0	1	1	0	0	0	0	0	12337	838	29	0	1425	0	PPM1D	17	58740498	Frame_Shift_Ins	INS	-	TCGA-DJ-A1QE-01A-21D-A14W-08	10584240	58740498	22454712	20	1854											
MED16	10025	broad.mit.edu	37	chr19	889754	889754	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctattagccaggtggtccgCcatgctccagcacttgatct	10	13	1	1			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr19:889754C>T	ENST00000589119.1	-	3	330	c.331G>A	c.(331-333)Gcg>Acg	p.A111T	MED16_ENST00000312090.6_Missense_Mutation_p.A111T|MED16_ENST00000606828.1_Intron|MED16_ENST00000395808.3_Missense_Mutation_p.A111T|MED16_ENST00000269814.4_Missense_Mutation_p.A111T|MED16_ENST00000325464.1_Missense_Mutation_p.A111T			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	111					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|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)		AGGTGGTCCGCCATGCTCCAG	0.617																																						ENST00000312090.6																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(331-333)Gcg>Acg		mediator complex subunit 16							53	40	45					19																	889754		2202	4300	6502	SO:0001583	missense	10025				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	g.chr19:889754C>T	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"WD repeat domain containing"	17556	protein-coding gene	gene with protein product		604062	"thyroid hormone receptor associated protein 5"	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.331G>A	19.37:g.889754C>T	ENSP00000464810:p.Ala111Thr					MED16_ENST00000395808.3_Missense_Mutation_p.A111T|MED16_ENST00000269814.4_Missense_Mutation_p.A111T|MED16_ENST00000325464.1_Missense_Mutation_p.A111T|MED16_ENST00000589119.1_Missense_Mutation_p.A111T|MED16_ENST00000606828.1_Intron	p.A111T			Q9Y2X0	MED16_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)	4	481	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	111					Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	ENST00000589119.1	37	c.331G>A	CCDS12047.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.168109	0.38315	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000534906;ENST00000537596;ENST00000540679;ENST00000538572;ENST00000541440;ENST00000424039	T;T;T;T	0.11712	2.75;2.75;2.75;2.75	4.03	2.86	0.33363	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);WD40-repeat-containing domain (1);	0.425849	0.24930	N	0.034465	T	0.03136	0.0092	N	0.02539	-0.55	0.28557	N	0.91132	B;B;B;B;B	0.10296	0.003;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.003;0.0;0.0;0.001;0.001	T	0.38520	-0.9657	10	0.16420	T	0.52	-2.9385	3.9938	0.09549	0.2232:0.5611:0.0:0.2157	.	111;111;111;111;111	B9TX03;Q9Y2X0-2;E7ETV0;Q9Y2X0-3;Q9Y2X0	.;.;.;.;MED16_HUMAN	T	111	ENSP00000325612:A111T;ENSP00000308528:A111T;ENSP00000379153:A111T;ENSP00000269814:A111T	ENSP00000269814:A111T	A	-	1	0	MED16	840754	1.000000	0.71417	0.988000	0.46212	0.918000	0.54935	1.158000	0.31737	1.814000	0.52955	0.491000	0.48974	GCG		0.617	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481		5	12	0	0	0	0.001168	0	5	12					T	889754	C	T	889754	3	4	81	1	0	0	0	0	1	0	0	0	9434	739	26	2	2354	2	MED16	19	889754	Missense_Mutation	SNP	C	TCGA-DJ-A1QE-01A-21D-A14W-08		889754	58239229	21	1855											
ZNF700	90592	broad.mit.edu	37	chr19	12059975	12059975	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctgccaagtcatttcaaaCacatgaaaaaactcacactg	4	11	4	1			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr19:12059975C>A	ENST00000254321.5	+	4	1279	c.1136C>A	c.(1135-1137)aCa>aAa	p.T379K	CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000482090.1_Missense_Mutation_p.T361K|ZNF763_ENST00000590798.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TCATTTCAAACACATGAAAAA	0.353																																						ENST00000482090.1																		ZNF700/MAST1_ENST00000251472(2)	0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						c.(1081-1083)aCa>aAa		zinc finger protein 700							52	56	55					19																	12059975		2203	4300	6503	SO:0001583	missense	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12059975C>A	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"Zinc fingers, C2H2-type", "-"	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1136C>A	19.37:g.12059975C>A	ENSP00000254321:p.Thr379Lys					ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.T379K|ZNF763_ENST00000591944.1_Intron	p.T361K			Q9H0M5	ZN700_HUMAN			3	1500	+			379					B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	c.1082C>A	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	c	0.001	-3.595136	0.00008	.	.	ENSG00000196757	ENST00000254321	T	0.07216	3.21	0.672	-1.34	0.09143	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02047	0.0064	N	0.02129	-0.67	0.09310	N	1	B	0.30455	0.28	B	0.32090	0.14	T	0.27297	-1.0078	9	0.05721	T	0.95	.	0.7673	0.01017	0.2:0.3636:0.2002:0.2362	.	379	Q9H0M5	ZN700_HUMAN	K	379	ENSP00000254321:T379K	ENSP00000254321:T379K	T	+	2	0	ZNF700	11920975	0.000000	0.05858	0.002000	0.10522	0.153000	0.21895	-5.433000	0.00123	-2.720000	0.00389	-1.865000	0.00557	ACA		0.353	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		3	64	1	0	0.004672	0.004672	0.00563862	3	64					A	12059975	C	A	12059975	3	1	81	1	0	0	0	0	1	0	0	0	18101	478	17	4	1150	4	ZNF700	19	12059975	Missense_Mutation	SNP	C	TCGA-DJ-A1QE-01A-21D-A14W-08	11170221	12059975	47069008	22	1856											
RGL4	266747	broad.mit.edu	37	chr22	24034592	24034592	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actatcagcccccgcaacggTcatctttccggataaagctg	8	14	3	0			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr22:24034592T>C	ENST00000290691.5	+	2	1420	c.250T>C	c.(250-252)Tca>Cca	p.S84P	AP000347.2_ENST00000417194.1_RNA|RGL4_ENST00000401461.1_5'UTR|KB-1572G7.2_ENST00000421064.1_RNA|GUSBP11_ENST00000455485.1_RNA	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	84					small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						CCCGCAACGGTCATCTTTCCG	0.542																																						ENST00000290691.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						c.(250-252)Tca>Cca		ral guanine nucleotide dissociation stimulator-like 4							163	161	162					22																	24034592		2203	4300	6503	SO:0001583	missense	266747				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity	g.chr22:24034592T>C		CCDS13811.1	22q11.23	2008-02-22			ENSG00000159496	ENSG00000159496			31911	protein-coding gene	gene with protein product	"RalGDS related oncogene"	612214				9178890, 10851075	Standard	NM_153615		Approved	Rgr	uc002zxn.3	Q8IZJ4	OTTHUMG00000150711	ENST00000290691.5:c.250T>C	22.37:g.24034592T>C	ENSP00000290691:p.Ser84Pro					GUSBP11_ENST00000417194.1_RNA|RGL4_ENST00000401461.1_5'UTR	p.S84P	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN			2	1420	+			84					Q495L8	Missense_Mutation	SNP	ENST00000290691.5	37	c.250T>C	CCDS13811.1	.	.	.	.	.	.	.	.	.	.	t	4.850	0.158027	0.09236	.	.	ENSG00000159496	ENST00000290691;ENST00000382833;ENST00000423392	T;T	0.58060	0.36;0.36	2.03	-4.07	0.03975	.	1.133490	0.06796	N	0.787811	T	0.43722	0.1260	L	0.29908	0.895	0.09310	N	1	D;D	0.71674	0.996;0.998	D;D	0.65010	0.931;0.914	T	0.42172	-0.9467	10	0.02654	T	1	.	0.305	0.00279	0.3949:0.192:0.1533:0.2598	.	84;84	E9PH87;Q8IZJ4	.;RGDSR_HUMAN	P	84	ENSP00000290691:S84P;ENSP00000402142:S84P	ENSP00000290691:S84P	S	+	1	0	RGL4	22364592	0.012000	0.17670	0.000000	0.03702	0.000000	0.00434	0.617000	0.24359	-1.285000	0.02387	-0.427000	0.05922	TCA		0.542	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319711.1	NM_153615		4	171	0	0	0	0.000248	0	4	171					C	24034592	T	C	24034592	3	2	81	1	0	0	0	0	1	0	0	0	13279	1667	58	3	256	3	RGL4	22	24034592	Missense_Mutation	SNP	T	TCGA-DJ-A1QE-01A-21D-A14W-08		24034592	27269974	23	1857											
ARSE	415	broad.mit.edu	37	chrX	2864076	2864076	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctctacgttgtccccataCagcccgtggagactcttccc	7	17	2	1			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chrX:2864076C>A	ENST00000381134.3	-	7	1020	c.954G>T	c.(952-954)ctG>ctT	p.L318L	ARSE_ENST00000545496.1_Silent_p.L343L|ARSE_ENST00000540563.1_Silent_p.L273L	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	318					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		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)				TGTCCCCATACAGCCCGTGGA	0.498																																						ENST00000545496.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1027-1029)ctG>ctT		arylsulfatase E (chondrodysplasia punctata 1)							120	107	111					X																	2864076		2203	4300	6503	SO:0001819	synonymous_variant	415				skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding	g.chrX:2864076C>A	X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"Arylsulfatase family"	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.954G>T	X.37:g.2864076C>A						ARSE_ENST00000381134.3_Silent_p.L318L|ARSE_ENST00000540563.1_Silent_p.L273L	p.L343L			P51690	ARSE_HUMAN			8	1320	-		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)	318					Q53FT2|Q53FU8	Silent	SNP	ENST00000381134.3	37	c.1029G>T	CCDS14122.1																																																																																				0.498	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047		44	63	1	0	2.77807e-22	0.003214	3.6012e-22	44	63					A	2864076	C	A	2864076	2	1	81	1	0	0	0	0	0	0	0	1	990	465	17	4		4	ARSE	23	2864076	Silent	SNP	C	TCGA-DJ-A1QE-01A-21D-A14W-08		2864076	152406484	24	1858											
USP51	158880	broad.mit.edu	37	chrX	55514742	55514742	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acgctggtagatcaacctcaGgttcttctgccagttcttac	8	12	5	1			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chrX:55514742G>C	ENST00000500968.3	-	2	713	c.631C>G	c.(631-633)Ctg>Gtg	p.L211V	USP51_ENST00000586165.1_Intron	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	211					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						ATCAACCTCAGGTTCTTCTGC	0.502																																						ENST00000500968.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						c.(631-633)Ctg>Gtg		ubiquitin specific peptidase 51							77	63	68					X																	55514742		2203	4300	6503	SO:0001583	missense	158880				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chrX:55514742G>C	BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"Ubiquitin-specific peptidases"	23086	protein-coding gene	gene with protein product			"ubiquitin specific protease 51"			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.631C>G	X.37:g.55514742G>C	ENSP00000423333:p.Leu211Val					USP51_ENST00000586165.1_Intron	p.L211V	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN			2	713	-			211					Q8IWJ8	Missense_Mutation	SNP	ENST00000500968.3	37	c.631C>G	CCDS14370.1	.	.	.	.	.	.	.	.	.	.	.	12.19	1.862429	0.32884	.	.	ENSG00000247746	ENST00000500968	T	0.62788	-0.0	2.93	2.07	0.26955	Zinc finger, RING/FYVE/PHD-type (1);	0.182827	0.27677	U	0.018319	T	0.49949	0.1587	L	0.34521	1.04	0.42954	D	0.994384	P	0.47484	0.896	P	0.44732	0.459	T	0.48151	-0.9060	10	0.54805	T	0.06	.	7.4429	0.27194	0.1426:0.0:0.8574:0.0	.	211	Q70EK9	UBP51_HUMAN	V	211	ENSP00000423333:L211V	ENSP00000423333:L211V	L	-	1	2	USP51	55531467	1.000000	0.71417	0.291000	0.24904	0.800000	0.45204	5.107000	0.64603	0.644000	0.30656	-0.329000	0.08387	CTG		0.502	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286		6	36	0	0	0	0.001168	0	6	36					C	55514742	G	C	55514742	3	2	81	1	0	0	0	0	1	0	0	0	17080	991	35	4	1508	4	USP51	23	55514742	Missense_Mutation	SNP	G	TCGA-DJ-A1QE-01A-21D-A14W-08	52650666	55514742	99755818	25	1859											
ANGPTL1	9068	broad.mit.edu	37	chr1	178834453	178834453	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggattttgttttccagTtgggaaagttcaagtgaatt	11	3	1	2			TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chr1:178834453T>C	ENST00000234816.2	-	3	906	c.459A>G	c.(457-459)caA>caG	p.Q153Q	RALGPS2_ENST00000367634.2_Intron|ANGPTL1_ENST00000367629.1_Silent_p.Q153Q|RALGPS2_ENST00000367635.3_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	153					transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						TGTTTTCCAGTTGGGAAAGTT	0.388																																						ENST00000234816.2																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						c.(457-459)caA>caG		angiopoietin-like 1							104	97	99					1																	178834453		2203	4300	6503	SO:0001819	synonymous_variant	9068					extracellular space	receptor binding	g.chr1:178834453T>C	AF107253	CCDS1327.1	1q25.2	2013-02-06			ENSG00000116194	ENSG00000116194		"Fibrinogen C domain containing"	489	protein-coding gene	gene with protein product	"angioarrestin"	603874		ANGPT3		10025962, 9286704	Standard	NM_004673		Approved	ANG3, AngY, ARP1	uc001gma.3	O95841	OTTHUMG00000035075	ENST00000234816.2:c.459A>G	1.37:g.178834453T>C						ANGPTL1_ENST00000367629.1_Silent_p.Q153Q|RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000367634.2_Intron|RALGPS2_ENST00000324778.4_Intron	p.Q153Q	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN			3	906	-			153					Q5T5Z5	Silent	SNP	ENST00000234816.2	37	c.459A>G	CCDS1327.1																																																																																				0.388	ANGPTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084924.1	NM_004673		11	26	0	0	0	0.000978	0	11	26					C	178834453	T	C	178834453	2	2	82	1	0	0	0	0	0	0	0	1	613	1722	60	3		3	ANGPTL1	1	178834453	Silent	SNP	T	TCGA-DJ-A1QF-01A-12D-A14W-08		178834453	70416168	1	1860											
KCTD3	51133	broad.mit.edu	37	chr1	215792548	215792548	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattactcgatcaatgtgatTtgagcacatctcgctgtgct	8	9	2	2			TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chr1:215792548T>C	ENST00000259154.4	+	17	2095	c.1801T>C	c.(1801-1803)Ttg>Ctg	p.L601L	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	601					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)		TCAATGTGATTTGAGCACATC	0.393																																						ENST00000259154.4																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33						c.(1801-1803)Ttg>Ctg		potassium channel tetramerization domain containing 3							132	135	134					1																	215792548		2203	4300	6503	SO:0001819	synonymous_variant	51133					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr1:215792548T>C	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.1801T>C	1.37:g.215792548T>C						KCTD3_ENST00000495537.1_3'UTR	p.L601L	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)	17	2095	+			601					A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Silent	SNP	ENST00000259154.4	37	c.1801T>C	CCDS1515.1																																																																																				0.393	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		18	88	0	0	0	0.008871	0	18	88					C	215792548	T	C	215792548	2	2	82	1	0	0	0	0	0	0	0	1	8110	1838	64	3		3	KCTD3	1	215792548	Silent	SNP	T	TCGA-DJ-A1QF-01A-12D-A14W-08	36958095	215792548	33458073	2	1861											
SENP7	57337	broad.mit.edu	37	chr3	101090962	101090962	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catctactgtcttacttcgtTgtgagcccctgcaaaagaga	8	11	2	2			TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chr3:101090962T>G	ENST00000394095.2	-	7	739	c.686A>C	c.(685-687)cAa>cCa	p.Q229P	SENP7_ENST00000394094.2_Missense_Mutation_p.Q164P|SENP7_ENST00000348610.3_Missense_Mutation_p.Q196P|SENP7_ENST00000358203.3_Missense_Mutation_p.Q65P|SENP7_ENST00000314261.7_Missense_Mutation_p.Q163P|SENP7_ENST00000394091.1_Missense_Mutation_p.Q65P	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	229						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTTACTTCGTTGTGAGCCCCT	0.348																																						ENST00000394095.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(685-687)cAa>cCa		SUMO1/sentrin specific peptidase 7							114	109	111					3																	101090962		2203	4300	6503	SO:0001583	missense	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101090962T>G		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"SUMO1/sentrin specific protease 7"			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.686A>C	3.37:g.101090962T>G	ENSP00000377655:p.Gln229Pro					SENP7_ENST00000394094.2_Missense_Mutation_p.Q164P|SENP7_ENST00000314261.7_Missense_Mutation_p.Q163P|SENP7_ENST00000358203.3_Missense_Mutation_p.Q65P|SENP7_ENST00000394091.1_Missense_Mutation_p.Q65P|SENP7_ENST00000348610.3_Missense_Mutation_p.Q196P	p.Q229P	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN			7	739	-			229					A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	c.686A>C	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	T	10.49	1.364298	0.24684	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	T;T;T;T;T;T	0.21031	2.12;2.11;2.13;2.03;2.03;2.12	5.1	3.94	0.45596	.	0.420489	0.20548	N	0.090172	T	0.32133	0.0819	L	0.56769	1.78	0.09310	N	1	D;D;D;P	0.57571	0.98;0.98;0.967;0.944	P;P;P;P	0.56088	0.731;0.731;0.791;0.623	T	0.09058	-1.0692	10	0.56958	D	0.05	-2.4716	7.7962	0.29148	0.0:0.0961:0.0:0.9039	.	65;163;196;229	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6	.;.;.;SENP7_HUMAN	P	229;164;163;65;65;196	ENSP00000377655:Q229P;ENSP00000377654:Q164P;ENSP00000313624:Q163P;ENSP00000377651:Q65P;ENSP00000350936:Q65P;ENSP00000342159:Q196P	ENSP00000313624:Q163P	Q	-	2	0	SENP7	102573652	0.914000	0.31030	0.039000	0.18376	0.006000	0.05464	1.358000	0.34102	0.897000	0.36392	-0.361000	0.07541	CAA		0.348	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		3	88	0	0	0	0.004672	0	3	88					G	101090962	T	G	101090962	3	3	82	1	0	0	0	0	1	0	0	0	14051	1812	63	5	2538	5	SENP7	3	101090962	Missense_Mutation	SNP	T	TCGA-DJ-A1QF-01A-12D-A14W-08		101090962	96931468	3	1862											
KIAA0141	9812	broad.mit.edu	37	chr5	141307808	141307808	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcgggtagaacactgctcCtggcacagtcccctggaccg	12	15	0	1			TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chr5:141307808C>A	ENST00000432126.2	+	4	491	c.357C>A	c.(355-357)tcC>tcA	p.S119S	KIAA0141_ENST00000194118.4_Silent_p.S119S	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	119					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	mitochondrion (GO:0005739)				endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACACTGCTCCTGGCACAGTC	0.627																																						ENST00000432126.2																			0				endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16						c.(355-357)tcC>tcA		KIAA0141							108	99	102					5																	141307808		2203	4300	6503	SO:0001819	synonymous_variant	9812				apoptosis|regulation of caspase activity	mitochondrion	protein binding	g.chr5:141307808C>A	BC011269	CCDS4268.1	5q31	2011-05-05			ENSG00000081791	ENSG00000081791			28969	protein-coding gene	gene with protein product	"death ligand signal enhancer"	615741				20563667	Standard	XM_005268549		Approved	DELE	uc003llt.3	Q14154	OTTHUMG00000129662	ENST00000432126.2:c.357C>A	5.37:g.141307808C>A						KIAA0141_ENST00000194118.4_Silent_p.S119S	p.S119S	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	491	+		all_hematologic(541;0.118)	119					Q969R4|Q96EU9	Silent	SNP	ENST00000432126.2	37	c.357C>A	CCDS4268.1																																																																																				0.627	KIAA0141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251863.2	NM_014773		6	58	1	0	3.59834e-05	0.001168	5.1976e-05	6	58					A	141307808	C	A	141307808	2	1	82	1	0	0	0	0	0	0	0	1	8156	668	24	4		4	KIAA0141	5	141307808	Silent	SNP	C	TCGA-DJ-A1QF-01A-12D-A14W-08		141307808	39607452	4	1863											
STC2	8614	broad.mit.edu	37	chr5	172755126	172755126	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtgggttggtggcgtcggtcCcccgcgccgggtcaaaggtg	19	11	1	0			TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chr5:172755126C>G	ENST00000265087.4	-	1	1380	c.71G>C	c.(70-72)gGg>gCg	p.G24A		NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	24					cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGCGTCGGTCCCCCGCGCCGG	0.637																																						ENST00000265087.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25						c.(70-72)gGg>gCg		stanniocalcin 2							102	105	104					5																	172755126		2203	4300	6503	SO:0001583	missense	8614				cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity	g.chr5:172755126C>G	AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.71G>C	5.37:g.172755126C>G	ENSP00000265087:p.Gly24Ala						p.G24A	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		1	1380	-	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	24						Missense_Mutation	SNP	ENST00000265087.4	37	c.71G>C	CCDS4388.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948269	0.73787	.	.	ENSG00000113739	ENST00000265087	.	.	.	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.75199	0.3817	L	0.57536	1.79	0.80722	D	1	D	0.67145	0.996	D	0.67548	0.952	T	0.76705	-0.2861	9	0.56958	D	0.05	-33.512	17.0331	0.86466	0.0:1.0:0.0:0.0	.	24	O76061	STC2_HUMAN	A	24	.	ENSP00000265087:G24A	G	-	2	0	STC2	172687732	1.000000	0.71417	0.991000	0.47740	0.236000	0.25371	6.509000	0.73725	2.554000	0.86153	0.655000	0.94253	GGG		0.637	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252965.1	NM_003714		22	101	0	0	0	0.002299	0	22	101					G	172755126	C	G	172755126	3	3	82	1	0	0	0	0	1	0	0	0	15275	623	22	4	853	4	STC2	5	172755126	Missense_Mutation	SNP	C	TCGA-DJ-A1QF-01A-12D-A14W-08	31447318	172755126	8160134	5	1864											
SRPK2	6733	broad.mit.edu	37	chr7	104782687	104782687	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttcataggagctgctataTgtgtaatcactttctgcatt	8	7	3	0			TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chr7:104782687T>C	ENST00000393651.3	-	11	1398	c.1311A>G	c.(1309-1311)acA>acG	p.T437T	SRPK2_ENST00000357311.3_Silent_p.T426T|SRPK2_ENST00000489828.1_Silent_p.T426T	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						AGCTGCTATATGTGTAATCAC	0.428																																						ENST00000357311.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						c.(1276-1278)acA>acG		SRSF protein kinase 2							196	186	189					7																	104782687		2203	4300	6503	SO:0001819	synonymous_variant	6733				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr7:104782687T>C	U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"SR protein kinase 2", "serine/arginine-rich splicing factor kinase 2"	602980	"SFRS protein kinase 2"			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.1311A>G	7.37:g.104782687T>C						SRPK2_ENST00000393651.3_Silent_p.T437T|SRPK2_ENST00000489828.1_Silent_p.T426T	p.T426T	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN			10	1449	-			426		T -> P (in dbSNP:rs55743527).	Protein kinase.			Silent	SNP	ENST00000393651.3	37	c.1278A>G	CCDS34724.1	.	.	.	.	.	.	.	.	.	.	T	8.959	0.970114	0.18659	.	.	ENSG00000135250	ENST00000477925	.	.	.	5.32	-9.6	0.00553	.	.	.	.	.	T	0.43765	0.1262	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.51309	-0.8722	4	.	.	.	-11.4267	6.6801	0.23115	0.1911:0.5414:0.0771:0.1904	.	.	.	.	V	33	.	.	I	-	1	0	SRPK2	104569923	0.104000	0.21937	0.654000	0.29608	0.991000	0.79684	-0.743000	0.04845	-1.880000	0.01125	-0.375000	0.07067	ATA		0.428	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1	NM_182691		8	139	0	0	0	0.00308	0	8	139					C	104782687	T	C	104782687	2	2	82	1	0	0	0	0	0	0	0	1	15159	1451	51	3		3	SRPK2	7	104782687	Silent	SNP	T	TCGA-DJ-A1QF-01A-12D-A14W-08		104782687	54355976	6	1865											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		30	45	0	0	0	0.008361	0	30	45					T	140453136	A	T	140453136	3	4	82	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A1QF-01A-12D-A14W-08	35670449	140453136	18685527	7	1866											
IFIT1B	439996	broad.mit.edu	37	chr10	91144286	91144286	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacccattatttaaaaggtTtgaaaatagaaaaaatgtcc	5	5	0	2			TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chr10:91144286T>C	ENST00000371809.3	+	2	1296	c.1216T>C	c.(1216-1218)Ttg>Ctg	p.L406L	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	406										endometrium(2)|large_intestine(3)|lung(8)	13						TTTAAAAGGTTTGAAAATAGA	0.363																																						ENST00000371809.3																			0				endometrium(2)|large_intestine(3)|lung(8)	13						c.(1216-1218)Ttg>Ctg		interferon-induced protein with tetratricopeptide repeats 1B							74	77	76					10																	91144286		2203	4300	6503	SO:0001819	synonymous_variant	439996						binding	g.chr10:91144286T>C		CCDS31242.1	10q23.31	2014-05-22	2010-03-22	2010-03-22	ENSG00000204010	ENSG00000204010		"Tetratricopeptide (TTC) repeat domain containing"	23442	protein-coding gene	gene with protein product			"interferon-induced protein with tetratricopeptide repeats 1-like"	IFIT1L			Standard	NM_001010987		Approved	bA149I23.6	uc001kgh.3	Q5T764	OTTHUMG00000018709	ENST00000371809.3:c.1216T>C	10.37:g.91144286T>C						LIPA_ENST00000371837.1_Intron	p.L406L	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN			2	1296	+			406					A7E245	Silent	SNP	ENST00000371809.3	37	c.1216T>C	CCDS31242.1																																																																																				0.363	IFIT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049296.3	NM_001010987		36	66	0	0	0	0.004289	0	36	66					C	91144286	T	C	91144286	2	2	82	1	0	0	0	0	0	0	0	1	7522	1838	64	3		3	IFIT1B	10	91144286	Silent	SNP	T	TCGA-DJ-A1QF-01A-12D-A14W-08		91144286	44390461	8	1867											
OR4C6	219432	broad.mit.edu	37	chr11	55433335	55433335	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttacagctctaaagggcgGcacaaagccctctctacctg	8	14	3	0			TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chr11:55433335G>A	ENST00000314259.3	+	1	722	c.693G>A	c.(691-693)cgG>cgA	p.R231R		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R231R(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CTAAAGGGCGGCACAAAGCCC	0.507																																						ENST00000314259.3																			1	Substitution - coding silent(1)	p.R231R(1)	kidney(1)	breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(691-693)cgG>cgA		olfactory receptor, family 4, subfamily C, member 6							131	125	127					11																	55433335		2200	4296	6496	SO:0001819	synonymous_variant	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433335G>A	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"GPCR / Class A : Olfactory receptors"	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.693G>A	11.37:g.55433335G>A							p.R231R	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	722	+			231					B2RP11|Q6IFD2	Silent	SNP	ENST00000314259.3	37	c.693G>A	CCDS31506.1																																																																																				0.507	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		4	132	0	0	0	0.000602	0	4	132					A	55433335	G	A	55433335	2	1	82	1	0	0	0	0	0	0	0	1	11052	1190	42	2		2	OR4C6	11	55433335	Silent	SNP	G	TCGA-DJ-A1QF-01A-12D-A14W-08		55433335	79573181	9	1868											
SLCO1A2	6579	broad.mit.edu	37	chr12	21467494	21467494	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agtacttactggttcatgagGaaatgaggtagtgattttaa	11	3	1	3			TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chr12:21467494G>C	ENST00000307378.6	-	5	1044	c.324C>G	c.(322-324)ttC>ttG	p.F108L	SLCO1A2_ENST00000452078.1_Missense_Mutation_p.F108L|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.F106L|SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000537524.1_Intron|SLCO1A2_ENST00000458504.1_Intron	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	108					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	GGTTCATGAGGAAATGAGGTA	0.398																																						ENST00000307378.6																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						c.(322-324)ttC>ttG		solute carrier organic anion transporter family, member 1A2							155	141	146					12																	21467494		2203	4300	6503	SO:0001583	missense	6579				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21467494G>C		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"Solute carriers"	10956	protein-coding gene	gene with protein product		602883	"solute carrier family 21 (organic anion transporter), member 3"	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.324C>G	12.37:g.21467494G>C	ENSP00000305974:p.Phe108Leu					SLCO1A2_ENST00000390670.3_Missense_Mutation_p.F106L|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.F108L|SLCO1A2_ENST00000537524.1_Intron|SLCO1A2_ENST00000458504.1_Intron|SLCO1A2_ENST00000473830.1_Intron	p.F108L	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN			5	1044	-			108					Q9UGP7|Q9UL38	Missense_Mutation	SNP	ENST00000307378.6	37	c.324C>G	CCDS8686.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889813	0.72524	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000390670;ENST00000422327;ENST00000453443	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	5.32	0.355	0.16069	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.67154	0.2863	M	0.87617	2.895	0.38331	D	0.943794	P;P;D	0.64830	0.955;0.944;0.994	P;P;D	0.71870	0.657;0.526;0.975	T	0.70396	-0.4883	10	0.66056	D	0.02	.	10.2403	0.43308	0.4831:0.0:0.5169:0.0	.	88;106;108	Q8IV69;P46721-2;P46721	.;.;SO1A2_HUMAN	L	108;108;106;108;108	ENSP00000305974:F108L;ENSP00000393973:F108L;ENSP00000375088:F106L;ENSP00000416190:F108L;ENSP00000409314:F108L	ENSP00000305974:F108L	F	-	3	2	SLCO1A2	21358761	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	0.718000	0.25866	-0.090000	0.12462	0.655000	0.94253	TTC		0.398	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094		3	85	0	0	0	0.004672	0	3	85					C	21467494	G	C	21467494	3	2	82	1	0	0	0	0	1	0	0	0	14722	1165	41	4	1736	4	SLCO1A2	12	21467494	Missense_Mutation	SNP	G	TCGA-DJ-A1QF-01A-12D-A14W-08		21467494	112384401	10	1869											
C12orf48	55010	broad.mit.edu	37	chr12	102559570	102559570	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gatatgcaccaccaccatcaGatcctttaaggacacatgta	6	12	1	1			TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chr12:102559570G>A	ENST00000358383.5	+	6	775	c.730G>A	c.(730-732)Gat>Aat	p.D244N	PARPBP_ENST00000541394.1_Missense_Mutation_p.D321N|PARPBP_ENST00000543784.1_Missense_Mutation_p.D130N|PARPBP_ENST00000378128.3_Missense_Mutation_p.D244N|PARPBP_ENST00000327680.2_Missense_Mutation_p.D163N|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000392911.2_Missense_Mutation_p.D163N			Q9NWS1	PARI_HUMAN	PARP1 binding protein	244					DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(8)|urinary_tract(2)	11						ACCACCATCAGATCCTTTAAG	0.363																																						ENST00000327680.2																			0				endometrium(1)|lung(8)|urinary_tract(2)	11						c.(487-489)Gat>Aat		PARP1 binding protein							131	131	131					12																	102559570		2203	4300	6503	SO:0001583	missense	55010				response to DNA damage stimulus	cytoplasm|nucleus	DNA binding	g.chr12:102559570G>A	AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480			26074	protein-coding gene	gene with protein product	"PARP-1 binding protein"	613687	"chromosome 12 open reading frame 48"	C12orf48		20931645	Standard	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000358383.5:c.730G>A	12.37:g.102559570G>A	ENSP00000351153:p.Asp244Asn					PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000392911.2_Missense_Mutation_p.D163N|PARPBP_ENST00000358383.5_Missense_Mutation_p.D244N|PARPBP_ENST00000543784.1_Missense_Mutation_p.D130N|PARPBP_ENST00000378128.3_Missense_Mutation_p.D244N|PARPBP_ENST00000541394.1_Missense_Mutation_p.D321N	p.D163N	NM_017915.3	NP_060385.3	Q9NWS1	PR1BP_HUMAN			7	950	+			244					B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Missense_Mutation	SNP	ENST00000358383.5	37	c.487G>A	CCDS9090.2	.	.	.	.	.	.	.	.	.	.	G	20.1	3.934873	0.73442	.	.	ENSG00000185480	ENST00000378128;ENST00000327680;ENST00000541394;ENST00000543784;ENST00000358383;ENST00000392911;ENST00000417507;ENST00000412715	T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	6.08	5.19	0.71726	.	0.129506	0.64402	N	0.000001	T	0.58308	0.2113	L	0.50333	1.59	0.52501	D	0.999953	D;P;B;D;B	0.89917	0.998;0.617;0.36;1.0;0.36	D;B;B;D;B	0.77004	0.958;0.403;0.181;0.989;0.181	T	0.57177	-0.7856	10	0.40728	T	0.16	-11.7195	15.2802	0.73778	0.0669:0.0:0.9331:0.0	.	130;321;244;244;244	B4DT40;B4DZ31;Q9NWS1-6;Q9NWS1-7;Q9NWS1	.;.;.;.;PR1BP_HUMAN	N	244;163;321;130;244;163;211;211	ENSP00000367368:D244N;ENSP00000332915:D163N;ENSP00000440850:D321N;ENSP00000444576:D130N;ENSP00000351153:D244N;ENSP00000376643:D163N;ENSP00000411313:D211N;ENSP00000393867:D211N	ENSP00000332915:D163N	D	+	1	0	C12orf48	101083700	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.750000	0.68712	1.575000	0.49775	0.591000	0.81541	GAT		0.363	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397030.2	NM_017915		7	126	0	0	0	0.001984	0	7	126					A	102559570	G	A	102559570	3	1	82	1	0	0	0	0	1	0	0	0	1692	942	33	2	501	2	C12orf48	12	102559570	Missense_Mutation	SNP	G	TCGA-DJ-A1QF-01A-12D-A14W-08	81092076	102559570	31292325	11	1870											
SMG1	23049	broad.mit.edu	37	chr16	18860687	18860687	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtttaagcgtgagaaaagTtgcggaataattccttcagg	12	5	1	1	rs376900887		TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chr16:18860687T>C	ENST00000446231.2	-	36	5887	c.5475A>G	c.(5473-5475)caA>caG	p.Q1825Q	SMG1_ENST00000389467.3_Silent_p.Q1825Q			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1825	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|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)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GTGAGAAAAGTTGCGGAATAA	0.388																																						ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(5473-5475)caA>caG		SMG1 phosphatidylinositol 3-kinase-related kinase		T		0,3744		0,0,1872	99	93	95		5475	0.4	1.0	16		95	1,8213		0,1,4106	no	coding-synonymous	SMG1	NM_015092.4		0,1,5978	CC,CT,TT		0.0122,0.0,0.0084		1825/3662	18860687	1,11957	1872	4107	5979	SO:0001819	synonymous_variant	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18860687T>C	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.5475A>G	16.37:g.18860687T>C						SMG1_ENST00000389467.3_Silent_p.Q1825Q	p.Q1825Q			Q96Q15	SMG1_HUMAN			36	5887	-			1825			FAT.|Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	c.5475A>G	CCDS45430.1																																																																																				0.388	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		7	70	0	0	0	0.00308	0	7	70					C	18860687	T	C	18860687	2	2	82	1	0	0	0	0	0	0	0	1	14795	1722	60	3		3	SMG1	16	18860687	Silent	SNP	T	TCGA-DJ-A1QF-01A-12D-A14W-08		18860687	71494066	12	1871											
PKD1L2	114780	broad.mit.edu	37	chr16	81157274	81157274	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccagagcgctggtctctaGcgtcagcgtgacaatgcaga	12	12	2	3			TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chr16:81157274G>A	ENST00000534142.1	-	0	853				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTGGTCTCTAGCGTCAGCGTG	0.597																																						ENST00000534142.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2							114	114	114					16																	81157274		2038	4195	6233			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81157274G>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81157274G>A						PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA				Q7Z442	PK1L2_HUMAN			0	853	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	ENST00000534142.1	37																																																																																						0.597	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1			4	94	0	0	0	0.000248	0	4	94					A	81157274	G	A	81157274	1	1	82	0	1	0	0	0	0	0	0	0	11965	962	34	2		2	PKD1L2	16	81157274	RNA	SNP	G	TCGA-DJ-A1QF-01A-12D-A14W-08	62296587	81157274	9197479	13	1872											
WDR45L	56270	broad.mit.edu	37	chr17	80579584	80579584	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacgggtggcttctccgtGctggccaggtccacaagctg	13	14	1	0			TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chr17:80579584G>A	ENST00000392325.4	-	6	713	c.519C>T	c.(517-519)agC>agT	p.S173S	WDR45B_ENST00000571835.1_5'UTR	NM_019613.3	NP_062559.2	Q5MNZ6	WIPI3_HUMAN	WD repeat domain 45B	173																	GCTTCTCCGTGCTGGCCAGGT	0.582																																						ENST00000392325.4																			0											c.(517-519)agC>agT		WD repeat domain 45B							85	67	73					17																	80579584		2203	4300	6503	SO:0001819	synonymous_variant	56270							g.chr17:80579584G>A	AF091083	CCDS11815.2	17q25.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000141580	ENSG00000141580		"WD repeat domain containing"	25072	protein-coding gene	gene with protein product		609226	"WDR45-like"	WDR45L		12477932	Standard	NM_019613		Approved	WIPI3	uc002kfq.3	Q5MNZ6	OTTHUMG00000150146	ENST00000392325.4:c.519C>T	17.37:g.80579584G>A						WDR45B_ENST00000571835.1_5'UTR	p.S173S	NM_019613.3	NP_062559.2					6	713	-								O95328|Q2MCP6|Q6IBN2	Silent	SNP	ENST00000392325.4	37	c.519C>T	CCDS11815.2																																																																																				0.582	WDR45B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316536.1	NM_019613		7	35	0	0	0	0.006214	0	7	35					A	80579584	G	A	80579584	2	1	82	1	0	0	0	0	0	0	0	1	17295	1310	46	2		2	WDR45L	17	80579584	Silent	SNP	G	TCGA-DJ-A1QF-01A-12D-A14W-08		80579584	615626	14	1873											
GALNT1	2589	broad.mit.edu	37	chr18	33271056	33271056	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaaagctacaccttacacGtttccaggaggcacagggca	11	12	0	0			TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chr18:33271056G>A	ENST00000269195.5	+	7	1162	c.1059G>A	c.(1057-1059)acG>acA	p.T353T	GALNT1_ENST00000537549.1_Silent_p.T293T	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	353					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.T353T(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						CACCTTACACGTTTCCAGGAG	0.403																																						ENST00000269195.5																			1	Substitution - coding silent(1)	p.T353T(1)	lung(1)	autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						c.(1057-1059)acG>acA		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)							175	170	172					18																	33271056		2203	4299	6502	SO:0001819	synonymous_variant	2589				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr18:33271056G>A		CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4123	protein-coding gene	gene with protein product	"protein-UDP acetylgalactosaminyltransferase 1", "polypeptide GalNAc transferase 1"	602273	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)"			7592619, 12199709	Standard	NM_020474		Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.1059G>A	18.37:g.33271056G>A						GALNT1_ENST00000537549.1_Silent_p.T293T	p.T353T	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN			7	1162	+			353					Q86TJ7|Q9UM86	Silent	SNP	ENST00000269195.5	37	c.1059G>A	CCDS11915.1																																																																																				0.403	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255771.2	NM_020474		9	158	0	0	0	0.004482	0	9	158					A	33271056	G	A	33271056	2	1	82	1	0	0	0	0	0	0	0	1	6207	1132	40	1		1	GALNT1	18	33271056	Silent	SNP	G	TCGA-DJ-A1QF-01A-12D-A14W-08		33271056	44806192	15	1874											
MUC16	94025	broad.mit.edu	37	chr19	9074483	9074483	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgacagtgcttgtctctgtAgcagagctggccacctggga	13	10	1	2			TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chr19:9074483A>G	ENST00000397910.4	-	3	13166	c.12963T>C	c.(12961-12963)gcT>gcC	p.A4321A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4323	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGTCTCTGTAGCAGAGCTGG	0.502																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(12961-12963)gcT>gcC		mucin 16, cell surface associated							99	99	99					19																	9074483		2108	4221	6329	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9074483A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.12963T>C	19.37:g.9074483A>G							p.A4321A	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	13166	-			4323			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.12963T>C	CCDS54212.1																																																																																				0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		14	20	0	0	0	0.00245	0	14	20					G	9074483	A	G	9074483	2	3	82	1	0	0	0	0	0	0	0	1	9973	407	15	3		3	MUC16	19	9074483	Silent	SNP	A	TCGA-DJ-A1QF-01A-12D-A14W-08		9074483	50054500	16	1875											
AFF2	2334	broad.mit.edu	37	chrX	148044403	148044403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccatgactggacaaatcaCatctaccaaacctaagagaa	6	12	2	2			TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chrX:148044403C>T	ENST00000370460.2	+	13	3328	c.2849C>T	c.(2848-2850)aCa>aTa	p.T950I	AFF2_ENST00000286437.5_Missense_Mutation_p.T591I|AFF2_ENST00000342251.3_Missense_Mutation_p.T917I|AFF2_ENST00000370457.5_Missense_Mutation_p.T917I	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	950					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GGACAAATCACATCTACCAAA	0.433																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(2848-2850)aCa>aTa		AF4/FMR2 family, member 2							107	92	97					X																	148044403		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148044403C>T	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.2849C>T	X.37:g.148044403C>T	ENSP00000359489:p.Thr950Ile					AFF2_ENST00000370457.5_Missense_Mutation_p.T917I|AFF2_ENST00000286437.5_Missense_Mutation_p.T591I|AFF2_ENST00000342251.3_Missense_Mutation_p.T917I	p.T950I	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			13	3328	+	Acute lymphoblastic leukemia(192;6.56e-05)		950					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.2849C>T	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.963430	0.34659	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.78	3.0	0.34707	.	0.699047	0.14048	N	0.344921	T	0.48857	0.1523	L	0.47716	1.5	0.31331	N	0.684775	B;B;B;B;B;B	0.17667	0.023;0.004;0.004;0.004;0.019;0.023	B;B;B;B;B;B	0.17433	0.012;0.011;0.011;0.011;0.011;0.018	T	0.48399	-0.9039	10	0.33940	T	0.23	.	2.9128	0.05743	0.1478:0.554:0.1401:0.1581	.	591;915;917;911;940;950	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	I	950;917;917;591	ENSP00000359489:T950I;ENSP00000359486:T917I;ENSP00000345459:T917I;ENSP00000286437:T591I	ENSP00000286437:T591I	T	+	2	0	AFF2	147852099	0.978000	0.34361	0.621000	0.29145	0.137000	0.21094	0.905000	0.28504	0.665000	0.31066	0.600000	0.82982	ACA		0.433	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		6	52	0	0	0	0.001984	0	6	52					T	148044403	C	T	148044403	3	4	82	1	0	0	0	0	1	0	0	0	357	478	17	2	2954	2	AFF2	23	148044403	Missense_Mutation	SNP	C	TCGA-DJ-A1QF-01A-12D-A14W-08		148044403	7226157	17	1876											
PPCS	79717	broad.mit.edu	37	chr1	42925432	42925432	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcatcaagtggtggtggcTaatatccttgagtcacgaca	11	9	2	1			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr1:42925432T>C	ENST00000372561.3	+	3	778	c.771T>C	c.(769-771)gcT>gcC	p.A257A	PPCS_ENST00000372562.1_Silent_p.A84A|PPCS_ENST00000455780.1_Silent_p.A84A|PPCS_ENST00000372556.3_3'UTR|PPCS_ENST00000472013.1_3'UTR	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase	257					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	phosphopantothenate--cysteine ligase activity (GO:0004632)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGGTGGTGGCTAATATCCTTG	0.398																																						ENST00000372561.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(769-771)gcT>gcC		phosphopantothenoylcysteine synthetase							127	120	122					1																	42925432		1873	4111	5984	SO:0001819	synonymous_variant	79717				coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity	g.chr1:42925432T>C	AK021900	CCDS41311.1, CCDS41312.1	1p34.2	2008-02-05			ENSG00000127125	ENSG00000127125	6.3.2.5		25686	protein-coding gene	gene with protein product		609853				11923312	Standard	NM_024664		Approved	FLJ11838	uc001chl.3	Q9HAB8	OTTHUMG00000007332	ENST00000372561.3:c.771T>C	1.37:g.42925432T>C						PPCS_ENST00000372562.1_Silent_p.A84A|PPCS_ENST00000455780.1_Silent_p.A84A|PPCS_ENST00000372556.3_3'UTR|PPCS_ENST00000472013.1_3'UTR	p.A257A	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN			3	778	+	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	257					Q3KQT2|Q5VVM0	Silent	SNP	ENST00000372561.3	37	c.771T>C	CCDS41311.1																																																																																				0.398	PPCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019166.1	NM_024664		3	137	0	0	0	0.115264	0	3	137					C	42925432	T	C	42925432	2	2	83	1	0	0	0	0	0	0	0	1	12305	1509	53	3		3	PPCS	1	42925432	Silent	SNP	T	TCGA-DJ-A1QG-01A-11D-A14W-08		42925432	206325189	1	1877											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290	byFrequency	TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		neuroblastoma RAS viral (v-ras) oncogene homolog							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		55	106	0	0	0	0.870114	0	55	106					C	115256529	T	C	115256529	3	2	83	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-DJ-A1QG-01A-11D-A14W-08	72331097	115256529	133994092	2	1878											
ITGA10	8515	broad.mit.edu	37	chr1	145534935	145534935	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgccctcagctactttggccGaagtgtggatggtcggctag	14	10	1	0			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr1:145534935G>A	ENST00000369304.3	+	15	2013	c.1838G>A	c.(1837-1839)cGa>cAa	p.R613Q	ITGA10_ENST00000538811.1_Missense_Mutation_p.R482Q|ITGA10_ENST00000539363.1_Missense_Mutation_p.R470Q	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	613					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)	p.R613Q(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TACTTTGGCCGAAGTGTGGAT	0.577																																						ENST00000369304.3																			1	Substitution - Missense(1)	p.R613Q(1)	prostate(1)	NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1837-1839)cGa>cAa		integrin, alpha 10							181	151	161					1																	145534935		2203	4300	6503	SO:0001583	missense	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145534935G>A	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"Integrins"	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1838G>A	1.37:g.145534935G>A	ENSP00000358310:p.Arg613Gln					ITGA10_ENST00000538811.1_Missense_Mutation_p.R482Q|ITGA10_ENST00000539363.1_Missense_Mutation_p.R470Q	p.R613Q	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN			15	2013	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		613					B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	c.1838G>A	CCDS918.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916809	0.52546	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.55588	0.51;0.51;0.51	5.07	4.15	0.48705	.	0.085098	0.45361	D	0.000373	T	0.18467	0.0443	N	0.13140	0.3	0.58432	D	0.999999	B;B;D;B	0.54047	0.421;0.132;0.964;0.072	B;B;P;B	0.44623	0.126;0.043;0.455;0.027	T	0.05920	-1.0856	10	0.07482	T	0.82	.	10.8941	0.47012	0.0923:0.0:0.9077:0.0	.	579;482;470;613	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	Q	613;579;470;482	ENSP00000358310:R613Q;ENSP00000439894:R470Q;ENSP00000440011:R482Q	ENSP00000358310:R613Q	R	+	2	0	ITGA10	144246292	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.772000	0.68889	2.542000	0.85734	0.609000	0.83330	CGA		0.577	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		33	73	0	0	0	0.769981	0	33	73					A	145534935	G	A	145534935	3	1	83	1	0	0	0	0	1	0	0	0	7873	1058	37	1	1896	1	ITGA10	1	145534935	Missense_Mutation	SNP	G	TCGA-DJ-A1QG-01A-11D-A14W-08	30278406	145534935	103715686	3	1879											
FLG2	388698	broad.mit.edu	37	chr1	152328852	152328852	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtcttacctgagctagaCccatgctggtcatagcccaa	9	12	2	2			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr1:152328852C>T	ENST00000388718.5	-	3	1482	c.1410G>A	c.(1408-1410)ggG>ggA	p.G470G	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	470	Ser-rich.				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)			CTGAGCTAGACCCATGCTGGT	0.522																																						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.(1408-1410)ggG>ggA		filaggrin family member 2							195	190	191					1																	152328852		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152328852C>T	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.1410G>A	1.37:g.152328852C>T						FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.G470G	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1482	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		470			Ser-rich.		Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.1410G>A	CCDS30861.1																																																																																				0.522	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		6	145	0	0	0	0.248553	0	6	145					T	152328852	C	T	152328852	2	4	83	1	0	0	0	0	0	0	0	1	5923	494	18	2		2	FLG2	1	152328852	Silent	SNP	C	TCGA-DJ-A1QG-01A-11D-A14W-08	6793917	152328852	96921769	4	1880											
C1orf112	55732	broad.mit.edu	37	chr1	169811624	169811624	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctttggatacaggaaaaCaaactgcaattatcgaagtt	8	6	0	0			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr1:169811624C>T	ENST00000286031.6	+	18	2492	c.1792C>T	c.(1792-1794)Caa>Taa	p.Q598*	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Nonsense_Mutation_p.Q598*	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	598										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TACAGGAAAACAAACTGCAAT	0.368																																						ENST00000286031.6																			0				breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34						c.(1792-1794)Caa>Taa		chromosome 1 open reading frame 112							155	146	149					1																	169811624		2203	4300	6503	SO:0001587	stop_gained	55732							g.chr1:169811624C>T	AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.1792C>T	1.37:g.169811624C>T	ENSP00000286031:p.Gln598*					C1orf112_ENST00000359326.4_Nonsense_Mutation_p.Q598*|C1orf112_ENST00000498289.1_3'UTR	p.Q598*	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN			18	2492	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		598					A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Nonsense_Mutation	SNP	ENST00000286031.6	37	c.1792C>T	CCDS1285.1	.	.	.	.	.	.	.	.	.	.	C	44	10.545720	0.99425	.	.	ENSG00000000460	ENST00000359326;ENST00000286031	.	.	.	5.18	5.18	0.71444	.	0.292643	0.38720	N	0.001595	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.8983	15.8076	0.78527	0.0:1.0:0.0:0.0	.	.	.	.	X	598	.	ENSP00000286031:Q598X	Q	+	1	0	C1orf112	168078248	0.175000	0.23083	0.686000	0.30086	0.748000	0.42578	2.225000	0.42954	2.572000	0.86782	0.655000	0.94253	CAA		0.368	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	NM_018186		26	59	0	0	0	0.667858	0	26	59					T	169811624	C	T	169811624	4	4	83	1	0	0	0	0	0	1	0	0	1985	479	17	2	1854	2	C1orf112	1	169811624	Nonsense_Mutation	SNP	C	TCGA-DJ-A1QG-01A-11D-A14W-08	17482772	169811624	79438997	5	1881											
OR6F1	343169	broad.mit.edu	37	chr1	247875916	247875916	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgggaggtgctcaccaAcatcaagatagccacattac	9	11	2	2			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr1:247875916A>G	ENST00000302084.2	-	1	189	c.142T>C	c.(142-144)Ttg>Ctg	p.L48L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GTGCTCACCAACATCAAGATA	0.473																																						ENST00000302084.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47						c.(142-144)Ttg>Ctg		olfactory receptor, family 6, subfamily F, member 1							140	136	137					1																	247875916		2203	4300	6503	SO:0001819	synonymous_variant	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875916A>G	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"GPCR / Class A : Olfactory receptors"	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.142T>C	1.37:g.247875916A>G						RP11-634B7.4_ENST00000449298.1_RNA	p.L48L	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	189	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		48					B2RNV6|Q6IF02|Q96R39	Silent	SNP	ENST00000302084.2	37	c.142T>C	CCDS31095.1																																																																																				0.473	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		9	113	0	0	0	0.307466	0	9	113					G	247875916	A	G	247875916	2	3	83	1	0	0	0	0	0	0	0	1	11201	40	2	3		3	OR6F1	1	247875916	Silent	SNP	A	TCGA-DJ-A1QG-01A-11D-A14W-08	78064292	247875916	1374705	6	1882											
DMP1	1758	broad.mit.edu	37	chr4	88584444	88584444	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caaacccattggggaccaagAtgacaatgactgccaagacg	10	11	0	4			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr4:88584444A>T	ENST00000339673.6	+	6	1613	c.1514A>T	c.(1513-1515)gAt>gTt	p.D505V	RP11-742B18.1_ENST00000506814.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.D489V|RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	505					biomineral tissue development (GO:0031214)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|positive regulation of cell-substrate adhesion (GO:0010811)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GGGGACCAAGATGACAATGAC	0.413																																						ENST00000339673.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32						c.(1513-1515)gAt>gTt		dentin matrix acidic phosphoprotein 1							153	151	152					4																	88584444		2203	4300	6503	SO:0001583	missense	1758				biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	g.chr4:88584444A>T	U34037	CCDS3623.1, CCDS43249.1	4q21	2008-08-29	2008-08-29		ENSG00000152592	ENSG00000152592			2932	protein-coding gene	gene with protein product		600980	"dentin matrix acidic phosphoprotein"			8586437, 9177774	Standard	NM_001079911		Approved		uc003hqv.3	Q13316	OTTHUMG00000130598	ENST00000339673.6:c.1514A>T	4.37:g.88584444A>T	ENSP00000340935:p.Asp505Val					RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.D489V|RP11-742B18.1_ENST00000507894.1_RNA	p.D505V	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000516)	6	1613	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)	505					A1L4L3|O43265	Missense_Mutation	SNP	ENST00000339673.6	37	c.1514A>T	CCDS3623.1	.	.	.	.	.	.	.	.	.	.	A	13.23	2.175942	0.38413	.	.	ENSG00000152592	ENST00000339673;ENST00000282479	T;T	0.60040	0.22;0.22	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000013	T	0.71945	0.3400	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74487	-0.3649	10	0.87932	D	0	-21.1106	14.5734	0.68229	1.0:0.0:0.0:0.0	.	489;505	Q13316-2;Q13316	.;DMP1_HUMAN	V	505;489	ENSP00000340935:D505V;ENSP00000282479:D489V	ENSP00000282479:D489V	D	+	2	0	DMP1	88803468	1.000000	0.71417	0.995000	0.50966	0.311000	0.27955	5.942000	0.70203	2.264000	0.75181	0.533000	0.62120	GAT		0.413	DMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253047.1			56	88	0	0	0	0.870114	0	56	88					T	88584444	A	T	88584444	3	4	83	1	0	0	0	0	1	0	0	0	4583	333	12	5	1532	5	DMP1	4	88584444	Missense_Mutation	SNP	A	TCGA-DJ-A1QG-01A-11D-A14W-08		88584444	102569832	7	1883											
C6orf211	79624	broad.mit.edu	37	chr6	151779565	151779565	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccttggttgagaaatttgttGatactgatatatggaatcag	10	4	1	3			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr6:151779565G>C	ENST00000367294.3	+	3	509	c.250G>C	c.(250-252)Gat>Cat	p.D84H	C6orf211_ENST00000545879.1_5'UTR|C6orf211_ENST00000483931.1_3'UTR	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	84										breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		GAAATTTGTTGATACTGATAT	0.363																																						ENST00000367294.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15						c.(250-252)Gat>Cat		chromosome 6 open reading frame 211							97	99	98					6																	151779565		2203	4299	6502	SO:0001583	missense	79624						protein binding	g.chr6:151779565G>C	AJ420548	CCDS5233.1, CCDS69224.1	6q25.1	2013-01-07			ENSG00000146476	ENSG00000146476			17872	protein-coding gene	gene with protein product							Standard	NM_001286562		Approved	FLJ12910	uc003qok.1	Q9H993	OTTHUMG00000015838	ENST00000367294.3:c.250G>C	6.37:g.151779565G>C	ENSP00000356263:p.Asp84His					C6orf211_ENST00000545879.1_5'UTR|C6orf211_ENST00000483931.1_3'UTR	p.D84H	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)	3	509	+			84					Q96FC6|Q9UFY5	Missense_Mutation	SNP	ENST00000367294.3	37	c.250G>C	CCDS5233.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881373	0.51801	.	.	ENSG00000146476	ENST00000367294	T	0.07444	3.19	5.69	5.69	0.88448	Domain of unknown function DUF89 (2);	0.000000	0.85682	D	0.000000	T	0.32346	0.0826	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.31861	-0.9928	10	0.87932	D	0	.	19.8155	0.96566	0.0:0.0:1.0:0.0	.	84	Q9H993	CF211_HUMAN	H	84	ENSP00000356263:D84H	ENSP00000356263:D84H	D	+	1	0	C6orf211	151821258	1.000000	0.71417	0.972000	0.41901	0.983000	0.72400	9.869000	0.99810	2.691000	0.91804	0.563000	0.77884	GAT		0.363	C6orf211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042724.1	NM_024573		29	50	0	0	0	0.729181	0	29	50					C	151779565	G	C	151779565	3	2	83	1	0	0	0	0	1	0	0	0	2354	1290	45	4	260	4	C6orf211	6	151779565	Missense_Mutation	SNP	G	TCGA-DJ-A1QG-01A-11D-A14W-08		151779565	19335502	8	1884											
THBS2	7058	broad.mit.edu	37	chr6	169637364	169637364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagttgcagagacggatgcGtgtgatattgccaactccac	13	9	0	2			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr6:169637364G>A	ENST00000366787.3	-	10	1627	c.1378C>T	c.(1378-1380)Cgc>Tgc	p.R460C	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	460	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		AGACGGATGCGTGTGATATTG	0.607																																					Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			0				NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(1378-1380)Cgc>Tgc		thrombospondin 2							69	66	67					6																	169637364		2202	4300	6502	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169637364G>A		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.1378C>T	6.37:g.169637364G>A	ENSP00000355751:p.Arg460Cys					XXyac-YX65C7_A.2_ENST00000444188.1_RNA	p.R460C	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	10	1627	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	460			TSP type-1 2.		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.1378C>T	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	g	14.20	2.464989	0.43839	.	.	ENSG00000186340	ENST00000366787	T	0.80909	-1.43	4.07	3.16	0.36331	.	0.000000	0.41194	U	0.000936	D	0.92172	0.7518	H	0.98996	4.395	0.53005	D	0.999963	D	0.89917	1.0	D	0.80764	0.994	D	0.94092	0.7354	10	0.87932	D	0	-48.1646	12.9305	0.58284	0.0:0.0:0.8362:0.1638	.	460	P35442	TSP2_HUMAN	C	460	ENSP00000355751:R460C	ENSP00000355751:R460C	R	-	1	0	THBS2	169379289	1.000000	0.71417	0.200000	0.23457	0.143000	0.21401	4.798000	0.62510	0.773000	0.33404	0.558000	0.71614	CGC		0.607	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		23	25	0	0	0	0.608945	0	23	25					A	169637364	G	A	169637364	3	1	83	1	0	0	0	0	1	0	0	0	15851	1145	40	1	2196	1	THBS2	6	169637364	Missense_Mutation	SNP	G	TCGA-DJ-A1QG-01A-11D-A14W-08	17857799	169637364	1477703	9	1885											
TMEM38B	55151	broad.mit.edu	37	chr9	108483839	108483839	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatattacatttttttgcccGcatgacctagtttcccaggg	7	10	0	1	rs141978983		TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr9:108483839G>A	ENST00000374692.3	+	3	408	c.291G>A	c.(289-291)ccG>ccA	p.P97P	TMEM38B_ENST00000374688.1_Silent_p.P43P	NM_018112.1	NP_060582.1	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	97						integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						TTTTTTGCCCGCATGACCTAG	0.353																																						ENST00000374688.1																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						c.(127-129)ccG>ccA		transmembrane protein 38B		G		0,4404		0,0,2202	78	72	74		291	-5.9	0.0	9	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TMEM38B	NM_018112.1		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		97/292	108483839	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	55151					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr9:108483839G>A	BC031938	CCDS6768.1	9q31.3	2013-05-23	2004-12-21	2004-12-22	ENSG00000095209	ENSG00000095209			25535	protein-coding gene	gene with protein product		611236	"chromosome 9 open reading frame 87"	C9orf87		17611541, 23316006	Standard	NM_018112		Approved	FLJ10493, bA219P18.1, D4Ertd89e, TRIC-B	uc004bcu.2	Q9NVV0	OTTHUMG00000020429	ENST00000374692.3:c.291G>A	9.37:g.108483839G>A						TMEM38B_ENST00000374692.3_Silent_p.P97P	p.P43P			Q9NVV0	TM38B_HUMAN			3	839	+			97					Q5JR63|Q5SVN5|Q5SVN6|Q5VTE2|Q6IA97	Silent	SNP	ENST00000374692.3	37	c.129G>A	CCDS6768.1	.	.	.	.	.	.	.	.	.	.	G	0.028	-1.352536	0.01256	0.0	1.16E-4	ENSG00000095209	ENST00000435034	.	.	.	5.74	-5.94	0.02247	.	.	.	.	.	T	0.34890	0.0913	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36915	-0.9728	4	.	.	.	-14.4034	0.9743	0.01423	0.2911:0.107:0.187:0.415	.	.	.	.	H	34	.	.	R	+	2	0	TMEM38B	107523660	0.003000	0.15002	0.002000	0.10522	0.015000	0.08874	0.084000	0.14891	-1.309000	0.02315	-1.311000	0.01308	CGC		0.353	TMEM38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053517.1	NM_018112		3	38	0	0	0	0.115264	0	3	38					A	108483839	G	A	108483839	2	1	83	1	0	0	0	0	0	0	0	1	16157	1074	38	1		1	TMEM38B	9	108483839	Silent	SNP	G	TCGA-DJ-A1QG-01A-11D-A14W-08		108483839	32729592	10	1886											
MS4A12	54860	broad.mit.edu	37	chr11	60274284	60274284	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgtgccacagcccattttgcCaaccaagcaaacaccacaac	5	16	0	0			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr11:60274284C>G	ENST00000016913.4	+	6	729	c.672C>G	c.(670-672)gcC>gcG	p.A224A	MS4A12_ENST00000537076.1_Silent_p.A178A	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	224						integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						CCCATTTTGCCAACCAAGCAA	0.418																																						ENST00000016913.4																			0				breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						c.(670-672)gcC>gcG		membrane-spanning 4-domains, subfamily A, member 12							111	98	102					11																	60274284		2203	4300	6503	SO:0001819	synonymous_variant	54860					integral to membrane	receptor activity	g.chr11:60274284C>G	AK000224	CCDS7988.1, CCDS53638.1	11q12	2008-03-25				ENSG00000071203			13370	protein-coding gene	gene with protein product		606550				11401424, 11486273	Standard	NM_017716		Approved	Ms4a10, FLJ20217	uc001npr.3	Q9NXJ0		ENST00000016913.4:c.672C>G	11.37:g.60274284C>G						MS4A12_ENST00000537076.1_Silent_p.A178A	p.A224A	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN			6	729	+			224					F5GX98|Q8N6L4	Silent	SNP	ENST00000016913.4	37	c.672C>G	CCDS7988.1																																																																																				0.418	MS4A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383627.1			11	39	0	0	0	0.435327	0	11	39					G	60274284	C	G	60274284	2	3	83	1	0	0	0	0	0	0	0	1	9856	581	21	4		4	MS4A12	11	60274284	Silent	SNP	C	TCGA-DJ-A1QG-01A-11D-A14W-08		60274284	74732232	11	1887											
HTR3A	3359	broad.mit.edu	37	chr11	113853948	113853948	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgactgcctgtagcctcgacAtctacaacttccccttcgat	6	15	1	1			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr11:113853948A>G	ENST00000504030.2	+	5	926	c.481A>G	c.(481-483)Atc>Gtc	p.I161V	HTR3A_ENST00000506841.2_Missense_Mutation_p.I161V|HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000375498.2_Missense_Mutation_p.I167V|HTR3A_ENST00000355556.2_Missense_Mutation_p.I167V|HTR3A_ENST00000299961.5_Missense_Mutation_p.I146V			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	161					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	TAGCCTCGACATCTACAACTT	0.547																																						ENST00000504030.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(481-483)Atc>Gtc		5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						210	191	197					11																	113853948		2201	4296	6497	SO:0001583	missense	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113853948A>G	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5297	protein-coding gene	gene with protein product		182139	"5-hydroxytryptamine (serotonin) receptor 3A"	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.481A>G	11.37:g.113853948A>G	ENSP00000424189:p.Ile161Val					HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000299961.5_Missense_Mutation_p.I146V|HTR3A_ENST00000355556.2_Missense_Mutation_p.I167V|HTR3A_ENST00000375498.2_Missense_Mutation_p.I167V|HTR3A_ENST00000506841.2_Missense_Mutation_p.I161V	p.I161V			P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	5	926	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	161					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37	c.481A>G		.	.	.	.	.	.	.	.	.	.	A	20.5	4.003616	0.74932	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000299961	T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04	5.39	5.39	0.77823	.	0.048867	0.85682	D	0.000000	T	0.67979	0.2951	N	0.20483	0.58	0.80722	D	1	P;P;P	0.50617	0.937;0.712;0.937	P;B;P	0.49276	0.605;0.279;0.605	T	0.67039	-0.5771	10	0.02654	T	1	-34.4885	15.4143	0.74952	1.0:0.0:0.0:0.0	.	146;167;167	B4DSY6;G5E986;Q7KZM7	.;.;.	V	161;167;167;161;146	ENSP00000424189:I161V;ENSP00000347754:I167V;ENSP00000364648:I167V;ENSP00000424776:I161V;ENSP00000299961:I146V	ENSP00000299961:I146V	I	+	1	0	HTR3A	113359158	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	9.283000	0.95860	2.048000	0.60808	0.454000	0.30748	ATC		0.547	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		9	142	0	0	0	0.307466	0	9	142					G	113853948	A	G	113853948	3	3	83	1	0	0	0	0	1	0	0	0	7444	217	8	3	543	3	HTR3A	11	113853948	Missense_Mutation	SNP	A	TCGA-DJ-A1QG-01A-11D-A14W-08	53579664	113853948	21152568	12	1888											
INHBC	3626	broad.mit.edu	37	chr12	57843479	57843479	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgactgccaaggagggtccAggatgtgctgtcgacaagag	15	9	0	1			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr12:57843479A>G	ENST00000309668.2	+	2	860	c.733A>G	c.(733-735)Agg>Ggg	p.R245G		NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	245					growth (GO:0040007)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	transforming growth factor beta receptor binding (GO:0005160)			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						AGGAGGGTCCAGGATGTGCTG	0.577																																						ENST00000309668.2																			0				breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						c.(733-735)Agg>Ggg		inhibin, beta C							105	93	97					12																	57843479		2203	4300	6503	SO:0001583	missense	3626				growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding	g.chr12:57843479A>G		CCDS8938.1	12q13	2008-02-05				ENSG00000175189			6068	protein-coding gene	gene with protein product		601233				7826378	Standard	NM_005538		Approved		uc001snv.1	P55103	OTTHUMG00000169994	ENST00000309668.2:c.733A>G	12.37:g.57843479A>G	ENSP00000308716:p.Arg245Gly					INHBC_ENST00000550133.1_Intron	p.R245G	NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN			2	860	+			245					A1L3Y2	Missense_Mutation	SNP	ENST00000309668.2	37	c.733A>G	CCDS8938.1	.	.	.	.	.	.	.	.	.	.	A	11.99	1.803721	0.31869	.	.	ENSG00000175189	ENST00000309668	T	0.62788	0.0	3.89	2.73	0.32206	Transforming growth factor-beta, C-terminal (2);	0.394214	0.25711	N	0.028812	T	0.44829	0.1312	L	0.34521	1.04	0.30222	N	0.796733	B	0.30563	0.285	B	0.31495	0.131	T	0.36866	-0.9730	9	.	.	.	-10.526	5.4758	0.16695	0.7258:0.1789:0.0953:0.0	.	245	P55103	INHBC_HUMAN	G	245	ENSP00000308716:R245G	.	R	+	1	2	INHBC	56129746	0.000000	0.05858	0.998000	0.56505	0.966000	0.64601	0.910000	0.28571	0.837000	0.34925	0.528000	0.53228	AGG		0.577	INHBC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406770.1	NM_005538		19	48	0	0	0	0.557998	0	19	48					G	57843479	A	G	57843479	3	3	83	1	0	0	0	0	1	0	0	0	7743	179	7	3	739	3	INHBC	12	57843479	Missense_Mutation	SNP	A	TCGA-DJ-A1QG-01A-11D-A14W-08		57843479	76008416	13	1889											
MBD6	114785	broad.mit.edu	37	chr12	57919484	57919484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgccctctgacctgggctctCctccggcccctcatgcctcc	8	21	3	1			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr12:57919484C>T	ENST00000355673.3	+	6	1089	c.733C>T	c.(733-735)Cct>Tct	p.P245S	MBD6_ENST00000431731.2_Missense_Mutation_p.P245S	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	245	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCTGGGCTCTCCTCCGGCCCC	0.612																																						ENST00000355673.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						c.(733-735)Cct>Tct		methyl-CpG binding domain protein 6							132	154	147					12																	57919484		2203	4300	6503	SO:0001583	missense	0					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57919484C>T	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.733C>T	12.37:g.57919484C>T	ENSP00000347896:p.Pro245Ser					MBD6_ENST00000431731.2_Missense_Mutation_p.P245S	p.P245S	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN			6	1089	+			245			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	ENST00000355673.3	37	c.733C>T	CCDS8944.1	.	.	.	.	.	.	.	.	.	.	c	10.48	1.361878	0.24684	.	.	ENSG00000166987	ENST00000355673;ENST00000431731	.	.	.	3.1	1.15	0.20763	.	0.730153	0.10118	U	0.713727	T	0.20088	0.0483	N	0.08118	0	0.29836	N	0.829619	B;B	0.15141	0.012;0.012	B;B	0.15484	0.013;0.013	T	0.31364	-0.9946	8	.	.	.	-0.495	6.5172	0.22254	0.0:0.7361:0.0:0.2639	.	245;245	Q6P0P0;Q96DN6	.;MBD6_HUMAN	S	245	.	.	P	+	1	0	MBD6	56205751	0.863000	0.29885	0.987000	0.45799	0.842000	0.47809	0.455000	0.21843	0.290000	0.22444	0.444000	0.29173	CCT		0.612	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			4	226	0	0	0	0.150653	0	4	226					T	57919484	C	T	57919484	3	4	83	1	0	0	0	0	1	0	0	0	9348	855	30	2	747	2	MBD6	12	57919484	Missense_Mutation	SNP	C	TCGA-DJ-A1QG-01A-11D-A14W-08	76005	57919484	75932411	14	1890											
C16orf91	283951	broad.mit.edu	37	chr16	1470345	1470345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtctcaaccactggtccgCctcgctctcctccctcaggt	7	19	3	0			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr16:1470345C>T	ENST00000442039.2	-	2	377	c.301G>A	c.(301-303)Gcg>Acg	p.A101T	C16orf91_ENST00000563974.1_Missense_Mutation_p.A34T|C16orf91_ENST00000310355.1_Missense_Mutation_p.A258T	NM_001272051.1	NP_001258980.1	Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	101						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						CACTGGTCCGCCTCGCTCTCC	0.617																																						ENST00000310355.1																			0				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(772-774)Gcg>Acg		chromosome 16 open reading frame 91							109	112	111					16																	1470345		2199	4300	6499	SO:0001583	missense	283951					integral to membrane		g.chr16:1470345C>T	BC023590	CCDS61789.1	16p13.3	2012-10-10			ENSG00000174109	ENSG00000174109			27558	protein-coding gene	gene with protein product	"cattle cerebrum and skeletal muscle-specific protein 1 family member"						Standard	NM_001272051		Approved	gs103, CCSMST1	uc002clr.4	Q4G0I0		ENST00000442039.2:c.301G>A	16.37:g.1470345C>T	ENSP00000413100:p.Ala101Thr					C16orf91_ENST00000563974.1_Missense_Mutation_p.A34T|C16orf91_ENST00000442039.2_Missense_Mutation_p.A101T	p.A258T			Q4G0I0	CSMT1_HUMAN			4	771	-			101					Q96RZ0	Missense_Mutation	SNP	ENST00000442039.2	37	c.772G>A		.	.	.	.	.	.	.	.	.	.	C	6.098	0.386317	0.11524	.	.	ENSG00000174109	ENST00000442039;ENST00000310355	.	.	.	5.31	-10.6	0.00265	.	1.740200	0.03635	N	0.238596	T	0.23649	0.0572	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.12837	-1.0532	8	0.44086	T	0.13	-0.1853	5.7385	0.18079	0.1804:0.5903:0.0909:0.1385	.	101	Q4G0I0	CSMT1_HUMAN	T	101;258	.	ENSP00000311390:A258T	A	-	1	0	C16orf91	1410346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.631000	0.00871	-2.359000	0.00611	-0.982000	0.02568	GCG		0.617	C16orf91-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432502.1	NM_001010878		41	73	0	0	0	0.864702	0	41	73					T	1470345	C	T	1470345	3	4	83	1	0	0	0	0	1	0	0	0	1844	739	26	2	304	2	C16orf91	16	1470345	Missense_Mutation	SNP	C	TCGA-DJ-A1QG-01A-11D-A14W-08		1470345	88884408	15	1891											
NOMO1	23420	broad.mit.edu	37	chr16	14958553	14958553	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcctttgtacagttcttgGcatcagtttctgggaaagtc	11	8	3	0			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr16:14958553G>T	ENST00000287667.7	+	13	1678	c.1507G>T	c.(1507-1509)Gca>Tca	p.A503S		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	503						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						ACAGTTCTTGGCATCAGTTTC	0.468																																						ENST00000287667.7																			0				endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						c.(1507-1509)Gca>Tca		NODAL modulator 1							182	177	179					16																	14958553		2194	4299	6493	SO:0001583	missense	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14958553G>T	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.1507G>T	16.37:g.14958553G>T	ENSP00000287667:p.Ala503Ser						p.A503S	NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN			13	1678	+			503					P78421|Q8IW21|Q96DG0	Missense_Mutation	SNP	ENST00000287667.7	37	c.1507G>T	CCDS10556.1	.	.	.	.	.	.	.	.	.	.	.	17.76	3.469630	0.63625	.	.	ENSG00000103512	ENST00000287667;ENST00000456867;ENST00000536948	T	0.05258	3.47	3.21	3.21	0.36854	.	0.000000	0.85682	D	0.000000	T	0.17959	0.0431	M	0.77103	2.36	0.58432	D	0.999999	D	0.62365	0.991	P	0.58210	0.835	T	0.04723	-1.0931	10	0.27082	T	0.32	-16.4363	12.3445	0.55114	0.0:0.0:1.0:0.0	.	503	Q15155	NOMO1_HUMAN	S	503;503;336	ENSP00000287667:A503S	ENSP00000287667:A503S	A	+	1	0	NOMO1	14866054	1.000000	0.71417	0.799000	0.32177	0.923000	0.55619	6.538000	0.73852	1.780000	0.52325	0.392000	0.25879	GCA		0.468	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			63	151	1	0	1.49723e-40	0.870114	1.87154e-40	63	151					T	14958553	G	T	14958553	3	4	83	1	0	0	0	0	1	0	0	0	10531	1203	42	4	1557	4	NOMO1	16	14958553	Missense_Mutation	SNP	G	TCGA-DJ-A1QG-01A-11D-A14W-08	13488208	14958553	75396200	16	1892											
CDH11	1009	broad.mit.edu	37	chr16	65016141	65016141	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	attgctgataaacttcgggtCgatgtgcacgttggctgcct	12	9	0	1			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr16:65016141C>A	ENST00000268603.4	-	8	1678	c.1063G>T	c.(1063-1065)Gac>Tac	p.D355Y	CDH11_ENST00000394156.3_Missense_Mutation_p.D355Y|CDH11_ENST00000566827.1_Missense_Mutation_p.D229Y	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	355	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)		AACTTCGGGTCGATGTGCACG	0.468			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.(1063-1065)Gac>Tac		cadherin 11, type 2, OB-cadherin (osteoblast)							135	107	116					16																	65016141		2203	4300	6503	SO:0001583	missense	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.chr16:65016141C>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.1063G>T	16.37:g.65016141C>A	ENSP00000268603:p.Asp355Tyr	TSP Lung(24;0.17)				CDH11_ENST00000566827.1_Missense_Mutation_p.D229Y|CDH11_ENST00000268603.4_Missense_Mutation_p.D355Y	p.D355Y			P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	8	1516	-		Ovarian(137;0.0973)	355			Cadherin 3.		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.1063G>T	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663470	0.88251	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.20200	2.09;2.09	5.61	5.61	0.85477	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.60715	0.2290	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.981;0.997	T	0.70908	-0.4744	10	0.66056	D	0.02	.	18.9874	0.92777	0.0:1.0:0.0:0.0	.	355;355	P55287-2;P55287	.;CAD11_HUMAN	Y	355;355;338	ENSP00000268603:D355Y;ENSP00000377711:D355Y	ENSP00000268603:D355Y	D	-	1	0	CDH11	63573642	1.000000	0.71417	0.995000	0.50966	0.954000	0.61252	7.370000	0.79589	2.813000	0.96785	0.655000	0.94253	GAC		0.468	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		29	47	1	0	9.39395e-14	0.706142	1.08392e-13	29	47					A	65016141	C	A	65016141	3	1	83	1	0	0	0	0	1	0	0	0	3097	884	31	4	1351	4	CDH11	16	65016141	Missense_Mutation	SNP	C	TCGA-DJ-A1QG-01A-11D-A14W-08	50057588	65016141	25338612	17	1893											
TMEM101	84336	broad.mit.edu	37	chr17	42090386	42090386	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccccaacataccacacagatGaggtagatacccaggaacac	7	14	0	3			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr17:42090386G>T	ENST00000589334.1	-	4	771	c.456C>A	c.(454-456)ctC>ctA	p.L152L	TMEM101_ENST00000206380.3_Silent_p.L152L|TMEM101_ENST00000542039.1_Silent_p.L94L|TMEM101_ENST00000587529.1_Silent_p.L152L			Q96IK0	TM101_HUMAN	transmembrane protein 101	152					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Breast(137;0.0264)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CCACACAGATGAGGTAGATAC	0.597																																						ENST00000589334.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(454-456)ctC>ctA		transmembrane protein 101							89	55	66					17																	42090386		2203	4300	6503	SO:0001819	synonymous_variant	84336				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity	g.chr17:42090386G>T	AK172826	CCDS11474.1	17q21.31	2005-12-16							28653	protein-coding gene	gene with protein product						12761501	Standard	NM_032376		Approved	MGC4251, FLJ23987	uc002ieu.3	Q96IK0		ENST00000589334.1:c.456C>A	17.37:g.42090386G>T						TMEM101_ENST00000587529.1_Silent_p.L152L|TMEM101_ENST00000206380.3_Silent_p.L152L|TMEM101_ENST00000542039.1_Silent_p.L94L	p.L152L			Q96IK0	TM101_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	4	771	-		Breast(137;0.0264)|Prostate(33;0.0861)	152					B2R9N6	Silent	SNP	ENST00000589334.1	37	c.456C>A	CCDS11474.1																																																																																				0.597	TMEM101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457665.1	NM_032376		3	29	1	0	0.004672	0.115264	0.00500571	3	29					T	42090386	G	T	42090386	2	4	83	1	0	0	0	0	0	0	0	1	16013	1277	45	4		4	TMEM101	17	42090386	Silent	SNP	G	TCGA-DJ-A1QG-01A-11D-A14W-08		42090386	39104824	18	1894											
PTPN2	5771	broad.mit.edu	37	chr18	12817199	12817199	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagaaggtgccagagcgccCaatgcctgcactacagtgga	13	11	0	2			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr18:12817199C>A	ENST00000309660.5	-	6	754	c.661G>T	c.(661-663)Ggg>Tgg	p.G221W	PTPN2_ENST00000327283.3_Missense_Mutation_p.G221W|PTPN2_ENST00000591115.1_Missense_Mutation_p.G244W|PTPN2_ENST00000591497.1_Missense_Mutation_p.G192W|PTPN2_ENST00000353319.4_Missense_Mutation_p.G221W	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	221	Substrate binding. {ECO:0000250}.|Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|erythrocyte differentiation (GO:0030218)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemotaxis (GO:0050922)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of interleukin-2-mediated signaling pathway (GO:1902206)|negative regulation of interleukin-4-mediated signaling pathway (GO:1902215)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage colony-stimulating factor signaling pathway (GO:1902227)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of positive thymic T cell selection (GO:1902233)|negative regulation of prolactin signaling pathway (GO:1902212)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|negative regulation of tyrosine phosphorylation of Stat1 protein (GO:0042512)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|negative regulation of tyrosine phosphorylation of Stat6 protein (GO:0042527)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of gluconeogenesis (GO:0045722)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|syntaxin binding (GO:0019905)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				CCAGAGCGCCCAATGCCTGCA	0.423																																						ENST00000309660.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13						c.(661-663)Ggg>Tgg		protein tyrosine phosphatase, non-receptor type 2							98	102	101					18																	12817199		2203	4300	6503	SO:0001583	missense	5771				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding	g.chr18:12817199C>A	M25393	CCDS11863.1, CCDS11864.1, CCDS11865.1, CCDS59306.1	18p11.3-p11.2	2011-06-09			ENSG00000175354	ENSG00000175354		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9650	protein-coding gene	gene with protein product		176887		PTPT		2164224	Standard	NM_002828		Approved	TCELLPTP, TC-PTP, TCPTP	uc002krp.3	P17706	OTTHUMG00000131702	ENST00000309660.5:c.661G>T	18.37:g.12817199C>A	ENSP00000311857:p.Gly221Trp					PTPN2_ENST00000591497.1_Missense_Mutation_p.G192W|PTPN2_ENST00000591115.1_Missense_Mutation_p.G244W|PTPN2_ENST00000353319.4_Missense_Mutation_p.G221W|PTPN2_ENST00000327283.3_Missense_Mutation_p.G221W	p.G221W	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN			6	754	-		Lung NSC(161;8.94e-06)	221			Substrate binding (By similarity).|Tyrosine-protein phosphatase.		A8K955|A8MXU3|K7ENG3|Q96AU5|Q96HR2	Missense_Mutation	SNP	ENST00000309660.5	37	c.661G>T	CCDS11865.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772177	0.90108	.	.	ENSG00000175354	ENST00000327283;ENST00000353319;ENST00000341361;ENST00000309660	D;D;D	0.87729	-2.29;-2.29;-2.29	5.28	5.28	0.74379	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.53938	D	0.000041	D	0.97105	0.9054	H	0.99863	4.86	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	1.0;1.0;1.0;1.0;1.0	D	0.99461	1.0943	10	0.87932	D	0	.	18.8968	0.92426	0.0:1.0:0.0:0.0	.	221;221;198;221;221	P17706;P17706-2;Q59F91;Q96AU5;A8K3N4	PTN2_HUMAN;.;.;.;.	W	221;221;198;221	ENSP00000320298:G221W;ENSP00000320546:G221W;ENSP00000311857:G221W	ENSP00000311857:G221W	G	-	1	0	PTPN2	12807199	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.744000	0.85034	2.447000	0.82792	0.591000	0.81541	GGG		0.423	PTPN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254613.3	NM_002828, NM_080422, NM_080423		4	115	1	0	0.150653	0.150653	0.155848	4	115					A	12817199	C	A	12817199	3	1	83	1	0	0	0	0	1	0	0	0	12785	594	21	4	628	4	PTPN2	18	12817199	Missense_Mutation	SNP	C	TCGA-DJ-A1QG-01A-11D-A14W-08		12817199	65260049	19	1895											
ICAM3	3385	broad.mit.edu	37	chr19	10449575	10449575	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggaccctccagcagagagCacagggttctggggctccac	14	13	1	1			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr19:10449575C>T	ENST00000160262.5	-	2	334	c.126G>A	c.(124-126)gtG>gtA	p.V42V	ICAM3_ENST00000589261.1_5'UTR	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	42					extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			CAGCAGAGAGCACAGGGTTCT	0.552																																						ENST00000160262.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13						c.(124-126)gtG>gtA		intercellular adhesion molecule 3							63	65	65					19																	10449575		2203	4300	6503	SO:0001819	synonymous_variant	3385				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding	g.chr19:10449575C>T		CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942		ENST00000160262.5:c.126G>A	19.37:g.10449575C>T						ICAM3_ENST00000589261.1_5'UTR	p.V42V	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)		2	334	-			42					Q6PD68	Silent	SNP	ENST00000160262.5	37	c.126G>A	CCDS12235.1																																																																																				0.552	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451234.1			22	37	0	0	0	0.624587	0	22	37					T	10449575	C	T	10449575	2	4	83	1	0	0	0	0	0	0	0	1	7481	697	25	2		2	ICAM3	19	10449575	Silent	SNP	C	TCGA-DJ-A1QG-01A-11D-A14W-08		10449575	48679408	20	1896											
CHEK2	11200	broad.mit.edu	37	chr22	29091784	29091784	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaacaagaacttcaggcgcCaagtaggtgggggttccaca	13	9	1	1			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr22:29091784C>A	ENST00000405598.1	-	12	1364	c.1173G>T	c.(1171-1173)ttG>ttT	p.L391F	CHEK2_ENST00000328354.6_Missense_Mutation_p.L391F|CHEK2_ENST00000403642.1_Missense_Mutation_p.L300F|CHEK2_ENST00000402731.1_Missense_Mutation_p.L362F|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.L434F|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000348295.3_Missense_Mutation_p.L362F|CHEK2_ENST00000544772.1_Missense_Mutation_p.L170F|CHEK2_ENST00000382578.1_Missense_Mutation_p.L300F|CHEK2_ENST00000404276.1_Missense_Mutation_p.L391F|CHEK2_ENST00000382566.1_3'UTR			O96017	CHK2_HUMAN	checkpoint kinase 2	391	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CTTCAGGCGCCAAGTAGGTGG	0.423			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			0				central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(508-510)ttG>ttT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							56	57	57					22																	29091784		2203	4300	6503	SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091784C>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"CHK2 (checkpoint, S.pombe) homolog", "CHK2 checkpoint homolog (S. pombe)"	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1173G>T	22.37:g.29091784C>A	ENSP00000386087:p.Leu391Phe					CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.L391F|CHEK2_ENST00000382578.1_Missense_Mutation_p.L300F|CHEK2_ENST00000403642.1_Missense_Mutation_p.L300F|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.L391F|CHEK2_ENST00000328354.6_Missense_Mutation_p.L391F|CHEK2_ENST00000348295.3_Missense_Mutation_p.L362F|CHEK2_ENST00000402731.1_Missense_Mutation_p.L362F|CHEK2_ENST00000382580.2_Missense_Mutation_p.L434F	p.L170F	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1946	-			391			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.510G>T	CCDS13843.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.134212|4.134212	0.77662|0.77662	.|.	.|.	ENSG00000183765|ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731|ENST00000434810	T;T;T;T;T;T;T;T;T|.	0.53206|.	0.94;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.94|.	5.73|5.73	4.72|4.72	0.59763|0.59763	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.067121|.	0.64402|.	D|.	0.000013|.	T|T	0.52613|0.52613	0.1745|0.1745	L|L	0.38692|0.38692	1.165|1.165	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;0.999;1.0;1.0;1.0;0.999|.	D;D;D;D;D;D|.	0.80764|.	0.989;0.985;0.994;0.992;0.981;0.955|.	T|T	0.44667|0.44667	-0.9313|-0.9313	10|5	0.72032|.	D|.	0.01|.	-23.1802|-23.1802	8.7579|8.7579	0.34656|0.34656	0.1617:0.7588:0.0:0.0795|0.1617:0.7588:0.0:0.0795	.|.	300;170;391;362;391;434|.	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9|.	.;.;.;.;CHK2_HUMAN;.|.	F|L	362;300;170;391;391;391;434;300;362|135	ENSP00000329012:L362F;ENSP00000372021:L300F;ENSP00000442458:L170F;ENSP00000329178:L391F;ENSP00000385747:L391F;ENSP00000386087:L391F;ENSP00000372023:L434F;ENSP00000384919:L300F;ENSP00000384835:L362F|.	ENSP00000329178:L391F|.	L|W	-|-	3|2	2|0	CHEK2|CHEK2	27421784|27421784	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.918000|0.918000	0.54935|0.54935	2.009000|2.009000	0.40903|0.40903	2.710000|2.710000	0.92621|0.92621	0.650000|0.650000	0.86243|0.86243	TTG|TGG		0.423	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		26	14	1	0	4.87955e-14	0.693898	5.85547e-14	26	14					A	29091784	C	A	29091784	3	1	83	1	0	0	0	0	1	0	0	0	3335	593	21	4	478	4	CHEK2	22	29091784	Missense_Mutation	SNP	C	TCGA-DJ-A1QG-01A-11D-A14W-08		29091784	22212782	21	1897											
S1PR1	1901	broad.mit.edu	37	chr1	101705451	101705451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtgttagctgtgctcaactCcggcaccaaccccatcattt	8	14	2	0			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr1:101705451C>T	ENST00000305352.6	+	2	1286	c.911C>T	c.(910-912)tCc>tTc	p.S304F		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	304					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GTGCTCAACTCCGGCACCAAC	0.567																																						ENST00000305352.6																			0				NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						c.(910-912)tCc>tTc		sphingosine-1-phosphate receptor 1							215	216	215					1																	101705451		2203	4300	6503	SO:0001583	missense	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101705451C>T	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate", "CD molecules"	3165	protein-coding gene	gene with protein product		601974	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.911C>T	1.37:g.101705451C>T	ENSP00000305416:p.Ser304Phe						p.S304F	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN			2	1286	+			304					D3DT66|Q9BYY4|Q9NYN8	Missense_Mutation	SNP	ENST00000305352.6	37	c.911C>T	CCDS777.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059843	0.76074	.	.	ENSG00000170989	ENST00000305352;ENST00000424264	T	0.79749	-1.3	4.87	4.87	0.63330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.93318	0.7870	H	0.97829	4.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95945	0.8950	10	0.87932	D	0	.	18.0062	0.89210	0.0:1.0:0.0:0.0	.	304	P21453	S1PR1_HUMAN	F	304	ENSP00000305416:S304F	ENSP00000305416:S304F	S	+	2	0	S1PR1	101478039	1.000000	0.71417	0.928000	0.36995	0.973000	0.67179	7.818000	0.86416	2.226000	0.72624	0.305000	0.20034	TCC		0.567	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400		126	205	0	0	0	0.139131	0	126	205					T	101705451	C	T	101705451	3	4	84	1	0	0	0	0	1	0	0	0	13793	855	30	2	913	2	S1PR1	1	101705451	Missense_Mutation	SNP	C	TCGA-DJ-A1QH-01A-21D-A14W-08		101705451	147545170	1	1898											
C2orf86	51057	broad.mit.edu	37	chr2	63631601	63631601	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgcagcagctgatggcCtttgactttagtggtattct	10	9	1	2			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr2:63631601C>T	ENST00000272321.7	-	10	1544	c.1017G>A	c.(1015-1017)aaG>aaA	p.K339K	WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409562.3_Silent_p.K339K|WDPCP_ENST00000409120.1_Silent_p.K147K|WDPCP_ENST00000409199.1_Silent_p.K147K|WDPCP_ENST00000398544.3_Silent_p.K180K	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	339					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						AGCTGATGGCCTTTGACTTTA	0.433																																						ENST00000409120.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						c.(439-441)aaG>aaA		WD repeat containing planar cell polarity effector							126	122	123					2																	63631601		1988	4173	6161	SO:0001819	synonymous_variant	51057				cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		g.chr2:63631601C>T		CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"chromosome 2 open reading frame 86"	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.1017G>A	2.37:g.63631601C>T						WDPCP_ENST00000409199.1_Silent_p.K147K|WDPCP_ENST00000272321.7_Silent_p.K339K|WDPCP_ENST00000398544.3_Silent_p.K180K|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409562.3_Silent_p.K339K	p.K147K			O95876	FRITZ_HUMAN			4	3991	-			339					Q53RW4|Q7Z2Z3	Silent	SNP	ENST00000272321.7	37	c.441G>A	CCDS42688.1																																																																																				0.433	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910		3	95	0	0	0	0.115264	0	3	95					T	63631601	C	T	63631601	2	4	84	1	0	0	0	0	0	0	0	1	2201	680	24	2		2	C2orf86	2	63631601	Silent	SNP	C	TCGA-DJ-A1QH-01A-21D-A14W-08		63631601	179567772	2	1899											
CD302	9936	broad.mit.edu	37	chr2	160637475	160637477	+	In_Frame_Del	DEL	TTC	TTC	-													gtatccagtataaaagcattTtcttcttcattatgtatgct							TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr2:160637475_160637477delTTC	ENST00000259053.4	-	3	254_256	c.211_213delGAA	c.(211-213)gaadel	p.E71del	CD302_ENST00000480212.1_5'UTR|CD302_ENST00000429078.2_In_Frame_Del_p.E71del|LY75-CD302_ENST00000505052.1_In_Frame_Del_p.E1656del|LY75_ENST00000554112.1_In_Frame_Del_p.E1712del|LY75_ENST00000553424.1_In_Frame_Del_p.E1656del|LY75-CD302_ENST00000504764.1_In_Frame_Del_p.E1712del	NM_001198764.1|NM_014880.4	NP_001185693.1|NP_055695.2	Q8IX05	CD302_HUMAN	CD302 molecule	71	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				phagocytosis (GO:0006909)	cell cortex (GO:0005938)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)	p.E71Q(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						TAAAAGCATTTTCTTCTTCATTA	0.335																																						ENST00000504764.1																			1	Substitution - Missense(1)	p.E71Q(1)	lung(1)								c.(5134-5136)del																																						SO:0001651	inframe_deletion	0				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	g.chr2:160637475_160637477delTTC	AY314007	CCDS33308.1, CCDS56139.1, CCDS74595.1	2q24.2	2011-08-30	2006-03-28		ENSG00000241399	ENSG00000241399		"CD molecules", "C-type lectin domain containing"	30843	protein-coding gene	gene with protein product	"C-type lectin domain family 13, member A"	612246	"CD302 antigen"			7584026, 7584028	Standard	NM_014880		Approved	DCL-1, KIAA0022, BIMLEC, CLEC13A		Q8IX05	OTTHUMG00000154080	ENST00000259053.4:c.211_213delGAA	2.37:g.160637481_160637483delTTC	ENSP00000259053:p.Glu71del					CD302_ENST00000259053.4_In_Frame_Del_p.E71del|CD302_ENST00000429078.2_In_Frame_Del_p.E71del|LY75_ENST00000554112.1_In_Frame_Del_p.E1712del|LY75_ENST00000553424.1_In_Frame_Del_p.E1656del|LY75-CD302_ENST00000505052.1_In_Frame_Del_p.E1656del|CD302_ENST00000480212.1_5'UTR	p.E1712del	NM_001198759.1	NP_001185688.1	O60449	LY75_HUMAN			36	5161_5163	-			1580					A8K5G4|B4E2T9|Q15009	In_Frame_Del	DEL	ENST00000259053.4	37	c.5134_5136delGAA	CCDS33308.1																																																																																				0.335	CD302-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333760.1	NM_014880		28	40						28	40	---	---	---	---	-	160637477	TTC	-	160637475	7	5	84	1	0	1	0	1	0	0	0	0	3003	1838	64	0	501	0	CD302	2	160637475	In_Frame_Del	DEL	TTC	TCGA-DJ-A1QH-01A-21D-A14W-08	97005874	160637475	82561898	3	1900											
HLA-DOA	3111	broad.mit.edu	37	chr6	32974902	32974902	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatgatgatgaggacggtgCccacgaggaagcccaccagg	14	12	0	3			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr6:32974902C>A	ENST00000229829.5	-	4	779	c.704G>T	c.(703-705)gGc>gTc	p.G235V	HLA-DOA_ENST00000450833.2_Intron|HLA-DOA_ENST00000495532.1_5'Flank	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	235					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						GAGGACGGTGCCCACGAGGAA	0.627																																						ENST00000229829.5																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(703-705)gGc>gTc		major histocompatibility complex, class II, DO alpha							60	64	63					6																	32974902		2203	4300	6503	SO:0001583	missense	3111				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32974902C>A	M31525	CCDS4763.1	6p21.3	2013-01-11		2001-10-05	ENSG00000204252	ENSG00000204252		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4936	protein-coding gene	gene with protein product		142930		HLA-DZA, HLA-DNA		2370084	Standard	XM_005272804		Approved	HLA-D0-alpha	uc003ocr.3	P06340	OTTHUMG00000031211	ENST00000229829.5:c.704G>T	6.37:g.32974902C>A	ENSP00000229829:p.Gly235Val					HLA-DOA_ENST00000450833.2_Intron	p.G235V	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN			4	779	-			235					Q58HU0|Q58HU1|Q5STC7|Q9TQC6|Q9TQC7|Q9TQC8|Q9TQC9|Q9TQD0|Q9TQD1|Q9TQD2|Q9TQD3	Missense_Mutation	SNP	ENST00000229829.5	37	c.704G>T	CCDS4763.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298878	0.81025	.	.	ENSG00000204252	ENST00000229829	T	0.09255	3.0	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.34483	0.0899	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.39461	-0.9613	10	0.87932	D	0	.	15.7771	0.78232	0.0:1.0:0.0:0.0	.	235	P06340	DOA_HUMAN	V	235	ENSP00000229829:G235V	ENSP00000229829:G235V	G	-	2	0	HLA-DOA	33082880	1.000000	0.71417	0.999000	0.59377	0.925000	0.55904	5.282000	0.65615	2.654000	0.90174	0.650000	0.86243	GGC		0.627	HLA-DOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076426.2	NM_002119		4	77	1	0	0.00909568	0.009096	0.00992256	4	77					A	32974902	C	A	32974902	3	1	84	1	0	0	0	0	1	0	0	0	7200	739	26	4	56	4	HLA-DOA	6	32974902	Missense_Mutation	SNP	C	TCGA-DJ-A1QH-01A-21D-A14W-08		32974902	138140165	4	1901											
VEGFA	7422	broad.mit.edu	37	chr6	43742103	43742103	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggctgcacccatggcagAaggaggagggcagaatcatc	14	11	1	2			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr6:43742103A>G	ENST00000523873.1	+	2	130	c.92A>G	c.(91-93)gAa>gGa	p.E31G	VEGFA_ENST00000457104.2_Missense_Mutation_p.E31G|VEGFA_ENST00000324450.6_Missense_Mutation_p.E211G|VEGFA_ENST00000518824.1_Missense_Mutation_p.E31G|VEGFA_ENST00000413642.3_Missense_Mutation_p.E211G|VEGFA_ENST00000372067.3_Missense_Mutation_p.E211G|VEGFA_ENST00000518689.1_Missense_Mutation_p.E31G|VEGFA_ENST00000482630.2_Missense_Mutation_p.E211G|VEGFA_ENST00000372077.4_Missense_Mutation_p.E31G|VEGFA_ENST00000372055.4_Missense_Mutation_p.E211G|VEGFA_ENST00000372064.4_Missense_Mutation_p.E211G|VEGFA_ENST00000523950.1_Missense_Mutation_p.E31G|VEGFA_ENST00000523125.1_Missense_Mutation_p.E31G|VEGFA_ENST00000520948.1_Missense_Mutation_p.E31G|VEGFA_ENST00000425836.2_Missense_Mutation_p.E211G|VEGFA_ENST00000417285.2_Missense_Mutation_p.E211G|VEGFA_ENST00000230480.6_Missense_Mutation_p.E3G			P15692	VEGFA_HUMAN	vascular endothelial growth factor A	31					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|basophil chemotaxis (GO:0002575)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|camera-type eye morphogenesis (GO:0048593)|cardiac muscle fiber development (GO:0048739)|cardiac vascular smooth muscle cell development (GO:0060948)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to hypoxia (GO:0071456)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|dopaminergic neuron differentiation (GO:0071542)|endothelial cell chemotaxis (GO:0035767)|epithelial cell differentiation (GO:0030855)|eye photoreceptor cell development (GO:0042462)|growth (GO:0040007)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|induction of positive chemotaxis (GO:0050930)|kidney development (GO:0001822)|lactation (GO:0007595)|lung development (GO:0030324)|lymph vessel morphogenesis (GO:0036303)|macrophage differentiation (GO:0030225)|mammary gland alveolus development (GO:0060749)|mesoderm development (GO:0007498)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|outflow tract morphogenesis (GO:0003151)|ovarian follicle development (GO:0001541)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cellular component movement (GO:0051272)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine autophosphorylation (GO:1900086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein localization to early endosome (GO:1902966)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor internalization (GO:0002092)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|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 vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of vascular permeability (GO:0043117)|post-embryonic camera-type eye development (GO:0031077)|primitive erythrocyte differentiation (GO:0060319)|regulation of cell shape (GO:0008360)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)|surfactant homeostasis (GO:0043129)|tube formation (GO:0035148)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|VEGF-activated neuropilin signaling pathway (GO:0038190)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|neuropilin binding (GO:0038191)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor agonist activity (GO:0048018)|vascular endothelial growth factor receptor 1 binding (GO:0043183)|vascular endothelial growth factor receptor 2 binding (GO:0043184)|vascular endothelial growth factor receptor binding (GO:0005172)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Aflibercept(DB08885)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Dalteparin(DB06779)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Vandetanib(DB05294)	CCCATGGCAGAAGGAGGAGGG	0.617											OREG0017458	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372067.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						c.(631-633)gAa>gGa		vascular endothelial growth factor A	Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)						87	74	78					6																	43742103		2203	4300	6503	SO:0001583	missense	7422				basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding	g.chr6:43742103A>G	AB021221	CCDS34457.1, CCDS4907.2, CCDS34458.1, CCDS47432.1, CCDS47433.1, CCDS47434.1, CCDS47435.1, CCDS55007.1, CCDS55008.1, CCDS55009.1, CCDS55010.1, CCDS55011.1, CCDS55012.1, CCDS55013.1, CCDS55014.1, CCDS55015.1, CCDS69125.1	6p12	2008-02-05	2006-10-31	2006-10-31	ENSG00000112715	ENSG00000112715			12680	protein-coding gene	gene with protein product		192240	"vascular endothelial growth factor"	VEGF		8786112	Standard	NM_001025366		Approved	VEGF-A, VPF	uc003owh.3	P15692	OTTHUMG00000014745	ENST00000523873.1:c.92A>G	6.37:g.43742103A>G	ENSP00000430479:p.Glu31Gly		OREG0017458	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	918	VEGFA_ENST00000523873.1_Missense_Mutation_p.E31G|VEGFA_ENST00000457104.2_Missense_Mutation_p.E31G|VEGFA_ENST00000230480.6_Missense_Mutation_p.E3G|VEGFA_ENST00000372077.4_Missense_Mutation_p.E31G|VEGFA_ENST00000523125.1_Missense_Mutation_p.E31G|VEGFA_ENST00000372055.4_Missense_Mutation_p.E211G|VEGFA_ENST00000520948.1_Missense_Mutation_p.E31G|VEGFA_ENST00000425836.2_Missense_Mutation_p.E211G|VEGFA_ENST00000413642.3_Missense_Mutation_p.E211G|VEGFA_ENST00000518689.1_Missense_Mutation_p.E31G|VEGFA_ENST00000523950.1_Missense_Mutation_p.E31G|VEGFA_ENST00000324450.6_Missense_Mutation_p.E211G|VEGFA_ENST00000372064.4_Missense_Mutation_p.E211G|VEGFA_ENST00000518824.1_Missense_Mutation_p.E31G|VEGFA_ENST00000482630.2_Missense_Mutation_p.E211G|VEGFA_ENST00000417285.2_Missense_Mutation_p.E211G	p.E211G	NM_001025366.2|NM_001025367.2|NM_001025368.2|NM_001025369.2|NM_001033756.2|NM_001171623.1|NM_001171624.1|NM_001171625.1|NM_001171626.1|NM_001171627.1|NM_001171629.1|NM_003376.5	NP_001020537.2|NP_001020538.2|NP_001020539.2|NP_001020540.2|NP_001028928.1|NP_001165094.1|NP_001165095.1|NP_001165096.1|NP_001165097.1|NP_001165098.1|NP_001165100.1|NP_003367.4	P15692	VEGFA_HUMAN	all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		2	1126	+	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		31					B5BU86|H0Y2S8|H0Y407|H0Y414|H0Y462|H0Y8N2|H3BLW7|O60720|O75875|Q074Z4|Q16889|Q5UB46|Q6P0P5|Q96KJ0|Q96L82|Q96NW5|Q9H1W8|Q9H1W9|Q9UH58|Q9UL23	Missense_Mutation	SNP	ENST00000523873.1	37	c.632A>G	CCDS55010.1	.	.	.	.	.	.	.	.	.	.	A	3.755	-0.050774	0.07407	.	.	ENSG00000112715	ENST00000372067;ENST00000324450;ENST00000417285;ENST00000413642;ENST00000372055;ENST00000482630;ENST00000425836;ENST00000372064;ENST00000372077;ENST00000520948;ENST00000523873;ENST00000523950;ENST00000457104;ENST00000518689;ENST00000523125;ENST00000518824;ENST00000230480;ENST00000520265	.	.	.	4.6	2.19	0.27852	.	.	.	.	.	T	0.06600	0.0169	N	0.11818	0.18	0.22066	N	0.999382	B;B;B;B;B;B;B;B;B	0.24963	0.0;0.014;0.001;0.115;0.0;0.0;0.002;0.001;0.0	B;B;B;B;B;B;B;B;B	0.23716	0.0;0.018;0.003;0.048;0.002;0.0;0.006;0.002;0.001	T	0.37753	-0.9692	8	0.30078	T	0.28	-0.9378	6.1111	0.20102	0.7947:0.0:0.2053:0.0	.	31;211;31;211;31;211;211;31;31	P15692-10;P15692-12;P15692-8;P15692-14;P15692-3;P15692-13;P15692-11;P15692;Q6WZM0	.;.;.;.;.;.;.;VEGFA_HUMAN;.	G	211;211;211;211;211;211;211;211;31;31;31;31;31;31;31;31;3;5	.	ENSP00000230480:E3G	E	+	2	0	VEGFA	43850081	0.989000	0.36119	0.981000	0.43875	0.012000	0.07955	0.096000	0.15147	0.288000	0.22398	0.459000	0.35465	GAA		0.617	VEGFA-021	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374460.1	NM_001025366		5	36	0	0	0	0.021553	0	5	36					G	43742103	A	G	43742103	3	3	84	1	0	0	0	0	1	0	0	0	17147	246	9	3	638	3	VEGFA	6	43742103	Missense_Mutation	SNP	A	TCGA-DJ-A1QH-01A-21D-A14W-08	10767201	43742103	127372964	5	1902											
SIM1	6492	broad.mit.edu	37	chr6	100838751	100838751	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtgttttttcccagccccaTtaatggaagccagttggtct	9	10	1	0			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr6:100838751T>A	ENST00000369208.3	-	12	2569	c.1787A>T	c.(1786-1788)aAt>aTt	p.N596I	SIM1_ENST00000262901.4_Missense_Mutation_p.N596I			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	596	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CCCAGCCCCATTAATGGAAGC	0.458																																						ENST00000369208.3																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(1786-1788)aAt>aTt		single-minded family bHLH transcription factor 1							72	72	72					6																	100838751		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100838751T>A	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"Basic helix-loop-helix proteins"	10882	protein-coding gene	gene with protein product		603128	"single-minded (Drosophila) homolog 1", "single-minded homolog 1 (Drosophila)"			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1787A>T	6.37:g.100838751T>A	ENSP00000358210:p.Asn596Ile					SIM1_ENST00000262901.4_Missense_Mutation_p.N596I	p.N596I			P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	12	2569	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	596			Single-minded C-terminal.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.1787A>T	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	T	13.51	2.257426	0.39896	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.32515	1.45;1.45	5.82	4.63	0.57726	Single-minded, C-terminal (2);	0.179164	0.64402	N	0.000017	T	0.10423	0.0255	N	0.19112	0.55	0.49582	D	0.999804	B	0.09022	0.002	B	0.10450	0.005	T	0.04579	-1.0941	10	0.87932	D	0	.	12.1552	0.54072	0.1283:0.0:0.0:0.8717	.	596	P81133	SIM1_HUMAN	I	596	ENSP00000358210:N596I;ENSP00000262901:N596I	ENSP00000262901:N596I	N	-	2	0	SIM1	100945472	1.000000	0.71417	0.999000	0.59377	0.942000	0.58702	5.902000	0.69869	0.979000	0.38497	0.455000	0.32223	AAT		0.458	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		26	32	0	0	0	0.083992	0	26	32					A	100838751	T	A	100838751	3	1	84	1	0	0	0	0	1	0	0	0	14323	1493	52	5	517	5	SIM1	6	100838751	Missense_Mutation	SNP	T	TCGA-DJ-A1QH-01A-21D-A14W-08	57096648	100838751	70276316	6	1903											
FLNC	2318	broad.mit.edu	37	chr7	128478773	128478773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgctgcacatacagacctGccatggaggggccacatacc	10	15	0	1			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr7:128478773G>A	ENST00000325888.8	+	8	1588	c.1327G>A	c.(1327-1329)Gcc>Acc	p.A443T	FLNC_ENST00000346177.6_Missense_Mutation_p.A443T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	443					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ATACAGACCTGCCATGGAGGG	0.632																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(1327-1329)Gcc>Acc		filamin C, gamma							87	97	94					7																	128478773		2118	4215	6333	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128478773G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.1327G>A	7.37:g.128478773G>A	ENSP00000327145:p.Ala443Thr					FLNC_ENST00000346177.6_Missense_Mutation_p.A443T	p.A443T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			8	1588	+			443					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.1327G>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	8.108	0.778127	0.16120	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.84370	-1.84;-1.84	4.9	4.02	0.46733	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.496053	0.20614	N	0.088919	T	0.48589	0.1508	N	0.00138	-2.015	0.21740	N	0.999569	B;B	0.15930	0.015;0.0	B;B	0.17979	0.02;0.001	T	0.53012	-0.8498	10	0.02654	T	1	.	8.4819	0.33047	0.1777:0.0:0.8223:0.0	.	443;443	Q14315-2;Q14315	.;FLNC_HUMAN	T	443	ENSP00000327145:A443T;ENSP00000344002:A443T	ENSP00000327145:A443T	A	+	1	0	FLNC	128266009	0.993000	0.37304	0.977000	0.42913	0.966000	0.64601	2.365000	0.44196	1.272000	0.44329	0.561000	0.74099	GCC		0.632	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			38	90	0	0	0	0.074837	0	38	90					A	128478773	G	A	128478773	3	1	84	1	0	0	0	0	1	0	0	0	5935	1319	46	2	1357	2	FLNC	7	128478773	Missense_Mutation	SNP	G	TCGA-DJ-A1QH-01A-21D-A14W-08		128478773	30659890	7	1904											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		30	36	0	0	0	0.050027	0	30	36					T	140453136	A	T	140453136	3	4	84	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A1QH-01A-21D-A14W-08	11974363	140453136	18685527	8	1905											
KIAA1529	100499483	broad.mit.edu	37	chr9	100085164	100085164	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atccgcctgctgtatgagaaGacatggcaggagtgcctgat	13	9	0	3			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr9:100085164G>C	ENST00000357054.1	+	26	2693	c.1758G>C	c.(1756-1758)aaG>aaC	p.K586N	CCDC180_ENST00000375202.2_Missense_Mutation_p.K447N|CCDC180_ENST00000460482.2_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_Missense_Mutation_p.K546N|CCDC180_ENST00000529487.1_Missense_Mutation_p.K447N|CCDC180_ENST00000411667.2_Missense_Mutation_p.K444N			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	586						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TGTATGAGAAGACATGGCAGG	0.532																																						ENST00000375202.2																			0											c.(1339-1341)aaG>aaC		coiled-coil domain containing 180							109	84	92					9																	100085164		2203	4300	6503	SO:0001583	missense	100499483							g.chr9:100085164G>C	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.1758G>C	9.37:g.100085164G>C	ENSP00000349562:p.Lys586Asn					CCDC180_ENST00000529487.1_Missense_Mutation_p.K447N|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_Missense_Mutation_p.K546N|CCDC180_ENST00000411667.2_Missense_Mutation_p.K444N|CCDC180_ENST00000357054.1_Missense_Mutation_p.K586N|CCDC180_ENST00000460482.2_3'UTR	p.K447N							26	2693	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.1341G>C		.	.	.	.	.	.	.	.	.	.	G	3.916	-0.019114	0.07634	.	.	ENSG00000197816	ENST00000357054;ENST00000395220;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82	5.08	-0.991	0.10235	.	1.100060	0.06849	N	0.796973	T	0.22003	0.0530	L	0.57536	1.79	0.09310	N	1	B;B;B;B	0.31931	0.347;0.009;0.043;0.009	B;B;B;B	0.30105	0.111;0.016;0.035;0.016	T	0.29822	-0.9999	10	0.39692	T	0.17	-8.6901	4.2608	0.10740	0.3157:0.3187:0.3656:0.0	.	444;586;447;586	F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;CI174_HUMAN	N	586;546;447;444;470;447	ENSP00000349562:K586N;ENSP00000378646:K546N;ENSP00000364348:K447N;ENSP00000414000:K444N;ENSP00000434727:K447N	ENSP00000349562:K586N	K	+	3	2	C9orf174	99124985	0.097000	0.21791	0.016000	0.15963	0.145000	0.21501	-0.082000	0.11304	-0.016000	0.14127	-0.502000	0.04539	AAG		0.532	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		12	18	0	0	0	0.132662	0	12	18					C	100085164	G	C	100085164	3	2	84	1	0	0	0	0	1	0	0	0	8240	933	33	4	1816	4	KIAA1529	9	100085164	Missense_Mutation	SNP	G	TCGA-DJ-A1QH-01A-21D-A14W-08		100085164	41128267	9	1906											
TRIM32	22954	broad.mit.edu	37	chr9	119460294	119460294	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcattgatacagctgggctCagcgaggctgtggggctgct	15	9	2	1			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr9:119460294C>T	ENST00000450136.1	+	2	434	c.273C>T	c.(271-273)ctC>ctT	p.L91L	TRIM32_ENST00000373983.2_Silent_p.L91L|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000373996.3_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	91					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863)	ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						CAGCTGGGCTCAGCGAGGCTG	0.582																																					Esophageal Squamous(92;212 1916 19711 26951)	ENST00000450136.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(271-273)ctC>ctT		tripartite motif containing 32							72	67	69					9																	119460294		2203	4300	6503	SO:0001819	synonymous_variant	22954				fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:119460294C>T	U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16380	protein-coding gene	gene with protein product		602290	"limb girdle muscular dystrophy 2H (autosomal recessive)", "tripartite motif-containing 32"	LGMD2H		11331580, 7778269, 16606853	Standard	NM_001099679		Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.273C>T	9.37:g.119460294C>T						ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron|TRIM32_ENST00000373983.2_Silent_p.L91L|ASTN2_ENST00000313400.4_Intron	p.L91L	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN			2	434	+			91					Q9NQP8	Silent	SNP	ENST00000450136.1	37	c.273C>T	CCDS6817.1																																																																																				0.582	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055466.2	NM_012210		31	38	0	0	0	0.059317	0	31	38					T	119460294	C	T	119460294	2	4	84	1	0	0	0	0	0	0	0	1	16503	813	29	2		2	TRIM32	9	119460294	Silent	SNP	C	TCGA-DJ-A1QH-01A-21D-A14W-08	19375130	119460294	21753137	10	1907											
OPN4	94233	broad.mit.edu	37	chr10	88419674	88419674	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctccagaccttcggggccTgcaagggcaatggcgagtcc	13	14	1	1			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr10:88419674T>C	ENST00000241891.5	+	6	990	c.823T>C	c.(823-825)Tgc>Cgc	p.C275R	OPN4_ENST00000372071.2_Missense_Mutation_p.C286R	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	275					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CTTCGGGGCCTGCAAGGGCAA	0.637																																						ENST00000372071.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						c.(856-858)Tgc>Cgc		opsin 4							100	75	84					10																	88419674		2203	4300	6503	SO:0001583	missense	94233				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity	g.chr10:88419674T>C	AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"GPCR / Class A : Opsin receptors"	14449	protein-coding gene	gene with protein product	"melanopsin"	606665	"opsin 4 (melanopsin)"			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.823T>C	10.37:g.88419674T>C	ENSP00000241891:p.Cys275Arg					OPN4_ENST00000241891.5_Missense_Mutation_p.C275R	p.C286R	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN			7	1083	+			275					B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Missense_Mutation	SNP	ENST00000241891.5	37	c.856T>C	CCDS7376.1	.	.	.	.	.	.	.	.	.	.	T	6.753	0.507722	0.12883	.	.	ENSG00000122375	ENST00000372071;ENST00000241891;ENST00000443292	T;T;T	0.68479	-0.29;0.08;-0.33	5.16	2.68	0.31781	GPCR, rhodopsin-like superfamily (1);	1.467820	0.03667	N	0.243430	T	0.39809	0.1092	N	0.02192	-0.645	0.19300	N	0.999976	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.18263	0.021;0.008;0.006	T	0.42344	-0.9457	10	0.12430	T	0.62	.	5.9201	0.19078	0.2424:0.0:0.1234:0.6342	.	286;275;286	C9JWU6;Q9UHM6;Q9UHM6-2	.;OPN4_HUMAN;.	R	286;275;286	ENSP00000361141:C286R;ENSP00000241891:C275R;ENSP00000393132:C286R	ENSP00000241891:C275R	C	+	1	0	OPN4	88409654	0.000000	0.05858	0.954000	0.39281	0.612000	0.37316	-0.116000	0.10724	1.955000	0.56771	0.529000	0.55759	TGC		0.637	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049158.2	NM_033282		3	51	0	0	0	0.009096	0	3	51					C	88419674	T	C	88419674	3	2	84	1	0	0	0	0	1	0	0	0	10882	1580	55	3	882	3	OPN4	10	88419674	Missense_Mutation	SNP	T	TCGA-DJ-A1QH-01A-21D-A14W-08		88419674	47115073	11	1908											
GBF1	8729	broad.mit.edu	37	chr10	104119094	104119094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgaagtgttagaggagtGcacgtcccctgccgaccact	11	14	0	2			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr10:104119094G>A	ENST00000369983.3	+	11	1339	c.1079G>A	c.(1078-1080)tGc>tAc	p.C360Y	GBF1_ENST00000476019.1_3'UTR	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	360					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TTAGAGGAGTGCACGTCCCCT	0.552																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(1078-1080)tGc>tAc		golgi brefeldin A resistant guanine nucleotide exchange factor 1							178	139	152					10																	104119094		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104119094G>A	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.1079G>A	10.37:g.104119094G>A	ENSP00000359000:p.Cys360Tyr					GBF1_ENST00000476019.1_3'UTR	p.C360Y	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	11	1339	+		Colorectal(252;0.0236)	360					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.1079G>A	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.355979	0.41700	.	.	ENSG00000107862	ENST00000369983	T	0.09538	2.97	5.63	4.73	0.59995	.	0.184359	0.64402	D	0.000019	T	0.10078	0.0247	L	0.51422	1.61	0.42822	D	0.993993	P;P;P	0.42973	0.796;0.641;0.584	B;B;B	0.34180	0.177;0.091;0.091	T	0.06092	-1.0846	10	0.59425	D	0.04	-3.9609	10.6734	0.45772	0.1456:0.0:0.8544:0.0	.	360;360;360	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	Y	360	ENSP00000359000:C360Y	ENSP00000359000:C360Y	C	+	2	0	GBF1	104109084	1.000000	0.71417	0.694000	0.30210	0.791000	0.44710	6.104000	0.71498	1.378000	0.46305	0.655000	0.94253	TGC		0.552	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			19	37	0	0	0	0.069288	0	19	37					A	104119094	G	A	104119094	3	1	84	1	0	0	0	0	1	0	0	0	6271	1319	46	2	1117	2	GBF1	10	104119094	Missense_Mutation	SNP	G	TCGA-DJ-A1QH-01A-21D-A14W-08	15699420	104119094	31415653	12	1909											
OR5B3	441608	broad.mit.edu	37	chr11	58170795	58170795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgataatatagatgaaggGgaacgttataaagaggggaa	14	1	0	4			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr11:58170795G>A	ENST00000309403.2	-	1	87	c.88C>T	c.(88-90)Ccc>Tcc	p.P30S		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	30			P -> L (in dbSNP:rs17152661).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TAGATGAAGGGGAACGTTATA	0.398																																						ENST00000309403.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34						c.(88-90)Ccc>Tcc		olfactory receptor, family 5, subfamily B, member 3							123	120	121					11																	58170795		2201	4295	6496	SO:0001583	missense	441608				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58170795G>A	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"GPCR / Class A : Olfactory receptors"	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.88C>T	11.37:g.58170795G>A	ENSP00000308270:p.Pro30Ser						p.P30S	NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN			1	87	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	30		P -> L (in dbSNP:rs17152661).			Q6IEV6	Missense_Mutation	SNP	ENST00000309403.2	37	c.88C>T	CCDS31549.1	.	.	.	.	.	.	.	.	.	.	g	0.922	-0.715523	0.03206	.	.	ENSG00000172769	ENST00000309403	T	0.00575	6.46	4.19	-0.703	0.11261	.	0.966290	0.08466	N	0.941653	T	0.00241	0.0007	N	0.00385	-1.57	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40850	-0.9541	10	0.54805	T	0.06	-12.056	6.2218	0.20685	0.1951:0.0:0.4523:0.3526	.	30	Q8NH48	OR5B3_HUMAN	S	30	ENSP00000308270:P30S	ENSP00000308270:P30S	P	-	1	0	OR5B3	57927371	0.000000	0.05858	0.017000	0.16124	0.001000	0.01503	-0.190000	0.09615	-0.196000	0.10366	-1.160000	0.01791	CCC		0.398	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469		5	126	0	0	0	0.02938	0	5	126					A	58170795	G	A	58170795	3	1	84	1	0	0	0	0	1	0	0	0	11152	1232	43	2	858	2	OR5B3	11	58170795	Missense_Mutation	SNP	G	TCGA-DJ-A1QH-01A-21D-A14W-08		58170795	76835721	13	1910											
TYR	7299	broad.mit.edu	37	chr11	88911586	88911586	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatgtcatccccatagggacCtatggccaaatgaaaaatgg	9	9	1	1			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr11:88911586C>A	ENST00000263321.5	+	1	967	c.465C>A	c.(463-465)acC>acA	p.T155T	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	155			T -> S (in OCA1A). {ECO:0000269|PubMed:15146472}.		cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	CCATAGGGACCTATGGCCAAA	0.413																																						ENST00000263321.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(463-465)acC>acA		tyrosinase	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						157	149	151					11																	88911586		2201	4299	6500	SO:0001819	synonymous_variant	7299				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88911586C>A	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"oculocutaneous albinism IA"	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.465C>A	11.37:g.88911586C>A						TYR_ENST00000526139.1_3'UTR	p.T155T	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN			1	967	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	155		T -> S (in OCA1A).			Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Silent	SNP	ENST00000263321.5	37	c.465C>A	CCDS8284.1																																																																																				0.413	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		49	74	1	0	8.00217e-19	0.139131	9.29284e-19	49	74					A	88911586	C	A	88911586	2	1	84	1	0	0	0	0	0	0	0	1	16810	668	24	4		4	TYR	11	88911586	Silent	SNP	C	TCGA-DJ-A1QH-01A-21D-A14W-08	30740791	88911586	46094930	14	1911											
ATN1	1822	broad.mit.edu	37	chr12	7045484	7045484	+	Frame_Shift_Del	DEL	C	C	-													gcccagagaagggcccaactCtggctccttcaccccactct							TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr12:7045484delC	ENST00000356654.4	+	5	1291	c.1054delC	c.(1054-1056)ctgfs	p.L352fs	ATN1_ENST00000396684.2_Frame_Shift_Del_p.L352fs	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	352					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)	p.L352V(1)		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						GGGCCCAACTCTGGCTCCTTC	0.612																																						ENST00000356654.4																			1	Substitution - Missense(1)	p.L352V(1)	lung(1)	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.(1054-1056)tgfs		atrophin 1							129	133	132					12																	7045484		2203	4300	6503	SO:0001589	frameshift_variant	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7045484delC	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.1054delC	12.37:g.7045484delC	ENSP00000349076:p.Leu352fs					ATN1_ENST00000396684.2_Frame_Shift_Del_p.L352fs	p.L352fs	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN			5	1291	+			352					Q99495|Q99621|Q9UEK7	Frame_Shift_Del	DEL	ENST00000356654.4	37	c.1054delC	CCDS31734.1																																																																																				0.612	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		61	122						61	122	---	---	---	---	-	7045484	C	-	7045484	7	5	84	1	0	1	0	1	0	0	0	0	1111	912	32	0	1068	0	ATN1	12	7045484	Frame_Shift_Del	DEL	C	TCGA-DJ-A1QH-01A-21D-A14W-08		7045484	126806411	15	1912											
PZP	5858	broad.mit.edu	37	chr12	9352975	9352975	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcactctccacagactgttAtgttcactttttcatccatg	4	13	4	1			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr12:9352975A>C	ENST00000261336.2	-	7	768	c.740T>G	c.(739-741)aTa>aGa	p.I247R	PZP_ENST00000381997.2_Missense_Mutation_p.I116R	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	247					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ACAGACTGTTATGTTCACTTT	0.313																																					Melanoma(125;1402 1695 4685 34487 38571)	ENST00000261336.2																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						c.(739-741)aTa>aGa		pregnancy-zone protein							134	118	123					12																	9352975		2203	4300	6503	SO:0001583	missense	5858							g.chr12:9352975A>C	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.740T>G	12.37:g.9352975A>C	ENSP00000261336:p.Ile247Arg					PZP_ENST00000381997.2_Missense_Mutation_p.I116R	p.I247R	NM_002864.2	NP_002855.2					7	768	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.740T>G	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	A	13.39	2.223219	0.39300	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.36699	1.41;1.24	3.37	3.37	0.38596	.	0.229594	0.28393	U	0.015508	T	0.44244	0.1284	L	0.43923	1.385	0.09310	N	1	D;D	0.64830	0.994;0.966	P;P	0.60789	0.879;0.492	T	0.17410	-1.0370	10	0.87932	D	0	.	8.726	0.34469	1.0:0.0:0.0:0.0	.	116;247	P20742-2;P20742	.;PZP_HUMAN	R	247;116	ENSP00000261336:I247R;ENSP00000371427:I116R	ENSP00000261336:I247R	I	-	2	0	PZP	9244242	0.077000	0.21312	0.002000	0.10522	0.255000	0.26057	4.818000	0.62657	1.505000	0.48720	0.254000	0.18369	ATA		0.313	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		7	16	0	0	0	0.02938	0	7	16					C	9352975	A	C	9352975	3	2	84	1	0	0	0	0	1	0	0	0	12869	449	16	5	3828	5	PZP	12	9352975	Missense_Mutation	SNP	A	TCGA-DJ-A1QH-01A-21D-A14W-08	2307491	9352975	124498920	16	1913											
C12orf11	55726	broad.mit.edu	37	chr12	27089676	27089676	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctgcctgcaagattctgCcatataagggcagtgatcca	10	10	1	2			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr12:27089676C>T	ENST00000261191.7	-	2	597	c.61G>A	c.(61-63)Gca>Aca	p.A21T	ASUN_ENST00000539625.1_Intron|FGFR1OP2_ENST00000546072.1_5'Flank|FGFR1OP2_ENST00000327214.5_5'Flank|FGFR1OP2_ENST00000229395.3_5'Flank	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	21					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											CAAGATTCTGCCATATAAGGG	0.383																																						ENST00000261191.7																			0											c.(61-63)Gca>Aca		asunder spermatogenesis regulator							62	63	63					12																	27089676		2203	4300	6503	SO:0001583	missense	55726				cell division|mitosis|regulation of mitotic cell cycle		protein binding	g.chr12:27089676C>T	AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"spermatogenesis associated 30"	615079	"chromosome 12 open reading frame 11", "asunder, spermatogenesis regulator homolog (Drosphila)"	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.61G>A	12.37:g.27089676C>T	ENSP00000261191:p.Ala21Thr					ASUN_ENST00000539625.1_Intron	p.A21T	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN			2	597	-			21					B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Missense_Mutation	SNP	ENST00000261191.7	37	c.61G>A	CCDS8708.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.050405	0.75960	.	.	ENSG00000064102	ENST00000261191;ENST00000544548;ENST00000537336	T;T;T	0.49139	0.79;0.79;0.79	5.56	4.65	0.58169	.	0.114168	0.64402	D	0.000014	T	0.50905	0.1643	L	0.55481	1.735	0.80722	D	1	P	0.35328	0.495	B	0.42555	0.391	T	0.55250	-0.8170	10	0.66056	D	0.02	-19.7052	13.7105	0.62665	0.2802:0.7197:0.0:0.0	.	21	Q9NVM9	M89BB_HUMAN	T	21	ENSP00000261191:A21T;ENSP00000446183:A21T;ENSP00000443066:A21T	ENSP00000261191:A21T	A	-	1	0	C12orf11	26980943	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.442000	0.59988	1.431000	0.47355	0.655000	0.94253	GCA		0.383	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1	NM_018164		3	63	0	0	0	0.115264	0	3	63					T	27089676	C	T	27089676	3	4	84	1	0	0	0	0	1	0	0	0	1675	739	26	2	2123	2	C12orf11	12	27089676	Missense_Mutation	SNP	C	TCGA-DJ-A1QH-01A-21D-A14W-08	17736701	27089676	106762219	17	1914											
SNRNP35	11066	broad.mit.edu	37	chr12	123950629	123950629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctatagagagggaaaacGggaaaggcgggagcgatctc	15	8	2	1	rs371556636		TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr12:123950629G>A	ENST00000526639.2	+	2	1121	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	SNRNP35_ENST00000527158.2_Intron|SNRNP35_ENST00000350887.5_Missense_Mutation_p.R181Q|SNRNP35_ENST00000412157.2_Missense_Mutation_p.R186Q	NM_022717.3	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	181	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						GAGGGAAAACGGGAAAGGCGG	0.527																																						ENST00000526639.2																			0				NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						c.(541-543)cGg>cAg		small nuclear ribonucleoprotein 35kDa (U11/U12)		G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	43	50	48		542,557	5.8	0.8	12		48	0,8600		0,0,4300	no	missense,missense	SNRNP35	NM_022717.2,NM_180699.2	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	181/247,186/252	123950629	1,13005	2203	4300	6503	SO:0001583	missense	11066				mRNA processing	U12-type spliceosomal complex	nucleotide binding|RNA binding	g.chr12:123950629G>A	BC054034	CCDS9249.1, CCDS45005.1	12q24.31	2013-02-12				ENSG00000184209		"RNA binding motif (RRM) containing"	30852	protein-coding gene	gene with protein product	"U1 snRNP binding protein homolog"					10520751, 8889548	Standard	XM_005253545		Approved	U1SNRNPBP	uc001ufb.1	Q16560		ENST00000526639.2:c.542G>A	12.37:g.123950629G>A	ENSP00000432595:p.Arg181Gln					SNRNP35_ENST00000350887.5_Missense_Mutation_p.R181Q|SNRNP35_ENST00000527158.2_Intron|SNRNP35_ENST00000412157.2_Missense_Mutation_p.R186Q	p.R181Q	NM_022717.2	NP_073208.1	Q16560	U1SBP_HUMAN			2	1121	+			181			Arg-rich.		A8K262|Q5XKN9	Missense_Mutation	SNP	ENST00000526639.2	37	c.542G>A	CCDS9249.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.777966	0.49786	2.27E-4	0.0	ENSG00000184209	ENST00000526639;ENST00000412157;ENST00000350887	T;T;T	0.32753	1.45;1.44;1.45	5.76	5.76	0.90799	.	0.660738	0.14833	N	0.295745	T	0.12263	0.0298	N	0.08118	0	0.43808	D	0.996362	P;P	0.48089	0.825;0.905	B;B	0.30316	0.114;0.072	T	0.14200	-1.0481	10	0.18710	T	0.47	-16.2423	11.9133	0.52751	0.0:0.1381:0.7344:0.1275	.	186;181	Q16560-2;Q16560	.;U1SBP_HUMAN	Q	181;186;181	ENSP00000432595:R181Q;ENSP00000403310:R186Q;ENSP00000340774:R181Q	ENSP00000340774:R181Q	R	+	2	0	SNRNP35	122516582	0.999000	0.42202	0.837000	0.33122	0.928000	0.56348	4.265000	0.58865	2.753000	0.94483	0.555000	0.69702	CGG		0.527	SNRNP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395197.2	NM_007020		6	56	0	0	0	0.02938	0	6	56					A	123950629	G	A	123950629	3	1	84	1	0	0	0	0	1	0	0	0	14855	1116	39	1	563	1	SNRNP35	12	123950629	Missense_Mutation	SNP	G	TCGA-DJ-A1QH-01A-21D-A14W-08	96860953	123950629	9901266	18	1915											
SDCCAG1	9147	broad.mit.edu	37	chr14	50318332	50318332	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaggccactcaaattctgtTgtatgaattcgtatgccaga	8	8	2	2			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr14:50318332T>C	ENST00000298310.5	-	3	629	c.180A>G	c.(178-180)acA>acG	p.T60T	RN7SL3_ENST00000578231.1_RNA|NEMF_ENST00000545773.1_Silent_p.T60T|NEMF_ENST00000556672.1_Silent_p.T60T|NEMF_ENST00000546046.1_Silent_p.T60T			O60524	NEMF_HUMAN	nuclear export mediator factor	60					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						CAAATTCTGTTGTATGAATTC	0.358																																						ENST00000298310.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(178-180)acA>acG		nuclear export mediator factor							114	113	113					14																	50318332		2203	4300	6503	SO:0001819	synonymous_variant	9147					cytoplasm|nucleus		g.chr14:50318332T>C	AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"serologically defined colon cancer antigen 1"	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.180A>G	14.37:g.50318332T>C						NEMF_ENST00000546046.1_Silent_p.T60T|NEMF_ENST00000545773.1_Silent_p.T60T|NEMF_ENST00000556672.1_Silent_p.T60T	p.T60T			O60524	NEMF_HUMAN			3	629	-			60					A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Silent	SNP	ENST00000298310.5	37	c.180A>G	CCDS9694.1																																																																																				0.358	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713		3	47	0	0	0	0.009096	0	3	47					C	50318332	T	C	50318332	2	2	84	1	0	0	0	0	0	0	0	1	13957	1799	63	3		3	SDCCAG1	14	50318332	Silent	SNP	T	TCGA-DJ-A1QH-01A-21D-A14W-08		50318332	57031208	19	1916											
MTHFD1	4522	broad.mit.edu	37	chr14	64908830	64908830	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catcgcacatggcaattcctCcatcattgcagaccggatcg	8	14	1	1			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr14:64908830C>T	ENST00000545908.1	+	20	2340	c.2111C>T	c.(2110-2112)tCc>tTc	p.S704F	CTD-2555O16.4_ENST00000609125.1_RNA|MTHFD1_ENST00000216605.8_Missense_Mutation_p.S648F|CTD-2555O16.2_ENST00000556640.1_RNA			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	648	Formyltetrahydrofolate synthetase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	GGCAATTCCTCCATCATTGCA	0.498																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	ENST00000555709.1																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30						c.(1942-1944)tCc>tTc		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						115	101	106					14																	64908830		2203	4300	6503	SO:0001583	missense	4522				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding	g.chr14:64908830C>T	J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.2111C>T	14.37:g.64908830C>T	ENSP00000438588:p.Ser704Phe					CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000216605.7_Missense_Mutation_p.S704F|MTHFD1_ENST00000545908.1_Missense_Mutation_p.S704F	p.S648F	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	20	2330	+			648			Formyltetrahydrofolate synthetase.		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	ENST00000545908.1	37	c.1943C>T		.	.	.	.	.	.	.	.	.	.	C	19.88	3.909120	0.72868	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605	T;T;T	0.38077	1.16;1.16;1.16	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.79522	0.4460	H	0.99435	4.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.87693	0.2555	10	0.87932	D	0	-14.4291	20.5827	0.99408	0.0:1.0:0.0:0.0	.	704;648	F5H2F4;G3V2B8	.;.	F	704;648;704	ENSP00000438588:S704F;ENSP00000450560:S648F;ENSP00000216605:S704F	ENSP00000216605:S648F	S	+	2	0	MTHFD1	63978583	1.000000	0.71417	0.973000	0.42090	0.085000	0.17905	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	TCC		0.498	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1			4	46	0	0	0	0.014758	0	4	46					T	64908830	C	T	64908830	3	4	84	1	0	0	0	0	1	0	0	0	9927	855	30	2	2021	2	MTHFD1	14	64908830	Missense_Mutation	SNP	C	TCGA-DJ-A1QH-01A-21D-A14W-08	14590498	64908830	42440710	20	1917											
MAPKBP1	23005	broad.mit.edu	37	chr15	42115281	42115281	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtcctctggcaaccccagCccccagcaggcagcctctgt	9	20	2	0			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr15:42115281C>T	ENST00000456763.2	+	29	3673	c.3477C>T	c.(3475-3477)agC>agT	p.S1159S	RP11-23P13.4_ENST00000512295.1_RNA|RP11-23P13.4_ENST00000510176.1_RNA|MAPKBP1_ENST00000457542.2_Silent_p.S1153S|MAPKBP1_ENST00000221214.6_Silent_p.S1036S|MAPKBP1_ENST00000260357.7_Silent_p.S992S|MAPKBP1_ENST00000514566.1_Intron	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1159										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GCAACCCCAGCCCCCAGCAGG	0.657																																						ENST00000457542.2																			0				breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(3457-3459)agC>agT		mitogen-activated protein kinase binding protein 1							33	30	31					15																	42115281		2203	4300	6503	SO:0001819	synonymous_variant	23005							g.chr15:42115281C>T	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"WD repeat domain containing"	29536	protein-coding gene	gene with protein product			"mitogen activated protein kinase binding protein 1"			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.3477C>T	15.37:g.42115281C>T						MAPKBP1_ENST00000260357.7_Silent_p.S992S|MAPKBP1_ENST00000221214.6_Silent_p.S1036S|MAPKBP1_ENST00000456763.2_Silent_p.S1159S|MAPKBP1_ENST00000514566.1_Intron	p.S1153S	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	28	3745	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	1159					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Silent	SNP	ENST00000456763.2	37	c.3459C>T	CCDS45239.1																																																																																				0.657	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		22	28	0	0	0	0.055883	0	22	28					T	42115281	C	T	42115281	2	4	84	1	0	0	0	0	0	0	0	1	9292	738	26	2		2	MAPKBP1	15	42115281	Silent	SNP	C	TCGA-DJ-A1QH-01A-21D-A14W-08		42115281	60416111	21	1918											
YBX2	51087	broad.mit.edu	37	chr17	7193773	7193773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccgggggatgaatcggcGggacttacgtcggttggggg	21	7	0	1			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr17:7193773G>A	ENST00000007699.5	-	5	604	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C	YBX2_ENST00000570627.1_5'UTR	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	181					mRNA stabilization (GO:0048255)|negative regulation of binding (GO:0051100)|negative regulation of translation (GO:0017148)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|translational attenuation (GO:0009386)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lipid binding (GO:0008289)|mRNA 3'-UTR binding (GO:0003730)|ribonucleoprotein complex binding (GO:0043021)|translation regulator activity (GO:0045182)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						ATGAATCGGCGGGACTTACGT	0.647																																						ENST00000007699.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						c.(541-543)Cgc>Tgc		Y box binding protein 2							35	39	37					17																	7193773		2194	4282	6476	SO:0001583	missense	51087				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding	g.chr17:7193773G>A	AF096834	CCDS11098.1	17p13.1	2013-12-20			ENSG00000006047	ENSG00000006047			17948	protein-coding gene	gene with protein product		611447				10100484, 9780336	Standard	NM_015982		Approved	MSY2, CSDA3	uc002gfq.2	Q9Y2T7	OTTHUMG00000177992	ENST00000007699.5:c.541C>T	17.37:g.7193773G>A	ENSP00000007699:p.Arg181Cys					YBX2_ENST00000570627.1_5'UTR	p.R181C	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN			5	604	-			181					D3DTP1|Q8N4P0	Missense_Mutation	SNP	ENST00000007699.5	37	c.541C>T	CCDS11098.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.453200	0.84209	.	.	ENSG00000006047	ENST00000007699	T	0.32988	1.43	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.57344	0.2047	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.63111	-0.6710	10	0.87932	D	0	-4.7685	15.478	0.75501	0.0:0.0:1.0:0.0	.	181	Q9Y2T7	YBOX2_HUMAN	C	181	ENSP00000007699:R181C	ENSP00000007699:R181C	R	-	1	0	YBX2	7134497	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	4.383000	0.59600	2.613000	0.88420	0.561000	0.74099	CGC		0.647	YBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440172.2	NM_015982		3	55	0	0	0	0.115264	0	3	55					A	7193773	G	A	7193773	3	1	84	1	0	0	0	0	1	0	0	0	17467	1116	39	1	569	1	YBX2	17	7193773	Missense_Mutation	SNP	G	TCGA-DJ-A1QH-01A-21D-A14W-08		7193773	74001437	22	1919											
STXBP4	252983	broad.mit.edu	37	chr17	53063607	53063607	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatacatctactgtagtAtcacccagtctacttgaaaa	4	9	3	1			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr17:53063607A>G	ENST00000376352.2	+	3	234	c.27A>G	c.(25-27)gtA>gtG	p.V9V	STXBP4_ENST00000405898.1_Silent_p.V9V|STXBP4_ENST00000398391.2_5'UTR|STXBP4_ENST00000434978.2_Silent_p.V9V|STXBP4_ENST00000299341.4_5'UTR	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	9					cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						CTACTGTAGTATCACCCAGTC	0.259																																						ENST00000376352.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						c.(25-27)gtA>gtG		syntaxin binding protein 4							56	62	60					17																	53063607		2203	4291	6494	SO:0001819	synonymous_variant	252983					cytoplasm	calcium ion binding	g.chr17:53063607A>G	BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.27A>G	17.37:g.53063607A>G						STXBP4_ENST00000398391.2_5'UTR|STXBP4_ENST00000434978.2_Silent_p.V9V|STXBP4_ENST00000299341.4_5'UTR|STXBP4_ENST00000405898.1_Silent_p.V9V	p.V9V	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN			3	234	+			9					Q8IVZ5	Silent	SNP	ENST00000376352.2	37	c.27A>G	CCDS11584.2																																																																																				0.259	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157184.1	NM_178509		24	35	0	0	0	0.116897	0	24	35					G	53063607	A	G	53063607	2	3	84	1	0	0	0	0	0	0	0	1	15354	436	16	3		3	STXBP4	17	53063607	Silent	SNP	A	TCGA-DJ-A1QH-01A-21D-A14W-08	45869834	53063607	28131603	23	1920											
MYOM1	8736	broad.mit.edu	37	chr18	3102502	3102502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctttcgacttccaatcgtGgagagtcctcagtggataca	10	10	1	1			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr18:3102502G>A	ENST00000356443.4	-	23	3878	c.3545C>T	c.(3544-3546)cCa>cTa	p.P1182L	MYOM1_ENST00000400569.3_Missense_Mutation_p.P1182L|MYOM1_ENST00000261606.7_Missense_Mutation_p.P1086L	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1182	Ig-like C2-type 3.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTCCAATCGTGGAGAGTCCTC	0.433																																						ENST00000400569.3																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(3544-3546)cCa>cTa		myomesin 1							215	209	211					18																	3102502		1896	4130	6026	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3102502G>A	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.3545C>T	18.37:g.3102502G>A	ENSP00000348821:p.Pro1182Leu					MYOM1_ENST00000356443.4_Missense_Mutation_p.P1182L|MYOM1_ENST00000261606.7_Missense_Mutation_p.P1086L	p.P1182L			P52179	MYOM1_HUMAN			23	3878	-			1182			Ig-like C2-type 3.		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.3545C>T	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.517412	0.27123	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.66815	-0.23;-0.23;-0.23	5.46	5.46	0.80206	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.168819	0.53938	D	0.000044	T	0.60637	0.2284	L	0.29908	0.895	0.47698	D	0.999496	P;P	0.43857	0.819;0.461	B;B	0.42798	0.398;0.232	T	0.59542	-0.7435	10	0.33141	T	0.24	.	19.3	0.94140	0.0:0.0:1.0:0.0	.	1086;1182	P52179-2;P52179	.;MYOM1_HUMAN	L	1182;1182;1086	ENSP00000348821:P1182L;ENSP00000383413:P1182L;ENSP00000261606:P1086L	ENSP00000261606:P1086L	P	-	2	0	MYOM1	3092502	0.995000	0.38212	0.430000	0.26722	0.089000	0.18198	5.406000	0.66357	2.554000	0.86153	0.557000	0.71058	CCA		0.433	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		25	110	0	0	0	0.116897	0	25	110					A	3102502	G	A	3102502	3	1	84	1	0	0	0	0	1	0	0	0	10091	1348	47	2	1576	2	MYOM1	18	3102502	Missense_Mutation	SNP	G	TCGA-DJ-A1QH-01A-21D-A14W-08		3102502	74974746	24	1921											
TMPRSS15	5651	broad.mit.edu	37	chr21	19770630	19770630	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtcgctctggcttcatgactCtgtccaagtgctgcacctag	10	13	3	1			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr21:19770630C>T	ENST00000284885.3	-	2	195	c.162G>A	c.(160-162)caG>caA	p.Q54Q		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	54	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					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						CTTCATGACTCTGTCCAAGTG	0.343																																						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.(160-162)caG>caA		transmembrane protease, serine 15							70	72	71					21																	19770630		2203	4300	6503	SO:0001819	synonymous_variant	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19770630C>T		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.162G>A	21.37:g.19770630C>T							p.Q54Q	NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN			2	195	-			54			SEA.		Q2NKL7	Silent	SNP	ENST00000284885.3	37	c.162G>A	CCDS13571.1																																																																																				0.343	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		4	67	0	0	0	0.009096	0	4	67					T	19770630	C	T	19770630	2	4	84	1	0	0	0	0	0	0	0	1	16243	912	32	2		2	TMPRSS15	21	19770630	Silent	SNP	C	TCGA-DJ-A1QH-01A-21D-A14W-08		19770630	28359265	25	1922											
PPEF1	5475	broad.mit.edu	37	chrX	18748426	18748426	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgaacaaggccaaatgcaGgtctgttttgcaagcttttc	10	8	1	1			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chrX:18748426G>T	ENST00000361511.4	+	5	668	c.174G>T	c.(172-174)caG>caT	p.Q58H	PPEF1_ENST00000359763.6_Splice_Site_p.Q58H|PPEF1_ENST00000544635.1_Intron|PPEF1_ENST00000349874.5_Splice_Site_p.Q58H|PPEF1_ENST00000543630.1_Splice_Site_p.Q58H|PPEF1_ENST00000471570.1_3'UTR	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	58					detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					GCCAAATGCAGGTCTGTTTTG	0.423																																						ENST00000361511.4																			0				breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43						c.e5+1		protein phosphatase, EF-hand calcium binding domain 1							223	172	189					X																	18748426		2203	4300	6503	SO:0001630	splice_region_variant	5475				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chrX:18748426G>T	BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	9243	protein-coding gene	gene with protein product	"protein phosphatase 7, catalytic subunit, alpha isozyme"	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.174+1G>T	X.37:g.18748426G>T						PPEF1_ENST00000471570.1_3'UTR|PPEF1_ENST00000544635.1_Intron|PPEF1_ENST00000349874.5_Splice_Site_p.Q58_splice|PPEF1_ENST00000543630.1_Splice_Site_p.Q58_splice|PPEF1_ENST00000359763.6_Splice_Site_p.Q58_splice	p.Q58_splice	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN			5	668	+	Hepatocellular(33;0.183)		58					A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Splice_Site	SNP	ENST00000361511.4	37	c.174_splice	CCDS14188.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047001	0.75846	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000543630	T;T;T;T	0.25414	3.15;2.97;3.0;1.8	5.72	5.72	0.89469	.	0.000000	0.51477	D	0.000099	T	0.50548	0.1622	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.998	T	0.50398	-0.8833	10	0.72032	D	0.01	-10.6144	17.5039	0.87739	0.0:0.0:1.0:0.0	.	58;58;58	O14829-5;O14829;O14829-3	.;PPE1_HUMAN;.	H	58	ENSP00000354871:Q58H;ENSP00000352806:Q58H;ENSP00000341892:Q58H;ENSP00000437785:Q58H	ENSP00000341892:Q58H	Q	+	3	2	PPEF1	18658347	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	8.525000	0.90583	2.403000	0.81681	0.506000	0.49869	CAG		0.423	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240	Missense_Mutation	73	110	1	0	9.42754e-34	0.139131	1.13131e-33	73	110					T	18748426	G	T	18748426	5	4	84	1	0	0	0	0	0	0	1	0	12307	1014	35	4	180	4	PPEF1	23	18748426	Splice_Site	SNP	G	TCGA-DJ-A1QH-01A-21D-A14W-08		18748426	136522134	26	1923											
GLRA4	441509	broad.mit.edu	37	chrX	102977177	102977177	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccacttggacagcaggagcAtcttccagccactcaaacac	8	15	2	0			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chrX:102977177A>G	ENST00000372617.4	-	6	1041	c.621T>C	c.(619-621)gaT>gaC	p.D207D	GLRA4_ENST00000469567.1_5'Flank	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	207						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)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CAGCAGGAGCATCTTCCAGCC	0.537																																						ENST00000372617.4																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(619-621)gaT>gaC		glycine receptor, alpha 4							115	123	121					X																	102977177		2140	4254	6394	SO:0001819	synonymous_variant	441509					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:102977177A>G	Z93848	CCDS43980.2	Xq22.2	2012-01-16			ENSG00000188828	ENSG00000188828		"Ligand-gated ion channels / Glycine receptors"	31715	protein-coding gene	gene with protein product							Standard	NM_001024452		Approved		uc011mse.2	Q5JXX5	OTTHUMG00000022110	ENST00000372617.4:c.621T>C	X.37:g.102977177A>G							p.D207D	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN			6	1041	-			207						Silent	SNP	ENST00000372617.4	37	c.621T>C	CCDS43980.2																																																																																				0.537	GLRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057742.2	NM_001024452		9	208	0	0	0	0.058154	0	9	208					G	102977177	A	G	102977177	2	3	84	1	0	0	0	0	0	0	0	1	6457	214	8	3		3	GLRA4	23	102977177	Silent	SNP	A	TCGA-DJ-A1QH-01A-21D-A14W-08	84228751	102977177	52293383	27	1924											
IFI44	10561	broad.mit.edu	37	chr1	79116042	79116042	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggcctactctaacagtgatTtatagtgaagatcatattat	8	6	2	3			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr1:79116042T>A	ENST00000370747.4	+	2	247	c.162T>A	c.(160-162)atT>atA	p.I54I	IFI44_ENST00000545124.1_Intron|IFI44_ENST00000495254.1_Intron	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	54					response to virus (GO:0009615)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						TAACAGTGATTTATAGTGAAG	0.393																																						ENST00000370747.4																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(160-162)atT>atA		interferon-induced protein 44							181	178	179					1																	79116042		2203	4300	6503	SO:0001819	synonymous_variant	10561				response to virus	cytoplasm		g.chr1:79116042T>A	D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 5"	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.162T>A	1.37:g.79116042T>A						IFI44_ENST00000545124.1_Intron|IFI44_ENST00000495254.1_Intron	p.I54I	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN			2	247	+			54					B7ZAG3|D3DQ80|Q14496	Silent	SNP	ENST00000370747.4	37	c.162T>A	CCDS688.1																																																																																				0.393	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026825.1	NM_006417		4	153	0	0	0	0.014758	0	4	153					A	79116042	T	A	79116042	2	1	85	1	0	0	0	0	0	0	0	1	7517	1829	64	5		5	IFI44	1	79116042	Silent	SNP	T	TCGA-DJ-A1QI-01A-11D-A14W-08		79116042	170134579	1	1925											
HEATR1	55127	broad.mit.edu	37	chr1	236734652	236734652	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatatcattaacgcttaccGgaaatattccagcaacagtg	6	9	1	0			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr1:236734652G>A	ENST00000366582.3	-	28	4061	c.3947C>T	c.(3946-3948)cCg>cTg	p.P1316L	HEATR1_ENST00000366581.2_Splice_Site_p.P1235L	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1316					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AACGCTTACCGGAAATATTCC	0.403																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.e28+1		HEAT repeat containing 1							49	51	51					1																	236734652		2203	4300	6503	SO:0001630	splice_region_variant	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236734652G>A	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.3948+1C>T	1.37:g.236734652G>A						HEATR1_ENST00000366581.2_Splice_Site_p.P1235_splice	p.P1316_splice	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		28	4061	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	1316					Q5T3Q8|Q6P197|Q9NW23	Splice_Site	SNP	ENST00000366582.3	37	c.3948_splice	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	G	31	5.090596	0.94149	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.56941	0.43;0.43	5.36	5.36	0.76844	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77658	0.4163	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.974;1.0	T	0.81398	-0.0951	10	0.66056	D	0.02	.	19.0871	0.93209	0.0:0.0:1.0:0.0	.	1235;1316	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	L	1316;1235	ENSP00000355541:P1316L;ENSP00000355540:P1235L	ENSP00000355540:P1235L	P	-	2	0	HEATR1	234801275	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.504000	0.84457	0.585000	0.79938	CCG		0.403	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853	Missense_Mutation	3	53	0	0	0	0.115264	0	3	53					A	236734652	G	A	236734652	5	1	85	1	0	0	0	0	0	0	1	0	7027	1130	39	1	2559	1	HEATR1	1	236734652	Splice_Site	SNP	G	TCGA-DJ-A1QI-01A-11D-A14W-08	157618610	236734652	12515969	2	1926											
ANKAR	150709	broad.mit.edu	37	chr2	190595298	190595298	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttccagtacttatccaactaCtaagaaatcacccttctcct	2	14	2	1			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr2:190595298C>G	ENST00000520309.1	+	16	3359	c.3271C>G	c.(3271-3273)Cta>Gta	p.L1091V	ANKAR_ENST00000438402.2_Intron|ANKAR_ENST00000281412.6_Intron|ANKAR_ENST00000431575.2_Missense_Mutation_p.L1020V|ANKAR_ENST00000313581.4_Missense_Mutation_p.L1091V	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1091						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TATCCAACTACTAAGAAATCA	0.338																																						ENST00000520309.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(3271-3273)Cta>Gta		ankyrin and armadillo repeat containing							99	93	95					2																	190595298		2203	4300	6503	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190595298C>G	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"Ankyrin repeat domain containing", "Armadillo repeat containing"	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.3271C>G	2.37:g.190595298C>G	ENSP00000427882:p.Leu1091Val					ANKAR_ENST00000281412.6_Intron|ANKAR_ENST00000438402.2_Intron|ANKAR_ENST00000431575.2_Missense_Mutation_p.L1020V|ANKAR_ENST00000313581.4_Missense_Mutation_p.L1091V	p.L1091V	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		16	3359	+			1091					Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.3271C>G	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003558	0.54254	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000431575;ENST00000374838	T;T;T	0.64260	-0.09;-0.09;-0.09	4.12	4.12	0.48240	.	0.000000	0.47093	D	0.000249	T	0.73410	0.3583	M	0.67953	2.075	0.80722	D	1	D	0.71674	0.998	D	0.71184	0.972	T	0.75470	-0.3306	10	0.72032	D	0.01	-3.497	9.4494	0.38717	0.0:0.8986:0.0:0.1014	.	167	E9PHS9	.	V	1091;1091;1020;167	ENSP00000427882:L1091V;ENSP00000313513:L1091V;ENSP00000393043:L1020V	ENSP00000313513:L1091V	L	+	1	2	ANKAR	190303543	0.982000	0.34865	0.941000	0.38009	0.967000	0.64934	2.699000	0.47077	2.295000	0.77249	0.491000	0.48974	CTA		0.338	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		14	27	0	0	0	0.038395	0	14	27					G	190595298	C	G	190595298	3	3	85	1	0	0	0	0	1	0	0	0	623	564	20	4	3329	4	ANKAR	2	190595298	Missense_Mutation	SNP	C	TCGA-DJ-A1QI-01A-11D-A14W-08		190595298	52604075	3	1927											
STXBP5L	9515	broad.mit.edu	37	chr3	121097680	121097680	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctggaagaccaccatttcGaaaggcccagtcagcagcct	9	14	1	1	rs368965958		TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr3:121097680G>A	ENST00000273666.6	+	22	2637	c.2366G>A	c.(2365-2367)cGa>cAa	p.R789Q	STXBP5L_ENST00000471454.1_Missense_Mutation_p.R765Q|STXBP5L_ENST00000497029.1_Intron|STXBP5L_ENST00000472879.1_Missense_Mutation_p.R765Q|STXBP5L_ENST00000492541.1_Missense_Mutation_p.R789Q	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	789					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CCACCATTTCGAAAGGCCCAG	0.398																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2365-2367)cGa>cAa		syntaxin binding protein 5-like		G	GLN/ARG	0,3696		0,0,1848	54	51	52		2366	5.1	1.0	3		52	2,8200		0,2,4099	no	missense	STXBP5L	NM_014980.2	43	0,2,5947	AA,AG,GG		0.0244,0.0,0.0168	possibly-damaging	789/1187	121097680	2,11896	1848	4101	5949	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:121097680G>A	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"WD repeat domain containing"	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.2366G>A	3.37:g.121097680G>A	ENSP00000273666:p.Arg789Gln					STXBP5L_ENST00000472879.1_Missense_Mutation_p.R765Q|STXBP5L_ENST00000471454.1_Missense_Mutation_p.R765Q|STXBP5L_ENST00000497029.1_Intron|STXBP5L_ENST00000492541.1_Missense_Mutation_p.R789Q	p.R789Q	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	22	2637	+			789					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.2366G>A	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.481576	0.63849	0.0	2.44E-4	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000492541	T;T;T;T	0.28454	1.82;1.85;1.65;1.61	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.26919	0.0659	L	0.51422	1.61	0.80722	D	1	D;P	0.54601	0.967;0.787	B;B	0.39068	0.289;0.197	T	0.10154	-1.0642	10	0.11485	T	0.65	-9.7102	17.7945	0.88565	0.0:0.0:1.0:0.0	.	765;789	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	Q	789;765;765;789	ENSP00000273666:R789Q;ENSP00000420019:R765Q;ENSP00000419627:R765Q;ENSP00000420666:R789Q	ENSP00000273666:R789Q	R	+	2	0	STXBP5L	122580370	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.182000	0.94881	2.514000	0.84764	0.585000	0.79938	CGA		0.398	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			17	31	0	0	0	0.062417	0	17	31					A	121097680	G	A	121097680	3	1	85	1	0	0	0	0	1	0	0	0	15356	1058	37	1	2448	1	STXBP5L	3	121097680	Missense_Mutation	SNP	G	TCGA-DJ-A1QI-01A-11D-A14W-08		121097680	76924750	4	1928											
OR2H2	7932	broad.mit.edu	37	chr6	29556434	29556434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggaggaaagcttttgggaCctgctcctcccatctcactg	11	13	1	0			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr6:29556434C>T	ENST00000383640.2	+	1	752	c.713C>T	c.(712-714)aCc>aTc	p.T238I	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	238					defense response (GO:0006952)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|mating (GO:0007618)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						GCTTTTGGGACCTGCTCCTCC	0.532																																						ENST00000383640.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						c.(712-714)aCc>aTc		olfactory receptor, family 2, subfamily H, member 2							108	102	105					6																	29556434		1511	2709	4220	SO:0001583	missense	7932				defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29556434C>T		CCDS34365.1	6p22.2-p21.31	2012-08-09				ENSG00000204657		"GPCR / Class A : Olfactory receptors"	8253	protein-coding gene	gene with protein product		600578					Standard	XM_005249407		Approved	hs6M1-12	uc003nmr.1	O95918		ENST00000383640.2:c.713C>T	6.37:g.29556434C>T	ENSP00000373136:p.Thr238Ile					GABBR1_ENST00000355973.3_Intron	p.T238I	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN			1	752	+			238					Q15062|Q2M1Y3|Q5STL8|Q5SUK1|Q6IFN7|Q6NTB7|Q96R14	Missense_Mutation	SNP	ENST00000383640.2	37	c.713C>T	CCDS34365.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.142938	0.57044	.	.	ENSG00000204657	ENST00000383640	T	0.42513	0.97	4.09	3.22	0.36961	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42548	D	0.000688	T	0.50752	0.1634	M	0.94063	3.49	0.36245	D	0.853555	P	0.50066	0.931	P	0.50659	0.647	T	0.64504	-0.6392	10	0.72032	D	0.01	.	10.7172	0.46019	0.0:0.9032:0.0:0.0968	.	238	O95918	OR2H2_HUMAN	I	238	ENSP00000373136:T238I	ENSP00000373136:T238I	T	+	2	0	OR2H2	29664413	1.000000	0.71417	0.933000	0.37362	0.651000	0.38670	4.507000	0.60434	0.921000	0.36994	-0.237000	0.12165	ACC		0.532	OR2H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076057.2			10	68	0	0	0	0.069234	0	10	68					T	29556434	C	T	29556434	3	4	85	1	0	0	0	0	1	0	0	0	11002	507	18	2	715	2	OR2H2	6	29556434	Missense_Mutation	SNP	C	TCGA-DJ-A1QI-01A-11D-A14W-08		29556434	141558633	5	1929											
SP4	6671	broad.mit.edu	37	chr7	21469100	21469100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacgcttggcaacttgttgCctccactcctcctgcttcaa	6	15	1	0			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr7:21469100C>T	ENST00000222584.3	+	3	535	c.317C>T	c.(316-318)gCc>gTc	p.A106V		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	106					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.A106V(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						CAACTTGTTGCCTCCACTCCT	0.438																																						ENST00000222584.3																			1	Substitution - Missense(1)	p.A106V(1)	kidney(1)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(316-318)gCc>gTc		Sp4 transcription factor							102	86	92					7																	21469100		2203	4300	6503	SO:0001583	missense	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21469100C>T		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.317C>T	7.37:g.21469100C>T	ENSP00000222584:p.Ala106Val						p.A106V	NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN			3	535	+			106					O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	c.317C>T	CCDS5373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.50|15.50	2.850554|2.850554	0.51270|0.51270	.|.	.|.	ENSG00000105866|ENSG00000105866	ENST00000222584|ENST00000446800	T|.	0.09445|.	2.98|.	4.46|4.46	4.46|4.46	0.54185|0.54185	.|.	0.110120|.	0.64402|.	D|.	0.000007|.	T|T	0.63663|0.63663	0.2530|0.2530	L|L	0.40543|0.40543	1.245|1.245	0.53688|0.53688	D|D	0.999977|0.999977	B|.	0.19583|.	0.037|.	B|.	0.18871|.	0.023|.	T|T	0.68465|0.68465	-0.5401|-0.5401	10|6	0.66056|0.87932	D|D	0.02|0	.|.	17.3279|17.3279	0.87255|0.87255	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	106|.	Q02446|.	SP4_HUMAN|.	V|S	106|83	ENSP00000222584:A106V|.	ENSP00000222584:A106V|ENSP00000402421:P83S	A|P	+|+	2|1	0|0	SP4|SP4	21435625|21435625	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.110000|7.110000	0.77069|0.77069	2.308000|2.308000	0.77769|0.77769	0.655000|0.655000	0.94253|0.94253	GCC|CCT		0.438	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		20	32	0	0	0	0.076483	0	20	32					T	21469100	C	T	21469100	3	4	85	1	0	0	0	0	1	0	0	0	14966	739	26	2	327	2	SP4	7	21469100	Missense_Mutation	SNP	C	TCGA-DJ-A1QI-01A-11D-A14W-08		21469100	137669563	6	1930											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		33	51	0	0	0	0.059317	0	33	51					T	140453136	A	T	140453136	3	4	85	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A1QI-01A-11D-A14W-08	118984036	140453136	18685527	7	1931											
BHLHE22	27319	broad.mit.edu	37	chr8	65493711	65493711	+	Frame_Shift_Del	DEL	G	G	-													gcctaagcagcctgccggccGgggccgccctttgcctcaag							TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr8:65493711delG	ENST00000321870.1	+	1	898	c.364delG	c.(364-366)gggfs	p.G122fs	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	122	Gly-rich.				anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						CCTGCCGGCCGGGGCCGCCCT	0.751																																					Colon(113;104 1586 2865 9855 18065)	ENST00000321870.1																			0				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						c.(364-366)ggfs		basic helix-loop-helix family, member e22							4	5	4					8																	65493711		1556	3263	4819	SO:0001589	frameshift_variant	27319				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr8:65493711delG	U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"Basic helix-loop-helix proteins"	11963	protein-coding gene	gene with protein product		613483	"trinucleotide repeat containing 20", "basic helix-loop-helix domain containing, class B, 5"	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.364delG	8.37:g.65493711delG	ENSP00000318799:p.Gly122fs					RP11-21C4.1_ENST00000517909.1_RNA	p.G122fs	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN			1	898	+			122			Gly-rich.			Frame_Shift_Del	DEL	ENST00000321870.1	37	c.364delG	CCDS6179.1																																																																																				0.751	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378549.1	NM_152414		2	4						2	4	---	---	---	---	-	65493711	G	-	65493711	7	5	85	1	0	1	0	1	0	0	0	0	1421	1116	39	0	366	0	BHLHE22	8	65493711	Frame_Shift_Del	DEL	G	TCGA-DJ-A1QI-01A-11D-A14W-08		65493711	80870311	8	1932											
C10orf53	282966	broad.mit.edu	37	chr10	50902594	50902594	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttccctaggaggcgatggTaaactagacccactgtgtga	12	9	0	2			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr10:50902594T>C	ENST00000374111.3	+	3	240	c.228T>C	c.(226-228)ggT>ggC	p.G76G	C10orf53_ENST00000374112.3_Intron|C10orf53_ENST00000374113.3_3'UTR|C10orf53_ENST00000535836.1_Intron	NM_001042427.1	NP_001035892.1	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	76										endometrium(1)|lung(6)	7		all_neural(218;0.107)				GAGGCGATGGTAAACTAGACC	0.458																																						ENST00000374111.3																			0				endometrium(1)|lung(6)	7						c.(226-228)ggT>ggC		chromosome 10 open reading frame 53							96	98	97					10																	50902594		1962	4160	6122	SO:0001819	synonymous_variant	282966							g.chr10:50902594T>C	BC028127	CCDS31202.1, CCDS41521.1	10q11.23	2012-05-24			ENSG00000178645	ENSG00000178645			27421	protein-coding gene	gene with protein product						12477932	Standard	NM_182554		Approved	Em:AC069546.1	uc001jid.1	Q8N6V4	OTTHUMG00000018199	ENST00000374111.3:c.228T>C	10.37:g.50902594T>C						C10orf53_ENST00000535836.1_Intron|C10orf53_ENST00000374112.3_Intron|C10orf53_ENST00000374113.3_3'UTR	p.G76G	NM_001042427.1	NP_001035892.1	Q8N6V4	CJ053_HUMAN			3	240	+		all_neural(218;0.107)	76					A6NI81|A6NLE0|B9ZVK6	Silent	SNP	ENST00000374111.3	37	c.228T>C	CCDS41521.1																																																																																				0.458	C10orf53-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048005.1	NM_182554		4	45	0	0	0	0.009096	0	4	45					C	50902594	T	C	50902594	2	2	85	1	0	0	0	0	0	0	0	1	1606	1625	57	3		3	C10orf53	10	50902594	Silent	SNP	T	TCGA-DJ-A1QI-01A-11D-A14W-08		50902594	84632153	9	1933											
PCCA	5095	broad.mit.edu	37	chr13	100807310	100807310	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agctacctcaacatggatgcCatcatggaagccattaagaa	8	10	2	1			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr13:100807310C>G	ENST00000376285.1	+	5	416	c.378C>G	c.(376-378)gcC>gcG	p.A126A	PCCA_ENST00000376279.3_Silent_p.A126A|PCCA_ENST00000376286.4_Silent_p.A100A|PCCA_ENST00000485946.1_3'UTR	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	126	Biotin carboxylation.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	ACATGGATGCCATCATGGAAG	0.458																																						ENST00000376285.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26						c.(376-378)gcC>gcG		propionyl CoA carboxylase, alpha polypeptide	Biotin(DB00121)						115	112	113					13																	100807310		2203	4300	6503	SO:0001819	synonymous_variant	5095				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity	g.chr13:100807310C>G	X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"propionyl Coenzyme A carboxylase, alpha polypeptide"			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.378C>G	13.37:g.100807310C>G						PCCA_ENST00000376286.4_Silent_p.A100A|PCCA_ENST00000485946.1_3'UTR|PCCA_ENST00000376279.3_Silent_p.A126A	p.A126A	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN			5	416	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		126			Biotin carboxylation.		B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Silent	SNP	ENST00000376285.1	37	c.378C>G	CCDS9496.2																																																																																				0.458	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045627.2			7	113	0	0	0	0.02938	0	7	113					G	100807310	C	G	100807310	2	3	85	1	0	0	0	0	0	0	0	1	11504	581	21	4		4	PCCA	13	100807310	Silent	SNP	C	TCGA-DJ-A1QI-01A-11D-A14W-08		100807310	14362568	10	1934											
FGF7	2252	broad.mit.edu	37	chr15	49776583	49776583	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatatgcatcagctaaatGgacacacaacggaggggaaa	10	9	1	0			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr15:49776583G>A	ENST00000267843.4	+	4	1078	c.467G>A	c.(466-468)tGg>tAg	p.W156*	FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	156					actin cytoskeleton reorganization (GO:0031532)|branching involved in salivary gland morphogenesis (GO:0060445)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle morphogenesis (GO:0031069)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|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 keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization to cell surface (GO:0034394)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|response to wounding (GO:0009611)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)		TCAGCTAAATGGACACACAAC	0.348																																						ENST00000267843.4																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(466-468)tGg>tAg		fibroblast growth factor 7	Palifermin(DB00039)						54	52	53					15																	49776583		2034	3876	5910	SO:0001587	stop_gained	2252				actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity	g.chr15:49776583G>A	M60828	CCDS10131.1	15q21.2	2014-01-30	2010-08-18		ENSG00000140285	ENSG00000140285		"Endogenous ligands"	3685	protein-coding gene	gene with protein product	"keratinocyte growth factor"	148180	"fibroblast growth factor 7 (keratinocyte growth factor)"			7749227, 1409637	Standard	NM_002009		Approved	KGF	uc001zxn.3	P21781	OTTHUMG00000131517	ENST00000267843.4:c.467G>A	15.37:g.49776583G>A	ENSP00000267843:p.Trp156*					FAM227B_ENST00000299338.6_Intron|FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000561064.1_Intron	p.W156*	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	4	1078	+		all_lung(180;0.00391)	156					H0YNY5|Q6FGV5|Q96FG5	Nonsense_Mutation	SNP	ENST00000267843.4	37	c.467G>A	CCDS10131.1	.	.	.	.	.	.	.	.	.	.	G	37	6.034833	0.97221	.	.	ENSG00000140285	ENST00000267843	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	19.9276	0.97108	0.0:0.0:1.0:0.0	.	.	.	.	X	156	.	ENSP00000267843:W156X	W	+	2	0	FGF7	47563875	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.597000	0.98273	2.801000	0.96364	0.650000	0.86243	TGG		0.348	FGF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254374.3	NM_002009		3	66	0	0	0	0.115264	0	3	66					A	49776583	G	A	49776583	4	1	85	1	0	0	0	0	0	1	0	0	5857	1357	47	2	477	2	FGF7	15	49776583	Nonsense_Mutation	SNP	G	TCGA-DJ-A1QI-01A-11D-A14W-08		49776583	52754809	11	1935											
IGF1R	3480	broad.mit.edu	37	chr15	99440012	99440012	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcatcccttgtgaaggtcCttgcccgaaggtctgtgagg	13	11	1	2			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr15:99440012C>A	ENST00000268035.6	+	4	1591	c.980C>A	c.(979-981)cCt>cAt	p.P327H	IGF1R_ENST00000558762.1_Missense_Mutation_p.P327H|IGF1R_ENST00000560432.1_3'UTR	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	327					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	TGTGAAGGTCCTTGCCCGAAG	0.393																																						ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(979-981)cCt>cAt		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						99	89	92					15																	99440012		2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99440012C>A	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.980C>A	15.37:g.99440012C>A	ENSP00000268035:p.Pro327His					IGF1R_ENST00000560432.1_3'UTR|IGF1R_ENST00000558762.1_Missense_Mutation_p.P327H	p.P327H	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		4	1591	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		327					B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.980C>A	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576812	0.65878	.	.	ENSG00000140443	ENST00000268035	D	0.97575	-4.44	5.79	5.79	0.91817	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.64402	D	0.000020	D	0.98305	0.9438	M	0.77103	2.36	0.58432	D	0.999999	D;D	0.76494	0.999;0.989	D;D	0.65773	0.938;0.929	D	0.98268	1.0502	10	0.49607	T	0.09	.	20.04	0.97581	0.0:1.0:0.0:0.0	.	327;327	C9J5X1;P08069	.;IGF1R_HUMAN	H	327	ENSP00000268035:P327H	ENSP00000268035:P327H	P	+	2	0	IGF1R	97257535	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	2.983000	0.49345	2.733000	0.93635	0.655000	0.94253	CCT		0.393	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		3	40	1	0	0.115264	0.115264	0.125743	3	40					A	99440012	C	A	99440012	3	1	85	1	0	0	0	0	1	0	0	0	7571	681	24	4	994	4	IGF1R	15	99440012	Missense_Mutation	SNP	C	TCGA-DJ-A1QI-01A-11D-A14W-08	49663429	99440012	3091380	12	1936											
GLG1	2734	broad.mit.edu	37	chr16	74640592	74640592	+	Frame_Shift_Del	DEL	T	T	-													ggcactcgagcaccgccaggTtgttgctccaggtgtgctta							TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr16:74640592delT	ENST00000422840.2	-	1	400	c.401delA	c.(400-402)aacfs	p.N134fs	GLG1_ENST00000205061.5_Frame_Shift_Del_p.N134fs|GLG1_ENST00000447066.2_Frame_Shift_Del_p.N134fs	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	134					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CACCGCCAGGTTGTTGCTCCA	0.706																																						ENST00000422840.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						c.(400-402)acfs		golgi glycoprotein 1							51	56	54					16																	74640592		2198	4300	6498	SO:0001589	frameshift_variant	2734					Golgi membrane|integral to membrane	receptor binding	g.chr16:74640592delT		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"golgi apparatus protein 1"			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.401delA	16.37:g.74640592delT	ENSP00000405984:p.Asn134fs					GLG1_ENST00000205061.5_Frame_Shift_Del_p.N134fs|GLG1_ENST00000447066.2_Frame_Shift_Del_p.N134fs	p.N134fs	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN			1	400	-			134					B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Frame_Shift_Del	DEL	ENST00000422840.2	37	c.401delA	CCDS45527.1																																																																																				0.706	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		24	49						24	49	---	---	---	---	-	74640592	T	-	74640592	7	5	85	1	0	1	0	1	0	0	0	0	6436	1725	60	0	3322	0	GLG1	16	74640592	Frame_Shift_Del	DEL	T	TCGA-DJ-A1QI-01A-11D-A14W-08		74640592	15714161	13	1937											
BTBD17	388419	broad.mit.edu	37	chr17	72352829	72352829	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggataagggtgtggtatacGggcttgacgatgaggtgcag	18	5	0	2			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr17:72352829G>A	ENST00000375366.3	-	3	1530	c.1404C>T	c.(1402-1404)ccC>ccT	p.P468P		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	468					negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|lung(4)	6						TGTGGTATACGGGCTTGACGA	0.652																																						ENST00000375366.3																			0				endometrium(1)|kidney(1)|lung(4)	6						c.(1402-1404)ccC>ccT		BTB (POZ) domain containing 17							83	78	80					17																	72352829		2203	4300	6503	SO:0001819	synonymous_variant	388419					extracellular region		g.chr17:72352829G>A		CCDS32719.1	17q25.1	2013-01-08			ENSG00000204347	ENSG00000204347		"BTB/POZ domain containing"	33758	protein-coding gene	gene with protein product	"transport and golgi organization 10 homolog A (Drosophila)"						Standard	NM_001080466		Approved	LGALS3BPL, BTBD17A, TANGO10A	uc002jkn.2	A6NE02	OTTHUMG00000178580	ENST00000375366.3:c.1404C>T	17.37:g.72352829G>A							p.P468P	NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN			3	1530	-			468						Silent	SNP	ENST00000375366.3	37	c.1404C>T	CCDS32719.1																																																																																				0.652	BTBD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442542.1	NM_001080466		3	38	0	0	0	0.115264	0	3	38					A	72352829	G	A	72352829	2	1	85	1	0	0	0	0	0	0	0	1	1542	1103	39	1		1	BTBD17	17	72352829	Silent	SNP	G	TCGA-DJ-A1QI-01A-11D-A14W-08		72352829	8842381	14	1938											
TCEAL3	85012	broad.mit.edu	37	chrX	102864105	102864105	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaggaagaaaagccagacgTggaggggaagacagaatgcg	17	6	0	4			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chrX:102864105T>C	ENST00000372628.1	+	3	471	c.113T>C	c.(112-114)gTg>gCg	p.V38A	TCEAL3_ENST00000372627.5_Missense_Mutation_p.V38A|TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000243286.3_Missense_Mutation_p.V38A			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	38	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						aagccagacgtggaggggaag	0.498																																						ENST00000372628.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						c.(112-114)gTg>gCg		transcription elongation factor A (SII)-like 3							152	112	126					X																	102864105		2203	4300	6503	SO:0001583	missense	85012				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:102864105T>C	BC008703	CCDS14511.1	Xq22.2	2014-03-21			ENSG00000196507	ENSG00000196507			28247	protein-coding gene	gene with protein product						16221301	Standard	NM_032926		Approved	MGC15737, WEX8	uc004ekr.3	Q969E4	OTTHUMG00000022106	ENST00000372628.1:c.113T>C	X.37:g.102864105T>C	ENSP00000361711:p.Val38Ala					TCEAL3_ENST00000243286.3_Missense_Mutation_p.V38A|TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000372627.5_Missense_Mutation_p.V38A	p.V38A			Q969E4	TCAL3_HUMAN			3	471	+			38			Glu-rich.		D3DXA4	Missense_Mutation	SNP	ENST00000372628.1	37	c.113T>C	CCDS14511.1	.	.	.	.	.	.	.	.	.	.	T	2.177	-0.388564	0.04932	.	.	ENSG00000196507	ENST00000372628;ENST00000372627;ENST00000243286	T;T;T	0.21031	2.03;2.03;2.03	4.03	-1.84	0.07809	.	1.682470	0.03761	N	0.258110	T	0.11024	0.0269	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.17930	-1.0353	10	0.08381	T	0.77	.	2.7289	0.05221	0.4387:0.2322:0.0:0.329	.	38	Q969E4	TCAL3_HUMAN	A	38	ENSP00000361711:V38A;ENSP00000361710:V38A;ENSP00000243286:V38A	ENSP00000243286:V38A	V	+	2	0	TCEAL3	102750761	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.030000	0.12308	-0.426000	0.07360	0.437000	0.28790	GTG		0.498	TCEAL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057737.1	NM_032926		3	43	0	0	0	0.115264	0	3	43					C	102864105	T	C	102864105	3	2	85	1	0	0	0	0	1	0	0	0	15669	1696	59	3	115	3	TCEAL3	23	102864105	Missense_Mutation	SNP	T	TCGA-DJ-A1QI-01A-11D-A14W-08		102864105	52406455	15	1939											
SPANXN1	494118	broad.mit.edu	37	chrX	144329165	144329165	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagagcccctgtgaatccaAcaatgaaaatgatgaggtaa	10	7	0	5			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chrX:144329165A>G	ENST00000370493.3	+	1	818	c.59A>G	c.(58-60)aAc>aGc	p.N20S		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	20										endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TGTGAATCCAACAATGAAAAT	0.448																																						ENST00000370493.3																			0				endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14						c.(58-60)aAc>aGc		SPANX family, member N1							234	201	212					X																	144329165		2203	4299	6502	SO:0001583	missense	494118							g.chrX:144329165A>G		CCDS35421.1	Xq27.3	2009-03-25				ENSG00000203923			33174	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 6"	300664				14973187, 17012309	Standard	NM_001009614		Approved	SPANX-N1, CT11.6	uc004fcb.2	Q5VSR9		ENST00000370493.3:c.59A>G	X.37:g.144329165A>G	ENSP00000359524:p.Asn20Ser						p.N20S	NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN			1	818	+	Acute lymphoblastic leukemia(192;6.56e-05)		20						Missense_Mutation	SNP	ENST00000370493.3	37	c.59A>G	CCDS35421.1	.	.	.	.	.	.	.	.	.	.	A	0.561	-0.845307	0.02671	.	.	ENSG00000203923	ENST00000370493	T	0.14516	2.5	.	.	.	.	.	.	.	.	T	0.09818	0.0241	.	.	.	0.09310	N	1	B	0.27166	0.17	B	0.26310	0.068	T	0.31943	-0.9925	6	0.87932	D	0	.	.	.	.	.	20	Q5VSR9	SPXN1_HUMAN	S	20	ENSP00000359524:N20S	ENSP00000359524:N20S	N	+	2	0	SPANXN1	144136857	0.002000	0.14202	0.216000	0.23742	0.220000	0.24768	0.318000	0.19504	0.046000	0.15833	0.046000	0.15203	AAC		0.448	SPANXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058631.2	NM_001009614		4	188	0	0	0	0.009096	0	4	188					G	144329165	A	G	144329165	3	3	85	1	0	0	0	0	1	0	0	0	14990	43	2	3	61	3	SPANXN1	23	144329165	Missense_Mutation	SNP	A	TCGA-DJ-A1QI-01A-11D-A14W-08	41465060	144329165	10941395	16	1940											
EDEM1	9695	broad.mit.edu	37	chr3	5255103	5255103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagcatcttcgggaattgCcatggaaggaattcttctct	10	8	3	1	rs183693683	byFrequency	TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr3:5255103C>T	ENST00000256497.4	+	11	1913	c.1780C>T	c.(1780-1782)Cca>Tca	p.P594S		NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	594					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	calcium ion binding (GO:0005509)|misfolded protein binding (GO:0051787)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		TCGGGAATTGCCATGGAAGGA	0.478													C|||	2	0.000399361	0	0.0029	5008	,	,		20006	0		0	False		,,,				2504	0					ENST00000256497.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(1780-1782)Cca>Tca		ER degradation enhancer, mannosidase alpha-like 1							91	82	85					3																	5255103		2203	4300	6503	SO:0001583	missense	9695				ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr3:5255103C>T	D86967	CCDS33686.1	3p26.1	2008-02-05			ENSG00000134109	ENSG00000134109			18967	protein-coding gene	gene with protein product		607673				12610306	Standard	NM_014674		Approved	KIAA0212, EDEM	uc003bqi.3	Q92611	OTTHUMG00000154896	ENST00000256497.4:c.1780C>T	3.37:g.5255103C>T	ENSP00000256497:p.Pro594Ser						p.P594S	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN		Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)	11	1913	+			594					A8K9C8|B4DXP3	Missense_Mutation	SNP	ENST00000256497.4	37	c.1780C>T	CCDS33686.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	C	11.12	1.544647	0.27563	.	.	ENSG00000134109	ENST00000256497	D	0.81996	-1.56	5.42	5.42	0.78866	.	0.445764	0.26927	N	0.021783	T	0.56031	0.1958	N	0.08118	0	0.35331	D	0.785656	B	0.13594	0.008	B	0.06405	0.002	T	0.61307	-0.7089	10	0.06625	T	0.88	-25.6372	12.5698	0.56331	0.0:0.9244:0.0:0.0756	.	594	Q92611	EDEM1_HUMAN	S	594	ENSP00000256497:P594S	ENSP00000256497:P594S	P	+	1	0	EDEM1	5230103	0.058000	0.20735	0.808000	0.32385	0.750000	0.42670	1.909000	0.39917	2.530000	0.85305	0.655000	0.94253	CCA		0.478	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337566.2	NM_014674		3	33	0	0	0	0.000248	0	3	33					T	5255103	C	T	5255103	3	4	86	1	0	0	0	0	1	0	0	0	4911	739	26	2	1822	2	EDEM1	3	5255103	Missense_Mutation	SNP	C	TCGA-DJ-A1QL-01A-11D-A14W-08		5255103	192767327	1	1941											
RAD54L2	23132	broad.mit.edu	37	chr3	51675796	51675796	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ccaccttggctctcatcgagGaattccttggaaaacgagaa	9	11	1	1			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr3:51675796G>C	ENST00000409535.2	+	14	2388	c.2263G>C	c.(2263-2265)Gaa>Caa	p.E755Q	RAD54L2_ENST00000296477.3_Missense_Mutation_p.E449Q	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	755	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TCTCATCGAGGAATTCCTTGG	0.483																																						ENST00000409535.1																			0				NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31						c.(2263-2265)Gaa>Caa		RAD54-like 2 (S. cerevisiae)							135	109	118					3																	51675796		2203	4298	6501	SO:0001583	missense	23132					nucleus	ATP binding|DNA binding|helicase activity	g.chr3:51675796G>C	AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.2263G>C	3.37:g.51675796G>C	ENSP00000386520:p.Glu755Gln					RAD54L2_ENST00000296477.3_Missense_Mutation_p.E449Q	p.E755Q	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)	14	2388	+			755			Helicase C-terminal.		Q8TB57|Q9BV54	Missense_Mutation	SNP	ENST00000409535.2	37	c.2263G>C	CCDS33765.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.14|15.14	2.746006|2.746006	0.49151|0.49151	.|.	.|.	ENSG00000164080|ENSG00000164080	ENST00000409535;ENST00000296477|ENST00000432863	T;T|.	0.76839|.	-1.05;-1.05|.	5.95|5.95	5.95|5.95	0.96441|0.96441	Helicase, C-terminal (2);|.	0.093439|.	0.64402|.	D|.	0.000001|.	T|T	0.53578|0.53578	0.1805|0.1805	N|N	0.17278|0.17278	0.47|0.47	0.49299|0.49299	D|D	0.999777|0.999777	B;B|.	0.18863|.	0.031;0.031|.	B;B|.	0.14023|.	0.01;0.01|.	T|T	0.45702|0.45702	-0.9243|-0.9243	10|5	0.34782|.	T|.	0.22|.	-22.2683|-22.2683	19.3906|19.3906	0.94581|0.94581	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	755;346|.	Q9Y4B4;B3KV54|.	ARIP4_HUMAN;.|.	Q|A	755;449|583	ENSP00000386520:E755Q;ENSP00000296477:E449Q|.	ENSP00000296477:E449Q|.	E|G	+|+	1|2	0|0	RAD54L2|RAD54L2	51650836|51650836	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.564000|0.564000	0.35744|0.35744	7.879000|7.879000	0.87236|0.87236	2.827000|2.827000	0.97445|0.97445	0.650000|0.650000	0.86243|0.86243	GAA|GGA		0.483	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106		2	8	0	0	0	0.004672	0	2	8					C	51675796	G	C	51675796	3	2	86	1	0	0	0	0	1	0	0	0	12994	1175	41	4	2313	4	RAD54L2	3	51675796	Missense_Mutation	SNP	G	TCGA-DJ-A1QL-01A-11D-A14W-08	46420693	51675796	146346634	2	1942											
SIDT1	54847	broad.mit.edu	37	chr3	113300224	113300224	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgcccggtgtatgatcTcgaccacaatgtggaattta	11	9	1	1			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr3:113300224T>G	ENST00000264852.4	+	6	1406	c.680T>G	c.(679-681)cTc>cGc	p.L227R	SIDT1_ENST00000393830.3_Missense_Mutation_p.L227R	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	227					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						GTGTATGATCTCGACCACAAT	0.458																																						ENST00000264852.4																			0				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(679-681)cTc>cGc		SID1 transmembrane family, member 1							192	150	165					3																	113300224		2203	4300	6503	SO:0001583	missense	54847					integral to membrane		g.chr3:113300224T>G	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.680T>G	3.37:g.113300224T>G	ENSP00000264852:p.Leu227Arg					SIDT1_ENST00000393830.3_Missense_Mutation_p.L227R	p.L227R	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN			6	1406	+			227					Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	c.680T>G	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	T	17.71	3.457753	0.63401	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.24350	1.86;1.86	5.12	5.12	0.69794	.	0.000000	0.51477	D	0.000097	T	0.53690	0.1812	M	0.85197	2.74	0.52099	D	0.999944	D	0.89917	1.0	D	0.91635	0.999	T	0.56177	-0.8022	10	0.32370	T	0.25	-15.5368	14.1901	0.65633	0.0:0.0:0.0:1.0	.	227	Q9NXL6	SIDT1_HUMAN	R	227	ENSP00000264852:L227R;ENSP00000377416:L227R	ENSP00000264852:L227R	L	+	2	0	SIDT1	114782914	1.000000	0.71417	0.797000	0.32132	0.586000	0.36452	5.746000	0.68681	2.045000	0.60652	0.482000	0.46254	CTC		0.458	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699		30	42	0	0	0	0.002096	0	30	42					G	113300224	T	G	113300224	3	3	86	1	0	0	0	0	1	0	0	0	14302	1551	54	5	702	5	SIDT1	3	113300224	Missense_Mutation	SNP	T	TCGA-DJ-A1QL-01A-11D-A14W-08	61624428	113300224	84722206	3	1943											
SLITRK3	22865	broad.mit.edu	37	chr3	164906912	164906912	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cactgtttaaaggggaccagGtcacaggtgcagtcccaagg	13	10	1	0			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr3:164906912G>C	ENST00000475390.1	-	2	2150	c.1707C>G	c.(1705-1707)gaC>gaG	p.D569E	SLITRK3_ENST00000241274.3_Missense_Mutation_p.D569E			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	569	LRRCT 2.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AGGGGACCAGGTCACAGGTGC	0.517										HNSCC(40;0.11)																												ENST00000475390.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(1705-1707)gaC>gaG		SLIT and NTRK-like family, member 3							99	91	93					3																	164906912		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164906912G>C	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1707C>G	3.37:g.164906912G>C	ENSP00000420091:p.Asp569Glu	HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_Missense_Mutation_p.D569E	p.D569E			O94933	SLIK3_HUMAN			2	2150	-			569			LRRCT 2.		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.1707C>G	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254251	0.22965	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.52983	0.64;0.64	5.81	3.99	0.46301	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.40064	N	0.001194	T	0.43964	0.1271	L	0.58969	1.84	0.43084	D	0.99474	B	0.11235	0.004	B	0.12156	0.007	T	0.38735	-0.9647	10	0.56958	D	0.05	-17.5076	10.8945	0.47015	0.0677:0.2442:0.688:0.0	.	569	O94933	SLIK3_HUMAN	E	569	ENSP00000420091:D569E;ENSP00000241274:D569E	ENSP00000241274:D569E	D	-	3	2	SLITRK3	166389606	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.717000	0.25851	0.884000	0.36064	0.655000	0.94253	GAC		0.517	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		19	33	0	0	0	0.001523	0	19	33					C	164906912	G	C	164906912	3	2	86	1	0	0	0	0	1	0	0	0	14744	1252	44	4	1230	4	SLITRK3	3	164906912	Missense_Mutation	SNP	G	TCGA-DJ-A1QL-01A-11D-A14W-08	51606688	164906912	33115518	4	1944											
C4orf21	55345	broad.mit.edu	37	chr4	113508691	113508691	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgcatcccagaaacagcCtcagcaaagaagccatcagt	7	12	2	2			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr4:113508691C>T	ENST00000505019.1	-	12	3647	c.3522G>A	c.(3520-3522)gaG>gaA	p.E1174E		NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1174						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CAGAAACAGCCTCAGCAAAGA	0.413																																						ENST00000505019.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(3520-3522)gaG>gaA		chromosome 4 open reading frame 21							188	199	195					4																	113508691		2203	4300	6503	SO:0001819	synonymous_variant	55345							g.chr4:113508691C>T																												ENST00000505019.1:c.3522G>A	4.37:g.113508691C>T							p.E1174E	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	12	3647	-		Ovarian(17;0.156)	0					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Silent	SNP	ENST00000505019.1	37	c.3522G>A																																																																																					0.413	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			77	145	0	0	0	0.00361	0	77	145					T	113508691	C	T	113508691	2	4	86	1	0	0	0	0	0	0	0	1	2254	680	24	2		2	C4orf21	4	113508691	Silent	SNP	C	TCGA-DJ-A1QL-01A-11D-A14W-08		113508691	77645585	5	1945											
PCDHGC3	5098	broad.mit.edu	37	chr5	140857072	140857072	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttctcaatcttcctacgaCgtttacattgaagaaaacaa	4	10	3	2			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr5:140857072C>T	ENST00000308177.3	+	1	1493	c.1389C>T	c.(1387-1389)gaC>gaT	p.D463D	PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	463	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCCTACGACGTTTACATTG	0.512																																						ENST00000308177.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(1387-1389)gaC>gaT									138	145	143					5																	140857072		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140857072C>T	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"Cadherins / Protocadherins : Clustered"	8716	other	protocadherin	"cadherin-like 2", "protocadherin 2", "protocadherin 43"	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.1389C>T	5.37:g.140857072C>T						PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.D463D	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1493	+								O60622|Q08192|Q9Y5C4	Silent	SNP	ENST00000308177.3	37	c.1389C>T	CCDS4261.1																																																																																				0.512	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		5	158	0	0	0	0.001168	0	5	158					T	140857072	C	T	140857072	2	4	86	1	0	0	0	0	0	0	0	1	11569	535	19	1		1	PCDHGC3	5	140857072	Silent	SNP	C	TCGA-DJ-A1QL-01A-11D-A14W-08		140857072	40058188	6	1946											
ATP10B	23120	broad.mit.edu	37	chr5	160047602	160047602	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcaccagggcggcctcaTcagggctctcagcctcgtaa	12	15	3	0			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr5:160047602T>C	ENST00000327245.5	-	15	3014	c.2168A>G	c.(2167-2169)gAt>gGt	p.D723G	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	723					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCGGCCTCATCAGGGCTCTC	0.642																																						ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(2167-2169)gAt>gGt		ATPase, class V, type 10B							33	38	36					5																	160047602		2095	4228	6323	SO:0001583	missense	23120				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.chr5:160047602T>C	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.2168A>G	5.37:g.160047602T>C	ENSP00000313600:p.Asp723Gly					CTC-348L5.1_ENST00000523598.1_RNA	p.D723G	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		15	3014	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	723					Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.2168A>G	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.606952	0.87157	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	T;T	0.78595	-1.19;-1.19	5.36	5.36	0.76844	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.91352	0.7272	H	0.95745	3.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93771	0.7075	9	.	.	.	.	14.5725	0.68220	0.0:0.0:0.0:1.0	.	331;723	Q2YDW8;O94823	.;AT10B_HUMAN	G	723;331	ENSP00000313600:D723G;ENSP00000431081:D331G	.	D	-	2	0	ATP10B	159980180	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	7.888000	0.87302	2.042000	0.60477	0.533000	0.62120	GAT		0.642	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		6	39	0	0	0	0.00308	0	6	39					C	160047602	T	C	160047602	3	2	86	1	0	0	0	0	1	0	0	0	1117	1435	50	3	2265	3	ATP10B	5	160047602	Missense_Mutation	SNP	T	TCGA-DJ-A1QL-01A-11D-A14W-08	19190530	160047602	20867658	7	1947											
NEIL2	252969	broad.mit.edu	37	chr8	11637219	11637219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgcagaaggaaggggctgCggacccaaagcaggtcgggg	19	8	0	1			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr8:11637219C>T	ENST00000284503.6	+	3	850	c.251C>T	c.(250-252)gCg>gTg	p.A84V	NEIL2_ENST00000455213.2_Missense_Mutation_p.A84V|NEIL2_ENST00000403422.3_Missense_Mutation_p.A23V|NEIL2_ENST00000528323.1_Intron|NEIL2_ENST00000436750.3_Missense_Mutation_p.A84V	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	84					base-excision repair (GO:0006284)|nucleotide-excision repair (GO:0006289)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		GAAGGGGCTGCGGACCCAAAG	0.557								Base excision repair (BER), DNA glycosylases																														ENST00000284503.6																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10						c.(250-252)gCg>gTg	Base excision repair (BER), DNA glycosylases	nei endonuclease VIII-like 2 (E. coli)							59	70	66					8																	11637219		2203	4300	6503	SO:0001583	missense	252969				base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding	g.chr8:11637219C>T	AK056206	CCDS5984.1, CCDS47802.1, CCDS47803.1	8p23.1	2010-04-27	2010-04-27		ENSG00000154328	ENSG00000154328			18956	protein-coding gene	gene with protein product		608933	"nei like 2 (E. coli)"			12097317, 17686777	Standard	NM_145043		Approved	NEH2, FLJ31644, MGC2832, MGC4505	uc003wue.2	Q969S2	OTTHUMG00000090753	ENST00000284503.6:c.251C>T	8.37:g.11637219C>T	ENSP00000284503:p.Ala84Val					NEIL2_ENST00000528323.1_Intron|NEIL2_ENST00000455213.2_Missense_Mutation_p.A84V|NEIL2_ENST00000436750.3_Missense_Mutation_p.A84V|NEIL2_ENST00000403422.3_Missense_Mutation_p.A23V	p.A84V	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)	3	850	+	all_epithelial(15;0.103)		84					B4DFR7|Q7Z3Q7|Q8N842|Q8NG52	Missense_Mutation	SNP	ENST00000284503.6	37	c.251C>T	CCDS5984.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.636330	0.29068	.	.	ENSG00000154328	ENST00000530433;ENST00000455213;ENST00000403422;ENST00000436750;ENST00000284503	T;T;T;T	0.04758	3.56;3.56;3.56;3.56	5.41	-10.8	0.00216	DNA glycosylase/AP lyase, catalytic domain (2);	2.894660	0.01553	N	0.019747	T	0.01661	0.0053	N	0.03608	-0.345	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.43669	-0.9377	10	0.33141	T	0.24	-31.8102	1.0944	0.01670	0.2093:0.225:0.3141:0.2516	.	84	Q969S2	NEIL2_HUMAN	V	84;84;23;84;84	ENSP00000397538:A84V;ENSP00000384070:A23V;ENSP00000394023:A84V;ENSP00000284503:A84V	ENSP00000284503:A84V	A	+	2	0	NEIL2	11674628	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-3.429000	0.00474	-2.073000	0.00878	-0.380000	0.06706	GCG		0.557	NEIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207583.3	NM_145043		4	132	0	0	0	0.000602	0	4	132					T	11637219	C	T	11637219	3	4	86	1	0	0	0	0	1	0	0	0	10319	768	27	1	262	1	NEIL2	8	11637219	Missense_Mutation	SNP	C	TCGA-DJ-A1QL-01A-11D-A14W-08		11637219	134726803	8	1948											
WRN	7486	broad.mit.edu	37	chr8	31004953	31004953	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatgttcccccagctattcTggcaacaaacaagatactgg	9	11	1	1			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr8:31004953T>C	ENST00000298139.5	+	30	3782	c.3533T>C	c.(3532-3534)cTg>cCg	p.L1178P		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1178	HRDC. {ECO:0000255|PROSITE- ProRule:PRU00328}.				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)		CCAGCTATTCTGGCAACAAAC	0.343			"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.(3532-3534)cTg>cCg	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like							98	98	98					8																	31004953		2203	4300	6503	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.chr8:31004953T>C		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.3533T>C	8.37:g.31004953T>C	ENSP00000298139:p.Leu1178Pro						p.L1178P	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)	30	3782	+		Breast(100;0.195)	1178			HRDC.		A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	c.3533T>C	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	T	19.11	3.764768	0.69878	.	.	ENSG00000165392	ENST00000298139	T	0.50001	0.76	4.97	4.97	0.65823	HRDC-like (1);Helicase/RNase D C-terminal, HRDC domain (3);	0.000000	0.64402	D	0.000013	T	0.69922	0.3165	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.75300	-0.3366	10	0.87932	D	0	-8.2858	14.6037	0.68460	0.0:0.0:0.0:1.0	.	588;1178	Q59F09;Q14191	.;WRN_HUMAN	P	1178	ENSP00000298139:L1178P	ENSP00000298139:L1178P	L	+	2	0	WRN	31124495	1.000000	0.71417	0.992000	0.48379	0.876000	0.50452	6.143000	0.71756	1.990000	0.58119	0.533000	0.62120	CTG		0.343	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			21	32	0	0	0	0.00333	0	21	32					C	31004953	T	C	31004953	3	2	86	1	0	0	0	0	1	0	0	0	17399	1580	55	3	3647	3	WRN	8	31004953	Missense_Mutation	SNP	T	TCGA-DJ-A1QL-01A-11D-A14W-08	19367734	31004953	115359069	9	1949											
C9orf72	203228	broad.mit.edu	37	chr9	27567087	27567087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatctctgtcttggcaacaGctggagatggcggtgggcaa	14	9	2	1			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr9:27567087G>A	ENST00000380003.3	-	2	95	c.32C>T	c.(31-33)gCt>gTt	p.A11V	C9orf72_ENST00000488117.1_5'UTR|C9orf72_ENST00000379997.3_Missense_Mutation_p.A11V	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	11					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular space (GO:0005615)|lysosome (GO:0005764)|nucleus (GO:0005634)	Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		CTTGGCAACAGCTGGAGATGG	0.423																																						ENST00000380003.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23						c.(31-33)gCt>gTt		chromosome 9 open reading frame 72							69	66	67					9																	27567087		2203	4298	6501	SO:0001583	missense	203228							g.chr9:27567087G>A	AL832467	CCDS6522.1, CCDS6523.1	9p21.1	2014-09-17			ENSG00000147894	ENSG00000147894			28337	protein-coding gene	gene with protein product		614260				21944778, 24549040	Standard	NM_145005		Approved	MGC23980	uc003zqq.3	Q96LT7	OTTHUMG00000019716	ENST00000380003.3:c.32C>T	9.37:g.27567087G>A	ENSP00000369339:p.Ala11Val					C9orf72_ENST00000379997.3_Missense_Mutation_p.A11V|C9orf72_ENST00000488117.1_5'UTR	p.A11V	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)	2	95	-		all_neural(11;7.57e-10)	11					A8K5W0|D3DRK6|G8I0B6|Q6NUS9	Missense_Mutation	SNP	ENST00000380003.3	37	c.32C>T	CCDS6522.1	.	.	.	.	.	.	.	.	.	.	G	33	5.222152	0.95139	.	.	ENSG00000147894	ENST00000380003;ENST00000379997;ENST00000379995	T;T;T	0.52754	0.68;0.65;0.65	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.57475	0.2056	N	0.24115	0.695	0.80722	D	1	D;D	0.67145	0.996;0.994	D;D	0.75484	0.986;0.909	T	0.51663	-0.8677	9	.	.	.	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	11;11	Q96LT7-2;Q96LT7	.;CI072_HUMAN	V	11	ENSP00000369339:A11V;ENSP00000369333:A11V;ENSP00000369331:A11V	.	A	-	2	0	C9orf72	27557087	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.420000	0.97426	2.840000	0.97914	0.655000	0.94253	GCT		0.423	C9orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051969.1	NM_018325		22	30	0	0	0	0.00278	0	22	30					A	27567087	G	A	27567087	3	1	86	1	0	0	0	0	1	0	0	0	2495	971	34	2	1457	2	C9orf72	9	27567087	Missense_Mutation	SNP	G	TCGA-DJ-A1QL-01A-11D-A14W-08		27567087	113646344	10	1950											
TAF1L	138474	broad.mit.edu	37	chr9	32631455	32631455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagtggttccaactcgccGtttcttctttggaggaagct	10	10	2	0	rs533523762	byFrequency	TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr9:32631455G>A	ENST00000242310.4	-	1	4212	c.4123C>T	c.(4123-4125)Cgg>Tgg	p.R1375W	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1375					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCAACTCGCCGTTTCTTCTTT	0.458													G|||	2	0.000399361	0	0	5008	,	,		21262	0.002		0	False		,,,				2504	0					ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(4123-4125)Cgg>Tgg		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							210	208	209					9																	32631455		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32631455G>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.4123C>T	9.37:g.32631455G>A	ENSP00000418379:p.Arg1375Trp						p.R1375W	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	4212	-			1375					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.4123C>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605499	0.66445	.	.	ENSG00000122728	ENST00000242310	T	0.10860	2.83	0.479	0.479	0.16796	.	0.000000	0.85682	D	0.000000	T	0.18676	0.0448	M	0.64170	1.965	0.49483	D	0.999799	D	0.71674	0.998	P	0.56916	0.809	T	0.01839	-1.1263	10	0.87932	D	0	.	6.6915	0.23174	2.0E-4:0.0:0.9998:0.0	.	1375	Q8IZX4	TAF1L_HUMAN	W	1375	ENSP00000418379:R1375W	ENSP00000418379:R1375W	R	-	1	2	TAF1L	32621455	1.000000	0.71417	0.976000	0.42696	0.811000	0.45836	2.826000	0.48104	0.507000	0.28148	0.195000	0.17529	CGG		0.458	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			87	141	0	0	0	0.00361	0	87	141					A	32631455	G	A	32631455	3	1	86	1	0	0	0	0	1	0	0	0	15520	1144	40	1	1361	1	TAF1L	9	32631455	Missense_Mutation	SNP	G	TCGA-DJ-A1QL-01A-11D-A14W-08	5064368	32631455	108581976	11	1951											
GALNTL4	374378	broad.mit.edu	37	chr11	11400737	11400737	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccttcctgcttgctgtgacGcacgactttgatgaagcctg	11	12	0	3			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr11:11400737G>T	ENST00000227756.4	-	4	1081	c.670C>A	c.(670-672)Cgt>Agt	p.R224S		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	224	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										TTGCTGTGACGCACGACTTTG	0.567																																						ENST00000227756.4																			0											c.(670-672)Cgt>Agt		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18							152	124	133					11																	11400737		2201	4294	6495	SO:0001583	missense	374378							g.chr11:11400737G>T	AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"Glycosyltransferase family 2 domain containing"	30488	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 18"	615136	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.670C>A	11.37:g.11400737G>T	ENSP00000227756:p.Arg224Ser						p.R224S	NM_198516.2	NP_940918.2					4	1081	-								O95903|Q8NDY9	Missense_Mutation	SNP	ENST00000227756.4	37	c.670C>A	CCDS7807.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517763	0.85495	.	.	ENSG00000110328	ENST00000227756	T	0.64260	-0.09	5.98	5.98	0.97165	Glycosyl transferase, family 2 (1);	0.202272	0.41605	D	0.000858	D	0.83248	0.5213	M	0.88310	2.945	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.85391	0.1125	10	0.87932	D	0	.	19.0102	0.92870	0.0:0.0:1.0:0.0	.	224	Q6P9A2	GLTL4_HUMAN	S	224	ENSP00000227756:R224S	ENSP00000227756:R224S	R	-	1	0	GALNTL4	11357313	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.786000	0.99046	2.838000	0.97847	0.514000	0.50259	CGT		0.567	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1	NM_198516		18	39	1	0	8.00594e-06	0.007413	1.08316e-05	18	39					T	11400737	G	T	11400737	3	4	86	1	0	0	0	0	1	0	0	0	6223	1087	38	4	1185	4	GALNTL4	11	11400737	Missense_Mutation	SNP	G	TCGA-DJ-A1QL-01A-11D-A14W-08		11400737	123605779	12	1952											
SLC22A11	55867	broad.mit.edu	37	chr11	64326627	64326627	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggacctggtgtgcagctcCcagggcttgaagcccctaag	14	12	0	1			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr11:64326627C>T	ENST00000301891.4	+	2	788	c.414C>T	c.(412-414)tcC>tcT	p.S138S	SLC22A11_ENST00000490834.1_Intron|SLC22A11_ENST00000377581.3_Silent_p.S138S|SLC22A11_ENST00000377585.3_Silent_p.S138S	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	138					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	TGTGCAGCTCCCAGGGCTTGA	0.637																																						ENST00000301891.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(412-414)tcC>tcT		solute carrier family 22 (organic anion/urate transporter), member 11	Probenecid(DB01032)						122	110	114					11																	64326627		2201	4297	6498	SO:0001819	synonymous_variant	55867				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity	g.chr11:64326627C>T	AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"Solute carriers"	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.414C>T	11.37:g.64326627C>T						SLC22A11_ENST00000490834.1_Intron|SLC22A11_ENST00000377585.3_Silent_p.S138S|SLC22A11_ENST00000377581.3_Silent_p.S138S	p.S138S	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN			2	788	+			138					A8K426|Q53GR2|Q6ZP72|Q8NBU4	Silent	SNP	ENST00000301891.4	37	c.414C>T	CCDS8074.1																																																																																				0.637	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	NM_018484		33	60	0	0	0	0.003271	0	33	60					T	64326627	C	T	64326627	2	4	86	1	0	0	0	0	0	0	0	1	14442	610	22	2		2	SLC22A11	11	64326627	Silent	SNP	C	TCGA-DJ-A1QL-01A-11D-A14W-08	52925890	64326627	70679889	13	1953											
USP28	57646	broad.mit.edu	37	chr11	113705033	113705033	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ataactgagaacaagtcttcGaaattcaggcaattgaaaga	8	6	2	3			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr11:113705033G>A	ENST00000003302.4	-	6	627	c.559C>T	c.(559-561)Cga>Tga	p.R187*	USP28_ENST00000260188.5_Nonsense_Mutation_p.R187*|USP28_ENST00000542033.1_5'UTR|USP28_ENST00000537706.1_Nonsense_Mutation_p.R187*|USP28_ENST00000545540.1_Nonsense_Mutation_p.R62*	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	187	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.R187*(1)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ACAAGTCTTCGAAATTCAGGC	0.343																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			1	Substitution - Nonsense(1)	p.R187*(1)	skin(1)	breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(559-561)Cga>Tga		ubiquitin specific peptidase 28							104	95	98					11																	113705033		2201	4296	6497	SO:0001587	stop_gained	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113705033G>A	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"Ubiquitin-specific peptidases"	12625	protein-coding gene	gene with protein product		610748	"ubiquitin specific protease 28"			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.559C>T	11.37:g.113705033G>A	ENSP00000003302:p.Arg187*					USP28_ENST00000260188.5_Nonsense_Mutation_p.R187*|USP28_ENST00000537706.1_Nonsense_Mutation_p.R187*|USP28_ENST00000542033.1_5'UTR|USP28_ENST00000545540.1_Nonsense_Mutation_p.R62*	p.R187*	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	6	627	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	187					B0YJC0|B0YJC1|Q9P213	Nonsense_Mutation	SNP	ENST00000003302.4	37	c.559C>T	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	G	38	7.006134	0.97998	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000545540;ENST00000537706	.	.	.	5.08	5.08	0.68730	.	0.063315	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6665	17.4468	0.87580	0.0:0.0:1.0:0.0	.	.	.	.	X	187;187;62;187	.	ENSP00000003302:R187X	R	-	1	2	USP28	113210243	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.022000	0.70839	2.357000	0.79964	0.460000	0.39030	CGA		0.343	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			16	35	0	0	0	0.004007	0	16	35					A	113705033	G	A	113705033	4	1	86	1	0	0	0	0	0	1	0	0	17055	1066	37	1	2754	1	USP28	11	113705033	Nonsense_Mutation	SNP	G	TCGA-DJ-A1QL-01A-11D-A14W-08	49378406	113705033	21301483	14	1954											
HS3ST4	9951	broad.mit.edu	37	chr16	26147154	26147154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgctggccttcaaaaaccGgaccctcgggctgatcgatg	13	12	1	1			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr16:26147154G>A	ENST00000331351.5	+	2	1348	c.956G>A	c.(955-957)cGg>cAg	p.R319Q	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	319					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TTCAAAAACCGGACCCTCGGG	0.552																																						ENST00000331351.5																			0				breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15						c.(955-957)cGg>cAg		heparan sulfate (glucosamine) 3-O-sulfotransferase 4							175	166	169					16																	26147154		1568	3582	5150	SO:0001583	missense	9951				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr16:26147154G>A	AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"Sulfotransferases, membrane-bound"	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.956G>A	16.37:g.26147154G>A	ENSP00000330606:p.Arg319Gln					HS3ST4_ENST00000475436.1_3'UTR	p.R319Q	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN		GBM - Glioblastoma multiforme(48;0.0988)	2	1348	+			319					Q5QI42|Q8NDC2	Missense_Mutation	SNP	ENST00000331351.5	37	c.956G>A	CCDS53995.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977846	0.74360	.	.	ENSG00000182601	ENST00000331351	T	0.55052	0.54	5.35	5.35	0.76521	Sulfotransferase domain (1);	0.000000	0.64402	U	0.000011	T	0.42154	0.1190	L	0.42686	1.345	0.58432	D	0.999998	P	0.48998	0.918	B	0.32583	0.148	T	0.46076	-0.9217	10	0.38643	T	0.18	.	18.0433	0.89325	0.0:0.0:1.0:0.0	.	319	Q9Y661	HS3S4_HUMAN	Q	319	ENSP00000330606:R319Q	ENSP00000330606:R319Q	R	+	2	0	HS3ST4	26054655	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.823000	0.99369	2.491000	0.84063	0.655000	0.94253	CGG		0.552	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133286.2	NM_006040		81	105	0	0	0	0.00361	0	81	105					A	26147154	G	A	26147154	3	1	86	1	0	0	0	0	1	0	0	0	7367	1116	39	1	962	1	HS3ST4	16	26147154	Missense_Mutation	SNP	G	TCGA-DJ-A1QL-01A-11D-A14W-08		26147154	64207599	15	1955											
MUC16	94025	broad.mit.edu	37	chr19	9070335	9070335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatggcttctgtgtgcgcaGtgtctttgtaagtggtcagt	14	7	3	0			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr19:9070335G>A	ENST00000397910.4	-	3	17314	c.17111C>T	c.(17110-17112)aCt>aTt	p.T5704I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5706	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTGTGCGCAGTGTCTTTGTA	0.502																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(17110-17112)aCt>aTt		mucin 16, cell surface associated							167	163	164					19																	9070335		2093	4212	6305	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9070335G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.17111C>T	19.37:g.9070335G>A	ENSP00000381008:p.Thr5704Ile						p.T5704I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	17314	-			5706			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.17111C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.060	0.196782	0.09599	.	.	ENSG00000181143	ENST00000397910	T	0.27890	1.64	1.54	1.54	0.23209	.	.	.	.	.	T	0.23410	0.0566	N	0.19112	0.55	.	.	.	D	0.62365	0.991	P	0.48840	0.592	T	0.26883	-1.0090	8	0.87932	D	0	.	6.5715	0.22541	0.0:0.0:1.0:0.0	.	5704	B5ME49	.	I	5704	ENSP00000381008:T5704I	ENSP00000381008:T5704I	T	-	2	0	MUC16	8931335	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.347000	0.20014	1.176000	0.42840	0.456000	0.33151	ACT		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		6	70	0	0	0	0.001168	0	6	70					A	9070335	G	A	9070335	3	1	86	1	0	0	0	0	1	0	0	0	9973	1029	36	2	26740	2	MUC16	19	9070335	Missense_Mutation	SNP	G	TCGA-DJ-A1QL-01A-11D-A14W-08		9070335	50058648	16	1956											
PYGB	5834	broad.mit.edu	37	chr20	25257360	25257360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaccatgcggctgtggtccGccaaggctcccaacgacttc	10	16	0	0	rs200914374		TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr20:25257360G>A	ENST00000216962.4	+	6	849	c.739G>A	c.(739-741)Gcc>Acc	p.A247T		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	247					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						GCTGTGGTCCGCCAAGGCTCC	0.617																																						ENST00000216962.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(739-741)Gcc>Acc		phosphorylase, glycogen; brain	Pyridoxal Phosphate(DB00114)	G	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	139	94	109		739	3.5	1.0	20		109	0,8600		0,0,4300	no	missense	PYGB	NM_002862.3	58	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	247/844	25257360	2,13004	2203	4300	6503	SO:0001583	missense	5834				glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	g.chr20:25257360G>A		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"Glycogen phosphorylases"	9723	protein-coding gene	gene with protein product	"glycogen phosphorylase, brain form"	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.739G>A	20.37:g.25257360G>A	ENSP00000216962:p.Ala247Thr						p.A247T	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN			6	849	+			247					Q96AK1|Q9NPX8	Missense_Mutation	SNP	ENST00000216962.4	37	c.739G>A	CCDS13171.1	.	.	.	.	.	.	.	.	.	.	G	31	5.077262	0.94000	4.54E-4	0.0	ENSG00000100994	ENST00000216962	D	0.94862	-3.54	3.49	3.49	0.39957	.	0.000000	0.85682	D	0.000000	D	0.97049	0.9036	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.97802	1.0245	10	0.87932	D	0	-25.5524	15.1631	0.72801	0.0:0.0:1.0:0.0	.	247	P11216	PYGB_HUMAN	T	247	ENSP00000216962:A247T	ENSP00000216962:A247T	A	+	1	0	PYGB	25205360	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	9.492000	0.97957	1.974000	0.57490	0.557000	0.71058	GCC		0.617	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		3	32	0	0	0	0.000248	0	3	32					A	25257360	G	A	25257360	3	1	86	1	0	0	0	0	1	0	0	0	12860	1087	38	1	761	1	PYGB	20	25257360	Missense_Mutation	SNP	G	TCGA-DJ-A1QL-01A-11D-A14W-08		25257360	37768160	17	1957											
SEMG1	6406	broad.mit.edu	37	chr20	43836652	43836652	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agtaaagtacaaacctcactCtgtcctgcgcaccaagacaa	6	13	2	1			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr20:43836652C>T	ENST00000372781.3	+	2	771	c.714C>T	c.(712-714)ctC>ctT	p.L238L	SEMG1_ENST00000244069.6_Silent_p.L238L	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	238	Interaction with EPPIN.|Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AAACCTCACTCTGTCCTGCGC	0.378																																						ENST00000372781.3																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32						c.(712-714)ctC>ctT		semenogelin I							114	99	104					20																	43836652		2203	4300	6503	SO:0001819	synonymous_variant	6406							g.chr20:43836652C>T		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"semen coagulating protein", "cancer/testis antigen 103"	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.714C>T	20.37:g.43836652C>T						SEMG1_ENST00000244069.6_Silent_p.L238L	p.L238L	NM_003007.3	NP_002998.1					2	771	+		Myeloproliferative disorder(115;0.0122)						Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Silent	SNP	ENST00000372781.3	37	c.714C>T	CCDS13345.1																																																																																				0.378	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		6	131	0	0	0	0.001168	0	6	131					T	43836652	C	T	43836652	2	4	86	1	0	0	0	0	0	0	0	1	14044	900	32	2		2	SEMG1	20	43836652	Silent	SNP	C	TCGA-DJ-A1QL-01A-11D-A14W-08	18579292	43836652	19188868	18	1958											
WDTC1	23038	broad.mit.edu	37	chr1	27620562	27620562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgcacaccttctgtgacCggcagaaaccccttccggac	10	15	1	2			TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr1:27620562C>T	ENST00000319394.3	+	8	1247	c.712C>T	c.(712-714)Cgg>Tgg	p.R238W	WDTC1_ENST00000361771.3_Missense_Mutation_p.R238W	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	238					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CTTCTGTGACCGGCAGAAACC	0.547																																						ENST00000319394.3																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21						c.(712-714)Cgg>Tgg		WD and tetratricopeptide repeats 1							84	78	80					1																	27620562		2203	4300	6503	SO:0001583	missense	23038						protein binding	g.chr1:27620562C>T	AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"DDB1 and CUL4 associated factors", "WD repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29175	protein-coding gene	gene with protein product	"adipose homolog (Drosophila)", "DDB1 and CUL4 associated factor 9"					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.712C>T	1.37:g.27620562C>T	ENSP00000317971:p.Arg238Trp					WDTC1_ENST00000361771.3_Missense_Mutation_p.R238W	p.R238W	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)	8	1247	+		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	238					D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Missense_Mutation	SNP	ENST00000319394.3	37	c.712C>T		.	.	.	.	.	.	.	.	.	.	C	17.94	3.512474	0.64522	.	.	ENSG00000142784	ENST00000319394;ENST00000361771	T;T	0.81415	-1.49;-1.49	5.16	4.23	0.50019	WD40 repeat-like-containing domain (1);	0.056459	0.64402	D	0.000002	T	0.73845	0.3639	L	0.46157	1.445	0.58432	D	0.999992	D;D	0.60575	0.979;0.988	B;B	0.40741	0.183;0.339	T	0.74349	-0.3694	10	0.37606	T	0.19	.	14.0717	0.64863	0.1516:0.8484:0.0:0.0	.	238;238	Q8N5D0;Q8N5D0-4	WDTC1_HUMAN;.	W	238	ENSP00000317971:R238W;ENSP00000355317:R238W	ENSP00000317971:R238W	R	+	1	2	WDTC1	27493149	0.985000	0.35326	1.000000	0.80357	0.992000	0.81027	1.439000	0.35013	1.363000	0.46019	0.655000	0.94253	CGG		0.547	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015023		5	62	0	0	0	0.001168	0	5	62					T	27620562	C	T	27620562	3	4	87	1	0	0	0	0	1	0	0	0	17339	643	23	1	738	1	WDTC1	1	27620562	Missense_Mutation	SNP	C	TCGA-DJ-A1QM-01A-11D-A14W-08		27620562	221630059	1	1959											
SLC25A12	8604	broad.mit.edu	37	chr2	172641902	172641902	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caaacgtggctgtggcgagtCtgtatccaccgatgtgatca	12	10	2	1			TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr2:172641902C>T	ENST00000422440.2	-	18	1956	c.1919G>A	c.(1918-1920)aGa>aAa	p.R640K	SLC25A12_ENST00000392592.4_Missense_Mutation_p.R533K	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	640					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	TGTGGCGAGTCTGTATCCACC	0.488																																						ENST00000422440.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23						c.(1918-1920)aGa>aAa		solute carrier family 25 (aspartate/glutamate carrier), member 12	L-Aspartic Acid(DB00128)						180	166	171					2																	172641902		2203	4300	6503	SO:0001583	missense	8604				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding	g.chr2:172641902C>T	Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"Solute carriers", "EF-hand domain containing"	10982	protein-coding gene	gene with protein product		603667	"solute carrier family 25 (mitochondrial carrier, Aralar), member 12"			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.1919G>A	2.37:g.172641902C>T	ENSP00000388658:p.Arg640Lys					SLC25A12_ENST00000392592.4_Missense_Mutation_p.R533K	p.R640K	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		18	1956	-			640					B3KR64|Q96AM8	Missense_Mutation	SNP	ENST00000422440.2	37	c.1919G>A	CCDS33327.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.819125	0.32145	.	.	ENSG00000115840	ENST00000422440;ENST00000392592	T;T	0.78126	-1.15;-1.12	6.02	5.15	0.70609	.	0.044849	0.85682	D	0.000000	T	0.68421	0.2999	L	0.33485	1.01	0.47621	D	0.999472	B;B	0.11235	0.004;0.004	B;B	0.15052	0.012;0.012	T	0.62397	-0.6863	10	0.21540	T	0.41	-17.1071	15.4976	0.75666	0.0:0.9337:0.0:0.0663	.	533;640	B3KR64;O75746	.;CMC1_HUMAN	K	640;533	ENSP00000388658:R640K;ENSP00000376371:R533K	ENSP00000376371:R533K	R	-	2	0	SLC25A12	172350148	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.298000	0.51818	1.548000	0.49413	0.650000	0.86243	AGA		0.488	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2	NM_003705		7	93	0	0	0	0.001984	0	7	93					T	172641902	C	T	172641902	3	4	87	1	0	0	0	0	1	0	0	0	14474	913	32	2	121	2	SLC25A12	2	172641902	Missense_Mutation	SNP	C	TCGA-DJ-A1QM-01A-11D-A14W-08		172641902	70557471	2	1960											
STAB1	23166	broad.mit.edu	37	chr3	52539151	52539151	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccccctctgggacccctgggGatcccaaggtgagccagcat	12	16	1	1			TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr3:52539151G>A	ENST00000321725.6	+	13	1586	c.1510G>A	c.(1510-1512)Gat>Aat	p.D504N		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	504					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GACCCCTGGGGATCCCAAGGT	0.612																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(1510-1512)Gat>Aat		stabilin 1							59	67	64					3																	52539151		2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52539151G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.1510G>A	3.37:g.52539151G>A	ENSP00000312946:p.Asp504Asn						p.D504N	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	13	1586	+			504					A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.1510G>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	8.985	0.976323	0.18736	.	.	ENSG00000010327	ENST00000321725	D	0.85013	-1.93	5.46	5.46	0.80206	FAS1 domain (1);	0.237542	0.36134	N	0.002775	T	0.70876	0.3274	N	0.17082	0.46	0.35803	D	0.823255	B;B	0.26902	0.163;0.009	B;B	0.19666	0.026;0.016	T	0.68965	-0.5270	10	0.02654	T	1	.	14.8512	0.70297	0.0:0.0:1.0:0.0	.	504;504	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	N	504	ENSP00000312946:D504N	ENSP00000312946:D504N	D	+	1	0	STAB1	52514191	0.925000	0.31364	0.977000	0.42913	0.686000	0.39977	1.690000	0.37711	2.582000	0.87167	0.650000	0.86243	GAT		0.612	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		7	82	0	0	0	0.001984	0	7	82					A	52539151	G	A	52539151	3	1	87	1	0	0	0	0	1	0	0	0	15236	1174	41	2	1560	2	STAB1	3	52539151	Missense_Mutation	SNP	G	TCGA-DJ-A1QM-01A-11D-A14W-08		52539151	145483279	3	1961											
PDE12	201626	broad.mit.edu	37	chr3	57543396	57543396	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcgcaggagaaggtgctccaGagatcttctgttcttcaggt	13	9	4	2	rs140975906		TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr3:57543396G>A	ENST00000311180.8	+	1	1393	c.1290G>A	c.(1288-1290)caG>caA	p.Q430Q	PDE12_ENST00000487257.1_Silent_p.Q430Q	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	430					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		AGGTGCTCCAGAGATCTTCTG	0.498																																					Colon(125;308 1634 19198 50622 50717)	ENST00000311180.8																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(1288-1290)caG>caA		phosphodiesterase 12							54	56	56					3																	57543396		2203	4300	6503	SO:0001819	synonymous_variant	201626						hydrolase activity	g.chr3:57543396G>A	AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"2'-phosphodiesterase"					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.1290G>A	3.37:g.57543396G>A						PDE12_ENST00000487257.1_Silent_p.Q430Q	p.Q430Q	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)	1	1393	+			430					B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Silent	SNP	ENST00000311180.8	37	c.1290G>A	CCDS33772.1																																																																																				0.498	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351440.2	NM_177966		4	52	0	0	0	0.000602	0	4	52					A	57543396	G	A	57543396	2	1	87	1	0	0	0	0	0	0	0	1	11632	933	33	2		2	PDE12	3	57543396	Silent	SNP	G	TCGA-DJ-A1QM-01A-11D-A14W-08	5004245	57543396	140479034	4	1962											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		10	76	0	0	0	0.008291	0	10	76					T	140453136	A	T	140453136	3	4	87	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A1QM-01A-11D-A14W-08		140453136	18685527	5	1963											
SORBS3	10174	broad.mit.edu	37	chr8	22428458	22428458	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctgatccgcaaggtgaacgaGaactggtacgagggacgcat	14	9	0	3			TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr8:22428458G>C	ENST00000240123.7	+	18	1850	c.1467G>C	c.(1465-1467)gaG>gaC	p.E489D	SORBS3_ENST00000428103.1_Missense_Mutation_p.E147D|SORBS3_ENST00000523740.1_3'UTR	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	489	Binds to vinculin.|SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|muscle contraction (GO:0006936)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of stress fiber assembly (GO:0051496)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		AGGTGAACGAGAACTGGTACG	0.627																																						ENST00000240123.7																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18						c.(1465-1467)gaG>gaC		sorbin and SH3 domain containing 3							100	77	85					8																	22428458		2203	4300	6503	SO:0001583	missense	10174				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding	g.chr8:22428458G>C		CCDS6031.1	8p21.3	2008-02-05			ENSG00000120896	ENSG00000120896			30907	protein-coding gene	gene with protein product		610795				9885244, 12510380	Standard	NM_001018003		Approved	SCAM-1, SH3D4, vinexin	uc003xbv.3	O60504	OTTHUMG00000131728	ENST00000240123.7:c.1467G>C	8.37:g.22428458G>C	ENSP00000240123:p.Glu489Asp					SORBS3_ENST00000428103.1_Missense_Mutation_p.E147D|SORBS3_ENST00000523740.1_3'UTR	p.E489D	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	18	1850	+		Prostate(55;0.0421)|Breast(100;0.102)	489			Binds to vinculin.|SH3 2.		Q5BJE4|Q6NX54|Q96FY4|Q9UQE4	Missense_Mutation	SNP	ENST00000240123.7	37	c.1467G>C	CCDS6031.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	14.06|14.06|14.06	2.422841|2.422841|2.422841	0.43020|0.43020|0.43020	.|.|.	.|.|.	ENSG00000120896|ENSG00000120896|ENSG00000120896	ENST00000240123;ENST00000523900;ENST00000428103;ENST00000523965;ENST00000523348|ENST00000521554|ENST00000517962	T;T;T;T;T|T|.	0.26957|0.32515|.	1.7;1.7;1.7;1.7;1.7|1.45|.	5.39|5.39|5.39	3.22|3.22|3.22	0.36961|0.36961|0.36961	Src homology-3 domain (4);|.|.	0.147133|0.147133|.	0.30969|0.30969|.	N|N|.	0.008518|0.008518|.	T|T|T	0.20251|0.20251|0.20251	0.0487|0.0487|0.0487	N|N|N	0.11870|0.11870|0.11870	0.19|0.19|0.19	0.28337|0.28337|0.28337	N|N|N	0.92152|0.92152|0.92152	B|.|.	0.24651|.|.	0.108|.|.	B|.|.	0.28849|.|.	0.095|.|.	T|T|T	0.18147|0.18147|0.18147	-1.0346|-1.0346|-1.0346	10|8|5	0.52906|0.19147|.	T|T|.	0.07|0.46|.	-26.7168|-26.7168|-26.7168	7.1055|7.1055|7.1055	0.25360|0.25360|0.25360	0.2945:0.0:0.7055:0.0|0.2945:0.0:0.7055:0.0|0.2945:0.0:0.7055:0.0	.|.|.	489|.|.	O60504|.|.	VINEX_HUMAN|.|.	D|Q|T	489;147;147;147;100|161|1	ENSP00000240123:E489D;ENSP00000431128:E147D;ENSP00000408476:E147D;ENSP00000429764:E147D;ENSP00000428678:E100D|ENSP00000429058:E161Q|.	ENSP00000240123:E489D|ENSP00000429058:E161Q|.	E|E|R	+|+|+	3|1|2	2|0|0	SORBS3|SORBS3|SORBS3	22484403|22484403|22484403	0.988000|0.988000|0.988000	0.35896|0.35896|0.35896	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.989000|0.989000|0.989000	0.77384|0.77384|0.77384	0.095000|0.095000|0.095000	0.15127|0.15127|0.15127	1.234000|1.234000|1.234000	0.43709|0.43709|0.43709	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAG|GAA|AGA		0.627	SORBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254647.3	NM_005775		8	55	0	0	0	0.00308	0	8	55					C	22428458	G	C	22428458	3	2	87	1	0	0	0	0	1	0	0	0	14929	933	33	4	1533	4	SORBS3	8	22428458	Missense_Mutation	SNP	G	TCGA-DJ-A1QM-01A-11D-A14W-08		22428458	123935564	6	1964											
ZFAT	57623	broad.mit.edu	37	chr8	135649756	135649756	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acgataatgcagatgtgcttCcgcagctggcgcgtgttgga	14	9	0	1			TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr8:135649756C>T	ENST00000377838.3	-	3	570	c.396G>A	c.(394-396)cgG>cgA	p.R132R	ZFAT_ENST00000520727.1_Silent_p.R120R|ZFAT_ENST00000429442.2_Silent_p.R120R|ZFAT_ENST00000520214.1_Silent_p.R120R|ZFAT_ENST00000520356.1_Silent_p.R120R|ZFAT_ENST00000523399.1_Silent_p.R132R	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	132					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|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)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AGATGTGCTTCCGCAGCTGGC	0.542																																						ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(358-360)cgG>cgA		zinc finger and AT hook domain containing							90	96	94					8																	135649756		2120	4230	6350	SO:0001819	synonymous_variant	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135649756C>T	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.396G>A	8.37:g.135649756C>T						ZFAT_ENST00000520214.1_Silent_p.R120R|ZFAT_ENST00000429442.2_Silent_p.R120R|ZFAT_ENST00000377838.3_Silent_p.R132R|ZFAT_ENST00000520356.1_Silent_p.R120R|ZFAT_ENST00000523399.1_Silent_p.R132R	p.R120R	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		4	659	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		132					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Silent	SNP	ENST00000377838.3	37	c.360G>A	CCDS47924.1																																																																																				0.542	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		4	50	0	0	0	0.000248	0	4	50					T	135649756	C	T	135649756	2	4	87	1	0	0	0	0	0	0	0	1	17629	842	30	2		2	ZFAT	8	135649756	Silent	SNP	C	TCGA-DJ-A1QM-01A-11D-A14W-08	113221298	135649756	10714266	7	1965											
OGDHL	55753	broad.mit.edu	37	chr10	50954867	50954867	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtcgctcaggtggaaggtctCatataccacgccctggccag	12	13	2	0			TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr10:50954867C>G	ENST00000374103.4	-	10	1310	c.1225G>C	c.(1225-1227)Gag>Cag	p.E409Q	OGDHL_ENST00000419399.1_Missense_Mutation_p.E352Q|OGDHL_ENST00000432695.1_Missense_Mutation_p.E200Q	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	409					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TGGAAGGTCTCATATACCACG	0.637																																						ENST00000374103.4																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						c.(1225-1227)Gag>Cag		oxoglutarate dehydrogenase-like							142	98	113					10																	50954867		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50954867C>G	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1225G>C	10.37:g.50954867C>G	ENSP00000363216:p.Glu409Gln					OGDHL_ENST00000432695.1_Missense_Mutation_p.E200Q|OGDHL_ENST00000419399.1_Missense_Mutation_p.E352Q	p.E409Q	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN			10	1310	-			409					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.1225G>C	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	C	34	5.302066	0.95601	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	T;T;D	0.97870	1.44;1.44;-4.58	5.76	5.76	0.90799	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.99444	0.9803	H	0.99582	4.64	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	0.98036	1.0379	10	0.87932	D	0	.	19.9576	0.97228	0.0:1.0:0.0:0.0	.	352;200;409	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	Q	409;352;200	ENSP00000363216:E409Q;ENSP00000401356:E352Q;ENSP00000390240:E200Q	ENSP00000363216:E409Q	E	-	1	0	OGDHL	50624873	1.000000	0.71417	0.999000	0.59377	0.855000	0.48748	7.776000	0.85560	2.736000	0.93811	0.655000	0.94253	GAG		0.637	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		4	47	0	0	0	0.000248	0	4	47					G	50954867	C	G	50954867	3	3	87	1	0	0	0	0	1	0	0	0	10840	835	29	4	1863	4	OGDHL	10	50954867	Missense_Mutation	SNP	C	TCGA-DJ-A1QM-01A-11D-A14W-08		50954867	84579880	8	1966											
PCSK7	9159	broad.mit.edu	37	chr11	117090319	117090319	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tatctcacccgggtggctgtGaagacaatgatgtgctggac	13	9	1	3			TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr11:117090319G>A	ENST00000320934.3	-	10	1941	c.1311C>T	c.(1309-1311)ttC>ttT	p.F437F	PCSK7_ENST00000540028.1_Silent_p.F78F	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	437	Peptidase S8.				peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GGGTGGCTGTGAAGACAATGA	0.592			T	IGH@	MLCLS																																	ENST00000320934.3				Dom	yes		11	11q23.3	9159	T	proprotein convertase subtilisin/kexin type 7			L	IGH@		MLCLS		0				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16						c.(1309-1311)ttC>ttT		proprotein convertase subtilisin/kexin type 7							60	46	51					11																	117090319		2201	4296	6497	SO:0001819	synonymous_variant	9159				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity	g.chr11:117090319G>A	U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.1311C>T	11.37:g.117090319G>A						PCSK7_ENST00000540028.1_Silent_p.F78F	p.F437F	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)	10	1941	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	437			Catalytic.		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Silent	SNP	ENST00000320934.3	37	c.1311C>T	CCDS8382.1																																																																																				0.592	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	NM_004716		3	28	0	0	0	0.004672	0	3	28					A	117090319	G	A	117090319	2	1	87	1	0	0	0	0	0	0	0	1	11605	1281	45	2		2	PCSK7	11	117090319	Silent	SNP	G	TCGA-DJ-A1QM-01A-11D-A14W-08		117090319	17916197	9	1967											
ABCA3	21	broad.mit.edu	37	chr16	2373655	2373655	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttgggtccacatgtaatttCtccgtgtgtaactgaaccgt	9	9	1	1			TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr16:2373655C>T	ENST00000301732.5	-	7	1182	c.482G>A	c.(481-483)aGa>aAa	p.R161K	ABCA3_ENST00000567910.1_Missense_Mutation_p.R161K|ABCA3_ENST00000382381.3_Missense_Mutation_p.R161K	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	161					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	CATGTAATTTCTCCGTGTGTA	0.493																																						ENST00000301732.5																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(481-483)aGa>aAa		ATP-binding cassette, sub-family A (ABC1), member 3							248	278	268					16																	2373655		2198	4300	6498	SO:0001583	missense	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2373655C>T	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.482G>A	16.37:g.2373655C>T	ENSP00000301732:p.Arg161Lys					ABCA3_ENST00000382381.3_Missense_Mutation_p.R161K|ABCA3_ENST00000567910.1_Missense_Mutation_p.R161K	p.R161K	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			7	1182	-		Ovarian(90;0.17)	161					B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.482G>A	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.159023	0.38119	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.97232	-4.3	5.43	4.41	0.53225	.	0.105632	0.64402	D	0.000006	D	0.96090	0.8726	M	0.63169	1.94	0.36681	D	0.879056	B;B;B;B	0.27316	0.071;0.045;0.005;0.175	B;B;B;B	0.37304	0.168;0.072;0.013;0.246	D	0.95548	0.8618	10	0.38643	T	0.18	.	13.1742	0.59617	0.0:0.9118:0.0:0.0882	.	161;223;161;161	A7MBM9;Q4LE27;Q6P5P9;Q99758	.;.;.;ABCA3_HUMAN	K	161;223	ENSP00000301732:R161K	ENSP00000301732:R161K	R	-	2	0	ABCA3	2313656	0.790000	0.28787	0.447000	0.26932	0.726000	0.41606	3.375000	0.52410	2.824000	0.97209	0.655000	0.94253	AGA		0.493	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		11	422	0	0	0	0.001368	0	11	422					T	2373655	C	T	2373655	3	4	87	1	0	0	0	0	1	0	0	0	33	913	32	2	4740	2	ABCA3	16	2373655	Missense_Mutation	SNP	C	TCGA-DJ-A1QM-01A-11D-A14W-08		2373655	87981098	10	1968											
C17orf46	124783	broad.mit.edu	37	chr17	43331805	43331805	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ctgtctagtcatttctctggGattgtgggggctgacagctt	13	8	3	1			TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr17:43331805G>C	ENST00000331780.4	-	5	1238	c.1143C>G	c.(1141-1143)atC>atG	p.I381M	MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|SPATA32_ENST00000543122.1_Missense_Mutation_p.I360M|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA	NM_152343.2	NP_689556.2	Q96LK8	SPT32_HUMAN	spermatogenesis associated 32	381					spermatogenesis (GO:0007283)	perinuclear region of cytoplasm (GO:0048471)											ATTTCTCTGGGATTGTGGGGG	0.507																																						ENST00000543122.1																			0											c.(1078-1080)atC>atG		spermatogenesis associated 32							137	145	142					17																	43331805		2203	4300	6503	SO:0001583	missense	124783							g.chr17:43331805G>C	AK058143	CCDS32669.1	17q21.31	2013-10-11	2012-10-08	2012-10-08	ENSG00000184361	ENSG00000184361			26349	protein-coding gene	gene with protein product	"acrosome expressed 2"		"chromosome 17 open reading frame 46", "testis expressed 34"	C17orf46, TEX34		18621766	Standard	NM_152343		Approved	FLJ25414, AEP2, VAD1.2	uc002iis.1	Q96LK8	OTTHUMG00000180363	ENST00000331780.4:c.1143C>G	17.37:g.43331805G>C	ENSP00000331532:p.Ile381Met					MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|SPATA32_ENST00000331780.4_Missense_Mutation_p.I381M|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA	p.I360M							7	1861	-								Q7Z4U1|Q8N6V6	Missense_Mutation	SNP	ENST00000331780.4	37	c.1080C>G	CCDS32669.1	.	.	.	.	.	.	.	.	.	.	G	9.662	1.144319	0.21205	.	.	ENSG00000184361	ENST00000331780;ENST00000543122	T;T	0.44083	0.93;0.93	4.77	2.79	0.32731	.	0.924044	0.08992	N	0.864247	T	0.22742	0.0549	N	0.08118	0	0.19300	N	0.999978	P	0.36249	0.545	B	0.34931	0.192	T	0.13522	-1.0506	10	0.46703	T	0.11	-7.4376	6.8899	0.24224	0.2067:0.0:0.7933:0.0	.	381	Q96LK8	CQ046_HUMAN	M	381;360	ENSP00000331532:I381M;ENSP00000442724:I360M	ENSP00000331532:I381M	I	-	3	3	C17orf46	40687588	0.988000	0.35896	0.708000	0.30435	0.499000	0.33736	1.854000	0.39368	0.610000	0.30035	0.609000	0.83330	ATC		0.507	SPATA32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450946.1	NM_152343		8	140	0	0	0	0.004482	0	8	140					C	43331805	G	C	43331805	3	2	87	1	0	0	0	0	1	0	0	0	1857	1164	41	4	15	4	C17orf46	17	43331805	Missense_Mutation	SNP	G	TCGA-DJ-A1QM-01A-11D-A14W-08		43331805	37863405	11	1969											
CTPS2	56474	broad.mit.edu	37	chrX	16720901	16720901	+	Missense_Mutation	SNP	T	T	C													tgccagcatcgatgttaataTaggggtcgatttttatggca							TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chrX:16720901T>C	ENST00000443824.1	-	2	868	c.125A>G	c.(124-126)tAt>tGt	p.Y42C	CTPS2_ENST00000359276.4_Missense_Mutation_p.Y42C|CTPS2_ENST00000380241.3_Missense_Mutation_p.Y42C	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	42					'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					GATGTTAATATAGGGGTCGAT	0.448																																						ENST00000443824.1																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(124-126)tAt>tGt		CTP synthase 2							228	193	205					X																	16720901		2203	4300	6503	SO:0001583	missense	56474				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity	g.chrX:16720901T>C	AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	"CTP synthase II"			10899599	Standard	NM_001144002		Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.125A>G	X.37:g.16720901T>C	ENSP00000401264:p.Tyr42Cys					CTPS2_ENST00000359276.4_Missense_Mutation_p.Y42C|CTPS2_ENST00000380241.3_Missense_Mutation_p.Y42C	p.Y42C	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN			2	868	-	Hepatocellular(33;0.0997)		42					B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Missense_Mutation	SNP	ENST00000443824.1	37	c.125A>G	CCDS14175.1	.	.	.	.	.	.	.	.	.	.	T	14.72	2.618590	0.46736	.	.	ENSG00000047230	ENST00000443824;ENST00000380241;ENST00000359276	T;T;T	0.65732	-0.17;-0.17;-0.17	5.33	5.33	0.75918	CTP synthase, N-terminal (1);	0.000000	0.56097	D	0.000040	D	0.87845	0.6280	H	0.99143	4.445	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92725	0.6195	10	0.87932	D	0	-12.5928	14.4973	0.67698	0.0:0.0:0.0:1.0	.	42	Q9NRF8	PYRG2_HUMAN	C	42	ENSP00000401264:Y42C;ENSP00000369590:Y42C;ENSP00000352222:Y42C	ENSP00000352222:Y42C	Y	-	2	0	CTPS2	16630822	1.000000	0.71417	0.121000	0.21740	0.071000	0.16799	5.909000	0.69923	1.802000	0.52723	0.427000	0.28365	TAT		0.448	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055906.1	NM_019857		6	74	0	0	0	0.001168	0	6	74					C	16720901	T	C	16720901	3	2	87	1	0	0	0	0	1	0	0	0	4023	1406	49	3	1703	3	CTPS2	23	16720901	Missense_Mutation	SNP	T	TCGA-DJ-A1QM-01A-11D-A14W-08		16720901	138549659	12	1970	10	2									
CTPS2	56474	broad.mit.edu	37	chrX	16720909	16720909	+	Silent	SNP	G	G	A													tcgatgttaatataggggtcGatttttatggcagtaactcg							TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chrX:16720909G>A	ENST00000443824.1	-	2	860	c.117C>T	c.(115-117)atC>atT	p.I39I	CTPS2_ENST00000359276.4_Silent_p.I39I|CTPS2_ENST00000380241.3_Silent_p.I39I	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	39					'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					TATAGGGGTCGATTTTTATGG	0.458													G|||	1	0.000264901	0	0	3775	,	,		13391	0		0	False		,,,				2504	0.001					ENST00000443824.1																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(115-117)atC>atT		CTP synthase 2							224	190	201					X																	16720909		2203	4300	6503	SO:0001819	synonymous_variant	56474				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity	g.chrX:16720909G>A	AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	"CTP synthase II"			10899599	Standard	NM_001144002		Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.117C>T	X.37:g.16720909G>A						CTPS2_ENST00000359276.4_Silent_p.I39I|CTPS2_ENST00000380241.3_Silent_p.I39I	p.I39I	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN			2	860	-	Hepatocellular(33;0.0997)		39					B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Silent	SNP	ENST00000443824.1	37	c.117C>T	CCDS14175.1																																																																																				0.458	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055906.1	NM_019857		5	71	0	0	0	0.000602	0	5	71					A	16720909	G	A	16720909	2	1	87	1	0	0	0	0	0	0	0	1	4023	1048	37	1		1	CTPS2	23	16720909	Silent	SNP	G	TCGA-DJ-A1QM-01A-11D-A14W-08	8	16720909	138549651	13	1971	10	2									
C1orf113	79729	broad.mit.edu	37	chr1	36786296	36786296	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgctcccctcgctggtcccgCaaaactacacggaaaacaag	8	16	0	0	rs577719961		TCGA-DJ-A1QN-01A-11D-A14W-08	TCGA-DJ-A1QN-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34a8702a-2fda-435f-be31-da579533f3a1	04e153bc-3c9d-4cd4-bf18-cf74c14c1352	g.chr1:36786296C>A	ENST00000426732.2	+	13	1969	c.1684C>A	c.(1684-1686)Caa>Aaa	p.Q562K	SH3D21_ENST00000474766.1_3'UTR|SH3D21_ENST00000453908.2_Missense_Mutation_p.Q678K|EVA1B_ENST00000490466.1_5'Flank|SH3D21_ENST00000312808.4_Missense_Mutation_p.Q324K|SH3D21_ENST00000505871.1_Missense_Mutation_p.Q567K			A4FU49	SH321_HUMAN	SH3 domain containing 21	562						extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						GCTGGTCCCGCAAAACTACAC	0.577																																						ENST00000453908.2																			0				endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						c.(2032-2034)Caa>Aaa		SH3 domain containing 21							48	48	48					1																	36786296		2198	4291	6489	SO:0001583	missense	79729							g.chr1:36786296C>A	AK056459	CCDS30674.1, CCDS30674.2	1p34.3	2011-02-21	2011-02-21	2011-02-21	ENSG00000214193	ENSG00000214193			26236	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 113"	C1orf113		12477932	Standard	NM_024676		Approved	FLJ22938	uc010oia.1	A4FU49	OTTHUMG00000007868	ENST00000426732.2:c.1684C>A	1.37:g.36786296C>A	ENSP00000408613:p.Gln562Lys					SH3D21_ENST00000312808.4_Missense_Mutation_p.Q324K|SH3D21_ENST00000474766.1_3'UTR|SH3D21_ENST00000505871.1_Missense_Mutation_p.Q567K|SH3D21_ENST00000426732.2_Missense_Mutation_p.Q562K	p.Q678K	NM_001162530.1	NP_001156002.1	A4FU49	SH321_HUMAN			14	2060	+			562					B4DLI6|D3DPS6|J3KQM5|Q5VTK7|Q86XZ6|Q8N445|Q96DN4|Q9H5W5	Missense_Mutation	SNP	ENST00000426732.2	37	c.2032C>A		.	.	.	.	.	.	.	.	.	.	C	15.41	2.824562	0.50739	.	.	ENSG00000214193	ENST00000453908;ENST00000426732;ENST00000312808;ENST00000505871	T;T;T;T	0.48522	1.29;1.71;0.81;1.74	3.19	3.19	0.36642	.	14.314200	0.01677	U	0.025930	T	0.46852	0.1414	L	0.43152	1.355	0.09310	N	1	P;P	0.45474	0.859;0.779	P;B	0.44394	0.448;0.262	T	0.37865	-0.9687	10	0.18710	T	0.47	.	10.1267	0.42654	0.0:1.0:0.0:0.0	.	567;562	A4FU49-3;A4FU49	.;SH321_HUMAN	K	678;562;324;567	ENSP00000403476:Q678K;ENSP00000408613:Q562K;ENSP00000321936:Q324K;ENSP00000421294:Q567K	ENSP00000321936:Q324K	Q	+	1	0	SH3D21	36558883	0.106000	0.21978	0.029000	0.17559	0.002000	0.02628	1.210000	0.32370	2.082000	0.62665	0.462000	0.41574	CAA		0.577	SH3D21-202	KNOWN	basic	protein_coding	protein_coding		NM_024676		3	39	1	0	0.004672	0.004672	0.00676634	3	39					A	36786296	C	A	36786296	3	1	88	1	0	0	0	0	1	0	0	0	1986	711	25	4	2086	4	C1orf113	1	36786296	Missense_Mutation	SNP	C	TCGA-DJ-A1QN-01A-11D-A14W-08		36786296	212464325	1	1972											
PREB	10113	broad.mit.edu	37	chr2	27357185	27357185	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttatgcctgtcttggcggcGcctcctccgcccgcagcgat	11	16	1	0			TCGA-DJ-A1QN-01A-11D-A14W-08	TCGA-DJ-A1QN-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34a8702a-2fda-435f-be31-da579533f3a1	04e153bc-3c9d-4cd4-bf18-cf74c14c1352	g.chr2:27357185G>A	ENST00000260643.2	-	1	358	c.105C>T	c.(103-105)ggC>ggT	p.G35G	PREB_ENST00000416802.1_5'UTR|PREB_ENST00000406567.3_Silent_p.G35G	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	35					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTGGCGGCGCCTCCTCCGC	0.711																																						ENST00000260643.2																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						c.(103-105)ggC>ggT		prolactin regulatory element binding							20	22	22					2																	27357185		2201	4300	6501	SO:0001819	synonymous_variant	10113				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding	g.chr2:27357185G>A		CCDS1738.1	2p23	2013-01-10			ENSG00000138073	ENSG00000138073		"WD repeat domain containing"	9356	protein-coding gene	gene with protein product		606395				10194769, 12735795	Standard	NM_013388		Approved	SEC12	uc002rix.1	Q9HCU5	OTTHUMG00000097076	ENST00000260643.2:c.105C>T	2.37:g.27357185G>A						PREB_ENST00000406567.3_Silent_p.G35G|PREB_ENST00000416802.1_5'UTR	p.G35G	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN			1	358	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		35					Q53SZ8|Q9UH94	Silent	SNP	ENST00000260643.2	37	c.105C>T	CCDS1738.1																																																																																				0.711	PREB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214195.1	NM_013388		3	15	0	0	0	0.000248	0	3	15					A	27357185	G	A	27357185	2	1	88	1	0	0	0	0	0	0	0	1	12470	1074	38	1		1	PREB	2	27357185	Silent	SNP	G	TCGA-DJ-A1QN-01A-11D-A14W-08		27357185	215842188	2	1973											
AUP1	165545	broad.mit.edu	37	chr2	74754147	74754147	+	5'Flank	DEL	G	G	-													ggaagacttggcaaatgttaGggctgttggctgaggggtca							TCGA-DJ-A1QN-01A-11D-A14W-08	TCGA-DJ-A1QN-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34a8702a-2fda-435f-be31-da579533f3a1	04e153bc-3c9d-4cd4-bf18-cf74c14c1352	g.chr2:74754147delG	ENST00000404568.3	-	0	0				HTRA2_ENST00000258080.3_5'Flank|DQX1_ENST00000495597.1_5'Flank|HTRA2_ENST00000352222.3_5'Flank|DQX1_ENST00000393951.2_5'Flank|AUP1_ENST00000377526.3_Frame_Shift_Del_p.L373fs	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1							nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GCAAATGTTAGGGCTGTTGGC	0.542																																						ENST00000377526.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						c.(1117-1119)tafs		ancient ubiquitous protein 1							49	52	51					2																	74754147		1954	4143	6097	SO:0001631	upstream_gene_variant	550					endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding	g.chr2:74754147delG	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"DEAQ box polypeptide 1 (RNA-dependent ATPase)"				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965		2.37:g.74754147delG	Exception_encountered						p.L373fs	NM_181575.3	NP_853553.1	Q9Y679	AUP1_HUMAN			11	1426	-			439			CUE.		Q6B017|Q8NAM8	Frame_Shift_Del	DEL	ENST00000404568.3	37	c.1117delC	CCDS1949.2																																																																																				0.542	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		8	73						8	73	---	---	---	---	-	74754147	G	-	74754147	6	5	88	0	1	1	0	1	0	0	0	0	1220	991	35	0		0	AUP1	2	74754147	5'Flank	DEL	G	TCGA-DJ-A1QN-01A-11D-A14W-08	47396962	74754147	168445226	3	1974											
FGA	2243	broad.mit.edu	37	chr4	155505289	155505289	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcagcctattgggtcacaAggggcctaattttcatgcga	10	10	3	0			TCGA-DJ-A1QN-01A-11D-A14W-08	TCGA-DJ-A1QN-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34a8702a-2fda-435f-be31-da579533f3a1	04e153bc-3c9d-4cd4-bf18-cf74c14c1352	g.chr4:155505289A>G	ENST00000302053.3	-	6	2666	c.2588T>C	c.(2587-2589)cTt>cCt	p.L863P		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	863	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TTGGGTCACAAGGGGCCTAAT	0.448																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(2587-2589)cTt>cCt		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						80	85	83					4																	155505289		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155505289A>G		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"Fibrinogen C domain containing", "Endogenous ligands"	3661	protein-coding gene	gene with protein product		134820	"fibrinogen, A alpha polypeptide"				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.2588T>C	4.37:g.155505289A>G	ENSP00000306361:p.Leu863Pro						p.L863P	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			6	2666	-	all_hematologic(180;0.215)	Renal(120;0.0458)	863			Fibrinogen C-terminal.		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.2588T>C	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	A	8.431	0.848654	0.17034	.	.	ENSG00000171560	ENST00000302053	D	0.97352	-4.35	5.32	4.14	0.48551	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	0.291777	0.32868	N	0.005542	D	0.97526	0.9190	M	0.64170	1.965	0.24734	N	0.99308	D	0.65815	0.995	D	0.66716	0.946	D	0.93344	0.6712	10	0.62326	D	0.03	.	11.2584	0.49067	0.9281:0.0:0.0719:0.0	.	863	P02671	FIBA_HUMAN	P	863	ENSP00000306361:L863P	ENSP00000306361:L863P	L	-	2	0	FGA	155724739	0.010000	0.17322	0.008000	0.14137	0.107000	0.19398	2.555000	0.45854	0.872000	0.35775	-0.389000	0.06534	CTT		0.448	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		3	100	0	0	0	0.004672	0	3	100					G	155505289	A	G	155505289	3	3	88	1	0	0	0	0	1	0	0	0	5830	72	3	3	16	3	FGA	4	155505289	Missense_Mutation	SNP	A	TCGA-DJ-A1QN-01A-11D-A14W-08		155505289	35648987	4	1975											
HLA-E	3133	broad.mit.edu	37	chr6	30459066	30459066	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acacggagctcgtggagaccAggcctgcaggggatggaacc	16	11	0	1			TCGA-DJ-A1QN-01A-11D-A14W-08	TCGA-DJ-A1QN-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34a8702a-2fda-435f-be31-da579533f3a1	04e153bc-3c9d-4cd4-bf18-cf74c14c1352	g.chr6:30459066A>G	ENST00000376630.4	+	4	828	c.763A>G	c.(763-765)Agg>Ggg	p.R255G		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	255	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of endogenous peptide antigen via MHC class Ib (GO:0002476)|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)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protection from natural killer cell mediated cytotoxicity (GO:0042270)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						CGTGGAGACCAGGCCTGCAGG	0.632																																						ENST00000376630.4																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						c.(763-765)Agg>Ggg		major histocompatibility complex, class I, E							105	96	99					6																	30459066		1511	2708	4219	SO:0001583	missense	3133				antigen processing and presentation of peptide antigen via MHC class I|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.chr6:30459066A>G	M20022	CCDS34379.1	6p21.3	2013-01-11			ENSG00000204592	ENSG00000204592		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4962	protein-coding gene	gene with protein product		143010				3131426	Standard	NM_005516		Approved		uc003nqg.3	P13747	OTTHUMG00000031155	ENST00000376630.4:c.763A>G	6.37:g.30459066A>G	ENSP00000365817:p.Arg255Gly						p.R255G	NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN			4	828	+			255			Alpha-3.|Ig-like C1-type.		Q30169|Q9BT83|Q9GIY7|Q9GIY8	Missense_Mutation	SNP	ENST00000376630.4	37	c.763A>G	CCDS34379.1	.	.	.	.	.	.	.	.	.	.	.	12.72	2.021533	0.35701	.	.	ENSG00000204592	ENST00000376630	T	0.14640	2.49	1.67	1.67	0.24075	.	0.154843	0.28098	U	0.016607	T	0.27454	0.0674	M	0.93462	3.42	0.24514	N	0.994192	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.03175	-1.1064	10	0.87932	D	0	.	5.384	0.16208	1.0:0.0:0.0:0.0	.	296;255	E7ENN9;Q6DU44	.;.	G	255	ENSP00000365817:R255G	ENSP00000365817:R255G	R	+	1	2	HLA-E	30567045	0.207000	0.23482	1.000000	0.80357	0.272000	0.26649	0.318000	0.19504	1.016000	0.39470	0.379000	0.24179	AGG		0.632	HLA-E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076282.2	NM_005516		3	89	0	0	0	0.004672	0	3	89					G	30459066	A	G	30459066	3	3	88	1	0	0	0	0	1	0	0	0	7210	179	7	3	777	3	HLA-E	6	30459066	Missense_Mutation	SNP	A	TCGA-DJ-A1QN-01A-11D-A14W-08		30459066	140656001	5	1976											
VPS52	6293	broad.mit.edu	37	chr6	33235075	33235075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaatggtgttcctgctgcGgagcgatggctttgagaaga	15	6	0	2			TCGA-DJ-A1QN-01A-11D-A14W-08	TCGA-DJ-A1QN-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34a8702a-2fda-435f-be31-da579533f3a1	04e153bc-3c9d-4cd4-bf18-cf74c14c1352	g.chr6:33235075G>A	ENST00000445902.2	-	11	1233	c.1015C>T	c.(1015-1017)Cgc>Tgc	p.R339C	VPS52_ENST00000478934.1_Intron|VPS52_ENST00000436044.2_Missense_Mutation_p.R214C|VPS52_ENST00000482399.1_3'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	339					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TTCCTGCTGCGGAGCGATGGC	0.567																																						ENST00000445902.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1015-1017)Cgc>Tgc		vacuolar protein sorting 52 homolog (S. cerevisiae)							85	79	81					6																	33235075		2203	4300	6503	SO:0001583	missense	6293				protein transport	endosome membrane|Golgi apparatus		g.chr6:33235075G>A	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"SAC2 suppressor of actin mutations 2-like (yeast)", "vacuolar protein sorting 52 (yeast)"	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.1015C>T	6.37:g.33235075G>A	ENSP00000409952:p.Arg339Cys					VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_Intron|VPS52_ENST00000436044.2_Missense_Mutation_p.R214C	p.R339C	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN			11	1233	-			339					A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Missense_Mutation	SNP	ENST00000445902.2	37	c.1015C>T	CCDS4770.2	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401678	0.83120	.	.	ENSG00000223501	ENST00000445902;ENST00000418054;ENST00000436044	.	.	.	5.3	5.3	0.74995	.	0.114752	0.64402	D	0.000015	T	0.70413	0.3221	L	0.58810	1.83	0.58432	D	0.999996	D	0.89917	1.0	D	0.65874	0.939	T	0.70472	-0.4862	9	0.59425	D	0.04	-13.0165	16.8656	0.86028	0.0:0.0:1.0:0.0	.	339	Q8N1B4	VPS52_HUMAN	C	339;317;214	.	ENSP00000414785:R317C	R	-	1	0	VPS52	33343053	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.709000	0.47160	2.932000	0.99384	0.643000	0.83706	CGC		0.567	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		3	55	0	0	0	0.004672	0	3	55					A	33235075	G	A	33235075	3	1	88	1	0	0	0	0	1	0	0	0	17211	1116	39	1	1196	1	VPS52	6	33235075	Missense_Mutation	SNP	G	TCGA-DJ-A1QN-01A-11D-A14W-08	2776009	33235075	137879992	6	1977											
FOXP2	93986	broad.mit.edu	37	chr7	114269973	114269973	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaacaacagcagcagcaAcaacaacaacaacagcagca	6	14	0	0	rs576887296|rs398124272	byFrequency	TCGA-DJ-A1QN-01A-11D-A14W-08	TCGA-DJ-A1QN-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34a8702a-2fda-435f-be31-da579533f3a1	04e153bc-3c9d-4cd4-bf18-cf74c14c1352	g.chr7:114269973A>G	ENST00000393494.2	+	5	789	c.510A>G	c.(508-510)caA>caG	p.Q170Q	FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000393500.3_Silent_p.Q95Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q195Q(1)	kidney(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(283-285)caA>caG		forkhead box P2							37	35	35					7																	114269973		2203	4294	6497	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	g.chr7:114269973A>G	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.510A>G	7.37:g.114269973A>G						FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q	p.Q95Q			O15409	FOXP2_HUMAN			11	1105	+			170			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.285A>G	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		3	52	0	0	0	0.004672	0	3	52					G	114269973	A	G	114269973	2	3	88	1	0	0	0	0	0	0	0	1	6027	40	2	3		3	FOXP2	7	114269973	Silent	SNP	A	TCGA-DJ-A1QN-01A-11D-A14W-08		114269973	44868690	7	1978											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A1QN-01A-11D-A14W-08	TCGA-DJ-A1QN-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34a8702a-2fda-435f-be31-da579533f3a1	04e153bc-3c9d-4cd4-bf18-cf74c14c1352	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		36	52	0	0	0	0.005524	0	36	52					T	140453136	A	T	140453136	3	4	88	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A1QN-01A-11D-A14W-08	26183163	140453136	18685527	8	1979											
NDST2	8509	broad.mit.edu	37	chr10	75563477	75563477	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataggaaatcagtgctggcaTtggaaggaacagggaagaaa	14	4	1	1			TCGA-DJ-A1QN-01A-11D-A14W-08	TCGA-DJ-A1QN-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34a8702a-2fda-435f-be31-da579533f3a1	04e153bc-3c9d-4cd4-bf18-cf74c14c1352	g.chr10:75563477T>C	ENST00000309979.6	-	11	2553	c.1997A>G	c.(1996-1998)aAt>aGt	p.N666S	ZSWIM8-AS1_ENST00000456638.2_RNA|RP11-574K11.31_ENST00000603027.1_Missense_Mutation_p.N666S|NDST2_ENST00000299641.4_Missense_Mutation_p.N543S			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	666	Heparan sulfate N-sulfotransferase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					AGTGCTGGCATTGGAAGGAAC	0.493																																						ENST00000299641.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30						c.(1627-1629)aAt>aGt		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2							125	135	131					10																	75563477		2203	4300	6503	SO:0001583	missense	8509					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr10:75563477T>C	U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"Sulfotransferases, membrane-bound"	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.1997A>G	10.37:g.75563477T>C	ENSP00000310657:p.Asn666Ser					NDST2_ENST00000309979.6_Missense_Mutation_p.N666S	p.N543S	NM_003635.3	NP_003626.1	P52849	NDST2_HUMAN			12	2598	-	Prostate(51;0.0112)		666			Heparan sulfate N-deacetylase 2.		Q2TB32|Q59H89	Missense_Mutation	SNP	ENST00000309979.6	37	c.1628A>G	CCDS7335.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.944745	0.73672	.	.	ENSG00000166507	ENST00000309979;ENST00000299641	D;D	0.82167	-1.58;-1.58	5.95	5.95	0.96441	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.85435	0.5696	L	0.28192	0.835	0.80722	D	1	P;P;D;D	0.63046	0.641;0.464;0.972;0.992	P;P;D;D	0.77004	0.863;0.714;0.946;0.989	D	0.83866	0.0271	10	0.27785	T	0.31	.	16.4159	0.83738	0.0:0.0:0.0:1.0	.	543;336;189;666	B4E139;B4DQU1;B4DE98;P52849	.;.;.;NDST2_HUMAN	S	666;543	ENSP00000310657:N666S;ENSP00000299641:N543S	ENSP00000299641:N543S	N	-	2	0	NDST2	75233483	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.279000	0.76181	0.533000	0.62120	AAT		0.493	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048710.1	NM_003635		45	162	0	0	0	0.00361	0	45	162					C	75563477	T	C	75563477	3	2	88	1	0	0	0	0	1	0	0	0	10256	1493	52	3	674	3	NDST2	10	75563477	Missense_Mutation	SNP	T	TCGA-DJ-A1QN-01A-11D-A14W-08		75563477	59971270	9	1980											
SLC5A2	6524	broad.mit.edu	37	chr16	31499718	31499718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcagacgaggtggcgtgcGtggtgcctgaggtgtgcagg	21	7	0	2			TCGA-DJ-A1QN-01A-11D-A14W-08	TCGA-DJ-A1QN-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34a8702a-2fda-435f-be31-da579533f3a1	04e153bc-3c9d-4cd4-bf18-cf74c14c1352	g.chr16:31499718G>A	ENST00000330498.3	+	9	1055	c.1036G>A	c.(1036-1038)Gtg>Atg	p.V346M	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	346					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)	p.V346M(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	GGTGGCGTGCGTGGTGCCTGA	0.672																																						ENST00000330498.3																			1	Substitution - Missense(1)	p.V346M(1)	ovary(1)	endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(1036-1038)Gtg>Atg		solute carrier family 5 (sodium/glucose cotransporter), member 2							34	35	35					16																	31499718		2196	4299	6495	SO:0001583	missense	6524				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	g.chr16:31499718G>A		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"Solute carriers"	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1036G>A	16.37:g.31499718G>A	ENSP00000327943:p.Val346Met					AC026471.6_ENST00000565137.1_RNA	p.V346M	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN			9	1055	+			346					A2RRD2	Missense_Mutation	SNP	ENST00000330498.3	37	c.1036G>A	CCDS10714.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789172	0.70337	.	.	ENSG00000140675	ENST00000330498;ENST00000419665	D;D	0.89123	-2.47;-2.47	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.94820	0.8327	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95220	0.8333	10	0.59425	D	0.04	.	15.2095	0.73209	0.0:0.0:1.0:0.0	.	346	P31639	SC5A2_HUMAN	M	346	ENSP00000327943:V346M;ENSP00000410601:V346M	ENSP00000327943:V346M	V	+	1	0	SLC5A2	31407219	1.000000	0.71417	0.993000	0.49108	0.122000	0.20287	9.650000	0.98490	2.453000	0.82957	0.561000	0.74099	GTG		0.672	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			5	10	0	0	0	0.000602	0	5	10					A	31499718	G	A	31499718	3	1	88	1	0	0	0	0	1	0	0	0	14665	1145	40	1	1070	1	SLC5A2	16	31499718	Missense_Mutation	SNP	G	TCGA-DJ-A1QN-01A-11D-A14W-08		31499718	58855035	10	1981											
EVPL	2125	broad.mit.edu	37	chr17	74006561	74006561	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgactctctccctgcttGggcagggctctcggagccct	11	16	3	1			TCGA-DJ-A1QN-01A-11D-A14W-08	TCGA-DJ-A1QN-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34a8702a-2fda-435f-be31-da579533f3a1	04e153bc-3c9d-4cd4-bf18-cf74c14c1352	g.chr17:74006561G>A	ENST00000301607.3	-	22	2978	c.2725C>T	c.(2725-2727)Caa>Taa	p.Q909*	EVPL_ENST00000586740.1_Nonsense_Mutation_p.Q931*	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	909	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTCCCTGCTTGGGCAGGGCTC	0.637																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(2725-2727)Caa>Taa		envoplakin							30	31	30					17																	74006561		2203	4300	6503	SO:0001587	stop_gained	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74006561G>A	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.2725C>T	17.37:g.74006561G>A	ENSP00000301607:p.Gln909*					EVPL_ENST00000586740.1_Nonsense_Mutation_p.Q931*	p.Q909*	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	2978	-			909			Central fibrous rod domain.		A0AUV5	Nonsense_Mutation	SNP	ENST00000301607.3	37	c.2725C>T	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	G	34	5.295018	0.95574	.	.	ENSG00000167880	ENST00000301607	.	.	.	5.11	2.95	0.34219	.	0.990523	0.08223	N	0.978809	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	0.2164	9.3446	0.38100	0.0:0.2038:0.4844:0.3118	.	.	.	.	X	909	.	ENSP00000301607:Q909X	Q	-	1	0	EVPL	71518156	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-0.114000	0.10757	1.271000	0.44313	0.555000	0.69702	CAA		0.637	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		5	26	0	0	0	0.001168	0	5	26					A	74006561	G	A	74006561	4	1	88	1	0	0	0	0	0	1	0	0	5292	1357	47	2	3380	2	EVPL	17	74006561	Nonsense_Mutation	SNP	G	TCGA-DJ-A1QN-01A-11D-A14W-08		74006561	7188649	11	1982											
PWP2	5822	broad.mit.edu	37	chr21	45538677	45538677	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agcatcgcctcagtggccatCaatagctcgggggactggat	13	11	2	0			TCGA-DJ-A1QN-01A-11D-A14W-08	TCGA-DJ-A1QN-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34a8702a-2fda-435f-be31-da579533f3a1	04e153bc-3c9d-4cd4-bf18-cf74c14c1352	g.chr21:45538677C>A	ENST00000291576.7	+	9	1141	c.1014C>A	c.(1012-1014)atC>atA	p.I338I		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	338					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		CAGTGGCCATCAATAGCTCGG	0.612																																						ENST00000291576.7																			0				cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21						c.(1012-1014)atC>atA		PWP2 periodic tryptophan protein homolog (yeast)							132	103	113					21																	45538677		2203	4300	6503	SO:0001819	synonymous_variant	5822					cytoplasm|nucleolus	signal transducer activity	g.chr21:45538677C>A		CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"WD repeat domain containing"	9711	protein-coding gene	gene with protein product		601475	"PWP2 (periodic tryptophan protein, yeast) homolog"	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.1014C>A	21.37:g.45538677C>A							p.I338I	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN		STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)	9	1141	+			338					B2RAG8|Q96A77	Silent	SNP	ENST00000291576.7	37	c.1014C>A	CCDS33579.1																																																																																				0.612	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195736.3	NM_005049		3	47	1	0	0.004672	0.004672	0.00676634	3	47					A	45538677	C	A	45538677	2	1	88	1	0	0	0	0	0	0	0	1	12844	816	29	4		4	PWP2	21	45538677	Silent	SNP	C	TCGA-DJ-A1QN-01A-11D-A14W-08		45538677	2591218	12	1983											
ZBTB40	9923	broad.mit.edu	37	chr1	22816958	22816958	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccagggggccctgtgaaaGctgagactgaggaagcagcc	15	11	0	3			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr1:22816958G>T	ENST00000375647.4	+	2	724	c.517G>T	c.(517-519)Gct>Tct	p.A173S	ZBTB40_ENST00000404138.1_Missense_Mutation_p.A173S|ZBTB40_ENST00000374651.4_Missense_Mutation_p.A173S	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	173					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|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(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CCCTGTGAAAGCTGAGACTGA	0.542																																						ENST00000404138.1																			0				endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(517-519)Gct>Tct		zinc finger and BTB domain containing 40							143	159	153					1																	22816958		2203	4300	6503	SO:0001583	missense	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22816958G>T	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.517G>T	1.37:g.22816958G>T	ENSP00000364798:p.Ala173Ser					ZBTB40_ENST00000375647.4_Missense_Mutation_p.A173S|ZBTB40_ENST00000374651.4_Missense_Mutation_p.A173S	p.A173S	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	3	1028	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	173					O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	ENST00000375647.4	37	c.517G>T	CCDS224.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829658	0.71258	.	.	ENSG00000184677	ENST00000404138;ENST00000374649;ENST00000375647;ENST00000400239;ENST00000374651	T;T;T;T	0.07908	3.15;3.15;3.27;3.16	4.94	3.96	0.45880	.	0.257978	0.27424	N	0.019436	T	0.10852	0.0265	L	0.60455	1.87	0.09310	N	1	B;B	0.30281	0.275;0.18	B;B	0.38803	0.282;0.146	T	0.20107	-1.0285	10	0.15952	T	0.53	-12.3703	9.1729	0.37093	0.0:0.1576:0.6801:0.1624	.	173;173	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	S	173;127;173;173;173	ENSP00000384527:A173S;ENSP00000364798:A173S;ENSP00000383098:A173S;ENSP00000363782:A173S	ENSP00000363780:A127S	A	+	1	0	ZBTB40	22689545	0.985000	0.35326	0.729000	0.30791	0.450000	0.32258	2.123000	0.41996	2.444000	0.82710	0.591000	0.81541	GCT		0.542	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		13	219	1	0	6.72482e-11	0.003163	1.03459e-10	13	219					T	22816958	G	T	22816958	3	4	89	1	0	0	0	0	1	0	0	0	17539	971	34	4	519	4	ZBTB40	1	22816958	Missense_Mutation	SNP	G	TCGA-DJ-A1QO-01A-11D-A14W-08		22816958	226433663	1	1984											
KCMF1	56888	broad.mit.edu	37	chr2	85276643	85276643	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacaactggagaccgcacgCaacgcaacccggcgtactaa	9	15	0	1			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr2:85276643C>T	ENST00000409785.4	+	6	1115	c.756C>T	c.(754-756)cgC>cgT	p.R252R		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	252							ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						AGACCGCACGCAACGCAACCC	0.537																																						ENST00000409785.3																			0				ovary(3)	3						c.(754-756)cgC>cgT		potassium channel modulatory factor 1							114	126	122					2																	85276643		2197	4296	6493	SO:0001819	synonymous_variant	56888					intracellular	ligase activity|zinc ion binding	g.chr2:85276643C>T	AF155652	CCDS46350.1	2p11.2	2010-11-23			ENSG00000176407	ENSG00000176407		"Zinc fingers, ZZ-type"	20589	protein-coding gene	gene with protein product		614719					Standard	NM_020122		Approved	DEBT91, PCMF, DKFZP434L1021, ZZZ1	uc002sox.4	Q9P0J7	OTTHUMG00000153004	ENST00000409785.4:c.756C>T	2.37:g.85276643C>T							p.R252R	NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN			6	1115	+			252					Q4ZG04|Q53SC7|Q9BWK2|Q9H8P5|Q9UFE8	Silent	SNP	ENST00000409785.4	37	c.756C>T	CCDS46350.1																																																																																				0.537	KCMF1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328942.4	NM_020122		8	40	0	0	0	0.00308	0	8	40					T	85276643	C	T	85276643	2	4	89	1	0	0	0	0	0	0	0	1	8000	697	25	2		2	KCMF1	2	85276643	Silent	SNP	C	TCGA-DJ-A1QO-01A-11D-A14W-08		85276643	157922730	2	1985											
TTN	7273	broad.mit.edu	37	chr2	179580380	179580380	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctgctctcttgaatttcagtCtcgtccttataccataaaac	4	12	3	1			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr2:179580380C>G	ENST00000591111.1	-	87	25034	c.24810G>C	c.(24808-24810)gaG>gaC	p.E8270D	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E8587D|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E7343D|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12448	Ig-like 65.				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)			GAATTTCAGTCTCGTCCTTAT	0.408																																						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.(25759-25761)gaG>gaC		titin							84	82	82					2																	179580380		1939	4145	6084	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179580380C>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.24810G>C	2.37:g.179580380C>G	ENSP00000465570:p.Glu8270Asp					TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E8270D|TTN_ENST00000342992.6_Missense_Mutation_p.E7343D|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	p.E8587D	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)		89	25985	-			8270			Ig-like 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.25761G>C		.	.	.	.	.	.	.	.	.	.	C	12.36	1.915378	0.33815	.	.	ENSG00000155657	ENST00000342992	T	0.39406	1.08	5.33	2.39	0.29439	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.17109	0.0411	N	0.03177	-0.4	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12400	-1.0549	9	0.87932	D	0	.	2.6498	0.04995	0.3855:0.3571:0.0:0.2574	.	8270	Q8WZ42	TITIN_HUMAN	D	7343	ENSP00000343764:E7343D	ENSP00000343764:E7343D	E	-	3	2	TTN	179288625	0.863000	0.29885	1.000000	0.80357	0.966000	0.64601	0.321000	0.19558	1.375000	0.46248	-0.136000	0.14681	GAG		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	18	0	0	0	0.004482	0	9	18					G	179580380	C	G	179580380	3	3	89	1	0	0	0	0	1	0	0	0	16732	912	32	4	78864	4	TTN	2	179580380	Missense_Mutation	SNP	C	TCGA-DJ-A1QO-01A-11D-A14W-08	94303737	179580380	63618993	3	1986											
ZNF141	7700	broad.mit.edu	37	chr4	366799	366799	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacctaactcaacataaggtAattcatgctggagagaaacc	7	10	2	1			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr4:366799A>G	ENST00000240499.7	+	4	722	c.573A>G	c.(571-573)gtA>gtG	p.V191V	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	191					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						AACATAAGGTAATTCATGCTG	0.343																																						ENST00000240499.7																			0				breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						c.(571-573)gtA>gtG		zinc finger protein 141							66	71	70					4																	366799		2201	4299	6500	SO:0001819	synonymous_variant	7700				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr4:366799A>G	L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"Zinc fingers, C2H2-type", "-"	12926	protein-coding gene	gene with protein product		194648	"zinc finger protein 141 (clone pHZ-44)"	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.573A>G	4.37:g.366799A>G						ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	p.V191V	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN			4	722	+			191					Q6DK07	Silent	SNP	ENST00000240499.7	37	c.573A>G	CCDS33931.1																																																																																				0.343	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		18	71	0	0	0	0.008871	0	18	71					G	366799	A	G	366799	2	3	89	1	0	0	0	0	0	0	0	1	17727	349	13	3		3	ZNF141	4	366799	Silent	SNP	A	TCGA-DJ-A1QO-01A-11D-A14W-08		366799	190787477	4	1987											
GPR98	84059	broad.mit.edu	37	chr5	90084066	90084066	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagagacattcattattaAacttcatcttgtgaaaggag	8	5	3	3			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr5:90084066A>G	ENST00000405460.2	+	68	13928	c.13832A>G	c.(13831-13833)aAa>aGa	p.K4611R	GPR98_ENST00000425867.2_Missense_Mutation_p.K272R	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4611	Calx-beta 31. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTCATTATTAAACTTCATCTT	0.348																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(13831-13833)aAa>aGa		G protein-coupled receptor 98							75	75	75					5																	90084066		1831	4085	5916	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90084066A>G	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.13832A>G	5.37:g.90084066A>G	ENSP00000384582:p.Lys4611Arg					GPR98_ENST00000425867.2_Missense_Mutation_p.K272R	p.K4611R	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	68	13928	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	4611			Calx-beta 31.		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.13832A>G	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	0.325	-0.959332	0.02267	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.26810	1.71;1.71	4.94	3.78	0.43462	.	0.453841	0.26680	N	0.023053	T	0.14830	0.0358	L	0.38531	1.155	0.20307	N	0.999916	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.08055	0.002;0.001;0.003	T	0.26985	-1.0087	10	0.13470	T	0.59	.	3.1188	0.06383	0.5978:0.0:0.2268:0.1753	.	272;4611;272	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	R	4611;4611;272	ENSP00000384582:K4611R;ENSP00000392618:K272R	ENSP00000296619:K4611R	K	+	2	0	GPR98	90119822	1.000000	0.71417	0.033000	0.17914	0.027000	0.11550	3.926000	0.56491	0.846000	0.35142	-0.256000	0.11100	AAA		0.348	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		19	29	0	0	0	0.008871	0	19	29					G	90084066	A	G	90084066	3	3	89	1	0	0	0	0	1	0	0	0	6721	14	1	3	14102	3	GPR98	5	90084066	Missense_Mutation	SNP	A	TCGA-DJ-A1QO-01A-11D-A14W-08		90084066	90831194	5	1988											
PCDHA8	56140	broad.mit.edu	37	chr5	140222123	140222123	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caccttcaagaattactactCgttggtgctggacagcgccc	9	13	1	1			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr5:140222123C>T	ENST00000531613.1	+	1	1217	c.1217C>T	c.(1216-1218)tCg>tTg	p.S406L	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.S406L|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	406	Cadherin 4. {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(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATTACTACTCGTTGGTGCTG	0.632																																						ENST00000531613.1																			0				NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(1216-1218)tCg>tTg									138	123	128					5																	140222123		2203	4299	6502	SO:0001583	missense	0							g.chr5:140222123C>T	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1217C>T	5.37:g.140222123C>T	ENSP00000434655:p.Ser406Leu					PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.S406L|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	p.S406L	NM_018911.2	NP_061734.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1217	+								B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1217C>T	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.380367	0.61845	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.02631	4.22;4.22	3.57	3.57	0.40892	Cadherin (4);Cadherin-like (1);	0.000000	0.33895	U	0.004458	T	0.09992	0.0245	L	0.45422	1.42	0.34296	D	0.683815	D;D	0.89917	1.0;0.999	D;D	0.75020	0.985;0.963	T	0.15925	-1.0420	10	0.72032	D	0.01	.	15.5787	0.76414	0.0:1.0:0.0:0.0	.	406;406	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	L	406	ENSP00000434655:S406L;ENSP00000367363:S406L	ENSP00000367363:S406L	S	+	2	0	PCDHA8	140202307	0.001000	0.12720	0.603000	0.28903	0.463000	0.32649	0.896000	0.28377	1.709000	0.51313	0.306000	0.20318	TCG		0.632	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		71	146	0	0	0	0.00361	0	71	146					T	140222123	C	T	140222123	3	4	89	1	0	0	0	0	1	0	0	0	11530	893	31	1	1219	1	PCDHA8	5	140222123	Missense_Mutation	SNP	C	TCGA-DJ-A1QO-01A-11D-A14W-08	50138057	140222123	40693137	6	1989											
BAT2	7916	broad.mit.edu	37	chr6	31602045	31602045	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cctcctcatagctctggattCttgggctctaagcctgaggg	11	12	4	1	rs146122581		TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr6:31602045C>A	ENST00000376033.2	+	19	4986	c.4752C>A	c.(4750-4752)ttC>ttA	p.F1584L	PRRC2A_ENST00000376007.4_Missense_Mutation_p.F1584L	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1584	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GCTCTGGATTCTTGGGCTCTA	0.527																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(4750-4752)ttC>ttA		proline-rich coiled-coil 2A							297	370	344					6																	31602045		1511	2709	4220	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31602045C>A	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.4752C>A	6.37:g.31602045C>A	ENSP00000365201:p.Phe1584Leu					PRRC2A_ENST00000376007.4_Missense_Mutation_p.F1584L	p.F1584L	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			19	4986	+			1584			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.4752C>A	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.057987	0.36277	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01685	4.69;4.69	5.31	2.53	0.30540	.	0.201305	0.35970	N	0.002876	T	0.00496	0.0016	N	0.19112	0.55	0.32582	N	0.528301	B	0.06786	0.001	B	0.08055	0.003	T	0.49214	-0.8963	10	0.87932	D	0	-1.1559	4.6779	0.12720	0.0:0.5857:0.1592:0.2551	.	1584	P48634	PRC2A_HUMAN	L	1578;1567;1584;1584;809	ENSP00000365175:F1584L;ENSP00000365201:F1584L	ENSP00000365175:F1584L	F	+	3	2	PRRC2A	31710024	0.992000	0.36948	1.000000	0.80357	0.993000	0.82548	0.139000	0.16036	0.369000	0.24510	0.561000	0.74099	TTC		0.527	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		8	489	1	0	5.18039e-06	0.00308	7.67465e-06	8	489					A	31602045	C	A	31602045	3	1	89	1	0	0	0	0	1	0	0	0	1319	912	32	4	4822	4	BAT2	6	31602045	Missense_Mutation	SNP	C	TCGA-DJ-A1QO-01A-11D-A14W-08		31602045	139513022	7	1990											
TAAR5	9038	broad.mit.edu	37	chr6	132910122	132910122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccaggcttttgctcaatGtggtaatctgctgagcctgt	11	10	2	1			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr6:132910122G>A	ENST00000258034.2	-	1	755	c.704C>T	c.(703-705)aCa>aTa	p.T235I		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	235					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		TTTGCTCAATGTGGTAATCTG	0.502																																						ENST00000258034.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32						c.(703-705)aCa>aTa		trace amine associated receptor 5							45	45	45					6																	132910122		2203	4300	6503	SO:0001583	missense	9038				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr6:132910122G>A	AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"GPCR / Class A : Trace amine associated receptors"	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.704C>T	6.37:g.132910122G>A	ENSP00000258034:p.Thr235Ile						p.T235I	NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)	1	755	-	Breast(56;0.112)		235					D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Missense_Mutation	SNP	ENST00000258034.2	37	c.704C>T	CCDS5156.1	.	.	.	.	.	.	.	.	.	.	G	3.073	-0.190753	0.06299	.	.	ENSG00000135569	ENST00000258034	T	0.38560	1.13	5.58	-0.832	0.10785	GPCR, rhodopsin-like superfamily (1);	0.280628	0.27231	N	0.020304	T	0.14013	0.0339	L	0.52266	1.64	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.24941	-1.0146	10	0.59425	D	0.04	-3.8993	5.5091	0.16870	0.0608:0.3161:0.202:0.4211	.	235	O14804	TAAR5_HUMAN	I	235	ENSP00000258034:T235I	ENSP00000258034:T235I	T	-	2	0	TAAR5	132951815	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.284000	0.08422	-0.058000	0.13177	0.655000	0.94253	ACA		0.502	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	NM_003967		18	29	0	0	0	0.007413	0	18	29					A	132910122	G	A	132910122	3	1	89	1	0	0	0	0	1	0	0	0	15488	1377	48	2	313	2	TAAR5	6	132910122	Missense_Mutation	SNP	G	TCGA-DJ-A1QO-01A-11D-A14W-08	101308077	132910122	38204945	8	1991											
ARID1B	57492	broad.mit.edu	37	chr6	157521926	157521926	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatgcagtacagcagccagCagcaggagatgtacaaccag	11	11	0	1			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr6:157521926C>T	ENST00000350026.5	+	17	4160	c.4159C>T	c.(4159-4161)Cag>Tag	p.Q1387*	ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q1382*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q1440*|ARID1B_ENST00000346085.5_Nonsense_Mutation_p.Q1400*	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1387					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAGCAGCCAGCAGCAGGAGAT	0.592																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(4198-4200)Cag>Tag		AT rich interactive domain 1B (SWI1-like)							62	66	65					6																	157521926		2203	4296	6499	SO:0001587	stop_gained	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157521926C>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4159C>T	6.37:g.157521926C>T	ENSP00000055163:p.Gln1387*					ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q1440*|ARID1B_ENST00000350026.5_Nonsense_Mutation_p.Q1387*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q1382*	p.Q1400*	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	18	4199	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1387					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Nonsense_Mutation	SNP	ENST00000350026.5	37	c.4198C>T	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	41	8.812488	0.98964	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	.	.	.	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	18.414	0.90562	0.0:1.0:0.0:0.0	.	.	.	.	X	1400;1387;1440;1382;909	.	ENSP00000275248:Q1382X	Q	+	1	0	ARID1B	157563618	1.000000	0.71417	1.000000	0.80357	0.426000	0.31534	6.988000	0.76212	2.413000	0.81919	0.655000	0.94253	CAG		0.592	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		26	44	0	0	0	0.003954	0	26	44					T	157521926	C	T	157521926	4	4	89	1	0	0	0	0	0	1	0	0	914	711	25	2	4268	2	ARID1B	6	157521926	Nonsense_Mutation	SNP	C	TCGA-DJ-A1QO-01A-11D-A14W-08	24611804	157521926	13593141	9	1992											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		15	38	0	0	0	0.003163	0	15	38					T	140453136	A	T	140453136	3	4	89	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A1QO-01A-11D-A14W-08		140453136	18685527	10	1993											
MYOM2	9172	broad.mit.edu	37	chr8	2027691	2027691	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccatttatcaggatgaccttGaaggtaagtagcacctcatc	8	10	2	2			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr8:2027691G>C	ENST00000262113.4	+	13	1654	c.1513G>C	c.(1513-1515)Gaa>Caa	p.E505Q	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	505					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GGATGACCTTGAAGGTAAGTA	0.512																																						ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(1513-1515)Gaa>Caa		myomesin 2							233	224	227					8																	2027691		2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2027691G>C		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1513G>C	8.37:g.2027691G>C	ENSP00000262113:p.Glu505Gln					MYOM2_ENST00000523438.1_Intron	p.E505Q	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	13	1654	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	505					Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.1513G>C	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904729	0.52333	.	.	ENSG00000036448	ENST00000262113	T	0.54675	0.56	5.26	5.26	0.73747	.	0.138038	0.48286	D	0.000185	T	0.64125	0.2570	M	0.76002	2.32	0.80722	D	1	D	0.55800	0.973	P	0.49528	0.614	T	0.67791	-0.5579	10	0.48119	T	0.1	.	18.8744	0.92328	0.0:0.0:1.0:0.0	.	505	P54296	MYOM2_HUMAN	Q	505	ENSP00000262113:E505Q	ENSP00000262113:E505Q	E	+	1	0	MYOM2	2015098	1.000000	0.71417	0.942000	0.38095	0.025000	0.11179	7.783000	0.85696	2.449000	0.82847	0.655000	0.94253	GAA		0.512	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		6	230	0	0	0	0.001168	0	6	230					C	2027691	G	C	2027691	3	2	89	1	0	0	0	0	1	0	0	0	10092	1291	45	4	1559	4	MYOM2	8	2027691	Missense_Mutation	SNP	G	TCGA-DJ-A1QO-01A-11D-A14W-08		2027691	144336331	11	1994											
FAM35A	54537	broad.mit.edu	37	chr10	88911590	88911591	+	Frame_Shift_Del	DEL	GT	GT	-													acatcagccagatatatgtgGtaagaactttaacacaaatt							TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr10:88911590_88911591delGT	ENST00000298784.1	+	3	593_594	c.479_480delGT	c.(478-480)ggtfs	p.G160fs	RN7SL733P_ENST00000582253.1_RNA|FAM35A_ENST00000298786.4_Frame_Shift_Del_p.G160fs	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	160										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						GATATATGTGGTAAGAACTTTA	0.366																																					Ovarian(175;703 2004 25460 32514 43441)	ENST00000298786.4																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						c.(478-480)gfs		family with sequence similarity 35, member A																																				SO:0001589	frameshift_variant	54537							g.chr10:88911590_88911591delGT	BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.479_480delGT	10.37:g.88911590_88911591delGT	ENSP00000298784:p.Gly160fs					FAM35A_ENST00000298784.1_Frame_Shift_Del_p.G160fs	p.G160fs			Q86V20	FA35A_HUMAN			3	593_594	+			160					O95885|Q9H991	Frame_Shift_Del	DEL	ENST00000298784.1	37	c.479_480delGT	CCDS7383.1																																																																																				0.366	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054		28	78						28	78	---	---	---	---	-	88911591	GT	-	88911590	7	5	89	1	0	1	0	1	0	0	0	0	5553	1261	44	0	481	0	FAM35A	10	88911590	Frame_Shift_Del	DEL	GT	TCGA-DJ-A1QO-01A-11D-A14W-08		88911590	46623157	12	1995											
DNTT	1791	broad.mit.edu	37	chr10	98087290	98087290	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcagaggccgtcagtgtgCtggttaaagaggctgtctgg	16	7	2	2			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr10:98087290C>T	ENST00000371174.2	+	7	1042	c.940C>T	c.(940-942)Ctg>Ttg	p.L314L	DNTT_ENST00000419175.1_Silent_p.L314L			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	314	Mediates interaction with DNTTIP2.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		CGTCAGTGTGCTGGTTAAAGA	0.522																																						ENST00000419175.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(940-942)Ctg>Ttg		DNA nucleotidylexotransferase							268	244	252					10																	98087290		2203	4300	6503	SO:0001819	synonymous_variant	1791				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr10:98087290C>T	AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"DNA polymerases"	2983	protein-coding gene	gene with protein product	"Terminal deoxynucleotidyltransferase"	187410	"deoxynucleotidyltransferase, terminal"				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.940C>T	10.37:g.98087290C>T						DNTT_ENST00000371174.2_Silent_p.L314L	p.L314L	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)	7	1110	+		Colorectal(252;0.0815)|all_hematologic(284;0.224)	314			Mediates interaction with DNTTIP2.		Q53FH1|Q5W103|Q96E50	Silent	SNP	ENST00000371174.2	37	c.940C>T	CCDS7447.1																																																																																				0.522	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1	NM_004088		4	209	0	0	0	0.000248	0	4	209					T	98087290	C	T	98087290	2	4	89	1	0	0	0	0	0	0	0	1	4680	796	28	2		2	DNTT	10	98087290	Silent	SNP	C	TCGA-DJ-A1QO-01A-11D-A14W-08	9175700	98087290	37447457	13	1996											
CNGA4	1262	broad.mit.edu	37	chr11	6261928	6261928	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaccgcaagctggagcggCgagttattgactggtgagaa	14	8	1	2	rs532111437		TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr11:6261928C>T	ENST00000379936.2	+	4	1019	c.904C>T	c.(904-906)Cga>Tga	p.R302*	CNGA4_ENST00000533426.1_Nonsense_Mutation_p.R71*	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	302					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGGAGCGGCGAGTTATTGA	0.542																																						ENST00000379936.2																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40						c.(904-906)Cga>Tga		cyclic nucleotide gated channel alpha 4							72	63	66					11																	6261928		2201	4296	6497	SO:0001587	stop_gained	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6261928C>T	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2152	protein-coding gene	gene with protein product		609472	"cyclic nucleotide gated channel beta 2"	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.904C>T	11.37:g.6261928C>T	ENSP00000369268:p.Arg302*					CNGA4_ENST00000533426.1_Nonsense_Mutation_p.R71*	p.R302*	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	1019	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	302						Nonsense_Mutation	SNP	ENST00000379936.2	37	c.904C>T	CCDS31408.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.876360	0.72180	.	.	ENSG00000132259	ENST00000533426;ENST00000379936	.	.	.	5.15	2.11	0.27256	.	0.119205	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0481	0.58939	0.5604:0.4396:0.0:0.0	.	.	.	.	X	71;302	.	ENSP00000369268:R302X	R	+	1	2	CNGA4	6218504	0.372000	0.25064	0.604000	0.28916	0.399000	0.30720	0.922000	0.28734	0.231000	0.21079	-0.268000	0.10319	CGA		0.542	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		14	40	0	0	0	0.00245	0	14	40					T	6261928	C	T	6261928	4	4	89	1	0	0	0	0	0	1	0	0	3599	760	27	1	918	1	CNGA4	11	6261928	Nonsense_Mutation	SNP	C	TCGA-DJ-A1QO-01A-11D-A14W-08		6261928	128744588	14	1997											
HTATIP2	10553	broad.mit.edu	37	chr11	20404724	20404724	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaggccatccatgacctgggGaaagcgcatggctctctcaa	11	12	2	1			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr11:20404724G>A	ENST00000451739.2	+	5	1143	c.702G>A	c.(700-702)ggG>ggA	p.G234G	HTATIP2_ENST00000443524.2_Silent_p.G234G|HTATIP2_ENST00000421577.2_Silent_p.G234G|HTATIP2_ENST00000419348.2_Silent_p.G268G|HTATIP2_ENST00000531058.1_Silent_p.G188G	NM_001098522.1	NP_001091992.1			HIV-1 Tat interactive protein 2, 30kDa											large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						ATGACCTGGGGAAAGCGCATG	0.473																																						ENST00000451739.2																			0				large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(700-702)ggG>ggA		HIV-1 Tat interactive protein 2, 30kDa							86	70	76					11																	20404724		2203	4300	6503	SO:0001819	synonymous_variant	10553				angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter	cytoplasm|nuclear envelope	NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity	g.chr11:20404724G>A	AF039103	CCDS7852.1, CCDS44553.1, CCDS53613.1	11p15.1	2011-09-14	2002-08-29		ENSG00000109854	ENSG00000109854	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Atypical members"	16637	protein-coding gene	gene with protein product	"Tat-interacting protein (30kD)", "short chain dehydrogenase/reductase family 44U, member 1"	605628	"HIV-1 Tat interactive protein 2, 30 kDa"			9482853, 9174052, 19027726	Standard	NM_006410		Approved	TIP30, CC3, FLJ26963, SDR44U1	uc001mpx.2	Q9BUP3	OTTHUMG00000166015	ENST00000451739.2:c.702G>A	11.37:g.20404724G>A						HTATIP2_ENST00000419348.2_Silent_p.G268G|HTATIP2_ENST00000531058.1_Silent_p.G188G|HTATIP2_ENST00000421577.2_Silent_p.G234G|HTATIP2_ENST00000443524.2_Silent_p.G234G	p.G234G	NM_001098522.1	NP_001091992.1	Q9BUP3	HTAI2_HUMAN			5	1143	+			234						Silent	SNP	ENST00000451739.2	37	c.702G>A	CCDS7852.1																																																																																				0.473	HTATIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387445.2	NM_001098521		4	13	0	0	0	0.000248	0	4	13					A	20404724	G	A	20404724	2	1	89	1	0	0	0	0	0	0	0	1	7432	1161	41	2		2	HTATIP2	11	20404724	Silent	SNP	G	TCGA-DJ-A1QO-01A-11D-A14W-08	14142796	20404724	114601792	15	1998											
RBM4B	83759	broad.mit.edu	37	chr11	66436191	66436191	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtagctgcggaagcctgagaTaattcactctctggcccata	10	11	2	1			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr11:66436191T>A	ENST00000525754.1	-	2	1652	c.984A>T	c.(982-984)ttA>ttT	p.L328F	RBM4B_ENST00000529195.2_5'UTR|RBM4B_ENST00000531969.1_Intron|RP11-658F2.8_ENST00000548810.1_RNA|RBM4B_ENST00000310046.4_Missense_Mutation_p.L328F|RP11-658F2.8_ENST00000550837.1_RNA			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	328	Interaction with TNPO3. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|entrainment of circadian clock by photoperiod (GO:0043153)|mRNA processing (GO:0006397)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						AAGCCTGAGATAATTCACTCT	0.552																																						ENST00000525754.1																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						c.(982-984)ttA>ttT		RNA binding motif protein 4B							62	56	58					11																	66436191		2200	4295	6495	SO:0001583	missense	83759				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding	g.chr11:66436191T>A	AK095158	CCDS8149.1, CCDS66144.1	11q13	2013-02-12	2006-01-25	2006-01-25				"Zinc fingers, CCHC domain containing", "RNA binding motif (RRM) containing"	28842	protein-coding gene	gene with protein product			"RNA binding motif protein 30"	RBM30		12477932	Standard	XR_247213		Approved	MGC10871, ZCCHC15, RBM4L, ZCRB3B, ZCCHC21B	uc001ojb.3	Q9BQ04		ENST00000525754.1:c.984A>T	11.37:g.66436191T>A	ENSP00000433071:p.Leu328Phe					RBM4B_ENST00000310046.4_Missense_Mutation_p.L328F|RBM4B_ENST00000529195.2_5'UTR|RBM4B_ENST00000531969.1_Intron	p.L328F			Q9BQ04	RBM4B_HUMAN			2	1652	-			328			Interaction with TNPO3 (By similarity).		B3KT83	Missense_Mutation	SNP	ENST00000525754.1	37	c.984A>T	CCDS8149.1	.	.	.	.	.	.	.	.	.	.	T	17.77	3.471557	0.63737	.	.	ENSG00000173914	ENST00000525754;ENST00000310046	T;T	0.27890	1.64;1.64	6.16	4.2	0.49525	.	0.300842	0.36628	N	0.002489	T	0.44973	0.1319	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	T	0.26292	-1.0107	10	0.48119	T	0.1	-4.0864	10.6089	0.45410	0.0:0.8142:0.0:0.1858	.	328	Q9BQ04	RBM4B_HUMAN	F	328	ENSP00000433071:L328F;ENSP00000310471:L328F	ENSP00000310471:L328F	L	-	3	2	RBM4B	66192767	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.018000	0.30002	0.823000	0.34589	-0.297000	0.09499	TTA		0.552	RBM4B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393851.1	NM_031492		19	40	0	0	0	0.006122	0	19	40					A	66436191	T	A	66436191	3	1	89	1	0	0	0	0	1	0	0	0	13142	1403	49	5	99	5	RBM4B	11	66436191	Missense_Mutation	SNP	T	TCGA-DJ-A1QO-01A-11D-A14W-08	46031467	66436191	68570325	16	1999											
NAV3	89795	broad.mit.edu	37	chr12	78583811	78583811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgtttttgatacgctgattCctaaaccaattacccaaagg	6	9	0	2			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr12:78583811C>T	ENST00000397909.2	+	34	6276	c.6103C>T	c.(6103-6105)Cct>Tct	p.P2035S	NAV3_ENST00000266692.7_Missense_Mutation_p.P1836S|NAV3_ENST00000228327.6_Missense_Mutation_p.P2013S|NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000536525.2_Missense_Mutation_p.P2013S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2035						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TACGCTGATTCCTAAACCAAT	0.353										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(6103-6105)Cct>Tct		neuron navigator 3							113	104	107					12																	78583811		1923	4147	6070	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78583811C>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6103C>T	12.37:g.78583811C>T	ENSP00000381007:p.Pro2035Ser	HNSCC(70;0.22)				NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000228327.6_Missense_Mutation_p.P2013S|NAV3_ENST00000536525.2_Missense_Mutation_p.P2013S|NAV3_ENST00000266692.7_Missense_Mutation_p.P1836S	p.P2035S			Q8IVL0	NAV3_HUMAN			34	6276	+			2035					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.6103C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.2|28.2	4.903370|4.903370	0.92035|0.92035	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788|ENST00000552895	D;D;D;D;D|.	0.88124|.	-2.34;-2.34;-2.34;-2.34;-2.34|.	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	0.000000|.	0.40064|.	U|.	0.001197|.	T|T	0.78755|0.78755	0.4333|0.4333	M|M	0.81112|0.81112	2.525|2.525	0.80722|0.80722	D|D	1|1	D;P;D;P|.	0.89917|.	1.0;0.911;1.0;0.835|.	D;P;D;P|.	0.97110|.	1.0;0.608;0.998;0.628|.	T|T	0.79813|0.79813	-0.1645|-0.1645	10|5	0.72032|.	D|.	0.01|.	-15.9984|-15.9984	18.7239|18.7239	0.91705|0.91705	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2013;1836;2035;2013|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	S|F	2013;2035;2013;1836;627;635|907	ENSP00000446132:P2013S;ENSP00000381007:P2035S;ENSP00000228327:P2013S;ENSP00000266692:P1836S;ENSP00000448303:P635S|.	ENSP00000228327:P2013S|.	P|S	+|+	1|2	0|0	NAV3|NAV3	77107942|77107942	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.720000|7.720000	0.84759|0.84759	2.498000|2.498000	0.84270|0.84270	0.655000|0.655000	0.94253|0.94253	CCT|TCC		0.353	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		37	56	0	0	0	0.004289	0	37	56					T	78583811	C	T	78583811	3	4	89	1	0	0	0	0	1	0	0	0	10185	855	30	2	6167	2	NAV3	12	78583811	Missense_Mutation	SNP	C	TCGA-DJ-A1QO-01A-11D-A14W-08		78583811	55268084	17	2000											
TSC22D1	8848	broad.mit.edu	37	chr13	45148706	45148708	+	In_Frame_Del	DEL	TGC	TGC	-													gttgctgttgttgttgttgtTgctgctgctgctgctgcacc					rs112613609		TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr13:45148706_45148708delTGC	ENST00000458659.2	-	1	1993_1995	c.1503_1505delGCA	c.(1501-1506)cagcaa>caa	p.501_502QQ>Q	TSC22D1_ENST00000501704.2_In_Frame_Del_p.501_502QQ>Q|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	501	Gln-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		ttgttgttgttgctgctgctgct	0.507																																						ENST00000458659.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1501-1506)caa>ca		TSC22 domain family, member 1																																				SO:0001651	inframe_deletion	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45148706_45148708delTGC	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"transforming growth factor beta 1 induced transcript 4"	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1503_1505delGCA	13.37:g.45148715_45148717delTGC	ENSP00000397435:p.Gln509del					TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ507del	p.QQ507del	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	1993_1995	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	507			Gln-rich.		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	In_Frame_Del	DEL	ENST00000458659.2	37	c.1503_1505delGCA	CCDS31966.1																																																																																				0.507	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		7	97						7	97	---	---	---	---	-	45148708	TGC	-	45148706	7	5	89	1	0	1	0	1	0	0	0	0	16604	1812	63	0	1857	0	TSC22D1	13	45148706	In_Frame_Del	DEL	TGC	TCGA-DJ-A1QO-01A-11D-A14W-08		45148706	70021172	18	2001											
MYCBP2	23077	broad.mit.edu	37	chr13	77673090	77673090	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgtgtttagaggacagCtctgattttcctgatgtaga	11	7	1	4			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr13:77673090C>T	ENST00000544440.2	-	56	8102	c.8085G>A	c.(8083-8085)gaG>gaA	p.E2695E	MYCBP2_ENST00000357337.6_Silent_p.E2695E|MYCBP2_ENST00000407578.2_Silent_p.E2733E|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000360084.5_Silent_p.E218E|MYCBP2_ENST00000482517.1_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TAGAGGACAGCTCTGATTTTC	0.413																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(8197-8199)gaG>gaA		MYC binding protein 2, E3 ubiquitin protein ligase							130	125	127					13																	77673090		2203	4300	6503	SO:0001819	synonymous_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77673090C>T	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.8085G>A	13.37:g.77673090C>T						MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000357337.6_Silent_p.E2695E|MYCBP2_ENST00000360084.5_Silent_p.E218E|MYCBP2_ENST00000544440.2_Silent_p.E2695E	p.E2733E	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	56	8465	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	2695			Ser-rich.			Silent	SNP	ENST00000544440.2	37	c.8199G>A																																																																																					0.413	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		32	66	0	0	0	0.002836	0	32	66					T	77673090	C	T	77673090	2	4	89	1	0	0	0	0	0	0	0	1	10018	796	28	2		2	MYCBP2	13	77673090	Silent	SNP	C	TCGA-DJ-A1QO-01A-11D-A14W-08	32524384	77673090	37496788	19	2002											
C14orf174	161394	broad.mit.edu	37	chr14	77844257	77844257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagatccagtgccaccaacgGaaaccatgtctgaggtttcg	10	12	1	2			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr14:77844257G>A	ENST00000216471.4	+	1	782	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	TMED8_ENST00000216468.7_5'Flank|SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	166										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCCACCAACGGAAACCATGTC	0.493																																						ENST00000216471.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(496-498)Gaa>Aaa		sterile alpha motif domain containing 15							90	98	95					14																	77844257		2203	4300	6503	SO:0001583	missense	161394							g.chr14:77844257G>A	AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"Sterile alpha motif (SAM) domain containing"	18631	protein-coding gene	gene with protein product			"family with sequence similarity 15, member A", "chromosome 14 open reading frame 174"	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.496G>A	14.37:g.77844257G>A	ENSP00000216471:p.Glu166Lys					SAMD15_ENST00000533095.2_Intron	p.E166K	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN			1	782	+			166					Q2M3P3	Missense_Mutation	SNP	ENST00000216471.4	37	c.496G>A	CCDS32126.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056959	0.76074	.	.	ENSG00000100583	ENST00000216471	T	0.24350	1.86	5.57	0.192	0.15134	.	.	.	.	.	T	0.16257	0.0391	L	0.46157	1.445	0.09310	N	1	B	0.24618	0.107	B	0.22386	0.039	T	0.31806	-0.9930	9	0.18710	T	0.47	-12.2146	1.1572	0.01798	0.249:0.2793:0.3287:0.143	.	166	Q9P1V8	SAM15_HUMAN	K	166	ENSP00000216471:E166K	ENSP00000216471:E166K	E	+	1	0	SAMD15	76914010	0.001000	0.12720	0.001000	0.08648	0.389000	0.30415	0.532000	0.23067	0.029000	0.15352	0.555000	0.69702	GAA		0.493	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860		35	82	0	0	0	0.003271	0	35	82					A	77844257	G	A	77844257	3	1	89	1	0	0	0	0	1	0	0	0	1759	1175	41	2	498	2	C14orf174	14	77844257	Missense_Mutation	SNP	G	TCGA-DJ-A1QO-01A-11D-A14W-08		77844257	29505283	20	2003											
DNAI2	64446	broad.mit.edu	37	chr17	72278108	72278108	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaacccagtggacacgggcaTccagtgctcgatcagcatgt	12	12	1	0	rs564894784		TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr17:72278108T>A	ENST00000311014.6	+	2	219	c.152T>A	c.(151-153)aTc>aAc	p.I51N	DNAI2_ENST00000307504.5_5'UTR|DNAI2_ENST00000579490.1_Missense_Mutation_p.I108N|DNAI2_ENST00000446837.2_Missense_Mutation_p.I51N|DNAI2_ENST00000582036.1_Missense_Mutation_p.I51N			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	51					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GACACGGGCATCCAGTGCTCG	0.662									Kartagener syndrome				T|||	1	0.000199681	0	0	5008	,	,		17730	0.001		0	False		,,,				2504	0					ENST00000579490.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(322-324)aTc>aAc		dynein, axonemal, intermediate chain 2							119	103	109					17																	72278108		2203	4300	6503	SO:0001583	missense	64446	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72278108T>A	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"Axonemal dyneins", "WD repeat domain containing"	18744	protein-coding gene	gene with protein product	"dynein intermediate chain 2"	605483	"dynein, axonemal, intermediate polypeptide 2"			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.152T>A	17.37:g.72278108T>A	ENSP00000308312:p.Ile51Asn					DNAI2_ENST00000307504.5_5'UTR|DNAI2_ENST00000582036.1_Missense_Mutation_p.I51N|DNAI2_ENST00000446837.2_Missense_Mutation_p.I51N|DNAI2_ENST00000311014.6_Missense_Mutation_p.I51N	p.I108N			Q9GZS0	DNAI2_HUMAN			1	458	+			51					C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	ENST00000311014.6	37	c.323T>A	CCDS11697.1	.	.	.	.	.	.	.	.	.	.	T	14.04	2.418078	0.42918	.	.	ENSG00000171595	ENST00000311014;ENST00000446837	T;T	0.15603	2.41;2.41	5.22	3.04	0.35103	.	0.563763	0.19226	N	0.119523	T	0.27798	0.0684	M	0.83852	2.665	0.80722	D	1	P	0.38370	0.628	B	0.42692	0.395	T	0.02813	-1.1107	10	0.62326	D	0.03	-28.043	9.2297	0.37430	0.0:0.1449:0.0:0.8551	.	51	Q9GZS0	DNAI2_HUMAN	N	51	ENSP00000308312:I51N;ENSP00000400252:I51N	ENSP00000308312:I51N	I	+	2	0	DNAI2	69789703	0.683000	0.27633	0.996000	0.52242	0.627000	0.37826	2.121000	0.41977	0.479000	0.27511	0.524000	0.50904	ATC		0.662	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		27	53	0	0	0	0.002096	0	27	53					A	72278108	T	A	72278108	3	1	89	1	0	0	0	0	1	0	0	0	4610	1435	50	5	154	5	DNAI2	17	72278108	Missense_Mutation	SNP	T	TCGA-DJ-A1QO-01A-11D-A14W-08		72278108	8917102	21	2004											
MN1	4330	broad.mit.edu	37	chr22	28194931	28194933	+	In_Frame_Del	DEL	TGT	TGT	-													gttgctgctgctgctgctgcTgttgctgctgctgctgctgc					rs572936881|rs373314940|rs71194738	byFrequency	TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr22:28194931_28194933delTGT	ENST00000302326.4	-	1	2553_2555	c.1599_1601delACA	c.(1597-1602)caacag>cag	p.533_534QQ>Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	533	Poly-Gln.				intramembranous ossification (GO:0001957)			p.Q550_R551insQ(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						ctgctgctgctgttgctgctgct	0.65			T	ETV6	"AML, meningioma"																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"L, O"	ETV6		"AML, meningioma"		1	Insertion - In frame(1)	p.Q550_R551insQ(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(1597-1602)cag>ca		meningioma (disrupted in balanced translocation) 1				87,42,3551|120,342,2806		22,1,42,7,27,1741|13,5,89,53,231,1243						0.1|-1.4	0.9|1.0		dbSNP_131|dbSNP_126	5|5	113,63,7304|314,526,5950		24,1,64,8,46,3597|13,4,284,58,406,2630	no|no	codingComplex|codingComplex	MN1|MN1	NM_002430.2|NM_002430.2		46,2,106,15,73,5338|26,9,373,111,637,3873	A1A1,A1A2,A1R,A2A2,A2R,RR|A1A1,A1A2,A1R,A2A2,A2R,RR		2.3529,3.5054,2.733|12.3711,14.1371,12.9449				200,105,10855|434,868,8756				SO:0001651	inframe_deletion	4330						binding	g.chr22:28194931_28194933delTGT	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1599_1601delACA	22.37:g.28194931_28194933delTGT	ENSP00000304956:p.Gln550del						p.QQ549del	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	2553_2555	-			549			Poly-Gln.		A9Z1V9	In_Frame_Del	DEL	ENST00000302326.4	37	c.1599_1601delACA	CCDS42998.1																																																																																				0.65	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		4	7						4	7	---	---	---	---	-	28194933	TGT	-	28194931	7	5	89	1	0	1	0	1	0	0	0	0	9673	1580	55	0	2369	0	MN1	22	28194931	In_Frame_Del	DEL	TGT	TCGA-DJ-A1QO-01A-11D-A14W-08		28194931	23109635	22	2005											
ZC3H11A	9877	broad.mit.edu	37	chr1	203818917	203818917	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccatgagagagaagcacatgCagaaacagcaggagagggaa	14	7	0	4			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr1:203818917C>G	ENST00000545588.1	+	14	5529	c.1702C>G	c.(1702-1704)Cag>Gag	p.Q568E	ZC3H11A_ENST00000332127.4_Missense_Mutation_p.Q568E|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.Q568E|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.Q568E|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.Q568E	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	568					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAAGCACATGCAGAAACAGCA	0.463																																						ENST00000545588.1																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1702-1704)Cag>Gag		zinc finger CCCH-type containing 11A							135	131	132					1																	203818917		2203	4300	6503	SO:0001583	missense	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203818917C>G		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"Zinc fingers, CCCH-type domain containing"	29093	protein-coding gene	gene with protein product		613513	"zinc finger CCCH-type domain containing 11A"	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.1702C>G	1.37:g.203818917C>G	ENSP00000438527:p.Gln568Glu					ZC3H11A_ENST00000332127.4_Missense_Mutation_p.Q568E|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.Q568E|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.Q568E|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.Q568E	p.Q568E	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		14	5529	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		568					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	ENST00000545588.1	37	c.1702C>G	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.398678	0.42512	.	.	ENSG00000058673	ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.59	5.59	0.84812	.	0.476535	0.23801	N	0.044433	T	0.38904	0.1058	M	0.65975	2.015	0.30268	N	0.792519	B	0.10296	0.003	B	0.10450	0.005	T	0.45600	-0.9250	10	0.02654	T	1	-21.2671	15.0946	0.72223	0.0:1.0:0.0:0.0	.	568	O75152	ZC11A_HUMAN	E	568;514;568;568;568;568	ENSP00000356183:Q568E;ENSP00000356181:Q568E;ENSP00000333253:Q568E;ENSP00000438527:Q568E;ENSP00000356179:Q568E	ENSP00000333253:Q568E	Q	+	1	0	ZC3H11A	202085540	0.984000	0.35163	0.150000	0.22450	0.870000	0.49936	2.972000	0.49256	2.642000	0.89623	0.561000	0.74099	CAG		0.463	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		74	104	0	0	0	0.048971	0	74	104					G	203818917	C	G	203818917	3	3	90	1	0	0	0	0	1	0	0	0	17557	711	25	4	1752	4	ZC3H11A	1	203818917	Missense_Mutation	SNP	C	TCGA-DJ-A1QQ-01A-11D-A14W-08		203818917	45431704	1	2006											
MBD5	55777	broad.mit.edu	37	chr2	149240876	149240876	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attttccatccaacagcactTcaaacaaccatcttccacac	1	16	2	0			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr2:149240876T>C	ENST00000407073.1	+	10	3713	c.2716T>C	c.(2716-2718)Tca>Cca	p.S906P	MBD5_ENST00000404807.1_Missense_Mutation_p.S906P	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	906					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CAACAGCACTTCAAACAACCA	0.483																																						ENST00000407073.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62						c.(2716-2718)Tca>Cca		methyl-CpG binding domain protein 5							281	259	267					2																	149240876		2203	4300	6503	SO:0001583	missense	0					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149240876T>C	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.2716T>C	2.37:g.149240876T>C	ENSP00000386049:p.Ser906Pro					MBD5_ENST00000404807.1_Missense_Mutation_p.S906P	p.S906P	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	10	3713	+			906					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.2716T>C	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	T	15.23	2.771008	0.49680	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.47869	0.83;0.85	5.66	3.27	0.37495	.	0.130057	0.35495	N	0.003175	T	0.24967	0.0606	N	0.14661	0.345	0.30641	N	0.756417	B	0.09022	0.002	B	0.06405	0.002	T	0.12708	-1.0537	10	0.21540	T	0.41	-3.5098	5.7946	0.18379	0.0:0.1402:0.1444:0.7154	.	906	Q9P267	MBD5_HUMAN	P	906	ENSP00000386049:S906P;ENSP00000384672:S906P	ENSP00000384672:S906P	S	+	1	0	MBD5	148957346	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.347000	0.33975	0.941000	0.37499	0.379000	0.24179	TCA		0.483	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			3	177	0	0	0	0.004672	0	3	177					C	149240876	T	C	149240876	3	2	90	1	0	0	0	0	1	0	0	0	9347	1783	62	3	2734	3	MBD5	2	149240876	Missense_Mutation	SNP	T	TCGA-DJ-A1QQ-01A-11D-A14W-08		149240876	93958497	2	2007											
SCN5A	6331	broad.mit.edu	37	chr3	38651439	38651439	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagactggatcagggccccCacgatggtcttcagccctgg	12	14	3	1			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr3:38651439C>T	ENST00000333535.4	-	7	869	c.720G>A	c.(718-720)gtG>gtA	p.V240V	SCN5A_ENST00000450102.2_Silent_p.V240V|SCN5A_ENST00000425664.1_Silent_p.V240V|SCN5A_ENST00000449557.2_Silent_p.V240V|SCN5A_ENST00000451551.2_Silent_p.V240V|SCN5A_ENST00000413689.1_Silent_p.V240V|SCN5A_ENST00000423572.2_Silent_p.V240V|SCN5A_ENST00000414099.2_Silent_p.V240V|SCN5A_ENST00000455624.2_Silent_p.V240V|SCN5A_ENST00000443581.1_Silent_p.V240V			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	240					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)	TCAGGGCCCCCACGATGGTCT	0.617																																						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.(718-720)gtG>gtA		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)						72	77	75					3																	38651439		2170	4281	6451	SO:0001819	synonymous_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.chr3:38651439C>T	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.720G>A	3.37:g.38651439C>T						SCN5A_ENST00000414099.2_Silent_p.V240V|SCN5A_ENST00000455624.2_Silent_p.V240V|SCN5A_ENST00000425664.1_Silent_p.V240V|SCN5A_ENST00000451551.2_Silent_p.V240V|SCN5A_ENST00000333535.4_Silent_p.V240V|SCN5A_ENST00000450102.2_Silent_p.V240V|SCN5A_ENST00000449557.2_Silent_p.V240V|SCN5A_ENST00000443581.1_Silent_p.V240V|SCN5A_ENST00000423572.2_Silent_p.V240V	p.V240V	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)	7	913	-	Medulloblastoma(35;0.163)		240					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	c.720G>A	CCDS46796.1																																																																																				0.617	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		17	54	0	0	0	0.028581	0	17	54					T	38651439	C	T	38651439	2	4	90	1	0	0	0	0	0	0	0	1	13922	581	21	2		2	SCN5A	3	38651439	Silent	SNP	C	TCGA-DJ-A1QQ-01A-11D-A14W-08		38651439	159370991	3	2008											
ALS2CL	259173	broad.mit.edu	37	chr3	46725278	46725278	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcacccacactcacctggccCtgggagtccttggcacaaaa	8	16	2	0			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr3:46725278C>G	ENST00000318962.4	-	9	989	c.906G>C	c.(904-906)caG>caC	p.Q302H	ALS2CL_ENST00000415953.1_Missense_Mutation_p.Q302H	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	302					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TCACCTGGCCCTGGGAGTCCT	0.602																																						ENST00000318962.4																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29						c.(904-906)caG>caC		ALS2 C-terminal like							139	141	140					3																	46725278		2203	4300	6503	SO:0001583	missense	259173				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr3:46725278C>G	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.906G>C	3.37:g.46725278C>G	ENSP00000313670:p.Gln302His					ALS2CL_ENST00000415953.1_Missense_Mutation_p.Q302H	p.Q302H	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	9	989	-			302					Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	ENST00000318962.4	37	c.906G>C	CCDS2743.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136915	0.37728	.	.	ENSG00000178038	ENST00000318962;ENST00000415953	T;T	0.57436	0.4;0.4	5.01	2.2	0.27929	.	0.000000	0.56097	D	0.000022	T	0.47838	0.1467	M	0.78049	2.395	0.80722	D	1	B	0.25521	0.128	B	0.23275	0.045	T	0.44034	-0.9354	10	0.62326	D	0.03	.	4.611	0.12402	0.0:0.5765:0.1608:0.2627	.	302	Q60I27	AL2CL_HUMAN	H	302	ENSP00000313670:Q302H;ENSP00000413223:Q302H	ENSP00000313670:Q302H	Q	-	3	2	ALS2CL	46700282	0.004000	0.15560	0.950000	0.38849	0.875000	0.50365	0.357000	0.20199	0.279000	0.22186	0.655000	0.94253	CAG		0.602	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129		11	203	0	0	0	0.09319	0	11	203					G	46725278	C	G	46725278	3	3	90	1	0	0	0	0	1	0	0	0	551	680	24	4	2027	4	ALS2CL	3	46725278	Missense_Mutation	SNP	C	TCGA-DJ-A1QQ-01A-11D-A14W-08	8073839	46725278	151297152	4	2009											
SLIT2	9353	broad.mit.edu	37	chr4	20555525	20555525	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcctggaattgctcgttgtGctggtcctggagaaatggca	14	8	0	1			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr4:20555525G>C	ENST00000504154.1	+	26	2911	c.2659G>C	c.(2659-2661)Gct>Cct	p.A887P	SLIT2_ENST00000273739.5_Missense_Mutation_p.A891P|SLIT2_ENST00000503837.1_Missense_Mutation_p.A883P|SLIT2_ENST00000503823.1_Missense_Mutation_p.A879P	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	887	LRRCT 4.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGCTCGTTGTGCTGGTCCTGG	0.408																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(2659-2661)Gct>Cct		slit homolog 2 (Drosophila)							139	131	134					4																	20555525		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20555525G>C	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2659G>C	4.37:g.20555525G>C	ENSP00000422591:p.Ala887Pro					SLIT2_ENST00000503823.1_Missense_Mutation_p.A879P|SLIT2_ENST00000503837.1_Missense_Mutation_p.A883P|SLIT2_ENST00000273739.5_Missense_Mutation_p.A891P	p.A887P	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			26	2911	+			887			LRRCT 4.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.2659G>C	CCDS3426.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.41|15.41	2.824174|2.824174	0.50739|0.50739	.|.	.|.	ENSG00000145147|ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000511508|ENST00000509941	D;D;D;D;D|D	0.90444|0.88896	-1.61;-1.63;-1.52;-1.58;-2.67|-2.44	5.13|5.13	4.27|4.27	0.50696|0.50696	Cysteine-rich flanking region, C-terminal (2);|.	0.220708|.	0.47455|.	D|.	0.000231|.	D|D	0.93216|0.93216	0.7839|0.7839	M|M	0.83223|0.83223	2.63|2.63	0.51482|0.51482	D|D	0.999923|0.999923	P;P|.	0.50943|.	0.916;0.94|.	P;P|.	0.56398|.	0.466;0.797|.	D|D	0.93801|0.93801	0.7101|0.7101	10|7	0.59425|0.87932	D|D	0.04|0	.|.	13.0085|13.0085	0.58718|0.58718	0.0:0.0:0.7062:0.2938|0.0:0.0:0.7062:0.2938	.|.	879;887|.	O94813-3;O94813|.	.;SLIT2_HUMAN|.	P|S	879;887;891;883;883;88|17	ENSP00000427548:A879P;ENSP00000422591:A887P;ENSP00000273739:A891P;ENSP00000422261:A883P;ENSP00000421975:A88P|ENSP00000425609:C17S	ENSP00000273739:A891P|ENSP00000425609:C17S	A|C	+|+	1|2	0|0	SLIT2|SLIT2	20164623|20164623	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.937000|0.937000	0.57800|0.57800	4.330000|4.330000	0.59266|0.59266	1.264000|1.264000	0.44198|0.44198	0.460000|0.460000	0.39030|0.39030	GCT|TGC		0.408	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			4	94	0	0	0	0.009096	0	4	94					C	20555525	G	C	20555525	3	2	90	1	0	0	0	0	1	0	0	0	14740	1319	46	4	2761	4	SLIT2	4	20555525	Missense_Mutation	SNP	G	TCGA-DJ-A1QQ-01A-11D-A14W-08		20555525	170598751	5	2010											
ADAMTS19	171019	broad.mit.edu	37	chr5	128956351	128956351	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atgaccacccatcgtgtgctGatggtcttcatatcatgtct	8	11	4	2			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr5:128956351G>C	ENST00000274487.4	+	9	1646	c.1501G>C	c.(1501-1503)Gat>Cat	p.D501H	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	501	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					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)		ATCGTGTGCTGATGGTCTTCA	0.358																																						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.(1501-1503)Gat>Cat		ADAM metallopeptidase with thrombospondin type 1 motif, 19							158	143	148					5																	128956351		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128956351G>C	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.1501G>C	5.37:g.128956351G>C	ENSP00000274487:p.Asp501His					CTC-575N7.1_ENST00000503616.1_RNA	p.D501H	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)	9	1646	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	501			Peptidase M12B.			Missense_Mutation	SNP	ENST00000274487.4	37	c.1501G>C	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156141	0.57259	.	.	ENSG00000145808	ENST00000274487	D	0.87179	-2.22	4.51	3.64	0.41730	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.214099	0.39544	N	0.001322	D	0.88727	0.6515	L	0.34521	1.04	0.45108	D	0.998123	D	0.89917	1.0	D	0.75484	0.986	D	0.87454	0.2403	9	.	.	.	.	13.731	0.62787	0.0758:0.0:0.9242:0.0	.	501	Q8TE59	ATS19_HUMAN	H	501	ENSP00000274487:D501H	.	D	+	1	0	ADAMTS19	128984250	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.384000	0.66225	1.493000	0.48517	-0.150000	0.13652	GAT		0.358	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		8	111	0	0	0	0.038147	0	8	111					C	128956351	G	C	128956351	3	2	90	1	0	0	0	0	1	0	0	0	264	1290	45	4	1535	4	ADAMTS19	5	128956351	Missense_Mutation	SNP	G	TCGA-DJ-A1QQ-01A-11D-A14W-08		128956351	51958909	6	2011											
CANX	821	broad.mit.edu	37	chr5	179150714	179150714	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagagcgcccgtggctgtgGgtagtctatattctaactgt	13	8	2	1			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr5:179150714G>T	ENST00000247461.4	+	12	1652	c.1452G>T	c.(1450-1452)tgG>tgT	p.W484C	CANX_ENST00000504734.1_Missense_Mutation_p.W484C|CANX_ENST00000415618.2_Missense_Mutation_p.W519C|CANX_ENST00000512607.2_Missense_Mutation_p.W376C|CANX_ENST00000452673.2_Missense_Mutation_p.W484C	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	484					aging (GO:0007568)|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)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Antihemophilic Factor(DB00025)|Tenecteplase(DB00031)	CGTGGCTGTGGGTAGTCTATA	0.458																																						ENST00000247461.4																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22						c.(1450-1452)tgG>tgT		calnexin	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)						145	144	144					5																	179150714		2203	4300	6503	SO:0001583	missense	821				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding	g.chr5:179150714G>T	L18887	CCDS4447.1	5q35	2008-07-18			ENSG00000127022	ENSG00000127022			1473	protein-coding gene	gene with protein product	"major histocompatibility complex class I antigen-binding protein p88"	114217				1326756, 8136357	Standard	NM_001746		Approved	CNX, IP90, P90	uc003mkl.3	P27824	OTTHUMG00000130910	ENST00000247461.4:c.1452G>T	5.37:g.179150714G>T	ENSP00000247461:p.Trp484Cys					CANX_ENST00000512607.2_Missense_Mutation_p.W376C|CANX_ENST00000452673.2_Missense_Mutation_p.W484C|CANX_ENST00000504734.1_Missense_Mutation_p.W484C|CANX_ENST00000415618.2_Missense_Mutation_p.W519C	p.W484C	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		12	1652	+	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	484					B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	Missense_Mutation	SNP	ENST00000247461.4	37	c.1452G>T	CCDS4447.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295543	0.60086	.	.	ENSG00000127022	ENST00000504734;ENST00000415618;ENST00000452673;ENST00000247461;ENST00000512607	T;T;T;T;T	0.59772	0.29;0.24;0.29;0.29;0.4	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.80798	0.4692	M	0.87971	2.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	T	0.82884	-0.0236	10	0.87932	D	0	-7.3823	19.8993	0.96980	0.0:0.0:1.0:0.0	.	519;484	B4DGP8;P27824	.;CALX_HUMAN	C	484;519;484;484;376	ENSP00000424063:W484C;ENSP00000394817:W519C;ENSP00000391646:W484C;ENSP00000247461:W484C;ENSP00000423588:W376C	ENSP00000247461:W484C	W	+	3	0	CANX	179083320	1.000000	0.71417	1.000000	0.80357	0.064000	0.16182	9.833000	0.99426	2.807000	0.96579	0.555000	0.69702	TGG		0.458	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253500.2	NM_001024649		32	80	1	0	5.90632e-09	0.050027	7.59384e-09	32	80					T	179150714	G	T	179150714	3	4	90	1	0	0	0	0	1	0	0	0	2618	1241	43	4	1494	4	CANX	5	179150714	Missense_Mutation	SNP	G	TCGA-DJ-A1QQ-01A-11D-A14W-08	50194363	179150714	1764546	7	2012											
VPS52	6293	broad.mit.edu	37	chr6	33232649	33232649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacagcaatggcatcgtagCagtcagctagataagaatcc	9	9	1	2			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr6:33232649C>T	ENST00000445902.2	-	13	1528	c.1310G>A	c.(1309-1311)tGc>tAc	p.C437Y	VPS52_ENST00000436044.2_Missense_Mutation_p.C312Y|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	437					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						GGCATCGTAGCAGTCAGCTAG	0.438																																						ENST00000445902.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1309-1311)tGc>tAc		vacuolar protein sorting 52 homolog (S. cerevisiae)							287	264	272					6																	33232649		1511	2709	4220	SO:0001583	missense	6293				protein transport	endosome membrane|Golgi apparatus		g.chr6:33232649C>T	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"SAC2 suppressor of actin mutations 2-like (yeast)", "vacuolar protein sorting 52 (yeast)"	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.1310G>A	6.37:g.33232649C>T	ENSP00000409952:p.Cys437Tyr					VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.C312Y	p.C437Y	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN			13	1528	-			437					A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Missense_Mutation	SNP	ENST00000445902.2	37	c.1310G>A	CCDS4770.2	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497897	0.85069	.	.	ENSG00000223501	ENST00000445902;ENST00000418054;ENST00000436044	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.73353	0.3576	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.99	T	0.68135	-0.5489	9	0.25106	T	0.35	-16.1158	16.6301	0.85031	0.0:1.0:0.0:0.0	.	248;437	B3KMF7;Q8N1B4	.;VPS52_HUMAN	Y	437;415;312	.	ENSP00000414785:C415Y	C	-	2	0	VPS52	33340627	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.293000	0.72731	2.875000	0.98604	0.643000	0.83706	TGC		0.438	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		11	212	0	0	0	0.069234	0	11	212					T	33232649	C	T	33232649	3	4	90	1	0	0	0	0	1	0	0	0	17211	710	25	2	893	2	VPS52	6	33232649	Missense_Mutation	SNP	C	TCGA-DJ-A1QQ-01A-11D-A14W-08		33232649	137882418	8	2013											
C6orf97	80129	broad.mit.edu	37	chr6	151914317	151914317	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgaacttggctttgacatgCggctggacgtggttttagct	13	9	0	1	rs550166524		TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr6:151914317C>T	ENST00000239374.7	+	8	1468	c.1369C>T	c.(1369-1371)Cgg>Tgg	p.R457W	CCDC170_ENST00000367290.5_Missense_Mutation_p.R457W	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	457								p.R457W(1)									CTTTGACATGCGGCTGGACGT	0.443																																						ENST00000367290.5																			1	Substitution - Missense(1)	p.R457W(1)	large_intestine(1)								c.(1369-1371)Cgg>Tgg		coiled-coil domain containing 170							105	97	99					6																	151914317		1915	4139	6054	SO:0001583	missense	80129							g.chr6:151914317C>T	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 97"	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1369C>T	6.37:g.151914317C>T	ENSP00000239374:p.Arg457Trp					CCDC170_ENST00000239374.7_Missense_Mutation_p.R457W	p.R457W			Q8IYT3	CF097_HUMAN			8	1458	+			457					Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	c.1369C>T	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262719	0.59431	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.09350	2.99;2.99	5.87	4.09	0.47781	.	0.277720	0.34777	N	0.003697	T	0.15262	0.0368	M	0.75447	2.3	0.42436	D	0.992693	D	0.76494	0.999	P	0.59221	0.854	T	0.01195	-1.1422	10	0.48119	T	0.1	-1.4138	9.9802	0.41809	0.29:0.643:0.0:0.0671	.	457	Q8IYT3	CF097_HUMAN	W	457	ENSP00000239374:R457W;ENSP00000356259:R457W	ENSP00000239374:R457W	R	+	1	2	C6orf97	151956010	1.000000	0.71417	1.000000	0.80357	0.448000	0.32197	1.863000	0.39459	0.927000	0.37143	-0.127000	0.14921	CGG		0.443	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		7	69	0	0	0	0.038147	0	7	69					T	151914317	C	T	151914317	3	4	90	1	0	0	0	0	1	0	0	0	2374	759	27	1	1399	1	C6orf97	6	151914317	Missense_Mutation	SNP	C	TCGA-DJ-A1QQ-01A-11D-A14W-08	118681668	151914317	19200750	9	2014											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		25	43	0	0	0	0.108266	0	25	43					T	140453136	A	T	140453136	3	4	90	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A1QQ-01A-11D-A14W-08		140453136	18685527	10	2015											
EPPK1	83481	broad.mit.edu	37	chr8	144940615	144940615	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggggtcgatgacgaagccGgtggccgcctgcgcctccag	16	14	0	1			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr8:144940615G>A	ENST00000525985.1	-	2	6878	c.6807C>T	c.(6805-6807)acC>acT	p.T2269T				P58107	EPIPL_HUMAN	epiplakin 1	2269						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGACGAAGCCGGTGGCCGCCT	0.716																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6805-6807)acC>acT		epiplakin 1							36	36	36					8																	144940615		2150	4233	6383	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940615G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6807C>T	8.37:g.144940615G>A							p.T2269T			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	6878	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2269					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.6807C>T																																																																																					0.716	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		4	39	0	0	0	0.009096	0	4	39					A	144940615	G	A	144940615	2	1	90	1	0	0	0	0	0	0	0	1	5190	1103	39	1		1	EPPK1	8	144940615	Silent	SNP	G	TCGA-DJ-A1QQ-01A-11D-A14W-08		144940615	1423407	11	2016											
TGFBR1	7046	broad.mit.edu	37	chr9	101908841	101908841	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcaaacgtgctgacatctAtgcaatgggcttagtattct	8	9	3	1			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr9:101908841A>G	ENST00000374994.4	+	7	1322	c.1205A>G	c.(1204-1206)tAt>tGt	p.Y402C	TGFBR1_ENST00000550253.1_Missense_Mutation_p.Y333C|TGFBR1_ENST00000374990.2_Missense_Mutation_p.Y325C|TGFBR1_ENST00000552516.1_Missense_Mutation_p.Y406C|RNA5SP290_ENST00000517133.1_RNA	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	402	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GCTGACATCTATGCAATGGGC	0.398																																						ENST00000374994.4																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27						c.(1204-1206)tAt>tGt		transforming growth factor, beta receptor 1							286	285	285					9																	101908841		2203	4300	6503	SO:0001583	missense	7046				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding	g.chr9:101908841A>G		CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"activin A receptor type II-like kinase, 53kDa"	190181	"transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)", "multiple self-healing squamous epithelioma"	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.1205A>G	9.37:g.101908841A>G	ENSP00000364133:p.Tyr402Cys					TGFBR1_ENST00000552516.1_Missense_Mutation_p.Y406C|TGFBR1_ENST00000550253.1_Missense_Mutation_p.Y333C|TGFBR1_ENST00000374990.2_Missense_Mutation_p.Y325C	p.Y402C	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN			7	1322	+		Acute lymphoblastic leukemia(62;0.0559)	402			Protein kinase.		Q6IR47|Q706C0|Q706C1	Missense_Mutation	SNP	ENST00000374994.4	37	c.1205A>G	CCDS6738.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.356282	0.82243	.	.	ENSG00000106799	ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000550253	D;D;D;D	0.95622	-3.76;-3.76;-3.76;-3.76	5.33	5.33	0.75918	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98785	0.9591	H	0.99130	4.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99353	1.0915	10	0.87932	D	0	.	14.5848	0.68317	1.0:0.0:0.0:0.0	.	325;402	P36897-3;P36897	.;TGFR1_HUMAN	C	402;364;325;406;333	ENSP00000364133:Y402C;ENSP00000364129:Y325C;ENSP00000447297:Y406C;ENSP00000450052:Y333C	ENSP00000364129:Y325C	Y	+	2	0	TGFBR1	100948662	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.284000	0.95882	2.142000	0.66516	0.383000	0.25322	TAT		0.398	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053390.3			4	310	0	0	0	0.009096	0	4	310					G	101908841	A	G	101908841	3	3	90	1	0	0	0	0	1	0	0	0	15818	449	16	3	1231	3	TGFBR1	9	101908841	Missense_Mutation	SNP	A	TCGA-DJ-A1QQ-01A-11D-A14W-08		101908841	39304590	12	2017											
ZNF503	84858	broad.mit.edu	37	chr10	77158996	77159007	+	In_Frame_Del	DEL	GGCCGTTAGCGA	GGCCGTTAGCGA	-													gtggcgccagcagccgcggcGgccgttagcgaggagtgcac					rs535700950	byFrequency	TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr10:77158996_77159007delGGCCGTTAGCGA	ENST00000372524.4	-	2	1927_1938	c.1441_1452delTCGCTAACGGCC	c.(1441-1452)tcgctaacggccdel	p.SLTA481del	ZNF503-AS2_ENST00000466942.2_RNA|RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503_ENST00000535216.1_In_Frame_Del_p.SLTA481del	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	481	Ala-rich.				G1 to G0 transition involved in cell differentiation (GO:0070315)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|neural precursor cell proliferation (GO:0061351)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					CAGCCGCGGCGGCCGTTAGCGAGGAGTGCACA	0.684																																						ENST00000372524.4																			0				lung(4)|ovary(1)|skin(1)	6						c.(1441-1452)del		zinc finger protein 503																																				SO:0001651	inframe_deletion	84858				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr10:77158996_77159007delGGCCGTTAGCGA	AK127647	CCDS7350.1	10q22.3	2011-02-09			ENSG00000165655	ENSG00000165655		"Zinc fingers, C2H2-type"	23589	protein-coding gene	gene with protein product		613902				12477932	Standard	NM_032772		Approved	FLJ45745, MGC2555	uc001jxg.3	Q96F45	OTTHUMG00000018526	ENST00000372524.4:c.1441_1452delTCGCTAACGGCC	10.37:g.77158996_77159007delGGCCGTTAGCGA	ENSP00000361602:p.Ser481_Ala484del					ZNF503_ENST00000535216.1_In_Frame_Del_p.SLTA481del|RP11-399K21.11_ENST00000418818.2_lincRNA	p.SLTA481del	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN			2	1927_1938	-	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)		481			Ala-rich.		Q8NAC5|Q96E25|Q96IJ0	In_Frame_Del	DEL	ENST00000372524.4	37	c.1441_1452delTCGCTAACGGCC	CCDS7350.1																																																																																				0.684	ZNF503-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048826.1	NM_032772		11	19						11	19	---	---	---	---	-	77159007	GGCCGTTAGCGA	-	77158996	7	5	90	1	0	1	0	1	0	0	0	0	17948	1103	39	0	492	0	ZNF503	10	77158996	In_Frame_Del	DEL	GGCCGTTAGCGA	TCGA-DJ-A1QQ-01A-11D-A14W-08		77158996	58375751	13	2018											
MMP3	4314	broad.mit.edu	37	chr11	102711322	102711322	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agcaacgagaaataaattggTccctatttaagaaattgaga	8	5	0	3			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr11:102711322T>A	ENST00000299855.5	-	5	884	c.628A>T	c.(628-630)Acc>Tcc	p.T210S		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	210					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	AATAAATTGGTCCCTATTTAA	0.388																																						ENST00000299855.5																			0				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(628-630)Acc>Tcc		matrix metallopeptidase 3 (stromelysin 1, progelatinase)	Marimastat(DB00786)|Simvastatin(DB00641)						75	75	75					11																	102711322		2203	4299	6502	SO:0001583	missense	4314				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102711322T>A	X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"matrix metalloproteinase 3 (stromelysin 1, progelatinase)"	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.628A>T	11.37:g.102711322T>A	ENSP00000299855:p.Thr210Ser						p.T210S	NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0142)	5	884	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	210					B2R8B8|Q3B7S0|Q6GRF8	Missense_Mutation	SNP	ENST00000299855.5	37	c.628A>T	CCDS8323.1	.	.	.	.	.	.	.	.	.	.	T	8.466	0.856497	0.17106	.	.	ENSG00000149968	ENST00000299855	T	0.21543	2.0	4.98	2.59	0.31030	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	1.216660	0.06490	N	0.734413	T	0.31104	0.0786	M	0.75615	2.305	0.09310	N	1	B	0.26147	0.143	B	0.33620	0.167	T	0.38607	-0.9653	10	0.54805	T	0.06	.	8.9501	0.35783	0.0:0.2817:0.0:0.7183	.	210	P08254	MMP3_HUMAN	S	210	ENSP00000299855:T210S	ENSP00000299855:T210S	T	-	1	0	MMP3	102216532	0.000000	0.05858	0.950000	0.38849	0.294000	0.27393	0.031000	0.13710	0.937000	0.37394	-0.370000	0.07254	ACC		0.388	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109758.2	NM_002422		18	48	0	0	0	0.038395	0	18	48					A	102711322	T	A	102711322	3	1	90	1	0	0	0	0	1	0	0	0	9666	1667	58	5	829	5	MMP3	11	102711322	Missense_Mutation	SNP	T	TCGA-DJ-A1QQ-01A-11D-A14W-08		102711322	32295194	14	2019											
MYO9A	4649	broad.mit.edu	37	chr15	72190581	72190581	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggtcttgttgggggatataAaaaaaagtaggtagactatt	13	2	1	1			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr15:72190581A>T	ENST00000356056.5	-	25	4735	c.4263T>A	c.(4261-4263)ttT>ttA	p.F1421L	MYO9A_ENST00000566885.1_Missense_Mutation_p.F1041L|MYO9A_ENST00000424560.1_Missense_Mutation_p.F1421L|MYO9A_ENST00000444904.1_Missense_Mutation_p.F1402L|MYO9A_ENST00000564571.1_Missense_Mutation_p.F1421L|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1421	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GGGGGATATAAAAAAAAGTAG	0.398																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(4261-4263)ttT>ttA		myosin IXA							63	64	63					15																	72190581		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72190581A>T	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.4263T>A	15.37:g.72190581A>T	ENSP00000348349:p.Phe1421Leu					MYO9A_ENST00000444904.1_Missense_Mutation_p.F1402L|MYO9A_ENST00000564571.1_Missense_Mutation_p.F1421L|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.F1421L|MYO9A_ENST00000566885.1_Missense_Mutation_p.F1041L	p.F1421L	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			25	4735	-			1421			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.4263T>A	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	A	16.40	3.111342	0.56398	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.84070	-1.8;-1.8;-1.8	5.82	3.51	0.40186	.	.	.	.	.	D	0.83704	0.5312	L	0.43152	1.355	0.35150	D	0.76972	P;D;B	0.76494	0.89;0.999;0.278	B;D;B	0.68765	0.389;0.96;0.084	T	0.82606	-0.0374	9	0.25751	T	0.34	.	6.0857	0.19966	0.7161:0.0:0.2839:0.0	.	1402;1421;1421	B2RTY4-2;B2RTY4-4;B2RTY4	.;.;MYO9A_HUMAN	L	1421;1421;1402	ENSP00000348349:F1421L;ENSP00000399162:F1421L;ENSP00000398250:F1402L	ENSP00000348349:F1421L	F	-	3	2	MYO9A	69977635	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	2.439000	0.44846	1.042000	0.40150	0.528000	0.53228	TTT		0.398	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		35	39	0	0	0	0.064281	0	35	39					T	72190581	A	T	72190581	3	4	90	1	0	0	0	0	1	0	0	0	10084	11	1	5	3455	5	MYO9A	15	72190581	Missense_Mutation	SNP	A	TCGA-DJ-A1QQ-01A-11D-A14W-08		72190581	30340811	15	2020											
PPL	5493	broad.mit.edu	37	chr16	4934851	4934851	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcctttttcagctggtagaTctctaaatcacacctttcga	5	11	3	1			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr16:4934851T>C	ENST00000345988.2	-	22	3894	c.3805A>G	c.(3805-3807)Atc>Gtc	p.I1269V	PPL_ENST00000590782.2_Missense_Mutation_p.I1267V	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1269					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						AGCTGGTAGATCTCTAAATCA	0.507																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(3805-3807)Atc>Gtc		periplakin							186	182	184					16																	4934851		2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4934851T>C	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3805A>G	16.37:g.4934851T>C	ENSP00000340510:p.Ile1269Val					PPL_ENST00000590782.2_Missense_Mutation_p.I1267V	p.I1269V	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			22	3894	-			1269					O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.3805A>G	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	t	11.01	1.514285	0.27123	.	.	ENSG00000118898	ENST00000345988	T	0.40756	1.02	5.62	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.33904	0.0879	L	0.41824	1.3	0.38881	D	0.95691	B	0.09022	0.002	B	0.12837	0.008	T	0.11792	-1.0573	10	0.32370	T	0.25	.	11.7088	0.51612	0.0:0.0698:0.0:0.9302	.	1269	O60437	PEPL_HUMAN	V	1269	ENSP00000340510:I1269V	ENSP00000340510:I1269V	I	-	1	0	PPL	4874852	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	3.372000	0.52387	0.940000	0.37473	0.529000	0.55759	ATC		0.507	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		10	168	0	0	0	0.069234	0	10	168					C	4934851	T	C	4934851	3	2	90	1	0	0	0	0	1	0	0	0	12334	1435	50	3	1469	3	PPL	16	4934851	Missense_Mutation	SNP	T	TCGA-DJ-A1QQ-01A-11D-A14W-08		4934851	85419902	16	2021											
PKD1L2	114780	broad.mit.edu	37	chr16	81232604	81232604	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagattgtacggtagcgaGcccttttgggtggtggactc	14	8	1	1			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr16:81232604G>A	ENST00000525539.1	-	0	1205				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACGGTAGCGAGCCCTTTTGGG	0.532																																						ENST00000599697.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1204-1206)ggC>ggT		polycystic kidney disease 1-like 2							91	92	92					16																	81232604		1943	4151	6094			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81232604G>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81232604G>A						PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA	p.G402G			Q7Z442	PK1L2_HUMAN			7	1205	-			402					Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000525539.1	37	c.1206C>T																																																																																					0.532	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			38	56	0	0	0	0.080422	0	38	56					A	81232604	G	A	81232604	1	1	90	0	1	0	0	0	0	0	0	0	11965	958	34	2		2	PKD1L2	16	81232604	RNA	SNP	G	TCGA-DJ-A1QQ-01A-11D-A14W-08	76297753	81232604	9122149	17	2022											
AMAC1	146861	broad.mit.edu	37	chr17	33520516	33520516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccttggtgaccgcatagcCcacacatgtgaaggagacca	12	12	0	3			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr17:33520516C>T	ENST00000297307.5	-	1	896	c.811G>A	c.(811-813)Ggc>Agc	p.G271S	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	271						integral component of membrane (GO:0016021)											ACCGCATAGCCCACACATGTG	0.587																																						ENST00000297307.5																			0											c.(811-813)Ggc>Agc		solute carrier family 35, member G3							142	130	134					17																	33520516		2203	4298	6501	SO:0001583	missense	146861					integral to membrane		g.chr17:33520516C>T	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"Solute carriers"	26848	protein-coding gene	gene with protein product			"transmembrane protein 21A", "acyl-malonyl condensing enzyme 1"	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.811G>A	17.37:g.33520516C>T	ENSP00000297307:p.Gly271Ser						p.G271S	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	896	-			271					B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.811G>A	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	C	0.082	-1.182646	0.01620	.	.	ENSG00000164729	ENST00000297307	T	0.48836	0.8	.	.	.	.	0.000000	0.53938	N	0.000059	T	0.10465	0.0256	N	0.00538	-1.39	0.19575	N	0.999968	B	0.02656	0.0	B	0.04013	0.001	T	0.28202	-1.0051	9	0.07325	T	0.83	-2.9278	2.8356	0.05513	0.4983:0.5012:2.0E-4:3.0E-4	.	271	Q8N808	S35G3_HUMAN	S	271	ENSP00000297307:G271S	ENSP00000297307:G271S	G	-	1	0	SLC35G3	30544629	0.891000	0.30450	0.149000	0.22428	0.149000	0.21700	-0.295000	0.08298	0.064000	0.16427	0.064000	0.15345	GGC		0.587	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		4	137	0	0	0	0.009096	0	4	137					T	33520516	C	T	33520516	3	4	90	1	0	0	0	0	1	0	0	0	559	623	22	2	209	2	AMAC1	17	33520516	Missense_Mutation	SNP	C	TCGA-DJ-A1QQ-01A-11D-A14W-08		33520516	47674694	18	2023											
CACNB1	782	broad.mit.edu	37	chr17	37333711	37333711	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggtgtgtggccttccaAtaggcttccaagtactccgc	13	12	0	0			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr17:37333711A>G	ENST00000394303.3	-	13	1431	c.1224T>C	c.(1222-1224)taT>taC	p.Y408Y	RP5-906A24.2_ENST00000579256.1_RNA|CACNB1_ENST00000344140.5_Silent_p.Y453Y|CACNB1_ENST00000394310.3_Silent_p.Y408Y	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	408					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TGGCCTTCCAATAGGCTTCCA	0.612																																					Esophageal Squamous(5;100 366 38393 41452 45827)	ENST00000394303.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						c.(1222-1224)taT>taC		calcium channel, voltage-dependent, beta 1 subunit	Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)						70	60	64					17																	37333711		2203	4300	6503	SO:0001819	synonymous_variant	782				axon guidance	voltage-gated calcium channel complex		g.chr17:37333711A>G		CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"Calcium channel subunits"	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.1224T>C	17.37:g.37333711A>G						RP5-906A24.2_ENST00000579256.1_RNA|CACNB1_ENST00000394310.3_Silent_p.Y408Y|CACNB1_ENST00000344140.5_Silent_p.Y453Y	p.Y408Y	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN			13	1431	-			408					A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Silent	SNP	ENST00000394303.3	37	c.1224T>C	CCDS42311.1																																																																																				0.612	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256945.3			11	17	0	0	0	0.09319	0	11	17					G	37333711	A	G	37333711	2	3	90	1	0	0	0	0	0	0	0	1	2552	108	4	3		3	CACNB1	17	37333711	Silent	SNP	A	TCGA-DJ-A1QQ-01A-11D-A14W-08	3813195	37333711	43861499	19	2024											
OR7G3	390883	broad.mit.edu	37	chr19	9236922	9236922	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagatggaaaaagctttAtactttccaccagctgatgg	9	10	0	2			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr19:9236922A>G	ENST00000305444.2	-	1	704	c.705T>C	c.(703-705)taT>taC	p.Y235Y		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	235						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)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						AAAAAGCTTTATACTTTCCAC	0.448																																						ENST00000305444.2																			0				NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(703-705)taT>taC		olfactory receptor, family 7, subfamily G, member 3							99	103	102					19																	9236922		2203	4300	6503	SO:0001819	synonymous_variant	390883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9236922A>G		CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920		"GPCR / Class A : Olfactory receptors"	8467	protein-coding gene	gene with protein product							Standard	NM_001001958		Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.705T>C	19.37:g.9236922A>G							p.Y235Y	NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN			1	704	-			235					Q6IFJ6|Q96R99	Silent	SNP	ENST00000305444.2	37	c.705T>C	CCDS32899.1																																																																																				0.448	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384611.1			27	140	0	0	0	0.037714	0	27	140					G	9236922	A	G	9236922	2	3	90	1	0	0	0	0	0	0	0	1	11224	456	16	3		3	OR7G3	19	9236922	Silent	SNP	A	TCGA-DJ-A1QQ-01A-11D-A14W-08		9236922	49892061	20	2025											
LRRC7	57554	broad.mit.edu	37	chr1	70505355	70505355	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taactatggtgacaagccatCagataacagtgatttaaaga	8	6	1	4			TCGA-DJ-A2PN-01A-21D-A19J-08	TCGA-DJ-A2PN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21790cd9-ca3e-4af4-bd4d-cba0375dbe9b	8be82b32-7274-49fe-a25d-25f462b502c0	g.chr1:70505355C>T	ENST00000035383.5	+	19	3764	c.3734C>T	c.(3733-3735)tCa>tTa	p.S1245L	LRRC7_ENST00000415775.2_Missense_Mutation_p.S529L|LRRC7_ENST00000310961.5_Missense_Mutation_p.S1250L	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1245						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GACAAGCCATCAGATAACAGT	0.463																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(3748-3750)tCa>tTa		leucine rich repeat containing 7							93	88	90					1																	70505355		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70505355C>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.3734C>T	1.37:g.70505355C>T	ENSP00000035383:p.Ser1245Leu					LRRC7_ENST00000415775.2_Missense_Mutation_p.S529L|LRRC7_ENST00000035383.5_Missense_Mutation_p.S1245L	p.S1250L			Q96NW7	LRRC7_HUMAN			22	4167	+			1245					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.3749C>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.400609	0.25291	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.39592	1.07;1.14;2.24	6.16	6.16	0.99307	.	0.208186	0.42682	D	0.000663	T	0.14399	0.0348	N	0.14661	0.345	0.41312	D	0.987116	B;B;P	0.35077	0.089;0.161;0.483	B;B;B	0.26969	0.075;0.053;0.057	T	0.07966	-1.0745	10	0.72032	D	0.01	.	13.0629	0.59018	0.0:0.9276:0.0:0.0724	.	529;1245;1245	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	L	1250;1245;529;1068	ENSP00000309245:S1250L;ENSP00000035383:S1245L;ENSP00000394867:S529L	ENSP00000035383:S1245L	S	+	2	0	LRRC7	70277943	1.000000	0.71417	1.000000	0.80357	0.005000	0.04900	5.677000	0.68142	2.937000	0.99478	0.650000	0.86243	TCA		0.463	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		31	32	0	0	0	1	0	31	32					T	70505355	C	T	70505355	3	4	91	1	0	0	0	0	1	0	0	0	9020	838	29	2	3808	2	LRRC7	1	70505355	Missense_Mutation	SNP	C	TCGA-DJ-A2PN-01A-21D-A19J-08		70505355	178745266	1	2026											
VGLL3	389136	broad.mit.edu	37	chr3	87017871	87017871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggagcaggaatcctggccGcatgcactgaaggcatcagc	15	11	1	1	rs368641887	byFrequency	TCGA-DJ-A2PN-01A-21D-A19J-08	TCGA-DJ-A2PN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21790cd9-ca3e-4af4-bd4d-cba0375dbe9b	8be82b32-7274-49fe-a25d-25f462b502c0	g.chr3:87017871G>A	ENST00000398399.2	-	3	1169	c.806C>T	c.(805-807)gCg>gTg	p.A269V	VGLL3_ENST00000383698.3_Missense_Mutation_p.A269V	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		AATCCTGGCCGCATGCACTGA	0.572													G|||	3	0.000599042	0	0	5008	,	,		17341	0		0	False		,,,				2504	0.0031					ENST00000398399.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19						c.(805-807)gCg>gTg		vestigial like 3 (Drosophila)		G	VAL/ALA	0,4276		0,0,2138	69	70	70		806	5.7	0.5	3		70	1,8499		0,1,4249	no	missense	VGLL3	NM_016206.2	64	0,1,6387	AA,AG,GG		0.0118,0.0,0.0078	possibly-damaging	269/327	87017871	1,12775	2138	4250	6388	SO:0001583	missense	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87017871G>A	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"vestigial like 3 (Drosophila)"			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.806C>T	3.37:g.87017871G>A	ENSP00000381436:p.Ala269Val					VGLL3_ENST00000383698.3_Missense_Mutation_p.A269V	p.A269V	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	3	1169	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	269						Missense_Mutation	SNP	ENST00000398399.2	37	c.806C>T	CCDS43110.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945134	0.73672	0.0	1.18E-4	ENSG00000206538	ENST00000398399;ENST00000383698	T;T	0.52754	0.82;0.65	5.71	5.71	0.89125	.	0.486738	0.20579	N	0.089580	T	0.44953	0.1318	L	0.54323	1.7	0.47949	D	0.99955	P	0.45428	0.858	B	0.35655	0.207	T	0.48917	-0.8992	10	0.45353	T	0.12	-0.046	19.446	0.94847	0.0:0.0:1.0:0.0	.	269	A8MV65	VGLL3_HUMAN	V	269	ENSP00000381436:A269V;ENSP00000373199:A269V	ENSP00000373199:A269V	A	-	2	0	VGLL3	87100561	0.956000	0.32656	0.475000	0.27278	0.820000	0.46376	6.223000	0.72257	2.709000	0.92574	0.561000	0.74099	GCG		0.572	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		3	20	0	0	0	1	0	3	20					A	87017871	G	A	87017871	3	1	91	1	0	0	0	0	1	0	0	0	17157	1087	38	1	182	1	VGLL3	3	87017871	Missense_Mutation	SNP	G	TCGA-DJ-A2PN-01A-21D-A19J-08		87017871	111004559	2	2027											
MTMR12	54545	broad.mit.edu	37	chr5	32239191	32239191	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cactccttttggatgaggctCtggaaaccaattctggttct	9	10	3	1			TCGA-DJ-A2PN-01A-21D-A19J-08	TCGA-DJ-A2PN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21790cd9-ca3e-4af4-bd4d-cba0375dbe9b	8be82b32-7274-49fe-a25d-25f462b502c0	g.chr5:32239191C>G	ENST00000382142.3	-	13	1430	c.1260G>C	c.(1258-1260)caG>caC	p.Q420H	MTMR12_ENST00000280285.5_Missense_Mutation_p.Q420H|MTMR12_ENST00000264934.5_Missense_Mutation_p.Q420H	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	420	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GGATGAGGCTCTGGAAACCAA	0.542																																						ENST00000382142.3																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(1258-1260)caG>caC		myotubularin related protein 12							90	79	83					5																	32239191		2203	4300	6503	SO:0001583	missense	54545					cytoplasm	phosphatase activity	g.chr5:32239191C>G	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	18191	protein-coding gene	gene with protein product		606501	"phosphatidylinositol-3-phosphate associated protein"	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.1260G>C	5.37:g.32239191C>G	ENSP00000371577:p.Gln420His					MTMR12_ENST00000280285.5_Missense_Mutation_p.Q420H|MTMR12_ENST00000264934.5_Missense_Mutation_p.Q420H	p.Q420H	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN			13	1430	-			420			Myotubularin phosphatase.		Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	ENST00000382142.3	37	c.1260G>C	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513714	0.85389	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	D;D;D	0.91124	-2.79;-2.79;-2.79	5.54	4.67	0.58626	Myotubularin phosphatase domain (1);	0.000000	0.85682	D	0.000000	D	0.96103	0.8730	M	0.90922	3.16	0.58432	D	0.999999	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.91635	0.994;0.998;0.999	D	0.96912	0.9668	10	0.87932	D	0	.	14.5658	0.68176	0.0:0.9293:0.0:0.0707	.	420;420;420	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	H	420	ENSP00000280285:Q420H;ENSP00000371577:Q420H;ENSP00000264934:Q420H	ENSP00000264934:Q420H	Q	-	3	2	MTMR12	32274948	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.696000	0.68287	1.460000	0.47911	0.563000	0.77884	CAG		0.542	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061		4	39	0	0	0	1	0	4	39					G	32239191	C	G	32239191	3	3	91	1	0	0	0	0	1	0	0	0	9941	912	32	4	999	4	MTMR12	5	32239191	Missense_Mutation	SNP	C	TCGA-DJ-A2PN-01A-21D-A19J-08		32239191	148676069	3	2028											
HEATR2	54919	broad.mit.edu	37	chr7	780548	780548	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagctcatccctctgctgctCagtagcctcaacgacgaggt	9	14	4	0			TCGA-DJ-A2PN-01A-21D-A19J-08	TCGA-DJ-A2PN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21790cd9-ca3e-4af4-bd4d-cba0375dbe9b	8be82b32-7274-49fe-a25d-25f462b502c0	g.chr7:780548C>T	ENST00000297440.6	+	3	893	c.873C>T	c.(871-873)ctC>ctT	p.L291L	HEATR2_ENST00000438961.1_3'UTR|HEATR2_ENST00000313147.5_Silent_p.L291L	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	291						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CTCTGCTGCTCAGTAGCCTCA	0.627																																						ENST00000297440.6																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22						c.(871-873)ctC>ctT		HEAT repeat containing 2							147	125	133					7																	780548		2203	4300	6503	SO:0001819	synonymous_variant	54919						protein binding	g.chr7:780548C>T	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.873C>T	7.37:g.780548C>T						HEATR2_ENST00000438961.1_3'UTR|HEATR2_ENST00000313147.5_Silent_p.L291L	p.L291L	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)	3	893	+		Ovarian(82;0.0112)	291					Q69YL1|Q96FI9|Q9NX75	Silent	SNP	ENST00000297440.6	37	c.873C>T	CCDS34580.1	.	.	.	.	.	.	.	.	.	.	C	1.576	-0.532850	0.04112	.	.	ENSG00000164818	ENST00000437419;ENST00000440747	.	.	.	4.67	-2.58	0.06228	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-24.8395	7.7647	0.28972	0.067:0.5079:0.2505:0.1746	.	.	.	.	X	64;93	.	.	Q	+	1	0	HEATR2	747074	1.000000	0.71417	0.929000	0.37066	0.079000	0.17450	0.384000	0.20668	-0.486000	0.06744	-0.165000	0.13383	CAG		0.627	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	NM_017802		7	94	0	0	0	1	0	7	94					T	780548	C	T	780548	2	4	91	1	0	0	0	0	0	0	0	1	7028	813	29	2		2	HEATR2	7	780548	Silent	SNP	C	TCGA-DJ-A2PN-01A-21D-A19J-08		780548	158358115	4	2029											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A2PN-01A-21D-A19J-08	TCGA-DJ-A2PN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21790cd9-ca3e-4af4-bd4d-cba0375dbe9b	8be82b32-7274-49fe-a25d-25f462b502c0	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		28	47	0	0	0	1	0	28	47					T	140453136	A	T	140453136	3	4	91	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2PN-01A-21D-A19J-08	139672588	140453136	18685527	5	2030											
PDP1	54704	broad.mit.edu	37	chr8	94935010	94935010	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctctaattaatgccttcaaGaggcttgataatgacatctc	7	9	3	3			TCGA-DJ-A2PN-01A-21D-A19J-08	TCGA-DJ-A2PN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21790cd9-ca3e-4af4-bd4d-cba0375dbe9b	8be82b32-7274-49fe-a25d-25f462b502c0	g.chr8:94935010G>A	ENST00000297598.4	+	2	992	c.723G>A	c.(721-723)aaG>aaA	p.K241K	PDP1_ENST00000520728.1_Silent_p.K241K|PDP1_ENST00000517764.1_Silent_p.K241K|PDP1_ENST00000396200.3_Silent_p.K266K	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	241					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						ATGCCTTCAAGAGGCTTGATA	0.443																																						ENST00000396200.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						c.(796-798)aaG>aaA		pyruvate dehyrogenase phosphatase catalytic subunit 1							121	122	122					8																	94935010		2203	4300	6503	SO:0001819	synonymous_variant	54704				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity	g.chr8:94935010G>A	AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9279	protein-coding gene	gene with protein product		605993	"protein phosphatase 2C, magnesium-dependent, catalytic subunit"	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.723G>A	8.37:g.94935010G>A						PDP1_ENST00000517764.1_Silent_p.K241K|PDP1_ENST00000520728.1_Silent_p.K241K|PDP1_ENST00000297598.4_Silent_p.K241K	p.K266K	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN			3	1074	+			241					B3KX71|J3KPU0|Q5U5K1	Silent	SNP	ENST00000297598.4	37	c.798G>A	CCDS6259.1																																																																																				0.443	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2	NM_018444		40	53	0	0	0	1	0	40	53					A	94935010	G	A	94935010	2	1	91	1	0	0	0	0	0	0	0	1	11685	933	33	2		2	PDP1	8	94935010	Silent	SNP	G	TCGA-DJ-A2PN-01A-21D-A19J-08		94935010	51429012	6	2031											
PIBF1	10464	broad.mit.edu	37	chr13	73468026	73468026	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgttcaacttctgcaagaggAaacagcaagaaatctcacac	7	10	3	2			TCGA-DJ-A2PN-01A-21D-A19J-08	TCGA-DJ-A2PN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21790cd9-ca3e-4af4-bd4d-cba0375dbe9b	8be82b32-7274-49fe-a25d-25f462b502c0	g.chr13:73468026A>T	ENST00000326291.6	+	11	1765	c.1427A>T	c.(1426-1428)gAa>gTa	p.E476V		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	476						centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		CTGCAAGAGGAAACAGCAAGA	0.338																																						ENST00000326291.6																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(1426-1428)gAa>gTa		progesterone immunomodulatory binding factor 1							92	92	92					13																	73468026		2203	4300	6503	SO:0001583	missense	10464					centrosome		g.chr13:73468026A>T	AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"progesterone-induced blocking factor 1"	607532	"chromosome 13 open reading frame 24"	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.1427A>T	13.37:g.73468026A>T	ENSP00000317144:p.Glu476Val						p.E476V	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN		GBM - Glioblastoma multiforme(99;0.000664)	11	1765	+		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)	476					O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Missense_Mutation	SNP	ENST00000326291.6	37	c.1427A>T	CCDS31991.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.167539	0.78339	.	.	ENSG00000083535	ENST00000326291	T	0.44482	0.92	5.0	5.0	0.66597	.	0.050253	0.85682	D	0.000000	T	0.62877	0.2464	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.66933	-0.5798	10	0.72032	D	0.01	-19.6889	14.9973	0.71443	1.0:0.0:0.0:0.0	.	476;476	Q8WXW3;Q4G0R1	PIBF1_HUMAN;.	V	476	ENSP00000317144:E476V	ENSP00000317144:E476V	E	+	2	0	PIBF1	72366027	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	6.237000	0.72345	2.005000	0.58758	0.528000	0.53228	GAA		0.338	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346		27	32	0	0	0	1	0	27	32					T	73468026	A	T	73468026	3	4	91	1	0	0	0	0	1	0	0	0	11879	246	9	5	1465	5	PIBF1	13	73468026	Missense_Mutation	SNP	A	TCGA-DJ-A2PN-01A-21D-A19J-08		73468026	41701852	7	2032											
SLC8A2	6543	broad.mit.edu	37	chr19	47935698	47935698	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtcctcctcctcctcctcGtcccctgtgggcacacgacc	7	22	0	0			TCGA-DJ-A2PN-01A-21D-A19J-08	TCGA-DJ-A2PN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21790cd9-ca3e-4af4-bd4d-cba0375dbe9b	8be82b32-7274-49fe-a25d-25f462b502c0	g.chr19:47935698G>A	ENST00000236877.6	-	9	2510	c.2115C>T	c.(2113-2115)gaC>gaT	p.D705D	SLC8A2_ENST00000542837.1_Silent_p.D461D|SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000539381.1_Silent_p.D168D	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	705					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCTCCTCCTCGTCCCCTGTGG	0.592																																						ENST00000236877.6																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31						c.(2113-2115)gaC>gaT		solute carrier family 8 (sodium/calcium exchanger), member 2							63	66	65					19																	47935698		2203	4300	6503	SO:0001819	synonymous_variant	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47935698G>A	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"Solute carriers"	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.2115C>T	19.37:g.47935698G>A						SLC8A2_ENST00000539381.1_Silent_p.D168D|SLC8A2_ENST00000542837.1_Silent_p.D461D|SLC8A2_ENST00000601757.1_5'UTR	p.D705D	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	9	2510	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	705					B4DYQ9	Silent	SNP	ENST00000236877.6	37	c.2115C>T	CCDS33065.1																																																																																				0.592	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			5	82	0	0	0	1	0	5	82					A	47935698	G	A	47935698	2	1	91	1	0	0	0	0	0	0	0	1	14707	1136	40	1		1	SLC8A2	19	47935698	Silent	SNP	G	TCGA-DJ-A2PN-01A-21D-A19J-08		47935698	11193285	8	2033											
VPS13D	55187	broad.mit.edu	37	chr1	12416017	12416017	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	attccacctggaacccaaaaCtatatggtgagaatgcgact	8	10	0	1			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr1:12416017C>G	ENST00000358136.3	+	48	9871	c.9741C>G	c.(9739-9741)aaC>aaG	p.N3247K	VPS13D_ENST00000356315.4_Missense_Mutation_p.N3222K	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)		GAACCCAAAACTATATGGTGA	0.438																																						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.(9739-9741)aaC>aaG		vacuolar protein sorting 13 homolog D (S. cerevisiae)							105	98	100					1																	12416017		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12416017C>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.9741C>G	1.37:g.12416017C>G	ENSP00000350854:p.Asn3247Lys					VPS13D_ENST00000356315.4_Missense_Mutation_p.N3222K	p.N3247K	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)	48	9871	+	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)	3246						Missense_Mutation	SNP	ENST00000358136.3	37	c.9741C>G	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.0|24.0	4.481464|4.481464	0.84747|0.84747	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|.	0.53206|.	0.63;0.63|.	5.89|5.89	4.99|4.99	0.66335|0.66335	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59018|0.59018	0.2163|0.2163	L|L	0.39898|0.39898	1.24|1.24	0.80722|0.80722	D|D	1|1	P;P|.	0.48834|.	0.916;0.863|.	P;B|.	0.46362|.	0.514;0.428|.	T|T	0.55927|0.55927	-0.8063|-0.8063	10|5	0.22109|.	T|.	0.4|.	.|.	15.0319|15.0319	0.71713|0.71713	0.0:0.932:0.0:0.068|0.0:0.932:0.0:0.068	.|.	3222;3246|.	Q5THJ4-2;Q5THJ4|.	.;VP13D_HUMAN|.	K|S	3222;3247|2069	ENSP00000348666:N3222K;ENSP00000350854:N3247K|.	ENSP00000348666:N3222K|.	N|T	+|+	3|2	2|0	VPS13D|VPS13D	12338604|12338604	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.754000|5.754000	0.68743|0.68743	1.505000|1.505000	0.48720|0.48720	0.655000|0.655000	0.94253|0.94253	AAC|ACT		0.438	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		5	125	0	0	0	1	0	5	125					G	12416017	C	G	12416017	3	3	92	1	0	0	0	0	1	0	0	0	17189	564	20	4	9927	4	VPS13D	1	12416017	Missense_Mutation	SNP	C	TCGA-DJ-A2PO-01A-21D-A19J-08		12416017	236834604	1	2034											
ADAM15	8751	broad.mit.edu	37	chr1	155026852	155026852	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaggggcctggggaccttcAgggtcctcccattatttcgc	13	13	1	0			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr1:155026852A>G	ENST00000356955.2	+	6	583	c.482A>G	c.(481-483)cAg>cGg	p.Q161R	ADAM15_ENST00000271836.6_Missense_Mutation_p.Q161R|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000531455.1_Missense_Mutation_p.Q171R|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000359280.4_Missense_Mutation_p.Q161R|ADAM15_ENST00000355956.2_Missense_Mutation_p.Q161R|ADAM15_ENST00000449910.2_Missense_Mutation_p.Q161R|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000360674.4_Missense_Mutation_p.Q161R|ADAM15_ENST00000447332.3_Missense_Mutation_p.Q145R|ADAM15_ENST00000368412.3_Missense_Mutation_p.Q161R	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	161					angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GGGGACCTTCAGGGTCCTCCC	0.547																																						ENST00000356955.2																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39						c.(481-483)cAg>cGg		ADAM metallopeptidase domain 15							53	60	58					1																	155026852		2203	4300	6503	SO:0001583	missense	8751				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr1:155026852A>G	U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"ADAM metallopeptidase domain containing"	193	protein-coding gene	gene with protein product	"metargidin"	605548	"a disintegrin and metalloproteinase domain 15 (metargidin)"			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.482A>G	1.37:g.155026852A>G	ENSP00000349436:p.Gln161Arg					ADAM15_ENST00000355956.2_Missense_Mutation_p.Q161R|ADAM15_ENST00000447332.3_Missense_Mutation_p.Q145R|ADAM15_ENST00000360674.4_Missense_Mutation_p.Q161R|ADAM15_ENST00000271836.6_Missense_Mutation_p.Q161R|ADAM15_ENST00000368412.3_Missense_Mutation_p.Q161R|ADAM15_ENST00000531455.1_Missense_Mutation_p.Q171R|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000359280.4_Missense_Mutation_p.Q161R|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000449910.2_Missense_Mutation_p.Q161R|ADAM15_ENST00000472434.1_3'UTR	p.Q161R	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		6	583	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		161					B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	ENST00000356955.2	37	c.482A>G	CCDS1087.1	.	.	.	.	.	.	.	.	.	.	A	1.097	-0.662136	0.03454	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000271836;ENST00000531455	T;T;T;T;T;T;T;T	0.00864	5.76;5.76;5.76;5.68;5.6;5.76;5.74;5.76	4.76	-1.8	0.07907	.	0.683951	0.12134	N	0.496540	T	0.00552	0.0018	L	0.45581	1.43	0.09310	N	0.999999	B;B;B;B;P;B;B;B;B;P	0.39551	0.018;0.018;0.006;0.399;0.628;0.014;0.014;0.014;0.399;0.678	B;B;B;B;B;B;B;B;P;P	0.48598	0.026;0.026;0.016;0.396;0.396;0.015;0.015;0.015;0.583;0.531	T	0.47328	-0.9126	10	0.33141	T	0.24	.	4.4022	0.11392	0.3939:0.3295:0.2766:0.0	.	171;178;145;161;161;161;161;161;161;161	E9PN65;B7Z390;B4DMH8;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444	.;.;.;.;.;.;.;.;.;ADA15_HUMAN	R	161;161;161;161;161;161;161;171	ENSP00000349436:Q161R;ENSP00000403843:Q161R;ENSP00000352226:Q161R;ENSP00000353892:Q161R;ENSP00000357397:Q161R;ENSP00000348227:Q161R;ENSP00000271836:Q161R;ENSP00000432927:Q171R	ENSP00000271836:Q161R	Q	+	2	0	ADAM15	153293476	0.000000	0.05858	0.002000	0.10522	0.140000	0.21249	-1.172000	0.03112	-0.173000	0.10761	-0.429000	0.05907	CAG		0.547	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815		4	199	0	0	0	1	0	4	199					G	155026852	A	G	155026852	3	3	92	1	0	0	0	0	1	0	0	0	237	188	7	3	504	3	ADAM15	1	155026852	Missense_Mutation	SNP	A	TCGA-DJ-A2PO-01A-21D-A19J-08	142610835	155026852	94223769	2	2035											
ARHGAP30	257106	broad.mit.edu	37	chr1	161024210	161024210	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgcgagcatgcatgttggtcTgggcactgaatgaggccatg	15	8	1	2			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr1:161024210T>A	ENST00000368013.3	-	5	802	c.482A>T	c.(481-483)cAg>cTg	p.Q161L	ARHGAP30_ENST00000368015.1_Intron|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.Q161L	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	161	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CATGTTGGTCTGGGCACTGAA	0.597																																						ENST00000368013.3																			0				breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(481-483)cAg>cTg		Rho GTPase activating protein 30							106	87	93					1																	161024210		2202	4300	6502	SO:0001583	missense	257106				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr1:161024210T>A	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"Rho GTPase activating proteins"	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.482A>T	1.37:g.161024210T>A	ENSP00000356992:p.Gln161Leu					ARHGAP30_ENST00000368016.3_Missense_Mutation_p.Q161L|ARHGAP30_ENST00000368015.1_Intron	p.Q161L	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		5	802	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		161			Rho-GAP.		Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	ENST00000368013.3	37	c.482A>T	CCDS30918.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.189102	0.78789	.	.	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368017	T;T	0.18016	2.24;2.24	5.47	5.47	0.80525	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.136109	0.49916	D	0.000136	T	0.07818	0.0196	N	0.12637	0.245	0.80722	D	1	P;B	0.37781	0.608;0.216	B;B	0.44224	0.444;0.234	T	0.17167	-1.0378	10	0.66056	D	0.02	.	13.5662	0.61819	0.0:0.0:0.0:1.0	.	161;161	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	L	161;161;13	ENSP00000356995:Q161L;ENSP00000356992:Q161L	ENSP00000356992:Q161L	Q	-	2	0	ARHGAP30	159290834	0.981000	0.34729	0.998000	0.56505	0.993000	0.82548	1.585000	0.36600	2.081000	0.62600	0.524000	0.50904	CAG		0.597	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		13	39	0	0	0	1	0	13	39					A	161024210	T	A	161024210	3	1	92	1	0	0	0	0	1	0	0	0	879	1580	55	5	2855	5	ARHGAP30	1	161024210	Missense_Mutation	SNP	T	TCGA-DJ-A2PO-01A-21D-A19J-08	5997358	161024210	88226411	3	2036											
USH2A	7399	broad.mit.edu	37	chr1	216251673	216251673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcaagactggtatttaacCggaaggtcaatattccactt	9	8	1	1	rs541275063	byFrequency	TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr1:216251673C>T	ENST00000307340.3	-	27	5716	c.5330G>A	c.(5329-5331)cGg>cAg	p.R1777Q	RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.R1777Q|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1777	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGTATTTAACCGGAAGGTCAA	0.373										HNSCC(13;0.011)			C|||	2	0.000399361	0.0015	0	5008	,	,		18311	0		0	False		,,,				2504	0					ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(5329-5331)cGg>cAg		Usher syndrome 2A (autosomal recessive, mild)							204	224	217					1																	216251673		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216251673C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5330G>A	1.37:g.216251673C>T	ENSP00000305941:p.Arg1777Gln	HNSCC(13;0.011)				RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.R1777Q	p.R1777Q			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	27	5716	-			1777			Laminin G-like 2.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.5330G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.857576	0.32791	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.78246	-1.16;-1.16	5.58	-2.94	0.05581	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	1.073040	0.07458	N	0.900087	T	0.56455	0.1986	N	0.20807	0.61	0.09310	N	1	B	0.22346	0.068	B	0.13407	0.009	T	0.35574	-0.9783	10	0.16896	T	0.51	.	5.5354	0.17007	0.3139:0.3219:0.0:0.3642	.	1777	O75445	USH2A_HUMAN	Q	1777	ENSP00000305941:R1777Q;ENSP00000355910:R1777Q	ENSP00000305941:R1777Q	R	-	2	0	USH2A	214318296	0.953000	0.32496	0.031000	0.17742	0.987000	0.75469	0.152000	0.16302	-0.352000	0.08237	-0.142000	0.14014	CGG		0.373	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		5	712	0	0	0	1	0	5	712					T	216251673	C	T	216251673	3	4	92	1	0	0	0	0	1	0	0	0	17033	652	23	1	10462	1	USH2A	1	216251673	Missense_Mutation	SNP	C	TCGA-DJ-A2PO-01A-21D-A19J-08	55227463	216251673	32998948	4	2037											
KCNH7	90134	broad.mit.edu	37	chr2	163236410	163236410	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatctttgttccacttccccGtaggtgaggtcgctttcggt	10	11	1	1			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr2:163236410G>A	ENST00000332142.5	-	14	3183	c.3084C>T	c.(3082-3084)taC>taT	p.Y1028Y		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	1028					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CCACTTCCCCGTAGGTGAGGT	0.512																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(3082-3084)taC>taT		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						181	171	174					2																	163236410		2203	4300	6503	SO:0001819	synonymous_variant	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163236410G>A	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.3084C>T	2.37:g.163236410G>A							p.Y1028Y	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			14	3183	-			1028					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Silent	SNP	ENST00000332142.5	37	c.3084C>T	CCDS2219.1																																																																																				0.512	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		5	311	0	0	0	1	0	5	311					A	163236410	G	A	163236410	2	1	92	1	0	0	0	0	0	0	0	1	8037	1140	40	1		1	KCNH7	2	163236410	Silent	SNP	G	TCGA-DJ-A2PO-01A-21D-A19J-08		163236410	79962963	5	2038											
COL6A3	1293	broad.mit.edu	37	chr2	238280362	238280362	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaaggagaacctccgacGcccccatctcacctggaggt	9	17	1	1	rs370194938|rs368338594		TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr2:238280362G>A	ENST00000295550.4	-	9	4738				COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000392003.2_Missense_Mutation_p.A1026V|COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000392004.3_Missense_Mutation_p.A1227V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AACCTCCGACGCCCCCATCTC	0.478																																						ENST00000392004.3																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(3679-3681)gCg>gTg		collagen, type VI, alpha 3		G	,VAL/ALA,VAL/ALA,,	0,4406		0,0,2203	71	79	76		,3077,3680,,	-3.3	0.0	2		76	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense,missense,intron,intron	COL6A3	NM_004369.3,NM_057164.4,NM_057165.4,NM_057166.4,NM_057167.3	,64,64,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	,1026/1037,1227/1238,,	238280362	1,13005	2203	4300	6503	SO:0001627	intron_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238280362G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.4285+12C>T	2.37:g.238280362G>A						COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000295550.4_Intron|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000392003.2_Missense_Mutation_p.A1026V	p.A1227V	NM_057165.4	NP_476506.3	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	8	3934	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1434			Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.3680C>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	1.522	-0.546659	0.04024	0.0	1.16E-4	ENSG00000163359	ENST00000392004;ENST00000392003	T;T	0.61158	0.27;0.13	1.65	-3.29	0.05017	.	.	.	.	.	T	0.32285	0.0824	N	0.08118	0	0.09310	N	1	P;P	0.40578	0.718;0.722	B;B	0.39299	0.283;0.296	T	0.35895	-0.9770	9	0.54805	T	0.06	.	5.9709	0.19351	0.2324:0.2927:0.4749:0.0	.	1026;1227	A8MT30;E9PGQ9	.;.	V	1227;1026	ENSP00000375861:A1227V;ENSP00000375860:A1026V	ENSP00000375860:A1026V	A	-	2	0	COL6A3	237945101	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-3.339000	0.00184	-3.258000	0.00049	GCG		0.478	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		5	246	0	0	0	1	0	5	246					A	238280362	G	A	238280362	1	1	92	0	1	0	0	0	0	0	0	0	3701	1087	38	1		1	COL6A3	2	238280362	Intron	SNP	G	TCGA-DJ-A2PO-01A-21D-A19J-08	75043952	238280362	4919011	6	2039											
ADCK2	90956	broad.mit.edu	37	chr7	140374545	140374545	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtggaggaatttgagaagctGatggtccaacaggtgagttc	15	5	0	3			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr7:140374545G>C	ENST00000072869.4	+	2	1246	c.1068G>C	c.(1066-1068)ctG>ctC	p.L356L	ADCK2_ENST00000476491.1_Silent_p.L356L	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	356	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					TTGAGAAGCTGATGGTCCAAC	0.458																																						ENST00000072869.4																			0				cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15						c.(1066-1068)ctG>ctC		aarF domain containing kinase 2							125	107	113					7																	140374545		2203	4300	6503	SO:0001819	synonymous_variant	90956					integral to membrane	ATP binding|protein serine/threonine kinase activity	g.chr7:140374545G>C	AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.1068G>C	7.37:g.140374545G>C						ADCK2_ENST00000476491.1_Silent_p.L356L	p.L356L	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN			2	1246	+	Melanoma(164;0.00956)		356			Protein kinase.		Q96CN6|Q9Y6T5	Silent	SNP	ENST00000072869.4	37	c.1068G>C	CCDS5861.1	.	.	.	.	.	.	.	.	.	.	G	9.643	1.139494	0.21205	.	.	ENSG00000133597	ENST00000483369	.	.	.	5.49	1.66	0.24008	.	.	.	.	.	T	0.54255	0.1847	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41928	-0.9481	4	.	.	.	-21.299	6.854	0.24030	0.0:0.4166:0.368:0.2153	.	.	.	.	H	194	.	.	D	+	1	0	ADCK2	140021014	0.996000	0.38824	0.999000	0.59377	0.989000	0.77384	0.466000	0.22019	0.097000	0.17492	-0.165000	0.13383	GAT		0.458	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		16	27	0	0	0	1	0	16	27					C	140374545	G	C	140374545	2	2	92	1	0	0	0	0	0	0	0	1	289	1277	45	4		4	ADCK2	7	140374545	Silent	SNP	G	TCGA-DJ-A2PO-01A-21D-A19J-08		140374545	18764118	7	2040											
PTPLAD2	401494	broad.mit.edu	37	chr9	21007045	21007046	+	Frame_Shift_Ins	INS	-	-	T													atgctgtacttcacatcttcINSttttttttaatgggaaagat							TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr9:21007045_21007046insT	ENST00000495827.2	-	7	734_735	c.689_690insA	c.(688-690)aagfs	p.K230fs	PTPLAD2_ENST00000513293.2_Frame_Shift_Ins_p.K230fs	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain containing 2	230	Poly-Lys.				fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		TTCACATCTTCTTTTTTTTAAT	0.371																																						ENST00000495827.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						c.(688-690)aaafs		protein tyrosine phosphatase-like A domain containing 2																																				SO:0001589	frameshift_variant	401494				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity	g.chr9:21007045_21007046insT		CCDS43791.1	9p21.3	2008-02-05			ENSG00000188921	ENSG00000188921			20920	protein-coding gene	gene with protein product		615941					Standard	NM_001010915		Approved	Em:AL662879.1, OTTHUMG00000021016	uc010mir.1	Q5VWC8	OTTHUMG00000021016	ENST00000495827.2:c.690dupA	9.37:g.21007053_21007053dupT	ENSP00000419503:p.Lys230fs					PTPLAD2_ENST00000513293.2_Frame_Shift_Ins_p.K230fs	p.K230fs	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN		Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)	7	734_735	-			230			Poly-Lys.		Q7Z385	Frame_Shift_Ins	INS	ENST00000495827.2	37	c.689_690insA	CCDS43791.1																																																																																				0.371	PTPLAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055434.3	NM_001010915		7	198						7	198	---	---	---	---	T	21007046	-	T	21007045	7	5	92	1	0	1	1	0	0	0	0	0	12776	912	32	0	12	0	PTPLAD2	9	21007045	Frame_Shift_Ins	INS	-	TCGA-DJ-A2PO-01A-21D-A19J-08		21007045	120206386	8	2041											
NFX1	4799	broad.mit.edu	37	chr9	33294604	33294604	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatctctgctgttcatcagcAtagttatcatccgtcaggaa	7	10	5	0			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr9:33294604A>G	ENST00000379540.3	+	2	274	c.212A>G	c.(211-213)cAt>cGt	p.H71R	NFX1_ENST00000318524.6_Missense_Mutation_p.H71R|NFX1_ENST00000379521.4_Missense_Mutation_p.H71R	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	71					inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		GTTCATCAGCATAGTTATCAT	0.453																																						ENST00000379540.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(211-213)cAt>cGt		nuclear transcription factor, X-box binding 1							169	172	171					9																	33294604		2203	4300	6503	SO:0001583	missense	0				inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:33294604A>G	U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.212A>G	9.37:g.33294604A>G	ENSP00000368856:p.His71Arg					NFX1_ENST00000318524.6_Missense_Mutation_p.H71R|NFX1_ENST00000379521.4_Missense_Mutation_p.H71R	p.H71R	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)	2	274	+			71					A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Missense_Mutation	SNP	ENST00000379540.3	37	c.212A>G	CCDS6538.1	.	.	.	.	.	.	.	.	.	.	A	4.777	0.144520	0.09134	.	.	ENSG00000086102	ENST00000379540;ENST00000379521;ENST00000536210;ENST00000318524	T;T;T	0.21031	2.35;2.03;2.03	5.31	2.92	0.33932	.	0.474887	0.21097	N	0.080226	T	0.11281	0.0275	N	0.20986	0.625	0.09310	N	1	B;B;B;B	0.12013	0.001;0.0;0.0;0.005	B;B;B;B	0.09377	0.004;0.001;0.003;0.004	T	0.21621	-1.0240	10	0.66056	D	0.02	.	1.6876	0.02845	0.557:0.1793:0.0916:0.1721	.	71;71;71;71	F5GXD0;Q12986;Q12986-2;Q12986-3	.;NFX1_HUMAN;.;.	R	71	ENSP00000368856:H71R;ENSP00000368836:H71R;ENSP00000317695:H71R	ENSP00000317695:H71R	H	+	2	0	NFX1	33284604	0.001000	0.12720	0.828000	0.32881	0.601000	0.36947	0.285000	0.18883	0.810000	0.34279	0.450000	0.29827	CAT		0.453	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052069.1			7	333	0	0	0	1	0	7	333					G	33294604	A	G	33294604	3	3	92	1	0	0	0	0	1	0	0	0	10387	217	8	3	218	3	NFX1	9	33294604	Missense_Mutation	SNP	A	TCGA-DJ-A2PO-01A-21D-A19J-08	12287559	33294604	107918827	9	2042											
C2CD3	26005	broad.mit.edu	37	chr11	73879565	73879565	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggaggctttgcaatcttcCatatgactctattaacagta	8	8	2	1			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr11:73879565C>T	ENST00000334126.7	-	2	375	c.149G>A	c.(148-150)tGg>tAg	p.W50*	PPME1_ENST00000328257.8_5'Flank|PPME1_ENST00000398427.4_5'Flank|C2CD3_ENST00000539061.1_Nonsense_Mutation_p.W50*|C2CD3_ENST00000313663.7_Nonsense_Mutation_p.W50*			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	50					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TGCAATCTTCCATATGACTCT	0.458																																						ENST00000334126.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.(148-150)tGg>tAg		C2 calcium-dependent domain containing 3							166	161	162					11																	73879565		2200	4293	6493	SO:0001587	stop_gained	26005					centrosome		g.chr11:73879565C>T	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.149G>A	11.37:g.73879565C>T	ENSP00000334379:p.Trp50*					C2CD3_ENST00000313663.7_Nonsense_Mutation_p.W50*|C2CD3_ENST00000539061.1_Nonsense_Mutation_p.W50*	p.W50*			Q4AC94	C2CD3_HUMAN			2	375	-	Breast(11;4.16e-06)		50					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Nonsense_Mutation	SNP	ENST00000334126.7	37	c.149G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.394499	0.96009	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000289350;ENST00000539061;ENST00000535954	.	.	.	5.57	4.66	0.58398	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.8029	12.332	0.55046	0.0:0.9176:0.0:0.0824	.	.	.	.	X	50;50;50;50;50;92	.	ENSP00000289350:W50X	W	-	2	0	C2CD3	73557213	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.944000	0.75940	1.355000	0.45865	0.655000	0.94253	TGG		0.458	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		7	256	0	0	0	1	0	7	256					T	73879565	C	T	73879565	4	4	92	1	0	0	0	0	0	1	0	0	2154	595	21	2	5862	2	C2CD3	11	73879565	Nonsense_Mutation	SNP	C	TCGA-DJ-A2PO-01A-21D-A19J-08		73879565	61126951	10	2043											
SOX5	6660	broad.mit.edu	37	chr12	23696258	23696258	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggacgctttatgtggggtTcattgctaccacgccctcgg	12	11	1	0			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr12:23696258T>C	ENST00000451604.2	-	13	1759	c.1658A>G	c.(1657-1659)gAa>gGa	p.E553G	SOX5_ENST00000381381.2_Missense_Mutation_p.E432G|SOX5_ENST00000545921.1_Missense_Mutation_p.E543G|SOX5_ENST00000541536.1_Missense_Mutation_p.E432G|SOX5_ENST00000546136.1_Missense_Mutation_p.E540G|SOX5_ENST00000537393.1_Missense_Mutation_p.E518G|SOX5_ENST00000309359.1_Missense_Mutation_p.E540G|SOX5_ENST00000396007.2_Missense_Mutation_p.E167G			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	553					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	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)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TATGTGGGGTTCATTGCTACC	0.458																																						ENST00000546136.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						c.(1618-1620)gAa>gGa		SRY (sex determining region Y)-box 5							182	161	168					12																	23696258		2203	4300	6503	SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23696258T>C	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"SRY (sex determining region Y)-boxes"	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.1658A>G	12.37:g.23696258T>C	ENSP00000398273:p.Glu553Gly					SOX5_ENST00000545921.1_Missense_Mutation_p.E543G|SOX5_ENST00000309359.1_Missense_Mutation_p.E540G|SOX5_ENST00000396007.2_Missense_Mutation_p.E167G|SOX5_ENST00000451604.2_Missense_Mutation_p.E553G|SOX5_ENST00000537393.1_Missense_Mutation_p.E518G|SOX5_ENST00000381381.2_Missense_Mutation_p.E432G|SOX5_ENST00000541536.1_Missense_Mutation_p.E432G	p.E540G			P35711	SOX5_HUMAN			12	1621	-			553					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	c.1619A>G	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	T	28.9	4.958616	0.92726	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000396007;ENST00000545921	D;D;D;D;D;D;D;D	0.97455	-4.38;-4.38;-4.31;-4.39;-4.38;-4.31;-4.36;-4.39	6.17	6.17	0.99709	High mobility group, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98166	0.9394	M	0.71036	2.16	0.51012	D	0.999902	D;D;D;D	0.76494	0.999;0.989;0.999;0.998	D;D;D;D	0.81914	0.995;0.969;0.989;0.957	D	0.98655	1.0681	10	0.52906	T	0.07	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	518;432;553;167	F5H0I3;P35711-4;P35711;P35711-3	.;.;SOX5_HUMAN;.	G	540;540;432;553;505;518;432;167;543	ENSP00000437487:E540G;ENSP00000308927:E540G;ENSP00000370788:E432G;ENSP00000398273:E553G;ENSP00000439832:E518G;ENSP00000441973:E432G;ENSP00000379328:E167G;ENSP00000443520:E543G	ENSP00000308927:E540G	E	-	2	0	SOX5	23587525	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	8.026000	0.88783	2.371000	0.80710	0.533000	0.62120	GAA		0.458	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		5	210	0	0	0	1	0	5	210					C	23696258	T	C	23696258	3	2	92	1	0	0	0	0	1	0	0	0	14954	1783	62	3	645	3	SOX5	12	23696258	Missense_Mutation	SNP	T	TCGA-DJ-A2PO-01A-21D-A19J-08		23696258	110155637	11	2044											
PAWR	5074	broad.mit.edu	37	chr12	79990400	79990400	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacttctatctgttcgagaaTatctacttgagacatcttct	5	10	5	2			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr12:79990400T>C	ENST00000328827.4	-	5	1094	c.722A>G	c.(721-723)tAt>tGt	p.Y241C		NM_002583.2	NP_002574.2	Q96IZ0	PAWR_HUMAN	PRKC, apoptosis, WT1, regulator	241					actin filament bundle assembly (GO:0051017)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|interleukin-2 biosynthetic process (GO:0042094)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|positive regulation of apoptotic process (GO:0043065)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)|leucine zipper domain binding (GO:0043522)|transcription corepressor activity (GO:0003714)			NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TGTTCGAGAATATCTACTTGA	0.358																																						ENST00000328827.4																			0				NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						c.(721-723)tAt>tGt		PRKC, apoptosis, WT1, regulator							102	97	99					12																	79990400		2203	4300	6503	SO:0001583	missense	5074				actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity	g.chr12:79990400T>C	U63809	CCDS31863.1	12q21.2	2013-03-07			ENSG00000177425	ENSG00000177425			8614	protein-coding gene	gene with protein product	"prostate apoptosis response-4"	601936				8943350, 9790775	Standard	NM_002583		Approved	par-4, PAR4	uc001syx.3	Q96IZ0	OTTHUMG00000170080	ENST00000328827.4:c.722A>G	12.37:g.79990400T>C	ENSP00000328088:p.Tyr241Cys						p.Y241C	NM_002583.2	NP_002574.2	Q96IZ0	PAWR_HUMAN			5	1094	-			241					O75796|Q6FHY9|Q8N700	Missense_Mutation	SNP	ENST00000328827.4	37	c.722A>G	CCDS31863.1	.	.	.	.	.	.	.	.	.	.	T	16.09	3.023211	0.54683	.	.	ENSG00000177425	ENST00000328827	T	0.18960	2.18	5.51	-0.0393	0.13876	.	0.734850	0.12666	N	0.449235	T	0.28300	0.0699	L	0.43152	1.355	0.35779	D	0.821481	D	0.63046	0.992	P	0.55999	0.789	T	0.26883	-1.0090	9	.	.	.	-0.0346	11.2479	0.49008	0.4913:0.0:0.0:0.5087	.	241	Q96IZ0	PAWR_HUMAN	C	241	ENSP00000328088:Y241C	.	Y	-	2	0	PAWR	78514531	1.000000	0.71417	0.844000	0.33320	0.796000	0.44982	1.731000	0.38135	-0.247000	0.09597	-0.481000	0.04817	TAT		0.358	PAWR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407175.1	NM_002583		46	76	0	0	0	1	0	46	76					C	79990400	T	C	79990400	3	2	92	1	0	0	0	0	1	0	0	0	11477	1406	49	3	312	3	PAWR	12	79990400	Missense_Mutation	SNP	T	TCGA-DJ-A2PO-01A-21D-A19J-08	56294142	79990400	53861495	12	2045											
SERF2	10169	broad.mit.edu	37	chr15	44085945	44085945	+	Missense_Mutation	SNP	A	A	T													agcagaagcagaaaaaggcaAacgagaagaaggaggaaccc							TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr15:44085945A>T	ENST00000381359.1	+	5	1083	c.154A>T	c.(154-156)Aac>Tac	p.N52Y	MIR1282_ENST00000408865.1_RNA|SERF2_ENST00000249786.4_Missense_Mutation_p.N52Y|SERF2_ENST00000409291.1_Intron|HYPK_ENST00000406925.1_5'Flank|SERF2_ENST00000594896.1_Intron|SERF2_ENST00000409960.2_Missense_Mutation_p.Q96H|SERF2_ENST00000339624.5_Missense_Mutation_p.Q59H|SERF2_ENST00000402131.1_Missense_Mutation_p.N38Y|RP11-296A16.1_ENST00000417761.2_Intron|SERF2_ENST00000403425.1_Missense_Mutation_p.N38Y|SERF2_ENST00000409614.1_Missense_Mutation_p.N38Y|SERF2_ENST00000409646.1_Intron	NM_001199877.1	NP_001186806.1	P84101	SERF2_HUMAN	small EDRK-rich factor 2	52						cytosol (GO:0005829)|nucleus (GO:0005634)				lung(1)	1		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		GAAAAAGGCAAACGAGAAGAA	0.572																																						ENST00000381359.1																			0				lung(1)	1						c.(154-156)Aac>Tac		small EDRK-rich factor 2							215	176	189					15																	44085945		2198	4298	6496	SO:0001583	missense	10169					cytosol|nucleus		g.chr15:44085945A>T	AF073298	CCDS32218.1, CCDS55963.1, CCDS55964.1, CCDS55965.1	15q15.1	2008-01-18			ENSG00000140264	ENSG00000140264			10757	protein-coding gene	gene with protein product		605054				9731538	Standard	NM_001199876		Approved	H4F5rel, 4F5REL, FAM2C, HsT17089	uc010bdq.3	P84101	OTTHUMG00000059935	ENST00000381359.1:c.154A>T	15.37:g.44085945A>T	ENSP00000370764:p.Asn52Tyr					SERF2_ENST00000409291.1_Intron|SERF2_ENST00000402131.1_Missense_Mutation_p.N38Y|SERF2_ENST00000594896.1_Intron|SERF2_ENST00000409960.2_Missense_Mutation_p.Q96H|SERF2_ENST00000409614.1_Missense_Mutation_p.N38Y|SERF2_ENST00000409646.1_Intron|MIR1282_ENST00000408865.1_RNA|SERF2_ENST00000403425.1_Missense_Mutation_p.N38Y|SERF2_ENST00000339624.5_Missense_Mutation_p.Q59H|SERF2_ENST00000249786.4_Missense_Mutation_p.N52Y|RP11-296A16.1_ENST00000417761.2_Intron	p.N52Y	NM_001199877.1	NP_001186806.1	P84101	SERF2_HUMAN		GBM - Glioblastoma multiforme(94;7.81e-07)	5	1083	+		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	52					A6NL45|B5MCG1|B9A026|O75918|O88891|Q9BZH7	Missense_Mutation	SNP	ENST00000381359.1	37	c.154A>T	CCDS32218.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.81|13.81	2.347824|2.347824	0.41599|0.41599	.|.	.|.	ENSG00000140264|ENSG00000140264	ENST00000381359;ENST00000249786;ENST00000402131;ENST00000403425;ENST00000409614|ENST00000409960;ENST00000339624	T;T;T;T;T|T;T	0.51817|0.55052	0.85;0.85;0.69;0.69;0.69|0.55;0.54	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|.	.|.	.|.	.|.	T|T	0.64594|0.64594	0.2612|0.2612	.|.	.|.	.|.	0.26907|0.26907	N|N	0.966983|0.966983	B|D;P	0.28026|0.61080	0.198|0.989;0.704	B|P;B	0.12837|0.56916	0.008|0.809;0.36	T|T	0.61019|0.61019	-0.7147|-0.7147	8|8	0.87932|0.51188	D|T	0|0.08	.|.	12.7757|12.7757	0.57445|0.57445	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	52|59;96	P84101|A6NL45;B9A026	SERF2_HUMAN|.;.	Y|H	52;52;38;38;38|96;59	ENSP00000370764:N52Y;ENSP00000249786:N52Y;ENSP00000386044:N38Y;ENSP00000384300:N38Y;ENSP00000386783:N38Y|ENSP00000387187:Q96H;ENSP00000339647:Q59H	ENSP00000249786:N52Y|ENSP00000339647:Q59H	N|Q	+|+	1|3	0|2	SERF2|SERF2	41873237|41873237	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.727000|1.727000	0.38095|0.38095	2.258000|2.258000	0.74832|0.74832	0.533000|0.533000	0.62120|0.62120	AAC|CAA		0.572	SERF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133233.2	NM_005770		5	189	0	0	0	1	0	5	189					T	44085945	A	T	44085945	3	4	92	1	0	0	0	0	1	0	0	0	14076	14	1	5	164	5	SERF2	15	44085945	Missense_Mutation	SNP	A	TCGA-DJ-A2PO-01A-21D-A19J-08		44085945	58445447	13	2046	11	2									
SERF2	10169	broad.mit.edu	37	chr15	44085952	44085952	+	Missense_Mutation	SNP	A	A	T													gcagaaaaaggcaaacgagaAgaaggaggaacccaagtagc							TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr15:44085952A>T	ENST00000381359.1	+	5	1090	c.161A>T	c.(160-162)aAg>aTg	p.K54M	MIR1282_ENST00000408865.1_RNA|SERF2_ENST00000249786.4_Missense_Mutation_p.K54M|SERF2_ENST00000409291.1_Intron|HYPK_ENST00000406925.1_5'Flank|SERF2_ENST00000594896.1_Intron|SERF2_ENST00000409960.2_Nonsense_Mutation_p.R99*|SERF2_ENST00000339624.5_Nonsense_Mutation_p.R62*|SERF2_ENST00000402131.1_Missense_Mutation_p.K40M|RP11-296A16.1_ENST00000417761.2_Intron|SERF2_ENST00000403425.1_Missense_Mutation_p.K40M|SERF2_ENST00000409614.1_Missense_Mutation_p.K40M|SERF2_ENST00000409646.1_Intron	NM_001199877.1	NP_001186806.1	P84101	SERF2_HUMAN	small EDRK-rich factor 2	54						cytosol (GO:0005829)|nucleus (GO:0005634)				lung(1)	1		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		GCAAACGAGAAGAAGGAGGAA	0.562																																						ENST00000409960.2																			0				lung(1)	1						c.(295-297)Aga>Tga		small EDRK-rich factor 2							214	175	188					15																	44085952		2198	4298	6496	SO:0001583	missense	10169					cytosol|nucleus		g.chr15:44085952A>T	AF073298	CCDS32218.1, CCDS55963.1, CCDS55964.1, CCDS55965.1	15q15.1	2008-01-18			ENSG00000140264	ENSG00000140264			10757	protein-coding gene	gene with protein product		605054				9731538	Standard	NM_001199876		Approved	H4F5rel, 4F5REL, FAM2C, HsT17089	uc010bdq.3	P84101	OTTHUMG00000059935	ENST00000381359.1:c.161A>T	15.37:g.44085952A>T	ENSP00000370764:p.Lys54Met					SERF2_ENST00000409291.1_Intron|SERF2_ENST00000402131.1_Missense_Mutation_p.K40M|SERF2_ENST00000594896.1_Intron|SERF2_ENST00000409614.1_Missense_Mutation_p.K40M|SERF2_ENST00000381359.1_Missense_Mutation_p.K54M|SERF2_ENST00000409646.1_Intron|MIR1282_ENST00000408865.1_RNA|SERF2_ENST00000403425.1_Missense_Mutation_p.K40M|SERF2_ENST00000339624.5_Nonsense_Mutation_p.R62*|SERF2_ENST00000249786.4_Missense_Mutation_p.K54M|RP11-296A16.1_ENST00000417761.2_Intron	p.R99*	NM_001199875.1	NP_001186804.1	P84101	SERF2_HUMAN		GBM - Glioblastoma multiforme(94;7.81e-07)	3	342	+		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	0					A6NL45|B5MCG1|B9A026|O75918|O88891|Q9BZH7	Nonsense_Mutation	SNP	ENST00000381359.1	37	c.295A>T	CCDS32218.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.7|24.7	4.556558|4.556558	0.86231|0.86231	.|.	.|.	ENSG00000140264|ENSG00000140264	ENST00000381359;ENST00000249786;ENST00000402131;ENST00000403425;ENST00000409614|ENST00000409960;ENST00000339624	T;T;T;T;T|.	0.58652|.	0.64;0.64;0.32;0.32;0.32|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|.	.|.	.|.	.|.	T|.	0.73156|.	0.3551|.	.|.	.|.	.|.	0.38867|0.38867	D|D	0.956615|0.956615	P|.	0.51240|.	0.943|.	P|.	0.55667|.	0.781|.	T|.	0.77653|.	-0.2507|.	8|.	0.72032|0.66056	D|D	0.01|0.02	.|.	12.7757|12.7757	0.57445|0.57445	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	54|.	P84101|.	SERF2_HUMAN|.	M|X	54;54;40;40;40|99;62	ENSP00000370764:K54M;ENSP00000249786:K54M;ENSP00000386044:K40M;ENSP00000384300:K40M;ENSP00000386783:K40M|.	ENSP00000249786:K54M|ENSP00000339647:R62X	K|R	+|+	2|1	0|2	SERF2|SERF2	41873244|41873244	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.957000|3.957000	0.56730|0.56730	2.258000|2.258000	0.74832|0.74832	0.533000|0.533000	0.62120|0.62120	AAG|AGA		0.562	SERF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133233.2	NM_005770		6	183	0	0	0	1	0	6	183					T	44085952	A	T	44085952	3	4	92	1	0	0	0	0	1	0	0	0	14076	72	3	5	171	5	SERF2	15	44085952	Missense_Mutation	SNP	A	TCGA-DJ-A2PO-01A-21D-A19J-08	7	44085952	58445440	14	2047	11	2									
CARHSP1	23589	broad.mit.edu	37	chr16	8952307	8952307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagactcctttgtagacggGgccctgtgaagcccgcaccg	13	14	0	3			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr16:8952307G>A	ENST00000396593.2	-	3	540	c.181C>T	c.(181-183)Ccc>Tcc	p.P61S	RP11-77H9.2_ENST00000565934.1_RNA|CARHSP1_ENST00000561530.1_Missense_Mutation_p.P61S|CARHSP1_ENST00000567554.1_Missense_Mutation_p.P61S|CARHSP1_ENST00000311052.5_Missense_Mutation_p.P61S|CARHSP1_ENST00000567626.1_5'Flank|CARHSP1_ENST00000562843.1_Missense_Mutation_p.P61S	NM_001042476.1|NM_001278260.1|NM_001278261.1|NM_001278262.1|NM_001278263.1|NM_001278264.1|NM_001278265.1|NM_001278266.1|NM_014316.3	NP_001035941.1|NP_001265189.1|NP_001265190.1|NP_001265191.1|NP_001265192.1|NP_001265193.1|NP_001265194.1|NP_001265195.1|NP_055131.2	Q9Y2V2	CHSP1_HUMAN	calcium regulated heat stable protein 1, 24kDa	61					intracellular signal transduction (GO:0035556)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|P granule (GO:0043186)	DNA binding (GO:0003677)|mRNA 3'-UTR binding (GO:0003730)|phosphatase binding (GO:0019902)			endometrium(2)|lung(1)	3						TTGTAGACGGGGCCCTGTGAA	0.607																																						ENST00000396593.2																			0				endometrium(2)|lung(1)	3						c.(181-183)Ccc>Tcc		calcium regulated heat stable protein 1, 24kDa							55	61	59					16																	8952307		2197	4300	6497	SO:0001583	missense	23589				intracellular signal transduction|regulation of mRNA stability|regulation of transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|P granule	DNA binding|mRNA 3'-UTR binding|phosphatase binding	g.chr16:8952307G>A	AF115345	CCDS10537.1	16p13.2	2008-02-05	2002-08-29		ENSG00000153048	ENSG00000153048			17150	protein-coding gene	gene with protein product			"calcium regulated heat stable protein 1 (24kD)"			9712905	Standard	NM_014316		Approved	CRHSP-24, CSDC1	uc031quz.1	Q9Y2V2	OTTHUMG00000129695	ENST00000396593.2:c.181C>T	16.37:g.8952307G>A	ENSP00000379838:p.Pro61Ser					CARHSP1_ENST00000562843.1_Missense_Mutation_p.P61S|CARHSP1_ENST00000311052.5_Missense_Mutation_p.P61S|RP11-77H9.2_ENST00000565934.1_RNA|CARHSP1_ENST00000567554.1_Missense_Mutation_p.P61S|CARHSP1_ENST00000561530.1_Missense_Mutation_p.P61S	p.P61S	NM_001042476.1|NM_001278260.1|NM_001278261.1|NM_001278262.1|NM_001278263.1|NM_001278264.1|NM_001278265.1|NM_001278266.1|NM_014316.3	NP_001035941.1|NP_001265189.1|NP_001265190.1|NP_001265191.1|NP_001265192.1|NP_001265193.1|NP_001265194.1|NP_001265195.1|NP_055131.2	Q9Y2V2	CHSP1_HUMAN			3	540	-			61					B2R4C3|D3DUF5|Q2YDX5|Q9BQ53	Missense_Mutation	SNP	ENST00000396593.2	37	c.181C>T	CCDS10537.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551441	0.86127	.	.	ENSG00000153048	ENST00000396593;ENST00000311052	.	.	.	5.37	3.32	0.38043	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	T	0.69637	0.3133	M	0.84846	2.72	0.80722	D	1	P	0.48407	0.91	P	0.45998	0.5	T	0.74990	-0.3475	9	0.87932	D	0	1.8599	13.1807	0.59653	0.0:0.0:0.7102:0.2898	.	61	Q9Y2V2	CHSP1_HUMAN	S	61	.	ENSP00000311847:P61S	P	-	1	0	CARHSP1	8859808	1.000000	0.71417	0.848000	0.33437	0.927000	0.56198	7.797000	0.85911	0.576000	0.29452	0.561000	0.74099	CCC		0.607	CARHSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251902.1	NM_014316		6	81	0	0	0	1	0	6	81					A	8952307	G	A	8952307	3	1	92	1	0	0	0	0	1	0	0	0	2653	1232	43	2	270	2	CARHSP1	16	8952307	Missense_Mutation	SNP	G	TCGA-DJ-A2PO-01A-21D-A19J-08		8952307	81402446	15	2048											
SETBP1	26040	broad.mit.edu	37	chr18	42281493	42281493	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catggagccagaggaggaggAtgaactaggctcagggcggg	19	7	1	2			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr18:42281493A>T	ENST00000282030.5	+	2	478	c.182A>T	c.(181-183)gAt>gTt	p.D61V	SETBP1_ENST00000426838.4_Missense_Mutation_p.D61V	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	61						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GAGGAGGAGGATGAACTAGGC	0.582									Schinzel-Giedion syndrome																													ENST00000282030.5																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104						c.(181-183)gAt>gTt		SET binding protein 1							79	67	71					18																	42281493		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42281493A>T	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.182A>T	18.37:g.42281493A>T	ENSP00000282030:p.Asp61Val					SETBP1_ENST00000426838.4_Missense_Mutation_p.D61V	p.D61V	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	2	478	+			61					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.182A>T	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	A	18.70	3.680110	0.68042	.	.	ENSG00000152217	ENST00000426838;ENST00000282030;ENST00000552979	T	0.71461	-0.57	5.7	5.7	0.88788	.	0.059261	0.64402	D	0.000003	T	0.78723	0.4328	L	0.44542	1.39	0.58432	D	0.999997	D;P	0.76494	0.999;0.936	D;P	0.66351	0.943;0.64	T	0.80917	-0.1168	10	0.87932	D	0	.	15.9644	0.79956	1.0:0.0:0.0:0.0	.	61;61	Q9Y6X0;Q9Y6X0-2	SETBP_HUMAN;.	V	61	ENSP00000282030:D61V	ENSP00000282030:D61V	D	+	2	0	SETBP1	40535491	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.636000	0.61339	2.170000	0.68504	0.482000	0.46254	GAT		0.582	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		12	114	0	0	0	1	0	12	114					T	42281493	A	T	42281493	3	4	92	1	0	0	0	0	1	0	0	0	14129	333	12	5	184	5	SETBP1	18	42281493	Missense_Mutation	SNP	A	TCGA-DJ-A2PO-01A-21D-A19J-08		42281493	35795755	16	2049											
GFRA4	64096	broad.mit.edu	37	chr20	3641263	3641264	+	Frame_Shift_Del	DEL	CG	CG	-													gcagtcgcaccagggcgccaCgcgcgcgctcacgttgtcca							TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr20:3641263_3641264delCG	ENST00000319242.3	-	3	635_636	c.636_637delCG	c.(634-639)cgcgtgfs	p.V213fs	GFRA4_ENST00000290417.2_Frame_Shift_Del_p.V183fs			Q9GZZ7	GFRA4_HUMAN	GDNF family receptor alpha 4	213					negative regulation of ossification (GO:0030279)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)			large_intestine(1)|lung(2)	3						CAGGGCGCCACGCGCGCGCTCA	0.698																																						ENST00000290417.2																			0				large_intestine(1)|lung(2)	3						c.(544-549)cgtgfs		GDNF family receptor alpha 4																																				SO:0001589	frameshift_variant	64096					anchored to membrane|extracellular region|plasma membrane	receptor activity	g.chr20:3641263_3641264delCG	AF253318	CCDS13055.1, CCDS13056.1	20p13-p12	2008-07-16			ENSG00000125861	ENSG00000125861			13821	protein-coding gene	gene with protein product	"persephin receptor"					10958791, 15225646	Standard	XM_005260793		Approved		uc002win.3	Q9GZZ7	OTTHUMG00000031748	ENST00000319242.3:c.636_637delCG	20.37:g.3641269_3641270delCG	ENSP00000313423:p.Val213fs					GFRA4_ENST00000319242.3_Frame_Shift_Del_p.RV212fs	p.RV182fs	NM_022139.3|NM_145762.2	NP_071422.1|NP_665705.1	Q9GZZ7	GFRA4_HUMAN			4	545_546	-			212					Q5JT74|Q9H191|Q9H192	Frame_Shift_Del	DEL	ENST00000319242.3	37	c.546_547delCG	CCDS13056.1																																																																																				0.698	GFRA4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077744.1	NM_145762		2	4						2	4	---	---	---	---	-	3641264	CG	-	3641263	7	5	92	1	0	1	0	1	0	0	0	0	6350	536	19	0	274	0	GFRA4	20	3641263	Frame_Shift_Del	DEL	CG	TCGA-DJ-A2PO-01A-21D-A19J-08		3641263	59384257	17	2050											
SH3BGR	6450	broad.mit.edu	37	chr21	40823936	40823936	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagccccgacctggcacttGcttgcctgtgtcactgtcag	10	16	2	0			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr21:40823936G>A	ENST00000333634.4	+	1	181	c.103G>A	c.(103-105)Gct>Act	p.A35T	SH3BGR_ENST00000380637.3_Intron|SH3BGR_ENST00000458295.1_Intron|SH3BGR_ENST00000380634.1_Intron|SH3BGR_ENST00000380631.1_Intron	NM_007341.2	NP_031367	P55822	SH3BG_HUMAN	SH3 domain binding glutamate-rich protein	35					positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		CCTGGCACTTGCTTGCCTGTG	0.592																																						ENST00000333634.4																			0				NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8						c.(103-105)Gct>Act		SH3 domain binding glutamic acid-rich protein							101	99	100					21																	40823936		2203	4300	6503	SO:0001583	missense	6450				protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity	g.chr21:40823936G>A		CCDS13666.1, CCDS33560.1	21q22.3	2014-02-19	2014-02-19		ENSG00000185437	ENSG00000185437			10822	protein-coding gene	gene with protein product	"21-glutamic acid-rich protein"	602230	"SH3 domain binding glutamic acid-rich protein"			9050928	Standard	NM_007341		Approved	21-GARP	uc002yya.3	P55822	OTTHUMG00000074113	ENST00000333634.4:c.103G>A	21.37:g.40823936G>A	ENSP00000332513:p.Ala35Thr					SH3BGR_ENST00000458295.1_Intron|SH3BGR_ENST00000380631.1_Intron|SH3BGR_ENST00000380634.1_Intron|SH3BGR_ENST00000380637.3_Intron	p.A35T	NM_007341.2	NP_031367.1	P55822	SH3BG_HUMAN		STAD - Stomach adenocarcinoma(101;0.00151)	1	181	+		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)	35					A6ND59|D3DSI2|Q9BRB8	Missense_Mutation	SNP	ENST00000333634.4	37	c.103G>A	CCDS13666.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465692	0.43839	.	.	ENSG00000185437	ENST00000333634	T	0.28255	1.62	4.22	2.29	0.28610	.	1.996380	0.02457	N	0.086146	T	0.19846	0.0477	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.22730	-1.0208	10	0.72032	D	0.01	.	7.5132	0.27585	0.0932:0.1658:0.741:0.0	.	35	P55822	SH3BG_HUMAN	T	35	ENSP00000332513:A35T	ENSP00000332513:A35T	A	+	1	0	SH3BGR	39745806	0.000000	0.05858	0.005000	0.12908	0.300000	0.27592	0.483000	0.22292	1.013000	0.39391	0.655000	0.94253	GCT		0.592	SH3BGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157377.6	NM_007341		5	195	0	0	0	1	0	5	195					A	40823936	G	A	40823936	3	1	92	1	0	0	0	0	1	0	0	0	14240	1319	46	2	105	2	SH3BGR	21	40823936	Missense_Mutation	SNP	G	TCGA-DJ-A2PO-01A-21D-A19J-08		40823936	7305959	18	2051											
DACH2	117154	broad.mit.edu	37	chrX	86069820	86069820	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agccaccactagtgacagtgGcctgaggatgttaaaaggta	12	8	0	2			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chrX:86069820G>T	ENST00000373125.4	+	10	1667	c.1667G>T	c.(1666-1668)gGc>gTc	p.G556V	DACH2_ENST00000373131.1_Missense_Mutation_p.G543V|DACH2_ENST00000510272.1_Missense_Mutation_p.G337V|DACH2_ENST00000508860.1_Missense_Mutation_p.G389V	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	556					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G556V(9)|p.G543V(9)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						AGTGACAGTGGCCTGAGGATG	0.398																																						ENST00000373131.1																			18	Substitution - Missense(18)	p.G556V(9)|p.G543V(9)	endometrium(8)|kidney(8)|lung(2)	breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						c.(1627-1629)gGc>gTc		dachshund homolog 2 (Drosophila)							57	48	51					X																	86069820		2203	4300	6503	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:86069820G>T	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"dachshund homolog 2 (Drosophila)"				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.1667G>T	X.37:g.86069820G>T	ENSP00000362217:p.Gly556Val					DACH2_ENST00000508860.1_Missense_Mutation_p.G389V|DACH2_ENST00000477378.2_Intron|DACH2_ENST00000373125.4_Missense_Mutation_p.G556V|DACH2_ENST00000510272.1_Missense_Mutation_p.G337V	p.G543V	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN			9	1791	+			556					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.1628G>T	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.667616	0.29604	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297;ENST00000484479	D;D	0.82433	-1.57;-1.61	4.76	4.76	0.60689	.	0.153373	0.30410	N	0.009683	D	0.84451	0.5475	L	0.34521	1.04	0.80722	D	1	B;B;D;P	0.61697	0.172;0.085;0.99;0.793	B;B;P;B	0.60068	0.038;0.054;0.868;0.254	T	0.82857	-0.0250	10	0.27082	T	0.32	.	17.002	0.86383	0.0:0.0:1.0:0.0	.	422;556;543;556	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	V	556;543;556;389;337;389;221	ENSP00000362223:G543V;ENSP00000362217:G556V	ENSP00000345134:G556V	G	+	2	0	DACH2	85956476	0.999000	0.42202	0.958000	0.39756	0.913000	0.54294	3.863000	0.56016	1.932000	0.55993	0.415000	0.27848	GGC		0.398	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		6	31	1	0	5.9392e-07	1	6.22202e-07	6	31					T	86069820	G	T	86069820	3	4	92	1	0	0	0	0	1	0	0	0	4221	1203	42	4	1705	4	DACH2	23	86069820	Missense_Mutation	SNP	G	TCGA-DJ-A2PO-01A-21D-A19J-08		86069820	69200740	19	2052											
MYOM3	127294	broad.mit.edu	37	chr1	24383949	24383949	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacttgttcttgacgaagaCgccgtagcggccgctgtctt	11	11	2	2			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr1:24383949C>T	ENST00000374434.3	-	37	4381	c.4219G>A	c.(4219-4221)Gtc>Atc	p.V1407I	MYOM3_ENST00000330966.7_Missense_Mutation_p.V1410I|MYOM3_ENST00000338909.5_Missense_Mutation_p.V300I|RP11-293P20.2_ENST00000439239.2_RNA	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1407	Ig-like C2-type 4.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TTGACGAAGACGCCGTAGCGG	0.577																																						ENST00000330966.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.(4228-4230)Gtc>Atc		myomesin 3							90	94	93					1																	24383949		2052	4185	6237	SO:0001583	missense	127294							g.chr1:24383949C>T	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	26679	protein-coding gene	gene with protein product			"myomesin family, member 3"			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.4219G>A	1.37:g.24383949C>T	ENSP00000363557:p.Val1407Ile					MYOM3_ENST00000374434.3_Missense_Mutation_p.V1407I|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_Missense_Mutation_p.V300I	p.V1410I			Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	37	4390	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	1407			Ig-like C2-type 4.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.4228G>A	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	C	0.342	-0.950161	0.02285	.	.	ENSG00000142661	ENST00000338909;ENST00000374434;ENST00000330966;ENST00000374442	T;T;T	0.41758	0.99;0.99;0.99	5.24	1.87	0.25490	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.270219	0.34268	N	0.004108	T	0.17916	0.0430	N	0.11154	0.105	0.80722	D	1	B;B	0.20164	0.008;0.042	B;B	0.20184	0.01;0.028	T	0.05666	-1.0871	10	0.10902	T	0.67	.	5.5888	0.17289	0.0:0.3488:0.0:0.6512	.	1407;300	Q5VTT5;Q5VTT5-3	MYOM3_HUMAN;.	I	300;1407;1410;301	ENSP00000342689:V300I;ENSP00000363557:V1407I;ENSP00000332670:V1410I	ENSP00000332670:V1410I	V	-	1	0	MYOM3	24256536	0.994000	0.37717	0.408000	0.26446	0.146000	0.21551	2.482000	0.45224	0.565000	0.29255	0.655000	0.94253	GTC		0.577	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		10	48	0	0	0	0.080935	0	10	48					T	24383949	C	T	24383949	3	4	93	1	0	0	0	0	1	0	0	0	10093	536	19	1	98	1	MYOM3	1	24383949	Missense_Mutation	SNP	C	TCGA-DJ-A2PP-01A-11D-A19J-08		24383949	224866672	1	2053											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290	byFrequency	TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		neuroblastoma RAS viral (v-ras) oncogene homolog							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		72	113	0	0	0	0.048971	0	72	113					C	115256529	T	C	115256529	3	2	93	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-DJ-A2PP-01A-11D-A19J-08	90872580	115256529	133994092	2	2054											
PGLYRP4	57115	broad.mit.edu	37	chr1	153315684	153315684	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcatccccaaccaggaaGctatggagcaagataataca	7	12	1	1			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr1:153315684G>A	ENST00000359650.5	-	5	418	c.354C>T	c.(352-354)aaC>aaT	p.N118N	PGLYRP4_ENST00000368739.3_Splice_Site_p.N114N|PGLYRP4_ENST00000490266.1_5'Flank	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	118					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAACCAGGAAGCTATGGAGCA	0.502																																						ENST00000368739.3																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23						c.e5-1		peptidoglycan recognition protein 4							170	134	146					1																	153315684		2203	4300	6503	SO:0001630	splice_region_variant	57115				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153315684G>A	AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"peptidoglycan recognition protein I beta precursor"	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.354-1C>T	1.37:g.153315684G>A						PGLYRP4_ENST00000359650.5_Splice_Site_p.N118_splice	p.N114_splice			Q96LB8	PGRP4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		5	700	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		118					A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Splice_Site	SNP	ENST00000359650.5	37	c.341_splice	CCDS30871.1																																																																																				0.502	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393	Silent	29	54	0	0	0	0.045705	0	29	54					A	153315684	G	A	153315684	5	1	93	1	0	0	0	0	0	0	1	0	11796	985	34	2	787	2	PGLYRP4	1	153315684	Splice_Site	SNP	G	TCGA-DJ-A2PP-01A-11D-A19J-08	38059155	153315684	95934937	3	2055											
LYST	1130	broad.mit.edu	37	chr1	235920719	235920719	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accccacttaggagttcataTaatccacagcatataggtac	6	11	1	0	rs544394700		TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr1:235920719T>C	ENST00000389794.3	-	24	7095	c.6921A>G	c.(6919-6921)ttA>ttG	p.L2307L	LYST_ENST00000389793.2_Silent_p.L2307L			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2307					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GGAGTTCATATAATCCACAGC	0.373													T|||	1	0.000199681	8e-04	0	5008	,	,		16175	0		0	False		,,,				2504	0					ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(6919-6921)ttA>ttG		lysosomal trafficking regulator							126	124	125					1																	235920719		2203	4300	6503	SO:0001819	synonymous_variant	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235920719T>C	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.6921A>G	1.37:g.235920719T>C						LYST_ENST00000389793.2_Silent_p.L2307L	p.L2307L			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		24	7095	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	2307					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	c.6921A>G	CCDS31062.1																																																																																				0.373	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			30	54	0	0	0	0.041601	0	30	54					C	235920719	T	C	235920719	2	2	93	1	0	0	0	0	0	0	0	1	9128	1403	49	3		3	LYST	1	235920719	Silent	SNP	T	TCGA-DJ-A2PP-01A-11D-A19J-08	82605035	235920719	13329902	4	2056											
CAPN13	92291	broad.mit.edu	37	chr2	30966369	30966369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtcatggtgaagttgcggCggaatttattatttgagctt	12	4	1	2			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr2:30966369C>T	ENST00000295055.8	-	13	1501	c.1325G>A	c.(1324-1326)cGc>cAc	p.R442H	CAPN13_ENST00000534090.2_Missense_Mutation_p.R442H	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	442					proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GAAGTTGCGGCGGAATTTATT	0.463																																						ENST00000295055.8																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30						c.(1324-1326)cGc>cAc		calpain 13							211	202	205					2																	30966369		1866	4108	5974	SO:0001583	missense	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:30966369C>T		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.1325G>A	2.37:g.30966369C>T	ENSP00000295055:p.Arg442His					CAPN13_ENST00000534090.2_Missense_Mutation_p.R442H	p.R442H	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN			13	1501	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		442					Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	ENST00000295055.8	37	c.1325G>A	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.687947	0.29962	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	D;D	0.87412	-2.25;-2.25	5.52	-1.17	0.09648	Peptidase C2, calpain, large subunit, domain III (2);	1.383140	0.04630	N	0.403459	T	0.68495	0.3007	N	0.03608	-0.345	0.09310	N	1	B	0.21147	0.052	B	0.15052	0.012	T	0.58183	-0.7681	10	0.44086	T	0.13	.	1.6142	0.02700	0.1257:0.2197:0.1441:0.5105	.	442	Q6MZZ7	CAN13_HUMAN	H	442	ENSP00000295055:R442H;ENSP00000431298:R442H	ENSP00000295055:R442H	R	-	2	0	CAPN13	30819873	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.189000	0.09629	0.067000	0.16545	-0.459000	0.05422	CGC		0.463	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		70	121	0	0	0	0.048971	0	70	121					T	30966369	C	T	30966369	3	4	93	1	0	0	0	0	1	0	0	0	2626	768	27	1	724	1	CAPN13	2	30966369	Missense_Mutation	SNP	C	TCGA-DJ-A2PP-01A-11D-A19J-08		30966369	212233004	5	2057											
NRXN1	9378	broad.mit.edu	37	chr2	51254683	51254683	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagccggttcgcgagcagtcGcacacggcctggtcgtccac	13	15	0	0			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr2:51254683G>A	ENST00000406316.2	-	2	2205	c.729C>T	c.(727-729)tgC>tgT	p.C243C	NRXN1_ENST00000402717.3_Silent_p.C243C|NRXN1_ENST00000405581.1_Silent_p.C243C|NRXN1_ENST00000401669.2_Silent_p.C243C|NRXN1_ENST00000404971.1_Silent_p.C243C|NRXN1_ENST00000406859.3_Silent_p.C243C|NRXN1_ENST00000405472.3_Silent_p.C243C	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	243	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCGAGCAGTCGCACACGGCCT	0.751																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(727-729)tgC>tgT		neurexin 1							15	19	18					2																	51254683		2120	4211	6331	SO:0001819	synonymous_variant	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:51254683G>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.729C>T	2.37:g.51254683G>A						NRXN1_ENST00000406859.3_Silent_p.C243C|NRXN1_ENST00000406316.2_Silent_p.C243C|NRXN1_ENST00000402717.3_Silent_p.C243C|NRXN1_ENST00000405472.3_Silent_p.C243C|NRXN1_ENST00000401669.2_Silent_p.C243C|NRXN1_ENST00000405581.1_Silent_p.C243C	p.C243C	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	2068	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	243			EGF-like 1.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.729C>T	CCDS54360.1																																																																																				0.751	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			3	21	0	0	0	0.009096	0	3	21					A	51254683	G	A	51254683	2	1	93	1	0	0	0	0	0	0	0	1	10665	1079	38	1		1	NRXN1	2	51254683	Silent	SNP	G	TCGA-DJ-A2PP-01A-11D-A19J-08	20288314	51254683	191944690	6	2058											
PIGZ	80235	broad.mit.edu	37	chr3	196674504	196674504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgaagaggagggcaccgaGggcgttgaagaggaccacag	18	9	0	3			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr3:196674504G>A	ENST00000412723.1	-	3	1410	c.1264C>T	c.(1264-1266)Ctc>Ttc	p.L422F		NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	422					GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	alpha-1,2-mannosyltransferase activity (GO:0000026)|mannosyltransferase activity (GO:0000030)			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		AGGGCACCGAGGGCGTTGAAG	0.652																																						ENST00000412723.1																			0				breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14						c.(1264-1266)Ctc>Ttc		phosphatidylinositol glycan anchor biosynthesis, class Z							43	43	43					3																	196674504		2203	4300	6503	SO:0001583	missense	80235				GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr3:196674504G>A	BC018804	CCDS3324.1	3q29	2013-02-26	2006-06-28		ENSG00000119227	ENSG00000119227		"Dolichyl D-mannosyl phosphate dependent mannosyltransferases", "Phosphatidylinositol glycan anchor biosynthesis"	30596	protein-coding gene	gene with protein product	"GPI mannosyltransferase 4", "dol-P-Man dependent GPI mannosyltransferase"	611671	"phosphatidylinositol glycan, class Z"			15208306	Standard	NM_025163		Approved	FLJ12768, MGC52163, SMP3	uc003fxh.3	Q86VD9	OTTHUMG00000155522	ENST00000412723.1:c.1264C>T	3.37:g.196674504G>A	ENSP00000413405:p.Leu422Phe						p.L422F	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)	3	1410	-	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		422					Q9H9G6	Missense_Mutation	SNP	ENST00000412723.1	37	c.1264C>T	CCDS3324.1	.	.	.	.	.	.	.	.	.	.	G	10.04	1.242790	0.22796	.	.	ENSG00000119227	ENST00000412723	T	0.63417	-0.04	5.0	3.06	0.35304	.	0.197104	0.25310	N	0.031583	T	0.68723	0.3032	L	0.59436	1.845	0.18873	N	0.999982	D	0.63880	0.993	D	0.63877	0.919	T	0.56553	-0.7960	10	0.42905	T	0.14	-6.9908	7.211	0.25933	0.1592:0.1405:0.7003:0.0	.	422	Q86VD9	PIGZ_HUMAN	F	422	ENSP00000413405:L422F	ENSP00000413405:L422F	L	-	1	0	PIGZ	198158901	0.365000	0.25006	0.029000	0.17559	0.186000	0.23388	1.341000	0.33907	1.219000	0.43474	0.561000	0.74099	CTC		0.652	PIGZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340486.2	NM_025163		7	29	0	0	0	0.02938	0	7	29					A	196674504	G	A	196674504	3	1	93	1	0	0	0	0	1	0	0	0	11905	1000	35	2	479	2	PIGZ	3	196674504	Missense_Mutation	SNP	G	TCGA-DJ-A2PP-01A-11D-A19J-08		196674504	1347926	7	2059											
C5orf42	65250	broad.mit.edu	37	chr5	37169007	37169007	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atagatgctcttgaggttgaTggaaacatattaggaggttt	12	3	1	3			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr5:37169007T>C	ENST00000508244.1	-	33	7212	c.7119A>G	c.(7117-7119)ccA>ccG	p.P2373P	C5orf42_ENST00000274258.7_Silent_p.P1253P|C5orf42_ENST00000425232.2_Silent_p.P2373P			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2373						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTGAGGTTGATGGAAACATAT	0.393																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(3757-3759)ccA>ccG		chromosome 5 open reading frame 42							201	200	200					5																	37169007		2203	4300	6503	SO:0001819	synonymous_variant	65250							g.chr5:37169007T>C		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.7119A>G	5.37:g.37169007T>C						C5orf42_ENST00000425232.2_Silent_p.P2373P|C5orf42_ENST00000508244.1_Silent_p.P2373P	p.P1253P			E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		34	7346	-	all_lung(31;0.000616)		2373					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Silent	SNP	ENST00000508244.1	37	c.3759A>G	CCDS34146.2																																																																																				0.393	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		28	123	0	0	0	0.037714	0	28	123					C	37169007	T	C	37169007	2	2	93	1	0	0	0	0	0	0	0	1	2301	1451	51	3		3	C5orf42	5	37169007	Silent	SNP	T	TCGA-DJ-A2PP-01A-11D-A19J-08		37169007	143746253	8	2060											
PCDHGA4	56111	broad.mit.edu	37	chr5	140736469	140736469	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agatcctgtaccccaccttcCctactgatggctccactggt	7	16	0	2			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr5:140736469C>A	ENST00000571252.1	+	1	1702	c.1702C>A	c.(1702-1704)Cct>Act	p.P568T	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	568					homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCACCTTCCCTACTGATGG	0.577																																						ENST00000571252.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(1702-1704)Cct>Act									188	198	195					5																	140736469		2197	4297	6494	SO:0001583	missense	0							g.chr5:140736469C>A	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.1702C>A	5.37:g.140736469C>A	ENSP00000458570:p.Pro568Thr					PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	p.P568T	NM_018917.2	NP_061740.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1702	+								Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	c.1702C>A	CCDS58979.1																																																																																				0.577	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		32	302	1	0	2.80507e-11	0.050027	3.24336e-11	32	302					A	140736469	C	A	140736469	3	1	93	1	0	0	0	0	1	0	0	0	11556	623	22	4	1704	4	PCDHGA4	5	140736469	Missense_Mutation	SNP	C	TCGA-DJ-A2PP-01A-11D-A19J-08	103567462	140736469	40178791	9	2061											
TULP4	56995	broad.mit.edu	37	chr6	158910761	158910761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcaaatcacccaaactccCaaggtaatctcagtctttgg	6	12	3	0			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr6:158910761C>T	ENST00000367097.3	+	9	2985	c.1628C>T	c.(1627-1629)cCa>cTa	p.P543L	TULP4_ENST00000367094.2_Missense_Mutation_p.P543L	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	543					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CCCAAACTCCCAAGGTAATCT	0.478																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1627-1629)cCa>cTa		tubby like protein 4							115	104	108					6																	158910761		2203	4300	6503	SO:0001583	missense	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158910761C>T		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"WD repeat domain containing"	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.1628C>T	6.37:g.158910761C>T	ENSP00000356064:p.Pro543Leu					TULP4_ENST00000367094.2_Missense_Mutation_p.P543L	p.P543L	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	9	2985	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	543					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	c.1628C>T	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.285665	0.80803	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	T;T	0.61859	0.07;0.91	5.57	5.57	0.84162	Tubby, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.40767	0.1130	L	0.40543	1.245	0.80722	D	1	B;B	0.30511	0.0;0.282	B;B	0.27076	0.003;0.076	T	0.43782	-0.9370	10	0.59425	D	0.04	-12.9817	19.5417	0.95277	0.0:1.0:0.0:0.0	.	543;543	Q9NRJ4-2;Q9NRJ4	.;TULP4_HUMAN	L	543	ENSP00000356064:P543L;ENSP00000356061:P543L	ENSP00000356061:P543L	P	+	2	0	TULP4	158830749	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.340000	0.79292	2.614000	0.88457	0.655000	0.94253	CCA		0.478	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		8	57	0	0	0	0.038147	0	8	57					T	158910761	C	T	158910761	3	4	93	1	0	0	0	0	1	0	0	0	16773	594	21	2	1662	2	TULP4	6	158910761	Missense_Mutation	SNP	C	TCGA-DJ-A2PP-01A-11D-A19J-08		158910761	12204306	10	2062											
ANKMY2	57037	broad.mit.edu	37	chr7	16649339	16649339	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttctgatactttctctaatGatcttttcttgatacactgg	5	8	4	3			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr7:16649339G>A	ENST00000306999.2	-	7	1041	c.798C>T	c.(796-798)atC>atT	p.I266I		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	266						cilium (GO:0005929)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TTTCTCTAATGATCTTTTCTT	0.393																																						ENST00000306999.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(796-798)atC>atT		ankyrin repeat and MYND domain containing 2							106	107	107					7																	16649339		2203	4300	6503	SO:0001819	synonymous_variant	57037					cilium	zinc ion binding	g.chr7:16649339G>A	AK001740	CCDS5361.1	7p21	2013-01-10			ENSG00000106524	ENSG00000106524		"Zinc fingers, MYND-type", "Ankyrin repeat domain containing"	25370	protein-coding gene	gene with protein product						12477932	Standard	NM_020319		Approved	DKFZP564O043, ZMYND20	uc003sti.3	Q8IV38	OTTHUMG00000090806	ENST00000306999.2:c.798C>T	7.37:g.16649339G>A							p.I266I	NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	7	1041	-	Lung NSC(10;0.103)|all_lung(11;0.204)		266					A4D124|Q659G1|Q96BL3	Silent	SNP	ENST00000306999.2	37	c.798C>T	CCDS5361.1																																																																																				0.393	ANKMY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207600.2	NM_020319		9	66	0	0	0	0.047766	0	9	66					A	16649339	G	A	16649339	2	1	93	1	0	0	0	0	0	0	0	1	635	1280	45	2		2	ANKMY2	7	16649339	Silent	SNP	G	TCGA-DJ-A2PP-01A-11D-A19J-08		16649339	142489324	11	2063											
CCDC132	55610	broad.mit.edu	37	chr7	92869235	92869235	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgccatagagagtctccgGgtccctggaaaggtattgag	15	8	1	2			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr7:92869235G>A	ENST00000305866.5	+	2	218	c.90G>A	c.(88-90)cgG>cgA	p.R30R	CCDC132_ENST00000251739.5_Silent_p.R30R|CCDC132_ENST00000535481.1_Silent_p.R30R|CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000544910.1_5'UTR|CCDC132_ENST00000317751.6_5'UTR	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	30						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			AGAGTCTCCGGGTCCCTGGAA	0.393																																						ENST00000305866.5																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.(88-90)cgG>cgA		coiled-coil domain containing 132							96	103	101					7																	92869235		2203	4300	6503	SO:0001819	synonymous_variant	55610							g.chr7:92869235G>A	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.90G>A	7.37:g.92869235G>A						CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000544910.1_5'UTR|CCDC132_ENST00000535481.1_Silent_p.R30R|CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000251739.5_Silent_p.R30R	p.R30R	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		2	218	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		30					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Silent	SNP	ENST00000305866.5	37	c.90G>A	CCDS43617.1																																																																																				0.393	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		34	71	0	0	0	0.080422	0	34	71					A	92869235	G	A	92869235	2	1	93	1	0	0	0	0	0	0	0	1	2767	1219	43	2		2	CCDC132	7	92869235	Silent	SNP	G	TCGA-DJ-A2PP-01A-11D-A19J-08	76219896	92869235	66269428	12	2064											
TG	7038	broad.mit.edu	37	chr8	133935654	133935654	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccagtatcgagccagccagAaggacaggggcagtgggaag	17	9	0	1			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr8:133935654A>G	ENST00000220616.4	+	22	4640	c.4600A>G	c.(4600-4602)Aag>Gag	p.K1534E	TG_ENST00000542445.1_5'UTR|TG_ENST00000377869.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1534	Thyroglobulin type-1 11. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGCCAGCCAGAAGGACAGGGG	0.572																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(4600-4602)Aag>Gag		thyroglobulin							92	85	87					8																	133935654		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133935654A>G	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4600A>G	8.37:g.133935654A>G	ENSP00000220616:p.Lys1534Glu					TG_ENST00000377869.1_Intron|TG_ENST00000542445.1_5'UTR	p.K1534E	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	22	4640	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1534			Thyroglobulin type-1 11.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.4600A>G	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.297|6.297	0.422924|0.422924	0.11928|0.11928	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000519178|ENST00000543313;ENST00000220616	.|D	.|0.82344	.|-1.6	4.84|4.84	3.65|3.65	0.41850|0.41850	.|Thyroglobulin type-1 (5);	.|0.791890	.|0.11393	.|N	.|0.568605	T|T	0.74642|0.74642	0.3743|0.3743	L|L	0.33485|0.33485	1.01|1.01	0.58432|0.58432	D|D	0.999995|0.999995	.|B	.|0.17038	.|0.02	.|B	.|0.19148	.|0.024	T|T	0.67503|0.67503	-0.5654|-0.5654	5|10	.|0.72032	.|D	.|0.01	.|.	7.7537|7.7537	0.28911|0.28911	0.8135:0.0:0.0:0.1865|0.8135:0.0:0.0:0.1865	.|.	.|1534	.|P01266	.|THYG_HUMAN	G|E	53|340;1534	.|ENSP00000220616:K1534E	.|ENSP00000220616:K1534E	E|K	+|+	2|1	0|0	TG|TG	134004836|134004836	0.379000|0.379000	0.25123|0.25123	0.797000|0.797000	0.32132|0.32132	0.043000|0.043000	0.13939|0.13939	0.251000|0.251000	0.18257|0.18257	0.683000|0.683000	0.31428|0.31428	-0.509000|-0.509000	0.04479|0.04479	GAA|AAG		0.572	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		6	55	0	0	0	0.02938	0	6	55					G	133935654	A	G	133935654	3	3	93	1	0	0	0	0	1	0	0	0	15810	247	9	3	4686	3	TG	8	133935654	Missense_Mutation	SNP	A	TCGA-DJ-A2PP-01A-11D-A19J-08		133935654	12428368	13	2065											
ERCC6	2074	broad.mit.edu	37	chr10	50732508	50732508	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttcaaacgctcctcttttTtggacagaactctggctttc	6	11	3	1			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr10:50732508T>C	ENST00000355832.5	-	5	1046	c.968A>G	c.(967-969)aAa>aGa	p.K323R	ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.K323R|PGBD3_ENST00000374127.3_5'Flank|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.K323R|PGBD3_ENST00000603152.1_Missense_Mutation_p.K323R	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	323					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						CTCCTCTTTTTTGGACAGAAC	0.473								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.(967-969)aAa>aGa	Direct reversal of damage;Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 6							134	131	132					10																	50732508		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.chr10:50732508T>C	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.968A>G	10.37:g.50732508T>C	ENSP00000348089:p.Lys323Arg					PGBD3_ENST00000603152.1_Missense_Mutation_p.K323R|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.K323R|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.K323R	p.K323R	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN			5	1046	-			323					D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	c.968A>G	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	T	15.53	2.861715	0.51482	.	.	ENSG00000225830;ENSG00000258838;ENSG00000258838	ENST00000355832;ENST00000515869;ENST00000447839	D;T;T	0.84070	-1.8;3.19;3.19	6.03	0.698	0.18087	.	.	.	.	.	T	0.75347	0.3837	L	0.60455	1.87	0.09310	N	1	B;B	0.30824	0.296;0.006	B;B	0.19946	0.027;0.003	T	0.58470	-0.7631	9	0.32370	T	0.25	-9.4602	8.7255	0.34467	0.0:0.327:0.0:0.673	.	323;323	E7EV46;Q03468	.;ERCC6_HUMAN	R	323	ENSP00000348089:K323R;ENSP00000423550:K323R;ENSP00000387966:K323R	ENSP00000348089:K323R	K	-	2	0	ERCC6;RP11-123B3.6	50402514	0.005000	0.15991	0.000000	0.03702	0.638000	0.38207	0.663000	0.25053	-0.119000	0.11830	0.533000	0.62120	AAA		0.473	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		47	79	0	0	0	0.048971	0	47	79					C	50732508	T	C	50732508	3	2	93	1	0	0	0	0	1	0	0	0	5217	1841	64	3	3581	3	ERCC6	10	50732508	Missense_Mutation	SNP	T	TCGA-DJ-A2PP-01A-11D-A19J-08		50732508	84802239	14	2066											
POLR3B	55703	broad.mit.edu	37	chr12	106903265	106903265	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgtatgcctgcaagctgctcTtccaggaactacagtctatg	9	12	2	0			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr12:106903265T>A	ENST00000228347.4	+	28	3562	c.3340T>A	c.(3340-3342)Ttc>Atc	p.F1114I	POLR3B_ENST00000539066.1_Missense_Mutation_p.F1056I|RP11-144F15.1_ENST00000551505.1_Intron	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	1114					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						CAAGCTGCTCTTCCAGGAACT	0.443																																						ENST00000228347.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.(3340-3342)Ttc>Atc		polymerase (RNA) III (DNA directed) polypeptide B							164	137	146					12																	106903265		2203	4300	6503	SO:0001583	missense	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106903265T>A	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"RNA polymerase subunits"	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.3340T>A	12.37:g.106903265T>A	ENSP00000228347:p.Phe1114Ile					POLR3B_ENST00000539066.1_Missense_Mutation_p.F1056I|RP11-144F15.1_ENST00000551505.1_Intron	p.F1114I	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			28	3562	+			1114					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.3340T>A	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	T	19.70	3.875788	0.72180	.	.	ENSG00000013503	ENST00000228347;ENST00000539066	T;T	0.76186	-1.0;-1.0	5.57	5.57	0.84162	RNA polymerase Rpb2, domain 7 (1);	0.000000	0.85682	D	0.000000	T	0.71256	0.3318	L	0.33624	1.015	0.80722	D	1	B	0.25850	0.136	B	0.37888	0.26	T	0.69390	-0.5158	10	0.45353	T	0.12	-20.9796	15.742	0.77905	0.0:0.0:0.0:1.0	.	1114	Q9NW08	RPC2_HUMAN	I	1114;1056	ENSP00000228347:F1114I;ENSP00000445721:F1056I	ENSP00000228347:F1114I	F	+	1	0	POLR3B	105427395	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.126000	0.65437	0.533000	0.62120	TTC		0.443	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		36	59	0	0	0	0.09836	0	36	59					A	106903265	T	A	106903265	3	1	93	1	0	0	0	0	1	0	0	0	12229	1609	56	5	3450	5	POLR3B	12	106903265	Missense_Mutation	SNP	T	TCGA-DJ-A2PP-01A-11D-A19J-08		106903265	26948630	15	2067											
SLC12A4	6560	broad.mit.edu	37	chr16	67980860	67980860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgctcggcggcctgagcctCgccatagctctccaagaagc	11	16	1	2			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr16:67980860C>T	ENST00000316341.3	-	17	2361	c.2221G>A	c.(2221-2223)Gag>Aag	p.E741K	SLC12A4_ENST00000338335.3_Missense_Mutation_p.E741K|SLC12A4_ENST00000537830.2_Missense_Mutation_p.E735K|SLC12A4_ENST00000422611.2_Missense_Mutation_p.E743K|LCAT_ENST00000264005.5_5'Flank|SLC12A4_ENST00000576616.1_Missense_Mutation_p.E741K|SLC12A4_ENST00000572037.1_Missense_Mutation_p.E693K|CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000541864.2_Missense_Mutation_p.E710K	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	741					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCCTGAGCCTCGCCATAGCTC	0.637																																						ENST00000422611.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(2227-2229)Gag>Aag		solute carrier family 12 (potassium/chloride transporter), member 4	Bumetanide(DB00887)|Potassium Chloride(DB00761)						46	47	47					16																	67980860		2198	4300	6498	SO:0001583	missense	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67980860C>T		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"Solute carriers"	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.2221G>A	16.37:g.67980860C>T	ENSP00000318557:p.Glu741Lys					SLC12A4_ENST00000537830.2_Missense_Mutation_p.E735K|SLC12A4_ENST00000316341.3_Missense_Mutation_p.E741K|SLC12A4_ENST00000572037.1_Missense_Mutation_p.E693K|SLC12A4_ENST00000338335.3_Missense_Mutation_p.E741K|SLC12A4_ENST00000576616.1_Missense_Mutation_p.E741K|SLC12A4_ENST00000541864.2_Missense_Mutation_p.E710K	p.E743K	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2266	-		Ovarian(137;0.192)	741					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	c.2227G>A	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	C	33	5.214590	0.95104	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13;-3.13	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.93893	0.8046	L	0.49640	1.575	0.80722	D	1	B;B;D;B;B;B	0.69078	0.157;0.085;0.997;0.067;0.067;0.181	B;B;P;B;B;B	0.59056	0.056;0.014;0.851;0.031;0.009;0.014	D	0.92530	0.6032	10	0.33940	T	0.23	.	19.5025	0.95103	0.0:1.0:0.0:0.0	.	743;741;710;735;741;741	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	K	743;710;735;741;741	ENSP00000395983:E743K;ENSP00000438334:E710K;ENSP00000445962:E735K;ENSP00000343374:E741K;ENSP00000318557:E741K	ENSP00000318557:E741K	E	-	1	0	SLC12A4	66538361	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.977000	0.70492	2.605000	0.88082	0.655000	0.94253	GAG		0.637	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		26	51	0	0	0	0.030593	0	26	51					T	67980860	C	T	67980860	3	4	93	1	0	0	0	0	1	0	0	0	14385	893	31	1	1068	1	SLC12A4	16	67980860	Missense_Mutation	SNP	C	TCGA-DJ-A2PP-01A-11D-A19J-08		67980860	22373893	16	2068											
C17orf66	256957	broad.mit.edu	37	chr17	34185530	34185530	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaccagcatcctaagtgcCtatgagggggcagggtaggg	16	8	0	2			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr17:34185530C>T	ENST00000311880.2	-	10	1088		c.e10-1		C17orf66_ENST00000592980.1_Splice_Site	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN							hematopoietic progenitor cell differentiation (GO:0002244)					breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TCCTAAGTGCCTATGAGGGGG	0.562																																						ENST00000311880.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38						c.e10-1		chromosome 17 open reading frame 66							70	48	55					17																	34185530		2203	4300	6503	SO:0001630	splice_region_variant	256957						binding	g.chr17:34185530C>T																												ENST00000311880.2:c.940-1G>A	17.37:g.34185530C>T						C17orf66_ENST00000592980.1_Splice_Site		NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	10	1088	-		Ovarian(249;0.17)						B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Splice_Site	SNP	ENST00000311880.2	37		CCDS11299.1	.	.	.	.	.	.	.	.	.	.	c	12.12	1.843139	0.32606	.	.	ENSG00000172653	ENST00000311880	.	.	.	4.02	4.02	0.46733	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8297	0.52288	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C17orf66	31209643	1.000000	0.71417	0.925000	0.36789	0.370000	0.29829	3.197000	0.51028	2.235000	0.73313	0.305000	0.20034	.		0.562	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1		Intron	11	21	0	0	0	0.069234	0	11	21					T	34185530	C	T	34185530	5	4	93	1	0	0	0	0	0	0	1	0	1874	695	24	2	797	2	C17orf66	17	34185530	Splice_Site	SNP	C	TCGA-DJ-A2PP-01A-11D-A19J-08		34185530	47009680	17	2069											
SKA2	348235	broad.mit.edu	37	chr17	57232498	57232498	+	Frame_Shift_Del	DEL	T	T	-													cactttgcactcaccatcagTtccagcttatcgacctccgc							TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr17:57232498delT	ENST00000330137.7	-	1	132	c.27delA	c.(25-27)gaafs	p.E9fs	SKA2_ENST00000437036.2_5'UTR|SKA2_ENST00000583380.1_Frame_Shift_Del_p.E9fs|SKA2_ENST00000580541.1_5'UTR|SKA2_ENST00000581068.1_Frame_Shift_Del_p.E9fs|SKA2_ENST00000578105.1_Frame_Shift_Del_p.E9fs|PRR11_ENST00000262293.4_5'Flank|SKA2_ENST00000583927.1_5'UTR	NM_182620.3	NP_872426.1	Q8WVK7	SKA2_HUMAN	spindle and kinetochore associated complex subunit 2	9					cell division (GO:0051301)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|spindle microtubule (GO:0005876)	microtubule binding (GO:0008017)			lung(4)	4						TCACCATCAGTTCCAGCTTAT	0.562																																						ENST00000330137.7																			0				lung(4)	4						c.(25-27)gafs		spindle and kinetochore associated complex subunit 2							167	180	176					17																	57232498		2002	4156	6158	SO:0001589	frameshift_variant	348235				cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding	g.chr17:57232498delT	BC017873	CCDS45747.1, CCDS45748.1	17q23.2	2013-01-17	2009-08-19	2009-08-19	ENSG00000182628	ENSG00000182628			28006	protein-coding gene	gene with protein product			"family with sequence similarity 33, member A"	FAM33A		17093495, 19289083, 18583474	Standard	NM_182620		Approved	FLJ12758	uc010dde.1	Q8WVK7		ENST00000330137.7:c.27delA	17.37:g.57232498delT	ENSP00000333433:p.Glu9fs					SKA2_ENST00000580541.1_5'UTR|SKA2_ENST00000583927.1_5'UTR|SKA2_ENST00000437036.2_5'UTR|SKA2_ENST00000578105.1_Frame_Shift_Del_p.E9fs|SKA2_ENST00000583380.1_Frame_Shift_Del_p.E9fs|SKA2_ENST00000581068.1_Frame_Shift_Del_p.E9fs	p.E9fs	NM_182620.3	NP_872426.1	Q8WVK7	SKA2_HUMAN			1	132	-			9					A6NIL3|B3KPL3|E9PCB8	Frame_Shift_Del	DEL	ENST00000330137.7	37	c.27delA	CCDS45747.1																																																																																				0.562	SKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445939.1	NM_182620		19	292						19	292	---	---	---	---	-	57232498	T	-	57232498	7	5	93	1	0	1	0	1	0	0	0	0	14353	1722	60	0	486	0	SKA2	17	57232498	Frame_Shift_Del	DEL	T	TCGA-DJ-A2PP-01A-11D-A19J-08	23046968	57232498	23962712	18	2070											
PTPRS	5802	broad.mit.edu	37	chr19	5244253	5244253	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggactcgctggggggccccTggccgatggagttgacggcc	18	13	0	1			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr19:5244253T>C	ENST00000587303.1	-	10	1328	c.1229A>G	c.(1228-1230)cAg>cGg	p.Q410R	PTPRS_ENST00000588012.1_Missense_Mutation_p.Q397R|PTPRS_ENST00000353284.2_Missense_Mutation_p.Q397R|PTPRS_ENST00000592099.1_Missense_Mutation_p.Q397R|PTPRS_ENST00000348075.2_Missense_Mutation_p.Q397R|PTPRS_ENST00000357368.4_Missense_Mutation_p.Q410R|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.Q406R|PTPRS_ENST00000372412.4_Missense_Mutation_p.Q411R			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	410	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GGGGGGCCCCTGGCCGATGGA	0.672																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(1231-1233)cAg>cGg		protein tyrosine phosphatase, receptor type, S							40	39	39					19																	5244253		2202	4300	6502	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5244253T>C	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.1229A>G	19.37:g.5244253T>C	ENSP00000467537:p.Gln410Arg					PTPRS_ENST00000592099.1_Missense_Mutation_p.Q397R|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.Q397R|PTPRS_ENST00000357368.4_Missense_Mutation_p.Q410R|PTPRS_ENST00000587303.1_Missense_Mutation_p.Q410R|PTPRS_ENST00000353284.2_Missense_Mutation_p.Q397R|PTPRS_ENST00000348075.2_Missense_Mutation_p.Q397R|PTPRS_ENST00000262963.6_Missense_Mutation_p.Q406R	p.Q411R			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	11	1465	-			410			Fibronectin type-III 1.		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.1232A>G	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	T	2.336	-0.352355	0.05173	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41	3.93	3.93	0.45458	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.088729	0.44688	U	0.000423	T	0.35128	0.0921	N	0.04162	-0.26	0.20975	N	0.999815	B;B;P;B;B;P	0.48407	0.001;0.0;0.713;0.008;0.41;0.91	B;B;B;B;B;P	0.51657	0.011;0.003;0.444;0.007;0.401;0.676	T	0.32903	-0.9889	10	0.02654	T	1	.	12.9488	0.58388	0.0:0.0:0.0:1.0	.	410;397;401;397;410;423	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	R	423;411;410;410;410;406;397;410;401;397	ENSP00000361489:Q411R;ENSP00000349932:Q410R;ENSP00000262963:Q406R;ENSP00000269907:Q397R;ENSP00000327313:Q397R	ENSP00000262963:Q406R	Q	-	2	0	PTPRS	5195253	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	6.024000	0.70857	1.669000	0.50854	0.379000	0.24179	CAG		0.672	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			25	37	0	0	0	0.083992	0	25	37					C	5244253	T	C	5244253	3	2	93	1	0	0	0	0	1	0	0	0	12811	1580	55	3	4729	3	PTPRS	19	5244253	Missense_Mutation	SNP	T	TCGA-DJ-A2PP-01A-11D-A19J-08		5244253	53884730	19	2071											
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-													ctggttgggtttgcacttcaTcctcgaggcagcctcctcga					rs78182391		TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			3	6						3	6	---	---	---	---	-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	93	1	0	1	0	1	0	0	0	0	10727	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-DJ-A2PP-01A-11D-A19J-08		51239296	104031264	20	2072											
SNX17	9784	broad.mit.edu	37	chr2	27599354	27599354	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcttccccaggagtcaccTgatgccacccgggagtctat	9	15	3	1			TCGA-DJ-A2PQ-01A-11D-A18F-08	TCGA-DJ-A2PQ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa0bb18-d8f2-481e-bba2-0afa565b9cf0	b817f147-c91b-4189-925b-c23951bff31f	g.chr2:27599354T>C	ENST00000233575.2	+	14	1488	c.1266T>C	c.(1264-1266)ccT>ccC	p.P422P	ZNF513_ENST00000491924.1_5'Flank|SNX17_ENST00000542478.1_Silent_p.P208P|SNX17_ENST00000537606.1_Silent_p.P397P|SNX17_ENST00000543024.1_Silent_p.P208P	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	422	FERM-like.|PTB-like F3 module.				cholesterol catabolic process (GO:0006707)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|receptor-mediated endocytosis (GO:0006898)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)	low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol binding (GO:0035091)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAGTCACCTGATGCCACCC	0.552																																						ENST00000233575.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14						c.(1264-1266)ccT>ccC		sorting nexin 17							162	151	155					2																	27599354		2203	4300	6503	SO:0001819	synonymous_variant	9784				cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding	g.chr2:27599354T>C	D31764	CCDS1750.1, CCDS58704.1	2p23-p22	2008-05-21			ENSG00000115234	ENSG00000115234		"Sorting nexins"	14979	protein-coding gene	gene with protein product		605963				12169628, 15769472	Standard	NM_014748		Approved	KIAA0064	uc002rkg.2	Q15036	OTTHUMG00000097781	ENST00000233575.2:c.1266T>C	2.37:g.27599354T>C						SNX17_ENST00000543024.1_Silent_p.P208P|SNX17_ENST00000542478.1_Silent_p.P208P|SNX17_ENST00000537606.1_Silent_p.P397P	p.P422P	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN			14	1488	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		422					B4DQM7|Q53HN7|Q6IAS3	Silent	SNP	ENST00000233575.2	37	c.1266T>C	CCDS1750.1																																																																																				0.552	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215024.1	NM_014748		3	100	0	0	0	0.004672	0	3	100					C	27599354	T	C	27599354	2	2	94	1	0	0	0	0	0	0	0	1	14888	1567	55	3		3	SNX17	2	27599354	Silent	SNP	T	TCGA-DJ-A2PQ-01A-11D-A18F-08		27599354	215600019	1	2073											
ZNF80	7634	broad.mit.edu	37	chr3	113955140	113955140	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtggatcttactctgttggGcaaaagcagagtggtagcca	13	7	2	1			TCGA-DJ-A2PQ-01A-11D-A18F-08	TCGA-DJ-A2PQ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa0bb18-d8f2-481e-bba2-0afa565b9cf0	b817f147-c91b-4189-925b-c23951bff31f	g.chr3:113955140G>T	ENST00000482457.2	-	1	1285	c.782C>A	c.(781-783)gCc>gAc	p.A261D	RP11-553L6.2_ENST00000493033.1_RNA|RP11-553L6.2_ENST00000481773.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	261					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)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				ACTCTGTTGGGCAAAAGCAGA	0.403																																					GBM(23;986 1114 21716)	ENST00000482457.2																			0				NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32						c.(781-783)gCc>gAc		zinc finger protein 80							81	84	83					3																	113955140		2203	4300	6503	SO:0001583	missense	7634					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:113955140G>T	X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"Zinc fingers, C2H2-type"	13155	protein-coding gene	gene with protein product		194553	"zinc finger protein 80 (pT17)"			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.782C>A	3.37:g.113955140G>T	ENSP00000417192:p.Ala261Asp						p.A261D	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN			1	1285	-		Lung NSC(201;0.0233)|all_neural(597;0.0837)	261					Q6NSW4|Q6NT14	Missense_Mutation	SNP	ENST00000482457.2	37	c.782C>A	CCDS2979.1	.	.	.	.	.	.	.	.	.	.	G	9.182	1.023778	0.19433	.	.	ENSG00000174255	ENST00000482457	T	0.06142	3.34	2.94	-2.43	0.06522	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05135	0.0137	L	0.43701	1.375	0.09310	N	1	B	0.27732	0.187	B	0.20184	0.028	T	0.36212	-0.9757	9	0.66056	D	0.02	.	4.5062	0.11889	0.2661:0.3733:0.3606:0.0	.	261	P51504	ZNF80_HUMAN	D	261	ENSP00000417192:A261D	ENSP00000309812:A261D	A	-	2	0	ZNF80	115437830	0.000000	0.05858	0.004000	0.12327	0.157000	0.22087	-1.107000	0.03316	-0.423000	0.07394	-0.459000	0.05422	GCC		0.403	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136		5	92	1	0	0.000602214	0.000602	0.00106756	5	92					T	113955140	G	T	113955140	3	4	94	1	0	0	0	0	1	0	0	0	18165	1203	42	4	43	4	ZNF80	3	113955140	Missense_Mutation	SNP	G	TCGA-DJ-A2PQ-01A-11D-A18F-08		113955140	84067290	2	2074											
MATR3	9782	broad.mit.edu	37	chr5	138643991	138643991	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccccatctgtgctctatatGtgatttgccagttcattcta	6	11	4	1			TCGA-DJ-A2PQ-01A-11D-A18F-08	TCGA-DJ-A2PQ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa0bb18-d8f2-481e-bba2-0afa565b9cf0	b817f147-c91b-4189-925b-c23951bff31f	g.chr5:138643991G>T	ENST00000394805.3	+	2	1222	c.887G>T	c.(886-888)tGt>tTt	p.C296F	MATR3_ENST00000394800.2_Missense_Mutation_p.C296F|MATR3_ENST00000510056.1_Missense_Mutation_p.C296F|MATR3_ENST00000502929.1_Missense_Mutation_p.C296F|MATR3_ENST00000361059.2_Missense_Mutation_p.C296F|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000509990.1_Missense_Mutation_p.C296F|MATR3_ENST00000502499.1_Intron	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	296					cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGCTCTATATGTGATTTGCCA	0.378																																						ENST00000394800.2																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(886-888)tGt>tTt		matrin 3							119	120	120					5																	138643991		2203	4300	6503	SO:0001583	missense	9782					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding	g.chr5:138643991G>T	M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"myopathy, distal 2"	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.887G>T	5.37:g.138643991G>T	ENSP00000378284:p.Cys296Phe					MATR3_ENST00000510056.1_Missense_Mutation_p.C296F|MATR3_ENST00000509990.1_Missense_Mutation_p.C296F|MATR3_ENST00000502929.1_Missense_Mutation_p.C296F|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000361059.2_Missense_Mutation_p.C296F|MATR3_ENST00000394805.3_Missense_Mutation_p.C296F	p.C296F			P43243	MATR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		6	1436	+			296					B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Missense_Mutation	SNP	ENST00000394805.3	37	c.887G>T	CCDS4210.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.00|16.00	2.998560|2.998560	0.54147|0.54147	.|.	.|.	ENSG00000015479|ENSG00000015479	ENST00000509990;ENST00000361059;ENST00000502929;ENST00000394800;ENST00000394805;ENST00000504045;ENST00000510056|ENST00000515833	D;D;D;D;D;D;D|.	0.98947|.	-5.26;-5.26;-5.26;-5.26;-5.26;-5.26;-5.26|.	5.4|5.4	5.4|5.4	0.78164|0.78164	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60327|0.60327	0.2260|0.2260	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	D;P;D|.	0.65815|.	0.995;0.86;0.995|.	D;P;D|.	0.72982|.	0.979;0.774;0.979|.	T|T	0.53669|0.53669	-0.8406|-0.8406	10|5	0.87932|.	D|.	0|.	-10.153|-10.153	19.5239|19.5239	0.95196|0.95196	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	296;296;296|.	D6REM6;A8MXP9;P43243|.	.;.;MATR3_HUMAN|.	F|L	296|70	ENSP00000423533:C296F;ENSP00000354346:C296F;ENSP00000422319:C296F;ENSP00000378279:C296F;ENSP00000378284:C296F;ENSP00000423290:C296F;ENSP00000426743:C296F|.	ENSP00000354346:C296F|.	C|V	+|+	2|1	0|0	MATR3|MATR3	138671890|138671890	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.602000|8.602000	0.90868|0.90868	2.689000|2.689000	0.91719|0.91719	0.561000|0.561000	0.74099|0.74099	TGT|GTG		0.378	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	NM_018834		4	106	1	0	0.000602214	0.000602	0.00106756	4	106					T	138643991	G	T	138643991	3	4	94	1	0	0	0	0	1	0	0	0	9337	1377	48	4	889	4	MATR3	5	138643991	Missense_Mutation	SNP	G	TCGA-DJ-A2PQ-01A-11D-A18F-08		138643991	42271269	3	2075											
KIAA1549	57670	broad.mit.edu	37	chr7	138579148	138579148	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtctagcttgtctgtgcgGcatagtttccagtagaggat	12	7	2	1			TCGA-DJ-A2PQ-01A-11D-A18F-08	TCGA-DJ-A2PQ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa0bb18-d8f2-481e-bba2-0afa565b9cf0	b817f147-c91b-4189-925b-c23951bff31f	g.chr7:138579148G>A	ENST00000422774.1	-	10	4020	c.3972C>T	c.(3970-3972)tgC>tgT	p.C1324C	KIAA1549_ENST00000242365.4_Silent_p.C1274C|KIAA1549_ENST00000440172.1_Silent_p.C1324C			Q9HCM3	K1549_HUMAN	KIAA1549	1324						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TGTCTGTGCGGCATAGTTTCC	0.527			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(3970-3972)tgC>tgT		KIAA1549							167	161	163					7																	138579148		2139	4246	6385	SO:0001819	synonymous_variant	57670					integral to membrane		g.chr7:138579148G>A		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.3972C>T	7.37:g.138579148G>A						KIAA1549_ENST00000422774.1_Silent_p.C1324C|KIAA1549_ENST00000242365.4_Silent_p.C1274C	p.C1324C	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			10	4020	-			1324					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Silent	SNP	ENST00000422774.1	37	c.3972C>T	CCDS56513.1																																																																																				0.527	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			4	117	0	0	0	0.000602	0	4	117					A	138579148	G	A	138579148	2	1	94	1	0	0	0	0	0	0	0	1	8244	1195	42	2		2	KIAA1549	7	138579148	Silent	SNP	G	TCGA-DJ-A2PQ-01A-11D-A18F-08		138579148	20559515	4	2076											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A2PQ-01A-11D-A18F-08	TCGA-DJ-A2PQ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa0bb18-d8f2-481e-bba2-0afa565b9cf0	b817f147-c91b-4189-925b-c23951bff31f	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		19	20	0	0	0	0.002299	0	19	20					T	140453136	A	T	140453136	3	4	94	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2PQ-01A-11D-A18F-08	1873988	140453136	18685527	5	2077											
RDH10	157506	broad.mit.edu	37	chr8	74231385	74231385	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaatcatggtcatattgtgAcagttgcaagttccttggga	10	6	2	1			TCGA-DJ-A2PQ-01A-11D-A18F-08	TCGA-DJ-A2PQ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa0bb18-d8f2-481e-bba2-0afa565b9cf0	b817f147-c91b-4189-925b-c23951bff31f	g.chr8:74231385A>G	ENST00000240285.5	+	3	1258	c.580A>G	c.(580-582)Aca>Gca	p.T194A	RP11-434I12.2_ENST00000514599.1_RNA|RP11-434I12.2_ENST00000517475.1_RNA|RDH10_ENST00000519380.1_Missense_Mutation_p.T29A	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	194					bud elongation involved in lung branching (GO:0060449)|ear development (GO:0043583)|embryonic camera-type eye development (GO:0031076)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|gonad development (GO:0008406)|in utero embryonic development (GO:0001701)|metanephros development (GO:0001656)|neural crest cell development (GO:0014032)|nose development (GO:0043584)|phototransduction, visible light (GO:0007603)|primary lung bud formation (GO:0060431)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			TCATATTGTGACAGTTGCAAG	0.368																																						ENST00000240285.5																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11						c.(580-582)Aca>Gca		retinol dehydrogenase 10 (all-trans)							255	230	238					8																	74231385		2203	4300	6503	SO:0001583	missense	157506				retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr8:74231385A>G	AF456765	CCDS6213.1	8q21.11	2011-09-20			ENSG00000121039	ENSG00000121039	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	19975	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 16C, member 4"	607599				12407145, 19027726	Standard	NM_172037		Approved	SDR16C4	uc003xzi.3	Q8IZV5	OTTHUMG00000164492	ENST00000240285.5:c.580A>G	8.37:g.74231385A>G	ENSP00000240285:p.Thr194Ala					RP11-434I12.2_ENST00000517475.1_RNA|RP11-434I12.2_ENST00000514599.1_RNA|RDH10_ENST00000519380.1_Missense_Mutation_p.T29A	p.T194A	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)		3	1258	+	Breast(64;0.0954)		194						Missense_Mutation	SNP	ENST00000240285.5	37	c.580A>G	CCDS6213.1	.	.	.	.	.	.	.	.	.	.	A	19.74	3.883320	0.72410	.	.	ENSG00000121039	ENST00000240285;ENST00000521928;ENST00000519380	D;D;T	0.89485	-2.52;-2.52;0.71	5.42	5.42	0.78866	NAD(P)-binding domain (1);	0.048467	0.85682	D	0.000000	D	0.85191	0.5640	L	0.41236	1.265	0.58432	D	0.999998	P	0.41784	0.762	B	0.43990	0.438	T	0.82886	-0.0235	10	0.27785	T	0.31	.	10.8072	0.46524	0.8589:0.0:0.0:0.141	.	194	Q8IZV5	RDH10_HUMAN	A	194;29;29	ENSP00000240285:T194A;ENSP00000429727:T29A;ENSP00000428132:T29A	ENSP00000240285:T194A	T	+	1	0	RDH10	74393939	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.973000	0.76116	2.275000	0.75901	0.528000	0.53228	ACA		0.368	RDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378982.1			3	109	0	0	0	0.004672	0	3	109					G	74231385	A	G	74231385	3	3	94	1	0	0	0	0	1	0	0	0	13189	275	10	3	590	3	RDH10	8	74231385	Missense_Mutation	SNP	A	TCGA-DJ-A2PQ-01A-11D-A18F-08		74231385	72132637	6	2078											
INHBE	83729	broad.mit.edu	37	chr12	57850257	57850257	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcttaagatccgagccaatGagcctggagcaggccgggcc	14	12	0	2			TCGA-DJ-A2PQ-01A-11D-A18F-08	TCGA-DJ-A2PQ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa0bb18-d8f2-481e-bba2-0afa565b9cf0	b817f147-c91b-4189-925b-c23951bff31f	g.chr12:57850257G>A	ENST00000266646.2	+	2	895	c.679G>A	c.(679-681)Gag>Aag	p.E227K	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	227					growth (GO:0040007)	extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						CCGAGCCAATGAGCCTGGAGC	0.602											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(191;1808 2166 15720 36624 50371)	ENST00000266646.2																			0				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						c.(679-681)Gag>Aag		inhibin, beta E							68	81	77					12																	57850257		2203	4300	6503	SO:0001583	missense	83729				growth	extracellular region	growth factor activity|hormone activity	g.chr12:57850257G>A		CCDS8939.1	12q13.2	2008-02-05				ENSG00000139269			24029	protein-coding gene	gene with protein product		612031				12242034	Standard	NM_031479		Approved	activin, MGC4638	uc001snw.3	P58166		ENST00000266646.2:c.679G>A	12.37:g.57850257G>A	ENSP00000266646:p.Glu227Lys		OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1026	INHBE_ENST00000551553.1_3'UTR	p.E227K	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN			2	895	+			227						Missense_Mutation	SNP	ENST00000266646.2	37	c.679G>A	CCDS8939.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.068344	0.36470	.	.	ENSG00000139269	ENST00000547970;ENST00000266646	D;T	0.81739	-1.53;-1.27	4.79	3.89	0.44902	.	0.627936	0.16611	N	0.206900	T	0.76478	0.3993	L	0.58428	1.81	0.09310	N	1	B	0.12630	0.006	B	0.12837	0.008	T	0.63065	-0.6720	10	0.25751	T	0.34	-8.989	13.6832	0.62499	0.0:0.0:0.844:0.156	.	227	P58166	INHBE_HUMAN	K	172;227	ENSP00000450212:E172K;ENSP00000266646:E227K	ENSP00000266646:E227K	E	+	1	0	INHBE	56136524	0.392000	0.25229	0.004000	0.12327	0.520000	0.34377	3.371000	0.52379	1.365000	0.46057	0.655000	0.94253	GAG		0.602	INHBE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406773.1	NM_031479		5	124	0	0	0	0.001168	0	5	124					A	57850257	G	A	57850257	3	1	94	1	0	0	0	0	1	0	0	0	7744	1291	45	2	685	2	INHBE	12	57850257	Missense_Mutation	SNP	G	TCGA-DJ-A2PQ-01A-11D-A18F-08		57850257	76001638	7	2079											
ZNF598	90850	broad.mit.edu	37	chr16	2053624	2053629	+	In_Frame_Del	DEL	ATGCGT	ATGCGT	-													aggccctgctcacctgtacaAtgcgtacacctttccatctg					rs373909745		TCGA-DJ-A2PQ-01A-11D-A18F-08	TCGA-DJ-A2PQ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa0bb18-d8f2-481e-bba2-0afa565b9cf0	b817f147-c91b-4189-925b-c23951bff31f	g.chr16:2053624_2053629delATGCGT	ENST00000563630.1	-	2	400_405	c.158_163delACGCAT	c.(157-165)tacgcattg>ttg	p.YA53del	ZNF598_ENST00000431526.1_In_Frame_Del_p.YA108del|ZNF598_ENST00000562103.1_In_Frame_Del_p.YA53del			Q86UK7	ZN598_HUMAN	zinc finger protein 598	108							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CACCTGTACAATGCGTACACCTTTCC	0.568																																						ENST00000563630.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						c.(157-165)ttg>t		zinc finger protein 598																																				SO:0001651	inframe_deletion	90850					intracellular	zinc ion binding	g.chr16:2053624_2053629delATGCGT	BC029270		16p13.3	2008-05-02				ENSG00000167962		"Zinc fingers, C2H2-type"	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.158_163delACGCAT	16.37:g.2053624_2053629delATGCGT	ENSP00000455882:p.Tyr53_Ala54del					ZNF598_ENST00000562103.1_In_Frame_Del_p.YAL53del|ZNF598_ENST00000431526.1_In_Frame_Del_p.YAL108del	p.YAL53del			Q86UK7	ZN598_HUMAN			2	400_405	-			108					Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	In_Frame_Del	DEL	ENST00000563630.1	37	c.158_163delACGCAT																																																																																					0.568	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		10	34						10	34	---	---	---	---	-	2053629	ATGCGT	-	2053624	7	5	94	1	0	1	0	1	0	0	0	0	18025	98	4	0	2430	0	ZNF598	16	2053624	In_Frame_Del	DEL	ATGCGT	TCGA-DJ-A2PQ-01A-11D-A18F-08		2053624	88301129	8	2080											
FBF1	85302	broad.mit.edu	37	chr17	73908312	73908312	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcagtgccagcctggcatgGaggtgcaaggggctggggtc	19	9	0	0			TCGA-DJ-A2PQ-01A-11D-A18F-08	TCGA-DJ-A2PQ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa0bb18-d8f2-481e-bba2-0afa565b9cf0	b817f147-c91b-4189-925b-c23951bff31f	g.chr17:73908312G>A	ENST00000586717.1	-	28	3552	c.3279C>T	c.(3277-3279)ctC>ctT	p.L1093L	FBF1_ENST00000319129.5_Silent_p.L1093L|RP11-552F3.12_ENST00000587556.1_Silent_p.L35L|MRPL38_ENST00000409963.3_5'Flank|FBF1_ENST00000389570.4_Silent_p.L1094L			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	1093					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						GCCTGGCATGGAGGTGCAAGG	0.632																																						ENST00000586717.1																			0				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						c.(3277-3279)ctC>ctT		Fas (TNFRSF6) binding factor 1							20	23	22					17																	73908312		2061	4195	6256	SO:0001819	synonymous_variant	85302							g.chr17:73908312G>A	AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"albatross"					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.3279C>T	17.37:g.73908312G>A						RP11-552F3.12_ENST00000587556.1_Silent_p.L35L|FBF1_ENST00000319129.5_Silent_p.L1093L|FBF1_ENST00000389570.4_Silent_p.L1094L	p.L1093L			A6NLR5	A6NLR5_HUMAN			28	3552	-			1093					B5MEM5|Q96IF6|Q96JG4|Q96MA8	Silent	SNP	ENST00000586717.1	37	c.3279C>T																																																																																					0.632	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000448945.2	NM_001080542		7	18	0	0	0	0.001984	0	7	18					A	73908312	G	A	73908312	2	1	94	1	0	0	0	0	0	0	0	1	5695	1161	41	2		2	FBF1	17	73908312	Silent	SNP	G	TCGA-DJ-A2PQ-01A-11D-A18F-08		73908312	7286898	9	2081											
OR7C2	26658	broad.mit.edu	37	chr19	15052786	15052786	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccttgcttgagaccttgacCattttgaggctgtccttctg	9	11	1	3			TCGA-DJ-A2PQ-01A-11D-A18F-08	TCGA-DJ-A2PQ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa0bb18-d8f2-481e-bba2-0afa565b9cf0	b817f147-c91b-4189-925b-c23951bff31f	g.chr19:15052786C>A	ENST00000248072.3	+	1	486	c.486C>A	c.(484-486)acC>acA	p.T162T		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					AGACCTTGACCATTTTGAGGC	0.507																																						ENST00000248072.3																			0				large_intestine(3)|lung(8)|ovary(2)|skin(2)	15						c.(484-486)acC>acA		olfactory receptor, family 7, subfamily C, member 2							222	218	220					19																	15052786		2203	4300	6503	SO:0001819	synonymous_variant	26658				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15052786C>A	U86255	CCDS12320.1	19p13.1	2012-08-09				ENSG00000127529		"GPCR / Class A : Olfactory receptors"	8374	protein-coding gene	gene with protein product				OR7C3			Standard	NM_012377		Approved	OR19-18	uc010xoc.2	O60412		ENST00000248072.3:c.486C>A	19.37:g.15052786C>A							p.T162T	NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN			1	486	+	Ovarian(108;0.203)		162					O43881|Q6IFP9	Silent	SNP	ENST00000248072.3	37	c.486C>A	CCDS12320.1																																																																																				0.507	OR7C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466281.1			85	130	1	0	2.22755e-30	0.00361	4.34373e-30	85	130					A	15052786	C	A	15052786	2	1	94	1	0	0	0	0	0	0	0	1	11218	581	21	4		4	OR7C2	19	15052786	Silent	SNP	C	TCGA-DJ-A2PQ-01A-11D-A18F-08		15052786	44076197	10	2082											
TRAPPC6A	79090	broad.mit.edu	37	chr19	45668203	45668203	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggacatccagctcctcccTgaaggccagcgtctcccggg	12	16	1	1			TCGA-DJ-A2PQ-01A-11D-A18F-08	TCGA-DJ-A2PQ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa0bb18-d8f2-481e-bba2-0afa565b9cf0	b817f147-c91b-4189-925b-c23951bff31f	g.chr19:45668203T>C	ENST00000585934.1	-	3	196	c.178A>G	c.(178-180)Agg>Ggg	p.R60G	TRAPPC6A_ENST00000006275.4_Missense_Mutation_p.R74G|TRAPPC6A_ENST00000588062.1_Missense_Mutation_p.Q37R|TRAPPC6A_ENST00000592647.1_Missense_Mutation_p.Q51R	NM_001270891.1	NP_001257820.1	O75865	TPC6A_HUMAN	trafficking protein particle complex 6A	60					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	8		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)		AGCTCCTCCCTGAAGGCCAGC	0.637																																						ENST00000006275.4																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	8						c.(220-222)Agg>Ggg		trafficking protein particle complex 6A							78	78	78					19																	45668203		2203	4300	6503	SO:0001583	missense	79090				vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding	g.chr19:45668203T>C	AF161407	CCDS12655.1, CCDS59395.1, CCDS59396.1, CCDS59397.1	19q13.32	2012-10-02				ENSG00000007255		"Trafficking protein particle complex"	23069	protein-coding gene	gene with protein product		610396					Standard	NM_024108		Approved	TRS33, MGC2650, HSPC289	uc002pav.4	O75865		ENST00000585934.1:c.178A>G	19.37:g.45668203T>C	ENSP00000468612:p.Arg60Gly					TRAPPC6A_ENST00000592647.1_Missense_Mutation_p.Q51R|TRAPPC6A_ENST00000585934.1_Missense_Mutation_p.R60G|TRAPPC6A_ENST00000588062.1_Missense_Mutation_p.Q37R	p.R74G	NM_024108.1	NP_077013.1	O75865	TPC6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)	3	238	-		all_neural(266;0.224)|Ovarian(192;0.231)	60					K7ERB1|K7ERQ4|Q9BQ45|Q9P092	Missense_Mutation	SNP	ENST00000585934.1	37	c.220A>G	CCDS59397.1	.	.	.	.	.	.	.	.	.	.	t	18.99	3.739103	0.69304	.	.	ENSG00000007255	ENST00000006275	T	0.42900	0.96	4.51	3.41	0.39046	NO signalling/Golgi transport  ligand-binding domain (1);	0.062767	0.64402	D	0.000011	T	0.33411	0.0862	L	0.41632	1.29	0.22266	N	0.999246	P;P	0.45569	0.752;0.861	P;B	0.44647	0.456;0.417	T	0.09662	-1.0664	10	0.27785	T	0.31	-16.4824	7.4296	0.27120	0.0:0.0:0.2217:0.7783	.	60;74	O75865;O75865-2	TPC6A_HUMAN;.	G	74	ENSP00000006275:R74G	ENSP00000006275:R74G	R	-	1	2	TRAPPC6A	50360043	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	2.013000	0.40942	1.671000	0.50874	0.460000	0.39030	AGG		0.637	TRAPPC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457556.1	NM_024108		3	80	0	0	0	0.000248	0	3	80					C	45668203	T	C	45668203	3	2	94	1	0	0	0	0	1	0	0	0	16460	1579	55	3	317	3	TRAPPC6A	19	45668203	Missense_Mutation	SNP	T	TCGA-DJ-A2PQ-01A-11D-A18F-08	30615417	45668203	13460780	11	2083											
NPTXR	23467	broad.mit.edu	37	chr22	39239340	39239341	+	Frame_Shift_Ins	INS	-	-	G													gtcggccatggtgtcgcggcINSggggcccggcgccctggagg							TCGA-DJ-A2PQ-01A-11D-A18F-08	TCGA-DJ-A2PQ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa0bb18-d8f2-481e-bba2-0afa565b9cf0	b817f147-c91b-4189-925b-c23951bff31f	g.chr22:39239340_39239341insG	ENST00000333039.2	-	1	646_647	c.523_524insC	c.(523-525)cgcfs	p.R175fs		NM_014293.3	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	175						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.R175fs*106(1)		central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					GGTGTcgcggcggggcccggcg	0.767																																					Pancreas(139;2521 3281 36965)	ENST00000333039.2																			1	Insertion - Frameshift(1)	p.R175fs*106(1)	upper_aerodigestive_tract(1)	central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(523-525)ccgfs		neuronal pentraxin receptor																																				SO:0001589	frameshift_variant	23467					integral to membrane	metal ion binding	g.chr22:39239340_39239341insG	AF052163	CCDS33647.1	22q13.1	2007-01-25			ENSG00000221890	ENSG00000221890			7954	protein-coding gene	gene with protein product		609474				16497176	Standard	NM_014293		Approved		uc003awk.3	O95502	OTTHUMG00000150458	ENST00000333039.2:c.524dupC	22.37:g.39239344_39239344dupG	ENSP00000327545:p.Arg175fs						p.P175fs	NM_014293.3	NP_055108.2	O95502	NPTXR_HUMAN			1	646_647	-	Melanoma(58;0.04)		175						Frame_Shift_Ins	INS	ENST00000333039.2	37	c.523_524insC	CCDS33647.1																																																																																				0.767	NPTXR-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318194.2	NM_014293		2	4						2	4	---	---	---	---	G	39239341	-	G	39239340	7	5	94	1	0	1	1	0	0	0	0	0	10604	768	27	0	998	0	NPTXR	22	39239340	Frame_Shift_Ins	INS	-	TCGA-DJ-A2PQ-01A-11D-A18F-08		39239340	12065226	12	2084											
OSBPL9	114883	broad.mit.edu	37	chr1	52251509	52251509	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgacaagaagtctttttgctCaattgaaggggaatggaatg	12	4	2	3			TCGA-DJ-A2PR-01A-11D-A19J-08	TCGA-DJ-A2PR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be525078-277f-4f63-9e91-c9db569d85bf	93639137-87a5-48bb-a83b-e5114e86de70	g.chr1:52251509C>G	ENST00000428468.1	+	21	1861	c.1859C>G	c.(1858-1860)tCa>tGa	p.S620*	OSBPL9_ENST00000371714.1_Nonsense_Mutation_p.S607*|OSBPL9_ENST00000530544.1_Nonsense_Mutation_p.S539*|OSBPL9_ENST00000361556.5_Nonsense_Mutation_p.S510*|OSBPL9_ENST00000435686.2_Nonsense_Mutation_p.S455*|OSBPL9_ENST00000453295.1_Nonsense_Mutation_p.S603*|OSBPL9_ENST00000462759.1_Nonsense_Mutation_p.S442*|OSBPL9_ENST00000337809.4_Nonsense_Mutation_p.S625*|OSBPL9_ENST00000447887.1_Nonsense_Mutation_p.S630*|OSBPL9_ENST00000531828.1_Nonsense_Mutation_p.S455*|OSBPL9_ENST00000486942.1_Nonsense_Mutation_p.S442*|OSBPL9_ENST00000371710.3_Nonsense_Mutation_p.S638*			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	620					lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						TCTTTTTGCTCAATTGAAGGG	0.378																																						ENST00000371710.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						c.(1912-1914)tCa>tGa		oxysterol binding protein-like 9							133	123	126					1																	52251509		2203	4300	6503	SO:0001587	stop_gained	114883				lipid transport		lipid binding	g.chr1:52251509C>G	AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.1859C>G	1.37:g.52251509C>G	ENSP00000407168:p.Ser620*					OSBPL9_ENST00000361556.5_Nonsense_Mutation_p.S510*|OSBPL9_ENST00000486942.1_Nonsense_Mutation_p.S442*|OSBPL9_ENST00000371714.1_Nonsense_Mutation_p.S607*|OSBPL9_ENST00000462759.1_Nonsense_Mutation_p.S442*|OSBPL9_ENST00000435686.2_Nonsense_Mutation_p.S455*|OSBPL9_ENST00000337809.4_Nonsense_Mutation_p.S625*|OSBPL9_ENST00000447887.1_Nonsense_Mutation_p.S630*|OSBPL9_ENST00000428468.1_Nonsense_Mutation_p.S620*|OSBPL9_ENST00000453295.1_Nonsense_Mutation_p.S603*|OSBPL9_ENST00000530544.1_Nonsense_Mutation_p.S539*|OSBPL9_ENST00000531828.1_Nonsense_Mutation_p.S455*	p.S638*	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN			21	2095	+			620					B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Nonsense_Mutation	SNP	ENST00000428468.1	37	c.1913C>G	CCDS41332.3	.	.	.	.	.	.	.	.	.	.	C	37	6.563884	0.97667	.	.	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000435686;ENST00000428468;ENST00000453295;ENST00000530544;ENST00000531828;ENST00000361556;ENST00000462759;ENST00000486942	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-11.2621	19.6361	0.95733	0.0:1.0:0.0:0.0	.	.	.	.	X	607;638;625;630;455;620;603;539;455;510;442;442	.	ENSP00000337265:S625X	S	+	2	0	OSBPL9	52024097	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	7.607000	0.82883	2.878000	0.98634	0.650000	0.86243	TCA		0.378	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4			4	62	0	0	0	0.014758	0	4	62					G	52251509	C	G	52251509	4	3	95	1	0	0	0	0	0	1	0	0	11284	838	29	4	2045	4	OSBPL9	1	52251509	Nonsense_Mutation	SNP	C	TCGA-DJ-A2PR-01A-11D-A19J-08		52251509	196999112	1	2085											
PDE4DIP	9659	broad.mit.edu	37	chr1	144930820	144930821	+	Intron	INS	-	-	TT													atgggcttataatcaagaccINStttaatcatgctaagagcta							TCGA-DJ-A2PR-01A-11D-A19J-08	TCGA-DJ-A2PR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be525078-277f-4f63-9e91-c9db569d85bf	93639137-87a5-48bb-a83b-e5114e86de70	g.chr1:144930820_144930821insTT	ENST00000369354.3	-	6	826				PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000529945.1_Frame_Shift_Ins_p.G297fs|PDE4DIP_ENST00000313431.9_Frame_Shift_Ins_p.G297fs|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313382.9_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TAATCAAGACCTTTAATCATGC	0.505			T	PDGFRB	MPD																																	ENST00000529945.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(886-891)aagtctfs		phosphodiesterase 4D interacting protein																																				SO:0001627	intron_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144930820_144930821insTT	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.637-6999->AA	1.37:g.144930821_144930822dupTT						PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000313431.9_Frame_Shift_Ins_p.KS296fs|PDE4DIP_ENST00000530740.1_Intron	p.KS296fs			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	1	1327_1328	-			0					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Frame_Shift_Ins	INS	ENST00000369354.3	37	c.888_889insAA	CCDS30824.1																																																																																				0.505	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		14	208						14	208	---	---	---	---	TT	144930821	-	TT	144930820	6	5	95	0	1	1	1	0	0	0	0	0	11643	681	24	0		0	PDE4DIP	1	144930820	Intron	INS	-	TCGA-DJ-A2PR-01A-11D-A19J-08	92679311	144930820	104319801	2	2086											
CRELD1	78987	broad.mit.edu	37	chr3	9976166	9976166	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctagtcccagctatgctctGgggcctcagcctcttcctca	8	17	4	0			TCGA-DJ-A2PR-01A-11D-A19J-08	TCGA-DJ-A2PR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be525078-277f-4f63-9e91-c9db569d85bf	93639137-87a5-48bb-a83b-e5114e86de70	g.chr3:9976166G>A	ENST00000383811.3	+	1	643	c.44G>A	c.(43-45)tGg>tAg	p.W15*	CRELD1_ENST00000326434.5_Nonsense_Mutation_p.W15*|CRELD1_ENST00000452070.1_Nonsense_Mutation_p.W15*|CRELD1_ENST00000397170.3_Nonsense_Mutation_p.W15*|RP11-1020A11.1_ENST00000602411.1_RNA	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	15	Pro-rich.				cardiac septum development (GO:0003279)|endocardial cushion development (GO:0003197)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						GCTATGCTCTGGGGCCTCAGC	0.637																																						ENST00000383811.3																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						c.(43-45)tGg>tAg		cysteine-rich with EGF-like domains 1							65	61	62					3																	9976166		2203	4300	6503	SO:0001587	stop_gained	78987				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding	g.chr3:9976166G>A	AF452623	CCDS2593.1, CCDS33693.1	3p25.3	2005-12-08	2004-02-13		ENSG00000163703	ENSG00000163703			14630	protein-coding gene	gene with protein product		607170	"atrioventricular septal defect 2"	AVSD2		10922384, 12137942	Standard	NM_015513		Approved		uc003buf.3	Q96HD1	OTTHUMG00000128653	ENST00000383811.3:c.44G>A	3.37:g.9976166G>A	ENSP00000373322:p.Trp15*					CRELD1_ENST00000452070.1_Nonsense_Mutation_p.W15*|CRELD1_ENST00000397170.3_Nonsense_Mutation_p.W15*|CRELD1_ENST00000326434.5_Nonsense_Mutation_p.W15*	p.W15*	NM_015513.4	NP_056328.2	Q96HD1	CREL1_HUMAN			1	643	+			15			Pro-rich.		A8MX90|B2RAA9|Q6I9X5|Q8NFT4|Q9Y409	Nonsense_Mutation	SNP	ENST00000383811.3	37	c.44G>A	CCDS2593.1	.	.	.	.	.	.	.	.	.	.	G	31	5.071766	0.93950	.	.	ENSG00000163703	ENST00000397170;ENST00000383811;ENST00000452070;ENST00000326434	.	.	.	4.41	4.41	0.53225	.	0.477724	0.20414	N	0.092808	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1741	0.42929	0.0:0.0:0.8008:0.1992	.	.	.	.	X	15	.	ENSP00000321856:W15X	W	+	2	0	CRELD1	9951166	0.801000	0.28930	0.680000	0.29994	0.692000	0.40212	2.326000	0.43849	2.164000	0.68074	0.561000	0.74099	TGG		0.637	CRELD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250533.1	NM_015513		5	96	0	0	0	0.021553	0	5	96					A	9976166	G	A	9976166	4	1	95	1	0	0	0	0	0	1	0	0	3866	1357	47	2	46	2	CRELD1	3	9976166	Nonsense_Mutation	SNP	G	TCGA-DJ-A2PR-01A-11D-A19J-08		9976166	188046264	3	2087											
SLC39A7	7922	broad.mit.edu	37	chr6	33171577	33171577	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcatgatggtgctgattgCccaccttgagtgaggggtgg	15	7	1	4			TCGA-DJ-A2PR-01A-11D-A19J-08	TCGA-DJ-A2PR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be525078-277f-4f63-9e91-c9db569d85bf	93639137-87a5-48bb-a83b-e5114e86de70	g.chr6:33171577C>T	ENST00000374677.3	+	7	1770	c.1397C>T	c.(1396-1398)gCc>gTc	p.A466V	SLC39A7_ENST00000463972.1_3'UTR|HSD17B8_ENST00000374662.3_5'Flank|SLC39A7_ENST00000374675.3_Missense_Mutation_p.A466V|RXRB_ENST00000544186.1_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	466				CALLTEGGAVGSEIAGGAGPGWVLPFTAGGFIYVATVSVLP ELLREASPLQSLLEVLGLLGGVIMMVLIAHLE -> VPFSL KEEQWTVKLQVVQVLAGSCHLLQVALST (in Ref. 1; BAA11528 and 2; AAD12305). {ECO:0000305}.	transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GTGCTGATTGCCCACCTTGAG	0.597																																						ENST00000374677.3																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(1396-1398)gCc>gTc		solute carrier family 39 (zinc transporter), member 7							58	61	60					6																	33171577		2001	4159	6160	SO:0001583	missense	7922					endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity	g.chr6:33171577C>T	AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"Solute carriers"	4927	protein-coding gene	gene with protein product		601416	"HLA class II region expressed gene KE4"	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.1397C>T	6.37:g.33171577C>T	ENSP00000363809:p.Ala466Val					SLC39A7_ENST00000374675.3_Missense_Mutation_p.A466V|SLC39A7_ENST00000463972.1_3'UTR	p.A466V	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN			7	1770	+			466	CALLTEGGAVGSEIAGGAGPGWVLPFTAGGFIYVATVSVLP ELLREASPLQSLLEVLGLLGGVIMMVLIAHLE -> VPFSL KEEQWTVKLQVVQVLAGSCHLLQVALST (in Ref. 1; BAA11528 and 2; AAD12305).				B0UXF6|Q5STP8|Q9UIQ0	Missense_Mutation	SNP	ENST00000374677.3	37	c.1397C>T	CCDS43453.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024657	0.75390	.	.	ENSG00000112473	ENST00000374675;ENST00000446283;ENST00000445037;ENST00000374677	T;T	0.55234	0.53;0.53	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.74023	0.3662	M	0.90870	3.155	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.87578	0.994;0.998	T	0.80228	-0.1469	10	0.72032	D	0.01	-10.7891	15.3789	0.74637	0.0:1.0:0.0:0.0	.	447;466	B4DVK8;Q92504	.;S39A7_HUMAN	V	466;447;371;466	ENSP00000363807:A466V;ENSP00000363809:A466V	ENSP00000363807:A466V	A	+	2	0	SLC39A7	33279555	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	5.918000	0.69996	2.494000	0.84150	0.549000	0.68633	GCC		0.597	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	NM_006979		23	54	0	0	0	0.069288	0	23	54					T	33171577	C	T	33171577	3	4	95	1	0	0	0	0	1	0	0	0	14623	739	26	2	1423	2	SLC39A7	6	33171577	Missense_Mutation	SNP	C	TCGA-DJ-A2PR-01A-11D-A19J-08		33171577	137943490	4	2088											
AZGP1	563	broad.mit.edu	37	chr7	99569418	99569418	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tctttcagggtctccataaaGatgtcctccctggccttctg	8	13	4	1			TCGA-DJ-A2PR-01A-11D-A19J-08	TCGA-DJ-A2PR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be525078-277f-4f63-9e91-c9db569d85bf	93639137-87a5-48bb-a83b-e5114e86de70	g.chr7:99569418G>C	ENST00000292401.4	-	2	424	c.288C>G	c.(286-288)atC>atG	p.I96M	AZGP1_ENST00000411734.1_Missense_Mutation_p.I93M	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	96				Missing (in Ref. 9; AA sequence). {ECO:0000305}.	antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TCTCCATAAAGATGTCCTCCC	0.517																																						ENST00000411734.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16						c.(277-279)atC>atG		alpha-2-glycoprotein 1, zinc-binding							170	142	152					7																	99569418		2203	4300	6503	SO:0001583	missense	563				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity	g.chr7:99569418G>C	BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"Immunoglobulin superfamily / C1-set domain containing"	910	protein-coding gene	gene with protein product		194460	"alpha-2-glycoprotein 1, zinc"			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.288C>G	7.37:g.99569418G>C	ENSP00000292401:p.Ile96Met					AZGP1_ENST00000292401.4_Missense_Mutation_p.I96M	p.I93M			P25311	ZA2G_HUMAN			2	284	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		96					D6W5T8|O60386|Q5XKQ4|Q8N4N0	Missense_Mutation	SNP	ENST00000292401.4	37	c.279C>G	CCDS5680.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.107698	0.56291	.	.	ENSG00000160862	ENST00000292401;ENST00000411734	T;T	0.00784	5.7;5.7	1.51	1.51	0.23008	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.280826	0.18940	U	0.126948	T	0.02455	0.0075	M	0.62723	1.935	0.31687	N	0.642432	D	0.69078	0.997	D	0.72625	0.978	T	0.22103	-1.0226	10	0.72032	D	0.01	.	6.4356	0.21821	0.0:0.0:1.0:0.0	.	96	P25311	ZA2G_HUMAN	M	96;93	ENSP00000292401:I96M;ENSP00000396093:I93M	ENSP00000292401:I96M	I	-	3	3	AZGP1	99407354	0.918000	0.31147	0.998000	0.56505	0.500000	0.33767	0.343000	0.19944	1.130000	0.42092	0.313000	0.20887	ATC		0.517	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059387.4	NM_001185		6	118	0	0	0	0.021553	0	6	118					C	99569418	G	C	99569418	3	2	95	1	0	0	0	0	1	0	0	0	1239	932	33	4	620	4	AZGP1	7	99569418	Missense_Mutation	SNP	G	TCGA-DJ-A2PR-01A-11D-A19J-08		99569418	59569245	5	2089											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A2PR-01A-11D-A19J-08	TCGA-DJ-A2PR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be525078-277f-4f63-9e91-c9db569d85bf	93639137-87a5-48bb-a83b-e5114e86de70	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		20	19	0	0	0	0.043863	0	20	19					T	140453136	A	T	140453136	3	4	95	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2PR-01A-11D-A19J-08	40883718	140453136	18685527	6	2090											
SUOX	6821	broad.mit.edu	37	chr12	56396496	56396496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgttggcctatcaggaccatCggtgtagggtaagtagggaa	15	6	1	0	rs541589815		TCGA-DJ-A2PR-01A-11D-A19J-08	TCGA-DJ-A2PR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be525078-277f-4f63-9e91-c9db569d85bf	93639137-87a5-48bb-a83b-e5114e86de70	g.chr12:56396496C>T	ENST00000394109.3	+	2	944	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W	SUOX_ENST00000548274.1_Missense_Mutation_p.R74W|SUOX_ENST00000394115.2_Missense_Mutation_p.R74W|SUOX_ENST00000551841.2_Missense_Mutation_p.R74W|SUOX_ENST00000266971.3_Missense_Mutation_p.R74W|SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000356124.4_Missense_Mutation_p.R74W			P51687	SUOX_HUMAN	sulfite oxidase	74					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			TCAGGACCATCGGTGTAGGGT	0.562													C|||	1	0.000199681	8e-04	0	5008	,	,		20658	0		0	False		,,,				2504	0					ENST00000394109.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15						c.(220-222)Cgg>Tgg		sulfite oxidase							104	87	93					12																	56396496		2203	4300	6503	SO:0001583	missense	6821					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity	g.chr12:56396496C>T	BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.220C>T	12.37:g.56396496C>T	ENSP00000377668:p.Arg74Trp					SUOX_ENST00000548274.1_Missense_Mutation_p.R74W|SUOX_ENST00000394115.2_Missense_Mutation_p.R74W|SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000356124.4_Missense_Mutation_p.R74W|SUOX_ENST00000266971.3_Missense_Mutation_p.R74W|SUOX_ENST00000551841.2_Missense_Mutation_p.R74W	p.R74W			P51687	SUOX_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)		2	944	+			74						Missense_Mutation	SNP	ENST00000394109.3	37	c.220C>T	CCDS8901.2	.	.	.	.	.	.	.	.	.	.	C	15.46	2.840100	0.51057	.	.	ENSG00000139531	ENST00000356124;ENST00000266971;ENST00000394115;ENST00000552258;ENST00000548274;ENST00000546833;ENST00000551841;ENST00000394109	D;D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94;-2.94	4.5	2.53	0.30540	.	0.403745	0.24657	N	0.036668	D	0.85031	0.5604	L	0.48642	1.525	0.21984	N	0.999433	P	0.46327	0.876	B	0.36766	0.232	T	0.79584	-0.1743	10	0.87932	D	0	0.4961	5.0165	0.14339	0.2067:0.6861:0.0:0.1072	.	74	P51687	SUOX_HUMAN	W	74	ENSP00000348440:R74W;ENSP00000266971:R74W;ENSP00000377674:R74W;ENSP00000450245:R74W;ENSP00000377668:R74W	ENSP00000266971:R74W	R	+	1	2	SUOX	54682763	0.001000	0.12720	0.842000	0.33263	0.965000	0.64279	0.520000	0.22878	1.263000	0.44181	0.585000	0.79938	CGG		0.562	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250309.1	NM_000456		20	78	0	0	0	0.049695	0	20	78					T	56396496	C	T	56396496	3	4	95	1	0	0	0	0	1	0	0	0	15392	875	31	1	226	1	SUOX	12	56396496	Missense_Mutation	SNP	C	TCGA-DJ-A2PR-01A-11D-A19J-08		56396496	77455399	7	2091											
THBS1	7057	broad.mit.edu	37	chr15	39885603	39885603	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggctcttcttccaggttatGatgagtttaatgctgtggac	12	7	2	2			TCGA-DJ-A2PR-01A-11D-A19J-08	TCGA-DJ-A2PR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be525078-277f-4f63-9e91-c9db569d85bf	93639137-87a5-48bb-a83b-e5114e86de70	g.chr15:39885603G>A	ENST00000260356.5	+	19	3166	c.3001G>A	c.(3001-3003)Gat>Aat	p.D1001N	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1001	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		TCCAGGTTATGATGAGTTTAA	0.498																																						ENST00000260356.5																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(3001-3003)Gat>Aat		thrombospondin 1	Becaplermin(DB00102)						246	257	253					15																	39885603		2200	4297	6497	SO:0001583	missense	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39885603G>A		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.3001G>A	15.37:g.39885603G>A	ENSP00000260356:p.Asp1001Asn						p.D1001N	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	19	3166	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	1001			TSP C-terminal.		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	c.3001G>A	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214235	0.79352	.	.	ENSG00000137801	ENST00000260356	D	0.91351	-2.83	5.77	4.86	0.63082	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.37261	N	0.002161	D	0.94745	0.8304	M	0.77486	2.375	0.58432	D	0.999998	D;D	0.69078	0.997;0.958	D;P	0.68765	0.96;0.623	D	0.95165	0.8285	10	0.72032	D	0.01	-21.2984	14.6653	0.68904	0.0699:0.0:0.9301:0.0	.	916;1001	B4E3J7;P07996	.;TSP1_HUMAN	N	1001	ENSP00000260356:D1001N	ENSP00000260356:D1001N	D	+	1	0	THBS1	37672895	1.000000	0.71417	0.992000	0.48379	0.970000	0.65996	5.337000	0.65941	1.429000	0.47314	0.655000	0.94253	GAT		0.498	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		17	415	0	0	0	0.038395	0	17	415					A	39885603	G	A	39885603	3	1	95	1	0	0	0	0	1	0	0	0	15850	1290	45	2	3071	2	THBS1	15	39885603	Missense_Mutation	SNP	G	TCGA-DJ-A2PR-01A-11D-A19J-08		39885603	62645789	8	2092											
SETD1A	9739	broad.mit.edu	37	chr16	30990483	30990483	+	Frame_Shift_Del	DEL	C	C	-													caggccccacggaggagtcaCcccccagtgcgcctctgcgt							TCGA-DJ-A2PR-01A-11D-A19J-08	TCGA-DJ-A2PR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be525078-277f-4f63-9e91-c9db569d85bf	93639137-87a5-48bb-a83b-e5114e86de70	g.chr16:30990483delC	ENST00000262519.8	+	14	4062	c.3376delC	c.(3376-3378)cccfs	p.P1127fs		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1127	Pro-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						GGAGGAGTCACCCCCCAGTGC	0.697																																						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.(3376-3378)ccfs		SET domain containing 1A							9	10	10					16																	30990483		2141	4248	6389	SO:0001589	frameshift_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.chr16:30990483delC	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.3376delC	16.37:g.30990483delC	ENSP00000262519:p.Pro1127fs						p.P1127fs	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			14	4062	+			1127			Pro-rich.		A6NP62|Q6PIF3|Q8TAJ6	Frame_Shift_Del	DEL	ENST00000262519.8	37	c.3376delC	CCDS32435.1																																																																																				0.697	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		2	4						2	4	---	---	---	---	-	30990483	C	-	30990483	7	5	95	1	0	1	0	1	0	0	0	0	14130	507	18	0	3426	0	SETD1A	16	30990483	Frame_Shift_Del	DEL	C	TCGA-DJ-A2PR-01A-11D-A19J-08		30990483	59364270	9	2093											
CDK5RAP3	80279	broad.mit.edu	37	chr17	46051311	46051311	+	Frame_Shift_Del	DEL	C	C	-													ttctagacattcactactttCactgcctaagaatcctggac							TCGA-DJ-A2PR-01A-11D-A19J-08	TCGA-DJ-A2PR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be525078-277f-4f63-9e91-c9db569d85bf	93639137-87a5-48bb-a83b-e5114e86de70	g.chr17:46051311delC	ENST00000338399.4	+	4	305	c.199delC	c.(199-201)cacfs	p.H67fs	RP11-6N17.9_ENST00000582262.1_RNA|CDK5RAP3_ENST00000536708.2_Frame_Shift_Del_p.H92fs	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	67					brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664)	membrane (GO:0016020)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						TCACTACTTTCACTGCCTAAG	0.463																																						ENST00000536708.2																			0				NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						c.(274-276)acfs		CDK5 regulatory subunit associated protein 3							125	124	124					17																	46051311		1896	4108	6004	SO:0001589	frameshift_variant	80279				brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding	g.chr17:46051311delC	AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465			18673	protein-coding gene	gene with protein product	"ischemic heart CDK5 activator-binding protein C53", "LXXLL/leucine-zipper-containing ARFbinding protein"	608202				10721722	Standard	NM_176096		Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000338399.4:c.199delC	17.37:g.46051311delC	ENSP00000344683:p.His67fs					CDK5RAP3_ENST00000338399.4_Frame_Shift_Del_p.H67fs|RP11-6N17.9_ENST00000582262.1_RNA	p.H92fs	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN			4	383	+			67					B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Frame_Shift_Del	DEL	ENST00000338399.4	37	c.274delC	CCDS42356.1																																																																																				0.463	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442913.1	NM_176096		7	196						7	196	---	---	---	---	-	46051311	C	-	46051311	7	5	95	1	0	1	0	1	0	0	0	0	3147	826	29	0	213	0	CDK5RAP3	17	46051311	Frame_Shift_Del	DEL	C	TCGA-DJ-A2PR-01A-11D-A19J-08		46051311	35143899	10	2094											
MAP3K3	4215	broad.mit.edu	37	chr17	61762904	61762904	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atcccctgagcagtgcagaaAattccttgtctggaagctgc	10	11	1	2			TCGA-DJ-A2PR-01A-11D-A19J-08	TCGA-DJ-A2PR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be525078-277f-4f63-9e91-c9db569d85bf	93639137-87a5-48bb-a83b-e5114e86de70	g.chr17:61762904A>T	ENST00000361733.3	+	8	984	c.664A>T	c.(664-666)Aat>Tat	p.N222Y	MAP3K3_ENST00000584573.1_Missense_Mutation_p.N253Y|MAP3K3_ENST00000361357.3_Missense_Mutation_p.N253Y|MAP3K3_ENST00000577395.1_Missense_Mutation_p.N222Y|MAP3K3_ENST00000579585.1_Missense_Mutation_p.N253Y	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	222					activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CAGTGCAGAAAATTCCTTGTC	0.512																																						ENST00000361357.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(757-759)Aat>Tat		mitogen-activated protein kinase kinase kinase 3							125	103	110					17																	61762904		2203	4300	6503	SO:0001583	missense	4215				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr17:61762904A>T	U78876	CCDS32701.1, CCDS32702.1	17q	2011-06-09				ENSG00000198909		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6855	protein-coding gene	gene with protein product	"MAP/ERK kinase kinase 3", "MAPK/ERK kinase kinase 3"	602539		MEKK3		9006902	Standard	NM_002401		Approved	MAPKKK3	uc002jbf.3	Q99759		ENST00000361733.3:c.664A>T	17.37:g.61762904A>T	ENSP00000354485:p.Asn222Tyr					MAP3K3_ENST00000584573.1_Missense_Mutation_p.N253Y|MAP3K3_ENST00000579585.1_Missense_Mutation_p.N253Y|MAP3K3_ENST00000577395.1_Missense_Mutation_p.N222Y|MAP3K3_ENST00000361733.3_Missense_Mutation_p.N222Y	p.N253Y	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN			9	1075	+			222					B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Missense_Mutation	SNP	ENST00000361733.3	37	c.757A>T	CCDS32702.1	.	.	.	.	.	.	.	.	.	.	A	29.3	4.996548	0.93167	.	.	ENSG00000198909	ENST00000361357;ENST00000361733	T;T	0.70631	-0.5;-0.47	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.84297	0.5441	M	0.77103	2.36	0.80722	D	1	D;D;D;D	0.69078	0.995;0.997;0.995;0.997	P;D;D;D	0.70016	0.899;0.947;0.928;0.967	D	0.85739	0.1336	10	0.66056	D	0.02	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	222;190;222;253	Q1PBM3;Q96HN9;Q99759;Q99759-2	.;.;M3K3_HUMAN;.	Y	253;222	ENSP00000354927:N253Y;ENSP00000354485:N222Y	ENSP00000354927:N253Y	N	+	1	0	MAP3K3	59116636	1.000000	0.71417	0.975000	0.42487	0.991000	0.79684	9.237000	0.95368	2.371000	0.80710	0.533000	0.62120	AAT		0.512	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443867.1	NM_002401		32	62	0	0	0	0.045705	0	32	62					T	61762904	A	T	61762904	3	4	95	1	0	0	0	0	1	0	0	0	9251	14	1	5	791	5	MAP3K3	17	61762904	Missense_Mutation	SNP	A	TCGA-DJ-A2PR-01A-11D-A19J-08	15711593	61762904	19432306	11	2095											
MYH14	79784	broad.mit.edu	37	chr19	50720898	50720898	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccggccttttctgtgtggtCatcaacccgtacaagcagct	9	13	3	0			TCGA-DJ-A2PR-01A-11D-A19J-08	TCGA-DJ-A2PR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be525078-277f-4f63-9e91-c9db569d85bf	93639137-87a5-48bb-a83b-e5114e86de70	g.chr19:50720898C>T	ENST00000596571.1	+	2	432	c.432C>T	c.(430-432)gtC>gtT	p.V144V	MYH14_ENST00000262269.8_Silent_p.V144V|MYH14_ENST00000425460.1_Silent_p.V144V|MYH14_ENST00000598205.1_Silent_p.V144V|MYH14_ENST00000440075.2_Silent_p.V144V|MYH14_ENST00000376970.2_Silent_p.V144V|MYH14_ENST00000601313.1_Silent_p.V144V			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	144	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TCTGTGTGGTCATCAACCCGT	0.597																																						ENST00000440075.2																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(430-432)gtC>gtT		myosin, heavy chain 14, non-muscle							114	125	121					19																	50720898		2197	4292	6489	SO:0001819	synonymous_variant	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50720898C>T	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.432C>T	19.37:g.50720898C>T						MYH14_ENST00000601313.1_Silent_p.V144V|MYH14_ENST00000376970.2_Silent_p.V144V|MYH14_ENST00000596571.1_Silent_p.V144V|MYH14_ENST00000598205.1_Silent_p.V144V|MYH14_ENST00000425460.1_Silent_p.V144V|MYH14_ENST00000262269.8_Silent_p.V144V	p.V144V			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	3	479	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	144			Myosin head-like.		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	ENST00000596571.1	37	c.432C>T	CCDS59411.1																																																																																				0.597	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		13	164	0	0	0	0.09319	0	13	164					T	50720898	C	T	50720898	2	4	95	1	0	0	0	0	0	0	0	1	10033	813	29	2		2	MYH14	19	50720898	Silent	SNP	C	TCGA-DJ-A2PR-01A-11D-A19J-08		50720898	8408085	12	2096											
UTP14A	10813	broad.mit.edu	37	chrX	129040214	129040215	+	Splice_Site	INS	-	-	GAAGGGC													gaaccggcttgcagagaggtINSgaagggcaacgaggggaggg							TCGA-DJ-A2PR-01A-11D-A19J-08	TCGA-DJ-A2PR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be525078-277f-4f63-9e91-c9db569d85bf	93639137-87a5-48bb-a83b-e5114e86de70	g.chrX:129040214_129040215insGAAGGGC	ENST00000394422.3	+	1	54		c.e1+2		UTP14A_ENST00000371051.5_Splice_Site|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Splice_Site	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)						rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TGCAGAGAGGTGAAGGGCAACG	0.589																																						ENST00000394422.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						c.e1+2		UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)																																				SO:0001630	splice_region_variant	10813				rRNA processing	nucleolus|small-subunit processome	protein binding	g.chrX:129040214_129040215insGAAGGGC	AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"serologically defined colon cancer antigen 16"	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.26+2->GAAGGGC	X.37:g.129040215_129040221dupGAAGGGC						UTP14A_ENST00000425117.2_Splice_Site|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371051.5_Splice_Site		NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN			1	54	+								A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Splice_Site	INS	ENST00000394422.3	37		CCDS14615.1																																																																																				0.589	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649	Intron	16	48						16	48	---	---	---	---	GAAGGGC	129040215	-	GAAGGGC	129040214	8	5	95	1	0	1	1	0	0	0	1	0	17092	1710	59	0	30	0	UTP14A	23	129040214	Splice_Site	INS	-	TCGA-DJ-A2PR-01A-11D-A19J-08		129040214	26230346	13	2097											
HSD3B2	3284	broad.mit.edu	37	chr1	119965210	119965210	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttggttcccttgtggaccgGcacaaggagaccctgaagtc	13	11	0	2			TCGA-DJ-A2PS-01A-11D-A18F-08	TCGA-DJ-A2PS-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96c450fe-4e43-43b3-9adc-6549c6fff902	dd8e6cf7-7163-4b83-a429-6f19ce5690b3	g.chr1:119965210G>A	ENST00000543831.1	+	4	1335	c.1086G>A	c.(1084-1086)cgG>cgA	p.R362R	HSD3B2_ENST00000369416.3_Silent_p.R362R	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	362					androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)	p.R362R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	TTGTGGACCGGCACAAGGAGA	0.512																																						ENST00000543831.1																			1	Substitution - coding silent(1)	p.R362R(1)	kidney(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27						c.(1084-1086)cgG>cgA		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	NADH(DB00157)|Trilostane(DB01108)						45	41	42					1																	119965210		2203	4300	6503	SO:0001819	synonymous_variant	3284				androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:119965210G>A	BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	5218	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 2"	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.1086G>A	1.37:g.119965210G>A						HSD3B2_ENST00000369416.3_Silent_p.R362R	p.R362R	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	4	1335	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	362					A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Silent	SNP	ENST00000543831.1	37	c.1086G>A	CCDS902.1																																																																																				0.512	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034994.1	NM_000198		4	65	0	0	0	0.000602	0	4	65					A	119965210	G	A	119965210	2	1	96	1	0	0	0	0	0	0	0	1	7391	1190	42	2		2	HSD3B2	1	119965210	Silent	SNP	G	TCGA-DJ-A2PS-01A-11D-A18F-08		119965210	129285411	1	2098											
CDC40	51362	broad.mit.edu	37	chr6	110528751	110528751	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agataatcatcaagtgtctgCtaaatatattggttctgtag	8	5	4	1			TCGA-DJ-A2PS-01A-11D-A18F-08	TCGA-DJ-A2PS-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96c450fe-4e43-43b3-9adc-6549c6fff902	dd8e6cf7-7163-4b83-a429-6f19ce5690b3	g.chr6:110528751C>A	ENST00000368932.1	+	5	550	c.449C>A	c.(448-450)gCt>gAt	p.A150D	CDC40_ENST00000368930.1_Missense_Mutation_p.A150D|CDC40_ENST00000307731.1_Missense_Mutation_p.A150D			O60508	PRP17_HUMAN	cell division cycle 40	150					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.A150D(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		CAAGTGTCTGCTAAATATATT	0.269																																						ENST00000368932.1																			1	Substitution - Missense(1)	p.A150D(1)	kidney(1)	breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18						c.(448-450)gCt>gAt		cell division cycle 40							94	106	102					6																	110528751		2201	4290	6491	SO:0001583	missense	51362				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm		g.chr6:110528751C>A	AF015044	CCDS5081.1	6q22.1	2013-01-17	2013-01-17		ENSG00000168438	ENSG00000168438		"WD repeat domain containing"	17350	protein-coding gene	gene with protein product		605585	"cell division cycle 40 homolog (yeast)", "cell division cycle 40 homolog (S. cerevisiae)"			9769104, 9830021	Standard	NM_015891		Approved	PRP17, EHB3, PRPF17, FLJ10564	uc003pua.3	O60508	OTTHUMG00000015358	ENST00000368932.1:c.449C>A	6.37:g.110528751C>A	ENSP00000357928:p.Ala150Asp					CDC40_ENST00000368933.1_Missense_Mutation_p.A150D|CDC40_ENST00000307731.1_Missense_Mutation_p.A150D|CDC40_ENST00000368930.1_Missense_Mutation_p.A150D	p.A150D			O60508	PRP17_HUMAN		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)	5	550	+		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)	150					B2RBC5|O75471|Q5SRN0|Q9UPG1	Missense_Mutation	SNP	ENST00000368932.1	37	c.449C>A	CCDS5081.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.60|12.60	1.987752|1.987752	0.35036|0.35036	.|.	.|.	ENSG00000168438|ENSG00000168438	ENST00000368932;ENST00000368933;ENST00000368930;ENST00000307731;ENST00000439165;ENST00000453107|ENST00000431461	T;T;T;T|.	0.60920|.	0.28;0.15;0.15;0.28|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.360512|.	0.35349|.	N|.	0.003280|.	T|.	0.30230|.	0.0758|.	N|N	0.03608|0.03608	-0.345|-0.345	0.45046|0.45046	D|D	0.998061|0.998061	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|.	0.35475|.	-0.9787|.	10|.	0.10636|.	T|.	0.68|.	-15.4556|-15.4556	20.1739|20.1739	0.98173|0.98173	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	150|.	O60508|.	PRP17_HUMAN|.	D|X	150;150;150;150;150;47|42	ENSP00000357928:A150D;ENSP00000357929:A150D;ENSP00000357926:A150D;ENSP00000304370:A150D|.	ENSP00000304370:A150D|.	A|C	+|+	2|3	0|2	CDC40|CDC40	110635444|110635444	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.478000|5.478000	0.66806|0.66806	2.774000|2.774000	0.95407|0.95407	0.585000|0.585000	0.79938|0.79938	GCT|TGC		0.269	CDC40-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041791.1	NM_015891		5	135	1	0	0.00116845	0.001168	0.00211781	5	135					A	110528751	C	A	110528751	3	1	96	1	0	0	0	0	1	0	0	0	3070	797	28	4	463	4	CDC40	6	110528751	Missense_Mutation	SNP	C	TCGA-DJ-A2PS-01A-11D-A18F-08		110528751	60586316	2	2099											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A2PS-01A-11D-A18F-08	TCGA-DJ-A2PS-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96c450fe-4e43-43b3-9adc-6549c6fff902	dd8e6cf7-7163-4b83-a429-6f19ce5690b3	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		18	56	0	0	0	0.010504	0	18	56					T	140453136	A	T	140453136	3	4	96	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2PS-01A-11D-A18F-08		140453136	18685527	3	2100											
DENND4C	55667	broad.mit.edu	37	chr9	19360258	19360258	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taaggatcctttaggaaaaaGacccaatcctccccctgttt	6	12	0	1			TCGA-DJ-A2PS-01A-11D-A18F-08	TCGA-DJ-A2PS-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96c450fe-4e43-43b3-9adc-6549c6fff902	dd8e6cf7-7163-4b83-a429-6f19ce5690b3	g.chr9:19360258G>A	ENST00000380432.2	+	24	4355	c.4322G>A	c.(4321-4323)aGa>aAa	p.R1441K	DENND4C_ENST00000434457.2_Missense_Mutation_p.R1726K|DENND4C_ENST00000602925.1_Missense_Mutation_p.R1677K			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1441					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTAGGAAAAAGACCCAATCCT	0.363																																						ENST00000307015.9																			0				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2740-2742)aGa>aAa		DENN/MADD domain containing 4C							91	95	94					9																	19360258		2203	4300	6503	SO:0001583	missense	55667					integral to membrane		g.chr9:19360258G>A	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"DENN/MADD domain containing"	26079	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 55B", "chromosome 9 open reading frame 55"	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.4322G>A	9.37:g.19360258G>A	ENSP00000369797:p.Arg1441Lys					DENND4C_ENST00000540671.1_Missense_Mutation_p.R771K|DENND4C_ENST00000434457.2_Missense_Mutation_p.R1726K|DENND4C_ENST00000602925.1_Missense_Mutation_p.R1677K|DENND4C_ENST00000380432.2_Missense_Mutation_p.R1441K	p.R914K			Q5VZ89	DEN4C_HUMAN			25	4493	+			1441					A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	37	c.2741G>A		.	.	.	.	.	.	.	.	.	.	G	12.52	1.962511	0.34659	.	.	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000453857;ENST00000540671;ENST00000380432;ENST00000380427;ENST00000361024	T;T	0.22539	1.95;1.95	5.68	3.84	0.44239	.	0.114139	0.56097	D	0.000033	T	0.18593	0.0446	L	0.46157	1.445	0.33892	D	0.637434	B;B;B	0.31274	0.317;0.082;0.047	B;B;B	0.31946	0.138;0.059;0.034	T	0.23084	-1.0198	9	.	.	.	-12.0227	10.8682	0.46869	0.2057:0.0:0.7943:0.0	.	771;623;1441	B7Z660;Q5VZ89-3;Q5VZ89	.;.;DEN4C_HUMAN	K	1441;914;623;771;914;623;438	ENSP00000305795:R914K;ENSP00000443804:R771K	.	R	+	2	0	DENND4C	19350258	0.782000	0.28689	0.975000	0.42487	0.994000	0.84299	2.336000	0.43938	1.391000	0.46566	0.655000	0.94253	AGA		0.363	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		5	149	0	0	0	0.001984	0	5	149					A	19360258	G	A	19360258	3	1	96	1	0	0	0	0	1	0	0	0	4435	942	33	2	4416	2	DENND4C	9	19360258	Missense_Mutation	SNP	G	TCGA-DJ-A2PS-01A-11D-A18F-08		19360258	121853173	4	2101											
NUDT5	11164	broad.mit.edu	37	chr10	12215790	12215790	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggagagcagctgcttctggGgtttcaccatcatctatgag	12	10	4	2			TCGA-DJ-A2PS-01A-11D-A18F-08	TCGA-DJ-A2PS-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96c450fe-4e43-43b3-9adc-6549c6fff902	dd8e6cf7-7163-4b83-a429-6f19ce5690b3	g.chr10:12215790G>A	ENST00000491614.1	-	6	707	c.312C>T	c.(310-312)acC>acT	p.T104T	NUDT5_ENST00000378940.3_Silent_p.T104T|NUDT5_ENST00000537776.1_Silent_p.T104T|NUDT5_ENST00000378927.3_Silent_p.T104T|NUDT5_ENST00000378952.3_5'UTR|NUDT5_ENST00000378937.3_Silent_p.T117T			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5	104	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				D-ribose catabolic process (GO:0019303)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|ribonucleoside diphosphate catabolic process (GO:0009191)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)|magnesium ion binding (GO:0000287)|nucleoside-diphosphatase activity (GO:0017110)|snoRNA binding (GO:0030515)			breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				CTGCTTCTGGGGTTTCACCAT	0.458																																						ENST00000491614.1																			0				breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8						c.(310-312)acC>acT		nudix (nucleoside diphosphate linked moiety X)-type motif 5							154	160	158					10																	12215790		2203	4300	6503	SO:0001819	synonymous_variant	11164				D-ribose catabolic process|ribonucleoside diphosphate catabolic process	intracellular	ADP-ribose diphosphatase activity|magnesium ion binding	g.chr10:12215790G>A	AF155832	CCDS7089.1	10p14	2008-05-14			ENSG00000165609	ENSG00000165609		"Nudix motif containing"	8052	protein-coding gene	gene with protein product		609230				10373642	Standard	NM_014142		Approved	hYSAH1, YSA1H	uc001ilj.3	Q9UKK9	OTTHUMG00000017682	ENST00000491614.1:c.312C>T	10.37:g.12215790G>A						NUDT5_ENST00000378937.3_Silent_p.T117T|NUDT5_ENST00000378940.3_Silent_p.T104T|NUDT5_ENST00000378952.3_5'UTR|NUDT5_ENST00000378927.3_Silent_p.T104T|NUDT5_ENST00000537776.1_Silent_p.T104T	p.T104T			Q9UKK9	NUDT5_HUMAN			6	707	-		Renal(717;0.228)	104			Nudix hydrolase.		A8K516|Q6IAG0|Q9UH49	Silent	SNP	ENST00000491614.1	37	c.312C>T	CCDS7089.1																																																																																				0.458	NUDT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046811.1			73	148	0	0	0	0.01441	0	73	148					A	12215790	G	A	12215790	2	1	96	1	0	0	0	0	0	0	0	1	10742	1219	43	2		2	NUDT5	10	12215790	Silent	SNP	G	TCGA-DJ-A2PS-01A-11D-A18F-08		12215790	123318957	5	2102											
TSPAN4	7106	broad.mit.edu	37	chr11	865530	865530	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagattgacaggtatgcccaGcaagacctgaagaaaggctt	11	9	0	5	rs371470307		TCGA-DJ-A2PS-01A-11D-A18F-08	TCGA-DJ-A2PS-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96c450fe-4e43-43b3-9adc-6549c6fff902	dd8e6cf7-7163-4b83-a429-6f19ce5690b3	g.chr11:865530G>A	ENST00000397404.1	+	6	607	c.348G>A	c.(346-348)caG>caA	p.Q116Q	TSPAN4_ENST00000397406.1_Silent_p.Q116Q|TSPAN4_ENST00000397408.1_Silent_p.Q116Q|TSPAN4_ENST00000409543.2_Silent_p.Q116Q|TSPAN4_ENST00000397396.1_Silent_p.Q52Q|TSPAN4_ENST00000397397.2_Silent_p.Q116Q|TSPAN4_ENST00000397411.2_Silent_p.Q116Q|TSPAN4_ENST00000409531.1_Silent_p.Q135Q|TSPAN4_ENST00000346501.4_Intron|TSPAN4_ENST00000525201.1_Silent_p.Q52Q	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	116					protein complex assembly (GO:0006461)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	antigen binding (GO:0003823)|integrin binding (GO:0005178)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTATGCCCAGCAAGACCTGA	0.667																																						ENST00000397404.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3						c.(346-348)caG>caA		tetraspanin 4		G	,,,,,,	1,4405	2.1+/-5.4	0,1,2202	37	36	37		348,348,348,348,348,156,348	0.1	0.5	11		37	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TSPAN4	NM_001025234.1,NM_001025235.1,NM_001025236.1,NM_001025237.1,NM_001025238.1,NM_001025239.1,NM_003271.4	,,,,,,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,,,,,,	116/239,116/239,116/239,116/239,116/239,52/175,116/239	865530	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	0				protein complex assembly	integral to plasma membrane		g.chr11:865530G>A	AF022813	CCDS7721.1, CCDS41589.1	11p15.5	2013-02-14	2005-03-21	2005-03-21	ENSG00000214063	ENSG00000214063		"Tetraspanins"	11859	protein-coding gene	gene with protein product		602644	"transmembrane 4 superfamily member 7"	TM4SF7		9360996	Standard	XM_005253102		Approved	NAG-2, TSPAN-4, TETRASPAN	uc001lsf.1	O14817	OTTHUMG00000133305	ENST00000397404.1:c.348G>A	11.37:g.865530G>A						TSPAN4_ENST00000397397.2_Silent_p.Q116Q|TSPAN4_ENST00000346501.4_Intron|TSPAN4_ENST00000397396.1_Silent_p.Q52Q|TSPAN4_ENST00000397408.1_Silent_p.Q116Q|TSPAN4_ENST00000397411.2_Silent_p.Q116Q|TSPAN4_ENST00000525201.1_Silent_p.Q52Q|TSPAN4_ENST00000409531.1_Silent_p.Q135Q|TSPAN4_ENST00000397406.1_Silent_p.Q116Q|TSPAN4_ENST00000409543.2_Silent_p.Q116Q	p.Q116Q	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	6	607	+		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	116					Q6IAP6	Silent	SNP	ENST00000397404.1	37	c.348G>A	CCDS7721.1																																																																																				0.667	TSPAN4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257102.2			3	27	0	0	0	0.004672	0	3	27					A	865530	G	A	865530	2	1	96	1	0	0	0	0	0	0	0	1	16646	962	34	2		2	TSPAN4	11	865530	Silent	SNP	G	TCGA-DJ-A2PS-01A-11D-A18F-08		865530	134140986	6	2103											
ARAP1	116985	broad.mit.edu	37	chr11	72406076	72406076	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtccaatagtccttctcccTgatgcccacgttccggcgat	9	15	1	1			TCGA-DJ-A2PS-01A-11D-A18F-08	TCGA-DJ-A2PS-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96c450fe-4e43-43b3-9adc-6549c6fff902	dd8e6cf7-7163-4b83-a429-6f19ce5690b3	g.chr11:72406076T>C	ENST00000393609.3	-	27	3845	c.3643A>G	c.(3643-3645)Agg>Ggg	p.R1215G	ARAP1_ENST00000426523.1_Missense_Mutation_p.R970G|ARAP1_ENST00000455638.2_Missense_Mutation_p.R1215G|ARAP1_ENST00000334211.8_Missense_Mutation_p.R970G|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000429686.1_Missense_Mutation_p.R909G|ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000393605.3_Missense_Mutation_p.R975G|ARAP1_ENST00000359373.5_Missense_Mutation_p.R1215G	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1215	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.R975G(1)|p.R1215G(1)		cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TCCTTCTCCCTGATGCCCACG	0.587																																					Ovarian(102;1198 1520 13195 17913 37529)	ENST00000359373.5																			2	Substitution - Missense(2)	p.R975G(1)|p.R1215G(1)	endometrium(2)	cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						c.(3643-3645)Agg>Ggg		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1							159	114	129					11																	72406076		2200	4293	6493	SO:0001583	missense	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72406076T>C	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16925	protein-coding gene	gene with protein product		606646	"centaurin, delta 2"	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.3643A>G	11.37:g.72406076T>C	ENSP00000377233:p.Arg1215Gly					ARAP1_ENST00000429686.1_Missense_Mutation_p.R909G|ARAP1_ENST00000393609.3_Missense_Mutation_p.R1215G|ARAP1_ENST00000455638.2_Missense_Mutation_p.R1215G|ARAP1_ENST00000393605.3_Missense_Mutation_p.R975G|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000426523.1_Missense_Mutation_p.R970G|ARAP1_ENST00000334211.8_Missense_Mutation_p.R970G	p.R1215G			Q96P48	ARAP1_HUMAN			27	4494	-			1215			Ras-associating.		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	c.3643A>G	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	T	7.560	0.664465	0.14710	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000542596	T;T;T;T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29	5.36	4.2	0.49525	Ras-association (2);	0.374927	0.28006	N	0.016979	T	0.09949	0.0244	N	0.11427	0.14	0.29129	N	0.87977	B;P;P;B;B	0.45827	0.0;0.867;0.683;0.004;0.001	B;B;B;B;B	0.42522	0.01;0.39;0.196;0.01;0.006	T	0.08207	-1.0733	10	0.23891	T	0.37	.	11.3142	0.49381	0.0:0.0:0.1527:0.8473	.	970;909;1215;1215;975	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	G	1215;1215;975;970;1215;970;909;19	ENSP00000352332:R1215G;ENSP00000390461:R1215G;ENSP00000377230:R975G;ENSP00000335506:R970G;ENSP00000377233:R1215G;ENSP00000392264:R970G;ENSP00000403127:R909G;ENSP00000441741:R19G	ENSP00000335506:R970G	R	-	1	2	ARAP1	72083724	0.306000	0.24490	1.000000	0.80357	0.450000	0.32258	1.116000	0.31221	0.846000	0.35142	0.533000	0.62120	AGG		0.587	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		3	31	0	0	0	0.004672	0	3	31					C	72406076	T	C	72406076	3	2	96	1	0	0	0	0	1	0	0	0	838	1579	55	3	745	3	ARAP1	11	72406076	Missense_Mutation	SNP	T	TCGA-DJ-A2PS-01A-11D-A18F-08	71540546	72406076	62600440	7	2104											
MCF2L	23263	broad.mit.edu	37	chr13	113740522	113740522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgggcatcctgaaggccGtgaacgactccatgcacctc	10	15	0	2			TCGA-DJ-A2PS-01A-11D-A18F-08	TCGA-DJ-A2PS-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96c450fe-4e43-43b3-9adc-6549c6fff902	dd8e6cf7-7163-4b83-a429-6f19ce5690b3	g.chr13:113740522G>A	ENST00000375608.3	+	22	2480	c.2422G>A	c.(2422-2424)Gtg>Atg	p.V808M	MCF2L_ENST00000397030.1_Missense_Mutation_p.V811M|MCF2L_ENST00000375601.3_Missense_Mutation_p.V782M|MCF2L_ENST00000535094.2_Missense_Mutation_p.V778M|MCF2L_ENST00000421756.1_Missense_Mutation_p.V782M|MCF2L_ENST00000375604.2_Missense_Mutation_p.V835M|MCF2L_ENST00000442652.2_Missense_Mutation_p.V808M|MCF2L_ENST00000434480.2_Missense_Mutation_p.V784M|MCF2L_ENST00000375597.4_Missense_Mutation_p.V776M|MCF2L_ENST00000423482.2_Missense_Mutation_p.V776M			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	808	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CCTGAAGGCCGTGAACGACTC	0.622																																						ENST00000397030.1																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.(2431-2433)Gtg>Atg		MCF.2 cell line derived transforming sequence-like							91	74	80					13																	113740522		2203	4300	6503	SO:0001583	missense	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113740522G>A	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.2422G>A	13.37:g.113740522G>A	ENSP00000364758:p.Val808Met					MCF2L_ENST00000535094.2_Missense_Mutation_p.V778M|MCF2L_ENST00000375597.4_Missense_Mutation_p.V776M|MCF2L_ENST00000375604.2_Missense_Mutation_p.V835M|MCF2L_ENST00000375608.3_Missense_Mutation_p.V808M|MCF2L_ENST00000375601.3_Missense_Mutation_p.V782M|MCF2L_ENST00000423482.2_Missense_Mutation_p.V776M|MCF2L_ENST00000442652.2_Missense_Mutation_p.V808M|MCF2L_ENST00000421756.1_Missense_Mutation_p.V782M|MCF2L_ENST00000434480.2_Missense_Mutation_p.V784M	p.V811M			O15068	MCF2L_HUMAN			21	2468	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	808			DH.		A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37	c.2431G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.56|19.56	3.850375|3.850375	0.71719|0.71719	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000397017|ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749	.|T;T;T;T;T;T;T;T;T;T	.|0.65178	.|-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	4.67|4.67	4.67|4.67	0.58626|0.58626	.|Dbl homology (DH) domain (5);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83926|0.83926	0.5360|0.5360	M|M	0.92649|0.92649	3.33|3.33	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.80764	.|0.977;0.977;0.99;0.987;0.985;0.994	D|D	0.88732|0.88732	0.3237|0.3237	5|10	.|0.87932	.|D	.|0	.|.	17.635|17.635	0.88119|0.88119	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|776;778;835;740;776;808	.|E9PDN8;O15068-9;G5E9A1;E2QRA2;O15068-4;O15068	.|.;.;.;.;.;MCF2L_HUMAN	H|M	438|808;808;835;811;778;782;782;784;776;776;619	.|ENSP00000364758:V808M;ENSP00000401422:V808M;ENSP00000364754:V835M;ENSP00000380225:V811M;ENSP00000440374:V778M;ENSP00000397285:V782M;ENSP00000364751:V782M;ENSP00000407722:V784M;ENSP00000405639:V776M;ENSP00000364747:V776M	.|ENSP00000364747:V776M	R|V	+|+	2|1	0|0	MCF2L|MCF2L	112788523|112788523	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.234000|0.234000	0.25298|0.25298	9.574000|9.574000	0.98184|0.98184	2.157000|2.157000	0.67596|0.67596	0.196000|0.196000	0.17591|0.17591	CGT|GTG		0.622	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			3	43	0	0	0	0.004672	0	3	43					A	113740522	G	A	113740522	3	1	96	1	0	0	0	0	1	0	0	0	9379	1145	40	1	2680	1	MCF2L	13	113740522	Missense_Mutation	SNP	G	TCGA-DJ-A2PS-01A-11D-A18F-08		113740522	1429356	8	2105											
MAST1	22983	broad.mit.edu	37	chr19	12951846	12951846	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccgaaacttctcccccaacAcccccgcccacttctcgttt	3	22	2	0			TCGA-DJ-A2PS-01A-11D-A18F-08	TCGA-DJ-A2PS-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96c450fe-4e43-43b3-9adc-6549c6fff902	dd8e6cf7-7163-4b83-a429-6f19ce5690b3	g.chr19:12951846A>C	ENST00000251472.4	+	3	253	c.214A>C	c.(214-216)Acc>Ccc	p.T72P	MAST1_ENST00000591495.1_Missense_Mutation_p.T68P	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CTCCCCCAACACCCCCGCCCA	0.642																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(214-216)Acc>Ccc		microtubule associated serine/threonine kinase 1							88	93	91					19																	12951846		2203	4300	6503	SO:0001583	missense	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12951846A>C	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.214A>C	19.37:g.12951846A>C	ENSP00000251472:p.Thr72Pro					MAST1_ENST00000591495.1_Missense_Mutation_p.T68P	p.T72P	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			3	253	+			72						Missense_Mutation	SNP	ENST00000251472.4	37	c.214A>C	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	A	15.85	2.953944	0.53293	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.32023	1.47	5.97	4.95	0.65309	Microtubule-associated serine/threonine-protein kinase, domain (1);	0.560295	0.18178	N	0.149231	T	0.21062	0.0507	N	0.25060	0.705	0.34163	D	0.668871	B;B;B	0.19583	0.037;0.0;0.001	B;B;B	0.25405	0.06;0.008;0.005	T	0.18745	-1.0327	10	0.72032	D	0.01	-19.9269	6.2897	0.21053	0.7581:0.1623:0.0796:0.0	.	72;72;72	Q9Y2H9;B4DMN4;F5H2S9	MAST1_HUMAN;.;.	P	72	ENSP00000251472:T72P	ENSP00000251472:T72P	T	+	1	0	MAST1	12812846	0.125000	0.22332	0.981000	0.43875	0.995000	0.86356	1.398000	0.34554	1.069000	0.40788	0.533000	0.62120	ACC		0.642	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		8	82	0	0	0	0.003163	0	8	82					C	12951846	A	C	12951846	3	2	96	1	0	0	0	0	1	0	0	0	9324	159	6	5	224	5	MAST1	19	12951846	Missense_Mutation	SNP	A	TCGA-DJ-A2PS-01A-11D-A18F-08		12951846	46177137	9	2106											
SETD4	54093	broad.mit.edu	37	chr21	37420619	37420619	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttacttagtaatgtatgCccctaagtagcttcgaatca	6	10	1	0			TCGA-DJ-A2PS-01A-11D-A18F-08	TCGA-DJ-A2PS-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96c450fe-4e43-43b3-9adc-6549c6fff902	dd8e6cf7-7163-4b83-a429-6f19ce5690b3	g.chr21:37420619C>T	ENST00000399215.1	-	4	1655	c.283G>A	c.(283-285)Gca>Aca	p.A95T	SETD4_ENST00000399212.1_Missense_Mutation_p.A71T|SETD4_ENST00000399205.1_Missense_Mutation_p.A71T|SETD4_ENST00000332131.4_Missense_Mutation_p.A95T|SETD4_ENST00000399201.1_Missense_Mutation_p.A71T|SETD4_ENST00000481477.1_Intron|SETD4_ENST00000399208.2_Missense_Mutation_p.A95T|SETD4_ENST00000399207.1_Missense_Mutation_p.A95T			Q9NVD3	SETD4_HUMAN	SET domain containing 4	95	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						methyltransferase activity (GO:0008168)			autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						GTAATGTATGCCCCTAAGTAG	0.448																																						ENST00000399215.1																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						c.(283-285)Gca>Aca		SET domain containing 4							389	320	343					21																	37420619		2203	4300	6503	SO:0001583	missense	54093							g.chr21:37420619C>T	AK001660	CCDS13640.1, CCDS42923.1, CCDS74791.1, CCDS74792.1	21q22.13	2006-02-15	2006-02-15	2006-02-15	ENSG00000185917	ENSG00000185917			1258	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 27", "chromosome 21 open reading frame 18"	C21orf27, C21orf18			Standard	XM_005261000		Approved		uc021wiy.1	Q9NVD3	OTTHUMG00000086483	ENST00000399215.1:c.283G>A	21.37:g.37420619C>T	ENSP00000382163:p.Ala95Thr					SETD4_ENST00000481477.1_Intron|SETD4_ENST00000399201.1_Missense_Mutation_p.A71T|SETD4_ENST00000399207.1_Missense_Mutation_p.A95T|SETD4_ENST00000399212.1_Missense_Mutation_p.A71T|SETD4_ENST00000332131.4_Missense_Mutation_p.A95T|SETD4_ENST00000399205.1_Missense_Mutation_p.A71T|SETD4_ENST00000399208.2_Missense_Mutation_p.A95T	p.A95T			Q9NVD3	SETD4_HUMAN			4	1655	-			95			SET.		B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46	Missense_Mutation	SNP	ENST00000399215.1	37	c.283G>A	CCDS13640.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.273474	0.23221	.	.	ENSG00000185917	ENST00000399215;ENST00000399212;ENST00000332131;ENST00000399205;ENST00000399208;ENST00000399201;ENST00000399207;ENST00000424303;ENST00000429161;ENST00000446166	T;T;T;T;T;T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55	5.25	0.891	0.19224	SET domain (1);	0.867178	0.10438	N	0.674684	T	0.10809	0.0264	L	0.40543	1.245	0.19300	N	0.99997	B;B;B;B	0.09022	0.002;0.001;0.001;0.001	B;B;B;B	0.09377	0.004;0.003;0.003;0.004	T	0.40942	-0.9536	10	0.20046	T	0.44	21.3233	8.4109	0.32642	0.0:0.4064:0.4515:0.1422	.	71;95;71;95	A8MTS1;C9JWV5;Q9NVD3-3;Q9NVD3	.;.;.;SETD4_HUMAN	T	95;71;95;71;95;71;95;95;95;71	ENSP00000382163:A95T;ENSP00000382161:A71T;ENSP00000329189:A95T;ENSP00000382156:A71T;ENSP00000382159:A95T;ENSP00000382152:A71T;ENSP00000382158:A95T;ENSP00000399998:A95T;ENSP00000396837:A95T;ENSP00000413318:A71T	ENSP00000329189:A95T	A	-	1	0	SETD4	36342489	0.013000	0.17824	0.847000	0.33407	0.951000	0.60555	0.236000	0.17967	-0.134000	0.11516	0.563000	0.77884	GCA		0.448	SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194456.1	NM_017438		5	287	0	0	0	0.001984	0	5	287					T	37420619	C	T	37420619	3	4	96	1	0	0	0	0	1	0	0	0	14133	739	26	2	1090	2	SETD4	21	37420619	Missense_Mutation	SNP	C	TCGA-DJ-A2PS-01A-11D-A18F-08		37420619	10709276	10	2107											
VGLL1	51442	broad.mit.edu	37	chrX	135631112	135631112	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggagaatggcaaccctggCcagatagctggaagcacagg	15	9	0	2			TCGA-DJ-A2PS-01A-11D-A18F-08	TCGA-DJ-A2PS-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96c450fe-4e43-43b3-9adc-6549c6fff902	dd8e6cf7-7163-4b83-a429-6f19ce5690b3	g.chrX:135631112C>T	ENST00000370634.3	+	3	749	c.579C>T	c.(577-579)ggC>ggT	p.G193G	MIR934_ENST00000401241.1_RNA	NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial-like family member 1	193					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					GCAACCCTGGCCAGATAGCTG	0.562																																						ENST00000370634.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(577-579)ggC>ggT		vestigial like 1 (Drosophila)							66	67	67					X																	135631112		2203	4300	6503	SO:0001819	synonymous_variant	51442				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity	g.chrX:135631112C>T	AF137387	CCDS14658.1	Xq26.3	2014-03-03	2014-03-03		ENSG00000102243	ENSG00000102243			20985	protein-coding gene	gene with protein product		300583	"vestigial like 1 (Drosophila)"			10518497	Standard	NM_016267		Approved	TONDU, TDU	uc004ezy.3	Q99990	OTTHUMG00000022509	ENST00000370634.3:c.579C>T	X.37:g.135631112C>T							p.G193G	NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN			3	749	+	Acute lymphoblastic leukemia(192;0.000127)		193					Q5H915	Silent	SNP	ENST00000370634.3	37	c.579C>T	CCDS14658.1																																																																																				0.562	VGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058493.1	NM_016267		4	172	0	0	0	0.009096	0	4	172					T	135631112	C	T	135631112	2	4	96	1	0	0	0	0	0	0	0	1	17155	726	26	2		2	VGLL1	23	135631112	Silent	SNP	C	TCGA-DJ-A2PS-01A-11D-A18F-08		135631112	19639448	11	2108											
RANBP2	5903	broad.mit.edu	37	chr2	109365442	109365442	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagattgttgaaacttttgCcaacaaaagcgggcagtctg	11	7	1	2			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr2:109365442C>T	ENST00000283195.6	+	9	1256	c.1130C>T	c.(1129-1131)gCc>gTc	p.A377V		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	377					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						GAAACTTTTGCCAACAAAAGC	0.348																																						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.(1129-1131)gCc>gTc		RAN binding protein 2							200	215	210					2																	109365442		2203	4300	6503	SO:0001583	missense	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.chr2:109365442C>T	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.1130C>T	2.37:g.109365442C>T	ENSP00000283195:p.Ala377Val						p.A377V	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			9	1256	+			377					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.1130C>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.423130	0.62733	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.33216	1.42	5.53	5.53	0.82687	.	.	.	.	.	T	0.54919	0.1888	L	0.60455	1.87	0.37478	D	0.915879	D	0.76494	0.999	D	0.80764	0.994	T	0.59172	-0.7504	9	0.87932	D	0	-10.3724	19.8143	0.96560	0.0:1.0:0.0:0.0	.	377	P49792	RBP2_HUMAN	V	377	ENSP00000283195:A377V	ENSP00000283195:A377V	A	+	2	0	RANBP2	108731874	1.000000	0.71417	1.000000	0.80357	0.425000	0.31504	4.255000	0.58804	2.747000	0.94245	0.650000	0.86243	GCC		0.348	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		5	290	0	0	0	0.001168	0	5	290					T	109365442	C	T	109365442	3	4	97	1	0	0	0	0	1	0	0	0	13028	739	26	2	1164	2	RANBP2	2	109365442	Missense_Mutation	SNP	C	TCGA-DJ-A2PT-01A-11D-A18F-08		109365442	133833931	1	2109											
NCK1	4690	broad.mit.edu	37	chr3	136647064	136647064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaaaaacctaaaggataCcttaggtaagatatttttta	7	4	0	2			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr3:136647064C>T	ENST00000481752.1	+	2	385	c.221C>T	c.(220-222)aCc>aTc	p.T74I	NCK1_ENST00000469404.1_5'Flank|NCK1_ENST00000288986.2_Missense_Mutation_p.T74I			P16333	NCK1_HUMAN	NCK adaptor protein 1	74					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|response to other organism (GO:0051707)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|protein kinase inhibitor activity (GO:0004860)|receptor binding (GO:0005102)|receptor signaling complex scaffold activity (GO:0030159)|receptor tyrosine kinase binding (GO:0030971)			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						CTAAAGGATACCTTAGGTAAG	0.333																																						ENST00000481752.1																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(220-222)aCc>aTc		NCK adaptor protein 1							44	46	45					3																	136647064		2203	4300	6503	SO:0001583	missense	4690				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity	g.chr3:136647064C>T	X17576	CCDS3092.1, CCDS54644.1	3q21	2013-02-14			ENSG00000158092	ENSG00000158092		"SH2 domain containing"	7664	protein-coding gene	gene with protein product		600508		NCK		7806213, 9737977	Standard	XM_005247498		Approved	NCKalpha	uc003erh.3	P16333	OTTHUMG00000159781	ENST00000481752.1:c.221C>T	3.37:g.136647064C>T	ENSP00000417273:p.Thr74Ile					NCK1_ENST00000288986.2_Missense_Mutation_p.T74I	p.T74I			P16333	NCK1_HUMAN			2	385	+			74					B7Z751|D3DNE3	Missense_Mutation	SNP	ENST00000481752.1	37	c.221C>T	CCDS3092.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.92|19.92	3.915859|3.915859	0.73098|0.73098	.|.	.|.	ENSG00000158092|ENSG00000158092	ENST00000496489|ENST00000288986;ENST00000481752;ENST00000491539;ENST00000485096;ENST00000476286;ENST00000488930	.|T;T;T;T;T;T	.|0.68765	.|-0.35;-0.35;1.38;1.39;1.68;1.36	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	.|0.209128	.|0.48767	.|D	.|0.000173	T|T	0.67088|0.67088	0.2856|0.2856	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|P	.|0.41080	.|0.737	.|B	.|0.39876	.|0.312	T|T	0.66244|0.66244	-0.5972|-0.5972	5|10	.|0.37606	.|T	.|0.19	-23.893|-23.893	18.1586|18.1586	0.89701|0.89701	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|74	.|P16333	.|NCK1_HUMAN	S|I	62|74	.|ENSP00000288986:T74I;ENSP00000417273:T74I;ENSP00000419302:T74I;ENSP00000419677:T74I;ENSP00000418513:T74I;ENSP00000417729:T74I	.|ENSP00000288986:T74I	P|T	+|+	1|2	0|0	NCK1|NCK1	138129754|138129754	1.000000|1.000000	0.71417|0.71417	0.956000|0.956000	0.39512|0.39512	0.936000|0.936000	0.57629|0.57629	7.451000|7.451000	0.80668|0.80668	2.890000|2.890000	0.99128|0.99128	0.655000|0.655000	0.94253|0.94253	CCT|ACC		0.333	NCK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357307.1	NM_006153		11	23	0	0	0	0.008291	0	11	23					T	136647064	C	T	136647064	3	4	97	1	0	0	0	0	1	0	0	0	10219	507	18	2	223	2	NCK1	3	136647064	Missense_Mutation	SNP	C	TCGA-DJ-A2PT-01A-11D-A18F-08		136647064	61375366	2	2110											
TPRG1	285386	broad.mit.edu	37	chr3	189028237	189028237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcagtctcttctgtcccGctggaacccatggtccactg	11	14	2	0			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr3:189028237G>A	ENST00000345063.3	+	5	709	c.542G>A	c.(541-543)cGc>cAc	p.R181H	TPRG1_ENST00000433971.1_Missense_Mutation_p.R181H	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	181						cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		CTTCTGTCCCGCTGGAACCCA	0.473																																						ENST00000345063.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16						c.(541-543)cGc>cAc		tumor protein p63 regulated 1							80	78	79					3																	189028237		2203	4300	6503	SO:0001583	missense	285386							g.chr3:189028237G>A	AK125682	CCDS3292.1	3q28	2008-02-04	2008-01-16	2008-01-16	ENSG00000188001	ENSG00000188001			24759	protein-coding gene	gene with protein product			"family with sequence similarity 79, member B"	FAM79B			Standard	NM_198485		Approved	FLJ41238, FLJ43694	uc003frw.2	Q6ZUI0	OTTHUMG00000156321	ENST00000345063.3:c.542G>A	3.37:g.189028237G>A	ENSP00000341031:p.Arg181His					TPRG1_ENST00000433971.1_Missense_Mutation_p.R181H	p.R181H	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)	5	709	+	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	181						Missense_Mutation	SNP	ENST00000345063.3	37	c.542G>A	CCDS3292.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865563	0.71949	.	.	ENSG00000188001	ENST00000433971;ENST00000345063	.	.	.	5.83	4.93	0.64822	.	0.052144	0.64402	D	0.000001	T	0.61350	0.2340	M	0.74647	2.275	0.52099	D	0.999945	B	0.17465	0.022	B	0.10450	0.005	T	0.62248	-0.6894	9	0.87932	D	0	-2.1854	10.2396	0.43303	0.1661:0.0:0.8339:0.0	.	181	Q6ZUI0	TPRG1_HUMAN	H	181	.	ENSP00000341031:R181H	R	+	2	0	TPRG1	190510931	1.000000	0.71417	0.494000	0.27515	0.710000	0.40934	4.374000	0.59543	1.416000	0.47057	0.585000	0.79938	CGC		0.473	TPRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343931.1	NM_198485		4	60	0	0	0	0.009096	0	4	60					A	189028237	G	A	189028237	3	1	97	1	0	0	0	0	1	0	0	0	16415	1087	38	1	556	1	TPRG1	3	189028237	Missense_Mutation	SNP	G	TCGA-DJ-A2PT-01A-11D-A18F-08	52381173	189028237	8994193	3	2111											
PRDM8	56978	broad.mit.edu	37	chr4	81124216	81124216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accccgccgacggcgtgggcCccaccagactctatcccgcc	10	21	1	1			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr4:81124216C>T	ENST00000504452.1	+	8	2439	c.1600C>T	c.(1600-1602)Ccc>Tcc	p.P534S	PRDM8_ENST00000339711.4_Missense_Mutation_p.P534S|PRDM8_ENST00000415738.2_Missense_Mutation_p.P534S			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	534					corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						CGGCGTGGGCCCCACCAGACT	0.731																																						ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(1600-1602)Ccc>Tcc		PR domain containing 8							4	4	4					4																	81124216		1225	2945	4170	SO:0001583	missense	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81124216C>T	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.1600C>T	4.37:g.81124216C>T	ENSP00000423985:p.Pro534Ser					PRDM8_ENST00000415738.2_Missense_Mutation_p.P534S|PRDM8_ENST00000504452.1_Missense_Mutation_p.P534S	p.P534S	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN			10	2831	+			534					A8K7X2|Q6IQ36	Missense_Mutation	SNP	ENST00000504452.1	37	c.1600C>T	CCDS43243.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.742496	0.30865	.	.	ENSG00000152784	ENST00000504452;ENST00000339711;ENST00000415738	T;T;T	0.63744	-0.06;-0.06;-0.06	3.46	3.46	0.39613	.	0.221553	0.38959	N	0.001514	T	0.28599	0.0708	N	0.02011	-0.69	0.28984	N	0.888477	B	0.30068	0.267	B	0.25291	0.059	T	0.17776	-1.0358	10	0.18710	T	0.47	.	7.9823	0.30192	0.2441:0.7559:0.0:0.0	.	534	Q9NQV8	PRDM8_HUMAN	S	534	ENSP00000423985:P534S;ENSP00000339764:P534S;ENSP00000406998:P534S	ENSP00000339764:P534S	P	+	1	0	PRDM8	81343240	0.806000	0.28996	1.000000	0.80357	0.973000	0.67179	0.601000	0.24119	1.733000	0.51620	0.461000	0.40582	CCC		0.731	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			6	6	0	0	0	0.00308	0	6	6					T	81124216	C	T	81124216	3	4	97	1	0	0	0	0	1	0	0	0	12462	623	22	2	1610	2	PRDM8	4	81124216	Missense_Mutation	SNP	C	TCGA-DJ-A2PT-01A-11D-A18F-08		81124216	110030060	4	2112											
GPRIN3	285513	broad.mit.edu	37	chr4	90170054	90170054	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtttattttcccgttggaaaGctgtagactcagctgcagct	10	9	1	1	rs373856944		TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr4:90170054G>T	ENST00000609438.1	-	2	1726	c.1208C>A	c.(1207-1209)gCt>gAt	p.A403D	GPRIN3_ENST00000333209.4_Missense_Mutation_p.A403D	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	403										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CCGTTGGAAAGCTGTAGACTC	0.532																																						ENST00000333209.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36						c.(1207-1209)gCt>gAt		GPRIN family member 3							93	96	95					4																	90170054		2203	4300	6503	SO:0001583	missense	285513							g.chr4:90170054G>T	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.1208C>A	4.37:g.90170054G>T	ENSP00000476603:p.Ala403Asp						p.A403D	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	1726	-		Hepatocellular(203;0.114)	403					Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	37	c.1208C>A	CCDS34030.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.195046	0.38806	.	.	ENSG00000185477	ENST00000333209	T	0.13901	2.55	5.26	4.4	0.53042	.	0.519516	0.14456	N	0.318491	T	0.18045	0.0433	L	0.32530	0.975	0.09310	N	1	D	0.56746	0.977	P	0.53593	0.73	T	0.07009	-1.0795	10	0.72032	D	0.01	-1.683	8.4964	0.33130	0.0:0.1401:0.6374:0.2225	.	403	Q6ZVF9	GRIN3_HUMAN	D	403	ENSP00000328672:A403D	ENSP00000328672:A403D	A	-	2	0	GPRIN3	90389077	0.796000	0.28864	0.002000	0.10522	0.001000	0.01503	3.368000	0.52357	1.404000	0.46819	0.655000	0.94253	GCT		0.532	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		7	127	1	0	0.00198382	0.001984	0.00314675	7	127					T	90170054	G	T	90170054	3	4	97	1	0	0	0	0	1	0	0	0	6731	971	34	4	1126	4	GPRIN3	4	90170054	Missense_Mutation	SNP	G	TCGA-DJ-A2PT-01A-11D-A18F-08	9045838	90170054	100984222	5	2113											
PCDHA10	56139	broad.mit.edu	37	chr5	140237799	140237799	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacactgcactgaggtgctcGgcggcgcccaccgagggcgc	15	15	0	1			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr5:140237799G>A	ENST00000307360.5	+	1	2166	c.2166G>A	c.(2164-2166)tcG>tcA	p.S722S	PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	722					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGGTGCTCGGCGGCGCCCA	0.662																																						ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(2164-2166)tcG>tcA									25	22	23					5																	140237799		1321	2291	3612	SO:0001819	synonymous_variant	0							g.chr5:140237799G>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.2166G>A	5.37:g.140237799G>A						PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.S722S	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2166	+								A1L493|O75280|Q9NRU2	Silent	SNP	ENST00000307360.5	37	c.2166G>A	CCDS54921.1																																																																																				0.662	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		15	27	0	0	0	0.00245	0	15	27					A	140237799	G	A	140237799	2	1	97	1	0	0	0	0	0	0	0	1	11520	1103	39	1		1	PCDHA10	5	140237799	Silent	SNP	G	TCGA-DJ-A2PT-01A-11D-A18F-08		140237799	40677461	6	2114											
TBC1D7	51256	broad.mit.edu	37	chr6	13307947	13307947	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agtcagcagtctgccatcttCcagattcaagtattgttcaa	7	10	5	1			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr6:13307947C>A	ENST00000379300.3	-	6	793	c.550G>T	c.(550-552)Gaa>Taa	p.E184*	TBC1D7_ENST00000356436.4_Nonsense_Mutation_p.E184*|TBC1D7_ENST00000607658.1_Nonsense_Mutation_p.E157*|TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000343141.4_Nonsense_Mutation_p.E138*|TBC1D7_ENST00000379307.2_Nonsense_Mutation_p.E157*	NM_001143964.2|NM_016495.4	NP_001137436.1|NP_057579.1	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	184	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				activation of Rho GTPase activity (GO:0032862)|negative regulation of cilium assembly (GO:1902018)|negative regulation of TOR signaling (GO:0032007)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of Rab GTPase activity (GO:0032851)|response to growth factor (GO:0070848)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			CTGCCATCTTCCAGATTCAAG	0.423																																						ENST00000607658.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22						c.(469-471)Gaa>Taa		TBC1 domain family, member 7							87	82	84					6																	13307947		2203	4300	6503	SO:0001587	stop_gained	51256				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity	g.chr6:13307947C>A	AF151073	CCDS4523.1, CCDS47376.1, CCDS58995.1	6p23	2013-07-10			ENSG00000145979	ENSG00000145979			21066	protein-coding gene	gene with protein product		612655				11042152, 17646400	Standard	XM_005249163		Approved	dJ257A7.3, FLJ32666	uc003nan.3	Q9P0N9	OTTHUMG00000014272	ENST00000379300.3:c.550G>T	6.37:g.13307947C>A	ENSP00000368602:p.Glu184*					TBC1D7_ENST00000343141.4_Nonsense_Mutation_p.E138*|TBC1D7_ENST00000379307.2_Nonsense_Mutation_p.E157*|TBC1D7_ENST00000356436.4_Nonsense_Mutation_p.E184*|TBC1D7_ENST00000379300.3_Nonsense_Mutation_p.E184*|TBC1D7_ENST00000607532.1_5'UTR	p.E157*			Q9P0N9	TBCD7_HUMAN	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)		5	619	-	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	184			Rab-GAP TBC.		E7EV96|Q2TU37|Q53F44|Q5SZL7|Q86VM8|Q96MB8	Nonsense_Mutation	SNP	ENST00000379300.3	37	c.469G>T	CCDS4523.1	.	.	.	.	.	.	.	.	.	.	C	38	6.858814	0.97889	.	.	ENSG00000145979	ENST00000334971;ENST00000356436;ENST00000379300;ENST00000379307;ENST00000343141;ENST00000452989;ENST00000450347;ENST00000422136;ENST00000446018;ENST00000420456	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-24.7526	19.8676	0.96824	0.0:1.0:0.0:0.0	.	.	.	.	X	125;184;184;157;138;157;157;184;157;157	.	ENSP00000334212:E125X	E	-	1	0	TBC1D7	13415926	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.324000	0.79115	2.941000	0.99782	0.655000	0.94253	GAA		0.423	TBC1D7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039896.2	NM_016495		15	54	1	0	1.15088e-07	0.004007	1.96075e-07	15	54					A	13307947	C	A	13307947	4	1	97	1	0	0	0	0	0	1	0	0	15621	864	30	4	343	4	TBC1D7	6	13307947	Nonsense_Mutation	SNP	C	TCGA-DJ-A2PT-01A-11D-A18F-08		13307947	157807120	7	2115											
TIAM2	26230	broad.mit.edu	37	chr6	155569232	155569232	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctcatcaagccggttcagAgagtgctcaagtacccgctg	10	13	4	1			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr6:155569232A>G	ENST00000461783.3	+	22	5024	c.3751A>G	c.(3751-3753)Aga>Gga	p.R1251G	TIAM2_ENST00000318981.5_Missense_Mutation_p.R1251G|TIAM2_ENST00000528391.2_Missense_Mutation_p.R587G|TIAM2_ENST00000275246.7_Missense_Mutation_p.R176G|TIAM2_ENST00000367174.2_Missense_Mutation_p.R627G|TIAM2_ENST00000456877.2_Missense_Mutation_p.R563G|TIAM2_ENST00000456144.1_Missense_Mutation_p.R1251G|TIAM2_ENST00000360366.4_Missense_Mutation_p.R1275G|TIAM2_ENST00000529824.2_Missense_Mutation_p.R1251G			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1251	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GCCGGTTCAGAGAGTGCTCAA	0.607											OREG0017745	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(3751-3753)Aga>Gga		T-cell lymphoma invasion and metastasis 2							55	50	52					6																	155569232		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155569232A>G		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.3751A>G	6.37:g.155569232A>G	ENSP00000437188:p.Arg1251Gly		OREG0017745	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1771	TIAM2_ENST00000528391.2_Missense_Mutation_p.R587G|TIAM2_ENST00000360366.4_Missense_Mutation_p.R1275G|TIAM2_ENST00000456144.1_Missense_Mutation_p.R1251G|TIAM2_ENST00000275246.7_Missense_Mutation_p.R176G|TIAM2_ENST00000529824.2_Missense_Mutation_p.R1251G|TIAM2_ENST00000318981.5_Missense_Mutation_p.R1251G|TIAM2_ENST00000367174.2_Missense_Mutation_p.R627G|TIAM2_ENST00000456877.2_Missense_Mutation_p.R563G	p.R1251G			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	22	5024	+		Ovarian(120;0.196)	1251			DH.		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.3751A>G	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.147783	0.78001	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246	D;D;D;D;D;D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33	5.64	3.15	0.36227	Guanine-nucleotide dissociation stimulator, CDC24, conserved site (1);Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.94968	0.8372	H	0.98466	4.24	0.53005	D	0.999961	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.95337	0.8435	10	0.87932	D	0	.	12.474	0.55803	0.5972:0.4027:0.0:0.0	.	587;1251;1275;1251	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	G	1251;1497;1251;1251;1251;627;1275;1251;563;587;176	ENSP00000437188:R1251G;ENSP00000434901:R1251G;ENSP00000407746:R1251G;ENSP00000327315:R1251G;ENSP00000356142:R627G;ENSP00000353528:R1275G;ENSP00000433348:R1251G;ENSP00000407183:R563G;ENSP00000435335:R587G;ENSP00000275246:R176G	ENSP00000275246:R176G	R	+	1	2	TIAM2	155610924	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	3.418000	0.52721	0.374000	0.24650	0.533000	0.62120	AGA		0.607	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		3	65	0	0	0	0.004672	0	3	65					G	155569232	A	G	155569232	3	3	97	1	0	0	0	0	1	0	0	0	15888	296	11	3	3817	3	TIAM2	6	155569232	Missense_Mutation	SNP	A	TCGA-DJ-A2PT-01A-11D-A18F-08	142261285	155569232	15545835	8	2116											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		23	54	0	0	0	0.00278	0	23	54					T	140453136	A	T	140453136	3	4	97	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2PT-01A-11D-A18F-08		140453136	18685527	9	2117											
PAOX	196743	broad.mit.edu	37	chr10	135202535	135202535	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actctgtcggatgaagaagtActtctgtgtctcacccaagt	9	10	3	2			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr10:135202535A>G	ENST00000480071.2	+	4	974	c.944A>G	c.(943-945)tAc>tGc	p.Y315C	PAOX_ENST00000357296.3_Silent_p.V399V|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000278060.5_Silent_p.V399V|RP11-108K14.8_ENST00000468317.2_5'Flank|PAOX_ENST00000368539.4_3'UTR	NM_207127.1	NP_997010.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	0					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|positive regulation of spermidine biosynthetic process (GO:1901307)|putrescine biosynthetic process (GO:0009446)|putrescine catabolic process (GO:0009447)|small molecule metabolic process (GO:0044281)|spermidine catabolic process (GO:0046203)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	peroxisomal matrix (GO:0005782)	N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052899)|N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052904)|N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052903)|polyamine oxidase activity (GO:0046592)|receptor binding (GO:0005102)|spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity (GO:0052902)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		ATGAAGAAGTACTTCTGTGTC	0.527																																						ENST00000480071.2																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23						c.(943-945)tAc>tGc		polyamine oxidase (exo-N4-amino)							241	236	237					10																	135202535		2203	4300	6503	SO:0001583	missense	196743				polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity	g.chr10:135202535A>G	BC032778	CCDS7682.1, CCDS7683.1, CCDS7684.1	10q26.3	2003-11-13			ENSG00000148832	ENSG00000148832			20837	protein-coding gene	gene with protein product		615853				12660232	Standard	NM_207127		Approved	PAO	uc001lmv.3	Q6QHF9	OTTHUMG00000019318	ENST00000480071.2:c.944A>G	10.37:g.135202535A>G	ENSP00000435514:p.Tyr315Cys					PAOX_ENST00000278060.5_Silent_p.V399V|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000357296.3_Silent_p.V399V|PAOX_ENST00000368539.4_3'UTR	p.Y315C	NM_207127.1	NP_997010.1	Q6QHF9	PAOX_HUMAN		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)	4	974	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	0					D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3	Missense_Mutation	SNP	ENST00000480071.2	37	c.944A>G	CCDS7684.1	.	.	.	.	.	.	.	.	.	.	N	10.44	1.351423	0.24512	.	.	ENSG00000148832	ENST00000480071	.	.	.	5.54	-0.00206	0.14031	.	.	.	.	.	T	0.42630	0.1211	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27536	-1.0071	7	0.87932	D	0	-29.5902	5.1584	0.15048	0.2473:0.2741:0.4786:0.0	.	315	Q6QHF9-5	.	C	315	.	ENSP00000348654:Y315C	Y	+	2	0	PAOX	135052525	0.801000	0.28930	0.952000	0.39060	0.571000	0.35966	0.069000	0.14552	0.013000	0.14918	-0.177000	0.13119	TAC		0.527	PAOX-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390367.1	NM_152911		7	218	0	0	0	0.001984	0	7	218					G	135202535	A	G	135202535	3	3	97	1	0	0	0	0	1	0	0	0	11423	391	14	3	1215	3	PAOX	10	135202535	Missense_Mutation	SNP	A	TCGA-DJ-A2PT-01A-11D-A18F-08		135202535	332212	10	2118											
B3GAT1	27087	broad.mit.edu	37	chr11	134252734	134252734	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttcgctgcagaatgagcCgcaggttgacggcaaatcca	13	11	0	3			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr11:134252734C>T	ENST00000524765.1	-	4	5332	c.788G>A	c.(787-789)cGg>cAg	p.R263Q	B3GAT1_ENST00000392580.1_Missense_Mutation_p.R263Q|B3GAT1_ENST00000537389.1_Missense_Mutation_p.R276Q|B3GAT1_ENST00000312527.4_Missense_Mutation_p.R263Q|B3GAT1_ENST00000531510.1_5'Flank			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	263					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		CAGAATGAGCCGCAGGTTGAC	0.592																																						ENST00000524765.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(787-789)cGg>cAg		beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)							107	84	92					11																	134252734		2201	4297	6498	SO:0001583	missense	27087				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	g.chr11:134252734C>T	AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"CD molecules", "Beta-1,3-glucuronyltransferases"	921	protein-coding gene	gene with protein product	"galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1", "glucuronosyltransferase P"	151290	"CD57 antigen"	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.788G>A	11.37:g.134252734C>T	ENSP00000433847:p.Arg263Gln					B3GAT1_ENST00000312527.4_Missense_Mutation_p.R263Q|B3GAT1_ENST00000537389.1_Missense_Mutation_p.R276Q|B3GAT1_ENST00000392580.1_Missense_Mutation_p.R263Q	p.R263Q			Q9P2W7	B3GA1_HUMAN		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)	4	5332	-	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)	263					Q96FS7	Missense_Mutation	SNP	ENST00000524765.1	37	c.788G>A	CCDS8500.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.686547	0.47991	.	.	ENSG00000109956	ENST00000392580;ENST00000312527;ENST00000524765;ENST00000537389	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	5.22	4.3	0.51218	.	0.104326	0.64402	D	0.000007	T	0.42899	0.1223	N	0.17379	0.485	0.80722	D	1	B;B	0.15141	0.012;0.005	B;B	0.09377	0.002;0.004	T	0.27839	-1.0062	10	0.10377	T	0.69	-29.4685	13.7671	0.63002	0.0:0.9261:0.0:0.0739	.	276;263	F5H0S0;Q9P2W7	.;B3GA1_HUMAN	Q	263;263;263;276	ENSP00000376359:R263Q;ENSP00000307875:R263Q;ENSP00000433847:R263Q;ENSP00000445983:R276Q	ENSP00000307875:R263Q	R	-	2	0	B3GAT1	133757944	0.149000	0.22717	1.000000	0.80357	0.993000	0.82548	1.290000	0.33319	1.427000	0.47276	0.491000	0.48974	CGG		0.592	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393639.1	NM_018644		12	37	0	0	0	0.013537	0	12	37					T	134252734	C	T	134252734	3	4	97	1	0	0	0	0	1	0	0	0	1253	652	23	1	224	1	B3GAT1	11	134252734	Missense_Mutation	SNP	C	TCGA-DJ-A2PT-01A-11D-A18F-08		134252734	753782	11	2119											
CDCA3	83461	broad.mit.edu	37	chr12	6960070	6960070	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccagatgcttgttgtgcGgcggaggccgcgctggtgtg	19	9	0	1			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr12:6960070G>A	ENST00000538862.2	-	2	948	c.47C>T	c.(46-48)cCg>cTg	p.P16L	USP5_ENST00000229268.8_5'Flank|CDCA3_ENST00000229265.6_Missense_Mutation_p.P16L|CDCA3_ENST00000422785.3_Missense_Mutation_p.P16L|CDCA3_ENST00000540683.1_Missense_Mutation_p.P16L|CDCA3_ENST00000604599.1_5'Flank|USP5_ENST00000389231.5_5'Flank|CDCA3_ENST00000535406.1_Missense_Mutation_p.P16L			Q99618	CDCA3_HUMAN	cell division cycle associated 3	16					mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						CTTGTTGTGCGGCGGAGGCCG	0.662																																						ENST00000422785.3																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						c.(46-48)cCg>cTg		cell division cycle associated 3							35	34	34					12																	6960070		2203	4299	6502	SO:0001583	missense	83461				cell division|mitosis	cytosol		g.chr12:6960070G>A	BG354576	CCDS8565.1, CCDS73428.1	12p13.31	2010-07-20				ENSG00000111665			14624	protein-coding gene	gene with protein product	"trigger of mitotic entry 1"	607749				9074930, 12188893	Standard	XR_242988		Approved	TOME-1, GRCC8	uc001qrg.2	Q99618		ENST00000538862.2:c.47C>T	12.37:g.6960070G>A	ENSP00000442068:p.Pro16Leu					CDCA3_ENST00000535406.1_Missense_Mutation_p.P16L|CDCA3_ENST00000540683.1_Missense_Mutation_p.P16L|CDCA3_ENST00000229265.6_Missense_Mutation_p.P16L|CDCA3_ENST00000538862.2_Missense_Mutation_p.P16L	p.P16L			Q99618	CDCA3_HUMAN			2	151	-			16					A8K5V6|D3DUS6	Missense_Mutation	SNP	ENST00000538862.2	37	c.47C>T	CCDS8565.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.840219	0.32513	.	.	ENSG00000237240;ENSG00000111665;ENSG00000111665;ENSG00000111665;ENSG00000111665	ENST00000422785;ENST00000229265;ENST00000538862;ENST00000535406;ENST00000540683	.	.	.	5.81	3.06	0.35304	.	0.140548	0.46758	N	0.000268	T	0.23492	0.0568	L	0.31752	0.955	0.09310	N	0.999999	B;B	0.25667	0.131;0.016	B;B	0.20384	0.029;0.011	T	0.26395	-1.0104	9	0.06494	T	0.89	-8.5126	7.8515	0.29457	0.3622:0.0:0.6378:0.0	.	16;16	Q99618;F8WDL1	CDCA3_HUMAN;.	L	16	.	ENSP00000229265:P16L	P	-	2	0	U47924.25;CDCA3	6830331	0.672000	0.27530	0.836000	0.33094	0.983000	0.72400	0.262000	0.18460	0.399000	0.25367	-0.137000	0.14449	CCG		0.662	CDCA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401940.2	NM_031299		3	37	0	0	0	0.009096	0	3	37					A	6960070	G	A	6960070	3	1	97	1	0	0	0	0	1	0	0	0	3087	1116	39	1	779	1	CDCA3	12	6960070	Missense_Mutation	SNP	G	TCGA-DJ-A2PT-01A-11D-A18F-08		6960070	126891825	12	2120											
APAF1	317	broad.mit.edu	37	chr12	99042229	99042229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcatggatcacatgattaGtgatggatttttaacaatat	7	5	2	2			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr12:99042229G>A	ENST00000551964.1	+	2	828	c.92G>A	c.(91-93)aGt>aAt	p.S31N	APAF1_ENST00000549007.1_Missense_Mutation_p.S31N|APAF1_ENST00000550527.1_Missense_Mutation_p.S31N|APAF1_ENST00000547045.1_Missense_Mutation_p.S31N|APAF1_ENST00000359972.2_Missense_Mutation_p.S31N|APAF1_ENST00000333991.1_Missense_Mutation_p.S31N|APAF1_ENST00000357310.1_Missense_Mutation_p.S31N|APAF1_ENST00000547743.1_Missense_Mutation_p.S31N|APAF1_ENST00000552268.1_Missense_Mutation_p.S31N|APAF1_ENST00000339433.3_Missense_Mutation_p.S31N	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	31	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	CACATGATTAGTGATGGATTT	0.358																																						ENST00000357310.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42						c.(91-93)aGt>aAt		apoptotic peptidase activating factor 1	Adenosine triphosphate(DB00171)						142	154	150					12																	99042229		2203	4300	6503	SO:0001583	missense	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99042229G>A	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"WD repeat domain containing"	576	protein-coding gene	gene with protein product		602233	"apoptotic protease activating factor", "apoptotic peptidase activating factor"			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.92G>A	12.37:g.99042229G>A	ENSP00000448165:p.Ser31Asn					APAF1_ENST00000552268.1_Missense_Mutation_p.S31N|APAF1_ENST00000547743.1_Missense_Mutation_p.S31N|APAF1_ENST00000550527.1_Missense_Mutation_p.S31N|APAF1_ENST00000549007.1_Missense_Mutation_p.S31N|APAF1_ENST00000551964.1_Missense_Mutation_p.S31N|APAF1_ENST00000547045.1_Missense_Mutation_p.S31N|APAF1_ENST00000333991.1_Missense_Mutation_p.S31N|APAF1_ENST00000359972.2_Missense_Mutation_p.S31N|APAF1_ENST00000339433.3_Missense_Mutation_p.S31N	p.S31N	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN			2	669	+			31			CARD.		B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	37	c.92G>A	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.396539	0.42512	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000333991;ENST00000547743;ENST00000552268;ENST00000550527;ENST00000547045;ENST00000549007	T;T;T;T;T;T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85	5.85	1.86	0.25419	DEATH-like (2);Caspase Recruitment (2);	0.513259	0.23660	N	0.045832	T	0.25382	0.0617	M	0.71581	2.175	0.27009	N	0.96472	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.003;0.001;0.001;0.002;0.0	T	0.17868	-1.0355	10	0.33940	T	0.23	-10.7796	8.8985	0.35479	0.1579:0.3397:0.5023:0.0	.	31;31;31;31;31	O14727-6;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	N	31	ENSP00000448165:S31N;ENSP00000353059:S31N;ENSP00000349862:S31N;ENSP00000341830:S31N;ENSP00000334558:S31N;ENSP00000450175:S31N;ENSP00000448826:S31N;ENSP00000448449:S31N;ENSP00000449791:S31N;ENSP00000448161:S31N	ENSP00000334558:S31N	S	+	2	0	APAF1	97566360	1.000000	0.71417	0.911000	0.35937	0.881000	0.50899	4.020000	0.57189	0.381000	0.24851	0.655000	0.94253	AGT		0.358	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		4	136	0	0	0	0.009096	0	4	136					A	99042229	G	A	99042229	3	1	97	1	0	0	0	0	1	0	0	0	755	1029	36	2	94	2	APAF1	12	99042229	Missense_Mutation	SNP	G	TCGA-DJ-A2PT-01A-11D-A18F-08	92082159	99042229	34809666	13	2121											
C15orf52	388115	broad.mit.edu	37	chr15	40627436	40627436	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcgacctttggctgcctcCtctcgtgggccggcttctcg	11	16	3	0			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr15:40627436C>A	ENST00000559313.1	-	11	1543	c.1528G>T	c.(1528-1530)Gga>Tga	p.G510*	C15orf52_ENST00000397536.2_Nonsense_Mutation_p.G300*	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	510							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		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;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		TGGCTGCCTCCTCTCGTGGGC	0.682																																						ENST00000397536.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19						c.(898-900)Gga>Tga		chromosome 15 open reading frame 52							85	100	95					15																	40627436		2202	4298	6500	SO:0001587	stop_gained	388115							g.chr15:40627436C>A	AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.1528G>T	15.37:g.40627436C>A	ENSP00000453969:p.Gly510*					C15orf52_ENST00000559313.1_Nonsense_Mutation_p.G510*	p.G300*			Q6ZUT6	CO052_HUMAN		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)	7	933	-		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)	510					B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Nonsense_Mutation	SNP	ENST00000559313.1	37	c.898G>T	CCDS10055.2	.	.	.	.	.	.	.	.	.	.	C	14.59	2.580285	0.46006	.	.	ENSG00000188549	ENST00000382688;ENST00000397536	.	.	.	5.16	4.14	0.48551	.	0.442753	0.21115	N	0.079910	.	.	.	.	.	.	0.42346	D	0.99235	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.2117	5.7206	0.17985	0.0:0.8309:0.0:0.1691	.	.	.	.	X	510;300	.	ENSP00000372135:G510X	G	-	1	0	C15orf52	38414728	1.000000	0.71417	0.972000	0.41901	0.014000	0.08584	1.686000	0.37669	2.409000	0.81822	0.462000	0.41574	GGA		0.682	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319567.2	NM_207380		6	175	1	0	3.59834e-05	0.001168	5.91155e-05	6	175					A	40627436	C	A	40627436	4	1	97	1	0	0	0	0	0	1	0	0	1800	690	24	4	80	4	C15orf52	15	40627436	Nonsense_Mutation	SNP	C	TCGA-DJ-A2PT-01A-11D-A18F-08		40627436	61903956	14	2122											
FBN1	2200	broad.mit.edu	37	chr15	48704920	48704920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggtttcctcggcccatgCccattccagaaacacagtgc	9	15	0	1			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr15:48704920C>T	ENST00000316623.5	-	65	8527	c.8072G>A	c.(8071-8073)gGc>gAc	p.G2691D	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2691					extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCGGCCCATGCCCATTCCAGA	0.502																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(8071-8073)gGc>gAc		fibrillin 1							157	151	153					15																	48704920		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48704920C>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.8072G>A	15.37:g.48704920C>T	ENSP00000325527:p.Gly2691Asp					FBN1_ENST00000561429.1_5'UTR	p.G2691D	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	65	8527	-		all_lung(180;0.00279)	2691					B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.8072G>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647484	0.87958	.	.	ENSG00000166147	ENST00000316623	D	0.81821	-1.54	5.38	5.38	0.77491	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.88599	0.6480	M	0.73598	2.24	0.80722	D	1	D	0.69078	0.997	D	0.66196	0.942	D	0.85789	0.1366	10	0.27785	T	0.31	.	18.926	0.92544	0.0:1.0:0.0:0.0	.	2691	P35555	FBN1_HUMAN	D	2691	ENSP00000325527:G2691D	ENSP00000325527:G2691D	G	-	2	0	FBN1	46492212	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.793000	0.96121	0.655000	0.94253	GGC		0.502	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			4	184	0	0	0	0.009096	0	4	184					T	48704920	C	T	48704920	3	4	97	1	0	0	0	0	1	0	0	0	5702	739	26	2	551	2	FBN1	15	48704920	Missense_Mutation	SNP	C	TCGA-DJ-A2PT-01A-11D-A18F-08	8077484	48704920	53826472	15	2123											
TRPM4	54795	broad.mit.edu	37	chr19	49684617	49684617	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttccagcctgtgggagcTcggaggcctcagcctacctg	12	15	1	0			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr19:49684617T>C	ENST00000252826.5	+	10	1288	c.1162T>C	c.(1162-1164)Tcg>Ccg	p.S388P	TRPM4_ENST00000601347.1_Intron|TRPM4_ENST00000355712.5_Intron|TRPM4_ENST00000427978.2_Missense_Mutation_p.S388P	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	388					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CTGTGGGAGCTCGGAGGCCTC	0.557																																						ENST00000252826.5																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.(1162-1164)Tcg>Ccg		transient receptor potential cation channel, subfamily M, member 4							84	72	76					19																	49684617		2203	4300	6503	SO:0001583	missense	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49684617T>C	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"Voltage-gated ion channels / Transient receptor potential cation channels"	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.1162T>C	19.37:g.49684617T>C	ENSP00000252826:p.Ser388Pro					TRPM4_ENST00000601347.1_Intron|TRPM4_ENST00000427978.2_Missense_Mutation_p.S388P|TRPM4_ENST00000355712.5_Intron	p.S388P	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	10	1288	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	388					A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	c.1162T>C	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.176693	0.38413	.	.	ENSG00000130529	ENST00000252826;ENST00000427978	T;T	0.36157	1.27;1.27	3.92	3.92	0.45320	.	0.559181	0.18603	N	0.136394	T	0.52581	0.1743	M	0.73962	2.25	0.80722	D	1	P;D;P	0.57899	0.95;0.981;0.883	P;P;B	0.57101	0.576;0.813;0.368	T	0.55711	-0.8098	10	0.51188	T	0.08	-2.8793	12.0522	0.53513	0.0:0.0:0.0:1.0	.	214;388;388	Q8TD43-2;Q8TD43-3;Q8TD43	.;.;TRPM4_HUMAN	P	388	ENSP00000252826:S388P;ENSP00000407492:S388P	ENSP00000252826:S388P	S	+	1	0	TRPM4	54376429	0.543000	0.26434	0.993000	0.49108	0.034000	0.12701	1.313000	0.33585	1.547000	0.49401	0.374000	0.22700	TCG		0.557	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		3	99	0	0	0	0.004672	0	3	99					C	49684617	T	C	49684617	3	2	97	1	0	0	0	0	1	0	0	0	16585	1551	54	3	1200	3	TRPM4	19	49684617	Missense_Mutation	SNP	T	TCGA-DJ-A2PT-01A-11D-A18F-08		49684617	9444366	16	2124											
TRMT6	51605	broad.mit.edu	37	chr20	5923212	5923212	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcattctcttgttcagaagcCtgtttttcctccagtgtgcc	7	12	3	1			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr20:5923212C>T	ENST00000203001.2	-	7	1018	c.888G>A	c.(886-888)caG>caA	p.Q296Q	TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_Silent_p.Q126Q	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	296					regulation of translational initiation (GO:0006446)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						GTTCAGAAGCCTGTTTTTCCT	0.443																																						ENST00000203001.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						c.(886-888)caG>caA		tRNA methyltransferase 6 homolog (S. cerevisiae)							155	150	152					20																	5923212		2203	4300	6503	SO:0001819	synonymous_variant	51605				regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity	g.chr20:5923212C>T	AK000613	CCDS13093.1, CCDS63225.1	20p12.3	2009-01-12			ENSG00000089195	ENSG00000089195			20900	protein-coding gene	gene with protein product						16043508	Standard	NM_001281467		Approved	GCD10, MGC5029, Gcd10p, CGI-09	uc002wmh.1	Q9UJA5	OTTHUMG00000031816	ENST00000203001.2:c.888G>A	20.37:g.5923212C>T						TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_Silent_p.Q126Q	p.Q296Q	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN			7	1018	-			296					B4DUV6|Q76P92|Q9BQV5|Q9ULR7|Q9Y2Z8	Silent	SNP	ENST00000203001.2	37	c.888G>A	CCDS13093.1																																																																																				0.443	TRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077889.2			15	50	0	0	0	0.003163	0	15	50					T	5923212	C	T	5923212	2	4	97	1	0	0	0	0	0	0	0	1	16565	680	24	2		2	TRMT6	20	5923212	Silent	SNP	C	TCGA-DJ-A2PT-01A-11D-A18F-08		5923212	57102308	17	2125											
CBFA2T2	9139	broad.mit.edu	37	chr20	32199070	32199070	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgaaacgctttcttaccactCtgcaacagtttggcaatgac	7	11	2	2			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr20:32199070C>G	ENST00000346541.3	+	4	913	c.376C>G	c.(376-378)Ctg>Gtg	p.L126V	CBFA2T2_ENST00000397800.1_Missense_Mutation_p.L97V|CBFA2T2_ENST00000397798.2_Missense_Mutation_p.L97V|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.L117V|CBFA2T2_ENST00000344201.3_Missense_Mutation_p.L97V|CBFA2T2_ENST00000492345.1_Missense_Mutation_p.L97V|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.L126V|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.L136V	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	126	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						TCTTACCACTCTGCAACAGTT	0.507																																					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.(376-378)Ctg>Gtg		core-binding factor, runt domain, alpha subunit 2; translocated to, 2							151	134	140					20																	32199070		2203	4300	6503	SO:0001583	missense	9139					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:32199070C>G	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.376C>G	20.37:g.32199070C>G	ENSP00000262653:p.Leu126Val					CBFA2T2_ENST00000344201.3_Missense_Mutation_p.L97V|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.L97V|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.L126V|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.L136V|CBFA2T2_ENST00000342704.5_Missense_Mutation_p.L117V|CBFA2T2_ENST00000397798.2_Missense_Mutation_p.L97V	p.L126V	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN			4	913	+			126			TAFH.		B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Missense_Mutation	SNP	ENST00000346541.3	37	c.376C>G	CCDS13221.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665039	0.67700	.	.	ENSG00000078699	ENST00000375279;ENST00000342704;ENST00000417366;ENST00000344201;ENST00000346541;ENST00000397800;ENST00000397798;ENST00000359606	T;T;T;T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56	5.49	4.55	0.56014	TAFH/NHR1 (3);	0.000000	0.85682	D	0.000000	D	0.82742	0.5103	M	0.80982	2.52	0.80722	D	1	D;D	0.59357	0.985;0.981	D;D	0.79108	0.992;0.987	D	0.83601	0.0128	10	0.56958	D	0.05	-0.4773	10.353	0.43948	0.0:0.8503:0.0:0.1497	.	126;117	O43439;F8W6D7	MTG8R_HUMAN;.	V	126;117;117;97;126;97;97;136	ENSP00000364428:L126V;ENSP00000345810:L117V;ENSP00000408352:L117V;ENSP00000341865:L97V;ENSP00000262653:L126V;ENSP00000380902:L97V;ENSP00000380900:L97V;ENSP00000352622:L136V	ENSP00000345810:L117V	L	+	1	2	CBFA2T2	31662731	1.000000	0.71417	0.941000	0.38009	0.710000	0.40934	4.056000	0.57448	1.317000	0.45149	0.655000	0.94253	CTG		0.507	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	NM_001032999		29	112	0	0	0	0.008361	0	29	112					G	32199070	C	G	32199070	3	3	97	1	0	0	0	0	1	0	0	0	2697	912	32	4	424	4	CBFA2T2	20	32199070	Missense_Mutation	SNP	C	TCGA-DJ-A2PT-01A-11D-A18F-08	26275858	32199070	30826450	18	2126											
GPM6B	2824	broad.mit.edu	37	chrX	13798077	13798077	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaccaaacacacccagccagGccactccaagcacataggtg	7	16	0	0			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chrX:13798077G>C	ENST00000356942.5	-	4	878	c.437C>G	c.(436-438)gCc>gGc	p.A146G	GPM6B_ENST00000316715.4_Missense_Mutation_p.A186G|GPM6B_ENST00000355135.2_Missense_Mutation_p.A186G|GPM6B_ENST00000454189.2_Missense_Mutation_p.A127G|GPM6B_ENST00000398361.3_Missense_Mutation_p.A60G|GPM6B_ENST00000493677.1_Missense_Mutation_p.A160G	NM_005278.3	NP_005269.1	Q13491	GPM6B_HUMAN	glycoprotein M6B	146					cell differentiation (GO:0030154)|extracellular matrix assembly (GO:0085029)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of serotonin uptake (GO:0051612)|nervous system development (GO:0007399)|ossification (GO:0001503)|positive regulation of bone mineralization (GO:0030501)|protein transport (GO:0015031)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of focal adhesion assembly (GO:0051893)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						ACCCAGCCAGGCCACTCCAAG	0.493																																						ENST00000454189.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						c.(379-381)gCc>gGc		glycoprotein M6B							177	142	154					X																	13798077		2203	4300	6503	SO:0001583	missense	2824				cell differentiation|nervous system development	integral to membrane		g.chrX:13798077G>C		CCDS14158.1, CCDS35206.1, CCDS35207.1, CCDS48084.1	Xp22.2	2010-08-03			ENSG00000046653	ENSG00000046653			4461	protein-coding gene	gene with protein product		300051				8661015	Standard	NM_001001995		Approved	M6B, MGC17150, MGC54284	uc004cvw.3	Q13491	OTTHUMG00000021162	ENST00000356942.5:c.437C>G	X.37:g.13798077G>C	ENSP00000349420:p.Ala146Gly					GPM6B_ENST00000398361.3_Missense_Mutation_p.A60G|GPM6B_ENST00000316715.4_Missense_Mutation_p.A186G|GPM6B_ENST00000356942.5_Missense_Mutation_p.A146G|GPM6B_ENST00000493677.1_Missense_Mutation_p.A160G|GPM6B_ENST00000355135.2_Missense_Mutation_p.A186G	p.A127G	NM_001001994.1	NP_001001994.1	Q13491	GPM6B_HUMAN			4	507	-			146					O76077|Q86X43|Q8N956	Missense_Mutation	SNP	ENST00000356942.5	37	c.380C>G	CCDS14158.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.732901	0.69189	.	.	ENSG00000046653	ENST00000316715;ENST00000454189;ENST00000493677;ENST00000355135;ENST00000356942;ENST00000398361;ENST00000495211;ENST00000493085;ENST00000468080	D;D;D;D;D;D;D;D;D	0.99270	-5.66;-5.66;-5.66;-5.66;-5.66;-5.66;-5.66;-5.66;-5.66	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.97813	0.9282	L	0.35414	1.06	0.80722	D	1	B;B;B;B;B;B	0.27380	0.008;0.007;0.017;0.01;0.01;0.177	B;B;B;B;B;B	0.31869	0.034;0.013;0.046;0.014;0.046;0.137	D	0.97112	0.9805	10	0.36615	T	0.2	-6.5713	18.5412	0.91029	0.0:0.0:1.0:0.0	.	160;127;146;186;138;186	B7Z613;Q13491-2;Q13491;Q13491-3;Q59FD5;Q8N956	.;.;GPM6B_HUMAN;.;.;.	G	186;127;160;186;146;60;111;60;60	ENSP00000316861:A186G;ENSP00000389915:A127G;ENSP00000419904:A160G;ENSP00000347258:A186G;ENSP00000349420:A146G;ENSP00000381402:A60G;ENSP00000419409:A111G;ENSP00000418199:A60G;ENSP00000419779:A60G	ENSP00000316861:A186G	A	-	2	0	GPM6B	13707998	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.551000	0.82182	2.408000	0.81797	0.544000	0.68410	GCC		0.493	GPM6B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055822.1	NM_001001995		9	92	0	0	0	0.006214	0	9	92					C	13798077	G	C	13798077	3	2	97	1	0	0	0	0	1	0	0	0	6616	1203	42	4	530	4	GPM6B	23	13798077	Missense_Mutation	SNP	G	TCGA-DJ-A2PT-01A-11D-A18F-08		13798077	141472483	19	2127											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	24	0	0	3			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		3	63	0	0	0	0.004672	0	3	63					A	150156360	G	A	150156360	2	1	97	1	0	0	0	0	0	0	0	1	7227	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-DJ-A2PT-01A-11D-A18F-08	136358283	150156360	5114200	20	2128											
SPTBN1	6711	broad.mit.edu	37	chr2	54856728	54856728	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagcatgccgagtctccagaCgtgaggggcaggctgtcggg	18	10	1	2			TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr2:54856728C>A	ENST00000356805.4	+	14	2738	c.2457C>A	c.(2455-2457)gaC>gaA	p.D819E	SPTBN1_ENST00000333896.5_Missense_Mutation_p.D806E	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	819					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)			AGTCTCCAGACGTGAGGGGCA	0.637																																						ENST00000333896.5																			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.(2416-2418)gaC>gaA		spectrin, beta, non-erythrocytic 1							51	51	51					2																	54856728		2203	4300	6503	SO:0001583	missense	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54856728C>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.2457C>A	2.37:g.54856728C>A	ENSP00000349259:p.Asp819Glu					SPTBN1_ENST00000356805.4_Missense_Mutation_p.D819E	p.D806E	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		13	2803	+			819					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.2418C>A	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	C	8.723	0.914892	0.17907	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.46451	0.87;0.87	5.78	-6.81	0.01704	.	0.291934	0.38272	N	0.001755	T	0.12263	0.0298	N	0.03608	-0.345	0.41484	D	0.988182	B;B	0.02656	0.0;0.0	B;B	0.14578	0.006;0.011	T	0.28170	-1.0052	10	0.08599	T	0.76	.	8.2631	0.31797	0.0:0.4587:0.2221:0.3193	.	806;819	Q01082-3;Q01082	.;SPTB2_HUMAN	E	819;806	ENSP00000349259:D819E;ENSP00000334156:D806E	ENSP00000334156:D806E	D	+	3	2	SPTBN1	54710232	0.049000	0.20398	0.218000	0.23776	0.966000	0.64601	-0.935000	0.03950	-1.268000	0.02439	0.655000	0.94253	GAC		0.637	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			28	45	1	0	2.79863e-10	1	2.99853e-10	28	45					A	54856728	C	A	54856728	3	1	98	1	0	0	0	0	1	0	0	0	15118	535	19	4	2620	4	SPTBN1	2	54856728	Missense_Mutation	SNP	C	TCGA-DJ-A2PU-01A-12D-A19J-08		54856728	188342645	1	2129											
TRIM43	129868	broad.mit.edu	37	chr2	96260870	96260870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagaaatctatatgaggagGgaagaacagccttcctctgg	12	7	2	3	rs201221399		TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr2:96260870G>A	ENST00000272395.2	+	3	620	c.484G>A	c.(484-486)Gga>Aga	p.G162R		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	162						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.G162R(2)		breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						ATATGAGGAGGGAAGAACAGC	0.398																																						ENST00000272395.2																			2	Substitution - Missense(2)	p.G162R(2)	lung(2)	breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						c.(484-486)Gga>Aga		tripartite motif containing 43							71	67	68					2																	96260870		2203	4300	6503	SO:0001583	missense	129868					intracellular	zinc ion binding	g.chr2:96260870G>A	BK000505	CCDS2015.1	2q11	2014-02-17	2011-01-25		ENSG00000144015	ENSG00000144015		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19015	protein-coding gene	gene with protein product			"tripartite motif-containing 43"				Standard	NM_138800		Approved	TRIM43A	uc002suv.3	Q96BQ3	OTTHUMG00000130401	ENST00000272395.2:c.484G>A	2.37:g.96260870G>A	ENSP00000272395:p.Gly162Arg						p.G162R	NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN			3	620	+			162					Q53TJ7	Missense_Mutation	SNP	ENST00000272395.2	37	c.484G>A	CCDS2015.1	.	.	.	.	.	.	.	.	.	.	.	0.011	-1.704919	0.00719	.	.	ENSG00000144015	ENST00000272395	T	0.04603	3.59	0.911	-1.82	0.07857	.	.	.	.	.	T	0.01730	0.0055	N	0.04297	-0.235	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40421	-0.9564	9	0.08381	T	0.77	5.3819	2.9369	0.05817	0.51:0.0:0.285:0.205	.	162	Q96BQ3	TRI43_HUMAN	R	162	ENSP00000272395:G162R	ENSP00000272395:G162R	G	+	1	0	TRIM43	95624597	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.758000	0.01810	-2.941000	0.00297	-2.114000	0.00352	GGA		0.398	TRIM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252784.1	NM_138800		3	41	0	0	0	1	0	3	41					A	96260870	G	A	96260870	3	1	98	1	0	0	0	0	1	0	0	0	16515	1233	43	2	490	2	TRIM43	2	96260870	Missense_Mutation	SNP	G	TCGA-DJ-A2PU-01A-12D-A19J-08	41404142	96260870	146938503	2	2130											
DTYMK	1841	broad.mit.edu	37	chr2	242617953	242617953	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccgttctcatagcgctcatGgccaaacgctccccgcttgg	9	17	2	0			TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr2:242617953G>T	ENST00000305784.2	-	4	649	c.442C>A	c.(442-444)Cat>Aat	p.H148N		NM_001165031.1|NM_012145.3	NP_001158503.1|NP_036277.2	P23919	KTHY_HUMAN	deoxythymidylate kinase (thymidylate kinase)	148					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|cellular response to growth factor stimulus (GO:0071363)|dTDP biosynthetic process (GO:0006233)|dTTP biosynthetic process (GO:0006235)|myoblast differentiation (GO:0045445)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside monophosphate phosphorylation (GO:0046940)|nucleotide phosphorylation (GO:0046939)|response to cadmium ion (GO:0046686)|response to estrogen (GO:0043627)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|nucleoside phosphate kinase activity (GO:0050145)|thymidylate kinase activity (GO:0004798)			NS(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		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;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-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;0.0825)		TAGCGCTCATGGCCAAACGCT	0.577																																						ENST00000305784.2																			0				NS(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(442-444)Cat>Aat		deoxythymidylate kinase (thymidylate kinase)							78	83	81					2																	242617953		2203	4296	6499	SO:0001583	missense	1841				cell cycle|cell proliferation|nucleobase, nucleoside and nucleotide interconversion	cytosol	ATP binding|nucleoside phosphate kinase activity|thymidylate kinase activity	g.chr2:242617953G>T	X54729	CCDS2552.1	2q37	2008-02-05			ENSG00000168393	ENSG00000168393	2.7.4.9		3061	protein-coding gene	gene with protein product	"dTMP kinase", "thymidylate (dTMP) kinase"	188345				2017365, 8024690	Standard	NM_001165031		Approved	CDC8, TYMK, TMPK	uc002wbz.2	P23919	OTTHUMG00000133409	ENST00000305784.2:c.442C>A	2.37:g.242617953G>T	ENSP00000304802:p.His148Asn						p.H148N	NM_001165031.1|NM_012145.3	NP_001158503.1|NP_036277.2	P23919	KTHY_HUMAN		Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-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;0.0825)	4	649	-		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)	148					B7ZW70|Q6FGX1|Q9BUX4	Missense_Mutation	SNP	ENST00000305784.2	37	c.442C>A	CCDS2552.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.848|0.848	-0.739486|-0.739486	0.03088|0.03088	.|.	.|.	ENSG00000168393|ENSG00000168393	ENST00000305784|ENST00000445261	D|.	0.93712|.	-3.27|.	5.05|5.05	0.398|0.398	0.16319|0.16319	.|.	2.235980|.	0.01400|.	N|.	0.013568|.	T|T	0.07279|0.07279	0.0184|0.0184	N|N	0.00879|0.00879	-1.12|-1.12	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.35001|0.35001	-0.9806|-0.9806	10|5	0.17832|.	T|.	0.49|.	0.5628|0.5628	2.0592|2.0592	0.03588|0.03588	0.2377:0.0933:0.4507:0.2183|0.2377:0.0933:0.4507:0.2183	.|.	124;148|.	B7ZW70;P23919|.	.;KTHY_HUMAN|.	N|Q	148|105	ENSP00000304802:H148N|.	ENSP00000304802:H148N|.	H|P	-|-	1|2	0|0	DTYMK|DTYMK	242266626|242266626	0.003000|0.003000	0.15002|0.15002	0.019000|0.019000	0.16419|0.16419	0.006000|0.006000	0.05464|0.05464	0.202000|0.202000	0.17295|0.17295	0.243000|0.243000	0.21327|0.21327	-0.136000|-0.136000	0.14681|0.14681	CAT|CCA		0.577	DTYMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257266.2	NM_012145		33	45	1	0	4.62619e-21	1	5.14021e-21	33	45					T	242617953	G	T	242617953	3	4	98	1	0	0	0	0	1	0	0	0	4798	1348	47	4	204	4	DTYMK	2	242617953	Missense_Mutation	SNP	G	TCGA-DJ-A2PU-01A-12D-A19J-08	146357083	242617953	581420	3	2131											
ENPEP	2028	broad.mit.edu	37	chr4	111434693	111434693	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatctgtttttgatggaatAtcctatagcaaggtgggaga	11	5	1	2			TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr4:111434693A>G	ENST00000265162.5	+	7	1773	c.1431A>G	c.(1429-1431)atA>atG	p.I477M	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	477					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		TTGATGGAATATCCTATAGCA	0.353																																						ENST00000265162.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1429-1431)atA>atG		glutamyl aminopeptidase (aminopeptidase A)	L-Glutamic Acid(DB00142)						167	157	161					4																	111434693		2203	4300	6503	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111434693A>G	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"CD molecules"	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.1431A>G	4.37:g.111434693A>G	ENSP00000265162:p.Ile477Met					RP11-380D23.1_ENST00000503998.1_RNA	p.I477M	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	7	1773	+		Hepatocellular(203;0.217)	477					Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.1431A>G	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	A	16.86	3.240668	0.58995	.	.	ENSG00000138792	ENST00000265162	T	0.03441	3.93	5.29	-0.595	0.11660	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.25344	0.0616	H	0.98256	4.185	0.54753	D	0.999987	D	0.89917	1.0	D	0.97110	1.0	T	0.14643	-1.0465	10	0.87932	D	0	.	9.2904	0.37782	0.3843:0.4856:0.0:0.1301	.	477	Q07075	AMPE_HUMAN	M	477	ENSP00000265162:I477M	ENSP00000265162:I477M	I	+	3	3	ENPEP	111654142	0.972000	0.33761	0.991000	0.47740	0.888000	0.51559	0.215000	0.17562	-0.213000	0.10094	0.528000	0.53228	ATA		0.353	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			45	56	0	0	0	1	0	45	56					G	111434693	A	G	111434693	3	3	98	1	0	0	0	0	1	0	0	0	5128	439	16	3	1457	3	ENPEP	4	111434693	Missense_Mutation	SNP	A	TCGA-DJ-A2PU-01A-12D-A19J-08		111434693	79719583	4	2132											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		35	47	0	0	0	1	0	35	47					T	140453136	A	T	140453136	3	4	98	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2PU-01A-12D-A19J-08		140453136	18685527	5	2133											
RPS6KB2	6199	broad.mit.edu	37	chr11	67201890	67201890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtttgatacccgcttcacaCggcagacgccggtggacagt	12	12	1	2	rs375350949		TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr11:67201890C>T	ENST00000312629.5	+	13	1135	c.1090C>T	c.(1090-1092)Cgg>Tgg	p.R364W	AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	364	AGC-kinase C-terminal.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CCGCTTCACACGGCAGACGCC	0.642													C|||	1	0.000199681	0	0	5008	,	,		18829	0		0	False		,,,				2504	0.001					ENST00000312629.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25						c.(1090-1092)Cgg>Tgg		ribosomal protein S6 kinase, 70kDa, polypeptide 2		C	TRP/ARG	0,4142		0,0,2071	37	42	40		1090	1.2	0.7	11		40	1,8391		0,1,4195	no	missense	RPS6KB2	NM_003952.2	101	0,1,6266	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging	364/483	67201890	1,12533	2071	4196	6267	SO:0001583	missense	6199				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:67201890C>T	AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"ribosomal protein S6 kinase, 70kD, polypeptide 2"			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.1090C>T	11.37:g.67201890C>T	ENSP00000308413:p.Arg364Trp					AP003419.16_ENST00000535922.1_RNA	p.R364W	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		13	1135	+			364			AGC-kinase C-terminal.		B2RMZ9|B4DML8|O94809|Q9UEC1	Missense_Mutation	SNP	ENST00000312629.5	37	c.1090C>T	CCDS41677.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.500606	0.44455	0.0	1.19E-4	ENSG00000175634	ENST00000312629	T	0.58210	0.35	4.5	1.24	0.21308	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.306061	0.23502	N	0.047488	T	0.71324	0.3326	M	0.88842	2.985	0.23464	N	0.997621	D;D	0.89917	1.0;0.999	D;D	0.71414	0.973;0.948	T	0.61530	-0.7044	10	0.72032	D	0.01	.	8.9786	0.35950	0.2834:0.636:0.0:0.0806	.	364;364	Q9BRS0;Q9UBS0	.;KS6B2_HUMAN	W	364	ENSP00000308413:R364W	ENSP00000308413:R364W	R	+	1	2	RPS6KB2	66958466	0.609000	0.26975	0.662000	0.29724	0.419000	0.31324	1.885000	0.39678	0.501000	0.28013	0.313000	0.20887	CGG		0.642	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395508.1	NM_003952		5	51	0	0	0	1	0	5	51					T	67201890	C	T	67201890	3	4	98	1	0	0	0	0	1	0	0	0	13657	527	19	1	1140	1	RPS6KB2	11	67201890	Missense_Mutation	SNP	C	TCGA-DJ-A2PU-01A-12D-A19J-08		67201890	67804626	6	2134											
ADAMTS7	11173	broad.mit.edu	37	chr15	79059040	79059040	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taggacagatcctcgtggaaAttgatgaaattgtagtcgta	11	5	0	3	rs199919711		TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr15:79059040A>G	ENST00000388820.4	-	19	3423	c.3213T>C	c.(3211-3213)aaT>aaC	p.N1071N	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1071					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 chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N1071N(2)|p.N1071S(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CCTCGTGGAAATTGATGAAAT	0.617																																						ENST00000388820.4																			4	Substitution - Missense(2)|Substitution - coding silent(2)	p.N1071N(2)|p.N1071S(2)	lung(2)|kidney(2)	NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(3211-3213)aaT>aaC		ADAM metallopeptidase with thrombospondin type 1 motif, 7																																				SO:0001819	synonymous_variant	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79059040A>G	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.3213T>C	15.37:g.79059040A>G							p.N1071N	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			19	3423	-			1071					Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	c.3213T>C	CCDS32303.1																																																																																				0.617	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		3	44	0	0	0	1	0	3	44					G	79059040	A	G	79059040	2	3	98	1	0	0	0	0	0	0	0	1	271	98	4	3		3	ADAMTS7	15	79059040	Silent	SNP	A	TCGA-DJ-A2PU-01A-12D-A19J-08		79059040	23472352	7	2135											
GLOD4	51031	broad.mit.edu	37	chr17	679033	679033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctgactgaggcagactgcGattctgcaaatagaacttat	9	9	1	4	rs529543488		TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr17:679033G>A	ENST00000301328.5	-	5	456	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	GLOD4_ENST00000301329.6_Missense_Mutation_p.R130C|GLOD4_ENST00000536578.1_Missense_Mutation_p.R121C			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	145						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GGCAGACTGCGATTCTGCAAA	0.483													G|||	1	0.000199681	0	0.0014	5008	,	,		17433	0		0	False		,,,				2504	0					ENST00000301329.6																			0				endometrium(1)|large_intestine(1)|prostate(1)	3						c.(388-390)Cgc>Tgc		glyoxalase domain containing 4							86	84	85					17																	679033		2203	4300	6503	SO:0001583	missense	51031					mitochondrion		g.chr17:679033G>A	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.433C>T	17.37:g.679033G>A	ENSP00000301328:p.Arg145Cys					GLOD4_ENST00000301328.5_Missense_Mutation_p.R145C|GLOD4_ENST00000536578.1_Missense_Mutation_p.R121C	p.R130C	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	4	473	-			145					D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Missense_Mutation	SNP	ENST00000301328.5	37	c.388C>T		.	.	.	.	.	.	.	.	.	.	G	10.46	1.357764	0.24598	.	.	ENSG00000167699	ENST00000301329;ENST00000397393;ENST00000301328;ENST00000536578	T;T;T	0.65916	-0.18;-0.18;-0.18	5.65	-5.23	0.02798	.	1.289890	0.04827	N	0.437987	T	0.47600	0.1454	L	0.49699	1.58	0.09310	N	0.99999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.33777	-0.9855	10	0.41790	T	0.15	1.446	1.0795	0.01640	0.3495:0.0901:0.2416:0.3188	.	121;145;130	B7Z403;Q9HC38;Q9HC38-2	.;GLOD4_HUMAN;.	C	130;333;145;121	ENSP00000301329:R130C;ENSP00000301328:R145C;ENSP00000444315:R121C	ENSP00000301328:R145C	R	-	1	0	GLOD4	625783	0.004000	0.15560	0.001000	0.08648	0.071000	0.16799	0.103000	0.15292	-0.419000	0.07439	-0.808000	0.03180	CGC		0.483	GLOD4-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000437190.1	NM_016080		22	62	0	0	0	1	0	22	62					A	679033	G	A	679033	3	1	98	1	0	0	0	0	1	0	0	0	6450	1058	37	1	532	1	GLOD4	17	679033	Missense_Mutation	SNP	G	TCGA-DJ-A2PU-01A-12D-A19J-08		679033	80516177	8	2136											
UBE2O	63893	broad.mit.edu	37	chr17	74392381	74392381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctacgtcgggcactgcttcCatcttctcctcctctacaat	5	16	4	0			TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr17:74392381C>T	ENST00000319380.7	-	14	2701	c.2637G>A	c.(2635-2637)atG>atA	p.M879I	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	879					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						GCACTGCTTCCATCTTCTCCT	0.562																																						ENST00000319380.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(2635-2637)atG>atA		ubiquitin-conjugating enzyme E2O							167	170	169					17																	74392381		2203	4300	6503	SO:0001583	missense	63893						ATP binding|ubiquitin-protein ligase activity	g.chr17:74392381C>T	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.2637G>A	17.37:g.74392381C>T	ENSP00000323687:p.Met879Ile						p.M879I	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN			14	2701	-			879					A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	ENST00000319380.7	37	c.2637G>A	CCDS32742.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.950186	0.34377	.	.	ENSG00000175931	ENST00000319380	T	0.75367	-0.93	5.03	5.03	0.67393	.	0.096367	0.64402	D	0.000002	T	0.63082	0.2481	N	0.24115	0.695	0.58432	D	0.999996	P	0.47409	0.895	B	0.41236	0.351	T	0.62296	-0.6884	10	0.21014	T	0.42	-36.3148	18.3805	0.90449	0.0:1.0:0.0:0.0	.	879	Q9C0C9	UBE2O_HUMAN	I	879	ENSP00000323687:M879I	ENSP00000323687:M879I	M	-	3	0	UBE2O	71903976	1.000000	0.71417	1.000000	0.80357	0.173000	0.22820	7.570000	0.82390	2.325000	0.78763	0.563000	0.77884	ATG		0.562	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		15	190	0	0	0	1	0	15	190					T	74392381	C	T	74392381	3	4	98	1	0	0	0	0	1	0	0	0	16865	594	21	2	1261	2	UBE2O	17	74392381	Missense_Mutation	SNP	C	TCGA-DJ-A2PU-01A-12D-A19J-08	73713348	74392381	6802829	9	2137											
SMARCA4	6597	broad.mit.edu	37	chr19	11132573	11132573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgctcaacttcctgctgcCcaccatcttcaagagctgca	7	16	3	1			TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr19:11132573C>T	ENST00000429416.3	+	20	3070	c.2789C>T	c.(2788-2790)cCc>cTc	p.P930L	SMARCA4_ENST00000590574.1_Missense_Mutation_p.P930L|SMARCA4_ENST00000541122.2_Missense_Mutation_p.P930L|SMARCA4_ENST00000589677.1_Missense_Mutation_p.P930L|SMARCA4_ENST00000358026.2_Missense_Mutation_p.P930L|SMARCA4_ENST00000413806.3_Missense_Mutation_p.P930L|SMARCA4_ENST00000344626.4_Missense_Mutation_p.P930L|SMARCA4_ENST00000450717.3_Missense_Mutation_p.P930L|SMARCA4_ENST00000444061.3_Missense_Mutation_p.P930L	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	930	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|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 transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TTCCTGCTGCCCACCATCTTC	0.612			"F, N, Mis"		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"F, N, Mis"	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(2788-2790)cCc>cTc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							94	75	81					19																	11132573		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11132573C>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2789C>T	19.37:g.11132573C>T	ENSP00000395654:p.Pro930Leu					SMARCA4_ENST00000590574.1_Missense_Mutation_p.P930L|SMARCA4_ENST00000413806.3_Missense_Mutation_p.P930L|SMARCA4_ENST00000444061.3_Missense_Mutation_p.P930L|SMARCA4_ENST00000541122.2_Missense_Mutation_p.P930L|SMARCA4_ENST00000589677.1_Missense_Mutation_p.P930L|SMARCA4_ENST00000450717.3_Missense_Mutation_p.P930L|SMARCA4_ENST00000344626.4_Missense_Mutation_p.P930L|SMARCA4_ENST00000429416.3_Missense_Mutation_p.P930L	p.P930L	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			19	3073	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	930			Helicase ATP-binding.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.2789C>T	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934913	0.92458	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5;-3.5;-3.5;-3.5	4.51	4.51	0.55191	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.97977	0.9334	H	0.94542	3.55	0.80722	D	1	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	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.99208	1.0875	10	0.87932	D	0	-34.3638	16.1519	0.81629	0.0:1.0:0.0:0.0	.	930;930;930;930;930;150;930;930	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	L	930;930;994;930;930;930;930;930	ENSP00000395654:P930L;ENSP00000350720:P930L;ENSP00000343896:P930L;ENSP00000445036:P930L;ENSP00000392837:P930L;ENSP00000397783:P930L;ENSP00000414727:P930L	ENSP00000343896:P930L	P	+	2	0	SMARCA4	10993573	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.651000	0.83577	2.348000	0.79779	0.655000	0.94253	CCC		0.612	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		3	46	0	0	0	1	0	3	46					T	11132573	C	T	11132573	3	4	98	1	0	0	0	0	1	0	0	0	14770	623	22	2	2859	2	SMARCA4	19	11132573	Missense_Mutation	SNP	C	TCGA-DJ-A2PU-01A-12D-A19J-08		11132573	47996410	10	2138											
ZNF600	162966	broad.mit.edu	37	chr19	53269533	53269533	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaaggtttctctccactAtgaattctagtatgttttgc	7	7	2	1	rs149684999		TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr19:53269533A>G	ENST00000338230.3	-	3	1743	c.1476T>C	c.(1474-1476)caT>caC	p.H492H		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	492					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TCTCTCCACTATGAATTCTAG	0.423																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)	ENST00000338230.3																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(1474-1476)caT>caC		zinc finger protein 600		A		0,4406		0,0,2203	153	150	151		1476	0.3	0.1	19	dbSNP_134	151	2,8594		0,2,4296	no	coding-synonymous	ZNF600	NM_198457.2		0,2,6499	GG,GA,AA		0.0233,0.0,0.0154		492/723	53269533	2,13000	2203	4298	6501	SO:0001819	synonymous_variant	162966				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53269533A>G	U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"Zinc fingers, C2H2-type"	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.1476T>C	19.37:g.53269533A>G							p.H492H	NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)	3	1743	-			492					Q6MZR0	Silent	SNP	ENST00000338230.3	37	c.1476T>C	CCDS12856.1																																																																																				0.423	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	NM_198457		8	184	0	0	0	1	0	8	184					G	53269533	A	G	53269533	2	3	98	1	0	0	0	0	0	0	0	1	18027	446	16	3		3	ZNF600	19	53269533	Silent	SNP	A	TCGA-DJ-A2PU-01A-12D-A19J-08	42136960	53269533	5859450	11	2139											
PLAC1	10761	broad.mit.edu	37	chrX	133700185	133700185	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcccctgcttggtgacaaggGacctgggtatgctcttcttc	12	12	2	1			TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chrX:133700185G>T	ENST00000359237.4	-	3	813	c.528C>A	c.(526-528)gtC>gtA	p.V176V	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1			placenta-specific 1											large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					GGTGACAAGGGACCTGGGTAT	0.488																																						ENST00000359237.4																			0				large_intestine(4)|lung(1)|pancreas(1)	6						c.(526-528)gtC>gtA		placenta-specific 1							153	125	134					X																	133700185		2203	4300	6503	SO:0001819	synonymous_variant	10761				placenta development	extracellular region		g.chrX:133700185G>T	AF234654	CCDS14642.1	Xq26.3	2013-10-14			ENSG00000170965	ENSG00000170965			9044	protein-coding gene	gene with protein product	"cancer/testis antigen 92"	300296				10995572	Standard	NM_021796		Approved	CT92, OOSP2L	uc004exo.1	Q9HBJ0	OTTHUMG00000022457	ENST00000359237.4:c.528C>A	X.37:g.133700185G>T						PLAC1_ENST00000476971.1_5'UTR	p.V176V	NM_021796.3	NP_068568.1	Q9HBJ0	PLAC1_HUMAN			3	813	-	Acute lymphoblastic leukemia(192;0.000127)		176						Silent	SNP	ENST00000359237.4	37	c.528C>A	CCDS14642.1																																																																																				0.488	PLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058375.1	NM_021796		5	95	1	0	5.9392e-07	1	6.144e-07	5	95					T	133700185	G	T	133700185	2	4	98	1	0	0	0	0	0	0	0	1	12012	1161	41	4		4	PLAC1	23	133700185	Silent	SNP	G	TCGA-DJ-A2PU-01A-12D-A19J-08		133700185	21570375	12	2140											
ABCD1	215	broad.mit.edu	37	chrX	153001964	153001964	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagggccccctgaagatcCgaggtaaggctgtcccctcc	13	14	0	2	rs128624221		TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chrX:153001964C>T	ENST00000218104.3	+	4	1789	c.1390C>T	c.(1390-1392)Cga>Tga	p.R464*	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	464					alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTGAAGATCCGAGGTAAGGC	0.657																																						ENST00000218104.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	GRCh37	CM940032	ABCD1	M	rs128624221	c.(1390-1392)Cga>Tga		ATP-binding cassette, sub-family D (ALD), member 1							56	57	57					X																	153001964		2203	4300	6503	SO:0001587	stop_gained	215				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity	g.chrX:153001964C>T	Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"ATP binding cassette transporters / subfamily D"	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.1390C>T	X.37:g.153001964C>T	ENSP00000218104:p.Arg464*					U52111.14_ENST00000434284.1_RNA	p.R464*	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN			4	1789	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		464					Q6GTZ2	Nonsense_Mutation	SNP	ENST00000218104.3	37	c.1390C>T	CCDS14728.1	.	.	.	.	.	.	.	.	.	.	c	13.30	2.195624	0.38806	.	.	ENSG00000101986	ENST00000218104	.	.	.	4.71	2.59	0.31030	.	1.036020	0.07729	N	0.944931	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.1432	10.1308	0.42678	0.6226:0.3774:0.0:0.0	.	.	.	.	X	464	.	ENSP00000218104:R464X	R	+	1	2	ABCD1	152655158	0.071000	0.21146	0.858000	0.33744	0.029000	0.11900	2.308000	0.43690	0.914000	0.36822	-0.260000	0.10688	CGA		0.657	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033		3	20	0	0	0	1	0	3	20					T	153001964	C	T	153001964	4	4	98	1	0	0	0	0	0	1	0	0	60	644	23	1	1404	1	ABCD1	23	153001964	Nonsense_Mutation	SNP	C	TCGA-DJ-A2PU-01A-12D-A19J-08	19301779	153001964	2268596	13	2141											
CYP4A11	1579	broad.mit.edu	37	chr1	47395831	47395831	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agggttagggagcctcctgaGacgcaggtggattccatttt	14	8	0	1	rs58897090	byFrequency	TCGA-DJ-A2PV-01A-11D-A19J-08	TCGA-DJ-A2PV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e34bfc-1871-4943-833f-60894efc3112	40a0e16b-e1e8-4ccc-b56f-73603a392548	g.chr1:47395831G>A	ENST00000310638.4	-	12	1547	c.1516C>T	c.(1516-1518)Ctc>Ttc	p.L506F	CYP4A11_ENST00000371904.4_Missense_Mutation_p.L507F|CYP4A11_ENST00000462347.1_Missense_Mutation_p.L408F	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	506			NGIHLRLRRLPNPCEDKDQL -> MESTCVSGGSLTLVKTR TSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAV PQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS (in CYP4A11V).		arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	AGCCTCCTGAGACGCAGGTGG	0.577																																						ENST00000310638.4																			0				endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36						c.(1516-1518)Ctc>Ttc		cytochrome P450, family 4, subfamily A, polypeptide 11	NADH(DB00157)						89	75	80					1																	47395831		2203	4298	6501	SO:0001583	missense	1579				long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47395831G>A	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"Cytochrome P450s"	2642	protein-coding gene	gene with protein product		601310	"cytochrome P450, subfamily IVA, polypeptide 11"	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.1516C>T	1.37:g.47395831G>A	ENSP00000311095:p.Leu506Phe					CYP4A11_ENST00000371904.4_Missense_Mutation_p.L507F|CYP4A11_ENST00000475477.1_5'UTR	p.L506F	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN			12	1547	-			506		NGIHLRLRRLPNPCEDKDQL -> MESTCVSGGSLTLVKTR TSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAV PQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS (in CYP4A11V).			Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	c.1516C>T	CCDS543.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614624	0.46631	.	.	ENSG00000187048	ENST00000310638;ENST00000371904	T;T	0.69306	-0.39;-0.39	4.71	4.71	0.59529	.	0.139546	0.47093	D	0.000249	T	0.70081	0.3183	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.74272	-0.3719	10	0.87932	D	0	.	13.4352	0.61079	0.0794:0.0:0.9206:0.0	rs58897090	506	Q02928	CP4AB_HUMAN	F	506;507	ENSP00000311095:L506F;ENSP00000360971:L507F	ENSP00000311095:L506F	L	-	1	0	CYP4A11	47168418	0.015000	0.18098	0.719000	0.30619	0.232000	0.25224	0.018000	0.13422	2.330000	0.79161	0.645000	0.84053	CTC		0.577	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		3	39	0	0	0	0.004672	0	3	39					A	47395831	G	A	47395831	3	1	99	1	0	0	0	0	1	0	0	0	4183	942	33	2	47	2	CYP4A11	1	47395831	Missense_Mutation	SNP	G	TCGA-DJ-A2PV-01A-11D-A19J-08		47395831	201854790	1	2142											
HEATR1	55127	broad.mit.edu	37	chr1	236719122	236719122	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctcagagtgctgggctcGgaagtccagggcttccagga	14	11	1	1			TCGA-DJ-A2PV-01A-11D-A19J-08	TCGA-DJ-A2PV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e34bfc-1871-4943-833f-60894efc3112	40a0e16b-e1e8-4ccc-b56f-73603a392548	g.chr1:236719122G>A	ENST00000366582.3	-	39	5746	c.5632C>T	c.(5632-5634)Cga>Tga	p.R1878*	HEATR1_ENST00000366581.2_Nonsense_Mutation_p.R1797*	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1878					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGCTGGGCTCGGAAGTCCAGG	0.493																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(5632-5634)Cga>Tga		HEAT repeat containing 1							119	114	116					1																	236719122		2203	4300	6503	SO:0001587	stop_gained	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236719122G>A	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.5632C>T	1.37:g.236719122G>A	ENSP00000355541:p.Arg1878*					HEATR1_ENST00000366581.2_Nonsense_Mutation_p.R1797*	p.R1878*	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		39	5746	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	1878					Q5T3Q8|Q6P197|Q9NW23	Nonsense_Mutation	SNP	ENST00000366582.3	37	c.5632C>T	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	G	45	11.525005	0.99572	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	.	.	.	4.93	3.96	0.45880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6304	0.56655	0.0:0.0:0.6405:0.3594	.	.	.	.	X	1878;1797	.	ENSP00000355540:R1797X	R	-	1	2	HEATR1	234785745	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	1.865000	0.39479	1.223000	0.43536	0.455000	0.32223	CGA		0.493	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		40	86	0	0	0	0.09836	0	40	86					A	236719122	G	A	236719122	4	1	99	1	0	0	0	0	0	1	0	0	7027	1124	39	1	830	1	HEATR1	1	236719122	Nonsense_Mutation	SNP	G	TCGA-DJ-A2PV-01A-11D-A19J-08	189323291	236719122	12531499	2	2143											
APOB	338	broad.mit.edu	37	chr2	21236165	21236165	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgtacaagttgctgtagacAttcgtggagaggtctagaac	12	6	1	3			TCGA-DJ-A2PV-01A-11D-A19J-08	TCGA-DJ-A2PV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e34bfc-1871-4943-833f-60894efc3112	40a0e16b-e1e8-4ccc-b56f-73603a392548	g.chr2:21236165A>T	ENST00000233242.1	-	25	4210	c.4083T>A	c.(4081-4083)aaT>aaA	p.N1361K		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1361					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.N1361N(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTGTAGACATTCGTGGAGA	0.512																																						ENST00000233242.1																			1	Substitution - coding silent(1)	p.N1361N(1)	lung(1)	NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(4081-4083)aaT>aaA		apolipoprotein B	Atorvastatin(DB01076)						208	189	195					2																	21236165		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21236165A>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.4083T>A	2.37:g.21236165A>T	ENSP00000233242:p.Asn1361Lys						p.N1361K	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			25	4210	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1361					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.4083T>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	A	8.219	0.802122	0.16397	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00659	5.94	5.17	2.27	0.28462	.	0.266347	0.32244	N	0.006366	T	0.00815	0.0027	L	0.46741	1.465	0.37010	D	0.895683	B	0.28605	0.217	B	0.24701	0.055	T	0.60419	-0.7267	10	0.19147	T	0.46	.	8.1285	0.31014	0.676:0.0:0.324:0.0	.	1361	P04114	APOB_HUMAN	K	1361	ENSP00000233242:N1361K	ENSP00000233242:N1361K	N	-	3	2	APOB	21089670	0.103000	0.21917	0.488000	0.27440	0.317000	0.28152	0.678000	0.25277	0.786000	0.33708	0.455000	0.32223	AAT		0.512	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			46	102	0	0	0	0.048971	0	46	102					T	21236165	A	T	21236165	3	4	99	1	0	0	0	0	1	0	0	0	785	214	8	5	9628	5	APOB	2	21236165	Missense_Mutation	SNP	A	TCGA-DJ-A2PV-01A-11D-A19J-08		21236165	221963208	3	2144											
PARP8	79668	broad.mit.edu	37	chr5	50091188	50091188	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aacgcagagggcaggaggctCtctcttacctcagggcttat	12	11	3	1			TCGA-DJ-A2PV-01A-11D-A19J-08	TCGA-DJ-A2PV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e34bfc-1871-4943-833f-60894efc3112	40a0e16b-e1e8-4ccc-b56f-73603a392548	g.chr5:50091188C>G	ENST00000281631.5	+	12	1523	c.1365C>G	c.(1363-1365)ctC>ctG	p.L455L	PARP8_ENST00000505554.1_Silent_p.L434L|PARP8_ENST00000503750.2_Silent_p.L455L|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514342.2_Silent_p.L208L|PARP8_ENST00000505697.2_Silent_p.L455L|PARP8_ENST00000514067.2_Silent_p.L455L	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	455						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GCAGGAGGCTCTCTCTTACCT	0.433																																						ENST00000281631.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1363-1365)ctC>ctG		poly (ADP-ribose) polymerase family, member 8							77	80	79					5																	50091188		2203	4300	6503	SO:0001819	synonymous_variant	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50091188C>G	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"Poly (ADP-ribose) polymerases"	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1365C>G	5.37:g.50091188C>G						PARP8_ENST00000514342.2_Silent_p.L208L|PARP8_ENST00000503750.2_Silent_p.L455L|PARP8_ENST00000514067.2_Silent_p.L455L|PARP8_ENST00000505554.1_Silent_p.L434L|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505697.2_Silent_p.L455L	p.L455L	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN			12	1523	+		Lung NSC(810;0.0305)|Breast(144;0.222)	455					Q3KRB7|Q6DHZ1|Q9H754	Silent	SNP	ENST00000281631.5	37	c.1365C>G	CCDS3954.1																																																																																				0.433	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		4	60	0	0	0	0.009096	0	4	60					G	50091188	C	G	50091188	2	3	99	1	0	0	0	0	0	0	0	1	11465	900	32	4		4	PARP8	5	50091188	Silent	SNP	C	TCGA-DJ-A2PV-01A-11D-A19J-08		50091188	130824072	4	2145											
RIOK1	83732	broad.mit.edu	37	chr6	7404673	7404673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaccactcttgaaaaatGtccagttatcagaatccaag	6	11	2	2			TCGA-DJ-A2PV-01A-11D-A19J-08	TCGA-DJ-A2PV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e34bfc-1871-4943-833f-60894efc3112	40a0e16b-e1e8-4ccc-b56f-73603a392548	g.chr6:7404673G>A	ENST00000379834.2	+	10	1384	c.877G>A	c.(877-879)Gtc>Atc	p.V293I		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	293	Protein kinase.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					CTTGAAAAATGTCCAGTTATC	0.418																																						ENST00000379834.2																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(877-879)Gtc>Atc		RIO kinase 1							136	132	133					6																	7404673		2203	4300	6503	SO:0001583	missense	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7404673G>A	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"RIO kinase 1 (yeast)"				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.877G>A	6.37:g.7404673G>A	ENSP00000369162:p.Val293Ile						p.V293I	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN			10	1384	+	Ovarian(93;0.0418)		293			Protein kinase.		B2RB28|Q8NDC8|Q96NV9	Missense_Mutation	SNP	ENST00000379834.2	37	c.877G>A	CCDS4500.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.770689	0.31320	.	.	ENSG00000124784	ENST00000379834	T	0.07688	3.17	5.3	2.39	0.29439	RIO kinase (1);Protein kinase-like domain (1);RIO-like kinase (1);	0.210364	0.48767	N	0.000166	T	0.03915	0.0110	M	0.69248	2.105	0.30336	N	0.786182	B	0.15719	0.014	B	0.20577	0.03	T	0.26883	-1.0090	10	0.48119	T	0.1	-10.4887	9.5789	0.39475	0.2432:0.0:0.7568:0.0	.	293	Q9BRS2	RIOK1_HUMAN	I	293	ENSP00000369162:V293I	ENSP00000369162:V293I	V	+	1	0	RIOK1	7349672	0.997000	0.39634	0.359000	0.25824	0.476000	0.33039	3.782000	0.55401	0.247000	0.21414	-0.812000	0.03155	GTC		0.418	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	NM_031480		11	104	0	0	0	0.069234	0	11	104					A	7404673	G	A	7404673	3	1	99	1	0	0	0	0	1	0	0	0	13377	1377	48	2	915	2	RIOK1	6	7404673	Missense_Mutation	SNP	G	TCGA-DJ-A2PV-01A-11D-A19J-08		7404673	163710394	5	2146											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A2PV-01A-11D-A19J-08	TCGA-DJ-A2PV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e34bfc-1871-4943-833f-60894efc3112	40a0e16b-e1e8-4ccc-b56f-73603a392548	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		22	47	0	0	0	0.055883	0	22	47					T	140453136	A	T	140453136	3	4	99	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2PV-01A-11D-A19J-08		140453136	18685527	6	2147											
CD163	9332	broad.mit.edu	37	chr12	7640177	7640177	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcttctatgtcccagtgagAgttacagagggatccccagg	11	10	2	2			TCGA-DJ-A2PV-01A-11D-A19J-08	TCGA-DJ-A2PV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e34bfc-1871-4943-833f-60894efc3112	40a0e16b-e1e8-4ccc-b56f-73603a392548	g.chr12:7640177A>G	ENST00000359156.4	-	8	2030	c.1828T>C	c.(1828-1830)Tct>Cct	p.S610P	CD163_ENST00000432237.2_Missense_Mutation_p.S610P|CD163_ENST00000541972.1_Missense_Mutation_p.S598P|CD163_ENST00000396620.3_Missense_Mutation_p.S643P|CD163_ENST00000539632.1_5'Flank	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	610	SRCR 6. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	TCCCAGTGAGAGTTACAGAGG	0.517																																						ENST00000359156.4																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(1828-1830)Tct>Cct		CD163 molecule							107	101	103					12																	7640177		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7640177A>G	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1828T>C	12.37:g.7640177A>G	ENSP00000352071:p.Ser610Pro					CD163_ENST00000396620.3_Missense_Mutation_p.S643P|CD163_ENST00000541972.1_Missense_Mutation_p.S598P|CD163_ENST00000432237.2_Missense_Mutation_p.S610P	p.S610P	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			8	2030	-			610			SRCR 6.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.1828T>C	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	A	17.95	3.514364	0.64522	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.21	3.99	0.46301	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.077004	0.56097	D	0.000032	T	0.52725	0.1752	M	0.78049	2.395	0.31147	N	0.705914	D;D;D	0.89917	1.0;0.986;1.0	D;P;D	0.79784	0.993;0.656;0.989	T	0.59289	-0.7482	10	0.62326	D	0.03	.	10.1968	0.43060	0.8332:0.1668:0.0:0.0	.	643;610;610	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	P	610;598;643;610	ENSP00000352071:S610P;ENSP00000444071:S598P;ENSP00000379863:S643P;ENSP00000403885:S610P	ENSP00000352071:S610P	S	-	1	0	CD163	7531444	0.000000	0.05858	0.998000	0.56505	0.981000	0.71138	0.224000	0.17738	2.094000	0.63399	0.533000	0.62120	TCT		0.517	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		9	91	0	0	0	0.047766	0	9	91					G	7640177	A	G	7640177	3	3	99	1	0	0	0	0	1	0	0	0	2967	304	11	3	1678	3	CD163	12	7640177	Missense_Mutation	SNP	A	TCGA-DJ-A2PV-01A-11D-A19J-08		7640177	126211718	7	2148											
GATC	8683	broad.mit.edu	37	chr12	120897756	120897756	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacaagagccattcccacaCagctgagtagctcattctgg	9	12	2	2			TCGA-DJ-A2PV-01A-11D-A19J-08	TCGA-DJ-A2PV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e34bfc-1871-4943-833f-60894efc3112	40a0e16b-e1e8-4ccc-b56f-73603a392548	g.chr12:120897756C>T	ENST00000229390.3	-	0	1201				AL021546.6_ENST00000551806.1_Nonsense_Mutation_p.Q167*|GATC_ENST00000551765.1_Silent_p.H135H	NM_003769.2	NP_003760.1	Q13242	SRSF9_HUMAN	serine/arginine-rich splicing factor 9						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.H135Q(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	9						CATTCCCACACAGCTGAGTAG	0.353																																						ENST00000551806.1																			1	Substitution - Missense(1)	p.H135Q(1)	breast(1)								c.(499-501)Cag>Tag									91	86	88					12																	120897756		2203	4300	6503	SO:0001628	intergenic_variant	0							g.chr12:120897756C>T	U30825	CCDS9199.1	12q24.31	2013-02-12	2010-06-22	2010-06-22	ENSG00000111786	ENSG00000111786		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10791	protein-coding gene	gene with protein product	"SR splicing factor 9"	601943	"splicing factor, arginine/serine-rich 9"	SFRS9		7556075, 20516191	Standard	NM_003769		Approved	SRp30c	uc001tyi.3	Q13242	OTTHUMG00000047790		12.37:g.120897756C>T						GATC_ENST00000551765.1_Silent_p.H135H	p.Q167*							5	499	+								Q52LD1	Nonsense_Mutation	SNP	ENST00000229390.3	37	c.499C>T	CCDS9199.1	.	.	.	.	.	.	.	.	.	.	C	9.283	1.048625	0.19827	.	.	ENSG00000111780	ENST00000551806	.	.	.	5.11	-6.63	0.01807	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	5.2726	2.8876	0.05665	0.1134:0.1562:0.2239:0.5065	.	.	.	.	X	167	.	.	Q	+	1	0	GATC	119382139	0.000000	0.05858	0.000000	0.03702	0.626000	0.37791	-2.236000	0.01201	-1.098000	0.03038	0.655000	0.94253	CAG		0.353	SRSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108983.2	NM_003769		9	33	0	0	0	0.058154	0	9	33					T	120897756	C	T	120897756	1	4	99	0	1	0	0	0	0	0	0	0	6262	477	17	2		2	GATC	12	120897756	IGR	SNP	C	TCGA-DJ-A2PV-01A-11D-A19J-08	113257579	120897756	12954139	8	2149											
ANP32A	8125	broad.mit.edu	37	chr15	69072764	69072764	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cataccaccaagctcttcttCatcttcctcgtcatctacct	2	17	6	0			TCGA-DJ-A2PV-01A-11D-A19J-08	TCGA-DJ-A2PV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e34bfc-1871-4943-833f-60894efc3112	40a0e16b-e1e8-4ccc-b56f-73603a392548	g.chr15:69072764C>T	ENST00000465139.2	-	6	816	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	ANP32A_ENST00000483551.2_5'UTR|ANP32A_ENST00000560303.1_3'UTR	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member A	225	Asp/Glu-rich (highly acidic).|Interaction with E4F1. {ECO:0000250}.				gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|nucleocytoplasmic transport (GO:0006913)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)	4						AGCTCTTCTTCATCTTCCTCG	0.498																																						ENST00000465139.2																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(673-675)Gaa>Aaa		acidic (leucine-rich) nuclear phosphoprotein 32 family, member A							133	135	134					15																	69072764		2200	4298	6498	SO:0001583	missense	8125				intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding	g.chr15:69072764C>T	AF025684	CCDS45292.1	15q23	2008-05-14			ENSG00000140350	ENSG00000140350		"ANP32 acidic nuclear phosphoproteins"	13233	protein-coding gene	gene with protein product		600832		C15orf1		8970164, 9144194	Standard	NM_006305		Approved	LANP, PP32, I1PP2A, PHAPI, MAPM, mapmodulin	uc002arl.3	P39687	OTTHUMG00000154502	ENST00000465139.2:c.673G>A	15.37:g.69072764C>T	ENSP00000417864:p.Glu225Lys					ANP32A_ENST00000483551.2_5'UTR|ANP32A_ENST00000560303.1_3'UTR	p.E225K	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN			6	816	-			225			Asp/Glu-rich (highly acidic).|Interaction with E4F1 (By similarity).		B2R6T4|Q53FK4|Q5J8L8|Q7M4N6	Missense_Mutation	SNP	ENST00000465139.2	37	c.673G>A	CCDS45292.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.4|22.4	4.285280|4.285280	0.80803|0.80803	.|.	.|.	ENSG00000140350|ENSG00000140350	ENST00000358235|ENST00000465139	.|T	.|0.36340	.|1.26	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	.|0.172360	.|0.52532	.|D	.|0.000064	.|T	.|0.40886	.|0.1135	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	.|P	.|0.40970	.|0.734	.|B	.|0.34652	.|0.187	.|T	.|0.49123	.|-0.8972	.|10	.|0.52906	.|T	.|0.07	.|.	16.5477|16.5477	0.84451|0.84451	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|225	.|P39687	.|AN32A_HUMAN	.|K	-1|225	.|ENSP00000417864:E225K	.|ENSP00000417864:E225K	.|E	-|-	.|1	.|0	ANP32A|ANP32A	66859818|66859818	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.983000|0.983000	0.72400|0.72400	5.887000|5.887000	0.69751|0.69751	2.518000|2.518000	0.84900|0.84900	0.555000|0.555000	0.69702|0.69702	.|GAA		0.498	ANP32A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335525.2			6	41	0	0	0	0.02938	0	6	41					T	69072764	C	T	69072764	3	4	99	1	0	0	0	0	1	0	0	0	705	835	29	2	84	2	ANP32A	15	69072764	Missense_Mutation	SNP	C	TCGA-DJ-A2PV-01A-11D-A19J-08		69072764	33458628	9	2150											
RALGAPA2	57186	broad.mit.edu	37	chr20	20582429	20582429	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcggtcacatctgggtggctCcgccagctgagagaaaagga	14	10	2	2			TCGA-DJ-A2PV-01A-11D-A19J-08	TCGA-DJ-A2PV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e34bfc-1871-4943-833f-60894efc3112	40a0e16b-e1e8-4ccc-b56f-73603a392548	g.chr20:20582429C>T	ENST00000202677.7	-	16	2107	c.2100G>A	c.(2098-2100)cgG>cgA	p.R700R	RALGAPA2_ENST00000495793.1_5'UTR	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	700					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CTGGGTGGCTCCGCCAGCTGA	0.488																																						ENST00000202677.6																			0				endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						c.(2098-2100)cgG>cgA		Ral GTPase activating protein, alpha subunit 2 (catalytic)							44	44	44					20																	20582429		1890	4120	6010	SO:0001819	synonymous_variant	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20582429C>T	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 74"	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.2100G>A	20.37:g.20582429C>T						RALGAPA2_ENST00000495793.1_5'UTR	p.R700R	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN			16	2242	-			700					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Silent	SNP	ENST00000202677.7	37	c.2100G>A	CCDS46584.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.466631	0.26335	.	.	ENSG00000188559	ENST00000430436	.	.	.	4.99	0.0748	0.14396	.	.	.	.	.	T	0.40498	0.1119	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25398	-1.0133	4	.	.	.	.	1.1683	0.01820	0.1685:0.394:0.1673:0.2703	.	.	.	.	E	517	.	.	G	-	2	0	RALGAPA2	20530429	0.985000	0.35326	1.000000	0.80357	0.990000	0.78478	0.199000	0.17237	0.212000	0.20703	0.655000	0.94253	GGA		0.488	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		4	26	0	0	0	0.014758	0	4	26					T	20582429	C	T	20582429	2	4	99	1	0	0	0	0	0	0	0	1	13014	842	30	2		2	RALGAPA2	20	20582429	Silent	SNP	C	TCGA-DJ-A2PV-01A-11D-A19J-08		20582429	42443091	10	2151											
FHL3	2275	broad.mit.edu	37	chr1	38465013	38465013	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggcacacagtaggggccGctgtctgtctggatgtactt	14	10	2	0			TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr1:38465013G>A	ENST00000373016.3	-	2	240	c.72C>T	c.(70-72)agC>agT	p.S24S	FHL3_ENST00000485803.1_Intron	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	24					actin cytoskeleton organization (GO:0030036)|muscle organ development (GO:0007517)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)|Z disc (GO:0030018)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGTAGGGGCCGCTGTCTGTCT	0.547																																						ENST00000373016.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5						c.(70-72)agC>agT		four and a half LIM domains 3							110	97	102					1																	38465013		2203	4300	6503	SO:0001819	synonymous_variant	2275				muscle organ development		zinc ion binding	g.chr1:38465013G>A	BC011697	CCDS30678.1	1p34.3	2008-02-05			ENSG00000183386	ENSG00000183386			3704	protein-coding gene	gene with protein product		602790				8753811, 10226657	Standard	NM_004468		Approved	SLIM2	uc001cck.3	Q13643	OTTHUMG00000004434	ENST00000373016.3:c.72C>T	1.37:g.38465013G>A						FHL3_ENST00000485803.1_Intron	p.S24S	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN			2	240	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	24					D3DPT6|Q6I9T0|Q9BVA2	Silent	SNP	ENST00000373016.3	37	c.72C>T	CCDS30678.1																																																																																				0.547	FHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012958.1	NM_004468		7	49	0	0	0	0.02938	0	7	49					A	38465013	G	A	38465013	2	1	100	1	0	0	0	0	0	0	0	1	5880	1078	38	1		1	FHL3	1	38465013	Silent	SNP	G	TCGA-DJ-A2PW-01A-11D-A19J-08		38465013	210785608	1	2152											
LRRN1	57633	broad.mit.edu	37	chr3	3887996	3887996	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtcaaacttaaaatggtcGtctgccaccatgaagattga	8	9	2	3			TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr3:3887996G>A	ENST00000319331.3	+	2	2432	c.1671G>A	c.(1669-1671)tcG>tcA	p.S557S	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	557	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TAAAATGGTCGTCTGCCACCA	0.443																																						ENST00000319331.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26						c.(1669-1671)tcG>tcA		leucine rich repeat neuronal 1							202	205	204					3																	3887996		2203	4300	6503	SO:0001819	synonymous_variant	57633					integral to membrane		g.chr3:3887996G>A	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"Immunoglobulin superfamily / I-set domain containing"	20980	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 3"					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.1671G>A	3.37:g.3887996G>A						SUMF1_ENST00000534863.1_Intron	p.S557S	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	2432	+			557			Fibronectin type-III.		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Silent	SNP	ENST00000319331.3	37	c.1671G>A	CCDS33685.1																																																																																				0.443	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		32	163	0	0	0	0.064281	0	32	163					A	3887996	G	A	3887996	2	1	100	1	0	0	0	0	0	0	0	1	9034	1132	40	1		1	LRRN1	3	3887996	Silent	SNP	G	TCGA-DJ-A2PW-01A-11D-A19J-08		3887996	194134434	2	2153											
ZNF621	285268	broad.mit.edu	37	chr3	40573621	40573621	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtaggaggacttctcaggaaCgtttctcagcactttgattt	10	8	2	1	rs189638815		TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr3:40573621C>G	ENST00000339296.5	+	5	812	c.360C>G	c.(358-360)aaC>aaG	p.N120K	ZNF621_ENST00000310898.1_Missense_Mutation_p.N120K|ZNF621_ENST00000431278.1_Missense_Mutation_p.N9K|ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000403205.2_Missense_Mutation_p.N120K	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	120					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		TTCTCAGGAACGTTTCTCAGC	0.413																																						ENST00000339296.5																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(358-360)aaC>aaG		zinc finger protein 621							82	87	85					3																	40573621		2203	4300	6503	SO:0001583	missense	285268				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:40573621C>G	AK127181	CCDS2693.1, CCDS74920.1	3p21.33	2013-01-08			ENSG00000172888	ENSG00000172888		"Zinc fingers, C2H2-type", "-"	24787	protein-coding gene	gene with protein product							Standard	XM_005265079		Approved	FLJ45246	uc003ckm.2	Q6ZSS3	OTTHUMG00000131389	ENST00000339296.5:c.360C>G	3.37:g.40573621C>G	ENSP00000340841:p.Asn120Lys					ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000431278.1_Missense_Mutation_p.N9K|ZNF621_ENST00000403205.2_Missense_Mutation_p.N120K|ZNF621_ENST00000310898.1_Missense_Mutation_p.N120K	p.N120K	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)	5	812	+			120					Q14DC7|Q8TE91	Missense_Mutation	SNP	ENST00000339296.5	37	c.360C>G	CCDS2693.1	.	.	.	.	.	.	.	.	.	.	c	12.11	1.840609	0.32513	.	.	ENSG00000172888	ENST00000403205;ENST00000310898;ENST00000339296;ENST00000431278;ENST00000453351	T;T;T;T;T	0.07567	3.36;5.44;3.36;3.18;5.47	3.73	-5.9	0.02275	.	0.996321	0.08128	N	0.993716	T	0.05731	0.0150	L	0.40543	1.245	0.09310	N	1	P;B;B	0.49447	0.924;0.319;0.319	B;B;B	0.35312	0.2;0.062;0.062	T	0.17592	-1.0364	10	0.18710	T	0.47	.	13.8617	0.63564	0.0:0.1742:0.0:0.8258	.	120;9;120	C9JM43;C9JZC2;Q6ZSS3	.;.;ZN621_HUMAN	K	120;120;120;9;120	ENSP00000386051:N120K;ENSP00000312144:N120K;ENSP00000340841:N120K;ENSP00000413236:N9K;ENSP00000408779:N120K	ENSP00000312144:N120K	N	+	3	2	ZNF621	40548625	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-3.314000	0.00516	-1.606000	0.01591	-0.880000	0.02959	AAC		0.413	ZNF621-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254178.2	NM_198484		9	74	0	0	0	0.058154	0	9	74					G	40573621	C	G	40573621	3	3	100	1	0	0	0	0	1	0	0	0	18042	535	19	4	374	4	ZNF621	3	40573621	Missense_Mutation	SNP	C	TCGA-DJ-A2PW-01A-11D-A19J-08	36685625	40573621	157448809	3	2154											
PPAT	5471	broad.mit.edu	37	chr4	57301543	57301543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagccccacgagtcccagaGtgatcacatgcggtacatcc	10	15	1	2			TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr4:57301543G>A	ENST00000264220.2	-	1	238	c.101C>T	c.(100-102)aCt>aTt	p.T34I	PAICS_ENST00000514888.1_5'Flank|PAICS_ENST00000264221.2_5'Flank|PAICS_ENST00000399688.3_5'Flank|PAICS_ENST00000512576.1_5'Flank	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	34	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				'de novo' IMP biosynthetic process (GO:0006189)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|G1/S transition of mitotic cell cycle (GO:0000082)|glutamine catabolic process (GO:0006543)|kidney development (GO:0001822)|lactation (GO:0007595)|maternal process involved in female pregnancy (GO:0060135)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|protein homotetramerization (GO:0051289)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|amidophosphoribosyltransferase activity (GO:0004044)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				Fluorouracil(DB00544)|L-Glutamine(DB00130)|Mercaptopurine(DB01033)	GAGTCCCAGAGTGATCACATG	0.652																																						ENST00000264220.2																			0				cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(100-102)aCt>aTt		phosphoribosyl pyrophosphate amidotransferase	L-Glutamine(DB00130)|Thioguanine(DB00352)						77	75	76					4																	57301543		2203	4300	6503	SO:0001583	missense	5471				glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding	g.chr4:57301543G>A		CCDS3505.1	4q12	2012-10-02			ENSG00000128059	ENSG00000128059	2.4.2.14		9238	protein-coding gene	gene with protein product		172450					Standard	NM_002703		Approved	GPAT, PRAT	uc003hbr.3	Q06203	OTTHUMG00000128842	ENST00000264220.2:c.101C>T	4.37:g.57301543G>A	ENSP00000264220:p.Thr34Ile						p.T34I	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN			1	238	-	Glioma(25;0.08)|all_neural(26;0.101)		34			Glutamine amidotransferase type-2.			Missense_Mutation	SNP	ENST00000264220.2	37	c.101C>T	CCDS3505.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900501	0.92035	.	.	ENSG00000128059	ENST00000264220	T	0.62941	-0.01	5.14	4.28	0.50868	Glutamine amidotransferase, type II (1);Glutamine amidotransferase, class-II (1);	0.046170	0.85682	D	0.000000	T	0.47060	0.1425	N	0.16130	0.375	0.58432	D	0.999999	B	0.06786	0.001	B	0.14023	0.01	T	0.44620	-0.9316	10	0.66056	D	0.02	-6.1192	14.942	0.71000	0.0:0.0:0.856:0.144	.	34	Q06203	PUR1_HUMAN	I	34	ENSP00000264220:T34I	ENSP00000264220:T34I	T	-	2	0	PPAT	56996300	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.904000	0.75708	1.356000	0.45884	0.561000	0.74099	ACT		0.652	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250781.2	NM_002703		18	83	0	0	0	0.069288	0	18	83					A	57301543	G	A	57301543	3	1	100	1	0	0	0	0	1	0	0	0	12302	1029	36	2	1496	2	PPAT	4	57301543	Missense_Mutation	SNP	G	TCGA-DJ-A2PW-01A-11D-A19J-08		57301543	133852733	4	2155											
PEX7	5191	broad.mit.edu	37	chr6	137147485	137147485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaatgatggtttgtttgatGtgacttggagtgagaacaac	14	3	0	4			TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr6:137147485G>A	ENST00000318471.4	+	3	298	c.217G>A	c.(217-219)Gtg>Atg	p.V73M	PEX7_ENST00000541292.1_Missense_Mutation_p.V73M|PEX7_ENST00000367756.4_Missense_Mutation_p.V73M	NM_000288.3	NP_000279.1	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	73					endochondral ossification (GO:0001958)|ether lipid biosynthetic process (GO:0008611)|fatty acid beta-oxidation (GO:0006635)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-2 binding (GO:0005053)|protein homodimerization activity (GO:0042803)			lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		TTTGTTTGATGTGACTTGGAG	0.438																																						ENST00000541292.1																			0				lung(7)|prostate(1)	8						c.(217-219)Gtg>Atg		peroxisomal biogenesis factor 7							197	173	181					6																	137147485		2203	4300	6503	SO:0001583	missense	5191				ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding	g.chr6:137147485G>A	AF180814	CCDS5180.1	6q21-q22.2	2013-01-10			ENSG00000112357	ENSG00000112357		"WD repeat domain containing"	8860	protein-coding gene	gene with protein product	"Refsum disease"	601757				9090381, 10673331	Standard	NM_000288		Approved	PTS2R, RD	uc003qhd.3	O00628	OTTHUMG00000015650	ENST00000318471.4:c.217G>A	6.37:g.137147485G>A	ENSP00000315680:p.Val73Met					PEX7_ENST00000318471.4_Missense_Mutation_p.V73M|PEX7_ENST00000367756.4_Missense_Mutation_p.V73M	p.V73M			O00628	PEX7_HUMAN		GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)	3	303	+	Colorectal(23;0.24)		73					C0H5X6	Missense_Mutation	SNP	ENST00000318471.4	37	c.217G>A	CCDS5180.1	.	.	.	.	.	.	.	.	.	.	G	31	5.070857	0.93950	.	.	ENSG00000112357	ENST00000367756;ENST00000541292;ENST00000318471	D;T;T	0.94497	-3.44;-0.16;-0.16	5.52	5.52	0.82312	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	0.97195	0.9083	M	0.80847	2.515	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.97406	0.9999	10	0.72032	D	0.01	-27.8536	19.4383	0.94807	0.0:0.0:1.0:0.0	.	73	O00628	PEX7_HUMAN	M	73	ENSP00000356730:V73M;ENSP00000441004:V73M;ENSP00000315680:V73M	ENSP00000315680:V73M	V	+	1	0	PEX7	137189178	1.000000	0.71417	0.985000	0.45067	0.987000	0.75469	8.961000	0.93122	2.589000	0.87451	0.655000	0.94253	GTG		0.438	PEX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042387.2	NM_000288		17	149	0	0	0	0.0333	0	17	149					A	137147485	G	A	137147485	3	1	100	1	0	0	0	0	1	0	0	0	11751	1377	48	2	227	2	PEX7	6	137147485	Missense_Mutation	SNP	G	TCGA-DJ-A2PW-01A-11D-A19J-08		137147485	33967582	5	2156											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		33	35	0	0	0	0.054565	0	33	35					T	140453136	A	T	140453136	3	4	100	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2PW-01A-11D-A19J-08		140453136	18685527	6	2157											
MLL3	58508	broad.mit.edu	37	chr7	151859891	151859891	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gattatatcagaatacaactGaatgagcgattgggttgatc	10	5	1	4			TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr7:151859891G>A	ENST00000262189.6	-	43	10989	c.10771C>T	c.(10771-10773)Cag>Tag	p.Q3591*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q3591*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3591					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GAATACAACTGAATGAGCGAT	0.433																																						ENST00000355193.2																			0											c.(10771-10773)Cag>Tag		lysine (K)-specific methyltransferase 2C							70	67	68					7																	151859891		2203	4300	6503	SO:0001587	stop_gained	58508							g.chr7:151859891G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.10771C>T	7.37:g.151859891G>A	ENSP00000262189:p.Gln3591*					KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Q3591*	p.Q3591*							43	10989	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.10771C>T	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	53|53	21.227398|21.227398	0.99938|0.99938	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877|ENST00000360104	.|.	.|.	.|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.000000|.	0.44285|.	D|.	0.000477|.	.|T	.|0.75436	.|0.3849	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73544	.|-0.3949	.|4	0.66056|.	D|.	0.02|.	.|.	19.451|19.451	0.94867|0.94867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	3591;3591;177|1096	.|.	ENSP00000262189:Q3591X|.	Q|S	-|-	1|2	0|0	MLL3|MLL3	151490824|151490824	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.843000|0.843000	0.47879|0.47879	9.467000|9.467000	0.97671|0.97671	2.593000|2.593000	0.87608|0.87608	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.433	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			5	52	0	0	0	0.021553	0	5	52					A	151859891	G	A	151859891	4	1	100	1	0	0	0	0	0	1	0	0	9622	1299	45	2	4032	2	MLL3	7	151859891	Nonsense_Mutation	SNP	G	TCGA-DJ-A2PW-01A-11D-A19J-08	11406755	151859891	7278772	7	2158											
GPR124	25960	broad.mit.edu	37	chr8	37693223	37693223	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccacagcaacacctcccGccctggagctgctgggcctg	11	18	0	0	rs576854487		TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr8:37693223G>A	ENST00000412232.2	+	13	1998	c.1985G>A	c.(1984-1986)cGc>cAc	p.R662H	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	662					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AACACCTCCCGCCCTGGAGCT	0.682													G|||	1	0.000199681	0	0	5008	,	,		12725	0		0.001	False		,,,				2504	0					ENST00000412232.2																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1984-1986)cGc>cAc		G protein-coupled receptor 124							48	54	52					8																	37693223		2201	4299	6500	SO:0001583	missense	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37693223G>A	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17849	protein-coding gene	gene with protein product	"tumor endothelial marker 5"	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.1985G>A	8.37:g.37693223G>A	ENSP00000406367:p.Arg662His					GPR124_ENST00000315215.7_Intron	p.R662H	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		13	1998	+			662					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.1985G>A	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	G	6.429	0.447309	0.12223	.	.	ENSG00000020181	ENST00000416514;ENST00000412232	T	0.58358	0.34	5.29	5.29	0.74685	.	0.126543	0.50627	D	0.000105	T	0.34745	0.0908	L	0.28274	0.84	0.45035	D	0.998054	B	0.27450	0.179	B	0.15052	0.012	T	0.16424	-1.0403	10	0.23891	T	0.37	-32.2337	9.6335	0.39793	0.1552:0.0:0.8448:0.0	.	662	Q96PE1	GP124_HUMAN	H	655;662	ENSP00000406367:R662H	ENSP00000406367:R662H	R	+	2	0	GPR124	37812381	0.699000	0.27786	0.981000	0.43875	0.044000	0.14063	1.904000	0.39868	2.497000	0.84241	0.655000	0.94253	CGC		0.682	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			9	82	0	0	0	0.047766	0	9	82					A	37693223	G	A	37693223	3	1	100	1	0	0	0	0	1	0	0	0	6638	1087	38	1	2014	1	GPR124	8	37693223	Missense_Mutation	SNP	G	TCGA-DJ-A2PW-01A-11D-A19J-08		37693223	108670799	8	2159											
HOOK3	84376	broad.mit.edu	37	chr8	42819533	42819533	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aagactcaatcaatctgattCtatagaagaccctaacagtc	5	10	4	4			TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr8:42819533C>G	ENST00000307602.4	+	9	895	c.695C>G	c.(694-696)tCt>tGt	p.S232C		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	232					cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			CAATCTGATTCTATAGAAGAC	0.413			T	RET	papillary thyroid																																	ENST00000307602.4				Dom	yes		8	8p11.21	84376	T	hook homolog 3			E	RET		papillary thyroid		0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31						c.(694-696)tCt>tGt		hook microtubule-tethering protein 3							109	106	107					8																	42819533		2203	4300	6503	SO:0001583	missense	84376				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding	g.chr8:42819533C>G	AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"hook homolog 3 (Drosophila)"			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.695C>G	8.37:g.42819533C>G	ENSP00000305699:p.Ser232Cys						p.S232C	NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)		9	895	+	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	232					D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	ENST00000307602.4	37	c.695C>G	CCDS6139.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.799121	0.90538	.	.	ENSG00000168172	ENST00000307602	T	0.20881	2.04	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.46698	0.1406	L	0.59436	1.845	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.77557	0.986;0.99	T	0.23332	-1.0191	10	0.66056	D	0.02	-7.4486	20.4084	0.99013	0.0:1.0:0.0:0.0	.	232;232	Q2VJ45;Q86VS8	.;HOOK3_HUMAN	C	232	ENSP00000305699:S232C	ENSP00000305699:S232C	S	+	2	0	HOOK3	42938690	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.436000	0.80404	2.833000	0.97629	0.650000	0.86243	TCT		0.413	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410		34	34	0	0	0	0.069456	0	34	34					G	42819533	C	G	42819533	3	3	100	1	0	0	0	0	1	0	0	0	7284	913	32	4	729	4	HOOK3	8	42819533	Missense_Mutation	SNP	C	TCGA-DJ-A2PW-01A-11D-A19J-08	5126310	42819533	103544489	9	2160											
CSMD3	114788	broad.mit.edu	37	chr8	113418891	113418891	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgactgcaaattcattgcCaattcttcttccgaatcttg	5	12	4	0			TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr8:113418891C>T	ENST00000297405.5	-	35	5915	c.5671G>A	c.(5671-5673)Ggc>Agc	p.G1891S	CSMD3_ENST00000455883.2_Missense_Mutation_p.G1787S|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1851S|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1821S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1891	Sushi 10. {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						AATTCATTGCCAATTCTTCTT	0.358										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.(5671-5673)Ggc>Agc		CUB and Sushi multiple domains 3							110	105	106					8																	113418891		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113418891C>T	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.5671G>A	8.37:g.113418891C>T	ENSP00000297405:p.Gly1891Ser	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.G1821S|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1787S|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1851S	p.G1891S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			35	5915	-			1891			Sushi 10.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.5671G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	34	5.292355	0.95546	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81	4.64	4.64	0.57946	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.53417	0.1795	M	0.78637	2.42	0.58432	D	0.999994	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.97110	0.994;0.93;1.0	T	0.55566	-0.8121	10	0.48119	T	0.1	.	18.0718	0.89410	0.0:1.0:0.0:0.0	.	1787;1891;1851	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	S	1851;1891;1161;1787;1821	ENSP00000345799:G1851S;ENSP00000297405:G1891S;ENSP00000341558:G1161S;ENSP00000412263:G1787S;ENSP00000343124:G1821S	ENSP00000297405:G1891S	G	-	1	0	CSMD3	113488067	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.609000	0.82925	2.574000	0.86865	0.655000	0.94253	GGC		0.358	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		9	79	0	0	0	0.058154	0	9	79					T	113418891	C	T	113418891	3	4	100	1	0	0	0	0	1	0	0	0	3946	594	21	2	5600	2	CSMD3	8	113418891	Missense_Mutation	SNP	C	TCGA-DJ-A2PW-01A-11D-A19J-08	70599358	113418891	32945131	10	2161											
FAM63B	54629	broad.mit.edu	37	chr15	59113964	59113964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcagctacaaccaactaGtggagaagatcatctcttgt	8	10	2	2			TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr15:59113964G>A	ENST00000559228.1	+	5	1253	c.1171G>A	c.(1171-1173)Gtg>Atg	p.V391M	FAM63B_ENST00000450403.2_Missense_Mutation_p.V391M			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	391										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CAACCAACTAGTGGAGAAGAT	0.388																																						ENST00000559228.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1171-1173)Gtg>Atg		family with sequence similarity 63, member B							120	114	116					15																	59113964		1906	4135	6041	SO:0001583	missense	54629							g.chr15:59113964G>A	AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09							26954	protein-coding gene	gene with protein product						10574461	Standard	NM_001040450		Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.1171G>A	15.37:g.59113964G>A	ENSP00000452885:p.Val391Met					FAM63B_ENST00000450403.2_Missense_Mutation_p.V391M	p.V391M			Q8NBR6	FA63B_HUMAN			5	1253	+			391					B2RTT8|Q9ULQ6	Missense_Mutation	SNP	ENST00000559228.1	37	c.1171G>A	CCDS42046.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.968022	0.92855	.	.	ENSG00000128923	ENST00000316848;ENST00000450403	T	0.52526	0.66	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.69726	0.3143	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.70714	-0.4796	10	0.56958	D	0.05	-2.6042	19.445	0.94843	0.0:0.0:1.0:0.0	.	391;391	Q8NBR6;Q8NBR6-2	FA63B_HUMAN;.	M	391	ENSP00000393231:V391M	ENSP00000326194:V391M	V	+	1	0	FAM63B	56901256	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.781000	0.99029	2.665000	0.90641	0.650000	0.86243	GTG		0.388	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1	NM_019092		7	46	0	0	0	0.047766	0	7	46					A	59113964	G	A	59113964	3	1	100	1	0	0	0	0	1	0	0	0	5597	1029	36	2	1189	2	FAM63B	15	59113964	Missense_Mutation	SNP	G	TCGA-DJ-A2PW-01A-11D-A19J-08		59113964	43417428	11	2162											
SGK269	79834	broad.mit.edu	37	chr15	77474126	77474126	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcggtggttgttactgtgaTtggcattagttttcacattg	12	5	1	1			TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr15:77474126T>C	ENST00000560626.2	-	4	618	c.143A>G	c.(142-144)aAt>aGt	p.N48S	PEAK1_ENST00000312493.4_Missense_Mutation_p.N48S|PEAK1_ENST00000558305.1_Missense_Mutation_p.N48S			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	48					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GTTACTGTGATTGGCATTAGT	0.483																																						ENST00000560626.2																			0											c.(142-144)aAt>aGt		pseudopodium-enriched atypical kinase 1							180	170	173					15																	77474126		1926	4111	6037	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77474126T>C		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.143A>G	15.37:g.77474126T>C	ENSP00000452796:p.Asn48Ser					PEAK1_ENST00000312493.4_Missense_Mutation_p.N48S|PEAK1_ENST00000558305.1_Missense_Mutation_p.N48S	p.N48S			Q9H792	PEAK1_HUMAN			4	618	-			48					Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.143A>G	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	T	10.41	1.341940	0.24339	.	.	ENSG00000173517	ENST00000312493	T	0.68765	-0.35	5.77	5.77	0.91146	.	0.558038	0.12692	U	0.447103	T	0.49695	0.1572	N	0.22421	0.69	0.29659	N	0.843333	B	0.22346	0.068	B	0.13407	0.009	T	0.43180	-0.9407	10	0.23891	T	0.37	-10.2808	8.1517	0.31145	0.1329:0.0:0.1388:0.7283	.	48	Q9H792	PEAK1_HUMAN	S	48	ENSP00000309230:N48S	ENSP00000309230:N48S	N	-	2	0	AC087465.1	75261181	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.362000	0.44169	2.330000	0.79161	0.528000	0.53228	AAT		0.483	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			16	124	0	0	0	0.038395	0	16	124					C	77474126	T	C	77474126	3	2	100	1	0	0	0	0	1	0	0	0	14211	1493	52	3	5113	3	SGK269	15	77474126	Missense_Mutation	SNP	T	TCGA-DJ-A2PW-01A-11D-A19J-08	18360162	77474126	25057266	12	2163											
PPM1D	8493	broad.mit.edu	37	chr17	58740817	58740818	+	Frame_Shift_Del	DEL	CT	CT	-													acaacctcacagcgaaagaaCtctgttaaactcaccatgcg							TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr17:58740817_58740818delCT	ENST00000305921.3	+	6	1954_1955	c.1722_1723delCT	c.(1720-1725)aactctfs	p.S575fs	RNU6-623P_ENST00000363143.1_RNA	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	575					G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			AGCGAAAGAACTCTGTTAAACT	0.465											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000305921.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15						c.(1720-1725)aactfs		protein phosphatase, Mg2+/Mn2+ dependent, 1D																																				SO:0001589	frameshift_variant	8493				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr17:58740817_58740818delCT	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9277	protein-coding gene	gene with protein product	"wild-type p53-induced phosphatase 1", "protein phosphatase 2C, delta isoform"	605100	"protein phosphatase 1D magnesium-dependent, delta isoform"			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.1722_1723delCT	17.37:g.58740819_58740820delCT	ENSP00000306682:p.Ser575fs		OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1033		p.NS574fs	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		6	1954_1955	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		574					Q53XP4|Q6P991|Q8IVR6	Frame_Shift_Del	DEL	ENST00000305921.3	37	c.1722_1723delCT	CCDS11625.1																																																																																				0.465	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620		27	81						27	81	---	---	---	---	-	58740818	CT	-	58740817	7	5	100	1	0	1	0	1	0	0	0	0	12337	564	20	0	1744	0	PPM1D	17	58740817	Frame_Shift_Del	DEL	CT	TCGA-DJ-A2PW-01A-11D-A19J-08		58740817	22454393	13	2164											
ZNF345	25850	broad.mit.edu	37	chr19	37368055	37368055	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggtgcaaaccttgcttaccAtcaaagaattcatactggtg	8	9	2	1			TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr19:37368055A>T	ENST00000529555.1	+	2	1111	c.323A>T	c.(322-324)cAt>cTt	p.H108L	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.H108L|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.H108L			Q14585	ZN345_HUMAN	zinc finger protein 345	108					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTGCTTACCATCAAAGAATT	0.423																																						ENST00000529555.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24						c.(322-324)cAt>cTt		zinc finger protein 345							68	69	69					19																	37368055		2203	4300	6503	SO:0001583	missense	25850				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding	g.chr19:37368055A>T	X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"Zinc fingers, C2H2-type"	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.323A>T	19.37:g.37368055A>T	ENSP00000431202:p.His108Leu					ZNF345_ENST00000589046.1_Missense_Mutation_p.H108L|ZNF345_ENST00000420450.1_Missense_Mutation_p.H108L|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron	p.H108L			Q14585	ZN345_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		2	1111	+	Esophageal squamous(110;0.183)		108						Missense_Mutation	SNP	ENST00000529555.1	37	c.323A>T	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	A	16.86	3.240005	0.58995	.	.	ENSG00000251247	ENST00000420450;ENST00000529555;ENST00000331800	D;D;T	0.86865	-2.18;-2.18;2.96	3.58	3.58	0.41010	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95265	0.8464	H	0.97265	3.97	0.34692	D	0.725865	D	0.69078	0.997	D	0.77557	0.99	D	0.97583	1.0112	8	.	.	.	.	10.7525	0.46217	1.0:0.0:0.0:0.0	.	108	Q14585	ZN345_HUMAN	L	108	ENSP00000431216:H108L;ENSP00000431202:H108L;ENSP00000331120:H108L	.	H	+	2	0	ZNF345	42059895	0.961000	0.32948	1.000000	0.80357	0.990000	0.78478	5.848000	0.69458	1.847000	0.53656	0.459000	0.35465	CAT		0.423	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1			10	36	0	0	0	0.058154	0	10	36					T	37368055	A	T	37368055	3	4	100	1	0	0	0	0	1	0	0	0	17856	217	8	5	325	5	ZNF345	19	37368055	Missense_Mutation	SNP	A	TCGA-DJ-A2PW-01A-11D-A19J-08		37368055	21760928	14	2165											
TRPM4	54795	broad.mit.edu	37	chr19	49713617	49713617	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcaggcaattgtgcaggCgaccccggagcccccagccg	13	16	1	0			TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr19:49713617C>T	ENST00000252826.5	+	21	3409	c.3283C>T	c.(3283-3285)Cga>Tga	p.R1095*	TRPM4_ENST00000355712.5_Nonsense_Mutation_p.R741*|TRPM4_ENST00000427978.2_Nonsense_Mutation_p.R950*	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1095	Calmodulin-binding.				calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)	p.R1095*(1)		breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		ATTGTGCAGGCGACCCCGGAG	0.622																																						ENST00000252826.5																			1	Substitution - Nonsense(1)	p.R1095*(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.(3283-3285)Cga>Tga		transient receptor potential cation channel, subfamily M, member 4							38	41	40					19																	49713617		2203	4300	6503	SO:0001587	stop_gained	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49713617C>T	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"Voltage-gated ion channels / Transient receptor potential cation channels"	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.3283C>T	19.37:g.49713617C>T	ENSP00000252826:p.Arg1095*					TRPM4_ENST00000355712.5_Nonsense_Mutation_p.R741*|TRPM4_ENST00000427978.2_Nonsense_Mutation_p.R950*	p.R1095*	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	21	3409	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	1095			Calmodulin-binding.		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Nonsense_Mutation	SNP	ENST00000252826.5	37	c.3283C>T	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	C	39	7.775985	0.98483	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	.	.	.	5.34	0.531	0.17108	.	0.707747	0.14145	N	0.338404	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-4.9386	8.097	0.30835	0.5257:0.3991:0.0:0.0752	.	.	.	.	X	1095;950;741	.	ENSP00000252826:R1095X	R	+	1	2	TRPM4	54405429	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.549000	0.06041	0.021000	0.15133	-0.714000	0.03626	CGA		0.622	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		7	48	0	0	0	0.02938	0	7	48					T	49713617	C	T	49713617	4	4	100	1	0	0	0	0	0	1	0	0	16585	760	27	1	3365	1	TRPM4	19	49713617	Nonsense_Mutation	SNP	C	TCGA-DJ-A2PW-01A-11D-A19J-08	12345562	49713617	9415366	15	2166											
IL11	3589	broad.mit.edu	37	chr19	55877466	55877466	+	Frame_Shift_Del	DEL	C	C	-													tggcgtgggcggccctgatgCccccccaggctgaggagggg					rs530006295		TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr19:55877466delC	ENST00000264563.2	-	5	571	c.509delG	c.(508-510)ggcfs	p.G170fs	FAM71E2_ENST00000424985.3_5'Flank|IL11_ENST00000590625.1_Frame_Shift_Del_p.G91fs|IL11_ENST00000585513.1_Frame_Shift_Del_p.G170fs	NM_000641.3	NP_000632.1	P20809	IL11_HUMAN	interleukin 11	170					B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|fat cell differentiation (GO:0045444)|megakaryocyte differentiation (GO:0030219)|negative regulation of hormone secretion (GO:0046888)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|interleukin-11 receptor binding (GO:0005142)			large_intestine(1)|skin(1)	2	Breast(117;0.191)	Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GGCCCTGATGCCCCCCCAGGC	0.746																																						ENST00000264563.2																			0				large_intestine(1)|skin(1)	2						c.(508-510)gcfs		interleukin 11	Oprelvekin(DB00038)			15,4075		4,7,2034	8	8	8			-1.5	0.2	19		8	40,7894		4,32,3931	no	frameshift	IL11	NM_000641.2		8,39,5965	A1A1,A1R,RR		0.5042,0.3667,0.4574			55877466	55,11969	2166	4234	6400	SO:0001589	frameshift_variant	3589				B cell differentiation|fat cell differentiation|megakaryocyte differentiation|negative regulation of hormone secretion|platelet activation|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity|growth factor activity|interleukin-11 receptor binding	g.chr19:55877466delC	X58377	CCDS12923.1, CCDS59423.1	19q13.3-q13.4	2014-01-30			ENSG00000095752	ENSG00000095752		"Interleukins and interleukin receptors", "Endogenous ligands"	5966	protein-coding gene	gene with protein product	"adipogenesis inhibitory factor", "oprelvekin"	147681				1386338	Standard	NM_001267718		Approved	IL-11, AGIF	uc002qks.2	P20809		ENST00000264563.2:c.509delG	19.37:g.55877466delC	ENSP00000264563:p.Gly170fs					IL11_ENST00000585513.1_Frame_Shift_Del_p.G170fs|IL11_ENST00000590625.1_Frame_Shift_Del_p.G91fs	p.G170fs	NM_000641.3	NP_000632.1	P20809	IL11_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	5	571	-	Breast(117;0.191)	Renal(1328;0.245)	170					B4DQV5|Q96EB4	Frame_Shift_Del	DEL	ENST00000264563.2	37	c.509delG	CCDS12923.1																																																																																				0.746	IL11-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453027.1	NM_000641		2	4						2	4	---	---	---	---	-	55877466	C	-	55877466	7	5	100	1	0	1	0	1	0	0	0	0	7622	739	26	0	94	0	IL11	19	55877466	Frame_Shift_Del	DEL	C	TCGA-DJ-A2PW-01A-11D-A19J-08	6163849	55877466	3251517	16	2167											
PRNP	5621	broad.mit.edu	37	chr20	4680251	4680251	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggggggccttggcggctacAtgctgggaagtgccatgagc	18	9	0	1	rs1799990	byFrequency	TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr20:4680251A>G	ENST00000379440.4	+	2	672	c.385A>G	c.(385-387)Atg>Gtg	p.M129V	PRNP_ENST00000430350.2_Missense_Mutation_p.M129V	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	F7VJQ1	APRIO_HUMAN	prion protein	0						integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)		p.M129V(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						TGGCGGCTACATGCTGGGAAG	0.547													A|||	1335	0.266573	0.3525	0.4063	5008	,	,		16338	0.0248		0.325	False		,,,				2504	0.2403					ENST00000379440.4																			2	Substitution - Missense(2)	p.M129V(2)	central_nervous_system(1)|skin(1)	central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14	GRCh37	CM890104	PRNP	M	rs1799990	c.(385-387)Atg>Gtg		prion protein	Tetracycline(DB00759)	A	VAL/MET,VAL/MET,VAL/MET,VAL/MET,VAL/MET	1504,2902	476.6+/-357.7	261,982,960	72	56	62	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	385,385,385,385,385	2.9	1.0	20	dbSNP_89	62	2889,5711	452.0+/-362.8	486,1917,1897	yes	missense,missense,missense,missense,missense	PRNP	NM_000311.3,NM_001080121.1,NM_001080122.1,NM_001080123.1,NM_183079.2	21,21,21,21,21	747,2899,2857	GG,GA,AA	http://www.ncbi.nlm.nih.gov/pubmed?term	33.593,34.1353,33.7767	benign,benign,benign,benign,benign	129/254,129/254,129/254,129/254,129/254	4680251	4393,8613	2203	4300	6503	SO:0001583	missense	5621				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding	g.chr20:4680251A>G	M13899	CCDS13080.1	20p13	2014-06-05	2008-07-28		ENSG00000171867	ENSG00000171867		"CD molecules"	9449	protein-coding gene	gene with protein product	"Creutzfeldt-Jakob disease", "Gerstmann-Strausler-Scheinker syndrome", "fatal familial insomnia", "p27-30"	176640	"prion protein (p27-30)"	PRIP, GSS, CJD			Standard	NM_000311		Approved	CD230, PRP, AltPrP	uc002wkw.4	F7VJQ1	OTTHUMG00000031786	ENST00000379440.4:c.385A>G	20.37:g.4680251A>G	ENSP00000368752:p.Met129Val					PRNP_ENST00000430350.2_Missense_Mutation_p.M129V	p.M129V	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	P04156	PRIO_HUMAN			2	672	+			129		M -> V (polymorphism; determines the disease phenotype in patients who have a PrP mutation at position 178. Patients with M-129 develop FFI, those with V-129 develop CJD; dbSNP:rs1799990).	Interaction with GRB2, ERI3 and SYN1 (By similarity).			Missense_Mutation	SNP	ENST00000379440.4	37	c.385A>G	CCDS13080.1	576	0.26373626373626374	172	0.34959349593495936	140	0.3867403314917127	12	0.02097902097902098	252	0.3324538258575198	A	11.91	1.778679	0.31502	0.341353	0.33593	ENSG00000171867	ENST00000379440;ENST00000430350;ENST00000424424;ENST00000444805;ENST00000457586	D;D;D;T	0.91996	-2.95;-2.95;-2.95;-1.42	5.3	2.93	0.34026	Prion/Doppel protein, beta-ribbon domain (2);	0.219208	0.38720	N	0.001589	T	0.00012	0.0000	L	0.47716	1.5	0.30001	P	0.8160000000000001	B;B;B	0.25235	0.009;0.082;0.121	B;B;B	0.22601	0.012;0.036;0.04	T	0.04693	-1.0933	9	0.66056	D	0.02	-2.3944	5.8372	0.18613	0.6585:0.1745:0.0:0.167	rs1799990;rs17850971;rs17858648;rs52800775;rs1799990	129;129;161	B2NI04;P04156;O75942	.;PRIO_HUMAN;.	V	129;129;129;68;129	ENSP00000368752:M129V;ENSP00000399376:M129V;ENSP00000411599:M129V;ENSP00000415284:M129V	ENSP00000368752:M129V	M	+	1	0	PRNP	4628251	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.521000	0.22893	0.281000	0.22233	0.533000	0.62120	ATG		0.547	PRNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077820.2	NM_000311		4	47	0	0	0	0.009096	0	4	47					G	4680251	A	G	4680251	3	3	100	1	0	0	0	0	1	0	0	0	12544	217	8	3	387	3	PRNP	20	4680251	Missense_Mutation	SNP	A	TCGA-DJ-A2PW-01A-11D-A19J-08		4680251	58345269	17	2168											
TNRC6B	23112	broad.mit.edu	37	chr22	40719206	40719206	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggcagccctgctcctttactAcctggtgaccttctgggagg	12	13	1	1			TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr22:40719206A>T	ENST00000454349.2	+	23	5674	c.5463A>T	c.(5461-5463)ctA>ctT	p.L1821L	TNRC6B_ENST00000402203.1_Silent_p.L1017L|TNRC6B_ENST00000335727.9_Silent_p.L1711L|TNRC6B_ENST00000301923.9_Silent_p.L1017L	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1821					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)|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)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						CTCCTTTACTACCTGGTGACC	0.517																																						ENST00000454349.2																			0				breast(1)	1						c.(5461-5463)ctA>ctT		trinucleotide repeat containing 6B							54	54	54					22																	40719206		1897	4122	6019	SO:0001819	synonymous_variant	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40719206A>T	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"Trinucleotide (CAG) repeat containing"	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.5463A>T	22.37:g.40719206A>T						TNRC6B_ENST00000402203.1_Silent_p.L1017L|TNRC6B_ENST00000335727.8_Silent_p.L1711L|TNRC6B_ENST00000301923.9_Silent_p.L1017L	p.L1821L	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN			23	5674	+			1821					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Silent	SNP	ENST00000454349.2	37	c.5463A>T	CCDS54533.1																																																																																				0.517	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				4	41	0	0	0	0.014758	0	4	41					T	40719206	A	T	40719206	2	4	100	1	0	0	0	0	0	0	0	1	16338	378	14	5		5	TNRC6B	22	40719206	Silent	SNP	A	TCGA-DJ-A2PW-01A-11D-A19J-08		40719206	10585360	18	2169											
RAD51AP2	729475	broad.mit.edu	37	chr2	17698454	17698454	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaattatttataatccaaCaatttcctctatttcttctc	1	10	3	0			TCGA-DJ-A2PX-01A-11D-A18F-08	TCGA-DJ-A2PX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee64b7c9-39cc-43df-a923-b6d53a164bc0	a3aa542a-2487-41cb-84ce-7bfe128b9948	g.chr2:17698454C>T	ENST00000399080.2	-	1	1252	c.1229G>A	c.(1228-1230)tGt>tAt	p.C410Y		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	410										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TATAATCCAACAATTTCCTCT	0.313																																						ENST00000399080.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1228-1230)tGt>tAt		RAD51 associated protein 2							50	48	49					2																	17698454		1800	4064	5864	SO:0001583	missense	729475							g.chr2:17698454C>T	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.1229G>A	2.37:g.17698454C>T	ENSP00000382030:p.Cys410Tyr						p.C410Y	NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN			1	1252	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		410						Missense_Mutation	SNP	ENST00000399080.2	37	c.1229G>A	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.819769	0.00595	.	.	ENSG00000214842	ENST00000399080	T	0.21932	1.98	4.61	-1.91	0.07641	.	.	.	.	.	T	0.06050	0.0157	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.38394	-0.9663	9	0.02654	T	1	13.1493	3.6466	0.08187	0.2717:0.4071:0.0:0.3212	.	410	Q09MP3	R51A2_HUMAN	Y	410	ENSP00000382030:C410Y	ENSP00000382030:C410Y	C	-	2	0	RAD51AP2	17561935	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.520000	0.06252	-0.278000	0.09180	-0.251000	0.11542	TGT		0.313	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		13	47	0	0	0	0.00136819	0	13	47					T	17698454	C	T	17698454	3	4	101	1	0	0	0	0	1	0	0	0	12987	478	17	2	2262	2	RAD51AP2	2	17698454	Missense_Mutation	SNP	C	TCGA-DJ-A2PX-01A-11D-A18F-08		17698454	225500919	1	2170											
HEPACAM2	253012	broad.mit.edu	37	chr7	92821645	92821645	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaaatcttgccccgatacaCaatcagaggctggaacagac	9	12	2	2			TCGA-DJ-A2PX-01A-11D-A18F-08	TCGA-DJ-A2PX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee64b7c9-39cc-43df-a923-b6d53a164bc0	a3aa542a-2487-41cb-84ce-7bfe128b9948	g.chr7:92821645C>A	ENST00000394468.2	-	9	1384	c.1307G>T	c.(1306-1308)tGt>tTt	p.C436F	HEPACAM2_ENST00000453812.2_Missense_Mutation_p.C459F|HEPACAM2_ENST00000492616.1_5'UTR|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.V416L|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.C424F	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	436					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						CCCCGATACACAATCAGAGGC	0.398																																						ENST00000394468.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						c.(1306-1308)tGt>tTt		HEPACAM family member 2							128	116	120					7																	92821645		2203	4300	6503	SO:0001583	missense	253012					integral to membrane		g.chr7:92821645C>A	AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.1307G>T	7.37:g.92821645C>A	ENSP00000377980:p.Cys436Phe					HEPACAM2_ENST00000453812.2_Missense_Mutation_p.C459F|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.V416L|HEPACAM2_ENST00000492616.1_5'UTR|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.C424F	p.C436F	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN			9	1384	-			436					B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Missense_Mutation	SNP	ENST00000394468.2	37	c.1307G>T	CCDS43616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.20|12.20	1.865566|1.865566	0.32977|0.32977	.|.	.|.	ENSG00000188175|ENSG00000188175	ENST00000394468;ENST00000341723;ENST00000453812|ENST00000440868	T;T;T|T	0.47869|0.57595	0.83;0.83;0.83|0.39	4.35|4.35	4.35|4.35	0.52113|0.52113	.|.	0.627597|.	0.16881|.	N|.	0.195718|.	T|T	0.36963|0.36963	0.0986|0.0986	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;B;B|B	0.16802|0.02656	0.003;0.011;0.019|0.0	B;B;B|B	0.23018|0.04013	0.012;0.012;0.043|0.001	T|T	0.26155|0.26155	-1.0111|-1.0111	10|9	0.10111|0.66056	T|D	0.7|0.02	-0.1274|-0.1274	11.8135|11.8135	0.52195|0.52195	0.2465:0.7535:0.0:0.0|0.2465:0.7535:0.0:0.0	.|.	459;436;424|416	E9PDV5;A8MVW5;A8MVW5-2|C9JN07	.;HECA2_HUMAN;.|.	F|L	436;424;459|416	ENSP00000377980:C436F;ENSP00000340532:C424F;ENSP00000390204:C459F|ENSP00000389592:V416L	ENSP00000340532:C424F|ENSP00000389592:V416L	C|V	-|-	2|1	0|0	HEPACAM2|HEPACAM2	92659581|92659581	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.004000|0.004000	0.04260|0.04260	0.450000|0.450000	0.21762|0.21762	2.397000|2.397000	0.81536|0.81536	0.563000|0.563000	0.77884|0.77884	TGT|GTG		0.398	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151		22	73	1	0	1.36565e-18	0.00278032	1.08068e-16	22	73					A	92821645	C	A	92821645	3	1	101	1	0	0	0	0	1	0	0	0	7053	478	17	4	89	4	HEPACAM2	7	92821645	Missense_Mutation	SNP	C	TCGA-DJ-A2PX-01A-11D-A18F-08		92821645	66317018	2	2171											
SHFM1	7979	broad.mit.edu	37	chr7	96324177	96324177	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atcctcccagacatgtgcatCttcatcttcatctaagccag	5	14	5	1			TCGA-DJ-A2PX-01A-11D-A18F-08	TCGA-DJ-A2PX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee64b7c9-39cc-43df-a923-b6d53a164bc0	a3aa542a-2487-41cb-84ce-7bfe128b9948	g.chr7:96324177C>G	ENST00000248566.2	-	2	230	c.103G>C	c.(103-105)Gat>Cat	p.D35H	SHFM1_ENST00000417009.1_Missense_Mutation_p.D35H|SHFM1_ENST00000413065.1_Missense_Mutation_p.D35H|SHFM1_ENST00000444799.1_Missense_Mutation_p.D35H	NM_006304.1	NP_006295.1	P60896	DSS1_HUMAN	split hand/foot malformation (ectrodactyly) type 1	35	Asp/Glu-rich (highly acidic).				double-strand break repair via homologous recombination (GO:0000724)	proteasome complex (GO:0000502)				breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987)					ACATGTGCATCTTCATCTTCA	0.343								Homologous recombination																														ENST00000248566.2																			0				breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(103-105)Gat>Cat	Homologous recombination	split hand/foot malformation (ectrodactyly) type 1							160	155	157					7																	96324177		2203	4300	6503	SO:0001583	missense	7979				proteolysis	proteasome complex	peptidase activity|protein binding	g.chr7:96324177C>G	U41515	CCDS5646.1	7q21.3	2010-04-22			ENSG00000127922	ENSG00000127922			10845	protein-coding gene	gene with protein product	"deleted in split-hand/foot 1"	601285		SHFD1		1895319, 8733122	Standard	NM_006304		Approved	DSS1, Shfdg1, ECD, SEM1, SHSF1	uc003uoi.3	P60896	OTTHUMG00000150680	ENST00000248566.2:c.103G>C	7.37:g.96324177C>G	ENSP00000248566:p.Asp35His					SHFM1_ENST00000444799.1_Missense_Mutation_p.D35H|SHFM1_ENST00000413065.1_Missense_Mutation_p.D35H|SHFM1_ENST00000417009.1_Missense_Mutation_p.D35H	p.D35H	NM_006304.1	NP_006295.1	P60896	DSS1_HUMAN			2	230	-	all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987)		35			Asp/Glu-rich (highly acidic).		Q13437|Q61067	Missense_Mutation	SNP	ENST00000248566.2	37	c.103G>C	CCDS5646.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522475	0.64747	.	.	ENSG00000127922	ENST00000417009;ENST00000444799;ENST00000413065;ENST00000248566	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.67221	0.2870	.	.	.	0.80722	D	1	D;D	0.89917	1.0;0.987	D;D	0.91635	0.999;0.961	T	0.69363	-0.5165	9	0.56958	D	0.05	.	18.8871	0.92383	0.0:1.0:0.0:0.0	.	35;35	F2Z309;P60896	.;DSS1_HUMAN	H	35	ENSP00000416322:D35H;ENSP00000390049:D35H;ENSP00000409481:D35H;ENSP00000248566:D35H	ENSP00000248566:D35H	D	-	1	0	SHFM1	96162113	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.599000	0.82757	2.728000	0.93425	0.650000	0.86243	GAT		0.343	SHFM1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319595.1	NM_006304		3	72	0	0	0	0.000602214	0	3	72					G	96324177	C	G	96324177	3	3	101	1	0	0	0	0	1	0	0	0	14278	913	32	4	117	4	SHFM1	7	96324177	Missense_Mutation	SNP	C	TCGA-DJ-A2PX-01A-11D-A18F-08	3502532	96324177	62814486	3	2172											
FAT3	120114	broad.mit.edu	37	chr11	92258019	92258019	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtatctgtcattcagatccAggctgaagatcctgactcca	8	12	3	4			TCGA-DJ-A2PX-01A-11D-A18F-08	TCGA-DJ-A2PX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee64b7c9-39cc-43df-a923-b6d53a164bc0	a3aa542a-2487-41cb-84ce-7bfe128b9948	g.chr11:92258019A>G	ENST00000298047.6	+	2	3529	c.3512A>G	c.(3511-3513)cAg>cGg	p.Q1171R	FAT3_ENST00000525166.1_Missense_Mutation_p.Q1021R|FAT3_ENST00000409404.2_Missense_Mutation_p.Q1171R|FAT3_ENST00000541502.1_Missense_Mutation_p.Q1171R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1171	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTCAGATCCAGGCTGAAGAT	0.403										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(3511-3513)cAg>cGg		FAT atypical cadherin 3							53	53	53					11																	92258019		1930	4138	6068	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92258019A>G	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.3512A>G	11.37:g.92258019A>G	ENSP00000298047:p.Gln1171Arg	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.Q1171R|FAT3_ENST00000541502.1_Missense_Mutation_p.Q1171R|FAT3_ENST00000525166.1_Missense_Mutation_p.Q1021R	p.Q1171R			Q8TDW7	FAT3_HUMAN			2	3529	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1171			Cadherin 11.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.3512A>G		.	.	.	.	.	.	.	.	.	.	A	23.2	4.392036	0.83011	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.66	5.66	0.87406	.	.	.	.	.	T	0.42245	0.1194	N	0.11106	0.095	0.38813	D	0.95546	D	0.54772	0.968	P	0.54270	0.747	T	0.42413	-0.9453	9	0.24483	T	0.36	.	15.9012	0.79377	1.0:0.0:0.0:0.0	.	1171	Q8TDW7-3	.	R	1171;1171;1171;1021	ENSP00000298047:Q1171R;ENSP00000387040:Q1171R;ENSP00000443786:Q1171R;ENSP00000432586:Q1021R	ENSP00000298047:Q1171R	Q	+	2	0	FAT3	91897667	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.300000	0.78841	2.167000	0.68274	0.528000	0.53228	CAG		0.403	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		3	43	0	0	0	6.4e-05	0	3	43					G	92258019	A	G	92258019	3	3	101	1	0	0	0	0	1	0	0	0	5691	188	7	3	3518	3	FAT3	11	92258019	Missense_Mutation	SNP	A	TCGA-DJ-A2PX-01A-11D-A18F-08		92258019	42748497	4	2173											
CYP11A1	1583	broad.mit.edu	37	chr15	74630341	74630341	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggttgcttcctggttaaagGgccagaaggtgaaggagatg	17	5	0	3			TCGA-DJ-A2PX-01A-11D-A18F-08	TCGA-DJ-A2PX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee64b7c9-39cc-43df-a923-b6d53a164bc0	a3aa542a-2487-41cb-84ce-7bfe128b9948	g.chr15:74630341G>A	ENST00000268053.6	-	9	1692	c.1538C>T	c.(1537-1539)cCc>cTc	p.P513L	CYP11A1_ENST00000358632.4_Missense_Mutation_p.P355L|CYP11A1_ENST00000419019.2_Missense_Mutation_p.P355L	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	513					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	CTGGTTAAAGGGCCAGAAGGT	0.552																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	ENST00000358632.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1063-1065)cCc>cTc		cytochrome P450, family 11, subfamily A, polypeptide 1	Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)						140	117	125					15																	74630341		2198	4297	6495	SO:0001583	missense	1583				C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	g.chr15:74630341G>A	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"Cytochrome P450s"	2590	protein-coding gene	gene with protein product	"cholesterol monooxygenase (side-chain-cleaving)"	118485	"cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.1538C>T	15.37:g.74630341G>A	ENSP00000268053:p.Pro513Leu					CYP11A1_ENST00000268053.6_Missense_Mutation_p.P513L|CYP11A1_ENST00000419019.2_Missense_Mutation_p.P355L	p.P355L	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN			9	1759	-			513					A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	ENST00000268053.6	37	c.1064C>T	CCDS32291.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517508	0.85495	.	.	ENSG00000140459	ENST00000268053;ENST00000358632;ENST00000419019;ENST00000452422	T;T;T	0.71817	-0.6;-0.6;-0.6	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.81365	0.4807	L	0.49126	1.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82882	-0.0237	10	0.66056	D	0.02	-14.5472	18.2052	0.89852	0.0:0.0:1.0:0.0	.	483;513	B4DTE5;P05108	.;CP11A_HUMAN	L	513;355;355;278	ENSP00000268053:P513L;ENSP00000351455:P355L;ENSP00000405488:P355L	ENSP00000268053:P513L	P	-	2	0	CYP11A1	72417394	1.000000	0.71417	0.943000	0.38184	0.683000	0.39861	7.899000	0.87370	2.393000	0.81446	0.549000	0.68633	CCC		0.552	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1			16	40	0	0	0	0.000566183	0	16	40					A	74630341	G	A	74630341	3	1	101	1	0	0	0	0	1	0	0	0	4144	1232	43	2	31	2	CYP11A1	15	74630341	Missense_Mutation	SNP	G	TCGA-DJ-A2PX-01A-11D-A18F-08		74630341	27901051	5	2174											
ZNF280B	140883	broad.mit.edu	37	chr22	22842418	22842418	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgaaaattttgagacaaaAgggacaaagcaaattctttg	8	4	1	2			TCGA-DJ-A2PX-01A-11D-A18F-08	TCGA-DJ-A2PX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee64b7c9-39cc-43df-a923-b6d53a164bc0	a3aa542a-2487-41cb-84ce-7bfe128b9948	g.chr22:22842418A>G	ENST00000406426.1	-	4	2048	c.1306T>C	c.(1306-1308)Ttt>Ctt	p.F436L	ZNF280B_ENST00000360412.2_Missense_Mutation_p.F436L			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	436					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTGAGACAAAAGGGACAAAGC	0.428																																						ENST00000360412.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22						c.(1306-1308)Ttt>Ctt		zinc finger protein 280B							110	105	107					22																	22842418		2203	4300	6503	SO:0001583	missense	140883				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22842418A>G	AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"zinc finger protein 279", "suppressor of hairy wing homolog 2 (Drosophila)"	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.1306T>C	22.37:g.22842418A>G	ENSP00000385998:p.Phe436Leu					ZNF280B_ENST00000406426.1_Missense_Mutation_p.F436L	p.F436L	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	4	2081	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	436						Missense_Mutation	SNP	ENST00000406426.1	37	c.1306T>C	CCDS13799.1	.	.	.	.	.	.	.	.	.	.	A	19.06	3.754591	0.69648	.	.	ENSG00000198477	ENST00000406426;ENST00000360412	T;T	0.58940	0.3;0.3	4.85	4.85	0.62838	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.48333	0.1494	L	0.35487	1.065	0.42761	D	0.993803	P	0.35612	0.512	B	0.36989	0.238	T	0.53330	-0.8454	9	0.52906	T	0.07	-16.5218	12.726	0.57170	1.0:0.0:0.0:0.0	.	436	Q86YH2	Z280B_HUMAN	L	436	ENSP00000385998:F436L;ENSP00000353586:F436L	ENSP00000353586:F436L	F	-	1	0	ZNF280B	21172418	1.000000	0.71417	0.920000	0.36463	0.980000	0.70556	8.122000	0.89584	2.172000	0.68678	0.533000	0.62120	TTT		0.428	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764		3	114	0	0	0	6.4e-05	0	3	114					G	22842418	A	G	22842418	3	3	101	1	0	0	0	0	1	0	0	0	17812	72	3	3	329	3	ZNF280B	22	22842418	Missense_Mutation	SNP	A	TCGA-DJ-A2PX-01A-11D-A18F-08		22842418	28462148	6	2175											
CLSTN1	22883	broad.mit.edu	37	chr1	9804008	9804008	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcagaaggatcctgacggaaGaggaagatcagccggcaccc	13	11	2	4			TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr1:9804008G>A	ENST00000377298.4	-	9	2082	c.1290C>T	c.(1288-1290)ctC>ctT	p.L430L	CLSTN1_ENST00000377288.3_Silent_p.L430L|CLSTN1_ENST00000361311.4_Silent_p.L420L	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	430					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-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;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CCTGACGGAAGAGGAAGATCA	0.483																																						ENST00000377298.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						c.(1288-1290)ctC>ctT		calsyntenin 1							106	114	111					1																	9804008		2203	4300	6503	SO:0001819	synonymous_variant	22883				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding	g.chr1:9804008G>A	AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"Cadherins / Cadherin-related"	17447	protein-coding gene	gene with protein product	"cadherin-related family member 12"	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.1290C>T	1.37:g.9804008G>A						CLSTN1_ENST00000361311.4_Silent_p.L420L|CLSTN1_ENST00000377288.3_Silent_p.L430L	p.L430L	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)	9	2082	-	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-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)	430					A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Silent	SNP	ENST00000377298.4	37	c.1290C>T	CCDS30580.1																																																																																				0.483	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1			6	110	0	0	0	0.001168	0	6	110					A	9804008	G	A	9804008	2	1	102	1	0	0	0	0	0	0	0	1	3561	929	33	2		2	CLSTN1	1	9804008	Silent	SNP	G	TCGA-DJ-A2PY-01A-11D-A18F-08		9804008	239446613	1	2176											
FMO3	2328	broad.mit.edu	37	chr1	171079976	171079976	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtggctcctgggtgatgaGccgggtctgggacaatggtt	17	7	1	2			TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr1:171079976G>A	ENST00000367755.4	+	6	776	c.665G>A	c.(664-666)aGc>aAc	p.S222N	FMO3_ENST00000392085.2_Missense_Mutation_p.S222N|FMO3_ENST00000538429.1_Missense_Mutation_p.S159N|FMO3_ENST00000542847.1_Missense_Mutation_p.S202N	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	222					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	TGGGTGATGAGCCGGGTCTGG	0.463																																						ENST00000367755.4																			0				endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31						c.(664-666)aGc>aAc		flavin containing monooxygenase 3							195	173	181					1																	171079976		2203	4300	6503	SO:0001583	missense	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171079976G>A	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.665G>A	1.37:g.171079976G>A	ENSP00000356729:p.Ser222Asn					FMO3_ENST00000542847.1_Missense_Mutation_p.S202N|FMO3_ENST00000538429.1_Missense_Mutation_p.S159N|FMO3_ENST00000392085.2_Missense_Mutation_p.S222N	p.S222N	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN			6	776	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		222					B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	c.665G>A	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.272037	0.23221	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	4.99	4.07	0.47477	.	0.167172	0.64402	D	0.000004	T	0.30696	0.0773	N	0.25789	0.76	0.36520	D	0.870105	P;B;B	0.52061	0.95;0.4;0.31	P;B;B	0.55577	0.779;0.251;0.367	T	0.12734	-1.0536	10	0.16896	T	0.51	-17.5315	6.313	0.21174	0.1562:0.16:0.6837:0.0	.	159;202;222	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	N	222;222;202;159	ENSP00000356729:S222N;ENSP00000375935:S222N;ENSP00000444073:S202N;ENSP00000439500:S159N	ENSP00000356729:S222N	S	+	2	0	FMO3	169346600	0.596000	0.26866	0.953000	0.39169	0.641000	0.38312	1.673000	0.37534	1.293000	0.44690	0.650000	0.86243	AGC		0.463	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894		5	120	0	0	0	0.001168	0	5	120					A	171079976	G	A	171079976	3	1	102	1	0	0	0	0	1	0	0	0	5956	971	34	2	683	2	FMO3	1	171079976	Missense_Mutation	SNP	G	TCGA-DJ-A2PY-01A-11D-A18F-08	161275968	171079976	78170645	2	2177											
GPD2	2820	broad.mit.edu	37	chr2	157352615	157352615	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaccagttaacagggagccTccttccagagaagctcagct	10	12	1	1			TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr2:157352615T>G	ENST00000310454.6	+	3	534	c.162T>G	c.(160-162)ccT>ccG	p.P54P	GPD2_ENST00000438166.2_Silent_p.P54P|GPD2_ENST00000540309.1_Silent_p.P54P|GPD2_ENST00000409125.4_Intron|AC011308.1_ENST00000601086.1_Splice_Site_p.G8G|GPD2_ENST00000409674.1_Silent_p.P54P	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	54					camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						ACAGGGAGCCTCCTTCCAGAG	0.443																																						ENST00000601086.1																			0											c.e2-1									86	82	83					2																	157352615		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr2:157352615T>G		CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"EF-hand domain containing"	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.162T>G	2.37:g.157352615T>G						GPD2_ENST00000310454.6_Silent_p.P54P|GPD2_ENST00000409674.1_Silent_p.P54P|GPD2_ENST00000540309.1_Silent_p.P54P|GPD2_ENST00000409125.4_Intron|GPD2_ENST00000438166.2_Silent_p.P54P	p.G8_splice							2	23	-								A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Splice_Site	SNP	ENST00000310454.6	37	c.22_splice	CCDS2202.1																																																																																				0.443	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254910.3			4	42	0	0	0	0.000248	0	4	42					G	157352615	T	G	157352615	2	3	102	1	0	0	0	0	0	0	0	1	6606	1538	54	5		5	GPD2	2	157352615	Silent	SNP	T	TCGA-DJ-A2PY-01A-11D-A18F-08		157352615	85846758	3	2178											
ANXA3	306	broad.mit.edu	37	chr4	79517010	79517010	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaaattcactgagatcctGtgtttaaggagctttcctca	8	9	2	1			TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr4:79517010G>A	ENST00000264908.6	+	9	982	c.603G>A	c.(601-603)ctG>ctA	p.L201L	ANXA3_ENST00000503570.2_Silent_p.L162L|ANXA3_ENST00000512884.1_Silent_p.L162L	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	201					defense response to bacterium (GO:0042742)|neutrophil degranulation (GO:0043312)|phagocytosis (GO:0006909)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CTGAGATCCTGTGTTTAAGGA	0.328																																					GBM(2;126 157 27790 28920 42492)	ENST00000264908.6																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(601-603)ctG>ctA		annexin A3							114	114	114					4																	79517010		2203	4300	6503	SO:0001819	synonymous_variant	306				defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity	g.chr4:79517010G>A	M63310	CCDS3584.1	4q21.21	2009-07-10			ENSG00000138772	ENSG00000138772	3.1.4.43	"Annexins"	541	protein-coding gene	gene with protein product		106490		ANX3		1830024	Standard	XM_005262973		Approved		uc003hld.3	P12429	OTTHUMG00000130198	ENST00000264908.6:c.603G>A	4.37:g.79517010G>A						ANXA3_ENST00000503570.2_Silent_p.L162L|ANXA3_ENST00000512884.1_Silent_p.L162L	p.L201L	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN			9	982	+			201					B2R9W6|Q6LET2	Silent	SNP	ENST00000264908.6	37	c.603G>A	CCDS3584.1																																																																																				0.328	ANXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252516.3	NM_005139		3	26	0	0	0	0.004672	0	3	26					A	79517010	G	A	79517010	2	1	102	1	0	0	0	0	0	0	0	1	719	1364	48	2		2	ANXA3	4	79517010	Silent	SNP	G	TCGA-DJ-A2PY-01A-11D-A18F-08		79517010	111637266	4	2179											
SGK1	6446	broad.mit.edu	37	chr6	134495197	134495197	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcctgaggttgggagatcttCaagatggactgaacttcagg	13	7	3	4			TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr6:134495197C>T	ENST00000237305.7	-	3	262	c.174G>A	c.(172-174)ttG>ttA	p.L58L	SGK1_ENST00000413996.3_Silent_p.L72L|SGK1_ENST00000528577.1_Silent_p.L86L|SGK1_ENST00000367857.5_Silent_p.L48L|SGK1_ENST00000367858.5_Silent_p.L153L|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000475719.2_Silent_p.L58L	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	58	Necessary for localization to the mitochondria.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)	p.L86F(1)|p.L153F(1)|p.L48F(1)|p.L58F(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		GGGAGATCTTCAAGATGGACT	0.498																																						ENST00000367858.5																			4	Substitution - Missense(4)	p.L86F(1)|p.L153F(1)|p.L48F(1)|p.L58F(1)	lung(4)	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46						c.(457-459)ttG>ttA		serum/glucocorticoid regulated kinase 1							136	128	130					6																	134495197		2203	4300	6503	SO:0001819	synonymous_variant	6446				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:134495197C>T	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"serum/glucocorticoid regulated kinase"	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.174G>A	6.37:g.134495197C>T						SGK1_ENST00000367857.5_Silent_p.L48L|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000237305.7_Silent_p.L58L|SGK1_ENST00000413996.3_Silent_p.L72L|SGK1_ENST00000475719.2_Silent_p.L58L|SGK1_ENST00000528577.1_Silent_p.L86L	p.L153L	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)	5	1056	-	Colorectal(23;0.221)		58			Protein kinase.		B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Silent	SNP	ENST00000237305.7	37	c.459G>A	CCDS5170.1																																																																																				0.498	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2			30	75	0	0	0	0.008361	0	30	75					T	134495197	C	T	134495197	2	4	102	1	0	0	0	0	0	0	0	1	14207	825	29	2		2	SGK1	6	134495197	Silent	SNP	C	TCGA-DJ-A2PY-01A-11D-A18F-08		134495197	36619870	5	2180											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		24	40	0	0	0	0.00278	0	24	40					T	140453136	A	T	140453136	3	4	102	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2PY-01A-11D-A18F-08		140453136	18685527	6	2181											
MYOM2	9172	broad.mit.edu	37	chr8	2046799	2046799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcaagtgtgaggcctggaCcatgccggagcccggtgagt	15	11	1	2			TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr8:2046799C>T	ENST00000262113.4	+	19	2567	c.2426C>T	c.(2425-2427)aCc>aTc	p.T809I	MYOM2_ENST00000523438.1_Missense_Mutation_p.T234I	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	809	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GAGGCCTGGACCATGCCGGAG	0.657																																						ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(2425-2427)aCc>aTc		myomesin 2							31	28	29					8																	2046799		2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2046799C>T		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2426C>T	8.37:g.2046799C>T	ENSP00000262113:p.Thr809Ile					MYOM2_ENST00000523438.1_Missense_Mutation_p.T234I	p.T809I	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	19	2567	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	809					Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.2426C>T	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.141738	0.77775	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.53206	0.63;0.63	5.14	4.26	0.50523	.	0.055645	0.64402	D	0.000001	T	0.65502	0.2697	M	0.72576	2.205	0.48395	D	0.999645	D	0.71674	0.998	D	0.66979	0.948	T	0.69771	-0.5055	10	0.87932	D	0	.	13.6013	0.62020	0.0:0.9245:0.0:0.0755	.	809	P54296	MYOM2_HUMAN	I	809;234	ENSP00000262113:T809I;ENSP00000428396:T234I	ENSP00000262113:T809I	T	+	2	0	MYOM2	2034206	1.000000	0.71417	0.825000	0.32803	0.839000	0.47603	5.397000	0.66302	1.163000	0.42636	0.561000	0.74099	ACC		0.657	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		3	18	0	0	0	0.004672	0	3	18					T	2046799	C	T	2046799	3	4	102	1	0	0	0	0	1	0	0	0	10092	507	18	2	2496	2	MYOM2	8	2046799	Missense_Mutation	SNP	C	TCGA-DJ-A2PY-01A-11D-A18F-08		2046799	144317223	7	2182											
VDAC3	7419	broad.mit.edu	37	chr8	42260882	42260882	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagaaggtgaatgagaagaTtgaaacatccataaaccttg	9	7	0	5	rs373787238		TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr8:42260882T>C	ENST00000022615.4	+	8	673	c.605T>C	c.(604-606)aTt>aCt	p.I202T	VDAC3_ENST00000522572.1_Intron|VDAC3_ENST00000521158.1_Missense_Mutation_p.I203T|VDAC3_ENST00000392935.3_Missense_Mutation_p.I203T			Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3	202					adenine transport (GO:0015853)	extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	nucleotide binding (GO:0000166)|porin activity (GO:0015288)|voltage-gated anion channel activity (GO:0008308)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	AATGAGAAGATTGAAACATCC	0.398																																						ENST00000392935.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						c.(607-609)aTt>aCt		voltage-dependent anion channel 3	Dihydroxyaluminium(DB01375)	T	THR/ILE,THR/ILE	1,4405	2.1+/-5.4	0,1,2202	198	174	182		605,608	5.7	1.0	8		182	0,8600		0,0,4300	no	missense,missense	VDAC3	NM_005662.5,NM_001135694.1	89,89	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign,benign	202/284,203/285	42260882	1,13005	2203	4300	6503	SO:0001583	missense	7419				adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity	g.chr8:42260882T>C	AF038962	CCDS6131.1, CCDS47850.1	8p11.21	2011-11-15			ENSG00000078668	ENSG00000078668		"Voltage-dependent anion channels"	12674	protein-coding gene	gene with protein product		610029				9653160, 9781040	Standard	NM_001135694		Approved	HD-VDAC3	uc003xpc.3	Q9Y277	OTTHUMG00000164168	ENST00000022615.4:c.605T>C	8.37:g.42260882T>C	ENSP00000022615:p.Ile202Thr					VDAC3_ENST00000022615.4_Missense_Mutation_p.I202T|VDAC3_ENST00000522572.1_Intron|VDAC3_ENST00000521158.1_Missense_Mutation_p.I203T	p.I203T	NM_001135694.2|NM_005662.6	NP_001129166.1|NP_005653.3	Q9Y277	VDAC3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		8	751	+	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	202					Q9UIS0	Missense_Mutation	SNP	ENST00000022615.4	37	c.608T>C	CCDS6131.1	.	.	.	.	.	.	.	.	.	.	T	18.16	3.561903	0.65538	2.27E-4	0.0	ENSG00000078668	ENST00000392935;ENST00000521158;ENST00000022615	T;T;T	0.42513	0.97;0.97;0.97	5.73	5.73	0.89815	.	0.181335	0.49916	D	0.000132	T	0.38904	0.1058	L	0.45581	1.43	0.49582	D	0.9998	B	0.27910	0.193	B	0.24701	0.055	T	0.30031	-0.9992	10	0.87932	D	0	-13.385	14.2659	0.66118	0.0:0.0:0.0:1.0	.	202	Q9Y277	VDAC3_HUMAN	T	203;203;202	ENSP00000442811:I203T;ENSP00000428845:I203T;ENSP00000022615:I202T	ENSP00000022615:I202T	I	+	2	0	VDAC3	42380039	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.234000	0.72326	2.302000	0.77476	0.533000	0.62120	ATT		0.398	VDAC3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377574.1			3	70	0	0	0	0.000248	0	3	70					C	42260882	T	C	42260882	3	2	102	1	0	0	0	0	1	0	0	0	17145	1493	52	3	630	3	VDAC3	8	42260882	Missense_Mutation	SNP	T	TCGA-DJ-A2PY-01A-11D-A18F-08	40214083	42260882	104103140	8	2183											
TG	7038	broad.mit.edu	37	chr8	133895156	133895156	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcgactatcaggcggtgcaGtgccagacggaagggccctg	17	11	1	1			TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr8:133895156G>T	ENST00000220616.4	+	8	1027	c.987G>T	c.(985-987)caG>caT	p.Q329H	TG_ENST00000377869.1_Missense_Mutation_p.Q329H	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	329	Thyroglobulin type-1 4. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGGCGGTGCAGTGCCAGACGG	0.597																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(985-987)caG>caT		thyroglobulin							49	48	48					8																	133895156		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133895156G>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.987G>T	8.37:g.133895156G>T	ENSP00000220616:p.Gln329His					TG_ENST00000377869.1_Missense_Mutation_p.Q329H	p.Q329H	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	8	1027	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	329			Thyroglobulin type-1 4.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.987G>T	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.621194	0.66787	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	D;D	0.81739	-1.53;-1.53	5.49	3.66	0.41972	Thyroglobulin type-1 (6);	0.000000	0.64402	D	0.000018	D	0.92681	0.7674	H	0.98199	4.17	0.37117	D	0.900623	D	0.89917	1.0	D	0.91635	0.999	D	0.94971	0.8117	10	0.87932	D	0	.	11.5639	0.50794	0.1322:0.0:0.8678:0.0	.	329	P01266	THYG_HUMAN	H	329	ENSP00000367100:Q329H;ENSP00000220616:Q329H	ENSP00000220616:Q329H	Q	+	3	2	TG	133964338	1.000000	0.71417	1.000000	0.80357	0.498000	0.33706	2.767000	0.47637	2.570000	0.86706	0.563000	0.77884	CAG		0.597	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		3	39	1	0	0.00024832	0.000248	0.000507927	3	39					T	133895156	G	T	133895156	3	4	102	1	0	0	0	0	1	0	0	0	15810	1020	36	4	1017	4	TG	8	133895156	Missense_Mutation	SNP	G	TCGA-DJ-A2PY-01A-11D-A18F-08	91634274	133895156	12468866	9	2184											
ST6GALNAC4	27090	broad.mit.edu	37	chr9	130672244	130672244	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgacctgcagtagctgtcGctgaccatcccatagaccac	8	15	1	3	rs188342632		TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr9:130672244G>A	ENST00000335791.5	-	5	980	c.705C>T	c.(703-705)agC>agT	p.S235S	ST6GALNAC4_ENST00000495983.1_5'UTR|ST6GALNAC4_ENST00000343609.2_Silent_p.S151S	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4	235					cellular protein metabolic process (GO:0044267)|glycolipid metabolic process (GO:0006664)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity (GO:0047290)|sialyltransferase activity (GO:0008373)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						AGTAGCTGTCGCTGACCATCC	0.647													G|||	1	0.000199681	0	0	5008	,	,		14842	0.001		0	False		,,,				2504	0					ENST00000335791.5																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						c.(703-705)agC>agT		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4							45	40	42					9																	130672244		2203	4299	6502	SO:0001819	synonymous_variant	27090				glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity	g.chr9:130672244G>A	AB035172	CCDS6883.1	9q34	2013-03-01	2005-02-07	2005-02-07	ENSG00000136840	ENSG00000136840	2.4.99.7	"Sialyltransferases"	17846	protein-coding gene	gene with protein product		606378	"sialyltransferase 7D ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)"	SIAT7D		10207017, 11062056	Standard	XM_005251922		Approved	ST6GALNACIV, SIAT3C	uc004bss.3	Q9H4F1	OTTHUMG00000020724	ENST00000335791.5:c.705C>T	9.37:g.130672244G>A						ST6GALNAC4_ENST00000495983.1_5'UTR|ST6GALNAC4_ENST00000343609.2_Silent_p.S151S	p.S235S	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN			5	980	-			235					Q5T9D0|Q9NWU6|Q9UKU1|Q9ULB9|Q9Y3G3|Q9Y3G4	Silent	SNP	ENST00000335791.5	37	c.705C>T	CCDS6883.1																																																																																				0.647	ST6GALNAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054317.2	NM_175040		20	21	0	0	0	0.001882	0	20	21					A	130672244	G	A	130672244	2	1	102	1	0	0	0	0	0	0	0	1	15225	1078	38	1		1	ST6GALNAC4	9	130672244	Silent	SNP	G	TCGA-DJ-A2PY-01A-11D-A18F-08		130672244	10541187	10	2185											
ITGA8	8516	broad.mit.edu	37	chr10	15655757	15655757	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggcatctacagtcacaacCggtcttgctctgcggggaga	13	11	4	1	rs200613964	byFrequency	TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr10:15655757C>A	ENST00000378076.3	-	15	1808	c.1455G>T	c.(1453-1455)ccG>ccT	p.P485P		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	485					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CAGTCACAACCGGTCTTGCTC	0.463																																						ENST00000378076.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						c.(1453-1455)ccG>ccT		integrin, alpha 8							94	96	95					10																	15655757		2203	4300	6503	SO:0001819	synonymous_variant	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15655757C>A	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1455G>T	10.37:g.15655757C>A							p.P485P	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN			15	1808	-			485					B0YJ31|Q5VX94	Silent	SNP	ENST00000378076.3	37	c.1455G>T	CCDS31155.1																																																																																				0.463	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		25	50	1	0	0.000375601	0.00278	0.000734871	25	50					A	15655757	C	A	15655757	2	1	102	1	0	0	0	0	0	0	0	1	7882	639	23	4		4	ITGA8	10	15655757	Silent	SNP	C	TCGA-DJ-A2PY-01A-11D-A18F-08		15655757	119878990	11	2186											
GANAB	23193	broad.mit.edu	37	chr11	62400170	62400170	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggccattgggttgtacagcTcatactggaacacatccaaa	9	10	1	0			TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr11:62400170T>C	ENST00000356638.3	-	9	879	c.863A>G	c.(862-864)gAg>gGg	p.E288G	GANAB_ENST00000534779.1_Missense_Mutation_p.E196G|GANAB_ENST00000540933.1_Missense_Mutation_p.E191G|GANAB_ENST00000534422.1_5'Flank|GANAB_ENST00000346178.4_Missense_Mutation_p.E310G	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	288					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	GTTGTACAGCTCATACTGGAA	0.552																																					Melanoma(23;1005 1074 15747 18937)	ENST00000346178.4																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						c.(928-930)gAg>gGg		glucosidase, alpha; neutral AB							217	205	209					11																	62400170		2202	4299	6501	SO:0001583	missense	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62400170T>C	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.863A>G	11.37:g.62400170T>C	ENSP00000349053:p.Glu288Gly					GANAB_ENST00000540933.1_Missense_Mutation_p.E191G|GANAB_ENST00000534779.1_Missense_Mutation_p.E196G|GANAB_ENST00000356638.3_Missense_Mutation_p.E288G	p.E310G	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN			10	944	-			288					A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	37	c.929A>G	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.708938	0.89018	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83	5.19	5.19	0.71726	Glycoside hydrolase-type carbohydrate-binding (1);	0.055923	0.64402	D	0.000001	D	0.90034	0.6888	M	0.64080	1.96	0.58432	D	0.999999	D;D;P;B	0.53151	0.958;0.958;0.566;0.182	D;P;B;B	0.64877	0.93;0.876;0.285;0.124	D	0.90941	0.4797	10	0.87932	D	0	-29.607	13.0449	0.58920	0.0:0.0:0.0:1.0	.	174;196;288;310	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	G	310;288;196;191	ENSP00000340466:E310G;ENSP00000349053:E288G;ENSP00000435306:E196G;ENSP00000442962:E191G	ENSP00000340466:E310G	E	-	2	0	GANAB	62156746	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.828000	0.86729	2.184000	0.69523	0.374000	0.22700	GAG		0.552	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		3	208	0	0	0	0.004672	0	3	208					C	62400170	T	C	62400170	3	2	102	1	0	0	0	0	1	0	0	0	6233	1551	54	3	2035	3	GANAB	11	62400170	Missense_Mutation	SNP	T	TCGA-DJ-A2PY-01A-11D-A18F-08		62400170	72606346	12	2187											
CNGB1	1258	broad.mit.edu	37	chr16	57921841	57921841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggaggtgagcaagtttgCcgccttttgcccccttgcca	11	15	0	1			TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr16:57921841C>T	ENST00000251102.8	-	32	3440	c.3380G>A	c.(3379-3381)gGc>gAc	p.G1127D	CNGB1_ENST00000564448.1_Missense_Mutation_p.G1121D	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1127					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.G1127D(1)		breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						AGCAAGTTTGCCGCCTTTTGC	0.612																																					Colon(156;1293 1853 16336 28962 38659)	ENST00000564448.1																			1	Substitution - Missense(1)	p.G1127D(1)	cervix(1)	breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(3361-3363)gGc>gAc		cyclic nucleotide gated channel beta 1							93	99	97					16																	57921841		1945	4139	6084	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57921841C>T	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2151	protein-coding gene	gene with protein product	"glutamic acid-rich protein"	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.3380G>A	16.37:g.57921841C>T	ENSP00000251102:p.Gly1127Asp					CNGB1_ENST00000251102.8_Missense_Mutation_p.G1127D	p.G1121D			Q14028	CNGB1_HUMAN			32	3422	-			1127					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.3362G>A	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745368	0.49151	.	.	ENSG00000070729	ENST00000251102	D	0.96940	-4.18	5.46	5.46	0.80206	.	0.169139	0.37053	N	0.002266	D	0.97216	0.9090	M	0.63428	1.95	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69479	0.964;0.922	D	0.96877	0.9643	10	0.51188	T	0.08	.	13.0314	0.58845	0.0:0.7343:0.2657:0.0	.	499;1127	Q14028-2;Q14028	.;CNGB1_HUMAN	D	1127	ENSP00000251102:G1127D	ENSP00000251102:G1127D	G	-	2	0	CNGB1	56479342	0.998000	0.40836	1.000000	0.80357	0.143000	0.21401	1.960000	0.40422	2.567000	0.86603	0.563000	0.77884	GGC		0.612	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		4	142	0	0	0	0.000248	0	4	142					T	57921841	C	T	57921841	3	4	102	1	0	0	0	0	1	0	0	0	3600	739	26	2	383	2	CNGB1	16	57921841	Missense_Mutation	SNP	C	TCGA-DJ-A2PY-01A-11D-A18F-08		57921841	32432912	13	2188											
SRR	63826	broad.mit.edu	37	chr17	2224836	2224836	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtttatattttcactaaagGttcctttggtggatgcactg	9	6	1	0	rs147900333		TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr17:2224836G>T	ENST00000344595.5	+	6	838	c.520G>T	c.(520-522)Gtt>Ttt	p.V174F	SRR_ENST00000576848.1_Intron	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	174					aging (GO:0007568)|brain development (GO:0007420)|D-serine biosynthetic process (GO:0070179)|D-serine metabolic process (GO:0070178)|L-serine metabolic process (GO:0006563)|protein homotetramerization (GO:0051289)|pyruvate biosynthetic process (GO:0042866)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|serine family amino acid metabolic process (GO:0009069)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|D-serine ammonia-lyase activity (GO:0008721)|glycine binding (GO:0016594)|L-serine ammonia-lyase activity (GO:0003941)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|serine racemase activity (GO:0030378)|threonine racemase activity (GO:0018114)			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)	TTCACTAAAGGTTCCTTTGGT	0.388																																						ENST00000344595.5																			0				NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.e6-1		serine racemase	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	G	PHE/VAL	0,4406		0,0,2203	88	87	87		520	3.9	1.0	17	dbSNP_134	87	1,8599		0,1,4299	no	missense-near-splice	SRR	NM_021947.1	50	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging	174/341	2224836	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	63826				D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity	g.chr17:2224836G>T	AF169974	CCDS11017.1	17p13	2007-01-18			ENSG00000167720	ENSG00000167720			14398	protein-coding gene	gene with protein product		606477				17067558, 15953485, 15193426	Standard	NM_021947		Approved	ILV1, ISO1	uc002fue.1	Q9GZT4	OTTHUMG00000090583	ENST00000344595.5:c.520-1G>T	17.37:g.2224836G>T						SRR_ENST00000576848.1_Intron	p.V174_splice	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	6	838	+		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	174					D3DTI5|Q6IA55	Splice_Site	SNP	ENST00000344595.5	37	c.519_splice	CCDS11017.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.959640	0.53400	0.0	1.16E-4	ENSG00000167720	ENST00000344595	D	0.96802	-4.13	5.86	3.88	0.44766	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.256963	0.38164	N	0.001798	D	0.96312	0.8797	M	0.85777	2.775	0.80722	D	1	P	0.39181	0.663	B	0.43225	0.412	D	0.94701	0.7883	9	.	.	.	.	11.6752	0.51425	0.1422:0.0:0.8578:0.0	.	174	Q9GZT4	SRR_HUMAN	F	174	ENSP00000339435:V174F	.	V	+	1	0	SRR	2171586	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.614000	0.54160	0.817000	0.34445	0.563000	0.77884	GTT		0.388	SRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207129.2	NM_021947	Missense_Mutation	24	37	1	0	4.26978e-12	0.00333	9.14952e-12	24	37					T	2224836	G	T	2224836	5	4	102	1	0	0	0	0	0	0	1	0	15165	1275	44	4	538	4	SRR	17	2224836	Splice_Site	SNP	G	TCGA-DJ-A2PY-01A-11D-A18F-08		2224836	78970374	14	2189											
ARHGAP33	115703	broad.mit.edu	37	chr19	36276206	36276224	+	Frame_Shift_Del	DEL	GGGGGCACCCGTGCCCCAC	GGGGGCACCCGTGCCCCAC	-													agaagcccctgccctggctgGggggcacccgtgccccaccg					rs145114644		TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr19:36276206_36276224delGGGGGCACCCGTGCCCCAC	ENST00000007510.4	+	18	1981_1999	c.1837_1855delGGGGGCACCCGTGCCCCAC	c.(1837-1857)gggggcacccgtgccccaccgfs	p.GGTRAPP613fs	ARHGAP33_ENST00000378944.5_Frame_Shift_Del_p.GGTRAPP477fs|ARHGAP33_ENST00000314737.5_Frame_Shift_Del_p.GGTRAPP613fs			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	613					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)	p.T615T(1)		endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GCCCTGGCTGGGGGGCACCCGTGCCCCACCGCAGCCTTC	0.685																																						ENST00000007510.4																			1	Substitution - coding silent(1)	p.T615T(1)	pancreas(1)	endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(1837-1857)cgfs		Rho GTPase activating protein 33																																				SO:0001589	frameshift_variant	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36276206_36276224delGGGGGCACCCGTGCCCCAC	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"Rho GTPase activating proteins"	23085	protein-coding gene	gene with protein product		614902	"sorting nexin 26"	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.1837_1855delGGGGGCACCCGTGCCCCAC	19.37:g.36276206_36276224delGGGGGCACCCGTGCCCCAC	ENSP00000007510:p.Gly613fs					ARHGAP33_ENST00000378944.5_Frame_Shift_Del_p.GGTRAPP477fs|ARHGAP33_ENST00000314737.5_Frame_Shift_Del_p.GGTRAPP613fs	p.GGTRAPP613fs			O14559	RHG33_HUMAN			18	1981_1999	+			613					O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Frame_Shift_Del	DEL	ENST00000007510.4	37	c.1837_1855delGGGGGCACCCGTGCCCCAC																																																																																					0.685	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		14	37						14	37	---	---	---	---	-	36276224	GGGGGCACCCGTGCCCCAC	-	36276206	7	5	102	1	0	1	0	1	0	0	0	0	882	1232	43	0	1907	0	ARHGAP33	19	36276206	Frame_Shift_Del	DEL	GGGGGCACCCGTGCCCCAC	TCGA-DJ-A2PY-01A-11D-A18F-08		36276206	22852777	15	2190											
FAM98C	147965	broad.mit.edu	37	chr19	38895653	38895653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggtagtggagggagccgGcatggtccaagaactggacc	18	8	0	1			TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr19:38895653G>A	ENST00000252530.5	+	4	474	c.455G>A	c.(454-456)gGc>gAc	p.G152D	FAM98C_ENST00000588262.1_Intron|FAM98C_ENST00000343358.7_Missense_Mutation_p.G152D|FAM98C_ENST00000585954.1_3'UTR	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	152										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GAGGGAGCCGGCATGGTCCAA	0.652																																						ENST00000252530.5																			0				endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(454-456)gGc>gAc		family with sequence similarity 98, member C							84	93	90					19																	38895653		2025	4185	6210	SO:0001583	missense	147965							g.chr19:38895653G>A		CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.455G>A	19.37:g.38895653G>A	ENSP00000252530:p.Gly152Asp					FAM98C_ENST00000585954.1_3'UTR|FAM98C_ENST00000588262.1_Intron|FAM98C_ENST00000343358.7_Missense_Mutation_p.G152D	p.G152D	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		4	474	+	all_cancers(60;3.95e-06)		152					A6NMW3|Q66K45	Missense_Mutation	SNP	ENST00000252530.5	37	c.455G>A	CCDS42562.1	.	.	.	.	.	.	.	.	.	.	G	0.798	-0.756545	0.03019	.	.	ENSG00000130244	ENST00000252530;ENST00000343358	T;T	0.40225	1.04;1.04	4.42	-1.9	0.07665	.	0.697751	0.12508	N	0.462674	T	0.17916	0.0430	N	0.11789	0.175	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.09377	0.001;0.004	T	0.19095	-1.0316	10	0.20046	T	0.44	-3.6726	3.8987	0.09150	0.3704:0.0:0.4709:0.1587	.	152;152	Q17RN3-2;Q17RN3	.;FA98C_HUMAN	D	152	ENSP00000252530:G152D;ENSP00000340348:G152D	ENSP00000252530:G152D	G	+	2	0	FAM98C	43587493	0.036000	0.19791	0.007000	0.13788	0.118000	0.20060	0.042000	0.13949	-0.274000	0.09232	0.558000	0.71614	GGC		0.652	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1	NM_174905		4	117	0	0	0	0.000248	0	4	117					A	38895653	G	A	38895653	3	1	102	1	0	0	0	0	1	0	0	0	5658	1203	42	2	469	2	FAM98C	19	38895653	Missense_Mutation	SNP	G	TCGA-DJ-A2PY-01A-11D-A18F-08	2619447	38895653	20233330	16	2191											
NDUFA6	4700	broad.mit.edu	37	chr22	42482290	42482293	+	Frame_Shift_Del	DEL	TTAA	TTAA	-													gtgtccgctgcttccatactTtaattgtttcttccagttcg							TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr22:42482290_42482293delTTAA	ENST00000498737.2	-	3	491_494	c.359_362delTTAA	c.(358-363)attaaafs	p.IK120fs	NDUFA6_ENST00000470753.1_Frame_Shift_Del_p.IK37fs|NDUFA6_ENST00000602404.1_Frame_Shift_Del_p.IK94fs	NM_002490.3	NP_002481.2	P56556	NDUA6_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa	120					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 membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5						CTTCCATACTTTAATTGTTTCTTC	0.451																																						ENST00000498737.2																			0				kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5						c.(358-363)aafs		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa	NADH(DB00157)																																			SO:0001589	frameshift_variant	4700				mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr22:42482290_42482293delTTAA	AF047182	CCDS33656.1	22q13.2	2010-05-07	2002-08-29		ENSG00000184983	ENSG00000184983		"LYR motif containing", "Mitochondrial respiratory chain complex / Complex I"	7690	protein-coding gene	gene with protein product	"complex I B14 subunit"	602138	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6 (14kD, B14)"			9763676, 9425316	Standard	NM_002490		Approved	B14, LYRM6, CI-B14, NADHB14	uc003bcb.3	P56556	OTTHUMG00000151287	ENST00000498737.2:c.359_362delTTAA	22.37:g.42482290_42482293delTTAA	ENSP00000418842:p.Ile120fs					NDUFA6_ENST00000470753.1_Frame_Shift_Del_p.IK37fs|NDUFA6_ENST00000602404.1_Frame_Shift_Del_p.IK94fs|SMDT1_ENST00000547929.1_Intron	p.IK120fs	NM_002490.3	NP_002481.2	P56556	NDUA6_HUMAN			3	491_494	-			120					B2RE54|O43675|Q6FGW0|Q6IBT8|Q6IC39	Frame_Shift_Del	DEL	ENST00000498737.2	37	c.359_362delTTAA	CCDS33656.1																																																																																				0.451	NDUFA6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322089.4	NM_002490		23	34						23	34	---	---	---	---	-	42482293	TTAA	-	42482290	7	5	102	1	0	1	0	1	0	0	0	0	10269	1841	64	0	106	0	NDUFA6	22	42482290	Frame_Shift_Del	DEL	TTAA	TCGA-DJ-A2PY-01A-11D-A18F-08		42482290	8822276	17	2192											
ARMCX2	9823	broad.mit.edu	37	chrX	100911291	100911291	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgcaataattgggaggccTcccaatttgcggattgtctc	10	9	1	0			TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chrX:100911291T>C	ENST00000328766.5	-	5	1737	c.1284A>G	c.(1282-1284)ggA>ggG	p.G428G	ARMCX2_ENST00000330154.2_Silent_p.G428G|ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000356824.4_Silent_p.G428G	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	428						integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						TTGGGAGGCCTCCCAATTTGC	0.388																																						ENST00000328766.5																			0				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						c.(1282-1284)ggA>ggG		armadillo repeat containing, X-linked 2							137	122	127					X																	100911291		2203	4300	6503	SO:0001819	synonymous_variant	9823					integral to membrane	binding	g.chrX:100911291T>C	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"Armadillo repeat containing"	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.1284A>G	X.37:g.100911291T>C						ARMCX2_ENST00000356824.4_Silent_p.G428G|ARMCX2_ENST00000330154.2_Silent_p.G428G	p.G428G	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN			5	1737	-			428					O60267|Q5H9D9	Silent	SNP	ENST00000328766.5	37	c.1284A>G	CCDS14490.1																																																																																				0.388	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		3	134	0	0	0	0.004672	0	3	134					C	100911291	T	C	100911291	2	2	102	1	0	0	0	0	0	0	0	1	960	1538	54	3		3	ARMCX2	23	100911291	Silent	SNP	T	TCGA-DJ-A2PY-01A-11D-A18F-08		100911291	54359269	18	2193											
GUCA2B	2981	broad.mit.edu	37	chr1	42620417	42620417	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctggaggcacagtgggcaCccagcccccgcctgcaggcc	13	18	0	0			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr1:42620417C>A	ENST00000372581.1	+	2	187	c.157C>A	c.(157-159)Ccc>Acc	p.P53T		NM_007102.2	NP_009033.1	Q16661	GUC2B_HUMAN	guanylate cyclase activator 2B (uroguanylin)	53					body fluid secretion (GO:0007589)|cGMP biosynthetic process (GO:0006182)|excretion (GO:0007588)|negative regulation of blood pressure (GO:0045776)|positive regulation of guanylate cyclase activity (GO:0031284)	extracellular vesicular exosome (GO:0070062)	calcium sensitive guanylate cyclase activator activity (GO:0008048)			breast(1)|large_intestine(2)	3	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACAGTGGGCACCCAGCCCCCG	0.647																																						ENST00000372581.1																			0				breast(1)|large_intestine(2)	3						c.(157-159)Ccc>Acc		guanylate cyclase activator 2B (uroguanylin)							45	47	47					1																	42620417		2203	4300	6503	SO:0001583	missense	2981				excretion	extracellular region	calcium sensitive guanylate cyclase activator activity	g.chr1:42620417C>A	BC069301	CCDS464.1	1p34-p33	2014-01-30			ENSG00000044012	ENSG00000044012		"Endogenous ligands"	4683	protein-coding gene	gene with protein product	"prepro-uroguanylin"	601271				8605041, 9268639	Standard	NM_007102		Approved		uc001chc.1	Q16661	OTTHUMG00000007024	ENST00000372581.1:c.157C>A	1.37:g.42620417C>A	ENSP00000361662:p.Pro53Thr						p.P53T	NM_007102.2	NP_009033.1	Q16661	GUC2B_HUMAN			2	187	+	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	53					Q52LV0	Missense_Mutation	SNP	ENST00000372581.1	37	c.157C>A	CCDS464.1	.	.	.	.	.	.	.	.	.	.	C	7.001	0.554967	0.13436	.	.	ENSG00000044012	ENST00000372581	T	0.42513	0.97	4.78	-0.559	0.11792	.	1.516060	0.03689	N	0.246748	T	0.38506	0.1043	L	0.55743	1.74	0.09310	N	1	B	0.14012	0.009	B	0.16289	0.015	T	0.23119	-1.0197	10	0.29301	T	0.29	-3.1305	7.9929	0.30250	0.0:0.4685:0.0:0.5315	.	53	Q16661	GUC2B_HUMAN	T	53	ENSP00000361662:P53T	ENSP00000361662:P53T	P	+	1	0	GUCA2B	42393004	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	0.004000	0.13106	-0.005000	0.14395	-0.192000	0.12808	CCC		0.647	GUCA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018307.1	NM_007102		16	34	1	0	9.16793e-09	0.0333	1.83359e-08	16	34					A	42620417	C	A	42620417	3	1	103	1	0	0	0	0	1	0	0	0	6892	507	18	4	163	4	GUCA2B	1	42620417	Missense_Mutation	SNP	C	TCGA-DJ-A2PZ-01A-21D-A18F-08		42620417	206630204	1	2194											
HIST2H2AC	8338	broad.mit.edu	37	chr1	149858710	149858710	+	Frame_Shift_Del	DEL	G	G	-													ctcgagtacctgaccgccgaGatcctggagctggcgggcaa							TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr1:149858710delG	ENST00000331380.2	+	1	186	c.186delG	c.(184-186)gagfs	p.E62fs	BOLA1_ENST00000369153.2_5'Flank|HIST2H2BE_ENST00000369155.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	62						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)			TGACCGCCGAGATCCTGGAGC	0.672																																						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.(184-186)gafs		histone cluster 2, H2ac							44	48	47					1																	149858710		2203	4300	6503	SO:0001589	frameshift_variant	8338				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149858710delG	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.186delG	1.37:g.149858710delG	ENSP00000332194:p.Glu62fs						p.E62fs	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	186	+	Breast(34;0.0124)|all_hematologic(923;0.127)		62					Q6DRA7|Q8IUE5	Frame_Shift_Del	DEL	ENST00000331380.2	37	c.186delG	CCDS937.1																																																																																				0.672	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1	NM_003517		37	63						37	63	---	---	---	---	-	149858710	G	-	149858710	7	5	103	1	0	1	0	1	0	0	0	0	7178	933	33	0	188	0	HIST2H2AC	1	149858710	Frame_Shift_Del	DEL	G	TCGA-DJ-A2PZ-01A-21D-A18F-08	107238293	149858710	99391911	2	2195											
SYT11	23208	broad.mit.edu	37	chr1	155838393	155838393	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctggaccctgtgtttgaCgagaccttcaccttctatgg	9	13	2	2			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr1:155838393C>T	ENST00000368324.4	+	2	925	c.672C>T	c.(670-672)gaC>gaT	p.D224D	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	224	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			CTGTGTTTGACGAGACCTTCA	0.557																																						ENST00000368324.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(670-672)gaC>gaT		synaptotagmin XI							105	84	91					1																	155838393		2203	4300	6503	SO:0001819	synonymous_variant	23208					cell junction|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:155838393C>T	D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"Synaptotagmins"	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.672C>T	1.37:g.155838393C>T						SYT11_ENST00000539162.1_Intron	p.D224D	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000162)		2	925	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		224			C2 1.		Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Silent	SNP	ENST00000368324.4	37	c.672C>T	CCDS1122.1																																																																																				0.557	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1	NM_152280		19	44	0	0	0	0.038395	0	19	44					T	155838393	C	T	155838393	2	4	103	1	0	0	0	0	0	0	0	1	15464	535	19	1		1	SYT11	1	155838393	Silent	SNP	C	TCGA-DJ-A2PZ-01A-21D-A18F-08	5979683	155838393	93412228	3	2196											
SIPA1L2	57568	broad.mit.edu	37	chr1	232629364	232629364	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctccggatgctgactgctActggaccaaggttttcatct	9	12	3	1			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr1:232629364A>G	ENST00000366630.1	-	3	1884	c.1526T>C	c.(1525-1527)gTa>gCa	p.V509A	SIPA1L2_ENST00000486472.1_5'UTR|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.V509A			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	509					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GCTGACTGCTACTGGACCAAG	0.458																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(1525-1527)gTa>gCa		signal-induced proliferation-associated 1 like 2							234	233	233					1																	232629364		1942	4148	6090	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232629364A>G	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1526T>C	1.37:g.232629364A>G	ENSP00000355589:p.Val509Ala					SIPA1L2_ENST00000262861.4_Missense_Mutation_p.V509A|SIPA1L2_ENST00000486472.1_5'UTR	p.V509A			Q9P2F8	SI1L2_HUMAN			3	1884	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	509					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.1526T>C	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.916630	0.92249	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.72942	-0.7;-0.7	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.85217	0.5646	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87444	0.2397	10	0.87932	D	0	-30.456	15.8615	0.79026	1.0:0.0:0.0:0.0	.	509	Q9P2F8	SI1L2_HUMAN	A	509	ENSP00000355589:V509A;ENSP00000262861:V509A	ENSP00000262861:V509A	V	-	2	0	SIPA1L2	230695987	1.000000	0.71417	0.998000	0.56505	0.917000	0.54804	9.131000	0.94446	2.333000	0.79357	0.533000	0.62120	GTA		0.458	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		5	304	0	0	0	0.014758	0	5	304					G	232629364	A	G	232629364	3	3	103	1	0	0	0	0	1	0	0	0	14330	391	14	3	3722	3	SIPA1L2	1	232629364	Missense_Mutation	SNP	A	TCGA-DJ-A2PZ-01A-21D-A18F-08	76790971	232629364	16621257	4	2197											
DNAJB11	51726	broad.mit.edu	37	chr3	186299235	186299235	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcggcaagagatgcggaccAcccagctgggccctgggcgc	16	14	0	1			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr3:186299235A>G	ENST00000439351.1	+	6	1461	c.532A>G	c.(532-534)Acc>Gcc	p.T178A	DNAJB11_ENST00000265028.3_Missense_Mutation_p.T178A			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	178					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|mRNA modification (GO:0016556)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		GATGCGGACCACCCAGCTGGG	0.517																																						ENST00000439351.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15						c.(532-534)Acc>Gcc		DnaJ (Hsp40) homolog, subfamily B, member 11							90	89	89					3																	186299235		2203	4300	6503	SO:0001583	missense	51726				protein folding	endoplasmic reticulum lumen	heat shock protein binding	g.chr3:186299235A>G	AB028859	CCDS3277.1	3q27	2011-09-02			ENSG00000090520	ENSG00000090520		"Heat shock proteins / DNAJ (HSP40)"	14889	protein-coding gene	gene with protein product		611341				10827079, 11147971	Standard	NM_016306		Approved	EDJ, HEDJ, ERdj3	uc003fqi.3	Q9UBS4	OTTHUMG00000156614	ENST00000439351.1:c.532A>G	3.37:g.186299235A>G	ENSP00000414398:p.Thr178Ala					DNAJB11_ENST00000265028.3_Missense_Mutation_p.T178A	p.T178A			Q9UBS4	DJB11_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)	6	1461	+	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		178					Q542Y5|Q542Y9|Q6IAQ8|Q96JC6	Missense_Mutation	SNP	ENST00000439351.1	37	c.532A>G	CCDS3277.1	.	.	.	.	.	.	.	.	.	.	A	19.55	3.848335	0.71603	.	.	ENSG00000090520	ENST00000439351;ENST00000265028	T;T	0.68181	-0.31;-0.31	5.85	5.85	0.93711	HSP40/DnaJ peptide-binding (1);	0.000000	0.85682	D	0.000000	T	0.57799	0.2078	L	0.41356	1.27	0.80722	D	1	B	0.22211	0.066	B	0.22753	0.041	T	0.53337	-0.8453	10	0.23302	T	0.38	-15.6416	14.1896	0.65630	1.0:0.0:0.0:0.0	.	178	Q9UBS4	DJB11_HUMAN	A	178	ENSP00000414398:T178A;ENSP00000265028:T178A	ENSP00000265028:T178A	T	+	1	0	DNAJB11	187781929	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.222000	0.72286	0.533000	0.62120	ACC		0.517	DNAJB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344779.1			33	65	0	0	0	0.074837	0	33	65					G	186299235	A	G	186299235	3	3	103	1	0	0	0	0	1	0	0	0	4616	159	6	3	550	3	DNAJB11	3	186299235	Missense_Mutation	SNP	A	TCGA-DJ-A2PZ-01A-21D-A18F-08		186299235	11723195	5	2198											
ANKS1A	23294	broad.mit.edu	37	chr6	34985386	34985386	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caggaccctttccagctgctCtgtaccgctggccagagcca	10	16	1	1			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr6:34985386C>T	ENST00000360359.3	+	11	1698	c.1560C>T	c.(1558-1560)ctC>ctT	p.L520L	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	520					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TCCAGCTGCTCTGTACCGCTG	0.692																																						ENST00000360359.3																			0				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1558-1560)ctC>ctT		ankyrin repeat and sterile alpha motif domain containing 1A							30	34	33					6																	34985386		2202	4297	6499	SO:0001819	synonymous_variant	23294					cytoplasm	protein binding	g.chr6:34985386C>T	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20961	protein-coding gene	gene with protein product		608994	"ankyrin repeat and SAM domain containing 1", "ankyrin repeat and sterile alpha motif domain containing 1"	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.1560C>T	6.37:g.34985386C>T						ANKS1A_ENST00000535627.1_Intron	p.L520L	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN			11	1698	+			520					A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Silent	SNP	ENST00000360359.3	37	c.1560C>T	CCDS4798.1																																																																																				0.692	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		7	35	0	0	0	0.038147	0	7	35					T	34985386	C	T	34985386	2	4	103	1	0	0	0	0	0	0	0	1	688	900	32	2		2	ANKS1A	6	34985386	Silent	SNP	C	TCGA-DJ-A2PZ-01A-21D-A18F-08		34985386	136129681	6	2199											
HBS1L	10767	broad.mit.edu	37	chr6	135314952	135314952	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttatggcctggagcatccaTtaatgtaataactttggttg	9	7	0	0			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr6:135314952T>C	ENST00000367837.5	-	8	1233	c.1027A>G	c.(1027-1029)Atg>Gtg	p.M343V	HBS1L_ENST00000445176.2_Missense_Mutation_p.M67V|HBS1L_ENST00000367824.4_Missense_Mutation_p.M179V|HBS1L_ENST00000415177.2_Missense_Mutation_p.M278V|HBS1L_ENST00000527578.1_Missense_Mutation_p.M179V|HBS1L_ENST00000367826.2_Missense_Mutation_p.M301V	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	343	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		GGAGCATCCATTAATGTAATA	0.373																																						ENST00000367837.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20						c.(1027-1029)Atg>Gtg		HBS1-like (S. cerevisiae)							151	134	140					6																	135314952		2203	4300	6503	SO:0001583	missense	10767				signal transduction		GTP binding|GTPase activity|translation elongation factor activity	g.chr6:135314952T>C	U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"eRF3 family member"	612450	"HBS1 (S. cerevisiae)-like", "HBS1-like (S. cerevisiae)"			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.1027A>G	6.37:g.135314952T>C	ENSP00000356811:p.Met343Val					HBS1L_ENST00000527578.1_Missense_Mutation_p.M179V|HBS1L_ENST00000415177.2_Missense_Mutation_p.M278V|HBS1L_ENST00000367824.4_Missense_Mutation_p.M179V|HBS1L_ENST00000367826.2_Missense_Mutation_p.M301V|HBS1L_ENST00000445176.2_Missense_Mutation_p.M67V	p.M343V	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)	8	1233	-	Colorectal(23;0.221)		343					B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	ENST00000367837.5	37	c.1027A>G	CCDS5173.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.730127	0.89390	.	.	ENSG00000112339	ENST00000367837;ENST00000527578;ENST00000415177;ENST00000367826;ENST00000367824;ENST00000533274;ENST00000445176;ENST00000529641	T;T;T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	6.07	6.07	0.98685	Protein synthesis factor, GTP-binding (2);	0.000000	0.85682	D	0.000000	T	0.36358	0.0964	N	0.01081	-1.03	0.80722	D	1	P;P	0.48764	0.915;0.883	P;P	0.53102	0.596;0.718	T	0.65010	-0.6272	10	0.72032	D	0.01	-31.7414	16.6407	0.85098	0.0:0.0:0.0:1.0	.	301;343	Q9Y450-4;Q9Y450	.;HBS1L_HUMAN	V	343;179;278;301;179;213;67;179	ENSP00000356811:M343V;ENSP00000436256:M179V;ENSP00000389826:M278V;ENSP00000356800:M301V;ENSP00000356798:M179V;ENSP00000434533:M213V;ENSP00000415305:M67V;ENSP00000436620:M179V	ENSP00000356798:M179V	M	-	1	0	HBS1L	135356645	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.326000	0.78906	0.533000	0.62120	ATG		0.373	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2			4	34	0	0	0	0.009096	0	4	34					C	135314952	T	C	135314952	3	2	103	1	0	0	0	0	1	0	0	0	6987	1493	52	3	1071	3	HBS1L	6	135314952	Missense_Mutation	SNP	T	TCGA-DJ-A2PZ-01A-21D-A18F-08	100329566	135314952	35800115	7	2200											
CDK13	8621	broad.mit.edu	37	chr7	40027812	40027812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcacctctacattaccacCgttacctttgcctcccatgc	4	17	2	0	rs200341630		TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr7:40027812C>T	ENST00000181839.4	+	2	2431	c.1826C>T	c.(1825-1827)cCg>cTg	p.P609L	CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Missense_Mutation_p.P609L	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	609					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						ACATTACCACCGTTACCTTTG	0.393																																						ENST00000181839.4																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						c.(1825-1827)cCg>cTg		cyclin-dependent kinase 13							103	83	90					7																	40027812		2203	4300	6503	SO:0001583	missense	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40027812C>T	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"Cyclin-dependent kinases"	1733	protein-coding gene	gene with protein product	"cholinesterase-related cell division controller"	603309	"cell division cycle 2-like 5 (cholinesterase-related cell division controller)"	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.1826C>T	7.37:g.40027812C>T	ENSP00000181839:p.Pro609Leu					CDK13_ENST00000340829.5_Missense_Mutation_p.P609L|CDK13_ENST00000484589.1_3'UTR	p.P609L	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN			2	2431	+			609					Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	c.1826C>T	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357296	0.82243	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.72942	-0.7;-0.63	6.02	6.02	0.97574	.	.	.	.	.	T	0.81626	0.4862	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.66847	0.947;0.886	T	0.78244	-0.2279	8	.	.	.	-10.3062	20.5373	0.99239	0.0:1.0:0.0:0.0	.	609;609	Q14004-2;Q14004	.;CDK13_HUMAN	L	609	ENSP00000181839:P609L;ENSP00000340557:P609L	.	P	+	2	0	CDK13	39994337	0.999000	0.42202	0.977000	0.42913	0.994000	0.84299	4.438000	0.59961	2.857000	0.98124	0.650000	0.86243	CCG		0.393	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		22	47	0	0	0	0.099896	0	22	47					T	40027812	C	T	40027812	3	4	103	1	0	0	0	0	1	0	0	0	3129	652	23	1	1832	1	CDK13	7	40027812	Missense_Mutation	SNP	C	TCGA-DJ-A2PZ-01A-21D-A18F-08		40027812	119110851	8	2201											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		18	47	0	0	0	0.038395	0	18	47					T	140453136	A	T	140453136	3	4	103	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2PZ-01A-21D-A18F-08	100425324	140453136	18685527	9	2202											
CHD7	55636	broad.mit.edu	37	chr8	61707578	61707578	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gactcagaagcaagtgctttGaagaaaaaggtcaacaaggg	12	6	2	3			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr8:61707578G>T	ENST00000423902.2	+	4	2609	c.2130G>T	c.(2128-2130)ttG>ttT	p.L710F	CHD7_ENST00000525508.1_Missense_Mutation_p.L710F|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	710	Lys-rich.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CAAGTGCTTTGAAGAAAAAGG	0.403																																						ENST00000423902.2																			1	Insertion - In frame(1)	p.556_871dup(1)	lung(1)	NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(2128-2130)ttG>ttT		chromodomain helicase DNA binding protein 7							74	75	74					8																	61707578		1819	4071	5890	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61707578G>T	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.2130G>T	8.37:g.61707578G>T	ENSP00000392028:p.Leu710Phe					CHD7_ENST00000525508.1_Missense_Mutation_p.L710F|CHD7_ENST00000524602.1_Intron	p.L710F	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		4	2609	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	710			Lys-rich.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.2130G>T	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791634	0.50102	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000525508	D;T	0.81579	-1.51;-1.09	5.46	5.46	0.80206	.	0.000000	0.33712	N	0.004636	T	0.68650	0.3024	N	0.08118	0	0.35872	D	0.828337	B	0.19445	0.036	B	0.23574	0.047	T	0.68250	-0.5458	10	0.44086	T	0.13	-11.4688	19.6793	0.95956	0.0:0.0:1.0:0.0	.	710	Q9P2D1	CHD7_HUMAN	F	710	ENSP00000392028:L710F;ENSP00000436027:L710F	ENSP00000307304:L710F	L	+	3	2	CHD7	61870132	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.666000	0.37460	2.713000	0.92767	0.655000	0.94253	TTG		0.403	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		4	95	1	0	0.000602214	0.014758	0.00109151	4	95					T	61707578	G	T	61707578	3	4	103	1	0	0	0	0	1	0	0	0	3330	1281	45	4	2140	4	CHD7	8	61707578	Missense_Mutation	SNP	G	TCGA-DJ-A2PZ-01A-21D-A18F-08		61707578	84656444	10	2203											
METTL11A	28989	broad.mit.edu	37	chr9	132397704	132397704	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagaggcaggagaacctcccCgatgagatctaccatgtcta	11	11	2	3	rs151072869		TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr9:132397704C>G	ENST00000372486.1	+	4	982	c.633C>G	c.(631-633)ccC>ccG	p.P211P	NTMT1_ENST00000372480.1_Silent_p.P211P|NTMT1_ENST00000482347.1_Silent_p.P123P|NTMT1_ENST00000372483.4_Silent_p.P211P|NTMT1_ENST00000372481.3_3'UTR			Q9BV86	NTM1A_HUMAN	N-terminal Xaa-Pro-Lys N-methyltransferase 1	211					chromosome segregation (GO:0007059)|N-terminal peptidyl-proline dimethylation (GO:0018016)|N-terminal peptidyl-serine dimethylation (GO:0035572)|N-terminal peptidyl-serine trimethylation (GO:0035573)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein methyltransferase activity (GO:0008276)										AGAACCTCCCCGATGAGATCT	0.627																																						ENST00000372486.1																			0											c.(631-633)ccC>ccG		N-terminal Xaa-Pro-Lys N-methyltransferase 1																																				SO:0001819	synonymous_variant	28989							g.chr9:132397704C>G	AF110776	CCDS35160.1, CCDS69682.1, CCDS75918.1	9q34.2	2012-11-05	2012-06-12	2012-06-12	ENSG00000148335	ENSG00000148335	2.1.1.n5		23373	protein-coding gene	gene with protein product		613560	"chromosome 9 open reading frame 32", "methyltransferase like 11A"	C9orf32, METTL11A		20481588	Standard	XM_005251939		Approved	AD-003, HOMT1A	uc004byd.1	Q9BV86	OTTHUMG00000020785	ENST00000372486.1:c.633C>G	9.37:g.132397704C>G						NTMT1_ENST00000372480.1_Silent_p.P211P|NTMT1_ENST00000372483.4_Silent_p.P211P|NTMT1_ENST00000482347.1_Silent_p.P123P|NTMT1_ENST00000372481.3_3'UTR	p.P211P							4	982	+								A8K4J2|A8K8G7|Q5SZB9|Q9UI28	Silent	SNP	ENST00000372486.1	37	c.633C>G	CCDS35160.1																																																																																				0.627	NTMT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054589.1	NM_014064		3	107	0	0	0	0.004672	0	3	107					G	132397704	C	G	132397704	2	3	103	1	0	0	0	0	0	0	0	1	9495	639	23	4		4	METTL11A	9	132397704	Silent	SNP	C	TCGA-DJ-A2PZ-01A-21D-A18F-08		132397704	8815727	11	2204											
MKI67	4288	broad.mit.edu	37	chr10	129903719	129903719	+	Frame_Shift_Del	DEL	C	C	-													tgagagctcttccactatatCccttttccccaaaggtgttt					rs370653168		TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr10:129903719delC	ENST00000368654.3	-	13	6760	c.6385delG	c.(6385-6387)gatfs	p.D2129fs	MKI67_ENST00000368653.3_Frame_Shift_Del_p.D1769fs	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2129	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCCACTATATCCCTTTTCCCC	0.488																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(6385-6387)atfs		marker of proliferation Ki-67							295	285	289					10																	129903719		2203	4300	6503	SO:0001589	frameshift_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129903719delC	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.6385delG	10.37:g.129903719delC	ENSP00000357643:p.Asp2129fs					MKI67_ENST00000368653.3_Frame_Shift_Del_p.D1769fs	p.D2129fs	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	6760	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2129			16 X 122 AA approximate repeats.		Q5VWH2	Frame_Shift_Del	DEL	ENST00000368654.3	37	c.6385delG	CCDS7659.1																																																																																				0.488	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		14	366						14	366	---	---	---	---	-	129903719	C	-	129903719	7	5	103	1	0	1	0	1	0	0	0	0	9598	855	30	0	3397	0	MKI67	10	129903719	Frame_Shift_Del	DEL	C	TCGA-DJ-A2PZ-01A-21D-A18F-08		129903719	5631028	12	2205											
CADM1	23705	broad.mit.edu	37	chr11	115102104	115102104	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtgttccctttgaaccacctGatagtcgtggctggcttgct	11	11	0	2			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr11:115102104G>C	ENST00000452722.3	-	4	551	c.531C>G	c.(529-531)atC>atG	p.I177M	CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000331581.6_Missense_Mutation_p.I177M|CADM1_ENST00000536727.1_Missense_Mutation_p.I177M|CADM1_ENST00000537058.1_Missense_Mutation_p.I177M|CADM1_ENST00000542447.2_Missense_Mutation_p.I177M	NM_014333.3	NP_055148.3			cell adhesion molecule 1									p.I177I(1)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		TGAACCACCTGATAGTCGTGG	0.463																																						ENST00000542447.2																			1	Substitution - coding silent(1)	p.I177I(1)	lung(1)	cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(529-531)atC>atG		cell adhesion molecule 1							251	218	230					11																	115102104		2201	4296	6497	SO:0001583	missense	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115102104G>C	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5951	protein-coding gene	gene with protein product	"nectin-like 2"	605686	"tumor suppressor in lung cancer 1", "immunoglobulin superfamily, member 4"	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.531C>G	11.37:g.115102104G>C	ENSP00000395359:p.Ile177Met					CADM1_ENST00000331581.6_Missense_Mutation_p.I177M|CADM1_ENST00000452722.2_Missense_Mutation_p.I177M|CADM1_ENST00000537058.1_Missense_Mutation_p.I177M|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000536727.1_Missense_Mutation_p.I177M	p.I177M	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	4	659	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	177			Ig-like C2-type 1.			Missense_Mutation	SNP	ENST00000452722.3	37	c.531C>G	CCDS8373.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	19.05|19.05|19.05	3.752434|3.752434|3.752434	0.69533|0.69533|0.69533	.|.|.	.|.|.	ENSG00000182985|ENSG00000182985|ENSG00000182985	ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581;ENST00000542450;ENST00000543540;ENST00000545094|ENST00000545380|ENST00000543249	D;D;D;D;D;D;D;D|.|.	0.81659|.|.	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52|.|.	6.08|6.08|6.08	4.23|4.23|4.23	0.50019|0.50019|0.50019	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.|.	0.047632|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.74906|0.74906|.	0.3778|0.3778|.	M|M|M	0.87827|0.87827|0.87827	2.91|2.91|2.91	0.58432|0.58432|0.58432	D|D|D	0.999997|0.999997|0.999997	D;D;D;D;D|.|.	0.71674|.|.	0.968;0.998;0.996;0.996;0.985|.|.	P;D;D;D;P|.|.	0.72982|.|.	0.751;0.962;0.959;0.979;0.883|.|.	T|T|.	0.75291|0.75291|.	-0.3369|-0.3369|.	10|5|.	0.62326|.|.	D|.|.	0.03|.|.	.|.|.	7.8521|7.8521|7.8521	0.29462|0.29462|0.29462	0.1331:0.0:0.7359:0.131|0.1331:0.0:0.7359:0.131|0.1331:0.0:0.7359:0.131	.|.|.	177;177;178;177;177|.|.	Q9BY67-2;F5H0J4;A4FVB5;Q9BY67;A0A4Z1|.|.	.;.;.;CADM1_HUMAN;.|.|.	M|E|X	177;177;177;177;136;177;30;30;144|176|161	ENSP00000439176:I177M;ENSP00000395359:I177M;ENSP00000439817:I177M;ENSP00000440322:I177M;ENSP00000329797:I177M;ENSP00000442001:I30M;ENSP00000439847:I30M;ENSP00000439696:I144M|.|.	ENSP00000329797:I177M|.|.	I|Q|S	-|-|-	3|1|2	3|0|0	CADM1|CADM1|CADM1	114607314|114607314|114607314	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.583000|0.583000|0.583000	0.28640|0.28640|0.28640	0.909000|0.909000|0.909000	0.53808|0.53808|0.53808	4.482000|4.482000|4.482000	0.60257|0.60257|0.60257	0.914000|0.914000|0.914000	0.36822|0.36822|0.36822	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	ATC|CAG|TCA		0.463	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		5	81	0	0	0	0.014758	0	5	81					C	115102104	G	C	115102104	3	2	103	1	0	0	0	0	1	0	0	0	2566	1280	45	4	825	4	CADM1	11	115102104	Missense_Mutation	SNP	G	TCGA-DJ-A2PZ-01A-21D-A18F-08		115102104	19904412	13	2206											
STT3A	3703	broad.mit.edu	37	chr11	125479386	125479386	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggatccctcttatgctaAgaacaacatccccatcattg	6	13	2	1			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr11:125479386A>C	ENST00000529196.1	+	11	1225	c.1019A>C	c.(1018-1020)aAg>aCg	p.K340T	STT3A_ENST00000392708.4_Missense_Mutation_p.K340T|STT3A_ENST00000531491.1_Missense_Mutation_p.K248T			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	340					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		TCTTATGCTAAGAACAACATC	0.473																																						ENST00000392708.4																			0				NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33						c.(1018-1020)aAg>aCg		STT3A, subunit of the oligosaccharyltransferase complex (catalytic)							224	203	210					11																	125479386		2201	4299	6500	SO:0001583	missense	3703				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity	g.chr11:125479386A>C	BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"dolichyl-diphosphooligosaccharide protein glycotransferase"	601134	"integral membrane protein 1", "STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)", "STT3A, cataylic subunit of the oligosaccharyltransferase complex"	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.1019A>C	11.37:g.125479386A>C	ENSP00000436962:p.Lys340Thr					STT3A_ENST00000529196.1_Missense_Mutation_p.K340T|STT3A_ENST00000531491.1_Missense_Mutation_p.K248T	p.K340T	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)	10	1178	+	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	340					B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Missense_Mutation	SNP	ENST00000529196.1	37	c.1019A>C	CCDS8458.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.1|24.1	4.495993|4.495993	0.85069|0.85069	.|.	.|.	ENSG00000134910|ENSG00000134910	ENST00000392708;ENST00000529196;ENST00000531491|ENST00000526726	.|.	.|.	.|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.046833|.	0.85682|.	D|.	0.000000|.	T|.	0.78691|.	0.4323|.	M|M	0.85099|0.85099	2.735|2.735	0.80722|0.80722	D|D	1|1	D;D|.	0.67145|.	0.996;0.992|.	D;D|.	0.66351|.	0.943;0.943|.	T|.	0.81342|.	-0.0976|.	9|.	0.37606|.	T|.	0.19|.	-14.1906|-14.1906	15.1066|15.1066	0.72326|0.72326	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	248;340|.	E9PNQ1;P46977|.	.;STT3A_HUMAN|.	T|Y	340;340;248|82	.|.	ENSP00000376472:K340T|.	K|X	+|+	2|3	0|2	STT3A|STT3A	124984596|124984596	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.909000|0.909000	0.53808|0.53808	9.339000|9.339000	0.96797|0.96797	2.052000|2.052000	0.61016|0.61016	0.372000|0.372000	0.22366|0.22366	AAG|TAA		0.473	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386691.1	NM_152713		38	97	0	0	0	0.09836	0	38	97					C	125479386	A	C	125479386	3	2	103	1	0	0	0	0	1	0	0	0	15332	72	3	5	1053	5	STT3A	11	125479386	Missense_Mutation	SNP	A	TCGA-DJ-A2PZ-01A-21D-A18F-08	10377282	125479386	9527130	14	2207											
HSPH1	10808	broad.mit.edu	37	chr13	31725226	31725226	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctcgtattttggattttgCatccaacttgtacttagttt	7	7	0	0			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr13:31725226C>A	ENST00000320027.5	-	7	1110	c.766G>T	c.(766-768)Gca>Tca	p.A256S	HSPH1_ENST00000380405.4_Missense_Mutation_p.A256S|HSPH1_ENST00000429785.2_Missense_Mutation_p.A75S|HSPH1_ENST00000445273.2_Missense_Mutation_p.A258S|HSPH1_ENST00000380406.5_Missense_Mutation_p.A215S	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	256					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TTGGATTTTGCATCCAACTTG	0.373																																						ENST00000320027.5																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(766-768)Gca>Tca		heat shock 105kDa/110kDa protein 1							134	127	129					13																	31725226		2203	4299	6502	SO:0001583	missense	10808				positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	g.chr13:31725226C>A	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"Heat shock proteins / HSP70"	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.766G>T	13.37:g.31725226C>A	ENSP00000318687:p.Ala256Ser					HSPH1_ENST00000380406.5_Missense_Mutation_p.A215S|HSPH1_ENST00000445273.2_Missense_Mutation_p.A258S|HSPH1_ENST00000380405.4_Missense_Mutation_p.A256S|HSPH1_ENST00000429785.2_Missense_Mutation_p.A75S	p.A256S	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)	7	1110	-		Lung SC(185;0.0257)	256					B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Missense_Mutation	SNP	ENST00000320027.5	37	c.766G>T	CCDS9340.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.246741	0.39697	.	.	ENSG00000120694	ENST00000320027;ENST00000380405;ENST00000380406;ENST00000445273;ENST00000429785;ENST00000438061	T;T;T;T;T	0.01025	5.43;5.43;5.43;5.43;5.43	5.68	2.87	0.33458	.	0.403347	0.25535	N	0.030016	T	0.01156	0.0038	L	0.28556	0.865	0.35630	D	0.810169	B;B;B;B;B	0.30973	0.172;0.128;0.302;0.039;0.146	B;B;B;B;B	0.36959	0.232;0.237;0.155;0.127;0.099	T	0.58657	-0.7598	10	0.72032	D	0.01	-17.0601	8.9284	0.35655	0.0:0.6633:0.1844:0.1524	.	75;215;258;256;256	B4DY72;Q92598-3;B4DYH1;Q92598-2;Q92598	.;.;.;.;HS105_HUMAN	S	256;256;215;258;75;307	ENSP00000318687:A256S;ENSP00000369768:A256S;ENSP00000369769:A215S;ENSP00000396090:A258S;ENSP00000388778:A75S	ENSP00000318687:A256S	A	-	1	0	HSPH1	30623226	1.000000	0.71417	1.000000	0.80357	0.029000	0.11900	2.617000	0.46385	0.875000	0.35847	-0.218000	0.12543	GCA		0.373	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1			25	48	1	0	1.85244e-09	0.083992	3.8372e-09	25	48					A	31725226	C	A	31725226	3	1	103	1	0	0	0	0	1	0	0	0	7431	710	25	4	1858	4	HSPH1	13	31725226	Missense_Mutation	SNP	C	TCGA-DJ-A2PZ-01A-21D-A18F-08		31725226	83444652	15	2208											
F7	2155	broad.mit.edu	37	chr13	113768272	113768272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagggccggaactgtgagaCgcgtaaggccccactttggg	16	11	0	1			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr13:113768272C>T	ENST00000375581.3	+	5	463	c.428C>T	c.(427-429)aCg>aTg	p.T143M	F7_ENST00000346342.3_Missense_Mutation_p.T121M|F7_ENST00000473085.1_3'UTR|F7_ENST00000541084.1_Missense_Mutation_p.T74M	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	143					blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	AACTGTGAGACGCGTAAGGCC	0.632																																						ENST00000375581.3																			0				large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(427-429)aCg>aTg		coagulation factor VII (serum prothrombin conversion accelerator)	Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)						54	53	54					13																	113768272		2203	4300	6503	SO:0001583	missense	2155				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity	g.chr13:113768272C>T		CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"eptacog alfa", "FVII coagulation protein", "factor VII"	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.428C>T	13.37:g.113768272C>T	ENSP00000364731:p.Thr143Met					F7_ENST00000473085.1_3'UTR|F7_ENST00000541084.1_Missense_Mutation_p.T74M|F7_ENST00000346342.3_Missense_Mutation_p.T121M	p.T143M	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		5	463	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	143					B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Missense_Mutation	SNP	ENST00000375581.3	37	c.428C>T	CCDS9528.1	.	.	.	.	.	.	.	.	.	.	C	4.578	0.107327	0.08780	.	.	ENSG00000057593	ENST00000346342;ENST00000541084;ENST00000375581	D;D;D	0.99445	-5.91;-2.11;-5.91	4.67	-7.26	0.01466	.	0.663946	0.15011	N	0.285530	D	0.98682	0.9558	M	0.80847	2.515	0.33896	D	0.637871	D;P;D;D	0.67145	0.971;0.951;0.994;0.996	P;P;P;P	0.54238	0.746;0.561;0.708;0.514	D	0.99035	1.0822	10	0.32370	T	0.25	.	7.2659	0.26229	0.4588:0.2782:0.0:0.2631	.	74;74;121;143	F5H8B0;B4DPM2;P08709-2;P08709	.;.;.;FA7_HUMAN	M	121;74;143	ENSP00000329546:T121M;ENSP00000442051:T74M;ENSP00000364731:T143M	ENSP00000329546:T121M	T	+	2	0	F7	112816273	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.481000	0.06552	-2.293000	0.00664	-3.528000	0.00032	ACG		0.632	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045838.4	NM_000131		12	44	0	0	0	0.020292	0	12	44					T	113768272	C	T	113768272	3	4	103	1	0	0	0	0	1	0	0	0	5349	536	19	1	446	1	F7	13	113768272	Missense_Mutation	SNP	C	TCGA-DJ-A2PZ-01A-21D-A18F-08	82043046	113768272	1401606	16	2209											
SYNE2	23224	broad.mit.edu	37	chr14	64560157	64560157	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagctcagttctcccttgaaCatatgtcaccagaccaagct	6	14	3	2	rs562336595		TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr14:64560157C>A	ENST00000344113.4	+	61	12279	c.12067C>A	c.(12067-12069)Cat>Aat	p.H4023N	SYNE2_ENST00000555002.1_Missense_Mutation_p.H657N|SYNE2_ENST00000358025.3_Missense_Mutation_p.H4023N|MIR548H1_ENST00000408610.1_RNA|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Missense_Mutation_p.H408N|SYNE2_ENST00000394768.2_Missense_Mutation_p.H408N|SYNE2_ENST00000554584.1_Missense_Mutation_p.H4056N	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4023					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTCCCTTGAACATATGTCACC	0.328																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(1222-1224)Cat>Aat		spectrin repeat containing, nuclear envelope 2							126	128	127					14																	64560157		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64560157C>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.12067C>A	14.37:g.64560157C>A	ENSP00000341781:p.His4023Asn					SYNE2_ENST00000554584.1_Missense_Mutation_p.H4056N|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.H408N|SYNE2_ENST00000358025.3_Missense_Mutation_p.H4023N|SYNE2_ENST00000344113.4_Missense_Mutation_p.H4023N|SYNE2_ENST00000555002.1_Missense_Mutation_p.H657N	p.H408N			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	62	12366	+			4023					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.1222C>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	9.984	1.228899	0.22542	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.55588	0.88;4.18;0.88;0.51;4.23;4.18	5.88	1.61	0.23674	.	0.735458	0.12510	N	0.462543	T	0.31420	0.0796	N	0.17082	0.46	0.44309	D	0.997182	B;B;B;B	0.06786	0.0;0.001;0.0;0.001	B;B;B;B	0.06405	0.002;0.001;0.002;0.002	T	0.08554	-1.0716	10	0.09590	T	0.72	.	10.1291	0.42667	0.1483:0.3541:0.4976:0.0	.	408;4057;4023;4023	Q8WXH0-7;D4YW74;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	N	4023;408;4023;4056;4056;657;408	ENSP00000350719:H4023N;ENSP00000349969:H408N;ENSP00000341781:H4023N;ENSP00000452570:H4056N;ENSP00000450831:H657N;ENSP00000378249:H408N	ENSP00000261678:H4056N	H	+	1	0	SYNE2	63629910	0.075000	0.21258	0.751000	0.31187	0.995000	0.86356	-0.125000	0.10579	0.764000	0.33197	0.585000	0.79938	CAT		0.328	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		4	94	1	0	0.00024832	0.009096	0.000464599	4	94					A	64560157	C	A	64560157	3	1	103	1	0	0	0	0	1	0	0	0	15443	478	17	4	12305	4	SYNE2	14	64560157	Missense_Mutation	SNP	C	TCGA-DJ-A2PZ-01A-21D-A18F-08		64560157	42789383	17	2210											
RBBP6	5930	broad.mit.edu	37	chr16	24581020	24581021	+	Frame_Shift_Ins	INS	-	-	AC													cttttaaatcagtgtctgaaINSaaagacaagagagaaaggga							TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr16:24581020_24581021insAC	ENST00000319715.4	+	17	3441_3442	c.3009_3010insAC	c.(3010-3012)aaafs	p.K1004fs	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Frame_Shift_Ins_p.K970fs	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1004	Interaction with RB1. {ECO:0000250}.				embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CAGTGTCTGAAAAAGACAAGAG	0.371																																						ENST00000319715.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(3007-3012)gaaagafs		retinoblastoma binding protein 6																																				SO:0001589	frameshift_variant	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24581020_24581021insAC		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	Exception_encountered	16.37:g.24581020_24581021insAC	ENSP00000317872:p.Lys1004fs					RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Frame_Shift_Ins_p.R970fs	p.R1004fs	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	17	3441_3442	+			1004			Interaction with RB1 (By similarity).		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Frame_Shift_Ins	INS	ENST00000319715.4	37	c.3009_3010insAC	CCDS10621.1																																																																																				0.371	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		45	65						45	65	---	---	---	---	AC	24581021	-	AC	24581020	7	5	103	1	0	1	1	0	0	0	0	0	13103	11	1	0	3129	0	RBBP6	16	24581020	Frame_Shift_Ins	INS	-	TCGA-DJ-A2PZ-01A-21D-A18F-08		24581020	65773733	18	2211											
ZC3H18	124245	broad.mit.edu	37	chr16	88675418	88675418	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggacagtatgagaatttcAgggtgcagtatacagaaaca	12	6	1	2			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr16:88675418A>G	ENST00000301011.5	+	7	1365	c.1165A>G	c.(1165-1167)Agg>Ggg	p.R389G	ZC3H18_ENST00000452588.2_Missense_Mutation_p.R413G	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	389						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		TGAGAATTTCAGGGTGCAGTA	0.408																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1165-1167)Agg>Ggg		zinc finger CCCH-type containing 18							136	126	130					16																	88675418		2198	4300	6498	SO:0001583	missense	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88675418A>G	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"Zinc fingers, CCCH-type domain containing"	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1165A>G	16.37:g.88675418A>G	ENSP00000301011:p.Arg389Gly					ZC3H18_ENST00000452588.2_Missense_Mutation_p.R413G	p.R389G	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	7	1365	+			389					Q96DG4|Q96MP7	Missense_Mutation	SNP	ENST00000301011.5	37	c.1165A>G	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	A	15.30	2.792308	0.50102	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588;ENST00000545404	T;T	0.37752	1.22;1.18	5.41	1.83	0.25207	.	0.000000	0.85682	D	0.000000	T	0.55481	0.1923	M	0.66939	2.045	0.58432	D	0.999994	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.83275	0.996;0.99;0.996	T	0.54173	-0.8333	10	0.54805	T	0.06	-30.0361	13.302	0.60330	0.5738:0.4262:0.0:0.0	.	413;413;389	E7ERS3;B4DTK7;Q86VM9	.;.;ZCH18_HUMAN	G	389;413;413;272	ENSP00000301011:R389G;ENSP00000416951:R413G	ENSP00000289509:R413G	R	+	1	2	ZC3H18	87202919	1.000000	0.71417	0.999000	0.59377	0.819000	0.46315	1.013000	0.29937	0.036000	0.15547	0.459000	0.35465	AGG		0.408	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		3	91	0	0	0	0.004672	0	3	91					G	88675418	A	G	88675418	3	3	103	1	0	0	0	0	1	0	0	0	17565	179	7	3	1187	3	ZC3H18	16	88675418	Missense_Mutation	SNP	A	TCGA-DJ-A2PZ-01A-21D-A18F-08	64094398	88675418	1679335	19	2212											
CAPNS1	826	broad.mit.edu	37	chr19	36637183	36637183	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atggattttgacaacttcatCagctgcttggtcaggctgga	11	8	3	1			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr19:36637183C>A	ENST00000246533.3	+	9	1288	c.690C>A	c.(688-690)atC>atA	p.I230I	CAPNS1_ENST00000587718.1_Silent_p.I230I|CAPNS1_ENST00000590874.1_Silent_p.I200I|CAPNS1_ENST00000588815.1_Silent_p.I230I|CAPNS1_ENST00000589146.1_Silent_p.I56I|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000588780.1_Silent_p.I240I	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	230	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACAACTTCATCAGCTGCTTGG	0.493																																					Esophageal Squamous(129;1541 1691 5780 18353 34150)	ENST00000246533.3																			0				cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(688-690)atC>atA		calpain, small subunit 1							238	224	229					19																	36637183		2203	4300	6503	SO:0001819	synonymous_variant	826				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr19:36637183C>A	X04106	CCDS12489.1	19q13.1	2013-01-10		2001-08-10	ENSG00000126247	ENSG00000126247	3.4.22.52	"EF-hand domain containing"	1481	protein-coding gene	gene with protein product		114170		CAPN4		3024120, 3016651	Standard	NM_001003962		Approved	CANP, CANPS, 30K, CDPS	uc002odj.3	P04632		ENST00000246533.3:c.690C>A	19.37:g.36637183C>A						CAPNS1_ENST00000588815.1_Silent_p.I230I|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000587718.1_Silent_p.I230I|CAPNS1_ENST00000590874.1_Silent_p.I200I|CAPNS1_ENST00000588780.1_Silent_p.I240I|CAPNS1_ENST00000589146.1_Silent_p.I56I	p.I230I	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		9	1288	+	Esophageal squamous(110;0.162)		230			EF-hand 4.		A8K0P1|Q8WTX3|Q96EW0	Silent	SNP	ENST00000246533.3	37	c.690C>A	CCDS12489.1																																																																																				0.493	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457411.2			91	136	1	0	3.04226e-33	0.048971	6.53523e-33	91	136					A	36637183	C	A	36637183	2	1	103	1	0	0	0	0	0	0	0	1	2633	816	29	4		4	CAPNS1	19	36637183	Silent	SNP	C	TCGA-DJ-A2PZ-01A-21D-A18F-08		36637183	22491800	20	2213											
FCGBP	8857	broad.mit.edu	37	chr19	40364079	40364079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccccgttggccaggcagcGgccacagcctgtggcatgac	14	16	0	1			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr19:40364079G>A	ENST00000221347.6	-	31	14570	c.14563C>T	c.(14563-14565)Cgc>Tgc	p.R4855C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4855	VWFD 12. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCAGGCAGCGGCCACAGCCT	0.642																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(14563-14565)Cgc>Tgc		Fc fragment of IgG binding protein							51	50	50					19																	40364079		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40364079G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.14563C>T	19.37:g.40364079G>A	ENSP00000221347:p.Arg4855Cys						p.R4855C	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		31	14570	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4855			VWFD 12.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.14563C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.376895	0.42105	.	.	ENSG00000090920	ENST00000221347	T	0.20332	2.08	5.04	3.98	0.46160	von Willebrand factor, type D domain (2);	0.375020	0.21508	U	0.073405	T	0.37517	0.1006	M	0.67397	2.05	0.39833	D	0.973006	D	0.89917	1.0	D	0.66351	0.943	T	0.18555	-1.0333	10	0.48119	T	0.1	.	6.9341	0.24457	0.0854:0.0:0.6458:0.2688	.	4855	Q9Y6R7	FCGBP_HUMAN	C	4855	ENSP00000221347:R4855C	ENSP00000221347:R4855C	R	-	1	0	FCGBP	45055919	0.001000	0.12720	0.812000	0.32479	0.108000	0.19459	1.037000	0.30241	1.240000	0.43803	0.313000	0.20887	CGC		0.642	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		24	33	0	0	0	0.069288	0	24	33					A	40364079	G	A	40364079	3	1	103	1	0	0	0	0	1	0	0	0	5778	1116	39	1	1678	1	FCGBP	19	40364079	Missense_Mutation	SNP	G	TCGA-DJ-A2PZ-01A-21D-A18F-08	3726896	40364079	18764904	21	2214											
NCOA3	8202	broad.mit.edu	37	chr20	46262900	46262900	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttccgaaatcctgtaacaaAtgatcgacatggctttgtct	7	10	1	1			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr20:46262900A>G	ENST00000371998.3	+	10	1264	c.1073A>G	c.(1072-1074)aAt>aGt	p.N358S	NCOA3_ENST00000372004.3_Missense_Mutation_p.N358S|NCOA3_ENST00000371997.3_Missense_Mutation_p.N368S|NCOA3_ENST00000341724.6_Missense_Mutation_p.N368S			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	358					androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CCTGTAACAAATGATCGACAT	0.398																																						ENST00000372004.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1072-1074)aAt>aGt		nuclear receptor coactivator 3							175	149	158					20																	46262900		2203	4300	6503	SO:0001583	missense	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46262900A>G	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.1073A>G	20.37:g.46262900A>G	ENSP00000361066:p.Asn358Ser					NCOA3_ENST00000341724.6_Missense_Mutation_p.N368S|NCOA3_ENST00000371997.3_Missense_Mutation_p.N368S|NCOA3_ENST00000371998.3_Missense_Mutation_p.N358S	p.N358S	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			10	1289	+			358					A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	c.1073A>G	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.180790	0.78677	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997;ENST00000542882	T;T;T;T	0.16457	2.34;2.34;2.34;2.34	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.36880	0.0983	L	0.51422	1.61	0.53688	D	0.999976	P;D;P;P;P;P	0.89917	0.784;1.0;0.784;0.784;0.863;0.784	P;D;P;P;P;P	0.87578	0.54;0.998;0.54;0.54;0.729;0.54	T	0.02567	-1.1140	10	0.40728	T	0.16	-27.8389	16.0663	0.80878	1.0:0.0:0.0:0.0	.	358;368;362;358;358;358	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	S	358;368;358;358;368;124	ENSP00000342123:N368S;ENSP00000361073:N358S;ENSP00000361066:N358S;ENSP00000361065:N368S	ENSP00000345671:N358S	N	+	2	0	NCOA3	45696307	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	6.292000	0.72725	2.201000	0.70794	0.533000	0.62120	AAT		0.398	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		23	74	0	0	0	0.0918	0	23	74					G	46262900	A	G	46262900	3	3	103	1	0	0	0	0	1	0	0	0	10230	101	4	3	1133	3	NCOA3	20	46262900	Missense_Mutation	SNP	A	TCGA-DJ-A2PZ-01A-21D-A18F-08		46262900	16762620	22	2215											
ICMT	23463	broad.mit.edu	37	chr1	6291980	6291980	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctgagttccaatactccaGtaaaaccacccgacgtaaga	6	13	0	2			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr1:6291980G>T	ENST00000343813.5	-	4	682	c.654C>A	c.(652-654)taC>taA	p.Y218*		NM_012405.3	NP_036537.1	O60725	ICMT_HUMAN	isoprenylcysteine carboxyl methyltransferase	218					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|positive regulation of cell proliferation (GO:0008284)|protein targeting to membrane (GO:0006612)|regulation of Ras protein signal transduction (GO:0046578)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cAMP response element binding protein binding (GO:0008140)|protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity (GO:0004671)			NS(1)|endometrium(2)	3	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CAATACTCCAGTAAAACCACC	0.363																																						ENST00000343813.5																			0				NS(1)|endometrium(2)	3						c.(652-654)taC>taA		isoprenylcysteine carboxyl methyltransferase							99	93	95					1																	6291980		2202	4300	6502	SO:0001587	stop_gained	23463				protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity	g.chr1:6291980G>T	AF064084	CCDS61.1	1p36	2010-04-29			ENSG00000116237	ENSG00000116237	2.1.1.100		5350	protein-coding gene	gene with protein product	"protein-S-isoprenylcysteine O-methyltransferase"	605851				9614111, 10441503	Standard	XM_005263437		Approved	PCCMT, HSTE14, PPMT	uc001amk.3	O60725	OTTHUMG00000001254	ENST00000343813.5:c.654C>A	1.37:g.6291980G>T	ENSP00000343552:p.Tyr218*						p.Y218*	NM_012405.3	NP_036537.1	O60725	ICMT_HUMAN		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)	4	682	-	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)	218					Q6FHT0	Nonsense_Mutation	SNP	ENST00000343813.5	37	c.654C>A	CCDS61.1	.	.	.	.	.	.	.	.	.	.	G	37	6.250618	0.97412	.	.	ENSG00000116237	ENST00000343813;ENST00000535068	.	.	.	5.92	5.01	0.66863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0643	0.64819	0.0718:0.0:0.9282:0.0	.	.	.	.	X	218;122	.	ENSP00000343552:Y218X	Y	-	3	2	ICMT	6214567	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.236000	0.72339	1.509000	0.48786	0.655000	0.94253	TAC		0.363	ICMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003681.1	NM_012405		14	60	1	0	5.01169e-05	0.00499	0.000119278	14	60					T	6291980	G	T	6291980	4	4	104	1	0	0	0	0	0	1	0	0	7485	1024	36	4	208	4	ICMT	1	6291980	Nonsense_Mutation	SNP	G	TCGA-DJ-A2Q0-01A-11D-A202-08		6291980	242958641	1	2216											
EPRS	2058	broad.mit.edu	37	chr1	220198558	220198558	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttaaagttaacctggtagtgCtggttcagaagagcagcttt	11	6	1	2			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr1:220198558C>G	ENST00000366923.3	-	7	935	c.666G>C	c.(664-666)caG>caC	p.Q222H		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	222	Glutamate--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	CCTGGTAGTGCTGGTTCAGAA	0.318																																						ENST00000366923.3																			0				breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63						c.(664-666)caG>caC		glutamyl-prolyl-tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						117	112	114					1																	220198558		2203	4300	6503	SO:0001583	missense	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220198558C>G	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"Aminoacyl tRNA synthetases / Class I", "Aminoacyl tRNA synthetases / Class II"	3418	protein-coding gene	gene with protein product	"glutamate tRNA ligase", "proline tRNA ligase"	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.666G>C	1.37:g.220198558C>G	ENSP00000355890:p.Gln222His						p.Q222H	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	7	935	-			222			Glutamyl-tRNA synthetase.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	c.666G>C	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665484	0.88251	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.23552	1.9	5.63	5.63	0.86233	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.46502	0.1396	L	0.55990	1.75	0.80722	D	1	D;B;D	0.71674	0.998;0.096;0.997	D;B;D	0.72625	0.978;0.051;0.962	T	0.33929	-0.9849	10	0.87932	D	0	-21.218	15.2435	0.73488	0.0:0.9306:0.0:0.0694	.	222;222;222	F5H7I7;Q3KQZ8;P07814	.;.;SYEP_HUMAN	H	222	ENSP00000355890:Q222H	ENSP00000355890:Q222H	Q	-	3	2	EPRS	218265181	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.732000	0.62029	2.814000	0.96858	0.591000	0.81541	CAG		0.318	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		3	45	0	0	0	0.000248	0	3	45					G	220198558	C	G	220198558	3	3	104	1	0	0	0	0	1	0	0	0	5191	796	28	4	3976	4	EPRS	1	220198558	Missense_Mutation	SNP	C	TCGA-DJ-A2Q0-01A-11D-A202-08	213906578	220198558	29052063	2	2217											
RYR2	6262	broad.mit.edu	37	chr1	237758830	237758830	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caactgctatatggtatgtgCgggtgagagcatgagccccg	14	9	0	2			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr1:237758830C>A	ENST00000366574.2	+	34	4786	c.4469C>A	c.(4468-4470)gCg>gAg	p.A1490E	RYR2_ENST00000360064.6_Missense_Mutation_p.A1488E|RYR2_ENST00000542537.1_Missense_Mutation_p.A1474E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1490	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.A1488V(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGGTATGTGCGGGTGAGAGC	0.463																																						ENST00000366574.2																			1	Substitution - Missense(1)	p.A1488V(1)	haematopoietic_and_lymphoid_tissue(1)	NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(4468-4470)gCg>gAg		ryanodine receptor 2 (cardiac)							85	89	88					1																	237758830		2061	4190	6251	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237758830C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4469C>A	1.37:g.237758830C>A	ENSP00000355533:p.Ala1490Glu					RYR2_ENST00000360064.6_Missense_Mutation_p.A1488E|RYR2_ENST00000542537.1_Missense_Mutation_p.A1474E	p.A1490E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		34	4786	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1490			4 X approximate repeats.|B30.2/SPRY 3.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.4469C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.182958	0.57800	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.58060	0.36;0.36;0.36	5.52	5.52	0.82312	SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000006	T	0.66567	0.2802	L	0.56199	1.76	0.80722	D	1	D	0.64830	0.994	D	0.64506	0.926	T	0.68648	-0.5353	10	0.87932	D	0	.	14.9817	0.71316	0.0:0.8578:0.1422:0.0	.	1490	Q92736	RYR2_HUMAN	E	1490;1488;1474	ENSP00000355533:A1490E;ENSP00000353174:A1488E;ENSP00000443798:A1474E	ENSP00000353174:A1488E	A	+	2	0	RYR2	235825453	0.997000	0.39634	0.985000	0.45067	0.997000	0.91878	3.478000	0.53158	2.598000	0.87819	0.655000	0.94253	GCG		0.463	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		8	30	1	0	1.12685e-05	0.004482	2.73664e-05	8	30					A	237758830	C	A	237758830	3	1	104	1	0	0	0	0	1	0	0	0	13769	768	27	4	4603	4	RYR2	1	237758830	Missense_Mutation	SNP	C	TCGA-DJ-A2Q0-01A-11D-A202-08	17560272	237758830	11491791	3	2218											
OR14I1	401994	broad.mit.edu	37	chr1	248845498	248845498	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagcaggttccccaccagCactgccagataaatcagcag	9	13	1	2			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr1:248845498C>T	ENST00000342623.3	-	1	131	c.108G>A	c.(106-108)gtG>gtA	p.V36V		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	36			V -> A (in dbSNP:rs4462184).			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(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						TCCCCACCAGCACTGCCAGAT	0.498																																						ENST00000342623.3																			0				NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(106-108)gtG>gtA		olfactory receptor, family 14, subfamily I, member 1							100	85	90					1																	248845498		2203	4300	6503	SO:0001819	synonymous_variant	401994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248845498C>T		CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"GPCR / Class A : Olfactory receptors"	19575	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily BU, member 1"	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.108G>A	1.37:g.248845498C>T							p.V36V	NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN			1	131	-			36		V -> A (in dbSNP:rs4462184).				Silent	SNP	ENST00000342623.3	37	c.108G>A	CCDS31125.1																																																																																				0.498	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734		9	41	0	0	0	0.00499	0	9	41					T	248845498	C	T	248845498	2	4	104	1	0	0	0	0	0	0	0	1	10947	697	25	2		2	OR14I1	1	248845498	Silent	SNP	C	TCGA-DJ-A2Q0-01A-11D-A202-08	11086668	248845498	405123	4	2219											
WDR33	55339	broad.mit.edu	37	chr2	128477839	128477839	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttggaccttgtcctggaaaaGgctggggtccgaggagaggg	18	7	0	1			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr2:128477839G>C	ENST00000322313.4	-	16	1918	c.1760C>G	c.(1759-1761)cCt>cGt	p.P587R		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	587					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCCTGGAAAAGGCTGGGGTCC	0.493																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(1759-1761)cCt>cGt		WD repeat domain 33							93	102	99					2																	128477839		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128477839G>C		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"WD repeat domain containing"	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.1760C>G	2.37:g.128477839G>C	ENSP00000325377:p.Pro587Arg						p.P587R	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	16	1918	-	Colorectal(110;0.1)		587					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.1760C>G	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.985535	0.35036	.	.	ENSG00000136709	ENST00000322313	D	0.89196	-2.48	5.29	5.29	0.74685	.	0.213149	0.39687	N	0.001297	T	0.77592	0.4153	N	0.08118	0	0.80722	D	1	B	0.34015	0.435	B	0.28385	0.089	T	0.79584	-0.1743	10	0.51188	T	0.08	-4.1823	14.6281	0.68638	0.0:0.0:0.8537:0.1462	.	587	Q9C0J8	WDR33_HUMAN	R	587	ENSP00000325377:P587R	ENSP00000325377:P587R	P	-	2	0	WDR33	128194309	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.530000	0.53539	2.452000	0.82932	0.585000	0.79938	CCT		0.493	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		5	115	0	0	0	0.001168	0	5	115					C	128477839	G	C	128477839	3	2	104	1	0	0	0	0	1	0	0	0	17284	1000	35	4	2278	4	WDR33	2	128477839	Missense_Mutation	SNP	G	TCGA-DJ-A2Q0-01A-11D-A202-08		128477839	114721534	5	2220											
ZNF385D	79750	broad.mit.edu	37	chr3	21478657	21478657	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttttgcggatttccacagTtgtcgtcgttgatattgctg	11	8	0	1			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr3:21478657T>C	ENST00000281523.2	-	5	996	c.478A>G	c.(478-480)Act>Gct	p.T160A	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	160	Thr-rich.					nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						ATTTCCACAGTTGTCGTCGTT	0.428																																						ENST00000281523.2																			0				NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						c.(478-480)Act>Gct		zinc finger protein 385D							151	141	144					3																	21478657		2203	4300	6503	SO:0001583	missense	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21478657T>C	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"zinc finger protein 659"	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.478A>G	3.37:g.21478657T>C	ENSP00000281523:p.Thr160Ala					ZNF385D_ENST00000494118.1_5'UTR	p.T160A	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN			5	996	-			160			Thr-rich.			Missense_Mutation	SNP	ENST00000281523.2	37	c.478A>G	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	T	9.621	1.133937	0.21123	.	.	ENSG00000151789	ENST00000281523	T	0.29917	1.55	5.64	5.64	0.86602	.	0.483859	0.22116	N	0.064401	T	0.16514	0.0397	N	0.08118	0	0.28438	N	0.916948	B	0.09022	0.002	B	0.08055	0.003	T	0.08554	-1.0716	10	0.08837	T	0.75	-19.6756	15.8342	0.78787	0.0:0.0:0.0:1.0	.	160	Q9H6B1	Z385D_HUMAN	A	160	ENSP00000281523:T160A	ENSP00000281523:T160A	T	-	1	0	ZNF385D	21453661	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.454000	0.35178	2.152000	0.67230	0.460000	0.39030	ACT		0.428	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		14	65	0	0	0	0.00245	0	14	65					C	21478657	T	C	21478657	3	2	104	1	0	0	0	0	1	0	0	0	17875	1725	60	3	725	3	ZNF385D	3	21478657	Missense_Mutation	SNP	T	TCGA-DJ-A2Q0-01A-11D-A202-08		21478657	176543773	6	2221											
TNNC1	7134	broad.mit.edu	37	chr3	52485804	52485804	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gacagctcctcctcagatttCcctttgctgtcgtccttcat	6	15	2	1			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr3:52485804C>G	ENST00000232975.3	-	4	327	c.273G>C	c.(271-273)ggG>ggC	p.G91G		NM_003280.2	NP_003271.1	P63316	TNNC1_HUMAN	troponin C type 1 (slow)	91					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of muscle contraction (GO:0006937)|regulation of muscle filament sliding speed (GO:0032972)|response to metal ion (GO:0010038)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|troponin complex (GO:0005861)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)|troponin I binding (GO:0031013)|troponin T binding (GO:0031014)			endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Felodipine(DB01023)|Levosimendan(DB00922)|Trifluoperazine(DB00831)	CCTCAGATTTCCCTTTGCTGT	0.567																																						ENST00000232975.3																			0				endometrium(1)|lung(3)|ovary(1)|skin(1)	6						c.(271-273)ggG>ggC		troponin C type 1 (slow)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)						203	146	166					3																	52485804		2203	4300	6503	SO:0001819	synonymous_variant	7134				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding	g.chr3:52485804C>G		CCDS2857.1	3p21.1	2014-09-17	2005-09-12		ENSG00000114854	ENSG00000114854		"EF-hand domain containing"	11943	protein-coding gene	gene with protein product		191040	"troponin C, slow"	TNNC			Standard	NM_003280		Approved		uc003deb.3	P63316	OTTHUMG00000158572	ENST00000232975.3:c.273G>C	3.37:g.52485804C>G							p.G91G	NM_003280.2	NP_003271.1	P63316	TNNC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	4	327	-			91					O14800|P02590|P04463	Silent	SNP	ENST00000232975.3	37	c.273G>C	CCDS2857.1																																																																																				0.567	TNNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351371.1			4	98	0	0	0	0.000248	0	4	98					G	52485804	C	G	52485804	2	3	104	1	0	0	0	0	0	0	0	1	16321	842	30	4		4	TNNC1	3	52485804	Silent	SNP	C	TCGA-DJ-A2Q0-01A-11D-A202-08	31007147	52485804	145536626	7	2222											
SLITRK3	22865	broad.mit.edu	37	chr3	164906055	164906055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcggaaccctgccaagtctCccccagttcccccaactact	7	19	1	0	rs372066939		TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr3:164906055C>T	ENST00000475390.1	-	2	3007	c.2564G>A	c.(2563-2565)gGa>gAa	p.G855E	SLITRK3_ENST00000241274.3_Missense_Mutation_p.G855E			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	855					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TGCCAAGTCTCCCCCAGTTCC	0.567										HNSCC(40;0.11)																												ENST00000475390.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(2563-2565)gGa>gAa		SLIT and NTRK-like family, member 3							93	89	90					3																	164906055		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164906055C>T	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2564G>A	3.37:g.164906055C>T	ENSP00000420091:p.Gly855Glu	HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_Missense_Mutation_p.G855E	p.G855E			O94933	SLIK3_HUMAN			2	3007	-			855					Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.2564G>A	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.528910	0.27387	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.59772	0.24;0.24	5.95	4.14	0.48551	.	0.000000	0.36815	N	0.002383	T	0.46483	0.1395	L	0.29908	0.895	0.44825	D	0.997838	B	0.31318	0.319	B	0.26094	0.066	T	0.45338	-0.9268	10	0.72032	D	0.01	-9.1106	15.855	0.78972	0.0:0.6163:0.3837:0.0	.	855	O94933	SLIK3_HUMAN	E	855	ENSP00000420091:G855E;ENSP00000241274:G855E	ENSP00000241274:G855E	G	-	2	0	SLITRK3	166388749	0.998000	0.40836	1.000000	0.80357	0.872000	0.50106	0.650000	0.24858	0.823000	0.34589	0.655000	0.94253	GGA		0.567	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		48	69	0	0	0	0.00361	0	48	69					T	164906055	C	T	164906055	3	4	104	1	0	0	0	0	1	0	0	0	14744	855	30	2	373	2	SLITRK3	3	164906055	Missense_Mutation	SNP	C	TCGA-DJ-A2Q0-01A-11D-A202-08	112420251	164906055	33116375	8	2223											
NSUN7	79730	broad.mit.edu	37	chr4	40776343	40776343	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaagcatgatgccctttcaAtttaccacatccttccagaa	4	13	2	2	rs148671827		TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr4:40776343A>G	ENST00000381782.2	+	5	1045	c.550A>G	c.(550-552)Att>Gtt	p.I184V	NSUN7_ENST00000463952.1_3'UTR|NSUN7_ENST00000316607.5_Missense_Mutation_p.I184V	NM_024677.4	NP_078953	Q8NE18	NSUN7_HUMAN	NOP2/Sun domain family, member 7	184							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						TGCCCTTTCAATTTACCACAT	0.373																																						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.(550-552)Att>Gtt		NOP2/Sun domain family, member 7		A	VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	111	110	110		550	5.0	1.0	4	dbSNP_134	110	0,8600		0,0,4300	no	missense	NSUN7	NM_024677.4	29	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign	184/719	40776343	1,13005	2203	4300	6503	SO:0001583	missense	79730							g.chr4:40776343A>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.550A>G	4.37:g.40776343A>G	ENSP00000371201:p.Ile184Val					NSUN7_ENST00000316607.5_Missense_Mutation_p.I184V|NSUN7_ENST00000463952.1_3'UTR	p.I184V	NM_024677.4	NP_078953.3					5	1045	+								C9JI19|Q8N9K8|Q9H815	Missense_Mutation	SNP	ENST00000381782.2	37	c.550A>G	CCDS3461.2	.	.	.	.	.	.	.	.	.	.	A	15.19	2.761276	0.49468	2.27E-4	0.0	ENSG00000179299	ENST00000381782;ENST00000316607	T;T	0.40476	1.03;1.03	5.04	5.04	0.67666	.	0.106801	0.64402	D	0.000006	T	0.43986	0.1272	M	0.63428	1.95	0.41061	D	0.985374	P;P;B	0.49358	0.874;0.923;0.323	P;P;B	0.45794	0.493;0.47;0.227	T	0.37572	-0.9700	10	0.13470	T	0.59	-22.5473	14.7426	0.69467	1.0:0.0:0.0:0.0	.	184;184;184	Q8NE18;Q8NE18-2;Q8NE18-3	NSUN7_HUMAN;.;.	V	184	ENSP00000371201:I184V;ENSP00000319127:I184V	ENSP00000319127:I184V	I	+	1	0	NSUN7	40471100	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.537000	0.73847	2.014000	0.59158	0.459000	0.35465	ATT		0.373	NSUN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250454.2	NM_024677		4	82	0	0	0	0.000248	0	4	82					G	40776343	A	G	40776343	3	3	104	1	0	0	0	0	1	0	0	0	10683	101	4	3	564	3	NSUN7	4	40776343	Missense_Mutation	SNP	A	TCGA-DJ-A2Q0-01A-11D-A202-08		40776343	150377933	9	2224											
JAKMIP2	9832	broad.mit.edu	37	chr5	147051354	147051354	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcttctcgcccttatttcGccctttcttggacattgttc	8	13	2	0	rs373933909		TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr5:147051354G>A	ENST00000265272.5	-	2	483	c.16C>T	c.(16-18)Cga>Tga	p.R6*	JAKMIP2_ENST00000507386.1_Nonsense_Mutation_p.R6*|JAKMIP2_ENST00000333010.6_Intron	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	6						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTTATTTCGCCCTTTCTTG	0.458																																						ENST00000265272.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64						c.(16-18)Cga>Tga		janus kinase and microtubule interacting protein 2		G	stop/ARG	0,4406		0,0,2203	139	132	134		16	4.6	1.0	5		134	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	JAKMIP2	NM_014790.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		6/811	147051354	1,13005	2203	4300	6503	SO:0001587	stop_gained	9832					Golgi apparatus		g.chr5:147051354G>A	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.16C>T	5.37:g.147051354G>A	ENSP00000265272:p.Arg6*					JAKMIP2_ENST00000333010.6_Intron|JAKMIP2_ENST00000507386.1_Nonsense_Mutation_p.R6*	p.R6*	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	483	-			6					A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Nonsense_Mutation	SNP	ENST00000265272.5	37	c.16C>T	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	G	40	8.300251	0.98750	0.0	1.16E-4	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000539401	.	.	.	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2769	0.60191	0.0:0.0:0.8411:0.1589	.	.	.	.	X	6	.	ENSP00000265272:R6X	R	-	1	2	JAKMIP2	147031547	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.186000	0.72026	2.483000	0.83821	0.555000	0.69702	CGA		0.458	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		11	47	0	0	0	0.000978	0	11	47					A	147051354	G	A	147051354	4	1	104	1	0	0	0	0	0	1	0	0	7941	1095	38	1	2496	1	JAKMIP2	5	147051354	Nonsense_Mutation	SNP	G	TCGA-DJ-A2Q0-01A-11D-A202-08		147051354	33863906	10	2225											
MCM3	4172	broad.mit.edu	37	chr6	52129524	52129524	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctgtgaggcgattcatgccGattgactgcgcatgagcttc	12	10	2	3	rs111523955		TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr6:52129524G>A	ENST00000229854.7	-	17	2365	c.2289C>T	c.(2287-2289)atC>atT	p.I763I	MCM3_ENST00000419835.2_Silent_p.I717I|MCM3_ENST00000596288.1_Silent_p.I808I			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	763					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GATTCATGCCGATTGACTGCG	0.527																																						ENST00000596288.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(2422-2424)atC>atT		minichromosome maintenance complex component 3							180	166	170					6																	52129524		2203	4300	6503	SO:0001819	synonymous_variant	4172				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr6:52129524G>A	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"minichromosome maintenance deficient (S. cerevisiae) 3", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.2289C>T	6.37:g.52129524G>A						MCM3_ENST00000229854.7_Silent_p.I763I|MCM3_ENST00000419835.2_Silent_p.I717I	p.I808I	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN			17	2451	-	Lung NSC(77;0.0931)		763					B4DWW4|Q92660|Q9BTR3|Q9NUE7	Silent	SNP	ENST00000229854.7	37	c.2424C>T		.	.	.	.	.	.	.	.	.	.	G	8.299	0.819499	0.16607	.	.	ENSG00000112118	ENST00000340349;ENST00000421471	T	0.35789	1.29	5.39	2.66	0.31614	.	.	.	.	.	T	0.27933	0.0688	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.11867	-1.0570	6	0.87932	D	0	-19.3182	5.026	0.14385	0.2594:0.536:0.1348:0.0699	.	.	.	.	W	311;309	ENSP00000407651:R309W	ENSP00000340566:R311W	R	-	1	2	MCM3	52237483	0.996000	0.38824	0.990000	0.47175	0.410000	0.31052	0.463000	0.21972	0.406000	0.25560	-0.867000	0.03001	CGG		0.527	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1			70	128	0	0	0	0.00361	0	70	128					A	52129524	G	A	52129524	2	1	104	1	0	0	0	0	0	0	0	1	9387	1048	37	1		1	MCM3	6	52129524	Silent	SNP	G	TCGA-DJ-A2Q0-01A-11D-A202-08		52129524	118985543	11	2226											
LAMA4	3910	broad.mit.edu	37	chr6	112508668	112508668	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtactttgaggaggtagatgGtggcgttgatttcattcacg	14	5	2	3			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr6:112508668G>C	ENST00000230538.7	-	8	1347	c.950C>G	c.(949-951)aCc>aGc	p.T317S	LAMA4_ENST00000522006.1_Missense_Mutation_p.T310S|LAMA4_ENST00000424408.2_Missense_Mutation_p.T310S|LAMA4_ENST00000389463.4_Missense_Mutation_p.T310S	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	317	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GAGGTAGATGGTGGCGTTGAT	0.537																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(949-951)aCc>aGc		laminin, alpha 4							145	124	131					6																	112508668		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112508668G>C		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.950C>G	6.37:g.112508668G>C	ENSP00000230538:p.Thr317Ser					LAMA4_ENST00000424408.2_Missense_Mutation_p.T310S|LAMA4_ENST00000522006.1_Missense_Mutation_p.T310S|LAMA4_ENST00000389463.4_Missense_Mutation_p.T310S	p.T317S	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	8	1347	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	317			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.950C>G	CCDS43491.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	16.30|16.30|16.30	3.083930|3.083930|3.083930	0.55861|0.55861|0.55861	.|.|.	.|.|.	ENSG00000112769|ENSG00000112769|ENSG00000112769	ENST00000521732|ENST00000368640|ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408;ENST00000454881;ENST00000521398;ENST00000542588	.|.|T;T;T;T;T	.|.|0.30448	.|.|3.02;3.02;3.02;3.02;1.53	5.76|5.76|5.76	5.76|5.76|5.76	0.90799|0.90799|0.90799	.|.|Laminin I (1);	.|.|0.096884	.|.|0.64402	.|.|D	.|.|0.000001	T|T|T	0.29716|0.29716|0.29716	0.0742|0.0742|0.0742	L|L|L	0.46157|0.46157|0.46157	1.445|1.445|1.445	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|P;D	.|.|0.59767	.|.|0.707;0.986	.|.|B;P	.|.|0.53224	.|.|0.427;0.721	T|T|T	0.01010|0.01010|0.01010	-1.1482|-1.1482|-1.1482	5|5|10	.|.|0.16896	.|.|T	.|.|0.51	.|.|.	20.027|20.027|20.027	0.97525|0.97525|0.97525	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|317;310	.|.|Q16363;Q16363-2	.|.|LAMA4_HUMAN;.	Q|A|S	129|121|317;310;310;310;317;317;310	.|.|ENSP00000230538:T317S;ENSP00000429488:T310S;ENSP00000374114:T310S;ENSP00000416470:T310S;ENSP00000430336:T317S	.|.|ENSP00000230538:T317S	H|P|T	-|-|-	3|1|2	2|0|0	LAMA4|LAMA4|LAMA4	112615361|112615361|112615361	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.898000|0.898000|0.898000	0.52572|0.52572|0.52572	7.597000|7.597000|7.597000	0.82733|0.82733|0.82733	2.744000|2.744000|2.744000	0.94065|0.94065|0.94065	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	CAC|CCA|ACC		0.537	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		3	83	0	0	0	0.000248	0	3	83					C	112508668	G	C	112508668	3	2	104	1	0	0	0	0	1	0	0	0	8608	1261	44	4	4649	4	LAMA4	6	112508668	Missense_Mutation	SNP	G	TCGA-DJ-A2Q0-01A-11D-A202-08	60379144	112508668	58606399	12	2227											
RINT1	60561	broad.mit.edu	37	chr7	105190850	105190850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagctacacagtgttcatgGctatcctggcacttttgcta	10	10	1	0			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr7:105190850G>A	ENST00000257700.2	+	9	1481	c.1250G>A	c.(1249-1251)gGc>gAc	p.G417D		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	417	RINT1/TIP20. {ECO:0000255|PROSITE- ProRule:PRU00717}.				G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AGTGTTCATGGCTATCCTGGC	0.418																																						ENST00000257700.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1249-1251)gGc>gAc		RAD50 interactor 1							274	245	255					7																	105190850		2203	4300	6503	SO:0001583	missense	60561				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	g.chr7:105190850G>A	AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.1250G>A	7.37:g.105190850G>A	ENSP00000257700:p.Gly417Asp						p.G417D	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN			9	1481	+			417			RINT1/TIP20.		Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	ENST00000257700.2	37	c.1250G>A	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.477805	0.44044	.	.	ENSG00000135249	ENST00000257700	T	0.29142	1.58	5.36	4.48	0.54585	.	0.148349	0.64402	D	0.000011	T	0.41143	0.1146	M	0.67397	2.05	0.58432	D	0.99999	P	0.37781	0.608	P	0.46685	0.524	T	0.18524	-1.0334	10	0.20519	T	0.43	-3.8483	14.5449	0.68020	0.0709:0.0:0.9291:0.0	.	417	Q6NUQ1	RINT1_HUMAN	D	417	ENSP00000257700:G417D	ENSP00000257700:G417D	G	+	2	0	RINT1	104978086	1.000000	0.71417	0.985000	0.45067	0.965000	0.64279	5.515000	0.67049	1.401000	0.46761	0.563000	0.77884	GGC		0.418	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		12	242	0	0	0	0.00245	0	12	242					A	105190850	G	A	105190850	3	1	104	1	0	0	0	0	1	0	0	0	13376	1203	42	2	1284	2	RINT1	7	105190850	Missense_Mutation	SNP	G	TCGA-DJ-A2Q0-01A-11D-A202-08		105190850	53947813	13	2228											
PTPRZ1	5803	broad.mit.edu	37	chr7	121668634	121668634	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccagactgcacacttttacTtagaggacagtacatcccct	6	13	0	2			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr7:121668634T>G	ENST00000393386.2	+	14	5428	c.5017T>G	c.(5017-5019)Tta>Gta	p.L1673V	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.L813V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1673					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACACTTTTACTTAGAGGACAG	0.383																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(5017-5019)Tta>Gta		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							174	149	158					7																	121668634		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121668634T>G	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.5017T>G	7.37:g.121668634T>G	ENSP00000377047:p.Leu1673Val					PTPRZ1_ENST00000449182.1_Missense_Mutation_p.L813V	p.L1673V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			14	5428	+			1673					A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.5017T>G	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	T	3.120	-0.180751	0.06380	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.77489	0.78;-1.1	5.8	4.63	0.57726	.	0.000000	0.52532	D	0.000067	T	0.57080	0.2029	N	0.13098	0.295	0.38610	D	0.950875	P;B;B	0.43287	0.802;0.063;0.217	B;B;B	0.38428	0.273;0.031;0.189	T	0.55786	-0.8086	10	0.15066	T	0.55	.	9.1209	0.36786	0.0:0.1411:0.0:0.8589	.	812;813;1673	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	V	1673;813	ENSP00000377047:L1673V;ENSP00000410000:L813V	ENSP00000377047:L1673V	L	+	1	2	PTPRZ1	121455870	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	0.704000	0.25661	1.012000	0.39366	0.528000	0.53228	TTA		0.383	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		7	79	0	0	0	0.004482	0	7	79					G	121668634	T	G	121668634	3	3	104	1	0	0	0	0	1	0	0	0	12814	1606	56	5	5071	5	PTPRZ1	7	121668634	Missense_Mutation	SNP	T	TCGA-DJ-A2Q0-01A-11D-A202-08	16477784	121668634	37470029	14	2229											
FASTK	10922	broad.mit.edu	37	chr7	150775088	150775088	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggggtgccacccctgcttccCgagccaggatcctctcaagg	12	16	1	0			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr7:150775088C>A	ENST00000297532.6	-	5	994	c.917G>T	c.(916-918)cGg>cTg	p.R306L	FASTK_ENST00000353841.2_Missense_Mutation_p.R165L|RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000489884.1_5'UTR|FASTK_ENST00000482571.1_Missense_Mutation_p.R279L|FASTK_ENST00000540185.1_3'UTR	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	306					apoptotic signaling pathway (GO:0097190)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|Fas-activated serine/threonine kinase activity (GO:0033867)|protein serine/threonine kinase activity (GO:0004674)			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		CCCTGCTTCCCGAGCCAGGAT	0.577																																						ENST00000297532.6																			0				lung(4)|stomach(2)	6						c.(916-918)cGg>cTg		Fas-activated serine/threonine kinase							96	102	100					7																	150775088		2203	4300	6503	SO:0001583	missense	10922				apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding	g.chr7:150775088C>A		CCDS5918.1, CCDS5919.1, CCDS59088.1	7q35	2006-07-06			ENSG00000164896	ENSG00000164896			24676	protein-coding gene	gene with protein product		606965				7544399, 15572676	Standard	NM_006712		Approved	FAST	uc003wix.2	Q14296	OTTHUMG00000158694	ENST00000297532.6:c.917G>T	7.37:g.150775088C>A	ENSP00000297532:p.Arg306Leu					FASTK_ENST00000540185.1_3'UTR|FASTK_ENST00000489884.1_5'UTR|FASTK_ENST00000482571.1_Missense_Mutation_p.R279L|FASTK_ENST00000353841.2_Missense_Mutation_p.R165L	p.R306L	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)	5	994	-			306					A8K867|F8VTW9|Q59EM8|Q8IVA0	Missense_Mutation	SNP	ENST00000297532.6	37	c.917G>T	CCDS5918.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.364575	0.41902	.	.	ENSG00000164896	ENST00000483105;ENST00000297530;ENST00000353841;ENST00000297532;ENST00000482571	T;T;T	0.46063	0.88;0.88;0.88	5.09	4.14	0.48551	FAST kinase leucine-rich (1);	0.229900	0.30620	N	0.009234	T	0.17577	0.0422	N	0.02539	-0.55	0.80722	D	1	B;B;B	0.24186	0.099;0.003;0.01	B;B;B	0.26614	0.071;0.008;0.008	T	0.06463	-1.0825	10	0.45353	T	0.12	-23.6467	6.6897	0.23163	0.0:0.7224:0.1823:0.0953	.	279;165;306	F8VTW9;Q8IVA0;Q14296	.;.;FASTK_HUMAN	L	306;306;165;306;279	ENSP00000324817:R165L;ENSP00000297532:R306L;ENSP00000418516:R279L	ENSP00000297530:R306L	R	-	2	0	FASTK	150406021	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	0.868000	0.27982	2.531000	0.85337	0.650000	0.86243	CGG		0.577	FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351832.2	NM_006712		4	181	1	0	0.00116845	0.001168	0.00267394	4	181					A	150775088	C	A	150775088	3	1	104	1	0	0	0	0	1	0	0	0	5684	652	23	4	756	4	FASTK	7	150775088	Missense_Mutation	SNP	C	TCGA-DJ-A2Q0-01A-11D-A202-08	29106454	150775088	8363575	15	2230											
ADCY8	114	broad.mit.edu	37	chr8	131848585	131848585	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgtagacggtctcagtgagCagggcatagatggcaatcat	14	8	2	3			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr8:131848585C>A	ENST00000286355.5	-	12	4705	c.2613G>T	c.(2611-2613)ctG>ctT	p.L871L	ADCY8_ENST00000377928.3_Silent_p.L740L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	871					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)|cellular response to glucagon stimulus (GO:0071377)|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)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TCTCAGTGAGCAGGGCATAGA	0.557										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(2611-2613)ctG>ctT		adenylate cyclase 8 (brain)							165	127	140					8																	131848585		2203	4300	6503	SO:0001819	synonymous_variant	114				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|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131848585C>A	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2613G>T	8.37:g.131848585C>A		HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Silent_p.L740L	p.L871L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		12	4705	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		871						Silent	SNP	ENST00000286355.5	37	c.2613G>T	CCDS6363.1																																																																																				0.557	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			26	25	1	0	7.92952e-12	0.003954	2.05133e-11	26	25					A	131848585	C	A	131848585	2	1	104	1	0	0	0	0	0	0	0	1	300	697	25	4		4	ADCY8	8	131848585	Silent	SNP	C	TCGA-DJ-A2Q0-01A-11D-A202-08		131848585	14515437	16	2231											
C10orf28	27291	broad.mit.edu	37	chr10	99968514	99968514	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aaactgataccaaggttttgGagatactatatgagtttcct	8	6	0	3			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr10:99968514G>T	ENST00000298999.3	+	5	946	c.643G>T	c.(643-645)Gag>Tag	p.E215*	R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370584.3_Nonsense_Mutation_p.E215*|R3HCC1L_ENST00000370586.2_Intron	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	215							nucleotide binding (GO:0000166)										CAAGGTTTTGGAGATACTATA	0.358																																						ENST00000298999.3																			0											c.(643-645)Gag>Tag		R3H domain and coiled-coil containing 1-like							59	61	61					10																	99968514		2203	4300	6503	SO:0001587	stop_gained	27291							g.chr10:99968514G>T	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.643G>T	10.37:g.99968514G>T	ENSP00000298999:p.Glu215*					R3HCC1L_ENST00000370584.3_Nonsense_Mutation_p.E215*|R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370586.2_Intron	p.E215*	NM_014472.4	NP_055287.4					5	946	+								O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Nonsense_Mutation	SNP	ENST00000298999.3	37	c.643G>T	CCDS31267.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.224136	0.58668	.	.	ENSG00000166024	ENST00000370584;ENST00000538495;ENST00000298999	.	.	.	5.56	3.71	0.42584	.	0.293965	0.29253	N	0.012689	.	.	.	.	.	.	0.21020	N	0.999807	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.9428	8.471	0.32986	0.1789:0.0:0.8211:0.0	.	.	.	.	X	215	.	.	E	+	1	0	C10orf28	99958504	0.106000	0.21978	0.001000	0.08648	0.017000	0.09413	2.022000	0.41030	0.719000	0.32188	0.655000	0.94253	GAG		0.358	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049764.1	NM_014472		23	22	1	0	5.35356e-11	0.00278	1.35548e-10	23	22					T	99968514	G	T	99968514	4	4	104	1	0	0	0	0	0	1	0	0	1601	1175	41	4	645	4	C10orf28	10	99968514	Nonsense_Mutation	SNP	G	TCGA-DJ-A2Q0-01A-11D-A202-08		99968514	35566233	17	2232											
TACC2	10579	broad.mit.edu	37	chr10	123843326	123843327	+	In_Frame_Ins	INS	-	-	GGATCA													ctattgctgtagaagaacctINSggatcatcatccagggaatc							TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr10:123843326_123843327insGGATCA	ENST00000369005.1	+	4	1651_1652	c.1311_1312insGGATCA	c.(1312-1314)gga>GGATCAgga	p.438_438G>GSG	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_In_Frame_Ins_p.438_438G>GSG|TACC2_ENST00000515603.1_In_Frame_Ins_p.438_438G>GSG|TACC2_ENST00000515273.1_In_Frame_Ins_p.438_438G>GSG|TACC2_ENST00000334433.3_In_Frame_Ins_p.438_438G>GSG	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	438					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TAGAAGAACCTGGATCATCATC	0.545																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(1309-1314)ccgatc>ccGGATCAgatc		transforming, acidic coiled-coil containing protein 2																																				SO:0001652	inframe_insertion	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123843326_123843327insGGATCA	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.1312_1317dupGGATCA	10.37:g.123843327_123843332dupGGATCA	Exception_encountered					TACC2_ENST00000515603.1_In_Frame_Ins_p.437_438PI>PDQI|TACC2_ENST00000515273.1_In_Frame_Ins_p.437_438PI>PDQI|TACC2_ENST00000334433.3_In_Frame_Ins_p.437_438PI>PDQI|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_In_Frame_Ins_p.437_438PI>PDQI	p.437_438PI>PDQI	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	1651_1652	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	437					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	In_Frame_Ins	INS	ENST00000369005.1	37	c.1311_1312insGGATCA	CCDS7626.1																																																																																				0.545	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			42	111						42	111	---	---	---	---	GGATCA	123843327	-	GGATCA	123843326	7	5	104	1	0	1	1	0	0	0	0	0	15499	1567	55	0	1321	0	TACC2	10	123843326	In_Frame_Ins	INS	-	TCGA-DJ-A2Q0-01A-11D-A202-08	23874812	123843326	11691421	18	2233											
APBB1	322	broad.mit.edu	37	chr11	6422860	6422860	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttggcaggtgcctcacagcGaaacacgtggcacttgagca	12	12	1	1	rs184224900		TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr11:6422860G>A	ENST00000609360.1	-	10	1546	c.1447C>T	c.(1447-1449)Cgc>Tgc	p.R483C	APBB1_ENST00000608394.1_Missense_Mutation_p.R224C|APBB1_ENST00000609331.1_Missense_Mutation_p.R248C|APBB1_ENST00000311051.3_Missense_Mutation_p.R481C|APBB1_ENST00000389906.2_Missense_Mutation_p.R483C|APBB1_ENST00000608645.1_Missense_Mutation_p.R224C|APBB1_ENST00000608704.1_Missense_Mutation_p.R224C|APBB1_ENST00000529519.1_Missense_Mutation_p.R8C|APBB1_ENST00000299402.6_Missense_Mutation_p.R481C|APBB1_ENST00000530885.1_Missense_Mutation_p.R261C|APBB1_ENST00000608655.1_Missense_Mutation_p.R263C	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	483	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GCCTCACAGCGAAACACGTGG	0.577													G|||	1	0.000199681	0	0.0014	5008	,	,		19191	0		0	False		,,,				2504	0				GBM(147;1810 2556 5672 39622)	ENST00000389906.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(1447-1449)Cgc>Tgc		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)							178	124	142					11																	6422860		2201	4296	6497	SO:0001583	missense	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6422860G>A	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.1447C>T	11.37:g.6422860G>A	ENSP00000477213:p.Arg483Cys					APBB1_ENST00000533407.1_Missense_Mutation_p.R222C|APBB1_ENST00000530885.1_Missense_Mutation_p.R261C|APBB1_ENST00000524626.1_5'UTR|APBB1_ENST00000311051.3_Missense_Mutation_p.R481C|APBB1_ENST00000299402.6_Missense_Mutation_p.R481C	p.R483C	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	9	1546	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	483			PID 1.		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37	c.1447C>T		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	19.68	3.872086	0.72180	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906;ENST00000539758;ENST00000536523;ENST00000544288;ENST00000530885;ENST00000533407	T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07	4.15	4.15	0.48705	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.64402	D	0.000001	T	0.40956	0.1138	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.89917	1.0;0.982;0.993;0.997	D;P;P;P	0.91635	0.999;0.614;0.78;0.828	T	0.26744	-1.0094	10	0.72032	D	0.01	-9.0566	9.2222	0.37384	0.0:0.0:0.7838:0.2162	.	86;483;261;481	B7Z4M4;O00213;B7Z2Y0;O00213-2	.;APBB1_HUMAN;.;.	C	481;481;483;332;224;248;261;222	ENSP00000299402:R481C;ENSP00000311912:R481C;ENSP00000374556:R483C;ENSP00000433338:R261C;ENSP00000437114:R222C	ENSP00000299402:R481C	R	-	1	0	APBB1	6379436	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.409000	0.80053	2.137000	0.66172	0.591000	0.81541	CGC		0.577	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		7	84	0	0	0	0.000443	0	7	84					A	6422860	G	A	6422860	3	1	104	1	0	0	0	0	1	0	0	0	759	1058	37	1	709	1	APBB1	11	6422860	Missense_Mutation	SNP	G	TCGA-DJ-A2Q0-01A-11D-A202-08		6422860	128583656	19	2234											
EED	8726	broad.mit.edu	37	chr11	85977149	85977149	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgatcttttgggtgaaaaaAtaatgtcctgtggtatggat	11	3	1	2			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr11:85977149A>G	ENST00000263360.6	+	8	1437	c.751A>G	c.(751-753)Ata>Gta	p.I251V	EED_ENST00000351625.6_Missense_Mutation_p.I251V|EED_ENST00000327320.4_Missense_Mutation_p.I251V|EED_ENST00000528180.1_Intron	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	251	Interaction with EZH2. {ECO:0000250}.|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K27 methylation (GO:0061087)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				GGGTGAAAAAATAATGTCCTG	0.284																																						ENST00000263360.6																			0				haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21						c.(751-753)Ata>Gta		embryonic ectoderm development							84	93	90					11																	85977149		2202	4293	6495	SO:0001583	missense	8726				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding	g.chr11:85977149A>G	AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266		"WD repeat domain containing"	3188	protein-coding gene	gene with protein product	"WD protein associating with integrin cytoplasmic tails 1"	605984				9765275, 9806832	Standard	NM_003797		Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000263360.6:c.751A>G	11.37:g.85977149A>G	ENSP00000263360:p.Ile251Val					EED_ENST00000351625.6_Missense_Mutation_p.I251V|EED_ENST00000528180.1_Intron|EED_ENST00000327320.4_Missense_Mutation_p.I251V	p.I251V	NM_003797.3	NP_003788.2	O75530	EED_HUMAN			8	1437	+		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)	251			Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.		A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	Missense_Mutation	SNP	ENST00000263360.6	37	c.751A>G	CCDS8273.1	.	.	.	.	.	.	.	.	.	.	A	16.63	3.177282	0.57692	.	.	ENSG00000074266	ENST00000263360;ENST00000351625;ENST00000327320;ENST00000533228	T;T;T	0.61392	1.52;1.52;0.11	5.36	5.36	0.76844	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	T	0.58566	0.2131	L	0.28649	0.875	0.80722	D	1	B;P;B	0.39862	0.253;0.692;0.079	B;P;B	0.51266	0.121;0.664;0.112	T	0.55179	-0.8181	9	.	.	.	-14.8347	15.658	0.77158	1.0:0.0:0.0:0.0	.	251;251;251	O75530-3;O75530-2;O75530	.;.;EED_HUMAN	V	251;251;251;44	ENSP00000263360:I251V;ENSP00000338186:I251V;ENSP00000315587:I251V	.	I	+	1	0	EED	85654797	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.114000	0.94329	2.158000	0.67659	0.460000	0.39030	ATA		0.284	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393733.1	NM_003797		5	86	0	0	0	0.000602	0	5	86					G	85977149	A	G	85977149	3	3	104	1	0	0	0	0	1	0	0	0	4922	101	4	3	781	3	EED	11	85977149	Missense_Mutation	SNP	A	TCGA-DJ-A2Q0-01A-11D-A202-08	79554289	85977149	49029367	20	2235											
ST8SIA1	6489	broad.mit.edu	37	chr12	22487009	22487009	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgcacgatctctttctcgTtgggcagccggtagacgggg	14	12	2	1	rs199598750		TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr12:22487009T>C	ENST00000396037.4	-	1	639	c.158A>G	c.(157-159)aAc>aGc	p.N53S	ST8SIA1_ENST00000536558.1_Intron|ST8SIA1_ENST00000539510.1_5'UTR|ST8SIA1_ENST00000381424.3_Missense_Mutation_p.N53S|ST8SIA1_ENST00000404299.3_Missense_Mutation_p.N53S	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	53					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						CTCTTTCTCGTTGGGCAGCCG	0.662																																						ENST00000396037.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						c.(157-159)aAc>aGc		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1		T	SER/ASN	0,4406		0,0,2203	87	84	85		158	4.3	1.0	12		85	1,8599	1.2+/-3.3	0,1,4299	no	missense	ST8SIA1	NM_003034.3	46	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	53/357	22487009	1,13005	2203	4300	6503	SO:0001583	missense	6489				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr12:22487009T>C	L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	2.4.99.8	"Sialyltransferases"	10869	protein-coding gene	gene with protein product	"ST8Sia I"	601123	"sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A"	SIAT8, SIAT8A		7901202	Standard	NM_003034		Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000396037.4:c.158A>G	12.37:g.22487009T>C	ENSP00000379353:p.Asn53Ser					ST8SIA1_ENST00000404299.3_Missense_Mutation_p.N53S|ST8SIA1_ENST00000536558.1_Intron|ST8SIA1_ENST00000539510.1_5'UTR|ST8SIA1_ENST00000381424.3_Missense_Mutation_p.N53S	p.N53S	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN			1	639	-			53					A8K4H6|Q17RL0|Q6PZN5|Q93064	Missense_Mutation	SNP	ENST00000396037.4	37	c.158A>G	CCDS8697.1	.	.	.	.	.	.	.	.	.	.	T	5.178	0.218492	0.09810	0.0	1.16E-4	ENSG00000111728	ENST00000396037;ENST00000541868;ENST00000404299;ENST00000381424	T;T	0.41400	1.99;1.0	4.26	4.26	0.50523	.	0.576822	0.19756	N	0.106763	T	0.29190	0.0726	N	0.25647	0.755	0.80722	D	1	B	0.10296	0.003	B	0.04013	0.001	T	0.06917	-1.0800	10	0.27785	T	0.31	-2.4114	11.5322	0.50616	0.0:0.0:0.0:1.0	.	53	Q92185	SIA8A_HUMAN	S	53;30;53;53	ENSP00000379353:N53S;ENSP00000440292:N30S	ENSP00000261197:N53S	N	-	2	0	ST8SIA1	22378276	0.998000	0.40836	0.998000	0.56505	0.990000	0.78478	2.263000	0.43293	1.887000	0.54652	0.460000	0.39030	AAC		0.662	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402245.2	NM_003034		4	130	0	0	0	0.001168	0	4	130					C	22487009	T	C	22487009	3	2	104	1	0	0	0	0	1	0	0	0	15230	1725	60	3	932	3	ST8SIA1	12	22487009	Missense_Mutation	SNP	T	TCGA-DJ-A2Q0-01A-11D-A202-08		22487009	111364886	21	2236											
AQP6	363	broad.mit.edu	37	chr12	50367285	50367285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggctgcccagctggtggGggccacggtgggggctgctc	20	11	0	0	rs370418802		TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr12:50367285G>A	ENST00000315520.5	+	1	666	c.329G>A	c.(328-330)gGg>gAg	p.G110E	AQP6_ENST00000551733.1_Intron	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	110					anion transport (GO:0006820)|excretion (GO:0007588)|odontogenesis (GO:0042476)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	integral component of plasma membrane (GO:0005887)|transport vesicle membrane (GO:0030658)	anion channel activity (GO:0005253)|water channel activity (GO:0015250)			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						CAGCTGGTGGGGGCCACGGTG	0.677																																						ENST00000315520.5																			0				endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						c.(328-330)gGg>gAg		aquaporin 6, kidney specific		G	GLU/GLY	0,4402		0,0,2201	21	21	21		329	4.6	1.0	12		21	1,8597		0,1,4298	no	missense	AQP6	NM_001652.3	98	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	110/283	50367285	1,12999	2201	4299	6500	SO:0001583	missense	363				excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity	g.chr12:50367285G>A	AL137716	CCDS31798.1	12q13	2005-09-20			ENSG00000086159	ENSG00000086159		"Ion channels / Aquaporins"	639	protein-coding gene	gene with protein product		601383		AQP2L		8812490	Standard	XM_006719375		Approved		uc001rvr.1	Q13520	OTTHUMG00000133548	ENST00000315520.5:c.329G>A	12.37:g.50367285G>A	ENSP00000320247:p.Gly110Glu					AQP6_ENST00000551733.1_Intron	p.G110E	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN			1	666	+			110						Missense_Mutation	SNP	ENST00000315520.5	37	c.329G>A	CCDS31798.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.608024	0.87258	0.0	1.16E-4	ENSG00000086159	ENST00000315520	D	0.99259	-5.64	4.57	4.57	0.56435	Aquaporin-like (2);	0.109604	0.37304	N	0.002147	D	0.99760	0.9903	H	0.99877	4.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96558	0.9413	10	0.87932	D	0	-11.6261	16.4987	0.84252	0.0:0.0:1.0:0.0	.	110	Q13520	AQP6_HUMAN	E	110	ENSP00000320247:G110E	ENSP00000320247:G110E	G	+	2	0	AQP6	48653552	1.000000	0.71417	0.988000	0.46212	0.936000	0.57629	9.476000	0.97823	2.260000	0.74910	0.491000	0.48974	GGG		0.677	AQP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257528.2	NM_001652, NM_053286		7	29	0	0	0	0.00308	0	7	29					A	50367285	G	A	50367285	3	1	104	1	0	0	0	0	1	0	0	0	830	1232	43	2	331	2	AQP6	12	50367285	Missense_Mutation	SNP	G	TCGA-DJ-A2Q0-01A-11D-A202-08	27880276	50367285	83484610	22	2237											
FSCB	84075	broad.mit.edu	37	chr14	44973729	44973729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgactacagttcaggaggaCgttgttttaattctatatga	9	6	2	2			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr14:44973729C>T	ENST00000340446.4	-	1	2753	c.2462G>A	c.(2461-2463)cGt>cAt	p.R821H	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	821						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TTCAGGAGGACGTTGTTTTAA	0.388																																						ENST00000340446.4																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(2461-2463)cGt>cAt		fibrous sheath CABYR binding protein							56	60	59					14																	44973729		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44973729C>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"chromosome 14 open reading frame 155"	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.2462G>A	14.37:g.44973729C>T	ENSP00000344579:p.Arg821His						p.R821H	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	2753	-			821					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.2462G>A	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043629	0.36085	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.15952	2.38	4.23	-2.83	0.05769	.	.	.	.	.	T	0.08492	0.0211	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.36529	-0.9744	9	0.87932	D	0	4.2172	0.1932	0.00137	0.2638:0.2604:0.2194:0.2563	.	821	Q5H9T9	FSCB_HUMAN	H	821;714	ENSP00000344579:R821H	ENSP00000344579:R821H	R	-	2	0	FSCB	44043479	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.540000	0.06106	-0.712000	0.04988	-3.305000	0.00045	CGT		0.388	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		4	52	0	0	0	0.000602	0	4	52					T	44973729	C	T	44973729	3	4	104	1	0	0	0	0	1	0	0	0	6066	536	19	1	19	1	FSCB	14	44973729	Missense_Mutation	SNP	C	TCGA-DJ-A2Q0-01A-11D-A202-08		44973729	62375811	23	2238											
CASC4	113201	broad.mit.edu	37	chr15	44581275	44581275	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctggccgcctgccctctctCgtgctggtggtgctgctggt	15	14	1	0	rs372220445		TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr15:44581275C>T	ENST00000345795.2	+	1	318	c.48C>T	c.(46-48)ctC>ctT	p.L16L	CASC4_ENST00000299957.6_Silent_p.L16L|CASC4_ENST00000429162.2_3'UTR|CASC4_ENST00000360824.3_Silent_p.L16L	NM_177974.2	NP_816929.1	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	16						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		TGCCCTCTCTCGTGCTGGTGG	0.677																																						ENST00000299957.6																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17						c.(46-48)ctC>ctT		cancer susceptibility candidate 4		C	,	1,4395		0,1,2197	48	48	48		48,48	-1.1	1.0	15		48	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous	CASC4	NM_138423.3,NM_177974.2	,	0,1,6495	TT,TC,CC		0.0,0.0227,0.0077	,	16/437,16/381	44581275	1,12991	2198	4298	6496	SO:0001819	synonymous_variant	113201					integral to membrane		g.chr15:44581275C>T	AF103804	CCDS10108.1, CCDS10109.1	15q15.1	2010-11-24			ENSG00000166734	ENSG00000166734			24892	protein-coding gene	gene with protein product						10497265	Standard	NM_138423		Approved	H63, DKFZp459F1927	uc001ztp.3	Q6P4E1	OTTHUMG00000131133	ENST00000345795.2:c.48C>T	15.37:g.44581275C>T						CASC4_ENST00000360824.3_Silent_p.L16L|CASC4_ENST00000429162.2_3'UTR|CASC4_ENST00000345795.2_Silent_p.L16L	p.L16L	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)	1	347	+		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)	16					B4DPZ6|G5E934|Q6UY45|Q96EM1	Silent	SNP	ENST00000345795.2	37	c.48C>T	CCDS10109.1																																																																																				0.677	CASC4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253816.1	NM_138423		42	58	0	0	0	0.003214	0	42	58					T	44581275	C	T	44581275	2	4	104	1	0	0	0	0	0	0	0	1	2662	871	31	1		1	CASC4	15	44581275	Silent	SNP	C	TCGA-DJ-A2Q0-01A-11D-A202-08		44581275	57950117	24	2239											
CES7	221223	broad.mit.edu	37	chr16	55886942	55886942	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatactgaggcgggatgtgcTgtaaaaatatcgtagtccta	11	6	0	1			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr16:55886942T>A	ENST00000290567.9	-	10	1247		c.e10-2		CES5A_ENST00000520435.1_Splice_Site|CES5A_ENST00000518005.1_Splice_Site|CES5A_ENST00000521992.1_Splice_Site|CES5A_ENST00000541580.1_Splice_Site|CES5A_ENST00000319165.9_Splice_Site	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A							extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CGGGATGTGCTGTAAAAATAT	0.458																																						ENST00000521992.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.e11-2		carboxylesterase 5A							95	89	91					16																	55886942		2198	4300	6498	SO:0001630	splice_region_variant	221223					extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55886942T>A	AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"Carboxylesterases"	26459	protein-coding gene	gene with protein product			"carboxylesterase 7"	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.1126-2A>T	16.37:g.55886942T>A						CES5A_ENST00000319165.9_Splice_Site|CES5A_ENST00000520435.1_Splice_Site|CES5A_ENST00000518005.1_Splice_Site|CES5A_ENST00000290567.9_Splice_Site|CES5A_ENST00000541580.1_Splice_Site		NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN			11	1358	-								B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Splice_Site	SNP	ENST00000290567.9	37		CCDS45490.1	.	.	.	.	.	.	.	.	.	.	T	13.77	2.337228	0.41398	.	.	ENSG00000159398	ENST00000521992;ENST00000319165;ENST00000518005;ENST00000290567;ENST00000520435;ENST00000541580	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.094	0.59180	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CES5A	54444443	0.999000	0.42202	0.642000	0.29436	0.014000	0.08584	4.226000	0.58606	1.980000	0.57719	0.369000	0.22263	.		0.458	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024	Intron	5	78	0	0	0	0.001168	0	5	78					A	55886942	T	A	55886942	5	1	104	1	0	0	0	0	0	0	1	0	3272	1594	55	5	619	5	CES7	16	55886942	Splice_Site	SNP	T	TCGA-DJ-A2Q0-01A-11D-A202-08		55886942	34467811	25	2240											
AP1G1	164	broad.mit.edu	37	chr16	71768593	71768593	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atgctgctgctaggagacaaGagctgcagctggaatgtcta	13	8	1	2			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr16:71768593G>C	ENST00000299980.4	-	22	2727	c.2286C>G	c.(2284-2286)ctC>ctG	p.L762L	AP1G1_ENST00000423132.2_Silent_p.L765L|AP1G1_ENST00000393512.3_Silent_p.L765L|AP1G1_ENST00000569748.1_Silent_p.L762L|AP1G1_ENST00000564155.1_Silent_p.L187L|AP1G1_ENST00000433195.2_Silent_p.L785L	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	762	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				TAGGAGACAAGAGCTGCAGCT	0.463																																						ENST00000299980.4																			0				breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28						c.(2284-2286)ctC>ctG		adaptor-related protein complex 1, gamma 1 subunit							183	181	182					16																	71768593		2198	4300	6498	SO:0001819	synonymous_variant	164				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity	g.chr16:71768593G>C	Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"gamma1-adaptin"	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.2286C>G	16.37:g.71768593G>C						AP1G1_ENST00000393512.3_Silent_p.L765L|AP1G1_ENST00000433195.2_Silent_p.L785L|AP1G1_ENST00000423132.2_Silent_p.L765L|AP1G1_ENST00000569748.1_Silent_p.L762L|AP1G1_ENST00000564155.1_Silent_p.L187L	p.L762L	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN			22	2727	-		Ovarian(137;0.125)	762			GAE.		O75709|O75842|Q9UG09|Q9Y3U4	Silent	SNP	ENST00000299980.4	37	c.2286C>G	CCDS32480.1																																																																																				0.463	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1			15	316	0	0	0	0.00245	0	15	316					C	71768593	G	C	71768593	2	2	104	1	0	0	0	0	0	0	0	1	732	929	33	4		4	AP1G1	16	71768593	Silent	SNP	G	TCGA-DJ-A2Q0-01A-11D-A202-08	15881651	71768593	18586160	26	2241											
OTOP2	92736	broad.mit.edu	37	chr17	72926756	72926756	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgggactcaccaccttggtCagcctgagcggctccatcat	10	14	3	1			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr17:72926756C>A	ENST00000580223.1	+	5	1056	c.1026C>A	c.(1024-1026)gtC>gtA	p.V342V	OTOP2_ENST00000331427.4_Silent_p.V342V			Q7RTS6	OTOP2_HUMAN	otopetrin 2	342						integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					CCACCTTGGTCAGCCTGAGCG	0.612																																						ENST00000331427.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39						c.(1024-1026)gtC>gtA		otopetrin 2							55	51	52					17																	72926756		2203	4300	6503	SO:0001819	synonymous_variant	92736					integral to membrane		g.chr17:72926756C>A	BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.1026C>A	17.37:g.72926756C>A						OTOP2_ENST00000580223.1_Silent_p.V342V	p.V342V	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN			6	1118	+	all_lung(278;0.172)|Lung NSC(278;0.207)		342						Silent	SNP	ENST00000580223.1	37	c.1026C>A	CCDS11708.1																																																																																				0.612	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1	NM_178160		15	55	1	0	1.5739e-10	0.004007	3.90195e-10	15	55					A	72926756	C	A	72926756	2	1	104	1	0	0	0	0	0	0	0	1	11306	813	29	4		4	OTOP2	17	72926756	Silent	SNP	C	TCGA-DJ-A2Q0-01A-11D-A202-08		72926756	8268454	27	2242											
FOXK2	3607	broad.mit.edu	37	chr17	80544992	80544992	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacgctcggcactgccagcCggatcattcagacggcacag	11	16	2	1			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr17:80544992C>T	ENST00000335255.5	+	8	1804	c.1630C>T	c.(1630-1632)Cgg>Tgg	p.R544W	RP13-638C3.3_ENST00000575085.1_RNA	NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	544					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)			CACTGCCAGCCGGATCATTCA	0.488																																						ENST00000335255.5																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17						c.(1630-1632)Cgg>Tgg		forkhead box K2							84	79	81					17																	80544992		2203	4300	6503	SO:0001583	missense	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.chr17:80544992C>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.1630C>T	17.37:g.80544992C>T	ENSP00000335677:p.Arg544Trp						p.R544W	NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)		8	1804	+	Breast(20;0.00106)|all_neural(118;0.0952)		544					A6NEP5|Q13622|Q13623|Q13624	Missense_Mutation	SNP	ENST00000335255.5	37	c.1630C>T	CCDS11813.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735131	0.69189	.	.	ENSG00000141568	ENST00000535184;ENST00000335255	D	0.95918	-3.85	5.18	4.21	0.49690	.	0.000000	0.85682	D	0.000000	D	0.96056	0.8715	L	0.43923	1.385	0.53688	D	0.999972	D;D	0.89917	1.0;1.0	D;D	0.77557	0.977;0.99	D	0.95235	0.8346	10	0.37606	T	0.19	.	13.9329	0.64007	0.0:0.927:0.0:0.073	.	544;544	Q01167;Q01167-2	FOXK2_HUMAN;.	W	540;544	ENSP00000335677:R544W	ENSP00000335677:R544W	R	+	1	2	FOXK2	78138281	1.000000	0.71417	0.883000	0.34634	0.443000	0.32047	5.238000	0.65366	1.407000	0.46875	0.655000	0.94253	CGG		0.488	FOXK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277099.2	NM_181430		43	82	0	0	0	0.00361	0	43	82					T	80544992	C	T	80544992	3	4	104	1	0	0	0	0	1	0	0	0	6015	643	23	1	1660	1	FOXK2	17	80544992	Missense_Mutation	SNP	C	TCGA-DJ-A2Q0-01A-11D-A202-08	7618236	80544992	650218	28	2243											
GNAL	2774	broad.mit.edu	37	chr18	11752905	11752905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagatgaggatcctgcacGtcaatgggtttaatcccgag	11	9	1	2			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr18:11752905G>A	ENST00000423027.3	+	2	520	c.199G>A	c.(199-201)Gtc>Atc	p.V67I	GNAL_ENST00000590972.1_3'UTR|GNAL_ENST00000334049.6_Missense_Mutation_p.V144I|GNAL_ENST00000269162.5_Missense_Mutation_p.V67I|GNAL_ENST00000535121.1_Missense_Mutation_p.V67I			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	67					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						GATCCTGCACGTCAATGGGTT	0.468																																						ENST00000334049.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						c.(430-432)Gtc>Atc		guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type							160	140	147					18																	11752905		2203	4300	6503	SO:0001583	missense	2774				activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr18:11752905G>A	AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.199G>A	18.37:g.11752905G>A	ENSP00000408489:p.Val67Ile					GNAL_ENST00000535121.1_Missense_Mutation_p.V67I|GNAL_ENST00000423027.3_Missense_Mutation_p.V67I|GNAL_ENST00000269162.5_Missense_Mutation_p.V67I	p.V144I	NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN			2	1038	+			67					B7ZA26|Q86XU3	Missense_Mutation	SNP	ENST00000423027.3	37	c.430G>A	CCDS11852.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681490	0.68042	.	.	ENSG00000141404	ENST00000540217;ENST00000334049;ENST00000535121;ENST00000269162;ENST00000423027	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	5.17	5.17	0.71159	G protein alpha subunit, helical insertion (1);	0.113555	0.64402	D	0.000014	D	0.86510	0.5950	L	0.42686	1.345	0.80722	D	1	B;B	0.16603	0.018;0.011	B;B	0.17433	0.018;0.013	T	0.82566	-0.0393	10	0.56958	D	0.05	.	18.8613	0.92273	0.0:0.0:1.0:0.0	.	67;144	P38405;Q86XU3	GNAL_HUMAN;.	I	6;144;67;67;67	ENSP00000334051:V144I;ENSP00000439023:V67I;ENSP00000269162:V67I;ENSP00000408489:V67I	ENSP00000269162:V67I	V	+	1	0	GNAL	11742905	1.000000	0.71417	0.976000	0.42696	0.968000	0.65278	9.150000	0.94667	2.672000	0.90937	0.563000	0.77884	GTC		0.468	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254561.2	NM_182978, NM_002071		14	22	0	0	0	0.00245	0	14	22					A	11752905	G	A	11752905	3	1	104	1	0	0	0	0	1	0	0	0	6507	1145	40	1	585	1	GNAL	18	11752905	Missense_Mutation	SNP	G	TCGA-DJ-A2Q0-01A-11D-A202-08		11752905	66324343	29	2244											
CYP2A13	1553	broad.mit.edu	37	chr19	41594528	41594528	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaactacctgcagctgaacaCagagcagatgtacaactccc	7	13	0	3			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr19:41594528C>G	ENST00000330436.3	+	1	152	c.152C>G	c.(151-153)aCa>aGa	p.T51R		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	51					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	CAGCTGAACACAGAGCAGATG	0.602																																						ENST00000330436.3																			0				breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42						c.(151-153)aCa>aGa		cytochrome P450, family 2, subfamily A, polypeptide 13	Clomipramine(DB01242)|Nicotine(DB00184)						100	89	93					19																	41594528		2203	4300	6503	SO:0001583	missense	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41594528C>G	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"Cytochrome P450s"	2608	protein-coding gene	gene with protein product		608055	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.152C>G	19.37:g.41594528C>G	ENSP00000332679:p.Thr51Arg						p.T51R	NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN			1	152	+			51					Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	ENST00000330436.3	37	c.152C>G	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	.	10.92	1.488059	0.26686	.	.	ENSG00000197838	ENST00000330436	T	0.67698	-0.28	3.43	1.13	0.20643	.	0.384091	0.26062	U	0.026574	T	0.48409	0.1498	N	0.03917	-0.325	0.21652	N	0.999605	P	0.52463	0.953	P	0.58577	0.841	T	0.41070	-0.9529	10	0.20519	T	0.43	.	4.0105	0.09621	0.0:0.5723:0.1974:0.2303	.	51	Q16696	CP2AD_HUMAN	R	51	ENSP00000332679:T51R	ENSP00000332679:T51R	T	+	2	0	CYP2A13	46286368	0.000000	0.05858	0.535000	0.28026	0.944000	0.59088	-0.078000	0.11375	0.247000	0.21414	0.444000	0.29173	ACA		0.602	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		11	121	0	0	0	0.000673	0	11	121					G	41594528	C	G	41594528	3	3	104	1	0	0	0	0	1	0	0	0	4161	478	17	4	154	4	CYP2A13	19	41594528	Missense_Mutation	SNP	C	TCGA-DJ-A2Q0-01A-11D-A202-08		41594528	17534455	30	2245											
IGFL4	444882	broad.mit.edu	37	chr19	46543657	46543657	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacctgggcgctggctggcAtagccacagtctaagatctg	13	12	2	1			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr19:46543657A>G	ENST00000377697.1	-	3	141	c.88T>C	c.(88-90)Tgc>Cgc	p.C30R	IGFL4_ENST00000601672.1_5'UTR|IGFL4_ENST00000595006.1_5'UTR	NM_001002923.1	NP_001002923.1	Q6B9Z1	IGFL4_HUMAN	IGF-like family member 4	30						extracellular space (GO:0005615)				cervix(1)|kidney(1)|lung(1)	3		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		GCTGGCTGGCATAGCCACAGT	0.602																																						ENST00000377697.1																			0				cervix(1)|kidney(1)|lung(1)	3						c.(88-90)Tgc>Cgc		IGF-like family member 4							86	77	80					19																	46543657		2203	4300	6503	SO:0001583	missense	444882					extracellular region		g.chr19:46543657A>G	AY672114	CCDS33057.1	19q13.32	2006-07-14							32931	protein-coding gene	gene with protein product		610547				14702039	Standard	NM_001002923		Approved		uc002pdy.1	Q6B9Z1		ENST00000377697.1:c.88T>C	19.37:g.46543657A>G	ENSP00000366926:p.Cys30Arg					IGFL4_ENST00000595006.1_5'UTR|IGFL4_ENST00000601672.1_5'UTR	p.C30R	NM_001002923.1	NP_001002923.1	Q6B9Z1	IGFL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)	3	141	-		all_neural(266;0.113)|Ovarian(192;0.127)	30						Missense_Mutation	SNP	ENST00000377697.1	37	c.88T>C	CCDS33057.1	.	.	.	.	.	.	.	.	.	.	A	13.97	2.396001	0.42512	.	.	ENSG00000204869	ENST00000377697	T	0.60424	0.19	2.29	1.22	0.21188	.	0.000000	0.35772	U	0.002998	T	0.55242	0.1908	L	0.42245	1.32	0.09310	N	0.999999	D	0.65815	0.995	P	0.55011	0.766	T	0.47420	-0.9119	10	0.87932	D	0	.	5.4081	0.16332	0.706:0.294:0.0:0.0	.	30	Q6B9Z1	IGFL4_HUMAN	R	30	ENSP00000366926:C30R	ENSP00000366926:C30R	C	-	1	0	IGFL4	51235497	0.000000	0.05858	0.001000	0.08648	0.567000	0.35839	0.493000	0.22451	0.327000	0.23409	0.314000	0.21332	TGC		0.602	IGFL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461698.1	NM_001002923		4	91	0	0	0	0.000602	0	4	91					G	46543657	A	G	46543657	3	3	104	1	0	0	0	0	1	0	0	0	7589	217	8	3	294	3	IGFL4	19	46543657	Missense_Mutation	SNP	A	TCGA-DJ-A2Q0-01A-11D-A202-08	4949129	46543657	12585326	31	2246											
DEFB118	117285	broad.mit.edu	37	chr20	29960791	29960791	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccaatgaagaccacaggCgagttcctgcgacatctccc	8	15	1	2			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr20:29960791C>T	ENST00000253381.2	+	2	223	c.190C>T	c.(190-192)Cga>Tga	p.R64*		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	64					cell-matrix adhesion (GO:0007160)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AGACCACAGGCGAGTTCCTGC	0.438																																						ENST00000253381.2																			0				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14						c.(190-192)Cga>Tga		defensin, beta 118							152	134	140					20																	29960791		2203	4300	6503	SO:0001587	stop_gained	117285				cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region		g.chr20:29960791C>T	AF347073	CCDS13177.1	20q11.21	2008-02-01	2002-05-09	2002-05-10	ENSG00000131068	ENSG00000131068		"Defensins, beta"	16196	protein-coding gene	gene with protein product		607650	"chromosome 20 open reading frame 63"	C20orf63		11564719, 15033915	Standard	NM_054112		Approved	dJ1018D12.3, DEFB-18, ESC42	uc002wvr.3	Q96PH6	OTTHUMG00000032161	ENST00000253381.2:c.190C>T	20.37:g.29960791C>T	ENSP00000253381:p.Arg64*						p.R64*	NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	223	+	all_hematologic(12;0.158)		64					Q17RC4|Q8N691|Q9NUH0	Nonsense_Mutation	SNP	ENST00000253381.2	37	c.190C>T	CCDS13177.1	.	.	.	.	.	.	.	.	.	.	C	9.140	1.013563	0.19277	.	.	ENSG00000131068	ENST00000253381	.	.	.	3.43	-6.22	0.02058	.	10.118000	0.00357	N	0.000026	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.5569	1.8142	0.03097	0.1278:0.2744:0.3591:0.2388	.	.	.	.	X	64	.	ENSP00000253381:R64X	R	+	1	2	DEFB118	29424452	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.214000	0.09292	-1.399000	0.02063	-0.181000	0.13052	CGA		0.438	DEFB118-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078501.2	NM_054112		9	110	0	0	0	0.000673	0	9	110					T	29960791	C	T	29960791	4	4	104	1	0	0	0	0	0	1	0	0	4406	760	27	1	196	1	DEFB118	20	29960791	Nonsense_Mutation	SNP	C	TCGA-DJ-A2Q0-01A-11D-A202-08		29960791	33064729	32	2247											
LAMA5	3911	broad.mit.edu	37	chr20	60887079	60887079	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgtaggctcacacggccctGctgcagggacacctggcata	12	14	1	0			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr20:60887079G>C	ENST00000252999.3	-	70	9598	c.9532C>G	c.(9532-9534)Cag>Gag	p.Q3178E	LAMA5_ENST00000492698.1_5'Flank	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3178	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)			ACACGGCCCTGCTGCAGGGAC	0.637																																						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.(9532-9534)Cag>Gag		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						50	53	52					20																	60887079		2202	4297	6499	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.chr20:60887079G>C	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.9532C>G	20.37:g.60887079G>C	ENSP00000252999:p.Gln3178Glu						p.Q3178E	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		70	9598	-	Breast(26;1.57e-08)		3178			Laminin G-like 3.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.9532C>G	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	g	0.695	-0.793071	0.02862	.	.	ENSG00000130702	ENST00000252999	T	0.39592	1.07	4.1	3.12	0.35913	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.719801	0.13824	N	0.360196	T	0.24774	0.0601	L	0.31294	0.92	0.09310	N	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.29058	-1.0024	10	0.02654	T	1	.	8.1774	0.31289	0.0:0.1527:0.6291:0.2182	.	3178	O15230	LAMA5_HUMAN	E	3178	ENSP00000252999:Q3178E	ENSP00000252999:Q3178E	Q	-	1	0	LAMA5	60320474	0.000000	0.05858	0.889000	0.34880	0.076000	0.17211	0.103000	0.15292	0.894000	0.36317	0.556000	0.70494	CAG		0.637	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		20	51	0	0	0	0.001216	0	20	51					C	60887079	G	C	60887079	3	2	104	1	0	0	0	0	1	0	0	0	8609	1328	46	4	1599	4	LAMA5	20	60887079	Missense_Mutation	SNP	G	TCGA-DJ-A2Q0-01A-11D-A202-08	30926288	60887079	2138441	33	2248											
ARHGAP36	158763	broad.mit.edu	37	chrX	130217771	130217771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgaacgagtttacccgccGcaagcatcttgaactgacag	11	11	1	3			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chrX:130217771G>A	ENST00000276211.5	+	4	728	c.383G>A	c.(382-384)cGc>cAc	p.R128H	ARHGAP36_ENST00000370921.1_5'UTR|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R116H	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	128					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TTTACCCGCCGCAAGCATCTT	0.562																																						ENST00000276211.5																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						c.(382-384)cGc>cAc		Rho GTPase activating protein 36							133	131	131					X																	130217771		2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130217771G>A		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"Rho GTPase activating proteins"	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.383G>A	X.37:g.130217771G>A	ENSP00000276211:p.Arg128His					ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R116H|ARHGAP36_ENST00000370921.1_5'UTR	p.R128H	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN			4	728	+			128					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.383G>A	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.056780	0.36277	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000423277;ENST00000412432	T;T;T	0.12984	2.63;2.63;2.66	4.3	4.3	0.51218	.	0.137816	0.34156	N	0.004215	T	0.10078	0.0247	N	0.24115	0.695	0.80722	D	1	P;P;P	0.50710	0.856;0.938;0.898	B;B;B	0.41723	0.365;0.365;0.201	T	0.03662	-1.1015	10	0.72032	D	0.01	.	11.0712	0.48004	0.0:0.0:1.0:0.0	.	97;116;128	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	H	128;116;80;97	ENSP00000276211:R128H;ENSP00000359960:R116H;ENSP00000408515:R97H	ENSP00000276211:R128H	R	+	2	0	ARHGAP36	130045452	1.000000	0.71417	0.999000	0.59377	0.046000	0.14306	3.734000	0.55037	2.380000	0.81148	0.600000	0.82982	CGC		0.562	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		36	168	0	0	0	0.00361	0	36	168					A	130217771	G	A	130217771	3	1	104	1	0	0	0	0	1	0	0	0	883	1087	38	1	393	1	ARHGAP36	23	130217771	Missense_Mutation	SNP	G	TCGA-DJ-A2Q0-01A-11D-A202-08		130217771	25052789	34	2249											
SLITRK2	84631	broad.mit.edu	37	chrX	144905417	144905417	+	Frame_Shift_Del	DEL	G	G	-													ccttacctgataatatatttGgggggacggccctaaccagg							TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chrX:144905417delG	ENST00000370490.1	+	1	5729	c.1474delG	c.(1474-1476)gggfs	p.G493fs	SLITRK2_ENST00000447897.2_Frame_Shift_Del_p.G493fs|SLITRK2_ENST00000434188.2_Frame_Shift_Del_p.G493fs|SLITRK2_ENST00000428560.2_Frame_Shift_Del_p.G493fs|SLITRK2_ENST00000413937.2_Frame_Shift_Del_p.G493fs			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	493					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TAATATATTTGGGGGGACGGC	0.453																																						ENST00000370490.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86						c.(1474-1476)ggfs		SLIT and NTRK-like family, member 2							110	118	115					X																	144905417		2203	4300	6503	SO:0001589	frameshift_variant	84631					integral to membrane		g.chrX:144905417delG	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"slit-like 1 (Drosophila)"	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.1474delG	X.37:g.144905417delG	ENSP00000359521:p.Gly493fs					SLITRK2_ENST00000428560.2_Frame_Shift_Del_p.G493fs|SLITRK2_ENST00000447897.2_Frame_Shift_Del_p.G493fs|SLITRK2_ENST00000434188.2_Frame_Shift_Del_p.G493fs|SLITRK2_ENST00000413937.2_Frame_Shift_Del_p.G493fs	p.G493fs			Q9H156	SLIK2_HUMAN			1	5729	+	Acute lymphoblastic leukemia(192;6.56e-05)		493					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Frame_Shift_Del	DEL	ENST00000370490.1	37	c.1474delG	CCDS14680.1																																																																																				0.453	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		8	228						8	228	---	---	---	---	-	144905417	G	-	144905417	7	5	104	1	0	1	0	1	0	0	0	0	14743	1348	47	0	1476	0	SLITRK2	23	144905417	Frame_Shift_Del	DEL	G	TCGA-DJ-A2Q0-01A-11D-A202-08	14687646	144905417	10365143	35	2250											
TRIP12	9320	broad.mit.edu	37	chr2	230664036	230664036	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcatcatctcttggaggtgaGtactttggccttcttggccc	10	11	4	1			TCGA-DJ-A2Q1-01A-22D-A19J-08	TCGA-DJ-A2Q1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	007aab66-2f07-459d-8952-3041d6ea24a8	ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2	g.chr2:230664036G>T	ENST00000283943.5	-	21	3223	c.3045C>A	c.(3043-3045)taC>taA	p.Y1015*	TRIP12_ENST00000389044.4_Nonsense_Mutation_p.Y1063*|TRIP12_ENST00000543084.1_Missense_Mutation_p.L342I|TRIP12_ENST00000389045.3_Nonsense_Mutation_p.Y745*	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1015					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)	p.Y1015*(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TTGGAGGTGAGTACTTTGGCC	0.428																																						ENST00000283943.5																			1	Substitution - Nonsense(1)	p.Y1015*(1)	upper_aerodigestive_tract(1)	breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(3043-3045)taC>taA		thyroid hormone receptor interactor 12							196	178	184					2																	230664036		2203	4300	6503	SO:0001587	stop_gained	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230664036G>T	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.3045C>A	2.37:g.230664036G>T	ENSP00000283943:p.Tyr1015*					TRIP12_ENST00000389045.3_Nonsense_Mutation_p.Y745*|TRIP12_ENST00000389044.4_Nonsense_Mutation_p.Y1063*|TRIP12_ENST00000543084.1_Missense_Mutation_p.L342I	p.Y1015*	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	21	3223	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1015					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Nonsense_Mutation	SNP	ENST00000283943.5	37	c.3045C>A	CCDS33391.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.136639|8.136639	0.98672|0.98672	.|.	.|.	ENSG00000153827|ENSG00000153827	ENST00000543084|ENST00000283943;ENST00000389045;ENST00000389044	.|.	.|.	.|.	5.0|5.0	0.677|0.677	0.17964|0.17964	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.42245|.	0.1194|.	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.36866|.	-0.9730|.	5|.	0.87932|0.54805	D|T	0|0.06	.|.	10.3439|10.3439	0.43895|0.43895	0.6729:0.0:0.3271:0.0|0.6729:0.0:0.3271:0.0	.|.	.|.	.|.	.|.	I|X	342|1015;745;1063	.|.	ENSP00000440715:L342I|ENSP00000283943:Y1015X	L|Y	-|-	1|3	0|2	TRIP12|TRIP12	230372280|230372280	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.825000|0.825000	0.27393|0.27393	0.099000|0.099000	0.17552|0.17552	0.591000|0.591000	0.81541|0.81541	CTC|TAC		0.428	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		18	77	1	0	8.34094e-07	0.049695	1.12282e-06	18	77					T	230664036	G	T	230664036	4	4	105	1	0	0	0	0	0	1	0	0	16553	1024	36	4	3017	4	TRIP12	2	230664036	Nonsense_Mutation	SNP	G	TCGA-DJ-A2Q1-01A-22D-A19J-08		230664036	12535337	1	2251											
ATR	545	broad.mit.edu	37	chr3	142278216	142278216	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacttttgtgtaaaaatccaAtgacatccaagttatcacta	4	9	1	1			TCGA-DJ-A2Q1-01A-22D-A19J-08	TCGA-DJ-A2Q1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	007aab66-2f07-459d-8952-3041d6ea24a8	ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2	g.chr3:142278216A>G	ENST00000350721.4	-	7	1730	c.1609T>C	c.(1609-1611)Ttg>Ctg	p.L537L	ATR_ENST00000383101.3_Silent_p.L473L	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	537					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TAAAAATCCAATGACATCCAA	0.363								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(1609-1611)Ttg>Ctg	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							99	96	97					3																	142278216		2203	4300	6503	SO:0001819	synonymous_variant	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142278216A>G	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.1609T>C	3.37:g.142278216A>G						ATR_ENST00000383101.3_Silent_p.L473L	p.L537L	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			7	1730	-			537					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	ENST00000350721.4	37	c.1609T>C	CCDS3124.1																																																																																				0.363	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		20	34	0	0	0	0.062417	0	20	34					G	142278216	A	G	142278216	2	3	105	1	0	0	0	0	0	0	0	1	1204	98	4	3		3	ATR	3	142278216	Silent	SNP	A	TCGA-DJ-A2Q1-01A-22D-A19J-08		142278216	55744214	2	2252											
DYNC1I1	1780	broad.mit.edu	37	chr7	95442507	95442507	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgacactgctcttcaccaGtgcagccgctgcatttttta	7	13	3	1			TCGA-DJ-A2Q1-01A-22D-A19J-08	TCGA-DJ-A2Q1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	007aab66-2f07-459d-8952-3041d6ea24a8	ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2	g.chr7:95442507G>A	ENST00000324972.6	+	4	416		c.e4-1		DYNC1I1_ENST00000359388.4_Intron|DYNC1I1_ENST00000437599.1_Splice_Site|DYNC1I1_ENST00000537881.1_Intron|DYNC1I1_ENST00000413338.1_Intron|DYNC1I1_ENST00000457059.1_Intron|DYNC1I1_ENST00000447467.2_Intron	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CTCTTCACCAGTGCAGCCGCT	0.413																																						ENST00000324972.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54						c.e4-1		dynein, cytoplasmic 1, intermediate chain 1							107	110	109					7																	95442507		2203	4300	6503	SO:0001630	splice_region_variant	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95442507G>A	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"Cytoplasmic dyneins", "WD repeat domain containing"	2963	protein-coding gene	gene with protein product		603772	"dynein, cytoplasmic, intermediate polypeptide 1"	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.224-1G>A	7.37:g.95442507G>A						DYNC1I1_ENST00000359388.4_Intron|DYNC1I1_ENST00000437599.1_Splice_Site|DYNC1I1_ENST00000413338.1_Intron|DYNC1I1_ENST00000537881.1_Intron|DYNC1I1_ENST00000447467.2_Intron|DYNC1I1_ENST00000457059.1_Intron		NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		4	416	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)							B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Splice_Site	SNP	ENST00000324972.6	37		CCDS5644.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.421907	0.62622	.	.	ENSG00000158560	ENST00000324972;ENST00000437599	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1532	0.93499	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DYNC1I1	95280443	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.444000	0.80532	2.941000	0.99782	0.655000	0.94253	.		0.413	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411	Intron	36	76	0	0	0	0.092188	0	36	76					A	95442507	G	A	95442507	5	1	105	1	0	0	0	0	0	0	1	0	4842	1043	36	2	233	2	DYNC1I1	7	95442507	Splice_Site	SNP	G	TCGA-DJ-A2Q1-01A-22D-A19J-08		95442507	63696156	3	2253											
C14orf147	171546	broad.mit.edu	37	chr14	34931373	34931373	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ggtactggtagtagaaccagGacatctgcttccaggcccgc	12	12	1	1			TCGA-DJ-A2Q1-01A-22D-A19J-08	TCGA-DJ-A2Q1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	007aab66-2f07-459d-8952-3041d6ea24a8	ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2	g.chr14:34931373G>C	ENST00000298130.4	-	1	189	c.41C>G	c.(40-42)tCc>tGc	p.S14C		NM_138288.3	NP_612145.2	Q969W0	SPTSA_HUMAN	serine palmitoyltransferase, small subunit A	14					sphingolipid biosynthetic process (GO:0030148)	integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)											GTAGAACCAGGACATCTGCTT	0.697																																						ENST00000298130.4																			0											c.(40-42)tCc>tGc		serine palmitoyltransferase, small subunit A							27	25	26					14																	34931373		2203	4296	6499	SO:0001583	missense	171546				sphingolipid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	protein binding	g.chr14:34931373G>C	AK001993	CCDS9647.2	14q13.1	2011-07-26	2011-07-26	2011-07-26	ENSG00000165389	ENSG00000165389			20361	protein-coding gene	gene with protein product	"small subunit of serine palmitoyltransferase A"	613540	"chromosome 14 open reading frame 147"	C14orf147		19416851	Standard	NM_138288		Approved	ssSPTa	uc001wsc.3	Q969W0	OTTHUMG00000140212	ENST00000298130.4:c.41C>G	14.37:g.34931373G>C	ENSP00000298130:p.Ser14Cys						p.S14C	NM_138288.3	NP_612145.2	Q969W0	SSPTA_HUMAN			1	189	-			14					B2RD54|D3DS93|Q8WTZ7	Missense_Mutation	SNP	ENST00000298130.4	37	c.41C>G	CCDS9647.2	.	.	.	.	.	.	.	.	.	.	g	32	5.131374	0.94473	.	.	ENSG00000165389	ENST00000298130	.	.	.	4.02	4.02	0.46733	.	0.000000	0.64402	D	0.000001	T	0.79299	0.4422	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.82888	-0.0234	8	0.66056	D	0.02	-12.2681	16.7074	0.85376	0.0:0.0:1.0:0.0	.	14	Q969W0	SPTSA_HUMAN	C	14	.	ENSP00000298130:S14C	S	-	2	0	SPTSSA	34001124	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.103000	0.89550	2.243000	0.73865	0.484000	0.47621	TCC		0.697	SPTSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276640.2	NM_138288		4	16	0	0	0	0.02938	0	4	16					C	34931373	G	C	34931373	3	2	105	1	0	0	0	0	1	0	0	0	1750	1174	41	4	182	4	C14orf147	14	34931373	Missense_Mutation	SNP	G	TCGA-DJ-A2Q1-01A-22D-A19J-08		34931373	72418167	4	2254											
C15orf39	56905	broad.mit.edu	37	chr15	75501019	75501019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggagctgcggcccaccaCgctgtcggaggagcgggcac	17	13	0	0			TCGA-DJ-A2Q1-01A-22D-A19J-08	TCGA-DJ-A2Q1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	007aab66-2f07-459d-8952-3041d6ea24a8	ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2	g.chr15:75501019C>T	ENST00000360639.2	+	2	2950	c.2630C>T	c.(2629-2631)aCg>aTg	p.T877M	C15orf39_ENST00000567617.1_Missense_Mutation_p.T877M|C15orf39_ENST00000394987.4_Missense_Mutation_p.T877M|RP11-69H7.3_ENST00000563568.1_RNA			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	877						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CGGCCCACCACGCTGTCGGAG	0.667																																						ENST00000360639.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						c.(2629-2631)aCg>aTg		chromosome 15 open reading frame 39							23	18	20					15																	75501019		2194	4292	6486	SO:0001583	missense	56905							g.chr15:75501019C>T	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 38~Name Same As HGNC:28782"				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.2630C>T	15.37:g.75501019C>T	ENSP00000353854:p.Thr877Met					C15orf39_ENST00000567617.1_Missense_Mutation_p.T877M|C15orf39_ENST00000394987.4_Missense_Mutation_p.T877M	p.T877M			Q6ZRI6	CO039_HUMAN			2	2950	+			877					B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	37	c.2630C>T	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298753	0.81025	.	.	ENSG00000167173	ENST00000360639;ENST00000394987;ENST00000446981	T;T	0.38401	1.14;1.14	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.59528	0.2200	M	0.64997	1.995	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.61657	-0.7018	10	0.87932	D	0	-17.2293	17.8467	0.88732	0.0:1.0:0.0:0.0	.	439;877	Q2VPA3;Q6ZRI6	.;CO039_HUMAN	M	877;877;275	ENSP00000353854:T877M;ENSP00000378438:T877M	ENSP00000353854:T877M	T	+	2	0	C15orf39	73288072	1.000000	0.71417	0.999000	0.59377	0.601000	0.36947	7.382000	0.79729	2.556000	0.86216	0.561000	0.74099	ACG		0.667	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		4	15	0	0	0	0.014758	0	4	15					T	75501019	C	T	75501019	3	4	105	1	0	0	0	0	1	0	0	0	1793	536	19	1	2632	1	C15orf39	15	75501019	Missense_Mutation	SNP	C	TCGA-DJ-A2Q1-01A-22D-A19J-08		75501019	27030373	5	2255											
FAM192A	80011	broad.mit.edu	37	chr16	57201066	57201066	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaacttgttcttggtttctaTaggcttcacagtcagtttct	8	8	5	0	rs143746498	byFrequency	TCGA-DJ-A2Q1-01A-22D-A19J-08	TCGA-DJ-A2Q1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	007aab66-2f07-459d-8952-3041d6ea24a8	ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2	g.chr16:57201066T>A	ENST00000309137.8	-	5	679	c.421A>T	c.(421-423)Ata>Tta	p.I141L	FAM192A_ENST00000564108.1_Missense_Mutation_p.I141L|FAM192A_ENST00000566077.1_Missense_Mutation_p.I64L|FAM192A_ENST00000569266.1_Missense_Mutation_p.I141L|FAM192A_ENST00000567439.1_Missense_Mutation_p.I141L|FAM192A_ENST00000389447.5_Missense_Mutation_p.I141L	NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN	family with sequence similarity 192, member A	141						nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						TTGGTTTCTATAGGCTTCACA	0.433													T|||	2	0.000399361	0	0	5008	,	,		21575	0		0.002	False		,,,				2504	0					ENST00000309137.8																			0				endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						c.(421-423)Ata>Tta		family with sequence similarity 192, member A		T	LEU/ILE	2,3876		0,2,1937	161	153	155		421	0.3	1.0	16	dbSNP_134	155	27,8257		1,25,4116	no	missense	FAM192A	NM_024946.2	5	1,27,6053	AA,AT,TT		0.3259,0.0516,0.2384	benign	141/255	57201066	29,12133	1939	4142	6081	SO:0001583	missense	80011					nucleus		g.chr16:57201066T>A		CCDS42168.1	16q13	2009-08-19	2009-08-19	2009-08-19		ENSG00000172775			29856	protein-coding gene	gene with protein product	"NEFA interacting nuclear protein NIP30"		"chromosome 16 open reading frame 94"	C16orf94		12477932	Standard	NM_024946		Approved	NIP30	uc021tiy.1	Q9GZU8		ENST00000309137.8:c.421A>T	16.37:g.57201066T>A	ENSP00000335808:p.Ile141Leu					FAM192A_ENST00000564108.1_Missense_Mutation_p.I141L|FAM192A_ENST00000566077.1_Missense_Mutation_p.I64L|FAM192A_ENST00000569266.1_Missense_Mutation_p.I141L|FAM192A_ENST00000567439.1_Missense_Mutation_p.I141L|FAM192A_ENST00000389447.5_Missense_Mutation_p.I141L	p.I141L	NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN			5	679	-			141						Missense_Mutation	SNP	ENST00000309137.8	37	c.421A>T	CCDS42168.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	T	3.326	-0.137639	0.06711	5.16E-4	0.003259	ENSG00000172775	ENST00000309137;ENST00000389447	.	.	.	6.08	0.348	0.16026	.	0.764316	0.13833	N	0.359640	T	0.24928	0.0605	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17137	-1.0379	9	0.27785	T	0.31	-8.0652	6.3694	0.21473	0.1399:0.4636:0.0:0.3964	.	141	Q9GZU8	F192A_HUMAN	L	141	.	ENSP00000335808:I141L	I	-	1	0	FAM192A	55758567	0.924000	0.31332	0.976000	0.42696	0.020000	0.10135	0.031000	0.13710	0.116000	0.18110	-0.376000	0.06991	ATA		0.433	FAM192A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433022.2	NM_024946		4	107	0	0	0	0.021553	0	4	107					A	57201066	T	A	57201066	3	1	105	1	0	0	0	0	1	0	0	0	5523	1406	49	5	355	5	FAM192A	16	57201066	Missense_Mutation	SNP	T	TCGA-DJ-A2Q1-01A-22D-A19J-08		57201066	33153687	6	2256											
WNK4	65266	broad.mit.edu	37	chr17	40948252	40948253	+	Missense_Mutation	DNP	GC	GC	AG													attgtggccccagctgctatGctgtccagccgccagcgccg							TCGA-DJ-A2Q1-01A-22D-A19J-08	TCGA-DJ-A2Q1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	007aab66-2f07-459d-8952-3041d6ea24a8	ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2	g.chr17:40948252_40948253GC>AG	ENST00000246914.5	+	17	3564_3565	c.3543_3544GC>AG	c.(3541-3546)atGCtg>atAGtg	p.1181_1182ML>IV	CNTD1_ENST00000588527.1_5'Flank|CNTD1_ENST00000588408.1_5'Flank	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1181					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CAGCTGCTATGCTGTCCAGCCG	0.609																																					Esophageal Squamous(6;201 374 4964 23855 42828)	ENST00000246914.5																			0				NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35						c.(3541-3543)atG>atA|c.(3544-3546)Ctg>Gtg		WNK lysine deficient protein kinase 4																																				SO:0001583	missense	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40948252G>A|g.chr17:40948253C>G	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"protein kinase, lysine deficient 4"	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		Exception_encountered	17.37:g.40948252_40948253delinsAG	ENSP00000246914:p.M1181_L1182delinsIV						p.M1181I|p.L1182V	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	17	3564|3565	+		Breast(137;0.000143)	1181|1182					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	c.3543G>A|c.3544C>G	CCDS11439.1																																																																																				0.609	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			7	17|16	0	0	0	0.038147	0	7	16					AG	40948253	GC	AG	40948252	3	1	105	1	0	0	0	0	1	0	0	0	17377	1319	46	2	3609	2	WNK4	17	40948252	Missense_Mutation	DNP	GC	TCGA-DJ-A2Q1-01A-22D-A19J-08		40948252	40246958	7	2257											
METRNL	284207	broad.mit.edu	37	chr17	81042863	81042863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtggagcaggtgtatctgCgctgtgcggcgggtgccgtg	20	8	1	0			TCGA-DJ-A2Q1-01A-22D-A19J-08	TCGA-DJ-A2Q1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	007aab66-2f07-459d-8952-3041d6ea24a8	ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2	g.chr17:81042863C>T	ENST00000320095.7	+	2	345	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C	METRNL_ENST00000570778.1_5'UTR|METRNL_ENST00000571814.1_5'UTR	NM_001004431.1	NP_001004431.1	Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation regulator-like	74					brown fat cell differentiation (GO:0050873)|fat cell differentiation (GO:0045444)|negative regulation of inflammatory response (GO:0050728)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of energy homeostasis (GO:2000507)|response to cold (GO:0009409)|response to muscle activity (GO:0014850)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone activity (GO:0005179)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GGTGTATCTGCGCTGTGCGGC	0.652																																						ENST00000320095.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8						c.(220-222)Cgc>Tgc		meteorin, glial cell differentiation regulator-like							107	107	107					17																	81042863		2203	4300	6503	SO:0001583	missense	284207					extracellular region		g.chr17:81042863C>T	AK093748	CCDS32779.1	17q25.3	2004-12-01				ENSG00000176845			27584	protein-coding gene	gene with protein product							Standard	NM_001004431		Approved		uc002kgh.3	Q641Q3		ENST00000320095.7:c.220C>T	17.37:g.81042863C>T	ENSP00000315731:p.Arg74Cys					METRNL_ENST00000570778.1_5'UTR|METRNL_ENST00000571814.1_5'UTR	p.R74C	NM_001004431.1	NP_001004431.1	Q641Q3	METRL_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)		2	345	+	Breast(20;0.000443)|all_neural(118;0.0779)		74					B3KSJ5|Q86VM0	Missense_Mutation	SNP	ENST00000320095.7	37	c.220C>T	CCDS32779.1	.	.	.	.	.	.	.	.	.	.	c	22.2	4.253567	0.80135	.	.	ENSG00000176845	ENST00000320095	.	.	.	4.14	4.14	0.48551	.	0.000000	0.85682	D	0.000000	T	0.76593	0.4009	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77405	-0.2600	8	.	.	.	-40.3061	14.3275	0.66530	0.0:1.0:0.0:0.0	.	74	Q641Q3	METRL_HUMAN	C	74	.	.	R	+	1	0	METRNL	78636152	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	7.058000	0.76676	2.323000	0.78572	0.450000	0.29827	CGC		0.652	METRNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438902.1	NM_001004431		5	62	0	0	0	0.021553	0	5	62					T	81042863	C	T	81042863	3	4	105	1	0	0	0	0	1	0	0	0	9489	768	27	1	226	1	METRNL	17	81042863	Missense_Mutation	SNP	C	TCGA-DJ-A2Q1-01A-22D-A19J-08	40094611	81042863	152347	8	2258											
CD209	30835	broad.mit.edu	37	chr19	7810588	7810588	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcctggtagatctcctgctgCttagatttctctggaagctc	9	11	2	2	rs112592254		TCGA-DJ-A2Q1-01A-22D-A19J-08	TCGA-DJ-A2Q1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	007aab66-2f07-459d-8952-3041d6ea24a8	ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2	g.chr19:7810588C>G	ENST00000315599.7	-	4	586	c.564G>C	c.(562-564)aaG>aaC	p.K188N	CD209_ENST00000601256.1_Missense_Mutation_p.K164N|CD209_ENST00000394173.4_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.K188N|CD209_ENST00000593821.1_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.K164N|CD209_ENST00000394161.5_Intron|CD209_ENST00000593660.1_Missense_Mutation_p.K164N|CD209_ENST00000301357.8_Intron|CD209_ENST00000315591.8_Missense_Mutation_p.K164N|CD209_ENST00000204801.8_Missense_Mutation_p.K144N|CD209_ENST00000602261.1_Intron	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	188	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCTCCTGCTGCTTAGATTTCT	0.557																																						ENST00000315599.7																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(562-564)aaG>aaC		CD209 molecule							62	60	61					19																	7810588		1952	3957	5909	SO:0001583	missense	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7810588C>G	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"C-type lectin domain containing", "CD molecules"	1641	protein-coding gene	gene with protein product		604672	"CD209 antigen"			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.564G>C	19.37:g.7810588C>G	ENSP00000315477:p.Lys188Asn					CD209_ENST00000602261.1_Intron|CD209_ENST00000315591.8_Missense_Mutation_p.K164N|CD209_ENST00000601951.1_Missense_Mutation_p.K164N|CD209_ENST00000601256.1_Missense_Mutation_p.K164N|CD209_ENST00000593821.1_Intron|CD209_ENST00000593660.1_Missense_Mutation_p.K164N|CD209_ENST00000204801.8_Missense_Mutation_p.K144N|CD209_ENST00000394161.5_Intron|CD209_ENST00000394173.4_Intron|CD209_ENST00000301357.8_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.K188N	p.K188N	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN			4	586	-			188			7 X approximate tandem repeats.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.564G>C	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.537301	0.27475	.	.	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000540789	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	0.995	0.995	0.19838	.	.	.	.	.	T	0.42268	0.1195	M	0.69823	2.125	0.09310	N	0.999997	P;P;P;P;D;B;D;D	0.67145	0.835;0.604;0.908;0.95;0.975;0.34;0.97;0.996	P;B;P;P;P;B;B;D	0.77557	0.65;0.318;0.888;0.72;0.776;0.108;0.412;0.99	T	0.15206	-1.0445	9	0.34782	T	0.22	.	5.3585	0.16075	0.0:1.0:0.0:0.0	.	188;164;144;164;188;164;164;188	Q9NNX6-2;Q9NNX6-12;Q9NNX6-7;Q9NNX6-6;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;CD209_HUMAN;.;.;.	N	188;188;164;144;172	ENSP00000315477:K188N;ENSP00000346373:K188N;ENSP00000315407:K164N;ENSP00000204801:K144N	ENSP00000204801:K144N	K	-	3	2	CD209	7716588	0.092000	0.21681	0.025000	0.17156	0.036000	0.12997	-0.139000	0.10358	0.837000	0.34925	0.298000	0.19748	AAG		0.557	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		13	130	0	0	0	0.062417	0	13	130					G	7810588	C	G	7810588	3	3	105	1	0	0	0	0	1	0	0	0	2984	796	28	4	666	4	CD209	19	7810588	Missense_Mutation	SNP	C	TCGA-DJ-A2Q1-01A-22D-A19J-08		7810588	51318395	9	2259											
ATP1A1	476	broad.mit.edu	37	chr1	116932301	116932301	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cggtatcatcgtagccaatgTgccggaaggtttgctggcca	13	10	1	0			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr1:116932301T>G	ENST00000295598.5	+	8	1247	c.995T>G	c.(994-996)gTg>gGg	p.V332G	ATP1A1_ENST00000369496.4_Missense_Mutation_p.V301G|ATP1A1_ENST00000491156.1_3'UTR|ATP1A1_ENST00000537345.1_Missense_Mutation_p.V332G	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	332					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	GTAGCCAATGTGCCGGAAGGT	0.507																																						ENST00000537345.1																			0				NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(994-996)gTg>gGg		ATPase, Na+/K+ transporting, alpha 1 polypeptide	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)						122	92	102					1																	116932301		2203	4300	6503	SO:0001583	missense	476				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity	g.chr1:116932301T>G	D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"ATPases / P-type"	799	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-1", "sodium pump subunit alpha-1", "sodium-potassium ATPase catalytic subunit alpha-1"	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.995T>G	1.37:g.116932301T>G	ENSP00000295598:p.Val332Gly					ATP1A1_ENST00000369496.4_Missense_Mutation_p.V301G|ATP1A1_ENST00000295598.5_Missense_Mutation_p.V332G|ATP1A1_ENST00000491156.1_3'UTR	p.V332G	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	8	1358	+	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)	332					B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	ENST00000295598.5	37	c.995T>G	CCDS887.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.513868	0.85389	.	.	ENSG00000163399	ENST00000295598;ENST00000537345;ENST00000339159;ENST00000369496	D;D;D	0.92545	-3.06;-3.06;-3.06	4.87	4.87	0.63330	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.97417	0.9155	H	0.98256	4.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98837	1.0753	10	0.87932	D	0	.	14.6423	0.68734	0.0:0.0:0.0:1.0	.	332;332	F5H3A1;P05023	.;AT1A1_HUMAN	G	332;332;331;301	ENSP00000295598:V332G;ENSP00000445306:V332G;ENSP00000358508:V301G	ENSP00000295598:V332G	V	+	2	0	ATP1A1	116733824	1.000000	0.71417	0.998000	0.56505	0.810000	0.45777	7.868000	0.87116	2.068000	0.61886	0.528000	0.53228	GTG		0.507	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233		12	26	0	0	0	0.435327	0	12	26					G	116932301	T	G	116932301	3	3	106	1	0	0	0	0	1	0	0	0	1128	1696	59	5	1041	5	ATP1A1	1	116932301	Missense_Mutation	SNP	T	TCGA-DJ-A2Q2-01A-11D-A19J-08		116932301	132318320	1	2260											
DNMT3A	1788	broad.mit.edu	37	chr2	25470535	25470535	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctccggcccgtcatccaCcaagacacaatgcggcctgg	11	17	1	1			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr2:25470535C>T	ENST00000264709.3	-	8	1276	c.939G>A	c.(937-939)tgG>tgA	p.W313*	DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.W124*|DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.W90*|DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.W313*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	313	Interaction with DNMT1 and DNMT3B.|PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGTCATCCACCAAGACACAA	0.637			"Mis, F, N, S"		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"Mis, F, N, S"	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(937-939)tgG>tgA		DNA (cytosine-5-)-methyltransferase 3 alpha							91	95	94					2																	25470535		2203	4300	6503	SO:0001587	stop_gained	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25470535C>T		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.939G>A	2.37:g.25470535C>T	ENSP00000264709:p.Trp313*					DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.W313*|DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.W90*|DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.W124*	p.W313*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			8	1276	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		313			Interaction with DNMT1 and DNMT3B.|PWWP.		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Nonsense_Mutation	SNP	ENST00000264709.3	37	c.939G>A	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	40	8.118433	0.98662	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0978	16.948	0.86235	0.0:1.0:0.0:0.0	.	.	.	.	X	124;313;313;90	.	ENSP00000264709:W313X	W	-	3	0	DNMT3A	25324039	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.848000	0.55903	2.584000	0.87258	0.462000	0.41574	TGG		0.637	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		7	68	0	0	0	0.248553	0	7	68					T	25470535	C	T	25470535	4	4	106	1	0	0	0	0	0	1	0	0	4676	508	18	2	1863	2	DNMT3A	2	25470535	Nonsense_Mutation	SNP	C	TCGA-DJ-A2Q2-01A-11D-A19J-08		25470535	217728838	2	2261											
HADHA	3030	broad.mit.edu	37	chr2	26457150	26457150	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggctttgtggacttttcaaGtttctcaactattctctgtg	8	8	3	0	rs75929560		TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr2:26457150G>T	ENST00000380649.3	-	5	517	c.388C>A	c.(388-390)Ctt>Att	p.L130I	HADHA_ENST00000461025.1_5'UTR|HADHA_ENST00000457468.2_Missense_Mutation_p.L43I	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	130					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACTTTTCAAGTTTCTCAACT	0.423																																						ENST00000380649.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30						c.(388-390)Ctt>Att		hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	NADH(DB00157)						131	121	124					2																	26457150		2203	4300	6503	SO:0001583	missense	3030				fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding	g.chr2:26457150G>T	D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"gastrin-binding protein", "long-chain-3-hydroxyacyl-CoA dehydrogenase", "long-chain 2-enoyl-CoA hydratase", "mitochondrial trifunctional protein, alpha subunit"	600890	"hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.388C>A	2.37:g.26457150G>T	ENSP00000370023:p.Leu130Ile					HADHA_ENST00000457468.2_Missense_Mutation_p.L43I|HADHA_ENST00000461025.1_5'UTR	p.L130I	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN			5	517	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		130					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	ENST00000380649.3	37	c.388C>A	CCDS1721.1	.	.	.	.	.	.	.	.	.	.	G	4.807	0.150098	0.09185	.	.	ENSG00000084754	ENST00000380649;ENST00000457468	T;T	0.69306	-0.39;-0.39	5.47	3.65	0.41850	Crotonase, core (1);	0.165507	0.53938	D	0.000052	T	0.42017	0.1184	N	0.05306	-0.075	0.43814	D	0.996378	B;B;B	0.15141	0.012;0.0;0.0	B;B;B	0.23574	0.047;0.008;0.008	T	0.35051	-0.9804	10	0.05351	T	0.99	-23.7369	14.0503	0.64732	0.0:0.288:0.712:0.0	.	43;130;130	B4DYP2;E9KL44;P40939	.;.;ECHA_HUMAN	I	130;43	ENSP00000370023:L130I;ENSP00000405344:L43I	ENSP00000370023:L130I	L	-	1	0	HADHA	26310654	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	3.333000	0.52090	0.677000	0.31305	0.655000	0.94253	CTT		0.423	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1	NM_000182		5	79	1	0	2.0095e-06	0.248553	2.32679e-06	5	79					T	26457150	G	T	26457150	3	4	106	1	0	0	0	0	1	0	0	0	6943	1029	36	4	1967	4	HADHA	2	26457150	Missense_Mutation	SNP	G	TCGA-DJ-A2Q2-01A-11D-A19J-08	986615	26457150	216742223	3	2262											
C1QL2	165257	broad.mit.edu	37	chr2	119915192	119915192	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcagaggtccgcccacatGctggtgccgtcgccgccgcg	14	16	0	1			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr2:119915192G>A	ENST00000272520.3	-	1	1273	c.654C>T	c.(652-654)agC>agT	p.S218S		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	218	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein oligomerization (GO:0051259)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						CCGCCCACATGCTGGTGCCGT	0.642										HNSCC(49;0.14)																												ENST00000272520.3																			0				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						c.(652-654)agC>agT		complement component 1, q subcomponent-like 2							48	54	52					2																	119915192		2201	4300	6501	SO:0001819	synonymous_variant	165257					collagen		g.chr2:119915192G>A	AF525315	CCDS42737.1	2q14.2	2009-05-20			ENSG00000144119	ENSG00000144119			24181	protein-coding gene	gene with protein product	"C1q and tumor necrosis factor related protein 10"	614330				18783346	Standard	NM_182528		Approved	CTRP10, C1QTNF10	uc002tlo.2	Q7Z5L3	OTTHUMG00000153271	ENST00000272520.3:c.654C>T	2.37:g.119915192G>A		HNSCC(49;0.14)					p.S218S	NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN			1	1273	-			218			C1q.			Silent	SNP	ENST00000272520.3	37	c.654C>T	CCDS42737.1																																																																																				0.642	C1QL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330527.2	NM_182528		10	28	0	0	0	0.361761	0	10	28					A	119915192	G	A	119915192	2	1	106	1	0	0	0	0	0	0	0	1	1959	1310	46	2		2	C1QL2	2	119915192	Silent	SNP	G	TCGA-DJ-A2Q2-01A-11D-A19J-08	93458042	119915192	123284181	4	2263											
GRXCR1	389207	broad.mit.edu	37	chr4	42964970	42964970	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taccacctgccttcgtgtggTccggacaacctttgaaagat	9	12	0	2			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr4:42964970T>C	ENST00000399770.2	+	2	446	c.446T>C	c.(445-447)gTc>gCc	p.V149A		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	149	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						CTTCGTGTGGTCCGGACAACC	0.388																																						ENST00000399770.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						c.(445-447)gTc>gCc		glutaredoxin, cysteine rich 1							171	165	167					4																	42964970		1867	4102	5969	SO:0001583	missense	389207				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	g.chr4:42964970T>C		CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 88"	613283	"deafness, autosomal recessive 25"	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.446T>C	4.37:g.42964970T>C	ENSP00000382670:p.Val149Ala						p.V149A	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN			2	446	+			149			Glutaredoxin.			Missense_Mutation	SNP	ENST00000399770.2	37	c.446T>C	CCDS43225.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.635716	0.87760	.	.	ENSG00000215203	ENST00000399770	T	0.22743	1.94	5.78	5.78	0.91487	Glutaredoxin (2);Thioredoxin-like fold (2);	0.000000	0.64402	U	0.000009	T	0.52500	0.1738	M	0.86502	2.82	0.58432	D	0.999999	D	0.69078	0.997	D	0.79108	0.992	T	0.60454	-0.7260	10	0.72032	D	0.01	-9.2496	15.2809	0.73784	0.0:0.0:0.0:1.0	.	149	A8MXD5	GRCR1_HUMAN	A	149	ENSP00000382670:V149A	ENSP00000382670:V149A	V	+	2	0	GRXCR1	42659727	1.000000	0.71417	0.960000	0.40013	0.958000	0.62258	7.698000	0.84413	2.199000	0.70637	0.533000	0.62120	GTC		0.388	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476		4	80	0	0	0	0.150653	0	4	80					C	42964970	T	C	42964970	3	2	106	1	0	0	0	0	1	0	0	0	6812	1667	58	3	452	3	GRXCR1	4	42964970	Missense_Mutation	SNP	T	TCGA-DJ-A2Q2-01A-11D-A19J-08		42964970	148189306	5	2264											
CTNND2	1501	broad.mit.edu	37	chr5	11098687	11098687	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtaatgaactggccatacCttccagctccctgcagccaa	7	14	0	1			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr5:11098687C>T	ENST00000304623.8	-	15	2826	c.2637G>A	c.(2635-2637)aaG>aaA	p.K879K	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Splice_Site_p.K788K|CTNND2_ENST00000458100.2_Splice_Site_p.K446K|CTNND2_ENST00000503622.1_Splice_Site_p.K542K|CTNND2_ENST00000359640.2_Intron	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	879					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTGGCCATACCTTCCAGCTCC	0.463																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.e15+1		catenin (cadherin-associated protein), delta 2							59	58	58					5																	11098687		2203	4300	6503	SO:0001630	splice_region_variant	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11098687C>T	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2637+1G>A	5.37:g.11098687C>T						CTNND2_ENST00000458100.2_Splice_Site_p.K446_splice|CTNND2_ENST00000511377.1_Splice_Site_p.K788_splice|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Splice_Site_p.K542_splice|CTNND2_ENST00000359640.2_Intron	p.K879_splice	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			15	2826	-			879					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Splice_Site	SNP	ENST00000304623.8	37	c.2637_splice	CCDS3881.1																																																																																				0.463	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332	Silent	4	62	0	0	0	0.150653	0	4	62					T	11098687	C	T	11098687	5	4	106	1	0	0	0	0	0	0	1	0	4020	695	24	2	1072	2	CTNND2	5	11098687	Splice_Site	SNP	C	TCGA-DJ-A2Q2-01A-11D-A19J-08		11098687	169816573	6	2265											
RASGRF2	5924	broad.mit.edu	37	chr5	80508237	80508237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatgctgatgtcagctcccGtgccaacgccatcgagaaat	9	13	1	2			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr5:80508237G>A	ENST00000265080.4	+	23	3276	c.3209G>A	c.(3208-3210)cGt>cAt	p.R1070H	CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000511495.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	1070	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GTCAGCTCCCGTGCCAACGCC	0.542																																						ENST00000265080.4																			0				biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(3208-3210)cGt>cAt		Ras protein-specific guanine nucleotide-releasing factor 2							63	57	59					5																	80508237		2203	4300	6503	SO:0001583	missense	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80508237G>A	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.3209G>A	5.37:g.80508237G>A	ENSP00000265080:p.Arg1070His					CTC-281B15.1_ENST00000503483.2_RNA|CTC-281B15.1_ENST00000511495.1_RNA	p.R1070H	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	23	3276	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	1070			Ras-GEF.		B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.3209G>A	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580562	0.86645	.	.	ENSG00000113319	ENST00000265080	T	0.70986	-0.53	5.84	4.06	0.47325	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.096157	0.64402	D	0.000003	D	0.89399	0.6704	H	0.98295	4.195	0.53005	D	0.999965	D	0.89917	1.0	D	0.91635	0.999	D	0.91147	0.4950	10	0.87932	D	0	.	11.4321	0.50047	0.0683:0.1267:0.805:0.0	.	1070	O14827	RGRF2_HUMAN	H	1070	ENSP00000265080:R1070H	ENSP00000265080:R1070H	R	+	2	0	RASGRF2	80543993	1.000000	0.71417	0.057000	0.19452	0.986000	0.74619	9.864000	0.99589	0.806000	0.34183	0.655000	0.94253	CGT		0.542	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		11	34	0	0	0	0.411799	0	11	34					A	80508237	G	A	80508237	3	1	106	1	0	0	0	0	1	0	0	0	13073	1145	40	1	3299	1	RASGRF2	5	80508237	Missense_Mutation	SNP	G	TCGA-DJ-A2Q2-01A-11D-A19J-08	69409550	80508237	100407023	7	2266											
TWISTNB	221830	broad.mit.edu	37	chr7	19738204	19738204	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cttccattggagtgtcatctGcatcatctgctagctttgtg	9	10	4	0	rs555342790	byFrequency	TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr7:19738204G>C	ENST00000222567.5	-	4	822	c.752C>G	c.(751-753)gCa>gGa	p.A251G		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	251	Lys-rich.				transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						AGTGTCATCTGCATCATCTGC	0.433													G|||	12	0.00239617	0	0	5008	,	,		17396	0.001		0	False		,,,				2504	0.0112					ENST00000222567.5																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						c.(751-753)gCa>gGa		TWIST neighbor							268	279	275					7																	19738204		2203	4300	6503	SO:0001583	missense	221830					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	g.chr7:19738204G>C	AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.752C>G	7.37:g.19738204G>C	ENSP00000222567:p.Ala251Gly						p.A251G	NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN			4	822	-			251			Lys-rich.		A0PJ45|B7Z724	Missense_Mutation	SNP	ENST00000222567.5	37	c.752C>G	CCDS34606.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108219	0.37242	.	.	ENSG00000105849	ENST00000222567	.	.	.	4.99	3.12	0.35913	.	0.956275	0.08858	N	0.883396	T	0.40067	0.1102	L	0.56769	1.78	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.34700	-0.9818	9	0.18710	T	0.47	-0.0331	4.85	0.13531	0.0808:0.1489:0.6162:0.1541	.	251	Q3B726	RPA43_HUMAN	G	251	.	ENSP00000222567:A251G	A	-	2	0	TWISTNB	19704729	0.000000	0.05858	0.027000	0.17364	0.571000	0.35966	0.184000	0.16939	0.593000	0.29745	0.484000	0.47621	GCA		0.433	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1			10	224	0	0	0	0.361761	0	10	224					C	19738204	G	C	19738204	3	2	106	1	0	0	0	0	1	0	0	0	16781	1319	46	4	268	4	TWISTNB	7	19738204	Missense_Mutation	SNP	G	TCGA-DJ-A2Q2-01A-11D-A19J-08		19738204	139400459	8	2267											
KTN1	3895	broad.mit.edu	37	chr14	56139949	56139949	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gattcatattctgaagcagtAagacagaatgaagagctaaa	9	5	2	5			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr14:56139949A>G	ENST00000395314.3	+	40	3815	c.3747A>G	c.(3745-3747)gtA>gtG	p.V1249V	KTN1_ENST00000554507.1_Intron|KTN1_ENST00000395308.1_Intron|KTN1_ENST00000416613.1_Silent_p.V1249V|KTN1_ENST00000438792.2_Intron|KTN1_ENST00000395309.3_Silent_p.V1249V|KTN1_ENST00000395311.1_Intron|KTN1_ENST00000555573.1_Intron|KTN1_ENST00000413890.2_Intron	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	1249					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						CTGAAGCAGTAAGACAGAATG	0.373			T	RET	papillary thryoid																																	ENST00000416613.1				Dom	yes		14	14q22.1	3895	T	kinectin 1 (kinesin receptor)			E	RET		papillary thryoid		0				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(3745-3747)gtA>gtG		kinectin 1 (kinesin receptor)							87	85	85					14																	56139949		2203	4300	6503	SO:0001819	synonymous_variant	0				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction		g.chr14:56139949A>G		CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.3747A>G	14.37:g.56139949A>G						KTN1_ENST00000438792.2_Intron|KTN1_ENST00000395314.3_Silent_p.V1249V|KTN1_ENST00000554507.1_Intron|KTN1_ENST00000395309.3_Silent_p.V1249V|KTN1_ENST00000555573.1_Intron|KTN1_ENST00000395308.1_Intron|KTN1_ENST00000395311.1_Intron|KTN1_ENST00000413890.2_Intron	p.V1249V			Q86UP2	KTN1_HUMAN			39	3819	+			1249					B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Silent	SNP	ENST00000395314.3	37	c.3747A>G	CCDS41957.1																																																																																				0.373	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2			3	17	0	0	0	0.150653	0	3	17					G	56139949	A	G	56139949	2	3	106	1	0	0	0	0	0	0	0	1	8585	349	13	3		3	KTN1	14	56139949	Silent	SNP	A	TCGA-DJ-A2Q2-01A-11D-A19J-08		56139949	51209591	9	2268											
CNTNAP1	8506	broad.mit.edu	37	chr17	40836233	40836233	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggacaccgttctaccagCgagggcacaactcggtactc	11	14	1	0			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr17:40836233C>T	ENST00000264638.4	+	3	566	c.349C>T	c.(349-351)Cga>Tga	p.R117*	CCR10_ENST00000591765.1_5'Flank|CCR10_ENST00000332438.4_5'Flank|CTD-3193K9.4_ENST00000593139.1_RNA|CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	117	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GTTCTACCAGCGAGGGCACAA	0.612																																						ENST00000264638.4																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(349-351)Cga>Tga		contactin associated protein 1							102	104	103					17																	40836233		2203	4300	6503	SO:0001587	stop_gained	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40836233C>T	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"neurexin 4"	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.349C>T	17.37:g.40836233C>T	ENSP00000264638:p.Arg117*					CTD-3193K9.3_ENST00000592440.1_RNA	p.R117*	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	3	566	+		Breast(137;0.000143)	117			F5/8 type C.			Nonsense_Mutation	SNP	ENST00000264638.4	37	c.349C>T	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	C	37	6.588271	0.97684	.	.	ENSG00000108797	ENST00000264638	.	.	.	5.42	2.23	0.28157	.	1.154550	0.06474	N	0.731757	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	14.4318	0.67257	0.3828:0.6172:0.0:0.0	.	.	.	.	X	117	.	ENSP00000264638:R117X	R	+	1	2	CNTNAP1	38089759	0.944000	0.32072	0.407000	0.26434	0.972000	0.66771	1.680000	0.37607	0.231000	0.21079	0.462000	0.41574	CGA		0.612	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		17	134	0	0	0	0.557998	0	17	134					T	40836233	C	T	40836233	4	4	106	1	0	0	0	0	0	1	0	0	3646	760	27	1	359	1	CNTNAP1	17	40836233	Nonsense_Mutation	SNP	C	TCGA-DJ-A2Q2-01A-11D-A19J-08		40836233	40358977	10	2269											
PSG1	5669	broad.mit.edu	37	chr19	43382240	43382240	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatatataattatttcaccGtctactacatatgatgtaat	3	8	2	1	rs1058959		TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr19:43382240G>A	ENST00000436291.2	-	2	371	c.255C>T	c.(253-255)gaC>gaT	p.D85D	PSG1_ENST00000403380.3_Silent_p.D85D|PSG1_ENST00000595124.1_Silent_p.D85D|PSG1_ENST00000595356.1_Silent_p.D85D|PSG1_ENST00000244296.2_Silent_p.D85D|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000312439.6_Silent_p.D85D	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	85	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.D85E(2)		breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TTATTTCACCGTCTACTACAT	0.448																																						ENST00000244296.2																			2	Substitution - Missense(2)	p.D85E(2)	lung(2)	breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.(253-255)gaC>gaT		pregnancy specific beta-1-glycoprotein 1							257	250	253					19																	43382240		2202	4299	6501	SO:0001819	synonymous_variant	0							g.chr19:43382240G>A		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.255C>T	19.37:g.43382240G>A						PSG1_ENST00000595124.1_Silent_p.D85D|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000595356.1_Silent_p.D85D|PSG1_ENST00000436291.2_Silent_p.D85D|PSG1_ENST00000312439.6_Silent_p.D85D|PSG1_ENST00000403380.3_Silent_p.D85D	p.D85D	NM_006905.2	NP_008836.2					2	392	-		Prostate(69;0.00682)						O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Silent	SNP	ENST00000436291.2	37	c.255C>T	CCDS54275.1																																																																																				0.448	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			18	438	0	0	0	0.575678	0	18	438					A	43382240	G	A	43382240	2	1	106	1	0	0	0	0	0	0	0	1	12653	1136	40	1		1	PSG1	19	43382240	Silent	SNP	G	TCGA-DJ-A2Q2-01A-11D-A19J-08		43382240	15746743	11	2270											
PTCHD1	139411	broad.mit.edu	37	chrX	23411839	23411839	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctcacagttgtgtccgtggAgtttggagtgataggtttca	13	6	2	1			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chrX:23411839A>T	ENST00000379361.4	+	3	3064	c.2204A>T	c.(2203-2205)gAg>gTg	p.E735V		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	735					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GTGTCCGTGGAGTTTGGAGTG	0.413																																						ENST00000379361.4																			0				NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						c.(2203-2205)gAg>gTg		patched domain containing 1							156	133	141					X																	23411839		2203	4300	6503	SO:0001583	missense	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23411839A>T	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.2204A>T	X.37:g.23411839A>T	ENSP00000368666:p.Glu735Val						p.E735V	NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN			3	3064	+			735					B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	c.2204A>T	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	A	16.34	3.094441	0.56075	.	.	ENSG00000165186	ENST00000379361	D	0.85773	-2.03	5.18	5.18	0.71444	.	0.056235	0.64402	D	0.000001	T	0.80502	0.4635	L	0.46157	1.445	0.53688	D	0.999978	B	0.15141	0.012	B	0.24006	0.05	T	0.74328	-0.3701	10	0.14252	T	0.57	.	14.1343	0.65276	1.0:0.0:0.0:0.0	.	735	Q96NR3	PTHD1_HUMAN	V	735	ENSP00000368666:E735V	ENSP00000368666:E735V	E	+	2	0	PTCHD1	23321760	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.957000	0.93082	1.715000	0.51383	0.425000	0.28330	GAG		0.413	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		4	78	0	0	0	0.217242	0	4	78					T	23411839	A	T	23411839	3	4	106	1	0	0	0	0	1	0	0	0	12732	304	11	5	2214	5	PTCHD1	23	23411839	Missense_Mutation	SNP	A	TCGA-DJ-A2Q2-01A-11D-A19J-08		23411839	131858721	12	2271											
COL4A6	1288	broad.mit.edu	37	chrX	107417689	107417689	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cactttctcctggcattcctGggaaacctgtgatcccagag	9	13	1	2			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chrX:107417689G>C	ENST00000372216.4	-	31	3222	c.3122C>G	c.(3121-3123)cCa>cGa	p.P1041R	COL4A6_ENST00000394872.2_Missense_Mutation_p.P1041R|COL4A6_ENST00000538570.1_Missense_Mutation_p.P1040R|COL4A6_ENST00000545689.1_Missense_Mutation_p.P1040R|COL4A6_ENST00000334504.7_Missense_Mutation_p.P1040R	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1041	Triple-helical region.				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)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TGGCATTCCTGGGAAACCTGT	0.547									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000334504.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(3118-3120)cCa>cGa		collagen, type IV, alpha 6							68	68	68					X																	107417689		2203	4300	6503	SO:0001583	missense	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107417689G>C	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.3122C>G	X.37:g.107417689G>C	ENSP00000361290:p.Pro1041Arg					COL4A6_ENST00000538570.1_Missense_Mutation_p.P1040R|COL4A6_ENST00000372216.4_Missense_Mutation_p.P1041R|COL4A6_ENST00000394872.2_Missense_Mutation_p.P1041R|COL4A6_ENST00000545689.1_Missense_Mutation_p.P1040R	p.P1040R	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN			31	3352	-			1041			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.3119C>G	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.524268	0.27299	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.97066	-4.23;-4.23;-4.23;-4.23;-4.23	4.74	2.9	0.33743	.	0.198657	0.25217	N	0.032276	D	0.97629	0.9223	M	0.74881	2.28	0.39761	D	0.972029	D;D;D;P	0.67145	0.995;0.995;0.996;0.941	D;D;D;P	0.66716	0.91;0.91;0.946;0.854	D	0.97072	0.9778	10	0.72032	D	0.01	.	9.0755	0.36519	0.0809:0.0:0.7715:0.1476	.	1040;1040;1041;1040	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	R	1041;1040;1041;1040;1040;1040	ENSP00000361290:P1041R;ENSP00000334733:P1040R;ENSP00000378340:P1041R;ENSP00000443707:P1040R;ENSP00000445236:P1040R	ENSP00000334733:P1040R	P	-	2	0	COL4A6	107304345	1.000000	0.71417	1.000000	0.80357	0.529000	0.34654	4.732000	0.62029	0.478000	0.27488	0.538000	0.68166	CCA		0.547	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			11	85	0	0	0	0.457914	0	11	85					C	107417689	G	C	107417689	3	2	106	1	0	0	0	0	1	0	0	0	3695	1348	47	4	2013	4	COL4A6	23	107417689	Missense_Mutation	SNP	G	TCGA-DJ-A2Q2-01A-11D-A19J-08	84005850	107417689	47852871	13	2272											
FCRL5	83416	broad.mit.edu	37	chr1	157504590	157504590	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtataggatttgtggggaacCtctctggacttcacagtgaa	12	7	2	1			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr1:157504590C>A	ENST00000361835.3	-	8	1652	c.1495G>T	c.(1495-1497)Ggt>Tgt	p.G499C	FCRL5_ENST00000368190.3_Missense_Mutation_p.G499C|FCRL5_ENST00000368189.3_Missense_Mutation_p.G499C|FCRL5_ENST00000356953.4_Missense_Mutation_p.G499C|FCRL5_ENST00000368191.3_Missense_Mutation_p.G414C	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	499	Ig-like C2-type 5.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TGTGGGGAACCTCTCTGGACT	0.527																																						ENST00000361835.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85						c.(1495-1497)Ggt>Tgt		Fc receptor-like 5							57	56	56					1																	157504590		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157504590C>A	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1495G>T	1.37:g.157504590C>A	ENSP00000354691:p.Gly499Cys					FCRL5_ENST00000368191.3_Missense_Mutation_p.G414C|FCRL5_ENST00000356953.4_Missense_Mutation_p.G499C|FCRL5_ENST00000368189.3_Missense_Mutation_p.G499C|FCRL5_ENST00000368190.3_Missense_Mutation_p.G499C	p.G499C	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN			8	1652	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	499			Ig-like C2-type 5.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.1495G>T	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.323776	0.41096	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3	3.34	3.34	0.38264	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51635	0.1686	H	0.99391	4.545	0.40985	D	0.984806	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	T	0.69262	-0.5191	9	0.87932	D	0	.	10.3477	0.43916	0.0:1.0:0.0:0.0	.	530;414;499;499;499;499	B4DW39;F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;.;FCRL5_HUMAN	C	499;499;499;414;499	ENSP00000354691:G499C;ENSP00000349434:G499C;ENSP00000357173:G499C;ENSP00000357174:G414C;ENSP00000357172:G499C	ENSP00000349434:G499C	G	-	1	0	FCRL5	155771214	0.447000	0.25673	0.025000	0.17156	0.006000	0.05464	3.294000	0.51787	1.872000	0.54250	0.313000	0.20887	GGT		0.527	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		12	42	1	0	5.50884e-06	0.013537	9.01446e-06	12	42					A	157504590	C	A	157504590	3	1	107	1	0	0	0	0	1	0	0	0	5798	681	24	4	1478	4	FCRL5	1	157504590	Missense_Mutation	SNP	C	TCGA-DJ-A2Q3-01A-11D-A18F-08		157504590	91746031	1	2273											
LYPD6B	130576	broad.mit.edu	37	chr2	150017336	150017336	+	Intron	DEL	T	T	-													agaggagcctgacaaccacaTtctccttctcaaggtaagaa							TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr2:150017336delT	ENST00000409029.1	+	3	207				LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000450639.1_Frame_Shift_Del_p.F22fs|LYPD6B_ENST00000280115.7_Frame_Shift_Del_p.F22fs|LYPD6B_ENST00000409876.1_Intron|LYPD6B_ENST00000409642.3_Frame_Shift_Del_p.F22fs			Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B							anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						GACAACCACATTCTCCTTCTC	0.468																																						ENST00000409642.3																			0				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(64-66)tcfs		LY6/PLAUR domain containing 6B							60	53	55					2																	150017336		1857	4073	5930	SO:0001627	intron_variant	130576					anchored to membrane|plasma membrane		g.chr2:150017336delT		CCDS46423.1	2q23.2	2012-07-20			ENSG00000150556	ENSG00000150556			27018	protein-coding gene	gene with protein product	"cancer/testis antigen 116"					18360792	Standard	NM_177964		Approved	CT116, LYPD7	uc002twv.1	Q8NI32	OTTHUMG00000153743	ENST00000409029.1:c.5+29869T>-	2.37:g.150017336delT						LYPD6B_ENST00000409876.1_Intron|LYPD6B_ENST00000409029.1_Intron|LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000450639.1_Frame_Shift_Del_p.F22fs|LYPD6B_ENST00000280115.7_Frame_Shift_Del_p.F22fs	p.F22fs	NM_177964.3	NP_808879.2	Q8NI32	LPD6B_HUMAN			3	465	+			0					D3DP90|Q53TK0|Q7Z747|Q8IXK7	Frame_Shift_Del	DEL	ENST00000409029.1	37	c.64delT																																																																																					0.468	LYPD6B-003	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000332299.2	NM_177964		2	4						2	4	---	---	---	---	-	150017336	T	-	150017336	6	5	107	0	1	1	0	1	0	0	0	0	9115	1493	52	0		0	LYPD6B	2	150017336	Intron	DEL	T	TCGA-DJ-A2Q3-01A-11D-A18F-08		150017336	93182037	2	2274											
TTN	7273	broad.mit.edu	37	chr2	179419249	179419249	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatatttgttcacggctcGgacccggaagatgtattcat	9	10	2	1			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr2:179419249G>A	ENST00000591111.1	-	282	84126	c.83902C>T	c.(83902-83904)Cga>Tga	p.R27968*	TTN_ENST00000589042.1_Nonsense_Mutation_p.R29609*|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R20736*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R27041*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R20669*|TTN_ENST00000460472.2_Nonsense_Mutation_p.R20544*|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27968	Fibronectin type-III 103. {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)			TTCACGGCTCGGACCCGGAAG	0.433																																						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.(88825-88827)Cga>Tga		titin							39	40	40					2																	179419249		1877	4104	5981	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179419249G>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.83902C>T	2.37:g.179419249G>A	ENSP00000465570:p.Arg27968*					TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R27041*|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R20544*|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.R27968*|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R20669*|TTN_ENST00000342175.6_Nonsense_Mutation_p.R20736*|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA	p.R29609*	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)		332	89049	-			27968			Ig-like 135.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.88825C>T		.	.	.	.	.	.	.	.	.	.	G	66	94.523692	0.99997	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.3178	0.74095	0.0:0.0:0.8602:0.1398	.	.	.	.	X	27041;20544;20736;20669;20541	.	ENSP00000340554:R20736X	R	-	1	2	TTN	179127495	1.000000	0.71417	0.997000	0.53966	0.905000	0.53344	3.363000	0.52321	2.941000	0.99782	0.655000	0.94253	CGA		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	21	0	0	0	0.004482	0	9	21					A	179419249	G	A	179419249	4	1	107	1	0	0	0	0	0	1	0	0	16732	1124	39	1	19278	1	TTN	2	179419249	Nonsense_Mutation	SNP	G	TCGA-DJ-A2Q3-01A-11D-A18F-08	29401913	179419249	63780124	3	2275											
D2HGDH	728294	broad.mit.edu	37	chr2	242680473	242680473	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaaggtgctgctgaggccAcggacgtcggaggaggtgtc	18	9	0	1			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr2:242680473A>G	ENST00000321264.4	+	3	527	c.318A>G	c.(316-318)ccA>ccG	p.P106P	D2HGDH_ENST00000342518.6_Silent_p.P106P|D2HGDH_ENST00000403782.1_5'UTR|D2HGDH_ENST00000537090.1_Silent_p.P106P	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	106	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		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;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-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;0.0833)		TGCTGAGGCCACGGACGTCGG	0.622																																						ENST00000321264.4																			0				breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16						c.(316-318)ccA>ccG		D-2-hydroxyglutarate dehydrogenase							60	52	54					2																	242680473		2203	4296	6499	SO:0001819	synonymous_variant	728294				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding	g.chr2:242680473A>G	AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.318A>G	2.37:g.242680473A>G						D2HGDH_ENST00000403782.1_5'UTR|D2HGDH_ENST00000342518.6_Silent_p.P106P|D2HGDH_ENST00000537090.1_Silent_p.P106P	p.P106P	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-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;0.0833)	3	527	+		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)	106			FAD-binding PCMH-type.		B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Silent	SNP	ENST00000321264.4	37	c.318A>G	CCDS33426.1																																																																																				0.622	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	NM_152783		4	26	0	0	0	0.001168	0	4	26					G	242680473	A	G	242680473	2	3	107	1	0	0	0	0	0	0	0	1	4213	146	6	3		3	D2HGDH	2	242680473	Silent	SNP	A	TCGA-DJ-A2Q3-01A-11D-A18F-08	63261224	242680473	518900	4	2276											
CCRL1	51554	broad.mit.edu	37	chr3	132319255	132319255	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagccatggctttggaacAgaaccagtcaacagattatt	10	8	1	2			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr3:132319255A>C	ENST00000249887.2	+	2	110	c.14A>C	c.(13-15)cAg>cCg	p.Q5P	ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1	Q9NPB9	ACKR4_HUMAN	atypical chemokine receptor 4	5					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										GCTTTGGAACAGAACCAGTCA	0.338																																						ENST00000249887.2																			0											c.(13-15)cAg>cCg		atypical chemokine receptor 4							27	26	26					3																	132319255		2200	4299	6499	SO:0001583	missense	51554							g.chr3:132319255A>C	AF110640	CCDS3075.1	3q22	2013-07-17	2013-07-16	2013-07-16	ENSG00000129048	ENSG00000129048		"GPCR / Class A : Chemokine receptors : Atypical"	1611	protein-coding gene	gene with protein product		606065	"chemokine (C-C motif) receptor-like 1"	CCRL1		10767544, 16148	Standard	NM_016557		Approved	CCR11, CCBP2, VSHK1, CCX-CKR, PPR1	uc003eow.3	Q9NPB9	OTTHUMG00000159768	ENST00000249887.2:c.14A>C	3.37:g.132319255A>C	ENSP00000249887:p.Gln5Pro					ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000264990.6_Intron	p.Q5P	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1					2	110	+								B2R9U7	Missense_Mutation	SNP	ENST00000249887.2	37	c.14A>C	CCDS3075.1	.	.	.	.	.	.	.	.	.	.	A	9.287	1.049731	0.19827	.	.	ENSG00000129048	ENST00000249887;ENST00000424114	T	0.60920	0.15	5.22	1.28	0.21552	.	0.769696	0.12089	N	0.500594	T	0.42765	0.1217	L	0.36672	1.1	0.22280	N	0.999236	B	0.27068	0.167	B	0.28011	0.085	T	0.27872	-1.0061	10	0.30854	T	0.27	.	5.5241	0.16949	0.5214:0.0:0.0755:0.4031	.	5	Q9NPB9	CCRL1_HUMAN	P	5	ENSP00000249887:Q5P	ENSP00000249887:Q5P	Q	+	2	0	CCRL1	133801945	0.374000	0.25081	0.827000	0.32855	0.940000	0.58332	1.230000	0.32612	-0.022000	0.13986	0.482000	0.46254	CAG		0.338	ACKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357238.2	NM_016557		5	7	0	0	0	0.001168	0	5	7					C	132319255	A	C	132319255	3	2	107	1	0	0	0	0	1	0	0	0	2949	188	7	5	16	5	CCRL1	3	132319255	Missense_Mutation	SNP	A	TCGA-DJ-A2Q3-01A-11D-A18F-08		132319255	65703175	5	2277											
GPR151	134391	broad.mit.edu	37	chr5	145895152	145895152	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcatgatgcctgatggtgctAaagaaccattccggcagggg	13	9	1	3	rs558001563	byFrequency	TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr5:145895152A>T	ENST00000311104.2	-	1	601	c.525T>A	c.(523-525)ttT>ttA	p.F175L		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGATGGTGCTAAAGAACCATT	0.522																																					Pancreas(78;420 1386 18535 37114 49710)	ENST00000311104.2																			0				endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14						c.(523-525)ttT>ttA		G protein-coupled receptor 151							104	92	96					5																	145895152		2203	4300	6503	SO:0001583	missense	134391					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr5:145895152A>T	AY255557	CCDS34266.1	5q32	2012-08-21						"GPCR / Class A : Orphans"	23624	protein-coding gene	gene with protein product	"galanin receptor 4"					12679517	Standard	NM_194251		Approved	PGR7, GALR4	uc003lod.1	Q8TDV0		ENST00000311104.2:c.525T>A	5.37:g.145895152A>T	ENSP00000308733:p.Phe175Leu						p.F175L	NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	601	-			175					Q86SN8|Q8NGV2	Missense_Mutation	SNP	ENST00000311104.2	37	c.525T>A	CCDS34266.1	.	.	.	.	.	.	.	.	.	.	A	18.29	3.592426	0.66219	.	.	ENSG00000173250	ENST00000311104	T	0.71103	-0.54	5.61	-10.6	0.00265	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.78723	0.4328	M	0.64997	1.995	0.24499	N	0.994263	D	0.89917	1.0	D	0.91635	0.999	T	0.80908	-0.1172	10	0.49607	T	0.09	.	23.5718	0.99984	0.2322:0.0:0.7678:0.0	.	175	Q8TDV0	GP151_HUMAN	L	175	ENSP00000308733:F175L	ENSP00000308733:F175L	F	-	3	2	GPR151	145875345	0.018000	0.18449	0.116000	0.21606	0.893000	0.52053	-1.282000	0.02799	-2.230000	0.00719	-0.290000	0.09829	TTT		0.522	GPR151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373457.1	NM_194251		12	39	0	0	0	0.016723	0	12	39					T	145895152	A	T	145895152	3	4	107	1	0	0	0	0	1	0	0	0	6657	359	13	5	738	5	GPR151	5	145895152	Missense_Mutation	SNP	A	TCGA-DJ-A2Q3-01A-11D-A18F-08		145895152	35020108	6	2278											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		10	50	0	0	0	0.016723	0	10	50					T	140453136	A	T	140453136	3	4	107	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2Q3-01A-11D-A18F-08		140453136	18685527	7	2279											
SH2D4A	63898	broad.mit.edu	37	chr8	19231046	19231046	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttataaataacagaaatcAgggagtggtgaggacactgt	11	4	1	2			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr8:19231046A>G	ENST00000265807.3	+	8	1334	c.923A>G	c.(922-924)cAg>cGg	p.Q308R	SH2D4A_ENST00000518040.1_Missense_Mutation_p.Q263R|SH2D4A_ENST00000519207.1_Missense_Mutation_p.Q308R	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	308					negative regulation of phosphatase activity (GO:0010923)	cytoplasm (GO:0005737)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		AACAGAAATCAGGGAGTGGTG	0.383																																						ENST00000265807.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16						c.(922-924)cAg>cGg		SH2 domain containing 4A							50	46	48					8																	19231046		2203	4300	6503	SO:0001583	missense	63898					cytoplasm|nucleus	protein binding	g.chr8:19231046A>G	AY190323	CCDS6009.1, CCDS55206.1	8p21	2013-02-14			ENSG00000104611	ENSG00000104611		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "SH2 domain containing"	26102	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 38"	614968					Standard	NM_022071		Approved	FLJ20967, SH2A, PPP1R38	uc003wzc.3	Q9H788	OTTHUMG00000097005	ENST00000265807.3:c.923A>G	8.37:g.19231046A>G	ENSP00000265807:p.Gln308Arg					SH2D4A_ENST00000519207.1_Missense_Mutation_p.Q308R|SH2D4A_ENST00000518040.1_Missense_Mutation_p.Q263R	p.Q308R	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN		Colorectal(111;0.0732)	8	1334	+			308					B4DDR1|Q5XKC1|Q6NXE9|Q86YM2|Q96C88|Q9H7F7	Missense_Mutation	SNP	ENST00000265807.3	37	c.923A>G	CCDS6009.1	.	.	.	.	.	.	.	.	.	.	A	11.19	1.564422	0.27915	.	.	ENSG00000104611	ENST00000265807;ENST00000518040;ENST00000519207	T;T;T	0.14391	2.51;2.51;2.51	5.99	3.51	0.40186	.	0.238747	0.36444	N	0.002587	T	0.09555	0.0235	L	0.47190	1.495	0.09310	N	0.999995	B;B	0.33549	0.417;0.037	B;B	0.24269	0.052;0.021	T	0.30268	-0.9984	10	0.09084	T	0.74	.	10.2529	0.43379	0.6795:0.3205:0.0:0.0	.	263;308	B4DDR1;Q9H788	.;SH24A_HUMAN	R	308;263;308	ENSP00000265807:Q308R;ENSP00000429482:Q263R;ENSP00000428684:Q308R	ENSP00000265807:Q308R	Q	+	2	0	SH2D4A	19275326	0.125000	0.22332	0.007000	0.13788	0.792000	0.44763	0.324000	0.19610	0.457000	0.26962	0.533000	0.62120	CAG		0.383	SH2D4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214094.1	NM_022071		3	30	0	0	0	0.014758	0	3	30					G	19231046	A	G	19231046	3	3	107	1	0	0	0	0	1	0	0	0	14235	188	7	3	999	3	SH2D4A	8	19231046	Missense_Mutation	SNP	A	TCGA-DJ-A2Q3-01A-11D-A18F-08		19231046	127132976	8	2280											
NEFM	4741	broad.mit.edu	37	chr8	24774945	24774945	+	Frame_Shift_Del	DEL	A	A	-													agttaaagaagaggaaggggAaaaggaggaagaagaaggcc							TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr8:24774945delA	ENST00000221166.5	+	3	2359	c.1577delA	c.(1576-1578)gaafs	p.E526fs	NEFM_ENST00000518131.1_Frame_Shift_Del_p.E526fs|NEFM_ENST00000437366.2_Frame_Shift_Del_p.E526fs|NEFM_ENST00000433454.2_Frame_Shift_Del_p.E150fs|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000521540.1_Intron			P07197	NFM_HUMAN	neurofilament, medium polypeptide	526	Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		gaggaaggggaaaaggaggaa	0.488																																						ENST00000221166.5																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36						c.(1576-1578)gafs		neurofilament, medium polypeptide							31	36	34					8																	24774945		2190	4270	6460	SO:0001589	frameshift_variant	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24774945delA	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"Intermediate filaments type IV"	7734	protein-coding gene	gene with protein product		162250	"neurofilament, medium polypeptide 150kDa"	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.1577delA	8.37:g.24774945delA	ENSP00000221166:p.Glu526fs					NEFM_ENST00000518131.1_Frame_Shift_Del_p.E526fs|NEFM_ENST00000433454.2_Frame_Shift_Del_p.E150fs|NEFM_ENST00000437366.2_Frame_Shift_Del_p.E526fs|NEFM_ENST00000521540.1_Intron	p.E526fs			P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	3	2359	+		Prostate(55;0.157)	526			Tail.		B4DGN2|E9PBF7|Q4QRK6	Frame_Shift_Del	DEL	ENST00000221166.5	37	c.1577delA	CCDS6046.1																																																																																				0.488	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		2	4						2	4	---	---	---	---	-	24774945	A	-	24774945	7	5	107	1	0	1	0	1	0	0	0	0	10316	246	9	0	1587	0	NEFM	8	24774945	Frame_Shift_Del	DEL	A	TCGA-DJ-A2Q3-01A-11D-A18F-08	5543899	24774945	121589077	9	2281											
EBF2	64641	broad.mit.edu	37	chr8	25890631	25890631	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgactgggtccgatggagtcTcatttcggtttccacagctt	11	10	1	1			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr8:25890631T>C	ENST00000520164.1	-	6	1058	c.521A>G	c.(520-522)gAg>gGg	p.E174G	EBF2_ENST00000408929.3_Missense_Mutation_p.E26G	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	174					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CGATGGAGTCTCATTTCGGTT	0.393																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	ENST00000520164.1																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(520-522)gAg>gGg		early B-cell factor 2							143	142	143					8																	25890631		1954	4190	6144	SO:0001583	missense	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25890631T>C	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.521A>G	8.37:g.25890631T>C	ENSP00000430241:p.Glu174Gly					EBF2_ENST00000408929.3_Missense_Mutation_p.E26G	p.E174G	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	6	1058	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	174					A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	ENST00000520164.1	37	c.521A>G	CCDS43726.1	.	.	.	.	.	.	.	.	.	.	T	32	5.127760	0.94473	.	.	ENSG00000221818	ENST00000520164;ENST00000408929	T;T	0.58358	0.41;0.34	5.87	5.87	0.94306	.	0.218434	0.36665	U	0.002478	T	0.71719	0.3373	M	0.66439	2.03	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74408	-0.3675	10	0.87932	D	0	-1.7133	16.5764	0.84681	0.0:0.0:0.0:1.0	.	174	Q9HAK2	COE2_HUMAN	G	174;26	ENSP00000430241:E174G;ENSP00000386178:E26G	ENSP00000386178:E26G	E	-	2	0	EBF2	25946548	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.655000	0.83696	2.371000	0.80710	0.533000	0.62120	GAG		0.393	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		3	79	0	0	0	0.004672	0	3	79					C	25890631	T	C	25890631	3	2	107	1	0	0	0	0	1	0	0	0	4881	1551	54	3	1250	3	EBF2	8	25890631	Missense_Mutation	SNP	T	TCGA-DJ-A2Q3-01A-11D-A18F-08	1115686	25890631	120473391	10	2282											
UNC13B	10497	broad.mit.edu	37	chr9	35399705	35399705	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aagcagtgtgcagtccttgaCctcgccctggacaccatcaa	9	14	1	1			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr9:35399705C>G	ENST00000378495.3	+	35	4290	c.4068C>G	c.(4066-4068)gaC>gaG	p.D1356E	UNC13B_ENST00000378496.4_Missense_Mutation_p.D1356E|UNC13B_ENST00000396787.1_Missense_Mutation_p.D1368E	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1356	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CAGTCCTTGACCTCGCCCTGG	0.547																																						ENST00000378495.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(4066-4068)gaC>gaG		unc-13 homolog B (C. elegans)							210	184	193					9																	35399705		2203	4300	6503	SO:0001583	missense	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35399705C>G	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"unc-13-like (C. elegans)"	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.4068C>G	9.37:g.35399705C>G	ENSP00000367756:p.Asp1356Glu					UNC13B_ENST00000396787.1_Missense_Mutation_p.D1368E|UNC13B_ENST00000378496.4_Missense_Mutation_p.D1356E	p.D1356E	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		35	4290	+	all_epithelial(49;0.212)		1356			MHD2.		Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	c.4068C>G	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	C	9.709	1.156653	0.21454	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	T;T;T	0.72942	-0.7;-0.7;-0.7	5.55	5.55	0.83447	Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1);	0.042117	0.85682	D	0.000000	T	0.42854	0.1221	N	0.11789	0.175	0.58432	D	0.999992	P;B	0.40619	0.724;0.067	B;B	0.33690	0.168;0.062	T	0.54255	-0.8321	10	0.02654	T	1	-23.1917	9.7776	0.40630	0.0:0.678:0.2492:0.0728	.	1356;1356	F8W8M9;O14795	.;UN13B_HUMAN	E	1368;1356;1356;943	ENSP00000380006:D1368E;ENSP00000367756:D1356E;ENSP00000367757:D1356E	ENSP00000367756:D1356E	D	+	3	2	UNC13B	35389705	0.495000	0.26051	1.000000	0.80357	0.992000	0.81027	-0.203000	0.09438	2.894000	0.99253	0.655000	0.94253	GAC		0.547	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		11	159	0	0	0	0.013537	0	11	159					G	35399705	C	G	35399705	3	3	107	1	0	0	0	0	1	0	0	0	16982	506	18	4	4206	4	UNC13B	9	35399705	Missense_Mutation	SNP	C	TCGA-DJ-A2Q3-01A-11D-A18F-08		35399705	105813726	11	2283											
IFFO1	25900	broad.mit.edu	37	chr12	6659951	6659951	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcaggcatcagcctcctgGgcttcctgcagttgggagaa	14	11	1	1			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr12:6659951G>A	ENST00000396840.2	-	3	881	c.840C>T	c.(838-840)gcC>gcT	p.A280A	IFFO1_ENST00000356896.4_Silent_p.A280A|IFFO1_ENST00000336604.4_Silent_p.A280A|IFFO1_ENST00000436152.2_5'UTR|IFFO1_ENST00000465801.1_5'UTR			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	280						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						CAGCCTCCTGGGCTTCCTGCA	0.582																																						ENST00000336604.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(838-840)gcC>gcT		intermediate filament family orphan 1							89	67	75					12																	6659951		2203	4300	6503	SO:0001819	synonymous_variant	25900					intermediate filament		g.chr12:6659951G>A	AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"Intermediate filament family orphans"	24970	protein-coding gene	gene with protein product		610495	"intermediate filament family orphan"	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.840C>T	12.37:g.6659951G>A						IFFO1_ENST00000356896.4_Silent_p.A280A|IFFO1_ENST00000396840.2_Silent_p.A280A|IFFO1_ENST00000436152.2_5'UTR|IFFO1_ENST00000465801.1_5'UTR	p.A280A	NM_080730.4	NP_542768.2	Q0D2I5	IFFO1_HUMAN			3	881	-			280					Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Silent	SNP	ENST00000396840.2	37	c.840C>T		.	.	.	.	.	.	.	.	.	.	G	3.895	-0.023200	0.07634	.	.	ENSG00000010295	ENST00000416019	.	.	.	4.12	3.2	0.36748	.	.	.	.	.	T	0.59702	0.2213	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57335	-0.7829	4	.	.	.	-10.551	9.9253	0.41489	0.1655:0.0:0.8345:0.0	.	.	.	.	L	12	.	.	P	-	2	0	IFFO1	6530212	1.000000	0.71417	1.000000	0.80357	0.311000	0.27955	1.085000	0.30840	2.129000	0.65627	0.485000	0.47835	CCC		0.582	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730		11	43	0	0	0	0.008291	0	11	43					A	6659951	G	A	6659951	2	1	107	1	0	0	0	0	0	0	0	1	7510	1219	43	2		2	IFFO1	12	6659951	Silent	SNP	G	TCGA-DJ-A2Q3-01A-11D-A18F-08		6659951	127191944	12	2284											
FGD4	121512	broad.mit.edu	37	chr12	32778653	32778653	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgacaatgtgtatgaaAtgtaaagaacctttcaatgc	9	5	1	3			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr12:32778653A>T	ENST00000427716.2	+	14	2125	c.1701A>T	c.(1699-1701)aaA>aaT	p.K567N	FGD4_ENST00000534526.2_Missense_Mutation_p.K704N|FGD4_ENST00000266482.3_Missense_Mutation_p.K319N|FGD4_ENST00000525053.1_Missense_Mutation_p.K679N|FGD4_ENST00000531134.1_Missense_Mutation_p.K652N|FGD4_ENST00000546442.1_Missense_Mutation_p.K474N	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	567					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TGTGTATGAAATGTAAAGAAC	0.378																																						ENST00000427716.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27						c.(1699-1701)aaA>aaT		FYVE, RhoGEF and PH domain containing 4							125	121	122					12																	32778653		2203	4300	6503	SO:0001583	missense	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32778653A>T	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19125	protein-coding gene	gene with protein product		611104	"FGD1 family, member 4"			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.1701A>T	12.37:g.32778653A>T	ENSP00000394487:p.Lys567Asn					FGD4_ENST00000546442.1_Missense_Mutation_p.K474N|FGD4_ENST00000266482.3_Missense_Mutation_p.K319N|FGD4_ENST00000534526.2_Missense_Mutation_p.K704N|FGD4_ENST00000531134.1_Missense_Mutation_p.K652N|FGD4_ENST00000525053.1_Missense_Mutation_p.K679N	p.K567N	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN			14	2125	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		567					Q6ULS2|Q8TCP6	Missense_Mutation	SNP	ENST00000427716.2	37	c.1701A>T	CCDS8727.1	.	.	.	.	.	.	.	.	.	.	A	19.47	3.833434	0.71258	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000427716;ENST00000266482;ENST00000546442;ENST00000525053	T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	5.39	3.06	0.35304	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.117372	0.37761	N	0.001958	T	0.62768	0.2455	N	0.05280	-0.08	0.80722	D	1	P;P;D;P	0.67145	0.941;0.941;0.996;0.835	D;P;D;P	0.65443	0.926;0.871;0.935;0.549	T	0.62348	-0.6873	10	0.45353	T	0.12	-16.961	7.6891	0.28557	0.7702:0.0:0.2298:0.0	.	679;652;567;319	E9PJX4;B7Z493;Q96M96;G3XA97	.;.;FGD4_HUMAN;.	N	704;652;567;319;474;679	ENSP00000449273:K704N;ENSP00000431323:K652N;ENSP00000394487:K567N;ENSP00000266482:K319N;ENSP00000446695:K474N;ENSP00000433666:K679N	ENSP00000266482:K319N	K	+	3	2	FGD4	32669920	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.184000	0.42575	0.372000	0.24591	0.454000	0.30748	AAA		0.378	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		8	49	0	0	0	0.004482	0	8	49					T	32778653	A	T	32778653	3	4	107	1	0	0	0	0	1	0	0	0	5835	98	4	5	1747	5	FGD4	12	32778653	Missense_Mutation	SNP	A	TCGA-DJ-A2Q3-01A-11D-A18F-08	26118702	32778653	101073242	13	2285											
MARCH10	162333	broad.mit.edu	37	chr17	60837359	60837359	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagttagagcatcctcctcActagaactctaccaaaaatg	5	12	3	2			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr17:60837359A>C	ENST00000311269.5	-	4	493	c.219T>G	c.(217-219)agT>agG	p.S73R	MARCH10_ENST00000544856.2_Missense_Mutation_p.S73R|MARCH10_ENST00000456609.2_Missense_Mutation_p.S73R|MARCH10_ENST00000583600.1_Missense_Mutation_p.S73R	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	73					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CATCCTCCTCACTAGAACTCT	0.423																																						ENST00000544856.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						c.(217-219)agT>agG		membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase							179	154	162					17																	60837359		2203	4300	6503	SO:0001583	missense	162333						ligase activity|zinc ion binding	g.chr17:60837359A>C	AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"RING-type (C3HC4) zinc fingers", "MARCH membrane-associated ring fingers"	26655	protein-coding gene	gene with protein product		613337	"ring finger protein 190", "membrane-associated ring finger (C3HC4) 10"	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.219T>G	17.37:g.60837359A>C	ENSP00000311496:p.Ser73Arg					MARCH10_ENST00000311269.5_Missense_Mutation_p.S73R|MARCH10_ENST00000583600.1_Missense_Mutation_p.S73R|MARCH10_ENST00000456609.2_Missense_Mutation_p.S73R	p.S73R			Q8NA82	MARHA_HUMAN			5	597	-			73					D3DU09|Q8IYS7|Q8N7Z7	Missense_Mutation	SNP	ENST00000311269.5	37	c.219T>G	CCDS11635.1	.	.	.	.	.	.	.	.	.	.	A	9.208	1.030124	0.19512	.	.	ENSG00000173838	ENST00000456609;ENST00000311269;ENST00000544856	T;T;T	0.23147	1.92;1.92;1.92	5.93	0.669	0.17918	.	1.179000	0.06361	N	0.711690	T	0.13586	0.0329	N	0.08118	0	0.09310	N	1	P;P;P	0.37864	0.475;0.61;0.475	B;B;B	0.35413	0.1;0.202;0.1	T	0.27054	-1.0085	10	0.54805	T	0.06	3.218	7.8661	0.29539	0.4534:0.4136:0.0:0.133	.	73;73;73	B3KVK0;G3V1Q5;Q8NA82	.;.;MARHA_HUMAN	R	73	ENSP00000416177:S73R;ENSP00000311496:S73R;ENSP00000443746:S73R	ENSP00000311496:S73R	S	-	3	2	MARCH10	58191091	0.098000	0.21812	0.042000	0.18584	0.021000	0.10359	0.242000	0.18087	0.090000	0.17273	-0.313000	0.08912	AGT		0.423	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		13	52	0	0	0	0.013537	0	13	52					C	60837359	A	C	60837359	3	2	107	1	0	0	0	0	1	0	0	0	9299	156	6	5	2239	5	MARCH10	17	60837359	Missense_Mutation	SNP	A	TCGA-DJ-A2Q3-01A-11D-A18F-08		60837359	20357851	14	2286											
GNAL	2774	broad.mit.edu	37	chr18	11753670	11753670	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acatccggaaaaatgttaaaGatgctatcgtggtaaggact	10	6	0	1			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr18:11753670G>A	ENST00000423027.3	+	3	583	c.262G>A	c.(262-264)Gat>Aat	p.D88N	GNAL_ENST00000590972.1_3'UTR|GNAL_ENST00000535121.1_Missense_Mutation_p.D88N|GNAL_ENST00000269162.5_Missense_Mutation_p.D88N|GNAL_ENST00000334049.6_Missense_Mutation_p.D165N			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	88					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						AAATGTTAAAGATGCTATCGT	0.318																																						ENST00000334049.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						c.(493-495)Gat>Aat		guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type							67	68	67					18																	11753670		2203	4300	6503	SO:0001583	missense	2774				activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr18:11753670G>A	AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.262G>A	18.37:g.11753670G>A	ENSP00000408489:p.Asp88Asn					GNAL_ENST00000423027.3_Missense_Mutation_p.D88N|GNAL_ENST00000269162.5_Missense_Mutation_p.D88N|GNAL_ENST00000535121.1_Missense_Mutation_p.D88N	p.D165N	NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN			3	1101	+			88					B7ZA26|Q86XU3	Missense_Mutation	SNP	ENST00000423027.3	37	c.493G>A	CCDS11852.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243575	0.79912	.	.	ENSG00000141404	ENST00000540217;ENST00000334049;ENST00000535121;ENST00000269162;ENST00000423027	D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37	5.82	5.82	0.92795	G protein alpha subunit, helical insertion (2);	0.044283	0.85682	D	0.000000	D	0.94231	0.8148	M	0.76574	2.34	0.80722	D	1	P;D	0.58970	0.776;0.984	P;D	0.64410	0.601;0.925	D	0.94100	0.7361	10	0.72032	D	0.01	.	20.0926	0.97825	0.0:0.0:1.0:0.0	.	88;165	P38405;Q86XU3	GNAL_HUMAN;.	N	27;165;88;88;88	ENSP00000334051:D165N;ENSP00000439023:D88N;ENSP00000269162:D88N;ENSP00000408489:D88N	ENSP00000269162:D88N	D	+	1	0	GNAL	11743670	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	9.471000	0.97696	2.745000	0.94114	0.561000	0.74099	GAT		0.318	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254561.2	NM_182978, NM_002071		11	16	0	0	0	0.016723	0	11	16					A	11753670	G	A	11753670	3	1	107	1	0	0	0	0	1	0	0	0	6507	942	33	2	652	2	GNAL	18	11753670	Missense_Mutation	SNP	G	TCGA-DJ-A2Q3-01A-11D-A18F-08		11753670	66323578	15	2287											
UBXN6	80700	broad.mit.edu	37	chr19	4446104	4446104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcttctgccctcccgagGccagcagctcaaaaggcagc	10	16	2	0			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr19:4446104G>A	ENST00000301281.6	-	10	1266	c.1142C>T	c.(1141-1143)gCc>gTc	p.A381V	CTB-50L17.7_ENST00000588798.1_RNA|UBXN6_ENST00000394765.3_Missense_Mutation_p.A328V|MIR4746_ENST00000579802.1_RNA	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	381	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						CCCTCCCGAGGCCAGCAGCTC	0.677																																						ENST00000301281.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						c.(1141-1143)gCc>gTc		UBX domain protein 6							41	41	41					19																	4446104		2203	4300	6503	SO:0001583	missense	80700					microtubule organizing center|nucleus	protein binding	g.chr19:4446104G>A	AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"UBX domain containing"	14928	protein-coding gene	gene with protein product		611946	"UBX domain-containing 1", "UBX domain containing 1"	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.1142C>T	19.37:g.4446104G>A	ENSP00000301281:p.Ala381Val					UBXN6_ENST00000394765.3_Missense_Mutation_p.A328V	p.A381V	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN			10	1266	-			381			UBX.		D6W626|Q96AH1|Q96IK9|Q9BZV0	Missense_Mutation	SNP	ENST00000301281.6	37	c.1142C>T	CCDS12129.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961089	0.92791	.	.	ENSG00000167671	ENST00000301281;ENST00000394765	T;T	0.40756	1.02;1.02	5.66	5.66	0.87406	UBX (3);	0.154726	0.56097	D	0.000027	T	0.54549	0.1865	L	0.46157	1.445	0.58432	D	0.999995	B;D	0.69078	0.321;0.997	B;D	0.65140	0.193;0.932	T	0.44236	-0.9341	10	0.30854	T	0.27	-33.1332	15.0391	0.71774	0.0:0.1526:0.8474:0.0	.	328;381	Q9BZV1-2;Q9BZV1	.;UBXN6_HUMAN	V	381;328	ENSP00000301281:A381V;ENSP00000378246:A328V	ENSP00000301281:A381V	A	-	2	0	UBXN6	4397104	1.000000	0.71417	0.991000	0.47740	0.974000	0.67602	4.805000	0.62561	2.679000	0.91253	0.561000	0.74099	GCC		0.677	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458447.3	NM_025241		8	36	0	0	0	0.00308	0	8	36					A	4446104	G	A	4446104	3	1	107	1	0	0	0	0	1	0	0	0	16914	1203	42	2	191	2	UBXN6	19	4446104	Missense_Mutation	SNP	G	TCGA-DJ-A2Q3-01A-11D-A18F-08		4446104	54682879	16	2288											
C19orf60	55049	broad.mit.edu	37	chr19	18701721	18701721	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggggcaggaggacgctgtaCggatgcagcagctgaaaatg	17	8	0	1			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr19:18701721C>T	ENST00000358607.6	+	4	588	c.511C>T	c.(511-513)Cgg>Tgg	p.R171W	CRLF1_ENST00000594325.1_Intron|C19orf60_ENST00000450195.2_Missense_Mutation_p.R149W	NM_001100418.1|NM_001100419.1	NP_001093888.1|NP_001093889.1	Q96EN9	CS060_HUMAN	chromosome 19 open reading frame 60	171																	GGACGCTGTACGGATGCAGCA	0.622																																						ENST00000358607.6																			0											c.(511-513)Cgg>Tgg		chromosome 19 open reading frame 60							34	39	37					19																	18701721		2110	4233	6343	SO:0001583	missense	55049						protein binding	g.chr19:18701721C>T	AK000857	CCDS42524.1, CCDS46019.1	19p13.11	2012-10-26			ENSG00000006015	ENSG00000006015			26098	protein-coding gene	gene with protein product						12477932	Standard	NM_001100419		Approved	FLJ20850, FLJ30108, FLJ34606, FLJ37391	uc010ebs.3	Q96EN9		ENST00000358607.6:c.511C>T	19.37:g.18701721C>T	ENSP00000351422:p.Arg171Trp					CRLF1_ENST00000594325.1_Intron|C19orf60_ENST00000450195.2_Missense_Mutation_p.R149W	p.R171W	NM_001100418.1|NM_001100419.1	NP_001093888.1|NP_001093889.1	Q96EN9	CS060_HUMAN			4	588	+			171					E9PAS0|Q8NAX4|Q9NWI0	Missense_Mutation	SNP	ENST00000358607.6	37	c.511C>T	CCDS42524.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592501	0.46214	.	.	ENSG00000006015	ENST00000358607;ENST00000450195	.	.	.	3.43	1.13	0.20643	.	7739.210000	0.00628	N	0.000463	T	0.22126	0.0533	N	0.08118	0	0.09310	N	1	P;D;P	0.63880	0.831;0.993;0.947	B;P;B	0.46975	0.157;0.533;0.157	T	0.17561	-1.0365	9	0.72032	D	0.01	-0.9497	5.5047	0.16848	0.2293:0.5374:0.2334:0.0	.	149;171;183	E9PAS0;Q96EN9;Q96EN9-2	.;CS060_HUMAN;.	W	171;149	.	ENSP00000351422:R171W	R	+	1	2	C19orf60	18562721	0.005000	0.15991	0.006000	0.13384	0.006000	0.05464	0.186000	0.16978	0.386000	0.24997	0.655000	0.94253	CGG		0.622	C19orf60-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000465133.1	NM_017967		3	11	0	0	0	0.004672	0	3	11					T	18701721	C	T	18701721	3	4	107	1	0	0	0	0	1	0	0	0	1942	527	19	1	525	1	C19orf60	19	18701721	Missense_Mutation	SNP	C	TCGA-DJ-A2Q3-01A-11D-A18F-08	14255617	18701721	40427262	17	2289											
TRPM4	54795	broad.mit.edu	37	chr19	49671841	49671841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgaggtaccggtggcgcgGtgacccggaggacggggtcc	20	11	0	1			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr19:49671841G>A	ENST00000252826.5	+	6	770	c.644G>A	c.(643-645)gGt>gAt	p.G215D	TRPM4_ENST00000427978.2_Missense_Mutation_p.G215D|TRPM4_ENST00000355712.5_5'UTR	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	215					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CGGTGGCGCGGTGACCCGGAG	0.657																																						ENST00000252826.5																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.(643-645)gGt>gAt		transient receptor potential cation channel, subfamily M, member 4							49	48	49					19																	49671841		2203	4300	6503	SO:0001583	missense	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49671841G>A	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"Voltage-gated ion channels / Transient receptor potential cation channels"	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.644G>A	19.37:g.49671841G>A	ENSP00000252826:p.Gly215Asp					TRPM4_ENST00000355712.5_5'UTR|TRPM4_ENST00000427978.2_Missense_Mutation_p.G215D	p.G215D	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	6	770	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	215					A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	c.644G>A	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	G	2.118	-0.402015	0.04865	.	.	ENSG00000130529	ENST00000252826;ENST00000427978	T;T	0.02787	4.16;4.16	5.06	0.453	0.16639	.	1.274420	0.05279	N	0.519059	T	0.01523	0.0049	N	0.05177	-0.1	0.09310	N	0.999998	B;B;B	0.18610	0.029;0.006;0.017	B;B;B	0.18561	0.022;0.007;0.005	T	0.41413	-0.9510	10	0.05436	T	0.98	-4.741	6.7908	0.23699	0.3:0.1215:0.5785:0.0	.	41;215;215	Q8TD43-2;Q8TD43-3;Q8TD43	.;.;TRPM4_HUMAN	D	215	ENSP00000252826:G215D;ENSP00000407492:G215D	ENSP00000252826:G215D	G	+	2	0	TRPM4	54363653	0.032000	0.19561	0.000000	0.03702	0.000000	0.00434	1.502000	0.35704	0.285000	0.22329	-1.093000	0.02169	GGT		0.657	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		12	37	0	0	0	0.013537	0	12	37					A	49671841	G	A	49671841	3	1	107	1	0	0	0	0	1	0	0	0	16585	1261	44	2	666	2	TRPM4	19	49671841	Missense_Mutation	SNP	G	TCGA-DJ-A2Q3-01A-11D-A18F-08	30970120	49671841	9457142	18	2290											
IFT52	51098	broad.mit.edu	37	chr20	42271199	42271199	+	Frame_Shift_Del	DEL	C	C	-													gtaaactaccaaaggaccaaCaggatgccaaacatatcctt							TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr20:42271199delC	ENST00000373030.3	+	13	1331	c.1201delC	c.(1201-1203)cagfs	p.Q401fs	IFT52_ENST00000471199.1_3'UTR|IFT52_ENST00000373039.4_Frame_Shift_Del_p.Q401fs	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52	401					cilium morphogenesis (GO:0060271)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube formation (GO:0001841)|regulation of protein processing (GO:0070613)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)	protein C-terminus binding (GO:0008022)			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AAAGGACCAACAGGATGCCAA	0.448																																						ENST00000373030.3																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21						c.(1201-1203)agfs		intraflagellar transport 52 homolog (Chlamydomonas)							160	140	147					20																	42271199		2203	4300	6503	SO:0001589	frameshift_variant	51098					intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding	g.chr20:42271199delC	AF151811	CCDS33470.1	20q12-q13.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000101052	ENSG00000101052		"Intraflagellar transport homologs"	15901	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 9", "intraflagellar transport 52 homolog (Chlamydomonas)"	C20orf9		10810093	Standard	NM_016004		Approved	CGI-53, NGD5, dJ1028D15.1, NGD2	uc002xkw.3	Q9Y366	OTTHUMG00000032513	ENST00000373030.3:c.1201delC	20.37:g.42271199delC	ENSP00000362121:p.Gln401fs					IFT52_ENST00000373039.4_Frame_Shift_Del_p.Q401fs|IFT52_ENST00000471199.1_3'UTR	p.Q401fs	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		13	1331	+		Myeloproliferative disorder(115;0.00452)	401					B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Frame_Shift_Del	DEL	ENST00000373030.3	37	c.1201delC	CCDS33470.1																																																																																				0.448	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079317.1	NM_016004		11	34						11	34	---	---	---	---	-	42271199	C	-	42271199	7	5	107	1	0	1	0	1	0	0	0	0	7561	479	17	0	1247	0	IFT52	20	42271199	Frame_Shift_Del	DEL	C	TCGA-DJ-A2Q3-01A-11D-A18F-08		42271199	20754321	19	2291											
DNAJC16	23341	broad.mit.edu	37	chr1	15863305	15863305	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtcattcaagaactggaagaAttgggtaagataattttatt	9	3	2	3			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr1:15863305A>T	ENST00000375847.3	+	4	734	c.570A>T	c.(568-570)gaA>gaT	p.E190D	DNAJC16_ENST00000375838.1_Missense_Mutation_p.E190D|DNAJC16_ENST00000375849.1_Missense_Mutation_p.E190D	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	190	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AACTGGAAGAATTGGGTAAGA	0.398																																						ENST00000375847.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18						c.(568-570)gaA>gaT		DnaJ (Hsp40) homolog, subfamily C, member 16							54	54	54					1																	15863305		2203	4300	6503	SO:0001583	missense	23341				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr1:15863305A>T	AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"Heat shock proteins / DNAJ (HSP40)"	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.570A>T	1.37:g.15863305A>T	ENSP00000365007:p.Glu190Asp					DNAJC16_ENST00000375849.1_Missense_Mutation_p.E190D|DNAJC16_ENST00000375838.1_Missense_Mutation_p.E190D	p.E190D	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	4	734	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	190			Thioredoxin.		Q68D57|Q86X32|Q8N5P4	Missense_Mutation	SNP	ENST00000375847.3	37	c.570A>T	CCDS30606.1	.	.	.	.	.	.	.	.	.	.	A	8.818	0.936965	0.18206	.	.	ENSG00000116138	ENST00000375847;ENST00000375838;ENST00000375849;ENST00000546230	T;T;T	0.38722	1.12;1.12;1.12	5.35	-3.51	0.04696	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.516553	0.21839	N	0.068349	T	0.15998	0.0385	N	0.12746	0.255	0.18873	N	0.999983	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.05178	-1.0901	10	0.32370	T	0.25	-3.0459	1.8329	0.03134	0.3094:0.2686:0.3035:0.1184	.	190;190	Q9Y2G8;Q5TDG9	DJC16_HUMAN;.	D	190	ENSP00000365007:E190D;ENSP00000364998:E190D;ENSP00000365009:E190D	ENSP00000364998:E190D	E	+	3	2	DNAJC16	15735892	0.000000	0.05858	0.109000	0.21407	0.159000	0.22180	-0.610000	0.05629	-0.842000	0.04195	-0.331000	0.08364	GAA		0.398	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006764.1	NM_015291		17	24	0	0	0	0.146539	0	17	24					T	15863305	A	T	15863305	3	4	108	1	0	0	0	0	1	0	0	0	4635	98	4	5	580	5	DNAJC16	1	15863305	Missense_Mutation	SNP	A	TCGA-DJ-A2Q4-01A-21D-A18F-08		15863305	233387316	1	2292											
TTLL7	79739	broad.mit.edu	37	chr1	84376919	84376919	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgcttttctcttttcttaTtttggtactcttctttttca	3	9	5	0			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr1:84376919T>C	ENST00000260505.8	-	15	2092	c.1715A>G	c.(1714-1716)aAt>aGt	p.N572S	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	572					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TCTTTTCTTATTTTGGTACTC	0.338																																						ENST00000260505.8																			0				kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(1714-1716)aAt>aGt		tubulin tyrosine ligase-like family, member 7							217	216	216					1																	84376919		2203	4300	6503	SO:0001583	missense	79739				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	g.chr1:84376919T>C	AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"Tubulin tyrosine ligase-like family"	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.1715A>G	1.37:g.84376919T>C	ENSP00000260505:p.Asn572Ser					TTLL7_ENST00000477524.1_5'UTR	p.N572S	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)	15	2092	-			572					Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Missense_Mutation	SNP	ENST00000260505.8	37	c.1715A>G	CCDS690.2	.	.	.	.	.	.	.	.	.	.	T	2.713	-0.268382	0.05716	.	.	ENSG00000137941	ENST00000260505;ENST00000370704;ENST00000370703	T	0.03468	3.92	5.16	-2.11	0.07187	.	1.112010	0.06623	N	0.757751	T	0.00496	0.0016	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45948	-0.9226	10	0.06757	T	0.87	.	4.1003	0.10010	0.2396:0.2331:0.0:0.5273	.	572	Q6ZT98	TTLL7_HUMAN	S	572;349;572	ENSP00000260505:N572S	ENSP00000260505:N572S	N	-	2	0	TTLL7	84149507	0.002000	0.14202	0.001000	0.08648	0.009000	0.06853	-0.314000	0.08092	-0.271000	0.09272	-0.415000	0.06103	AAT		0.338	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1	NM_024686		9	51	0	0	0	0.058154	0	9	51					C	84376919	T	C	84376919	3	2	108	1	0	0	0	0	1	0	0	0	16729	1493	52	3	976	3	TTLL7	1	84376919	Missense_Mutation	SNP	T	TCGA-DJ-A2Q4-01A-21D-A18F-08	68513614	84376919	164873702	2	2293											
HRNR	388697	broad.mit.edu	37	chr1	152193154	152193154	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggccgtggctggaggagtgCcccgaaccggacccatgtcg	16	13	0	0	rs369387932		TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr1:152193154C>G	ENST00000368801.2	-	3	1026	c.951G>C	c.(949-951)ggG>ggC	p.G317G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	317					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGAGGAGTGCCCCGAACCGG	0.612																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(949-951)ggG>ggC		hornerin							79	89	85					1																	152193154		2203	4300	6503	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152193154C>G	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.951G>C	1.37:g.152193154C>G						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G317G	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1026	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		317					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.951G>C	CCDS30859.1																																																																																				0.612	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		3	110	0	0	0	0.115264	0	3	110					G	152193154	C	G	152193154	2	3	108	1	0	0	0	0	0	0	0	1	7359	726	26	4		4	HRNR	1	152193154	Silent	SNP	C	TCGA-DJ-A2Q4-01A-21D-A18F-08	67816235	152193154	97057467	3	2294											
LAMB2	3913	broad.mit.edu	37	chr3	49169025	49169025	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gactcacagactacatcatcCcagtgccgtgggggtgctag	12	12	2	1			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr3:49169025C>A	ENST00000418109.1	-	6	755	c.591G>T	c.(589-591)tgG>tgT	p.W197C	LAMB2_ENST00000305544.4_Missense_Mutation_p.W197C	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	197	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTACATCATCCCAGTGCCGTG	0.592																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(589-591)tgG>tgT		laminin, beta 2 (laminin S)							130	134	133					3																	49169025		2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49169025C>A		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.591G>T	3.37:g.49169025C>A	ENSP00000388325:p.Trp197Cys					LAMB2_ENST00000305544.4_Missense_Mutation_p.W197C	p.W197C	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	6	755	-			197			Laminin N-terminal.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.591G>T	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745061	0.49151	.	.	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000494831	T;T;T	0.75154	-0.91;-0.91;-0.91	4.85	4.85	0.62838	Laminin, N-terminal (3);	0.307238	0.29987	N	0.010688	T	0.73450	0.3588	L	0.34521	1.04	0.53005	D	0.999964	D	0.54601	0.967	P	0.53954	0.738	T	0.72620	-0.4238	10	0.38643	T	0.18	.	13.875	0.63647	0.1529:0.8471:0.0:0.0	.	197	P55268	LAMB2_HUMAN	C	197;197;48	ENSP00000388325:W197C;ENSP00000307156:W197C;ENSP00000444751:W48C	ENSP00000307156:W197C	W	-	3	0	LAMB2	49144029	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	0.632000	0.24583	2.530000	0.85305	0.655000	0.94253	TGG		0.592	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		5	149	1	0	0.00116845	0.021553	0.00229794	5	149					A	49169025	C	A	49169025	3	1	108	1	0	0	0	0	1	0	0	0	8611	624	22	4	4917	4	LAMB2	3	49169025	Missense_Mutation	SNP	C	TCGA-DJ-A2Q4-01A-21D-A18F-08		49169025	148853405	4	2295											
CDH10	1008	broad.mit.edu	37	chr5	24537754	24537754	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gataagatatatttgagtgaTccatctcctttatcttggtc	7	7	2	3			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr5:24537754T>A	ENST00000264463.4	-	3	768	c.261A>T	c.(259-261)ggA>ggT	p.G87G		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	87	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATTTGAGTGATCCATCTCCTT	0.373										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(259-261)ggA>ggT		cadherin 10, type 2 (T2-cadherin)							66	65	66					5																	24537754		2203	4300	6503	SO:0001819	synonymous_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24537754T>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.261A>T	5.37:g.24537754T>A		HNSCC(23;0.051)					p.G87G	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	3	768	-			87			Cadherin 1.		Q9ULB3	Silent	SNP	ENST00000264463.4	37	c.261A>T	CCDS3892.1																																																																																				0.373	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		6	13	0	0	0	0.021553	0	6	13					A	24537754	T	A	24537754	2	1	108	1	0	0	0	0	0	0	0	1	3096	1422	50	5		5	CDH10	5	24537754	Silent	SNP	T	TCGA-DJ-A2Q4-01A-21D-A18F-08		24537754	156377506	5	2296											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34826174	34826174	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgcctgcctcagcctaatAccctccctccccagagacct	5	21	1	1			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr6:34826174A>G	ENST00000192788.5	+	14	2212	c.2041A>G	c.(2041-2043)Acc>Gcc	p.T681A	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.T681A	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	681							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TCAGCCTAATACCCTCCCTCC	0.488																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(2041-2043)Acc>Gcc		UHRF1 binding protein 1							121	116	118					6																	34826174		1916	4125	6041	SO:0001583	missense	54887							g.chr6:34826174A>G	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.2041A>G	6.37:g.34826174A>G	ENSP00000192788:p.Thr681Ala					UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.T681A	p.T681A	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			14	2212	+			681					Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	c.2041A>G	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	A	2.227	-0.377132	0.05000	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.08008	3.14;3.14	5.15	-4.69	0.03299	.	0.767375	0.12260	N	0.484811	T	0.01029	0.0034	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47837	-0.9086	10	0.18276	T	0.48	0.0031	1.8094	0.03087	0.2728:0.3551:0.2417:0.1304	.	681	Q6BDS2	URFB1_HUMAN	A	681	ENSP00000192788:T681A;ENSP00000400628:T681A	ENSP00000192788:T681A	T	+	1	0	UHRF1BP1	34934152	0.000000	0.05858	0.000000	0.03702	0.315000	0.28087	-0.398000	0.07259	-0.176000	0.10707	0.383000	0.25322	ACC		0.488	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		4	130	0	0	0	0.009096	0	4	130					G	34826174	A	G	34826174	3	3	108	1	0	0	0	0	1	0	0	0	16965	391	14	3	2095	3	UHRF1BP1	6	34826174	Missense_Mutation	SNP	A	TCGA-DJ-A2Q4-01A-21D-A18F-08		34826174	136288893	6	2297											
PLXNA4	91584	broad.mit.edu	37	chr7	131870080	131870080	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gacaatgctccattctggctCaatccgcacgatggtggggt	12	11	2	0			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr7:131870080C>G	ENST00000359827.3	-	16	4098	c.3136G>C	c.(3136-3138)Gag>Cag	p.E1046Q	PLXNA4_ENST00000321063.4_Missense_Mutation_p.E1046Q			Q9HCM2	PLXA4_HUMAN	plexin A4	1046	IPT/TIG 3.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CATTCTGGCTCAATCCGCACG	0.547																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(3136-3138)Gag>Cag		plexin A4							111	115	114					7																	131870080		2048	4195	6243	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131870080C>G	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3136G>C	7.37:g.131870080C>G	ENSP00000352882:p.Glu1046Gln					PLXNA4_ENST00000321063.4_Missense_Mutation_p.E1046Q	p.E1046Q			Q9HCM2	PLXA4_HUMAN			16	4098	-			1046			IPT/TIG 3.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.3136G>C	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347121	0.82022	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.76968	-1.06;-1.06	5.6	5.6	0.85130	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.87366	0.6159	M	0.74881	2.28	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	D	0.83659	0.0160	10	0.21014	T	0.42	.	19.6023	0.95568	0.0:1.0:0.0:0.0	.	1046	Q9HCM2	PLXA4_HUMAN	Q	1046	ENSP00000323194:E1046Q;ENSP00000352882:E1046Q	ENSP00000323194:E1046Q	E	-	1	0	PLXNA4	131520620	1.000000	0.71417	0.978000	0.43139	0.415000	0.31203	7.792000	0.85828	2.653000	0.90120	0.561000	0.74099	GAG		0.547	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		3	60	0	0	0	0.115264	0	3	60					G	131870080	C	G	131870080	3	3	108	1	0	0	0	0	1	0	0	0	12122	835	29	4	2616	4	PLXNA4	7	131870080	Missense_Mutation	SNP	C	TCGA-DJ-A2Q4-01A-21D-A18F-08		131870080	27268583	7	2298											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		19	27	0	0	0	0.049695	0	19	27					T	140453136	A	T	140453136	3	4	108	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2Q4-01A-21D-A18F-08	8583056	140453136	18685527	8	2299											
KCNS2	3788	broad.mit.edu	37	chr8	99441073	99441073	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcacacctactttagccaActtgggcagggtggcccagg	13	12	0	0			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr8:99441073A>G	ENST00000287042.4	+	2	1216	c.866A>G	c.(865-867)aAc>aGc	p.N289S	KCNS2_ENST00000521839.1_Missense_Mutation_p.N289S	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	289					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			ACTTTAGCCAACTTGGGCAGG	0.562																																					Pancreas(138;844 2489 9202 24627)	ENST00000287042.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31						c.(865-867)aAc>aGc		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2							139	131	134					8																	99441073		2203	4300	6503	SO:0001583	missense	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99441073A>G	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.866A>G	8.37:g.99441073A>G	ENSP00000287042:p.Asn289Ser					KCNS2_ENST00000521839.1_Missense_Mutation_p.N289S	p.N289S	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	1216	+	Breast(36;2.4e-06)		289					A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	c.866A>G	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	A	19.74	3.882999	0.72410	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	D;D	0.97455	-4.39;-4.39	5.83	5.83	0.93111	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97614	0.9218	L	0.47716	1.5	0.50039	D	0.999841	D	0.69078	0.997	D	0.79108	0.992	D	0.98335	1.0535	10	0.56958	D	0.05	.	16.2009	0.82078	1.0:0.0:0.0:0.0	.	289	Q9ULS6	KCNS2_HUMAN	S	289	ENSP00000287042:N289S;ENSP00000430712:N289S	ENSP00000287042:N289S	N	+	2	0	KCNS2	99510249	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.235000	0.73313	0.533000	0.62120	AAC		0.562	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		5	69	0	0	0	0.014758	0	5	69					G	99441073	A	G	99441073	3	3	108	1	0	0	0	0	1	0	0	0	8089	43	2	3	868	3	KCNS2	8	99441073	Missense_Mutation	SNP	A	TCGA-DJ-A2Q4-01A-21D-A18F-08		99441073	46922949	9	2300											
SEC16A	9919	broad.mit.edu	37	chr9	139371685	139371685	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caggaggtgctgaaggtgtcAatgcaccagaaaacggactg	14	8	1	2			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr9:139371685A>C	ENST00000313050.7	-	1	456	c.383T>G	c.(382-384)tTg>tGg	p.L128W	SEC16A_ENST00000431893.2_5'Flank|SEC16A_ENST00000371706.3_5'Flank|SEC16A_ENST00000290037.6_5'Flank	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	0					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TGAAGGTGTCAATGCACCAGA	0.567																																						ENST00000313050.7																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(382-384)tTg>tGg		SEC16 homolog A (S. cerevisiae)							84	88	87					9																	139371685		2036	4181	6217	SO:0001583	missense	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139371685A>C	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"KIAA0310"	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000313050.7:c.383T>G	9.37:g.139371685A>C	ENSP00000325827:p.Leu128Trp						p.L128W	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	1	456	-		Myeloproliferative disorder(178;0.0511)	2098					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000313050.7	37	c.383T>G	CCDS55351.1	.	.	.	.	.	.	.	.	.	.	A	12.23	1.876786	0.33162	.	.	ENSG00000148396	ENST00000313050	T	0.24723	1.84	5.02	-1.11	0.09840	.	.	.	.	.	T	0.22044	0.0531	N	0.24115	0.695	0.09310	N	1	D	0.57257	0.979	P	0.49252	0.604	T	0.29852	-0.9998	8	.	.	.	.	12.8862	0.58045	0.2525:0.0:0.7475:0.0	.	128	F1T0I1	.	W	128	ENSP00000325827:L128W	.	L	-	2	0	SEC16A	138491506	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.165000	0.16564	-0.133000	0.11537	-0.274000	0.10170	TTG		0.567	SEC16A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_088459		37	55	0	0	0	0.080422	0	37	55					C	139371685	A	C	139371685	3	2	108	1	0	0	0	0	1	0	0	0	13986	131	5	5	6810	5	SEC16A	9	139371685	Missense_Mutation	SNP	A	TCGA-DJ-A2Q4-01A-21D-A18F-08		139371685	1841746	10	2301											
OR52N4	390072	broad.mit.edu	37	chr11	5776224	5776224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacaatccctaaagccctctGcatcttctggtttcatctca	4	14	5	0			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr11:5776224G>A	ENST00000317254.3	+	1	302	c.254G>A	c.(253-255)tGc>tAc	p.C85Y	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		AAAGCCCTCTGCATCTTCTGG	0.468																																						ENST00000317254.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(253-255)tGc>tAc		olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)							141	146	144					11																	5776224		2199	4296	6495	SO:0001583	missense	390072				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5776224G>A	AB065813	CCDS44528.1	11p15.4	2013-10-10	2013-10-10		ENSG00000181074	ENSG00000181074		"GPCR / Class A : Olfactory receptors"	15230	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily N, member 4"				Standard	NM_001005175		Approved		uc001mbu.3	Q8NGI2	OTTHUMG00000066887	ENST00000317254.3:c.254G>A	11.37:g.5776224G>A	ENSP00000323224:p.Cys85Tyr					TRIM5_ENST00000380027.1_Intron	p.C85Y	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)	1	302	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	85					B2RNP8|Q6IF77	Missense_Mutation	SNP	ENST00000317254.3	37	c.254G>A	CCDS44528.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732342	0.30684	.	.	ENSG00000181074	ENST00000317254	T	0.03004	4.08	5.93	1.65	0.23941	GPCR, rhodopsin-like superfamily (1);	1.292380	0.05255	N	0.514769	T	0.05410	0.0143	L	0.37697	1.125	0.09310	N	1	B	0.28971	0.229	B	0.38296	0.27	T	0.47289	-0.9129	10	0.62326	D	0.03	.	3.6464	0.08187	0.0753:0.1954:0.3621:0.3673	.	85	Q8NGI2	O52N4_HUMAN	Y	85	ENSP00000323224:C85Y	ENSP00000323224:C85Y	C	+	2	0	OR52N4	5732800	0.000000	0.05858	0.974000	0.42286	0.986000	0.74619	-1.974000	0.01499	0.383000	0.24910	0.551000	0.68910	TGC		0.468	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143350.1	NM_001005175		31	37	0	0	0	0.125774	0	31	37					A	5776224	G	A	5776224	3	1	108	1	0	0	0	0	1	0	0	0	11129	1319	46	2	256	2	OR52N4	11	5776224	Missense_Mutation	SNP	G	TCGA-DJ-A2Q4-01A-21D-A18F-08		5776224	129230292	11	2302											
DENND5A	23258	broad.mit.edu	37	chr11	9161345	9161345	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgccacatcctcatacatgTgtgcagtgatggggcagtca	12	10	2	1			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr11:9161345T>C	ENST00000328194.3	-	23	4057	c.3737A>G	c.(3736-3738)cAc>cGc	p.H1246R	DENND5A_ENST00000527700.1_Missense_Mutation_p.H589R|DENND5A_ENST00000530044.1_Missense_Mutation_p.T1235A|SCUBE2_ENST00000534295.1_5'Flank	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	1246	RUN 2. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTCATACATGTGTGCAGTGAT	0.542																																						ENST00000328194.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(3736-3738)cAc>cGc		DENN/MADD domain containing 5A							141	102	115					11																	9161345		2201	4296	6497	SO:0001583	missense	23258							g.chr11:9161345T>C	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"DENN/MADD domain containing"	19344	protein-coding gene	gene with protein product			"RAB6 interacting protein 1"	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.3737A>G	11.37:g.9161345T>C	ENSP00000328524:p.His1246Arg					DENND5A_ENST00000527700.1_Missense_Mutation_p.H589R|DENND5A_ENST00000530044.1_Missense_Mutation_p.T1235A	p.H1246R	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN			23	4057	-			1246			RUN 2.		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	c.3737A>G	CCDS31423.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	5.161|5.161	0.215222|0.215222	0.09810|0.09810	.|.	.|.	ENSG00000184014|ENSG00000184014	ENST00000328194;ENST00000527700|ENST00000530044;ENST00000528725;ENST00000533737;ENST00000525784	T;T|T	0.09723|0.03745	2.95;2.95|3.82	5.71|5.71	4.55|4.55	0.56014|0.56014	RUN (3);|.	0.095199|.	0.85682|.	D|.	0.000000|.	T|T	0.01029|0.01029	0.0034|0.0034	N|N	0.00162|0.00162	-1.95|-1.95	0.36176|0.36176	D|D	0.849086|0.849086	B|B	0.02656|0.02656	0.0|0.0	B|B	0.01281|0.04013	0.0|0.001	T|T	0.45600|0.45600	-0.9250|-0.9250	10|8	0.09084|.	T|.	0.74|.	.|.	12.2264|12.2264	0.54463|0.54463	0.1271:0.0:0.0:0.8729|0.1271:0.0:0.0:0.8729	.|.	1246|1235	Q6IQ26|E9PS91	DEN5A_HUMAN|.	R|A	1246;589|1235;145;154;225	ENSP00000328524:H1246R;ENSP00000432549:H589R|ENSP00000435866:T1235A	ENSP00000328524:H1246R|.	H|T	-|-	2|1	0|0	DENND5A|DENND5A	9117921|9117921	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.120000|5.120000	0.64685|0.64685	2.165000|2.165000	0.68154|0.68154	0.533000|0.533000	0.62120|0.62120	CAC|ACA		0.542	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		14	25	0	0	0	0.105934	0	14	25					C	9161345	T	C	9161345	3	2	108	1	0	0	0	0	1	0	0	0	4436	1696	59	3	130	3	DENND5A	11	9161345	Missense_Mutation	SNP	T	TCGA-DJ-A2Q4-01A-21D-A18F-08	3385121	9161345	125845171	12	2303											
CD248	57124	broad.mit.edu	37	chr11	66082772	66082772	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaagctgggtggcctgggttCtgaggacaagggcatctggg	19	7	2	1			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr11:66082772C>A	ENST00000311330.3	-	1	1743	c.1727G>T	c.(1726-1728)aGa>aTa	p.R576I	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	576	Pro-rich.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						GGCCTGGGTTCTGAGGACAAG	0.607																																						ENST00000311330.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						c.(1726-1728)aGa>aTa		CD248 molecule, endosialin	Cefalotin(DB00456)						119	131	127					11																	66082772		2200	4295	6495	SO:0001583	missense	57124					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	g.chr11:66082772C>A	AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"CD molecules"	18219	protein-coding gene	gene with protein product	"endosialin", "tumor endothelial marker 1"	606064	"CD164 sialomucin-like 1", "CD248 antigen, endosialin"	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.1727G>T	11.37:g.66082772C>A	ENSP00000308117:p.Arg576Ile					RP11-867G23.13_ENST00000534065.1_RNA	p.R576I	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN			1	1743	-			576			Pro-rich.		Q2M2V5|Q3SX55|Q96KB6	Missense_Mutation	SNP	ENST00000311330.3	37	c.1727G>T	CCDS8134.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465408	0.43839	.	.	ENSG00000174807	ENST00000311330	D	0.89415	-2.51	4.41	1.14	0.20703	.	6.584470	0.00718	U	0.000870	T	0.80660	0.4665	N	0.22421	0.69	0.09310	N	1	P	0.36438	0.553	B	0.32465	0.146	T	0.71576	-0.4551	10	0.59425	D	0.04	-0.0494	3.3964	0.07307	0.0:0.3604:0.2091:0.4305	.	576	Q9HCU0	CD248_HUMAN	I	576	ENSP00000308117:R576I	ENSP00000308117:R576I	R	-	2	0	CD248	65839348	.	.	0.088000	0.20740	0.283000	0.27025	.	.	0.364000	0.24374	0.460000	0.39030	AGA		0.607	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2	NM_020404		37	48	1	0	9.8876e-21	0.074837	2.01162e-20	37	48					A	66082772	C	A	66082772	3	1	108	1	0	0	0	0	1	0	0	0	2989	913	32	4	550	4	CD248	11	66082772	Missense_Mutation	SNP	C	TCGA-DJ-A2Q4-01A-21D-A18F-08	56921427	66082772	68923744	13	2304											
CD163	9332	broad.mit.edu	37	chr12	7651554	7651554	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagagagctgactcatttcCgttgcatataagatcatcaa	7	10	3	3			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr12:7651554C>T	ENST00000359156.4	-	4	890	c.688G>A	c.(688-690)Gga>Aga	p.G230R	CD163_ENST00000396620.3_Missense_Mutation_p.G230R|CD163_ENST00000432237.2_Missense_Mutation_p.G230R|CD163_ENST00000541972.1_Missense_Mutation_p.G218R	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	230	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	GACTCATTTCCGTTGCATATA	0.433																																						ENST00000359156.4																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(688-690)Gga>Aga		CD163 molecule							194	182	186					12																	7651554		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7651554C>T	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.688G>A	12.37:g.7651554C>T	ENSP00000352071:p.Gly230Arg					CD163_ENST00000432237.2_Missense_Mutation_p.G230R|CD163_ENST00000541972.1_Missense_Mutation_p.G218R|CD163_ENST00000396620.3_Missense_Mutation_p.G230R	p.G230R	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			4	890	-			230			SRCR 2.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.688G>A	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942641	0.73672	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.16	5.16	0.70880	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.082610	0.49916	D	0.000121	T	0.74313	0.3700	H	0.94385	3.53	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.82220	-0.0565	10	0.87932	D	0	.	16.5049	0.84268	0.0:1.0:0.0:0.0	.	230;230;230	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	R	230;218;230;230	ENSP00000352071:G230R;ENSP00000444071:G218R;ENSP00000379863:G230R;ENSP00000403885:G230R	ENSP00000352071:G230R	G	-	1	0	CD163	7542821	1.000000	0.71417	0.948000	0.38648	0.426000	0.31534	7.715000	0.84713	2.573000	0.86826	0.650000	0.86243	GGA		0.433	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		10	183	0	0	0	0.080935	0	10	183					T	7651554	C	T	7651554	3	4	108	1	0	0	0	0	1	0	0	0	2967	661	23	1	2834	1	CD163	12	7651554	Missense_Mutation	SNP	C	TCGA-DJ-A2Q4-01A-21D-A18F-08		7651554	126200341	14	2305											
DNAH3	55567	broad.mit.edu	37	chr16	21170720	21170720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaggctgggcccggatgggGaggggcggccagtgtgagct	21	8	0	1			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr16:21170720G>A	ENST00000261383.3	-	1	42	c.43C>T	c.(43-45)Ccc>Tcc	p.P15S	TMEM159_ENST00000572258.1_Intron|TMEM159_ENST00000572599.1_Intron|TMEM159_ENST00000233047.4_Intron|DNAH3_ENST00000415178.1_Missense_Mutation_p.P15S|TMEM159_ENST00000451578.2_Intron|TMEM159_ENST00000574092.1_Intron|TMEM159_ENST00000261388.3_Intron	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	15	Stem. {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)		CCCGGATGGGGAGGGGCGGCC	0.622																																						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.(43-45)Ccc>Tcc		dynein, axonemal, heavy chain 3							81	91	88					16																	21170720		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21170720G>A	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.43C>T	16.37:g.21170720G>A	ENSP00000261383:p.Pro15Ser					TMEM159_ENST00000572599.1_Intron|TMEM159_ENST00000451578.2_Intron|TMEM159_ENST00000572258.1_Intron|DNAH3_ENST00000415178.1_Missense_Mutation_p.P15S|TMEM159_ENST00000574092.1_Intron|TMEM159_ENST00000261388.3_Intron|TMEM159_ENST00000233047.4_Intron	p.P15S	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	1	42	-			15			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.43C>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.705379	0.30232	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.21191	2.02;2.16	2.2	-3.25	0.05079	.	.	.	.	.	T	0.11239	0.0274	N	0.22421	0.69	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.29640	-1.0005	9	0.87932	D	0	.	3.5959	0.08006	0.5521:0.2084:0.2395:0.0	.	15	Q8TD57	DYH3_HUMAN	S	15	ENSP00000261383:P15S;ENSP00000394245:P15S	ENSP00000261383:P15S	P	-	1	0	DNAH3	21078221	0.001000	0.12720	0.022000	0.16811	0.178000	0.23041	0.296000	0.19083	-0.829000	0.04268	-0.264000	0.10439	CCC		0.622	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		48	68	0	0	0	0.139131	0	48	68					A	21170720	G	A	21170720	3	1	108	1	0	0	0	0	1	0	0	0	4603	1174	41	2	12554	2	DNAH3	16	21170720	Missense_Mutation	SNP	G	TCGA-DJ-A2Q4-01A-21D-A18F-08		21170720	69184033	15	2306											
NUP93	9688	broad.mit.edu	37	chr16	56782202	56782202	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctccttcagcaagctgaaCagcttgctgctgagactgag	11	11	1	3			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr16:56782202C>T	ENST00000308159.5	+	2	164	c.43C>T	c.(43-45)Cag>Tag	p.Q15*	NUP93_ENST00000569842.1_Nonsense_Mutation_p.Q15*	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	15					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.Q15*(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GCAAGCTGAACAGCTTGCTGC	0.517																																					Colon(33;610 796 1305 1705 38917)	ENST00000569842.1																			1	Substitution - Nonsense(1)	p.Q15*(1)	endometrium(1)	breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(43-45)Cag>Tag		nucleoporin 93kDa							67	65	66					16																	56782202		2198	4300	6498	SO:0001587	stop_gained	9688				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr16:56782202C>T	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.43C>T	16.37:g.56782202C>T	ENSP00000310668:p.Gln15*					NUP93_ENST00000308159.5_Nonsense_Mutation_p.Q15*	p.Q15*			Q8N1F7	NUP93_HUMAN			2	139	+			15					B3KPQ8|Q14705	Nonsense_Mutation	SNP	ENST00000308159.5	37	c.43C>T	CCDS10769.1	.	.	.	.	.	.	.	.	.	.	C	40	8.003070	0.98605	.	.	ENSG00000102900	ENST00000308159	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.0968	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	15	.	ENSP00000310668:Q15X	Q	+	1	0	NUP93	55339703	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.681000	0.84073	2.937000	0.99478	0.650000	0.86243	CAG		0.517	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669		17	38	0	0	0	0.038395	0	17	38					T	56782202	C	T	56782202	4	4	108	1	0	0	0	0	0	1	0	0	10772	479	17	2	45	2	NUP93	16	56782202	Nonsense_Mutation	SNP	C	TCGA-DJ-A2Q4-01A-21D-A18F-08	35611482	56782202	33572551	16	2307											
CWC25	54883	broad.mit.edu	37	chr17	36959028	36959028	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catccttagcatgcctcttgAggatgttcagtctctcctcc	7	14	3	1			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr17:36959028A>G	ENST00000225428.5	-	9	1385	c.1088T>C	c.(1087-1089)cTc>cCc	p.L363P	CWC25_ENST00000536127.1_Missense_Mutation_p.L300P|PIP4K2B_ENST00000269554.3_5'Flank	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	363										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						ATGCCTCTTGAGGATGTTCAG	0.517																																						ENST00000225428.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						c.(1087-1089)cTc>cCc		CWC25 spliceosome-associated protein homolog (S. cerevisiae)							202	206	205					17																	36959028		2011	4179	6190	SO:0001583	missense	54883							g.chr17:36959028A>G	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.1088T>C	17.37:g.36959028A>G	ENSP00000225428:p.Leu363Pro					CWC25_ENST00000536127.1_Missense_Mutation_p.L300P	p.L363P	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN			9	1385	-			363					A0JLM3|Q68DK5	Missense_Mutation	SNP	ENST00000225428.5	37	c.1088T>C	CCDS45663.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.919323	0.73098	.	.	ENSG00000108296	ENST00000225428;ENST00000536127	.	.	.	5.71	5.71	0.89125	.	0.060269	0.64402	D	0.000003	T	0.74007	0.3660	L	0.59436	1.845	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.65233	0.933;0.889	T	0.74551	-0.3628	9	0.46703	T	0.11	.	14.8062	0.69959	1.0:0.0:0.0:0.0	.	300;363	B4DJK2;Q9NXE8	.;CWC25_HUMAN	P	363;300	.	ENSP00000225428:L363P	L	-	2	0	CWC25	34212554	1.000000	0.71417	0.875000	0.34327	0.377000	0.30045	8.619000	0.90938	2.186000	0.69663	0.533000	0.62120	CTC		0.517	CWC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442186.6	NM_017748		3	114	0	0	0	0.115264	0	3	114					G	36959028	A	G	36959028	3	3	108	1	0	0	0	0	1	0	0	0	4069	304	11	3	197	3	CWC25	17	36959028	Missense_Mutation	SNP	A	TCGA-DJ-A2Q4-01A-21D-A18F-08		36959028	44236182	17	2308											
GOLGB1	2804	broad.mit.edu	37	chr3	121413536	121413536	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catctgtaacatcctgacagTaattcccaatgcttccatta	4	12	1	1			TCGA-DJ-A2Q5-01A-11D-A18F-08	TCGA-DJ-A2Q5-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3352274-8864-4367-869d-dc6d790e5fda	f0edc1f8-7961-4410-b8f5-1bba9fbf379b	g.chr3:121413536T>C	ENST00000340645.5	-	13	5944	c.5819A>G	c.(5818-5820)tAc>tGc	p.Y1940C	GOLGB1_ENST00000393667.3_Missense_Mutation_p.Y1945C	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1940					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ATCCTGACAGTAATTCCCAAT	0.363																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(5833-5835)tAc>tGc		golgin B1							215	211	213					3																	121413536		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121413536T>C	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.5819A>G	3.37:g.121413536T>C	ENSP00000341848:p.Tyr1940Cys					GOLGB1_ENST00000340645.5_Missense_Mutation_p.Y1940C	p.Y1945C	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	5944	-			1940					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.5834A>G	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	T	12.76	2.036026	0.35893	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.23147	1.93;1.92	5.73	5.73	0.89815	.	0.000000	0.46145	D	0.000305	T	0.50034	0.1592	M	0.71581	2.175	0.54753	D	0.999987	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.49716	-0.8910	10	0.51188	T	0.08	.	13.9584	0.64164	0.0:0.0:0.0:1.0	.	1865;1945;1945;1940	F1T0J2;E7EP74;B2ZZ91;Q14789	.;.;.;GOGB1_HUMAN	C	1940;1945	ENSP00000341848:Y1940C;ENSP00000377275:Y1945C	ENSP00000341848:Y1940C	Y	-	2	0	GOLGB1	122896226	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.932000	0.87634	2.171000	0.68590	0.528000	0.53228	TAC		0.363	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		3	161	0	0	0	0.004672	0	3	161					C	121413536	T	C	121413536	3	2	109	1	0	0	0	0	1	0	0	0	6565	1638	57	3	4000	3	GOLGB1	3	121413536	Missense_Mutation	SNP	T	TCGA-DJ-A2Q5-01A-11D-A18F-08		121413536	76608894	1	2309											
DLG1	1739	broad.mit.edu	37	chr3	196857455	196857455	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacatacttgtgggttttgCcactttcaaataaacaaaat	5	7	1	0			TCGA-DJ-A2Q5-01A-11D-A18F-08	TCGA-DJ-A2Q5-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3352274-8864-4367-869d-dc6d790e5fda	f0edc1f8-7961-4410-b8f5-1bba9fbf379b	g.chr3:196857455C>T	ENST00000419354.1	-	12	1493	c.1207G>A	c.(1207-1209)Gca>Aca	p.A403T	DLG1_ENST00000450955.1_Missense_Mutation_p.A370T|DLG1_ENST00000422288.1_Missense_Mutation_p.A352T|DLG1_ENST00000357674.4_Missense_Mutation_p.A370T|DLG1_ENST00000392382.2_Missense_Mutation_p.A370T|DLG1_ENST00000443183.1_Missense_Mutation_p.A287T|DLG1_ENST00000346964.2_Missense_Mutation_p.A403T|DLG1_ENST00000452595.1_Missense_Mutation_p.A287T|DLG1_ENST00000448528.2_Missense_Mutation_p.A403T|DLG1_ENST00000314062.3_Missense_Mutation_p.A352T			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	403	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)		GTGGGTTTTGCCACTTTCAAA	0.343																																						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.(1207-1209)Gca>Aca		discs, large homolog 1 (Drosophila)							178	156	164					3																	196857455		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.chr3:196857455C>T	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.1207G>A	3.37:g.196857455C>T	ENSP00000407531:p.Ala403Thr					DLG1_ENST00000452595.1_Missense_Mutation_p.A287T|DLG1_ENST00000450955.1_Missense_Mutation_p.A370T|DLG1_ENST00000448528.2_Missense_Mutation_p.A403T|DLG1_ENST00000443183.1_Missense_Mutation_p.A287T|DLG1_ENST00000422288.1_Missense_Mutation_p.A352T|DLG1_ENST00000419354.1_Missense_Mutation_p.A403T|DLG1_ENST00000392382.2_Missense_Mutation_p.A370T|DLG1_ENST00000357674.4_Missense_Mutation_p.A370T|DLG1_ENST00000314062.3_Missense_Mutation_p.A352T	p.A403T	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)	12	1396	-	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	403			PDZ 2.		A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	ENST00000419354.1	37	c.1207G>A	CCDS43194.1	.	.	.	.	.	.	.	.	.	.	C	34	5.302203	0.95601	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000452595;ENST00000422288;ENST00000448528;ENST00000443183;ENST00000392382;ENST00000450955;ENST00000447466	T;T;T;T;T;T;T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24	5.65	5.65	0.86999	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	T	0.45337	0.1337	M	0.78049	2.395	0.80722	D	1	P;D;D;D;D;D;D	0.89917	0.76;0.978;1.0;1.0;1.0;0.962;1.0	P;P;D;D;D;P;D	0.87578	0.644;0.854;0.998;0.998;0.998;0.841;0.998	T	0.20605	-1.0270	10	0.38643	T	0.18	.	18.7045	0.91632	0.0:1.0:0.0:0.0	.	370;287;287;287;370;403;403	Q12959-4;E9PG21;E7EWL7;B4DGU1;Q12959-3;Q12959;Q12959-2	.;.;.;.;.;DLG1_HUMAN;.	T	403;403;370;403;352;403;287;352;403;287;370;370;212	ENSP00000345731:A403T;ENSP00000350303:A370T;ENSP00000321087:A352T;ENSP00000407531:A403T;ENSP00000398939:A287T;ENSP00000413238:A352T;ENSP00000391732:A403T;ENSP00000396658:A287T;ENSP00000376187:A370T;ENSP00000411278:A370T;ENSP00000398702:A212T	ENSP00000321087:A352T	A	-	1	0	DLG1	198341852	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.445000	0.80570	2.667000	0.90743	0.455000	0.32223	GCA		0.343	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2	NM_004087		4	55	0	0	0	0.001168	0	4	55					T	196857455	C	T	196857455	3	4	109	1	0	0	0	0	1	0	0	0	4554	739	26	2	1671	2	DLG1	3	196857455	Missense_Mutation	SNP	C	TCGA-DJ-A2Q5-01A-11D-A18F-08	75443919	196857455	1164975	2	2310											
CLCN3	1182	broad.mit.edu	37	chr4	170618538	170618538	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggagggctttggggagccTttttcattagggcaaatatt	13	5	1	0			TCGA-DJ-A2Q5-01A-11D-A18F-08	TCGA-DJ-A2Q5-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3352274-8864-4367-869d-dc6d790e5fda	f0edc1f8-7961-4410-b8f5-1bba9fbf379b	g.chr4:170618538T>C	ENST00000513761.1	+	9	1775	c.1216T>C	c.(1216-1218)Ttt>Ctt	p.F406L	CLCN3_ENST00000360642.3_Missense_Mutation_p.F379L|CLCN3_ENST00000504131.2_Missense_Mutation_p.F389L|CLCN3_ENST00000347613.4_Missense_Mutation_p.F406L	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	406					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		TTGGGGAGCCTTTTTCATTAG	0.438																																						ENST00000513761.1																			0				breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29						c.(1216-1218)Ttt>Ctt		chloride channel, voltage-sensitive 3							145	144	144					4																	170618538		2203	4300	6503	SO:0001583	missense	0				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity	g.chr4:170618538T>C	X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"Ion channels / Chloride channels : Voltage-sensitive"	2021	protein-coding gene	gene with protein product		600580	"chloride channel 3"				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.1216T>C	4.37:g.170618538T>C	ENSP00000424603:p.Phe406Leu					CLCN3_ENST00000504131.2_Missense_Mutation_p.F389L|CLCN3_ENST00000360642.3_Missense_Mutation_p.F379L|CLCN3_ENST00000347613.4_Missense_Mutation_p.F406L	p.F406L	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)	9	1775	+		Prostate(90;0.00601)|Renal(120;0.0183)	406					B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	ENST00000513761.1	37	c.1216T>C	CCDS34101.1	.	.	.	.	.	.	.	.	.	.	T	8.503	0.864743	0.17250	.	.	ENSG00000109572	ENST00000513761;ENST00000347613;ENST00000360642;ENST00000504131;ENST00000507875	D;D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08;-3.08	5.84	5.84	0.93424	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	T	0.79592	0.4472	N	0.02315	-0.6	0.80722	D	1	B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.0	B;B;B;B;B	0.15484	0.009;0.009;0.009;0.013;0.005	T	0.76302	-0.3009	10	0.06494	T	0.89	-11.1807	16.2123	0.82170	0.0:0.0:0.0:1.0	.	379;389;379;406;406	B7Z932;B9EGJ9;E9PE15;P51790;P51790-2	.;.;.;CLCN3_HUMAN;.	L	406;406;379;389;379	ENSP00000424603:F406L;ENSP00000261514:F406L;ENSP00000353857:F379L;ENSP00000424540:F389L;ENSP00000425323:F379L	ENSP00000261514:F406L	F	+	1	0	CLCN3	170855113	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.182000	0.58310	2.231000	0.72958	0.455000	0.32223	TTT		0.438	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			3	157	0	0	0	0.004672	0	3	157					C	170618538	T	C	170618538	3	2	109	1	0	0	0	0	1	0	0	0	3464	1609	56	3	1246	3	CLCN3	4	170618538	Missense_Mutation	SNP	T	TCGA-DJ-A2Q5-01A-11D-A18F-08		170618538	20535738	3	2311											
TRPC7	57113	broad.mit.edu	37	chr5	135583307	135583307	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagcgagatctgcaggggccCaaaactctcgttggctggca	13	11	2	1			TCGA-DJ-A2Q5-01A-11D-A18F-08	TCGA-DJ-A2Q5-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3352274-8864-4367-869d-dc6d790e5fda	f0edc1f8-7961-4410-b8f5-1bba9fbf379b	g.chr5:135583307C>A	ENST00000513104.1	-	7	1978	c.1696G>T	c.(1696-1698)Ggg>Tgg	p.G566W	TRPC7_ENST00000426057.2_Missense_Mutation_p.G450W|TRPC7_ENST00000355180.3_Missense_Mutation_p.G505W	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	566					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGCAGGGGCCCAAAACTCTCG	0.488																																						ENST00000513104.1																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(1696-1698)Ggg>Tgg		transient receptor potential cation channel, subfamily C, member 7							135	137	136					5																	135583307		1956	4168	6124	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135583307C>A	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"Voltage-gated ion channels / Transient receptor potential cation channels"	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.1696G>T	5.37:g.135583307C>A	ENSP00000426070:p.Gly566Trp					TRPC7_ENST00000426057.2_Missense_Mutation_p.G450W|TRPC7_ENST00000355180.3_Missense_Mutation_p.G505W	p.G566W	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		7	1978	-			566					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.1696G>T	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.0|27.0	4.790446|4.790446	0.90367|0.90367	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193|ENST00000352189;ENST00000378459;ENST00000502753	D;D;D|.	0.98684|.	-5.07;-5.07;-5.07|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Ion transport (1);|.	0.050946|.	0.85682|.	D|.	0.000000|.	D|D	0.88089|0.88089	0.6343|0.6343	H|H	0.95260|0.95260	3.645|3.645	0.80722|0.80722	D|D	1|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|D	0.90560|0.90560	0.4515|0.4515	10|5	0.87932|.	D|.	0|.	-21.9262|-21.9262	19.9142|19.9142	0.97043|0.97043	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	450;505;511;566|.	Q8IWP7;F5H5U9;Q70T25;Q9HCX4|.	.;.;.;TRPC7_HUMAN|.	W|L	505;450;566;566|449;504;510	ENSP00000347312:G505W;ENSP00000441628:G450W;ENSP00000426070:G566W|.	ENSP00000265193:G566W|.	G|W	-|-	1|2	0|0	TRPC7|TRPC7	135611206|135611206	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.996000|0.996000	0.88848|0.88848	7.651000|7.651000	0.83577|0.83577	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GGG|TGG		0.488	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		5	108	1	0	0.00116845	0.001168	0.0017293	5	108					A	135583307	C	A	135583307	3	1	109	1	0	0	0	0	1	0	0	0	16581	594	21	4	916	4	TRPC7	5	135583307	Missense_Mutation	SNP	C	TCGA-DJ-A2Q5-01A-11D-A18F-08		135583307	45331953	4	2312											
RP9	6100	broad.mit.edu	37	chr7	33136131	33136131	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttttcatgtcgtttattGtctcgtatgatgtcatacat	6	8	3	1			TCGA-DJ-A2Q5-01A-11D-A18F-08	TCGA-DJ-A2Q5-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3352274-8864-4367-869d-dc6d790e5fda	f0edc1f8-7961-4410-b8f5-1bba9fbf379b	g.chr7:33136131G>A	ENST00000297157.3	-	5	458	c.441C>T	c.(439-441)gaC>gaT	p.D147D		NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9 (autosomal dominant)	147	PIM1-binding. {ECO:0000250}.				cognition (GO:0050890)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|signal recognition particle receptor complex (GO:0005785)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|urinary_tract(1)	7			GBM - Glioblastoma multiforme(11;0.0403)			GTCGTTTATTGTCTCGTATGA	0.368																																						ENST00000297157.3																			0				large_intestine(3)|lung(3)|urinary_tract(1)	7						c.(439-441)gaC>gaT		retinitis pigmentosa 9 (autosomal dominant)							255	217	230					7																	33136131		2203	4300	6503	SO:0001819	synonymous_variant	6100				RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr7:33136131G>A	AX016710	CCDS5440.1	7p14.3	2014-01-28			ENSG00000164610	ENSG00000164610			10288	protein-coding gene	gene with protein product	"Pim-1 kinase associated protein"	607331				8513323	Standard	NM_203288		Approved	PAP-1	uc003tdm.3	Q8TA86	OTTHUMG00000152988	ENST00000297157.3:c.441C>T	7.37:g.33136131G>A							p.D147D	NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0403)		5	458	-			147			PIM1-binding (By similarity).			Silent	SNP	ENST00000297157.3	37	c.441C>T	CCDS5440.1																																																																																				0.368	RP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328914.1	NM_203288		4	61	0	0	0	0.000248	0	4	61					A	33136131	G	A	33136131	2	1	109	1	0	0	0	0	0	0	0	1	13535	1368	48	2		2	RP9	7	33136131	Silent	SNP	G	TCGA-DJ-A2Q5-01A-11D-A18F-08		33136131	126002532	5	2313											
INHBA	3624	broad.mit.edu	37	chr7	41739593	41739593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagcaccaacctgactcgGcaaacgtgatgatctccgag	10	14	1	3			TCGA-DJ-A2Q5-01A-11D-A18F-08	TCGA-DJ-A2Q5-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3352274-8864-4367-869d-dc6d790e5fda	f0edc1f8-7961-4410-b8f5-1bba9fbf379b	g.chr7:41739593G>A	ENST00000242208.4	-	2	626	c.380C>T	c.(379-381)gCc>gTc	p.A127V	INHBA-AS1_ENST00000415848.2_RNA|INHBA-AS1_ENST00000420821.1_RNA|INHBA-AS1_ENST00000422822.1_RNA|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.A127V	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	127					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ACCTGACTCGGCAAACGTGAT	0.522										TSP Lung(11;0.080)																												ENST00000242208.4																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(379-381)gCc>gTc		inhibin, beta A							135	128	131					7																	41739593		2203	4300	6503	SO:0001583	missense	3624				cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	g.chr7:41739593G>A		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"Endogenous ligands"	6066	protein-coding gene	gene with protein product		147290	"inhibin, beta A (activin A, activin AB alpha polypeptide)"			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.380C>T	7.37:g.41739593G>A	ENSP00000242208:p.Ala127Val	TSP Lung(11;0.080)				INHBA-AS1_ENST00000422822.1_RNA|INHBA-AS1_ENST00000415848.2_RNA|AC005027.3_ENST00000416150.1_RNA|INHBA-AS1_ENST00000420821.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.A127V	p.A127V	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN			2	626	-			127					Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	c.380C>T	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061233	0.76187	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.66638	-0.22;-0.22	5.71	4.81	0.61882	Transforming growth factor-beta, N-terminal (1);	0.355123	0.28130	N	0.016497	T	0.77350	0.4117	M	0.75615	2.305	0.80722	D	1	D	0.57571	0.98	P	0.58013	0.831	T	0.75836	-0.3177	10	0.25106	T	0.35	-20.565	15.8489	0.78912	0.0:0.0:0.8632:0.1368	.	127	P08476	INHBA_HUMAN	V	127	ENSP00000242208:A127V;ENSP00000397197:A127V	ENSP00000242208:A127V	A	-	2	0	INHBA	41706118	1.000000	0.71417	0.988000	0.46212	0.985000	0.73830	6.586000	0.74067	1.367000	0.46095	0.655000	0.94253	GCC		0.522	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			5	170	0	0	0	0.000602	0	5	170					A	41739593	G	A	41739593	3	1	109	1	0	0	0	0	1	0	0	0	7741	1203	42	2	908	2	INHBA	7	41739593	Missense_Mutation	SNP	G	TCGA-DJ-A2Q5-01A-11D-A18F-08	8603462	41739593	117399070	6	2314											
CASD1	64921	broad.mit.edu	37	chr7	94183835	94183835	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaaacatccctggatatgCccgttcagtttacagttcat	7	10	2	1			TCGA-DJ-A2Q5-01A-11D-A18F-08	TCGA-DJ-A2Q5-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3352274-8864-4367-869d-dc6d790e5fda	f0edc1f8-7961-4410-b8f5-1bba9fbf379b	g.chr7:94183835C>T	ENST00000297273.4	+	17	2362	c.2075C>T	c.(2074-2076)gCc>gTc	p.A692V		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	692						integral component of membrane (GO:0016021)				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CCTGGATATGCCCGTTCAGTT	0.303																																						ENST00000297273.4																			0				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(2074-2076)gCc>gTc		CAS1 domain containing 1							147	149	148					7																	94183835		2202	4300	6502	SO:0001583	missense	64921					integral to membrane		g.chr7:94183835C>T	AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"chromosome 7 open reading frame 12"	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.2075C>T	7.37:g.94183835C>T	ENSP00000297273:p.Ala692Val						p.A692V	NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		17	2362	+	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		692					B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Missense_Mutation	SNP	ENST00000297273.4	37	c.2075C>T	CCDS5636.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.519799	0.44866	.	.	ENSG00000127995	ENST00000297273	T	0.41400	1.0	5.3	4.4	0.53042	.	0.107082	0.64402	D	0.000008	T	0.31482	0.0798	L	0.29908	0.895	0.42683	D	0.993556	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.007	T	0.09574	-1.0668	10	0.42905	T	0.14	.	12.6549	0.56782	0.0:0.8716:0.0:0.1284	.	692;692	Q8WZ77;Q96PB1	.;CASD1_HUMAN	V	692	ENSP00000297273:A692V	ENSP00000297273:A692V	A	+	2	0	CASD1	94021771	0.995000	0.38212	1.000000	0.80357	0.888000	0.51559	3.034000	0.49751	2.651000	0.90000	0.585000	0.79938	GCC		0.303	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1	NM_022900		4	57	0	0	0	0.000248	0	4	57					T	94183835	C	T	94183835	3	4	109	1	0	0	0	0	1	0	0	0	2664	739	26	2	2141	2	CASD1	7	94183835	Missense_Mutation	SNP	C	TCGA-DJ-A2Q5-01A-11D-A18F-08	52444242	94183835	64954828	7	2315											
CTTNBP2	83992	broad.mit.edu	37	chr7	117431643	117431643	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggatttcctctgtcaactCgtgctacaccatgagtcttt	8	11	3	1			TCGA-DJ-A2Q5-01A-11D-A18F-08	TCGA-DJ-A2Q5-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3352274-8864-4367-869d-dc6d790e5fda	f0edc1f8-7961-4410-b8f5-1bba9fbf379b	g.chr7:117431643C>T	ENST00000160373.3	-	4	1698	c.1607G>A	c.(1606-1608)cGa>cAa	p.R536Q	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	536	Pro-rich.				brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TCTGTCAACTCGTGCTACACC	0.547																																						ENST00000160373.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(1606-1608)cGa>cAa		cortactin binding protein 2							103	108	106					7																	117431643		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117431643C>T		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.1607G>A	7.37:g.117431643C>T	ENSP00000160373:p.Arg536Gln						p.R536Q	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	4	1698	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		536			Pro-rich.		O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.1607G>A	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491610	0.84962	.	.	ENSG00000077063	ENST00000160373	D	0.90788	-2.73	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.96318	0.8799	M	0.89478	3.035	0.48830	D	0.999712	D	0.89917	1.0	D	0.85130	0.997	D	0.96357	0.9263	10	0.72032	D	0.01	-1.8526	19.9756	0.97304	0.0:1.0:0.0:0.0	.	536	Q8WZ74	CTTB2_HUMAN	Q	536	ENSP00000160373:R536Q	ENSP00000160373:R536Q	R	-	2	0	CTTNBP2	117218879	1.000000	0.71417	0.986000	0.45419	0.696000	0.40369	7.445000	0.80570	2.793000	0.96121	0.563000	0.77884	CGA		0.547	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		33	102	0	0	0	0.002445	0	33	102					T	117431643	C	T	117431643	3	4	109	1	0	0	0	0	1	0	0	0	4045	884	31	1	3464	1	CTTNBP2	7	117431643	Missense_Mutation	SNP	C	TCGA-DJ-A2Q5-01A-11D-A18F-08	23247808	117431643	41707020	8	2316											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A2Q5-01A-11D-A18F-08	TCGA-DJ-A2Q5-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3352274-8864-4367-869d-dc6d790e5fda	f0edc1f8-7961-4410-b8f5-1bba9fbf379b	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		8	41	0	0	0	0.004482	0	8	41					T	140453136	A	T	140453136	3	4	109	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2Q5-01A-11D-A18F-08	23021493	140453136	18685527	9	2317											
ITPR2	3709	broad.mit.edu	37	chr12	26818947	26818947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attattaggcacatcagcaaCaaagaatatgagatcttcca	6	8	2	2			TCGA-DJ-A2Q5-01A-11D-A18F-08	TCGA-DJ-A2Q5-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3352274-8864-4367-869d-dc6d790e5fda	f0edc1f8-7961-4410-b8f5-1bba9fbf379b	g.chr12:26818947C>T	ENST00000381340.3	-	14	1863	c.1447G>A	c.(1447-1449)Gtt>Att	p.V483I		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	483					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.V483F(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	ACATCAGCAACAAAGAATATG	0.338																																						ENST00000381340.3																		ETV6/ITPR2(2)	1	Substitution - Missense(1)	p.V483F(1)	endometrium(1)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(1447-1449)Gtt>Att		inositol 1,4,5-trisphosphate receptor, type 2							88	79	82					12																	26818947		1827	4086	5913	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26818947C>T	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.1447G>A	12.37:g.26818947C>T	ENSP00000370744:p.Val483Ile						p.V483I	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			14	1863	-	Colorectal(261;0.0847)		483					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.1447G>A	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.327969	0.60743	.	.	ENSG00000123104	ENST00000381340	D	0.89617	-2.54	5.27	5.27	0.74061	Intracellular calcium-release channel (1);	0.058395	0.64402	D	0.000002	D	0.90707	0.7084	L	0.28192	0.835	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88620	0.3162	10	0.26408	T	0.33	.	19.0749	0.93156	0.0:1.0:0.0:0.0	.	483	Q14571	ITPR2_HUMAN	I	483	ENSP00000370744:V483I	ENSP00000370744:V483I	V	-	1	0	ITPR2	26710214	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.916000	0.69981	2.716000	0.92895	0.591000	0.81541	GTT		0.338	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		18	47	0	0	0	0.00499	0	18	47					T	26818947	C	T	26818947	3	4	109	1	0	0	0	0	1	0	0	0	7921	478	17	2	6834	2	ITPR2	12	26818947	Missense_Mutation	SNP	C	TCGA-DJ-A2Q5-01A-11D-A18F-08		26818947	107032948	10	2318											
CYP1A2	1544	broad.mit.edu	37	chr15	75043604	75043604	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	agagccagcggcaacctcatCccacaggagaagattgtcaa	10	12	2	3			TCGA-DJ-A2Q5-01A-11D-A18F-08	TCGA-DJ-A2Q5-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3352274-8864-4367-869d-dc6d790e5fda	f0edc1f8-7961-4410-b8f5-1bba9fbf379b	g.chr15:75043604C>G	ENST00000343932.4	+	3	969	c.906C>G	c.(904-906)atC>atG	p.I302M		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	302					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"	GCAACCTCATCCCACAGGAGA	0.562																																						ENST00000343932.4																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(904-906)atC>atG		cytochrome P450, family 1, subfamily A, polypeptide 2	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)						137	112	120					15																	75043604		2197	4296	6493	SO:0001583	missense	1544				alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	g.chr15:75043604C>G	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"Cytochrome P450s"	2596	protein-coding gene	gene with protein product		124060	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.906C>G	15.37:g.75043604C>G	ENSP00000342007:p.Ile302Met						p.I302M	NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN			3	969	+			302					Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	ENST00000343932.4	37	c.906C>G	CCDS32293.1	.	.	.	.	.	.	.	.	.	.	C	2.142	-0.396626	0.04899	.	.	ENSG00000140505	ENST00000343932	T	0.66638	-0.22	4.85	-1.92	0.07618	.	0.339988	0.28354	U	0.015651	T	0.52885	0.1762	L	0.51914	1.62	0.28844	N	0.896431	B	0.18310	0.027	B	0.30401	0.115	T	0.40478	-0.9561	10	0.30078	T	0.28	.	4.3044	0.10940	0.1114:0.4225:0.3271:0.139	.	302	P05177-2	.	M	302	ENSP00000342007:I302M	ENSP00000342007:I302M	I	+	3	3	CYP1A2	72830657	0.813000	0.29090	0.304000	0.25085	0.057000	0.15508	0.282000	0.18829	0.002000	0.14630	-0.379000	0.06801	ATC		0.562	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		3	67	0	0	0	0.004672	0	3	67					G	75043604	C	G	75043604	3	3	109	1	0	0	0	0	1	0	0	0	4150	845	30	4	912	4	CYP1A2	15	75043604	Missense_Mutation	SNP	C	TCGA-DJ-A2Q5-01A-11D-A18F-08		75043604	27487788	11	2319											
DHX8	1659	broad.mit.edu	37	chr17	41582066	41582066	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattgggatgatgcccaatgAtattcctgagtggaagaagc	12	6	0	4			TCGA-DJ-A2Q5-01A-11D-A18F-08	TCGA-DJ-A2Q5-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3352274-8864-4367-869d-dc6d790e5fda	f0edc1f8-7961-4410-b8f5-1bba9fbf379b	g.chr17:41582066A>G	ENST00000262415.3	+	12	1673	c.1601A>G	c.(1600-1602)gAt>gGt	p.D534G	DHX8_ENST00000540306.1_Missense_Mutation_p.D534G	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	534					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		ATGCCCAATGATATTCCTGAG	0.498																																					NSCLC(56;1548 1661 49258 49987)	ENST00000262415.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(1600-1602)gAt>gGt		DEAH (Asp-Glu-Ala-His) box polypeptide 8							187	188	188					17																	41582066		2203	4300	6503	SO:0001583	missense	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41582066A>G	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"DEAH-boxes"	2749	protein-coding gene	gene with protein product		600396	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.1601A>G	17.37:g.41582066A>G	ENSP00000262415:p.Asp534Gly					DHX8_ENST00000540306.1_Missense_Mutation_p.D534G	p.D534G	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	12	1673	+		Breast(137;0.00908)	534						Missense_Mutation	SNP	ENST00000262415.3	37	c.1601A>G	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	A	17.84	3.488961	0.64074	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.09350	2.99;2.99	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.20333	0.0489	M	0.75777	2.31	0.80722	D	1	P;B	0.46952	0.887;0.003	P;B	0.45310	0.476;0.005	T	0.01294	-1.1393	10	0.62326	D	0.03	.	14.5333	0.67942	1.0:0.0:0.0:0.0	.	534;534	F5H658;Q14562	.;DHX8_HUMAN	G	534	ENSP00000437886:D534G;ENSP00000262415:D534G	ENSP00000262415:D534G	D	+	2	0	DHX8	38937592	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.229000	0.95273	2.043000	0.60533	0.454000	0.30748	GAT		0.498	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			6	202	0	0	0	0.001168	0	6	202					G	41582066	A	G	41582066	3	3	109	1	0	0	0	0	1	0	0	0	4515	333	12	3	1647	3	DHX8	17	41582066	Missense_Mutation	SNP	A	TCGA-DJ-A2Q5-01A-11D-A18F-08		41582066	39613144	12	2320											
SLC5A1	6523	broad.mit.edu	37	chr22	32482250	32482250	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagaatgtgagaaatattgCggtaccaaggttggctgtac	12	6	1	2	rs199702272		TCGA-DJ-A2Q5-01A-11D-A18F-08	TCGA-DJ-A2Q5-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3352274-8864-4367-869d-dc6d790e5fda	f0edc1f8-7961-4410-b8f5-1bba9fbf379b	g.chr22:32482250C>T	ENST00000266088.4	+	10	1315	c.1065C>T	c.(1063-1065)tgC>tgT	p.C355C	SLC5A1_ENST00000543737.1_Silent_p.C228C	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	355					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	AGAAATATTGCGGTACCAAGG	0.468																																						ENST00000266088.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						c.(1063-1065)tgC>tgT		solute carrier family 5 (sodium/glucose cotransporter), member 1							192	166	175					22																	32482250		2203	4300	6503	SO:0001819	synonymous_variant	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32482250C>T		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"Solute carriers"	11036	protein-coding gene	gene with protein product	"sodium/glucose cotransporter 1"	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1065C>T	22.37:g.32482250C>T						SLC5A1_ENST00000543737.1_Silent_p.C228C	p.C355C	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN			10	1315	+			355					B2R7E2|B7Z4Q9|B7ZA69	Silent	SNP	ENST00000266088.4	37	c.1065C>T	CCDS13902.1																																																																																				0.468	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		4	110	0	0	0	0.000248	0	4	110					T	32482250	C	T	32482250	2	4	109	1	0	0	0	0	0	0	0	1	14661	776	27	1		1	SLC5A1	22	32482250	Silent	SNP	C	TCGA-DJ-A2Q5-01A-11D-A18F-08		32482250	18822316	13	2321											
ZNF804A	91752	broad.mit.edu	37	chr2	185802431	185802431	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgaatcagaaagattctatCgaaaacgtagacaacattca	6	7	3	4			TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr2:185802431C>T	ENST00000302277.6	+	4	2902	c.2308C>T	c.(2308-2310)Cga>Tga	p.R770*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	770							metal ion binding (GO:0046872)	p.R770*(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						AAGATTCTATCGAAAACGTAG	0.338																																						ENST00000302277.6																			1	Substitution - Nonsense(1)	p.R770*(1)	endometrium(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.(2308-2310)Cga>Tga		zinc finger protein 804A							53	55	55					2																	185802431		2203	4299	6502	SO:0001587	stop_gained	91752					intracellular	zinc ion binding	g.chr2:185802431C>T	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.2308C>T	2.37:g.185802431C>T	ENSP00000303252:p.Arg770*						p.R770*	NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN			4	2902	+			770					A7E253|Q6ZN26	Nonsense_Mutation	SNP	ENST00000302277.6	37	c.2308C>T	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	44	10.526186	0.99421	.	.	ENSG00000170396	ENST00000302277	.	.	.	5.96	5.96	0.96718	.	0.163547	0.29737	N	0.011328	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.2457	15.7954	0.78407	0.1364:0.8636:0.0:0.0	.	.	.	.	X	770	.	ENSP00000303252:R770X	R	+	1	2	ZNF804A	185510676	0.676000	0.27567	0.912000	0.35992	0.964000	0.63967	0.013000	0.13310	2.826000	0.97356	0.655000	0.94253	CGA		0.338	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		16	66	0	0	0	0.038395	0	16	66					T	185802431	C	T	185802431	4	4	110	1	0	0	0	0	0	1	0	0	18167	876	31	1	2322	1	ZNF804A	2	185802431	Nonsense_Mutation	SNP	C	TCGA-DJ-A2Q6-01A-11D-A18F-08		185802431	57396942	1	2322											
ITM2C	81618	broad.mit.edu	37	chr2	231740375	231740375	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgtggtgtgctgtatgAggactccctgtcctcccagg	13	13	0	1			TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr2:231740375A>G	ENST00000326427.6	+	3	428	c.302A>G	c.(301-303)gAg>gGg	p.E101G	ITM2C_ENST00000492029.1_3'UTR|ITM2C_ENST00000335005.6_Missense_Mutation_p.E54G|ITM2C_ENST00000409704.2_Missense_Mutation_p.E39G|ITM2C_ENST00000326407.6_Missense_Mutation_p.E101G	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C	101					negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GTGCTGTATGAGGACTCCCTG	0.567																																						ENST00000326427.6																			0				cervix(2)|lung(1)|ovary(1)|skin(1)	5						c.(301-303)gAg>gGg		integral membrane protein 2C							180	150	160					2																	231740375		2203	4300	6503	SO:0001583	missense	81618				negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding	g.chr2:231740375A>G	AF038953	CCDS2479.1, CCDS33395.1, CCDS33396.1, CCDS74665.1	2q37	2012-10-10			ENSG00000135916	ENSG00000135916		"BRICHOS domain containing"	6175	protein-coding gene	gene with protein product	"BRICHOS domain containing 2C"	609554				9653160	Standard	NM_030926		Approved	BRI3, E25, hRPC.1050_D_4, ITM3, BRICD2C	uc002vqz.3	Q9NQX7	OTTHUMG00000133219	ENST00000326427.6:c.302A>G	2.37:g.231740375A>G	ENSP00000322730:p.Glu101Gly					ITM2C_ENST00000409704.2_Missense_Mutation_p.E39G|ITM2C_ENST00000335005.6_Missense_Mutation_p.E54G|ITM2C_ENST00000326407.6_Missense_Mutation_p.E101G|ITM2C_ENST00000492029.1_3'UTR	p.E101G	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	3	428	+		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)	101					B3KPG4|Q4G0A8|Q53H84|Q6IAE7|Q86VK5|Q8N288|Q8TAW0|Q9BUP8	Missense_Mutation	SNP	ENST00000326427.6	37	c.302A>G	CCDS2479.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.992617	0.74703	.	.	ENSG00000135916	ENST00000457215;ENST00000541852;ENST00000326427;ENST00000335005;ENST00000326407;ENST00000543957;ENST00000409704;ENST00000418408	T;T;T;T;T;T;T;T	0.51817	1.27;0.76;1.72;0.69;1.63;0.76;1.37;0.76	5.02	5.02	0.67125	.	0.054454	0.64402	D	0.000001	T	0.58177	0.2104	L	0.59436	1.845	0.54753	D	0.999987	D;P;D	0.71674	0.989;0.952;0.998	P;P;P	0.61592	0.891;0.523;0.864	T	0.55679	-0.8103	10	0.31617	T	0.26	-20.5712	11.0656	0.47974	1.0:0.0:0.0:0.0	.	101;54;101	Q9NQX7-3;Q9NQX7-2;Q9NQX7	.;.;ITM2C_HUMAN	G	101;39;101;54;101;39;39;39	ENSP00000390655:E101G;ENSP00000440295:E39G;ENSP00000322730:E101G;ENSP00000335121:E54G;ENSP00000322100:E101G;ENSP00000444899:E39G;ENSP00000387242:E39G;ENSP00000403257:E39G	ENSP00000322100:E101G	E	+	2	0	ITM2C	231448619	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	6.125000	0.71627	2.115000	0.64714	0.482000	0.46254	GAG		0.567	ITM2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256954.2	NM_030926		3	170	0	0	0	0.009096	0	3	170					G	231740375	A	G	231740375	3	3	110	1	0	0	0	0	1	0	0	0	7914	304	11	3	312	3	ITM2C	2	231740375	Missense_Mutation	SNP	A	TCGA-DJ-A2Q6-01A-11D-A18F-08	45937944	231740375	11458998	2	2323											
PRICKLE2	166336	broad.mit.edu	37	chr3	64133074	64133074	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtctacgtcggctgacagCcggttagaactcacttgcag	13	11	2	2			TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr3:64133074C>T	ENST00000295902.6	-	7	1677	c.1092G>A	c.(1090-1092)cgG>cgA	p.R364R	PRICKLE2_ENST00000564377.1_Silent_p.R420R	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	364					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CGGCTGACAGCCGGTTAGAAC	0.617																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(1090-1092)cgG>cgA		prickle homolog 2 (Drosophila)							93	106	102					3																	64133074		2203	4300	6503	SO:0001819	synonymous_variant	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64133074C>T	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"prickle-like 2 (Drosophila)"			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.1092G>A	3.37:g.64133074C>T						PRICKLE2_ENST00000564377.1_Silent_p.R420R	p.R364R	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	7	1677	-		Lung NSC(201;0.136)	364					Q0VF44	Silent	SNP	ENST00000295902.6	37	c.1092G>A	CCDS2902.1																																																																																				0.617	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		5	137	0	0	0	0.021553	0	5	137					T	64133074	C	T	64133074	2	4	110	1	0	0	0	0	0	0	0	1	12487	726	26	2		2	PRICKLE2	3	64133074	Silent	SNP	C	TCGA-DJ-A2Q6-01A-11D-A18F-08		64133074	133889356	3	2324											
MARCH6	10299	broad.mit.edu	37	chr5	10414577	10414577	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgtcttcatgtgtataacAttactgattgccagcctcat	6	9	3	1			TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr5:10414577A>G	ENST00000274140.5	+	20	2061	c.1929A>G	c.(1927-1929)acA>acG	p.T643T	MARCH6_ENST00000510792.1_Silent_p.T341T|MARCH6_ENST00000503788.1_Silent_p.T538T|MARCH6_ENST00000449913.2_Silent_p.T595T	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	643					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TGTGTATAACATTACTGATTG	0.348																																						ENST00000274140.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						c.(1927-1929)acA>acG		membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase							237	208	218					5																	10414577		2203	4300	6503	SO:0001819	synonymous_variant	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10414577A>G	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	30550	protein-coding gene	gene with protein product		613297	"membrane-associated ring finger (C3HC4) 6"			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.1929A>G	5.37:g.10414577A>G						MARCH6_ENST00000503788.1_Silent_p.T538T|MARCH6_ENST00000510792.1_Silent_p.T341T|MARCH6_ENST00000449913.2_Silent_p.T595T	p.T643T	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN			20	2061	+			643					A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Silent	SNP	ENST00000274140.5	37	c.1929A>G	CCDS34135.1																																																																																				0.348	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		4	82	0	0	0	0.014758	0	4	82					G	10414577	A	G	10414577	2	3	110	1	0	0	0	0	0	0	0	1	9305	204	8	3		3	MARCH6	5	10414577	Silent	SNP	A	TCGA-DJ-A2Q6-01A-11D-A18F-08		10414577	170500683	4	2325											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		27	45	0	0	0	0.034045	0	27	45					T	140453136	A	T	140453136	3	4	110	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2Q6-01A-11D-A18F-08		140453136	18685527	5	2326											
FAM22F	54754	broad.mit.edu	37	chr9	97084601	97084601	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccgccgggccagggatcGgagaactgggctgtaaacca	14	12	0	1	rs376058940		TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr9:97084601G>A	ENST00000253262.4	-	3	744	c.724C>T	c.(724-726)Cga>Tga	p.R242*	NUTM2F_ENST00000341207.4_Nonsense_Mutation_p.R242*|NUTM2F_ENST00000335456.7_Nonsense_Mutation_p.R242*	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	242																	GCCAGGGATCGGAGAACTGGG	0.632																																						ENST00000335456.7																			0											c.(724-726)Cga>Tga		NUT family member 2F		G	stop/ARG	0,2600		0,0,1300	38	42	41		724	0.2	0.4	9		41	1,5173		0,1,2586	no	stop-gained	FAM22F	NM_017561.1		0,1,3886	AA,AG,GG		0.0193,0.0,0.0129		242/757	97084601	1,7773	1300	2587	3887	SO:0001587	stop_gained	54754							g.chr9:97084601G>A		CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"family with sequence similarity 22, member F"	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.724C>T	9.37:g.97084601G>A	ENSP00000253262:p.Arg242*					NUTM2F_ENST00000341207.4_Nonsense_Mutation_p.R242*|NUTM2F_ENST00000253262.4_Nonsense_Mutation_p.R242*	p.R242*							3	744	-								B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Nonsense_Mutation	SNP	ENST00000253262.4	37	c.724C>T	CCDS47994.1	.	.	.	.	.	.	.	.	.	.	.	16.25	3.070437	0.55539	0.0	1.93E-4	ENSG00000130950	ENST00000335456;ENST00000253262;ENST00000341207	.	.	.	1.2	0.228	0.15364	.	0.141745	0.32736	N	0.005705	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.5239	0.11973	0.0:0.0:0.6224:0.3776	.	.	.	.	X	242	.	ENSP00000253262:R242X	R	-	1	2	FAM22F	96124422	0.081000	0.21417	0.428000	0.26697	0.206000	0.24218	1.143000	0.31553	0.087000	0.17167	-0.496000	0.04628	CGA		0.632	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053173.2	NM_017561		4	41	0	0	0	0.009096	0	4	41					A	97084601	G	A	97084601	4	1	110	1	0	0	0	0	0	1	0	0	5545	1124	39	1	1566	1	FAM22F	9	97084601	Nonsense_Mutation	SNP	G	TCGA-DJ-A2Q6-01A-11D-A18F-08		97084601	44128830	6	2327											
CELF2	10659	broad.mit.edu	37	chr10	11370890	11370890	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctctcggtattttccaggTtttgttagctacgacaatcc	7	11	1	0			TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr10:11370890T>C	ENST00000379261.4	+	13	1493	c.1401T>C	c.(1399-1401)ggT>ggC	p.G467G	CELF2_ENST00000450189.1_Splice_Site_p.G480G|CELF2_ENST00000608830.1_Splice_Site_p.G447G|CELF2_ENST00000609692.1_Splice_Site_p.G399G|CELF2_ENST00000354440.2_Splice_Site_p.G449G|CELF2_ENST00000416382.2_Splice_Site_p.G467G|CELF2_ENST00000315874.4_Splice_Site_p.G449G|CELF2_ENST00000354897.3_Splice_Site_p.G461G|CELF2_ENST00000399850.3_Splice_Site_p.G449G|CELF2_ENST00000537122.1_Splice_Site_p.G362G|CELF2_ENST00000542579.1_Splice_Site_p.G480G|CELF2_ENST00000427450.1_Splice_Site_p.G449G|CELF2_ENST00000417956.2_Splice_Site_p.G447G	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	467	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						ATTTTCCAGGTTTTGTTAGCT	0.517																																						ENST00000379261.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						c.e13-1		CUGBP, Elav-like family member 2							79	81	80					10																	11370890		2080	4244	6324	SO:0001630	splice_region_variant	10659				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr10:11370890T>C	U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"RNA binding motif (RRM) containing"	2550	protein-coding gene	gene with protein product		602538	"CUG triplet repeat, RNA-binding protein 2", "CUG triplet repeat, RNA binding protein 2"	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.1400-1T>C	10.37:g.11370890T>C						CELF2_ENST00000427450.1_Splice_Site_p.G449_splice|CELF2_ENST00000417956.2_Splice_Site_p.G447_splice|CELF2_ENST00000416382.2_Splice_Site_p.G467_splice|CELF2_ENST00000315874.3_Splice_Site_p.G449_splice|CELF2_ENST00000354897.3_Splice_Site_p.G461_splice|CELF2_ENST00000354440.2_Splice_Site_p.G449_splice|CELF2_ENST00000399850.3_Splice_Site_p.G449_splice|CELF2_ENST00000450189.1_Splice_Site_p.G480_splice|CELF2_ENST00000537122.1_Splice_Site_p.G362_splice|CELF2_ENST00000542579.1_Splice_Site_p.G480_splice	p.G467_splice	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN			13	1493	+			467			Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 3.		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Splice_Site	SNP	ENST00000379261.4	37	c.1399_splice	CCDS44354.1																																																																																				0.517	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding			Silent	3	96	0	0	0	0.009096	0	3	96					C	11370890	T	C	11370890	5	2	110	1	0	0	0	0	0	0	1	0	3216	1739	60	3	1559	3	CELF2	10	11370890	Splice_Site	SNP	T	TCGA-DJ-A2Q6-01A-11D-A18F-08		11370890	124163857	7	2328											
CYP2C9	1559	broad.mit.edu	37	chr10	96701709	96701709	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcagtgaaggaagccctgaTtgatcttggagaggagtttt	14	5	1	4	rs139656048		TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr10:96701709T>C	ENST00000260682.6	+	2	275	c.263T>C	c.(262-264)aTt>aCt	p.I88T	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	88					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	GAAGCCCTGATTGATCTTGGA	0.478																																					Ovarian(54;1266 1406 16072 35076)	ENST00000260682.6																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(262-264)aTt>aCt		cytochrome P450, family 2, subfamily C, polypeptide 9	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	T	THR/ILE	4,4402		0,4,2199	288	274	279		263	-1.4	0.0	10	dbSNP_134	279	0,8600		0,0,4300	no	missense	CYP2C9	NM_000771.3	89	0,4,6499	CC,CT,TT		0.0,0.0908,0.0308	benign	88/491	96701709	4,13002	2203	4300	6503	SO:0001583	missense	1559				exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96701709T>C	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"Cytochrome P450s"	2623	protein-coding gene	gene with protein product		601130	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.263T>C	10.37:g.96701709T>C	ENSP00000260682:p.Ile88Thr					CYP2C9_ENST00000461906.1_3'UTR	p.I88T	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN		all cancers(201;6.93e-05)	2	275	+		Colorectal(252;0.0902)	88					P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	ENST00000260682.6	37	c.263T>C	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	.	8.925	0.962142	0.18583	9.08E-4	0.0	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.69926	-0.44	3.34	-1.37	0.09056	.	0.087817	0.46145	U	0.000309	T	0.64918	0.2642	L	0.43701	1.375	0.30610	N	0.759584	B;B;B	0.32350	0.172;0.172;0.366	B;B;P	0.51550	0.279;0.279;0.673	T	0.64580	-0.6374	10	0.59425	D	0.04	.	3.6159	0.08077	0.3254:0.1071:0.0:0.5675	.	88;88;88	Q5VX92;P11712;Q8WW80	.;CP2C9_HUMAN;.	T	88	ENSP00000260682:I88T	ENSP00000260682:I88T	I	+	2	0	CYP2C9	96691699	1.000000	0.71417	0.019000	0.16419	0.284000	0.27059	4.882000	0.63121	-0.370000	0.08016	0.397000	0.26171	ATT		0.478	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771		13	158	0	0	0	0.024245	0	13	158					C	96701709	T	C	96701709	3	2	110	1	0	0	0	0	1	0	0	0	4168	1493	52	3	269	3	CYP2C9	10	96701709	Missense_Mutation	SNP	T	TCGA-DJ-A2Q6-01A-11D-A18F-08	85330819	96701709	38833038	8	2329											
AHNAK	79026	broad.mit.edu	37	chr11	62294421	62294421	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacatcaactttggggccccTgatgttcatatctggtactt	8	10	3	1			TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr11:62294421T>C	ENST00000378024.4	-	5	7742	c.7468A>G	c.(7468-7470)Agg>Ggg	p.R2490G	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2490					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTGGGGCCCCTGATGTTCATA	0.478																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(7468-7470)Agg>Ggg		AHNAK nucleoprotein							151	154	153					11																	62294421		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62294421T>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.7468A>G	11.37:g.62294421T>C	ENSP00000367263:p.Arg2490Gly					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.R2490G	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	7742	-		Melanoma(852;0.155)	2490					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.7468A>G	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	t	1.631	-0.519027	0.04171	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.05199	3.48	4.23	1.83	0.25207	.	.	.	.	.	T	0.04318	0.0119	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39057	-0.9632	9	0.87932	D	0	.	4.5738	0.12223	0.0:0.1899:0.163:0.6471	.	2490	Q09666	AHNK_HUMAN	G	579;2490	ENSP00000367263:R2490G	ENSP00000244934:R579G	R	-	1	2	AHNAK	62050997	0.034000	0.19679	0.003000	0.11579	0.001000	0.01503	1.588000	0.36633	0.516000	0.28340	0.370000	0.22315	AGG		0.478	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		4	209	0	0	0	0.014758	0	4	209					C	62294421	T	C	62294421	3	2	110	1	0	0	0	0	1	0	0	0	414	1579	55	3	10324	3	AHNAK	11	62294421	Missense_Mutation	SNP	T	TCGA-DJ-A2Q6-01A-11D-A18F-08		62294421	72712095	9	2330											
OR4D5	219875	broad.mit.edu	37	chr11	123811251	123811251	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaggaaaaaggaccctattGgtcccctggagcacagaccc	12	12	0	1	rs143337717		TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr11:123811251G>T	ENST00000307033.2	+	1	1002	c.928G>T	c.(928-930)Ggt>Tgt	p.G310C		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		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)		GGACCCTATTGGTCCCCTGGA	0.502																																						ENST00000307033.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(928-930)Ggt>Tgt		olfactory receptor, family 4, subfamily D, member 5		G	CYS/GLY	0,4404		0,0,2202	63	64	64		928	0.9	0.0	11	dbSNP_134	64	1,8597	1.2+/-3.3	0,1,4298	no	missense	OR4D5	NM_001001965.1	159	0,1,6500	TT,TG,GG		0.0116,0.0,0.0077	possibly-damaging	310/319	123811251	1,13001	2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123811251G>T	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"GPCR / Class A : Olfactory receptors"	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.928G>T	11.37:g.123811251G>T	ENSP00000305970:p.Gly310Cys						p.G310C	NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	1002	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	310					B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.928G>T	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732086	0.30684	0.0	1.16E-4	ENSG00000171014	ENST00000307033	T	0.00291	8.27	4.06	0.94	0.19513	.	1.922100	0.03237	U	0.179774	T	0.00178	0.0005	L	0.27053	0.805	0.09310	N	1	P	0.51933	0.949	B	0.39185	0.293	T	0.43048	-0.9415	10	0.72032	D	0.01	1.7891	4.7886	0.13238	0.2185:0.1741:0.6074:0.0	.	310	Q8NGN0	OR4D5_HUMAN	C	310	ENSP00000305970:G310C	ENSP00000305970:G310C	G	+	1	0	OR4D5	123316461	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.090000	0.15025	0.080000	0.16959	-1.109000	0.02080	GGT		0.502	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		24	43	1	0	5.45024e-15	0.083992	7.54649e-15	24	43					T	123811251	G	T	123811251	3	4	110	1	0	0	0	0	1	0	0	0	11057	1348	47	4	930	4	OR4D5	11	123811251	Missense_Mutation	SNP	G	TCGA-DJ-A2Q6-01A-11D-A18F-08	61516830	123811251	11195265	10	2331											
CACNB3	784	broad.mit.edu	37	chr12	49218501	49218501	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acattggcaaccgacgctccCctccgccatctctaggtagc	8	17	1	0			TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr12:49218501C>G	ENST00000301050.2	+	5	656	c.457C>G	c.(457-459)Cct>Gct	p.P153A	CACNB3_ENST00000547230.1_Missense_Mutation_p.P112A|CACNB3_ENST00000550168.1_3'UTR|CACNB3_ENST00000540990.1_Missense_Mutation_p.P140A|CACNB3_ENST00000547392.1_Missense_Mutation_p.P153A|CACNB3_ENST00000536187.2_Missense_Mutation_p.P152A	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	153					axon guidance (GO:0007411)|calcium ion transport (GO:0006816)|membrane depolarization (GO:0051899)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|membrane (GO:0016020)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CCGACGCTCCCCTCCGCCATC	0.547																																						ENST00000301050.2																			0				autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12						c.(457-459)Cct>Gct		calcium channel, voltage-dependent, beta 3 subunit	Verapamil(DB00661)						50	51	51					12																	49218501		2203	4300	6503	SO:0001583	missense	784				axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr12:49218501C>G		CCDS8769.1, CCDS55821.1, CCDS55822.1, CCDS55823.1	12q13	2008-05-02				ENSG00000167535		"Calcium channel subunits"	1403	protein-coding gene	gene with protein product		601958		CACNLB3		8119293	Standard	NM_000725		Approved		uc010sly.2	P54284		ENST00000301050.2:c.457C>G	12.37:g.49218501C>G	ENSP00000301050:p.Pro153Ala					CACNB3_ENST00000547392.1_Missense_Mutation_p.P153A|CACNB3_ENST00000547230.1_Missense_Mutation_p.P112A|CACNB3_ENST00000540990.1_Missense_Mutation_p.P140A|CACNB3_ENST00000536187.2_Missense_Mutation_p.P152A|CACNB3_ENST00000550168.1_3'UTR	p.P153A	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN			5	656	+			153					A8K0Z4|B7Z4Q1|B7Z973|B7ZAK8|F5GZW7|F5H2P6|F8VSG3|Q13913	Missense_Mutation	SNP	ENST00000301050.2	37	c.457C>G	CCDS8769.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.527673	0.44969	.	.	ENSG00000167535	ENST00000540990;ENST00000536187;ENST00000547392;ENST00000301050;ENST00000547230	D;D;D;D;T	0.82081	-1.57;-1.57;-1.55;-1.57;0.93	5.67	5.67	0.87782	Src homology-3 domain (1);	0.048323	0.85682	D	0.000000	T	0.71307	0.3324	N	0.14661	0.345	0.46542	D	0.999097	P;P;B;B	0.37207	0.587;0.587;0.098;0.451	B;B;B;B	0.38156	0.266;0.266;0.066;0.137	T	0.69323	-0.5175	10	0.13108	T	0.6	-9.9238	16.6702	0.85264	0.0:1.0:0.0:0.0	.	152;140;140;153	F5GZW7;F5H2P6;B7Z6T5;P54284	.;.;.;CACB3_HUMAN	A	140;152;153;153;112	ENSP00000445495:P140A;ENSP00000444160:P152A;ENSP00000446529:P153A;ENSP00000301050:P153A;ENSP00000448304:P112A	ENSP00000301050:P153A	P	+	1	0	CACNB3	47504768	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	3.312000	0.51927	2.686000	0.91538	0.655000	0.94253	CCT		0.547	CACNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408886.1			3	68	0	0	0	0.004672	0	3	68					G	49218501	C	G	49218501	3	3	110	1	0	0	0	0	1	0	0	0	2554	623	22	4	475	4	CACNB3	12	49218501	Missense_Mutation	SNP	C	TCGA-DJ-A2Q6-01A-11D-A18F-08		49218501	84633394	11	2332											
GPR179	440435	broad.mit.edu	37	chr17	36484931	36484931	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcttccttttctggaggcTttttccttttcttgaagaga	8	8	2	2			TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr17:36484931T>C	ENST00000342292.4	-	11	4541	c.4521A>G	c.(4519-4521)aaA>aaG	p.K1507K	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1507					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)				TTCTGGAGGCTTTTTCCTTTT	0.483																																						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.(4519-4521)aaA>aaG		G protein-coupled receptor 179							166	166	166					17																	36484931		1981	4173	6154	SO:0001819	synonymous_variant	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36484931T>C		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.4521A>G	17.37:g.36484931T>C							p.K1507K	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			11	4541	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1507						Silent	SNP	ENST00000342292.4	37	c.4521A>G	CCDS42308.1																																																																																				0.483	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			3	218	0	0	0	0.004672	0	3	218					C	36484931	T	C	36484931	2	2	110	1	0	0	0	0	0	0	0	1	6674	1606	56	3		3	GPR179	17	36484931	Silent	SNP	T	TCGA-DJ-A2Q6-01A-11D-A18F-08		36484931	44710279	12	2333											
MEOX1	4222	broad.mit.edu	37	chr17	41738500	41738500	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcagtgctcccaagcacccCgtagtcatcgcctgggcctc	11	17	1	0			TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr17:41738500C>A	ENST00000318579.4	-	1	822	c.403G>T	c.(403-405)Ggg>Tgg	p.G135W	MEOX1_ENST00000393661.2_Missense_Mutation_p.G20W|MEOX1_ENST00000549132.1_Silent_p.T105T|MEOX1_ENST00000329168.3_Missense_Mutation_p.G135W	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	135					multicellular organismal development (GO:0007275)|somite specification (GO:0001757)	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 positive regulation of transcription (GO:0001077)	p.G135W(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		CCAAGCACCCCGTAGTCATCG	0.607																																						ENST00000318579.4																			1	Substitution - Missense(1)	p.G135W(1)	lung(1)	NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8						c.(403-405)Ggg>Tgg		mesenchyme homeobox 1							138	144	142					17																	41738500		2203	4300	6503	SO:0001583	missense	4222					nucleus	sequence-specific DNA binding	g.chr17:41738500C>A		CCDS11466.1, CCDS11467.1, CCDS42343.1	17q21.31	2014-07-15	2005-12-22					"Homeoboxes / ANTP class : HOXL subclass"	7013	protein-coding gene	gene with protein product		600147	"mesenchyme homeo box 1"			7987315	Standard	NM_013999		Approved	MOX1	uc002idz.3	P50221	OTTHUMG00000170513	ENST00000318579.4:c.403G>T	17.37:g.41738500C>A	ENSP00000321684:p.Gly135Trp					MEOX1_ENST00000549132.1_Silent_p.T105T|MEOX1_ENST00000329168.3_Missense_Mutation_p.G135W|MEOX1_ENST00000393661.2_Missense_Mutation_p.G20W	p.G135W	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0753)	1	822	-		Breast(137;0.00908)	135					A8K524|A8MWF9|Q15069	Missense_Mutation	SNP	ENST00000318579.4	37	c.403G>T	CCDS11466.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.624207	0.28889	.	.	ENSG00000005102	ENST00000318579;ENST00000329168;ENST00000393661	D;T;D	0.92348	-3.02;0.88;-2.83	4.92	2.92	0.33932	.	0.614481	0.18470	N	0.140257	D	0.90438	0.7006	L	0.39898	1.24	0.09310	N	1	D;D	0.60160	0.987;0.975	P;P	0.53809	0.667;0.735	T	0.82770	-0.0293	10	0.66056	D	0.02	-9.7965	7.765	0.28974	0.0:0.6654:0.0:0.3346	.	135;135	Q15069;P50221	.;MEOX1_HUMAN	W	135;135;20	ENSP00000321684:G135W;ENSP00000328678:G135W;ENSP00000377271:G20W	ENSP00000321684:G135W	G	-	1	0	MEOX1	39094026	0.318000	0.24598	0.853000	0.33588	0.381000	0.30169	0.945000	0.29056	0.652000	0.30806	-0.150000	0.13652	GGG		0.607	MEOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409452.1			4	178	1	0	0.000602214	0.014758	0.000802953	4	178					A	41738500	C	A	41738500	3	1	110	1	0	0	0	0	1	0	0	0	9473	652	23	4	373	4	MEOX1	17	41738500	Missense_Mutation	SNP	C	TCGA-DJ-A2Q6-01A-11D-A18F-08	5253569	41738500	39456710	13	2334											
SULF2	55959	broad.mit.edu	37	chr20	46313295	46313295	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcatgatccagtgtttgtcCgggttgggcgcgtagttgta	15	8	0	1	rs201684871		TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr20:46313295C>T	ENST00000359930.4	-	6	1619	c.768G>A	c.(766-768)ccG>ccA	p.P256P	SULF2_ENST00000361612.4_Silent_p.P256P|CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000484875.1_Silent_p.P256P|SULF2_ENST00000467815.1_Silent_p.P256P	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	256					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						AGTGTTTGTCCGGGTTGGGCG	0.617													C|||	1	0.000199681	0	0.0014	5008	,	,		19552	0		0	False		,,,				2504	0					ENST00000359930.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(766-768)ccG>ccA		sulfatase 2							160	108	126					20																	46313295		2203	4300	6503	SO:0001819	synonymous_variant	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46313295C>T	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.768G>A	20.37:g.46313295C>T						CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000361612.4_Silent_p.P256P|SULF2_ENST00000484875.1_Silent_p.P256P|SULF2_ENST00000467815.1_Silent_p.P256P	p.P256P	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN			6	1619	-			256					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Silent	SNP	ENST00000359930.4	37	c.768G>A	CCDS13408.1																																																																																				0.617	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		3	34	0	0	0	0.004672	0	3	34					T	46313295	C	T	46313295	2	4	110	1	0	0	0	0	0	0	0	1	15370	639	23	1		1	SULF2	20	46313295	Silent	SNP	C	TCGA-DJ-A2Q6-01A-11D-A18F-08		46313295	16712225	14	2335											
DGCR8	54487	broad.mit.edu	37	chr22	20077288	20077288	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctacacagagagtctcgggTggtcacctggtccaggccat	12	13	2	1			TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr22:20077288T>G	ENST00000351989.3	+	4	1406	c.977T>G	c.(976-978)gTg>gGg	p.V326G	DGCR8_ENST00000407755.1_Missense_Mutation_p.V326G|DGCR8_ENST00000383024.2_Missense_Mutation_p.V326G	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	326	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with NCL.|WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GAGTCTCGGGTGGTCACCTGG	0.572																																						ENST00000351989.3																			0				NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(976-978)gTg>gGg		DGCR8 microprocessor complex subunit							135	122	126					22																	20077288		2203	4300	6503	SO:0001583	missense	54487				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20077288T>G	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"chromosome 22 open reading frame 12", "DiGeorge syndrome critical region gene 8"	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.977T>G	22.37:g.20077288T>G	ENSP00000263209:p.Val326Gly					DGCR8_ENST00000407755.1_Missense_Mutation_p.V326G|DGCR8_ENST00000383024.2_Missense_Mutation_p.V326G	p.V326G	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN			4	1406	+	Colorectal(54;0.0993)		326			Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with NCL.|WW.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	c.977T>G	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.029815	0.93575	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.57273	0.47;0.41;0.41	5.68	5.68	0.88126	WW/Rsp5/WWP (3);	0.000000	0.85682	D	0.000000	T	0.70378	0.3217	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	0.971;1.0	P;D	0.85130	0.776;0.997	T	0.73503	-0.3962	10	0.87932	D	0	-15.2409	15.5895	0.76517	0.0:0.0:0.0:1.0	.	326;326	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	G	326	ENSP00000263209:V326G;ENSP00000372488:V326G;ENSP00000384726:V326G	ENSP00000263209:V326G	V	+	2	0	DGCR8	18457288	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.673000	0.83973	2.163000	0.67991	0.528000	0.53228	GTG		0.572	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			6	97	0	0	0	0.020292	0	6	97					G	20077288	T	G	20077288	3	3	110	1	0	0	0	0	1	0	0	0	4464	1696	59	5	987	5	DGCR8	22	20077288	Missense_Mutation	SNP	T	TCGA-DJ-A2Q6-01A-11D-A18F-08		20077288	31227278	15	2336											
KIAA1522	57648	broad.mit.edu	37	chr1	33236588	33236588	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggcctggcaggtccccctgCttccccaggcaaggcccagc	13	18	0	0	rs576382004		TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr1:33236588C>G	ENST00000373480.1	+	6	1734	c.1631C>G	c.(1630-1632)gCt>gGt	p.A544G	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000401073.2_Missense_Mutation_p.A603G|KIAA1522_ENST00000373481.3_Missense_Mutation_p.A555G	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	544	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GGTCCCCCTGCTTCCCCAGGC	0.642																																						ENST00000401073.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1807-1809)gCt>gGt		KIAA1522							56	60	59					1																	33236588		1907	4093	6000	SO:0001583	missense	57648							g.chr1:33236588C>G	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.1631C>G	1.37:g.33236588C>G	ENSP00000362579:p.Ala544Gly					KIAA1522_ENST00000373480.1_Missense_Mutation_p.A544G|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.A555G	p.A603G	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN			6	1878	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	544			Pro-rich.		B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	ENST00000373480.1	37	c.1808C>G	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.873003	0.33069	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	T;T;T	0.13196	2.61;2.64;2.65	3.9	3.9	0.45041	.	0.108692	0.39544	N	0.001330	T	0.11580	0.0282	L	0.51422	1.61	0.26103	N	0.98079	B;B;B	0.28082	0.089;0.089;0.2	B;B;B	0.24155	0.035;0.035;0.051	T	0.12243	-1.0555	10	0.28530	T	0.3	-7.1315	8.0633	0.30646	0.0:0.7502:0.1602:0.0895	.	555;544;603	Q9P206-3;Q9P206;Q9P206-2	.;K1522_HUMAN;.	G	603;555;544	ENSP00000383851:A603G;ENSP00000362580:A555G;ENSP00000362579:A544G	ENSP00000362579:A544G	A	+	2	0	KIAA1522	33009175	0.013000	0.17824	1.000000	0.80357	0.984000	0.73092	2.564000	0.45931	2.154000	0.67381	0.462000	0.41574	GCT		0.642	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			6	66	0	0	0	0.248553	0	6	66					G	33236588	C	G	33236588	3	3	111	1	0	0	0	0	1	0	0	0	8238	797	28	4	1830	4	KIAA1522	1	33236588	Missense_Mutation	SNP	C	TCGA-DJ-A2Q7-01A-11D-A18F-08		33236588	216014033	1	2337											
L1TD1	54596	broad.mit.edu	37	chr1	62676947	62676947	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaaatggcatttgattttaGgggtaaaacaaaggtatttc	9	4	0	1			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr1:62676947G>T	ENST00000498273.1	+	4	2796	c.2501G>T	c.(2500-2502)aGg>aTg	p.R834M	Y_RNA_ENST00000363304.1_RNA	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	834										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						tttgattttaggggtaaaaca	0.358																																						ENST00000498273.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(2500-2502)aGg>aTg		LINE-1 type transposase domain containing 1							24	24	24					1																	62676947		2203	4300	6503	SO:0001583	missense	54596							g.chr1:62676947G>T	BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.2501G>T	1.37:g.62676947G>T	ENSP00000419901:p.Arg834Met						p.R834M	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN			4	2796	+			834					Q8NDA1|Q9NUV8|Q9NV78	Missense_Mutation	SNP	ENST00000498273.1	37	c.2501G>T	CCDS619.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.133989	0.37630	.	.	ENSG00000240563	ENST00000498273	T	0.13901	2.55	2.67	1.54	0.23209	.	.	.	.	.	T	0.11665	0.0284	N	0.08118	0	0.09310	N	1	P	0.50617	0.937	P	0.56474	0.799	T	0.15780	-1.0425	9	0.72032	D	0.01	.	4.0355	0.09727	0.8136:0.0:0.1864:0.0	.	834	Q5T7N2	LITD1_HUMAN	M	834	ENSP00000419901:R834M	ENSP00000419901:R834M	R	+	2	0	L1TD1	62449535	0.767000	0.28508	0.256000	0.24389	0.689000	0.40095	0.682000	0.25335	0.476000	0.27440	0.305000	0.20034	AGG		0.358	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079		3	25	1	0	0.004672	0.115264	0.0051392	3	25					T	62676947	G	T	62676947	3	4	111	1	0	0	0	0	1	0	0	0	8589	1000	35	4	2507	4	L1TD1	1	62676947	Missense_Mutation	SNP	G	TCGA-DJ-A2Q7-01A-11D-A18F-08	29440359	62676947	186573674	2	2338											
WDR47	22911	broad.mit.edu	37	chr1	109544904	109544904	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aggaccatcctcctgattcaCgcctccttcaagcaacatct	5	16	3	1			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr1:109544904C>G	ENST00000369962.3	-	7	1597	c.1375G>C	c.(1375-1377)Gtg>Ctg	p.V459L	WDR47_ENST00000400794.3_Missense_Mutation_p.V467L|WDR47_ENST00000361054.3_Missense_Mutation_p.V431L|WDR47_ENST00000369965.4_Missense_Mutation_p.V460L|WDR47_ENST00000357672.3_Missense_Mutation_p.V431L			O94967	WDR47_HUMAN	WD repeat domain 47	459	Gln-rich.				multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TCCTGATTCACGCCTCCTTCA	0.383																																						ENST00000357672.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(1291-1293)Gtg>Ctg		WD repeat domain 47							189	162	171					1																	109544904		2203	4300	6503	SO:0001583	missense	22911							g.chr1:109544904C>G	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"WD repeat domain containing"	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.1375G>C	1.37:g.109544904C>G	ENSP00000358979:p.Val459Leu					WDR47_ENST00000369962.3_Missense_Mutation_p.V459L|WDR47_ENST00000369965.4_Missense_Mutation_p.V460L|WDR47_ENST00000361054.3_Missense_Mutation_p.V431L|WDR47_ENST00000400794.3_Missense_Mutation_p.V467L	p.V431L			O94967	WDR47_HUMAN		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)	6	1666	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	459			Gln-rich.		A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	ENST00000369962.3	37	c.1291G>C	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394758	0.83011	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	T;T;T;T;T	0.58652	0.32;0.35;0.32;0.32;0.32	5.3	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.54679	0.1873	L	0.32530	0.975	0.52501	D	0.99995	D;D;D;D	0.69078	0.996;0.997;0.997;0.996	D;D;D;D	0.77004	0.989;0.988;0.988;0.989	T	0.56848	-0.7911	10	0.37606	T	0.19	-2.0252	14.1082	0.65104	0.0:0.9269:0.0:0.0731	.	431;467;459;460	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	L	467;459;431;460;431	ENSP00000383599:V467L;ENSP00000358979:V459L;ENSP00000354339:V431L;ENSP00000358982:V460L;ENSP00000350301:V431L	ENSP00000350301:V431L	V	-	1	0	WDR47	109346427	1.000000	0.71417	0.958000	0.39756	0.967000	0.64934	6.968000	0.76086	1.234000	0.43709	0.491000	0.48974	GTG		0.383	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969		10	128	0	0	0	0.335167	0	10	128					G	109544904	C	G	109544904	3	3	111	1	0	0	0	0	1	0	0	0	17297	536	19	4	1420	4	WDR47	1	109544904	Missense_Mutation	SNP	C	TCGA-DJ-A2Q7-01A-11D-A18F-08	46867957	109544904	139705717	3	2339											
PEX19	5824	broad.mit.edu	37	chr1	160249975	160249975	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acatgacgctgtgctgctccTgatatttttcaaactgctct	7	11	2	2			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr1:160249975T>C	ENST00000368072.5	-	6	677	c.656A>G	c.(655-657)cAg>cGg	p.Q219R	PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000556710.1_Missense_Mutation_p.Q72R|PEX19_ENST00000440949.3_Missense_Mutation_p.Q129R|DCAF8_ENST00000608310.1_Missense_Mutation_p.Q72R	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1	P40855	PEX19_HUMAN	peroxisomal biogenesis factor 19	219					chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|establishment of protein localization to peroxisome (GO:0072663)|negative regulation of lipid binding (GO:1900131)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	ATPase binding (GO:0051117)|peroxisome membrane class-1 targeting sequence binding (GO:0036105)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGCTGCTCCTGATATTTTTC	0.448																																						ENST00000368072.5																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11						c.(655-657)cAg>cGg		peroxisomal biogenesis factor 19							173	170	171					1																	160249975		2203	4300	6503	SO:0001583	missense	5824							g.chr1:160249975T>C	Y09048	CCDS1201.1	1q22	2008-07-18	2004-03-17	2004-03-19	ENSG00000162735	ENSG00000162735			9713	protein-coding gene	gene with protein product	"housekeeping gene, 33kD"	600279	"peroxisomal farnesylated protein"	PXF		9339377, 10051604	Standard	NM_002857		Approved	HK33, D1S2223E, PMP1, PMPI, PXMP1		P40855	OTTHUMG00000033112	ENST00000368072.5:c.656A>G	1.37:g.160249975T>C	ENSP00000357051:p.Gln219Arg					PEX19_ENST00000440949.3_Missense_Mutation_p.Q129R|PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000556710.1_Missense_Mutation_p.Q72R	p.Q219R	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1			BRCA - Breast invasive adenocarcinoma(70;0.111)		6	677	-	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)							D3DVE7|Q5QNY4|Q8NI97	Missense_Mutation	SNP	ENST00000368072.5	37	c.656A>G	CCDS1201.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.113250	0.77210	.	.	ENSG00000132716;ENSG00000258465;ENSG00000258465;ENSG00000162735;ENSG00000162735;ENSG00000162735;ENSG00000162735	ENST00000555195;ENST00000556710;ENST00000485079;ENST00000368072;ENST00000429425;ENST00000440949;ENST00000392220	T;T	0.63096	-0.02;-0.02	5.66	3.32	0.38043	.	0.177837	0.49305	D	0.000154	T	0.25754	0.0627	N	0.12182	0.205	0.39909	D	0.974002	B;B	0.30068	0.267;0.002	B;B	0.36378	0.223;0.004	T	0.08848	-1.0702	10	0.38643	T	0.18	-0.8799	6.5253	0.22297	0.1401:0.0767:0.0:0.7831	.	72;219	G3V3G9;P40855	.;PEX19_HUMAN	R	72;72;89;219;199;129;199	ENSP00000451989:Q72R;ENSP00000451235:Q72R	ENSP00000357051:Q219R	Q	-	2	0	RP11-574F21.3;PEX19;DCAF8	158516599	1.000000	0.71417	0.997000	0.53966	0.963000	0.63663	3.175000	0.50855	0.932000	0.37266	0.460000	0.39030	CAG		0.448	PEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080642.2	NM_002857		4	199	0	0	0	0.150653	0	4	199					C	160249975	T	C	160249975	3	2	111	1	0	0	0	0	1	0	0	0	11744	1580	55	3	255	3	PEX19	1	160249975	Missense_Mutation	SNP	T	TCGA-DJ-A2Q7-01A-11D-A18F-08	50705071	160249975	89000646	4	2340											
FCGR2B	2213	broad.mit.edu	37	chr1	161641233	161641233	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccccagtggatcaacgtgcTccaggaggactctgtgactc	12	13	2	1			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr1:161641233T>C	ENST00000358671.5	+	3	266	c.185T>C	c.(184-186)cTc>cCc	p.L62P	FCGR2B_ENST00000367961.4_Missense_Mutation_p.L55P|FCGR2B_ENST00000236937.9_Missense_Mutation_p.L62P|FCGR2B_ENST00000367962.4_Missense_Mutation_p.L62P|FCGR2B_ENST00000428605.2_Missense_Mutation_p.L62P|FCGR2B_ENST00000367960.5_Missense_Mutation_p.L55P|FCGR2B_ENST00000403078.3_Missense_Mutation_p.L62P|RP11-25K21.1_ENST00000453111.1_RNA	NM_001002275.2|NM_004001.4	NP_001002275.1|NP_003992.3	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	62	Ig-like C2-type 1.				immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)						all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Antithymocyte globulin(DB00098)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATCAACGTGCTCCAGGAGGAC	0.587			T	?	ALL																																	ENST00000367962.4				Dom	yes		1	1q23	2213	T	"Fc fragment of IgG, low affinity IIb, receptor for (CD32)"			L	?		ALL		0											c.(184-186)cTc>cCc		Fc fragment of IgG, low affinity IIb, receptor (CD32)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						97	99	99					1																	161641233		2203	4300	6503	SO:0001583	missense	2213				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161641233T>C	BC031992	CCDS30924.1, CCDS30925.1, CCDS53414.1	1q23	2013-01-11	2005-02-02		ENSG00000072694	ENSG00000072694		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3618	protein-coding gene	gene with protein product		604590	"Fc fragment of IgG, low affinity IIb, receptor for (CD32)"	FCG2, FCGR2		2139735	Standard	NM_004001		Approved	CD32, CD32B	uc001gaz.2	P31994	OTTHUMG00000034470	ENST00000358671.5:c.185T>C	1.37:g.161641233T>C	ENSP00000351497:p.Leu62Pro					FCGR2B_ENST00000236937.9_Missense_Mutation_p.L62P|FCGR2B_ENST00000428605.2_Missense_Mutation_p.L62P|FCGR2B_ENST00000367961.4_Missense_Mutation_p.L55P|FCGR2B_ENST00000358671.5_Missense_Mutation_p.L62P|FCGR2B_ENST00000403078.3_Missense_Mutation_p.L62P|FCGR2B_ENST00000367960.5_Missense_Mutation_p.L55P	p.L62P			P31994	FCG2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	312	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		62			Ig-like C2-type 1.		A6H8N3|O95649|Q53X85|Q5VXA9|Q8NIA1	Missense_Mutation	SNP	ENST00000358671.5	37	c.185T>C	CCDS30924.1	.	.	.	.	.	.	.	.	.	.	T	17.05	3.289104	0.59976	.	.	ENSG00000072694	ENST00000367962;ENST00000367960;ENST00000403078;ENST00000428605;ENST00000236937;ENST00000367961;ENST00000358671;ENST00000452001	T;T;T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79;2.79;2.79	4.53	4.53	0.55603	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.279504	0.24465	N	0.038281	T	0.19287	0.0463	M	0.69463	2.115	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.998;0.992;0.999;0.999;1.0;0.999	T	0.00812	-1.1556	10	0.87932	D	0	.	10.2477	0.43352	0.0:0.0:0.0:1.0	.	55;62;62;62;62;62	P31994-3;P31995-4;P31994-2;P31995-2;P31994;P31995-3	.;.;.;.;FCG2B_HUMAN;.	P	62;55;62;62;62;55;62;61	ENSP00000356939:L62P;ENSP00000356937:L55P;ENSP00000386038:L62P;ENSP00000404329:L62P;ENSP00000236937:L62P;ENSP00000356938:L55P;ENSP00000351497:L62P	ENSP00000236937:L62P	L	+	2	0	FCGR2B	159907857	0.197000	0.23362	0.135000	0.22099	0.034000	0.12701	3.841000	0.55850	1.674000	0.50907	0.379000	0.24179	CTC		0.587	FCGR2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083337.4	NM_004001		21	29	0	0	0	0.639603	0	21	29					C	161641233	T	C	161641233	3	2	111	1	0	0	0	0	1	0	0	0	5782	1551	54	3	195	3	FCGR2B	1	161641233	Missense_Mutation	SNP	T	TCGA-DJ-A2Q7-01A-11D-A18F-08	1391258	161641233	87609388	5	2341											
POU2F1	5451	broad.mit.edu	37	chr1	167367336	167367336	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgcaccagcatagagaccaAcatccgtgtggccttagaga	10	12	0	2			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr1:167367336A>G	ENST00000541643.3	+	12	1328	c.1166A>G	c.(1165-1167)aAc>aGc	p.N389S	POU2F1_ENST00000367862.5_Missense_Mutation_p.N401S|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000420254.3_Missense_Mutation_p.N389S|POU2F1_ENST00000367866.2_Missense_Mutation_p.N412S|POU2F1_ENST00000429375.2_Missense_Mutation_p.N349S			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	389					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						ATAGAGACCAACATCCGTGTG	0.468																																						ENST00000367862.5																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						c.(1201-1203)aAc>aGc		POU class 2 homeobox 1							144	138	140					1																	167367336		2203	4300	6503	SO:0001583	missense	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167367336A>G	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"Homeoboxes / POU class"	9212	protein-coding gene	gene with protein product		164175	"POU domain class 2, transcription factor 1"	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.1166A>G	1.37:g.167367336A>G	ENSP00000441285:p.Asn389Ser					POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000541643.3_Missense_Mutation_p.N389S|POU2F1_ENST00000429375.2_Missense_Mutation_p.N349S|POU2F1_ENST00000420254.3_Missense_Mutation_p.N389S|POU2F1_ENST00000367866.2_Missense_Mutation_p.N412S	p.N401S	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN			11	1437	+			389					B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	ENST00000541643.3	37	c.1202A>G		.	.	.	.	.	.	.	.	.	.	A	18.50	3.638046	0.67130	.	.	ENSG00000143190	ENST00000367866;ENST00000429375;ENST00000367865;ENST00000420254;ENST00000541643;ENST00000367862;ENST00000443275	T;T;T;T;T;T;T	0.77750	-1.12;-1.0;-1.12;-1.12;-1.12;-1.12;-1.12	6.0	6.0	0.97389	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.51075	0.1653	N	0.05078	-0.115	0.80722	D	1	P;B;P;P;P	0.52842	0.956;0.004;0.946;0.946;0.956	B;B;B;B;B	0.43754	0.43;0.019;0.304;0.397;0.43	T	0.61898	-0.6968	10	0.35671	T	0.21	.	16.4953	0.84238	1.0:0.0:0.0:0.0	.	349;389;401;387;389	B4E029;P14859-4;P14859-2;P14859-3;P14859	.;.;.;.;PO2F1_HUMAN	S	412;349;387;389;389;401;297	ENSP00000356840:N412S;ENSP00000401217:N349S;ENSP00000356839:N387S;ENSP00000414660:N389S;ENSP00000441285:N389S;ENSP00000356836:N401S;ENSP00000415993:N297S	ENSP00000356836:N401S	N	+	2	0	POU2F1	165633960	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.264000	0.95635	2.287000	0.76781	0.533000	0.62120	AAC		0.468	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		3	69	0	0	0	0.115264	0	3	69					G	167367336	A	G	167367336	3	3	111	1	0	0	0	0	1	0	0	0	12271	43	2	3	1204	3	POU2F1	1	167367336	Missense_Mutation	SNP	A	TCGA-DJ-A2Q7-01A-11D-A18F-08	5726103	167367336	81883285	6	2342											
MOSC1	64757	broad.mit.edu	37	chr1	220971259	220971259	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcttgatcctttctgaggCgtcgctggcggatctcaact	10	11	3	2	rs150590210	byFrequency	TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr1:220971259C>T	ENST00000366910.5	+	4	842	c.656C>T	c.(655-657)gCg>gTg	p.A219V	MARC1_ENST00000496110.1_3'UTR	NM_022746.3	NP_073583.3	Q5VT66	MARC1_HUMAN	mitochondrial amidoxime reducing component 1	219	MOSC. {ECO:0000255|PROSITE- ProRule:PRU00670}.				detoxification of nitrogen compound (GO:0051410)|nitrate metabolic process (GO:0042126)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|nitrate reductase activity (GO:0008940)|pyridoxal phosphate binding (GO:0030170)										CTTTCTGAGGCGTCGCTGGCG	0.438													C|||	2	0.000399361	0.0015	0	5008	,	,		21591	0		0	False		,,,				2504	0					ENST00000366910.5																			0											c.(655-657)gCg>gTg		mitochondrial amidoxime reducing component 1		C	VAL/ALA	0,4406		0,0,2203	120	113	115		656	3.9	0.8	1	dbSNP_134	115	1,8599	1.2+/-3.3	0,1,4299	no	missense	MOSC1	NM_022746.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	219/338	220971259	1,13005	2203	4300	6503	SO:0001583	missense	64757						molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding	g.chr1:220971259C>T	AK026043	CCDS1526.1	1q41	2011-11-02	2011-11-02	2011-11-02	ENSG00000186205	ENSG00000186205			26189	protein-coding gene	gene with protein product		614126	"MOCO sulphurase C-terminal domain containing 1"	MOSC1		11886751	Standard	NM_022746		Approved	FLJ22390	uc001hms.3	Q5VT66	OTTHUMG00000037353	ENST00000366910.5:c.656C>T	1.37:g.220971259C>T	ENSP00000355877:p.Ala219Val					MARC1_ENST00000496110.1_3'UTR	p.A219V	NM_022746.3	NP_073583.3	Q5VT66	MOSC1_HUMAN			4	842	+			219			MOSC.		A8K447|B2D078|Q5VVS9|Q5VVT0|Q5VVT1|Q8N9P5|Q96FN8|Q9H6C7	Missense_Mutation	SNP	ENST00000366910.5	37	c.656C>T	CCDS1526.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.665705	0.47677	0.0	1.16E-4	ENSG00000186205	ENST00000366910;ENST00000443880	T;T	0.23754	1.89;1.89	4.82	3.9	0.45041	Pyruvate kinase-like, insert domain (1);Molybdenum cofactor sulfurase, C-terminal (2);	0.000000	0.64402	D	0.000004	T	0.57213	0.2038	M	0.91406	3.205	0.58432	D	0.999992	D;D	0.89917	1.0;0.997	D;D	0.72338	0.977;0.929	T	0.67558	-0.5640	10	0.87932	D	0	-2.6326	12.8451	0.57825	0.0:0.9199:0.0:0.0801	.	219;219	Q5VT66-2;Q5VT66	.;MOSC1_HUMAN	V	219;32	ENSP00000355877:A219V;ENSP00000409634:A32V	ENSP00000355877:A219V	A	+	2	0	MOSC1	219037882	0.992000	0.36948	0.805000	0.32314	0.008000	0.06430	3.168000	0.50801	1.148000	0.42385	0.563000	0.77884	GCG		0.438	MARC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090904.1	NM_022746		4	76	0	0	0	0.150653	0	4	76					T	220971259	C	T	220971259	3	4	111	1	0	0	0	0	1	0	0	0	9713	768	27	1	670	1	MOSC1	1	220971259	Missense_Mutation	SNP	C	TCGA-DJ-A2Q7-01A-11D-A18F-08	53603923	220971259	28279362	7	2343											
RYK	6259	broad.mit.edu	37	chr3	133928660	133928661	+	Frame_Shift_Del	DEL	CT	CT	-													actttgccagtacaggaaagCtctacccgaaacactgttta							TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr3:133928660_133928661delCT	ENST00000296084.4	-	5	460_461	c.461_462delAG	c.(460-462)gagfs	p.E154fs	RYK_ENST00000427044.2_5'UTR	NM_001005861.2|NM_002958.3	NP_001005861.1|NP_002949.2	P34925	RYK_HUMAN	receptor-like tyrosine kinase	153	WIF. {ECO:0000255|PROSITE- ProRule:PRU00222}.				axon guidance (GO:0007411)|corpus callosum development (GO:0022038)|neuron differentiation (GO:0030182)|neuron projection development (GO:0031175)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of MAPK cascade (GO:0043410)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			lung(1)|ovary(3)	4						TACAGGAAAGCTCTACCCGAAA	0.272																																						ENST00000296084.4																			0				lung(1)|ovary(3)	4						c.(460-462)gfs		receptor-like tyrosine kinase																																				SO:0001589	frameshift_variant	6259				corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr3:133928660_133928661delCT	S59184	CCDS75016.1	3q22.1	2012-02-28	2012-02-28		ENSG00000163785	ENSG00000163785	2.7.10.1		10481	protein-coding gene	gene with protein product		600524	"JTK5A protein tyrosine kinase", "RYK receptor-like tyrosine kinase"	JTK5A		8386829	Standard	NM_001005861		Approved	D3S3195, RYK1, JTK5	uc003eqc.1	P34925	OTTHUMG00000159750	ENST00000296084.4:c.461_462delAG	3.37:g.133928662_133928663delCT	ENSP00000296084:p.Glu154fs					RYK_ENST00000427044.2_5'UTR	p.E154fs	NM_001005861.2|NM_002958.3	NP_001005861.1|NP_002949.2	P34925	RYK_HUMAN			5	460_461	-			153			WIF.		Q04696	Frame_Shift_Del	DEL	ENST00000296084.4	37	c.461_462delAG																																																																																					0.272	RYK-201	KNOWN	basic	protein_coding	protein_coding		NM_001005861		2	4						2	4	---	---	---	---	-	133928661	CT	-	133928660	7	5	111	1	0	1	0	1	0	0	0	0	13767	796	28	0	1412	0	RYK	3	133928660	Frame_Shift_Del	DEL	CT	TCGA-DJ-A2Q7-01A-11D-A18F-08		133928660	64093770	8	2344											
DGKG	1608	broad.mit.edu	37	chr3	186006581	186006581	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtataccactggggattcCgagcttgaagaccgagggac	14	9	0	2			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr3:186006581C>T	ENST00000265022.3	-	6	1001	c.462G>A	c.(460-462)tcG>tcA	p.S154S	DGKG_ENST00000344484.4_Silent_p.S154S|DGKG_ENST00000544847.1_Silent_p.S154S|DGKG_ENST00000382164.4_Silent_p.S154S	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	154	Poly-Ser.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.S154S(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CTGGGGATTCCGAGCTTGAAG	0.567																																						ENST00000265022.3																			1	Substitution - coding silent(1)	p.S154S(1)	upper_aerodigestive_tract(1)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42						c.(460-462)tcG>tcA		diacylglycerol kinase, gamma 90kDa	Phosphatidylserine(DB00144)						136	148	144					3																	186006581		2203	4300	6503	SO:0001819	synonymous_variant	1608				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr3:186006581C>T	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"EF-hand domain containing"	2853	protein-coding gene	gene with protein product		601854	"diacylglycerol kinase, gamma (90kD)"	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.462G>A	3.37:g.186006581C>T						DGKG_ENST00000382164.4_Silent_p.S154S|DGKG_ENST00000344484.4_Silent_p.S154S|DGKG_ENST00000544847.1_Silent_p.S154S	p.S154S	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	6	1001	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		154			Poly-Ser.		B2RAH4|Q2M1H4|Q5FWG1	Silent	SNP	ENST00000265022.3	37	c.462G>A	CCDS3274.1																																																																																				0.567	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			4	266	0	0	0	0.184627	0	4	266					T	186006581	C	T	186006581	2	4	111	1	0	0	0	0	0	0	0	1	4469	639	23	1		1	DGKG	3	186006581	Silent	SNP	C	TCGA-DJ-A2Q7-01A-11D-A18F-08	52077921	186006581	12015849	9	2345											
SHROOM3	57619	broad.mit.edu	37	chr4	77660025	77660025	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcccagtggggcatacccAccctgtcatctttcccctgc	9	17	2	0			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr4:77660025A>C	ENST00000296043.6	+	5	1652	c.699A>C	c.(697-699)ccA>ccC	p.P233P	SHROOM3_ENST00000473602.1_3'UTR	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	233					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGGCATACCCACCCTGTCATC	0.572																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(697-699)ccA>ccC		shroom family member 3							79	80	80					4																	77660025		2203	4300	6503	SO:0001819	synonymous_variant	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77660025A>C	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.699A>C	4.37:g.77660025A>C						SHROOM3_ENST00000473602.1_3'UTR	p.P233P	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	1652	+			233					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	ENST00000296043.6	37	c.699A>C	CCDS3579.2																																																																																				0.572	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		5	84	0	0	0	0.27861	0	5	84					C	77660025	A	C	77660025	2	2	111	1	0	0	0	0	0	0	0	1	14295	146	6	5		5	SHROOM3	4	77660025	Silent	SNP	A	TCGA-DJ-A2Q7-01A-11D-A18F-08		77660025	113494251	10	2346											
MAP1B	4131	broad.mit.edu	37	chr5	71495163	71495163	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagcaatggctatgatgactCtgaggatggtggccacacac	12	10	1	3			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr5:71495163C>T	ENST00000296755.7	+	5	6279	c.5981C>T	c.(5980-5982)tCt>tTt	p.S1994F		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1994					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TATGATGACTCTGAGGATGGT	0.483																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(5980-5982)tCt>tTt		microtubule-associated protein 1B							135	142	140					5																	71495163		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71495163C>T	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5981C>T	5.37:g.71495163C>T	ENSP00000296755:p.Ser1994Phe						p.S1994F	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	6279	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1994					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.5981C>T	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034812	0.35893	.	.	ENSG00000131711	ENST00000296755	T	0.03468	3.92	5.51	5.51	0.81932	.	0.641591	0.15393	N	0.264685	T	0.03348	0.0097	N	0.08118	0	0.30366	N	0.783313	B;B	0.25169	0.119;0.119	B;B	0.32465	0.146;0.043	T	0.33752	-0.9856	10	0.40728	T	0.16	-7.2639	13.7476	0.62885	0.0:0.9239:0.0:0.0761	.	1868;1994	A2BDK6;P46821	.;MAP1B_HUMAN	F	1994	ENSP00000296755:S1994F	ENSP00000296755:S1994F	S	+	2	0	MAP1B	71530919	0.044000	0.20184	0.988000	0.46212	0.999000	0.98932	2.451000	0.44952	2.601000	0.87937	0.643000	0.83706	TCT		0.483	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		8	228	0	0	0	0.335167	0	8	228					T	71495163	C	T	71495163	3	4	111	1	0	0	0	0	1	0	0	0	9228	913	32	2	5999	2	MAP1B	5	71495163	Missense_Mutation	SNP	C	TCGA-DJ-A2Q7-01A-11D-A18F-08		71495163	109420097	11	2347											
MEF2C	4208	broad.mit.edu	37	chr5	88047813	88047813	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tacaccaaactgttgtggctGgacactgggatggagactgg	14	8	0	1			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr5:88047813G>C	ENST00000437473.2	-	5	867	c.450C>G	c.(448-450)tcC>tcG	p.S150S	MEF2C_ENST00000539796.1_Silent_p.S102S|MEF2C_ENST00000504921.2_Silent_p.S150S|MEF2C_ENST00000340208.5_Silent_p.S168S|MEF2C_ENST00000424173.2_Silent_p.S148S|MEF2C_ENST00000510942.1_Silent_p.S150S|MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000508569.1_Silent_p.S150S|MEF2C_ENST00000514028.1_Silent_p.S150S|MEF2C_ENST00000514015.1_Silent_p.S150S|MEF2C_ENST00000506554.1_Silent_p.S150S	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	150	Ser-rich.				apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|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)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|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 positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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)			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TGTTGTGGCTGGACACTGGGA	0.478										HNSCC(66;0.2)																												ENST00000504921.2																			0				breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40						c.(448-450)tcC>tcG		myocyte enhancer factor 2C							140	142	141					5																	88047813		1952	4164	6116	SO:0001819	synonymous_variant	4208				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:88047813G>C	AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"Myocyte enhancer factors"	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.450C>G	5.37:g.88047813G>C		HNSCC(66;0.2)				MEF2C_ENST00000510942.1_Silent_p.S150S|MEF2C_ENST00000437473.2_Silent_p.S150S|MEF2C_ENST00000508569.1_Silent_p.S150S|MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000506554.1_Silent_p.S150S|MEF2C_ENST00000340208.5_Silent_p.S168S|MEF2C_ENST00000539796.1_Silent_p.S102S|MEF2C_ENST00000514028.1_Silent_p.S150S|MEF2C_ENST00000514015.1_Silent_p.S150S|MEF2C_ENST00000424173.2_Silent_p.S148S	p.S150S			Q06413	MEF2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)	5	1122	-		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)	150			Ser-rich.		C9JMZ0|D7F7N5|F8W7V7	Silent	SNP	ENST00000437473.2	37	c.450C>G	CCDS47245.1																																																																																				0.478	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397		32	70	0	0	0	0.760397	0	32	70					C	88047813	G	C	88047813	2	2	111	1	0	0	0	0	0	0	0	1	9457	1335	47	4		4	MEF2C	5	88047813	Silent	SNP	G	TCGA-DJ-A2Q7-01A-11D-A18F-08	16552650	88047813	92867447	12	2348											
PCDHGA10	56106	broad.mit.edu	37	chr5	140795090	140795090	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccaattatgcggacacgcTcatcagccaggagagctgtg	12	12	2	1			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr5:140795090T>C	ENST00000398610.2	+	1	2348	c.2348T>C	c.(2347-2349)cTc>cCc	p.L783P	PCDHGB7_ENST00000398594.2_5'Flank|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	783					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGACACGCTCATCAGCCAG	0.498																																						ENST00000398610.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2347-2349)cTc>cCc									95	103	100					5																	140795090		2203	4300	6503	SO:0001583	missense	0							g.chr5:140795090T>C		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"Cadherins / Protocadherins : Clustered"	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.2348T>C	5.37:g.140795090T>C	ENSP00000381611:p.Leu783Pro					PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.L783P	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2348	+								Q9Y5E0	Missense_Mutation	SNP	ENST00000398610.2	37	c.2348T>C	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	t	19.77	3.889914	0.72524	.	.	ENSG00000253846	ENST00000398610	T	0.52983	0.64	5.42	5.42	0.78866	.	.	.	.	.	T	0.73853	0.3640	M	0.90198	3.095	0.51482	D	0.999924	D;D	0.76494	0.987;0.999	P;D	0.72338	0.883;0.977	T	0.79752	-0.1671	9	0.59425	D	0.04	.	15.4779	0.75501	0.0:0.0:0.0:1.0	.	783;783	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	P	783	ENSP00000381611:L783P	ENSP00000381611:L783P	L	+	2	0	PCDHGA10	140775274	0.004000	0.15560	0.999000	0.59377	0.605000	0.37080	0.858000	0.27845	2.063000	0.61619	0.533000	0.62120	CTC		0.498	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		3	171	0	0	0	0.115264	0	3	171					C	140795090	T	C	140795090	3	2	111	1	0	0	0	0	1	0	0	0	11551	1551	54	3	2350	3	PCDHGA10	5	140795090	Missense_Mutation	SNP	T	TCGA-DJ-A2Q7-01A-11D-A18F-08	52747277	140795090	40120170	13	2349											
TNXB	7148	broad.mit.edu	37	chr6	32015637	32015637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctggttggctgccaccgGcaccacctggagccgaccat	12	17	0	0			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr6:32015637G>A	ENST00000375244.3	-	30	10399	c.10198C>T	c.(10198-10200)Ccg>Tcg	p.P3400S	TNXB_ENST00000375247.2_Missense_Mutation_p.P3398S|TNXB_ENST00000451343.1_5'Flank			P22105	TENX_HUMAN	tenascin XB	3445	Fibronectin type-III 25. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.P3465S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCTGCCACCGGCACCACCTGG	0.617																																						ENST00000375244.3																			1	Substitution - Missense(1)	p.P3465S(1)	large_intestine(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(10198-10200)Ccg>Tcg		tenascin XB							29	37	34					6																	32015637		1437	2647	4084	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32015637G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.10198C>T	6.37:g.32015637G>A	ENSP00000364393:p.Pro3400Ser					TNXB_ENST00000375247.2_Missense_Mutation_p.P3398S	p.P3400S			P22105	TENX_HUMAN			30	10399	-			3445			Fibronectin type-III 26.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.10198C>T		.	.	.	.	.	.	.	.	.	.	G	8.195	0.796763	0.16327	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.53857	0.6;0.6	4.76	1.98	0.26296	.	0.137947	0.33753	N	0.004594	T	0.27241	0.0668	L	0.47190	1.495	0.09310	N	1	P	0.39748	0.686	P	0.50136	0.632	T	0.29150	-1.0021	10	0.09590	T	0.72	.	4.9993	0.14257	0.1793:0.0:0.6531:0.1676	.	3398	P22105-3	.	S	3400;3398	ENSP00000364393:P3400S;ENSP00000364396:P3398S	ENSP00000364393:P3400S	P	-	1	0	TNXB	32123615	0.999000	0.42202	0.073000	0.20177	0.001000	0.01503	3.696000	0.54757	0.221000	0.20879	-0.229000	0.12294	CCG		0.617	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		3	32	0	0	0	0.115264	0	3	32					A	32015637	G	A	32015637	3	1	111	1	0	0	0	0	1	0	0	0	16343	1203	42	2	4581	2	TNXB	6	32015637	Missense_Mutation	SNP	G	TCGA-DJ-A2Q7-01A-11D-A18F-08		32015637	139099430	14	2350											
FUT9	10690	broad.mit.edu	37	chr6	96651640	96651640	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaccctgagcatgccagagtCaagtattacaatgagctaag	9	9	1	3			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr6:96651640C>G	ENST00000302103.5	+	3	935	c.609C>G	c.(607-609)gtC>gtG	p.V203V		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	203					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		ATGCCAGAGTCAAGTATTACA	0.408																																					Melanoma(98;1369 1476 6592 22940 26587)	ENST00000302103.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34						c.(607-609)gtC>gtG		fucosyltransferase 9 (alpha (1,3) fucosyltransferase)							68	64	66					6																	96651640		2203	4300	6503	SO:0001819	synonymous_variant	10690				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr6:96651640C>G	AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"Fucosyltransferases"	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.609C>G	6.37:g.96651640C>G							p.V203V	NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.08)	3	935	+		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)	203					Q5T0W4	Silent	SNP	ENST00000302103.5	37	c.609C>G	CCDS5033.1																																																																																				0.408	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041554.2	NM_006581		15	30	0	0	0	0.457914	0	15	30					G	96651640	C	G	96651640	2	3	111	1	0	0	0	0	0	0	0	1	6111	813	29	4		4	FUT9	6	96651640	Silent	SNP	C	TCGA-DJ-A2Q7-01A-11D-A18F-08	64636003	96651640	74463427	15	2351											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		27	49	0	0	0	0.706142	0	27	49					T	140453136	A	T	140453136	3	4	111	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2Q7-01A-11D-A18F-08		140453136	18685527	16	2352											
PRSS55	203074	broad.mit.edu	37	chr8	10387105	10387105	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggtgggtgagtttccgtgGcaggtgagtattcaggcaag	18	5	1	2			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr8:10387105G>T	ENST00000328655.3	+	2	283	c.243G>T	c.(241-243)tgG>tgT	p.W81C	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.W81C	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	81	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						AGTTTCCGTGGCAGGTGAGTA	0.522																																						ENST00000328655.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						c.(241-243)tgG>tgT		protease, serine, 55							258	250	252					8																	10387105		2203	4300	6503	SO:0001583	missense	203074				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr8:10387105G>T	AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"Serine peptidases / Serine peptidases"	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.243G>T	8.37:g.10387105G>T	ENSP00000333003:p.Trp81Cys					PRSS55_ENST00000522210.1_Missense_Mutation_p.W81C|PRSS51_ENST00000523024.1_RNA	p.W81C	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN			2	283	+			81			Peptidase S1.		E5RJX5	Missense_Mutation	SNP	ENST00000328655.3	37	c.243G>T	CCDS5976.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.455427	0.63401	.	.	ENSG00000184647	ENST00000328655;ENST00000522210	D;D	0.96073	-3.9;-3.9	4.05	4.05	0.47172	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.98178	0.9398	H	0.95260	3.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98321	1.0528	9	0.87932	D	0	.	12.0043	0.53251	0.0:0.0:1.0:0.0	.	81	Q6UWB4	PRS55_HUMAN	C	81	ENSP00000333003:W81C;ENSP00000430459:W81C	ENSP00000333003:W81C	W	+	3	0	PRSS55	10424515	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.623000	0.74238	2.527000	0.85204	0.561000	0.74099	TGG		0.522	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464		6	315	1	0	0.00448238	0.307466	0.00503124	6	315					T	10387105	G	T	10387105	3	4	111	1	0	0	0	0	1	0	0	0	12634	1212	42	4	249	4	PRSS55	8	10387105	Missense_Mutation	SNP	G	TCGA-DJ-A2Q7-01A-11D-A18F-08		10387105	135976917	17	2353											
ST18	9705	broad.mit.edu	37	chr8	53092728	53092728	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggggccatcgtcctctgtCctgtcactgcggtcttcttg	11	13	4	0			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr8:53092728C>T	ENST00000276480.7	-	9	914	c.231G>A	c.(229-231)agG>agA	p.R77R		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	77					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CGTCCTCTGTCCTGTCACTGC	0.542																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(229-231)agG>agA		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							330	264	286					8																	53092728		2203	4300	6503	SO:0001819	synonymous_variant	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53092728C>T	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.231G>A	8.37:g.53092728C>T							p.R77R	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			9	914	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	77					Q17RY1	Silent	SNP	ENST00000276480.7	37	c.231G>A	CCDS6149.1																																																																																				0.542	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			36	175	0	0	0	0.819951	0	36	175					T	53092728	C	T	53092728	2	4	111	1	0	0	0	0	0	0	0	1	15211	854	30	2		2	ST18	8	53092728	Silent	SNP	C	TCGA-DJ-A2Q7-01A-11D-A18F-08	42705623	53092728	93271294	18	2354											
ZBTB26	57684	broad.mit.edu	37	chr9	125681791	125681791	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactggggagaagcactctgTggttcacatccctctttact	10	11	3	1			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr9:125681791T>C	ENST00000373656.3	-	2	496	c.423A>G	c.(421-423)ccA>ccG	p.P141P	ZBTB26_ENST00000373654.1_Silent_p.P141P	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	141					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						AAGCACTCTGTGGTTCACATC	0.468																																						ENST00000373656.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						c.(421-423)ccA>ccG		zinc finger and BTB domain containing 26							149	132	137					9																	125681791		2203	4300	6503	SO:0001819	synonymous_variant	57684				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:125681791T>C	AB046792	CCDS6847.1	9q34.11	2013-01-08	2004-04-15	2004-04-16	ENSG00000171448	ENSG00000171448		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	23383	protein-coding gene	gene with protein product			"zinc finger protein 481"	ZNF481			Standard	NM_020924		Approved		uc004bnk.3	Q9HCK0	OTTHUMG00000020627	ENST00000373656.3:c.423A>G	9.37:g.125681791T>C						ZBTB26_ENST00000373654.1_Silent_p.P141P	p.P141P	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN			2	496	-			141					B3KQ53|Q8WTR1	Silent	SNP	ENST00000373656.3	37	c.423A>G	CCDS6847.1																																																																																				0.468	ZBTB26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053960.1	NM_020924		16	83	0	0	0	0.479597	0	16	83					C	125681791	T	C	125681791	2	2	111	1	0	0	0	0	0	0	0	1	17530	1683	59	3		3	ZBTB26	9	125681791	Silent	SNP	T	TCGA-DJ-A2Q7-01A-11D-A18F-08		125681791	15531640	19	2355											
NCOA4	8031	broad.mit.edu	37	chr10	51579175	51579175	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaccagagtggcagctccAgtaatagagaaccccttttg	10	10	0	3			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr10:51579175A>C	ENST00000443446.1	+	2	263	c.34A>C	c.(34-36)Agt>Cgt	p.S12R	NCOA4_ENST00000430396.2_Intron|NCOA4_ENST00000414907.2_Intron|NCOA4_ENST00000438493.1_Missense_Mutation_p.S28R|NCOA4_ENST00000374082.1_Missense_Mutation_p.S12R|NCOA4_ENST00000374087.4_Missense_Mutation_p.S12R|NCOA4_ENST00000498586.1_Intron|NCOA4_ENST00000452682.1_Missense_Mutation_p.S28R|NCOA4_ENST00000344348.6_Missense_Mutation_p.S12R	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	12					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						TGGCAGCTCCAGTAATAGAGA	0.408			T	RET	papillary thyroid																																	ENST00000452682.1				Dom	yes		10	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)			E	RET		papillary thyroid		0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						c.(82-84)Agt>Cgt		nuclear receptor coactivator 4							48	55	53					10																	51579175		2203	4300	6503	SO:0001583	missense	8031				androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	g.chr10:51579175A>C	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"RET-activating gene ELE1"	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.34A>C	10.37:g.51579175A>C	ENSP00000390713:p.Ser12Arg					NCOA4_ENST00000374082.1_Missense_Mutation_p.S12R|NCOA4_ENST00000374087.4_Missense_Mutation_p.S12R|NCOA4_ENST00000498586.1_Intron|NCOA4_ENST00000430396.2_Intron|NCOA4_ENST00000414907.2_Intron|NCOA4_ENST00000344348.6_Missense_Mutation_p.S12R|NCOA4_ENST00000443446.1_Missense_Mutation_p.S12R|NCOA4_ENST00000438493.1_Missense_Mutation_p.S28R	p.S28R	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN			3	334	+			12					A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	ENST00000443446.1	37	c.82A>C	CCDS7237.1	.	.	.	.	.	.	.	.	.	.	A	19.95	3.921905	0.73213	.	.	ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000374087;ENST00000330923;ENST00000344348;ENST00000374082;ENST00000443446	T;T;T;T;T;T	0.21191	2.36;2.34;2.34;2.34;2.02;2.34	5.79	5.79	0.91817	.	0.460516	0.24321	N	0.039555	T	0.23806	0.0576	L	0.32530	0.975	0.80722	D	1	P;D;P	0.53619	0.931;0.961;0.808	P;P;P	0.49752	0.621;0.621;0.467	T	0.01262	-1.1402	10	0.66056	D	0.02	-18.2451	11.0233	0.47730	0.8279:0.0:0.0:0.1721	.	28;28;12	B4E260;E9PAV7;Q13772	.;.;NCOA4_HUMAN	R	28;28;12;12;12;12;12	ENSP00000405146:S28R;ENSP00000395465:S28R;ENSP00000363200:S12R;ENSP00000344552:S12R;ENSP00000363195:S12R;ENSP00000390713:S12R	ENSP00000332421:S12R	S	+	1	0	NCOA4	51249181	0.809000	0.29036	0.998000	0.56505	0.989000	0.77384	0.888000	0.28268	2.212000	0.71576	0.533000	0.62120	AGT		0.408	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		8	65	0	0	0	0.38729	0	8	65					C	51579175	A	C	51579175	3	2	111	1	0	0	0	0	1	0	0	0	10231	188	7	5	88	5	NCOA4	10	51579175	Missense_Mutation	SNP	A	TCGA-DJ-A2Q7-01A-11D-A18F-08		51579175	83955572	20	2356											
DNHD1	144132	broad.mit.edu	37	chr11	6592281	6592281	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagcagctgaagggcgcAcccccgtgcccctcccgccg	12	19	0	1			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr11:6592281A>C	ENST00000527990.2	+	40	13539	c.13539A>C	c.(13537-13539)gcA>gcC	p.A4513A	DNHD1_ENST00000254579.6_Silent_p.A4513A			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4513					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGAAGGGCGCACCCCCGTGCC	0.677																																						ENST00000254579.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(13537-13539)gcA>gcC		dynein heavy chain domain 1							27	33	31					11																	6592281		2049	4188	6237	SO:0001819	synonymous_variant	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6592281A>C	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.13539A>C	11.37:g.6592281A>C						DNHD1_ENST00000527990.2_Silent_p.A4513A	p.A4513A	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	42	14103	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	4513					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Silent	SNP	ENST00000527990.2	37	c.13539A>C	CCDS44532.1																																																																																				0.677	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		5	32	0	0	0	0.539581	0	5	32					C	6592281	A	C	6592281	2	2	111	1	0	0	0	0	0	0	0	1	4668	146	6	5		5	DNHD1	11	6592281	Silent	SNP	A	TCGA-DJ-A2Q7-01A-11D-A18F-08		6592281	128414235	21	2357											
OR8K5	219453	broad.mit.edu	37	chr11	55927551	55927551	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacaacaaaatttgccagCaccttgggacaaatgacagt	7	11	0	1			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr11:55927551C>T	ENST00000313447.1	-	1	242	c.243G>A	c.(241-243)gtG>gtA	p.V81V		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				AATTTGCCAGCACCTTGGGAC	0.383																																						ENST00000313447.1																			0				large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(241-243)gtG>gtA		olfactory receptor, family 8, subfamily K, member 5							102	102	102					11																	55927551		2201	4296	6497	SO:0001819	synonymous_variant	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55927551C>T	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"GPCR / Class A : Olfactory receptors"	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.243G>A	11.37:g.55927551C>T							p.V81V	NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN			1	242	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	81					Q6IFB5	Silent	SNP	ENST00000313447.1	37	c.243G>A	CCDS31521.1																																																																																				0.383	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		5	70	0	0	0	0.217242	0	5	70					T	55927551	C	T	55927551	2	4	111	1	0	0	0	0	0	0	0	1	11245	697	25	2		2	OR8K5	11	55927551	Silent	SNP	C	TCGA-DJ-A2Q7-01A-11D-A18F-08	49335270	55927551	79078965	22	2358											
RBM14	10432	broad.mit.edu	37	chr11	66392698	66392698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagccagcagcctacgccGcacaagccactaccccaatg	8	19	0	0			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr11:66392698G>A	ENST00000310137.4	+	2	1490	c.1351G>A	c.(1351-1353)Gca>Aca	p.A451T	RBM14_ENST00000393979.3_Intron|RBM14_ENST00000409738.4_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron|RBM14-RBM4_ENST00000511114.1_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	451	Ala-rich.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						AGCCTACGCCGCACAAGCCAC	0.617																																						ENST00000310137.4																		RBM14/PACS1(2)	0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1351-1353)Gca>Aca		RNA binding motif protein 14							67	73	71					11																	66392698		2191	4273	6464	SO:0001583	missense	10432				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity	g.chr11:66392698G>A	AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"RNA binding motif (RRM) containing"	14219	protein-coding gene	gene with protein product	"coactivator activator", "SYT interacting protein"	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.1351G>A	11.37:g.66392698G>A	ENSP00000311747:p.Ala451Thr					RBM14_ENST00000393979.3_Intron|RBM4_ENST00000514361.3_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM14_ENST00000409738.4_Intron	p.A451T	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN			2	1490	+			451			Ala-rich.		B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Missense_Mutation	SNP	ENST00000310137.4	37	c.1351G>A	CCDS8147.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503682	0.44558	.	.	ENSG00000239306	ENST00000310137	D	0.83250	-1.7	5.75	5.75	0.90469	.	0.113754	0.64402	D	0.000012	D	0.84906	0.5576	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	D	0.86495	0.1800	10	0.72032	D	0.01	-2.6928	15.4418	0.75190	0.0:0.0:1.0:0.0	.	451	Q96PK6	RBM14_HUMAN	T	451	ENSP00000311747:A451T	ENSP00000311747:A451T	A	+	1	0	RBM14	66149274	0.999000	0.42202	1.000000	0.80357	0.950000	0.60333	3.650000	0.54424	2.720000	0.93068	0.655000	0.94253	GCA		0.617	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277128.1	NM_006328		5	142	0	0	0	0.184627	0	5	142					A	66392698	G	A	66392698	3	1	111	1	0	0	0	0	1	0	0	0	13115	1087	38	1	1357	1	RBM14	11	66392698	Missense_Mutation	SNP	G	TCGA-DJ-A2Q7-01A-11D-A18F-08	10465147	66392698	68613818	23	2359											
PIWIL1	9271	broad.mit.edu	37	chr12	130847544	130847544	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgtttcagcggctctgAgggcttggaatagctgcaat	14	9	2	1			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr12:130847544A>G	ENST00000245255.3	+	18	2322	c.2050A>G	c.(2050-2052)Agg>Ggg	p.R684G		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	684	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				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)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		AGCGGCTCTGAGGGCTTGGAA	0.507																																						ENST00000245255.3																			0				breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57						c.(2050-2052)Agg>Ggg		piwi-like RNA-mediated gene silencing 1							100	101	100					12																	130847544		2203	4300	6503	SO:0001583	missense	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130847544A>G	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"Argonaute/PIWI family"	9007	protein-coding gene	gene with protein product		605571	"piwi (Drosophila)-like 1", "piwi-like 1 (Drosophila)"			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.2050A>G	12.37:g.130847544A>G	ENSP00000245255:p.Arg684Gly						p.R684G	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	18	2322	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		684			Piwi.		A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.2050A>G	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	A	14.23	2.473898	0.43942	.	.	ENSG00000125207	ENST00000245255	T	0.32988	1.43	5.49	-4.43	0.03568	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.106561	0.64402	D	0.000003	T	0.31979	0.0814	L	0.61036	1.89	0.44085	D	0.996841	P;P	0.36086	0.536;0.486	B;B	0.36922	0.229;0.236	T	0.42327	-0.9458	10	0.51188	T	0.08	-15.8911	20.4835	0.99199	0.2175:0.7825:0.0:0.0	.	684;684	Q96J94;Q96J94-2	PIWL1_HUMAN;.	G	684	ENSP00000245255:R684G	ENSP00000245255:R684G	R	+	1	2	PIWIL1	129413497	1.000000	0.71417	0.891000	0.34965	0.833000	0.47200	2.081000	0.41596	-0.611000	0.05709	-0.644000	0.03951	AGG		0.507	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			3	95	0	0	0	0.115264	0	3	95					G	130847544	A	G	130847544	3	3	111	1	0	0	0	0	1	0	0	0	11957	295	11	3	2116	3	PIWIL1	12	130847544	Missense_Mutation	SNP	A	TCGA-DJ-A2Q7-01A-11D-A18F-08		130847544	3004351	24	2360											
OR4N5	390437	broad.mit.edu	37	chr14	20612492	20612492	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtggtggagcttctgatgGtctccaacagtggcctgctc	13	10	2	1	rs147549956		TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr14:20612492G>T	ENST00000333629.1	+	1	598	c.598G>T	c.(598-600)Gtc>Ttc	p.V200F	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		GCTTCTGATGGTCTCCAACAG	0.537																																						ENST00000333629.1																			0				endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29						c.(598-600)Gtc>Ttc		olfactory receptor, family 4, subfamily N, member 5							101	82	89					14																	20612492		2203	4300	6503	SO:0001583	missense	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612492G>T		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"GPCR / Class A : Olfactory receptors"	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.598G>T	14.37:g.20612492G>T	ENSP00000332110:p.Val200Phe						p.V200F	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	598	+	all_cancers(95;0.00108)		200					Q6IF11	Missense_Mutation	SNP	ENST00000333629.1	37	c.598G>T	CCDS32031.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.933352	0.34096	.	.	ENSG00000184394	ENST00000333629	T	0.00076	8.76	3.88	1.85	0.25348	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39615	N	0.001315	T	0.00144	0.0004	N	0.11364	0.135	0.30924	N	0.72769	D	0.63046	0.992	D	0.66351	0.943	T	0.59747	-0.7396	10	0.87932	D	0	.	4.4473	0.11604	0.1155:0.0:0.5608:0.3236	.	200	Q8IXE1	OR4N5_HUMAN	F	200	ENSP00000332110:V200F	ENSP00000332110:V200F	V	+	1	0	OR4N5	19682332	0.000000	0.05858	1.000000	0.80357	0.981000	0.71138	-0.816000	0.04477	0.967000	0.38186	0.655000	0.94253	GTC		0.537	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			7	96	1	0	0.000274275	0.307466	0.000314274	7	96					T	20612492	G	T	20612492	3	4	111	1	0	0	0	0	1	0	0	0	11079	1261	44	4	600	4	OR4N5	14	20612492	Missense_Mutation	SNP	G	TCGA-DJ-A2Q7-01A-11D-A18F-08		20612492	86737048	25	2361											
FAM86A	196483	broad.mit.edu	37	chr16	5135699	5135699	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaacagtttctgctcatgAcgaggttccacttcccatct	8	12	3	1			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr16:5135699A>G	ENST00000427587.4	-	8	995	c.927T>C	c.(925-927)cgT>cgC	p.R309R	FAM86A_ENST00000587133.1_Silent_p.R248R|ALG1_ENST00000592661.1_Intron|FAM86A_ENST00000458008.4_Silent_p.R275R	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	309						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						TCTGCTCATGACGAGGTTCCA	0.527																																						ENST00000427587.4																			0				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						c.(925-927)cgT>cgC		family with sequence similarity 86, member A							145	132	136					16																	5135699		2197	4300	6497	SO:0001819	synonymous_variant	196483							g.chr16:5135699A>G	BC010084	CCDS10529.1, CCDS10530.1, CCDS73823.1	16p13.3	2012-11-07			ENSG00000118894	ENSG00000118894			32221	protein-coding gene	gene with protein product		615263					Standard	NM_201400		Approved	SB153, MGC19636	uc002cyo.2	Q96G04	OTTHUMG00000129527	ENST00000427587.4:c.927T>C	16.37:g.5135699A>G						ALG1_ENST00000592661.1_Intron|FAM86A_ENST00000587133.1_Silent_p.R248R|FAM86A_ENST00000458008.4_Silent_p.R275R	p.R309R	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN			8	995	-			309					D3DUF0|Q96S85	Silent	SNP	ENST00000427587.4	37	c.927T>C	CCDS10529.1																																																																																				0.527	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251713.1	NM_201400		3	142	0	0	0	0.150653	0	3	142					G	5135699	A	G	5135699	2	3	111	1	0	0	0	0	0	0	0	1	5643	262	10	3		3	FAM86A	16	5135699	Silent	SNP	A	TCGA-DJ-A2Q7-01A-11D-A18F-08		5135699	85219054	26	2362											
ZFHX3	463	broad.mit.edu	37	chr16	72984519	72984519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctccactcgttggccttgCcgccctccttgatgtgggcc	11	17	0	1			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr16:72984519C>T	ENST00000268489.5	-	3	3737	c.3065G>A	c.(3064-3066)gGc>gAc	p.G1022D	ZFHX3_ENST00000397992.5_Missense_Mutation_p.G108D	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1022					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)				GTTGGCCTTGCCGCCCTCCTT	0.592																																						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.(3064-3066)gGc>gAc		zinc finger homeobox 3							165	124	138					16																	72984519		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.chr16:72984519C>T	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.3065G>A	16.37:g.72984519C>T	ENSP00000268489:p.Gly1022Asp					ZFHX3_ENST00000397992.5_Missense_Mutation_p.G108D	p.G1022D	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			3	3737	-		Ovarian(137;0.13)	1022					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.3065G>A	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983725	0.74474	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.56275	0.47;0.47	5.21	5.21	0.72293	.	0.000000	0.51477	D	0.000100	T	0.62245	0.2412	N	0.21545	0.675	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.67730	-0.5595	10	0.87932	D	0	.	18.7673	0.91878	0.0:1.0:0.0:0.0	.	1022	Q15911	ZFHX3_HUMAN	D	1022;108	ENSP00000268489:G1022D;ENSP00000438926:G108D	ENSP00000268489:G1022D	G	-	2	0	ZFHX3	71542020	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.436000	0.80404	2.415000	0.81967	0.650000	0.86243	GGC		0.592	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		3	47	0	0	0	0.115264	0	3	47					T	72984519	C	T	72984519	3	4	111	1	0	0	0	0	1	0	0	0	17631	739	26	2	8078	2	ZFHX3	16	72984519	Missense_Mutation	SNP	C	TCGA-DJ-A2Q7-01A-11D-A18F-08	67848820	72984519	17370234	27	2363											
OR3A3	8392	broad.mit.edu	37	chr17	3324352	3324352	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcttgtgccttcaccaAcgcactgacccacactgtgg	10	15	1	1			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr17:3324352A>G	ENST00000291231.1	+	1	491	c.491A>G	c.(490-492)aAc>aGc	p.N164S		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	164					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						GCCTTCACCAACGCACTGACC	0.592																																						ENST00000291231.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						c.(490-492)aAc>aGc		olfactory receptor, family 3, subfamily A, member 3							167	152	157					17																	3324352		2203	4300	6503	SO:0001583	missense	8392				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3324352A>G	U04688	CCDS11025.1	17p13.3	2012-08-09			ENSG00000159961	ENSG00000159961		"GPCR / Class A : Olfactory receptors"	8284	protein-coding gene	gene with protein product				OR3A6, OR3A7, OR3A8P		8004088, 9500546	Standard	NM_012373		Approved	OR17-201, OR17-137, OR17-16	uc010vrd.2	P47888	OTTHUMG00000090649	ENST00000291231.1:c.491A>G	17.37:g.3324352A>G	ENSP00000291231:p.Asn164Ser						p.N164S	NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN			1	491	+			164					Q2VPE4|Q6IFM6|Q9P1Q4|Q9UBE7	Missense_Mutation	SNP	ENST00000291231.1	37	c.491A>G	CCDS11025.1	.	.	.	.	.	.	.	.	.	.	A	14.14	2.446801	0.43429	.	.	ENSG00000159961	ENST00000291231	T	0.36699	1.24	2.52	2.52	0.30459	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.37320	0.0999	L	0.31157	0.91	0.23459	N	0.997633	P	0.44195	0.828	P	0.53102	0.718	T	0.11842	-1.0571	9	0.48119	T	0.1	.	8.5622	0.33518	1.0:0.0:0.0:0.0	.	164	P47888	OR3A3_HUMAN	S	164	ENSP00000291231:N164S	ENSP00000291231:N164S	N	+	2	0	OR3A3	3271102	0.000000	0.05858	0.786000	0.31890	0.659000	0.38960	-0.929000	0.03976	1.384000	0.46424	0.529000	0.55759	AAC		0.592	OR3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207309.1			3	188	0	0	0	0.115264	0	3	188					G	3324352	A	G	3324352	3	3	111	1	0	0	0	0	1	0	0	0	11039	43	2	3	493	3	OR3A3	17	3324352	Missense_Mutation	SNP	A	TCGA-DJ-A2Q7-01A-11D-A18F-08		3324352	77870858	28	2364											
NUP88	4927	broad.mit.edu	37	chr17	5314088	5314088	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcacgttagtgggtgtctgCggctcacgtagtgagtaaat	13	7	3	1	rs148748521	byFrequency	TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr17:5314088C>T	ENST00000573584.1	-	4	1124	c.615G>A	c.(613-615)ccG>ccA	p.P205P		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	205					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)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						TGGGTGTCTGCGGCTCACGTA	0.373													c|||	3	0.000599042	0.0023	0	5008	,	,		18658	0		0	False		,,,				2504	0					ENST00000573584.1																			0				endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						c.(613-615)ccG>ccA		nucleoporin 88kDa		C		4,4402	8.1+/-20.4	0,4,2199	115	124	121		615	-6.4	0.8	17	dbSNP_134	121	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NUP88	NM_002532.4		0,5,6498	TT,TC,CC		0.0116,0.0908,0.0384		205/742	5314088	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	4927				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity	g.chr17:5314088C>T	Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"nucleoporin 88kD"			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.615G>A	17.37:g.5314088C>T							p.P205P	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN			4	1124	-			205					D3DTM2|Q9BWE5	Silent	SNP	ENST00000573584.1	37	c.615G>A	CCDS11070.1																																																																																				0.373	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216918.3	NM_002532		4	204	0	0	0	0.150653	0	4	204					T	5314088	C	T	5314088	2	4	111	1	0	0	0	0	0	0	0	1	10771	755	27	1		1	NUP88	17	5314088	Silent	SNP	C	TCGA-DJ-A2Q7-01A-11D-A18F-08	1989736	5314088	75881122	29	2365											
MYH8	4626	broad.mit.edu	37	chr17	10295952	10295952	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcattttcaacctctccttcAagctcacgtacctgcagcca	4	16	5	0			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr17:10295952A>T	ENST00000403437.2	-	38	5569	c.5475T>A	c.(5473-5475)ctT>ctA	p.L1825L	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1825					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						CCTCTCCTTCAAGCTCACGTA	0.463									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.(5473-5475)ctT>ctA		myosin, heavy chain 8, skeletal muscle, perinatal							168	158	161					17																	10295952		2203	4300	6503	SO:0001819	synonymous_variant	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.chr17:10295952A>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.5475T>A	17.37:g.10295952A>T						CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.L1825L	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			38	5569	-			1825					Q14910	Silent	SNP	ENST00000403437.2	37	c.5475T>A	CCDS11153.1																																																																																				0.463	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		7	159	0	0	0	0.248553	0	7	159					T	10295952	A	T	10295952	2	4	111	1	0	0	0	0	0	0	0	1	10041	117	5	5		5	MYH8	17	10295952	Silent	SNP	A	TCGA-DJ-A2Q7-01A-11D-A18F-08	4981864	10295952	70899258	30	2366											
HEATR6	63897	broad.mit.edu	37	chr17	58120954	58120954	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttaaccctgggagtgccccTtgtgatccagatgagtcaaa	11	10	1	3	rs558403592	byFrequency	TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr17:58120954T>C	ENST00000184956.6	-	20	3532	c.3516A>G	c.(3514-3516)caA>caG	p.Q1172Q	AC005702.2_ENST00000577558.1_RNA|MIR4737_ENST00000583979.1_RNA|AC005702.1_ENST00000581326.1_RNA|HEATR6_ENST00000585976.1_Silent_p.Q1060Q|AC005702.4_ENST00000583144.1_RNA|AC005702.3_ENST00000582298.1_RNA	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	1172							poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			GGAGTGCCCCTTGTGATCCAG	0.507													t|||	11	0.00219649	8e-04	0	5008	,	,		18730	0.001		0	False		,,,				2504	0.0092					ENST00000184956.6																			0				NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(3514-3516)caA>caG		HEAT repeat containing 6							106	108	108					17																	58120954		2203	4300	6503	SO:0001819	synonymous_variant	63897						binding	g.chr17:58120954T>C	BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"amplified in breast cancer 1"					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.3516A>G	17.37:g.58120954T>C						HEATR6_ENST00000585976.1_Silent_p.Q1060Q	p.Q1172Q	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		20	3532	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1172					B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Silent	SNP	ENST00000184956.6	37	c.3516A>G	CCDS11623.1																																																																																				0.507	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070		3	125	0	0	0	0.115264	0	3	125					C	58120954	T	C	58120954	2	2	111	1	0	0	0	0	0	0	0	1	7033	1606	56	3		3	HEATR6	17	58120954	Silent	SNP	T	TCGA-DJ-A2Q7-01A-11D-A18F-08	47825002	58120954	23074256	31	2367											
MLLT1	4298	broad.mit.edu	37	chr19	6213134	6213134	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaggtcgaagtcgaaggtGgtgttggtgacattgaagtg	17	3	0	3			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr19:6213134G>A	ENST00000252674.7	-	12	1762	c.1599C>T	c.(1597-1599)acC>acT	p.T533T	CTC-503J8.6_ENST00000586154.1_lincRNA|MLLT1_ENST00000585588.1_5'UTR	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	533					negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						AGTCGAAGGTGGTGTTGGTGA	0.627			T	MLL	AL																																	ENST00000252674.7				Dom	yes		19	19p13.3	4298	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"			L	MLL		AL		0				endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						c.(1597-1599)acC>acT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1							183	163	170					19																	6213134		2203	4300	6503	SO:0001819	synonymous_variant	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6213134G>A		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.1599C>T	19.37:g.6213134G>A						MLLT1_ENST00000585588.1_5'UTR	p.T533T	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN			12	1762	-			533					Q14768	Silent	SNP	ENST00000252674.7	37	c.1599C>T	CCDS12160.1																																																																																				0.627	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		40	89	0	0	0	0.864702	0	40	89					A	6213134	G	A	6213134	2	1	111	1	0	0	0	0	0	0	0	1	9625	1335	47	2		2	MLLT1	19	6213134	Silent	SNP	G	TCGA-DJ-A2Q7-01A-11D-A18F-08		6213134	52915849	32	2368											
GPRASP1	9737	broad.mit.edu	37	chrX	101912092	101912092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctgtgaaatgtttggggGcaaacccaggaacatggtac	12	7	1	1			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chrX:101912092G>A	ENST00000361600.5	+	5	4052	c.3251G>A	c.(3250-3252)gGc>gAc	p.G1084D	GPRASP1_ENST00000415986.1_Missense_Mutation_p.G1084D|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000537097.1_Missense_Mutation_p.G1084D|GPRASP1_ENST00000444152.1_Missense_Mutation_p.G1084D	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1084	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATGTTTGGGGGCAAACCCAGG	0.488																																						ENST00000537097.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3250-3252)gGc>gAc		G protein-coupled receptor associated sorting protein 1							125	128	127					X																	101912092		2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101912092G>A	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"Armadillo repeat containing"	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.3251G>A	X.37:g.101912092G>A	ENSP00000355146:p.Gly1084Asp					GPRASP1_ENST00000444152.1_Missense_Mutation_p.G1084D|GPRASP1_ENST00000415986.1_Missense_Mutation_p.G1084D|GPRASP1_ENST00000361600.5_Missense_Mutation_p.G1084D|RP4-769N13.7_ENST00000602441.1_RNA	p.G1084D	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN			6	4064	+			1084			OPRD1-binding.		O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.3251G>A	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	G	8.711	0.912136	0.17907	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.09163	3.01;3.01;3.01;3.01	2.84	1.97	0.26223	.	.	.	.	.	T	0.22399	0.0540	L	0.56769	1.78	0.09310	N	1	D	0.76494	0.999	D	0.66716	0.946	T	0.06552	-1.0820	9	0.62326	D	0.03	-7.2112	5.0117	0.14315	0.176:0.0:0.824:0.0	.	1084	Q5JY77	GASP1_HUMAN	D	1084	ENSP00000393691:G1084D;ENSP00000409420:G1084D;ENSP00000355146:G1084D;ENSP00000445683:G1084D	ENSP00000355146:G1084D	G	+	2	0	GPRASP1	101798748	0.998000	0.40836	0.027000	0.17364	0.879000	0.50718	0.876000	0.28092	0.602000	0.29896	0.284000	0.19432	GGC		0.488	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		4	230	0	0	0	0.150653	0	4	230					A	101912092	G	A	101912092	3	1	111	1	0	0	0	0	1	0	0	0	6722	1203	42	2	3253	2	GPRASP1	23	101912092	Missense_Mutation	SNP	G	TCGA-DJ-A2Q7-01A-11D-A18F-08		101912092	53358468	33	2369											
NGFRAP1	27018	broad.mit.edu	37	chrX	102632423	102632423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaaaaaaatctcatcatgGcaaatattcaccaggaaaac	4	8	3	0			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chrX:102632423G>A	ENST00000372645.3	+	3	331	c.4G>A	c.(4-6)Gca>Aca	p.A2T	NGFRAP1_ENST00000299872.7_Missense_Mutation_p.A2T|NGFRAP1_ENST00000361298.4_Intron|NGFRAP1_ENST00000372635.1_Missense_Mutation_p.A2T|NGFRAP1_ENST00000372634.1_Intron			Q00994	BEX3_HUMAN	nerve growth factor receptor (TNFRSF16) associated protein 1	2					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|metal ion binding (GO:0046872)			NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						TCTCATCATGGCAAATATTCA	0.468																																						ENST00000372645.3																			0				NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						c.(4-6)Gca>Aca		nerve growth factor receptor (TNFRSF16) associated protein 1							98	105	102					X																	102632423		2202	4300	6502	SO:0001583	missense	27018				apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway	cytosol|nucleus	caspase regulator activity|metal ion binding	g.chrX:102632423G>A	AF187064	CCDS14508.1, CCDS14509.1	Xq22.2	2014-03-21			ENSG00000166681	ENSG00000166681			13388	protein-coding gene	gene with protein product	"brain expressed, X-linked 3"	300361				10764727, 16221301, 2171551	Standard	NM_206915		Approved	BEX3, HGR74, Bex, NADE, DXS6984E	uc004ekj.1	Q00994	OTTHUMG00000022099	ENST00000372645.3:c.4G>A	X.37:g.102632423G>A	ENSP00000361728:p.Ala2Thr					NGFRAP1_ENST00000372634.1_Intron|NGFRAP1_ENST00000372635.1_Missense_Mutation_p.A2T|NGFRAP1_ENST00000299872.7_Missense_Mutation_p.A2T|NGFRAP1_ENST00000361298.4_Intron	p.A2T			Q00994	BEX3_HUMAN			3	331	+			2					B2RD17|D3DXA3|Q5JQT4|Q5JQT5	Missense_Mutation	SNP	ENST00000372645.3	37	c.4G>A	CCDS14508.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.788041	0.70337	.	.	ENSG00000166681	ENST00000372645;ENST00000372635;ENST00000299872	T;T;T	0.09723	2.95;2.95;2.95	3.53	3.53	0.40419	.	0.345645	0.21214	N	0.078258	T	0.12732	0.0309	N	0.08118	0	0.29960	N	0.81948	D	0.62365	0.991	D	0.66602	0.945	T	0.02596	-1.1136	10	0.72032	D	0.01	-2.453	9.6165	0.39694	0.0:0.0:1.0:0.0	.	2	Q00994	BEX3_HUMAN	T	2	ENSP00000361728:A2T;ENSP00000361718:A2T;ENSP00000299872:A2T	ENSP00000299872:A2T	A	+	1	0	NGFRAP1	102519079	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.305000	0.51873	2.016000	0.59253	0.600000	0.82982	GCA		0.468	NGFRAP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057709.1	NM_014380		4	190	0	0	0	0.184627	0	4	190					A	102632423	G	A	102632423	3	1	111	1	0	0	0	0	1	0	0	0	10397	1203	42	2	6	2	NGFRAP1	23	102632423	Missense_Mutation	SNP	G	TCGA-DJ-A2Q7-01A-11D-A18F-08	720331	102632423	52638137	34	2370											
PLS3	5358	broad.mit.edu	37	chrX	114871228	114871228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagcttctgcttagatggGcaaactttcatttggaaaac	9	7	2	2			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chrX:114871228G>A	ENST00000420625.2	+	8	963	c.829G>A	c.(829-831)Gca>Aca	p.A277T	PLS3_ENST00000537301.1_Missense_Mutation_p.A255T|PLS3_ENST00000355899.3_Missense_Mutation_p.A277T|PLS3_ENST00000539310.1_Missense_Mutation_p.A232T|PLS3_ENST00000289290.3_Missense_Mutation_p.A232T	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	277	Actin-binding 1.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				bone development (GO:0060348)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						GCTTAGATGGGCAAACTTTCA	0.388																																					Colon(160;1047 1864 8490 12969 29601)	ENST00000420625.2																			0				NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						c.(829-831)Gca>Aca		plastin 3							124	125	125					X																	114871228		2203	4300	6503	SO:0001583	missense	5358					cytoplasm	actin binding|calcium ion binding	g.chrX:114871228G>A	L05491	CCDS14568.1, CCDS65312.1	Xq23	2013-01-10	2010-02-10		ENSG00000102024	ENSG00000102024		"EF-hand domain containing"	9091	protein-coding gene	gene with protein product		300131	"plastin 3 (T isoform)"			8428952	Standard	NM_005032		Approved	T-plastin	uc004eqe.3	P13797	OTTHUMG00000022237	ENST00000420625.2:c.829G>A	X.37:g.114871228G>A	ENSP00000398945:p.Ala277Thr					PLS3_ENST00000539310.1_Missense_Mutation_p.A232T|PLS3_ENST00000537301.1_Missense_Mutation_p.A255T|PLS3_ENST00000355899.3_Missense_Mutation_p.A277T|PLS3_ENST00000289290.3_Missense_Mutation_p.A232T	p.A277T	NM_001136025.3|NM_001172335.1	NP_001129497.1|NP_001165806.1	P13797	PLST_HUMAN			8	963	+			277			Actin-binding 1.|CH 2.		A8K579|B1AQ09|B4DGB4|B7Z6M1|Q86YI6	Missense_Mutation	SNP	ENST00000420625.2	37	c.829G>A	CCDS14568.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679800	0.88542	.	.	ENSG00000102024	ENST00000355899;ENST00000537301;ENST00000289290;ENST00000420625;ENST00000539310	D;D;D;D;D	0.95069	-3.6;-3.6;-3.6;-3.6;-3.6	5.66	5.66	0.87406	Calponin homology domain (5);	0.095206	0.64402	D	0.000001	D	0.94394	0.8197	M	0.65975	2.015	0.80722	D	1	B;P;P	0.42620	0.242;0.785;0.636	B;B;B	0.43809	0.164;0.236;0.432	D	0.94546	0.7749	10	0.54805	T	0.06	-11.3604	17.1434	0.86760	0.0:0.0:1.0:0.0	.	250;255;277	B4DPW9;B4DGB4;P13797	.;.;PLST_HUMAN	T	277;255;232;277;232	ENSP00000348163:A277T;ENSP00000445105:A255T;ENSP00000289290:A232T;ENSP00000398945:A277T;ENSP00000445339:A232T	ENSP00000289290:A232T	A	+	1	0	PLS3	114777484	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.476000	0.97823	2.363000	0.80096	0.538000	0.68166	GCA		0.388	PLS3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057976.2			4	207	0	0	0	0.150653	0	4	207					A	114871228	G	A	114871228	3	1	111	1	0	0	0	0	1	0	0	0	12108	1203	42	2	855	2	PLS3	23	114871228	Missense_Mutation	SNP	G	TCGA-DJ-A2Q7-01A-11D-A18F-08	12238805	114871228	40399332	35	2371											
ZNF280C	55609	broad.mit.edu	37	chrX	129363020	129363020	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagggtgtgggatattgccGgtaacagtgctggcaggtgg	19	5	0	0			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chrX:129363020G>A	ENST00000370978.4	-	10	1231	c.1078C>T	c.(1078-1080)Cgg>Tgg	p.R360W		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	360					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(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						GGATATTGCCGGTAACAGTGC	0.433																																						ENST00000370978.4																			0				endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1078-1080)Cgg>Tgg		zinc finger protein 280C							380	279	313					X																	129363020		2203	4300	6503	SO:0001583	missense	55609				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:129363020G>A	AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"suppressor of hairy wing homolog 3 (Drosophila)"	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.1078C>T	X.37:g.129363020G>A	ENSP00000360017:p.Arg360Trp						p.R360W	NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN			10	1231	-			360					A8K2V8|Q9NXR3	Missense_Mutation	SNP	ENST00000370978.4	37	c.1078C>T	CCDS14622.1	.	.	.	.	.	.	.	.	.	.	g	17.11	3.305791	0.60305	.	.	ENSG00000056277	ENST00000066465;ENST00000370978;ENST00000447817	T;T	0.08102	4.0;3.13	4.12	3.25	0.37280	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.33469	0.0864	M	0.92026	3.265	0.37812	D	0.928098	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.42361	-0.9456	9	0.87932	D	0	.	10.3263	0.43796	0.0:0.0:0.8023:0.1977	.	360;360	Q9UJJ2;Q8ND82	.;Z280C_HUMAN	W	360	ENSP00000360017:R360W;ENSP00000408521:R360W	ENSP00000066465:R360W	R	-	1	2	ZNF280C	129190701	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	3.359000	0.52292	0.876000	0.35872	-0.371000	0.07208	CGG		0.433	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1	NM_017666		4	185	0	0	0	0.150653	0	4	185					A	129363020	G	A	129363020	3	1	111	1	0	0	0	0	1	0	0	0	17813	1115	39	1	1175	1	ZNF280C	23	129363020	Missense_Mutation	SNP	G	TCGA-DJ-A2Q7-01A-11D-A18F-08	14491792	129363020	25907540	36	2372											
SPTA1	6708	broad.mit.edu	37	chr1	158623172	158623172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttctgacatagacagctGggacaatgccctgatgatca	10	10	3	4			TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr1:158623172G>A	ENST00000368147.4	-	22	3260	c.3080C>T	c.(3079-3081)cCa>cTa	p.P1027L		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1027	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATAGACAGCTGGGACAATGCC	0.552																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(3079-3081)cCa>cTa		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							91	93	92					1																	158623172		2046	4175	6221	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158623172G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3080C>T	1.37:g.158623172G>A	ENSP00000357129:p.Pro1027Leu					SPTA1_ENST00000368147.3_Missense_Mutation_p.P1027L	p.P1027L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			22	3260	-	all_hematologic(112;0.0378)		1027			SH3.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.3080C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803707	0.70682	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	D;D	0.90563	-2.69;-2.69	5.15	5.15	0.70609	Src homology-3 domain (4);Spectrin alpha chain, SH3 domain (1);	0.000000	0.31976	N	0.006762	D	0.96636	0.8902	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96817	0.9601	10	0.54805	T	0.06	.	17.367	0.87367	0.0:0.0:1.0:0.0	.	1027	P02549	SPTA1_HUMAN	L	1027	ENSP00000357130:P1027L;ENSP00000357129:P1027L	ENSP00000357129:P1027L	P	-	2	0	SPTA1	156889796	1.000000	0.71417	0.991000	0.47740	0.165000	0.22458	8.882000	0.92420	2.692000	0.91855	0.655000	0.94253	CCA		0.552	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		6	76	0	0	0	0.001168	0	6	76					A	158623172	G	A	158623172	3	1	112	1	0	0	0	0	1	0	0	0	15115	1348	47	2	4303	2	SPTA1	1	158623172	Missense_Mutation	SNP	G	TCGA-DJ-A2Q8-01A-11D-A18F-08		158623172	90627449	1	2373											
PIGZ	80235	broad.mit.edu	37	chr3	196675177	196675177	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccttgcgtgtagggccccaCgttacatgggaggataccag	13	11	0	0	rs367792934		TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr3:196675177C>G	ENST00000412723.1	-	3	737	c.591G>C	c.(589-591)acG>acC	p.T197T	PIGZ_ENST00000443835.1_3'UTR	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	197					GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	alpha-1,2-mannosyltransferase activity (GO:0000026)|mannosyltransferase activity (GO:0000030)			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		TAGGGCCCCACGTTACATGGG	0.607																																						ENST00000412723.1																			0				breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14						c.(589-591)acG>acC		phosphatidylinositol glycan anchor biosynthesis, class Z							99	92	94					3																	196675177		2203	4300	6503	SO:0001819	synonymous_variant	80235				GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr3:196675177C>G	BC018804	CCDS3324.1	3q29	2013-02-26	2006-06-28		ENSG00000119227	ENSG00000119227		"Dolichyl D-mannosyl phosphate dependent mannosyltransferases", "Phosphatidylinositol glycan anchor biosynthesis"	30596	protein-coding gene	gene with protein product	"GPI mannosyltransferase 4", "dol-P-Man dependent GPI mannosyltransferase"	611671	"phosphatidylinositol glycan, class Z"			15208306	Standard	NM_025163		Approved	FLJ12768, MGC52163, SMP3	uc003fxh.3	Q86VD9	OTTHUMG00000155522	ENST00000412723.1:c.591G>C	3.37:g.196675177C>G						PIGZ_ENST00000443835.1_3'UTR	p.T197T	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)	3	737	-	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		197					Q9H9G6	Silent	SNP	ENST00000412723.1	37	c.591G>C	CCDS3324.1																																																																																				0.607	PIGZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340486.2	NM_025163		3	63	0	0	0	0.000248	0	3	63					G	196675177	C	G	196675177	2	3	112	1	0	0	0	0	0	0	0	1	11905	523	19	4		4	PIGZ	3	196675177	Silent	SNP	C	TCGA-DJ-A2Q8-01A-11D-A18F-08		196675177	1347253	2	2374											
NDST4	64579	broad.mit.edu	37	chr4	115898369	115898369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtaaaacttccctgaaaatCcaaggttgaaggtaaaattt	8	6	0	2			TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr4:115898369C>T	ENST00000264363.2	-	3	1718	c.1040G>A	c.(1039-1041)gGa>gAa	p.G347E		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	347	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CCCTGAAAATCCAAGGTTGAA	0.323																																						ENST00000264363.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(1039-1041)gGa>gAa		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							86	91	89					4																	115898369		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115898369C>T	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"Sulfotransferases, membrane-bound"	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1040G>A	4.37:g.115898369C>T	ENSP00000264363:p.Gly347Glu						p.G347E	NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	3	1718	-		Ovarian(17;0.156)	347			Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.1040G>A	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	C	31	5.081190	0.94050	.	.	ENSG00000138653	ENST00000264363	T	0.72282	-0.64	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.88779	0.6529	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90435	0.4427	10	0.87932	D	0	.	20.2576	0.98430	0.0:1.0:0.0:0.0	.	347	Q9H3R1	NDST4_HUMAN	E	347	ENSP00000264363:G347E	ENSP00000264363:G347E	G	-	2	0	NDST4	116117818	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.792000	0.85828	2.783000	0.95769	0.655000	0.94253	GGA		0.323	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		4	100	0	0	0	0.000248	0	4	100					T	115898369	C	T	115898369	3	4	112	1	0	0	0	0	1	0	0	0	10258	855	30	2	1626	2	NDST4	4	115898369	Missense_Mutation	SNP	C	TCGA-DJ-A2Q8-01A-11D-A18F-08		115898369	75255907	3	2375											
ACOT12	134526	broad.mit.edu	37	chr5	80626733	80626733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaccgatggcaaaatgaccGacttcactgccactgtgtaa	10	11	1	1	rs80124231	byFrequency	TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr5:80626733G>A	ENST00000307624.3	-	14	1446	c.1418C>T	c.(1417-1419)tCg>tTg	p.S473L	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	473	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		CAAAATGACCGACTTCACTGC	0.398													G|||	5	0.000998403	0.003	0	5008	,	,		18768	0		0.001	False		,,,				2504	0					ENST00000307624.3																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23						c.(1417-1419)tCg>tTg		acyl-CoA thioesterase 12		G	LEU/SER	3,4403	6.2+/-15.9	0,3,2200	77	73	74		1418	5.7	0.4	5	dbSNP_131	74	0,8600		0,0,4300	yes	missense	ACOT12	NM_130767.2	145	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging	473/556	80626733	3,13003	2203	4300	6503	SO:0001583	missense	134526				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chr5:80626733G>A	AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"Acyl CoA thioesterases", "StAR-related lipid transfer (START) domain containing"	24436	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 15"	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.1418C>T	5.37:g.80626733G>A	ENSP00000303246:p.Ser473Leu					ACOT12_ENST00000508234.1_5'UTR	p.S473L	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)	14	1446	-		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)	473			START.		B3KVK9|Q5FWE9	Missense_Mutation	SNP	ENST00000307624.3	37	c.1418C>T	CCDS4055.1	3	0.0013736263736263737	2	0.0040650406504065045	0	0.0	0	0.0	1	0.0013192612137203166	G	21.9	4.212745	0.79352	6.81E-4	0.0	ENSG00000172497	ENST00000307624	D	0.89050	-2.46	5.74	5.74	0.90152	Lipid-binding START (2);START-like domain (1);	0.000000	0.64402	D	0.000001	D	0.94833	0.8331	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95172	0.8291	10	0.87932	D	0	-22.0383	15.4181	0.74987	0.0:0.0:1.0:0.0	.	473	Q8WYK0	ACO12_HUMAN	L	473	ENSP00000303246:S473L	ENSP00000303246:S473L	S	-	2	0	ACOT12	80662489	1.000000	0.71417	0.397000	0.26308	0.646000	0.38490	5.936000	0.70153	2.716000	0.92895	0.561000	0.74099	TCG		0.398	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767		15	17	0	0	0	0.003163	0	15	17					A	80626733	G	A	80626733	3	1	112	1	0	0	0	0	1	0	0	0	150	1059	37	1	257	1	ACOT12	5	80626733	Missense_Mutation	SNP	G	TCGA-DJ-A2Q8-01A-11D-A18F-08		80626733	100288527	4	2376											
ZNF608	57507	broad.mit.edu	37	chr5	124079864	124079864	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atagagtttcccatgagcccTgaatccggggcacttttgct	10	11	0	3			TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr5:124079864T>C	ENST00000306315.5	-	1	1254	c.819A>G	c.(817-819)tcA>tcG	p.S273S	ZNF608_ENST00000504926.1_Intron	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	273							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)		CCATGAGCCCTGAATCCGGGG	0.562																																						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.(817-819)tcA>tcG		zinc finger protein 608							118	127	124					5																	124079864		2163	4224	6387	SO:0001819	synonymous_variant	57507					intracellular	zinc ion binding	g.chr5:124079864T>C	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.819A>G	5.37:g.124079864T>C						ZNF608_ENST00000504926.1_Intron	p.S273S	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)	1	1254	-		all_cancers(142;0.186)|Prostate(80;0.081)	273					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Silent	SNP	ENST00000306315.5	37	c.819A>G	CCDS34219.1																																																																																				0.562	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		4	212	0	0	0	0.000248	0	4	212					C	124079864	T	C	124079864	2	2	112	1	0	0	0	0	0	0	0	1	18031	1567	55	3		3	ZNF608	5	124079864	Silent	SNP	T	TCGA-DJ-A2Q8-01A-11D-A18F-08	43453131	124079864	56835396	5	2377											
PCDHA4	56144	broad.mit.edu	37	chr5	140188029	140188029	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggaccgcgagagcgtgtcAgcctatgagctggtggtgac	16	10	1	3	rs537741346		TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr5:140188029A>G	ENST00000530339.1	+	1	1257	c.1257A>G	c.(1255-1257)tcA>tcG	p.S419S	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Silent_p.S419S|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Silent_p.S419S|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	419	Cadherin 4. {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)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGCGTGTCAGCCTATGAGC	0.617																																						ENST00000530339.1																			0				breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(1255-1257)tcA>tcG									150	142	144					5																	140188029		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140188029A>G	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1257A>G	5.37:g.140188029A>G						PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Silent_p.S419S|PCDHA4_ENST00000512229.2_Silent_p.S419S|PCDHA2_ENST00000526136.1_Intron	p.S419S	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1257	+								O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.1257A>G	CCDS54916.1																																																																																				0.617	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		4	173	0	0	0	0.000602	0	4	173					G	140188029	A	G	140188029	2	3	112	1	0	0	0	0	0	0	0	1	11526	175	7	3		3	PCDHA4	5	140188029	Silent	SNP	A	TCGA-DJ-A2Q8-01A-11D-A18F-08	16108165	140188029	40727231	6	2378											
GRM1	2911	broad.mit.edu	37	chr6	146480652	146480652	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctagagtggtggtctgctTctgtgaaggcatgacagtgc	16	7	2	3			TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr6:146480652T>G	ENST00000282753.1	+	2	1104	c.869T>G	c.(868-870)tTc>tGc	p.F290C	GRM1_ENST00000392299.2_Missense_Mutation_p.F290C|GRM1_ENST00000361719.2_Missense_Mutation_p.F290C|GRM1_ENST00000492807.2_Missense_Mutation_p.F290C|GRM1_ENST00000507907.1_Missense_Mutation_p.F290C|GRM1_ENST00000355289.4_Missense_Mutation_p.F290C			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	290					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GTGGTCTGCTTCTGTGAAGGC	0.552																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(868-870)tTc>tGc		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						90	82	85					6																	146480652		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146480652T>G	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.869T>G	6.37:g.146480652T>G	ENSP00000282753:p.Phe290Cys					GRM1_ENST00000355289.4_Missense_Mutation_p.F290C|GRM1_ENST00000361719.2_Missense_Mutation_p.F290C|GRM1_ENST00000492807.2_Missense_Mutation_p.F290C|GRM1_ENST00000507907.1_Missense_Mutation_p.F290C|GRM1_ENST00000282753.1_Missense_Mutation_p.F290C	p.F290C			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	3	1339	+		Ovarian(120;0.0387)	290					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.869T>G	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.725450	0.89298	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	5.32	5.32	0.75619	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.92296	0.7556	M	0.93328	3.405	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;0.999;1.0;0.998	D	0.94331	0.7562	10	0.87932	D	0	.	15.2804	0.73778	0.0:0.0:0.0:1.0	.	290;290;285;290	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	C	290	ENSP00000354896:F290C;ENSP00000376119:F290C;ENSP00000424095:F290C;ENSP00000282753:F290C;ENSP00000347437:F290C;ENSP00000425599:F290C	ENSP00000282753:F290C	F	+	2	0	GRM1	146522345	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.650000	0.83521	2.019000	0.59389	0.533000	0.62120	TTC		0.552	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		3	86	0	0	0	0.004672	0	3	86					G	146480652	T	G	146480652	3	3	112	1	0	0	0	0	1	0	0	0	6796	1783	62	5	875	5	GRM1	6	146480652	Missense_Mutation	SNP	T	TCGA-DJ-A2Q8-01A-11D-A18F-08		146480652	24634415	7	2379											
VCP	7415	broad.mit.edu	37	chr9	35065309	35065309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagcaacaatgcaataaGggctaggatctgtttccacc	10	10	1	0			TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr9:35065309G>A	ENST00000358901.6	-	5	1410	c.515C>T	c.(514-516)cCt>cTt	p.P172L		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	172					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AATGCAATAAGGGCTAGGATC	0.478																																						ENST00000358901.6																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(514-516)cCt>cTt		valosin containing protein							132	114	120					9																	35065309		2203	4300	6503	SO:0001583	missense	7415				activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	g.chr9:35065309G>A	AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"ATPases / AAA-type"	12666	protein-coding gene	gene with protein product		601023	"valosin-containing protein"			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.515C>T	9.37:g.35065309G>A	ENSP00000351777:p.Pro172Leu						p.P172L	NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		5	1410	-			172					B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	ENST00000358901.6	37	c.515C>T	CCDS6573.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.981605	0.93044	.	.	ENSG00000165280	ENST00000358901;ENST00000448530	D;D	0.95103	-3.61;-3.61	6.07	6.07	0.98685	Cell division protein 48, Cdc48, domain 2 (1);	0.000000	0.85682	D	0.000000	D	0.96818	0.8961	M	0.91300	3.195	0.80722	D	1	P	0.51057	0.941	P	0.49477	0.612	D	0.95827	0.8855	10	0.36615	T	0.2	-26.4579	20.6593	0.99626	0.0:0.0:1.0:0.0	.	172	P55072	TERA_HUMAN	L	172;127	ENSP00000351777:P172L;ENSP00000392088:P127L	ENSP00000351777:P172L	P	-	2	0	VCP	35055309	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.682000	0.98655	2.885000	0.99019	0.655000	0.94253	CCT		0.478	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126		18	40	0	0	0	0.00499	0	18	40					A	35065309	G	A	35065309	3	1	112	1	0	0	0	0	1	0	0	0	17137	1000	35	2	1957	2	VCP	9	35065309	Missense_Mutation	SNP	G	TCGA-DJ-A2Q8-01A-11D-A18F-08		35065309	106148122	8	2380											
SETX	23064	broad.mit.edu	37	chr9	135140069	135140069	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ctgaagttggtcatgaacagGaggtctttcagggtcctttg	13	7	3	2			TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr9:135140069G>C	ENST00000224140.5	-	26	7773	c.7591C>G	c.(7591-7593)Cct>Gct	p.P2531A	SETX_ENST00000477049.1_5'UTR|SETX_ENST00000372169.2_Missense_Mutation_p.P2560A|SETX_ENST00000393220.1_Missense_Mutation_p.P2498A	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2531					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TCATGAACAGGAGGTCTTTCA	0.488																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(7678-7680)Cct>Gct		senataxin							112	112	112					9																	135140069		2203	4300	6503	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135140069G>C	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.7591C>G	9.37:g.135140069G>C	ENSP00000224140:p.Pro2531Ala					SETX_ENST00000393220.1_Missense_Mutation_p.P2498A|SETX_ENST00000477049.1_5'UTR|SETX_ENST00000224140.5_Missense_Mutation_p.P2531A	p.P2560A			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	27	7860	-		Myeloproliferative disorder(178;0.204)	2531					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.7678C>G	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	G	4.764	0.142067	0.09083	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.90133	-2.0;-2.62;-2.11;-1.79	4.94	0.674	0.17946	.	0.689788	0.12931	N	0.427382	T	0.81941	0.4929	L	0.51422	1.61	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.63198	-0.6691	10	0.02654	T	1	.	4.1156	0.10079	0.1514:0.1253:0.5945:0.1288	.	2498;2531;2560	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	A	2531;802;2560;2498	ENSP00000224140:P2531A;ENSP00000409143:P802A;ENSP00000361242:P2560A;ENSP00000376913:P2498A	ENSP00000224140:P2531A	P	-	1	0	SETX	134129890	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	0.028000	0.13644	0.212000	0.20703	0.561000	0.74099	CCT		0.488	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		3	109	0	0	0	0.004672	0	3	109					C	135140069	G	C	135140069	3	2	112	1	0	0	0	0	1	0	0	0	14141	1174	41	4	446	4	SETX	9	135140069	Missense_Mutation	SNP	G	TCGA-DJ-A2Q8-01A-11D-A18F-08	100074760	135140069	6073362	9	2381											
MYBPC3	4607	broad.mit.edu	37	chr11	47369997	47369997	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacagtgagattgaagttGgagcagtcaaatttgtcctt	12	5	1	2			TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr11:47369997G>A	ENST00000545968.1	-	6	804	c.750C>T	c.(748-750)tcC>tcT	p.S250S	MYBPC3_ENST00000399249.2_Silent_p.S250S|MYBPC3_ENST00000256993.4_Silent_p.S250S	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	250	Ig-like C2-type 1.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GATTGAAGTTGGAGCAGTCAA	0.577																																						ENST00000399249.2																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42						c.(748-750)tcC>tcT		myosin binding protein C, cardiac							70	84	79					11																	47369997		2052	4180	6232	SO:0001819	synonymous_variant	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47369997G>A	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7551	protein-coding gene	gene with protein product		600958	"myosin-binding protein C, cardiac"	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.750C>T	11.37:g.47369997G>A						MYBPC3_ENST00000256993.4_Silent_p.S250S|MYBPC3_ENST00000545968.1_Silent_p.S250S	p.S250S			Q14896	MYPC3_HUMAN		Lung(87;0.176)	6	804	-			250			Ig-like C2-type 1.		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Silent	SNP	ENST00000545968.1	37	c.750C>T	CCDS53621.1																																																																																				0.577	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			7	18	0	0	0	0.001984	0	7	18					A	47369997	G	A	47369997	2	1	112	1	0	0	0	0	0	0	0	1	10013	1335	47	2		2	MYBPC3	11	47369997	Silent	SNP	G	TCGA-DJ-A2Q8-01A-11D-A18F-08		47369997	87636519	10	2382											
EMG1	10436	broad.mit.edu	37	chr12	7080210	7080211	+	Splice_Site	INS	-	-	G													aaacaagatcggaggccgtaINSgtttattgtggtgctggaag					rs60117710|rs374779752|rs200041551		TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr12:7080210_7080211insG	ENST00000261406.6	+	2	266		c.e2-1		EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000544134.1_5'Flank|PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000535923.1_5'Flank|PHB2_ENST00000546111.1_5'Flank|PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000542912.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		CGGAGGCCGTAGTTTATTGTGG	0.569													GG|G|GG|deletion	5008	1	1	1	5008	,	,		18008	1		1	False		,,,				2504	1					ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3732,16		1865,2,7						3.0	1.0		dbSNP_129	28	7880,30		3934,12,9	no	frameshift	EMG1	NM_006331.7		5799,14,16	A1A1,A1R,RR		0.3793,0.4269,0.3946				11612,46				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080210_7080211insG	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"EMG1 nucleolar protein homolog (S. cerevisiae)"			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->G	12.37:g.7080211_7080211dupG						U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA				Q92979	NEP1_HUMAN			0	155_156	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Intron	6	6						6	6	---	---	---	---	G	7080211	-	G	7080210	8	5	112	1	0	1	1	0	0	0	1	0	5090	420	15	0	126	0	EMG1	12	7080210	Splice_Site	INS	-	TCGA-DJ-A2Q8-01A-11D-A18F-08		7080210	126771685	11	2383											
CREBBP	1387	broad.mit.edu	37	chr16	3828107	3828107	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccaagatgccttgtttatgtAaacgcgacctccgtttttct	7	11	1	1			TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr16:3828107A>T	ENST00000262367.5	-	10	2827	c.2018T>A	c.(2017-2019)tTa>tAa	p.L673*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.L635*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	673					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTGTTTATGTAAACGCGACCT	0.433			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"T, N, F, Mis, O"	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"MLL, MORF, RUNXBP2"		"ALL, AML, DLBCL, B-NHL "		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(2017-2019)tTa>tAa		CREB binding protein							117	135	129					16																	3828107		2197	4300	6497	SO:0001587	stop_gained	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3828107A>T	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.2018T>A	16.37:g.3828107A>T	ENSP00000262367:p.Leu673*					CREBBP_ENST00000382070.3_Nonsense_Mutation_p.L635*	p.L673*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	10	2827	-		Ovarian(90;0.0266)	673					D3DUC9|O00147|Q16376|Q4LE28	Nonsense_Mutation	SNP	ENST00000262367.5	37	c.2018T>A	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	A	48	14.364501	0.99792	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	.	.	.	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.2591	16.3265	0.82983	1.0:0.0:0.0:0.0	.	.	.	.	X	673;703;635	.	ENSP00000262367:L673X	L	-	2	0	CREBBP	3768108	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.251000	0.78297	2.313000	0.78055	0.455000	0.32223	TTA		0.433	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		7	152	0	0	0	0.006214	0	7	152					T	3828107	A	T	3828107	4	4	112	1	0	0	0	0	0	1	0	0	3861	372	13	5	5398	5	CREBBP	16	3828107	Nonsense_Mutation	SNP	A	TCGA-DJ-A2Q8-01A-11D-A18F-08		3828107	86526646	12	2384											
ATP2C2	9914	broad.mit.edu	37	chr16	84495624	84495624	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatttgagatcggctttctcAggaaccacatgttcctctac	7	11	2	1			TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr16:84495624A>G	ENST00000262429.4	+	26	2700	c.2611A>G	c.(2611-2613)Agg>Ggg	p.R871G	RP11-517C16.2_ENST00000565700.1_RNA|ATP2C2_ENST00000416219.2_Missense_Mutation_p.R900G|ATP2C2_ENST00000420010.2_3'UTR	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	871					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CGGCTTTCTCAGGAACCACAT	0.587																																						ENST00000416219.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						c.(2698-2700)Agg>Ggg		ATPase, Ca++ transporting, type 2C, member 2							140	152	148					16																	84495624		2084	4200	6284	SO:0001583	missense	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84495624A>G	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"ATPases / P-type"	29103	protein-coding gene	gene with protein product	"secretory pathway calcium ATPase 2"	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.2611A>G	16.37:g.84495624A>G	ENSP00000262429:p.Arg871Gly					RP11-517C16.2_ENST00000565700.1_RNA|ATP2C2_ENST00000262429.4_Missense_Mutation_p.R871G|ATP2C2_ENST00000420010.2_3'UTR	p.R900G			O75185	AT2C2_HUMAN			27	2787	+			871					B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	ENST00000262429.4	37	c.2698A>G	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	A	12.41	1.928504	0.34002	.	.	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	D;D	0.88354	-2.37;-2.37	5.28	-0.267	0.12938	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.159283	0.41938	D	0.000789	D	0.85652	0.5746	L	0.37630	1.12	0.39498	D	0.968157	B;B;B;B;B	0.32245	0.361;0.361;0.312;0.312;0.361	B;B;B;B;B	0.39771	0.216;0.309;0.205;0.205;0.309	T	0.79317	-0.1853	10	0.40728	T	0.16	.	17.021	0.86433	0.3644:0.6356:0.0:0.0	.	900;720;720;888;871	E7ES94;B3KR57;F8WAA5;O75185-2;O75185	.;.;.;.;AT2C2_HUMAN	G	900;871;720	ENSP00000397925:R900G;ENSP00000262429:R871G	ENSP00000262429:R871G	R	+	1	2	ATP2C2	83053125	0.994000	0.37717	0.935000	0.37517	0.479000	0.33129	0.439000	0.21575	-0.296000	0.08947	0.459000	0.35465	AGG		0.587	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		3	132	0	0	0	0.000248	0	3	132					G	84495624	A	G	84495624	3	3	112	1	0	0	0	0	1	0	0	0	1144	179	7	3	2713	3	ATP2C2	16	84495624	Missense_Mutation	SNP	A	TCGA-DJ-A2Q8-01A-11D-A18F-08	80667517	84495624	5859129	13	2385											
PRR22	163154	broad.mit.edu	37	chr19	5783841	5783841	+	Frame_Shift_Del	DEL	C	C	-													tagggcaagagaaactggggCcccccgggtgcctgctggta							TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr19:5783841delC	ENST00000419421.2	-	3	521	c.417delG	c.(415-417)gggfs	p.G139fs		NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	139	Pro-rich.									endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						GAAACTGGGGCCCCCCGGGTG	0.721																																						ENST00000419421.2																			0				endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						c.(415-417)ggfs		proline rich 22							4	6	5					19																	5783841		2004	4029	6033	SO:0001589	frameshift_variant	163154							g.chr19:5783841delC	BC023278	CCDS45933.1	19p13.3	2012-12-20			ENSG00000212123	ENSG00000212123			28354	protein-coding gene	gene with protein product						12477932	Standard	NM_001134316		Approved	MGC24975	uc010xiv.1	Q8IZ63	OTTHUMG00000180553	ENST00000419421.2:c.417delG	19.37:g.5783841delC	ENSP00000407653:p.Gly139fs						p.G139fs	NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN			3	521	-			137			Pro-rich.		E9PB31	Frame_Shift_Del	DEL	ENST00000419421.2	37	c.417delG	CCDS45933.1																																																																																				0.721	PRR22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368523.1	NM_153359		2	4						2	4	---	---	---	---	-	5783841	C	-	5783841	7	5	112	1	0	1	0	1	0	0	0	0	12593	726	26	0	855	0	PRR22	19	5783841	Frame_Shift_Del	DEL	C	TCGA-DJ-A2Q8-01A-11D-A18F-08		5783841	53345142	14	2386											
ADAM33	80332	broad.mit.edu	37	chr20	3652627	3652627	+	Frame_Shift_Del	DEL	G	G	-													acaggcctcgggagctgggtGggagcctgaggaagcatggg							TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr20:3652627delG	ENST00000356518.2	-	15	1844	c.1603delC	c.(1603-1605)cacfs	p.H535fs	ADAM33_ENST00000379861.4_Frame_Shift_Del_p.H535fs|ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000350009.2_Frame_Shift_Del_p.H535fs	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	535	Cys-rich.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GGAGCTGGGTGGGAGCCTGAG	0.652																																						ENST00000356518.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						c.(1603-1605)acfs		ADAM metallopeptidase domain 33							16	15	15					20																	3652627		2161	4225	6386	SO:0001589	frameshift_variant	80332				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr20:3652627delG	AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"ADAM metallopeptidase domain containing"	15478	protein-coding gene	gene with protein product		607114	"a disintegrin and metalloproteinase domain 33", "chromosome 20 open reading frame 153"	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.1603delC	20.37:g.3652627delG	ENSP00000348912:p.His535fs					ADAM33_ENST00000350009.2_Frame_Shift_Del_p.H535fs|ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000379861.4_Frame_Shift_Del_p.H535fs	p.H535fs	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN			15	1844	-			535			Cys-rich.		A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Frame_Shift_Del	DEL	ENST00000356518.2	37	c.1603delC	CCDS13058.1																																																																																				0.652	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220		2	4						2	4	---	---	---	---	-	3652627	G	-	3652627	7	5	112	1	0	1	0	1	0	0	0	0	250	1348	47	0	870	0	ADAM33	20	3652627	Frame_Shift_Del	DEL	G	TCGA-DJ-A2Q8-01A-11D-A18F-08		3652627	59372893	15	2387											
PCDH11X	27328	broad.mit.edu	37	chrX	91873707	91873707	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattgccctccatcgtagtcAggcccaatcatcagtcagtt	7	13	4	0			TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chrX:91873707A>G	ENST00000373094.1	+	7	4657	c.3812A>G	c.(3811-3813)cAg>cGg	p.Q1271R	PCDH11X_ENST00000406881.1_Missense_Mutation_p.Q1263R|PCDH11X_ENST00000373088.1_Missense_Mutation_p.Q1234R|PCDH11X_ENST00000298274.8_Missense_Mutation_p.Q1234R|PCDH11X_ENST00000361655.2_Missense_Mutation_p.Q1253R|PCDH11X_ENST00000373097.1_Missense_Mutation_p.Q1261R|PCDH11X_ENST00000504220.2_3'UTR	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1271					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CATCGTAGTCAGGCCCAATCA	0.547																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(3811-3813)cAg>cGg		protocadherin 11 X-linked							231	207	215					X																	91873707		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91873707A>G	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3812A>G	X.37:g.91873707A>G	ENSP00000362186:p.Gln1271Arg					PCDH11X_ENST00000361655.2_Missense_Mutation_p.Q1253R|PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000298274.8_Missense_Mutation_p.Q1234R|PCDH11X_ENST00000406881.1_Missense_Mutation_p.Q1263R|PCDH11X_ENST00000373088.1_Missense_Mutation_p.Q1234R|PCDH11X_ENST00000373097.1_Missense_Mutation_p.Q1261R	p.Q1271R	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			7	4657	+			1271					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.3812A>G	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	A	5.111	0.206096	0.09704	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.53423	0.65;0.66;0.67;0.62;0.66;0.66	4.28	1.13	0.20643	.	.	.	.	.	T	0.28599	0.0708	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B	0.29716	0.255;0.255;0.255;0.255;0.165	B;B;B;B;B	0.28784	0.094;0.094;0.094;0.094;0.043	T	0.20273	-1.0280	9	0.59425	D	0.04	.	4.615	0.12422	0.215:0.5407:0.0:0.2443	.	1234;1253;1263;1261;1271	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	R	1271;1261;1234;1253;1263;1271;1234	ENSP00000362186:Q1271R;ENSP00000362189:Q1261R;ENSP00000362180:Q1234R;ENSP00000355105:Q1253R;ENSP00000384758:Q1263R;ENSP00000298274:Q1234R	ENSP00000298274:Q1234R	Q	+	2	0	PCDH11X	91760363	0.000000	0.05858	0.001000	0.08648	0.056000	0.15407	-0.018000	0.12568	0.152000	0.19188	0.380000	0.24917	CAG		0.547	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		4	258	0	0	0	0.000248	0	4	258					G	91873707	A	G	91873707	3	3	112	1	0	0	0	0	1	0	0	0	11508	188	7	3	3960	3	PCDH11X	23	91873707	Missense_Mutation	SNP	A	TCGA-DJ-A2Q8-01A-11D-A18F-08		91873707	63396853	16	2388											
OR2G6	391211	broad.mit.edu	37	chr1	248685767	248685767	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaaaccagggaaagtttGtttctcttttctataccata	5	9	2	0			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr1:248685767G>T	ENST00000343414.4	+	1	852	c.820G>T	c.(820-822)Gtt>Ttt	p.V274F		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	274						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(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGGAAAGTTTGTTTCTCTTTT	0.438																																						ENST00000343414.4																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(820-822)Gtt>Ttt		olfactory receptor, family 2, subfamily G, member 6							101	104	103					1																	248685767		2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685767G>T		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"GPCR / Class A : Olfactory receptors"	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.820G>T	1.37:g.248685767G>T	ENSP00000341291:p.Val274Phe						p.V274F	NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	852	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	274					B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.820G>T	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	13.71	2.319436	0.41096	.	.	ENSG00000188558	ENST00000343414	T	0.38722	1.12	3.83	3.83	0.44106	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39985	U	0.001218	T	0.44456	0.1294	N	0.20530	0.585	0.09310	N	1	D	0.76494	0.999	D	0.74348	0.983	T	0.21280	-1.0250	10	0.31617	T	0.26	.	10.8109	0.46547	0.0:0.1934:0.8066:0.0	.	274	Q5TZ20	OR2G6_HUMAN	F	274	ENSP00000341291:V274F	ENSP00000341291:V274F	V	+	1	0	OR2G6	246752390	0.021000	0.18746	0.998000	0.56505	0.949000	0.60115	0.915000	0.28638	1.964000	0.57103	0.400000	0.26472	GTT		0.438	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		9	73	1	0	0.000442599	0.335167	0.000525587	9	73					T	248685767	G	T	248685767	3	4	113	1	0	0	0	0	1	0	0	0	11000	1377	48	4	822	4	OR2G6	1	248685767	Missense_Mutation	SNP	G	TCGA-DJ-A2Q9-01A-21D-A18F-08		248685767	564854	1	2389											
RTKN	6242	broad.mit.edu	37	chr2	74656958	74656958	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtgcaaggccttacccaAcaactggggtggggagcaag	16	9	0	0			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr2:74656958A>G	ENST00000233330.6	-	6	919	c.602T>C	c.(601-603)gTt>gCt	p.V201A	RTKN_ENST00000484453.1_5'Flank|RTKN_ENST00000305557.5_Missense_Mutation_p.V238A|RTKN_ENST00000272430.5_Missense_Mutation_p.V251A	NM_001015056.1	NP_001015056.1			rhotekin											endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						GCCTTACCCAACAACTGGGGT	0.602																																						ENST00000305557.5																			0				endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						c.(712-714)gTt>gCt		rhotekin							39	38	38					2																	74656958		2203	4300	6503	SO:0001583	missense	6242				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity	g.chr2:74656958A>G	AF049227	CCDS1941.1, CCDS33226.1, CCDS42699.1	2p13.1	2013-01-10			ENSG00000114993	ENSG00000114993		"Pleckstrin homology (PH) domain containing"	10466	protein-coding gene	gene with protein product		602288				9073523, 10940294	Standard	XM_005264478		Approved	B5	uc002sle.3	Q9BST9	OTTHUMG00000129955	ENST00000233330.6:c.602T>C	2.37:g.74656958A>G	ENSP00000233330:p.Val201Ala					RTKN_ENST00000233330.6_Missense_Mutation_p.V201A|RTKN_ENST00000272430.5_Missense_Mutation_p.V251A	p.V238A	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN			7	1298	-			251						Missense_Mutation	SNP	ENST00000233330.6	37	c.713T>C	CCDS42699.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.085098	0.76642	.	.	ENSG00000114993	ENST00000305557;ENST00000272430;ENST00000233330	T;T;T	0.46819	0.86;0.86;0.86	4.77	3.62	0.41486	.	0.000000	0.85682	D	0.000000	T	0.51092	0.1654	L	0.44542	1.39	0.54753	D	0.999984	D;P	0.53619	0.961;0.952	P;P	0.57846	0.828;0.736	T	0.44081	-0.9351	10	0.39692	T	0.17	.	8.4788	0.33030	0.9076:0.0:0.0924:0.0	.	251;238	Q9BST9;Q9BST9-2	RTKN_HUMAN;.	A	238;251;201	ENSP00000305298:V238A;ENSP00000272430:V251A;ENSP00000233330:V201A	ENSP00000233330:V201A	V	-	2	0	RTKN	74510466	1.000000	0.71417	0.999000	0.59377	0.875000	0.50365	5.727000	0.68523	0.861000	0.35504	0.459000	0.35465	GTT		0.602	RTKN-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328236.3	NM_001015055		4	43	0	0	0	0.150653	0	4	43					G	74656958	A	G	74656958	3	3	113	1	0	0	0	0	1	0	0	0	13722	43	2	3	967	3	RTKN	2	74656958	Missense_Mutation	SNP	A	TCGA-DJ-A2Q9-01A-21D-A18F-08		74656958	168542415	2	2390											
LONRF2	164832	broad.mit.edu	37	chr2	100903492	100903492	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttgatgcacagaatcgtggaGagcggcaagttcttcatact	11	8	2	3	rs371304900		TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr2:100903492G>C	ENST00000393437.3	-	11	2593	c.1954C>G	c.(1954-1956)Ctc>Gtc	p.L652V	LONRF2_ENST00000409647.1_Missense_Mutation_p.L409V	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	652	Lon.						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						GAATCGTGGAGAGCGGCAAGT	0.488																																						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.(1954-1956)Ctc>Gtc		LON peptidase N-terminal domain and ring finger 2		G	VAL/LEU	0,4406		0,0,2203	107	81	90		1954	4.1	0.0	2		90	1,8599	1.2+/-3.3	0,1,4299	no	missense	LONRF2	NM_198461.3	32	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	probably-damaging	652/755	100903492	1,13005	2203	4300	6503	SO:0001583	missense	164832				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr2:100903492G>C	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.1954C>G	2.37:g.100903492G>C	ENSP00000377086:p.Leu652Val					LONRF2_ENST00000409647.1_Missense_Mutation_p.L409V	p.L652V	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN			11	2593	-			652			Lon.		B9A006|Q6ZSR4	Missense_Mutation	SNP	ENST00000393437.3	37	c.1954C>G	CCDS2046.2	.	.	.	.	.	.	.	.	.	.	G	13.17	2.158628	0.38119	0.0	1.16E-4	ENSG00000170500	ENST00000393437;ENST00000409647	T;T	0.42131	0.98;0.98	4.95	4.07	0.47477	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.073467	0.56097	D	0.000030	T	0.64907	0.2641	M	0.80746	2.51	0.51482	D	0.999927	D	0.89917	1.0	D	0.83275	0.996	T	0.68746	-0.5327	10	0.59425	D	0.04	-17.7526	12.9931	0.58632	0.0783:0.0:0.9217:0.0	.	652	Q1L5Z9	LONF2_HUMAN	V	652;409	ENSP00000377086:L652V;ENSP00000386823:L409V	ENSP00000377086:L652V	L	-	1	0	LONRF2	100269924	1.000000	0.71417	0.011000	0.14972	0.007000	0.05969	4.270000	0.58896	1.069000	0.40788	0.655000	0.94253	CTC		0.488	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2	NM_198461		3	35	0	0	0	0.115264	0	3	35					C	100903492	G	C	100903492	3	2	113	1	0	0	0	0	1	0	0	0	8895	942	33	4	318	4	LONRF2	2	100903492	Missense_Mutation	SNP	G	TCGA-DJ-A2Q9-01A-21D-A18F-08	26246534	100903492	142295881	3	2391											
PTPRN	5798	broad.mit.edu	37	chr2	220162111	220162111	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggctccggtggaccctctgcCcggttgaacaaggacttcgt	13	13	1	1			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr2:220162111C>G	ENST00000295718.2	-	14	2172	c.1932G>C	c.(1930-1932)cgG>cgC	p.R644R	PTPRN_ENST00000409251.3_Silent_p.R615R|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Silent_p.R554R|PTPRN_ENST00000497977.1_5'Flank	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	644					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GACCCTCTGCCCGGTTGAACA	0.627																																						ENST00000295718.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1930-1932)cgG>cgC		protein tyrosine phosphatase, receptor type, N							61	63	62					2																	220162111		2203	4300	6503	SO:0001819	synonymous_variant	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220162111C>G		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1932G>C	2.37:g.220162111C>G						PTPRN_ENST00000423636.2_Silent_p.R554R|PTPRN_ENST00000409251.3_Silent_p.R615R	p.R644R	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	14	2172	-		Renal(207;0.0474)	644					B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Silent	SNP	ENST00000295718.2	37	c.1932G>C	CCDS2440.1																																																																																				0.627	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			6	56	0	0	0	0.248553	0	6	56					G	220162111	C	G	220162111	2	3	113	1	0	0	0	0	0	0	0	1	12807	610	22	4		4	PTPRN	2	220162111	Silent	SNP	C	TCGA-DJ-A2Q9-01A-21D-A18F-08	119258619	220162111	23037262	4	2392											
DOCK10	55619	broad.mit.edu	37	chr2	225739448	225739448	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctggcgtgcattcacaagTtacagaattatccagcgaat	8	10	2	1			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr2:225739448T>C	ENST00000258390.7	-	9	1019	c.952A>G	c.(952-954)Act>Gct	p.T318A	DOCK10_ENST00000409592.3_Missense_Mutation_p.T312A	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	318					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CATTCACAAGTTACAGAATTA	0.373																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(934-936)Act>Gct		dedicator of cytokinesis 10							143	136	138					2																	225739448		1865	4110	5975	SO:0001583	missense	55619						GTP binding	g.chr2:225739448T>C	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.952A>G	2.37:g.225739448T>C	ENSP00000258390:p.Thr318Ala					DOCK10_ENST00000258390.7_Missense_Mutation_p.T318A	p.T312A			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	9	1047	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	318					B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.934A>G	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	T	6.428	0.447078	0.12223	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.03212	4.01;4.01	5.4	-0.3	0.12804	.	1.134760	0.06277	N	0.696709	T	0.03564	0.0102	L	0.40543	1.245	0.09310	N	0.999993	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.0;0.002;0.0	T	0.49093	-0.8975	10	0.18710	T	0.47	.	5.1807	0.15158	0.0:0.2482:0.1404:0.6114	.	318;318;312	Q96BY6;Q96BY6-2;B3FL70	DOC10_HUMAN;.;.	A	312;318	ENSP00000386694:T312A;ENSP00000258390:T318A	ENSP00000258390:T318A	T	-	1	0	DOCK10	225447692	0.930000	0.31532	0.062000	0.19696	0.268000	0.26511	1.404000	0.34623	-0.244000	0.09639	-0.379000	0.06801	ACT		0.373	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			11	114	0	0	0	0.411799	0	11	114					C	225739448	T	C	225739448	3	2	113	1	0	0	0	0	1	0	0	0	4685	1725	60	3	5800	3	DOCK10	2	225739448	Missense_Mutation	SNP	T	TCGA-DJ-A2Q9-01A-21D-A18F-08	5577337	225739448	17459925	5	2393											
PIK3CB	5291	broad.mit.edu	37	chr3	138374244	138374244	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgatcgttaagatctgtagTctttccgaactgtgtgggcc	11	9	2	2			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr3:138374244T>A	ENST00000477593.1	-	23	3273	c.3200A>T	c.(3199-3201)gAc>gTc	p.D1067V	PIK3CB_ENST00000289153.2_Missense_Mutation_p.D1067V|PIK3CB_ENST00000544716.1_Missense_Mutation_p.D518V			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	1067	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|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)	p.D1067V(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	AGATCTGTAGTCTTTCCGAAC	0.408																																						ENST00000477593.1																			1	Substitution - Missense(1)	p.D1067V(1)	skin(1)	NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(3199-3201)gAc>gTc		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta							139	129	132					3																	138374244		2203	4300	6503	SO:0001583	missense	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138374244T>A		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"phosphoinositide-3-kinase, catalytic, beta polypeptide"	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.3200A>T	3.37:g.138374244T>A	ENSP00000418143:p.Asp1067Val					PIK3CB_ENST00000289153.2_Missense_Mutation_p.D1067V|PIK3CB_ENST00000544716.1_Missense_Mutation_p.D518V	p.D1067V			P42338	PK3CB_HUMAN			23	3273	-			1067			PI3K/PI4K.		D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	c.3200A>T	CCDS3104.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.64|19.64	3.866111|3.866111	0.71949|0.71949	.|.	.|.	ENSG00000051382|ENSG00000051382	ENST00000477593;ENST00000544716;ENST00000289153|ENST00000493568	T;T;T|.	0.71934|.	-0.61;-0.19;-0.61|.	5.55|5.55	5.55|5.55	0.83447|0.83447	Phosphatidylinositol 3-/4-kinase, catalytic (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75133|0.75133	0.3808|0.3808	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.77557|.	0.99;0.987;0.99|.	T|T	0.75645|0.75645	-0.3246|-0.3246	10|5	0.66056|.	D|.	0.02|.	-22.5439|-22.5439	15.8615|15.8615	0.79026|0.79026	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1067;654;518|.	P42338;B4DZI3;Q68DL0|.	PK3CB_HUMAN;.;.|.	V|S	1067;518;1067|699	ENSP00000418143:D1067V;ENSP00000438259:D518V;ENSP00000289153:D1067V|.	ENSP00000289153:D1067V|.	D|T	-|-	2|1	0|0	PIK3CB|PIK3CB	139856934|139856934	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.886000|0.886000	0.51366|0.51366	7.398000|7.398000	0.79919|0.79919	2.333000|2.333000	0.79357|0.79357	0.533000|0.533000	0.62120|0.62120	GAC|ACT		0.408	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			5	65	0	0	0	0.184627	0	5	65					A	138374244	T	A	138374244	3	1	113	1	0	0	0	0	1	0	0	0	11914	1667	58	5	14	5	PIK3CB	3	138374244	Missense_Mutation	SNP	T	TCGA-DJ-A2Q9-01A-21D-A18F-08		138374244	59648186	6	2394											
WDR49	151790	broad.mit.edu	37	chr3	167245799	167245799	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcttactggagttaagacAgtactcctgaatgaaaagaa	9	6	1	4			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr3:167245799A>G	ENST00000308378.3	-	11	1662	c.1357T>C	c.(1357-1359)Tgt>Cgt	p.C453R	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.C278R|WDR49_ENST00000453925.2_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	453										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GAGTTAAGACAGTACTCCTGA	0.353																																						ENST00000308378.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(1357-1359)Tgt>Cgt		WD repeat domain 49							106	101	103					3																	167245799		2203	4300	6503	SO:0001583	missense	151790							g.chr3:167245799A>G	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"WD repeat domain containing"	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1357T>C	3.37:g.167245799A>G	ENSP00000311343:p.Cys453Arg					WDR49_ENST00000476376.1_Missense_Mutation_p.C278R|WDR49_ENST00000453925.2_Intron|WDR49_ENST00000479765.1_Intron	p.C453R	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN			11	1662	-			453					Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	c.1357T>C	CCDS3201.1	.	.	.	.	.	.	.	.	.	.	A	15.31	2.795381	0.50208	.	.	ENSG00000174776	ENST00000308378;ENST00000476376	T;T	0.58652	0.32;1.56	5.7	5.7	0.88788	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.366820	0.32769	N	0.005671	T	0.75117	0.3806	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.74444	-0.3663	10	0.25106	T	0.35	.	13.4893	0.61386	1.0:0.0:0.0:0.0	.	453	Q8IV35	WDR49_HUMAN	R	453;278	ENSP00000311343:C453R;ENSP00000420508:C278R	ENSP00000311343:C453R	C	-	1	0	WDR49	168728493	1.000000	0.71417	1.000000	0.80357	0.446000	0.32137	4.399000	0.59703	2.178000	0.69098	0.455000	0.32223	TGT		0.353	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		7	37	0	0	0	0.27861	0	7	37					G	167245799	A	G	167245799	3	3	113	1	0	0	0	0	1	0	0	0	17299	188	7	3	756	3	WDR49	3	167245799	Missense_Mutation	SNP	A	TCGA-DJ-A2Q9-01A-21D-A18F-08	28871555	167245799	30776631	7	2395											
USP46	64854	broad.mit.edu	37	chr4	53492228	53492228	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcattggtaagcgttcccTgaaaaatctcatggacccag	8	10	2	1			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr4:53492228T>C	ENST00000441222.3	-	4	702	c.518A>G	c.(517-519)cAg>cGg	p.Q173R	USP46_ENST00000451218.2_Missense_Mutation_p.Q146R|USP46_ENST00000508499.1_Missense_Mutation_p.Q166R	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	173	USP.				adult feeding behavior (GO:0008343)|behavioral fear response (GO:0001662)|behavioral response to ethanol (GO:0048149)|protein deubiquitination (GO:0016579)|regulation of synaptic transmission, GABAergic (GO:0032228)|righting reflex (GO:0060013)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			AAGCGTTCCCTGAAAAATCTC	0.383																																						ENST00000441222.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12						c.(517-519)cAg>cGg		ubiquitin specific peptidase 46							123	117	119					4																	53492228		1869	4137	6006	SO:0001583	missense	64854				behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr4:53492228T>C	AK022614	CCDS47053.1, CCDS47054.1	4q12	2008-02-05	2005-08-08		ENSG00000109189	ENSG00000109189		"Ubiquitin-specific peptidases"	20075	protein-coding gene	gene with protein product		612849	"ubiquitin specific protease 46"			12838346	Standard	NM_022832		Approved	FLJ12552	uc003gzn.3	P62068	OTTHUMG00000160640	ENST00000441222.3:c.518A>G	4.37:g.53492228T>C	ENSP00000407818:p.Gln173Arg					USP46_ENST00000451218.2_Missense_Mutation_p.Q146R|USP46_ENST00000508499.1_Missense_Mutation_p.Q166R	p.Q173R	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.0295)		4	702	-			173					B7Z3Y7|B7Z675|B7Z7S3|G8ACC7|Q80V95|Q9H7U4|Q9H9T8	Missense_Mutation	SNP	ENST00000441222.3	37	c.518A>G	CCDS47053.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.958840	0.53400	.	.	ENSG00000109189	ENST00000441222;ENST00000451218;ENST00000508499	T;T;T	0.31247	1.5;1.5;1.5	5.08	5.08	0.68730	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000018	T	0.33818	0.0876	M	0.67953	2.075	0.80722	D	1	B;B;B;B	0.18610	0.02;0.011;0.029;0.01	B;B;B;B	0.29077	0.059;0.059;0.098;0.025	T	0.13872	-1.0493	10	0.12430	T	0.62	-17.1457	14.345	0.66654	0.0:0.0:0.0:1.0	.	57;161;173;166	P62068-2;P62068-4;P62068;P62068-3	.;.;UBP46_HUMAN;.	R	173;146;166	ENSP00000407818:Q173R;ENSP00000390102:Q146R;ENSP00000423244:Q166R	ENSP00000407818:Q173R	Q	-	2	0	USP46	53186985	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	6.263000	0.72521	2.046000	0.60703	0.528000	0.53228	CAG		0.383	USP46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361516.2	NM_022832		3	56	0	0	0	0.150653	0	3	56					C	53492228	T	C	53492228	3	2	113	1	0	0	0	0	1	0	0	0	17074	1580	55	3	606	3	USP46	4	53492228	Missense_Mutation	SNP	T	TCGA-DJ-A2Q9-01A-21D-A18F-08		53492228	137662048	8	2396											
SHROOM3	57619	broad.mit.edu	37	chr4	77700311	77700311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcagtggtattttcccaaCattaacctctccactttaac	3	12	2	0			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr4:77700311C>T	ENST00000296043.6	+	11	6925	c.5972C>T	c.(5971-5973)aCa>aTa	p.T1991I	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1991					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ATTTTCCCAACATTAACCTCT	0.448																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(5971-5973)aCa>aTa		shroom family member 3							59	61	60					4																	77700311		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77700311C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.5972C>T	4.37:g.77700311C>T	ENSP00000296043:p.Thr1991Ile					RP11-359D14.3_ENST00000449007.1_RNA	p.T1991I	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		11	6925	+			1991					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.5972C>T	CCDS3579.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.22|13.22	2.172615|2.172615	0.38413|0.38413	.|.	.|.	ENSG00000138771|ENSG00000138771	ENST00000264907|ENST00000296043	.|T	.|0.23754	.|1.89	4.76|4.76	4.76|4.76	0.60689|0.60689	.|.	.|1.262800	.|0.05565	.|N	.|0.570102	T|T	0.24005|0.24005	0.0581|0.0581	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|P	.|0.40476	.|0.718	.|B	.|0.33890	.|0.172	T|T	0.49153|0.49153	-0.8969|-0.8969	6|10	0.87932|0.62326	D|D	0|0.03	-0.7361|-0.7361	18.0389|18.0389	0.89313|0.89313	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1991	.|Q8TF72	.|SHRM3_HUMAN	Y|I	258|1991	.|ENSP00000296043:T1991I	ENSP00000264907:H258Y|ENSP00000296043:T1991I	H|T	+|+	1|2	0|0	SHROOM3|SHROOM3	77919335|77919335	0.187000|0.187000	0.23238|0.23238	0.005000|0.005000	0.12908|0.12908	0.024000|0.024000	0.10985|0.10985	5.496000|5.496000	0.66918|0.66918	2.498000|2.498000	0.84270|0.84270	0.586000|0.586000	0.80456|0.80456	CAT|ACA		0.448	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		4	51	0	0	0	0.150653	0	4	51					T	77700311	C	T	77700311	3	4	113	1	0	0	0	0	1	0	0	0	14295	478	17	2	6014	2	SHROOM3	4	77700311	Missense_Mutation	SNP	C	TCGA-DJ-A2Q9-01A-21D-A18F-08	24208083	77700311	113453965	9	2397											
EGFLAM	133584	broad.mit.edu	37	chr5	38451448	38451448	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagatcaaatgtgttcatgAggtttaaaacaactgccaag	8	7	2	2			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr5:38451448A>G	ENST00000354891.3	+	20	2945	c.2599A>G	c.(2599-2601)Agg>Ggg	p.R867G	EGFLAM_ENST00000336740.6_Missense_Mutation_p.R625G|EGFLAM_ENST00000322350.5_Missense_Mutation_p.R859G|EGFLAM_ENST00000514476.1_Missense_Mutation_p.R2G|EGFLAM_ENST00000397202.2_Missense_Mutation_p.R225G|EGFLAM_ENST00000397210.3_Missense_Mutation_p.R2G|EGFLAM_ENST00000506135.1_Missense_Mutation_p.R2G	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	867	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGTGTTCATGAGGTTTAAAAC	0.473																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(2575-2577)Agg>Ggg		EGF-like, fibronectin type III and laminin G domains							217	197	204					5																	38451448		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38451448A>G	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"Fibronectin type III domain containing"	26810	protein-coding gene	gene with protein product	"pikachurin", "agrin-like"					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2599A>G	5.37:g.38451448A>G	ENSP00000346964:p.Arg867Gly					EGFLAM_ENST00000336740.6_Missense_Mutation_p.R625G|EGFLAM_ENST00000354891.3_Missense_Mutation_p.R867G|EGFLAM_ENST00000397202.2_Missense_Mutation_p.R225G|EGFLAM_ENST00000514476.1_Missense_Mutation_p.R2G|EGFLAM_ENST00000506135.1_Missense_Mutation_p.R2G|EGFLAM_ENST00000397210.3_Missense_Mutation_p.R2G	p.R859G	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			19	2921	+	all_lung(31;0.000385)		867			Laminin G-like 3.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.2575A>G	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	A	19.15	3.772459	0.69992	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580;ENST00000397210;ENST00000506135;ENST00000508131;ENST00000514476	T;T;T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-0.05;-0.05;-1.23;-0.05	5.78	3.3	0.37823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.148946	0.64402	D	0.000020	D	0.83326	0.5230	L	0.60957	1.885	0.44825	D	0.997838	D;D;P	0.69078	0.997;0.973;0.93	D;P;P	0.64042	0.921;0.773;0.736	T	0.82484	-0.0434	10	0.56958	D	0.05	-10.5348	12.3629	0.55213	0.7329:0.2671:0.0:0.0	.	625;867;859	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	G	867;859;625;225;625;2;2;2;2	ENSP00000346964:R867G;ENSP00000313084:R859G;ENSP00000337607:R625G;ENSP00000380385:R225G;ENSP00000380393:R2G;ENSP00000425579:R2G;ENSP00000427228:R2G;ENSP00000423228:R2G	ENSP00000313084:R859G	R	+	1	2	EGFLAM	38487205	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.347000	0.59373	0.413000	0.25759	0.528000	0.53228	AGG		0.473	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		3	100	0	0	0	0.115264	0	3	100					G	38451448	A	G	38451448	3	3	113	1	0	0	0	0	1	0	0	0	4966	295	11	3	2663	3	EGFLAM	5	38451448	Missense_Mutation	SNP	A	TCGA-DJ-A2Q9-01A-21D-A18F-08		38451448	142463812	10	2398											
AP3B1	8546	broad.mit.edu	37	chr5	77452176	77452176	+	Missense_Mutation	SNP	T	T	A													tctttataacaaccacacttTcagcaacaactatttctgaa							TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr5:77452176T>A	ENST00000255194.6	-	14	1554	c.1379A>T	c.(1378-1380)gAa>gTa	p.E460V	AP3B1_ENST00000519295.1_Missense_Mutation_p.E411V	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	460					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		AACCACACTTTCAGCAACAAC	0.299									Hermansky-Pudlak syndrome																													ENST00000255194.6																			0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39						c.(1378-1380)gAa>gTa		adaptor-related protein complex 3, beta 1 subunit							122	118	119					5																	77452176		2202	4299	6501	SO:0001583	missense	8546	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77452176T>A	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.1379A>T	5.37:g.77452176T>A	ENSP00000255194:p.Glu460Val					AP3B1_ENST00000519295.1_Missense_Mutation_p.E411V	p.E460V	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	14	1554	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	460					E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	ENST00000255194.6	37	c.1379A>T	CCDS4041.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.529890	0.85706	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	T;T	0.33654	1.4;1.4	5.38	5.38	0.77491	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72843	0.3511	H	0.96916	3.905	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.83216	-0.0071	10	0.87932	D	0	-23.231	15.6801	0.77360	0.0:0.0:0.0:1.0	.	460	O00203	AP3B1_HUMAN	V	460;411;460;364	ENSP00000255194:E460V;ENSP00000430597:E411V	ENSP00000255194:E460V	E	-	2	0	AP3B1	77487932	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.961000	0.87903	2.161000	0.67846	0.460000	0.39030	GAA		0.299	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			7	76	0	0	0	0.27861	0	7	76					A	77452176	T	A	77452176	3	1	113	1	0	0	0	0	1	0	0	0	744	1783	62	5	1961	5	AP3B1	5	77452176	Missense_Mutation	SNP	T	TCGA-DJ-A2Q9-01A-21D-A18F-08	39000728	77452176	103463084	11	2399	12	2									
AP3B1	8546	broad.mit.edu	37	chr5	77452177	77452177	+	Missense_Mutation	SNP	C	C	T													ctttataacaaccacactttCagcaacaactatttctgaaa							TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr5:77452177C>T	ENST00000255194.6	-	14	1553	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K	AP3B1_ENST00000519295.1_Missense_Mutation_p.E411K	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	460					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		ACCACACTTTCAGCAACAACT	0.299									Hermansky-Pudlak syndrome																													ENST00000255194.6																			0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39						c.(1378-1380)Gaa>Aaa		adaptor-related protein complex 3, beta 1 subunit							120	117	118					5																	77452177		2202	4299	6501	SO:0001583	missense	8546	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77452177C>T	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.1378G>A	5.37:g.77452177C>T	ENSP00000255194:p.Glu460Lys					AP3B1_ENST00000519295.1_Missense_Mutation_p.E411K	p.E460K	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	14	1553	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	460					E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	ENST00000255194.6	37	c.1378G>A	CCDS4041.1	.	.	.	.	.	.	.	.	.	.	C	34	5.336161	0.95758	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	T;T	0.30448	1.53;1.53	5.38	5.38	0.77491	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71048	0.3294	H	0.96916	3.905	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.81662	-0.0831	10	0.87932	D	0	-23.231	19.4894	0.95044	0.0:1.0:0.0:0.0	.	460	O00203	AP3B1_HUMAN	K	460;411;460;364	ENSP00000255194:E460K;ENSP00000430597:E411K	ENSP00000255194:E460K	E	-	1	0	AP3B1	77487933	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.741000	0.84997	2.676000	0.91093	0.563000	0.77884	GAA		0.299	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			7	76	0	0	0	0.27861	0	7	76					T	77452177	C	T	77452177	3	4	113	1	0	0	0	0	1	0	0	0	744	835	29	2	1962	2	AP3B1	5	77452177	Missense_Mutation	SNP	C	TCGA-DJ-A2Q9-01A-21D-A18F-08	1	77452177	103463083	12	2400	12	2									
EPPK1	83481	broad.mit.edu	37	chr8	144940615	144940615	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggggtcgatgacgaagccGgtggccgcctgcgcctccag	16	14	0	1			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr8:144940615G>A	ENST00000525985.1	-	2	6878	c.6807C>T	c.(6805-6807)acC>acT	p.T2269T				P58107	EPIPL_HUMAN	epiplakin 1	2269						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGACGAAGCCGGTGGCCGCCT	0.716																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6805-6807)acC>acT		epiplakin 1							36	36	36					8																	144940615		2150	4233	6383	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940615G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6807C>T	8.37:g.144940615G>A							p.T2269T			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	6878	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2269					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.6807C>T																																																																																					0.716	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		7	55	0	0	0	0.248553	0	7	55					A	144940615	G	A	144940615	2	1	113	1	0	0	0	0	0	0	0	1	5190	1103	39	1		1	EPPK1	8	144940615	Silent	SNP	G	TCGA-DJ-A2Q9-01A-21D-A18F-08		144940615	1423407	13	2401											
LPPR1	54886	broad.mit.edu	37	chr9	104071536	104071536	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctactgacatttttgtaaaCgccggacaagtggtcactgg	11	9	1	1	rs199553611		TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr9:104071536C>T	ENST00000374874.3	+	5	868	c.429C>T	c.(427-429)aaC>aaT	p.N143N	LPPR1_ENST00000395056.2_Silent_p.N143N	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		143					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)										TTTTTGTAAACGCCGGACAAG	0.418																																						ENST00000374874.3																			0											c.(427-429)aaC>aaT				C	,	0,4406		0,0,2203	174	160	165		429,429	-7.2	0.9	9		165	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	LPPR1	NM_017753.2,NM_207299.1	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	143/326,143/326	104071536	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0					integral to membrane	catalytic activity	g.chr9:104071536C>T																												ENST00000374874.3:c.429C>T	9.37:g.104071536C>T						LPPR1_ENST00000395056.2_Silent_p.N143N	p.N143N	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN			5	868	+			143					Q5VX23|Q9NXE2	Silent	SNP	ENST00000374874.3	37	c.429C>T	CCDS6751.1																																																																																				0.418	LPPR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053425.1			9	71	0	0	0	0.307466	0	9	71					T	104071536	C	T	104071536	2	4	113	1	0	0	0	0	0	0	0	1	8924	535	19	1		1	LPPR1	9	104071536	Silent	SNP	C	TCGA-DJ-A2Q9-01A-21D-A18F-08		104071536	37141895	14	2402											
FZD8	8325	broad.mit.edu	37	chr10	35930194	35930194	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgtcgtggttgaactgaTtgggcatgtaggtgtagttg	17	4	0	2			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr10:35930194T>C	ENST00000374694.1	-	1	168	c.164A>G	c.(163-165)aAt>aGt	p.N55S	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	55	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						GTTGAACTGATTGGGCATGTA	0.617																																						ENST00000374694.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						c.(163-165)aAt>aGt		frizzled family receptor 8							152	114	127					10																	35930194		2203	4300	6503	SO:0001583	missense	8325				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr10:35930194T>C	AB043703	CCDS7192.1	10p11.2	2014-01-29	2014-01-29		ENSG00000177283	ENSG00000177283		"GPCR / Class F : Frizzled receptors"	4046	protein-coding gene	gene with protein product		606146	"frizzled (Drosophila) homolog 8", "frizzled homolog 8 (Drosophila)", "frizzled 8, seven transmembrane spanning receptor", "frizzled family receptor 8"			11295046	Standard	NM_031866		Approved		uc001iyz.1	Q9H461	OTTHUMG00000017956	ENST00000374694.1:c.164A>G	10.37:g.35930194T>C	ENSP00000363826:p.Asn55Ser						p.N55S	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN			1	168	-			55			FZ.			Missense_Mutation	SNP	ENST00000374694.1	37	c.164A>G	CCDS7192.1	.	.	.	.	.	.	.	.	.	.	T	17.03	3.285227	0.59867	.	.	ENSG00000177283	ENST00000374694	T	0.61274	0.12	3.92	3.92	0.45320	Frizzled domain (5);	0.138862	0.45126	U	0.000393	T	0.79387	0.4437	M	0.91768	3.24	0.58432	D	0.999995	D	0.89917	1.0	D	0.77004	0.989	D	0.84070	0.0379	10	0.66056	D	0.02	.	13.0623	0.59014	0.0:0.0:0.0:1.0	.	55	Q9H461	FZD8_HUMAN	S	55	ENSP00000363826:N55S	ENSP00000363826:N55S	N	-	2	0	FZD8	35970200	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.810000	0.86072	1.560000	0.49568	0.379000	0.24179	AAT		0.617	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047575.2	NM_031866		3	33	0	0	0	0.115264	0	3	33					C	35930194	T	C	35930194	3	2	113	1	0	0	0	0	1	0	0	0	6136	1493	52	3	1924	3	FZD8	10	35930194	Missense_Mutation	SNP	T	TCGA-DJ-A2Q9-01A-21D-A18F-08		35930194	99604553	15	2403											
DUSP13	142891	broad.mit.edu	37	chr10	76868831	76868831	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaagaagacttccctgcccGcaggagctcctccagctcca	9	17	0	2			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr10:76868831G>A	ENST00000542569.1	+	0	0				DUSP13_ENST00000607131.1_5'UTR|DUSP13_ENST00000607009.1_5'UTR|DUSP13_ENST00000491677.2_5'UTR|SAMD8_ENST00000372687.4_5'Flank|SAMD8_ENST00000372690.3_5'Flank|DUSP13_ENST00000372700.3_Missense_Mutation_p.R29W|DUSP13_ENST00000372702.3_Missense_Mutation_p.R29W	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)					TTCCCTGCCCGCAGGAGCTCC	0.642																																						ENST00000372702.3																			0				large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8						c.(85-87)Cgg>Tgg		dual specificity phosphatase 13							79	66	70					10																	76868831		2203	4300	6503	SO:0001631	upstream_gene_variant	0					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76868831G>A	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.76868831G>A	Exception_encountered					DUSP13_ENST00000491677.2_5'UTR|DUSP13_ENST00000607131.1_5'UTR|DUSP13_ENST00000607009.1_5'UTR|DUSP13_ENST00000372700.3_Missense_Mutation_p.R29W	p.R29W			Q6B8I1	MDSP_HUMAN			1	148	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		29					Q5JSC5|Q5JSC8|Q66K52	Missense_Mutation	SNP	ENST00000542569.1	37	c.85C>T	CCDS53543.1	.	.	.	.	.	.	.	.	.	.	G	5.928	0.355267	0.11239	.	.	ENSG00000079393	ENST00000372702;ENST00000372700	T;T	0.60797	0.16;3.37	5.52	-1.97	0.07503	.	.	.	.	.	T	0.38983	0.1061	N	0.02158	-0.66	0.44477	D	0.99741	D;D	0.65815	0.995;0.989	P;P	0.50708	0.648;0.54	T	0.55354	-0.8154	9	0.87932	D	0	.	15.5613	0.76249	0.0:0.0:0.5835:0.4165	.	29;29	Q9UII6-4;Q6B8I1	.;MDSP_HUMAN	W	29	ENSP00000361787:R29W;ENSP00000361785:R29W	ENSP00000361785:R29W	R	-	1	2	DUSP13	76538837	0.978000	0.34361	0.921000	0.36526	0.418000	0.31294	0.073000	0.14640	0.040000	0.15660	-0.272000	0.10252	CGG		0.642	SAMD8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_144660		3	39	0	0	0	0.150653	0	3	39					A	76868831	G	A	76868831	1	1	113	0	1	0	0	0	0	0	0	0	4813	1086	38	1		1	DUSP13	10	76868831	5'Flank	SNP	G	TCGA-DJ-A2Q9-01A-21D-A18F-08	40938637	76868831	58665916	16	2404											
MKI67	4288	broad.mit.edu	37	chr10	129905423	129905423	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttctctgtcaggtccagttTctgcactggagttcccataa	9	11	3	0			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr10:129905423T>C	ENST00000368654.3	-	13	5056	c.4681A>G	c.(4681-4683)Aaa>Gaa	p.K1561E	MKI67_ENST00000368653.3_Missense_Mutation_p.K1201E	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1561	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGGTCCAGTTTCTGCACTGGA	0.493																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(4681-4683)Aaa>Gaa		marker of proliferation Ki-67							268	243	251					10																	129905423		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129905423T>C	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4681A>G	10.37:g.129905423T>C	ENSP00000357643:p.Lys1561Glu					MKI67_ENST00000368653.3_Missense_Mutation_p.K1201E	p.K1561E	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	5056	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1561			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.4681A>G	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	T	16.60	3.167279	0.57476	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02974	4.09;4.09	4.21	3.07	0.35406	.	0.501759	0.18604	N	0.136346	T	0.07548	0.0190	L	0.52905	1.665	0.09310	N	1	P;P;D	0.76494	0.94;0.811;0.999	P;B;D	0.69824	0.638;0.382;0.966	T	0.15607	-1.0431	10	0.09084	T	0.74	.	7.5474	0.27775	0.0:0.1033:0.0:0.8967	.	1560;1201;1561	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	E	1561;1201;1560	ENSP00000357643:K1561E;ENSP00000357642:K1201E	ENSP00000357642:K1201E	K	-	1	0	MKI67	129795413	0.012000	0.17670	0.006000	0.13384	0.041000	0.13682	1.872000	0.39549	0.606000	0.29965	0.379000	0.24179	AAA		0.493	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		17	192	0	0	0	0.520397	0	17	192					C	129905423	T	C	129905423	3	2	113	1	0	0	0	0	1	0	0	0	9598	1792	62	3	5101	3	MKI67	10	129905423	Missense_Mutation	SNP	T	TCGA-DJ-A2Q9-01A-21D-A18F-08	53036592	129905423	5629324	17	2405											
LRP5	4041	broad.mit.edu	37	chr11	68181159	68181159	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccgtgtgtgttcatgcaggtCaggagcgggtcgtgattgcc	16	9	2	1			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr11:68181159C>T	ENST00000294304.7	+	12	2612	c.2506C>T	c.(2506-2508)Cag>Tag	p.Q836*		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	836	Beta-propeller 3.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|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 apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCATGCAGGTCAGGAGCGGGT	0.607																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2506-2508)Cag>Tag		low density lipoprotein receptor-related protein 5							89	67	74					11																	68181159		2200	4294	6494	SO:0001587	stop_gained	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68181159C>T	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.2506C>T	11.37:g.68181159C>T	ENSP00000294304:p.Gln836*						p.Q836*	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			12	2612	+			836			Beta-propeller 3.		Q96TD6|Q9UES7|Q9UP66	Nonsense_Mutation	SNP	ENST00000294304.7	37	c.2506C>T	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	C	38	6.686412	0.97764	.	.	ENSG00000162337	ENST00000294304	.	.	.	4.8	4.8	0.61643	.	0.321536	0.21837	U	0.068394	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7412	0.62849	0.0:0.8459:0.1541:0.0	.	.	.	.	X	836	.	ENSP00000294304:Q836X	Q	+	1	0	LRP5	67937735	0.889000	0.30405	1.000000	0.80357	0.378000	0.30076	3.265000	0.51561	2.485000	0.83878	0.462000	0.41574	CAG		0.607	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		4	50	0	0	0	0.150653	0	4	50					T	68181159	C	T	68181159	4	4	113	1	0	0	0	0	0	1	0	0	8960	827	29	2	2552	2	LRP5	11	68181159	Nonsense_Mutation	SNP	C	TCGA-DJ-A2Q9-01A-21D-A18F-08		68181159	66825357	18	2406											
PCDH9	5101	broad.mit.edu	37	chr13	67801027	67801027	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcctgtttttcggtccagatCaaagaaggaggcattcggtc	11	9	1	2			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr13:67801027C>T	ENST00000377865.2	-	1	1680	c.1546G>A	c.(1546-1548)Gat>Aat	p.D516N	PCDH9_ENST00000456367.1_Missense_Mutation_p.D516N|PCDH9_ENST00000328454.5_Missense_Mutation_p.D516N|PCDH9_ENST00000544246.1_Missense_Mutation_p.D516N|PCDH9_ENST00000377861.3_Missense_Mutation_p.D516N			Q9HC56	PCDH9_HUMAN	protocadherin 9	516	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CGGTCCAGATCAAAGAAGGAG	0.433																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(1546-1548)Gat>Aat		protocadherin 9							97	100	99					13																	67801027		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67801027C>T	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.1546G>A	13.37:g.67801027C>T	ENSP00000367096:p.Asp516Asn					PCDH9_ENST00000377865.2_Missense_Mutation_p.D516N|PCDH9_ENST00000377861.3_Missense_Mutation_p.D516N|PCDH9_ENST00000456367.1_Missense_Mutation_p.D516N|PCDH9_ENST00000328454.5_Missense_Mutation_p.D516N	p.D516N	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	2237	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	516			Cadherin 5.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.1546G>A	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	9.065	0.995527	0.19043	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7	6.08	6.08	0.98989	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.25827	0.0629	N	0.01284	-0.91	0.80722	D	1	B;B;B;B	0.22909	0.004;0.004;0.077;0.015	B;B;B;B	0.22601	0.017;0.023;0.023;0.04	T	0.19289	-1.0310	10	0.31617	T	0.26	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	516;516;516;516	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	N	516	ENSP00000442186:D516N;ENSP00000367096:D516N;ENSP00000401699:D516N;ENSP00000332060:D516N;ENSP00000367092:D516N	ENSP00000332060:D516N	D	-	1	0	PCDH9	66699028	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.999000	0.70665	2.894000	0.99253	0.655000	0.94253	GAT		0.433	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		4	80	0	0	0	0.150653	0	4	80					T	67801027	C	T	67801027	3	4	113	1	0	0	0	0	1	0	0	0	11518	826	29	2	2183	2	PCDH9	13	67801027	Missense_Mutation	SNP	C	TCGA-DJ-A2Q9-01A-21D-A18F-08		67801027	47368851	19	2407											
ZFHX3	463	broad.mit.edu	37	chr16	72829670	72829670	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccatctttgccctctcccTgattctcataattcttcctg	3	16	4	1			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr16:72829670T>C	ENST00000268489.5	-	9	7583	c.6911A>G	c.(6910-6912)cAg>cGg	p.Q2304R	ZFHX3_ENST00000397992.5_Missense_Mutation_p.Q1390R	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2304					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)				GCCCTCTCCCTGATTCTCATA	0.443																																						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.(6910-6912)cAg>cGg		zinc finger homeobox 3							127	130	129					16																	72829670		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.chr16:72829670T>C	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.6911A>G	16.37:g.72829670T>C	ENSP00000268489:p.Gln2304Arg					ZFHX3_ENST00000397992.5_Missense_Mutation_p.Q1390R	p.Q2304R	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	7583	-		Ovarian(137;0.13)	2304					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.6911A>G	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	T	16.87	3.241826	0.58995	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.76709	-1.04;-1.02	5.65	5.65	0.86999	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.47852	D	0.000219	D	0.83128	0.5187	L	0.41492	1.28	0.80722	D	1	D	0.57899	0.981	D	0.67900	0.954	D	0.84602	0.0673	10	0.62326	D	0.03	.	15.8734	0.79141	0.0:0.0:0.0:1.0	.	2304	Q15911	ZFHX3_HUMAN	R	2304;1390	ENSP00000268489:Q2304R;ENSP00000438926:Q1390R	ENSP00000268489:Q2304R	Q	-	2	0	ZFHX3	71387171	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.147000	0.66899	0.459000	0.35465	CAG		0.443	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		3	129	0	0	0	0.115264	0	3	129					C	72829670	T	C	72829670	3	2	113	1	0	0	0	0	1	0	0	0	17631	1580	55	3	4208	3	ZFHX3	16	72829670	Missense_Mutation	SNP	T	TCGA-DJ-A2Q9-01A-21D-A18F-08		72829670	17525083	20	2408											
MGAT5B	146664	broad.mit.edu	37	chr17	74878302	74878302	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggagctgatggtgaagcGcatggacgcactggccaggc	17	10	0	2	rs377057899		TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr17:74878302G>A	ENST00000569840.2	+	3	825	c.251G>A	c.(250-252)cGc>cAc	p.R84H	MGAT5B_ENST00000565675.1_Missense_Mutation_p.R84H|MGAT5B_ENST00000301618.4_Missense_Mutation_p.R84H|MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000428789.2_Missense_Mutation_p.R95H	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	84					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATGGTGAAGCGCATGGACGCA	0.672																																						ENST00000569840.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(250-252)cGc>cAc		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B							32	29	30					17																	74878302		2203	4299	6502	SO:0001583	missense	146664					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr17:74878302G>A	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	24140	protein-coding gene	gene with protein product		612441	"mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.251G>A	17.37:g.74878302G>A	ENSP00000456037:p.Arg84His					MGAT5B_ENST00000301618.4_Missense_Mutation_p.R84H|MGAT5B_ENST00000565675.1_Missense_Mutation_p.R84H|MGAT5B_ENST00000428789.2_Missense_Mutation_p.R95H|MGAT5B_ENST00000374998.3_3'UTR	p.R84H	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN			3	825	+			84					Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	37	c.251G>A	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	G	32	5.149341	0.94645	.	.	ENSG00000167889	ENST00000374998;ENST00000301618;ENST00000428789	T;T	0.58797	0.33;0.31	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000001	T	0.70570	0.3239	L	0.54323	1.7	0.52099	D	0.999945	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.69289	-0.5184	10	0.40728	T	0.16	-33.2215	14.2918	0.66284	0.0:0.0:1.0:0.0	.	95;84	Q3V5L5-2;Q3V5L5-5	.;.	H	84;84;95	ENSP00000301618:R84H;ENSP00000391227:R95H	ENSP00000301618:R84H	R	+	2	0	MGAT5B	72389897	1.000000	0.71417	0.953000	0.39169	0.944000	0.59088	7.814000	0.86154	2.428000	0.82296	0.561000	0.74099	CGC		0.672	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677		6	21	0	0	0	0.27861	0	6	21					A	74878302	G	A	74878302	3	1	113	1	0	0	0	0	1	0	0	0	9549	1087	38	1	362	1	MGAT5B	17	74878302	Missense_Mutation	SNP	G	TCGA-DJ-A2Q9-01A-21D-A18F-08		74878302	6316908	21	2409											
PSG4	5672	broad.mit.edu	37	chr19	43702160	43702160	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatactcacggaggagattcAgggtgactgggtcactgcgg	16	8	3	2			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr19:43702160A>G	ENST00000405312.3	-	3	935	c.698T>C	c.(697-699)cTg>cCg	p.L233P	PSG4_ENST00000433626.2_Intron|PSG4_ENST00000244295.9_Missense_Mutation_p.L233P	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	233	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GAGGAGATTCAGGGTGACTGG	0.527																																						ENST00000405312.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24						c.(697-699)cTg>cCg		pregnancy specific beta-1-glycoprotein 4							43	53	50					19																	43702160		2107	4239	6346	SO:0001583	missense	5672				defense response|female pregnancy	extracellular region		g.chr19:43702160A>G		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9521	protein-coding gene	gene with protein product	"pregnancy-specific beta-1-glycoprotein 4"	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.698T>C	19.37:g.43702160A>G	ENSP00000384770:p.Leu233Pro					PSG4_ENST00000433626.2_Intron|PSG4_ENST00000244295.9_Missense_Mutation_p.L233P	p.L233P	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN			3	935	-		Prostate(69;0.00682)	233			Ig-like C2-type 1.		E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	ENST00000405312.3	37	c.698T>C	CCDS46093.1	.	.	.	.	.	.	.	.	.	.	a	12.33	1.904836	0.33628	.	.	ENSG00000243137	ENST00000244295;ENST00000405312;ENST00000451895	T;T;T	0.19105	2.17;2.17;2.17	1.96	1.96	0.26148	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.46092	0.1375	M	0.89478	3.035	0.52501	D	0.999958	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.996	T	0.44483	-0.9325	9	0.87932	D	0	.	5.8507	0.18691	1.0:0.0:0.0:0.0	.	249;233;233	C9JWP2;Q00888-2;Q00888	.;.;PSG4_HUMAN	P	233;233;249	ENSP00000244295:L233P;ENSP00000384770:L233P;ENSP00000388134:L249P	ENSP00000244295:L233P	L	-	2	0	PSG4	48394000	0.025000	0.19082	0.236000	0.24074	0.024000	0.10985	1.403000	0.34612	0.914000	0.36822	0.341000	0.21757	CTG		0.527	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		5	300	0	0	0	0.217242	0	5	300					G	43702160	A	G	43702160	3	3	113	1	0	0	0	0	1	0	0	0	12657	188	7	3	577	3	PSG4	19	43702160	Missense_Mutation	SNP	A	TCGA-DJ-A2Q9-01A-21D-A18F-08		43702160	15426823	22	2410											
ABCB7	22	broad.mit.edu	37	chrX	74293735	74293735	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgcaactgtgaatgctgtGtatgtaccaagtgttccaag	10	8	0	1			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chrX:74293735G>T	ENST00000373394.3	-	7	919	c.912C>A	c.(910-912)taC>taA	p.Y304*	ABCB7_ENST00000534570.1_5'UTR|ABCB7_ENST00000253577.3_Nonsense_Mutation_p.Y305*|ABCB7_ENST00000339447.4_Nonsense_Mutation_p.Y264*			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	304	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						TGAATGCTGTGTATGTACCAA	0.373																																						ENST00000253577.3																			0				breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						c.(913-915)taC>taA		ATP-binding cassette, sub-family B (MDR/TAP), member 7							121	100	107					X																	74293735		2203	4300	6503	SO:0001587	stop_gained	22				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	g.chrX:74293735G>T	AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"ATP binding cassette transporters / subfamily B"	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.912C>A	X.37:g.74293735G>T	ENSP00000362492:p.Tyr304*					ABCB7_ENST00000534570.1_5'UTR|ABCB7_ENST00000373394.3_Nonsense_Mutation_p.Y304*|ABCB7_ENST00000339447.4_Nonsense_Mutation_p.Y264*	p.Y305*	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN			7	939	-			304			ABC transmembrane type-1.		G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Nonsense_Mutation	SNP	ENST00000373394.3	37	c.915C>A		.	.	.	.	.	.	.	.	.	.	G	37	6.631738	0.97722	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949	.	.	.	5.23	3.04	0.35103	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.6288	8.4544	0.32890	0.3374:0.0:0.6626:0.0	.	.	.	.	X	278;305;264;304;278	.	ENSP00000253577:Y305X	Y	-	3	2	ABCB7	74210460	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	0.742000	0.26216	0.141000	0.18875	0.506000	0.49869	TAC		0.373	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299		4	55	1	0	0.00909568	0.150653	0.0104738	4	55					T	74293735	G	T	74293735	4	4	113	1	0	0	0	0	0	1	0	0	46	1372	48	4	1386	4	ABCB7	23	74293735	Nonsense_Mutation	SNP	G	TCGA-DJ-A2Q9-01A-21D-A18F-08		74293735	80976825	23	2411											
ARHGEF2	9181	broad.mit.edu	37	chr1	155927538	155927538	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaatgacccggatccaggTgctccggtcatcccgggatg	13	13	1	2			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr1:155927538T>C	ENST00000361247.4	-	13	1780	c.1681A>G	c.(1681-1683)Acc>Gcc	p.T561A	ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.T533A|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.T606A|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.T560A|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.T533A|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.T562A	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	561	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CGGATCCAGGTGCTCCGGTCA	0.582																																					Melanoma(178;35 2768 6610 28839)	ENST00000368316.1																			0				breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40						c.(1597-1599)Acc>Gcc		Rho/Rac guanine nucleotide exchange factor (GEF) 2							104	75	85					1																	155927538		2203	4300	6503	SO:0001583	missense	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	g.chr1:155927538T>C	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	682	protein-coding gene	gene with protein product		607560	"rho/rac guanine nucleotide exchange factor (GEF) 2"			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.1681A>G	1.37:g.155927538T>C	ENSP00000354837:p.Thr561Ala					ARHGEF2_ENST00000361247.4_Missense_Mutation_p.T561A|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.T533A|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.T562A|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.T560A	p.T533A			Q92974	ARHG2_HUMAN			17	2067	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		561			PH.		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	c.1597A>G	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	T	17.23	3.336060	0.60963	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000313667	T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.86	5.28	5.28	0.74379	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.49916	D	0.000139	T	0.69133	0.3077	L	0.42245	1.32	0.40475	D	0.980385	B;P;B	0.52463	0.387;0.953;0.175	B;P;B	0.54759	0.262;0.76;0.171	T	0.70410	-0.4879	10	0.38643	T	0.18	-35.919	13.1991	0.59756	0.0:0.0:0.0:1.0	.	605;561;560	D3DVA5;Q92974;Q92974-2	.;ARHG2_HUMAN;.	A	533;561;562;533;560	ENSP00000315325:T533A;ENSP00000354837:T561A;ENSP00000357298:T562A;ENSP00000357299:T533A;ENSP00000314787:T560A	ENSP00000314787:T560A	T	-	1	0	ARHGEF2	154194162	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.389000	0.34453	2.213000	0.71641	0.528000	0.53228	ACC		0.582	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		5	57	0	0	0	0.000602	0	5	57					C	155927538	T	C	155927538	3	2	114	1	0	0	0	0	1	0	0	0	903	1696	59	3	1319	3	ARHGEF2	1	155927538	Missense_Mutation	SNP	T	TCGA-DJ-A2QA-01A-11D-A18F-08		155927538	93323083	1	2412											
CRP	1401	broad.mit.edu	37	chr1	159683396	159683396	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagttcaggacattaggactGaagggcccgccaagatagat	12	9	1	3			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr1:159683396G>A	ENST00000255030.5	-	2	697	c.594C>T	c.(592-594)ttC>ttT	p.F198F	CRP_ENST00000368110.1_Silent_p.F76F|CRP_ENST00000437342.1_Silent_p.F20F|CRP_ENST00000473196.1_5'UTR|CRP_ENST00000368111.1_Silent_p.F76F|CRP_ENST00000368112.1_Intron|CRP_ENST00000343919.2_Silent_p.F76F	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	198	Pentaxin.				acute-phase response (GO:0006953)|aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|complement activation, classical pathway (GO:0006958)|defense response to Gram-positive bacterium (GO:0050830)|inflammatory response (GO:0006954)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|opsonization (GO:0008228)|positive regulation of dendrite development (GO:1900006)|protein polymerization (GO:0051258)|regulation of interleukin-8 secretion (GO:2000482)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lead ion (GO:0010288)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)	calcium ion binding (GO:0005509)|cholesterol binding (GO:0015485)|choline binding (GO:0033265)|complement component C1q binding (GO:0001849)|low-density lipoprotein particle binding (GO:0030169)			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				inhaled insulin(DB05278)	CATTAGGACTGAAGGGCCCGC	0.542																																						ENST00000255030.5																			0				breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22						c.(592-594)ttC>ttT		C-reactive protein, pentraxin-related	Atorvastatin(DB01076)|Bezafibrate(DB01393)						76	78	77					1																	159683396		2203	4300	6503	SO:0001819	synonymous_variant	1401				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding	g.chr1:159683396G>A	M11725	CCDS30911.1	1q23.2	2013-05-13			ENSG00000132693	ENSG00000132693			2367	protein-coding gene	gene with protein product	"pentraxin 1"	123260				3840479, 6857266	Standard	NM_000567		Approved	PTX1	uc001ftw.3	P02741	OTTHUMG00000035344	ENST00000255030.5:c.594C>T	1.37:g.159683396G>A						CRP_ENST00000343919.2_Silent_p.F76F|CRP_ENST00000368111.1_Silent_p.F76F|CRP_ENST00000437342.1_Silent_p.F20F|CRP_ENST00000368112.1_Intron|CRP_ENST00000473196.1_5'UTR|CRP_ENST00000368110.1_Silent_p.F76F	p.F198F	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN			2	697	-	all_hematologic(112;0.0429)		198			Pentaxin.		A8K078|D3DVD9|D3DVE0|Q08AK3|Q8WW75	Silent	SNP	ENST00000255030.5	37	c.594C>T	CCDS30911.1																																																																																				0.542	CRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085553.1	NM_000567		31	101	0	0	0	0.002445	0	31	101					A	159683396	G	A	159683396	2	1	114	1	0	0	0	0	0	0	0	1	3895	1281	45	2		2	CRP	1	159683396	Silent	SNP	G	TCGA-DJ-A2QA-01A-11D-A18F-08	3755858	159683396	89567225	2	2413											
APOB	338	broad.mit.edu	37	chr2	21229161	21229161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagcttcactgaagaccGtgtgctcttggaattcaagt	10	10	3	2	rs144467873	byFrequency	TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr2:21229161G>A	ENST00000233242.1	-	26	10706	c.10579C>T	c.(10579-10581)Cgg>Tgg	p.R3527W		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3527			R -> Q (in FDB; dbSNP:rs5742904). {ECO:0000269|PubMed:21382890, ECO:0000269|PubMed:2563166, ECO:0000269|PubMed:9259199}.		artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTGAAGACCGTGTGCTCTTG	0.433													G|||	2	0.000399361	0	0	5008	,	,		21124	0.001		0	False		,,,				2504	0.001					ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	GRCh37	CM950075	APOB	M	rs144467873	c.(10579-10581)Cgg>Tgg		apolipoprotein B	Atorvastatin(DB01076)	G	TRP/ARG	0,4406		0,0,2203	132	135	134		10579	5.0	0.9	2	dbSNP_134	134	1,8599	1.2+/-3.3	0,1,4299	no	missense	APOB	NM_000384.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	3527/4564	21229161	1,13005	2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21229161G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.10579C>T	2.37:g.21229161G>A	ENSP00000233242:p.Arg3527Trp						p.R3527W	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	10706	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3527		R -> Q (in FDB; dbSNP:rs5742904).			O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.10579C>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822054	0.50739	0.0	1.16E-4	ENSG00000084674	ENST00000233242;ENST00000535079	D	0.81499	-1.5	5.85	4.97	0.65823	.	0.000000	0.52532	D	0.000076	D	0.89220	0.6653	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90473	0.4454	10	0.87932	D	0	.	14.0194	0.64545	0.0:0.0:0.7246:0.2754	.	3527	P04114	APOB_HUMAN	W	3527	ENSP00000233242:R3527W	ENSP00000233242:R3527W	R	-	1	2	APOB	21082666	1.000000	0.71417	0.920000	0.36463	0.571000	0.35966	3.962000	0.56766	1.462000	0.47948	0.655000	0.94253	CGG		0.433	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			4	139	0	0	0	0.000602	0	4	139					A	21229161	G	A	21229161	3	1	114	1	0	0	0	0	1	0	0	0	785	1144	40	1	3128	1	APOB	2	21229161	Missense_Mutation	SNP	G	TCGA-DJ-A2QA-01A-11D-A18F-08		21229161	221970212	3	2414											
RALB	5899	broad.mit.edu	37	chr2	121050797	121050797	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aatggcaagaaaagcagcaaGaacaagaaaagttttaaaga	9	4	0	4			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr2:121050797G>A	ENST00000272519.5	+	5	852	c.582G>A	c.(580-582)aaG>aaA	p.K194K	RALB_ENST00000404963.3_Silent_p.K215K|RALB_ENST00000420510.1_Silent_p.K194K|RALB_ENST00000470417.1_3'UTR|RALB_ENST00000474855.2_Silent_p.K216K	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	194					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of exocyst assembly (GO:0001928)|regulation of exocyst localization (GO:0060178)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				AAAGCAGCAAGAACAAGAAAA	0.423																																						ENST00000272519.5																			0				endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(580-582)aaG>aaA		v-ral simian leukemia viral oncogene homolog B							111	109	109					2																	121050797		2203	4300	6503	SO:0001819	synonymous_variant	5899				apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization	cytosol|midbody|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr2:121050797G>A		CCDS2131.1	2q14.2	2014-05-09	2013-07-09		ENSG00000144118	ENSG00000144118			9840	protein-coding gene	gene with protein product	"ras related GTP binding protein B"	179551					Standard	NM_002881		Approved		uc002tmk.3	P11234	OTTHUMG00000131435	ENST00000272519.5:c.582G>A	2.37:g.121050797G>A						RALB_ENST00000470417.1_3'UTR|RALB_ENST00000420510.1_Silent_p.K194K|RALB_ENST00000404963.3_Silent_p.K215K|RALB_ENST00000474855.2_Silent_p.K216K	p.K194K	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN			5	852	+		Prostate(154;0.122)	194					B4E040|Q53T32|Q6ZS74	Silent	SNP	ENST00000272519.5	37	c.582G>A	CCDS2131.1																																																																																				0.423	RALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254232.3	NM_002881		5	38	0	0	0	0.000602	0	5	38					A	121050797	G	A	121050797	2	1	114	1	0	0	0	0	0	0	0	1	13011	933	33	2		2	RALB	2	121050797	Silent	SNP	G	TCGA-DJ-A2QA-01A-11D-A18F-08	99821636	121050797	122148576	4	2415											
TTLL4	9654	broad.mit.edu	37	chr2	219603432	219603432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccgtgaggaaattgaccGcaagaggctttgagaagatg	15	6	0	5	rs138326187	byFrequency	TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr2:219603432G>A	ENST00000392102.1	+	3	1373	c.1033G>A	c.(1033-1035)Gca>Aca	p.A345T	TTLL4_ENST00000457313.1_Missense_Mutation_p.A180T|TTLL4_ENST00000442769.1_Missense_Mutation_p.A345T|TTLL4_ENST00000258398.4_Missense_Mutation_p.A345T	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	345					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GAAATTGACCGCAAGAGGCTT	0.542																																					GBM(172;1818 2053 15407 20943 49753)	ENST00000392102.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39						c.(1033-1035)Gca>Aca		tubulin tyrosine ligase-like family, member 4							100	97	98					2																	219603432		2203	4300	6503	SO:0001583	missense	9654				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr2:219603432G>A		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"Tubulin tyrosine ligase-like family"	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.1033G>A	2.37:g.219603432G>A	ENSP00000375951:p.Ala345Thr					TTLL4_ENST00000258398.4_Missense_Mutation_p.A345T|TTLL4_ENST00000457313.1_Missense_Mutation_p.A180T|TTLL4_ENST00000442769.1_Missense_Mutation_p.A345T	p.A345T	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)	3	1373	+		Renal(207;0.0915)	345					A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	c.1033G>A	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	G	4.815	0.151619	0.09185	.	.	ENSG00000135912	ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398	T;T;T;T	0.04970	3.74;3.99;3.52;3.99	4.57	0.74	0.18330	.	0.607687	0.14727	N	0.301996	T	0.03263	0.0095	L	0.29908	0.895	0.09310	N	1	P;B;P	0.44006	0.824;0.016;0.824	B;B;B	0.30646	0.086;0.004;0.118	T	0.43196	-0.9406	10	0.41790	T	0.15	.	4.2768	0.10813	0.3392:0.0:0.5099:0.1509	.	180;345;345	E9PH58;E7EX20;Q14679	.;.;TTLL4_HUMAN	T	180;345;345;345	ENSP00000393332:A180T;ENSP00000375951:A345T;ENSP00000396555:A345T;ENSP00000258398:A345T	ENSP00000258398:A345T	A	+	1	0	TTLL4	219311676	0.408000	0.25360	0.177000	0.23020	0.013000	0.08279	1.559000	0.36320	-0.047000	0.13423	-1.114000	0.02060	GCA		0.542	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		4	109	0	0	0	0.000248	0	4	109					A	219603432	G	A	219603432	3	1	114	1	0	0	0	0	1	0	0	0	16726	1087	38	1	1035	1	TTLL4	2	219603432	Missense_Mutation	SNP	G	TCGA-DJ-A2QA-01A-11D-A18F-08	98552635	219603432	23595941	5	2416											
KIAA0947	23379	broad.mit.edu	37	chr5	5463854	5463854	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtgacttctgctgagaaGtccccagaggccagtcacac	10	14	2	3	rs201276348		TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr5:5463854G>A	ENST00000296564.7	+	13	4629	c.4407G>A	c.(4405-4407)aaG>aaA	p.K1469K		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1469					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CTGCTGAGAAGTCCCCAGAGG	0.522																																						ENST00000296564.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(4405-4407)aaG>aaA		KIAA0947							88	85	86					5																	5463854		1921	4129	6050	SO:0001819	synonymous_variant	23379							g.chr5:5463854G>A																												ENST00000296564.7:c.4407G>A	5.37:g.5463854G>A							p.K1469K	NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN			13	4629	+			1469					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	ENST00000296564.7	37	c.4407G>A	CCDS47187.1																																																																																				0.522	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			4	112	0	0	0	0.000602	0	4	112					A	5463854	G	A	5463854	2	1	114	1	0	0	0	0	0	0	0	1	8202	1020	36	2		2	KIAA0947	5	5463854	Silent	SNP	G	TCGA-DJ-A2QA-01A-11D-A18F-08		5463854	175451406	6	2417											
PTGER4	5734	broad.mit.edu	37	chr5	40681232	40681232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggtgctgtgcaagtcgcGcaaggagcagaaggagacga	17	8	0	2			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr5:40681232G>A	ENST00000302472.3	+	2	1161	c.137G>A	c.(136-138)cGc>cAc	p.R46H	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	46					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	TGCAAGTCGCGCAAGGAGCAG	0.627											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000302472.3																			0				breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(136-138)cGc>cAc		prostaglandin E receptor 4 (subtype EP4)							72	63	66					5																	40681232		2203	4300	6503	SO:0001583	missense	5734				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	g.chr5:40681232G>A	L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"GPCR / Class A : Prostanoid receptors"	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.137G>A	5.37:g.40681232G>A	ENSP00000302846:p.Arg46His		OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	895	PTGER4_ENST00000514343.1_3'UTR	p.R46H	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN			2	1161	+			46					Q3MJ87	Missense_Mutation	SNP	ENST00000302472.3	37	c.137G>A	CCDS3930.1	.	.	.	.	.	.	.	.	.	.	G	36	5.603239	0.96614	.	.	ENSG00000171522	ENST00000302472	T	0.19669	2.13	5.37	5.37	0.77165	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.54382	0.1855	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.61686	-0.7012	10	0.66056	D	0.02	-25.0634	19.1085	0.93307	0.0:0.0:1.0:0.0	.	46	P35408	PE2R4_HUMAN	H	46	ENSP00000302846:R46H	ENSP00000302846:R46H	R	+	2	0	PTGER4	40716989	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.950000	0.87804	2.528000	0.85240	0.462000	0.41574	CGC		0.627	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211578.2	NM_000958		4	76	0	0	0	0.000248	0	4	76					A	40681232	G	A	40681232	3	1	114	1	0	0	0	0	1	0	0	0	12745	1087	38	1	139	1	PTGER4	5	40681232	Missense_Mutation	SNP	G	TCGA-DJ-A2QA-01A-11D-A18F-08	35217378	40681232	140234028	7	2418											
FRS3	10817	broad.mit.edu	37	chr6	41738433	41738433	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggcagagctctctgcaggTtggacatggccacggtcttt	15	10	2	1			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr6:41738433T>C	ENST00000373018.3	-	7	1654	c.1403A>G	c.(1402-1404)aAc>aGc	p.N468S	FRS3_ENST00000259748.2_Missense_Mutation_p.N468S	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	468					fibroblast growth factor receptor signaling pathway (GO:0008543)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCTCTGCAGGTTGGACATGGC	0.637																																						ENST00000373018.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1402-1404)aAc>aGc		fibroblast growth factor receptor substrate 3							100	95	97					6																	41738433		2203	4300	6503	SO:0001583	missense	10817				fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding	g.chr6:41738433T>C	AF036718	CCDS4860.1	6p21.1	2010-08-05			ENSG00000137218	ENSG00000137218			16970	protein-coding gene	gene with protein product		607744				8761293, 9660748	Standard	NM_006653		Approved	SNT-2, FRS2beta, FRS2B	uc003orc.1	O43559	OTTHUMG00000014686	ENST00000373018.3:c.1403A>G	6.37:g.41738433T>C	ENSP00000362109:p.Asn468Ser					FRS3_ENST00000259748.2_Missense_Mutation_p.N468S	p.N468S	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		7	1654	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		468					Q5T3D5	Missense_Mutation	SNP	ENST00000373018.3	37	c.1403A>G	CCDS4860.1	.	.	.	.	.	.	.	.	.	.	T	4.880	0.163576	0.09287	.	.	ENSG00000137218	ENST00000373018;ENST00000259748	T;T	0.22743	1.94;1.94	5.55	-0.326	0.12698	.	0.312847	0.42548	N	0.000700	T	0.01765	0.0056	N	0.02539	-0.55	0.37471	D	0.915624	B	0.02656	0.0	B	0.01281	0.0	T	0.35025	-0.9805	10	0.14252	T	0.57	-15.5291	4.7731	0.13166	0.1445:0.3987:0.0:0.4568	.	468	O43559	FRS3_HUMAN	S	468	ENSP00000362109:N468S;ENSP00000259748:N468S	ENSP00000259748:N468S	N	-	2	0	FRS3	41846411	0.996000	0.38824	1.000000	0.80357	0.995000	0.86356	0.369000	0.20416	0.394000	0.25230	0.529000	0.55759	AAC		0.637	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040532.2	NM_006653		6	99	0	0	0	0.001168	0	6	99					C	41738433	T	C	41738433	3	2	114	1	0	0	0	0	1	0	0	0	6062	1725	60	3	79	3	FRS3	6	41738433	Missense_Mutation	SNP	T	TCGA-DJ-A2QA-01A-11D-A18F-08		41738433	129376634	8	2419											
SNX3	8724	broad.mit.edu	37	chr6	108581972	108581972	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agacggcctcaccttgacccTgatttcgtaagtggtgaagc	11	11	1	4			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr6:108581972T>C	ENST00000230085.8	-	1	492	c.154A>G	c.(154-156)Agg>Ggg	p.R52G	SNX3_ENST00000349379.5_Intron|SNX3_ENST00000426155.2_Missense_Mutation_p.R52G|SNX3_ENST00000368982.4_Missense_Mutation_p.R52G	NM_003795.4	NP_003786.1	O60493	SNX3_HUMAN	sorting nexin 3	52	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				hemoglobin biosynthetic process (GO:0042541)|intracellular protein transport (GO:0006886)|intralumenal vesicle formation (GO:0070676)|membrane invagination (GO:0010324)|negative regulation of early endosome to late endosome transport (GO:2000642)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein transport (GO:0051224)|negative regulation of viral entry into host cell (GO:0046597)|regulation of cellular protein metabolic process (GO:0032268)|regulation of intracellular protein transport (GO:0033157)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein phosphatase binding (GO:0019903)			large_intestine(1)	1		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0136)|Epithelial(106;0.0564)|OV - Ovarian serous cystadenocarcinoma(136;0.0717)|all cancers(137;0.0743)		ACCTTGACCCTGATTTCGTAA	0.662																																						ENST00000230085.8																			0				large_intestine(1)	1						c.(154-156)Agg>Ggg		sorting nexin 3							50	56	54					6																	108581972		2203	4300	6503	SO:0001583	missense	8724				cell communication|endocytosis|protein transport	early endosome|endosome membrane	phosphatidylinositol-3-phosphate binding|protein phosphatase binding	g.chr6:108581972T>C	AF034546	CCDS5064.1, CCDS5065.1, CCDS75501.1	6q21	2010-08-05			ENSG00000112335	ENSG00000112335		"Sorting nexins"	11174	protein-coding gene	gene with protein product		605930				9819414	Standard	XM_005267192		Approved	Grd19	uc003psh.3	O60493	OTTHUMG00000015323	ENST00000230085.8:c.154A>G	6.37:g.108581972T>C	ENSP00000230085:p.Arg52Gly					SNX3_ENST00000368982.4_Missense_Mutation_p.R52G|SNX3_ENST00000349379.5_Intron|SNX3_ENST00000426155.2_Missense_Mutation_p.R52G	p.R52G	NM_003795.4	NP_003786.1	O60493	SNX3_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0136)|Epithelial(106;0.0564)|OV - Ovarian serous cystadenocarcinoma(136;0.0717)|all cancers(137;0.0743)	1	492	-		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)	52			PX.		A8K0B1|E1P5E4|E1P5E5|O60718|Q4TT29|Q4TT31|Q5JXJ7|Q5JXJ8|Q96AP9|Q9C0J5|Q9NU45	Missense_Mutation	SNP	ENST00000230085.8	37	c.154A>G	CCDS5064.1	.	.	.	.	.	.	.	.	.	.	T	15.12	2.740230	0.49045	.	.	ENSG00000112335	ENST00000230085;ENST00000426155;ENST00000368982	T;T;T	0.40756	1.02;1.24;1.02	5.37	2.73	0.32206	Phox homologous domain (5);	0.213426	0.46145	D	0.000301	T	0.55481	0.1923	M	0.93328	3.405	0.53005	D	0.999965	P;B	0.34462	0.454;0.333	B;P	0.48901	0.22;0.594	T	0.64474	-0.6399	10	0.62326	D	0.03	-32.5525	12.6699	0.56862	0.0:0.0:0.4488:0.5512	.	52;52	O60493-2;O60493	.;SNX3_HUMAN	G	52	ENSP00000230085:R52G;ENSP00000401779:R52G;ENSP00000357978:R52G	ENSP00000230085:R52G	R	-	1	2	SNX3	108688665	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.664000	0.46783	0.827000	0.34685	0.459000	0.35465	AGG		0.662	SNX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041717.1			3	56	0	0	0	0.004672	0	3	56					C	108581972	T	C	108581972	3	2	114	1	0	0	0	0	1	0	0	0	14899	1579	55	3	350	3	SNX3	6	108581972	Missense_Mutation	SNP	T	TCGA-DJ-A2QA-01A-11D-A18F-08	66843539	108581972	62533095	9	2420											
SNX13	23161	broad.mit.edu	37	chr7	17855871	17855872	+	Frame_Shift_Ins	INS	-	-	T													tatccatattattaaaagtcINSttttttccaggaagtttcaa							TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr7:17855871_17855872insT	ENST00000409389.1	-	19	2091_2092	c.1919_1920insA	c.(1918-1920)aagfs	p.K640fs	SNX13_ENST00000428135.3_Frame_Shift_Ins_p.K629fs|SNX13_ENST00000496855.1_5'UTR			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	640	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TATTAAAAGTCTTTTTTCCAGG	0.292																																						ENST00000409389.1																			0				breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1918-1920)aacfs		sorting nexin 13																																				SO:0001589	frameshift_variant	23161				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr7:17855871_17855872insT	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"Sorting nexins"	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.1920dupA	7.37:g.17855877_17855877dupT	ENSP00000386705:p.Lys640fs					SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Frame_Shift_Ins_p.N629fs	p.N640fs			Q9Y5W8	SNX13_HUMAN			19	2091_2092	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)		640			PX.		B2RCI9|O94821|Q8WVZ2|Q8WXH8	Frame_Shift_Ins	INS	ENST00000409389.1	37	c.1919_1920insA																																																																																					0.292	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132		2	4						2	4	---	---	---	---	T	17855872	-	T	17855871	7	5	114	1	0	1	1	0	0	0	0	0	14884	912	32	0	1018	0	SNX13	7	17855871	Frame_Shift_Ins	INS	-	TCGA-DJ-A2QA-01A-11D-A18F-08		17855871	141282792	10	2421											
KCND2	3751	broad.mit.edu	37	chr7	119914768	119914768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggcctcggggcctatgCcggctcccccgaggcaggag	16	15	0	0			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr7:119914768C>T	ENST00000331113.4	+	1	1047	c.82C>T	c.(82-84)Ccg>Tcg	p.P28S		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	28					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GGGGCCTATGCCGGCTCCCCC	0.632																																						ENST00000331113.4																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(82-84)Ccg>Tcg		potassium voltage-gated channel, Shal-related subfamily, member 2							95	112	106					7																	119914768		2203	4300	6503	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119914768C>T	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.82C>T	7.37:g.119914768C>T	ENSP00000333496:p.Pro28Ser						p.P28S	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN			1	1047	+	all_neural(327;0.117)		28					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.82C>T	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617767	0.87359	.	.	ENSG00000184408	ENST00000331113	D	0.97352	-4.35	5.51	5.51	0.81932	Shal-type voltage-gated potassium channels (1);	0.000000	0.85682	D	0.000000	D	0.98201	0.9405	M	0.83953	2.67	0.80722	D	1	D	0.54397	0.966	P	0.58013	0.831	D	0.98356	1.0546	9	.	.	.	.	19.427	0.94746	0.0:1.0:0.0:0.0	.	28	Q9NZV8	KCND2_HUMAN	S	28	ENSP00000333496:P28S	.	P	+	1	0	KCND2	119702004	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.603000	0.88011	0.655000	0.94253	CCG		0.632	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		5	242	0	0	0	0.000602	0	5	242					T	119914768	C	T	119914768	3	4	114	1	0	0	0	0	1	0	0	0	8019	739	26	2	84	2	KCND2	7	119914768	Missense_Mutation	SNP	C	TCGA-DJ-A2QA-01A-11D-A18F-08	102058897	119914768	39223895	11	2422											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		22	56	0	0	0	0.005443	0	22	56					T	140453136	A	T	140453136	3	4	114	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2QA-01A-11D-A18F-08	20538368	140453136	18685527	12	2423											
MLL3	58508	broad.mit.edu	37	chr7	151864343	151864343	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggcagtacgttgtttagctGaaagggccttcttagatttt	11	6	1	2			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr7:151864343G>A	ENST00000262189.6	-	42	9856	c.9638C>T	c.(9637-9639)tCa>tTa	p.S3213L	KMT2C_ENST00000355193.2_Missense_Mutation_p.S3213L	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3213	Gln-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TTGTTTAGCTGAAAGGGCCTT	0.443																																						ENST00000355193.2																			0											c.(9637-9639)tCa>tTa		lysine (K)-specific methyltransferase 2C							140	132	135					7																	151864343		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151864343G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.9638C>T	7.37:g.151864343G>A	ENSP00000262189:p.Ser3213Leu					KMT2C_ENST00000262189.6_Missense_Mutation_p.S3213L	p.S3213L							42	9856	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.9638C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594193	0.86953	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84800	-1.89;-1.9	5.83	5.83	0.93111	.	0.000000	0.39407	N	0.001378	D	0.87188	0.6115	N	0.14661	0.345	0.80722	D	1	D;P;D	0.89917	0.994;0.773;1.0	D;P;D	0.85130	0.983;0.841;0.997	D	0.88386	0.3005	10	0.52906	T	0.07	.	20.115	0.97926	0.0:0.0:1.0:0.0	.	3213;2274;3213	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	L	3213	ENSP00000262189:S3213L;ENSP00000347325:S3213L	ENSP00000262189:S3213L	S	-	2	0	MLL3	151495276	1.000000	0.71417	0.992000	0.48379	0.918000	0.54935	9.813000	0.99286	2.761000	0.94854	0.650000	0.86243	TCA		0.443	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			36	97	0	0	0	0.003271	0	36	97					A	151864343	G	A	151864343	3	1	114	1	0	0	0	0	1	0	0	0	9622	1294	45	2	5169	2	MLL3	7	151864343	Missense_Mutation	SNP	G	TCGA-DJ-A2QA-01A-11D-A18F-08	11411207	151864343	7274320	13	2424											
TBC1D12	23232	broad.mit.edu	37	chr10	96162370	96162370	+	De_novo_Start_InFrame	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcggccgccacccacccccaGatggtgggtccggaggatgc	15	16	0	1			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr10:96162370G>A	ENST00000225235.4	+	0	110					NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12								Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCCACCCCCAGATGGTGGGTC	0.697																																						ENST00000225235.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20								TBC1 domain family, member 12							13	14	14					10																	96162370		1622	3714	5336			23232					intracellular	Rab GTPase activator activity	g.chr10:96162370G>A	AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794		10.37:g.96162370G>A								NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN			0	110	+		Colorectal(252;0.0429)						Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Translation_Start_Site	SNP	ENST00000225235.4	37		CCDS41553.1																																																																																				0.697	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2			9	21	0	0	0	0.006214	0	9	21					A	96162370	G	A	96162370	1	1	114	1	0	1	0	0	0	0	0	0	15598	957	33	2		2	TBC1D12	10	96162370	De_novo_Start_InFrame	SNP	G	TCGA-DJ-A2QA-01A-11D-A18F-08		96162370	39372377	14	2425											
RAB3IP	117177	broad.mit.edu	37	chr12	70149196	70149196	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaggcttttgctatggctaAtgatcccttggaaggcttcc	11	9	0	2			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr12:70149196A>G	ENST00000247833.7	+	2	384	c.8A>G	c.(7-9)aAt>aGt	p.N3S	RAB3IP_ENST00000483530.2_Missense_Mutation_p.N3S|RAB3IP_ENST00000550536.1_Missense_Mutation_p.N19S|RAB3IP_ENST00000378815.6_Missense_Mutation_p.N3S|RAB3IP_ENST00000362025.5_Missense_Mutation_p.N19S|RAB3IP_ENST00000325555.9_5'UTR					RAB3A interacting protein											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			GCTATGGCTAATGATCCCTTG	0.353																																						ENST00000550536.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(55-57)aAt>aGt		RAB3A interacting protein							97	88	91					12																	70149196		2203	4300	6503	SO:0001583	missense	117177				cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding	g.chr12:70149196A>G		CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328			16508	protein-coding gene	gene with protein product	"rabin3"	608686					Standard	NM_175623		Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000247833.7:c.8A>G	12.37:g.70149196A>G	ENSP00000247833:p.Asn3Ser					RAB3IP_ENST00000483530.2_Missense_Mutation_p.N3S|RAB3IP_ENST00000247833.7_Missense_Mutation_p.N3S|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000378815.6_Missense_Mutation_p.N3S|RAB3IP_ENST00000362025.5_Missense_Mutation_p.N19S	p.N19S	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)		2	513	+	Esophageal squamous(21;0.187)		19						Missense_Mutation	SNP	ENST00000247833.7	37	c.56A>G	CCDS8995.1	.	.	.	.	.	.	.	.	.	.	A	10.90	1.480955	0.26598	.	.	ENSG00000127328	ENST00000247833;ENST00000378815;ENST00000483530;ENST00000549760;ENST00000550536;ENST00000362025	T;T	0.41400	1.02;1.0	5.93	4.79	0.61399	.	0.296133	0.40064	N	0.001187	T	0.19805	0.0476	N	0.08118	0	0.80722	D	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.001	B;B;B;B	0.06405	0.001;0.001;0.002;0.002	T	0.06899	-1.0801	10	0.13470	T	0.59	.	7.8778	0.29603	0.7694:0.0:0.2306:0.0	.	19;19;3;3	Q96QF0-4;Q96QF0;Q96QF0-3;Q96QF0-7	.;RAB3I_HUMAN;.;.	S	3;3;3;3;19;19	ENSP00000247833:N3S;ENSP00000447300:N19S	ENSP00000247833:N3S	N	+	2	0	RAB3IP	68435463	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.418000	0.52721	1.077000	0.40990	0.533000	0.62120	AAT		0.353	RAB3IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280671.2	NM_022456		3	66	0	0	0	0.004672	0	3	66					G	70149196	A	G	70149196	3	3	114	1	0	0	0	0	1	0	0	0	12938	101	4	3	62	3	RAB3IP	12	70149196	Missense_Mutation	SNP	A	TCGA-DJ-A2QA-01A-11D-A18F-08		70149196	63702699	15	2426											
PDS5B	23047	broad.mit.edu	37	chr13	33315257	33315257	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctaaactttgggttccagatGaagaagtatctcctgagaca	9	8	1	4			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr13:33315257G>A	ENST00000315596.10	+	22	2632	c.2446G>A	c.(2446-2448)Gaa>Aaa	p.E816K		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	816					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		GGTTCCAGATGAAGAAGTATC	0.289																																						ENST00000315596.10																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62						c.(2446-2448)Gaa>Aaa		PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)							101	93	96					13																	33315257		1807	4062	5869	SO:0001583	missense	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33315257G>A	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"androgen-induced proliferation inhibitor"	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.2446G>A	13.37:g.33315257G>A	ENSP00000313851:p.Glu816Lys						p.E816K	NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	22	2632	+		Lung SC(185;0.0367)	816					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	c.2446G>A	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.914279	0.92178	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	.	.	.	5.78	5.78	0.91487	Armadillo-like helical (1);Armadillo-type fold (1);	0.092724	0.85682	D	0.000000	T	0.54062	0.1835	L	0.38175	1.15	0.80722	D	1	P	0.37663	0.604	B	0.40066	0.318	T	0.51044	-0.8755	9	0.37606	T	0.19	-5.0161	19.0003	0.92830	0.0:0.0:1.0:0.0	.	816	Q9NTI5	PDS5B_HUMAN	K	816	.	ENSP00000313851:E816K	E	+	1	0	PDS5B	32213257	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.095000	0.94175	2.735000	0.93741	0.655000	0.94253	GAA		0.289	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		21	61	0	0	0	0.001523	0	21	61					A	33315257	G	A	33315257	3	1	114	1	0	0	0	0	1	0	0	0	11692	1291	45	2	2528	2	PDS5B	13	33315257	Missense_Mutation	SNP	G	TCGA-DJ-A2QA-01A-11D-A18F-08		33315257	81854621	16	2427											
SOS2	6655	broad.mit.edu	37	chr14	50671054	50671054	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgcataatttattaagcagcTgaaaaatcagctcttcaata	5	7	3	1			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr14:50671054T>A	ENST00000216373.5	-	2	435	c.161A>T	c.(160-162)cAg>cTg	p.Q54L	SOS2_ENST00000543680.1_Missense_Mutation_p.Q54L	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	54					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					ATTAAGCAGCTGAAAAATCAG	0.348																																						ENST00000216373.5																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39						c.(160-162)cAg>cTg		son of sevenless homolog 2 (Drosophila)							144	155	151					14																	50671054		2203	4300	6503	SO:0001583	missense	6655				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr14:50671054T>A	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11188	protein-coding gene	gene with protein product		601247	"son of sevenless (Drosophilia) homolog 2"			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.161A>T	14.37:g.50671054T>A	ENSP00000216373:p.Gln54Leu					SOS2_ENST00000543680.1_Missense_Mutation_p.Q54L	p.Q54L	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN			2	435	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		54					B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	c.161A>T	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	T	12.18	1.861232	0.32884	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	D;D	0.84730	-1.89;-1.89	5.29	5.29	0.74685	Histone-fold (1);	0.000000	0.85682	D	0.000000	T	0.80763	0.4685	L	0.41236	1.265	0.58432	D	0.999992	B;B	0.15473	0.004;0.013	B;B	0.10450	0.002;0.005	T	0.76822	-0.2817	10	0.49607	T	0.09	.	15.534	0.75986	0.0:0.0:0.0:1.0	.	54;54	B7ZKT6;Q07890	.;SOS2_HUMAN	L	54	ENSP00000216373:Q54L;ENSP00000445328:Q54L	ENSP00000216373:Q54L	Q	-	2	0	SOS2	49740804	1.000000	0.71417	1.000000	0.80357	0.227000	0.25037	6.161000	0.71868	2.106000	0.64143	0.533000	0.62120	CAG		0.348	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			4	244	0	0	0	0.000248	0	4	244					A	50671054	T	A	50671054	3	1	114	1	0	0	0	0	1	0	0	0	14937	1580	55	5	3925	5	SOS2	14	50671054	Missense_Mutation	SNP	T	TCGA-DJ-A2QA-01A-11D-A18F-08		50671054	56678486	17	2428											
ITGB3	3690	broad.mit.edu	37	chr17	45367119	45367119	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atttgatctttgcagtgactGaaaatgtagtcaatctctat	7	6	3	3			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr17:45367119G>A	ENST00000559488.1	+	7	1028	c.1012G>A	c.(1012-1014)Gaa>Aaa	p.E338K	ITGB3_ENST00000435993.2_Missense_Mutation_p.E291K|ITGB3_ENST00000571680.1_Missense_Mutation_p.E338K|ITGB3_ENST00000560629.1_Silent_p.*326*	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	338	VWFA.				activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	TGCAGTGACTGAAAATGTAGT	0.483																																						ENST00000559488.1																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39						c.(1012-1014)Gaa>Aaa		integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	Abciximab(DB00054)|Tirofiban(DB00775)						143	126	132					17																	45367119		2203	4300	6503	SO:0001583	missense	3690				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr17:45367119G>A		CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"CD molecules", "Integrins"	6156	protein-coding gene	gene with protein product	"platelet glycoprotein IIIa"	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.1012G>A	17.37:g.45367119G>A	ENSP00000452786:p.Glu338Lys					ITGB3_ENST00000571680.1_Missense_Mutation_p.E338K|ITGB3_ENST00000435993.2_Missense_Mutation_p.E291K|ITGB3_ENST00000560629.1_Silent_p.*326*	p.E338K	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN			7	1028	+			338			VWFA.		A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	ENST00000559488.1	37	c.1012G>A	CCDS11511.1	.	.	.	.	.	.	.	.	.	.	G	7.382	0.629045	0.14257	.	.	ENSG00000178852	ENST00000262017;ENST00000435993	D	0.97620	-4.46	5.3	-0.849	0.10723	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.516425	0.23556	N	0.046908	D	0.87601	0.6218	N	0.08118	0	0.22489	N	0.999052	B;B	0.28128	0.081;0.201	B;B	0.25884	0.04;0.064	T	0.80933	-0.1161	10	0.10902	T	0.67	.	5.4575	0.16598	0.3529:0.365:0.282:0.0	.	338;338	P05106;Q2YFE1	ITB3_HUMAN;.	K	338;291	ENSP00000407801:E291K	ENSP00000262017:E338K	E	+	1	0	C17orf57	42722118	0.003000	0.15002	0.998000	0.56505	0.996000	0.88848	0.543000	0.23237	0.208000	0.20626	0.462000	0.41574	GAA		0.483	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212		21	35	0	0	0	0.001882	0	21	35					A	45367119	G	A	45367119	3	1	114	1	0	0	0	0	1	0	0	0	7895	1291	45	2	1038	2	ITGB3	17	45367119	Missense_Mutation	SNP	G	TCGA-DJ-A2QA-01A-11D-A18F-08		45367119	35828091	18	2429											
MKS1	54903	broad.mit.edu	37	chr17	56283864	56283864	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaagcggaaggtgacagtGcctgtggtctctgtgcggag	17	8	1	1			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr17:56283864G>A	ENST00000393119.2	-	16	1526	c.1452C>T	c.(1450-1452)ggC>ggT	p.G484G	MKS1_ENST00000537529.2_Silent_p.G474G|MKS1_ENST00000546108.1_Silent_p.G281G|MKS1_ENST00000337050.7_Splice_Site_p.A470V|MKS1_ENST00000313863.6_Intron	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	484					branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGGTGACAGTGCCTGTGGTCT	0.617																																						ENST00000337050.7																			0				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.e16-1		Meckel syndrome, type 1							91	101	97					17																	56283864		2137	4249	6386	SO:0001819	synonymous_variant	54903				cilium assembly	centrosome|cilium|microtubule basal body	protein binding	g.chr17:56283864G>A	DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"POC12 centriolar protein homolog (Chlamydomonas)"	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.1452C>T	17.37:g.56283864G>A						MKS1_ENST00000393119.2_Silent_p.G484G|MKS1_ENST00000537529.2_Silent_p.G474G|MKS1_ENST00000313863.6_Intron|MKS1_ENST00000546108.1_Silent_p.G281G	p.A470_splice			Q9NXB0	MKS1_HUMAN			16	1418	-			0					B7WNX4|F5H885|Q284T0|Q96G13	Splice_Site	SNP	ENST00000393119.2	37	c.1407_splice	CCDS11603.2	.	.	.	.	.	.	.	.	.	.	G	14.04	2.415337	0.42817	.	.	ENSG00000011143	ENST00000337050	T	0.69561	-0.41	5.22	-2.17	0.07059	.	.	.	.	.	T	0.62146	0.2404	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59804	-0.7385	6	0.66056	D	0.02	-32.7994	2.022	0.03511	0.3395:0.3439:0.2039:0.1126	.	.	.	.	V	470	ENSP00000338407:A470V	ENSP00000338407:A470V	A	-	2	0	MKS1	53638863	0.993000	0.37304	0.232000	0.24009	0.787000	0.44495	0.256000	0.18351	-0.521000	0.06426	-0.219000	0.12488	GCA		0.617	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258015.2	NM_017777		4	71	0	0	0	0.000602	0	4	71					A	56283864	G	A	56283864	2	1	114	1	0	0	0	0	0	0	0	1	9609	1306	46	2		2	MKS1	17	56283864	Silent	SNP	G	TCGA-DJ-A2QA-01A-11D-A18F-08	10916745	56283864	24911346	19	2430											
CTDP1	9150	broad.mit.edu	37	chr18	77464908	77464908	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagccggctgtacgcacacAccatcgcaggtcagtcaagc	11	15	2	0			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr18:77464908A>C	ENST00000299543.7	+	5	910	c.763A>C	c.(763-765)Acc>Ccc	p.T255P	CTDP1_ENST00000075430.7_Missense_Mutation_p.T255P|RP11-567M16.5_ENST00000587315.1_RNA	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	255	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		GTACGCACACACCATCGCAGG	0.547																																						ENST00000299543.7																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35						c.(763-765)Acc>Ccc		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1							51	43	46					18																	77464908		2202	4299	6501	SO:0001583	missense	9150				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity	g.chr18:77464908A>C	AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.763A>C	18.37:g.77464908A>C	ENSP00000299543:p.Thr255Pro					CTDP1_ENST00000075430.7_Missense_Mutation_p.T255P	p.T255P	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)	5	910	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	255			FCP1 homology.		A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Missense_Mutation	SNP	ENST00000299543.7	37	c.763A>C	CCDS12017.1	.	.	.	.	.	.	.	.	.	.	A	17.53	3.412330	0.62511	.	.	ENSG00000060069	ENST00000299543;ENST00000075430	T;T	0.15487	2.42;2.42	4.96	4.96	0.65561	NLI interacting factor (3);FCP1-like phosphatase, phosphatase domain (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.25531	0.0621	N	0.13198	0.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.11941	-1.0567	10	0.49607	T	0.09	-37.1546	14.9166	0.70801	1.0:0.0:0.0:0.0	.	136;255;255	Q9Y5B0-3;Q9Y5B0-4;Q9Y5B0	.;.;CTDP1_HUMAN	P	255	ENSP00000299543:T255P;ENSP00000075430:T255P	ENSP00000075430:T255P	T	+	1	0	CTDP1	75565896	1.000000	0.71417	0.994000	0.49952	0.172000	0.22775	8.469000	0.90395	1.975000	0.57531	0.533000	0.62120	ACC		0.547	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715		7	49	0	0	0	0.008291	0	7	49					C	77464908	A	C	77464908	3	2	114	1	0	0	0	0	1	0	0	0	4002	159	6	5	781	5	CTDP1	18	77464908	Missense_Mutation	SNP	A	TCGA-DJ-A2QA-01A-11D-A18F-08		77464908	612340	20	2431											
DNASE2	1777	broad.mit.edu	37	chr19	12989328	12989328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attctccaagtcggggaattCctgggcaaagatcccttcca	9	12	1	1			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr19:12989328C>T	ENST00000222219.3	-	5	669	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	DNASE2_ENST00000538460.1_Missense_Mutation_p.E138K|CTD-2265O21.7_ENST00000592400.1_RNA	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal	193					apoptotic DNA fragmentation (GO:0006309)|DNA metabolic process (GO:0006259)|erythrocyte differentiation (GO:0030218)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)|DNA binding (GO:0003677)			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						TCGGGGAATTCCTGGGCAAAG	0.557																																						ENST00000222219.3																			0				breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						c.(577-579)Gaa>Aaa		deoxyribonuclease II, lysosomal							104	100	101					19																	12989328		2203	4300	6503	SO:0001583	missense	1777				apoptosis	lysosome	deoxyribonuclease II activity|DNA binding|protein binding	g.chr19:12989328C>T	AF045937	CCDS12284.1	19p13.2	2012-10-02			ENSG00000105612	ENSG00000105612	3.1.22.1		2960	protein-coding gene	gene with protein product		126350		DNL, DNL2		1586130	Standard	NM_001375		Approved		uc002mvn.1	O00115		ENST00000222219.3:c.577G>A	19.37:g.12989328C>T	ENSP00000222219:p.Glu193Lys					DNASE2_ENST00000538460.1_Missense_Mutation_p.E138K	p.E193K	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN			5	669	-			193					B2RD06|B7Z4K6|O43910	Missense_Mutation	SNP	ENST00000222219.3	37	c.577G>A	CCDS12284.1	.	.	.	.	.	.	.	.	.	.	C	2.025	-0.423723	0.04734	.	.	ENSG00000105612	ENST00000222219;ENST00000538460	T;T	0.13307	2.6;2.6	5.49	1.94	0.25998	.	0.817875	0.11465	N	0.561378	T	0.04227	0.0117	N	0.03948	-0.315	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.002	T	0.44003	-0.9356	10	0.06757	T	0.87	.	3.224	0.06725	0.0:0.3466:0.2261:0.4273	.	138;193	B7Z4K6;O00115	.;DNS2A_HUMAN	K	193;138	ENSP00000222219:E193K;ENSP00000445988:E138K	ENSP00000222219:E193K	E	-	1	0	DNASE2	12850328	0.997000	0.39634	0.043000	0.18650	0.144000	0.21451	1.859000	0.39418	0.372000	0.24591	-0.471000	0.05019	GAA		0.557	DNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451790.1			13	39	0	0	0	0.001368	0	13	39					T	12989328	C	T	12989328	3	4	114	1	0	0	0	0	1	0	0	0	4664	864	30	2	513	2	DNASE2	19	12989328	Missense_Mutation	SNP	C	TCGA-DJ-A2QA-01A-11D-A18F-08		12989328	46139655	21	2432											
ISOC2	79763	broad.mit.edu	37	chr19	55966378	55966378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgaactgggggtggacgGcatcgcccacaagctgcaga	14	12	0	2			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr19:55966378G>A	ENST00000425675.2	-	5	575	c.515C>T	c.(514-516)gCc>gTc	p.A172V	ISOC2_ENST00000085068.3_Missense_Mutation_p.A188V|ISOC2_ENST00000438389.2_Missense_Mutation_p.A102V			Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2	172					protein destabilization (GO:0031648)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			endometrium(1)|lung(4)|ovary(1)|stomach(1)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		GGGGTGGACGGCATCGCCCAC	0.622											OREG0025682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000438389.2																			0				endometrium(1)|lung(4)|ovary(1)|stomach(1)	7						c.(304-306)gCc>gTc		isochorismatase domain containing 2							45	46	46					19																	55966378		2203	4300	6503	SO:0001583	missense	79763				protein destabilization	mitochondrion|nucleus	catalytic activity|protein binding	g.chr19:55966378G>A	AK027122	CCDS12925.1, CCDS46194.1, CCDS46195.1	19q13.42	2011-07-14			ENSG00000063241	ENSG00000063241			26278	protein-coding gene	gene with protein product		612928				17658461	Standard	NM_024710		Approved	FLJ23469	uc002qla.3	Q96AB3		ENST00000425675.2:c.515C>T	19.37:g.55966378G>A	ENSP00000401726:p.Ala172Val		OREG0025682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1011	ISOC2_ENST00000425675.2_Missense_Mutation_p.A172V|ISOC2_ENST00000085068.3_Missense_Mutation_p.A188V	p.A102V	NM_001136202.1	NP_001129674.1	Q96AB3	ISOC2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)	4	1139	-	Breast(117;0.155)		172					Q6ZN91|Q9H5G0	Missense_Mutation	SNP	ENST00000425675.2	37	c.305C>T	CCDS46195.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352378	0.61293	.	.	ENSG00000063241	ENST00000085068;ENST00000425675;ENST00000438389	.	.	.	3.88	3.88	0.44766	Isochorismatase-like (2);	0.000000	0.85682	D	0.000000	T	0.69369	0.3103	L	0.54323	1.7	0.58432	D	0.999998	D;D;D	0.71674	0.998;0.991;0.975	D;P;P	0.69142	0.962;0.884;0.848	T	0.73313	-0.4022	9	0.72032	D	0.01	-7.9387	13.7376	0.62827	0.0:0.0:1.0:0.0	.	102;172;188	Q96AB3-3;Q96AB3;Q96AB3-2	.;ISOC2_HUMAN;.	V	188;172;102	.	ENSP00000085068:A188V	A	-	2	0	ISOC2	60658190	1.000000	0.71417	0.810000	0.32431	0.070000	0.16714	8.272000	0.89885	1.891000	0.54761	0.491000	0.48974	GCC		0.622	ISOC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453179.1	NM_024710		3	47	0	0	0	0.000248	0	3	47					A	55966378	G	A	55966378	3	1	114	1	0	0	0	0	1	0	0	0	7863	1203	42	2	110	2	ISOC2	19	55966378	Missense_Mutation	SNP	G	TCGA-DJ-A2QA-01A-11D-A18F-08	42977050	55966378	3162605	22	2433											
FUNDC1	139341	broad.mit.edu	37	chrX	44402059	44402059	+	Frame_Shift_Del	DEL	G	G	-													ctggccgctcaccttggggaGgggggttccgggtcgccatg							TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chrX:44402059delG	ENST00000378045.4	-	1	188	c.20delC	c.(19-21)cctfs	p.P8fs	FUNDC1_ENST00000483115.1_5'Flank	NM_173794.3	NP_776155.1	Q8IVP5	FUND1_HUMAN	FUN14 domain containing 1	8					mitochondrion degradation (GO:0000422)|response to hypoxia (GO:0001666)	integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane (GO:0005741)				breast(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						ACCTTGGGGAGGGGGGTTCCG	0.657																																						ENST00000378045.4																			0				breast(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						c.(19-21)ctfs		FUN14 domain containing 1							16	15	15					X																	44402059		2148	4199	6347	SO:0001589	frameshift_variant	139341							g.chrX:44402059delG	BC042813	CCDS14263.1	Xp11.4	2005-09-22			ENSG00000069509	ENSG00000069509			28746	protein-coding gene	gene with protein product		300871				12477932	Standard	NM_173794		Approved	MGC51029	uc004dgc.3	Q8IVP5	OTTHUMG00000021399	ENST00000378045.4:c.20delC	X.37:g.44402059delG	ENSP00000367284:p.Pro8fs						p.P8fs	NM_173794.3	NP_776155.1	Q8IVP5	FUND1_HUMAN			1	188	-			8						Frame_Shift_Del	DEL	ENST00000378045.4	37	c.20delC	CCDS14263.1																																																																																				0.657	FUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056320.1	NM_173794		2	4						2	4	---	---	---	---	-	44402059	G	-	44402059	7	5	114	1	0	1	0	1	0	0	0	0	6097	1000	35	0	467	0	FUNDC1	23	44402059	Frame_Shift_Del	DEL	G	TCGA-DJ-A2QA-01A-11D-A18F-08		44402059	110868501	23	2434											
CDKN2C	1031	broad.mit.edu	37	chr1	51439634	51439634	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgctaatcccgatttgaaaGaccgaactggtttcgctgtc	10	10	0	2			TCGA-DJ-A2QB-01A-11D-A19J-08	TCGA-DJ-A2QB-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1584fb00-5b1c-4b75-89d8-e9504b8bc989	5e27ef92-19e3-430a-991b-53b55c88baaf	g.chr1:51439634G>A	ENST00000262662.1	+	4	2233	c.199G>A	c.(199-201)Gac>Aac	p.D67N	CDKN2C_ENST00000371761.3_Missense_Mutation_p.D67N|CDKN2C_ENST00000396148.1_Missense_Mutation_p.D67N			P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)	67					cell cycle arrest (GO:0007050)|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 phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|oligodendrocyte differentiation (GO:0048709)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)	p.0?(11)|p.?(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		CGATTTGAAAGACCGAACTGG	0.448			D		"glioma, MM"																																Melanoma(47;50 1155 4767 22863 47597)	ENST00000262662.1				Rec	yes		1	1p32	1031	D	"cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)"			"O, L"			"glioma, MM"		12	Whole gene deletion(11)|Unknown(1)	p.0?(11)|p.?(1)	central_nervous_system(6)|haematopoietic_and_lymphoid_tissue(5)|thyroid(1)	central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23						c.(199-201)Gac>Aac		cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)							101	99	100					1																	51439634		2203	4300	6503	SO:0001583	missense	1031				cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	g.chr1:51439634G>A	BC000598	CCDS555.1	1p32.3	2013-01-10			ENSG00000123080	ENSG00000123080		"Ankyrin repeat domain containing"	1789	protein-coding gene	gene with protein product		603369				8001816, 9636670	Standard	NM_001262		Approved	INK4C, p18	uc001csg.3	P42773	OTTHUMG00000008046	ENST00000262662.1:c.199G>A	1.37:g.51439634G>A	ENSP00000262662:p.Asp67Asn					CDKN2C_ENST00000396148.1_Missense_Mutation_p.D67N|CDKN2C_ENST00000371761.3_Missense_Mutation_p.D67N	p.D67N			P42773	CDN2C_HUMAN		GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)	4	2233	+			67					Q8TB83	Missense_Mutation	SNP	ENST00000262662.1	37	c.199G>A	CCDS555.1	.	.	.	.	.	.	.	.	.	.	G	33	5.209373	0.95069	.	.	ENSG00000123080	ENST00000262662;ENST00000396148;ENST00000371761	T;T;T	0.69926	-0.44;-0.44;-0.44	5.31	5.31	0.75309	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.82453	0.5040	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81068	-0.1100	10	0.39692	T	0.17	-12.264	19.1686	0.93567	0.0:0.0:1.0:0.0	.	67	P42773	CDN2C_HUMAN	N	67	ENSP00000262662:D67N;ENSP00000379452:D67N;ENSP00000360826:D67N	ENSP00000262662:D67N	D	+	1	0	CDKN2C	51212222	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.547000	0.73892	2.770000	0.95276	0.655000	0.94253	GAC		0.448	CDKN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022058.1	NM_001262		30	50	0	0	0	0.000227799	0	30	50					A	51439634	G	A	51439634	3	1	115	1	0	0	0	0	1	0	0	0	3165	942	33	2	205	2	CDKN2C	1	51439634	Missense_Mutation	SNP	G	TCGA-DJ-A2QB-01A-11D-A19J-08		51439634	197810987	1	2435											
DSTYK	25778	broad.mit.edu	37	chr1	205128809	205128809	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgcttcggcagagaccTggagggaaggagagagatct	15	8	2	3			TCGA-DJ-A2QB-01A-11D-A19J-08	TCGA-DJ-A2QB-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1584fb00-5b1c-4b75-89d8-e9504b8bc989	5e27ef92-19e3-430a-991b-53b55c88baaf	g.chr1:205128809T>G	ENST00000367162.3	-	9	2136		c.e9-2		DSTYK_ENST00000367161.3_Splice_Site|DSTYK_ENST00000367160.4_Intron	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase						cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						GGCAGAGACCTGGAGGGAAGG	0.498																																						ENST00000367162.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						c.e9-2		dual serine/threonine and tyrosine protein kinase							81	72	75					1																	205128809		2203	4300	6503	SO:0001630	splice_region_variant	25778					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:205128809T>G	AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"receptor interacting protein kinase 5"	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.2106-2A>C	1.37:g.205128809T>G						DSTYK_ENST00000367161.3_Splice_Site|DSTYK_ENST00000367160.4_Intron		NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN			9	2136	-								B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Splice_Site	SNP	ENST00000367162.3	37		CCDS1451.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.648726	0.87958	.	.	ENSG00000133059	ENST00000367161;ENST00000367162	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0558	0.80805	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	DSTYK	203395432	1.000000	0.71417	0.987000	0.45799	0.895000	0.52256	7.886000	0.87288	2.281000	0.76405	0.533000	0.62120	.		0.498	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375	Intron	8	22	0	0	0	3.86212e-05	0	8	22					G	205128809	T	G	205128809	5	3	115	1	0	0	0	0	0	0	1	0	4785	1594	55	5	705	5	DSTYK	1	205128809	Splice_Site	SNP	T	TCGA-DJ-A2QB-01A-11D-A19J-08	153689175	205128809	44121812	2	2436											
LARS	51520	broad.mit.edu	37	chr5	145524092	145524092	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaattctcttctccataaTccaagtacctgggagtggac	7	12	2	0			TCGA-DJ-A2QB-01A-11D-A19J-08	TCGA-DJ-A2QB-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1584fb00-5b1c-4b75-89d8-e9504b8bc989	5e27ef92-19e3-430a-991b-53b55c88baaf	g.chr5:145524092T>C	ENST00000394434.2	-	17	1764	c.1598A>G	c.(1597-1599)gAt>gGt	p.D533G	LARS_ENST00000510191.1_Missense_Mutation_p.D479G|LARS_ENST00000274562.9_Missense_Mutation_p.D506G|LARS_ENST00000545646.1_Missense_Mutation_p.D487G	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	533					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TTCTCCATAATCCAAGTACCT	0.388																																						ENST00000394434.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34						c.(1597-1599)gAt>gGt		leucyl-tRNA synthetase	L-Leucine(DB00149)						137	131	133					5																	145524092		2203	4300	6503	SO:0001583	missense	51520				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	g.chr5:145524092T>C	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	6512	protein-coding gene	gene with protein product	"leucine tRNA ligase 1, cytoplasmic"	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.1598A>G	5.37:g.145524092T>C	ENSP00000377954:p.Asp533Gly					LARS_ENST00000510191.1_Missense_Mutation_p.D479G|LARS_ENST00000545646.1_Missense_Mutation_p.D487G|LARS_ENST00000274562.9_Missense_Mutation_p.D506G	p.D533G	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		17	1764	-			533					A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	ENST00000394434.2	37	c.1598A>G	CCDS34265.1	.	.	.	.	.	.	.	.	.	.	T	18.46	3.627780	0.66901	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000510191;ENST00000274562	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	5.39	5.39	0.77823	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	D	0.90721	0.7088	H	0.94503	3.545	0.80722	D	1	P;D;D	0.63046	0.943;0.961;0.992	P;P;D	0.66497	0.759;0.756;0.944	D	0.93124	0.6527	10	0.66056	D	0.02	-7.7044	15.7091	0.77609	0.0:0.0:0.0:1.0	.	506;487;533	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	G	533;487;479;506	ENSP00000377954:D533G;ENSP00000437791:D487G;ENSP00000426005:D479G;ENSP00000274562:D506G	ENSP00000274562:D506G	D	-	2	0	LARS	145504285	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	5.619000	0.67729	2.181000	0.69327	0.459000	0.35465	GAT		0.388	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		30	56	0	0	0	0.000227799	0	30	56					C	145524092	T	C	145524092	3	2	115	1	0	0	0	0	1	0	0	0	8634	1435	50	3	1996	3	LARS	5	145524092	Missense_Mutation	SNP	T	TCGA-DJ-A2QB-01A-11D-A19J-08		145524092	35391168	3	2437											
FAF2	23197	broad.mit.edu	37	chr5	175921248	175921248	+	Frame_Shift_Del	DEL	C	C	-													aggatgctcttctgggcatgCtctacaaacaaacctgaggg							TCGA-DJ-A2QB-01A-11D-A19J-08	TCGA-DJ-A2QB-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1584fb00-5b1c-4b75-89d8-e9504b8bc989	5e27ef92-19e3-430a-991b-53b55c88baaf	g.chr5:175921248delC	ENST00000261942.6	+	7	686	c.633delC	c.(631-633)tgcfs	p.C211fs		NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	211					lipid particle organization (GO:0034389)|negative regulation of catalytic activity (GO:0043086)|response to unfolded protein (GO:0006986)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	lipase binding (GO:0035473)|lipase inhibitor activity (GO:0055102)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						TCTGGGCATGCTCTACAAACA	0.413																																						ENST00000261942.6																			0				breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						c.(631-633)tgfs		Fas associated factor family member 2							156	146	149					5																	175921248		2203	4300	6503	SO:0001589	frameshift_variant	23197				response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding	g.chr5:175921248delC	BC015791	CCDS34296.1	5q35.2	2011-06-28	2008-07-25	2008-07-25	ENSG00000113194	ENSG00000113194		"UBX domain containing"	24666	protein-coding gene	gene with protein product	"expressed in T cells and eosinophils in atopic dermatitis", "UBX domain protein 3B"		"UBX domain containing 8"	UBXD8		10048485, 12372427	Standard	NM_014613		Approved	ETEA, KIAA0887, UBXN3B	uc003mej.4	Q96CS3	OTTHUMG00000163228	ENST00000261942.6:c.633delC	5.37:g.175921248delC	ENSP00000261942:p.Cys211fs						p.C211fs	NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN			7	686	+			211					O94963|Q8IUF2|Q9BRP2|Q9BVM7	Frame_Shift_Del	DEL	ENST00000261942.6	37	c.633delC	CCDS34296.1																																																																																				0.413	FAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372194.1	NM_014613		30	72						30	72	---	---	---	---	-	175921248	C	-	175921248	7	5	115	1	0	1	0	1	0	0	0	0	5370	805	28	0	659	0	FAF2	5	175921248	Frame_Shift_Del	DEL	C	TCGA-DJ-A2QB-01A-11D-A19J-08	30397156	175921248	4994012	4	2438											
TRPV5	56302	broad.mit.edu	37	chr7	142606711	142606711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacagatcccggagcgagGccacaggcagcgaggcagct	14	15	0	1			TCGA-DJ-A2QB-01A-11D-A19J-08	TCGA-DJ-A2QB-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1584fb00-5b1c-4b75-89d8-e9504b8bc989	5e27ef92-19e3-430a-991b-53b55c88baaf	g.chr7:142606711G>A	ENST00000265310.1	-	14	2188	c.1840C>T	c.(1840-1842)Cct>Tct	p.P614S		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	614					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CCGGAGCGAGGCCACAGGCAG	0.592																																						ENST00000265310.1																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67						c.(1840-1842)Cct>Tct		transient receptor potential cation channel, subfamily V, member 5							78	68	72					7																	142606711		2203	4300	6503	SO:0001583	missense	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142606711G>A	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	3145	protein-coding gene	gene with protein product		606679	"epithelial calcium channel 1"	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1840C>T	7.37:g.142606711G>A	ENSP00000265310:p.Pro614Ser						p.P614S	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN			14	2188	-	Melanoma(164;0.059)		614					A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.1840C>T	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613793	0.87359	.	.	ENSG00000127412	ENST00000265310;ENST00000439304	T;T	0.79554	-1.26;-1.28	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.81336	0.4801	M	0.82716	2.605	0.80722	D	1	P	0.45212	0.853	B	0.39027	0.288	T	0.81957	-0.0695	10	0.27785	T	0.31	-18.4533	17.3777	0.87397	0.0:0.0:1.0:0.0	.	614	Q9NQA5	TRPV5_HUMAN	S	614;559	ENSP00000265310:P614S;ENSP00000406361:P559S	ENSP00000265310:P614S	P	-	1	0	TRPV5	142316833	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.131000	0.71670	2.672000	0.90937	0.655000	0.94253	CCT		0.592	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		10	30	0	0	0	0.00010058	0	10	30					A	142606711	G	A	142606711	3	1	115	1	0	0	0	0	1	0	0	0	16596	1203	42	2	357	2	TRPV5	7	142606711	Missense_Mutation	SNP	G	TCGA-DJ-A2QB-01A-11D-A19J-08		142606711	16531952	5	2439											
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	14	13	0	0	rs121913233		TCGA-DJ-A2QB-01A-11D-A19J-08	TCGA-DJ-A2QB-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1584fb00-5b1c-4b75-89d8-e9504b8bc989	5e27ef92-19e3-430a-991b-53b55c88baaf	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117	102	107					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)				HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R	p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		15	42	0	0	0	5.01169e-05	0	15	42					C	533874	T	C	533874	3	2	115	1	0	0	0	0	1	0	0	0	7348	1580	55	3	466	3	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-DJ-A2QB-01A-11D-A19J-08		533874	134472642	6	2440											
CD163L1	283316	broad.mit.edu	37	chr12	7520684	7520684	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atcctagtggggctctcaccTctgaggggcagatgtttttg	13	9	2	2			TCGA-DJ-A2QB-01A-11D-A19J-08	TCGA-DJ-A2QB-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1584fb00-5b1c-4b75-89d8-e9504b8bc989	5e27ef92-19e3-430a-991b-53b55c88baaf	g.chr12:7520684T>A	ENST00000313599.3	-	17	4239	c.4182A>T	c.(4180-4182)agA>agT	p.R1394S	CD163L1_ENST00000396630.1_Splice_Site_p.R1394S|CD163L1_ENST00000416109.2_Splice_Site_p.R1404S			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1394						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GGCTCTCACCTCTGAGGGGCA	0.463																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.e17+1		CD163 molecule-like 1							91	85	87					12																	7520684		2203	4300	6503	SO:0001630	splice_region_variant	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7520684T>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.4183+1A>T	12.37:g.7520684T>A						CD163L1_ENST00000396630.1_Splice_Site_p.R1394_splice|CD163L1_ENST00000416109.2_Splice_Site_p.R1404_splice	p.R1394_splice			Q9NR16	C163B_HUMAN			17	4239	-			1394					B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Splice_Site	SNP	ENST00000313599.3	37	c.4183_splice	CCDS8577.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.38|11.38	1.620778|1.620778	0.28889|0.28889	.|.	.|.	ENSG00000177675|ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630|ENST00000539726	T;T;T|.	0.01430|.	4.9;4.9;5.18|.	1.2|1.2	1.2|1.2	0.21068|0.21068	.|.	.|.	.|.	.|.	.|.	T|T	0.15609|0.15609	0.0376|0.0376	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	D;B|.	0.60575|.	0.988;0.073|.	P;B|.	0.57204|.	0.815;0.014|.	T|T	0.23726|0.23726	-1.0180|-1.0180	9|5	0.12430|.	T|.	0.62|.	.|.	4.5727|4.5727	0.12217|0.12217	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1404;1394|.	E7EVK4;Q9NR16|.	.;C163B_HUMAN|.	S|C	1394;1404;1394|50	ENSP00000315945:R1394S;ENSP00000393474:R1404S;ENSP00000379871:R1394S|.	ENSP00000315945:R1394S|.	R|S	-|-	3|1	2|0	CD163L1|CD163L1	7411951|7411951	0.069000|0.069000	0.21087|0.21087	0.016000|0.016000	0.15963|0.15963	0.243000|0.243000	0.25628|0.25628	1.564000|1.564000	0.36375|0.36375	0.793000|0.793000	0.33875|0.33875	0.383000|0.383000	0.25322|0.25322	AGA|AGT		0.463	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941	Missense_Mutation	17	45	0	0	0	0.000175454	0	17	45					A	7520684	T	A	7520684	5	1	115	1	0	0	0	0	0	0	1	0	2968	1565	54	5	191	5	CD163L1	12	7520684	Splice_Site	SNP	T	TCGA-DJ-A2QB-01A-11D-A19J-08		7520684	126331211	7	2441											
DUOX2	50506	broad.mit.edu	37	chr15	45399037	45399037	+	Frame_Shift_Del	DEL	A	A	-													cctaagagctcacctaagggAaggcagcagagagcaatgat							TCGA-DJ-A2QB-01A-11D-A19J-08	TCGA-DJ-A2QB-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1584fb00-5b1c-4b75-89d8-e9504b8bc989	5e27ef92-19e3-430a-991b-53b55c88baaf	g.chr15:45399037delA	ENST00000603300.1	-	15	2026	c.1824delT	c.(1822-1824)cttfs	p.L608fs	DUOX2_ENST00000389039.6_Frame_Shift_Del_p.L608fs	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	608					adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CACCTAAGGGAAGGCAGCAGA	0.582																																						ENST00000389039.6																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(1822-1824)ctfs		dual oxidase 2							44	44	44					15																	45399037		2198	4295	6493	SO:0001589	frameshift_variant	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45399037delA	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"EF-hand domain containing"	13273	protein-coding gene	gene with protein product	"dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2"	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.1824delT	15.37:g.45399037delA	ENSP00000475084:p.Leu608fs					DUOX2_ENST00000603300.1_Frame_Shift_Del_p.L608fs	p.L608fs			Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	15	2209	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	608					A8MQ13|D2XI64|Q9NR02|Q9UHF9	Frame_Shift_Del	DEL	ENST00000603300.1	37	c.1824delT	CCDS10117.1																																																																																				0.582	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		2	4						2	4	---	---	---	---	-	45399037	A	-	45399037	7	5	115	1	0	1	0	1	0	0	0	0	4801	233	9	0	2902	0	DUOX2	15	45399037	Frame_Shift_Del	DEL	A	TCGA-DJ-A2QB-01A-11D-A19J-08		45399037	57132355	8	2442											
PLXNB2	23654	broad.mit.edu	37	chr22	50727260	50727260	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgtttatctccacaaggataGagtcgtactctgaggaggtg	12	7	2	2			TCGA-DJ-A2QB-01A-11D-A19J-08	TCGA-DJ-A2QB-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1584fb00-5b1c-4b75-89d8-e9504b8bc989	5e27ef92-19e3-430a-991b-53b55c88baaf	g.chr22:50727260G>C	ENST00000449103.1	-	5	1432	c.1292C>G	c.(1291-1293)tCt>tGt	p.S431C	PLXNB2_ENST00000496720.1_5'Flank|PLXNB2_ENST00000359337.4_Missense_Mutation_p.S431C			O15031	PLXB2_HUMAN	plexin B2	431	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CACAAGGATAGAGTCGTACTC	0.612																																						ENST00000449103.1																			0				breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(1291-1293)tCt>tGt		plexin B2							70	73	72					22																	50727260		2141	4226	6367	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50727260G>C		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.1292C>G	22.37:g.50727260G>C	ENSP00000409171:p.Ser431Cys					PLXNB2_ENST00000359337.4_Missense_Mutation_p.S431C	p.S431C			O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	5	1432	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	431			Sema.		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.1292C>G	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.895566	0.52121	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000414275;ENST00000432455	T;T;T	0.11169	2.8;2.8;2.8	4.19	4.19	0.49359	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	1.017930	0.07856	N	0.965506	T	0.30510	0.0767	M	0.76838	2.35	0.40147	D	0.976904	D	0.53312	0.959	P	0.55545	0.778	T	0.02512	-1.1148	10	0.42905	T	0.14	.	14.1858	0.65605	0.0:0.0:1.0:0.0	.	431	O15031	PLXB2_HUMAN	C	431	ENSP00000409171:S431C;ENSP00000352288:S431C;ENSP00000392620:S431C	ENSP00000352288:S431C	S	-	2	0	PLXNB2	49069387	1.000000	0.71417	0.827000	0.32855	0.056000	0.15407	5.937000	0.70162	2.327000	0.79052	0.561000	0.74099	TCT		0.612	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		4	7	0	0	0	3.59834e-05	0	4	7					C	50727260	G	C	50727260	3	2	115	1	0	0	0	0	1	0	0	0	12124	942	33	4	4356	4	PLXNB2	22	50727260	Missense_Mutation	SNP	G	TCGA-DJ-A2QB-01A-11D-A19J-08		50727260	577306	9	2443											
PHKA2	5256	broad.mit.edu	37	chrX	18926165	18926172	+	Frame_Shift_Del	DEL	GCTGGGAC	GCTGGGAC	-													ccagagagatttgtgtcccaGctgggacccctgccaagagg					rs138395800	byFrequency	TCGA-DJ-A2QB-01A-11D-A19J-08	TCGA-DJ-A2QB-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1584fb00-5b1c-4b75-89d8-e9504b8bc989	5e27ef92-19e3-430a-991b-53b55c88baaf	g.chrX:18926165_18926172delGCTGGGAC	ENST00000379942.4	-	22	3028_3035	c.2363_2370delGTCCCAGC	c.(2362-2370)ggtcccagcfs	p.GPS788fs		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	788					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TTGTGTCCCAGCTGGGACCCCTGCCAAG	0.524																																						ENST00000379942.4																			0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(2362-2370)gfs		phosphorylase kinase, alpha 2 (liver)																																				SO:0001589	frameshift_variant	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18926165_18926172delGCTGGGAC		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.2363_2370delGTCCCAGC	X.37:g.18926165_18926172delGCTGGGAC	ENSP00000369274:p.Gly788fs						p.GPS788fs	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN			22	3028_3035	-	Hepatocellular(33;0.183)		788					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Frame_Shift_Del	DEL	ENST00000379942.4	37	c.2363_2370delGTCCCAGC	CCDS14190.1																																																																																				0.524	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		27	142						27	142	---	---	---	---	-	18926172	GCTGGGAC	-	18926165	7	5	115	1	0	1	0	1	0	0	0	0	11844	962	34	0	1385	0	PHKA2	23	18926165	Frame_Shift_Del	DEL	GCTGGGAC	TCGA-DJ-A2QB-01A-11D-A19J-08		18926165	136344395	10	2444											
NRD1	4898	broad.mit.edu	37	chr1	52260235	52260235	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactgggcagctctaccaccTggaactgcacaggcatctcc	9	16	2	0			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr1:52260235T>C	ENST00000354831.7	-	26	3077	c.2888A>G	c.(2887-2889)cAg>cGg	p.Q963R	NRD1_ENST00000539524.1_Missense_Mutation_p.Q831R|NRD1_ENST00000352171.7_Missense_Mutation_p.Q895R|RP4-657D16.3_ENST00000586761.1_RNA|RP4-657D16.3_ENST00000591675.1_RNA|RP4-657D16.3_ENST00000588291.1_RNA|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	894					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						CTCTACCACCTGGAACTGCAC	0.493																																						ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(2887-2889)cAg>cGg		nardilysin (N-arginine dibasic convertase)							249	252	251					1																	52260235		2203	4300	6503	SO:0001583	missense	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52260235T>C	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.2888A>G	1.37:g.52260235T>C	ENSP00000346890:p.Gln963Arg					NRD1_ENST00000352171.7_Missense_Mutation_p.Q895R|NRD1_ENST00000539524.1_Missense_Mutation_p.Q831R|RP4-657D16.3_ENST00000586761.1_RNA|NRD1_ENST00000485608.1_5'UTR|RP4-657D16.3_ENST00000588291.1_RNA	p.Q963R	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			26	3077	-			894					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	37	c.2888A>G	CCDS559.1	.	.	.	.	.	.	.	.	.	.	T	6.898	0.535254	0.13188	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000371665;ENST00000546169	T;T;T	0.07216	3.21;3.21;3.21	5.53	4.39	0.52855	Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.176229	0.49916	D	0.000135	T	0.01454	0.0047	N	0.00182	-1.905	0.80722	D	1	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.06405	0.001;0.001;0.002	T	0.41787	-0.9489	10	0.02654	T	1	-6.0178	6.3355	0.21294	0.0:0.1527:0.0:0.8473	.	895;894;963	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	R	895;963;831;325;895	ENSP00000262679:Q895R;ENSP00000346890:Q963R;ENSP00000444416:Q831R	ENSP00000262679:Q895R	Q	-	2	0	NRD1	52032823	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	3.678000	0.54627	2.324000	0.78689	0.533000	0.62120	CAG		0.493	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		4	311	0	0	0	0.009096	0	4	311					C	52260235	T	C	52260235	3	2	116	1	0	0	0	0	1	0	0	0	10645	1580	55	3	803	3	NRD1	1	52260235	Missense_Mutation	SNP	T	TCGA-DJ-A2QC-01A-11D-A18F-08		52260235	196990386	1	2445											
NSL1	25936	broad.mit.edu	37	chr1	212964938	212964938	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgtccccgagcttttgcacGaagcggccgcacagttgtag	13	13	0	0			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr1:212964938G>A	ENST00000366977.3	-	1	186	c.168C>T	c.(166-168)ttC>ttT	p.F56F	TATDN3_ENST00000366974.4_5'Flank|TATDN3_ENST00000366973.4_5'Flank|TATDN3_ENST00000526641.1_5'Flank|NSL1_ENST00000422588.2_Silent_p.F56F|NSL1_ENST00000366976.1_Silent_p.F56F|NSL1_ENST00000366975.6_Silent_p.F56F|NSL1_ENST00000473995.1_5'UTR|TATDN3_ENST00000532324.1_5'Flank|TATDN3_ENST00000530441.1_5'Flank|TATDN3_ENST00000531963.1_5'Flank|NSL1_ENST00000366978.1_5'Flank|TATDN3_ENST00000526997.1_5'Flank	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	56					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		GCTTTTGCACGAAGCGGCCGC	0.617																																						ENST00000366977.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9						c.(166-168)ttC>ttT		NSL1, MIS12 kinetochore complex component							94	104	100					1																	212964938		2202	4299	6501	SO:0001819	synonymous_variant	25936				cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr1:212964938G>A	AF255793	CCDS1509.1, CCDS73025.1	1q41	2013-07-03	2013-07-03	2006-11-07	ENSG00000117697	ENSG00000117697			24548	protein-coding gene	gene with protein product		609174	"chromosome 1 open reading frame 48", "NSL1, MIND kinetochore complex component, homolog (S. cerevisiae)"	C1orf48		20819937	Standard	NM_015471		Approved	DC8, DKFZP566O1646, MIS14	uc001hjn.3	Q96IY1	OTTHUMG00000036806	ENST00000366977.3:c.168C>T	1.37:g.212964938G>A						NSL1_ENST00000366975.6_Silent_p.F56F|NSL1_ENST00000422588.2_Silent_p.F56F|NSL1_ENST00000473995.1_5'UTR|NSL1_ENST00000366976.1_Silent_p.F56F	p.F56F	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)	1	186	-			56					E7ETD5|Q5SY75|Q9H2M5|Q9NRN8|Q9Y415	Silent	SNP	ENST00000366977.3	37	c.168C>T	CCDS1509.1																																																																																				0.617	NSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089398.2	NM_015471		14	197	0	0	0	0.105934	0	14	197					A	212964938	G	A	212964938	2	1	116	1	0	0	0	0	0	0	0	1	10673	1049	37	1		1	NSL1	1	212964938	Silent	SNP	G	TCGA-DJ-A2QC-01A-11D-A18F-08	160704703	212964938	36285683	2	2446											
SOS1	6654	broad.mit.edu	37	chr2	39250247	39250247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccattataaattcattaCaacactgtccaatgtctttt	2	10	2	0			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr2:39250247C>T	ENST00000426016.1	-	11	1408	c.1322G>A	c.(1321-1323)tGt>tAt	p.C441Y	SOS1_ENST00000472480.1_5'UTR|SOS1_ENST00000395038.2_Missense_Mutation_p.C441Y|SOS1_ENST00000402219.2_Missense_Mutation_p.C441Y			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	441			C -> Y (in NS4). {ECO:0000269|PubMed:17143282, ECO:0000269|PubMed:21387466}.		apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				AAATTCATTACAACACTGTCC	0.363									Noonan syndrome																													ENST00000426016.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75	GRCh37	CM070286	SOS1	M		c.(1321-1323)tGt>tAt		son of sevenless homolog 1 (Drosophila)							120	110	113					2																	39250247		2203	4300	6503	SO:0001583	missense	6654	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39250247C>T	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11187	protein-coding gene	gene with protein product		182530	"gingival fibromatosis, hereditary, 1"	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.1322G>A	2.37:g.39250247C>T	ENSP00000387784:p.Cys441Tyr					SOS1_ENST00000472480.1_5'UTR|SOS1_ENST00000395038.2_Missense_Mutation_p.C441Y|SOS1_ENST00000402219.2_Missense_Mutation_p.C441Y	p.C441Y			Q07889	SOS1_HUMAN			11	1408	-		all_hematologic(82;0.21)	441		C -> Y (in NS4).			A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.1322G>A	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962232	0.74016	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	D;D;D	0.86865	-2.18;-2.18;-2.18	5.52	5.52	0.82312	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.93749	0.8002	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.987	D	0.93924	0.7208	10	0.87932	D	0	.	19.8	0.96502	0.0:1.0:0.0:0.0	.	173;441	F5GX06;Q07889	.;SOS1_HUMAN	Y	441;441;173;441;441	ENSP00000387784:C441Y;ENSP00000384675:C441Y;ENSP00000378479:C441Y	ENSP00000263879:C441Y	C	-	2	0	SOS1	39103751	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.666000	0.83877	2.753000	0.94483	0.557000	0.71058	TGT		0.363	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		4	112	0	0	0	0.014758	0	4	112					T	39250247	C	T	39250247	3	4	116	1	0	0	0	0	1	0	0	0	14936	478	17	2	2735	2	SOS1	2	39250247	Missense_Mutation	SNP	C	TCGA-DJ-A2QC-01A-11D-A18F-08		39250247	203949126	3	2447											
GPAT2	150763	broad.mit.edu	37	chr2	96688465	96688465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatggcgagctttgggtccGcacactctggaaagaagaga	14	8	1	3			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr2:96688465G>A	ENST00000434632.1	-	22	2681	c.2222C>T	c.(2221-2223)gCg>gTg	p.A741V	FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000359548.4_Missense_Mutation_p.A741V|GPAT2_ENST00000377137.3_Missense_Mutation_p.R657W|GPAT2_ENST00000453542.1_Missense_Mutation_p.A670V			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	741					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CTTTGGGTCCGCACACTCTGG	0.557																																						ENST00000434632.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						c.(2221-2223)gCg>gTg		glycerol-3-phosphate acyltransferase 2, mitochondrial							127	130	129					2																	96688465		1940	4129	6069	SO:0001583	missense	150763				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr2:96688465G>A	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"cancer/testis antigen 123"					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.2222C>T	2.37:g.96688465G>A	ENSP00000389395:p.Ala741Val					GPAT2_ENST00000359548.4_Missense_Mutation_p.A741V|GPAT2_ENST00000453542.1_Missense_Mutation_p.A670V|GPAT2_ENST00000377137.3_Missense_Mutation_p.R657W	p.A741V			Q6NUI2	GPAT2_HUMAN			22	2681	-			741					Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Missense_Mutation	SNP	ENST00000434632.1	37	c.2222C>T	CCDS42714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	11.68|11.68	1.709764|1.709764	0.30322|0.30322	.|.	.|.	ENSG00000186281|ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542|ENST00000377137	T;T;T|T	0.79352|0.78924	-1.26;-1.26;-0.28|-1.22	4.91|4.91	-4.54|-4.54	0.03452|0.03452	.|.	.|.	.|.	.|.	.|.	T|T	0.71013|0.71013	0.3290|0.3290	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	B;B;B;B|B	0.13145|0.02656	0.007;0.001;0.001;0.006|0.0	B;B;B;B|B	0.08055|0.01281	0.003;0.001;0.001;0.003|0.0	T|T	0.60182|0.60182	-0.7313|-0.7313	9|9	0.06757|0.66056	T|D	0.87|0.02	-15.4873|-15.4873	13.7313|13.7313	0.62789|0.62789	0.2194:0.0:0.7806:0.0|0.2194:0.0:0.7806:0.0	.|.	670;747;741;670|657	E9PE95;Q6NUI2-4;Q6NUI2;B4DNZ9|Q6NUI2-3	.;.;GPAT2_HUMAN;.|.	V|W	741;741;670|657	ENSP00000352547:A741V;ENSP00000389395:A741V;ENSP00000393770:A670V|ENSP00000366341:R657W	ENSP00000352547:A741V|ENSP00000366341:R657W	A|R	-|-	2|1	0|2	GPAT2|GPAT2	96052192|96052192	0.005000|0.005000	0.15991|0.15991	0.276000|0.276000	0.24689|0.24689	0.761000|0.761000	0.43186|0.43186	-0.030000|-0.030000	0.12308|0.12308	-0.818000|-0.818000	0.04329|0.04329	-1.269000|-1.269000	0.01422|0.01422	GCG|CGG		0.557	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328		5	206	0	0	0	0.014758	0	5	206					A	96688465	G	A	96688465	3	1	116	1	0	0	0	0	1	0	0	0	6589	1087	38	1	173	1	GPAT2	2	96688465	Missense_Mutation	SNP	G	TCGA-DJ-A2QC-01A-11D-A18F-08	57438218	96688465	146510908	4	2448											
SLC6A19	340024	broad.mit.edu	37	chr5	1219168	1219168	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatggagggcgtcgttgtgCccctgcaggacctcagagtc	14	12	1	1			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr5:1219168C>T	ENST00000304460.10	+	9	1380	c.1324C>T	c.(1324-1326)Ccc>Tcc	p.P442S		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	442					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGTCGTTGTGCCCCTGCAGGA	0.592																																						ENST00000304460.10																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(1324-1326)Ccc>Tcc		solute carrier family 6 (neutral amino acid transporter), member 19							267	214	232					5																	1219168		2203	4300	6503	SO:0001583	missense	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1219168C>T	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"Solute carriers"	27960	protein-coding gene	gene with protein product	"Hartnup disease"	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.1324C>T	5.37:g.1219168C>T	ENSP00000305302:p.Pro442Ser						p.P442S	NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		9	1380	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		442					A8K446	Missense_Mutation	SNP	ENST00000304460.10	37	c.1324C>T	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846948	0.71603	.	.	ENSG00000174358	ENST00000304460	T	0.73897	-0.79	4.55	4.55	0.56014	.	0.160921	0.56097	D	0.000023	T	0.81508	0.4837	L	0.43598	1.365	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80346	-0.1421	10	0.33940	T	0.23	.	17.2798	0.87125	0.0:1.0:0.0:0.0	.	442	Q695T7	S6A19_HUMAN	S	442	ENSP00000305302:P442S	ENSP00000305302:P442S	P	+	1	0	SLC6A19	1272168	1.000000	0.71417	0.998000	0.56505	0.549000	0.35272	7.557000	0.82243	2.081000	0.62600	0.491000	0.48974	CCC		0.592	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		3	32	0	0	0	0.009096	0	3	32					T	1219168	C	T	1219168	3	4	116	1	0	0	0	0	1	0	0	0	14682	739	26	2	1358	2	SLC6A19	5	1219168	Missense_Mutation	SNP	C	TCGA-DJ-A2QC-01A-11D-A18F-08		1219168	179696092	5	2449											
C2	717	broad.mit.edu	37	chr6	31901656	31901656	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccacagaaccctactcttAtgacttccctgaggacgtgg	8	15	1	3			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr6:31901656A>C	ENST00000299367.5	+	5	905	c.629A>C	c.(628-630)tAt>tCt	p.Y210S	CFB_ENST00000477310.1_Intron|CFB_ENST00000456570.1_Missense_Mutation_p.Y148S|C2_ENST00000452323.2_Missense_Mutation_p.Y87S|C2_ENST00000442278.2_Missense_Mutation_p.Y78S|CFB_ENST00000556679.1_Missense_Mutation_p.Y148S|C2_ENST00000418949.2_Missense_Mutation_p.Y210S|C2_ENST00000469372.1_Intron	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	210					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		CCCTACTCTTATGACTTCCCT	0.627																																						ENST00000456570.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(442-444)tAt>tCt		complement factor B							67	65	66					6																	31901656		2203	4300	6503	SO:0001583	missense	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31901656A>C		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"Complement system"	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.629A>C	6.37:g.31901656A>C	ENSP00000299367:p.Tyr210Ser					C2_ENST00000442278.2_Missense_Mutation_p.Y78S|C2_ENST00000469372.1_Intron|C2_ENST00000418949.2_Missense_Mutation_p.Y210S|CFB_ENST00000556679.1_Missense_Mutation_p.Y148S|C2_ENST00000452323.2_Missense_Mutation_p.Y87S|CFB_ENST00000477310.1_Intron|C2_ENST00000299367.5_Missense_Mutation_p.Y210S	p.Y148S			P00751	CFAB_HUMAN			4	498	+			224			Sushi 2.		B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	c.443A>C	CCDS4728.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.21|14.21	2.467545|2.467545	0.43839|0.43839	.|.	.|.	ENSG00000166278|ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000243649;ENSG00000244255	ENST00000497706;ENST00000432397;ENST00000383177|ENST00000452323;ENST00000452202;ENST00000299367;ENST00000442278;ENST00000447952;ENST00000418949;ENST00000494905;ENST00000556679;ENST00000456570	D|T;T;T;T;T;T;T;T;T	0.88509|0.77750	-2.39|-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	5.88|5.88	3.38|3.38	0.38709|0.38709	.|.	.|0.000000	.|0.35708	.|N	.|0.003040	T|T	0.78585|0.78585	0.4306|0.4306	M|M	0.78801|0.78801	2.425|2.425	0.27409|0.27409	N|N	0.954629|0.954629	B|D;P;D;P;P;P;D	0.02656|0.89917	0.0|0.998;0.855;0.996;0.855;0.855;0.886;1.0	B|P;B;P;B;B;P;D	0.04013|0.75020	0.001|0.878;0.393;0.794;0.393;0.393;0.735;0.985	T|T	0.71441|0.71441	-0.4592|-0.4592	8|10	.|0.87932	.|D	.|0	-19.5373|-19.5373	4.6929|4.6929	0.12790|0.12790	0.7456:0.0:0.0878:0.1665|0.7456:0.0:0.0878:0.1665	.|.	42|148;181;87;78;78;210;210	E9PDZ0|B4E1Z4;B4DV48;B4DPF3;E9PFN7;B4DV20;P06681;Q8N6L6	.|.;.;.;.;.;CO2_HUMAN;.	L|S	42;42;75|87;87;210;78;148;210;69;148;148	ENSP00000417482:M42L|ENSP00000392322:Y87S;ENSP00000406121:Y87S;ENSP00000299367:Y210S;ENSP00000395683:Y78S;ENSP00000391354:Y148S;ENSP00000406190:Y210S;ENSP00000419048:Y69S;ENSP00000451848:Y148S;ENSP00000410815:Y148S	.|ENSP00000299367:Y210S	M|Y	+|+	1|2	0|0	C2|CFB;C2;XXbac-BPG116M5.17	32009635|32009635	0.103000|0.103000	0.21917|0.21917	0.511000|0.511000	0.27724|0.27724	0.960000|0.960000	0.62799|0.62799	1.532000|1.532000	0.36029|0.36029	1.058000|1.058000	0.40530|0.40530	0.533000|0.533000	0.62120|0.62120	ATG|TAT		0.627	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			24	27	0	0	0	0.0918	0	24	27					C	31901656	A	C	31901656	3	2	116	1	0	0	0	0	1	0	0	0	2074	449	16	5	724	5	C2	6	31901656	Missense_Mutation	SNP	A	TCGA-DJ-A2QC-01A-11D-A18F-08		31901656	139213411	6	2450											
SLC12A9	56996	broad.mit.edu	37	chr7	100454533	100454533	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggtcctgccccagggctaCggctggaacctgctgtatgg	15	13	0	0	rs570239035		TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr7:100454533C>T	ENST00000354161.3	+	5	617	c.492C>T	c.(490-492)taC>taT	p.Y164Y	SLC12A9_ENST00000415287.1_Silent_p.Y75Y|SLC12A9_ENST00000275729.3_Silent_p.Y75Y|SLC12A9_ENST00000540482.1_Silent_p.Y164Y|SLC12A9_ENST00000428758.1_Silent_p.Y164Y	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	164					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)					CCCAGGGCTACGGCTGGAACC	0.662													C|||	1	0.000199681	8e-04	0	5008	,	,		15135	0		0	False		,,,				2504	0					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.(490-492)taC>taT		solute carrier family 12, member 9							52	54	54					7																	100454533		2203	4300	6503	SO:0001819	synonymous_variant	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100454533C>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.492C>T	7.37:g.100454533C>T						SLC12A9_ENST00000415287.1_Silent_p.Y75Y|SLC12A9_ENST00000275729.3_Silent_p.Y75Y|SLC12A9_ENST00000540482.1_Silent_p.Y164Y|SLC12A9_ENST00000428758.1_Silent_p.Y164Y	p.Y164Y	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN			5	617	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		164					B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Silent	SNP	ENST00000354161.3	37	c.492C>T	CCDS5707.1																																																																																				0.662	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		24	49	0	0	0	0.083992	0	24	49					T	100454533	C	T	100454533	2	4	116	1	0	0	0	0	0	0	0	1	14390	547	19	1		1	SLC12A9	7	100454533	Silent	SNP	C	TCGA-DJ-A2QC-01A-11D-A18F-08		100454533	58684130	7	2451											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		19	40	0	0	0	0.049695	0	19	40					T	140453136	A	T	140453136	3	4	116	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2QC-01A-11D-A18F-08	39998603	140453136	18685527	8	2452											
DOCK5	80005	broad.mit.edu	37	chr8	25253084	25253084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcagtcctctggagaatgCcatcgaaaccatggagctga	11	10	2	2			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr8:25253084C>T	ENST00000276440.7	+	45	4597	c.4553C>T	c.(4552-4554)gCc>gTc	p.A1518V		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1518	DHR-2.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CTGGAGAATGCCATCGAAACC	0.512																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(4552-4554)gCc>gTc		dedicator of cytokinesis 5							147	132	137					8																	25253084		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25253084C>T		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.4553C>T	8.37:g.25253084C>T	ENSP00000276440:p.Ala1518Val						p.A1518V	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	45	4597	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1518			DHR-2.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.4553C>T	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930204	0.92389	.	.	ENSG00000147459	ENST00000276440	T	0.35421	1.31	6.03	5.15	0.70609	.	0.055467	0.64402	N	0.000001	T	0.71256	0.3318	H	0.95224	3.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81320	-0.0986	10	0.87932	D	0	.	15.0523	0.71885	0.0:0.9326:0.0:0.0674	.	1508;1518	D3DSS6;Q9H7D0	.;DOCK5_HUMAN	V	1518	ENSP00000276440:A1518V	ENSP00000276440:A1518V	A	+	2	0	DOCK5	25309001	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	7.788000	0.85771	1.562000	0.49601	0.655000	0.94253	GCC		0.512	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		4	95	0	0	0	0.009096	0	4	95					T	25253084	C	T	25253084	3	4	116	1	0	0	0	0	1	0	0	0	4690	739	26	2	4731	2	DOCK5	8	25253084	Missense_Mutation	SNP	C	TCGA-DJ-A2QC-01A-11D-A18F-08		25253084	121110938	9	2453											
CDCA2	157313	broad.mit.edu	37	chr8	25340935	25340935	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacactgtaacaacctctaTgatgatgatgggactcatcc	8	10	2	3			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr8:25340935T>G	ENST00000330560.3	+	9	1530	c.1053T>G	c.(1051-1053)taT>taG	p.Y351*	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Nonsense_Mutation_p.Y336*	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	351					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		ACAACCTCTATGATGATGATG	0.328																																						ENST00000330560.3																			0				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35						c.(1051-1053)taT>taG		cell division cycle associated 2							89	85	86					8																	25340935		2203	4300	6503	SO:0001587	stop_gained	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25340935T>G	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 81"					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.1053T>G	8.37:g.25340935T>G	ENSP00000328228:p.Tyr351*					CDCA2_ENST00000380665.3_Nonsense_Mutation_p.Y336*|CDCA2_ENST00000521098.2_3'UTR	p.Y351*	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	9	1530	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	351					Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Nonsense_Mutation	SNP	ENST00000330560.3	37	c.1053T>G	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.913956	0.92178	.	.	ENSG00000184661	ENST00000330560;ENST00000380665	.	.	.	5.1	2.7	0.31948	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	0.3474	7.0779	0.25215	0.0:0.1858:0.0:0.8142	.	.	.	.	X	351;336	.	ENSP00000328228:Y351X	Y	+	3	2	CDCA2	25396852	0.446000	0.25665	0.002000	0.10522	0.008000	0.06430	1.655000	0.37345	0.468000	0.27243	0.477000	0.44152	TAT		0.328	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		4	46	0	0	0	0.014758	0	4	46					G	25340935	T	G	25340935	4	3	116	1	0	0	0	0	0	1	0	0	3086	1471	51	5	1083	5	CDCA2	8	25340935	Nonsense_Mutation	SNP	T	TCGA-DJ-A2QC-01A-11D-A18F-08	87851	25340935	121023087	10	2454											
ZNF251	90987	broad.mit.edu	37	chr8	145948217	145948217	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgaagacggaggtgagaattGagtccaaaagttttcccaca	11	7	0	4			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr8:145948217G>A	ENST00000292562.7	-	5	1103	c.828C>T	c.(826-828)ctC>ctT	p.L276L	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	276					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		GGTGAGAATTGAGTCCAAAAG	0.438																																						ENST00000292562.7																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17						c.(826-828)ctC>ctT		zinc finger protein 251							82	87	85					8																	145948217		2086	4244	6330	SO:0001819	synonymous_variant	90987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:145948217G>A	AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"Zinc fingers, C2H2-type", "-"	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.828C>T	8.37:g.145948217G>A						ZNF251_ENST00000524394.1_Intron	p.L276L	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)	5	1103	-	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		276					Q2M219	Silent	SNP	ENST00000292562.7	37	c.828C>T	CCDS47944.1																																																																																				0.438	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382541.1	NM_138367		6	61	0	0	0	0.021553	0	6	61					A	145948217	G	A	145948217	2	1	116	1	0	0	0	0	0	0	0	1	17793	1277	45	2		2	ZNF251	8	145948217	Silent	SNP	G	TCGA-DJ-A2QC-01A-11D-A18F-08	120607282	145948217	415805	11	2455											
TLN1	7094	broad.mit.edu	37	chr9	35716532	35716532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtggcttgggccaggatgCgggcctgtcgcaccatctcc	14	13	1	0	rs372987518		TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr9:35716532C>T	ENST00000314888.9	-	20	2833	c.2480G>A	c.(2479-2481)cGc>cAc	p.R827H	TLN1_ENST00000540444.1_Missense_Mutation_p.R827H	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	827					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)	p.R827H(1)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGCCAGGATGCGGGCCTGTCG	0.587																																						ENST00000314888.9																			1	Substitution - Missense(1)	p.R827H(1)	prostate(1)	NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(2479-2481)cGc>cAc		talin 1		C	HIS/ARG	0,4406		0,0,2203	94	87	89		2480	6.1	1.0	9		89	1,8599	1.2+/-3.3	0,1,4299	no	missense	TLN1	NM_006289.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	827/2542	35716532	1,13005	2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35716532C>T	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.2480G>A	9.37:g.35716532C>T	ENSP00000316029:p.Arg827His					TLN1_ENST00000540444.1_Missense_Mutation_p.R827H	p.R827H	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		20	2833	-	all_epithelial(49;0.167)		827					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.2480G>A	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	36	5.856297	0.97030	0.0	1.16E-4	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.71698	-0.57;-0.59	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.85500	0.5711	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	D	0.85916	0.1443	10	0.87932	D	0	-10.0317	20.6208	0.99490	0.0:1.0:0.0:0.0	.	827	Q9Y490	TLN1_HUMAN	H	827	ENSP00000316029:R827H;ENSP00000442981:R827H	ENSP00000316029:R827H	R	-	2	0	TLN1	35706532	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.882000	0.98803	0.655000	0.94253	CGC		0.587	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		4	90	0	0	0	0.009096	0	4	90					T	35716532	C	T	35716532	3	4	116	1	0	0	0	0	1	0	0	0	15944	768	27	1	5297	1	TLN1	9	35716532	Missense_Mutation	SNP	C	TCGA-DJ-A2QC-01A-11D-A18F-08		35716532	105496899	12	2456											
SEC31B	25956	broad.mit.edu	37	chr10	102267770	102267770	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagaatgtgttgggcttgCcggttccaagacagtgcctt	13	9	0	2			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr10:102267770C>T	ENST00000370345.3	-	6	631	c.534G>A	c.(532-534)cgG>cgA	p.R178R	NDUFB8_ENST00000531258.1_3'UTR|SEC31B_ENST00000370329.5_Silent_p.R181R|SEC31B_ENST00000451524.1_Silent_p.R178R|SEC31B_ENST00000535773.1_Silent_p.R21R|NDUFB8_ENST00000557395.1_3'UTR	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	178					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GTTGGGCTTGCCGGTTCCAAG	0.517																																						ENST00000370345.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36						c.(532-534)cgG>cgA		SEC31 homolog B (S. cerevisiae)							191	164	173					10																	102267770		2203	4300	6503	SO:0001819	synonymous_variant	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102267770C>T	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"WD repeat domain containing"	23197	protein-coding gene	gene with protein product		610258	"SEC31-like 2 (S. cerevisiae)"	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.534G>A	10.37:g.102267770C>T						NDUFB8_ENST00000557395.1_3'UTR|SEC31B_ENST00000535773.1_Silent_p.R21R|SEC31B_ENST00000451524.1_Silent_p.R178R|SEC31B_ENST00000370329.5_Silent_p.R181R|NDUFB8_ENST00000531258.1_3'UTR	p.R178R	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	6	631	-		Colorectal(252;0.117)	178					B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Silent	SNP	ENST00000370345.3	37	c.534G>A	CCDS7495.1																																																																																				0.517	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		4	123	0	0	0	0.014758	0	4	123					T	102267770	C	T	102267770	2	4	116	1	0	0	0	0	0	0	0	1	13999	726	26	2		2	SEC31B	10	102267770	Silent	SNP	C	TCGA-DJ-A2QC-01A-11D-A18F-08		102267770	33266977	13	2457											
KCNK18	338567	broad.mit.edu	37	chr10	118969513	118969513	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacatccccctccccatcatTgcccttattgtttttgccta	4	16	1	0			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr10:118969513T>G	ENST00000334549.1	+	3	858	c.858T>G	c.(856-858)atT>atG	p.I286M		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	286					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		TCCCCATCATTGCCCTTATTG	0.502																																						ENST00000334549.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41						c.(856-858)atT>atG		potassium channel, subfamily K, member 18							236	200	212					10																	118969513		2203	4300	6503	SO:0001583	missense	338567					integral to membrane|plasma membrane		g.chr10:118969513T>G	AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	19439	protein-coding gene	gene with protein product	"TWIK related spinal cord K+ channel"	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.858T>G	10.37:g.118969513T>G	ENSP00000334650:p.Ile286Met						p.I286M	NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN		all cancers(201;0.0211)	3	858	+		Colorectal(252;0.19)	286					Q5SQQ8	Missense_Mutation	SNP	ENST00000334549.1	37	c.858T>G	CCDS7598.1	.	.	.	.	.	.	.	.	.	.	T	5.797	0.331417	0.10956	.	.	ENSG00000186795	ENST00000334549	D	0.96136	-3.92	5.4	-7.44	0.01379	.	0.101991	0.64402	D	0.000003	D	0.89171	0.6639	L	0.38175	1.15	0.27554	N	0.950419	B	0.14012	0.009	B	0.29176	0.099	T	0.75875	-0.3163	10	0.40728	T	0.16	.	7.702	0.28627	0.082:0.1148:0.1067:0.6965	.	286	Q7Z418	KCNKI_HUMAN	M	286	ENSP00000334650:I286M	ENSP00000334650:I286M	I	+	3	3	KCNK18	118959503	0.011000	0.17503	0.001000	0.08648	0.001000	0.01503	-0.214000	0.09292	-1.528000	0.01756	-0.250000	0.11733	ATT		0.502	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840		12	129	0	0	0	0.080935	0	12	129					G	118969513	T	G	118969513	3	3	116	1	0	0	0	0	1	0	0	0	8065	1800	63	5	868	5	KCNK18	10	118969513	Missense_Mutation	SNP	T	TCGA-DJ-A2QC-01A-11D-A18F-08	16701743	118969513	16565234	14	2458											
OR6Q1	219952	broad.mit.edu	37	chr11	57798858	57798858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgtgtcctggggcacctGcatccgtctggcagctgcct	12	13	1	0			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr11:57798858G>A	ENST00000302622.3	+	1	457	c.434G>A	c.(433-435)tGc>tAc	p.C145Y	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TGGGGCACCTGCATCCGTCTG	0.517																																						ENST00000302622.3																			0				biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(433-435)tGc>tAc		olfactory receptor, family 6, subfamily Q, member 1							133	123	126					11																	57798858		2201	4296	6497	SO:0001583	missense	219952				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57798858G>A	AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"GPCR / Class A : Olfactory receptors"	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.434G>A	11.37:g.57798858G>A	ENSP00000307734:p.Cys145Tyr					OR9Q1_ENST00000335397.3_Intron	p.C145Y	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN			1	457	+		Breast(21;0.0707)|all_epithelial(135;0.142)	145					B9EKW1|Q6IFH1|Q96R34	Missense_Mutation	SNP	ENST00000302622.3	37	c.434G>A	CCDS31541.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.601961	0.66445	.	.	ENSG00000172381	ENST00000302622	T	0.00237	8.47	5.04	5.04	0.67666	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41938	D	0.000781	T	0.00637	0.0021	M	0.85710	2.77	0.44417	D	0.997335	D	0.59357	0.985	D	0.66602	0.945	T	0.75852	-0.3171	10	0.62326	D	0.03	.	17.1737	0.86836	0.0:0.0:1.0:0.0	.	145	Q8NGQ2	OR6Q1_HUMAN	Y	145	ENSP00000307734:C145Y	ENSP00000307734:C145Y	C	+	2	0	OR6Q1	57555434	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	4.957000	0.63652	2.340000	0.79590	0.643000	0.83706	TGC		0.517	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1	NM_001005186		4	87	0	0	0	0.009096	0	4	87					A	57798858	G	A	57798858	3	1	116	1	0	0	0	0	1	0	0	0	11208	1319	46	2	436	2	OR6Q1	11	57798858	Missense_Mutation	SNP	G	TCGA-DJ-A2QC-01A-11D-A18F-08		57798858	77207658	15	2459											
OR4K2	390431	broad.mit.edu	37	chr14	20345045	20345045	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcaacaagtggcataattGcgttgtcctgttttattgtt	8	7	1	0	rs145713695		TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr14:20345045G>T	ENST00000298642.2	+	1	655	c.619G>T	c.(619-621)Gcg>Tcg	p.A207S		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGCATAATTGCGTTGTCCTG	0.403																																						ENST00000298642.2																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43						c.(619-621)Gcg>Tcg		olfactory receptor, family 4, subfamily K, member 2							314	314	314					14																	20345045		2203	4300	6503	SO:0001583	missense	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20345045G>T		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"GPCR / Class A : Olfactory receptors"	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.619G>T	14.37:g.20345045G>T	ENSP00000298642:p.Ala207Ser						p.A207S	NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	655	+	all_cancers(95;0.00108)		207					B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	c.619G>T	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	0.024	-1.390733	0.01185	.	.	ENSG00000165762	ENST00000298642	T	0.36878	1.23	5.0	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.139136	0.32884	N	0.005535	T	0.22513	0.0543	N	0.21097	0.63	0.27743	N	0.944408	B	0.20671	0.047	B	0.31946	0.138	T	0.23154	-1.0196	10	0.02654	T	1	.	10.7154	0.46008	0.0:0.0:0.6854:0.3146	.	207	Q8NGD2	OR4K2_HUMAN	S	207	ENSP00000298642:A207S	ENSP00000298642:A207S	A	+	1	0	OR4K2	19414885	0.000000	0.05858	0.994000	0.49952	0.280000	0.26924	0.083000	0.14871	2.596000	0.87737	0.467000	0.42956	GCG		0.403	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			11	354	1	0	0.000673444	0.069234	0.000905666	11	354					T	20345045	G	T	20345045	3	4	116	1	0	0	0	0	1	0	0	0	11072	1319	46	4	621	4	OR4K2	14	20345045	Missense_Mutation	SNP	G	TCGA-DJ-A2QC-01A-11D-A18F-08		20345045	87004495	16	2460											
ANKRD11	29123	broad.mit.edu	37	chr16	89352008	89352008	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gagtccgtgttgttgccgtcGactgaactggaaggtgcgaa	15	8	0	1			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr16:89352008G>C	ENST00000301030.4	-	9	1402	c.942C>G	c.(940-942)gtC>gtG	p.V314V	ANKRD11_ENST00000378330.2_Silent_p.V314V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	314					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGTTGCCGTCGACTGAACTGG	0.572																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(940-942)gtC>gtG		ankyrin repeat domain 11							163	135	144					16																	89352008		2198	4300	6498	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89352008G>C	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.942C>G	16.37:g.89352008G>C						ANKRD11_ENST00000378330.2_Silent_p.V314V	p.V314V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	1402	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	314					Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.942C>G	CCDS32513.1																																																																																				0.572	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		6	105	0	0	0	0.02938	0	6	105					C	89352008	G	C	89352008	2	2	116	1	0	0	0	0	0	0	0	1	639	1045	37	4		4	ANKRD11	16	89352008	Silent	SNP	G	TCGA-DJ-A2QC-01A-11D-A18F-08		89352008	1002745	17	2461											
BRIP1	83990	broad.mit.edu	37	chr17	59861733	59861733	+	Missense_Mutation	SNP	C	C	A													cttctcttgcctcctctttaCcataaattggtgagattttt							TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr17:59861733C>A	ENST00000259008.2	-	11	1793	c.1526G>T	c.(1525-1527)gGt>gTt	p.G509V	BRIP1_ENST00000577598.1_Missense_Mutation_p.G509V	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	509					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						CTCCTCTTTACCATAAATTGG	0.348			"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.(1525-1527)gGt>gTt	Involved in tolerance or repair of DNA crosslinks	BRCA1 interacting protein C-terminal helicase 1							153	163	159					17																	59861733		2203	4297	6500	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.chr17:59861733C>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.1526G>T	17.37:g.59861733C>A	ENSP00000259008:p.Gly509Val					BRIP1_ENST00000577598.1_Missense_Mutation_p.G509V	p.G509V	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN			11	1793	-			509					Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	c.1526G>T	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829752	0.71258	.	.	ENSG00000136492	ENST00000259008	T	0.75704	-0.96	5.37	5.37	0.77165	.	0.048523	0.85682	D	0.000000	D	0.83073	0.5175	M	0.65320	2	0.80722	D	1	D	0.69078	0.997	P	0.62435	0.902	T	0.82600	-0.0377	9	.	.	.	-11.626	17.6661	0.88203	0.0:1.0:0.0:0.0	.	509	Q9BX63	FANCJ_HUMAN	V	509	ENSP00000259008:G509V	.	G	-	2	0	BRIP1	57216515	1.000000	0.71417	0.999000	0.59377	0.528000	0.34623	4.787000	0.62432	2.530000	0.85305	0.561000	0.74099	GGT		0.348	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		6	202	1	0	8.12818e-05	0.02938	0.000113214	6	202					A	59861733	C	A	59861733	3	1	116	1	0	0	0	0	1	0	0	0	1514	507	18	4	2263	4	BRIP1	17	59861733	Missense_Mutation	SNP	C	TCGA-DJ-A2QC-01A-11D-A18F-08		59861733	21333477	18	2462	13	2									
BRIP1	83990	broad.mit.edu	37	chr17	59861734	59861734	+	Missense_Mutation	SNP	C	C	A													ttctcttgcctcctctttacCataaattggtgagatttttt							TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr17:59861734C>A	ENST00000259008.2	-	11	1792	c.1525G>T	c.(1525-1527)Ggt>Tgt	p.G509C	BRIP1_ENST00000577598.1_Missense_Mutation_p.G509C	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	509					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						TCCTCTTTACCATAAATTGGT	0.343			"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.(1525-1527)Ggt>Tgt	Involved in tolerance or repair of DNA crosslinks	BRCA1 interacting protein C-terminal helicase 1							152	162	159					17																	59861734		2203	4297	6500	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.chr17:59861734C>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.1525G>T	17.37:g.59861734C>A	ENSP00000259008:p.Gly509Cys					BRIP1_ENST00000577598.1_Missense_Mutation_p.G509C	p.G509C	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN			11	1792	-			509					Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	c.1525G>T	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.411112	0.62399	.	.	ENSG00000136492	ENST00000259008	T	0.76060	-0.99	5.37	4.4	0.53042	.	0.048523	0.85682	D	0.000000	D	0.84674	0.5524	M	0.76838	2.35	0.58432	D	0.999999	D	0.89917	1.0	D	0.75020	0.985	D	0.85264	0.1052	9	.	.	.	-11.626	12.6391	0.56698	0.0:0.9196:0.0:0.0804	.	509	Q9BX63	FANCJ_HUMAN	C	509	ENSP00000259008:G509C	.	G	-	1	0	BRIP1	57216516	1.000000	0.71417	0.997000	0.53966	0.530000	0.34684	3.784000	0.55416	1.283000	0.44513	0.561000	0.74099	GGT		0.343	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		6	199	1	0	8.12818e-05	0.02938	0.000113214	6	199					A	59861734	C	A	59861734	3	1	116	1	0	0	0	0	1	0	0	0	1514	594	21	4	2264	4	BRIP1	17	59861734	Missense_Mutation	SNP	C	TCGA-DJ-A2QC-01A-11D-A18F-08	1	59861734	21333476	19	2463	13	2									
NANOS3	342977	broad.mit.edu	37	chr19	13991282	13991282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtgccgggaagtctgagCcttcgccctcctgctctccc	12	16	2	1			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr19:13991282C>T	ENST00000397555.2	+	3	487	c.487C>T	c.(487-489)Cct>Tct	p.P163S	NANOS3_ENST00000591727.1_3'UTR|NANOS3_ENST00000339133.5_Missense_Mutation_p.P182S	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	163					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)			breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GAAGTCTGAGCCTTCGCCCTC	0.607											OREG0025300	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000397555.2																			0				breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7						c.(487-489)Cct>Tct		nanos homolog 3 (Drosophila)							94	100	98					19																	13991282		2052	4190	6242	SO:0001583	missense	342977				anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding	g.chr19:13991282C>T	BM702754	CCDS42511.1	19p13.13	2003-12-01				ENSG00000187556			22048	protein-coding gene	gene with protein product		608229					Standard	NM_001098622		Approved	NANOS1L, NOS3	uc002mxj.4	P60323		ENST00000397555.2:c.487C>T	19.37:g.13991282C>T	ENSP00000380687:p.Pro163Ser		OREG0025300	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	691	NANOS3_ENST00000591727.1_5'UTR|NANOS3_ENST00000339133.5_Missense_Mutation_p.P182S|NANOS3_ENST00000591161.1_5'UTR	p.P163S	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		3	487	+			163					Q495E5	Missense_Mutation	SNP	ENST00000397555.2	37	c.487C>T		.	.	.	.	.	.	.	.	.	.	C	10.18	1.279323	0.23307	.	.	ENSG00000187556	ENST00000339133;ENST00000397555	T;T	0.49139	0.79;0.87	3.74	-0.881	0.10607	.	3.253730	0.01451	N	0.015480	T	0.24661	0.0598	.	.	.	0.09310	N	1	B	0.20671	0.047	B	0.16289	0.015	T	0.05699	-1.0869	9	0.15066	T	0.55	-5.9766	0.9202	0.01313	0.1983:0.4203:0.167:0.2144	.	182	P60323-2	.	S	182;163	ENSP00000341992:P182S;ENSP00000380687:P163S	ENSP00000341992:P182S	P	+	1	0	NANOS3	13852282	0.019000	0.18553	0.001000	0.08648	0.004000	0.04260	-0.282000	0.08445	-0.046000	0.13446	-0.224000	0.12420	CCT		0.607	NANOS3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_292819		5	67	0	0	0	0.014758	0	5	67					T	13991282	C	T	13991282	3	4	116	1	0	0	0	0	1	0	0	0	10153	739	26	2	550	2	NANOS3	19	13991282	Missense_Mutation	SNP	C	TCGA-DJ-A2QC-01A-11D-A18F-08		13991282	45137701	20	2464											
YPEL1	29799	broad.mit.edu	37	chr22	22055423	22055423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggaaagttcgcacattactCccagccattgtctttgatca	8	11	2	1	rs374724181		TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr22:22055423C>T	ENST00000339468.3	-	5	738	c.355G>A	c.(355-357)Gag>Aag	p.E119K		NM_013313.3	NP_037445.1	O60688	YPEL1_HUMAN	yippee-like 1 (Drosophila)	119						nucleus (GO:0005634)				breast(1)|large_intestine(1)|lung(1)	3	Colorectal(54;0.105)					GCACATTACTCCCAGCCATTG	0.408																																						ENST00000339468.3																			0				breast(1)|large_intestine(1)|lung(1)	3						c.(355-357)Gag>Aag		yippee-like 1 (Drosophila)							138	117	124					22																	22055423		2203	4300	6503	SO:0001583	missense	29799					nucleus		g.chr22:22055423C>T	AF060862	CCDS13794.1	22q11.2	2008-02-04	2001-11-28		ENSG00000100027	ENSG00000100027			12845	protein-coding gene	gene with protein product		608082	"yippee (Drosophila) homolog-like 1"			11473580	Standard	NM_013313		Approved		uc002zvl.3	O60688	OTTHUMG00000150830	ENST00000339468.3:c.355G>A	22.37:g.22055423C>T	ENSP00000342832:p.Glu119Lys						p.E119K	NM_013313.3	NP_037445.1	O60688	YPEL1_HUMAN			5	738	-	Colorectal(54;0.105)		119					Q65ZA1|Q6GLI6	Missense_Mutation	SNP	ENST00000339468.3	37	c.355G>A	CCDS13794.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320460	0.81469	.	.	ENSG00000100027	ENST00000339468	.	.	.	4.28	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.49830	0.1580	L	0.45352	1.415	0.80722	D	1	B	0.32717	0.381	B	0.23419	0.046	T	0.58289	-0.7662	9	0.72032	D	0.01	.	18.0829	0.89447	0.0:1.0:0.0:0.0	.	119	O60688	YPEL1_HUMAN	K	119	.	ENSP00000342832:E119K	E	-	1	0	YPEL1	20385423	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	5.799000	0.69101	2.684000	0.91462	0.650000	0.86243	GAG		0.408	YPEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320245.1	NM_013313		3	30	0	0	0	0.009096	0	3	30					T	22055423	C	T	22055423	3	4	116	1	0	0	0	0	1	0	0	0	17486	864	30	2	8	2	YPEL1	22	22055423	Missense_Mutation	SNP	C	TCGA-DJ-A2QC-01A-11D-A18F-08		22055423	29249143	21	2465											
APOL6	80830	broad.mit.edu	37	chr22	36055153	36055153	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaaacaccttgaagtatgCcaagaaaaacgtccgtgcat	8	9	0	3			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr22:36055153C>T	ENST00000409652.4	+	3	818	c.542C>T	c.(541-543)gCc>gTc	p.A181V		NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN	apolipoprotein L, 6	181					lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						TTGAAGTATGCCAAGAAAAAC	0.498																																						ENST00000409652.3																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						c.(541-543)gCc>gTc		apolipoprotein L, 6							67	70	69					22																	36055153		2203	4300	6503	SO:0001583	missense	80830				lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity	g.chr22:36055153C>T	AY014879	CCDS13919.1	22q12.3	2013-01-24			ENSG00000221963	ENSG00000221963		"Apolipoproteins"	14870	protein-coding gene	gene with protein product		607256				11374903, 15671246	Standard	NM_030641		Approved	APOL-VI, APOLVI	uc003aoe.3	Q9BWW8	OTTHUMG00000150615	ENST00000409652.4:c.542C>T	22.37:g.36055153C>T	ENSP00000386280:p.Ala181Val						p.A181V	NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN			3	818	+			181					Q5R3S1|Q658J1|Q8IXX6|Q9UGG1	Missense_Mutation	SNP	ENST00000409652.4	37	c.542C>T	CCDS13919.1	.	.	.	.	.	.	.	.	.	.	C	6.067	0.380716	0.11466	.	.	ENSG00000221963	ENST00000409652	T	0.03181	4.02	4.21	2.06	0.26882	.	1.264280	0.05701	N	0.593991	T	0.03178	0.0093	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.48747	-0.9008	10	0.20046	T	0.44	-26.4403	6.2498	0.20839	0.0:0.2207:0.0:0.7793	.	181	Q9BWW8	APOL6_HUMAN	V	181	ENSP00000386280:A181V	ENSP00000386280:A181V	A	+	2	0	APOL6	34385099	0.056000	0.20664	0.000000	0.03702	0.002000	0.02628	1.790000	0.38734	0.284000	0.22305	-0.302000	0.09304	GCC		0.498	APOL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319081.2	NM_030641		4	80	0	0	0	0.014758	0	4	80					T	36055153	C	T	36055153	3	4	116	1	0	0	0	0	1	0	0	0	810	739	26	2	548	2	APOL6	22	36055153	Missense_Mutation	SNP	C	TCGA-DJ-A2QC-01A-11D-A18F-08	13999730	36055153	15249413	22	2466											
MTM1	4534	broad.mit.edu	37	chrX	149832053	149832053	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactctgggtgaattactacAttagatggaaccccaggatc	9	9	1	2			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chrX:149832053A>G	ENST00000370396.2	+	14	1669	c.1615A>G	c.(1615-1617)Att>Gtt	p.I539V	MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000542741.1_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.I424V|MTM1_ENST00000413012.2_Missense_Mutation_p.I502V	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	539					endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					GAATTACTACATTAGATGGAA	0.363																																						ENST00000370396.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1615-1617)Att>Gtt		myotubularin 1							88	76	80					X																	149832053		2203	4299	6502	SO:0001583	missense	4534				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chrX:149832053A>G	U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7448	protein-coding gene	gene with protein product		300415	"myotubular myopathy 1"				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.1615A>G	X.37:g.149832053A>G	ENSP00000359423:p.Ile539Val					MTM1_ENST00000542741.1_3'UTR|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000413012.2_Missense_Mutation_p.I502V|MTM1_ENST00000543350.1_Missense_Mutation_p.I424V	p.I539V	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN			14	1669	+	Acute lymphoblastic leukemia(192;6.56e-05)		539					A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	ENST00000370396.2	37	c.1615A>G	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	A	10.98	1.503342	0.26949	.	.	ENSG00000171100	ENST00000370396;ENST00000543350;ENST00000413012	D;D;D	0.90004	-2.6;-2.6;-2.6	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.85035	0.5605	L	0.49513	1.565	0.48135	D	0.999592	B;B	0.14438	0.01;0.002	B;B	0.16289	0.015;0.006	T	0.80120	-0.1515	10	0.15499	T	0.54	.	14.4648	0.67477	1.0:0.0:0.0:0.0	.	502;539	B7Z491;Q13496	.;MTM1_HUMAN	V	539;424;502	ENSP00000359423:I539V;ENSP00000439784:I424V;ENSP00000389157:I502V	ENSP00000359423:I539V	I	+	1	0	MTM1	149582711	1.000000	0.71417	0.970000	0.41538	0.982000	0.71751	7.119000	0.77145	1.795000	0.52594	0.417000	0.27973	ATT		0.363	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	NM_000252		4	120	0	0	0	0.014758	0	4	120					G	149832053	A	G	149832053	3	3	116	1	0	0	0	0	1	0	0	0	9937	217	8	3	1665	3	MTM1	23	149832053	Missense_Mutation	SNP	A	TCGA-DJ-A2QC-01A-11D-A18F-08		149832053	5438507	23	2467											
BRE	9577	broad.mit.edu	37	chr2	28152748	28152748	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgaccgatttaaactgcacAtaccatatgctggagagaca	9	9	0	2			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr2:28152748A>T	ENST00000342045.2	+	4	319	c.178A>T	c.(178-180)Ata>Tta	p.I60L	BRE_ENST00000361704.2_Missense_Mutation_p.I60L|BRE_ENST00000379632.2_Missense_Mutation_p.I60L|BRE_ENST00000344773.2_Missense_Mutation_p.I60L|BRE_ENST00000379624.1_Missense_Mutation_p.I60L|BRE_ENST00000603461.1_3'UTR	NM_199194.2	NP_954664.1			brain and reproductive organ-expressed (TNFRSF1A modulator)											NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					TAAACTGCACATACCATATGC	0.343																																						ENST00000344773.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23						c.(178-180)Ata>Tta		brain and reproductive organ-expressed (TNFRSF1A modulator)							92	88	89					2																	28152748		2203	4300	6503	SO:0001583	missense	9577				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding	g.chr2:28152748A>T	AF015767	CCDS1763.1, CCDS1764.1, CCDS1765.1	2p23	2008-02-05			ENSG00000158019	ENSG00000158019			1106	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 4"	610497				9737713, 7826398	Standard	NM_004899		Approved	BRCC45, BRCC4	uc002rls.3	Q9NXR7	OTTHUMG00000097831	ENST00000342045.2:c.178A>T	2.37:g.28152748A>T	ENSP00000339371:p.Ile60Leu					BRE_ENST00000342045.2_Missense_Mutation_p.I60L|BRE_ENST00000361704.2_Missense_Mutation_p.I60L|BRE_ENST00000379624.1_Missense_Mutation_p.I60L|BRE_ENST00000603461.1_3'UTR|BRE_ENST00000379632.2_Missense_Mutation_p.I60L	p.I60L	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN			3	316	+	Acute lymphoblastic leukemia(172;0.155)		60			UEV-like 1.			Missense_Mutation	SNP	ENST00000342045.2	37	c.178A>T	CCDS1763.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.352849	0.82132	.	.	ENSG00000158019	ENST00000436924;ENST00000344773;ENST00000379624;ENST00000342045;ENST00000379632;ENST00000361704;ENST00000379629	T	0.51574	0.7	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.56321	0.1977	L	0.48642	1.525	0.58432	D	0.999991	P;B;B;P	0.38863	0.65;0.241;0.202;0.65	P;B;B;P	0.54140	0.743;0.117;0.071;0.658	T	0.55179	-0.8181	10	0.41790	T	0.15	-17.2749	12.5917	0.56447	1.0:0.0:0.0:0.0	.	60;60;60;60	Q9NXR7-1;Q9NXR7;Q9NXR7-4;Q9NXR7-3	.;BRE_HUMAN;.;.	L	60	ENSP00000368950:I60L	ENSP00000339371:I60L	I	+	1	0	BRE	28006252	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.169000	0.77578	2.017000	0.59298	0.533000	0.62120	ATA		0.343	BRE-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215114.1			3	81	0	0	0	1	0	3	81					T	28152748	A	T	28152748	3	4	117	1	0	0	0	0	1	0	0	0	1509	217	8	5	184	5	BRE	2	28152748	Missense_Mutation	SNP	A	TCGA-DJ-A3UK-01A-11D-A22D-08		28152748	215046625	1	2468											
ABI3BP	25890	broad.mit.edu	37	chr3	100473513	100473513	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccttcaccaagcgggttttTgggtttcacctggaattcat	10	10	3	0			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr3:100473513T>G	ENST00000284322.5	-	31	2849	c.2740A>C	c.(2740-2742)Aaa>Caa	p.K914Q	ABI3BP_ENST00000383691.4_Missense_Mutation_p.K868Q|ABI3BP_ENST00000471714.1_Missense_Mutation_p.K1616Q	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	914	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						AGCGGGTTTTTGGGTTTCACC	0.413																																						ENST00000471714.1																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(4846-4848)Aaa>Caa		ABI family, member 3 (NESH) binding protein							81	73	75					3																	100473513		1844	4094	5938	SO:0001583	missense	25890					extracellular space		g.chr3:100473513T>G	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"Fibronectin type III domain containing"	17265	protein-coding gene	gene with protein product	"target of Nesh-SH3"	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.2740A>C	3.37:g.100473513T>G	ENSP00000284322:p.Lys914Gln					ABI3BP_ENST00000284322.5_Missense_Mutation_p.K914Q|ABI3BP_ENST00000383691.4_Missense_Mutation_p.K868Q	p.K1616Q			Q7Z7G0	TARSH_HUMAN			63	4955	-			914					B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	c.4846A>C	CCDS46880.1	.	.	.	.	.	.	.	.	.	.	T	18.96	3.733795	0.69189	.	.	ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000383692;ENST00000429331;ENST00000383691	T;T;T	0.56275	0.47;0.47;0.47	5.68	5.68	0.88126	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.207410	0.49916	D	0.000128	T	0.67468	0.2896	M	0.76328	2.33	0.46798	D	0.999207	P;B;D;D	0.61697	0.873;0.058;0.99;0.973	P;B;P;P	0.56751	0.663;0.139;0.805;0.787	T	0.67979	-0.5530	10	0.37606	T	0.19	-13.8888	15.9179	0.79535	0.0:0.0:0.0:1.0	.	868;914;1616;623	B4DSV9;Q7Z7G0;D3YTG3;D3YTD6	.;TARSH_HUMAN;.;.	Q	1616;914;623;325;868	ENSP00000420524:K1616Q;ENSP00000284322:K914Q;ENSP00000373189:K868Q	ENSP00000284322:K914Q	K	-	1	0	ABI3BP	101956203	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.738000	0.68613	2.157000	0.67596	0.455000	0.32223	AAA		0.413	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			2	11	0	0	0	1	0	2	11					G	100473513	T	G	100473513	3	3	117	1	0	0	0	0	1	0	0	0	91	1821	63	5	507	5	ABI3BP	3	100473513	Missense_Mutation	SNP	T	TCGA-DJ-A3UK-01A-11D-A22D-08		100473513	97548917	2	2469											
ATP6V1A	523	broad.mit.edu	37	chr3	113505224	113505224	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagagagtccttgatgcccTttttccgtaagtttgagatg	10	9	0	3			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr3:113505224T>C	ENST00000273398.3	+	6	818	c.710T>C	c.(709-711)cTt>cCt	p.L237P	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.L204P	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	237					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	CTTGATGCCCTTTTTCCGTAA	0.423																																						ENST00000273398.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(709-711)cTt>cCt		ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A							219	201	207					3																	113505224		2203	4300	6503	SO:0001583	missense	523				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr3:113505224T>C	L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"ATPases / V-type"	851	protein-coding gene	gene with protein product		607027	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.710T>C	3.37:g.113505224T>C	ENSP00000273398:p.Leu237Pro					ATP6V1A_ENST00000538620.1_Missense_Mutation_p.L204P	p.L237P	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN			6	818	+			237					B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Missense_Mutation	SNP	ENST00000273398.3	37	c.710T>C	CCDS2976.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.972517	0.74246	.	.	ENSG00000114573	ENST00000273398;ENST00000538620	D;D	0.84223	-1.82;-1.82	5.33	4.17	0.49024	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.94062	0.8097	H	0.96208	3.785	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	D	0.94260	0.7501	10	0.87932	D	0	-16.1423	10.9912	0.47551	0.0:0.0737:0.0:0.9263	.	237	P38606	VATA_HUMAN	P	237;204	ENSP00000273398:L237P;ENSP00000439874:L204P	ENSP00000273398:L237P	L	+	2	0	ATP6V1A	114987914	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.484000	0.81180	0.873000	0.35799	-0.353000	0.07706	CTT		0.423	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690		4	255	0	0	0	1	0	4	255					C	113505224	T	C	113505224	3	2	117	1	0	0	0	0	1	0	0	0	1177	1609	56	3	728	3	ATP6V1A	3	113505224	Missense_Mutation	SNP	T	TCGA-DJ-A3UK-01A-11D-A22D-08	13031711	113505224	84517206	3	2470											
LDB2	9079	broad.mit.edu	37	chr4	16900067	16900067	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcctcctataaaatgggccGaaaggagaagaatagaaggg	13	6	0	3			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr4:16900067G>A	ENST00000304523.5	-	1	365	c.42C>T	c.(40-42)ttC>ttT	p.F14F	LDB2_ENST00000441778.2_Silent_p.F14F|LDB2_ENST00000515064.1_Silent_p.F14F|LDB2_ENST00000502640.1_Silent_p.F14F	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	14					epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						AAAATGGGCCGAAAGGAGAAG	0.458																																						ENST00000502640.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						c.(40-42)ttC>ttT		LIM domain binding 2							196	173	181					4																	16900067		2203	4300	6503	SO:0001819	synonymous_variant	9079						LIM domain binding|transcription cofactor activity	g.chr4:16900067G>A	AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.42C>T	4.37:g.16900067G>A						LDB2_ENST00000441778.2_Silent_p.F14F|LDB2_ENST00000515064.1_Silent_p.F14F|LDB2_ENST00000304523.5_Silent_p.F14F	p.F14F			O43679	LDB2_HUMAN			1	190	-			14					O60619|O75480	Silent	SNP	ENST00000304523.5	37	c.42C>T	CCDS3420.1																																																																																				0.458	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250321.2			3	79	0	0	0	1	0	3	79					A	16900067	G	A	16900067	2	1	117	1	0	0	0	0	0	0	0	1	8696	1049	37	1		1	LDB2	4	16900067	Silent	SNP	G	TCGA-DJ-A3UK-01A-11D-A22D-08		16900067	174254209	4	2471											
KIAA1211	57482	broad.mit.edu	37	chr4	57182522	57182522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccggagcacgacaaggcaGcaaacaaaatgccactggca	10	13	0	0			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr4:57182522G>A	ENST00000504228.1	+	6	2959	c.2854G>A	c.(2854-2856)Gca>Aca	p.A952T	KIAA1211_ENST00000541073.1_Missense_Mutation_p.A945T|KIAA1211_ENST00000264229.6_Missense_Mutation_p.A952T			Q6ZU35	K1211_HUMAN	KIAA1211	952	Pro-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CGACAAGGCAGCAAACAAAAT	0.632																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(2854-2856)Gca>Aca		KIAA1211							46	56	53					4																	57182522		2084	4210	6294	SO:0001583	missense	57482							g.chr4:57182522G>A	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2854G>A	4.37:g.57182522G>A	ENSP00000423366:p.Ala952Thr					KIAA1211_ENST00000264229.6_Missense_Mutation_p.A952T|KIAA1211_ENST00000541073.1_Missense_Mutation_p.A945T	p.A952T			Q6ZU35	K1211_HUMAN			6	2959	+	Glioma(25;0.08)|all_neural(26;0.101)		952			Pro-rich.		Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.2854G>A	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	9.111	1.006633	0.19199	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073	T;T;T	0.12774	2.66;2.66;2.65	4.74	3.9	0.45041	.	.	.	.	.	T	0.16128	0.0388	L	0.54323	1.7	0.09310	N	1	B;B;B	0.19073	0.033;0.013;0.013	B;B;B	0.15484	0.013;0.013;0.013	T	0.11131	-1.0600	9	0.45353	T	0.12	-7.1922	13.2293	0.59933	0.0771:0.0:0.9229:0.0	.	945;945;952	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	T	952;952;945	ENSP00000264229:A952T;ENSP00000423366:A952T;ENSP00000444006:A945T	ENSP00000264229:A952T	A	+	1	0	KIAA1211	56877279	0.159000	0.22864	0.035000	0.18076	0.203000	0.24098	2.569000	0.45973	1.215000	0.43411	-0.448000	0.05591	GCA		0.632	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		3	63	0	0	0	1	0	3	63					A	57182522	G	A	57182522	3	1	117	1	0	0	0	0	1	0	0	0	8215	971	34	2	2872	2	KIAA1211	4	57182522	Missense_Mutation	SNP	G	TCGA-DJ-A3UK-01A-11D-A22D-08	40282455	57182522	133971754	5	2472											
NAA11	84779	broad.mit.edu	37	chr4	80246702	80246702	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccggttactcttcctgacGtgcagagacacgtatttggc	12	11	1	2			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr4:80246702G>A	ENST00000286794.4	-	1	502	c.330C>T	c.(328-330)caC>caT	p.H110H	NAA11_ENST00000513733.1_5'Flank	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	110	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				N-terminal protein amino acid acetylation (GO:0006474)	NatA complex (GO:0031415)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						TCTTCCTGACGTGCAGAGACA	0.522																																						ENST00000286794.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						c.(328-330)caC>caT		N(alpha)-acetyltransferase 11, NatA catalytic subunit							58	62	61					4																	80246702		2093	4241	6334	SO:0001819	synonymous_variant	84779					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	g.chr4:80246702G>A		CCDS47084.1	4q21.23	2010-05-07	2010-01-14	2010-01-14		ENSG00000156269	2.3.1.88	"N(alpha)-acetyltransferase subunits"	28125	protein-coding gene	gene with protein product			"ARD1 homolog B (S. cerevisiae)"	ARD1B		16638120, 19660095	Standard	NM_032693		Approved	ARD2, hARD2	uc003hlt.4	Q9BSU3		ENST00000286794.4:c.330C>T	4.37:g.80246702G>A							p.H110H	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN			1	502	-			110			N-acetyltransferase.		Q66K19|Q6P479	Silent	SNP	ENST00000286794.4	37	c.330C>T	CCDS47084.1																																																																																				0.522	NAA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362922.1			17	46	0	0	0	1	0	17	46					A	80246702	G	A	80246702	2	1	117	1	0	0	0	0	0	0	0	1	10117	1136	40	1		1	NAA11	4	80246702	Silent	SNP	G	TCGA-DJ-A3UK-01A-11D-A22D-08	23064180	80246702	110907574	6	2473											
BMP6	654	broad.mit.edu	37	chr6	7861778	7861778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccactagcaatctgtggGttgtgactccacagcataac	10	12	1	1			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr6:7861778G>A	ENST00000283147.6	+	3	1111	c.952G>A	c.(952-954)Gtt>Att	p.V318I		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	318					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CAATCTGTGGGTTGTGACTCC	0.502																																						ENST00000283147.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23						c.(952-954)Gtt>Att		bone morphogenetic protein 6							140	134	136					6																	7861778		2203	4300	6503	SO:0001583	missense	654				BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	g.chr6:7861778G>A	AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"Bone morphogenetic proteins", "Endogenous ligands"	1073	protein-coding gene	gene with protein product		112266	"vegetal related growth factor (TGFB-related)"	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.952G>A	6.37:g.7861778G>A	ENSP00000283147:p.Val318Ile						p.V318I	NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN			3	1111	+	Ovarian(93;0.0721)		318					Q5TCP3	Missense_Mutation	SNP	ENST00000283147.6	37	c.952G>A	CCDS4503.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778252	0.90195	.	.	ENSG00000153162	ENST00000537240;ENST00000283147;ENST00000540959	T	0.66280	-0.2	5.01	3.15	0.36227	Transforming growth factor-beta, N-terminal (1);	0.329418	0.31427	N	0.007679	T	0.57227	0.2039	L	0.44542	1.39	0.54753	D	0.999987	D	0.55385	0.971	P	0.57244	0.816	T	0.59658	-0.7413	10	0.45353	T	0.12	.	15.0191	0.71613	0.0:0.2699:0.7301:0.0	.	318	P22004	BMP6_HUMAN	I	240;318;281	ENSP00000283147:V318I	ENSP00000283147:V318I	V	+	1	0	BMP6	7806777	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	3.052000	0.49893	0.636000	0.30508	0.655000	0.94253	GTT		0.502	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1	NM_001718		4	198	0	0	0	1	0	4	198					A	7861778	G	A	7861778	3	1	117	1	0	0	0	0	1	0	0	0	1464	1261	44	2	962	2	BMP6	6	7861778	Missense_Mutation	SNP	G	TCGA-DJ-A3UK-01A-11D-A22D-08		7861778	163253289	7	2474											
PHACTR1	221692	broad.mit.edu	37	chr6	13283734	13283734	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactacgtggaggtggctgaCgctcaggactatgaccgcag	15	10	1	2	rs376680831		TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr6:13283734C>T	ENST00000379335.3	+	3	387	c.282C>T	c.(280-282)gaC>gaT	p.D94D	PHACTR1_ENST00000457702.2_Silent_p.D385D|RP1-257A7.4_ENST00000606150.1_RNA|PHACTR1_ENST00000332995.7_Silent_p.D530D|PHACTR1_ENST00000379329.1_Silent_p.D94D|RP1-257A7.4_ENST00000399446.2_RNA			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	530					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			AGGTGGCTGACGCTCAGGACT	0.597																																						ENST00000332995.7																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(1588-1590)gaC>gaT		phosphatase and actin regulator 1		C	,,	0,4168		0,0,2084	105	119	114		1590,,1590	-2.4	0.9	6		114	1,8415		0,1,4207	no	coding-synonymous,intron,coding-synonymous	PHACTR1,LOC100130357	NM_001242648.1,NM_001242698.1,NM_030948.2	,,	0,1,6291	TT,TC,CC		0.0119,0.0,0.0079	,,	530/581,,530/581	13283734	1,12583	2084	4208	6292	SO:0001819	synonymous_variant	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13283734C>T	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"Phosphatase and actin regulators"	20990	protein-coding gene	gene with protein product		608723	"RPEL repeat containing 1"	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379335.3:c.282C>T	6.37:g.13283734C>T						RP1-257A7.4_ENST00000606150.1_RNA|PHACTR1_ENST00000379335.3_Silent_p.D94D|PHACTR1_ENST00000379329.1_Silent_p.D94D|PHACTR1_ENST00000457702.2_Silent_p.D385D	p.D530D			Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		11	1590	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	530					A8K1V2|Q3MJ93|Q5JSJ2	Silent	SNP	ENST00000379335.3	37	c.1590C>T		.	.	.	.	.	.	.	.	.	.	C	10.70	1.423086	0.25639	0.0	1.19E-4	ENSG00000112137	ENST00000415087	.	.	.	5.9	-2.39	0.06602	.	.	.	.	.	T	0.49423	0.1556	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56050	-0.8043	4	.	.	.	-20.7442	12.7679	0.57403	0.0:0.5098:0.0:0.4902	.	.	.	.	M	365	.	.	T	+	2	0	PHACTR1	13391713	0.000000	0.05858	0.857000	0.33713	0.994000	0.84299	-1.970000	0.01504	-0.426000	0.07360	0.655000	0.94253	ACG		0.597	PHACTR1-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000039878.1	XM_166420		9	210	0	0	0	1	0	9	210					T	13283734	C	T	13283734	2	4	117	1	0	0	0	0	0	0	0	1	11809	535	19	1		1	PHACTR1	6	13283734	Silent	SNP	C	TCGA-DJ-A3UK-01A-11D-A22D-08	5421956	13283734	157831333	8	2475											
LAMA2	3908	broad.mit.edu	37	chr6	129649469	129649469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgttctcaaccaggtggccGcacccctggaccaaccctgg	11	17	1	0			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr6:129649469G>A	ENST00000421865.2	+	29	4272	c.4223G>A	c.(4222-4224)cGc>cAc	p.R1408H		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1408	Laminin EGF-like 14; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.R1408H(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCAGGTGGCCGCACCCCTGGA	0.502																																						ENST00000421865.2																			1	Substitution - Missense(1)	p.R1408H(1)	endometrium(1)	NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(4222-4224)cGc>cAc		laminin, alpha 2							128	112	117					6																	129649469		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129649469G>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4223G>A	6.37:g.129649469G>A	ENSP00000400365:p.Arg1408His						p.R1408H	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	29	4272	+			1408			Laminin EGF-like 14; second part.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.4223G>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.572298	0.28092	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.34275	1.37	5.15	-1.18	0.09617	.	0.687206	0.14601	N	0.309637	T	0.07773	0.0195	N	0.19112	0.55	0.09310	N	1	B;B	0.19073	0.026;0.033	B;B	0.19391	0.007;0.025	T	0.32561	-0.9902	10	0.54805	T	0.06	.	5.9866	0.19438	0.2666:0.2318:0.5016:0.0	.	1408;1408	A6NF00;P24043	.;LAMA2_HUMAN	H	1408	ENSP00000400365:R1408H	ENSP00000346769:R1408H	R	+	2	0	LAMA2	129691162	0.000000	0.05858	0.054000	0.19295	0.465000	0.32709	-0.324000	0.07986	-0.063000	0.13065	0.467000	0.42956	CGC		0.502	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			5	131	0	0	0	1	0	5	131					A	129649469	G	A	129649469	3	1	117	1	0	0	0	0	1	0	0	0	8606	1087	38	1	4337	1	LAMA2	6	129649469	Missense_Mutation	SNP	G	TCGA-DJ-A3UK-01A-11D-A22D-08	116365735	129649469	41465598	9	2476											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		41	49	0	0	0	1	0	41	49					T	140453136	A	T	140453136	3	4	117	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3UK-01A-11D-A22D-08		140453136	18685527	10	2477											
ADAMDEC1	27299	broad.mit.edu	37	chr8	24254877	24254877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctttacatctaaccaggagGaacaagacccagctaaccac	6	13	2	1			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr8:24254877G>A	ENST00000256412.4	+	6	755	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	ADAMDEC1_ENST00000538205.1_Missense_Mutation_p.E100K|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.E100K	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	179					immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TAACCAGGAGGAACAAGACCC	0.458																																					Ovarian(147;687 1849 3699 25981 31337)	ENST00000538205.1																			0				NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9						c.(298-300)Gaa>Aaa		ADAM-like, decysin 1							221	213	216					8																	24254877		2203	4300	6503	SO:0001583	missense	27299				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:24254877G>A	Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.535G>A	8.37:g.24254877G>A	ENSP00000256412:p.Glu179Lys					RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.E179K|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.E100K|RP11-624C23.1_ENST00000523578.1_RNA	p.E100K	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)	7	845	+		Prostate(55;0.0181)	179					B7ZAK5	Missense_Mutation	SNP	ENST00000256412.4	37	c.298G>A	CCDS6044.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.893755	0.33442	.	.	ENSG00000134028	ENST00000256412;ENST00000538205;ENST00000522298	T;T;T	0.02656	4.21;4.22;4.22	5.53	4.65	0.58169	.	0.312065	0.27595	N	0.018665	T	0.02012	0.0063	N	0.08118	0	0.09310	N	1	B	0.33379	0.41	B	0.37267	0.245	T	0.50162	-0.8860	10	0.11182	T	0.66	-14.8166	12.4375	0.55608	0.0:0.1684:0.8316:0.0	.	179	O15204	ADEC1_HUMAN	K	179;100;100	ENSP00000256412:E179K;ENSP00000442592:E100K;ENSP00000428993:E100K	ENSP00000256412:E179K	E	+	1	0	ADAMDEC1	24310822	0.761000	0.28439	0.016000	0.15963	0.033000	0.12548	3.368000	0.52357	1.325000	0.45301	0.557000	0.71058	GAA		0.458	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	NM_014479		6	286	0	0	0	1	0	6	286					A	24254877	G	A	24254877	3	1	117	1	0	0	0	0	1	0	0	0	254	1175	41	2	557	2	ADAMDEC1	8	24254877	Missense_Mutation	SNP	G	TCGA-DJ-A3UK-01A-11D-A22D-08		24254877	122109145	11	2478											
FXYD4	53828	broad.mit.edu	37	chr10	43869919	43869919	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctctgctcctcccacacaggCctgactgccttggaagccaa	8	17	1	1			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr10:43869919C>G	ENST00000476166.1	+	4	373	c.39C>G	c.(37-39)ggC>ggG	p.G13G	FXYD4_ENST00000480834.1_3'UTR	NM_173160.2	NP_775183.1	P59646	FXYD4_HUMAN	FXYD domain containing ion transport regulator 4	13					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)			NS(1)|large_intestine(1)|lung(3)	5						CCCACACAGGCCTGACTGCCT	0.587																																					GBM(173;880 2047 13035 42390 49655)	ENST00000476166.1																			0				NS(1)|large_intestine(1)|lung(3)	5						c.e4-1		FXYD domain containing ion transport regulator 4							141	136	138					10																	43869919		2203	4300	6503	SO:0001630	splice_region_variant	53828					integral to membrane		g.chr10:43869919C>G		CCDS7203.1	10q11.21	2008-02-01	2002-01-14		ENSG00000150201	ENSG00000150201			4028	protein-coding gene	gene with protein product			"FXYD domain-containing ion transport regulator 4"			10950925, 12763854	Standard	NM_001184963		Approved	CHIF	uc001jaq.1	P59646	OTTHUMG00000018027	ENST00000476166.1:c.38-1C>G	10.37:g.43869919C>G						FXYD4_ENST00000480834.1_3'UTR	p.G13_splice	NM_173160.2	NP_775183.1	P59646	FXYD4_HUMAN			4	373	+			13					Q6UWZ1|Q7Z4M5	Splice_Site	SNP	ENST00000476166.1	37	c.37_splice	CCDS7203.1																																																																																				0.587	FXYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047698.2	NM_173160	Silent	95	164	0	0	0	1	0	95	164					G	43869919	C	G	43869919	5	3	117	1	0	0	0	0	0	0	1	0	6120	753	26	4	45	4	FXYD4	10	43869919	Splice_Site	SNP	C	TCGA-DJ-A3UK-01A-11D-A22D-08		43869919	91664828	12	2479											
TLL2	7093	broad.mit.edu	37	chr10	98188429	98188429	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaataaagctttcctcatcCgtcctttctatgaaggtcac	5	12	3	1	rs141217387		TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr10:98188429C>A	ENST00000357947.3	-	5	822	c.597G>T	c.(595-597)acG>acT	p.T199T	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	199	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TTTCCTCATCCGTCCTTTCTA	0.498																																						ENST00000357947.3																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(595-597)acG>acT		tolloid-like 2							138	114	122					10																	98188429		2203	4300	6503	SO:0001819	synonymous_variant	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98188429C>A	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.597G>T	10.37:g.98188429C>A						TLL2_ENST00000469598.1_5'UTR	p.T199T	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	5	822	-		Colorectal(252;0.0846)	199			Metalloprotease (By similarity).		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Silent	SNP	ENST00000357947.3	37	c.597G>T	CCDS7449.1																																																																																				0.498	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			3	86	1	0	1	1	1	3	86					A	98188429	C	A	98188429	2	1	117	1	0	0	0	0	0	0	0	1	15943	639	23	4		4	TLL2	10	98188429	Silent	SNP	C	TCGA-DJ-A3UK-01A-11D-A22D-08	54318510	98188429	37346318	13	2480											
B3GNT6	192134	broad.mit.edu	37	chr11	76751195	76751195	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctcaacctcacgctcaaGcacctgcacttgctcgactg	6	17	3	0			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr11:76751195G>A	ENST00000533140.1	+	2	738	c.600G>A	c.(598-600)aaG>aaA	p.K200K	B3GNT6_ENST00000354301.5_Silent_p.K200K|B3GNT6_ENST00000421061.1_Silent_p.K111K			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						TCACGCTCAAGCACCTGCACT	0.697																																						ENST00000533140.1																			0				central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						c.(598-600)aaG>aaA		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)							44	48	46					11																	76751195		2195	4284	6479	SO:0001819	synonymous_variant	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.chr11:76751195G>A	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.600G>A	11.37:g.76751195G>A						B3GNT6_ENST00000421061.1_Silent_p.K111K|B3GNT6_ENST00000354301.5_Silent_p.K200K	p.K200K			Q6ZMB0	B3GN6_HUMAN			2	738	+			200					Q4TTN0	Silent	SNP	ENST00000533140.1	37	c.600G>A	CCDS53681.1																																																																																				0.697	B3GNT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382740.2	NM_138706		78	88	0	0	0	1	0	78	88					A	76751195	G	A	76751195	2	1	117	1	0	0	0	0	0	0	0	1	1261	962	34	2		2	B3GNT6	11	76751195	Silent	SNP	G	TCGA-DJ-A3UK-01A-11D-A22D-08		76751195	58255321	14	2481											
GPR81	27198	broad.mit.edu	37	chr12	123214145	123214145	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggatcgcaggcactcgaggGcaccgtccagaggaaataga	15	10	0	2			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr12:123214145G>A	ENST00000436083.2	-	1	1245	c.742C>T	c.(742-744)Ccc>Tcc	p.P248S	HCAR1_ENST00000356987.2_Missense_Mutation_p.P248S|HCAR1_ENST00000432564.1_Missense_Mutation_p.P248S			Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	248					response to estradiol (GO:0032355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						GCACTCGAGGGCACCGTCCAG	0.537																																						ENST00000432564.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						c.(742-744)Ccc>Tcc		hydroxycarboxylic acid receptor 1							71	67	69					12																	123214145		2203	4300	6503	SO:0001583	missense	27198				response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:123214145G>A	AF411110	CCDS9236.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000196917	ENSG00000196917		"GPCR / Class A : Hydroxy-carboxylic acid receptors"	4532	protein-coding gene	gene with protein product	"lactate receptor 1"	606923	"G protein-coupled receptor 104", "G protein-coupled receptor 81"	GPR104, GPR81		11574155, 19047060, 18952058, 21454438	Standard	NM_032554		Approved	HCA1, FKSG80, TA-GPCR, LACR1	uc001ucz.3	Q9BXC0		ENST00000436083.2:c.742C>T	12.37:g.123214145G>A	ENSP00000409980:p.Pro248Ser					HCAR1_ENST00000436083.2_Missense_Mutation_p.P248S|HCAR1_ENST00000356987.2_Missense_Mutation_p.P248S	p.P248S	NM_032554.3	NP_115943.1	Q9BXC0	HCAR1_HUMAN			1	984	-			248					B2R9X4|Q3Y5J3|Q4VBN1|Q6NXU5	Missense_Mutation	SNP	ENST00000436083.2	37	c.742C>T	CCDS9236.1	.	.	.	.	.	.	.	.	.	.	G	0.822	-0.748250	0.03065	.	.	ENSG00000196917	ENST00000356987;ENST00000432564;ENST00000436083	T;T;T	0.70749	-0.51;-0.51;-0.51	5.51	2.72	0.32119	GPCR, rhodopsin-like superfamily (1);	0.212673	0.33670	N	0.004667	T	0.52613	0.1745	L	0.42245	1.32	0.22342	N	0.999188	B	0.14012	0.009	B	0.14023	0.01	T	0.31503	-0.9941	10	0.08179	T	0.78	-9.2199	4.2561	0.10717	0.2541:0.0:0.5865:0.1594	.	248	Q9BXC0	HCAR1_HUMAN	S	248	ENSP00000349478:P248S;ENSP00000389255:P248S;ENSP00000409980:P248S	ENSP00000349478:P248S	P	-	1	0	HCAR1	121780098	0.346000	0.24844	0.942000	0.38095	0.150000	0.21749	0.011000	0.13264	0.301000	0.22738	-0.136000	0.14681	CCC		0.537	HCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401415.1			4	76	0	0	0	1	0	4	76					A	123214145	G	A	123214145	3	1	117	1	0	0	0	0	1	0	0	0	6711	1203	42	2	302	2	GPR81	12	123214145	Missense_Mutation	SNP	G	TCGA-DJ-A3UK-01A-11D-A22D-08		123214145	10637750	15	2482											
CNGB1	1258	broad.mit.edu	37	chr16	57983275	57983277	+	In_Frame_Del	DEL	TCC	TCC	-													actcagtcacctcctcctctTcctcctcctcctcctcttcc					rs141566950|rs528199212		TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr16:57983275_57983277delTCC	ENST00000251102.8	-	14	1161_1163	c.1101_1103delGGA	c.(1099-1104)gaggaa>gaa	p.367_368EE>E	CNGB1_ENST00000564448.1_In_Frame_Del_p.361_362EE>E|CNGB1_ENST00000564654.1_5'Flank	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	367	Poly-Glu.				cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						ctcctcctcttcctcctcctcct	0.586																																					Colon(156;1293 1853 16336 28962 38659)	ENST00000564448.1																			0				breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(1081-1086)gaa>ga		cyclic nucleotide gated channel beta 1				50,422,3678		24,0,2,33,356,1660						-4.3	0.1		dbSNP_134	89	253,4,7879		123,0,7,0,4,3934	no	codingComplex	CNGB1	NM_001297.4		147,0,9,33,360,5594	A1A1,A1A2,A1R,A2A2,A2R,RR		3.1588,11.3735,5.9336				303,426,11557				SO:0001651	inframe_deletion	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57983275_57983277delTCC	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2151	protein-coding gene	gene with protein product	"glutamic acid-rich protein"	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.1101_1103delGGA	16.37:g.57983284_57983286delTCC	ENSP00000251102:p.Glu371del					CNGB1_ENST00000251102.8_In_Frame_Del_p.EE369del	p.EE363del			Q14028	CNGB1_HUMAN			14	1143_1145	-			369			Poly-Glu.		H3BN09|O43636|Q13059|Q14029|Q9UMG2	In_Frame_Del	DEL	ENST00000251102.8	37	c.1083_1085delGGA	CCDS42169.1																																																																																				0.586	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		7	92						7	92	---	---	---	---	-	57983277	TCC	-	57983275	7	5	117	1	0	1	0	1	0	0	0	0	3600	1783	62	0	2732	0	CNGB1	16	57983275	In_Frame_Del	DEL	TCC	TCGA-DJ-A3UK-01A-11D-A22D-08		57983275	32371478	16	2483											
CHRNE	1145	broad.mit.edu	37	chr17	4805305	4805305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacgctgcggtagatggccGgaggcagccacgtcacggag	17	11	1	2	rs121909512		TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr17:4805305G>A	ENST00000293780.4	-	5	432	c.422C>T	c.(421-423)cCg>cTg	p.P141L	C17orf107_ENST00000381365.3_3'UTR|CHRNE_ENST00000575637.1_5'UTR	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	141			P -> L (in FCCMS; marked decrease in rate of AChR channel opening; reduction in frequency of open channel state and resistance to desensitization by ACh). {ECO:0000269|PubMed:8755487}.		cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	GTAGATGGCCGGAGGCAGCCA	0.617																																						ENST00000293780.4																			0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12	GRCh37	CM960299	CHRNE	M	rs121909512	c.(421-423)cCg>cTg		cholinergic receptor, nicotinic, epsilon (muscle)							56	52	54					17																	4805305		2203	4300	6503	SO:0001583	missense	1145				muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr17:4805305G>A	X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1966	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, epsilon (muscle)"	100725	"cholinergic receptor, nicotinic, epsilon"			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778	ENST00000293780.4:c.422C>T	17.37:g.4805305G>A	ENSP00000293780:p.Pro141Leu					CHRNE_ENST00000575637.1_5'UTR|C17orf107_ENST00000381365.3_3'UTR	p.P141L	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN			5	432	-			141		P -> L (in FCCMS; marked decrease in rate of AChR channel opening; reduction in frequency of open channel state and resistance to desensitization by ACh).			D3DTK6	Missense_Mutation	SNP	ENST00000293780.4	37	c.422C>T	CCDS11058.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.906638	0.92107	.	.	ENSG00000108556	ENST00000293780	D	0.81821	-1.54	4.78	4.78	0.61160	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.92743	0.7693	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94760	0.7935	10	0.87932	D	0	.	15.3477	0.74355	0.0:0.0:1.0:0.0	.	141	Q04844	ACHE_HUMAN	L	141	ENSP00000293780:P141L	ENSP00000293780:P141L	P	-	2	0	CHRNE	4746084	1.000000	0.71417	0.979000	0.43373	0.678000	0.39670	9.585000	0.98223	2.500000	0.84329	0.561000	0.74099	CCG		0.617	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207560.3			3	102	0	0	0	1	0	3	102					A	4805305	G	A	4805305	3	1	117	1	0	0	0	0	1	0	0	0	3395	1116	39	1	1091	1	CHRNE	17	4805305	Missense_Mutation	SNP	G	TCGA-DJ-A3UK-01A-11D-A22D-08		4805305	76389905	17	2484											
SHMT1	6470	broad.mit.edu	37	chr17	18232139	18232139	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccggagagcctgcacggcCgcctggtacttatcccctgc	11	17	0	1			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr17:18232139C>T	ENST00000316694.3	-	12	1511	c.1377G>A	c.(1375-1377)gcG>gcA	p.A459A	SHMT1_ENST00000539052.1_Silent_p.A321A|SHMT1_ENST00000352886.6_Silent_p.A379A|SHMT1_ENST00000354098.3_Silent_p.A420A|RP1-178F10.3_ENST00000577764.1_lincRNA	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	459					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|folic acid metabolic process (GO:0046655)|glycine biosynthetic process from serine (GO:0019264)|L-serine catabolic process (GO:0006565)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase biosynthetic process (GO:0009113)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	amino acid binding (GO:0016597)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Tetrahydrofolic acid(DB00116)	CCTGCACGGCCGCCTGGTACT	0.612																																						ENST00000316694.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13						c.(1375-1377)gcG>gcA		serine hydroxymethyltransferase 1 (soluble)	Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						35	34	34					17																	18232139		2203	4300	6503	SO:0001819	synonymous_variant	6470				carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr17:18232139C>T		CCDS11196.1, CCDS11197.1, CCDS62112.1	17p11.2	2010-04-23			ENSG00000176974	ENSG00000176974	2.1.2.1		10850	protein-coding gene	gene with protein product	"cytoplasmic serine hydroxymethyltransferase", "14 kDa protein"	182144				8505317	Standard	NM_004169		Approved	CSHMT, SHMT, MGC15229, MGC24556	uc002gta.3	P34896	OTTHUMG00000059094	ENST00000316694.3:c.1377G>A	17.37:g.18232139C>T						SHMT1_ENST00000354098.3_Silent_p.A420A|SHMT1_ENST00000352886.6_Silent_p.A379A|SHMT1_ENST00000539052.1_Silent_p.A321A	p.A459A	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN			12	1511	-			459					B4DPM9|D3DXD0|Q96HY0|Q9UMD1|Q9UMD2	Silent	SNP	ENST00000316694.3	37	c.1377G>A	CCDS11196.1																																																																																				0.612	SHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130831.2	NM_004169		3	43	0	0	0	1	0	3	43					T	18232139	C	T	18232139	2	4	117	1	0	0	0	0	0	0	0	1	14285	639	23	1		1	SHMT1	17	18232139	Silent	SNP	C	TCGA-DJ-A3UK-01A-11D-A22D-08	13426834	18232139	62963071	18	2485											
GAS2L2	246176	broad.mit.edu	37	chr17	34074068	34074068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatctctctggaggcccccGtccctgctccccgttccctg	8	21	2	0	rs199814494		TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr17:34074068G>A	ENST00000254466.6	-	5	1079	c.1052C>T	c.(1051-1053)aCg>aTg	p.T351M	GAS2L2_ENST00000587565.1_Missense_Mutation_p.T335M	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	351					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)		GGAGGCCCCCGTCCCTGCTCC	0.612																																						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.(1051-1053)aCg>aTg		growth arrest-specific 2 like 2							36	40	39					17																	34074068		2202	4300	6502	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34074068G>A	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.1052C>T	17.37:g.34074068G>A	ENSP00000254466:p.Thr351Met					GAS2L2_ENST00000587565.1_Missense_Mutation_p.T335M	p.T351M	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	5	1079	-		Ovarian(249;0.17)	351					Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.1052C>T	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	G	8.108	0.778080	0.16120	.	.	ENSG00000132139	ENST00000254466	T	0.18502	2.21	4.8	2.69	0.31865	.	1.269660	0.05621	N	0.579895	T	0.13970	0.0338	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.29274	-1.0017	10	0.42905	T	0.14	0.788	6.6506	0.22959	0.3146:0.0:0.6854:0.0	.	351	Q8NHY3	GA2L2_HUMAN	M	351	ENSP00000254466:T351M	ENSP00000254466:T351M	T	-	2	0	GAS2L2	31098181	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.405000	0.21015	0.667000	0.31107	-0.221000	0.12465	ACG		0.612	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		10	96	0	0	0	1	0	10	96					A	34074068	G	A	34074068	3	1	117	1	0	0	0	0	1	0	0	0	6247	1145	40	1	1598	1	GAS2L2	17	34074068	Missense_Mutation	SNP	G	TCGA-DJ-A3UK-01A-11D-A22D-08	15841929	34074068	47121142	19	2486											
ITGA3	3675	broad.mit.edu	37	chr17	48166542	48166542	+	3'UTR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgcagtgcggatccgggaGgaggagcgctacccacctcc	14	15	0	0			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr17:48166542G>A	ENST00000320031.8	+	0	3586				ITGA3_ENST00000007722.7_Silent_p.E1038E	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)						blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						GGATCCGGGAGGAGGAGCGCT	0.562																																						ENST00000007722.7																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						c.(3112-3114)gaG>gaA		integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)							178	168	171					17																	48166542		2203	4300	6503	SO:0001624	3_prime_UTR_variant	3675				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	g.chr17:48166542G>A	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"CD molecules", "Integrins"	6139	protein-coding gene	gene with protein product		605025	"antigen identified by monoclonal antibody J143"	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.*100G>A	17.37:g.48166542G>A						ITGA3_ENST00000320031.8_3'UTR	p.E1038E			P26006	ITA3_HUMAN			25	3114	+			1035					A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Silent	SNP	ENST00000320031.8	37	c.3114G>A	CCDS11558.1																																																																																				0.562	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		5	302	0	0	0	1	0	5	302					A	48166542	G	A	48166542	1	1	117	0	1	0	0	0	0	0	0	0	7877	991	35	2		2	ITGA3	17	48166542	3'UTR	SNP	G	TCGA-DJ-A3UK-01A-11D-A22D-08	14092474	48166542	33028668	20	2487											
SCPEP1	59342	broad.mit.edu	37	chr17	55058499	55058499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtatgggattatgtgacgGtccgcaaggatgcctacatg	13	7	0	1			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr17:55058499G>A	ENST00000262288.3	+	2	188	c.133G>A	c.(133-135)Gtc>Atc	p.V45I	SCPEP1_ENST00000571898.1_3'UTR|RP5-1107A17.4_ENST00000572877.1_RNA	NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	45					negative regulation of blood pressure (GO:0045776)|positive regulation of vasodilation (GO:0045909)|retinoic acid metabolic process (GO:0042573)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					TTATGTGACGGTCCGCAAGGA	0.493																																						ENST00000262288.3																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14						c.(133-135)Gtc>Atc		serine carboxypeptidase 1							144	117	126					17																	55058499		2203	4300	6503	SO:0001583	missense	59342				proteolysis	extracellular region	serine-type carboxypeptidase activity	g.chr17:55058499G>A	AF282618	CCDS11593.1	17q22	2012-09-20			ENSG00000121064	ENSG00000121064			29507	protein-coding gene	gene with protein product	"retinoid inducible serine carboxypeptidase"					11447226, 12975309	Standard	NM_021626		Approved	RISC	uc002iuv.4	Q9HB40	OTTHUMG00000178129	ENST00000262288.3:c.133G>A	17.37:g.55058499G>A	ENSP00000262288:p.Val45Ile					SCPEP1_ENST00000571898.1_3'UTR	p.V45I	NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN			2	188	+	Breast(9;2.86e-08)		45					Q96A94|Q9H3F0	Missense_Mutation	SNP	ENST00000262288.3	37	c.133G>A	CCDS11593.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.247593	0.59103	.	.	ENSG00000121064	ENST00000262288	T	0.54479	0.57	5.84	4.87	0.63330	.	0.057623	0.64402	N	0.000001	T	0.70124	0.3188	M	0.80422	2.495	0.53688	D	0.999978	D	0.64830	0.994	P	0.62298	0.9	T	0.73642	-0.3918	10	0.52906	T	0.07	-19.048	12.9923	0.58627	0.0741:0.0:0.9259:0.0	.	45	Q9HB40	RISC_HUMAN	I	45	ENSP00000262288:V45I	ENSP00000262288:V45I	V	+	1	0	SCPEP1	52413498	1.000000	0.71417	0.719000	0.30619	0.032000	0.12392	5.084000	0.64462	1.468000	0.48064	0.655000	0.94253	GTC		0.493	SCPEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440622.1	NM_021626		3	67	0	0	0	1	0	3	67					A	55058499	G	A	55058499	3	1	117	1	0	0	0	0	1	0	0	0	13935	1261	44	2	139	2	SCPEP1	17	55058499	Missense_Mutation	SNP	G	TCGA-DJ-A3UK-01A-11D-A22D-08	6891957	55058499	26136711	21	2488											
CANT1	124583	broad.mit.edu	37	chr17	76993313	76993313	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgacagggtcaggtagcccTttttcaggtaactgaaccag	11	10	2	2			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr17:76993313T>C	ENST00000302345.2	-	2	886	c.392A>G	c.(391-393)aAg>aGg	p.K131R	CANT1_ENST00000591732.1_5'Flank|CANT1_ENST00000591773.1_Missense_Mutation_p.K131R|CANT1_ENST00000392446.5_Missense_Mutation_p.K131R	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	131					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|proteoglycan biosynthetic process (GO:0030166)|signal transduction (GO:0007165)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|signal transducer activity (GO:0004871)|uridine-diphosphatase activity (GO:0045134)		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CAGGTAGCCCTTTTTCAGGTA	0.577			T	ETV4	prostate																																	ENST00000302345.2				Dom	yes		17	17q25	124583	T	calcium activated nucleotidase 1			E	ETV4		prostate	CANT1/ETV4(3)	0				cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16						c.(391-393)aAg>aGg		calcium activated nucleotidase 1							184	181	182					17																	76993313		2203	4300	6503	SO:0001583	missense	124583				positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity	g.chr17:76993313T>C	AJ312208	CCDS11760.1	17q25.3	2008-02-05	2004-10-12	2004-10-15		ENSG00000171302			19721	protein-coding gene	gene with protein product	"Soluble Ca-Activated Nucleotidase, isozyme 1"	613165				12167635	Standard	NM_138793		Approved	SHAPY, SCAN-1	uc002jwk.3	Q8WVQ1		ENST00000302345.2:c.392A>G	17.37:g.76993313T>C	ENSP00000307674:p.Lys131Arg					CANT1_ENST00000591773.1_Missense_Mutation_p.K131R|CANT1_ENST00000392446.5_Missense_Mutation_p.K131R	p.K131R	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		2	886	-			131					B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Missense_Mutation	SNP	ENST00000302345.2	37	c.392A>G	CCDS11760.1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.501139	0.26861	.	.	ENSG00000171302	ENST00000302345;ENST00000392446;ENST00000537282;ENST00000339300	D;D	0.85773	-2.03;-2.03	5.27	4.19	0.49359	.	0.099573	0.64402	D	0.000002	T	0.71065	0.3296	N	0.20357	0.565	0.50632	D	0.999887	B	0.06786	0.001	B	0.10450	0.005	T	0.59440	-0.7454	10	0.13108	T	0.6	-30.8089	8.2417	0.31665	0.0:0.1541:0.0:0.8459	.	131	Q8WVQ1	CANT1_HUMAN	R	131;131;131;80	ENSP00000307674:K131R;ENSP00000376241:K131R	ENSP00000307674:K131R	K	-	2	0	CANT1	74504908	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.832000	0.39151	0.845000	0.35118	0.459000	0.35465	AAG		0.577	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437723.2	NM_138793		5	458	0	0	0	1	0	5	458					C	76993313	T	C	76993313	3	2	117	1	0	0	0	0	1	0	0	0	2617	1609	56	3	825	3	CANT1	17	76993313	Missense_Mutation	SNP	T	TCGA-DJ-A3UK-01A-11D-A22D-08	21934814	76993313	4201897	22	2489											
TBC1D16	125058	broad.mit.edu	37	chr17	77926572	77926572	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggggtctgcaggaggccGttgctgtccgggaaccgcag	18	11	1	0			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr17:77926572G>A	ENST00000310924.2	-	4	940	c.825C>T	c.(823-825)aaC>aaT	p.N275N	TBC1D16_ENST00000570373.1_5'Flank|TBC1D16_ENST00000572862.1_5'Flank|TBC1D16_ENST00000340848.7_5'Flank|TBC1D16_ENST00000576768.1_5'Flank	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	275							Rab GTPase activator activity (GO:0005097)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GCAGGAGGCCGTTGCTGTCCG	0.682																																					Ovarian(14;397 562 4850 31922 49378)	ENST00000310924.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28						c.(823-825)aaC>aaT		TBC1 domain family, member 16							24	28	27					17																	77926572		2200	4298	6498	SO:0001819	synonymous_variant	125058					intracellular	Rab GTPase activator activity	g.chr17:77926572G>A	AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291			28356	protein-coding gene	gene with protein product						23019362	Standard	NM_019020		Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.825C>T	17.37:g.77926572G>A							p.N275N	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)		4	940	-	all_neural(118;0.167)		275					B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Silent	SNP	ENST00000310924.2	37	c.825C>T	CCDS11766.1																																																																																				0.682	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437145.1	NM_019020		4	102	0	0	0	1	0	4	102					A	77926572	G	A	77926572	2	1	117	1	0	0	0	0	0	0	0	1	15602	1136	40	1		1	TBC1D16	17	77926572	Silent	SNP	G	TCGA-DJ-A3UK-01A-11D-A22D-08	933259	77926572	3268638	23	2490											
MUC16	94025	broad.mit.edu	37	chr19	9090831	9090831	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttagtgtcatggaaaaAgggatagctgagttgggcat	14	4	1	1			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(982-984)ccT>ccC		mucin 16, cell surface associated							96	95	96					19																	9090831		2041	4195	6236	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090831A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.984T>C	19.37:g.9090831A>G							p.P328P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	1187	-			328			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.984T>C	CCDS54212.1																																																																																				0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	92	0	0	0	1	0	4	92					G	9090831	A	G	9090831	2	3	117	1	0	0	0	0	0	0	0	1	9973	59	3	3		3	MUC16	19	9090831	Silent	SNP	A	TCGA-DJ-A3UK-01A-11D-A22D-08		9090831	50038152	24	2491											
ANGPT4	51378	broad.mit.edu	37	chr20	853717	853717	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgtcgggagcgtggtaGtagacgccgttgaggtttga	17	5	0	3			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr20:853717G>A	ENST00000381922.3	-	9	1500	c.1398C>T	c.(1396-1398)taC>taT	p.Y466Y	ANGPT4_ENST00000546022.1_3'UTR	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	466	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GAGCGTGGTAGTAGACGCCGT	0.612																																					Pancreas(181;481 2077 3259 31286 49856)	ENST00000381922.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						c.(1396-1398)taC>taT		angiopoietin 4							104	92	96					20																	853717		2203	4300	6503	SO:0001819	synonymous_variant	51378				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr20:853717G>A	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"Fibrinogen C domain containing"	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.1398C>T	20.37:g.853717G>A						ANGPT4_ENST00000546022.1_3'UTR	p.Y466Y	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN			9	1500	-			466			Fibrinogen C-terminal.		B4E3J9|Q5TFF4|Q9H4Z4	Silent	SNP	ENST00000381922.3	37	c.1398C>T	CCDS13009.1																																																																																				0.612	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		3	66	0	0	0	1	0	3	66					A	853717	G	A	853717	2	1	117	1	0	0	0	0	0	0	0	1	612	1024	36	2		2	ANGPT4	20	853717	Silent	SNP	G	TCGA-DJ-A3UK-01A-11D-A22D-08		853717	62171803	25	2492											
TMEM90B	79953	broad.mit.edu	37	chr20	24524183	24524185	+	In_Frame_Del	DEL	GGA	GGA	-													cacaccctgtcctacgatgtGgaggaggaggaggagttcca							TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr20:24524183_24524185delGGA	ENST00000376862.3	+	2	1083_1085	c.450_452delGGA	c.(448-453)gtggag>gtg	p.E155del		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	155	Poly-Glu.				intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CCTACGATGTGGAGGAGGAGGAG	0.547																																						ENST00000376862.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						c.(448-453)gtg>gt		synapse differentiation inducing 1																																				SO:0001651	inframe_deletion	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24524183_24524185delGGA	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 5", "synapse differentiation induced gene 1"	614311	"chromosome 20 open reading frame 39", "transmembrane protein 90B"	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.450_452delGGA	20.37:g.24524192_24524194delGGA	ENSP00000366058:p.Glu155del						p.VE150del	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN			2	1083_1085	+			150					Q6IA30|Q9H514	In_Frame_Del	DEL	ENST00000376862.3	37	c.450_452delGGA	CCDS13164.1																																																																																				0.547	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		9	401						9	401	---	---	---	---	-	24524185	GGA	-	24524183	7	5	117	1	0	1	0	1	0	0	0	0	16216	1335	47	0	452	0	TMEM90B	20	24524183	In_Frame_Del	DEL	GGA	TCGA-DJ-A3UK-01A-11D-A22D-08	23670466	24524183	38501337	26	2493											
FOXP3	50943	broad.mit.edu	37	chrX	49113414	49113414	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcactgggatttgggaaGgtgcagagcagtgccggctc	18	8	0	1			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chrX:49113414G>A	ENST00000376207.4	-	5	697	c.510C>T	c.(508-510)acC>acT	p.T170T	FOXP3_ENST00000455775.2_Silent_p.T170T|FOXP3_ENST00000376197.1_Silent_p.T120T|FOXP3_ENST00000518685.1_Silent_p.T135T|FOXP3_ENST00000557224.1_Silent_p.T135T|FOXP3_ENST00000376199.2_Silent_p.T135T	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	170					B cell homeostasis (GO:0001782)|CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|chromatin remodeling (GO:0006338)|cytokine production (GO:0001816)|myeloid cell homeostasis (GO:0002262)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of immune response (GO:0050777)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of histone acetylation (GO:0035066)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peripheral T cell tolerance induction (GO:0002851)|positive regulation of T cell anergy (GO:0002669)|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 beta1 production (GO:0032914)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell activation (GO:0042110)|T cell homeostasis (GO:0043029)|T cell mediated immunity (GO:0002456)|T cell receptor signaling pathway (GO:0050852)|tolerance induction to self antigen (GO:0002513)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|NFAT protein binding (GO:0051525)|protein homodimerization activity (GO:0042803)|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 corepressor activity (GO:0003714)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					GATTTGGGAAGGTGCAGAGCA	0.652																																					GBM(182;1432 2112 16160 23073 31774)	ENST00000376207.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10						c.(508-510)acC>acT		forkhead box P3							62	42	49					X																	49113414		2203	4300	6503	SO:0001819	synonymous_variant	50943				B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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 corepressor activity|zinc ion binding	g.chrX:49113414G>A		CCDS14323.1, CCDS48109.1	Xp11.23	2014-09-17		2002-09-20	ENSG00000049768	ENSG00000049768		"Forkhead boxes"	6106	protein-coding gene	gene with protein product		300292	"immune dysregulation, polyendocrinopathy, enteropathy, X-linked"	IPEX		10677306, 11138001	Standard	NM_014009		Approved	JM2, XPID, AIID, PIDX, DIETER, SCURFIN	uc004dnf.4	Q9BZS1	OTTHUMG00000024135	ENST00000376207.4:c.510C>T	X.37:g.49113414G>A						FOXP3_ENST00000455775.2_Silent_p.T170T|FOXP3_ENST00000376199.2_Silent_p.T135T|FOXP3_ENST00000557224.1_Silent_p.T135T|FOXP3_ENST00000376197.1_Silent_p.T120T|FOXP3_ENST00000518685.1_Silent_p.T135T	p.T170T	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN			5	697	-	Ovarian(276;0.236)		170					A5HJT1|B7ZLG0|B9UN80|O60827|Q14DD8|Q4ZH51	Silent	SNP	ENST00000376207.4	37	c.510C>T	CCDS14323.1																																																																																				0.652	FOXP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060814.1	NM_014009		3	91	0	0	0	1	0	3	91					A	49113414	G	A	49113414	2	1	117	1	0	0	0	0	0	0	0	1	6028	987	35	2		2	FOXP3	23	49113414	Silent	SNP	G	TCGA-DJ-A3UK-01A-11D-A22D-08		49113414	106157146	27	2494											
DNAH5	1767	broad.mit.edu	37	chr5	13708384	13708384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctttgcattctgtctatttCctgcctgaggaaaatgttca	7	10	3	1			TCGA-DJ-A3UM-01A-11D-A22D-08	TCGA-DJ-A3UM-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	920558c4-24b2-41c0-8b2f-02d174d20e39	6ed58898-d4aa-4a0e-be59-25b1e8fbcca9	g.chr5:13708384C>T	ENST00000265104.4	-	76	13290	c.13186G>A	c.(13186-13188)Gaa>Aaa	p.E4396K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4396					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTGTCTATTTCCTGCCTGAGG	0.473									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(13186-13188)Gaa>Aaa		dynein, axonemal, heavy chain 5							155	139	144					5																	13708384		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13708384C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.13186G>A	5.37:g.13708384C>T	ENSP00000265104:p.Glu4396Lys						p.E4396K	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			76	13290	-	Lung NSC(4;0.00476)		4396					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.13186G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	36	5.618353	0.96649	.	.	ENSG00000039139	ENST00000265104	T	0.28895	1.59	5.2	5.2	0.72013	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.73202	0.3557	H	0.98646	4.29	0.80722	D	1	D	0.64830	0.994	D	0.75484	0.986	D	0.84747	0.0754	10	0.87932	D	0	.	19.1015	0.93276	0.0:1.0:0.0:0.0	.	4396	Q8TE73	DYH5_HUMAN	K	4396	ENSP00000265104:E4396K	ENSP00000265104:E4396K	E	-	1	0	DNAH5	13761384	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.731000	0.84895	2.581000	0.87130	0.655000	0.94253	GAA		0.473	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		4	141	0	0	0	1	0	4	141					T	13708384	C	T	13708384	3	4	118	1	0	0	0	0	1	0	0	0	4604	864	30	2	704	2	DNAH5	5	13708384	Missense_Mutation	SNP	C	TCGA-DJ-A3UM-01A-11D-A22D-08		13708384	167206876	1	2495											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3UM-01A-11D-A22D-08	TCGA-DJ-A3UM-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	920558c4-24b2-41c0-8b2f-02d174d20e39	6ed58898-d4aa-4a0e-be59-25b1e8fbcca9	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		29	53	0	0	0	1	0	29	53					T	140453136	A	T	140453136	3	4	118	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3UM-01A-11D-A22D-08		140453136	18685527	2	2496											
TMC8	147138	broad.mit.edu	37	chr17	76134248	76134248	+	Frame_Shift_Del	DEL	C	C	-													ctgaatagcgtcttcctcttCctcaccttctacatcaagaa							TCGA-DJ-A3UM-01A-11D-A22D-08	TCGA-DJ-A3UM-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	920558c4-24b2-41c0-8b2f-02d174d20e39	6ed58898-d4aa-4a0e-be59-25b1e8fbcca9	g.chr17:76134248delC	ENST00000318430.5	+	12	1886	c.1512delC	c.(1510-1512)ttcfs	p.F504fs	TMC8_ENST00000589691.1_Frame_Shift_Del_p.F281fs	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	504					ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			TCTTCCTCTTCCTCACCTTCT	0.617																																						ENST00000318430.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(1510-1512)ttfs		transmembrane channel-like 8							69	72	71					17																	76134248		2203	4300	6503	SO:0001589	frameshift_variant	147138					endoplasmic reticulum membrane|integral to membrane		g.chr17:76134248delC	AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895			20474	protein-coding gene	gene with protein product		605829	"epidermodysplasia verruciformis 2"	EVER2		12426567	Standard	NM_152468		Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.1512delC	17.37:g.76134248delC	ENSP00000325561:p.Phe504fs					TMC8_ENST00000589691.1_Frame_Shift_Del_p.F281fs	p.F504fs	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)		12	1886	+			504					Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Frame_Shift_Del	DEL	ENST00000318430.5	37	c.1512delC	CCDS32749.1																																																																																				0.617	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436900.3			12	119						12	119	---	---	---	---	-	76134248	C	-	76134248	7	5	118	1	0	1	0	1	0	0	0	0	15988	854	30	0	1554	0	TMC8	17	76134248	Frame_Shift_Del	DEL	C	TCGA-DJ-A3UM-01A-11D-A22D-08		76134248	5060962	3	2497											
NLRP9	338321	broad.mit.edu	37	chr19	56244558	56244558	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggctgggaaaaaatgtcttcGatcttctctgaagactccgg	11	9	3	2			TCGA-DJ-A3UM-01A-11D-A22D-08	TCGA-DJ-A3UM-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	920558c4-24b2-41c0-8b2f-02d174d20e39	6ed58898-d4aa-4a0e-be59-25b1e8fbcca9	g.chr19:56244558G>A	ENST00000332836.2	-	2	666	c.639C>T	c.(637-639)atC>atT	p.I213I		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	213	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AAATGTCTTCGATCTTCTCTG	0.443																																						ENST00000332836.2																			0				NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74						c.(637-639)atC>atT		NLR family, pyrin domain containing 9							33	32	32					19																	56244558		2203	4300	6503	SO:0001819	synonymous_variant	338321					cytoplasm	ATP binding	g.chr19:56244558G>A	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22941	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"	609663	"NACHT, leucine rich repeat and PYD containing 9"	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.639C>T	19.37:g.56244558G>A							p.I213I	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	2	666	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	213			NACHT.		B2RN12|Q86W27	Silent	SNP	ENST00000332836.2	37	c.639C>T	CCDS12934.1																																																																																				0.443	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		4	27	0	0	0	1	0	4	27					A	56244558	G	A	56244558	2	1	118	1	0	0	0	0	0	0	0	1	10484	1048	37	1		1	NLRP9	19	56244558	Silent	SNP	G	TCGA-DJ-A3UM-01A-11D-A22D-08		56244558	2884425	4	2498											
ZNF835	90485	broad.mit.edu	37	chr19	57175063	57175063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgggagctgggcaaaggcGtcccgaactgtctgcatgcg	16	11	1	0			TCGA-DJ-A3UM-01A-11D-A22D-08	TCGA-DJ-A3UM-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	920558c4-24b2-41c0-8b2f-02d174d20e39	6ed58898-d4aa-4a0e-be59-25b1e8fbcca9	g.chr19:57175063G>A	ENST00000537055.2	-	2	1735	c.1504C>T	c.(1504-1506)Cgc>Tgc	p.R502C		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	502					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGGCAAAGGCGTCCCGAACTG	0.647																																						ENST00000537055.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(1504-1506)Cgc>Tgc		zinc finger protein 835							113	124	120					19																	57175063		2200	4299	6499	SO:0001583	missense	90485							g.chr19:57175063G>A	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"Zinc fingers, C2H2-type"	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.1504C>T	19.37:g.57175063G>A	ENSP00000444747:p.Arg502Cys						p.R502C	NM_001005850.2	NP_001005850.2					2	1735	-								B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	c.1504C>T	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.604344	0.28534	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.07800	3.16	2.15	-4.29	0.03721	.	.	.	.	.	T	0.04952	0.0133	N	0.14661	0.345	0.09310	N	1	D	0.61080	0.989	P	0.47162	0.54	T	0.13522	-1.0506	9	0.87932	D	0	.	1.8729	0.03212	0.113:0.2833:0.1766:0.427	.	524	Q9Y2P0	ZN835_HUMAN	C	524;502	ENSP00000444747:R502C	ENSP00000341756:R524C	R	-	1	0	ZNF835	61866875	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.045000	0.03528	-1.410000	0.02035	-0.314000	0.08810	CGC		0.647	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		5	190	0	0	0	1	0	5	190					A	57175063	G	A	57175063	3	1	118	1	0	0	0	0	1	0	0	0	18183	1145	40	1	111	1	ZNF835	19	57175063	Missense_Mutation	SNP	G	TCGA-DJ-A3UM-01A-11D-A22D-08	930505	57175063	1953920	5	2499											
RLIM	51132	broad.mit.edu	37	chrX	73811995	73811995	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatttaagattctacgaatGggaattctgatggtactgac	10	5	2	3			TCGA-DJ-A3UM-01A-11D-A22D-08	TCGA-DJ-A3UM-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	920558c4-24b2-41c0-8b2f-02d174d20e39	6ed58898-d4aa-4a0e-be59-25b1e8fbcca9	g.chrX:73811995G>A	ENST00000332687.6	-	4	1373	c.1155C>T	c.(1153-1155)ccC>ccT	p.P385P	RLIM_ENST00000349225.2_Silent_p.P385P	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	385					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)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTCTACGAATGGGAATTCTGA	0.413																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1153-1155)ccC>ccT		ring finger protein, LIM domain interacting							109	98	102					X																	73811995		2203	4300	6503	SO:0001819	synonymous_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811995G>A	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"RING-type (C3HC4) zinc fingers"	13429	protein-coding gene	gene with protein product	"ring zinc finger protein NY-REN-43antigen", "LIM domain interacting ring finger protein"	300379	"ring finger protein 12"	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1155C>T	X.37:g.73811995G>A						RLIM_ENST00000349225.2_Silent_p.P385P	p.P385P	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1373	-			385					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.1155C>T	CCDS14427.1																																																																																				0.413	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		4	98	0	0	0	1	0	4	98					A	73811995	G	A	73811995	2	1	118	1	0	0	0	0	0	0	0	1	13390	1335	47	2		2	RLIM	23	73811995	Silent	SNP	G	TCGA-DJ-A3UM-01A-11D-A22D-08		73811995	81458565	6	2500											
FLNA	2316	broad.mit.edu	37	chrX	153590835	153590835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgccagccccccggggcGtgtacttgaccgtgaaggtg	15	13	0	2	rs201603843		TCGA-DJ-A3UM-01A-11D-A22D-08	TCGA-DJ-A3UM-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	920558c4-24b2-41c0-8b2f-02d174d20e39	6ed58898-d4aa-4a0e-be59-25b1e8fbcca9	g.chrX:153590835G>A	ENST00000369850.3	-	17	2752	c.2516C>T	c.(2515-2517)aCg>aTg	p.T839M	FLNA_ENST00000422373.1_Missense_Mutation_p.T839M|FLNA_ENST00000360319.4_Missense_Mutation_p.T839M|FLNA_ENST00000344736.4_Missense_Mutation_p.T839M	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	839					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCCCGGGGCGTGTACTTGAC	0.592																																						ENST00000422373.1																			0				breast(6)	6						c.(2515-2517)aCg>aTg		filamin A, alpha		G	MET/THR,MET/THR	1,3543		0,0,1,1487,569	88	98	95		2516,2516	4.9	1.0	X		95	5,6531		0,3,2,2363,1802	yes	missense,missense	FLNA	NM_001110556.1,NM_001456.3	81,81	0,3,3,3850,2371	AA,AG,A,GG,G		0.0765,0.0282,0.0595	probably-damaging,probably-damaging	839/2648,839/2640	153590835	6,10074	2057	4170	6227	SO:0001583	missense	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153590835G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.2516C>T	X.37:g.153590835G>A	ENSP00000358866:p.Thr839Met					FLNA_ENST00000344736.4_Missense_Mutation_p.T839M|FLNA_ENST00000369850.3_Missense_Mutation_p.T839M|FLNA_ENST00000360319.4_Missense_Mutation_p.T839M	p.T839M	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			17	2764	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		839					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.2516C>T	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907966	0.52333	2.82E-4	7.65E-4	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	4.91	4.91	0.64330	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.68952	0.3057	M	0.64676	1.99	0.80722	D	1	B;P	0.46784	0.194;0.884	B;P	0.45195	0.038;0.473	T	0.70813	-0.4770	10	0.38643	T	0.18	.	17.5374	0.87835	0.0:0.0:1.0:0.0	.	839;839	P21333-2;P21333	.;FLNA_HUMAN	M	839;812;839;839;839	ENSP00000353467:T839M;ENSP00000416926:T839M;ENSP00000358866:T839M;ENSP00000358863:T839M	ENSP00000358863:T839M	T	-	2	0	FLNA	153244029	1.000000	0.71417	0.992000	0.48379	0.972000	0.66771	6.605000	0.74155	2.156000	0.67533	0.529000	0.55759	ACG		0.592	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			19	149	0	0	0	1	0	19	149					A	153590835	G	A	153590835	3	1	118	1	0	0	0	0	1	0	0	0	5933	1145	40	1	5555	1	FLNA	23	153590835	Missense_Mutation	SNP	G	TCGA-DJ-A3UM-01A-11D-A22D-08	79778840	153590835	1679725	7	2501											
CSMD2	114784	broad.mit.edu	37	chr1	33985468	33985468	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgagggcgatgaaaggcacCaggatcgcggctgccactga	15	10	0	3			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr1:33985468C>A	ENST00000373381.4	-	69	10856	c.10680G>T	c.(10678-10680)ctG>ctT	p.L3560L		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3416						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGAAAGGCACCAGGATCGCGG	0.597																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(10678-10680)ctG>ctT		CUB and Sushi multiple domains 2							42	42	42					1																	33985468		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:33985468C>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.10680G>T	1.37:g.33985468C>A							p.L3560L	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			69	10856	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	3416					B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37	c.10680G>T																																																																																					0.597	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		26	38	1	0	6.32553e-13	1	6.77099e-13	26	38					A	33985468	C	A	33985468	2	1	119	1	0	0	0	0	0	0	0	1	3945	581	21	4		4	CSMD2	1	33985468	Silent	SNP	C	TCGA-DJ-A3UN-01A-11D-A22D-08		33985468	215265153	1	2502											
TNN	63923	broad.mit.edu	37	chr1	175046794	175046794	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgggggaggccagggaGgaacagaacatcatcttcag	15	10	3	1			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr1:175046794G>A	ENST00000239462.4	+	2	353	c.240G>A	c.(238-240)gaG>gaA	p.E80E		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	80					axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGGCCAGGGAGGAACAGAACA	0.607																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(238-240)gaG>gaA		tenascin N							63	52	56					1																	175046794		2203	4300	6503	SO:0001819	synonymous_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175046794G>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.240G>A	1.37:g.175046794G>A							p.E80E	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	2	353	+		Breast(1374;0.000962)	80					B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	c.240G>A	CCDS30943.1																																																																																				0.607	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		3	72	0	0	0	1	0	3	72					A	175046794	G	A	175046794	2	1	119	1	0	0	0	0	0	0	0	1	16320	991	35	2		2	TNN	1	175046794	Silent	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08	141061326	175046794	74203827	2	2503											
OBSCN	84033	broad.mit.edu	37	chr1	228467094	228467094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccaccatgaccgggcccGtgcacttcaccgttggcaag	11	16	1	1			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr1:228467094G>A	ENST00000422127.1	+	27	7389	c.7345G>A	c.(7345-7347)Gtg>Atg	p.V2449M	OBSCN_ENST00000570156.2_Missense_Mutation_p.V2878M|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.V2449M|OBSCN_ENST00000359599.6_Missense_Mutation_p.V1296M	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2449					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GACCGGGCCCGTGCACTTCAC	0.697																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(8632-8634)Gtg>Atg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							33	39	37					1																	228467094		2083	4201	6284	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228467094G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.7345G>A	1.37:g.228467094G>A	ENSP00000409493:p.Val2449Met					OBSCN_ENST00000359599.6_Missense_Mutation_p.V1296M|OBSCN_ENST00000422127.1_Missense_Mutation_p.V2449M|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.V2449M	p.V2878M	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			32	8706	+		Prostate(94;0.0405)	1878			Ig-like 28.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.8632G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084305	0.36758	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599;ENST00000366706	T;T;T	0.41400	1.0;1.0;1.0	4.47	4.47	0.54385	Immunoglobulin-like fold (1);	0.092821	0.42964	D	0.000625	T	0.56470	0.1987	M	0.69523	2.12	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.72338	0.902;0.977;0.968	T	0.58792	-0.7574	10	0.51188	T	0.08	.	5.303	0.15788	0.1396:0.2051:0.6553:0.0	.	2449;2449;2449	Q5VST9;Q5VST9-2;Q5VST9-3	OBSCN_HUMAN;.;.	M	2449;2449;1296;148	ENSP00000284548:V2449M;ENSP00000409493:V2449M;ENSP00000352613:V1296M	ENSP00000284548:V2449M	V	+	1	0	OBSCN	226533717	0.992000	0.36948	0.951000	0.38953	0.068000	0.16541	2.087000	0.41653	2.207000	0.71202	0.555000	0.69702	GTG		0.697	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		3	102	0	0	0	1	0	3	102					A	228467094	G	A	228467094	3	1	119	1	0	0	0	0	1	0	0	0	10812	1145	40	1	7447	1	OBSCN	1	228467094	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08	53420300	228467094	20783527	3	2504											
GFPT1	2673	broad.mit.edu	37	chr2	69597225	69597225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccaatctttatcattgcctCcatcaaatcccacacctaaa	1	16	3	0			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr2:69597225C>T	ENST00000357308.4	-	3	309	c.131G>A	c.(130-132)gGa>gAa	p.G44E	GFPT1_ENST00000494201.1_5'UTR|GFPT1_ENST00000361060.5_Missense_Mutation_p.G44E	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	44	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						ATCATTGCCTCCATCAAATCC	0.338																																						ENST00000357308.4																			0				endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						c.(130-132)gGa>gAa		glutamine--fructose-6-phosphate transaminase 1							165	152	156					2																	69597225		2203	4300	6503	SO:0001583	missense	2673				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr2:69597225C>T		CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"glutamine-fructose-6-phosphate transaminase 1"	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.131G>A	2.37:g.69597225C>T	ENSP00000349860:p.Gly44Glu					GFPT1_ENST00000361060.4_Missense_Mutation_p.G44E|GFPT1_ENST00000494201.1_5'UTR	p.G44E	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN			3	309	-			44			Glutamine amidotransferase type-2.		Q53QE6|Q9BXF8	Missense_Mutation	SNP	ENST00000357308.4	37	c.131G>A	CCDS58713.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.614414	0.66672	.	.	ENSG00000198380	ENST00000357308;ENST00000361060	T;T	0.76448	-1.02;-1.02	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.83271	0.5218	L	0.37897	1.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84812	0.0791	10	0.66056	D	0.02	-16.2681	16.9241	0.86170	0.0:1.0:0.0:0.0	.	44	Q06210-2	.	E	44	ENSP00000349860:G44E;ENSP00000354347:G44E	ENSP00000349860:G44E	G	-	2	0	GFPT1	69450729	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.161000	0.77505	2.586000	0.87340	0.455000	0.32223	GGA		0.338	GFPT1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				45	74	0	0	0	1	0	45	74					T	69597225	C	T	69597225	3	4	119	1	0	0	0	0	1	0	0	0	6345	855	30	2	1982	2	GFPT1	2	69597225	Missense_Mutation	SNP	C	TCGA-DJ-A3UN-01A-11D-A22D-08		69597225	173602148	4	2505											
WDR33	55339	broad.mit.edu	37	chr2	128466403	128466403	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agcgttctctgctggctgggGaatgaccgtcgtgaggggga	18	8	1	2			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr2:128466403G>C	ENST00000322313.4	-	21	3787	c.3629C>G	c.(3628-3630)tCc>tGc	p.S1210C		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1210					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GCTGGCTGGGGAATGACCGTC	0.557																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(3628-3630)tCc>tGc		WD repeat domain 33							67	66	66					2																	128466403		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128466403G>C		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"WD repeat domain containing"	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3629C>G	2.37:g.128466403G>C	ENSP00000325377:p.Ser1210Cys						p.S1210C	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	21	3787	-	Colorectal(110;0.1)		1210					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.3629C>G	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.646751	0.87958	.	.	ENSG00000136709	ENST00000322313	D	0.93488	-3.23	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.94295	0.8167	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.94937	0.8088	10	0.59425	D	0.04	-8.6502	19.5351	0.95247	0.0:0.0:1.0:0.0	.	1210	Q9C0J8	WDR33_HUMAN	C	1210	ENSP00000325377:S1210C	ENSP00000325377:S1210C	S	-	2	0	WDR33	128182873	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	9.320000	0.96346	2.640000	0.89533	0.655000	0.94253	TCC		0.557	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		28	56	0	0	0	1	0	28	56					C	128466403	G	C	128466403	3	2	119	1	0	0	0	0	1	0	0	0	17284	1174	41	4	389	4	WDR33	2	128466403	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08	58869178	128466403	114732970	5	2506											
NGEF	25791	broad.mit.edu	37	chr2	233791787	233791787	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtttctccaggagtcggCgggaatggggtggatcatcc	17	8	2	0			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr2:233791787C>T	ENST00000264051.3	-	4	771	c.493G>A	c.(493-495)Gcc>Acc	p.A165T	NGEF_ENST00000373552.4_Missense_Mutation_p.A73T|NGEF_ENST00000409079.1_Missense_Mutation_p.A73T	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	165	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42. {ECO:0000250}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		CAGGAGTCGGCGGGAATGGGG	0.642																																						ENST00000264051.3																			0				central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35						c.(493-495)Gcc>Acc		neuronal guanine nucleotide exchange factor							46	48	48					2																	233791787		2202	4300	6502	SO:0001583	missense	25791				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr2:233791787C>T	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"Rho guanine nucleotide exchange factors"	7807	protein-coding gene	gene with protein product	"ephexin"	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.493G>A	2.37:g.233791787C>T	ENSP00000264051:p.Ala165Thr					NGEF_ENST00000373552.4_Missense_Mutation_p.A73T|NGEF_ENST00000409079.1_Missense_Mutation_p.A73T	p.A165T	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)	4	771	-		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	165			Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).		B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	ENST00000264051.3	37	c.493G>A	CCDS2500.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.548713	0.45383	.	.	ENSG00000066248	ENST00000264051;ENST00000373552;ENST00000541023;ENST00000409079	T;T	0.72505	-0.54;-0.66	4.84	3.96	0.45880	.	0.180954	0.38778	N	0.001577	T	0.46054	0.1373	N	0.14661	0.345	0.80722	D	1	B;B;B	0.32507	0.003;0.024;0.373	B;B;B	0.13407	0.003;0.007;0.009	T	0.38457	-0.9660	10	0.30854	T	0.27	-23.5452	8.417	0.32676	0.1527:0.7668:0.0:0.0806	.	73;73;165	E9PC42;B4DMB8;Q8N5V2	.;.;NGEF_HUMAN	T	165;73;55;73	ENSP00000264051:A165T;ENSP00000362653:A73T	ENSP00000264051:A165T	A	-	1	0	NGEF	233500031	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	1.256000	0.32921	1.032000	0.39892	0.655000	0.94253	GCC		0.642	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		3	101	0	0	0	1	0	3	101					T	233791787	C	T	233791787	3	4	119	1	0	0	0	0	1	0	0	0	10394	768	27	1	1687	1	NGEF	2	233791787	Missense_Mutation	SNP	C	TCGA-DJ-A3UN-01A-11D-A22D-08	105325384	233791787	9407586	6	2507											
SETD5	55209	broad.mit.edu	37	chr3	9512205	9512205	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cttgactccaacactaacagCtgtgctgatagaccttccct	6	14	0	3			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr3:9512205C>G	ENST00000406341.1	+	18	2977	c.2787C>G	c.(2785-2787)agC>agG	p.S929R	SETD5_ENST00000407969.1_Missense_Mutation_p.S948R|SETD5_ENST00000402466.1_Missense_Mutation_p.S831R|SETD5_ENST00000302463.6_Missense_Mutation_p.S831R|SETD5_ENST00000402198.1_Missense_Mutation_p.S929R			Q9C0A6	SETD5_HUMAN	SET domain containing 5	929										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		ACACTAACAGCTGTGCTGATA	0.493																																						ENST00000402466.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2491-2493)agC>agG		SET domain containing 5							200	188	191					3																	9512205		1923	4131	6054	SO:0001583	missense	55209							g.chr3:9512205C>G	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.2787C>G	3.37:g.9512205C>G	ENSP00000383939:p.Ser929Arg					SETD5_ENST00000406341.1_Missense_Mutation_p.S929R|SETD5_ENST00000402198.1_Missense_Mutation_p.S929R|SETD5_ENST00000302463.6_Missense_Mutation_p.S831R|SETD5_ENST00000407969.1_Missense_Mutation_p.S948R	p.S831R			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	20	3261	+	Medulloblastoma(99;0.227)		929					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.2493C>G	CCDS46741.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.31|14.31	2.497258|2.497258	0.44352|0.44352	.|.	.|.	ENSG00000168137|ENSG00000168137	ENST00000399686;ENST00000421188|ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	.|D;D;D;D;D	.|0.92805	.|-2.79;-3.11;-2.79;-2.78;-3.11	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|0.436897	.|0.27531	.|N	.|0.018941	D|D	0.85885|0.85885	0.5801|0.5801	N|N	0.14661|0.14661	0.345|0.345	0.40055|0.40055	D|D	0.975827|0.975827	.|B;B;B	.|0.27416	.|0.178;0.045;0.148	.|B;B;B	.|0.23275	.|0.045;0.045;0.035	T|T	0.83227|0.83227	-0.0065|-0.0065	5|10	.|0.44086	.|T	.|0.13	-1.901|-1.901	18.9705|18.9705	0.92713|0.92713	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|598;831;929	.|B3KXG4;Q9C0A6-3;Q9C0A6	.|.;.;SETD5_HUMAN	V|R	597;260|929;831;929;948;831	.|ENSP00000385852:S929R;ENSP00000384429:S831R;ENSP00000383939:S929R;ENSP00000384114:S948R;ENSP00000302028:S831R	.|ENSP00000302028:S831R	L|S	+|+	1|3	2|2	SETD5|SETD5	9487205|9487205	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	4.271000|4.271000	0.58902|0.58902	2.478000|2.478000	0.83669|0.83669	0.585000|0.585000	0.79938|0.79938	CTG|AGC		0.493	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		8	293	0	0	0	1	0	8	293					G	9512205	C	G	9512205	3	3	119	1	0	0	0	0	1	0	0	0	14134	796	28	4	2853	4	SETD5	3	9512205	Missense_Mutation	SNP	C	TCGA-DJ-A3UN-01A-11D-A22D-08		9512205	188510225	7	2508											
CDCP1	64866	broad.mit.edu	37	chr3	45153738	45153738	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggtggcatcgattcggccGctgatggagtgagtgactcc	15	10	0	3			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr3:45153738G>A	ENST00000296129.1	-	3	626	c.492C>T	c.(490-492)agC>agT	p.S164S	CDCP1_ENST00000425231.2_Silent_p.S164S|CDCP1_ENST00000490471.1_5'Flank	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	164						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CGATTCGGCCGCTGATGGAGT	0.562																																						ENST00000296129.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29						c.(490-492)agC>agT		CUB domain containing protein 1							148	142	144					3																	45153738		2203	4300	6503	SO:0001819	synonymous_variant	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45153738G>A	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"CD molecules"	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.492C>T	3.37:g.45153738G>A						CDCP1_ENST00000425231.2_Silent_p.S164S	p.S164S	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	3	626	-			164					Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Silent	SNP	ENST00000296129.1	37	c.492C>T	CCDS2727.1																																																																																				0.562	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		5	249	0	0	0	1	0	5	249					A	45153738	G	A	45153738	2	1	119	1	0	0	0	0	0	0	0	1	3093	1078	38	1		1	CDCP1	3	45153738	Silent	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08	35641533	45153738	152868692	8	2509											
FAM194A	131831	broad.mit.edu	37	chr3	150421519	150421519	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cccccaccaactcctcctccAccacctcctcctcctcctcc	0	28	0	0	rs573303855	byFrequency	TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr3:150421519A>T	ENST00000295910.6	-	1	219	c.167T>A	c.(166-168)gTg>gAg	p.V56E	RP11-103G8.2_ENST00000471093.1_RNA|RP11-103G8.2_ENST00000475393.1_RNA|FAM194A_ENST00000491361.1_Intron	NM_152394.3	NP_689607.2												p.V56E(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ctcctcctccaccacctcctc	0.607													A|||	41	0.0081869	0.0091	0.0144	5008	,	,		1681	0.0069		0.0089	False		,,,				2504	0.0031					ENST00000295910.6																			1	Substitution - Missense(1)	p.V56E(1)	endometrium(1)	NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(166-168)gTg>gAg		family with sequence similarity 194, member A							198	156	171					3																	150421519		2203	4299	6502	SO:0001583	missense	131831							g.chr3:150421519A>T																												ENST00000295910.6:c.167T>A	3.37:g.150421519A>T	ENSP00000295910:p.Val56Glu					FAM194A_ENST00000491361.1_Intron|RP11-103G8.2_ENST00000471093.1_RNA	p.V56E	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN			1	219	-			56			Glu-rich.			Missense_Mutation	SNP	ENST00000295910.6	37	c.167T>A	CCDS3151.2	.	.	.	.	.	.	.	.	.	.	A	4.695	0.129296	0.08981	.	.	ENSG00000163645	ENST00000295910	T	0.13538	2.58	3.11	-4.8	0.03190	.	1.710190	0.03876	N	0.276462	T	0.04318	0.0119	N	0.08118	0	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.29181	-1.0020	10	0.02654	T	1	-0.1027	0.7864	0.01049	0.1614:0.2002:0.316:0.3224	.	56	Q7L0X2	F194A_HUMAN	E	56	ENSP00000295910:V56E	ENSP00000295910:V56E	V	-	2	0	FAM194A	151904209	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.158000	0.03153	-0.978000	0.03533	-0.472000	0.04984	GTG		0.607	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			3	17	0	0	0	1	0	3	17					T	150421519	A	T	150421519	3	4	119	1	0	0	0	0	1	0	0	0	5526	159	6	5	1880	5	FAM194A	3	150421519	Missense_Mutation	SNP	A	TCGA-DJ-A3UN-01A-11D-A22D-08	105267781	150421519	47600911	9	2510											
GMPS	8833	broad.mit.edu	37	chr3	155628609	155628609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgcagtggaaccttcaccGtgcagaacagagaacttgag	12	9	1	3	rs371983046		TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr3:155628609G>A	ENST00000496455.2	+	6	990	c.655G>A	c.(655-657)Gtg>Atg	p.V219M	GMPS_ENST00000295920.7_Missense_Mutation_p.V120M	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	219	GMPS ATP-PPase. {ECO:0000255|PROSITE- ProRule:PRU00886}.				glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	AACCTTCACCGTGCAGAACAG	0.393			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)	ENST00000496455.1				Dom	yes		3	3q24	8833	T	guanine monphosphate synthetase			L	MLL		AML		0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(655-657)Gtg>Atg		guanine monphosphate synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	G	MET/VAL	0,3752		0,0,1876	104	101	102		655	6.0	1.0	3		102	1,8211		0,1,4105	no	missense	GMPS	NM_003875.2	21	0,1,5981	AA,AG,GG		0.0122,0.0,0.0084	benign	219/694	155628609	1,11963	1876	4106	5982	SO:0001583	missense	8833				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity	g.chr3:155628609G>A	U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"GMP synthase"	600358	"guanine monphosphate synthetase"			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.655G>A	3.37:g.155628609G>A	ENSP00000419851:p.Val219Met					GMPS_ENST00000295920.7_Missense_Mutation_p.V120M	p.V219M	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		6	990	+			219					A8K639|B4DXV7|F8W720	Missense_Mutation	SNP	ENST00000496455.2	37	c.655G>A	CCDS46941.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.520132	0.27211	0.0	1.22E-4	ENSG00000163655	ENST00000496455;ENST00000295920;ENST00000537975;ENST00000541628	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.08582	0.0213	N	0.00069	-2.28	0.80722	D	1	P;P	0.37038	0.524;0.579	B;B	0.21917	0.022;0.037	T	0.54430	-0.8295	9	0.02654	T	1	-13.2532	20.5373	0.99239	0.0:0.0:1.0:0.0	.	120;219	F8W720;P49915	.;GUAA_HUMAN	M	219;120;168;219	.	ENSP00000295920:V120M	V	+	1	0	GMPS	157111303	1.000000	0.71417	0.986000	0.45419	0.787000	0.44495	9.338000	0.96553	2.857000	0.98124	0.650000	0.86243	GTG		0.393	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351260.2			3	124	0	0	0	1	0	3	124					A	155628609	G	A	155628609	3	1	119	1	0	0	0	0	1	0	0	0	6498	1145	40	1	677	1	GMPS	3	155628609	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08	5207090	155628609	42393821	10	2511											
IGFBP7	3490	broad.mit.edu	37	chr4	57976131	57976131	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcgcgcagctggcagccGctcgggtaggtggtgccgtc	19	13	0	0			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr4:57976131G>A	ENST00000295666.4	-	1	420	c.387C>T	c.(385-387)agC>agT	p.S129S	IGFBP7_ENST00000537922.1_Silent_p.S129S|IGFBP7-AS1_ENST00000508328.1_RNA|IGFBP7-AS1_ENST00000499667.2_RNA	NM_001553.2	NP_001544.1	Q16270	IBP7_HUMAN	insulin-like growth factor binding protein 7	129	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				cell adhesion (GO:0007155)|cellular response to hormone stimulus (GO:0032870)|embryo implantation (GO:0007566)|inner ear development (GO:0048839)|negative regulation of cell proliferation (GO:0008285)|regulation of cell growth (GO:0001558)|regulation of steroid biosynthetic process (GO:0050810)|response to cortisol (GO:0051414)|response to heat (GO:0009408)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(1)|lung(3)	5	Glioma(25;0.08)|all_neural(26;0.181)				"""Insulin(DB00071)|Insulin Regular(DB00030)"	GCTGGCAGCCGCTCGGGTAGG	0.721																																						ENST00000295666.4																			0				central_nervous_system(1)|endometrium(1)|lung(3)	5						c.(385-387)agC>agT		insulin-like growth factor binding protein 7	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						7	8	8					4																	57976131		2083	4098	6181	SO:0001819	synonymous_variant	3490				cell adhesion|negative regulation of cell proliferation|regulation of cell growth	extracellular space	insulin-like growth factor binding	g.chr4:57976131G>A	S75725	CCDS3512.1	4q12	2013-01-11			ENSG00000163453	ENSG00000163453		"Immunoglobulin superfamily / I-set domain containing"	5476	protein-coding gene	gene with protein product		602867				7694637, 7980422	Standard	NM_001553		Approved	MAC25, IGFBP-7, PSF, FSTL2	uc003hcn.3	Q16270	OTTHUMG00000128772	ENST00000295666.4:c.387C>T	4.37:g.57976131G>A						RP11-12A1.1_ENST00000499667.2_RNA|IGFBP7_ENST00000537922.1_Silent_p.S129S|RP11-12A1.1_ENST00000508328.1_RNA	p.S129S	NM_001553.2	NP_001544.1	Q16270	IBP7_HUMAN			1	420	-	Glioma(25;0.08)|all_neural(26;0.181)		129			Kazal-like.		B4E1N2|B7Z9W7|Q07822|Q53YE6|Q9UCA8	Silent	SNP	ENST00000295666.4	37	c.387C>T	CCDS3512.1																																																																																				0.721	IGFBP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250693.1			2	2	0	0	0	1	0	2	2					A	57976131	G	A	57976131	2	1	119	1	0	0	0	0	0	0	0	1	7584	1078	38	1		1	IGFBP7	4	57976131	Silent	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08		57976131	133178145	11	2512											
ENC1	8507	broad.mit.edu	37	chr5	73931990	73931990	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattgatgatgacccgggaGgagtacgcatagtcaagcag	13	8	2	3			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr5:73931990G>A	ENST00000302351.4	-	2	1451	c.321C>T	c.(319-321)tcC>tcT	p.S107S	ENC1_ENST00000510316.1_Silent_p.S34S|ENC1_ENST00000537006.1_Silent_p.S107S	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	107	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TGACCCGGGAGGAGTACGCAT	0.512																																						ENST00000302351.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20						c.(319-321)tcC>tcT		ectodermal-neural cortex 1 (with BTB domain)							115	106	109					5																	73931990		2203	4300	6503	SO:0001819	synonymous_variant	8507				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr5:73931990G>A	AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"Kelch-like", "BTB/POZ domain containing"	3345	protein-coding gene	gene with protein product	"kelch-like family member 37"	605173	"ectodermal-neural cortex 1 (with BTB-like domain)"	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.321C>T	5.37:g.73931990G>A						ENC1_ENST00000510316.1_Silent_p.S34S|ENC1_ENST00000537006.1_Silent_p.S107S	p.S107S	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)	2	1451	-		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)	107			BTB.		B4DHJ1|E9PFU0|O75464|Q9UPG9	Silent	SNP	ENST00000302351.4	37	c.321C>T	CCDS4021.1																																																																																				0.512	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2	NM_003633		3	133	0	0	0	1	0	3	133					A	73931990	G	A	73931990	2	1	119	1	0	0	0	0	0	0	0	1	5113	987	35	2		2	ENC1	5	73931990	Silent	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08		73931990	106983270	12	2513											
FBN2	2201	broad.mit.edu	37	chr5	127654570	127654570	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttagctggtaactgaccataCctgtacagttccctcctgtt	7	12	0	1			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr5:127654570C>G	ENST00000508053.1	-	41	5569		c.e41+1		FBN2_ENST00000262464.4_Splice_Site			P35556	FBN2_HUMAN	fibrillin 2						anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACTGACCATACCTGTACAGTT	0.383																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197	GRCh37	CS072202	FBN2	S		c.e41+1		fibrillin 2							107	97	100					5																	127654570		2203	4300	6503	SO:0001630	splice_region_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127654570C>G	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4594+1G>C	5.37:g.127654570C>G						FBN2_ENST00000262464.4_Splice_Site				P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	41	5569	-		all_cancers(142;0.0216)|Prostate(80;0.0551)						B4DU01|Q59ES6	Splice_Site	SNP	ENST00000508053.1	37		CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483608	0.84854	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5002	0.90878	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBN2	127682469	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.500000	0.81588	2.679000	0.91253	0.655000	0.94253	.		0.383	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	Intron	4	140	0	0	0	1	0	4	140					G	127654570	C	G	127654570	5	3	119	1	0	0	0	0	0	0	1	0	5703	521	18	4	4267	4	FBN2	5	127654570	Splice_Site	SNP	C	TCGA-DJ-A3UN-01A-11D-A22D-08	53722580	127654570	53260690	13	2514											
AMD1	262	broad.mit.edu	37	chr6	111210065	111210065	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttttcaactgcagtgagaGtagcatgtttgtctccaaga	9	7	2	2			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr6:111210065G>T	ENST00000368885.3	+	3	539	c.203G>T	c.(202-204)aGt>aTt	p.S68I	AMD1_ENST00000368876.1_5'UTR|AMD1_ENST00000451850.2_Intron|AMD1_ENST00000368882.3_Intron|AMD1_ENST00000368877.5_Missense_Mutation_p.S39I	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	68		Cleavage (non-hydrolytic); by autolysis.			cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|S-adenosylmethioninamine biosynthetic process (GO:0006557)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)	adenosylmethionine decarboxylase activity (GO:0004014)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	TGCAGTGAGAGTAGCATGTTT	0.383																																						ENST00000368885.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8						c.(202-204)aGt>aTt		adenosylmethionine decarboxylase 1	S-Adenosylmethionine(DB00118)						87	85	86					6																	111210065		2203	4300	6503	SO:0001583	missense	262				spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity	g.chr6:111210065G>T	M88006	CCDS5086.1, CCDS75504.1, CCDS75505.1	6q21	2014-05-13			ENSG00000123505	ENSG00000123505	4.1.1.50		457	protein-coding gene	gene with protein product		180980	"S-adenosylmethionine decarboxylase 1"				Standard	NM_001634		Approved	SAMDC	uc003puk.1	P17707	OTTHUMG00000015369	ENST00000368885.3:c.203G>T	6.37:g.111210065G>T	ENSP00000357880:p.Ser68Ile					AMD1_ENST00000368882.3_Intron|AMD1_ENST00000368876.1_5'UTR|AMD1_ENST00000368877.5_Missense_Mutation_p.S39I|AMD1_ENST00000451850.2_Intron	p.S68I	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	3	539	+		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)	68				Cleavage (non-hydrolytic); by autolysis.	E1P5F7|Q5VXN4|Q5VXN6|Q9BWK4	Missense_Mutation	SNP	ENST00000368885.3	37	c.203G>T	CCDS5086.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.863972	0.91511	.	.	ENSG00000123505	ENST00000368885;ENST00000368877	.	.	.	5.55	5.55	0.83447	S-adenosylmethionine decarboxylase, core (2);S-adenosylmethionine decarboxylase, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.88529	0.6461	H	0.95079	3.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.91411	0.5151	9	0.87932	D	0	.	19.5083	0.95130	0.0:0.0:1.0:0.0	.	39;68	A6NNH3;P17707	.;DCAM_HUMAN	I	68;39	.	ENSP00000357871:S39I	S	+	2	0	AMD1	111316758	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.539000	0.82063	2.611000	0.88343	0.591000	0.81541	AGT		0.383	AMD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041816.1			3	128	1	0	0.115264	1	0.115264	3	128					T	111210065	G	T	111210065	3	4	119	1	0	0	0	0	1	0	0	0	566	1029	36	4	213	4	AMD1	6	111210065	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08		111210065	59905002	14	2515											
TWIST1	7291	broad.mit.edu	37	chr7	19156404	19156404	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gaaggcgtagctgagccgctCgtgagccacatagctgcagc	14	12	0	2	rs104894058		TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr7:19156404C>A	ENST00000242261.5	-	1	891	c.541G>T	c.(541-543)Gag>Tag	p.E181*	AC003986.6_ENST00000419944.1_RNA	NM_000474.3	NP_000465.1	Q15672	TWST1_HUMAN	twist family bHLH transcription factor 1	181	Sufficient for transactivation activity. {ECO:0000250}.				aortic valve morphogenesis (GO:0003180)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in heart valve development (GO:2000793)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cranial suture morphogenesis (GO:0060363)|embryonic camera-type eye formation (GO:0060900)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cushion morphogenesis (GO:0003203)|eyelid development in camera-type eye (GO:0061029)|in utero embryonic development (GO:0001701)|mitral valve morphogenesis (GO:0003183)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of oxidative phosphorylation uncoupler activity (GO:2000276)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|outer ear morphogenesis (GO:0042473)|palate development (GO:0060021)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell motility (GO:2000147)|positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation (GO:2000802)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of bone mineralization (GO:0030500)|rhythmic process (GO:0048511)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription factor binding (GO:0008134)	p.E181*(1)		lung(2)|upper_aerodigestive_tract(1)	3						CTGAGCCGCTCGTGAGCCACA	0.657																																						ENST00000242261.5																			1	Substitution - Nonsense(1)	p.E181*(1)	upper_aerodigestive_tract(1)	lung(2)|upper_aerodigestive_tract(1)	3	GRCh37	CM990110	TWIST1	M	rs104894058	c.(541-543)Gag>Tag		twist family bHLH transcription factor 1							61	52	55					7																	19156404		2203	4300	6503	SO:0001587	stop_gained	7291				aortic valve morphogenesis|cellular response to hypoxia|embryonic camera-type eye formation|embryonic cranial skeleton morphogenesis|eyelid development in camera-type eye|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of histone phosphorylation|negative regulation of osteoblast differentiation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of cell motility|positive regulation of epithelial to mesenchymal transition|positive regulation of fatty acid beta-oxidation|positive regulation of monocyte chemotactic protein-1 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of tumor necrosis factor production|regulation of bone mineralization	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr7:19156404C>A	U80998	CCDS5367.1	7p21	2014-02-07	2013-10-17	2003-03-28	ENSG00000122691	ENSG00000122691		"Basic helix-loop-helix proteins"	12428	protein-coding gene	gene with protein product	"Saethre-Chotzen syndrome"	601622	"blepharophimosis, epicanthus inversus and ptosis 3", "acrocephalosyndactyly 3", "twist homolog 1 (Drosophila)", "twist basic helix-loop-helix transcription factor 1", "craniosynostosis"	ACS3, BPES3, TWIST, CRS		8995765, 11474656, 17343269	Standard	XR_428085		Approved	SCS, H-twist, BPES2, bHLHa38, CRS1	uc003sum.3	Q15672	OTTHUMG00000090821	ENST00000242261.5:c.541G>T	7.37:g.19156404C>A	ENSP00000242261:p.Glu181*						p.E181*	NM_000474.3	NP_000465.1	Q15672	TWST1_HUMAN			1	891	-			181			Sufficient for transactivation activity (By similarity).		A4D128|Q92487|Q99804	Nonsense_Mutation	SNP	ENST00000242261.5	37	c.541G>T	CCDS5367.1	.	.	.	.	.	.	.	.	.	.	c	28.3	4.910460	0.92107	.	.	ENSG00000122691	ENST00000242261	.	.	.	4.73	4.73	0.59995	.	0.000000	0.48767	D	0.000164	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-16.7111	17.3798	0.87401	0.0:1.0:0.0:0.0	.	.	.	.	X	181	.	ENSP00000242261:E181X	E	-	1	0	TWIST1	19122929	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.687000	0.84139	2.190000	0.69967	0.449000	0.29647	GAG		0.657	TWIST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207625.1	NM_000474		16	26	1	0	1.52009e-12	1	1.60454e-12	16	26					A	19156404	C	A	19156404	4	1	119	1	0	0	0	0	0	1	0	0	16780	893	31	4	71	4	TWIST1	7	19156404	Nonsense_Mutation	SNP	C	TCGA-DJ-A3UN-01A-11D-A22D-08		19156404	139982259	15	2516											
DOCK4	9732	broad.mit.edu	37	chr7	111474657	111474657	+	Frame_Shift_Del	DEL	T	T	-													cacttacccttagttcttccTttgtattaaaactatcaaga							TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr7:111474657delT	ENST00000437633.1	-	26	3078	c.2822delA	c.(2821-2823)aagfs	p.K941fs	DOCK4_ENST00000428084.1_Frame_Shift_Del_p.K941fs	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	941					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TAGTTCTTCCTTTGTATTAAA	0.313																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(2821-2823)agfs		dedicator of cytokinesis 4							44	44	44					7																	111474657		1814	4054	5868	SO:0001589	frameshift_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111474657delT		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.2822delA	7.37:g.111474657delT	ENSP00000404179:p.Lys941fs					DOCK4_ENST00000437633.1_Frame_Shift_Del_p.K941fs	p.K941fs			Q8N1I0	DOCK4_HUMAN			26	3094	-		Acute lymphoblastic leukemia(1;0.0441)	941					O14584|O94824|Q8NB45	Frame_Shift_Del	DEL	ENST00000437633.1	37	c.2822delA	CCDS47688.1																																																																																				0.313	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		2	4						2	4	---	---	---	---	-	111474657	T	-	111474657	7	5	119	1	0	1	0	1	0	0	0	0	4689	1609	56	0	3186	0	DOCK4	7	111474657	Frame_Shift_Del	DEL	T	TCGA-DJ-A3UN-01A-11D-A22D-08	92318253	111474657	47664006	16	2517											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		35	72	0	0	0	1	0	35	72					T	140453136	A	T	140453136	3	4	119	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3UN-01A-11D-A22D-08	28978479	140453136	18685527	17	2518											
GIMAP2	26157	broad.mit.edu	37	chr7	150389724	150389724	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggtgactcagctgggccGctatacctcacaggaccagc	11	15	2	1			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr7:150389724G>A	ENST00000223293.5	+	3	444	c.350G>A	c.(349-351)cGc>cAc	p.R117H		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	117	AIG1-type G.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	GTP binding (GO:0005525)			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGCTGGGCCGCTATACCTCA	0.552																																						ENST00000223293.5																			0				kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13						c.(349-351)cGc>cAc		GTPase, IMAP family member 2							48	42	44					7																	150389724		2203	4300	6503	SO:0001583	missense	26157					integral to membrane	GTP binding	g.chr7:150389724G>A	AL110151	CCDS5905.1	7q36.1	2014-04-04			ENSG00000106560	ENSG00000106560		"GTPases, IMAP"	21789	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 12"	608085				15474311	Standard	NM_015660		Approved	DKFZp586D0824, HIMAP2, IMAP2, IAN12	uc003who.3	Q9UG22	OTTHUMG00000157488	ENST00000223293.5:c.350G>A	7.37:g.150389724G>A	ENSP00000223293:p.Arg117His						p.R117H	NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	444	+			117					Q96L25	Missense_Mutation	SNP	ENST00000223293.5	37	c.350G>A	CCDS5905.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262386	0.39995	.	.	ENSG00000106560	ENST00000223293	T	0.08193	3.12	3.9	2.06	0.26882	AIG1 (1);	0.000000	0.64402	D	0.000001	T	0.23054	0.0557	M	0.85299	2.745	0.80722	D	1	D	0.76494	0.999	P	0.60886	0.88	T	0.00756	-1.1579	10	0.62326	D	0.03	.	6.1771	0.20449	0.2383:0.0:0.7617:0.0	.	117	Q9UG22	GIMA2_HUMAN	H	117	ENSP00000223293:R117H	ENSP00000223293:R117H	R	+	2	0	GIMAP2	150020657	0.996000	0.38824	0.820000	0.32676	0.042000	0.13812	2.686000	0.46968	0.440000	0.26502	0.609000	0.83330	CGC		0.552	GIMAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348948.1	NM_015660		3	56	0	0	0	1	0	3	56					A	150389724	G	A	150389724	3	1	119	1	0	0	0	0	1	0	0	0	6380	1087	38	1	356	1	GIMAP2	7	150389724	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08	9936588	150389724	8748939	18	2519											
CNOT7	29883	broad.mit.edu	37	chr8	17092255	17092255	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagctcttcatgaggtaCttcacatcataaatgacagg	8	9	4	2			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr8:17092255C>G	ENST00000361272.4	-	5	886	c.588G>C	c.(586-588)aaG>aaC	p.K196N	CNOT7_ENST00000523917.1_Missense_Mutation_p.K196N	NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	196					carbohydrate metabolic process (GO:0005975)|cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of cell proliferation (GO:0008285)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|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)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		TCATGAGGTACTTCACATCAT	0.413																																						ENST00000361272.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11						c.(586-588)aaG>aaC		CCR4-NOT transcription complex, subunit 7							139	128	132					8																	17092255		2203	4300	6503	SO:0001583	missense	29883				carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr8:17092255C>G	L46722	CCDS6000.2, CCDS55202.1	8p22-p21.3	2008-08-07			ENSG00000198791	ENSG00000198791			14101	protein-coding gene	gene with protein product	"BTG1 binding factor 1"	604913		CAF1		10637334, 1538749, 17264152	Standard	XM_005273481		Approved		uc003wxg.1	Q9UIV1	OTTHUMG00000096971	ENST00000361272.4:c.588G>C	8.37:g.17092255C>G	ENSP00000355279:p.Lys196Asn					CNOT7_ENST00000523917.1_Missense_Mutation_p.K196N	p.K196N	NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN		Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)	5	886	-			196					A8MZM5|B3KMP1|B3KN35|D3DSP6|G3V108|Q7Z530	Missense_Mutation	SNP	ENST00000361272.4	37	c.588G>C	CCDS6000.2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	18.92|18.92|18.92	3.726583|3.726583|3.726583	0.69074|0.69074|0.69074	.|.|.	.|.|.	ENSG00000198791|ENSG00000198791|ENSG00000198791	ENST00000361272;ENST00000523917|ENST00000519918|ENST00000518541	T;T|.|.	0.37915|.|.	1.17;1.17|.|.	5.06|5.06|5.06	4.19|4.19|4.19	0.49359|0.49359|0.49359	Ribonuclease H-like (1);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.75989|0.75989|0.75989	0.3925|0.3925|0.3925	M|M|M	0.87617|0.87617|0.87617	2.895|2.895|2.895	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D|.|.	0.89917|.|.	1.0;1.0|.|.	D;D|.|.	0.91635|.|.	0.996;0.999|.|.	T|T|T	0.78270|0.78270|0.78270	-0.2269|-0.2269|-0.2269	10|5|5	0.54805|.|.	T|.|.	0.06|.|.	-21.1729|-21.1729|-21.1729	9.6873|9.6873|9.6873	0.40107|0.40107|0.40107	0.0:0.7774:0.0:0.2226|0.0:0.7774:0.0:0.2226|0.0:0.7774:0.0:0.2226	.|.|.	196;196|.|.	G3V108;Q9UIV1|.|.	.;CNOT7_HUMAN|.|.	N|T|L	196|176|39	ENSP00000355279:K196N;ENSP00000429093:K196N|.|.	ENSP00000355279:K196N|.|.	K|S|V	-|-|-	3|2|1	2|0|0	CNOT7|CNOT7|CNOT7	17136626|17136626|17136626	0.999000|0.999000|0.999000	0.42202|0.42202|0.42202	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.999000|0.999000|0.999000	0.98932|0.98932|0.98932	0.740000|0.740000|0.740000	0.26188|0.26188|0.26188	1.449000|1.449000|1.449000	0.47699|0.47699|0.47699	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	AAG|AGT|GTA		0.413	CNOT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214038.1	NM_013354		39	100	0	0	0	1	0	39	100					G	17092255	C	G	17092255	3	3	119	1	0	0	0	0	1	0	0	0	3624	564	20	4	287	4	CNOT7	8	17092255	Missense_Mutation	SNP	C	TCGA-DJ-A3UN-01A-11D-A22D-08		17092255	129271767	19	2520											
DOK2	9046	broad.mit.edu	37	chr8	21767190	21767190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctcctggccccgaggccGtggagcaggcaccggtgtgg	16	16	0	0			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr8:21767190G>A	ENST00000276420.4	-	5	1129	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W	DOK2_ENST00000544659.1_Missense_Mutation_p.R137W	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	291	Pro-rich.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|leukocyte migration (GO:0050900)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	receptor signaling protein activity (GO:0005057)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		CCCCGAGGCCGTGGAGCAGGC	0.677																																						ENST00000276420.4																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26						c.(871-873)Cgg>Tgg		docking protein 2, 56kDa							45	49	48					8																	21767190		2203	4300	6503	SO:0001583	missense	9046				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding	g.chr8:21767190G>A	AF034970	CCDS6016.1	8p21.3	2008-08-07	2002-08-29		ENSG00000147443	ENSG00000147443			2991	protein-coding gene	gene with protein product		604997	"docking protein 2, 56kD"			9478921, 14645010	Standard	NM_003974		Approved	p56dok-2, Dok-2	uc003wzy.1	O60496	OTTHUMG00000131075	ENST00000276420.4:c.871C>T	8.37:g.21767190G>A	ENSP00000276420:p.Arg291Trp					DOK2_ENST00000544659.1_Missense_Mutation_p.R137W	p.R291W	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN		Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)	5	1129	-			291			Pro-rich.		Q8N5A4	Missense_Mutation	SNP	ENST00000276420.4	37	c.871C>T	CCDS6016.1	.	.	.	.	.	.	.	.	.	.	G	9.067	0.995885	0.19043	.	.	ENSG00000147443	ENST00000276420;ENST00000544659;ENST00000518197	T;T;T	0.47869	1.79;1.35;0.83	5.27	1.86	0.25419	.	0.909885	0.09022	N	0.860038	T	0.41003	0.1140	M	0.63428	1.95	0.09310	N	1	D;D	0.56035	0.974;0.974	B;B	0.40565	0.333;0.333	T	0.29119	-1.0022	10	0.38643	T	0.18	.	5.4262	0.16427	0.0934:0.1376:0.6196:0.1495	.	291;291	O60496;A8K7W1	DOK2_HUMAN;.	W	291;137;137	ENSP00000276420:R291W;ENSP00000443602:R137W;ENSP00000430729:R137W	ENSP00000276420:R291W	R	-	1	2	DOK2	21823136	0.009000	0.17119	0.001000	0.08648	0.053000	0.15095	1.483000	0.35497	0.543000	0.28864	0.655000	0.94253	CGG		0.677	DOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253735.3	NM_003974		4	165	0	0	0	1	0	4	165					A	21767190	G	A	21767190	3	1	119	1	0	0	0	0	1	0	0	0	4697	1144	40	1	371	1	DOK2	8	21767190	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08	4674935	21767190	124596832	20	2521											
ADRA1A	148	broad.mit.edu	37	chr8	26722176	26722176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcacagcacatccactGccgcccagatgttgcagaag	10	14	0	2			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr8:26722176G>A	ENST00000519229.1	-	1	317	c.311C>T	c.(310-312)gCa>gTa	p.A104V	ADRA1A_ENST00000380572.3_Missense_Mutation_p.A104V|ADRA1A_ENST00000380573.3_Missense_Mutation_p.A104V|ADRA1A_ENST00000354550.4_Missense_Mutation_p.A104V|ADRA1A_ENST00000276393.4_Missense_Mutation_p.A104V|ADRA1A_ENST00000380581.2_Missense_Mutation_p.A104V|ADRA1A_ENST00000380587.1_Missense_Mutation_p.A104V|ADRA1A_ENST00000380586.1_Missense_Mutation_p.A104V|ADRA1A_ENST00000358857.5_Missense_Mutation_p.A104V|ADRA1A_ENST00000380582.3_Missense_Mutation_p.A104V			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	174					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	CACATCCACTGCCGCCCAGAT	0.632																																						ENST00000380573.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36						c.(310-312)gCa>gTa		adrenoceptor alpha 1A	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)						104	97	99					8																	26722176		2203	4300	6503	SO:0001583	missense	148				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr8:26722176G>A	L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"GPCR / Class A : Adrenoceptors : alpha"	277	protein-coding gene	gene with protein product		104221	"adrenergic, alpha-1A-, receptor"	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.311C>T	8.37:g.26722176G>A	ENSP00000430793:p.Ala104Val					ADRA1A_ENST00000354550.4_Missense_Mutation_p.A104V|ADRA1A_ENST00000380586.1_Missense_Mutation_p.A104V|ADRA1A_ENST00000380587.1_Missense_Mutation_p.A104V|ADRA1A_ENST00000380581.2_Missense_Mutation_p.A104V|ADRA1A_ENST00000380582.3_Missense_Mutation_p.A104V|ADRA1A_ENST00000519229.1_Missense_Mutation_p.A104V|ADRA1A_ENST00000380572.3_Missense_Mutation_p.A104V|ADRA1A_ENST00000358857.5_Missense_Mutation_p.A104V|ADRA1A_ENST00000276393.4_Missense_Mutation_p.A104V	p.A104V			P35348	ADA1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	2	1334	-		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)	104					Q9NPY0	Missense_Mutation	SNP	ENST00000519229.1	37	c.311C>T		.	.	.	.	.	.	.	.	.	.	G	27.4	4.830216	0.91036	.	.	ENSG00000120907	ENST00000380586;ENST00000380587;ENST00000380582;ENST00000380581;ENST00000519229;ENST00000354550;ENST00000276393;ENST00000380573;ENST00000380572;ENST00000358857	T;T;T;T;T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19	4.83	4.83	0.62350	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.62048	0.2396	M	0.74467	2.265	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.997;0.997;1.0;0.999;0.998;0.999	T	0.67337	-0.5696	10	0.87932	D	0	.	17.898	0.88895	0.0:0.0:1.0:0.0	.	104;104;104;104;104;104	P35348-9;P35348-8;P35348;P35348-4;P35348-3;B0ZBD3	.;.;ADA1A_HUMAN;.;.;.	V	104	ENSP00000369960:A104V;ENSP00000369961:A104V;ENSP00000369956:A104V;ENSP00000369955:A104V;ENSP00000430793:A104V;ENSP00000346557:A104V;ENSP00000276393:A104V;ENSP00000369947:A104V;ENSP00000369946:A104V;ENSP00000351725:A104V	ENSP00000276393:A104V	A	-	2	0	ADRA1A	26778093	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.807000	0.99171	2.365000	0.80145	0.563000	0.77884	GCA		0.632	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	NM_033303		46	86	0	0	0	1	0	46	86					A	26722176	G	A	26722176	3	1	119	1	0	0	0	0	1	0	0	0	334	1319	46	2	1388	2	ADRA1A	8	26722176	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08	4954986	26722176	119641846	21	2522											
PLAG1	5324	broad.mit.edu	37	chr8	57078936	57078936	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatcctgtgtttgtggggGgagctgggaaacagaagaat	16	4	0	3			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr8:57078936G>A	ENST00000316981.3	-	5	1848	c.1369C>T	c.(1369-1371)Ccc>Tcc	p.P457S	PLAG1_ENST00000423799.2_Missense_Mutation_p.P375S|PLAG1_ENST00000429357.2_Missense_Mutation_p.P457S	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	457	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GTTTGTGGGGGGAGCTGGGAA	0.478			T	"TCEA1, LIFR, CTNNB1, CHCHD7"	salivary adenoma																																	ENST00000316981.3				Dom	yes		8	8q12	5324	T	pleiomorphic adenoma gene 1			E	"TCEA1, LIFR, CTNNB1, CHCHD7"		salivary adenoma	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1369-1371)Ccc>Tcc		pleiomorphic adenoma gene 1							127	128	128					8																	57078936		2203	4300	6503	SO:0001583	missense	5324					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:57078936G>A	U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"Zinc fingers, C2H2-type"	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.1369C>T	8.37:g.57078936G>A	ENSP00000325546:p.Pro457Ser					PLAG1_ENST00000429357.2_Missense_Mutation_p.P457S|PLAG1_ENST00000423799.2_Missense_Mutation_p.P375S	p.P457S	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	Epithelial(17;0.00179)|all cancers(17;0.0125)		5	1848	-		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	457			Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.		B4DLC2|Q59GH8|Q9Y4L2	Missense_Mutation	SNP	ENST00000316981.3	37	c.1369C>T	CCDS6165.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460762	0.63513	.	.	ENSG00000181690	ENST00000316981;ENST00000423799;ENST00000429357	T;T;T	0.12984	2.63;3.33;2.63	6.03	6.03	0.97812	.	0.163320	0.56097	D	0.000040	T	0.24699	0.0599	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.04708	-1.0932	10	0.19590	T	0.45	-22.8173	20.5666	0.99351	0.0:0.0:1.0:0.0	.	457	Q6DJT9	PLAG1_HUMAN	S	457;375;457	ENSP00000325546:P457S;ENSP00000404067:P375S;ENSP00000416537:P457S	ENSP00000325546:P457S	P	-	1	0	PLAG1	57241490	1.000000	0.71417	0.783000	0.31826	0.991000	0.79684	6.143000	0.71756	2.854000	0.98071	0.655000	0.94253	CCC		0.478	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378212.1	NM_002655		4	189	0	0	0	1	0	4	189					A	57078936	G	A	57078936	3	1	119	1	0	0	0	0	1	0	0	0	12018	1232	43	2	137	2	PLAG1	8	57078936	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08	30356760	57078936	89285086	22	2523											
EPPK1	83481	broad.mit.edu	37	chr8	144940551	144940551	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggatctcgccgcccaccaCgcccgcggccacggcctcct	10	22	1	0	rs201579633	byFrequency	TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr8:144940551C>A	ENST00000525985.1	-	2	6942	c.6871G>T	c.(6871-6873)Gtg>Ttg	p.V2291L				P58107	EPIPL_HUMAN	epiplakin 1	2291						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.V2291M(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCGCCCACCACGCCCGCGGCC	0.721																																						ENST00000525985.1																			1	Substitution - Missense(1)	p.V2291M(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6871-6873)Gtg>Ttg		epiplakin 1							74	75	74					8																	144940551		2167	4249	6416	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940551C>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6871G>T	8.37:g.144940551C>A	ENSP00000436337:p.Val2291Leu						p.V2291L			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	6942	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2291					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6871G>T		.	.	.	.	.	.	.	.	.	.	C	14.47	2.544751	0.45280	.	.	ENSG00000227184	ENST00000525985	T	0.54479	0.57	4.63	2.79	0.32731	.	.	.	.	.	T	0.31295	0.0792	N	0.01473	-0.845	0.29005	N	0.887257	B	0.24768	0.111	B	0.42422	0.387	T	0.42413	-0.9453	9	0.02654	T	1	.	12.5997	0.56491	0.0:0.5022:0.4978:0.0	.	2291	E9PPU0	.	L	2291	ENSP00000436337:V2291L	ENSP00000436337:V2291L	V	-	1	0	EPPK1	145012539	0.000000	0.05858	1.000000	0.80357	0.999000	0.98932	-0.768000	0.04715	0.545000	0.28902	0.586000	0.80456	GTG		0.721	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		11	170	1	0	0.000151284	1	0.000153302	11	170					A	144940551	C	A	144940551	3	1	119	1	0	0	0	0	1	0	0	0	5190	536	19	4	395	4	EPPK1	8	144940551	Missense_Mutation	SNP	C	TCGA-DJ-A3UN-01A-11D-A22D-08	87861615	144940551	1423471	23	2524											
SYK	6850	broad.mit.edu	37	chr9	93629413	93629413	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgccgttgtggtttctagActtggtcagcgggtggaata	14	6	2	1			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr9:93629413A>G	ENST00000375754.4	+	7	995	c.847A>G	c.(847-849)Act>Gct	p.T283A	SYK_ENST00000375751.4_Intron|SYK_ENST00000375747.1_Intron|SYK_ENST00000375746.1_Splice_Site_p.T283A	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	283	Interdomain B.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TGGTTTCTAGACTTGGTCAGC	0.438			T	"ETV6, ITK"	"MDS, peripheral T-cell lymphoma"																																	ENST00000375754.4				Dom	yes		9	9q22	6850	T	spleen tyrosine kinase			L	"ETV6, ITK"		"MDS, peripheral T-cell lymphoma"		0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						c.e7-1		spleen tyrosine kinase							175	168	170					9																	93629413		2203	4300	6503	SO:0001630	splice_region_variant	6850				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	g.chr9:93629413A>G	L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"SH2 domain containing"	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.847-1A>G	9.37:g.93629413A>G						SYK_ENST00000375747.1_Intron|SYK_ENST00000375751.4_Intron|SYK_ENST00000375746.1_Splice_Site_p.T283_splice	p.T283_splice	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN			7	995	+			283			Linker.			Splice_Site	SNP	ENST00000375754.4	37	c.846_splice	CCDS6688.1	.	.	.	.	.	.	.	.	.	.	A	12.32	1.901351	0.33535	.	.	ENSG00000165025	ENST00000375754;ENST00000375746	T;T	0.72615	-0.67;-0.67	4.24	3.06	0.35304	.	0.876721	0.09721	N	0.764365	T	0.58779	0.2146	L	0.34521	1.04	0.35160	D	0.770582	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.55289	-0.8164	9	.	.	.	.	10.5171	0.44896	0.9207:0.0:0.0793:0.0	.	283;283	P43405;C3W981	KSYK_HUMAN;.	A	283	ENSP00000364907:T283A;ENSP00000364898:T283A	.	T	+	1	0	SYK	92669234	0.711000	0.27906	0.993000	0.49108	0.993000	0.82548	0.998000	0.29744	0.930000	0.37217	0.482000	0.46254	ACT		0.438	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1		Missense_Mutation	6	123	0	0	0	1	0	6	123					G	93629413	A	G	93629413	5	3	119	1	0	0	0	0	0	0	1	0	15435	289	10	3	869	3	SYK	9	93629413	Splice_Site	SNP	A	TCGA-DJ-A3UN-01A-11D-A22D-08		93629413	47584018	24	2525											
C10orf47	254427	broad.mit.edu	37	chr10	11908732	11908732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcgacttagtgcagccagCacctggcgccggggaagccg	14	14	0	0			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr10:11908732C>T	ENST00000277570.5	+	3	495	c.341C>T	c.(340-342)gCa>gTa	p.A114V	PROSER2-AS1_ENST00000445498.1_RNA|PROSER2-AS1_ENST00000453242.1_RNA|PROSER2_ENST00000474155.1_3'UTR|PROSER2_ENST00000379200.1_5'Flank	NM_153256.3	NP_694988.3	Q86WR7	PRSR2_HUMAN	proline and serine rich 2	114																	GTGCAGCCAGCACCTGGCGCC	0.642																																						ENST00000277570.5																			0											c.(340-342)gCa>gTa		proline and serine-rich protein 2							39	36	37					10																	11908732		2203	4300	6503	SO:0001583	missense	254427							g.chr10:11908732C>T	BC017269	CCDS7085.1	10p14	2014-02-19	2014-02-19	2012-12-05	ENSG00000148426	ENSG00000148426			23728	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 47", "proline and serine-rich protein 2"	C10orf47		12477932	Standard	NM_153256		Approved	MGC35403	uc001ikx.3	Q86WR7	OTTHUMG00000017673	ENST00000277570.5:c.341C>T	10.37:g.11908732C>T	ENSP00000277570:p.Ala114Val					PROSER2_ENST00000474155.1_3'UTR|PROSER2-AS1_ENST00000445498.1_RNA|PROSER2-AS1_ENST00000453242.1_RNA	p.A114V	NM_153256.3	NP_694988.3					3	495	+								D3DRR8|Q5W0J9|Q5W0K0|Q5W0K1|Q5W0K2|Q6PJC8|Q8N317	Missense_Mutation	SNP	ENST00000277570.5	37	c.341C>T	CCDS7085.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908760	0.33721	.	.	ENSG00000148426	ENST00000379208;ENST00000277570;ENST00000379202	T	0.08282	3.11	5.34	-9.2	0.00682	.	1.758700	0.03164	N	0.169776	T	0.03827	0.0108	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.41270	-0.9518	10	0.87932	D	0	-8.1453	5.686	0.17803	0.1278:0.5088:0.093:0.2703	.	114	Q86WR7	CJ047_HUMAN	V	114	ENSP00000277570:A114V	ENSP00000277570:A114V	A	+	2	0	C10orf47	11948738	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.566000	0.05922	-1.852000	0.01166	-0.244000	0.11960	GCA		0.642	PROSER2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090189.2	NM_153256		3	83	0	0	0	1	0	3	83					T	11908732	C	T	11908732	3	4	119	1	0	0	0	0	1	0	0	0	1605	710	25	2	347	2	C10orf47	10	11908732	Missense_Mutation	SNP	C	TCGA-DJ-A3UN-01A-11D-A22D-08		11908732	123626015	25	2526											
C10orf120	399814	broad.mit.edu	37	chr10	124457437	124457437	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttaggcctgcgatggaccGttccggtttctttgcgggga	15	9	1	0	rs529409006		TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr10:124457437G>A	ENST00000329446.4	-	3	851	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	274										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GCGATGGACCGTTCCGGTTTC	0.378													G|||	1	0.000199681	0	0	5008	,	,		20300	0.001		0	False		,,,				2504	0					ENST00000329446.4																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21						c.(820-822)Cgg>Tgg		chromosome 10 open reading frame 120							164	161	162					10																	124457437		2203	4300	6503	SO:0001583	missense	399814							g.chr10:124457437G>A		CCDS31302.1	10q26.13	2012-06-12			ENSG00000183559	ENSG00000183559			25707	protein-coding gene	gene with protein product							Standard	NM_001010912		Approved	bA318C4.1	uc001lgn.3	Q5SQS8	OTTHUMG00000019187	ENST00000329446.4:c.820C>T	10.37:g.124457437G>A	ENSP00000331012:p.Arg274Trp						p.R274W	NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN			3	851	-		all_neural(114;0.169)|Glioma(114;0.222)	274					B2RU17	Missense_Mutation	SNP	ENST00000329446.4	37	c.820C>T	CCDS31302.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667963	0.47677	.	.	ENSG00000183559	ENST00000329446	T	0.54071	0.59	4.78	-0.958	0.10347	.	0.000000	0.46442	D	0.000291	T	0.62307	0.2417	M	0.64997	1.995	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54456	-0.8291	10	0.66056	D	0.02	-23.7431	7.5466	0.27770	0.0862:0.0:0.2883:0.6255	.	274	Q5SQS8	CJ120_HUMAN	W	274	ENSP00000331012:R274W	ENSP00000331012:R274W	R	-	1	2	C10orf120	124447427	0.004000	0.15560	0.001000	0.08648	0.002000	0.02628	0.264000	0.18497	-0.263000	0.09378	-0.142000	0.14014	CGG		0.378	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050803.1	NM_001010912		4	211	0	0	0	1	0	4	211					A	124457437	G	A	124457437	3	1	119	1	0	0	0	0	1	0	0	0	1590	1144	40	1	191	1	C10orf120	10	124457437	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08	112548705	124457437	11077310	26	2527											
PITPNM1	9600	broad.mit.edu	37	chr11	67267884	67267884	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gtgggcccgcagcatcacccGacgcagacctgcaggtgccc	13	17	1	1			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr11:67267884G>C	ENST00000534749.1	-	5	837	c.649C>G	c.(649-651)Cgg>Ggg	p.R217G	PITPNM1_ENST00000356404.3_Missense_Mutation_p.R217G|PITPNM1_ENST00000436757.2_Missense_Mutation_p.R217G			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	217					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						AGCATCACCCGACGCAGACCT	0.657																																					GBM(28;144 709 4607 5525)	ENST00000356404.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(649-651)Cgg>Ggg		phosphatidylinositol transfer protein, membrane-associated 1							56	61	59					11																	67267884		2199	4285	6484	SO:0001583	missense	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67267884G>C	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"PYK2 N-terminal domain-interacting receptor 2", "retinal degeneration B alpha 1"	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.649C>G	11.37:g.67267884G>C	ENSP00000437286:p.Arg217Gly					PITPNM1_ENST00000436757.2_Missense_Mutation_p.R217G|PITPNM1_ENST00000534749.1_Missense_Mutation_p.R217G	p.R217G	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN			6	874	-			217					A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	ENST00000534749.1	37	c.649C>G	CCDS31620.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.844529	0.32606	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404	T;T;T	0.52983	0.64;0.64;0.64	4.02	-2.38	0.06622	START-like domain (1);	0.143236	0.31233	N	0.008004	T	0.58337	0.2115	M	0.79614	2.46	0.28005	N	0.935138	P;P	0.47545	0.706;0.897	B;P	0.53593	0.405;0.73	T	0.64317	-0.6436	10	0.87932	D	0	-30.394	14.641	0.68726	0.0:0.0:0.1896:0.8104	.	217;217	O00562-2;O00562	.;PITM1_HUMAN	G	217	ENSP00000437286:R217G;ENSP00000398787:R217G;ENSP00000348772:R217G	ENSP00000348772:R217G	R	-	1	2	PITPNM1	67024460	0.998000	0.40836	0.286000	0.24833	0.870000	0.49936	2.714000	0.47202	-0.187000	0.10516	0.555000	0.69702	CGG		0.657	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		65	112	0	0	0	1	0	65	112					C	67267884	G	C	67267884	3	2	119	1	0	0	0	0	1	0	0	0	11950	1057	37	4	3161	4	PITPNM1	11	67267884	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08		67267884	67738632	27	2528											
GPR83	10888	broad.mit.edu	37	chr11	94113644	94113644	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggatgaccttgctggacaGgaggaggacgtagcagttga	17	7	0	2			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr11:94113644G>A	ENST00000243673.2	-	4	1114	c.943C>T	c.(943-945)Ctg>Ttg	p.L315L	GPR83_ENST00000539203.2_Silent_p.L273L	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	315					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTGCTGGACAGGAGGAGGACG	0.537																																						ENST00000243673.2																			0				NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19						c.(943-945)Ctg>Ttg		G protein-coupled receptor 83							147	112	124					11																	94113644		2201	4298	6499	SO:0001819	synonymous_variant	10888					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr11:94113644G>A	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"GPCR / Class A : Orphans"	4523	protein-coding gene	gene with protein product		605569	"G protein-coupled receptor 72"	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.943C>T	11.37:g.94113644G>A						GPR83_ENST00000539203.2_Silent_p.L273L	p.L315L	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN			4	1114	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	315					B0M0K5|Q6NWR4|Q9P1Y8	Silent	SNP	ENST00000243673.2	37	c.943C>T	CCDS8297.1																																																																																				0.537	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540		3	169	0	0	0	1	0	3	169					A	94113644	G	A	94113644	2	1	119	1	0	0	0	0	0	0	0	1	6713	991	35	2		2	GPR83	11	94113644	Silent	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08	26845760	94113644	40892872	28	2529											
STAT6	6778	broad.mit.edu	37	chr12	57490363	57490363	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctccagctgggatcaccaacTggggttggcccttaggtcca	12	13	1	0			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr12:57490363T>A	ENST00000300134.3	-	22	2861	c.2536A>T	c.(2536-2538)Agt>Tgt	p.S846C	STAT6_ENST00000556155.1_Missense_Mutation_p.S846C|STAT6_ENST00000538913.2_Missense_Mutation_p.S736C|STAT6_ENST00000454075.3_Missense_Mutation_p.S846C|STAT6_ENST00000543873.2_Missense_Mutation_p.S846C|STAT6_ENST00000537215.2_Missense_Mutation_p.S736C	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	846					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GATCACCAACTGGGGTTGGCC	0.607																																						ENST00000300134.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						c.(2536-2538)Agt>Tgt		signal transducer and activator of transcription 6, interleukin-4 induced							111	112	112					12																	57490363		2203	4300	6503	SO:0001583	missense	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57490363T>A	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"SH2 domain containing"	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.2536A>T	12.37:g.57490363T>A	ENSP00000300134:p.Ser846Cys					STAT6_ENST00000537215.2_Missense_Mutation_p.S736C|STAT6_ENST00000454075.3_Missense_Mutation_p.S846C|STAT6_ENST00000543873.2_Missense_Mutation_p.S846C|STAT6_ENST00000556155.1_Missense_Mutation_p.S846C|STAT6_ENST00000538913.2_Missense_Mutation_p.S736C	p.S846C	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN			22	2861	-			846					A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	c.2536A>T	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.970303	0.74246	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075	D;D;D;D;D;D	0.93953	-3.04;-3.32;-3.04;-3.04;-3.32;-3.04	5.3	5.3	0.74995	.	0.000000	0.56097	D	0.000030	D	0.88448	0.6439	N	0.19112	0.55	0.34089	D	0.660508	D;D	0.56287	0.975;0.975	P;P	0.44647	0.456;0.456	D	0.92417	0.5942	10	0.87932	D	0	-0.8777	11.6407	0.51230	0.0:0.0:0.0:1.0	.	846;846	A8K4S9;P42226	.;STAT6_HUMAN	C	846;736;736;846;846;736;846	ENSP00000300134:S846C;ENSP00000445409:S736C;ENSP00000438451:S846C;ENSP00000451742:S846C;ENSP00000444530:S736C;ENSP00000401486:S846C	ENSP00000300134:S846C	S	-	1	0	STAT6	55776630	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.858000	0.55979	2.007000	0.58848	0.459000	0.35465	AGT		0.607	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		5	292	0	0	0	1	0	5	292					A	57490363	T	A	57490363	3	1	119	1	0	0	0	0	1	0	0	0	15269	1580	55	5	11	5	STAT6	12	57490363	Missense_Mutation	SNP	T	TCGA-DJ-A3UN-01A-11D-A22D-08		57490363	76361532	29	2530											
SKA3	221150	broad.mit.edu	37	chr13	21729267	21729267	+	3'UTR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattttgttcagtttctgtGttggatagatccactggaat	9	6	3	1	rs11147977	byFrequency	TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr13:21729267G>A	ENST00000314759.5	-	0	1385				SKA3_ENST00000400018.3_Missense_Mutation_p.T381I	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3						chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CAGTTTCTGTGTTGGATAGAT	0.363																																						ENST00000400018.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1141-1143)aCa>aTa		spindle and kinetochore associated complex subunit 3							141	146	144					13																	21729267		2202	4300	6502	SO:0001624	3_prime_UTR_variant	221150				cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding	g.chr13:21729267G>A	AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480			20262	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 3"	C13orf3		19387489, 19289083, 19646878, 19360002	Standard	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000314759.5:c.*22C>T	13.37:g.21729267G>A						SKA3_ENST00000314759.5_3'UTR	p.T381I	NM_001166017.1	NP_001159489.1	Q8IX90	SKA3_HUMAN			8	1211	-			0					A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Missense_Mutation	SNP	ENST00000314759.5	37	c.1142C>T	CCDS31946.1	234	0.10714285714285714	10	0.02032520325203252	48	0.13259668508287292	96	0.16783216783216784	80	0.10554089709762533	A	1.991	-0.431860	0.04669	.	.	ENSG00000165480	ENST00000400018	T	0.22945	1.93	4.07	-0.905	0.10527	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30357	-0.9981	8	0.41790	T	0.15	.	4.7384	0.13001	0.4657:0.1694:0.365:0.0	rs11147977;rs52815571;rs61114986;rs11147977	381	Q8IX90-3	.	I	381	ENSP00000382896:T381I	ENSP00000382896:T381I	T	-	2	0	SKA3	20627267	0.001000	0.12720	0.000000	0.03702	0.014000	0.08584	0.200000	0.17257	-0.416000	0.07473	-0.893000	0.02921	ACA		0.363	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000272912.1	NM_145061		7	40	0	0	0	1	0	7	40					A	21729267	G	A	21729267	1	1	119	0	1	0	0	0	0	0	0	0	14354	1377	48	2		2	SKA3	13	21729267	3'UTR	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08		21729267	93440611	30	2531											
SPG20	23111	broad.mit.edu	37	chr13	36903501	36903501	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tattactcttttatttacccTttttccacgttttcctttat	1	10	1	0			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr13:36903501T>C	ENST00000451493.1	-	4	1379	c.1162A>G	c.(1162-1164)Agg>Ggg	p.R388G	SPG20_ENST00000494062.2_Missense_Mutation_p.R388G|SPG20_ENST00000355182.4_Missense_Mutation_p.R388G|SPG20_ENST00000438666.2_Missense_Mutation_p.R388G|SPG20_ENST00000495510.1_5'UTR	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	388					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TTATTTACCCTTTTTCCACGT	0.373																																						ENST00000451493.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27						c.(1162-1164)Agg>Ggg		spastic paraplegia 20 (Troyer syndrome)							319	280	293					13																	36903501		2203	4300	6503	SO:0001583	missense	23111				cell death	cytoplasm	ubiquitin protein ligase binding	g.chr13:36903501T>C	AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"spartin"	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.1162A>G	13.37:g.36903501T>C	ENSP00000414147:p.Arg388Gly					SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000355182.4_Missense_Mutation_p.R388G|SPG20_ENST00000438666.2_Missense_Mutation_p.R388G|SPG20_ENST00000494062.2_Missense_Mutation_p.R388G	p.R388G	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)	4	1379	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	388					O60349|Q86Y67|Q9H1T2|Q9H1T3	Missense_Mutation	SNP	ENST00000451493.1	37	c.1162A>G	CCDS9356.1	.	.	.	.	.	.	.	.	.	.	T	9.931	1.214902	0.22373	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	D;D;D	0.88664	-2.41;-2.41;-2.41	5.28	5.28	0.74379	.	0.441056	0.25244	N	0.032064	T	0.76814	0.4040	N	0.08118	0	0.28632	N	0.907605	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.65623	-0.6123	10	0.24483	T	0.36	-15.9335	11.5883	0.50931	0.0:0.0:0.0:1.0	.	388;388	B3KMI3;Q8N0X7	.;SPG20_HUMAN	G	388	ENSP00000406061:R388G;ENSP00000347314:R388G;ENSP00000414147:R388G	ENSP00000347314:R388G	R	-	1	2	SPG20	35801501	1.000000	0.71417	1.000000	0.80357	0.428000	0.31595	1.288000	0.33296	1.997000	0.58415	0.377000	0.23210	AGG		0.373	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2			3	242	0	0	0	1	0	3	242					C	36903501	T	C	36903501	3	2	119	1	0	0	0	0	1	0	0	0	15041	1608	56	3	862	3	SPG20	13	36903501	Missense_Mutation	SNP	T	TCGA-DJ-A3UN-01A-11D-A22D-08	15174234	36903501	78266377	31	2532											
MBIP	51562	broad.mit.edu	37	chr14	36789689	36789689	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaaccagggtgtgtagggAgcgaaagatttcgtagagca	14	7	0	2			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr14:36789689A>C	ENST00000416007.4	-	1	193	c.106T>G	c.(106-108)Tcc>Gcc	p.S36A	MBIP_ENST00000359527.7_Missense_Mutation_p.S36A|MBIP_ENST00000318473.7_Missense_Mutation_p.S36A	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	36					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|inactivation of MAPK activity involved in osmosensory signaling pathway (GO:0000173)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein kinase inhibitor activity (GO:0004860)			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		GTGTGTAGGGAGCGAAAGATT	0.577																																						ENST00000416007.4																			0				breast(2)|large_intestine(1)|lung(5)	8						c.(106-108)Tcc>Gcc		MAP3K12 binding inhibitory protein 1							85	74	77					14																	36789689		2203	4300	6503	SO:0001583	missense	51562				histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity	g.chr14:36789689A>C	BC016821	CCDS9658.1, CCDS45096.1	14q13.2	2005-01-10			ENSG00000151332	ENSG00000151332			20427	protein-coding gene	gene with protein product		609431				10801814	Standard	NM_016586		Approved		uc001wtm.2	Q9NS73	OTTHUMG00000140222	ENST00000416007.4:c.106T>G	14.37:g.36789689A>C	ENSP00000399718:p.Ser36Ala					MBIP_ENST00000318473.7_Missense_Mutation_p.S36A|MBIP_ENST00000359527.7_Missense_Mutation_p.S36A	p.S36A	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)	1	193	-	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		36					Q86TZ2|Q96AS5|Q9BS93|Q9NZE1	Missense_Mutation	SNP	ENST00000416007.4	37	c.106T>G	CCDS9658.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.02|11.02	1.516533|1.516533	0.27123|0.27123	.|.	.|.	ENSG00000151332|ENSG00000151332	ENST00000553977;ENST00000553549|ENST00000416007;ENST00000318473;ENST00000359527;ENST00000396329;ENST00000553298	.|T;T;T	.|0.39229	.|1.09;1.09;1.09	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	.|0.070686	.|0.64402	.|D	.|0.000012	T|T	0.48390|0.48390	0.1497|0.1497	L|L	0.34521|0.34521	1.04|1.04	0.41486|0.41486	D|D	0.988192|0.988192	.|B;D;B	.|0.61697	.|0.007;0.99;0.007	.|B;D;B	.|0.73380	.|0.007;0.98;0.007	T|T	0.31752|0.31752	-0.9932|-0.9932	5|10	.|0.12766	.|T	.|0.61	-10.0349|-10.0349	12.5567|12.5567	0.56257|0.56257	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|36;36;36	.|Q9NS73-5;Q9NS73-3;Q9NS73	.|.;.;MBIP1_HUMAN	R|A	32;16|36	.|ENSP00000399718:S36A;ENSP00000324444:S36A;ENSP00000352517:S36A	.|ENSP00000324444:S36A	L|S	-|-	2|1	0|0	MBIP|MBIP	35859440|35859440	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.421000|0.421000	0.31385|0.31385	4.264000|4.264000	0.58859|0.58859	2.247000|2.247000	0.74100|0.74100	0.482000|0.482000	0.46254|0.46254	CTC|TCC		0.577	MBIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276685.2	NM_016586		75	93	0	0	0	1	0	75	93					C	36789689	A	C	36789689	3	2	119	1	0	0	0	0	1	0	0	0	9349	304	11	5	964	5	MBIP	14	36789689	Missense_Mutation	SNP	A	TCGA-DJ-A3UN-01A-11D-A22D-08		36789689	70559851	32	2533											
CLEC14A	161198	broad.mit.edu	37	chr14	38724401	38724401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtccttccccagctcgaagCccgtagcacattcgcaggca	9	17	0	0			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr14:38724401C>T	ENST00000342213.2	-	1	1173	c.827G>A	c.(826-828)gGc>gAc	p.G276D		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	276	EGF-like.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CAGCTCGAAGCCCGTAGCACA	0.667																																						ENST00000342213.2																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(826-828)gGc>gAc		C-type lectin domain family 14, member A							58	63	61					14																	38724401		2202	4300	6502	SO:0001583	missense	161198					integral to membrane	sugar binding	g.chr14:38724401C>T		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"C-type lectin domain containing"	19832	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 27"	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.827G>A	14.37:g.38724401C>T	ENSP00000353013:p.Gly276Asp						p.G276D	NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	1	1173	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		276			EGF-like.		Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	37	c.827G>A	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360040	0.41801	.	.	ENSG00000176435	ENST00000342213;ENST00000546356	D	0.97209	-4.29	3.91	3.91	0.45181	Epidermal growth factor-like (1);	0.000000	0.46758	D	0.000278	D	0.96549	0.8874	L	0.34521	1.04	0.37290	D	0.908229	D	0.76494	0.999	D	0.67382	0.951	D	0.96843	0.9619	10	0.59425	D	0.04	-16.3876	11.7127	0.51635	0.0:1.0:0.0:0.0	.	276	Q86T13	CLC14_HUMAN	D	276;41	ENSP00000353013:G276D	ENSP00000353013:G276D	G	-	2	0	CLEC14A	37794152	1.000000	0.71417	0.939000	0.37840	0.055000	0.15305	4.054000	0.57434	2.498000	0.84270	0.591000	0.81541	GGC		0.667	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		4	173	0	0	0	1	0	4	173					T	38724401	C	T	38724401	3	4	119	1	0	0	0	0	1	0	0	0	3499	739	26	2	649	2	CLEC14A	14	38724401	Missense_Mutation	SNP	C	TCGA-DJ-A3UN-01A-11D-A22D-08	1934712	38724401	68625139	33	2534											
AHNAK2	113146	broad.mit.edu	37	chr14	105411479	105411479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgtccacctccacgctggGcagagacacctccacatcag	9	17	1	1			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr14:105411479G>A	ENST00000333244.5	-	7	10428	c.10309C>T	c.(10309-10311)Ccc>Tcc	p.P3437S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3437						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)			TCCACGCTGGGCAGAGACACC	0.622																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(10309-10311)Ccc>Tcc		AHNAK nucleoprotein 2							150	162	158					14																	105411479		1933	4149	6082	SO:0001583	missense	113146					nucleus		g.chr14:105411479G>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.10309C>T	14.37:g.105411479G>A	ENSP00000353114:p.Pro3437Ser					AHNAK2_ENST00000557457.1_Intron	p.P3437S	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	10428	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3437					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.10309C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	15.75	2.926319	0.52759	.	.	ENSG00000185567	ENST00000333244	T	0.03152	4.03	4.46	0.459	0.16678	.	.	.	.	.	T	0.09113	0.0225	H	0.94847	3.59	0.09310	N	1	B	0.28419	0.211	B	0.26094	0.066	T	0.18429	-1.0337	9	0.59425	D	0.04	.	4.2396	0.10642	0.2401:0.0:0.4877:0.2722	.	3437	Q8IVF2	AHNK2_HUMAN	S	3437	ENSP00000353114:P3437S	ENSP00000353114:P3437S	P	-	1	0	AHNAK2	104482524	0.018000	0.18449	0.004000	0.12327	0.032000	0.12392	0.696000	0.25541	0.028000	0.15324	-0.339000	0.08088	CCC		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		6	355	0	0	0	1	0	6	355					A	105411479	G	A	105411479	3	1	119	1	0	0	0	0	1	0	0	0	415	1203	42	2	7082	2	AHNAK2	14	105411479	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08	66687078	105411479	1938061	34	2535											
HBZ	3050	broad.mit.edu	37	chr16	202931	202931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctctgaccaagactgagaGgaccatcattgtgtccatgt	10	10	2	3			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr16:202931G>A	ENST00000252951.2	+	1	246	c.23G>A	c.(22-24)aGg>aAg	p.R8K		NM_005332.2	NP_005323.1	P02008	HBAZ_HUMAN	hemoglobin, zeta	8					erythrocyte maturation (GO:0043249)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	extracellular vesicular exosome (GO:0070062)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)						all_cancers(16;4.28e-07)|all_epithelial(16;2.09e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				AAGACTGAGAGGACCATCATT	0.632											OREG0003684	type=REGULATORY REGION|Gene=HBZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000252951.2																			0											c.(22-24)aGg>aAg		hemoglobin, zeta							120	68	86					16																	202931		2203	4300	6503	SO:0001583	missense	3050					hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr16:202931G>A	M24173	CCDS10397.1	16p13.3	2014-05-19			ENSG00000130656	ENSG00000130656			4835	protein-coding gene	gene with protein product		142310				2649166	Standard	XM_005255287		Approved	HBZ1, HBZ-T1	uc002cft.1	P02008	OTTHUMG00000059928	ENST00000252951.2:c.23G>A	16.37:g.202931G>A	ENSP00000252951:p.Arg8Lys		OREG0003684	type=REGULATORY REGION|Gene=HBZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	586		p.R8K	NM_005332.2	NP_005323.1	P02008	HBAZ_HUMAN			1	246	+		all_cancers(16;4.28e-07)|all_epithelial(16;2.09e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)	8					Q6IBF6	Missense_Mutation	SNP	ENST00000252951.2	37	c.23G>A	CCDS10397.1	.	.	.	.	.	.	.	.	.	.	G	6.373	0.436923	0.12104	.	.	ENSG00000130656	ENST00000252951	D	0.92545	-3.06	4.66	2.41	0.29592	Globin-like (1);Globin, structural domain (1);	0.097389	0.64402	D	0.000002	T	0.70911	0.3278	N	0.01257	-0.925	0.20975	N	0.999817	B	0.06786	0.001	B	0.14023	0.01	T	0.63404	-0.6645	10	0.02654	T	1	-21.3797	6.4225	0.21752	0.3788:0.0:0.6212:0.0	.	8	P02008	HBAZ_HUMAN	K	8	ENSP00000252951:R8K	ENSP00000252951:R8K	R	+	2	0	HBZ	142931	1.000000	0.71417	0.984000	0.44739	0.832000	0.47134	3.809000	0.55606	0.948000	0.37687	0.655000	0.94253	AGG		0.632	HBZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133205.1	NM_005332		3	105	0	0	0	1	0	3	105					A	202931	G	A	202931	3	1	119	1	0	0	0	0	1	0	0	0	6989	1000	35	2	25	2	HBZ	16	202931	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08		202931	90151822	35	2536											
METRN	79006	broad.mit.edu	37	chr16	767142	767142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcatcactgtggtggccGcccgtgtcctccgccagaca	11	16	2	1			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr16:767142G>A	ENST00000568223.2	+	4	812	c.637G>A	c.(637-639)Gcc>Acc	p.A213T	METRN_ENST00000568415.1_Missense_Mutation_p.A80T	NM_024042.2	NP_076947.1	Q9UJH8	METRN_HUMAN	meteorin, glial cell differentiation regulator	213					glial cell differentiation (GO:0010001)|positive regulation of axonogenesis (GO:0050772)	extracellular space (GO:0005615)				skin(1)	1		Hepatocellular(780;0.00335)				TGTGGTGGCCGCCCGTGTCCT	0.662																																						ENST00000568223.2																			0				skin(1)	1						c.(637-639)Gcc>Acc		meteorin, glial cell differentiation regulator							25	33	30					16																	767142		2178	4286	6464	SO:0001583	missense	79006							g.chr16:767142G>A	BC000662	CCDS10422.1	16p13.3	2008-02-05	2004-11-26	2004-12-01	ENSG00000103260	ENSG00000103260			14151	protein-coding gene	gene with protein product		610998	"chromosome 16 open reading frame 23"	C16orf23		15085178	Standard	NM_024042		Approved	MGC2601	uc002cjd.3	Q9UJH8	OTTHUMG00000047851	ENST00000568223.2:c.637G>A	16.37:g.767142G>A	ENSP00000455068:p.Ala213Thr					METRN_ENST00000568415.1_Missense_Mutation_p.A80T	p.A213T	NM_024042.2	NP_076947.1	Q9UJH8	METRN_HUMAN			4	812	+		Hepatocellular(780;0.00335)	213					Q9UJH9	Missense_Mutation	SNP	ENST00000568223.2	37	c.637G>A	CCDS10422.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.562809	0.27915	.	.	ENSG00000103260	ENST00000219542	.	.	.	4.68	-5.8	0.02347	.	0.426263	0.24983	N	0.034060	T	0.19525	0.0469	L	0.27053	0.805	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.04825	-1.0924	9	0.35671	T	0.21	.	4.335	0.11081	0.2599:0.1075:0.5344:0.0983	.	213	Q9UJH8	METRN_HUMAN	T	213	.	ENSP00000219542:A213T	A	+	1	0	METRN	707143	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.148000	0.10219	-0.744000	0.04778	-0.259000	0.10710	GCC		0.662	METRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109074.4	NM_024042		3	33	0	0	0	1	0	3	33					A	767142	G	A	767142	3	1	119	1	0	0	0	0	1	0	0	0	9488	1087	38	1	651	1	METRN	16	767142	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08	564211	767142	89587611	36	2537											
THAP11	57215	broad.mit.edu	37	chr16	67876808	67876808	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcaacagcagcaacaGcagcagcagcagcaacagca	10	14	0	0			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr16:67876808G>A	ENST00000303596.1	+	1	596	c.351G>A	c.(349-351)caG>caA	p.Q117Q	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	117	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		agcagcaacagcagcagcagc	0.667																																						ENST00000303596.1																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8						c.(349-351)caG>caA		THAP domain containing 11							22	27	25					16																	67876808		1916	3809	5725	SO:0001819	synonymous_variant	57215				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding	g.chr16:67876808G>A	AB015338	CCDS10847.1	16q22.1	2013-01-25			ENSG00000168286	ENSG00000168286		"THAP (C2CH-type zinc finger) domain containing"	23194	protein-coding gene	gene with protein product		609119				12575992, 8325628	Standard	NM_020457		Approved	HRIHFB2206, CTG-B45d, CTG-B43a	uc002euo.3	Q96EK4	OTTHUMG00000137546	ENST00000303596.1:c.351G>A	16.37:g.67876808G>A						CENPT_ENST00000562787.1_Intron	p.Q117Q	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)	1	596	+		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	117			Gln-rich.		A4UCT5|A8K002|O94795	Silent	SNP	ENST00000303596.1	37	c.351G>A	CCDS10847.1																																																																																				0.667	THAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268879.1	NM_020457		6	157	0	0	0	1	0	6	157					A	67876808	G	A	67876808	2	1	119	1	0	0	0	0	0	0	0	1	15840	962	34	2		2	THAP11	16	67876808	Silent	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08	67109666	67876808	22477945	37	2538											
YWHAE	7531	broad.mit.edu	37	chr17	1264494	1264494	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaagttctgtcattgcaataTcactagcagctttataagcc	7	9	3	0			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr17:1264494T>A	ENST00000264335.8	-	4	737	c.470A>T	c.(469-471)gAt>gTt	p.D157V	YWHAE_ENST00000575977.1_Intron|YWHAE_ENST00000571732.1_Missense_Mutation_p.D135V|YWHAE_ENST00000573026.1_Intron	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon	157					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cerebral cortex development (GO:0021987)|G2/M transition of mitotic cell cycle (GO:0000086)|hippo signaling (GO:0035329)|hippocampus development (GO:0021766)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|mitotic cell cycle (GO:0000278)|negative regulation of peptidyl-serine dephosphorylation (GO:1902309)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|substantia nigra development (GO:0021762)|viral process (GO:0016032)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|membrane (GO:0016020)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|ion channel binding (GO:0044325)|MHC class II protein complex binding (GO:0023026)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|poly(A) RNA binding (GO:0044822)|potassium channel regulator activity (GO:0015459)|protein heterodimerization activity (GO:0046982)			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		CATTGCAATATCACTAGCAGC	0.463			T	"FAM22a, FAM22B"	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome																															ENST00000264335.8				Dom	yes		17	17p13.3	7531	T	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (14-3-3 epsilon)"	yes	Miller-Dieker lissencephaly syndrome	M	"FAM22a, FAM22B"		edometrial stromal sarcoma		0				kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14						c.(469-471)gAt>gTt		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide							134	127	129					17																	1264494		2203	4300	6503	SO:0001583	missense	7531				apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding	g.chr17:1264494T>A	U54778	CCDS11001.1	17p13.3	2013-12-03	2013-12-03		ENSG00000108953	ENSG00000108953			12851	protein-coding gene	gene with protein product	"14-3-3 epsilon"	605066	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"			9371399	Standard	NM_006761		Approved	FLJ45465	uc002fsj.3	P62258	OTTHUMG00000134316	ENST00000264335.8:c.470A>T	17.37:g.1264494T>A	ENSP00000264335:p.Asp157Val					YWHAE_ENST00000573026.1_Intron|YWHAE_ENST00000571732.1_Missense_Mutation_p.D135V|YWHAE_ENST00000575977.1_Intron	p.D157V	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)	4	737	-			157					B3KY71|D3DTH5|P29360|P42655|Q4VJB6|Q53XZ5|Q63631|Q7M4R4	Missense_Mutation	SNP	ENST00000264335.8	37	c.470A>T	CCDS11001.1	.	.	.	.	.	.	.	.	.	.	T	17.88	3.497064	0.64186	.	.	ENSG00000108953	ENST00000264335;ENST00000414131	T	0.48201	0.82	5.39	5.39	0.77823	14-3-3 domain (4);	0.000000	0.85682	U	0.000000	T	0.55955	0.1953	M	0.86864	2.845	0.80722	D	1	B	0.06786	0.001	B	0.20384	0.029	T	0.60010	-0.7346	10	0.87932	D	0	0.0763	13.4443	0.61131	0.0:0.0:0.0:1.0	.	157	P62258	1433E_HUMAN	V	157;135	ENSP00000264335:D157V	ENSP00000264335:D157V	D	-	2	0	YWHAE	1211244	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.992000	0.88273	2.057000	0.61298	0.529000	0.55759	GAT		0.463	YWHAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259354.3	NM_006761		10	256	0	0	0	1	0	10	256					A	1264494	T	A	1264494	3	1	119	1	0	0	0	0	1	0	0	0	17499	1435	50	5	309	5	YWHAE	17	1264494	Missense_Mutation	SNP	T	TCGA-DJ-A3UN-01A-11D-A22D-08		1264494	79930716	38	2539											
SUPT6H	6830	broad.mit.edu	37	chr17	27024968	27024968	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actaagaaggagaagcccacCttcatcccttatttcatctg	6	12	3	2			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr17:27024968C>T	ENST00000314616.6	+	32	4651	c.4368C>T	c.(4366-4368)acC>acT	p.T1456T	SUPT6H_ENST00000347486.4_Silent_p.T1456T	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1456					chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AGAAGCCCACCTTCATCCCTT	0.522																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4366-4368)acC>acT		suppressor of Ty 6 homolog (S. cerevisiae)							100	95	97					17																	27024968		2203	4300	6503	SO:0001819	synonymous_variant	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27024968C>T	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.4368C>T	17.37:g.27024968C>T						SUPT6H_ENST00000347486.4_Silent_p.T1456T	p.T1456T	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			32	4651	+	Lung NSC(42;0.00431)		1456					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP	ENST00000314616.6	37	c.4368C>T	CCDS32596.1																																																																																				0.522	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		27	60	0	0	0	1	0	27	60					T	27024968	C	T	27024968	2	4	119	1	0	0	0	0	0	0	0	1	15397	668	24	2		2	SUPT6H	17	27024968	Silent	SNP	C	TCGA-DJ-A3UN-01A-11D-A22D-08	25760474	27024968	54170242	39	2540											
TK1	7083	broad.mit.edu	37	chr17	76178724	76178724	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccagggcctcctgggccacGtctcggagcaggcaggcggg	17	15	1	0			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr17:76178724G>T	ENST00000301634.7	-	4	487	c.249C>A	c.(247-249)gaC>gaA	p.D83E	TK1_ENST00000590430.1_Intron|TK1_ENST00000405273.1_Missense_Mutation_p.D83E|TK1_ENST00000590862.1_Missense_Mutation_p.D83E|TK1_ENST00000588734.1_Missense_Mutation_p.D83E	NM_003258.4	NP_003249.3	P04183	KITH_HUMAN	thymidine kinase 1, soluble	83					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|digestive tract development (GO:0048565)|DNA replication (GO:0006260)|fetal process involved in parturition (GO:0060138)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to copper ion (GO:0046688)|response to cortisol (GO:0051414)|response to nutrient levels (GO:0031667)|response to toxic substance (GO:0009636)|skeletal muscle cell proliferation (GO:0014856)|small molecule metabolic process (GO:0044281)|thymidine metabolic process (GO:0046104)	cytosol (GO:0005829)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|nucleoside kinase activity (GO:0019206)|thymidine kinase activity (GO:0004797)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|urinary_tract(2)	4			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23)		Trifluridine(DB00432)|Zidovudine(DB00495)	CCTGGGCCACGTCTCGGAGCA	0.632																																						ENST00000588734.1																			0				endometrium(1)|large_intestine(1)|urinary_tract(2)	4						c.(247-249)gaC>gaA		thymidine kinase 1, soluble							54	35	41					17																	76178724		2202	4298	6500	SO:0001583	missense	7083				DNA replication|protein homotetramerization|pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|thymidine kinase activity|zinc ion binding	g.chr17:76178724G>T		CCDS11754.1	17q23.2-q25.3	2012-10-02			ENSG00000167900	ENSG00000167900	2.7.1.21		11830	protein-coding gene	gene with protein product		188300					Standard	NM_003258		Approved		uc002juw.2	P04183	OTTHUMG00000150674	ENST00000301634.7:c.249C>A	17.37:g.76178724G>T	ENSP00000301634:p.Asp83Glu					TK1_ENST00000590430.1_Intron|TK1_ENST00000405273.1_Missense_Mutation_p.D83E|TK1_ENST00000301634.7_Missense_Mutation_p.D83E|TK1_ENST00000590862.1_Missense_Mutation_p.D83E	p.D83E			P04183	KITH_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23)		4	487	-			83					B2RC58|Q969V0|Q9UMG9	Missense_Mutation	SNP	ENST00000301634.7	37	c.249C>A	CCDS11754.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.318349	0.23994	.	.	ENSG00000167900	ENST00000301634;ENST00000405273	.	.	.	5.48	-6.15	0.02105	.	0.047074	0.85682	D	0.000000	T	0.34600	0.0903	N	0.11724	0.165	0.41698	D	0.989387	B;B	0.11235	0.004;0.002	B;B	0.18561	0.022;0.022	T	0.01639	-1.1306	9	0.39692	T	0.17	-25.073	16.5321	0.84364	0.6796:0.0:0.3204:0.0	.	83;83	B5BU32;P04183	.;KITH_HUMAN	E	83	.	ENSP00000301634:D83E	D	-	3	2	TK1	73690319	0.003000	0.15002	0.019000	0.16419	0.845000	0.48019	-1.049000	0.03514	-1.031000	0.03308	-0.259000	0.10710	GAC		0.632	TK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319577.1	NM_003258		11	10	1	0	5.50884e-06	1	5.65772e-06	11	10					T	76178724	G	T	76178724	3	4	119	1	0	0	0	0	1	0	0	0	15929	1136	40	4	471	4	TK1	17	76178724	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08	49153756	76178724	5016486	40	2541											
SLC26A11	284129	broad.mit.edu	37	chr17	78201660	78201660	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggtctgcatgctgctgctgCtggtgctgaagctgatgcgg	16	9	1	2			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr17:78201660C>G	ENST00000361193.3	+	7	917	c.637C>G	c.(637-639)Ctg>Gtg	p.L213V	SLC26A11_ENST00000546047.2_Missense_Mutation_p.L213V|SLC26A11_ENST00000572725.1_Missense_Mutation_p.L213V|SLC26A11_ENST00000411502.3_Missense_Mutation_p.L213V	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3			solute carrier family 26 (anion exchanger), member 11											central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCTGCTGCTGCTGGTGCTGAA	0.682																																						ENST00000361193.3																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28						c.(637-639)Ctg>Gtg		solute carrier family 26 (anion exchanger), member 11							97	79	85					17																	78201660		2203	4300	6503	SO:0001583	missense	284129					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity	g.chr17:78201660C>G		CCDS11771.2	17q25	2013-07-18	2013-07-18		ENSG00000181045	ENSG00000181045		"Solute carriers"	14471	protein-coding gene	gene with protein product		610117	"solute carrier family 26, member 11"				Standard	NM_001166347		Approved		uc010dhv.2	Q86WA9	OTTHUMG00000133419	ENST00000361193.3:c.637C>G	17.37:g.78201660C>G	ENSP00000355384:p.Leu213Val					SLC26A11_ENST00000572725.1_Missense_Mutation_p.L213V|SLC26A11_ENST00000411502.3_Missense_Mutation_p.L213V|SLC26A11_ENST00000546047.2_Missense_Mutation_p.L213V	p.L213V	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		7	917	+	all_neural(118;0.0538)		213						Missense_Mutation	SNP	ENST00000361193.3	37	c.637C>G	CCDS11771.2	.	.	.	.	.	.	.	.	.	.	C	11.67	1.709174	0.30322	.	.	ENSG00000181045	ENST00000411502;ENST00000546047;ENST00000361193	D;D;D	0.93712	-3.27;-3.27;-3.27	4.52	2.46	0.29980	Sulphate transporter (1);	0.469026	0.21816	N	0.068696	D	0.86497	0.5947	N	0.25825	0.765	0.36688	D	0.879447	B	0.13594	0.008	B	0.18561	0.022	T	0.79614	-0.1730	10	0.39692	T	0.17	-11.579	7.8613	0.29511	0.0:0.5225:0.3851:0.0924	.	213	Q86WA9	S2611_HUMAN	V	213	ENSP00000403998:L213V;ENSP00000440724:L213V;ENSP00000355384:L213V	ENSP00000355384:L213V	L	+	1	2	SLC26A11	75816255	0.824000	0.29247	0.999000	0.59377	0.992000	0.81027	0.799000	0.27028	0.327000	0.23409	0.491000	0.48974	CTG		0.682	SLC26A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257281.1			3	237	0	0	0	1	0	3	237					G	78201660	C	G	78201660	3	3	119	1	0	0	0	0	1	0	0	0	14516	796	28	4	655	4	SLC26A11	17	78201660	Missense_Mutation	SNP	C	TCGA-DJ-A3UN-01A-11D-A22D-08	2022936	78201660	2993550	41	2542											
ZNF737	100129842	broad.mit.edu	37	chr19	20727601	20727601	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtatgaattctcttatgtgCagtaaggtgtgaggacgagt	13	4	1	2			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr19:20727601C>T	ENST00000427401.4	-	4	1502	c.1408G>A	c.(1408-1410)Gca>Aca	p.A470T		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	470					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(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						CTCTTATGTGCAGTAAGGTGT	0.403																																						ENST00000427401.4																			0				breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(1408-1410)Gca>Aca		zinc finger protein 737							79	79	79					19																	20727601		692	1591	2283	SO:0001583	missense	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20727601C>T	BC015765	CCDS54238.1	19p12	2013-01-08						"Zinc fingers, C2H2-type", "-"	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.1408G>A	19.37:g.20727601C>T	ENSP00000395733:p.Ala470Thr						p.A470T	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN			4	1502	-			470					C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	c.1408G>A	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	N	0.006	-2.114880	0.00349	.	.	ENSG00000237440	ENST00000427401	T	0.18174	2.23	0.867	-1.73	0.08081	.	.	.	.	.	T	0.07007	0.0178	N	0.13043	0.29	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.41324	-0.9515	9	0.13470	T	0.59	.	3.0384	0.06130	0.0:0.2918:0.4326:0.2756	.	470	C9JHM3	.	T	470	ENSP00000395733:A470T	ENSP00000395733:A470T	A	-	1	0	ZNF737	20519441	0.000000	0.05858	0.019000	0.16419	0.019000	0.09904	-11.426000	0.00003	-0.926000	0.03770	-0.923000	0.02734	GCA		0.403	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		3	49	0	0	0	1	0	3	49					T	20727601	C	T	20727601	3	4	119	1	0	0	0	0	1	0	0	0	18123	710	25	2	206	2	ZNF737	19	20727601	Missense_Mutation	SNP	C	TCGA-DJ-A3UN-01A-11D-A22D-08		20727601	38401382	42	2543											
GRIN2D	2906	broad.mit.edu	37	chr19	48917682	48917682	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caagtacccgctgtggtcccGctatggtcgcttcctgcagc	11	15	0	0			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr19:48917682G>C	ENST00000263269.3	+	5	1341	c.1253G>C	c.(1252-1254)cGc>cCc	p.R418P		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	418					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTGTGGTCCCGCTATGGTCGC	0.627																																						ENST00000263269.3																			0				autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37						c.(1252-1254)cGc>cCc		glutamate receptor, ionotropic, N-methyl D-aspartate 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						39	35	36					19																	48917682		2203	4300	6503	SO:0001583	missense	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48917682G>C	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4588	protein-coding gene	gene with protein product	"N-methyl-d-aspartate receptor subunit 2D"	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1253G>C	19.37:g.48917682G>C	ENSP00000263269:p.Arg418Pro						p.R418P	NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	5	1341	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	418						Missense_Mutation	SNP	ENST00000263269.3	37	c.1253G>C	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498361	0.85069	.	.	ENSG00000105464	ENST00000263269	T	0.07908	3.15	4.31	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.32194	0.0821	M	0.82823	2.61	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.16778	-1.0391	10	0.72032	D	0.01	.	16.0927	0.81102	0.0:0.0:1.0:0.0	.	418	O15399	NMDE4_HUMAN	P	418	ENSP00000263269:R418P	ENSP00000263269:R418P	R	+	2	0	GRIN2D	53609494	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.640000	0.98453	2.413000	0.81919	0.561000	0.74099	CGC		0.627	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			6	19	0	0	0	1	0	6	19					C	48917682	G	C	48917682	3	2	119	1	0	0	0	0	1	0	0	0	6782	1087	38	4	1267	4	GRIN2D	19	48917682	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08	28190081	48917682	10211301	43	2544											
MX2	4600	broad.mit.edu	37	chr21	42748992	42748992	+	Frame_Shift_Del	DEL	G	G	-													ccaaactggcagggggcagaGaaggacgctgctttcctcgc							TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr21:42748992delG	ENST00000330714.3	+	2	343	c.159delG	c.(157-159)gagfs	p.E53fs	MX2_ENST00000543692.1_Frame_Shift_Del_p.E53fs	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	53					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)				AGGGGGCAGAGAAGGACGCTG	0.512																																						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.(157-159)gafs		myxovirus (influenza virus) resistance 2 (mouse)							98	105	103					21																	42748992		2203	4300	6503	SO:0001589	frameshift_variant	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42748992delG		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.159delG	21.37:g.42748992delG	ENSP00000333657:p.Glu53fs					MX2_ENST00000543692.1_Frame_Shift_Del_p.E53fs	p.E53fs	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN			2	343	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	53					B7Z5D3|D3DSI7	Frame_Shift_Del	DEL	ENST00000330714.3	37	c.159delG	CCDS13672.1																																																																																				0.512	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463		85	157						85	157	---	---	---	---	-	42748992	G	-	42748992	7	5	119	1	0	1	0	1	0	0	0	0	9998	933	33	0	161	0	MX2	21	42748992	Frame_Shift_Del	DEL	G	TCGA-DJ-A3UN-01A-11D-A22D-08		42748992	5380903	44	2545											
MAGEB4	4115	broad.mit.edu	37	chrX	30261042	30261042	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accagcaggtgcccaacagtGatcccccacgctatcaattc	7	16	1	1	rs148704670		TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chrX:30261042G>A	ENST00000378982.2	+	1	986	c.790G>A	c.(790-792)Gat>Aat	p.D264N	MAGEB1_ENST00000397550.1_5'Flank|MAGEB1_ENST00000378981.3_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	264	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						GCCCAACAGTGATCCCCCACG	0.502																																						ENST00000378982.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(790-792)Gat>Aat		melanoma antigen family B, 4							70	66	67					X																	30261042		2202	4300	6502	SO:0001583	missense	4115							g.chrX:30261042G>A		CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"melanoma-associated antigen B4", "cancer/testis antigen family 3, member 6"	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.790G>A	X.37:g.30261042G>A	ENSP00000368266:p.Asp264Asn						p.D264N	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN			1	986	+			264			MAGE.		B2R9G0|Q6FHH4|Q8IZ00	Missense_Mutation	SNP	ENST00000378982.2	37	c.790G>A	CCDS14221.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399172	0.42512	.	.	ENSG00000120289	ENST00000378982	T	0.05319	3.46	3.31	-1.83	0.07833	.	0.236971	0.32473	U	0.006042	T	0.12390	0.0301	M	0.62088	1.915	0.09310	N	1	D	0.63880	0.993	D	0.63381	0.914	T	0.09335	-1.0679	10	0.39692	T	0.17	.	4.2094	0.10503	0.4861:0.1803:0.3336:0.0	.	264	O15481	MAGB4_HUMAN	N	264	ENSP00000368266:D264N	ENSP00000368266:D264N	D	+	1	0	MAGEB4	30170963	0.055000	0.20627	0.003000	0.11579	0.018000	0.09664	0.029000	0.13666	-0.643000	0.05473	-0.208000	0.12717	GAT		0.502	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	NM_002367		3	70	0	0	0	1	0	3	70					A	30261042	G	A	30261042	3	1	119	1	0	0	0	0	1	0	0	0	9178	1290	45	2	792	2	MAGEB4	23	30261042	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08		30261042	125009518	45	2546											
GAGE10	643832	broad.mit.edu	37	chrX	49173756	49173756	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaatccagaggaggtgaaaaGgcctgaagaaggtagggaat	15	4	0	4	rs376577624		TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chrX:49173756G>C	ENST00000407599.3	+	4	410	c.317G>C	c.(316-318)aGg>aCg	p.R106T		NM_001098413.2	NP_001091883.2	A6NGK3	GAG10_HUMAN	G antigen 10	106										breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	Ovarian(276;0.236)					GAGGTGAAAAGGCCTGAAGAA	0.473																																						ENST00000407599.3																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4						c.(316-318)aGg>aCg		G antigen 10		C	THR/ARG	1,3834		0,0,1,1632,570	161	163	162		317	-1.4	0.0	X		162	0,6728		0,0,0,2428,1872	no	missense	GAGE10	NM_001098413.2	71	0,0,1,4060,2442	CC,CG,C,GG,G		0.0,0.0261,0.0095	benign	106/117	49173756	1,10562	2203	4300	6503	SO:0001583	missense	643832							g.chrX:49173756G>C			Xp11.23	2010-06-03			ENSG00000215274	ENSG00000215274			30968	protein-coding gene	gene with protein product							Standard	XM_006710256		Approved	OTTHUMG00000024136	uc010nir.1	A6NGK3	OTTHUMG00000024136	ENST00000407599.3:c.317G>C	X.37:g.49173756G>C	ENSP00000385415:p.Arg106Thr						p.R106T	NM_001098413.2	NP_001091883.2	A6NGK3	GAG10_HUMAN			4	410	+	Ovarian(276;0.236)		106						Missense_Mutation	SNP	ENST00000407599.3	37	c.317G>C	CCDS43938.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.006778	0.00043	2.61E-4	0.0	ENSG00000215274	ENST00000407599	T	0.08282	3.11	1.62	-1.35	0.09114	.	.	.	.	.	T	0.02571	0.0078	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44034	-0.9354	9	0.23302	T	0.38	.	3.0101	0.06042	0.0:0.3577:0.2491:0.3932	.	106	A6NGK3	GAG10_HUMAN	T	106	ENSP00000385415:R106T	ENSP00000385415:R106T	R	+	2	0	GAGE10	49060700	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.435000	0.02423	-1.003000	0.03425	-3.704000	0.00023	AGG		0.473	GAGE10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060816.1	NM_001098413		5	391	0	0	0	1	0	5	391					C	49173756	G	C	49173756	3	2	119	1	0	0	0	0	1	0	0	0	6187	1000	35	4	327	4	GAGE10	23	49173756	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08	18912714	49173756	106096804	46	2547											
ETNK2	55224	broad.mit.edu	37	chr1	204115853	204115853	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgggcaggctgccgttggcGtggatagtatgaatctttgc	15	7	1	1	rs139650333		TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr1:204115853G>A	ENST00000367202.4	-	3	708	c.558C>T	c.(556-558)caC>caT	p.H186H	ETNK2_ENST00000367199.2_Intron|ETNK2_ENST00000367198.2_Silent_p.H8H|ETNK2_ENST00000367201.3_Silent_p.H186H	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	186					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|placenta development (GO:0001890)|post-embryonic development (GO:0009791)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)	p.H186H(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			TGCCGTTGGCGTGGATAGTAT	0.498																																						ENST00000367202.4																			1	Substitution - coding silent(1)	p.H186H(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7						c.(556-558)caC>caT		ethanolamine kinase 2		G		1,4405	2.1+/-5.4	0,1,2202	151	129	136		558	-4.5	0.9	1	dbSNP_134	136	0,8600		0,0,4300	no	coding-synonymous	ETNK2	NM_018208.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		186/387	204115853	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55224						ATP binding|choline kinase activity|ethanolamine kinase activity	g.chr1:204115853G>A	AK001623	CCDS1442.2, CCDS73006.1	1q32.1	2008-02-05			ENSG00000143845	ENSG00000143845			25575	protein-coding gene	gene with protein product		609859				12477932	Standard	XM_005245302		Approved	FLJ10761, EKI2	uc001hao.4	Q9NVF9	OTTHUMG00000036061	ENST00000367202.4:c.558C>T	1.37:g.204115853G>A						ETNK2_ENST00000367199.2_Intron|ETNK2_ENST00000367201.3_Silent_p.H186H|ETNK2_ENST00000367198.2_Silent_p.H8H	p.H186H	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		3	708	-	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		186					B7Z7K1|Q5SXX5|Q68CK3|Q96G05	Silent	SNP	ENST00000367202.4	37	c.558C>T	CCDS1442.2																																																																																				0.498	ETNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087893.1	NM_018208		4	114	0	0	0	1	0	4	114					A	204115853	G	A	204115853	2	1	120	1	0	0	0	0	0	0	0	1	5274	1136	40	1		1	ETNK2	1	204115853	Silent	SNP	G	TCGA-DJ-A3UO-01A-11D-A22D-08		204115853	45134768	1	2548											
LRP2	4036	broad.mit.edu	37	chr2	169995788	169995788	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttgggcagagcaggcaaaAgggagccggtccttctatag	15	9	1	1			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr2:169995788A>G	ENST00000263816.3	-	74	13646	c.13361T>C	c.(13360-13362)cTt>cCt	p.L4454P		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4454					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	AGCAGGCAAAAGGGAGCCGGT	0.468																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(13360-13362)cTt>cCt		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						77	81	80					2																	169995788		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:169995788A>G		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.13361T>C	2.37:g.169995788A>G	ENSP00000263816:p.Leu4454Pro						p.L4454P	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	74	13646	-			4454					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.13361T>C	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.447890	0.84101	.	.	ENSG00000081479	ENST00000263816	D	0.90620	-2.7	5.53	5.53	0.82687	.	0.179582	0.50627	D	0.000117	D	0.90549	0.7038	N	0.24115	0.695	0.80722	D	1	D	0.65815	0.995	P	0.62491	0.903	D	0.90092	0.4178	10	0.33940	T	0.23	.	15.6705	0.77270	1.0:0.0:0.0:0.0	.	4454	P98164	LRP2_HUMAN	P	4454	ENSP00000263816:L4454P	ENSP00000263816:L4454P	L	-	2	0	LRP2	169704034	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	8.495000	0.90481	2.106000	0.64143	0.455000	0.32223	CTT		0.468	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		4	90	0	0	0	1	0	4	90					G	169995788	A	G	169995788	3	3	120	1	0	0	0	0	1	0	0	0	8956	72	3	3	630	3	LRP2	2	169995788	Missense_Mutation	SNP	A	TCGA-DJ-A3UO-01A-11D-A22D-08		169995788	73203585	2	2549											
ZNF142	7701	broad.mit.edu	37	chr2	219503377	219503377	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcctcactgtgcttgcgaagGtgggtgcgcagcaggaagcg	17	10	1	0			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr2:219503377G>C	ENST00000449707.1	-	10	5170	c.4749C>G	c.(4747-4749)caC>caG	p.H1583Q	ZNF142_ENST00000411696.2_Missense_Mutation_p.H1583Q	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1583					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(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCTTGCGAAGGTGGGTGCGCA	0.622																																					Colon(170;867 1942 8995 15834 18053)	ENST00000411696.2																			0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(4747-4749)caC>caG		zinc finger protein 142							57	63	61					2																	219503377		2181	4274	6455	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219503377G>C	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"Zinc fingers, C2H2-type"	12927	protein-coding gene	gene with protein product		604083	"zinc finger protein 142 (clone pHZ-49)"				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.4749C>G	2.37:g.219503377G>C	ENSP00000408643:p.His1583Gln					ZNF142_ENST00000449707.1_Missense_Mutation_p.H1583Q	p.H1583Q			P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	9	5528	-		Renal(207;0.0474)	1583					Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.4749C>G	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.678190	0.68042	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	D;D	0.99974	-10.2;-10.2	6.01	3.17	0.36434	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.99975	0.9992	H	0.96365	3.81	0.43559	D	0.99587	P;P	0.52316	0.952;0.952	P;P	0.57911	0.816;0.829	D	0.95485	0.8564	10	0.87932	D	0	-35.5354	11.7252	0.51706	0.1707:0.0:0.8293:0.0	.	1583;1420	P52746;A8MWU9	ZN142_HUMAN;.	Q	1583	ENSP00000408643:H1583Q;ENSP00000398798:H1583Q	ENSP00000398798:H1583Q	H	-	3	2	ZNF142	219211621	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.738000	0.55067	0.397000	0.25310	-0.320000	0.08662	CAC		0.622	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		28	61	0	0	0	1	0	28	61					C	219503377	G	C	219503377	3	2	120	1	0	0	0	0	1	0	0	0	17728	1252	44	4	318	4	ZNF142	2	219503377	Missense_Mutation	SNP	G	TCGA-DJ-A3UO-01A-11D-A22D-08	49507589	219503377	23695996	3	2550											
ECEL1	9427	broad.mit.edu	37	chr2	233348844	233348844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgccctccatctcctgtGccagctcgtgcagtgcctca	9	18	2	0			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr2:233348844G>A	ENST00000304546.1	-	7	1484	c.1274C>T	c.(1273-1275)gCa>gTa	p.A425V	ECEL1_ENST00000409941.1_Missense_Mutation_p.A425V	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	425					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CATCTCCTGTGCCAGCTCGTG	0.647																																						ENST00000304546.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1273-1275)gCa>gTa		endothelin converting enzyme-like 1							50	51	51					2																	233348844		2203	4300	6503	SO:0001583	missense	9427				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity	g.chr2:233348844G>A	Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"damage induced neuronal endopeptidase"	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.1274C>T	2.37:g.233348844G>A	ENSP00000302051:p.Ala425Val					ECEL1_ENST00000409941.1_Missense_Mutation_p.A425V	p.A425V	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)	7	1484	-		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	425					Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	SNP	ENST00000304546.1	37	c.1274C>T	CCDS2493.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.713077	0.30413	.	.	ENSG00000171551	ENST00000304546;ENST00000409941	T;T	0.73789	-0.78;-0.78	5.33	5.33	0.75918	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.057395	0.64402	D	0.000001	T	0.66616	0.2807	N	0.19112	0.55	0.51482	D	0.999925	B;B	0.30542	0.127;0.284	B;B	0.36719	0.047;0.231	T	0.63386	-0.6649	10	0.30854	T	0.27	-31.7905	19.0163	0.92896	0.0:0.0:1.0:0.0	.	425;425	O95672-2;O95672	.;ECEL1_HUMAN	V	425	ENSP00000302051:A425V;ENSP00000386333:A425V	ENSP00000302051:A425V	A	-	2	0	ECEL1	233057088	1.000000	0.71417	0.951000	0.38953	0.108000	0.19459	9.869000	0.99810	2.503000	0.84419	0.557000	0.71058	GCA		0.647	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	NM_004826		42	67	0	0	0	1	0	42	67					A	233348844	G	A	233348844	3	1	120	1	0	0	0	0	1	0	0	0	4891	1319	46	2	1101	2	ECEL1	2	233348844	Missense_Mutation	SNP	G	TCGA-DJ-A3UO-01A-11D-A22D-08	13845467	233348844	9850529	4	2551											
UBA3	9039	broad.mit.edu	37	chr3	69124604	69124605	+	Frame_Shift_Ins	INS	-	-	TAAG													tttttcaggagctcacatccINStaagccgccagctccaatga					rs71302167		TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr3:69124604_69124605insTAAG	ENST00000361055.4	-	4	294_295	c.240_241insCTTA	c.(238-243)ttaggafs	p.G81fs	UBA3_ENST00000415609.2_Intron|UBA3_ENST00000349511.4_Frame_Shift_Ins_p.G67fs|UBA3_ENST00000540295.1_Intron	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	81					cellular protein modification process (GO:0006464)|endomitotic cell cycle (GO:0007113)|protein neddylation (GO:0045116)|proteolysis (GO:0006508)|regulation of cell cycle (GO:0051726)	cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|NEDD8 activating enzyme activity (GO:0019781)|protein heterodimerization activity (GO:0046982)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		AGCTCACATCCTAAGCCGCCAG	0.342																																						ENST00000361055.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(238-243)ttgatgfs		ubiquitin-like modifier activating enzyme 3																																				SO:0001589	frameshift_variant	9039				protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity	g.chr3:69124604_69124605insTAAG	AB012190	CCDS2909.1, CCDS2910.1	3p14.1	2013-09-26	2007-11-30	2007-11-30	ENSG00000144744	ENSG00000144744		"Ubiquitin-like modifier activating enzymes"	12470	protein-coding gene	gene with protein product	"NEDD8-activating enzyme E1 catalytic subunit", "NEDD8-activating enzyme E1 subunit 2"	603172	"ubiquitin-activating enzyme E1C (homologous to yeast UBA3)", "ubiquitin-activating enzyme E1C (UBA3 homolog, yeast)"	UBE1C		9694792	Standard	NM_003968		Approved	hUba3, NAE2	uc003dno.3	Q8TBC4	OTTHUMG00000154325	ENST00000361055.4:c.237_240dupCTTA	3.37:g.69124605_69124608dupTAAG	ENSP00000354340:p.Gly81fs					UBA3_ENST00000415609.2_Intron|UBA3_ENST00000540295.1_Intron|UBA3_ENST00000349511.4_Frame_Shift_Ins_p.LM66fs	p.LM80fs	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)	4	294_295	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	80					A6NLB5|A8K027|O76088|Q9NTU3	Frame_Shift_Ins	INS	ENST00000361055.4	37	c.240_241insCTTA	CCDS2909.1																																																																																				0.342	UBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334839.1	NM_198195		8	32						8	32	---	---	---	---	TAAG	69124605	-	TAAG	69124604	7	5	120	1	0	1	1	0	0	0	0	0	16826	690	24	0	1210	0	UBA3	3	69124604	Frame_Shift_Ins	INS	-	TCGA-DJ-A3UO-01A-11D-A22D-08		69124604	128897826	5	2552											
GPRIN3	285513	broad.mit.edu	37	chr4	90169984	90169984	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtatgctgggcattactggaGaccaaattgattgatgaggt	13	5	0	4	rs370102657		TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr4:90169984G>T	ENST00000609438.1	-	2	1796	c.1278C>A	c.(1276-1278)gtC>gtA	p.V426V	GPRIN3_ENST00000333209.4_Silent_p.V426V	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	426										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CATTACTGGAGACCAAATTGA	0.468																																						ENST00000333209.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36						c.(1276-1278)gtC>gtA		GPRIN family member 3							102	105	104					4																	90169984		2203	4300	6503	SO:0001819	synonymous_variant	285513							g.chr4:90169984G>T	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.1278C>A	4.37:g.90169984G>T							p.V426V	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	1796	-		Hepatocellular(203;0.114)	426					Q8IVE4	Silent	SNP	ENST00000609438.1	37	c.1278C>A	CCDS34030.1																																																																																				0.468	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		4	167	1	0	0.00909568	1	0.00953937	4	167					T	90169984	G	T	90169984	2	4	120	1	0	0	0	0	0	0	0	1	6731	929	33	4		4	GPRIN3	4	90169984	Silent	SNP	G	TCGA-DJ-A3UO-01A-11D-A22D-08		90169984	100984292	6	2553											
ENPP6	133121	broad.mit.edu	37	chr4	185012454	185012454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatccgttgttgggcagcGgggtgatgcccaccacattg	15	10	0	1			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr4:185012454G>A	ENST00000296741.2	-	8	1340	c.1199C>T	c.(1198-1200)cCg>cTg	p.P400L		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	400					choline metabolic process (GO:0019695)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glycerophosphocholine cholinephosphodiesterase activity (GO:0047390)|glycerophosphodiester phosphodiesterase activity (GO:0008889)|phosphoric diester hydrolase activity (GO:0008081)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		GTTGGGCAGCGGGGTGATGCC	0.587																																						ENST00000296741.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15						c.(1198-1200)cCg>cTg		ectonucleotide pyrophosphatase/phosphodiesterase 6							100	95	97					4																	185012454		2203	4300	6503	SO:0001583	missense	133121				lipid catabolic process	extracellular region|integral to membrane|plasma membrane		g.chr4:185012454G>A	AK057370	CCDS3834.1	4q35.1	2008-02-05			ENSG00000164303	ENSG00000164303			23409	protein-coding gene	gene with protein product							Standard	NM_153343		Approved	MGC33971	uc003iwc.3	Q6UWR7	OTTHUMG00000160617	ENST00000296741.2:c.1199C>T	4.37:g.185012454G>A	ENSP00000296741:p.Pro400Leu						p.P400L	NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)	8	1340	-		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	400					Q4W5Q1|Q96M57	Missense_Mutation	SNP	ENST00000296741.2	37	c.1199C>T	CCDS3834.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850704	0.71719	.	.	ENSG00000164303	ENST00000296741	T	0.80033	-1.33	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.92652	0.7665	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.93290	0.6667	10	0.87932	D	0	-31.513	20.2825	0.98528	0.0:0.0:1.0:0.0	.	400	Q6UWR7	ENPP6_HUMAN	L	400	ENSP00000296741:P400L	ENSP00000296741:P400L	P	-	2	0	ENPP6	185249448	1.000000	0.71417	0.613000	0.29037	0.104000	0.19210	9.144000	0.94629	2.894000	0.99253	0.591000	0.81541	CCG		0.587	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361428.1	NM_153343		61	130	0	0	0	1	0	61	130					A	185012454	G	A	185012454	3	1	120	1	0	0	0	0	1	0	0	0	5134	1116	39	1	127	1	ENPP6	4	185012454	Missense_Mutation	SNP	G	TCGA-DJ-A3UO-01A-11D-A22D-08	94842470	185012454	6141822	7	2554											
THBS4	7060	broad.mit.edu	37	chr5	79372774	79372776	+	In_Frame_Del	DEL	TGA	TGA	-													gatggaattggtgacgagtgTgatgatgatgatgacaatga							TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr5:79372774_79372776delTGA	ENST00000350881.2	+	16	2179_2181	c.1989_1991delTGA	c.(1987-1992)tgtgat>tgt	p.D668del	THBS4_ENST00000511733.1_In_Frame_Del_p.D577del|CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	668					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GTGACGAGTGTGATGATGATGAT	0.562																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(1987-1992)tgt>tg		thrombospondin 4																																				SO:0001651	inframe_deletion	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79372774_79372776delTGA		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.1989_1991delTGA	5.37:g.79372783_79372785delTGA	ENSP00000339730:p.Asp668del					THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del|CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA	p.CD663del	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	16	2179_2181	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	663					B2R909|Q86TG2	In_Frame_Del	DEL	ENST00000350881.2	37	c.1989_1991delTGA	CCDS4049.1																																																																																				0.562	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			8	711						8	711	---	---	---	---	-	79372776	TGA	-	79372774	7	5	120	1	0	1	0	1	0	0	0	0	15853	1702	59	0	2051	0	THBS4	5	79372774	In_Frame_Del	DEL	TGA	TCGA-DJ-A3UO-01A-11D-A22D-08		79372774	101542486	8	2555											
TAPBP	6892	broad.mit.edu	37	chr6	33272093	33272093	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgctacctccagggtgacCtcagcgctgcgccccgaggc	12	18	1	1			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr6:33272093C>T	ENST00000489157.1	-	4	1142	c.930G>A	c.(928-930)gaG>gaA	p.E310E	TAPBP_ENST00000434618.2_Silent_p.E397E|TAPBP_ENST00000475304.1_Silent_p.E415E|TAPBP_ENST00000456592.2_Silent_p.E397E|TAPBP_ENST00000426633.2_Silent_p.E397E			O15533	TPSN_HUMAN	TAP binding protein (tapasin)	397	Ig-like C1-type.				amide transport (GO:0042886)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|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)|immune response (GO:0006955)|peptide antigen stabilization (GO:0050823)|peptide transport (GO:0015833)|protein complex assembly (GO:0006461)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|MHC class I peptide loading complex (GO:0042824)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)|peptide antigen-transporting ATPase activity (GO:0015433)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)|unfolded protein binding (GO:0051082)			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						CCAGGGTGACCTCAGCGCTGC	0.642																																						ENST00000434618.2																			0				endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						c.(1189-1191)gaG>gaA		TAP binding protein (tapasin)							49	51	50					6																	33272093		2203	4300	6503	SO:0001819	synonymous_variant	6892				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding	g.chr6:33272093C>T	Y13582	CCDS34426.1, CCDS34427.1, CCDS34428.1, CCDS34427.2, CCDS34428.2	6p21.3	2014-09-17			ENSG00000231925	ENSG00000231925		"Immunoglobulin superfamily / C1-set domain containing"	11566	protein-coding gene	gene with protein product		601962				9238042	Standard	NM_003190		Approved	TAPA	uc003odz.3	O15533	OTTHUMG00000031090	ENST00000489157.1:c.930G>A	6.37:g.33272093C>T						TAPBP_ENST00000426633.2_Silent_p.E397E|TAPBP_ENST00000475304.1_Silent_p.E415E|TAPBP_ENST00000489157.1_Silent_p.E310E|TAPBP_ENST00000456592.2_Silent_p.E397E	p.E397E	NM_003190.4|NM_172209.2	NP_003181.3|NP_757346.2	O15533	TPSN_HUMAN			5	1536	-			397			Ig-like C1-type.		A2AB91|A2ABC0|B0V003|B0V0A6|B2ZUA4|E9PGM2|O15210|O15272|Q5STJ8|Q5STK6|Q5STQ5|Q5STQ6|Q66K65|Q96KK7|Q9HAN8|Q9UEE0|Q9UEE4|Q9UIZ6|Q9Y6K2	Silent	SNP	ENST00000489157.1	37	c.1191G>A	CCDS34427.2	.	.	.	.	.	.	.	.	.	.	C	5.711	0.315690	0.10789	.	.	ENSG00000231925	ENST00000458089	.	.	.	5.57	-0.785	0.10950	.	.	.	.	.	T	0.19644	0.0472	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.32798	-0.9893	5	0.87932	D	0	-7.2454	5.2721	0.15630	0.0:0.4141:0.1419:0.444	.	.	.	.	K	152	.	ENSP00000406838:R152K	R	-	2	0	TAPBP	33380071	0.006000	0.16342	0.012000	0.15200	0.924000	0.55760	-0.264000	0.08658	-0.512000	0.06505	0.549000	0.68633	AGG		0.642	TAPBP-006	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276425.2			52	88	0	0	0	1	0	52	88					T	33272093	C	T	33272093	2	4	120	1	0	0	0	0	0	0	0	1	15549	680	24	2		2	TAPBP	6	33272093	Silent	SNP	C	TCGA-DJ-A3UO-01A-11D-A22D-08		33272093	137842974	9	2556											
SLC22A16	85413	broad.mit.edu	37	chr6	110746110	110746110	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagaatccctgggggtaatcGcttccgttttttccagccca	9	13	0	1			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr6:110746110G>C	ENST00000368919.3	-	8	1766	c.1700C>G	c.(1699-1701)gCg>gGg	p.A567G	SLC22A16_ENST00000330550.4_Missense_Mutation_p.A533G	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	567					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	GGGGGTAATCGCTTCCGTTTT	0.423																																						ENST00000368919.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(1699-1701)gCg>gGg		solute carrier family 22 (organic cation/carnitine transporter), member 16							149	140	143					6																	110746110		2203	4300	6503	SO:0001583	missense	85413				acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	g.chr6:110746110G>C		CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"Solute carriers"	20302	protein-coding gene	gene with protein product		608276	"solute carrier family 22 (organic cation transporter), member 16"			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.1700C>G	6.37:g.110746110G>C	ENSP00000357915:p.Ala567Gly					SLC22A16_ENST00000330550.4_Missense_Mutation_p.A533G	p.A567G	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	8	1766	-		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)	567					O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Missense_Mutation	SNP	ENST00000368919.3	37	c.1700C>G	CCDS5084.1	.	.	.	.	.	.	.	.	.	.	G	8.337	0.827903	0.16749	.	.	ENSG00000004809	ENST00000368919;ENST00000330550	T;T	0.69040	-0.16;-0.37	4.96	-0.224	0.13115	.	6.532570	0.00166	N	0.000000	T	0.26774	0.0655	N	0.08118	0	0.09310	N	1	P;P	0.45768	0.789;0.866	B;B	0.43331	0.237;0.416	T	0.12553	-1.0543	10	0.23302	T	0.38	.	7.7078	0.28661	0.6332:0.0:0.3668:0.0	.	567;533	Q86VW1;Q86VW1-2	S22AG_HUMAN;.	G	567;533	ENSP00000357915:A567G;ENSP00000328583:A533G	ENSP00000328583:A533G	A	-	2	0	SLC22A16	110852803	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.565000	0.23578	-0.206000	0.10203	-0.229000	0.12294	GCG		0.423	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		78	113	0	0	0	1	0	78	113					C	110746110	G	C	110746110	3	2	120	1	0	0	0	0	1	0	0	0	14447	1087	38	4	37	4	SLC22A16	6	110746110	Missense_Mutation	SNP	G	TCGA-DJ-A3UO-01A-11D-A22D-08	77474017	110746110	60368957	10	2557											
SAMD5	389432	broad.mit.edu	37	chr6	147830172	147830172	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctggaggtgtgcaagcagatCggggacccggacctggatgc	17	10	0	1	rs373282999	byFrequency	TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr6:147830172C>A	ENST00000367474.1	+	1	110	c.108C>A	c.(106-108)atC>atA	p.I36I		NM_001030060.2	NP_001025231.1	Q5TGI4	SAMD5_HUMAN	sterile alpha motif domain containing 5	36	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.												Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;9.55e-10)|GBM - Glioblastoma multiforme(68;0.112)		GCAAGCAGATCGGGGACCCGG	0.667													C|||	4	0.000798722	0	0	5008	,	,		7928	0		0	False		,,,				2504	0.0041					ENST00000367474.1																			0											c.(106-108)atC>atA		sterile alpha motif domain containing 5							42	40	41					6																	147830172		2203	4300	6503	SO:0001819	synonymous_variant	389432							g.chr6:147830172C>A	AL354880	CCDS34548.1	6q24.3	2013-01-10			ENSG00000203727	ENSG00000203727		"Sterile alpha motif (SAM) domain containing"	21180	protein-coding gene	gene with protein product							Standard	NM_001030060		Approved	dJ875H10.1	uc003qmc.2	Q5TGI4	OTTHUMG00000015767	ENST00000367474.1:c.108C>A	6.37:g.147830172C>A							p.I36I	NM_001030060.2	NP_001025231.1	Q5TGI4	SAMD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.55e-10)|GBM - Glioblastoma multiforme(68;0.112)	1	110	+		Ovarian(120;0.0907)	36			SAM.			Silent	SNP	ENST00000367474.1	37	c.108C>A	CCDS34548.1																																																																																				0.667	SAMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042610.1	NM_001030060		11	70	1	0	0.00136819	1	0.00150852	11	70					A	147830172	C	A	147830172	2	1	120	1	0	0	0	0	0	0	0	1	13823	874	31	4		4	SAMD5	6	147830172	Silent	SNP	C	TCGA-DJ-A3UO-01A-11D-A22D-08	37084062	147830172	23284895	11	2558											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		27	43	0	0	0	1	0	27	43					T	140453136	A	T	140453136	3	4	120	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3UO-01A-11D-A22D-08		140453136	18685527	12	2559											
TRPM6	140803	broad.mit.edu	37	chr9	77390913	77390913	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgggggcagccagggcttctCgtggtaggtcatgatgtagc	17	8	2	1	rs114160749	byFrequency	TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr9:77390913C>A	ENST00000360774.1	-	24	3526	c.3289G>T	c.(3289-3291)Gag>Tag	p.E1097*	TRPM6_ENST00000361255.3_Nonsense_Mutation_p.E1092*|TRPM6_ENST00000449912.2_Nonsense_Mutation_p.E1092*|TRPM6_ENST00000451710.3_Nonsense_Mutation_p.E1097*|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.E1097*|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1097					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.E1097K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CAGGGCTTCTCGTGGTAGGTC	0.522																																						ENST00000451710.3																			1	Substitution - Missense(1)	p.E1097K(1)	large_intestine(1)	NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(3289-3291)Gag>Tag		transient receptor potential cation channel, subfamily M, member 6							111	120	117					9																	77390913		2203	4300	6503	SO:0001587	stop_gained	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77390913C>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.3289G>T	9.37:g.77390913C>A	ENSP00000354006:p.Glu1097*					TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Nonsense_Mutation_p.E1092*|TRPM6_ENST00000449912.2_Nonsense_Mutation_p.E1092*|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.E1097*|TRPM6_ENST00000360774.1_Nonsense_Mutation_p.E1097*	p.E1097*			Q9BX84	TRPM6_HUMAN			24	3526	-			1097					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Nonsense_Mutation	SNP	ENST00000360774.1	37	c.3289G>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	40	8.310790	0.98754	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	.	.	.	5.76	1.8	0.24995	.	0.362157	0.34555	N	0.003872	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	8.3783	0.32455	0.0:0.6201:0.2475:0.1324	.	.	.	.	X	1097;1097;1092;1092;1097;760;760	.	ENSP00000309693:E760X	E	-	1	0	TRPM6	76580733	0.320000	0.24616	0.196000	0.23383	0.589000	0.36550	0.956000	0.29202	0.071000	0.16664	0.591000	0.81541	GAG		0.522	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		3	162	1	0	0.115264	1	0.118008	3	162					A	77390913	C	A	77390913	4	1	120	1	0	0	0	0	0	1	0	0	16587	893	31	4	2843	4	TRPM6	9	77390913	Nonsense_Mutation	SNP	C	TCGA-DJ-A3UO-01A-11D-A22D-08		77390913	63822518	13	2560											
FAM55B	120406	broad.mit.edu	37	chr11	114569205	114569205	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agggccaggtttccctgtctCtgctgctcatccaccccagt	9	16	2	0			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr11:114569205C>G	ENST00000389586.4	+	3	761	c.571C>G	c.(571-573)Ctg>Gtg	p.L191V	NXPE2_ENST00000375475.5_Missense_Mutation_p.L191V	NM_182495.5	NP_872301.2	Q96DL1	NXPE2_HUMAN	neurexophilin and PC-esterase domain family, member 2	191						integral component of membrane (GO:0016021)											TTCCCTGTCTCTGCTGCTCAT	0.537																																						ENST00000375475.5																			0											c.(571-573)Ctg>Gtg		neurexophilin and PC-esterase domain family, member 2							92	102	99					11																	114569205		692	1591	2283	SO:0001583	missense	120406							g.chr11:114569205C>G	AK057953	CCDS44738.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000204361	ENSG00000204361			26331	protein-coding gene	gene with protein product			"family with sequence similarity 55, member B"	FAM55B			Standard	NM_182495		Approved	FLJ25224	uc009yyy.2	Q96DL1	OTTHUMG00000168293	ENST00000389586.4:c.571C>G	11.37:g.114569205C>G	ENSP00000374237:p.Leu191Val					NXPE2_ENST00000389586.4_Missense_Mutation_p.L191V	p.L191V							3	669	+								Q2NKI8	Missense_Mutation	SNP	ENST00000389586.4	37	c.571C>G	CCDS44738.1	.	.	.	.	.	.	.	.	.	.	C	4.689	0.128170	0.08981	.	.	ENSG00000204361	ENST00000389586;ENST00000375475;ENST00000505358	T;T	0.08720	3.57;3.06	4.66	-6.61	0.01818	Immunoglobulin E-set (1);	1.685130	0.03965	N	0.290589	T	0.04003	0.0112	N	0.04132	-0.27	0.09310	N	1	B	0.16603	0.018	B	0.17722	0.019	T	0.48246	-0.9052	10	0.02654	T	1	.	17.5256	0.87799	0.0956:0.1602:0.7441:0.0	.	191	Q96DL1	FA55B_HUMAN	V	191	ENSP00000374237:L191V;ENSP00000364624:L191V	ENSP00000364624:L191V	L	+	1	2	FAM55B	114074415	0.000000	0.05858	0.025000	0.17156	0.961000	0.63080	-2.489000	0.00976	-1.163000	0.02793	-0.282000	0.10007	CTG		0.537	NXPE2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399181.1	NM_182495		3	47	0	0	0	1	0	3	47					G	114569205	C	G	114569205	3	3	120	1	0	0	0	0	1	0	0	0	5585	912	32	4	581	4	FAM55B	11	114569205	Missense_Mutation	SNP	C	TCGA-DJ-A3UO-01A-11D-A22D-08		114569205	20437311	14	2561											
KCNA5	3741	broad.mit.edu	37	chr12	5154100	5154100	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cggtcttggttatcctcatcTccatcatcaccttctgcttg	6	14	6	0			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr12:5154100T>G	ENST00000252321.3	+	1	1016	c.787T>G	c.(787-789)Tcc>Gcc	p.S263A		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	263					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)	TATCCTCATCTCCATCATCAC	0.642																																						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.(787-789)Tcc>Gcc		potassium voltage-gated channel, shaker-related subfamily, member 5							108	114	112					12																	5154100		2203	4300	6503	SO:0001583	missense	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5154100T>G	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.787T>G	12.37:g.5154100T>G	ENSP00000252321:p.Ser263Ala						p.S263A	NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN			1	1016	+			263					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	c.787T>G	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.938397	0.73557	.	.	ENSG00000130037	ENST00000252321	T	0.69561	-0.41	4.77	4.77	0.60923	.	0.000000	0.85682	U	0.000000	T	0.81791	0.4897	M	0.90542	3.125	0.80722	D	1	D	0.56287	0.975	P	0.58210	0.835	D	0.86101	0.1556	10	0.87932	D	0	.	13.6401	0.62246	0.0:0.0:0.0:1.0	.	263	P22460	KCNA5_HUMAN	A	263	ENSP00000252321:S263A	ENSP00000252321:S263A	S	+	1	0	KCNA5	5024361	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.799000	0.85936	2.007000	0.58848	0.459000	0.35465	TCC		0.642	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		35	258	0	0	0	1	0	35	258					G	5154100	T	G	5154100	3	3	120	1	0	0	0	0	1	0	0	0	8006	1551	54	5	789	5	KCNA5	12	5154100	Missense_Mutation	SNP	T	TCGA-DJ-A3UO-01A-11D-A22D-08		5154100	128697795	15	2562											
LRCH1	23143	broad.mit.edu	37	chr13	47243183	47243186	+	Frame_Shift_Del	DEL	CCTG	CCTG	-													agtcgaaatcagctgtccgcCctgcctgcctgcctgtgtgg					rs564905243	byFrequency	TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr13:47243183_47243186delCCTG	ENST00000389798.3	+	3	668_671	c.471_474delCCTG	c.(469-474)gccctgfs	p.AL157fs	LRCH1_ENST00000311191.6_Frame_Shift_Del_p.AL157fs|LRCH1_ENST00000389797.3_Frame_Shift_Del_p.AL157fs	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	157										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		AGCTGTCCGCCCTGCCTGCCTGCC	0.436																																						ENST00000311191.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(469-474)gcfs		leucine-rich repeats and calponin homology (CH) domain containing 1																																				SO:0001589	frameshift_variant	23143							g.chr13:47243183_47243186delCCTG	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"calponin homology (CH) domain containing 1"	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.471_474delCCTG	13.37:g.47243191_47243194delCCTG	ENSP00000374448:p.Ala157fs					LRCH1_ENST00000389797.3_Frame_Shift_Del_p.AL157fs|LRCH1_ENST00000389798.3_Frame_Shift_Del_p.AL157fs	p.AL157fs	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	3	700_703	+		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	157					B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Frame_Shift_Del	DEL	ENST00000389798.3	37	c.471_474delCCTG	CCDS31972.1																																																																																				0.436	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		8	316						8	316	---	---	---	---	-	47243186	CCTG	-	47243183	7	5	120	1	0	1	0	1	0	0	0	0	8932	610	22	0	481	0	LRCH1	13	47243183	Frame_Shift_Del	DEL	CCTG	TCGA-DJ-A3UO-01A-11D-A22D-08		47243183	67926695	16	2563											
ZNF263	10127	broad.mit.edu	37	chr16	3339612	3339612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcagagaactggggcgacCgaaggaactgcagccaaaga	15	9	0	2	rs541895788	byFrequency	TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr16:3339612C>T	ENST00000219069.5	+	6	1982	c.1106C>T	c.(1105-1107)cCg>cTg	p.P369L	ZNF263_ENST00000538765.1_Missense_Mutation_p.P17L|ZNF263_ENST00000574253.1_Nonsense_Mutation_p.R203*	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	369					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						CTGGGGCGACCGAAGGAACTG	0.532													C|||	2	0.000399361	0	0	5008	,	,		19165	0		0	False		,,,				2504	0.002					ENST00000574253.1																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						c.(607-609)Cga>Tga		zinc finger protein 263							55	53	54					16																	3339612		2197	4300	6497	SO:0001583	missense	10127				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3339612C>T	AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194		"Zinc fingers, C2H2-type", "-", "-", "-"	13056	protein-coding gene	gene with protein product		604191				9256059	Standard	NM_005741		Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000219069.5:c.1106C>T	16.37:g.3339612C>T	ENSP00000219069:p.Pro369Leu					ZNF263_ENST00000219069.5_Missense_Mutation_p.P369L|ZNF263_ENST00000538765.1_Missense_Mutation_p.P17L	p.R203*			O14978	ZN263_HUMAN			2	916	+			615					B2R634|O43387|Q96H95	Nonsense_Mutation	SNP	ENST00000219069.5	37	c.607C>T	CCDS10499.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417524	0.62622	.	.	ENSG00000006194	ENST00000538765;ENST00000219069	T;T	0.05996	3.36;3.46	5.84	3.73	0.42828	.	0.682009	0.13481	N	0.384684	T	0.03095	0.0091	N	0.08118	0	0.37786	D	0.927202	B	0.32731	0.382	B	0.19666	0.026	T	0.53878	-0.8376	10	0.21014	T	0.42	.	10.8049	0.46512	0.3439:0.6561:0.0:0.0	.	369	O14978	ZN263_HUMAN	L	17;369	ENSP00000444497:P17L;ENSP00000219069:P369L	ENSP00000219069:P369L	P	+	2	0	ZNF263	3279613	0.442000	0.25633	0.140000	0.22221	0.007000	0.05969	2.314000	0.43743	1.423000	0.47198	0.655000	0.94253	CCG		0.532	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251463.2			33	37	0	0	0	1	0	33	37					T	3339612	C	T	3339612	3	4	120	1	0	0	0	0	1	0	0	0	17800	652	23	1	1128	1	ZNF263	16	3339612	Missense_Mutation	SNP	C	TCGA-DJ-A3UO-01A-11D-A22D-08		3339612	87015141	17	2564											
OR3A3	8392	broad.mit.edu	37	chr17	3324444	3324444	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgacctcccacagctcttcCagctctcctgctccagcacc	6	20	2	1			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr17:3324444C>A	ENST00000291231.1	+	1	583	c.583C>A	c.(583-585)Cag>Aag	p.Q195K		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	195					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						ACAGCTCTTCCAGCTCTCCTG	0.552																																						ENST00000291231.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						c.(583-585)Cag>Aag		olfactory receptor, family 3, subfamily A, member 3							75	72	73					17																	3324444		2203	4298	6501	SO:0001583	missense	8392				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3324444C>A	U04688	CCDS11025.1	17p13.3	2012-08-09			ENSG00000159961	ENSG00000159961		"GPCR / Class A : Olfactory receptors"	8284	protein-coding gene	gene with protein product				OR3A6, OR3A7, OR3A8P		8004088, 9500546	Standard	NM_012373		Approved	OR17-201, OR17-137, OR17-16	uc010vrd.2	P47888	OTTHUMG00000090649	ENST00000291231.1:c.583C>A	17.37:g.3324444C>A	ENSP00000291231:p.Gln195Lys						p.Q195K	NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN			1	583	+			195					Q2VPE4|Q6IFM6|Q9P1Q4|Q9UBE7	Missense_Mutation	SNP	ENST00000291231.1	37	c.583C>A	CCDS11025.1	.	.	.	.	.	.	.	.	.	.	.	0.044	-1.272735	0.01421	.	.	ENSG00000159961	ENST00000291231	T	0.00016	9.12	2.52	0.365	0.16131	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.01019	-1.045	0.09310	N	1	B	0.10296	0.003	B	0.18263	0.021	T	0.23332	-1.0191	9	0.02654	T	1	.	4.2322	0.10608	0.5327:0.3393:0.0:0.1279	.	195	P47888	OR3A3_HUMAN	K	195	ENSP00000291231:Q195K	ENSP00000291231:Q195K	Q	+	1	0	OR3A3	3271194	0.000000	0.05858	0.966000	0.40874	0.992000	0.81027	-0.140000	0.10342	0.116000	0.18110	0.650000	0.86243	CAG		0.552	OR3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207309.1			56	90	1	0	8.83742e-36	1	1.05558e-35	56	90					A	3324444	C	A	3324444	3	1	120	1	0	0	0	0	1	0	0	0	11039	595	21	4	585	4	OR3A3	17	3324444	Missense_Mutation	SNP	C	TCGA-DJ-A3UO-01A-11D-A22D-08		3324444	77870766	18	2565											
ALOX12	239	broad.mit.edu	37	chr17	6908626	6908626	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gaaatcaacacccgggcccgGacccaactcatctcagatgg	9	15	3	1			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr17:6908626G>T	ENST00000251535.6	+	9	1265	c.1212G>T	c.(1210-1212)cgG>cgT	p.R404R	RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000573939.1_Intron|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000399540.2_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	404	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						CCCGGGCCCGGACCCAACTCA	0.552											OREG0024126	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000251535.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						c.(1210-1212)cgG>cgT		arachidonate 12-lipoxygenase							148	155	152					17																	6908626		2203	4300	6503	SO:0001819	synonymous_variant	239				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr17:6908626G>T	M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"Arachidonate lipoxygenases"	429	protein-coding gene	gene with protein product	"platelet 12-LOX"	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.1212G>T	17.37:g.6908626G>T			OREG0024126	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	637	AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000399541.2_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399540.2_Intron|AC027763.2_ENST00000573939.1_Intron	p.R404R	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN			9	1265	+			404			Lipoxygenase.		O95569|Q6ISF8|Q9UQM4	Silent	SNP	ENST00000251535.6	37	c.1212G>T	CCDS11084.1																																																																																				0.552	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219922.2			7	534	1	0	0.00448238	1	0.00481856	7	534					T	6908626	G	T	6908626	2	4	120	1	0	0	0	0	0	0	0	1	536	1161	41	4		4	ALOX12	17	6908626	Silent	SNP	G	TCGA-DJ-A3UO-01A-11D-A22D-08	3584182	6908626	74286584	19	2566											
KRBA2	124751	broad.mit.edu	37	chr17	8273458	8273458	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcacatcatattttgctgcaCggcgataatcacgtgatgac	8	10	3	2	rs139656920	byFrequency	TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr17:8273458C>A	ENST00000331336.2	-	2	478	c.473G>T	c.(472-474)cGt>cTt	p.R158L	RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000583963.1_RNA|KRBA2_ENST00000396267.1_Missense_Mutation_p.R76L|RP11-849F2.5_ENST00000580537.1_RNA	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	158					DNA integration (GO:0015074)|regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						TTTTGCTGCACGGCGATAATC	0.378																																						ENST00000396267.1																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						c.(226-228)cGt>cTt		KRAB-A domain containing 2							249	225	233					17																	8273458		2203	4300	6503	SO:0001583	missense	124751				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding	g.chr17:8273458C>A	BC024723	CCDS11141.1	17p13.1	2013-01-08	2006-08-15		ENSG00000184619	ENSG00000184619		"-"	26989	protein-coding gene	gene with protein product			"KRAB A domain containing 2"			12477932	Standard	NM_213597		Approved		uc002glf.1	Q6ZNG9	OTTHUMG00000132864	ENST00000331336.2:c.473G>T	17.37:g.8273458C>A	ENSP00000328017:p.Arg158Leu					KRBA2_ENST00000331336.2_Missense_Mutation_p.R158L|RP11-849F2.5_ENST00000583963.1_RNA|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR	p.R76L			Q6ZNG9	KRBA2_HUMAN			2	1058	-			158			KRAB.		Q8IYY0	Missense_Mutation	SNP	ENST00000331336.2	37	c.227G>T	CCDS11141.1	.	.	.	.	.	.	.	.	.	.	C	8.763	0.924057	0.18056	.	.	ENSG00000184619	ENST00000396267;ENST00000331336	T;T	0.21543	2.04;2.0	2.4	0.321	0.15883	.	.	.	.	.	T	0.12817	0.0311	N	0.24115	0.695	0.23346	N	0.997866	B	0.18968	0.032	B	0.12837	0.008	T	0.26326	-1.0106	9	0.49607	T	0.09	.	6.7159	0.23302	0.0:0.7366:0.0:0.2634	.	158	Q6ZNG9	KRBA2_HUMAN	L	76;158	ENSP00000379565:R76L;ENSP00000328017:R158L	ENSP00000328017:R158L	R	-	2	0	KRBA2	8214183	0.005000	0.15991	0.526000	0.27913	0.619000	0.37552	-0.005000	0.12855	0.130000	0.18549	0.550000	0.68814	CGT		0.378	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256338.1	NM_213597		35	204	1	0	4.44401e-20	1	5.16466e-20	35	204					A	8273458	C	A	8273458	3	1	120	1	0	0	0	0	1	0	0	0	8440	536	19	4	1009	4	KRBA2	17	8273458	Missense_Mutation	SNP	C	TCGA-DJ-A3UO-01A-11D-A22D-08	1364832	8273458	72921752	20	2567											
ACLY	47	broad.mit.edu	37	chr17	40024146	40024146	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgcttcagcctcttctgatCaagatagtgtcctaaaatga	7	10	4	3			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr17:40024146C>A	ENST00000352035.2	-	29	3353	c.3223G>T	c.(3223-3225)Gat>Tat	p.D1075Y	ACLY_ENST00000590151.1_Missense_Mutation_p.D1075Y|ACLY_ENST00000353196.1_Missense_Mutation_p.D1065Y|KLHL11_ENST00000319121.3_5'Flank|ACLY_ENST00000537919.1_Missense_Mutation_p.D804Y|ACLY_ENST00000588779.1_5'UTR|ACLY_ENST00000393896.2_Missense_Mutation_p.D1065Y	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	1075					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CTCTTCTGATCAAGATAGTGT	0.433																																					Colon(64;807 1396 15971 30971)	ENST00000352035.2																		NTN1/ACLY(2)	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(3223-3225)Gat>Tat		ATP citrate lyase							134	122	126					17																	40024146		2203	4300	6503	SO:0001583	missense	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40024146C>A	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"ATP citrate synthase"	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.3223G>T	17.37:g.40024146C>A	ENSP00000253792:p.Asp1075Tyr					ACLY_ENST00000590151.1_Missense_Mutation_p.D1075Y|ACLY_ENST00000588779.1_5'UTR|ACLY_ENST00000537919.1_Missense_Mutation_p.D804Y|ACLY_ENST00000393896.2_Missense_Mutation_p.D1065Y|ACLY_ENST00000353196.1_Missense_Mutation_p.D1065Y	p.D1075Y	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN			29	3353	-		Breast(137;0.000143)	1075					B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	ENST00000352035.2	37	c.3223G>T	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	-	23.5	4.418587	0.83559	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	D;D;D;D	0.91740	-2.0;-1.99;-2.9;-1.99	5.95	4.93	0.64822	Citrate synthase-like, core (1);	0.101533	0.64402	D	0.000004	D	0.96907	0.8990	M	0.92122	3.275	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.80764	0.947;0.977;0.977;0.994;0.964	D	0.97451	1.0028	10	0.87932	D	0	.	16.6515	0.85203	0.0:0.8704:0.1296:0.0	.	804;1119;1129;1065;1075	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	Y	1075;1129;1065;804;1065	ENSP00000253792:D1075Y;ENSP00000345398:D1065Y;ENSP00000445349:D804Y;ENSP00000377474:D1065Y	ENSP00000253792:D1075Y	D	-	1	0	ACLY	37277672	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.993000	0.70616	2.821000	0.97095	0.650000	0.86243	GAT		0.433	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		3	89	1	0	1	1	1	3	89					A	40024146	C	A	40024146	3	1	120	1	0	0	0	0	1	0	0	0	143	826	29	4	86	4	ACLY	17	40024146	Missense_Mutation	SNP	C	TCGA-DJ-A3UO-01A-11D-A22D-08	31750688	40024146	41171064	21	2568											
EFTUD2	9343	broad.mit.edu	37	chr17	42941058	42941058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actcatagcctcgccgaggtCggagtccacaccaccggtgt	11	15	1	0			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr17:42941058C>T	ENST00000426333.2	-	15	1675	c.1378G>A	c.(1378-1380)Gac>Aac	p.D460N	EFTUD2_ENST00000592576.1_Missense_Mutation_p.D450N|EFTUD2_ENST00000591382.1_Missense_Mutation_p.D460N|EFTUD2_ENST00000402521.3_Missense_Mutation_p.D425N	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	460					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TCGCCGAGGTCGGAGTCCACA	0.552																																					Ovarian(10;65 485 10258 29980 30707)	ENST00000426333.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(1378-1380)Gac>Aac		elongation factor Tu GTP binding domain containing 2							123	96	106					17																	42941058		2203	4300	6503	SO:0001583	missense	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42941058C>T	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 116 kD"	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.1378G>A	17.37:g.42941058C>T	ENSP00000392094:p.Asp460Asn					EFTUD2_ENST00000592576.1_Missense_Mutation_p.D450N|EFTUD2_ENST00000591382.1_Missense_Mutation_p.D460N|EFTUD2_ENST00000402521.3_Missense_Mutation_p.D425N	p.D460N	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN			15	1675	-		Prostate(33;0.109)	460					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	c.1378G>A	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.785628	0.70337	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.80214	-1.35;-1.35	6.04	6.04	0.98038	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.044050	0.85682	D	0.000000	T	0.76579	0.4007	L	0.38175	1.15	0.80722	D	1	B;B	0.15719	0.014;0.014	B;B	0.11329	0.006;0.006	T	0.68743	-0.5328	10	0.48119	T	0.1	-10.6099	20.5792	0.99380	0.0:1.0:0.0:0.0	.	450;460	B4DMC0;Q15029	.;U5S1_HUMAN	N	460;450;425	ENSP00000392094:D460N;ENSP00000385873:D425N	ENSP00000262414:D450N	D	-	1	0	EFTUD2	40296584	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.453000	0.80700	2.873000	0.98535	0.561000	0.74099	GAC		0.552	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		4	141	0	0	0	1	0	4	141					T	42941058	C	T	42941058	3	4	120	1	0	0	0	0	1	0	0	0	4961	884	31	1	1596	1	EFTUD2	17	42941058	Missense_Mutation	SNP	C	TCGA-DJ-A3UO-01A-11D-A22D-08	2916912	42941058	38254152	22	2569											
CCDC40	55036	broad.mit.edu	37	chr17	78073390	78073390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggctgtgaaggaggggcGctacgtgttcctgttccgct	16	10	0	1			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr17:78073390G>A	ENST00000397545.4	+	20	3272	c.3245G>A	c.(3244-3246)cGc>cAc	p.R1082H	GAA_ENST00000390015.3_5'Flank|GAA_ENST00000302262.3_5'Flank	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	1082					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AAGGAGGGGCGCTACGTGTTC	0.602																																						ENST00000397545.4																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38						c.(3244-3246)cGc>cAc		coiled-coil domain containing 40							53	60	58					17																	78073390		2011	4184	6195	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78073390G>A	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.3245G>A	17.37:g.78073390G>A	ENSP00000380679:p.Arg1082His						p.R1082H	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		20	3272	+	all_neural(118;0.167)		1082					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.3245G>A	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.853545	0.32791	.	.	ENSG00000141519	ENST00000397545	T	0.50548	0.74	4.76	0.524	0.17066	.	.	.	.	.	T	0.53578	0.1805	L	0.56769	1.78	0.09310	N	1	D;D	0.69078	0.997;0.996	P;P	0.54965	0.765;0.742	T	0.45920	-0.9228	9	0.59425	D	0.04	-14.9157	9.1347	0.36866	0.6443:0.0:0.3557:0.0	.	1082;865	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	H	1082	ENSP00000380679:R1082H	ENSP00000380679:R1082H	R	+	2	0	CCDC40	75687985	0.995000	0.38212	0.002000	0.10522	0.101000	0.19017	1.345000	0.33953	0.024000	0.15214	0.655000	0.94253	CGC		0.602	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		3	67	0	0	0	1	0	3	67					A	78073390	G	A	78073390	3	1	120	1	0	0	0	0	1	0	0	0	2812	1087	38	1	3323	1	CCDC40	17	78073390	Missense_Mutation	SNP	G	TCGA-DJ-A3UO-01A-11D-A22D-08	35132332	78073390	3121820	23	2570											
ILF3	3609	broad.mit.edu	37	chr19	10789305	10789305	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagaaacgctatcagtcaaCgaccccccggacgttctgga	9	13	3	1			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr19:10789305C>T	ENST00000590261.1	+	5	576	c.576C>T	c.(574-576)aaC>aaT	p.N192N	ILF3_ENST00000592763.1_Silent_p.N192N|ILF3_ENST00000588657.1_Silent_p.N192N|ILF3_ENST00000318511.3_Silent_p.N192N|ILF3_ENST00000420083.1_Silent_p.N192N|ILF3_ENST00000407004.3_Silent_p.N192N|ILF3_ENST00000250241.8_Silent_p.N192N|ILF3_ENST00000589998.1_Silent_p.N192N|ILF3_ENST00000449870.1_Silent_p.N192N			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	192	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TATCAGTCAACGACCCCCCGG	0.502																																						ENST00000449870.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(574-576)aaC>aaT		interleukin enhancer binding factor 3, 90kDa							96	84	88					19																	10789305		2203	4300	6503	SO:0001819	synonymous_variant	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10789305C>T	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"M-phase phosphoprotein 4"	603182	"interleukin enhancer binding factor 3, 90kD"			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.576C>T	19.37:g.10789305C>T						ILF3_ENST00000318511.3_Silent_p.N192N|ILF3_ENST00000592763.1_Silent_p.N192N|ILF3_ENST00000420083.1_Silent_p.N192N|ILF3_ENST00000588657.1_Silent_p.N192N|ILF3_ENST00000590261.1_Silent_p.N192N|ILF3_ENST00000250241.8_Silent_p.N192N|ILF3_ENST00000407004.3_Silent_p.N192N|ILF3_ENST00000589998.1_Silent_p.N192N	p.N192N	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		6	893	+			192			DZF.		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Silent	SNP	ENST00000590261.1	37	c.576C>T	CCDS12246.1																																																																																				0.502	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			4	154	0	0	0	1	0	4	154					T	10789305	C	T	10789305	2	4	120	1	0	0	0	0	0	0	0	1	7712	535	19	1		1	ILF3	19	10789305	Silent	SNP	C	TCGA-DJ-A3UO-01A-11D-A22D-08		10789305	48339678	24	2571											
FIGF	2277	broad.mit.edu	37	chrX	15365368	15365368	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaagcaactgcagttttTggggtgctggattagatctt	11	7	2	1			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chrX:15365368T>G	ENST00000297904.3	-	6	1285	c.856A>C	c.(856-858)Aaa>Caa	p.K286Q	FIGF_ENST00000488351.1_5'UTR	NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	286	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|induction of positive chemotaxis (GO:0050930)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell chemotaxis (GO:0060754)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor binding (GO:0005172)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					CTGCAGTTTTTGGGGTGCTGG	0.488																																						ENST00000297904.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						c.(856-858)Aaa>Caa		c-fos induced growth factor (vascular endothelial growth factor D)							151	137	142					X																	15365368		2203	4300	6503	SO:0001583	missense	2277				angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding	g.chrX:15365368T>G	AJ000185	CCDS14166.1	Xp22.31	2008-02-05			ENSG00000165197	ENSG00000165197			3708	protein-coding gene	gene with protein product		300091		VEGFD		9479493	Standard	NM_004469		Approved	VEGF-D	uc004cwt.2	O43915	OTTHUMG00000021175	ENST00000297904.3:c.856A>C	X.37:g.15365368T>G	ENSP00000297904:p.Lys286Gln					FIGF_ENST00000488351.1_5'UTR	p.K286Q	NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN			6	1285	-	Hepatocellular(33;0.183)		286			4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.		B2R7Z3	Missense_Mutation	SNP	ENST00000297904.3	37	c.856A>C	CCDS14166.1	.	.	.	.	.	.	.	.	.	.	T	7.506	0.653672	0.14580	.	.	ENSG00000165197	ENST00000297904	.	.	.	5.02	3.15	0.36227	.	0.417921	0.24375	N	0.039061	T	0.14442	0.0349	N	0.03608	-0.345	0.22050	N	0.999395	B	0.09022	0.002	B	0.06405	0.002	T	0.25117	-1.0141	9	0.19590	T	0.45	-23.2321	7.6511	0.28348	0.0:0.7409:0.1605:0.0986	.	286	O43915	VEGFD_HUMAN	Q	286	.	ENSP00000297904:K286Q	K	-	1	0	FIGF	15275289	0.992000	0.36948	0.687000	0.30102	0.642000	0.38348	1.533000	0.36040	0.376000	0.24707	-0.378000	0.06908	AAA		0.488	FIGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055859.1	NM_004469		3	82	0	0	0	1	0	3	82					G	15365368	T	G	15365368	3	3	120	1	0	0	0	0	1	0	0	0	5889	1821	63	5	216	5	FIGF	23	15365368	Missense_Mutation	SNP	T	TCGA-DJ-A3UO-01A-11D-A22D-08		15365368	139905192	25	2572											
SDC3	9672	broad.mit.edu	37	chr1	31349713	31349713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggggtgctgggggtggCggtggccactgtggcaggca	22	8	0	0	rs372651371		TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr1:31349713C>T	ENST00000339394.6	-	3	730	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	SDC3_ENST00000471567.1_5'UTR|SDC3_ENST00000336798.7_Missense_Mutation_p.A128T	NM_014654.3	NP_055469.3	O75056	SDC3_HUMAN	syndecan 3	186	Ser/Thr-rich (mucin-like).				carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGGGGTGGCGGTGGCCACT	0.637																																						ENST00000336798.7																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(382-384)Gcc>Acc		syndecan 3		C	THR/ALA	0,4396		0,0,2198	22	25	24		556	2.5	0.0	1		24	1,8571		0,1,4285	no	missense	SDC3	NM_014654.3	58	0,1,6483	TT,TC,CC		0.0117,0.0,0.0077	benign	186/443	31349713	1,12967	2198	4286	6484	SO:0001583	missense	9672					integral to membrane	cytoskeletal protein binding	g.chr1:31349713C>T	AF248634	CCDS30661.1	1p35.2	2013-09-19	2007-02-15		ENSG00000162512	ENSG00000162512		"Proteoglycans / Cell Surface : Syndecans"	10660	protein-coding gene	gene with protein product	"syndecan proteoglycan 3"	186357	"syndecan 3 (N-syndecan)"			1556152, 11527150	Standard	NM_014654		Approved	N-syndecan, SYND3	uc001bse.2	O75056	OTTHUMG00000043646	ENST00000339394.6:c.556G>A	1.37:g.31349713C>T	ENSP00000344468:p.Ala186Thr					SDC3_ENST00000471567.1_5'UTR|SDC3_ENST00000339394.6_Missense_Mutation_p.A186T	p.A128T			O75056	SDC3_HUMAN		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)	1	1874	-		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)	186			Ser/Thr-rich (mucin-like).		Q5T1Z6|Q5T1Z7|Q96CT3|Q96PR8	Missense_Mutation	SNP	ENST00000339394.6	37	c.382G>A	CCDS30661.1	.	.	.	.	.	.	.	.	.	.	C	0.534	-0.856789	0.02630	0.0	1.17E-4	ENSG00000162512	ENST00000336798;ENST00000339394	T;T	0.22134	1.99;1.97	4.99	2.46	0.29980	.	0.510735	0.18029	N	0.153967	T	0.07234	0.0183	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.004;0.006	B;B	0.13407	0.008;0.009	T	0.37009	-0.9724	10	0.06891	T	0.86	-5.1076	3.0789	0.06255	0.1993:0.5273:0.0:0.2734	.	186;128	O75056;D3DPN2	SDC3_HUMAN;.	T	128;186	ENSP00000338346:A128T;ENSP00000344468:A186T	ENSP00000338346:A128T	A	-	1	0	SDC3	31122300	0.261000	0.24063	0.010000	0.14722	0.005000	0.04900	0.471000	0.22100	0.756000	0.33013	0.462000	0.41574	GCC		0.637	SDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102017.1	NM_014654		16	24	0	0	0	1	0	16	24					T	31349713	C	T	31349713	3	4	121	1	0	0	0	0	1	0	0	0	13953	768	27	1	784	1	SDC3	1	31349713	Missense_Mutation	SNP	C	TCGA-DJ-A3UP-01A-11D-A22D-08		31349713	217900908	1	2573											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290	byFrequency	TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		neuroblastoma RAS viral (v-ras) oncogene homolog							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		88	140	0	0	0	1	0	88	140					C	115256529	T	C	115256529	3	2	121	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-DJ-A3UP-01A-11D-A22D-08	83906816	115256529	133994092	2	2574											
PUM2	23369	broad.mit.edu	37	chr2	20478389	20478389	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgatgaaagtgatggcgGtggcgtaagtgaatgtcctg	16	4	0	4			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr2:20478389G>A	ENST00000361078.2	-	12	1934	c.1912C>T	c.(1912-1914)Ccg>Tcg	p.P638S	PUM2_ENST00000403432.1_Missense_Mutation_p.P638S|PUM2_ENST00000338086.5_Missense_Mutation_p.P638S|PUM2_ENST00000319801.5_Intron|PUM2_ENST00000536417.1_Missense_Mutation_p.P582S			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	638	Ser-rich.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTGATGGCGGTGGCGTAAGT	0.413																																						ENST00000361078.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42						c.(1912-1914)Ccg>Tcg		pumilio RNA-binding family member 2							139	135	136					2																	20478389		2203	4299	6502	SO:0001583	missense	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20478389G>A	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"pumilio (Drosphila) homolog 2", "pumilio homolog 2 (Drosophila)"			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.1912C>T	2.37:g.20478389G>A	ENSP00000354370:p.Pro638Ser					PUM2_ENST00000319801.5_Intron|PUM2_ENST00000338086.5_Missense_Mutation_p.P638S|PUM2_ENST00000403432.1_Missense_Mutation_p.P638S|PUM2_ENST00000536417.1_Missense_Mutation_p.P582S	p.P638S			Q8TB72	PUM2_HUMAN			12	1934	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		638			Ser-rich.		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	37	c.1912C>T		.	.	.	.	.	.	.	.	.	.	G	19.38	3.816416	0.70912	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000403432;ENST00000536417	T;T;T;T	0.20463	2.09;2.37;2.09;2.07	5.73	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.45955	0.1368	M	0.65975	2.015	0.80722	D	1	D;P;D	0.89917	1.0;0.815;1.0	D;P;D	0.91635	0.999;0.674;0.994	T	0.42616	-0.9441	10	0.46703	T	0.11	-5.6998	16.8867	0.86078	0.0:0.1282:0.8718:0.0	.	582;638;638	B4E2B6;Q8TB72-3;Q8TB72	.;.;PUM2_HUMAN	S	638;638;638;582	ENSP00000338173:P638S;ENSP00000354370:P638S;ENSP00000385992:P638S;ENSP00000440093:P582S	ENSP00000338173:P638S	P	-	1	0	PUM2	20341870	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.620000	0.98373	1.426000	0.47256	0.650000	0.86243	CCG		0.413	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		3	75	0	0	0	1	0	3	75					A	20478389	G	A	20478389	3	1	121	1	0	0	0	0	1	0	0	0	12826	1261	44	2	1318	2	PUM2	2	20478389	Missense_Mutation	SNP	G	TCGA-DJ-A3UP-01A-11D-A22D-08		20478389	222720984	3	2575											
BAZ2B	29994	broad.mit.edu	37	chr2	160240182	160240182	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacatataatcaatgttcttGtcgatttcactgccaatgca	6	9	3	0			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr2:160240182G>A	ENST00000392783.2	-	24	4191	c.3696C>T	c.(3694-3696)gaC>gaT	p.D1232D	BAZ2B_ENST00000355831.2_Silent_p.D1198D|BAZ2B_ENST00000392782.1_Silent_p.D1196D|AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000343439.5_Silent_p.D1132D	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1232					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CAATGTTCTTGTCGATTTCAC	0.289																																						ENST00000392783.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(3694-3696)gaC>gaT		bromodomain adjacent to zinc finger domain, 2B							125	111	116					2																	160240182		1828	4064	5892	SO:0001819	synonymous_variant	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160240182G>A	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.3696C>T	2.37:g.160240182G>A						BAZ2B_ENST00000392782.1_Silent_p.D1196D|BAZ2B_ENST00000355831.2_Silent_p.D1198D|BAZ2B_ENST00000343439.5_Silent_p.D1132D	p.D1232D	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			24	4191	-			1232					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Silent	SNP	ENST00000392783.2	37	c.3696C>T	CCDS2209.2																																																																																				0.289	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			13	16	0	0	0	1	0	13	16					A	160240182	G	A	160240182	2	1	121	1	0	0	0	0	0	0	0	1	1332	1368	48	2		2	BAZ2B	2	160240182	Silent	SNP	G	TCGA-DJ-A3UP-01A-11D-A22D-08	139761793	160240182	82959191	4	2576											
XRCC5	7520	broad.mit.edu	37	chr2	216990723	216990723	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgactgaccattggctccaAtttgtctataaggattgcag	9	10	1	1			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr2:216990723A>G	ENST00000392133.3	+	9	1228	c.767A>G	c.(766-768)aAt>aGt	p.N256S	XRCC5_ENST00000392132.2_Missense_Mutation_p.N256S			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	256	Ku.				brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		ATTGGCTCCAATTTGTCTATA	0.388								Non-homologous end-joining																														ENST00000392133.3																			0				endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(766-768)aAt>aGt	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)							96	95	95					2																	216990723		2203	4300	6503	SO:0001583	missense	7520				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding	g.chr2:216990723A>G	AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"Ku autoantigen, 80kDa"	194364	"X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.767A>G	2.37:g.216990723A>G	ENSP00000375978:p.Asn256Ser					XRCC5_ENST00000392132.2_Missense_Mutation_p.N256S	p.N256S			P13010	XRCC5_HUMAN		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)	9	1228	+		Renal(323;0.0328)	256			Ku.		A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	ENST00000392133.3	37	c.767A>G	CCDS2402.1	.	.	.	.	.	.	.	.	.	.	A	9.138	1.013169	0.19277	.	.	ENSG00000079246	ENST00000392133;ENST00000392132	T;T	0.28454	1.61;1.61	5.35	2.97	0.34412	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);DNA helicase, ATP-dependent, Ku type (1);	0.268409	0.44688	N	0.000440	T	0.14960	0.0361	N	0.17082	0.46	0.30668	N	0.753645	B	0.02656	0.0	B	0.04013	0.001	T	0.25328	-1.0135	10	0.10377	T	0.69	.	7.8433	0.29410	0.7726:0.0:0.2274:0.0	.	256	P13010	XRCC5_HUMAN	S	256	ENSP00000375978:N256S;ENSP00000375977:N256S	ENSP00000375977:N256S	N	+	2	0	XRCC5	216698968	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	1.897000	0.39799	0.565000	0.29255	0.533000	0.62120	AAT		0.388	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	NM_021141		4	111	0	0	0	1	0	4	111					G	216990723	A	G	216990723	3	3	121	1	0	0	0	0	1	0	0	0	17453	101	4	3	793	3	XRCC5	2	216990723	Missense_Mutation	SNP	A	TCGA-DJ-A3UP-01A-11D-A22D-08	56750541	216990723	26208650	5	2577											
TMCC1	23023	broad.mit.edu	37	chr3	129370592	129370592	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgctgctgctgctgcTgcagctccatcttggagatg	11	14	1	1			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr3:129370592T>A	ENST00000393238.3	-	6	2034	c.1694A>T	c.(1693-1695)cAg>cTg	p.Q565L	TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	565						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGCTGCTGCTGCAGCTCCAT	0.572																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(1693-1695)cAg>cTg		transmembrane and coiled-coil domain family 1							79	76	77					3																	129370592		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129370592T>A	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"Transmembrane and coiled-coil domain containing"	29116	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 1"			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1694A>T	3.37:g.129370592T>A	ENSP00000376930:p.Gln565Leu					TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L	p.Q565L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			6	2034	-			565					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.1694A>T	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.009576	0.75046	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	L	0.46614	1.455	0.80722	D	1	D;D	0.67145	0.996;0.985	D;D	0.85130	0.997;0.973	T	0.58278	-0.7664	10	0.33940	T	0.23	-18.4911	15.1509	0.72696	0.0:0.0:0.0:1.0	.	386;565	B4DE04;O94876	.;TMCC1_HUMAN	L	241;565;451;386	ENSP00000404711:Q241L;ENSP00000376930:Q565L;ENSP00000389892:Q451L;ENSP00000327349:Q386L	ENSP00000327349:Q386L	Q	-	2	0	TMCC1	130853282	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.735000	0.84939	2.172000	0.68678	0.533000	0.62120	CAG		0.572	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		3	151	0	0	0	1	0	3	151					A	129370592	T	A	129370592	3	1	121	1	0	0	0	0	1	0	0	0	15989	1580	55	5	271	5	TMCC1	3	129370592	Missense_Mutation	SNP	T	TCGA-DJ-A3UP-01A-11D-A22D-08		129370592	68651838	6	2578											
SLCO2A1	6578	broad.mit.edu	37	chr3	133667435	133667435	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactgcttctccaggaacttGttgaggaaggtggagaggcc	14	8	1	2			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr3:133667435G>A	ENST00000310926.4	-	8	1323	c.1050C>T	c.(1048-1050)aaC>aaT	p.N350N	SLCO2A1_ENST00000493729.1_Silent_p.N274N	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	350					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)	CCAGGAACTTGTTGAGGAAGG	0.587																																						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.(1048-1050)aaC>aaT		solute carrier organic anion transporter family, member 2A1							155	147	150					3																	133667435		2203	4300	6503	SO:0001819	synonymous_variant	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133667435G>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.1050C>T	3.37:g.133667435G>A						SLCO2A1_ENST00000493729.1_Silent_p.N274N	p.N350N	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN			8	1323	-			350					Q86V98|Q8IUN2	Silent	SNP	ENST00000310926.4	37	c.1050C>T	CCDS3084.1																																																																																				0.587	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		6	225	0	0	0	1	0	6	225					A	133667435	G	A	133667435	2	1	121	1	0	0	0	0	0	0	0	1	14726	1368	48	2		2	SLCO2A1	3	133667435	Silent	SNP	G	TCGA-DJ-A3UP-01A-11D-A22D-08	4296843	133667435	64354995	7	2579											
OPA1	4976	broad.mit.edu	37	chr3	193375008	193375008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacaagtggaatgactttgCggaggacagcttggtatgtt	13	6	0	1			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr3:193375008C>T	ENST00000392438.3	+	21	2387	c.2153C>T	c.(2152-2154)gCg>gTg	p.A718V	OPA1_ENST00000361908.3_Missense_Mutation_p.A755V|OPA1_ENST00000361150.2_Missense_Mutation_p.A719V|OPA1_ENST00000361510.2_Missense_Mutation_p.A773V|OPA1_ENST00000361715.2_Missense_Mutation_p.A737V|OPA1_ENST00000361828.2_Missense_Mutation_p.A736V	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	718					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		AATGACTTTGCGGAGGACAGC	0.353																																						ENST00000361510.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2317-2319)gCg>gTg		optic atrophy 1 (autosomal dominant)							111	115	113					3																	193375008		2203	4300	6503	SO:0001583	missense	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193375008C>T	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"mitochondrial dynamin-like GTPase", "dynamin-like guanosine triphosphatase", "Dynamin-like 120 kDa protein, mitochondrial"	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.2153C>T	3.37:g.193375008C>T	ENSP00000376233:p.Ala718Val					OPA1_ENST00000392438.3_Missense_Mutation_p.A718V|OPA1_ENST00000361828.2_Missense_Mutation_p.A736V|OPA1_ENST00000361150.2_Missense_Mutation_p.A719V|OPA1_ENST00000361908.3_Missense_Mutation_p.A755V|OPA1_ENST00000361715.2_Missense_Mutation_p.A737V	p.A773V	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	23	2552	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		718					D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	c.2318C>T	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040126	0.75732	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	D;D;D;D;D;D	0.95821	-3.42;-3.39;-3.37;-3.4;-3.42;-3.82	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.96731	0.8933	M	0.69463	2.115	0.80722	D	1	D;D;D;D;D;D;D;D	0.69078	0.991;0.992;0.991;0.991;0.997;0.991;0.996;0.995	P;P;P;P;P;P;P;P	0.57679	0.691;0.565;0.691;0.691;0.825;0.791;0.709;0.791	D	0.96175	0.9126	10	0.45353	T	0.12	-15.8721	18.8485	0.92217	0.0:1.0:0.0:0.0	.	682;718;700;719;736;755;737;773	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	V	755;718;773;737;736;719	ENSP00000354681:A755V;ENSP00000376233:A718V;ENSP00000355324:A773V;ENSP00000355311:A737V;ENSP00000354429:A736V;ENSP00000354781:A719V	ENSP00000354781:A719V	A	+	2	0	OPA1	194857702	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.728000	0.84847	2.681000	0.91329	0.655000	0.94253	GCG		0.353	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		3	124	0	0	0	1	0	3	124					T	193375008	C	T	193375008	3	4	121	1	0	0	0	0	1	0	0	0	10871	768	27	1	2408	1	OPA1	3	193375008	Missense_Mutation	SNP	C	TCGA-DJ-A3UP-01A-11D-A22D-08	59707573	193375008	4647422	8	2580											
MFSD7	84179	broad.mit.edu	37	chr4	675823	675823	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctggacgcttggaccctgCctgcgagtctgccggggcgg	16	14	1	0			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr4:675823C>T	ENST00000404286.2	-	10	1622	c.1607G>A	c.(1606-1608)gGc>gAc	p.G536D	MFSD7_ENST00000515118.1_Missense_Mutation_p.G439D|MFSD7_ENST00000503156.1_3'UTR|MFSD7_ENST00000322224.4_Missense_Mutation_p.G535D|MFSD7_ENST00000347950.5_Missense_Mutation_p.G417D	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	536					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						TTGGACCCTGCCTGCGAGTCT	0.692																																						ENST00000322224.4																			0				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						c.(1603-1605)gGc>gAc		major facilitator superfamily domain containing 7							30	31	31					4																	675823		2192	4299	6491	SO:0001583	missense	84179				transmembrane transport	integral to membrane		g.chr4:675823C>T	AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026		"Solute carriers"	26177	protein-coding gene	gene with protein product						12975309	Standard	XM_005272295		Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000404286.2:c.1607G>A	4.37:g.675823C>T	ENSP00000384616:p.Gly536Asp					MFSD7_ENST00000503156.1_3'UTR|MFSD7_ENST00000515118.1_Missense_Mutation_p.G439D|MFSD7_ENST00000347950.5_Missense_Mutation_p.G417D|MFSD7_ENST00000404286.2_Missense_Mutation_p.G536D	p.G535D			Q6UXD7	MFSD7_HUMAN			10	1917	-			536					A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	Missense_Mutation	SNP	ENST00000404286.2	37	c.1604G>A		.	.	.	.	.	.	.	.	.	.	C	16.28	3.079624	0.55753	.	.	ENSG00000169026	ENST00000347950;ENST00000322224;ENST00000404286;ENST00000515118	D;D;D;D	0.96940	-3.86;-3.26;-3.27;-4.18	2.61	2.61	0.31194	.	.	.	.	.	D	0.94016	0.8083	N	0.08118	0	0.19945	N	0.999949	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.989;0.989;0.988;0.995	D	0.85871	0.1416	9	0.87932	D	0	.	5.4952	0.16799	0.0:0.8458:0.0:0.1542	.	439;417;536;535	D6R9R0;Q6UXD7-3;Q6UXD7;Q6UXD7-2	.;.;MFSD7_HUMAN;.	D	417;535;536;439	ENSP00000307545:G417D;ENSP00000320234:G535D;ENSP00000384616:G536D;ENSP00000423204:G439D	ENSP00000320234:G535D	G	-	2	0	MFSD7	665823	0.157000	0.22836	0.144000	0.22314	0.044000	0.14063	1.441000	0.35035	1.804000	0.52760	0.644000	0.83932	GGC		0.692	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358585.1	NM_032219		3	27	0	0	0	1	0	3	27					T	675823	C	T	675823	3	4	121	1	0	0	0	0	1	0	0	0	9537	739	26	2	79	2	MFSD7	4	675823	Missense_Mutation	SNP	C	TCGA-DJ-A3UP-01A-11D-A22D-08		675823	190478453	9	2581											
HTT	3064	broad.mit.edu	37	chr4	3230369	3230369	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacactccgtgtggctggggAacagcatcacacccctgagg	12	13	1	1			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr4:3230369A>G	ENST00000355072.5	+	58	8021	c.7876A>G	c.(7876-7878)Aac>Gac	p.N2626D		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2626					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GTGGCTGGGGAACAGCATCAC	0.642																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(7876-7878)Aac>Gac		huntingtin							53	60	57					4																	3230369		2085	4191	6276	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3230369A>G	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.7876A>G	4.37:g.3230369A>G	ENSP00000347184:p.Asn2626Asp						p.N2626D	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	58	8021	+		all_epithelial(65;0.18)	2626					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.7876A>G	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.032101	0.75504	.	.	ENSG00000197386	ENST00000355072	T	0.67698	-0.28	5.02	5.02	0.67125	.	0.049336	0.85682	D	0.000000	T	0.61123	0.2322	L	0.56769	1.78	0.58432	D	0.999992	P	0.37688	0.605	B	0.30495	0.116	T	0.67273	-0.5712	10	0.62326	D	0.03	.	15.0373	0.71757	1.0:0.0:0.0:0.0	.	2626	P42858	HD_HUMAN	D	2626	ENSP00000347184:N2626D	ENSP00000347184:N2626D	N	+	1	0	HTT	3200167	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	8.655000	0.91098	2.031000	0.59945	0.460000	0.39030	AAC		0.642	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		3	60	0	0	0	1	0	3	60					G	3230369	A	G	3230369	3	3	121	1	0	0	0	0	1	0	0	0	7457	246	9	3	8106	3	HTT	4	3230369	Missense_Mutation	SNP	A	TCGA-DJ-A3UP-01A-11D-A22D-08	2554546	3230369	187923907	10	2582											
PPARGC1A	10891	broad.mit.edu	37	chr4	23833344	23833344	+	Missense_Mutation	SNP	G	G	T													tgtctctgtgaggactgctaGcaagtttgcctcattctctt							TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr4:23833344G>T	ENST00000264867.2	-	3	384	c.265C>A	c.(265-267)Cta>Ata	p.L89I	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	89					androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|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 stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				AGGACTGCTAGCAAGTTTGCC	0.468																																					Esophageal Squamous(29;694 744 13796 34866 44181)	ENST00000264867.2																			0				central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51						c.(265-267)Cta>Ata		peroxisome proliferator-activated receptor gamma, coactivator 1 alpha							310	257	275					4																	23833344		2203	4300	6503	SO:0001583	missense	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23833344G>T	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"RNA binding motif (RRM) containing"	9237	protein-coding gene	gene with protein product		604517	"peroxisome proliferative activated receptor, gamma, coactivator 1", "peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.265C>A	4.37:g.23833344G>T	ENSP00000264867:p.Leu89Ile					PPARGC1A_ENST00000509702.1_5'UTR	p.L89I	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN			3	384	-		Breast(46;0.0503)	89					B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	37	c.265C>A	CCDS3429.1	.	.	.	.	.	.	.	.	.	.	G	35	5.507947	0.96386	.	.	ENSG00000109819	ENST00000264867	T	0.61040	0.14	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.80347	0.4606	M	0.84948	2.725	0.80722	D	1	D	0.69078	0.997	D	0.72625	0.978	T	0.81750	-0.0790	10	0.87932	D	0	-4.482	20.5568	0.99304	0.0:0.0:1.0:0.0	.	89	Q9UBK2	PRGC1_HUMAN	I	89	ENSP00000264867:L89I	ENSP00000264867:L89I	L	-	1	2	PPARGC1A	23442442	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.861000	0.98227	0.655000	0.94253	CTA		0.468	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		14	343	1	0	1.3612e-06	1	1.42308e-06	14	343					T	23833344	G	T	23833344	3	4	121	1	0	0	0	0	1	0	0	0	12300	962	34	4	2175	4	PPARGC1A	4	23833344	Missense_Mutation	SNP	G	TCGA-DJ-A3UP-01A-11D-A22D-08	20602975	23833344	167320932	11	2583	14	2									
PPARGC1A	10891	broad.mit.edu	37	chr4	23833345	23833345	+	Missense_Mutation	SNP	C	C	G													gtctctgtgaggactgctagCaagtttgcctcattctcttc							TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr4:23833345C>G	ENST00000264867.2	-	3	383	c.264G>C	c.(262-264)ttG>ttC	p.L88F	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	88					androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|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 stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GGACTGCTAGCAAGTTTGCCT	0.468																																					Esophageal Squamous(29;694 744 13796 34866 44181)	ENST00000264867.2																			0				central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51						c.(262-264)ttG>ttC		peroxisome proliferator-activated receptor gamma, coactivator 1 alpha							305	253	270					4																	23833345		2203	4300	6503	SO:0001583	missense	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23833345C>G	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"RNA binding motif (RRM) containing"	9237	protein-coding gene	gene with protein product		604517	"peroxisome proliferative activated receptor, gamma, coactivator 1", "peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.264G>C	4.37:g.23833345C>G	ENSP00000264867:p.Leu88Phe					PPARGC1A_ENST00000509702.1_5'UTR	p.L88F	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN			3	383	-		Breast(46;0.0503)	88					B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	37	c.264G>C	CCDS3429.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053241	0.93793	.	.	ENSG00000109819	ENST00000264867	T	0.61158	0.13	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.78704	0.4325	M	0.77103	2.36	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.79262	-0.1876	10	0.87932	D	0	-4.4311	20.5568	0.99304	0.0:1.0:0.0:0.0	.	88	Q9UBK2	PRGC1_HUMAN	F	88	ENSP00000264867:L88F	ENSP00000264867:L88F	L	-	3	2	PPARGC1A	23442443	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.763000	0.68818	2.861000	0.98227	0.655000	0.94253	TTG		0.468	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		14	337	0	0	0	1	0	14	337					G	23833345	C	G	23833345	3	3	121	1	0	0	0	0	1	0	0	0	12300	709	25	4	2176	4	PPARGC1A	4	23833345	Missense_Mutation	SNP	C	TCGA-DJ-A3UP-01A-11D-A22D-08	1	23833345	167320931	12	2584	14	2									
GIGYF1	64599	broad.mit.edu	37	chr7	100284337	100284337	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccgagcctccagctgcccTcctcctcctcctcctgttcc	5	23	0	0			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr7:100284337T>C	ENST00000275732.5	-	7	1838	c.629A>G	c.(628-630)gAg>gGg	p.E210G	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	210	Poly-Glu.				insulin-like growth factor receptor signaling pathway (GO:0048009)			p.E210delE(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CCAGCTGCcctcctcctcctc	0.701																																						ENST00000275732.5																			1	Deletion - In frame(1)	p.E210delE(1)	large_intestine(1)	central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(628-630)gAg>gGg		GRB10 interacting GYF protein 1							27	30	29					7																	100284337		2202	4297	6499	SO:0001583	missense	64599							g.chr7:100284337T>C	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"GYF domain containing 1"	612064	"PERQ amino acid rich, with GYF domain 1"	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.629A>G	7.37:g.100284337T>C	ENSP00000275732:p.Glu210Gly					GIGYF1_ENST00000471340.2_Intron	p.E210G	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			7	1838	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		210			Poly-Glu.		Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	37	c.629A>G	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	15.53	2.860831	0.51482	.	.	ENSG00000146830	ENST00000275732	D	0.84146	-1.81	4.59	4.59	0.56863	.	0.125321	0.51477	D	0.000085	T	0.72211	0.3432	N	0.20685	0.6	0.31402	N	0.676515	B	0.06786	0.001	B	0.06405	0.002	T	0.66232	-0.5975	10	0.17832	T	0.49	-25.9062	10.274	0.43499	0.0:0.0:0.0:1.0	.	210	O75420	PERQ1_HUMAN	G	210	ENSP00000275732:E210G	ENSP00000275732:E210G	E	-	2	0	GIGYF1	100122273	1.000000	0.71417	0.998000	0.56505	0.852000	0.48524	2.825000	0.48096	1.922000	0.55676	0.460000	0.39030	GAG		0.701	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		3	63	0	0	0	1	0	3	63					C	100284337	T	C	100284337	3	2	121	1	0	0	0	0	1	0	0	0	6377	1551	54	3	2550	3	GIGYF1	7	100284337	Missense_Mutation	SNP	T	TCGA-DJ-A3UP-01A-11D-A22D-08		100284337	58854326	13	2585											
TNPO3	23534	broad.mit.edu	37	chr7	128610259	128610259	+	Frame_Shift_Del	DEL	G	G	-													gccacatctggtagggtataGggggggaggcaaaagcagca							TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr7:128610259delG	ENST00000265388.5	-	20	2684	c.2541delC	c.(2539-2541)cccfs	p.P847fs	RN7SL306P_ENST00000492941.2_RNA|TNPO3_ENST00000482320.1_Frame_Shift_Del_p.P781fs|TNPO3_ENST00000471166.1_Frame_Shift_Del_p.P881fs|TNPO3_ENST00000471234.1_Frame_Shift_Del_p.P783fs|TNPO3_ENST00000393245.1_Frame_Shift_Del_p.P881fs			Q9Y5L0	TNPO3_HUMAN	transportin 3	847					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						GTAGGGTATAGGGGGGGAGGC	0.483																																					Pancreas(147;583 2585 39696 52331)	ENST00000393245.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						c.(2641-2643)ccfs		transportin 3							155	156	156					7																	128610259		2203	4300	6503	SO:0001589	frameshift_variant	23534				splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	g.chr7:128610259delG	AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"Importins"	17103	protein-coding gene	gene with protein product	"importin 12"	610032	"limb girdle muscular dystrophy 1F (autosomal dominant)"	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.2541delC	7.37:g.128610259delG	ENSP00000265388:p.Pro847fs					TNPO3_ENST00000471234.1_Frame_Shift_Del_p.P783fs|TNPO3_ENST00000471166.1_Frame_Shift_Del_p.P881fs|TNPO3_ENST00000482320.1_Frame_Shift_Del_p.P781fs|TNPO3_ENST00000265388.5_Frame_Shift_Del_p.P847fs	p.P881fs	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN			20	3016	-			847					A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Frame_Shift_Del	DEL	ENST00000265388.5	37	c.2643delC	CCDS5809.1																																																																																				0.483	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1	NM_012470		7	433						7	433	---	---	---	---	-	128610259	G	-	128610259	7	5	121	1	0	1	0	1	0	0	0	0	16334	987	35	0	242	0	TNPO3	7	128610259	Frame_Shift_Del	DEL	G	TCGA-DJ-A3UP-01A-11D-A22D-08	28325922	128610259	30528404	14	2586											
VIPR2	7434	broad.mit.edu	37	chr7	158935229	158935229	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcggcattctgggtgaatGctgttcacctgttcacggtt	11	9	3	1			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr7:158935229G>A	ENST00000262178.2	-	2	245	c.60C>T	c.(58-60)agC>agT	p.S20S	VIPR2_ENST00000402066.1_Silent_p.S161S|VIPR2_ENST00000421760.2_Silent_p.S20S	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	20					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CTGGGTGAATGCTGTTCACCT	0.373																																					Pancreas(154;1876 1931 2329 17914 20079)	ENST00000262178.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22						c.(58-60)agC>agT		vasoactive intestinal peptide receptor 2							146	140	142					7																	158935229		2203	4298	6501	SO:0001819	synonymous_variant	7434				cell-cell signaling	integral to plasma membrane		g.chr7:158935229G>A	CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	12695	protein-coding gene	gene with protein product	"VIP and PACAP receptor 2"	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.60C>T	7.37:g.158935229G>A						VIPR2_ENST00000402066.1_Silent_p.S161S|VIPR2_ENST00000421760.2_Silent_p.S20S	p.S20S	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)	2	245	-	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	20					Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Silent	SNP	ENST00000262178.2	37	c.60C>T	CCDS5950.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.376034	0.42105	.	.	ENSG00000106018	ENST00000418475	.	.	.	5.09	2.17	0.27698	.	.	.	.	.	T	0.54046	0.1834	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45264	-0.9273	4	.	.	.	.	6.4047	0.21658	0.3215:0.0:0.6785:0.0	.	.	.	.	V	15	.	.	A	-	2	0	VIPR2	158627990	0.979000	0.34478	0.795000	0.32087	0.969000	0.65631	0.229000	0.17833	0.608000	0.30000	0.591000	0.81541	GCA		0.373	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1	NM_003382		8	123	0	0	0	1	0	8	123					A	158935229	G	A	158935229	2	1	121	1	0	0	0	0	0	0	0	1	17167	1310	46	2		2	VIPR2	7	158935229	Silent	SNP	G	TCGA-DJ-A3UP-01A-11D-A22D-08	30324970	158935229	203434	15	2587											
DERL1	79139	broad.mit.edu	37	chr8	124033740	124033740	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccagggtaaatagcaggcCtaggatggaatgaatatatg	12	6	0	1			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr8:124033740C>T	ENST00000259512.4	-	6	754		c.e6-1		DERL1_ENST00000419562.2_Splice_Site|DERL1_ENST00000405944.3_Splice_Site|DERL1_ENST00000519018.1_Splice_Site|RP11-557C18.3_ENST00000521258.1_RNA|DERL1_ENST00000523036.1_Splice_Site	NM_001134671.2|NM_024295.5	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1						endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|intracellular transport of viral protein in host cell (GO:0019060)|response to unfolded protein (GO:0006986)|retrograde protein transport, ER to cytosol (GO:0030970)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)	MHC class I protein binding (GO:0042288)|receptor activity (GO:0004872)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AATAGCAGGCCTAGGATGGAA	0.413																																						ENST00000259512.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8						c.e6-1		derlin 1							95	98	97					8																	124033740		2203	4300	6503	SO:0001630	splice_region_variant	79139				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity	g.chr8:124033740C>T	BC002457	CCDS6337.1, CCDS47915.1	8q24.13	2012-02-01	2012-02-01		ENSG00000136986	ENSG00000136986			28454	protein-coding gene	gene with protein product		608813	"Der1-like domain family, member 1"			12975309, 15215855	Standard	NM_024295		Approved	MGC3067, PRO2577, FLJ13784, DER1, DER-1, derlin-1	uc003ypl.3	Q9BUN8	OTTHUMG00000165080	ENST00000259512.4:c.454-1G>A	8.37:g.124033740C>T						DERL1_ENST00000523036.1_Splice_Site|DERL1_ENST00000519018.1_Splice_Site|DERL1_ENST00000405944.3_Splice_Site|DERL1_ENST00000419562.2_Splice_Site|RP11-557C18.3_ENST00000521258.1_RNA		NM_001134671.1|NM_024295.4	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		6	754	-	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)							B3KW41|E9PH19	Splice_Site	SNP	ENST00000259512.4	37		CCDS6337.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013453	0.75161	.	.	ENSG00000136986	ENST00000259512;ENST00000405944;ENST00000419562;ENST00000519018;ENST00000523036	.	.	.	5.68	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7457	0.69488	0.0:0.9304:0.0:0.0696	.	.	.	.	.	-1	.	.	.	-	.	.	DERL1	124102921	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	5.667000	0.68067	1.409000	0.46915	0.655000	0.94253	.		0.413	DERL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381714.2	NM_024295	Intron	3	142	0	0	0	1	0	3	142					T	124033740	C	T	124033740	5	4	121	1	0	0	0	0	0	0	1	0	4446	695	24	2	314	2	DERL1	8	124033740	Splice_Site	SNP	C	TCGA-DJ-A3UP-01A-11D-A22D-08		124033740	22330282	16	2588											
KIAA1432	57589	broad.mit.edu	37	chr9	5754856	5754856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaaggagcaaaatatgatcGtgacaggtggcttagcctgg	13	6	0	2	rs373564292		TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr9:5754856G>A	ENST00000414202.2	+	15	1809	c.1618G>A	c.(1618-1620)Gtg>Atg	p.V540M	KIAA1432_ENST00000251879.6_Missense_Mutation_p.V540M|KIAA1432_ENST00000381532.2_Missense_Mutation_p.V461M|KIAA1432_ENST00000418622.3_Missense_Mutation_p.V461M|KIAA1432_ENST00000449720.2_Missense_Mutation_p.V424M	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		AAATATGATCGTGACAGGTGG	0.299													G|||	1	0.000199681	8e-04	0	5008	,	,		12720	0		0	False		,,,				2504	0					ENST00000414202.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45						c.(1618-1620)Gtg>Atg		KIAA1432		G	MET/VAL,MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	79	80	80		1618,1507,1618	5.1	1.0	9		80	0,8600		0,0,4300	no	missense,missense,missense	KIAA1432	NM_001135920.2,NM_001206557.1,NM_020829.3	21,21,21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	540/1166,503/1387,540/1424	5754856	1,13005	2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5754856G>A																												ENST00000414202.2:c.1618G>A	9.37:g.5754856G>A	ENSP00000416696:p.Val540Met					KIAA1432_ENST00000381532.2_Missense_Mutation_p.V461M|KIAA1432_ENST00000418622.3_Missense_Mutation_p.V461M|KIAA1432_ENST00000251879.6_Missense_Mutation_p.V540M|KIAA1432_ENST00000449720.2_Missense_Mutation_p.V424M	p.V540M	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	15	1809	+		Acute lymphoblastic leukemia(23;0.154)	540						Missense_Mutation	SNP	ENST00000414202.2	37	c.1618G>A	CCDS34982.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.0|24.0	4.480277|4.480277	0.84747|0.84747	2.27E-4|2.27E-4	0.0|0.0	ENSG00000107036|ENSG00000107036	ENST00000545641|ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720	.|T;T;T;T	.|0.51325	.|0.71;0.71;0.71;0.71	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72938|0.72938	0.3523|0.3523	M|M	0.86178|0.86178	2.8|2.8	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.74023	.|0.959;0.959;0.98;0.982	T|T	0.78206|0.78206	-0.2294|-0.2294	5|10	.|0.72032	.|D	.|0.01	-15.8557|-15.8557	18.6183|18.6183	0.91312|0.91312	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|424;461;540;540	.|B7ZM67;B2RN24;Q4ADV7;G5E932	.|.;.;RIC1_HUMAN;.	H|M	431|540;540;461;461;424	.|ENSP00000251879:V540M;ENSP00000416696:V540M;ENSP00000370943:V461M;ENSP00000402240:V461M	.|ENSP00000251879:V540M	R|V	+|+	2|1	0|0	KIAA1432|KIAA1432	5744856|5744856	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.184000|9.184000	0.94893|0.94893	2.379000|2.379000	0.81126|0.81126	0.650000|0.650000	0.86243|0.86243	CGT|GTG		0.299	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			3	84	0	0	0	1	0	3	84					A	5754856	G	A	5754856	3	1	121	1	0	0	0	0	1	0	0	0	8233	1145	40	1	1435	1	KIAA1432	9	5754856	Missense_Mutation	SNP	G	TCGA-DJ-A3UP-01A-11D-A22D-08		5754856	135458575	17	2589											
NR4A3	8013	broad.mit.edu	37	chr9	102590616	102590618	+	In_Frame_Del	DEL	CAC	CAC	-													cgcccagctaccatcaccatCaccaccaccaccaccaccac							TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr9:102590616_102590618delCAC	ENST00000395097.2	+	3	1021_1023	c.292_294delCAC	c.(292-294)cacdel	p.H108del	NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del|NR4A3_ENST00000330847.1_In_Frame_Del_p.H119del	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	108	Poly-His.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				ccatcaccatcaccaccaccacc	0.616			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	ENST00000330847.1				Dom	yes		9	9q22	8013	T	"nuclear receptor subfamily 4, group A, member 3 (NOR1)"			M	EWSR1		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)	0											c.(325-327)del		nuclear receptor subfamily 4, group A, member 3																																				SO:0001651	inframe_deletion	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102590616_102590618delCAC	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"Nuclear hormone receptors"	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.292_294delCAC	9.37:g.102590625_102590627delCAC	ENSP00000378531:p.His108del					NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del|NR4A3_ENST00000395097.2_In_Frame_Del_p.H108del	p.H119del			Q92570	NR4A3_HUMAN			2	369_371	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	108					A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	In_Frame_Del	DEL	ENST00000395097.2	37	c.325_327delCAC	CCDS6743.1																																																																																				0.616	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			10	64						10	64	---	---	---	---	-	102590618	CAC	-	102590616	7	5	121	1	0	1	0	1	0	0	0	0	10634	826	29	0	331	0	NR4A3	9	102590616	In_Frame_Del	DEL	CAC	TCGA-DJ-A3UP-01A-11D-A22D-08	96835760	102590616	38622815	18	2590											
MUC5B	727897	broad.mit.edu	37	chr11	1269764	1269764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagcccagggacggcacGcacgcctccagtgtggatca	12	16	1	0	rs201915227	byFrequency	TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr11:1269764G>A	ENST00000529681.1	+	31	11712	c.11654G>A	c.(11653-11655)cGc>cAc	p.R3885H	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.R3888H	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3885	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGGACGGCACGCACGCCTCCA	0.652																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(11662-11664)cGc>cAc		mucin 5B, oligomeric mucus/gel-forming							129	158	148					11																	1269764		2118	4215	6333	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1269764G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11654G>A	11.37:g.1269764G>A	ENSP00000436812:p.Arg3885His					MUC5B_ENST00000529681.1_Missense_Mutation_p.R3885H|RP11-532E4.2_ENST00000532061.2_RNA	p.R3888H			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	11721	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3885			11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.11663G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	2.123	-0.401065	0.04865	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.28255	1.62;1.8	2.76	-5.53	0.02552	.	.	.	.	.	T	0.19805	0.0476	L	0.42245	1.32	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.06405	0.001;0.002	T	0.15037	-1.0451	9	0.87932	D	0	.	2.7912	0.05388	0.1806:0.2765:0.3941:0.1488	.	4413;3888	A7Y9J9;E9PBJ0	.;.	H	3885;3888;3829;3790	ENSP00000436812:R3885H;ENSP00000415793:R3888H	ENSP00000343037:R3829H	R	+	2	0	MUC5B	1226340	0.150000	0.22732	0.000000	0.03702	0.003000	0.03518	0.881000	0.28173	-3.545000	0.00143	-1.188000	0.01700	CGC		0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		4	198	0	0	0	1	0	4	198					A	1269764	G	A	1269764	3	1	121	1	0	0	0	0	1	0	0	0	9979	1087	38	1	11785	1	MUC5B	11	1269764	Missense_Mutation	SNP	G	TCGA-DJ-A3UP-01A-11D-A22D-08		1269764	133736752	19	2591											
CTR9	9646	broad.mit.edu	37	chr11	10789616	10789620	+	Splice_Site	DEL	TATAG	TATAG	-													tttttaagagcacttgtttcTataggaaaagcgtcatcaag					rs374419778|rs559712136		TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr11:10789616_10789620delTATAG	ENST00000361367.2	+	15	2298		c.e15-1			NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component						cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CACTTGTTTCTATAGGAAAAGCGTC	0.38																																						ENST00000361367.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40						c.e15-1		CTR9, Paf1/RNA polymerase II complex component																																				SO:0001630	splice_region_variant	9646				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck		g.chr11:10789616_10789620delTATAG	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"Tetratricopeptide (TTC) repeat domain containing"	16850	protein-coding gene	gene with protein product		609366	"SH2 domain binding protein 1 (tetratricopeptide repeat containing)", "Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.1873-1TATAG>-	11.37:g.10789616_10789620delTATAG								NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN		all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	15	2298	+								D3DQV8|Q15015	Splice_Site	DEL	ENST00000361367.2	37		CCDS7805.1																																																																																				0.38	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633	Intron	27	59						27	59	---	---	---	---	-	10789620	TATAG	-	10789616	8	5	121	1	0	1	0	1	0	0	1	0	4024	1537	53	0		0	CTR9	11	10789616	Splice_Site	DEL	TATAG	TCGA-DJ-A3UP-01A-11D-A22D-08	9519852	10789616	124216900	20	2592											
NPAS4	266743	broad.mit.edu	37	chr11	66191839	66191839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggccagttgactgaaacctCggtcagaagctatgaagacc	11	10	1	5			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr11:66191839C>T	ENST00000311034.2	+	7	1654	c.1478C>T	c.(1477-1479)tCg>tTg	p.S493L		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	493					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.S493L(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						ACTGAAACCTCGGTCAGAAGC	0.577																																						ENST00000311034.2																			1	Substitution - Missense(1)	p.S493L(1)	skin(1)	breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						c.(1477-1479)tCg>tTg		neuronal PAS domain protein 4							228	220	223					11																	66191839		2200	4295	6495	SO:0001583	missense	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66191839C>T	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"Basic helix-loop-helix proteins"	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.1478C>T	11.37:g.66191839C>T	ENSP00000311196:p.Ser493Leu						p.S493L	NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN			7	1654	+			493					B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	c.1478C>T	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	C	5.105	0.205016	0.09704	.	.	ENSG00000174576	ENST00000311034	T	0.49139	0.79	4.56	3.63	0.41609	.	0.887861	0.09503	N	0.793320	T	0.28566	0.0707	N	0.08118	0	0.21553	N	0.999645	B	0.20261	0.043	B	0.12837	0.008	T	0.17684	-1.0361	10	0.37606	T	0.19	-0.4102	9.688	0.40111	0.2069:0.7931:0.0:0.0	.	493	Q8IUM7	NPAS4_HUMAN	L	493	ENSP00000311196:S493L	ENSP00000311196:S493L	S	+	2	0	NPAS4	65948415	0.091000	0.21658	0.037000	0.18230	0.113000	0.19764	3.889000	0.56212	1.103000	0.41568	0.563000	0.77884	TCG		0.577	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		16	499	0	0	0	1	0	16	499					T	66191839	C	T	66191839	3	4	121	1	0	0	0	0	1	0	0	0	10565	893	31	1	1504	1	NPAS4	11	66191839	Missense_Mutation	SNP	C	TCGA-DJ-A3UP-01A-11D-A22D-08	55402223	66191839	68814677	21	2593											
ANKRD13D	338692	broad.mit.edu	37	chr11	67069034	67069034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgtgctgggcatggagcGcaacgagcccctccgggacg	16	14	0	0	rs141392969		TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr11:67069034G>A	ENST00000447274.2	+	13	2338	c.1163G>A	c.(1162-1164)cGc>cAc	p.R388H	SSH3_ENST00000308298.7_5'Flank|ANKRD13D_ENST00000504236.1_3'UTR|ANKRD13D_ENST00000515828.1_Missense_Mutation_p.R125H|SSH3_ENST00000308127.4_5'Flank|SSH3_ENST00000376757.5_5'Flank|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.R475H|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.R388H|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.R388H			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	388						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)			GGCATGGAGCGCAACGAGCCC	0.662																																						ENST00000447274.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9						c.(1162-1164)cGc>cAc		ankyrin repeat domain 13 family, member D		G	HIS/ARG	0,4400		0,0,2200	55	55	55		1424	3.7	1.0	11	dbSNP_134	55	1,8589	1.2+/-3.3	0,1,4294	no	missense	ANKRD13D	NM_207354.2	29	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	475/606	67069034	1,12989	2200	4295	6495	SO:0001583	missense	338692							g.chr11:67069034G>A	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.1163G>A	11.37:g.67069034G>A	ENSP00000402616:p.Arg388His					ANKRD13D_ENST00000504236.1_3'UTR|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.R388H|ANKRD13D_ENST00000515828.1_Missense_Mutation_p.R125H|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.R388H|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.R475H	p.R388H			Q6ZTN6	AN13D_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		13	2338	+			388					D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Missense_Mutation	SNP	ENST00000447274.2	37	c.1163G>A		.	.	.	.	.	.	.	.	.	.	G	14.95	2.688343	0.48097	0.0	1.16E-4	ENSG00000172932	ENST00000447274;ENST00000511455;ENST00000308440;ENST00000514166;ENST00000515828	T;T;T;T;T	0.49139	1.42;1.6;1.42;1.42;0.79	4.71	3.71	0.42584	.	0.379294	0.27591	N	0.018681	T	0.46249	0.1383	L	0.55743	1.74	0.53688	D	0.999976	B;D;P	0.55800	0.14;0.973;0.915	B;P;B	0.47118	0.017;0.538;0.259	T	0.48007	-0.9072	10	0.56958	D	0.05	-28.8024	9.5358	0.39222	0.1768:0.0:0.8232:0.0	.	125;475;388	Q6ZTN6-2;Q6ZTN6-3;Q6ZTN6	.;.;AN13D_HUMAN	H	388;475;388;388;125	ENSP00000402616:R388H;ENSP00000427130:R475H;ENSP00000310874:R388H;ENSP00000444404:R388H;ENSP00000443977:R125H	ENSP00000310874:R388H	R	+	2	0	ANKRD13D	66825610	0.997000	0.39634	1.000000	0.80357	0.568000	0.35870	2.805000	0.47939	2.440000	0.82611	0.561000	0.74099	CGC		0.662	ANKRD13D-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000371067.2	NM_207354		3	131	0	0	0	1	0	3	131					A	67069034	G	A	67069034	3	1	121	1	0	0	0	0	1	0	0	0	644	1087	38	1	1474	1	ANKRD13D	11	67069034	Missense_Mutation	SNP	G	TCGA-DJ-A3UP-01A-11D-A22D-08	877195	67069034	67937482	22	2594											
GALNT8	26290	broad.mit.edu	37	chr12	4873152	4873152	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggatgaaaatgtctgcttggAtcagggacccgttccaggca	13	9	2	1			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr12:4873152A>T	ENST00000252318.2	+	9	1869	c.1532A>T	c.(1531-1533)gAt>gTt	p.D511V		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	511	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GTCTGCTTGGATCAGGGACCC	0.502																																					Colon(108;631 1558 7270 20097 39846)	ENST00000252318.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						c.(1531-1533)gAt>gTt		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)							189	169	176					12																	4873152		2203	4300	6503	SO:0001583	missense	26290					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:4873152A>T	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4130	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 8"	606250	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.1532A>T	12.37:g.4873152A>T	ENSP00000252318:p.Asp511Val						p.D511V	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN			9	1869	+			511			Ricin B-type lectin.		B2RU02	Missense_Mutation	SNP	ENST00000252318.2	37	c.1532A>T	CCDS8533.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.23|19.23	3.787537|3.787537	0.70337|0.70337	.|.	.|.	ENSG00000130035|ENSG00000130035	ENST00000252318|ENST00000542998;ENST00000535354	T|.	0.37752|.	1.18|.	4.43|4.43	4.43|4.43	0.53597|0.53597	Ricin B-related lectin (1);Ricin B lectin (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75184|0.75184	0.3815|0.3815	M|M	0.83384|0.83384	2.64|2.64	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.72075|.	0.976|.	T|T	0.77606|0.77606	-0.2525|-0.2525	10|5	0.87932|.	D|.	0|.	.|.	11.6872|11.6872	0.51494|0.51494	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	511|.	Q9NY28|.	GALT8_HUMAN|.	V|F	511|28;7	ENSP00000252318:D511V|.	ENSP00000252318:D511V|.	D|I	+|+	2|1	0|0	GALNT8|GALNT8	4743413|4743413	1.000000|1.000000	0.71417|0.71417	0.561000|0.561000	0.28357|0.28357	0.103000|0.103000	0.19146|0.19146	6.744000|6.744000	0.74854|0.74854	1.858000|1.858000	0.53909|0.53909	0.533000|0.533000	0.62120|0.62120	GAT|ATC		0.502	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417		9	109	0	0	0	1	0	9	109					T	4873152	A	T	4873152	3	4	121	1	0	0	0	0	1	0	0	0	6219	333	12	5	1566	5	GALNT8	12	4873152	Missense_Mutation	SNP	A	TCGA-DJ-A3UP-01A-11D-A22D-08		4873152	128978743	23	2595											
LRP1	4035	broad.mit.edu	37	chr12	57559912	57559912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcaagtgcgagaacaaccGgtgcatccccaaccgctggc	10	14	1	1			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr12:57559912G>A	ENST00000243077.3	+	17	3183	c.2717G>A	c.(2716-2718)cGg>cAg	p.R906Q		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	906	LDL-receptor class A 4. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)	GAGAACAACCGGTGCATCCCC	0.597																																						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.(2716-2718)cGg>cAg		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						103	84	90					12																	57559912		2203	4300	6503	SO:0001583	missense	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.chr12:57559912G>A	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.2717G>A	12.37:g.57559912G>A	ENSP00000243077:p.Arg906Gln						p.R906Q	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	17	3183	+			906			LDL-receptor class A 4.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.2717G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	37	6.333267	0.97480	.	.	ENSG00000123384	ENST00000243077	D	0.95588	-3.75	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000002	D	0.96253	0.8778	L	0.43923	1.385	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.94041	0.7309	10	0.20519	T	0.43	.	18.0982	0.89497	0.0:0.0:1.0:0.0	.	906	Q07954	LRP1_HUMAN	Q	906	ENSP00000243077:R906Q	ENSP00000243077:R906Q	R	+	2	0	LRP1	55846179	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.519000	0.98025	2.894000	0.99253	0.655000	0.94253	CGG		0.597	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		3	118	0	0	0	1	0	3	118					A	57559912	G	A	57559912	3	1	121	1	0	0	0	0	1	0	0	0	8951	1116	39	1	2783	1	LRP1	12	57559912	Missense_Mutation	SNP	G	TCGA-DJ-A3UP-01A-11D-A22D-08	52686760	57559912	76291983	24	2596											
TPTE2	93492	broad.mit.edu	37	chr13	20000569	20000569	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttttgtgattactcaccgaaGagaaaaactgcactttcaca	6	9	2	2	rs535760419		TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr13:20000569G>T	ENST00000400230.2	-	18	1435	c.1391C>A	c.(1390-1392)tCt>tAt	p.S464Y	TPTE2_ENST00000400103.2_Missense_Mutation_p.S353Y|TPTE2_ENST00000457266.2_Missense_Mutation_p.S353Y|TPTE2_ENST00000382975.4_Missense_Mutation_p.S424Y|TPTE2_ENST00000255310.6_Missense_Mutation_p.S387Y|TPTE2_ENST00000382977.4_Missense_Mutation_p.S464Y|TPTE2_ENST00000390680.2_Missense_Mutation_p.S387Y|TPTE2_ENST00000382978.1_Missense_Mutation_p.S424Y			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	464	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACTCACCGAAGAGAAAAACTG	0.363													g|||	1	0.000199681	0	0	5008	,	,		17172	0		0	False		,,,				2504	0.001					ENST00000400230.2																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1390-1392)tCt>tAt		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							118	110	113					13																	20000569		2203	4300	6503	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20000569G>T	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.1391C>A	13.37:g.20000569G>T	ENSP00000383089:p.Ser464Tyr					TPTE2_ENST00000382975.4_Missense_Mutation_p.S424Y|TPTE2_ENST00000457266.2_Missense_Mutation_p.S353Y|TPTE2_ENST00000390680.2_Missense_Mutation_p.S387Y|TPTE2_ENST00000255310.6_Missense_Mutation_p.S387Y|TPTE2_ENST00000382978.1_Missense_Mutation_p.S424Y|TPTE2_ENST00000382977.4_Missense_Mutation_p.S464Y|TPTE2_ENST00000400103.2_Missense_Mutation_p.S353Y	p.S464Y			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	18	1435	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	464			C2 tensin-type.		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.1391C>A	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	g	2.032	-0.422251	0.04734	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548	D;D;D;D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	2.06	1.17	0.20885	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.180613	0.49916	D	0.000122	T	0.81592	0.4855	L	0.54323	1.7	0.39786	D	0.97237	P;B;P	0.39131	0.661;0.209;0.586	P;B;B	0.45037	0.467;0.1;0.282	T	0.75334	-0.3354	9	.	.	.	-5.9594	6.6358	0.22881	0.0:0.2976:0.7024:0.0	.	353;387;464	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	Y	424;353;464;387;387;464;424;353;464	ENSP00000372438:S424Y;ENSP00000382974:S353Y;ENSP00000383089:S464Y;ENSP00000255310:S387Y;ENSP00000375098:S387Y;ENSP00000372437:S464Y;ENSP00000372435:S424Y;ENSP00000442218:S353Y	.	S	-	2	0	TPTE2	18898569	0.222000	0.23652	0.410000	0.26471	0.101000	0.19017	0.556000	0.23438	0.392000	0.25172	0.194000	0.17425	TCT		0.363	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		6	149	1	0	0.00010058	1	0.000102815	6	149					T	20000569	G	T	20000569	3	4	121	1	0	0	0	0	1	0	0	0	16428	942	33	4	189	4	TPTE2	13	20000569	Missense_Mutation	SNP	G	TCGA-DJ-A3UP-01A-11D-A22D-08		20000569	95169309	25	2597											
DACH1	1602	broad.mit.edu	37	chr13	72147128	72147128	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agagggtggggcatcatcatAaaaggaagttccagtcctat	12	7	2	1			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr13:72147128A>C	ENST00000359684.2	-	5	1304	c.1305T>G	c.(1303-1305)ttT>ttG	p.F435L	DACH1_ENST00000305425.4_Missense_Mutation_p.F383L|DACH1_ENST00000354591.4_Intron|DACH1_ENST00000313174.7_Intron			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	435					cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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 sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GCATCATCATAAAAGGAAGTT	0.398																																						ENST00000305425.4																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1147-1149)ttT>ttG		dachshund homolog 1 (Drosophila)							74	75	75					13																	72147128		1989	4198	6187	SO:0001583	missense	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72147128A>C	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"dachshund homolog (Drosophila)", "dachshund homolog 1 (Drosophila)"	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1305T>G	13.37:g.72147128A>C	ENSP00000352712:p.Phe435Leu					DACH1_ENST00000354591.4_Intron|DACH1_ENST00000359684.2_Missense_Mutation_p.F435L|DACH1_ENST00000313174.7_Intron	p.F383L	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	4	1571	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	433			Interaction with SIX6 and HDAC3 (By similarity).		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	ENST00000359684.2	37	c.1149T>G		.	.	.	.	.	.	.	.	.	.	A	22.0	4.224315	0.79576	.	.	ENSG00000165659	ENST00000305425;ENST00000359684;ENST00000377826	T;T	0.54866	0.81;0.55	5.6	3.16	0.36331	.	0.000000	0.85682	D	0.000000	T	0.68531	0.3011	M	0.74881	2.28	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.68610	-0.5363	10	0.72032	D	0.01	-12.2752	9.8001	0.40759	0.8581:0.0:0.1419:0.0	.	381	Q9UI36-2	.	L	383;435;435	ENSP00000304994:F383L;ENSP00000352712:F435L	ENSP00000304994:F383L	F	-	3	2	DACH1	71045129	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.830000	0.62745	0.494000	0.27859	0.482000	0.46254	TTT		0.398	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		35	31	0	0	0	1	0	35	31					C	72147128	A	C	72147128	3	2	121	1	0	0	0	0	1	0	0	0	4220	359	13	5	1009	5	DACH1	13	72147128	Missense_Mutation	SNP	A	TCGA-DJ-A3UP-01A-11D-A22D-08	52146559	72147128	43022750	26	2598											
IGDCC4	57722	broad.mit.edu	37	chr15	65684514	65684514	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcactttcttcttgagccGgacaggccccacatcccaag	7	16	3	1			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr15:65684514G>A	ENST00000352385.2	-	11	2289	c.2080C>T	c.(2080-2082)Cgg>Tgg	p.R694W		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	694	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TTCTTGAGCCGGACAGGCCCC	0.627																																						ENST00000352385.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(2080-2082)Cgg>Tgg		immunoglobulin superfamily, DCC subclass, member 4							33	40	37					15																	65684514		2197	4295	6492	SO:0001583	missense	57722					integral to membrane|plasma membrane		g.chr15:65684514G>A		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13770	protein-coding gene	gene with protein product	"likely ortholog of mouse neighbor of Punc E11"						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.2080C>T	15.37:g.65684514G>A	ENSP00000319623:p.Arg694Trp						p.R694W	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN			11	2289	-			694			Fibronectin type-III 3.		Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	c.2080C>T	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	G	9.768	1.171832	0.21704	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.58358	0.34	5.49	0.753	0.18404	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.117171	0.53938	D	0.000052	T	0.40473	0.1118	L	0.41492	1.28	0.36220	D	0.851904	B	0.21688	0.059	B	0.23018	0.043	T	0.42481	-0.9449	10	0.66056	D	0.02	-26.9183	9.1995	0.37249	0.0777:0.0:0.4054:0.5169	.	694	Q8TDY8	IGDC4_HUMAN	W	694;423	ENSP00000319623:R694W	ENSP00000319623:R694W	R	-	1	2	IGDCC4	63471567	0.885000	0.30320	0.466000	0.27168	0.375000	0.29983	0.392000	0.20801	0.243000	0.21327	-0.137000	0.14449	CGG		0.627	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		3	121	0	0	0	1	0	3	121					A	65684514	G	A	65684514	3	1	121	1	0	0	0	0	1	0	0	0	7569	1115	39	1	1712	1	IGDCC4	15	65684514	Missense_Mutation	SNP	G	TCGA-DJ-A3UP-01A-11D-A22D-08		65684514	36846878	27	2599											
IRX3	79191	broad.mit.edu	37	chr16	54318498	54318498	+	Frame_Shift_Del	DEL	G	G	-													gaagtcccagcaggtgcggaGgggcagagcccagcagggag							TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr16:54318498delG	ENST00000329734.3	-	2	2007	c.1295delC	c.(1294-1296)cctfs	p.P433fs		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	433	Pro-rich.				mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						CAGGTGCGGAGGGGCAGAGCC	0.751																																					GBM(143;1830 1866 4487 4646 37383)	ENST00000329734.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						c.(1294-1296)ctfs		iroquois homeobox 3							1	2	2					16																	54318498		934	2139	3073	SO:0001589	frameshift_variant	79191				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:54318498delG	U90308	CCDS10750.1	16q12.2	2011-06-20	2007-07-13		ENSG00000177508	ENSG00000177508		"Homeoboxes / TALE class"	14360	protein-coding gene	gene with protein product		612985					Standard	NM_024336		Approved	IRX-1	uc002eht.1	P78415	OTTHUMG00000133200	ENST00000329734.3:c.1295delC	16.37:g.54318498delG	ENSP00000331608:p.Pro433fs						p.P433fs	NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN			2	2007	-			433			Pro-rich.		Q7Z4A4|Q7Z4A5|Q8IVC6	Frame_Shift_Del	DEL	ENST00000329734.3	37	c.1295delC	CCDS10750.1																																																																																				0.751	IRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256910.2			2	4						2	4	---	---	---	---	-	54318498	G	-	54318498	7	5	121	1	0	1	0	1	0	0	0	0	7845	1000	35	0	222	0	IRX3	16	54318498	Frame_Shift_Del	DEL	G	TCGA-DJ-A3UP-01A-11D-A22D-08		54318498	36036255	28	2600											
DUS2L	54920	broad.mit.edu	37	chr16	68100529	68100529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcattgctgccatcgcaGttcatgggaggtgagtggtc	15	9	1	1			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr16:68100529G>A	ENST00000565263.1	+	10	1038	c.544G>A	c.(544-546)Gtt>Att	p.V182I	DUS2_ENST00000358896.6_Missense_Mutation_p.V182I|DUS2_ENST00000432752.1_Missense_Mutation_p.V147I	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2	182					negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)|flavin adenine dinucleotide binding (GO:0050660)|protein kinase inhibitor activity (GO:0004860)|tRNA dihydrouridine synthase activity (GO:0017150)										TGCCATCGCAGTTCATGGGAG	0.522																																						ENST00000565263.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						c.(544-546)Gtt>Att									191	179	183					16																	68100529		2198	4300	6498	SO:0001583	missense	0				tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr16:68100529G>A		CCDS10859.1, CCDS61970.1	16q22.1	2013-07-23	2013-07-23	2013-07-23	ENSG00000167264	ENSG00000167264			26014	protein-coding gene	gene with protein product	"SMM1 homolog (S. cerevisiae)"	609707	"dihydrouridine synthase 2-like (SMM1, S. cerevisiae)", "dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae)", "dihydrouridine synthase 2-like"	DUS2L		15994936, 22741570	Standard	NM_017803		Approved	FLJ20399, SMM1	uc002evj.4	Q9NX74	OTTHUMG00000137538	ENST00000565263.1:c.544G>A	16.37:g.68100529G>A	ENSP00000455229:p.Val182Ile					DUS2L_ENST00000358896.6_Missense_Mutation_p.V182I|DUS2L_ENST00000432752.1_Missense_Mutation_p.V147I	p.V182I	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)	10	1038	+		Ovarian(137;0.192)	182					A8K3G3|Q4H4D9	Missense_Mutation	SNP	ENST00000565263.1	37	c.544G>A	CCDS10859.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.592172	0.66219	.	.	ENSG00000167264	ENST00000358896;ENST00000432752	T;T	0.34859	1.34;1.34	6.03	5.07	0.68467	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	T	0.44138	0.1279	L	0.37850	1.14	0.58432	D	0.999999	D;P	0.64830	0.994;0.715	P;P	0.61477	0.889;0.601	T	0.05767	-1.0865	10	0.30078	T	0.28	-25.3739	12.708	0.57073	0.076:0.0:0.924:0.0	.	147;182	E7EUN9;Q9NX74	.;DUS2L_HUMAN	I	182;147	ENSP00000351769:V182I;ENSP00000409498:V147I	ENSP00000351769:V182I	V	+	1	0	DUS2L	66658030	1.000000	0.71417	0.977000	0.42913	0.932000	0.56968	6.606000	0.74159	2.868000	0.98415	0.555000	0.69702	GTT		0.522	DUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268869.2	NM_017803		8	272	0	0	0	1	0	8	272					A	68100529	G	A	68100529	3	1	121	1	0	0	0	0	1	0	0	0	4806	1029	36	2	574	2	DUS2L	16	68100529	Missense_Mutation	SNP	G	TCGA-DJ-A3UP-01A-11D-A22D-08	13782031	68100529	22254224	29	2601											
CYTSB	92521	broad.mit.edu	37	chr17	20107857	20107857	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggtggagaaaaggctgcGcttgagtcccaagttcggga	16	7	0	2			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr17:20107857G>A	ENST00000261503.5	+	4	546	c.495G>A	c.(493-495)gcG>gcA	p.A165A	SPECC1_ENST00000395529.3_Silent_p.A165A|SPECC1_ENST00000584527.1_5'Flank|SPECC1_ENST00000395527.4_Silent_p.A165A|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395522.2_Silent_p.A84A|SPECC1_ENST00000395530.2_Silent_p.A84A|SPECC1_ENST00000395525.3_Silent_p.A84A|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000472876.1_Intron	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	165				AALESQV -> VRLSPKF (in Ref. 1; BAB16440). {ECO:0000305}.	cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		AAAAGGCTGCGCTTGAGTCCC	0.458																																						ENST00000395530.2																			0				breast(1)|large_intestine(3)|ovary(4)	8						c.(250-252)gcG>gcA		sperm antigen with calponin homology and coiled-coil domains 1							81	89	86					17																	20107857		2203	4300	6503	SO:0001819	synonymous_variant	92521					nucleus		g.chr17:20107857G>A	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"sperm antigen HCMOGT 1", "cytokinesis and spindle organization B", "cytospin B"	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.495G>A	17.37:g.20107857G>A						SPECC1_ENST00000395529.3_Silent_p.A165A|SPECC1_ENST00000395522.2_Silent_p.A84A|SPECC1_ENST00000395527.4_Silent_p.A165A|SPECC1_ENST00000395525.3_Silent_p.A84A|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000261503.5_Silent_p.A165A|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000472876.1_Intron	p.A84A	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN		KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)	2	460	+			165					B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Silent	SNP	ENST00000261503.5	37	c.252G>A	CCDS32590.1																																																																																				0.458	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		3	101	0	0	0	1	0	3	101					A	20107857	G	A	20107857	2	1	121	1	0	0	0	0	0	0	0	1	4210	1074	38	1		1	CYTSB	17	20107857	Silent	SNP	G	TCGA-DJ-A3UP-01A-11D-A22D-08		20107857	61087353	30	2602											
MPP2	4355	broad.mit.edu	37	chr17	41960323	41960323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgcgcacagcatcgggaGgtacaggctggttgctgaat	14	10	0	1			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr17:41960323G>A	ENST00000461854.1	-	6	558	c.473C>T	c.(472-474)cCt>cTt	p.P158L	MPP2_ENST00000377184.3_Missense_Mutation_p.P151L|MPP2_ENST00000536246.1_Missense_Mutation_p.P123L|MPP2_ENST00000473246.1_5'UTR|MPP2_ENST00000518766.1_Missense_Mutation_p.P179L|MPP2_ENST00000269095.4_Missense_Mutation_p.P134L|MPP2_ENST00000520305.1_5'UTR|MPP2_ENST00000523501.1_Missense_Mutation_p.P123L			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	158					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		AGCATCGGGAGGTACAGGCTG	0.632																																						ENST00000269095.4																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29						c.(400-402)cCt>cTt		membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)							95	96	96					17																	41960323		2203	4300	6503	SO:0001583	missense	4355				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity	g.chr17:41960323G>A		CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"MAGUK p55 subfamily member 2", "discs large, homolog 2"	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.473C>T	17.37:g.41960323G>A	ENSP00000428286:p.Pro158Leu					MPP2_ENST00000461854.1_Missense_Mutation_p.P158L|MPP2_ENST00000377184.3_Missense_Mutation_p.P151L|MPP2_ENST00000536246.1_Missense_Mutation_p.P123L|MPP2_ENST00000523501.1_Missense_Mutation_p.P123L|MPP2_ENST00000520305.1_5'UTR|MPP2_ENST00000518766.1_Missense_Mutation_p.P179L|MPP2_ENST00000473246.1_5'UTR	p.P134L	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.12)	5	705	-		Breast(137;0.00314)	158			L27 2.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000461854.1	37	c.401C>T		.	.	.	.	.	.	.	.	.	.	g	12.97	2.096251	0.36952	.	.	ENSG00000108852	ENST00000377184;ENST00000269095;ENST00000461854;ENST00000523501;ENST00000536246;ENST00000518766;ENST00000523220;ENST00000520406;ENST00000523762;ENST00000523934;ENST00000520241	T;T;T;T;T;T;T;T;T;T	0.56776	2.39;2.39;2.39;2.39;2.39;2.39;0.83;0.85;0.85;0.44	4.11	4.11	0.48088	PDZ/DHR/GLGF (1);	.	.	.	.	T	0.57125	0.2032	M	0.81341	2.54	0.80722	D	1	B;B;B	0.23442	0.085;0.031;0.079	B;B;B	0.28385	0.022;0.089;0.049	T	0.60403	-0.7270	9	0.42905	T	0.14	.	14.3039	0.66373	0.0:0.0:1.0:0.0	.	179;158;151	E7EV80;Q14168;Q14168-3	.;MPP2_HUMAN;.	L	151;134;158;123;123;179;117;134;123;134;140	ENSP00000366389:P151L;ENSP00000269095:P134L;ENSP00000428286:P158L;ENSP00000430540:P123L;ENSP00000438012:P123L;ENSP00000428182:P179L;ENSP00000428468:P117L;ENSP00000428354:P134L;ENSP00000430797:P134L;ENSP00000428938:P140L	ENSP00000269095:P134L	P	-	2	0	MPP2	39315849	1.000000	0.71417	0.315000	0.25238	0.383000	0.30230	6.395000	0.73228	2.283000	0.76528	0.650000	0.86243	CCT		0.632	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2	NM_005374		4	278	0	0	0	1	0	4	278					A	41960323	G	A	41960323	3	1	121	1	0	0	0	0	1	0	0	0	9734	1000	35	2	1293	2	MPP2	17	41960323	Missense_Mutation	SNP	G	TCGA-DJ-A3UP-01A-11D-A22D-08	21852466	41960323	39234887	31	2603											
DGKE	8526	broad.mit.edu	37	chr17	54926136	54926136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccaatacattgggttgggGtacaggttatgctggagaaa	13	5	0	1			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr17:54926136G>A	ENST00000284061.3	+	6	1148	c.968G>A	c.(967-969)gGt>gAt	p.G323D		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	323	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				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)					TTGGGTTGGGGTACAGGTTAT	0.413																																						ENST00000284061.3																			0				breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						c.(967-969)gGt>gAt		diacylglycerol kinase, epsilon 64kDa							137	132	134					17																	54926136		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.chr17:54926136G>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.968G>A	17.37:g.54926136G>A	ENSP00000284061:p.Gly323Asp						p.G323D	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN			6	1148	+	Breast(9;3.59e-07)		323			DAGKc.		Q8TBM4|Q9UKQ3	Missense_Mutation	SNP	ENST00000284061.3	37	c.968G>A	CCDS11590.1	.	.	.	.	.	.	.	.	.	.	G	32	5.152005	0.94645	.	.	ENSG00000153933	ENST00000284061	T	0.44881	0.91	5.59	5.59	0.84812	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.70622	0.3245	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75019	-0.3465	10	0.87932	D	0	.	19.5907	0.95509	0.0:0.0:1.0:0.0	.	323;323	A1L4Q0;P52429	.;DGKE_HUMAN	D	323	ENSP00000284061:G323D	ENSP00000284061:G323D	G	+	2	0	DGKE	52281135	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	9.019000	0.93662	2.642000	0.89623	0.563000	0.77884	GGT		0.413	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440601.1	NM_003647		3	137	0	0	0	1	0	3	137					A	54926136	G	A	54926136	3	1	121	1	0	0	0	0	1	0	0	0	4468	1261	44	2	986	2	DGKE	17	54926136	Missense_Mutation	SNP	G	TCGA-DJ-A3UP-01A-11D-A22D-08	12965813	54926136	26269074	32	2604											
ELAVL1	1994	broad.mit.edu	37	chr19	8028430	8028430	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcccccaggcggtagccGttcaggctggctatggccat	13	13	1	0			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr19:8028430G>A	ENST00000407627.2	-	6	1047	c.918C>T	c.(916-918)aaC>aaT	p.N306N	ELAVL1_ENST00000351593.5_Silent_p.N333N|ELAVL1_ENST00000596459.1_Silent_p.N306N	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	306	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|multicellular organismal development (GO:0007275)|positive regulation of translation (GO:0045727)|regulation of stem cell maintenance (GO:2000036)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|double-stranded RNA binding (GO:0003725)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GGCGGTAGCCGTTCAGGCTGG	0.453																																						ENST00000407627.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(916-918)aaC>aaT		ELAV like RNA binding protein 1							98	98	98					19																	8028430		2203	4300	6503	SO:0001819	synonymous_variant	1994				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding	g.chr19:8028430G>A	U38175	CCDS12193.1	19p13.2	2013-10-03	2013-10-03			ENSG00000066044		"RNA binding motif (RRM) containing"	3312	protein-coding gene	gene with protein product	"embryonic lethal, abnormal vision, drosophila, homolog-like 1", "Hu antigen R"	603466	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)"	HUR		8626503, 9003489	Standard	NM_001419		Approved	HuR, Hua, MelG	uc002mjb.3	Q15717		ENST00000407627.2:c.918C>T	19.37:g.8028430G>A						ELAVL1_ENST00000596459.1_Silent_p.N306N|ELAVL1_ENST00000351593.5_Silent_p.N333N	p.N306N	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN			6	1047	-			306			RRM 3.		B4DVB8|Q53XN6|Q9BTT1	Silent	SNP	ENST00000407627.2	37	c.918C>T	CCDS12193.1																																																																																				0.453	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461494.3	NM_001419		3	106	0	0	0	1	0	3	106					A	8028430	G	A	8028430	2	1	121	1	0	0	0	0	0	0	0	1	5049	1136	40	1		1	ELAVL1	19	8028430	Silent	SNP	G	TCGA-DJ-A3UP-01A-11D-A22D-08		8028430	51100553	33	2605											
CRTC1	23373	broad.mit.edu	37	chr19	18870826	18870826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttttcccagcatcttccCgtctgccgaccaggaaaaca	7	16	2	0			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr19:18870826C>T	ENST00000321949.8	+	8	700	c.674C>T	c.(673-675)cCg>cTg	p.P225L	CRTC1_ENST00000601916.1_Missense_Mutation_p.P150L|CRTC1_ENST00000338797.6_Missense_Mutation_p.P241L|CRTC1_ENST00000594658.1_Missense_Mutation_p.P184L	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						AGCATCTTCCCGTCTGCCGAC	0.672																																						ENST00000338797.6																		CRTC1/MAML2(516)	0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						c.(721-723)cCg>cTg		CREB regulated transcription coactivator 1							85	98	94					19																	18870826		2203	4300	6503	SO:0001583	missense	23373				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	g.chr19:18870826C>T	AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"transducer of regulated cAMP response element-binding protein"	607536	"mucoepidermoid carcinoma translocated 1"	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.674C>T	19.37:g.18870826C>T	ENSP00000323332:p.Pro225Leu					CRTC1_ENST00000594658.1_Missense_Mutation_p.P184L|CRTC1_ENST00000321949.8_Missense_Mutation_p.P225L|CRTC1_ENST00000601916.1_Missense_Mutation_p.P150L	p.P241L	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN			9	747	+			225						Missense_Mutation	SNP	ENST00000321949.8	37	c.722C>T	CCDS32963.1	.	.	.	.	.	.	.	.	.	.	c	17.37	3.373299	0.61624	.	.	ENSG00000105662	ENST00000262813;ENST00000338797;ENST00000321949	T;T	0.71817	-0.6;-0.6	4.29	4.29	0.51040	Transducer of regulated CREB activity, middle domain (1);	0.000000	0.85682	D	0.000000	D	0.85579	0.5729	M	0.86740	2.835	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.989;0.992;0.994	D	0.88879	0.3338	10	0.87932	D	0	-11.6869	15.7628	0.78101	0.0:1.0:0.0:0.0	.	225;241;225	Q6UUV9-3;Q6UUV9-2;Q6UUV9	.;.;CRTC1_HUMAN	L	225;241;225	ENSP00000345001:P241L;ENSP00000323332:P225L	ENSP00000262813:P225L	P	+	2	0	CRTC1	18731826	1.000000	0.71417	0.925000	0.36789	0.071000	0.16799	5.760000	0.68793	1.961000	0.56991	0.457000	0.33378	CCG		0.672	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		5	291	0	0	0	1	0	5	291					T	18870826	C	T	18870826	3	4	121	1	0	0	0	0	1	0	0	0	3899	652	23	1	756	1	CRTC1	19	18870826	Missense_Mutation	SNP	C	TCGA-DJ-A3UP-01A-11D-A22D-08	10842396	18870826	40258157	34	2606											
PRMT1	3276	broad.mit.edu	37	chr19	50180555	50180555	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aagatggcggcagccgaggcCgcgaactgcatcatggaggt	16	10	1	1	rs576649607	byFrequency	TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr19:50180555C>G	ENST00000391851.4	+	1	147	c.18C>G	c.(16-18)gcC>gcG	p.A6A	PRMT1_ENST00000532489.1_Intron|PRMT1_ENST00000454376.2_Silent_p.A6A	NM_198318.4	NP_938074.2	Q99873	ANM1_HUMAN	protein arginine methyltransferase 1	0					cell surface receptor signaling pathway (GO:0007166)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of megakaryocyte differentiation (GO:0045653)|neuron projection development (GO:0031175)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|protein methylation (GO:0006479)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|identical protein binding (GO:0042802)|methyltransferase activity (GO:0008168)|N-methyltransferase activity (GO:0008170)|poly(A) RNA binding (GO:0044822)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		CAGCCGAGGCCGCGAACTGCA	0.667													c|||	2	0.000399361	0.0015	0	5008	,	,		11476	0		0	False		,,,				2504	0					ENST00000391851.4																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12						c.(16-18)gcC>gcG		protein arginine methyltransferase 1							31	45	40					19																	50180555		1985	4182	6167	SO:0001819	synonymous_variant	0					cytoplasm	protein methyltransferase activity	g.chr19:50180555C>G	D66904	CCDS42592.1, CCDS46145.1, CCDS74425.1	19q13	2014-06-12	2006-02-16	2006-02-16	ENSG00000126457	ENSG00000126457	2.1.1.125	"Protein arginine methyltransferases"	5187	protein-coding gene	gene with protein product		602950	"HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 2", "HMT1 hnRNP methyltransferase-like 2 (S. cerevisiae)"	HRMT1L2		9545638	Standard	NM_001207042		Approved	HCP1, ANM1	uc010enf.2	Q99873	OTTHUMG00000167568	ENST00000391851.4:c.18C>G	19.37:g.50180555C>G						PRMT1_ENST00000532489.1_Intron|PRMT1_ENST00000454376.2_Silent_p.A6A	p.A6A	NM_198318.4	NP_938074.2	Q8WUW5	Q8WUW5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)	1	147	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	5					B4E3C3|G5E9B6|Q15529|Q2VP93|Q6LEU5|Q8WUW5|Q99872|Q99874|Q9NZ04|Q9NZ05|Q9NZ06	Silent	SNP	ENST00000391851.4	37	c.18C>G	CCDS42592.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.440678	0.25900	.	.	ENSG00000126457	ENST00000524771	.	.	.	4.97	3.94	0.45596	.	.	.	.	.	T	0.59418	0.2192	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56631	-0.7947	4	.	.	.	1.9712	9.1163	0.36760	0.0:0.9013:0.0:0.0987	.	.	.	.	R	2	.	.	P	+	2	0	PRMT1	54872367	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	0.689000	0.25437	1.323000	0.45263	-0.136000	0.14681	CCG		0.667	PRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395065.1	NM_001536		23	37	0	0	0	1	0	23	37					G	50180555	C	G	50180555	2	3	121	1	0	0	0	0	0	0	0	1	12535	639	23	4		4	PRMT1	19	50180555	Silent	SNP	C	TCGA-DJ-A3UP-01A-11D-A22D-08	31309729	50180555	8948428	35	2607											
POTEH	23784	broad.mit.edu	37	chr22	16287731	16287731	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcctgagtgtcttcatagcaGaatcgtcgtggtctccagaa	10	10	3	3			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr22:16287731G>A	ENST00000343518.6	-	1	206	c.155C>T	c.(154-156)tCt>tTt	p.S52F		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	52										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CTTCATAGCAGAATCGTCGTG	0.612																																						ENST00000343518.6																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(154-156)tCt>tTt		POTE ankyrin domain family, member H							98	114	109					22																	16287731		1720	3276	4996	SO:0001583	missense	23784							g.chr22:16287731G>A	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	133	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 7"	608913	"actin, beta-like 1", "ANKRD26-like family C, member 3"	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.155C>T	22.37:g.16287731G>A	ENSP00000340610:p.Ser52Phe						p.S52F	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN			1	206	-			52					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.155C>T	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	8.795	0.931580	0.18131	.	.	ENSG00000198062	ENST00000359587;ENST00000343518;ENST00000355872	T	0.42131	0.98	.	.	.	.	.	.	.	.	T	0.45458	0.1343	L	0.27053	0.805	0.09310	N	1	D	0.69078	0.997	D	0.76071	0.987	T	0.31668	-0.9935	7	0.87932	D	0	.	.	.	.	.	52	Q6S545	POTEH_HUMAN	F	52	ENSP00000340610:S52F	ENSP00000340610:S52F	S	-	2	0	POTEH	14667731	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	0.224000	0.17738	0.073000	0.16731	0.074000	0.15403	TCT		0.612	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		66	847	0	0	0	1	0	66	847					A	16287731	G	A	16287731	3	1	121	1	0	0	0	0	1	0	0	0	12267	942	33	2	1522	2	POTEH	22	16287731	Missense_Mutation	SNP	G	TCGA-DJ-A3UP-01A-11D-A22D-08		16287731	35016835	36	2608											
GGT1	2678	broad.mit.edu	37	chr22	25024063	25024063	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgcagggaagcagccgctctCgtccatgtgcccgacgatca	12	15	2	0			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr22:25024063C>T	ENST00000400382.1	+	14	2107	c.1352C>T	c.(1351-1353)tCg>tTg	p.S451L	GGT1_ENST00000400383.1_Missense_Mutation_p.S451L|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000404532.1_Missense_Mutation_p.S107L|GGT1_ENST00000403838.1_Missense_Mutation_p.S107L|GGT1_ENST00000248923.4_Missense_Mutation_p.S451L|GGT1_ENST00000406383.2_Missense_Mutation_p.S451L|GGT1_ENST00000404223.1_Missense_Mutation_p.S107L|GGT1_ENST00000400380.1_Missense_Mutation_p.S451L|GGT1_ENST00000401885.1_Missense_Mutation_p.S107L|GGT1_ENST00000404920.1_Missense_Mutation_p.S107L			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	451	Glutamate binding.				arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CAGCCGCTCTCGTCCATGTGC	0.692																																						ENST00000400382.1																			0				breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40						c.(1351-1353)tCg>tTg		gamma-glutamyltransferase 1	Glutathione(DB00143)						33	36	35					22																	25024063		2203	4286	6489	SO:0001583	missense	2678				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding	g.chr22:25024063C>T	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"CD molecules", "Gamma-glutamyltransferases"	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.1352C>T	22.37:g.25024063C>T	ENSP00000383232:p.Ser451Leu					GGT1_ENST00000404532.1_Missense_Mutation_p.S107L|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000400383.1_Missense_Mutation_p.S451L|GGT1_ENST00000401885.1_Missense_Mutation_p.S107L|GGT1_ENST00000248923.4_Missense_Mutation_p.S451L|GGT1_ENST00000404920.1_Missense_Mutation_p.S107L|GGT1_ENST00000404223.1_Missense_Mutation_p.S107L|GGT1_ENST00000403838.1_Missense_Mutation_p.S107L|GGT1_ENST00000400380.1_Missense_Mutation_p.S451L|GGT1_ENST00000406383.2_Missense_Mutation_p.S451L	p.S451L			P19440	GGT1_HUMAN			14	2107	+			451					Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	ENST00000400382.1	37	c.1352C>T	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	.	15.32	2.799920	0.50208	.	.	ENSG00000100031	ENST00000248923;ENST00000412658;ENST00000400382;ENST00000400383;ENST00000400380;ENST00000406383;ENST00000401885;ENST00000404532;ENST00000403838;ENST00000404223;ENST00000404920	T;T;T;T;T;T;T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66;2.66;2.66;2.66;2.66;2.66;2.66	2.79	2.79	0.32731	.	0.000000	0.85682	D	0.000000	T	0.52933	0.1765	H	0.99498	4.595	0.49582	D	0.999806	D	0.61080	0.989	D	0.63192	0.912	T	0.75113	-0.3432	10	0.59425	D	0.04	-11.9218	13.7694	0.63015	0.0:1.0:0.0:0.0	.	451	P19440	GGT1_HUMAN	L	451;451;451;451;451;451;107;107;107;107;107	ENSP00000248923:S451L;ENSP00000393537:S451L;ENSP00000383232:S451L;ENSP00000383233:S451L;ENSP00000383231:S451L;ENSP00000385975:S451L;ENSP00000384381:S107L;ENSP00000385445:S107L;ENSP00000384820:S107L;ENSP00000385016:S107L;ENSP00000385001:S107L	ENSP00000248923:S451L	S	+	2	0	GGT1	23354063	1.000000	0.71417	0.277000	0.24703	0.174000	0.22865	7.128000	0.77217	1.872000	0.54250	0.454000	0.30748	TCG		0.692	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	NM_013430		3	127	0	0	0	1	0	3	127					T	25024063	C	T	25024063	3	4	121	1	0	0	0	0	1	0	0	0	6361	893	31	1	1390	1	GGT1	22	25024063	Missense_Mutation	SNP	C	TCGA-DJ-A3UP-01A-11D-A22D-08	8736332	25024063	26280503	37	2609											
KHDRBS1	10657	broad.mit.edu	37	chr1	32498905	32498905	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatgctcttatggcccatgcCatggaggaagtcaagaaatt	10	8	2	1			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr1:32498905C>A	ENST00000327300.7	+	4	908	c.741C>A	c.(739-741)gcC>gcA	p.A247A	KHDRBS1_ENST00000492989.1_Silent_p.A208A|KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1			KH domain containing, RNA binding, signal transduction associated 1											endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGGCCCATGCCATGGAGGAAG	0.448																																					Ovarian(173;401 1982 12359 31110 42403)	ENST00000327300.7																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14						c.(739-741)gcC>gcA		KH domain containing, RNA binding, signal transduction associated 1							120	115	117					1																	32498905		2203	4300	6503	SO:0001819	synonymous_variant	10657				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:32498905C>A	U78971	CCDS350.1, CCDS60067.1	1p32	2008-07-18			ENSG00000121774	ENSG00000121774			18116	protein-coding gene	gene with protein product	"GAP-associated tyrosine phosphoprotein p62 (Sam68)"	602489				1374686, 10564820	Standard	NM_006559		Approved	Sam68, p62, FLJ34027	uc001bub.4	Q07666	OTTHUMG00000003921	ENST00000327300.7:c.741C>A	1.37:g.32498905C>A						KHDRBS1_ENST00000307714.8_3'UTR|KHDRBS1_ENST00000492989.1_Silent_p.A208A	p.A247A	NM_006559.1	NP_006550.1	Q07666	KHDR1_HUMAN			4	908	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	247						Silent	SNP	ENST00000327300.7	37	c.741C>A	CCDS350.1																																																																																				0.448	KHDRBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011199.4	NM_006559		3	65	1	0	1	1	1	3	65					A	32498905	C	A	32498905	2	1	122	1	0	0	0	0	0	0	0	1	8146	581	21	4		4	KHDRBS1	1	32498905	Silent	SNP	C	TCGA-DJ-A3UQ-01A-11D-A22D-08		32498905	216751716	1	2610											
ADSS	159	broad.mit.edu	37	chr1	244582071	244582071	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aataggcttacattgtcttgCtctgtaggaaaggcaccaat	9	8	2	0			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr1:244582071C>T	ENST00000366535.3	-	9	1252	c.936G>A	c.(934-936)gaG>gaA	p.E312E	ADSS_ENST00000462358.1_5'Flank	NM_001126.3	NP_001117.2			adenylosuccinate synthase											endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)			CATTGTCTTGCTCTGTAGGAA	0.338																																						ENST00000366535.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(934-936)gaG>gaA		adenylosuccinate synthase	L-Aspartic Acid(DB00128)						92	85	87					1																	244582071		2203	4300	6503	SO:0001819	synonymous_variant	159				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	g.chr1:244582071C>T	BC012356	CCDS1624.1	1q44	2008-02-05			ENSG00000035687	ENSG00000035687	6.3.4.4		292	protein-coding gene	gene with protein product		103060				2004783, 1592113	Standard	NM_001126		Approved		uc001iaj.3	P30520	OTTHUMG00000040102	ENST00000366535.3:c.936G>A	1.37:g.244582071C>T							p.E312E	NM_001126.3	NP_001117.2	P30520	PURA2_HUMAN	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		9	1252	-	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	312						Silent	SNP	ENST00000366535.3	37	c.936G>A	CCDS1624.1																																																																																				0.338	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096697.1	NM_001126		4	67	0	0	0	1	0	4	67					T	244582071	C	T	244582071	2	4	122	1	0	0	0	0	0	0	0	1	347	796	28	2		2	ADSS	1	244582071	Silent	SNP	C	TCGA-DJ-A3UQ-01A-11D-A22D-08	212083166	244582071	4668550	2	2611											
CCDC142	84865	broad.mit.edu	37	chr2	74709264	74709264	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtcaagaggcggagcacaCgggacgtggggaaaggacgt	18	9	1	1	rs145805017		TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr2:74709264C>T	ENST00000393965.3	-	1	1097	c.701G>A	c.(700-702)cGt>cAt	p.R234H	CCDC142_ENST00000471713.1_5'UTR|TTC31_ENST00000410003.1_5'Flank|TTC31_ENST00000442235.2_5'Flank|TTC31_ENST00000233623.5_5'Flank|CCDC142_ENST00000290418.4_Missense_Mutation_p.R234H	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	234										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						GCGGAGCACACGGGACGTGGG	0.662																																						ENST00000393965.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						c.(700-702)cGt>cAt		coiled-coil domain containing 142		C	HIS/ARG	0,4402		0,0,2201	31	40	37		701	4.4	1.0	2	dbSNP_134	37	1,8597		0,1,4298	no	missense	CCDC142	NM_032779.3	29	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	234/744	74709264	1,12999	2201	4299	6500	SO:0001583	missense	84865							g.chr2:74709264C>T	AK075543	CCDS1945.1	2p13.1	2008-02-05			ENSG00000135637	ENSG00000135637			25889	protein-coding gene	gene with protein product							Standard	NM_032779		Approved	FLJ14397	uc002slq.3	Q17RM4	OTTHUMG00000129962	ENST00000393965.3:c.701G>A	2.37:g.74709264C>T	ENSP00000377537:p.Arg234His					CCDC142_ENST00000471713.1_5'UTR|CCDC142_ENST00000290418.4_Missense_Mutation_p.R234H	p.R234H	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN			1	1097	-			234					B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	Missense_Mutation	SNP	ENST00000393965.3	37	c.701G>A		.	.	.	.	.	.	.	.	.	.	C	20.9	4.070827	0.76301	0.0	1.16E-4	ENSG00000135637	ENST00000393965;ENST00000290418	D;D	0.83755	-1.76;-1.76	4.4	4.4	0.53042	.	0.000000	0.52532	D	0.000078	D	0.88658	0.6496	M	0.72118	2.19	0.36289	D	0.856307	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.63703	0.917;0.917;0.917	D	0.91794	0.5446	10	0.87932	D	0	-12.2002	12.6538	0.56776	0.0:1.0:0.0:0.0	.	234;234;234	Q17RM4;Q17RM4-2;Q17RM4-3	CC142_HUMAN;.;.	H	234	ENSP00000377537:R234H;ENSP00000290418:R234H	ENSP00000290418:R234H	R	-	2	0	CCDC142	74562772	0.970000	0.33590	0.993000	0.49108	0.643000	0.38383	2.457000	0.45005	2.438000	0.82558	0.561000	0.74099	CGT		0.662	CCDC142-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000328391.1	NM_032779		3	63	0	0	0	1	0	3	63					T	74709264	C	T	74709264	3	4	122	1	0	0	0	0	1	0	0	0	2776	536	19	1	1566	1	CCDC142	2	74709264	Missense_Mutation	SNP	C	TCGA-DJ-A3UQ-01A-11D-A22D-08		74709264	168490109	3	2612											
LRP2	4036	broad.mit.edu	37	chr2	170058316	170058316	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattgtagtaatcacagcgGtaagagtattggacacatcg	10	7	2	1			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr2:170058316G>A	ENST00000263816.3	-	44	8559	c.8274C>T	c.(8272-8274)taC>taT	p.Y2758Y		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2758	LDL-receptor class A 17. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	AATCACAGCGGTAAGAGTATT	0.493																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(8272-8274)taC>taT		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						151	129	136					2																	170058316		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170058316G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.8274C>T	2.37:g.170058316G>A							p.Y2758Y	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	44	8559	-			2758			LDL-receptor class A 17.		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.8274C>T	CCDS2232.1																																																																																				0.493	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		3	130	0	0	0	1	0	3	130					A	170058316	G	A	170058316	2	1	122	1	0	0	0	0	0	0	0	1	8956	1256	44	2		2	LRP2	2	170058316	Silent	SNP	G	TCGA-DJ-A3UQ-01A-11D-A22D-08	95349052	170058316	73141057	4	2613											
NPHP3	27031	broad.mit.edu	37	chr3	132423069	132423069	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcccaactcatgggctgaAttagaagcctgctgaaaagt	9	9	1	3			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr3:132423069A>G	ENST00000337331.5	-	9	1583	c.1497T>C	c.(1495-1497)aaT>aaC	p.N499N	NPHP3_ENST00000326682.8_Silent_p.N499N|NPHP3_ENST00000476742.1_5'Flank	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	499					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CATGGGCTGAATTAGAAGCCT	0.388																																						ENST00000326682.8																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1495-1497)aaT>aaC		nephronophthisis 3 (adolescent)							180	181	181					3																	132423069		2203	4300	6503	SO:0001819	synonymous_variant	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132423069A>G	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"Tetratricopeptide (TTC) repeat domain containing"	7907	protein-coding gene	gene with protein product	"nephrocystin-3", "Meckel syndrome, type 7", "cilia and flagella associated protein 31"	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.1497T>C	3.37:g.132423069A>G						NPHP3_ENST00000337331.5_Silent_p.N499N	p.N499N			Q7Z494	NPHP3_HUMAN			9	1573	-			499					Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Silent	SNP	ENST00000337331.5	37	c.1497T>C	CCDS3078.1																																																																																				0.388	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		3	172	0	0	0	1	0	3	172					G	132423069	A	G	132423069	2	3	122	1	0	0	0	0	0	0	0	1	10580	98	4	3		3	NPHP3	3	132423069	Silent	SNP	A	TCGA-DJ-A3UQ-01A-11D-A22D-08		132423069	65599361	5	2614											
UNC5C	8633	broad.mit.edu	37	chr4	96140272	96140272	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgaggggacagcttggacGtaaactcagagaggtcatct	13	8	4	2			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr4:96140272G>A	ENST00000453304.1	-	9	1841	c.1493C>T	c.(1492-1494)aCg>aTg	p.T498M	UNC5C_ENST00000506749.1_Missense_Mutation_p.T517M	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	498					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)		CAGCTTGGACGTAAACTCAGA	0.512																																						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.(1492-1494)aCg>aTg		unc-5 homolog C (C. elegans)							191	168	176					4																	96140272		2203	4300	6503	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96140272G>A	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.1493C>T	4.37:g.96140272G>A	ENSP00000406022:p.Thr498Met					UNC5C_ENST00000506749.1_Missense_Mutation_p.T517M	p.T498M	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	9	1841	-		Hepatocellular(203;0.114)	498					Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.1493C>T	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.728366	0.30593	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749	T;T;T	0.57107	0.75;0.42;0.43	5.45	5.45	0.79879	.	0.420838	0.28052	N	0.016782	T	0.38134	0.1029	N	0.16368	0.405	0.80722	D	1	B;P;P	0.49358	0.009;0.923;0.768	B;B;B	0.38156	0.004;0.266;0.178	T	0.26849	-1.0091	10	0.32370	T	0.25	.	19.2996	0.94138	0.0:0.0:1.0:0.0	.	498;517;498	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	M	498;457;517;517	ENSP00000406022:T498M;ENSP00000426924:T517M;ENSP00000426153:T517M	ENSP00000328673:T457M	T	-	2	0	UNC5C	96359295	1.000000	0.71417	0.119000	0.21687	0.033000	0.12548	9.623000	0.98386	2.555000	0.86185	0.655000	0.94253	ACG		0.512	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		4	180	0	0	0	1	0	4	180					A	96140272	G	A	96140272	3	1	122	1	0	0	0	0	1	0	0	0	16990	1145	40	1	1334	1	UNC5C	4	96140272	Missense_Mutation	SNP	G	TCGA-DJ-A3UQ-01A-11D-A22D-08		96140272	95014004	6	2615											
MTTP	4547	broad.mit.edu	37	chr4	100532612	100532612	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtcttcacggtagccaggTaactcacttctcatggattt	9	10	4	0			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr4:100532612T>C	ENST00000265517.5	+	14	2192		c.e14+2		RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000457717.1_Splice_Site|MTTP_ENST00000511045.1_Splice_Site			P55157	MTP_HUMAN	microsomal triglyceride transfer protein						cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	GGTAGCCAGGTAACTCACTTC	0.398																																						ENST00000457717.1																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57						c.e15+2		microsomal triglyceride transfer protein	Hesperetin(DB01094)						132	122	125					4																	100532612		2203	4300	6503	SO:0001630	splice_region_variant	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100532612T>C		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"microsomal triglyceride transfer protein (large polypeptide, 88kD)", "microsomal triglyceride transfer protein (large polypeptide, 88kDa)"	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.1989+2T>C	4.37:g.100532612T>C						MTTP_ENST00000265517.5_Splice_Site|MTTP_ENST00000511045.1_Splice_Site|RP11-766F14.1_ENST00000508578.1_RNA		NM_000253.2	NP_000244.2	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	15	2245	+								A8K428|Q08AM4|Q6P5T3	Splice_Site	SNP	ENST00000265517.5	37		CCDS3651.1	.	.	.	.	.	.	.	.	.	.	T	14.38	2.518726	0.44763	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8181	0.78621	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MTTP	100751635	1.000000	0.71417	1.000000	0.80357	0.268000	0.26511	6.995000	0.76257	2.139000	0.66308	0.533000	0.62120	.		0.398	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3		Intron	4	145	0	0	0	1	0	4	145					C	100532612	T	C	100532612	5	2	122	1	0	0	0	0	0	0	1	0	9964	1652	57	3	2045	3	MTTP	4	100532612	Splice_Site	SNP	T	TCGA-DJ-A3UQ-01A-11D-A22D-08	4392340	100532612	90621664	7	2616											
C4orf39	152756	broad.mit.edu	37	chr4	165878576	165878576	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accaccatcaggtcccagccTctttttgtgacaaggactag	8	13	2	1			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr4:165878576T>C	ENST00000513876.2	+	1	477	c.402T>C	c.(400-402)ccT>ccC	p.P134P	TRIM61_ENST00000329314.5_Intron	NM_153027.1	NP_694572.1	Q96MZ4	F218A_HUMAN	family with sequence similarity 218, member A	134																	GGTCCCAGCCTCTTTTTGTGA	0.572																																						ENST00000513876.2																			0											c.(400-402)ccT>ccC		family with sequence similarity 218, member A							73	74	74					4																	165878576		2203	4300	6503	SO:0001819	synonymous_variant	152756							g.chr4:165878576T>C	AK056221	CCDS3807.1	4q32.3	2012-03-01	2012-03-01	2012-03-01	ENSG00000250486	ENSG00000250486			26466	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 39"	C4orf39		12477932	Standard	NM_153027		Approved	FLJ31659	uc003iqx.1	Q96MZ4	OTTHUMG00000161252	ENST00000513876.2:c.402T>C	4.37:g.165878576T>C						TRIM61_ENST00000329314.5_Intron	p.P134P	NM_153027.1	NP_694572.1	Q96MZ4	CD039_HUMAN			1	477	+			134						Silent	SNP	ENST00000513876.2	37	c.402T>C	CCDS3807.1																																																																																				0.572	FAM218A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364308.1	NM_153027		3	75	0	0	0	1	0	3	75					C	165878576	T	C	165878576	2	2	122	1	0	0	0	0	0	0	0	1	2268	1538	54	3		3	C4orf39	4	165878576	Silent	SNP	T	TCGA-DJ-A3UQ-01A-11D-A22D-08	65345964	165878576	25275700	8	2617											
DNAH5	1767	broad.mit.edu	37	chr5	13737517	13737517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctgggtacttgtcaggcGgtaaagcaagttatcttcta	10	10	3	0			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr5:13737517G>A	ENST00000265104.4	-	66	11403	c.11299C>T	c.(11299-11301)Cgc>Tgc	p.R3767C		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3767	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R3767C(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTGTCAGGCGGTAAAGCAAG	0.428									Kartagener syndrome																													ENST00000265104.4																			1	Substitution - Missense(1)	p.R3767C(1)	endometrium(1)	NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(11299-11301)Cgc>Tgc		dynein, axonemal, heavy chain 5							187	170	176					5																	13737517		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13737517G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.11299C>T	5.37:g.13737517G>A	ENSP00000265104:p.Arg3767Cys						p.R3767C	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			66	11403	-	Lung NSC(4;0.00476)		3767			AAA 5 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.11299C>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469595	0.63625	.	.	ENSG00000039139	ENST00000265104	T	0.34072	1.38	5.68	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.68026	0.2956	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76860	-0.2803	10	0.87932	D	0	.	13.7836	0.63097	0.0:0.0:0.7209:0.2791	.	3767	Q8TE73	DYH5_HUMAN	C	3767	ENSP00000265104:R3767C	ENSP00000265104:R3767C	R	-	1	0	DNAH5	13790517	1.000000	0.71417	0.991000	0.47740	0.801000	0.45260	2.442000	0.44873	1.393000	0.46605	0.655000	0.94253	CGC		0.428	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		4	116	0	0	0	1	0	4	116					A	13737517	G	A	13737517	3	1	122	1	0	0	0	0	1	0	0	0	4604	1116	39	1	2631	1	DNAH5	5	13737517	Missense_Mutation	SNP	G	TCGA-DJ-A3UQ-01A-11D-A22D-08		13737517	167177743	9	2618											
POU4F3	5459	broad.mit.edu	37	chr5	145719616	145719616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgacccaggcggacgtggGcgcggctctggctaatctca	16	12	2	1			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr5:145719616G>A	ENST00000230732.4	+	2	715	c.626G>A	c.(625-627)gGc>gAc	p.G209D	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	209	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				auditory receptor cell differentiation (GO:0042491)|axon extension (GO:0048675)|inner ear morphogenesis (GO:0042472)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCGGACGTGGGCGCGGCTCTG	0.637																																						ENST00000230732.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17						c.(625-627)gGc>gAc		POU class 4 homeobox 3							40	44	42					5																	145719616		2203	4300	6503	SO:0001583	missense	5459				sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:145719616G>A	U10060	CCDS4281.1	5q32	2011-06-20	2007-07-13		ENSG00000091010	ENSG00000091010		"Homeoboxes / POU class"	9220	protein-coding gene	gene with protein product		602460	"POU domain class 4, transcription factor 3"	DFNA15		9506947	Standard	NM_002700		Approved	BRN3C	uc003loa.2	Q15319	OTTHUMG00000129684	ENST00000230732.4:c.626G>A	5.37:g.145719616G>A	ENSP00000230732:p.Gly209Asp					CTC-359M8.1_ENST00000515598.1_RNA	p.G209D	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	715	+			209			POU-specific.		O60557|Q2M3F8	Missense_Mutation	SNP	ENST00000230732.4	37	c.626G>A	CCDS4281.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974711	0.74360	.	.	ENSG00000091010	ENST00000230732	D	0.87966	-2.32	4.51	4.51	0.55191	POU-specific (4);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.85682	D	0.000000	D	0.94870	0.8342	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96106	0.9073	10	0.87932	D	0	.	16.1394	0.81513	0.0:0.0:1.0:0.0	.	209	Q15319	PO4F3_HUMAN	D	209	ENSP00000230732:G209D	ENSP00000230732:G209D	G	+	2	0	POU4F3	145699809	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.627000	0.98412	2.312000	0.78011	0.462000	0.41574	GGC		0.637	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251887.2	NM_002700		6	73	0	0	0	1	0	6	73					A	145719616	G	A	145719616	3	1	122	1	0	0	0	0	1	0	0	0	12280	1203	42	2	632	2	POU4F3	5	145719616	Missense_Mutation	SNP	G	TCGA-DJ-A3UQ-01A-11D-A22D-08	131982099	145719616	35195644	10	2619											
TFAP2D	83741	broad.mit.edu	37	chr6	50683317	50683317	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggccgccgcgggagcagaCgacttgcaggtaaataagca	14	11	0	1	rs573515296	byFrequency	TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr6:50683317C>A	ENST00000008391.3	+	2	756	c.528C>A	c.(526-528)gaC>gaA	p.D176E		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CGGGAGCAGACGACTTGCAGG	0.597													C|||	2	0.000399361	0	0	5008	,	,		13466	0		0	False		,,,				2504	0.002					ENST00000008391.3																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60						c.(526-528)gaC>gaA		transcription factor AP-2 delta (activating enhancer binding protein 2 delta)							45	52	50					6																	50683317		2154	4216	6370	SO:0001583	missense	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50683317C>A	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.528C>A	6.37:g.50683317C>A	ENSP00000008391:p.Asp176Glu						p.D176E	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN			2	756	+	Lung NSC(77;0.0334)		176						Missense_Mutation	SNP	ENST00000008391.3	37	c.528C>A	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	C	6.813	0.519172	0.13005	.	.	ENSG00000008197	ENST00000008391	D	0.96967	-4.19	5.06	0.657	0.17850	.	0.423244	0.27231	N	0.020301	T	0.77391	0.4123	N	0.08118	0	0.58432	D	0.999996	B	0.02656	0.0	B	0.06405	0.002	T	0.69591	-0.5104	10	0.02654	T	1	0.0059	10.3774	0.44090	0.3839:0.4922:0.1239:0.0	.	176	Q7Z6R9	AP2D_HUMAN	E	176	ENSP00000008391:D176E	ENSP00000008391:D176E	D	+	3	2	TFAP2D	50791276	0.996000	0.38824	0.999000	0.59377	0.986000	0.74619	0.461000	0.21940	0.184000	0.20083	0.655000	0.94253	GAC		0.597	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		6	104	1	0	0.00829132	1	0.00847557	6	104					A	50683317	C	A	50683317	3	1	122	1	0	0	0	0	1	0	0	0	15787	535	19	4	534	4	TFAP2D	6	50683317	Missense_Mutation	SNP	C	TCGA-DJ-A3UQ-01A-11D-A22D-08		50683317	120431750	11	2620											
MKRN1	23608	broad.mit.edu	37	chr7	140179061	140179061	+	Frame_Shift_Del	DEL	G	G	-													gtgactgtggggatcggggtGggggaggctgctgccgccgt					rs542039727	byFrequency	TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr7:140179061delG	ENST00000255977.2	-	1	308	c.84delC	c.(82-84)cccfs	p.P28fs	MKRN1_ENST00000437223.2_5'UTR|MKRN1_ENST00000474576.1_5'Flank|MKRN1_ENST00000480552.1_5'Flank|MKRN1_ENST00000481705.1_5'UTR|MKRN1_ENST00000443720.2_Frame_Shift_Del_p.P28fs	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	28					protein polyubiquitination (GO:0000209)		chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					GGATCGGGGTGGGGGAGgctg	0.701																																						ENST00000255977.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16						c.(82-84)ccfs		makorin ring finger protein 1			,	17,3399		7,3,1698	5	5	5		,	1.7	1.0	7		5	46,6438		21,4,3217	no	frameshift,frameshift	MKRN1	NM_013446.3,NM_001145125.1	,	28,7,4915	A1A1,A1R,RR		0.7094,0.4977,0.6364	,	,	140179061	63,9837	1883	3590	5473	SO:0001589	frameshift_variant	23608						ligase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:140179061delG	AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606		"RING-type (C3HC4) zinc fingers"	7112	protein-coding gene	gene with protein product		607754				10843807	Standard	NM_013446		Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000255977.2:c.84delC	7.37:g.140179061delG	ENSP00000255977:p.Pro28fs					MKRN1_ENST00000437223.2_5'UTR|MKRN1_ENST00000443720.2_Frame_Shift_Del_p.P28fs|MKRN1_ENST00000481705.1_5'UTR	p.P28fs	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN			1	308	-	Melanoma(164;0.00956)		28					A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	Frame_Shift_Del	DEL	ENST00000255977.2	37	c.84delC	CCDS5860.1																																																																																				0.701	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348752.1	NM_013446		2	4						2	4	---	---	---	---	-	140179061	G	-	140179061	7	5	122	1	0	1	0	1	0	0	0	0	9606	1335	47	0	1400	0	MKRN1	7	140179061	Frame_Shift_Del	DEL	G	TCGA-DJ-A3UQ-01A-11D-A22D-08		140179061	18959602	12	2621											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		30	84	0	0	0	1	0	30	84					T	140453136	A	T	140453136	3	4	122	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3UQ-01A-11D-A22D-08	274075	140453136	18685527	13	2622											
SGK196	84197	broad.mit.edu	37	chr8	42977872	42977872	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattgaagggagtgatatggTccgattccatttgtttgata	11	5	0	3	rs199756983		TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr8:42977872T>C	ENST00000331373.5	+	5	1160	c.905T>C	c.(904-906)gTc>gCc	p.V302A		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN	protein-O-mannose kinase	302	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|carbohydrate phosphorylation (GO:0046835)|learning or memory (GO:0007611)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|protein O-linked glycosylation (GO:0006493)|sensory perception of pain (GO:0019233)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|carbohydrate kinase activity (GO:0019200)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|protein kinase activity (GO:0004672)										AGTGATATGGTCCGATTCCAT	0.478																																						ENST00000331373.5																			0											c.(904-906)gTc>gCc									88	84	86					8																	42977872		2203	4300	6503	SO:0001583	missense	0					integral to membrane	ATP binding|protein kinase activity	g.chr8:42977872T>C		CCDS6141.1	8p11.21	2013-08-22			ENSG00000185900	ENSG00000185900			26267	protein-coding gene	gene with protein product		615247				16879967, 23519211	Standard	NM_001277971		Approved	FLJ23356, SgK196		Q9H5K3	OTTHUMG00000164100	ENST00000331373.5:c.905T>C	8.37:g.42977872T>C	ENSP00000331258:p.Val302Ala						p.V302A	NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN			5	1160	+			302			Protein kinase.			Missense_Mutation	SNP	ENST00000331373.5	37	c.905T>C	CCDS6141.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.097274	0.76870	.	.	ENSG00000185900	ENST00000331373	T	0.23147	1.92	5.45	5.45	0.79879	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.059227	0.64402	D	0.000002	T	0.49098	0.1537	M	0.83012	2.62	0.53005	D	0.999967	D	0.69078	0.997	P	0.58970	0.849	T	0.54470	-0.8289	9	.	.	.	-11.0426	13.4612	0.61229	0.0:0.0:0.0:1.0	.	302	Q9H5K3	SG196_HUMAN	A	302	ENSP00000331258:V302A	.	V	+	2	0	AC113191.1	43097029	1.000000	0.71417	0.996000	0.52242	0.951000	0.60555	5.003000	0.63959	2.065000	0.61736	0.482000	0.46254	GTC		0.478	POMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377291.2	NM_032237		3	101	0	0	0	1	0	3	101					C	42977872	T	C	42977872	3	2	122	1	0	0	0	0	1	0	0	0	14208	1667	58	3	911	3	SGK196	8	42977872	Missense_Mutation	SNP	T	TCGA-DJ-A3UQ-01A-11D-A22D-08		42977872	103386150	14	2623											
TP53INP1	94241	broad.mit.edu	37	chr8	95952260	95952260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgcagtaaaacatggggGtggggtgataaaccagctct	13	8	1	1			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr8:95952260G>A	ENST00000342697.4	-	3	708	c.301C>T	c.(301-303)Ccc>Tcc	p.P101S	TP53INP1_ENST00000378776.4_Missense_Mutation_p.P101S|NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_Missense_Mutation_p.P101S	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	101					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to hydroperoxide (GO:0071447)|cellular response to methyl methanesulfonate (GO:0072703)|cellular response to UV (GO:0034644)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|response to heat (GO:0009408)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)			kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					AAACATGGGGGTGGGGTGATA	0.463																																						ENST00000342697.4																			0				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9						c.(301-303)Ccc>Tcc		tumor protein p53 inducible nuclear protein 1							123	115	118					8																	95952260		2203	4300	6503	SO:0001583	missense	0				apoptosis	PML body		g.chr8:95952260G>A	AF409115	CCDS6265.1, CCDS47899.1	8q22	2004-03-11				ENSG00000164938			18022	protein-coding gene	gene with protein product		606185				11511362, 12438758	Standard	NM_033285		Approved	DKFZp434M1317, FLJ22139, P53DINP1, SIP, TP53INP1A, TP53INP1B, Teap	uc003yhg.3	Q96A56		ENST00000342697.4:c.301C>T	8.37:g.95952260G>A	ENSP00000344215:p.Pro101Ser					TP53INP1_ENST00000448464.2_Missense_Mutation_p.P101S|TP53INP1_ENST00000378776.4_Missense_Mutation_p.P101S|NDUFAF6_ENST00000396113.1_Intron	p.P101S	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN			3	708	-	Breast(36;8.75e-07)		101					B2RCE5|Q969R9	Missense_Mutation	SNP	ENST00000342697.4	37	c.301C>T	CCDS6265.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548502	0.86127	.	.	ENSG00000164938	ENST00000448464;ENST00000342697;ENST00000378776	T;T;T	0.79454	-1.27;-1.27;-1.27	6.17	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.88455	0.6441	M	0.80183	2.485	0.80722	D	1	P;D	0.89917	0.873;1.0	P;D	0.91635	0.554;0.999	D	0.90117	0.4196	10	0.87932	D	0	-17.2002	15.699	0.77528	0.0652:0.0:0.9348:0.0	.	101;101	Q96A56-2;Q96A56	.;T53I1_HUMAN	S	101	ENSP00000390063:P101S;ENSP00000344215:P101S;ENSP00000368052:P101S	ENSP00000344215:P101S	P	-	1	0	TP53INP1	96021436	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.323000	0.96364	1.630000	0.50440	0.655000	0.94253	CCC		0.463	TP53INP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379818.1			3	78	0	0	0	1	0	3	78					A	95952260	G	A	95952260	3	1	122	1	0	0	0	0	1	0	0	0	16385	1261	44	2	455	2	TP53INP1	8	95952260	Missense_Mutation	SNP	G	TCGA-DJ-A3UQ-01A-11D-A22D-08	52974388	95952260	50411762	15	2624											
ADRB1	153	broad.mit.edu	37	chr10	115804259	115804259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccatcgtggtgtggggccGctgggagtacggctccttct	15	12	1	0			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr10:115804259G>A	ENST00000369295.2	+	1	454	c.368G>A	c.(367-369)cGc>cAc	p.R123H		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	123					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|aging (GO:0007568)|apoptotic process (GO:0006915)|brown fat cell differentiation (GO:0050873)|diet induced thermogenesis (GO:0002024)|fear response (GO:0042596)|glycogen catabolic process (GO:0005980)|heat generation (GO:0031649)|lipid homeostasis (GO:0055088)|memory (GO:0007613)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of urine volume (GO:0035811)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cation channel activity (GO:2001259)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of saliva secretion (GO:0046878)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of the force of heart contraction by norepinephrine (GO:0003061)|protein localization to organelle (GO:0033365)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|response to cold (GO:0009409)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)|wound healing (GO:0042060)	early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|beta-adrenergic receptor activity (GO:0004939)|beta1-adrenergic receptor activity (GO:0004940)|dopamine binding (GO:0035240)|drug binding (GO:0008144)|epinephrine binding (GO:0051379)|norepinephrine binding (GO:0051380)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|receptor signaling protein activity (GO:0005057)			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Asenapine(DB06216)|Atenolol(DB00335)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dobutamine(DB00841)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Esmolol(DB00187)|Fenoterol(DB01288)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Loxapine(DB00408)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Practolol(DB01297)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Salbutamol(DB01001)|Sotalol(DB00489)|Timolol(DB00373)|Trimipramine(DB00726)	GTGTGGGGCCGCTGGGAGTAC	0.652																																						ENST00000369295.2																			0				large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6						c.(367-369)cGc>cAc		adrenoceptor beta 1	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)						77	92	87					10																	115804259		2203	4300	6503	SO:0001583	missense	153				positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity	g.chr10:115804259G>A	J03019	CCDS7586.1	10q25.3	2012-08-08	2012-05-09		ENSG00000043591	ENSG00000043591		"GPCR / Class A : Adrenoceptors : beta"	285	protein-coding gene	gene with protein product		109630	"adrenergic, beta-1-, receptor"	ADRB1R			Standard	NM_000684		Approved		uc001lba.3	P08588	OTTHUMG00000019079	ENST00000369295.2:c.368G>A	10.37:g.115804259G>A	ENSP00000358301:p.Arg123His						p.R123H	NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN		Epithelial(162;0.0124)|all cancers(201;0.0298)	1	454	+		Colorectal(252;0.172)|Breast(234;0.188)	123					B0LPE2|Q5T5Y4|Q9UKG7|Q9UKG8	Missense_Mutation	SNP	ENST00000369295.2	37	c.368G>A	CCDS7586.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.026014	0.54683	.	.	ENSG00000043591	ENST00000369295	T	0.72282	-0.64	4.07	4.07	0.47477	GPCR, rhodopsin-like superfamily (1);	0.466636	0.20773	U	0.085945	T	0.43188	0.1236	N	0.04636	-0.2	0.32260	N	0.570219	B	0.22146	0.065	B	0.22386	0.039	T	0.46569	-0.9182	10	0.18710	T	0.47	.	6.7114	0.23280	0.1045:0.2526:0.6429:0.0	.	123	P08588	ADRB1_HUMAN	H	123	ENSP00000358301:R123H	ENSP00000358301:R123H	R	+	2	0	ADRB1	115794249	0.153000	0.22777	1.000000	0.80357	0.988000	0.76386	1.343000	0.33930	1.835000	0.53391	0.436000	0.28706	CGC		0.652	ADRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050448.1			3	118	0	0	0	1	0	3	118					A	115804259	G	A	115804259	3	1	122	1	0	0	0	0	1	0	0	0	340	1087	38	1	370	1	ADRB1	10	115804259	Missense_Mutation	SNP	G	TCGA-DJ-A3UQ-01A-11D-A22D-08		115804259	19730488	16	2625											
CD5	921	broad.mit.edu	37	chr11	60886790	60886790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacagcggcagcctgggggGtaccatcagctatgaggccc	14	13	1	1			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr11:60886790G>A	ENST00000347785.3	+	5	714	c.548G>A	c.(547-549)gGt>gAt	p.G183D		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	183	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		AGCCTGGGGGGTACCATCAGC	0.612																																						ENST00000347785.3																			0				central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(547-549)gGt>gAt		CD5 molecule							56	61	59					11																	60886790		2203	4299	6502	SO:0001583	missense	921				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity	g.chr11:60886790G>A	X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"CD molecules"	1685	protein-coding gene	gene with protein product		153340	"CD5 antigen (p56-62)"	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.548G>A	11.37:g.60886790G>A	ENSP00000342681:p.Gly183Asp						p.G183D	NM_014207.3	NP_055022.2	P06127	CD5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)	5	714	+		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)	183			SRCR 2.		A0N0P4|A8K9I3	Missense_Mutation	SNP	ENST00000347785.3	37	c.548G>A	CCDS8000.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377197	0.82682	.	.	ENSG00000110448	ENST00000347785	T	0.36340	1.26	5.4	5.4	0.78164	Speract/scavenger receptor (1);	0.000000	0.56097	D	0.000021	T	0.56455	0.1986	L	0.58810	1.83	0.31014	N	0.718959	D	0.89917	1.0	D	0.83275	0.996	T	0.61594	-0.7031	10	0.87932	D	0	-31.067	14.6581	0.68850	0.0:0.0:1.0:0.0	.	183	P06127	CD5_HUMAN	D	183	ENSP00000342681:G183D	ENSP00000342681:G183D	G	+	2	0	CD5	60643366	0.995000	0.38212	0.115000	0.21578	0.280000	0.26924	4.620000	0.61226	2.518000	0.84900	0.609000	0.83330	GGT		0.612	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396465.2	NM_014207		5	108	0	0	0	1	0	5	108					A	60886790	G	A	60886790	3	1	122	1	0	0	0	0	1	0	0	0	3021	1261	44	2	566	2	CD5	11	60886790	Missense_Mutation	SNP	G	TCGA-DJ-A3UQ-01A-11D-A22D-08		60886790	74119726	17	2626											
PANX1	24145	broad.mit.edu	37	chr11	93912962	93912962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagacgagtttgtgtgcaGcatcaaatcagggatcctga	11	9	3	2			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr11:93912962G>A	ENST00000227638.3	+	4	1125	c.740G>A	c.(739-741)aGc>aAc	p.S247N	PANX1_ENST00000436171.2_Missense_Mutation_p.S247N	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	247					calcium ion transport (GO:0006816)|cation transport (GO:0006812)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|protein hexamerization (GO:0034214)|response to ATP (GO:0033198)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	bleb (GO:0032059)|endoplasmic reticulum (GO:0005783)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium channel activity (GO:0005262)|gap junction hemi-channel activity (GO:0055077)|leak channel activity (GO:0022840)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Probenecid(DB01032)	TTTGTGTGCAGCATCAAATCA	0.493																																						ENST00000227638.3																			0				endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(739-741)aGc>aAc		pannexin 1							184	160	168					11																	93912962		2201	4298	6499	SO:0001583	missense	24145				positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding	g.chr11:93912962G>A	AF093239	CCDS8296.1	11q14-q21	2011-12-02			ENSG00000110218	ENSG00000110218		"Ion channels / Pannexins"	8599	protein-coding gene	gene with protein product	"innexin"	608420				14597722	Standard	NM_015368		Approved	MRS1, UNQ2529, PX1	uc001per.3	Q96RD7	OTTHUMG00000167757	ENST00000227638.3:c.740G>A	11.37:g.93912962G>A	ENSP00000227638:p.Ser247Asn					PANX1_ENST00000436171.2_Missense_Mutation_p.S247N	p.S247N	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN			4	1125	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	247					O75968|Q543A0|Q6UW26|Q96AM9|Q96L77|Q96RS5	Missense_Mutation	SNP	ENST00000227638.3	37	c.740G>A	CCDS8296.1	.	.	.	.	.	.	.	.	.	.	G	8.720	0.914143	0.17907	.	.	ENSG00000110218	ENST00000227638;ENST00000436171	T;T	0.18174	2.23;2.23	5.95	4.09	0.47781	.	0.306737	0.45606	N	0.000347	T	0.12646	0.0307	L	0.47016	1.485	0.31010	N	0.719366	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.18967	-1.0320	10	0.17832	T	0.49	-17.2145	5.2943	0.15745	0.2869:0.1384:0.5747:0.0	.	247;247	Q96RD7;Q96RD7-2	PANX1_HUMAN;.	N	247	ENSP00000227638:S247N;ENSP00000411461:S247N	ENSP00000227638:S247N	S	+	2	0	PANX1	93552610	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	1.145000	0.31577	0.858000	0.35431	0.655000	0.94253	AGC		0.493	PANX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396121.1	NM_015368		3	118	0	0	0	1	0	3	118					A	93912962	G	A	93912962	3	1	122	1	0	0	0	0	1	0	0	0	11420	971	34	2	754	2	PANX1	11	93912962	Missense_Mutation	SNP	G	TCGA-DJ-A3UQ-01A-11D-A22D-08	33026172	93912962	41093554	18	2627											
YLPM1	56252	broad.mit.edu	37	chr14	75276498	75276498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgttgattatggccatggccGaggtgagtaatgatagtgca	14	5	0	3			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr14:75276498G>A	ENST00000552421.1	+	6	2943	c.2819G>A	c.(2818-2820)cGa>cAa	p.R940Q	YLPM1_ENST00000325680.7_Missense_Mutation_p.R1646Q|YLPM1_ENST00000238571.3_Missense_Mutation_p.R1451Q			P49750	YLPM1_HUMAN	YLP motif containing 1	1451	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GGCCATGGCCGAGGTGAGTAA	0.468																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(4936-4938)cGa>cAa		YLP motif containing 1							54	50	51					14																	75276498		1956	4152	6108	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75276498G>A	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 169"		"chromosome 14 open reading frame 170"	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.2819G>A	14.37:g.75276498G>A	ENSP00000447921:p.Arg940Gln					YLPM1_ENST00000238571.3_Missense_Mutation_p.R1451Q|YLPM1_ENST00000552421.1_Missense_Mutation_p.R940Q	p.R1646Q	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	7	5061	+			1451					P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37	c.4937G>A		.	.	.	.	.	.	.	.	.	.	G	23.0	4.360574	0.82353	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680;ENST00000547879	.	.	.	5.32	5.32	0.75619	.	0.000000	0.47455	D	0.000231	T	0.61899	0.2384	L	0.29908	0.895	0.42711	D	0.993646	D;D	0.76494	0.998;0.999	P;D	0.64144	0.867;0.922	T	0.61048	-0.7141	9	0.38643	T	0.18	-7.0676	13.3266	0.60463	0.076:0.0:0.924:0.0	.	1451;1646	P49750-3;P49750-4	.;.	Q	940;1646;1451;1359;55	.	ENSP00000238571:R1451Q	R	+	2	0	YLPM1	74346251	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.605000	0.67634	2.472000	0.83506	0.591000	0.81541	CGA		0.468	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		3	55	0	0	0	1	0	3	55					A	75276498	G	A	75276498	3	1	122	1	0	0	0	0	1	0	0	0	17483	1058	37	1	4963	1	YLPM1	14	75276498	Missense_Mutation	SNP	G	TCGA-DJ-A3UQ-01A-11D-A22D-08		75276498	32073042	19	2628											
MAP2K6	5608	broad.mit.edu	37	chr17	67515461	67515461	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	catttccattcagcggatccGagccacagtaaatagccagg	9	12	1	0			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr17:67515461G>C	ENST00000590474.1	+	5	541	c.254G>C	c.(253-255)cGa>cCa	p.R85P	MAP2K6_ENST00000589647.1_Missense_Mutation_p.R29P	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	85	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cell cycle arrest (GO:0007050)|cellular response to sorbitol (GO:0072709)|DNA damage induced protein phosphorylation (GO:0006975)|innate immune response (GO:0045087)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to ischemia (GO:0002931)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					CAGCGGATCCGAGCCACAGTA	0.468																																						ENST00000590474.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20						c.(253-255)cGa>cCa		mitogen-activated protein kinase kinase 6							121	114	116					17																	67515461		2203	4300	6503	SO:0001583	missense	5608				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:67515461G>C	U39064	CCDS11686.1	17q	2011-06-09						"Mitogen-activated protein kinase cascade / Kinase kinases"	6846	protein-coding gene	gene with protein product	"protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)"	601254		PRKMK6		8621675	Standard	XM_005257515		Approved	MEK6, MKK6, SAPKK3, MAPKK6	uc002jij.3	P52564		ENST00000590474.1:c.254G>C	17.37:g.67515461G>C	ENSP00000468348:p.Arg85Pro					MAP2K6_ENST00000589647.1_Missense_Mutation_p.R29P	p.R85P	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN			5	541	+	Breast(10;6.05e-10)		85			Protein kinase.			Missense_Mutation	SNP	ENST00000590474.1	37	c.254G>C	CCDS11686.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.270694	0.59540	.	.	ENSG00000108984	ENST00000359094	.	.	.	5.62	5.62	0.85841	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	0.85682	D	0.000000	T	0.37839	0.1018	N	0.13272	0.32	0.54753	D	0.999983	P;B;B	0.35208	0.49;0.142;0.142	B;B;B	0.35073	0.195;0.13;0.13	T	0.17319	-1.0373	8	.	.	.	-8.3415	17.5131	0.87765	0.0:0.0:1.0:0.0	.	115;85;85	Q6MZH7;P52564;A8K3Y2	.;MP2K6_HUMAN;.	P	85	.	.	R	+	2	0	MAP2K6	65027056	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	9.743000	0.98849	2.809000	0.96659	0.655000	0.94253	CGA		0.468	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450689.1	NM_002758		31	85	0	0	0	1	0	31	85					C	67515461	G	C	67515461	3	2	122	1	0	0	0	0	1	0	0	0	9241	1058	37	4	272	4	MAP2K6	17	67515461	Missense_Mutation	SNP	G	TCGA-DJ-A3UQ-01A-11D-A22D-08		67515461	13679749	20	2629											
AKAP8L	26993	broad.mit.edu	37	chr19	15514819	15514819	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatcacaggaatgacacttGcctctatttgtcccagagtt	7	11	2	2			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr19:15514819G>A	ENST00000397410.5	-	3	252		c.e3+1		AKAP8L_ENST00000595879.1_5'Flank|AKAP8L_ENST00000595465.2_Splice_Site	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like							cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						AATGACACTTGCCTCTATTTG	0.498																																						ENST00000397410.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.e3+1		A kinase (PRKA) anchor protein 8-like							129	138	135					19																	15514819		2010	4180	6190	SO:0001630	splice_region_variant	26993					cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding	g.chr19:15514819G>A	BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"neighbor of A kinase anchoring protein 95"	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.121+1C>T	19.37:g.15514819G>A						AKAP8L_ENST00000595136.1_Splice_Site|AKAP8L_ENST00000595465.1_Splice_Site		NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN			3	186	-								B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Splice_Site	SNP	ENST00000397410.5	37		CCDS46005.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151452	0.57151	.	.	ENSG00000011243	ENST00000397410	.	.	.	5.15	4.12	0.48240	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1706	0.48569	0.0882:0.0:0.9118:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AKAP8L	15375819	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	0.826000	0.27407	1.307000	0.44944	0.561000	0.74099	.		0.498	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	NM_014371	Intron	4	60	0	0	0	1	0	4	60					A	15514819	G	A	15514819	5	1	122	1	0	0	0	0	0	0	1	0	458	1333	46	2	1865	2	AKAP8L	19	15514819	Splice_Site	SNP	G	TCGA-DJ-A3UQ-01A-11D-A22D-08		15514819	43614164	21	2630											
NWD1	284434	broad.mit.edu	37	chr19	16910932	16910932	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacgtctacttccccaaaaTtggggacaaaaacaaagtca	6	11	2	0	rs138963732		TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr19:16910932T>C	ENST00000552788.1	+	15	3695	c.3695T>C	c.(3694-3696)aTt>aCt	p.I1232T	CTD-2538G9.6_ENST00000601661.1_RNA|NWD1_ENST00000339803.6_Missense_Mutation_p.I1097T|NWD1_ENST00000379808.3_Missense_Mutation_p.I1232T|NWD1_ENST00000524140.2_Missense_Mutation_p.I1232T|NWD1_ENST00000549814.1_Missense_Mutation_p.I1190T|NWD1_ENST00000523826.1_Missense_Mutation_p.I1026T			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1232							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTCCCCAAAATTGGGGACAAA	0.507																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(3694-3696)aTt>aCt		NACHT and WD repeat domain containing 1		T	THR/ILE	0,4406		0,0,2203	91	80	84		3695	0.9	0.0	19	dbSNP_134	84	1,8599	1.2+/-3.3	0,1,4299	no	missense	NWD1	NM_001007525.3	89	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	1232/1433	16910932	1,13005	2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16910932T>C	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3695T>C	19.37:g.16910932T>C	ENSP00000447224:p.Ile1232Thr					NWD1_ENST00000552788.1_Missense_Mutation_p.I1232T|NWD1_ENST00000549814.1_Missense_Mutation_p.I1190T|NWD1_ENST00000379808.3_Missense_Mutation_p.I1232T|NWD1_ENST00000339803.6_Missense_Mutation_p.I1097T|NWD1_ENST00000523826.1_Missense_Mutation_p.I1026T	p.I1232T	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			17	4113	+			1232					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.3695T>C		.	.	.	.	.	.	.	.	.	.	T	2.486	-0.318473	0.05386	0.0	1.16E-4	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.69926	0.46;-0.44;0.46;2.27;0.5;2.27	5.35	0.885	0.19188	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.621357	0.15666	N	0.250651	T	0.41305	0.1153	N	0.08118	0	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.10450	0.001;0.003;0.005	T	0.20706	-1.0267	10	0.21540	T	0.41	-2.6828	8.8823	0.35382	0.0:0.4189:0.0:0.5811	.	1232;1232;1097	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	T	1097;1232;1190;1232;1026;1232;1097	ENSP00000428579:I1232T;ENSP00000447548:I1190T;ENSP00000369136:I1232T;ENSP00000428955:I1026T;ENSP00000447224:I1232T;ENSP00000340159:I1097T	ENSP00000340159:I1097T	I	+	2	0	NWD1	16771932	0.001000	0.12720	0.001000	0.08648	0.923000	0.55619	0.461000	0.21940	-0.187000	0.10516	-0.925000	0.02716	ATT		0.507	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		35	87	0	0	0	1	0	35	87					C	16910932	T	C	16910932	3	2	122	1	0	0	0	0	1	0	0	0	10781	1493	52	3	3340	3	NWD1	19	16910932	Missense_Mutation	SNP	T	TCGA-DJ-A3UQ-01A-11D-A22D-08	1396113	16910932	42218051	22	2631											
FPR2	2358	broad.mit.edu	37	chr19	52272349	52272349	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtctggccatgaaggtgatCgtcggaccttggattcttgc	13	9	2	2	rs200320548		TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr19:52272349C>T	ENST00000598776.1	+	2	1210	c.438C>T	c.(436-438)atC>atT	p.I146I	FPR2_ENST00000598953.1_Silent_p.I146I|FPR2_ENST00000340023.6_Silent_p.I146I	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	146					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TGAAGGTGATCGTCGGACCTT	0.478													c|||	1	0.000199681	8e-04	0	5008	,	,		22842	0		0	False		,,,				2504	0					ENST00000598776.1																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(436-438)atC>atT		formyl peptide receptor 2							147	131	137					19																	52272349		2203	4300	6503	SO:0001819	synonymous_variant	2358				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52272349C>T	M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"GPCR / Class A : Formyl peptide receptors", "GPCR / Class A : Leukotriene receptors"	3827	protein-coding gene	gene with protein product		136538	"formyl peptide receptor-like 1"	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.438C>T	19.37:g.52272349C>T						FPR2_ENST00000598953.1_Silent_p.I146I|FPR2_ENST00000340023.6_Silent_p.I146I	p.I146I	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN			2	1210	+			146					A8K3E2	Silent	SNP	ENST00000598776.1	37	c.438C>T	CCDS12840.1																																																																																				0.478	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738		16	90	0	0	0	1	0	16	90					T	52272349	C	T	52272349	2	4	122	1	0	0	0	0	0	0	0	1	6039	874	31	1		1	FPR2	19	52272349	Silent	SNP	C	TCGA-DJ-A3UQ-01A-11D-A22D-08	35361417	52272349	6856634	23	2632											
TMEM90B	79953	broad.mit.edu	37	chr20	24524183	24524185	+	In_Frame_Del	DEL	GGA	GGA	-													cacaccctgtcctacgatgtGgaggaggaggaggagttcca							TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr20:24524183_24524185delGGA	ENST00000376862.3	+	2	1083_1085	c.450_452delGGA	c.(448-453)gtggag>gtg	p.E155del		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	155	Poly-Glu.				intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CCTACGATGTGGAGGAGGAGGAG	0.547																																						ENST00000376862.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						c.(448-453)gtg>gt		synapse differentiation inducing 1																																				SO:0001651	inframe_deletion	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24524183_24524185delGGA	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 5", "synapse differentiation induced gene 1"	614311	"chromosome 20 open reading frame 39", "transmembrane protein 90B"	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.450_452delGGA	20.37:g.24524192_24524194delGGA	ENSP00000366058:p.Glu155del						p.VE150del	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN			2	1083_1085	+			150					Q6IA30|Q9H514	In_Frame_Del	DEL	ENST00000376862.3	37	c.450_452delGGA	CCDS13164.1																																																																																				0.547	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		7	345						7	345	---	---	---	---	-	24524185	GGA	-	24524183	7	5	122	1	0	1	0	1	0	0	0	0	16216	1335	47	0	452	0	TMEM90B	20	24524183	In_Frame_Del	DEL	GGA	TCGA-DJ-A3UQ-01A-11D-A22D-08		24524183	38501337	24	2633											
WFDC3	140686	broad.mit.edu	37	chr20	44417689	44417689	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tcttatggggagggcattctCcctcttttgctgcaaaagat	10	9	3	1			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr20:44417689C>G	ENST00000243938.4	-	3	175	c.92G>C	c.(91-93)gGa>gCa	p.G31A	WFDC3_ENST00000481847.1_Intron|WFDC3_ENST00000372630.2_Intron|WFDC3_ENST00000372632.2_Missense_Mutation_p.G31A|DNTTIP1_ENST00000372622.3_5'Flank	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3	31	WAP 1. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				AGGGCATTCTCCCTCTTTTGC	0.517																																						ENST00000243938.4																			0				endometrium(1)|large_intestine(3)|prostate(1)	5						c.(91-93)gGa>gCa		WAP four-disulfide core domain 3							171	159	163					20																	44417689		2203	4300	6503	SO:0001583	missense	140686					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44417689C>G	AL050348	CCDS33478.1	20q13.12	2013-01-21			ENSG00000124116	ENSG00000124116		"WAP four-disulfide core domain containing"	15957	protein-coding gene	gene with protein product						12206714, 10680116	Standard	NM_080614		Approved	dJ447F3.3, WAP14	uc002xpf.1	Q8IUB2	OTTHUMG00000032614	ENST00000243938.4:c.92G>C	20.37:g.44417689C>G	ENSP00000243938:p.Gly31Ala					WFDC3_ENST00000372630.2_Intron|WFDC3_ENST00000481847.1_Intron|WFDC3_ENST00000372632.2_Missense_Mutation_p.G31A	p.G31A	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN			3	175	-		Myeloproliferative disorder(115;0.0122)	31			WAP 1.		A6PVF2|Q0P6A5|Q3T1C5|Q8TC52|Q9BQP3|Q9BQP4	Missense_Mutation	SNP	ENST00000243938.4	37	c.92G>C	CCDS33478.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.69|11.69	1.713486|1.713486	0.30413|0.30413	.|.	.|.	ENSG00000124116|ENSG00000124116	ENST00000337205|ENST00000243938;ENST00000372632	.|T;T	.|0.54071	.|0.59;0.59	4.58|4.58	2.63|2.63	0.31362|0.31362	.|Whey acidic protein, 4-disulphide core (5);4-disulphide core (1);	.|0.000000	.|0.31484	.|N	.|0.007571	T|T	0.74023|0.74023	0.3662|0.3662	H|H	0.95611|0.95611	3.695|3.695	0.58432|0.58432	D|D	0.999992|0.999992	.|D	.|0.67145	.|0.996	.|P	.|0.61800	.|0.894	T|T	0.75113|0.75113	-0.3432|-0.3432	5|10	.|0.87932	.|D	.|0	-1.6036|-1.6036	7.1316|7.1316	0.25504|0.25504	0.0:0.7872:0.0:0.2128|0.0:0.7872:0.0:0.2128	.|.	.|31	.|Q8IUB2	.|WFDC3_HUMAN	Q|A	25|31	.|ENSP00000243938:G31A;ENSP00000361715:G31A	.|ENSP00000243938:G31A	E|G	-|-	1|2	0|0	WFDC3|WFDC3	43851096|43851096	0.066000|0.066000	0.20996|0.20996	0.968000|0.968000	0.41197|0.41197	0.986000|0.986000	0.74619|0.74619	0.547000|0.547000	0.23299|0.23299	0.484000|0.484000	0.27630|0.27630	0.643000|0.643000	0.83706|0.83706	GAG|GGA		0.517	WFDC3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316858.1			4	205	0	0	0	1	0	4	205					G	44417689	C	G	44417689	3	3	122	1	0	0	0	0	1	0	0	0	17350	855	30	4	623	4	WFDC3	20	44417689	Missense_Mutation	SNP	C	TCGA-DJ-A3UQ-01A-11D-A22D-08	19893506	44417689	18607831	25	2634											
MN1	4330	broad.mit.edu	37	chr22	28194072	28194072	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagccaggcagctctggccGaacaggttgtccttggagct	14	12	1	0			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr22:28194072G>A	ENST00000302326.4	-	1	3414	c.2460C>T	c.(2458-2460)ttC>ttT	p.F820F		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	820					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						AGCTCTGGCCGAACAGGTTGT	0.632			T	ETV6	"AML, meningioma"																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"L, O"	ETV6		"AML, meningioma"		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(2458-2460)ttC>ttT		meningioma (disrupted in balanced translocation) 1							41	47	45					22																	28194072		1946	4136	6082	SO:0001819	synonymous_variant	4330						binding	g.chr22:28194072G>A	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.2460C>T	22.37:g.28194072G>A							p.F820F	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	3414	-			820					A9Z1V9	Silent	SNP	ENST00000302326.4	37	c.2460C>T	CCDS42998.1																																																																																				0.632	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		3	80	0	0	0	1	0	3	80					A	28194072	G	A	28194072	2	1	122	1	0	0	0	0	0	0	0	1	9673	1049	37	1		1	MN1	22	28194072	Silent	SNP	G	TCGA-DJ-A3UQ-01A-11D-A22D-08		28194072	23110494	26	2635											
CLCN5	1184	broad.mit.edu	37	chrX	49854982	49854982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtttgctcataagaccctgGcaatggatgtgatgaaaccc	10	9	1	3			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chrX:49854982G>A	ENST00000307367.2	+	10	2035	c.1744G>A	c.(1744-1746)Gca>Aca	p.A582T	CLCN5_ENST00000376108.3_Missense_Mutation_p.A582T|CLCN5_ENST00000376091.3_Missense_Mutation_p.A652T|CLCN5_ENST00000376088.3_Missense_Mutation_p.A652T			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	582					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					TAAGACCCTGGCAATGGATGT	0.478																																						ENST00000376088.3																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30						c.(1954-1956)Gca>Aca		chloride channel, voltage-sensitive 5							117	94	101					X																	49854982		2203	4300	6503	SO:0001583	missense	1184				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding	g.chrX:49854982G>A	X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"Ion channels / Chloride channels : Voltage-sensitive"	2023	protein-coding gene	gene with protein product	"Dent disease"	300008	"nephrolithiasis 2, X-linked", "nephrolithiasis 1 (X-linked)", "chloride channel 5"	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.1744G>A	X.37:g.49854982G>A	ENSP00000304257:p.Ala582Thr					CLCN5_ENST00000376108.3_Missense_Mutation_p.A582T|CLCN5_ENST00000376091.3_Missense_Mutation_p.A652T|CLCN5_ENST00000307367.2_Missense_Mutation_p.A582T	p.A652T	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN			13	2595	+	Ovarian(276;0.236)		582					A1L475|B3KPN6|Q5JQD5|Q7RTN8	Missense_Mutation	SNP	ENST00000307367.2	37	c.1954G>A	CCDS14328.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.967432	0.92855	.	.	ENSG00000171365	ENST00000376088;ENST00000450422;ENST00000376091;ENST00000376108;ENST00000307367	D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43	5.78	5.78	0.91487	.	0.047471	0.85682	D	0.000000	D	0.92583	0.7644	M	0.93808	3.46	0.80722	D	1	P;B	0.36282	0.546;0.043	B;B	0.37387	0.248;0.011	D	0.93351	0.6718	10	0.62326	D	0.03	-5.2567	17.6538	0.88172	0.0:0.0:1.0:0.0	.	582;652	P51795;P51795-2	CLCN5_HUMAN;.	T	652;484;652;582;582	ENSP00000365256:A652T;ENSP00000365259:A652T;ENSP00000365276:A582T;ENSP00000304257:A582T	ENSP00000304257:A582T	A	+	1	0	CLCN5	49741722	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.705000	0.98719	2.441000	0.82636	0.594000	0.82650	GCA		0.478	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1			20	60	0	0	0	1	0	20	60					A	49854982	G	A	49854982	3	1	122	1	0	0	0	0	1	0	0	0	3466	1203	42	2	1996	2	CLCN5	23	49854982	Missense_Mutation	SNP	G	TCGA-DJ-A3UQ-01A-11D-A22D-08		49854982	105415578	27	2636											
ITIH5L	347365	broad.mit.edu	37	chrX	54783712	54783712	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccagggggcagagtgggaGtaaagggcatggggaggggt	22	4	0	1			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chrX:54783712G>A	ENST00000218436.6	-	8	2824	c.2795C>T	c.(2794-2796)aCt>aTt	p.T932I		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	932	Pro-rich.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										CAGAGTGGGAGTAAAGGGCAT	0.567																																						ENST00000218436.6																			0											c.(2794-2796)aCt>aTt		inter-alpha-trypsin inhibitor heavy chain family, member 6							67	62	64					X																	54783712		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54783712G>A	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.2795C>T	X.37:g.54783712G>A	ENSP00000218436:p.Thr932Ile						p.T932I	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN			8	2824	-			932			Pro-rich.		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.2795C>T	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	1.350	-0.591704	0.03799	.	.	ENSG00000102313	ENST00000218436	T	0.02446	4.29	3.78	0.712	0.18167	.	1.151990	0.07429	N	0.895352	T	0.01730	0.0055	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47886	-0.9082	10	0.45353	T	0.12	.	3.5149	0.07721	0.27:0.0:0.5028:0.2272	.	932	Q6UXX5	ITH5L_HUMAN	I	932	ENSP00000218436:T932I	ENSP00000218436:T932I	T	-	2	0	ITIH5L	54800437	0.022000	0.18835	0.000000	0.03702	0.001000	0.01503	0.204000	0.17335	0.076000	0.16826	-0.293000	0.09583	ACT		0.567	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		3	69	0	0	0	1	0	3	69					A	54783712	G	A	54783712	3	1	122	1	0	0	0	0	1	0	0	0	7908	1029	36	2	1170	2	ITIH5L	23	54783712	Missense_Mutation	SNP	G	TCGA-DJ-A3UQ-01A-11D-A22D-08	4928730	54783712	100486848	28	2637											
TNR	7143	broad.mit.edu	37	chr1	175325475	175325475	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gagtagaaaagttggtgctgAtggtgccactggtgagaggt	17	4	0	3			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr1:175325475A>T	ENST00000367674.2	-	16	3806	c.3098T>A	c.(3097-3099)aTc>aAc	p.I1033N	TNR_ENST00000263525.2_Missense_Mutation_p.I1033N			Q92752	TENR_HUMAN	tenascin R	1033	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GTTGGTGCTGATGGTGCCACT	0.498																																						ENST00000367674.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(3097-3099)aTc>aAc		tenascin R							261	224	237					1																	175325475		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175325475A>T	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3098T>A	1.37:g.175325475A>T	ENSP00000356646:p.Ile1033Asn					TNR_ENST00000263525.2_Missense_Mutation_p.I1033N	p.I1033N	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			16	3806	-	Renal(580;0.146)		1033			Fibronectin type-III 8.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.3098T>A	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.453076	0.84209	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.52754	0.65;0.65	5.5	5.5	0.81552	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.258491	0.38897	N	0.001523	T	0.50429	0.1615	M	0.68317	2.08	0.50313	D	0.999865	P	0.39480	0.675	B	0.39617	0.305	T	0.57254	-0.7843	10	0.72032	D	0.01	.	15.2747	0.73732	1.0:0.0:0.0:0.0	.	1033	Q92752	TENR_HUMAN	N	1033;1033;943	ENSP00000356646:I1033N;ENSP00000263525:I1033N	ENSP00000263525:I1033N	I	-	2	0	TNR	173592098	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.832000	0.92079	2.085000	0.62840	0.533000	0.62120	ATC		0.498	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		30	164	0	0	0	1	0	30	164					T	175325475	A	T	175325475	3	4	123	1	0	0	0	0	1	0	0	0	16335	333	12	5	1010	5	TNR	1	175325475	Missense_Mutation	SNP	A	TCGA-DJ-A3UR-01A-11D-A22D-08		175325475	73925146	1	2638											
MATN3	4148	broad.mit.edu	37	chr2	20205863	20205863	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacggcctgcttcagggaCtgcttatctgtgtaggcctg	12	13	2	0			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr2:20205863C>T	ENST00000407540.3	-	2	494	c.432G>A	c.(430-432)caG>caA	p.Q144Q	MATN3_ENST00000421259.2_Silent_p.Q144Q|AC079145.4_ENST00000416575.1_RNA	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	144	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTTCAGGGACTGCTTATCTG	0.567																																						ENST00000407540.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13						c.(430-432)caG>caA		matrilin 3							66	72	70					2																	20205863		2097	4227	6324	SO:0001819	synonymous_variant	4148				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr2:20205863C>T	AJ001047	CCDS46226.1	2p24-p23	2008-06-03			ENSG00000132031	ENSG00000132031			6909	protein-coding gene	gene with protein product		602109				9287130, 9350998	Standard	NM_002381		Approved	EDM5, HOA	uc002rdl.3	O15232	OTTHUMG00000151788	ENST00000407540.3:c.432G>A	2.37:g.20205863C>T						MATN3_ENST00000421259.2_Silent_p.Q144Q	p.Q144Q	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN			2	494	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		144			VWFA.		B2CPU0|Q4ZG02	Silent	SNP	ENST00000407540.3	37	c.432G>A	CCDS46226.1																																																																																				0.567	MATN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323925.1	NM_002381		3	108	0	0	0	1	0	3	108					T	20205863	C	T	20205863	2	4	123	1	0	0	0	0	0	0	0	1	9335	564	20	2		2	MATN3	2	20205863	Silent	SNP	C	TCGA-DJ-A3UR-01A-11D-A22D-08		20205863	222993510	2	2639											
TUBA3D	113457	broad.mit.edu	37	chr2	132235871	132235871	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaccattggtggcggggaCgactccttcaacacgttctt	10	11	2	0			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr2:132235871C>T	ENST00000321253.6	+	2	245	c.138C>T	c.(136-138)gaC>gaT	p.D46D		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	46					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		GTGGCGGGGACGACTCCTTCA	0.562																																					Ovarian(137;2059 2432 35543 39401)	ENST00000321253.6																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32						c.(136-138)gaC>gaT		tubulin, alpha 3d							108	94	99					2																	132235871		2203	4300	6503	SO:0001819	synonymous_variant	113457				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:132235871C>T	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"Tubulins"	24071	protein-coding gene	gene with protein product	"alpha-tubulin isotype H2-alpha"					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.138C>T	2.37:g.132235871C>T							p.D46D	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	245	+			46					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000321253.6	37	c.138C>T	CCDS33290.1																																																																																				0.562	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386		48	63	0	0	0	1	0	48	63					T	132235871	C	T	132235871	2	4	123	1	0	0	0	0	0	0	0	1	16744	535	19	1		1	TUBA3D	2	132235871	Silent	SNP	C	TCGA-DJ-A3UR-01A-11D-A22D-08	112030008	132235871	110963502	3	2640											
WDFY3	23001	broad.mit.edu	37	chr4	85696234	85696235	+	Frame_Shift_Ins	INS	-	-	T													tacctggactctgtgagcagINSttcaataaagtgttcaaata							TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr4:85696234_85696235insT	ENST00000295888.4	-	28	4982_4983	c.4575_4576insA	c.(4573-4578)gaactgfs	p.L1526fs	WDFY3_ENST00000322366.6_Frame_Shift_Ins_p.L1526fs	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1526					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)		TCTGTGAGCAGTTCAATAAAGT	0.297																																						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.(4573-4578)gatgctfs		WD repeat and FYVE domain containing 3																																				SO:0001589	frameshift_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85696234_85696235insT	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.4576dupA	4.37:g.85696236_85696236dupT	ENSP00000295888:p.Leu1526fs					WDFY3_ENST00000295888.4_Frame_Shift_Ins_p.DA1525fs	p.DA1525fs			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	28	4982_4983	-		Hepatocellular(203;0.114)	1525					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Frame_Shift_Ins	INS	ENST00000295888.4	37	c.4575_4576insA	CCDS3609.1																																																																																				0.297	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		34	46						34	46	---	---	---	---	T	85696235	-	T	85696234	7	5	123	1	0	1	1	0	0	0	0	0	17267	1020	36	0	6168	0	WDFY3	4	85696234	Frame_Shift_Ins	INS	-	TCGA-DJ-A3UR-01A-11D-A22D-08		85696234	105458042	4	2641											
PCDHB14	56122	broad.mit.edu	37	chr5	140603736	140603736	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcagtggatggtggatcccCgcccaagtctgggacaactt	13	11	1	0			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr5:140603736C>A	ENST00000239449.4	+	1	659	c.659C>A	c.(658-660)cCg>cAg	p.P220Q	PCDHB14_ENST00000515856.2_Missense_Mutation_p.P67Q	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	220	Cadherin 2. {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)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGATCCCCGCCCAAGTCT	0.478																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(658-660)cCg>cAg									65	67	67					5																	140603736		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140603736C>A	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.659C>A	5.37:g.140603736C>A	ENSP00000239449:p.Pro220Gln					PCDHB14_ENST00000515856.2_Missense_Mutation_p.P67Q	p.P220Q	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	659	+			220			Cadherin 2.		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.659C>A	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	17.61	3.432767	0.62844	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.55588	0.51;0.51	4.75	3.87	0.44632	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.83436	0.5254	H	0.99130	4.44	0.43073	D	0.99471	D	0.89917	1.0	D	0.87578	0.998	D	0.90157	0.4225	9	0.87932	D	0	.	14.152	0.65392	0.1514:0.8486:0.0:0.0	.	220	Q9Y5E9	PCDBE_HUMAN	Q	67;220	ENSP00000444518:P67Q;ENSP00000239449:P220Q	ENSP00000239449:P220Q	P	+	2	0	PCDHB14	140583920	1.000000	0.71417	0.529000	0.27951	0.980000	0.70556	7.445000	0.80570	1.107000	0.41642	0.655000	0.94253	CCG		0.478	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		3	122	1	0	1	1	1	3	122					A	140603736	C	A	140603736	3	1	123	1	0	0	0	0	1	0	0	0	11539	652	23	4	661	4	PCDHB14	5	140603736	Missense_Mutation	SNP	C	TCGA-DJ-A3UR-01A-11D-A22D-08		140603736	40311524	5	2642											
TNIP1	10318	broad.mit.edu	37	chr5	150411907	150411907	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggagctctgatttggatttCgaacccctccacagggtaga	12	10	1	2			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr5:150411907C>T	ENST00000389378.2	-	17	2405	c.1817G>A	c.(1816-1818)cGa>cAa	p.R606Q	TNIP1_ENST00000522226.1_Missense_Mutation_p.R606Q|TNIP1_ENST00000523200.1_Missense_Mutation_p.R542Q|TNIP1_ENST00000518977.1_Missense_Mutation_p.R606Q|TNIP1_ENST00000523338.1_Missense_Mutation_p.R606Q|TNIP1_ENST00000524280.1_Intron|TNIP1_ENST00000520931.1_Missense_Mutation_p.R553Q|TNIP1_ENST00000521591.1_Missense_Mutation_p.R606Q|TNIP1_ENST00000521423.1_5'UTR|TNIP1_ENST00000315050.7_Missense_Mutation_p.R606Q	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	606	Pro-rich.				defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)	p.R606Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTTGGATTTCGAACCCCTCC	0.512																																						ENST00000389378.2																			1	Substitution - Missense(1)	p.R606Q(1)	ovary(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23						c.(1816-1818)cGa>cAa		TNFAIP3 interacting protein 1							93	87	89					5																	150411907		2203	4300	6503	SO:0001583	missense	10318				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding	g.chr5:150411907C>T	AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"virion-associated nuclear-shuttling protein", "Nef-associated factor 1 SNP"	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025		ENST00000389378.2:c.1817G>A	5.37:g.150411907C>T	ENSP00000374029:p.Arg606Gln					TNIP1_ENST00000518977.1_Missense_Mutation_p.R606Q|TNIP1_ENST00000521423.1_5'UTR|TNIP1_ENST00000521591.1_Missense_Mutation_p.R606Q|TNIP1_ENST00000523200.1_Missense_Mutation_p.R542Q|TNIP1_ENST00000315050.7_Missense_Mutation_p.R606Q|TNIP1_ENST00000524280.1_Intron|TNIP1_ENST00000522226.1_Missense_Mutation_p.R606Q|TNIP1_ENST00000523338.1_Missense_Mutation_p.R606Q|TNIP1_ENST00000520931.1_Missense_Mutation_p.R553Q	p.R606Q	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		17	2405	-		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	606			Pro-rich.		A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Missense_Mutation	SNP	ENST00000389378.2	37	c.1817G>A	CCDS34280.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.339004	0.24253	.	.	ENSG00000145901	ENST00000520931;ENST00000389378;ENST00000315050;ENST00000523338;ENST00000417127;ENST00000539213;ENST00000522226;ENST00000521591;ENST00000518977;ENST00000523200	T;T;T;T;T;T;T;T	0.15139	2.45;2.47;2.47;2.51;2.47;2.47;2.51;2.55	3.83	2.06	0.26882	.	0.134223	0.48286	D	0.000194	T	0.17195	0.0413	L	0.54323	1.7	0.18873	N	0.999987	P;B;B;B	0.47302	0.893;0.221;0.293;0.293	B;B;B;B	0.43360	0.417;0.082;0.03;0.03	T	0.08106	-1.0738	10	0.56958	D	0.05	-6.5299	7.9534	0.30027	0.0:0.7997:0.0:0.2003	.	496;542;606;606	A4F1X7;E7ET96;A4F1W9;Q15025	.;.;.;TNIP1_HUMAN	Q	553;606;606;606;499;568;606;606;606;542	ENSP00000429891:R553Q;ENSP00000374029:R606Q;ENSP00000317891:R606Q;ENSP00000428243:R606Q;ENSP00000428187:R606Q;ENSP00000430760:R606Q;ENSP00000430971:R606Q;ENSP00000431105:R542Q	ENSP00000317891:R606Q	R	-	2	0	TNIP1	150392100	0.055000	0.20627	0.115000	0.21578	0.280000	0.26924	0.310000	0.19356	0.594000	0.29761	0.561000	0.74099	CGA		0.512	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1	NM_006058		3	58	0	0	0	1	0	3	58					T	150411907	C	T	150411907	3	4	123	1	0	0	0	0	1	0	0	0	16311	884	31	1	101	1	TNIP1	5	150411907	Missense_Mutation	SNP	C	TCGA-DJ-A3UR-01A-11D-A22D-08	9808171	150411907	30503353	6	2643											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		43	59	0	0	0	1	0	43	59					T	140453136	A	T	140453136	3	4	123	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3UR-01A-11D-A22D-08		140453136	18685527	7	2644											
ANK1	286	broad.mit.edu	37	chr8	41530310	41530310	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgtcatgctccgtggccGccaaggggatggcgtctagg	17	10	2	0			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr8:41530310G>A	ENST00000347528.4	-	38	4741	c.4658C>T	c.(4657-4659)gCg>gTg	p.A1553V	ANK1_ENST00000396945.1_Missense_Mutation_p.A1553V|ANK1_ENST00000265709.8_Missense_Mutation_p.A1594V|ANK1_ENST00000379758.2_Missense_Mutation_p.A1553V|ANK1_ENST00000289734.7_Missense_Mutation_p.A1553V|ANK1_ENST00000396942.1_Missense_Mutation_p.A1553V|ANK1_ENST00000352337.4_Missense_Mutation_p.A1553V	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1553	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)			CTCCGTGGCCGCCAAGGGGAT	0.622																																						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.(4657-4659)gCg>gTg		ankyrin 1, erythrocytic							43	42	42					8																	41530310		2203	4300	6503	SO:0001583	missense	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.chr8:41530310G>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.4658C>T	8.37:g.41530310G>A	ENSP00000339620:p.Ala1553Val					ANK1_ENST00000289734.7_Missense_Mutation_p.A1553V|ANK1_ENST00000265709.8_Missense_Mutation_p.A1594V|ANK1_ENST00000347528.4_Missense_Mutation_p.A1553V|ANK1_ENST00000396945.1_Missense_Mutation_p.A1553V|ANK1_ENST00000379758.2_Missense_Mutation_p.A1553V|ANK1_ENST00000352337.4_Missense_Mutation_p.A1553V	p.A1553V			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)		38	4741	-	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)	1553			55 kDa regulatory domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.4658C>T	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069112	0.55539	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709	T;T;T;T;T;T;T	0.68765	-0.33;-0.35;-0.3;-0.29;-0.31;-0.29;-0.32	5.24	3.46	0.39613	.	0.062523	0.64402	N	0.000006	T	0.59018	0.2163	L	0.55481	1.735	0.53005	D	0.999967	B;B;B;B	0.20887	0.049;0.014;0.028;0.049	B;B;B;B	0.20577	0.025;0.013;0.03;0.025	T	0.54450	-0.8292	10	0.40728	T	0.16	.	9.7624	0.40541	0.1585:0.0:0.8415:0.0	.	1594;1553;1553;1553	P16157-21;P16157;P16157-5;P16157-3	.;ANK1_HUMAN;.;.	V	1553;1553;1553;1553;1553;1553;1594	ENSP00000339620:A1553V;ENSP00000289734:A1553V;ENSP00000369082:A1553V;ENSP00000380149:A1553V;ENSP00000380147:A1553V;ENSP00000309131:A1553V;ENSP00000265709:A1594V	ENSP00000265709:A1594V	A	-	2	0	ANK1	41649467	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	6.371000	0.73119	0.734000	0.32515	0.552000	0.68991	GCG		0.622	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		3	59	0	0	0	1	0	3	59					A	41530310	G	A	41530310	3	1	123	1	0	0	0	0	1	0	0	0	620	1087	38	1	1333	1	ANK1	8	41530310	Missense_Mutation	SNP	G	TCGA-DJ-A3UR-01A-11D-A22D-08		41530310	104833712	8	2645											
ARHGAP21	57584	broad.mit.edu	37	chr10	24874711	24874711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagttgtgtggtggtgaggGttcttcagaaggcgtgctct	17	5	3	3			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr10:24874711G>A	ENST00000396432.2	-	26	4993	c.4507C>T	c.(4507-4509)Ccc>Tcc	p.P1503S		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1502					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GGTGGTGAGGGTTCTTCAGAA	0.473																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(4507-4509)Ccc>Tcc		Rho GTPase activating protein 21							300	261	274					10																	24874711		2203	4300	6503	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24874711G>A	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.4507C>T	10.37:g.24874711G>A	ENSP00000379709:p.Pro1503Ser						p.P1503S	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			26	4993	-			1502					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.4507C>T	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	11.79	1.742950	0.30865	.	.	ENSG00000107863	ENST00000396432;ENST00000447364	T	0.10382	2.88	4.83	1.82	0.25136	.	0.606910	0.17959	N	0.156254	T	0.07007	0.0178	L	0.41824	1.3	0.09310	N	1	B	0.19706	0.038	B	0.17433	0.018	T	0.41052	-0.9530	10	0.16896	T	0.51	.	2.9595	0.05888	0.149:0.2588:0.4592:0.133	.	1502	Q5T5U3	RHG21_HUMAN	S	1503;952	ENSP00000379709:P1503S	ENSP00000379709:P1503S	P	-	1	0	ARHGAP21	24914717	0.993000	0.37304	0.001000	0.08648	0.052000	0.14988	1.400000	0.34577	0.077000	0.16863	0.591000	0.81541	CCC		0.473	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		4	236	0	0	0	1	0	4	236					A	24874711	G	A	24874711	3	1	123	1	0	0	0	0	1	0	0	0	871	1261	44	2	1373	2	ARHGAP21	10	24874711	Missense_Mutation	SNP	G	TCGA-DJ-A3UR-01A-11D-A22D-08		24874711	110660036	9	2646											
KCNA4	3739	broad.mit.edu	37	chr11	30033580	30033580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaaaaaaatactcattgcGcaaagggtcaaagtactgag	9	7	3	1			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr11:30033580G>A	ENST00000328224.6	-	2	1879	c.646C>T	c.(646-648)Cgc>Tgc	p.R216C	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	216					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	TACTCATTGCGCAAAGGGTCA	0.483																																						ENST00000328224.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(646-648)Cgc>Tgc		potassium voltage-gated channel, shaker-related subfamily, member 4							70	65	67					11																	30033580		1864	4109	5973	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033580G>A	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6222	protein-coding gene	gene with protein product		176266	"potassium voltage-gated channel, shaker-related subfamily, member 4-like"	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.646C>T	11.37:g.30033580G>A	ENSP00000328511:p.Arg216Cys						p.R216C	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	1879	-			216						Missense_Mutation	SNP	ENST00000328224.6	37	c.646C>T	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.971813	0.53614	.	.	ENSG00000182255	ENST00000328224	T	0.77489	-1.1	4.94	4.94	0.65067	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.85703	0.5758	M	0.86573	2.825	0.80722	D	1	D	0.76494	0.999	P	0.54590	0.756	D	0.88342	0.2975	10	0.87932	D	0	.	12.4793	0.55833	0.0:0.0:0.7169:0.283	.	216	P22459	KCNA4_HUMAN	C	216	ENSP00000328511:R216C	ENSP00000328511:R216C	R	-	1	0	KCNA4	29990156	1.000000	0.71417	0.998000	0.56505	0.927000	0.56198	2.587000	0.46128	2.297000	0.77311	0.655000	0.94253	CGC		0.483	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		4	101	0	0	0	1	0	4	101					A	30033580	G	A	30033580	3	1	123	1	0	0	0	0	1	0	0	0	8005	1087	38	1	1319	1	KCNA4	11	30033580	Missense_Mutation	SNP	G	TCGA-DJ-A3UR-01A-11D-A22D-08		30033580	104972936	10	2647											
LOH12CR1	118426	broad.mit.edu	37	chr12	12514275	12514275	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattccaaccttccagccccTtttgaaaggtaaaggattgc	8	11	0	1			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr12:12514275T>C	ENST00000314565.4	+	2	525	c.194T>C	c.(193-195)cTt>cCt	p.L65P	LOH12CR1_ENST00000298571.6_Intron|LOH12CR1_ENST00000542728.1_Missense_Mutation_p.L46P	NM_058169.3	NP_477517.1	Q969J3	L12R1_HUMAN	loss of heterozygosity, 12, chromosomal region 1	65										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		TTCCAGCCCCTTTTGAAAGGT	0.468																																						ENST00000314565.4																			0				kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(193-195)cTt>cCt		loss of heterozygosity, 12, chromosomal region 1							163	153	156					12																	12514275		2203	4300	6503	SO:0001583	missense	118426							g.chr12:12514275T>C	AY037865	CCDS8649.1, CCDS73448.1	12p12	2008-07-03			ENSG00000165714	ENSG00000165714			17950	protein-coding gene	gene with protein product						11896457, 15284860	Standard	XR_242885		Approved	LOH1CR12	uc001ral.2	Q969J3	OTTHUMG00000168542	ENST00000314565.4:c.194T>C	12.37:g.12514275T>C	ENSP00000321546:p.Leu65Pro					LOH12CR1_ENST00000298571.6_Intron|LOH12CR1_ENST00000542728.1_Missense_Mutation_p.L46P	p.L65P	NM_058169.3	NP_477517.1	Q969J3	L12R1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0205)	2	525	+		Prostate(47;0.0802)	65					Q96QS5	Missense_Mutation	SNP	ENST00000314565.4	37	c.194T>C	CCDS8649.1	.	.	.	.	.	.	.	.	.	.	T	19.14	3.769467	0.69992	.	.	ENSG00000165714	ENST00000542728;ENST00000314565	T;T	0.52295	0.67;0.67	6.02	6.02	0.97574	.	0.115240	0.64402	D	0.000012	T	0.59851	0.2224	L	0.40543	1.245	0.80722	D	1	D	0.67145	0.996	D	0.64877	0.93	T	0.62338	-0.6875	10	0.87932	D	0	-11.2834	16.2181	0.82241	0.0:0.0:0.0:1.0	.	65	Q969J3	L12R1_HUMAN	P	46;65	ENSP00000443023:L46P;ENSP00000321546:L65P	ENSP00000321546:L65P	L	+	2	0	LOH12CR1	12405542	1.000000	0.71417	1.000000	0.80357	0.468000	0.32798	7.602000	0.82796	2.311000	0.77944	0.533000	0.62120	CTT		0.468	LOH12CR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400150.1			3	153	0	0	0	1	0	3	153					C	12514275	T	C	12514275	3	2	123	1	0	0	0	0	1	0	0	0	8891	1609	56	3	200	3	LOH12CR1	12	12514275	Missense_Mutation	SNP	T	TCGA-DJ-A3UR-01A-11D-A22D-08		12514275	121337620	11	2648											
NACA	4666	broad.mit.edu	37	chr12	57111705	57111705	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctagacctccttttggggaGggaggagttgcagctggggt	18	7	0	1	rs2926746		TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr12:57111705G>A	ENST00000454682.1	-	3	3890	c.3609C>T	c.(3607-3609)ccC>ccT	p.P1203P	NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1203	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTTGGGGAGGGAGGAGTTG	0.642			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3607-3609)ccC>ccT		nascent polypeptide-associated complex alpha subunit							64	76	73					12																	57111705		1233	2868	4101	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57111705G>A	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3609C>T	12.37:g.57111705G>A						NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron	p.P1203P	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3890	-			0						Silent	SNP	ENST00000454682.1	37	c.3609C>T																																																																																					0.642	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		4	148	0	0	0	1	0	4	148					A	57111705	G	A	57111705	2	1	123	1	0	0	0	0	0	0	0	1	10133	987	35	2		2	NACA	12	57111705	Silent	SNP	G	TCGA-DJ-A3UR-01A-11D-A22D-08	44597430	57111705	76740190	12	2649											
ADAMTS7	11173	broad.mit.edu	37	chr15	79056079	79056079	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacccactgcgtgcaggggtGggtgttgcagggccgggtgg	20	10	0	0			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr15:79056079G>T	ENST00000388820.4	-	22	4912	c.4702C>A	c.(4702-4704)Cac>Aac	p.H1568N		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1568					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 chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GTGCAGGGGTGGGTGTTGCAG	0.711																																						ENST00000388820.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(4702-4704)Cac>Aac		ADAM metallopeptidase with thrombospondin type 1 motif, 7							9	11	11					15																	79056079		2109	4154	6263	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79056079G>T	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.4702C>A	15.37:g.79056079G>T	ENSP00000373472:p.His1568Asn						p.H1568N	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			22	4912	-			1568					Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.4702C>A	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	g	18.46	3.628806	0.67015	.	.	ENSG00000136378	ENST00000388820	T	0.52754	0.65	4.42	4.42	0.53409	.	0.201008	0.43260	D	0.000593	T	0.47229	0.1434	L	0.33245	0.995	0.45733	D	0.99863	P	0.48998	0.918	P	0.49477	0.612	T	0.50466	-0.8825	10	0.52906	T	0.07	.	15.5879	0.76499	0.0:0.0:1.0:0.0	.	1568	Q9UKP4	ATS7_HUMAN	N	1568	ENSP00000373472:H1568N	ENSP00000373472:H1568N	H	-	1	0	ADAMTS7	76843134	1.000000	0.71417	0.997000	0.53966	0.604000	0.37047	7.237000	0.78164	1.985000	0.57927	0.574000	0.79327	CAC		0.711	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		3	32	1	0	1	1	1	3	32					T	79056079	G	T	79056079	3	4	123	1	0	0	0	0	1	0	0	0	271	1348	47	4	370	4	ADAMTS7	15	79056079	Missense_Mutation	SNP	G	TCGA-DJ-A3UR-01A-11D-A22D-08		79056079	23475313	13	2650											
KIAA0430	9665	broad.mit.edu	37	chr16	15710963	15710963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagactgtgaacctggggcGcaaatgtcttcaaagaaaga	12	7	2	4			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr16:15710963G>A	ENST00000396368.3	-	15	3229	c.3023C>T	c.(3022-3024)gCg>gTg	p.A1008V	KIAA0430_ENST00000344181.3_Intron|KIAA0430_ENST00000540441.2_Missense_Mutation_p.A843V|KIAA0430_ENST00000548025.1_Missense_Mutation_p.A1005V|KIAA0430_ENST00000602337.1_Missense_Mutation_p.A1005V|KIAA0430_ENST00000551742.1_Missense_Mutation_p.A1008V	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1008	HTH OST-type 2. {ECO:0000255|PROSITE- ProRule:PRU00975}.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						AACCTGGGGCGCAAATGTCTT	0.438																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(3022-3024)gCg>gTg		KIAA0430							103	101	102					16																	15710963		1871	4109	5980	SO:0001583	missense	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15710963G>A	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29562	protein-coding gene	gene with protein product	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.3023C>T	16.37:g.15710963G>A	ENSP00000379654:p.Ala1008Val					KIAA0430_ENST00000540441.2_Missense_Mutation_p.A843V|KIAA0430_ENST00000344181.3_Intron|KIAA0430_ENST00000602337.1_Missense_Mutation_p.A1005V|KIAA0430_ENST00000551742.1_Missense_Mutation_p.A1008V|KIAA0430_ENST00000548025.1_Missense_Mutation_p.A1005V	p.A1008V	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN			15	3229	-			1007					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	c.3023C>T	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699770	0.88924	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000548025;ENST00000551742	.	.	.	5.47	5.47	0.80525	.	0.056669	0.64402	D	0.000001	T	0.57917	0.2086	L	0.59436	1.845	0.80722	D	1	P;P;P;P	0.46656	0.854;0.882;0.882;0.772	B;B;B;B	0.40782	0.195;0.34;0.34;0.096	T	0.61307	-0.7089	9	0.44086	T	0.13	.	19.3392	0.94335	0.0:0.0:1.0:0.0	.	1007;1005;1004;1007	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	V	1008;843;1007;1005;1008	.	ENSP00000315718:A1007V	A	-	2	0	KIAA0430	15618464	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	5.974000	0.70465	2.568000	0.86640	0.561000	0.74099	GCG		0.438	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		3	68	0	0	0	1	0	3	68					A	15710963	G	A	15710963	3	1	123	1	0	0	0	0	1	0	0	0	8177	1087	38	1	2257	1	KIAA0430	16	15710963	Missense_Mutation	SNP	G	TCGA-DJ-A3UR-01A-11D-A22D-08		15710963	74643790	14	2651											
MYO15A	51168	broad.mit.edu	37	chr17	18029723	18029723	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtttggaatctatgggccGgagcaggtgcagcagtacaa	14	7	1	0	rs577577209		TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr17:18029723G>A	ENST00000205890.5	+	5	4157	c.3819G>A	c.(3817-3819)ccG>ccA	p.P1273P		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1273	Myosin motor.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TCTATGGGCCGGAGCAGGTGC	0.622																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(3817-3819)ccG>ccA		myosin XVA							66	72	70					17																	18029723		2050	4193	6243	SO:0001819	synonymous_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18029723G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.3819G>A	17.37:g.18029723G>A							p.P1273P	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			5	4157	+	all_neural(463;0.228)		1273			Myosin head-like.		B4DFC7	Silent	SNP	ENST00000205890.5	37	c.3819G>A	CCDS42271.1																																																																																				0.622	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		3	88	0	0	0	1	0	3	88					A	18029723	G	A	18029723	2	1	123	1	0	0	0	0	0	0	0	1	10063	1103	39	1		1	MYO15A	17	18029723	Silent	SNP	G	TCGA-DJ-A3UR-01A-11D-A22D-08		18029723	63165487	15	2652											
MUC16	94025	broad.mit.edu	37	chr19	9090831	9090831	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttagtgtcatggaaaaAgggatagctgagttgggcat	14	4	1	1			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(982-984)ccT>ccC		mucin 16, cell surface associated							96	95	96					19																	9090831		2041	4195	6236	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090831A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.984T>C	19.37:g.9090831A>G							p.P328P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	1187	-			328			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.984T>C	CCDS54212.1																																																																																				0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		3	100	0	0	0	1	0	3	100					G	9090831	A	G	9090831	2	3	123	1	0	0	0	0	0	0	0	1	9973	59	3	3		3	MUC16	19	9090831	Silent	SNP	A	TCGA-DJ-A3UR-01A-11D-A22D-08		9090831	50038152	16	2653											
CYP2A13	1553	broad.mit.edu	37	chr19	41599590	41599590	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacctggtgatgaccacccTgaacctcttctttgcgggca	10	13	2	3	rs202067963		TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr19:41599590T>C	ENST00000330436.3	+	6	887	c.887T>C	c.(886-888)cTg>cCg	p.L296P		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	296					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	ATGACCACCCTGAACCTCTTC	0.557																																						ENST00000330436.3																			0				breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42						c.(886-888)cTg>cCg		cytochrome P450, family 2, subfamily A, polypeptide 13	Clomipramine(DB01242)|Nicotine(DB00184)						119	99	106					19																	41599590		2203	4300	6503	SO:0001583	missense	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41599590T>C	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"Cytochrome P450s"	2608	protein-coding gene	gene with protein product		608055	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.887T>C	19.37:g.41599590T>C	ENSP00000332679:p.Leu296Pro						p.L296P	NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN			6	887	+			296					Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	ENST00000330436.3	37	c.887T>C	CCDS12571.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	.	17.17	3.322080	0.60634	.	.	ENSG00000197838	ENST00000330436	T	0.01505	4.82	4.58	3.56	0.40772	.	0.089700	0.47093	D	0.000254	T	0.08626	0.0214	M	0.76838	2.35	0.53005	D	0.999966	D	0.89917	1.0	D	0.97110	1.0	T	0.01448	-1.1352	10	0.51188	T	0.08	.	9.3287	0.38008	0.0:0.0879:0.0:0.9121	.	296	Q16696	CP2AD_HUMAN	P	296	ENSP00000332679:L296P	ENSP00000332679:L296P	L	+	2	0	CYP2A13	46291430	0.425000	0.25498	0.196000	0.23383	0.900000	0.52787	3.583000	0.53928	0.800000	0.34041	0.397000	0.26171	CTG		0.557	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		3	118	0	0	0	1	0	3	118					C	41599590	T	C	41599590	3	2	123	1	0	0	0	0	1	0	0	0	4161	1580	55	3	909	3	CYP2A13	19	41599590	Missense_Mutation	SNP	T	TCGA-DJ-A3UR-01A-11D-A22D-08	32508759	41599590	17529393	17	2654											
GP6	51206	broad.mit.edu	37	chr19	55525819	55525819	+	3'UTR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaggagatttgttagaccGcagtgggagatggagtgagg	18	3	0	4			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr19:55525819G>A	ENST00000417454.1	-	0	1517				CTC-550B14.7_ENST00000593060.1_RNA|CTC-550B14.7_ENST00000586845.1_RNA|GP6_ENST00000310373.3_Silent_p.C498C|GP6_ENST00000333884.2_3'UTR	NM_016363.4	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)						blood coagulation (GO:0007596)|enzyme linked receptor protein signaling pathway (GO:0007167)|leukocyte migration (GO:0050900)|platelet activation (GO:0030168)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	collagen binding (GO:0005518)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		TTGTTAGACCGCAGTGGGAGA	0.502																																						ENST00000310373.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1492-1494)tgC>tgT		glycoprotein VI (platelet)							104	103	103					19																	55525819		1955	4151	6106	SO:0001624	3_prime_UTR_variant	51206				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity	g.chr19:55525819G>A	AB035073	CCDS42626.1, CCDS46184.1, CCDS58678.1	19q13.4	2013-01-29			ENSG00000088053	ENSG00000088053		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14388	protein-coding gene	gene with protein product		605546				11027634	Standard	NM_001083899		Approved	GPVI	uc002qil.3	Q9HCN6	OTTHUMG00000159709	ENST00000417454.1:c.*470C>T	19.37:g.55525819G>A						GP6_ENST00000417454.1_3'UTR|CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000333884.2_3'UTR	p.C498C	NM_001083899.1	NP_001077368.1	Q9HCN6	GPVI_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)	8	1521	-			0					Q9HCN7|Q9UIF2	Silent	SNP	ENST00000417454.1	37	c.1494C>T	CCDS46184.1																																																																																				0.502	GP6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357006.1			4	147	0	0	0	1	0	4	147					A	55525819	G	A	55525819	1	1	123	0	1	0	0	0	0	0	0	0	6584	1079	38	1		1	GP6	19	55525819	3'UTR	SNP	G	TCGA-DJ-A3UR-01A-11D-A22D-08	13926229	55525819	3603164	18	2655											
ZNF211	10520	broad.mit.edu	37	chr19	58152518	58152518	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaacaagtgtgcggtggccTtttacagtggaaaaagtcat	12	6	1	0			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr19:58152518T>C	ENST00000347302.3	+	3	843	c.664T>C	c.(664-666)Ttt>Ctt	p.F222L	ZNF211_ENST00000544273.1_Missense_Mutation_p.F234L|ZNF211_ENST00000541801.1_Missense_Mutation_p.F213L|ZNF211_ENST00000420680.1_Missense_Mutation_p.F226L|ZNF211_ENST00000299871.5_Missense_Mutation_p.F287L|ZNF211_ENST00000254182.7_Missense_Mutation_p.F213L|ZNF211_ENST00000240731.4_Missense_Mutation_p.F235L|ZNF211_ENST00000391703.3_Missense_Mutation_p.F161L	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	222					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(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGCGGTGGCCTTTTACAGTGG	0.468																																						ENST00000544273.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(700-702)Ttt>Ctt		zinc finger protein 211							64	65	65					19																	58152518		2203	4300	6503	SO:0001583	missense	0					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58152518T>C	U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"Zinc fingers, C2H2-type", "-"	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.664T>C	19.37:g.58152518T>C	ENSP00000339562:p.Phe222Leu					ZNF211_ENST00000420680.1_Missense_Mutation_p.F226L|ZNF211_ENST00000391703.3_Missense_Mutation_p.F161L|ZNF211_ENST00000347302.3_Missense_Mutation_p.F222L|ZNF211_ENST00000541801.1_Missense_Mutation_p.F213L|ZNF211_ENST00000254182.7_Missense_Mutation_p.F213L|ZNF211_ENST00000240731.4_Missense_Mutation_p.F235L|ZNF211_ENST00000299871.5_Missense_Mutation_p.F287L	p.F234L			Q13398	ZN211_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1027	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	222					B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	ENST00000347302.3	37	c.700T>C	CCDS12957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.61|12.61	1.990381|1.990381	0.35131|0.35131	.|.	.|.	ENSG00000121417|ENSG00000121417	ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731|ENST00000407202	T;T;T;T;T;T;T;T|.	0.46063|.	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88|.	3.24|3.24	1.12|1.12	0.20585|0.20585	.|.	.|.	.|.	.|.	.|.	T|T	0.53690|0.53690	0.1812|0.1812	M|M	0.77406|0.77406	2.37|2.37	0.09310|0.09310	N|N	1|1	B;B;P;B;B;B|.	0.47106|.	0.005;0.023;0.89;0.2;0.014;0.014|.	B;B;P;B;B;B|.	0.45881|.	0.002;0.01;0.496;0.069;0.004;0.004|.	T|T	0.46707|0.46707	-0.9172|-0.9172	9|5	0.62326|.	D|.	0.03|.	.|.	7.1857|7.1857	0.25799|0.25799	0.0:0.2075:0.0:0.7925|0.0:0.2075:0.0:0.7925	.|.	226;234;287;213;222;235|.	Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1|.	.;.;.;.;ZN211_HUMAN;.|.	L|P	226;222;213;161;213;287;234;235|225	ENSP00000399193:F226L;ENSP00000339562:F222L;ENSP00000254182:F213L;ENSP00000375584:F161L;ENSP00000442601:F213L;ENSP00000299871:F287L;ENSP00000441386:F234L;ENSP00000240731:F235L|.	ENSP00000240731:F235L|.	F|L	+|+	1|2	0|0	ZNF211|ZNF211	62844330|62844330	.|.	.|.	0.000000|0.000000	0.03702|0.03702	0.023000|0.023000	0.10783|0.10783	.|.	.|.	0.175000|0.175000	0.19841|0.19841	0.482000|0.482000	0.46254|0.46254	TTT|CTT		0.468	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1			3	97	0	0	0	1	0	3	97					C	58152518	T	C	58152518	3	2	123	1	0	0	0	0	1	0	0	0	17764	1609	56	3	717	3	ZNF211	19	58152518	Missense_Mutation	SNP	T	TCGA-DJ-A3UR-01A-11D-A22D-08	2626699	58152518	976465	19	2656											
GNAS	2778	broad.mit.edu	37	chr20	57429071	57429071	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagttatcgcacaagtcgacGgcagcagccagttcgcggca	13	12	0	0			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr20:57429071G>C	ENST00000371100.4	+	1	1303	c.751G>C	c.(751-753)Ggc>Cgc	p.G251R	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.G251R|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.G251R|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000306120.3_Silent_p.T187T	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)			ACAAGTCGACGGCAGCAGCCA	0.677			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.(751-753)Ggc>Cgc		GNAS complex locus							10	12	11					20																	57429071		1813	3983	5796	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.chr20:57429071G>C	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.751G>C	20.37:g.57429071G>C	ENSP00000360141:p.Gly251Arg	TSP Lung(22;0.16)				GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.G251R|GNAS_ENST00000371102.4_Missense_Mutation_p.G251R|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000306120.3_Silent_p.T187T|GNAS_ENST00000603534.1_Intron	p.G251R	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	1303	+	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.751G>C	CCDS46622.1	.	.	.	.	.	.	.	.	.	.	G	1.121	-0.655164	0.03480	.	.	ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102	D;D	0.88664	-2.41;-2.41	3.85	-4.71	0.03279	.	29.331100	0.00166	N	0.000000	T	0.75019	0.3793	N	0.19112	0.55	0.09310	N	1	P	0.49862	0.929	B	0.40702	0.338	T	0.70916	-0.4742	10	0.16420	T	0.52	.	0.2707	0.00231	0.3454:0.1391:0.2327:0.2827	.	251	Q5JWF2	GNAS1_HUMAN	R	251	ENSP00000360141:G251R;ENSP00000360143:G251R	ENSP00000360140:G251R	G	+	1	0	GNAS	56862466	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.288000	0.02783	-0.898000	0.03906	-0.218000	0.12543	GGC		0.677	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3	NM_000516		15	14	0	0	0	1	0	15	14					C	57429071	G	C	57429071	3	2	123	1	0	0	0	0	1	0	0	0	6510	1116	39	4	1495	4	GNAS	20	57429071	Missense_Mutation	SNP	G	TCGA-DJ-A3UR-01A-11D-A22D-08		57429071	5596449	20	2657											
RIPK4	54101	broad.mit.edu	37	chr21	43161491	43161491	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacaggtcgatgaggatgCgggccacgcggtagtgcccg	17	11	0	1	rs56056485		TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr21:43161491C>T	ENST00000352483.2	-	9	2070	c.2006G>A	c.(2005-2007)cGc>cAc	p.R669H	RIPK4_ENST00000544709.1_Missense_Mutation_p.R558H|RIPK4_ENST00000332512.3_Missense_Mutation_p.R621H|RIPK4_ENST00000542057.1_Missense_Mutation_p.R558H|AP001615.9_ENST00000423276.1_RNA			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	669			R -> H. {ECO:0000269|PubMed:17344846}.		morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GATGAGGATGCGGGCCACGCG	0.692																																						ENST00000352483.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(2005-2007)cGc>cAc		receptor-interacting serine-threonine kinase 4		C	HIS/ARG	2,4402	4.2+/-10.8	0,2,2200	57	59	59		1862	4.9	1.0	21	dbSNP_129	59	1,8595	1.2+/-3.3	0,1,4297	no	missense	RIPK4	NM_020639.2	29	0,3,6497	TT,TC,CC		0.0116,0.0454,0.0231	possibly-damaging	621/785	43161491	3,12997	2202	4298	6500	SO:0001583	missense	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161491C>T	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"Ankyrin repeat domain containing"	496	protein-coding gene	gene with protein product	"protein kinase C-associated kinase", "PKC-delta-interacting protein kinase"	605706	"ankyrin repeat domain 3"	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.2006G>A	21.37:g.43161491C>T	ENSP00000330161:p.Arg669His					RIPK4_ENST00000544709.1_Missense_Mutation_p.R558H|RIPK4_ENST00000542057.1_Missense_Mutation_p.R558H|RIPK4_ENST00000332512.3_Missense_Mutation_p.R621H	p.R669H			Q96T11	Q96T11_HUMAN			9	2070	-			621					Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	37	c.2006G>A		.	.	.	.	.	.	.	.	.	.	C	25.8	4.674371	0.88445	4.54E-4	1.16E-4	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057	T;T;T;T	0.65732	-0.16;-0.17;2.36;2.36	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000007	T	0.78000	0.4215	M	0.67700	2.07	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.80728	-0.1253	10	0.72032	D	0.01	-42.4601	17.1066	0.86665	0.0:1.0:0.0:0.0	rs56056485	621	P57078-2	.	H	621;669;558;558	ENSP00000332454:R621H;ENSP00000330161:R669H;ENSP00000441754:R558H;ENSP00000442901:R558H	ENSP00000332454:R621H	R	-	2	0	RIPK4	42034560	1.000000	0.71417	0.952000	0.39060	0.902000	0.53008	5.554000	0.67294	2.261000	0.74972	0.655000	0.94253	CGC		0.692	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		4	231	0	0	0	1	0	4	231					T	43161491	C	T	43161491	3	4	123	1	0	0	0	0	1	0	0	0	13383	768	27	1	496	1	RIPK4	21	43161491	Missense_Mutation	SNP	C	TCGA-DJ-A3UR-01A-11D-A22D-08		43161491	4968404	21	2658											
HCCS	3052	broad.mit.edu	37	chrX	11139095	11139095	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagtattcaccaagggcacGaattcgttcctggatggggt	13	8	1	1			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chrX:11139095G>A	ENST00000321143.4	+	6	792	c.590G>A	c.(589-591)cGa>cAa	p.R197Q	HCCS_ENST00000380763.3_Missense_Mutation_p.R197Q|ARHGAP6_ENST00000534860.1_Intron|HCCS_ENST00000380762.4_Missense_Mutation_p.R197Q	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	197					organ morphogenesis (GO:0009887)|oxidation-reduction process (GO:0055114)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	holocytochrome-c synthase activity (GO:0004408)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)	7						CCAAGGGCACGAATTCGTTCC	0.453																																					Ovarian(86;1338 1347 1462 10340 37882)	ENST00000321143.4																			0				kidney(1)|large_intestine(3)|lung(3)	7						c.(589-591)cGa>cAa		holocytochrome c synthase							196	176	183					X																	11139095		2203	4300	6503	SO:0001583	missense	3052				organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding	g.chrX:11139095G>A		CCDS14139.1	Xp22	2014-01-31	2010-05-11		ENSG00000004961	ENSG00000004961	4.4.1.17		4837	protein-coding gene	gene with protein product	"cytochrome c heme-lyase"	300056	"holocytochrome c synthase (cytochrome c heme-lyase)", "microphthalamia with linear skin defects"	MLS		8364577, 12444108	Standard	NM_001122608		Approved	CCHL	uc004cuj.3	P53701	OTTHUMG00000021128	ENST00000321143.4:c.590G>A	X.37:g.11139095G>A	ENSP00000326579:p.Arg197Gln					HCCS_ENST00000380763.3_Missense_Mutation_p.R197Q|ARHGAP6_ENST00000534860.1_Intron|HCCS_ENST00000380762.4_Missense_Mutation_p.R197Q	p.R197Q	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN			6	792	+			197					B3KUS1|Q502X8	Missense_Mutation	SNP	ENST00000321143.4	37	c.590G>A	CCDS14139.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.915362	0.73098	.	.	ENSG00000004961	ENST00000321143;ENST00000380763;ENST00000380762	D;D;D	0.83335	-1.71;-1.71;-1.71	5.94	4.17	0.49024	.	0.085015	0.85682	D	0.000000	D	0.86711	0.5998	M	0.79123	2.44	0.80722	D	1	D	0.56746	0.977	P	0.54629	0.757	D	0.86340	0.1704	10	0.51188	T	0.08	-15.4568	9.0573	0.36414	0.1789:0.0:0.8211:0.0	.	197	P53701	CCHL_HUMAN	Q	197	ENSP00000326579:R197Q;ENSP00000370140:R197Q;ENSP00000370139:R197Q	ENSP00000326579:R197Q	R	+	2	0	HCCS	11049016	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	6.123000	0.71614	1.271000	0.44313	0.600000	0.82982	CGA		0.453	HCCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055742.1			11	244	0	0	0	1	0	11	244					A	11139095	G	A	11139095	3	1	123	1	0	0	0	0	1	0	0	0	6990	1058	37	1	608	1	HCCS	23	11139095	Missense_Mutation	SNP	G	TCGA-DJ-A3UR-01A-11D-A22D-08		11139095	144131465	22	2659											
RBM10	8241	broad.mit.edu	37	chrX	47030582	47030582	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggaggaggaggaGgatgaggaggaggaggagaa	25	0	0	2			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chrX:47030582G>T	ENST00000377604.3	+	4	1099	c.357G>T	c.(355-357)gaG>gaT	p.E119D	RBM10_ENST00000345781.6_Intron|RBM10_ENST00000329236.7_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	119	Poly-Glu.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						aggaggaggaggatgaggagg	0.662																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						c.(355-357)gaG>gaT		RNA binding motif protein 10							20	19	19					X																	47030582		2202	4294	6496	SO:0001583	missense	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47030582G>T	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.357G>T	X.37:g.47030582G>T	ENSP00000366829:p.Glu119Asp					RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron	p.E119D	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN			4	1099	+			119			Poly-Glu.		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	37	c.357G>T	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	7.514	0.655267	0.14580	.	.	ENSG00000182872	ENST00000377604	T	0.11169	2.8	3.1	1.15	0.20763	Nucleotide-binding, alpha-beta plait (1);	0.859005	0.09469	N	0.797951	T	0.04815	0.0130	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.38628	-0.9652	10	0.11182	T	0.66	-1.7872	6.9396	0.24486	0.0:0.0:0.4873:0.5127	.	184;119;119	Q7Z3D7;P98175-2;P98175	.;.;RBM10_HUMAN	D	119	ENSP00000366829:E119D	ENSP00000366829:E119D	E	+	3	2	RBM10	46915526	1.000000	0.71417	0.776000	0.31678	0.914000	0.54420	0.961000	0.29267	0.165000	0.19558	0.502000	0.49764	GAG		0.662	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		3	36	1	0	0.115264	1	0.128824	3	36					T	47030582	G	T	47030582	3	4	123	1	0	0	0	0	1	0	0	0	13111	991	35	4	367	4	RBM10	23	47030582	Missense_Mutation	SNP	G	TCGA-DJ-A3UR-01A-11D-A22D-08	35891487	47030582	108239978	23	2660											
ILDR2	387597	broad.mit.edu	37	chr1	166889963	166889963	+	Frame_Shift_Del	DEL	T	T	-													cggttttcttggcgggctccTttttcctcttcttctccgag							TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr1:166889963delT	ENST00000271417.3	-	9	1920	c.1865delA	c.(1864-1866)aagfs	p.K622fs	ILDR2_ENST00000526687.1_Frame_Shift_Del_p.K514fs|ILDR2_ENST00000469934.2_Intron|ILDR2_ENST00000528703.1_Frame_Shift_Del_p.K563fs|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000525740.1_Frame_Shift_Del_p.K495fs|ILDR2_ENST00000529071.1_Frame_Shift_Del_p.K603fs	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	622					cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GGCGGGCTCCTTTTTCCTCTT	0.682																																						ENST00000271417.3																			0				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						c.(1864-1866)agfs		immunoglobulin-like domain containing receptor 2							10	14	12					1																	166889963		2173	4245	6418	SO:0001589	frameshift_variant	387597					integral to membrane		g.chr1:166889963delT	AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"LISCH-like"		"chromosome 1 open reading frame 32"	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.1865delA	1.37:g.166889963delT	ENSP00000271417:p.Lys622fs					ILDR2_ENST00000525740.1_Frame_Shift_Del_p.K495fs|ILDR2_ENST00000526687.1_Frame_Shift_Del_p.K514fs|ILDR2_ENST00000469934.2_Intron|ILDR2_ENST00000528703.1_Frame_Shift_Del_p.K563fs|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000529071.1_Frame_Shift_Del_p.K603fs	p.K622fs	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN			9	1920	-			622						Frame_Shift_Del	DEL	ENST00000271417.3	37	c.1865delA	CCDS1256.1																																																																																				0.682	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351		2	4						2	4	---	---	---	---	-	166889963	T	-	166889963	7	5	124	1	0	1	0	1	0	0	0	0	7710	1609	56	0	62	0	ILDR2	1	166889963	Frame_Shift_Del	DEL	T	TCGA-DJ-A3US-01A-11D-A22D-08		166889963	82360658	1	2661											
C4BPA	722	broad.mit.edu	37	chr1	207317265	207317265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaatgtgattctggctatgGtgtggttggtccccaaagta	12	8	1	1			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr1:207317265G>A	ENST00000367070.3	+	11	1741	c.1547G>A	c.(1546-1548)gGt>gAt	p.G516D		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	516	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TCTGGCTATGGTGTGGTTGGT	0.473																																						ENST00000367070.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(1546-1548)gGt>gAt		complement component 4 binding protein, alpha							217	188	198					1																	207317265		2203	4300	6503	SO:0001583	missense	722				complement activation, classical pathway|innate immune response	extracellular region	protein binding	g.chr1:207317265G>A	M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"complement component 4-binding protein, alpha"	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.1547G>A	1.37:g.207317265G>A	ENSP00000356037:p.Gly516Asp						p.G516D	NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN			11	1741	+			516			Sushi 8.		Q5VVQ8	Missense_Mutation	SNP	ENST00000367070.3	37	c.1547G>A	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	G	6.049	0.377326	0.11466	.	.	ENSG00000123838	ENST00000367070	T	0.63417	-0.04	5.29	-10.6	0.00265	Complement control module (2);Sushi/SCR/CCP (3);	3.283670	0.00481	N	0.000121	T	0.35998	0.0951	N	0.14661	0.345	0.09310	N	1	B	0.28208	0.203	B	0.31614	0.133	T	0.19289	-1.0310	10	0.12430	T	0.62	.	5.1886	0.15197	0.5668:0.2352:0.1073:0.0907	.	516	P04003	C4BPA_HUMAN	D	516	ENSP00000356037:G516D	ENSP00000356037:G516D	G	+	2	0	C4BPA	205383888	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.147000	0.03188	-2.162000	0.00784	-0.157000	0.13467	GGT		0.473	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3			19	88	0	0	0	1	0	19	88					A	207317265	G	A	207317265	3	1	124	1	0	0	0	0	1	0	0	0	2249	1261	44	2	1585	2	C4BPA	1	207317265	Missense_Mutation	SNP	G	TCGA-DJ-A3US-01A-11D-A22D-08	40427302	207317265	41933356	2	2662											
TRANK1	9881	broad.mit.edu	37	chr3	36873948	36873948	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttttatcctgctgcctcTccccctgcccctttcatcct	3	20	2	0	rs201976066		TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr3:36873948T>C	ENST00000429976.2	-	21	7241	c.6994A>G	c.(6994-6996)Aga>Gga	p.R2332G	TRANK1_ENST00000428977.2_Missense_Mutation_p.R1782G|TRANK1_ENST00000301807.6_Missense_Mutation_p.R1782G	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2332							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTGCTGCCTCTCCCCCTGCCC	0.507																																						ENST00000429976.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(6994-6996)Aga>Gga		tetratricopeptide repeat and ankyrin repeat containing 1							117	119	118					3																	36873948		1918	4122	6040	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36873948T>C	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.6994A>G	3.37:g.36873948T>C	ENSP00000416168:p.Arg2332Gly					TRANK1_ENST00000428977.2_Missense_Mutation_p.R1782G|TRANK1_ENST00000301807.6_Missense_Mutation_p.R1782G	p.R2332G			O15050	TRNK1_HUMAN			21	7241	-			2332					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.6994A>G	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	T	3.576	-0.086656	0.07097	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.34072	1.38;1.78;1.38	5.16	-2.15	0.07102	.	0.178818	0.26696	N	0.022979	T	0.23171	0.0560	L	0.29908	0.895	0.09310	N	1	B	0.23937	0.094	B	0.21917	0.037	T	0.28964	-1.0027	10	0.54805	T	0.06	.	11.3034	0.49320	0.0:0.0721:0.5657:0.3622	.	2332	O15050	TRNK1_HUMAN	G	1782;2332;1782	ENSP00000416826:R1782G;ENSP00000416168:R2332G;ENSP00000301807:R1782G	ENSP00000301807:R1782G	R	-	1	2	TRANK1	36848952	0.000000	0.05858	0.000000	0.03702	0.293000	0.27360	0.313000	0.19415	0.021000	0.15133	0.459000	0.35465	AGA		0.507	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		3	109	0	0	0	1	0	3	109					C	36873948	T	C	36873948	3	2	124	1	0	0	0	0	1	0	0	0	16451	1559	54	3	1795	3	TRANK1	3	36873948	Missense_Mutation	SNP	T	TCGA-DJ-A3US-01A-11D-A22D-08		36873948	161148482	3	2663											
SMARCA5	8467	broad.mit.edu	37	chr4	144467147	144467147	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aacagcttaaaattgatgaaGctgaatcccttaatgatgaa	7	6	0	5			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr4:144467147G>C	ENST00000283131.3	+	19	2929	c.2467G>C	c.(2467-2469)Gct>Cct	p.A823P		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	823					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					AATTGATGAAGCTGAATCCCT	0.358																																						ENST00000283131.3																		EWSR1/SMARCA5(2)	0				endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(2467-2469)Gct>Cct		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5							83	86	85					4																	144467147		2203	4300	6503	SO:0001583	missense	8467				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding	g.chr4:144467147G>C	AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.2467G>C	4.37:g.144467147G>C	ENSP00000283131:p.Ala823Pro						p.A823P	NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN			19	2929	+	all_hematologic(180;0.158)		823						Missense_Mutation	SNP	ENST00000283131.3	37	c.2467G>C	CCDS3761.1	.	.	.	.	.	.	.	.	.	.	G	29.4	4.999194	0.93227	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	D	0.91740	-2.9	5.3	5.3	0.74995	ATPase, nucleosome remodelling ISWI, HAND domain (2);	0.000000	0.85682	D	0.000000	D	0.93419	0.7901	M	0.85299	2.745	0.80722	D	1	B	0.24675	0.109	B	0.29942	0.109	D	0.91230	0.5013	10	0.39692	T	0.17	-5.3827	19.336	0.94319	0.0:0.0:1.0:0.0	.	823	O60264	SMCA5_HUMAN	P	823;766;766	ENSP00000283131:A823P	ENSP00000283131:A823P	A	+	1	0	SMARCA5	144686597	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.168000	0.94781	2.643000	0.89663	0.655000	0.94253	GCT		0.358	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			29	44	0	0	0	1	0	29	44					C	144467147	G	C	144467147	3	2	124	1	0	0	0	0	1	0	0	0	14771	971	34	4	2541	4	SMARCA5	4	144467147	Missense_Mutation	SNP	G	TCGA-DJ-A3US-01A-11D-A22D-08		144467147	46687129	4	2664											
FAT2	2196	broad.mit.edu	37	chr5	150932824	150932824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggtccgtctccatgaccGtaaagctgtagtaggtctca	11	11	2	1			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr5:150932824G>A	ENST00000261800.5	-	5	4082	c.4070C>T	c.(4069-4071)aCg>aTg	p.T1357M		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1357	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCCATGACCGTAAAGCTGTA	0.587																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(4069-4071)aCg>aTg		FAT atypical cadherin 2							110	95	100					5																	150932824		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150932824G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.4070C>T	5.37:g.150932824G>A	ENSP00000261800:p.Thr1357Met						p.T1357M	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	4082	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1357			Cadherin 12.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.4070C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942923	0.73672	.	.	ENSG00000086570	ENST00000261800	T	0.54071	0.59	5.38	4.47	0.54385	Cadherin (3);Cadherin-like (1);	0.325213	0.25762	N	0.028464	T	0.63343	0.2503	M	0.74881	2.28	0.09310	N	0.999997	D	0.63880	0.993	P	0.55055	0.767	T	0.59257	-0.7488	10	0.66056	D	0.02	.	10.3587	0.43980	0.0:0.1453:0.704:0.1507	.	1357	Q9NYQ8	FAT2_HUMAN	M	1357	ENSP00000261800:T1357M	ENSP00000261800:T1357M	T	-	2	0	FAT2	150913017	0.967000	0.33354	0.795000	0.32087	0.986000	0.74619	5.130000	0.64745	2.524000	0.85096	0.561000	0.74099	ACG		0.587	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		3	118	0	0	0	1	0	3	118					A	150932824	G	A	150932824	3	1	124	1	0	0	0	0	1	0	0	0	5690	1145	40	1	9055	1	FAT2	5	150932824	Missense_Mutation	SNP	G	TCGA-DJ-A3US-01A-11D-A22D-08		150932824	29982436	5	2665											
IL33	90865	broad.mit.edu	37	chr9	6251164	6251164	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagcacaaaagacatctggTactcgctgcctgtcaacagc	8	12	2	1			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr9:6251164T>C	ENST00000381434.3	+	3	255	c.242T>C	c.(241-243)gTa>gCa	p.V81A	IL33_ENST00000456383.2_Missense_Mutation_p.V81A|IL33_ENST00000417746.2_Intron	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	81	Interaction with RELA. {ECO:0000250}.				extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of immunoglobulin secretion (GO:0051025)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type 2 immune response (GO:0002830)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|nucleus (GO:0005634)	cytokine activity (GO:0005125)			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		AGACATCTGGTACTCGCTGCC	0.468																																						ENST00000381434.3																			0				breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16						c.(241-243)gTa>gCa		interleukin 33							173	135	148					9																	6251164		2203	4300	6503	SO:0001583	missense	90865				positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity	g.chr9:6251164T>C	AB024518	CCDS6468.1, CCDS56563.1, CCDS56564.1	9p24.1	2014-01-28	2006-11-20	2006-11-20	ENSG00000137033	ENSG00000137033		"Interleukins and interleukin receptors"	16028	protein-coding gene	gene with protein product	"DVS27-related protein", "nuclear factor for high endothelial venules", "interleukin-1 family, member 11"	608678	"chromosome 9 open reading frame 26 (NF-HEV)"	C9orf26		10566975, 12819012	Standard	NM_033439		Approved	DVS27, DKFZp586H0523, NF-HEV, IL1F11	uc003zjt.3	O95760	OTTHUMG00000019516	ENST00000381434.3:c.242T>C	9.37:g.6251164T>C	ENSP00000370842:p.Val81Ala					IL33_ENST00000456383.2_Missense_Mutation_p.V81A|IL33_ENST00000417746.2_Intron	p.V81A	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)	3	255	+		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)	81					B2R8L1|B4DJ35|B4E1Q9|D3DRI5|E7EAX4|Q2YEJ5	Missense_Mutation	SNP	ENST00000381434.3	37	c.242T>C	CCDS6468.1	.	.	.	.	.	.	.	.	.	.	T	7.617	0.676077	0.14841	.	.	ENSG00000137033	ENST00000456383;ENST00000381434	T;T	0.40225	1.04;1.04	3.17	-2.35	0.06684	.	4.389550	0.00357	N	0.000038	T	0.27524	0.0676	N	0.21097	0.63	0.09310	N	1	B;B	0.20550	0.046;0.017	B;B	0.15484	0.013;0.007	T	0.12344	-1.0551	10	0.41790	T	0.15	5.7744	4.1976	0.10450	0.0:0.4287:0.212:0.3592	.	81;81	B4E1Q9;O95760	.;IL33_HUMAN	A	81	ENSP00000414238:V81A;ENSP00000370842:V81A	ENSP00000370842:V81A	V	+	2	0	IL33	6241164	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.583000	0.05807	-0.486000	0.06744	-0.417000	0.06048	GTA		0.468	IL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051655.1	NM_033439		3	66	0	0	0	1	0	3	66					C	6251164	T	C	6251164	3	2	124	1	0	0	0	0	1	0	0	0	7693	1638	57	3	252	3	IL33	9	6251164	Missense_Mutation	SNP	T	TCGA-DJ-A3US-01A-11D-A22D-08		6251164	134962267	6	2666											
FAM129B	64855	broad.mit.edu	37	chr9	130270798	130270798	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggagggtctcgaacgtaTacacggcattgtccatttgc	12	10	1	0			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr9:130270798T>C	ENST00000373312.3	-	11	1550	c.1337A>G	c.(1336-1338)tAt>tGt	p.Y446C	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.Y433C	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	446					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CTCGAACGTATACACGGCATT	0.637																																						ENST00000373312.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(1336-1338)tAt>tGt		family with sequence similarity 129, member B							147	140	142					9																	130270798		2203	4300	6503	SO:0001583	missense	64855						protein binding	g.chr9:130270798T>C	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"chromosome 9 open reading frame 88"	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.1337A>G	9.37:g.130270798T>C	ENSP00000362409:p.Tyr446Cys					FAM129B_ENST00000373314.3_Missense_Mutation_p.Y433C|FAM129B_ENST00000468379.1_Intron	p.Y446C	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN			11	1550	-			446					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.1337A>G	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.041419	0.75732	.	.	ENSG00000136830	ENST00000373314;ENST00000538931;ENST00000373312	T;T	0.36520	1.26;1.25	5.36	5.36	0.76844	.	0.056587	0.64402	D	0.000001	T	0.58481	0.2125	M	0.73217	2.22	0.54753	D	0.999988	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.61048	-0.7141	10	0.54805	T	0.06	-32.8097	13.2945	0.60288	0.0:0.0:0.0:1.0	.	96;433;446	F5H3T0;Q96TA1-2;Q96TA1	.;.;NIBL1_HUMAN	C	433;96;446	ENSP00000362411:Y433C;ENSP00000362409:Y446C	ENSP00000362409:Y446C	Y	-	2	0	FAM129B	129310619	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	2.357000	0.44125	2.025000	0.59659	0.459000	0.35465	TAT		0.637	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		13	222	0	0	0	1	0	13	222					C	130270798	T	C	130270798	3	2	124	1	0	0	0	0	1	0	0	0	5437	1406	49	3	919	3	FAM129B	9	130270798	Missense_Mutation	SNP	T	TCGA-DJ-A3US-01A-11D-A22D-08	124019634	130270798	10942633	7	2667											
MMP8	4317	broad.mit.edu	37	chr11	102584153	102584153	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgagcaataagatcaaatgCgtaatatcttggtccactga	8	8	2	3			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr11:102584153C>A	ENST00000236826.3	-	10	1428	c.1330G>T	c.(1330-1332)Gca>Tca	p.A444S		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	444					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	AGATCAAATGCGTAATATCTT	0.343																																						ENST00000236826.3																			0				autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32						c.(1330-1332)Gca>Tca		matrix metallopeptidase 8 (neutrophil collagenase)							160	139	146					11																	102584153		2203	4299	6502	SO:0001583	missense	4317				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding	g.chr11:102584153C>A	J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"matrix metalloproteinase 8 (neutrophil collagenase)"	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.1330G>T	11.37:g.102584153C>A	ENSP00000236826:p.Ala444Ser						p.A444S	NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	10	1428	-	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	444			Hemopexin-like 4.		Q45F99	Missense_Mutation	SNP	ENST00000236826.3	37	c.1330G>T	CCDS8320.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.754916	0.31046	.	.	ENSG00000118113	ENST00000236826;ENST00000544383	T	0.13538	2.58	5.44	3.22	0.36961	Hemopexin/matrixin (2);	0.386473	0.22269	N	0.062295	T	0.13200	0.0320	L	0.44542	1.39	0.21499	N	0.999661	P;B	0.40197	0.706;0.297	B;B	0.40741	0.339;0.339	T	0.10109	-1.0644	10	0.72032	D	0.01	.	8.6612	0.34093	0.0:0.7985:0.0:0.2015	.	444;444	A8K9E4;P22894	.;MMP8_HUMAN	S	444;421	ENSP00000236826:A444S	ENSP00000236826:A444S	A	-	1	0	MMP8	102089363	0.040000	0.19996	0.847000	0.33407	0.216000	0.24613	0.119000	0.15626	1.290000	0.44636	0.563000	0.77884	GCA		0.343	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424		3	97	1	0	0.115264	1	0.118008	3	97					A	102584153	C	A	102584153	3	1	124	1	0	0	0	0	1	0	0	0	9668	768	27	4	77	4	MMP8	11	102584153	Missense_Mutation	SNP	C	TCGA-DJ-A3US-01A-11D-A22D-08		102584153	32422363	8	2668											
LRRC43	254050	broad.mit.edu	37	chr12	122687921	122687921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaccctgagcccctgaccGtagaggtgcagatccagctg	11	15	0	4	rs538569275		TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr12:122687921G>A	ENST00000339777.4	+	12	1931	c.1903G>A	c.(1903-1905)Gta>Ata	p.V635I	B3GNT4_ENST00000546192.1_5'Flank|LRRC43_ENST00000425921.1_Missense_Mutation_p.V450I|B3GNT4_ENST00000535274.1_5'Flank|B3GNT4_ENST00000324189.4_5'Flank	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	635										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GCCCCTGACCGTAGAGGTGCA	0.592													G|||	1	0.000199681	0	0.0014	5008	,	,		11892	0		0	False		,,,				2504	0					ENST00000339777.4																			0				NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1903-1905)Gta>Ata		leucine rich repeat containing 43							74	81	79					12																	122687921		2001	4178	6179	SO:0001583	missense	254050							g.chr12:122687921G>A	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1903G>A	12.37:g.122687921G>A	ENSP00000344233:p.Val635Ile					LRRC43_ENST00000425921.1_Missense_Mutation_p.V450I	p.V635I	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	12	1931	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		635					Q6ZVT9	Missense_Mutation	SNP	ENST00000339777.4	37	c.1903G>A	CCDS45001.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.007965	0.54361	.	.	ENSG00000158113	ENST00000339777;ENST00000289014;ENST00000425921	T;T	0.65178	-0.14;0.34	4.88	4.88	0.63580	.	0.000000	0.64402	D	0.000007	T	0.77864	0.4194	M	0.74881	2.28	0.37340	D	0.910357	D	0.89917	1.0	D	0.71656	0.974	T	0.83041	-0.0157	10	0.66056	D	0.02	-42.254	15.2885	0.73849	0.0:0.0:1.0:0.0	.	635	Q8N309	LRC43_HUMAN	I	635;506;450	ENSP00000344233:V635I;ENSP00000416628:V450I	ENSP00000289014:V506I	V	+	1	0	LRRC43	121253874	0.997000	0.39634	0.992000	0.48379	0.036000	0.12997	2.964000	0.49192	2.433000	0.82419	0.561000	0.74099	GTA		0.592	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		4	98	0	0	0	1	0	4	98					A	122687921	G	A	122687921	3	1	124	1	0	0	0	0	1	0	0	0	9001	1145	40	1	1949	1	LRRC43	12	122687921	Missense_Mutation	SNP	G	TCGA-DJ-A3US-01A-11D-A22D-08		122687921	11163974	9	2669											
ZIC2	7546	broad.mit.edu	37	chr13	100637890	100637890	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgggggcagcgggacagccgGgggtcacagcggcctctcct	18	14	2	0			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr13:100637890G>T	ENST00000376335.3	+	3	1846	c.1553G>T	c.(1552-1554)gGg>gTg	p.G518V		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	518					brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ggGACAGCCGGGGGTCACAGC	0.771																																					Pancreas(97;119 1522 31925 44771 48764)	ENST00000376335.3																			0				large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1552-1554)gGg>gTg		Zic family member 2							9	11	10					13																	100637890		1680	3665	5345	SO:0001583	missense	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100637890G>T	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"Zinc fingers, C2H2-type"	12873	protein-coding gene	gene with protein product	"Zinc finger protein of the cerebellum 2"	603073	"Zic family member 2 (odd-paired Drosophila homolog)", "Zic family member 2 (odd-paired homolog, Drosophila)"			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.1553G>T	13.37:g.100637890G>T	ENSP00000365514:p.Gly518Val						p.G518V	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN			3	1846	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		518					Q5VYA9|Q9H309	Missense_Mutation	SNP	ENST00000376335.3	37	c.1553G>T	CCDS9495.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.439581	0.43326	.	.	ENSG00000043355	ENST00000376335	D	0.96459	-4.02	3.69	3.69	0.42338	.	0.000000	0.49305	D	0.000157	D	0.94915	0.8356	L	0.34521	1.04	0.54753	D	0.999986	D	0.69078	0.997	P	0.52386	0.697	D	0.95003	0.8145	10	0.54805	T	0.06	.	14.5095	0.67774	0.0:0.0:1.0:0.0	.	518	O95409	ZIC2_HUMAN	V	518	ENSP00000365514:G518V	ENSP00000365514:G518V	G	+	2	0	ZIC2	99435891	0.995000	0.38212	0.977000	0.42913	0.995000	0.86356	-0.229000	0.09098	2.041000	0.60428	0.462000	0.41574	GGG		0.771	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		9	23	1	0	2.17888e-05	1	2.40235e-05	9	23					T	100637890	G	T	100637890	3	4	124	1	0	0	0	0	1	0	0	0	17676	1232	43	4	1563	4	ZIC2	13	100637890	Missense_Mutation	SNP	G	TCGA-DJ-A3US-01A-11D-A22D-08		100637890	14531988	10	2670											
ACOT1	641371	broad.mit.edu	37	chr14	74004392	74004392	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttggagcccgagaaaccCttggtgcggctggtgaagcg	16	11	0	2			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr14:74004392C>T	ENST00000311148.4	+	1	575	c.267C>T	c.(265-267)ccC>ccT	p.P89P	HEATR4_ENST00000560393.1_Intron|HEATR4_ENST00000334988.2_Intron|ACOT1_ENST00000557556.1_Silent_p.P89P|HEATR4_ENST00000553558.1_Intron	NM_001037161.1	NP_001032238.1	Q86TX2	ACOT1_HUMAN	acyl-CoA thioesterase 1	89					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(1)|large_intestine(1)|lung(2)	4				OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)		CCGAGAAACCCTTGGTGCGGC	0.736																																						ENST00000311148.4																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(265-267)ccC>ccT		acyl-CoA thioesterase 1							10	9	9					14																	74004392		1754	3064	4818	SO:0001819	synonymous_variant	641371							g.chr14:74004392C>T	DQ082754	CCDS32117.1	14q24.3	2013-09-20			ENSG00000184227	ENSG00000184227		"Acyl CoA thioesterases"	33128	protein-coding gene	gene with protein product		614313				16103133, 16940157	Standard	NM_001037161		Approved	ACH2, CTE-1, LACH2		Q86TX2	OTTHUMG00000171607	ENST00000311148.4:c.267C>T	14.37:g.74004392C>T						HEATR4_ENST00000560393.1_Intron|HEATR4_ENST00000334988.2_Intron|ACOT1_ENST00000557556.1_Silent_p.P89P|HEATR4_ENST00000553558.1_Intron	p.P89P	NM_001037161.1	NP_001032238.1				OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)	1	575	+								A1L173|Q3I5F9	Silent	SNP	ENST00000311148.4	37	c.267C>T	CCDS32117.1																																																																																				0.736	ACOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414432.1	NM_001037161		3	12	0	0	0	1	0	3	12					T	74004392	C	T	74004392	2	4	124	1	0	0	0	0	0	0	0	1	148	668	24	2		2	ACOT1	14	74004392	Silent	SNP	C	TCGA-DJ-A3US-01A-11D-A22D-08		74004392	33345148	11	2671											
MAP1A	4130	broad.mit.edu	37	chr15	43816894	43816894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcccccaggcccaggaaGcacctgtcaacattgatgag	12	13	1	2			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr15:43816894G>A	ENST00000300231.5	+	4	3673	c.3223G>A	c.(3223-3225)Gca>Aca	p.A1075T	MAP1A_ENST00000399453.1_Missense_Mutation_p.A1075T|MAP1A_ENST00000382031.1_Missense_Mutation_p.A1313T			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1075					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGCCCAGGAAGCACCTGTCAA	0.532																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(3937-3939)Gca>Aca		microtubule-associated protein 1A	Estramustine(DB01196)						66	72	70					15																	43816894		1947	4137	6084	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43816894G>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.3223G>A	15.37:g.43816894G>A	ENSP00000300231:p.Ala1075Thr					MAP1A_ENST00000300231.5_Missense_Mutation_p.A1075T|MAP1A_ENST00000399453.1_Missense_Mutation_p.A1075T	p.A1313T			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	3968	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	1075	KYLPGAITSPD -> EVLTWGDHQALN (in Ref. 4; AAD00355).				O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.3937G>A	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	0.067	-1.209826	0.01555	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01438	4.89;4.89;4.89	5.55	0.124	0.14714	.	1.118830	0.07056	N	0.832946	T	0.01156	0.0038	L	0.32530	0.975	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.50709	-0.8796	10	0.14252	T	0.57	-2.1833	1.1205	0.01724	0.2281:0.1693:0.3816:0.221	.	1075	P78559	MAP1A_HUMAN	T	1313;1075;1075	ENSP00000371462:A1313T;ENSP00000382380:A1075T;ENSP00000300231:A1075T	ENSP00000300231:A1075T	A	+	1	0	MAP1A	41604186	0.000000	0.05858	0.002000	0.10522	0.028000	0.11728	-0.190000	0.09615	0.145000	0.18977	-0.126000	0.14955	GCA		0.532	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		3	120	0	0	0	1	0	3	120					A	43816894	G	A	43816894	3	1	124	1	0	0	0	0	1	0	0	0	9227	971	34	2	3225	2	MAP1A	15	43816894	Missense_Mutation	SNP	G	TCGA-DJ-A3US-01A-11D-A22D-08		43816894	58714498	12	2672											
C15orf42	90381	broad.mit.edu	37	chr15	90129030	90129030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgatcctcactgtgtgccGcaccaaggaggctgaatttc	10	11	1	2			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr15:90129030G>A	ENST00000268138.7	+	4	1373	c.1268G>A	c.(1267-1269)cGc>cAc	p.R423H	RP11-429B14.1_ENST00000559041.1_RNA|TICRR_ENST00000560985.1_Missense_Mutation_p.R422H			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	423					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										ACTGTGTGCCGCACCAAGGAG	0.542																																						ENST00000268138.7																			0											c.(1267-1269)cGc>cAc		TOPBP1-interacting checkpoint and replication regulator							86	88	87					15																	90129030		1978	4151	6129	SO:0001583	missense	90381							g.chr15:90129030G>A	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"TOPBP1-interacting replication-stimulating protein", "SLD3 homolog (S. cerevisiae)"	613298	"chromosome 15 open reading frame 42"	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.1268G>A	15.37:g.90129030G>A	ENSP00000268138:p.Arg423His					RP11-429B14.1_ENST00000559041.1_RNA|TICRR_ENST00000560985.1_Missense_Mutation_p.R422H	p.R423H							4	1373	+								B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	c.1268G>A	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	g	3.132	-0.178303	0.06380	.	.	ENSG00000140534	ENST00000268138	T	0.13901	2.55	5.24	-2.38	0.06622	.	0.846013	0.11198	N	0.589141	T	0.08447	0.0210	L	0.27053	0.805	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.28964	-1.0027	10	0.46703	T	0.11	0.7395	7.3452	0.26660	0.4494:0.1087:0.4419:0.0	.	423	Q7Z2Z1	TICRR_HUMAN	H	423	ENSP00000268138:R423H	ENSP00000268138:R423H	R	+	2	0	C15orf42	87930034	0.000000	0.05858	0.005000	0.12908	0.010000	0.07245	-0.060000	0.11712	-0.695000	0.05105	-0.150000	0.13652	CGC		0.542	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		3	105	0	0	0	1	0	3	105					A	90129030	G	A	90129030	3	1	124	1	0	0	0	0	1	0	0	0	1796	1087	38	1	1282	1	C15orf42	15	90129030	Missense_Mutation	SNP	G	TCGA-DJ-A3US-01A-11D-A22D-08	46312136	90129030	12402362	13	2673											
ABCA3	21	broad.mit.edu	37	chr16	2347809	2347809	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atgccgatggagagcttgcgCctcatgcccccgctcaggaa	12	14	2	1			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr16:2347809C>G	ENST00000301732.5	-	16	2710	c.2010G>C	c.(2008-2010)agG>agC	p.R670S	ABCA3_ENST00000382381.3_Missense_Mutation_p.R612S	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	670	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	AGAGCTTGCGCCTCATGCCCC	0.632																																						ENST00000301732.5																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(2008-2010)agG>agC		ATP-binding cassette, sub-family A (ABC1), member 3							92	83	86					16																	2347809		2198	4300	6498	SO:0001583	missense	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2347809C>G	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.2010G>C	16.37:g.2347809C>G	ENSP00000301732:p.Arg670Ser					ABCA3_ENST00000382381.3_Missense_Mutation_p.R612S	p.R670S	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			16	2710	-		Ovarian(90;0.17)	670			ABC transporter 1.		B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.2010G>C	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.958616	0.53400	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D;T	0.94723	-3.5;-0.88	5.55	4.54	0.55810	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.393893	0.30510	N	0.009465	D	0.93200	0.7834	M	0.71581	2.175	0.80722	D	1	B;P;B	0.36183	0.033;0.542;0.033	B;B;B	0.38225	0.155;0.268;0.063	D	0.92912	0.6348	10	0.87932	D	0	.	11.1369	0.48378	0.0:0.9051:0.0:0.0949	.	670;674;670	A7MBM9;Q4LE27;Q99758	.;.;ABCA3_HUMAN	S	670;674	ENSP00000301732:R670S;ENSP00000371818:R674S	ENSP00000301732:R670S	R	-	3	2	ABCA3	2287810	1.000000	0.71417	0.999000	0.59377	0.498000	0.33706	1.310000	0.33551	2.894000	0.99253	0.655000	0.94253	AGG		0.632	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		3	141	0	0	0	1	0	3	141					G	2347809	C	G	2347809	3	3	124	1	0	0	0	0	1	0	0	0	33	738	26	4	3176	4	ABCA3	16	2347809	Missense_Mutation	SNP	C	TCGA-DJ-A3US-01A-11D-A22D-08		2347809	88006944	14	2674											
C17orf28	283987	broad.mit.edu	37	chr17	72951961	72951961	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggtggtggttctgggcggcaGagaagaggaaccaggtggtg	21	5	1	2			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr17:72951961G>C	ENST00000425042.2	-	13	1639	c.1562C>G	c.(1561-1563)tCt>tGt	p.S521C		NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	521					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)											CTGGGCGGCAGAGAAGAGGAA	0.572																																						ENST00000425042.2																			0											c.(1561-1563)tCt>tGt		HID1 domain containing							148	135	139					17																	72951961		2203	4300	6503	SO:0001583	missense	283987							g.chr17:72951961G>C		CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"downregulated in multiple cancer 1"	605752	"chromosome 17 open reading frame 28"	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.1562C>G	17.37:g.72951961G>C	ENSP00000413520:p.Ser521Cys						p.S521C	NM_030630.2	NP_085133.1					13	1639	-								Q8N5L6|Q8TE83|Q9NT34	Missense_Mutation	SNP	ENST00000425042.2	37	c.1562C>G	CCDS32726.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297567	0.81025	.	.	ENSG00000167861	ENST00000525426;ENST00000425042;ENST00000318565	.	.	.	5.1	5.1	0.69264	.	0.118146	0.64402	D	0.000015	D	0.84991	0.5595	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.88203	0.2885	9	0.87932	D	0	-9.2117	18.4905	0.90844	0.0:0.0:1.0:0.0	.	521	Q8IV36	CQ028_HUMAN	C	293;521;293	.	ENSP00000317795:S293C	S	-	2	0	C17orf28	70463556	1.000000	0.71417	0.918000	0.36340	0.725000	0.41563	7.587000	0.82613	2.349000	0.79799	0.650000	0.86243	TCT		0.572	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390011.2	NM_030630		37	86	0	0	0	1	0	37	86					C	72951961	G	C	72951961	3	2	124	1	0	0	0	0	1	0	0	0	1853	942	33	4	832	4	C17orf28	17	72951961	Missense_Mutation	SNP	G	TCGA-DJ-A3US-01A-11D-A22D-08		72951961	8243249	15	2675											
UPF1	5976	broad.mit.edu	37	chr19	18960960	18960960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgggcccctgggggagacaGtcctggagtgctacaactgc	15	12	0	1			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr19:18960960G>A	ENST00000599848.1	+	4	747	c.538G>A	c.(538-540)Gtc>Atc	p.V180I	UPF1_ENST00000262803.5_Missense_Mutation_p.V180I|UPF1_ENST00000600310.1_3'UTR			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	180	Sufficient for interaction with RENT2.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GGGGGAGACAGTCCTGGAGTG	0.562																																						ENST00000262803.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(538-540)Gtc>Atc		UPF1 regulator of nonsense transcripts homolog (yeast)							105	100	101					19																	18960960		2203	4300	6503	SO:0001583	missense	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr19:18960960G>A	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"UP Frameshift 1", "smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"	601430	"regulator of nonsense transcripts 1"	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.538G>A	19.37:g.18960960G>A	ENSP00000470142:p.Val180Ile					UPF1_ENST00000600310.1_3'UTR|UPF1_ENST00000599848.1_Missense_Mutation_p.V180I	p.V180I	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN			4	810	+			180			Sufficient for interaction with RENT2.		O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37	c.538G>A		.	.	.	.	.	.	.	.	.	.	G	12.22	1.872541	0.33069	.	.	ENSG00000005007	ENST00000262803	D	0.89617	-2.54	4.45	3.37	0.38596	RNA helicase UPF1, UPF2-interacting domain (1);	0.000000	0.85682	D	0.000000	T	0.80874	0.4707	L	0.28649	0.875	0.58432	D	0.999997	B;B	0.12013	0.005;0.002	B;B	0.13407	0.009;0.005	T	0.71915	-0.4448	10	0.13853	T	0.58	-42.3634	12.7278	0.57180	0.0:0.0:0.8339:0.1661	.	180;180	Q92900;Q92900-2	RENT1_HUMAN;.	I	180	ENSP00000262803:V180I	ENSP00000262803:V180I	V	+	1	0	UPF1	18821960	1.000000	0.71417	0.068000	0.19968	0.993000	0.82548	9.429000	0.97481	0.932000	0.37266	0.591000	0.81541	GTC		0.562	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		3	126	0	0	0	1	0	3	126					A	18960960	G	A	18960960	3	1	124	1	0	0	0	0	1	0	0	0	17000	1029	36	2	552	2	UPF1	19	18960960	Missense_Mutation	SNP	G	TCGA-DJ-A3US-01A-11D-A22D-08		18960960	40168023	16	2676											
TGM6	343641	broad.mit.edu	37	chr20	2380227	2380227	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgaacagcaacaacgaccgAggtgtggtgcaaggacagtg	15	8	0	1			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr20:2380227A>T	ENST00000202625.2	+	6	754	c.693A>T	c.(691-693)cgA>cgT	p.R231R	TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Silent_p.R231R	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	231					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	ACAACGACCGAGGTGTGGTGC	0.632																																						ENST00000202625.2																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52						c.(691-693)cgA>cgT		transglutaminase 6	L-Glutamine(DB00130)						102	84	90					20																	2380227		2203	4300	6503	SO:0001819	synonymous_variant	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2380227A>T	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"Transglutaminases"	16255	protein-coding gene	gene with protein product	"spinocerebellar ataxia 35"	613900	"transglutaminase 3-like"	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.693A>T	20.37:g.2380227A>T						TGM6_ENST00000381423.1_Silent_p.R231R|TGM6_ENST00000477505.1_3'UTR	p.R231R	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN			6	754	+			231					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Silent	SNP	ENST00000202625.2	37	c.693A>T	CCDS13025.1																																																																																				0.632	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		33	115	0	0	0	1	0	33	115					T	2380227	A	T	2380227	2	4	124	1	0	0	0	0	0	0	0	1	15831	291	11	5		5	TGM6	20	2380227	Silent	SNP	A	TCGA-DJ-A3US-01A-11D-A22D-08		2380227	60645293	17	2677											
KRTAP6-2	337967	broad.mit.edu	37	chr21	31971024	31971024	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcaatagtagtagccagagCcgcatccatagccacagcca	8	14	1	1			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr21:31971024C>G	ENST00000334897.3	-	1	195	c.170G>C	c.(169-171)gGc>gCc	p.G57A	KRTAP22-1_ENST00000334680.2_5'Flank	NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2	57						intermediate filament (GO:0005882)				endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						GTAGCCAGAGCCGCATCCATA	0.567																																						ENST00000334897.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						c.(169-171)gGc>gCc		keratin associated protein 6-2							61	56	58					21																	31971024		2203	4300	6503	SO:0001583	missense	337967					intermediate filament		g.chr21:31971024C>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.170G>C	21.37:g.31971024C>G	ENSP00000334560:p.Gly57Ala						p.G57A	NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN			1	195	-			57						Missense_Mutation	SNP	ENST00000334897.3	37	c.170G>C	CCDS13600.1	.	.	.	.	.	.	.	.	.	.	C	4.847	0.157424	0.09236	.	.	ENSG00000186930	ENST00000334897	T	0.20200	2.09	4.36	4.36	0.52297	.	0.242264	0.22073	U	0.065019	T	0.43277	0.1240	.	.	.	0.21184	N	0.999764	D	0.76494	0.999	D	0.91635	0.999	T	0.14559	-1.0468	9	0.87932	D	0	.	12.7069	0.57065	0.0:1.0:0.0:0.0	.	57	Q3LI66	KRA62_HUMAN	A	57	ENSP00000334560:G57A	ENSP00000334560:G57A	G	-	2	0	KRTAP6-2	30892895	0.051000	0.20477	0.450000	0.26969	0.079000	0.17450	0.948000	0.29096	2.716000	0.92895	0.650000	0.86243	GGC		0.567	KRTAP6-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128246.3			16	43	0	0	0	1	0	16	43					G	31971024	C	G	31971024	3	3	124	1	0	0	0	0	1	0	0	0	8570	739	26	4	21	4	KRTAP6-2	21	31971024	Missense_Mutation	SNP	C	TCGA-DJ-A3US-01A-11D-A22D-08		31971024	16158871	18	2678											
TOP3B	8940	broad.mit.edu	37	chr22	22318659	22318659	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcgtgtagagccgctcagcCgtctgcatggcgtgctgcgg	16	12	2	1			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr22:22318659C>A	ENST00000398793.2	-	10	1406	c.972G>T	c.(970-972)acG>acT	p.T324T	TOP3B_ENST00000357179.5_Silent_p.T324T|TOP3B_ENST00000413067.2_Silent_p.T53T	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	324					chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		GCCGCTCAGCCGTCTGCATGG	0.637																																						ENST00000398793.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26						c.(970-972)acG>acT		topoisomerase (DNA) III beta							141	108	119					22																	22318659		2203	4300	6503	SO:0001819	synonymous_variant	8940				DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding	g.chr22:22318659C>A	AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.972G>T	22.37:g.22318659C>A						TOP3B_ENST00000357179.5_Silent_p.T324T|TOP3B_ENST00000413067.2_Silent_p.T53T	p.T324T	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	10	1406	-	Colorectal(54;0.105)		324					A0M8Q3|Q9BUP5	Silent	SNP	ENST00000398793.2	37	c.972G>T	CCDS13797.1	.	.	.	.	.	.	.	.	.	.	C	8.017	0.758885	0.15846	.	.	ENSG00000100038	ENST00000457270	.	.	.	5.05	-10.1	0.00402	.	.	.	.	.	T	0.31420	0.0796	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39623	-0.9605	4	.	.	.	.	1.1052	0.01692	0.1919:0.2783:0.1729:0.3569	.	.	.	.	L	119	.	.	R	-	2	0	TOP3B	20648659	0.032000	0.19561	0.013000	0.15412	0.870000	0.49936	-0.904000	0.04080	-2.506000	0.00507	-1.069000	0.02264	CGG		0.637	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320251.1	NM_003935		3	110	1	0	0.00909568	1	0.00953937	3	110					A	22318659	C	A	22318659	2	1	124	1	0	0	0	0	0	0	0	1	16365	639	23	4		4	TOP3B	22	22318659	Silent	SNP	C	TCGA-DJ-A3US-01A-11D-A22D-08		22318659	28985907	19	2679											
PHEX	5251	broad.mit.edu	37	chrX	22108574	22108574	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcaacactctccctggccGtgagggaagactaccttgat	10	12	1	3	rs376291775		TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chrX:22108574G>A	ENST00000379374.4	+	6	1256	c.691G>A	c.(691-693)Gtg>Atg	p.V231M	PHEX_ENST00000535894.1_Missense_Mutation_p.V134M|PHEX_ENST00000537599.1_Missense_Mutation_p.V231M	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	231					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						CTCCCTGGCCGTGAGGGAAGA	0.428													G|||	1	0.000264901	8e-04	0	3775	,	,		14999	0		0	False		,,,				2504	0					ENST00000379374.4																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						c.(691-693)Gtg>Atg		phosphate regulating endopeptidase homolog, X-linked		G	MET/VAL	1,3834		0,1,1631,571	136	101	113		691	5.8	1.0	X		113	0,6728		0,0,2428,1872	no	missense	PHEX	NM_000444.4	21	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	probably-damaging	231/750	22108574	1,10562	2203	4300	6503	SO:0001583	missense	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22108574G>A	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.691G>A	X.37:g.22108574G>A	ENSP00000368682:p.Val231Met					PHEX_ENST00000537599.1_Missense_Mutation_p.V231M|PHEX_ENST00000535894.1_Missense_Mutation_p.V134M	p.V231M	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN			6	1256	+			231					O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	ENST00000379374.4	37	c.691G>A	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.803306	0.50315	2.61E-4	0.0	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894	D;D;D	0.81908	-1.55;-1.55;-1.55	5.78	5.78	0.91487	Peptidase M13 (1);	0.108534	0.64402	D	0.000007	T	0.76485	0.3994	N	0.08118	0	0.80722	D	1	D;D	0.63046	0.989;0.992	B;P	0.52598	0.36;0.703	T	0.81455	-0.0925	10	0.87932	D	0	.	12.8891	0.58061	0.0:0.0:0.7223:0.2777	.	231;231	F5GXU4;P78562	.;PHEX_HUMAN	M	231;231;134	ENSP00000368682:V231M;ENSP00000440362:V231M;ENSP00000439418:V134M	ENSP00000368682:V231M	V	+	1	0	PHEX	22018495	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	4.089000	0.57685	2.429000	0.82318	0.513000	0.50165	GTG		0.428	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444		3	107	0	0	0	1	0	3	107					A	22108574	G	A	22108574	3	1	124	1	0	0	0	0	1	0	0	0	11819	1145	40	1	713	1	PHEX	23	22108574	Missense_Mutation	SNP	G	TCGA-DJ-A3US-01A-11D-A22D-08		22108574	133161986	20	2680											
ARMCX3	51566	broad.mit.edu	37	chrX	100880152	100880154	+	In_Frame_Del	DEL	TGA	TGA	-													gccaggtataatgactggtcTgatgatgatgatgacagcaa							TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chrX:100880152_100880154delTGA	ENST00000341189.4	+	5	1049_1051	c.183_185delTGA	c.(181-186)tctgat>tct	p.D66del	RP4-545K15.5_ENST00000564612.1_RNA|ARMCX3_ENST00000471229.2_In_Frame_Del_p.D66del|ARMCX3_ENST00000537169.1_In_Frame_Del_p.D66del|ARMCX3-AS1_ENST00000454228.1_RNA	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	66					cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						ATGACTGGTCTGATGATGATGAT	0.517																																						ENST00000341189.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(181-186)tct>tc		armadillo repeat containing, X-linked 3																																				SO:0001651	inframe_deletion	51566					integral to membrane	binding	g.chrX:100880152_100880154delTGA	AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"Armadillo repeat containing"	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.183_185delTGA	X.37:g.100880161_100880163delTGA	ENSP00000340672:p.Asp66del					ARMCX3_ENST00000537169.1_In_Frame_Del_p.SD61del|ARMCX3_ENST00000471229.2_In_Frame_Del_p.SD61del	p.SD61del	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN			5	1049_1051	+			61					Q53HC6|Q7LCF5|Q9NPE4	In_Frame_Del	DEL	ENST00000341189.4	37	c.183_185delTGA	CCDS14489.1																																																																																				0.517	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057568.2	NM_016607		7	371						7	371	---	---	---	---	-	100880154	TGA	-	100880152	7	5	124	1	0	1	0	1	0	0	0	0	961	1567	55	0	185	0	ARMCX3	23	100880152	In_Frame_Del	DEL	TGA	TCGA-DJ-A3US-01A-11D-A22D-08	78771578	100880152	54390408	21	2681											
MAGEA3	4102	broad.mit.edu	37	chrX	151935879	151935879	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactccaggtcagggaaggtGcttggcccctcctcttcttg	12	13	3	0			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chrX:151935879G>T	ENST00000393902.3	-	3	855	c.288C>A	c.(286-288)agC>agA	p.S96R	MAGEA3_ENST00000370278.3_Missense_Mutation_p.S96R			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	96										endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGGAAGGTGCTTGGCCCCT	0.577																																						ENST00000393902.3																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15						c.(286-288)agC>agA		melanoma antigen family A, 3							108	98	102					X																	151935879		2203	4290	6493	SO:0001583	missense	4102							g.chrX:151935879G>T		CCDS76045.1	Xq28	2009-03-13			ENSG00000221867	ENSG00000221867			6801	protein-coding gene	gene with protein product	"melanoma-associated antigen 3", "antigen MZ2-D", "MAGE-3 antigen", "cancer/testis antigen family 1, member 3"	300174		MAGE3		1840703, 8575766	Standard	NM_005362		Approved	HYPD, HIP8, MGC14613, CT1.3	uc004fgp.3	P43357	OTTHUMG00000022640	ENST00000393902.3:c.288C>A	X.37:g.151935879G>T	ENSP00000377480:p.Ser96Arg					MAGEA3_ENST00000370278.3_Missense_Mutation_p.S96R	p.S96R			P43357	MAGA3_HUMAN			3	855	-	Acute lymphoblastic leukemia(192;6.56e-05)		96					Q6FHI6	Missense_Mutation	SNP	ENST00000393902.3	37	c.288C>A	CCDS14715.1	.	.	.	.	.	.	.	.	.	.	g	3.601	-0.081475	0.07141	.	.	ENSG00000221867	ENST00000370278;ENST00000393902;ENST00000417212	T;T;T	0.06371	3.31;3.31;3.31	0.743	-0.266	0.12942	Melanoma associated antigen, MAGE, N-terminal (1);	1.143810	0.06455	N	0.728450	T	0.08537	0.0212	M	0.63428	1.95	0.09310	N	1	B	0.14805	0.011	B	0.23716	0.048	T	0.43130	-0.9410	9	0.38643	T	0.18	.	.	.	.	.	96	P43357	MAGA3_HUMAN	R	96	ENSP00000359301:S96R;ENSP00000377480:S96R;ENSP00000392758:S96R	ENSP00000359301:S96R	S	-	3	2	MAGEA3	151686535	0.001000	0.12720	0.006000	0.13384	0.034000	0.12701	0.418000	0.21230	-0.176000	0.10707	0.358000	0.22013	AGC		0.577	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058744.1	NM_005362		5	148	1	0	0.184627	1	0.184627	5	148					T	151935879	G	T	151935879	3	4	124	1	0	0	0	0	1	0	0	0	9167	1310	46	4	660	4	MAGEA3	23	151935879	Missense_Mutation	SNP	G	TCGA-DJ-A3US-01A-11D-A22D-08	51055727	151935879	3334681	22	2682											
PLEKHM2	23207	broad.mit.edu	37	chr1	16057150	16057150	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccatcaccaaagaaggcatgCtgcactacaaggcgggcacc	10	14	1	1	rs370220957		TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr1:16057150C>G	ENST00000375799.3	+	15	2559	c.2332C>G	c.(2332-2334)Ctg>Gtg	p.L778V	PLEKHM2_ENST00000375793.2_Missense_Mutation_p.L758V|RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000477849.1_3'UTR	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	778	Interaction with sifA.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AGAAGGCATGCTGCACTACAA	0.652																																						ENST00000375799.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(2332-2334)Ctg>Gtg		pleckstrin homology domain containing, family M (with RUN domain) member 2							57	64	62					1																	16057150		2108	4226	6334	SO:0001583	missense	23207				Golgi organization	cytoplasm	kinesin binding	g.chr1:16057150C>G	AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"Pleckstrin homology (PH) domain containing"	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.2332C>G	1.37:g.16057150C>G	ENSP00000364956:p.Leu778Val					RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Missense_Mutation_p.L758V|PLEKHM2_ENST00000477849.1_3'UTR	p.L778V	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	15	2559	+		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	778			Interaction with sifA.|PH.		O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Missense_Mutation	SNP	ENST00000375799.3	37	c.2332C>G	CCDS44063.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337621	0.81911	.	.	ENSG00000116786	ENST00000375799;ENST00000375793	D;D	0.82255	-1.59;-1.59	5.31	4.39	0.52855	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	D	0.000001	D	0.88858	0.6551	M	0.65498	2.005	0.58432	D	0.999999	D	0.71674	0.998	D	0.83275	0.996	D	0.89093	0.3484	10	0.87932	D	0	-12.7286	10.5067	0.44839	0.0:0.8501:0.0:0.1499	.	778	Q8IWE5	PKHM2_HUMAN	V	778;758	ENSP00000364956:L778V;ENSP00000364950:L758V	ENSP00000364950:L758V	L	+	1	2	PLEKHM2	15929737	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.392000	0.59659	1.228000	0.43614	0.655000	0.94253	CTG		0.652	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008463.1	NM_015164		8	15	0	0	0	0.010729	0	8	15					G	16057150	C	G	16057150	3	3	125	1	0	0	0	0	1	0	0	0	12081	796	28	4	2390	4	PLEKHM2	1	16057150	Missense_Mutation	SNP	C	TCGA-DJ-A3UT-01A-11D-A22D-08		16057150	233193471	1	2683											
PLA2G5	5322	broad.mit.edu	37	chr1	20412680	20412680	+	Missense_Mutation	SNP	G	G	C													gcttctacggctgttactgcGgctggggcggccgaggaacc					rs387906796		TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr1:20412680G>C	ENST00000375108.3	+	3	413	c.145G>C	c.(145-147)Ggc>Cgc	p.G49R	PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V	49			G -> S (in FRFB). {ECO:0000269|PubMed:22137173}.		arachidonic acid secretion (GO:0050482)|glycerophospholipid biosynthetic process (GO:0046474)|leukotriene biosynthetic process (GO:0019370)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|heparin binding (GO:0008201)	p.G49S(1)		NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		CTGTTACTGCGGCTGGGGCGG	0.552																																						ENST00000375108.3																			1	Substitution - Missense(1)	p.G49S(1)	lung(1)	NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(145-147)Ggc>Cgc		phospholipase A2, group V							84	78	80					1																	20412680		2203	4300	6503	SO:0001583	missense	5322				lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity	g.chr1:20412680G>C	U03090	CCDS202.1	1p36-p34	2008-09-19			ENSG00000127472	ENSG00000127472	3.1.1.4		9038	protein-coding gene	gene with protein product		601192				8838795, 8300559	Standard	NM_000929		Approved		uc001bcy.3	P39877	OTTHUMG00000002698	ENST00000375108.3:c.145G>C	1.37:g.20412680G>C	ENSP00000364249:p.Gly49Arg					PLA2G5_ENST00000486277.1_3'UTR	p.G49R	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)	3	413	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)	49					Q8N435	Missense_Mutation	SNP	ENST00000375108.3	37	c.145G>C	CCDS202.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.060263	0.76074	.	.	ENSG00000127472	ENST00000375108	D	0.94537	-3.45	5.26	5.26	0.73747	Phospholipase A2 (3);	0.000000	0.64402	D	0.000015	D	0.97945	0.9324	H	0.94964	3.605	0.46356	D	0.999002	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98735	1.0714	10	0.87932	D	0	-31.3248	14.7313	0.69383	0.0:0.0:1.0:0.0	.	49;22	P39877;B3KUQ4	PA2G5_HUMAN;.	R	49	ENSP00000364249:G49R	ENSP00000364249:G49R	G	+	1	0	PLA2G5	20285267	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	5.239000	0.65371	2.620000	0.88729	0.655000	0.94253	GGC		0.552	PLA2G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007668.1	NM_000929		6	84	0	0	0	0.021553	0	6	84					C	20412680	G	C	20412680	3	2	125	1	0	0	0	0	1	0	0	0	12007	1116	39	4	151	4	PLA2G5	1	20412680	Missense_Mutation	SNP	G	TCGA-DJ-A3UT-01A-11D-A22D-08	4355530	20412680	228837941	2	2684	15	2									
PLA2G5	5322	broad.mit.edu	37	chr1	20412681	20412681	+	Missense_Mutation	SNP	G	G	T													cttctacggctgttactgcgGctggggcggccgaggaaccc							TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr1:20412681G>T	ENST00000375108.3	+	3	414	c.146G>T	c.(145-147)gGc>gTc	p.G49V	PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V	49			G -> S (in FRFB). {ECO:0000269|PubMed:22137173}.		arachidonic acid secretion (GO:0050482)|glycerophospholipid biosynthetic process (GO:0046474)|leukotriene biosynthetic process (GO:0019370)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|heparin binding (GO:0008201)			NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		TGTTACTGCGGCTGGGGCGGC	0.552																																						ENST00000375108.3																			0				NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(145-147)gGc>gTc		phospholipase A2, group V							84	78	80					1																	20412681		2203	4300	6503	SO:0001583	missense	5322				lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity	g.chr1:20412681G>T	U03090	CCDS202.1	1p36-p34	2008-09-19			ENSG00000127472	ENSG00000127472	3.1.1.4		9038	protein-coding gene	gene with protein product		601192				8838795, 8300559	Standard	NM_000929		Approved		uc001bcy.3	P39877	OTTHUMG00000002698	ENST00000375108.3:c.146G>T	1.37:g.20412681G>T	ENSP00000364249:p.Gly49Val					PLA2G5_ENST00000486277.1_3'UTR	p.G49V	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)	3	414	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)	49					Q8N435	Missense_Mutation	SNP	ENST00000375108.3	37	c.146G>T	CCDS202.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916325	0.73098	.	.	ENSG00000127472	ENST00000375108	D	0.94687	-3.49	5.26	5.26	0.73747	Phospholipase A2 (3);	0.000000	0.64402	D	0.000015	D	0.98327	0.9445	H	0.98133	4.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99208	1.0875	10	0.87932	D	0	-31.3248	14.7313	0.69383	0.0:0.0:1.0:0.0	.	49;22	P39877;B3KUQ4	PA2G5_HUMAN;.	V	49	ENSP00000364249:G49V	ENSP00000364249:G49V	G	+	2	0	PLA2G5	20285268	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	3.670000	0.54569	2.620000	0.88729	0.655000	0.94253	GGC		0.552	PLA2G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007668.1	NM_000929		7	83	1	0	0.00198382	0.001984	0.0035387	7	83					T	20412681	G	T	20412681	3	4	125	1	0	0	0	0	1	0	0	0	12007	1203	42	4	152	4	PLA2G5	1	20412681	Missense_Mutation	SNP	G	TCGA-DJ-A3UT-01A-11D-A22D-08	1	20412681	228837940	3	2685	15	2									
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290	byFrequency	TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		neuroblastoma RAS viral (v-ras) oncogene homolog							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		96	133	0	0	0	0.01441	0	96	133					C	115256529	T	C	115256529	3	2	125	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-DJ-A3UT-01A-11D-A22D-08	94843848	115256529	133994092	4	2686											
LASS2	29956	broad.mit.edu	37	chr1	150940318	150940318	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacaatgacggccatgccgGcaatgaaggcaatcaggtaa	11	11	1	2			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr1:150940318G>A	ENST00000271688.6	-	5	832	c.446C>T	c.(445-447)gCc>gTc	p.A149V	CERS2_ENST00000345896.4_5'UTR|RP11-316M1.12_ENST00000561111.1_RNA|CERS2_ENST00000368954.5_Missense_Mutation_p.A149V|RP11-316M1.12_ENST00000560481.1_RNA|CERS2_ENST00000561294.1_Missense_Mutation_p.A140V	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	149	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										GGCCATGCCGGCAATGAAGGC	0.542																																						ENST00000271688.6																			0											c.(445-447)gCc>gTc		ceramide synthase 2							151	132	139					1																	150940318		2203	4300	6503	SO:0001583	missense	29956					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr1:150940318G>A	AF189062	CCDS973.1	1q21.3	2012-09-20	2011-07-08	2011-07-08	ENSG00000143418	ENSG00000143418		"Homeoboxes / CERS class"	14076	protein-coding gene	gene with protein product		606920	"longevity assurance (LAG1, S. cerevisiae) homolog 2", "LAG1 longevity assurance homolog 2 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 2"	LASS2		11543633	Standard	NM_181746		Approved	SP260, FLJ10243	uc001evz.3	Q96G23	OTTHUMG00000035064	ENST00000271688.6:c.446C>T	1.37:g.150940318G>A	ENSP00000271688:p.Ala149Val					CERS2_ENST00000368954.5_Missense_Mutation_p.A149V|CERS2_ENST00000345896.4_5'UTR|CERS2_ENST00000561294.1_Missense_Mutation_p.A140V	p.A149V	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN			5	832	-			149			TLC.		D3DV06|Q5SZE5|Q9HD96|Q9NW79	Missense_Mutation	SNP	ENST00000271688.6	37	c.446C>T	CCDS973.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.087830	0.55968	.	.	ENSG00000143418	ENST00000368954;ENST00000271688;ENST00000368949;ENST00000361419;ENST00000421609	D;D;D;D;T	0.85773	-2.03;-2.03;-2.03;-2.03;2.31	4.89	4.89	0.63831	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.85682	D	0.000000	T	0.78285	0.4259	M	0.66378	2.025	0.80722	D	1	B	0.26635	0.155	B	0.29663	0.105	T	0.75786	-0.3195	10	0.20046	T	0.44	-12.1187	17.8497	0.88742	0.0:0.0:1.0:0.0	.	149	Q96G23	CERS2_HUMAN	V	149;149;169;149;149	ENSP00000357950:A149V;ENSP00000271688:A149V;ENSP00000357945:A169V;ENSP00000355020:A149V;ENSP00000393239:A149V	ENSP00000271688:A149V	A	-	2	0	CERS2	149206942	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	5.074000	0.64401	2.536000	0.85505	0.655000	0.94253	GCC		0.542	CERS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084897.2	NM_022075		4	162	0	0	0	0.021553	0	4	162					A	150940318	G	A	150940318	3	1	125	1	0	0	0	0	1	0	0	0	8639	1203	42	2	724	2	LASS2	1	150940318	Missense_Mutation	SNP	G	TCGA-DJ-A3UT-01A-11D-A22D-08	35683789	150940318	98310303	5	2687											
RPTN	126638	broad.mit.edu	37	chr1	152128385	152128388	+	Frame_Shift_Del	DEL	TGTC	TGTC	-													catagtgagaactttggtctTgtctgtctgtctgaccatag							TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr1:152128385_152128388delTGTC	ENST00000316073.3	-	3	1251_1254	c.1187_1190delGACA	c.(1186-1191)agacaafs	p.RQ396fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	396	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTTTGGTCTTGTCTGTCTGTCTG	0.505																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1186-1191)aafs		repetin																																				SO:0001589	frameshift_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128385_152128388delTGTC	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1187_1190delGACA	1.37:g.152128393_152128396delTGTC	ENSP00000317895:p.Arg396fs						p.RQ396fs	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1251_1254	-			396			Gln-rich.		B7ZBZ3	Frame_Shift_Del	DEL	ENST00000316073.3	37	c.1187_1190delGACA	CCDS41397.1																																																																																				0.505	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		7	964						7	964	---	---	---	---	-	152128388	TGTC	-	152128385	7	5	125	1	0	1	0	1	0	0	0	0	13664	1812	63	0	1168	0	RPTN	1	152128385	Frame_Shift_Del	DEL	TGTC	TCGA-DJ-A3UT-01A-11D-A22D-08	1188067	152128385	97122236	6	2688											
HRNR	388697	broad.mit.edu	37	chr1	152190916	152190916	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagctagatccatgttgaccGtagccagaggactgtcctga	12	10	0	4	rs141737935	byFrequency	TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr1:152190916G>T	ENST00000368801.2	-	3	3264	c.3189C>A	c.(3187-3189)taC>taA	p.Y1063*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1063					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGTTGACCGTAGCCAGAGG	0.562																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(3187-3189)taC>taA		hornerin							151	172	165					1																	152190916		2203	4297	6500	SO:0001587	stop_gained	388697				keratinization		calcium ion binding|protein binding	g.chr1:152190916G>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.3189C>A	1.37:g.152190916G>T	ENSP00000357791:p.Tyr1063*					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.Y1063*	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3264	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1063					Q5DT20|Q5U1F4	Nonsense_Mutation	SNP	ENST00000368801.2	37	c.3189C>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	g	36	5.733236	0.96856	.	.	ENSG00000197915	ENST00000368801	.	.	.	3.96	-7.91	0.01165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.5341	0.07788	0.2222:0.2249:0.4417:0.1111	.	.	.	.	X	1063	.	ENSP00000357791:Y1063X	Y	-	3	2	HRNR	150457540	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.026000	0.13599	-2.446000	0.00546	-1.206000	0.01644	TAC		0.562	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		17	411	1	0	2.27525e-19	0.021523	4.29048e-19	17	411					T	152190916	G	T	152190916	4	4	125	1	0	0	0	0	0	1	0	0	7359	1140	40	4	5367	4	HRNR	1	152190916	Nonsense_Mutation	SNP	G	TCGA-DJ-A3UT-01A-11D-A22D-08	62531	152190916	97059705	7	2689											
RAPH1	65059	broad.mit.edu	37	chr2	204322299	204322299	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgccatctcagctgtttctTttttccccaaaagataattc	4	12	2	1			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr2:204322299T>C	ENST00000319170.5	-	8	1411	c.1112A>G	c.(1111-1113)aAa>aGa	p.K371R	RAPH1_ENST00000453034.1_Missense_Mutation_p.K423R|RAPH1_ENST00000374488.2_Missense_Mutation_p.K396R|RAPH1_ENST00000439222.1_Missense_Mutation_p.K396R|RAPH1_ENST00000308091.4_Missense_Mutation_p.K423R|RAPH1_ENST00000418114.1_Missense_Mutation_p.K371R|RAPH1_ENST00000423104.1_Missense_Mutation_p.K398R|RAPH1_ENST00000419464.1_Missense_Mutation_p.K371R|RAPH1_ENST00000374489.2_Missense_Mutation_p.K398R|RAPH1_ENST00000374493.3_Missense_Mutation_p.K423R|RAPH1_ENST00000457812.1_Missense_Mutation_p.K371R	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	371					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGCTGTTTCTTTTTTCCCCAA	0.373																																						ENST00000319170.5																			0				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1111-1113)aAa>aGa		Ras association (RalGDS/AF-6) and pleckstrin homology domains 1							157	168	164					2																	204322299		2203	4300	6503	SO:0001583	missense	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204322299T>C	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"Pleckstrin homology (PH) domain containing"	14436	protein-coding gene	gene with protein product	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"	609035	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.1112A>G	2.37:g.204322299T>C	ENSP00000316543:p.Lys371Arg					RAPH1_ENST00000453034.1_Missense_Mutation_p.K423R|RAPH1_ENST00000439222.1_Missense_Mutation_p.K396R|RAPH1_ENST00000457812.1_Missense_Mutation_p.K371R|RAPH1_ENST00000374488.2_Missense_Mutation_p.K396R|RAPH1_ENST00000374489.2_Missense_Mutation_p.K398R|RAPH1_ENST00000419464.1_Missense_Mutation_p.K371R|RAPH1_ENST00000423104.1_Missense_Mutation_p.K398R|RAPH1_ENST00000418114.1_Missense_Mutation_p.K371R|RAPH1_ENST00000374493.3_Missense_Mutation_p.K423R|RAPH1_ENST00000308091.4_Missense_Mutation_p.K423R	p.K371R	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN			8	1411	-			371					Q96Q37|Q9C0I2	Missense_Mutation	SNP	ENST00000319170.5	37	c.1112A>G	CCDS2359.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.543609	0.65198	.	.	ENSG00000173166	ENST00000457812;ENST00000319170;ENST00000374493;ENST00000374489;ENST00000374488;ENST00000308091;ENST00000439222;ENST00000419464;ENST00000423104;ENST00000453034;ENST00000432342;ENST00000418114;ENST00000413201	T;T;T;T;T;T;T;T;T;T;T	0.51325	0.81;0.72;0.71;0.8;0.79;0.79;0.79;0.81;0.8;0.78;0.8	5.27	5.27	0.74061	.	0.000000	0.47852	D	0.000206	T	0.58779	0.2146	L	0.45581	1.43	0.53005	D	0.999962	D;B;B	0.76494	0.999;0.001;0.071	D;B;B	0.71184	0.972;0.003;0.019	T	0.61618	-0.7026	10	0.72032	D	0.01	-17.4157	10.1509	0.42794	0.0:0.0791:0.0:0.9209	.	423;423;371	Q70E73-6;C9K0J5;Q70E73	.;.;RAPH1_HUMAN	R	371;371;423;398;396;423;396;371;398;423;396;371;398	ENSP00000392854:K371R;ENSP00000316543:K371R;ENSP00000363617:K423R;ENSP00000363613:K398R;ENSP00000363612:K396R;ENSP00000311293:K423R;ENSP00000411138:K396R;ENSP00000390578:K371R;ENSP00000397751:K398R;ENSP00000406662:K423R;ENSP00000396711:K371R	ENSP00000311293:K423R	K	-	2	0	RAPH1	204030544	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.966000	0.63715	1.990000	0.58119	0.454000	0.30748	AAA		0.373	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		3	132	0	0	0	0.004672	0	3	132					C	204322299	T	C	204322299	3	2	125	1	0	0	0	0	1	0	0	0	13050	1841	64	3	2675	3	RAPH1	2	204322299	Missense_Mutation	SNP	T	TCGA-DJ-A3UT-01A-11D-A22D-08		204322299	38877074	8	2690											
VGLL4	9686	broad.mit.edu	37	chr3	11684953	11684953	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attgttgttcatcttgtccaAgtactgatagttcaacaggt	8	7	3	1			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr3:11684953A>C	ENST00000430365.2	-	1	445	c.40T>G	c.(40-42)Ttg>Gtg	p.L14V	VGLL4_ENST00000273038.3_Intron|VGLL4_ENST00000404339.1_Intron	NM_001128219.1	NP_001121691.1	Q14135	VGLL4_HUMAN	vestigial-like family member 4	0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		ATCTTGTCCAAGTACTGATAG	0.438																																						ENST00000430365.2																			0				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(40-42)Ttg>Gtg		vestigial like 4 (Drosophila)							201	193	195					3																	11684953		1568	3582	5150	SO:0001583	missense	9686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:11684953A>C	D50911	CCDS2606.1, CCDS46754.1, CCDS46755.1, CCDS46756.1, CCDS68342.1, CCDS68343.1	3p25.2	2014-03-03	2014-03-03		ENSG00000144560	ENSG00000144560			28966	protein-coding gene	gene with protein product			"vestigial like 4 (Drosophila)"			8590280, 15140898	Standard	NM_001284390		Approved	KIAA0121	uc010hdx.1	Q14135	OTTHUMG00000129739	ENST00000430365.2:c.40T>G	3.37:g.11684953A>C	ENSP00000404251:p.Leu14Val					VGLL4_ENST00000273038.3_Intron|VGLL4_ENST00000404339.1_Intron	p.L14V	NM_001128219.1	NP_001121691.1	Q14135	VGLL4_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)	1	445	-			0					B4DTS7|J3KN68|Q7L5V0|Q9BQ78	Missense_Mutation	SNP	ENST00000430365.2	37	c.40T>G	CCDS46754.1	.	.	.	.	.	.	.	.	.	.	A	19.41	3.821875	0.71028	.	.	ENSG00000144560	ENST00000430365	T	0.58506	0.33	5.63	0.573	0.17363	.	.	.	.	.	T	0.70535	0.3235	M	0.73598	2.24	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.67711	-0.5600	9	0.66056	D	0.02	-0.1671	8.311	0.32071	0.6837:0.0:0.3163:0.0	.	14	G5E9M7	.	V	14	ENSP00000404251:L14V	ENSP00000404251:L14V	L	-	1	2	VGLL4	11659953	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	2.280000	0.43443	-0.121000	0.11787	-0.290000	0.09829	TTG		0.438	VGLL4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339133.1	NM_014667		35	199	0	0	0	0.009718	0	35	199					C	11684953	A	C	11684953	3	2	125	1	0	0	0	0	1	0	0	0	17158	69	3	5	894	5	VGLL4	3	11684953	Missense_Mutation	SNP	A	TCGA-DJ-A3UT-01A-11D-A22D-08		11684953	186337477	9	2691											
GRIA2	2891	broad.mit.edu	37	chr4	158142928	158142928	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccccacatcgacaatttggaGgtggcaaacagcttcgcagt	10	12	0	0			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr4:158142928G>C	ENST00000264426.9	+	2	477	c.198G>C	c.(196-198)gaG>gaC	p.E66D	GRIA2_ENST00000449365.1_Missense_Mutation_p.E19D|GRIA2_ENST00000504801.1_Intron|GRIA2_ENST00000296526.7_Missense_Mutation_p.E66D|GRIA2_ENST00000393815.2_Missense_Mutation_p.E19D|GRIA2_ENST00000507898.1_Missense_Mutation_p.E19D	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	66					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	ACAATTTGGAGGTGGCAAACA	0.502																																						ENST00000296526.7																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(196-198)gaG>gaC		glutamate receptor, ionotropic, AMPA 2	L-Glutamic Acid(DB00142)						111	109	110					4																	158142928		2203	4300	6503	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158142928G>C		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.198G>C	4.37:g.158142928G>C	ENSP00000264426:p.Glu66Asp					GRIA2_ENST00000264426.9_Missense_Mutation_p.E66D|GRIA2_ENST00000504801.1_Intron|GRIA2_ENST00000507898.1_Missense_Mutation_p.E19D|GRIA2_ENST00000449365.1_Missense_Mutation_p.E19D|GRIA2_ENST00000393815.2_Missense_Mutation_p.E19D	p.E66D	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	2	523	+	all_hematologic(180;0.24)	Renal(120;0.0458)	66					A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.198G>C	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791911	0.50102	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000509417;ENST00000296526;ENST00000264426;ENST00000506284;ENST00000505888;ENST00000449365	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	5.35	5.35	0.76521	Extracellular ligand-binding receptor (1);	0.050340	0.85682	D	0.000000	T	0.72803	0.3506	N	0.11427	0.14	0.53688	D	0.999978	P;B;P	0.40197	0.706;0.0;0.706	B;B;B	0.42163	0.378;0.001;0.305	T	0.71695	-0.4515	10	0.19590	T	0.45	.	18.6636	0.91479	0.0:0.0:1.0:0.0	.	66;66;19	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	D	19;19;66;66;66;19;19;19	ENSP00000426845:E19D;ENSP00000377403:E19D;ENSP00000425217:E66D;ENSP00000296526:E66D;ENSP00000264426:E66D;ENSP00000426513:E19D;ENSP00000422038:E19D;ENSP00000389837:E19D	ENSP00000264426:E66D	E	+	3	2	GRIA2	158362378	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.256000	0.51492	2.497000	0.84241	0.555000	0.69702	GAG		0.502	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			11	109	0	0	0	0.028581	0	11	109					C	158142928	G	C	158142928	3	2	125	1	0	0	0	0	1	0	0	0	6768	991	35	4	204	4	GRIA2	4	158142928	Missense_Mutation	SNP	G	TCGA-DJ-A3UT-01A-11D-A22D-08		158142928	33011348	10	2692											
ZNF608	57507	broad.mit.edu	37	chr5	123980144	123980144	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcagcttgctctcctccaTtgattgagaatcaggatgct	8	10	3	2	rs141350098	byFrequency	TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr5:123980144T>C	ENST00000306315.5	-	5	4351	c.3916A>G	c.(3916-3918)Atg>Gtg	p.M1306V	ZNF608_ENST00000504926.1_Missense_Mutation_p.M879V|ZNF608_ENST00000513985.1_5'Flank	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1306							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)		CTCTCCTCCATTGATTGAGAA	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.(3916-3918)Atg>Gtg		zinc finger protein 608		T	VAL/MET	1,4405	2.1+/-5.4	0,1,2202	268	260	263		3916	-6.0	0.0	5	dbSNP_134	263	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ZNF608	NM_020747.2	21	0,2,6501	CC,CT,TT		0.0116,0.0227,0.0154	benign	1306/1513	123980144	2,13004	2203	4300	6503	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:123980144T>C	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.3916A>G	5.37:g.123980144T>C	ENSP00000307746:p.Met1306Val					ZNF608_ENST00000504926.1_Missense_Mutation_p.M879V	p.M1306V	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)	5	4351	-		all_cancers(142;0.186)|Prostate(80;0.081)	1306					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.3916A>G	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	T	5.688	0.311559	0.10789	2.27E-4	1.16E-4	ENSG00000168916	ENST00000504926;ENST00000306315	T;T	0.40476	1.03;1.04	5.76	-5.98	0.02220	.	0.627824	0.17163	N	0.184585	T	0.07458	0.0188	N	0.00538	-1.39	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.37103	-0.9720	9	.	.	.	-2.636	2.2344	0.04004	0.3184:0.3574:0.2004:0.1239	.	1306	Q9ULD9	ZN608_HUMAN	V	879;1306	ENSP00000427657:M879V;ENSP00000307746:M1306V	.	M	-	1	0	ZNF608	124008043	0.000000	0.05858	0.020000	0.16555	0.993000	0.82548	-2.076000	0.01373	-0.509000	0.06532	0.523000	0.50628	ATG		0.478	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		6	317	0	0	0	0.021553	0	6	317					C	123980144	T	C	123980144	3	2	125	1	0	0	0	0	1	0	0	0	18031	1493	52	3	642	3	ZNF608	5	123980144	Missense_Mutation	SNP	T	TCGA-DJ-A3UT-01A-11D-A22D-08		123980144	56935116	11	2693											
GRIA1	2890	broad.mit.edu	37	chr5	153026644	153026644	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagtttgtccttcagctgcGccctgaactgcaggatgccc	10	14	2	1	rs149549228		TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr5:153026644G>A	ENST00000285900.5	+	3	720	c.377G>A	c.(376-378)cGc>cAc	p.R126H	GRIA1_ENST00000521843.2_Missense_Mutation_p.R57H|GRIA1_ENST00000448073.4_Missense_Mutation_p.R136H|GRIA1_ENST00000340592.5_Missense_Mutation_p.R126H|GRIA1_ENST00000518783.1_Missense_Mutation_p.R136H|GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000518862.1_3'UTR	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	126					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CTTCAGCTGCGCCCTGAACTG	0.507																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(376-378)cGc>cAc		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	152	139	143		377,377	5.6	1.0	5	dbSNP_134	143	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GRIA1	NM_000827.3,NM_001114183.1	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	126/907,126/907	153026644	1,13005	2203	4300	6503	SO:0001583	missense	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153026644G>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.377G>A	5.37:g.153026644G>A	ENSP00000285900:p.Arg126His					GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000518783.1_Missense_Mutation_p.R136H|GRIA1_ENST00000521843.2_Missense_Mutation_p.R57H|GRIA1_ENST00000448073.4_Missense_Mutation_p.R136H|GRIA1_ENST00000340592.5_Missense_Mutation_p.R126H	p.R126H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		3	720	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	126					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.377G>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	32	5.130291	0.94473	0.0	1.16E-4	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	D;D;D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82;-2.82;-2.82	5.55	5.55	0.83447	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.94149	0.8123	L	0.53249	1.67	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.998	D;D;D;D;P	0.97110	1.0;1.0;1.0;0.999;0.856	D	0.93603	0.6932	10	0.46703	T	0.11	.	18.489	0.90839	0.0:0.0:1.0:0.0	.	136;136;136;126;126	E7ESV8;B7Z9G9;B7Z2W8;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	H	126;126;80;126;57;57;136;136	ENSP00000285900:R126H;ENSP00000339343:R126H;ENSP00000427864:R57H;ENSP00000442108:R57H;ENSP00000428994:R136H;ENSP00000415569:R136H	ENSP00000285900:R126H	R	+	2	0	GRIA1	153006837	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.514000	0.98013	2.612000	0.88384	0.655000	0.94253	CGC		0.507	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			36	127	0	0	0	0.027894	0	36	127					A	153026644	G	A	153026644	3	1	125	1	0	0	0	0	1	0	0	0	6767	1087	38	1	387	1	GRIA1	5	153026644	Missense_Mutation	SNP	G	TCGA-DJ-A3UT-01A-11D-A22D-08	29046500	153026644	27888616	12	2694											
ZNF346	23567	broad.mit.edu	37	chr5	176468158	176468158	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atccagaagaaccaatgtctCttcaccaacacccagtgtaa	5	13	2	2			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr5:176468158C>T	ENST00000358149.3	+	2	250	c.207C>T	c.(205-207)ctC>ctT	p.L69L	ZNF346_ENST00000511834.1_Silent_p.L69L|ZNF346_ENST00000503425.1_Silent_p.L69L|ZNF346_ENST00000512315.1_Intron|ZNF346_ENST00000503039.1_Silent_p.L94L|ZNF346_ENST00000506693.1_Intron|ZNF346_ENST00000261948.4_Silent_p.L94L	NM_012279.2	NP_036411.1	Q9UL40	ZN346_HUMAN	zinc finger protein 346	69					positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	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)			ACCAATGTCTCTTCACCAACA	0.453																																						ENST00000503039.1																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14						c.(280-282)ctC>ctT		zinc finger protein 346							296	265	275					5																	176468158		2203	4300	6503	SO:0001819	synonymous_variant	23567					cytoplasm|nucleolus	double-stranded RNA binding|zinc ion binding	g.chr5:176468158C>T	AF083340	CCDS4409.1	5q35.3	2012-10-05			ENSG00000113761	ENSG00000113761			16403	protein-coding gene	gene with protein product		605308				10488071	Standard	NM_012279		Approved	JAZ, Zfp346	uc003mfi.3	Q9UL40	OTTHUMG00000130848	ENST00000358149.3:c.207C>T	5.37:g.176468158C>T						ZNF346_ENST00000261948.4_Silent_p.L94L|ZNF346_ENST00000503425.1_Silent_p.L69L|ZNF346_ENST00000358149.3_Silent_p.L69L|ZNF346_ENST00000512315.1_Intron|ZNF346_ENST00000506693.1_Intron|ZNF346_ENST00000511834.1_Silent_p.L69L	p.L94L			Q9UL40	ZN346_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	286	+	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	69					B7Z367|Q68CV9|Q6ZMW1	Silent	SNP	ENST00000358149.3	37	c.282C>T	CCDS4409.1																																																																																				0.453	ZNF346-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253415.2	NM_012279		34	221	0	0	0	0.023175	0	34	221					T	176468158	C	T	176468158	2	4	125	1	0	0	0	0	0	0	0	1	17857	900	32	2		2	ZNF346	5	176468158	Silent	SNP	C	TCGA-DJ-A3UT-01A-11D-A22D-08	23441514	176468158	4447102	13	2695											
THEMIS	387357	broad.mit.edu	37	chr6	128150695	128150695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctttaggaaatggattcGttgagtcccacttatttgaa	9	6	1	2			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr6:128150695G>A	ENST00000368248.2	-	3	783	c.635C>T	c.(634-636)aCg>aTg	p.T212M	THEMIS_ENST00000543064.1_Missense_Mutation_p.T212M|THEMIS_ENST00000368250.1_Missense_Mutation_p.T133M|THEMIS_ENST00000537166.1_Missense_Mutation_p.T177M	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	212	CABIT 1.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						AAATGGATTCGTTGAGTCCCA	0.358																																						ENST00000368250.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						c.(397-399)aCg>aTg		thymocyte selection associated							123	119	121					6																	128150695		2203	4300	6503	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128150695G>A	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"thymocyte expressed molecule involved in selection"	613607	"chromosome 6 open reading frame 207", "chromosome 6 open reading frame 190", "thymocyte selection pathway associated"	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.635C>T	6.37:g.128150695G>A	ENSP00000357231:p.Thr212Met					THEMIS_ENST00000543064.1_Missense_Mutation_p.T212M|THEMIS_ENST00000537166.1_Missense_Mutation_p.T177M|THEMIS_ENST00000368248.2_Missense_Mutation_p.T212M	p.T133M			Q8N1K5	THMS1_HUMAN			4	896	-			212			CABIT 1.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.398C>T	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.038361	0.35989	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.14144	2.53;2.53;2.53;2.53	6.14	-0.387	0.12463	.	0.652034	0.16370	N	0.217350	T	0.03434	0.0099	L	0.47716	1.5	0.09310	N	1	B;B	0.18610	0.029;0.023	B;B	0.15484	0.005;0.013	T	0.42258	-0.9462	10	0.27785	T	0.31	-0.7853	7.935	0.29925	0.3086:0.0:0.5905:0.101	.	212;212	F5H1J9;Q8N1K5	.;THMS1_HUMAN	M	133;212;212;177	ENSP00000357233:T133M;ENSP00000439594:T212M;ENSP00000357231:T212M;ENSP00000439863:T177M	ENSP00000357231:T212M	T	-	2	0	THEMIS	128192388	0.005000	0.15991	0.170000	0.22879	0.807000	0.45602	0.243000	0.18106	-0.022000	0.13986	-0.827000	0.03088	ACG		0.358	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		5	92	0	0	0	0.021553	0	5	92					A	128150695	G	A	128150695	3	1	125	1	0	0	0	0	1	0	0	0	15857	1145	40	1	1427	1	THEMIS	6	128150695	Missense_Mutation	SNP	G	TCGA-DJ-A3UT-01A-11D-A22D-08		128150695	42964372	14	2696											
TG	7038	broad.mit.edu	37	chr8	133899011	133899012	+	Frame_Shift_Del	DEL	AG	AG	-													tcagtttaccaccaacccaaAgagactccagcaaaaccttt							TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr8:133899011_133899012delAG	ENST00000220616.4	+	9	1434_1435	c.1394_1395delAG	c.(1393-1395)aagfs	p.K465fs	TG_ENST00000377869.1_Frame_Shift_Del_p.K465fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	465					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ACCAACCCAAAGAGACTCCAGC	0.465																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(1393-1395)afs		thyroglobulin																																				SO:0001589	frameshift_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133899011_133899012delAG	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.1394_1395delAG	8.37:g.133899013_133899014delAG	ENSP00000220616:p.Lys465fs					TG_ENST00000377869.1_Frame_Shift_Del_p.K465fs	p.K465fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	9	1434_1435	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	465					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Frame_Shift_Del	DEL	ENST00000220616.4	37	c.1394_1395delAG	CCDS34944.1																																																																																				0.465	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		10	112						10	112	---	---	---	---	-	133899012	AG	-	133899011	7	5	125	1	0	1	0	1	0	0	0	0	15810	72	3	0	1428	0	TG	8	133899011	Frame_Shift_Del	DEL	AG	TCGA-DJ-A3UT-01A-11D-A22D-08		133899011	12465011	15	2697											
AMBRA1	55626	broad.mit.edu	37	chr11	46455150	46455150	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attacatatctgcccattggGgacaggctcaccgaaatggc	10	11	2	0	rs532882457		TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr11:46455150G>A	ENST00000458649.2	-	14	3268	c.2850C>T	c.(2848-2850)tcC>tcT	p.S950S	AMBRA1_ENST00000426438.1_Silent_p.S921S|AMBRA1_ENST00000314845.3_Silent_p.S860S|AMBRA1_ENST00000533727.1_Silent_p.S831S|AMBRA1_ENST00000528950.1_Silent_p.S921S|AMBRA1_ENST00000298834.3_Silent_p.S890S|AMBRA1_ENST00000534300.1_Silent_p.S890S			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	950					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TGCCCATTGGGGACAGGCTCA	0.532																																						ENST00000458649.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39						c.(2848-2850)tcC>tcT		autophagy/beclin-1 regulator 1							75	61	66					11																	46455150		2201	4299	6500	SO:0001819	synonymous_variant	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46455150G>A	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	25990	protein-coding gene	gene with protein product	"WD repeat domain 94", "DDB1 and CUL4 associated factor 3"	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.2850C>T	11.37:g.46455150G>A						AMBRA1_ENST00000426438.1_Silent_p.S921S|AMBRA1_ENST00000534300.1_Silent_p.S890S|AMBRA1_ENST00000533727.1_Silent_p.S831S|AMBRA1_ENST00000298834.3_Silent_p.S890S|AMBRA1_ENST00000314845.3_Silent_p.S860S|AMBRA1_ENST00000528950.1_Silent_p.S921S	p.S950S			Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	14	3268	-			950					A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Silent	SNP	ENST00000458649.2	37	c.2850C>T																																																																																					0.532	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		3	60	0	0	0	0.004672	0	3	60					A	46455150	G	A	46455150	2	1	125	1	0	0	0	0	0	0	0	1	565	1219	43	2		2	AMBRA1	11	46455150	Silent	SNP	G	TCGA-DJ-A3UT-01A-11D-A22D-08		46455150	88551366	16	2698											
KCNA5	3741	broad.mit.edu	37	chr12	5154190	5154190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgccccaccagcctcccGcgcccgcccctggggccaac	11	24	0	0			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr12:5154190G>A	ENST00000252321.3	+	1	1106	c.877G>A	c.(877-879)Gcg>Acg	p.A293T		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	293					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)	CCAGCCTCCCGCGCCCGCCCC	0.687																																						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.(877-879)Gcg>Acg		potassium voltage-gated channel, shaker-related subfamily, member 5							29	36	34					12																	5154190		2199	4290	6489	SO:0001583	missense	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5154190G>A	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.877G>A	12.37:g.5154190G>A	ENSP00000252321:p.Ala293Thr						p.A293T	NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN			1	1106	+			293					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	c.877G>A	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	G	0.773	-0.764988	0.02996	.	.	ENSG00000130037	ENST00000252321	D	0.97404	-4.37	4.77	3.85	0.44370	.	1154.810000	0.00166	N	0.000004	D	0.90089	0.6904	N	0.01789	-0.72	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.82190	-0.0580	10	0.11794	T	0.64	.	9.0255	0.36227	0.1676:0.0:0.8324:0.0	.	293	P22460	KCNA5_HUMAN	T	293	ENSP00000252321:A293T	ENSP00000252321:A293T	A	+	1	0	KCNA5	5024451	.	.	0.021000	0.16686	0.249000	0.25844	.	.	2.478000	0.83669	0.561000	0.74099	GCG		0.687	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		4	83	0	0	0	0.009096	0	4	83					A	5154190	G	A	5154190	3	1	125	1	0	0	0	0	1	0	0	0	8006	1087	38	1	879	1	KCNA5	12	5154190	Missense_Mutation	SNP	G	TCGA-DJ-A3UT-01A-11D-A22D-08		5154190	128697705	17	2699											
TSHR	7253	broad.mit.edu	37	chr14	81610320	81610320	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttcatatgcatggccccaAtctcattctatgctctgtca	5	13	5	0			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr14:81610320A>G	ENST00000541158.2	+	11	2240	c.1918A>G	c.(1918-1920)Atc>Gtc	p.I640V	TSHR_ENST00000298171.2_Missense_Mutation_p.I640V|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	640					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CATGGCCCCAATCTCATTCTA	0.463			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															ENST00000541158.2			yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism	E		thyroid  adenoma	toxic thyroid adenoma		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337						c.(1918-1920)Atc>Gtc		thyroid stimulating hormone receptor	Thyrotropin Alfa(DB00024)						186	170	176					14																	81610320		2203	4300	6503	SO:0001583	missense	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81610320A>G	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"GPCR / Class A : Gonadotropin and TSH receptors"	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1918A>G	14.37:g.81610320A>G	ENSP00000441235:p.Ile640Val					RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.I640V	p.I640V			P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	11	2240	+			640					A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	37	c.1918A>G	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	A	17.88	3.496605	0.64186	.	.	ENSG00000165409	ENST00000541158;ENST00000412429;ENST00000298171	T;T	0.71934	-0.61;-0.61	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.85137	0.5628	M	0.85041	2.73	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	D	0.87908	0.2695	10	0.87932	D	0	.	14.8175	0.70045	1.0:0.0:0.0:0.0	.	640	F5GYU5	.	V	640;287;640	ENSP00000441235:I640V;ENSP00000298171:I640V	ENSP00000298171:I640V	I	+	1	0	TSHR	80680073	1.000000	0.71417	0.992000	0.48379	0.924000	0.55760	9.339000	0.96797	1.906000	0.55180	0.459000	0.35465	ATC		0.463	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		5	191	0	0	0	0.021553	0	5	191					G	81610320	A	G	81610320	3	3	125	1	0	0	0	0	1	0	0	0	16619	101	4	3	2093	3	TSHR	14	81610320	Missense_Mutation	SNP	A	TCGA-DJ-A3UT-01A-11D-A22D-08		81610320	25739220	18	2700											
C16orf62	57020	broad.mit.edu	37	chr16	19580877	19580877	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccccctctccatgtttgcAgccactgctgaccccgcagc	8	19	1	1	rs369135032		TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr16:19580877A>C	ENST00000251143.5	+	3	261	c.249A>C	c.(247-249)gcA>gcC	p.A83A	C16orf62_ENST00000538853.1_Silent_p.A172A|C16orf62_ENST00000438132.3_Silent_p.A172A|C16orf62_ENST00000417362.2_Silent_p.A83A|C16orf62_ENST00000542263.1_Silent_p.A172A			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	83						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						CCATGTTTGCAGCCACTGCTG	0.617																																						ENST00000438132.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						c.(514-516)gcA>gcC		chromosome 16 open reading frame 62							38	40	39					16																	19580877		2197	4300	6497	SO:0001819	synonymous_variant	57020					integral to membrane		g.chr16:19580877A>C		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.249A>C	16.37:g.19580877A>C						C16orf62_ENST00000251143.5_Silent_p.A83A|C16orf62_ENST00000542263.1_Silent_p.A172A|C16orf62_ENST00000538853.1_Silent_p.A172A|C16orf62_ENST00000417362.2_Silent_p.A83A	p.A172A	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN			3	564	+			83					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Silent	SNP	ENST00000251143.5	37	c.516A>C																																																																																					0.617	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		3	97	0	0	0	0.009096	0	3	97					C	19580877	A	C	19580877	2	2	125	1	0	0	0	0	0	0	0	1	1825	175	7	5		5	C16orf62	16	19580877	Silent	SNP	A	TCGA-DJ-A3UT-01A-11D-A22D-08		19580877	70773876	19	2701											
EZH1	2145	broad.mit.edu	37	chr17	40865386	40865386	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggagcgggggttgtggagcaTggcatactcctttgctcctt	15	9	0	0			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr17:40865386T>A	ENST00000428826.2	-	11	1166	c.1045A>T	c.(1045-1047)Atg>Ttg	p.M349L	EZH1_ENST00000592743.1_Missense_Mutation_p.M349L|EZH1_ENST00000415827.2_Missense_Mutation_p.M340L|EZH1_ENST00000590078.1_Missense_Mutation_p.M279L|EZH1_ENST00000585893.1_Missense_Mutation_p.M309L|EZH1_ENST00000435174.1_Missense_Mutation_p.M210L			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	349					anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TTGTGGAGCATGGCATACTCC	0.522																																						ENST00000428826.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27						c.(1045-1047)Atg>Ttg		enhancer of zeste homolog 1 (Drosophila)							95	84	88					17																	40865386		2203	4300	6503	SO:0001583	missense	2145				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding	g.chr17:40865386T>A		CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"Chromatin-modifying enzymes / K-methyltransferases"	3526	protein-coding gene	gene with protein product		601674	"enhancer of zeste (Drosophila) homolog 1", "enhancer of zeste homolog 1 (Drosophila)"			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.1045A>T	17.37:g.40865386T>A	ENSP00000404658:p.Met349Leu					EZH1_ENST00000590078.1_Missense_Mutation_p.M279L|EZH1_ENST00000585893.1_Missense_Mutation_p.M309L|EZH1_ENST00000435174.1_Missense_Mutation_p.M210L|EZH1_ENST00000592743.1_Missense_Mutation_p.M349L|EZH1_ENST00000415827.2_Missense_Mutation_p.M340L	p.M349L			Q92800	EZH1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0784)	11	1166	-		Breast(137;0.00104)	349					A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	ENST00000428826.2	37	c.1045A>T	CCDS32659.1	.	.	.	.	.	.	.	.	.	.	T	12.59	1.983366	0.35036	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	T;T	0.78246	-1.16;-1.16	5.26	4.19	0.49359	.	0.243530	0.51477	D	0.000095	T	0.59183	0.2175	N	0.14661	0.345	0.31423	N	0.674086	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.002;0.001;0.002;0.001;0.001	T	0.57075	-0.7873	10	0.31617	T	0.26	.	8.6508	0.34033	0.0:0.1662:0.0:0.8338	.	210;309;355;279;349	Q92800-5;Q92800-3;Q92800-2;Q92800-4;Q92800	.;.;.;.;EZH1_HUMAN	L	352;349;309;210	ENSP00000404658:M349L;ENSP00000404071:M210L	ENSP00000264646:M352L	M	-	1	0	EZH1	38118912	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.908000	0.39907	1.030000	0.39839	0.454000	0.30748	ATG		0.522	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991		6	136	0	0	0	0.00308	0	6	136					A	40865386	T	A	40865386	3	1	125	1	0	0	0	0	1	0	0	0	5333	1464	51	5	1242	5	EZH1	17	40865386	Missense_Mutation	SNP	T	TCGA-DJ-A3UT-01A-11D-A22D-08		40865386	40329824	20	2702											
MN1	4330	broad.mit.edu	37	chr22	28194913	28194915	+	In_Frame_Del	DEL	TGC	TGC	-													gctgctgttgctgttgctgtTgctgctgctgctgctgctgt							TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr22:28194913_28194915delTGC	ENST00000302326.4	-	1	2571_2573	c.1617_1619delGCA	c.(1615-1620)cagcaa>caa	p.539_540QQ>Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	539	Poly-Gln.				intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						ctgttgctgttgctgctgctgct	0.66			T	ETV6	"AML, meningioma"																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"L, O"	ETV6		"AML, meningioma"		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(1615-1620)caa>ca		meningioma (disrupted in balanced translocation) 1				97,257,2400		11,1,74,65,126,1100						-1.7	1.0		dbSNP_130	5	219,38,5727		19,1,180,5,27,2760	no	codingComplex	MN1	NM_002430.2		30,2,254,70,153,3860	A1A1,A1A2,A1R,A2A2,A2R,RR		4.2948,12.854,6.9924				316,295,8127				SO:0001651	inframe_deletion	4330						binding	g.chr22:28194913_28194915delTGC	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1617_1619delGCA	22.37:g.28194922_28194924delTGC	ENSP00000304956:p.Gln550del						p.QQ549del	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	2571_2573	-			549			Poly-Gln.		A9Z1V9	In_Frame_Del	DEL	ENST00000302326.4	37	c.1617_1619delGCA	CCDS42998.1																																																																																				0.66	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		3	5						3	5	---	---	---	---	-	28194915	TGC	-	28194913	7	5	125	1	0	1	0	1	0	0	0	0	9673	1812	63	0	2351	0	MN1	22	28194913	In_Frame_Del	DEL	TGC	TCGA-DJ-A3UT-01A-11D-A22D-08		28194913	23109653	21	2703											
RBMX2	51634	broad.mit.edu	37	chrX	129546577	129546577	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaggacctagagagggagCtgaagaaggagaaacccaag	15	7	0	5			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chrX:129546577C>T	ENST00000305536.6	+	6	788	c.724C>T	c.(724-726)Ctg>Ttg	p.L242L		NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	242	Lys-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						AGAGAGGGAGCTGAAGAAGGA	0.572																																						ENST00000305536.6																			0				breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.(724-726)Ctg>Ttg		RNA binding motif protein, X-linked 2							52	51	51					X																	129546577		1927	4130	6057	SO:0001819	synonymous_variant	51634						nucleotide binding|RNA binding	g.chrX:129546577C>T	AF078865	CCDS43993.1	Xq26.1	2013-02-12			ENSG00000134597	ENSG00000134597		"RNA binding motif (RRM) containing"	24282	protein-coding gene	gene with protein product						10810093	Standard	NM_016024		Approved	CGI-79	uc004evt.3	Q9Y388	OTTHUMG00000022395	ENST00000305536.6:c.724C>T	X.37:g.129546577C>T							p.L242L	NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN			6	788	+			242			Lys-rich.		A8K9Z0|Q5JY82|Q9Y3I8	Silent	SNP	ENST00000305536.6	37	c.724C>T	CCDS43993.1																																																																																				0.572	RBMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058265.1	NM_016024		3	41	0	0	0	0.009096	0	3	41					T	129546577	C	T	129546577	2	4	125	1	0	0	0	0	0	0	0	1	13152	796	28	2		2	RBMX2	23	129546577	Silent	SNP	C	TCGA-DJ-A3UT-01A-11D-A22D-08		129546577	25723983	22	2704											
GPR39	2863	broad.mit.edu	37	chr2	133402697	133402697	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgattgttgtgacattggccGtatgctggatgcccaaccag	12	9	0	2			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr2:133402697G>A	ENST00000329321.3	+	2	1349	c.880G>A	c.(880-882)Gta>Ata	p.V294I	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	294					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)|metal ion binding (GO:0046872)	p.V294I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GACATTGGCCGTATGCTGGAT	0.527																																						ENST00000329321.3																			1	Substitution - Missense(1)	p.V294I(1)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(880-882)Gta>Ata		G protein-coupled receptor 39							83	73	76					2																	133402697		2203	4300	6503	SO:0001583	missense	2863					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr2:133402697G>A	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"GPCR / Class A : Orphans"	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.880G>A	2.37:g.133402697G>A	ENSP00000327417:p.Val294Ile					GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	p.V294I	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN			2	1349	+			294					B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	ENST00000329321.3	37	c.880G>A	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	G	7.134	0.580535	0.13686	.	.	ENSG00000183840	ENST00000329321	T	0.36699	1.24	5.3	2.55	0.30701	GPCR, rhodopsin-like superfamily (1);	0.295611	0.31660	N	0.007262	T	0.16214	0.0390	N	0.16602	0.42	0.51012	D	0.999906	B	0.14805	0.011	B	0.11329	0.006	T	0.12268	-1.0554	10	0.06365	T	0.9	.	5.7302	0.18036	0.2596:0.2498:0.4906:0.0	.	294	O43194	GPR39_HUMAN	I	294	ENSP00000327417:V294I	ENSP00000327417:V294I	V	+	1	0	GPR39	133119167	0.163000	0.22920	0.486000	0.27416	0.888000	0.51559	0.528000	0.23002	0.389000	0.25086	-0.143000	0.13931	GTA		0.527	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			3	89	0	0	0	1	0	3	89					A	133402697	G	A	133402697	3	1	126	1	0	0	0	0	1	0	0	0	6693	1145	40	1	886	1	GPR39	2	133402697	Missense_Mutation	SNP	G	TCGA-DJ-A3UU-01A-11D-A22D-08		133402697	109796676	1	2705											
COL25A1	84570	broad.mit.edu	37	chr4	109745340	109745340	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaggtcaccttttctcccTtttctcctagatcacccttc	5	15	4	2			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr4:109745340T>C	ENST00000399132.1	-	35	2365	c.1835A>G	c.(1834-1836)aAg>aGg	p.K612R	COL25A1_ENST00000399127.1_Missense_Mutation_p.K615R|COL25A1_ENST00000399126.1_Missense_Mutation_p.K612R	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CTTTTCTCCCTTTTCTCCTAG	0.438																																						ENST00000399132.1																			0				NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49						c.(1834-1836)aAg>aGg		collagen, type XXV, alpha 1							171	178	176					4																	109745340		1965	4159	6124	SO:0001583	missense	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109745340T>C	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"Collagens"	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1835A>G	4.37:g.109745340T>C	ENSP00000382083:p.Lys612Arg					COL25A1_ENST00000399126.1_Missense_Mutation_p.K612R|COL25A1_ENST00000399127.1_Missense_Mutation_p.K615R	p.K612R	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	35	2365	-		Hepatocellular(203;0.217)	612			Collagen-like 7.			Missense_Mutation	SNP	ENST00000399132.1	37	c.1835A>G	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	T	14.25	2.479246	0.44044	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000399127;ENST00000399126	D;D;D	0.96200	-3.2;-3.36;-3.94	5.9	5.9	0.94986	.	0.093336	0.64402	D	0.000001	D	0.88883	0.6558	N	0.17564	0.495	0.33236	D	0.556625	B;B	0.24186	0.099;0.071	B;B	0.22753	0.041;0.038	D	0.86776	0.1976	9	.	.	.	-7.4013	8.6295	0.33911	0.0:0.1422:0.0:0.8578	.	612;612	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	R	612;614;615;612	ENSP00000382083:K612R;ENSP00000382078:K615R;ENSP00000382077:K612R	.	K	-	2	0	COL25A1	109964789	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.516000	0.45520	2.250000	0.74265	0.533000	0.62120	AAG		0.438	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		3	108	0	0	0	1	0	3	108					C	109745340	T	C	109745340	3	2	126	1	0	0	0	0	1	0	0	0	3684	1609	56	3	229	3	COL25A1	4	109745340	Missense_Mutation	SNP	T	TCGA-DJ-A3UU-01A-11D-A22D-08		109745340	81408936	2	2706											
BRIX1	55299	broad.mit.edu	37	chr5	34915926	34915926	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaacgaaatagatgcggagcCgccagctaagcggcacgcca	12	12	0	1			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr5:34915926C>A	ENST00000336767.5	+	1	446	c.83C>A	c.(82-84)cCg>cAg	p.P28Q	BRIX1_ENST00000506023.1_3'UTR|RAD1_ENST00000341754.4_Intron|RAD1_ENST00000382038.2_5'UTR	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN	BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)	28					ribosome biogenesis (GO:0042254)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|large_intestine(2)|lung(1)	4						GATGCGGAGCCGCCAGCTAAG	0.617																																						ENST00000336767.5																			0				central_nervous_system(1)|large_intestine(2)|lung(1)	4						c.(82-84)cCg>cAg		BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)							43	45	44					5																	34915926		2186	4285	6471	SO:0001583	missense	55299				ribosome biogenesis|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|protein binding	g.chr5:34915926C>A		CCDS34143.1	5p13.2	2009-09-25	2009-09-25	2009-09-25	ENSG00000113460	ENSG00000113460			24170	protein-coding gene	gene with protein product			"brix domain containing 2"	BXDC2		12477932	Standard	NM_018321		Approved	BRIX, FLJ11100	uc003jja.3	Q8TDN6	OTTHUMG00000162021	ENST00000336767.5:c.83C>A	5.37:g.34915926C>A	ENSP00000338862:p.Pro28Gln					RAD1_ENST00000382038.2_5'UTR|BRIX1_ENST00000506023.1_3'UTR|RAD1_ENST00000341754.4_Intron	p.P28Q	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN			1	446	+			28					A8K0P5|Q3ZTT4|Q8N453|Q96DH1	Missense_Mutation	SNP	ENST00000336767.5	37	c.83C>A	CCDS34143.1	.	.	.	.	.	.	.	.	.	.	c	9.217	1.032429	0.19590	.	.	ENSG00000113460	ENST00000336767	T	0.41065	1.01	4.91	0.542	0.17174	.	1.384590	0.04212	N	0.331986	T	0.22244	0.0536	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.13150	-1.0520	10	0.13853	T	0.58	8.5073	3.7015	0.08384	0.3708:0.4135:0.1351:0.0807	.	28;28	B4E0B8;Q8TDN6	.;BRX1_HUMAN	Q	28	ENSP00000338862:P28Q	ENSP00000338862:P28Q	P	+	2	0	BRIX1	34951683	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.129000	0.15830	-0.122000	0.11766	0.651000	0.88453	CCG		0.617	BRIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366826.2	NM_018321		2	5	1	0	1	1	1	2	5					A	34915926	C	A	34915926	3	1	126	1	0	0	0	0	1	0	0	0	1515	652	23	4	85	4	BRIX1	5	34915926	Missense_Mutation	SNP	C	TCGA-DJ-A3UU-01A-11D-A22D-08		34915926	145999334	3	2707											
ESR1	2099	broad.mit.edu	37	chr6	152332842	152332842	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccttctagaatgtgcctGgctagagatcctgatgattg	10	10	1	4			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr6:152332842G>A	ENST00000206249.3	+	5	1510	c.1148G>A	c.(1147-1149)tGg>tAg	p.W383*	ESR1_ENST00000406599.1_Intron|ESR1_ENST00000427531.2_Nonsense_Mutation_p.W210*|ESR1_ENST00000338799.5_Nonsense_Mutation_p.W383*|ESR1_ENST00000456483.2_Nonsense_Mutation_p.W271*|ESR1_ENST00000440973.1_Nonsense_Mutation_p.W383*|ESR1_ENST00000443427.1_Nonsense_Mutation_p.W383*	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	383	Interaction with AKAP13.|Self-association.|Steroid-binding.|Transactivation AF-2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|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 transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	GAATGTGCCTGGCTAGAGATC	0.488																																						ENST00000440973.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49						c.(1147-1149)tGg>tAg		estrogen receptor 1	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)						146	131	136					6																	152332842		2203	4300	6503	SO:0001587	stop_gained	2099				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr6:152332842G>A	X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"Nuclear hormone receptors"	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.1148G>A	6.37:g.152332842G>A	ENSP00000206249:p.Trp383*					ESR1_ENST00000443427.1_Nonsense_Mutation_p.W383*|ESR1_ENST00000544394.1_Nonsense_Mutation_p.W210*|ESR1_ENST00000456483.2_Nonsense_Mutation_p.W271*|ESR1_ENST00000338799.5_Nonsense_Mutation_p.W383*|ESR1_ENST00000206249.3_Nonsense_Mutation_p.W383*|ESR1_ENST00000406599.1_Intron	p.W383*	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	7	1518	+		Ovarian(120;0.0448)	383			Interaction with AKAP13.|Steroid-binding.		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Nonsense_Mutation	SNP	ENST00000206249.3	37	c.1148G>A	CCDS5234.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.246367|9.246367	0.99113|0.99113	.|.	.|.	ENSG00000091831|ENSG00000091831	ENST00000427531|ENST00000440973;ENST00000338799;ENST00000456483;ENST00000431219;ENST00000443427;ENST00000206249;ENST00000431590;ENST00000544394;ENST00000415488	.|.	.|.	.|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.30978|.	0.0782|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.32134|.	-0.9918|.	3|.	.|0.02654	.|T	.|1	.|.	19.21|19.21	0.93749|0.93749	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	S|X	288|383;383;271;164;383;383;311;210;56	.|.	.|ENSP00000206249:W383X	G|W	+|+	1|2	0|0	ESR1|ESR1	152374535|152374535	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.476000|9.476000	0.97823|0.97823	2.541000|2.541000	0.85698|0.85698	0.591000|0.591000	0.81541|0.81541	GGC|TGG		0.488	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			3	133	0	0	0	1	0	3	133					A	152332842	G	A	152332842	4	1	126	1	0	0	0	0	0	1	0	0	5256	1357	47	2	1166	2	ESR1	6	152332842	Nonsense_Mutation	SNP	G	TCGA-DJ-A3UU-01A-11D-A22D-08		152332842	18782225	4	2708											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		30	70	0	0	0	1	0	30	70					T	140453136	A	T	140453136	3	4	126	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3UU-01A-11D-A22D-08		140453136	18685527	5	2709											
RNF170	81790	broad.mit.edu	37	chr8	42716925	42716925	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaatctccggttataatcaTtaatatcctgatgcaatctc	5	9	3	2			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr8:42716925T>G	ENST00000534961.1	-	6	946	c.470A>C	c.(469-471)aAt>aCt	p.N157T	RNF170_ENST00000319104.3_Intron|RNF170_ENST00000526349.1_Missense_Mutation_p.N73T|RNF170_ENST00000319073.4_Missense_Mutation_p.N61T|RNF170_ENST00000527424.1_Missense_Mutation_p.N157T	NM_001160223.1	NP_001153695.1	Q96K19	RN170_HUMAN	ring finger protein 170	157					protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			lung(3)	3	all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GTTATAATCATTAATATCCTG	0.348																																						ENST00000534961.1																			0				lung(3)	3						c.(469-471)aAt>aCt		ring finger protein 170							91	83	85					8																	42716925		2203	4300	6503	SO:0001583	missense	81790					integral to membrane	zinc ion binding	g.chr8:42716925T>G	AL136620	CCDS6138.1, CCDS55229.1, CCDS55230.1	8p11.21	2014-01-29				ENSG00000120925		"RING-type (C3HC4) zinc fingers"	25358	protein-coding gene	gene with protein product		614649	"sensory ataxia 1 (autosomal dominant)"	SNAX1		11230166, 21115467	Standard	NR_027668		Approved	DKFZP564A022, ADSA	uc003xpm.3	Q96K19		ENST00000534961.1:c.470A>C	8.37:g.42716925T>G	ENSP00000445725:p.Asn157Thr					RNF170_ENST00000527424.1_Missense_Mutation_p.N157T|RNF170_ENST00000319104.3_Intron|RNF170_ENST00000319073.4_Missense_Mutation_p.N61T|RNF170_ENST00000526349.1_Missense_Mutation_p.N73T	p.N157T	NM_001160223.1	NP_001153695.1	Q96K19	RN170_HUMAN	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)		6	946	-	all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	157					D3DSY6|E9PIL4|Q7Z483|Q86YC0|Q8IXR7|Q8N2B5|Q8N5G9|Q8NG30|Q9H0V6	Missense_Mutation	SNP	ENST00000534961.1	37	c.470A>C	CCDS6138.1	.	.	.	.	.	.	.	.	.	.	T	11.34	1.610534	0.28712	.	.	ENSG00000120925	ENST00000534961;ENST00000319073;ENST00000527424;ENST00000526349	D;T;D;D	0.86627	-1.63;-1.02;-1.63;-2.15	5.86	3.49	0.39957	.	0.172112	0.64402	D	0.000007	T	0.80193	0.4578	L	0.53729	1.69	0.46396	D	0.999024	B;B;B	0.25772	0.134;0.041;0.065	B;B;B	0.26202	0.067;0.019;0.017	T	0.66933	-0.5798	10	0.14252	T	0.57	-6.4509	5.445	0.16529	0.1281:0.1373:0.0:0.7346	.	157;61;157	Q96K19-2;Q96K19-4;Q96K19	.;.;RN170_HUMAN	T	157;61;157;73	ENSP00000445725:N157T;ENSP00000325969:N61T;ENSP00000434797:N157T;ENSP00000435782:N73T	ENSP00000325969:N61T	N	-	2	0	RNF170	42836082	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	2.387000	0.44389	0.483000	0.27608	0.533000	0.62120	AAT		0.348	RNF170-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383166.1	NM_030954		16	64	0	0	0	1	0	16	64					G	42716925	T	G	42716925	3	3	126	1	0	0	0	0	1	0	0	0	13462	1493	52	5	525	5	RNF170	8	42716925	Missense_Mutation	SNP	T	TCGA-DJ-A3UU-01A-11D-A22D-08		42716925	103647097	6	2710											
GOLGA2	2801	broad.mit.edu	37	chr9	131019439	131019439	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcctgggcgctcccggggGttctgcatctcacgaagcag	14	13	2	0	rs150141269	byFrequency	TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr9:131019439G>A	ENST00000421699.2	-	26	2928	c.2916C>T	c.(2914-2916)aaC>aaT	p.N972N	AL590708.1_ENST00000408370.1_RNA|GOLGA2_ENST00000609374.1_Silent_p.N960N	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	972					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						GCTCCCGGGGGTTCTGCATCT	0.592													G|||	2	0.000399361	0	0	5008	,	,		17517	0		0.001	False		,,,				2504	0.001					ENST00000421699.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(2914-2916)aaC>aaT		golgin A2		G		0,4406		0,0,2203	62	69	66		2916	-0.2	0.2	9	dbSNP_134	66	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	GOLGA2	NM_004486.4		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		972/1003	131019439	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	2801					Golgi cisterna membrane	protein binding	g.chr9:131019439G>A	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"Golgi matrix protein GM130", "SY11 protein"	602580	"golgi autoantigen, golgin subfamily a, 2"			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.2916C>T	9.37:g.131019439G>A							p.N972N	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN			26	2928	-			972					Q6GRM9|Q9BRB0|Q9NYF9	Silent	SNP	ENST00000421699.2	37	c.2916C>T	CCDS6896.2																																																																																				0.592	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		3	97	0	0	0	1	0	3	97					A	131019439	G	A	131019439	2	1	126	1	0	0	0	0	0	0	0	1	6552	1252	44	2		2	GOLGA2	9	131019439	Silent	SNP	G	TCGA-DJ-A3UU-01A-11D-A22D-08		131019439	10193992	7	2711											
ATG2A	23130	broad.mit.edu	37	chr11	64677164	64677164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggctctcaccatgtaggtcgGagcaggtgagttccaggtgg	16	9	1	1			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr11:64677164G>A	ENST00000377264.3	-	14	2208	c.2096C>T	c.(2095-2097)tCc>tTc	p.S699F	ATG2A_ENST00000421419.2_Missense_Mutation_p.S699F	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	699					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.S699F(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						ATGTAGGTCGGAGCAGGTGAG	0.632																																						ENST00000421419.2																			1	Substitution - Missense(1)	p.S699F(1)	endometrium(1)	breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(2095-2097)tCc>tTc		autophagy related 2A							53	62	59					11																	64677164		2201	4297	6498	SO:0001583	missense	23130						protein binding	g.chr11:64677164G>A		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"ATG2 autophagy related 2 homolog A (S. cerevisiae)"			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.2096C>T	11.37:g.64677164G>A	ENSP00000366475:p.Ser699Phe					ATG2A_ENST00000377264.3_Missense_Mutation_p.S699F	p.S699F			Q2TAZ0	ATG2A_HUMAN			14	2210	-			699					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.2096C>T	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.017831	0.35606	.	.	ENSG00000110046	ENST00000421419;ENST00000377264	T;T	0.07567	3.18;3.18	4.28	2.21	0.28008	.	0.432715	0.22203	N	0.063204	T	0.08758	0.0217	L	0.50333	1.59	0.22446	N	0.999097	B	0.30406	0.278	B	0.34385	0.181	T	0.20075	-1.0286	10	0.72032	D	0.01	.	5.6929	0.17839	0.1089:0.1982:0.6929:0.0	.	699	Q2TAZ0	ATG2A_HUMAN	F	699	ENSP00000410522:S699F;ENSP00000366475:S699F	ENSP00000366475:S699F	S	-	2	0	ATG2A	64433740	0.857000	0.29778	0.843000	0.33291	0.509000	0.34042	1.282000	0.33226	1.129000	0.42072	0.561000	0.74099	TCC		0.632	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		5	115	0	0	0	1	0	5	115					A	64677164	G	A	64677164	3	1	126	1	0	0	0	0	1	0	0	0	1093	1174	41	2	3832	2	ATG2A	11	64677164	Missense_Mutation	SNP	G	TCGA-DJ-A3UU-01A-11D-A22D-08		64677164	70329352	8	2712											
UTP14C	9724	broad.mit.edu	37	chr13	52602984	52602985	+	Frame_Shift_Del	DEL	AG	AG	-													gaatctggctttgagccaccAggaagaactagtggatttgc							TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr13:52602984_52602985delAG	ENST00000521776.2	+	2	777_778	c.44_45delAG	c.(43-45)cagfs	p.Q15fs	ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	15					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		TTGAGCCACCAGGAAGAACTAG	0.47																																						ENST00000521776.2																			0				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(43-45)cfs		UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)																																				SO:0001589	frameshift_variant	9724				cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome		g.chr13:52602984_52602985delAG	D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"KIAA0266"	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.44_45delAG	13.37:g.52602984_52602985delAG	ENSP00000428619:p.Gln15fs					ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR	p.Q15fs	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN		GBM - Glioblastoma multiforme(99;2.3e-08)	2	777_778	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	15					Q5FWG3|Q92555	Frame_Shift_Del	DEL	ENST00000521776.2	37	c.44_45delAG	CCDS31978.1																																																																																				0.47	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645		25	46						25	46	---	---	---	---	-	52602985	AG	-	52602984	7	5	126	1	0	1	0	1	0	0	0	0	17093	188	7	0	46	0	UTP14C	13	52602984	Frame_Shift_Del	DEL	AG	TCGA-DJ-A3UU-01A-11D-A22D-08		52602984	62566894	9	2713											
GPC6	10082	broad.mit.edu	37	chr13	95055374	95055374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgcagtggatcccgaccGgagagaggtggactcttctg	14	13	2	1			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr13:95055374G>A	ENST00000377047.4	+	9	2186	c.1571G>A	c.(1570-1572)cGg>cAg	p.R524Q		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	524					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GATCCCGACCGGAGAGAGGTG	0.597																																						ENST00000377047.4																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38						c.(1570-1572)cGg>cAg		glypican 6							88	89	89					13																	95055374		2203	4300	6503	SO:0001583	missense	10082					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:95055374G>A	AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"Proteoglycans / Cell Surface : Glypicans"	4454	protein-coding gene	gene with protein product	"glypican proteoglycan 6"	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.1571G>A	13.37:g.95055374G>A	ENSP00000366246:p.Arg524Gln						p.R524Q	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN			9	2186	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)	524					A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	ENST00000377047.4	37	c.1571G>A	CCDS9469.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753929	0.49362	.	.	ENSG00000183098	ENST00000377047	T	0.49432	0.78	5.84	5.0	0.66597	.	0.051820	0.64402	D	0.000001	T	0.39226	0.1070	L	0.34521	1.04	0.26904	N	0.967041	P	0.50443	0.935	B	0.44085	0.44	T	0.24905	-1.0147	10	0.15066	T	0.55	.	15.2279	0.73364	0.0676:0.0:0.9324:0.0	.	524	Q9Y625	GPC6_HUMAN	Q	524	ENSP00000366246:R524Q	ENSP00000366246:R524Q	R	+	2	0	GPC6	93853375	1.000000	0.71417	0.856000	0.33681	0.605000	0.37080	5.306000	0.65756	1.483000	0.48342	0.561000	0.74099	CGG		0.597	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045460.4	NM_005708		3	122	0	0	0	1	0	3	122					A	95055374	G	A	95055374	3	1	126	1	0	0	0	0	1	0	0	0	6602	1116	39	1	1605	1	GPC6	13	95055374	Missense_Mutation	SNP	G	TCGA-DJ-A3UU-01A-11D-A22D-08	42452390	95055374	20114504	10	2714											
ADCY9	115	broad.mit.edu	37	chr16	4164430	4164430	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatcggctatgattcttggCatcacggaatgaatcatcct	8	10	4	2			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr16:4164430C>A	ENST00000294016.3	-	2	1552	c.1014G>T	c.(1012-1014)atG>atT	p.M338I		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	338					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)|cellular response to glucagon stimulus (GO:0071377)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGATTCTTGGCATCACGGAAT	0.502																																						ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1012-1014)atG>atT		adenylate cyclase 9							165	155	158					16																	4164430		2197	4300	6497	SO:0001583	missense	115				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 plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4164430C>A	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1014G>T	16.37:g.4164430C>A	ENSP00000294016:p.Met338Ile						p.M338I	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			2	1552	-			338					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.1014G>T	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127475	0.77549	.	.	ENSG00000162104	ENST00000294016	D	0.84298	-1.83	5.43	5.43	0.79202	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.000000	0.85682	D	0.000000	D	0.92061	0.7484	M	0.73962	2.25	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.91083	0.4901	10	0.40728	T	0.16	.	19.2808	0.94052	0.0:1.0:0.0:0.0	.	338	O60503	ADCY9_HUMAN	I	338	ENSP00000294016:M338I	ENSP00000294016:M338I	M	-	3	0	ADCY9	4104431	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.818000	0.86416	2.574000	0.86865	0.555000	0.69702	ATG		0.502	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			4	169	1	0	1.024e-07	1	1.07055e-07	4	169					A	4164430	C	A	4164430	3	1	126	1	0	0	0	0	1	0	0	0	301	710	25	4	3087	4	ADCY9	16	4164430	Missense_Mutation	SNP	C	TCGA-DJ-A3UU-01A-11D-A22D-08		4164430	86190323	11	2715											
TAT	6898	broad.mit.edu	37	chr16	71607459	71607459	+	Frame_Shift_Del	DEL	C	C	-													caccttagcttctaggggtgCctcaggacagtggtaataag							TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr16:71607459delC	ENST00000355962.4	-	4	524	c.391delG	c.(391-393)gcafs	p.A131fs	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	131					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	TCTAGGGGTGCCTCAGGACAG	0.438																																					Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)	ENST00000355962.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29						c.(391-393)cafs		tyrosine aminotransferase	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)						64	57	59					16																	71607459		2188	4273	6461	SO:0001589	frameshift_variant	6898				2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr16:71607459delC		CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.391delG	16.37:g.71607459delC	ENSP00000348234:p.Ala131fs					RP11-432I5.1_ENST00000561529.1_RNA	p.A131fs	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN		Kidney(780;0.0157)	4	524	-		Ovarian(137;0.125)	131					B2R8I1|D3DWS2	Frame_Shift_Del	DEL	ENST00000355962.4	37	c.391delG	CCDS10903.1																																																																																				0.438	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268989.1			2	4						2	4	---	---	---	---	-	71607459	C	-	71607459	7	5	126	1	0	1	0	1	0	0	0	0	15587	739	26	0	1009	0	TAT	16	71607459	Frame_Shift_Del	DEL	C	TCGA-DJ-A3UU-01A-11D-A22D-08	67443029	71607459	18747294	12	2716											
TRPV3	162514	broad.mit.edu	37	chr17	3458080	3458080	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctctggcaggatggcagggTtcccactgggggcagcaact	15	11	1	0			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr17:3458080T>C	ENST00000576742.1	-	2	386	c.65A>G	c.(64-66)aAc>aGc	p.N22S	TRPV3_ENST00000572519.1_Missense_Mutation_p.N22S|TRPV3_ENST00000301365.4_Missense_Mutation_p.N22S	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	22					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GATGGCAGGGTTCCCACTGGG	0.622																																						ENST00000301365.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35						c.(64-66)aAc>aGc		transient receptor potential cation channel, subfamily V, member 3	Menthol(DB00825)						43	44	43					17																	3458080		2203	4300	6503	SO:0001583	missense	162514					integral to membrane	calcium channel activity	g.chr17:3458080T>C	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.65A>G	17.37:g.3458080T>C	ENSP00000461518:p.Asn22Ser					TRPV3_ENST00000576742.1_Missense_Mutation_p.N22S|TRPV3_ENST00000572519.1_Missense_Mutation_p.N22S	p.N22S			Q8NET8	TRPV3_HUMAN			2	196	-			22					Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	ENST00000576742.1	37	c.65A>G	CCDS11029.1	.	.	.	.	.	.	.	.	.	.	T	7.679	0.688666	0.14973	.	.	ENSG00000167723	ENST00000381913;ENST00000301365	T	0.41400	1.0	4.79	2.46	0.29980	.	0.420762	0.22614	N	0.057785	T	0.20820	0.0501	N	0.14661	0.345	0.21184	N	0.999762	B;B;B	0.17038	0.004;0.02;0.004	B;B;B	0.19946	0.015;0.027;0.015	T	0.06899	-1.0801	10	0.26408	T	0.33	-10.7718	4.6796	0.12729	0.1888:0.0:0.1963:0.6149	.	22;22;22	Q8NET8-3;Q8NET8;Q8NET8-2	.;TRPV3_HUMAN;.	S	22	ENSP00000301365:N22S	ENSP00000301365:N22S	N	-	2	0	TRPV3	3404830	0.732000	0.28121	0.993000	0.49108	0.186000	0.23388	0.930000	0.28858	1.943000	0.56356	0.379000	0.24179	AAC		0.622	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068		3	70	0	0	0	1	0	3	70					C	3458080	T	C	3458080	3	2	126	1	0	0	0	0	1	0	0	0	16594	1725	60	3	2375	3	TRPV3	17	3458080	Missense_Mutation	SNP	T	TCGA-DJ-A3UU-01A-11D-A22D-08		3458080	77737130	13	2717											
IMP5	162540	broad.mit.edu	37	chr17	43923926	43923926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaggcagaagcaggagggcGcagcagatgcccacacagcc	14	13	0	2			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr17:43923926G>A	ENST00000329196.5	+	1	1671	c.1654G>A	c.(1654-1656)Gca>Aca	p.A552T	MAPT-AS1_ENST00000581125.1_RNA|MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	552						endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)										GCAGGAGGGCGCAGCAGATGC	0.612																																						ENST00000329196.5																			0											c.(1654-1656)Gca>Aca		signal peptide peptidase like 2C							44	44	44					17																	43923926		2203	4300	6503	SO:0001583	missense	162540					integral to membrane	aspartic-type endopeptidase activity	g.chr17:43923926G>A		CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"intramembrane protease 5"	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.1654G>A	17.37:g.43923926G>A	ENSP00000332488:p.Ala552Thr					MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	p.A552T	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN			1	1671	+			552					Q8TC67|Q8WVZ6	Missense_Mutation	SNP	ENST00000329196.5	37	c.1654G>A	CCDS32673.1	.	.	.	.	.	.	.	.	.	.	G	9.741	1.164896	0.21538	.	.	ENSG00000185294	ENST00000329196	T	0.05199	3.48	4.71	-9.42	0.00610	.	1.376840	0.05156	N	0.496902	T	0.02767	0.0083	N	0.17474	0.49	0.09310	N	1	B	0.18166	0.026	B	0.08055	0.003	T	0.38950	-0.9637	10	0.13853	T	0.58	-21.1943	4.6264	0.12481	0.5924:0.1832:0.1323:0.092	.	552	Q8IUH8	IMP5_HUMAN	T	552	ENSP00000332488:A552T	ENSP00000332488:A552T	A	+	1	0	AC217771.1	41279706	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.226000	0.02953	-2.381000	0.00594	-0.136000	0.14681	GCA		0.612	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441156.1	NM_175882		3	55	0	0	0	1	0	3	55					A	43923926	G	A	43923926	3	1	126	1	0	0	0	0	1	0	0	0	7721	1087	38	1	1656	1	IMP5	17	43923926	Missense_Mutation	SNP	G	TCGA-DJ-A3UU-01A-11D-A22D-08	40465846	43923926	37271284	14	2718											
PCNT	5116	broad.mit.edu	37	chr21	47754463	47754463	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagtcggtgaccacccaccAgaacagcgtgggatgttcac	11	13	1	2	rs527413251		TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr21:47754463A>G	ENST00000359568.5	+	3	527	c.420A>G	c.(418-420)ccA>ccG	p.P140P	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	140					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.P140P(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACCACCCACCAGAACAGCGTG	0.542													a|||	1	0.000199681	0	0	5008	,	,		19704	0		0	False		,,,				2504	0.001					ENST00000359568.5																			1	Substitution - coding silent(1)	p.P140P(1)	lung(1)	NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(418-420)ccA>ccG		pericentrin							180	120	140					21																	47754463		2203	4300	6503	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47754463A>G	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.420A>G	21.37:g.47754463A>G						PCNT_ENST00000480896.1_3'UTR	p.P140P	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			3	527	+	Breast(49;0.112)		140					O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.420A>G	CCDS33592.1																																																																																				0.542	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		4	117	0	0	0	1	0	4	117					G	47754463	A	G	47754463	2	3	126	1	0	0	0	0	0	0	0	1	11590	175	7	3		3	PCNT	21	47754463	Silent	SNP	A	TCGA-DJ-A3UU-01A-11D-A22D-08		47754463	375432	15	2719											
PDHA1	5160	broad.mit.edu	37	chrX	19369470	19369470	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcacagcctaccgggctcaCggctttactttcacccgggg	10	15	3	0	rs183170654		TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chrX:19369470C>T	ENST00000422285.2	+	4	468	c.363C>T	c.(361-363)caC>caT	p.H121H	PDHA1_ENST00000545074.1_Silent_p.H128H|PDHA1_ENST00000379805.3_Silent_p.H121H|PDHA1_ENST00000540249.1_Silent_p.H121H|PDHA1_ENST00000379806.5_Silent_p.H159H			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	121					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					ACCGGGCTCACGGCTTTACTT	0.517													C|||	1	0.000264901	0	0	3775	,	,		11597	0		0.001	False		,,,				2504	0					ENST00000379806.5																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	GRCh37	CM043047	PDHA1	M	rs183170654	c.(475-477)caC>caT		pyruvate dehydrogenase (lipoamide) alpha 1	NADH(DB00157)						110	101	104					X																	19369470		2203	4300	6503	SO:0001819	synonymous_variant	5160				glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity	g.chrX:19369470C>T		CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.363C>T	X.37:g.19369470C>T						PDHA1_ENST00000545074.1_Silent_p.H128H|PDHA1_ENST00000379805.3_Silent_p.H121H|PDHA1_ENST00000540249.1_Silent_p.H121H|PDHA1_ENST00000422285.2_Silent_p.H121H	p.H159H	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN			5	622	+	Hepatocellular(33;0.183)		121					A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Silent	SNP	ENST00000422285.2	37	c.477C>T	CCDS14192.1																																																																																				0.517	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1			11	206	0	0	0	1	0	11	206					T	19369470	C	T	19369470	2	4	126	1	0	0	0	0	0	0	0	1	11664	535	19	1		1	PDHA1	23	19369470	Silent	SNP	C	TCGA-DJ-A3UU-01A-11D-A22D-08		19369470	135901090	16	2720											
RAB41	407	broad.mit.edu	37	chrX	69502665	69502665	+	IGR	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgcaggcaactgttggaaTtgacttcttgtctaagacca	9	8	2	2			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chrX:69502665T>C	ENST00000307959.8	+	0	1292				RAB41_ENST00000276066.4_Missense_Mutation_p.I65T|RAB41_ENST00000374473.2_Missense_Mutation_p.I66T	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)						endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						ACTGTTGGAATTGACTTCTTG	0.433																																						ENST00000374473.2																			0				breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)	14						c.(196-198)aTt>aCt		RAB41, member RAS oncogene family							216	175	189					X																	69502665		2203	4300	6503	SO:0001628	intergenic_variant	347517				protein transport|small GTPase mediated signal transduction		GTP binding	g.chrX:69502665T>C		CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"arrestin 4"	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768		X.37:g.69502665T>C						RAB41_ENST00000276066.4_Missense_Mutation_p.I65T	p.I66T			Q5JT25	RAB41_HUMAN			3	243	+			66					B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Missense_Mutation	SNP	ENST00000307959.8	37	c.197T>C	CCDS14399.1	.	.	.	.	.	.	.	.	.	.	T	15.20	2.763570	0.49574	.	.	ENSG00000147127	ENST00000509895;ENST00000374473;ENST00000276066	T;T;T	0.81163	-1.46;-1.46;-1.46	4.44	-2.49	0.06403	Small GTP-binding protein domain (1);	0.000000	0.56097	U	0.000021	T	0.79423	0.4443	L	0.46947	1.48	0.31455	N	0.670222	D;D	0.65815	0.995;0.957	P;P	0.61592	0.852;0.891	T	0.76503	-0.2935	10	0.72032	D	0.01	.	5.4605	0.16614	0.0:0.3344:0.141:0.5246	.	65;66	Q5JT25-2;Q5JT25	.;RAB41_HUMAN	T	15;66;65	ENSP00000421643:I15T;ENSP00000363597:I66T;ENSP00000276066:I65T	ENSP00000276066:I65T	I	+	2	0	RAB41	69419390	1.000000	0.71417	0.001000	0.08648	0.682000	0.39822	1.553000	0.36255	-0.721000	0.04929	0.417000	0.27973	ATT		0.433	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057055.2	NM_004312		7	201	0	0	0	1	0	7	201					C	69502665	T	C	69502665	1	2	126	0	1	0	0	0	0	0	0	0	12943	1493	52	3		3	RAB41	23	69502665	IGR	SNP	T	TCGA-DJ-A3UU-01A-11D-A22D-08	50133195	69502665	85767895	17	2721											
ALG13	79868	broad.mit.edu	37	chrX	110952238	110952238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaaatcaggaaggcttgtGtctcatatatgagggaaaat	12	4	2	1			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chrX:110952238G>A	ENST00000394780.3	+	5	808	c.796G>A	c.(796-798)Gtc>Atc	p.V266I	ALG13_ENST00000251943.4_Missense_Mutation_p.V162I|ALG13-AS1_ENST00000430794.1_RNA	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	266	Deubiquitinase activity.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						GAAGGCTTGTGTCTCATATAT	0.398																																						ENST00000394780.3																			0				endometrium(2)|lung(10)|skin(1)	13						c.(796-798)Gtc>Atc		ALG13, UDP-N-acetylglucosaminyltransferase subunit							95	75	81					X																	110952238		1568	3580	5148	SO:0001583	missense	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:110952238G>A	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"Tudor domain containing", "OTU domain containing"	30881	protein-coding gene	gene with protein product	"tudor domain containing 13", "N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"	300776	"glycosyltransferase 28 domain containing 1", "chromosome X open reading frame 45", "asparagine-linked glycosylation 13 homolog (S. cerevisiae)"	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.796G>A	X.37:g.110952238G>A	ENSP00000378260:p.Val266Ile					ALG13-AS1_ENST00000430794.1_RNA|ALG13_ENST00000251943.4_Missense_Mutation_p.V162I	p.V266I	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN			5	808	+			266			OTU.		B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	ENST00000394780.3	37	c.796G>A	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607755	0.66558	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000495283	T;T;T	0.44881	0.91;0.91;0.91	5.67	5.67	0.87782	Ovarian tumour, otubain (2);	0.118599	0.34435	U	0.003976	T	0.52805	0.1757	L	0.31476	0.935	0.42711	D	0.993645	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.994;0.997;0.994	T	0.43909	-0.9362	10	0.24483	T	0.36	-4.1853	17.6548	0.88175	0.0:0.0:1.0:0.0	.	188;266;162	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	I	162;266;162	ENSP00000251943:V162I;ENSP00000378260:V266I;ENSP00000427093:V162I	ENSP00000251943:V162I	V	+	1	0	ALG13	110838894	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.439000	0.80444	2.527000	0.85204	0.600000	0.82982	GTC		0.398	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		7	6	0	0	0	1	0	7	6					A	110952238	G	A	110952238	3	1	126	1	0	0	0	0	1	0	0	0	515	1377	48	2	956	2	ALG13	23	110952238	Missense_Mutation	SNP	G	TCGA-DJ-A3UU-01A-11D-A22D-08	41449573	110952238	44318322	18	2722											
ASH1L	55870	broad.mit.edu	37	chr1	155317613	155317613	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caatctcatcaatctgggctGatgcctcatgccgggcattg	10	12	4	1			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr1:155317613G>A	ENST00000368346.3	-	20	8291	c.7652C>T	c.(7651-7653)tCa>tTa	p.S2551L	MIR555_ENST00000384987.1_RNA|ASH1L_ENST00000392403.3_Missense_Mutation_p.S2546L			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2551					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)			AATCTGGGCTGATGCCTCATG	0.483																																						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.(7651-7653)tCa>tTa		ash1 (absent, small, or homeotic)-like (Drosophila)							197	160	173					1																	155317613		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.chr1:155317613G>A	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.7652C>T	1.37:g.155317613G>A	ENSP00000357330:p.Ser2551Leu					ASH1L_ENST00000392403.3_Missense_Mutation_p.S2546L	p.S2551L			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		20	8291	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2551					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.7652C>T		.	.	.	.	.	.	.	.	.	.	G	23.7	4.451597	0.84209	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	T;T	0.16457	2.34;2.34	5.4	5.4	0.78164	Bromodomain (3);	0.058282	0.64402	D	0.000002	T	0.06005	0.0156	N	0.08118	0	0.80722	D	1	P;D	0.53885	0.937;0.963	B;B	0.43445	0.24;0.42	T	0.38908	-0.9639	10	0.25106	T	0.35	.	18.9481	0.92630	0.0:0.0:1.0:0.0	.	2551;2546	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	L	2551;2546	ENSP00000357330:S2551L;ENSP00000376204:S2546L	ENSP00000357330:S2551L	S	-	2	0	ASH1L	153584237	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.958000	0.93099	2.809000	0.96659	0.655000	0.94253	TCA		0.483	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		3	150	0	0	0	1	0	3	150					A	155317613	G	A	155317613	3	1	127	1	0	0	0	0	1	0	0	0	1041	1294	45	2	1293	2	ASH1L	1	155317613	Missense_Mutation	SNP	G	TCGA-DJ-A3UV-01A-11D-A22D-08		155317613	93933008	1	2723											
STK32B	55351	broad.mit.edu	37	chr4	5500727	5500727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacaccgacagccgagggGgaggccaggcccaaagcaag	16	12	0	0			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr4:5500727G>A	ENST00000282908.5	+	12	1584	c.1162G>A	c.(1162-1164)Gga>Aga	p.G388R	STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000512636.1_Missense_Mutation_p.G311R|STK32B_ENST00000510398.1_Missense_Mutation_p.G341R	NM_018401.1	NP_060871.1			serine/threonine kinase 32B											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						CAGCCGAGGGGGAGGCCAGGC	0.627																																						ENST00000282908.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						c.(1162-1164)Gga>Aga		serine/threonine kinase 32B							148	114	125					4																	5500727		2203	4300	6503	SO:0001583	missense	55351						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr4:5500727G>A	AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.1162G>A	4.37:g.5500727G>A	ENSP00000282908:p.Gly388Arg					STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000510398.1_Missense_Mutation_p.G341R|STK32B_ENST00000512636.1_Missense_Mutation_p.G311R	p.G388R	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN			12	1584	+			388						Missense_Mutation	SNP	ENST00000282908.5	37	c.1162G>A	CCDS3380.1	.	.	.	.	.	.	.	.	.	.	G	4.644	0.119802	0.08881	.	.	ENSG00000152953	ENST00000282908;ENST00000512636;ENST00000510398	T;T;T	0.67698	-0.21;0.12;-0.28	4.94	4.04	0.47022	.	0.457681	0.15429	U	0.262810	T	0.48572	0.1507	N	0.25647	0.755	0.09310	N	1	P	0.35208	0.49	B	0.32624	0.149	T	0.28106	-1.0054	10	0.15952	T	0.53	.	10.4152	0.44318	0.0:0.1984:0.8016:0.0	.	388	Q9NY57	ST32B_HUMAN	R	388;311;341	ENSP00000282908:G388R;ENSP00000423209:G311R;ENSP00000420984:G341R	ENSP00000282908:G388R	G	+	1	0	STK32B	5551628	0.013000	0.17824	0.127000	0.21898	0.023000	0.10783	1.222000	0.32515	2.302000	0.77476	0.561000	0.74099	GGA		0.627	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206854.4	NM_018401		3	55	0	0	0	1	0	3	55					A	5500727	G	A	5500727	3	1	127	1	0	0	0	0	1	0	0	0	15297	1233	43	2	1208	2	STK32B	4	5500727	Missense_Mutation	SNP	G	TCGA-DJ-A3UV-01A-11D-A22D-08		5500727	185653549	2	2724											
PRKAA1	5562	broad.mit.edu	37	chr5	40767657	40767657	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggatttaaatattgaggGgtatagaagatcccatcaca	10	5	1	3			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr5:40767657G>A	ENST00000397128.2	-	6	740	c.732C>T	c.(730-732)acC>acT	p.T244T	PRKAA1_ENST00000354209.3_Silent_p.T259T	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	244	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to glucose starvation (GO:0042149)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|cold acclimation (GO:0009631)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|fatty acid oxidation (GO:0019395)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of glucosylceramide biosynthetic process (GO:0046318)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of gene expression (GO:0010628)|positive regulation of glycolytic process (GO:0045821)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of transcription, DNA-templated (GO:0006355)|regulation of vesicle-mediated transport (GO:0060627)|response to activity (GO:0014823)|response to caffeine (GO:0031000)|response to camptothecin (GO:1901563)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	AMP-activated protein kinase complex (GO:0031588)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|tau-protein kinase activity (GO:0050321)			breast(1)	1					Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	AATATTGAGGGGTATAGAAGA	0.388																																						ENST00000397128.2																			0				breast(1)	1						c.(730-732)acC>acT		protein kinase, AMP-activated, alpha 1 catalytic subunit	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)						114	106	109					5																	40767657		1839	4099	5938	SO:0001819	synonymous_variant	5562				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding	g.chr5:40767657G>A		CCDS3932.2, CCDS3933.2	5p13.1	2012-10-03			ENSG00000132356	ENSG00000132356			9376	protein-coding gene	gene with protein product	"AMPK, alpha, 1"	602739				8557660	Standard	XM_006714481		Approved	AMPKa1	uc003jmb.3	Q13131	OTTHUMG00000162269	ENST00000397128.2:c.732C>T	5.37:g.40767657G>A						PRKAA1_ENST00000354209.3_Silent_p.T259T	p.T244T	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN			6	740	-			244			Protein kinase.		A8MTQ6|B2R7E1|O00286|Q5D0E1|Q86VS1|Q9UNQ4	Silent	SNP	ENST00000397128.2	37	c.732C>T	CCDS3932.2																																																																																				0.388	PRKAA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253833.2	NM_006251		4	82	0	0	0	1	0	4	82					A	40767657	G	A	40767657	2	1	127	1	0	0	0	0	0	0	0	1	12493	1219	43	2		2	PRKAA1	5	40767657	Silent	SNP	G	TCGA-DJ-A3UV-01A-11D-A22D-08		40767657	140147603	3	2725											
HMMR	3161	broad.mit.edu	37	chr5	162917425	162917426	+	Frame_Shift_Ins	INS	-	-	A													aactccgctgtcagcttgctINSaaaaaaaaacaaagtgagac							TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr5:162917425_162917426insA	ENST00000358715.3	+	17	2025_2026	c.1989_1990insA	c.(1990-1992)aaafs	p.K664fs	HMMR_ENST00000393915.4_Frame_Shift_Ins_p.K665fs|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000432118.2_Frame_Shift_Ins_p.K578fs|HMMR_ENST00000353866.3_Frame_Shift_Ins_p.K649fs|RP11-80G7.1_ENST00000514724.2_RNA			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	664	Hyaluronic acid-binding. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	GTCAGCTTGCTAAAAAAAAACA	0.307																																						ENST00000416990.2																			0				cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23						c.(1645-1650)gcaaaafs		hyaluronan-mediated motility receptor (RHAMM)																																				SO:0001589	frameshift_variant	3161					cell surface|cytoplasm	hyaluronic acid binding	g.chr5:162917425_162917426insA	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"CD molecules"	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1998dupA	5.37:g.162917434_162917434dupA	ENSP00000351554:p.Lys664fs					HMMR_ENST00000358715.3_Frame_Shift_Ins_p.AK663fs|RP11-80G7.1_ENST00000514724.2_RNA|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000432118.2_Frame_Shift_Ins_p.AK577fs|HMMR_ENST00000353866.3_Frame_Shift_Ins_p.AK648fs|HMMR_ENST00000393915.4_Frame_Shift_Ins_p.AK664fs	p.AK549fs			O75330	HMMR_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	17	2144_2145	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	663					A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Frame_Shift_Ins	INS	ENST00000358715.3	37	c.1647_1648insA	CCDS4362.1																																																																																				0.307	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484		9	65						9	65	---	---	---	---	A	162917426	-	A	162917425	7	5	127	1	0	1	1	0	0	0	0	0	7242	1509	53	0	2058	0	HMMR	5	162917425	Frame_Shift_Ins	INS	-	TCGA-DJ-A3UV-01A-11D-A22D-08	122149768	162917425	17997835	4	2726											
ASNS	440	broad.mit.edu	37	chr7	97488559	97488559	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacattgtcatagagggcGtgcaggggtacatcccgaca	12	11	1	1	rs200653570		TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr7:97488559G>A	ENST00000394309.3	-	5	1110	c.639C>T	c.(637-639)caC>caT	p.H213H	ASNS_ENST00000394308.3_Silent_p.H213H|ASNS_ENST00000422745.1_Silent_p.H192H|ASNS_ENST00000444334.1_Silent_p.H192H|ASNS_ENST00000437628.1_Silent_p.H130H|ASNS_ENST00000175506.4_Silent_p.H213H|ASNS_ENST00000455086.1_Silent_p.H130H	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	213	Asparagine synthetase.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CATAGAGGGCGTGCAGGGGTA	0.433																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)	ENST00000175506.4																			0				ovary(1)	1						c.(637-639)caC>caT		asparagine synthetase (glutamine-hydrolyzing)	Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						102	105	104					7																	97488559		2203	4300	6503	SO:0001819	synonymous_variant	440				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	g.chr7:97488559G>A	M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"asparagine synthetase"				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.639C>T	7.37:g.97488559G>A						ASNS_ENST00000422745.1_Silent_p.H192H|ASNS_ENST00000437628.1_Silent_p.H130H|ASNS_ENST00000394309.3_Silent_p.H213H|ASNS_ENST00000444334.1_Silent_p.H192H|ASNS_ENST00000455086.1_Silent_p.H130H|ASNS_ENST00000394308.3_Silent_p.H213H	p.H213H	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN			6	1167	-	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)		213			Asparagine synthetase.		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Silent	SNP	ENST00000394309.3	37	c.639C>T	CCDS5652.1																																																																																				0.433	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	NM_001673, NM_183356		3	71	0	0	0	1	0	3	71					A	97488559	G	A	97488559	2	1	127	1	0	0	0	0	0	0	0	1	1048	1136	40	1		1	ASNS	7	97488559	Silent	SNP	G	TCGA-DJ-A3UV-01A-11D-A22D-08		97488559	61650104	5	2727											
HR	55806	broad.mit.edu	37	chr8	21984718	21984718	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacctcggggctgcctgcccTtttgagggcccggagccgag	16	14	0	1			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr8:21984718T>C	ENST00000381418.4	-	3	2717	c.1237A>G	c.(1237-1239)Agg>Ggg	p.R413G	HR_ENST00000312841.8_Missense_Mutation_p.R413G	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	413					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CTGCCTGCCCTTTTGAGGGCC	0.662																																						ENST00000381418.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27						c.(1237-1239)Agg>Ggg		hair growth associated							50	61	57					8																	21984718		2202	4297	6499	SO:0001583	missense	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21984718T>C	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"hairless (mouse) homolog", "hairless homolog (mouse)"	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.1237A>G	8.37:g.21984718T>C	ENSP00000370826:p.Arg413Gly					HR_ENST00000312841.8_Missense_Mutation_p.R413G	p.R413G	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	3	2717	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	413					Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	ENST00000381418.4	37	c.1237A>G	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.594958	0.86953	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.77489	-1.08;-1.1	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000004	T	0.82079	0.4959	L	0.36672	1.1	0.36583	D	0.873645	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	D	0.84946	0.0868	10	0.45353	T	0.12	-30.7293	12.6189	0.56592	0.0:0.0:0.0:1.0	.	413;413	O43593-2;O43593	.;HAIR_HUMAN	G	413	ENSP00000370826:R413G;ENSP00000326765:R413G	ENSP00000326765:R413G	R	-	1	2	HR	22040663	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	1.474000	0.35398	2.234000	0.73211	0.460000	0.39030	AGG		0.662	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			3	101	0	0	0	1	0	3	101					C	21984718	T	C	21984718	3	2	127	1	0	0	0	0	1	0	0	0	7347	1608	56	3	2400	3	HR	8	21984718	Missense_Mutation	SNP	T	TCGA-DJ-A3UV-01A-11D-A22D-08		21984718	124379304	6	2728											
SLC45A4	57210	broad.mit.edu	37	chr8	142231689	142231689	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacttaccgatggcagagccGttaaggaaaagtgcaacgcc	11	10	0	1	rs202071438		TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr8:142231689G>A	ENST00000024061.3	-	2	571	c.264C>T	c.(262-264)aaC>aaT	p.N88N	SLC45A4_ENST00000517878.1_Silent_p.N139N|SLC45A4_ENST00000519067.1_Silent_p.N88N|SLC45A4_ENST00000433583.2_Silent_p.N81N	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TGGCAGAGCCGTTAAGGAAAA	0.612													G|||	1	0.000199681	0	0	5008	,	,		19310	0		0.001	False		,,,				2504	0					ENST00000519067.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(262-264)aaC>aaT		solute carrier family 45, member 4							62	69	67					8																	142231689		2203	4300	6503	SO:0001819	synonymous_variant	57210				transport	integral to membrane		g.chr8:142231689G>A	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"Solute carriers"	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.264C>T	8.37:g.142231689G>A						SLC45A4_ENST00000517878.1_Silent_p.N139N|SLC45A4_ENST00000024061.3_Silent_p.N88N|SLC45A4_ENST00000433583.2_Silent_p.N81N	p.N88N			Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		2	567	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		139					Q6ZRI2|Q9ULU3	Silent	SNP	ENST00000024061.3	37	c.264C>T	CCDS34948.1																																																																																				0.612	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		3	44	0	0	0	1	0	3	44					A	142231689	G	A	142231689	2	1	127	1	0	0	0	0	0	0	0	1	14643	1136	40	1		1	SLC45A4	8	142231689	Silent	SNP	G	TCGA-DJ-A3UV-01A-11D-A22D-08	120246971	142231689	4132333	7	2729											
CSGALNACT2	55454	broad.mit.edu	37	chr10	43654238	43654238	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcagaccttacggaatataGacatgtgaccctcttccgcc	8	13	1	3			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr10:43654238G>A	ENST00000374466.3	+	3	1072	c.737G>A	c.(736-738)aGa>aAa	p.R246K	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.R246K	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	246					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACGGAATATAGACATGTGACC	0.393																																						ENST00000374466.3																			0				endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(736-738)aGa>aAa		chondroitin sulfate N-acetylgalactosaminyltransferase 2							105	101	102					10																	43654238		2203	4300	6503	SO:0001583	missense	55454				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr10:43654238G>A	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"Beta 4-glycosyltransferases"	24292	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.737G>A	10.37:g.43654238G>A	ENSP00000363590:p.Arg246Lys					CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.R246K	p.R246K	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN			3	1072	+			246					B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	ENST00000374466.3	37	c.737G>A	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.216650	0.58452	.	.	ENSG00000169826	ENST00000374466;ENST00000374464	T;T	0.18338	2.22;2.22	5.57	5.57	0.84162	.	0.043429	0.85682	D	0.000000	T	0.19366	0.0465	L	0.48260	1.515	0.51012	D	0.999903	P;P	0.38280	0.625;0.571	B;B	0.43301	0.415;0.359	T	0.02713	-1.1120	10	0.15952	T	0.53	-17.2526	12.8276	0.57728	0.0746:0.0:0.9254:0.0	.	246;246	Q8N6G5;Q8N6G5-2	CGAT2_HUMAN;.	K	246	ENSP00000363590:R246K;ENSP00000363588:R246K	ENSP00000363588:R246K	R	+	2	0	CSGALNACT2	42974244	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.421000	0.73353	2.622000	0.88805	0.591000	0.81541	AGA		0.393	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		19	75	0	0	0	1	0	19	75					A	43654238	G	A	43654238	3	1	127	1	0	0	0	0	1	0	0	0	3939	942	33	2	743	2	CSGALNACT2	10	43654238	Missense_Mutation	SNP	G	TCGA-DJ-A3UV-01A-11D-A22D-08		43654238	91880509	8	2730											
HHEX	3087	broad.mit.edu	37	chr10	94452181	94452181	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctgcataaaaggaaaggcGgccaggtgagattctccaac	11	10	2	1			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr10:94452181G>T	ENST00000282728.5	+	2	2217	c.418G>T	c.(418-420)Ggc>Tgc	p.G140C	HHEX_ENST00000472590.2_5'UTR|HHEX_ENST00000492654.2_5'UTR	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	140					anterior/posterior pattern specification (GO:0009952)|B cell differentiation (GO:0030183)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|DNA conformation change (GO:0071103)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|forebrain morphogenesis (GO:0048853)|gall bladder development (GO:0061010)|hepatic duct development (GO:0061011)|hepatoblast differentiation (GO:0061017)|hepatocyte differentiation (GO:0070365)|in utero embryonic development (GO:0001701)|interkinetic nuclear migration (GO:0022027)|mRNA export from nucleus (GO:0006406)|multicellular organism growth (GO:0035264)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|pancreas development (GO:0031016)|poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|primary lung bud formation (GO:0060431)|primitive streak formation (GO:0090009)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|eukaryotic initiation factor 4E binding (GO:0008190)|protein homodimerization activity (GO:0042803)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						AAGGAAAGGCGGCCAGGTGAG	0.587																																						ENST00000282728.5																			0				kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						c.(418-420)Ggc>Tgc		hematopoietically expressed homeobox							51	58	56					10																	94452181		2203	4300	6503	SO:0001583	missense	3087				anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding	g.chr10:94452181G>T	Z21533	CCDS7423.1	10q23.33	2011-06-20	2007-02-15		ENSG00000152804	ENSG00000152804		"Homeoboxes / ANTP class : NKL subclass"	4901	protein-coding gene	gene with protein product		604420		PRHX		8096636, 8103988	Standard	NM_002729		Approved	HEX, HOX11L-PEN	uc001kid.3	Q03014	OTTHUMG00000018762	ENST00000282728.5:c.418G>T	10.37:g.94452181G>T	ENSP00000282728:p.Gly140Cys					HHEX_ENST00000472590.2_5'UTR|HHEX_ENST00000492654.2_5'UTR	p.G140C	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN			2	2217	+			140					B1AQ17|Q96CE9	Missense_Mutation	SNP	ENST00000282728.5	37	c.418G>T	CCDS7423.1	.	.	.	.	.	.	.	.	.	.	G	36	5.816340	0.96982	.	.	ENSG00000152804	ENST00000282728	D	0.95724	-3.79	5.58	5.58	0.84498	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.051666	0.85682	D	0.000000	D	0.97133	0.9063	L	0.54908	1.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97462	1.0035	10	0.66056	D	0.02	-6.0948	19.563	0.95380	0.0:0.0:1.0:0.0	.	140	Q03014	HHEX_HUMAN	C	140	ENSP00000282728:G140C	ENSP00000282728:G140C	G	+	1	0	HHEX	94442161	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.129000	0.94430	2.630000	0.89119	0.561000	0.74099	GGC		0.587	HHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049402.2			20	59	1	0	1.96895e-08	1	2.13771e-08	20	59					T	94452181	G	T	94452181	3	4	127	1	0	0	0	0	1	0	0	0	7091	1116	39	4	424	4	HHEX	10	94452181	Missense_Mutation	SNP	G	TCGA-DJ-A3UV-01A-11D-A22D-08	50797943	94452181	41082566	9	2731											
HPS1	3257	broad.mit.edu	37	chr10	100189379	100189379	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtgtgaagtactcctcaggGagggagaagctgtctgtctc	15	8	3	2			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr10:100189379G>A	ENST00000325103.6	-	10	1121	c.888C>T	c.(886-888)ctC>ctT	p.L296L	HPS1_ENST00000361490.4_Silent_p.L296L|HPS1_ENST00000338546.5_Silent_p.L296L|HPS1_ENST00000467246.1_5'UTR|MIR4685_ENST00000578185.1_RNA	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	296					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		ACTCCTCAGGGAGGGAGAAGC	0.597									Hermansky-Pudlak syndrome																													ENST00000325103.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(886-888)ctC>ctT		Hermansky-Pudlak syndrome 1							80	83	82					10																	100189379		2203	4300	6503	SO:0001819	synonymous_variant	3257	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity	g.chr10:100189379G>A	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"Hermansky-Pudlak syndrome"	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.888C>T	10.37:g.100189379G>A						HPS1_ENST00000338546.5_Silent_p.L296L|HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Silent_p.L296L	p.L296L	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)	10	1121	-		Colorectal(252;0.234)	296					A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Silent	SNP	ENST00000325103.6	37	c.888C>T	CCDS7475.1	.	.	.	.	.	.	.	.	.	.	G	8.965	0.971608	0.18736	.	.	ENSG00000107521	ENST00000414009	.	.	.	5.28	1.06	0.20224	.	.	.	.	.	T	0.39655	0.1086	.	.	.	0.25225	N	0.989879	.	.	.	.	.	.	T	0.31613	-0.9937	4	.	.	.	.	12.8627	0.57922	0.0819:0.6824:0.2357:0.0	.	.	.	.	S	131	.	.	P	-	1	0	HPS1	100179369	0.080000	0.21391	0.989000	0.46669	0.986000	0.74619	-0.333000	0.07894	0.212000	0.20703	-0.311000	0.09066	CCC		0.597	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	NM_000195, NM_182637, NM_182638, NM_182639		12	45	0	0	0	1	0	12	45					A	100189379	G	A	100189379	2	1	127	1	0	0	0	0	0	0	0	1	7339	1161	41	2		2	HPS1	10	100189379	Silent	SNP	G	TCGA-DJ-A3UV-01A-11D-A22D-08	5737198	100189379	35345368	10	2732											
HPS1	3257	broad.mit.edu	37	chr10	100189563	100189563	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacaccgtctctgcagagctCcccccagttgggcccgtgga	11	17	1	1			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr10:100189563C>T	ENST00000325103.6	-	9	1085	c.852G>A	c.(850-852)ggG>ggA	p.G284G	HPS1_ENST00000361490.4_Silent_p.G284G|HPS1_ENST00000338546.5_Silent_p.G284G|HPS1_ENST00000467246.1_Intron|MIR4685_ENST00000578185.1_RNA	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	284					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CTGCAGAGCTCCCCCCAGTTG	0.692									Hermansky-Pudlak syndrome																													ENST00000325103.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(850-852)ggG>ggA		Hermansky-Pudlak syndrome 1							81	86	84					10																	100189563		2203	4300	6503	SO:0001819	synonymous_variant	3257	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity	g.chr10:100189563C>T	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"Hermansky-Pudlak syndrome"	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.852G>A	10.37:g.100189563C>T						HPS1_ENST00000338546.5_Silent_p.G284G|HPS1_ENST00000467246.1_Intron|HPS1_ENST00000361490.4_Silent_p.G284G	p.G284G	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)	9	1085	-		Colorectal(252;0.234)	284					A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Silent	SNP	ENST00000325103.6	37	c.852G>A	CCDS7475.1																																																																																				0.692	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	NM_000195, NM_182637, NM_182638, NM_182639		38	192	0	0	0	1	0	38	192					T	100189563	C	T	100189563	2	4	127	1	0	0	0	0	0	0	0	1	7339	842	30	2		2	HPS1	10	100189563	Silent	SNP	C	TCGA-DJ-A3UV-01A-11D-A22D-08	184	100189563	35345184	11	2733											
C10orf90	118611	broad.mit.edu	37	chr10	128193324	128193324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccagggcgcgggctggggGgcccacgcgtctggccgtga	19	14	1	1			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr10:128193324G>A	ENST00000284694.7	-	3	565	c.445C>T	c.(445-447)Ccc>Tcc	p.P149S	C10orf90_ENST00000454341.1_Missense_Mutation_p.P149S|C10orf90_ENST00000544758.1_Missense_Mutation_p.P246S|C10orf90_ENST00000392694.1_Missense_Mutation_p.P102S|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000356858.3_Missense_Mutation_p.P102S	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	149	Required for interaction with HDAC1. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CGGGCTGGGGGGCCCACGCGT	0.697											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000284694.7																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(445-447)Ccc>Tcc		chromosome 10 open reading frame 90							24	30	28					10																	128193324		2179	4269	6448	SO:0001583	missense	118611							g.chr10:128193324G>A	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"fragile-site associated tumor suppressor"					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.445C>T	10.37:g.128193324G>A	ENSP00000284694:p.Pro149Ser		OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1563	C10orf90_ENST00000392694.1_Missense_Mutation_p.P102S|C10orf90_ENST00000356858.3_Missense_Mutation_p.P102S|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000454341.1_Missense_Mutation_p.P149S|C10orf90_ENST00000544758.1_Missense_Mutation_p.P246S	p.P149S	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	3	565	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)	149					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	c.445C>T	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.314522	0.60524	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	T;T;T;T;T	0.33865	1.65;1.63;1.73;1.67;1.39	5.1	3.25	0.37280	.	0.238222	0.30302	N	0.009934	T	0.46405	0.1391	L	0.58101	1.795	0.09310	N	1	P;P;D;P;B	0.64830	0.876;0.947;0.994;0.947;0.421	P;P;P;P;B	0.60886	0.634;0.634;0.88;0.634;0.176	T	0.30268	-0.9984	10	0.66056	D	0.02	-10.2375	5.8324	0.18588	0.1712:0.0:0.6703:0.1585	.	246;246;102;149;149	F5GZL2;B4DMQ6;Q5T024;Q96M02;Q96M02-2	.;.;.;CJ090_HUMAN;.	S	102;149;149;246;149;102;102	ENSP00000284694:P149S;ENSP00000398786:P149S;ENSP00000444369:P246S;ENSP00000405995:P149S;ENSP00000376459:P102S	ENSP00000284694:P149S	P	-	1	0	C10orf90	128183314	0.952000	0.32445	0.004000	0.12327	0.214000	0.24535	1.825000	0.39081	0.735000	0.32537	-0.152000	0.13540	CCC		0.697	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		3	70	0	0	0	1	0	3	70					A	128193324	G	A	128193324	3	1	127	1	0	0	0	0	1	0	0	0	1623	1232	43	2	1682	2	C10orf90	10	128193324	Missense_Mutation	SNP	G	TCGA-DJ-A3UV-01A-11D-A22D-08	28003761	128193324	7341423	12	2734											
GCN1L1	10985	broad.mit.edu	37	chr12	120568522	120568522	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atgtggtgtctcatgagaaaGcccatgccccggaccccgct	11	14	1	1			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr12:120568522G>C	ENST00000300648.6	-	56	7611	c.7599C>G	c.(7597-7599)ggC>ggG	p.G2533G		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2533					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCATGAGAAAGCCCATGCCCC	0.612																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(7597-7599)ggC>ggG		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							57	60	59					12																	120568522		1956	4133	6089	SO:0001819	synonymous_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120568522G>C	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.7599C>G	12.37:g.120568522G>C							p.G2533G	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			56	7611	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		2533					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	c.7599C>G	CCDS41847.1																																																																																				0.612	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			23	95	0	0	0	1	0	23	95					C	120568522	G	C	120568522	2	2	127	1	0	0	0	0	0	0	0	1	6299	958	34	4		4	GCN1L1	12	120568522	Silent	SNP	G	TCGA-DJ-A3UV-01A-11D-A22D-08		120568522	13283373	13	2735											
SIPA1L1	26037	broad.mit.edu	37	chr14	72055315	72055315	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaggtccaactccaaccaaGctcagtgactttctcattac	6	14	2	1	rs372866055		TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr14:72055315G>A	ENST00000555818.1	+	2	1074	c.726G>A	c.(724-726)aaG>aaA	p.K242K	SIPA1L1_ENST00000358550.2_Silent_p.K242K|SIPA1L1_ENST00000381232.3_Silent_p.K242K	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	242					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CTCCAACCAAGCTCAGTGACT	0.423																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(724-726)aaG>aaA		signal-induced proliferation-associated 1 like 1		G		0,4406		0,0,2203	93	83	87		726	4.0	1.0	14		87	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SIPA1L1	NM_015556.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		242/1805	72055315	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72055315G>A	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.726G>A	14.37:g.72055315G>A						SIPA1L1_ENST00000381232.3_Silent_p.K242K|SIPA1L1_ENST00000358550.2_Silent_p.K242K	p.K242K	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	2	1074	+			242					J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	ENST00000555818.1	37	c.726G>A	CCDS9807.1																																																																																				0.423	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		6	60	0	0	0	1	0	6	60					A	72055315	G	A	72055315	2	1	127	1	0	0	0	0	0	0	0	1	14329	962	34	2		2	SIPA1L1	14	72055315	Silent	SNP	G	TCGA-DJ-A3UV-01A-11D-A22D-08		72055315	35294225	14	2736											
NRXN3	9369	broad.mit.edu	37	chr14	79746819	79746819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagcaccatttccatggcaGcaagcatcactcagtgccta	8	14	2	0			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr14:79746819G>A	ENST00000557594.1	+	1	1138	c.185G>A	c.(184-186)aGc>aAc	p.S62N	NRXN3_ENST00000554719.1_Intron|NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000281127.7_Missense_Mutation_p.S62N|NRXN3_ENST00000428277.2_Missense_Mutation_p.S62N	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	62					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TTCCATGGCAGCAAGCATCAC	0.507																																						ENST00000281127.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(184-186)aGc>aAc		neurexin 3							221	188	199					14																	79746819		2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79746819G>A	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.185G>A	14.37:g.79746819G>A	ENSP00000451672:p.Ser62Asn					NRXN3_ENST00000554719.1_Intron|NRXN3_ENST00000557594.1_Missense_Mutation_p.S62N|NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000428277.2_Missense_Mutation_p.S62N	p.S62N	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	1	1064	+		Renal(4;0.00876)	62					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000557594.1	37	c.185G>A		.	.	.	.	.	.	.	.	.	.	G	19.73	3.882610	0.72410	.	.	ENSG00000021645	ENST00000557594;ENST00000281127;ENST00000428277	T;T;T	0.35605	1.43;1.51;1.3	5.8	5.8	0.92144	.	.	.	.	.	T	0.23572	0.0570	N	0.19112	0.55	0.80722	D	1	P;P;P	0.40476	0.718;0.718;0.596	B;B;B	0.32211	0.142;0.142;0.067	T	0.03566	-1.1024	8	.	.	.	.	18.235	0.89947	0.0:0.0:1.0:0.0	.	62;62;62	Q9HDB5-4;Q9HDB5-2;Q9HDB5	.;.;NRX3B_HUMAN	N	62	ENSP00000451672:S62N;ENSP00000281127:S62N;ENSP00000394426:S62N	.	S	+	2	0	NRXN3	78816572	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.287000	0.59001	2.748000	0.94277	0.655000	0.94253	AGC		0.507	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		4	181	0	0	0	1	0	4	181					A	79746819	G	A	79746819	3	1	127	1	0	0	0	0	1	0	0	0	10667	971	34	2	2370	2	NRXN3	14	79746819	Missense_Mutation	SNP	G	TCGA-DJ-A3UV-01A-11D-A22D-08	7691504	79746819	27602721	15	2737											
NLRC5	84166	broad.mit.edu	37	chr16	57115523	57115523	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctagcatccaagtcatccgGtaacagaggcctgcaggggc	12	12	2	1			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr16:57115523G>A	ENST00000262510.6	+	48	5714		c.e48+1		NLRC5_ENST00000308149.7_Splice_Site|NLRC5_ENST00000436936.1_Splice_Site|NLRC5_ENST00000539144.1_Splice_Site	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5						defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AAGTCATCCGGTAACAGAGGC	0.627																																						ENST00000436936.1																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.e48+1		NLR family, CARD domain containing 5							82	86	84					16																	57115523		2198	4300	6498	SO:0001630	splice_region_variant	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57115523G>A	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.5489+1G>A	16.37:g.57115523G>A						NLRC5_ENST00000308149.7_Splice_Site|NLRC5_ENST00000262510.6_Splice_Site|NLRC5_ENST00000539144.1_Splice_Site				Q86WI3	NLRC5_HUMAN			48	5778	+		all_neural(199;0.225)						B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Splice_Site	SNP	ENST00000262510.6	37		CCDS10773.1	.	.	.	.	.	.	.	.	.	.	g	17.09	3.300509	0.60195	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000539144	.	.	.	4.45	4.45	0.53987	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.921	0.58232	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NLRC5	55673024	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.300000	0.59079	2.171000	0.68590	0.561000	0.74099	.		0.627	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206	Intron	4	132	0	0	0	1	0	4	132					A	57115523	G	A	57115523	5	1	127	1	0	0	0	0	0	0	1	0	10470	1275	44	2	5672	2	NLRC5	16	57115523	Splice_Site	SNP	G	TCGA-DJ-A3UV-01A-11D-A22D-08		57115523	33239230	16	2738											
CX3CL1	6376	broad.mit.edu	37	chr16	57416149	57416149	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggagcccgaagccacaggCgaaagcagtagcctggagcc	14	13	0	0	rs373115385		TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr16:57416149C>T	ENST00000006053.6	+	3	510	c.399C>T	c.(397-399)ggC>ggT	p.G133G	CX3CL1_ENST00000563383.1_Silent_p.G139G|CX3CL1_ENST00000565912.1_Silent_p.G95G|CX3CL1_ENST00000564948.1_3'UTR	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	133	Mucin-like stalk.				angiogenesis involved in wound healing (GO:0060055)|cell adhesion (GO:0007155)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|immune response (GO:0006955)|leukocyte adhesive activation (GO:0050902)|leukocyte chemotaxis (GO:0030595)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcium-independent cell-cell adhesion (GO:0051041)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transforming growth factor beta1 production (GO:0032914)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AAGCCACAGGCGAAAGCAGTA	0.667													C|||	1	0.000199681	0	0	5008	,	,		16086	0		0	False		,,,				2504	0.001					ENST00000565912.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(283-285)ggC>ggT		chemokine (C-X3-C motif) ligand 1		C		0,4356		0,0,2178	28	32	30		399	-4.3	0.0	16		30	1,8545		0,1,4272	no	coding-synonymous	CX3CL1	NM_002996.3		0,1,6450	TT,TC,CC		0.0117,0.0,0.0078		133/398	57416149	1,12901	2178	4273	6451	SO:0001819	synonymous_variant	6376				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity	g.chr16:57416149C>T	U84487	CCDS10779.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000006210	ENSG00000006210		"Endogenous ligands"	10647	protein-coding gene	gene with protein product		601880	"small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)"	SCYD1		9177350, 9024663	Standard	NM_002996		Approved	NTN, C3Xkine, ABCD-3, CXC3C, CXC3, fractalkine, neurotactin	uc002eli.3	P78423	OTTHUMG00000133469	ENST00000006053.6:c.399C>T	16.37:g.57416149C>T						CX3CL1_ENST00000006053.6_Silent_p.G133G|CX3CL1_ENST00000564948.1_3'UTR|CX3CL1_ENST00000563383.1_Silent_p.G139G	p.G95G			P78423	X3CL1_HUMAN			2	2991	+			133			Chemokine.		O00672	Silent	SNP	ENST00000006053.6	37	c.285C>T	CCDS10779.1																																																																																				0.667	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257345.3	NM_002996		14	37	0	0	0	1	0	14	37					T	57416149	C	T	57416149	2	4	127	1	0	0	0	0	0	0	0	1	4074	755	27	1		1	CX3CL1	16	57416149	Silent	SNP	C	TCGA-DJ-A3UV-01A-11D-A22D-08	300626	57416149	32938604	17	2739											
ZNF878	729747	broad.mit.edu	37	chr19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacgaacagaactgggaaaActgaatgctttcccacactg	8	11	0	2			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr19:12155673A>C	ENST00000547628.1	-	4	680	c.543T>G	c.(541-543)agT>agG	p.S181R	CTD-2006C1.2_ENST00000591838.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.S228R|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAAACTGAATGCTT	0.403																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(682-684)agT>agG		zinc finger protein 878							189	199	196					19																	12155673		2112	4260	6372	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155673A>C		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"Zinc fingers, C2H2-type", "-"	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.543T>G	19.37:g.12155673A>C	ENSP00000447931:p.Ser181Arg					ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron	p.S228R			C9JN71	ZN878_HUMAN			5	683	-			181						Missense_Mutation	SNP	ENST00000547628.1	37	c.684T>G	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	a	0	-2.730166	0.00089	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.07216	3.21	1.24	-2.47	0.06442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03871	0.0109	N	0.12831	0.26	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.39231	-0.9624	9	0.21540	T	0.41	.	5.2308	0.15420	0.5561:0.2971:0.0:0.1468	.	181	C9JN71	ZN878_HUMAN	R	181;228	ENSP00000447931:S181R	ENSP00000447931:S181R	S	-	3	2	AC022415.4;ZNF878	12016673	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.404000	0.07205	-2.785000	0.00359	-2.885000	0.00097	AGT		0.403	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		6	261	0	0	0	1	0	6	261					C	12155673	A	C	12155673	3	2	127	1	0	0	0	0	1	0	0	0	18193	40	2	5	1056	5	ZNF878	19	12155673	Missense_Mutation	SNP	A	TCGA-DJ-A3UV-01A-11D-A22D-08		12155673	46973310	18	2740											
RYR1	6261	broad.mit.edu	37	chr19	38976750	38976750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggatgctgggggaggcgGtgcgcgacggtgggcagcac	22	8	0	1			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr19:38976750G>A	ENST00000359596.3	+	34	5455	c.5455G>A	c.(5455-5457)Gtg>Atg	p.V1819M	RYR1_ENST00000355481.4_Missense_Mutation_p.V1819M|RYR1_ENST00000360985.3_Missense_Mutation_p.V1819M			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1819	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGGGGAGGCGGTGCGCGACGG	0.706																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(5455-5457)Gtg>Atg		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						57	55	56					19																	38976750		2201	4293	6494	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38976750G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5455G>A	19.37:g.38976750G>A	ENSP00000352608:p.Val1819Met					RYR1_ENST00000359596.3_Missense_Mutation_p.V1819M|RYR1_ENST00000360985.3_Missense_Mutation_p.V1819M	p.V1819M	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		34	5586	+	all_cancers(60;7.91e-06)		1819			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.5455G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362717	0.61403	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.75050	-0.9;-0.9;-0.9	3.7	3.7	0.42460	.	0.000000	0.56097	U	0.000025	D	0.84933	0.5582	M	0.73962	2.25	0.48830	D	0.999717	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.995	D	0.86575	0.1850	10	0.52906	T	0.07	.	15.2171	0.73277	0.0:0.0:1.0:0.0	.	1819;1819	P21817-2;P21817	.;RYR1_HUMAN	M	1819	ENSP00000352608:V1819M;ENSP00000347667:V1819M;ENSP00000354254:V1819M	ENSP00000347667:V1819M	V	+	1	0	RYR1	43668590	1.000000	0.71417	0.961000	0.40146	0.880000	0.50808	9.556000	0.98127	1.886000	0.54624	0.585000	0.79938	GTG		0.706	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			3	116	0	0	0	1	0	3	116					A	38976750	G	A	38976750	3	1	127	1	0	0	0	0	1	0	0	0	13768	1261	44	2	5589	2	RYR1	19	38976750	Missense_Mutation	SNP	G	TCGA-DJ-A3UV-01A-11D-A22D-08	26821077	38976750	20152233	19	2741											
SLC6A16	28968	broad.mit.edu	37	chr19	49797224	49797224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaagaccagaagacagacGgaggaaggaaggacatggct	14	6	0	4			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr19:49797224G>A	ENST00000335875.4	-	9	1719	c.1478C>T	c.(1477-1479)cCg>cTg	p.P493L	SLC6A16_ENST00000454748.3_Missense_Mutation_p.P493L	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	493					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		GAAGACAGACGGAGGAAGGAA	0.493																																						ENST00000454748.3																			0				NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1477-1479)cCg>cTg		solute carrier family 6, member 16							143	148	146					19																	49797224		2016	4184	6200	SO:0001583	missense	28968					integral to membrane|intracellular	neurotransmitter:sodium symporter activity	g.chr19:49797224G>A	AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"Solute carriers"	13622	protein-coding gene	gene with protein product	"NTT5 protein"	607972	"solute carrier family 6 (neurotransmitter transporter), member 16"			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.1478C>T	19.37:g.49797224G>A	ENSP00000338627:p.Pro493Leu					SLC6A16_ENST00000335875.4_Missense_Mutation_p.P493L	p.P493L			Q9GZN6	S6A16_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)	9	1679	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	493					Q8IYV4|Q9Y5I9	Missense_Mutation	SNP	ENST00000335875.4	37	c.1478C>T	CCDS42590.1	.	.	.	.	.	.	.	.	.	.	G	8.514	0.867157	0.17250	.	.	ENSG00000063127	ENST00000335875;ENST00000454748	T;T	0.71934	-0.61;-0.61	4.29	-0.769	0.11009	.	0.574709	0.17786	N	0.162051	T	0.31979	0.0814	N	0.00566	-1.37	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37641	-0.9697	10	0.34782	T	0.22	.	7.7251	0.28755	0.4022:0.3395:0.2582:0.0	.	493;493	Q8IYV4;Q9GZN6	.;S6A16_HUMAN	L	493	ENSP00000338627:P493L;ENSP00000404022:P493L	ENSP00000338627:P493L	P	-	2	0	SLC6A16	54489036	0.105000	0.21958	0.000000	0.03702	0.000000	0.00434	1.625000	0.37029	0.017000	0.15025	-1.355000	0.01225	CCG		0.493	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037		3	138	0	0	0	1	0	3	138					A	49797224	G	A	49797224	3	1	127	1	0	0	0	0	1	0	0	0	14679	1116	39	1	748	1	SLC6A16	19	49797224	Missense_Mutation	SNP	G	TCGA-DJ-A3UV-01A-11D-A22D-08	10820474	49797224	9331759	20	2742											
ZNF185	7739	broad.mit.edu	37	chrX	152087570	152087572	+	In_Frame_Del	DEL	GAG	GAG	-													gctctacatcaggggacaccGaggaggaggaggaggaggag							TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chrX:152087570_152087572delGAG	ENST00000370268.4	+	7	512_514	c.475_477delGAG	c.(475-477)gagdel	p.E165del	ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000535861.1_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000370270.2_In_Frame_Del_p.E165del			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	165	Poly-Glu.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGACACCgaggaggaggagg	0.596																																						ENST00000535861.1																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12						c.(475-477)del		zinc finger protein 185 (LIM domain)			,,,,,,	160,3115		6,91,57,1273,478					,,,,,,	-7.0	0.0			54	367,5848		0,178,189,2088,1494	no	coding,coding,coding,coding,coding,coding,coding	ZNF185	NM_007150.3,NM_001178113.1,NM_001178110.1,NM_001178109.1,NM_001178108.1,NM_001178107.1,NM_001178106.1	,,,,,,	6,269,246,3361,1972	A1A1,A1R,A1,RR,R		5.9051,4.8855,5.5532	,,,,,,	,,,,,,		527,8963				SO:0001651	inframe_deletion	7739					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding	g.chrX:152087570_152087572delGAG	AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"Zinc fingers, C2H2-type"	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.475_477delGAG	X.37:g.152087579_152087581delGAG	ENSP00000359291:p.Glu165del					ZNF185_ENST00000370270.1_In_Frame_Del_p.E25del|ZNF185_ENST00000370268.4_In_Frame_Del_p.E165del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del	p.E165del	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN			7	523_525	+	Acute lymphoblastic leukemia(192;6.56e-05)		165			Poly-Glu.		A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	In_Frame_Del	DEL	ENST00000370268.4	37	c.475_477delGAG	CCDS48184.1																																																																																				0.596	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150		9	52						9	52	---	---	---	---	-	152087572	GAG	-	152087570	7	5	127	1	0	1	0	1	0	0	0	0	17749	1059	37	0	516	0	ZNF185	23	152087570	In_Frame_Del	DEL	GAG	TCGA-DJ-A3UV-01A-11D-A22D-08		152087570	3182990	21	2743											
SLC6A9	6536	broad.mit.edu	37	chr1	44482733	44482733	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgacctgttctggggaagAgggggccacaggtccatgag	16	9	1	3			TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr1:44482733A>G	ENST00000360584.2	-	1	264	c.73T>C	c.(73-75)Tct>Cct	p.S25P	SLC6A9_ENST00000492434.2_Intron|SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000372307.3_5'Flank|SLC6A9_ENST00000537678.1_Intron|SLC6A9_ENST00000357730.2_Missense_Mutation_p.S25P|SLC6A9_ENST00000372310.3_Intron|SLC6A9_ENST00000475075.2_Intron	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	25					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	TCTGGGGAAGAGGGGGCCACA	0.672																																						ENST00000360584.2																			0				endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22						c.(73-75)Tct>Cct		solute carrier family 6 (neurotransmitter transporter, glycine), member 9	Glycine(DB00145)						28	34	32					1																	44482733		2123	4222	6345	SO:0001583	missense	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44482733A>G	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"Solute carriers"	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.73T>C	1.37:g.44482733A>G	ENSP00000353791:p.Ser25Pro					SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000492434.2_Intron|SLC6A9_ENST00000357730.2_Missense_Mutation_p.S25P|SLC6A9_ENST00000372310.3_Intron|SLC6A9_ENST00000537678.1_Intron|SLC6A9_ENST00000475075.2_Intron	p.S25P	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN			1	264	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	25					A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Missense_Mutation	SNP	ENST00000360584.2	37	c.73T>C	CCDS41317.1	.	.	.	.	.	.	.	.	.	.	A	9.467	1.094615	0.20471	.	.	ENSG00000196517	ENST00000360584;ENST00000357730;ENST00000528803	T;T;T	0.74315	-0.83;-0.81;-0.71	5.09	1.27	0.21489	.	126.916000	0.00166	N	0.000000	T	0.54240	0.1846	N	0.08118	0	0.80722	D	1	B;B;B	0.28512	0.214;0.0;0.0	B;B;B	0.26517	0.07;0.0;0.0	T	0.48080	-0.9066	10	0.30854	T	0.27	.	4.0554	0.09814	0.6297:0.1798:0.1905:0.0	.	25;25;25	B7Z3W8;P48067-3;P48067	.;.;SC6A9_HUMAN	P	25	ENSP00000353791:S25P;ENSP00000350362:S25P;ENSP00000435652:S25P	ENSP00000350362:S25P	S	-	1	0	SLC6A9	44255320	0.975000	0.34042	0.997000	0.53966	0.634000	0.38068	0.053000	0.14184	0.296000	0.22592	0.454000	0.30748	TCT		0.672	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2	NM_201649		3	51	0	0	0	1	0	3	51					G	44482733	A	G	44482733	3	3	128	1	0	0	0	0	1	0	0	0	14691	304	11	3	2103	3	SLC6A9	1	44482733	Missense_Mutation	SNP	A	TCGA-DJ-A3UW-01A-11D-A22D-08		44482733	204767888	1	2744											
PDE4DIP	9659	broad.mit.edu	37	chr1	144879561	144879561	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggctgttgtgctcctcacActctgaaaaaagacaaagat	9	9	2	3			TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr1:144879561A>G	ENST00000369354.3	-	27	4078	c.3889T>C	c.(3889-3891)Tgt>Cgt	p.C1297R	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.C1433R|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.C1297R|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.C1253R|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.C1433R|AL138796.1_ENST00000582173.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1297					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.C1297R(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGCTCCTCACACTCTGAAAAA	0.502			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		2	Substitution - Missense(2)	p.C1297R(2)	lung(2)	NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(4297-4299)Tgt>Cgt		phosphodiesterase 4D interacting protein							46	49	48					1																	144879561		2203	4290	6493	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144879561A>G	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3889T>C	1.37:g.144879561A>G	ENSP00000358360:p.Cys1297Arg					PDE4DIP_ENST00000530740.1_Missense_Mutation_p.C1433R|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.C1297R|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.C1297R|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.C1253R	p.C1433R			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	30	4335	-			1297					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.4297T>C	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	A	16.19	3.052829	0.55218	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01665	4.7;4.79;4.79;4.8;4.8	5.79	5.79	0.91817	.	.	.	.	.	T	0.04048	0.0113	L	0.57536	1.79	0.80722	D	1	D;D	0.71674	0.998;0.96	D;B	0.67548	0.952;0.421	T	0.51568	-0.8689	9	0.44086	T	0.13	.	14.0875	0.64968	1.0:0.0:0.0:0.0	.	1253;1297	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	R	1253;1297;1297;1433;1433	ENSP00000327209:C1253R;ENSP00000358360:C1297R;ENSP00000358363:C1297R;ENSP00000435654:C1433R;ENSP00000358366:C1433R	ENSP00000327209:C1253R	C	-	1	0	PDE4DIP	143590918	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	5.716000	0.68437	2.207000	0.71202	0.533000	0.62120	TGT		0.502	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		3	60	0	0	0	1	0	3	60					G	144879561	A	G	144879561	3	3	128	1	0	0	0	0	1	0	0	0	11643	159	6	3	3223	3	PDE4DIP	1	144879561	Missense_Mutation	SNP	A	TCGA-DJ-A3UW-01A-11D-A22D-08	100396828	144879561	104371060	2	2745											
OR6K6	128371	broad.mit.edu	37	chr1	158725536	158725536	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttgttatccttgctcccTttttcaaccccatcatctat	2	14	3	0			TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr1:158725536T>C	ENST00000368144.2	+	1	1027	c.931T>C	c.(931-933)Ttt>Ctt	p.F311L		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CCTTGCTCCCTTTTTCAACCC	0.438																																						ENST00000368144.2																			0				endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(931-933)Ttt>Ctt		olfactory receptor, family 6, subfamily K, member 6							149	140	143					1																	158725536		2203	4300	6503	SO:0001583	missense	128371				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158725536T>C	BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"GPCR / Class A : Olfactory receptors"	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.931T>C	1.37:g.158725536T>C	ENSP00000357126:p.Phe311Leu						p.F311L	NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN			1	1027	+	all_hematologic(112;0.0378)		311					B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	ENST00000368144.2	37	c.931T>C	CCDS30904.1	.	.	.	.	.	.	.	.	.	.	T	7.953	0.745283	0.15710	.	.	ENSG00000180433	ENST00000368144	T	0.35789	1.29	5.33	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41500	D	0.000869	T	0.05914	0.0154	N	0.03281	-0.365	0.29167	N	0.877357	B	0.28667	0.219	B	0.27380	0.079	T	0.16070	-1.0415	10	0.40728	T	0.16	-17.7057	7.5224	0.27635	0.1408:0.0:0.147:0.7122	.	311	Q8NGW6	OR6K6_HUMAN	L	311	ENSP00000357126:F311L	ENSP00000357126:F311L	F	+	1	0	OR6K6	156992160	0.000000	0.05858	0.973000	0.42090	0.816000	0.46133	-1.108000	0.03313	1.043000	0.40175	-0.257000	0.10917	TTT		0.438	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2	NM_001005184		3	100	0	0	0	1	0	3	100					C	158725536	T	C	158725536	3	2	128	1	0	0	0	0	1	0	0	0	11204	1609	56	3	933	3	OR6K6	1	158725536	Missense_Mutation	SNP	T	TCGA-DJ-A3UW-01A-11D-A22D-08	13845975	158725536	90525085	3	2746											
RNPEPL1	57140	broad.mit.edu	37	chr2	241516021	241516021	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccggacctgtctcagggatCcagcctgacccggcccgtgg	14	16	1	1			TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr2:241516021C>T	ENST00000270357.4	+	9	1480	c.887C>T	c.(886-888)tCc>tTc	p.S296F	RNPEPL1_ENST00000464550.1_3'UTR	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	296					leukotriene biosynthetic process (GO:0019370)		aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		TCTCAGGGATCCAGCCTGACC	0.662																																						ENST00000270357.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13						c.(886-888)tCc>tTc		arginyl aminopeptidase (aminopeptidase B)-like 1							25	29	27					2																	241516021		2199	4289	6488	SO:0001583	missense	57140				leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr2:241516021C>T			2q37.3	2012-03-06			ENSG00000142327	ENSG00000142327			10079	protein-coding gene	gene with protein product		605287				19508204	Standard	NM_018226		Approved		uc002vzi.4	Q9HAU8	OTTHUMG00000133357	ENST00000270357.4:c.887C>T	2.37:g.241516021C>T	ENSP00000270357:p.Ser296Phe					RNPEPL1_ENST00000464550.1_3'UTR	p.S296F	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)	9	1480	+		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)	296					Q5XKC3|Q6NX56|Q96AC9|Q9H033|Q9NVD0	Missense_Mutation	SNP	ENST00000270357.4	37	c.887C>T		.	.	.	.	.	.	.	.	.	.	C	16.35	3.097929	0.56075	.	.	ENSG00000142327	ENST00000451363;ENST00000270357;ENST00000437406	T;T	0.46451	3.42;0.87	4.36	4.36	0.52297	Armadillo-type fold (1);	0.288241	0.34291	N	0.004082	T	0.47154	0.1430	L	0.40543	1.245	0.37161	D	0.902573	D;P	0.61080	0.989;0.731	P;B	0.53809	0.735;0.396	T	0.58691	-0.7592	10	0.72032	D	0.01	-29.6847	14.3682	0.66820	0.0:1.0:0.0:0.0	.	202;296	A4FTX9;Q9HAU8	.;RNPL1_HUMAN	F	74;296;49	ENSP00000270357:S296F;ENSP00000403319:S49F	ENSP00000270357:S296F	S	+	2	0	RNPEPL1	241164694	0.573000	0.26676	1.000000	0.80357	0.733000	0.41908	1.574000	0.36482	1.979000	0.57680	0.491000	0.48974	TCC		0.662	RNPEPL1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257190.4	NM_018226		9	41	0	0	0	1	0	9	41					T	241516021	C	T	241516021	3	4	128	1	0	0	0	0	1	0	0	0	13510	855	30	2	913	2	RNPEPL1	2	241516021	Missense_Mutation	SNP	C	TCGA-DJ-A3UW-01A-11D-A22D-08		241516021	1683352	4	2747											
HRH1	3269	broad.mit.edu	37	chr3	11301013	11301013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccaagtggtcactgggccGtcctctctgcctcttttggc	11	14	3	0	rs139664451	byFrequency	TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr3:11301013G>A	ENST00000397056.1	+	3	481	c.290G>A	c.(289-291)cGt>cAt	p.R97H	HRH1_ENST00000438284.2_Missense_Mutation_p.R97H|HRH1_ENST00000431010.2_Missense_Mutation_p.R97H	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	97					cellular response to histamine (GO:0071420)|eosinophil chemotaxis (GO:0048245)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|inositol phosphate-mediated signaling (GO:0048016)|memory (GO:0007613)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|regulation of vascular permeability (GO:0043114)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|histamine receptor activity (GO:0004969)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Alcaftadine(DB06766)|Alimemazine(DB01246)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Antazoline(DB08799)|Aripiprazole(DB01238)|Asenapine(DB06216)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzatropine(DB00245)|Bepotastine(DB04890)|Betahistine(DB06698)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlorcyclizine(DB08936)|Chloropyramine(DB08800)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clemastine(DB00283)|Clofedanol(DB04837)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Dimetindene(DB08801)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Escitalopram(DB01175)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Iloperidone(DB04946)|Imipramine(DB00458)|Isothipendyl(DB08802)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Loxapine(DB00408)|Maprotiline(DB00934)|Meclizine(DB00737)|Mepyramine(DB06691)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Paliperidone(DB01267)|Phenindamine(DB01619)|Pheniramine(DB01620)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	TCACTGGGCCGTCCTCTCTGC	0.552																																						ENST00000397056.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(289-291)cGt>cAt		histamine receptor H1	Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	195	182	186		290,290,290,290	2.2	0.6	3	dbSNP_134	186	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense	HRH1	NM_000861.3,NM_001098211.1,NM_001098212.1,NM_001098213.1	29,29,29,29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign,benign,benign	97/488,97/488,97/488,97/488	11301013	2,13004	2203	4300	6503	SO:0001583	missense	3269				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity	g.chr3:11301013G>A		CCDS2604.1	3p25	2012-11-12			ENSG00000196639	ENSG00000196639		"GPCR / Class A : Histamine receptors"	5182	protein-coding gene	gene with protein product		600167				8003029	Standard	NM_001098211		Approved		uc010hds.3	P35367	OTTHUMG00000129719	ENST00000397056.1:c.290G>A	3.37:g.11301013G>A	ENSP00000380247:p.Arg97His					HRH1_ENST00000438284.2_Missense_Mutation_p.R97H|HRH1_ENST00000431010.2_Missense_Mutation_p.R97H	p.R97H	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN			3	481	+			97					A8K047|Q6P9E5	Missense_Mutation	SNP	ENST00000397056.1	37	c.290G>A	CCDS2604.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693340	0.30052	2.27E-4	1.16E-4	ENSG00000196639	ENST00000438284;ENST00000431010;ENST00000397056	T;T;T	0.73047	-0.71;-0.71;-0.71	5.87	2.15	0.27550	GPCR, rhodopsin-like superfamily (1);	0.346611	0.28606	N	0.014755	T	0.57888	0.2084	L	0.58302	1.8	0.09310	N	1	P	0.35551	0.509	B	0.30401	0.115	T	0.45056	-0.9287	10	0.28530	T	0.3	-11.8412	6.106	0.20073	0.2733:0.0:0.5977:0.129	.	97	P35367	HRH1_HUMAN	H	97	ENSP00000406705:R97H;ENSP00000397028:R97H;ENSP00000380247:R97H	ENSP00000380247:R97H	R	+	2	0	HRH1	11276013	0.004000	0.15560	0.592000	0.28758	0.835000	0.47333	1.521000	0.35910	0.409000	0.25649	0.655000	0.94253	CGT		0.552	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251928.2			5	218	0	0	0	1	0	5	218					A	11301013	G	A	11301013	3	1	128	1	0	0	0	0	1	0	0	0	7355	1145	40	1	292	1	HRH1	3	11301013	Missense_Mutation	SNP	G	TCGA-DJ-A3UW-01A-11D-A22D-08		11301013	186721417	5	2748											
BMP2K	55589	broad.mit.edu	37	chr4	79792085	79792085	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagcatcgtcatcctcaccaGcagcagcagcagcagcagca	9	16	2	0	rs376418550	byFrequency	TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr4:79792085G>C	ENST00000335016.5	+	11	1546	c.1380G>C	c.(1378-1380)caG>caC	p.Q460H	BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	460	Gln/His-rich.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)	p.Q460H(3)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ATCCTCACcagcagcagcagc	0.577																																						ENST00000335016.5																			3	Substitution - Missense(3)	p.Q460H(3)	endometrium(2)|prostate(1)	NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1378-1380)caG>caC		BMP2 inducible kinase							40	45	44					4																	79792085		2203	4300	6503	SO:0001583	missense	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79792085G>C	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1380G>C	4.37:g.79792085G>C	ENSP00000334836:p.Gln460His					BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H	p.Q460H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			11	1546	+			460			Gln/His-rich.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	c.1380G>C	CCDS47083.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.089|8.089	0.774118|0.774118	0.16051|0.16051	.|.	.|.	ENSG00000138756|ENSG00000138756	ENST00000502613|ENST00000502871;ENST00000335016;ENST00000264889	.|T;T	.|0.74002	.|0.79;-0.8	5.12|5.12	2.26|2.26	0.28386|0.28386	.|.	.|1.238260	.|0.06146	.|N	.|0.673324	T|T	0.57504|0.57504	0.2058|0.2058	N|N	0.15975|0.15975	0.35|0.35	0.30181|0.30181	N|N	0.800383|0.800383	.|B;B	.|0.06786	.|0.001;0.0	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.51803|0.51803	-0.8659|-0.8659	5|10	.|0.42905	.|T	.|0.14	0.0809|0.0809	5.9141|5.9141	0.19045|0.19045	0.0722:0.2493:0.5501:0.1284|0.0722:0.2493:0.5501:0.1284	.|.	.|460;460	.|Q9NSY1;Q4W5H2	.|BMP2K_HUMAN;.	P|H	153|460;460;474	.|ENSP00000421768:Q460H;ENSP00000334836:Q460H	.|ENSP00000264889:Q474H	A|Q	+|+	1|3	0|2	BMP2K|BMP2K	80011109|80011109	0.996000|0.996000	0.38824|0.38824	0.995000|0.995000	0.50966|0.50966	0.181000|0.181000	0.23173|0.23173	0.092000|0.092000	0.15066|0.15066	0.524000|0.524000	0.28502|0.28502	0.460000|0.460000	0.39030|0.39030	GCA|CAG		0.577	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		3	47	0	0	0	1	0	3	47					C	79792085	G	C	79792085	3	2	128	1	0	0	0	0	1	0	0	0	1460	962	34	4	1422	4	BMP2K	4	79792085	Missense_Mutation	SNP	G	TCGA-DJ-A3UW-01A-11D-A22D-08		79792085	111362191	6	2749											
SEMA6A	57556	broad.mit.edu	37	chr5	115783144	115783144	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actctggggtggggagggccGtcaggtccaggtggtgctgg	21	8	2	0			TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr5:115783144G>A	ENST00000343348.6	-	19	3045	c.2258C>T	c.(2257-2259)aCg>aTg	p.T753M	SEMA6A_ENST00000513137.1_Missense_Mutation_p.T180M|CTB-118N6.3_ENST00000512128.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.T753M|CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.T770M|SEMA6A_ENST00000282394.6_Missense_Mutation_p.T230M|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000503865.1_Missense_Mutation_p.T132M	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	753					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GGGGAGGGCCGTCAGGTCCAG	0.637																																						ENST00000343348.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(2257-2259)aCg>aTg		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A							113	126	121					5																	115783144		2181	4270	6451	SO:0001583	missense	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115783144G>A	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"Semaphorins"	10738	protein-coding gene	gene with protein product	"sema VIa"	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.2258C>T	5.37:g.115783144G>A	ENSP00000345512:p.Thr753Met					SEMA6A_ENST00000513137.1_Missense_Mutation_p.T180M|SEMA6A_ENST00000510263.1_Missense_Mutation_p.T753M|SEMA6A_ENST00000257414.8_Missense_Mutation_p.T770M|SEMA6A_ENST00000282394.6_Missense_Mutation_p.T230M|SEMA6A_ENST00000503865.1_Missense_Mutation_p.T132M	p.T753M	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	19	3045	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	753					Q9P2H9	Missense_Mutation	SNP	ENST00000343348.6	37	c.2258C>T	CCDS47256.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.60|13.60	2.286663|2.286663	0.40494|0.40494	.|.	.|.	ENSG00000092421|ENSG00000092421	ENST00000515129|ENST00000343348;ENST00000257414;ENST00000513137;ENST00000282394;ENST00000503865;ENST00000510263	.|T;T;T;T;T;T	.|0.45276	.|2.2;2.2;0.9;2.71;0.9;2.2	5.2|5.2	4.31|4.31	0.51392|0.51392	.|.	.|0.262839	.|0.38005	.|N	.|0.001859	T|T	0.29684|0.29684	0.0741|0.0741	N|N	0.08118|0.08118	0|0	0.42214|0.42214	D|D	0.991826|0.991826	.|P;P;P;P;P;P	.|0.50819	.|0.939;0.752;0.752;0.843;0.872;0.809	.|B;B;B;P;B;B	.|0.44946	.|0.406;0.24;0.323;0.465;0.198;0.337	T|T	0.34104|0.34104	-0.9842|-0.9842	5|10	.|0.87932	.|D	.|0	.|.	15.2272|15.2272	0.73359|0.73359	0.0:0.1415:0.8585:0.0|0.0:0.1415:0.8585:0.0	.|.	.|132;753;297;770;230;180	.|E9PDV9;Q9H2E6;Q96SM8;Q9H2E6-2;E7ERF3;B3KU01	.|.;SEM6A_HUMAN;.;.;.;.	W|M	268|753;770;180;230;132;753	.|ENSP00000345512:T753M;ENSP00000257414:T770M;ENSP00000422997:T180M;ENSP00000282394:T230M;ENSP00000425364:T132M;ENSP00000424388:T753M	.|ENSP00000257414:T770M	R|T	-|-	1|2	2|0	SEMA6A|SEMA6A	115811043|115811043	1.000000|1.000000	0.71417|0.71417	0.639000|0.639000	0.29394|0.29394	0.854000|0.854000	0.48673|0.48673	7.602000|7.602000	0.82796|0.82796	1.146000|1.146000	0.42352|0.42352	0.650000|0.650000	0.86243|0.86243	CGG|ACG		0.637	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		5	243	0	0	0	1	0	5	243					A	115783144	G	A	115783144	3	1	128	1	0	0	0	0	1	0	0	0	14039	1145	40	1	838	1	SEMA6A	5	115783144	Missense_Mutation	SNP	G	TCGA-DJ-A3UW-01A-11D-A22D-08		115783144	65132116	7	2750											
BCLAF1	9774	broad.mit.edu	37	chr6	136582609	136582609	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atccacaccatcatctctgtCgtcatgctacagaaaggtta	6	12	3	1			TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr6:136582609C>A	ENST00000531224.1	-	12	2803	c.2551G>T	c.(2551-2553)Gac>Tac	p.D851Y	BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000530767.1_Missense_Mutation_p.D678Y|BCLAF1_ENST00000353331.4_Missense_Mutation_p.D800Y|BCLAF1_ENST00000031135.9_Missense_Mutation_p.D69Y|BCLAF1_ENST00000527759.1_Missense_Mutation_p.D849Y|BCLAF1_ENST00000527536.1_Missense_Mutation_p.D802Y|BCLAF1_ENST00000392348.2_Missense_Mutation_p.D800Y	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	851					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCATCTCTGTCGTCATGCTAC	0.378																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(2551-2553)Gac>Tac		BCL2-associated transcription factor 1							142	144	144					6																	136582609		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136582609C>A	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2551G>T	6.37:g.136582609C>A	ENSP00000435210:p.Asp851Tyr					BCLAF1_ENST00000031135.9_Missense_Mutation_p.D69Y|BCLAF1_ENST00000353331.4_Missense_Mutation_p.D800Y|BCLAF1_ENST00000527536.1_Missense_Mutation_p.D802Y|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000392348.2_Missense_Mutation_p.D800Y|BCLAF1_ENST00000527759.1_Missense_Mutation_p.D849Y|BCLAF1_ENST00000530767.1_Missense_Mutation_p.D678Y	p.D851Y	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	12	2803	-	Colorectal(23;0.24)		851					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.2551G>T	CCDS5177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.60|18.60	3.659090|3.659090	0.67586|0.67586	.|.	.|.	ENSG00000029363|ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000031135;ENST00000392348|ENST00000534762	T;T;T;T;T;T;T|.	0.59083|.	2.01;2.74;2.74;1.77;2.01;0.29;2.74|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.66655|0.66655	0.2811|0.2811	L|L	0.58810|0.58810	1.83|1.83	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	0.998;1.0;0.998;0.998;0.999|.	T|T	0.63488|0.63488	-0.6626|-0.6626	10|5	0.87932|.	D|.	0|.	-12.2699|-12.2699	19.3961|19.3961	0.94607|0.94607	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	849;130;800;851;678|.	Q9NYF8-2;B7Z8J9;Q9NYF8-3;Q9NYF8;Q9NYF8-4|.	.;.;.;BCLF1_HUMAN;.|.	Y|L	851;800;802;678;849;69;800|117	ENSP00000435210:D851Y;ENSP00000229446:D800Y;ENSP00000435441:D802Y;ENSP00000436501:D678Y;ENSP00000434826:D849Y;ENSP00000031135:D69Y;ENSP00000376159:D800Y|.	ENSP00000031135:D69Y|.	D|R	-|-	1|2	0|0	BCLAF1|BCLAF1	136624302|136624302	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.412000|6.412000	0.73303|0.73303	2.581000|2.581000	0.87130|0.87130	0.655000|0.655000	0.94253|0.94253	GAC|CGA		0.378	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		3	142	1	0	1	1	1	3	142					A	136582609	C	A	136582609	3	1	128	1	0	0	0	0	1	0	0	0	1383	884	31	4	219	4	BCLAF1	6	136582609	Missense_Mutation	SNP	C	TCGA-DJ-A3UW-01A-11D-A22D-08		136582609	34532458	8	2751											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		16	68	0	0	0	1	0	16	68					T	140453136	A	T	140453136	3	4	128	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3UW-01A-11D-A22D-08		140453136	18685527	9	2752											
TMPRSS4	56649	broad.mit.edu	37	chr11	117984149	117984149	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagttcccactcactttctcAggtgagaagcagggcccaag	10	13	2	1			TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr11:117984149A>G	ENST00000437212.3	+	9	1123	c.909A>G	c.(907-909)tcA>tcG	p.S303S	TMPRSS4_ENST00000534111.1_Splice_Site_p.S301S|TMPRSS4_ENST00000522307.1_Splice_Site_p.S156S|TMPRSS4_ENST00000523251.1_Splice_Site_p.S263S|TMPRSS4_ENST00000522824.1_Splice_Site_p.S298S|TMPRSS4_ENST00000518413.2_3'UTR			Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	303	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		TCACTTTCTCAGGTGAGAAGC	0.517																																						ENST00000534111.1																			0				breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19						c.e9+1		transmembrane protease, serine 4							116	97	104					11																	117984149		2200	4296	6496	SO:0001630	splice_region_variant	56649				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:117984149A>G	AF179224	CCDS31684.1, CCDS44743.1, CCDS53716.1, CCDS53717.1	11q23.3	2010-04-13			ENSG00000137648	ENSG00000137648		"Serine peptidases / Transmembrane"	11878	protein-coding gene	gene with protein product	"transmembrane serine protease 3", "membrane-type serine protease 2", "type II membrane serine protease"	606565				10825129	Standard	NM_001083947		Approved	TMPRSS3, MT-SP2	uc021qrd.1	Q9NRS4	OTTHUMG00000164122	ENST00000437212.3:c.910+1A>G	11.37:g.117984149A>G						TMPRSS4_ENST00000523251.1_Splice_Site_p.S263_splice|TMPRSS4_ENST00000522824.1_Splice_Site_p.S298_splice|TMPRSS4_ENST00000522307.1_Splice_Site_p.S156_splice|TMPRSS4_ENST00000437212.3_Splice_Site_p.S303_splice|TMPRSS4_ENST00000518413.2_3'UTR	p.S301_splice	NM_001083947.1|NM_001173551.1|NM_019894.3	NP_001077416.1|NP_001167022.1|NP_063947.1	Q9NRS4	TMPS4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)	9	1168	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)	303			Peptidase S1.		A8MU84|B0YJB0|B7Z8C5|E7ERX8|Q5XKQ6|Q6UX37|Q9NZA5	Splice_Site	SNP	ENST00000437212.3	37	c.904_splice	CCDS31684.1	.	.	.	.	.	.	.	.	.	.	A	7.052	0.564659	0.13498	.	.	ENSG00000137648	ENST00000524218	.	.	.	5.3	1.71	0.24356	.	.	.	.	.	T	0.54319	0.1851	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41448	-0.9508	4	.	.	.	.	6.8428	0.23973	0.5507:0.3135:0.0:0.1358	.	.	.	.	R	48	.	.	Q	+	2	0	TMPRSS4	117489359	1.000000	0.71417	0.999000	0.59377	0.118000	0.20060	0.906000	0.28517	0.036000	0.15547	0.533000	0.62120	CAG		0.517	TMPRSS4-004	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377328.2	NM_019894	Silent	3	81	0	0	0	1	0	3	81					G	117984149	A	G	117984149	5	3	128	1	0	0	0	0	0	0	1	0	16246	202	7	3	943	3	TMPRSS4	11	117984149	Splice_Site	SNP	A	TCGA-DJ-A3UW-01A-11D-A22D-08		117984149	17022367	10	2753											
ITPR2	3709	broad.mit.edu	37	chr12	26809335	26809335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgcatgtggagcatgaggCgacagaaggacgctcggagg	18	8	0	2			TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr12:26809335C>T	ENST00000381340.3	-	19	2755	c.2339G>A	c.(2338-2340)cGc>cAc	p.R780H		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	780					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GAGCATGAGGCGACAGAAGGA	0.562																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(2338-2340)cGc>cAc		inositol 1,4,5-trisphosphate receptor, type 2							73	78	77					12																	26809335		2047	4196	6243	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26809335C>T	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.2339G>A	12.37:g.26809335C>T	ENSP00000370744:p.Arg780His						p.R780H	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			19	2755	-	Colorectal(261;0.0847)		780					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.2339G>A	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977008	0.74360	.	.	ENSG00000123104	ENST00000381340	D	0.92495	-3.05	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.91418	0.7292	M	0.70903	2.155	0.80722	D	1	B	0.19073	0.033	B	0.18263	0.021	D	0.88851	0.3319	10	0.42905	T	0.14	.	18.0329	0.89290	0.0:1.0:0.0:0.0	.	780	Q14571	ITPR2_HUMAN	H	780	ENSP00000370744:R780H	ENSP00000370744:R780H	R	-	2	0	ITPR2	26700602	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.596000	0.82721	2.546000	0.85860	0.655000	0.94253	CGC		0.562	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		10	63	0	0	0	1	0	10	63					T	26809335	C	T	26809335	3	4	128	1	0	0	0	0	1	0	0	0	7921	768	27	1	5922	1	ITPR2	12	26809335	Missense_Mutation	SNP	C	TCGA-DJ-A3UW-01A-11D-A22D-08		26809335	107042560	11	2754											
DUOX1	53905	broad.mit.edu	37	chr15	45427465	45427465	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgggaccccgagaccggacgGagtcccagcaatccccggga	14	15	0	1			TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr15:45427465G>A	ENST00000321429.4	+	6	878	c.471G>A	c.(469-471)cgG>cgA	p.R157R	DUOX1_ENST00000389037.3_Silent_p.R157R	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	157	Peroxidase-like; mediates peroxidase activity.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		AGACCGGACGGAGTCCCAGCA	0.726																																						ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(469-471)cgG>cgA		dual oxidase 1							10	12	11					15																	45427465		2160	4262	6422	SO:0001819	synonymous_variant	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45427465G>A	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.471G>A	15.37:g.45427465G>A						DUOX1_ENST00000389037.3_Silent_p.R157R	p.R157R	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	6	878	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	157			Peroxidase-like; mediates peroxidase activity.		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Silent	SNP	ENST00000321429.4	37	c.471G>A	CCDS32221.1																																																																																				0.726	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		6	14	0	0	0	1	0	6	14					A	45427465	G	A	45427465	2	1	128	1	0	0	0	0	0	0	0	1	4800	1161	41	2		2	DUOX1	15	45427465	Silent	SNP	G	TCGA-DJ-A3UW-01A-11D-A22D-08		45427465	57103927	12	2755											
FHOD1	29109	broad.mit.edu	37	chr16	67264231	67264231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccacctcggtgatcatgcGtccccgggtcttgttgcgct	11	15	2	1			TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr16:67264231G>A	ENST00000258201.4	-	19	3284	c.3037C>T	c.(3037-3039)Cgc>Tgc	p.R1013C		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1013	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GTGATCATGCGTCCCCGGGTC	0.582																																						ENST00000258201.4																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(3037-3039)Cgc>Tgc		formin homology 2 domain containing 1							76	75	76					16																	67264231		2198	4300	6498	SO:0001583	missense	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67264231G>A	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.3037C>T	16.37:g.67264231G>A	ENSP00000258201:p.Arg1013Cys					FHOD1_ENST00000567687.1_Missense_Mutation_p.R592C	p.R1013C	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	19	3284	-		Ovarian(137;0.0563)	1013			FH2.		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	37	c.3037C>T	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.736847	0.69304	.	.	ENSG00000135723	ENST00000258201	T	0.39056	1.1	5.09	5.09	0.68999	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (1);	0.048641	0.85682	D	0.000000	T	0.57315	0.2045	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.58885	-0.7557	10	0.87932	D	0	.	12.3301	0.55035	0.0:0.0:0.8312:0.1688	.	1013	Q9Y613	FHOD1_HUMAN	C	1013	ENSP00000258201:R1013C	ENSP00000258201:R1013C	R	-	1	0	FHOD1	65821732	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.834000	0.55798	2.656000	0.90262	0.561000	0.74099	CGC		0.582	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			3	66	0	0	0	1	0	3	66					A	67264231	G	A	67264231	3	1	128	1	0	0	0	0	1	0	0	0	5882	1145	40	1	473	1	FHOD1	16	67264231	Missense_Mutation	SNP	G	TCGA-DJ-A3UW-01A-11D-A22D-08		67264231	23090522	13	2756											
CBX2	84733	broad.mit.edu	37	chr17	77755652	77755652	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcccagcacccccttggcGtagggggcaggcagagggag	16	14	0	1	rs201168057		TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr17:77755652G>A	ENST00000310942.4	+	4	392				CBX2_ENST00000269399.5_Missense_Mutation_p.V114I	NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2						cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|development of primary sexual characteristics (GO:0045137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.V114L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCCCCTTGGCGTAGGGGGCAG	0.637																																						ENST00000269399.5																			1	Substitution - Missense(1)	p.V114L(1)	lung(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16						c.(340-342)Gta>Ata		chromobox homolog 2		G	,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	40	47	45		,340	-2.8	0.0	17		45	0,8596		0,0,4298	no	intron,missense	CBX2	NM_005189.2,NM_032647.3	,29	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	,	,114/212	77755652	1,13001	2203	4298	6501	SO:0001627	intron_variant	84733				cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding	g.chr17:77755652G>A	BC004252, BG354579	CCDS11764.1, CCDS32757.1	17q25.3	2010-07-06	2010-06-24		ENSG00000173894	ENSG00000173894			1552	protein-coding gene	gene with protein product	"Pc class homolog (Drosophila)"	602770	"chromobox homolog 2 (Drosophila Pc class)", "cell division cycle associated 6"	CDCA6		7782071, 2477932	Standard	NM_005189		Approved	MGC10561	uc002jxc.3	Q14781		ENST00000310942.4:c.288+52G>A	17.37:g.77755652G>A						CBX2_ENST00000310942.4_Intron	p.V114I	NM_032647.3	NP_116036.1	Q14781	CBX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		4	382	+			0			Ser-rich.		Q0VDA5|Q9BTB1	Missense_Mutation	SNP	ENST00000310942.4	37	c.340G>A	CCDS32757.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.759571	0.31137	2.27E-4	0.0	ENSG00000173894	ENST00000269399	.	.	.	3.44	-2.75	0.05914	.	.	.	.	.	T	0.10809	0.0264	.	.	.	0.09310	N	1	P	0.38863	0.65	B	0.26614	0.071	T	0.18085	-1.0348	6	.	.	.	.	0.5403	0.00644	0.3715:0.1867:0.2668:0.1749	.	114	Q14781-2	.	I	114	.	.	V	+	1	0	CBX2	75370247	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-1.406000	0.02490	-0.380000	0.07894	0.561000	0.74099	GTA		0.637	CBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437040.1	NM_032647		4	61	0	0	0	1	0	4	61					A	77755652	G	A	77755652	1	1	128	0	1	0	0	0	0	0	0	0	2718	1145	40	1		1	CBX2	17	77755652	Intron	SNP	G	TCGA-DJ-A3UW-01A-11D-A22D-08		77755652	3439558	14	2757											
KIAA1683	80726	broad.mit.edu	37	chr19	18368263	18368263	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccaagacactgccccgggGccctcagtgccctggcccat	11	19	1	1	rs369557718		TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr19:18368263G>A	ENST00000600328.3	-	4	3463	c.3270C>T	c.(3268-3270)ggC>ggT	p.G1090G	KIAA1683_ENST00000600359.3_Silent_p.G1044G|PDE4C_ENST00000596647.1_5'Flank|PDE4C_ENST00000355502.3_5'Flank|KIAA1683_ENST00000392413.4_Silent_p.G1277G			Q9H0B3	K1683_HUMAN	KIAA1683	1090						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTGCCCCGGGGCCCTCAGTGC	0.687																																						ENST00000392413.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3829-3831)ggC>ggT		KIAA1683		G	,,	3,4391		0,3,2194	17	19	18		3831,3132,3270	2.2	0.0	19		18	0,8590		0,0,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	KIAA1683	NM_001145304.1,NM_001145305.1,NM_025249.3	,,	0,3,6489	AA,AG,GG		0.0,0.0683,0.0231	,,	1277/1368,1044/1135,1090/1181	18368263	3,12981	2197	4295	6492	SO:0001819	synonymous_variant	80726					mitochondrion		g.chr19:18368263G>A	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.3270C>T	19.37:g.18368263G>A						KIAA1683_ENST00000600359.2_Silent_p.G1044G|KIAA1683_ENST00000600328.2_Silent_p.G1090G	p.G1277G	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN			4	4046	-			0					B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Silent	SNP	ENST00000600328.3	37	c.3831C>T	CCDS32958.1																																																																																				0.687	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			4	22	0	0	0	1	0	4	22					A	18368263	G	A	18368263	2	1	128	1	0	0	0	0	0	0	0	1	8251	1190	42	2		2	KIAA1683	19	18368263	Silent	SNP	G	TCGA-DJ-A3UW-01A-11D-A22D-08		18368263	40760720	15	2758											
SHANK1	50944	broad.mit.edu	37	chr19	51171483	51171483	+	Frame_Shift_Del	DEL	C	C	-													ggcgcgcctcattctgccagCccccctccctccgggccgcc							TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr19:51171483delC	ENST00000293441.1	-	22	3752	c.3734delG	c.(3733-3735)ggcfs	p.G1245fs	SHANK1_ENST00000391813.1_Frame_Shift_Del_p.G632fs|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_Frame_Shift_Del_p.G1253fs|SHANK1_ENST00000359082.3_Frame_Shift_Del_p.G1236fs	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1245					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)		ATTCTGCCAGCCCCCCTCCCT	0.796																																						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.(3733-3735)gcfs		SH3 and multiple ankyrin repeat domains 1							3	4	4					19																	51171483		1264	2727	3991	SO:0001589	frameshift_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51171483delC	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.3734delG	19.37:g.51171483delC	ENSP00000293441:p.Gly1245fs					SHANK1_ENST00000391813.1_Frame_Shift_Del_p.G632fs|SHANK1_ENST00000359082.3_Frame_Shift_Del_p.G1236fs|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_Frame_Shift_Del_p.G1253fs	p.G1245fs	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	22	3752	-		all_neural(266;0.057)	1245					A8MXP5|B7WNY6|Q9NYW9	Frame_Shift_Del	DEL	ENST00000293441.1	37	c.3734delG	CCDS12799.1																																																																																				0.796	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		2	4						2	4	---	---	---	---	-	51171483	C	-	51171483	7	5	128	1	0	1	0	1	0	0	0	0	14264	739	26	0	2759	0	SHANK1	19	51171483	Frame_Shift_Del	DEL	C	TCGA-DJ-A3UW-01A-11D-A22D-08	32803220	51171483	7957500	16	2759											
ZNF749	388567	broad.mit.edu	37	chr19	57956103	57956103	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtcccacctagttcagcaTgagaaaatccacactgatgc	7	12	1	2			TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr19:57956103T>C	ENST00000334181.4	+	3	1837	c.1587T>C	c.(1585-1587)caT>caC	p.H529H	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	529					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(6)|kidney(2)|lung(3)|prostate(1)	13		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;0.0264)|Lung(386;0.177)		TAGTTCAGCATGAGAAAATCC	0.453																																						ENST00000334181.4																			0				breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(1585-1587)caT>caC		zinc finger protein 749							97	93	94					19																	57956103		2203	4300	6503	SO:0001819	synonymous_variant	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57956103T>C	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"Zinc fingers, C2H2-type", "-"	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1587T>C	19.37:g.57956103T>C						AC004076.9_ENST00000596831.1_Intron	p.H529H	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	1837	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	529						Silent	SNP	ENST00000334181.4	37	c.1587T>C	CCDS33132.2																																																																																				0.453	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		4	102	0	0	0	1	0	4	102					C	57956103	T	C	57956103	2	2	128	1	0	0	0	0	0	0	0	1	18128	1461	51	3		3	ZNF749	19	57956103	Silent	SNP	T	TCGA-DJ-A3UW-01A-11D-A22D-08	6784620	57956103	1172880	17	2760											
KAZ	23254	broad.mit.edu	37	chr1	14925625	14925625	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggaactgagcggcggcggCggccccggcccgggcccggg	21	16	0	1			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr1:14925625C>T	ENST00000376030.2	+	1	426	c.132C>T	c.(130-132)ggC>ggT	p.G44G	KAZN_ENST00000422387.2_Silent_p.G44G|KAZN_ENST00000503743.1_Silent_p.G44G	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	44					keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						gcggcggcggcggccccggcc	0.741																																						ENST00000376030.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						c.(130-132)ggC>ggT		kazrin, periplakin interacting protein							7	9	9					1																	14925625		1768	3964	5732	SO:0001819	synonymous_variant	23254				keratinization	cornified envelope|cytoplasm|desmosome|nucleus		g.chr1:14925625C>T	AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"Sterile alpha motif (SAM) domain containing"	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.132C>T	1.37:g.14925625C>T						KAZN_ENST00000503743.1_Silent_p.G44G|KAZN_ENST00000422387.2_Silent_p.G44G	p.G44G	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN			1	426	+			44					B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Silent	SNP	ENST00000376030.2	37	c.132C>T	CCDS152.2																																																																																				0.741	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2	NM_001017999		3	31	0	0	0	1	0	3	31					T	14925625	C	T	14925625	2	4	129	1	0	0	0	0	0	0	0	1	7988	755	27	1		1	KAZ	1	14925625	Silent	SNP	C	TCGA-DJ-A3UX-01A-11D-A22D-08		14925625	234324996	1	2761											
PKLR	5313	broad.mit.edu	37	chr1	155263298	155263298	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccctgacagcatgatgcaGtcagccccatccagcacagc	8	17	1	2			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr1:155263298G>A	ENST00000342741.4	-	8	1238	c.1200C>T	c.(1198-1200)gaC>gaT	p.D400D	PKLR_ENST00000392414.3_Silent_p.D369D	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	400					ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GCATGATGCAGTCAGCCCCAT	0.582																																						ENST00000392414.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1105-1107)gaC>gaT		pyruvate kinase, liver and RBC	Pyruvic acid(DB00119)						83	69	74					1																	155263298		2203	4300	6503	SO:0001819	synonymous_variant	5313				endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	g.chr1:155263298G>A	BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.1200C>T	1.37:g.155263298G>A						PKLR_ENST00000342741.4_Silent_p.D400D	p.D369D	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		8	1220	-	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		400					O75758|P11973	Silent	SNP	ENST00000342741.4	37	c.1107C>T	CCDS1109.1																																																																																				0.582	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	NM_000298		3	71	0	0	0	1	0	3	71					A	155263298	G	A	155263298	2	1	129	1	0	0	0	0	0	0	0	1	11976	1020	36	2		2	PKLR	1	155263298	Silent	SNP	G	TCGA-DJ-A3UX-01A-11D-A22D-08	140337673	155263298	93987323	2	2762											
GPR35	2859	broad.mit.edu	37	chr2	241569925	241569925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattctacctgcccctggccGtggtggtcttctgctccctg	11	15	3	0	rs146267919		TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr2:241569925G>A	ENST00000319838.5	+	6	1498	c.556G>A	c.(556-558)Gtg>Atg	p.V186M	GPR35_ENST00000430267.1_Missense_Mutation_p.V186M|GPR35_ENST00000403859.1_Missense_Mutation_p.V186M|GPR35_ENST00000407714.1_Missense_Mutation_p.V186M|GPR35_ENST00000438013.2_Missense_Mutation_p.V217M	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	186					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		GCCCCTGGCCGTGGTGGTCTT	0.662																																						ENST00000319838.5																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17						c.(556-558)Gtg>Atg		G protein-coupled receptor 35		G	MET/VAL,MET/VAL,MET/VAL	0,4398		0,0,2199	39	43	41		649,649,556	0.9	1.0	2	dbSNP_134	41	1,8593		0,1,4296	no	missense,missense,missense	GPR35	NM_001195381.1,NM_001195382.1,NM_005301.3	21,21,21	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	217/341,217/341,186/310	241569925	1,12991	2199	4297	6496	SO:0001583	missense	2859					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:241569925G>A		CCDS2541.1, CCDS56174.1	2q37.3	2012-08-21			ENSG00000178623	ENSG00000178623		"GPCR / Class A : Orphans"	4492	protein-coding gene	gene with protein product		602646				9479505	Standard	NM_005301		Approved		uc021vze.1	Q9HC97	OTTHUMG00000133356	ENST00000319838.5:c.556G>A	2.37:g.241569925G>A	ENSP00000322731:p.Val186Met					GPR35_ENST00000438013.2_Missense_Mutation_p.V217M|GPR35_ENST00000430267.1_Missense_Mutation_p.V186M|GPR35_ENST00000407714.1_Missense_Mutation_p.V186M|GPR35_ENST00000403859.1_Missense_Mutation_p.V186M	p.V186M	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)	6	1498	+		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)	186					J3KR30|O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4	Missense_Mutation	SNP	ENST00000319838.5	37	c.556G>A	CCDS2541.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109884	0.37242	0.0	1.16E-4	ENSG00000178623	ENST00000319838;ENST00000403859;ENST00000438013;ENST00000407714;ENST00000430267	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	3.91	0.89	0.19218	GPCR, rhodopsin-like superfamily (1);	0.275102	0.29073	U	0.013239	T	0.54431	0.1858	M	0.78344	2.41	0.09310	N	1	D;D;D	0.76494	0.999;0.998;0.99	D;D;P	0.66847	0.947;0.913;0.857	T	0.42732	-0.9434	10	0.72032	D	0.01	-14.0955	3.0461	0.06154	0.3535:0.2222:0.4243:0.0	.	271;217;186	Q6ZMP9;A8K2J1;Q9HC97	.;.;GPR35_HUMAN	M	186;186;217;186;186	ENSP00000322731:V186M;ENSP00000385140:V186M;ENSP00000415890:V217M;ENSP00000384263:V186M;ENSP00000411788:V186M	ENSP00000322731:V186M	V	+	1	0	GPR35	241218598	0.000000	0.05858	0.999000	0.59377	0.527000	0.34593	0.200000	0.17257	0.375000	0.24679	0.455000	0.32223	GTG		0.662	GPR35-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325631.1	NM_001195382		3	83	0	0	0	1	0	3	83					A	241569925	G	A	241569925	3	1	129	1	0	0	0	0	1	0	0	0	6690	1145	40	1	558	1	GPR35	2	241569925	Missense_Mutation	SNP	G	TCGA-DJ-A3UX-01A-11D-A22D-08		241569925	1629448	3	2763											
CACNA1D	776	broad.mit.edu	37	chr3	53700562	53700562	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggacagatgtgctctactgGgtaagtaccctggggagaga	15	7	1	2			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr3:53700562G>T	ENST00000350061.5	+	7	1627	c.1116G>T	c.(1114-1116)tgG>tgT	p.W372C	CACNA1D_ENST00000422281.2_Splice_Site_p.W372C|CACNA1D_ENST00000288139.4_Splice_Site_p.W372C	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	372					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|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 potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGCTCTACTGGGTAAGTACCC	0.502																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.e7+1		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						126	128	127					3																	53700562		2203	4300	6503	SO:0001630	splice_region_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53700562G>T	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.1116+1G>T	3.37:g.53700562G>T						CACNA1D_ENST00000422281.2_Splice_Site_p.W372_splice|CACNA1D_ENST00000350061.5_Splice_Site_p.W372_splice	p.W372_splice	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	7	1234	+			372					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Splice_Site	SNP	ENST00000350061.5	37	c.1116_splice	CCDS46848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.68|16.68	3.191033|3.191033	0.58017|0.58017	.|.	.|.	ENSG00000157388|ENSG00000157388	ENST00000481085|ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	.|D;D;D;D	.|0.98419	.|-4.92;-4.92;-4.92;-4.92	5.06|5.06	5.06|5.06	0.68205|0.68205	.|Ion transport (1);	.|.	.|.	.|.	.|.	D|D	0.99180|0.99180	0.9716|0.9716	M|M	0.91140|0.91140	3.18|3.18	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.99;0.981;0.999	D|D	0.99338|0.99338	1.0911|1.0911	5|9	.|0.87932	.|D	.|0	.|.	18.6007|18.6007	0.91247|0.91247	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|372;45;372;372	.|B0FYA3;Q59GD8;Q01668;Q01668-2	.|.;.;CAC1D_HUMAN;.	V|C	58|372;372;372;45	.|ENSP00000288133:W372C;ENSP00000288139:W372C;ENSP00000409174:W372C;ENSP00000418014:W45C	.|ENSP00000288139:W372C	G|W	+|+	2|3	0|0	CACNA1D|CACNA1D	53675602|53675602	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.340000|0.340000	0.28889|0.28889	9.601000|9.601000	0.98297|0.98297	2.629000|2.629000	0.89072|0.89072	0.491000|0.491000	0.48974|0.48974	GGG|TGG		0.502	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720	Missense_Mutation	6	234	1	0	0.0293803	1	0.0300636	6	234					T	53700562	G	T	53700562	5	4	129	1	0	0	0	0	0	0	1	0	2541	1246	43	4	1142	4	CACNA1D	3	53700562	Splice_Site	SNP	G	TCGA-DJ-A3UX-01A-11D-A22D-08		53700562	144321868	4	2764											
AGPAT9	84803	broad.mit.edu	37	chr4	84465712	84465712	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccacaatacgaattgaaaaAggaaccccaaaggagtcgat	9	9	0	1			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr4:84465712A>G	ENST00000395226.2	+	3	383	c.165A>G	c.(163-165)aaA>aaG	p.K55K	AGPAT9_ENST00000264409.4_Silent_p.K55K	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	55					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|regulation of TOR signaling (GO:0032006)|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)|glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				GAATTGAAAAAGGAACCCCAA	0.343																																						ENST00000395226.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13						c.(163-165)aaA>aaG		1-acylglycerol-3-phosphate O-acyltransferase 9							193	208	203					4																	84465712		2203	4300	6503	SO:0001819	synonymous_variant	84803				phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr4:84465712A>G	AK055749	CCDS3606.1	4q21.23	2014-02-13	2008-01-29		ENSG00000138678	ENSG00000138678	2.3.1.15	"1-acylglycerol-3-phosphate O-acyltransferases"	28157	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, theta"	610958	"1-acylglycerol-3-phosphate O-acyltransferase 9 (lysophosphatidic acid acyltransferase, theta)"			12975309	Standard	NM_001256421		Approved	MGC11324, LPAAT-theta, MAG1, HMFN0839	uc003how.4	Q53EU6	OTTHUMG00000130431	ENST00000395226.2:c.165A>G	4.37:g.84465712A>G						AGPAT9_ENST00000264409.4_Silent_p.K55K	p.K55K	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN			3	383	+		Hepatocellular(203;0.114)	55					Q68CJ4|Q6GPI6|Q96NA3	Silent	SNP	ENST00000395226.2	37	c.165A>G	CCDS3606.1																																																																																				0.343	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252821.3	NM_032717		3	185	0	0	0	1	0	3	185					G	84465712	A	G	84465712	2	3	129	1	0	0	0	0	0	0	0	1	392	69	3	3		3	AGPAT9	4	84465712	Silent	SNP	A	TCGA-DJ-A3UX-01A-11D-A22D-08		84465712	106688564	5	2765											
ADH7	131	broad.mit.edu	37	chr4	100350697	100350697	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctcacgcttaccttaatgcGaacttctttagtctttggtg	8	10	3	0			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr4:100350697G>A	ENST00000209665.4	-	2	388	c.148C>T	c.(148-150)Cgc>Tgc	p.R50C	ADH7_ENST00000476959.1_Missense_Mutation_p.R58C|ADH7_ENST00000437033.2_Missense_Mutation_p.R38C|ADH7_ENST00000482593.1_5'UTR	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	50					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		ACCTTAATGCGAACTTCTTTA	0.403																																						ENST00000437033.2																			0				breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19						c.(112-114)Cgc>Tgc		alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	NADH(DB00157)						98	85	90					4																	100350697		2203	4300	6503	SO:0001583	missense	131				ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity	g.chr4:100350697G>A	X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"Alcohol dehydrogenases"	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.148C>T	4.37:g.100350697G>A	ENSP00000209665:p.Arg50Cys					ADH7_ENST00000209665.4_Missense_Mutation_p.R50C|ADH7_ENST00000482593.1_5'UTR|ADH7_ENST00000476959.1_Missense_Mutation_p.R58C	p.R38C			P40394	ADH7_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	2	615	-			50					A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Missense_Mutation	SNP	ENST00000209665.4	37	c.112C>T	CCDS34034.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559571	0.65538	.	.	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000476959	T;T;T	0.05199	3.48;3.48;3.48	4.05	1.29	0.21616	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.171784	0.52532	D	0.000065	T	0.23532	0.0569	H	0.94886	3.595	0.80722	D	1	D	0.55800	0.973	P	0.56823	0.807	T	0.01287	-1.1395	10	0.72032	D	0.01	-16.1279	6.3998	0.21632	0.16:0.0:0.6933:0.1467	.	50	P40394	ADH7_HUMAN	C	38;50;58	ENSP00000414254:R38C;ENSP00000209665:R50C;ENSP00000420269:R58C	ENSP00000209665:R50C	R	-	1	0	ADH7	100569720	0.997000	0.39634	0.028000	0.17463	0.978000	0.69477	5.693000	0.68264	0.121000	0.18284	0.655000	0.94253	CGC		0.403	ADH7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000673		6	23	0	0	0	1	0	6	23					A	100350697	G	A	100350697	3	1	129	1	0	0	0	0	1	0	0	0	313	1058	37	1	1044	1	ADH7	4	100350697	Missense_Mutation	SNP	G	TCGA-DJ-A3UX-01A-11D-A22D-08	15884985	100350697	90803579	6	2766											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		24	104	0	0	0	1	0	24	104					T	140453136	A	T	140453136	3	4	129	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3UX-01A-11D-A22D-08		140453136	18685527	7	2767											
EPPK1	83481	broad.mit.edu	37	chr8	144941254	144941254	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttctcttgcgtgttcggGtccacaaaccgtttcctcat	7	14	2	0			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr8:144941254G>A	ENST00000525985.1	-	2	6239	c.6168C>T	c.(6166-6168)gaC>gaT	p.D2056D				P58107	EPIPL_HUMAN	epiplakin 1	2056						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCGTGTTCGGGTCCACAAACC	0.587																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6166-6168)gaC>gaT		epiplakin 1							73	78	76					8																	144941254		2132	4241	6373	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144941254G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6168C>T	8.37:g.144941254G>A							p.D2056D			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	6239	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2056					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.6168C>T																																																																																					0.587	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		3	76	0	0	0	1	0	3	76					A	144941254	G	A	144941254	2	1	129	1	0	0	0	0	0	0	0	1	5190	1252	44	2		2	EPPK1	8	144941254	Silent	SNP	G	TCGA-DJ-A3UX-01A-11D-A22D-08		144941254	1422768	8	2768											
NPM3	10360	broad.mit.edu	37	chr10	103542065	103542065	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccagagcccgacttcaggCggaaggttacaggtggttgg	17	9	1	1			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr10:103542065C>A	ENST00000370110.5	-	4	390	c.368G>T	c.(367-369)cGc>cTc	p.R123L	NPM3_ENST00000474993.1_5'UTR	NM_006993.2	NP_008924.1	O75607	NPM3_HUMAN	nucleophosmin/nucleoplasmin 3	123					rRNA processing (GO:0006364)|rRNA transcription (GO:0009303)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|lung(1)|skin(1)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		CGACTTCAGGCGGAAGGTTAC	0.602																																						ENST00000370110.5																			0				large_intestine(3)|lung(1)|skin(1)	5						c.(367-369)cGc>cTc		nucleophosmin/nucleoplasmin 3							68	68	68					10																	103542065		2203	4300	6503	SO:0001583	missense	10360						nucleic acid binding	g.chr10:103542065C>A	AY049737	CCDS7519.1	10q24.31	2009-08-27	2009-08-27		ENSG00000107833	ENSG00000107833			7931	protein-coding gene	gene with protein product		606456				11722795	Standard	NM_006993		Approved		uc001ktt.3	O75607	OTTHUMG00000018942	ENST00000370110.5:c.368G>T	10.37:g.103542065C>A	ENSP00000359128:p.Arg123Leu					NPM3_ENST00000474993.1_5'UTR	p.R123L	NM_006993.2	NP_008924.1	O75607	NPM3_HUMAN		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)	4	390	-		Colorectal(252;0.122)	123					Q9UNY6	Missense_Mutation	SNP	ENST00000370110.5	37	c.368G>T	CCDS7519.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.462594	0.84425	.	.	ENSG00000107833	ENST00000370110	T	0.55930	0.49	5.61	2.75	0.32379	Nucleoplasmin core (2);	0.048583	0.85682	D	0.000000	T	0.63034	0.2477	M	0.66297	2.02	0.52501	D	0.99995	D	0.62365	0.991	P	0.60012	0.867	T	0.64162	-0.6472	10	0.72032	D	0.01	-15.6254	9.101	0.36669	0.0:0.7693:0.0:0.2307	.	123	O75607	NPM3_HUMAN	L	123	ENSP00000359128:R123L	ENSP00000359128:R123L	R	-	2	0	NPM3	103532055	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.395000	0.44459	0.744000	0.32741	-0.136000	0.14681	CGC		0.602	NPM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050003.2	NM_006993		7	29	1	0	0.000274275	1	0.000301703	7	29					A	103542065	C	A	103542065	3	1	129	1	0	0	0	0	1	0	0	0	10589	768	27	4	176	4	NPM3	10	103542065	Missense_Mutation	SNP	C	TCGA-DJ-A3UX-01A-11D-A22D-08		103542065	31992682	9	2769											
PHRF1	57661	broad.mit.edu	37	chr11	608072	608072	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagcccgaaggcccagacGgtgcaggctgtgcgctgcgt	15	13	0	1			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr11:608072G>A	ENST00000264555.5	+	14	2744	c.2616G>A	c.(2614-2616)acG>acA	p.T872T	PHRF1_ENST00000416188.2_Silent_p.T871T|PHRF1_ENST00000413872.2_Silent_p.T870T|PHRF1_ENST00000533464.1_Silent_p.T868T	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	872					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						AGGCCCAGACGGTGCAGGCTG	0.657																																						ENST00000264555.5																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(2614-2616)acG>acA		PHD and ring finger domains 1							70	82	78					11																	608072		2099	4219	6318	SO:0001819	synonymous_variant	57661						RNA polymerase binding|zinc ion binding	g.chr11:608072G>A	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	24351	protein-coding gene	gene with protein product	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.2616G>A	11.37:g.608072G>A						PHRF1_ENST00000416188.2_Silent_p.T871T|PHRF1_ENST00000413872.2_Silent_p.T870T|PHRF1_ENST00000533464.1_Silent_p.T868T	p.T872T	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN			14	2744	+			872					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Silent	SNP	ENST00000264555.5	37	c.2616G>A																																																																																					0.657	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		4	204	0	0	0	1	0	4	204					A	608072	G	A	608072	2	1	129	1	0	0	0	0	0	0	0	1	11861	1103	39	1		1	PHRF1	11	608072	Silent	SNP	G	TCGA-DJ-A3UX-01A-11D-A22D-08		608072	134398444	10	2770											
TECTA	7007	broad.mit.edu	37	chr11	121000902	121000902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtggaggtggggccctggCggacctatgacttctgccgt	16	11	1	1	rs138696978		TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr11:121000902C>T	ENST00000392793.1	+	10	3194	c.2923C>T	c.(2923-2925)Cgg>Tgg	p.R975W	TECTA_ENST00000264037.2_Missense_Mutation_p.R975W			O75443	TECTA_HUMAN	tectorin alpha	975					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGGGCCCTGGCGGACCTATGA	0.597																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(2923-2925)Cgg>Tgg		tectorin alpha		C	TRP/ARG	0,4406		0,0,2203	52	59	57		2923	0.6	1.0	11	dbSNP_134	57	1,8597	1.2+/-3.3	0,1,4298	no	missense	TECTA	NM_005422.2	101	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	975/2156	121000902	1,13003	2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121000902C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2923C>T	11.37:g.121000902C>T	ENSP00000376543:p.Arg975Trp					TECTA_ENST00000264037.2_Missense_Mutation_p.R975W	p.R975W			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	10	3194	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	975						Missense_Mutation	SNP	ENST00000392793.1	37	c.2923C>T	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444548	0.63178	0.0	1.16E-4	ENSG00000109927	ENST00000392793;ENST00000264037	D;D	0.84800	-1.9;-1.9	5.4	0.623	0.17654	Uncharacterised domain, cysteine-rich (2);	0.000000	0.85682	D	0.000000	D	0.94525	0.8237	H	0.96430	3.82	0.40192	D	0.977411	D	0.89917	1.0	D	0.97110	1.0	D	0.96205	0.9148	10	0.87932	D	0	.	17.5401	0.87845	0.7748:0.2252:0.0:0.0	.	975	O75443	TECTA_HUMAN	W	975	ENSP00000376543:R975W;ENSP00000264037:R975W	ENSP00000264037:R975W	R	+	1	2	TECTA	120506112	1.000000	0.71417	0.993000	0.49108	0.999000	0.98932	1.611000	0.36879	0.106000	0.17784	0.650000	0.86243	CGG		0.597	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		3	97	0	0	0	1	0	3	97					T	121000902	C	T	121000902	3	4	129	1	0	0	0	0	1	0	0	0	15744	759	27	1	2957	1	TECTA	11	121000902	Missense_Mutation	SNP	C	TCGA-DJ-A3UX-01A-11D-A22D-08	120392830	121000902	14005614	11	2771											
STAB2	55576	broad.mit.edu	37	chr12	104107531	104107531	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagcaggctacacgggtgatGgcattgtgtgcctgggtagg	17	7	0	1			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr12:104107531G>T	ENST00000388887.2	+	42	4726	c.4522G>T	c.(4522-4524)Ggc>Tgc	p.G1508C		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CACGGGTGATGGCATTGTGTG	0.517																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(4522-4524)Ggc>Tgc		stabilin 2							291	258	269					12																	104107531		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104107531G>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.4522G>T	12.37:g.104107531G>T	ENSP00000373539:p.Gly1508Cys						p.G1508C	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			42	4726	+			1508			EGF-like 12.			Missense_Mutation	SNP	ENST00000388887.2	37	c.4522G>T	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.216651	0.58452	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.99909	-7.85	5.18	5.18	0.71444	EGF domain, merozoite surface protein 1-like (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99945	0.9976	H	0.98980	4.39	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.96012	0.9002	10	0.66056	D	0.02	.	18.7123	0.91662	0.0:0.0:1.0:0.0	.	1508	Q8WWQ8	STAB2_HUMAN	C	1508;195	ENSP00000373539:G1508C	ENSP00000258495:G195C	G	+	1	0	STAB2	102631661	1.000000	0.71417	0.991000	0.47740	0.212000	0.24457	8.678000	0.91211	2.411000	0.81874	0.555000	0.69702	GGC		0.517	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			72	334	1	0	3.19358e-47	1	3.60301e-47	72	334					T	104107531	G	T	104107531	3	4	129	1	0	0	0	0	1	0	0	0	15237	1348	47	4	4688	4	STAB2	12	104107531	Missense_Mutation	SNP	G	TCGA-DJ-A3UX-01A-11D-A22D-08		104107531	29744364	12	2772											
CDH24	64403	broad.mit.edu	37	chr14	23523469	23523469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttgtcccccaggtctgggtCctgggcccggagccggccca	15	16	1	0			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr14:23523469C>T	ENST00000267383.5	-	5	945	c.853G>A	c.(853-855)Gac>Aac	p.D285N	CDH24_ENST00000554034.1_Missense_Mutation_p.D285N|CDH24_ENST00000397359.3_Missense_Mutation_p.D285N|CDH24_ENST00000487137.2_Missense_Mutation_p.D285N			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	285	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		AGGTCTGGGTCCTGGGCCCGG	0.632																																						ENST00000397359.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(853-855)Gac>Aac		cadherin 24, type 2							86	89	88					14																	23523469		2203	4300	6503	SO:0001583	missense	64403				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding	g.chr14:23523469C>T	AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"Cadherins / Major cadherins"	14265	protein-coding gene	gene with protein product			"cadherin-like 24"			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.853G>A	14.37:g.23523469C>T	ENSP00000267383:p.Asp285Asn					CDH24_ENST00000487137.2_Missense_Mutation_p.D285N|CDH24_ENST00000554034.1_Missense_Mutation_p.D285N|CDH24_ENST00000267383.5_Missense_Mutation_p.D285N	p.D285N	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	6	1112	-	all_cancers(95;3.3e-05)		285			Cadherin 3.		D3DS44|Q86UP1|Q9NT84	Missense_Mutation	SNP	ENST00000267383.5	37	c.853G>A	CCDS9585.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.728145	0.89390	.	.	ENSG00000139880	ENST00000397359;ENST00000487137;ENST00000554034;ENST00000267383	T;T;T;T	0.61627	0.09;0.09;0.09;0.09	4.77	4.77	0.60923	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.84032	0.5383	H	0.97131	3.945	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.89693	0.3899	10	0.87932	D	0	.	16.7125	0.85389	0.0:1.0:0.0:0.0	.	285;285;285	Q86UP0-2;Q96LQ7;Q86UP0	.;.;CAD24_HUMAN	N	285	ENSP00000380517:D285N;ENSP00000434821:D285N;ENSP00000452493:D285N;ENSP00000267383:D285N	ENSP00000267383:D285N	D	-	1	0	CDH24	22593309	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.215000	0.77966	2.469000	0.83416	0.655000	0.94253	GAC		0.632	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478		6	263	0	0	0	1	0	6	263					T	23523469	C	T	23523469	3	4	129	1	0	0	0	0	1	0	0	0	3109	855	30	2	1638	2	CDH24	14	23523469	Missense_Mutation	SNP	C	TCGA-DJ-A3UX-01A-11D-A22D-08		23523469	83826071	13	2773											
LTB4R	1241	broad.mit.edu	37	chr14	24785074	24785074	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgtattgctcactgctcccTttttccttcacttcctggcc	5	17	2	0			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr14:24785074T>C	ENST00000396789.4	+	2	1942	c.217T>C	c.(217-219)Ttt>Ctt	p.F73L	LTB4R_ENST00000396782.2_Missense_Mutation_p.F73L|LTB4R_ENST00000345363.3_Missense_Mutation_p.F73L	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	73					cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|muscle contraction (GO:0006936)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	leukotriene B4 receptor activity (GO:0001632)|leukotriene receptor activity (GO:0004974)|nucleotide binding (GO:0000166)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		CACTGCTCCCTTTTTCCTTCA	0.582																																						ENST00000396789.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8						c.(217-219)Ttt>Ctt		leukotriene B4 receptor							183	163	170					14																	24785074		2203	4300	6503	SO:0001583	missense	1241				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding	g.chr14:24785074T>C	X98356	CCDS9626.1	14q11.2-q12	2012-08-10			ENSG00000213903	ENSG00000213903		"GPCR / Class A : Leukotriene receptors"	6713	protein-coding gene	gene with protein product		601531		P2RY7, GPR16, CMKRL1		8921391, 8702478	Standard	NM_181657		Approved	BLTR, P2Y7, LTB4R1	uc001wos.3	Q15722	OTTHUMG00000029346	ENST00000396789.4:c.217T>C	14.37:g.24785074T>C	ENSP00000380008:p.Phe73Leu					LTB4R_ENST00000396782.2_Missense_Mutation_p.F73L|LTB4R_ENST00000345363.3_Missense_Mutation_p.F73L	p.F73L	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	2	1942	+			73					Q13305|Q53XV5|Q92641|Q9BSU5	Missense_Mutation	SNP	ENST00000396789.4	37	c.217T>C	CCDS9626.1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.145293	0.37825	.	.	ENSG00000213903	ENST00000553481;ENST00000345363;ENST00000396789;ENST00000396782	T;T;T;T	0.37235	1.21;1.21;1.21;1.21	5.89	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	0.238062	0.36200	U	0.002721	T	0.27629	0.0679	L	0.37466	1.105	0.37507	D	0.917019	B	0.17465	0.022	B	0.17433	0.018	T	0.12142	-1.0559	10	0.20046	T	0.44	.	11.3543	0.49607	0.0:0.0:0.1521:0.8479	.	73	Q15722	LT4R1_HUMAN	L	73	ENSP00000450457:F73L;ENSP00000307445:F73L;ENSP00000380008:F73L;ENSP00000380002:F73L	ENSP00000307445:F73L	F	+	1	0	LTB4R	23854914	0.279000	0.24239	0.998000	0.56505	0.991000	0.79684	0.623000	0.24447	1.009000	0.39289	0.533000	0.62120	TTT		0.582	LTB4R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073198.4			3	193	0	0	0	1	0	3	193					C	24785074	T	C	24785074	3	2	129	1	0	0	0	0	1	0	0	0	9071	1609	56	3	219	3	LTB4R	14	24785074	Missense_Mutation	SNP	T	TCGA-DJ-A3UX-01A-11D-A22D-08	1261605	24785074	82564466	14	2774											
HAPLN3	145864	broad.mit.edu	37	chr15	89424649	89424649	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtcaatgacctcacagcgGtaacgcccatagtcctccag	8	16	2	1			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr15:89424649G>A	ENST00000359595.3	-	3	646	c.432C>T	c.(430-432)taC>taT	p.Y144Y	HAPLN3_ENST00000562889.1_Silent_p.Y206Y	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	144	Ig-like V-type. {ECO:0000305}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)				Hyaluronan(DB08818)	CCTCACAGCGGTAACGCCCAT	0.617																																						ENST00000359595.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17						c.(430-432)taC>taT		hyaluronan and proteoglycan link protein 3							107	81	90					15																	89424649		2200	4299	6499	SO:0001819	synonymous_variant	145864				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr15:89424649G>A	AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511		"Immunoglobulin superfamily / V-set domain containing"	21446	protein-coding gene	gene with protein product			"extracellular link domain containing, 1"	EXLD1		12663660	Standard	NM_178232		Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680	ENST00000359595.3:c.432C>T	15.37:g.89424649G>A						HAPLN3_ENST00000562889.1_Silent_p.Y206Y	p.Y144Y	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN			3	646	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		144			Ig-like V-type.		A8K7P0	Silent	SNP	ENST00000359595.3	37	c.432C>T	CCDS10346.1																																																																																				0.617	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	NM_178232		4	141	0	0	0	1	0	4	141					A	89424649	G	A	89424649	2	1	129	1	0	0	0	0	0	0	0	1	6956	1256	44	2		2	HAPLN3	15	89424649	Silent	SNP	G	TCGA-DJ-A3UX-01A-11D-A22D-08		89424649	13106743	15	2775											
KSR1	8844	broad.mit.edu	37	chr17	25909679	25909679	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttggtccacaggaggggaGcacaaggaggactccagttg	15	9	1	0			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr17:25909679G>A	ENST00000319524.6	+	4	528	c.528G>A	c.(526-528)gaG>gaA	p.E176E	KSR1_ENST00000398988.3_Silent_p.E39E|KSR1_ENST00000509603.2_Silent_p.E176E|KSR1_ENST00000268763.6_Silent_p.E39E			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	176					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)			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)		CAGGAGGGGAGCACAAGGAGG	0.612																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000398988.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(115-117)gaG>gaA		kinase suppressor of ras 1							39	42	41					17																	25909679		2000	4183	6183	SO:0001819	synonymous_variant	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25909679G>A	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.528G>A	17.37:g.25909679G>A						KSR1_ENST00000509603.2_Silent_p.E176E|KSR1_ENST00000319524.6_Silent_p.E176E|KSR1_ENST00000268763.6_Silent_p.E39E	p.E39E	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	562	+	Lung NSC(42;0.00836)		174					F8WEA9|H7BYU0|Q13476	Silent	SNP	ENST00000319524.6	37	c.117G>A																																																																																					0.612	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		3	93	0	0	0	1	0	3	93					A	25909679	G	A	25909679	2	1	129	1	0	0	0	0	0	0	0	1	8581	962	34	2		2	KSR1	17	25909679	Silent	SNP	G	TCGA-DJ-A3UX-01A-11D-A22D-08		25909679	55285531	16	2776											
CHD6	84181	broad.mit.edu	37	chr20	40118565	40118565	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaggggcgataatgagaaaAgggccgtggattcctctcag	15	7	1	2			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr20:40118565A>G	ENST00000373233.3	-	12	1710	c.1533T>C	c.(1531-1533)ccT>ccC	p.P511P	CHD6_ENST00000309279.7_Silent_p.P511P	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	511	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TAATGAGAAAAGGGCCGTGGA	0.488																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(1531-1533)ccT>ccC		chromodomain helicase DNA binding protein 6							130	133	132					20																	40118565		2203	4300	6503	SO:0001819	synonymous_variant	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40118565A>G	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.1533T>C	20.37:g.40118565A>G						CHD6_ENST00000309279.7_Silent_p.P511P	p.P511P	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			12	1710	-		Myeloproliferative disorder(115;0.00425)	511			Helicase ATP-binding.		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	c.1533T>C	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	A	6.158	0.397287	0.11638	.	.	ENSG00000124177	ENST00000440697	.	.	.	5.27	-3.41	0.04839	.	.	.	.	.	T	0.38692	0.1050	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34700	-0.9818	4	.	.	.	-11.2335	1.7933	0.03056	0.1515:0.1304:0.3323:0.3858	.	.	.	.	P	214	.	.	L	-	2	0	CHD6	39551979	0.739000	0.28196	0.988000	0.46212	0.553000	0.35397	-0.101000	0.10973	-0.474000	0.06862	-1.487000	0.00979	CTT		0.488	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			3	163	0	0	0	1	0	3	163					G	40118565	A	G	40118565	2	3	129	1	0	0	0	0	0	0	0	1	3329	59	3	3		3	CHD6	20	40118565	Silent	SNP	A	TCGA-DJ-A3UX-01A-11D-A22D-08		40118565	22906955	17	2777											
RRP1	8568	broad.mit.edu	37	chr21	45211274	45211274	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgaaggtgtggaaaggactGttttattgcatgtggatgca	14	4	0	1			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr21:45211274G>T	ENST00000497547.1	+	2	294	c.177G>T	c.(175-177)ctG>ctT	p.L59L		NM_003683.5	NP_003674.1	P05386	RLA1_HUMAN	ribosomal RNA processing 1	0					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		GGAAAGGACTGTTTTATTGCA	0.547																																						ENST00000497547.1																			0				central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8						c.(175-177)ctG>ctT		ribosomal RNA processing 1							114	116	116					21																	45211274		2086	4210	6296	SO:0001819	synonymous_variant	8568				rRNA processing	nucleolus|preribosome, small subunit precursor		g.chr21:45211274G>T	U79775	CCDS42951.1	21q22.3	2013-07-02	2013-07-02		ENSG00000160214	ENSG00000160214			18785	protein-coding gene	gene with protein product	"DNA segment on chromosome 21 (unique) 2056 expressed sequence", "Nnp1 homolog, nucleolar protein (Drosophila)"	610653	"ribosomal RNA processing 1 homolog (S. cerevisiae)"			10830953, 10341208	Standard	NM_003683		Approved	NNP-1, Nop52, NOP52, RRP1A, D21S2056E	uc002zds.2	P56182	OTTHUMG00000086884	ENST00000497547.1:c.177G>T	21.37:g.45211274G>T							p.L59L	NM_003683.5	NP_003674.1	P56182	RRP1_HUMAN		COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)	2	294	+			59					A6NIB2	Silent	SNP	ENST00000497547.1	37	c.177G>T	CCDS42951.1																																																																																				0.547	RRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195680.1	NM_003683		6	118	1	0	0.0293803	1	0.0300636	6	118					T	45211274	G	T	45211274	2	4	129	1	0	0	0	0	0	0	0	1	13685	1364	48	4		4	RRP1	21	45211274	Silent	SNP	G	TCGA-DJ-A3UX-01A-11D-A22D-08		45211274	2918621	18	2778											
SBF1	6305	broad.mit.edu	37	chr22	50900410	50900410	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagccccttgaggtggtcGctggtgaccccactctccgt	12	15	1	2	rs576829341	byFrequency	TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr22:50900410G>A	ENST00000390679.3	-	20	2719	c.2535C>T	c.(2533-2535)agC>agT	p.S845S	SBF1_ENST00000348911.6_Silent_p.S846S|SBF1_ENST00000380817.3_Silent_p.S845S			O95248	MTMR5_HUMAN	SET binding factor 1	845					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TGAGGTGGTCGCTGGTGACCC	0.617													G|||	3	0.000599042	0	0	5008	,	,		17947	0		0	False		,,,				2504	0.0031					ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(2533-2535)agC>agT		SET binding factor 1							83	97	92					22																	50900410		2110	4217	6327	SO:0001819	synonymous_variant	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50900410G>A	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	10542	protein-coding gene	gene with protein product	"myotubularin related 5", "DENN/MADD domain containing 7A"	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.2535C>T	22.37:g.50900410G>A						SBF1_ENST00000348911.6_Silent_p.S846S|SBF1_ENST00000390679.3_Silent_p.S845S	p.S845S	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	20	2718	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	845					A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Silent	SNP	ENST00000390679.3	37	c.2535C>T																																																																																					0.617	SBF1-201	KNOWN	basic	protein_coding	protein_coding				3	134	0	0	0	1	0	3	134					A	50900410	G	A	50900410	2	1	129	1	0	0	0	0	0	0	0	1	13858	1078	38	1		1	SBF1	22	50900410	Silent	SNP	G	TCGA-DJ-A3UX-01A-11D-A22D-08		50900410	404156	19	2779											
PRAMEF11	440560	broad.mit.edu	37	chr1	12887686	12887686	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccagcacttgaagtttccaTctcctgtgggaaaatagagg	10	9	1	2	rs59802947	byFrequency	TCGA-DJ-A3UY-01A-21D-A22D-08	TCGA-DJ-A3UY-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e37b8756-66b6-4914-a3f4-0c6670bfe247	f2bcc28c-91eb-4698-8590-8b4109e059da	g.chr1:12887686T>C	ENST00000535591.1	-	3	366	c.171A>G	c.(169-171)agA>agG	p.R57R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	57					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.R57R(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAGTTTCCATCTCCTGTGGG	0.468													.|||	5	0.000998403	8e-04	0	5008	,	,		21622	0.001		0	False		,,,				2504	0.0031					ENST00000535591.1																			1	Substitution - coding silent(1)	p.R57R(1)	endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(169-171)agA>agG		PRAME family member 11																																				SO:0001819	synonymous_variant	440560							g.chr1:12887686T>C	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"-"	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.171A>G	1.37:g.12887686T>C							p.R57R	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	366	-			57						Silent	SNP	ENST00000535591.1	37	c.171A>G	CCDS53268.1																																																																																				0.468	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		4	131	0	0	0	0.080935	0	4	131					C	12887686	T	C	12887686	2	2	130	1	0	0	0	0	0	0	0	1	12427	1432	50	3		3	PRAMEF11	1	12887686	Silent	SNP	T	TCGA-DJ-A3UY-01A-21D-A22D-08		12887686	236362935	1	2780											
C3orf15	89876	broad.mit.edu	37	chr3	119469814	119469814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcggaaacatattcttgCagcccatcagatcatccaca	6	13	3	1			TCGA-DJ-A3UY-01A-21D-A22D-08	TCGA-DJ-A3UY-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e37b8756-66b6-4914-a3f4-0c6670bfe247	f2bcc28c-91eb-4698-8590-8b4109e059da	g.chr3:119469814C>T	ENST00000273390.5	+	17	2251	c.2174C>T	c.(2173-2175)gCa>gTa	p.A725V	RP11-169N13.4_ENST00000489428.2_RNA|MAATS1_ENST00000472117.1_3'UTR	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	561						mitochondrion (GO:0005739)											CATATTCTTGCAGCCCATCAG	0.413																																						ENST00000273390.5																			0											c.(2173-2175)gCa>gTa		MYCBP-associated, testis expressed 1							123	112	116					3																	119469814		2203	4300	6503	SO:0001583	missense	89876							g.chr3:119469814C>T	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"AMY-1-associating protein expressed in testis 1", "MYCBP-binding protein", "spermatogenesis associated 26"	609910	"chromosome 3 open reading frame 15", "MYCBP/AMY-1-associated, testis expressed 1"	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.2174C>T	3.37:g.119469814C>T	ENSP00000273390:p.Ala725Val					MAATS1_ENST00000472117.1_3'UTR	p.A725V	NM_033364.3	NP_203528.2					17	2251	+								A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	c.2174C>T	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.527319	0.85706	.	.	ENSG00000183833	ENST00000273390	T	0.28069	1.63	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.54919	0.1888	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.996;0.982;0.998	T	0.58741	-0.7583	10	0.87932	D	0	-6.9142	15.2333	0.73407	0.0:1.0:0.0:0.0	.	561;663;725	Q7Z4T9;Q7Z4T9-3;Q7Z4T9-7	AAT1_HUMAN;.;.	V	725	ENSP00000273390:A725V	ENSP00000273390:A725V	A	+	2	0	C3orf15	120952504	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	4.619000	0.61218	2.522000	0.85027	0.591000	0.81541	GCA		0.413	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		3	54	0	0	0	0.014758	0	3	54					T	119469814	C	T	119469814	3	4	130	1	0	0	0	0	1	0	0	0	2209	710	25	2	2240	2	C3orf15	3	119469814	Missense_Mutation	SNP	C	TCGA-DJ-A3UY-01A-21D-A22D-08		119469814	78552616	2	2781											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3UY-01A-21D-A22D-08	TCGA-DJ-A3UY-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e37b8756-66b6-4914-a3f4-0c6670bfe247	f2bcc28c-91eb-4698-8590-8b4109e059da	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		20	56	0	0	0	0.069288	0	20	56					T	140453136	A	T	140453136	3	4	130	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3UY-01A-21D-A22D-08		140453136	18685527	3	2782											
VWA2	340706	broad.mit.edu	37	chr10	116045781	116045781	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactctggacggcttcctgCgggccaaagtcttcgtgaag	12	13	2	1			TCGA-DJ-A3UY-01A-21D-A22D-08	TCGA-DJ-A3UY-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e37b8756-66b6-4914-a3f4-0c6670bfe247	f2bcc28c-91eb-4698-8590-8b4109e059da	g.chr10:116045781C>T	ENST00000392982.3	+	11	1331	c.1081C>T	c.(1081-1083)Cgg>Tgg	p.R361W	VWA2_ENST00000603594.1_Missense_Mutation_p.R361W			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	361	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		CGGCTTCCTGCGGGCCAAAGT	0.652																																						ENST00000603594.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26						c.(1081-1083)Cgg>Tgg		von Willebrand factor A domain containing 2							72	76	74					10																	116045781		2203	4300	6503	SO:0001583	missense	340706					extracellular region		g.chr10:116045781C>T	AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.1081C>T	10.37:g.116045781C>T	ENSP00000376708:p.Arg361Trp					VWA2_ENST00000392982.3_Missense_Mutation_p.R361W	p.R361W	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN		Epithelial(162;0.036)|all cancers(201;0.0793)	11	1402	+			361			VWFA 2.		A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	ENST00000392982.3	37	c.1081C>T		.	.	.	.	.	.	.	.	.	.	C	22.5	4.293428	0.80914	.	.	ENSG00000165816	ENST00000392982;ENST00000298715	D	0.83755	-1.76	5.7	2.64	0.31445	von Willebrand factor, type A (3);	0.335009	0.31589	N	0.007382	D	0.88005	0.6321	M	0.79475	2.455	0.30867	N	0.732839	D;D;D	0.89917	1.0;1.0;1.0	D;D;P	0.65323	0.923;0.934;0.891	D	0.85094	0.0953	10	0.66056	D	0.02	.	7.4549	0.27261	0.1256:0.6853:0.1213:0.0679	.	57;361;361	Q5GFL6-3;Q5GFL6;Q5GFL6-2	.;VWA2_HUMAN;.	W	361	ENSP00000376708:R361W	ENSP00000298715:R361W	R	+	1	2	VWA2	116035771	1.000000	0.71417	0.986000	0.45419	0.895000	0.52256	3.791000	0.55469	0.729000	0.32403	0.563000	0.77884	CGG		0.652	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3	NM_198496		4	170	0	0	0	0.014758	0	4	170					T	116045781	C	T	116045781	3	4	130	1	0	0	0	0	1	0	0	0	17236	759	27	1	1119	1	VWA2	10	116045781	Missense_Mutation	SNP	C	TCGA-DJ-A3UY-01A-21D-A22D-08		116045781	19488966	4	2783											
KRT3	3850	broad.mit.edu	37	chr12	53189414	53189431	+	In_Frame_Del	DEL	CCAAAGCCACCAGCCCCT	CCAAAGCCACCAGCCCCT	-													caccaaagccaccaggaccaCcaaagccaccagcccctcca					rs148531142|rs184322044|rs142692092		TCGA-DJ-A3UY-01A-21D-A22D-08	TCGA-DJ-A3UY-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e37b8756-66b6-4914-a3f4-0c6670bfe247	f2bcc28c-91eb-4698-8590-8b4109e059da	g.chr12:53189414_53189431delCCAAAGCCACCAGCCCCT	ENST00000417996.2	-	1	470_487	c.396_413delAGGGGCTGGTGGCTTTGG	c.(394-414)ggaggggctggtggctttggt>ggt	p.132_138GGAGGFG>G	KRT3_ENST00000309505.3_In_Frame_Del_p.132_138GGAGGFG>G	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	132	Gly-rich.|Head.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						accaggaccaccaaagccaccagcccctccaaagccac	0.633																																						ENST00000417996.2																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						c.(394-414)ggt>gg		keratin 3				595,3499		80,435,1532						-0.9	0.2			185	257,7693		40,177,3758	no	coding	KRT3	NM_057088.2		120,612,5290	A1A1,A1R,RR		3.2327,14.5335,7.0741				852,11192				SO:0001651	inframe_deletion	3850				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53189414_53189431delCCAAAGCCACCAGCCCCT		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"-", "Intermediate filaments type II, keratins (basic)"	6440	protein-coding gene	gene with protein product	"keratin, type II cytoskeletal 3", "cytokeratin 3"	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.396_413delAGGGGCTGGTGGCTTTGG	12.37:g.53189414_53189431delCCAAAGCCACCAGCCCCT	ENSP00000413479:p.Gly132_Phe137del					KRT3_ENST00000309505.3_In_Frame_Del_p.GGAGGFG132del	p.GGAGGFG132del	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN			1	470_487	-			132			Gly-rich.|Head.		A6NIS2|Q701L8	In_Frame_Del	DEL	ENST00000417996.2	37	c.396_413delAGGGGCTGGTGGCTTTGG	CCDS44895.1																																																																																				0.633	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		5	6						5	6	---	---	---	---	-	53189431	CCAAAGCCACCAGCCCCT	-	53189414	7	5	130	1	0	1	0	1	0	0	0	0	8466	507	18	0	1509	0	KRT3	12	53189414	In_Frame_Del	DEL	CCAAAGCCACCAGCCCCT	TCGA-DJ-A3UY-01A-21D-A22D-08		53189414	80662481	5	2784											
TUBGCP4	27229	broad.mit.edu	37	chr15	43678506	43678506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgaacaggtggtggatcGcattcgcagcactgtggctg	14	9	0	1	rs200238154		TCGA-DJ-A3UY-01A-21D-A22D-08	TCGA-DJ-A3UY-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e37b8756-66b6-4914-a3f4-0c6670bfe247	f2bcc28c-91eb-4698-8590-8b4109e059da	g.chr15:43678506G>A	ENST00000260383.7	+	9	1246	c.992G>A	c.(991-993)cGc>cAc	p.R331H	TUBGCP4_ENST00000399460.3_Missense_Mutation_p.R195H|TUBGCP4_ENST00000564079.1_Missense_Mutation_p.R331H			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	331					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		GTGGTGGATCGCATTCGCAGC	0.368													G|||	1	0.000199681	8e-04	0	5008	,	,		8210	0		0	False		,,,				2504	0					ENST00000564079.1																			0				breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21						c.(991-993)cGc>cAc		tubulin, gamma complex associated protein 4		G	HIS/ARG	0,3856		0,0,1928	98	88	91		992	4.8	0.8	15		91	1,8265		0,1,4132	no	missense	TUBGCP4	NM_014444.2	29	0,1,6060	AA,AG,GG		0.0121,0.0,0.0082	possibly-damaging	331/667	43678506	1,12121	1928	4133	6061	SO:0001583	missense	27229				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton	g.chr15:43678506G>A	AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.992G>A	15.37:g.43678506G>A	ENSP00000260383:p.Arg331His					TUBGCP4_ENST00000399460.3_Missense_Mutation_p.R195H|TUBGCP4_ENST00000260383.7_Missense_Mutation_p.R331H	p.R331H	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN		GBM - Glioblastoma multiforme(94;3.53e-07)	9	1232	+		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)	331					B3KNK6|Q969X3|Q9NVF0	Missense_Mutation	SNP	ENST00000260383.7	37	c.992G>A		.	.	.	.	.	.	.	.	.	.	G	16.79	3.221640	0.58560	0.0	1.21E-4	ENSG00000137822	ENST00000260383;ENST00000399460	T;T	0.08896	3.04;3.04	5.74	4.82	0.62117	.	0.315193	0.40064	N	0.001183	T	0.07413	0.0187	N	0.22421	0.69	0.34262	D	0.680005	B;B	0.17038	0.02;0.016	B;B	0.10450	0.005;0.003	T	0.09818	-1.0657	10	0.48119	T	0.1	-2.4548	14.2769	0.66187	0.0714:0.0:0.9286:0.0	.	331;331	Q9UGJ1;Q9UGJ1-2	GCP4_HUMAN;.	H	331;195	ENSP00000260383:R331H;ENSP00000382387:R195H	ENSP00000260383:R331H	R	+	2	0	TUBGCP4	41465798	1.000000	0.71417	0.763000	0.31416	0.978000	0.69477	6.547000	0.73892	1.571000	0.49722	0.561000	0.74099	CGC		0.368	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	NM_014444		23	78	0	0	0	0.045705	0	23	78					A	43678506	G	A	43678506	3	1	130	1	0	0	0	0	1	0	0	0	16765	1087	38	1	1026	1	TUBGCP4	15	43678506	Missense_Mutation	SNP	G	TCGA-DJ-A3UY-01A-21D-A22D-08		43678506	58852886	6	2785											
FRMD5	84978	broad.mit.edu	37	chr15	44198149	44198149	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtcataatccccaatctccGctttcaaaaggaaggtggaa	8	10	3	0			TCGA-DJ-A3UY-01A-21D-A22D-08	TCGA-DJ-A3UY-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e37b8756-66b6-4914-a3f4-0c6670bfe247	f2bcc28c-91eb-4698-8590-8b4109e059da	g.chr15:44198149G>T	ENST00000417257.1	-	6	604	c.428C>A	c.(427-429)gCg>gAg	p.A143E	FRMD5_ENST00000484674.1_Splice_Site_p.A54E|FRMD5_ENST00000402883.1_Splice_Site_p.A143E	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	143	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		CCCAATCTCCGCTTTCAAAAG	0.418																																						ENST00000417257.1																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.e6-1		FERM domain containing 5							78	71	73					15																	44198149		2198	4298	6496	SO:0001630	splice_region_variant	84978					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr15:44198149G>T	BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877			28214	protein-coding gene	gene with protein product							Standard	XM_005254729		Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000417257.1:c.428-1C>A	15.37:g.44198149G>T						FRMD5_ENST00000402883.1_Splice_Site_p.A143_splice|FRMD5_ENST00000484674.1_Splice_Site_p.A54_splice	p.A143_splice	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)	6	604	-		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)	143			FERM.		Q8NBG4	Splice_Site	SNP	ENST00000417257.1	37	c.427_splice	CCDS10107.2	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153170	0.78114	.	.	ENSG00000171877	ENST00000417257;ENST00000402883;ENST00000449926	T;T;T	0.79845	-1.31;-1.31;-1.31	4.91	4.91	0.64330	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.88691	0.6505	M	0.69185	2.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89549	0.3798	10	0.87932	D	0	.	17.1906	0.86878	0.0:0.0:1.0:0.0	.	143;143	Q7Z6J6;B5MC67	FRMD5_HUMAN;.	E	143;143;109	ENSP00000403067:A143E;ENSP00000384142:A143E;ENSP00000399684:A109E	ENSP00000384142:A143E	A	-	2	0	FRMD5	41985441	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.147000	0.94646	2.723000	0.93209	0.655000	0.94253	GCG		0.418	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133879.1	NM_032892	Missense_Mutation	3	36	1	0	0.115264	0.115264	0.166492	3	36					T	44198149	G	T	44198149	5	4	130	1	0	0	0	0	0	0	1	0	6053	1101	38	4	1320	4	FRMD5	15	44198149	Splice_Site	SNP	G	TCGA-DJ-A3UY-01A-21D-A22D-08	519643	44198149	58333243	7	2786											
MYOM1	8736	broad.mit.edu	37	chr18	3067403	3067403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgtatttgcccgagtcagCggtgctcacgccgttgatgg	13	13	2	1			TCGA-DJ-A3UY-01A-21D-A22D-08	TCGA-DJ-A3UY-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e37b8756-66b6-4914-a3f4-0c6670bfe247	f2bcc28c-91eb-4698-8590-8b4109e059da	g.chr18:3067403C>T	ENST00000356443.4	-	38	5248	c.4915G>A	c.(4915-4917)Gct>Act	p.A1639T	MYOM1_ENST00000400569.3_Missense_Mutation_p.A1639T|MYOM1_ENST00000261606.7_Missense_Mutation_p.A1543T	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1639	Ig-like C2-type 5.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CCCGAGTCAGCGGTGCTCACG	0.587																																						ENST00000356443.4																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(4915-4917)Gct>Act		myomesin 1							78	81	80					18																	3067403		2203	4300	6503	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3067403C>T	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.4915G>A	18.37:g.3067403C>T	ENSP00000348821:p.Ala1639Thr					MYOM1_ENST00000400569.3_Missense_Mutation_p.A1639T|MYOM1_ENST00000261606.7_Missense_Mutation_p.A1543T	p.A1639T	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN			38	5248	-			1639			Ig-like C2-type 5.		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.4915G>A	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	C	4.890	0.165463	0.09339	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.41065	1.01;1.01;1.01	5.79	-2.98	0.05513	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.071270	0.07163	N	0.851018	T	0.19525	0.0469	N	0.17082	0.46	0.09310	N	1	B;B	0.16802	0.009;0.019	B;B	0.12837	0.005;0.008	T	0.20306	-1.0279	10	0.21014	T	0.42	.	0.9377	0.01348	0.3828:0.2518:0.1665:0.1989	.	1543;1639	P52179-2;P52179	.;MYOM1_HUMAN	T	1639;1639;1543	ENSP00000348821:A1639T;ENSP00000383413:A1639T;ENSP00000261606:A1543T	ENSP00000261606:A1543T	A	-	1	0	MYOM1	3057403	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.421000	0.07053	-0.263000	0.09378	-0.136000	0.14681	GCT		0.587	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		4	100	0	0	0	0.021553	0	4	100					T	3067403	C	T	3067403	3	4	130	1	0	0	0	0	1	0	0	0	10091	768	27	1	146	1	MYOM1	18	3067403	Missense_Mutation	SNP	C	TCGA-DJ-A3UY-01A-21D-A22D-08		3067403	75009845	8	2787											
ZBED1	9189	broad.mit.edu	37	chrX	2406764	2406764	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcctggtccaggccccacTccccctcgtcctggtcctcg	9	21	0	0			TCGA-DJ-A3UY-01A-21D-A22D-08	TCGA-DJ-A3UY-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e37b8756-66b6-4914-a3f4-0c6670bfe247	f2bcc28c-91eb-4698-8590-8b4109e059da	g.chrX:2406764T>C	ENST00000381223.4	-	2	2200	c.1997A>G	c.(1996-1998)gAg>gGg	p.E666G	DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.E666G|ZBED1_ENST00000381218.3_Missense_Mutation_p.E666G|ZBED1_ENST00000515319.1_Intron	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	666					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		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)				CAGGCCCCACTCCCCCTCGTC	0.647																																						ENST00000381223.4																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(1996-1998)gAg>gGg		zinc finger, BED-type containing 1							123	117	119					X																	2406764		2203	4296	6499	SO:0001583	missense	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2406764T>C	AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"Pseudoautosomal regions / PAR1", "Zinc fingers, BED-type"	447	protein-coding gene	gene with protein product		300178	"Ac-like transposable element"	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.1997A>G	X.37:g.2406764T>C	ENSP00000370621:p.Glu666Gly					DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381218.3_Missense_Mutation_p.E666G|RP11-325D5.3_ENST00000515319.1_RNA|ZBED1_ENST00000381222.2_Missense_Mutation_p.E666G	p.E666G	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN			2	2200	-		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)	666					Q96BY4	Missense_Mutation	SNP	ENST00000381223.4	37	c.1997A>G	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	T	10.23	1.293964	0.23564	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218	.	.	.	2.93	2.93	0.34026	.	0.000000	0.41396	U	0.000900	T	0.63260	0.2496	.	.	.	0.09310	N	1	D	0.71674	0.998	D	0.70227	0.968	T	0.54695	-0.8255	8	0.62326	D	0.03	.	10.5576	0.45127	0.0:0.0:0.0:1.0	.	666	O96006	ZBED1_HUMAN	G	666	.	ENSP00000370616:E666G	E	-	2	0	ZBED1	2416764	0.998000	0.40836	0.762000	0.31397	0.518000	0.34316	2.741000	0.47426	0.886000	0.36113	0.347000	0.21830	GAG		0.647	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729		3	98	0	0	0	0.014758	0	3	98					C	2406764	T	C	2406764	3	2	130	1	0	0	0	0	1	0	0	0	17514	1551	54	3	91	3	ZBED1	23	2406764	Missense_Mutation	SNP	T	TCGA-DJ-A3UY-01A-21D-A22D-08		2406764	152863796	9	2788											
ELOVL1	64834	broad.mit.edu	37	chr1	43829648	43829648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgaagtgcacggggcagcCgcttgcccttggtataagag	15	10	0	2			TCGA-DJ-A3UZ-01A-11D-A22Z-08	TCGA-DJ-A3UZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae85c0d-26ad-4f05-a3cf-0d5f786135ac	2ee5b1de-ff12-4dbc-818f-3bf5d425297d	g.chr1:43829648C>T	ENST00000372458.3	-	8	896	c.779G>A	c.(778-780)cGg>cAg	p.R260Q	ELOVL1_ENST00000413844.2_Missense_Mutation_p.R233Q|ELOVL1_ENST00000470769.1_5'UTR	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	Q9BW60	ELOV1_HUMAN	ELOVL fatty acid elongase 1	260					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)	p.R260Q(1)		endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACGGGGCAGCCGCTTGCCCTT	0.512																																						ENST00000372458.3																			1	Substitution - Missense(1)	p.R260Q(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4						c.(778-780)cGg>cAg		ELOVL fatty acid elongase 1							99	95	97					1																	43829648		2203	4300	6503	SO:0001583	missense	64834				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	fatty acid elongase activity|protein binding	g.chr1:43829648C>T	AK001653	CCDS485.1, CCDS57987.1	1p34	2011-05-25	2011-05-25		ENSG00000066322	ENSG00000066322			14418	protein-coding gene	gene with protein product		611813	"elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1"				Standard	NM_022821		Approved	Ssc1	uc031pmf.1	Q9BW60	OTTHUMG00000007422	ENST00000372458.3:c.779G>A	1.37:g.43829648C>T	ENSP00000361536:p.Arg260Gln					ELOVL1_ENST00000413844.2_Missense_Mutation_p.R233Q|ELOVL1_ENST00000470769.1_5'UTR	p.R260Q	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	Q9BW60	ELOV1_HUMAN			8	896	-	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	260					B4DP24|Q53HT2|Q5JUY3|Q8WXU3|Q9NVD9|Q9Y396	Missense_Mutation	SNP	ENST00000372458.3	37	c.779G>A	CCDS485.1	.	.	.	.	.	.	.	.	.	.	C	32	5.175412	0.94807	.	.	ENSG00000066322	ENST00000372458;ENST00000413844	T;T	0.23552	1.93;1.9	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.52322	0.1727	M	0.70903	2.155	0.80722	D	1	D;D	0.89917	0.977;1.0	P;D	0.72338	0.701;0.977	T	0.41088	-0.9528	10	0.38643	T	0.18	-27.9435	19.9295	0.97114	0.0:1.0:0.0:0.0	.	233;260	B4DP24;Q9BW60	.;ELOV1_HUMAN	Q	260;233	ENSP00000361536:R260Q;ENSP00000416024:R233Q	ENSP00000361536:R260Q	R	-	2	0	ELOVL1	43602235	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.695000	0.91970	0.655000	0.94253	CGG		0.512	ELOVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019496.1	NM_022821		3	63	0	0	0	0.150653	0	3	63					T	43829648	C	T	43829648	3	4	131	1	0	0	0	0	1	0	0	0	5073	652	23	1	64	1	ELOVL1	1	43829648	Missense_Mutation	SNP	C	TCGA-DJ-A3UZ-01A-11D-A22Z-08		43829648	205420973	1	2789											
C2orf42	54980	broad.mit.edu	37	chr2	70408639	70408639	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttggtttccggggaggccTgcattgcattcaggaccgag	15	9	1	0			TCGA-DJ-A3UZ-01A-11D-A22Z-08	TCGA-DJ-A3UZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae85c0d-26ad-4f05-a3cf-0d5f786135ac	2ee5b1de-ff12-4dbc-818f-3bf5d425297d	g.chr2:70408639T>C	ENST00000264434.2	-	3	858	c.479A>G	c.(478-480)cAg>cGg	p.Q160R	C2orf42_ENST00000420306.1_Missense_Mutation_p.Q160R|C2orf42_ENST00000470096.1_5'Flank	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	160										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						CGGGGAGGCCTGCATTGCATT	0.562																																						ENST00000264434.2																			0				endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						c.(478-480)cAg>cGg		chromosome 2 open reading frame 42							70	68	69					2																	70408639		2203	4300	6503	SO:0001583	missense	54980							g.chr2:70408639T>C	AK000565	CCDS1899.1	2p14	2011-03-08			ENSG00000115998	ENSG00000115998			26056	protein-coding gene	gene with protein product						12477932	Standard	XM_005264389		Approved	FLJ20558	uc002sgh.3	Q9NWW7	OTTHUMG00000129642	ENST00000264434.2:c.479A>G	2.37:g.70408639T>C	ENSP00000264434:p.Gln160Arg					C2orf42_ENST00000420306.1_Missense_Mutation_p.Q160R	p.Q160R	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN			3	858	-			160					D6W5G3|Q9H629	Missense_Mutation	SNP	ENST00000264434.2	37	c.479A>G	CCDS1899.1	.	.	.	.	.	.	.	.	.	.	T	11.25	1.582445	0.28180	.	.	ENSG00000115998	ENST00000264434;ENST00000420306;ENST00000447804	T;T	0.48836	0.8;0.8	4.96	4.96	0.65561	.	0.185137	0.48767	D	0.000163	T	0.30792	0.0776	L	0.40543	1.245	0.33776	D	0.623671	P	0.40476	0.718	B	0.35353	0.201	T	0.35822	-0.9773	10	0.07482	T	0.82	-15.0316	9.1101	0.36723	0.1633:0.0:0.0:0.8367	.	160	Q9NWW7	CB042_HUMAN	R	160	ENSP00000264434:Q160R;ENSP00000404515:Q160R	ENSP00000264434:Q160R	Q	-	2	0	C2orf42	70262143	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.429000	0.52800	2.082000	0.62665	0.397000	0.26171	CAG		0.562	C2orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251840.1	NM_017880		3	78	0	0	0	0.115264	0	3	78					C	70408639	T	C	70408639	3	2	131	1	0	0	0	0	1	0	0	0	2166	1580	55	3	1277	3	C2orf42	2	70408639	Missense_Mutation	SNP	T	TCGA-DJ-A3UZ-01A-11D-A22Z-08		70408639	172790734	2	2790											
OR5H1	26341	broad.mit.edu	37	chr3	97851900	97851900	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcttggcaacgatggcatAtgatcgctatgtagccatat	9	9	1	1			TCGA-DJ-A3UZ-01A-11D-A22Z-08	TCGA-DJ-A3UZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae85c0d-26ad-4f05-a3cf-0d5f786135ac	2ee5b1de-ff12-4dbc-818f-3bf5d425297d	g.chr3:97851900A>G	ENST00000354565.2	+	1	359	c.359A>G	c.(358-360)tAt>tGt	p.Y120C	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						ACGATGGCATATGATCGCTAT	0.393																																						ENST00000354565.2																			0				breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						c.(358-360)tAt>tGt		olfactory receptor, family 5, subfamily H, member 1							135	132	133					3																	97851900		2201	4299	6500	SO:0001583	missense	26341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97851900A>G	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"GPCR / Class A : Olfactory receptors"	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.359A>G	3.37:g.97851900A>G	ENSP00000346575:p.Tyr120Cys					RP11-343D2.11_ENST00000508964.1_RNA	p.Y120C	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN			1	359	+			120						Missense_Mutation	SNP	ENST00000354565.2	37	c.359A>G	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	A	5.647	0.304060	0.10678	.	.	ENSG00000231192	ENST00000354565	T	0.01347	4.99	3.57	3.57	0.40892	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	D	0.000670	T	0.03783	0.0107	M	0.91090	3.175	0.23238	N	0.998065	B	0.33280	0.405	B	0.30782	0.12	T	0.12682	-1.0538	10	0.87932	D	0	.	10.1009	0.42504	1.0:0.0:0.0:0.0	.	120	A6NKK0	OR5H1_HUMAN	C	120	ENSP00000346575:Y120C	ENSP00000346575:Y120C	Y	+	2	0	OR5H1	99334590	1.000000	0.71417	0.997000	0.53966	0.092000	0.18411	2.069000	0.41481	1.481000	0.48307	0.164000	0.16699	TAT		0.393	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		4	195	0	0	0	0.27861	0	4	195					G	97851900	A	G	97851900	3	3	131	1	0	0	0	0	1	0	0	0	11159	449	16	3	361	3	OR5H1	3	97851900	Missense_Mutation	SNP	A	TCGA-DJ-A3UZ-01A-11D-A22Z-08		97851900	100170530	3	2791											
NPNT	255743	broad.mit.edu	37	chr4	106863682	106863684	+	In_Frame_Del	DEL	CCA	CCA	-													agccaacaccaattcctactCcaccaccaccaccacccctg					rs368167746		TCGA-DJ-A3UZ-01A-11D-A22Z-08	TCGA-DJ-A3UZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae85c0d-26ad-4f05-a3cf-0d5f786135ac	2ee5b1de-ff12-4dbc-818f-3bf5d425297d	g.chr4:106863682_106863684delCCA	ENST00000379987.2	+	8	1198_1200	c.982_984delCCA	c.(982-984)ccadel	p.P333del	NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	333	Pro-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AATTCCTACTCCACCACCACCAC	0.522																																						ENST00000379987.2																			0				kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(982-984)del		nephronectin																																				SO:0001651	inframe_deletion	255743				cell differentiation	membrane	calcium ion binding	g.chr4:106863682_106863684delCCA		CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.982_984delCCA	4.37:g.106863691_106863693delCCA	ENSP00000369323:p.Pro333del					NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del	p.P333del	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)	8	1198_1200	+		Hepatocellular(203;0.217)	333			Pro-rich.		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	In_Frame_Del	DEL	ENST00000379987.2	37	c.982_984delCCA	CCDS34046.1																																																																																				0.522	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		7	99						7	99	---	---	---	---	-	106863684	CCA	-	106863682	7	5	131	1	0	1	0	1	0	0	0	0	10590	855	30	0	1161	0	NPNT	4	106863682	In_Frame_Del	DEL	CCA	TCGA-DJ-A3UZ-01A-11D-A22Z-08		106863682	84290594	4	2792											
ETF1	2107	broad.mit.edu	37	chr5	137878559	137878559	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctcttaatgagcttcttgaTcttccagatctccacgttcc	6	13	4	3			TCGA-DJ-A3UZ-01A-11D-A22Z-08	TCGA-DJ-A3UZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae85c0d-26ad-4f05-a3cf-0d5f786135ac	2ee5b1de-ff12-4dbc-818f-3bf5d425297d	g.chr5:137878559T>A	ENST00000360541.5	-	2	270	c.49A>T	c.(49-51)Atc>Ttc	p.I17F	ETF1_ENST00000499810.2_5'UTR|ETF1_ENST00000514005.1_5'Flank|ETF1_ENST00000503014.1_5'Flank	NM_004730.3	NP_004721.1	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	17					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)|translation termination factor activity (GO:0008079)	p.I17V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGCTTCTTGATCTTCCAGATC	0.677																																						ENST00000360541.5																			1	Substitution - Missense(1)	p.I17V(1)	lung(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(49-51)Atc>Ttc		eukaryotic translation termination factor 1							31	31	31					5																	137878559		2203	4300	6503	SO:0001583	missense	2107				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific	g.chr5:137878559T>A	AF095901	CCDS4207.1, CCDS75313.1, CCDS75314.1	5q31.2	2008-02-05			ENSG00000120705	ENSG00000120705			3477	protein-coding gene	gene with protein product	"sup45 (yeast omnipotent suppressor 45) homolog-like 1", "polypeptide chain release factor 1"	600285		SUP45L1, ERF1, ERF		1546371, 7990965	Standard	NM_004730		Approved	eRF1, TB3-1, RF1	uc003ldc.5	P62495	OTTHUMG00000129199	ENST00000360541.5:c.49A>T	5.37:g.137878559T>A	ENSP00000353741:p.Ile17Phe					ETF1_ENST00000499810.2_5'UTR	p.I17F	NM_004730.3	NP_004721.1	P62495	ERF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		2	270	-			17					B2R6B4|D3DQC1|P46055|Q5M7Z7|Q96CG1	Missense_Mutation	SNP	ENST00000360541.5	37	c.49A>T	CCDS4207.1	.	.	.	.	.	.	.	.	.	.	T	33	5.237202	0.95240	.	.	ENSG00000120705	ENST00000360541	.	.	.	5.95	5.95	0.96441	eRF1 domain 1/Pelota-like (1);Peptide Chain Release Factor eRF1/aRF1, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67363	0.2885	L	0.54323	1.7	0.80722	D	1	D	0.60575	0.988	P	0.61003	0.882	T	0.62205	-0.6903	9	0.16420	T	0.52	-3.978	16.0779	0.80980	0.0:0.0:0.0:1.0	.	17	P62495	ERF1_HUMAN	F	17	.	ENSP00000353741:I17F	I	-	1	0	ETF1	137906458	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.498000	0.81546	2.278000	0.76064	0.528000	0.53228	ATC		0.677	ETF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251276.2	NM_004730		3	28	0	0	0	0.150653	0	3	28					A	137878559	T	A	137878559	3	1	131	1	0	0	0	0	1	0	0	0	5268	1435	50	5	1304	5	ETF1	5	137878559	Missense_Mutation	SNP	T	TCGA-DJ-A3UZ-01A-11D-A22Z-08		137878559	43036701	5	2793											
GLCCI1	113263	broad.mit.edu	37	chr7	8062180	8062180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgttctgcgtcatgggggaGtgctgatcaactaaaagagg	15	7	3	2			TCGA-DJ-A3UZ-01A-11D-A22Z-08	TCGA-DJ-A3UZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae85c0d-26ad-4f05-a3cf-0d5f786135ac	2ee5b1de-ff12-4dbc-818f-3bf5d425297d	g.chr7:8062180G>A	ENST00000223145.5	+	3	1234	c.677G>A	c.(676-678)aGt>aAt	p.S226N	GLCCI1_ENST00000474269.1_3'UTR	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	226						cytoplasm (GO:0005737)				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		TCATGGGGGAGTGCTGATCAA	0.373																																						ENST00000223145.5																			0				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25						c.(676-678)aGt>aAt		glucocorticoid induced transcript 1							184	170	175					7																	8062180		2203	4300	6503	SO:0001583	missense	113263							g.chr7:8062180G>A	BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.677G>A	7.37:g.8062180G>A	ENSP00000223145:p.Ser226Asn					GLCCI1_ENST00000474269.1_3'UTR	p.S226N	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)	3	1234	+		Ovarian(82;0.0608)	226					A4D103|Q96FD0	Missense_Mutation	SNP	ENST00000223145.5	37	c.677G>A	CCDS34601.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202065	0.79127	.	.	ENSG00000106415	ENST00000223145;ENST00000430798	.	.	.	4.96	4.96	0.65561	.	0.079998	0.85682	D	0.000000	T	0.76133	0.3945	M	0.62266	1.93	0.48696	D	0.999698	D	0.61080	0.989	D	0.72982	0.979	T	0.77590	-0.2531	9	0.66056	D	0.02	-27.694	15.5927	0.76550	0.0:0.0:1.0:0.0	.	226	Q86VQ1	GLCI1_HUMAN	N	226;114	.	ENSP00000223145:S226N	S	+	2	0	GLCCI1	8028705	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.024000	0.70857	2.734000	0.93682	0.650000	0.86243	AGT		0.373	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324672.1	NM_138426		9	44	0	0	0	0.361761	0	9	44					A	8062180	G	A	8062180	3	1	131	1	0	0	0	0	1	0	0	0	6431	1029	36	2	687	2	GLCCI1	7	8062180	Missense_Mutation	SNP	G	TCGA-DJ-A3UZ-01A-11D-A22Z-08		8062180	151076483	6	2794											
THAP11	57215	broad.mit.edu	37	chr16	67876808	67876808	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcaacagcagcaacaGcagcagcagcagcaacagca	10	14	0	0			TCGA-DJ-A3UZ-01A-11D-A22Z-08	TCGA-DJ-A3UZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae85c0d-26ad-4f05-a3cf-0d5f786135ac	2ee5b1de-ff12-4dbc-818f-3bf5d425297d	g.chr16:67876808G>A	ENST00000303596.1	+	1	596	c.351G>A	c.(349-351)caG>caA	p.Q117Q	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	117	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		agcagcaacagcagcagcagc	0.667																																						ENST00000303596.1																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8						c.(349-351)caG>caA		THAP domain containing 11							22	27	25					16																	67876808		1916	3809	5725	SO:0001819	synonymous_variant	57215				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding	g.chr16:67876808G>A	AB015338	CCDS10847.1	16q22.1	2013-01-25			ENSG00000168286	ENSG00000168286		"THAP (C2CH-type zinc finger) domain containing"	23194	protein-coding gene	gene with protein product		609119				12575992, 8325628	Standard	NM_020457		Approved	HRIHFB2206, CTG-B45d, CTG-B43a	uc002euo.3	Q96EK4	OTTHUMG00000137546	ENST00000303596.1:c.351G>A	16.37:g.67876808G>A						CENPT_ENST00000562787.1_Intron	p.Q117Q	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)	1	596	+		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	117			Gln-rich.		A4UCT5|A8K002|O94795	Silent	SNP	ENST00000303596.1	37	c.351G>A	CCDS10847.1																																																																																				0.667	THAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268879.1	NM_020457		4	117	0	0	0	0.150653	0	4	117					A	67876808	G	A	67876808	2	1	131	1	0	0	0	0	0	0	0	1	15840	962	34	2		2	THAP11	16	67876808	Silent	SNP	G	TCGA-DJ-A3UZ-01A-11D-A22Z-08		67876808	22477945	7	2795											
NUDT17	200035	broad.mit.edu	37	chr1	145586928	145586928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcaggaccagaggtcgggCtcttccatcctcctctagtt	11	13	2	1			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr1:145586928C>T	ENST00000334513.5	-	7	771	c.760G>A	c.(760-762)Gcc>Acc	p.A254T	NUDT17_ENST00000444015.2_5'Flank	NM_001012758.2	NP_001012776.1	P0C025	NUD17_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 17	254							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGAGGTCGGGCTCTTCCATCC	0.527																																						ENST00000334513.5																			0				endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9						c.(760-762)Gcc>Acc		nudix (nucleoside diphosphate linked moiety X)-type motif 17							135	117	123					1																	145586928		2203	4300	6503	SO:0001583	missense	200035						hydrolase activity|metal ion binding	g.chr1:145586928C>T	BC046352	CCDS72865.1	1q21.1	2008-02-05			ENSG00000186364	ENSG00000186364		"Nudix motif containing"	26618	protein-coding gene	gene with protein product						12477932	Standard	NM_001012758		Approved	FLJ34433	uc001eoe.3	P0C025	OTTHUMG00000013752	ENST00000334513.5:c.760G>A	1.37:g.145586928C>T	ENSP00000334437:p.Ala254Thr						p.A254T	NM_001012758.2	NP_001012776.1	P0C025	NUD17_HUMAN			7	771	-	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		254						Missense_Mutation	SNP	ENST00000334513.5	37	c.760G>A	CCDS30830.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.709644	0.30322	.	.	ENSG00000186364	ENST00000334513	.	.	.	4.89	-2.77	0.05877	.	1.090450	0.06909	N	0.807224	T	0.08313	0.0207	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.23332	-1.0191	9	0.20046	T	0.44	-0.0769	1.4242	0.02319	0.1453:0.2847:0.1424:0.4276	.	254	P0C025	NUD17_HUMAN	T	254	.	ENSP00000334437:A254T	A	-	1	0	NUDT17	144298285	0.000000	0.05858	0.000000	0.03702	0.474000	0.32979	-0.750000	0.04808	-0.821000	0.04312	0.650000	0.86243	GCC		0.527	NUDT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038541.3	XM_496395		45	81	0	0	0	1	0	45	81					T	145586928	C	T	145586928	3	4	132	1	0	0	0	0	1	0	0	0	10734	797	28	2	234	2	NUDT17	1	145586928	Missense_Mutation	SNP	C	TCGA-DJ-A3V0-01A-11D-A22Z-08		145586928	103663693	1	2796											
CNNM4	26504	broad.mit.edu	37	chr2	97427918	97427918	+	Frame_Shift_Del	DEL	C	C	-													agcgatgccatcctggacttCaacaccatgtcggagataat							TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr2:97427918delC	ENST00000377075.2	+	1	1280	c.1182delC	c.(1180-1182)ttcfs	p.F394fs		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	394	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						TCCTGGACTTCAACACCATGT	0.502																																						ENST00000377075.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						c.(1180-1182)ttfs		cyclin M4							107	95	99					2																	97427918		2203	4300	6503	SO:0001589	frameshift_variant	26504				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		g.chr2:97427918delC	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"cyclin M4"	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.1182delC	2.37:g.97427918delC	ENSP00000366275:p.Phe394fs						p.F394fs	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN			1	1280	+			394			CBS 1.		B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Frame_Shift_Del	DEL	ENST00000377075.2	37	c.1182delC	CCDS2024.2																																																																																				0.502	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		25	44						25	44	---	---	---	---	-	97427918	C	-	97427918	7	5	132	1	0	1	0	1	0	0	0	0	3615	825	29	0	1184	0	CNNM4	2	97427918	Frame_Shift_Del	DEL	C	TCGA-DJ-A3V0-01A-11D-A22Z-08		97427918	145771455	2	2797											
ANKRD36	375248	broad.mit.edu	37	chr2	97808552	97808552	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatagccacagaaataaaggAtggacaaaaatctgggacag	10	6	1	1			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr2:97808552A>G	ENST00000461153.2	+	8	1125	c.881A>G	c.(880-882)gAt>gGt	p.D294G	ANKRD36_ENST00000420699.2_Missense_Mutation_p.D294G			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	294										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GAAATAAAGGATGGACAAAAA	0.353																																						ENST00000420699.2																			0				endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(880-882)gAt>gGt		ankyrin repeat domain 36							53	49	50					2																	97808552		692	1590	2282	SO:0001583	missense	375248							g.chr2:97808552A>G	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.881A>G	2.37:g.97808552A>G	ENSP00000419530:p.Asp294Gly					ANKRD36_ENST00000461153.2_Missense_Mutation_p.D294G	p.D294G	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			8	1125	+			294					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.881A>G	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	10.55	1.381037	0.24944	.	.	ENSG00000135976	ENST00000461153;ENST00000420699	T;T	0.78246	-1.16;-1.16	1.38	1.38	0.22167	.	.	.	.	.	T	0.69424	0.3109	N	0.08118	0	0.09310	N	0.999994	D	0.57571	0.98	P	0.61658	0.892	T	0.57723	-0.7762	9	0.56958	D	0.05	.	4.9224	0.13876	1.0:0.0:0.0:0.0	.	294	A6QL64	AN36A_HUMAN	G	294	ENSP00000419530:D294G;ENSP00000391950:D294G	ENSP00000391950:D294G	D	+	2	0	ANKRD36	97172279	0.694000	0.27738	0.021000	0.16686	0.017000	0.09413	1.464000	0.35288	0.885000	0.36088	0.136000	0.15936	GAT		0.353	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			4	6	0	0	0	1	0	4	6					G	97808552	A	G	97808552	3	3	132	1	0	0	0	0	1	0	0	0	665	333	12	3	911	3	ANKRD36	2	97808552	Missense_Mutation	SNP	A	TCGA-DJ-A3V0-01A-11D-A22Z-08	380634	97808552	145390821	3	2798											
ANKRD36	375248	broad.mit.edu	37	chr2	97867960	97867960	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtcttctcagaaaccaccagCcttgaaggtaatgaaactcc	7	12	2	3			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr2:97867960C>G	ENST00000461153.2	+	47	3123	c.2879C>G	c.(2878-2880)gCc>gGc	p.A960G	ANKRD36_ENST00000420699.2_Missense_Mutation_p.A960G			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	960										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						AAACCACCAGCCTTGAAGGTA	0.338																																						ENST00000420699.2																			0				endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(2878-2880)gCc>gGc		ankyrin repeat domain 36							119	121	121					2																	97867960		692	1591	2283	SO:0001583	missense	375248							g.chr2:97867960C>G	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2879C>G	2.37:g.97867960C>G	ENSP00000419530:p.Ala960Gly					ANKRD36_ENST00000461153.2_Missense_Mutation_p.A960G	p.A960G	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			47	3123	+			960					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.2879C>G	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	3.791	-0.043619	0.07452	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.80304	-1.36;-1.36	0.673	-1.35	0.09114	.	.	.	.	.	T	0.55321	0.1913	N	0.24115	0.695	0.09310	N	1	P	0.42584	0.784	B	0.25884	0.064	T	0.48080	-0.9066	8	0.32370	T	0.25	.	.	.	.	.	960	A6QL64	AN36A_HUMAN	G	960;960;322	ENSP00000419530:A960G;ENSP00000391950:A960G	ENSP00000391950:A960G	A	+	2	0	ANKRD36	97231687	0.000000	0.05858	0.008000	0.14137	0.010000	0.07245	-0.041000	0.12084	-0.612000	0.05701	0.175000	0.17021	GCC		0.338	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			3	37	0	0	0	1	0	3	37					G	97867960	C	G	97867960	3	3	132	1	0	0	0	0	1	0	0	0	665	739	26	4	3065	4	ANKRD36	2	97867960	Missense_Mutation	SNP	C	TCGA-DJ-A3V0-01A-11D-A22Z-08	59408	97867960	145331413	4	2799											
LRP1B	53353	broad.mit.edu	37	chr2	141773335	141773335	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcacaccagtataatgtgTtggtgtgaaagtccagagtt	10	7	1	2			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr2:141773335T>C	ENST00000389484.3	-	13	3091	c.2120A>G	c.(2119-2121)aAc>aGc	p.N707S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	707					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)		GTATAATGTGTTGGTGTGAAA	0.408										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.(2119-2121)aAc>aGc		low density lipoprotein receptor-related protein 1B							121	115	117					2																	141773335		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141773335T>C	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.2120A>G	2.37:g.141773335T>C	ENSP00000374135:p.Asn707Ser	TSP Lung(27;0.18)					p.N707S	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)	13	3091	-		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)	707					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.2120A>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	2.399	-0.338080	0.05278	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.93488	-3.23	5.75	-0.429	0.12303	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.255418	0.36893	N	0.002358	T	0.79341	0.4429	N	0.03238	-0.38	0.21652	N	0.999602	B	0.02656	0.0	B	0.01281	0.0	T	0.65903	-0.6055	10	0.10636	T	0.68	.	10.1812	0.42968	0.0:0.435:0.0:0.5649	.	707	Q9NZR2	LRP1B_HUMAN	S	707;645	ENSP00000374135:N707S	ENSP00000374135:N707S	N	-	2	0	LRP1B	141489805	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	1.469000	0.35343	-0.021000	0.14009	0.528000	0.53228	AAC		0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		6	61	0	0	0	1	0	6	61					C	141773335	T	C	141773335	3	2	132	1	0	0	0	0	1	0	0	0	8955	1725	60	3	11995	3	LRP1B	2	141773335	Missense_Mutation	SNP	T	TCGA-DJ-A3V0-01A-11D-A22Z-08	43905375	141773335	101426038	5	2800											
CELSR3	1951	broad.mit.edu	37	chr3	48697526	48697526	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgagtgttggcatctgtgaTgttgatgtgcacatagcagt	13	5	1	3			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr3:48697526T>A	ENST00000164024.4	-	1	2822	c.2542A>T	c.(2542-2544)Atc>Ttc	p.I848F	CELSR3_ENST00000544264.1_Missense_Mutation_p.I848F	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	848	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCATCTGTGATGTTGATGTGC	0.507																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(2542-2544)Atc>Ttc		cadherin, EGF LAG seven-pass G-type receptor 3							206	192	197					3																	48697526		2203	4300	6503	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48697526T>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.2542A>T	3.37:g.48697526T>A	ENSP00000164024:p.Ile848Phe					CELSR3_ENST00000164024.4_Missense_Mutation_p.I848F	p.I848F			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	2822	-			848			Cadherin 5.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.2542A>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	T	17.69	3.452290	0.63290	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.58940	0.3;0.3	5.67	5.67	0.87782	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.79992	0.4542	M	0.88842	2.985	0.80722	D	1	D;D	0.89917	0.993;1.0	D;D	0.80764	0.992;0.994	D	0.84202	0.0451	9	0.87932	D	0	.	15.9043	0.79412	0.0:0.0:0.0:1.0	.	848;918	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	F	848	ENSP00000164024:I848F;ENSP00000445694:I848F	ENSP00000164024:I848F	I	-	1	0	CELSR3	48672530	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.482000	0.53186	2.169000	0.68431	0.459000	0.35465	ATC		0.507	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		6	114	0	0	0	1	0	6	114					A	48697526	T	A	48697526	3	1	132	1	0	0	0	0	1	0	0	0	3223	1464	51	5	7536	5	CELSR3	3	48697526	Missense_Mutation	SNP	T	TCGA-DJ-A3V0-01A-11D-A22Z-08		48697526	149324904	6	2801											
IQCG	84223	broad.mit.edu	37	chr3	197616452	197616452	+	Nonstop_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aacacaaaagagaacttggtCacttcttcttgcctctcctc	5	13	4	1			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr3:197616452C>G	ENST00000265239.6	-	12	1755	c.1331G>C	c.(1330-1332)tGa>tCa	p.*444S	IQCG_ENST00000455191.1_Nonstop_Mutation_p.*444S	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	0						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		AGAACTTGGTCACTTCTTCTT	0.423																																						ENST00000265239.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1330-1332)tGa>tCa		IQ motif containing G							338	298	311					3																	197616452		2203	4300	6503	SO:0001578	stop_lost	84223							g.chr3:197616452C>G	AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 9"	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.1331G>C	3.37:g.197616452C>G						IQCG_ENST00000455191.1_Nonstop_Mutation_p.*444S	p.*444S	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)	12	1755	-	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		0					Q9BST2|Q9HAG8	Nonstop_Mutation	SNP	ENST00000265239.6	37	c.1331G>C	CCDS3331.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.276230	0.40294	.	.	ENSG00000114473	ENST00000265239;ENST00000455191	.	.	.	5.21	2.42	0.29668	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.0927	0.30809	0.0:0.7555:0.0:0.2445	.	.	.	.	S	444	.	.	X	-	2	2	IQCG	199100849	0.258000	0.24033	0.497000	0.27552	0.825000	0.46686	0.780000	0.26760	0.435000	0.26365	0.650000	0.86243	TGA		0.423	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1	NM_032263		13	121	0	0	0	1	0	13	121					G	197616452	C	G	197616452	4	3	132	1	0	0	0	0	0	0	0	0	7810	837	29	4	4	4	IQCG	3	197616452	Nonstop_Mutation	SNP	C	TCGA-DJ-A3V0-01A-11D-A22Z-08	148918926	197616452	405978	7	2802											
AIMP1	9255	broad.mit.edu	37	chr4	107258085	107258085	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaaagatgaggggagtAttatctcaagcaatggtcat	11	7	2	2			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr4:107258085A>G	ENST00000442366.1	+	6	715	c.663A>G	c.(661-663)gtA>gtG	p.V221V	AIMP1_ENST00000358008.3_Silent_p.V221V|AIMP1_ENST00000394701.4_Silent_p.V245V	NM_001142415.1	NP_001135887.1	Q12904	AIMP1_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 1	221	tRNA-binding. {ECO:0000255|PROSITE- ProRule:PRU00209}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|negative regulation of endothelial cell proliferation (GO:0001937)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						TGAGGGGAGTATTATCTCAAG	0.388																																						ENST00000394701.4																			0				breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						c.(733-735)gtA>gtG		aminoacyl tRNA synthetase complex-interacting multifunctional protein 1							176	173	174					4																	107258085		2203	4300	6503	SO:0001819	synonymous_variant	9255				angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation	aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|Golgi apparatus|nucleus|transport vesicle	cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding	g.chr4:107258085A>G	U10117	CCDS3674.1, CCDS47121.1	4q24	2009-05-20	2009-05-20	2009-05-20	ENSG00000164022	ENSG00000164022			10648	protein-coding gene	gene with protein product	"EMAP II", "ARS-interacting multifunctional protein 1"	603605	"small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating)"	SCYE1		7929199, 7545917	Standard	NM_004757		Approved	EMAPII, EMAP-2, p43	uc011cfg.2	Q12904	OTTHUMG00000131217	ENST00000442366.1:c.663A>G	4.37:g.107258085A>G						AIMP1_ENST00000358008.3_Silent_p.V221V|AIMP1_ENST00000442366.1_Silent_p.V221V	p.V245V	NM_001142416.1	NP_001135888.1	Q12904	AIMP1_HUMAN			6	776	+			221			tRNA-binding.		B3KTR2|B4E1S7|Q6FG28|Q96CQ9	Silent	SNP	ENST00000442366.1	37	c.735A>G	CCDS3674.1																																																																																				0.388	AIMP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253961.1	NM_004757		4	113	0	0	0	1	0	4	113					G	107258085	A	G	107258085	2	3	132	1	0	0	0	0	0	0	0	1	433	436	16	3		3	AIMP1	4	107258085	Silent	SNP	A	TCGA-DJ-A3V0-01A-11D-A22Z-08		107258085	83896191	8	2803											
PPT2	9374	broad.mit.edu	37	chr6	32122382	32122382	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcgggagcatgctggggcTctgcgggcagcggctccccg	19	13	1	0			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr6:32122382T>G	ENST00000324816.6	+	2	579	c.11T>G	c.(10-12)cTc>cGc	p.L4R	PPT2_ENST00000437001.2_5'UTR|PPT2_ENST00000375137.2_Missense_Mutation_p.L4R|PRRT1_ENST00000211413.5_5'Flank|PPT2_ENST00000445576.2_Missense_Mutation_p.L4R|PPT2_ENST00000361568.2_Missense_Mutation_p.L10R|PPT2_ENST00000493548.1_3'UTR|PRRT1_ENST00000375152.2_5'Flank|PRRT1_ENST00000375150.2_5'Flank|PPT2_ENST00000395523.1_Missense_Mutation_p.L4R|PPT2-EGFL8_ENST00000422437.1_Missense_Mutation_p.L4R|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000375143.2_Missense_Mutation_p.L4R			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2	4					cellular protein modification process (GO:0006464)|macromolecule depalmitoylation (GO:0098734)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	palmitoyl hydrolase activity (GO:0098599)|palmitoyl-(protein) hydrolase activity (GO:0008474)|thiolester hydrolase activity (GO:0016790)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						ATGCTGGGGCTCTGCGGGCAG	0.677																																						ENST00000422437.1																			0											c.(10-12)cTc>cGc									127	154	144					6																	32122382		1508	2703	4211	SO:0001583	missense	0							g.chr6:32122382T>G	AF020543	CCDS4740.1, CCDS4742.1	6p21.3	2012-07-02			ENSG00000221988	ENSG00000221988	3.1.2.22		9326	protein-coding gene	gene with protein product		603298				9341199, 10051407	Standard	NM_138717		Approved		uc003nzw.3	Q9UMR5	OTTHUMG00000031257	ENST00000324816.6:c.11T>G	6.37:g.32122382T>G	ENSP00000320528:p.Leu4Arg					PPT2_ENST00000493548.1_3'UTR|PPT2_ENST00000361568.2_Missense_Mutation_p.L10R|PPT2_ENST00000324816.6_Missense_Mutation_p.L4R|PPT2_ENST00000375137.2_Missense_Mutation_p.L4R|PPT2_ENST00000395523.1_Missense_Mutation_p.L4R|PPT2_ENST00000375143.2_Missense_Mutation_p.L4R|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000445576.2_Missense_Mutation_p.L4R|PPT2_ENST00000437001.2_5'UTR	p.L4R							2	202	+								A2ABC9|A2ABD1|A2ARM7|A2BFH7|A2BFH9|A2BFI2|A8K9L4|B0S868|G8JLE1|O14799|Q0P6K0|Q5JP13|Q5JP14|Q5JQF0|Q5SSX4|Q5SSX5|Q5SSX6|Q5STJ4|Q5STJ5|Q5STJ6|Q6FI80|Q99945	Missense_Mutation	SNP	ENST00000324816.6	37	c.11T>G	CCDS4742.1	.	.	.	.	.	.	.	.	.	.	T	12.91	2.080505	0.36662	.	.	ENSG00000221988	ENST00000414204;ENST00000361568;ENST00000395523;ENST00000445576;ENST00000324816;ENST00000375137;ENST00000375143;ENST00000424499;ENST00000436118;ENST00000453656	T;D;D;D;D;D;D;D;T	0.93488	1.23;-3.12;-3.08;-3.23;-3.08;-3.08;-3.08;-2.05;0.84	4.74	2.23	0.28157	.	0.869350	0.10074	N	0.719316	T	0.70254	0.3203	N	0.08118	0	0.80722	D	1	B;B;P	0.37864	0.0;0.346;0.61	B;B;B	0.26517	0.001;0.07;0.07	T	0.68515	-0.5388	10	0.49607	T	0.09	3.4135	5.0095	0.14304	0.0:0.0983:0.1854:0.7163	.	4;4;10	Q9UMR5-2;Q9UMR5;B0S872	.;PPT2_HUMAN;.	R	4;10;4;4;4;4;4;4;4;4	ENSP00000398847:L4R;ENSP00000354608:L10R;ENSP00000378894:L4R;ENSP00000412381:L4R;ENSP00000320528:L4R;ENSP00000364279:L4R;ENSP00000364285:L4R;ENSP00000409877:L4R;ENSP00000395456:L4R	ENSP00000320528:L4R	L	+	2	0	PPT2	32230360	0.531000	0.26338	0.677000	0.29947	0.591000	0.36615	0.440000	0.21592	0.812000	0.34326	0.402000	0.26972	CTC		0.677	PPT2-207	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076552.4	NM_138717		89	153	0	0	0	1	0	89	153					G	32122382	T	G	32122382	3	3	132	1	0	0	0	0	1	0	0	0	12412	1551	54	5	35	5	PPT2	6	32122382	Missense_Mutation	SNP	T	TCGA-DJ-A3V0-01A-11D-A22Z-08		32122382	138992685	9	2804											
EGFL8	80864	broad.mit.edu	37	chr6	32134984	32134984	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtggacgggcgcacctgcaTggaggggtccccagagcccc	16	15	0	1			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr6:32134984T>C	ENST00000395512.1	+	6	656	c.551T>C	c.(550-552)aTg>aCg	p.M184T	EGFL8_ENST00000333845.6_Missense_Mutation_p.M184T|AGPAT1_ENST00000490711.1_5'Flank|PPT2-EGFL8_ENST00000422437.1_3'UTR			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	184	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						CGCACCTGCATGGAGGGGTCC	0.662																																						ENST00000395512.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						c.(550-552)aTg>aCg		EGF-like-domain, multiple 8							38	44	42					6																	32134984		1509	2707	4216	SO:0001583	missense	80864					extracellular region|integral to membrane	calcium ion binding	g.chr6:32134984T>C	U89336	CCDS4743.1	6p21	2010-06-25	2003-05-21	2003-05-23	ENSG00000241404	ENSG00000241404			13944	protein-coding gene	gene with protein product		609897	"chromosome 6 open reading frame 8"	C6orf8			Standard	NM_030652		Approved	NG3		Q99944	OTTHUMG00000031222	ENST00000395512.1:c.551T>C	6.37:g.32134984T>C	ENSP00000378888:p.Met184Thr					PPT2-EGFL8_ENST00000422437.1_3'UTR|EGFL8_ENST00000333845.6_Missense_Mutation_p.M184T	p.M184T			Q99944	EGFL8_HUMAN			6	656	+			184			EGF-like 2; calcium-binding (Potential).		B0S884|G5E9Q0|Q5JP23|Q5SSX3|Q8IV30	Missense_Mutation	SNP	ENST00000395512.1	37	c.551T>C	CCDS4743.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.649762	0.00785	.	.	ENSG00000241404	ENST00000333845;ENST00000395512;ENST00000432129	T;T;T	0.77098	-1.07;-1.07;2.19	5.21	-2.49	0.06403	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.15825	0.0381	N	0.01015	-1.05	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15636	-1.0430	9	0.14656	T	0.56	0.1282	0.695	0.00897	0.2529:0.2907:0.1145:0.3419	.	184	Q99944	EGFL8_HUMAN	T	184;184;164	ENSP00000333380:M184T;ENSP00000378888:M184T;ENSP00000401694:M164T	ENSP00000333380:M184T	M	+	2	0	EGFL8	32242962	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.670000	0.05256	-0.584000	0.05913	-2.721000	0.00131	ATG		0.662	EGFL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076463.3	NM_030652		23	44	0	0	0	1	0	23	44					C	32134984	T	C	32134984	3	2	132	1	0	0	0	0	1	0	0	0	4965	1464	51	3	569	3	EGFL8	6	32134984	Missense_Mutation	SNP	T	TCGA-DJ-A3V0-01A-11D-A22Z-08	12602	32134984	138980083	10	2805											
AIM1	202	broad.mit.edu	37	chr6	107011755	107011755	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggagcttgaagtccgatggCaggatttacagcaagttgaa	13	6	0	2			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr6:107011755C>A	ENST00000369066.3	+	19	5518	c.5031C>A	c.(5029-5031)ggC>ggA	p.G1677G	AIM1_ENST00000535438.1_Silent_p.G496G	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGTCCGATGGCAGGATTTACA	0.443																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(5029-5031)ggC>ggA		absent in melanoma 1							110	107	108					6																	107011755		2203	4300	6503	SO:0001819	synonymous_variant	202						sugar binding	g.chr6:107011755C>A	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"suppression of tumorigenicity 4", "beta-gamma crystallin domain containing 1"	601797	"suppression of tumorigenicity 4 (malignant melanoma)"	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.5031C>A	6.37:g.107011755C>A						AIM1_ENST00000535438.1_Silent_p.G496G	p.G1677G	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	19	5518	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	1677			Ricin B-type lectin.		Q6P2P0|Q9BTM3	Silent	SNP	ENST00000369066.3	37	c.5031C>A	CCDS34506.1																																																																																				0.443	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			4	84	1	0	1	1	1	4	84					A	107011755	C	A	107011755	2	1	132	1	0	0	0	0	0	0	0	1	430	697	25	4		4	AIM1	6	107011755	Silent	SNP	C	TCGA-DJ-A3V0-01A-11D-A22Z-08	74876771	107011755	64103312	11	2806											
CDK19	23097	broad.mit.edu	37	chr6	110935828	110935828	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgctctgggactgagaggaTccctgaacgctgctttggta	14	9	1	2			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr6:110935828T>C	ENST00000368911.3	-	13	1598	c.1419A>G	c.(1417-1419)ggA>ggG	p.G473G	CDK19_ENST00000323817.3_Silent_p.G413G|CDK19_ENST00000413605.2_Silent_p.G349G	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	473	Ser-rich.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						ACTGAGAGGATCCCTGAACGC	0.537																																						ENST00000368911.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						c.(1417-1419)ggA>ggG		cyclin-dependent kinase 19							156	137	143					6																	110935828		2203	4300	6503	SO:0001819	synonymous_variant	23097						ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr6:110935828T>C	AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"Cyclin-dependent kinases"	19338	protein-coding gene	gene with protein product		614720	"cyclin-dependent kinase (CDC2-like) 11", "cell division cycle 2-like 6 (CDK8-like)"	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.1419A>G	6.37:g.110935828T>C						CDK19_ENST00000323817.3_Silent_p.G413G|CDK19_ENST00000413605.2_Silent_p.G349G	p.G473G	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN			13	1598	-			473			Ser-rich.		Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	Silent	SNP	ENST00000368911.3	37	c.1419A>G	CCDS5085.1																																																																																				0.537	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041804.1	NM_015076		25	50	0	0	0	1	0	25	50					C	110935828	T	C	110935828	2	2	132	1	0	0	0	0	0	0	0	1	3135	1422	50	3		3	CDK19	6	110935828	Silent	SNP	T	TCGA-DJ-A3V0-01A-11D-A22Z-08	3924073	110935828	60179239	12	2807											
ESR1	2099	broad.mit.edu	37	chr6	152415668	152415668	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaccagcggctggcccaGctcctcctcatcctctccca	7	21	2	0			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr6:152415668G>A	ENST00000206249.3	+	7	1880	c.1518G>A	c.(1516-1518)caG>caA	p.Q506Q	ESR1_ENST00000338799.5_Silent_p.Q506Q|ESR1_ENST00000443427.1_Silent_p.Q506Q|ESR1_ENST00000440973.1_Silent_p.Q506Q|ESR1_ENST00000406599.1_Silent_p.Q245Q|ESR1_ENST00000427531.2_Intron|ESR1_ENST00000456483.2_Silent_p.Q394Q	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	506	Interaction with AKAP13.|Self-association.|Steroid-binding.|Transactivation AF-2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|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 transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	GGCTGGCCCAGCTCCTCCTCA	0.562																																						ENST00000440973.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49						c.(1516-1518)caG>caA		estrogen receptor 1	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)						50	47	48					6																	152415668		2203	4300	6503	SO:0001819	synonymous_variant	2099				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr6:152415668G>A	X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"Nuclear hormone receptors"	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.1518G>A	6.37:g.152415668G>A						ESR1_ENST00000206249.3_Silent_p.Q506Q|ESR1_ENST00000443427.1_Silent_p.Q506Q|ESR1_ENST00000544394.1_Intron|ESR1_ENST00000406599.1_Silent_p.Q245Q|ESR1_ENST00000338799.5_Silent_p.Q506Q|ESR1_ENST00000456483.2_Silent_p.Q394Q	p.Q506Q	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	9	1888	+		Ovarian(120;0.0448)	506			Interaction with AKAP13.|Steroid-binding.		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Silent	SNP	ENST00000206249.3	37	c.1518G>A	CCDS5234.1	.	.	.	.	.	.	.	.	.	.	G	9.704	1.155237	0.21371	.	.	ENSG00000091831	ENST00000347491	.	.	.	5.5	1.74	0.24563	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4745	0.44657	0.2634:0.0:0.7366:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ESR1	152457361	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.621000	0.46418	0.308000	0.22923	0.555000	0.69702	.		0.562	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			10	39	0	0	0	1	0	10	39					A	152415668	G	A	152415668	2	1	132	1	0	0	0	0	0	0	0	1	5256	962	34	2		2	ESR1	6	152415668	Silent	SNP	G	TCGA-DJ-A3V0-01A-11D-A22Z-08	41479840	152415668	18699399	13	2808											
MAFK	7975	broad.mit.edu	37	chr7	1579674	1579674	+	Frame_Shift_Del	DEL	C	C	-													ccagcacctgcggggtctcaCcaaggaggaggtgacccgcc							TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr7:1579674delC	ENST00000343242.4	+	3	363	c.134delC	c.(133-135)accfs	p.T45fs		NM_002360.3	NP_002351.1	O60675	MAFK_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog K	45					blood coagulation (GO:0007596)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.75e-15)		CGGGGTCTCACCAAGGAGGAG	0.662																																						ENST00000343242.4																			0											c.(133-135)acfs		v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog K							30	27	28					7																	1579674		2169	4264	6433	SO:0001589	frameshift_variant	7975				blood coagulation	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:1579674delC	AF059194	CCDS5325.1	7p22	2013-07-09	2013-07-09		ENSG00000198517	ENSG00000198517			6782	protein-coding gene	gene with protein product	"basic-leucine zipper transcription factor MafK", "erythroid transcription factor NF-E2 p18 subunit", "nuclear factor erythroid-2, ubiquitous (p18)"	600197				9763667	Standard	XM_005249851		Approved	P18, NFE2U	uc003skr.3	O60675	OTTHUMG00000151453	ENST00000343242.4:c.134delC	7.37:g.1579674delC	ENSP00000344903:p.Thr45fs						p.T45fs	NM_002360.3	NP_002351.1	O60675	MAFK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.75e-15)	3	363	+		Ovarian(82;0.0253)	45					A4D214	Frame_Shift_Del	DEL	ENST00000343242.4	37	c.134delC	CCDS5325.1																																																																																				0.662	MAFK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322712.1	NM_002360		2	4						2	4	---	---	---	---	-	1579674	C	-	1579674	7	5	132	1	0	1	0	1	0	0	0	0	9161	507	18	0	140	0	MAFK	7	1579674	Frame_Shift_Del	DEL	C	TCGA-DJ-A3V0-01A-11D-A22Z-08		1579674	157558989	14	2809											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		25	46	0	0	0	1	0	25	46					T	140453136	A	T	140453136	3	4	132	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3V0-01A-11D-A22Z-08	138873462	140453136	18685527	15	2810											
MYST3	7994	broad.mit.edu	37	chr8	41792173	41792173	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatggaaacgatgggctcaaTgacgcatgcttgagtagaaa	12	6	1	3			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr8:41792173T>A	ENST00000396930.3	-	18	4108	c.3565A>T	c.(3565-3567)Att>Ttt	p.I1189F	KAT6A_ENST00000265713.2_Missense_Mutation_p.I1189F|KAT6A_ENST00000406337.1_Missense_Mutation_p.I1189F	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1189					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ATGGGCTCAATGACGCATGCT	0.478																																						ENST00000396930.3																			0											c.(3565-3567)Att>Ttt		K(lysine) acetyltransferase 6A							167	159	162					8																	41792173		2203	4300	6503	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41792173T>A	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.3565A>T	8.37:g.41792173T>A	ENSP00000380136:p.Ile1189Phe					KAT6A_ENST00000265713.2_Missense_Mutation_p.I1189F|KAT6A_ENST00000406337.1_Missense_Mutation_p.I1189F	p.I1189F	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	4108	-			1189					Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.3565A>T	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	T	2.097	-0.407007	0.04832	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.59364	0.27;0.27;0.27	5.95	0.209	0.15226	.	1.061000	0.07250	N	0.865673	T	0.32793	0.0841	N	0.08118	0	0.09310	N	1	B	0.18166	0.026	B	0.17433	0.018	T	0.24621	-1.0155	10	0.56958	D	0.05	-1.6417	1.9672	0.03398	0.1268:0.35:0.1243:0.3988	.	1189	Q92794	KAT6A_HUMAN	F	1189	ENSP00000265713:I1189F;ENSP00000385888:I1189F;ENSP00000380136:I1189F	ENSP00000265713:I1189F	I	-	1	0	KAT6A	41911330	0.000000	0.05858	0.015000	0.15790	0.001000	0.01503	-1.134000	0.03228	0.010000	0.14839	-0.242000	0.12053	ATT		0.478	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		34	76	0	0	0	1	0	34	76					A	41792173	T	A	41792173	3	1	132	1	0	0	0	0	1	0	0	0	10104	1464	51	5	2453	5	MYST3	8	41792173	Missense_Mutation	SNP	T	TCGA-DJ-A3V0-01A-11D-A22Z-08		41792173	104571849	16	2811											
RGP1	57704	broad.mit.edu	37	chr9	35752094	35752103	+	5'Flank	DEL	TCCCTCCCAA	TCCCTCCCAA	-													atacaactagaaccagcttcTccctcccaatccctctcagc					rs182043770		TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr9:35752094_35752103delTCCCTCCCAA	ENST00000378103.3	-	0	0				GBA2_ENST00000378094.4_5'Flank|RGP1_ENST00000378078.4_Frame_Shift_Del_p.SLPI302fs|RGP1_ENST00000456972.2_Frame_Shift_Del_p.SLPI342fs|MSMP_ENST00000414286.1_5'Flank|GBA2_ENST00000545786.1_5'Flank	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						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)			AACCAGCTTCTCCCTCCCAATCCCTCTCAG	0.581																																						ENST00000378078.4																			0				cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						c.(904-915)tcfs		RGP1 retrograde golgi transport homolog (S. cerevisiae)																																				SO:0001631	upstream_gene_variant	9827							g.chr9:35752094_35752103delTCCCTCCCAA	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		9.37:g.35752094_35752103delTCCCTCCCAA	Exception_encountered					RGP1_ENST00000456972.2_Frame_Shift_Del_p.SLPI342fs	p.SLPI302fs	NM_001080496.2	NP_001073965.2	Q92546	RGP1_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		8	1045_1054	+	all_epithelial(49;0.167)		302					D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Frame_Shift_Del	DEL	ENST00000378103.3	37	c.904_913delTCCCTCCCAA	CCDS6589.1																																																																																				0.581	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		11	18						11	18	---	---	---	---	-	35752103	TCCCTCCCAA	-	35752094	6	5	132	0	1	1	0	1	0	0	0	0	13284	1551	54	0		0	RGP1	9	35752094	5'Flank	DEL	TCCCTCCCAA	TCGA-DJ-A3V0-01A-11D-A22Z-08		35752094	105461337	17	2812											
EXD3	54932	broad.mit.edu	37	chr9	140247218	140247218	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacagctgctcctgaagccaCgggctctgccccaccaggcc	11	18	1	1	rs539438670		TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr9:140247218C>A	ENST00000340951.4	-	11	1086	c.891G>T	c.(889-891)ccG>ccT	p.P297P	EXD3_ENST00000342129.4_5'UTR	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0										NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						CCTGAAGCCACGGGCTCTGCC	0.677																																						ENST00000340951.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						c.(889-891)ccG>ccT		exonuclease 3'-5' domain containing 3							8	11	10					9																	140247218		2034	4147	6181	SO:0001819	synonymous_variant	54932				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr9:140247218C>A		CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.891G>T	9.37:g.140247218C>A						EXD3_ENST00000342129.4_5'UTR	p.P297P	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN			11	1086	-			297					Q6P1M1|Q8IXT8	Silent	SNP	ENST00000340951.4	37	c.891G>T	CCDS48066.1																																																																																				0.677	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	NM_017820		4	5	1	0	1	1	1	4	5					A	140247218	C	A	140247218	2	1	132	1	0	0	0	0	0	0	0	1	5299	523	19	4		4	EXD3	9	140247218	Silent	SNP	C	TCGA-DJ-A3V0-01A-11D-A22Z-08	104495124	140247218	966213	18	2813											
CTNNA3	29119	broad.mit.edu	37	chr10	69366808	69366808	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagtttacaagtgtggtaacCtaaaattggaaaaatacaaa	7	5	0	0			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr10:69366808C>A	ENST00000433211.2	-	3	274		c.e3-1		CTNNA3_ENST00000373744.4_Splice_Site|CTNNA3_ENST00000545309.1_Splice_Site	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						GTGTGGTAACCTAAAATTGGA	0.408																																						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.e3-1		catenin (cadherin-associated protein), alpha 3							80	80	80					10																	69366808		2203	4300	6503	SO:0001630	splice_region_variant	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:69366808C>A	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.100-1G>T	10.37:g.69366808C>A						CTNNA3_ENST00000373744.4_Splice_Site|CTNNA3_ENST00000545309.1_Splice_Site		NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN			3	274	-									Splice_Site	SNP	ENST00000433211.2	37		CCDS7269.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605161	0.87157	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309;ENST00000330298;ENST00000540598	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8449	0.92202	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CTNNA3	69036814	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.484000	0.81180	2.751000	0.94390	0.555000	0.69702	.		0.408	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266	Intron	18	31	1	0	6.94344e-10	1	8.24534e-10	18	31					A	69366808	C	A	69366808	5	1	132	1	0	0	0	0	0	0	1	0	4014	695	24	4	2652	4	CTNNA3	10	69366808	Splice_Site	SNP	C	TCGA-DJ-A3V0-01A-11D-A22Z-08		69366808	66167939	19	2814											
CTBP2	1488	broad.mit.edu	37	chr10	126683040	126683040	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catctattttcaaattacctGctttatggtaaagtcattga	5	7	3	1			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr10:126683040G>T	ENST00000337195.5	-	7	1177	c.778C>A	c.(778-780)Cag>Aag	p.Q260K	CTBP2_ENST00000309035.6_Missense_Mutation_p.Q800K|CTBP2_ENST00000334808.6_Missense_Mutation_p.Q328K|CTBP2_ENST00000411419.2_Missense_Mutation_p.Q260K|CTBP2_ENST00000494626.2_Missense_Mutation_p.Q260K|CTBP2_ENST00000531469.1_Missense_Mutation_p.Q260K	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	260					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CAAATTACCTGCTTTATGGTA	0.488																																						ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(2398-2400)Cag>Aag		C-terminal binding protein 2							95	85	88					10																	126683040		2203	4300	6503	SO:0001583	missense	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126683040G>T	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.778C>A	10.37:g.126683040G>T	ENSP00000338615:p.Gln260Lys					CTBP2_ENST00000494626.2_Missense_Mutation_p.Q260K|CTBP2_ENST00000531469.1_Missense_Mutation_p.Q260K|CTBP2_ENST00000411419.2_Missense_Mutation_p.Q260K|CTBP2_ENST00000337195.5_Missense_Mutation_p.Q260K|CTBP2_ENST00000334808.6_Missense_Mutation_p.Q328K	p.Q800K	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	5	2528	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	260					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	ENST00000337195.5	37	c.2398C>A	CCDS7643.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967859	0.74131	.	.	ENSG00000175029	ENST00000337195;ENST00000309035;ENST00000334808;ENST00000531469;ENST00000494626;ENST00000411419	T;T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18;-1.18	5.36	5.36	0.76844	D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding (1);D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.67258	0.2874	N	0.05050	-0.12	0.80722	D	1	P;P;P	0.42692	0.787;0.585;0.787	B;P;B	0.45971	0.407;0.499;0.407	T	0.69221	-0.5202	10	0.30078	T	0.28	.	19.0895	0.93221	0.0:0.0:1.0:0.0	.	260;800;328	P56545;P56545-2;Q5SQP8	CTBP2_HUMAN;.;.	K	260;800;328;260;260;260	ENSP00000338615:Q260K;ENSP00000311825:Q800K;ENSP00000357816:Q328K;ENSP00000434630:Q260K;ENSP00000436285:Q260K;ENSP00000410474:Q260K	ENSP00000311825:Q800K	Q	-	1	0	CTBP2	126673030	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.509000	0.84616	0.561000	0.74099	CAG		0.488	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		3	31	1	0	0.115264	1	0.125144	3	31					T	126683040	G	T	126683040	3	4	132	1	0	0	0	0	1	0	0	0	3998	1328	46	4	579	4	CTBP2	10	126683040	Missense_Mutation	SNP	G	TCGA-DJ-A3V0-01A-11D-A22Z-08	57316232	126683040	8851707	20	2815											
MLL2	8085	broad.mit.edu	37	chr12	49427459	49427459	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgttgctgctgttgggccaGagctgtattaaggaaggggc	16	7	0	1			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr12:49427459G>A	ENST00000301067.7	-	39	11028	c.11029C>T	c.(11029-11031)Ctg>Ttg	p.L3677L	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3677	Gln-rich.				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)										TGTTGGGCCAGAGCTGTATTA	0.637																																						ENST00000301067.7																			0											c.(11029-11031)Ctg>Ttg		lysine (K)-specific methyltransferase 2D							52	58	56					12																	49427459		2014	4180	6194	SO:0001819	synonymous_variant	8085							g.chr12:49427459G>A	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.11029C>T	12.37:g.49427459G>A							p.L3677L	NM_003482.3	NP_003473.3					39	11028	-								O14687	Silent	SNP	ENST00000301067.7	37	c.11029C>T	CCDS44873.1																																																																																				0.637	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			30	62	0	0	0	1	0	30	62					A	49427459	G	A	49427459	2	1	132	1	0	0	0	0	0	0	0	1	9621	933	33	2		2	MLL2	12	49427459	Silent	SNP	G	TCGA-DJ-A3V0-01A-11D-A22Z-08		49427459	84424436	21	2816											
CPM	1368	broad.mit.edu	37	chr12	69279639	69279639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgtgttcctttggaaacCgccccacaacaagaacccac	6	15	1	1			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr12:69279639C>T	ENST00000551568.1	-	3	251	c.191G>A	c.(190-192)cGg>cAg	p.R64Q	CPM_ENST00000338356.3_Missense_Mutation_p.R64Q|CPM_ENST00000546373.1_Missense_Mutation_p.R64Q	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	64					anatomical structure morphogenesis (GO:0009653)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			CTTTGGAAACCGCCCCACAAC	0.398																																						ENST00000551568.1																			0				large_intestine(1)|lung(6)|prostate(2)	9						c.(190-192)cGg>cAg		carboxypeptidase M							142	137	139					12																	69279639		2203	4300	6503	SO:0001583	missense	1368				anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding	g.chr12:69279639C>T	AF368463	CCDS8987.1	12q15	2012-02-10			ENSG00000135678	ENSG00000135678	3.4.17.12		2311	protein-coding gene	gene with protein product	"renal carboxypeptidase", "urinary carboxypeptidase B"	114860				8586455	Standard	NM_001874		Approved		uc001suq.3	P14384	OTTHUMG00000169300	ENST00000551568.1:c.191G>A	12.37:g.69279639C>T	ENSP00000448517:p.Arg64Gln					CPM_ENST00000546373.1_Missense_Mutation_p.R64Q|CPM_ENST00000338356.3_Missense_Mutation_p.R64Q	p.R64Q	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		3	251	-	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		64					B2R800|Q9H2K9	Missense_Mutation	SNP	ENST00000551568.1	37	c.191G>A	CCDS8987.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.20|12.20	1.866577|1.866577	0.32977|0.32977	.|.	.|.	ENSG00000135678|ENSG00000135678	ENST00000549781|ENST00000551568;ENST00000338356;ENST00000546373;ENST00000548954;ENST00000548262	T|T;T;T;T;T	0.30182|0.03330	1.54|3.97;3.97;3.97;3.97;3.97	4.99|4.99	3.0|3.0	0.34707|0.34707	.|Peptidase M14, carboxypeptidase A (2);	.|0.413525	.|0.24583	.|N	.|0.037286	T|T	0.03434|0.03434	0.0099|0.0099	L|L	0.41824|0.41824	1.3|1.3	0.09310|0.09310	N|N	1|1	.|B	.|0.17852	.|0.024	.|B	.|0.10450	.|0.005	T|T	0.40887|0.40887	-0.9539|-0.9539	6|9	.|.	.|.	.|.	-5.4059|-5.4059	7.1859|7.1859	0.25799|0.25799	0.0:0.7295:0.0:0.2705|0.0:0.7295:0.0:0.2705	.|.	.|64	.|P14384	.|CBPM_HUMAN	S|Q	63|64	ENSP00000448078:G63S|ENSP00000448517:R64Q;ENSP00000339157:R64Q;ENSP00000447255:R64Q;ENSP00000446799:R64Q;ENSP00000449911:R64Q	.|.	G|R	-|-	1|2	0|0	CPM|CPM	67565906|67565906	0.159000|0.159000	0.22864|0.22864	0.212000|0.212000	0.23672|0.23672	0.913000|0.913000	0.54294|0.54294	1.001000|1.001000	0.29783|0.29783	1.103000|1.103000	0.41568|0.41568	0.563000|0.563000	0.77884|0.77884	GGT|CGG		0.398	CPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403355.1	NM_198320		41	66	0	0	0	1	0	41	66					T	69279639	C	T	69279639	3	4	132	1	0	0	0	0	1	0	0	0	3808	652	23	1	1168	1	CPM	12	69279639	Missense_Mutation	SNP	C	TCGA-DJ-A3V0-01A-11D-A22Z-08	19852180	69279639	64572256	22	2817											
HHIPL1	84439	broad.mit.edu	37	chr14	100125953	100125953	+	Frame_Shift_Del	DEL	G	G	-													cccctcctcgggcactggccGcgggcgcctcttctgcggcg							TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr14:100125953delG	ENST00000330710.5	+	4	1333	c.1235delG	c.(1234-1236)cgcfs	p.R412fs	HHIPL1_ENST00000357223.2_Frame_Shift_Del_p.R412fs	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	412					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				GGCACTGGCCGCGGGCGCCTC	0.726																																						ENST00000330710.5																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15						c.(1234-1236)ccfs		HHIP-like 1							4	6	5					14																	100125953		2060	4068	6128	SO:0001589	frameshift_variant	84439				carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	g.chr14:100125953delG	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"KIAA1822"	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.1235delG	14.37:g.100125953delG	ENSP00000330601:p.Arg412fs					HHIPL1_ENST00000357223.2_Frame_Shift_Del_p.R412fs	p.R412fs	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN			4	1333	+		Melanoma(154;0.128)	412					A2RUF8|B2RN09|Q6UXX2	Frame_Shift_Del	DEL	ENST00000330710.5	37	c.1235delG	CCDS45162.1																																																																																				0.726	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566		2	4						2	4	---	---	---	---	-	100125953	G	-	100125953	7	5	132	1	0	1	0	1	0	0	0	0	7093	1087	38	0	1249	0	HHIPL1	14	100125953	Frame_Shift_Del	DEL	G	TCGA-DJ-A3V0-01A-11D-A22Z-08		100125953	7223587	23	2818											
CORO7	79585	broad.mit.edu	37	chr16	4462417	4462417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttggccttgcagaggcaCaatgcccagtacacctgtta	9	13	0	1			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr16:4462417C>T	ENST00000251166.4	-	3	317	c.172G>A	c.(172-174)Gtg>Atg	p.V58M	CORO7_ENST00000423908.2_Intron|CORO7_ENST00000539968.1_De_novo_Start_OutOfFrame|CORO7_ENST00000577144.1_5'UTR|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.V58M|CORO7_ENST00000537233.2_Missense_Mutation_p.V58M|CORO7_ENST00000574025.1_Missense_Mutation_p.V58M	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	58					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						TGCAGAGGCACAATGCCCAGT	0.587																																						ENST00000539968.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23								coronin 7							148	123	132					16																	4462417		2197	4300	6497	SO:0001583	missense	79585							g.chr16:4462417C>T	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"Coronins", "WD repeat domain containing"	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.172G>A	16.37:g.4462417C>T	ENSP00000251166:p.Val58Met					CORO7_ENST00000577144.1_5'UTR|CORO7_ENST00000574025.1_Missense_Mutation_p.V58M|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000537233.2_Missense_Mutation_p.V58M|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.V58M|CORO7_ENST00000251166.4_Missense_Mutation_p.V58M								0	294	-								B4DFD6|B4DL18|I3L416|Q17RK4	Translation_Start_Site	SNP	ENST00000251166.4	37		CCDS10513.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.181003	0.57800	.	.	ENSG00000103426	ENST00000251166;ENST00000537233	T;T	0.68479	5.0;-0.33	5.22	3.25	0.37280	.	1.596220	0.03958	N	0.289648	T	0.68915	0.3053	M	0.62723	1.935	0.80722	D	1	B;P;B;P	0.46706	0.068;0.883;0.041;0.843	B;B;B;B	0.43508	0.028;0.422;0.013;0.351	T	0.57780	-0.7752	10	0.87932	D	0	-9.6793	8.5616	0.33514	0.0:0.8276:0.0:0.1724	.	58;58;58;39	P57737-2;B4DFD6;P57737;B4DKU9	.;.;CORO7_HUMAN;.	M	58	ENSP00000251166:V58M;ENSP00000440460:V58M	ENSP00000251166:V58M	V	-	1	0	CORO7	4402418	0.961000	0.32948	0.719000	0.30619	0.648000	0.38561	2.084000	0.41625	0.581000	0.29539	0.462000	0.41574	GTG		0.587	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535		5	91	0	0	0	1	0	5	91					T	4462417	C	T	4462417	3	4	132	1	0	0	0	0	1	0	0	0	3759	478	17	2	2709	2	CORO7	16	4462417	Missense_Mutation	SNP	C	TCGA-DJ-A3V0-01A-11D-A22Z-08		4462417	85892336	24	2819											
KRTAP4-12	83755	broad.mit.edu	37	chr17	39280324	39280324	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggggcggcagcagttctcCaggccacagccctggtcaga	14	14	2	1			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr17:39280324C>A	ENST00000394014.1	-	1	95	c.51G>T	c.(49-51)ctG>ctT	p.L17L		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	17	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].					keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCAGTTCTCCAGGCCACAGC	0.637																																						ENST00000394014.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(49-51)ctG>ctT		keratin associated protein 4-12							54	63	60					17																	39280324		2203	4296	6499	SO:0001819	synonymous_variant	83755					keratin filament		g.chr17:39280324C>A	AJ406943	CCDS32649.1	17q21.2	2013-06-25			ENSG00000213416	ENSG00000213416		"Keratin associated proteins"	16776	protein-coding gene	gene with protein product						11279113	Standard	NM_031854		Approved	KAP4.12	uc002hwa.3	Q9BQ66	OTTHUMG00000133632	ENST00000394014.1:c.51G>T	17.37:g.39280324C>A							p.L17L	NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	95	-		Breast(137;0.000496)	17			31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].		A3KMC5|Q495I0	Silent	SNP	ENST00000394014.1	37	c.51G>T	CCDS32649.1																																																																																				0.637	KRTAP4-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257777.1			4	141	1	0	1	1	1	4	141					A	39280324	C	A	39280324	2	1	132	1	0	0	0	0	0	0	0	1	8550	581	21	4		4	KRTAP4-12	17	39280324	Silent	SNP	C	TCGA-DJ-A3V0-01A-11D-A22Z-08		39280324	41914886	25	2820											
DNAH17	8632	broad.mit.edu	37	chr17	76457692	76457692	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttctctttgctgaccttctcGgcctcgatgccgaccacctg	8	16	2	1	rs548700594	byFrequency	TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr17:76457692G>C	ENST00000585328.1	-	58	9382	c.9258C>G	c.(9256-9258)gcC>gcG	p.A3086A	DNAH17_ENST00000389840.5_Silent_p.A3077A|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3077	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(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGACCTTCTCGGCCTCGATGC	0.537																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(9229-9231)gcC>gcG		dynein, axonemal, heavy chain 17							111	75	87					17																	76457692		2203	4300	6503	SO:0001819	synonymous_variant	8632							g.chr17:76457692G>C	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.9258C>G	17.37:g.76457692G>C						DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.A3086A	p.A3077A					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		58	9355	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.9231C>G																																																																																					0.537	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		7	11	0	0	0	1	0	7	11					C	76457692	G	C	76457692	2	2	132	1	0	0	0	0	0	0	0	1	4601	1103	39	4		4	DNAH17	17	76457692	Silent	SNP	G	TCGA-DJ-A3V0-01A-11D-A22Z-08	37177368	76457692	4737518	26	2821											
SERPINB11	89778	broad.mit.edu	37	chr18	61379924	61379924	+	RNA	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acaaagacgatggcatttcaTcaggtaagtccatttggaag	10	7	2	1			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr18:61379924T>A	ENST00000382749.5	+	0	599				SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000544088.1_RNA|SERPINB11_ENST00000536691.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				TGGCATTTCATCAGGTAAGTC	0.438																																					Ovarian(27;496 784 5942 8975 23930)	ENST00000544088.1																			0				breast(1)|cervix(1)|kidney(1)|lung(3)	6								serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)							104	100	101					18																	61379924		1903	4121	6024			89778				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61379924T>A			18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"Serine (or cysteine) peptidase inhibitors"	14221	protein-coding gene	gene with protein product		615682	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11", "serpin peptidase inhibitor, clade B (ovalbumin), member 11"			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61379924T>A						SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000489748.1_RNA		NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN			0	416	+		Esophageal squamous(42;0.129)						A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	RNA	SNP	ENST00000382749.5	37			.	.	.	.	.	.	.	.	.	.	T	9.767	1.171526	0.21704	.	.	ENSG00000206072	ENST00000544088	D	0.83755	-1.76	5.44	-1.1	0.09872	Serpin domain (3);	.	.	.	.	T	0.75968	0.3922	L	0.33710	1.025	0.51767	D	0.999931	B;P;P	0.42203	0.401;0.731;0.773	B;P;P	0.51101	0.312;0.529;0.659	T	0.69472	-0.5136	9	0.46703	T	0.11	.	1.306	0.02088	0.1238:0.2149:0.2533:0.408	.	118;118;118	Q96P15-2;F5GYW9;Q96P15	.;.;SPB11_HUMAN	Q	118	ENSP00000441497:H118Q	ENSP00000421854:H118Q	H	+	3	2	SERPINB11	59530904	0.044000	0.20184	0.502000	0.27614	0.004000	0.04260	-0.409000	0.07160	0.026000	0.15269	-0.435000	0.05868	CAT		0.438	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000207392.3	NM_080475		34	46	0	0	0	1	0	34	46					A	61379924	T	A	61379924	1	1	132	0	1	0	0	0	0	0	0	0	14098	1432	50	5		5	SERPINB11	18	61379924	RNA	SNP	T	TCGA-DJ-A3V0-01A-11D-A22Z-08		61379924	16697324	27	2822											
CCDC97	90324	broad.mit.edu	37	chr19	41822618	41822618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctggcctgctttggccacGtgcgtggcgaccaccgtgca	13	14	1	0	rs375014029		TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr19:41822618G>A	ENST00000269967.3	+	2	498	c.376G>A	c.(376-378)Gtg>Atg	p.V126M		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	126										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						CTTTGGCCACGTGCGTGGCGA	0.677																																						ENST00000269967.3																			0				biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						c.(376-378)Gtg>Atg		coiled-coil domain containing 97		G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	47	45	46		376	-1.1	0.9	19		46	0,8600		0,0,4300	no	missense	CCDC97	NM_052848.1	21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	126/344	41822618	1,13005	2203	4300	6503	SO:0001583	missense	90324							g.chr19:41822618G>A	BC011577	CCDS12578.1	19q13.2	2008-02-05							28289	protein-coding gene	gene with protein product						12477932	Standard	NM_052848		Approved	FLJ40267, MGC20255	uc002oqg.3	Q96F63		ENST00000269967.3:c.376G>A	19.37:g.41822618G>A	ENSP00000269967:p.Val126Met						p.V126M	NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN			2	498	+			126					Q658N6|Q96IF3	Missense_Mutation	SNP	ENST00000269967.3	37	c.376G>A	CCDS12578.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.570475	0.28003	2.27E-4	0.0	ENSG00000142039	ENST00000269967	.	.	.	4.51	-1.13	0.09775	.	0.196250	0.33161	N	0.005218	T	0.22936	0.0554	N	0.08118	0	0.33834	D	0.630643	B	0.12013	0.005	B	0.06405	0.002	T	0.07385	-1.0775	9	0.40728	T	0.16	-6.5695	9.3578	0.38177	0.0:0.7424:0.1357:0.1219	.	126	Q96F63	CCD97_HUMAN	M	126	.	ENSP00000269967:V126M	V	+	1	0	CCDC97	46514458	0.910000	0.30920	0.936000	0.37596	0.685000	0.39939	-0.120000	0.10660	-0.343000	0.08351	-0.357000	0.07601	GTG		0.677	CCDC97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463293.1	NM_052848		5	37	0	0	0	1	0	5	37					A	41822618	G	A	41822618	3	1	132	1	0	0	0	0	1	0	0	0	2875	1145	40	1	382	1	CCDC97	19	41822618	Missense_Mutation	SNP	G	TCGA-DJ-A3V0-01A-11D-A22Z-08		41822618	17306365	28	2823											
NLRP7	199713	broad.mit.edu	37	chr19	55449556	55449556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagaaatctgtccagaggCgaagagagcgaagatcctgc	13	9	1	4	rs536060023		TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr19:55449556C>T	ENST00000590030.1	-	4	2025	c.1985G>A	c.(1984-1986)cGc>cAc	p.R662H	NLRP7_ENST00000588756.1_Missense_Mutation_p.R662H|NLRP7_ENST00000448121.2_Intron|NLRP7_ENST00000340844.2_Missense_Mutation_p.R662H|NLRP7_ENST00000328092.5_Intron|NLRP7_ENST00000446217.1_Missense_Mutation_p.R690H|NLRP7_ENST00000592784.1_Missense_Mutation_p.R662H			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	662							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TGTCCAGAGGCGAAGAGAGCG	0.493													.|||	1	0.000199681	8e-04	0	5008	,	,		16799	0		0	False		,,,				2504	0					ENST00000588756.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(1984-1986)cGc>cAc		NLR family, pyrin domain containing 7							108	105	106					19																	55449556		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55449556C>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1985G>A	19.37:g.55449556C>T	ENSP00000465520:p.Arg662His					NLRP7_ENST00000590030.1_Missense_Mutation_p.R662H|NLRP7_ENST00000592784.1_Missense_Mutation_p.R662H|NLRP7_ENST00000446217.1_Missense_Mutation_p.R690H|NLRP7_ENST00000340844.2_Missense_Mutation_p.R662H|NLRP7_ENST00000328092.5_Intron|NLRP7_ENST00000448121.2_Intron	p.R662H			Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	7	2471	-			662					E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.1985G>A	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.396978	0.01175	.	.	ENSG00000167634	ENST00000328092;ENST00000340844;ENST00000446217;ENST00000399724	T;T	0.54279	0.58;0.58	2.19	-4.38	0.03622	.	.	.	.	.	T	0.27027	0.0662	N	0.08118	0	0.09310	N	1	B;B;B	0.10296	0.002;0.003;0.003	B;B;B	0.06405	0.001;0.002;0.002	T	0.08868	-1.0701	9	0.41790	T	0.15	.	7.1553	0.25635	0.0:0.3537:0.3641:0.2822	.	690;662;662	E7EPM2;Q32MH9;Q8WX94	.;.;NALP7_HUMAN	H	662;662;690;429	ENSP00000339491:R662H;ENSP00000414273:R690H	ENSP00000329568:R662H	R	-	2	0	NLRP7	60141368	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.201000	0.00560	-3.127000	0.00237	-0.254000	0.11334	CGC		0.493	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		4	111	0	0	0	1	0	4	111					T	55449556	C	T	55449556	3	4	132	1	0	0	0	0	1	0	0	0	10482	768	27	1	1156	1	NLRP7	19	55449556	Missense_Mutation	SNP	C	TCGA-DJ-A3V0-01A-11D-A22Z-08	13626938	55449556	3679427	29	2824											
PLUNC	51297	broad.mit.edu	37	chr20	31825610	31825610	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccgtgcccctggaccagacCctgcccttgaatgtgaatcc	9	17	0	3	rs377416490		TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr20:31825610C>A	ENST00000354297.4	+	2	164	c.93C>A	c.(91-93)acC>acA	p.T31T	BPIFA1_ENST00000375422.2_Silent_p.T31T|BPIFA1_ENST00000375413.4_Silent_p.T31T	NM_130852.2	NP_570913.1	Q9NP55	BPIA1_HUMAN	BPI fold containing family A, member 1	31					antibacterial humoral response (GO:0019731)|innate immune response (GO:0045087)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|regulation of liquid surface tension (GO:0050828)|regulation of sodium ion transmembrane transport (GO:1902305)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)										TGGACCAGACCCTGCCCTTGA	0.557																																						ENST00000354297.4																			0											c.(91-93)acC>acA		BPI fold containing family A, member 1							93	89	90					20																	31825610		2203	4300	6503	SO:0001819	synonymous_variant	51297				innate immune response	extracellular region	lipid binding	g.chr20:31825610C>A	AB024937	CCDS13217.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000198183	ENSG00000198183		"BPI fold containing"	15749	protein-coding gene	gene with protein product		607412	"palate, lung and nasal epithelium carcinoma associated", "palate, lung and nasal epithelium associated"	PLUNC		11018263, 11251963, 21787333	Standard	NM_130852		Approved	LUNX, bA49G10.5, SPLUNC1	uc002wyv.3	Q9NP55	OTTHUMG00000032243	ENST00000354297.4:c.93C>A	20.37:g.31825610C>A						BPIFA1_ENST00000375422.2_Silent_p.T31T|BPIFA1_ENST00000375413.4_Silent_p.T31T	p.T31T	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN			2	164	+			31					A8K9R3|E1P5M9|Q9NZT0	Silent	SNP	ENST00000354297.4	37	c.93C>A	CCDS13217.1																																																																																				0.557	BPIFA1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078667.2	NM_130852		4	78	1	0	0.00909568	1	0.0101658	4	78					A	31825610	C	A	31825610	2	1	132	1	0	0	0	0	0	0	0	1	12115	610	22	4		4	PLUNC	20	31825610	Silent	SNP	C	TCGA-DJ-A3V0-01A-11D-A22Z-08		31825610	31199910	30	2825											
DMC1	11144	broad.mit.edu	37	chr22	38945974	38945974	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ataatctttcctcctgggtaGccaccagctcctggaagttg	9	12	1	0			TCGA-DJ-A3V0-01A-11D-A22Z-08	TCGA-DJ-A3V0-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3b3dca-841d-4f4e-982b-596821aea371	a11340d0-5dc6-4bbe-a1ef-d48afe313e52	g.chr22:38945974G>T	ENST00000216024.2	-	8	726	c.450C>A	c.(448-450)ggC>ggA	p.G150G	DMC1_ENST00000428462.2_Intron	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	150			G -> D (in dbSNP:rs58396845).		female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome (GO:0005694)|chromosome, telomeric region (GO:0000781)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					CTCCTGGGTAGCCACCAGCTC	0.318								Homologous recombination																														ENST00000216024.2																			0				large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(448-450)ggC>ggA	Homologous recombination	DNA meiotic recombinase 1							40	40	40					22																	38945974		2203	4298	6501	SO:0001819	synonymous_variant	11144				reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding	g.chr22:38945974G>T	D63882	CCDS13973.1, CCDS63477.1	22q13.1	2013-05-02	2013-05-02		ENSG00000100206	ENSG00000100206			2927	protein-coding gene	gene with protein product		602721	"DMC1 (dosage suppressor of mck1, yeast homolog) meiosis-specific homologous recombination", "DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast)"			8602360, 8590282, 17541404	Standard	NM_007068		Approved	LIM15	uc003avz.2	Q14565	OTTHUMG00000151088	ENST00000216024.2:c.450C>A	22.37:g.38945974G>T						DMC1_ENST00000428462.2_Intron	p.G150G	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN			8	726	-	Melanoma(58;0.0286)		150		G -> D (in dbSNP:rs58396845).			A8K9A2|B4DMW6|Q08AI1|Q99498|Q9UH11	Silent	SNP	ENST00000216024.2	37	c.450C>A	CCDS13973.1																																																																																				0.318	DMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321246.2	NM_007068		8	13	1	0	1.76689e-08	1	2.0346e-08	8	13					T	38945974	G	T	38945974	2	4	132	1	0	0	0	0	0	0	0	1	4579	958	34	4		4	DMC1	22	38945974	Silent	SNP	G	TCGA-DJ-A3V0-01A-11D-A22Z-08		38945974	12358592	31	2826											
KIT	3815	broad.mit.edu	37	chr4	55573316	55573316	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacactacagtatttgtaaaCgatggagaaaatgtagattt	8	4	0	2	rs148594615		TCGA-DJ-A3V2-01A-11D-A22Z-08	TCGA-DJ-A3V2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a110ba2f-d614-40c7-bef1-6d10230f8a68	e59aedfe-f1b1-49f0-a7b0-d7f783110c62	g.chr4:55573316C>T	ENST00000288135.5	+	6	1075	c.978C>T	c.(976-978)aaC>aaT	p.N326N		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	326	Ig-like C2-type 4.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.N326N(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TATTTGTAAACGATGGAGAAA	0.333		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													ENST00000288135.5		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"Mis, O"	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"L, M, O, E"		"GIST, epithelioma"	"GIST, AML, TGCT, mastocytosis, mucosal melanoma"		1	Substitution - coding silent(1)	p.N326N(1)	ovary(1)	NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(976-978)aaC>aaT		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	T	,	3,4403	6.2+/-15.9	0,3,2200	82	74	77		978,978	-11.3	0.0	4	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	KIT	NM_000222.2,NM_001093772.1	,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,	326/977,326/973	55573316	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55573316C>T	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.978C>T	4.37:g.55573316C>T							p.N326N	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	6	1075	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		326			Ig-like C2-type 4.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Silent	SNP	ENST00000288135.5	37	c.978C>T	CCDS3496.1																																																																																				0.333	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			5	10	0	0	0	1	0	5	10					T	55573316	C	T	55573316	2	4	133	1	0	0	0	0	0	0	0	1	8329	535	19	1		1	KIT	4	55573316	Silent	SNP	C	TCGA-DJ-A3V2-01A-11D-A22Z-08		55573316	135580960	1	2827											
ADAMTS16	170690	broad.mit.edu	37	chr5	5235247	5235247	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagtgtgccgagcacaacagCagacgattcagagggcggca	14	11	1	2			TCGA-DJ-A3V2-01A-11D-A22Z-08	TCGA-DJ-A3V2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a110ba2f-d614-40c7-bef1-6d10230f8a68	e59aedfe-f1b1-49f0-a7b0-d7f783110c62	g.chr5:5235247C>A	ENST00000274181.7	+	13	2109	c.1971C>A	c.(1969-1971)agC>agA	p.S657R	ADAMTS16_ENST00000513709.1_3'UTR	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	657	Cys-rich.				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						AGCACAACAGCAGACGATTCA	0.512																																						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.(1969-1971)agC>agA		ADAM metallopeptidase with thrombospondin type 1 motif, 16							76	80	79					5																	5235247		1950	4152	6102	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5235247C>A	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.1971C>A	5.37:g.5235247C>A	ENSP00000274181:p.Ser657Arg					ADAMTS16_ENST00000513709.1_3'UTR	p.S657R	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			13	2109	+			657			Cys-rich.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.1971C>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.365322	0.24684	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.63580	-0.05	4.57	3.68	0.42216	.	0.198340	0.50627	D	0.000116	T	0.56702	0.2003	M	0.62016	1.91	0.80722	D	1	P;B	0.50710	0.938;0.296	B;B	0.41860	0.368;0.292	T	0.58825	-0.7568	10	0.33940	T	0.23	.	11.2853	0.49218	0.0:0.908:0.0:0.092	.	657;657	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	R	657	ENSP00000274181:S657R	ENSP00000274181:S657R	S	+	3	2	ADAMTS16	5288247	1.000000	0.71417	0.100000	0.21137	0.015000	0.08874	2.587000	0.46128	2.270000	0.75569	0.655000	0.94253	AGC		0.512	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		3	33	1	0	0.115264	1	0.115264	3	33					A	5235247	C	A	5235247	3	1	133	1	0	0	0	0	1	0	0	0	261	709	25	4	2021	4	ADAMTS16	5	5235247	Missense_Mutation	SNP	C	TCGA-DJ-A3V2-01A-11D-A22Z-08		5235247	175680013	2	2828											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3V2-01A-11D-A22Z-08	TCGA-DJ-A3V2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a110ba2f-d614-40c7-bef1-6d10230f8a68	e59aedfe-f1b1-49f0-a7b0-d7f783110c62	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		12	37	0	0	0	1	0	12	37					T	140453136	A	T	140453136	3	4	133	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3V2-01A-11D-A22Z-08		140453136	18685527	3	2829											
ST8SIA6	338596	broad.mit.edu	37	chr10	17373483	17373483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcgtaactcatattagtcCcaactggagtgttattctga	7	10	2	1			TCGA-DJ-A3V2-01A-11D-A22Z-08	TCGA-DJ-A3V2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a110ba2f-d614-40c7-bef1-6d10230f8a68	e59aedfe-f1b1-49f0-a7b0-d7f783110c62	g.chr10:17373483C>T	ENST00000377602.4	-	5	520	c.446G>A	c.(445-447)gGg>gAg	p.G149E		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	149					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						CATATTAGTCCCAACTGGAGT	0.388																																						ENST00000377602.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						c.(445-447)gGg>gAg		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6							112	112	112					10																	17373483		2203	4300	6503	SO:0001583	missense	338596				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr10:17373483C>T		CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"Sialyltransferases"	23317	protein-coding gene	gene with protein product	"ST8Sia VI"	610139	"sialyltransferase 8F (alpha-2, 8-sialyltransferase)"	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.446G>A	10.37:g.17373483C>T	ENSP00000366827:p.Gly149Glu						p.G149E	NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN			5	520	-			149					B0YJ97|B9EH72|Q5VZH4	Missense_Mutation	SNP	ENST00000377602.4	37	c.446G>A	CCDS31158.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893246	0.72524	.	.	ENSG00000148488	ENST00000377602	T	0.28454	1.61	4.77	3.85	0.44370	.	0.048201	0.85682	D	0.000000	T	0.61502	0.2352	M	0.88979	2.995	0.48452	D	0.999657	D	0.89917	1.0	D	0.97110	1.0	T	0.71394	-0.4606	10	0.66056	D	0.02	-11.9662	15.2681	0.73678	0.0:0.859:0.141:0.0	.	149	P61647	SIA8F_HUMAN	E	149	ENSP00000366827:G149E	ENSP00000366827:G149E	G	-	2	0	ST8SIA6	17413489	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.201000	0.65163	1.325000	0.45301	0.655000	0.94253	GGG		0.388	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470		3	25	0	0	0	1	0	3	25					T	17373483	C	T	17373483	3	4	133	1	0	0	0	0	1	0	0	0	15235	623	22	2	766	2	ST8SIA6	10	17373483	Missense_Mutation	SNP	C	TCGA-DJ-A3V2-01A-11D-A22Z-08		17373483	118161264	4	2830											
GIPC1	10755	broad.mit.edu	37	chr19	14590242	14590242	+	Frame_Shift_Del	DEL	G	G	-													accagatcctccaccgtggcGgggccccgggatcggagccg					rs545362141		TCGA-DJ-A3V2-01A-11D-A22Z-08	TCGA-DJ-A3V2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a110ba2f-d614-40c7-bef1-6d10230f8a68	e59aedfe-f1b1-49f0-a7b0-d7f783110c62	g.chr19:14590242delG	ENST00000393033.4	-	7	1019	c.750delC	c.(748-750)cccfs	p.P250fs	GIPC1_ENST00000393028.1_Frame_Shift_Del_p.P153fs|GIPC1_ENST00000586027.1_Frame_Shift_Del_p.P250fs|GIPC1_ENST00000591349.1_Frame_Shift_Del_p.P153fs|GIPC1_ENST00000393029.3_Frame_Shift_Del_p.P153fs|GIPC1_ENST00000345425.2_Frame_Shift_Del_p.P250fs	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	250					endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|glutamate secretion (GO:0014047)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cytokinesis (GO:0032467)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein targeting (GO:0006605)|regulation of protein stability (GO:0031647)|regulation of synaptic plasticity (GO:0048167)|synaptic transmission (GO:0007268)	brush border (GO:0005903)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|myosin binding (GO:0017022)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						CCACCGTGGCGGGGCCCCGGG	0.617																																					Pancreas(33;78 923 2910 41023 52850)	ENST00000393033.4																			0				endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						c.(748-750)ccfs		GIPC PDZ domain containing family, member 1							7	9	8					19																	14590242		2166	4246	6412	SO:0001589	frameshift_variant	10755				endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding	g.chr19:14590242delG	AF089816	CCDS12310.1, CCDS12311.1	19p13.1	2009-09-22	2005-06-28	2005-06-28					1226	protein-coding gene	gene with protein product		605072	"chromosome 19 open reading frame 3", "regulator of G-protein signalling 19 interacting protein 1"	C19orf3, RGS19IP1		9770488, 9482110	Standard	NM_005716		Approved	TIP-2, Hs.6454, GIPC, SEMCAP, GLUT1CBP, SYNECTIN, NIP	uc002myx.4	O14908		ENST00000393033.4:c.750delC	19.37:g.14590242delG	ENSP00000376753:p.Pro250fs					GIPC1_ENST00000586027.1_Frame_Shift_Del_p.P250fs|GIPC1_ENST00000591349.1_Frame_Shift_Del_p.P153fs|GIPC1_ENST00000393028.1_Frame_Shift_Del_p.P153fs|GIPC1_ENST00000393029.3_Frame_Shift_Del_p.P153fs|GIPC1_ENST00000345425.2_Frame_Shift_Del_p.P250fs	p.P250fs	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN			7	1019	-			250					A8K4I3|A8MZG3|Q9BTC9	Frame_Shift_Del	DEL	ENST00000393033.4	37	c.750delC	CCDS12310.1																																																																																				0.617	GIPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460239.2			2	4						2	4	---	---	---	---	-	14590242	G	-	14590242	7	5	133	1	0	1	0	1	0	0	0	0	6392	1103	39	0	263	0	GIPC1	19	14590242	Frame_Shift_Del	DEL	G	TCGA-DJ-A3V2-01A-11D-A22Z-08		14590242	44538741	5	2831											
LEPR	3953	broad.mit.edu	37	chr1	66058449	66058449	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgtcttgtgcctgtgccaAcagccaaactcaacgacact	7	13	2	0			TCGA-DJ-A3V3-01A-11D-A22Z-08	TCGA-DJ-A3V3-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d012ddd7-fcd6-4551-b1b1-d80ee5909894	05824ae9-7726-4f77-bd87-857be39089f3	g.chr1:66058449A>G	ENST00000349533.6	+	6	789	c.604A>G	c.(604-606)Aca>Gca	p.T202A	LEPR_ENST00000371060.3_Missense_Mutation_p.T202A|LEPR_ENST00000371059.3_Missense_Mutation_p.T202A|LEPR_ENST00000344610.8_Missense_Mutation_p.T202A|LEPR_ENST00000371058.1_Missense_Mutation_p.T202A|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000462765.1_3'UTR	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GCCTGTGCCAACAGCCAAACT	0.428																																						ENST00000349533.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36						c.(604-606)Aca>Gca		leptin receptor							148	134	139					1																	66058449		2203	4300	6503	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66058449A>G	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.604A>G	1.37:g.66058449A>G	ENSP00000330393:p.Thr202Ala					LEPR_ENST00000371060.3_Missense_Mutation_p.T202A|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000344610.8_Missense_Mutation_p.T202A|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.T202A|LEPR_ENST00000371059.3_Missense_Mutation_p.T202A	p.T202A	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	6	789	+			202					Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.604A>G	CCDS631.1	.	.	.	.	.	.	.	.	.	.	A	0.115	-1.133425	0.01756	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.52983	0.65;0.66;0.66;0.64;0.65	5.96	-7.16	0.01516	.	1.385230	0.04603	N	0.398819	T	0.04227	0.0117	N	0.02315	-0.6	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.08911	-1.0699	10	0.05721	T	0.95	2.5165	7.6606	0.28400	0.1856:0.0891:0.5662:0.1591	.	202;202;202	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	A	202	ENSP00000340884:T202A;ENSP00000330393:T202A;ENSP00000360099:T202A;ENSP00000360098:T202A;ENSP00000360097:T202A	ENSP00000340884:T202A	T	+	1	0	LEPR	65831037	0.000000	0.05858	0.002000	0.10522	0.332000	0.28634	-1.672000	0.01952	-1.482000	0.01860	-0.263000	0.10527	ACA		0.428	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		19	28	0	0	0	1	0	19	28					G	66058449	A	G	66058449	3	3	134	1	0	0	0	0	1	0	0	0	8728	43	2	3	618	3	LEPR	1	66058449	Missense_Mutation	SNP	A	TCGA-DJ-A3V3-01A-11D-A22Z-08		66058449	183192172	1	2832											
PCDHB7	56129	broad.mit.edu	37	chr5	140553994	140553994	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactacgaggccctgcaggcGttcgagttccgcgtgggcgc	16	13	0	0	rs374392843		TCGA-DJ-A3V3-01A-11D-A22Z-08	TCGA-DJ-A3V3-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d012ddd7-fcd6-4551-b1b1-d80ee5909894	05824ae9-7726-4f77-bd87-857be39089f3	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	526	Cadherin 5. {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)	p.A526A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCAGGCGTTCGAGTTCC	0.706													g|||	1	0.000199681	0	0	5008	,	,		16269	0		0.001	False		,,,				2504	0					ENST00000231137.3																			1	Substitution - coding silent(1)	p.A526A(1)	lung(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1576-1578)gcG>gcT									62	68	66					5																	140553994		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553994G>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1578G>T	5.37:g.140553994G>T							p.A526A	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1752	+			526			Cadherin 5.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1578G>T	CCDS4249.1																																																																																				0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		5	97	1	0	0.000157383	1	0.000170499	5	97					T	140553994	G	T	140553994	2	4	134	1	0	0	0	0	0	0	0	1	11547	1132	40	4		4	PCDHB7	5	140553994	Silent	SNP	G	TCGA-DJ-A3V3-01A-11D-A22Z-08		140553994	40361266	2	2833											
EPPK1	83481	broad.mit.edu	37	chr8	144940525	144940525	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgcgctcggccgacagcagCttctcctggatctcgccgcc	12	18	2	0			TCGA-DJ-A3V3-01A-11D-A22Z-08	TCGA-DJ-A3V3-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d012ddd7-fcd6-4551-b1b1-d80ee5909894	05824ae9-7726-4f77-bd87-857be39089f3	g.chr8:144940525C>A	ENST00000525985.1	-	2	6968	c.6897G>T	c.(6895-6897)aaG>aaT	p.K2299N				P58107	EPIPL_HUMAN	epiplakin 1	2299						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCGACAGCAGCTTCTCCTGGA	0.701																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6895-6897)aaG>aaT		epiplakin 1							110	108	109					8																	144940525		2182	4255	6437	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940525C>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6897G>T	8.37:g.144940525C>A	ENSP00000436337:p.Lys2299Asn						p.K2299N			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	6968	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2299					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6897G>T		.	.	.	.	.	.	.	.	.	.	C	21.7	4.186209	0.78789	.	.	ENSG00000227184	ENST00000525985	T	0.76578	-1.03	4.63	4.63	0.57726	.	.	.	.	.	D	0.84088	0.5395	M	0.71581	2.175	0.40843	D	0.983684	D	0.89917	1.0	D	0.91635	0.999	T	0.81590	-0.0863	9	0.24483	T	0.36	.	8.6342	0.33936	0.0:0.8986:0.0:0.1014	.	2299	E9PPU0	.	N	2299	ENSP00000436337:K2299N	ENSP00000436337:K2299N	K	-	3	2	EPPK1	145012513	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.474000	0.22148	2.416000	0.81992	0.586000	0.80456	AAG		0.701	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		10	137	1	0	3.86212e-05	1	4.56432e-05	10	137					A	144940525	C	A	144940525	3	1	134	1	0	0	0	0	1	0	0	0	5190	796	28	4	369	4	EPPK1	8	144940525	Missense_Mutation	SNP	C	TCGA-DJ-A3V3-01A-11D-A22Z-08		144940525	1423497	3	2834											
OR1L8	138881	broad.mit.edu	37	chr9	125330357	125330357	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtggctcatggtggtgaCatagtggaaagggtcacaga	17	5	2	2	rs201342990		TCGA-DJ-A3V3-01A-11D-A22Z-08	TCGA-DJ-A3V3-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d012ddd7-fcd6-4551-b1b1-d80ee5909894	05824ae9-7726-4f77-bd87-857be39089f3	g.chr9:125330357C>T	ENST00000304865.2	-	1	481	c.400G>A	c.(400-402)Gtc>Atc	p.V134I		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	134						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(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						ATGGTGGTGACATAGTGGAAA	0.537													C|||	1	0.000199681	0	0	5008	,	,		21504	0.001		0	False		,,,				2504	0					ENST00000304865.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(400-402)Gtc>Atc		olfactory receptor, family 1, subfamily L, member 8							104	77	86					9																	125330357		2203	4300	6503	SO:0001583	missense	138881				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125330357C>T		CCDS35124.1	9q33.2	2013-09-20			ENSG00000171496	ENSG00000171496		"GPCR / Class A : Olfactory receptors"	15110	protein-coding gene	gene with protein product							Standard	NM_001004454		Approved		uc004bmp.1	Q8NGR8	OTTHUMG00000020609	ENST00000304865.2:c.400G>A	9.37:g.125330357C>T	ENSP00000306607:p.Val134Ile						p.V134I	NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN			1	481	-			134					A3KFM3|B9EIR6|Q6IF15|Q96R79	Missense_Mutation	SNP	ENST00000304865.2	37	c.400G>A	CCDS35124.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	10.05	1.244272	0.22796	.	.	ENSG00000171496	ENST00000304865	T	0.07567	3.18	4.49	0.519	0.17035	GPCR, rhodopsin-like superfamily (1);	0.341921	0.21060	N	0.080860	T	0.05181	0.0138	N	0.20401	0.57	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33574	-0.9863	10	0.51188	T	0.08	-22.2687	8.116	0.30944	0.0:0.5736:0.0:0.4264	.	134	Q8NGR8	OR1L8_HUMAN	I	134	ENSP00000306607:V134I	ENSP00000306607:V134I	V	-	1	0	OR1L8	124370178	0.000000	0.05858	0.218000	0.23776	0.791000	0.44710	-7.421000	0.00036	0.017000	0.15025	0.449000	0.29647	GTC		0.537	OR1L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053939.1			11	35	0	0	0	1	0	11	35					T	125330357	C	T	125330357	3	4	134	1	0	0	0	0	1	0	0	0	10967	478	17	2	533	2	OR1L8	9	125330357	Missense_Mutation	SNP	C	TCGA-DJ-A3V3-01A-11D-A22Z-08		125330357	15883074	4	2835											
GPR132	29933	broad.mit.edu	37	chr14	105518396	105518396	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtcttggcggagaggccCagggaggcccacggggcagt	19	11	1	1			TCGA-DJ-A3V3-01A-11D-A22Z-08	TCGA-DJ-A3V3-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d012ddd7-fcd6-4551-b1b1-d80ee5909894	05824ae9-7726-4f77-bd87-857be39089f3	g.chr14:105518396C>T	ENST00000329797.3	-	4	989	c.78G>A	c.(76-78)ctG>ctA	p.L26L	GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000392585.2_Silent_p.L17L|GPR132_ENST00000539291.2_Silent_p.L26L	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	26					G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		CGGAGAGGCCCAGGGAGGCCC	0.642																																						ENST00000329797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(76-78)ctG>ctA		G protein-coupled receptor 132							56	63	60					14																	105518396		2203	4300	6503	SO:0001819	synonymous_variant	29933				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:105518396C>T	AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"GPCR / Class A : Orphans"	17482	protein-coding gene	gene with protein product	"G2 accumulation"	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.78G>A	14.37:g.105518396C>T						GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000392585.2_Silent_p.L17L|GPR132_ENST00000539291.2_Silent_p.L26L	p.L26L	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)	4	989	-		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	26					A8K7X7|B4E144|Q9BSU2	Silent	SNP	ENST00000329797.3	37	c.78G>A	CCDS9997.1																																																																																				0.642	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	NM_013345		21	37	0	0	0	1	0	21	37					T	105518396	C	T	105518396	2	4	134	1	0	0	0	0	0	0	0	1	6642	581	21	2		2	GPR132	14	105518396	Silent	SNP	C	TCGA-DJ-A3V3-01A-11D-A22Z-08		105518396	1831144	5	2836											
AQP9	366	broad.mit.edu	37	chr15	58476192	58476192	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttctggtggattcctgtagTgggccctttggttggtgctg	15	8	1	0			TCGA-DJ-A3V3-01A-11D-A22Z-08	TCGA-DJ-A3V3-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d012ddd7-fcd6-4551-b1b1-d80ee5909894	05824ae9-7726-4f77-bd87-857be39089f3	g.chr15:58476192T>A	ENST00000219919.4	+	6	1116	c.746T>A	c.(745-747)gTg>gAg	p.V249E	ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Missense_Mutation_p.V184E|AQP9_ENST00000536493.1_Missense_Mutation_p.V249E	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	249					amine transport (GO:0015837)|canalicular bile acid transport (GO:0015722)|carboxylic acid transport (GO:0046942)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|glycerol transport (GO:0015793)|immune response (GO:0006955)|metabolic process (GO:0008152)|polyol transport (GO:0015791)|purine nucleobase transport (GO:0006863)|pyrimidine nucleobase transport (GO:0015855)|pyrimidine-containing compound transmembrane transport (GO:0072531)|response to mercury ion (GO:0046689)|response to organic substance (GO:0010033)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water homeostasis (GO:0030104)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carboxylic acid transmembrane transporter activity (GO:0046943)|glycerol channel activity (GO:0015254)|polyol transmembrane transporter activity (GO:0015166)|porin activity (GO:0015288)|purine nucleobase transmembrane transporter activity (GO:0005345)|pyrimidine nucleobase transmembrane transporter activity (GO:0005350)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		ATTCCTGTAGTGGGCCCTTTG	0.428																																						ENST00000219919.4																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21						c.(745-747)gTg>gAg		aquaporin 9							179	182	181					15																	58476192		2192	4292	6484	SO:0001583	missense	366				cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	g.chr15:58476192T>A	AF016495	CCDS10165.1	15q	2005-09-20			ENSG00000103569	ENSG00000103569		"Ion channels / Aquaporins"	643	protein-coding gene	gene with protein product		602914					Standard	NM_020980		Approved	SSC1, HsT17287	uc002aez.2	O43315	OTTHUMG00000132631	ENST00000219919.4:c.746T>A	15.37:g.58476192T>A	ENSP00000219919:p.Val249Glu					AQP9_ENST00000536493.1_Missense_Mutation_p.V249E|AQP9_ENST00000558772.1_Missense_Mutation_p.V184E|ALDH1A2_ENST00000558231.1_Intron	p.V249E	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN		GBM - Glioblastoma multiforme(80;0.16)	6	1116	+			249					Q9NP32	Missense_Mutation	SNP	ENST00000219919.4	37	c.746T>A	CCDS10165.1	.	.	.	.	.	.	.	.	.	.	T	16.93	3.257331	0.59321	.	.	ENSG00000103569	ENST00000219919;ENST00000536493	T;T	0.17691	2.26;2.26	5.84	5.84	0.93424	Aquaporin-like (2);	0.204155	0.33364	N	0.004993	T	0.56381	0.1981	H	0.96048	3.76	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	T	0.71484	-0.4579	10	0.87932	D	0	.	15.8781	0.79182	0.0:0.0:0.0:1.0	.	249	O43315	AQP9_HUMAN	E	249	ENSP00000219919:V249E;ENSP00000441390:V249E	ENSP00000219919:V249E	V	+	2	0	AQP9	56263484	1.000000	0.71417	0.963000	0.40424	0.231000	0.25187	4.388000	0.59633	2.231000	0.72958	0.533000	0.62120	GTG		0.428	AQP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255878.2	NM_020980		47	60	0	0	0	1	0	47	60					A	58476192	T	A	58476192	3	1	134	1	0	0	0	0	1	0	0	0	833	1696	59	5	768	5	AQP9	15	58476192	Missense_Mutation	SNP	T	TCGA-DJ-A3V3-01A-11D-A22Z-08		58476192	44055200	6	2837											
IL9R	3581	broad.mit.edu	37	chrX	155239821	155239821	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaGcaacaacaacaactactgtg	9	13	0	0			TCGA-DJ-A3V3-01A-11D-A22Z-08	TCGA-DJ-A3V3-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d012ddd7-fcd6-4551-b1b1-d80ee5909894	05824ae9-7726-4f77-bd87-857be39089f3	g.chrX:155239821G>A	ENST00000244174.5	+	9	1492	c.1313G>A	c.(1312-1314)aGc>aAc	p.S438N	IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000424344.3_Missense_Mutation_p.S417N|IL9R_ENST00000369423.2_3'UTR	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	438	Poly-Ser.			S -> SS (in Ref. 1; AAA58679 and 4; AAL55435). {ECO:0000305}.	cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					agcagcagcagcaacaacaac	0.642																																						ENST00000424344.3																			0				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23						c.(1249-1251)aGc>aAc		interleukin 9 receptor		G	ASN/SER	62,4206		2,58,2074	8	15	13		1313		0.0	X	dbSNP_134	13	18,8496		0,18,4239	no	missense	IL9R	NM_002186.2	46	2,76,6313	AA,AG,GG		0.2114,1.4527,0.6259		438/522	155239821	80,12702	2134	4257	6391	SO:0001583	missense	3581				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	g.chrX:155239821G>A	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"Pseudoautosomal regions / PAR2", "Interleukins and interleukin receptors", "CD molecules"	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.1313G>A	X.37:g.155239821G>A	ENSP00000244174:p.Ser438Asn					IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000244174.5_Missense_Mutation_p.S438N	p.S417N			Q01113	IL9R_HUMAN			10	1617	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		438					B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	ENST00000244174.5	37	c.1250G>A	CCDS14771.4	.	.	.	.	.	.	.	.	.	.	g	4.299	0.054780	0.08291	0.014527	0.002114	ENSG00000124334	ENST00000244174;ENST00000424344	T;T	0.12039	2.72;2.72	.	.	.	.	39.681300	0.00166	N	0.000000	T	0.09730	0.0239	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29912	-0.9996	5	0.52906	T	0.07	.	.	.	.	.	438	Q01113	IL9R_HUMAN	N	438;417	ENSP00000244174:S438N;ENSP00000388918:S417N	ENSP00000244174:S438N	S	+	2	0	IL9R	154893015	0.004000	0.15560	0.015000	0.15790	0.015000	0.08874	0.112000	0.15479	0.099000	0.17552	0.100000	0.15512	AGC		0.642	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186		3	18	0	0	0	1	0	3	18					A	155239821	G	A	155239821	3	1	134	1	0	0	0	0	1	0	0	0	7708	971	34	2	1347	2	IL9R	23	155239821	Missense_Mutation	SNP	G	TCGA-DJ-A3V3-01A-11D-A22Z-08		155239821	30739	7	2838											
NOC2L	26155	broad.mit.edu	37	chr1	887945	887945	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gggagggcaccaggcgaggtGaacttgcagttcctcacata	14	10	1	1	rs369677542		TCGA-DJ-A3V4-01A-11D-A22Z-08	TCGA-DJ-A3V4-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482	11790be6-dc18-46cf-80b9-071c1a1a611c	g.chr1:887945G>T	ENST00000327044.6	-	10	1087	c.1038C>A	c.(1036-1038)ttC>ttA	p.F346L	NOC2L_ENST00000487214.1_5'Flank	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	346					apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	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;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CAGGCGAGGTGAACTTGCAGT	0.617																																						ENST00000327044.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16						c.(1036-1038)ttC>ttA		nucleolar complex associated 2 homolog (S. cerevisiae)							82	82	82					1																	887945		2203	4300	6503	SO:0001583	missense	26155					nucleolus	protein binding	g.chr1:887945G>T	AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12"	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.1038C>A	1.37:g.887945G>T	ENSP00000317992:p.Phe346Leu						p.F346L	NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	10	1087	-	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)	346					Q5SVA3|Q9BTN6	Missense_Mutation	SNP	ENST00000327044.6	37	c.1038C>A	CCDS3.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.333351	0.60853	.	.	ENSG00000188976	ENST00000327044	T	0.65364	-0.15	5.06	4.15	0.48705	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75221	0.3820	M	0.65975	2.015	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.76903	-0.2787	10	0.87932	D	0	-30.347	10.9832	0.47508	0.159:0.0:0.841:0.0	.	346;346;113	B3KNC3;Q9Y3T9;Q9H9J5	.;NOC2L_HUMAN;.	L	346	ENSP00000317992:F346L	ENSP00000317992:F346L	F	-	3	2	NOC2L	877808	1.000000	0.71417	1.000000	0.80357	0.300000	0.27592	2.448000	0.44926	1.104000	0.41587	0.462000	0.41574	TTC		0.617	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1	NM_015658		4	99	1	0	0.00909568	1	0.00944551	4	99					T	887945	G	T	887945	3	4	135	1	0	0	0	0	1	0	0	0	10513	1281	45	4	1251	4	NOC2L	1	887945	Missense_Mutation	SNP	G	TCGA-DJ-A3V4-01A-11D-A22Z-08		887945	248362676	1	2839											
ARID1A	8289	broad.mit.edu	37	chr1	27099905	27099905	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggatgggtgacccctacagtCgtgctgccggccctgggcta	15	13	0	1			TCGA-DJ-A3V4-01A-11D-A22Z-08	TCGA-DJ-A3V4-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482	11790be6-dc18-46cf-80b9-071c1a1a611c	g.chr1:27099905C>A	ENST00000324856.7	+	15	4155	c.3784C>A	c.(3784-3786)Cgt>Agt	p.R1262S	ARID1A_ENST00000540690.1_De_novo_Start_OutOfFrame|ARID1A_ENST00000374152.2_Missense_Mutation_p.R879S|ARID1A_ENST00000457599.2_Missense_Mutation_p.R1262S	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1262					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCCTACAGTCGTGCTGCCGG	0.592			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																	ENST00000540690.1				Rec	yes		1	1p35.3	8289	"Mis, N, F, S, D"	AT rich interactive domain 1A (SWI-like)			E			"clear cell ovarian carcinoma, RCC"	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411								AT rich interactive domain 1A (SWI-like)							64	61	62					1																	27099905		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27099905C>A	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3784C>A	1.37:g.27099905C>A	ENSP00000320485:p.Arg1262Ser					ARID1A_ENST00000374152.2_Missense_Mutation_p.R879S|ARID1A_ENST00000457599.2_Missense_Mutation_p.R1262S|ARID1A_ENST00000324856.7_Missense_Mutation_p.R1262S				O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	0	93	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)						D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Translation_Start_Site	SNP	ENST00000324856.7	37		CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.28|12.28	1.889343|1.889343	0.33348|0.33348	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152|ENST00000430799	T;T;T|.	0.03212|.	4.16;4.05;4.01|.	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.70971|.	0.3285|.	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	P;P;P;P|.	0.48162|.	0.891;0.848;0.906;0.848|.	B;B;B;B|.	0.42462|.	0.203;0.217;0.388;0.274|.	T|.	0.71384|.	-0.4609|.	10|.	0.16420|0.51188	T|T	0.52|0.08	-0.9968|-0.9968	18.5413|18.5413	0.91029|0.91029	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	879;1262;1262;915|.	O14497-3;O14497;O14497-2;Q4LE49|.	.;ARI1A_HUMAN;.;.|.	S|X	1262;1262;879|158	ENSP00000320485:R1262S;ENSP00000387636:R1262S;ENSP00000363267:R879S|.	ENSP00000320485:R1262S|ENSP00000390317:S158X	R|S	+|+	1|2	0|0	ARID1A|ARID1A	26972492|26972492	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	4.352000|4.352000	0.59404|0.59404	2.627000|2.627000	0.88993|0.88993	0.655000|0.655000	0.94253|0.94253	CGT|TCG		0.592	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		3	64	1	0	1	1	1	3	64					A	27099905	C	A	27099905	3	1	135	1	0	0	0	0	1	0	0	0	913	884	31	4	3842	4	ARID1A	1	27099905	Missense_Mutation	SNP	C	TCGA-DJ-A3V4-01A-11D-A22Z-08	26211960	27099905	222150716	2	2840											
WDTC1	23038	broad.mit.edu	37	chr1	27623608	27623608	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caatggcctgcaccttcataGcaatggcttccggctgccgg	11	14	1	0			TCGA-DJ-A3V4-01A-11D-A22Z-08	TCGA-DJ-A3V4-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482	11790be6-dc18-46cf-80b9-071c1a1a611c	g.chr1:27623608G>C	ENST00000319394.3	+	11	1554	c.1019G>C	c.(1018-1020)aGc>aCc	p.S340T	WDTC1_ENST00000361771.3_Missense_Mutation_p.S339T	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	340					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CACCTTCATAGCAATGGCTTC	0.557											OREG0013279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000319394.3																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21						c.(1018-1020)aGc>aCc		WD and tetratricopeptide repeats 1							131	97	108					1																	27623608		2203	4300	6503	SO:0001583	missense	23038						protein binding	g.chr1:27623608G>C	AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"DDB1 and CUL4 associated factors", "WD repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29175	protein-coding gene	gene with protein product	"adipose homolog (Drosophila)", "DDB1 and CUL4 associated factor 9"					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.1019G>C	1.37:g.27623608G>C	ENSP00000317971:p.Ser340Thr		OREG0013279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	795	WDTC1_ENST00000361771.3_Missense_Mutation_p.S339T	p.S340T	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)	11	1554	+		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	340					D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Missense_Mutation	SNP	ENST00000319394.3	37	c.1019G>C		.	.	.	.	.	.	.	.	.	.	G	14.64	2.595794	0.46318	.	.	ENSG00000142784	ENST00000319394;ENST00000361771	T;T	0.61627	0.09;0.11	5.73	5.73	0.89815	WD40 repeat-like-containing domain (1);	0.135817	0.64402	D	0.000002	T	0.50292	0.1607	N	0.08118	0	0.48452	D	0.999653	B;B	0.26041	0.14;0.0	P;B	0.45449	0.481;0.001	T	0.45614	-0.9249	10	0.11794	T	0.64	.	17.0413	0.86490	0.0:0.0:1.0:0.0	.	340;339	Q8N5D0;Q8N5D0-4	WDTC1_HUMAN;.	T	340;339	ENSP00000317971:S340T;ENSP00000355317:S339T	ENSP00000317971:S340T	S	+	2	0	WDTC1	27496195	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.734000	0.74801	2.701000	0.92244	0.655000	0.94253	AGC		0.557	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015023		3	19	0	0	0	1	0	3	19					C	27623608	G	C	27623608	3	2	135	1	0	0	0	0	1	0	0	0	17339	971	34	4	1054	4	WDTC1	1	27623608	Missense_Mutation	SNP	G	TCGA-DJ-A3V4-01A-11D-A22Z-08	523703	27623608	221627013	3	2841											
PRPF38A	84950	broad.mit.edu	37	chr1	52874249	52874249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtctctcaggtatgtccGcatgctgggggcactttaca	11	11	3	0			TCGA-DJ-A3V4-01A-11D-A22Z-08	TCGA-DJ-A3V4-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482	11790be6-dc18-46cf-80b9-071c1a1a611c	g.chr1:52874249G>A	ENST00000257181.9	+	3	485	c.299G>A	c.(298-300)cGc>cAc	p.R100H	snoU13_ENST00000458879.1_RNA|PRPF38A_ENST00000474048.1_Intron	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN	pre-mRNA processing factor 38A	100					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						AGGTATGTCCGCATGCTGGGG	0.443																																						ENST00000257181.9																			0				cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						c.(298-300)cGc>cAc		pre-mRNA processing factor 38A							97	90	92					1																	52874249		2203	4300	6503	SO:0001583	missense	84950				mRNA processing|RNA splicing	spliceosomal complex		g.chr1:52874249G>A	AK092038	CCDS567.1	1p32.3	2013-10-03	2013-10-03		ENSG00000134748	ENSG00000134748			25930	protein-coding gene	gene with protein product			"PRP38 pre-mRNA processing factor 38 (yeast) domain containing A"			12477932	Standard	NM_032864		Approved	FLJ14936, Prp38	uc001ctw.4	Q8NAV1	OTTHUMG00000008199	ENST00000257181.9:c.299G>A	1.37:g.52874249G>A	ENSP00000257181:p.Arg100His					PRPF38A_ENST00000474048.1_Intron	p.R100H	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN			3	485	+			100					Q96JW1|Q9BVZ8	Missense_Mutation	SNP	ENST00000257181.9	37	c.299G>A	CCDS567.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.868862	0.91587	.	.	ENSG00000134748	ENST00000257181	.	.	.	5.37	5.37	0.77165	.	0.097798	0.64402	D	0.000001	D	0.87759	0.6258	H	0.95574	3.69	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.91304	0.5069	9	0.87932	D	0	-13.099	19.1028	0.93281	0.0:0.0:1.0:0.0	.	100	Q8NAV1	PR38A_HUMAN	H	100	.	ENSP00000257181:R100H	R	+	2	0	PRPF38A	52646837	1.000000	0.71417	1.000000	0.80357	0.553000	0.35397	9.722000	0.98770	2.507000	0.84556	0.557000	0.71058	CGC		0.443	PRPF38A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022459.2	NM_032864		4	89	0	0	0	1	0	4	89					A	52874249	G	A	52874249	3	1	135	1	0	0	0	0	1	0	0	0	12567	1087	38	1	309	1	PRPF38A	1	52874249	Missense_Mutation	SNP	G	TCGA-DJ-A3V4-01A-11D-A22Z-08	25250641	52874249	196376372	4	2842											
MYO7B	4648	broad.mit.edu	37	chr2	128380909	128380909	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctcacaagcagggcctcagcGaccacctgggcttctccctc	9	18	3	0			TCGA-DJ-A3V4-01A-11D-A22Z-08	TCGA-DJ-A3V4-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482	11790be6-dc18-46cf-80b9-071c1a1a611c	g.chr2:128380909G>T	ENST00000409816.2	+	27	3732	c.3700G>T	c.(3700-3702)Gac>Tac	p.D1234Y	MYO7B_ENST00000409090.1_Missense_Mutation_p.D87Y|MYO7B_ENST00000428314.1_Missense_Mutation_p.D1234Y|MYO7B_ENST00000389524.4_Missense_Mutation_p.D1234Y|RP11-286H15.1_ENST00000609697.1_RNA			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1234	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGGCCTCAGCGACCACCTGGG	0.632																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(3700-3702)Gac>Tac		myosin VIIB							51	61	58					2																	128380909		2144	4238	6382	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128380909G>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.3700G>T	2.37:g.128380909G>T	ENSP00000386461:p.Asp1234Tyr					MYO7B_ENST00000428314.1_Missense_Mutation_p.D1234Y|MYO7B_ENST00000409816.2_Missense_Mutation_p.D1234Y|MYO7B_ENST00000409090.1_Missense_Mutation_p.D87Y	p.D1234Y			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	28	3753	+	Colorectal(110;0.1)		1234			FERM 1.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.3700G>T	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	.	24.8	4.572391	0.86542	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000437387;ENST00000409090	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08	4.82	4.82	0.62117	Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.89291	0.6673	M	0.87827	2.91	0.53688	D	0.999977	D	0.89917	1.0	D	0.80764	0.994	D	0.90998	0.4840	10	0.59425	D	0.04	.	16.6443	0.85172	0.0:0.0:1.0:0.0	.	1234	Q6PIF6	MYO7B_HUMAN	Y	1234;1234;87;1234;87;87	ENSP00000374175:D1234Y;ENSP00000415090:D1234Y;ENSP00000386461:D1234Y;ENSP00000404927:D87Y;ENSP00000386850:D87Y	ENSP00000272666:D87Y	D	+	1	0	MYO7B	128097379	1.000000	0.71417	0.912000	0.35992	0.839000	0.47603	9.381000	0.97205	2.217000	0.71921	0.491000	0.48974	GAC		0.632	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		8	30	1	0	3.09899e-07	1	3.3469e-07	8	30					T	128380909	G	T	128380909	3	4	135	1	0	0	0	0	1	0	0	0	10083	1058	37	4	3806	4	MYO7B	2	128380909	Missense_Mutation	SNP	G	TCGA-DJ-A3V4-01A-11D-A22Z-08		128380909	114818464	5	2843											
DLX2	1746	broad.mit.edu	37	chr2	172967129	172967131	+	In_Frame_Del	DEL	GCT	GCT	-													gactcctggggcttgtggagGctgctgctgctgctgctgtt					rs376692475		TCGA-DJ-A3V4-01A-11D-A22Z-08	TCGA-DJ-A3V4-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482	11790be6-dc18-46cf-80b9-071c1a1a611c	g.chr2:172967129_172967131delGCT	ENST00000234198.4	-	1	497_499	c.136_138delAGC	c.(136-138)agcdel	p.S46del	AC104801.1_ENST00000448117.1_lincRNA|DLX2_ENST00000466293.2_In_Frame_Del_p.S46del	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	46	Poly-Ser.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|cartilage development (GO:0051216)|cerebral cortex GABAergic interneuron fate commitment (GO:0021893)|embryonic cranial skeleton morphogenesis (GO:0048701)|hippocampus development (GO:0021766)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|subpallium development (GO:0021544)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded RNA binding (GO:0003727)			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GCTTGTGGAGgctgctgctgctg	0.739																																					GBM(188;775 2993 11256 23072)	ENST00000234198.4																			0				endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11						c.(136-138)del		distal-less homeobox 2				19,76,3319		3,0,13,8,60,1623						4.5	1.0			15	96,156,6524		10,3,73,15,123,3164	no	codingComplex	DLX2	NM_004405.3		13,3,86,23,183,4787	A1A1,A1A2,A1R,A2A2,A2R,RR		3.719,2.7827,3.4053				115,232,9843				SO:0001651	inframe_deletion	1746					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:172967129_172967131delGCT	U51003	CCDS2248.1	2q31.1	2011-06-20	2005-12-22		ENSG00000115844	ENSG00000115844		"Homeoboxes / ANTP class : NKL subclass"	2915	protein-coding gene	gene with protein product		126255	"distal-less homeo box 2"			1354641	Standard	NM_004405		Approved	TES-1	uc002uhn.3	Q07687	OTTHUMG00000132276	ENST00000234198.4:c.136_138delAGC	2.37:g.172967138_172967140delGCT	ENSP00000234198:p.Ser46del					DLX2_ENST00000466293.2_In_Frame_Del_p.S46del	p.S46del	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		1	497_499	-			46			Poly-Ser.		B4DMK4|B7ZA14	In_Frame_Del	DEL	ENST00000234198.4	37	c.136_138delAGC	CCDS2248.1																																																																																				0.739	DLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255368.3			2	4						2	4	---	---	---	---	-	172967131	GCT	-	172967129	7	5	135	1	0	1	0	1	0	0	0	0	4571	1194	42	0	860	0	DLX2	2	172967129	In_Frame_Del	DEL	GCT	TCGA-DJ-A3V4-01A-11D-A22Z-08	44586220	172967129	70232244	6	2844											
STATH	6779	broad.mit.edu	37	chr4	70865527	70865527	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagaattggaagattcggtGtaagtgttctctgataatgc	12	4	1	3			TCGA-DJ-A3V4-01A-11D-A22Z-08	TCGA-DJ-A3V4-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482	11790be6-dc18-46cf-80b9-071c1a1a611c	g.chr4:70865527G>A	ENST00000246895.4	+	4	213		c.e4+1		STATH_ENST00000381060.2_Intron	NM_003154.2	NP_003145.1	P02808	STAT_HUMAN	statherin						biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|ossification (GO:0001503)|saliva secretion (GO:0046541)	extracellular region (GO:0005576)	extracellular matrix constituent, lubricant activity (GO:0030197)|hydroxyapatite binding (GO:0046848)|structural constituent of tooth enamel (GO:0030345)			lung(2)|skin(1)	3						AAGATTCGGTGTAAGTGTTCT	0.299																																						ENST00000246895.4																			0				lung(2)|skin(1)	3						c.e4+1		statherin							135	138	137					4																	70865527		2203	4298	6501	SO:0001630	splice_region_variant	6779				biomineral tissue development|negative regulation of bone mineralization|ossification|saliva secretion	extracellular region	extracellular matrix constituent, lubricant activity|hydroxyapatite binding|protein binding|structural constituent of tooth enamel	g.chr4:70865527G>A		CCDS3533.1, CCDS33998.1	4q13.3	2012-10-02			ENSG00000126549	ENSG00000126549			11369	protein-coding gene	gene with protein product		184470				3502720	Standard	NM_003154		Approved	STR	uc003heu.1	P02808	OTTHUMG00000129394	ENST00000246895.4:c.102+1G>A	4.37:g.70865527G>A						STATH_ENST00000381060.2_Intron		NM_003154.2	NP_003145.1	P02808	STAT_HUMAN			4	213	+								A6NKE9|B2R4F8	Splice_Site	SNP	ENST00000246895.4	37		CCDS3533.1	.	.	.	.	.	.	.	.	.	.	G	9.371	1.070627	0.20147	.	.	ENSG00000126549	ENST00000246895	.	.	.	3.3	3.3	0.37823	.	.	.	.	.	.	.	.	.	.	.	0.47476	D	0.999437	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3831	0.44123	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STATH	70900116	0.000000	0.05858	0.227000	0.23927	0.063000	0.16089	0.078000	0.14761	2.133000	0.65898	0.655000	0.94253	.		0.299	STATH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251550.1	NM_003154	Intron	16	29	0	0	0	1	0	16	29					A	70865527	G	A	70865527	5	1	135	1	0	0	0	0	0	0	1	0	15270	1391	48	2	113	2	STATH	4	70865527	Splice_Site	SNP	G	TCGA-DJ-A3V4-01A-11D-A22Z-08		70865527	120288749	7	2845											
GPR115	221393	broad.mit.edu	37	chr6	47681877	47681877	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catagctttcccaaccttggGggctatcctgagagaagccc	10	13	0	2			TCGA-DJ-A3V4-01A-11D-A22Z-08	TCGA-DJ-A3V4-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482	11790be6-dc18-46cf-80b9-071c1a1a611c	g.chr6:47681877G>T	ENST00000283303.2	+	6	1154	c.896G>T	c.(895-897)gGg>gTg	p.G299V	RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000327753.3_Missense_Mutation_p.G299V|GPR115_ENST00000371220.1_Missense_Mutation_p.G356V	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	299					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CCAACCTTGGGGGCTATCCTG	0.468																																					GBM(22;431 510 9010 26644 32828)	ENST00000283303.2																			0				NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						c.(895-897)gGg>gTg		G protein-coupled receptor 115							54	59	57					6																	47681877		2203	4300	6503	SO:0001583	missense	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47681877G>T	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"-", "GPCR / Class B : Orphans"	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.896G>T	6.37:g.47681877G>T	ENSP00000283303:p.Gly299Val					GPR115_ENST00000371220.1_Missense_Mutation_p.G356V|GPR115_ENST00000327753.3_Missense_Mutation_p.G299V	p.G299V	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN			6	1154	+			299					B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	ENST00000283303.2	37	c.896G>T	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169392	0.38315	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.39056	1.34;1.1;1.1	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000001	T	0.58864	0.2152	M	0.82323	2.585	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	T	0.64732	-0.6338	10	0.87932	D	0	-17.887	11.5523	0.50726	0.0819:0.0:0.9181:0.0	.	299	Q8IZF3	GP115_HUMAN	V	356;299;299	ENSP00000360264:G356V;ENSP00000328319:G299V;ENSP00000283303:G299V	ENSP00000283303:G299V	G	+	2	0	GPR115	47789836	0.999000	0.42202	0.998000	0.56505	0.260000	0.26232	3.083000	0.50136	2.578000	0.87016	0.655000	0.94253	GGG		0.468	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		22	26	1	0	1.50039e-11	1	1.76133e-11	22	26					T	47681877	G	T	47681877	3	4	135	1	0	0	0	0	1	0	0	0	6632	1232	43	4	914	4	GPR115	6	47681877	Missense_Mutation	SNP	G	TCGA-DJ-A3V4-01A-11D-A22Z-08		47681877	123433190	8	2846											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3V4-01A-11D-A22Z-08	TCGA-DJ-A3V4-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482	11790be6-dc18-46cf-80b9-071c1a1a611c	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		31	63	0	0	0	1	0	31	63					T	140453136	A	T	140453136	3	4	135	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3V4-01A-11D-A22Z-08		140453136	18685527	9	2847											
CACNA1B	774	broad.mit.edu	37	chr9	141015112	141015112	+	Frame_Shift_Del	DEL	C	C	-													gtgctgtggggccggggctgCccccgggagaggggcctaca							TCGA-DJ-A3V4-01A-11D-A22Z-08	TCGA-DJ-A3V4-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482	11790be6-dc18-46cf-80b9-071c1a1a611c	g.chr9:141015112delC	ENST00000371372.1	+	46	6413	c.6268delC	c.(6268-6270)cccfs	p.P2091fs	CACNA1B_ENST00000371355.4_Frame_Shift_Del_p.P2092fs|CACNA1B_ENST00000371357.1_Frame_Shift_Del_p.P2090fs|CACNA1B_ENST00000277549.5_Frame_Shift_Del_p.P1285fs|CACNA1B_ENST00000371363.1_Frame_Shift_Del_p.P2089fs|CACNA1B_ENST00000277551.2_Frame_Shift_Del_p.P2091fs	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2091					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GCCGGGGCTGCCCCCGGGAGA	0.731																																						ENST00000277549.5																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(3850-3852)ccfs		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						3	4	4					9																	141015112		1601	3707	5308	SO:0001589	frameshift_variant	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:141015112delC	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.6268delC	9.37:g.141015112delC	ENSP00000360423:p.Pro2091fs					CACNA1B_ENST00000277551.2_Frame_Shift_Del_p.P2091fs|CACNA1B_ENST00000371355.4_Frame_Shift_Del_p.P2092fs|CACNA1B_ENST00000371357.1_Frame_Shift_Del_p.P2090fs|CACNA1B_ENST00000371363.1_Frame_Shift_Del_p.P2089fs|CACNA1B_ENST00000371372.1_Frame_Shift_Del_p.P2091fs	p.P1285fs			Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	46	6419	+	all_cancers(76;0.166)		2091					B1AQK5	Frame_Shift_Del	DEL	ENST00000371372.1	37	c.3850delC	CCDS59522.1																																																																																				0.731	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		2	4						2	4	---	---	---	---	-	141015112	C	-	141015112	7	5	135	1	0	1	0	1	0	0	0	0	2539	739	26	0	6446	0	CACNA1B	9	141015112	Frame_Shift_Del	DEL	C	TCGA-DJ-A3V4-01A-11D-A22Z-08		141015112	198319	10	2848											
SF1	7536	broad.mit.edu	37	chr11	64535651	64535651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtggtggcaggcccagagGtggagcccacagatgctggg	19	9	0	2			TCGA-DJ-A3V4-01A-11D-A22Z-08	TCGA-DJ-A3V4-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482	11790be6-dc18-46cf-80b9-071c1a1a611c	g.chr11:64535651G>A	ENST00000377390.3	-	9	1332	c.995C>T	c.(994-996)aCc>aTc	p.T332I	SF1_ENST00000334944.5_Missense_Mutation_p.T332I|SF1_ENST00000433274.2_Missense_Mutation_p.T306I|SF1_ENST00000227503.9_Missense_Mutation_p.T332I|SF1_ENST00000422298.2_Missense_Mutation_p.T217I|SF1_ENST00000377387.1_Missense_Mutation_p.T457I|SF1_ENST00000377394.3_Missense_Mutation_p.T332I|SF1_ENST00000489544.1_5'UTR	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	332	Pro-rich.				Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						AGGCCCAGAGGTGGAGCCCAC	0.607											OREG0004010|OREG0021062	type=REGULATORY REGION|Gene=LOC476031|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377390.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						c.(994-996)aCc>aTc		splicing factor 1							74	64	67					11																	64535651		2201	4297	6498	SO:0001583	missense	7536				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	g.chr11:64535651G>A	D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"Zinc fingers, CCHC domain containing"	12950	protein-coding gene	gene with protein product		601516	"zinc finger protein 162"	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.995C>T	11.37:g.64535651G>A	ENSP00000366607:p.Thr332Ile		OREG0004010|OREG0021062	type=REGULATORY REGION|Gene=LOC476031|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1077	SF1_ENST00000489544.1_5'UTR|SF1_ENST00000377387.1_Missense_Mutation_p.T457I|SF1_ENST00000334944.5_Missense_Mutation_p.T332I|SF1_ENST00000433274.2_Missense_Mutation_p.T306I|SF1_ENST00000377394.3_Missense_Mutation_p.T332I|SF1_ENST00000422298.2_Missense_Mutation_p.T217I|SF1_ENST00000227503.9_Missense_Mutation_p.T332I	p.T332I	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN			9	1332	-			332			Pro-rich.		B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	ENST00000377390.3	37	c.995C>T	CCDS31599.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.290045	0.40494	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000422298;ENST00000433274;ENST00000486867	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	5.41	4.49	0.54785	.	0.625343	0.16313	N	0.219921	T	0.29288	0.0729	N	0.19112	0.55	0.33357	D	0.571787	B;B;B;B;B;P	0.36535	0.182;0.017;0.006;0.013;0.022;0.557	B;B;B;B;B;B	0.36186	0.029;0.002;0.002;0.044;0.095;0.219	T	0.41342	-0.9514	10	0.34782	T	0.22	.	12.4601	0.55727	0.0:0.3236:0.6764:0.0	.	217;332;332;332;332;457	B4DX42;Q15637-6;Q15637-4;Q15637;Q15637-2;Q15637-5	.;.;.;SF01_HUMAN;.;.	I	457;332;332;332;332;217;306;53	ENSP00000366604:T457I;ENSP00000366607:T332I;ENSP00000227503:T332I;ENSP00000366611:T332I;ENSP00000334414:T332I;ENSP00000413084:T217I;ENSP00000396793:T306I;ENSP00000419062:T53I	ENSP00000227503:T332I	T	-	2	0	SF1	64292227	0.059000	0.20769	0.977000	0.42913	0.979000	0.70002	1.263000	0.33004	1.496000	0.48567	0.561000	0.74099	ACC		0.607	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630		3	70	0	0	0	1	0	3	70					A	64535651	G	A	64535651	3	1	135	1	0	0	0	0	1	0	0	0	14145	1261	44	2	1082	2	SF1	11	64535651	Missense_Mutation	SNP	G	TCGA-DJ-A3V4-01A-11D-A22Z-08		64535651	70470865	11	2849											
ATG2B	55102	broad.mit.edu	37	chr14	96788936	96788936	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agatggggctggtcttcttaGatcacaaacatctttcaagg	10	8	5	2			TCGA-DJ-A3V4-01A-11D-A22Z-08	TCGA-DJ-A3V4-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482	11790be6-dc18-46cf-80b9-071c1a1a611c	g.chr14:96788936G>C	ENST00000359933.4	-	17	3570	c.2677C>G	c.(2677-2679)Cta>Gta	p.L893V	snoU13_ENST00000458931.1_RNA	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	893					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GGTCTTCTTAGATCACAAACA	0.398																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(2677-2679)Cta>Gta		autophagy related 2B							96	89	91					14																	96788936		1903	4115	6018	SO:0001583	missense	55102							g.chr14:96788936G>C	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.2677C>G	14.37:g.96788936G>C	ENSP00000353010:p.Leu893Val						p.L893V	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	17	3570	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	893					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.2677C>G	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334991	0.60853	.	.	ENSG00000066739	ENST00000359933	T	0.48201	0.82	5.87	4.8	0.61643	.	0.204801	0.32314	U	0.006269	T	0.40067	0.1102	L	0.52573	1.65	0.34944	D	0.750628	B	0.25719	0.132	B	0.23716	0.048	T	0.52646	-0.8548	10	0.62326	D	0.03	.	8.4015	0.32590	0.1236:0.0:0.7169:0.1594	.	893	Q96BY7	ATG2B_HUMAN	V	893	ENSP00000353010:L893V	ENSP00000353010:L893V	L	-	1	2	ATG2B	95858689	1.000000	0.71417	0.835000	0.33067	0.900000	0.52787	2.618000	0.46393	2.785000	0.95823	0.655000	0.94253	CTA		0.398	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		9	36	0	0	0	1	0	9	36					C	96788936	G	C	96788936	3	2	135	1	0	0	0	0	1	0	0	0	1094	933	33	4	3663	4	ATG2B	14	96788936	Missense_Mutation	SNP	G	TCGA-DJ-A3V4-01A-11D-A22Z-08		96788936	10560604	12	2850											
XRCC3	7517	broad.mit.edu	37	chr14	104169529	104169529	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccacatcggccacgtgctcgAtgaagatctggctgccaaat	10	13	1	2			TCGA-DJ-A3V4-01A-11D-A22Z-08	TCGA-DJ-A3V4-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482	11790be6-dc18-46cf-80b9-071c1a1a611c	g.chr14:104169529A>T	ENST00000553264.1	-	5	1338	c.542T>A	c.(541-543)aTc>aAc	p.I181N	XRCC3_ENST00000554974.1_Intron|XRCC3_ENST00000445556.1_Missense_Mutation_p.I181N|XRCC3_ENST00000554913.1_Missense_Mutation_p.I181N|XRCC3_ENST00000555055.1_Missense_Mutation_p.I181N|XRCC3_ENST00000352127.7_Missense_Mutation_p.I181N|XRCC3_ENST00000555832.1_5'UTR			O43542	XRCC3_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 3	181					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|response to organic substance (GO:0010033)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)		CACGTGCTCGATGAAGATCTG	0.612								Direct reversal of damage;Homologous recombination																														ENST00000553264.1																			0				endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4						c.(541-543)aTc>aAc	Direct reversal of damage;Homologous recombination	X-ray repair complementing defective repair in Chinese hamster cells 3							55	43	47					14																	104169529		2196	4292	6488	SO:0001583	missense	7517				DNA recombination|DNA repair	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr14:104169529A>T	AF035586	CCDS9984.1	14q32.3	2006-05-04				ENSG00000126215			12830	protein-coding gene	gene with protein product	"RAD51-like"	600675				7603995	Standard	NM_001100118		Approved		uc001ynz.4	O43542		ENST00000553264.1:c.542T>A	14.37:g.104169529A>T	ENSP00000451974:p.Ile181Asn					XRCC3_ENST00000554913.1_Missense_Mutation_p.I181N|XRCC3_ENST00000555055.1_Missense_Mutation_p.I181N|XRCC3_ENST00000555832.1_5'UTR|XRCC3_ENST00000445556.1_Missense_Mutation_p.I181N|XRCC3_ENST00000352127.7_Missense_Mutation_p.I181N|XRCC3_ENST00000554974.1_Intron	p.I181N			O43542	XRCC3_HUMAN		Epithelial(152;0.239)	5	1338	-		Melanoma(154;0.155)|all_epithelial(191;0.19)	181					O43568|Q9BU18	Missense_Mutation	SNP	ENST00000553264.1	37	c.542T>A	CCDS9984.1	.	.	.	.	.	.	.	.	.	.	A	15.55	2.867751	0.51588	.	.	ENSG00000126215	ENST00000554913;ENST00000352127;ENST00000553264;ENST00000555055;ENST00000445556	T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35	4.7	4.7	0.59300	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.348228	0.28760	N	0.014229	T	0.80675	0.4668	M	0.80616	2.505	0.41939	D	0.990606	D	0.61080	0.989	D	0.66351	0.943	T	0.82748	-0.0304	10	0.49607	T	0.09	-2.4139	13.8478	0.63479	1.0:0.0:0.0:0.0	.	181	O43542	XRCC3_HUMAN	N	181	ENSP00000451362:I181N;ENSP00000343392:I181N;ENSP00000451974:I181N;ENSP00000452598:I181N;ENSP00000412990:I181N	ENSP00000343392:I181N	I	-	2	0	XRCC3	103239282	0.971000	0.33674	0.055000	0.19348	0.136000	0.21042	8.782000	0.91809	1.737000	0.51674	0.459000	0.35465	ATC		0.612	XRCC3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414631.1	NM_005432		4	5	0	0	0	1	0	4	5					T	104169529	A	T	104169529	3	4	135	1	0	0	0	0	1	0	0	0	17451	333	12	5	514	5	XRCC3	14	104169529	Missense_Mutation	SNP	A	TCGA-DJ-A3V4-01A-11D-A22Z-08	7380593	104169529	3180011	13	2851											
MUC16	94025	broad.mit.edu	37	chr19	9057069	9057069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggtatgtagccttggatGgctccgagtggattgaaaca	14	7	0	1			TCGA-DJ-A3V4-01A-11D-A22Z-08	TCGA-DJ-A3V4-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482	11790be6-dc18-46cf-80b9-071c1a1a611c	g.chr19:9057069G>A	ENST00000397910.4	-	3	30580	c.30377C>T	c.(30376-30378)cCa>cTa	p.P10126L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10128	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCCTTGGATGGCTCCGAGTG	0.463																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(30376-30378)cCa>cTa		mucin 16, cell surface associated							70	69	69					19																	9057069		1936	4134	6070	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9057069G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.30377C>T	19.37:g.9057069G>A	ENSP00000381008:p.Pro10126Leu						p.P10126L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	30580	-			10128			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.30377C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.544	0.285200	0.10513	.	.	ENSG00000181143	ENST00000397910	T	0.25414	1.8	2.95	-0.532	0.11890	.	.	.	.	.	T	0.14313	0.0346	N	0.19112	0.55	.	.	.	B	0.23650	0.089	B	0.20184	0.028	T	0.19549	-1.0302	8	0.87932	D	0	.	5.6686	0.17709	0.387:0.0:0.613:0.0	.	10126	B5ME49	.	L	10126	ENSP00000381008:P10126L	ENSP00000381008:P10126L	P	-	2	0	MUC16	8918069	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.026000	0.12392	-0.002000	0.14469	-0.253000	0.11424	CCA		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		6	62	0	0	0	1	0	6	62					A	9057069	G	A	9057069	3	1	135	1	0	0	0	0	1	0	0	0	9973	1348	47	2	13474	2	MUC16	19	9057069	Missense_Mutation	SNP	G	TCGA-DJ-A3V4-01A-11D-A22Z-08		9057069	50071914	14	2852											
SIGLEC8	27181	broad.mit.edu	37	chr19	51960834	51960834	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagggtgagcactgaggagCgggcagtagtggggcccggg	21	7	0	2	rs200891335		TCGA-DJ-A3V4-01A-11D-A22Z-08	TCGA-DJ-A3V4-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482	11790be6-dc18-46cf-80b9-071c1a1a611c	g.chr19:51960834C>T	ENST00000321424.3	-	2	680	c.614G>A	c.(613-615)cGc>cAc	p.R205H	SIGLEC8_ENST00000430817.1_Intron|SIGLEC8_ENST00000340550.5_Intron|SIGLEC8_ENST00000597352.1_5'UTR	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	205	Ig-like C2-type 1.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CACTGAGGAGCGGGCAGTAGT	0.652													C|||	1	0.000199681	0	0.0014	5008	,	,		17273	0		0	False		,,,				2504	0					ENST00000321424.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50						c.(613-615)cGc>cAc		sialic acid binding Ig-like lectin 8		C	HIS/ARG	2,4404		0,2,2201	50	50	50		614	-5.4	0.0	19		50	0,8600		0,0,4300	no	missense	SIGLEC8	NM_014442.2	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	205/500	51960834	2,13004	2203	4300	6503	SO:0001583	missense	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51960834C>T	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.614G>A	19.37:g.51960834C>T	ENSP00000321077:p.Arg205His					SIGLEC8_ENST00000340550.5_Intron|SIGLEC8_ENST00000430817.1_Intron	p.R205H	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	2	680	-		all_neural(266;0.0199)	205			Ig-like C2-type 1.		Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	c.614G>A	CCDS33086.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	.	0.085	-1.177021	0.01646	4.54E-4	0.0	ENSG00000105366	ENST00000321424	T	0.21932	1.98	2.69	-5.38	0.02673	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	1.843930	0.03177	N	0.171557	T	0.08582	0.0213	N	0.16166	0.38	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.23190	-1.0195	10	0.12103	T	0.63	.	0.1809	0.00123	0.2937:0.1967:0.149:0.3607	.	205	Q9NYZ4	SIGL8_HUMAN	H	205	ENSP00000321077:R205H	ENSP00000321077:R205H	R	-	2	0	SIGLEC8	56652646	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.339000	0.00506	-1.836000	0.01190	-0.442000	0.05670	CGC		0.652	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		21	49	0	0	0	1	0	21	49					T	51960834	C	T	51960834	3	4	135	1	0	0	0	0	1	0	0	0	14314	768	27	1	909	1	SIGLEC8	19	51960834	Missense_Mutation	SNP	C	TCGA-DJ-A3V4-01A-11D-A22Z-08	42903765	51960834	7168149	15	2853											
SIRPG	55423	broad.mit.edu	37	chr20	1629760	1629760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgttctcagggctcccttttCgaaacttcacacagtagtat	7	12	2	0	rs202204320		TCGA-DJ-A3V4-01A-11D-A22Z-08	TCGA-DJ-A3V4-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482	11790be6-dc18-46cf-80b9-071c1a1a611c	g.chr20:1629760C>T	ENST00000303415.3	-	2	432	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	SIRPG_ENST00000344103.4_Missense_Mutation_p.R123Q|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000381583.2_Missense_Mutation_p.R123Q|SIRPG_ENST00000216927.4_Missense_Mutation_p.R123Q|SIRPG_ENST00000381580.1_Missense_Mutation_p.R90Q	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	123	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GCTCCCTTTTCGAAACTTCAC	0.498																																						ENST00000381580.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						c.(268-270)cGa>cAa		signal-regulatory protein gamma		C	GLN/ARG,GLN/ARG,GLN/ARG	1,4405		0,1,2202	245	209	221		368,368,368	-2.9	0.1	20		221	2,8598		0,2,4298	no	missense,missense,missense	SIRPG	NM_001039508.1,NM_018556.3,NM_080816.2	43,43,43	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign,benign,benign	123/277,123/388,123/171	1629760	3,13003	2203	4300	6503	SO:0001583	missense	55423				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	g.chr20:1629760C>T	AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15757	protein-coding gene	gene with protein product		605466	"signal-regulatory protein beta 2"	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.368G>A	20.37:g.1629760C>T	ENSP00000305529:p.Arg123Gln					SIRPG_ENST00000344103.4_Missense_Mutation_p.R123Q|SIRPG_ENST00000381583.2_Missense_Mutation_p.R123Q|SIRPG_ENST00000216927.4_Missense_Mutation_p.R123Q|SIRPG_ENST00000303415.3_Missense_Mutation_p.R123Q	p.R90Q			Q9P1W8	SIRPG_HUMAN			2	448	-			123			Ig-like V-type.		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000303415.3	37	c.269G>A	CCDS13020.2	.	.	.	.	.	.	.	.	.	.	.	4.453	0.083926	0.08583	2.27E-4	2.33E-4	ENSG00000089012	ENST00000381580;ENST00000344103;ENST00000303415;ENST00000381583;ENST00000216927	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	1.93	-2.9	0.05648	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.960224	0.08559	N	0.927852	T	0.24736	0.0600	N	0.02420	-0.555	0.09310	N	1	P;B;B	0.35363	0.497;0.015;0.032	B;B;B	0.28305	0.088;0.003;0.008	T	0.17258	-1.0375	10	0.07644	T	0.81	.	6.3465	0.21353	0.0:0.541:0.0:0.459	.	123;123;123	Q9P1W8-3;Q9P1W8-4;Q9P1W8	.;.;SIRPG_HUMAN	Q	90;123;123;123;123	ENSP00000370992:R90Q;ENSP00000342759:R123Q;ENSP00000305529:R123Q;ENSP00000370995:R123Q;ENSP00000216927:R123Q	ENSP00000216927:R123Q	R	-	2	0	SIRPG	1577760	0.000000	0.05858	0.121000	0.21740	0.654000	0.38779	-2.136000	0.01305	-0.797000	0.04450	0.195000	0.17529	CGA		0.498	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556		6	142	0	0	0	1	0	6	142					T	1629760	C	T	1629760	3	4	135	1	0	0	0	0	1	0	0	0	14336	884	31	1	811	1	SIRPG	20	1629760	Missense_Mutation	SNP	C	TCGA-DJ-A3V4-01A-11D-A22Z-08		1629760	61395760	16	2854											
TNRC6B	23112	broad.mit.edu	37	chr22	40712010	40712010	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctggttcttcacaatctcacCccacaggtaattatgctttc	5	13	3	0			TCGA-DJ-A3V4-01A-11D-A22Z-08	TCGA-DJ-A3V4-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482	11790be6-dc18-46cf-80b9-071c1a1a611c	g.chr22:40712010C>G	ENST00000454349.2	+	21	5179	c.4968C>G	c.(4966-4968)acC>acG	p.T1656T	TNRC6B_ENST00000301923.9_Silent_p.T852T|TNRC6B_ENST00000402203.1_Silent_p.T852T|TNRC6B_ENST00000335727.9_Silent_p.T1546T	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1656	RRM.|Silencing domain; interaction with CNOT1 and PAN3.				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)|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)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						ACAATCTCACCCCACAGGTAA	0.453																																						ENST00000454349.2																			0				breast(1)	1						c.(4966-4968)acC>acG		trinucleotide repeat containing 6B							105	92	96					22																	40712010		1884	4127	6011	SO:0001819	synonymous_variant	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40712010C>G	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"Trinucleotide (CAG) repeat containing"	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.4968C>G	22.37:g.40712010C>G						TNRC6B_ENST00000335727.8_Silent_p.T1546T|TNRC6B_ENST00000301923.9_Silent_p.T852T|TNRC6B_ENST00000402203.1_Silent_p.T852T	p.T1656T	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN			21	5179	+			1656			RRM.		B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Silent	SNP	ENST00000454349.2	37	c.4968C>G	CCDS54533.1	.	.	.	.	.	.	.	.	.	.	C	4.237	0.042857	0.08196	.	.	ENSG00000100354	ENST00000446273	.	.	.	5.65	3.49	0.39957	.	.	.	.	.	T	0.58438	0.2122	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51276	-0.8726	4	.	.	.	-8.5112	8.8498	0.35192	0.0:0.2078:0.0:0.7922	.	.	.	.	R	1342	.	.	P	+	2	0	TNRC6B	39041956	0.991000	0.36638	1.000000	0.80357	0.559000	0.35586	0.201000	0.17276	0.389000	0.25086	-0.414000	0.06135	CCC		0.453	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				6	31	0	0	0	1	0	6	31					G	40712010	C	G	40712010	2	3	135	1	0	0	0	0	0	0	0	1	16338	610	22	4		4	TNRC6B	22	40712010	Silent	SNP	C	TCGA-DJ-A3V4-01A-11D-A22Z-08		40712010	10592556	17	2855											
ARSF	416	broad.mit.edu	37	chrX	3030306	3030306	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acctcattatgcagatgtttCggagaacaggttacctacca	8	10	1	2			TCGA-DJ-A3V4-01A-11D-A22Z-08	TCGA-DJ-A3V4-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482	11790be6-dc18-46cf-80b9-071c1a1a611c	g.chrX:3030306C>T	ENST00000381127.1	+	11	1703	c.1482C>T	c.(1480-1482)ttC>ttT	p.F494F	ARSF_ENST00000537104.1_Silent_p.F494F|ARSF_ENST00000359361.2_Silent_p.F494F	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	494					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		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)				GCAGATGTTTCGGAGAACAGG	0.572																																						ENST00000381127.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38						c.(1480-1482)ttC>ttT		arylsulfatase F							110	102	105					X																	3030306		2203	4300	6503	SO:0001819	synonymous_variant	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:3030306C>T	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"Arylsulfatase family"	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.1482C>T	X.37:g.3030306C>T						ARSF_ENST00000359361.2_Silent_p.F494F|ARSF_ENST00000537104.1_Silent_p.F494F	p.F494F	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN			11	1703	+		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)	494					Q8TCC5	Silent	SNP	ENST00000381127.1	37	c.1482C>T	CCDS14123.1																																																																																				0.572	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			5	152	0	0	0	1	0	5	152					T	3030306	C	T	3030306	2	4	135	1	0	0	0	0	0	0	0	1	991	883	31	1		1	ARSF	23	3030306	Silent	SNP	C	TCGA-DJ-A3V4-01A-11D-A22Z-08		3030306	152240254	18	2856											
L1CAM	3897	broad.mit.edu	37	chrX	153130322	153130322	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtacgatggcttcaccaggGccctctttggtggtggcctg	14	12	2	0	rs149420127		TCGA-DJ-A3V4-01A-11D-A22Z-08	TCGA-DJ-A3V4-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482	11790be6-dc18-46cf-80b9-071c1a1a611c	g.chrX:153130322G>A	ENST00000370060.1	-	23	3189	c.3000C>T	c.(2998-3000)ggC>ggT	p.G1000G	L1CAM_ENST00000361699.4_Silent_p.G1000G|L1CAM_ENST00000370055.1_Silent_p.G995G|L1CAM_ENST00000538883.1_Silent_p.G1002G|L1CAM_ENST00000370057.3_Silent_p.G1000G|L1CAM_ENST00000543994.1_Silent_p.G1002G|L1CAM_ENST00000361981.3_Silent_p.G995G	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1000	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)	p.G1000G(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTCACCAGGGCCCTCTTTGG	0.632																																						ENST00000370060.1																			1	Substitution - coding silent(1)	p.G1000G(1)	large_intestine(1)	NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(2998-3000)ggC>ggT		L1 cell adhesion molecule		G	,,	0,3835		0,0,1632,571	121	113	115		3000,2985,3000	-1.8	0.5	X	dbSNP_134	115	1,6727		0,1,2427,1872	no	coding-synonymous,coding-synonymous,coding-synonymous	L1CAM	NM_000425.3,NM_001143963.1,NM_024003.2	,,	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	,,	1000/1258,995/1249,1000/1254	153130322	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153130322G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.3000C>T	X.37:g.153130322G>A						L1CAM_ENST00000361981.3_Silent_p.G995G|L1CAM_ENST00000361699.4_Silent_p.G1000G|L1CAM_ENST00000370055.1_Silent_p.G995G|L1CAM_ENST00000543994.1_Silent_p.G1002G|L1CAM_ENST00000538883.1_Silent_p.G1002G|L1CAM_ENST00000370057.3_Silent_p.G1000G	p.G1000G	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			23	3189	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1000			Fibronectin type-III 4.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Silent	SNP	ENST00000370060.1	37	c.3000C>T	CCDS14733.1																																																																																				0.632	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		6	261	0	0	0	1	0	6	261					A	153130322	G	A	153130322	2	1	135	1	0	0	0	0	0	0	0	1	8588	1190	42	2		2	L1CAM	23	153130322	Silent	SNP	G	TCGA-DJ-A3V4-01A-11D-A22Z-08	150100016	153130322	2140238	19	2857											
PSMD14	10213	broad.mit.edu	37	chr2	162226642	162226642	+	Frame_Shift_Del	DEL	C	C	-													tcagtgtggaggcagttgatCcagtgttccaagctaaaatg							TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr2:162226642delC	ENST00000409682.3	+	6	969	c.265delC	c.(265-267)ccafs	p.P89fs		NM_005805.5	NP_005796.1	O00487	PSDE_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 14	89	MPN.				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)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|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 ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K63-linked deubiquitination (GO:0070536)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle, lid subcomplex (GO:0008541)	endopeptidase activator activity (GO:0061133)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|proteasome binding (GO:0070628)|ubiquitin thiolesterase activity (GO:0004221)			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	12						GGCAGTTGATCCAGTGTTCCA	0.313																																						ENST00000409682.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	12						c.(265-267)cafs		proteasome (prosome, macropain) 26S subunit, non-ATPase, 14							71	67	69					2																	162226642		1894	4131	6025	SO:0001589	frameshift_variant	10213				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 ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K63-linked deubiquitination|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	endopeptidase activator activity|metal ion binding|metallopeptidase activity|proteasome binding|ubiquitin thiolesterase activity	g.chr2:162226642delC	U86782	CCDS46437.1	2q14.3	2008-05-22			ENSG00000115233	ENSG00000115233		"Proteasome (prosome, macropain) subunits"	16889	protein-coding gene	gene with protein product		607173				9374539	Standard	NM_005805		Approved	POH1, pad1, Rpn11	uc002ubu.3	O00487	OTTHUMG00000153882	ENST00000409682.3:c.265delC	2.37:g.162226642delC	ENSP00000386541:p.Pro89fs						p.P89fs	NM_005805.5	NP_005796.1	O00487	PSDE_HUMAN			6	969	+			89			MPN.		B3KNW2|O00176	Frame_Shift_Del	DEL	ENST00000409682.3	37	c.265delC	CCDS46437.1																																																																																				0.313	PSMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332833.1	NM_005805		2	4						2	4	---	---	---	---	-	162226642	C	-	162226642	7	5	136	1	0	1	0	1	0	0	0	0	12697	855	30	0	279	0	PSMD14	2	162226642	Frame_Shift_Del	DEL	C	TCGA-DJ-A3V5-01A-11D-A22Z-08		162226642	80972731	1	2858											
ABHD5	51099	broad.mit.edu	37	chr3	43759228	43759228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaaaggccaatgctccagcGaattggtaaaatgcaccctg	9	10	0	0			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr3:43759228G>A	ENST00000458276.2	+	6	962	c.839G>A	c.(838-840)cGa>cAa	p.R280Q	ABHD5_ENST00000463153.1_3'UTR	NM_016006.4	NP_057090.2	Q8WTS1	ABHD5_HUMAN	abhydrolase domain containing 5	280					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|negative regulation of sequestering of triglyceride (GO:0010891)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|lysophosphatidic acid acyltransferase activity (GO:0042171)			kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		ATGCTCCAGCGAATTGGTAAA	0.458																																						ENST00000458276.2																			0				kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14						c.(838-840)cGa>cAa		abhydrolase domain containing 5							133	121	125					3																	43759228		2203	4300	6503	SO:0001583	missense	51099				cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity	g.chr3:43759228G>A	AF007132	CCDS2711.1	3p21.33	2012-05-16			ENSG00000011198	ENSG00000011198		"Abhydrolase domain containing"	21396	protein-coding gene	gene with protein product		604780				11590543, 18606822	Standard	NM_016006		Approved	CGI-58, NCIE2	uc003cmx.3	Q8WTS1	OTTHUMG00000133039	ENST00000458276.2:c.839G>A	3.37:g.43759228G>A	ENSP00000390849:p.Arg280Gln					ABHD5_ENST00000463153.1_3'UTR	p.R280Q	NM_016006.4	NP_057090.2	Q8WTS1	ABHD5_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)	6	962	+		Renal(3;0.0134)	280					B2R9K0|Q9Y369	Missense_Mutation	SNP	ENST00000458276.2	37	c.839G>A	CCDS2711.1	.	.	.	.	.	.	.	.	.	.	G	35	5.414256	0.96092	.	.	ENSG00000011198	ENST00000458276	D	0.84873	-1.91	5.68	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.93504	0.7927	M	0.91561	3.22	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93939	0.7221	10	0.52906	T	0.07	-0.0314	15.0316	0.71710	0.0696:0.0:0.9304:0.0	.	280	Q8WTS1	ABHD5_HUMAN	Q	280	ENSP00000390849:R280Q	ENSP00000390849:R280Q	R	+	2	0	ABHD5	43734232	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	8.013000	0.88655	2.681000	0.91329	0.591000	0.81541	CGA		0.458	ABHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256644.2	NM_016006		3	50	0	0	0	1	0	3	50					A	43759228	G	A	43759228	3	1	136	1	0	0	0	0	1	0	0	0	85	1058	37	1	861	1	ABHD5	3	43759228	Missense_Mutation	SNP	G	TCGA-DJ-A3V5-01A-11D-A22Z-08		43759228	154263202	2	2859											
AFM	173	broad.mit.edu	37	chr4	74364929	74364929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctttcactacttgctgtaCgctaagtgaagagtttgcct	9	9	1	2			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr4:74364929C>T	ENST00000226355.3	+	11	1481	c.1388C>T	c.(1387-1389)aCg>aTg	p.T463M		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	463	Albumin 3. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)	p.T463M(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACTTGCTGTACGCTAAGTGAA	0.413																																						ENST00000226355.3																			1	Substitution - Missense(1)	p.T463M(1)	large_intestine(1)	breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(1387-1389)aCg>aTg		afamin							159	139	146					4																	74364929		2203	4300	6503	SO:0001583	missense	173				vitamin transport		vitamin E binding	g.chr4:74364929C>T	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.1388C>T	4.37:g.74364929C>T	ENSP00000226355:p.Thr463Met						p.T463M	NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		11	1481	+	Breast(15;0.00102)		463			Albumin 3.		A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	ENST00000226355.3	37	c.1388C>T	CCDS3557.1	.	.	.	.	.	.	.	.	.	.	C	9.800	1.180275	0.21787	.	.	ENSG00000079557	ENST00000226355	T	0.73258	-0.73	5.55	3.8	0.43715	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.576081	0.17417	N	0.174987	T	0.67183	0.2866	L	0.55103	1.725	0.09310	N	1	D	0.54047	0.964	P	0.47786	0.557	T	0.59637	-0.7417	10	0.48119	T	0.1	.	6.3034	0.21125	0.1841:0.725:0.0:0.0909	.	463	P43652	AFAM_HUMAN	M	463	ENSP00000226355:T463M	ENSP00000226355:T463M	T	+	2	0	AFM	74583793	0.000000	0.05858	0.273000	0.24645	0.014000	0.08584	-0.369000	0.07533	1.329000	0.45376	0.655000	0.94253	ACG		0.413	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2			9	14	0	0	0	1	0	9	14					T	74364929	C	T	74364929	3	4	136	1	0	0	0	0	1	0	0	0	361	536	19	1	1430	1	AFM	4	74364929	Missense_Mutation	SNP	C	TCGA-DJ-A3V5-01A-11D-A22Z-08		74364929	116789347	3	2860											
FRAS1	80144	broad.mit.edu	37	chr4	79301030	79301030	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttgtgagcactcccaccaAtggtcagctagtgctctcaa	9	12	2	1			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr4:79301030A>G	ENST00000325942.6	+	27	3883	c.3443A>G	c.(3442-3444)aAt>aGt	p.N1148S	FRAS1_ENST00000264895.6_Missense_Mutation_p.N1148S	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1148					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACTCCCACCAATGGTCAGCTA	0.468																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(3442-3444)aAt>aGt		Fraser syndrome 1							91	90	90					4																	79301030		1902	4111	6013	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79301030A>G	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.3443A>G	4.37:g.79301030A>G	ENSP00000326330:p.Asn1148Ser					FRAS1_ENST00000325942.6_Missense_Mutation_p.N1148S	p.N1148S	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			27	3883	+			1147					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.3443A>G	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	A	18.33	3.600992	0.66332	.	.	ENSG00000138759	ENST00000325942;ENST00000264895	D;D	0.88124	-2.34;-2.34	5.53	4.35	0.52113	.	0.000000	0.85682	D	0.000000	D	0.89217	0.6652	M	0.73598	2.24	0.80722	D	1	D;D	0.60160	0.987;0.986	P;P	0.55785	0.751;0.784	D	0.86065	0.1534	10	0.25106	T	0.35	.	8.4471	0.32849	0.7993:0.1313:0.0694:0.0	.	1148;1148	E9PHH6;A2RRR8	.;.	S	1148	ENSP00000326330:N1148S;ENSP00000264895:N1148S	ENSP00000264895:N1148S	N	+	2	0	FRAS1	79520054	1.000000	0.71417	0.994000	0.49952	0.747000	0.42532	4.557000	0.60782	0.936000	0.37367	0.482000	0.46254	AAT		0.468	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			10	16	0	0	0	1	0	10	16					G	79301030	A	G	79301030	3	3	136	1	0	0	0	0	1	0	0	0	6042	101	4	3	3549	3	FRAS1	4	79301030	Missense_Mutation	SNP	A	TCGA-DJ-A3V5-01A-11D-A22Z-08	4936101	79301030	111853246	4	2861											
CAMK4	814	broad.mit.edu	37	chr5	110819825	110819825	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctagccgagacccttctccAatccaagatggcaacgagga	10	13	1	2			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr5:110819825A>C	ENST00000282356.4	+	11	1481	c.1083A>C	c.(1081-1083)ccA>ccC	p.P361P	CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Silent_p.P361P	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	361					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ACCCTTCTCCAATCCAAGATG	0.587																																						ENST00000282356.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30						c.(1081-1083)ccA>ccC		calcium/calmodulin-dependent protein kinase IV							62	63	63					5																	110819825		2202	4300	6502	SO:0001819	synonymous_variant	814				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:110819825A>C	D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"brain Ca++-calmodulin-dependent protein kinase type IV", "calcium/calmodulin-dependent protein kinase type IV catalytic chain", "CAM kinase IV", "CAM kinase- GR"	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.1083A>C	5.37:g.110819825A>C						CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Silent_p.P361P	p.P361P	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)	11	1481	+		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)	361					D3DSZ7	Silent	SNP	ENST00000282356.4	37	c.1083A>C	CCDS4103.1																																																																																				0.587	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744		6	33	0	0	0	1	0	6	33					C	110819825	A	C	110819825	2	2	136	1	0	0	0	0	0	0	0	1	2605	117	5	5		5	CAMK4	5	110819825	Silent	SNP	A	TCGA-DJ-A3V5-01A-11D-A22Z-08		110819825	70095435	5	2862											
PPARGC1B	133522	broad.mit.edu	37	chr5	149210402	149210402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaggaagggaccgcctggCgccaggcaggcctcagatct	15	12	2	2			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr5:149210402C>T	ENST00000309241.5	+	4	570	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C	PPARGC1B_ENST00000403750.1_Intron|PPARGC1B_ENST00000360453.4_Intron|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.R180C	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	180					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GACCGCCTGGCGCCAGGCAGG	0.562																																						ENST00000309241.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(538-540)Cgc>Tgc		peroxisome proliferator-activated receptor gamma, coactivator 1 beta							96	100	99					5																	149210402		2203	4300	6503	SO:0001583	missense	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149210402C>T	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"RNA binding motif (RRM) containing"	30022	protein-coding gene	gene with protein product		608886	"peroxisome proliferative activated receptor, gamma, coactivator 1, beta"			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.538C>T	5.37:g.149210402C>T	ENSP00000312649:p.Arg180Cys					PPARGC1B_ENST00000403750.1_Intron|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.R180C|PPARGC1B_ENST00000360453.4_Intron	p.R180C	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		4	570	+			180					A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	ENST00000309241.5	37	c.538C>T	CCDS4298.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104091	0.76983	.	.	ENSG00000155846	ENST00000394320;ENST00000309241	T;T	0.09817	2.94;2.95	5.29	1.1	0.20463	.	0.775840	0.10757	N	0.637605	T	0.22003	0.0530	L	0.55481	1.735	0.80722	D	1	B;B;B;D	0.89917	0.083;0.139;0.05;1.0	B;B;B;D	0.63597	0.037;0.037;0.017;0.916	T	0.08513	-1.0718	10	0.72032	D	0.01	-5.0096	6.4763	0.22037	0.254:0.6:0.0:0.1461	.	159;159;180;180	Q86YN6-2;Q86YN6-4;Q86YN6;Q86YN6-3	.;.;PRGC2_HUMAN;.	C	180	ENSP00000377855:R180C;ENSP00000312649:R180C	ENSP00000312649:R180C	R	+	1	0	PPARGC1B	149190595	0.999000	0.42202	0.999000	0.59377	0.976000	0.68499	0.535000	0.23114	0.271000	0.22005	0.561000	0.74099	CGC		0.562	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		4	59	0	0	0	1	0	4	59					T	149210402	C	T	149210402	3	4	136	1	0	0	0	0	1	0	0	0	12301	768	27	1	559	1	PPARGC1B	5	149210402	Missense_Mutation	SNP	C	TCGA-DJ-A3V5-01A-11D-A22Z-08	38390577	149210402	31704858	6	2863											
OR2B3	442184	broad.mit.edu	37	chr6	29054783	29054783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcaaccaatatttaccaaCatatgagggactgtagttgt	8	7	0	1			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr6:29054783C>T	ENST00000377173.2	-	1	307	c.243G>A	c.(241-243)atG>atA	p.M81I		NM_001005226.2	NP_001005226.1	O76000	OR2B3_HUMAN	olfactory receptor, family 2, subfamily B, member 3	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						TATTTACCAACATATGAGGGA	0.448																																						ENST00000377173.2																			0				breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						c.(241-243)atG>atA		olfactory receptor, family 2, subfamily B, member 3							133	129	131					6																	29054783		2203	4300	6503	SO:0001583	missense	442184							g.chr6:29054783C>T		CCDS34358.1	6p22.2-p21.31	2012-08-09	2008-10-22	2008-10-22	ENSG00000204703	ENSG00000204703		"GPCR / Class A : Olfactory receptors"	8238	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily B, member 3 pseudogene"	OR2B3P			Standard	NM_001005226		Approved	OR6-4	uc003nlx.3	O76000	OTTHUMG00000031226	ENST00000377173.2:c.243G>A	6.37:g.29054783C>T	ENSP00000366378:p.Met81Ile						p.M81I	NM_001005226.2	NP_001005226.1					1	307	-								B0UYQ1|Q5ST41|Q96R13	Missense_Mutation	SNP	ENST00000377173.2	37	c.243G>A	CCDS34358.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.516687	0.27123	.	.	ENSG00000204703	ENST00000377173	T	0.05513	3.43	3.9	3.9	0.45041	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	U	0.000161	T	0.03871	0.0109	M	0.81942	2.565	0.22552	N	0.998995	B	0.06786	0.001	B	0.06405	0.002	T	0.21621	-1.0240	10	0.72032	D	0.01	.	7.2564	0.26179	0.0:0.7252:0.1746:0.1002	.	81	O76000	OR2B3_HUMAN	I	81	ENSP00000366378:M81I	ENSP00000366378:M81I	M	-	3	0	OR2B3	29162762	0.000000	0.05858	0.950000	0.38849	0.860000	0.49131	-0.630000	0.05502	1.696000	0.51158	0.579000	0.79373	ATG		0.448	OR2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076469.2			16	30	0	0	0	1	0	16	30					T	29054783	C	T	29054783	3	4	136	1	0	0	0	0	1	0	0	0	10990	478	17	2	702	2	OR2B3	6	29054783	Missense_Mutation	SNP	C	TCGA-DJ-A3V5-01A-11D-A22Z-08		29054783	142060284	7	2864											
SPACA1	81833	broad.mit.edu	37	chr6	88773843	88773843	+	Frame_Shift_Del	DEL	C	C	-													agatgagaagatcaagcctaCcagccactgatgcagcccta							TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr6:88773843delC	ENST00000237201.1	+	6	754	c.637delC	c.(637-639)ccafs	p.P213fs	SPACA1_ENST00000462690.1_Intron	NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	213					acrosome assembly (GO:0001675)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		ATCAAGCCTACCAGCCACTGA	0.333																																						ENST00000237201.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20						c.(637-639)cafs		sperm acrosome associated 1							140	136	137					6																	88773843		2203	4300	6503	SO:0001589	frameshift_variant	81833					integral to membrane		g.chr6:88773843delC	AF203447	CCDS5014.1	6q15	2012-09-20			ENSG00000118434	ENSG00000118434			14967	protein-coding gene	gene with protein product		612739					Standard	NM_030960		Approved	SAMP32	uc003pmn.3	Q9HBV2	OTTHUMG00000015183	ENST00000237201.1:c.637delC	6.37:g.88773843delC	ENSP00000237201:p.Pro213fs					SPACA1_ENST00000462690.1_Intron	p.P213fs	NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.11)	6	754	+		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	213						Frame_Shift_Del	DEL	ENST00000237201.1	37	c.637delC	CCDS5014.1																																																																																				0.333	SPACA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041459.1			28	43						28	43	---	---	---	---	-	88773843	C	-	88773843	7	5	136	1	0	1	0	1	0	0	0	0	14972	507	18	0	659	0	SPACA1	6	88773843	Frame_Shift_Del	DEL	C	TCGA-DJ-A3V5-01A-11D-A22Z-08	59719060	88773843	82341224	8	2865											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		13	28	0	0	0	1	0	13	28					T	140453136	A	T	140453136	3	4	136	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3V5-01A-11D-A22Z-08		140453136	18685527	9	2866											
RSU1	6251	broad.mit.edu	37	chr10	16824045	16824045	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacttacttgttagcttgtTatggctgaggaccagttgtg	11	7	1	1			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr10:16824045T>G	ENST00000377921.3	-	2	449	c.148A>C	c.(148-150)Aac>Cac	p.N50H	RSU1_ENST00000464074.2_Intron|RSU1_ENST00000345264.5_Missense_Mutation_p.N50H|RSU1_ENST00000602389.1_5'UTR			Q15404	RSU1_HUMAN	Ras suppressor protein 1	50					cell junction assembly (GO:0034329)|positive regulation of neural precursor cell proliferation (GO:2000179)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(1;7.54e-08)		GTTAGCTTGTTATGGCTGAGG	0.368																																						ENST00000377921.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(148-150)Aac>Cac		Ras suppressor protein 1							180	169	173					10																	16824045		2203	4300	6503	SO:0001583	missense	6251				cell junction assembly|signal transduction	cytosol	protein binding	g.chr10:16824045T>G	AK055596	CCDS7112.1, CCDS31157.1	10p13	2012-09-20			ENSG00000148484	ENSG00000148484			10464	protein-coding gene	gene with protein product		179555				8288261	Standard	NM_152724		Approved	RSP-1, FLJ31034	uc001iol.3	Q15404	OTTHUMG00000017740	ENST00000377921.3:c.148A>C	10.37:g.16824045T>G	ENSP00000367154:p.Asn50His					RSU1_ENST00000602389.1_5'UTR|RSU1_ENST00000345264.5_Missense_Mutation_p.N50H|RSU1_ENST00000464074.2_Intron	p.N50H			Q15404	RSU1_HUMAN		GBM - Glioblastoma multiforme(1;7.54e-08)	2	449	-			50					A8KA46|D3DRU3|Q6FI17	Missense_Mutation	SNP	ENST00000377921.3	37	c.148A>C	CCDS7112.1	.	.	.	.	.	.	.	.	.	.	T	19.12	3.766192	0.69878	.	.	ENSG00000148484	ENST00000345264;ENST00000377921	T;T	0.61274	0.12;0.12	4.97	4.97	0.65823	.	0.107851	0.64402	D	0.000006	D	0.84261	0.5433	H	0.98682	4.3	0.58432	D	0.999999	D;D	0.89917	0.997;1.0	D;D	0.80764	0.994;0.99	D	0.89635	0.3858	10	0.87932	D	0	-8.5557	12.6646	0.56835	0.0:0.0:0.0:1.0	.	50;50	B0YJ73;Q15404	.;RSU1_HUMAN	H	50	ENSP00000339521:N50H;ENSP00000367154:N50H	ENSP00000339521:N50H	N	-	1	0	RSU1	16864051	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.749000	0.68704	2.083000	0.62718	0.533000	0.62120	AAC		0.368	RSU1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047006.1	NM_012425, NM_152724		9	12	0	0	0	1	0	9	12					G	16824045	T	G	16824045	3	3	136	1	0	0	0	0	1	0	0	0	13716	1754	61	5	713	5	RSU1	10	16824045	Missense_Mutation	SNP	T	TCGA-DJ-A3V5-01A-11D-A22Z-08		16824045	118710702	10	2867											
LRRC4C	57689	broad.mit.edu	37	chr11	40136666	40136666	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtacgccccatgtgtcatgaCtgttccatttggagtaatcc	9	11	1	1			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr11:40136666C>A	ENST00000278198.2	-	2	3140	c.1177G>T	c.(1177-1179)Gtc>Ttc	p.V393F	LRRC4C_ENST00000527150.1_Missense_Mutation_p.V393F|LRRC4C_ENST00000528697.1_Missense_Mutation_p.V393F|LRRC4C_ENST00000530763.1_Missense_Mutation_p.V393F			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	393	Ig-like C2-type.				regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TGTGTCATGACTGTTCCATTT	0.478																																						ENST00000278198.2																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(1177-1179)Gtc>Ttc		leucine rich repeat containing 4C							172	152	159					11																	40136666		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136666C>A	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"Immunoglobulin superfamily / I-set domain containing"	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1177G>T	11.37:g.40136666C>A	ENSP00000278198:p.Val393Phe					LRRC4C_ENST00000528697.1_Missense_Mutation_p.V393F|LRRC4C_ENST00000530763.1_Missense_Mutation_p.V393F|LRRC4C_ENST00000527150.1_Missense_Mutation_p.V393F	p.V393F			Q9HCJ2	LRC4C_HUMAN			2	3140	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	393			Ig-like C2-type.		A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.1177G>T	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.463963	0.26335	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	5.87	4.96	0.65561	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.121292	0.56097	D	0.000031	T	0.62744	0.2453	L	0.53780	1.695	0.45005	D	0.998023	B	0.32245	0.361	B	0.38655	0.278	T	0.59397	-0.7462	10	0.32370	T	0.25	.	9.8286	0.40928	0.0:0.8501:0.0:0.1499	.	393	Q9HCJ2	LRC4C_HUMAN	F	393	ENSP00000278198:V393F;ENSP00000436976:V393F;ENSP00000437132:V393F;ENSP00000434761:V393F	ENSP00000278198:V393F	V	-	1	0	LRRC4C	40093242	0.987000	0.35691	1.000000	0.80357	0.938000	0.57974	2.432000	0.44784	2.798000	0.96311	0.650000	0.86243	GTC		0.478	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		40	74	1	0	8.01111e-26	1	8.33155e-26	40	74					A	40136666	C	A	40136666	3	1	136	1	0	0	0	0	1	0	0	0	9008	565	20	4	749	4	LRRC4C	11	40136666	Missense_Mutation	SNP	C	TCGA-DJ-A3V5-01A-11D-A22Z-08		40136666	94869850	11	2868											
DGKA	1606	broad.mit.edu	37	chr12	56346638	56346638	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggagaccccatggggatAtctatgggatcaaccaggcc	12	12	2	1			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr12:56346638A>G	ENST00000331886.5	+	21	2318	c.1864A>G	c.(1864-1866)Atc>Gtc	p.I622V	DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Missense_Mutation_p.I622V|DGKA_ENST00000394147.1_Missense_Mutation_p.I622V	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	622					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	CCATGGGGATATCTATGGGAT	0.537																																						ENST00000331886.5																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25						c.(1864-1866)Atc>Gtc		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)						146	134	138					12																	56346638		2203	4300	6503	SO:0001583	missense	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56346638A>G	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"EF-hand domain containing"	2849	protein-coding gene	gene with protein product		125855	"diacylglycerol kinase, alpha (80kD)"	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.1864A>G	12.37:g.56346638A>G	ENSP00000328405:p.Ile622Val					DGKA_ENST00000551156.1_Missense_Mutation_p.I622V|DGKA_ENST00000394147.1_Missense_Mutation_p.I622V|DGKA_ENST00000549079.2_3'UTR	p.I622V	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN			21	2318	+			622					O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Missense_Mutation	SNP	ENST00000331886.5	37	c.1864A>G	CCDS8896.1	.	.	.	.	.	.	.	.	.	.	A	1.583	-0.531071	0.04112	.	.	ENSG00000065357	ENST00000331886;ENST00000555218;ENST00000394147;ENST00000551156	D;D;D;D	0.86230	-1.86;-2.09;-1.86;-1.86	4.14	2.95	0.34219	Diacylglycerol kinase, accessory domain (2);	0.903677	0.09705	N	0.766424	T	0.76399	0.3982	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.002;0.003	T	0.61272	-0.7096	10	0.30078	T	0.28	.	5.0599	0.14551	0.5359:0.3667:0.0975:0.0	.	541;622	G3V4E1;P23743	.;DGKA_HUMAN	V	622;541;622;622	ENSP00000328405:I622V;ENSP00000451743:I541V;ENSP00000377703:I622V;ENSP00000450359:I622V	ENSP00000328405:I622V	I	+	1	0	DGKA	54632905	0.000000	0.05858	0.161000	0.22692	0.388000	0.30384	0.083000	0.14871	0.714000	0.32081	0.260000	0.18958	ATC		0.537	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			27	81	0	0	0	1	0	27	81					G	56346638	A	G	56346638	3	3	136	1	0	0	0	0	1	0	0	0	4465	449	16	3	1942	3	DGKA	12	56346638	Missense_Mutation	SNP	A	TCGA-DJ-A3V5-01A-11D-A22Z-08		56346638	77505257	12	2869											
TIMELESS	8914	broad.mit.edu	37	chr12	56814908	56814908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaatctttcagggactccGctccatttggctaaaattca	6	10	3	0	rs374201861		TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr12:56814908G>A	ENST00000553532.1	-	24	3029	c.2879C>T	c.(2878-2880)gCg>gTg	p.A960V	TIMELESS_ENST00000229201.4_Missense_Mutation_p.A959V|TIMELESS_ENST00000554616.1_Missense_Mutation_p.A457V					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CAGGGACTCCGCTCCATTTGG	0.512																																						ENST00000229201.4																			0				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						c.(2875-2877)gCg>gTg		timeless circadian clock		G	VAL/ALA	0,4406		0,0,2203	64	66	65		2879	1.3	0.0	12		65	1,8599	1.2+/-3.3	0,1,4299	no	missense	TIMELESS	NM_003920.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	960/1209	56814908	1,13005	2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56814908G>A	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2879C>T	12.37:g.56814908G>A	ENSP00000450607:p.Ala960Val					TIMELESS_ENST00000554616.1_Missense_Mutation_p.A457V|TIMELESS_ENST00000553532.1_Missense_Mutation_p.A960V	p.A959V	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN			24	3030	-			960						Missense_Mutation	SNP	ENST00000553532.1	37	c.2876C>T	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.533002	0.27387	0.0	1.16E-4	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.64991	2.66;2.66;-0.13	5.02	1.27	0.21489	Timeless C-terminal (1);	0.696585	0.14503	N	0.315623	T	0.35828	0.0945	N	0.08118	0	0.09310	N	1	B	0.25441	0.126	B	0.19391	0.025	T	0.17319	-1.0373	10	0.41790	T	0.15	-5.7743	5.8548	0.18714	0.0:0.0902:0.3436:0.5663	.	960	Q9UNS1	TIM_HUMAN	V	959;960;457	ENSP00000229201:A959V;ENSP00000450607:A960V;ENSP00000450848:A457V	ENSP00000229201:A960V	A	-	2	0	TIMELESS	55101175	0.000000	0.05858	0.001000	0.08648	0.041000	0.13682	0.387000	0.20718	0.105000	0.17753	-0.397000	0.06425	GCG		0.512	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		12	30	0	0	0	1	0	12	30					A	56814908	G	A	56814908	3	1	136	1	0	0	0	0	1	0	0	0	15901	1087	38	1	771	1	TIMELESS	12	56814908	Missense_Mutation	SNP	G	TCGA-DJ-A3V5-01A-11D-A22Z-08	468270	56814908	77036987	13	2870											
CYP27B1	1594	broad.mit.edu	37	chr12	58159094	58159094	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actcaccttccagtccgaacTtgtaaaattcccccgccacg	5	17	1	0			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr12:58159094T>C	ENST00000228606.4	-	3	784	c.575A>G	c.(574-576)aAg>aGg	p.K192R	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	192					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	CAGTCCGAACTTGTAAAATTC	0.692											OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000228606.4																			0				central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15						c.(574-576)aAg>aGg		cytochrome P450, family 27, subfamily B, polypeptide 1	Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)						13	16	15					12																	58159094		2170	4258	6428	SO:0001583	missense	1594				bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	g.chr12:58159094T>C	AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"Cytochrome P450s"	2606	protein-coding gene	gene with protein product	"VDDR I", "1alpha(OH)ase", "25-Hydroxyvitamin D3 1alpha-hydroxylase"	609506	"cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.575A>G	12.37:g.58159094T>C	ENSP00000228606:p.Lys192Arg		OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1028	RP11-571M6.13_ENST00000546609.1_RNA	p.K192R	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		3	784	-	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		192					B2RC61|Q548T3	Missense_Mutation	SNP	ENST00000228606.4	37	c.575A>G	CCDS8954.1	.	.	.	.	.	.	.	.	.	.	T	13.22	2.172847	0.38413	.	.	ENSG00000111012	ENST00000228606	T	0.68624	-0.34	5.06	5.06	0.68205	.	0.109629	0.64402	D	0.000017	T	0.48554	0.1506	N	0.16368	0.405	0.34219	D	0.675158	B	0.31752	0.338	B	0.39904	0.313	T	0.54091	-0.8345	10	0.02654	T	1	.	9.333	0.38034	0.1602:0.0:0.0:0.8398	.	192	O15528	CP27B_HUMAN	R	192	ENSP00000228606:K192R	ENSP00000228606:K192R	K	-	2	0	CYP27B1	56445361	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	2.331000	0.43894	2.121000	0.65114	0.459000	0.35465	AAG		0.692	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1	NM_000785		6	14	0	0	0	1	0	6	14					C	58159094	T	C	58159094	3	2	136	1	0	0	0	0	1	0	0	0	4159	1609	56	3	979	3	CYP27B1	12	58159094	Missense_Mutation	SNP	T	TCGA-DJ-A3V5-01A-11D-A22Z-08	1344186	58159094	75692801	14	2871											
KERA	11081	broad.mit.edu	37	chr12	91445123	91445123	+	Nonstop_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tagatttggtgagaatgtgtTtaaataatgacagcctgcag	11	4	0	3			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr12:91445123T>A	ENST00000266719.3	-	3	1306	c.1059A>T	c.(1057-1059)taA>taT	p.*353Y		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	0					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GAGAATGTGTTTAAATAATGA	0.383																																						ENST00000266719.3																			0				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						c.(1057-1059)taA>taT		keratocan							79	74	76					12																	91445123		2203	4299	6502	SO:0001578	stop_lost	11081				response to stimulus|visual perception	proteinaceous extracellular matrix		g.chr12:91445123T>A	AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	6309	protein-coding gene	gene with protein product	"keratocan proteoglycan"	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.1059A>T	12.37:g.91445123T>A							p.*353Y	NM_007035.3	NP_008966.1	O60938	KERA_HUMAN			3	1306	-			0						Nonstop_Mutation	SNP	ENST00000266719.3	37	c.1059A>T	CCDS9037.1	.	.	.	.	.	.	.	.	.	.	T	11.65	1.701807	0.30232	.	.	ENSG00000139330	ENST00000266719	.	.	.	5.69	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5136	0.33233	0.0:0.1503:0.0:0.8497	.	.	.	.	Y	353	.	.	X	-	3	2	KERA	89969254	1.000000	0.71417	0.975000	0.42487	0.505000	0.33919	4.674000	0.61612	0.985000	0.38656	0.533000	0.62120	TAA		0.383	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	NM_007035		3	17	0	0	0	1	0	3	17					A	91445123	T	A	91445123	4	1	136	1	0	0	0	0	0	0	0	0	8143	1848	64	5	3	5	KERA	12	91445123	Nonstop_Mutation	SNP	T	TCGA-DJ-A3V5-01A-11D-A22Z-08	33286029	91445123	42406772	15	2872											
ADSSL1	122622	broad.mit.edu	37	chr14	105196336	105196336	+	Frame_Shift_Del	DEL	T	T	-													cccagctcacagcacagcccTcccctggctgcctccaagga							TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr14:105196336delT	ENST00000332972.5	+	1	266	c.107delT	c.(106-108)ctcfs	p.L36fs	ADSSL1_ENST00000330877.2_Intron	NM_199165.1	NP_954634.1			adenylosuccinate synthase like 1											central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		AGCACAGCCCTCCCCTGGCTG	0.667																																						ENST00000332972.5																			0				central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11						c.(106-108)ccfs		adenylosuccinate synthase like 1	L-Aspartic Acid(DB00128)						39	36	37					14																	105196336		2190	4292	6482	SO:0001589	frameshift_variant	122622				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	g.chr14:105196336delT	AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000332972.5:c.107delT	14.37:g.105196336delT	ENSP00000333019:p.Leu36fs					ADSSL1_ENST00000330877.2_Intron	p.L36fs	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	1	266	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	0						Frame_Shift_Del	DEL	ENST00000332972.5	37	c.107delT	CCDS9991.1																																																																																				0.667	ADSSL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410531.1			2	4						2	4	---	---	---	---	-	105196336	T	-	105196336	7	5	136	1	0	1	0	1	0	0	0	0	348	1551	54	0	305	0	ADSSL1	14	105196336	Frame_Shift_Del	DEL	T	TCGA-DJ-A3V5-01A-11D-A22Z-08		105196336	2153204	16	2873											
FANCI	55215	broad.mit.edu	37	chr15	89856163	89856163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taagagcctgaactatacggGagagaaaaaggagaaacctg	12	6	0	4			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr15:89856163G>A	ENST00000310775.7	+	35	3766	c.3680G>A	c.(3679-3681)gGa>gAa	p.G1227E	FANCI_ENST00000566615.1_3'UTR|FANCI_ENST00000300027.8_Missense_Mutation_p.G1167E	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	1227					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)					AACTATACGGGAGAGAAAAAG	0.418								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.(3679-3681)gGa>gAa	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group I							76	75	75					15																	89856163		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.chr15:89856163G>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.3680G>A	15.37:g.89856163G>A	ENSP00000310842:p.Gly1227Glu					FANCI_ENST00000566615.1_3'UTR|FANCI_ENST00000300027.8_Missense_Mutation_p.G1167E	p.G1227E	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN			35	3766	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		1227					A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	ENST00000310775.7	37	c.3680G>A	CCDS45346.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.426471	0.25726	.	.	ENSG00000140525	ENST00000300027;ENST00000310775	D;D	0.82081	-1.57;-1.57	4.77	3.85	0.44370	.	0.524497	0.20928	N	0.083157	T	0.65048	0.2654	N	0.17082	0.46	0.80722	D	1	B;B;B	0.24721	0.012;0.11;0.007	B;B;B	0.17433	0.009;0.018;0.006	T	0.56032	-0.8046	10	0.08837	T	0.75	-4.6227	8.4473	0.32849	0.1039:0.0:0.8961:0.0	.	1227;1166;1167	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	E	1167;1227	ENSP00000300027:G1167E;ENSP00000310842:G1227E	ENSP00000300027:G1167E	G	+	2	0	FANCI	87657167	1.000000	0.71417	0.998000	0.56505	0.376000	0.30014	1.914000	0.39966	1.230000	0.43646	0.650000	0.86243	GGA		0.418	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193		3	27	0	0	0	1	0	3	27					A	89856163	G	A	89856163	3	1	136	1	0	0	0	0	1	0	0	0	5669	1174	41	2	3814	2	FANCI	15	89856163	Missense_Mutation	SNP	G	TCGA-DJ-A3V5-01A-11D-A22Z-08		89856163	12675229	17	2874											
KIAA1609	57707	broad.mit.edu	37	chr16	84531595	84531595	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cattcgggctgtttttatctGatgacagagcatcaaacaat	8	8	2	3	rs144320129		TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr16:84531595G>A	ENST00000343629.6	-	2	280	c.98C>T	c.(97-99)tCa>tTa	p.S33L	TLDC1_ENST00000561807.1_5'UTR|RP11-517C16.4_ENST00000568771.1_RNA|TLDC1_ENST00000535580.1_5'UTR	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	33						lysosomal membrane (GO:0005765)											GTTTTTATCTGATGACAGAGC	0.483													G|||	1	0.000199681	0	0	5008	,	,		18504	0		0.001	False		,,,				2504	0					ENST00000343629.6																			0											c.(97-99)tCa>tTa		TBC/LysM-associated domain containing 1							185	181	183					16																	84531595		2199	4300	6499	SO:0001583	missense	57707							g.chr16:84531595G>A	AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"TLD domain containing 1"		"KIAA1609"	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.98C>T	16.37:g.84531595G>A	ENSP00000343635:p.Ser33Leu					TLDC1_ENST00000561807.1_5'UTR|TLDC1_ENST00000535580.1_5'UTR	p.S33L	NM_020947.3	NP_065998.3					2	280	-								Q8IZ64|Q9HCG3|Q9NTE8	Missense_Mutation	SNP	ENST00000343629.6	37	c.98C>T	CCDS32498.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.28	2.190902	0.38707	.	.	ENSG00000140950	ENST00000343629	T	0.08984	3.03	5.13	3.14	0.36123	.	1.078620	0.07298	N	0.873669	T	0.10337	0.0253	M	0.63428	1.95	0.20074	N	0.999938	P	0.38922	0.651	B	0.30251	0.113	T	0.27872	-1.0061	10	0.59425	D	0.04	-2.224	9.6812	0.40072	0.176:0.0:0.824:0.0	.	33	Q6P9B6	K1609_HUMAN	L	33	ENSP00000343635:S33L	ENSP00000343635:S33L	S	-	2	0	KIAA1609	83089096	0.001000	0.12720	0.002000	0.10522	0.076000	0.17211	0.798000	0.27014	1.299000	0.44798	0.585000	0.79938	TCA		0.483	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947		24	104	0	0	0	1	0	24	104					A	84531595	G	A	84531595	3	1	136	1	0	0	0	0	1	0	0	0	8247	1294	45	2	1300	2	KIAA1609	16	84531595	Missense_Mutation	SNP	G	TCGA-DJ-A3V5-01A-11D-A22Z-08		84531595	5823158	18	2875											
TIMM22	29928	broad.mit.edu	37	chr17	900397	900397	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgtcatggcggcggccgcCcccaatgccggaggctcggc	15	16	1	0			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr17:900397C>A	ENST00000327158.4	+	1	41	c.15C>A	c.(13-15)gcC>gcA	p.A5A		NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22 homolog (yeast)	5					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial inner membrane (GO:0045039)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	protein channel activity (GO:0015266)			breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CGGCGGCCGCCCCCAATGCCG	0.672																																						ENST00000327158.3																			0				breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(13-15)gcC>gcA		translocase of inner mitochondrial membrane 22 homolog (yeast)							9	13	11					17																	900397		2072	4152	6224	SO:0001819	synonymous_variant	29928				transmembrane transport	integral to membrane|mitochondrial inner membrane	protein transporter activity	g.chr17:900397C>A	AF155330	CCDS32521.1	17p13	2008-02-05	2003-07-22			ENSG00000177370			17317	protein-coding gene	gene with protein product		607251	"testis-expressed sequence 4"	TEX4			Standard	NM_013337		Approved		uc002fsc.3	Q9Y584		ENST00000327158.4:c.15C>A	17.37:g.900397C>A							p.A5A	NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	1	41	+			5					Q9NWI8	Silent	SNP	ENST00000327158.4	37	c.15C>A	CCDS32521.1																																																																																				0.672	TIMM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450107.2	NM_013337		9	10	1	0	0.000274275	1	0.000274275	9	10					A	900397	C	A	900397	2	1	136	1	0	0	0	0	0	0	0	1	15907	610	22	4		4	TIMM22	17	900397	Silent	SNP	C	TCGA-DJ-A3V5-01A-11D-A22Z-08		900397	80294813	19	2876											
TXNDC2	84203	broad.mit.edu	37	chr18	9887434	9887434	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acatccccaagtccccagaaGaagccatccagcccaaggag	8	16	0	2	rs542784712		TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr18:9887434G>A	ENST00000306084.6	+	2	1157	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	TXNDC2_ENST00000357775.5_Missense_Mutation_p.E253K|TXNDC2_ENST00000536353.2_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	320	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCCCAGAAGAAGCCATCCA	0.592																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(958-960)Gaa>Aaa		thioredoxin domain containing 2 (spermatozoa)							118	116	116					18																	9887434		2203	4300	6503	SO:0001583	missense	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9887434G>A	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 1"					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.958G>A	18.37:g.9887434G>A	ENSP00000304908:p.Glu320Lys					TXNDC2_ENST00000357775.4_Missense_Mutation_p.E253K|TXNDC2_ENST00000536353.2_3'UTR	p.E320K	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	1157	+			320			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.958G>A	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	-	9.190	1.025691	0.19512	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084	T;T	0.16457	2.34;2.34	4.51	-2.85	0.05734	.	1.375710	0.04920	N	0.454875	T	0.09992	0.0245	N	0.22421	0.69	0.09310	N	1	B	0.20887	0.049	B	0.26517	0.07	T	0.32824	-0.9892	9	.	.	.	0.0054	2.2126	0.03952	0.4817:0.1449:0.2484:0.125	.	320	Q86VQ3	TXND2_HUMAN	K	118;253;320	ENSP00000350419:E253K;ENSP00000304908:E320K	.	E	+	1	0	TXNDC2	9877434	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.958000	0.03857	-0.705000	0.05035	0.644000	0.83932	GAA		0.592	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			19	50	0	0	0	1	0	19	50					A	9887434	G	A	9887434	3	1	136	1	0	0	0	0	1	0	0	0	16794	943	33	2	964	2	TXNDC2	18	9887434	Missense_Mutation	SNP	G	TCGA-DJ-A3V5-01A-11D-A22Z-08		9887434	68189814	20	2877											
RPGR	6103	broad.mit.edu	37	chrX	38169958	38169958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggtgttctgtgattgcCcaggagctgattgggaagac	16	7	1	3			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chrX:38169958C>T	ENST00000339363.3	-	7	855	c.688G>A	c.(688-690)Ggc>Agc	p.G230S	RPGR_ENST00000378505.2_Missense_Mutation_p.G230S|SNORA31_ENST00000516241.1_RNA|RPGR_ENST00000318842.7_Missense_Mutation_p.G230S|RPGR_ENST00000309513.3_Missense_Mutation_p.G230S|RPGR_ENST00000342811.3_Missense_Mutation_p.G230S|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000338898.3_Missense_Mutation_p.G230S			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	230					cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						CTGTGATTGCCCAGGAGCTGA	0.478																																						ENST00000378505.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						c.(688-690)Ggc>Agc		retinitis pigmentosa GTPase regulator							112	83	93					X																	38169958		2202	4300	6502	SO:0001583	missense	6103				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	g.chrX:38169958C>T	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"retinitis pigmentosa 15", "cone dystrophy 1 (X-linked)"	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.688G>A	X.37:g.38169958C>T	ENSP00000343671:p.Gly230Ser					RPGR_ENST00000342811.3_Missense_Mutation_p.G230S|RPGR_ENST00000338898.3_Missense_Mutation_p.G230S|RPGR_ENST00000309513.3_Missense_Mutation_p.G230S|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000318842.7_Missense_Mutation_p.G230S|RPGR_ENST00000339363.3_Missense_Mutation_p.G230S	p.G230S	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN			7	864	-			230					B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	ENST00000339363.3	37	c.688G>A		.	.	.	.	.	.	.	.	.	.	N	1.724	-0.495986	0.04291	.	.	ENSG00000156313	ENST00000339363;ENST00000309513;ENST00000338898;ENST00000318842;ENST00000342811;ENST00000378505	D;D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8;-1.8	5.54	-5.25	0.02781	.	2.140760	0.02402	N	0.080812	T	0.61048	0.2316	N	0.05592	-0.015	0.09310	N	1	B;B	0.25904	0.137;0.01	B;B	0.24701	0.055;0.039	T	0.57780	-0.7752	10	0.09590	T	0.72	.	4.6007	0.12352	0.234:0.3324:0.0:0.4336	.	230;230	E9PE28;Q92834-2	.;.	S	230	ENSP00000343671:G230S;ENSP00000308783:G230S;ENSP00000340208:G230S;ENSP00000322219:G230S;ENSP00000339531:G230S;ENSP00000367766:G230S	ENSP00000308783:G230S	G	-	1	0	RPGR	38054902	0.002000	0.14202	0.008000	0.14137	0.370000	0.29829	-0.609000	0.05635	-1.560000	0.01686	-0.405000	0.06341	GGC		0.478	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		9	15	0	0	0	1	0	9	15					T	38169958	C	T	38169958	3	4	136	1	0	0	0	0	1	0	0	0	13548	623	22	2	3365	2	RPGR	23	38169958	Missense_Mutation	SNP	C	TCGA-DJ-A3V5-01A-11D-A22Z-08		38169958	117100602	21	2878											
ZXDB	158586	broad.mit.edu	37	chrX	57619097	57619097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctcctgcccagcagcccGggtgtctgatcgccccgcaa	11	19	1	1			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chrX:57619097G>A	ENST00000374888.1	+	1	829	c.616G>A	c.(616-618)Ggg>Agg	p.G206R		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	206					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.G206R(2)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CCAGCAGCCCGGGTGTCTGAT	0.711																																						ENST00000374888.1																			2	Substitution - Missense(2)	p.G206R(2)	lung(1)|prostate(1)	NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						c.(616-618)Ggg>Agg		zinc finger, X-linked, duplicated B							12	14	13					X																	57619097		2186	4257	6443	SO:0001583	missense	158586				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chrX:57619097G>A	L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"Zinc fingers, C2H2-type"	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.616G>A	X.37:g.57619097G>A	ENSP00000364023:p.Gly206Arg						p.G206R	NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN			1	829	+			206					A8K151|Q9UBB3	Missense_Mutation	SNP	ENST00000374888.1	37	c.616G>A	CCDS35313.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.654782	0.00108	.	.	ENSG00000198455	ENST00000374888	T	0.11063	2.81	2.65	1.78	0.24846	.	0.160870	0.29602	N	0.011697	T	0.04452	0.0122	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41787	-0.9489	10	0.15952	T	0.53	.	4.3042	0.10938	0.3435:0.0:0.6565:0.0	.	206	P98169	ZXDB_HUMAN	R	206	ENSP00000364023:G206R	ENSP00000364023:G206R	G	+	1	0	ZXDB	57635822	0.000000	0.05858	0.002000	0.10522	0.045000	0.14185	-0.287000	0.08388	0.520000	0.28426	0.556000	0.70494	GGG		0.711	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	NM_007157		3	14	0	0	0	1	0	3	14					A	57619097	G	A	57619097	3	1	136	1	0	0	0	0	1	0	0	0	18248	1116	39	1	618	1	ZXDB	23	57619097	Missense_Mutation	SNP	G	TCGA-DJ-A3V5-01A-11D-A22Z-08	19449139	57619097	97651463	22	2879											
ZNF644	84146	broad.mit.edu	37	chr1	91403245	91403245	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagactgattctttttcccaCtgggcagttctggttttgtt	10	8	2	2			TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr1:91403245C>A	ENST00000370440.1	-	4	3702	c.3485G>T	c.(3484-3486)aGt>aTt	p.S1162I	ZNF644_ENST00000337393.5_Missense_Mutation_p.S1162I|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	1162					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(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CTTTTTCCCACTGGGCAGTTC	0.373																																						ENST00000370440.1																			0				breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(3484-3486)aGt>aTt		zinc finger protein 644							110	114	113					1																	91403245		2203	4300	6503	SO:0001583	missense	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91403245C>A	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.3485G>T	1.37:g.91403245C>A	ENSP00000359469:p.Ser1162Ile					ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.S1162I|ZNF644_ENST00000467231.1_Intron	p.S1162I			Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	4	3702	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	1162					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	37	c.3485G>T	CCDS731.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.524803	0.27299	.	.	ENSG00000122482	ENST00000370440;ENST00000337393	T;T	0.00594	6.33;6.33	6.06	5.1	0.69264	.	0.270374	0.43416	D	0.000571	T	0.00178	0.0005	N	0.08118	0	0.36568	D	0.872845	B	0.21381	0.055	B	0.13407	0.009	T	0.57980	-0.7717	10	0.59425	D	0.04	-8.5743	6.0782	0.19927	0.0:0.6955:0.1906:0.114	.	1162	Q9H582	ZN644_HUMAN	I	1162	ENSP00000359469:S1162I;ENSP00000337008:S1162I	ENSP00000337008:S1162I	S	-	2	0	ZNF644	91175833	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.785000	0.38684	2.882000	0.98803	0.655000	0.94253	AGT		0.373	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		12	149	1	0	0.000978159	1	0.000999423	12	149					A	91403245	C	A	91403245	3	1	137	1	0	0	0	0	1	0	0	0	18057	565	20	4	510	4	ZNF644	1	91403245	Missense_Mutation	SNP	C	TCGA-DJ-A3V6-01A-11D-A22Z-08		91403245	157847376	1	2880											
C2orf65	130951	broad.mit.edu	37	chr2	74803681	74803681	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatccattctcaaggagccGtcagctgtgccagcgagtag	11	12	3	0			TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr2:74803681G>A	ENST00000290536.5	-	6	950	c.834C>T	c.(832-834)gaC>gaT	p.D278D	M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000536235.1_Silent_p.D278D|M1AP_ENST00000358434.2_De_novo_Start_OutOfFrame|M1AP_ENST00000409585.1_Silent_p.D278D	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein	278					cell differentiation (GO:0030154)|chromatin assembly (GO:0031497)|female gamete generation (GO:0007292)|male meiosis chromosome separation (GO:0051308)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											TCAAGGAGCCGTCAGCTGTGC	0.483																																						ENST00000358434.2																			0													meiosis 1 associated protein							104	96	99					2																	74803681		2203	4300	6503	SO:0001819	synonymous_variant	130951							g.chr2:74803681G>A		CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374			25183	protein-coding gene	gene with protein product	"meiosis 1 arresting protein", "spermatogenesis associated 37"		"chromosome 2 open reading frame 65"	C2orf65		16881047, 23269666	Standard	NM_138804		Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000290536.5:c.834C>T	2.37:g.74803681G>A						M1AP_ENST00000290536.5_Silent_p.D278D|M1AP_ENST00000409585.1_Silent_p.D278D|M1AP_ENST00000536235.1_Silent_p.D278D|M1AP_ENST00000464686.1_5'UTR								0	950	-								B7Z6E7|E9PGG8|Q6ZP30|Q96L07	Translation_Start_Site	SNP	ENST00000290536.5	37		CCDS33229.1																																																																																				0.483	M1AP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328569.1	NM_138804		8	36	0	0	0	1	0	8	36					A	74803681	G	A	74803681	2	1	137	1	0	0	0	0	0	0	0	1	2184	1136	40	1		1	C2orf65	2	74803681	Silent	SNP	G	TCGA-DJ-A3V6-01A-11D-A22Z-08		74803681	168395692	2	2881											
ESYT3	83850	broad.mit.edu	37	chr3	138191501	138191501	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaaggttctgtgagcccatCggggagaagaagagtccagc	14	8	1	4	rs368985977		TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr3:138191501C>T	ENST00000389567.4	+	18	2223	c.2037C>T	c.(2035-2037)atC>atT	p.I679I		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	679					lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GTGAGCCCATCGGGGAGAAGA	0.597																																						ENST00000389567.4																			0				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						c.(2035-2037)atC>atT		extended synaptotagmin-like protein 3		C		4,4228		0,4,2112	104	122	116		2037	-0.2	0.0	3		116	0,8456		0,0,4228	no	coding-synonymous	ESYT3	NM_031913.3		0,4,6340	TT,TC,CC		0.0,0.0945,0.0315		679/887	138191501	4,12684	2116	4228	6344	SO:0001819	synonymous_variant	83850					integral to membrane|plasma membrane		g.chr3:138191501C>T	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"Synaptotagmins"	24295	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member C"	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.2037C>T	3.37:g.138191501C>T							p.I679I	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN			18	2223	+			679					A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Silent	SNP	ENST00000389567.4	37	c.2037C>T	CCDS3101.2																																																																																				0.597	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913		30	85	0	0	0	1	0	30	85					T	138191501	C	T	138191501	2	4	137	1	0	0	0	0	0	0	0	1	5266	874	31	1		1	ESYT3	3	138191501	Silent	SNP	C	TCGA-DJ-A3V6-01A-11D-A22Z-08		138191501	59830929	3	2882											
PLSCR4	57088	broad.mit.edu	37	chr3	145914466	145914466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ataggttgagcatggcccacGaactctcatcacattttctt	7	11	3	1			TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr3:145914466G>A	ENST00000354952.2	-	7	979	c.739C>T	c.(739-741)Cgt>Tgt	p.R247C	PLSCR4_ENST00000493382.1_Missense_Mutation_p.R247C|PLSCR4_ENST00000383083.2_Missense_Mutation_p.R157C|PLSCR4_ENST00000433593.2_Missense_Mutation_p.R142C|PLSCR4_ENST00000446574.2_Missense_Mutation_p.R247C	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	247					cellular response to lipopolysaccharide (GO:0071222)|phospholipid scrambling (GO:0017121)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|enzyme binding (GO:0019899)|phospholipid scramblase activity (GO:0017128)			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						CATGGCCCACGAACTCTCATC	0.423																																						ENST00000354952.2																			0				kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						c.(739-741)Cgt>Tgt		phospholipid scramblase 4							159	140	147					3																	145914466		2203	4300	6503	SO:0001583	missense	57088				blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	g.chr3:145914466G>A	AF199023	CCDS3133.1, CCDS54651.1	3q24	2008-07-18			ENSG00000114698	ENSG00000114698			16497	protein-coding gene	gene with protein product		607612				10930526	Standard	NM_020353		Approved		uc003evt.4	Q9NRQ2	OTTHUMG00000159415	ENST00000354952.2:c.739C>T	3.37:g.145914466G>A	ENSP00000347038:p.Arg247Cys					PLSCR4_ENST00000493382.1_Missense_Mutation_p.R247C|PLSCR4_ENST00000433593.2_Missense_Mutation_p.R142C|PLSCR4_ENST00000383083.2_Missense_Mutation_p.R157C|PLSCR4_ENST00000446574.2_Missense_Mutation_p.R247C	p.R247C	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN			7	979	-			247					A8K2E9|Q2TTR3|Q658L3|Q6ZR73|Q7Z505	Missense_Mutation	SNP	ENST00000354952.2	37	c.739C>T	CCDS3133.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.483829	0.26598	.	.	ENSG00000114698	ENST00000354952;ENST00000383083;ENST00000433593;ENST00000446574;ENST00000493382;ENST00000460350	T;T;T;T;T;T	0.31510	1.49;1.88;1.88;1.49;1.49;1.88	5.17	3.28	0.37604	.	0.839546	0.10362	N	0.683824	T	0.38665	0.1049	L	0.47190	1.495	0.09310	N	1	D;B	0.71674	0.998;0.139	P;B	0.54815	0.761;0.028	T	0.12708	-1.0537	10	0.44086	T	0.13	.	8.8085	0.34952	0.0:0.1322:0.4671:0.4007	.	157;247	E9PHR9;Q9NRQ2	.;PLS4_HUMAN	C	247;157;142;247;247;247	ENSP00000347038:R247C;ENSP00000372561:R157C;ENSP00000415605:R142C;ENSP00000399315:R247C;ENSP00000419040:R247C;ENSP00000417896:R247C	ENSP00000347038:R247C	R	-	1	0	PLSCR4	147397156	0.000000	0.05858	0.072000	0.20136	0.960000	0.62799	-0.174000	0.09839	1.378000	0.46305	0.655000	0.94253	CGT		0.423	PLSCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355172.1	NM_020353		43	75	0	0	0	1	0	43	75					A	145914466	G	A	145914466	3	1	137	1	0	0	0	0	1	0	0	0	12112	1058	37	1	262	1	PLSCR4	3	145914466	Missense_Mutation	SNP	G	TCGA-DJ-A3V6-01A-11D-A22Z-08	7722965	145914466	52107964	4	2883											
DSPP	1834	broad.mit.edu	37	chr4	88534400	88534400	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccatagagaaagcaaacgCgtagaaaatagaatcaccaa	7	8	1	3			TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr4:88534400C>T	ENST00000282478.7	+	3	1095	c.1062C>T	c.(1060-1062)cgC>cgT	p.R354R	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.R354R			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	354					biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		AAAGCAAACGCGTAGAAAATA	0.418																																						ENST00000399271.1																			0				breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(1060-1062)cgC>cgT		dentin sialophosphoprotein							38	37	37					4																	88534400		1881	4087	5968	SO:0001819	synonymous_variant	1834				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	g.chr4:88534400C>T	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.1062C>T	4.37:g.88534400C>T						RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Silent_p.R354R	p.R354R	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000508)	4	1182	+		Hepatocellular(203;0.114)|all_hematologic(202;0.236)	354					A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	c.1062C>T	CCDS43248.1																																																																																				0.418	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		28	39	0	0	0	1	0	28	39					T	88534400	C	T	88534400	2	4	137	1	0	0	0	0	0	0	0	1	4782	755	27	1		1	DSPP	4	88534400	Silent	SNP	C	TCGA-DJ-A3V6-01A-11D-A22Z-08		88534400	102619876	5	2884											
PCDH1	5097	broad.mit.edu	37	chr5	141244422	141244422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccaccacctgcaccttgaGggagttagtgctggagagtg	14	10	0	2			TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr5:141244422G>A	ENST00000394536.3	-	3	1613	c.1474C>T	c.(1474-1476)Ctc>Ttc	p.L492F	PCDH1_ENST00000536585.1_Missense_Mutation_p.L470F|PCDH1_ENST00000287008.3_Missense_Mutation_p.L492F|PCDH1_ENST00000456271.1_Missense_Mutation_p.L480F|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000511044.1_5'UTR	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	492	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TGCACCTTGAGGGAGTTAGTG	0.542																																					Ovarian(132;1609 1739 4190 14731 45037)	ENST00000287008.3																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51						c.(1474-1476)Ctc>Ttc		protocadherin 1							152	140	144					5																	141244422		2203	4300	6503	SO:0001583	missense	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141244422G>A	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"Cadherins / Protocadherins : Non-clustered"	8655	protein-coding gene	gene with protein product		603626	"protocadherin 1 (cadherin-like 1)"			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.1474C>T	5.37:g.141244422G>A	ENSP00000378043:p.Leu492Phe					PCDH1_ENST00000536585.1_Missense_Mutation_p.L470F|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000456271.1_Missense_Mutation_p.L480F|PCDH1_ENST00000394536.3_Missense_Mutation_p.L492F	p.L492F	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	3	1621	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	492			Cadherin 4.		Q8IUP2	Missense_Mutation	SNP	ENST00000394536.3	37	c.1474C>T	CCDS43375.1	.	.	.	.	.	.	.	.	.	.	g	16.06	3.015958	0.54468	.	.	ENSG00000156453	ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.75	5.75	0.90469	Cadherin (4);Cadherin-like (1);	0.000000	0.45867	D	0.000325	T	0.62768	0.2455	L	0.58428	1.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.63501	-0.6623	10	0.87932	D	0	.	17.4554	0.87605	0.0:0.0:1.0:0.0	.	492;492	Q08174;Q08174-2	PCDH1_HUMAN;.	F	492;492;480;503;470	ENSP00000287008:L492F;ENSP00000378043:L492F;ENSP00000403497:L480F;ENSP00000350122:L503F;ENSP00000438825:L470F	ENSP00000287008:L492F	L	-	1	0	PCDH1	141224606	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.802000	0.47916	2.736000	0.93811	0.550000	0.68814	CTC		0.542	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		19	126	0	0	0	1	0	19	126					A	141244422	G	A	141244422	3	1	137	1	0	0	0	0	1	0	0	0	11506	1000	35	2	2335	2	PCDH1	5	141244422	Missense_Mutation	SNP	G	TCGA-DJ-A3V6-01A-11D-A22Z-08		141244422	39670838	6	2885											
DDC	1644	broad.mit.edu	37	chr7	50530960	50530960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcgcagcacgtcggccGccagctctttgatgtgttcc	11	15	1	1			TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr7:50530960G>A	ENST00000444124.2	-	14	1612	c.1412C>T	c.(1411-1413)gCg>gTg	p.A471V	DDC_ENST00000357936.5_Missense_Mutation_p.A471V|DDC_ENST00000426377.1_Missense_Mutation_p.A393V|DDC_ENST00000431062.1_Missense_Mutation_p.A378V	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	471					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	CACGTCGGCCGCCAGCTCTTT	0.597																																						ENST00000444124.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40						c.(1411-1413)gCg>gTg		dopa decarboxylase (aromatic L-amino acid decarboxylase)	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)						65	55	58					7																	50530960		2203	4300	6503	SO:0001583	missense	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50530960G>A		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.1412C>T	7.37:g.50530960G>A	ENSP00000403644:p.Ala471Val					DDC_ENST00000426377.1_Missense_Mutation_p.A393V|DDC_ENST00000431062.1_Missense_Mutation_p.A378V|DDC_ENST00000357936.5_Missense_Mutation_p.A471V	p.A471V	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN			14	1612	-	Glioma(55;0.08)|all_neural(89;0.245)		471					C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	ENST00000444124.2	37	c.1412C>T	CCDS5511.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.91|19.91	3.914187|3.914187	0.72983|0.72983	.|.	.|.	ENSG00000132437|ENSG00000132437	ENST00000357936;ENST00000431062;ENST00000426377;ENST00000444124|ENST00000430300	T;T;T;T|.	0.37915|.	1.17;1.17;1.17;1.17|.	5.44|5.44	5.44|5.44	0.79542|0.79542	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.099792|.	0.64402|.	D|.	0.000002|.	D|D	0.84768|0.84768	0.5545|0.5545	M|M	0.89287|0.89287	3.02|3.02	0.80722|0.80722	D|D	1|1	P;P|.	0.51537|.	0.946;0.946|.	B;B|.	0.34180|.	0.177;0.177|.	D|D	0.86934|0.86934	0.2075|0.2075	10|5	0.87932|.	D|.	0|.	-27.2516|-27.2516	19.2638|19.2638	0.93979|0.93979	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	471;471|.	Q53Y41;P20711|.	.;DDC_HUMAN|.	V|W	471;378;393;471|352	ENSP00000350616:A471V;ENSP00000399184:A378V;ENSP00000395069:A393V;ENSP00000403644:A471V|.	ENSP00000350616:A471V|.	A|R	-|-	2|1	0|2	DDC|DDC	50498454|50498454	1.000000|1.000000	0.71417|0.71417	0.803000|0.803000	0.32268|0.32268	0.033000|0.033000	0.12548|0.12548	7.478000|7.478000	0.81082|0.81082	2.540000|2.540000	0.85666|0.85666	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.597	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			4	21	0	0	0	1	0	4	21					A	50530960	G	A	50530960	3	1	137	1	0	0	0	0	1	0	0	0	4325	1087	38	1	34	1	DDC	7	50530960	Missense_Mutation	SNP	G	TCGA-DJ-A3V6-01A-11D-A22Z-08		50530960	108607703	7	2886											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		28	53	0	0	0	1	0	28	53					T	140453136	A	T	140453136	3	4	137	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3V6-01A-11D-A22Z-08	89922176	140453136	18685527	8	2887											
PLEC	5339	broad.mit.edu	37	chr8	145007232	145007232	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgcctgccttcagccgtaggTtgtactcggtgcggatggct	14	12	1	0			TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr8:145007232T>A	ENST00000322810.4	-	14	2046	c.1877A>T	c.(1876-1878)aAc>aTc	p.N626I	PLEC_ENST00000345136.3_Missense_Mutation_p.N489I|PLEC_ENST00000354958.2_Missense_Mutation_p.N467I|PLEC_ENST00000356346.3_Missense_Mutation_p.N475I|PLEC_ENST00000398774.2_Missense_Mutation_p.N457I|PLEC_ENST00000436759.2_Missense_Mutation_p.N516I|PLEC_ENST00000527096.1_Missense_Mutation_p.N512I|PLEC_ENST00000357649.2_Missense_Mutation_p.N493I|PLEC_ENST00000354589.3_Missense_Mutation_p.N489I	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	626	Globular 1.				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						CAGCCGTAGGTTGTACTCGGT	0.672																																						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.(1876-1878)aAc>aTc		plectin							13	18	17					8																	145007232		2018	4163	6181	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.chr8:145007232T>A	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.1877A>T	8.37:g.145007232T>A	ENSP00000323856:p.Asn626Ile					PLEC_ENST00000527096.1_Missense_Mutation_p.N512I|PLEC_ENST00000356346.3_Missense_Mutation_p.N475I|PLEC_ENST00000357649.2_Missense_Mutation_p.N493I|PLEC_ENST00000436759.2_Missense_Mutation_p.N516I|PLEC_ENST00000398774.2_Missense_Mutation_p.N457I|PLEC_ENST00000354958.2_Missense_Mutation_p.N467I|PLEC_ENST00000354589.3_Missense_Mutation_p.N489I|PLEC_ENST00000345136.3_Missense_Mutation_p.N489I	p.N626I	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			14	2046	-			626			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.1877A>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	T	14.74	2.625914	0.46840	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000528025	T;T;T;T;T;T;T;T;T;D	0.90069	-1.1;-1.1;-1.13;-1.13;-1.12;-1.1;-1.1;-1.1;-1.1;-2.61	5.21	4.03	0.46877	.	0.073224	0.50627	U	0.000111	D	0.92502	0.7619	M	0.69823	2.125	0.58432	D	0.999995	D;D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.998;0.999;0.999;0.999;0.999	D;D;D;P;D;D;D;D	0.64687	0.928;0.928;0.928;0.849;0.928;0.928;0.928;0.928	D	0.91865	0.5502	10	0.59425	D	0.04	.	11.246	0.48998	0.0:0.0:0.1536:0.8464	.	516;475;467;626;457;489;493;489	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	I	489;493;489;457;626;467;475;516;512;533	ENSP00000344848:N489I;ENSP00000350277:N493I;ENSP00000346602:N489I;ENSP00000381756:N457I;ENSP00000323856:N626I;ENSP00000347044:N467I;ENSP00000348702:N475I;ENSP00000388180:N516I;ENSP00000434583:N512I;ENSP00000437303:N533I	ENSP00000323856:N626I	N	-	2	0	PLEC	145079220	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.658000	0.68003	0.798000	0.33994	0.523000	0.50628	AAC		0.672	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		6	5	0	0	0	1	0	6	5					A	145007232	T	A	145007232	3	1	137	1	0	0	0	0	1	0	0	0	12052	1725	60	5	12253	5	PLEC	8	145007232	Missense_Mutation	SNP	T	TCGA-DJ-A3V6-01A-11D-A22Z-08		145007232	1356790	9	2888											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123210305	123210305	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctccaagatctggctctGcagctgcgtcaccacctcct	8	17	3	1			TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr9:123210305G>A	ENST00000349780.4	-	22	3072	c.2893C>T	c.(2893-2895)Cag>Tag	p.Q965*	CDK5RAP2_ENST00000360190.4_Nonsense_Mutation_p.Q965*|CDK5RAP2_ENST00000359309.3_Nonsense_Mutation_p.Q965*|CDK5RAP2_ENST00000360822.3_Nonsense_Mutation_p.Q933*	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	965	Interaction with MAPRE1.				brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						ATCTGGCTCTGCAGCTGCGTC	0.498																																						ENST00000349780.4																			0				breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						c.(2893-2895)Cag>Tag		CDK5 regulatory subunit associated protein 2							101	102	102					9																	123210305		2203	4300	6503	SO:0001587	stop_gained	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123210305G>A	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"centrosomin"	608201	"microcephaly, primary autosomal recessive 3"	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.2893C>T	9.37:g.123210305G>A	ENSP00000343818:p.Gln965*					CDK5RAP2_ENST00000360822.3_Nonsense_Mutation_p.Q933*|CDK5RAP2_ENST00000360190.4_Nonsense_Mutation_p.Q965*|CDK5RAP2_ENST00000359309.3_Nonsense_Mutation_p.Q965*	p.Q965*	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN			22	3072	-			965			Interaction with MAPRE1.		Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Nonsense_Mutation	SNP	ENST00000349780.4	37	c.2893C>T	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732799	0.89482	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000425647;ENST00000345313	.	.	.	4.77	4.77	0.60923	.	0.308515	0.23455	N	0.047994	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	9.1226	0.36797	0.1022:0.0:0.8978:0.0	.	.	.	.	X	933;965;965;965;359;16;737	.	ENSP00000341695:Q737X	Q	-	1	0	CDK5RAP2	122250126	0.999000	0.42202	0.990000	0.47175	0.449000	0.32228	5.054000	0.64275	2.184000	0.69523	0.467000	0.42956	CAG		0.498	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		9	109	0	0	0	1	0	9	109					A	123210305	G	A	123210305	4	1	137	1	0	0	0	0	0	1	0	0	3146	1328	46	2	2856	2	CDK5RAP2	9	123210305	Nonsense_Mutation	SNP	G	TCGA-DJ-A3V6-01A-11D-A22Z-08		123210305	18003126	10	2889											
ADD3	120	broad.mit.edu	37	chr10	111860594	111860594	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggaaacgagttactcagatCctgcaaagtcctgtgagttg	11	8	1	2	rs376781474		TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr10:111860594C>T	ENST00000356080.4	+	2	550	c.183C>T	c.(181-183)atC>atT	p.I61I	ADD3_ENST00000277900.8_Silent_p.I61I|ADD3_ENST00000497125.1_3'UTR|ADD3_ENST00000360162.3_Silent_p.I61I	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	61						cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		TTACTCAGATCCTGCAAAGTC	0.398																																						ENST00000277900.8																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29						c.(181-183)atC>atT		adducin 3 (gamma)		C	,,	1,4405	2.1+/-5.4	0,1,2202	63	60	61		183,183,183	1.5	1.0	10		61	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ADD3	NM_001121.2,NM_016824.3,NM_019903.3	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	61/675,61/707,61/675	111860594	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	120					cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton	g.chr10:111860594C>T	U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.183C>T	10.37:g.111860594C>T						ADD3_ENST00000356080.4_Silent_p.I61I|ADD3_ENST00000360162.3_Silent_p.I61I|ADD3_ENST00000497125.1_3'UTR	p.I61I	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)	2	548	+		Breast(234;0.052)|Lung NSC(174;0.223)	61					D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Silent	SNP	ENST00000356080.4	37	c.183C>T	CCDS7561.1																																																																																				0.398	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050289.1	NM_019903		9	51	0	0	0	1	0	9	51					T	111860594	C	T	111860594	2	4	137	1	0	0	0	0	0	0	0	1	306	845	30	2		2	ADD3	10	111860594	Silent	SNP	C	TCGA-DJ-A3V6-01A-11D-A22Z-08		111860594	23674153	11	2890											
OR51T1	401665	broad.mit.edu	37	chr11	4903279	4903279	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aacagtatgatctttcttgtCatcattactaagcggagact	7	8	4	2			TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr11:4903279C>T	ENST00000322049.1	+	1	150	c.150C>T	c.(148-150)gtC>gtT	p.V50V	MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000380378.1_Silent_p.V77V|MMP26_ENST00000477339.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTTTCTTGTCATCATTACTA	0.483																																						ENST00000380378.1																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(229-231)gtC>gtT		olfactory receptor, family 51, subfamily T, member 1							198	173	182					11																	4903279		2201	4298	6499	SO:0001819	synonymous_variant	401665				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4903279C>T	BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"GPCR / Class A : Olfactory receptors"	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.150C>T	11.37:g.4903279C>T						MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Silent_p.V50V|MMP26_ENST00000380390.1_Intron	p.V77V	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	231	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	50					Q6IFH9	Silent	SNP	ENST00000322049.1	37	c.231C>T																																																																																					0.483	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		34	81	0	0	0	1	0	34	81					T	4903279	C	T	4903279	2	4	137	1	0	0	0	0	0	0	0	1	11106	813	29	2		2	OR51T1	11	4903279	Silent	SNP	C	TCGA-DJ-A3V6-01A-11D-A22Z-08		4903279	130103237	12	2891											
PRCP	5547	broad.mit.edu	37	chr11	82611440	82611440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcaggagggctcggcggCccatggctcaggctggagac	19	11	1	1			TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr11:82611440C>T	ENST00000313010.3	-	1	199	c.5G>A	c.(4-6)gGc>gAc	p.G2D	C11orf82_ENST00000525361.1_5'Flank|C11orf82_ENST00000533655.1_5'Flank|PRCP_ENST00000393399.2_Missense_Mutation_p.G2D|C11orf82_ENST00000524921.1_5'Flank|PRCP_ENST00000535099.1_Intron|C11orf82_ENST00000525388.1_5'Flank|C11orf82_ENST00000430323.2_5'Flank|C11orf82_ENST00000528759.1_5'Flank	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	2					angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						GGCTCGGCGGCCCATGGCTCA	0.687																																						ENST00000313010.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						c.(4-6)gGc>gAc		prolylcarboxypeptidase (angiotensinase C)							31	31	31					11																	82611440		2203	4300	6503	SO:0001583	missense	5547				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity	g.chr11:82611440C>T	BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.5G>A	11.37:g.82611440C>T	ENSP00000317362:p.Gly2Asp					PRCP_ENST00000535099.1_Intron|PRCP_ENST00000393399.2_Missense_Mutation_p.G2D	p.G2D	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN			1	199	-			2					A8MU24|B2R7B7|B3KRK5|B5BU34	Missense_Mutation	SNP	ENST00000313010.3	37	c.5G>A	CCDS8262.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787397	0.70337	.	.	ENSG00000137509	ENST00000313010;ENST00000393399	T;T	0.23147	2.49;1.92	4.02	2.15	0.27550	.	4.781430	0.00424	N	0.000079	T	0.14313	0.0346	N	0.08118	0	0.80722	D	1	B;B	0.18610	0.029;0.029	B;B	0.13407	0.009;0.009	T	0.25152	-1.0140	9	.	.	.	-0.4618	6.1191	0.20144	0.0:0.771:0.0:0.229	.	2;2	P42785;A8MU24	PCP_HUMAN;.	D	2	ENSP00000317362:G2D;ENSP00000377055:G2D	.	G	-	2	0	PRCP	82289088	0.098000	0.21812	0.846000	0.33378	0.953000	0.61014	0.000000	0.12993	0.669000	0.31146	0.557000	0.71058	GGC		0.687	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391792.1	NM_005040		9	30	0	0	0	1	0	9	30					T	82611440	C	T	82611440	3	4	137	1	0	0	0	0	1	0	0	0	12449	739	26	2	1588	2	PRCP	11	82611440	Missense_Mutation	SNP	C	TCGA-DJ-A3V6-01A-11D-A22Z-08	77708161	82611440	52395076	13	2892											
KCNA1	3736	broad.mit.edu	37	chr12	5021754	5021754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctaacaattgccctgcccGtacctgtcattgtgtccaat	7	13	1	0	rs104894355		TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr12:5021754G>A	ENST00000382545.3	+	2	2317	c.1210G>A	c.(1210-1212)Gta>Ata	p.V404I	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	404			V -> I (in EA1; yields current amplitudes that were not different from wild-type; coexpression with wild-type partially corrected the alterations in activation parameters). {ECO:0000269|PubMed:11026449, ECO:0000269|PubMed:9600245}.		potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	TGCCCTGCCCGTACCTGTCAT	0.522																																						ENST00000382545.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63	GRCh37	CM981109	KCNA1	M	rs104894355	c.(1210-1212)Gta>Ata		potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						317	308	311					12																	5021754		2203	4300	6503	SO:0001583	missense	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5021754G>A	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.1210G>A	12.37:g.5021754G>A	ENSP00000371985:p.Val404Ile					KCNA1_ENST00000543874.2_Intron	p.V404I	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN			2	2317	+			404		V -> I (in EA1; yields current amplitudes that were not different from wild-type; coexpression with wild-type partially corrected the alterations in activation parameters).			A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	c.1210G>A	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460654	0.84317	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.98044	-4.68	4.9	4.9	0.64082	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98254	0.9422	M	0.64404	1.975	0.80722	A	1	D	0.89917	1.0	D	0.81914	0.995	D	0.97967	1.0341	9	0.38643	T	0.18	.	17.6066	0.88040	0.0:0.0:1.0:0.0	.	404	Q09470	KCNA1_HUMAN	I	404	ENSP00000371985:V404I	ENSP00000228858:V404I	V	+	1	0	KCNA1	4892015	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.691000	0.91804	0.655000	0.94253	GTA		0.522	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		144	246	0	0	0	1	0	144	246					A	5021754	G	A	5021754	3	1	137	1	0	0	0	0	1	0	0	0	8001	1145	40	1	1212	1	KCNA1	12	5021754	Missense_Mutation	SNP	G	TCGA-DJ-A3V6-01A-11D-A22Z-08		5021754	128830141	14	2893											
EP400	57634	broad.mit.edu	37	chr12	132547135	132547136	+	In_Frame_Ins	INS	-	-	CAG													agcagcagcagcagcagcagINScaacagcagcagcagcaaca							TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr12:132547135_132547136insCAG	ENST00000333577.4	+	48	8440_8441	c.8331_8332insCAG	c.(8332-8334)caa>CAGcaa	p.2778_2778Q>QQ	EP400_ENST00000389562.2_In_Frame_Ins_p.2741_2741Q>QQ|EP400_ENST00000389561.2_In_Frame_Ins_p.2742_2742Q>QQ|EP400_ENST00000332482.4_In_Frame_Ins_p.2705_2705Q>QQ|EP400_ENST00000330386.6_In_Frame_Ins_p.2661_2661Q>QQ			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	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)			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)		agcagcagcagcaacagcagca	0.589																																						ENST00000333577.4																			0				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.(8329-8334)caaaca>caCAGaaca		E1A binding protein p400																																				SO:0001652	inframe_insertion	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.chr12:132547135_132547136insCAG	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.8329_8331dupCAG	12.37:g.132547133_132547135dupCAG	ENSP00000333602:p.Gln2784dup					EP400_ENST00000389562.2_In_Frame_Ins_p.2740_2740Q>HR|EP400_ENST00000330386.6_In_Frame_Ins_p.2660_2660Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2704_2704Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2741_2741Q>HR	p.2777_2777Q>HR			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8440_8441	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2777			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	In_Frame_Ins	INS	ENST00000333577.4	37	c.8331_8332insCAG																																																																																					0.589	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		11	55						11	55	---	---	---	---	CAG	132547136	-	CAG	132547135	7	5	137	1	0	1	1	0	0	0	0	0	5149	962	34	0	8402	0	EP400	12	132547135	In_Frame_Ins	INS	-	TCGA-DJ-A3V6-01A-11D-A22Z-08	127525381	132547135	1304760	15	2894											
LRP10	26020	broad.mit.edu	37	chr14	23345043	23345043	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagttgcttggagcaatggtCgtggcttcaatgccacctac	11	11	1	0	rs377217522		TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr14:23345043C>T	ENST00000359591.4	+	5	1577	c.886C>T	c.(886-888)Cgt>Tgt	p.R296C	LRP10_ENST00000546834.1_Missense_Mutation_p.R296C	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	296	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		GAGCAATGGTCGTGGCTTCAA	0.582													C|||	1	0.000199681	8e-04	0	5008	,	,		23232	0		0	False		,,,				2504	0					ENST00000359591.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32						c.(886-888)Cgt>Tgt		low density lipoprotein receptor-related protein 10		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	98	82	87		886	4.3	1.0	14		87	0,8600		0,0,4300	no	missense	LRP10	NM_014045.3	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	296/714	23345043	1,13005	2203	4300	6503	SO:0001583	missense	26020				endocytosis	coated pit|integral to membrane		g.chr14:23345043C>T	AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"Low density lipoprotein receptors"	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.886C>T	14.37:g.23345043C>T	ENSP00000352601:p.Arg296Cys					LRP10_ENST00000546834.1_Missense_Mutation_p.R296C	p.R296C	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN		GBM - Glioblastoma multiforme(265;0.00549)	5	1577	+	all_cancers(95;4.69e-05)		296			CUB 2.		A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Missense_Mutation	SNP	ENST00000359591.4	37	c.886C>T	CCDS9578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.97|16.97	3.268076|3.268076	0.59540|0.59540	2.27E-4|2.27E-4	0.0|0.0	ENSG00000197324|ENSG00000197324	ENST00000359591;ENST00000546834|ENST00000551466	T;T|.	0.20069|.	2.1;2.1|.	5.24|5.24	4.35|4.35	0.52113|0.52113	CUB (5);|.	0.172208|.	0.49916|.	D|.	0.000137|.	T|T	0.73806|0.73806	0.3634|0.3634	M|M	0.76170|0.76170	2.325|2.325	0.58432|0.58432	D|D	0.999991|0.999991	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.75300|0.75300	-0.3366|-0.3366	10|5	0.26408|.	T|.	0.33|.	-26.4614|-26.4614	14.8277|14.8277	0.70125|0.70125	0.1459:0.8541:0.0:0.0|0.1459:0.8541:0.0:0.0	.|.	296|.	Q7Z4F1|.	LRP10_HUMAN|.	C|L	296|197	ENSP00000352601:R296C;ENSP00000447559:R296C|.	ENSP00000352601:R296C|.	R|S	+|+	1|2	0|0	LRP10|LRP10	22414883|22414883	0.037000|0.037000	0.19845|0.19845	0.999000|0.999000	0.59377|0.59377	0.981000|0.981000	0.71138|0.71138	2.586000|2.586000	0.46119|0.46119	1.517000|1.517000	0.48917|0.48917	-0.181000|-0.181000	0.13052|0.13052	CGT|TCG		0.582	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			23	68	0	0	0	1	0	23	68					T	23345043	C	T	23345043	3	4	137	1	0	0	0	0	1	0	0	0	8952	884	31	1	904	1	LRP10	14	23345043	Missense_Mutation	SNP	C	TCGA-DJ-A3V6-01A-11D-A22Z-08		23345043	84004497	16	2895											
TECR	9524	broad.mit.edu	37	chr19	14674833	14674833	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cggggccccttttcatctacCtgctcttctacttccgagtg	8	15	4	0			TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr19:14674833C>G	ENST00000215567.5	+	6	444	c.307C>G	c.(307-309)Ctg>Gtg	p.L103V	TECR_ENST00000600083.1_5'UTR|TECR_ENST00000596073.1_5'UTR|TECR_ENST00000436007.2_Missense_Mutation_p.L118V	NM_138501.5	NP_612510.1	Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	103					cellular lipid metabolic process (GO:0044255)|fatty acid elongation (GO:0030497)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|nucleus (GO:0005634)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|large_intestine(1)|ovary(1)	3						TTTCATCTACCTGCTCTTCTA	0.557																																						ENST00000436007.2																			0				endometrium(1)|large_intestine(1)|ovary(1)	3						c.(352-354)Ctg>Gtg		trans-2,3-enoyl-CoA reductase							186	198	194					19																	14674833		2203	4300	6503	SO:0001583	missense	9524				fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity	g.chr19:14674833C>G	AK001416	CCDS12313.1	19p13.12	2014-05-27	2009-07-21	2009-07-21	ENSG00000099797	ENSG00000099797			4551	protein-coding gene	gene with protein product		610057	"glycoprotein, synaptic 2"	SC2, GPSN2		9653160, 12482854	Standard	NM_138501		Approved	TER, MRT14	uc002mza.3	Q9NZ01		ENST00000215567.5:c.307C>G	19.37:g.14674833C>G	ENSP00000215567:p.Leu103Val					TECR_ENST00000600083.1_5'UTR|TECR_ENST00000215567.5_Missense_Mutation_p.L103V|TECR_ENST00000596073.1_5'UTR	p.L118V			Q9NZ01	TECR_HUMAN			7	476	+			103					B2RD55|O75350|Q6IBB2|Q9BWK3|Q9Y6P0	Missense_Mutation	SNP	ENST00000215567.5	37	c.352C>G	CCDS12313.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.776448	0.70107	.	.	ENSG00000099797	ENST00000215567;ENST00000436007	T;T	0.26810	1.72;1.71	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000006	T	0.38612	0.1047	M	0.74389	2.26	0.58432	D	0.999996	D;D;D	0.54772	0.968;0.968;0.968	P;P;P	0.47744	0.556;0.556;0.556	T	0.36529	-0.9744	10	0.51188	T	0.08	-9.8364	15.8423	0.78857	0.0:1.0:0.0:0.0	.	103;118;103	B3KM97;B3KSQ1;Q9NZ01	.;.;TECR_HUMAN	V	103;118	ENSP00000215567:L103V;ENSP00000397206:L118V	ENSP00000215567:L103V	L	+	1	2	TECR	14535833	0.073000	0.21202	1.000000	0.80357	0.960000	0.62799	0.432000	0.21461	2.335000	0.79485	0.455000	0.32223	CTG		0.557	TECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466000.1	NM_138501		25	193	0	0	0	1	0	25	193					G	14674833	C	G	14674833	3	3	137	1	0	0	0	0	1	0	0	0	15742	680	24	4	329	4	TECR	19	14674833	Missense_Mutation	SNP	C	TCGA-DJ-A3V6-01A-11D-A22Z-08		14674833	44454150	17	2896											
GGN	199720	broad.mit.edu	37	chr19	38877231	38877231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccatttcgccttcgcccGcatggggaggcgcccctccg	14	17	0	0			TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr19:38877231G>A	ENST00000334928.6	-	3	803	c.671C>T	c.(670-672)gCg>gTg	p.A224V	AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_Intron|SPRED3_ENST00000587013.1_5'Flank	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	224	Interaction with GGNBP1. {ECO:0000250}.|Pro-rich.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCCTTCGCCCGCATGGGGAGG	0.692																																						ENST00000334928.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(670-672)gCg>gTg		gametogenetin							9	11	11					19																	38877231		2116	4172	6288	SO:0001583	missense	199720				cell differentiation|multicellular organismal development|spermatogenesis			g.chr19:38877231G>A	AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.671C>T	19.37:g.38877231G>A	ENSP00000334940:p.Ala224Val					GGN_ENST00000591809.1_Intron|AC005789.9_ENST00000585411.1_RNA	p.A224V	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	803	-	all_cancers(60;3.4e-06)		224			Interaction with GGNBP1 (By similarity).|Pro-rich.		Q7RTU6|Q86UU4|Q8NAA1	Missense_Mutation	SNP	ENST00000334928.6	37	c.671C>T	CCDS12516.1	.	.	.	.	.	.	.	.	.	.	G	9.578	1.122771	0.20877	.	.	ENSG00000179168	ENST00000334928	.	.	.	3.82	0.136	0.14780	.	0.398016	0.18154	N	0.149992	T	0.12732	0.0309	N	0.24115	0.695	0.09310	N	1	P;P	0.50272	0.858;0.933	B;B	0.33846	0.171;0.171	T	0.22068	-1.0227	9	0.54805	T	0.06	-9.3017	3.8411	0.08914	0.2419:0.2025:0.5557:0.0	.	141;224	Q86UU5-2;Q86UU5	.;GGN_HUMAN	V	224	.	ENSP00000334940:A224V	A	-	2	0	GGN	43569071	0.001000	0.12720	0.003000	0.11579	0.185000	0.23345	0.364000	0.20325	0.276000	0.22118	0.462000	0.41574	GCG		0.692	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459205.1	NM_152657		3	32	0	0	0	1	0	3	32					A	38877231	G	A	38877231	3	1	137	1	0	0	0	0	1	0	0	0	6358	1087	38	1	1295	1	GGN	19	38877231	Missense_Mutation	SNP	G	TCGA-DJ-A3V6-01A-11D-A22Z-08	24202398	38877231	20251752	18	2897											
KCNC3	3748	broad.mit.edu	37	chr19	50823987	50823987	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcaggctggtcaatggctGggcagtcctcgtgggcaagc	17	10	1	0	rs376319810		TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr19:50823987G>A	ENST00000477616.1	-	3	2327	c.2033C>T	c.(2032-2034)cCa>cTa	p.P678L	KCNC3_ENST00000376959.2_Missense_Mutation_p.P678L|KCNC3_ENST00000474951.1_5'UTR|KCNC3_ENST00000391818.2_Nonsense_Mutation_p.Q15*	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	678					cell death (GO:0008219)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axolemma (GO:0030673)|axon terminus (GO:0043679)|dendrite membrane (GO:0032590)|neuromuscular junction (GO:0031594)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	Dalfampridine(DB06637)	GTCAATGGCTGGGCAGTCCTC	0.642																																					Melanoma(91;1496 2324 50908)	ENST00000391818.2																			0				endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13						c.(43-45)Cag>Tag		potassium voltage-gated channel, Shaw-related subfamily, member 3							51	48	49					19																	50823987		2203	4300	6503	SO:0001583	missense	3748				cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:50823987G>A	AB208930	CCDS12793.1	19q13.33	2014-09-17			ENSG00000131398	ENSG00000131398		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6235	protein-coding gene	gene with protein product		176264	"spinocerebellar ataxia 13"	SCA13		1740329, 8111118, 16382104	Standard	NM_004977		Approved	Kv3.3	uc002pru.1	Q14003	OTTHUMG00000044580	ENST00000477616.1:c.2033C>T	19.37:g.50823987G>A	ENSP00000434241:p.Pro678Leu					KCNC3_ENST00000376959.2_Missense_Mutation_p.P678L|KCNC3_ENST00000477616.1_Missense_Mutation_p.P678L|KCNC3_ENST00000474951.1_5'UTR	p.Q15*			Q14003	KCNC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	2	101	-		all_neural(266;0.057)|Ovarian(192;0.208)	29						Nonsense_Mutation	SNP	ENST00000477616.1	37	c.43C>T	CCDS12793.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.8|24.8	4.568792|4.568792	0.86439|0.86439	.|.	.|.	ENSG00000131398|ENSG00000131398	ENST00000376959;ENST00000477616;ENST00000443843|ENST00000391818	D;D|.	0.98747|.	-4.94;-5.11|.	2.72|2.72	2.72|2.72	0.32119|0.32119	.|.	7.292050|.	0.01802|.	U|.	0.032936|.	T|.	0.51244|.	0.1663|.	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	A|A	1|1	D;D|.	0.89917|.	1.0;0.994|.	D;P|.	0.80764|.	0.994;0.908|.	T|.	0.66252|.	-0.5970|.	9|.	0.72032|0.87932	D|D	0.01|0	.|.	11.2081|11.2081	0.48782|0.48782	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	678;678|.	Q14003;E7ETH1|.	KCNC3_HUMAN;.|.	L|X	678;678;492|15	ENSP00000366158:P678L;ENSP00000434241:P678L|.	ENSP00000366158:P678L|ENSP00000375694:Q15X	P|Q	-|-	2|1	0|0	KCNC3|KCNC3	55515799|55515799	1.000000|1.000000	0.71417|0.71417	0.970000|0.970000	0.41538|0.41538	0.871000|0.871000	0.50021|0.50021	8.196000|8.196000	0.89725|0.89725	1.540000|1.540000	0.49301|0.49301	0.460000|0.460000	0.39030|0.39030	CCA|CAG		0.642	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314288.2	NM_004977		5	39	0	0	0	1	0	5	39					A	50823987	G	A	50823987	3	1	137	1	0	0	0	0	1	0	0	0	8016	1348	47	2	248	2	KCNC3	19	50823987	Missense_Mutation	SNP	G	TCGA-DJ-A3V6-01A-11D-A22Z-08	11946756	50823987	8304996	19	2898											
SMARCB1	6598	broad.mit.edu	37	chr22	24167513	24167513	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgccctgaagctgtgctcGgagctggggttgggcgggga	19	8	0	1	rs587779751|rs2229354	byFrequency	TCGA-DJ-A3V6-01A-11D-A22Z-08	TCGA-DJ-A3V6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82fd9da2-097f-4cb1-8f68-56fa6b6d20ce	1d024108-51ca-4b2f-bd0e-aeb64ce669ba	g.chr22:24167513G>A	ENST00000263121.7	+	7	1093	c.897G>A	c.(895-897)tcG>tcA	p.S299S	SMARCB1_ENST00000344921.6_Silent_p.S308S|SMARCB1_ENST00000407422.3_Silent_p.S290S|SMARCB1_ENST00000407082.3_Silent_p.S253S	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	299	2 X approximate tandem repeats.				ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(6)|p.S299S(4)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				AGCTGTGCTCGGAGCTGGGGT	0.547			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid							G|||	527	0.105232	0.0983	0.0706	5008	,	,		18521	0.0595		0.1153	False		,,,				2504	0.1759					ENST00000344921.6			yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"D, N, F, S"	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"			M		malignant rhabdoid	malignant rhabdoid		11	Unknown(6)|Substitution - coding silent(4)|Deletion - In frame(1)	p.?(6)|p.S299S(4)|p.L266_*386del(1)	central_nervous_system(6)|haematopoietic_and_lymphoid_tissue(4)|soft_tissue(1)	bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458						c.(922-924)tcG>tcA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1		G	,	402,4004	198.4+/-222.2	17,368,1818	107	82	91		870,897	-11.4	0.1	22	dbSNP_98	91	983,7617	213.1+/-253.2	62,859,3379	no	coding-synonymous,coding-synonymous	SMARCB1	NM_001007468.1,NM_003073.3	,	79,1227,5197	AA,AG,GG		11.4302,9.1239,10.6489	,	290/377,299/386	24167513	1385,11621	2203	4300	6503	SO:0001819	synonymous_variant	6598				cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	g.chr22:24167513G>A	U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"sucrose nonfermenting, yeast, homolog-like 1", "integrase interactor 1", "malignant rhabdoid tumor suppressor", "protein phosphatase 1, regulatory subunit 144"	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.897G>A	22.37:g.24167513G>A						SMARCB1_ENST00000407422.3_Silent_p.S290S|SMARCB1_ENST00000407082.3_Silent_p.S253S|SMARCB1_ENST00000263121.7_Silent_p.S299S	p.S308S			Q12824	SNF5_HUMAN			7	1131	+		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)	299			2 X approximate tandem repeats.|Interaction with PPP1R15A.		O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Silent	SNP	ENST00000263121.7	37	c.924G>A	CCDS13817.1																																																																																				0.547	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1	NM_003073		4	68	0	0	0	1	0	4	68					A	24167513	G	A	24167513	2	1	137	1	0	0	0	0	0	0	0	1	14774	1103	39	1		1	SMARCB1	22	24167513	Silent	SNP	G	TCGA-DJ-A3V6-01A-11D-A22Z-08		24167513	27137053	20	2899											
TNFRSF1B	7133	broad.mit.edu	37	chr1	12251959	12251959	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgctgcgcaagtgccgcccgGgcttcggcgtggccagacca	15	16	0	1			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr1:12251959G>T	ENST00000376259.3	+	4	525	c.436G>T	c.(436-438)Ggc>Tgc	p.G146C	TNFRSF1B_ENST00000536782.1_Missense_Mutation_p.G146C|MIR4632_ENST00000584158.1_RNA|TNFRSF1B_ENST00000492361.1_3'UTR	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	146					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)	p.G146R(1)		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)	GTGCCGCCCGGGCTTCGGCGT	0.682																																						ENST00000376259.3																			1	Substitution - Missense(1)	p.G146R(1)	lung(1)	central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(436-438)Ggc>Tgc		tumor necrosis factor receptor superfamily, member 1B	Etanercept(DB00005)|Infliximab(DB00065)						16	19	18					1																	12251959		2197	4286	6483	SO:0001583	missense	7133				apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity	g.chr1:12251959G>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.436G>T	1.37:g.12251959G>T	ENSP00000365435:p.Gly146Cys					TNFRSF1B_ENST00000492361.1_3'UTR|TNFRSF1B_ENST00000536782.1_Missense_Mutation_p.G146C	p.G146C	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)	4	525	+	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)	146					B1AJZ3|Q16042|Q6YI29|Q9UIH1	Missense_Mutation	SNP	ENST00000376259.3	37	c.436G>T	CCDS145.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635561	0.67130	.	.	ENSG00000028137	ENST00000376259;ENST00000400863;ENST00000536782	D;D	0.99724	-6.54;-4.69	3.91	3.91	0.45181	TNFR/CD27/30/40/95 cysteine-rich region (2);	0.000000	0.85682	D	0.000000	D	0.99743	0.9898	H	0.94964	3.605	0.47659	D	0.999485	D	0.89917	1.0	D	0.97110	1.0	D	0.97262	0.9905	10	0.87932	D	0	-39.3817	11.6276	0.51156	0.0:0.0:1.0:0.0	.	146	P20333	TNR1B_HUMAN	C	146	ENSP00000365435:G146C;ENSP00000440425:G146C	ENSP00000365435:G146C	G	+	1	0	TNFRSF1B	12174546	0.991000	0.36638	0.756000	0.31282	0.095000	0.18619	2.586000	0.46119	2.198000	0.70561	0.555000	0.69702	GGC		0.682	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005133.1	NM_001066		3	30	1	0	6.4e-05	1	6.98182e-05	3	30					T	12251959	G	T	12251959	3	4	138	1	0	0	0	0	1	0	0	0	16291	1232	43	4	450	4	TNFRSF1B	1	12251959	Missense_Mutation	SNP	G	TCGA-DJ-A3V7-01A-11D-A23M-08		12251959	236998662	1	2900											
SRRM1	10250	broad.mit.edu	37	chr1	24978928	24978928	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcttttgtttccacagtgaCattctgaaagttcccaaacc	6	11	1	2			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr1:24978928C>A	ENST00000323848.9	+	7	1044	c.729C>A	c.(727-729)gaC>gaA	p.D243E	SRRM1_ENST00000537199.1_Missense_Mutation_p.D112E|SRRM1_ENST00000374389.4_Missense_Mutation_p.D243E|SRRM1_ENST00000447431.2_Missense_Mutation_p.D243E|SRRM1_ENST00000479034.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	243	Arg-rich.|Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TCCACAGTGACATTCTGAAAG	0.348																																					Ovarian(68;897 1494 3282 17478)	ENST00000323848.9																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36						c.(727-729)gaC>gaA		serine/arginine repetitive matrix 1							24	27	26					1																	24978928		2203	4299	6502	SO:0001583	missense	10250				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	g.chr1:24978928C>A	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"Ser/Arg-related nuclear matrix protein", "plenty of prolines 101-like"	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.729C>A	1.37:g.24978928C>A	ENSP00000326261:p.Asp243Glu					SRRM1_ENST00000447431.2_Missense_Mutation_p.D243E|SRRM1_ENST00000374389.4_Missense_Mutation_p.D243E|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000537199.1_Missense_Mutation_p.D112E	p.D243E	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	7	1044	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	243			Arg-rich.|Pro-rich.		O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	c.729C>A	CCDS255.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.850047	0.51270	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389;ENST00000537199	T;T;T;T	0.47177	0.91;0.93;0.91;0.85	6.05	2.13	0.27403	.	0.000000	0.64402	D	0.000003	T	0.58148	0.2102	L	0.53249	1.67	0.47905	D	0.999545	D;D	0.61697	0.99;0.984	D;D	0.70935	0.971;0.935	T	0.56505	-0.7968	10	0.62326	D	0.03	-2.2877	8.9045	0.35515	0.0:0.5301:0.0:0.4699	.	243;243	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	E	243;243;243;112	ENSP00000326261:D243E;ENSP00000391430:D243E;ENSP00000363510:D243E;ENSP00000441776:D112E	ENSP00000326261:D243E	D	+	3	2	SRRM1	24851515	0.988000	0.35896	1.000000	0.80357	0.985000	0.73830	0.142000	0.16096	0.462000	0.27095	0.650000	0.86243	GAC		0.348	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		4	33	1	0	2.56e-06	1	2.89811e-06	4	33					A	24978928	C	A	24978928	3	1	138	1	0	0	0	0	1	0	0	0	15167	477	17	4	755	4	SRRM1	1	24978928	Missense_Mutation	SNP	C	TCGA-DJ-A3V7-01A-11D-A23M-08	12726969	24978928	224271693	2	2901											
LMOD1	25802	broad.mit.edu	37	chr1	201868633	201868633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggggagcccttagccacgGccccggccttgggtacctcc	13	16	0	0			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr1:201868633G>A	ENST00000367288.4	-	2	1754	c.1508C>T	c.(1507-1509)gCc>gTc	p.A503V	RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	503					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CTTAGCCACGGCCCCGGCCTT	0.582																																						ENST00000367288.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1507-1509)gCc>gTc		leiomodin 1 (smooth muscle)							47	50	49					1																	201868633		1958	4134	6092	SO:0001583	missense	25802				muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding	g.chr1:201868633G>A	X54162	CCDS53457.1	1q32.1	2008-05-22			ENSG00000163431	ENSG00000163431			6647	protein-coding gene	gene with protein product		602715					Standard	NM_012134		Approved	64kD, D1, 1D	uc021phl.1	P29536	OTTHUMG00000035802	ENST00000367288.4:c.1508C>T	1.37:g.201868633G>A	ENSP00000356257:p.Ala503Val					RP11-307B6.3_ENST00000414927.1_RNA|RP11-307B6.3_ENST00000458139.1_RNA	p.A503V	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN			2	1754	-			503					B1APV6|C4AMB1|Q68EN2	Missense_Mutation	SNP	ENST00000367288.4	37	c.1508C>T	CCDS53457.1	.	.	.	.	.	.	.	.	.	.	G	6.579	0.475137	0.12521	.	.	ENSG00000163431	ENST00000367288;ENST00000400965;ENST00000412469	T	0.23348	1.91	4.52	1.34	0.21922	.	0.591551	0.14085	N	0.342456	T	0.12178	0.0296	N	0.16790	0.44	0.09310	N	1	P;P	0.36222	0.544;0.544	B;B	0.33339	0.116;0.162	T	0.19484	-1.0304	10	0.25751	T	0.34	-5.1925	5.7796	0.18299	0.191:0.1611:0.6479:0.0	.	452;503	B4E3S9;P29536	.;LMOD1_HUMAN	V	503;503;452	ENSP00000356257:A503V	ENSP00000356257:A503V	A	-	2	0	LMOD1	200135256	0.033000	0.19621	0.023000	0.16930	0.117000	0.20001	2.175000	0.42491	0.435000	0.26365	-0.136000	0.14681	GCC		0.582	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087085.2			4	37	0	0	0	1	0	4	37					A	201868633	G	A	201868633	3	1	138	1	0	0	0	0	1	0	0	0	8856	1203	42	2	302	2	LMOD1	1	201868633	Missense_Mutation	SNP	G	TCGA-DJ-A3V7-01A-11D-A23M-08	176889705	201868633	47381988	3	2902											
OR2T27	403239	broad.mit.edu	37	chr1	248813300	248813300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgtagggcccctgtgacatCcttgttcctaaggctgtaaa	10	11	0	1			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr1:248813300C>T	ENST00000344889.3	-	1	885	c.886G>A	c.(886-888)Gat>Aat	p.D296N		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCTGTGACATCCTTGTTCCTA	0.463																																						ENST00000344889.3																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32						c.(886-888)Gat>Aat		olfactory receptor, family 2, subfamily T, member 27							74	75	75					1																	248813300		2170	4270	6440	SO:0001583	missense	403239				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248813300C>T		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"GPCR / Class A : Olfactory receptors"	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.886G>A	1.37:g.248813300C>T	ENSP00000342008:p.Asp296Asn						p.D296N	NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	885	-	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	296						Missense_Mutation	SNP	ENST00000344889.3	37	c.886G>A	CCDS31124.1	.	.	.	.	.	.	.	.	.	.	.	13.18	2.159402	0.38119	.	.	ENSG00000187701	ENST00000344889	T	0.38077	1.16	3.3	3.3	0.37823	.	0.000000	0.40818	N	0.001007	T	0.54351	0.1853	M	0.88979	2.995	0.26993	N	0.965109	P	0.42409	0.779	P	0.48770	0.589	T	0.56637	-0.7946	10	0.59425	D	0.04	.	13.8339	0.63398	0.0:1.0:0.0:0.0	.	296	Q8NH04	O2T27_HUMAN	N	296	ENSP00000342008:D296N	ENSP00000342008:D296N	D	-	1	0	OR2T27	246879923	0.983000	0.35010	0.971000	0.41717	0.107000	0.19398	3.372000	0.52387	1.829000	0.53265	0.407000	0.27541	GAT		0.463	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		6	115	0	0	0	1	0	6	115					T	248813300	C	T	248813300	3	4	138	1	0	0	0	0	1	0	0	0	11021	855	30	2	70	2	OR2T27	1	248813300	Missense_Mutation	SNP	C	TCGA-DJ-A3V7-01A-11D-A23M-08	46944667	248813300	437321	4	2903											
NEK10	152110	broad.mit.edu	37	chr3	27326389	27326389	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggtgatgtttttccttcaaaGaactgaaatgctctccaagc	8	9	2	3	rs372441033		TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr3:27326389G>T	ENST00000429845.2	-	22	2215	c.1853C>A	c.(1852-1854)tCt>tAt	p.S618Y	NEK10_ENST00000357467.2_Missense_Mutation_p.S15Y|NEK10_ENST00000341435.5_Missense_Mutation_p.S618Y			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	618	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTCCTTCAAAGAACTGAAATG	0.313																																						ENST00000429845.2																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1852-1854)tCt>tAt		NIMA-related kinase 10		G	TYR/SER	1,4401		0,1,2200	77	86	83		1853	5.7	1.0	3		83	0,8594		0,0,4297	no	missense	NEK10	NM_199347.2	144	0,1,6497	TT,TG,GG		0.0,0.0227,0.0077	possibly-damaging	618/713	27326389	1,12995	2201	4297	6498	SO:0001583	missense	152110						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr3:27326389G>T	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"NIMA (never in mitosis gene a)- related kinase 10"			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.1853C>A	3.37:g.27326389G>T	ENSP00000395849:p.Ser618Tyr					NEK10_ENST00000341435.5_Missense_Mutation_p.S618Y|NEK10_ENST00000357467.2_Missense_Mutation_p.S15Y	p.S618Y			Q6ZWH5	NEK10_HUMAN			22	2215	-			618			Protein kinase.		A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	ENST00000429845.2	37	c.1853C>A		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	28.0|28.0|28.0	4.884356|4.884356|4.884356	0.91814|0.91814|0.91814	2.27E-4|2.27E-4|2.27E-4	0.0|0.0|0.0	ENSG00000163491|ENSG00000163491|ENSG00000163491	ENST00000435584|ENST00000424275|ENST00000357467;ENST00000341435;ENST00000396636	.|.|T;T	.|.|0.63096	.|.|-0.02;-0.02	5.69|5.69|5.69	5.69|5.69|5.69	0.88448|0.88448|0.88448	.|.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|.|0.109014	.|.|0.64402	.|.|D	.|.|0.000005	T|T|T	0.69637|0.69637|0.69637	0.3133|0.3133|0.3133	N|N|N	0.25201|0.25201|0.25201	0.72|0.72|0.72	0.51233|0.51233|0.51233	D|D|D	0.99991|0.99991|0.99991	.|.|D;D	.|.|0.76494	.|.|0.998;0.999	.|.|D;D	.|.|0.71870	.|.|0.954;0.975	T|T|T	0.71652|0.71652|0.71652	-0.4528|-0.4528|-0.4528	5|5|10	.|.|0.54805	.|.|T	.|.|0.06	.|.|.	19.8138|19.8138|19.8138	0.96557|0.96557|0.96557	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|618;15	.|.|Q6ZWH5;Q8N774	.|.|NEK10_HUMAN;.	L|I|Y	74|105|15;618;618	.|.|ENSP00000350059:S15Y;ENSP00000343847:S618Y	.|.|ENSP00000343847:S618Y	F|L|S	-|-|-	3|1|2	2|0|0	NEK10|NEK10|NEK10	27301393|27301393|27301393	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.965000|0.965000|0.965000	0.64279|0.64279|0.64279	7.397000|7.397000|7.397000	0.79903|0.79903|0.79903	2.694000|2.694000|2.694000	0.91930|0.91930|0.91930	0.484000|0.484000|0.484000	0.47621|0.47621|0.47621	TTC|CTT|TCT		0.313	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534		5	102	1	0	0.014758	1	0.0150081	5	102					T	27326389	G	T	27326389	3	4	138	1	0	0	0	0	1	0	0	0	10322	942	33	4	301	4	NEK10	3	27326389	Missense_Mutation	SNP	G	TCGA-DJ-A3V7-01A-11D-A23M-08		27326389	170696041	5	2904											
PXK	54899	broad.mit.edu	37	chr3	58395861	58395861	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatagtgaagagcattcagcGaagtacagcaactccaataa	8	8	1	2			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr3:58395861G>A	ENST00000356151.2	+	16	1549	c.1440G>A	c.(1438-1440)gcG>gcA	p.A480A	PXK_ENST00000479241.1_Silent_p.A463A|PXK_ENST00000484288.1_Silent_p.A480A|PXK_ENST00000302779.5_Silent_p.A463A|PXK_ENST00000383715.4_Silent_p.A463A|PXK_ENST00000536660.1_Silent_p.A343A|PXK_ENST00000463280.1_Silent_p.A447A|PXK_ENST00000383716.3_Silent_p.A447A	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase											cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		AGCATTCAGCGAAGTACAGCA	0.433																																						ENST00000463280.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1339-1341)gcG>gcA		PX domain containing serine/threonine kinase							88	81	84					3																	58395861		2203	4300	6503	SO:0001819	synonymous_variant	54899				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity	g.chr3:58395861G>A	AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.1440G>A	3.37:g.58395861G>A						PXK_ENST00000383716.3_Silent_p.A447A|PXK_ENST00000302779.5_Silent_p.A463A|PXK_ENST00000356151.2_Silent_p.A480A|PXK_ENST00000484288.1_Silent_p.A480A|PXK_ENST00000536660.1_Silent_p.A343A|PXK_ENST00000479241.1_Silent_p.A463A|PXK_ENST00000383715.4_Silent_p.A463A	p.A447A			Q7Z7A4	PXK_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)	14	1432	+			480			Protein kinase.			Silent	SNP	ENST00000356151.2	37	c.1341G>A	CCDS2889.1	.	.	.	.	.	.	.	.	.	.	G	7.739	0.700803	0.15172	.	.	ENSG00000168297	ENST00000479134;ENST00000495557	.	.	.	5.9	-4.12	0.03916	.	.	.	.	.	T	0.51024	0.1650	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	T	0.51293	-0.8724	4	.	.	.	0.1151	8.2699	0.31838	0.3948:0.2533:0.3519:0.0	.	.	.	.	Q	235;52	.	.	R	+	2	0	PXK	58370901	0.006000	0.16342	0.223000	0.23860	0.945000	0.59286	0.012000	0.13287	-0.435000	0.07264	-0.376000	0.06991	CGA		0.433	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353499.1	NM_017771		33	41	0	0	0	1	0	33	41					A	58395861	G	A	58395861	2	1	138	1	0	0	0	0	0	0	0	1	12849	1045	37	1		1	PXK	3	58395861	Silent	SNP	G	TCGA-DJ-A3V7-01A-11D-A23M-08	31069472	58395861	139626569	6	2905											
MYLK	4638	broad.mit.edu	37	chr3	123345699	123345699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccatgtacttcttcatcCggtccttggagagtttcttg	9	10	3	1			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr3:123345699C>T	ENST00000475616.1	-	28	5203	c.5204G>A	c.(5203-5205)cGg>cAg	p.R1735Q	MYLK_ENST00000360304.3_Missense_Mutation_p.R1735Q|MYLK-AS1_ENST00000470449.1_RNA|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000354792.5_Missense_Mutation_p.R535Q|MYLK_ENST00000346322.5_Missense_Mutation_p.R1666Q|MYLK_ENST00000359169.1_Missense_Mutation_p.R1684Q|MYLK_ENST00000418370.2_5'Flank|MYLK_ENST00000360772.3_Missense_Mutation_p.R1684Q|MYLK-AS1_ENST00000463408.1_RNA			Q15746	MYLK_HUMAN	myosin light chain kinase	1735	Calmodulin-binding.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTTCTTCATCCGGTCCTTGGA	0.493																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(5050-5052)cGg>cAg		myosin light chain kinase							196	144	162					3																	123345699		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123345699C>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.5204G>A	3.37:g.123345699C>T	ENSP00000418335:p.Arg1735Gln					MYLK-AS1_ENST00000485162.1_RNA|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000475616.1_Missense_Mutation_p.R1735Q|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000360304.3_Missense_Mutation_p.R1735Q|MYLK_ENST00000359169.1_Missense_Mutation_p.R1684Q|MYLK_ENST00000354792.5_Missense_Mutation_p.R535Q|MYLK_ENST00000346322.5_Missense_Mutation_p.R1666Q	p.R1684Q			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	31	5429	-		Lung NSC(201;0.0496)	1735			Protein kinase.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.5051G>A	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	C	36	5.663878	0.96745	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000354792;ENST00000475616	T;T;T;T;T;T	0.66280	-0.14;-0.2;-0.14;-0.19;0.05;-0.2	5.22	5.22	0.72569	Protein kinase-like domain (1);	.	.	.	.	T	0.75302	0.3831	L	0.47190	1.495	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	0.87578	0.998;0.998;0.979;0.998;0.997	T	0.76677	-0.2871	9	0.72032	D	0.01	.	18.9654	0.92694	0.0:1.0:0.0:0.0	.	1735;1615;1684;1666;1735	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	Q	1684;1735;1684;1666;535;1735	ENSP00000354004:R1684Q;ENSP00000353452:R1735Q;ENSP00000352088:R1684Q;ENSP00000320622:R1666Q;ENSP00000346846:R535Q;ENSP00000418335:R1735Q	ENSP00000320622:R1666Q	R	-	2	0	MYLK	124828389	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.339000	0.79282	2.732000	0.93576	0.591000	0.81541	CGG		0.493	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		13	105	0	0	0	1	0	13	105					T	123345699	C	T	123345699	3	4	138	1	0	0	0	0	1	0	0	0	10056	652	23	1	556	1	MYLK	3	123345699	Missense_Mutation	SNP	C	TCGA-DJ-A3V7-01A-11D-A23M-08	64949838	123345699	74676731	7	2906											
MED12L	116931	broad.mit.edu	37	chr3	151127118	151127118	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccagggctgcagcaagcaCaggtacccacatttgctttg	10	12	0	0			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr3:151127118C>T	ENST00000474524.1	+	38	5841	c.5803C>T	c.(5803-5805)Cag>Tag	p.Q1935*	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1935	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCAAGCACAGGTACCCAC	0.507																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(5803-5805)Cag>Tag		mediator complex subunit 12-like							56	56	56					3																	151127118		2203	4300	6503	SO:0001587	stop_gained	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151127118C>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5803C>T	3.37:g.151127118C>T	ENSP00000417235:p.Gln1935*					MED12L_ENST00000273432.4_Intron	p.Q1935*	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		38	5841	+			1935			Gln-rich.		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Nonsense_Mutation	SNP	ENST00000474524.1	37	c.5803C>T	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	46	12.925596	0.99707	.	.	ENSG00000144893	ENST00000474524	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-2.7654	17.4518	0.87594	0.0:1.0:0.0:0.0	.	.	.	.	X	1935	.	ENSP00000417235:Q1935X	Q	+	1	0	MED12L	152609808	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.712000	0.61888	2.713000	0.92767	0.655000	0.94253	CAG		0.507	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		6	98	0	0	0	1	0	6	98					T	151127118	C	T	151127118	4	4	138	1	0	0	0	0	0	1	0	0	9429	479	17	2	5953	2	MED12L	3	151127118	Nonsense_Mutation	SNP	C	TCGA-DJ-A3V7-01A-11D-A23M-08	27781419	151127118	46895312	8	2907											
TRIM59	286827	broad.mit.edu	37	chr3	160156367	160156368	+	Frame_Shift_Ins	INS	-	-	T													acagagagccgttaggaaacINSttttttttttctgttctaat							TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr3:160156367_160156368insT	ENST00000309784.4	-	3	789_790	c.604_605insA	c.(604-606)agtfs	p.S202fs	RP11-432B6.3_ENST00000483754.1_Frame_Shift_Ins_p.S202fs|TRIM59_ENST00000543469.1_Frame_Shift_Ins_p.S202fs	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	202					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral entry into host cell (GO:0046597)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S202fs*3(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CGTTAGGAAACTTTTTTTTTTC	0.342																																						ENST00000543469.1																			1	Deletion - Frameshift(1)	p.S202fs*3(1)	ovary(1)	breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15						c.(604-606)tttfs		tripartite motif containing 59																																				SO:0001589	frameshift_variant	286827					integral to membrane|intracellular	zinc ion binding	g.chr3:160156367_160156368insT	AY159379	CCDS3190.1	3q26	2013-01-09	2011-01-25		ENSG00000213186	ENSG00000213186		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	30834	protein-coding gene	gene with protein product			"tripartite motif-containing 57", "tripartite motif-containing 59"	TRIM57		12095697	Standard	NM_173084		Approved	TSBF1, Mrf1, RNF104	uc003fdm.3	Q8IWR1	OTTHUMG00000159034	ENST00000309784.4:c.605dupA	3.37:g.160156377_160156377dupT	ENSP00000311219:p.Ser202fs					TRIM59_ENST00000309784.4_Frame_Shift_Ins_p.F202fs|RP11-432B6.3_ENST00000483754.1_Frame_Shift_Ins_p.F202fs	p.F202fs			Q8IWR1	TRI59_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		2	818_819	-			202					A8K5G9|D3DNL9	Frame_Shift_Ins	INS	ENST00000309784.4	37	c.604_605insA	CCDS3190.1																																																																																				0.342	TRIM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352963.1	NM_173084		10	154						10	154	---	---	---	---	T	160156368	-	T	160156367	7	5	138	1	0	1	1	0	0	0	0	0	16529	565	20	0	610	0	TRIM59	3	160156367	Frame_Shift_Ins	INS	-	TCGA-DJ-A3V7-01A-11D-A23M-08	9029249	160156367	37866063	9	2908											
GAK	2580	broad.mit.edu	37	chr4	890299	890299	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggaatacaagtctatgatTtctggtgttctatacattgg	9	5	3	1			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr4:890299T>C	ENST00000314167.4	-	7	800	c.690A>G	c.(688-690)gaA>gaG	p.E230E	GAK_ENST00000511163.1_Silent_p.E151E	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	230	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		AGTCTATGATTTCTGGTGTTC	0.453																																						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.(688-690)gaA>gaG		cyclin G associated kinase							150	129	136					4																	890299		2203	4300	6503	SO:0001819	synonymous_variant	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:890299T>C	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.690A>G	4.37:g.890299T>C						GAK_ENST00000511163.1_Silent_p.E151E	p.E230E	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN		Colorectal(103;0.219)	7	800	-			230			Protein kinase.		Q5U4P5|Q9BVY6	Silent	SNP	ENST00000314167.4	37	c.690A>G	CCDS3340.1																																																																																				0.453	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		11	59	0	0	0	1	0	11	59					C	890299	T	C	890299	2	2	138	1	0	0	0	0	0	0	0	1	6195	1838	64	3		3	GAK	4	890299	Silent	SNP	T	TCGA-DJ-A3V7-01A-11D-A23M-08		890299	190263977	10	2909											
RAB33B	83452	broad.mit.edu	37	chr4	140375591	140375591	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggagattgatggggagcGcatcaaggtgagcggatggg	21	4	1	3			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr4:140375591G>A	ENST00000305626.5	+	1	631	c.242G>A	c.(241-243)cGc>cAc	p.R81H	RP11-83A24.2_ENST00000610159.1_RNA|RP11-83A24.2_ENST00000608663.1_RNA|RP11-83A24.2_ENST00000609359.1_RNA|RP11-83A24.2_ENST00000608661.1_RNA	NM_031296.1	NP_112586.1	Q9H082	RB33B_HUMAN	RAB33B, member RAS oncogene family	81					autophagy (GO:0006914)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of retrograde vesicle-mediated transport, Golgi to ER (GO:2000156)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_hematologic(180;0.162)					GATGGGGAGCGCATCAAGGTG	0.652																																						ENST00000305626.5																			0				large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						c.(241-243)cGc>cAc		RAB33B, member RAS oncogene family							47	43	45					4																	140375591		2203	4300	6503	SO:0001583	missense	83452				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	g.chr4:140375591G>A	AF350420	CCDS3747.1	4q28	2008-02-05			ENSG00000172007	ENSG00000172007		"RAB, member RAS oncogene"	16075	protein-coding gene	gene with protein product		605950					Standard	NM_031296		Approved	DKFZP434G099	uc003ihv.3	Q9H082	OTTHUMG00000133384	ENST00000305626.5:c.242G>A	4.37:g.140375591G>A	ENSP00000306496:p.Arg81His						p.R81H	NM_031296.1	NP_112586.1	Q9H082	RB33B_HUMAN			1	631	+	all_hematologic(180;0.162)		81					B2R987|Q4W5B0	Missense_Mutation	SNP	ENST00000305626.5	37	c.242G>A	CCDS3747.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.612724	0.66672	.	.	ENSG00000172007	ENST00000305626	T	0.77098	-1.07	5.31	4.41	0.53225	Small GTP-binding protein domain (1);	0.105732	0.64402	D	0.000014	T	0.67325	0.2881	L	0.40543	1.245	0.45427	D	0.998402	P	0.45569	0.861	B	0.38842	0.283	T	0.71417	-0.4599	10	0.56958	D	0.05	.	11.001	0.47604	0.0729:0.1303:0.7968:0.0	.	81	Q9H082	RB33B_HUMAN	H	81	ENSP00000306496:R81H	ENSP00000306496:R81H	R	+	2	0	RAB33B	140595041	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	2.950000	0.49081	2.635000	0.89317	0.563000	0.77884	CGC		0.652	RAB33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257235.2	NM_031296		3	34	0	0	0	1	0	3	34					A	140375591	G	A	140375591	3	1	138	1	0	0	0	0	1	0	0	0	12923	1087	38	1	244	1	RAB33B	4	140375591	Missense_Mutation	SNP	G	TCGA-DJ-A3V7-01A-11D-A23M-08	139485292	140375591	50778685	11	2910											
TLR3	7098	broad.mit.edu	37	chr4	187000075	187000075	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttcagctggaaaatctccaaGagcttctattatcaaacaat	5	9	4	1			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr4:187000075G>C	ENST00000296795.3	+	3	627	c.523G>C	c.(523-525)Gag>Cag	p.E175Q	TLR3_ENST00000504367.1_5'Flank	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	175					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		AAATCTCCAAGAGCTTCTATT	0.313																																						ENST00000296795.2																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(523-525)Gag>Cag		toll-like receptor 3							41	47	45					4																	187000075		2202	4299	6501	SO:0001583	missense	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:187000075G>C	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"CD molecules"	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.523G>C	4.37:g.187000075G>C	ENSP00000296795:p.Glu175Gln						p.E175Q	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	3	627	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	175					B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Missense_Mutation	SNP	ENST00000296795.3	37	c.523G>C	CCDS3846.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616723	0.66672	.	.	ENSG00000164342	ENST00000296795;ENST00000513189;ENST00000542020	T;T	0.59638	0.31;0.25	5.48	4.59	0.56863	.	0.370309	0.34156	N	0.004210	T	0.48768	0.1518	L	0.45137	1.4	0.80722	D	1	P	0.39282	0.666	B	0.33799	0.17	T	0.56811	-0.7917	10	0.56958	D	0.05	.	15.736	0.77842	0.0:0.1366:0.8634:0.0	.	175	O15455	TLR3_HUMAN	Q	175	ENSP00000296795:E175Q;ENSP00000423386:E175Q	ENSP00000296795:E175Q	E	+	1	0	TLR3	187237069	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.201000	0.51059	2.573000	0.86826	0.650000	0.86243	GAG		0.313	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			23	30	0	0	0	1	0	23	30					C	187000075	G	C	187000075	3	2	138	1	0	0	0	0	1	0	0	0	15949	943	33	4	529	4	TLR3	4	187000075	Missense_Mutation	SNP	G	TCGA-DJ-A3V7-01A-11D-A23M-08	46624484	187000075	4154201	12	2911											
DMXL1	1657	broad.mit.edu	37	chr5	118506611	118506611	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gattctcacagtagaacttcGtactttatctactggctatg	7	9	2	1			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr5:118506611G>T	ENST00000311085.8	+	24	6205	c.6125G>T	c.(6124-6126)cGt>cTt	p.R2042L	DMXL1_ENST00000539542.1_Missense_Mutation_p.R2042L	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2042										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GTAGAACTTCGTACTTTATCT	0.358																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(6124-6126)cGt>cTt		Dmx-like 1							59	62	61					5																	118506611		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118506611G>T	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.6125G>T	5.37:g.118506611G>T	ENSP00000309690:p.Arg2042Leu					DMXL1_ENST00000539542.1_Missense_Mutation_p.R2042L	p.R2042L	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	24	6205	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2042						Missense_Mutation	SNP	ENST00000311085.8	37	c.6125G>T	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.413557	0.83449	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.78126	-1.15;-1.15	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.88687	0.6504	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.78314	0.991;0.967	D	0.89343	0.3655	10	0.66056	D	0.02	-15.5055	19.3932	0.94594	0.0:0.0:1.0:0.0	.	2042;2042	F5H269;Q9Y485	.;DMXL1_HUMAN	L	2042	ENSP00000309690:R2042L;ENSP00000439479:R2042L	ENSP00000309690:R2042L	R	+	2	0	DMXL1	118534510	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.577000	0.86979	0.557000	0.71058	CGT		0.358	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		43	46	1	0	1.57019e-19	1	1.84729e-19	43	46					T	118506611	G	T	118506611	3	4	138	1	0	0	0	0	1	0	0	0	4594	1145	40	4	6219	4	DMXL1	5	118506611	Missense_Mutation	SNP	G	TCGA-DJ-A3V7-01A-11D-A23M-08		118506611	62408649	13	2912											
PCDHB6	56130	broad.mit.edu	37	chr5	140531054	140531054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaccctggtaacagaaggcGcgctggacagagagagcaga	14	10	0	4			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr5:140531054G>A	ENST00000231136.1	+	1	1216	c.1216G>A	c.(1216-1218)Gcg>Acg	p.A406T	PCDHB6_ENST00000543635.1_Missense_Mutation_p.A270T	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	406	Cadherin 4. {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)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACAGAAGGCGCGCTGGACAG	0.483																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(1216-1218)Gcg>Acg									112	114	114					5																	140531054		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531054G>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1216G>A	5.37:g.140531054G>A	ENSP00000231136:p.Ala406Thr					PCDHB6_ENST00000543635.1_Missense_Mutation_p.A270T	p.A406T	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1216	+			406			Cadherin 4.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.1216G>A	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	2.570	-0.299858	0.05532	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.02682	4.2;4.2	4.59	-1.37	0.09056	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.03136	0.0092	L	0.41079	1.255	0.09310	N	1	B	0.25521	0.128	B	0.21917	0.037	T	0.36601	-0.9741	9	0.42905	T	0.14	.	11.1183	0.48273	0.0:0.4571:0.3088:0.2341	.	406	Q9Y5E3	PCDB6_HUMAN	T	270;406;191	ENSP00000438466:A270T;ENSP00000231136:A406T	ENSP00000231136:A406T	A	+	1	0	PCDHB6	140511238	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.879000	0.00716	-0.570000	0.06022	0.561000	0.74099	GCG		0.483	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		15	161	0	0	0	1	0	15	161					A	140531054	G	A	140531054	3	1	138	1	0	0	0	0	1	0	0	0	11546	1087	38	1	1218	1	PCDHB6	5	140531054	Missense_Mutation	SNP	G	TCGA-DJ-A3V7-01A-11D-A23M-08	22024443	140531054	40384206	14	2913											
MDFI	4188	broad.mit.edu	37	chr6	41621214	41621214	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagtgtgccgactgcgacctGccctgcgacctggactgcgg	15	14	0	0			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr6:41621214G>T	ENST00000373050.4	+	4	646	c.459G>T	c.(457-459)ctG>ctT	p.L153L				Q99750	MDFI_HUMAN	MyoD family inhibitor	214					activation of JUN kinase activity (GO:0007257)|cytoplasmic sequestering of transcription factor (GO:0042994)|dorsal/ventral axis specification (GO:0009950)|embryo development (GO:0009790)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			ACTGCGACCTGCCCTGCGACC	0.657																																						ENST00000373050.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8						c.(457-459)ctG>ctT		MyoD family inhibitor							114	100	105					6																	41621214		2203	4300	6503	SO:0001819	synonymous_variant	4188				cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr6:41621214G>T	U78313	CCDS4857.1, CCDS75451.1	6p21	2008-08-29			ENSG00000112559	ENSG00000112559			6967	protein-coding gene	gene with protein product	"inhibitor of MyoD family a"	604971				9250874, 17289077	Standard	NM_005586		Approved	I-mfa	uc003oqq.4	Q99750	OTTHUMG00000014681	ENST00000373050.4:c.459G>T	6.37:g.41621214G>T							p.L153L			Q99750	MDFI_HUMAN	Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)		4	646	+	Ovarian(28;0.0327)|Colorectal(47;0.121)		214						Silent	SNP	ENST00000373050.4	37	c.459G>T																																																																																					0.657	MDFI-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000040519.2	NM_005586		9	158	1	0	0.335167	1	0.335167	9	158					T	41621214	G	T	41621214	2	4	138	1	0	0	0	0	0	0	0	1	9404	1306	46	4		4	MDFI	6	41621214	Silent	SNP	G	TCGA-DJ-A3V7-01A-11D-A23M-08		41621214	129493853	15	2914											
TNRC18	84629	broad.mit.edu	37	chr7	5401259	5401259	+	Frame_Shift_Del	DEL	G	G	-													gccgctcttccctctcttgcGggggggcgacagggcgctcg							TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr7:5401259delG	ENST00000430969.1	-	14	4975	c.4627delC	c.(4627-4629)cgcfs	p.R1543fs	TNRC18_ENST00000399537.4_Frame_Shift_Del_p.R1543fs	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1543							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)		CCTCTCTTGCGGGGGGGCGAC	0.692																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(4627-4629)gcfs		trinucleotide repeat containing 18				32,3150		10,12,1569						3.9	1.0			15	35,6719		7,21,3349	no	frameshift	TNRC18	NM_001080495.2		17,33,4918	A1A1,A1R,RR		0.5182,1.0057,0.6743				67,9869				SO:0001589	frameshift_variant	84629						DNA binding	g.chr7:5401259delG	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.4627delC	7.37:g.5401259delG	ENSP00000395538:p.Arg1543fs					TNRC18_ENST00000430969.1_Frame_Shift_Del_p.R1543fs	p.R1543fs			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	14	4975	-		Ovarian(82;0.142)	1543					A8MX41|Q96JH1|Q96K91	Frame_Shift_Del	DEL	ENST00000430969.1	37	c.4627delC	CCDS47534.1																																																																																				0.692	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				2	4						2	4	---	---	---	---	-	5401259	G	-	5401259	7	5	138	1	0	1	0	1	0	0	0	0	16336	1116	39	0	4347	0	TNRC18	7	5401259	Frame_Shift_Del	DEL	G	TCGA-DJ-A3V7-01A-11D-A23M-08		5401259	153737404	16	2915											
CFTR	1080	broad.mit.edu	37	chr7	117180367	117180367	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccctgggctgtacaaacatgGtatgactctcttggagcaat	10	10	1	1			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr7:117180367G>C	ENST00000003084.6	+	8	1215	c.1083G>C	c.(1081-1083)tgG>tgC	p.W361C	CFTR_ENST00000454343.1_Missense_Mutation_p.W361C	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	361	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	TACAAACATGGTATGACTCTC	0.388									Cystic Fibrosis																													ENST00000003084.6																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	GRCh37	CD941633	CFTR	D		c.(1081-1083)tgG>tgC		cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	Bumetanide(DB00887)|Glibenclamide(DB01016)						103	99	100					7																	117180367		2203	4300	6503	SO:0001583	missense	1080	Cystic Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117180367G>C	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators", "ATP binding cassette transporters / subfamily C"	1884	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family C, member 7"	602421	"cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.1083G>C	7.37:g.117180367G>C	ENSP00000003084:p.Trp361Cys					CFTR_ENST00000454343.1_Missense_Mutation_p.W361C	p.W361C	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		8	1215	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		361			ABC transmembrane type-1 1.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.1083G>C	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139916	0.77775	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.91686	-2.89;-2.89;-2.89	5.26	5.26	0.73747	ABC transporter, transmembrane domain, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.93969	0.8069	L	0.35414	1.06	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94493	0.7703	10	0.62326	D	0.03	-8.749	19.2222	0.93801	0.0:0.0:1.0:0.0	.	361	P13569	CFTR_HUMAN	C	361;361;331	ENSP00000003084:W361C;ENSP00000403677:W361C;ENSP00000389119:W331C	ENSP00000003084:W361C	W	+	3	0	CFTR	116967603	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.328000	0.96403	2.600000	0.87896	0.563000	0.77884	TGG		0.388	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		6	127	0	0	0	1	0	6	127					C	117180367	G	C	117180367	3	2	138	1	0	0	0	0	1	0	0	0	3294	1270	44	4	1113	4	CFTR	7	117180367	Missense_Mutation	SNP	G	TCGA-DJ-A3V7-01A-11D-A23M-08	111779108	117180367	41958296	17	2916											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		48	72	0	0	0	1	0	48	72					T	140453136	A	T	140453136	3	4	138	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3V7-01A-11D-A23M-08	23272769	140453136	18685527	18	2917											
DLGAP2	9228	broad.mit.edu	37	chr8	1497669	1497669	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aagagcaacaacgacgtcaaGtgctcggcctgtgaggggtt	14	9	1	2			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr8:1497669G>C	ENST00000421627.2	+	2	944	c.810G>C	c.(808-810)aaG>aaC	p.K270N		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	349					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ACGACGTCAAGTGCTCGGCCT	0.672																																						ENST00000421627.2																			0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(808-810)aaG>aaC		discs, large (Drosophila) homolog-associated protein 2							40	46	44					8																	1497669		2150	4268	6418	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1497669G>C	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"discs, large (Drosophila) homolog-associated protein 2"			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.810G>C	8.37:g.1497669G>C	ENSP00000400258:p.Lys270Asn						p.K270N	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	2	944	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	349					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.810G>C	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.38|13.38	2.220408|2.220408	0.39201|0.39201	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	T|.	0.18502|.	2.21|.	5.3|5.3	3.14|3.14	0.36123|0.36123	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76737|0.76737	0.4029|0.4029	M|M	0.88031|0.88031	2.925|2.925	0.35686|0.35686	D|D	0.814454|0.814454	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.997|.	T|T	0.82768|0.82768	-0.0294|-0.0294	10|5	0.87932|.	D|.	0|.	-18.4374|-18.4374	11.2755|11.2755	0.49163|0.49163	0.3078:0.0:0.6922:0.0|0.3078:0.0:0.6922:0.0	.|.	349;349|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	N|T	315;270|287	ENSP00000400258:K270N|.	ENSP00000348366:K315N|.	K|S	+|+	3|2	2|0	DLGAP2|DLGAP2	1485076|1485076	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.379000|0.379000	0.30106|0.30106	1.291000|1.291000	0.33330|0.33330	0.618000|0.618000	0.30179|0.30179	-0.797000|-0.797000	0.03246|0.03246	AAG|AGT		0.672	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		5	102	0	0	0	1	0	5	102					C	1497669	G	C	1497669	3	2	138	1	0	0	0	0	1	0	0	0	4560	1020	36	4	812	4	DLGAP2	8	1497669	Missense_Mutation	SNP	G	TCGA-DJ-A3V7-01A-11D-A23M-08		1497669	144866353	19	2918											
BRF2	25960	broad.mit.edu	37	chr8	37702487	37702487	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaggcgggaggacgccgGgtagggcaggtccacatttg	18	10	0	0			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr8:37702487G>A	ENST00000412232.2	+	0	5651				BRF2_ENST00000220659.6_Missense_Mutation_p.P261S|BRF2_ENST00000520601.1_3'UTR	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124						central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GAGGACGCCGGGTAGGGCAGG	0.587																																						ENST00000220659.6																			0				breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12						c.(781-783)Ccg>Tcg		BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit							33	32	32					8																	37702487		2203	4300	6503	SO:0001628	intergenic_variant	55290				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding	g.chr8:37702487G>A	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17849	protein-coding gene	gene with protein product	"tumor endothelial marker 5"	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182		8.37:g.37702487G>A						BRF2_ENST00000520601.1_3'UTR	p.P261S	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)		4	901	-		Lung NSC(58;0.118)|all_lung(54;0.195)	261					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.781C>T	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	G	18.81	3.704115	0.68615	.	.	ENSG00000104221	ENST00000220659;ENST00000545765	.	.	.	5.64	5.64	0.86602	.	0.110120	0.64402	D	0.000006	T	0.60599	0.2281	M	0.65498	2.005	0.80722	D	1	P	0.46621	0.881	P	0.45138	0.471	T	0.57596	-0.7784	9	0.10636	T	0.68	.	19.3136	0.94202	0.0:0.0:1.0:0.0	.	261	Q9HAW0	BRF2_HUMAN	S	261;238	.	ENSP00000220659:P261S	P	-	1	0	BRF2	37821645	1.000000	0.71417	0.995000	0.50966	0.646000	0.38490	4.854000	0.62918	2.659000	0.90383	0.655000	0.94253	CCG		0.587	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			5	52	0	0	0	1	0	5	52					A	37702487	G	A	37702487	1	1	138	0	1	0	0	0	0	0	0	0	1511	1232	43	2		2	BRF2	8	37702487	IGR	SNP	G	TCGA-DJ-A3V7-01A-11D-A23M-08	36204818	37702487	108661535	20	2919											
HSD17B3	3293	broad.mit.edu	37	chr9	99017173	99017173	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctgtggcaatggcctctAgtttttccagcgtccggcta	10	12	2	0			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr9:99017173A>G	ENST00000375263.3	-	3	301	c.254T>C	c.(253-255)cTa>cCa	p.L85P	RNU6-1160P_ENST00000384546.1_RNA|HSD17B3_ENST00000375262.2_Missense_Mutation_p.L85P	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	85					androgen biosynthetic process (GO:0006702)|male genitalia development (GO:0030539)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)				AATGGCCTCTAGTTTTTCCAG	0.512																																						ENST00000375263.3																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(253-255)cTa>cCa		hydroxysteroid (17-beta) dehydrogenase 3	NADH(DB00157)						123	91	102					9																	99017173		2203	4300	6503	SO:0001583	missense	3293				androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity	g.chr9:99017173A>G		CCDS6716.1	9q22	2011-09-20			ENSG00000130948	ENSG00000130948	1.1.1.62	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5212	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 12C, member 2"	605573				8075637, 19027726	Standard	NM_000197		Approved	SDR12C2	uc004awa.1	P37058	OTTHUMG00000020292	ENST00000375263.3:c.254T>C	9.37:g.99017173A>G	ENSP00000364412:p.Leu85Pro					HSD17B3_ENST00000375262.2_Missense_Mutation_p.L85P	p.L85P	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN			3	301	-		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)	85					Q5U0Q6	Missense_Mutation	SNP	ENST00000375263.3	37	c.254T>C	CCDS6716.1	.	.	.	.	.	.	.	.	.	.	A	12.86	2.065518	0.36470	.	.	ENSG00000130948	ENST00000375263;ENST00000375262	D;D	0.94931	-3.56;-2.38	4.79	4.79	0.61399	NAD(P)-binding domain (1);	0.184069	0.38005	N	0.001842	D	0.98033	0.9352	H	0.97540	4.025	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.81914	0.974;0.995	D	0.98463	1.0597	10	0.72032	D	0.01	-17.9462	10.9088	0.47097	1.0:0.0:0.0:0.0	.	85;85	Q5U0Q6;P37058	.;DHB3_HUMAN	P	85	ENSP00000364412:L85P;ENSP00000364411:L85P	ENSP00000364411:L85P	L	-	2	0	HSD17B3	98056994	1.000000	0.71417	0.819000	0.32651	0.085000	0.17905	5.435000	0.66532	2.147000	0.66899	0.533000	0.62120	CTA		0.512	HSD17B3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053259.1	NM_000197		16	26	0	0	0	1	0	16	26					G	99017173	A	G	99017173	3	3	138	1	0	0	0	0	1	0	0	0	7385	420	15	3	714	3	HSD17B3	9	99017173	Missense_Mutation	SNP	A	TCGA-DJ-A3V7-01A-11D-A23M-08		99017173	42196258	21	2920											
CPT1A	1374	broad.mit.edu	37	chr11	68542876	68542876	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctccgcatagcccagctGgaggctgtcaatggacatga	11	12	1	1			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr11:68542876G>A	ENST00000265641.5	-	13	1637	c.1483C>T	c.(1483-1485)Cag>Tag	p.Q495*	CPT1A_ENST00000540367.1_Nonsense_Mutation_p.Q495*|CPT1A_ENST00000376618.2_Nonsense_Mutation_p.Q495*|CPT1A_ENST00000539743.1_Nonsense_Mutation_p.Q495*|CPT1A_ENST00000537756.2_5'Flank	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	495					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	TAGCCCAGCTGGAGGCTGTCA	0.483																																						ENST00000265641.5																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1483-1485)Cag>Tag		carnitine palmitoyltransferase 1A (liver)	L-Carnitine(DB00583)|Perhexiline(DB01074)						128	113	118					11																	68542876		2200	4294	6494	SO:0001587	stop_gained	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68542876G>A	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.1483C>T	11.37:g.68542876G>A	ENSP00000265641:p.Gln495*					CPT1A_ENST00000540367.1_Nonsense_Mutation_p.Q495*|CPT1A_ENST00000539743.1_Nonsense_Mutation_p.Q495*|CPT1A_ENST00000376618.2_Nonsense_Mutation_p.Q495*	p.Q495*	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		13	1637	-	Esophageal squamous(3;3.28e-14)		495					Q8TCU0|Q9BWK0	Nonsense_Mutation	SNP	ENST00000265641.5	37	c.1483C>T	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660375	0.88154	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	.	.	.	5.12	4.14	0.48551	.	0.252005	0.40469	N	0.001095	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	12.999	0.58664	0.0:0.3499:0.6501:0.0	.	.	.	.	X	495	.	ENSP00000265641:Q495X	Q	-	1	0	CPT1A	68299452	0.948000	0.32251	0.989000	0.46669	0.362000	0.29581	2.300000	0.43620	2.550000	0.86006	0.478000	0.44815	CAG		0.483	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		51	84	0	0	0	1	0	51	84					A	68542876	G	A	68542876	4	1	138	1	0	0	0	0	0	1	0	0	3831	1357	47	2	906	2	CPT1A	11	68542876	Nonsense_Mutation	SNP	G	TCGA-DJ-A3V7-01A-11D-A23M-08		68542876	66463640	22	2921											
RB1	5925	broad.mit.edu	37	chr13	49039407	49039407	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtttcctagttcacccttaCggattcctggagggaacatc	9	11	1	0	rs187912365	byFrequency	TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr13:49039407C>T	ENST00000267163.4	+	23	2530	c.2392C>T	c.(2392-2394)Cgg>Tgg	p.R798W		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	798	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|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 during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)|p.R798fs*17(1)|p.R798W(1)|p.L797fs*1(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TTCACCCTTACGGATTCCTGG	0.408		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			C|||	4	0.000798722	0	0.0043	5008	,	,		14619	0		0.001	False		,,,				2504	0					ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"D, Mis, N, F, S"	retinoblastoma gene			"L, E, M, O"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"		29	Whole gene deletion(15)|Unknown(11)|Substitution - Missense(1)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	p.0?(15)|p.?(11)|p.R798fs*17(1)|p.R798W(1)|p.L797fs*1(1)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|eye(2)|ovary(2)|adrenal_gland(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(2392-2394)Cgg>Tgg		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	128	130	129		2392	4.1	1.0	13		129	0,8600		0,0,4300	yes	missense	RB1	NM_000321.2	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	798/929	49039407	1,13005	2203	4300	6503	SO:0001583	missense	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49039407C>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2392C>T	13.37:g.49039407C>T	ENSP00000267163:p.Arg798Trp	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.R798W	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	23	2530	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	798			Domain C; mediates interaction with E4F1.|Interaction with LIMD1.		A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	c.2392C>T	CCDS31973.1	3	0.0013736263736263737	0	0.0	3	0.008287292817679558	0	0.0	0	0.0	C	21.0	4.075938	0.76415	2.27E-4	0.0	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.85955	-2.05	5.87	4.1	0.47936	Rb C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87144	0.6104	L	0.54323	1.7	0.52501	D	0.999954	D	0.89917	1.0	D	0.91635	0.999	D	0.88501	0.3082	10	0.87932	D	0	.	13.9886	0.64350	0.3981:0.6019:0.0:0.0	.	798	P06400	RB_HUMAN	W	777;798	ENSP00000267163:R798W	ENSP00000267163:R798W	R	+	1	2	RB1	47937408	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	4.350000	0.59392	0.780000	0.33566	0.591000	0.81541	CGG		0.408	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			24	161	0	0	0	1	0	24	161					T	49039407	C	T	49039407	3	4	138	1	0	0	0	0	1	0	0	0	13098	527	19	1	2482	1	RB1	13	49039407	Missense_Mutation	SNP	C	TCGA-DJ-A3V7-01A-11D-A23M-08		49039407	66130471	23	2922											
ZG16B	124220	broad.mit.edu	37	chr16	2880459	2880459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccatgctgctgctgctcaCgcttgccctcctggggggcc	14	16	1	0			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr16:2880459C>T	ENST00000382280.3	+	2	204	c.125C>T	c.(124-126)aCg>aTg	p.T42M	ZG16B_ENST00000572863.1_Missense_Mutation_p.T12M	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	42	Poly-Leu.				retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						CTGCTGCTCACGCTTGCCCTC	0.662																																						ENST00000382280.3																			0				central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						c.(124-126)aCg>aTg		zymogen granule protein 16B							20	25	23					16																	2880459		2073	4213	6286	SO:0001583	missense	124220					extracellular region	sugar binding	g.chr16:2880459C>T	BC009722	CCDS10479.2	16p13.3	2014-02-12	2012-12-07		ENSG00000162078	ENSG00000162078			30456	protein-coding gene	gene with protein product	"jacalin-like lectin domain containing 2"		"zymogen granule protein 16 homolog B (rat)"			12477932	Standard	NM_145252		Approved	HRPE773, PRO1567, JCLN2	uc002cru.3	Q96DA0	OTTHUMG00000128933	ENST00000382280.3:c.125C>T	16.37:g.2880459C>T	ENSP00000371715:p.Thr42Met					ZG16B_ENST00000572863.1_Missense_Mutation_p.T12M	p.T42M	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN			2	204	+			42			Poly-Leu.		A6NIY1|B2R4F6|Q6UW28	Missense_Mutation	SNP	ENST00000382280.3	37	c.125C>T	CCDS10479.2	.	.	.	.	.	.	.	.	.	.	c	14.77	2.634807	0.47049	.	.	ENSG00000162078	ENST00000382280	T	0.35605	1.3	3.11	2.15	0.27550	.	.	.	.	.	T	0.45617	0.1351	L	0.43923	1.385	0.21473	N	0.999671	D	0.89917	1.0	D	0.71870	0.975	T	0.15896	-1.0421	9	0.56958	D	0.05	-25.0543	5.9001	0.18962	0.0:0.856:0.0:0.144	.	42	Q96DA0	ZG16B_HUMAN	M	42	ENSP00000371715:T42M	ENSP00000371715:T42M	T	+	2	0	ZG16B	2820460	0.000000	0.05858	0.781000	0.31783	0.089000	0.18198	0.312000	0.19397	0.880000	0.35969	0.556000	0.70494	ACG		0.662	ZG16B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250912.1	NM_145252		7	5	0	0	0	1	0	7	5					T	2880459	C	T	2880459	3	4	138	1	0	0	0	0	1	0	0	0	17669	536	19	1	131	1	ZG16B	16	2880459	Missense_Mutation	SNP	C	TCGA-DJ-A3V7-01A-11D-A23M-08		2880459	87474294	24	2923											
MYH1	4619	broad.mit.edu	37	chr17	10419832	10419832	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttcacaaaggactccttaGggtccaccacaaagactgat	7	12	1	2			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr17:10419832G>T	ENST00000226207.5	-	3	222	c.128C>A	c.(127-129)cCt>cAt	p.P43H	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	43					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						GGACTCCTTAGGGTCCACCAC	0.517																																						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.(127-129)cCt>cAt		myosin, heavy chain 1, skeletal muscle, adult							177	166	170					17																	10419832		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10419832G>T		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.128C>A	17.37:g.10419832G>T	ENSP00000226207:p.Pro43His					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.P43H	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			3	222	-			43			Myosin head-like.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.128C>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.261924	0.39995	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	D	0.83506	-1.73	5.5	4.53	0.55603	Myosin, N-terminal, SH3-like (1);	0.804783	0.10409	U	0.678108	D	0.91788	0.7402	M	0.85945	2.785	0.09310	N	1	B	0.25206	0.12	P	0.49140	0.601	D	0.85403	0.1132	10	0.56958	D	0.05	.	15.9411	0.79754	0.0:0.0:0.8642:0.1358	.	43	P12882	MYH1_HUMAN	H	43	ENSP00000226207:P43H	ENSP00000226207:P43H	P	-	2	0	MYH1	10360557	0.990000	0.36364	0.028000	0.17463	0.277000	0.26821	6.541000	0.73865	1.546000	0.49388	0.655000	0.94253	CCT		0.517	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		10	274	1	0	2.17888e-05	1	2.42097e-05	10	274					T	10419832	G	T	10419832	3	4	138	1	0	0	0	0	1	0	0	0	10029	1000	35	4	5843	4	MYH1	17	10419832	Missense_Mutation	SNP	G	TCGA-DJ-A3V7-01A-11D-A23M-08		10419832	70775378	25	2924											
HSD17B1	3292	broad.mit.edu	37	chr17	40704977	40704977	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccgcaccgtggtgctcatcaCcggctgttcctcgggcatcg	12	16	2	0			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr17:40704977C>G	ENST00000585807.1	+	1	3746	c.26C>G	c.(25-27)aCc>aGc	p.T9S	RP11-400F19.6_ENST00000590513.1_RNA|RP11-400F19.8_ENST00000585572.1_RNA|HSD17B1_ENST00000225929.5_Missense_Mutation_p.T9S	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	9					bone development (GO:0060348)|cellular response to metal ion (GO:0071248)|estrogen biosynthetic process (GO:0006703)|estrogen metabolic process (GO:0008210)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|estradiol 17-beta-dehydrogenase activity (GO:0004303)			NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Equilin(DB02187)	GTGCTCATCACCGGCTGTTCC	0.647																																						ENST00000585807.1																			0				NS(1)|endometrium(1)|kidney(1)|lung(2)	5						c.(25-27)aCc>aGc		hydroxysteroid (17-beta) dehydrogenase 1	NADH(DB00157)						51	48	49					17																	40704977		2203	4300	6503	SO:0001583	missense	3292				estrogen biosynthetic process	cytosol	binding|estradiol 17-beta-dehydrogenase activity	g.chr17:40704977C>G		CCDS11428.1	17q11-q21	2011-09-14					1.1.1.62	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5210	protein-coding gene	gene with protein product	"Estradiol 17-beta-dehydrogenase-1", "short chain dehydrogenase/reductase family 28CE, member 1"	109684		EDHB17, EDH17B2		2330005, 19027726	Standard	NM_000413		Approved	HSD17, MGC138140, SDR28C1	uc002hzw.3	P14061		ENST00000585807.1:c.26C>G	17.37:g.40704977C>G	ENSP00000466799:p.Thr9Ser					HSD17B1_ENST00000225929.5_Missense_Mutation_p.T9S|RP11-400F19.6_ENST00000590513.1_RNA|RP11-400F19.8_ENST00000585572.1_RNA	p.T9S	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	1	3746	+		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)	9					B3KXS1|Q2M2L8	Missense_Mutation	SNP	ENST00000585807.1	37	c.26C>G	CCDS11428.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473390	0.63737	.	.	ENSG00000108786	ENST00000225929;ENST00000225928	D	0.97710	-4.5	4.15	4.15	0.48705	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98432	0.9478	M	0.81942	2.565	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;0.99	D;D;D	0.87578	0.997;0.998;0.983	D	0.98325	1.0530	10	0.44086	T	0.13	.	13.3376	0.60526	0.0:1.0:0.0:0.0	.	9;9;9	B3RFR9;B4DTD0;P14061	.;.;DHB1_HUMAN	S	9	ENSP00000225929:T9S	ENSP00000225928:T9S	T	+	2	0	HSD17B1	37958503	0.998000	0.40836	0.989000	0.46669	0.570000	0.35934	4.241000	0.58707	2.164000	0.68074	0.586000	0.80456	ACC		0.647	HSD17B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450392.1	NM_000413		4	61	0	0	0	1	0	4	61					G	40704977	C	G	40704977	3	3	138	1	0	0	0	0	1	0	0	0	7378	507	18	4	28	4	HSD17B1	17	40704977	Missense_Mutation	SNP	C	TCGA-DJ-A3V7-01A-11D-A23M-08	30285145	40704977	40490233	26	2925											
TRIM47	91107	broad.mit.edu	37	chr17	73870808	73870808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacagcatagaaggccaagGcacggtcagcgtattccagg	13	10	1	1			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr17:73870808G>A	ENST00000254816.2	-	6	1699	c.1673C>T	c.(1672-1674)gCc>gTc	p.A558V	RP11-552F3.9_ENST00000586076.1_RNA|TRIM47_ENST00000587339.1_Missense_Mutation_p.A320V	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	558	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GAAGGCCAAGGCACGGTCAGC	0.667																																						ENST00000254816.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1672-1674)gCc>gTc		tripartite motif containing 47							35	42	40					17																	73870808		2203	4300	6503	SO:0001583	missense	91107					cytoplasm|nucleus	zinc ion binding	g.chr17:73870808G>A	AY026763	CCDS32737.1	17q25	2013-01-09	2011-01-25			ENSG00000132481		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19020	protein-coding gene	gene with protein product		611041	"tripartite motif-containing 47"				Standard	NM_033452		Approved	GOA, RNF100	uc002jpw.3	Q96LD4		ENST00000254816.2:c.1673C>T	17.37:g.73870808G>A	ENSP00000254816:p.Ala558Val					TRIM47_ENST00000587339.1_Missense_Mutation_p.A320V	p.A558V	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)		6	1699	-			558			B30.2/SPRY.		Q96AD0|Q96GU5|Q9BRN7	Missense_Mutation	SNP	ENST00000254816.2	37	c.1673C>T	CCDS32737.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.647054	0.29246	.	.	ENSG00000132481	ENST00000254816	T	0.68903	-0.36	5.18	5.18	0.71444	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000009	T	0.36771	0.0979	N	0.01729	-0.75	0.20873	N	0.999835	B	0.25850	0.136	B	0.27608	0.081	T	0.13791	-1.0496	10	0.02654	T	1	.	14.3104	0.66413	0.0:0.1484:0.8516:0.0	.	558	Q96LD4	TRI47_HUMAN	V	558	ENSP00000254816:A558V	ENSP00000254816:A558V	A	-	2	0	TRIM47	71382403	0.256000	0.24012	0.996000	0.52242	0.092000	0.18411	3.069000	0.50026	2.426000	0.82243	0.561000	0.74099	GCC		0.667	TRIM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448934.1			33	56	0	0	0	1	0	33	56					A	73870808	G	A	73870808	3	1	138	1	0	0	0	0	1	0	0	0	16519	1203	42	2	247	2	TRIM47	17	73870808	Missense_Mutation	SNP	G	TCGA-DJ-A3V7-01A-11D-A23M-08	33165831	73870808	7324402	27	2926											
C17orf56	146705	broad.mit.edu	37	chr17	79207838	79207838	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgcagaggatctgggggCcctgcaaaagctgcagaaca	14	11	1	2			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr17:79207838C>G	ENST00000300714.3	-	5	375	c.318G>C	c.(316-318)ggG>ggC	p.G106G	AC027601.1_ENST00000569559.1_RNA|AC027601.1_ENST00000575922.1_RNA|ENTHD2_ENST00000374769.2_5'UTR	NM_144679.2	NP_653280.1	Q96N21	AP4AT_HUMAN	ENTH domain containing 2	106	ENTH.					cytoplasmic vesicle (GO:0031410)											GATCTGGGGGCCCTGCAAAAG	0.677																																						ENST00000300714.3																			0											c.(316-318)ggG>ggC		ENTH domain containing 2							22	24	23					17																	79207838		2202	4300	6502	SO:0001819	synonymous_variant	146705							g.chr17:79207838C>G	AK056090	CCDS11779.1	17q25.3	2012-07-18	2012-07-18	2012-07-18	ENSG00000167302	ENSG00000167302			26458	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 56"	C17orf56			Standard	NM_144679		Approved	FLJ31528	uc002jzu.2	Q96N21	OTTHUMG00000177866	ENST00000300714.3:c.318G>C	17.37:g.79207838C>G						ENTHD2_ENST00000374769.2_5'UTR	p.G106G	NM_144679.2	NP_653280.1					5	375	-								Q6ZQU0|Q6ZSQ9	Silent	SNP	ENST00000300714.3	37	c.318G>C	CCDS11779.1																																																																																				0.677	ENTHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439315.1	NM_144679		3	21	0	0	0	1	0	3	21					G	79207838	C	G	79207838	2	3	138	1	0	0	0	0	0	0	0	1	1864	726	26	4		4	C17orf56	17	79207838	Silent	SNP	C	TCGA-DJ-A3V7-01A-11D-A23M-08	5337030	79207838	1987372	28	2927											
FBN3	84467	broad.mit.edu	37	chr19	8131054	8131054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaccctccagggccggccGgagctccaggatgcgctcgg	15	15	0	1	rs199602063		TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr19:8131054G>A	ENST00000600128.1	-	64	8593	c.8179C>T	c.(8179-8181)Cgg>Tgg	p.R2727W	FBN3_ENST00000601739.1_Missense_Mutation_p.R2727W|FBN3_ENST00000270509.2_Missense_Mutation_p.R2727W			Q75N90	FBN3_HUMAN	fibrillin 3	2727						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGGGCCGGCCGGAGCTCCAGG	0.652																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(8179-8181)Cgg>Tgg		fibrillin 3		G	TRP/ARG	0,4396		0,0,2198	24	24	24		8179	-1.7	0.0	19		24	1,8591		0,1,4295	no	missense	FBN3	NM_032447.3	101	0,1,6493	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	2727/2810	8131054	1,12987	2198	4296	6494	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8131054G>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.8179C>T	19.37:g.8131054G>A	ENSP00000470498:p.Arg2727Trp					FBN3_ENST00000270509.2_Missense_Mutation_p.R2727W|FBN3_ENST00000601739.1_Missense_Mutation_p.R2727W	p.R2727W			Q75N90	FBN3_HUMAN			64	8593	-			2727					Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.8179C>T	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198601	0.38806	0.0	1.16E-4	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.87334	-2.24	4.66	-1.68	0.08212	.	0.414440	0.21774	U	0.069319	T	0.78432	0.4282	L	0.50333	1.59	0.21933	N	0.99947	B;B	0.21688	0.059;0.008	B;B	0.11329	0.006;0.002	T	0.66069	-0.6015	10	0.56958	D	0.05	.	4.7777	0.13187	0.2182:0.0:0.5245:0.2573	.	2727;790	Q75N90;Q6ZNB8	FBN3_HUMAN;.	W	2727;790	ENSP00000270509:R2727W	ENSP00000270509:R2727W	R	-	1	2	FBN3	8037054	0.023000	0.18921	0.000000	0.03702	0.000000	0.00434	1.193000	0.32162	-0.369000	0.08028	-1.057000	0.02308	CGG		0.652	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		7	45	0	0	0	1	0	7	45					A	8131054	G	A	8131054	3	1	138	1	0	0	0	0	1	0	0	0	5704	1115	39	1	254	1	FBN3	19	8131054	Missense_Mutation	SNP	G	TCGA-DJ-A3V7-01A-11D-A23M-08		8131054	50997929	29	2928											
MUC16	94025	broad.mit.edu	37	chr19	9090068	9090068	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgtgtctgcagatgtttcttCaagccaaatcccttttgtgg	9	9	3	1			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr19:9090068C>G	ENST00000397910.4	-	1	1950	c.1747G>C	c.(1747-1749)Gaa>Caa	p.E583Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	583	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATGTTTCTTCAAGCCAAATC	0.532																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(1747-1749)Gaa>Caa		mucin 16, cell surface associated							50	50	50					19																	9090068		2085	4229	6314	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090068C>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1747G>C	19.37:g.9090068C>G	ENSP00000381008:p.Glu583Gln						p.E583Q	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	1950	-			583			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.1747G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	1.559	-0.537224	0.04082	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	1.57	-3.13	0.05266	.	.	.	.	.	T	0.01558	0.0050	N	0.08118	0	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.44034	-0.9354	8	0.87932	D	0	.	4.5872	0.12287	0.0:0.3364:0.4006:0.263	.	583	B5ME49	.	Q	583	ENSP00000381008:E583Q	ENSP00000381008:E583Q	E	-	1	0	MUC16	8951068	0.000000	0.05858	0.000000	0.03702	0.293000	0.27360	-3.367000	0.00495	-2.027000	0.00932	-1.021000	0.02439	GAA		0.532	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	58	0	0	0	1	0	4	58					G	9090068	C	G	9090068	3	3	138	1	0	0	0	0	1	0	0	0	9973	835	29	4	42112	4	MUC16	19	9090068	Missense_Mutation	SNP	C	TCGA-DJ-A3V7-01A-11D-A23M-08	959014	9090068	50038915	30	2929											
C19orf52	90580	broad.mit.edu	37	chr19	11040151	11040151	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgcgcgactgcgacatcaacGacgacgaattcctgcacctg	10	14	1	0			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr19:11040151G>T	ENST00000270502.6	+	2	646	c.556G>T	c.(556-558)Gac>Tac	p.D186Y	YIPF2_ENST00000586748.1_5'Flank|YIPF2_ENST00000590329.1_5'Flank|YIPF2_ENST00000253031.2_5'Flank	NM_138358.2	NP_612367.1	Q9BSF4	CS052_HUMAN	chromosome 19 open reading frame 52	186										prostate(1)	1						CGACATCAACGACGACGAATT	0.672																																						ENST00000270502.6																			0				prostate(1)	1						c.(556-558)Gac>Tac		chromosome 19 open reading frame 52							29	33	32					19																	11040151		2202	4299	6501	SO:0001583	missense	90580							g.chr19:11040151G>T	BC011833	CCDS12252.1	19p13.2	2011-11-24			ENSG00000142444	ENSG00000142444			25152	protein-coding gene	gene with protein product						12477932	Standard	NM_138358		Approved		uc002mqd.2	Q9BSF4		ENST00000270502.6:c.556G>T	19.37:g.11040151G>T	ENSP00000270502:p.Asp186Tyr						p.D186Y	NM_138358.2	NP_612367.1	Q9BSF4	CS052_HUMAN			2	646	+			186					Q96EY6|Q96IT8	Missense_Mutation	SNP	ENST00000270502.6	37	c.556G>T	CCDS12252.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943280	0.53079	.	.	ENSG00000142444	ENST00000270502	.	.	.	4.55	3.48	0.39840	.	0.059683	0.64402	D	0.000004	T	0.52693	0.1750	L	0.50333	1.59	0.47698	D	0.999496	P	0.40211	0.707	B	0.39339	0.297	T	0.59653	-0.7414	9	0.66056	D	0.02	-22.8904	13.6831	0.62499	0.0:0.1564:0.8436:0.0	.	186	Q9BSF4	CS052_HUMAN	Y	186	.	ENSP00000270502:D186Y	D	+	1	0	C19orf52	10901151	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	4.971000	0.63749	1.225000	0.43566	0.655000	0.94253	GAC		0.672	C19orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452635.1	NM_138358		6	78	1	0	0.00116845	1	0.00120874	6	78					T	11040151	G	T	11040151	3	4	138	1	0	0	0	0	1	0	0	0	1934	1058	37	4	562	4	C19orf52	19	11040151	Missense_Mutation	SNP	G	TCGA-DJ-A3V7-01A-11D-A23M-08	1950083	11040151	48088832	31	2930											
SMARCA4	6597	broad.mit.edu	37	chr19	11143966	11143966	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	actggcacctcttcccccagGacctgcaagcgcaggaccga	10	17	1	0			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr19:11143966G>C	ENST00000429416.3	+	27	3828	c.3547G>C	c.(3547-3549)Gac>Cac	p.D1183H	SMARCA4_ENST00000541122.2_Splice_Site_p.D1183H|SMARCA4_ENST00000344626.4_Splice_Site_p.D1183H|SMARCA4_ENST00000589677.1_Splice_Site_p.D1183H|SMARCA4_ENST00000444061.3_Splice_Site_p.D1183H|SMARCA4_ENST00000358026.2_Splice_Site_p.D1183H|SMARCA4_ENST00000413806.3_Splice_Site_p.D1183H|SMARCA4_ENST00000590574.1_Splice_Site_p.D1183H|SMARCA4_ENST00000450717.3_Splice_Site_p.D1183H	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1183	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|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 transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTTCCCCCAGGACCTGCAAGC	0.627			"F, N, Mis"		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"F, N, Mis"	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.e26-1		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							41	42	42					19																	11143966		2203	4298	6501	SO:0001630	splice_region_variant	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11143966G>C	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3547-1G>C	19.37:g.11143966G>C						SMARCA4_ENST00000344626.4_Splice_Site_p.D1183_splice|SMARCA4_ENST00000589677.1_Splice_Site_p.D1183_splice|SMARCA4_ENST00000444061.3_Splice_Site_p.D1183_splice|SMARCA4_ENST00000590574.1_Splice_Site_p.D1183_splice|SMARCA4_ENST00000413806.3_Splice_Site_p.D1183_splice|SMARCA4_ENST00000429416.3_Splice_Site_p.D1183_splice|SMARCA4_ENST00000450717.3_Splice_Site_p.D1183_splice|SMARCA4_ENST00000541122.2_Splice_Site_p.D1183_splice	p.D1183_splice	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			26	3831	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1183			Helicase C-terminal.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Splice_Site	SNP	ENST00000429416.3	37	c.3546_splice	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.915293	0.73098	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94	4.74	4.74	0.60224	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.91686	0.7372	H	0.98525	4.255	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999;1.0;1.0	D	0.94847	0.8010	9	.	.	.	-56.3457	16.7067	0.85374	0.0:0.0:1.0:0.0	.	1183;1183;1183;1183;1183;403;1183	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	H	1183;1183;1247;1183;1183;1183;1183;1183	ENSP00000395654:D1183H;ENSP00000350720:D1183H;ENSP00000343896:D1183H;ENSP00000445036:D1183H;ENSP00000392837:D1183H;ENSP00000397783:D1183H;ENSP00000414727:D1183H	.	D	+	1	0	SMARCA4	11004966	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	9.319000	0.96338	2.488000	0.83962	0.558000	0.71614	GAC		0.627	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072	Missense_Mutation	4	65	0	0	0	1	0	4	65					C	11143966	G	C	11143966	5	2	138	1	0	0	0	0	0	0	1	0	14770	1188	41	4	3645	4	SMARCA4	19	11143966	Splice_Site	SNP	G	TCGA-DJ-A3V7-01A-11D-A23M-08	103815	11143966	47985017	32	2931											
KANK2	25959	broad.mit.edu	37	chr19	11287442	11287442	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcgttctctgtgctgtcGttgtctgagatgttctctgc	11	11	3	1	rs552559422		TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr19:11287442G>A	ENST00000586659.1	-	7	1886	c.1572C>T	c.(1570-1572)aaC>aaT	p.N524N	KANK2_ENST00000589359.1_Silent_p.N532N|KANK2_ENST00000589894.1_Silent_p.N524N|KANK2_ENST00000355150.5_Silent_p.N524N|KANK2_ENST00000432929.2_Silent_p.N532N			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	524					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTGTGCTGTCGTTGTCTGAGA	0.637													G|||	1	0.000199681	0	0	5008	,	,		17714	0		0	False		,,,				2504	0.001					ENST00000432929.2																			0				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1594-1596)aaC>aaT		KN motif and ankyrin repeat domains 2							102	89	94					19																	11287442		2203	4300	6503	SO:0001819	synonymous_variant	25959							g.chr19:11287442G>A	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	29300	protein-coding gene	gene with protein product		614610	"matrix-remodelling associated 3", "ankyrin repeat domain 25"	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.1572C>T	19.37:g.11287442G>A						KANK2_ENST00000355150.5_Silent_p.N524N|KANK2_ENST00000586659.1_Silent_p.N524N|KANK2_ENST00000589359.1_Silent_p.N532N|KANK2_ENST00000589894.1_Silent_p.N524N	p.N532N	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN			7	1956	-			524					B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Silent	SNP	ENST00000586659.1	37	c.1596C>T	CCDS12255.1																																																																																				0.637	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		6	88	0	0	0	1	0	6	88					A	11287442	G	A	11287442	2	1	138	1	0	0	0	0	0	0	0	1	7977	1136	40	1		1	KANK2	19	11287442	Silent	SNP	G	TCGA-DJ-A3V7-01A-11D-A23M-08	143476	11287442	47841541	33	2932											
PEG3	5178	broad.mit.edu	37	chr19	57326078	57326078	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcatcttccctatgaagtctCatatgctcattaagggcaga	7	10	4	2			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr19:57326078C>A	ENST00000326441.9	-	10	4095	c.3732G>T	c.(3730-3732)atG>atT	p.M1244I	ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.M1120I|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.M1244I|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.M1118I|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1244					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TATGAAGTCTCATATGCTCAT	0.498																																						ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(3730-3732)atG>atT		paternally expressed 3							51	46	48					19																	57326078		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57326078C>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3732G>T	19.37:g.57326078C>A	ENSP00000326581:p.Met1244Ile					ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.M1244I|PEG3_ENST00000593695.1_Missense_Mutation_p.M1118I|PEG3_ENST00000598410.1_Missense_Mutation_p.M1120I|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron	p.M1244I	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	4095	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1244					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.3732G>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694189	0.48202	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.28255	1.62;1.62	4.06	1.87	0.25490	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.358389	0.24388	N	0.038942	T	0.32010	0.0815	L	0.46885	1.475	.	.	.	B;P;P	0.49307	0.149;0.856;0.922	B;P;P	0.46718	0.103;0.525;0.525	T	0.51639	-0.8680	9	0.56958	D	0.05	-6.8134	12.3223	0.54991	0.0:0.6501:0.3499:0.0	.	1120;1244;1179	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	I	1244	ENSP00000326581:M1244I;ENSP00000403051:M1244I	ENSP00000326581:M1244I	M	-	3	0	ZIM2	62017890	0.000000	0.05858	0.002000	0.10522	0.887000	0.51463	0.755000	0.26405	0.646000	0.30693	0.655000	0.94253	ATG		0.498	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			11	81	1	0	4.68919e-08	1	5.4106e-08	11	81					A	57326078	C	A	57326078	3	1	138	1	0	0	0	0	1	0	0	0	11720	826	29	4	1038	4	PEG3	19	57326078	Missense_Mutation	SNP	C	TCGA-DJ-A3V7-01A-11D-A23M-08	46038636	57326078	1802905	34	2933											
GCFC1	94104	broad.mit.edu	37	chr21	34123457	34123457	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcccgctctgcaatgcgaCgttttgcatgctcttgatac	8	14	2	1			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr21:34123457C>T	ENST00000331923.4	-	9	1769	c.1580G>A	c.(1579-1581)cGt>cAt	p.R527H	PAXBP1_ENST00000290178.4_Missense_Mutation_p.R527H	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	527	Necessary and sufficient for interaction with PAX7. {ECO:0000250}.				muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TGCAATGCGACGTTTTGCATG	0.463																																						ENST00000331923.4																			0											c.(1579-1581)cGt>cAt		PAX3 and PAX7 binding protein 1							112	94	100					21																	34123457		2203	4300	6503	SO:0001583	missense	94104							g.chr21:34123457C>T	AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 105", "GC-rich sequence DNA-binding factor candidate"		"chromosome 21 open reading frame 66", "GC-rich sequence DNA-binding factor 1"	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.1580G>A	21.37:g.34123457C>T	ENSP00000328992:p.Arg527His					PAXBP1_ENST00000290178.4_Missense_Mutation_p.R527H	p.R527H	NM_016631.3	NP_057715.2					9	1769	-								D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	ENST00000331923.4	37	c.1580G>A	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.629884	0.87660	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	T;T	0.37058	1.65;1.22	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.60130	0.2245	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.72338	0.977;0.948;0.94	T	0.61594	-0.7031	10	0.59425	D	0.04	-11.8073	18.6815	0.91547	0.0:1.0:0.0:0.0	.	527;527;36	Q9Y5B6-2;Q9Y5B6;B3KSC0	.;GCFC1_HUMAN;.	H	527	ENSP00000328992:R527H;ENSP00000290178:R527H	ENSP00000290178:R527H	R	-	2	0	GCFC1	33045328	0.997000	0.39634	1.000000	0.80357	0.969000	0.65631	3.473000	0.53122	2.517000	0.84864	0.557000	0.71058	CGT		0.463	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329		19	67	0	0	0	1	0	19	67					T	34123457	C	T	34123457	3	4	138	1	0	0	0	0	1	0	0	0	6289	536	19	1	1331	1	GCFC1	21	34123457	Missense_Mutation	SNP	C	TCGA-DJ-A3V7-01A-11D-A23M-08		34123457	14006438	35	2934											
F9	2158	broad.mit.edu	37	chrX	138633271	138633271	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacaaacttctaagctcaccCgtgctgagactgtttttcct	6	13	2	1	rs137852237		TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chrX:138633271C>A	ENST00000218099.2	+	6	578	c.571C>A	c.(571-573)Cgt>Agt	p.R191S	F9_ENST00000394090.2_Missense_Mutation_p.R153S	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	191		Cleavage; by factor XIa.	R -> C (in HEMB; moderate; Albuquerque, Cardiff-1, etc.). {ECO:0000269|PubMed:2775660}.|R -> H (in HEMB; moderate; Chapel-Hill, Chicago-2, etc.). {ECO:0000269|PubMed:6603618, ECO:0000269|PubMed:8076946}.		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	TAAGCTCACCCGTGCTGAGAC	0.358																																						ENST00000218099.2																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	GRCh37	CM940536|CM940537	F9	M	rs137852237	c.(571-573)Cgt>Agt		coagulation factor IX	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						109	97	101					X																	138633271		2203	4300	6503	SO:0001583	missense	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138633271C>A	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"Factor IX", "plasma thromboplastic component", "Christmas disease", "hemophilia B"	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.571C>A	X.37:g.138633271C>A	ENSP00000218099:p.Arg191Ser					F9_ENST00000394090.2_Missense_Mutation_p.R153S	p.R191S	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN			6	578	+	Acute lymphoblastic leukemia(192;0.000127)		191		R -> C (in HEMB; moderate; Albuquerque, Cardiff-1, etc.).|R -> H (in HEMB; moderate; Chapel-Hill, Chicago-2, etc.).		Cleavage; by factor XIa.	A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	c.571C>A	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	C	9.875	1.199980	0.22121	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	D;D	0.93426	-3.22;-3.22	4.94	4.04	0.47022	.	0.411574	0.25250	N	0.032021	D	0.93035	0.7783	L	0.39397	1.21	0.36570	D	0.872959	D;P	0.64830	0.994;0.73	P;B	0.62491	0.903;0.107	D	0.91321	0.5082	10	0.22706	T	0.39	.	10.5255	0.44945	0.3505:0.6495:0.0:0.0	.	153;191	Q5FBE1;P00740	.;FA9_HUMAN	S	191;153	ENSP00000218099:R191S;ENSP00000377650:R153S	ENSP00000218099:R191S	R	+	1	0	F9	138460937	0.991000	0.36638	0.198000	0.23420	0.158000	0.22134	2.008000	0.40893	0.823000	0.34589	0.529000	0.55759	CGT		0.358	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			12	126	1	0	0.00010058	1	0.000107764	12	126					A	138633271	C	A	138633271	3	1	138	1	0	0	0	0	1	0	0	0	5351	652	23	4	593	4	F9	23	138633271	Missense_Mutation	SNP	C	TCGA-DJ-A3V7-01A-11D-A23M-08		138633271	16637289	36	2935											
PNMA3	29944	broad.mit.edu	37	chrX	152225805	152225805	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtcggacaccaattgttcGgctccaagagtgactatatc	11	10	0	2			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chrX:152225805G>A	ENST00000370264.4	+	1	419	c.393G>A	c.(391-393)tcG>tcA	p.S131S	PNMA3_ENST00000370265.4_Silent_p.S131S|PNMA3_ENST00000447306.1_Silent_p.S131S			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	131					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					ccaattgttcggctccaagag	0.532													G|||	1	0.000264901	0	0	3775	,	,		13137	0		0	False		,,,				2504	0.001					ENST00000447306.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(391-393)tcG>tcA		paraneoplastic Ma antigen 3							41	42	42					X																	152225805		2203	4300	6503	SO:0001819	synonymous_variant	29944				apoptosis	nucleolus	nucleic acid binding|zinc ion binding	g.chrX:152225805G>A	AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"Paraneoplastic Ma antigens"	18742	protein-coding gene	gene with protein product	"paraneoplastic cancer-testis-brain antigen"	300675	"paraneoplastic antigen MA3"			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.393G>A	X.37:g.152225805G>A						PNMA3_ENST00000370264.4_Silent_p.S131S|PNMA3_ENST00000370265.4_Silent_p.S131S	p.S131S	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN			2	729	+	Acute lymphoblastic leukemia(192;6.56e-05)		131					D3DWT7|Q9H0A4	Silent	SNP	ENST00000370264.4	37	c.393G>A	CCDS35435.2																																																																																				0.532	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060946.2	NM_013364		20	73	0	0	0	1	0	20	73					A	152225805	G	A	152225805	2	1	138	1	0	0	0	0	0	0	0	1	12155	1103	39	1		1	PNMA3	23	152225805	Silent	SNP	G	TCGA-DJ-A3V7-01A-11D-A23M-08	13592534	152225805	3044755	37	2936											
CENPF	1063	broad.mit.edu	37	chr1	214832258	214832258	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gaagaacaaccatggcaactCggaccagcccccgcctggct	10	16	0	1	rs545308395	byFrequency	TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chr1:214832258C>A	ENST00000366955.3	+	19	9196	c.9028C>A	c.(9028-9030)Cgg>Agg	p.R3010R		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	3106	Sufficient for centromere localization.|Sufficient for nuclear localization.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CATGGCAACTCGGACCAGCCC	0.522											OREG0014250	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(9028-9030)Cgg>Agg		centromere protein F, 350/400kDa							120	123	122					1																	214832258		2203	4300	6503	SO:0001819	synonymous_variant	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214832258C>A	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.9028C>A	1.37:g.214832258C>A			OREG0014250	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2224		p.R3010R	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	19	9196	+			3106			Sufficient for centromere localization.|Sufficient for nuclear localization.		Q13171|Q13246|Q5VVM7	Silent	SNP	ENST00000366955.3	37	c.9028C>A	CCDS31023.1																																																																																				0.522	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		4	132	1	0	0.184627	1	0.184627	4	132					A	214832258	C	A	214832258	2	1	139	1	0	0	0	0	0	0	0	1	3231	875	31	4		4	CENPF	1	214832258	Silent	SNP	C	TCGA-DJ-A3V8-01A-11D-A23M-08		214832258	34418363	1	2937											
TGOLN2	10618	broad.mit.edu	37	chr2	85554340	85554340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacatcttttgtggtctgcGcctccgaacctgacttgcta	10	12	2	1			TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chr2:85554340G>A	ENST00000409232.3	-	2	576	c.515C>T	c.(514-516)gCg>gTg	p.A172V	TGOLN2_ENST00000377386.3_Missense_Mutation_p.A172V|TGOLN2_ENST00000444342.2_Missense_Mutation_p.A172V|TGOLN2_ENST00000409015.1_Missense_Mutation_p.A172V|TGOLN2_ENST00000282120.2_Missense_Mutation_p.A74V|TGOLN2_ENST00000398263.2_Missense_Mutation_p.A172V			O43493	TGON2_HUMAN	trans-golgi network protein 2	172	14 X 14 AA tandem repeats.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											TGTGGTCTGCGCCTCCGAACC	0.597																																						ENST00000377386.3																			0											c.(514-516)gCg>gTg		trans-golgi network protein 2							306	310	309					2																	85554340		1957	4143	6100	SO:0001583	missense	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85554340G>A	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"trans-Golgi network protein (46, 48, 51kD isoforms)"	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.515C>T	2.37:g.85554340G>A	ENSP00000386443:p.Ala172Val					TGOLN2_ENST00000444342.2_Missense_Mutation_p.A172V|TGOLN2_ENST00000282120.2_Missense_Mutation_p.A74V|TGOLN2_ENST00000409015.1_Missense_Mutation_p.A172V|TGOLN2_ENST00000398263.2_Missense_Mutation_p.A172V|TGOLN2_ENST00000409232.3_Missense_Mutation_p.A172V	p.A172V			O43493	TGON2_HUMAN			2	977	-			172			14 X 14 AA tandem repeats.		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Missense_Mutation	SNP	ENST00000409232.3	37	c.515C>T	CCDS56126.1	.	.	.	.	.	.	.	.	.	.	G	8.638	0.895245	0.17613	.	.	ENSG00000152291	ENST00000377386;ENST00000282120;ENST00000398263;ENST00000409232;ENST00000409015;ENST00000444342	T;T;T;T;T;T	0.12147	2.86;2.71;2.72;2.86;2.85;2.85	2.82	-5.64	0.02466	.	.	.	.	.	T	0.06142	0.0159	N	0.25647	0.755	0.09310	N	1	P;P;B;P	0.46656	0.882;0.882;0.107;0.882	B;B;B;B	0.30105	0.111;0.111;0.009;0.111	T	0.16335	-1.0406	9	0.51188	T	0.08	-0.0403	8.9636	0.35863	0.112:0.0:0.7146:0.1734	.	172;172;172;172	O43493;O43493-5;O43493-4;O43493-2	TGON2_HUMAN;.;.;.	V	172;74;172;172;172;172	ENSP00000366603:A172V;ENSP00000282120:A74V;ENSP00000381312:A172V;ENSP00000386443:A172V;ENSP00000387035:A172V;ENSP00000391190:A172V	ENSP00000282120:A74V	A	-	2	0	TGOLN2	85407851	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.008000	0.12788	-1.663000	0.01481	-0.777000	0.03380	GCG		0.597	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		43	528	0	0	0	1	0	43	528					A	85554340	G	A	85554340	3	1	139	1	0	0	0	0	1	0	0	0	15833	1087	38	1	810	1	TGOLN2	2	85554340	Missense_Mutation	SNP	G	TCGA-DJ-A3V8-01A-11D-A23M-08		85554340	157645033	2	2938											
DNAH7	56171	broad.mit.edu	37	chr2	196746684	196746684	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attggaggagcttctttcaaTttctttatccatggttccca	7	9	3	0			TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chr2:196746684T>C	ENST00000312428.6	-	36	5896	c.5796A>G	c.(5794-5796)aaA>aaG	p.K1932K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1932					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)			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						CTTCTTTCAATTTCTTTATCC	0.338																																						ENST00000312428.6																			0				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.(5794-5796)aaA>aaG		dynein, axonemal, heavy chain 7							104	98	100					2																	196746684		1824	4075	5899	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196746684T>C	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.5796A>G	2.37:g.196746684T>C							p.K1932K	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			36	5896	-			1932					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.5796A>G	CCDS42794.1																																																																																				0.338	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		12	28	0	0	0	1	0	12	28					C	196746684	T	C	196746684	2	2	139	1	0	0	0	0	0	0	0	1	4606	1490	52	3		3	DNAH7	2	196746684	Silent	SNP	T	TCGA-DJ-A3V8-01A-11D-A23M-08	111192344	196746684	46452689	3	2939											
RBM47	54502	broad.mit.edu	37	chr4	40434683	40434683	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctacctggaaaggtggtggCgtcgacacagtgggaatgac	15	8	1	1			TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chr4:40434683C>T	ENST00000381793.2	-	5	1923	c.1527G>A	c.(1525-1527)acG>acA	p.T509T	RBM47_ENST00000514014.1_Silent_p.T471T|RBM47_ENST00000381795.6_Silent_p.T440T|RBM47_ENST00000319592.4_Silent_p.T440T|RBM47_ENST00000515809.1_5'Flank|RBM47_ENST00000295971.7_Silent_p.T509T			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	509	Ala-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						AAGGTGGTGGCGTCGACACAG	0.552																																						ENST00000319592.4																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(1318-1320)acG>acA		RNA binding motif protein 47							59	64	63					4																	40434683		2203	4300	6503	SO:0001819	synonymous_variant	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40434683C>T	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"RNA binding motif (RRM) containing"	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.1527G>A	4.37:g.40434683C>T						RBM47_ENST00000381795.6_Silent_p.T440T|RBM47_ENST00000514014.1_Silent_p.T471T|RBM47_ENST00000381793.2_Silent_p.T509T|RBM47_ENST00000295971.7_Silent_p.T509T	p.T440T			A0AV96	RBM47_HUMAN			5	2029	-			509					A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Silent	SNP	ENST00000381793.2	37	c.1320G>A	CCDS43223.1																																																																																				0.552	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		7	132	0	0	0	1	0	7	132					T	40434683	C	T	40434683	2	4	139	1	0	0	0	0	0	0	0	1	13141	755	27	1		1	RBM47	4	40434683	Silent	SNP	C	TCGA-DJ-A3V8-01A-11D-A23M-08		40434683	150719593	4	2940											
ATXN1	6310	broad.mit.edu	37	chr6	16327864	16327865	+	In_Frame_Ins	INS	-	-	TGC													gccccggagccctgctgaggINStgctgctgctgctgctgctg							TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chr6:16327864_16327865insTGC	ENST00000244769.4	-	8	1613_1614	c.677_678insGCA	c.(676-678)cac>caGCAc	p.225_226insQ	ATXN1_ENST00000436367.1_In_Frame_Ins_p.225_226insQ	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	225	Poly-Gln.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CCCTGCTGAGGtgctgctgctg	0.653																																						ENST00000244769.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44						c.(676-678)cct>cGCAct		ataxin 1																																				SO:0001652	inframe_insertion	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16327864_16327865insTGC	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.675_677dupGCA	6.37:g.16327871_16327873dupTGC	ENSP00000244769:p.Gln225_Gln225dup					ATXN1_ENST00000436367.1_In_Frame_Ins_p.226_226P>RT	p.226_226P>RT	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN			8	1613_1614	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	226					Q17S02|Q9UJG2|Q9Y4J1	In_Frame_Ins	INS	ENST00000244769.4	37	c.677_678insGCA	CCDS34342.1																																																																																				0.653	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		3	6						3	6	---	---	---	---	TGC	16327865	-	TGC	16327864	7	5	139	1	0	1	1	0	0	0	0	0	1209	1252	44	0	1777	0	ATXN1	6	16327864	In_Frame_Ins	INS	-	TCGA-DJ-A3V8-01A-11D-A23M-08		16327864	154787203	5	2941											
POM121L12	285877	broad.mit.edu	37	chr7	53103868	53103868	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccgccccgccgcccaggaGctcctggacccctgcacccg	12	22	0	0	rs193120562	byFrequency	TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chr7:53103868G>T	ENST00000408890.4	+	1	520	c.504G>T	c.(502-504)gaG>gaT	p.E168D		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	168										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						ccgcccAGGAGCTCCTGGACC	0.721																																						ENST00000408890.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(502-504)gaG>gaT		POM121 transmembrane nucleoporin-like 12							13	17	16					7																	53103868		1840	4049	5889	SO:0001583	missense	285877							g.chr7:53103868G>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.504G>T	7.37:g.53103868G>T	ENSP00000386133:p.Glu168Asp						p.E168D	NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN			1	520	+			168					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.504G>T	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.731315	0.30684	.	.	ENSG00000221900	ENST00000408890	T	0.24538	1.85	2.35	-1.91	0.07641	.	.	.	.	.	T	0.15912	0.0383	L	0.34521	1.04	0.09310	N	1	B	0.31383	0.321	B	0.32583	0.148	T	0.24190	-1.0167	9	0.41790	T	0.15	.	3.8668	0.09019	0.2667:0.3966:0.3367:0.0	.	168	Q8N7R1	P1L12_HUMAN	D	168	ENSP00000386133:E168D	ENSP00000386133:E168D	E	+	3	2	POM121L12	53071362	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.684000	0.05173	-0.529000	0.06358	-1.285000	0.01374	GAG		0.721	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		14	25	1	0	4.3838e-07	1	4.7345e-07	14	25					T	53103868	G	T	53103868	3	4	139	1	0	0	0	0	1	0	0	0	12241	962	34	4	506	4	POM121L12	7	53103868	Missense_Mutation	SNP	G	TCGA-DJ-A3V8-01A-11D-A23M-08		53103868	106034795	6	2942											
ZNF479	90827	broad.mit.edu	37	chr7	57187780	57187780	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcagtgagggttgaggataAgctaaaggctttgccacatt	13	6	1	2			TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chr7:57187780A>C	ENST00000331162.4	-	5	1612	c.1342T>G	c.(1342-1344)Tta>Gta	p.L448V		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	448					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(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GTTGAGGATAAGCTAAAGGCT	0.438																																						ENST00000331162.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84						c.(1342-1344)Tta>Gta		zinc finger protein 479							47	46	47					7																	57187780		2007	4179	6186	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57187780A>C	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"Zinc fingers, C2H2-type", "-"	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.1342T>G	7.37:g.57187780A>C	ENSP00000333776:p.Leu448Val						p.L448V	NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	1612	-			448						Missense_Mutation	SNP	ENST00000331162.4	37	c.1342T>G	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	a	0.018	-1.480212	0.01027	.	.	ENSG00000185177	ENST00000331162	T	0.08282	3.11	0.955	-1.63	0.08345	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03695	0.0105	N	0.21142	0.635	0.09310	N	1	B	0.29716	0.255	B	0.22152	0.038	T	0.44345	-0.9334	9	0.15952	T	0.53	.	2.0227	0.03513	0.2806:0.0:0.4296:0.2898	.	448	Q96JC4	ZN479_HUMAN	V	448	ENSP00000333776:L448V	ENSP00000333776:L448V	L	-	1	2	ZNF479	57191722	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-9.455000	0.00011	-0.495000	0.06659	-0.505000	0.04504	TTA		0.438	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		4	64	0	0	0	1	0	4	64					C	57187780	A	C	57187780	3	2	139	1	0	0	0	0	1	0	0	0	17930	69	3	5	236	5	ZNF479	7	57187780	Missense_Mutation	SNP	A	TCGA-DJ-A3V8-01A-11D-A23M-08	4083912	57187780	101950883	7	2943											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		32	49	0	0	0	1	0	32	49					T	140453136	A	T	140453136	3	4	139	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3V8-01A-11D-A23M-08	83265356	140453136	18685527	8	2944											
ABP1	26	broad.mit.edu	37	chr7	150554897	150554897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttctatgcggggctgaagGgccaggtgctggtgctgcgg	18	9	1	1			TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chr7:150554897G>A	ENST00000493429.1	+	4	1923	c.1339G>A	c.(1339-1341)Ggc>Agc	p.G447S	AOC1_ENST00000416793.2_Missense_Mutation_p.G447S|AOC1_ENST00000467291.1_Missense_Mutation_p.G447S|AOC1_ENST00000360937.4_Missense_Mutation_p.G447S			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	447					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	GGGGCTGAAGGGCCAGGTGCT	0.522																																						ENST00000493429.1																			0											c.(1339-1341)Ggc>Agc		amine oxidase, copper containing 1							58	64	62					7																	150554897		1995	4163	6158	SO:0001583	missense	26							g.chr7:150554897G>A	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"diamine oxidase"	104610	"amiloride binding protein 1 (amine oxidase (copper-containing))"	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1339G>A	7.37:g.150554897G>A	ENSP00000418614:p.Gly447Ser					AOC1_ENST00000467291.1_Missense_Mutation_p.G447S|AOC1_ENST00000416793.2_Missense_Mutation_p.G447S|AOC1_ENST00000360937.4_Missense_Mutation_p.G447S	p.G447S							4	1923	+								C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	c.1339G>A	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125909	0.77436	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000416793;ENST00000437714	T;T;T;T	0.03580	3.88;3.88;3.88;3.88	4.96	4.96	0.65561	Copper amine oxidase, C-terminal (3);	0.175601	0.49916	D	0.000122	T	0.06600	0.0169	L	0.31845	0.965	0.39085	D	0.960982	P;D	0.58620	0.875;0.983	P;P	0.56514	0.56;0.8	T	0.47935	-0.9078	10	0.23891	T	0.37	-15.012	9.4529	0.38736	0.0945:0.0:0.9055:0.0	.	447;447	C9J690;P19801	.;ABP1_HUMAN	S	447;447;447;447;323	ENSP00000418614:G447S;ENSP00000418328:G447S;ENSP00000354193:G447S;ENSP00000411613:G447S	ENSP00000354193:G447S	G	+	1	0	ABP1	150185830	0.336000	0.24757	0.748000	0.31131	0.954000	0.61252	2.452000	0.44961	2.735000	0.93741	0.561000	0.74099	GGC		0.522	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		5	45	0	0	0	1	0	5	45					A	150554897	G	A	150554897	3	1	139	1	0	0	0	0	1	0	0	0	98	1232	43	2	1341	2	ABP1	7	150554897	Missense_Mutation	SNP	G	TCGA-DJ-A3V8-01A-11D-A23M-08	10101761	150554897	8583766	9	2945											
RBM12B	389677	broad.mit.edu	37	chr8	94747845	94747845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attttgaatgagaccgttttCgaaaatgtctatcattaatt	6	5	2	2			TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chr8:94747845C>T	ENST00000399300.2	-	3	1007	c.794G>A	c.(793-795)cGa>cAa	p.R265Q	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.R265Q	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	265							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			AGACCGTTTTCGAAAATGTCT	0.403																																						ENST00000399300.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(793-795)cGa>cAa		RNA binding motif protein 12B							113	104	107					8																	94747845		1847	4094	5941	SO:0001583	missense	389677						nucleotide binding|RNA binding	g.chr8:94747845C>T		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"RNA binding motif (RRM) containing"	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.794G>A	8.37:g.94747845C>T	ENSP00000382239:p.Arg265Gln					RBM12B_ENST00000517700.1_Missense_Mutation_p.R265Q|RBM12B_ENST00000520961.1_Intron	p.R265Q	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	1007	-	Breast(36;4.14e-07)		265					A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.794G>A	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884708	0.51908	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.09538	2.97;3.02	5.36	4.25	0.50352	.	0.332186	0.25166	N	0.032638	T	0.05502	0.0145	N	0.14661	0.345	0.33228	D	0.555574	B	0.24721	0.11	B	0.11329	0.006	T	0.06023	-1.0850	10	0.56958	D	0.05	-5.8131	4.4512	0.11621	0.0:0.7125:0.0:0.2875	.	265	Q8IXT5	RB12B_HUMAN	Q	265	ENSP00000382239:R265Q;ENSP00000427729:R265Q	ENSP00000382239:R265Q	R	-	2	0	RBM12B	94817021	0.142000	0.22610	1.000000	0.80357	0.980000	0.70556	0.661000	0.25023	2.672000	0.90937	0.591000	0.81541	CGA		0.403	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		27	46	0	0	0	1	0	27	46					T	94747845	C	T	94747845	3	4	139	1	0	0	0	0	1	0	0	0	13114	884	31	1	2215	1	RBM12B	8	94747845	Missense_Mutation	SNP	C	TCGA-DJ-A3V8-01A-11D-A23M-08		94747845	51616177	10	2946											
GSN	2934	broad.mit.edu	37	chr9	124062285	124062285	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgggtgcccgaggcgcgggTgagtgcccggggggccccgg	23	13	0	1			TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chr9:124062285T>G	ENST00000373818.4	+	1	213		c.e1+2		GSN_ENST00000373808.2_Intron|GSN_ENST00000341272.2_Intron|GSN_ENST00000545652.1_Intron|GSN_ENST00000436847.1_Intron|GSN_ENST00000412819.1_Intron|GSN_ENST00000373823.3_Intron|GSN_ENST00000449733.1_Intron|GSN_ENST00000394353.2_Intron	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin						actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						gaggcgcgggtgagtgcccgg	0.697																																						ENST00000373818.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						c.e1+2		gelsolin							22	24	23					9																	124062285		1599	3598	5197	SO:0001630	splice_region_variant	2934				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	g.chr9:124062285T>G	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"amyloidosis, Finnish type"	137350	"gelsolin (amyloidosis, Finnish type)"			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.144+2T>G	9.37:g.124062285T>G						GSN_ENST00000412819.1_Intron|GSN_ENST00000373808.2_Intron|GSN_ENST00000449733.1_Intron|GSN_ENST00000341272.2_Intron|GSN_ENST00000373823.3_Intron|GSN_ENST00000436847.1_Intron|GSN_ENST00000394353.2_Intron|GSN_ENST00000545652.1_Intron		NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN			1	213	+								A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Splice_Site	SNP	ENST00000373818.4	37		CCDS6828.1																																																																																				0.697	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177	Intron	9	20	0	0	0	1	0	9	20					G	124062285	T	G	124062285	5	3	139	1	0	0	0	0	0	0	1	0	6825	1710	59	5	148	5	GSN	9	124062285	Splice_Site	SNP	T	TCGA-DJ-A3V8-01A-11D-A23M-08		124062285	17151146	11	2947											
AKR1C3	8644	broad.mit.edu	37	chr10	5136713	5136713	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggatttggcacctatgcacCtccagaggtaagaataattc	10	9	0	2			TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chr10:5136713C>A	ENST00000380554.3	+	1	729	c.77C>A	c.(76-78)cCt>cAt	p.P26H	U8_ENST00000459536.1_RNA|AKR1C3_ENST00000470862.2_Intron|AKR1C3_ENST00000439082.2_Intron|AKR1C3_ENST00000605149.1_Intron	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	26					arachidonic acid metabolic process (GO:0019369)|cellular response to cadmium ion (GO:0071276)|cellular response to calcium ion (GO:0071277)|cellular response to corticosteroid stimulus (GO:0071384)|cellular response to jasmonic acid stimulus (GO:0071395)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to reactive oxygen species (GO:0034614)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|G-protein coupled receptor signaling pathway (GO:0007186)|keratinocyte differentiation (GO:0030216)|male gonad development (GO:0008584)|multicellular organismal macromolecule metabolic process (GO:0044259)|negative regulation of retinoic acid biosynthetic process (GO:1900053)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|progesterone metabolic process (GO:0042448)|prostaglandin metabolic process (GO:0006693)|protein import into nucleus, translocation (GO:0000060)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of testosterone biosynthetic process (GO:2000224)|renal absorption (GO:0070293)|response to nutrient (GO:0007584)|response to prostaglandin (GO:0034694)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	15-hydroxyprostaglandin-D dehydrogenase (NADP+) activity (GO:0047020)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|dihydrotestosterone 17-beta-dehydrogenase activity (GO:0035410)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|ketoreductase activity (GO:0045703)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|prostaglandin D2 11-ketoreductase activity (GO:0036131)|prostaglandin F receptor activity (GO:0004958)|prostaglandin-F synthase activity (GO:0047017)|retinal dehydrogenase activity (GO:0001758)|retinol dehydrogenase activity (GO:0004745)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)|testosterone dehydrogenase (NAD+) activity (GO:0047035)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Bimatoprost(DB00905)|Doxorubicin(DB00997)	ACCTATGCACCTCCAGAGGTA	0.418																																						ENST00000380554.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14						c.(76-78)cCt>cAt		aldo-keto reductase family 1, member C3	Dimethyl sulfoxide(DB01093)|NADH(DB00157)						217	193	201					10																	5136713		2203	4299	6502	SO:0001583	missense	8644				prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	g.chr10:5136713C>A	L43839	CCDS7063.1, CCDS73062.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000196139	ENSG00000196139	1.1.1.213, 1.1.1.188	"Aldo-keto reductases"	386	protein-coding gene	gene with protein product	"dihydrodiol dehydrogenase X", "prostaglandin F synthase", "3-alpha hydroxysteroid dehydrogenase, type II"	603966	"hydroxysteroid (17-beta) dehydrogenase 5", "aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)"	HSD17B5		7650035, 9792917	Standard	NM_003739		Approved	KIAA0119, DDX, HAKRB, PGFS	uc021pml.1	P42330	OTTHUMG00000017585	ENST00000380554.3:c.77C>A	10.37:g.5136713C>A	ENSP00000369927:p.Pro26His					AKR1C3_ENST00000605149.1_Intron|AKR1C3_ENST00000439082.2_Intron|AKR1C3_ENST00000470862.2_Intron	p.P26H	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN			1	729	+			26					A8K2V0|B4DL37|Q5T2L1|Q96DJ1|Q96KI8|Q99530|Q9UCX1|Q9UII3|Q9UKL9	Missense_Mutation	SNP	ENST00000380554.3	37	c.77C>A	CCDS7063.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432326	0.62844	.	.	ENSG00000196139	ENST00000380554	T	0.24151	1.87	2.18	1.18	0.20946	NADP-dependent oxidoreductase domain (3);	0.270473	0.24657	N	0.036666	T	0.30070	0.0753	N	0.22421	0.69	0.26135	N	0.980369	D;D	0.71674	0.998;0.998	D;D	0.72338	0.977;0.97	T	0.05053	-1.0909	10	0.62326	D	0.03	.	7.6502	0.28344	0.2539:0.7461:0.0:0.0	.	26;26	B4DKT3;P42330	.;AK1C3_HUMAN	H	26	ENSP00000369927:P26H	ENSP00000369927:P26H	P	+	2	0	AKR1C3	5126713	0.080000	0.21391	0.001000	0.08648	0.911000	0.54048	3.820000	0.55693	0.409000	0.25649	0.313000	0.20887	CCT		0.418	AKR1C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046533.2	NM_003739		4	143	1	0	0.150653	1	0.156448	4	143					A	5136713	C	A	5136713	3	1	139	1	0	0	0	0	1	0	0	0	471	681	24	4	79	4	AKR1C3	10	5136713	Missense_Mutation	SNP	C	TCGA-DJ-A3V8-01A-11D-A23M-08		5136713	130398034	12	2948											
SDS	10993	broad.mit.edu	37	chr12	113835178	113835178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctccttcagctctttcaCgatggaagcgtggccttccc	9	14	4	0			TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chr12:113835178C>T	ENST00000257549.4	-	6	567	c.445G>A	c.(445-447)Gtg>Atg	p.V149M		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	149					gluconeogenesis (GO:0006094)|L-serine catabolic process (GO:0006565)|pyruvate biosynthetic process (GO:0042866)|response to amino acid (GO:0043200)|response to cobalamin (GO:0033590)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)	AGCTCTTTCACGATGGAAGCG	0.657																																						ENST00000257549.4																			0				large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11						c.(445-447)Gtg>Atg		serine dehydratase	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						49	49	49					12																	113835178		2203	4300	6503	SO:0001583	missense	10993				gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr12:113835178C>T	J05037	CCDS9169.1	12q24.13	2014-06-24			ENSG00000135094	ENSG00000135094	4.3.1.17		10691	protein-coding gene	gene with protein product	"L-serine ammonia-lyase"	182128				2674117	Standard	NM_006843		Approved	SDH	uc001tvg.3	P20132	OTTHUMG00000169554	ENST00000257549.4:c.445G>A	12.37:g.113835178C>T	ENSP00000257549:p.Val149Met						p.V149M	NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN			6	567	-			149					A8K9P5	Missense_Mutation	SNP	ENST00000257549.4	37	c.445G>A	CCDS9169.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.07|10.07	1.250000|1.250000	0.22880|0.22880	.|.	.|.	ENSG00000135094|ENSG00000135094	ENST00000552280|ENST00000257549;ENST00000446302	D|D	0.96856|0.96774	-4.15|-4.12	4.45|4.45	3.57|3.57	0.40892|0.40892	.|Pyridoxal phosphate-dependent enzyme, beta subunit (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97126|0.97126	0.9061|0.9061	M|M	0.65498|0.65498	2.005|2.005	0.50313|0.50313	D|D	0.999869|0.999869	.|D;P	.|0.71674	.|0.998;0.867	.|D;P	.|0.64687	.|0.928;0.484	D|D	0.97086|0.97086	0.9787|0.9787	7|10	0.51188|0.72032	T|D	0.08|0.01	-30.9126|-30.9126	12.3549|12.3549	0.55169|0.55169	0.0:0.917:0.0:0.083|0.0:0.917:0.0:0.083	.|.	.|149;149	.|Q8WW81;P20132	.|.;SDHL_HUMAN	H|M	58|149	ENSP00000449833:R58H|ENSP00000257549:V149M	ENSP00000449833:R58H|ENSP00000257549:V149M	R|V	-|-	2|1	0|0	SDS|SDS	112319561|112319561	0.954000|0.954000	0.32549|0.32549	0.993000|0.993000	0.49108|0.49108	0.673000|0.673000	0.39480|0.39480	2.443000|2.443000	0.44881|0.44881	1.102000|1.102000	0.41551|0.41551	-0.254000|-0.254000	0.11334|0.11334	CGT|GTG		0.657	SDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404790.1	NM_006843		29	65	0	0	0	1	0	29	65					T	113835178	C	T	113835178	3	4	139	1	0	0	0	0	1	0	0	0	13975	536	19	1	553	1	SDS	12	113835178	Missense_Mutation	SNP	C	TCGA-DJ-A3V8-01A-11D-A23M-08		113835178	20016717	13	2949											
FRMD6	122786	broad.mit.edu	37	chr14	52188751	52188751	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcccagacatgtgcatctAcatcacagaggacatgctca	8	13	3	2			TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chr14:52188751A>G	ENST00000344768.5	+	12	1641	c.1445A>G	c.(1444-1446)tAc>tGc	p.Y482C	FRMD6_ENST00000553556.1_Missense_Mutation_p.Y124C|FRMD6_ENST00000554167.1_Missense_Mutation_p.Y405C|FRMD6_ENST00000356218.4_Missense_Mutation_p.Y474C|RNU6-301P_ENST00000384277.1_RNA|FRMD6_ENST00000395718.2_Missense_Mutation_p.Y474C			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	482					apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					ATGTGCATCTACATCACAGAG	0.493																																						ENST00000395718.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1420-1422)tAc>tGc		FERM domain containing 6							114	107	109					14																	52188751		2203	4300	6503	SO:0001583	missense	122786					cytoskeleton|mitochondrion|plasma membrane	binding	g.chr14:52188751A>G	BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"expanded homolog"	614555	"chromosome 14 open reading frame 31"	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.1445A>G	14.37:g.52188751A>G	ENSP00000343899:p.Tyr482Cys					FRMD6_ENST00000344768.5_Missense_Mutation_p.Y482C|FRMD6_ENST00000554167.1_Missense_Mutation_p.Y405C|FRMD6_ENST00000356218.4_Missense_Mutation_p.Y474C|FRMD6_ENST00000553556.1_Missense_Mutation_p.Y124C	p.Y474C	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN			12	1706	+	all_epithelial(31;0.0163)|Breast(41;0.089)		482					D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	ENST00000344768.5	37	c.1421A>G	CCDS58318.1	.	.	.	.	.	.	.	.	.	.	A	15.03	2.711704	0.48517	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000554167;ENST00000555703;ENST00000553556	T;T;T;T	0.76968	-1.06;-1.06;-0.83;-0.64	5.65	2.0	0.26442	.	0.185103	0.48767	N	0.000171	T	0.60983	0.2311	N	0.08118	0	0.39700	D	0.971168	D;P;P	0.54964	0.969;0.947;0.948	P;B;P	0.49502	0.613;0.339;0.54	T	0.58411	-0.7641	10	0.39692	T	0.17	.	5.9224	0.19091	0.7412:0.0:0.1358:0.1231	.	405;482;474	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	C	474;474;482;405;122;124	ENSP00000348550:Y474C;ENSP00000379068:Y474C;ENSP00000343899:Y482C;ENSP00000451977:Y405C	ENSP00000343899:Y482C	Y	+	2	0	FRMD6	51258501	1.000000	0.71417	0.623000	0.29173	0.572000	0.35998	5.715000	0.68430	0.159000	0.19401	-1.175000	0.01729	TAC		0.493	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330		4	54	0	0	0	1	0	4	54					G	52188751	A	G	52188751	3	3	139	1	0	0	0	0	1	0	0	0	6054	391	14	3	1463	3	FRMD6	14	52188751	Missense_Mutation	SNP	A	TCGA-DJ-A3V8-01A-11D-A23M-08		52188751	55160789	14	2950											
TYRO3	7301	broad.mit.edu	37	chr15	41862822	41862822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggacagcttgggcatcagcGatgaactaaaggaaaaactg	12	7	1	1	rs142874537		TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chr15:41862822G>A	ENST00000263798.3	+	12	1728	c.1504G>A	c.(1504-1506)Gat>Aat	p.D502N	TYRO3_ENST00000559066.1_Missense_Mutation_p.D457N	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	502					apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GGGCATCAGCGATGAACTAAA	0.547																																						ENST00000263798.3																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43						c.(1504-1506)Gat>Aat		TYRO3 protein tyrosine kinase		G	ASN/ASP	0,4406		0,0,2203	86	87	87		1504	5.0	0.9	15	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	missense	TYRO3	NM_006293.3	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	502/891	41862822	1,13005	2203	4300	6503	SO:0001583	missense	7301					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr15:41862822G>A	D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.1504G>A	15.37:g.41862822G>A	ENSP00000263798:p.Asp502Asn					TYRO3_ENST00000559066.1_Missense_Mutation_p.D457N	p.D502N	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)	12	1728	+		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)	502					O14953|Q86VR3	Missense_Mutation	SNP	ENST00000263798.3	37	c.1504G>A	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.240716	0.58995	0.0	1.16E-4	ENSG00000092445	ENST00000540218;ENST00000263798	T	0.74002	-0.8	4.99	4.99	0.66335	.	0.000000	0.37955	N	0.001871	T	0.66587	0.2804	L	0.33485	1.01	0.45554	D	0.998502	B	0.24768	0.111	B	0.15484	0.013	T	0.65080	-0.6255	10	0.56958	D	0.05	-19.3629	18.4637	0.90748	0.0:0.0:1.0:0.0	.	502	Q06418	TYRO3_HUMAN	N	434;502	ENSP00000263798:D502N	ENSP00000263798:D502N	D	+	1	0	TYRO3	39650114	1.000000	0.71417	0.948000	0.38648	0.971000	0.66376	4.876000	0.63079	2.579000	0.87056	0.563000	0.77884	GAT		0.547	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2			14	114	0	0	0	1	0	14	114					A	41862822	G	A	41862822	3	1	139	1	0	0	0	0	1	0	0	0	16811	1058	37	1	1550	1	TYRO3	15	41862822	Missense_Mutation	SNP	G	TCGA-DJ-A3V8-01A-11D-A23M-08		41862822	60668570	15	2951											
ZCCHC14	23174	broad.mit.edu	37	chr16	87446746	87446746	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaggagctggagtactccgaGgaactgccttcccggggcag	16	11	0	0			TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chr16:87446746G>C	ENST00000268616.4	-	11	1465	c.1248C>G	c.(1246-1248)tcC>tcG	p.S416S		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	416							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		AGTACTCCGAGGAACTGCCTT	0.642																																						ENST00000268616.4																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(1246-1248)tcC>tcG		zinc finger, CCHC domain containing 14							44	41	42					16																	87446746		2198	4300	6498	SO:0001819	synonymous_variant	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87446746G>C	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"Zinc fingers, CCHC domain containing", "Sterile alpha motif (SAM) domain containing"	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.1248C>G	16.37:g.87446746G>C							p.S416S	NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	11	1465	-			416					D3DUN1|O60324|Q3MJD8|Q9UFP0	Silent	SNP	ENST00000268616.4	37	c.1248C>G	CCDS10961.1																																																																																				0.642	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		4	18	0	0	0	1	0	4	18					C	87446746	G	C	87446746	2	2	139	1	0	0	0	0	0	0	0	1	17580	987	35	4		4	ZCCHC14	16	87446746	Silent	SNP	G	TCGA-DJ-A3V8-01A-11D-A23M-08		87446746	2908007	16	2952											
ZNF284	342909	broad.mit.edu	37	chr19	44590377	44590377	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tagatcaggaatgtatgttcAttgcaaattacacacaggag	9	6	2	1			TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chr19:44590377A>T	ENST00000421176.3	+	5	962	c.746A>T	c.(745-747)cAt>cTt	p.H249L	RNU6-902P_ENST00000517212.1_RNA|ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	249					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(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				ATGTATGTTCATTGCAAATTA	0.418																																						ENST00000421176.3																			0				NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15						c.(745-747)cAt>cTt		zinc finger protein 284							73	80	78					19																	44590377		2191	4300	6491	SO:0001583	missense	342909				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44590377A>T	AY166789	CCDS46099.1	19q13.32	2013-01-08				ENSG00000186026		"Zinc fingers, C2H2-type", "-"	13078	protein-coding gene	gene with protein product						12743021	Standard	NM_001037813		Approved	DKFZp781F1775	uc002oyg.1	Q2VY69		ENST00000421176.3:c.746A>T	19.37:g.44590377A>T	ENSP00000411032:p.His249Leu					ZNF223_ENST00000591793.1_3'UTR	p.H249L	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN			5	962	+		Prostate(69;0.0435)	249					Q86WM1	Missense_Mutation	SNP	ENST00000421176.3	37	c.746A>T	CCDS46099.1	.	.	.	.	.	.	.	.	.	.	A	18.55	3.647590	0.67358	.	.	ENSG00000186026	ENST00000421176	D	0.86865	-2.18	2.59	2.59	0.31030	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.96074	0.8721	H	0.99545	4.62	0.09310	N	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.87710	0.2566	9	0.87932	D	0	.	9.7725	0.40598	1.0:0.0:0.0:0.0	.	249	Q2VY69	ZN284_HUMAN	L	249	ENSP00000411032:H249L	ENSP00000411032:H249L	H	+	2	0	ZNF284	49282217	0.053000	0.20554	0.011000	0.14972	0.575000	0.36095	2.647000	0.46639	1.174000	0.42811	0.379000	0.24179	CAT		0.418	ZNF284-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460473.1	NM_001037813		5	81	0	0	0	1	0	5	81					T	44590377	A	T	44590377	3	4	139	1	0	0	0	0	1	0	0	0	17818	217	8	5	760	5	ZNF284	19	44590377	Missense_Mutation	SNP	A	TCGA-DJ-A3V8-01A-11D-A23M-08		44590377	14538606	17	2953											
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-													ctggttgggtttgcacttcaTcctcgaggcagcctcctcga					rs78182391		TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			7	15						7	15	---	---	---	---	-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	139	1	0	1	0	1	0	0	0	0	10727	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-DJ-A3V8-01A-11D-A23M-08		51239296	104031264	18	2954											
S1PR1	1901	broad.mit.edu	37	chr1	101705312	101705312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctggcgctgctcaagaccGtaattatcgtcctgagcgtc	11	13	1	2			TCGA-DJ-A3V9-01A-11D-A23M-08	TCGA-DJ-A3V9-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	baade73f-8f3c-429d-909a-7e617bebfff6	9c28bb06-bac1-433f-8fa5-ff1a88710057	g.chr1:101705312G>A	ENST00000305352.6	+	2	1147	c.772G>A	c.(772-774)Gta>Ata	p.V258I		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	258					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GCTCAAGACCGTAATTATCGT	0.587																																						ENST00000305352.6																			0				NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						c.(772-774)Gta>Ata		sphingosine-1-phosphate receptor 1							93	93	93					1																	101705312		2203	4300	6503	SO:0001583	missense	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101705312G>A	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate", "CD molecules"	3165	protein-coding gene	gene with protein product		601974	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.772G>A	1.37:g.101705312G>A	ENSP00000305416:p.Val258Ile						p.V258I	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN			2	1147	+			258					D3DT66|Q9BYY4|Q9NYN8	Missense_Mutation	SNP	ENST00000305352.6	37	c.772G>A	CCDS777.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632336	0.87660	.	.	ENSG00000170989	ENST00000305352;ENST00000424264	T	0.36878	1.23	5.22	5.22	0.72569	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.51363	0.1670	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.55186	-0.8180	10	0.87932	D	0	.	18.848	0.92215	0.0:0.0:1.0:0.0	.	258	P21453	S1PR1_HUMAN	I	258	ENSP00000305416:V258I	ENSP00000305416:V258I	V	+	1	0	S1PR1	101477900	1.000000	0.71417	0.688000	0.30117	0.831000	0.47069	9.869000	0.99810	2.438000	0.82558	0.449000	0.29647	GTA		0.587	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400		4	121	0	0	0	1	0	4	121					A	101705312	G	A	101705312	3	1	140	1	0	0	0	0	1	0	0	0	13793	1145	40	1	774	1	S1PR1	1	101705312	Missense_Mutation	SNP	G	TCGA-DJ-A3V9-01A-11D-A23M-08		101705312	147545309	1	2955											
PLXNB1	5364	broad.mit.edu	37	chr3	48451952	48451952	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagaatgaggtgcccggccAccccagaccgccactctgca	10	16	1	3			TCGA-DJ-A3V9-01A-11D-A23M-08	TCGA-DJ-A3V9-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	baade73f-8f3c-429d-909a-7e617bebfff6	9c28bb06-bac1-433f-8fa5-ff1a88710057	g.chr3:48451952A>C	ENST00000358536.4	-	30	5701	c.5432T>G	c.(5431-5433)gTg>gGg	p.V1811G	PLXNB1_ENST00000448774.2_Missense_Mutation_p.V422G|PLXNB1_ENST00000358459.4_Missense_Mutation_p.V1628G|PLXNB1_ENST00000456774.1_Missense_Mutation_p.V1628G|PLXNB1_ENST00000296440.6_Missense_Mutation_p.V1811G	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1811					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)	p.V1811G(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTGCCCGGCCACCCCAGACCG	0.592																																						ENST00000358536.4																			1	Substitution - Missense(1)	p.V1811G(1)	pancreas(1)	NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(5431-5433)gTg>gGg		plexin B1							42	46	44					3																	48451952		2203	4300	6503	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48451952A>C	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.5432T>G	3.37:g.48451952A>C	ENSP00000351338:p.Val1811Gly					PLXNB1_ENST00000456774.1_Missense_Mutation_p.V1628G|PLXNB1_ENST00000296440.6_Missense_Mutation_p.V1811G|PLXNB1_ENST00000358459.4_Missense_Mutation_p.V1628G|PLXNB1_ENST00000448774.2_Missense_Mutation_p.V422G	p.V1811G	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	30	5701	-			1811					A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.5432T>G	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	A	15.69	2.907203	0.52333	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000448774;ENST00000456774	T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79	4.56	4.56	0.56223	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.148520	0.45867	D	0.000337	T	0.17365	0.0417	N	0.24115	0.695	0.80722	D	1	D;P	0.69078	0.997;0.5	D;B	0.70487	0.969;0.266	T	0.09684	-1.0663	10	0.22706	T	0.39	.	13.1259	0.59354	1.0:0.0:0.0:0.0	.	1811;1628	O43157;O43157-2	PLXB1_HUMAN;.	G	1811;1628;1811;422;1628	ENSP00000296440:V1811G;ENSP00000351242:V1628G;ENSP00000351338:V1811G;ENSP00000389320:V422G;ENSP00000414199:V1628G	ENSP00000296440:V1811G	V	-	2	0	PLXNB1	48426956	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	7.451000	0.80668	1.683000	0.51011	0.460000	0.39030	GTG		0.592	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		7	21	0	0	0	1	0	7	21					C	48451952	A	C	48451952	3	2	140	1	0	0	0	0	1	0	0	0	12123	159	6	5	1011	5	PLXNB1	3	48451952	Missense_Mutation	SNP	A	TCGA-DJ-A3V9-01A-11D-A23M-08		48451952	149570478	2	2956											
KALRN	8997	broad.mit.edu	37	chr3	124210197	124210197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgggtgtgaccgagcacGtggagggcgatccctgcaaa	16	10	0	1			TCGA-DJ-A3V9-01A-11D-A23M-08	TCGA-DJ-A3V9-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	baade73f-8f3c-429d-909a-7e617bebfff6	9c28bb06-bac1-433f-8fa5-ff1a88710057	g.chr3:124210197G>A	ENST00000240874.3	+	31	4766	c.4609G>A	c.(4609-4611)Gtg>Atg	p.V1537M	KALRN_ENST00000460856.1_Missense_Mutation_p.V1528M|KALRN_ENST00000360013.3_Missense_Mutation_p.V1537M	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1537	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GACCGAGCACGTGGAGGGCGA	0.572																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(4609-4611)Gtg>Atg		kalirin, RhoGEF kinase							76	69	71					3																	124210197		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124210197G>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.4609G>A	3.37:g.124210197G>A	ENSP00000240874:p.Val1537Met					KALRN_ENST00000240874.3_Missense_Mutation_p.V1537M|KALRN_ENST00000460856.1_Missense_Mutation_p.V1528M	p.V1537M	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			31	4736	+			1537			PH 1.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.4609G>A	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.839738	0.51057	.	.	ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013	T;T;T	0.29917	1.55;1.55;1.55	5.12	5.12	0.69794	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.151648	0.44688	D	0.000436	T	0.55924	0.1951	M	0.72479	2.2	0.80722	D	1	D;D;D	0.89917	0.995;1.0;0.997	P;D;D	0.68192	0.852;0.956;0.929	T	0.57963	-0.7720	10	0.62326	D	0.03	.	18.7502	0.91810	0.0:0.0:1.0:0.0	.	1528;1537;1537	C9IZQ6;O60229;O60229-2	.;KALRN_HUMAN;.	M	1528;1537;1537	ENSP00000418611:V1528M;ENSP00000240874:V1537M;ENSP00000353109:V1537M	ENSP00000240874:V1537M	V	+	1	0	KALRN	125692887	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	3.407000	0.52644	2.664000	0.90586	0.655000	0.94253	GTG		0.572	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		13	60	0	0	0	1	0	13	60					A	124210197	G	A	124210197	3	1	140	1	0	0	0	0	1	0	0	0	7975	1145	40	1	4731	1	KALRN	3	124210197	Missense_Mutation	SNP	G	TCGA-DJ-A3V9-01A-11D-A23M-08	75758245	124210197	73812233	3	2957											
PCDH7	5099	broad.mit.edu	37	chr4	31144181	31144181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcagactcctgctggatgCcggtccgcacttctccggag	11	15	2	1	rs549332673		TCGA-DJ-A3V9-01A-11D-A23M-08	TCGA-DJ-A3V9-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	baade73f-8f3c-429d-909a-7e617bebfff6	9c28bb06-bac1-433f-8fa5-ff1a88710057	g.chr4:31144181C>T	ENST00000543491.1	+	3	3478	c.3478C>T	c.(3478-3480)Ccg>Tcg	p.P1160S				O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CTGCTGGATGCCGGTCCGCAC	0.537																																						ENST00000543491.1																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(3478-3480)Ccg>Tcg		protocadherin 7							92	92	92					4																	31144181		2034	4209	6243	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:31144181C>T	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"Cadherins / Protocadherins : Non-clustered"	8659	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 120"	602988	"BH-protocadherin (brain-heart)"			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000543491.1:c.3478C>T	4.37:g.31144181C>T	ENSP00000441802:p.Pro1160Ser						p.P1160S			O60245	PCDH7_HUMAN			3	3478	+			0					O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000543491.1	37	c.3478C>T	CCDS54753.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.5|22.5	4.292534|4.292534	0.80914|0.80914	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000511884|ENST00000543491;ENST00000333135	.|D	.|0.91996	.|-2.95	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	.|.	.|.	.|.	.|.	D|D	0.96457|0.96457	0.8844|0.8844	M|M	0.81802|0.81802	2.56|2.56	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	D|D	0.96125|0.96125	0.9088|0.9088	5|9	.|0.87932	.|D	.|0	.|.	20.5632|20.5632	0.99335|0.99335	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1160;1105	.|F5GWJ1;O60245-3	.|.;.	V|S	841|1160;1105	.|ENSP00000441802:P1160S	.|ENSP00000330302:P1105S	A|P	+|+	2|1	0|0	PCDH7|PCDH7	30753279|30753279	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.872000|0.872000	0.50106|0.50106	7.442000|7.442000	0.80503|0.80503	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GCC|CCG		0.537	PCDH7-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032457, NM_002589		4	106	0	0	0	1	0	4	106					T	31144181	C	T	31144181	3	4	140	1	0	0	0	0	1	0	0	0	11516	739	26	2	3573	2	PCDH7	4	31144181	Missense_Mutation	SNP	C	TCGA-DJ-A3V9-01A-11D-A23M-08		31144181	160010095	4	2958											
CHRNA9	55584	broad.mit.edu	37	chr4	40351257	40351257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggtcctcgttctatatcGtcaacctcctcatcccatgc	7	15	3	0			TCGA-DJ-A3V9-01A-11D-A23M-08	TCGA-DJ-A3V9-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	baade73f-8f3c-429d-909a-7e617bebfff6	9c28bb06-bac1-433f-8fa5-ff1a88710057	g.chr4:40351257G>A	ENST00000310169.2	+	4	863	c.724G>A	c.(724-726)Gtc>Atc	p.V242I		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	242					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	GTTCTATATCGTCAACCTCCT	0.527																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)	ENST00000310169.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33						c.(724-726)Gtc>Atc		cholinergic receptor, nicotinic, alpha 9 (neuronal)	Nicotine(DB00184)						373	361	365					4																	40351257		2203	4300	6503	SO:0001583	missense	55584				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	g.chr4:40351257G>A	AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	14079	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 9 (neuronal)"	605116	"cholinergic receptor, nicotinic, alpha polypeptide 9"				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.724G>A	4.37:g.40351257G>A	ENSP00000312663:p.Val242Ile						p.V242I	NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN			4	863	+			242					Q14CY7|Q4W5A2|Q9NYV2	Missense_Mutation	SNP	ENST00000310169.2	37	c.724G>A	CCDS3459.1	.	.	.	.	.	.	.	.	.	.	G	9.469	1.095151	0.20471	.	.	ENSG00000174343	ENST00000310169	D	0.83755	-1.76	5.55	4.7	0.59300	Neurotransmitter-gated ion-channel ligand-binding (1);Neurotransmitter-gated ion-channel transmembrane domain (1);	0.095889	0.64402	D	0.000001	T	0.62732	0.2452	N	0.05487	-0.04	0.36496	D	0.868745	B	0.17465	0.022	B	0.09377	0.004	T	0.61525	-0.7045	10	0.23302	T	0.38	.	6.8851	0.24195	0.0853:0.0:0.6135:0.3012	.	242	Q9UGM1	ACHA9_HUMAN	I	242	ENSP00000312663:V242I	ENSP00000312663:V242I	V	+	1	0	CHRNA9	40046014	1.000000	0.71417	0.999000	0.59377	0.614000	0.37383	4.903000	0.63272	2.627000	0.88993	0.561000	0.74099	GTC		0.527	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1			8	624	0	0	0	1	0	8	624					A	40351257	G	A	40351257	3	1	140	1	0	0	0	0	1	0	0	0	3389	1145	40	1	738	1	CHRNA9	4	40351257	Missense_Mutation	SNP	G	TCGA-DJ-A3V9-01A-11D-A23M-08	9207076	40351257	150803019	5	2959											
PCDHGA1	56114	broad.mit.edu	37	chr5	140712131	140712131	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcacacgggcgaggtgcGcacggcgcgagccctgctgg	17	14	1	0			TCGA-DJ-A3V9-01A-11D-A23M-08	TCGA-DJ-A3V9-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	baade73f-8f3c-429d-909a-7e617bebfff6	9c28bb06-bac1-433f-8fa5-ff1a88710057	g.chr5:140712131G>A	ENST00000517417.1	+	1	1880	c.1880G>A	c.(1879-1881)cGc>cAc	p.R627H	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R627H	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	627	Cadherin 6. {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)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGAGGTGCGCACGGCGCGA	0.697																																						ENST00000517417.1																			0				breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78						c.(1879-1881)cGc>cAc									24	28	27					5																	140712131		2181	4259	6440	SO:0001583	missense	0							g.chr5:140712131G>A	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1880G>A	5.37:g.140712131G>A	ENSP00000431083:p.Arg627His					PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R627H	p.R627H	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1880	+								Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.1880G>A	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257861	0.59321	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.52754	0.65;0.65	3.92	3.03	0.35002	Cadherin (4);Cadherin-like (1);	0.292105	0.21849	N	0.068210	T	0.55800	0.1943	M	0.83953	2.67	0.26119	N	0.980578	P;P	0.49358	0.923;0.845	B;P	0.46825	0.393;0.528	T	0.55755	-0.8091	10	0.72032	D	0.01	.	11.2145	0.48819	0.0946:0.0:0.9054:0.0	.	627;627	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	H	627	ENSP00000431083:R627H;ENSP00000367345:R627H	ENSP00000367345:R627H	R	+	2	0	PCDHGA1	140692315	0.840000	0.29493	1.000000	0.80357	0.971000	0.66376	2.463000	0.45058	0.983000	0.38602	0.580000	0.79431	CGC		0.697	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		4	87	0	0	0	1	0	4	87					A	140712131	G	A	140712131	3	1	140	1	0	0	0	0	1	0	0	0	11550	1087	38	1	1882	1	PCDHGA1	5	140712131	Missense_Mutation	SNP	G	TCGA-DJ-A3V9-01A-11D-A23M-08		140712131	40203129	6	2960											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3V9-01A-11D-A23M-08	TCGA-DJ-A3V9-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	baade73f-8f3c-429d-909a-7e617bebfff6	9c28bb06-bac1-433f-8fa5-ff1a88710057	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		24	42	0	0	0	1	0	24	42					T	140453136	A	T	140453136	3	4	140	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3V9-01A-11D-A23M-08		140453136	18685527	7	2961											
WDR37	22884	broad.mit.edu	37	chr10	1175152	1175152	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggtttgtttgatcatcactaGggccacaggagaatggtatg	13	6	2	2			TCGA-DJ-A3V9-01A-11D-A23M-08	TCGA-DJ-A3V9-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	baade73f-8f3c-429d-909a-7e617bebfff6	9c28bb06-bac1-433f-8fa5-ff1a88710057	g.chr10:1175152G>C	ENST00000358220.1	+	14	1497		c.e14-1		WDR37_ENST00000263150.4_Splice_Site|WDR37_ENST00000482165.1_Splice_Site			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37											breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		ATCATCACTAGGGCCACAGGA	0.458																																						ENST00000358220.1																			0				breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17						c.e14-1		WD repeat domain 37							119	92	101					10																	1175152		2203	4300	6503	SO:0001630	splice_region_variant	22884							g.chr10:1175152G>C	AB023199	CCDS7057.1	10p15.3	2013-01-09			ENSG00000047056	ENSG00000047056		"WD repeat domain containing"	31406	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_014023		Approved	KIAA0982	uc001igf.1	Q9Y2I8	OTTHUMG00000017540	ENST00000358220.1:c.1354-1G>C	10.37:g.1175152G>C						WDR37_ENST00000263150.4_Splice_Site|WDR37_ENST00000482165.1_Splice_Site				Q9Y2I8	WDR37_HUMAN		Epithelial(11;0.134)	14	1497	+		all_epithelial(10;0.0449)|Colorectal(49;0.142)						A8K976|D3DRQ7|Q5SW03|Q8WVG2|Q9NTJ6	Splice_Site	SNP	ENST00000358220.1	37		CCDS7057.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.810679	0.32053	.	.	ENSG00000047056	ENST00000358220;ENST00000263150	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8706	0.96849	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR37	1165152	1.000000	0.71417	0.997000	0.53966	0.063000	0.16089	9.726000	0.98782	2.692000	0.91855	0.561000	0.74099	.		0.458	WDR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046418.1	NM_014023	Intron	3	41	0	0	0	1	0	3	41					C	1175152	G	C	1175152	5	2	140	1	0	0	0	0	0	0	1	0	17288	1014	35	4	1403	4	WDR37	10	1175152	Splice_Site	SNP	G	TCGA-DJ-A3V9-01A-11D-A23M-08		1175152	134359595	8	2962											
RRP12	23223	broad.mit.edu	37	chr10	99160855	99160855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcaacccagctacctgacGgccggctgaagaagcggctg	12	14	1	3			TCGA-DJ-A3V9-01A-11D-A23M-08	TCGA-DJ-A3V9-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	baade73f-8f3c-429d-909a-7e617bebfff6	9c28bb06-bac1-433f-8fa5-ff1a88710057	g.chr10:99160855G>A	ENST00000370992.4	-	1	245	c.134C>T	c.(133-135)cCg>cTg	p.P45L	RRP12_ENST00000315563.6_Missense_Mutation_p.P45L|RP11-452K12.7_ENST00000422848.1_RNA|RRP12_ENST00000414986.1_Missense_Mutation_p.P45L	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	45						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GCTACCTGACGGCCGGCTGAA	0.682																																						ENST00000370992.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(133-135)cCg>cTg		ribosomal RNA processing 12 homolog (S. cerevisiae)							15	18	17					10																	99160855		2200	4296	6496	SO:0001583	missense	23223					integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr10:99160855G>A		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"KIAA0690"	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.134C>T	10.37:g.99160855G>A	ENSP00000360031:p.Pro45Leu					RRP12_ENST00000315563.6_Missense_Mutation_p.P45L|RRP12_ENST00000414986.1_Missense_Mutation_p.P45L	p.P45L	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)	1	245	-		Colorectal(252;0.162)	45					B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	c.134C>T	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900499	0.72754	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986	T;T;T	0.32515	1.54;1.45;1.47	5.34	5.34	0.76211	.	0.160323	0.56097	N	0.000027	T	0.44664	0.1304	L	0.61036	1.89	0.80722	D	1	D;D;B	0.67145	0.993;0.996;0.261	P;P;B	0.56398	0.632;0.797;0.015	T	0.13980	-1.0489	10	0.23891	T	0.37	-27.2078	14.4713	0.67519	0.0:0.1482:0.8518:0.0	.	45;45;45	E9PCK7;Q5JTH9-2;Q5JTH9	.;.;RRP12_HUMAN	L	45	ENSP00000360031:P45L;ENSP00000324315:P45L;ENSP00000414863:P45L	ENSP00000324315:P45L	P	-	2	0	RRP12	99150845	1.000000	0.71417	0.998000	0.56505	0.909000	0.53808	4.107000	0.57811	2.656000	0.90262	0.557000	0.71058	CCG		0.682	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		4	13	0	0	0	1	0	4	13					A	99160855	G	A	99160855	3	1	140	1	0	0	0	0	1	0	0	0	13686	1116	39	1	3895	1	RRP12	10	99160855	Missense_Mutation	SNP	G	TCGA-DJ-A3V9-01A-11D-A23M-08	97985703	99160855	36373892	9	2963											
PRMT8	56341	broad.mit.edu	37	chr12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggtgaacagcccccccTcccagcccccccagcccgtc	7	24	1	1			TCGA-DJ-A3V9-01A-11D-A23M-08	TCGA-DJ-A3V9-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	baade73f-8f3c-429d-909a-7e617bebfff6	9c28bb06-bac1-433f-8fa5-ff1a88710057	g.chr12:3649787T>C	ENST00000382622.3	+	2	481	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	31					histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652																																						ENST00000382622.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37						c.(91-93)Tcc>Ccc		protein arginine methyltransferase 8							41	51	47					12																	3649787		2199	4299	6498	SO:0001583	missense	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3649787T>C	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"Protein arginine methyltransferases"	5188	protein-coding gene	gene with protein product		610086	"HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)", "HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.91T>C	12.37:g.3649787T>C	ENSP00000372067:p.Ser31Pro					PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	p.S31P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		2	481	+			31					B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	c.91T>C	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834665	0.50951	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.30182	1.65;1.54	5.52	-6.61	0.01818	.	0.606566	0.17318	N	0.178612	T	0.16171	0.0389	L	0.43152	1.355	0.28544	N	0.911948	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.09997	-1.0649	10	0.29301	T	0.29	.	3.8844	0.09091	0.1085:0.1587:0.4822:0.2506	.	22;31	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	P	22;31	ENSP00000414507:S22P;ENSP00000372067:S31P	ENSP00000372067:S31P	S	+	1	0	PRMT8	3520048	0.000000	0.05858	0.001000	0.08648	0.946000	0.59487	-0.825000	0.04433	-0.996000	0.03455	0.460000	0.39030	TCC		0.652	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		9	59	0	0	0	1	0	9	59					C	3649787	T	C	3649787	3	2	140	1	0	0	0	0	1	0	0	0	12542	1551	54	3	97	3	PRMT8	12	3649787	Missense_Mutation	SNP	T	TCGA-DJ-A3V9-01A-11D-A23M-08		3649787	130202108	10	2964											
LRRC28	123355	broad.mit.edu	37	chr15	99926292	99926292	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acccagtgtctgcagactttTgacctgctgagttgataaac	9	10	1	4			TCGA-DJ-A3V9-01A-11D-A23M-08	TCGA-DJ-A3V9-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	baade73f-8f3c-429d-909a-7e617bebfff6	9c28bb06-bac1-433f-8fa5-ff1a88710057	g.chr15:99926292T>G	ENST00000301981.3	+	10	1329	c.1089T>G	c.(1087-1089)ttT>ttG	p.F363L	LRRC28_ENST00000331450.5_Missense_Mutation_p.F89L|LRRC28_ENST00000447360.2_Missense_Mutation_p.L310W|LRRC28_ENST00000558879.1_3'UTR|LRRC28_ENST00000422500.2_Missense_Mutation_p.F294L	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	363										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			TGCAGACTTTTGACCTGCTGA	0.512																																						ENST00000301981.3																			0				endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12						c.(1087-1089)ttT>ttG		leucine rich repeat containing 28							272	272	272					15																	99926292		2197	4297	6494	SO:0001583	missense	123355							g.chr15:99926292T>G	AK091588	CCDS10380.1, CCDS66873.1	15q26.3	2004-06-29			ENSG00000168904	ENSG00000168904			28355	protein-coding gene	gene with protein product						12975309	Standard	XM_005254861		Approved	MGC24976, FLJ34269, FLJ45242	uc002bva.1	Q86X40	OTTHUMG00000149854	ENST00000301981.3:c.1089T>G	15.37:g.99926292T>G	ENSP00000304923:p.Phe363Leu					LRRC28_ENST00000422500.2_Missense_Mutation_p.F294L|LRRC28_ENST00000558879.1_3'UTR|LRRC28_ENST00000331450.5_Missense_Mutation_p.F89L|LRRC28_ENST00000447360.2_Missense_Mutation_p.L310W	p.F363L	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00106)		10	1329	+	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		363					A8KA22|Q6UY49|Q6ZSS6	Missense_Mutation	SNP	ENST00000301981.3	37	c.1089T>G	CCDS10380.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.4|24.4	4.526771|4.526771	0.85706|0.85706	.|.	.|.	ENSG00000168904|ENSG00000168904	ENST00000301981;ENST00000422500;ENST00000331450|ENST00000447360	T;T;T|T	0.55588|0.57595	0.51;0.83;2.15|0.39	5.81|5.81	3.51|3.51	0.40186|0.40186	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.65512|0.65512	0.2698|0.2698	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	D;P;P|D	0.58268|0.89917	0.982;0.877;0.956|1.0	D;D;P|D	0.67548|0.91635	0.952;0.916;0.899|0.999	T|T	0.64676|0.64676	-0.6351|-0.6351	10|9	0.27082|0.87932	T|D	0.32|0	.|.	9.3438|9.3438	0.38096|0.38096	0.0:0.144:0.0:0.856|0.0:0.144:0.0:0.856	.|.	294;89;363|310	B4DHL3;Q8WUS2;Q86X40|Q86X40-2	.;.;LRC28_HUMAN|.	L|W	363;294;89|310	ENSP00000304923:F363L;ENSP00000398606:F294L;ENSP00000332035:F89L|ENSP00000404520:L310W	ENSP00000304923:F363L|ENSP00000404520:L310W	F|L	+|+	3|2	2|0	LRRC28|LRRC28	97743815|97743815	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.836000|1.836000	0.39191|0.39191	0.471000|0.471000	0.27319|0.27319	0.533000|0.533000	0.62120|0.62120	TTT|TTG		0.512	LRRC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313546.1	NM_144598		17	369	0	0	0	1	0	17	369					G	99926292	T	G	99926292	3	3	140	1	0	0	0	0	1	0	0	0	8982	1809	63	5	1123	5	LRRC28	15	99926292	Missense_Mutation	SNP	T	TCGA-DJ-A3V9-01A-11D-A23M-08		99926292	2605100	11	2965											
KIAA1543	57662	broad.mit.edu	37	chr19	7673068	7673068	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccccctgcttcccgacggtGaccagcctccaggacctggc	11	19	0	1			TCGA-DJ-A3V9-01A-11D-A23M-08	TCGA-DJ-A3V9-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	baade73f-8f3c-429d-909a-7e617bebfff6	9c28bb06-bac1-433f-8fa5-ff1a88710057	g.chr19:7673068G>A	ENST00000160298.4	+	5	779	c.678G>A	c.(676-678)gtG>gtA	p.V226V	CAMSAP3_ENST00000446248.2_Silent_p.V253V	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	226	CH.				epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						TCCCGACGGTGACCAGCCTCC	0.662																																						ENST00000446248.2																			0				cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						c.(757-759)gtG>gtA		calmodulin regulated spectrin-associated protein family, member 3							47	55	52					19																	7673068		2095	4208	6303	SO:0001819	synonymous_variant	57662				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	g.chr19:7673068G>A	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 80"	612685	"KIAA1543"	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.678G>A	19.37:g.7673068G>A						CAMSAP3_ENST00000160298.4_Silent_p.V226V	p.V253V	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN			7	860	+			226			CH.		Q8NDF1	Silent	SNP	ENST00000160298.4	37	c.759G>A	CCDS42489.1																																																																																				0.662	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362		9	67	0	0	0	1	0	9	67					A	7673068	G	A	7673068	2	1	140	1	0	0	0	0	0	0	0	1	8243	1277	45	2		2	KIAA1543	19	7673068	Silent	SNP	G	TCGA-DJ-A3V9-01A-11D-A23M-08		7673068	51455915	12	2966											
TTN	7273	broad.mit.edu	37	chr2	179659202	179659202	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctctacagcgctgatcactGgttctctcactctggccata	8	14	5	1			TCGA-DJ-A3VA-01A-11D-A23M-08	TCGA-DJ-A3VA-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96d7b35-5f53-48ae-a238-77432fc9aee6	54f198a2-b581-4194-bb9d-a1f2bfca0823	g.chr2:179659202G>T	ENST00000591111.1	-	8	1546	c.1322C>A	c.(1321-1323)cCa>cAa	p.P441Q	TTN_ENST00000342175.6_Missense_Mutation_p.P441Q|TTN_ENST00000589042.1_Missense_Mutation_p.P441Q|TTN_ENST00000359218.5_Missense_Mutation_p.P441Q|TTN_ENST00000360870.5_Missense_Mutation_p.P441Q|TTN_ENST00000460472.2_Missense_Mutation_p.P441Q|TTN_ENST00000342992.6_Missense_Mutation_p.P441Q			Q8WZ42	TITIN_HUMAN	titin	0					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)			GCTGATCACTGGTTCTCTCAC	0.517																																						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.(1321-1323)cCa>cAa		titin							177	157	164					2																	179659202		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179659202G>T	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.1322C>A	2.37:g.179659202G>T	ENSP00000465570:p.Pro441Gln					TTN_ENST00000591111.1_Missense_Mutation_p.P441Q|TTN_ENST00000342992.6_Missense_Mutation_p.P441Q|TTN_ENST00000342175.6_Missense_Mutation_p.P441Q|TTN_ENST00000359218.5_Missense_Mutation_p.P441Q|TTN_ENST00000460472.2_Missense_Mutation_p.P441Q|TTN_ENST00000360870.5_Missense_Mutation_p.P441Q	p.P441Q	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)		8	1546	-			441					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.1322C>A		.	.	.	.	.	.	.	.	.	.	G	15.81	2.942478	0.53079	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870;ENST00000436599	T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51	5.87	5.87	0.94306	Titin Z (1);Ribonuclease H-like (1);	.	.	.	.	T	0.64148	0.2572	L	0.27053	0.805	0.36697	D	0.879875	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.70135	-0.4955	9	0.87932	D	0	.	19.8296	0.96630	0.0:0.0:1.0:0.0	.	441;441;441;441;441	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Q	441;441;441;441;441;441;37	ENSP00000343764:P441Q;ENSP00000434586:P441Q;ENSP00000340554:P441Q;ENSP00000352154:P441Q;ENSP00000354117:P441Q;ENSP00000405517:P37Q	ENSP00000340554:P441Q	P	-	2	0	TTN	179367447	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.569000	0.82380	2.780000	0.95670	0.655000	0.94253	CCA		0.517	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		22	224	1	0	3.8784e-16	1	4.3632e-16	22	224					T	179659202	G	T	179659202	3	4	141	1	0	0	0	0	1	0	0	0	16732	1348	47	4	110086	4	TTN	2	179659202	Missense_Mutation	SNP	G	TCGA-DJ-A3VA-01A-11D-A23M-08		179659202	63540171	1	2967											
SEMA3B	7869	broad.mit.edu	37	chr3	50311051	50311051	+	RNA	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgctcggtgcccggcgtcgAgggcgacacccacttcgatc	14	15	0	0			TCGA-DJ-A3VA-01A-11D-A23M-08	TCGA-DJ-A3VA-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96d7b35-5f53-48ae-a238-77432fc9aee6	54f198a2-b581-4194-bb9d-a1f2bfca0823	g.chr3:50311051A>T	ENST00000418948.1	+	0	1130							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CCCGGCGTCGAGGGCGACACC	0.711											OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000418948.1																			0				central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6								sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B							42	49	47					3																	50311051		2122	4228	6350			7869				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity	g.chr3:50311051A>T	U28369	CCDS74941.1	3p21.3	2013-01-11			ENSG00000012171	ENSG00000012171		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10724	protein-coding gene	gene with protein product		601281		SEMAA		7748561, 8633026	Standard	NM_004636		Approved	SemA, semaV, LUCA-1, sema5	uc003cyu.3	Q13214	OTTHUMG00000156970		3.37:g.50311051A>T			OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	968					Q13214	SEM3B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	0	1130	+								Q6GU46|Q8TB71|Q8TDV7|Q93018|Q96GX0	RNA	SNP	ENST00000418948.1	37			.	.	.	.	.	.	.	.	.	.	A	13.23	2.175911	0.38413	.	.	ENSG00000012171	ENST00000316347;ENST00000414456	.	.	.	4.97	3.82	0.43975	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.099352	0.64402	D	0.000002	T	0.63885	0.2549	.	.	.	.	.	.	D;D;P	0.63880	0.993;0.993;0.929	P;P;P	0.59221	0.854;0.854;0.794	T	0.74627	-0.3602	7	0.87932	D	0	.	8.6606	0.34091	0.9094:0.0:0.0906:0.0	.	299;298;299	Q13214-2;F5H2H7;Q13214	.;.;SEM3B_HUMAN	V	298	.	ENSP00000446262:E298V	E	+	2	0	SEMA3B	50286055	1.000000	0.71417	0.623000	0.29173	0.371000	0.29859	7.494000	0.81503	0.936000	0.37367	0.533000	0.62120	GAG		0.711	SEMA3B-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000346890.2	NM_001005914		22	69	0	0	0	1	0	22	69					T	50311051	A	T	50311051	1	4	141	0	1	0	0	0	0	0	0	0	14025	304	11	5		5	SEMA3B	3	50311051	RNA	SNP	A	TCGA-DJ-A3VA-01A-11D-A23M-08		50311051	147711379	2	2968											
PCYT1A	5130	broad.mit.edu	37	chr3	195997320	195997322	+	In_Frame_Del	DEL	TCT	TCT	-													gcactttggaaggaaccccaTcttcttctgttgccccgttg							TCGA-DJ-A3VA-01A-11D-A23M-08	TCGA-DJ-A3VA-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96d7b35-5f53-48ae-a238-77432fc9aee6	54f198a2-b581-4194-bb9d-a1f2bfca0823	g.chr3:195997320_195997322delTCT	ENST00000292823.2	-	3	253_255	c.81_83delAGA	c.(79-84)gaagat>gat	p.E27del	PCYT1A_ENST00000431016.1_In_Frame_Del_p.E27del|PCYT1A_ENST00000491544.1_5'UTR|PCYT1A_ENST00000419333.1_In_Frame_Del_p.E27del|RP11-447L10.1_ENST00000431391.1_3'UTR	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	27					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587)	choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289)			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-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;0.00259)	Choline(DB00122)|Lamivudine(DB00709)	AGGAACCCCATCTTCTTCTGTTG	0.498																																						ENST00000292823.2																			0				cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18						c.(79-84)gat>ga		phosphate cytidylyltransferase 1, choline, alpha	Choline(DB00122)																																			SO:0001651	inframe_deletion	5130					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity	g.chr3:195997320_195997322delTCT	L28957	CCDS3315.1	3q29	2010-07-19	2005-09-05		ENSG00000161217	ENSG00000161217	2.7.7.15		8754	protein-coding gene	gene with protein product	"phosphate cytidylyltransferase 1, choline, alpha isoform"	123695	"phosphate cytidylyltransferase 1, choline, alpha isoform"	PCYT1		7918629	Standard	NM_005017		Approved	CT, CTPCT	uc003fwg.3	P49585	OTTHUMG00000155670	ENST00000292823.2:c.81_83delAGA	3.37:g.195997326_195997328delTCT	ENSP00000292823:p.Glu27del					PCYT1A_ENST00000431016.1_In_Frame_Del_p.ED27del|PCYT1A_ENST00000419333.1_In_Frame_Del_p.ED27del|PCYT1A_ENST00000491544.1_5'UTR	p.ED27del	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	Epithelial(36;1.28e-24)|all cancers(36;1.01e-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;0.00259)	3	253_255	-	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		27					A9LYK9|D3DXB1|Q86Y88	In_Frame_Del	DEL	ENST00000292823.2	37	c.81_83delAGA	CCDS3315.1																																																																																				0.498	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341147.1	NM_005017		7	561						7	561	---	---	---	---	-	195997322	TCT	-	195997320	7	5	141	1	0	1	0	1	0	0	0	0	11610	1435	50	0	1052	0	PCYT1A	3	195997320	In_Frame_Del	DEL	TCT	TCGA-DJ-A3VA-01A-11D-A23M-08	145686269	195997320	2025110	3	2969											
PDCL2	132954	broad.mit.edu	37	chr4	56428581	56428581	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtaacattaccttccagcttGagatttatccctccacattc	4	13	0	1	rs267600191		TCGA-DJ-A3VA-01A-11D-A23M-08	TCGA-DJ-A3VA-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96d7b35-5f53-48ae-a238-77432fc9aee6	54f198a2-b581-4194-bb9d-a1f2bfca0823	g.chr4:56428581G>T	ENST00000295645.4	-	5	663	c.561C>A	c.(559-561)ctC>ctA	p.L187L		NM_152401.2	NP_689614.2	Q8N4E4	PDCL2_HUMAN	phosducin-like 2	187	Thioredoxin fold. {ECO:0000250}.									endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			CTTCCAGCTTGAGATTTATCC	0.323																																						ENST00000295645.4																			0				endometrium(1)|kidney(1)|lung(4)|ovary(1)	7						c.(559-561)ctC>ctA		phosducin-like 2							66	64	65					4																	56428581		1815	4076	5891	SO:0001819	synonymous_variant	132954							g.chr4:56428581G>T	BC034431	CCDS47059.1	4q12	2008-02-05			ENSG00000163440	ENSG00000163440			29524	protein-coding gene	gene with protein product		611676				12424248	Standard	NM_152401		Approved	GCPHLP	uc003hbb.3	Q8N4E4	OTTHUMG00000160674	ENST00000295645.4:c.561C>A	4.37:g.56428581G>T							p.L187L	NM_152401.2	NP_689614.2	Q8N4E4	PDCL2_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)		5	663	-	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		187					A8MWA2|B9ZVQ9	Silent	SNP	ENST00000295645.4	37	c.561C>A	CCDS47059.1																																																																																				0.323	PDCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361659.1	NM_152401		16	24	1	0	1.15088e-07	1	1.21858e-07	16	24					T	56428581	G	T	56428581	2	4	141	1	0	0	0	0	0	0	0	1	11627	1277	45	4		4	PDCL2	4	56428581	Silent	SNP	G	TCGA-DJ-A3VA-01A-11D-A23M-08		56428581	134725695	4	2970											
MAP1B	4131	broad.mit.edu	37	chr5	71492992	71492992	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcacccttagaaaagacCcccctgggtgaacgtagtgt	9	13	1	3	rs79516161	byFrequency	TCGA-DJ-A3VA-01A-11D-A23M-08	TCGA-DJ-A3VA-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96d7b35-5f53-48ae-a238-77432fc9aee6	54f198a2-b581-4194-bb9d-a1f2bfca0823	g.chr5:71492992C>T	ENST00000296755.7	+	5	4108	c.3810C>T	c.(3808-3810)acC>acT	p.T1270T		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1270					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TAGAAAAGACCCCCCTGGGTG	0.522																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(3808-3810)acC>acT		microtubule-associated protein 1B							70	70	70					5																	71492992		2203	4300	6503	SO:0001819	synonymous_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71492992C>T	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.3810C>T	5.37:g.71492992C>T							p.T1270T	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	4108	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1270					A2BDK5	Silent	SNP	ENST00000296755.7	37	c.3810C>T	CCDS4012.1																																																																																				0.522	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		44	88	0	0	0	1	0	44	88					T	71492992	C	T	71492992	2	4	141	1	0	0	0	0	0	0	0	1	9228	610	22	2		2	MAP1B	5	71492992	Silent	SNP	C	TCGA-DJ-A3VA-01A-11D-A23M-08		71492992	109422268	5	2971											
BAT2	7916	broad.mit.edu	37	chr6	31599695	31599695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcctgctccccgaggccGcactgccagcgagacacgga	11	19	0	1			TCGA-DJ-A3VA-01A-11D-A23M-08	TCGA-DJ-A3VA-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96d7b35-5f53-48ae-a238-77432fc9aee6	54f198a2-b581-4194-bb9d-a1f2bfca0823	g.chr6:31599695G>A	ENST00000376033.2	+	16	3479	c.3245G>A	c.(3244-3246)cGc>cAc	p.R1082H	PRRC2A_ENST00000376007.4_Missense_Mutation_p.R1082H	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1082	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R1082H(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCCCGAGGCCGCACTGCCAGC	0.642																																						ENST00000376033.2																			1	Substitution - Missense(1)	p.R1082H(1)	large_intestine(1)	breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(3244-3246)cGc>cAc		proline-rich coiled-coil 2A							26	27	27					6																	31599695		1508	2707	4215	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31599695G>A	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.3245G>A	6.37:g.31599695G>A	ENSP00000365201:p.Arg1082His					PRRC2A_ENST00000376007.4_Missense_Mutation_p.R1082H	p.R1082H	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			16	3479	+			1082			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.3245G>A	CCDS4708.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.46|14.46	2.543298|2.543298	0.45280|0.45280	.|.	.|.	ENSG00000204469|ENSG00000204469	ENST00000424184;ENST00000435052|ENST00000376007;ENST00000376033;ENST00000376010	.|T;T	.|0.02552	.|4.25;4.25	5.04|5.04	5.04|5.04	0.67666|0.67666	.|.	.|0.000000	.|0.49305	.|D	.|0.000150	T|T	0.08582|0.08582	0.0213|0.0213	L|L	0.59436|0.59436	1.845|1.845	0.51482|0.51482	D|D	0.999922|0.999922	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	T|T	0.03887|0.03887	-1.0995|-1.0995	6|10	0.87932|0.87932	D|D	0|0	-7.7335|-7.7335	17.3102|17.3102	0.87207|0.87207	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1082	.|P48634	.|PRC2A_HUMAN	T|H	1081;1070|1082;1082;307	.|ENSP00000365175:R1082H;ENSP00000365201:R1082H	ENSP00000407986:A1081T|ENSP00000365175:R1082H	A|R	+|+	1|2	0|0	PRRC2A|PRRC2A	31707674|31707674	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.811000|8.811000	0.91954|0.91954	2.640000|2.640000	0.89533|0.89533	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.642	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		3	21	0	0	0	1	0	3	21					A	31599695	G	A	31599695	3	1	141	1	0	0	0	0	1	0	0	0	1319	1087	38	1	3303	1	BAT2	6	31599695	Missense_Mutation	SNP	G	TCGA-DJ-A3VA-01A-11D-A23M-08		31599695	139515372	6	2972											
TAX1BP1	8887	broad.mit.edu	37	chr7	27856612	27856612	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtctgcagccagcctgctcgAaactttagtcggcctgatgg	12	12	1	1			TCGA-DJ-A3VA-01A-11D-A23M-08	TCGA-DJ-A3VA-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96d7b35-5f53-48ae-a238-77432fc9aee6	54f198a2-b581-4194-bb9d-a1f2bfca0823	g.chr7:27856612A>T	ENST00000396319.2	+	15	2128	c.2040A>T	c.(2038-2040)cgA>cgT	p.R680R	TAX1BP1_ENST00000265393.6_Silent_p.R638R|TAX1BP1_ENST00000543117.1_Silent_p.R638R|TAX1BP1_ENST00000433216.2_Silent_p.R481R|TAX1BP1_ENST00000409980.1_Silent_p.R704R	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	680					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			AGCCTGCTCGAAACTTTAGTC	0.448																																						ENST00000396319.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(2038-2040)cgA>cgT		Tax1 (human T-cell leukemia virus type I) binding protein 1							90	89	90					7																	27856612		2203	4300	6503	SO:0001819	synonymous_variant	8887				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	g.chr7:27856612A>T	U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.2040A>T	7.37:g.27856612A>T						TAX1BP1_ENST00000409980.1_Silent_p.R704R|TAX1BP1_ENST00000265393.6_Silent_p.R638R|TAX1BP1_ENST00000433216.2_Silent_p.R481R|TAX1BP1_ENST00000543117.1_Silent_p.R638R	p.R680R	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	GBM - Glioblastoma multiforme(3;0.0823)		15	2128	+			680					B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Silent	SNP	ENST00000396319.2	37	c.2040A>T	CCDS5415.1																																																																																				0.448	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	NM_006024		17	116	0	0	0	1	0	17	116					T	27856612	A	T	27856612	2	4	141	1	0	0	0	0	0	0	0	1	15591	233	9	5		5	TAX1BP1	7	27856612	Silent	SNP	A	TCGA-DJ-A3VA-01A-11D-A23M-08		27856612	131282051	7	2973											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3VA-01A-11D-A23M-08	TCGA-DJ-A3VA-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96d7b35-5f53-48ae-a238-77432fc9aee6	54f198a2-b581-4194-bb9d-a1f2bfca0823	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		34	79	0	0	0	1	0	34	79					T	140453136	A	T	140453136	3	4	141	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3VA-01A-11D-A23M-08	112596524	140453136	18685527	8	2974											
PPP3R2	116443	broad.mit.edu	37	chr9	104356700	104356700	+	Intron	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aagaaaaaggctcatacgatGaggaccagcttcttgtggat	11	7	2	2			TCGA-DJ-A3VA-01A-11D-A23M-08	TCGA-DJ-A3VA-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96d7b35-5f53-48ae-a238-77432fc9aee6	54f198a2-b581-4194-bb9d-a1f2bfca0823	g.chr9:104356700G>C	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Silent_p.L171L	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)	CTCATACGATGAGGACCAGCT	0.463																																						ENST00000374806.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(511-513)ctC>ctG		protein phosphatase 3, regulatory subunit B, beta	Cyclosporine(DB00091)						108	92	97					9																	104356700		2203	4300	6503	SO:0001627	intron_variant	5535						calcium ion binding	g.chr9:104356700G>C		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.2767-15058C>G	9.37:g.104356700G>C						GRIN3A_ENST00000361820.3_Intron	p.L171L	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN			1	583	-		Acute lymphoblastic leukemia(62;0.0527)	168					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	c.513C>G	CCDS6758.1																																																																																				0.463	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			9	110	0	0	0	1	0	9	110					C	104356700	G	C	104356700	1	2	141	0	1	0	0	0	0	0	0	0	12401	1277	45	4		4	PPP3R2	9	104356700	Intron	SNP	G	TCGA-DJ-A3VA-01A-11D-A23M-08		104356700	36856731	9	2975											
TACC2	10579	broad.mit.edu	37	chr10	123845778	123845778	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaagacagtggagtgaaaGctgtttcctctgcagacccc	11	11	1	4			TCGA-DJ-A3VA-01A-11D-A23M-08	TCGA-DJ-A3VA-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96d7b35-5f53-48ae-a238-77432fc9aee6	54f198a2-b581-4194-bb9d-a1f2bfca0823	g.chr10:123845778G>T	ENST00000369005.1	+	4	4103	c.3763G>T	c.(3763-3765)Gct>Tct	p.A1255S	TACC2_ENST00000453444.2_Missense_Mutation_p.A1255S|TACC2_ENST00000515603.1_Missense_Mutation_p.A1255S|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.A1255S|TACC2_ENST00000334433.3_Missense_Mutation_p.A1255S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1255					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGGAGTGAAAGCTGTTTCCTC	0.592																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(3763-3765)Gct>Tct		transforming, acidic coiled-coil containing protein 2							81	88	86					10																	123845778		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123845778G>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.3763G>T	10.37:g.123845778G>T	ENSP00000358001:p.Ala1255Ser					TACC2_ENST00000515603.1_Missense_Mutation_p.A1255S|TACC2_ENST00000515273.1_Missense_Mutation_p.A1255S|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.A1255S|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.A1255S	p.A1255S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	4103	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	1255					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.3763G>T	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.023776	0.54683	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.03920	3.83;3.76;3.78;3.83;3.76	5.12	-0.838	0.10762	.	.	.	.	.	T	0.03178	0.0093	L	0.27053	0.805	0.09310	N	1	P;P;P	0.37330	0.59;0.59;0.59	B;B;B	0.33196	0.159;0.159;0.159	T	0.41342	-0.9514	9	0.56958	D	0.05	-3.0907	4.8	0.13292	0.3932:0.0:0.4603:0.1464	.	1255;1255;1255	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	S	1255;1255;1255;1255;1255;1245	ENSP00000358001:A1255S;ENSP00000424467:A1255S;ENSP00000427618:A1255S;ENSP00000334280:A1255S;ENSP00000395048:A1255S	ENSP00000334280:A1255S	A	+	1	0	TACC2	123835768	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.333000	0.07894	-0.067000	0.12976	0.549000	0.68633	GCT		0.592	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			46	129	1	0	2.59344e-38	1	3.01174e-38	46	129					T	123845778	G	T	123845778	3	4	141	1	0	0	0	0	1	0	0	0	15499	971	34	4	3773	4	TACC2	10	123845778	Missense_Mutation	SNP	G	TCGA-DJ-A3VA-01A-11D-A23M-08		123845778	11688969	10	2976											
TMEM5	10329	broad.mit.edu	37	chr12	64173875	64173876	+	Frame_Shift_Del	DEL	GG	GG	-													tccccgcggggcctcaggaaGggggcggcccccgcgcggga					rs397514696		TCGA-DJ-A3VA-01A-11D-A23M-08	TCGA-DJ-A3VA-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96d7b35-5f53-48ae-a238-77432fc9aee6	54f198a2-b581-4194-bb9d-a1f2bfca0823	g.chr12:64173875_64173876delGG	ENST00000261234.6	+	1	293_294	c.135_136delGG	c.(133-138)aaggggfs	p.G46fs	TMEM5_ENST00000537373.1_5'Flank|RP11-415I12.3_ENST00000509615.2_RNA	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	46						integral component of plasma membrane (GO:0005887)				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		gccTCAGGAAGGGGGCGGCCCC	0.743																																						ENST00000261234.6																			0				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15						c.(133-138)aaggfs		transmembrane protein 5																																				SO:0001589	frameshift_variant	10329					integral to plasma membrane		g.chr12:64173875_64173876delGG	AB015633	CCDS8966.1, CCDS61179.1	12q14.1	2013-05-07			ENSG00000118600	ENSG00000118600			13530	protein-coding gene	gene with protein product		605862				10072769, 23217329	Standard	NM_014254		Approved	HP10481	uc001srq.2	Q9Y2B1	OTTHUMG00000168730	ENST00000261234.6:c.135_136delGG	12.37:g.64173877_64173878delGG	ENSP00000261234:p.Gly46fs					RP11-415I12.3_ENST00000509615.2_RNA	p.KG45fs	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)	1	293_294	+		Myeloproliferative disorder(1001;0.0255)	45					A8K017|Q6PKD6	Frame_Shift_Del	DEL	ENST00000261234.6	37	c.135_136delGG	CCDS8966.1																																																																																				0.743	TMEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400821.1	NM_014254		3	6						3	6	---	---	---	---	-	64173876	GG	-	64173875	7	5	141	1	0	1	0	1	0	0	0	0	16171	991	35	0	137	0	TMEM5	12	64173875	Frame_Shift_Del	DEL	GG	TCGA-DJ-A3VA-01A-11D-A23M-08		64173875	69678020	11	2977											
MAP1A	4130	broad.mit.edu	37	chr15	43819231	43819231	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccaaggacagacccctccccCctgcacccctctccccagct	5	24	1	1			TCGA-DJ-A3VA-01A-11D-A23M-08	TCGA-DJ-A3VA-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96d7b35-5f53-48ae-a238-77432fc9aee6	54f198a2-b581-4194-bb9d-a1f2bfca0823	g.chr15:43819231C>G	ENST00000300231.5	+	4	6010	c.5560C>G	c.(5560-5562)Cct>Gct	p.P1854A	MAP1A_ENST00000382031.1_Missense_Mutation_p.P2092A|MAP1A_ENST00000399453.1_Missense_Mutation_p.P1854A			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1854					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	ACCCCTCCCCCCTGCACCCCT	0.622																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(6274-6276)Cct>Gct		microtubule-associated protein 1A	Estramustine(DB01196)						20	21	21					15																	43819231		1844	4076	5920	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43819231C>G	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.5560C>G	15.37:g.43819231C>G	ENSP00000300231:p.Pro1854Ala					MAP1A_ENST00000399453.1_Missense_Mutation_p.P1854A|MAP1A_ENST00000300231.5_Missense_Mutation_p.P1854A	p.P2092A			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	6305	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	1854					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.6274C>G	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	C	8.017	0.758773	0.15846	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.03951	3.75;3.76;3.76	4.87	4.87	0.63330	.	0.000000	0.33691	N	0.004654	T	0.11495	0.0280	L	0.36672	1.1	0.32149	N	0.584429	D	0.60160	0.987	P	0.59643	0.861	T	0.01256	-1.1404	10	0.48119	T	0.1	-10.8929	15.0474	0.71838	0.0:1.0:0.0:0.0	.	1854	P78559	MAP1A_HUMAN	A	2092;1854;1854	ENSP00000371462:P2092A;ENSP00000382380:P1854A;ENSP00000300231:P1854A	ENSP00000300231:P1854A	P	+	1	0	MAP1A	41606523	1.000000	0.71417	1.000000	0.80357	0.197000	0.23852	1.942000	0.40243	2.533000	0.85409	0.557000	0.71058	CCT		0.622	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		4	47	0	0	0	1	0	4	47					G	43819231	C	G	43819231	3	3	141	1	0	0	0	0	1	0	0	0	9227	623	22	4	5562	4	MAP1A	15	43819231	Missense_Mutation	SNP	C	TCGA-DJ-A3VA-01A-11D-A23M-08		43819231	58712161	12	2978											
CASKIN2	57513	broad.mit.edu	37	chr17	73499543	73499543	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccccatggagtcgtagccGctgctcaccagctgcttgtg	12	14	1	0	rs141961301	byFrequency	TCGA-DJ-A3VA-01A-11D-A23M-08	TCGA-DJ-A3VA-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96d7b35-5f53-48ae-a238-77432fc9aee6	54f198a2-b581-4194-bb9d-a1f2bfca0823	g.chr17:73499543G>A	ENST00000321617.3	-	17	2332	c.1746C>T	c.(1744-1746)agC>agT	p.S582S	CASKIN2_ENST00000433559.2_Silent_p.S500S	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	582	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGTCGTAGCCGCTGCTCACCA	0.632																																						ENST00000321617.3																			0				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(1744-1746)agC>agT		CASK interacting protein 2		G	,	0,4394		0,0,2197	40	38	39		1500,1746	-8.3	0.3	17	dbSNP_134	39	6,8566		0,6,4280	no	coding-synonymous,coding-synonymous	CASKIN2	NM_001142643.1,NM_020753.3	,	0,6,6477	AA,AG,GG		0.07,0.0,0.0463	,	500/1121,582/1203	73499543	6,12960	2197	4286	6483	SO:0001819	synonymous_variant	57513					cytoplasm		g.chr17:73499543G>A	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.1746C>T	17.37:g.73499543G>A						CASKIN2_ENST00000433559.2_Silent_p.S500S	p.S582S	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		17	2332	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		582			SAM 2.		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Silent	SNP	ENST00000321617.3	37	c.1746C>T	CCDS11723.1																																																																																				0.632	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		6	96	0	0	0	1	0	6	96					A	73499543	G	A	73499543	2	1	141	1	0	0	0	0	0	0	0	1	2667	1078	38	1		1	CASKIN2	17	73499543	Silent	SNP	G	TCGA-DJ-A3VA-01A-11D-A23M-08		73499543	7695667	13	2979											
TNFSF9	8744	broad.mit.edu	37	chr19	6534761	6534761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctttcaactagagctgcGgcgcgtggtggccggcgagg	16	11	2	1	rs112025865	byFrequency	TCGA-DJ-A3VA-01A-11D-A23M-08	TCGA-DJ-A3VA-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96d7b35-5f53-48ae-a238-77432fc9aee6	54f198a2-b581-4194-bb9d-a1f2bfca0823	g.chr19:6534761G>A	ENST00000245817.3	+	3	487	c.449G>A	c.(448-450)cGg>cAg	p.R150Q		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	150					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						CTAGAGCTGCGGCGCGTGGTG	0.652													a|||	4	0.000798722	0	0	5008	,	,		11210	0		0	False		,,,				2504	0.0041					ENST00000245817.3																			0				central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						c.(448-450)cGg>cAg		tumor necrosis factor (ligand) superfamily, member 9			GLN/ARG	1,4377		0,1,2188	43	44	44		449	0.8	0.0	19	dbSNP_132	44	14,8574		0,14,4280	yes	missense	TNFSF9	NM_003811.3	43	0,15,6468	AA,AG,GG		0.163,0.0228,0.1157	benign	150/255	6534761	15,12951	2189	4294	6483	SO:0001583	missense	8744				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr19:6534761G>A	U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"Tumor necrosis factor (ligand) superfamily"	11939	protein-coding gene	gene with protein product	"receptor 4-1BB ligand", "homolog of mouse 4-1BB-L"	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.449G>A	19.37:g.6534761G>A	ENSP00000245817:p.Arg150Gln						p.R150Q	NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN			3	487	+			150					Q2M3S2	Missense_Mutation	SNP	ENST00000245817.3	37	c.449G>A	CCDS12169.1	.	.	.	.	.	.	.	.	.	.	N	1.045	-0.677685	0.03378	2.28E-4	0.00163	ENSG00000125657	ENST00000245817	D	0.95272	-3.66	4.13	0.824	0.18818	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	1.486760	0.04653	N	0.407458	T	0.78792	0.4339	N	0.00347	-1.61	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.71104	-0.4689	10	0.10902	T	0.67	-0.6728	7.4269	0.27105	0.5662:0.0:0.4338:0.0	.	150	P41273	TNFL9_HUMAN	Q	150	ENSP00000245817:R150Q	ENSP00000245817:R150Q	R	+	2	0	TNFSF9	6485761	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-0.463000	0.06696	-0.421000	0.07416	-1.370000	0.01191	CGG		0.652	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457856.1	NM_003811		3	14	0	0	0	1	0	3	14					A	6534761	G	A	6534761	3	1	141	1	0	0	0	0	1	0	0	0	16309	1116	39	1	459	1	TNFSF9	19	6534761	Missense_Mutation	SNP	G	TCGA-DJ-A3VA-01A-11D-A23M-08		6534761	52594222	14	2980											
WDR88	126248	broad.mit.edu	37	chr19	33666304	33666304	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaatatcccatgtcagtgCgaaagatgtgacaggccttt	9	8	1	2			TCGA-DJ-A3VA-01A-11D-A23M-08	TCGA-DJ-A3VA-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96d7b35-5f53-48ae-a238-77432fc9aee6	54f198a2-b581-4194-bb9d-a1f2bfca0823	g.chr19:33666304C>T	ENST00000355868.3	+	11	1321	c.1245C>T	c.(1243-1245)tgC>tgT	p.C415C	WDR88_ENST00000361680.2_3'UTR|AC008738.2_ENST00000577275.1_RNA|CTD-2540B15.10_ENST00000590117.1_RNA	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	415								p.C415C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					CATGTCAGTGCGAAAGATGTG	0.493																																						ENST00000355868.3																			1	Substitution - coding silent(1)	p.C415C(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25						c.(1243-1245)tgC>tgT		WD repeat domain 88							148	144	145					19																	33666304		2203	4300	6503	SO:0001819	synonymous_variant	126248							g.chr19:33666304C>T	BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"WD repeat domain containing"	26999	protein-coding gene	gene with protein product			"PQQ repeat and WD repeat domain containing"	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.1245C>T	19.37:g.33666304C>T						WDR88_ENST00000361680.2_3'UTR	p.C415C	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN			11	1321	+	Esophageal squamous(110;0.137)		415					Q8NEF8	Silent	SNP	ENST00000355868.3	37	c.1245C>T	CCDS12429.1																																																																																				0.493	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450840.1	NM_173479		65	138	0	0	0	1	0	65	138					T	33666304	C	T	33666304	2	4	141	1	0	0	0	0	0	0	0	1	17332	776	27	1		1	WDR88	19	33666304	Silent	SNP	C	TCGA-DJ-A3VA-01A-11D-A23M-08	27131543	33666304	25462679	15	2981											
CCDC114	93233	broad.mit.edu	37	chr19	48807367	48807367	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctttctccgcgcgctcccgCagcaagcccatcttggcctt	8	18	3	0	rs28582401	byFrequency	TCGA-DJ-A3VA-01A-11D-A23M-08	TCGA-DJ-A3VA-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96d7b35-5f53-48ae-a238-77432fc9aee6	54f198a2-b581-4194-bb9d-a1f2bfca0823	g.chr19:48807367C>A	ENST00000315396.7	-	7	1267	c.585G>T	c.(583-585)ctG>ctT	p.L195L		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	195					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		CGCGCTCCCGCAGCAAGCCCA	0.682													C|||	771	0.153954	0.1422	0.0965	5008	,	,		15049	0.124		0.1988	False		,,,				2504	0.1953					ENST00000315396.7																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24						c.(583-585)ctG>ctT		coiled-coil domain containing 114		C		744,3662	296.7+/-284.4	66,612,1525	43	43	43		585	-0.5	1.0	19	dbSNP_125	43	1589,7011	285.2+/-297.1	159,1271,2870	no	coding-synonymous	CCDC114	NM_144577.3		225,1883,4395	AA,AC,CC		18.4767,16.8861,17.9379		195/671	48807367	2333,10673	2203	4300	6503	SO:0001819	synonymous_variant	93233							g.chr19:48807367C>A	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.585G>T	19.37:g.48807367C>A							p.L195L	NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)	7	1267	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	195					Q6ZRL4|Q96M06|Q9UFG8	Silent	SNP	ENST00000315396.7	37	c.585G>T	CCDS12714.2																																																																																				0.682	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		8	94	1	0	1.26484e-09	1	1.37983e-09	8	94					A	48807367	C	A	48807367	2	1	141	1	0	0	0	0	0	0	0	1	2751	697	25	4		4	CCDC114	19	48807367	Silent	SNP	C	TCGA-DJ-A3VA-01A-11D-A23M-08	15141063	48807367	10321616	16	2982											
TNNI3K	100526835	broad.mit.edu	37	chr1	74715180	74715180	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaaagtcaatttaaattacCgcactgaaaatgggctgtct	8	7	2	1	rs79045456		TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr1:74715180C>T	ENST00000370899.3	+	5	527	c.490C>T	c.(490-492)Cgc>Tgc	p.R164C	FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.R164C|TNNI3K_ENST00000370891.2_Missense_Mutation_p.R164C|FPGT-TNNI3K_ENST00000533006.1_3'UTR|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.R177C|TNNI3K_ENST00000326637.3_Missense_Mutation_p.R63C	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		TTTAAATTACCGCACTGAAAA	0.333																																						ENST00000370895.1																			0											c.(490-492)Cgc>Tgc									148	152	150					1																	74715180		2202	4300	6502	SO:0001583	missense	0					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74715180C>T			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.490C>T	1.37:g.74715180C>T	ENSP00000359936:p.Arg164Cys					FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.R164C|TNNI3K_ENST00000370891.2_Missense_Mutation_p.R164C|TNNI3K_ENST00000326637.3_Missense_Mutation_p.R63C|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.R164C	p.R164C			Q59H18	TNI3K_HUMAN			5	525	+			63						Missense_Mutation	SNP	ENST00000370899.3	37	c.490C>T		.	.	.	.	.	.	.	.	.	.	C	29.1	4.976370	0.92982	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637	T;T;T;T;T	0.16196	2.36;2.36;2.36;2.36;2.36	5.83	5.83	0.93111	Ankyrin repeat-containing domain (3);	0.054702	0.64402	D	0.000001	T	0.25791	0.0628	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.74674	0.925;0.984;0.931;0.967	T	0.01639	-1.1306	10	0.66056	D	0.02	.	19.7289	0.96175	0.0:1.0:0.0:0.0	.	63;164;164;164	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	TNI3K_HUMAN;.;.;.	C	164;164;164;164;63	ENSP00000359936:R164C;ENSP00000359932:R164C;ENSP00000450895:R164C;ENSP00000359928:R164C;ENSP00000322251:R63C	ENSP00000322251:R63C	R	+	1	0	RP11-653A5.2;AC093158.1	74487768	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.811000	0.55620	2.770000	0.95276	0.655000	0.94253	CGC		0.333	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			7	50	0	0	0	1	0	7	50					T	74715180	C	T	74715180	3	4	142	1	0	0	0	0	1	0	0	0	16326	652	23	1	552	1	TNNI3K	1	74715180	Missense_Mutation	SNP	C	TCGA-DJ-A3VB-01A-11D-A23M-08		74715180	174535441	1	2983											
C1orf25	81627	broad.mit.edu	37	chr1	185119602	185119602	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgaatttttccttagggcaCaatggacaagcctgtctgtt	9	9	1	1			TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr1:185119602C>A	ENST00000367506.5	-	3	637	c.369G>T	c.(367-369)ttG>ttT	p.L123F	TRMT1L_ENST00000367504.3_5'UTR	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	123					adult locomotory behavior (GO:0008344)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						CCTTAGGGCACAATGGACAAG	0.353																																						ENST00000367506.5																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(367-369)ttG>ttT		tRNA methyltransferase 1 homolog (S. cerevisiae)-like							49	51	50					1																	185119602		2203	4300	6503	SO:0001583	missense	81627					intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr1:185119602C>A	AF288399	CCDS1366.1	1q25.2	2012-06-29	2012-06-29	2011-01-24	ENSG00000121486	ENSG00000121486			16782	protein-coding gene	gene with protein product	"TRM1-like"	611673	"chromosome 1 open reading frame 25", "TRM1 tRNA methyltransferase 1-like"	C1orf25		11318611, 17198746	Standard	NM_030934		Approved		uc001grf.4	Q7Z2T5	OTTHUMG00000035389	ENST00000367506.5:c.369G>T	1.37:g.185119602C>A	ENSP00000356476:p.Leu123Phe					TRMT1L_ENST00000367504.3_5'UTR	p.L123F	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN			3	637	-			123					Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1	Missense_Mutation	SNP	ENST00000367506.5	37	c.369G>T	CCDS1366.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795092	0.70452	.	.	ENSG00000121486	ENST00000367506	.	.	.	5.37	-0.723	0.11181	Zinc finger, C2H2-like (1);	0.000000	0.64402	D	0.000001	T	0.61763	0.2373	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.60214	-0.7307	9	0.87932	D	0	-8.2295	5.5328	0.16995	0.13:0.4546:0.0:0.4154	.	123	Q7Z2T5	TRM1L_HUMAN	F	123	.	ENSP00000356476:L123F	L	-	3	2	TRMT1L	183386225	0.998000	0.40836	0.998000	0.56505	0.981000	0.71138	0.577000	0.23758	0.182000	0.20032	0.563000	0.77884	TTG		0.353	TRMT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085787.1	NM_030934		6	24	1	0	0.248553	1	0.25447	6	24					A	185119602	C	A	185119602	3	1	142	1	0	0	0	0	1	0	0	0	2034	477	17	4	1884	4	C1orf25	1	185119602	Missense_Mutation	SNP	C	TCGA-DJ-A3VB-01A-11D-A23M-08	110404422	185119602	64131019	2	2984											
PCBP1	5093	broad.mit.edu	37	chr2	70315174	70315174	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagcaggcccccggtcacccTgaggctggtggtgccggcca	15	16	1	1			TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr2:70315174T>A	ENST00000303577.5	+	1	590	c.299T>A	c.(298-300)cTg>cAg	p.L100Q	PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000415742.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000432604.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000439892.1_RNA|PCBP1-AS1_ENST00000425333.1_RNA|PCBP1-AS1_ENST00000366234.3_RNA|PCBP1-AS1_ENST00000421255.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000416068.1_RNA|PCBP1-AS1_ENST00000415060.2_RNA|PCBP1-AS1_ENST00000437456.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000437019.1_RNA|PCBP1-AS1_ENST00000413791.1_RNA|PCBP1-AS1_ENST00000422515.1_RNA|PCBP1-AS1_ENST00000421843.1_RNA|PCBP1-AS1_ENST00000442040.1_RNA|PCBP1-AS1_ENST00000420309.1_RNA|PCBP1-AS1_ENST00000594548.1_RNA|PCBP1-AS1_ENST00000458698.2_RNA|PCBP1-AS1_ENST00000596573.1_RNA|PCBP1-AS1_ENST00000413069.1_RNA|PCBP1-AS1_ENST00000411429.1_RNA|PCBP1-AS1_ENST00000610168.1_RNA|PCBP1-AS1_ENST00000457770.1_RNA|PCBP1-AS1_ENST00000425601.1_RNA|PCBP1-AS1_ENST00000595459.1_RNA|PCBP1-AS1_ENST00000599673.1_RNA|AC016700.2_ENST00000455541.1_lincRNA|PCBP1-AS1_ENST00000429599.2_RNA|PCBP1-AS1_ENST00000609075.1_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000439670.2_RNA|PCBP1-AS1_ENST00000418308.1_RNA|PCBP1-AS1_ENST00000444320.1_RNA|PCBP1-AS1_ENST00000601396.1_RNA|PCBP1-AS1_ENST00000449178.1_RNA|PCBP1-AS1_ENST00000458686.1_RNA|PCBP1-AS1_ENST00000419963.1_RNA|PCBP1-AS1_ENST00000456161.1_RNA|PCBP1-AS1_ENST00000444410.1_RNA|PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000434781.1_RNA|PCBP1-AS1_ENST00000596665.1_RNA|PCBP1-AS1_ENST00000416395.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	100	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.L100P(1)|p.L100Q(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						CCGGTCACCCTGAGGCTGGTG	0.602																																					Colon(85;1146 1307 3484 18706 25380)	ENST00000303577.5																			2	Substitution - Missense(2)	p.L100P(1)|p.L100Q(1)	large_intestine(2)	endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						c.(298-300)cTg>cAg		poly(rC) binding protein 1							59	73	68					2																	70315174		2201	4300	6501	SO:0001583	missense	5093				nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding	g.chr2:70315174T>A		CCDS1898.1	2p13-p12	2013-07-16	2001-11-28		ENSG00000169564	ENSG00000169564			8647	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein E1"	601209	"poly(rC)-binding protein 1"			8833161	Standard	NM_006196		Approved	HNRPE1, hnRNP-E1, HNRPX, hnRNP-X	uc002sgf.3	Q15365	OTTHUMG00000129645	ENST00000303577.5:c.299T>A	2.37:g.70315174T>A	ENSP00000305556:p.Leu100Gln					PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA	p.L100Q	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN			1	590	+			100			KH 2.		Q13157|Q14975	Missense_Mutation	SNP	ENST00000303577.5	37	c.299T>A	CCDS1898.1	.	.	.	.	.	.	.	.	.	.	T	18.11	3.551119	0.65311	.	.	ENSG00000169564	ENST00000303577	T	0.30714	1.52	4.16	4.16	0.48862	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.168590	0.40469	U	0.001094	T	0.60573	0.2279	M	0.91459	3.21	0.54753	D	0.999986	D	0.71674	0.998	D	0.70487	0.969	T	0.69781	-0.5052	10	0.87932	D	0	.	11.8577	0.52449	0.0:0.0:0.0:1.0	.	100	Q15365	PCBP1_HUMAN	Q	100	ENSP00000305556:L100Q	ENSP00000305556:L100Q	L	+	2	0	PCBP1	70168678	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	5.884000	0.69729	2.120000	0.65058	0.477000	0.44152	CTG		0.602	PCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251844.1	NM_006196		12	276	0	0	0	1	0	12	276					A	70315174	T	A	70315174	3	1	142	1	0	0	0	0	1	0	0	0	11500	1580	55	5	301	5	PCBP1	2	70315174	Missense_Mutation	SNP	T	TCGA-DJ-A3VB-01A-11D-A23M-08		70315174	172884199	3	2985											
SLC40A1	30061	broad.mit.edu	37	chr2	190439928	190439928	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccacccagtcaccgatgatgGctcccaggaccagaacagac	9	16	1	3	rs28939076		TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr2:190439928G>C	ENST00000261024.2	-	3	656	c.230C>G	c.(229-231)gCc>gGc	p.A77G	SLC40A1_ENST00000418714.1_5'UTR	NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	77			A -> D (in HFE4). {ECO:0000269|PubMed:10747949, ECO:0000269|PubMed:11518736}.		anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			ACCGATGATGGCTCCCAGGAC	0.493																																						ENST00000261024.2																			0				endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	GRCh37	CM014599	SLC40A1	M	rs28939076	c.(229-231)gCc>gGc		solute carrier family 40 (iron-regulated transporter), member 1							219	221	220					2																	190439928		2203	4300	6503	SO:0001583	missense	30061				anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding	g.chr2:190439928G>C	AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"Solute carriers"	10909	protein-coding gene	gene with protein product	"ferroportin 1"	604653	"solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.230C>G	2.37:g.190439928G>C	ENSP00000261024:p.Ala77Gly					SLC40A1_ENST00000418714.1_5'UTR	p.A77G	NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)		3	656	-			77		A -> D (in HFE4).			Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Missense_Mutation	SNP	ENST00000261024.2	37	c.230C>G	CCDS2299.1	.	.	.	.	.	.	.	.	.	.	G	32	5.113391	0.94339	.	.	ENSG00000138449	ENST00000261024;ENST00000427241	T;T	0.81078	-1.44;-1.45	4.85	4.85	0.62838	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.88288	0.6396	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.74023	0.965;0.982	D	0.86484	0.1793	10	0.34782	T	0.22	-18.9738	18.5253	0.90969	0.0:0.0:1.0:0.0	.	77;77	A8K7Y1;Q9NP59	.;S40A1_HUMAN	G	77	ENSP00000261024:A77G;ENSP00000390005:A77G	ENSP00000261024:A77G	A	-	2	0	SLC40A1	190148173	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.601000	0.98297	2.691000	0.91804	0.650000	0.86243	GCC		0.493	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2			154	304	0	0	0	1	0	154	304					C	190439928	G	C	190439928	3	2	142	1	0	0	0	0	1	0	0	0	14628	1203	42	4	1509	4	SLC40A1	2	190439928	Missense_Mutation	SNP	G	TCGA-DJ-A3VB-01A-11D-A23M-08	120124754	190439928	52759445	4	2986											
LRPAP1	4043	broad.mit.edu	37	chr4	3516526	3516526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccagcagggcgtgcttctCgcggctgcggctcacacgct	13	16	2	0			TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr4:3516526C>T	ENST00000500728.2	-	7	1110	c.964G>A	c.(964-966)Gag>Aag	p.E322K	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	322	LDL receptor binding. {ECO:0000255}.				extracellular negative regulation of signal transduction (GO:1900116)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of protein binding (GO:0032091)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|protein folding (GO:0006457)|receptor-mediated endocytosis (GO:0006898)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum lumen (GO:0048237)|vesicle (GO:0031982)	asialoglycoprotein receptor activity (GO:0004873)|heparin binding (GO:0008201)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|unfolded protein binding (GO:0051082)|very-low-density lipoprotein particle receptor binding (GO:0070326)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		GCGTGCTTCTCGCGGCTGCGG	0.662																																						ENST00000500728.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14						c.(964-966)Gag>Aag		low density lipoprotein receptor-related protein associated protein 1							66	61	63					4																	3516526		2203	4298	6501	SO:0001583	missense	4043				negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding	g.chr4:3516526C>T		CCDS3371.1	4p16.3	2008-05-02	2003-03-17		ENSG00000163956	ENSG00000163956			6701	protein-coding gene	gene with protein product		104225	"low density lipoprotein-related protein-associated protein 1 (alpha-2-macroglobulin receptor-associated protein 1)"	A2MRAP		1712782	Standard	NM_002337		Approved	HBP44	uc003ghh.4	P30533	OTTHUMG00000090299	ENST00000500728.2:c.964G>A	4.37:g.3516526C>T	ENSP00000421922:p.Glu322Lys					LRPAP1_ENST00000296325.5_5'UTR	p.E322K	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.165)	7	1110	-			322			LDL receptor binding (Potential).		D3DVR9|Q2M310|Q53HQ3|Q53HS6	Missense_Mutation	SNP	ENST00000500728.2	37	c.964G>A	CCDS3371.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037296	0.75617	.	.	ENSG00000163956	ENST00000500728	T	0.49139	0.79	4.21	4.21	0.49690	Alpha-2-macroglobulin receptor-associated protein, domain 1 (1);Alpha-2-macroglobulin RAP, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.64338	0.2589	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.68066	-0.5507	10	0.66056	D	0.02	-40.2195	14.1433	0.65334	0.0:1.0:0.0:0.0	.	322	P30533	AMRP_HUMAN	K	322	ENSP00000421922:E322K	ENSP00000421922:E322K	E	-	1	0	LRPAP1	3486324	1.000000	0.71417	0.048000	0.18961	0.115000	0.19883	4.827000	0.62723	2.192000	0.70111	0.561000	0.74099	GAG		0.662	LRPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206659.4			42	87	0	0	0	1	0	42	87					T	3516526	C	T	3516526	3	4	142	1	0	0	0	0	1	0	0	0	8964	893	31	1	117	1	LRPAP1	4	3516526	Missense_Mutation	SNP	C	TCGA-DJ-A3VB-01A-11D-A23M-08		3516526	187637750	5	2987											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		29	48	0	0	0	1	0	29	48					T	140453136	A	T	140453136	3	4	142	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3VB-01A-11D-A23M-08		140453136	18685527	6	2988											
MGAM	8972	broad.mit.edu	37	chr7	141796143	141796143	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttccaggtttgtgtcagaCcaggtgacatgggacataga	12	8	1	3			TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr7:141796143C>T	ENST00000549489.2	+	42	5027	c.4932C>T	c.(4930-4932)gaC>gaT	p.D1644D	MGAM_ENST00000475668.2_Silent_p.D2540D	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1644	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTGTGTCAGACCAGGTGACAT	0.572																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(7618-7620)gaC>gaT		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						48	41	43					7																	141796143		1821	4061	5882	SO:0001819	synonymous_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141796143C>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4932C>T	7.37:g.141796143C>T						MGAM_ENST00000549489.2_Silent_p.D1644D	p.D2540D			O43451	MGA_HUMAN			65	7674	+	Melanoma(164;0.0272)		1644					Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	c.7620C>T	CCDS47727.1																																																																																				0.572	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			10	65	0	0	0	1	0	10	65					T	141796143	C	T	141796143	2	4	142	1	0	0	0	0	0	0	0	1	9541	506	18	2		2	MGAM	7	141796143	Silent	SNP	C	TCGA-DJ-A3VB-01A-11D-A23M-08	1343007	141796143	17342520	7	2989											
MCM4	4173	broad.mit.edu	37	chr8	48883923	48883923	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgggatcatctgtcagctcaAtgcgcgcacctctgtcctgg	11	13	5	0			TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr8:48883923A>T	ENST00000262105.2	+	12	2032	c.1823A>T	c.(1822-1824)aAt>aTt	p.N608I	MCM4_ENST00000523944.1_Missense_Mutation_p.N608I	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	608	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				TGTCAGCTCAATGCGCGCACC	0.498																																						ENST00000262105.2																			0				biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44						c.(1822-1824)aAt>aTt		minichromosome maintenance complex component 4							98	92	94					8																	48883923		2203	4300	6503	SO:0001583	missense	4173				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr8:48883923A>T		CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.1823A>T	8.37:g.48883923A>T	ENSP00000262105:p.Asn608Ile					MCM4_ENST00000523944.1_Missense_Mutation_p.N608I	p.N608I	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN			12	2032	+		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)	608			MCM.		Q8NEH1|Q99658	Missense_Mutation	SNP	ENST00000262105.2	37	c.1823A>T	CCDS6143.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.156830	0.78114	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229	T;T	0.08634	3.07;3.07	6.17	5.02	0.67125	ATPase, AAA+ type, core (1);	0.123647	0.85682	D	0.000000	T	0.46870	0.1415	H	0.99182	4.46	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.76071	0.987;0.987	T	0.67102	-0.5755	10	0.87932	D	0	-36.8898	12.3678	0.55238	0.9348:0.0:0.0652:0.0	.	608;608	B3KMX0;P33991	.;MCM4_HUMAN	I	608;608;595;568	ENSP00000430194:N608I;ENSP00000262105:N608I	ENSP00000262105:N608I	N	+	2	0	MCM4	49046476	1.000000	0.71417	0.994000	0.49952	0.589000	0.36550	9.300000	0.96151	1.159000	0.42565	0.533000	0.62120	AAT		0.498	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914		18	69	0	0	0	1	0	18	69					T	48883923	A	T	48883923	3	4	142	1	0	0	0	0	1	0	0	0	9389	101	4	5	1869	5	MCM4	8	48883923	Missense_Mutation	SNP	A	TCGA-DJ-A3VB-01A-11D-A23M-08		48883923	97480099	8	2990											
CCDC60	160777	broad.mit.edu	37	chr12	119916995	119916995	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcatttctccctcgctaacCgaggctcacgtgtaagtagt	8	12	3	0			TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr12:119916995C>T	ENST00000327554.2	+	4	903	c.438C>T	c.(436-438)acC>acT	p.T146T	RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	146										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CCTCGCTAACCGAGGCTCACG	0.478																																						ENST00000327554.2																			0				endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(436-438)acC>acT		coiled-coil domain containing 60							185	144	158					12																	119916995		2203	4300	6503	SO:0001819	synonymous_variant	160777							g.chr12:119916995C>T	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.438C>T	12.37:g.119916995C>T						CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	p.T146T	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	4	903	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		146						Silent	SNP	ENST00000327554.2	37	c.438C>T	CCDS9190.1																																																																																				0.478	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		32	43	0	0	0	1	0	32	43					T	119916995	C	T	119916995	2	4	142	1	0	0	0	0	0	0	0	1	2831	639	23	1		1	CCDC60	12	119916995	Silent	SNP	C	TCGA-DJ-A3VB-01A-11D-A23M-08		119916995	13934900	9	2991											
MYCBP2	23077	broad.mit.edu	37	chr13	77763175	77763175	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagcactgccatcactggTtggaagtctaaaggcagtag	12	8	2	1			TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr13:77763175T>C	ENST00000544440.2	-	30	4065	c.4048A>G	c.(4048-4050)Acc>Gcc	p.T1350A	MYCBP2_ENST00000357337.6_Missense_Mutation_p.T1350A|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.T1388A					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCATCACTGGTTGGAAGTCTA	0.343																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(4162-4164)Acc>Gcc		MYC binding protein 2, E3 ubiquitin protein ligase							99	95	96					13																	77763175		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77763175T>C	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.4048A>G	13.37:g.77763175T>C	ENSP00000444596:p.Thr1350Ala					MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.T1350A|MYCBP2_ENST00000357337.6_Missense_Mutation_p.T1350A	p.T1388A	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	30	4428	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	1350						Missense_Mutation	SNP	ENST00000544440.2	37	c.4162A>G		.	.	.	.	.	.	.	.	.	.	T	15.52	2.857417	0.51376	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.29397	1.57;1.57;1.57	5.96	5.96	0.96718	.	0.064498	0.64402	D	0.000004	T	0.24122	0.0584	N	0.19112	0.55	0.45464	D	0.998434	B	0.16802	0.019	B	0.21360	0.034	T	0.02942	-1.1091	10	0.40728	T	0.16	.	16.4484	0.83959	0.0:0.0:0.0:1.0	.	1350	O75592	MYCB2_HUMAN	A	1350;1388;1350	ENSP00000349892:T1350A;ENSP00000384288:T1388A;ENSP00000444596:T1350A	ENSP00000349892:T1350A	T	-	1	0	MYCBP2	76661176	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.301000	0.72782	2.285000	0.76669	0.533000	0.62120	ACC		0.343	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		29	42	0	0	0	1	0	29	42					C	77763175	T	C	77763175	3	2	142	1	0	0	0	0	1	0	0	0	10018	1725	60	3	10090	3	MYCBP2	13	77763175	Missense_Mutation	SNP	T	TCGA-DJ-A3VB-01A-11D-A23M-08		77763175	37406703	10	2992											
GRK1	6011	broad.mit.edu	37	chr13	114324127	114324127	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcatgaacggaggtgacatCaggtaagggctgggccagag	16	7	2	3			TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr13:114324127C>T	ENST00000335678.6	+	2	1057	c.825C>T	c.(823-825)atC>atT	p.I275I		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	275	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of apoptotic process (GO:0043066)|photoreceptor cell morphogenesis (GO:0008594)|phototransduction, visible light (GO:0007603)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)|rhodopsin kinase activity (GO:0050254)			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			GAGGTGACATCAGGTAAGGGC	0.597																																						ENST00000335678.6																			0				ovary(2)	2						c.(823-825)atC>atT		G protein-coupled receptor kinase 1							83	83	83					13																	114324127		1969	4147	6116	SO:0001819	synonymous_variant	6011				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity	g.chr13:114324127C>T			13q34	2013-09-02	2004-03-23	2004-03-24	ENSG00000185974	ENSG00000185974	2.7.11.14		10013	protein-coding gene	gene with protein product		180381	"rhodopsin kinase"	RHOK		8812493, 15057823	Standard	NM_002929		Approved	GPRK1, RK	uc010tkf.2	Q15835	OTTHUMG00000185528	ENST00000335678.6:c.825C>T	13.37:g.114324127C>T							p.I275I	NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	all cancers(43;0.234)		2	1057	+	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	275			Protein kinase.		Q53X14	Silent	SNP	ENST00000335678.6	37	c.825C>T																																																																																					0.597	GRK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470655.1	NM_002929		7	139	0	0	0	1	0	7	139					T	114324127	C	T	114324127	2	4	142	1	0	0	0	0	0	0	0	1	6790	816	29	2		2	GRK1	13	114324127	Silent	SNP	C	TCGA-DJ-A3VB-01A-11D-A23M-08	36560952	114324127	845751	11	2993											
GPR139	124274	broad.mit.edu	37	chr16	20043241	20043241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtggcggctgccatggtgCggaaccgcttgctgatgaag	17	10	0	2			TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr16:20043241C>T	ENST00000570682.1	-	2	1178	c.878G>A	c.(877-879)cGc>cAc	p.R293H		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	293					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TGCCATGGTGCGGAACCGCTT	0.512																																						ENST00000570682.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						c.(877-879)cGc>cAc		G protein-coupled receptor 139							112	110	111					16																	20043241		2203	4300	6503	SO:0001583	missense	124274					integral to membrane|plasma membrane		g.chr16:20043241C>T	AY255545	CCDS32398.1	16p13.11	2012-08-21						"GPCR / Class A : Orphans"	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.878G>A	16.37:g.20043241C>T	ENSP00000458791:p.Arg293His						p.R293H	NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN			2	1178	-			293					A8K5R9|Q86SP2|Q8TDU8	Missense_Mutation	SNP	ENST00000570682.1	37	c.878G>A	CCDS32398.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543913	0.86022	.	.	ENSG00000180269	ENST00000326571	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.65407	0.2688	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70357	-0.4894	9	0.87932	D	0	-36.5487	18.4466	0.90686	0.0:1.0:0.0:0.0	.	293	Q6DWJ6	GP139_HUMAN	H	293	.	ENSP00000370779:R293H	R	-	2	0	GPR139	19950742	1.000000	0.71417	0.989000	0.46669	0.999000	0.98932	7.484000	0.81180	2.581000	0.87130	0.655000	0.94253	CGC		0.512	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		75	141	0	0	0	1	0	75	141					T	20043241	C	T	20043241	3	4	142	1	0	0	0	0	1	0	0	0	6648	768	27	1	187	1	GPR139	16	20043241	Missense_Mutation	SNP	C	TCGA-DJ-A3VB-01A-11D-A23M-08		20043241	70311512	12	2994											
EXOC3L2	90332	broad.mit.edu	37	chr19	45721473	45721473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctggtaaggctcgtcctgCattctgcgcagggccagggc	14	13	1	0			TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr19:45721473C>T	ENST00000252482.3	-	6	672	c.645G>A	c.(643-645)atG>atA	p.M215I	EXOC3L2_ENST00000413988.1_Missense_Mutation_p.M215I			Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	215					exocytosis (GO:0006887)	exocyst (GO:0000145)				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		GCTCGTCCTGCATTCTGCGCA	0.667																																						ENST00000413988.1																			0				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(643-645)atG>atA		exocyst complex component 3-like 2							13	11	12					19																	45721473		2187	4274	6461	SO:0001583	missense	90332							g.chr19:45721473C>T	AK093466	CCDS12657.1	19q13.32	2011-07-07			ENSG00000130201	ENSG00000130201			30162	protein-coding gene	gene with protein product						21566143	Standard	NM_138568		Approved	FLJ36147, XTP7	uc002pay.1	Q2M3D2	OTTHUMG00000155018	ENST00000252482.3:c.645G>A	19.37:g.45721473C>T	ENSP00000252482:p.Met215Ile					EXOC3L2_ENST00000252482.3_Missense_Mutation_p.M215I	p.M215I	NM_138568.3	NP_612635.3	Q2M3D2	EX3L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00883)	7	685	-		all_neural(266;0.224)|Ovarian(192;0.231)	215					Q8N9W2|Q96GV2	Missense_Mutation	SNP	ENST00000252482.3	37	c.645G>A	CCDS12657.1	.	.	.	.	.	.	.	.	.	.	C	0.145	-1.098063	0.01843	.	.	ENSG00000130201	ENST00000252482;ENST00000413988	T;T	0.06608	3.28;3.28	3.74	3.74	0.42951	.	0.506389	0.20810	N	0.085262	T	0.05960	0.0155	L	0.36672	1.1	0.29961	N	0.819412	B	0.19445	0.036	B	0.22152	0.038	T	0.14952	-1.0454	10	0.18710	T	0.47	.	11.3799	0.49750	0.0:1.0:0.0:0.0	.	215	Q2M3D2	EX3L2_HUMAN	I	215	ENSP00000252482:M215I;ENSP00000400713:M215I	ENSP00000252482:M215I	M	-	3	0	EXOC3L2	50413313	1.000000	0.71417	0.952000	0.39060	0.375000	0.29983	4.593000	0.61034	1.815000	0.52974	0.205000	0.17691	ATG		0.667	EXOC3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338073.1	NM_138568		5	8	0	0	0	1	0	5	8					T	45721473	C	T	45721473	3	4	142	1	0	0	0	0	1	0	0	0	5305	710	25	2	600	2	EXOC3L2	19	45721473	Missense_Mutation	SNP	C	TCGA-DJ-A3VB-01A-11D-A23M-08		45721473	13407510	13	2995											
KRTAP10-2	386679	broad.mit.edu	37	chr21	45971249	45971249	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacagcagctgggggtgccGcaggggagctcacagcagct	17	12	1	0			TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr21:45971249G>A	ENST00000391621.1	-	1	139	c.93C>T	c.(91-93)tgC>tgT	p.C31C	TSPEAR_ENST00000323084.4_Intron|KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	31	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						TGGGGGTGCCGCAGGGGAGCT	0.687																																						ENST00000391621.1																			0				large_intestine(1)|lung(4)|skin(1)	6						c.(91-93)tgC>tgT		keratin associated protein 10-2							50	56	54					21																	45971249		2203	4300	6503	SO:0001819	synonymous_variant	386679					keratin filament		g.chr21:45971249G>A	AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"Keratin associated proteins"	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.93C>T	21.37:g.45971249G>A						TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron|KRTAP10-2_ENST00000498210.1_Intron	p.C31C	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN			1	139	-			31			22 X 5 AA repeats of C-C-X(3).		Q70LJ5	Silent	SNP	ENST00000391621.1	37	c.93C>T	CCDS42955.1																																																																																				0.687	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1			7	147	0	0	0	1	0	7	147					A	45971249	G	A	45971249	2	1	142	1	0	0	0	0	0	0	0	1	8509	1079	38	1		1	KRTAP10-2	21	45971249	Silent	SNP	G	TCGA-DJ-A3VB-01A-11D-A23M-08		45971249	2158646	14	2996											
ZNF630	57232	broad.mit.edu	37	chrX	47918136	47918136	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatagggtttctctccagtAtgacctctctgatgtagaat	8	9	3	3			TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chrX:47918136A>G	ENST00000409324.3	-	5	1921	c.1695T>C	c.(1693-1695)caT>caC	p.H565H	ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Silent_p.H551H|ZNF630_ENST00000276054.4_Silent_p.H441H	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	565					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						TCTCTCCAGTATGACCTCTCT	0.453																																						ENST00000276054.4																			0				endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						c.(1321-1323)caT>caC		zinc finger protein 630							58	50	53					X																	47918136		2192	4287	6479	SO:0001819	synonymous_variant	57232				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47918136A>G	AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"Zinc fingers, C2H2-type", "-"	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.1695T>C	X.37:g.47918136A>G						ZNF630_ENST00000409324.3_Silent_p.H565H|ZNF630_ENST00000442455.3_Silent_p.H551H|ZNF630-AS1_ENST00000436124.1_RNA	p.H441H			Q2M218	ZN630_HUMAN			5	2257	-			565					F8WAG4|Q5H8Z5	Silent	SNP	ENST00000409324.3	37	c.1323T>C	CCDS35237.2																																																																																				0.453	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327254.1	NM_001037735		4	15	0	0	0	1	0	4	15					G	47918136	A	G	47918136	2	3	142	1	0	0	0	0	0	0	0	1	18051	446	16	3		3	ZNF630	23	47918136	Silent	SNP	A	TCGA-DJ-A3VB-01A-11D-A23M-08		47918136	107352424	15	2997											
CLCNKB	1188	broad.mit.edu	37	chr1	16378296	16378296	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcaccaatcccatcatgccAggggggtatgctctggcagg	12	12	3	0	rs199755248		TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr1:16378296A>C	ENST00000375679.4	+	14	1500	c.1389A>C	c.(1387-1389)ccA>ccC	p.P463P	CLCNKB_ENST00000375667.3_Silent_p.P294P	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	463					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CCATCATGCCAGGGGGGTATG	0.622													C|||	1	0.000199681	0	0	5008	,	,		18264	0.001		0	False		,,,				2504	0					ENST00000375679.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21	GRCh37	CD004305	CLCNKB	D		c.(1387-1389)ccA>ccC		chloride channel, voltage-sensitive Kb							66	66	66					1																	16378296		2203	4300	6503	SO:0001819	synonymous_variant	1188							g.chr1:16378296A>C	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"Ion channels / Chloride channels : Voltage-sensitive"	2027	protein-coding gene	gene with protein product		602023	"chloride channel Kb"				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.1389A>C	1.37:g.16378296A>C						CLCNKB_ENST00000375667.3_Silent_p.P294P	p.P463P	NM_000085.4	NP_000076.2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	14	1500	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)						B3KUY3|Q5T5Q7|Q5T5Q8	Silent	SNP	ENST00000375679.4	37	c.1389A>C	CCDS168.1																																																																																				0.622	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		5	96	0	0	0	1	0	5	96					C	16378296	A	C	16378296	2	2	143	1	0	0	0	0	0	0	0	1	3470	175	7	5		5	CLCNKB	1	16378296	Silent	SNP	A	TCGA-DJ-A3VD-01A-11D-A23M-08		16378296	232872325	1	2998											
VANGL1	81839	broad.mit.edu	37	chr1	116206351	116206351	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagcatatcccaagaggacAttgccaggatcagcaaggac	10	11	1	1	rs143196463	byFrequency	TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr1:116206351A>G	ENST00000355485.2	+	4	545	c.274A>G	c.(274-276)Att>Gtt	p.I92V	VANGL1_ENST00000369509.1_Missense_Mutation_p.I92V|VANGL1_ENST00000310260.3_Missense_Mutation_p.I92V|VANGL1_ENST00000369510.4_Missense_Mutation_p.I90V	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	92					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CCAAGAGGACATTGCCAGGAT	0.562													A|||	3	0.000599042	0	0.0014	5008	,	,		17761	0		0.002	False		,,,				2504	0					ENST00000355485.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27						c.(274-276)Att>Gtt		VANGL planar cell polarity protein 1		A	VAL/ILE,VAL/ILE,VAL/ILE	0,4406		0,0,2203	153	137	143		268,274,274	4.9	1.0	1	dbSNP_134	143	8,8592	6.4+/-24.3	0,8,4292	yes	missense,missense,missense	VANGL1	NM_001172411.1,NM_001172412.1,NM_138959.2	29,29,29	0,8,6495	GG,GA,AA		0.093,0.0,0.0615	benign,benign,benign	90/523,92/525,92/525	116206351	8,12998	2203	4300	6503	SO:0001583	missense	81839				multicellular organismal development	integral to membrane	protein binding	g.chr1:116206351A>G	AB075805	CCDS883.1, CCDS53350.1	1p13.1	2013-03-05	2013-03-05		ENSG00000173218	ENSG00000173218			15512	protein-coding gene	gene with protein product		610132	"vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)", "vang-like 1 (van gogh, Drosophila)"			11956595, 12011995	Standard	NM_001172411		Approved	STB2	uc001efv.1	Q8TAA9	OTTHUMG00000011971	ENST00000355485.2:c.274A>G	1.37:g.116206351A>G	ENSP00000347672:p.Ile92Val					VANGL1_ENST00000369510.3_Missense_Mutation_p.I90V|VANGL1_ENST00000369509.1_Missense_Mutation_p.I92V|VANGL1_ENST00000310260.3_Missense_Mutation_p.I92V	p.I92V	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	4	545	+	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)	92					Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Missense_Mutation	SNP	ENST00000355485.2	37	c.274A>G	CCDS883.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	A	3.078	-0.189688	0.06299	0.0	9.3E-4	ENSG00000173218	ENST00000355485;ENST00000369510;ENST00000310260;ENST00000369509	T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33	4.92	4.92	0.64577	.	0.124680	0.52532	D	0.000069	T	0.45196	0.1330	N	0.11284	0.12	0.46149	D	0.99889	B;B	0.10296	0.002;0.003	B;B	0.10450	0.003;0.005	T	0.46275	-0.9203	10	0.12430	T	0.62	-11.1911	11.6904	0.51512	0.8523:0.1477:0.0:0.0	.	90;92	Q8TAA9-2;Q8TAA9	.;VANG1_HUMAN	V	92;90;92;92	ENSP00000347672:I92V;ENSP00000358523:I90V;ENSP00000310800:I92V;ENSP00000358522:I92V	ENSP00000310800:I92V	I	+	1	0	VANGL1	116007874	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.113000	0.31184	2.197000	0.70478	0.528000	0.53228	ATT		0.562	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033096.1			6	138	0	0	0	1	0	6	138					G	116206351	A	G	116206351	3	3	143	1	0	0	0	0	1	0	0	0	17116	217	8	3	284	3	VANGL1	1	116206351	Missense_Mutation	SNP	A	TCGA-DJ-A3VD-01A-11D-A23M-08	99828055	116206351	133044270	2	2999											
GJA8	2703	broad.mit.edu	37	chr1	147380805	147380805	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttgaagaggcctgtagaGcagcccctgggggagattcc	15	11	0	4			TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr1:147380805G>A	ENST00000369235.1	+	1	723	c.723G>A	c.(721-723)gaG>gaA	p.E241E	GJA8_ENST00000240986.4_Silent_p.E241E			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	241					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GGCCTGTAGAGCAGCCCCTGG	0.552																																					Melanoma(76;1255 1795 8195 52096)	ENST00000240986.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37						c.(721-723)gaG>gaA		gap junction protein, alpha 8, 50kDa							61	59	60					1																	147380805		2203	4300	6503	SO:0001819	synonymous_variant	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147380805G>A	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"Ion channels / Gap junction proteins (connexins)"	4281	protein-coding gene	gene with protein product	"connexin 50"	600897	"gap junction protein, alpha 8, 50kD (connexin 50)", "gap junction protein, alpha 8, 50kDa (connexin 50)"	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.723G>A	1.37:g.147380805G>A						GJA8_ENST00000369235.1_Silent_p.E241E	p.E241E	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN			2	776	+	all_hematologic(923;0.0276)		241					A7L5M5|Q5VVN9|Q9NP25	Silent	SNP	ENST00000369235.1	37	c.723G>A	CCDS30834.1																																																																																				0.552	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		5	85	0	0	0	1	0	5	85					A	147380805	G	A	147380805	2	1	143	1	0	0	0	0	0	0	0	1	6405	962	34	2		2	GJA8	1	147380805	Silent	SNP	G	TCGA-DJ-A3VD-01A-11D-A23M-08	31174454	147380805	101869816	3	3000											
PKLR	5313	broad.mit.edu	37	chr1	155261654	155261654	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggcataagtggacctggCgggcagcctgggcagagcgg	18	11	0	1	rs185753709		TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr1:155261654C>T	ENST00000342741.4	-	10	1549	c.1511G>A	c.(1510-1512)cGc>cAc	p.R504H	PKLR_ENST00000392414.3_Missense_Mutation_p.R473H	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	504			R -> L (in PKRD; instability of the protein; dbSNP:rs185753709).		ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GTGGACCTGGCGGGCAGCCTG	0.602																																						ENST00000392414.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	GRCh37	CM981580	PKLR	M	rs185753709	c.(1417-1419)cGc>cAc		pyruvate kinase, liver and RBC	Pyruvic acid(DB00119)						73	72	72					1																	155261654		2203	4300	6503	SO:0001583	missense	5313				endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	g.chr1:155261654C>T	BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.1511G>A	1.37:g.155261654C>T	ENSP00000339933:p.Arg504His					PKLR_ENST00000342741.4_Missense_Mutation_p.R504H	p.R473H	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		10	1531	-	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		504					O75758|P11973	Missense_Mutation	SNP	ENST00000342741.4	37	c.1418G>A	CCDS1109.1	.	.	.	.	.	.	.	.	.	.	C	33	5.252917	0.95336	.	.	ENSG00000143627	ENST00000423816;ENST00000392414;ENST00000342741;ENST00000271946	D;D	0.99382	-5.8;-5.8	4.85	4.85	0.62838	Pyruvate kinase, C-terminal (2);Pyruvate kinase, alpha/beta (1);	0.000000	0.85682	D	0.000000	D	0.99133	0.9701	M	0.83118	2.625	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.55391	0.775;0.775	D	0.99063	1.0831	10	0.62326	D	0.03	-19.2191	15.8598	0.79012	0.0:1.0:0.0:0.0	.	504;495	P30613;B1AVT1	KPYR_HUMAN;.	H	529;473;504;418	ENSP00000376214:R473H;ENSP00000339933:R504H	ENSP00000271946:R418H	R	-	2	0	PKLR	153528278	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.754000	0.68743	2.677000	0.91161	0.563000	0.77884	CGC		0.602	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	NM_000298		21	100	0	0	0	1	0	21	100					T	155261654	C	T	155261654	3	4	143	1	0	0	0	0	1	0	0	0	11976	768	27	1	221	1	PKLR	1	155261654	Missense_Mutation	SNP	C	TCGA-DJ-A3VD-01A-11D-A23M-08	7880849	155261654	93988967	4	3001											
GXYLT2	727936	broad.mit.edu	37	chr3	72957598	72957598	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtggtggcctgtggcaAtcggctggaggagacgctgg	20	8	0	1	rs191393310	byFrequency	TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr3:72957598A>G	ENST00000389617.4	+	2	517	c.356A>G	c.(355-357)aAt>aGt	p.N119S		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	119					O-glycan processing (GO:0016266)	integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						GCCTGTGGCAATCGGCTGGAG	0.547													A|||	6	0.00119808	0	0.0014	5008	,	,		16232	0		0.003	False		,,,				2504	0.002					ENST00000389617.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						c.(355-357)aAt>aGt		glucoside xylosyltransferase 2		A	SER/ASN	2,3946		0,2,1972	44	48	47		356	4.3	1.0	3		47	31,8299		0,31,4134	yes	missense	GXYLT2	NM_001080393.1	46	0,33,6106	GG,GA,AA		0.3721,0.0507,0.2688	benign	119/444	72957598	33,12245	1974	4165	6139	SO:0001583	missense	727936				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	g.chr3:72957598A>G	AC098481	CCDS46870.1	3p13	2013-02-22	2009-11-17	2009-11-17	ENSG00000172986	ENSG00000172986		"Glycosyltransferase family 8 domain containing"	33383	protein-coding gene	gene with protein product		613322	"glycosyltransferase 8 domain containing 4"	GLT8D4		19940119	Standard	NM_001080393		Approved		uc003dpg.3	A0PJZ3	OTTHUMG00000158815	ENST00000389617.4:c.356A>G	3.37:g.72957598A>G	ENSP00000374268:p.Asn119Ser						p.N119S	NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN			2	517	+			119						Missense_Mutation	SNP	ENST00000389617.4	37	c.356A>G	CCDS46870.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	A	7.820	0.717513	0.15372	5.07E-4	0.003721	ENSG00000172986	ENST00000389617	T	0.48201	0.82	5.44	4.28	0.50868	.	0.276343	0.40144	N	0.001180	T	0.26882	0.0658	N	0.08118	0	0.31353	N	0.682303	B	0.11235	0.004	B	0.20384	0.029	T	0.19745	-1.0296	10	0.20519	T	0.43	.	11.3686	0.49687	0.9289:0.0:0.0711:0.0	.	119	A0PJZ3	GXLT2_HUMAN	S	119	ENSP00000374268:N119S	ENSP00000374268:N119S	N	+	2	0	GXYLT2	73040288	1.000000	0.71417	0.983000	0.44433	0.947000	0.59692	4.201000	0.58439	0.895000	0.36342	-0.274000	0.10170	AAT		0.547	GXYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352318.1	NM_001080393		4	58	0	0	0	1	0	4	58					G	72957598	A	G	72957598	3	3	143	1	0	0	0	0	1	0	0	0	6904	101	4	3	362	3	GXYLT2	3	72957598	Missense_Mutation	SNP	A	TCGA-DJ-A3VD-01A-11D-A23M-08		72957598	125064832	5	3002											
HEATR7B2	133558	broad.mit.edu	37	chr5	41018510	41018510	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctctttcccactctttttgtGaaacaagccacatttggaga	6	11	2	2			TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr5:41018510G>A	ENST00000399564.4	-	27	3146	c.2696C>T	c.(2695-2697)tCa>tTa	p.S899L	MROH2B_ENST00000506092.2_Missense_Mutation_p.S454L	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	899																	CTCTTTTTGTGAAACAAGCCA	0.353																																						ENST00000399564.4																			0											c.(2695-2697)tCa>tTa		maestro heat-like repeat family member 2B							75	70	71					5																	41018510		1848	4092	5940	SO:0001583	missense	133558							g.chr5:41018510G>A		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2696C>T	5.37:g.41018510G>A	ENSP00000382476:p.Ser899Leu					MROH2B_ENST00000506092.2_Missense_Mutation_p.S454L	p.S899L	NM_173489.4	NP_775760.3					27	3146	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.2696C>T	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.746746	0.89663	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.69561	-0.41;-0.41	5.96	5.96	0.96718	Armadillo-type fold (1);	0.000000	0.47852	D	0.000205	T	0.81706	0.4879	M	0.74647	2.275	0.38742	D	0.953911	D	0.89917	1.0	D	0.83275	0.996	D	0.84190	0.0444	10	0.87932	D	0	.	15.9221	0.79583	0.0:0.0:1.0:0.0	.	899	Q7Z745	HTRB2_HUMAN	L	454;604;899	ENSP00000441504:S454L;ENSP00000382476:S899L	ENSP00000296803:S604L	S	-	2	0	HEATR7B2	41054267	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	4.489000	0.60309	2.832000	0.97577	0.655000	0.94253	TCA		0.353	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		4	20	0	0	0	1	0	4	20					A	41018510	G	A	41018510	3	1	143	1	0	0	0	0	1	0	0	0	7035	1294	45	2	2125	2	HEATR7B2	5	41018510	Missense_Mutation	SNP	G	TCGA-DJ-A3VD-01A-11D-A23M-08		41018510	139896750	6	3003											
ERBB2IP	55914	broad.mit.edu	37	chr5	65321737	65321737	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagctttgccttcatctAttgggcagcttactaactta	7	9	2	1	rs373419259		TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr5:65321737A>G	ENST00000284037.5	+	12	1341	c.952A>G	c.(952-954)Att>Gtt	p.I318V	ERBB2IP_ENST00000380938.2_Missense_Mutation_p.I318V|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.I318V|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.I318V|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.I318V|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.I318V|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.I318V|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.I318V|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.I318V|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.I318V	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	318					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		GCCTTCATCTATTGGGCAGCT	0.299																																						ENST00000284037.5																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36						c.(952-954)Att>Gtt		erbb2 interacting protein		A	VAL/ILE,VAL/ILE	0,4404		0,0,2202	55	54	54		952,952	2.0	1.0	5		54	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense	ERBB2IP	NM_001006600.1,NM_018695.2	29,29	0,1,6498	GG,GA,AA		0.0116,0.0,0.0077	benign,benign	318/1303,318/1372	65321737	1,12997	2202	4297	6499	SO:0001583	missense	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65321737A>G		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"densin-180-like protein", "ERBB2-interacting protein"	606944	"erbb2-interacting protein"			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.952A>G	5.37:g.65321737A>G	ENSP00000284037:p.Ile318Val					ERBB2IP_ENST00000416865.2_Missense_Mutation_p.I318V|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.I318V|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.I318V|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.I318V|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.I318V|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.I318V|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.I318V|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.I318V|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.I318V	p.I318V	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	12	1341	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	318					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	c.952A>G	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	A	12.93	2.085655	0.36758	0.0	1.16E-4	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000416865;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T;T	0.25912	1.77;1.77;1.91;1.77;1.77;1.77;1.77;1.77;1.77;1.77	5.66	2.02	0.26589	.	0.139667	0.64402	N	0.000005	T	0.14657	0.0354	N	0.25144	0.715	0.50467	D	0.999876	B;B;B;B;B;B;B;B	0.31009	0.303;0.001;0.001;0.002;0.0;0.001;0.002;0.0	B;B;B;B;B;B;B;B	0.28011	0.085;0.007;0.008;0.009;0.001;0.002;0.03;0.001	T	0.07558	-1.0766	10	0.45353	T	0.12	.	7.7152	0.28700	0.6522:0.0:0.3478:0.0	.	318;318;318;318;318;318;318;318	B4DIP2;Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;.;LAP2_HUMAN;.;.	V	318	ENSP00000284037:I318V;ENSP00000370330:I318V;ENSP00000397833:I318V;ENSP00000370326:I318V;ENSP00000370323:I318V;ENSP00000370322:I318V;ENSP00000370325:I318V;ENSP00000422766:I318V;ENSP00000426632:I318V;ENSP00000422015:I318V	ENSP00000284037:I318V	I	+	1	0	ERBB2IP	65357493	0.722000	0.28017	1.000000	0.80357	0.989000	0.77384	0.070000	0.14573	0.507000	0.28148	-0.256000	0.11100	ATT		0.299	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		5	37	0	0	0	1	0	5	37					G	65321737	A	G	65321737	3	3	143	1	0	0	0	0	1	0	0	0	5207	449	16	3	990	3	ERBB2IP	5	65321737	Missense_Mutation	SNP	A	TCGA-DJ-A3VD-01A-11D-A23M-08	24303227	65321737	115593523	7	3004											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		15	84	0	0	0	1	0	15	84					T	140453136	A	T	140453136	3	4	143	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3VD-01A-11D-A23M-08		140453136	18685527	8	3005											
CHPF2	54480	broad.mit.edu	37	chr7	150933593	150933593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgccgtgcaccctgtctccGaaggtaccctcatgtaccgg	10	16	2	0	rs143478285	byFrequency	TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr7:150933593G>A	ENST00000035307.2	+	3	2441	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	MIR671_ENST00000390183.1_RNA|CHPF2_ENST00000495645.1_Missense_Mutation_p.E302K	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	310					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						CCCTGTCTCCGAAGGTACCCT	0.562													G|||	3	0.000599042	0	0.0029	5008	,	,		20524	0		0.001	False		,,,				2504	0					ENST00000035307.2																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						c.(928-930)Gaa>Aaa		chondroitin polymerizing factor 2		G	LYS/GLU	3,4403	6.2+/-15.9	0,3,2200	59	50	53		928	5.6	1.0	7	dbSNP_134	53	18,8582	12.6+/-44.7	0,18,4282	yes	missense	CHPF2	NM_019015.1	56	0,21,6482	AA,AG,GG		0.2093,0.0681,0.1615	possibly-damaging	310/773	150933593	21,12985	2203	4300	6503	SO:0001583	missense	54480					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr7:150933593G>A	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.928G>A	7.37:g.150933593G>A	ENSP00000035307:p.Glu310Lys					CHPF2_ENST00000495645.1_Missense_Mutation_p.E302K	p.E310K	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN			3	2441	+			310					B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP	ENST00000035307.2	37	c.928G>A	CCDS34779.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	35	5.464152	0.96257	6.81E-4	0.002093	ENSG00000033100	ENST00000495645;ENST00000035307;ENST00000377851	T;T	0.14516	2.5;2.5	5.57	5.57	0.84162	.	0.243176	0.47852	D	0.000207	T	0.19805	0.0476	L	0.47716	1.5	0.58432	D	0.999998	P;P	0.51933	0.949;0.468	P;B	0.47573	0.55;0.089	T	0.00314	-1.1824	10	0.39692	T	0.17	-17.7744	16.6968	0.85338	0.0:0.0:1.0:0.0	.	310;302	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	K	302;310;310	ENSP00000418914:E302K;ENSP00000035307:E310K	ENSP00000035307:E310K	E	+	1	0	CHPF2	150564526	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	9.496000	0.97967	2.627000	0.88993	0.650000	0.86243	GAA		0.562	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	NM_019015		4	47	0	0	0	1	0	4	47					A	150933593	G	A	150933593	3	1	143	1	0	0	0	0	1	0	0	0	3369	1059	37	1	938	1	CHPF2	7	150933593	Missense_Mutation	SNP	G	TCGA-DJ-A3VD-01A-11D-A23M-08	10480457	150933593	8205070	9	3006											
MLL3	58508	broad.mit.edu	37	chr7	151933008	151933008	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccgctttcctggaaatccaGacccacggccctatgtaaca	7	15	0	1			TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr7:151933008G>A	ENST00000262189.6	-	16	2881	c.2663C>T	c.(2662-2664)tCt>tTt	p.S888F	KMT2C_ENST00000355193.2_Missense_Mutation_p.S888F	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	888					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGGAAATCCAGACCCACGGCC	0.453																																						ENST00000355193.2																			0											c.(2662-2664)tCt>tTt		lysine (K)-specific methyltransferase 2C							32	33	33					7																	151933008		2202	4298	6500	SO:0001583	missense	58508							g.chr7:151933008G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2663C>T	7.37:g.151933008G>A	ENSP00000262189:p.Ser888Phe					KMT2C_ENST00000262189.6_Missense_Mutation_p.S888F	p.S888F							16	2881	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2663C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.243507	0.58995	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.87412	-2.24;-2.25	5.1	5.1	0.69264	.	0.000000	0.42172	D	0.000746	D	0.92341	0.7570	M	0.63843	1.955	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.93043	0.6459	10	0.87932	D	0	.	17.0444	0.86498	0.0:0.0:1.0:0.0	.	888	Q8NEZ4	MLL3_HUMAN	F	888	ENSP00000262189:S888F;ENSP00000347325:S888F	ENSP00000262189:S888F	S	-	2	0	MLL3	151563941	1.000000	0.71417	0.953000	0.39169	0.963000	0.63663	7.232000	0.78116	2.530000	0.85305	0.650000	0.86243	TCT		0.453	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			7	100	0	0	0	1	0	7	100					A	151933008	G	A	151933008	3	1	143	1	0	0	0	0	1	0	0	0	9622	942	33	2	12248	2	MLL3	7	151933008	Missense_Mutation	SNP	G	TCGA-DJ-A3VD-01A-11D-A23M-08	999415	151933008	7205655	10	3007											
ABL1	25	broad.mit.edu	37	chr9	133759490	133759492	+	In_Frame_Del	DEL	AAG	AAG	-													acttgttcagcgccttgatcAagaagaagaagaagacagcc					rs201725154		TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr9:133759490_133759492delAAG	ENST00000318560.5	+	11	2194_2196	c.1813_1815delAAG	c.(1813-1815)aagdel	p.K609del		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	609	Poly-Lys.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	CGCCTTGATCAAGAAGAAGAAGA	0.616			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"T, Mis"	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"BCR, ETV6, NUP214"		"CML, ALL, T-ALL"		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(1813-1815)del		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)																																			SO:0001651	inframe_deletion	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133759490_133759492delAAG	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1813_1815delAAG	9.37:g.133759499_133759501delAAG	ENSP00000323315:p.Lys609del						p.K609del	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	11	2194_2196	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	609			Poly-Lys.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	In_Frame_Del	DEL	ENST00000318560.5	37	c.1813_1815delAAG	CCDS35166.1																																																																																				0.616	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		7	224						7	224	---	---	---	---	-	133759492	AAG	-	133759490	7	5	143	1	0	1	0	1	0	0	0	0	92	131	5	0	1995	0	ABL1	9	133759490	In_Frame_Del	DEL	AAG	TCGA-DJ-A3VD-01A-11D-A23M-08		133759490	7453941	11	3008											
ITGA7	3679	broad.mit.edu	37	chr12	56088657	56088657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatccccatcagcctgggGctgggctgggtccgatggca	14	13	2	0			TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr12:56088657G>A	ENST00000555728.1	-	16	2261	c.2233C>T	c.(2233-2235)Ccc>Tcc	p.P745S	ITGA7_ENST00000452168.2_Missense_Mutation_p.P608S|ITGA7_ENST00000553804.1_Missense_Mutation_p.P705S|ITGA7_ENST00000347027.6_Missense_Mutation_p.P695S|ITGA7_ENST00000257879.6_Missense_Mutation_p.P701S|ITGA7_ENST00000394230.2_Missense_Mutation_p.P705S|ITGA7_ENST00000257880.7_Missense_Mutation_p.P745S|ITGA7_ENST00000394229.2_Missense_Mutation_p.P701S			Q13683	ITA7_HUMAN	integrin, alpha 7	745					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TCAGCCTGGGGCTGGGCTGGG	0.622																																						ENST00000257880.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(2233-2235)Ccc>Tcc		integrin, alpha 7							61	58	59					12																	56088657		2203	4300	6503	SO:0001583	missense	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56088657G>A		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"Integrins"	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.2233C>T	12.37:g.56088657G>A	ENSP00000452387:p.Pro745Ser					ITGA7_ENST00000553804.1_Missense_Mutation_p.P705S|ITGA7_ENST00000452168.2_Missense_Mutation_p.P608S|ITGA7_ENST00000394229.2_Missense_Mutation_p.P701S|ITGA7_ENST00000394230.2_Missense_Mutation_p.P705S|ITGA7_ENST00000347027.6_Missense_Mutation_p.P695S|ITGA7_ENST00000555728.1_Missense_Mutation_p.P745S|ITGA7_ENST00000257879.6_Missense_Mutation_p.P701S	p.P745S			Q13683	ITA7_HUMAN			16	2452	-			745					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37	c.2233C>T		.	.	.	.	.	.	.	.	.	.	G	19.86	3.906046	0.72868	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000555728	T;T;T;T;T;T;T;T	0.68765	-0.35;-0.34;-0.28;0.1;-0.34;-0.34;-0.33;-0.35	4.8	4.8	0.61643	Integrin alpha-2 (1);	0.000000	0.64402	D	0.000001	T	0.78033	0.4220	M	0.66939	2.045	0.48288	D	0.999627	D;D;D;D	0.76494	0.998;0.999;0.998;0.999	D;D;D;D	0.75020	0.975;0.985;0.975;0.981	T	0.79130	-0.1930	10	0.56958	D	0.05	.	11.6083	0.51045	0.0:0.1804:0.8196:0.0	.	608;745;705;764	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	S	705;701;695;608;745;705;701;745	ENSP00000452120:P705S;ENSP00000257879:P701S;ENSP00000343009:P695S;ENSP00000393844:P608S;ENSP00000257880:P745S;ENSP00000377777:P705S;ENSP00000377776:P701S;ENSP00000452387:P745S	ENSP00000257879:P701S	P	-	1	0	ITGA7	54374924	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.666000	0.61554	2.378000	0.81104	0.555000	0.69702	CCC		0.622	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		12	47	0	0	0	1	0	12	47					A	56088657	G	A	56088657	3	1	143	1	0	0	0	0	1	0	0	0	7881	1203	42	2	1356	2	ITGA7	12	56088657	Missense_Mutation	SNP	G	TCGA-DJ-A3VD-01A-11D-A23M-08		56088657	77763238	12	3009											
C20orf185	359710	broad.mit.edu	37	chr20	31649627	31649627	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acagatgctcttcaaggtgcTtccgggactggtgagtgtgc	14	9	2	2	rs147720727	byFrequency	TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr20:31649627T>A	ENST00000375494.3	+	5	581	c.581T>A	c.(580-582)cTt>cAt	p.L194H		NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	194	Leu-rich.				innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										TTCAAGGTGCTTCCGGGACTG	0.627													T|||	2	0.000399361	0	0.0014	5008	,	,		18167	0		0.001	False		,,,				2504	0					ENST00000375494.3																			0											c.(580-582)cTt>cAt		BPI fold containing family B, member 3		T	HIS/LEU	1,4405	2.1+/-5.4	0,1,2202	131	105	114		581	4.7	1.0	20	dbSNP_134	114	20,8580	14.6+/-50.1	0,20,4280	yes	missense	BPIFB3	NM_182658.1	99	0,21,6482	AA,AT,TT		0.2326,0.0227,0.1615	possibly-damaging	194/477	31649627	21,12985	2203	4300	6503	SO:0001583	missense	359710				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	g.chr20:31649627T>A	AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"BPI fold containing"	16178	protein-coding gene	gene with protein product		615717	"chromosome 20 open reading frame 185"	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.581T>A	20.37:g.31649627T>A	ENSP00000364643:p.Leu194His						p.L194H	NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN			5	581	+			194			Leu-rich.		Q5TDX7	Missense_Mutation	SNP	ENST00000375494.3	37	c.581T>A	CCDS13212.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	T	19.28	3.796585	0.70567	2.27E-4	0.002326	ENSG00000186190	ENST00000375494	T	0.14893	2.47	4.69	4.69	0.59074	.	0.000000	0.43260	D	0.000598	T	0.33177	0.0854	M	0.63843	1.955	0.39242	D	0.963883	D	0.58620	0.983	P	0.60886	0.88	T	0.15896	-1.0421	10	0.87932	D	0	-10.292	10.4635	0.44594	0.0:0.0:0.0:1.0	.	194	P59826	BPIB3_HUMAN	H	194	ENSP00000364643:L194H	ENSP00000364643:L194H	L	+	2	0	BPIFB3	31113288	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	3.403000	0.52615	1.971000	0.57363	0.533000	0.62120	CTT		0.627	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658		4	53	0	0	0	1	0	4	53					A	31649627	T	A	31649627	3	1	143	1	0	0	0	0	1	0	0	0	2097	1609	56	5	599	5	C20orf185	20	31649627	Missense_Mutation	SNP	T	TCGA-DJ-A3VD-01A-11D-A23M-08		31649627	31375893	13	3010											
AIRE	326	broad.mit.edu	37	chr21	45710772	45710772	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcccaatagggatggcccCggggggtgtctgttggagac	16	10	1	1			TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr21:45710772C>T	ENST00000291582.5	+	8	1006				AIRE_ENST00000355347.4_Missense_Mutation_p.P28L|AIRE_ENST00000329347.4_Missense_Mutation_p.P28L	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator						humoral immune response (GO:0006959)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|transcription regulatory region DNA binding (GO:0044212)|translation regulator activity (GO:0045182)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GGGATGGCCCCGGGGGGTGTC	0.602									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy																													ENST00000355347.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14						c.(82-84)cCg>cTg		autoimmune regulator							58	69	65					21																	45710772		2203	4299	6502	SO:0001627	intron_variant	326	Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy	Familial Cancer Database	APECED	positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding	g.chr21:45710772C>T	AB006684	CCDS13706.1	21q22.3	2014-09-17	2007-06-20		ENSG00000160224	ENSG00000160224		"Zinc fingers, PHD-type"	360	protein-coding gene	gene with protein product	"autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"	607358	"autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)"	APECED		9398840	Standard	NM_000383		Approved	PGA1, APS1	uc002zei.3	O43918	OTTHUMG00000086921	ENST00000291582.5:c.880-206C>T	21.37:g.45710772C>T						AIRE_ENST00000329347.4_Missense_Mutation_p.P28L|AIRE_ENST00000291582.5_Intron	p.P28L			O43918	AIRE_HUMAN		Colorectal(79;0.0806)	1	83	+			360		L -> P (in APECED; abolishes association with cytoplasmic tubular structures and homodimerization).	HSR.		B2RP50|O43922|O43932|O75745	Missense_Mutation	SNP	ENST00000291582.5	37	c.83C>T	CCDS13706.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.113965	0.37339	.	.	ENSG00000160224	ENST00000337909;ENST00000397994;ENST00000355347;ENST00000329347	D;D	0.96334	-3.92;-3.98	2.16	-4.32	0.03688	.	.	.	.	.	D	0.86920	0.6049	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.74494	-0.3647	9	0.87932	D	0	.	1.0961	0.01673	0.1485:0.2239:0.3521:0.2755	.	28	B2RP50	.	L	28	ENSP00000347505:P28L;ENSP00000331055:P28L	ENSP00000331055:P28L	P	+	2	0	AIRE	44535200	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.811000	0.04500	-1.457000	0.01919	-0.481000	0.04817	CCG		0.602	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195842.2			12	136	0	0	0	1	0	12	136					T	45710772	C	T	45710772	1	4	143	0	1	0	0	0	0	0	0	0	437	652	23	1		1	AIRE	21	45710772	Intron	SNP	C	TCGA-DJ-A3VD-01A-11D-A23M-08		45710772	2419123	14	3011											
TCN2	6948	broad.mit.edu	37	chr22	31011296	31011296	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccccacttcaagacacagcaGccatggcaggcttggcattc	9	15	1	1			TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr22:31011296G>T	ENST00000215838.3	+	5	1083	c.589G>T	c.(589-591)Gcc>Tcc	p.A197S	TCN2_ENST00000407817.3_Missense_Mutation_p.A170S|TCN2_ENST00000405742.3_Missense_Mutation_p.A193S			P20062	TCO2_HUMAN	transcobalamin II	197					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGACACAGCAGCCATGGCAGG	0.567																																						ENST00000215838.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22						c.(589-591)Gcc>Tcc		transcobalamin II	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						67	62	64					22																	31011296		2203	4300	6503	SO:0001583	missense	6948				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding	g.chr22:31011296G>T		CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"macrocytic anemia"	613441	"transcobalamin II; macrocytic anemia"			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.589G>T	22.37:g.31011296G>T	ENSP00000215838:p.Ala197Ser					TCN2_ENST00000407817.3_Missense_Mutation_p.A170S|TCN2_ENST00000405742.3_Missense_Mutation_p.A193S	p.A197S			P20062	TCO2_HUMAN			5	1083	+			197					Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Missense_Mutation	SNP	ENST00000215838.3	37	c.589G>T	CCDS13881.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910946	0.72983	.	.	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	T;T;T	0.62941	-0.01;-0.01;-0.01	5.82	5.82	0.92795	.	0.047328	0.85682	D	0.000000	T	0.81123	0.4757	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.998;0.999;0.999	T	0.82246	-0.0552	10	0.56958	D	0.05	-28.6925	17.0097	0.86403	0.0:0.0:1.0:0.0	.	170;193;197	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	S	197;193;170	ENSP00000215838:A197S;ENSP00000385914:A193S;ENSP00000384914:A170S	ENSP00000215838:A197S	A	+	1	0	TCN2	29341296	1.000000	0.71417	0.963000	0.40424	0.382000	0.30200	5.643000	0.67895	2.756000	0.94617	0.561000	0.74099	GCC		0.567	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321282.2	NM_000355		7	92	1	0	0.00448238	1	0.0047103	7	92					T	31011296	G	T	31011296	3	4	143	1	0	0	0	0	1	0	0	0	15704	971	34	4	607	4	TCN2	22	31011296	Missense_Mutation	SNP	G	TCGA-DJ-A3VD-01A-11D-A23M-08		31011296	20293270	15	3012											
NAP1L3	4675	broad.mit.edu	37	chrX	92928115	92928135	+	In_Frame_Del	DEL	GCTGCTGCTGCTGCCGCTGCC	GCTGCTGCTGCTGCCGCTGCC	-													ctgctagtgctgccgctgctGctgctgctgctgccgctgcc					rs190447192		TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chrX:92928115_92928135delGCTGCTGCTGCTGCCGCTGCC	ENST00000373079.3	-	1	432_452	c.169_189delGGCAGCGGCAGCAGCAGCAGC	c.(169-189)ggcagcggcagcagcagcagcdel	p.GSGSSSS57del	FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000322139.4_5'Flank|NAP1L3_ENST00000475430.2_In_Frame_Del_p.GSGSSSS50del|FAM133A_ENST00000538690.1_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	57	Ser-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						tgccgctgctgctgctgctgctgccgctgccgctgctgctg	0.597														29	0.00768212	0	0.0331	3775	,	,		11040	0.002		0	False		,,,				2504	0.0041					ENST00000373079.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(169-189)del		nucleosome assembly protein 1-like 3				167,2764		52,33,30,1183,365						-0.8	0.1			9	232,4911		52,50,78,1831,1199	no	coding	NAP1L3	NM_004538.5		104,83,108,3014,1564	A1A1,A1R,A1,RR,R		4.511,5.6977,4.9418				399,7675				SO:0001651	inframe_deletion	4675				nucleosome assembly	chromatin assembly complex		g.chrX:92928115_92928135delGCTGCTGCTGCTGCCGCTGCC		CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.169_189delGGCAGCGGCAGCAGCAGCAGC	X.37:g.92928115_92928135delGCTGCTGCTGCTGCCGCTGCC	ENSP00000362171:p.Gly57_Ser63del					NAP1L3_ENST00000475430.1_5'UTR	p.GSGSSSS57del	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN			1	432_452	-			57			Ser-rich.		B2RCM0|O60788	In_Frame_Del	DEL	ENST00000373079.3	37	c.169_189delGGCAGCGGCAGCAGCAGCAGC	CCDS14465.1																																																																																				0.597	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		24	34						24	34	---	---	---	---	-	92928135	GCTGCTGCTGCTGCCGCTGCC	-	92928115	7	5	143	1	0	1	0	1	0	0	0	0	10158	1310	46	0	1335	0	NAP1L3	23	92928115	In_Frame_Del	DEL	GCTGCTGCTGCTGCCGCTGCC	TCGA-DJ-A3VD-01A-11D-A23M-08		92928115	62342445	16	3013											
NBPF10	100132406	broad.mit.edu	37	chr1	145324377	145324377	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagctgctggaggtagtagCgcctgaagtcttgcaggact	16	8	1	1	rs77113202		TCGA-DJ-A3VE-01A-11D-A23M-08	TCGA-DJ-A3VE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	749bbead-26b4-4262-9bcf-f9c209a45bfb	1178e2e9-37c4-4111-80ac-e57b675025bb	g.chr1:145324377C>A	ENST00000342960.5	+	28	3607	c.3572C>A	c.(3571-3573)gCg>gAg	p.A1191E	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	778						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAGGTAGTAGCGCCTGAAGTC	0.483																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(3571-3573)gCg>gAg		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145324377C>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.3572C>A	1.37:g.145324377C>A	ENSP00000345684:p.Ala1191Glu					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.A1191E	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	28	3607	+	all_hematologic(923;0.032)		1191					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.3572C>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.756002	0.00085	.	.	ENSG00000163386	ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00144	0.0004	N	0.00162	-1.95	0.09310	N	1	.	.	.	.	.	.	T	0.40534	-0.9558	5	0.02654	T	1	.	.	.	.	.	.	.	.	E	1191	ENSP00000345684:A1191E	ENSP00000345684:A1191E	A	+	2	0	NBPF10	144035734	0.004000	0.15560	0.001000	0.08648	0.000000	0.00434	0.161000	0.16481	-1.406000	0.02045	0.000000	0.15137	GCG		0.483	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		3	4	1	0	6.4e-05	1	6.4e-05	3	4					A	145324377	C	A	145324377	3	1	144	1	0	0	0	0	1	0	0	0	10193	768	27	4	3682	4	NBPF10	1	145324377	Missense_Mutation	SNP	C	TCGA-DJ-A3VE-01A-11D-A23M-08		145324377	103926244	1	3014											
DHX36	170506	broad.mit.edu	37	chr3	154033843	154033843	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgtacccatgatcctcaggaGcaaaccaggatatctgtgct	9	12	2	1			TCGA-DJ-A3VE-01A-11D-A23M-08	TCGA-DJ-A3VE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	749bbead-26b4-4262-9bcf-f9c209a45bfb	1178e2e9-37c4-4111-80ac-e57b675025bb	g.chr3:154033843G>C	ENST00000496811.1	-	2	433	c.353C>G	c.(352-354)gCt>gGt	p.A118G	DHX36_ENST00000308361.6_Missense_Mutation_p.A118G|DHX36_ENST00000544526.1_Missense_Mutation_p.A118G|DHX36_ENST00000329463.5_Missense_Mutation_p.A118G	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	118					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			ATCCTCAGGAGCAAACCAGGA	0.333																																						ENST00000496811.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(352-354)gCt>gGt		DEAH (Asp-Glu-Ala-His) box polypeptide 36							121	109	113					3																	154033843		2203	4300	6503	SO:0001583	missense	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154033843G>C	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"DEAH-boxes"	14410	protein-coding gene	gene with protein product		612767	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.353C>G	3.37:g.154033843G>C	ENSP00000417078:p.Ala118Gly					DHX36_ENST00000308361.6_Missense_Mutation_p.A118G|DHX36_ENST00000544526.1_Missense_Mutation_p.A118G|DHX36_ENST00000329463.5_Missense_Mutation_p.A118G	p.A118G	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		2	433	-			118					B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	c.353C>G	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	G	9.784	1.176202	0.21704	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	D;D;D;D;T	0.91124	-2.79;-2.79;-2.79;-2.79;4.06	5.58	4.68	0.58851	.	0.566392	0.19635	N	0.109582	T	0.80686	0.4670	N	0.08118	0	0.31553	N	0.658563	B;B;B	0.27068	0.082;0.167;0.049	B;B;B	0.28011	0.058;0.085;0.026	T	0.77000	-0.2750	10	0.24483	T	0.36	.	12.8514	0.57860	0.0:0.0:0.7042:0.2958	.	118;118;118	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	G	118;118;118;118;32	ENSP00000417078:A118G;ENSP00000309296:A118G;ENSP00000444247:A118G;ENSP00000330113:A118G;ENSP00000419862:A32G	ENSP00000309296:A118G	A	-	2	0	DHX36	155516537	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.009000	0.63998	1.294000	0.44707	0.637000	0.83480	GCT		0.333	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		12	53	0	0	0	1	0	12	53					C	154033843	G	C	154033843	3	2	144	1	0	0	0	0	1	0	0	0	4509	971	34	4	2769	4	DHX36	3	154033843	Missense_Mutation	SNP	G	TCGA-DJ-A3VE-01A-11D-A23M-08		154033843	43988587	2	3015											
BMP6	654	broad.mit.edu	37	chr6	7862663	7862663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaggtcagcctccagccGgcgccgacaacagagtcgta	11	16	1	1			TCGA-DJ-A3VE-01A-11D-A23M-08	TCGA-DJ-A3VE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	749bbead-26b4-4262-9bcf-f9c209a45bfb	1178e2e9-37c4-4111-80ac-e57b675025bb	g.chr6:7862663G>A	ENST00000283147.6	+	4	1295	c.1136G>A	c.(1135-1137)cGg>cAg	p.R379Q		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	379					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					GCCTCCAGCCGGCGCCGACAA	0.607																																						ENST00000283147.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23						c.(1135-1137)cGg>cAg		bone morphogenetic protein 6							65	65	65					6																	7862663		2203	4300	6503	SO:0001583	missense	654				BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	g.chr6:7862663G>A	AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"Bone morphogenetic proteins", "Endogenous ligands"	1073	protein-coding gene	gene with protein product		112266	"vegetal related growth factor (TGFB-related)"	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.1136G>A	6.37:g.7862663G>A	ENSP00000283147:p.Arg379Gln						p.R379Q	NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN			4	1295	+	Ovarian(93;0.0721)		379					Q5TCP3	Missense_Mutation	SNP	ENST00000283147.6	37	c.1136G>A	CCDS4503.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862836	0.91511	.	.	ENSG00000153162	ENST00000537240;ENST00000283147;ENST00000540959	T	0.74209	-0.82	5.8	5.8	0.92144	.	0.058336	0.64402	D	0.000002	T	0.56659	0.2000	M	0.63428	1.95	0.46564	D	0.999107	P	0.34462	0.454	B	0.20384	0.029	T	0.62144	-0.6916	10	0.40728	T	0.16	.	13.2791	0.60205	0.0719:0.0:0.928:0.0	.	379	P22004	BMP6_HUMAN	Q	301;379;342	ENSP00000283147:R379Q	ENSP00000283147:R379Q	R	+	2	0	BMP6	7807662	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	5.387000	0.66243	2.735000	0.93741	0.655000	0.94253	CGG		0.607	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1	NM_001718		8	136	0	0	0	1	0	8	136					A	7862663	G	A	7862663	3	1	144	1	0	0	0	0	1	0	0	0	1464	1116	39	1	1150	1	BMP6	6	7862663	Missense_Mutation	SNP	G	TCGA-DJ-A3VE-01A-11D-A23M-08		7862663	163252404	3	3016											
COL12A1	1303	broad.mit.edu	37	chr6	75884986	75884986	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gataatttcatagtagacgtCgtagggtcagaaactcttaa	9	6	3	2			TCGA-DJ-A3VE-01A-11D-A23M-08	TCGA-DJ-A3VE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	749bbead-26b4-4262-9bcf-f9c209a45bfb	1178e2e9-37c4-4111-80ac-e57b675025bb	g.chr6:75884986C>T	ENST00000322507.8	-	13	2787	c.2478G>A	c.(2476-2478)acG>acA	p.T826T	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Silent_p.T826T|COL12A1_ENST00000416123.2_Silent_p.T826T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	826	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TAGTAGACGTCGTAGGGTCAG	0.393																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(2476-2478)acG>acA		collagen, type XII, alpha 1							107	101	103					6																	75884986		1857	4085	5942	SO:0001819	synonymous_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75884986C>T	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.2478G>A	6.37:g.75884986C>T						COL12A1_ENST00000416123.2_Silent_p.T826T|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Silent_p.T826T	p.T826T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			13	2787	-			826			Fibronectin type-III 5.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	c.2478G>A	CCDS43482.1																																																																																				0.393	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		15	122	0	0	0	1	0	15	122					T	75884986	C	T	75884986	2	4	144	1	0	0	0	0	0	0	0	1	3669	871	31	1		1	COL12A1	6	75884986	Silent	SNP	C	TCGA-DJ-A3VE-01A-11D-A23M-08	68022323	75884986	95230081	4	3017											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3VE-01A-11D-A23M-08	TCGA-DJ-A3VE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	749bbead-26b4-4262-9bcf-f9c209a45bfb	1178e2e9-37c4-4111-80ac-e57b675025bb	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		39	91	0	0	0	1	0	39	91					T	140453136	A	T	140453136	3	4	144	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3VE-01A-11D-A23M-08		140453136	18685527	5	3018											
DERL1	79139	broad.mit.edu	37	chr8	124034940	124034940	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaccttaaatcgtgttccaAaccaaaatgatacaatcatg	5	9	1	1			TCGA-DJ-A3VE-01A-11D-A23M-08	TCGA-DJ-A3VE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	749bbead-26b4-4262-9bcf-f9c209a45bfb	1178e2e9-37c4-4111-80ac-e57b675025bb	g.chr8:124034940A>G	ENST00000259512.4	-	5	737	c.437T>C	c.(436-438)tTt>tCt	p.F146S	DERL1_ENST00000523036.1_Missense_Mutation_p.F46S|DERL1_ENST00000419562.2_Intron|DERL1_ENST00000405944.3_Missense_Mutation_p.F146S|DERL1_ENST00000519018.1_Missense_Mutation_p.F46S|RP11-557C18.3_ENST00000521258.1_RNA	NM_001134671.2|NM_024295.5	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	146					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|intracellular transport of viral protein in host cell (GO:0019060)|response to unfolded protein (GO:0006986)|retrograde protein transport, ER to cytosol (GO:0030970)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)	MHC class I protein binding (GO:0042288)|receptor activity (GO:0004872)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TCGTGTTCCAAACCAAAATGA	0.413											OREG0018957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000259512.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8						c.(436-438)tTt>tCt		derlin 1							215	191	199					8																	124034940		2203	4300	6503	SO:0001583	missense	79139				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity	g.chr8:124034940A>G	BC002457	CCDS6337.1, CCDS47915.1	8q24.13	2012-02-01	2012-02-01		ENSG00000136986	ENSG00000136986			28454	protein-coding gene	gene with protein product		608813	"Der1-like domain family, member 1"			12975309, 15215855	Standard	NM_024295		Approved	MGC3067, PRO2577, FLJ13784, DER1, DER-1, derlin-1	uc003ypl.3	Q9BUN8	OTTHUMG00000165080	ENST00000259512.4:c.437T>C	8.37:g.124034940A>G	ENSP00000259512:p.Phe146Ser		OREG0018957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1531	DERL1_ENST00000419562.2_Intron|DERL1_ENST00000405944.3_Missense_Mutation_p.F146S|DERL1_ENST00000523036.1_Missense_Mutation_p.F46S|RP11-557C18.3_ENST00000521258.1_RNA|DERL1_ENST00000519018.1_Missense_Mutation_p.F46S	p.F146S	NM_001134671.1|NM_024295.4	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		5	737	-	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		146					B3KW41|E9PH19	Missense_Mutation	SNP	ENST00000259512.4	37	c.437T>C	CCDS6337.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.334388	0.81801	.	.	ENSG00000136986	ENST00000259512;ENST00000405944;ENST00000519018;ENST00000523036	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.68	5.68	0.88126	.	0.089656	0.85682	D	0.000000	T	0.60818	0.2298	M	0.91196	3.185	0.80722	D	1	D;D	0.60160	0.958;0.987	D;D	0.72338	0.913;0.977	T	0.65545	-0.6142	10	0.11794	T	0.64	.	15.9239	0.79597	1.0:0.0:0.0:0.0	.	146;146	Q9BUN8-2;Q9BUN8	.;DERL1_HUMAN	S	146;146;46;46	ENSP00000259512:F146S;ENSP00000384289:F146S;ENSP00000430086:F46S;ENSP00000429199:F46S	ENSP00000259512:F146S	F	-	2	0	DERL1	124104121	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.938000	0.92943	2.170000	0.68504	0.533000	0.62120	TTT		0.413	DERL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381714.2	NM_024295		82	164	0	0	0	1	0	82	164					G	124034940	A	G	124034940	3	3	144	1	0	0	0	0	1	0	0	0	4446	14	1	3	334	3	DERL1	8	124034940	Missense_Mutation	SNP	A	TCGA-DJ-A3VE-01A-11D-A23M-08		124034940	22329082	6	3019											
C9orf125	84302	broad.mit.edu	37	chr9	104238214	104238214	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactggagaagagcccgatGtgtttcacgaggttcggctc	14	9	1	3			TCGA-DJ-A3VE-01A-11D-A23M-08	TCGA-DJ-A3VE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	749bbead-26b4-4262-9bcf-f9c209a45bfb	1178e2e9-37c4-4111-80ac-e57b675025bb	g.chr9:104238214G>A	ENST00000374851.1	-	4	2308	c.1161C>T	c.(1159-1161)caC>caT	p.H387H	RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA|TMEM246_ENST00000374848.3_Silent_p.H387H|RP11-490D19.6_ENST00000450109.1_RNA|TMEM246_ENST00000374847.1_Silent_p.H387H			Q9BRR3	TM246_HUMAN	transmembrane protein 246	387						integral component of membrane (GO:0016021)											AGAGCCCGATGTGTTTCACGA	0.527																																						ENST00000374851.1																			0											c.(1159-1161)caC>caT		transmembrane protein 246							103	100	101					9																	104238214		2203	4300	6503	SO:0001819	synonymous_variant	84302					integral to membrane		g.chr9:104238214G>A	BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 125"	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.1161C>T	9.37:g.104238214G>A						TMEM246_ENST00000374848.3_Silent_p.H387H|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|TMEM246_ENST00000374847.1_Silent_p.H387H	p.H387H			Q9BRR3	CI125_HUMAN			4	2308	-			387					Q49AQ4	Silent	SNP	ENST00000374851.1	37	c.1161C>T	CCDS6757.1																																																																																				0.527	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053444.1	NM_032342		24	130	0	0	0	1	0	24	130					A	104238214	G	A	104238214	2	1	144	1	0	0	0	0	0	0	0	1	2454	1368	48	2		2	C9orf125	9	104238214	Silent	SNP	G	TCGA-DJ-A3VE-01A-11D-A23M-08		104238214	36975217	7	3020											
STXBP1	6812	broad.mit.edu	37	chr9	130374691	130374691	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcgcgcagcgccatggccccCattggcctcaaagctgttgt	11	15	1	0			TCGA-DJ-A3VE-01A-11D-A23M-08	TCGA-DJ-A3VE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	749bbead-26b4-4262-9bcf-f9c209a45bfb	1178e2e9-37c4-4111-80ac-e57b675025bb	g.chr9:130374691C>G	ENST00000373299.1	+	1	124	c.9C>G	c.(7-9)ccC>ccG	p.P3P	STXBP1_ENST00000373302.3_Silent_p.P3P	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	3					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						CCATGGCCCCCATTGGCCTCA	0.741																																						ENST00000373302.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						c.(7-9)ccC>ccG		syntaxin binding protein 1							28	21	23					9																	130374691		2198	4289	6487	SO:0001819	synonymous_variant	6812				axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	g.chr9:130374691C>G	AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"syntaxin-binding protein 1"	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.9C>G	9.37:g.130374691C>G						STXBP1_ENST00000373299.1_Silent_p.P3P	p.P3P	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN			1	148	+			3					B1AM97|Q28208|Q62759|Q64320|Q96TG8	Silent	SNP	ENST00000373299.1	37	c.9C>G	CCDS35146.1																																																																																				0.741	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	NM_003165		2	14	0	0	0	1	0	2	14					G	130374691	C	G	130374691	2	3	144	1	0	0	0	0	0	0	0	1	15351	581	21	4		4	STXBP1	9	130374691	Silent	SNP	C	TCGA-DJ-A3VE-01A-11D-A23M-08	26136477	130374691	10838740	8	3021											
CACNA1B	774	broad.mit.edu	37	chr9	140777318	140777318	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggctggaacgtcatggacttCgtggtcgtcctcacagggta	14	10	2	0	rs200076426		TCGA-DJ-A3VE-01A-11D-A23M-08	TCGA-DJ-A3VE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	749bbead-26b4-4262-9bcf-f9c209a45bfb	1178e2e9-37c4-4111-80ac-e57b675025bb	g.chr9:140777318C>T	ENST00000371372.1	+	3	658	c.513C>T	c.(511-513)ttC>ttT	p.F171F	CACNA1B_ENST00000277551.2_Silent_p.F171F|RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000371363.1_Silent_p.F171F|CACNA1B_ENST00000371355.4_Silent_p.F171F|CACNA1B_ENST00000371357.1_Silent_p.F171F|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	171					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TCATGGACTTCGTGGTCGTCC	0.607																																						ENST00000371372.1																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(511-513)ttC>ttT		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						173	187	183					9																	140777318		2126	4253	6379	SO:0001819	synonymous_variant	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140777318C>T	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.513C>T	9.37:g.140777318C>T						CACNA1B_ENST00000371355.4_Silent_p.F171F|CACNA1B_ENST00000371357.1_Silent_p.F171F|CACNA1B_ENST00000371363.1_Silent_p.F171F|RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000277551.2_Silent_p.F171F|CACNA1B_ENST00000277549.5_5'UTR	p.F171F	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	3	658	+	all_cancers(76;0.166)		171					B1AQK5	Silent	SNP	ENST00000371372.1	37	c.513C>T	CCDS59522.1																																																																																				0.607	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		25	350	0	0	0	1	0	25	350					T	140777318	C	T	140777318	2	4	144	1	0	0	0	0	0	0	0	1	2539	883	31	1		1	CACNA1B	9	140777318	Silent	SNP	C	TCGA-DJ-A3VE-01A-11D-A23M-08	10402627	140777318	436113	9	3022											
PSAP	5660	broad.mit.edu	37	chr10	73587777	73587777	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacacaaggctcactatgtcGgccatgccagggcccaggcg	13	14	1	0	rs141199649	byFrequency	TCGA-DJ-A3VE-01A-11D-A23M-08	TCGA-DJ-A3VE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	749bbead-26b4-4262-9bcf-f9c209a45bfb	1178e2e9-37c4-4111-80ac-e57b675025bb	g.chr10:73587777G>A	ENST00000394936.3	-	6	861	c.714C>T	c.(712-714)gcC>gcT	p.A238A	PSAP_ENST00000394934.1_Silent_p.A238A			P07602	SAP_HUMAN	prosaposin	238	Saposin B-type 2. {ECO:0000255|PROSITE- ProRule:PRU00415}.				blood coagulation (GO:0007596)|cellular response to organic substance (GO:0071310)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|glycosphingolipid metabolic process (GO:0006687)|lipid transport (GO:0006869)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catalytic activity (GO:0043085)|prostate gland growth (GO:0060736)|regulation of lipid metabolic process (GO:0019216)|regulation of MAPK cascade (GO:0043408)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|lipid binding (GO:0008289)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						TCACTATGTCGGCCATGCCAG	0.572																																						ENST00000394936.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						c.(712-714)gcC>gcT		prosaposin							104	77	86					10																	73587777		2203	4300	6503	SO:0001819	synonymous_variant	5660				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding	g.chr10:73587777G>A	BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746		"Endogenous ligands"	9498	protein-coding gene	gene with protein product	"variant Gaucher disease and variant metachromatic leukodystrophy"	176801	"sphingolipid activator protein-1"	SAP1, GLBA		2717620	Standard	NM_001042465		Approved		uc001jsm.3	P07602	OTTHUMG00000018429	ENST00000394936.3:c.714C>T	10.37:g.73587777G>A						PSAP_ENST00000394934.1_Silent_p.A238A	p.A238A			P07602	SAP_HUMAN			6	861	-			238			Saposin B-type 2.		P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Silent	SNP	ENST00000394936.3	37	c.714C>T	CCDS7311.1																																																																																				0.572	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1	NM_002778		6	79	0	0	0	1	0	6	79					A	73587777	G	A	73587777	2	1	144	1	0	0	0	0	0	0	0	1	12643	1103	39	1		1	PSAP	10	73587777	Silent	SNP	G	TCGA-DJ-A3VE-01A-11D-A23M-08		73587777	61946970	10	3023											
OR4S1	256148	broad.mit.edu	37	chr11	48328468	48328468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagtcatctgaggaccggCgtaaggctgtctccacatgt	12	12	3	1			TCGA-DJ-A3VE-01A-11D-A23M-08	TCGA-DJ-A3VE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	749bbead-26b4-4262-9bcf-f9c209a45bfb	1178e2e9-37c4-4111-80ac-e57b675025bb	g.chr11:48328468C>T	ENST00000319988.1	+	1	694	c.694C>T	c.(694-696)Cgt>Tgt	p.R232C		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGAGGACCGGCGTAAGGCTGT	0.478																																						ENST00000319988.1																			0				endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						c.(694-696)Cgt>Tgt		olfactory receptor, family 4, subfamily S, member 1							211	191	198					11																	48328468		2201	4298	6499	SO:0001583	missense	256148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48328468C>T	AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"GPCR / Class A : Olfactory receptors"	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.694C>T	11.37:g.48328468C>T	ENSP00000321447:p.Arg232Cys						p.R232C	NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN			1	694	+			232					Q6IFB4	Missense_Mutation	SNP	ENST00000319988.1	37	c.694C>T	CCDS31488.1	.	.	.	.	.	.	.	.	.	.	C	5.337	0.247435	0.10130	.	.	ENSG00000176555	ENST00000319988	T	0.00164	8.64	5.02	1.91	0.25777	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00144	0.0004	L	0.48362	1.52	0.09310	N	1	B	0.22276	0.067	B	0.27170	0.077	T	0.33343	-0.9872	9	0.59425	D	0.04	.	3.1116	0.06360	0.1932:0.5271:0.0:0.2797	.	232	Q8NGB4	OR4S1_HUMAN	C	232	ENSP00000321447:R232C	ENSP00000321447:R232C	R	+	1	0	OR4S1	48285044	0.000000	0.05858	0.007000	0.13788	0.004000	0.04260	-0.093000	0.11111	1.248000	0.43934	0.655000	0.94253	CGT		0.478	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1	NM_001004725		9	269	0	0	0	1	0	9	269					T	48328468	C	T	48328468	3	4	144	1	0	0	0	0	1	0	0	0	11082	768	27	1	696	1	OR4S1	11	48328468	Missense_Mutation	SNP	C	TCGA-DJ-A3VE-01A-11D-A23M-08		48328468	86678048	11	3024											
DLG2	1740	broad.mit.edu	37	chr11	83173135	83173135	+	Splice_Site	DEL	C	C	-													tgttagacgcttattcatctCcctgggaaaatgagggtttg							TCGA-DJ-A3VE-01A-11D-A23M-08	TCGA-DJ-A3VE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	749bbead-26b4-4262-9bcf-f9c209a45bfb	1178e2e9-37c4-4111-80ac-e57b675025bb	g.chr11:83173135delC	ENST00000532653.1	-	22	2664	c.2362delG	c.(2362-2364)gag>ag	p.E788fs	DLG2_ENST00000426717.2_Splice_Site_p.E270fs|DLG2_ENST00000524982.1_Splice_Site_p.E802fs|DLG2_ENST00000376106.3_Splice_Site_p.E270fs|DLG2_ENST00000330014.6_Splice_Site_p.E727fs|DLG2_ENST00000280241.8_Splice_Site_p.E845fs|DLG2_ENST00000398309.2_Splice_Site_p.E806fs|DLG2_ENST00000543673.1_Splice_Site_p.E911fs|DLG2_ENST00000418306.2_Splice_Site_p.E685fs|DLG2_ENST00000376104.2_Splice_Site_p.E911fs|DLG2_ENST00000537455.1_Splice_Site_p.E556fs|DLG2_ENST00000404783.3_Splice_Site_p.E284fs|DLG2_ENST00000531015.1_Splice_Site_p.E773fs			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	502					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TTATTCATCTCCCTGGGAAAA	0.333																																						ENST00000398309.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.e22-1		discs, large homolog 2 (Drosophila)							126	117	120					11																	83173135		1874	4136	6010	SO:0001630	splice_region_variant	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	g.chr11:83173135delC	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	2901	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 58"	603583	"discs, large homolog 2, chapsyn-110 (Drosophila)"			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.2361-1G>-	11.37:g.83173135delC						DLG2_ENST00000543673.1_Splice_Site_p.E911_splice|DLG2_ENST00000418306.2_Splice_Site_p.E685_splice|DLG2_ENST00000531015.1_Splice_Site_p.E773_splice|DLG2_ENST00000426717.2_Splice_Site_p.E270_splice|DLG2_ENST00000376104.2_Splice_Site_p.E911_splice|DLG2_ENST00000376106.3_Splice_Site_p.E270_splice|DLG2_ENST00000537455.1_Splice_Site_p.E556_splice|DLG2_ENST00000330014.6_Splice_Site_p.E727_splice|DLG2_ENST00000280241.8_Splice_Site_p.E845_splice|DLG2_ENST00000404783.3_Splice_Site_p.E284_splice|DLG2_ENST00000524982.1_Splice_Site_p.E802_splice|DLG2_ENST00000532653.1_Splice_Site_p.E788_splice	p.E806_splice	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN			22	2886	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	806			Guanylate kinase-like.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Splice_Site	DEL	ENST00000532653.1	37	c.2414_splice																																																																																					0.333	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364	Frame_Shift_Del	7	142						7	142	---	---	---	---	-	83173135	C	-	83173135	8	5	144	1	0	1	0	1	0	0	1	0	4555	869	30	0	204	0	DLG2	11	83173135	Splice_Site	DEL	C	TCGA-DJ-A3VE-01A-11D-A23M-08	34844667	83173135	51833381	12	3025											
VPS4B	9525	broad.mit.edu	37	chr18	61077535	61077535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacgtaccccttctcatctGctggactcggctgtccttct	7	16	3	0			TCGA-DJ-A3VE-01A-11D-A23M-08	TCGA-DJ-A3VE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	749bbead-26b4-4262-9bcf-f9c209a45bfb	1178e2e9-37c4-4111-80ac-e57b675025bb	g.chr18:61077535G>A	ENST00000238497.5	-	3	487	c.284C>T	c.(283-285)gCa>gTa	p.A95V	VPS4B_ENST00000591519.1_Missense_Mutation_p.A95V	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	95					ATP catabolic process (GO:0006200)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|intracellular cholesterol transport (GO:0032367)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|response to lipid (GO:0033993)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)|vacuolar membrane (GO:0005774)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						CTTCTCATCTGCTGGACTCGG	0.358																																						ENST00000238497.5																			0				breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						c.(283-285)gCa>gTa		vacuolar protein sorting 4 homolog B (S. cerevisiae)							217	202	207					18																	61077535		2203	4300	6503	SO:0001583	missense	9525				cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding	g.chr18:61077535G>A	AF038960	CCDS11983.1	18q21.33	2010-04-21	2006-04-04	2002-06-14	ENSG00000119541	ENSG00000119541		"ATPases / AAA-type"	10895	protein-coding gene	gene with protein product		609983	"suppressor of K+ transport defect 1", "vacuolar protein sorting 4B (yeast)"	SKD1		11563910	Standard	XM_006722582		Approved	VPS4-2, SKD1B	uc002lix.3	O75351	OTTHUMG00000132790	ENST00000238497.5:c.284C>T	18.37:g.61077535G>A	ENSP00000238497:p.Ala95Val					VPS4B_ENST00000591519.1_Missense_Mutation_p.A95V	p.A95V	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN			3	487	-			95					Q69HW4|Q9GZS7	Missense_Mutation	SNP	ENST00000238497.5	37	c.284C>T	CCDS11983.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.506797	0.26949	.	.	ENSG00000119541	ENST00000238497	D	0.93906	-3.31	5.63	3.76	0.43208	.	0.446123	0.25458	N	0.030535	D	0.87216	0.6122	N	0.25647	0.755	0.34374	D	0.692331	B;B	0.11235	0.004;0.001	B;B	0.10450	0.005;0.005	D	0.85892	0.1429	10	0.36615	T	0.2	-9.0418	10.4142	0.44311	0.0748:0.1347:0.7905:0.0	.	95;95	A8K4G7;O75351	.;VPS4B_HUMAN	V	95	ENSP00000238497:A95V	ENSP00000238497:A95V	A	-	2	0	VPS4B	59228515	0.990000	0.36364	0.923000	0.36655	0.522000	0.34438	2.463000	0.45058	1.363000	0.46019	0.655000	0.94253	GCA		0.358	VPS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256198.2	NM_004869		110	187	0	0	0	1	0	110	187					A	61077535	G	A	61077535	3	1	144	1	0	0	0	0	1	0	0	0	17210	1319	46	2	1086	2	VPS4B	18	61077535	Missense_Mutation	SNP	G	TCGA-DJ-A3VE-01A-11D-A23M-08		61077535	16999713	13	3026											
PRR12	57479	broad.mit.edu	37	chr19	50100109	50100109	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccagccacctccaccgccAcccccgcctccaccacccat	3	28	0	0			TCGA-DJ-A3VE-01A-11D-A23M-08	TCGA-DJ-A3VE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	749bbead-26b4-4262-9bcf-f9c209a45bfb	1178e2e9-37c4-4111-80ac-e57b675025bb	g.chr19:50100109A>C	ENST00000418929.2	+	4	2529	c.2517A>C	c.(2515-2517)ccA>ccC	p.P839P		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CTCCACCGCCACCCCCGCCTC	0.741																																						ENST00000418929.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(2515-2517)ccA>ccC		proline rich 12							4	5	4					19																	50100109		1573	3497	5070	SO:0001819	synonymous_variant	57479						DNA binding	g.chr19:50100109A>C	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.2517A>C	19.37:g.50100109A>C							p.P839P	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	2529	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	18					E9PB06|Q8N4J6	Silent	SNP	ENST00000418929.2	37	c.2517A>C	CCDS46143.1																																																																																				0.741	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		4	10	0	0	0	1	0	4	10					C	50100109	A	C	50100109	2	2	144	1	0	0	0	0	0	0	0	1	12584	146	6	5		5	PRR12	19	50100109	Silent	SNP	A	TCGA-DJ-A3VE-01A-11D-A23M-08		50100109	9028874	14	3027											
GZF1	64412	broad.mit.edu	37	chr20	23349552	23349552	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaattcactgtaccagcataTtaaagtccacacaggtatgg	8	9	1	0			TCGA-DJ-A3VE-01A-11D-A23M-08	TCGA-DJ-A3VE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	749bbead-26b4-4262-9bcf-f9c209a45bfb	1178e2e9-37c4-4111-80ac-e57b675025bb	g.chr20:23349552T>C	ENST00000338121.5	+	4	1690	c.1613T>C	c.(1612-1614)aTt>aCt	p.I538T	GZF1_ENST00000542987.1_Missense_Mutation_p.I47T|GZF1_ENST00000544236.1_Missense_Mutation_p.I62T|GZF1_ENST00000377051.2_Missense_Mutation_p.I538T			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	538					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)					TACCAGCATATTAAAGTCCAC	0.378																																						ENST00000338121.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24						c.(1612-1614)aTt>aCt		GDNF-inducible zinc finger protein 1							106	105	105					20																	23349552		2203	4300	6503	SO:0001583	missense	64412				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	g.chr20:23349552T>C	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.1613T>C	20.37:g.23349552T>C	ENSP00000338290:p.Ile538Thr					GZF1_ENST00000377051.2_Missense_Mutation_p.I538T|GZF1_ENST00000542987.1_Missense_Mutation_p.I47T|GZF1_ENST00000544236.1_Missense_Mutation_p.I62T	p.I538T			Q9H116	GZF1_HUMAN			4	1690	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		538					A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	ENST00000338121.5	37	c.1613T>C	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	T	11.44	1.638414	0.29157	.	.	ENSG00000125812	ENST00000544236;ENST00000338121;ENST00000542987;ENST00000377051	T;T;T;T	0.19938	2.11;2.11;2.11;2.11	5.87	4.76	0.60689	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.201336	0.32120	N	0.006543	T	0.14830	0.0358	N	0.20610	0.595	0.35766	D	0.820556	P	0.43938	0.822	B	0.40825	0.341	T	0.16129	-1.0413	10	0.40728	T	0.16	.	11.6634	0.51361	0.1328:0.0:0.0:0.8671	.	538	Q9H116	GZF1_HUMAN	T	62;538;47;538	ENSP00000445458:I62T;ENSP00000338290:I538T;ENSP00000445118:I47T;ENSP00000366250:I538T	ENSP00000338290:I538T	I	+	2	0	GZF1	23297552	0.872000	0.30054	0.878000	0.34440	0.371000	0.29859	4.196000	0.58407	1.020000	0.39573	0.528000	0.53228	ATT		0.378	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		24	158	0	0	0	1	0	24	158					C	23349552	T	C	23349552	3	2	144	1	0	0	0	0	1	0	0	0	6914	1493	52	3	1623	3	GZF1	20	23349552	Missense_Mutation	SNP	T	TCGA-DJ-A3VE-01A-11D-A23M-08		23349552	39675968	15	3028											
APOL2	23780	broad.mit.edu	37	chr22	36623751	36623751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgcgggggtggggcatacGctcctaactgagggttggct	17	8	0	1			TCGA-DJ-A3VE-01A-11D-A23M-08	TCGA-DJ-A3VE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	749bbead-26b4-4262-9bcf-f9c209a45bfb	1178e2e9-37c4-4111-80ac-e57b675025bb	g.chr22:36623751G>A	ENST00000249066.6	-	6	1189	c.713C>T	c.(712-714)gCg>gTg	p.A238V	APOL2_ENST00000358502.5_Missense_Mutation_p.A238V|APOL2_ENST00000451256.2_Missense_Mutation_p.A350V	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	238					acute-phase response (GO:0006953)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|maternal process involved in female pregnancy (GO:0060135)|multicellular organismal development (GO:0007275)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|membrane (GO:0016020)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						TGGGGCATACGCTCCTAACTG	0.542																																						ENST00000249066.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						c.(712-714)gCg>gTg		apolipoprotein L, 2							123	126	125					22																	36623751		2173	4292	6465	SO:0001583	missense	23780				acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding	g.chr22:36623751G>A	AF324224	CCDS43014.1	22q12.3	2013-09-20			ENSG00000128335	ENSG00000128335		"Apolipoproteins"	619	protein-coding gene	gene with protein product	"apolipoprotein L-II"	607252				10591208, 11374903	Standard	NM_145637		Approved	APOL-II	uc003apa.3	Q9BQE5	OTTHUMG00000150634	ENST00000249066.6:c.713C>T	22.37:g.36623751G>A	ENSP00000249066:p.Ala238Val					APOL2_ENST00000451256.2_Missense_Mutation_p.A350V|APOL2_ENST00000358502.5_Missense_Mutation_p.A238V	p.A238V	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN			6	1189	-			238					B0QYK7|O95915|Q59GW9|Q5TH96|Q969T6|Q9BT28|Q9UGT1|Q9UH10	Missense_Mutation	SNP	ENST00000249066.6	37	c.713C>T	CCDS43014.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.724214	0.30593	.	.	ENSG00000128335	ENST00000358502;ENST00000249066;ENST00000451256	T;T;T	0.03982	3.74;3.74;3.74	3.71	-7.41	0.01392	.	1.441560	0.04508	N	0.382331	T	0.04770	0.0129	L	0.34521	1.04	0.09310	N	1	P;P	0.51653	0.904;0.947	B;B	0.44278	0.445;0.411	T	0.32929	-0.9888	10	0.46703	T	0.11	.	8.781	0.34792	0.0:0.4675:0.1765:0.3561	.	350;238	B4E1T5;Q9BQE5	.;APOL2_HUMAN	V	238;238;350	ENSP00000351292:A238V;ENSP00000249066:A238V;ENSP00000403153:A350V	ENSP00000249066:A238V	A	-	2	0	APOL2	34953697	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.970000	0.03810	-1.278000	0.02408	0.411000	0.27672	GCG		0.542	APOL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319279.1	NM_145637		100	135	0	0	0	1	0	100	135					A	36623751	G	A	36623751	3	1	144	1	0	0	0	0	1	0	0	0	806	1087	38	1	304	1	APOL2	22	36623751	Missense_Mutation	SNP	G	TCGA-DJ-A3VE-01A-11D-A23M-08		36623751	14680815	16	3029											
RGPD5	727851	broad.mit.edu	37	chr2	113147636	113147636	+	Frame_Shift_Del	DEL	A	A	-													aaagtgctacttgtttggccAaaaatcacaccacggccctt							TCGA-DJ-A3VF-01A-11D-A23M-08	TCGA-DJ-A3VF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5477ece-95a6-4fdf-a9df-e81444e69336	d269d2ff-62b4-48c6-8020-9473ae00cbb2	g.chr2:113147636delA	ENST00000302558.3	-	20	3077	c.2886delT	c.(2884-2886)tttfs	p.F962fs	RGPD8_ENST00000409750.1_Frame_Shift_Del_p.F822fs	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	962					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						TTGTTTGGCCAAAAATCACAC	0.408																																						ENST00000302558.3																			0				endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(2884-2886)ttfs		RANBP2-like and GRIP domain containing 8							80	72	74					2																	113147636		686	1568	2254	SO:0001589	frameshift_variant	727851							g.chr2:113147636delA	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.2886delT	2.37:g.113147636delA	ENSP00000306637:p.Phe962fs					RGPD8_ENST00000409750.1_Frame_Shift_Del_p.F822fs	p.F962fs	NM_001164463.1	NP_001157935.1					20	3077	-								Q5CZA8	Frame_Shift_Del	DEL	ENST00000302558.3	37	c.2886delT	CCDS46394.1																																																																																				0.408	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		7	249						7	249	---	---	---	---	-	113147636	A	-	113147636	7	5	145	1	0	1	0	1	0	0	0	0	13289	127	5	0	13441	0	RGPD5	2	113147636	Frame_Shift_Del	DEL	A	TCGA-DJ-A3VF-01A-11D-A23M-08		113147636	130051737	1	3030											
UBP1	7342	broad.mit.edu	37	chr3	33437658	33437661	+	Frame_Shift_Del	DEL	GGGT	GGGT	-													tgccctcaatacctaccataGggtgccccactgccattctc							TCGA-DJ-A3VF-01A-11D-A23M-08	TCGA-DJ-A3VF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5477ece-95a6-4fdf-a9df-e81444e69336	d269d2ff-62b4-48c6-8020-9473ae00cbb2	g.chr3:33437658_33437661delGGGT	ENST00000283629.3	-	13	1912_1915	c.1383_1386delACCC	c.(1381-1386)gcacccfs	p.AP461fs	UBP1_ENST00000283628.5_Frame_Shift_Del_p.AP461fs|UBP1_ENST00000486388.1_5'UTR|UBP1_ENST00000447368.2_Frame_Shift_Del_p.AP425fs	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	461					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.P462S(1)		breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						ACCTACCATAGGGTGCCCCACTGC	0.534																																						ENST00000283629.3																			1	Substitution - Missense(1)	p.P462S(1)	lung(1)	breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						c.(1381-1386)gcfs		upstream binding protein 1 (LBP-1a)																																				SO:0001589	frameshift_variant	7342				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr3:33437658_33437661delGGGT	AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.1383_1386delACCC	3.37:g.33437658_33437661delGGGT	ENSP00000283629:p.Ala461fs					UBP1_ENST00000283628.5_Frame_Shift_Del_p.AP461fs|UBP1_ENST00000486388.1_5'UTR|UBP1_ENST00000447368.2_Frame_Shift_Del_p.AP425fs	p.AP461fs	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN			13	1912_1915	-			461					Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Frame_Shift_Del	DEL	ENST00000283629.3	37	c.1383_1386delACCC	CCDS2659.1																																																																																				0.534	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	NM_014517		7	147						7	147	---	---	---	---	-	33437661	GGGT	-	33437658	7	5	145	1	0	1	0	1	0	0	0	0	16892	987	35	0	252	0	UBP1	3	33437658	Frame_Shift_Del	DEL	GGGT	TCGA-DJ-A3VF-01A-11D-A23M-08		33437658	164584772	2	3031											
BBS12	166379	broad.mit.edu	37	chr4	123664933	123664933	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tctgcaaaatgccacagactCtggctctccttcatcttaca	5	14	5	1			TCGA-DJ-A3VF-01A-11D-A23M-08	TCGA-DJ-A3VF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5477ece-95a6-4fdf-a9df-e81444e69336	d269d2ff-62b4-48c6-8020-9473ae00cbb2	g.chr4:123664933C>G	ENST00000314218.3	+	2	2079	c.1886C>G	c.(1885-1887)tCt>tGt	p.S629C	BBS12_ENST00000542236.1_Missense_Mutation_p.S629C	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	629					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						GCCACAGACTCTGGCTCTCCT	0.348									Bardet-Biedl syndrome																													ENST00000542236.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						c.(1885-1887)tCt>tGt		Bardet-Biedl syndrome 12							79	76	77					4																	123664933		2203	4300	6503	SO:0001583	missense	166379	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process	cilium	ATP binding	g.chr4:123664933C>G	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"Heat Shock Proteins / Chaperonins"	26648	protein-coding gene	gene with protein product		610683	"chromosome 4 open reading frame 24"	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.1886C>G	4.37:g.123664933C>G	ENSP00000319062:p.Ser629Cys					BBS12_ENST00000314218.3_Missense_Mutation_p.S629C	p.S629C	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN			3	2267	+			629					D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	ENST00000314218.3	37	c.1886C>G	CCDS3728.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.581096	0.28180	.	.	ENSG00000181004	ENST00000314218;ENST00000542236	T;T	0.69685	-0.42;-0.42	5.81	4.92	0.64577	.	0.440682	0.22942	N	0.053772	T	0.60650	0.2285	L	0.50919	1.6	0.09310	N	1	B	0.34399	0.452	B	0.36766	0.232	T	0.55566	-0.8121	10	0.35671	T	0.21	-13.6	11.4072	0.49904	0.1199:0.711:0.1692:0.0	.	629	Q6ZW61	BBS12_HUMAN	C	629	ENSP00000319062:S629C;ENSP00000438273:S629C	ENSP00000319062:S629C	S	+	2	0	BBS12	123884383	1.000000	0.71417	0.329000	0.25429	0.790000	0.44656	2.572000	0.45999	2.746000	0.94184	0.591000	0.81541	TCT		0.348	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618		17	61	0	0	0	1	0	17	61					G	123664933	C	G	123664933	3	3	145	1	0	0	0	0	1	0	0	0	1337	913	32	4	1888	4	BBS12	4	123664933	Missense_Mutation	SNP	C	TCGA-DJ-A3VF-01A-11D-A23M-08		123664933	67489343	3	3032											
IMPG1	3617	broad.mit.edu	37	chr6	76751735	76751735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctttgccaaatcgaatattCgtctcatagttgacattttg	7	8	1	1	rs147225489		TCGA-DJ-A3VF-01A-11D-A23M-08	TCGA-DJ-A3VF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5477ece-95a6-4fdf-a9df-e81444e69336	d269d2ff-62b4-48c6-8020-9473ae00cbb2	g.chr6:76751735C>T	ENST00000369950.3	-	2	365	c.176G>A	c.(175-177)cGa>cAa	p.R59Q	IMPG1_ENST00000369963.3_Intron	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				ATCGAATATTCGTCTCATAGT	0.358													C|||	1	0.000199681	0	0	5008	,	,		18192	0		0.001	False		,,,				2504	0				Pancreas(37;839 1141 2599 26037)	ENST00000369950.3																			0				breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(175-177)cGa>cAa		interphotoreceptor matrix proteoglycan 1		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	191	178	182		176	2.0	0.4	6	dbSNP_134	182	0,8600		0,0,4300	no	missense	IMPG1	NM_001563.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	59/798	76751735	1,13005	2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76751735C>T	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"sialoprotein associated with cones and rods"	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.176G>A	6.37:g.76751735C>T	ENSP00000358966:p.Arg59Gln					IMPG1_ENST00000369963.3_Intron	p.R59Q	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN			2	365	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	59						Missense_Mutation	SNP	ENST00000369950.3	37	c.176G>A	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	C	9.654	1.142296	0.21205	2.27E-4	0.0	ENSG00000112706	ENST00000369950	T	0.23950	1.88	6.07	1.97	0.26223	.	0.327775	0.25130	N	0.032906	T	0.06050	0.0157	L	0.43152	1.355	0.34239	D	0.677363	P	0.34934	0.476	B	0.19946	0.027	T	0.30995	-0.9959	9	.	.	.	.	7.3362	0.26611	0.1173:0.6825:0.0:0.2002	.	59	Q17R60	IMPG1_HUMAN	Q	59	ENSP00000358966:R59Q	.	R	-	2	0	IMPG1	76808455	0.097000	0.21791	0.351000	0.25721	0.200000	0.23975	0.370000	0.20433	0.064000	0.16427	0.655000	0.94253	CGA		0.358	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		40	81	0	0	0	1	0	40	81					T	76751735	C	T	76751735	3	4	145	1	0	0	0	0	1	0	0	0	7728	884	31	1	2281	1	IMPG1	6	76751735	Missense_Mutation	SNP	C	TCGA-DJ-A3VF-01A-11D-A23M-08		76751735	94363332	4	3033											
LRRC17	10234	broad.mit.edu	37	chr7	102574783	102574783	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttactgcagcacaaccagatCaaagtcttgacggaggaagt	10	9	2	2	rs368332401		TCGA-DJ-A3VF-01A-11D-A23M-08	TCGA-DJ-A3VF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5477ece-95a6-4fdf-a9df-e81444e69336	d269d2ff-62b4-48c6-8020-9473ae00cbb2	g.chr7:102574783C>G	ENST00000339431.4	+	2	718	c.423C>G	c.(421-423)atC>atG	p.I141M	FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000456695.1_Intron|LRRC17_ENST00000249377.4_Missense_Mutation_p.I141M|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000379306.3_Intron	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	141					bone marrow development (GO:0048539)|negative regulation of osteoclast differentiation (GO:0045671)|ossification (GO:0001503)	extracellular space (GO:0005615)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						ACAACCAGATCAAAGTCTTGA	0.448																																						ENST00000249377.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(421-423)atC>atG		leucine rich repeat containing 17		C	MET/ILE,,MET/ILE,	0,4406		0,0,2203	114	109	111		423,,423,	2.4	1.0	7		111	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron,missense,intron	LRRC17,FBXL13	NM_001031692.2,NM_001111038.1,NM_005824.2,NM_145032.3	10,,10,	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	possibly-damaging,,possibly-damaging,	141/442,,141/314,	102574783	1,13005	2203	4300	6503	SO:0001583	missense	10234				bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space		g.chr7:102574783C>G	U32907	CCDS5727.1, CCDS34721.1	7q22.1	2009-05-26			ENSG00000128606	ENSG00000128606			16895	protein-coding gene	gene with protein product						8982252, 19336404	Standard	NM_005824		Approved	P37NB, H_RG318M05.3	uc003vau.3	Q8N6Y2	OTTHUMG00000157210	ENST00000339431.4:c.423C>G	7.37:g.102574783C>G	ENSP00000344242:p.Ile141Met					FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000313221.4_Intron|LRRC17_ENST00000339431.4_Missense_Mutation_p.I141M	p.I141M	NM_005824.2	NP_005815.2	Q8N6Y2	LRC17_HUMAN			2	704	+			141					Q13288|Q6UWA7|Q75MG5	Missense_Mutation	SNP	ENST00000339431.4	37	c.423C>G	CCDS34721.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.310321	0.40895	0.0	1.16E-4	ENSG00000128606	ENST00000339431;ENST00000249377	T;T	0.64618	-0.11;-0.11	5.41	2.42	0.29668	.	0.216848	0.31323	N	0.007859	T	0.59569	0.2203	M	0.84433	2.695	0.49582	D	0.999802	B;B	0.25809	0.099;0.135	B;B	0.25614	0.062;0.037	T	0.61073	-0.7136	10	0.87932	D	0	-11.7694	3.3288	0.07076	0.407:0.3675:0.1336:0.0919	.	141;141	Q8N6Y2;Q8N6Y2-2	LRC17_HUMAN;.	M	141	ENSP00000344242:I141M;ENSP00000249377:I141M	ENSP00000249377:I141M	I	+	3	3	LRRC17	102362019	0.996000	0.38824	0.991000	0.47740	0.993000	0.82548	0.472000	0.22116	0.749000	0.32854	0.557000	0.71058	ATC		0.448	LRRC17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347930.1	NM_005824		6	83	0	0	0	1	0	6	83					G	102574783	C	G	102574783	3	3	145	1	0	0	0	0	1	0	0	0	8973	816	29	4	425	4	LRRC17	7	102574783	Missense_Mutation	SNP	C	TCGA-DJ-A3VF-01A-11D-A23M-08		102574783	56563880	5	3034											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3VF-01A-11D-A23M-08	TCGA-DJ-A3VF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5477ece-95a6-4fdf-a9df-e81444e69336	d269d2ff-62b4-48c6-8020-9473ae00cbb2	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		24	79	0	0	0	1	0	24	79					T	140453136	A	T	140453136	3	4	145	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3VF-01A-11D-A23M-08	37878353	140453136	18685527	6	3035											
CKAP4	10970	broad.mit.edu	37	chr12	106633705	106633705	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctccatgtcccactctctGgacttggctgaggtctgtat	10	13	2	1			TCGA-DJ-A3VF-01A-11D-A23M-08	TCGA-DJ-A3VF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5477ece-95a6-4fdf-a9df-e81444e69336	d269d2ff-62b4-48c6-8020-9473ae00cbb2	g.chr12:106633705G>A	ENST00000378026.4	-	2	1042	c.906C>T	c.(904-906)tcC>tcT	p.S302S	CKAP4_ENST00000552828.1_5'UTR	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	302						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						CCCACTCTCTGGACTTGGCTG	0.537																																						ENST00000378026.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						c.(904-906)tcC>tcT		cytoskeleton-associated protein 4							120	122	121					12																	106633705		2203	4300	6503	SO:0001819	synonymous_variant	10970					ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction		g.chr12:106633705G>A	X69910	CCDS9103.1	12q23.3	2006-06-23				ENSG00000136026			16991	protein-coding gene	gene with protein product						8314870	Standard	NM_006825		Approved	P63, CLIMP-63, ERGIC-63	uc001tlk.3	Q07065		ENST00000378026.4:c.906C>T	12.37:g.106633705G>A						CKAP4_ENST00000552828.1_5'UTR	p.S302S	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN			2	1042	-			302					Q504S5|Q53ES6	Silent	SNP	ENST00000378026.4	37	c.906C>T	CCDS9103.1																																																																																				0.537	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407196.1			24	136	0	0	0	1	0	24	136					A	106633705	G	A	106633705	2	1	145	1	0	0	0	0	0	0	0	1	3444	1335	47	2		2	CKAP4	12	106633705	Silent	SNP	G	TCGA-DJ-A3VF-01A-11D-A23M-08		106633705	27218190	7	3036											
SLC8A3	6547	broad.mit.edu	37	chr14	70634771	70634771	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttccagacccgaatagtggtTgtgctggtttctccattggg	12	9	1	1			TCGA-DJ-A3VF-01A-11D-A23M-08	TCGA-DJ-A3VF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5477ece-95a6-4fdf-a9df-e81444e69336	d269d2ff-62b4-48c6-8020-9473ae00cbb2	g.chr14:70634771T>A	ENST00000381269.2	-	2	1122	c.369A>T	c.(367-369)acA>acT	p.T123T	SLC8A3_ENST00000534137.1_Silent_p.T123T|SLC8A3_ENST00000356921.2_Silent_p.T123T|SLC8A3_ENST00000528359.1_Silent_p.T123T|SLC8A3_ENST00000357887.3_Silent_p.T123T	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	123					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GAATAGTGGTTGTGCTGGTTT	0.488																																						ENST00000381269.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54						c.(367-369)acA>acT		solute carrier family 8 (sodium/calcium exchanger), member 3							112	97	102					14																	70634771		2203	4300	6503	SO:0001819	synonymous_variant	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70634771T>A	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"Solute carriers"	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.369A>T	14.37:g.70634771T>A						SLC8A3_ENST00000357887.3_Silent_p.T123T|SLC8A3_ENST00000534137.1_Silent_p.T123T|SLC8A3_ENST00000528359.1_Silent_p.T123T|SLC8A3_ENST00000356921.2_Silent_p.T123T	p.T123T	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	1122	-			123					Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Silent	SNP	ENST00000381269.2	37	c.369A>T	CCDS35498.1																																																																																				0.488	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			12	43	0	0	0	1	0	12	43					A	70634771	T	A	70634771	2	1	145	1	0	0	0	0	0	0	0	1	14708	1799	63	5		5	SLC8A3	14	70634771	Silent	SNP	T	TCGA-DJ-A3VF-01A-11D-A23M-08		70634771	36714769	8	3037											
CRYM	1428	broad.mit.edu	37	chr16	21272640	21272640	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctcccttaatcacttctcccAgctcagcaaagatctcggcc	5	17	4	1			TCGA-DJ-A3VF-01A-11D-A23M-08	TCGA-DJ-A3VF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5477ece-95a6-4fdf-a9df-e81444e69336	d269d2ff-62b4-48c6-8020-9473ae00cbb2	g.chr16:21272640A>T	ENST00000219599.3	-	9	1080	c.815T>A	c.(814-816)cTg>cAg	p.L272Q	CRYM_ENST00000396023.2_Missense_Mutation_p.L272Q|CRYM_ENST00000415987.2_Missense_Mutation_p.L230Q|CRYM_ENST00000543948.1_Missense_Mutation_p.L272Q	NM_001888.3	NP_001879.1	Q14894	CRYM_HUMAN	crystallin, mu	272					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|sensory perception of sound (GO:0007605)|thyroid hormone metabolic process (GO:0042403)|thyroid hormone transport (GO:0070327)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|thiomorpholine-carboxylate dehydrogenase activity (GO:0047127)|thyroid hormone binding (GO:0070324)|transcription corepressor activity (GO:0003714)			large_intestine(1)|lung(3)	4				GBM - Glioblastoma multiforme(48;0.0573)		CACTTCTCCCAGCTCAGCAAA	0.507																																						ENST00000219599.3																			0				large_intestine(1)|lung(3)	4						c.(814-816)cTg>cAg		crystallin, mu	Levothyroxine(DB00451)						123	101	108					16																	21272640		2199	4300	6499	SO:0001583	missense	1428				negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport	cytoplasm|nucleus|plasma membrane	NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity	g.chr16:21272640A>T		CCDS10597.1	16p12.2	2013-02-14			ENSG00000103316	ENSG00000103316	1.5.1.25		2418	protein-coding gene	gene with protein product	"thiomorpholine-carboxylate dehydrogenase"	123740				1478656, 21332720	Standard	NM_001014444		Approved	DFNA40	uc002dim.3	Q14894	OTTHUMG00000090707	ENST00000219599.3:c.815T>A	16.37:g.21272640A>T	ENSP00000219599:p.Leu272Gln					CRYM_ENST00000415987.2_Missense_Mutation_p.L230Q|CRYM_ENST00000396023.2_Missense_Mutation_p.L272Q|CRYM_ENST00000543948.1_Missense_Mutation_p.L272Q	p.L272Q	NM_001888.3	NP_001879.1	Q14894	CRYM_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	9	1080	-			272					D5MNX0|Q5HYB7	Missense_Mutation	SNP	ENST00000219599.3	37	c.815T>A	CCDS10597.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.501180	0.85176	.	.	ENSG00000103316	ENST00000543948;ENST00000219599;ENST00000396023;ENST00000415987	D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.66	5.49	5.49	0.81192	NAD(P)-binding domain (1);	0.069610	0.64402	D	0.000014	D	0.93517	0.7931	H	0.96547	3.84	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.95163	0.8283	10	0.87932	D	0	-17.801	13.3133	0.60393	1.0:0.0:0.0:0.0	.	272	Q14894	CRYM_HUMAN	Q	272;272;272;230	ENSP00000440227:L272Q;ENSP00000219599:L272Q;ENSP00000379341:L272Q;ENSP00000390928:L230Q	ENSP00000219599:L272Q	L	-	2	0	CRYM	21180141	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.327000	0.90012	2.090000	0.63153	0.533000	0.62120	CTG		0.507	CRYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207398.1			10	35	0	0	0	1	0	10	35					T	21272640	A	T	21272640	3	4	145	1	0	0	0	0	1	0	0	0	3921	188	7	5	137	5	CRYM	16	21272640	Missense_Mutation	SNP	A	TCGA-DJ-A3VF-01A-11D-A23M-08		21272640	69082113	9	3038											
FLOT2	2319	broad.mit.edu	37	chr17	27209047	27209047	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gccaactgggcctcagctgtCtgtggcaagagggtgtgtgg	17	9	2	1			TCGA-DJ-A3VF-01A-11D-A23M-08	TCGA-DJ-A3VF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5477ece-95a6-4fdf-a9df-e81444e69336	d269d2ff-62b4-48c6-8020-9473ae00cbb2	g.chr17:27209047C>A	ENST00000394908.4	-	8	804		c.e8-1		FLOT2_ENST00000585169.1_Splice_Site|FLOT2_ENST00000394906.2_Splice_Site|FLOT2_ENST00000577789.1_Splice_Site	NM_004475.2	NP_004466.2	Q14254	FLOT2_HUMAN	flotillin 2						cell adhesion (GO:0007155)|epidermis development (GO:0008544)|establishment of protein localization to plasma membrane (GO:0090002)|negative regulation of amyloid precursor protein catabolic process (GO:1902992)|negative regulation of gene expression (GO:0010629)|protein stabilization (GO:0050821)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|flotillin complex (GO:0016600)|focal adhesion (GO:0005925)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CCTCAGCTGTCTGTGGCAAGA	0.567																																						ENST00000394906.2																			0				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11						c.e10-1		flotillin 2							39	40	39					17																	27209047		2068	4207	6275	SO:0001630	splice_region_variant	2319				cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction		g.chr17:27209047C>A	M60922	CCDS11245.2	17q11-q12	2008-07-18			ENSG00000132589	ENSG00000132589			3758	protein-coding gene	gene with protein product	"Flotillin 2 (epidermal surface antigen 1)", "membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1)"	131560		M17S1		1769667	Standard	XM_005257950		Approved	ESA, ESA1, ECS-1, ECS1	uc002hdc.3	Q14254	OTTHUMG00000132674	ENST00000394908.4:c.700-1G>T	17.37:g.27209047C>A						FLOT2_ENST00000577789.1_Splice_Site|FLOT2_ENST00000394908.4_Splice_Site|FLOT2_ENST00000585169.1_Splice_Site				Q14254	FLOT2_HUMAN	Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)		10	942	-	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)								Splice_Site	SNP	ENST00000394908.4	37		CCDS11245.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052226	0.75960	.	.	ENSG00000132589	ENST00000394906;ENST00000394908	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4614	0.90739	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FLOT2	24233173	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	7.783000	0.85696	2.622000	0.88805	0.591000	0.81541	.		0.567	FLOT2-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255935.3	NM_004475	Intron	5	52	1	0	0.00116845	1	0.00116845	5	52					A	27209047	C	A	27209047	5	1	145	1	0	0	0	0	0	0	1	0	5937	927	32	4	603	4	FLOT2	17	27209047	Splice_Site	SNP	C	TCGA-DJ-A3VF-01A-11D-A23M-08		27209047	53986163	10	3039											
DGCR2	9993	broad.mit.edu	37	chr22	19028788	19028788	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaagccagggatcctgcgGccgaggttgaagtggtgcac	15	10	1	1			TCGA-DJ-A3VF-01A-11D-A23M-08	TCGA-DJ-A3VF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5477ece-95a6-4fdf-a9df-e81444e69336	d269d2ff-62b4-48c6-8020-9473ae00cbb2	g.chr22:19028788G>A	ENST00000263196.7	-	9	1426	c.1179C>T	c.(1177-1179)ggC>ggT	p.G393G	DGCR2_ENST00000537045.1_Silent_p.G352G|DGCR2_ENST00000545799.1_3'UTR	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	393					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)					GGATCCTGCGGCCGAGGTTGA	0.622																																						ENST00000263196.7																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18						c.(1177-1179)ggC>ggT		DiGeorge syndrome critical region gene 2							73	72	72					22																	19028788		2203	4300	6503	SO:0001819	synonymous_variant	9993				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding	g.chr22:19028788G>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.1179C>T	22.37:g.19028788G>A						DGCR2_ENST00000545799.1_3'UTR|DGCR2_ENST00000537045.1_Silent_p.G352G	p.G393G	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN			9	1426	-	Colorectal(54;0.0993)		393					A6NIB5|A8K6K5|B5TY34|B7Z935	Silent	SNP	ENST00000263196.7	37	c.1179C>T	CCDS33598.1																																																																																				0.622	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316504.1	NM_005137		25	59	0	0	0	1	0	25	59					A	19028788	G	A	19028788	2	1	145	1	0	0	0	0	0	0	0	1	4461	1190	42	2		2	DGCR2	22	19028788	Silent	SNP	G	TCGA-DJ-A3VF-01A-11D-A23M-08		19028788	32275778	11	3040											
OSBP2	23762	broad.mit.edu	37	chr22	31090938	31090939	+	Frame_Shift_Ins	INS	-	-	G													gccgaggcggcggctgtggcINSggccgctcccgcgggctctc					rs143022866		TCGA-DJ-A3VF-01A-11D-A23M-08	TCGA-DJ-A3VF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5477ece-95a6-4fdf-a9df-e81444e69336	d269d2ff-62b4-48c6-8020-9473ae00cbb2	g.chr22:31090938_31090939insG	ENST00000332585.6	+	1	146_147	c.42_43insG	c.(43-45)ggcfs	p.G15fs	OSBP2_ENST00000382310.3_Frame_Shift_Ins_p.G15fs|OSBP2_ENST00000403222.3_Intron|OSBP2_ENST00000446658.2_Frame_Shift_Ins_p.G15fs|OSBP2_ENST00000407373.1_Intron	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	15					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GCGGCTGTGGCGGCCGCTCCCG	0.792																																						ENST00000332585.6																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						c.(40-45)gggccgfs		oxysterol binding protein 2																																				SO:0001589	frameshift_variant	23762				lipid transport	membrane	lipid binding	g.chr22:31090938_31090939insG		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.44dupG	22.37:g.31090940_31090940dupG	ENSP00000332576:p.Gly15fs					OSBP2_ENST00000403222.3_Intron|OSBP2_ENST00000382310.3_Frame_Shift_Ins_p.P15fs|OSBP2_ENST00000407373.1_Intron|OSBP2_ENST00000446658.2_Frame_Shift_Ins_p.P15fs	p.P15fs	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN			1	146_147	+			15					B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Frame_Shift_Ins	INS	ENST00000332585.6	37	c.42_43insG	CCDS43002.1																																																																																				0.792	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		2	4						2	4	---	---	---	---	G	31090939	-	G	31090938	7	5	145	1	0	1	1	0	0	0	0	0	11274	755	27	0	44	0	OSBP2	22	31090938	Frame_Shift_Ins	INS	-	TCGA-DJ-A3VF-01A-11D-A23M-08	12062150	31090938	20213628	12	3041											
ZC3H12A	80149	broad.mit.edu	37	chr1	37946000	37946000	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgtgccatcctggaggaagGagcagcctcggcccgacgtg	15	12	0	0			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr1:37946000G>A	ENST00000373087.6	+	3	669	c.553G>A	c.(553-555)Gag>Aag	p.E185K		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGGAGGAAGGAGCAGCCTCG	0.622																																						ENST00000373087.6																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(553-555)Gag>Aag		zinc finger CCCH-type containing 12A							78	65	69					1																	37946000		2203	4300	6503	SO:0001583	missense	80149				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding	g.chr1:37946000G>A		CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"Zinc fingers, CCCH-type domain containing"	26259	protein-coding gene	gene with protein product	"MCP induced protein 1"	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.553G>A	1.37:g.37946000G>A	ENSP00000362179:p.Glu185Lys						p.E185K	NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN			3	669	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	185						Missense_Mutation	SNP	ENST00000373087.6	37	c.553G>A	CCDS417.1	.	.	.	.	.	.	.	.	.	.	G	35	5.573144	0.96553	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.39406	1.08	4.8	4.8	0.61643	Ribonuclease Zc3h12a-like (1);	0.000000	0.85682	D	0.000000	T	0.60715	0.2290	L	0.52905	1.665	0.80722	D	1	D	0.58620	0.983	D	0.71414	0.973	T	0.62300	-0.6883	10	0.54805	T	0.06	-27.5772	18.2296	0.89929	0.0:0.0:1.0:0.0	.	185	Q5D1E8	ZC12A_HUMAN	K	185	ENSP00000362179:E185K	ENSP00000362174:E185K	E	+	1	0	ZC3H12A	37718587	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.414000	0.97362	2.387000	0.81309	0.563000	0.77884	GAG		0.622	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	NM_025079		18	28	0	0	0	1	0	18	28					A	37946000	G	A	37946000	3	1	146	1	0	0	0	0	1	0	0	0	17558	1175	41	2	559	2	ZC3H12A	1	37946000	Missense_Mutation	SNP	G	TCGA-DJ-A3VG-01A-11D-A23M-08		37946000	211304621	1	3042											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290	byFrequency	TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		neuroblastoma RAS viral (v-ras) oncogene homolog							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		68	83	0	0	0	1	0	68	83					C	115256529	T	C	115256529	3	2	146	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-DJ-A3VG-01A-11D-A23M-08	77310529	115256529	133994092	2	3043											
KCNN3	3782	broad.mit.edu	37	chr1	154842242	154842244	+	In_Frame_Del	DEL	GAA	GAA	-													ctgctgctgctgctgctgctGaagctgcggaggctgaggct							TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr1:154842242_154842244delGAA	ENST00000271915.4	-	1	512_514	c.197_199delTTC	c.(196-201)cttcag>cag	p.L66del	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	66	Gln-rich.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	tgctgctgctgaagctgcggagg	0.7																																						ENST00000271915.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(196-201)cag>c		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3																																				SO:0001651	inframe_deletion	3782					integral to membrane	calmodulin binding	g.chr1:154842242_154842244delGAA	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.197_199delTTC	1.37:g.154842242_154842244delGAA	ENSP00000271915:p.Leu66del						p.LQ66del	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		1	512_514	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		66			Poly-Gln.		B1ANX0|O43517|Q86VF9|Q8WXG7	In_Frame_Del	DEL	ENST00000271915.4	37	c.197_199delTTC	CCDS30880.1																																																																																				0.7	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		3	6						3	6	---	---	---	---	-	154842244	GAA	-	154842242	7	5	146	1	0	1	0	1	0	0	0	0	8080	1299	45	0	2050	0	KCNN3	1	154842242	In_Frame_Del	DEL	GAA	TCGA-DJ-A3VG-01A-11D-A23M-08	39585713	154842242	94408379	3	3044											
SLC41A1	254428	broad.mit.edu	37	chr1	205764534	205764534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagcttgctcagagttctctCcgggcattccattcatgtgc	10	12	3	1	rs371237657		TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr1:205764534C>T	ENST00000367137.3	-	9	2159	c.1145G>A	c.(1144-1146)gGa>gAa	p.G382E	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	382					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AGAGTTCTCTCCGGGCATTCC	0.607																																						ENST00000367137.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(1144-1146)gGa>gAa		solute carrier family 41 (magnesium transporter), member 1		C	GLU/GLY	0,4406		0,0,2203	82	68	72		1145	5.3	1.0	1		72	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC41A1	NM_173854.4	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	382/514	205764534	1,13005	2203	4300	6503	SO:0001583	missense	254428					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity	g.chr1:205764534C>T	AJ514402	CCDS30988.1	1q32.1	2013-07-17	2013-07-17		ENSG00000133065	ENSG00000133065		"Solute carriers"	19429	protein-coding gene	gene with protein product		610801				12810078, 18367447	Standard	NM_173854		Approved	MgtE	uc001hdh.1	Q8IVJ1	OTTHUMG00000036000	ENST00000367137.3:c.1145G>A	1.37:g.205764534C>T	ENSP00000356105:p.Gly382Glu					SLC41A1_ENST00000468057.1_5'UTR	p.G382E	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)		9	2159	-	Breast(84;0.0799)		382					Q63HJ4|Q658Z5|Q659A4|Q6MZK2	Missense_Mutation	SNP	ENST00000367137.3	37	c.1145G>A	CCDS30988.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.158439	0.57368	0.0	1.16E-4	ENSG00000133065	ENST00000367137	T	0.28895	1.59	5.35	5.35	0.76521	MgtE magnesium transporter, integral membrane (1);	0.153283	0.64402	D	0.000013	T	0.58133	0.2101	M	0.77103	2.36	0.54753	D	0.999982	D	0.67145	0.996	D	0.76575	0.988	T	0.54938	-0.8218	10	0.38643	T	0.18	-16.2419	18.8367	0.92165	0.0:1.0:0.0:0.0	.	382	Q8IVJ1	S41A1_HUMAN	E	382	ENSP00000356105:G382E	ENSP00000356105:G382E	G	-	2	0	SLC41A1	204031157	0.999000	0.42202	0.996000	0.52242	0.009000	0.06853	5.706000	0.68362	2.776000	0.95493	0.655000	0.94253	GGA		0.607	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087731.1			15	24	0	0	0	1	0	15	24					T	205764534	C	T	205764534	3	4	146	1	0	0	0	0	1	0	0	0	14629	855	30	2	408	2	SLC41A1	1	205764534	Missense_Mutation	SNP	C	TCGA-DJ-A3VG-01A-11D-A23M-08	50922292	205764534	43486087	4	3045											
ANGEL2	90806	broad.mit.edu	37	chr1	213178773	213178773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaggtttccttcctgtccGcatcttatattcacagtgat	6	11	3	1			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr1:213178773G>A	ENST00000366962.3	-	5	890	c.736C>T	c.(736-738)Cgg>Tgg	p.R246W	ANGEL2_ENST00000535388.1_Missense_Mutation_p.R77W|ANGEL2_ENST00000360506.2_Missense_Mutation_p.R77W|ANGEL2_ENST00000544555.1_Missense_Mutation_p.R77W|ANGEL2_ENST00000540642.1_Missense_Mutation_p.R120W	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	246										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		CTTCCTGTCCGCATCTTATAT	0.368																																						ENST00000366962.3																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24						c.(736-738)Cgg>Tgg		angel homolog 2 (Drosophila)							93	99	97					1																	213178773		2189	4299	6488	SO:0001583	missense	90806							g.chr1:213178773G>A	AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.736C>T	1.37:g.213178773G>A	ENSP00000355929:p.Arg246Trp					ANGEL2_ENST00000535388.1_Missense_Mutation_p.R77W|ANGEL2_ENST00000540642.1_Missense_Mutation_p.R120W|ANGEL2_ENST00000544555.1_Missense_Mutation_p.R77W|ANGEL2_ENST00000360506.2_Missense_Mutation_p.R77W	p.R246W	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)	5	890	-			246					B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Missense_Mutation	SNP	ENST00000366962.3	37	c.736C>T	CCDS1512.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682310	0.68042	.	.	ENSG00000174606	ENST00000366962;ENST00000360506;ENST00000544555;ENST00000540642;ENST00000535388	D;D;D;D;D	0.95724	-3.79;-3.6;-3.6;-3.79;-3.6	5.45	2.42	0.29668	Endonuclease/exonuclease/phosphatase (2);	0.060391	0.64402	D	0.000003	D	0.97798	0.9277	M	0.93420	3.415	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.96627	0.9464	10	0.59425	D	0.04	-10.8417	8.9311	0.35670	0.072:0.0:0.4718:0.4562	.	120;246	F5H476;Q5VTE6	.;ANGE2_HUMAN	W	246;77;77;120;77	ENSP00000355929:R246W;ENSP00000353696:R77W;ENSP00000443193:R77W;ENSP00000446124:R120W;ENSP00000438141:R77W	ENSP00000353696:R77W	R	-	1	2	ANGEL2	211245396	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.237000	0.32695	0.297000	0.22615	0.650000	0.86243	CGG		0.368	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	NM_144567		5	101	0	0	0	1	0	5	101					A	213178773	G	A	213178773	3	1	146	1	0	0	0	0	1	0	0	0	609	1086	38	1	918	1	ANGEL2	1	213178773	Missense_Mutation	SNP	G	TCGA-DJ-A3VG-01A-11D-A23M-08	7414239	213178773	36071848	5	3046											
HLX	3142	broad.mit.edu	37	chr1	221055517	221055517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcggcaggtccctatgctGtgctcacgaaggacaccatg	12	13	1	0			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr1:221055517G>A	ENST00000366903.6	+	3	2285	c.784G>A	c.(784-786)Gtg>Atg	p.V262M	HLX_ENST00000549319.1_Missense_Mutation_p.V48M|HLA-AS1_ENST00000552026.1_RNA	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	262					cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		TCCCTATGCTGTGCTCACGAA	0.587																																						ENST00000366903.6																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(784-786)Gtg>Atg		H2.0-like homeobox							46	38	41					1																	221055517		2203	4300	6503	SO:0001583	missense	3142				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:221055517G>A	BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"Homeoboxes / ANTP class : NKL subclass"	4978	protein-coding gene	gene with protein product		142995	"H2.0 (Drosophila)-like homeo box 1", "H2.0-like homeobox 1 (Drosophila)", "H2.0-like homeobox 1"	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.784G>A	1.37:g.221055517G>A	ENSP00000355870:p.Val262Met					HLX_ENST00000549319.1_Missense_Mutation_p.V48M	p.V262M	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN		GBM - Glioblastoma multiforme(131;0.00914)	3	2285	+			262					B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	ENST00000366903.6	37	c.784G>A	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	G	35	5.466012	0.96257	.	.	ENSG00000136630	ENST00000366903;ENST00000549319	T;T	0.35605	1.3;3.28	5.69	5.69	0.88448	.	0.000000	0.51477	D	0.000087	T	0.49660	0.1570	L	0.34521	1.04	0.58432	D	0.999996	D	0.69078	0.997	D	0.64776	0.929	T	0.34527	-0.9825	10	0.38643	T	0.18	-28.5089	19.8052	0.96529	0.0:0.0:1.0:0.0	.	262	Q14774	HLX_HUMAN	M	262;48	ENSP00000355870:V262M;ENSP00000449882:V48M	ENSP00000355870:V262M	V	+	1	0	HLX	219122140	1.000000	0.71417	0.954000	0.39281	0.983000	0.72400	9.830000	0.99415	2.688000	0.91661	0.561000	0.74099	GTG		0.587	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958		3	26	0	0	0	1	0	3	26					A	221055517	G	A	221055517	3	1	146	1	0	0	0	0	1	0	0	0	7216	1377	48	2	794	2	HLX	1	221055517	Missense_Mutation	SNP	G	TCGA-DJ-A3VG-01A-11D-A23M-08	7876744	221055517	28195104	6	3047											
TCF7L1	83439	broad.mit.edu	37	chr2	85361493	85361494	+	Frame_Shift_Del	DEL	GG	GG	-													ttaaaggacccccgtaccctGggtaccccttcctgatgatc							TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr2:85361493_85361494delGG	ENST00000282111.3	+	3	636_637	c.361_362delGG	c.(361-363)gggfs	p.G121fs	TCF7L1_ENST00000494519.1_3'UTR	NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	121	Pro-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CCCGTACCCTGGGTACCCCTTC	0.673																																						ENST00000282111.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						c.(361-363)gfs		transcription factor 7-like 1 (T-cell specific, HMG-box)																																				SO:0001589	frameshift_variant	83439				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:85361493_85361494delGG	X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.361_362delGG	2.37:g.85361493_85361494delGG	ENSP00000282111:p.Gly121fs					TCF7L1_ENST00000494519.1_3'UTR	p.G121fs	NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN			3	636_637	+			121			Pro-rich.		Q53R97|Q6PD70|Q9NP00	Frame_Shift_Del	DEL	ENST00000282111.3	37	c.361_362delGG	CCDS1971.1																																																																																				0.673	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	NM_031283		2	4						2	4	---	---	---	---	-	85361494	GG	-	85361493	7	5	146	1	0	1	0	1	0	0	0	0	15694	1348	47	0	371	0	TCF7L1	2	85361493	Frame_Shift_Del	DEL	GG	TCGA-DJ-A3VG-01A-11D-A23M-08		85361493	157837880	7	3048											
TEKT4	150483	broad.mit.edu	37	chr2	95537590	95537590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgcagcaagactccacgcGcacagtgggcgagcgactgc	13	15	0	1			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr2:95537590G>A	ENST00000295201.4	+	1	403	c.266G>A	c.(265-267)cGc>cAc	p.R89H	TEKT4_ENST00000427593.2_Missense_Mutation_p.R89H|AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	89					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GACTCCACGCGCACAGTGGGC	0.692																																						ENST00000295201.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(265-267)cGc>cAc		tektin 4							15	15	15					2																	95537590		2191	4284	6475	SO:0001583	missense	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95537590G>A	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.266G>A	2.37:g.95537590G>A	ENSP00000295201:p.Arg89His					TEKT4_ENST00000427593.2_Missense_Mutation_p.R89H|AC097374.2_ENST00000568768.1_RNA	p.R89H	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN			1	403	+			89						Missense_Mutation	SNP	ENST00000295201.4	37	c.266G>A	CCDS2005.1	.	.	.	.	.	.	.	.	.	.	.	10.99	1.508783	0.27036	.	.	ENSG00000163060	ENST00000295201;ENST00000427593	T;T	0.02709	4.19;4.19	1.97	-0.0484	0.13839	.	0.721060	0.12351	N	0.476521	T	0.07954	0.0199	M	0.79123	2.44	0.09310	N	1	D	0.58970	0.984	P	0.58454	0.839	T	0.25916	-1.0118	10	0.31617	T	0.26	-10.0826	2.47	0.04562	0.3207:0.2858:0.3935:0.0	.	89	Q8WW24	TEKT4_HUMAN	H	89	ENSP00000295201:R89H;ENSP00000407596:R89H	ENSP00000295201:R89H	R	+	2	0	TEKT4	94901317	0.000000	0.05858	0.191000	0.23289	0.056000	0.15407	0.014000	0.13333	0.165000	0.19558	-0.231000	0.12243	CGC		0.692	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		3	20	0	0	0	1	0	3	20					A	95537590	G	A	95537590	3	1	146	1	0	0	0	0	1	0	0	0	15752	1087	38	1	268	1	TEKT4	2	95537590	Missense_Mutation	SNP	G	TCGA-DJ-A3VG-01A-11D-A23M-08	10176097	95537590	147661783	8	3049											
ZNF589	51385	broad.mit.edu	37	chr3	48309874	48309874	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaccagaagtcaaacctgttCagacagaaggcagtcacagc	9	11	3	3			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr3:48309874C>G	ENST00000354698.3	+	4	765	c.693C>G	c.(691-693)ttC>ttG	p.F231L	ZNF589_ENST00000412564.1_Intron|ZNF589_ENST00000427617.2_Intron|ZNF589_ENST00000440261.2_Intron	NM_016089.2	NP_057173.2	Q86UQ0	ZN589_HUMAN	zinc finger protein 589	231					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAAACCTGTTCAGACAGAAGG	0.498																																					Colon(9;319 328 25374 27611 50948)	ENST00000354698.3																			0				large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						c.(691-693)ttC>ttG		zinc finger protein 589							85	92	90					3																	48309874		2159	4280	6439	SO:0001583	missense	51385				regulation of transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:48309874C>G	AF114816	CCDS43085.1	3p21	2013-01-08			ENSG00000164048	ENSG00000164048		"Zinc fingers, C2H2-type", "-"	16747	protein-coding gene	gene with protein product						10029171	Standard	NM_016089		Approved	SZF1	uc003csl.4	Q86UQ0	OTTHUMG00000156833	ENST00000354698.3:c.693C>G	3.37:g.48309874C>G	ENSP00000346729:p.Phe231Leu					ZNF589_ENST00000440261.2_Intron|ZNF589_ENST00000412564.1_Intron|ZNF589_ENST00000427617.2_Intron	p.F231L	NM_016089.2	NP_057173.2	Q86UQ0	ZN589_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	4	765	+			231					Q86UC9|Q9BRI6|Q9BRY3|Q9Y611|Q9Y612	Missense_Mutation	SNP	ENST00000354698.3	37	c.693C>G	CCDS43085.1	.	.	.	.	.	.	.	.	.	.	C	0.110	-1.139712	0.01728	.	.	ENSG00000164048	ENST00000354698;ENST00000296437	T	0.06068	3.35	1.47	-0.672	0.11377	.	.	.	.	.	T	0.02807	0.0084	N	0.05330	-0.07	0.19775	N	0.999951	B;B	0.16802	0.019;0.011	B;B	0.21546	0.033;0.035	T	0.48479	-0.9032	9	0.19590	T	0.45	.	4.0249	0.09683	0.0:0.5762:0.2464:0.1774	.	228;231	Q86UQ0-2;Q86UQ0	.;ZN589_HUMAN	L	231;228	ENSP00000346729:F231L	ENSP00000296437:F228L	F	+	3	2	ZNF589	48284878	0.000000	0.05858	0.002000	0.10522	0.334000	0.28698	-1.986000	0.01484	-0.224000	0.09928	0.467000	0.42956	TTC		0.498	ZNF589-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346124.1	NM_016089		4	115	0	0	0	1	0	4	115					G	48309874	C	G	48309874	3	3	146	1	0	0	0	0	1	0	0	0	18018	825	29	4	707	4	ZNF589	3	48309874	Missense_Mutation	SNP	C	TCGA-DJ-A3VG-01A-11D-A23M-08		48309874	149712556	9	3050											
DTX3L	151636	broad.mit.edu	37	chr3	122288340	122288340	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaaagcacttacatcagacCaagtttgctgatgactttag	8	8	1	4	rs148416505		TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr3:122288340C>A	ENST00000296161.4	+	3	1593	c.1404C>A	c.(1402-1404)acC>acA	p.T468T	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	468					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		TACATCAGACCAAGTTTGCTG	0.398																																						ENST00000296161.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(1402-1404)acC>acA		deltex 3-like (Drosophila)							133	126	128					3																	122288340		2203	4300	6503	SO:0001819	synonymous_variant	151636				histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:122288340C>A		CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"RING-type (C3HC4) zinc fingers"	30323	protein-coding gene	gene with protein product	"rhysin 2"	613143	"deltex 3-like (Drosophila)"			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.1404C>A	3.37:g.122288340C>A						DTX3L_ENST00000383661.3_Intron	p.T468T	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN		GBM - Glioblastoma multiforme(114;0.0459)	3	1593	+			468					B3KWH6|Q53ZZ3|Q5MJP7	Silent	SNP	ENST00000296161.4	37	c.1404C>A	CCDS3015.1																																																																																				0.398	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355966.1	NM_138287		4	135	1	0	0.150653	1	0.150653	4	135					A	122288340	C	A	122288340	2	1	146	1	0	0	0	0	0	0	0	1	4796	581	21	4		4	DTX3L	3	122288340	Silent	SNP	C	TCGA-DJ-A3VG-01A-11D-A23M-08	73978466	122288340	75734090	10	3051											
OTOL1	131149	broad.mit.edu	37	chr3	161217017	161217017	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaccaggagttgttgggccCcaaggccctagaggctacaa	12	13	0	1			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr3:161217017C>A	ENST00000327928.4	+	2	423	c.423C>A	c.(421-423)ccC>ccA	p.P141P		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	141	Collagen-like 1.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TTGTTGGGCCCCAAGGCCCTA	0.433																																						ENST00000327928.4																			0				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						c.(421-423)ccC>ccA		otolin 1							41	44	43					3																	161217017		1827	4076	5903	SO:0001819	synonymous_variant	131149					collagen		g.chr3:161217017C>A		CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"C1q and tumor necrosis factor related protein 15"		"otolin 1 homolog (zebrafish)"			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.423C>A	3.37:g.161217017C>A							p.P141P	NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN			2	423	+			141			Collagen-like 1.			Silent	SNP	ENST00000327928.4	37	c.423C>A	CCDS46948.1																																																																																				0.433	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353184.1	NM_001080440		3	25	1	0	0.004672	1	0.00495804	3	25					A	161217017	C	A	161217017	2	1	146	1	0	0	0	0	0	0	0	1	11304	610	22	4		4	OTOL1	3	161217017	Silent	SNP	C	TCGA-DJ-A3VG-01A-11D-A23M-08	38928677	161217017	36805413	11	3052											
PGRMC2	10424	broad.mit.edu	37	chr4	129208971	129208974	+	5'Flank	DEL	CCTC	CCTC	-													cccgccagcgccttcctcctCctccccgccccctgccctcc							TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr4:129208971_129208974delCCTC	ENST00000296425.5	-	0	0				PGRMC2_ENST00000503588.1_5'Flank|PGRMC2_ENST00000503872.1_5'Flank|PGRMC2_ENST00000520121.1_Frame_Shift_Del_p.GG17fs|PGRMC2_ENST00000512483.1_Intron			O15173	PGRC2_HUMAN	progesterone receptor membrane component 2						steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)										CCTTCCTCCTCCTCCCCGCCCCCT	0.721																																					Colon(78;371 1268 8296 41305 53030)	ENST00000520121.1																			0											c.(43-48)gafs		progesterone receptor membrane component 2																																				SO:0001631	upstream_gene_variant	10424							g.chr4:129208971_129208974delCCTC		CCDS3739.1, CCDS3739.2	4q26	2008-08-29			ENSG00000164040	ENSG00000164040			16089	protein-coding gene	gene with protein product		607735				9705155	Standard	NM_006320		Approved	PMBP, DG6	uc003igg.3	O15173	OTTHUMG00000133342		4.37:g.129208971_129208974delCCTC	Exception_encountered					PGRMC2_ENST00000512483.1_Intron	p.GG17fs	NM_006320.4	NP_006311.2					1	1010_1013	-								Q569H1	Frame_Shift_Del	DEL	ENST00000296425.5	37	c.44_47delGAGG																																																																																					0.721	PGRMC2-007	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470697.1			2	4						2	4	---	---	---	---	-	129208974	CCTC	-	129208971	6	5	146	0	1	1	0	1	0	0	0	0	11807	855	30	0		0	PGRMC2	4	129208971	5'Flank	DEL	CCTC	TCGA-DJ-A3VG-01A-11D-A23M-08		129208971	61945305	12	3053											
NR3C2	4306	broad.mit.edu	37	chr4	149075976	149075976	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggctttgcgggggtgggggTgggggtgggggctgctgctg	27	5	0	0	rs544520355	byFrequency	TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr4:149075976T>G	ENST00000358102.3	-	5	2453	c.2091A>C	c.(2089-2091)ccA>ccC	p.P697P	NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000355292.3_Silent_p.P701P|NR3C2_ENST00000344721.4_Silent_p.P697P|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000511528.1_Silent_p.P701P	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	697	Hinge.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	ggggtgggggtgggggtgggg	0.527																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(2101-2103)ccA>ccC		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						14	17	16					4																	149075976		2200	4293	6493	SO:0001819	synonymous_variant	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149075976T>G	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"Nuclear hormone receptors"	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2091A>C	4.37:g.149075976T>G						RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000358102.3_Silent_p.P697P|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000344721.4_Silent_p.P697P|NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000511528.1_Silent_p.P701P|NR3C2_ENST00000503313.1_5'UTR	p.P701P			P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	5	2465	-	all_hematologic(180;0.151)		697			Hinge.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Silent	SNP	ENST00000358102.3	37	c.2103A>C	CCDS3772.1																																																																																				0.527	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			4	5	0	0	0	1	0	4	5					G	149075976	T	G	149075976	2	3	146	1	0	0	0	0	0	0	0	1	10631	1683	59	5		5	NR3C2	4	149075976	Silent	SNP	T	TCGA-DJ-A3VG-01A-11D-A23M-08	19867005	149075976	42078300	13	3054											
TARS	6897	broad.mit.edu	37	chr5	33456283	33456283	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tttgatagatctctgccgggGtcctcatgttagacacacgg	11	10	2	3			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr5:33456283G>C	ENST00000265112.3	+	8	1099	c.788G>C	c.(787-789)gGt>gCt	p.G263A	TARS_ENST00000541634.1_Missense_Mutation_p.G159A|TARS_ENST00000455217.2_Missense_Mutation_p.G296A|TARS_ENST00000502553.1_Missense_Mutation_p.G263A|TARS_ENST00000414361.2_Missense_Mutation_p.G142A	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	263					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	CTCTGCCGGGGTCCTCATGTT	0.328																																						ENST00000265112.3																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29						c.(787-789)gGt>gCt		threonyl-tRNA synthetase	L-Threonine(DB00156)						102	102	102					5																	33456283		2203	4300	6503	SO:0001583	missense	6897				threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	g.chr5:33456283G>C	AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"Aminoacyl tRNA synthetases / Class II"	11572	protein-coding gene	gene with protein product	"threonine tRNA ligase 1, cytoplasmic"	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.788G>C	5.37:g.33456283G>C	ENSP00000265112:p.Gly263Ala					TARS_ENST00000502553.1_Missense_Mutation_p.G263A|TARS_ENST00000541634.1_Missense_Mutation_p.G159A|TARS_ENST00000414361.2_Missense_Mutation_p.G142A|TARS_ENST00000455217.2_Missense_Mutation_p.G296A	p.G263A	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN			8	1099	+			263					A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	ENST00000265112.3	37	c.788G>C	CCDS3899.1	.	.	.	.	.	.	.	.	.	.	G	31	5.081432	0.94050	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	T;T;T	0.64618	-0.09;-0.09;-0.11	5.94	5.94	0.96194	Threonyl/alanyl tRNA synthetase, SAD (2);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.000000	0.85682	D	0.000000	D	0.89825	0.6827	H	0.99659	4.685	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;0.998;1.0	D	0.93763	0.7068	10	0.87932	D	0	13.3608	20.4127	0.99019	0.0:0.0:1.0:0.0	.	142;296;159;263	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	A	263;263;159;296;142	ENSP00000424387:G263A;ENSP00000265112:G263A;ENSP00000387710:G296A	ENSP00000265112:G263A	G	+	2	0	TARS	33492040	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.835000	0.99442	2.829000	0.97493	0.579000	0.79373	GGT		0.328	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295		11	16	0	0	0	1	0	11	16					C	33456283	G	C	33456283	3	2	146	1	0	0	0	0	1	0	0	0	15556	1261	44	4	818	4	TARS	5	33456283	Missense_Mutation	SNP	G	TCGA-DJ-A3VG-01A-11D-A23M-08		33456283	147458977	14	3055											
LAMA4	3910	broad.mit.edu	37	chr6	112466059	112466059	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctggatgctggcagaaacGttgcttgcaggtcgcttctg	13	10	2	1			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr6:112466059G>T	ENST00000230538.7	-	19	2827	c.2430C>A	c.(2428-2430)aaC>aaA	p.N810K	LAMA4_ENST00000389463.4_Missense_Mutation_p.N803K|LAMA4_ENST00000424408.2_Missense_Mutation_p.N803K|LAMA4_ENST00000522006.1_Missense_Mutation_p.N803K	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	810	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TGGCAGAAACGTTGCTTGCAG	0.478																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(2428-2430)aaC>aaA		laminin, alpha 4							88	84	85					6																	112466059		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112466059G>T		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.2430C>A	6.37:g.112466059G>T	ENSP00000230538:p.Asn810Lys					LAMA4_ENST00000389463.4_Missense_Mutation_p.N803K|LAMA4_ENST00000522006.1_Missense_Mutation_p.N803K|LAMA4_ENST00000424408.2_Missense_Mutation_p.N803K	p.N810K	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	19	2827	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	810			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.2430C>A	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.080565	0.76528	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.35	-4.45	0.03546	Laminin II (1);	0.085573	0.85682	D	0.000000	T	0.45856	0.1363	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.58194	-0.7679	10	0.66056	D	0.02	.	12.4777	0.55823	0.6552:0.0:0.3448:0.0	.	810;803	Q16363;Q16363-2	LAMA4_HUMAN;.	K	810;803;803;803	ENSP00000230538:N810K;ENSP00000429488:N803K;ENSP00000374114:N803K;ENSP00000416470:N803K	ENSP00000230538:N810K	N	-	3	2	LAMA4	112572752	0.008000	0.16893	0.817000	0.32601	0.935000	0.57460	-0.930000	0.03972	-0.951000	0.03654	-0.302000	0.09304	AAC		0.478	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		26	46	1	0	4.26978e-12	1	4.62559e-12	26	46					T	112466059	G	T	112466059	3	4	146	1	0	0	0	0	1	0	0	0	8608	1136	40	4	3125	4	LAMA4	6	112466059	Missense_Mutation	SNP	G	TCGA-DJ-A3VG-01A-11D-A23M-08		112466059	58649008	15	3056											
DFNA5	1687	broad.mit.edu	37	chr7	24745946	24745946	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgccggggcttcagcTcccccagcaccgccactgtg	12	18	1	0			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr7:24745946T>C	ENST00000342947.3	-	8	1465	c.1040A>G	c.(1039-1041)gAg>gGg	p.E347G	DFNA5_ENST00000545231.1_Missense_Mutation_p.E183G|DFNA5_ENST00000409775.3_Missense_Mutation_p.E347G|DFNA5_ENST00000419307.1_Missense_Mutation_p.E183G|DFNA5_ENST00000409970.1_Missense_Mutation_p.E183G	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	347					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						GGGCTTCAGCTCCCCCAGCAC	0.662																																					GBM(78;184 1250 20134 20900 23600)	ENST00000545231.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						c.(547-549)gAg>gGg		deafness, autosomal dominant 5							22	24	24					7																	24745946		2202	4299	6501	SO:0001583	missense	1687				sensory perception of sound			g.chr7:24745946T>C	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.1040A>G	7.37:g.24745946T>C	ENSP00000339587:p.Glu347Gly					DFNA5_ENST00000419307.1_Missense_Mutation_p.E183G|DFNA5_ENST00000342947.3_Missense_Mutation_p.E347G|DFNA5_ENST00000409775.3_Missense_Mutation_p.E347G|DFNA5_ENST00000409970.1_Missense_Mutation_p.E183G	p.E183G			O60443	DFNA5_HUMAN			10	1698	-			347					A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Missense_Mutation	SNP	ENST00000342947.3	37	c.548A>G	CCDS5389.1	.	.	.	.	.	.	.	.	.	.	T	18.27	3.587505	0.66105	.	.	ENSG00000105928	ENST00000342947;ENST00000419307;ENST00000545231;ENST00000409970;ENST00000409775	T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87	5.14	2.78	0.32641	.	0.606781	0.17825	N	0.160736	T	0.38427	0.1040	M	0.75447	2.3	0.38643	D	0.95164	P	0.43231	0.801	P	0.51550	0.673	T	0.24225	-1.0166	10	0.56958	D	0.05	-14.6402	7.3907	0.26909	0.0:0.1747:0.0:0.8253	.	347	O60443	DFNA5_HUMAN	G	347;183;183;183;347	ENSP00000339587:E347G;ENSP00000401332:E183G;ENSP00000442661:E183G;ENSP00000387119:E183G;ENSP00000386670:E347G	ENSP00000339587:E347G	E	-	2	0	DFNA5	24712471	0.759000	0.28416	0.613000	0.29037	0.059000	0.15707	1.370000	0.34238	0.431000	0.26258	0.460000	0.39030	GAG		0.662	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403		6	22	0	0	0	1	0	6	22					C	24745946	T	C	24745946	3	2	146	1	0	0	0	0	1	0	0	0	4454	1551	54	3	462	3	DFNA5	7	24745946	Missense_Mutation	SNP	T	TCGA-DJ-A3VG-01A-11D-A23M-08		24745946	134392717	16	3057											
ATXN7L1	222255	broad.mit.edu	37	chr7	105516315	105516315	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	accctcttttccagcctcttCtaaatctacatctgcagatg	4	14	5	1			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr7:105516315C>T	ENST00000419735.3	-	2	238	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	ATXN7L1_ENST00000318724.4_Missense_Mutation_p.E65K|ATXN7L1_ENST00000478915.1_Intron	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1	65										endometrium(1)|large_intestine(4)|lung(5)	10						CCAGCCTCTTCTAAATCTACA	0.413																																						ENST00000419735.3																			0				endometrium(1)|large_intestine(4)|lung(5)	10						c.(193-195)Gaa>Aaa		ataxin 7-like 1							249	243	245					7																	105516315		2203	4300	6503	SO:0001583	missense	222255							g.chr7:105516315C>T	AB033044	CCDS34727.1, CCDS47682.1, CCDS47683.1	7q22.1	2007-11-13			ENSG00000146776	ENSG00000146776			22210	protein-coding gene	gene with protein product			"ataxin 7-like 4"	ATXN7L4		15115762	Standard	NM_152749		Approved	KIAA1218, MGC33190	uc003vde.2	Q9ULK2	OTTHUMG00000157521	ENST00000419735.3:c.193G>A	7.37:g.105516315C>T	ENSP00000410759:p.Glu65Lys					ATXN7L1_ENST00000478915.1_Intron|ATXN7L1_ENST00000318724.4_Missense_Mutation_p.E65K	p.E65K	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN			2	238	-			65					A4D0Q2|B4DTS1|Q8N2T0	Missense_Mutation	SNP	ENST00000419735.3	37	c.193G>A	CCDS47682.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600579	0.87055	.	.	ENSG00000146776	ENST00000419735;ENST00000318724	T;T	0.33438	1.41;1.41	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000014	T	0.53222	0.1783	L	0.49126	1.545	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.985	T	0.50329	-0.8841	10	0.72032	D	0.01	.	20.1006	0.97874	0.0:1.0:0.0:0.0	.	65;65	A4D0Q2;Q9ULK2	.;AT7L1_HUMAN	K	65	ENSP00000410759:E65K;ENSP00000326344:E65K	ENSP00000326344:E65K	E	-	1	0	ATXN7L1	105303551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.103000	0.71492	2.757000	0.94681	0.561000	0.74099	GAA		0.413	ATXN7L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349037.2			98	145	0	0	0	1	0	98	145					T	105516315	C	T	105516315	3	4	146	1	0	0	0	0	1	0	0	0	1216	922	32	2	2529	2	ATXN7L1	7	105516315	Missense_Mutation	SNP	C	TCGA-DJ-A3VG-01A-11D-A23M-08	80770369	105516315	53622348	17	3058											
CSMD1	64478	broad.mit.edu	37	chr8	3141702	3141702	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaagccagacttgctgatgaAgaagtcgctgtcgaactgca	12	9	0	4			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr8:3141702A>T	ENST00000520002.1	-	27	4675	c.4120T>A	c.(4120-4122)Ttc>Atc	p.F1374I	CSMD1_ENST00000537824.1_Missense_Mutation_p.F1373I|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Missense_Mutation_p.F1374I|CSMD1_ENST00000400186.3_Missense_Mutation_p.F1374I|CSMD1_ENST00000542608.1_Missense_Mutation_p.F1373I|CSMD1_ENST00000602557.1_Missense_Mutation_p.F1374I|CSMD1_ENST00000539096.1_Missense_Mutation_p.F1373I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1374	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTGCTGATGAAGAAGTCGCTG	0.522																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(4120-4122)Ttc>Atc		CUB and Sushi multiple domains 1							75	91	86					8																	3141702		2129	4258	6387	SO:0001583	missense	64478					integral to membrane		g.chr8:3141702A>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.4120T>A	8.37:g.3141702A>T	ENSP00000430733:p.Phe1374Ile					CSMD1_ENST00000400186.3_Missense_Mutation_p.F1374I|CSMD1_ENST00000542608.1_Missense_Mutation_p.F1373I|CSMD1_ENST00000539096.1_Missense_Mutation_p.F1373I|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Missense_Mutation_p.F1373I|CSMD1_ENST00000602723.1_Missense_Mutation_p.F1374I|CSMD1_ENST00000520002.1_Missense_Mutation_p.F1374I	p.F1374I			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	27	4675	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1374			CUB 8.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.4120T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	34|34	5.393323|5.393323	0.96009|0.96009	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.17370|.	2.28;2.28;2.28;2.28;2.28|.	5.12|5.12	5.12|5.12	0.69794|0.69794	CUB (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59390|0.59390	0.2190|0.2190	L|L	0.41236|0.41236	1.265|1.265	0.58432|0.58432	D|D	0.999998|0.999998	D;D;P|.	0.71674|.	0.998;0.975;0.564|.	D;P;B|.	0.79784|.	0.993;0.908;0.391|.	T|T	0.56613|0.56613	-0.7950|-0.7950	10|5	0.59425|.	D|.	0.04|.	.|.	14.9361|14.9361	0.70957|0.70957	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1374;1374;1374|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	I|H	1374;1374;1236;1373;1373;1373|853	ENSP00000383047:F1374I;ENSP00000430733:F1374I;ENSP00000441462:F1373I;ENSP00000446243:F1373I;ENSP00000441675:F1373I|.	ENSP00000320445:F1236I|.	F|L	-|-	1|2	0|0	CSMD1|CSMD1	3129109|3129109	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.117000|9.117000	0.94347|0.94347	1.925000|1.925000	0.55765|0.55765	0.460000|0.460000	0.39030|0.39030	TTC|CTT		0.522	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		3	4	0	0	0	1	0	3	4					T	3141702	A	T	3141702	3	4	146	1	0	0	0	0	1	0	0	0	3944	72	3	5	6757	5	CSMD1	8	3141702	Missense_Mutation	SNP	A	TCGA-DJ-A3VG-01A-11D-A23M-08		3141702	143222320	18	3059											
UNC5D	137970	broad.mit.edu	37	chr8	35425751	35425751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcaggaaggcctctgtgcGcatagcctgtaagtacattc	12	10	1	0			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr8:35425751G>A	ENST00000404895.2	+	3	786	c.458G>A	c.(457-459)cGc>cAc	p.R153H	UNC5D_ENST00000453357.2_Missense_Mutation_p.R148H|UNC5D_ENST00000416672.1_Missense_Mutation_p.R153H|UNC5D_ENST00000287272.2_Missense_Mutation_p.R153H|UNC5D_ENST00000420357.1_Missense_Mutation_p.R153H	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	153	Ig-like C2-type.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GCCTCTGTGCGCATAGCCTGT	0.517																																						ENST00000287272.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(457-459)cGc>cAc		unc-5 homolog D (C. elegans)							120	118	118					8																	35425751		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35425751G>A	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"Immunoglobulin superfamily / I-set domain containing"	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.458G>A	8.37:g.35425751G>A	ENSP00000385143:p.Arg153His					UNC5D_ENST00000453357.2_Missense_Mutation_p.R148H|UNC5D_ENST00000420357.1_Missense_Mutation_p.R153H|UNC5D_ENST00000416672.1_Missense_Mutation_p.R153H|UNC5D_ENST00000404895.2_Missense_Mutation_p.R153H	p.R153H			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	3	478	+			153			Ig-like C2-type.		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.458G>A	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	33	5.237370	0.95240	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357	T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07	5.22	5.22	0.72569	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.63271	0.2497	L	0.58669	1.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.987	T	0.66110	-0.6005	10	0.87932	D	0	-17.4187	18.7938	0.91985	0.0:0.0:1.0:0.0	.	148;153	Q6UXZ4-2;Q6UXZ4	.;UNC5D_HUMAN	H	153;153;153;153;148	ENSP00000385143:R153H;ENSP00000392739:R153H;ENSP00000287272:R153H;ENSP00000412652:R153H;ENSP00000394303:R148H	ENSP00000287272:R153H	R	+	2	0	UNC5D	35545293	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.830000	0.99415	2.443000	0.82685	0.655000	0.94253	CGC		0.517	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			4	102	0	0	0	1	0	4	102					A	35425751	G	A	35425751	3	1	146	1	0	0	0	0	1	0	0	0	16992	1087	38	1	468	1	UNC5D	8	35425751	Missense_Mutation	SNP	G	TCGA-DJ-A3VG-01A-11D-A23M-08	32284049	35425751	110938271	19	3060											
NFKBIL2	4796	broad.mit.edu	37	chr8	145664079	145664079	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtggccctgaagctcctcgTcctcctccagctgcggggtc	13	16	0	1			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr8:145664079T>A	ENST00000409379.3	-	12	1549	c.1520A>T	c.(1519-1521)gAc>gTc	p.D507V	AC084125.4_ENST00000442850.1_RNA|AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	507	Glu-rich.				cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						AAGCTCCTCGTCCTCCTCCAG	0.692																																						ENST00000409379.3																			0				biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						c.(1519-1521)gAc>gTc		tonsoku-like, DNA repair protein							40	37	38					8																	145664079		2202	4300	6502	SO:0001583	missense	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145664079T>A		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"Ankyrin repeat domain containing"	7801	protein-coding gene	gene with protein product		604546	"nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.1520A>T	8.37:g.145664079T>A	ENSP00000386239:p.Asp507Val					AC084125.4_ENST00000442850.1_RNA	p.D507V	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN			12	1549	-			507			Glu-rich.		B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	ENST00000409379.3	37	c.1520A>T	CCDS34968.2	.	.	.	.	.	.	.	.	.	.	T	9.054	0.992752	0.18966	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.48522	0.81	4.48	3.32	0.38043	.	1.301390	0.05227	N	0.509585	T	0.31263	0.0791	N	0.14661	0.345	0.53688	D	0.999975	P	0.49961	0.93	B	0.42319	0.383	T	0.21348	-1.0248	10	0.11485	T	0.65	-0.5923	8.0961	0.30829	0.0:0.098:0.0:0.902	.	507	Q96HA7	TONSL_HUMAN	V	507	ENSP00000386239:D507V	ENSP00000386239:D507V	D	-	2	0	TONSL	145634887	0.992000	0.36948	0.111000	0.21465	0.288000	0.27193	2.464000	0.45067	0.762000	0.33152	0.402000	0.26972	GAC		0.692	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		6	17	0	0	0	1	0	6	17					A	145664079	T	A	145664079	3	1	146	1	0	0	0	0	1	0	0	0	10382	1667	58	5	2676	5	NFKBIL2	8	145664079	Missense_Mutation	SNP	T	TCGA-DJ-A3VG-01A-11D-A23M-08	110238328	145664079	699943	20	3061											
ENTPD7	57089	broad.mit.edu	37	chr10	101464274	101464274	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgtctctcctttgtatacaAccactatctcttctttgcct	3	15	3	0			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr10:101464274A>G	ENST00000370489.4	+	13	1827	c.1649A>G	c.(1648-1650)aAc>aGc	p.N550S	CUTC_ENST00000493385.1_Intron	NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	550						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		TTTGTATACAACCACTATCTC	0.493																																						ENST00000370489.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18						c.(1648-1650)aAc>aGc		ectonucleoside triphosphate diphosphohydrolase 7							204	166	179					10																	101464274		2203	4300	6503	SO:0001583	missense	57089					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity	g.chr10:101464274A>G	AF269255	CCDS7480.1	10q23-q24	2004-07-01			ENSG00000198018	ENSG00000198018			19745	protein-coding gene	gene with protein product						11278936	Standard	NM_020354		Approved	LALP1, FLJ30978	uc001kqa.4	Q9NQZ7	OTTHUMG00000018888	ENST00000370489.4:c.1649A>G	10.37:g.101464274A>G	ENSP00000359520:p.Asn550Ser					CUTC_ENST00000493385.1_Intron	p.N550S	NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)	13	1827	+		Colorectal(252;0.234)	550					B2RB83|B3KP21|D3DR64	Missense_Mutation	SNP	ENST00000370489.4	37	c.1649A>G	CCDS7480.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.305981	0.81247	.	.	ENSG00000198018	ENST00000370489	T	0.14640	2.49	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.30135	0.0755	M	0.65975	2.015	0.80722	D	1	D	0.65815	0.995	D	0.69654	0.965	T	0.11717	-1.0576	10	0.07482	T	0.82	-12.6379	14.8634	0.70397	1.0:0.0:0.0:0.0	.	550	Q9NQZ7	ENTP7_HUMAN	S	550	ENSP00000359520:N550S	ENSP00000359520:N550S	N	+	2	0	ENTPD7	101454264	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.139000	0.94554	2.117000	0.64856	0.459000	0.35465	AAC		0.493	ENTPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049809.2	NM_020354		8	91	0	0	0	1	0	8	91					G	101464274	A	G	101464274	3	3	146	1	0	0	0	0	1	0	0	0	5144	43	2	3	1695	3	ENTPD7	10	101464274	Missense_Mutation	SNP	A	TCGA-DJ-A3VG-01A-11D-A23M-08		101464274	34070473	21	3062											
GSTO2	119391	broad.mit.edu	37	chr10	106058999	106058999	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagggcttcttgaatctctAttttcagaacaaccctaatg	6	11	3	2			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr10:106058999A>G	ENST00000338595.2	+	7	1009	c.689A>G	c.(688-690)tAt>tGt	p.Y230C	GSTO2_ENST00000429569.2_3'UTR|GSTO2_ENST00000450629.2_Missense_Mutation_p.Y196C|GSTO2_ENST00000369707.2_Missense_Mutation_p.Y202C	NM_183239.1	NP_899062.1	Q9H4Y5	GSTO2_HUMAN	glutathione S-transferase omega 2	230	GST C-terminal.				cellular response to arsenic-containing substance (GO:0071243)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione dehydrogenase (ascorbate) activity (GO:0045174)|glutathione transferase activity (GO:0004364)|methylarsonate reductase activity (GO:0050610)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.178)		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	Glutathione(DB00143)	TTGAATCTCTATTTTCAGAAC	0.517																																						ENST00000450629.2																			0				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(586-588)tAt>tGt		glutathione S-transferase omega 2	Glutathione(DB00143)						118	112	114					10																	106058999		2203	4300	6503	SO:0001583	missense	119391				water-soluble vitamin metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr10:106058999A>G	AY191318	CCDS7556.1, CCDS53574.1, CCDS53575.1	10q25.1	2012-06-21			ENSG00000065621	ENSG00000065621	2.5.1.18, 1.8.5.1, 1.20.4.2	"Glutathione S-transferases / Soluble"	23064	protein-coding gene	gene with protein product		612314				12618591	Standard	NM_001191013		Approved		uc001kyb.3	Q9H4Y5	OTTHUMG00000019006	ENST00000338595.2:c.689A>G	10.37:g.106058999A>G	ENSP00000345023:p.Tyr230Cys					GSTO2_ENST00000429569.2_3'UTR|GSTO2_ENST00000369707.1_Missense_Mutation_p.Y202C|GSTO2_ENST00000338595.2_Missense_Mutation_p.Y230C	p.Y196C	NM_001191013.1	NP_001177942.1	Q9H4Y5	GSTO2_HUMAN		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	6	1215	+		Colorectal(252;0.178)	230			GST C-terminal.		A8K771|B4DJW6|E7ESD6|Q49TW5|Q5GM70|Q5JU15|Q86WP3	Missense_Mutation	SNP	ENST00000338595.2	37	c.587A>G	CCDS7556.1	.	.	.	.	.	.	.	.	.	.	A	16.72	3.201785	0.58234	.	.	ENSG00000065621	ENST00000369708;ENST00000338595;ENST00000450629;ENST00000369707	T;T;T	0.15256	2.44;2.44;2.44	5.9	5.9	0.94986	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);	0.052613	0.85682	D	0.000000	T	0.43765	0.1262	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.971;0.997	T	0.40831	-0.9542	10	0.56958	D	0.05	-22.0615	12.7236	0.57156	1.0:0.0:0.0:0.0	.	196;230	B4DJW6;Q9H4Y5	.;GSTO2_HUMAN	C	230;230;196;202	ENSP00000345023:Y230C;ENSP00000390986:Y196C;ENSP00000358721:Y202C	ENSP00000345023:Y230C	Y	+	2	0	GSTO2	106048989	1.000000	0.71417	1.000000	0.80357	0.511000	0.34104	4.667000	0.61561	2.248000	0.74166	0.460000	0.39030	TAT		0.517	GSTO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050210.2	NM_183239		28	79	0	0	0	1	0	28	79					G	106058999	A	G	106058999	3	3	146	1	0	0	0	0	1	0	0	0	6843	449	16	3	711	3	GSTO2	10	106058999	Missense_Mutation	SNP	A	TCGA-DJ-A3VG-01A-11D-A23M-08	4594725	106058999	29475748	22	3063											
MUC5B	727897	broad.mit.edu	37	chr11	1264220	1264220	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggccaccggctctgtggCcaccccctcctccaccccag	10	21	1	0			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr11:1264220C>T	ENST00000529681.1	+	31	6168	c.6110C>T	c.(6109-6111)gCc>gTc	p.A2037V	MUC5B_ENST00000447027.1_Missense_Mutation_p.A2040V|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2037	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGCTCTGTGGCCACCCCCTCC	0.647																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(6118-6120)gCc>gTc		mucin 5B, oligomeric mucus/gel-forming							110	140	130					11																	1264220		2073	4190	6263	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1264220C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.6110C>T	11.37:g.1264220C>T	ENSP00000436812:p.Ala2037Val					MUC5B_ENST00000529681.1_Missense_Mutation_p.A2037V|RP11-532E4.2_ENST00000532061.2_RNA	p.A2040V			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	6177	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2037			11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.6119C>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	7.663	0.685301	0.14973	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.16324	2.35;2.54	2.46	-1.46	0.08800	.	.	.	.	.	T	0.13970	0.0338	L	0.61218	1.895	0.09310	N	1	B;B	0.30068	0.267;0.164	B;B	0.25291	0.059;0.041	T	0.27773	-1.0064	9	0.87932	D	0	.	2.1429	0.03779	0.2407:0.4699:0.1696:0.1197	.	2730;2040	A7Y9J9;E9PBJ0	.;.	V	2037;2040;2038;2107	ENSP00000436812:A2037V;ENSP00000415793:A2040V	ENSP00000343037:A2038V	A	+	2	0	MUC5B	1220796	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.396000	0.07278	-0.582000	0.05929	-0.704000	0.03662	GCC		0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		5	118	0	0	0	1	0	5	118					T	1264220	C	T	1264220	3	4	146	1	0	0	0	0	1	0	0	0	9979	739	26	2	6241	2	MUC5B	11	1264220	Missense_Mutation	SNP	C	TCGA-DJ-A3VG-01A-11D-A23M-08		1264220	133742296	23	3064											
GTF2H1	2965	broad.mit.edu	37	chr11	18354672	18354672	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgtaaagaaagtgcgtcaAaagaagcaggatggagctct	12	5	2	2			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr11:18354672A>G	ENST00000265963.4	+	2	211	c.51A>G	c.(49-51)caA>caG	p.Q17Q	GTF2H1_ENST00000531757.1_3'UTR|GTF2H1_ENST00000534641.1_5'UTR|GTF2H1_ENST00000453096.2_Silent_p.Q17Q	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	17					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|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 initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						AAGTGCGTCAAAAGAAGCAGG	0.393								Nucleotide excision repair (NER)																														ENST00000265963.4																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(49-51)caA>caG	Nucleotide excision repair (NER)	general transcription factor IIH, polypeptide 1, 62kDa							105	100	102					11																	18354672		2199	4293	6492	SO:0001819	synonymous_variant	2965				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding	g.chr11:18354672A>G		CCDS7838.1	11p15.1-p14	2012-11-05	2002-08-29		ENSG00000110768	ENSG00000110768		"General transcription factors", "General transcription factor IIH complex subunits"	4655	protein-coding gene	gene with protein product		189972	"general transcription factor IIH, polypeptide 1 (62kD subunit)"			1529339, 8162052	Standard	NM_005316		Approved	BTF2, P62, TFIIH	uc001moh.2	P32780	OTTHUMG00000167690	ENST00000265963.4:c.51A>G	11.37:g.18354672A>G						GTF2H1_ENST00000453096.2_Silent_p.Q17Q|GTF2H1_ENST00000534641.1_5'UTR|GTF2H1_ENST00000531757.1_3'UTR	p.Q17Q	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN			2	211	+			17					B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Silent	SNP	ENST00000265963.4	37	c.51A>G	CCDS7838.1																																																																																				0.393	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395627.2	NM_005316		12	103	0	0	0	1	0	12	103					G	18354672	A	G	18354672	2	3	146	1	0	0	0	0	0	0	0	1	6860	11	1	3		3	GTF2H1	11	18354672	Silent	SNP	A	TCGA-DJ-A3VG-01A-11D-A23M-08	17090452	18354672	116651844	24	3065											
OR8H2	390151	broad.mit.edu	37	chr11	55872565	55872565	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtggctgacttcatccttaTgggactgacactttctgaag	10	9	2	3			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr11:55872565T>A	ENST00000313503.1	+	1	47	c.47T>A	c.(46-48)aTg>aAg	p.M16K		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TTCATCCTTATGGGACTGACA	0.433										HNSCC(53;0.14)																												ENST00000313503.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61						c.(46-48)aTg>aAg		olfactory receptor, family 8, subfamily H, member 2							230	220	223					11																	55872565		2201	4296	6497	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872565T>A	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"GPCR / Class A : Olfactory receptors"	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.47T>A	11.37:g.55872565T>A	ENSP00000323982:p.Met16Lys	HNSCC(53;0.14)					p.M16K	NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN			1	47	+	Esophageal squamous(21;0.00693)		16					Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.47T>A	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	t	1.762	-0.486464	0.04352	.	.	ENSG00000181767	ENST00000313503	T	0.00444	7.4	3.74	-1.75	0.08031	.	0.791526	0.11667	N	0.541248	T	0.00328	0.0010	L	0.49640	1.575	0.09310	N	0.999992	B	0.20671	0.047	B	0.24006	0.05	T	0.31223	-0.9951	10	0.49607	T	0.09	.	6.2642	0.20917	0.0:0.1771:0.1256:0.6973	.	16	Q8N162	OR8H2_HUMAN	K	16	ENSP00000323982:M16K	ENSP00000323982:M16K	M	+	2	0	OR8H2	55629141	0.001000	0.12720	0.001000	0.08648	0.016000	0.09150	0.070000	0.14573	-0.550000	0.06183	-1.592000	0.00843	ATG		0.433	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		34	235	0	0	0	1	0	34	235					A	55872565	T	A	55872565	3	1	146	1	0	0	0	0	1	0	0	0	11238	1464	51	5	49	5	OR8H2	11	55872565	Missense_Mutation	SNP	T	TCGA-DJ-A3VG-01A-11D-A23M-08	37517893	55872565	79133951	25	3066											
SLC22A24	283238	broad.mit.edu	37	chr11	62850732	62850732	+	Frame_Shift_Del	DEL	T	T	-													caccttggggcaaaaaggtgTtgaccagaatgaaaagtccc							TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr11:62850732delT	ENST00000417740.1	-	7	1709	c.1268delA	c.(1267-1269)aacfs	p.N423fs		NM_001136506.2	NP_001129978.2	Q8N4F4	S22AO_HUMAN	solute carrier family 22, member 24	0					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				kidney(1)|stomach(1)	2						CAAAAAGGTGTTGACCAGAAT	0.458																																						ENST00000417740.1																			0				kidney(1)|stomach(1)	2						c.(1267-1269)acfs		solute carrier family 22, member 24							93	76	81					11																	62850732		692	1591	2283	SO:0001589	frameshift_variant	283238							g.chr11:62850732delT		CCDS73308.1	11q12.3	2013-05-22			ENSG00000197658	ENSG00000197658		"Solute carriers"	28542	protein-coding gene	gene with protein product		611698				17714910	Standard	NM_001136506		Approved	MGC34821, NET46	uc021qkp.1	Q8N4F4	OTTHUMG00000165372	ENST00000417740.1:c.1268delA	11.37:g.62850732delT	ENSP00000396586:p.Asn423fs						p.N423fs	NM_001136506.2	NP_001129978.2					7	1709	-									Frame_Shift_Del	DEL	ENST00000417740.1	37	c.1268delA																																																																																					0.458	SLC22A24-003	PUTATIVE	non_canonical_polymorphism|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000383747.1	NM_173586		2	4						2	4	---	---	---	---	-	62850732	T	-	62850732	7	5	146	1	0	1	0	1	0	0	0	0	14453	1725	60	0	401	0	SLC22A24	11	62850732	Frame_Shift_Del	DEL	T	TCGA-DJ-A3VG-01A-11D-A23M-08	6978167	62850732	72155784	26	3067											
B3GNT1	11041	broad.mit.edu	37	chr11	66114749	66114749	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcacatcgttggggtccaTggtggtcttcagcaggcccc	13	12	3	0			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr11:66114749T>C	ENST00000311181.4	-	1	414	c.268A>G	c.(268-270)Atg>Gtg	p.M90V	BRMS1_ENST00000359957.3_5'Flank|BRMS1_ENST00000425825.2_5'Flank|RP11-867G23.8_ENST00000531602.1_5'Flank	NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	90					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)			breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						TTGGGGTCCATGGTGGTCTTC	0.682																																						ENST00000311181.4																			0				breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						c.(268-270)Atg>Gtg		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1							32	26	28					11																	66114749		2175	4273	6448	SO:0001583	missense	11041				poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	g.chr11:66114749T>C	AF029893	CCDS8136.1	11q13.2	2014-07-08	2006-04-12	2006-04-12	ENSG00000174684	ENSG00000174684	2.4.1.149	"Beta 3-glycosyltransferases"	15685	protein-coding gene	gene with protein product	"N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase"	605517	"UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6"	B3GNT6		9405606	Standard	NM_006876		Approved	iGNT, iGAT, iGnT, BETA3GNTI, B3GN-T1	uc001ohr.3	O43505	OTTHUMG00000167082	ENST00000311181.4:c.268A>G	11.37:g.66114749T>C	ENSP00000309096:p.Met90Val						p.M90V	NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN			1	414	-			90					Q4TTN0	Missense_Mutation	SNP	ENST00000311181.4	37	c.268A>G	CCDS8136.1	.	.	.	.	.	.	.	.	.	.	T	0.044	-1.274852	0.01410	.	.	ENSG00000174684	ENST00000311181	T	0.55413	0.52	5.18	-0.0723	0.13740	.	0.336744	0.32563	N	0.005925	T	0.21103	0.0508	N	0.08118	0	0.26475	N	0.975214	B	0.06786	0.001	B	0.01281	0.0	T	0.05500	-1.0881	10	0.15952	T	0.53	-31.9784	1.2661	0.02011	0.259:0.0874:0.2777:0.376	.	90	O43505	B3GN1_HUMAN	V	90	ENSP00000309096:M90V	ENSP00000309096:M90V	M	-	1	0	B3GNT1	65871325	0.841000	0.29509	1.000000	0.80357	0.124000	0.20399	0.994000	0.29693	0.357000	0.24183	-0.656000	0.03901	ATG		0.682	B3GNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392959.1	NM_006876		2	1	0	0	0	1	0	2	1					C	66114749	T	C	66114749	3	2	146	1	0	0	0	0	1	0	0	0	1256	1464	51	3	987	3	B3GNT1	11	66114749	Missense_Mutation	SNP	T	TCGA-DJ-A3VG-01A-11D-A23M-08	3264017	66114749	68891767	27	3068											
PRMT8	56341	broad.mit.edu	37	chr12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggtgaacagcccccccTcccagcccccccagcccgtc	7	24	1	1			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr12:3649787T>C	ENST00000382622.3	+	2	481	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	31					histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652																																						ENST00000382622.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37						c.(91-93)Tcc>Ccc		protein arginine methyltransferase 8							41	51	47					12																	3649787		2199	4299	6498	SO:0001583	missense	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3649787T>C	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"Protein arginine methyltransferases"	5188	protein-coding gene	gene with protein product		610086	"HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)", "HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.91T>C	12.37:g.3649787T>C	ENSP00000372067:p.Ser31Pro					PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	p.S31P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		2	481	+			31					B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	c.91T>C	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834665	0.50951	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.30182	1.65;1.54	5.52	-6.61	0.01818	.	0.606566	0.17318	N	0.178612	T	0.16171	0.0389	L	0.43152	1.355	0.28544	N	0.911948	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.09997	-1.0649	10	0.29301	T	0.29	.	3.8844	0.09091	0.1085:0.1587:0.4822:0.2506	.	22;31	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	P	22;31	ENSP00000414507:S22P;ENSP00000372067:S31P	ENSP00000372067:S31P	S	+	1	0	PRMT8	3520048	0.000000	0.05858	0.001000	0.08648	0.946000	0.59487	-0.825000	0.04433	-0.996000	0.03455	0.460000	0.39030	TCC		0.652	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		10	71	0	0	0	1	0	10	71					C	3649787	T	C	3649787	3	2	146	1	0	0	0	0	1	0	0	0	12542	1551	54	3	97	3	PRMT8	12	3649787	Missense_Mutation	SNP	T	TCGA-DJ-A3VG-01A-11D-A23M-08		3649787	130202108	28	3069											
NACA	4666	broad.mit.edu	37	chr12	57112308	57112308	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggcccctttgggggatggAgtagctggacctcctttggg	18	9	0	0	rs534390661	byFrequency	TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr12:57112308A>G	ENST00000454682.1	-	3	3287	c.3006T>C	c.(3004-3006)acT>acC	p.T1002T	NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1002	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGGGGATGGAGTAGCTGGAC	0.652			T	BCL6	NHL								-|||	23	0.00459265	0.0061	0.0014	5008	,	,		6788	0.006		0.007	False		,,,				2504	0.001					ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3004-3006)acT>acC		nascent polypeptide-associated complex alpha subunit							33	40	38					12																	57112308		1518	3502	5020	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57112308A>G	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3006T>C	12.37:g.57112308A>G						NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron	p.T1002T	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3287	-			0						Silent	SNP	ENST00000454682.1	37	c.3006T>C																																																																																					0.652	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		10	90	0	0	0	1	0	10	90					G	57112308	A	G	57112308	2	3	146	1	0	0	0	0	0	0	0	1	10133	291	11	3		3	NACA	12	57112308	Silent	SNP	A	TCGA-DJ-A3VG-01A-11D-A23M-08	53462521	57112308	76739587	29	3070											
PRKCSH	5589	broad.mit.edu	37	chr19	11557156	11557156	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggggcgttgtcagaagcGgaagctcaggtacccccggc	16	11	2	1			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr19:11557156G>A	ENST00000589838.1	+	8	753	c.753G>A	c.(751-753)gcG>gcA	p.A251A	PRKCSH_ENST00000592741.1_Silent_p.A251A|PRKCSH_ENST00000412601.1_Silent_p.A251A|PRKCSH_ENST00000252455.2_Silent_p.A251A|PRKCSH_ENST00000587327.1_Silent_p.A251A|PRKCSH_ENST00000591462.1_Silent_p.A251A			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	251	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						TGTCAGAAGCGGAAGCTCAGG	0.647																																						ENST00000252455.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						c.(751-753)gcG>gcA		protein kinase C substrate 80K-H							78	65	69					19																	11557156		2203	4299	6502	SO:0001819	synonymous_variant	5589				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding	g.chr19:11557156G>A		CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"EF-hand domain containing"	9411	protein-coding gene	gene with protein product		177060	"polycystic liver disease"	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.753G>A	19.37:g.11557156G>A						PRKCSH_ENST00000591462.1_Silent_p.A251A|PRKCSH_ENST00000589838.1_Silent_p.A251A|PRKCSH_ENST00000412601.1_Silent_p.A251A|PRKCSH_ENST00000592741.1_Silent_p.A251A|PRKCSH_ENST00000587327.1_Silent_p.A251A	p.A251A	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN			9	1089	+			251			EF-hand 2.		A8K318|Q96BU9|Q96D06|Q9P0W9	Silent	SNP	ENST00000589838.1	37	c.753G>A	CCDS32911.1																																																																																				0.647	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			3	19	0	0	0	1	0	3	19					A	11557156	G	A	11557156	2	1	146	1	0	0	0	0	0	0	0	1	12516	1103	39	1		1	PRKCSH	19	11557156	Silent	SNP	G	TCGA-DJ-A3VG-01A-11D-A23M-08		11557156	47571827	30	3071											
CASP14	23581	broad.mit.edu	37	chr19	15166255	15166255	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaggatacatcgcctacCgacatgatcagaaaggctca	8	13	2	2	rs546136139		TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr19:15166255C>T	ENST00000427043.3	+	6	843	c.535C>T	c.(535-537)Cga>Tga	p.R179*	CASP14_ENST00000221740.1_Nonsense_Mutation_p.R179*|AC004699.1_ENST00000411269.1_RNA	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	179					cornification (GO:0070268)|epidermis development (GO:0008544)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinization (GO:0031424)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)	p.R179*(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						CATCGCCTACCGACATGATCA	0.537													C|||	1	0.000199681	0	0	5008	,	,		18249	0		0.001	False		,,,				2504	0					ENST00000427043.3																			1	Substitution - Nonsense(1)	p.R179*(1)	large_intestine(1)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						c.(535-537)Cga>Tga		caspase 14, apoptosis-related cysteine peptidase							108	93	98					19																	15166255		2203	4300	6503	SO:0001587	stop_gained	23581				apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity	g.chr19:15166255C>T		CCDS12323.1	19p13.1	2008-07-16	2005-08-17			ENSG00000105141			1502	protein-coding gene	gene with protein product	"apoptosis-related cysteine protease"	605848	"caspase 14, apoptosis-related cysteine protease"			10203698, 9792675	Standard	NM_012114		Approved	MICE, MGC119078, MGC119079	uc010dzv.2	P31944		ENST00000427043.3:c.535C>T	19.37:g.15166255C>T	ENSP00000393417:p.Arg179*					CASP14_ENST00000221740.1_Nonsense_Mutation_p.R179*	p.R179*	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN			6	843	+			179					O95823|Q3SYC9	Nonsense_Mutation	SNP	ENST00000427043.3	37	c.535C>T	CCDS12323.1	.	.	.	.	.	.	.	.	.	.	c	18.14	3.557660	0.65425	.	.	ENSG00000105141	ENST00000427043;ENST00000221740	.	.	.	4.5	2.0	0.26442	.	0.224065	0.30940	N	0.008578	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8118	0.34971	0.4818:0.5181:0.0:0.0	.	.	.	.	X	179	.	ENSP00000221740:R179X	R	+	1	2	CASP14	15027255	0.998000	0.40836	0.999000	0.59377	0.061000	0.15899	1.156000	0.31712	0.681000	0.31386	-0.521000	0.04368	CGA		0.537	CASP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465663.1	NM_012114		29	53	0	0	0	1	0	29	53					T	15166255	C	T	15166255	4	4	146	1	0	0	0	0	0	1	0	0	2670	644	23	1	553	1	CASP14	19	15166255	Nonsense_Mutation	SNP	C	TCGA-DJ-A3VG-01A-11D-A23M-08	3609099	15166255	43962728	31	3072											
CSNK2A1	1457	broad.mit.edu	37	chr20	472948	472948	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtatcgggaagcaactcGgacattatattcttggccag	11	8	1	0			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr20:472948G>A	ENST00000217244.3	-	9	946	c.571C>T	c.(571-573)Cga>Tga	p.R191*	CSNK2A1_ENST00000349736.5_Nonsense_Mutation_p.R191*|CSNK2A1_ENST00000400227.3_Nonsense_Mutation_p.R191*|CSNK2A1_ENST00000400217.2_Nonsense_Mutation_p.R55*	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	191	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			GAAGCAACTCGGACATTATAT	0.413																																						ENST00000217244.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17						c.(571-573)Cga>Tga		casein kinase 2, alpha 1 polypeptide							87	80	82					20																	472948		2203	4297	6500	SO:0001587	stop_gained	1457				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	g.chr20:472948G>A	M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.571C>T	20.37:g.472948G>A	ENSP00000217244:p.Arg191*					CSNK2A1_ENST00000400217.1_Nonsense_Mutation_p.R55*|CSNK2A1_ENST00000400227.3_Nonsense_Mutation_p.R191*|CSNK2A1_ENST00000460062.1_5'UTR|CSNK2A1_ENST00000349736.5_Nonsense_Mutation_p.R191*	p.R191*	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.0969)		9	946	-		Breast(17;0.231)	191			Protein kinase.		B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Nonsense_Mutation	SNP	ENST00000217244.3	37	c.571C>T	CCDS13003.1	.	.	.	.	.	.	.	.	.	.	G	39	7.581408	0.98371	.	.	ENSG00000101266	ENST00000400227;ENST00000349736;ENST00000217244;ENST00000381973;ENST00000400217	.	.	.	4.84	2.83	0.33086	.	0.049668	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.8796	12.789	0.57522	0.0:0.0:0.5322:0.4678	.	.	.	.	X	191;191;191;191;55	.	ENSP00000217244:R191X	R	-	1	2	CSNK2A1	420948	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.032000	0.41127	0.701000	0.31803	0.655000	0.94253	CGA		0.413	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077466.1	NM_001895		16	30	0	0	0	1	0	16	30					A	472948	G	A	472948	4	1	146	1	0	0	0	0	0	1	0	0	3957	1124	39	1	628	1	CSNK2A1	20	472948	Nonsense_Mutation	SNP	G	TCGA-DJ-A3VG-01A-11D-A23M-08		472948	62552572	32	3073											
TGM6	343641	broad.mit.edu	37	chr20	2375994	2375994	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgctgtcattggccgctaCctgctgagcatcaggctttc	11	12	2	1			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr20:2375994C>T	ENST00000202625.2	+	3	397	c.336C>T	c.(334-336)taC>taT	p.Y112Y	TGM6_ENST00000381423.1_Silent_p.Y112Y|TGM6_ENST00000477505.1_Intron	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	112					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TTGGCCGCTACCTGCTGAGCA	0.597																																						ENST00000202625.2																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52						c.(334-336)taC>taT		transglutaminase 6	L-Glutamine(DB00130)						94	83	87					20																	2375994		2203	4300	6503	SO:0001819	synonymous_variant	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2375994C>T	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"Transglutaminases"	16255	protein-coding gene	gene with protein product	"spinocerebellar ataxia 35"	613900	"transglutaminase 3-like"	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.336C>T	20.37:g.2375994C>T						TGM6_ENST00000477505.1_Intron|TGM6_ENST00000381423.1_Silent_p.Y112Y	p.Y112Y	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN			3	397	+			112					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Silent	SNP	ENST00000202625.2	37	c.336C>T	CCDS13025.1																																																																																				0.597	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		36	50	0	0	0	1	0	36	50					T	2375994	C	T	2375994	2	4	146	1	0	0	0	0	0	0	0	1	15831	518	18	2		2	TGM6	20	2375994	Silent	SNP	C	TCGA-DJ-A3VG-01A-11D-A23M-08	1903046	2375994	60649526	33	3074											
C20orf151	140893	broad.mit.edu	37	chr20	60989556	60989556	+	Frame_Shift_Del	DEL	G	G	-													ggcagagccggtccaccttcGgggagagcttcggggcctca							TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr20:60989556delG	ENST00000252998.1	-	10	1007	c.851delC	c.(850-852)ccgfs	p.P284fs		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	284						extracellular space (GO:0005615)											GTCCACCTTCGGGGAGAGCTT	0.701																																						ENST00000252998.1																			0											c.(850-852)cgfs		RBBP8 N-terminal like							4	5	5					20																	60989556		2039	4078	6117	SO:0001589	frameshift_variant	140893							g.chr20:60989556delG	AL121832	CCDS13498.1	20q13.33	2012-10-30	2012-10-30	2012-10-30	ENSG00000130701	ENSG00000130701			16144	protein-coding gene	gene with protein product	"hypothetical protein LOC140893"		"chromosome 20 open reading frame 151"	C20orf151		11780052	Standard	NM_080833		Approved	dJ908M14.3	uc002ycw.2	Q8NC74	OTTHUMG00000032913	ENST00000252998.1:c.851delC	20.37:g.60989556delG	ENSP00000252998:p.Pro284fs						p.P284fs	NM_080833.2	NP_543023.2					10	1007	-								B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Frame_Shift_Del	DEL	ENST00000252998.1	37	c.851delC	CCDS13498.1																																																																																				0.701	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080029.1	NM_080833		2	4						2	4	---	---	---	---	-	60989556	G	-	60989556	7	5	146	1	0	1	0	1	0	0	0	0	2091	1116	39	0	1163	0	C20orf151	20	60989556	Frame_Shift_Del	DEL	G	TCGA-DJ-A3VG-01A-11D-A23M-08	58613562	60989556	2035964	34	3075											
AIFM3	150209	broad.mit.edu	37	chr22	21327670	21327670	+	Frame_Shift_Del	DEL	A	A	-													tgtcggccagtgggaagggcAgcccccgggcctaccagggc							TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr22:21327670delA	ENST00000399167.2	+	3	346	c.106delA	c.(106-108)agcfs	p.S36fs	AIFM3_ENST00000399163.2_Frame_Shift_Del_p.S36fs|AIFM3_ENST00000333607.6_Frame_Shift_Del_p.S36fs|AIFM3_ENST00000335375.5_Frame_Shift_Del_p.A61fs|AIFM3_ENST00000440238.2_Frame_Shift_Del_p.S36fs|AIFM3_ENST00000405089.1_Frame_Shift_Del_p.S42fs	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	36					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGGGAAGGGCAGCCCCCGGGC	0.677																																						ENST00000399167.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(106-108)gcfs		apoptosis-inducing factor, mitochondrion-associated, 3							25	24	25					22																	21327670		2199	4298	6497	SO:0001589	frameshift_variant	150209							g.chr22:21327670delA	AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.106delA	22.37:g.21327670delA	ENSP00000382120:p.Ser36fs					AIFM3_ENST00000399163.2_Frame_Shift_Del_p.S36fs|AIFM3_ENST00000335375.5_Frame_Shift_Del_p.A61fs|AIFM3_ENST00000333607.6_Frame_Shift_Del_p.S36fs|AIFM3_ENST00000405089.1_Frame_Shift_Del_p.S42fs|AIFM3_ENST00000440238.2_Frame_Shift_Del_p.S36fs	p.S36fs	NM_144704.2	NP_653305.1			LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		3	346	+	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)						B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Frame_Shift_Del	DEL	ENST00000399167.2	37	c.106delA	CCDS13786.1																																																																																				0.677	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704		5	9						5	9	---	---	---	---	-	21327670	A	-	21327670	7	5	146	1	0	1	0	1	0	0	0	0	428	188	7	0	130	0	AIFM3	22	21327670	Frame_Shift_Del	DEL	A	TCGA-DJ-A3VG-01A-11D-A23M-08		21327670	29976896	35	3076											
PCDH19	57526	broad.mit.edu	37	chrX	99657627	99657627	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgttgcgggtattctgGttctccacattcaggaaagt	12	8	3	0			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chrX:99657627G>C	ENST00000373034.4	-	3	4186	c.2511C>G	c.(2509-2511)aaC>aaG	p.N837K	PCDH19_ENST00000255531.7_Missense_Mutation_p.N790K|PCDH19_ENST00000420881.2_Missense_Mutation_p.N790K	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	837					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GGGTATTCTGGTTCTCCACAT	0.567																																						ENST00000373034.4																			0				breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(2509-2511)aaC>aaG		protocadherin 19							125	117	119					X																	99657627		2050	4177	6227	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99657627G>C	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"Cadherins / Protocadherins : Non-clustered"	14270	protein-coding gene	gene with protein product		300460	"epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.2511C>G	X.37:g.99657627G>C	ENSP00000362125:p.Asn837Lys					PCDH19_ENST00000255531.7_Missense_Mutation_p.N790K|PCDH19_ENST00000420881.2_Missense_Mutation_p.N790K	p.N837K	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			3	4186	-			837					B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.2511C>G	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	g	11.73	1.726722	0.30593	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.51574	0.7;0.73;0.7	5.64	4.78	0.61160	.	0.093683	0.85682	D	0.000000	T	0.31199	0.0789	N	0.22421	0.69	0.53688	D	0.999977	P;B;B	0.35433	0.501;0.043;0.025	B;B;B	0.30401	0.115;0.076;0.035	T	0.12656	-1.0539	10	0.51188	T	0.08	.	10.1203	0.42616	0.1564:0.0:0.8436:0.0	.	837;790;790	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	K	790;837;790	ENSP00000400327:N790K;ENSP00000362125:N837K;ENSP00000255531:N790K	ENSP00000255531:N790K	N	-	3	2	PCDH19	99544283	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.769000	0.55303	1.150000	0.42419	0.594000	0.82650	AAC		0.567	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		22	3	0	0	0	1	0	22	3					C	99657627	G	C	99657627	3	2	146	1	0	0	0	0	1	0	0	0	11514	1252	44	4	951	4	PCDH19	23	99657627	Missense_Mutation	SNP	G	TCGA-DJ-A3VG-01A-11D-A23M-08		99657627	55612933	36	3077											
FGGY	55277	broad.mit.edu	37	chr1	59922666	59922666	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgtgtaagtggacataTtcagcagagaaaggctggga	15	5	1	1			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr1:59922666T>C	ENST00000303721.7	+	6	762	c.588T>C	c.(586-588)taT>taC	p.Y196Y	FGGY_ENST00000371218.4_Silent_p.Y196Y|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371212.1_Silent_p.Y108Y	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	196					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					AGTGGACATATTCAGCAGAGA	0.373																																						ENST00000371218.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(586-588)taT>taC		FGGY carbohydrate kinase domain containing							140	137	138					1																	59922666		2203	4300	6503	SO:0001819	synonymous_variant	55277				carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:59922666T>C		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.588T>C	1.37:g.59922666T>C						FGGY_ENST00000303721.7_Silent_p.Y196Y|FGGY_ENST00000371212.1_Silent_p.Y108Y|FGGY_ENST00000474476.1_3'UTR	p.Y196Y	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN			6	772	+	all_cancers(7;7.36e-05)		196					B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Silent	SNP	ENST00000303721.7	37	c.588T>C	CCDS611.2																																																																																				0.373	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411		8	62	0	0	0	1	0	8	62					C	59922666	T	C	59922666	2	2	147	1	0	0	0	0	0	0	0	1	5871	1500	52	3		3	FGGY	1	59922666	Silent	SNP	T	TCGA-DJ-A3VI-01A-11D-A23M-08		59922666	189327955	1	3078											
TNR	7143	broad.mit.edu	37	chr1	175328868	175328868	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccacagggttgtccatggCtgaaacagaatagattatca	9	8	1	3			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr1:175328868C>T	ENST00000367674.2	-	15	3563		c.e15-1		TNR_ENST00000263525.2_Splice_Site			Q92752	TENR_HUMAN	tenascin R						associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TTGTCCATGGCTGAAACAGAA	0.483																																						ENST00000367674.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.e15-1		tenascin R							82	72	75					1																	175328868		2203	4300	6503	SO:0001630	splice_region_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175328868C>T	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.2855-1G>A	1.37:g.175328868C>T						TNR_ENST00000263525.2_Splice_Site		NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			15	3563	-	Renal(580;0.146)							C9J563|Q15568|Q5R3G0	Splice_Site	SNP	ENST00000367674.2	37		CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835638	0.91117	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.76	0.96311	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TNR	173595491	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.228000	0.78079	2.753000	0.94483	0.655000	0.94253	.		0.483	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285	Intron	17	32	0	0	0	1	0	17	32					T	175328868	C	T	175328868	5	4	147	1	0	0	0	0	0	0	1	0	16335	811	28	2	1258	2	TNR	1	175328868	Splice_Site	SNP	C	TCGA-DJ-A3VI-01A-11D-A23M-08	115406202	175328868	73921753	2	3079											
ABCA12	26154	broad.mit.edu	37	chr2	215896644	215896644	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtaataatttttatatagGtaaacatttaacatgtttgc	5	3	0	0			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr2:215896644G>A	ENST00000272895.7	-	9	1205				AC072062.3_ENST00000437897.3_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.T3I	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12						cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTTATATAGGTAAACATTTA	0.368																																					Ovarian(66;664 1488 5121 34295)	ENST00000389661.4																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(7-9)aCc>aTc		ATP-binding cassette, sub-family A (ABC1), member 12							87	91	90					2																	215896644		2203	4300	6503	SO:0001627	intron_variant	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215896644G>A	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.986-24C>T	2.37:g.215896644G>A						AC072062.3_ENST00000437897.3_RNA|ABCA12_ENST00000272895.7_Intron	p.T3I	NM_015657.3	NP_056472.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	1	166	-		Renal(323;0.127)	0					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.8C>T	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321372	0.41096	.	.	ENSG00000144452	ENST00000389661	D	0.88046	-2.33	5.25	2.41	0.29592	.	.	.	.	.	T	0.74981	0.3788	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.58679	-0.7594	7	.	.	.	.	5.4438	0.16523	0.1781:0.0:0.6585:0.1634	.	3	Q86UK0-2	.	I	3	ENSP00000374312:T3I	.	T	-	2	0	ABCA12	215604889	0.001000	0.12720	0.001000	0.08648	0.527000	0.34593	0.111000	0.15458	0.721000	0.32231	0.650000	0.86243	ACC		0.368	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		5	57	0	0	0	1	0	5	57					A	215896644	G	A	215896644	1	1	147	0	1	0	0	0	0	0	0	0	30	1261	44	2		2	ABCA12	2	215896644	Intron	SNP	G	TCGA-DJ-A3VI-01A-11D-A23M-08		215896644	27302729	3	3080											
ADAMTS9	56999	broad.mit.edu	37	chr3	64640262	64640262	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actcacctaaggtatcacatTtgtcgtgagctctgcagata	8	10	3	2			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr3:64640262T>G	ENST00000498707.1	-	7	1538	c.1196A>C	c.(1195-1197)aAa>aCa	p.K399T	ADAMTS9_ENST00000459780.1_Missense_Mutation_p.K399T|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.K371T	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	399	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GGTATCACATTTGTCGTGAGC	0.383																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(1195-1197)aAa>aCa		ADAM metallopeptidase with thrombospondin type 1 motif, 9							129	124	126					3																	64640262		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64640262T>G	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.1196A>C	3.37:g.64640262T>G	ENSP00000418735:p.Lys399Thr					ADAMTS9_ENST00000459780.1_Missense_Mutation_p.K399T|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.K371T	p.K399T	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	7	1538	-		Lung NSC(201;0.00682)	399			Peptidase M12B.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.1196A>C	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.784612	0.90282	.	.	ENSG00000163638	ENST00000295903;ENST00000498707;ENST00000459780	T;T;T	0.63580	-0.05;-0.05;-0.05	5.45	5.45	0.79879	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.75287	0.3829	L	0.55990	1.75	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.995	D;D;D;D	0.91635	0.99;0.983;0.999;0.934	T	0.76675	-0.2872	10	0.54805	T	0.06	.	15.5118	0.75789	0.0:0.0:0.0:1.0	.	371;399;399;399	B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4	.;.;.;ATS9_HUMAN	T	371;399;399	ENSP00000295903:K371T;ENSP00000418735:K399T;ENSP00000419217:K399T	ENSP00000295903:K371T	K	-	2	0	ADAMTS9	64615302	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.958000	0.87877	2.069000	0.61940	0.533000	0.62120	AAA		0.383	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			4	85	0	0	0	1	0	4	85					G	64640262	T	G	64640262	3	3	147	1	0	0	0	0	1	0	0	0	273	1841	64	5	4743	5	ADAMTS9	3	64640262	Missense_Mutation	SNP	T	TCGA-DJ-A3VI-01A-11D-A23M-08		64640262	133382168	4	3081											
DNAJC13	23317	broad.mit.edu	37	chr3	132229980	132229980	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccaatacttgcacacattcAtggccatcacacacgcggca	6	16	2	0			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr3:132229980A>G	ENST00000260818.6	+	44	5433	c.5185A>G	c.(5185-5187)Atg>Gtg	p.M1729V		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1729					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GCACACATTCATGGCCATCAC	0.433																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(5185-5187)Atg>Gtg		DnaJ (Hsp40) homolog, subfamily C, member 13							145	145	145					3																	132229980		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132229980A>G	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.5185A>G	3.37:g.132229980A>G	ENSP00000260818:p.Met1729Val						p.M1729V	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			44	5433	+			1729					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.5185A>G	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	A	10.82	1.458396	0.26248	.	.	ENSG00000138246	ENST00000260818;ENST00000538066	T	0.16196	2.36	5.76	5.76	0.90799	Armadillo-type fold (1);	0.052745	0.85682	D	0.000000	T	0.12518	0.0304	N	0.17474	0.49	0.43583	D	0.995929	B	0.15141	0.012	B	0.12156	0.007	T	0.11916	-1.0568	10	0.27082	T	0.32	.	16.0676	0.80897	1.0:0.0:0.0:0.0	.	1729	O75165	DJC13_HUMAN	V	1729;376	ENSP00000260818:M1729V	ENSP00000260818:M1729V	M	+	1	0	DNAJC13	133712670	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.742000	0.74843	2.201000	0.70794	0.533000	0.62120	ATG		0.433	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		61	85	0	0	0	1	0	61	85					G	132229980	A	G	132229980	3	3	147	1	0	0	0	0	1	0	0	0	4632	217	8	3	5355	3	DNAJC13	3	132229980	Missense_Mutation	SNP	A	TCGA-DJ-A3VI-01A-11D-A23M-08	67589718	132229980	65792450	5	3082											
MUC20	200958	broad.mit.edu	37	chr3	195453270	195453270	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggacatcgcaaccaaggggcCcttccccaccagcagggacc	11	17	0	0			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr3:195453270C>G	ENST00000447234.2	+	2	1922	c.1796C>G	c.(1795-1797)cCc>cGc	p.P599R	MUC20_ENST00000436408.1_Missense_Mutation_p.P599R|MUC20_ENST00000320736.6_Missense_Mutation_p.P428R|MUC20_ENST00000445522.2_Missense_Mutation_p.P564R	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	599	Involved in oligomerization.|Thr-rich.				activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		ACCAAGGGGCCCTTCCCCACC	0.597																																						ENST00000320736.6																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23						c.(1282-1284)cCc>cGc		mucin 20, cell surface associated							62	63	63					3																	195453270		2083	4200	6283	SO:0001583	missense	200958				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane		g.chr3:195453270C>G	AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"Mucins"	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1796C>G	3.37:g.195453270C>G	ENSP00000414350:p.Pro599Arg					MUC20_ENST00000445522.2_Missense_Mutation_p.P564R|MUC20_ENST00000447234.2_Missense_Mutation_p.P599R|MUC20_ENST00000436408.1_Missense_Mutation_p.P599R	p.P428R	NM_001098516.1|NM_152673.2	NP_001091986.1|NP_689886.2	Q8N307	MUC20_HUMAN	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)	3	1409	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	599					Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Missense_Mutation	SNP	ENST00000447234.2	37	c.1283C>G		.	.	.	.	.	.	.	.	.	.	C	13.52	2.262488	0.39995	.	.	ENSG00000176945	ENST00000381954;ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522	T;T;T;T	0.14516	2.92;2.93;3.09;2.5	4.27	-1.52	0.08637	.	1.353380	0.04983	N	0.465909	T	0.10078	0.0247	L	0.34521	1.04	0.09310	N	1	B	0.27656	0.184	B	0.29176	0.099	T	0.39901	-0.9591	10	0.72032	D	0.01	0.6259	1.104	0.01690	0.1648:0.2941:0.3222:0.2188	.	428	E9PH32	.	R	410;599;428;599;564	ENSP00000414350:P599R;ENSP00000325431:P428R;ENSP00000396774:P599R;ENSP00000405629:P564R	ENSP00000325431:P428R	P	+	2	0	MUC20	196938941	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.206000	0.09398	-0.098000	0.12285	0.563000	0.77884	CCC		0.597	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1	NM_152673		14	38	0	0	0	1	0	14	38					G	195453270	C	G	195453270	3	3	147	1	0	0	0	0	1	0	0	0	9976	623	22	4	1293	4	MUC20	3	195453270	Missense_Mutation	SNP	C	TCGA-DJ-A3VI-01A-11D-A23M-08	63223290	195453270	2569160	6	3083											
ARSJ	79642	broad.mit.edu	37	chr4	114824011	114824011	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagcgaagaccctcacttaTggtctcccagatatcatagc	8	12	3	3	rs184463690	byFrequency	TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr4:114824011T>C	ENST00000315366.7	-	2	2085	c.1219A>G	c.(1219-1221)Ata>Gta	p.I407V	ARSJ_ENST00000541197.1_Missense_Mutation_p.I407V	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	407					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		CCCTCACTTATGGTCTCCCAG	0.473													T|||	3	0.000599042	0.0015	0.0014	5008	,	,		21851	0		0	False		,,,				2504	0					ENST00000315366.7																			0				endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21						c.(1219-1221)Ata>Gta		arylsulfatase family, member J							154	149	151					4																	114824011		1954	4165	6119	SO:0001583	missense	79642					extracellular region	arylsulfatase activity|metal ion binding	g.chr4:114824011T>C		CCDS43264.1	4q26	2013-02-14	2006-03-07		ENSG00000180801	ENSG00000180801		"Arylsulfatase family"	26286	protein-coding gene	gene with protein product		610010	"arylsulfatase J"			12975309, 16174644	Standard	NM_024590		Approved	FLJ23548	uc003ibq.1	Q5FYB0	OTTHUMG00000161067	ENST00000315366.7:c.1219A>G	4.37:g.114824011T>C	ENSP00000320219:p.Ile407Val					ARSJ_ENST00000541197.1_Missense_Mutation_p.I407V	p.I407V	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00194)	2	2085	-		Ovarian(17;0.0035)|Hepatocellular(203;0.217)	407					A2RUG0|B7ZM45|Q1HA39|Q5FWE4|Q6UWT9	Missense_Mutation	SNP	ENST00000315366.7	37	c.1219A>G	CCDS43264.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	T	16.64	3.178943	0.57692	.	.	ENSG00000180801	ENST00000315366;ENST00000541197	D;D	0.96365	-3.99;-3.99	5.64	4.44	0.53790	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.96889	0.8984	M	0.63208	1.945	0.39740	D	0.971739	P;P	0.41080	0.737;0.737	P;P	0.55303	0.605;0.773	D	0.96696	0.9514	10	0.54805	T	0.06	.	12.9109	0.58179	0.0:0.0:0.1357:0.8643	.	407;407	Q1HA39;Q5FYB0	.;ARSJ_HUMAN	V	407	ENSP00000320219:I407V;ENSP00000438836:I407V	ENSP00000320219:I407V	I	-	1	0	ARSJ	115043460	1.000000	0.71417	0.976000	0.42696	0.981000	0.71138	2.718000	0.47236	0.943000	0.37553	0.533000	0.62120	ATA		0.473	ARSJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363650.1	NM_024590		9	131	0	0	0	1	0	9	131					C	114824011	T	C	114824011	3	2	147	1	0	0	0	0	1	0	0	0	995	1464	51	3	584	3	ARSJ	4	114824011	Missense_Mutation	SNP	T	TCGA-DJ-A3VI-01A-11D-A23M-08		114824011	76330265	7	3084											
GDNF	2668	broad.mit.edu	37	chr5	37815925	37815925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcaatattttgtcgtacGttgtctcagctgcatcgcaa	7	9	2	0	rs200174030		TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr5:37815925G>A	ENST00000326524.2	-	3	663	c.464C>T	c.(463-465)aCg>aTg	p.T155M	GDNF_ENST00000515058.1_Missense_Mutation_p.T129M|GDNF_ENST00000381826.4_Missense_Mutation_p.T146M|GDNF_ENST00000427982.1_Missense_Mutation_p.T172M|GDNF_ENST00000344622.4_Missense_Mutation_p.T129M	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	155					adult locomotory behavior (GO:0008344)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|enteric nervous system development (GO:0048484)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|metanephros development (GO:0001656)|mRNA stabilization (GO:0048255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neuron projection development (GO:0031175)|organ induction (GO:0001759)|peristalsis (GO:0030432)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|postganglionic parasympathetic nervous system development (GO:0021784)|postsynaptic membrane organization (GO:0001941)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of morphogenesis of a branching structure (GO:0060688)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|ureteric bud formation (GO:0060676)	extracellular region (GO:0005576)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					TTTGTCGTACGTTGTCTCAGC	0.453																																						ENST00000326524.2																			0				NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15						c.(463-465)aCg>aTg		glial cell derived neurotrophic factor							120	117	118					5																	37815925		2203	4300	6503	SO:0001583	missense	2668				adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity	g.chr5:37815925G>A		CCDS3922.1, CCDS3923.1, CCDS54845.1, CCDS54846.1, CCDS75237.1	5p13.1-p12	2014-01-30			ENSG00000168621	ENSG00000168621		"Endogenous ligands"	4232	protein-coding gene	gene with protein product	"astrocyte-derived trophic factor", "glial cell line derived neurotrophic factor", "glial derived neurotrophic factor"	600837				8493557	Standard	NM_199231		Approved	ATF1, ATF2, HFB1-GDNF	uc011cpg.2	P39905	OTTHUMG00000090809	ENST00000326524.2:c.464C>T	5.37:g.37815925G>A	ENSP00000317145:p.Thr155Met					GDNF_ENST00000515058.1_Missense_Mutation_p.T129M|GDNF_ENST00000344622.4_Missense_Mutation_p.T129M|GDNF_ENST00000381826.4_Missense_Mutation_p.T146M|GDNF_ENST00000427982.1_Missense_Mutation_p.T172M	p.T155M	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN			3	663	-	all_lung(31;0.00118)		155					B7WPK7|O95448|O95449|O95986|Q6FH33|Q96L44|Q9UD32|Q9UD33|Q9UMV2|Q9UP67|Q9UP97	Missense_Mutation	SNP	ENST00000326524.2	37	c.464C>T	CCDS3922.1	.	.	.	.	.	.	.	.	.	.	G	5.645	0.303714	0.10678	.	.	ENSG00000168621	ENST00000326524;ENST00000344622;ENST00000515058;ENST00000427982;ENST00000381826	D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81	5.76	-0.187	0.13268	Transforming growth factor-beta, C-terminal (3);	0.297798	0.42053	N	0.000761	T	0.73353	0.3576	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.15719	0.002;0.001;0.014;0.004	B;B;B;B	0.14023	0.003;0.002;0.01;0.002	T	0.59542	-0.7435	10	0.37606	T	0.19	-1.2608	6.2833	0.21019	0.4739:0.1329:0.3932:0.0	.	155;146;172;129	P39905;P39905-4;P39905-3;P39905-2	GDNF_HUMAN;.;.;.	M	155;129;129;172;146	ENSP00000317145:T155M;ENSP00000339703:T129M;ENSP00000425928:T129M;ENSP00000409007:T172M;ENSP00000371248:T146M	ENSP00000317145:T155M	T	-	2	0	GDNF	37851682	1.000000	0.71417	0.055000	0.19348	0.902000	0.53008	2.163000	0.42377	0.059000	0.16252	-0.345000	0.07892	ACG		0.453	GDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207606.1	NM_000514		4	107	0	0	0	1	0	4	107					A	37815925	G	A	37815925	3	1	147	1	0	0	0	0	1	0	0	0	6322	1145	40	1	174	1	GDNF	5	37815925	Missense_Mutation	SNP	G	TCGA-DJ-A3VI-01A-11D-A23M-08		37815925	143099335	8	3085											
POU6F2	11281	broad.mit.edu	37	chr7	39379332	39379332	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcctcccccgtcaacCaaccagcacccgcaaccagc	6	22	1	0			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr7:39379332C>A	ENST00000403058.1	+	6	757	c.603C>A	c.(601-603)acC>acA	p.T201T	POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000518318.2_Silent_p.T201T|POU6F2_ENST00000559001.1_Silent_p.T193T	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	201	Gln-rich.|Pro-rich.				central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CCCCGTCAACCAACCAGCACC	0.682																																						ENST00000518318.2																			0				NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(601-603)acC>acA		POU class 6 homeobox 2							17	21	20					7																	39379332		2202	4294	6496	SO:0001819	synonymous_variant	11281				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:39379332C>A	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"Homeoboxes / POU class"	21694	protein-coding gene	gene with protein product	"Retina-derived POU-domain factor-1"	609062	"POU domain, class 6, transcription factor 2"			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.603C>A	7.37:g.39379332C>A						POU6F2_ENST00000403058.1_Silent_p.T201T|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_Silent_p.T193T	p.T201T			P78424	PO6F2_HUMAN			5	645	+			201			Gln-rich.|Pro-rich.		A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Silent	SNP	ENST00000403058.1	37	c.603C>A	CCDS34620.2																																																																																				0.682	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252		10	13	1	0	0.000673444	1	0.000689869	10	13					A	39379332	C	A	39379332	2	1	147	1	0	0	0	0	0	0	0	1	12285	581	21	4		4	POU6F2	7	39379332	Silent	SNP	C	TCGA-DJ-A3VI-01A-11D-A23M-08		39379332	119759331	9	3086											
ABCA13	154664	broad.mit.edu	37	chr7	48315944	48315944	+	Frame_Shift_Del	DEL	A	A	-													caggaagcagcttggaacttAaatgatactgaccttcaaat							TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr7:48315944delA	ENST00000435803.1	+	17	6705	c.6681delA	c.(6679-6681)ttafs	p.L2227fs		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2227					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						CTTGGAACTTAAATGATACTG	0.348																																						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.(6679-6681)ttfs		ATP-binding cassette, sub-family A (ABC1), member 13							24	22	23					7																	48315944		1825	4084	5909	SO:0001589	frameshift_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48315944delA	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.6681delA	7.37:g.48315944delA	ENSP00000411096:p.Leu2227fs						p.L2227fs	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	6705	+			2227					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Frame_Shift_Del	DEL	ENST00000435803.1	37	c.6681delA	CCDS47584.1																																																																																				0.348	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		2	4						2	4	---	---	---	---	-	48315944	A	-	48315944	7	5	147	1	0	1	0	1	0	0	0	0	31	359	13	0	6576	0	ABCA13	7	48315944	Frame_Shift_Del	DEL	A	TCGA-DJ-A3VI-01A-11D-A23M-08	8936612	48315944	110822719	10	3087											
CCDC136	64753	broad.mit.edu	37	chr7	128452273	128452273	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agcagcattacctataagaaGagttacggcagcaccagtag	10	9	0	2			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr7:128452273G>C	ENST00000297788.4	+	13	2815	c.2448G>C	c.(2446-2448)aaG>aaC	p.K816N	CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	816	Ser-rich.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CCTATAAGAAGAGTTACGGCA	0.517																																						ENST00000297788.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						c.(2446-2448)aaG>aaC		coiled-coil domain containing 136							61	59	60					7																	128452273		2054	4202	6256	SO:0001583	missense	64753					integral to membrane	protein binding	g.chr7:128452273G>C		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.2448G>C	7.37:g.128452273G>C	ENSP00000297788:p.Lys816Asn					CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Intron	p.K816N	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN			13	2815	+			816			Ser-rich.		A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	ENST00000297788.4	37	c.2448G>C	CCDS47704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.344016|5.344016	0.95807|0.95807	.|.	.|.	ENSG00000128596|ENSG00000128596	ENST00000297788;ENST00000397697;ENST00000320524;ENST00000464672|ENST00000494552	T|.	0.35236|.	1.32|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.573238|.	0.17956|.	N|.	0.156345|.	T|T	0.50939|0.50939	0.1645|0.1645	L|L	0.29908|0.29908	0.895|0.895	0.35528|0.35528	D|D	0.802001|0.802001	P;P;P|.	0.51351|.	0.944;0.944;0.835|.	P;P;B|.	0.52957|.	0.714;0.628;0.407|.	T|T	0.55704|0.55704	-0.8099|-0.8099	10|5	0.41790|.	T|.	0.15|.	-23.9401|-23.9401	15.5865|15.5865	0.76489|0.76489	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	816;816;816|.	Q96JN2-4;Q96JN2-2;Q96JN2|.	.;.;CC136_HUMAN|.	N|T	816;816;816;407|693	ENSP00000297788:K816N|.	ENSP00000297788:K816N|.	K|R	+|+	3|2	2|0	CCDC136|CCDC136	128239509|128239509	0.985000|0.985000	0.35326|0.35326	0.984000|0.984000	0.44739|0.44739	0.697000|0.697000	0.40408|0.40408	1.428000|1.428000	0.34892|0.34892	2.813000|2.813000	0.96785|0.96785	0.655000|0.655000	0.94253|0.94253	AAG|AGA		0.517	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		4	48	0	0	0	1	0	4	48					C	128452273	G	C	128452273	3	2	147	1	0	0	0	0	1	0	0	0	2770	933	33	4	2498	4	CCDC136	7	128452273	Missense_Mutation	SNP	G	TCGA-DJ-A3VI-01A-11D-A23M-08	80136329	128452273	30686390	11	3088											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		28	49	0	0	0	1	0	28	49					T	140453136	A	T	140453136	3	4	147	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3VI-01A-11D-A23M-08	12000863	140453136	18685527	12	3089											
EPHX2	2053	broad.mit.edu	37	chr8	27361137	27361137	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acagtggataccactcatggAagaaaactgcaggaagtgct	11	8	1	1			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr8:27361137A>T	ENST00000521400.1	+	3	633	c.203A>T	c.(202-204)gAa>gTa	p.E68V	EPHX2_ENST00000517536.1_Intron|EPHX2_ENST00000521780.1_Missense_Mutation_p.E2V|EPHX2_ENST00000380476.3_Missense_Mutation_p.E15V|EPHX2_ENST00000520666.1_3'UTR|EPHX2_ENST00000518379.1_Missense_Mutation_p.E68V	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	68	Phosphatase.				arachidonic acid metabolic process (GO:0019369)|cellular calcium ion homeostasis (GO:0006874)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|inflammatory response (GO:0006954)|phospholipid dephosphorylation (GO:0046839)|positive regulation of gene expression (GO:0010628)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of cholesterol metabolic process (GO:0090181)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|stilbene catabolic process (GO:0046272)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity (GO:0033885)|epoxide hydrolase activity (GO:0004301)|lipid phosphatase activity (GO:0042577)|magnesium ion binding (GO:0000287)|phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxic substance binding (GO:0015643)			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)		CCACTCATGGAAGAAAACTGC	0.438																																						ENST00000521400.1																			0				cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27						c.(202-204)gAa>gTa		epoxide hydrolase 2, cytoplasmic	Tamoxifen(DB00675)						28	29	29					8																	27361137		2203	4300	6503	SO:0001583	missense	2053				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity	g.chr8:27361137A>T	L05779	CCDS6060.1, CCDS59097.1, CCDS59098.1	8p21	2010-04-23			ENSG00000120915	ENSG00000120915	3.3.2.10		3402	protein-coding gene	gene with protein product		132811					Standard	NM_001979		Approved		uc003xfu.4	P34913	OTTHUMG00000102115	ENST00000521400.1:c.203A>T	8.37:g.27361137A>T	ENSP00000430269:p.Glu68Val					EPHX2_ENST00000520666.1_3'UTR|EPHX2_ENST00000521780.1_Missense_Mutation_p.E2V|EPHX2_ENST00000518379.1_Missense_Mutation_p.E68V|EPHX2_ENST00000517536.1_Intron|EPHX2_ENST00000380476.3_Missense_Mutation_p.E15V	p.E68V	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	3	633	+		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)	68			Phosphatase.		B2Z3B1|B3KTU8|B3KUA0|G3V134|J3KPH7|Q16764|Q9HBJ1|Q9HBJ2	Missense_Mutation	SNP	ENST00000521400.1	37	c.203A>T	CCDS6060.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.7|21.7	4.194380|4.194380	0.78902|0.78902	.|.	.|.	ENSG00000120915|ENSG00000120915	ENST00000521400;ENST00000518328;ENST00000521780;ENST00000380476;ENST00000415449;ENST00000518379|ENST00000521684	T;T;T;T;T|.	0.39056|.	3.25;3.02;1.1;3.02;3.25|.	5.4|5.4	5.4|5.4	0.78164|0.78164	Predicted HAD-superfamily phosphatase, subfamily IA/Epoxide hydrolase, N-terminal (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);|.	0.202716|.	0.51477|.	D|.	0.000100|.	T|.	0.66567|.	0.2802|.	M|M	0.66939|0.66939	2.045|2.045	0.44123|0.44123	D|D	0.9969|0.9969	P;P;B|.	0.50443|.	0.578;0.935;0.288|.	P;P;B|.	0.56751|.	0.648;0.805;0.211|.	T|.	0.66488|.	-0.5911|.	10|.	0.72032|.	D|.	0.01|.	-5.1075|-5.1075	12.106|12.106	0.53813|0.53813	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	68;68;68|.	E5RFU2;E7ETW9;P34913|.	.;.;HYES_HUMAN|.	V|X	68;68;2;15;68;68|68	ENSP00000430269:E68V;ENSP00000430779:E68V;ENSP00000430302:E2V;ENSP00000369843:E15V;ENSP00000427956:E68V|.	ENSP00000369843:E15V|.	E|K	+|+	2|1	0|0	EPHX2|EPHX2	27417054|27417054	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	4.521000|4.521000	0.60532|0.60532	2.167000|2.167000	0.68274|0.68274	0.528000|0.528000	0.53228|0.53228	GAA|AAG		0.438	EPHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219954.4			3	15	0	0	0	1	0	3	15					T	27361137	A	T	27361137	3	4	147	1	0	0	0	0	1	0	0	0	5180	246	9	5	213	5	EPHX2	8	27361137	Missense_Mutation	SNP	A	TCGA-DJ-A3VI-01A-11D-A23M-08		27361137	119002885	13	3090											
EBAG9	9166	broad.mit.edu	37	chr8	110567042	110567042	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggaatgggaatgtggcaacaCaacaaaattctttggaacaa	10	6	1	0			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr8:110567042C>G	ENST00000337573.5	+	4	547	c.247C>G	c.(247-249)Caa>Gaa	p.Q83E	EBAG9_ENST00000529502.1_3'UTR|EBAG9_ENST00000531677.1_Missense_Mutation_p.Q83E|EBAG9_ENST00000395785.2_Missense_Mutation_p.Q83E	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	83					regulation of cell growth (GO:0001558)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	peptidase activator activity involved in apoptotic process (GO:0016505)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			TGTGGCAACACAACAAAATTC	0.388																																						ENST00000337573.5																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10						c.(247-249)Caa>Gaa		estrogen receptor binding site associated, antigen, 9							149	133	139					8																	110567042		2203	4300	6503	SO:0001583	missense	9166				apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity	g.chr8:110567042C>G	AB007619	CCDS6313.1	8q23	2013-03-07			ENSG00000147654	ENSG00000147654			3123	protein-coding gene	gene with protein product		605772					Standard	NM_004215		Approved	EB9, RCAS1	uc003ynf.3	O00559	OTTHUMG00000165346	ENST00000337573.5:c.247C>G	8.37:g.110567042C>G	ENSP00000337675:p.Gln83Glu					EBAG9_ENST00000531677.1_Missense_Mutation_p.Q83E|EBAG9_ENST00000395785.2_Missense_Mutation_p.Q83E|EBAG9_ENST00000529502.1_3'UTR	p.Q83E	NM_004215.3	NP_004206.1	O00559	RCAS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)		4	547	+			83					A8K3N6|Q5Y8C7|Q6IB20|Q9BS76	Missense_Mutation	SNP	ENST00000337573.5	37	c.247C>G	CCDS6313.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.338480	0.24253	.	.	ENSG00000147654	ENST00000395785;ENST00000337573;ENST00000530629;ENST00000531677	.	.	.	5.53	5.53	0.82687	.	0.218768	0.47852	D	0.000215	T	0.56171	0.1967	L	0.38531	1.155	0.38563	D	0.949741	B	0.18863	0.031	B	0.16722	0.016	T	0.53683	-0.8404	9	0.45353	T	0.12	-15.9334	18.8249	0.92114	0.0:1.0:0.0:0.0	.	83	O00559	RCAS1_HUMAN	E	83	.	ENSP00000337675:Q83E	Q	+	1	0	EBAG9	110636218	0.792000	0.28813	0.083000	0.20561	0.499000	0.33736	3.474000	0.53129	2.770000	0.95276	0.655000	0.94253	CAA		0.388	EBAG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383536.1	NM_004215		8	83	0	0	0	1	0	8	83					G	110567042	C	G	110567042	3	3	147	1	0	0	0	0	1	0	0	0	4879	479	17	4	257	4	EBAG9	8	110567042	Missense_Mutation	SNP	C	TCGA-DJ-A3VI-01A-11D-A23M-08	83205905	110567042	35796980	14	3091											
RET	5979	broad.mit.edu	37	chr10	43619150	43619150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcctgctgtgggagatcGtgaccctagggggaaacccc	15	11	0	2	rs587780811		TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr10:43619150G>A	ENST00000355710.3	+	17	3065	c.2833G>A	c.(2833-2835)Gtg>Atg	p.V945M	RET_ENST00000340058.5_Missense_Mutation_p.V945M	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	945	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GTGGGAGATCGTGACCCTAGG	0.607		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"T, Mis, N, F"	ret proto-oncogene	yes	Hirschsprung disease	"E, O"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(2833-2835)Gtg>Atg		ret proto-oncogene	Sunitinib(DB01268)						127	125	126					10																	43619150		2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43619150G>A	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2833G>A	10.37:g.43619150G>A	ENSP00000347942:p.Val945Met					RET_ENST00000340058.5_Missense_Mutation_p.V945M	p.V945M	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			17	3065	+		Ovarian(717;0.0423)	945			Protein kinase.		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.2833G>A	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.839051	0.51057	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	D;D	0.82984	-1.67;-1.67	5.33	4.4	0.53042	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86058	0.5842	L	0.31120	0.905	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.87720	0.2572	10	0.87932	D	0	.	15.0462	0.71830	0.0:0.0:0.8567:0.1433	.	691;945;945	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	M	945	ENSP00000347942:V945M;ENSP00000344798:V945M	ENSP00000344798:V945M	V	+	1	0	RET	42939156	1.000000	0.71417	0.896000	0.35187	0.139000	0.21198	6.815000	0.75242	1.199000	0.43173	0.563000	0.77884	GTG		0.607	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		78	103	0	0	0	1	0	78	103					A	43619150	G	A	43619150	3	1	147	1	0	0	0	0	1	0	0	0	13235	1145	40	1	2899	1	RET	10	43619150	Missense_Mutation	SNP	G	TCGA-DJ-A3VI-01A-11D-A23M-08		43619150	91915597	15	3092											
C10orf2	56652	broad.mit.edu	37	chr10	102748581	102748581	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgacctgctcgcagtcttgTcttcccttggttctcccctg	9	16	3	0			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr10:102748581T>G	ENST00000311916.2	+	1	799	c.614T>G	c.(613-615)gTc>gGc	p.V205G	MRPL43_ENST00000318364.8_5'Flank|MRPL43_ENST00000342071.1_5'Flank|MRPL43_ENST00000370242.4_5'Flank|MRPL43_ENST00000370236.1_5'Flank|MRPL43_ENST00000318325.2_5'Flank|MRPL43_ENST00000370241.3_5'Flank|MRPL43_ENST00000477279.1_5'Flank|MRPL43_ENST00000370234.4_5'Flank|C10orf2_ENST00000473656.1_Intron|MRPL43_ENST00000299179.5_5'Flank|C10orf2_ENST00000370228.1_Missense_Mutation_p.V205G|MRPL43_ENST00000493646.1_5'Flank	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	205					cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CGCAGTCTTGTCTTCCCTTGG	0.527																																						ENST00000370228.1																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24						c.(613-615)gTc>gGc		chromosome 10 open reading frame 2							95	102	100					10																	102748581		2203	4300	6503	SO:0001583	missense	56652				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding	g.chr10:102748581T>G	AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"twinkle", "T7 helicase-related protein with intramitochondrial nucleoid localization"	606075	"infantile onset spinocerebellar ataxia (autosomal recessive)"	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000311916.2:c.614T>G	10.37:g.102748581T>G	ENSP00000309595:p.Val205Gly					C10orf2_ENST00000311916.2_Missense_Mutation_p.V205G|C10orf2_ENST00000473656.1_Intron	p.V205G	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)	1	799	+		Colorectal(252;0.122)|all_hematologic(284;0.152)	205					B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Missense_Mutation	SNP	ENST00000311916.2	37	c.614T>G	CCDS7506.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.000914	0.74818	.	.	ENSG00000107815	ENST00000311916;ENST00000370228	D;D	0.95885	-3.53;-3.84	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.97433	0.9160	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.923	D	0.97514	1.0068	10	0.48119	T	0.1	-12.4978	14.8057	0.69952	0.0:0.0:0.0:1.0	.	205;205	Q96RR1-2;Q96RR1	.;PEO1_HUMAN	G	205	ENSP00000309595:V205G;ENSP00000359248:V205G	ENSP00000309595:V205G	V	+	2	0	C10orf2	102738571	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.903000	0.87398	2.180000	0.69256	0.379000	0.24179	GTC		0.527	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049886.1	NM_021830		33	36	0	0	0	1	0	33	36					G	102748581	T	G	102748581	3	3	147	1	0	0	0	0	1	0	0	0	1597	1667	58	5	616	5	C10orf2	10	102748581	Missense_Mutation	SNP	T	TCGA-DJ-A3VI-01A-11D-A23M-08	59129431	102748581	32786166	16	3093											
MMP7	4316	broad.mit.edu	37	chr11	102395783	102395783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggcccatcaaatgggtagGagtccccatgagctgaaaga	12	10	1	3			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr11:102395783G>A	ENST00000260227.4	-	4	549	c.497C>T	c.(496-498)tCc>tTc	p.S166F		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	166					antibacterial peptide secretion (GO:0002779)|collagen catabolic process (GO:0030574)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	Marimastat(DB00786)	AAATGGGTAGGAGTCCCCATG	0.458																																						ENST00000260227.4																			0				large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(496-498)tCc>tTc		matrix metallopeptidase 7 (matrilysin, uterine)							83	72	76					11																	102395783		2203	4299	6502	SO:0001583	missense	4316				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:102395783G>A	Z11887	CCDS8317.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000137673	ENSG00000137673	3.4.24.23		7174	protein-coding gene	gene with protein product		178990	"matrix metalloproteinase 7 (matrilysin, uterine)"	MPSL1		8978768	Standard	NM_002423		Approved	PUMP-1	uc001phb.3	P09237	OTTHUMG00000048193	ENST00000260227.4:c.497C>T	11.37:g.102395783G>A	ENSP00000260227:p.Ser166Phe						p.S166F	NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	4	549	-	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	166					Q9BTK9	Missense_Mutation	SNP	ENST00000260227.4	37	c.497C>T	CCDS8317.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.615691	0.00120	.	.	ENSG00000137673	ENST00000260227	T	0.50813	0.73	5.12	-10.2	0.00374	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	4.014020	0.00357	N	0.000022	T	0.17109	0.0411	N	0.05608	-0.01	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.28106	-1.0054	10	0.02654	T	1	-1.4641	2.5744	0.04803	0.2213:0.1243:0.1612:0.4932	.	166;166	Q53GF1;P09237	.;MMP7_HUMAN	F	166	ENSP00000260227:S166F	ENSP00000260227:S166F	S	-	2	0	MMP7	101900993	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-5.114000	0.00150	-3.085000	0.00249	-1.014000	0.02459	TCC		0.458	MMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109633.2			4	43	0	0	0	1	0	4	43					A	102395783	G	A	102395783	3	1	147	1	0	0	0	0	1	0	0	0	9667	1174	41	2	318	2	MMP7	11	102395783	Missense_Mutation	SNP	G	TCGA-DJ-A3VI-01A-11D-A23M-08		102395783	32610733	17	3094											
PIH1D2	120379	broad.mit.edu	37	chr11	111941848	111941848	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tttgaatgcttccttttattCtaaatttggtaatatggtaa	6	4	1	1			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr11:111941848C>G	ENST00000280350.4	-	4	683	c.461G>C	c.(460-462)aGa>aCa	p.R154T	PIH1D2_ENST00000530641.1_Missense_Mutation_p.R154T|C11orf57_ENST00000420986.2_5'Flank|PIH1D2_ENST00000532211.1_Missense_Mutation_p.R154T|PIH1D2_ENST00000431456.1_Missense_Mutation_p.R154T|PIH1D2_ENST00000521853.2_5'Flank|PIH1D2_ENST00000528775.1_Missense_Mutation_p.R154T	NM_138789.3	NP_620144.1	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	154										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		TCCTTTTATTCTAAATTTGGT	0.338																																						ENST00000530641.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(460-462)aGa>aCa		PIH1 domain containing 2							135	136	136					11																	111941848		2201	4297	6498	SO:0001583	missense	120379							g.chr11:111941848C>G	BC019238	CCDS8355.1, CCDS44730.1	11q23.1	2007-01-31			ENSG00000150773	ENSG00000150773			25210	protein-coding gene	gene with protein product						12477932	Standard	NM_138789		Approved		uc001pmp.4	Q8WWB5	OTTHUMG00000166925	ENST00000280350.4:c.461G>C	11.37:g.111941848C>G	ENSP00000280350:p.Arg154Thr					PIH1D2_ENST00000280350.4_Missense_Mutation_p.R154T|PIH1D2_ENST00000532211.1_Missense_Mutation_p.R154T|PIH1D2_ENST00000431456.1_Missense_Mutation_p.R154T|PIH1D2_ENST00000528775.1_Missense_Mutation_p.R154T	p.R154T			Q8WWB5	PIHD2_HUMAN		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)	4	786	-		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	154					B4DU48|E9PD82	Missense_Mutation	SNP	ENST00000280350.4	37	c.461G>C	CCDS8355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.74|11.74	1.730027|1.730027	0.30684|0.30684	.|.	.|.	ENSG00000150773|ENSG00000150773	ENST00000528775;ENST00000431456;ENST00000532211;ENST00000280350;ENST00000530641;ENST00000525744|ENST00000525072	T;T;T;T;T;T|.	0.18338|.	2.22;2.22;2.22;2.22;2.22;2.22|.	5.9|5.9	-4.73|-4.73	0.03259|0.03259	.|.	0.579708|.	0.20168|.	N|.	0.097796|.	T|.	0.50837|.	0.1639|.	M|M	0.74881|0.74881	2.28|2.28	0.09310|0.09310	N|N	1|1	B;B;B|.	0.11235|.	0.001;0.004;0.003|.	B;B;B|.	0.12156|.	0.004;0.007;0.004|.	T|.	0.55958|.	-0.8058|.	10|.	0.24483|.	T|.	0.36|.	-2.7252|-2.7252	9.043|9.043	0.36329|0.36329	0.0:0.1706:0.2067:0.6227|0.0:0.1706:0.2067:0.6227	.|.	154;154;154|.	B4DU48;E9PD82;Q8WWB5|.	.;.;PIHD2_HUMAN|.	T|Y	154;154;154;154;154;119|109	ENSP00000434275:R154T;ENSP00000388209:R154T;ENSP00000431841:R154T;ENSP00000280350:R154T;ENSP00000431147:R154T;ENSP00000433297:R119T|.	ENSP00000280350:R154T|.	R|X	-|-	2|3	0|2	PIH1D2|PIH1D2	111447058|111447058	0.101000|0.101000	0.21875|0.21875	0.729000|0.729000	0.30791|0.30791	0.978000|0.978000	0.69477|0.69477	-0.653000|-0.653000	0.05360|0.05360	-0.488000|-0.488000	0.06726|0.06726	-0.218000|-0.218000	0.12543|0.12543	AGA|TAG		0.338	PIH1D2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391916.1	NM_138789		8	80	0	0	0	1	0	8	80					G	111941848	C	G	111941848	3	3	147	1	0	0	0	0	1	0	0	0	11907	913	32	4	556	4	PIH1D2	11	111941848	Missense_Mutation	SNP	C	TCGA-DJ-A3VI-01A-11D-A23M-08	9546065	111941848	23064668	18	3095											
HTR3B	9177	broad.mit.edu	37	chr11	113802568	113802568	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctaagtgccatctgggcccCcgatatcatcatcaatgagt	8	12	5	1			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr11:113802568C>T	ENST00000260191.2	+	4	604	c.347C>T	c.(346-348)cCc>cTc	p.P116L	HTR3B_ENST00000537778.1_Missense_Mutation_p.P105L	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	116					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	ATCTGGGCCCCCGATATCATC	0.448																																						ENST00000260191.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20						c.(346-348)cCc>cTc		5-hydroxytryptamine (serotonin) receptor 3B, ionotropic							133	118	123					11																	113802568		2201	4296	6497	SO:0001583	missense	9177				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113802568C>T	AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5298	protein-coding gene	gene with protein product		604654	"5-hydroxytryptamine (serotonin) receptor 3B"			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.347C>T	11.37:g.113802568C>T	ENSP00000260191:p.Pro116Leu					HTR3B_ENST00000537778.1_Missense_Mutation_p.P105L	p.P116L	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	4	604	+		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	116					B0YJ23|Q0VJC3	Missense_Mutation	SNP	ENST00000260191.2	37	c.347C>T	CCDS8364.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.085487|4.085487	0.76642|0.76642	.|.	.|.	ENSG00000149305|ENSG00000149305	ENST00000260191;ENST00000537778|ENST00000543092	D;D|D	0.98567|0.98550	-5.0;-5.0|-4.99	5.41|5.41	5.41|5.41	0.78517|0.78517	Neurotransmitter-gated ion-channel ligand-binding (3);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.99372|0.99372	0.9779|0.9779	H|H	0.96633|0.96633	3.855|3.855	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.98614|0.98614	1.0664|1.0664	10|8	0.87932|0.87932	D|D	0|0	-14.5234|-14.5234	18.3237|18.3237	0.90246|0.90246	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	105;116|.	O95264-2;O95264|.	.;5HT3B_HUMAN|.	L|S	116;105|45	ENSP00000260191:P116L;ENSP00000443118:P105L|ENSP00000440894:P45S	ENSP00000260191:P116L|ENSP00000440894:P45S	P|P	+|+	2|1	0|0	HTR3B|HTR3B	113307778|113307778	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.560000|0.560000	0.35617|0.35617	7.455000|7.455000	0.80726|0.80726	2.697000|2.697000	0.92050|0.92050	0.563000|0.563000	0.77884|0.77884	CCC|CCG		0.448	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398842.1	NM_006028		27	66	0	0	0	1	0	27	66					T	113802568	C	T	113802568	3	4	147	1	0	0	0	0	1	0	0	0	7445	623	22	2	361	2	HTR3B	11	113802568	Missense_Mutation	SNP	C	TCGA-DJ-A3VI-01A-11D-A23M-08	1860720	113802568	21203948	19	3096											
NECAP1	25977	broad.mit.edu	37	chr12	8244414	8244414	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acagatcggggagatgccttCgactttaatgtctccttgca	10	10	1	2			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr12:8244414C>T	ENST00000339754.5	+	4	429	c.351C>T	c.(349-351)ttC>ttT	p.F117F		NM_015509.3	NP_056324.2	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	117					endocytosis (GO:0006897)|protein transport (GO:0015031)	clathrin vesicle coat (GO:0030125)|coated pit (GO:0005905)|plasma membrane (GO:0005886)				cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				Kidney(36;0.0915)		GAGATGCCTTCGACTTTAATG	0.483																																						ENST00000339754.5																			0				cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(349-351)ttC>ttT		NECAP endocytosis associated 1							175	126	143					12																	8244414		2203	4300	6503	SO:0001819	synonymous_variant	25977				endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane		g.chr12:8244414C>T	AK074923	CCDS8589.1	12p13.31	2012-05-02			ENSG00000089818	ENSG00000089818			24539	protein-coding gene	gene with protein product		611623				14555962, 15494011	Standard	NM_015509		Approved	DKFZP566B183	uc001qtx.2	Q8NC96	OTTHUMG00000168568	ENST00000339754.5:c.351C>T	12.37:g.8244414C>T							p.F117F	NM_015509.3	NP_056324.2	Q8NC96	NECP1_HUMAN		Kidney(36;0.0915)	4	429	+			117					Q2NL73|Q5XG95|Q6NWY6|Q8N153|Q8NCB0|Q9BU52|Q9Y407	Silent	SNP	ENST00000339754.5	37	c.351C>T	CCDS8589.1																																																																																				0.483	NECAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400244.1	NM_015509		9	17	0	0	0	1	0	9	17					T	8244414	C	T	8244414	2	4	147	1	0	0	0	0	0	0	0	1	10307	883	31	1		1	NECAP1	12	8244414	Silent	SNP	C	TCGA-DJ-A3VI-01A-11D-A23M-08		8244414	125607481	20	3097											
NAV3	89795	broad.mit.edu	37	chr12	78594266	78594266	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttatcaggtccccgactattCcttccttgccccatggatgt	7	14	1	0			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr12:78594266C>T	ENST00000397909.2	+	38	6902	c.6729C>T	c.(6727-6729)ttC>ttT	p.F2243F	NAV3_ENST00000266692.7_Silent_p.F2044F|NAV3_ENST00000228327.6_Silent_p.F2221F|NAV3_ENST00000536525.2_Silent_p.F2221F|NAV3_ENST00000541270.1_Silent_p.F73F			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2243						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCCGACTATTCCTTCCTTGCC	0.343										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(6727-6729)ttC>ttT		neuron navigator 3							113	99	103					12																	78594266		1816	4069	5885	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78594266C>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6729C>T	12.37:g.78594266C>T		HNSCC(70;0.22)				NAV3_ENST00000266692.7_Silent_p.F2044F|NAV3_ENST00000536525.2_Silent_p.F2221F|NAV3_ENST00000541270.1_Silent_p.F73F|NAV3_ENST00000228327.6_Silent_p.F2221F	p.F2243F			Q8IVL0	NAV3_HUMAN			38	6902	+			2243					Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.6729C>T		.	.	.	.	.	.	.	.	.	.	C	8.770	0.925733	0.18056	.	.	ENSG00000067798	ENST00000552895;ENST00000551162	.	.	.	5.16	3.33	0.38152	.	.	.	.	.	T	0.57621	0.2066	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51764	-0.8664	4	.	.	.	-16.0776	7.9197	0.29839	0.0:0.6867:0.0:0.3133	.	.	.	.	S	1116;111	.	.	P	+	1	0	NAV3	77118397	0.999000	0.42202	1.000000	0.80357	0.969000	0.65631	0.723000	0.25939	0.684000	0.31448	0.563000	0.77884	CCT		0.343	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		29	30	0	0	0	1	0	29	30					T	78594266	C	T	78594266	2	4	147	1	0	0	0	0	0	0	0	1	10185	854	30	2		2	NAV3	12	78594266	Silent	SNP	C	TCGA-DJ-A3VI-01A-11D-A23M-08	70349852	78594266	55257629	21	3098											
TMEM132D	121256	broad.mit.edu	37	chr12	129569241	129569241	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaagacgtagtcacatctgtCagaaacctgtgaagaggtga	11	7	3	5			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr12:129569241C>G	ENST00000422113.2	-	6	1776	c.1450G>C	c.(1450-1452)Gac>Cac	p.D484H	TMEM132D_ENST00000389441.4_Missense_Mutation_p.D22H	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	484					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCACATCTGTCAGAAACCTGT	0.527																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(1450-1452)Gac>Cac		transmembrane protein 132D							80	68	72					12																	129569241		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129569241C>G	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1450G>C	12.37:g.129569241C>G	ENSP00000408581:p.Asp484His					TMEM132D_ENST00000389441.4_Missense_Mutation_p.D22H	p.D484H	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	6	1776	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	484					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.1450G>C	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	c	16.09	3.023799	0.54683	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.23552	2.52;1.9	4.78	3.89	0.44902	.	0.000000	0.64402	D	0.000001	T	0.45558	0.1348	M	0.62209	1.925	0.44619	D	0.997596	D;D	0.89917	0.997;1.0	D;D	0.74348	0.912;0.983	T	0.33240	-0.9876	9	.	.	.	-52.918	12.8747	0.57984	0.0:0.9207:0.0:0.0793	.	484;22	Q14C87;Q14C87-2	T132D_HUMAN;.	H	22;484	ENSP00000374092:D22H;ENSP00000408581:D484H	.	D	-	1	0	TMEM132D	128135194	1.000000	0.71417	0.626000	0.29213	0.655000	0.38815	4.527000	0.60573	0.995000	0.38917	0.556000	0.70494	GAC		0.527	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		4	27	0	0	0	1	0	4	27					G	129569241	C	G	129569241	3	3	147	1	0	0	0	0	1	0	0	0	16044	826	29	4	1865	4	TMEM132D	12	129569241	Missense_Mutation	SNP	C	TCGA-DJ-A3VI-01A-11D-A23M-08	50974975	129569241	4282654	22	3099											
FLT1	2321	broad.mit.edu	37	chr13	29005322	29005322	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaatgatggtccactcctTacacgacaagtataaagtcc	7	10	0	2			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr13:29005322T>C	ENST00000282397.4	-	7	1190	c.939A>G	c.(937-939)gtA>gtG	p.V313V	FLT1_ENST00000541932.1_Silent_p.V313V|FLT1_ENST00000539099.1_Silent_p.V313V	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	313	Ig-like C2-type 3.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTCCACTCCTTACACGACAAG	0.378																																						ENST00000282397.4																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(937-939)gtA>gtG		fms-related tyrosine kinase 1	Sunitinib(DB01268)						231	191	205					13																	29005322		2203	4300	6503	SO:0001819	synonymous_variant	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:29005322T>C	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.939A>G	13.37:g.29005322T>C						FLT1_ENST00000541932.1_Silent_p.V313V|FLT1_ENST00000539099.1_Silent_p.V313V	p.V313V	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	7	1190	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	313			Ig-like C2-type 3.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Silent	SNP	ENST00000282397.4	37	c.939A>G	CCDS9330.1																																																																																				0.378	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			4	95	0	0	0	1	0	4	95					C	29005322	T	C	29005322	2	2	147	1	0	0	0	0	0	0	0	1	5941	1741	61	3		3	FLT1	13	29005322	Silent	SNP	T	TCGA-DJ-A3VI-01A-11D-A23M-08		29005322	86164556	23	3100											
NBEA	26960	broad.mit.edu	37	chr13	35864536	35864536	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttgttgtaggccttgtttgTatgaagtccagcacatctgt	10	7	1	1			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr13:35864536T>A	ENST00000400445.3	+	35	6321	c.5787T>A	c.(5785-5787)tgT>tgA	p.C1929*	NBEA_ENST00000310336.4_Nonsense_Mutation_p.C1929*|NBEA_ENST00000540320.1_Nonsense_Mutation_p.C1929*|NBEA_ENST00000379939.2_Nonsense_Mutation_p.C1926*	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1929					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GCCTTGTTTGTATGAAGTCCA	0.303																																						ENST00000540320.1																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(5785-5787)tgT>tgA		neurobeachin							279	262	267					13																	35864536		1844	4093	5937	SO:0001587	stop_gained	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35864536T>A	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.5787T>A	13.37:g.35864536T>A	ENSP00000383295:p.Cys1929*					NBEA_ENST00000310336.4_Nonsense_Mutation_p.C1929*|NBEA_ENST00000400445.3_Nonsense_Mutation_p.C1929*|NBEA_ENST00000379939.2_Nonsense_Mutation_p.C1926*	p.C1929*			Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	35	6321	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	1929					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Nonsense_Mutation	SNP	ENST00000400445.3	37	c.5787T>A	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	T	49	16.011216	0.99852	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	.	.	.	4.76	-0.147	0.13428	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1549	0.42816	0.0:0.2967:0.0:0.7033	.	.	.	.	X	1929;1929;1926;1929;556	.	ENSP00000308534:C1929X	C	+	3	2	NBEA	34762536	0.909000	0.30893	0.983000	0.44433	0.983000	0.72400	0.027000	0.13621	-0.051000	0.13334	0.377000	0.23210	TGT		0.303	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		88	117	0	0	0	1	0	88	117					A	35864536	T	A	35864536	4	1	147	1	0	0	0	0	0	1	0	0	10187	1644	57	5	5925	5	NBEA	13	35864536	Nonsense_Mutation	SNP	T	TCGA-DJ-A3VI-01A-11D-A23M-08	6859214	35864536	79305342	24	3101											
ZIC2	7546	broad.mit.edu	37	chr13	100635025	100635025	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcccaccaccaccaccaccAccaccaccaccccggtgcct	5	25	0	0	rs370011753		TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr13:100635025A>G	ENST00000376335.3	+	1	1000	c.707A>G	c.(706-708)cAc>cGc	p.H236R		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	236	Necessary for interaction with MDFIC and transcriptional activation or repression. {ECO:0000250}.|Poly-His.				brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					caccaccaccaccaccaccac	0.597																																					Pancreas(97;119 1522 31925 44771 48764)	ENST00000376335.3																			0				large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(706-708)cAc>cGc		Zic family member 2		A	ARG/HIS	0,4406		0,0,2203	33	40	38		707	4.6	1.0	13		38	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZIC2	NM_007129.3	29	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging	236/533	100635025	1,13005	2203	4300	6503	SO:0001583	missense	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100635025A>G	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"Zinc fingers, C2H2-type"	12873	protein-coding gene	gene with protein product	"Zinc finger protein of the cerebellum 2"	603073	"Zic family member 2 (odd-paired Drosophila homolog)", "Zic family member 2 (odd-paired homolog, Drosophila)"			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.707A>G	13.37:g.100635025A>G	ENSP00000365514:p.His236Arg						p.H236R	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN			1	1000	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		236			Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).|Poly-His.		Q5VYA9|Q9H309	Missense_Mutation	SNP	ENST00000376335.3	37	c.707A>G	CCDS9495.1	.	.	.	.	.	.	.	.	.	.	A	15.70	2.911433	0.52439	0.0	1.16E-4	ENSG00000043355	ENST00000376335;ENST00000425702	T	0.13778	2.56	4.59	4.59	0.56863	.	0.000000	0.64402	D	0.000002	T	0.17323	0.0416	N	0.08118	0	0.43959	D	0.996636	D	0.57899	0.981	D	0.67231	0.95	T	0.22173	-1.0224	10	0.40728	T	0.16	.	14.0708	0.64858	1.0:0.0:0.0:0.0	.	236	O95409	ZIC2_HUMAN	R	236	ENSP00000365514:H236R	ENSP00000365514:H236R	H	+	2	0	ZIC2	99433026	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.252000	0.65445	2.064000	0.61679	0.459000	0.35465	CAC		0.597	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		9	75	0	0	0	1	0	9	75					G	100635025	A	G	100635025	3	3	147	1	0	0	0	0	1	0	0	0	17676	159	6	3	709	3	ZIC2	13	100635025	Missense_Mutation	SNP	A	TCGA-DJ-A3VI-01A-11D-A23M-08	64770489	100635025	14534853	25	3102											
SOS2	6655	broad.mit.edu	37	chr14	50626379	50626379	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagtactacgataatgaagaGaaataagggctgccatccag	11	7	0	2			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr14:50626379G>A	ENST00000216373.5	-	10	1896	c.1622C>T	c.(1621-1623)tCt>tTt	p.S541F	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Missense_Mutation_p.S508F	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	541	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S541Y(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					ATAATGAAGAGAAATAAGGGC	0.358																																						ENST00000216373.5																			2	Substitution - Missense(2)	p.S541Y(2)	large_intestine(2)	cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39						c.(1621-1623)tCt>tTt		son of sevenless homolog 2 (Drosophila)							102	107	105					14																	50626379		2203	4300	6503	SO:0001583	missense	6655				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr14:50626379G>A	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11188	protein-coding gene	gene with protein product		601247	"son of sevenless (Drosophilia) homolog 2"			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.1622C>T	14.37:g.50626379G>A	ENSP00000216373:p.Ser541Phe					SOS2_ENST00000543680.1_Missense_Mutation_p.S508F|SOS2_ENST00000555794.1_5'UTR	p.S541F	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN			10	1896	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		541			PH.		B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	c.1622C>T	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.455937	0.84209	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	D;D	0.88046	-2.33;-2.33	5.48	5.48	0.80851	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.094118	0.85682	D	0.000000	D	0.90109	0.6910	L	0.51422	1.61	0.80722	D	1	P;D;D	0.63046	0.773;0.974;0.992	P;P;P	0.55161	0.611;0.77;0.675	D	0.90406	0.4406	10	0.62326	D	0.03	.	19.6951	0.96022	0.0:0.0:1.0:0.0	.	508;571;541	B7ZKT6;Q59G32;Q07890	.;.;SOS2_HUMAN	F	541;508	ENSP00000216373:S541F;ENSP00000445328:S508F	ENSP00000216373:S541F	S	-	2	0	SOS2	49696129	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.743000	0.98849	2.728000	0.93425	0.585000	0.79938	TCT		0.358	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			37	57	0	0	0	1	0	37	57					A	50626379	G	A	50626379	3	1	147	1	0	0	0	0	1	0	0	0	14937	942	33	2	2432	2	SOS2	14	50626379	Missense_Mutation	SNP	G	TCGA-DJ-A3VI-01A-11D-A23M-08		50626379	56723161	26	3103											
AHNAK2	113146	broad.mit.edu	37	chr14	105419219	105419219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caccttcggcgcagacacatCcaccgagtcctccatggact	8	17	0	1			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr14:105419219C>T	ENST00000333244.5	-	7	2688	c.2569G>A	c.(2569-2571)Gat>Aat	p.D857N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	857						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)			GCAGACACATCCACCGAGTCC	0.597																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(2569-2571)Gat>Aat		AHNAK nucleoprotein 2							205	228	220					14																	105419219		1985	4147	6132	SO:0001583	missense	113146					nucleus		g.chr14:105419219C>T	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.2569G>A	14.37:g.105419219C>T	ENSP00000353114:p.Asp857Asn					AHNAK2_ENST00000557457.1_Intron	p.D857N	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	2688	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	857					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.2569G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	18.86	3.713624	0.68730	.	.	ENSG00000185567	ENST00000333244	T	0.03330	3.97	4.02	3.09	0.35607	.	.	.	.	.	T	0.09555	0.0235	L	0.56199	1.76	0.19300	N	0.999971	D	0.54047	0.964	P	0.55345	0.774	T	0.16012	-1.0417	9	0.37606	T	0.19	-16.4555	11.1296	0.48339	0.0:0.8105:0.1895:0.0	.	857	Q8IVF2	AHNK2_HUMAN	N	857	ENSP00000353114:D857N	ENSP00000353114:D857N	D	-	1	0	AHNAK2	104490264	0.096000	0.21769	0.023000	0.16930	0.019000	0.09904	1.379000	0.34340	0.620000	0.30215	0.491000	0.48974	GAT		0.597	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		8	415	0	0	0	1	0	8	415					T	105419219	C	T	105419219	3	4	147	1	0	0	0	0	1	0	0	0	415	855	30	2	14822	2	AHNAK2	14	105419219	Missense_Mutation	SNP	C	TCGA-DJ-A3VI-01A-11D-A23M-08	54792840	105419219	1930321	27	3104											
TAOK2	9344	broad.mit.edu	37	chr16	29989600	29989600	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagacatcatcaaggaggtgCggttcttacagaagctccgg	12	9	3	2			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr16:29989600C>T	ENST00000308893.4	+	4	1275	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W	TAOK2_ENST00000416441.2_5'Flank|TAOK2_ENST00000543033.1_Missense_Mutation_p.R78W|TAOK2_ENST00000279394.3_Missense_Mutation_p.R78W	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	78	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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						CAAGGAGGTGCGGTTCTTACA	0.577																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(232-234)Cgg>Tgg		TAO kinase 2							229	204	213					16																	29989600		2197	4300	6497	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.chr16:29989600C>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.232C>T	16.37:g.29989600C>T	ENSP00000310094:p.Arg78Trp					TAOK2_ENST00000543033.1_Missense_Mutation_p.R78W|TAOK2_ENST00000279394.3_Missense_Mutation_p.R78W	p.R78W	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			4	1275	+			78			Protein kinase.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.232C>T	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.206422	0.79127	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.67345	-0.26;-0.26;-0.26	5.79	5.79	0.91817	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.071573	0.64402	D	0.000018	T	0.80576	0.4649	M	0.76938	2.355	0.80722	D	1	D;D;D;D	0.89917	0.999;0.997;0.998;1.0	D;P;D;D	0.76071	0.987;0.904;0.942;0.987	T	0.80795	-0.1223	9	.	.	.	.	12.2952	0.54842	0.2706:0.7294:0.0:0.0	.	262;78;78;78	Q86V37;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;TAOK2_HUMAN	W	78	ENSP00000310094:R78W;ENSP00000440336:R78W;ENSP00000279394:R78W	.	R	+	1	2	TAOK2	29897101	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.606000	0.74159	2.736000	0.93811	0.561000	0.74099	CGG		0.577	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		5	302	0	0	0	1	0	5	302					T	29989600	C	T	29989600	3	4	147	1	0	0	0	0	1	0	0	0	15545	759	27	1	242	1	TAOK2	16	29989600	Missense_Mutation	SNP	C	TCGA-DJ-A3VI-01A-11D-A23M-08		29989600	60365153	28	3105											
YPEL3	83719	broad.mit.edu	37	chr16	30106212	30106212	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggctggcccgcagcccacGttcaccctgtggggacatgg	14	15	1	0			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr16:30106212G>A	ENST00000398838.4	-	4	381	c.168C>T	c.(166-168)aaC>aaT	p.N56N	YPEL3_ENST00000562641.1_Silent_p.N94N|YPEL3_ENST00000566595.1_Silent_p.N56N|YPEL3_ENST00000563788.1_Silent_p.N56N|YPEL3_ENST00000566134.1_Intron|RP11-455F5.3_ENST00000515455.2_RNA|YPEL3_ENST00000398841.1_Silent_p.N94N|YPEL3_ENST00000565479.1_5'UTR	NM_001145524.1	NP_001138996.1	P61236	YPEL3_HUMAN	yippee-like 3 (Drosophila)	56						nucleus (GO:0005634)		p.N94N(1)		endometrium(1)|lung(2)	3						CGCAGCCCACGTTCACCCTGT	0.622																																						ENST00000562641.1																			1	Substitution - coding silent(1)	p.N94N(1)	endometrium(1)	endometrium(1)|lung(2)	3						c.(280-282)aaC>aaT		yippee-like 3 (Drosophila)							35	40	38					16																	30106212		2139	4270	6409	SO:0001819	synonymous_variant	83719					nucleolus		g.chr16:30106212G>A	AF305622	CCDS42147.1, CCDS45459.1	16p11	2008-02-05							18327	protein-coding gene	gene with protein product		609724					Standard	NM_031477		Approved	MGC10500	uc002dwm.3	P61236		ENST00000398838.4:c.168C>T	16.37:g.30106212G>A						YPEL3_ENST00000566595.1_Silent_p.N56N|YPEL3_ENST00000565479.1_5'UTR|YPEL3_ENST00000398841.1_Silent_p.N94N|YPEL3_ENST00000566134.1_Intron|YPEL3_ENST00000563788.1_Silent_p.N56N|YPEL3_ENST00000398838.4_Silent_p.N56N	p.N94N			P61236	YPEL3_HUMAN			3	811	-			56					Q65Z99|Q86VK6|Q9BSJ4|Q9CQB6	Silent	SNP	ENST00000398838.4	37	c.282C>T	CCDS45459.1																																																																																				0.622	YPEL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434043.1	NM_031477		35	46	0	0	0	1	0	35	46					A	30106212	G	A	30106212	2	1	147	1	0	0	0	0	0	0	0	1	17488	1136	40	1		1	YPEL3	16	30106212	Silent	SNP	G	TCGA-DJ-A3VI-01A-11D-A23M-08	116612	30106212	60248541	29	3106											
CATSPER4	378807	broad.mit.edu	37	chr1	26527433	26527433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccttgcgggaggccccctgtCgaacctctcagaaaacacgt	10	15	1	1			TCGA-DJ-A3VJ-01A-11D-A23M-08	TCGA-DJ-A3VJ-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9159100-2b88-4427-a998-18128c25c730	4438cf9f-5bf6-4dc8-9c2e-5b3e30849310	g.chr1:26527433C>T	ENST00000456354.2	+	8	1167	c.1100C>T	c.(1099-1101)tCg>tTg	p.S367L		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	367					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCCCCTGTCGAACCTCTCA	0.547																																						ENST00000456354.2																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27						c.(1099-1101)tCg>tTg		cation channel, sperm associated 4							77	76	76					1																	26527433		2203	4300	6503	SO:0001583	missense	378807				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr1:26527433C>T	BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"Voltage-gated ion channels / Cation channels, sperm associated"	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.1100C>T	1.37:g.26527433C>T	ENSP00000390423:p.Ser367Leu						p.S367L	NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)	8	1167	+		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)	367					A1A4W6|Q5VY71	Missense_Mutation	SNP	ENST00000456354.2	37	c.1100C>T	CCDS30645.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.012542	0.35511	.	.	ENSG00000188782	ENST00000338855;ENST00000456354	D;D	0.97665	-4.48;-4.48	4.65	-0.0253	0.13935	.	2.425200	0.01701	N	0.027199	D	0.92928	0.7750	L	0.29908	0.895	0.09310	N	1	B;B	0.18013	0.014;0.025	B;B	0.06405	0.001;0.002	D	0.84023	0.0355	10	0.42905	T	0.14	2.1313	2.4545	0.04526	0.1802:0.3758:0.3333:0.1107	.	367;351	Q7RTX7;Q7RTX7-2	CTSR4_HUMAN;.	L	367	ENSP00000341006:S367L;ENSP00000390423:S367L	ENSP00000341006:S367L	S	+	2	0	CATSPER4	26400020	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-0.291000	0.08343	0.353000	0.24079	0.313000	0.20887	TCG		0.547	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	NM_198137		29	83	0	0	0	1	0	29	83					T	26527433	C	T	26527433	3	4	148	1	0	0	0	0	1	0	0	0	2690	893	31	1	1130	1	CATSPER4	1	26527433	Missense_Mutation	SNP	C	TCGA-DJ-A3VJ-01A-11D-A23M-08		26527433	222723188	1	3107											
BIRC6	57448	broad.mit.edu	37	chr2	32694627	32694627	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggtggggtcaatttctttctAatgtccttcaggaattgtac	10	7	4	0			TCGA-DJ-A3VJ-01A-11D-A23M-08	TCGA-DJ-A3VJ-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9159100-2b88-4427-a998-18128c25c730	4438cf9f-5bf6-4dc8-9c2e-5b3e30849310	g.chr2:32694627A>T	ENST00000421745.2	+	30	6426	c.6292A>T	c.(6292-6294)Aat>Tat	p.N2098Y		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2098					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)					ATTTCTTTCTAATGTCCTTCA	0.413																																					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.(6292-6294)Aat>Tat		baculoviral IAP repeat containing 6							307	296	300					2																	32694627		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32694627A>T	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.6292A>T	2.37:g.32694627A>T	ENSP00000393596:p.Asn2098Tyr						p.N2098Y	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			30	6426	+	Acute lymphoblastic leukemia(172;0.155)		2098					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.6292A>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	25.4	4.638363	0.87760	.	.	ENSG00000115760	ENST00000421745	T	0.76186	-1.0	5.26	5.26	0.73747	.	0.058277	0.64402	N	0.000004	D	0.83220	0.5207	L	0.55481	1.735	0.58432	D	0.999998	D	0.71674	0.998	D	0.80764	0.994	D	0.85149	0.0985	10	0.87932	D	0	.	15.5155	0.75822	1.0:0.0:0.0:0.0	.	2098	Q9NR09	BIRC6_HUMAN	Y	2098	ENSP00000393596:N2098Y	ENSP00000393596:N2098Y	N	+	1	0	BIRC6	32548131	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.287000	0.95975	2.132000	0.65825	0.477000	0.44152	AAT		0.413	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		78	239	0	0	0	1	0	78	239					T	32694627	A	T	32694627	3	4	148	1	0	0	0	0	1	0	0	0	1438	362	13	5	6410	5	BIRC6	2	32694627	Missense_Mutation	SNP	A	TCGA-DJ-A3VJ-01A-11D-A23M-08		32694627	210504746	2	3108											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3VJ-01A-11D-A23M-08	TCGA-DJ-A3VJ-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9159100-2b88-4427-a998-18128c25c730	4438cf9f-5bf6-4dc8-9c2e-5b3e30849310	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		44	89	0	0	0	1	0	44	89					T	140453136	A	T	140453136	3	4	148	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3VJ-01A-11D-A23M-08		140453136	18685527	3	3109											
APBA1	320	broad.mit.edu	37	chr9	72082820	72082820	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgagagcagctgagtggaGccaaggtaattggcggcaaa	15	7	1	2			TCGA-DJ-A3VJ-01A-11D-A23M-08	TCGA-DJ-A3VJ-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9159100-2b88-4427-a998-18128c25c730	4438cf9f-5bf6-4dc8-9c2e-5b3e30849310	g.chr9:72082820G>A	ENST00000265381.4	-	5	1623	c.1401C>T	c.(1399-1401)ggC>ggT	p.G467G	APBA1_ENST00000470082.1_5'UTR	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	467	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GCTGAGTGGAGCCAAGGTAAT	0.532																																						ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(1399-1401)ggC>ggT		amyloid beta (A4) precursor protein-binding, family A, member 1							201	202	202					9																	72082820		2203	4300	6503	SO:0001819	synonymous_variant	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72082820G>A	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1401C>T	9.37:g.72082820G>A						APBA1_ENST00000470082.1_5'UTR	p.G467G	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			5	1623	-			467			PID.		O14914|O60570|Q5VYR8	Silent	SNP	ENST00000265381.4	37	c.1401C>T	CCDS6630.1																																																																																				0.532	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		91	216	0	0	0	1	0	91	216					A	72082820	G	A	72082820	2	1	148	1	0	0	0	0	0	0	0	1	756	958	34	2		2	APBA1	9	72082820	Silent	SNP	G	TCGA-DJ-A3VJ-01A-11D-A23M-08		72082820	69130611	4	3110											
AKT1	207	broad.mit.edu	37	chr14	105246551	105246551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgccaggtcttgatgtactCccctacagacgtgcgggtgg	13	13	1	2	rs34409589|rs121434592		TCGA-DJ-A3VJ-01A-11D-A23M-08	TCGA-DJ-A3VJ-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9159100-2b88-4427-a998-18128c25c730	4438cf9f-5bf6-4dc8-9c2e-5b3e30849310	g.chr14:105246551C>T	ENST00000554581.1	-	2	1529	c.49G>A	c.(49-51)Gag>Aag	p.E17K	AKT1_ENST00000349310.3_Missense_Mutation_p.E17K|AKT1_ENST00000544168.1_5'Flank|AKT1_ENST00000402615.2_Missense_Mutation_p.E17K|AKT1_ENST00000554848.1_Missense_Mutation_p.E17K|AKT1_ENST00000407796.2_Missense_Mutation_p.E17K|AKT1_ENST00000555528.1_Missense_Mutation_p.E17K			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	17	Inositol-(1,3,4,5)-tetrakisphosphate binding.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.		E -> K (in PROTEUSS and breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; results in increased phosphorylation at T-308 and higher basal ubiquitination; the mutant protein is more efficiently recruited to the plasma membrane; alters phosphatidylinositiol phosphates lipid specificity of the AKT1 PH domain; dbSNP:rs121434592). {ECO:0000269|PubMed:17611497, ECO:0000269|PubMed:21793738}.		activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.E17K(102)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TTGATGTACTCCCCTACAGAC	0.612	E17K(KU1919_URINARY_TRACT)	1	Mis		"breast, colorectal, ovarian, NSCLC"																																	ENST00000554581.1	E17K(KU1919_URINARY_TRACT)	1		Dom	yes		14	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1			E			"breast, colorectal, ovarian, NSCLC"		102	Substitution - Missense(102)	p.E17K(102)	breast(49)|urinary_tract(14)|thyroid(10)|endometrium(10)|lung(7)|large_intestine(4)|prostate(4)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1)	NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176						c.(49-51)Gag>Aag		v-akt murine thymoma viral oncogene homolog 1	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)						130	93	106					14																	105246551		2203	4300	6503	SO:0001583	missense	207				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	g.chr14:105246551C>T	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"Pleckstrin homology (PH) domain containing"	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.49G>A	14.37:g.105246551C>T	ENSP00000451828:p.Glu17Lys					AKT1_ENST00000402615.2_Missense_Mutation_p.E17K|AKT1_ENST00000349310.3_Missense_Mutation_p.E17K|AKT1_ENST00000407796.2_Missense_Mutation_p.E17K|AKT1_ENST00000554848.1_Missense_Mutation_p.E17K|AKT1_ENST00000555528.1_Missense_Mutation_p.E17K	p.E17K			P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	2	1529	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	17		E -> K (in breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; alters the PH domain conformation; results in activation of the protein; alters the subcellular location of the protein to the plasma membrane).	PH.		B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	ENST00000554581.1	37	c.49G>A	CCDS9994.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458989	0.84317	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000554848;ENST00000555926	T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17	4.61	4.61	0.57282	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.59838	0.2223	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64411	-0.6414	10	0.72032	D	0.01	.	16.1757	0.81847	0.0:1.0:0.0:0.0	.	17	P31749	AKT1_HUMAN	K	17	ENSP00000451828:E17K;ENSP00000384293:E17K;ENSP00000270202:E17K;ENSP00000385326:E17K;ENSP00000450688:E17K;ENSP00000451166:E17K;ENSP00000451824:E17K	ENSP00000270202:E17K	E	-	1	0	AKT1	104317596	1.000000	0.71417	0.639000	0.29394	0.296000	0.27459	7.347000	0.79356	2.395000	0.81488	0.462000	0.41574	GAG		0.612	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163		9	27	0	0	0	1	0	9	27					T	105246551	C	T	105246551	3	4	148	1	0	0	0	0	1	0	0	0	478	864	30	2	1441	2	AKT1	14	105246551	Missense_Mutation	SNP	C	TCGA-DJ-A3VJ-01A-11D-A23M-08		105246551	2102989	5	3111											
BPTF	2186	broad.mit.edu	37	chr17	65907817	65907817	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacacctctgtcaagagcaAtggactttgaaggaaaactg	9	10	2	2	rs200808758		TCGA-DJ-A3VJ-01A-11D-A23M-08	TCGA-DJ-A3VJ-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9159100-2b88-4427-a998-18128c25c730	4438cf9f-5bf6-4dc8-9c2e-5b3e30849310	g.chr17:65907817A>G	ENST00000321892.4	+	13	4256	c.4195A>G	c.(4195-4197)Atg>Gtg	p.M1399V	BPTF_ENST00000335221.5_Missense_Mutation_p.M1399V|BPTF_ENST00000424123.3_Missense_Mutation_p.M1260V|BPTF_ENST00000306378.6_Missense_Mutation_p.M1273V			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1399					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GTCAAGAGCAATGGACTTTGA	0.408													A|||	1	0.000199681	8e-04	0	5008	,	,		21683	0		0	False		,,,				2504	0					ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(4195-4197)Atg>Gtg		bromodomain PHD finger transcription factor							123	117	119					17																	65907817		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65907817A>G	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.4195A>G	17.37:g.65907817A>G	ENSP00000315454:p.Met1399Val					BPTF_ENST00000335221.5_Missense_Mutation_p.M1399V|BPTF_ENST00000424123.3_Missense_Mutation_p.M1260V|BPTF_ENST00000306378.6_Missense_Mutation_p.M1273V	p.M1399V			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		13	4256	+	all_cancers(12;6e-11)		1399					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.4195A>G		0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	A	0.012	-1.675487	0.00751	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.60920	0.15;0.15;0.16	5.61	-10.1	0.00402	.	.	.	.	.	T	0.22975	0.0555	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.40627	-0.9553	9	0.05525	T	0.97	0.9675	14.2709	0.66152	0.252:0.0:0.6484:0.0996	.	1273;1399	Q12830-2;Q12830-4	.;.	V	1273;1399;1399	ENSP00000307208:M1273V;ENSP00000334351:M1399V;ENSP00000315454:M1399V	ENSP00000307208:M1273V	M	+	1	0	BPTF	63338279	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	-4.746000	0.00191	-2.753000	0.00373	-0.280000	0.10049	ATG		0.408	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		65	157	0	0	0	1	0	65	157					G	65907817	A	G	65907817	3	3	148	1	0	0	0	0	1	0	0	0	1495	101	4	3	4245	3	BPTF	17	65907817	Missense_Mutation	SNP	A	TCGA-DJ-A3VJ-01A-11D-A23M-08		65907817	15287393	6	3112											
ANGPTL4	51129	broad.mit.edu	37	chr19	8436239	8436239	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgagttgctgcagttctccgTgcacctgggtggcgaggaca	15	11	1	0			TCGA-DJ-A3VJ-01A-11D-A23M-08	TCGA-DJ-A3VJ-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9159100-2b88-4427-a998-18128c25c730	4438cf9f-5bf6-4dc8-9c2e-5b3e30849310	g.chr19:8436239T>A	ENST00000301455.2	+	6	1043	c.872T>A	c.(871-873)gTg>gAg	p.V291E	ANGPTL4_ENST00000393962.2_Missense_Mutation_p.V253E|ANGPTL4_ENST00000541807.1_Missense_Mutation_p.V124E	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	291	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.		V -> M. {ECO:0000269|PubMed:17322881}.		angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular lipid metabolic process (GO:0044255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of lipoprotein lipase activity (GO:0051005)|positive regulation of angiogenesis (GO:0045766)|protein homooligomerization (GO:0051260)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	enzyme inhibitor activity (GO:0004857)			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						CAGTTCTCCGTGCACCTGGGT	0.687																																						ENST00000301455.2																			0				large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						c.(871-873)gTg>gAg		angiopoietin-like 4							54	47	49					19																	8436239		2203	4299	6502	SO:0001583	missense	51129				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding	g.chr19:8436239T>A	AF202636	CCDS12200.1, CCDS42493.1	19p13.3	2013-10-07				ENSG00000167772		"Fibrinogen C domain containing"	16039	protein-coding gene	gene with protein product	"fasting-induced adipose factor", "hepatic angiopoietin-related protein", "PPARG angiopoietin related protein", "hepatic fibrinogen/angiopoietin-related protein", "peroxisome proliferator-activated receptor (PPAR) gamma induced angiopoietin-related protein", "angiopoietin-related protein 4"	605910				10698685, 10866690, 23960078	Standard	NM_139314		Approved	pp1158, PGAR, ARP4, HFARP, FIAF, NL2	uc002mjq.1	Q9BY76		ENST00000301455.2:c.872T>A	19.37:g.8436239T>A	ENSP00000301455:p.Val291Glu					ANGPTL4_ENST00000393962.2_Missense_Mutation_p.V253E|ANGPTL4_ENST00000541807.1_Missense_Mutation_p.V124E	p.V291E	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN			6	1043	+			291		V -> M.	Fibrinogen C-terminal.		A8MY84|B4E089|D6W670|F5H0I2|Q53HQ6|Q53HU1|Q6UXN0|Q9HBV4|Q9NZU4|Q9Y5B3	Missense_Mutation	SNP	ENST00000301455.2	37	c.872T>A	CCDS12200.1	.	.	.	.	.	.	.	.	.	.	T	13.17	2.158637	0.38119	.	.	ENSG00000167772	ENST00000301455;ENST00000393962;ENST00000541807	T;T;T	0.21191	2.02;2.02;2.02	5.09	4.07	0.47477	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.423773	0.27327	N	0.019875	T	0.18923	0.0454	L	0.39898	1.24	0.27482	N	0.952556	P;P	0.38455	0.632;0.459	B;B	0.39258	0.295;0.295	T	0.08166	-1.0735	10	0.87932	D	0	.	9.5591	0.39357	0.0:0.0842:0.0:0.9158	.	253;291	A8MY84;Q9BY76	.;ANGL4_HUMAN	E	291;253;124	ENSP00000301455:V291E;ENSP00000377534:V253E;ENSP00000439833:V124E	ENSP00000301455:V291E	V	+	2	0	ANGPTL4	8342239	0.978000	0.34361	0.195000	0.23364	0.013000	0.08279	5.723000	0.68492	0.791000	0.33826	0.454000	0.30748	GTG		0.687	ANGPTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460322.1	NM_139314		16	53	0	0	0	1	0	16	53					A	8436239	T	A	8436239	3	1	148	1	0	0	0	0	1	0	0	0	616	1696	59	5	894	5	ANGPTL4	19	8436239	Missense_Mutation	SNP	T	TCGA-DJ-A3VJ-01A-11D-A23M-08		8436239	50692744	7	3113											
TSSK6	51079	broad.mit.edu	37	chr19	19625631	19625631	+	5'Flank	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cacccggtgaccatgacgtaGagcacgacgcccatgctcca	10	16	0	3	rs61743681	byFrequency	TCGA-DJ-A3VJ-01A-11D-A23M-08	TCGA-DJ-A3VJ-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9159100-2b88-4427-a998-18128c25c730	4438cf9f-5bf6-4dc8-9c2e-5b3e30849310	g.chr19:19625631G>A	ENST00000507754.4	+	0	0				CTC-260F20.3_ENST00000555938.1_5'Flank|TSSK6_ENST00000360913.3_Silent_p.L202L|TSSK6_ENST00000585580.3_Silent_p.L202L|NDUFA13_ENST00000428459.2_5'Flank|YJEFN3_ENST00000608404.1_5'Flank|NDUFA13_ENST00000503283.1_5'Flank|NDUFA13_ENST00000512771.3_5'Flank|NDUFA13_ENST00000252576.5_5'Flank			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13						apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						CCATGACGTAGAGCACGACGC	0.667													G|||	7	0.00139776	0	0.0014	5008	,	,		17048	0		0.006	False		,,,				2504	0					ENST00000360913.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(604-606)ctC>ctT		testis-specific serine kinase 6		G		4,4402	8.1+/-20.4	0,4,2199	57	44	48		606	5.0	1.0	19	dbSNP_129	48	40,8558	24.0+/-70.4	0,40,4259	no	coding-synonymous	TSSK6	NM_032037.2		0,44,6458	AA,AG,GG		0.4652,0.0908,0.3384		202/274	19625631	44,12960	2203	4299	6502	SO:0001631	upstream_gene_variant	83983				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:19625631G>A	AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"Mitochondrial respiratory chain complex / Complex I"	17194	protein-coding gene	gene with protein product	"complex I B16.6 subunit"	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211		19.37:g.19625631G>A	Exception_encountered					TSSK6_ENST00000585580.3_Silent_p.L202L	p.L202L			Q9BXA6	TSSK6_HUMAN			1	1207	-			202			Protein kinase.		B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Silent	SNP	ENST00000507754.4	37	c.606C>T	CCDS12404.2																																																																																				0.667	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965		4	56	0	0	0	1	0	4	56					A	19625631	G	A	19625631	1	1	148	0	1	0	0	0	0	0	0	0	16669	929	33	2		2	TSSK6	19	19625631	5'Flank	SNP	G	TCGA-DJ-A3VJ-01A-11D-A23M-08	11189392	19625631	39503352	8	3114											
KCND3	3752	broad.mit.edu	37	chr1	112524826	112524826	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcgtgctggtgtgggggtTctcgaaggcccgccacatgg	17	11	1	0			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr1:112524826T>C	ENST00000315987.2	-	2	1002	c.523A>G	c.(523-525)Aac>Gac	p.N175D	KCND3_ENST00000302127.4_Missense_Mutation_p.N175D|KCND3_ENST00000369697.1_Missense_Mutation_p.N175D	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	175					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GTGTGGGGGTTCTCGAAGGCC	0.627																																						ENST00000369697.1																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49						c.(523-525)Aac>Gac		potassium voltage-gated channel, Shal-related subfamily, member 3							47	44	45					1																	112524826		2203	4300	6503	SO:0001583	missense	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112524826T>C	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6239	protein-coding gene	gene with protein product		605411	"spinocerebellar ataxia 22", "spinocerebellar ataxia 19"	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.523A>G	1.37:g.112524826T>C	ENSP00000319591:p.Asn175Asp					KCND3_ENST00000315987.2_Missense_Mutation_p.N175D|KCND3_ENST00000302127.4_Missense_Mutation_p.N175D	p.N175D			Q9UK17	KCND3_HUMAN		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	1	592	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	175					O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	37	c.523A>G	CCDS843.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.843455	0.51057	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.96885	-4.16;-4.16;-4.16	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.92021	0.7472	L	0.47190	1.495	0.80722	D	1	B;B	0.18310	0.027;0.027	B;B	0.20184	0.028;0.028	D	0.90113	0.4193	10	0.52906	T	0.07	.	15.2726	0.73717	0.0:0.0:0.0:1.0	.	175;175	Q14D71;Q9UK17	.;KCND3_HUMAN	D	175	ENSP00000358711:N175D;ENSP00000319591:N175D;ENSP00000306923:N175D	ENSP00000306923:N175D	N	-	1	0	KCND3	112326349	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.139000	0.71728	2.094000	0.63399	0.460000	0.39030	AAC		0.627	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		9	44	0	0	0	1	0	9	44					C	112524826	T	C	112524826	3	2	149	1	0	0	0	0	1	0	0	0	8020	1783	62	3	1472	3	KCND3	1	112524826	Missense_Mutation	SNP	T	TCGA-DJ-A3VK-01A-11D-A23M-08		112524826	136725795	1	3115											
MRPS18C	51023	broad.mit.edu	37	chr4	84377236	84377236	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaaacgcggaaccatggcCgctgtggttgctgtttgcgg	15	9	0	1			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr4:84377236C>T	ENST00000295491.4	+	1	119	c.6C>T	c.(4-6)gcC>gcT	p.A2A	MRPS18C_ENST00000507019.1_Silent_p.A2A|HELQ_ENST00000440639.2_5'Flank|HELQ_ENST00000510985.1_5'Flank|HELQ_ENST00000295488.3_5'Flank|MRPS18C_ENST00000507349.1_Silent_p.A2A	NM_016067.2	NP_057151.1	Q9Y3D5	RT18C_HUMAN	mitochondrial ribosomal protein S18C	2					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5		Hepatocellular(203;0.114)				GAACCATGGCCGCTGTGGTTG	0.562																																						ENST00000295491.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(4-6)gcC>gcT		mitochondrial ribosomal protein S18C							189	196	194					4																	84377236		2203	4300	6503	SO:0001819	synonymous_variant	51023				translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	g.chr4:84377236C>T		CCDS3604.1, CCDS75159.1	4q21.21-q21.23	2012-09-13			ENSG00000163319	ENSG00000163319		"Mitochondrial ribosomal proteins / small subunits"	16633	protein-coding gene	gene with protein product		611983				11279123, 10810093	Standard	XM_005263043		Approved	MRPS18-1, CGI-134, FLJ11146, FLJ22967	uc003hor.4	Q9Y3D5	OTTHUMG00000130430	ENST00000295491.4:c.6C>T	4.37:g.84377236C>T						MRPS18C_ENST00000507349.1_Silent_p.A2A|MRPS18C_ENST00000507019.1_Silent_p.A2A	p.A2A	NM_016067.2	NP_057151.1	Q9Y3D5	RT18C_HUMAN			1	119	+		Hepatocellular(203;0.114)	2						Silent	SNP	ENST00000295491.4	37	c.6C>T	CCDS3604.1	.	.	.	.	.	.	.	.	.	.	C	5.072	0.199022	0.09652	.	.	ENSG00000163319	ENST00000509970	.	.	.	5.02	-10.0	0.00425	.	.	.	.	.	T	0.40670	0.1126	.	.	.	0.54753	D	0.99998	.	.	.	.	.	.	T	0.77574	-0.2537	4	.	.	.	-12.2571	2.1703	0.03847	0.137:0.2559:0.3103:0.2968	.	.	.	.	C	1	.	.	R	+	1	0	MRPS18C	84596260	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-6.587000	0.00060	-9.921000	0.00000	-1.812000	0.00611	CGC		0.562	MRPS18C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252820.2			37	169	0	0	0	1	0	37	169					T	84377236	C	T	84377236	2	4	149	1	0	0	0	0	0	0	0	1	9830	639	23	1		1	MRPS18C	4	84377236	Silent	SNP	C	TCGA-DJ-A3VK-01A-11D-A23M-08		84377236	106777040	2	3116											
RAI14	26064	broad.mit.edu	37	chr5	34808710	34808710	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctcagggctgccttcaagCtgtgcagattctctgcgaac	12	12	3	1			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr5:34808710C>A	ENST00000265109.3	+	7	688	c.401C>A	c.(400-402)gCt>gAt	p.A134D	RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000515799.1_Missense_Mutation_p.A137D|RAI14_ENST00000506376.1_Missense_Mutation_p.A126D|RAI14_ENST00000512629.1_Missense_Mutation_p.A134D|RAI14_ENST00000428746.2_Missense_Mutation_p.A134D|RAI14_ENST00000503673.1_Missense_Mutation_p.A134D|RAI14_ENST00000397449.1_Missense_Mutation_p.A127D	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	134						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					TGCCTTCAAGCTGTGCAGATT	0.478																																						ENST00000265109.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(400-402)gCt>gAt		retinoic acid induced 14							122	109	113					5																	34808710		2203	4300	6503	SO:0001583	missense	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34808710C>A	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"Ankyrin repeat domain containing"	14873	protein-coding gene	gene with protein product	"novel retinal pigment epithelial"	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.401C>A	5.37:g.34808710C>A	ENSP00000265109:p.Ala134Asp					RAI14_ENST00000512629.1_Missense_Mutation_p.A134D|RAI14_ENST00000397449.1_Missense_Mutation_p.A127D|RAI14_ENST00000503673.1_Missense_Mutation_p.A134D|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000506376.1_Missense_Mutation_p.A126D|RAI14_ENST00000515799.1_Missense_Mutation_p.A137D|RAI14_ENST00000428746.2_Missense_Mutation_p.A134D	p.A134D	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN			7	688	+	all_lung(31;0.000191)		134					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	c.401C>A	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276087	0.59649	.	.	ENSG00000039560	ENST00000265109;ENST00000514527;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000512625;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T;T;T	0.67345	-0.26;-0.16;-0.26;-0.26;-0.26;-0.26;-0.16;-0.26;-0.26	5.5	4.64	0.57946	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.71091	0.3299	M	0.70108	2.13	0.38192	D	0.939947	P;P;P;P	0.51147	0.879;0.942;0.903;0.942	B;P;P;P	0.51079	0.426;0.658;0.508;0.658	T	0.75682	-0.3233	9	0.59425	D	0.04	-1.5623	8.9142	0.35572	0.0:0.7728:0.1491:0.0781	.	126;134;137;134	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	D	134;134;134;134;134;137;134;126;127	ENSP00000265109:A134D;ENSP00000424879:A134D;ENSP00000422377:A134D;ENSP00000388725:A134D;ENSP00000422942:A134D;ENSP00000427123:A137D;ENSP00000425115:A134D;ENSP00000423854:A126D;ENSP00000380591:A127D	ENSP00000265109:A134D	A	+	2	0	RAI14	34844467	0.996000	0.38824	0.989000	0.46669	0.981000	0.71138	1.474000	0.35398	1.319000	0.45190	0.650000	0.86243	GCT		0.478	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		6	37	1	0	3.09899e-07	1	3.19583e-07	6	37					A	34808710	C	A	34808710	3	1	149	1	0	0	0	0	1	0	0	0	13008	797	28	4	488	4	RAI14	5	34808710	Missense_Mutation	SNP	C	TCGA-DJ-A3VK-01A-11D-A23M-08		34808710	146106550	3	3117											
ZCCHC10	54819	broad.mit.edu	37	chr5	132342584	132342584	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tccaaattccaagcatttctGacatcttacatgttgcttat	4	10	2	1			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr5:132342584G>C	ENST00000509437.1	-	3	143	c.136C>G	c.(136-138)Cag>Gag	p.Q46E	ZCCHC10_ENST00000513848.1_Missense_Mutation_p.Q24E|ZCCHC10_ENST00000324170.3_Missense_Mutation_p.Q24E|ZCCHC10_ENST00000509008.1_Missense_Mutation_p.Q24E|ZCCHC10_ENST00000355372.2_Missense_Mutation_p.Q46E|ZCCHC10_ENST00000513541.1_Missense_Mutation_p.Q46E|ZCCHC10_ENST00000508080.1_5'UTR			Q8TBK6	ZCH10_HUMAN	zinc finger, CCHC domain containing 10	46							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGCATTTCTGACATCTTACA	0.338																																						ENST00000324170.3																			0				skin(1)	1						c.(70-72)Cag>Gag		zinc finger, CCHC domain containing 10							73	66	69					5																	132342584		2202	4300	6502	SO:0001583	missense	54819						nucleic acid binding|zinc ion binding	g.chr5:132342584G>C	BC005211	CCDS4165.1, CCDS75300.1, CCDS75301.1, CCDS75302.1	5q31.1	2008-05-02			ENSG00000155329	ENSG00000155329		"Zinc fingers, CCHC domain containing"	25954	protein-coding gene	gene with protein product						12477932	Standard	XM_005272024		Approved	FLJ20094	uc003kyg.3	Q8TBK6	OTTHUMG00000129013	ENST00000509437.1:c.136C>G	5.37:g.132342584G>C	ENSP00000423276:p.Gln46Glu					ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000355372.2_Missense_Mutation_p.Q46E|ZCCHC10_ENST00000513848.1_Missense_Mutation_p.Q24E|ZCCHC10_ENST00000513541.1_Missense_Mutation_p.Q46E|ZCCHC10_ENST00000509008.1_Missense_Mutation_p.Q24E|ZCCHC10_ENST00000509437.1_Missense_Mutation_p.Q46E	p.Q24E	NM_017665.1	NP_060135.1	Q8TBK6	ZCH10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	136	-			46					Q9NXR4	Missense_Mutation	SNP	ENST00000509437.1	37	c.70C>G		.	.	.	.	.	.	.	.	.	.	G	21.9	4.220386	0.79464	.	.	ENSG00000155329	ENST00000324170;ENST00000355372;ENST00000509437;ENST00000513848;ENST00000513541;ENST00000509008	T;T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99;-0.99	4.82	4.82	0.62117	Zinc finger, CCHC-type (1);	0.000000	0.85682	D	0.000000	D	0.86940	0.6054	.	.	.	0.80722	D	1	P;D;P	0.59357	0.954;0.985;0.954	D;D;D	0.73708	0.932;0.981;0.932	D	0.88956	0.3390	9	0.87932	D	0	.	18.2538	0.90012	0.0:0.0:1.0:0.0	.	24;46;24	G3XAM1;Q8TBK6;Q8TBK6-2	.;ZCH10_HUMAN;.	E	24;46;46;24;46;24	ENSP00000324274:Q24E;ENSP00000347533:Q46E;ENSP00000423276:Q46E;ENSP00000427430:Q24E;ENSP00000422111:Q46E;ENSP00000421071:Q24E	ENSP00000324274:Q24E	Q	-	1	0	ZCCHC10	132370483	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.164000	0.94755	2.379000	0.81126	0.467000	0.42956	CAG		0.338	ZCCHC10-004	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000370163.1	NM_017665		6	17	0	0	0	1	0	6	17					C	132342584	G	C	132342584	3	2	149	1	0	0	0	0	1	0	0	0	17576	1299	45	4	454	4	ZCCHC10	5	132342584	Missense_Mutation	SNP	G	TCGA-DJ-A3VK-01A-11D-A23M-08	97533874	132342584	48572676	4	3118											
WRN	7486	broad.mit.edu	37	chr8	30998961	30998961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagaattctcagcgtcttGccgatcaatatcgcaggcac	8	12	4	1	rs140768346	byFrequency	TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr8:30998961G>A	ENST00000298139.5	+	25	3232	c.2983G>A	c.(2983-2985)Gcc>Acc	p.A995T		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	995					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)		TCAGCGTCTTGCCGATCAATA	0.378			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				G|||	4	0.000798722	0	0	5008	,	,		18656	0		0.002	False		,,,				2504	0.002				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.(2983-2985)Gcc>Acc	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	88	86	87		2983	-2.4	0.0	8	dbSNP_134	87	26,8574	17.9+/-57.8	0,26,4274	yes	missense	WRN	NM_000553.4	58	0,27,6476	AA,AG,GG		0.3023,0.0227,0.2076	benign	995/1433	30998961	27,12979	2203	4300	6503	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.chr8:30998961G>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.2983G>A	8.37:g.30998961G>A	ENSP00000298139:p.Ala995Thr						p.A995T	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)	25	3232	+		Breast(100;0.195)	995					A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	c.2983G>A	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	G	9.173	1.021565	0.19433	2.27E-4	0.003023	ENSG00000165392	ENST00000298139	T	0.30448	1.53	5.32	-2.44	0.06502	RQC domain (2);	0.630262	0.15632	N	0.252354	T	0.25754	0.0627	N	0.20881	0.62	0.21782	N	0.999545	B;B	0.16396	0.002;0.017	B;B	0.25140	0.038;0.058	T	0.22068	-1.0227	10	0.25751	T	0.34	0.6781	25.3341	0.99994	0.0:0.8642:0.1358:0.0	.	405;995	Q59F09;Q14191	.;WRN_HUMAN	T	995	ENSP00000298139:A995T	ENSP00000298139:A995T	A	+	1	0	WRN	31118503	0.332000	0.24722	0.017000	0.16124	0.492000	0.33523	0.170000	0.16663	-0.389000	0.07786	0.585000	0.79938	GCC		0.378	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			4	51	0	0	0	1	0	4	51					A	30998961	G	A	30998961	3	1	149	1	0	0	0	0	1	0	0	0	17399	1319	46	2	3077	2	WRN	8	30998961	Missense_Mutation	SNP	G	TCGA-DJ-A3VK-01A-11D-A23M-08		30998961	115365061	5	3119											
TAF1L	138474	broad.mit.edu	37	chr9	32634427	32634427	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgtctttctcagtttgaagCcatagtcaaacccactgcca	7	12	3	1			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr9:32634427C>A	ENST00000242310.4	-	1	1240	c.1151G>T	c.(1150-1152)gGc>gTc	p.G384V	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	384					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CAGTTTGAAGCCATAGTCAAA	0.463																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(1150-1152)gGc>gTc		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							242	226	231					9																	32634427		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32634427C>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1151G>T	9.37:g.32634427C>A	ENSP00000418379:p.Gly384Val					RP11-555J4.4_ENST00000430787.1_RNA	p.G384V	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	1240	-			384					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.1151G>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064317	0.55432	.	.	ENSG00000122728	ENST00000242310	T	0.69926	-0.44	0.479	0.479	0.16796	.	0.000000	0.85682	D	0.000000	T	0.78181	0.4243	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76626	-0.2890	10	0.87932	D	0	.	6.6915	0.23174	0.0:0.9998:0.0:2.0E-4	.	384	Q8IZX4	TAF1L_HUMAN	V	384	ENSP00000418379:G384V	ENSP00000418379:G384V	G	-	2	0	TAF1L	32624427	1.000000	0.71417	0.989000	0.46669	0.435000	0.31806	4.928000	0.63447	0.507000	0.28148	0.195000	0.17529	GGC		0.463	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			35	146	1	0	1.36615e-20	1	1.45428e-20	35	146					A	32634427	C	A	32634427	3	1	149	1	0	0	0	0	1	0	0	0	15520	739	26	4	4333	4	TAF1L	9	32634427	Missense_Mutation	SNP	C	TCGA-DJ-A3VK-01A-11D-A23M-08		32634427	108579004	6	3120											
TMEM203	94107	broad.mit.edu	37	chr9	140099754	140099754	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaggcccgggaccaggccaTccacacgcagtgccagcagc	13	16	0	1			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr9:140099754T>C	ENST00000343666.5	-	1	336	c.113A>G	c.(112-114)gAt>gGt	p.D38G	TPRN_ENST00000541945.1_5'Flank|NDOR1_ENST00000458322.2_5'Flank|NDOR1_ENST00000344894.5_5'Flank|TMEM203_ENST00000537254.1_Missense_Mutation_p.D38G|NDOR1_ENST00000371521.4_5'Flank|NDOR1_ENST00000427047.2_5'Flank	NM_053045.1	NP_444273.1	Q969S6	TM203_HUMAN	transmembrane protein 203	38						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(1)	2	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GACCAGGCCATCCACACGCAG	0.637																																						ENST00000343666.5																			0				central_nervous_system(1)|kidney(1)	2						c.(112-114)gAt>gGt		transmembrane protein 203							45	47	46					9																	140099754		2200	4289	6489	SO:0001583	missense	94107					integral to membrane		g.chr9:140099754T>C	BC009283	CCDS35185.1	9q34.3	2007-12-18			ENSG00000187713	ENSG00000187713			28217	protein-coding gene	gene with protein product	"HBeAg-binding protein 1"					12477932	Standard	NM_053045		Approved	MGC14327, HBEBP1	uc004clv.3	Q969S6	OTTHUMG00000020985	ENST00000343666.5:c.113A>G	9.37:g.140099754T>C	ENSP00000375053:p.Asp38Gly					TMEM203_ENST00000537254.1_Missense_Mutation_p.D38G	p.D38G	NM_053045.1	NP_444273.1	Q969S6	TM203_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	1	336	-	all_cancers(76;0.0926)		38					Q6NW08	Missense_Mutation	SNP	ENST00000343666.5	37	c.113A>G	CCDS35185.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.995212	0.74703	.	.	ENSG00000187713	ENST00000343666;ENST00000537254	T;T	0.33216	1.42;1.42	3.96	2.81	0.32909	.	0.000000	0.64402	U	0.000002	T	0.39358	0.1075	L	0.45285	1.41	0.53688	D	0.999978	D	0.67145	0.996	D	0.64144	0.922	T	0.13899	-1.0492	10	0.62326	D	0.03	.	6.8824	0.24181	0.0:0.1101:0.0:0.8899	.	38	Q969S6	TM203_HUMAN	G	38	ENSP00000375053:D38G;ENSP00000446302:D38G	ENSP00000375053:D38G	D	-	2	0	TMEM203	139219575	1.000000	0.71417	0.990000	0.47175	0.780000	0.44128	7.602000	0.82796	0.583000	0.29574	0.533000	0.62120	GAT		0.637	TMEM203-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055325.2	NM_053045		3	20	0	0	0	1	0	3	20					C	140099754	T	C	140099754	3	2	149	1	0	0	0	0	1	0	0	0	16125	1435	50	3	301	3	TMEM203	9	140099754	Missense_Mutation	SNP	T	TCGA-DJ-A3VK-01A-11D-A23M-08	107465327	140099754	1113677	7	3121											
ZNF438	220929	broad.mit.edu	37	chr10	31138963	31138963	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctatttctagggggttgaTatctaggaataggaagtttc	12	4	2	1			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr10:31138963T>C	ENST00000361310.3	-	6	700	c.371A>G	c.(370-372)tAt>tGt	p.Y124C	ZNF438_ENST00000444692.2_Missense_Mutation_p.Y114C|ZNF438_ENST00000375311.1_Intron|ZNF438_ENST00000436087.2_Missense_Mutation_p.Y124C|ZNF438_ENST00000538351.2_Missense_Mutation_p.Y75C|ZNF438_ENST00000331737.6_Missense_Mutation_p.Y114C|ZNF438_ENST00000442986.1_Missense_Mutation_p.Y124C|ZNF438_ENST00000413025.1_Missense_Mutation_p.Y124C|ZNF438_ENST00000452305.1_Missense_Mutation_p.Y114C			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	124					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				AGGGGGTTGATATCTAGGAAT	0.448																																						ENST00000538351.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(223-225)tAt>tGt		zinc finger protein 438							156	167	164					10																	31138963		2203	4300	6503	SO:0001583	missense	220929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:31138963T>C	AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"Zinc fingers, C2H2-type"	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.371A>G	10.37:g.31138963T>C	ENSP00000354663:p.Tyr124Cys					ZNF438_ENST00000331737.6_Missense_Mutation_p.Y114C|ZNF438_ENST00000444692.2_Missense_Mutation_p.Y114C|ZNF438_ENST00000361310.3_Missense_Mutation_p.Y124C|ZNF438_ENST00000452305.1_Missense_Mutation_p.Y114C|ZNF438_ENST00000436087.2_Missense_Mutation_p.Y124C|ZNF438_ENST00000442986.1_Missense_Mutation_p.Y124C|ZNF438_ENST00000413025.1_Missense_Mutation_p.Y124C|ZNF438_ENST00000375311.1_Intron	p.Y75C	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN			7	978	-		Prostate(175;0.0587)	124					A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	37	c.224A>G	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.288395	0.80803	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351	T;T;T;T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22	5.63	5.63	0.86233	.	0.054254	0.85682	D	0.000000	T	0.76521	0.3999	M	0.77103	2.36	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79921	-0.1599	10	0.87932	D	0	-27.2982	15.0111	0.71550	0.0:0.0:0.0:1.0	.	124;114	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	C	114;124;124;124;124;114;114;75	ENSP00000333571:Y114C;ENSP00000354663:Y124C;ENSP00000406934:Y124C;ENSP00000412363:Y124C;ENSP00000387546:Y124C;ENSP00000413060:Y114C;ENSP00000410898:Y114C;ENSP00000445461:Y75C	ENSP00000333571:Y114C	Y	-	2	0	ZNF438	31178969	1.000000	0.71417	0.988000	0.46212	0.983000	0.72400	5.664000	0.68045	2.144000	0.66660	0.533000	0.62120	TAT		0.448	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		7	100	0	0	0	1	0	7	100					C	31138963	T	C	31138963	3	2	149	1	0	0	0	0	1	0	0	0	17907	1406	49	3	2123	3	ZNF438	10	31138963	Missense_Mutation	SNP	T	TCGA-DJ-A3VK-01A-11D-A23M-08		31138963	104395784	8	3122											
OR51E2	81285	broad.mit.edu	37	chr11	4703767	4703767	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcatgcagagaaagaggtAcatcggagcgtgcaggctgc	15	8	0	2			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr11:4703767A>G	ENST00000396950.3	-	2	414	c.175T>C	c.(175-177)Tac>Cac	p.Y59H		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	59					cellular response to fatty acid (GO:0071398)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|positive regulation of blood pressure (GO:0045777)|positive regulation of renin secretion into blood stream (GO:1900135)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|signaling receptor activity (GO:0038023)|steroid hormone receptor activity (GO:0003707)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGAAAGAGGTACATCGGAGCG	0.512																																						ENST00000396950.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23						c.(175-177)Tac>Cac		olfactory receptor, family 51, subfamily E, member 2							116	97	103					11																	4703767		2201	4298	6499	SO:0001583	missense	81285				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4703767A>G	AY033942	CCDS7751.1	11p15	2012-08-09			ENSG00000167332	ENSG00000167332		"GPCR / Class A : Olfactory receptors"	15195	protein-coding gene	gene with protein product		611268				11118034	Standard	NM_030774		Approved	PSGR	uc001lzk.2	Q9H255	OTTHUMG00000133362	ENST00000396950.3:c.175T>C	11.37:g.4703767A>G	ENSP00000380153:p.Tyr59His						p.Y59H	NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)	2	414	-		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	59					B2RA63|Q6IF94	Missense_Mutation	SNP	ENST00000396950.3	37	c.175T>C	CCDS7751.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.018495	0.75275	.	.	ENSG00000167332	ENST00000396950;ENST00000532598	T;T	0.15487	2.42;2.42	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42172	D	0.000756	T	0.47948	0.1473	M	0.89214	3.015	0.51233	D	0.999919	D	0.89917	1.0	D	0.91635	0.999	T	0.57423	-0.7814	10	0.87932	D	0	.	13.681	0.62484	1.0:0.0:0.0:0.0	.	59	Q9H255	O51E2_HUMAN	H	59	ENSP00000380153:Y59H;ENSP00000432644:Y59H	ENSP00000380153:Y59H	Y	-	1	0	OR51E2	4660343	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	7.050000	0.76620	2.112000	0.64535	0.533000	0.62120	TAC		0.512	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257198.1	NM_030774		7	86	0	0	0	1	0	7	86					G	4703767	A	G	4703767	3	3	149	1	0	0	0	0	1	0	0	0	11095	391	14	3	791	3	OR51E2	11	4703767	Missense_Mutation	SNP	A	TCGA-DJ-A3VK-01A-11D-A23M-08		4703767	130302749	9	3123											
ARCN1	372	broad.mit.edu	37	chr11	118455206	118455206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacttaggccttcaggccCcagcaaggctttaaaacttg	8	13	1	0			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr11:118455206C>T	ENST00000264028.4	+	5	760	c.665C>T	c.(664-666)cCc>cTc	p.P222L	ARCN1_ENST00000392859.3_Missense_Mutation_p.P134L|ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000359415.4_Missense_Mutation_p.P263L	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	222					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CCTTCAGGCCCCAGCAAGGCT	0.393																																						ENST00000359415.4																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13						c.(787-789)cCc>cTc		archain 1							52	51	52					11																	118455206		2200	4295	6495	SO:0001583	missense	372				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol		g.chr11:118455206C>T	X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"coatomer protein complex, subunit delta"	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.665C>T	11.37:g.118455206C>T	ENSP00000264028:p.Pro222Leu					ARCN1_ENST00000264028.4_Missense_Mutation_p.P222L|ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000392859.3_Missense_Mutation_p.P134L	p.P263L			P48444	COPD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	6	953	+	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)	222					B4E1X2|E9PEU4|Q52M80	Missense_Mutation	SNP	ENST00000264028.4	37	c.788C>T	CCDS8400.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777276	0.70107	.	.	ENSG00000095139	ENST00000392859;ENST00000359415;ENST00000264028	T;T;T	0.52057	0.68;0.68;0.68	5.65	5.65	0.86999	.	0.051399	0.85682	D	0.000000	T	0.46776	0.1410	L	0.50333	1.59	0.80722	D	1	B;B;B	0.20459	0.016;0.045;0.001	B;B;B	0.18263	0.004;0.021;0.004	T	0.30001	-0.9993	10	0.37606	T	0.19	-2.7327	19.3272	0.94267	0.0:1.0:0.0:0.0	.	134;263;222	E9PEU4;B0YIW6;P48444	.;.;COPD_HUMAN	L	134;263;222	ENSP00000376599:P134L;ENSP00000352385:P263L;ENSP00000264028:P222L	ENSP00000264028:P222L	P	+	2	0	ARCN1	117960416	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.431000	0.80335	2.668000	0.90789	0.655000	0.94253	CCC		0.393	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389278.1			5	29	0	0	0	1	0	5	29					T	118455206	C	T	118455206	3	4	149	1	0	0	0	0	1	0	0	0	842	623	22	2	683	2	ARCN1	11	118455206	Missense_Mutation	SNP	C	TCGA-DJ-A3VK-01A-11D-A23M-08	113751439	118455206	16551310	10	3124											
C12orf66	144577	broad.mit.edu	37	chr12	64587880	64587880	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatgatgacattgggccaGtgcatgactggcctgtcgct	12	10	1	3			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr12:64587880G>A	ENST00000398055.3	-	3	1133	c.1080C>T	c.(1078-1080)caC>caT	p.H360H	C12orf66_ENST00000311915.8_Silent_p.H360H|C12orf66_ENST00000544871.1_Silent_p.H307H	NM_152440.4	NP_689653	Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	360										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						CATTGGGCCAGTGCATGACTG	0.522																																						ENST00000311915.8																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						c.(1078-1080)caC>caT		chromosome 12 open reading frame 66							102	98	99					12																	64587880		1990	4178	6168	SO:0001819	synonymous_variant	144577							g.chr12:64587880G>A		CCDS41803.1, CCDS73490.1	12q14.2	2008-08-08			ENSG00000174206	ENSG00000174206			26517	protein-coding gene	gene with protein product						12477932	Standard	NM_152440		Approved	FLJ32549	uc001srw.4	Q96MD2	OTTHUMG00000168763	ENST00000398055.3:c.1080C>T	12.37:g.64587880G>A						C12orf66_ENST00000398055.3_Silent_p.H360H|C12orf66_ENST00000544871.1_Silent_p.H307H	p.H360H			Q96MD2	CL066_HUMAN			3	1107	-			360					C9JX54|Q8IYA0	Silent	SNP	ENST00000398055.3	37	c.1080C>T	CCDS41803.1																																																																																				0.522	C12orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400921.1	NM_152440		9	112	0	0	0	1	0	9	112					A	64587880	G	A	64587880	2	1	149	1	0	0	0	0	0	0	0	1	1709	1020	36	2		2	C12orf66	12	64587880	Silent	SNP	G	TCGA-DJ-A3VK-01A-11D-A23M-08		64587880	69264015	11	3125											
KIAA0391	9692	broad.mit.edu	37	chr14	35742769	35742769	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcctccaccaaaagacAtagagattcttacctctatg	5	12	2	2			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr14:35742769A>G	ENST00000557565.1	+	8	2130	c.1749A>G	c.(1747-1749)acA>acG	p.T583T	KIAA0391_ENST00000604948.1_Silent_p.T488T|KIAA0391_ENST00000605870.1_Silent_p.T211T|KIAA0391_ENST00000603544.1_Silent_p.T567T|KIAA0391_ENST00000534898.4_Silent_p.T583T|KIAA0391_ENST00000250377.7_Silent_p.T488T|KIAA0391_ENST00000321130.10_Silent_p.T567T	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	583					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		ACCAAAAGACATAGAGATTCT	0.453																																						ENST00000557565.1																			0				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1747-1749)acA>acG		KIAA0391							100	87	92					14																	35742769		2203	4300	6503	SO:0001819	synonymous_variant	9692				tRNA processing	mitochondrion		g.chr14:35742769A>G	AB002389	CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1	14q13.2	2013-06-18			ENSG00000100890	ENSG00000100890			19958	protein-coding gene	gene with protein product	"mitochondrial RNase P subunit 3", "proteinaceous RNase P"	609947				9205841, 18984158	Standard	NM_001256678		Approved	MRPP3, PRORP	uc001wsy.2	O15091		ENST00000557565.1:c.1749A>G	14.37:g.35742769A>G						KIAA0391_ENST00000250377.7_Silent_p.T488T|KIAA0391_ENST00000321130.10_Silent_p.T567T|KIAA0391_ENST00000604948.1_Silent_p.T488T|KIAA0391_ENST00000603544.1_Silent_p.T567T|KIAA0391_ENST00000534898.4_Silent_p.T583T|KIAA0391_ENST00000605870.1_Silent_p.T211T	p.T583T			O15091	MRRP3_HUMAN	Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)	8	2130	+	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		583					B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Silent	SNP	ENST00000557565.1	37	c.1749A>G	CCDS32063.1																																																																																				0.453	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000411280.1	NM_014672		4	41	0	0	0	1	0	4	41					G	35742769	A	G	35742769	2	3	149	1	0	0	0	0	0	0	0	1	8172	204	8	3		3	KIAA0391	14	35742769	Silent	SNP	A	TCGA-DJ-A3VK-01A-11D-A23M-08		35742769	71606771	12	3126											
KIAA1409	57578	broad.mit.edu	37	chr14	94158128	94158128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatgtgctccctcttccacGcgttcatctttgctcagctg	7	15	4	0	rs369445399		TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr14:94158128G>A	ENST00000393151.2	+	47	7423	c.7423G>A	c.(7423-7425)Gcg>Acg	p.A2475T	UNC79_ENST00000553484.1_Missense_Mutation_p.A2497T|UNC79_ENST00000555664.1_Missense_Mutation_p.A2436T|UNC79_ENST00000256339.4_Missense_Mutation_p.A2298T			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2475					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CCTCTTCCACGCGTTCATCTT	0.527																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(7489-7491)Gcg>Acg		unc-79 homolog (C. elegans)		G	THR/ALA	0,4406		0,0,2203	133	111	119		6892	5.8	0.8	14		119	1,8599	1.2+/-3.3	0,1,4299	no	missense	UNC79	NM_020818.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	2298/2459	94158128	1,13005	2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94158128G>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7423G>A	14.37:g.94158128G>A	ENSP00000376858:p.Ala2475Thr					UNC79_ENST00000256339.4_Missense_Mutation_p.A2298T|UNC79_ENST00000555664.1_Missense_Mutation_p.A2436T|UNC79_ENST00000393151.2_Missense_Mutation_p.A2475T	p.A2497T			Q9P2D8	UNC79_HUMAN			48	7643	+			2475					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.7489G>A		.	.	.	.	.	.	.	.	.	.	G	23.9	4.467503	0.84533	0.0	1.16E-4	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.27104	1.69;1.73;1.69;1.69	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.32164	0.0820	L	0.60845	1.875	0.80722	D	1	B	0.28850	0.225	B	0.28011	0.085	T	0.06661	-1.0814	10	0.62326	D	0.03	-4.428	20.0321	0.97543	0.0:0.0:1.0:0.0	.	2497	C9JQL1	.	T	2298;2436;2497;2475;2497	ENSP00000256339:A2298T;ENSP00000450868:A2436T;ENSP00000451360:A2497T;ENSP00000376858:A2475T	ENSP00000256339:A2298T	A	+	1	0	KIAA1409	93227881	1.000000	0.71417	0.785000	0.31869	0.971000	0.66376	9.808000	0.99193	2.728000	0.93425	0.655000	0.94253	GCG		0.527	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		9	93	0	0	0	1	0	9	93					A	94158128	G	A	94158128	3	1	149	1	0	0	0	0	1	0	0	0	8230	1087	38	1	7066	1	KIAA1409	14	94158128	Missense_Mutation	SNP	G	TCGA-DJ-A3VK-01A-11D-A23M-08	58415359	94158128	13191412	13	3127											
SNX20	124460	broad.mit.edu	37	chr16	50707544	50707544	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgaaggcctcggcggggcGgtcgaggtcgcggtggcaca	20	12	0	0			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr16:50707544G>A	ENST00000330943.4	-	4	895	c.724C>T	c.(724-726)Cgc>Tgc	p.R242C	SNX20_ENST00000423026.2_Intron|RP11-401P9.5_ENST00000570241.2_RNA|SNX20_ENST00000300590.3_Intron|RP11-401P9.5_ENST00000570167.1_RNA	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	242					protein transport (GO:0015031)	endosome (GO:0005768)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						TCGGCGGGGCGGTCGAGGTCG	0.756																																						ENST00000330943.4																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						c.(724-726)Cgc>Tgc		sorting nexin 20																																				SO:0001583	missense	124460				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding	g.chr16:50707544G>A	AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208		"Sorting nexins"	30390	protein-coding gene	gene with protein product	"selectin ligand interactor cytoplasmic 1"	613281				18196517, 16782399	Standard	NM_182854		Approved	SLIC-1, SLIC1	uc002egk.2	Q7Z614	OTTHUMG00000133173	ENST00000330943.4:c.724C>T	16.37:g.50707544G>A	ENSP00000332062:p.Arg242Cys					SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron	p.R242C	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN			4	895	-			242					A8K9D5|Q08E98|Q6P4H2|Q8IV59	Missense_Mutation	SNP	ENST00000330943.4	37	c.724C>T	CCDS10745.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502777	0.44558	.	.	ENSG00000167208	ENST00000330943	T	0.68331	-0.32	5.78	2.76	0.32466	.	0.529691	0.20997	N	0.081932	T	0.56514	0.1990	M	0.63428	1.95	0.20563	N	0.99989	B	0.19935	0.04	B	0.12837	0.008	T	0.54536	-0.8279	10	0.62326	D	0.03	-12.7786	2.3569	0.04298	0.1463:0.1218:0.4538:0.2781	.	242	Q7Z614	SNX20_HUMAN	C	242	ENSP00000332062:R242C	ENSP00000332062:R242C	R	-	1	0	SNX20	49265045	0.836000	0.29430	0.125000	0.21846	0.502000	0.33828	1.158000	0.31737	0.370000	0.24538	0.561000	0.74099	CGC		0.756	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256879.2	NM_153337		5	18	0	0	0	1	0	5	18					A	50707544	G	A	50707544	3	1	149	1	0	0	0	0	1	0	0	0	14892	1116	39	1	373	1	SNX20	16	50707544	Missense_Mutation	SNP	G	TCGA-DJ-A3VK-01A-11D-A23M-08		50707544	39647209	14	3128											
XYLT2	64132	broad.mit.edu	37	chr17	48431804	48431804	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatccagtgggatgagagcCaagcccagcagcccatggat	13	12	0	1			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr17:48431804C>T	ENST00000017003.2	+	3	713	c.664C>T	c.(664-666)Caa>Taa	p.Q222*	XYLT2_ENST00000507602.1_Nonsense_Mutation_p.Q222*	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	222					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					GGATGAGAGCCAAGCCCAGCA	0.657																																						ENST00000017003.2																			0				endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.(664-666)Caa>Taa		xylosyltransferase II							33	35	34					17																	48431804		2203	4300	6503	SO:0001587	stop_gained	64132				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr17:48431804C>T	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"protein xylosyltransferase 2"	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.664C>T	17.37:g.48431804C>T	ENSP00000017003:p.Gln222*					XYLT2_ENST00000507602.1_Nonsense_Mutation_p.Q222*	p.Q222*	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN			3	713	+	Breast(11;7.18e-19)		222					Q6UY41|Q86V00	Nonsense_Mutation	SNP	ENST00000017003.2	37	c.664C>T	CCDS11563.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925785	0.52759	.	.	ENSG00000015532	ENST00000017003;ENST00000507602	.	.	.	4.48	3.45	0.39498	.	0.715268	0.14186	N	0.335684	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-10.7424	13.9256	0.63961	0.1521:0.8479:0.0:0.0	.	.	.	.	X	222	.	ENSP00000017003:Q222X	Q	+	1	0	XYLT2	45786803	0.000000	0.05858	0.533000	0.28001	0.443000	0.32047	-0.027000	0.12371	2.315000	0.78130	0.313000	0.20887	CAA		0.657	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	NM_022167		7	40	0	0	0	1	0	7	40					T	48431804	C	T	48431804	4	4	149	1	0	0	0	0	0	1	0	0	17461	595	21	2	674	2	XYLT2	17	48431804	Nonsense_Mutation	SNP	C	TCGA-DJ-A3VK-01A-11D-A23M-08		48431804	32763406	15	3129											
TMEM49	81671	broad.mit.edu	37	chr17	57915689	57915689	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ataggtccatctctgcagaaGccatttcaggagtacctgga	10	10	2	1			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr17:57915689G>C	ENST00000262291.4	+	11	1318	c.1008G>C	c.(1006-1008)aaG>aaC	p.K336N	VMP1_ENST00000536180.1_Missense_Mutation_p.K239N|VMP1_ENST00000537567.1_Missense_Mutation_p.K202N|VMP1_ENST00000539763.1_Missense_Mutation_p.K144N|VMP1_ENST00000588617.1_3'UTR|VMP1_ENST00000545362.1_Missense_Mutation_p.K280N|MIR21_ENST00000362134.1_RNA	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	336					autophagy (GO:0006914)|cell junction assembly (GO:0034329)|embryo implantation (GO:0007566)|regulation of autophagy (GO:0010506)|single organismal cell-cell adhesion (GO:0016337)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|pre-autophagosomal structure (GO:0000407)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						CTCTGCAGAAGCCATTTCAGG	0.493																																						ENST00000262291.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						c.(1006-1008)aaG>aaC		vacuole membrane protein 1							86	82	84					17																	57915689		2203	4300	6503	SO:0001583	missense	81671				autophagy|cell adhesion	endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane		g.chr17:57915689G>C		CCDS11619.1	17q23.1	2014-05-20	2011-03-02	2011-03-02	ENSG00000062716	ENSG00000062716			29559	protein-coding gene	gene with protein product	"ectopic P-granules autophagy protein 3 homolog (C. elegans)", "transport and golgi organization 5 homolog (Drosophila)"	611753	"transmembrane protein 49"	TMEM49		11230166, 11785947	Standard	NM_030938		Approved	EPG3, TANGO5	uc002ixu.4	Q96GC9	OTTHUMG00000179882	ENST00000262291.4:c.1008G>C	17.37:g.57915689G>C	ENSP00000262291:p.Lys336Asn					VMP1_ENST00000588617.1_3'UTR|VMP1_ENST00000539763.1_Missense_Mutation_p.K144N|VMP1_ENST00000537567.1_Missense_Mutation_p.K202N|VMP1_ENST00000545362.1_Missense_Mutation_p.K280N|VMP1_ENST00000536180.1_Missense_Mutation_p.K239N	p.K336N	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN			11	1318	+			336					B4DVV9|Q9H0P4|Q9P089	Missense_Mutation	SNP	ENST00000262291.4	37	c.1008G>C	CCDS11619.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854319	0.71719	.	.	ENSG00000062716	ENST00000262291;ENST00000537567;ENST00000539763;ENST00000536180;ENST00000545362	.	.	.	5.95	3.79	0.43588	.	0.000000	0.85682	D	0.000000	T	0.63534	0.2519	L	0.54908	1.71	0.80722	D	1	B;D;D;P	0.64830	0.169;0.97;0.994;0.594	B;P;P;B	0.62184	0.092;0.775;0.899;0.234	T	0.59506	-0.7442	9	0.22109	T	0.4	-14.1003	9.0778	0.36534	0.3114:0.0:0.6886:0.0	.	202;239;280;336	B4DED7;B4DGZ7;F5H2J3;Q96GC9	.;.;.;VMP1_HUMAN	N	336;202;144;239;280	.	ENSP00000262291:K336N	K	+	3	2	VMP1	55270471	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.382000	0.52463	1.518000	0.48934	0.650000	0.86243	AAG		0.493	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448793.1	NM_030938		10	52	0	0	0	1	0	10	52					C	57915689	G	C	57915689	3	2	149	1	0	0	0	0	1	0	0	0	16170	962	34	4	1046	4	TMEM49	17	57915689	Missense_Mutation	SNP	G	TCGA-DJ-A3VK-01A-11D-A23M-08	9483885	57915689	23279521	16	3130											
PRDM15	63977	broad.mit.edu	37	chr21	43259762	43259762	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cttgtcttccacgatgactaGaggctgctcagctttggaca	10	11	2	2			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr21:43259762G>C	ENST00000269844.3	-	14	2049	c.1939C>G	c.(1939-1941)Cta>Gta	p.L647V	PRDM15_ENST00000398548.1_Missense_Mutation_p.L318V|PRDM15_ENST00000447207.2_Missense_Mutation_p.L281V|PRDM15_ENST00000422911.1_Missense_Mutation_p.L318V|PRDM15_ENST00000538201.1_Missense_Mutation_p.L281V	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	647					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						ACGATGACTAGAGGCTGCTCA	0.617																																						ENST00000422911.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(952-954)Cta>Gta		PR domain containing 15							168	164	165					21																	43259762		2203	4300	6503	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43259762G>C	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"Zinc fingers, C2H2-type"	13999	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 83"	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.1939C>G	21.37:g.43259762G>C	ENSP00000269844:p.Leu647Val					PRDM15_ENST00000447207.2_Missense_Mutation_p.L281V|PRDM15_ENST00000538201.1_Missense_Mutation_p.L281V|PRDM15_ENST00000398548.1_Missense_Mutation_p.L318V|PRDM15_ENST00000269844.3_Missense_Mutation_p.L647V	p.L318V			P57071	PRD15_HUMAN			7	1053	-			647					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.952C>G	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833905	0.32421	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844;ENST00000380489	T;T;T;T;T	0.08720	3.14;3.14;3.15;3.14;3.06	4.67	2.72	0.32119	.	.	.	.	.	T	0.07098	0.0180	L	0.31294	0.92	0.33270	D	0.56089	B;B;B	0.21071	0.051;0.007;0.003	B;B;B	0.14023	0.01;0.004;0.002	T	0.07195	-1.0785	9	0.52906	T	0.07	-3.6198	10.5143	0.44881	0.0763:0.1331:0.7906:0.0	.	647;318;318	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	V	318;318;281;281;647;281	ENSP00000408592:L318V;ENSP00000381556:L318V;ENSP00000444044:L281V;ENSP00000390245:L281V;ENSP00000269844:L647V	ENSP00000269844:L647V	L	-	1	2	PRDM15	42132831	0.650000	0.27331	0.229000	0.23960	0.291000	0.27294	2.824000	0.48088	1.099000	0.41499	0.591000	0.81541	CTA		0.617	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		12	253	0	0	0	1	0	12	253					C	43259762	G	C	43259762	3	2	149	1	0	0	0	0	1	0	0	0	12456	933	33	4	2656	4	PRDM15	21	43259762	Missense_Mutation	SNP	G	TCGA-DJ-A3VK-01A-11D-A23M-08		43259762	4870133	17	3131											
RNF215	200312	broad.mit.edu	37	chr22	30776280	30776280	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggctcccacctggcctccGagctcccgctggctctgccg	11	20	1	0			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr22:30776280G>A	ENST00000382363.3	-	6	929	c.855C>T	c.(853-855)ctC>ctT	p.L285L	RP1-130H16.16_ENST00000332468.4_RNA	NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	285						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						CCTGGCCTCCGAGCTCCCGCT	0.687																																						ENST00000382363.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						c.(853-855)ctC>ctT		ring finger protein 215							29	35	33					22																	30776280		2202	4296	6498	SO:0001819	synonymous_variant	200312					integral to membrane	zinc ion binding	g.chr22:30776280G>A		CCDS33633.1	22q12.2	2013-01-09			ENSG00000099999	ENSG00000099999		"RING-type (C3HC4) zinc fingers"	33434	protein-coding gene	gene with protein product							Standard	NM_001017981		Approved		uc003ahp.3	Q9Y6U7	OTTHUMG00000151016	ENST00000382363.3:c.855C>T	22.37:g.30776280G>A							p.L285L	NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN			6	929	-			285					A6NEL1	Silent	SNP	ENST00000382363.3	37	c.855C>T	CCDS33633.1	.	.	.	.	.	.	.	.	.	.	G	6.709	0.499460	0.12762	.	.	ENSG00000099999	ENST00000215798	.	.	.	3.94	-7.88	0.01178	.	.	.	.	.	T	0.38321	0.1036	.	.	.	0.38082	D	0.936703	.	.	.	.	.	.	T	0.43925	-0.9361	4	.	.	.	-41.4287	5.0027	0.14273	0.1503:0.3115:0.4355:0.1027	.	.	.	.	W	223	.	.	R	-	1	2	RNF215	29106280	0.000000	0.05858	0.505000	0.27651	0.840000	0.47671	-1.671000	0.01954	-2.751000	0.00374	-0.304000	0.09214	CGG		0.687	RNF215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320960.1	NM_001017981		9	47	0	0	0	1	0	9	47					A	30776280	G	A	30776280	2	1	149	1	0	0	0	0	0	0	0	1	13479	1045	37	1		1	RNF215	22	30776280	Silent	SNP	G	TCGA-DJ-A3VK-01A-11D-A23M-08		30776280	20528286	18	3132											
FRRS1	391059	broad.mit.edu	37	chr1	100194098	100194099	+	Frame_Shift_Del	DEL	AT	AT	-													atgtaatagcttgtgtttagAtcaaatctattcttaactcc							TCGA-DJ-A3VL-01A-11D-A23M-08	TCGA-DJ-A3VL-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d03960-71e2-415a-8527-b210e9f352d5	e0555f5b-ce59-4a73-af30-715b60087a4a	g.chr1:100194098_100194099delAT	ENST00000414213.1	-	9	1557_1558	c.956_957delAT	c.(955-957)gatfs	p.D319fs	FRRS1_ENST00000287474.5_Frame_Shift_Del_p.D319fs			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	319	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.					integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		TTGTGTTTAGATCAAATCTATT	0.391																																						ENST00000414213.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26						c.(955-957)gfs		ferric-chelate reductase 1																																				SO:0001589	frameshift_variant	391059				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding	g.chr1:100194098_100194099delAT	AK131302	CCDS30780.1	1p21.3	2009-11-30	2006-02-22	2006-02-22	ENSG00000156869	ENSG00000156869			27622	protein-coding gene	gene with protein product		611578	"stromal cell derived factor receptor 2 homolog (mouse)"	SDFR2			Standard	NM_001013660		Approved	SDR2	uc001dsh.1	Q6ZNA5	OTTHUMG00000010768	ENST00000414213.1:c.956_957delAT	1.37:g.100194098_100194099delAT	ENSP00000393884:p.Asp319fs					FRRS1_ENST00000287474.5_Frame_Shift_Del_p.D319fs	p.D319fs			Q6ZNA5	FRRS1_HUMAN		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)	9	1557_1558	-		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)	319			DOMON.		A6NLN7	Frame_Shift_Del	DEL	ENST00000414213.1	37	c.956_957delAT																																																																																					0.391	FRRS1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001013660		9	134						9	134	---	---	---	---	-	100194099	AT	-	100194098	7	5	150	1	0	1	0	1	0	0	0	0	6060	330	12	0	959	0	FRRS1	1	100194098	Frame_Shift_Del	DEL	AT	TCGA-DJ-A3VL-01A-11D-A23M-08		100194098	149056523	1	3133											
NTSR2	23620	broad.mit.edu	37	chr2	11809697	11809697	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactcgcgaggcgggctccgGctccccgtccgccgtctcga	13	19	1	0			TCGA-DJ-A3VL-01A-11D-A23M-08	TCGA-DJ-A3VL-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d03960-71e2-415a-8527-b210e9f352d5	e0555f5b-ce59-4a73-af30-715b60087a4a	g.chr2:11809697G>A	ENST00000306928.5	-	1	593	c.559C>T	c.(559-561)Ccg>Tcg	p.P187S		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	187					cell surface receptor signaling pathway (GO:0007166)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of membrane potential (GO:0042391)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	GCGGGCTCCGGCTCCCCGTCC	0.711																																						ENST00000306928.5																			0				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17						c.(559-561)Ccg>Tcg		neurotensin receptor 2	Levocabastine(DB01106)						9	10	10					2																	11809697		1785	3549	5334	SO:0001583	missense	23620				sensory perception	integral to plasma membrane		g.chr2:11809697G>A	Y10148	CCDS1681.1	2p25.1	2012-08-08			ENSG00000169006	ENSG00000169006		"GPCR / Class A : Neurotensin receptors"	8040	protein-coding gene	gene with protein product		605538				8647296, 9851594	Standard	NM_012344		Approved	NTR2	uc002rbq.4	O95665	OTTHUMG00000119083	ENST00000306928.5:c.559C>T	2.37:g.11809697G>A	ENSP00000303686:p.Pro187Ser						p.P187S	NM_012344.3	NP_036476.1	O95665	NTR2_HUMAN		Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	1	593	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		187					Q53QQ5|Q57Z87|Q8IY58|Q8TBH6	Missense_Mutation	SNP	ENST00000306928.5	37	c.559C>T	CCDS1681.1	.	.	.	.	.	.	.	.	.	.	G	5.733	0.319636	0.10845	.	.	ENSG00000169006	ENST00000306928	T	0.37752	1.18	3.24	2.36	0.29203	GPCR, rhodopsin-like superfamily (1);	0.245759	0.21264	N	0.077438	T	0.22513	0.0543	L	0.39566	1.225	0.09310	N	1	B	0.18166	0.026	B	0.25614	0.062	T	0.23583	-1.0184	10	0.07990	T	0.79	-21.6494	4.7668	0.13135	0.125:0.2228:0.6521:0.0	.	187	O95665	NTR2_HUMAN	S	187	ENSP00000303686:P187S	ENSP00000303686:P187S	P	-	1	0	NTSR2	11727148	0.030000	0.19436	0.012000	0.15200	0.136000	0.21042	1.593000	0.36686	0.952000	0.37798	0.555000	0.69702	CCG		0.711	NTSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239297.1			13	22	0	0	0	1	0	13	22					A	11809697	G	A	11809697	3	1	150	1	0	0	0	0	1	0	0	0	10711	1203	42	2	689	2	NTSR2	2	11809697	Missense_Mutation	SNP	G	TCGA-DJ-A3VL-01A-11D-A23M-08		11809697	231389676	2	3134											
CYTIP	9595	broad.mit.edu	37	chr2	158275098	158275098	+	Frame_Shift_Del	DEL	T	T	-													cacccatttttgtttcaaagTttgctgtgagattaaaaaaa							TCGA-DJ-A3VL-01A-11D-A23M-08	TCGA-DJ-A3VL-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d03960-71e2-415a-8527-b210e9f352d5	e0555f5b-ce59-4a73-af30-715b60087a4a	g.chr2:158275098delT	ENST00000264192.3	-	7	671	c.550delA	c.(550-552)actfs	p.T184fs	CYTIP_ENST00000540637.1_Frame_Shift_Del_p.T78fs	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	184	Interaction with CYTH1.				regulation of cell adhesion (GO:0030155)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						TGTTTCAAAGTTTGCTGTGAG	0.328																																						ENST00000264192.3																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						c.(550-552)ctfs		cytohesin 1 interacting protein							119	114	116					2																	158275098		2203	4300	6503	SO:0001589	frameshift_variant	9595				regulation of cell adhesion	cell cortex|early endosome	protein binding	g.chr2:158275098delT	L06633	CCDS2204.1	2q11.2	2011-09-08	2008-08-14	2008-08-19	ENSG00000115165	ENSG00000115165			9506	protein-coding gene	gene with protein product	"cytohesin binding protein HE", "cytohesin binder and regulator"	604448	"pleckstrin homology, Sec7 and coiled-coil domains, binding protein"	PSCDBP		18926288, 10343115, 11867758, 20530790, 21562043	Standard	NM_004288		Approved	B3-1, HE, CYBR, CASP, CYTHIP	uc002tzj.1	O60759	OTTHUMG00000154551	ENST00000264192.3:c.550delA	2.37:g.158275098delT	ENSP00000264192:p.Thr184fs					CYTIP_ENST00000540637.1_Frame_Shift_Del_p.T78fs	p.T184fs	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN			7	671	-			184			Interaction with CYTH1.		B4DWH9|Q15630|Q8NE32	Frame_Shift_Del	DEL	ENST00000264192.3	37	c.550delA	CCDS2204.1																																																																																				0.328	CYTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254926.1	NM_004288		7	146						7	146	---	---	---	---	-	158275098	T	-	158275098	7	5	150	1	0	1	0	1	0	0	0	0	4207	1725	60	0	537	0	CYTIP	2	158275098	Frame_Shift_Del	DEL	T	TCGA-DJ-A3VL-01A-11D-A23M-08	146465401	158275098	84924275	3	3135											
PRRT3	285368	broad.mit.edu	37	chr3	9991405	9991405	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagaagctcttgtgagTccagaggtcctgtccagccg	13	12	1	3			TCGA-DJ-A3VL-01A-11D-A23M-08	TCGA-DJ-A3VL-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d03960-71e2-415a-8527-b210e9f352d5	e0555f5b-ce59-4a73-af30-715b60087a4a	g.chr3:9991405T>G	ENST00000412055.1	-	2	524	c.395A>C	c.(394-396)gAc>gCc	p.D132A	PRRT3_ENST00000411976.2_Missense_Mutation_p.D132A|PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	132						integral component of membrane (GO:0016021)				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						CTCTTGTGAGTCCAGAGGTCC	0.572																																						ENST00000412055.1																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						c.(394-396)gAc>gCc		proline-rich transmembrane protein 3							70	75	74					3																	9991405		2027	4198	6225	SO:0001583	missense	285368					integral to membrane		g.chr3:9991405T>G	AK090993	CCDS43049.1	3p25.3	2011-10-10			ENSG00000163704	ENSG00000163704		"Proline-rich transmembrane proteins"	26591	protein-coding gene	gene with protein product							Standard	NM_207351		Approved	FLJ33674	uc003bul.2	Q5FWE3	OTTHUMG00000155285	ENST00000412055.1:c.395A>C	3.37:g.9991405T>G	ENSP00000392511:p.Asp132Ala					PRRT3-AS1_ENST00000431558.1_RNA|PRRT3_ENST00000411976.2_Missense_Mutation_p.D132A	p.D132A	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN			2	524	-			132					Q49AD0|Q6UXY6|Q8NBC9	Missense_Mutation	SNP	ENST00000412055.1	37	c.395A>C	CCDS43049.1	.	.	.	.	.	.	.	.	.	.	T	12.13	1.845620	0.32606	.	.	ENSG00000163704	ENST00000412055;ENST00000411976	T;T	0.25085	2.15;1.82	4.28	1.88	0.25563	.	0.425545	0.20014	N	0.101055	T	0.20941	0.0504	L	0.34521	1.04	0.09310	N	1	P;P	0.49961	0.93;0.562	P;B	0.47827	0.558;0.201	T	0.07195	-1.0785	9	.	.	.	-9.3952	5.9792	0.19397	0.0:0.2223:0.0:0.7777	.	132;132	Q5FWE3-3;Q5FWE3	.;PRRT3_HUMAN	A	132	ENSP00000392511:D132A;ENSP00000404512:D132A	.	D	-	2	0	PRRT3	9966405	0.004000	0.15560	0.009000	0.14445	0.268000	0.26511	0.716000	0.25836	0.279000	0.22186	0.528000	0.53228	GAC		0.572	PRRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339322.1	NM_207351		6	91	0	0	0	1	0	6	91					G	9991405	T	G	9991405	3	3	150	1	0	0	0	0	1	0	0	0	12611	1667	58	5	2562	5	PRRT3	3	9991405	Missense_Mutation	SNP	T	TCGA-DJ-A3VL-01A-11D-A23M-08		9991405	188031025	4	3136											
RASA1	5921	broad.mit.edu	37	chr5	86676346	86676346	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gacattgagatatatttatgGgtgtttacagaaatctgttc	9	4	1	2			TCGA-DJ-A3VL-01A-11D-A23M-08	TCGA-DJ-A3VL-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d03960-71e2-415a-8527-b210e9f352d5	e0555f5b-ce59-4a73-af30-715b60087a4a	g.chr5:86676346G>C	ENST00000274376.6	+	20	3188	c.2624G>C	c.(2623-2625)gGg>gCg	p.G875A	RASA1_ENST00000506290.1_Missense_Mutation_p.G709A|RASA1_ENST00000512763.1_Missense_Mutation_p.G708A|RASA1_ENST00000456692.2_Missense_Mutation_p.G698A	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	875	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				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)		TATATTTATGGGTGTTTACAG	0.363																																						ENST00000456692.2																			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.(2092-2094)gGg>gCg		RAS p21 protein activator (GTPase activating protein) 1							154	152	153					5																	86676346		2203	4300	6503	SO:0001583	missense	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.chr5:86676346G>C		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.2624G>C	5.37:g.86676346G>C	ENSP00000274376:p.Gly875Ala					RASA1_ENST00000506290.1_Missense_Mutation_p.G709A|RASA1_ENST00000512763.1_Missense_Mutation_p.G708A|RASA1_ENST00000274376.6_Missense_Mutation_p.G875A	p.G698A	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	20	2208	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	875					B2R6W3|Q9UDI1	Missense_Mutation	SNP	ENST00000274376.6	37	c.2093G>C	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.045203	0.93685	.	.	ENSG00000145715	ENST00000274376;ENST00000456692;ENST00000512763;ENST00000506290	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.53	5.53	0.82687	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	T	0.80649	0.4663	L	0.29908	0.895	0.80722	D	1	P;D;D;P;D	0.60575	0.899;0.988;0.978;0.943;0.976	P;P;P;P;P	0.59595	0.48;0.86;0.686;0.529;0.66	T	0.78107	-0.2333	10	0.33141	T	0.24	.	19.8241	0.96610	0.0:0.0:1.0:0.0	.	709;708;709;698;875	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	A	875;698;708;709	ENSP00000274376:G875A;ENSP00000411221:G698A;ENSP00000422008:G708A;ENSP00000420905:G709A	ENSP00000274376:G875A	G	+	2	0	RASA1	86712102	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.587000	0.98229	2.758000	0.94735	0.655000	0.94253	GGG		0.363	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		21	49	0	0	0	1	0	21	49					C	86676346	G	C	86676346	3	2	150	1	0	0	0	0	1	0	0	0	13060	1232	43	4	2714	4	RASA1	5	86676346	Missense_Mutation	SNP	G	TCGA-DJ-A3VL-01A-11D-A23M-08		86676346	94238914	5	3137											
BRAF	673	broad.mit.edu	37	chr7	140477827	140477841	+	In_Frame_Del	DEL	TGCTGAGGTGTAGGT	TGCTGAGGTGTAGGT	-													catttttgaaggcttgtaacTgctgaggtgtaggtgctgtc					rs375520366		TCGA-DJ-A3VL-01A-11D-A23M-08	TCGA-DJ-A3VL-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d03960-71e2-415a-8527-b210e9f352d5	e0555f5b-ce59-4a73-af30-715b60087a4a	g.chr7:140477827_140477841delTGCTGAGGTGTAGGT	ENST00000288602.6	-	12	1527_1541	c.1467_1481delACCTACACCTCAGCA	c.(1465-1482)gcacctacacctcagcag>gcg	p.PTPQQ490del		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	490	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L485_P490>Y(2)|p.N486_P490del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	GGCTTGTAACTGCTGAGGTGTAGGTGCTGTCACAT	0.353		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6		61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	3	Complex - deletion inframe(2)|Deletion - In frame(1)	p.L485_P490>Y(2)|p.N486_P490del(1)	lung(2)|ovary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1465-1482)gcg>gc		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)																																			SO:0001651	inframe_deletion	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140477827_140477841delTGCTGAGGTGTAGGT	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1467_1481delACCTACACCTCAGCA	7.37:g.140477827_140477841delTGCTGAGGTGTAGGT	ENSP00000288602:p.Pro490_Gln494del						p.APTPQQ489del	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			12	1527_1541	-	Melanoma(164;0.00956)		489			Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	In_Frame_Del	DEL	ENST00000288602.6	37	c.1467_1481delACCTACACCTCAGCA	CCDS5863.1																																																																																				0.353	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		8	48						8	48	---	---	---	---	-	140477841	TGCTGAGGTGTAGGT	-	140477827	7	5	150	1	0	1	0	1	0	0	0	0	1496	1580	55	0	847	0	BRAF	7	140477827	In_Frame_Del	DEL	TGCTGAGGTGTAGGT	TCGA-DJ-A3VL-01A-11D-A23M-08		140477827	18660836	6	3138											
ZYX	7791	broad.mit.edu	37	chr7	143080154	143080155	+	Frame_Shift_Ins	INS	-	-	C													ctaacacccagccccgagggINScccccagcctcatctccggc							TCGA-DJ-A3VL-01A-11D-A23M-08	TCGA-DJ-A3VL-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d03960-71e2-415a-8527-b210e9f352d5	e0555f5b-ce59-4a73-af30-715b60087a4a	g.chr7:143080154_143080155insC	ENST00000322764.5	+	5	1107_1108	c.762_763insC	c.(763-765)cccfs	p.P255fs	ZYX_ENST00000392910.2_Frame_Shift_Ins_p.P98fs|ZYX_ENST00000449423.2_Frame_Shift_Ins_p.P168fs|ZYX_ENST00000477373.1_3'UTR|AC093673.5_ENST00000429630.1_RNA	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	255					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|integrin-mediated signaling pathway (GO:0007229)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					AGCCCCGAGGGCCCCCAGCCTC	0.599																																						ENST00000322764.5																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17						c.(760-765)ggccccfs		zyxin																																				SO:0001589	frameshift_variant	7791				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding	g.chr7:143080154_143080155insC	X95735	CCDS5883.1	7q32	2010-02-26			ENSG00000159840	ENSG00000159840			13200	protein-coding gene	gene with protein product		602002				8917469, 8940160	Standard	XM_005250052		Approved		uc003wcx.3	Q15942	OTTHUMG00000023822	ENST00000322764.5:c.767dupC	7.37:g.143080159_143080159dupC	ENSP00000324422:p.Pro255fs					ZYX_ENST00000449423.2_Frame_Shift_Ins_p.GP167fs|ZYX_ENST00000477373.1_3'UTR|ZYX_ENST00000392910.2_Frame_Shift_Ins_p.GP97fs	p.GP254fs	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN			5	1107_1108	+	Melanoma(164;0.205)		254					A4D2G6|Q6I9S4	Frame_Shift_Ins	INS	ENST00000322764.5	37	c.762_763insC	CCDS5883.1																																																																																				0.599	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156296.2	NM_003461		9	491						9	491	---	---	---	---	C	143080155	-	C	143080154	7	5	150	1	0	1	1	0	0	0	0	0	18251	1190	42	0	776	0	ZYX	7	143080154	Frame_Shift_Ins	INS	-	TCGA-DJ-A3VL-01A-11D-A23M-08	2602327	143080154	16058509	7	3139											
OGFOD2	79676	broad.mit.edu	37	chr12	123463748	123463748	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cactggtgagcgttggaaccTtgtcgtctggctccgagcct	13	12	1	1			TCGA-DJ-A3VL-01A-11D-A23M-08	TCGA-DJ-A3VL-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d03960-71e2-415a-8527-b210e9f352d5	e0555f5b-ce59-4a73-af30-715b60087a4a	g.chr12:123463748T>G	ENST00000228922.7	+	7	940	c.908T>G	c.(907-909)cTt>cGt	p.L303R	ARL6IP4_ENST00000392435.2_5'Flank|ARL6IP4_ENST00000454885.2_5'Flank|ARL6IP4_ENST00000543566.1_5'Flank|OGFOD2_ENST00000397389.2_Missense_Mutation_p.L243R|OGFOD2_ENST00000545317.1_Missense_Mutation_p.L139R|ARL6IP4_ENST00000357866.4_5'Flank|ARL6IP4_ENST00000315580.5_5'Flank|ABCB9_ENST00000542678.1_5'UTR|ARL6IP4_ENST00000426960.2_5'Flank|OGFOD2_ENST00000538755.1_Missense_Mutation_p.L139R|ARL6IP4_ENST00000439686.2_5'Flank|OGFOD2_ENST00000538628.1_Missense_Mutation_p.L139R|OGFOD2_ENST00000454694.2_Missense_Mutation_p.L139R|OGFOD2_ENST00000545612.1_Missense_Mutation_p.L139R|ARL6IP4_ENST00000412505.2_5'Flank|RP11-197N18.2_ENST00000540866.2_RNA|OGFOD2_ENST00000536150.1_Missense_Mutation_p.L139R|ARL6IP4_ENST00000453766.2_5'Flank			Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 2	303	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.						iron ion binding (GO:0005506)|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)			breast(1)|endometrium(2)|lung(4)|pancreas(1)	8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	CGTTGGAACCTTGTCGTCTGG	0.672																																						ENST00000397389.2																			0				breast(1)|endometrium(2)|lung(4)|pancreas(1)	8						c.(727-729)cTt>cGt		2-oxoglutarate and iron-dependent oxygenase domain containing 2	Vitamin C(DB00126)						40	47	45					12																	123463748		2150	4240	6390	SO:0001583	missense	79676						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr12:123463748T>G	AK094820	CCDS41855.1	12q24.31	2010-11-23			ENSG00000111325	ENSG00000111325			25823	protein-coding gene	gene with protein product						12477932	Standard	NM_024623		Approved	FLJ13491, FLJ37501	uc001udz.1	Q6N063		ENST00000228922.7:c.908T>G	12.37:g.123463748T>G	ENSP00000228922:p.Leu303Arg					OGFOD2_ENST00000545317.1_Missense_Mutation_p.L139R|OGFOD2_ENST00000536150.1_Missense_Mutation_p.L139R|RP11-197N18.2_ENST00000540866.2_RNA|OGFOD2_ENST00000538628.1_Missense_Mutation_p.L139R|OGFOD2_ENST00000545612.1_Missense_Mutation_p.L139R|OGFOD2_ENST00000228922.7_Missense_Mutation_p.L303R|OGFOD2_ENST00000454694.2_Missense_Mutation_p.L139R|OGFOD2_ENST00000538755.1_Missense_Mutation_p.L139R|ABCB9_ENST00000542678.1_5'UTR	p.L243R	NM_024623.1	NP_078899.1	Q6N063	OGFD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	8	1467	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		303			Fe2OG dioxygenase.		B3KT24|Q4KN13|Q6N023|Q9H8K6	Missense_Mutation	SNP	ENST00000228922.7	37	c.728T>G		.	.	.	.	.	.	.	.	.	.	T	18.89	3.719043	0.68844	.	.	ENSG00000111325	ENST00000397389;ENST00000538755;ENST00000536150;ENST00000545056;ENST00000545612;ENST00000538628;ENST00000545317;ENST00000454694;ENST00000228922;ENST00000536439	D;T	0.92249	-3.0;0.59	5.14	5.14	0.70334	Oxoglutarate/iron-dependent oxygenase (1);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.96503	0.8859	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97305	0.9933	10	0.87932	D	0	-19.7674	14.9552	0.71107	0.0:0.0:0.0:1.0	.	303;243	Q6N063;Q6N063-2	OGFD2_HUMAN;.	R	243;139;139;139;139;139;139;139;303;139	ENSP00000380544:L243R;ENSP00000228922:L303R	ENSP00000228922:L303R	L	+	2	0	OGFOD2	122029701	1.000000	0.71417	0.878000	0.34440	0.319000	0.28217	8.040000	0.89188	1.938000	0.56188	0.379000	0.24179	CTT		0.672	OGFOD2-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000400984.1	NM_024623		25	76	0	0	0	1	0	25	76					G	123463748	T	G	123463748	3	3	150	1	0	0	0	0	1	0	0	0	10842	1609	56	5	750	5	OGFOD2	12	123463748	Missense_Mutation	SNP	T	TCGA-DJ-A3VL-01A-11D-A23M-08		123463748	10388147	8	3140											
CYP4F11	57834	broad.mit.edu	37	chr19	16024590	16024590	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccgcagccaaagtccaccCtctgcgcgcaatatcagctc	7	18	2	0			TCGA-DJ-A3VL-01A-11D-A23M-08	TCGA-DJ-A3VL-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d03960-71e2-415a-8527-b210e9f352d5	e0555f5b-ce59-4a73-af30-715b60087a4a	g.chr19:16024590C>T	ENST00000402119.4	-	12	1953	c.1527G>A	c.(1525-1527)gaG>gaA	p.E509E	CYP4F11_ENST00000248041.8_Silent_p.E509E|CYP4F11_ENST00000326742.8_3'UTR|CYP4F11_ENST00000591841.1_Silent_p.E184E	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						AAAGTCCACCCTCTGCGCGCA	0.602																																						ENST00000402119.3																			0				NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						c.(1525-1527)gaG>gaA		cytochrome P450, family 4, subfamily F, polypeptide 11							60	55	57					19																	16024590		2203	4300	6503	SO:0001819	synonymous_variant	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16024590C>T	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"Cytochrome P450s"	13265	protein-coding gene	gene with protein product		611517	"cytochrome P450, subfamily IVF, polypeptide 11"			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.1527G>A	19.37:g.16024590C>T						CYP4F11_ENST00000326742.7_3'UTR|CYP4F11_ENST00000248041.7_Silent_p.E509E	p.E509E	NM_021187.3	NP_067010.3	Q9HBI6	CP4FB_HUMAN			12	1953	-			509						Silent	SNP	ENST00000402119.4	37	c.1527G>A	CCDS12337.1																																																																																				0.602	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		4	38	0	0	0	1	0	4	38					T	16024590	C	T	16024590	2	4	150	1	0	0	0	0	0	0	0	1	4186	680	24	2		2	CYP4F11	19	16024590	Silent	SNP	C	TCGA-DJ-A3VL-01A-11D-A23M-08		16024590	43104393	9	3141											
ARFGAP1	55738	broad.mit.edu	37	chr20	61919073	61919073	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgtgcgcggacacctccaccGagaggaggagctcggacagc	15	14	0	1			TCGA-DJ-A3VL-01A-11D-A23M-08	TCGA-DJ-A3VL-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d03960-71e2-415a-8527-b210e9f352d5	e0555f5b-ce59-4a73-af30-715b60087a4a	g.chr20:61919073G>A	ENST00000370283.4	+	13	1209	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K	ARFGAP1_ENST00000518794.2_3'UTR|ARFGAP1_ENST00000353546.3_Missense_Mutation_p.E365K|ARFGAP1_ENST00000547204.1_Missense_Mutation_p.E291K|ARFGAP1_ENST00000519604.1_Missense_Mutation_p.E312K|MIR4326_ENST00000582203.1_RNA|ARFGAP1_ENST00000519273.2_Missense_Mutation_p.E244K|ARFGAP1_ENST00000370275.4_3'UTR	NM_018209.2	NP_060679.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	357					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPI coating of Golgi vesicle (GO:0048205)|endoplasmic reticulum unfolded protein response (GO:0030968)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cytosol (GO:0005829)|Golgi-associated vesicle membrane (GO:0030660)|synapse (GO:0045202)	ARF GTPase activator activity (GO:0008060)|GTPase activator activity (GO:0005096)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					CACCTCCACCGAGAGGAGGAG	0.662																																						ENST00000370283.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13						c.(1069-1071)Gag>Aag		ADP-ribosylation factor GTPase activating protein 1							26	27	27					20																	61919073		2191	4296	6487	SO:0001583	missense	55738				COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding	g.chr20:61919073G>A	AK001629	CCDS13515.1, CCDS13516.1, CCDS63326.1, CCDS63327.1, CCDS63328.1	20q13.33	2009-11-30	2002-08-20	2002-08-23	ENSG00000101199	ENSG00000101199		"ADP-ribosylation factor GTPase activating proteins"	15852	protein-coding gene	gene with protein product		608377	"ADP-ribosylation factor 1 GTPase activating protein"	ARF1GAP		11210549	Standard	NM_018209		Approved	FLJ10767, bA261N11.3	uc002yel.3	Q8N6T3	OTTHUMG00000032965	ENST00000370283.4:c.1069G>A	20.37:g.61919073G>A	ENSP00000359306:p.Glu357Lys					ARFGAP1_ENST00000370275.4_3'UTR|ARFGAP1_ENST00000518794.2_3'UTR|ARFGAP1_ENST00000519273.2_Missense_Mutation_p.E244K|ARFGAP1_ENST00000547204.1_Missense_Mutation_p.E291K|ARFGAP1_ENST00000353546.3_Missense_Mutation_p.E365K|ARFGAP1_ENST00000519604.1_Missense_Mutation_p.E312K	p.E357K	NM_018209.2	NP_060679.1	Q8N6T3	ARFG1_HUMAN			13	1209	+	all_cancers(38;1.59e-09)		357					B7Z3U0|B7Z8H8|B7ZBI3|E1P5I9|E7EV62|Q6PK71|Q96KC4|Q96T02|Q9NSU3|Q9NVF6|Q9UIL0	Missense_Mutation	SNP	ENST00000370283.4	37	c.1069G>A	CCDS13515.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.674871	0.67928	.	.	ENSG00000101199	ENST00000370283;ENST00000547204;ENST00000523460;ENST00000519604;ENST00000519273;ENST00000353546	T;T;T;T;T	0.46819	1.5;0.88;0.88;0.86;1.51	4.84	4.84	0.62591	.	0.282570	0.34906	N	0.003587	T	0.40522	0.1120	L	0.51422	1.61	0.48087	D	0.999584	P;P;P;D	0.55172	0.948;0.832;0.898;0.97	B;B;B;B	0.39503	0.301;0.234;0.116;0.294	T	0.36866	-0.9730	10	0.10902	T	0.67	-2.535	18.309	0.90192	0.0:0.0:1.0:0.0	.	244;312;357;365	B7Z8H8;E7EV62;Q8N6T3;Q8N6T3-2	.;.;ARFG1_HUMAN;.	K	357;291;113;312;244;365	ENSP00000359306:E357K;ENSP00000449800:E291K;ENSP00000430500:E312K;ENSP00000443716:E244K;ENSP00000314615:E365K	ENSP00000314615:E365K	E	+	1	0	ARFGAP1	61389518	1.000000	0.71417	0.007000	0.13788	0.196000	0.23810	4.694000	0.61760	2.378000	0.81104	0.462000	0.41574	GAG		0.662	ARFGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080134.3	NM_018209		3	20	0	0	0	1	0	3	20					A	61919073	G	A	61919073	3	1	150	1	0	0	0	0	1	0	0	0	849	1059	37	1	1149	1	ARFGAP1	20	61919073	Missense_Mutation	SNP	G	TCGA-DJ-A3VL-01A-11D-A23M-08		61919073	1106447	10	3142											
OFD1	8481	broad.mit.edu	37	chrX	13778509	13778509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttcagcaagaggccgaaCgcttggaaaaggctttcaga	12	9	2	2	rs185831378		TCGA-DJ-A3VL-01A-11D-A23M-08	TCGA-DJ-A3VL-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d03960-71e2-415a-8527-b210e9f352d5	e0555f5b-ce59-4a73-af30-715b60087a4a	g.chrX:13778509C>T	ENST00000340096.6	+	16	2257	c.1930C>T	c.(1930-1932)Cgc>Tgc	p.R644C	OFD1_ENST00000380550.3_Missense_Mutation_p.R604C|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380567.1_Missense_Mutation_p.R504C	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	644	Mediates homooligomerization.|Mediates the interaction with SDCCAG8.				axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AGAGGCCGAACGCTTGGAAAA	0.488													C|||	2	0.000529801	0	0	3775	,	,		13976	0.002		0	False		,,,				2504	0					ENST00000380567.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(1510-1512)Cgc>Tgc		oral-facial-digital syndrome 1							88	78	81					X																	13778509		2203	4300	6503	SO:0001583	missense	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13778509C>T	Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"retinitis pigmentosa 23 (X-linked recessive)"	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.1930C>T	X.37:g.13778509C>T	ENSP00000344314:p.Arg644Cys					OFD1_ENST00000340096.6_Missense_Mutation_p.R644C|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.R604C	p.R504C			O75665	OFD1_HUMAN			17	2382	+			644					B9ZVU5|O75666|Q4VAK4	Missense_Mutation	SNP	ENST00000340096.6	37	c.1510C>T	CCDS14157.1	2	0.0012055455093429777	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	.	6.507	0.461756	0.12342	.	.	ENSG00000046651	ENST00000380550;ENST00000340096;ENST00000380567	D;D;D	0.96041	-3.89;-3.89;-1.76	5.67	-1.53	0.08611	.	0.862572	0.10567	N	0.659534	D	0.89876	0.6842	L	0.43701	1.375	0.09310	N	1	B;B;B;B;B	0.21381	0.055;0.055;0.017;0.017;0.055	B;B;B;B;B	0.14578	0.011;0.011;0.011;0.003;0.011	T	0.78573	-0.2152	10	0.37606	T	0.19	-0.0645	2.928	0.05791	0.1128:0.3314:0.1094:0.4465	.	644;604;312;504;644	A8K2T9;O75665-3;B4DLQ3;A6NF31;O75665	.;.;.;.;OFD1_HUMAN	C	604;644;504	ENSP00000369923:R604C;ENSP00000344314:R644C;ENSP00000369941:R504C	ENSP00000344314:R644C	R	+	1	0	OFD1	13688430	0.002000	0.14202	0.002000	0.10522	0.402000	0.30811	0.409000	0.21082	-0.272000	0.09259	-1.375000	0.01183	CGC		0.488	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611		4	62	0	0	0	1	0	4	62					T	13778509	C	T	13778509	3	4	150	1	0	0	0	0	1	0	0	0	10838	536	19	1	1992	1	OFD1	23	13778509	Missense_Mutation	SNP	C	TCGA-DJ-A3VL-01A-11D-A23M-08		13778509	141492051	11	3143											
AIFM1	9131	broad.mit.edu	37	chrX	129267407	129267407	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccttcccaactttatatcGtagaagcatgcagcatctcc	5	14	1	1	rs143792929	byFrequency	TCGA-DJ-A3VL-01A-11D-A23M-08	TCGA-DJ-A3VL-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d03960-71e2-415a-8527-b210e9f352d5	e0555f5b-ce59-4a73-af30-715b60087a4a	g.chrX:129267407G>A	ENST00000287295.3	-	13	1559	c.1329C>T	c.(1327-1329)taC>taT	p.Y443Y	AIFM1_ENST00000346424.2_Silent_p.Y156Y|AIFM1_ENST00000319908.3_Silent_p.Y439Y|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000460436.2_Silent_p.Y104Y|AIFM1_ENST00000440263.1_Silent_p.Y91Y	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	443	FAD-dependent oxidoreductase. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	ACTTTATATCGTAGAAGCATG	0.408																																						ENST00000287295.3																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						c.(1327-1329)taC>taT		apoptosis-inducing factor, mitochondrion-associated, 1		A	,,,,	1,3834		0,1,0,1631,571	288	275	279		273,,1329,1317,468	-1.4	1.0	X	dbSNP_134	279	18,6710		0,12,6,2416,1866	no	coding-synonymous,utr-3,coding-synonymous,coding-synonymous,coding-synonymous	AIFM1	NM_001130846.2,NM_001130847.3,NM_004208.3,NM_145812.2,NM_145813.2	,,,,	0,13,6,4047,2437	AA,AG,A,GG,G		0.2675,0.0261,0.1799	,,,,	91/262,,443/614,439/610,156/327	129267407	19,10544	2203	4300	6503	SO:0001819	synonymous_variant	9131				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chrX:129267407G>A	AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"programmed cell death 8 (apoptosis-inducing factor)", "neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.1329C>T	X.37:g.129267407G>A						AIFM1_ENST00000460436.2_Silent_p.Y104Y|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000440263.1_Silent_p.Y91Y|AIFM1_ENST00000319908.3_Silent_p.Y439Y|AIFM1_ENST00000346424.2_Silent_p.Y156Y	p.Y443Y	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN			13	1559	-			443			FAD-dependent oxidoreductase (By similarity).		A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Silent	SNP	ENST00000287295.3	37	c.1329C>T	CCDS14618.1																																																																																				0.408	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2			10	251	0	0	0	1	0	10	251					A	129267407	G	A	129267407	2	1	150	1	0	0	0	0	0	0	0	1	426	1140	40	1		1	AIFM1	23	129267407	Silent	SNP	G	TCGA-DJ-A3VL-01A-11D-A23M-08	115488898	129267407	26003153	12	3144											
NUP133	55746	broad.mit.edu	37	chr1	229606430	229606430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgacaaggtcagaaagccggGagtggtggttcttgagaaca	15	6	2	3			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr1:229606430G>A	ENST00000261396.3	-	15	2064	c.1973C>T	c.(1972-1974)tCc>tTc	p.S658F	NUP133_ENST00000537506.1_Missense_Mutation_p.S642F	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	658					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 export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				AGAAAGCCGGGAGTGGTGGTT	0.502																																						ENST00000261396.3																			0				NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56						c.(1972-1974)tCc>tTc		nucleoporin 133kDa							107	101	103					1																	229606430		2203	4300	6503	SO:0001583	missense	55746				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr1:229606430G>A		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"nucleoporin 133kD"			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.1973C>T	1.37:g.229606430G>A	ENSP00000261396:p.Ser658Phe					NUP133_ENST00000537506.1_Missense_Mutation_p.S642F|NUP133_ENST00000366679.1_Missense_Mutation_p.S658F	p.S658F	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN			15	2064	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	658					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	ENST00000261396.3	37	c.1973C>T	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663929	0.67700	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.25085	1.83;1.82;1.84	5.56	4.64	0.57946	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.269628	0.45361	D	0.000370	T	0.32466	0.0830	M	0.62723	1.935	0.46396	D	0.999023	P	0.47762	0.9	P	0.45712	0.491	T	0.14090	-1.0485	10	0.66056	D	0.02	-17.3599	12.3858	0.55330	0.0:0.1285:0.7379:0.1336	.	658	Q8WUM0	NU133_HUMAN	F	658;658;658;642	ENSP00000261396:S658F;ENSP00000355640:S658F;ENSP00000443496:S642F	ENSP00000261396:S658F	S	-	2	0	NUP133	227673053	1.000000	0.71417	0.520000	0.27837	0.932000	0.56968	2.935000	0.48963	1.465000	0.48006	-0.176000	0.13171	TCC		0.502	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		17	129	0	0	0	1	0	17	129					A	229606430	G	A	229606430	3	1	151	1	0	0	0	0	1	0	0	0	10754	1174	41	2	1545	2	NUP133	1	229606430	Missense_Mutation	SNP	G	TCGA-DJ-A3VM-01A-11D-A23M-08		229606430	19644191	1	3145											
CNOT10	25904	broad.mit.edu	37	chr3	32778913	32778913	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctattttagcagtaaaagccAtgatggagataaattcattc	7	6	1	2	rs201889112		TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr3:32778913A>G	ENST00000328834.5	+	13	1842	c.1526A>G	c.(1525-1527)cAt>cGt	p.H509R	CNOT10_ENST00000331889.6_Intron|CNOT10_ENST00000454516.2_Missense_Mutation_p.H569R|CNOT10_ENST00000538368.1_Missense_Mutation_p.H281R|CNOT10-AS1_ENST00000475395.2_RNA	NM_015442.2	NP_056257.1	Q9H9A5	CNO10_HUMAN	CCR4-NOT transcription complex, subunit 10	509				H -> Y (in Ref. 1; BAB14108). {ECO:0000305}.	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)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						AGTAAAAGCCATGATGGAGAT	0.323													A|||	1	0.000199681	0	0	5008	,	,		19653	0		0.001	False		,,,				2504	0					ENST00000328834.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						c.(1525-1527)cAt>cGt		CCR4-NOT transcription complex, subunit 10							64	62	63					3																	32778913		2203	4300	6503	SO:0001583	missense	25904				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding	g.chr3:32778913A>G	BC002928	CCDS2655.1, CCDS58821.1, CCDS58822.1	3p23	2013-01-10			ENSG00000182973	ENSG00000182973		"Tetratricopeptide (TTC) repeat domain containing"	23817	protein-coding gene	gene with protein product							Standard	NR_046352		Approved	FLJ12890, FLJ13165	uc011axj.2	Q9H9A5	OTTHUMG00000130748	ENST00000328834.5:c.1526A>G	3.37:g.32778913A>G	ENSP00000330060:p.His509Arg					CNOT10_ENST00000454516.2_Missense_Mutation_p.H569R|CNOT10_ENST00000331889.6_Intron|CNOT10-AS1_ENST00000475395.2_RNA|CNOT10_ENST00000538368.1_Missense_Mutation_p.H281R	p.H509R	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN			13	1842	+			509	H -> Y (in Ref. 1; BAB14108).				B7Z7L1|F8WAF2|Q9BU30|Q9H5J7|Q9H8X1|Q9H9W0|Q9HAH3|Q9UFJ2	Missense_Mutation	SNP	ENST00000328834.5	37	c.1526A>G	CCDS2655.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	16.09	3.024334	0.54683	.	.	ENSG00000182973	ENST00000328834;ENST00000538368;ENST00000454516;ENST00000430408	T;T;T	0.41065	1.6;1.01;1.58	5.46	5.46	0.80206	.	0.047007	0.85682	D	0.000000	T	0.35799	0.0944	L	0.39898	1.24	0.58432	D	0.999998	B;B;B	0.24426	0.014;0.103;0.091	B;B;B	0.21917	0.006;0.037;0.024	T	0.10567	-1.0624	10	0.25106	T	0.35	-24.0666	15.5456	0.76097	1.0:0.0:0.0:0.0	.	569;508;509	F8WAF2;Q9H9A5-2;Q9H9A5	.;.;CNOTA_HUMAN	R	509;281;569;56	ENSP00000330060:H509R;ENSP00000442552:H281R;ENSP00000399862:H569R	ENSP00000330060:H509R	H	+	2	0	CNOT10	32753917	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.722000	0.74735	2.068000	0.61886	0.533000	0.62120	CAT		0.323	CNOT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253248.2	NM_015442		36	75	0	0	0	1	0	36	75					G	32778913	A	G	32778913	3	3	151	1	0	0	0	0	1	0	0	0	3618	217	8	3	1576	3	CNOT10	3	32778913	Missense_Mutation	SNP	A	TCGA-DJ-A3VM-01A-11D-A23M-08		32778913	165243517	2	3146											
SNRK	54861	broad.mit.edu	37	chr3	43345283	43345283	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gagtatgatgcacctgcagtAggtaggtaacctcggtccag	13	9	0	1			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr3:43345283A>T	ENST00000296088.7	+	3	892	c.588A>T	c.(586-588)gtA>gtT	p.V196V	SNRK_ENST00000462810.1_3'UTR|SNRK_ENST00000437827.1_Intron|SNRK_ENST00000429705.2_Splice_Site_p.V196V|SNRK_ENST00000454177.1_Splice_Site_p.V196V	NM_017719.4	NP_060189.3			SNF related kinase											breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		CACCTGCAGTAGGTAGGTAAC	0.423																																						ENST00000296088.7																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27						c.e3+1		SNF related kinase							96	90	92					3																	43345283		1880	4118	5998	SO:0001630	splice_region_variant	54861				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr3:43345283A>T	D43636	CCDS43075.1	3p22.1	2005-08-09			ENSG00000163788	ENSG00000163788			30598	protein-coding gene	gene with protein product		612760				8654423, 7788527	Standard	NM_017719		Approved	FLJ20224, HSNFRK, KIAA0096	uc003cmt.4	Q9NRH2	OTTHUMG00000156491	ENST00000296088.7:c.589+1A>T	3.37:g.43345283A>T						SNRK_ENST00000462810.1_3'UTR|SNRK_ENST00000454177.1_Splice_Site_p.V196_splice|SNRK_ENST00000429705.2_Splice_Site_p.V196_splice|SNRK_ENST00000437827.1_Intron	p.V196_splice	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)	3	892	+			196	V -> A (in Ref. 7; CAH18415).		Protein kinase.			Splice_Site	SNP	ENST00000296088.7	37	c.589_splice	CCDS43075.1																																																																																				0.423	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344325.1	NM_017719	Silent	51	91	0	0	0	1	0	51	91					T	43345283	A	T	43345283	5	4	151	1	0	0	0	0	0	0	1	0	14851	434	15	5	590	5	SNRK	3	43345283	Splice_Site	SNP	A	TCGA-DJ-A3VM-01A-11D-A23M-08	10566370	43345283	154677147	3	3147											
MYLK	4638	broad.mit.edu	37	chr3	123345769	123345769	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatggatgctgaaggcactGcgtgcagtccaggcggtttc	14	11	0	1			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr3:123345769G>A	ENST00000475616.1	-	28	5133	c.5134C>T	c.(5134-5136)Cag>Tag	p.Q1712*	MYLK_ENST00000360304.3_Nonsense_Mutation_p.Q1712*|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000346322.5_Nonsense_Mutation_p.Q1643*|MYLK_ENST00000418370.2_5'Flank|MYLK_ENST00000360772.3_Nonsense_Mutation_p.Q1661*|MYLK_ENST00000359169.1_Nonsense_Mutation_p.Q1661*|MYLK-AS1_ENST00000485162.1_RNA|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000354792.5_Nonsense_Mutation_p.Q512*			Q15746	MYLK_HUMAN	myosin light chain kinase	1712	Calmodulin-binding.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGAAGGCACTGCGTGCAGTCC	0.502																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(4981-4983)Cag>Tag		myosin light chain kinase							110	90	97					3																	123345769		2203	4300	6503	SO:0001587	stop_gained	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123345769G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.5134C>T	3.37:g.123345769G>A	ENSP00000418335:p.Gln1712*					MYLK_ENST00000346322.5_Nonsense_Mutation_p.Q1643*|MYLK_ENST00000359169.1_Nonsense_Mutation_p.Q1661*|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000360304.3_Nonsense_Mutation_p.Q1712*|MYLK_ENST00000354792.5_Nonsense_Mutation_p.Q512*|MYLK-AS1_ENST00000470449.1_RNA|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000475616.1_Nonsense_Mutation_p.Q1712*	p.Q1661*			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	31	5359	-		Lung NSC(201;0.0496)	1712			Protein kinase.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Nonsense_Mutation	SNP	ENST00000475616.1	37	c.4981C>T	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	47	13.148124	0.99723	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000354792;ENST00000475616	.	.	.	5.22	4.33	0.51752	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.7378	0.77859	0.0:0.1369:0.8631:0.0	.	.	.	.	X	1661;1712;1661;1643;512;1712	.	ENSP00000320622:Q1643X	Q	-	1	0	MYLK	124828459	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.300000	0.59079	1.408000	0.46895	0.591000	0.81541	CAG		0.502	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		6	72	0	0	0	1	0	6	72					A	123345769	G	A	123345769	4	1	151	1	0	0	0	0	0	1	0	0	10056	1328	46	2	626	2	MYLK	3	123345769	Nonsense_Mutation	SNP	G	TCGA-DJ-A3VM-01A-11D-A23M-08	80000486	123345769	74676661	4	3148											
KCNIP4	80333	broad.mit.edu	37	chr4	20751329	20751329	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtatcaaatgcattgaAcagaaaatgtgcatatgttg	9	5	2	2			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr4:20751329A>C	ENST00000382152.2	-	5	552	c.385T>G	c.(385-387)Ttc>Gtc	p.F129V	KCNIP4_ENST00000447367.2_Missense_Mutation_p.F95V|KCNIP4_ENST00000509207.1_Missense_Mutation_p.F67V|KCNIP4_ENST00000359001.5_Missense_Mutation_p.F67V|PACRGL_ENST00000507634.1_Intron|KCNIP4_ENST00000382150.4_Missense_Mutation_p.F108V|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000382148.3_Missense_Mutation_p.F104V	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	129	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				AATGCATTGAACAGAAAATGT	0.358																																						ENST00000382148.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(310-312)Ttc>Gtc		Kv channel interacting protein 4							114	105	108					4																	20751329		2203	4300	6503	SO:0001583	missense	80333					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity	g.chr4:20751329A>C	AF453244	CCDS3428.1, CCDS43215.1, CCDS43216.1, CCDS43217.1, CCDS47035.1	4p15.32	2013-01-10			ENSG00000185774	ENSG00000185774		"EF-hand domain containing"	30083	protein-coding gene	gene with protein product		608182				11805342, 11847232	Standard	XM_005248190		Approved	CALP, KCHIP4, MGC44947	uc003gqh.1	Q6PIL6	OTTHUMG00000128557	ENST00000382152.2:c.385T>G	4.37:g.20751329A>C	ENSP00000371587:p.Phe129Val					KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000359001.5_Missense_Mutation_p.F67V|PACRGL_ENST00000507634.1_Intron|KCNIP4_ENST00000509207.1_Missense_Mutation_p.F67V|KCNIP4_ENST00000447367.2_Missense_Mutation_p.F95V|KCNIP4_ENST00000382150.4_Missense_Mutation_p.F108V|KCNIP4_ENST00000382152.2_Missense_Mutation_p.F129V	p.F104V	NM_001035003.1	NP_001030175.1	Q6PIL6	KCIP4_HUMAN			4	646	-		Breast(46;0.134)	129			EF-hand 1; degenerate.		Q3YAB8|Q3YAB9|Q3YAC0|Q3YAC1|Q3YAC2|Q4W5G8|Q8NEU0|Q9BWT2|Q9H294|Q9H2A4	Missense_Mutation	SNP	ENST00000382152.2	37	c.310T>G	CCDS43216.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.693481	0.88735	.	.	ENSG00000185774	ENST00000382148;ENST00000447367;ENST00000382150;ENST00000413487;ENST00000382152;ENST00000509207;ENST00000359001	T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42	5.6	5.6	0.85130	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.65678	0.2714	M	0.93594	3.435	0.80722	D	1	D;D;D;D	0.69078	0.993;0.993;0.997;0.98	D;D;D;D	0.81914	0.987;0.987;0.995;0.985	T	0.75819	-0.3183	10	0.87932	D	0	.	14.7522	0.69533	1.0:0.0:0.0:0.0	.	104;108;112;129	Q3YAB9;Q3YAC0;Q3YAB7;Q6PIL6	.;.;.;KCIP4_HUMAN	V	104;95;108;67;129;67;67	ENSP00000371583:F104V;ENSP00000399080:F95V;ENSP00000371585:F108V;ENSP00000371587:F129V;ENSP00000423257:F67V;ENSP00000351892:F67V	ENSP00000351892:F67V	F	-	1	0	KCNIP4	20360427	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	8.881000	0.92415	2.119000	0.64992	0.477000	0.44152	TTC		0.358	KCNIP4-004	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360407.3	NM_025221		7	65	0	0	0	1	0	7	65					C	20751329	A	C	20751329	3	2	151	1	0	0	0	0	1	0	0	0	8042	43	2	5	387	5	KCNIP4	4	20751329	Missense_Mutation	SNP	A	TCGA-DJ-A3VM-01A-11D-A23M-08		20751329	170402947	5	3149											
GUCY1A3	2982	broad.mit.edu	37	chr4	156631708	156631708	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tttcaggagttccagtggagGttatcaaagaatctcttggt	11	6	3	1			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr4:156631708G>C	ENST00000296518.7	+	6	600	c.391G>C	c.(391-393)Gtt>Ctt	p.V131L	GUCY1A3_ENST00000506455.1_Missense_Mutation_p.V131L|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.V131L|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.V131L|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.V131L|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.V131L			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	131					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TCCAGTGGAGGTTATCAAAGA	0.373																																						ENST00000296518.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(391-393)Gtt>Ctt		guanylate cyclase 1, soluble, alpha 3							68	73	72					4																	156631708		2203	4300	6503	SO:0001583	missense	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156631708G>C		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.391G>C	4.37:g.156631708G>C	ENSP00000296518:p.Val131Leu					GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.V131L|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.V131L|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.V131L|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.V131L|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.V131L|GUCY1A3_ENST00000393832.3_5'UTR	p.V131L			Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	6	600	+	all_hematologic(180;0.24)	Renal(120;0.0854)	131	VIKESLGEEVFKICYEEDENILGVVGGTLKDFLNSFSTLLK QSSHCQEAGKRGR -> LSKNLLVKRFLKYVTRKMKTSLGW LEAPLKIFKQLQYPSETEQPLPRSRKKGQ (in Ref. 1).				D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	c.391G>C	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	G	4.406	0.075005	0.08485	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000296518;ENST00000513574	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0	5.38	-3.37	0.04898	Heme-NO binding (1);	1.565960	0.03620	N	0.236242	T	0.20047	0.0482	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.15484	0.013;0.013;0.013	T	0.11251	-1.0595	10	0.34782	T	0.22	.	2.7149	0.05185	0.3427:0.1981:0.3524:0.1067	.	131;131;131	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	L	131	ENSP00000424361:V131L;ENSP00000421493:V131L;ENSP00000426968:V131L;ENSP00000412201:V131L;ENSP00000296518:V131L;ENSP00000426040:V131L	ENSP00000296518:V131L	V	+	1	0	GUCY1A3	156851158	0.000000	0.05858	0.004000	0.12327	0.377000	0.30045	0.001000	0.13038	-0.393000	0.07739	-0.300000	0.09419	GTT		0.373	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			29	51	0	0	0	1	0	29	51					C	156631708	G	C	156631708	3	2	151	1	0	0	0	0	1	0	0	0	6894	1261	44	4	405	4	GUCY1A3	4	156631708	Missense_Mutation	SNP	G	TCGA-DJ-A3VM-01A-11D-A23M-08	135880379	156631708	34522568	6	3150											
NUP155	9631	broad.mit.edu	37	chr5	37299605	37299605	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatatagggtctgaataaccGgcacaatgaattattgcaag	9	6	1	2	rs149980171	byFrequency	TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr5:37299605G>A	ENST00000231498.3	-	31	3830	c.3627C>T	c.(3625-3627)gcC>gcT	p.A1209A	NUP155_ENST00000513532.1_Silent_p.A1145A|NUP155_ENST00000381843.2_Silent_p.A1150A|NUP155_ENST00000502533.1_5'UTR	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1209					atrial cardiac muscle cell action potential (GO:0086014)|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 export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGAATAACCGGCACAATGAA	0.378													G|||	2	0.000399361	0	0	5008	,	,		18577	0.002		0	False		,,,				2504	0					ENST00000231498.3																			0				endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62						c.(3625-3627)gcC>gcT		nucleoporin 155kDa		G	,	1,4405	2.1+/-5.4	0,1,2202	125	120	122		3450,3627	-3.9	1.0	5	dbSNP_134	122	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	NUP155	NM_004298.2,NM_153485.1	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	1150/1333,1209/1392	37299605	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37299605G>A	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"nucleoporin 155kD"			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.3627C>T	5.37:g.37299605G>A						NUP155_ENST00000381843.2_Silent_p.A1150A|NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000513532.1_Silent_p.A1145A	p.A1209A	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		31	3830	-	all_lung(31;0.000137)		1209					Q9UBE9|Q9UFL5	Silent	SNP	ENST00000231498.3	37	c.3627C>T	CCDS3921.1																																																																																				0.378	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		5	120	0	0	0	1	0	5	120					A	37299605	G	A	37299605	2	1	151	1	0	0	0	0	0	0	0	1	10756	1103	39	1		1	NUP155	5	37299605	Silent	SNP	G	TCGA-DJ-A3VM-01A-11D-A23M-08		37299605	143615655	7	3151											
TBRG4	9238	broad.mit.edu	37	chr7	45148648	45148648	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctctatgtagggagtagaTgctcgttccttctccaccgg	10	11	2	1			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr7:45148648T>C	ENST00000258770.3	-	2	310	c.189A>G	c.(187-189)gcA>gcG	p.A63A	TBRG4_ENST00000361278.3_Silent_p.A63A|TBRG4_ENST00000494076.1_Silent_p.A63A|SNORA5B_ENST00000363786.1_RNA|TBRG4_ENST00000395655.4_Silent_p.A63A|TBRG4_ENST00000471142.1_5'UTR	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	63					cell cycle arrest (GO:0007050)|cellular respiration (GO:0045333)|positive regulation of cell proliferation (GO:0008284)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						AGGGAGTAGATGCTCGTTCCT	0.562																																						ENST00000258770.3																			0				cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						c.(187-189)gcA>gcG		transforming growth factor beta regulator 4							140	124	129					7																	45148648		2203	4300	6503	SO:0001819	synonymous_variant	9238				apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity	g.chr7:45148648T>C	AB023165	CCDS5501.1, CCDS5502.1	7p13	2006-07-07			ENSG00000136270	ENSG00000136270			17443	protein-coding gene	gene with protein product	"FAST kinase domains 4", "cell cycle progression 2 protein"	611325				9383053	Standard	NM_004749		Approved	Cpr2, KIAA0948, H_TD2522F11.8, FASTKD4	uc011kcd.3	Q969Z0	OTTHUMG00000129247	ENST00000258770.3:c.189A>G	7.37:g.45148648T>C						TBRG4_ENST00000471142.1_5'UTR|TBRG4_ENST00000395655.4_Silent_p.A63A|TBRG4_ENST00000494076.1_Silent_p.A63A|TBRG4_ENST00000361278.3_Silent_p.A63A	p.A63A	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN			2	310	-			63					A4D2L2|A4D2L3|D3DVL5|D3DVL6|O14710|Q53GI8|Q8NDM4|Q9BUC6|Q9Y2F6	Silent	SNP	ENST00000258770.3	37	c.189A>G	CCDS5501.1																																																																																				0.562	TBRG4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251351.1	NM_030900		5	136	0	0	0	1	0	5	136					C	45148648	T	C	45148648	2	2	151	1	0	0	0	0	0	0	0	1	15646	1451	51	3		3	TBRG4	7	45148648	Silent	SNP	T	TCGA-DJ-A3VM-01A-11D-A23M-08		45148648	113990015	8	3152											
PSPH	5723	broad.mit.edu	37	chr7	56079524	56079524	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggcgttatccttgacttgTtgcctgatcacatttcctcc	7	12	1	2			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr7:56079524T>C	ENST00000395471.3	-	8	1414	c.609A>G	c.(607-609)caA>caG	p.Q203Q	PSPH_ENST00000275605.3_Silent_p.Q203Q|PSPH_ENST00000459834.1_5'UTR			P78330	SERB_HUMAN	phosphoserine phosphatase	203					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CCTTGACTTGTTGCCTGATCA	0.348																																						ENST00000395471.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11						c.(607-609)caA>caG		phosphoserine phosphatase							100	87	91					7																	56079524		2203	4298	6501	SO:0001819	synonymous_variant	5723				L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity	g.chr7:56079524T>C	Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.609A>G	7.37:g.56079524T>C						PSPH_ENST00000275605.3_Silent_p.Q203Q|PSPH_ENST00000459834.1_5'UTR	p.Q203Q			P78330	SERB_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		8	1414	-	Breast(14;0.214)		203					B2RCR5|Q7Z3S5	Silent	SNP	ENST00000395471.3	37	c.609A>G	CCDS5522.1																																																																																				0.348	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343304.1	NM_004577		11	170	0	0	0	1	0	11	170					C	56079524	T	C	56079524	2	2	151	1	0	0	0	0	0	0	0	1	12717	1722	60	3		3	PSPH	7	56079524	Silent	SNP	T	TCGA-DJ-A3VM-01A-11D-A23M-08	10930876	56079524	103059139	9	3153											
MOGAT3	346606	broad.mit.edu	37	chr7	100841499	100841499	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcagcgccaggcgcacgaagCctttgcgcttctggagcgta	13	13	2	0	rs370137222		TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr7:100841499C>G	ENST00000223114.4	-	5	807	c.641G>C	c.(640-642)gGc>gCc	p.G214A	MOGAT3_ENST00000440203.2_Missense_Mutation_p.G214A|MOGAT3_ENST00000379423.3_Missense_Mutation_p.G214A	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	214					glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					GCGCACGAAGCCTTTGCGCTT	0.647																																						ENST00000223114.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22						c.(640-642)gGc>gCc		monoacylglycerol O-acyltransferase 3		C	ALA/GLY	0,4406		0,0,2203	44	45	45		641	5.2	1.0	7		45	2,8598		0,2,4298	no	missense	MOGAT3	NM_178176.2	60	0,2,6501	GG,GC,CC		0.0233,0.0,0.0154	probably-damaging	214/342	100841499	2,13004	2203	4300	6503	SO:0001583	missense	346606				glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity	g.chr7:100841499C>G	AY229854	CCDS5714.1, CCDS75643.1	7q22	2012-09-06			ENSG00000106384	ENSG00000106384	2.3.1.20, 2.3.1.22		23249	protein-coding gene	gene with protein product		610184				12618427, 14970677	Standard	XM_005250309		Approved	DC7, MGAT3	uc003uyc.3	Q86VF5	OTTHUMG00000023328	ENST00000223114.4:c.641G>C	7.37:g.100841499C>G	ENSP00000223114:p.Gly214Ala					MOGAT3_ENST00000440203.2_Missense_Mutation_p.G214A|MOGAT3_ENST00000379423.3_Missense_Mutation_p.G214A	p.G214A	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN			5	807	-	Lung NSC(181;0.168)|all_lung(186;0.215)		214					Q496A6|Q496A7|Q496A8|Q9UDW7	Missense_Mutation	SNP	ENST00000223114.4	37	c.641G>C	CCDS5714.1	.	.	.	.	.	.	.	.	.	.	.	21.3	4.133219	0.77662	0.0	2.33E-4	ENSG00000106384	ENST00000223114;ENST00000440203;ENST00000379423	T;T;T	0.36699	1.24;1.24;1.24	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.73837	0.3638	H	0.97440	4.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.84070	0.0379	10	0.87932	D	0	-30.5891	16.123	0.81375	0.0:1.0:0.0:0.0	.	214;214	Q86VF5-2;Q86VF5	.;MOGT3_HUMAN	A	214	ENSP00000223114:G214A;ENSP00000403756:G214A;ENSP00000368734:G214A	ENSP00000223114:G214A	G	-	2	0	MOGAT3	100628219	1.000000	0.71417	0.980000	0.43619	0.440000	0.31957	4.469000	0.60169	2.412000	0.81896	0.561000	0.74099	GGC		0.647	MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059649.3	NM_178176		35	47	0	0	0	1	0	35	47					G	100841499	C	G	100841499	3	3	151	1	0	0	0	0	1	0	0	0	9696	739	26	4	396	4	MOGAT3	7	100841499	Missense_Mutation	SNP	C	TCGA-DJ-A3VM-01A-11D-A23M-08	44761975	100841499	58297164	10	3154											
CPA2	1358	broad.mit.edu	37	chr7	129906739	129906739	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccatggccatgaggttgatCctgttttttggtgccctttt	10	10	0	2			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr7:129906739C>T	ENST00000222481.4	+	1	73	c.18C>T	c.(16-18)atC>atT	p.I6I		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	6					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					TGAGGTTGATCCTGTTTTTTG	0.443																																						ENST00000222481.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(16-18)atC>atT		carboxypeptidase A2 (pancreatic)							238	214	222					7																	129906739		2203	4300	6503	SO:0001819	synonymous_variant	1358				proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129906739C>T	U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.18C>T	7.37:g.129906739C>T							p.I6I	NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN			1	73	+	Melanoma(18;0.0435)		6					A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Silent	SNP	ENST00000222481.4	37	c.18C>T	CCDS5817.2																																																																																				0.443	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347124.2	NM_001869		76	122	0	0	0	1	0	76	122					T	129906739	C	T	129906739	2	4	151	1	0	0	0	0	0	0	0	1	3790	845	30	2		2	CPA2	7	129906739	Silent	SNP	C	TCGA-DJ-A3VM-01A-11D-A23M-08	29065240	129906739	29231924	11	3155											
TG	7038	broad.mit.edu	37	chr8	133883768	133883768	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gaggggatggaggtgtatggGacccgccagctggggaggcc	21	8	0	0			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr8:133883768G>T	ENST00000220616.4	+	4	490	c.450G>T	c.(448-450)ggG>ggT	p.G150G	TG_ENST00000377869.1_Silent_p.G150G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	150	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGGTGTATGGGACCCGCCAGC	0.607																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(448-450)ggG>ggT		thyroglobulin							104	76	86					8																	133883768		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133883768G>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.450G>T	8.37:g.133883768G>T						TG_ENST00000377869.1_Silent_p.G150G	p.G150G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	4	490	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	150			Thyroglobulin type-1 2.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.450G>T	CCDS34944.1																																																																																				0.607	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		17	37	1	0	1.45105e-14	1	1.53167e-14	17	37					T	133883768	G	T	133883768	2	4	151	1	0	0	0	0	0	0	0	1	15810	1161	41	4		4	TG	8	133883768	Silent	SNP	G	TCGA-DJ-A3VM-01A-11D-A23M-08		133883768	12480254	12	3156											
XPA	7507	broad.mit.edu	37	chr9	100455962	100455964	+	In_Frame_Del	DEL	TTC	TTC	-													acaacttttccaattttctgTtcttcttcttcttcctcttc					rs3176652		TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr9:100455962_100455964delTTC	ENST00000375128.4	-	2	314_316	c.250_252delGAA	c.(250-252)gaadel	p.E84del		NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	84	Interaction with CEP164 and required for UV resistance.|Poly-Glu.				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)|nucleotide-excision repair, DNA damage removal (GO:0000718)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)	p.E84*(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				CAATTTTCTGTTCTTCTTCTTCT	0.34			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000375128.4			yes	Rec		Xeroderma pigmentosum (A)	9	9q22.3	7507	"Mis, N, F, S"	"xeroderma pigmentosum, complementation group A"			E		"skin basal cell, skin squamous cell, melanoma"			1	Substitution - Nonsense(1)	p.E84*(1)	large_intestine(1)	breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11						c.(250-252)del	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group A				171,4093		81,9,2042						3.6	0.0		dbSNP_105	102	360,7892		176,8,3942	no	coding	XPA	NM_000380.3		257,17,5984	A1A1,A1R,RR		4.3626,4.0103,4.2426				531,11985				SO:0001651	inframe_deletion	7507	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity	g.chr9:100455962_100455964delTTC	D14533	CCDS6729.1	9q22.3	2014-09-17			ENSG00000136936	ENSG00000136936			12814	protein-coding gene	gene with protein product		611153					Standard	NM_000380		Approved	XPAC, XP1	uc004axr.4	P23025	OTTHUMG00000020330	ENST00000375128.4:c.250_252delGAA	9.37:g.100455971_100455973delTTC	ENSP00000364270:p.Glu84del						p.E84del	NM_000380.3	NP_000371.1	P23025	XPA_HUMAN			2	314_316	-		Acute lymphoblastic leukemia(62;0.158)	84			Interaction with CEP164 and required for UV resistance.|Poly-Glu.		Q5T1U9|Q6LCW7|Q6LD02	In_Frame_Del	DEL	ENST00000375128.4	37	c.250_252delGAA	CCDS6729.1																																																																																				0.34	XPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053332.1	NM_000380		7	123						7	123	---	---	---	---	-	100455964	TTC	-	100455962	7	5	151	1	0	1	0	1	0	0	0	0	17437	1722	60	0	589	0	XPA	9	100455962	In_Frame_Del	DEL	TTC	TCGA-DJ-A3VM-01A-11D-A23M-08		100455962	40757469	13	3157											
NTNG2	84628	broad.mit.edu	37	chr9	135073480	135073480	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagagcatcacctggagccGctaccccagcccgctggaag	12	16	1	1			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr9:135073480G>T	ENST00000393229.3	+	3	1117	c.341G>T	c.(340-342)cGc>cTc	p.R114L	NTNG2_ENST00000372179.3_Missense_Mutation_p.R114L|NTNG2_ENST00000393228.4_Missense_Mutation_p.R114L|NTNG2_ENST00000360670.3_Missense_Mutation_p.R114L	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	114	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		ACCTGGAGCCGCTACCCCAGC	0.652																																						ENST00000393229.3																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(340-342)cGc>cTc		netrin G2							78	69	72					9																	135073480		2203	4300	6503	SO:0001583	missense	84628				axonogenesis	anchored to plasma membrane		g.chr9:135073480G>T	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"Netrins"	14288	protein-coding gene	gene with protein product	"Netrin-G2"		"netrin G1"	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.341G>T	9.37:g.135073480G>T	ENSP00000376921:p.Arg114Leu					NTNG2_ENST00000360670.3_Missense_Mutation_p.R114L|NTNG2_ENST00000393228.4_Missense_Mutation_p.R114L|NTNG2_ENST00000372179.3_Missense_Mutation_p.R114L	p.R114L	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	3	1117	+			114			Laminin N-terminal.		Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	ENST00000393229.3	37	c.341G>T	CCDS6946.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852423	0.91355	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	5.13	5.13	0.70059	Laminin, N-terminal (3);	0.000000	0.64402	D	0.000001	D	0.83036	0.5167	M	0.69823	2.125	0.58432	D	0.999998	D	0.60575	0.988	P	0.57960	0.83	D	0.83641	0.0150	10	0.45353	T	0.12	.	17.567	0.87922	0.0:0.0:1.0:0.0	.	114	Q96CW9	NTNG2_HUMAN	L	114	ENSP00000376921:R114L;ENSP00000376920:R114L;ENSP00000353888:R114L;ENSP00000361252:R114L	ENSP00000353888:R114L	R	+	2	0	NTNG2	134063301	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.696000	0.74598	2.381000	0.81170	0.561000	0.74099	CGC		0.652	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		29	52	1	0	3.11337e-16	1	3.38024e-16	29	52					T	135073480	G	T	135073480	3	4	151	1	0	0	0	0	1	0	0	0	10705	1087	38	4	347	4	NTNG2	9	135073480	Missense_Mutation	SNP	G	TCGA-DJ-A3VM-01A-11D-A23M-08	34617518	135073480	6139951	14	3158											
LRRK2	120892	broad.mit.edu	37	chr12	40716160	40716160	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agttgtggaccacattgattCtctcatggaagaatggtttc	10	7	2	2			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr12:40716160C>G	ENST00000298910.7	+	37	5415	c.5357C>G	c.(5356-5358)tCt>tGt	p.S1786C		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1786					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)	p.S1749F(1)|p.S1786F(1)		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)				CACATTGATTCTCTCATGGAA	0.398																																						ENST00000298910.7																			2	Substitution - Missense(2)	p.S1749F(1)|p.S1786F(1)	ovary(2)	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.(5356-5358)tCt>tGt		leucine-rich repeat kinase 2							247	232	237					12																	40716160		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.chr12:40716160C>G	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.5357C>G	12.37:g.40716160C>G	ENSP00000298910:p.Ser1786Cys						p.S1786C	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			37	5415	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1786					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.5357C>G	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.632962	0.87660	.	.	ENSG00000188906	ENST00000298910	T	0.75154	-0.91	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.83871	0.5348	L	0.50333	1.59	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.988	D	0.84215	0.0458	10	0.59425	D	0.04	.	19.5666	0.95395	0.0:1.0:0.0:0.0	.	1786;1786	Q17RV3;Q5S007	.;LRRK2_HUMAN	C	1786	ENSP00000298910:S1786C	ENSP00000298910:S1786C	S	+	2	0	LRRK2	39002427	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.213000	0.77950	2.602000	0.87976	0.650000	0.86243	TCT		0.398	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		149	253	0	0	0	1	0	149	253					G	40716160	C	G	40716160	3	3	151	1	0	0	0	0	1	0	0	0	9033	913	32	4	5503	4	LRRK2	12	40716160	Missense_Mutation	SNP	C	TCGA-DJ-A3VM-01A-11D-A23M-08		40716160	93135735	15	3159											
HERC1	8925	broad.mit.edu	37	chr15	63937682	63937682	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgcaaattgacaacatacGtagccatcagtaactgcaac	7	10	1	1			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr15:63937682G>A	ENST00000443617.2	-	56	11165	c.11078C>T	c.(11077-11079)aCt>aTt	p.T3693I		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3693					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GACAACATACGTAGCCATCAG	0.403																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.e56+1		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							55	53	54					15																	63937682		1936	4152	6088	SO:0001630	splice_region_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63937682G>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.11078+1C>T	15.37:g.63937682G>A							p.T3693_splice	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			56	11165	-			3693					Q8IW65	Splice_Site	SNP	ENST00000443617.2	37	c.11078_splice	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.400440	0.42613	.	.	ENSG00000103657	ENST00000443617	T	0.67698	-0.28	5.92	5.01	0.66863	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.140030	0.47455	D	0.000238	T	0.53400	0.1794	N	0.24115	0.695	0.58432	D	0.999999	B	0.09022	0.002	B	0.01281	0.0	T	0.46345	-0.9198	9	.	.	.	.	17.312	0.87212	0.0:0.1252:0.8748:0.0	.	3693	Q15751	HERC1_HUMAN	I	3693	ENSP00000390158:T3693I	.	T	-	2	0	HERC1	61724735	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.119000	0.50422	1.497000	0.48584	0.650000	0.86243	ACT		0.403	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922	Missense_Mutation	3	42	0	0	0	1	0	3	42					A	63937682	G	A	63937682	5	1	151	1	0	0	0	0	0	0	1	0	7057	1159	40	1	3599	1	HERC1	15	63937682	Splice_Site	SNP	G	TCGA-DJ-A3VM-01A-11D-A23M-08		63937682	38593710	16	3160											
C17orf68	80169	broad.mit.edu	37	chr17	8141916	8141916	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcagcatgggagacgctGgtgagtcttgaggtcctgta	16	8	1	3			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr17:8141916G>A	ENST00000315684.8	-	3	236	c.229C>T	c.(229-231)Cag>Tag	p.Q77*	CTC1_ENST00000581671.1_5'UTR	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	77					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GGGAGACGCTGGTGAGTCTTG	0.592																																						ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(229-231)Cag>Tag		CTS telomere maintenance complex component 1							74	75	75					17																	8141916		2056	4211	6267	SO:0001587	stop_gained	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8141916G>A	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"conserved telomere maintenance component 1", "alpha accessory factor 132", "conserved telomere capping protein 1"	613129	"tmp494178", "chromosome 17 open reading frame 68"	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.229C>T	17.37:g.8141916G>A	ENSP00000313759:p.Gln77*					CTC1_ENST00000581671.1_5'UTR	p.Q77*	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN			3	236	-			77					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Nonsense_Mutation	SNP	ENST00000315684.8	37	c.229C>T	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534645	0.64972	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	.	.	.	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.683	15.8634	0.79043	0.0:0.0:1.0:0.0	.	.	.	.	X	77	.	ENSP00000313759:Q77X	Q	-	1	0	CTC1	8082641	1.000000	0.71417	0.950000	0.38849	0.680000	0.39746	5.737000	0.68606	2.826000	0.97356	0.561000	0.74099	CAG		0.592	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		70	84	0	0	0	1	0	70	84					A	8141916	G	A	8141916	4	1	151	1	0	0	0	0	0	1	0	0	1876	1357	47	2	3508	2	C17orf68	17	8141916	Nonsense_Mutation	SNP	G	TCGA-DJ-A3VM-01A-11D-A23M-08		8141916	73053294	17	3161											
ATP9B	374868	broad.mit.edu	37	chr18	76936903	76936904	+	Frame_Shift_Del	DEL	TG	TG	-													cacgcaacagctgccggctcTgggggtgagcagcaccaaga					rs201854663	byFrequency	TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr18:76936903_76936904delTG	ENST00000426216.2	+	8	886_887	c.869_870delTG	c.(868-870)ctgfs	p.L290fs	ATP9B_ENST00000307671.7_Frame_Shift_Del_p.L290fs	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	290					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CTGCCGGCTCTGGGGGTGAGCA	0.441																																						ENST00000426216.2																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38						c.(868-870)cfs		ATPase, class II, type 9B																																				SO:0001589	frameshift_variant	374868				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:76936903_76936904delTG	R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"ATPases / P-type"	13541	protein-coding gene	gene with protein product		614446	"ATPase, Class II, type 9B"			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.869_870delTG	18.37:g.76936903_76936904delTG	ENSP00000398076:p.Leu290fs					ATP9B_ENST00000307671.7_Frame_Shift_Del_p.L290fs	p.L290fs	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)	8	886_887	+		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)	290					O60872|Q08AD8|Q08AD9	Frame_Shift_Del	DEL	ENST00000426216.2	37	c.869_870delTG	CCDS12014.1																																																																																				0.441	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		51	102						51	102	---	---	---	---	-	76936904	TG	-	76936903	7	5	151	1	0	1	0	1	0	0	0	0	1199	1580	55	0	899	0	ATP9B	18	76936903	Frame_Shift_Del	DEL	TG	TCGA-DJ-A3VM-01A-11D-A23M-08		76936903	1140345	18	3162											
EIF3G	5032	broad.mit.edu	37	chr19	10225802	10225802	+	3'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctggcttagttggtggaCggcctggggtaggggagggt	21	6	0	0	rs199502040		TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr19:10225802C>T	ENST00000321826.4	+	0	1697				EIF3G_ENST00000253108.4_Silent_p.P317P	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11						activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			AGTTGGTGGACGGCCTGGGGT	0.637													C|||	0	0	0	0	5008	,	,		11600	0		0	False		,,,				2504	0					ENST00000253108.4																			0				central_nervous_system(1)|lung(1)	2						c.(949-951)ccG>ccA		eukaryotic translation initiation factor 3, subunit G		C	,,,	1,4405		0,1,2202	48	52	51		,,,951	-0.9	1.0	19		51	0,8600		0,0,4300	no	utr-3,utr-3,utr-3,coding-synonymous	P2RY11,EIF3G,PPAN-P2RY11	NM_001040664.2,NM_001198690.1,NM_002566.4,NM_003755.3	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	,,,317/321	10225802	1,13005	2203	4300	6503	SO:0001624	3_prime_UTR_variant	8666					cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity	g.chr19:10225802C>T	AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166	ENST00000321826.4:c.*388C>T	19.37:g.10225802C>T						P2RY11_ENST00000321826.4_3'UTR	p.P317P	NM_003755.3	NP_003746.2	O75821	EIF3G_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)		11	993	-			317			RRM.		B2R8X9|O43190|Q9BYU4|Q9H170	Silent	SNP	ENST00000321826.4	37	c.951G>A	CCDS12226.1																																																																																				0.637	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	NM_002566		13	17	0	0	0	1	0	13	17					T	10225802	C	T	10225802	1	4	151	0	1	0	0	0	0	0	0	0	5017	523	19	1		1	EIF3G	19	10225802	3'UTR	SNP	C	TCGA-DJ-A3VM-01A-11D-A23M-08		10225802	48903181	19	3163											
MMP24	10893	broad.mit.edu	37	chr20	33834779	33834779	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaccggtgtgttggatcAgacaacgatcgagtaagatt	13	7	2	2			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr20:33834779A>C	ENST00000246186.6	+	2	468	c.383A>C	c.(382-384)cAg>cCg	p.Q128P	EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000433764.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	128					cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	GTGTTGGATCAGACAACGATC	0.522																																						ENST00000246186.6																			0				NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14						c.(382-384)cAg>cCg		matrix metallopeptidase 24 (membrane-inserted)							107	104	105					20																	33834779		2041	4186	6227	SO:0001583	missense	10893				proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr20:33834779A>C	AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"membrane-type 5 matrix metalloproteinase"	604871	"matrix metalloproteinase 24 (membrane-inserted)"			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.383A>C	20.37:g.33834779A>C	ENSP00000246186:p.Gln128Pro					EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000566203.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000433764.1_RNA	p.Q128P	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		2	468	+			128					B7ZBG8|Q9H440	Missense_Mutation	SNP	ENST00000246186.6	37	c.383A>C	CCDS46593.1	.	.	.	.	.	.	.	.	.	.	A	11.52	1.663438	0.29515	.	.	ENSG00000125966	ENST00000246186;ENST00000540655	T	0.31247	1.5	5.5	5.5	0.81552	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.128774	0.53938	D	0.000048	T	0.19167	0.0460	N	0.10782	0.045	0.52099	D	0.99994	B	0.02656	0.0	B	0.11329	0.006	T	0.04737	-1.0930	10	0.35671	T	0.21	.	14.9427	0.71006	1.0:0.0:0.0:0.0	.	128	Q9Y5R2	MMP24_HUMAN	P	128;76	ENSP00000246186:Q128P	ENSP00000246186:Q128P	Q	+	2	0	MMP24	33298195	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.230000	0.78097	2.310000	0.77875	0.450000	0.29827	CAG		0.522	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078851.4	NM_006690		7	107	0	0	0	1	0	7	107					C	33834779	A	C	33834779	3	2	151	1	0	0	0	0	1	0	0	0	9661	188	7	5	139	5	MMP24	20	33834779	Missense_Mutation	SNP	A	TCGA-DJ-A3VM-01A-11D-A23M-08		33834779	29190741	20	3164											
CBR3	874	broad.mit.edu	37	chr21	37510175	37510175	+	Frame_Shift_Del	DEL	T	T	-													gagatgacactgaagacaaaTttttttgccactagaaacat							TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr21:37510175delT	ENST00000290354.5	+	2	623	c.342delT	c.(340-342)aatfs	p.N114fs	CBR3-AS1_ENST00000608632.1_RNA|CBR3-AS1_ENST00000608641.1_RNA|CBR3-AS1_ENST00000608622.1_RNA|CBR3-AS1_ENST00000453159.1_RNA|CBR3-AS1_ENST00000608690.1_RNA|CBR3-AS1_ENST00000413862.1_RNA	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN	carbonyl reductase 3	114					cognition (GO:0050890)|phylloquinone catabolic process (GO:0042376)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	3-keto sterol reductase activity (GO:0000253)|carbonyl reductase (NADPH) activity (GO:0004090)|NADPH binding (GO:0070402)			kidney(1)|large_intestine(1)|lung(1)	3					Doxorubicin(DB00997)	TGAAGACAAATTTTTTTGCCA	0.408																																						ENST00000290354.5																			0				kidney(1)|large_intestine(1)|lung(1)	3						c.(340-342)aafs		carbonyl reductase 3							158	149	152					21																	37510175		2203	4300	6503	SO:0001589	frameshift_variant	874					cytosol|nucleus	carbonyl reductase (NADPH) activity|NADPH binding	g.chr21:37510175delT	AB004854	CCDS13642.1	21q22.2	2011-09-14			ENSG00000159231	ENSG00000159231	1.1.1.184	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	1549	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 21C, member 2"	603608				9740676, 19027726	Standard	NM_001236		Approved	SDR21C2	uc002yve.3	O75828	OTTHUMG00000086617	ENST00000290354.5:c.342delT	21.37:g.37510175delT	ENSP00000290354:p.Asn114fs					CBR3-AS1_ENST00000453159.1_RNA|CBR3-AS1_ENST00000413862.1_RNA	p.N114fs	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN			2	623	+			114					Q6FHP2	Frame_Shift_Del	DEL	ENST00000290354.5	37	c.342delT	CCDS13642.1																																																																																				0.408	CBR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194632.1			10	252						10	252	---	---	---	---	-	37510175	T	-	37510175	7	5	151	1	0	1	0	1	0	0	0	0	2709	1490	52	0	348	0	CBR3	21	37510175	Frame_Shift_Del	DEL	T	TCGA-DJ-A3VM-01A-11D-A23M-08		37510175	10619720	21	3165											
MCCD1	401250	broad.mit.edu	37	chr6	31496941	31496941	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accagctccagaggaaatggGaagatgacgtcccctcccag	11	13	0	3			TCGA-DJ-A4UL-01A-11D-A257-08	TCGA-DJ-A4UL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f10660a-2465-42ed-a2a9-206fbf06bc3f	008c8709-0bc8-4d3c-8792-abc47b447fac	g.chr6:31496941G>A	ENST00000376191.2	+	1	448	c.150G>A	c.(148-150)ggG>ggA	p.G50G	DDX39B_ENST00000462421.1_5'Flank	NM_001011700.2	NP_001011700.2	P59942	MCCD1_HUMAN	mitochondrial coiled-coil domain 1	50						mitochondrion (GO:0005739)				skin(1)	1						GAGGAAATGGGAAGATGACGT	0.562																																						ENST00000376191.2																			0				skin(1)	1						c.(148-150)ggG>ggA		mitochondrial coiled-coil domain 1							98	87	91					6																	31496941		1510	2709	4219	SO:0001819	synonymous_variant	401250					mitochondrion		g.chr6:31496941G>A		CCDS34396.1	6p21.3	2003-10-17				ENSG00000204511			20668	protein-coding gene	gene with protein product		609624				14527716	Standard	NM_001011700		Approved		uc003ntp.1	P59942		ENST00000376191.2:c.150G>A	6.37:g.31496941G>A							p.G50G	NM_001011700.2	NP_001011700.2	P59942	MCCD1_HUMAN			1	448	+			50					A2AB29|A2RUP7|B0UZB2|Q7RTY2	Silent	SNP	ENST00000376191.2	37	c.150G>A	CCDS34396.1																																																																																				0.562	MCCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259099.1			30	39	0	0	0	1	0	30	39					A	31496941	G	A	31496941	2	1	152	1	0	0	0	0	0	0	0	1	9376	1161	41	2		2	MCCD1	6	31496941	Silent	SNP	G	TCGA-DJ-A4UL-01A-11D-A257-08		31496941	139618126	1	3166											
TBP	6908	broad.mit.edu	37	chr6	170871094	170871094	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaGcagcagcagcaacaggcagt	13	13	0	0			TCGA-DJ-A4UL-01A-11D-A257-08	TCGA-DJ-A4UL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f10660a-2465-42ed-a2a9-206fbf06bc3f	008c8709-0bc8-4d3c-8792-abc47b447fac	g.chr6:170871094G>A	ENST00000392092.2	+	3	549	c.270G>A	c.(268-270)caG>caA	p.Q90Q	TBP_ENST00000230354.6_Silent_p.Q90Q|TBP_ENST00000540980.1_Silent_p.Q70Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	90	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	0.622																																						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.(268-270)caG>caA		TATA box binding protein							22	28	26					6																	170871094		1899	3721	5620	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.chr6:170871094G>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.270G>A	6.37:g.170871094G>A						TBP_ENST00000540980.1_Silent_p.Q70Q|TBP_ENST00000230354.6_Silent_p.Q90Q	p.Q90Q	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	549	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	90			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.270G>A	CCDS5315.1																																																																																				0.622	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		4	46	0	0	0	1	0	4	46					A	170871094	G	A	170871094	2	1	152	1	0	0	0	0	0	0	0	1	15641	962	34	2		2	TBP	6	170871094	Silent	SNP	G	TCGA-DJ-A4UL-01A-11D-A257-08	139374153	170871094	243973	2	3167											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A4UL-01A-11D-A257-08	TCGA-DJ-A4UL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f10660a-2465-42ed-a2a9-206fbf06bc3f	008c8709-0bc8-4d3c-8792-abc47b447fac	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		25	47	0	0	0	1	0	25	47					T	140453136	A	T	140453136	3	4	152	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A4UL-01A-11D-A257-08		140453136	18685527	3	3168											
GIMAP1	170575	broad.mit.edu	37	chr7	150417467	150417467	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccagttgggtcggttcacCgcccaggaccagcaggcggt	14	14	1	0			TCGA-DJ-A4UL-01A-11D-A257-08	TCGA-DJ-A4UL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f10660a-2465-42ed-a2a9-206fbf06bc3f	008c8709-0bc8-4d3c-8792-abc47b447fac	g.chr7:150417467C>T	ENST00000307194.5	+	3	515	c.375C>T	c.(373-375)acC>acT	p.T125T		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	125	AIG1-type G.				B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTCGGTTCACCGCCCAGGACC	0.637																																						ENST00000307194.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28						c.(373-375)acC>acT		GTPase, IMAP family member 1							46	44	45					7																	150417467		2203	4300	6503	SO:0001819	synonymous_variant	170575							g.chr7:150417467C>T	AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"GTPases, IMAP"	23237	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 2"	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.375C>T	7.37:g.150417467C>T							p.T125T	NM_130759.3	NP_570115.1			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	515	+								B2RCI3|Q8NAZ0	Silent	SNP	ENST00000307194.5	37	c.375C>T	CCDS5906.1																																																																																				0.637	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	NM_130759		20	38	0	0	0	1	0	20	38					T	150417467	C	T	150417467	2	4	152	1	0	0	0	0	0	0	0	1	6379	639	23	1		1	GIMAP1	7	150417467	Silent	SNP	C	TCGA-DJ-A4UL-01A-11D-A257-08	9964331	150417467	8721196	4	3169											
GLIS3	169792	broad.mit.edu	37	chr9	3937126	3937126	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaatacggcttctcgcctgTgtggctccgcaagtggatct	11	12	2	0			TCGA-DJ-A4UL-01A-11D-A257-08	TCGA-DJ-A4UL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f10660a-2465-42ed-a2a9-206fbf06bc3f	008c8709-0bc8-4d3c-8792-abc47b447fac	g.chr9:3937126T>C	ENST00000324333.10	-	4	1502	c.1309A>G	c.(1309-1311)Aca>Gca	p.T437A	GLIS3_ENST00000381971.3_Missense_Mutation_p.T592A|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	437					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|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 core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TTCTCGCCTGTGTGGCTCCGC	0.507																																						ENST00000324333.10																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(1309-1311)Aca>Gca		GLIS family zinc finger 3							103	103	103					9																	3937126		2203	4300	6503	SO:0001583	missense	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:3937126T>C	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"Zinc fingers, C2H2-type"	28510	protein-coding gene	gene with protein product		610192	"zinc finger protein 515"	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.1309A>G	9.37:g.3937126T>C	ENSP00000325494:p.Thr437Ala					GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.T592A	p.T437A	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	4	1502	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	437					B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	37	c.1309A>G	CCDS6451.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.484958	0.84854	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.51574	0.7;0.7	5.94	5.94	0.96194	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47455	U	0.000228	T	0.66036	0.2749	L	0.58428	1.81	0.80722	D	1	D;D;P;D	0.67145	0.983;0.983;0.711;0.996	D;D;P;D	0.77004	0.933;0.933;0.514;0.989	T	0.68465	-0.5401	10	0.87932	D	0	.	16.0679	0.80897	0.0:0.0:0.0:1.0	.	105;105;592;437	Q1PHK2;Q1PHK3;Q8NEA6-2;Q8NEA6	.;.;.;GLIS3_HUMAN	A	437;592	ENSP00000325494:T437A;ENSP00000371398:T592A	ENSP00000325494:T437A	T	-	1	0	GLIS3	3927126	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	8.040000	0.89188	2.265000	0.75225	0.482000	0.46254	ACA		0.507	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		40	74	0	0	0	1	0	40	74					C	3937126	T	C	3937126	3	2	152	1	0	0	0	0	1	0	0	0	6447	1696	59	3	1046	3	GLIS3	9	3937126	Missense_Mutation	SNP	T	TCGA-DJ-A4UL-01A-11D-A257-08		3937126	137276305	5	3170											
DRD4	1815	broad.mit.edu	37	chr11	640585	640585	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaacgtcttccgcaaggcCctgcgtgcctgctgctgagc	12	16	1	1			TCGA-DJ-A4UL-01A-11D-A257-08	TCGA-DJ-A4UL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f10660a-2465-42ed-a2a9-206fbf06bc3f	008c8709-0bc8-4d3c-8792-abc47b447fac	g.chr11:640585C>T	ENST00000176183.5	+	4	1254	c.1242C>T	c.(1240-1242)gcC>gcT	p.A414A		NM_000797.3	NP_000788.2	P21917	DRD4_HUMAN	dopamine receptor D4	462					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult locomotory behavior (GO:0008344)|arachidonic acid secretion (GO:0050482)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|cellular calcium ion homeostasis (GO:0006874)|circadian rhythm (GO:0007623)|dopamine metabolic process (GO:0042417)|dopamine receptor signaling pathway (GO:0007212)|fear response (GO:0042596)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein secretion (GO:0050709)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|olfactory learning (GO:0008355)|photoperiodism (GO:0009648)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of kinase activity (GO:0033674)|positive regulation of penile erection (GO:0060406)|positive regulation of sodium:proton antiporter activity (GO:0032417)|regulation of calcium-mediated signaling (GO:0050848)|regulation of circadian rhythm (GO:0042752)|regulation of dopamine metabolic process (GO:0042053)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of neurotransmitter secretion (GO:0046928)|response to amphetamine (GO:0001975)|response to histamine (GO:0034776)|response to steroid hormone (GO:0048545)|retina development in camera-type eye (GO:0060041)|short-term memory (GO:0007614)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)	cell cortex (GO:0005938)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|vesicle membrane (GO:0012506)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)|SH3 domain binding (GO:0017124)			NS(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Ziprasidone(DB00246)	TCCGCAAGGCCCTGCGTGCCT	0.657																																						ENST00000176183.5																			0				NS(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(1240-1242)gcC>gcT		dopamine receptor D4	Apomorphine(DB00714)|Clozapine(DB00363)|Olanzapine(DB00334)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Ropinirole(DB00268)|Thiethylperazine(DB00372)|Ziprasidone(DB00246)						72	63	66					11																	640585		2202	4298	6500	SO:0001819	synonymous_variant	1815				activation of MAPK activity|adult locomotory behavior|arachidonic acid secretion|behavioral fear response|behavioral response to cocaine|behavioral response to ethanol|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of protein secretion|positive regulation of sodium:hydrogen antiporter activity|regulation of dopamine metabolic process|regulation of inhibitory postsynaptic membrane potential|response to amphetamine|response to histamine|social behavior	integral to plasma membrane	dopamine D4 receptor activity|drug binding|potassium channel regulator activity|SH3 domain binding	g.chr11:640585C>T	L12398	CCDS7710.1	11p15.5	2012-08-08			ENSG00000069696	ENSG00000069696		"GPCR / Class A : Dopamine receptors"	3025	protein-coding gene	gene with protein product		126452					Standard	NM_000797		Approved		uc001lqp.2	P21917	OTTHUMG00000133312	ENST00000176183.5:c.1242C>T	11.37:g.640585C>T							p.A414A	NM_000797.3	NP_000788.2	P21917	DRD4_HUMAN		all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703)	4	1254	+		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	462					B0M0J7|Q7Z7Q5|Q8NGM5	Silent	SNP	ENST00000176183.5	37	c.1242C>T	CCDS7710.1																																																																																				0.657	DRD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257109.1	NM_000797		23	36	0	0	0	1	0	23	36					T	640585	C	T	640585	2	4	152	1	0	0	0	0	0	0	0	1	4759	610	22	2		2	DRD4	11	640585	Silent	SNP	C	TCGA-DJ-A4UL-01A-11D-A257-08		640585	134365931	6	3171											
OR4A47	403253	broad.mit.edu	37	chr11	48510460	48510460	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacattttgaccatggtggGcaacctgctcattgtagtga	10	9	1	2	rs148277853		TCGA-DJ-A4UL-01A-11D-A257-08	TCGA-DJ-A4UL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f10660a-2465-42ed-a2a9-206fbf06bc3f	008c8709-0bc8-4d3c-8792-abc47b447fac	g.chr11:48510460G>A	ENST00000446524.1	+	1	192	c.116G>A	c.(115-117)gGc>gAc	p.G39D		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	39						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(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						ACCATGGTGGGCAACCTGCTC	0.413																																						ENST00000446524.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(115-117)gGc>gAc		olfactory receptor, family 4, subfamily A, member 47		G	ASP/GLY	0,4402		0,0,2201	41	39	40		116	4.0	0.5	11	dbSNP_134	40	1,8589		0,1,4294	no	missense	OR4A47	NM_001005512.2	94	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	39/310	48510460	1,12991	2201	4295	6496	SO:0001583	missense	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48510460G>A	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"GPCR / Class A : Olfactory receptors"	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.116G>A	11.37:g.48510460G>A	ENSP00000412752:p.Gly39Asp						p.G39D	NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN			1	192	+			39						Missense_Mutation	SNP	ENST00000446524.1	37	c.116G>A	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	10.45	1.354311	0.24512	0.0	1.16E-4	ENSG00000237388	ENST00000446524	T	0.04360	3.64	4.91	4.0	0.46444	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000046	T	0.29652	0.0740	H	0.95470	3.675	0.27622	N	0.948316	D	0.89917	1.0	D	0.97110	1.0	T	0.37842	-0.9688	10	0.87932	D	0	.	11.2318	0.48916	0.091:0.0:0.909:0.0	.	39	Q6IF82	O4A47_HUMAN	D	39	ENSP00000412752:G39D	ENSP00000412752:G39D	G	+	2	0	OR4A47	48467036	0.710000	0.27896	0.543000	0.28128	0.002000	0.02628	1.076000	0.30729	1.051000	0.40369	-0.254000	0.11334	GGC		0.413	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		22	24	0	0	0	1	0	22	24					A	48510460	G	A	48510460	3	1	152	1	0	0	0	0	1	0	0	0	11042	1203	42	2	118	2	OR4A47	11	48510460	Missense_Mutation	SNP	G	TCGA-DJ-A4UL-01A-11D-A257-08	47869875	48510460	86496056	7	3172											
GOLGA3	2802	broad.mit.edu	37	chr12	133350748	133350748	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggaatacggtcgtacttgagCtgctggaggcagctgttcag	15	8	1	1			TCGA-DJ-A4UL-01A-11D-A257-08	TCGA-DJ-A4UL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f10660a-2465-42ed-a2a9-206fbf06bc3f	008c8709-0bc8-4d3c-8792-abc47b447fac	g.chr12:133350748C>G	ENST00000450791.2	-	22	4485	c.4302G>C	c.(4300-4302)caG>caC	p.Q1434H	GOLGA3_ENST00000204726.3_Missense_Mutation_p.Q1434H			Q08378	GOGA3_HUMAN	golgin A3	1434					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CGTACTTGAGCTGCTGGAGGC	0.602																																						ENST00000204726.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4300-4302)caG>caC		golgin A3							60	57	58					12																	133350748		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133350748C>G	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.4302G>C	12.37:g.133350748C>G	ENSP00000410378:p.Gln1434His					GOLGA3_ENST00000450791.2_Missense_Mutation_p.Q1434H	p.Q1434H	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	23	4860	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	1434					A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.4302G>C	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.834819	0.71373	.	.	ENSG00000090615	ENST00000204726;ENST00000450791	T;T	0.26810	1.71;1.71	5.58	0.784	0.18578	.	0.000000	0.85682	D	0.000000	T	0.35364	0.0929	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.03413	-1.1039	10	0.72032	D	0.01	.	9.0793	0.36542	0.0:0.4558:0.0:0.5442	.	1434	Q08378	GOGA3_HUMAN	H	1434	ENSP00000204726:Q1434H;ENSP00000410378:Q1434H	ENSP00000204726:Q1434H	Q	-	3	2	GOLGA3	131860821	0.366000	0.25014	0.998000	0.56505	0.991000	0.79684	-0.326000	0.07965	-0.106000	0.12110	0.655000	0.94253	CAG		0.602	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		20	34	0	0	0	1	0	20	34					G	133350748	C	G	133350748	3	3	152	1	0	0	0	0	1	0	0	0	6554	796	28	4	202	4	GOLGA3	12	133350748	Missense_Mutation	SNP	C	TCGA-DJ-A4UL-01A-11D-A257-08		133350748	501147	8	3173											
DNAH9	1770	broad.mit.edu	37	chr17	11757449	11757449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagctggaaggctgctaagGtcaccatggccaaagtggat	15	8	1	0			TCGA-DJ-A4UL-01A-11D-A257-08	TCGA-DJ-A4UL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f10660a-2465-42ed-a2a9-206fbf06bc3f	008c8709-0bc8-4d3c-8792-abc47b447fac	g.chr17:11757449G>A	ENST00000262442.4	+	50	9705	c.9637G>A	c.(9637-9639)Gtc>Atc	p.V3213I	DNAH9_ENST00000454412.2_Missense_Mutation_p.V3213I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3213	Stalk. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGCTGCTAAGGTCACCATGGC	0.562																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(9637-9639)Gtc>Atc		dynein, axonemal, heavy chain 9							92	84	87					17																	11757449		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11757449G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.9637G>A	17.37:g.11757449G>A	ENSP00000262442:p.Val3213Ile					DNAH9_ENST00000454412.2_Missense_Mutation_p.V3213I	p.V3213I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	50	9705	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3213			Stalk (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.9637G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	6.572	0.473925	0.12521	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.75477	-0.94;-0.94	5.49	3.05	0.35203	Dynein heavy chain, coiled coil stalk (1);	0.391329	0.25596	N	0.029596	T	0.46889	0.1416	N	0.10685	0.025	0.80722	D	1	B	0.06786	0.001	B	0.15052	0.012	T	0.38929	-0.9638	10	0.02654	T	1	.	8.3555	0.32327	0.0977:0.0:0.7589:0.1434	.	3213	Q9NYC9	DYH9_HUMAN	I	3213;3213;1795	ENSP00000262442:V3213I;ENSP00000414874:V3213I	ENSP00000262442:V3213I	V	+	1	0	DNAH9	11698174	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	2.979000	0.49313	0.594000	0.29761	0.650000	0.86243	GTC		0.562	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		28	54	0	0	0	1	0	28	54					A	11757449	G	A	11757449	3	1	152	1	0	0	0	0	1	0	0	0	4608	1261	44	2	9835	2	DNAH9	17	11757449	Missense_Mutation	SNP	G	TCGA-DJ-A4UL-01A-11D-A257-08		11757449	69437761	9	3174											
EVPL	2125	broad.mit.edu	37	chr17	74011029	74011029	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggtcccctacggcgtggtaGcggtcggtgagggctcgcac	17	12	0	1			TCGA-DJ-A4UL-01A-11D-A257-08	TCGA-DJ-A4UL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f10660a-2465-42ed-a2a9-206fbf06bc3f	008c8709-0bc8-4d3c-8792-abc47b447fac	g.chr17:74011029G>C	ENST00000301607.3	-	17	2443	c.2190C>G	c.(2188-2190)cgC>cgG	p.R730R	EVPL_ENST00000586740.1_Silent_p.R752R	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	730	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CGGCGTGGTAGCGGTCGGTGA	0.667																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(2188-2190)cgC>cgG		envoplakin							33	35	34					17																	74011029		2202	4299	6501	SO:0001819	synonymous_variant	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74011029G>C	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.2190C>G	17.37:g.74011029G>C						EVPL_ENST00000586740.1_Silent_p.R752R	p.R730R	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			17	2443	-			730			Globular 1.		A0AUV5	Silent	SNP	ENST00000301607.3	37	c.2190C>G	CCDS11737.1																																																																																				0.667	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		12	21	0	0	0	1	0	12	21					C	74011029	G	C	74011029	2	2	152	1	0	0	0	0	0	0	0	1	5292	958	34	4		4	EVPL	17	74011029	Silent	SNP	G	TCGA-DJ-A4UL-01A-11D-A257-08	62253580	74011029	7184181	10	3175											
KCND3	3752	broad.mit.edu	37	chr1	112318869	112318869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgcagtttggtctcagtcCgtcgtctgctttcaaattaa	8	9	3	0	rs149344567		TCGA-DJ-A4UP-01A-11D-A257-08	TCGA-DJ-A4UP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4bf1b6-4123-4c18-987a-f814b572a708	eaf8980b-fe88-4642-ba40-8b94e462e275	g.chr1:112318869C>T	ENST00000315987.2	-	8	2277	c.1798G>A	c.(1798-1800)Gga>Aga	p.G600R	KCND3_ENST00000369697.1_Missense_Mutation_p.G581R|KCND3_ENST00000302127.4_Missense_Mutation_p.G581R	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	600			G -> R (probable disease-associated mutation found in a case of sudden unexplained death syndrome; gain of function; dbSNP:rs149344567). {ECO:0000269|PubMed:22457051}.		cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GGTCTCAGTCCGTCGTCTGCT	0.562																																						ENST00000369697.1																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49						c.(1741-1743)Gga>Aga		potassium voltage-gated channel, Shal-related subfamily, member 3		C	ARG/GLY,ARG/GLY	0,4406		0,0,2203	124	107	113		1798,1741	5.6	1.0	1	dbSNP_134	113	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KCND3	NM_004980.4,NM_172198.2	125,125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	600/656,581/637	112318869	1,13005	2203	4300	6503	SO:0001583	missense	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112318869C>T	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6239	protein-coding gene	gene with protein product		605411	"spinocerebellar ataxia 22", "spinocerebellar ataxia 19"	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.1798G>A	1.37:g.112318869C>T	ENSP00000319591:p.Gly600Arg					KCND3_ENST00000302127.4_Missense_Mutation_p.G581R|KCND3_ENST00000315987.2_Missense_Mutation_p.G600R	p.G581R			Q9UK17	KCND3_HUMAN		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	6	1810	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	600					O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	37	c.1741G>A	CCDS843.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.219406	0.39201	0.0	1.16E-4	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.96716	-4.1;-4.1;-4.1	5.63	5.63	0.86233	.	0.607066	0.18170	N	0.149476	D	0.90414	0.6999	N	0.22421	0.69	0.39537	D	0.968767	B;B	0.27882	0.192;0.192	B;B	0.19946	0.027;0.027	D	0.86865	0.2032	10	0.45353	T	0.12	.	19.6392	0.95751	0.0:1.0:0.0:0.0	.	581;600	Q14D71;Q9UK17	.;KCND3_HUMAN	R	581;600;581	ENSP00000358711:G581R;ENSP00000319591:G600R;ENSP00000306923:G581R	ENSP00000306923:G581R	G	-	1	0	KCND3	112120392	0.938000	0.31826	1.000000	0.80357	0.998000	0.95712	1.911000	0.39937	2.814000	0.96858	0.655000	0.94253	GGA		0.562	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		4	41	0	0	0	1	0	4	41					T	112318869	C	T	112318869	3	4	153	1	0	0	0	0	1	0	0	0	8020	661	23	1	173	1	KCND3	1	112318869	Missense_Mutation	SNP	C	TCGA-DJ-A4UP-01A-11D-A257-08		112318869	136931752	1	3176											
DHX16	8449	broad.mit.edu	37	chr6	30633345	30633345	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ccggtactcccgggcgagatCccgcactcgccgcttatatt	10	16	0	1			TCGA-DJ-A4UP-01A-11D-A257-08	TCGA-DJ-A4UP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4bf1b6-4123-4c18-987a-f814b572a708	eaf8980b-fe88-4642-ba40-8b94e462e275	g.chr6:30633345C>G	ENST00000376442.3	-	5	1027	c.832G>C	c.(832-834)Gat>Cat	p.D278H		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	278					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						CGGGCGAGATCCCGCACTCGC	0.632																																						ENST00000376442.3																			0				kidney(2)|ovary(2)	4						c.(832-834)Gat>Cat		DEAH (Asp-Glu-Ala-His) box polypeptide 16							72	68	69					6																	30633345		1510	2709	4219	SO:0001583	missense	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30633345C>G	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"DEAH-boxes"	2739	protein-coding gene	gene with protein product		603405	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.832G>C	6.37:g.30633345C>G	ENSP00000365625:p.Asp278His						p.D278H	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN			5	1027	-			278					O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	ENST00000376442.3	37	c.832G>C	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	c	24.7	4.564033	0.86335	.	.	ENSG00000204560	ENST00000376442;ENST00000415603	T;T	0.51325	0.71;0.71	5.12	5.12	0.69794	.	0.102877	0.64402	D	0.000005	T	0.30759	0.0775	L	0.45051	1.395	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.13407	0.002;0.009	T	0.10245	-1.0638	10	0.51188	T	0.08	.	17.4724	0.87649	0.0:1.0:0.0:0.0	.	218;278	B4DZ28;O60231	.;DHX16_HUMAN	H	278;218	ENSP00000365625:D278H;ENSP00000399101:D218H	ENSP00000365625:D278H	D	-	1	0	DHX16	30741324	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.555000	0.73928	2.652000	0.90054	0.586000	0.80456	GAT		0.632	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		12	58	0	0	0	1	0	12	58					G	30633345	C	G	30633345	3	3	153	1	0	0	0	0	1	0	0	0	4502	855	30	4	2357	4	DHX16	6	30633345	Missense_Mutation	SNP	C	TCGA-DJ-A4UP-01A-11D-A257-08		30633345	140481722	2	3177											
ADAMDEC1	27299	broad.mit.edu	37	chr8	24250806	24250806	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctgaagttcaatatcagaTgatcttaaatggagaagaaa	8	5	3	5			TCGA-DJ-A4UP-01A-11D-A257-08	TCGA-DJ-A4UP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4bf1b6-4123-4c18-987a-f814b572a708	eaf8980b-fe88-4642-ba40-8b94e462e275	g.chr8:24250806T>C	ENST00000256412.4	+	3	459	c.239T>C	c.(238-240)aTg>aCg	p.M80T	RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Start_Codon_SNP_p.M1T|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000538205.1_Start_Codon_SNP_p.M1T	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	80					immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CAATATCAGATGATCTTAAAT	0.303																																					Ovarian(147;687 1849 3699 25981 31337)	ENST00000256412.4																			0				NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9						c.(238-240)aTg>aCg		ADAM-like, decysin 1							64	68	67					8																	24250806		2203	4298	6501	SO:0001583	missense	27299				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:24250806T>C	Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.239T>C	8.37:g.24250806T>C	ENSP00000256412:p.Met80Thr					RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Start_Codon_SNP_p.M1T|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000538205.1_Start_Codon_SNP_p.M1T	p.M80T	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)	3	459	+		Prostate(55;0.0181)	80					B7ZAK5	Missense_Mutation	SNP	ENST00000256412.4	37	c.239T>C	CCDS6044.1	.	.	.	.	.	.	.	.	.	.	T	10.46	1.357774	0.24598	.	.	ENSG00000134028	ENST00000256412;ENST00000538205;ENST00000522298	T;T;T	0.06068	3.35;4.2;4.2	5.47	5.47	0.80525	Peptidase M12B, propeptide (1);	0.394455	0.24504	N	0.037952	T	0.10766	0.0263	M	0.62723	1.935	0.80722	D	1	B	0.30406	0.278	B	0.34385	0.181	T	0.02059	-1.1221	10	0.72032	D	0.01	-6.2231	11.951	0.52954	0.0:0.0:0.0:1.0	.	80	O15204	ADEC1_HUMAN	T	80;1;1	ENSP00000256412:M80T;ENSP00000442592:M1T;ENSP00000428993:M1T	ENSP00000256412:M80T	M	+	2	0	ADAMDEC1	24306751	0.994000	0.37717	0.862000	0.33874	0.265000	0.26407	3.640000	0.54350	2.069000	0.61940	0.460000	0.39030	ATG		0.303	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	NM_014479		6	53	0	0	0	1	0	6	53					C	24250806	T	C	24250806	3	2	153	1	0	0	0	0	1	0	0	0	254	1464	51	3	249	3	ADAMDEC1	8	24250806	Missense_Mutation	SNP	T	TCGA-DJ-A4UP-01A-11D-A257-08		24250806	122113216	3	3178											
COTL1	23406	broad.mit.edu	37	chr16	84600451	84600451	+	Nonstop_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtggcgggggctggggTtactccgtctgggcgtcgta	20	8	1	0			TCGA-DJ-A4UP-01A-11D-A257-08	TCGA-DJ-A4UP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4bf1b6-4123-4c18-987a-f814b572a708	eaf8980b-fe88-4642-ba40-8b94e462e275	g.chr16:84600451T>G	ENST00000262428.4	-	4	591	c.429A>C	c.(427-429)taA>taC	p.*143Y	COTL1_ENST00000564057.1_Nonstop_Mutation_p.*74Y|COTL1_ENST00000567278.1_5'UTR	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like F-actin binding protein 1	0					defense response to fungus (GO:0050832)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)			endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						GGGGCTGGGGTTACTCCGTCT	0.622																																						ENST00000262428.4																			0				endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						c.(427-429)taA>taC		coactosin-like 1 (Dictyostelium)							37	39	38					16																	84600451		2198	4300	6498	SO:0001578	stop_lost	23406					cytoplasm|cytoskeleton	actin binding|enzyme binding	g.chr16:84600451T>G	L54057	CCDS10947.1	16q24.1	2014-03-05	2014-03-05	2002-08-01	ENSG00000103187	ENSG00000103187			18304	protein-coding gene	gene with protein product		606748	"coactosin-like 1 (Dictyostelium)"			10051563, 9326934, 16924104	Standard	NM_021149		Approved	CLP	uc002fid.3	Q14019	OTTHUMG00000137634	ENST00000262428.4:c.429A>C	16.37:g.84600451T>G						COTL1_ENST00000567278.1_5'UTR|COTL1_ENST00000564057.1_Nonstop_Mutation_p.*74Y	p.*143Y	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN			4	591	-			0					B2RDU3|D3DUL9|Q86XM5	Nonstop_Mutation	SNP	ENST00000262428.4	37	c.429A>C	CCDS10947.1	.	.	.	.	.	.	.	.	.	.	T	5.605	0.296286	0.10622	.	.	ENSG00000103187	ENST00000262428	.	.	.	5.04	1.29	0.21616	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4446	0.27203	0.0:0.342:0.0:0.658	.	.	.	.	Y	143	.	.	X	-	3	2	COTL1	83157952	0.029000	0.19370	0.896000	0.35187	0.170000	0.22686	0.122000	0.15687	-0.053000	0.13289	-0.441000	0.05720	TAA		0.622	COTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269075.1	NM_021149		7	18	0	0	0	1	0	7	18					G	84600451	T	G	84600451	4	3	153	1	0	0	0	0	0	0	0	0	3761	1732	60	5	3	5	COTL1	16	84600451	Nonstop_Mutation	SNP	T	TCGA-DJ-A4UP-01A-11D-A257-08		84600451	5754302	4	3179											
ANKRD30B	374860	broad.mit.edu	37	chr18	14779969	14779969	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	acatttttagatcagatgttCccatcagaatccaaacgaga	6	9	2	4	rs9675365	byFrequency	TCGA-DJ-A4UP-01A-11D-A257-08	TCGA-DJ-A4UP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4bf1b6-4123-4c18-987a-f814b572a708	eaf8980b-fe88-4642-ba40-8b94e462e275	g.chr18:14779969C>G	ENST00000358984.4	+	11	1611	c.1431C>G	c.(1429-1431)ttC>ttG	p.F477L	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.F477L	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	477			F -> L (in dbSNP:rs9675365).					p.F477L(2)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ATCAGATGTTCCCATCAGAAT	0.279													C|||	2332	0.465655	0.4773	0.4265	5008	,	,		15526	0.4187		0.5159	False		,,,				2504	0.4744					ENST00000358984.4																			2	Substitution - Missense(2)	p.F477L(2)	prostate(2)	breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(1429-1431)ttC>ttG		ankyrin repeat domain 30B							167	153	157					18																	14779969		692	1591	2283	SO:0001583	missense	374860							g.chr18:14779969C>G	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"Ankyrin repeat domain containing"	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.1431C>G	18.37:g.14779969C>G	ENSP00000351875:p.Phe477Leu					ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.F477L	p.F477L	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			11	1611	+			477		F -> L (in dbSNP:rs9675365).			B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.1431C>G	CCDS54182.1	1018	0.4661172161172161	231	0.4695121951219512	157	0.43370165745856354	240	0.4195804195804196	390	0.5145118733509235	N	12.12	1.843849	0.32606	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.39406	1.08;1.4	1.69	-2.4	0.06583	.	.	.	.	.	T	0.00012	0.0000	L	0.47716	1.5	0.80722	P	0.0	B	0.30584	0.286	B	0.22753	0.041	T	0.48547	-0.9026	8	0.07990	T	0.79	.	0.2761	0.00238	0.3065:0.2974:0.1877:0.2084	rs9675365;rs52827349;rs59076177;rs9675365	477	F8WAG3	.	L	477	ENSP00000351875:F477L;ENSP00000399031:F477L	ENSP00000351875:F477L	F	+	3	2	ANKRD30B	14769969	0.988000	0.35896	0.000000	0.03702	0.155000	0.21991	0.095000	0.15127	-0.611000	0.05709	0.297000	0.19635	TTC		0.279	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		7	13	0	0	0	1	0	7	13					G	14779969	C	G	14779969	3	3	153	1	0	0	0	0	1	0	0	0	659	854	30	4	1473	4	ANKRD30B	18	14779969	Missense_Mutation	SNP	C	TCGA-DJ-A4UP-01A-11D-A257-08		14779969	63297279	5	3180											
LIN37	126393	broad.mit.edu	37	chr19	36245363	36245363	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatcctacgagagatgtaCgaacgacagtgatgttccca	10	9	0	3	rs539383447	byFrequency	TCGA-DJ-A4UP-01A-11D-A257-08	TCGA-DJ-A4UP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4bf1b6-4123-4c18-987a-f814b572a708	eaf8980b-fe88-4642-ba40-8b94e462e275	g.chr19:36245363C>T	ENST00000592984.1	-	0	1634				LIN37_ENST00000301159.9_Silent_p.Y243Y|AC002398.11_ENST00000591091.1_RNA|AC002398.12_ENST00000587767.1_RNA|AC002398.9_ENST00000591613.2_3'UTR			O14558	HSPB6_HUMAN	heat shock protein, alpha-crystallin-related, B6						regulation of muscle contraction (GO:0006937)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)			lung(1)	1	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGAGATGTACGAACGACAGT	0.577													C|||	2	0.000399361	8e-04	0	5008	,	,		18745	0.001		0	False		,,,				2504	0					ENST00000301159.9																			0				large_intestine(1)|lung(5)	6						c.(727-729)taC>taT		lin-37 homolog (C. elegans)							59	61	60					19																	36245363		2037	4177	6214	SO:0001628	intergenic_variant	55957						protein binding	g.chr19:36245363C>T	AJ278121	CCDS12475.1	19q13.13	2014-06-12			ENSG00000004776	ENSG00000004776		"Heat shock proteins / HSPB"	26511	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 91"	610695				12820654, 14717697	Standard	NM_144617		Approved	FLJ32389, Hsp20, PPP1R91	uc002obn.2	O14558	OTTHUMG00000048122		19.37:g.36245363C>T						AC002398.9_ENST00000591613.2_3'UTR	p.Y243Y	NM_019104.2	NP_061977.1	Q96GY3	LIN37_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		9	1093	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		243					O14551|Q6NVI3|Q96MG9	Silent	SNP	ENST00000592984.1	37	c.729C>T	CCDS12475.1																																																																																				0.577	HSPB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109498.3	NM_144617		6	25	0	0	0	1	0	6	25					T	36245363	C	T	36245363	1	4	153	0	1	0	0	0	0	0	0	0	8807	547	19	1		1	LIN37	19	36245363	IGR	SNP	C	TCGA-DJ-A4UP-01A-11D-A257-08		36245363	22883620	6	3181											
JAM2	58494	broad.mit.edu	37	chr21	27012164	27012166	+	In_Frame_Del	DEL	CTG	CTG	-													ggagccgccaccgcctcctcCtgctgctgctgcgctacctg							TCGA-DJ-A4UP-01A-11D-A257-08	TCGA-DJ-A4UP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4bf1b6-4123-4c18-987a-f814b572a708	eaf8980b-fe88-4642-ba40-8b94e462e275	g.chr21:27012164_27012166delCTG	ENST00000480456.1	+	1	581_583	c.31_33delCTG	c.(31-33)ctgdel	p.L14del	JAM2_ENST00000425221.2_In_Frame_Del_p.L14del|JAM2_ENST00000312957.5_In_Frame_Del_p.L14del|JAM2_ENST00000400532.1_In_Frame_Del_p.L14del	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	14					blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						CCGCCTCCTCCTGCTGCTGCTGC	0.724																																						ENST00000480456.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						c.(31-33)del		junctional adhesion molecule 2				37,3701		1,35,1833						-5.6	0.0			26	92,7824		1,90,3867	no	coding	JAM2	NM_021219.2		2,125,5700	A1A1,A1R,RR		1.1622,0.9898,1.1069				129,11525				SO:0001651	inframe_deletion	58494				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		g.chr21:27012164_27012166delCTG	AF255910	CCDS42911.1, CCDS58787.1, CCDS58788.1	21q21.2	2013-01-11			ENSG00000154721	ENSG00000154721		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing"	14686	protein-coding gene	gene with protein product		606870		C21orf43		10779521, 10945976	Standard	NM_021219		Approved	VE-JAM, JAM-B, JAMB, CD322	uc031rvc.1	P57087	OTTHUMG00000078441	ENST00000480456.1:c.31_33delCTG	21.37:g.27012173_27012175delCTG	ENSP00000420419:p.Leu14del					JAM2_ENST00000400532.1_In_Frame_Del_p.L14del|JAM2_ENST00000425221.2_In_Frame_Del_p.L14del|JAM2_ENST00000312957.5_In_Frame_Del_p.L14del	p.L14del	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN			1	581_583	+			14					B2R6T9|B4DGT9|Q6UXG6|Q6YNC1	In_Frame_Del	DEL	ENST00000480456.1	37	c.31_33delCTG	CCDS42911.1																																																																																				0.724	JAM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171347.1			2	4						2	4	---	---	---	---	-	27012166	CTG	-	27012164	7	5	153	1	0	1	0	1	0	0	0	0	7943	680	24	0	33	0	JAM2	21	27012164	In_Frame_Del	DEL	CTG	TCGA-DJ-A4UP-01A-11D-A257-08		27012164	21117731	7	3182											
ZNF74	7625	broad.mit.edu	37	chr22	20759722	20759722	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatttgcaaagaagaaccGgcccaggagcccatcatgga	12	11	1	2			TCGA-DJ-A4UP-01A-11D-A257-08	TCGA-DJ-A4UP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4bf1b6-4123-4c18-987a-f814b572a708	eaf8980b-fe88-4642-ba40-8b94e462e275	g.chr22:20759722G>A	ENST00000400451.2	+	5	913	c.399G>A	c.(397-399)ccG>ccA	p.P133P	ZNF74_ENST00000405993.1_Silent_p.P101P|ZNF74_ENST00000357502.5_Missense_Mutation_p.G139S|ZNF74_ENST00000356671.5_Silent_p.P133P|ZNF74_ENST00000403682.3_Missense_Mutation_p.G105S	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	133					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			AAGAAGAACCGGCCCAGGAGC	0.627																																						ENST00000403682.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(313-315)Ggc>Agc		zinc finger protein 74							50	55	54					22																	20759722		1876	4089	5965	SO:0001819	synonymous_variant	7625				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr22:20759722G>A	X71623	CCDS42982.1, CCDS58794.1	22q11.2	2013-01-08	2006-05-12		ENSG00000185252	ENSG00000185252		"Zinc fingers, C2H2-type", "-"	13144	protein-coding gene	gene with protein product		194548	"zinc finger protein 74 (Cos52)"			1639391, 10591208	Standard	NM_003426		Approved	Cos52, Zfp520, ZNF520	uc010gsm.4	Q16587	OTTHUMG00000150687	ENST00000400451.2:c.399G>A	22.37:g.20759722G>A						ZNF74_ENST00000405993.1_Silent_p.P101P|ZNF74_ENST00000400451.2_Silent_p.P133P|ZNF74_ENST00000356671.5_Silent_p.P133P|ZNF74_ENST00000357502.5_Missense_Mutation_p.G139S	p.G105S	NM_001256523.1	NP_001243452.1	Q16587	ZNF74_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		4	814	+	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	0			KRAB.		B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07	Missense_Mutation	SNP	ENST00000400451.2	37	c.313G>A	CCDS42982.1	.	.	.	.	.	.	.	.	.	.	G	5.677	0.309453	0.10733	.	.	ENSG00000185252	ENST00000403682;ENST00000357502	.	.	.	4.35	-8.7	0.00851	.	.	.	.	.	T	0.34424	0.0897	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.53005	-0.8499	5	0.87932	D	0	-4.3214	5.9698	0.19346	0.1078:0.1602:0.4951:0.2369	.	.	.	.	S	105;139	.	ENSP00000350101:G139S	G	+	1	0	ZNF74	19089722	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-6.314000	0.00071	-5.057000	0.00023	-1.872000	0.00552	GGC		0.627	ZNF74-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319648.2	NM_003426		14	59	0	0	0	1	0	14	59					A	20759722	G	A	20759722	2	1	153	1	0	0	0	0	0	0	0	1	18124	1103	39	1		1	ZNF74	22	20759722	Silent	SNP	G	TCGA-DJ-A4UP-01A-11D-A257-08		20759722	30544844	8	3183											
ZXDA	7789	broad.mit.edu	37	chrX	57936620	57936620	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gccgccgccgctaggttgatGgggcctcggcgcgaacaggc	17	14	0	1	rs151072020		TCGA-DJ-A4UP-01A-11D-A257-08	TCGA-DJ-A4UP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4bf1b6-4123-4c18-987a-f814b572a708	eaf8980b-fe88-4642-ba40-8b94e462e275	g.chrX:57936620G>C	ENST00000358697.4	-	1	447	c.235C>G	c.(235-237)Cat>Gat	p.H79D		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	79					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						CTAGGTTGATGGGGCCTCGGC	0.756													G|||	9	0.00238411	0.0023	0.0043	3775	,	,		7164	0.001		0	False		,,,				2504	0.002					ENST00000358697.4																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						c.(235-237)Cat>Gat		zinc finger, X-linked, duplicated A		G	ASP/HIS	1,3605		0,1,1541,522	11	12	12		235	0.1	0.0	X	dbSNP_134	12	0,6443		0,0,2353,1737	yes	missense	ZXDA	NM_007156.4	81	0,1,3894,2259	CC,CG,GG,G		0.0,0.0277,0.01	benign	79/800	57936620	1,10048	2064	4090	6154	SO:0001583	missense	7789				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:57936620G>C	L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"Zinc fingers, C2H2-type"	13198	protein-coding gene	gene with protein product	"zinc finger protein 896"	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.235C>G	X.37:g.57936620G>C	ENSP00000351530:p.His79Asp						p.H79D	NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN			1	447	-			79					Q9UJP7	Missense_Mutation	SNP	ENST00000358697.4	37	c.235C>G	CCDS14376.1	3	0.0018083182640144665	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	.	0.001	-3.048569	0.00039	2.77E-4	0.0	ENSG00000198205	ENST00000358697	T	0.18960	2.18	2.97	0.144	0.14824	.	0.883731	0.09514	N	0.791822	T	0.04407	0.0121	N	0.00707	-1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38735	-0.9647	9	.	.	.	.	0.4688	0.00528	0.1995:0.3486:0.1943:0.2576	.	79	P98168	ZXDA_HUMAN	D	79	ENSP00000351530:H79D	.	H	-	1	0	ZXDA	57953345	0.000000	0.05858	0.001000	0.08648	0.051000	0.14879	0.024000	0.13555	-0.084000	0.12595	-0.777000	0.03380	CAT		0.756	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056925.1	NM_007156		3	23	0	0	0	1	0	3	23					C	57936620	G	C	57936620	3	2	153	1	0	0	0	0	1	0	0	0	18247	1348	47	4	2168	4	ZXDA	23	57936620	Missense_Mutation	SNP	G	TCGA-DJ-A4UP-01A-11D-A257-08		57936620	97333940	9	3184			1	8		2	2	14	G		4.199396e-06
ZXDA	7789	broad.mit.edu	37	chrX	57936633	57936633	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ggttgatggggcctcggcgcGaacaggcttgggccagggcc	19	11	0	1			TCGA-DJ-A4UP-01A-11D-A257-08	TCGA-DJ-A4UP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4bf1b6-4123-4c18-987a-f814b572a708	eaf8980b-fe88-4642-ba40-8b94e462e275	g.chrX:57936633G>C	ENST00000358697.4	-	1	434	c.222C>G	c.(220-222)ttC>ttG	p.F74L		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	74					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						GCCTCGGCGCGAACAGGCTTG	0.761													G|||	3	0.000794702	0	0.0029	3775	,	,		7034	0.001		0	False		,,,				2504	0					ENST00000358697.4																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						c.(220-222)ttC>ttG		zinc finger, X-linked, duplicated A							10	11	11					X																	57936633		2123	4175	6298	SO:0001583	missense	7789				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:57936633G>C	L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"Zinc fingers, C2H2-type"	13198	protein-coding gene	gene with protein product	"zinc finger protein 896"	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.222C>G	X.37:g.57936633G>C	ENSP00000351530:p.Phe74Leu						p.F74L	NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN			1	434	-			74					Q9UJP7	Missense_Mutation	SNP	ENST00000358697.4	37	c.222C>G	CCDS14376.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.421410	0.00188	.	.	ENSG00000198205	ENST00000358697	T	0.20881	2.04	2.7	1.83	0.25207	.	0.366434	0.17474	N	0.172999	T	0.06234	0.0161	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40440	-0.9563	9	.	.	.	.	9.0185	0.36184	0.0:0.775:0.2249:0.0	.	74	P98168	ZXDA_HUMAN	L	74	ENSP00000351530:F74L	.	F	-	3	2	ZXDA	57953358	0.116000	0.22171	0.060000	0.19600	0.054000	0.15201	0.560000	0.23500	0.562000	0.29204	-0.777000	0.03380	TTC		0.761	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056925.1	NM_007156		3	21	0	0	0	1	0	3	21					C	57936633	G	C	57936633	3	2	153	1	0	0	0	0	1	0	0	0	18247	1049	37	4	2181	4	ZXDA	23	57936633	Missense_Mutation	SNP	G	TCGA-DJ-A4UP-01A-11D-A257-08	13	57936633	97333927	10	3185			1	8		2	2	14	G		4.199396e-06
PADI1	29943	broad.mit.edu	37	chr1	17565186	17565186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaaagaagagggttatgggGaggcagcccagtttgatggt	17	4	0	4			TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr1:17565186G>A	ENST00000375471.4	+	13	1626	c.1534G>A	c.(1534-1536)Gag>Aag	p.E512K	PADI1_ENST00000413717.2_Missense_Mutation_p.E69K|PADI1_ENST00000537499.1_Missense_Mutation_p.E69K|PADI1_ENST00000536552.1_5'UTR	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	512					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GGGTTATGGGGAGGCAGCCCA	0.607																																					Esophageal Squamous(80;414 1257 4580 27746 50832)	ENST00000375471.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28						c.(1534-1536)Gag>Aag		peptidyl arginine deiminase, type I	L-Citrulline(DB00155)						43	40	41					1																	17565186		2203	4300	6503	SO:0001583	missense	29943				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17565186G>A	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"Peptidyl arginine deiminases"	18367	protein-coding gene	gene with protein product	"peptidylarginine deiminase type I", "protein-arginine deiminase type-1", "hPAD-colony 10"	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.1534G>A	1.37:g.17565186G>A	ENSP00000364620:p.Glu512Lys					PADI1_ENST00000536552.1_5'UTR|PADI1_ENST00000537499.1_Missense_Mutation_p.E69K|PADI1_ENST00000413717.2_Missense_Mutation_p.E69K	p.E512K	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	13	1626	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	512					A1L4K6|Q70SX6	Missense_Mutation	SNP	ENST00000375471.4	37	c.1534G>A	CCDS178.1	.	.	.	.	.	.	.	.	.	.	G	5.970	0.362948	0.11296	.	.	ENSG00000142623	ENST00000375471;ENST00000537499;ENST00000413717	T;T;T	0.22336	1.96;1.96;1.96	4.27	1.08	0.20341	Protein-arginine deiminase, C-terminal (1);	0.740822	0.13068	N	0.416330	T	0.18841	0.0452	L	0.51422	1.61	0.22240	N	0.99926	B;B	0.12013	0.003;0.005	B;B	0.18263	0.021;0.015	T	0.21586	-1.0241	10	0.37606	T	0.19	-22.3061	9.0964	0.36642	0.3014:0.0:0.6986:0.0	.	69;512	B4DPX6;Q9ULC6	.;PADI1_HUMAN	K	512;69;69	ENSP00000364620:E512K;ENSP00000444032:E69K;ENSP00000396697:E69K	ENSP00000364620:E512K	E	+	1	0	PADI1	17437773	0.244000	0.23889	0.737000	0.30932	0.046000	0.14306	0.770000	0.26618	0.448000	0.26722	0.313000	0.20887	GAG		0.607	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358		7	6	0	0	0	1	0	7	6					A	17565186	G	A	17565186	3	1	154	1	0	0	0	0	1	0	0	0	11377	1175	41	2	1584	2	PADI1	1	17565186	Missense_Mutation	SNP	G	TCGA-DJ-A4UQ-01A-11D-A257-08		17565186	231685435	1	3186											
MTF2	22823	broad.mit.edu	37	chr1	93581066	93581066	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggaccaaatgccaaagcaTtgcaagtcatgaagcagaca	9	9	1	2			TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr1:93581066T>G	ENST00000370298.4	+	6	812	c.523T>G	c.(523-525)Ttg>Gtg	p.L175V	MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000540243.1_Missense_Mutation_p.L73V|MTF2_ENST00000545708.1_Missense_Mutation_p.L73V|MTF2_ENST00000370303.4_Missense_Mutation_p.L175V	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	175					chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|segment specification (GO:0007379)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		TGCCAAAGCATTGCAAGTCAT	0.408																																						ENST00000370298.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(523-525)Ttg>Gtg		metal response element binding transcription factor 2							123	102	109					1																	93581066		2203	4300	6503	SO:0001583	missense	22823					nucleus	DNA binding|zinc ion binding	g.chr1:93581066T>G	AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033		"Tudor domain containing", "Zinc fingers, PHD-type"	29535	protein-coding gene	gene with protein product	"polycomb-like 2", "tudor domain containing 19A"	609882				15563832	Standard	NM_007358		Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.523T>G	1.37:g.93581066T>G	ENSP00000359321:p.Leu175Val					MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000545708.1_Missense_Mutation_p.L73V|MTF2_ENST00000370303.4_Missense_Mutation_p.L175V|MTF2_ENST00000540243.1_Missense_Mutation_p.L73V	p.L175V	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384.1	Q9Y483	MTF2_HUMAN		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)	6	812	+		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)	175					A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	Missense_Mutation	SNP	ENST00000370298.4	37	c.523T>G	CCDS742.1	.	.	.	.	.	.	.	.	.	.	T	14.02	2.410170	0.42715	.	.	ENSG00000143033	ENST00000545708;ENST00000540243;ENST00000370298;ENST00000537953;ENST00000370303	T;T;T;T	0.34072	1.38;1.38;1.8;1.88	5.37	1.67	0.24075	.	0.202503	0.43416	D	0.000565	T	0.29783	0.0744	M	0.76002	2.32	0.45946	D	0.998771	P;B	0.51449	0.945;0.255	P;B	0.49799	0.622;0.155	T	0.07443	-1.0772	10	0.46703	T	0.11	-3.6705	9.0478	0.36358	0.0:0.3596:0.0:0.6404	.	175;175	B1AKT6;Q9Y483	.;MTF2_HUMAN	V	73;73;175;73;175	ENSP00000444962:L73V;ENSP00000443295:L73V;ENSP00000359321:L175V;ENSP00000359326:L175V	ENSP00000359321:L175V	L	+	1	2	MTF2	93353654	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	1.275000	0.33144	0.018000	0.15052	-1.054000	0.02325	TTG		0.408	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028075.3	NM_007358		12	33	0	0	0	1	0	12	33					G	93581066	T	G	93581066	3	3	154	1	0	0	0	0	1	0	0	0	9923	1490	52	5	545	5	MTF2	1	93581066	Missense_Mutation	SNP	T	TCGA-DJ-A4UQ-01A-11D-A257-08	76015880	93581066	155669555	2	3187											
PRPF38B	55119	broad.mit.edu	37	chr1	109242566	109242580	+	In_Frame_Del	DEL	ATGATCGTCGAAGGA	ATGATCGTCGAAGGA	-													taaggaccagtcagacaaacAtgatcgtcgaaggagccaaa					rs377228092|rs140893827		TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr1:109242566_109242580delATGATCGTCGAAGGA	ENST00000370025.4	+	6	1834_1848	c.1565_1579delATGATCGTCGAAGGA	c.(1564-1581)catgatcgtcgaaggagc>cgc	p.522_527HDRRRS>R	PRPF38B_ENST00000370021.1_In_Frame_Del_p.411_416HDRRRS>R	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	522					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			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)		TCAGACAAACATGATCGTCGAAGGAGCCAAAGTAT	0.377																																						ENST00000370021.1																			0				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19						c.(1231-1248)cgc>c		pre-mRNA processing factor 38B																																				SO:0001651	inframe_deletion	55119				mRNA processing|RNA splicing	spliceosomal complex		g.chr1:109242566_109242580delATGATCGTCGAAGGA	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.1565_1579delATGATCGTCGAAGGA	1.37:g.109242566_109242580delATGATCGTCGAAGGA	ENSP00000359042:p.His522_Ser527delinsArg					PRPF38B_ENST00000370025.4_In_Frame_Del_p.HDRRRS522del	p.HDRRRS411del			Q5VTL8	PR38B_HUMAN		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)	7	1869_1883	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	522			Arg-rich.		Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	In_Frame_Del	DEL	ENST00000370025.4	37	c.1232_1246delATGATCGTCGAAGGA	CCDS788.1																																																																																				0.377	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	NM_018061		7	151						7	151	---	---	---	---	-	109242580	ATGATCGTCGAAGGA	-	109242566	7	5	154	1	0	1	0	1	0	0	0	0	12568	217	8	0	1587	0	PRPF38B	1	109242566	In_Frame_Del	DEL	ATGATCGTCGAAGGA	TCGA-DJ-A4UQ-01A-11D-A257-08	15661500	109242566	140008055	3	3188											
CSDE1	7812	broad.mit.edu	37	chr1	115276367	115276368	+	Missense_Mutation	DNP	GT	GT	AA													atttacctggtttttactggGtacttttgggataactttgg							TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr1:115276367_115276368GT>AA	ENST00000358528.4	-	9	1248_1249	c.822_823AC>TT	c.(820-825)gtACcc>gtTTcc	p.P275S	CSDE1_ENST00000534699.1_Missense_Mutation_p.P275S|CSDE1_ENST00000369530.1_Missense_Mutation_p.P290S|CSDE1_ENST00000339438.6_Missense_Mutation_p.P244S|CSDE1_ENST00000438362.2_Missense_Mutation_p.P321S|CSDE1_ENST00000261443.5_Missense_Mutation_p.P244S|CSDE1_ENST00000530886.1_Missense_Mutation_p.P145S	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	275					male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTTTACTGGGTACTTTTGGGA	0.347																																						ENST00000438362.2																			0				NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51						c.(961-963)Ccc>Tcc|c.(958-960)gtA>gtT		cold shock domain containing E1, RNA-binding																																				SO:0001583	missense	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115276367G>A|g.chr1:115276368T>A		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"upstream of NRAS"	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.822_823delinsAA	1.37:g.115276367_115276368delinsAA	ENSP00000351329:p.Pro275Ser					CSDE1_ENST00000358528.4_Missense_Mutation_p.P275S|CSDE1_ENST00000261443.5_Missense_Mutation_p.P244S|CSDE1_ENST00000534699.1_Missense_Mutation_p.P275S|CSDE1_ENST00000369530.1_Missense_Mutation_p.P290S|CSDE1_ENST00000530886.1_Missense_Mutation_p.P145S|CSDE1_ENST00000339438.6_Missense_Mutation_p.P244S|CSDE1_ENST00000358528.4_Silent_p.V274V|CSDE1_ENST00000261443.5_Silent_p.V243V|CSDE1_ENST00000534699.1_Silent_p.V274V|CSDE1_ENST00000369530.1_Silent_p.V289V|CSDE1_ENST00000530886.1_Silent_p.V144V|CSDE1_ENST00000339438.6_Silent_p.V243V	p.P321S|p.V320V	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	1339|1338	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	275|274			CSD 4; truncated.		A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Missense_Mutation|Silent	SNP	ENST00000358528.4	37	c.961C>T|c.960A>T	CCDS30812.1																																																																																				0.347	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		11	18|17	0	0	0	1	0	11	17					AA	115276368	GT	AA	115276367	3	1	154	1	0	0	0	0	1	0	0	0	3929	1261	44	2	1621	2	CSDE1	1	115276367	Missense_Mutation	DNP	GT	TCGA-DJ-A4UQ-01A-11D-A257-08	6033801	115276367	133974254	4	3189											
MFSD4	148808	broad.mit.edu	37	chr1	205554106	205554106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccctggtactgttcatgaCggatgggttgacggtgagcc	15	10	1	3			TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr1:205554106C>T	ENST00000367147.4	+	5	1055	c.962C>T	c.(961-963)aCg>aTg	p.T321M	MFSD4_ENST00000536357.1_Missense_Mutation_p.T234M|MFSD4_ENST00000539267.1_Missense_Mutation_p.T321M	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	321					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CTGTTCATGACGGATGGGTTG	0.587											OREG0014158	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367147.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(961-963)aCg>aTg		major facilitator superfamily domain containing 4							93	90	91					1																	205554106		2203	4300	6503	SO:0001583	missense	148808				transmembrane transport	integral to membrane		g.chr1:205554106C>T	BC036549	CCDS1455.1	1q32.1	2008-02-05			ENSG00000174514	ENSG00000174514			25433	protein-coding gene	gene with protein product							Standard	NM_181644		Approved	DKFZp761N1114, FLJ34577, UNQ3064, FLJ25004	uc001hcv.4	Q8N468	OTTHUMG00000037197	ENST00000367147.4:c.962C>T	1.37:g.205554106C>T	ENSP00000356115:p.Thr321Met		OREG0014158	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2153	MFSD4_ENST00000536357.1_Missense_Mutation_p.T234M|MFSD4_ENST00000539267.1_Missense_Mutation_p.T321M	p.T321M	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0908)		5	1055	+	Breast(84;0.07)		321					B7Z8X3|Q6UY25|Q8NAY0|Q8TCP4	Missense_Mutation	SNP	ENST00000367147.4	37	c.962C>T	CCDS1455.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288670	0.80914	.	.	ENSG00000174514	ENST00000367147;ENST00000539267;ENST00000536357	T;T;T	0.80909	0.37;0.37;-1.43	5.87	5.87	0.94306	Major facilitator superfamily domain, general substrate transporter (1);	0.044161	0.85682	D	0.000000	D	0.89924	0.6856	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.991;0.997	D	0.89697	0.3902	10	0.66056	D	0.02	-19.2058	19.1458	0.93467	0.0:1.0:0.0:0.0	.	266;234;321	B7Z8X0;B7Z8X3;Q8N468	.;.;MFSD4_HUMAN	M	321;321;234	ENSP00000356115:T321M;ENSP00000445329:T321M;ENSP00000440183:T234M	ENSP00000356115:T321M	T	+	2	0	MFSD4	203820729	1.000000	0.71417	0.991000	0.47740	0.983000	0.72400	4.444000	0.60001	2.941000	0.99782	0.655000	0.94253	ACG		0.587	MFSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090391.1	NM_181644		42	64	0	0	0	1	0	42	64					T	205554106	C	T	205554106	3	4	154	1	0	0	0	0	1	0	0	0	9533	536	19	1	980	1	MFSD4	1	205554106	Missense_Mutation	SNP	C	TCGA-DJ-A4UQ-01A-11D-A257-08	90277739	205554106	43696515	5	3190											
DNAJC5G	285126	broad.mit.edu	37	chr2	27501192	27501192	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgtccagagtcagcctcCaaggtcaggtgagaactgca	12	10	2	2			TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr2:27501192C>T	ENST00000296097.3	+	5	930	c.512C>T	c.(511-513)cCa>cTa	p.P171L	DNAJC5G_ENST00000404433.1_Missense_Mutation_p.P155L|DNAJC5G_ENST00000402462.1_Missense_Mutation_p.P171L|DNAJC5G_ENST00000406962.1_Nonsense_Mutation_p.Q84*	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	171						membrane (GO:0016020)				cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTCAGCCTCCAAGGTCAGGT	0.478																																						ENST00000406962.1																			0				cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10						c.(250-252)Caa>Taa		DnaJ (Hsp40) homolog, subfamily C, member 5 gamma							110	94	100					2																	27501192		2203	4300	6503	SO:0001583	missense	285126				protein folding	membrane	heat shock protein binding|unfolded protein binding	g.chr2:27501192C>T	AF368277	CCDS1744.1	2p23	2011-09-02			ENSG00000163793	ENSG00000163793		"Heat shock proteins / DNAJ (HSP40)"	24844	protein-coding gene	gene with protein product		613946					Standard	NM_173650		Approved	FLJ40417, CSP-gamma	uc002rjl.1	Q8N7S2	OTTHUMG00000097079	ENST00000296097.3:c.512C>T	2.37:g.27501192C>T	ENSP00000296097:p.Pro171Leu					DNAJC5G_ENST00000402462.1_Missense_Mutation_p.P171L|DNAJC5G_ENST00000296097.3_Missense_Mutation_p.P171L|DNAJC5G_ENST00000404433.1_Missense_Mutation_p.P155L	p.Q84*			Q8N7S2	DNJ5G_HUMAN			3	415	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		0			J.		B4DY29|Q53SY5|Q8IYQ4|Q96RJ8	Nonsense_Mutation	SNP	ENST00000296097.3	37	c.250C>T	CCDS1744.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.67|13.67	2.305346|2.305346	0.40795|0.40795	.|.	.|.	ENSG00000163793|ENSG00000163793	ENST00000296097;ENST00000402462;ENST00000404433|ENST00000406962	T;T;T|.	0.57273|.	1.31;1.31;0.41|.	5.47|5.47	1.28|1.28	0.21552|0.21552	.|.	4.627870|.	0.00678|.	N|.	0.000665|.	T|.	0.41488|.	0.1161|.	L|L	0.29908|0.29908	0.895|0.895	0.45995|0.45995	A|A	0.998808|0.998808	P|.	0.34462|.	0.454|.	B|.	0.24394|.	0.053|.	T|.	0.54417|.	-0.8297|.	9|.	0.66056|0.87932	D|D	0.02|0	.|.	9.4875|9.4875	0.38940|0.38940	0.1542:0.3964:0.4495:0.0|0.1542:0.3964:0.4495:0.0	.|.	171|.	Q8N7S2|.	DNJ5G_HUMAN|.	L|X	171;171;155|84	ENSP00000296097:P171L;ENSP00000384305:P171L;ENSP00000385829:P155L|.	ENSP00000296097:P171L|ENSP00000385533:Q84X	P|Q	+|+	2|1	0|0	DNAJC5G|DNAJC5G	27354696|27354696	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.044000|0.044000	0.14063|0.14063	-0.014000|-0.014000	0.12656|0.12656	0.241000|0.241000	0.21283|0.21283	0.609000|0.609000	0.83330|0.83330	CCA|CAA		0.478	DNAJC5G-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214200.1	NM_173650		13	19	0	0	0	1	0	13	19					T	27501192	C	T	27501192	3	4	154	1	0	0	0	0	1	0	0	0	4652	594	21	2	522	2	DNAJC5G	2	27501192	Missense_Mutation	SNP	C	TCGA-DJ-A4UQ-01A-11D-A257-08		27501192	215698181	6	3191											
STEAP3	55240	broad.mit.edu	37	chr2	120003514	120003514	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggtcaaggccttcaatGtcatctctgcctggaccctg	10	13	4	0			TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr2:120003514G>A	ENST00000354888.5	+	3	946	c.442G>A	c.(442-444)Gtc>Atc	p.V148I	STEAP3_ENST00000393106.2_Missense_Mutation_p.V148I|STEAP3_ENST00000393108.2_Missense_Mutation_p.V148I|STEAP3_ENST00000393110.2_Missense_Mutation_p.V158I|STEAP3_ENST00000425223.2_Missense_Mutation_p.V148I|STEAP3_ENST00000450943.2_Missense_Mutation_p.V148I|STEAP3_ENST00000409811.1_Missense_Mutation_p.V148I|STEAP3_ENST00000393107.2_Missense_Mutation_p.V148I|STEAP3-AS1_ENST00000454260.1_RNA	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	148					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cellular iron ion homeostasis (GO:0006879)|copper ion import (GO:0015677)|exosomal secretion (GO:1990182)|ferric iron import into cell (GO:0097461)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|protein secretion (GO:0009306)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						GGCCTTCAATGTCATCTCTGC	0.522																																						ENST00000354888.5																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						c.(442-444)Gtc>Atc		STEAP family member 3, metalloreductase							96	86	89					2																	120003514		2203	4300	6503	SO:0001583	missense	55240				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr2:120003514G>A	AY029585	CCDS2125.1, CCDS42738.1	2q14.2	2011-09-30	2011-09-30		ENSG00000115107	ENSG00000115107			24592	protein-coding gene	gene with protein product		609671				12606722	Standard	NM_182915		Approved	TSAP6, dudlin-2, STMP3	uc002tlr.3	Q658P3	OTTHUMG00000131402	ENST00000354888.5:c.442G>A	2.37:g.120003514G>A	ENSP00000346961:p.Val148Ile					STEAP3_ENST00000393107.2_Missense_Mutation_p.V148I|STEAP3_ENST00000450943.2_Missense_Mutation_p.V148I|STEAP3_ENST00000409811.1_Missense_Mutation_p.V148I|STEAP3_ENST00000425223.2_Missense_Mutation_p.V148I|STEAP3_ENST00000393110.2_Missense_Mutation_p.V158I|STEAP3_ENST00000393108.2_Missense_Mutation_p.V148I|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393106.2_Missense_Mutation_p.V148I	p.V148I	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN			3	946	+			148					A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5	Missense_Mutation	SNP	ENST00000354888.5	37	c.442G>A	CCDS2125.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.649815	0.87958	.	.	ENSG00000115107	ENST00000393108;ENST00000354888;ENST00000450943;ENST00000393110;ENST00000393106;ENST00000409811;ENST00000393107;ENST00000425223	T;T;T;T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3	5.2	5.2	0.72013	NAD(P)-binding domain (1);	0.143266	0.48286	D	0.000185	T	0.35068	0.0919	M	0.77103	2.36	0.34273	D	0.681191	P;P;B	0.49696	0.927;0.888;0.305	P;P;B	0.51193	0.662;0.63;0.139	T	0.49204	-0.8964	9	.	.	.	-51.6546	17.8995	0.88899	0.0:0.0:1.0:0.0	.	148;158;148	B8ZZX6;Q658P3-2;Q658P3	.;.;STEA3_HUMAN	I	148;148;148;158;148;148;148;148	ENSP00000376820:V148I;ENSP00000346961:V148I;ENSP00000396873:V148I;ENSP00000376822:V158I;ENSP00000376818:V148I;ENSP00000386510:V148I;ENSP00000376819:V148I;ENSP00000396214:V148I	.	V	+	1	0	STEAP3	119719984	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	5.291000	0.65667	2.693000	0.91896	0.655000	0.94253	GTC		0.522	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254193.1	NM_018234		30	61	0	0	0	1	0	30	61					A	120003514	G	A	120003514	3	1	154	1	0	0	0	0	1	0	0	0	15278	1377	48	2	478	2	STEAP3	2	120003514	Missense_Mutation	SNP	G	TCGA-DJ-A4UQ-01A-11D-A257-08	92502322	120003514	123195859	7	3192											
CCDC13	152206	broad.mit.edu	37	chr3	42799804	42799804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgccttgaactggagccGcaaagtgttctgtgagcttt	11	9	1	2	rs113601691	byFrequency	TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr3:42799804G>A	ENST00000310232.6	-	2	117	c.34C>T	c.(34-36)Cgg>Tgg	p.R12W	CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	12										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						AACTGGAGCCGCAAAGTGTTC	0.507													G|||	4	0.000798722	0.0023	0.0014	5008	,	,		19393	0		0	False		,,,				2504	0					ENST00000310232.6																			0				endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						c.(34-36)Cgg>Tgg		coiled-coil domain containing 13		G	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	142	117	125		34	-2.1	0.6	3	dbSNP_132	125	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CCDC13	NM_144719.3	101	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	probably-damaging	12/716	42799804	3,13003	2203	4300	6503	SO:0001583	missense	152206							g.chr3:42799804G>A	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.34C>T	3.37:g.42799804G>A	ENSP00000309836:p.Arg12Trp					CCDC13_ENST00000435327.2_5'UTR	p.R12W	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN			2	117	-			12						Missense_Mutation	SNP	ENST00000310232.6	37	c.34C>T	CCDS2705.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	16.80	3.222441	0.58668	4.54E-4	1.16E-4	ENSG00000244607	ENST00000310232	T	0.34275	1.37	4.82	-2.11	0.07187	.	0.118259	0.51477	D	0.000084	T	0.52208	0.1720	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.50039	-0.8874	10	0.72032	D	0.01	.	10.4536	0.44537	0.0755:0.0:0.2007:0.7238	.	12;12;12	B4DZD2;Q96LI1;Q8IYE1	.;.;CCD13_HUMAN	W	12	ENSP00000309836:R12W	ENSP00000309836:R12W	R	-	1	2	CCDC13	42774808	1.000000	0.71417	0.629000	0.29254	0.734000	0.41952	0.702000	0.25631	-0.708000	0.05015	0.563000	0.77884	CGG		0.507	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719		3	49	0	0	0	1	0	3	49					A	42799804	G	A	42799804	3	1	154	1	0	0	0	0	1	0	0	0	2765	1086	38	1	2173	1	CCDC13	3	42799804	Missense_Mutation	SNP	G	TCGA-DJ-A4UQ-01A-11D-A257-08		42799804	155222626	8	3193											
REST	5978	broad.mit.edu	37	chr4	57797761	57797761	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacctggtcttgctgctaatAtcaacgaatctacccatatt	5	11	3	0			TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr4:57797761A>G	ENST00000309042.7	+	4	3051	c.2737A>G	c.(2737-2739)Atc>Gtc	p.I913V		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	913					cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					TGCTGCTAATATCAACGAATC	0.413																																						ENST00000309042.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50						c.(2737-2739)Atc>Gtc		RE1-silencing transcription factor							67	68	68					4																	57797761		2202	4300	6502	SO:0001583	missense	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57797761A>G	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.2737A>G	4.37:g.57797761A>G	ENSP00000311816:p.Ile913Val						p.I913V	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN			4	3051	+	Glioma(25;0.08)|all_neural(26;0.181)		913					A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	c.2737A>G	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	A	0.097	-1.157343	0.01686	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.07021	3.23	5.23	-10.5	0.00291	.	3.207220	0.00868	N	0.001993	T	0.05547	0.0146	L	0.41236	1.265	0.09310	N	1	B;B	0.12013	0.005;0.0	B;B	0.06405	0.002;0.0	T	0.23261	-1.0193	10	0.37606	T	0.19	3.0944	1.3861	0.02240	0.141:0.1983:0.2897:0.3709	.	890;913	F8WAN5;Q13127	.;REST_HUMAN	V	913;890	ENSP00000311816:I913V	ENSP00000311816:I913V	I	+	1	0	REST	57492518	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.209000	0.03002	-3.388000	0.00173	-0.912000	0.02778	ATC		0.413	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		23	47	0	0	0	1	0	23	47					G	57797761	A	G	57797761	3	3	154	1	0	0	0	0	1	0	0	0	13234	449	16	3	2747	3	REST	4	57797761	Missense_Mutation	SNP	A	TCGA-DJ-A4UQ-01A-11D-A257-08		57797761	133356515	9	3194											
NSD1	64324	broad.mit.edu	37	chr5	176721621	176721621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcctctttgtcccagagaCtcccacctcctgagaaagta	7	14	1	2			TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr5:176721621C>T	ENST00000439151.2	+	23	7297	c.7252C>T	c.(7252-7254)Ctc>Ttc	p.L2418F	NSD1_ENST00000347982.4_Missense_Mutation_p.L2149F|NSD1_ENST00000354179.4_Missense_Mutation_p.L2149F|NSD1_ENST00000361032.4_Missense_Mutation_p.L2315F	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2418	Pro-rich.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		GTCCCAGAGACTCCCACCTCC	0.507			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(7252-7254)Ctc>Ttc		nuclear receptor binding SET domain protein 1							77	87	84					5																	176721621		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176721621C>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.7252C>T	5.37:g.176721621C>T	ENSP00000395929:p.Leu2418Phe	HNSCC(47;0.14)				NSD1_ENST00000361032.4_Missense_Mutation_p.L2315F|NSD1_ENST00000354179.4_Missense_Mutation_p.L2149F|NSD1_ENST00000347982.4_Missense_Mutation_p.L2149F	p.L2418F	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	23	7297	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	2418			Pro-rich.		Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.7252C>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650586	0.29336	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.95447	-3.63;-3.63;-3.63;-3.71	5.8	4.88	0.63580	.	0.230377	0.31031	N	0.008386	D	0.91580	0.7340	L	0.36672	1.1	0.32026	N	0.600183	B;B	0.11235	0.004;0.001	B;B	0.12156	0.007;0.003	D	0.90065	0.4159	10	0.72032	D	0.01	.	9.5774	0.39465	0.0:0.822:0.0:0.178	.	2149;2418	Q96L73-2;Q96L73	.;NSD1_HUMAN	F	2149;2418;2149;2315	ENSP00000346111:L2149F;ENSP00000395929:L2418F;ENSP00000343209:L2149F;ENSP00000354310:L2315F	ENSP00000343209:L2149F	L	+	1	0	NSD1	176654227	0.573000	0.26676	0.997000	0.53966	0.946000	0.59487	0.382000	0.20635	1.335000	0.45486	0.563000	0.77884	CTC		0.507	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		8	79	0	0	0	1	0	8	79					T	176721621	C	T	176721621	3	4	154	1	0	0	0	0	1	0	0	0	10669	565	20	2	7338	2	NSD1	5	176721621	Missense_Mutation	SNP	C	TCGA-DJ-A4UQ-01A-11D-A257-08		176721621	4193639	10	3195											
TNRC18	84629	broad.mit.edu	37	chr7	5434124	5434124	+	Frame_Shift_Del	DEL	G	G	-													tgggcaggttgctaggggttGgggagcggaaagacaggtca							TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr7:5434124delG	ENST00000430969.1	-	3	638	c.290delC	c.(289-291)ccafs	p.P97fs	TNRC18_ENST00000399434.2_Frame_Shift_Del_p.P23fs|TNRC18_ENST00000399537.4_Frame_Shift_Del_p.P97fs	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	97							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)		GCTAGGGGTTGGGGAGCGGAA	0.677																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(289-291)cafs		trinucleotide repeat containing 18							23	29	27					7																	5434124		2008	4146	6154	SO:0001589	frameshift_variant	84629						DNA binding	g.chr7:5434124delG	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.290delC	7.37:g.5434124delG	ENSP00000395538:p.Pro97fs					TNRC18_ENST00000399434.2_Frame_Shift_Del_p.P23fs|TNRC18_ENST00000430969.1_Frame_Shift_Del_p.P97fs	p.P97fs			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	3	638	-		Ovarian(82;0.142)	97					A8MX41|Q96JH1|Q96K91	Frame_Shift_Del	DEL	ENST00000430969.1	37	c.290delC	CCDS47534.1																																																																																				0.677	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				2	4						2	4	---	---	---	---	-	5434124	G	-	5434124	7	5	154	1	0	1	0	1	0	0	0	0	16336	1348	47	0	8728	0	TNRC18	7	5434124	Frame_Shift_Del	DEL	G	TCGA-DJ-A4UQ-01A-11D-A257-08		5434124	153704539	11	3196											
PTPRZ1	5803	broad.mit.edu	37	chr7	121651553	121651553	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcttcctatgatggtgcacCtttgcttccattttcctctg	7	12	2	1			TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr7:121651553C>A	ENST00000393386.2	+	12	2864	c.2453C>A	c.(2452-2454)cCt>cAt	p.P818H	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	818					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.P818L(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GATGGTGCACCTTTGCTTCCA	0.458																																						ENST00000393386.2																			2	Substitution - Missense(2)	p.P818L(2)	endometrium(2)	NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(2452-2454)cCt>cAt		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							260	213	229					7																	121651553		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121651553C>A	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.2453C>A	7.37:g.121651553C>A	ENSP00000377047:p.Pro818His					PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	p.P818H	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			12	2864	+			818					A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.2453C>A	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.372695	0.61624	.	.	ENSG00000106278	ENST00000393386	T	0.48522	0.81	5.53	5.53	0.82687	.	0.238045	0.36555	N	0.002524	T	0.70245	0.3202	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71984	-0.4427	10	0.87932	D	0	.	19.8479	0.96722	0.0:1.0:0.0:0.0	.	818	P23471	PTPRZ_HUMAN	H	818	ENSP00000377047:P818H	ENSP00000377047:P818H	P	+	2	0	PTPRZ1	121438789	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.914000	0.48797	2.774000	0.95407	0.650000	0.86243	CCT		0.458	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		61	124	1	0	2.5401e-28	1	2.8147e-28	61	124					A	121651553	C	A	121651553	3	1	154	1	0	0	0	0	1	0	0	0	12814	681	24	4	2499	4	PTPRZ1	7	121651553	Missense_Mutation	SNP	C	TCGA-DJ-A4UQ-01A-11D-A257-08	116217429	121651553	37487110	12	3197											
GIMAP5	55340	broad.mit.edu	37	chr7	150439701	150439701	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaaagaggacttagggggCcaggccctggatgactatgt	14	9	0	2			TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr7:150439701C>T	ENST00000358647.3	+	3	841	c.474C>T	c.(472-474)ggC>ggT	p.G158G	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	158	AIG1-type G.				myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell activation (GO:0050868)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of membrane potential (GO:0045838)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of mitochondrial membrane permeability (GO:0046902)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|temperature homeostasis (GO:0001659)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACTTAGGGGGCCAGGCCCTGG	0.552																																						ENST00000358647.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19						c.(472-474)ggC>ggT		GTPase, IMAP family member 5							103	98	100					7																	150439701		2203	4300	6503	SO:0001819	synonymous_variant	55340							g.chr7:150439701C>T	AK002158	CCDS5907.1	7q36.1	2014-04-04	2004-10-29	2004-10-30	ENSG00000196329	ENSG00000196329		"GTPases, IMAP"	18005	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 5"	608086	"immune associated nucleotide 4 like 1 (mouse)"	IAN4L1			Standard	NM_018384		Approved	HIMAP3, IAN5		Q96F15	OTTHUMG00000157542	ENST00000358647.3:c.474C>T	7.37:g.150439701C>T						GIMAP5_ENST00000479556.1_3'UTR	p.G158G	NM_018384.4	NP_060854.2			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	841	+								D3DWZ5|Q6IA75|Q96NE4|Q9NUK9	Silent	SNP	ENST00000358647.3	37	c.474C>T	CCDS5907.1																																																																																				0.552	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349108.2	NM_018384		49	82	0	0	0	1	0	49	82					T	150439701	C	T	150439701	2	4	154	1	0	0	0	0	0	0	0	1	6382	726	26	2		2	GIMAP5	7	150439701	Silent	SNP	C	TCGA-DJ-A4UQ-01A-11D-A257-08	28788148	150439701	8698962	13	3198											
EPB49	2039	broad.mit.edu	37	chr8	21925135	21925135	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcggcccgacctcatgatctAcgagcctcacttcacttatt	7	15	4	1			TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr8:21925135A>T	ENST00000523266.1	+	4	653	c.191A>T	c.(190-192)tAc>tTc	p.Y64F	DMTN_ENST00000517600.1_Missense_Mutation_p.Y39F|DMTN_ENST00000443491.2_Missense_Mutation_p.Y39F|DMTN_ENST00000519907.1_Missense_Mutation_p.Y64F|DMTN_ENST00000415253.1_Missense_Mutation_p.Y64F|DMTN_ENST00000523782.2_Missense_Mutation_p.Y39F|DMTN_ENST00000432128.1_Missense_Mutation_p.Y64F|DMTN_ENST00000265800.5_Missense_Mutation_p.Y64F|DMTN_ENST00000358242.3_Missense_Mutation_p.Y64F|DMTN_ENST00000381470.3_Missense_Mutation_p.Y64F	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	64					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)										CTCATGATCTACGAGCCTCAC	0.637																																						ENST00000358242.3																			0											c.(190-192)tAc>tTc		dematin actin binding protein							118	107	111					8																	21925135		2203	4300	6503	SO:0001583	missense	2039							g.chr8:21925135A>T	U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"erythrocyte membrane protein band 4.9 (dematin)"	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.191A>T	8.37:g.21925135A>T	ENSP00000427866:p.Tyr64Phe					DMTN_ENST00000443491.2_Missense_Mutation_p.Y39F|DMTN_ENST00000517600.1_Missense_Mutation_p.Y39F|DMTN_ENST00000432128.1_Missense_Mutation_p.Y64F|DMTN_ENST00000523266.1_Missense_Mutation_p.Y64F|DMTN_ENST00000415253.1_Missense_Mutation_p.Y64F|DMTN_ENST00000381470.3_Missense_Mutation_p.Y64F|DMTN_ENST00000265800.5_Missense_Mutation_p.Y64F|DMTN_ENST00000519907.1_Missense_Mutation_p.Y64F|DMTN_ENST00000523782.2_Missense_Mutation_p.Y39F	p.Y64F							4	684	+								A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Missense_Mutation	SNP	ENST00000523266.1	37	c.191A>T	CCDS6020.1	.	.	.	.	.	.	.	.	.	.	A	35	5.432095	0.96150	.	.	ENSG00000158856	ENST00000522148;ENST00000523300;ENST00000519850;ENST00000381470;ENST00000432128;ENST00000443491;ENST00000517600;ENST00000541895;ENST00000523623;ENST00000520174;ENST00000517804;ENST00000265800;ENST00000381455;ENST00000517418;ENST00000358242;ENST00000415253;ENST00000523266;ENST00000519907	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32	5.41	5.41	0.78517	.	0.389175	0.26571	N	0.023622	T	0.74741	0.3756	M	0.76574	2.34	0.54753	D	0.999985	D;D;D;D;D;D	0.76494	0.997;0.997;0.997;0.993;0.999;0.996	D;D;D;D;D;D	0.78314	0.97;0.97;0.97;0.978;0.991;0.98	T	0.77905	-0.2413	10	0.72032	D	0.01	.	13.4012	0.60883	1.0:0.0:0.0:0.0	.	3;39;64;39;39;64	E9PD40;B4DI75;Q08495;B3KRH3;E9PEJ0;Q08495-2	.;.;DEMA_HUMAN;.;.;.	F	39;39;64;64;64;39;39;39;39;39;64;64;3;64;64;64;64;64	ENSP00000428063:Y39F;ENSP00000429116:Y39F;ENSP00000430600:Y64F;ENSP00000370879:Y64F;ENSP00000416111:Y64F;ENSP00000397904:Y39F;ENSP00000430618:Y39F;ENSP00000428733:Y39F;ENSP00000430382:Y39F;ENSP00000428415:Y64F;ENSP00000265800:Y64F;ENSP00000429948:Y64F;ENSP00000350977:Y64F;ENSP00000401291:Y64F;ENSP00000427866:Y64F;ENSP00000429377:Y64F	ENSP00000265800:Y64F	Y	+	2	0	EPB49	21981081	1.000000	0.71417	0.947000	0.38551	0.929000	0.56500	9.238000	0.95380	2.058000	0.61347	0.459000	0.35465	TAC		0.637	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375178.1	NM_001978		13	63	0	0	0	1	0	13	63					T	21925135	A	T	21925135	3	4	154	1	0	0	0	0	1	0	0	0	5159	391	14	5	201	5	EPB49	8	21925135	Missense_Mutation	SNP	A	TCGA-DJ-A4UQ-01A-11D-A257-08		21925135	124438887	14	3199											
FAM75A6	389730	broad.mit.edu	37	chr9	43627394	43627394	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagacctgtcagttacccaGgcgttagccaccagggactc	10	13	1	1	rs201562289	byFrequency	TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr9:43627394G>A	ENST00000332857.6	-	4	1321	c.1293C>T	c.(1291-1293)gcC>gcT	p.A431A	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	431					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.A431A(1)									CAGTTACCCAGGCGTTAGCCA	0.488													G|||	15	0.00299521	8e-04	0	5008	,	,		15035	0.0139		0	False		,,,				2504	0					ENST00000332857.6																			1	Substitution - coding silent(1)	p.A431A(1)	stomach(1)								c.(1291-1293)gcC>gcT		SPATA31 subfamily A, member 6							12	14	13					9																	43627394		612	1519	2131	SO:0001819	synonymous_variant	389730							g.chr9:43627394G>A		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A6"	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1293C>T	9.37:g.43627394G>A							p.A431A	NM_001145196.1	NP_001138668.1					4	1321	-									Silent	SNP	ENST00000332857.6	37	c.1293C>T	CCDS47973.1																																																																																				0.488	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		6	149	0	0	0	1	0	6	149					A	43627394	G	A	43627394	2	1	154	1	0	0	0	0	0	0	0	1	5622	987	35	2		2	FAM75A6	9	43627394	Silent	SNP	G	TCGA-DJ-A4UQ-01A-11D-A257-08		43627394	97586037	15	3200											
PGM5	5239	broad.mit.edu	37	chr9	71098922	71098922	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggcgaagacggatagtttTgaatacgtggaccctgtgga	15	6	0	2	rs377710211	byFrequency	TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr9:71098922T>C	ENST00000396396.1	+	9	1666	c.1437T>C	c.(1435-1437)ttT>ttC	p.F479F		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	479					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						CGGATAGTTTTGAATACGTGG	0.517													T|||	4	0.000798722	0	0	5008	,	,		20559	0.004		0	False		,,,				2504	0					ENST00000396396.1																			0				endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						c.(1435-1437)ttT>ttC		phosphoglucomutase 5							166	140	149					9																	71098922		2203	4300	6503	SO:0001819	synonymous_variant	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:71098922T>C	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"phosphoglucomutase-related protein"	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1437T>C	9.37:g.71098922T>C							p.F479F	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN			9	1666	+			479					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Silent	SNP	ENST00000396396.1	37	c.1437T>C	CCDS6622.2																																																																																				0.517	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		4	91	0	0	0	1	0	4	91					C	71098922	T	C	71098922	2	2	154	1	0	0	0	0	0	0	0	1	11801	1809	63	3		3	PGM5	9	71098922	Silent	SNP	T	TCGA-DJ-A4UQ-01A-11D-A257-08	27471528	71098922	70114509	16	3201											
TBCEL	219899	broad.mit.edu	37	chr11	120916496	120916496	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtggcccggggatgggagtcCatgtcccagccacacctcag	14	14	1	0			TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr11:120916496C>A	ENST00000529397.1	+	2	197	c.97C>A	c.(97-99)Cat>Aat	p.H33N	TBCEL_ENST00000422003.2_Missense_Mutation_p.H33N	NM_001130047.1	NP_001123519.1	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	33						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		GATGGGAGTCCATGTCCCAGC	0.428																																						ENST00000422003.2																		TECTA/TBCEL(2)	0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(97-99)Cat>Aat		tubulin folding cofactor E-like							37	44	42					11																	120916496		2203	4297	6500	SO:0001583	missense	219899					cytoplasm|cytoskeleton		g.chr11:120916496C>A	BC020501	CCDS31692.1	11q23.3	2008-02-05	2006-11-21	2006-11-21		ENSG00000154114			28115	protein-coding gene	gene with protein product		610451	"leucine rich repeat containing 35", "tubulin-specific chaperone e-like"	LRRC35		15728251	Standard	NM_152715		Approved	MGC10233	uc001pxo.3	Q5QJ74		ENST00000529397.1:c.97C>A	11.37:g.120916496C>A	ENSP00000437184:p.His33Asn					TBCEL_ENST00000529397.1_Missense_Mutation_p.H33N	p.H33N	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)	2	285	+		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)	33					Q0VAN6	Missense_Mutation	SNP	ENST00000529397.1	37	c.97C>A	CCDS31692.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.836525	0.50951	.	.	ENSG00000154114	ENST00000529397;ENST00000528512;ENST00000422003;ENST00000524726	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.61	5.61	0.85477	.	0.107662	0.64402	D	0.000007	T	0.27169	0.0666	N	0.19112	0.55	0.40654	D	0.98206	P	0.42296	0.775	B	0.28553	0.091	T	0.09997	-1.0649	10	0.36615	T	0.2	-7.0219	19.6408	0.95757	0.0:1.0:0.0:0.0	.	33	Q5QJ74	TBCEL_HUMAN	N	33	ENSP00000437184:H33N;ENSP00000431803:H33N;ENSP00000403925:H33N;ENSP00000432783:H33N	ENSP00000284259:H33N	H	+	1	0	TBCEL	120421706	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.946000	0.63576	2.643000	0.89663	0.650000	0.86243	CAT		0.428	TBCEL-005	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387688.1	NM_152715		8	46	1	0	7.48243e-07	1	7.86614e-07	8	46					A	120916496	C	A	120916496	3	1	154	1	0	0	0	0	1	0	0	0	15632	594	21	4	99	4	TBCEL	11	120916496	Missense_Mutation	SNP	C	TCGA-DJ-A4UQ-01A-11D-A257-08		120916496	14090020	17	3202											
SLC39A2	29986	broad.mit.edu	37	chr14	21469359	21469359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgaagggctagctgtggGgctgcagccgacagtagcag	17	8	0	1			TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr14:21469359G>A	ENST00000298681.4	+	4	708	c.551G>A	c.(550-552)gGg>gAg	p.G184E	SLC39A2_ENST00000554422.1_3'UTR|RP11-84C10.4_ENST00000557335.1_RNA	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter), member 2	184					transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		CTAGCTGTGGGGCTGCAGCCG	0.557																																						ENST00000298681.4																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14						c.(550-552)gGg>gAg		solute carrier family 39 (zinc transporter), member 2							113	96	101					14																	21469359		2203	4300	6503	SO:0001583	missense	29986					cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity	g.chr14:21469359G>A	AF186081	CCDS9563.1, CCDS58303.1	14q11.1	2013-05-22			ENSG00000165794	ENSG00000165794		"Solute carriers"	17127	protein-coding gene	gene with protein product		612166				10681536, 7751801	Standard	NM_014579		Approved	ZIP2	uc001vyr.3	Q9NP94	OTTHUMG00000029616	ENST00000298681.4:c.551G>A	14.37:g.21469359G>A	ENSP00000298681:p.Gly184Glu					SLC39A2_ENST00000554422.1_3'UTR	p.G184E	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)	4	708	+	all_cancers(95;0.00267)		184					B2RC76|G3V5X2|Q4QQJ1|Q4V9S4|Q96JT6|Q9UD20	Missense_Mutation	SNP	ENST00000298681.4	37	c.551G>A	CCDS9563.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.945254	0.92593	.	.	ENSG00000165794	ENST00000298681	T	0.72835	-0.69	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.88085	0.6342	M	0.92970	3.365	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90447	0.4436	10	0.87932	D	0	-15.0911	17.3289	0.87257	0.0:0.0:1.0:0.0	.	184	Q9NP94	S39A2_HUMAN	E	184	ENSP00000298681:G184E	ENSP00000298681:G184E	G	+	2	0	SLC39A2	20539199	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.608000	0.90895	2.687000	0.91594	0.655000	0.94253	GGG		0.557	SLC39A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073829.2	NM_014579		31	52	0	0	0	1	0	31	52					A	21469359	G	A	21469359	3	1	154	1	0	0	0	0	1	0	0	0	14618	1232	43	2	565	2	SLC39A2	14	21469359	Missense_Mutation	SNP	G	TCGA-DJ-A4UQ-01A-11D-A257-08		21469359	85880181	18	3203											
KLHDC2	23588	broad.mit.edu	37	chr14	50244662	50244662	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaacttggtgtctgggtaTataaaaacaagtaagttggc	10	5	1	0	rs148686027	byFrequency	TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr14:50244662T>C	ENST00000298307.5	+	4	1318	c.457T>C	c.(457-459)Tat>Cat	p.Y153H	KLHDC2_ENST00000557247.1_Missense_Mutation_p.Y153H|KLHDC2_ENST00000553538.1_3'UTR|KLHDC2_ENST00000554589.1_Missense_Mutation_p.Y153H	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	153						nucleus (GO:0005634)				endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					TGTCTGGGTATATAAAAACAA	0.403													T|||	20	0.00399361	0	0	5008	,	,		19174	0.0198		0	False		,,,				2504	0					ENST00000298307.5																			0				endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(457-459)Tat>Cat		kelch domain containing 2							105	100	102					14																	50244662		2203	4300	6503	SO:0001583	missense	23588					nucleus	protein binding	g.chr14:50244662T>C	AK001771	CCDS9693.1	14q21.3	2003-01-15			ENSG00000165516	ENSG00000165516			20231	protein-coding gene	gene with protein product		611280				11384994	Standard	NM_014315		Approved	HCLP-1, LCP	uc001wwx.3	Q9Y2U9	OTTHUMG00000140288	ENST00000298307.5:c.457T>C	14.37:g.50244662T>C	ENSP00000298307:p.Tyr153His					KLHDC2_ENST00000553538.1_3'UTR|KLHDC2_ENST00000557247.1_Missense_Mutation_p.Y153H|KLHDC2_ENST00000554589.1_Missense_Mutation_p.Y153H	p.Y153H	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN			4	1318	+	all_epithelial(31;0.000959)|Breast(41;0.0117)		153					B3KPF9|Q6IAF0|Q86TY9	Missense_Mutation	SNP	ENST00000298307.5	37	c.457T>C	CCDS9693.1	10	0.004578754578754579	0	0.0	0	0.0	10	0.017482517482517484	0	0.0	T	12.86	2.065761	0.36470	.	.	ENSG00000165516	ENST00000298307;ENST00000554589;ENST00000557247	T;T;T	0.67171	-0.25;-0.25;-0.25	5.74	5.74	0.90152	Kelch-type beta propeller (1);	0.058083	0.64402	D	0.000001	T	0.33847	0.0877	N	0.16037	0.36	0.49915	D	0.999837	B;B;B	0.14012	0.009;0.005;0.003	B;B;B	0.17979	0.02;0.011;0.001	T	0.35450	-0.9788	10	0.21540	T	0.41	-22.1666	15.2194	0.73299	0.0:0.0:0.0:1.0	.	153;153;153	G3V2H2;G3V3U8;Q9Y2U9	.;.;KLDC2_HUMAN	H	153	ENSP00000298307:Y153H;ENSP00000451439:Y153H;ENSP00000450658:Y153H	ENSP00000298307:Y153H	Y	+	1	0	KLHDC2	49314412	0.997000	0.39634	0.997000	0.53966	0.996000	0.88848	2.938000	0.48987	2.194000	0.70268	0.533000	0.62120	TAT		0.403	KLHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276869.1			5	53	0	0	0	1	0	5	53					C	50244662	T	C	50244662	3	2	154	1	0	0	0	0	1	0	0	0	8356	1406	49	3	471	3	KLHDC2	14	50244662	Missense_Mutation	SNP	T	TCGA-DJ-A4UQ-01A-11D-A257-08	28775303	50244662	57104878	19	3204											
ACSM2B	348158	broad.mit.edu	37	chr16	20570580	20570580	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctcgaatgcagcccaggaTcaccagccaccactcaggca	9	16	2	0			TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr16:20570580T>C	ENST00000329697.6	-	3	535	c.367A>G	c.(367-369)Atc>Gtc	p.I123V	ACSM2B_ENST00000565232.1_Missense_Mutation_p.I123V|ACSM2B_ENST00000565322.1_Missense_Mutation_p.I44V|ACSM2B_ENST00000567001.1_Missense_Mutation_p.I123V|ACSM2B_ENST00000414188.2_Missense_Mutation_p.I123V	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	123					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CAGCCCAGGATCACCAGCCAC	0.577																																						ENST00000329697.6																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(367-369)Atc>Gtc		acyl-CoA synthetase medium-chain family member 2B							42	36	38					16																	20570580		2201	4299	6500	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20570580T>C	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"Acyl-CoA synthetase family"	30931	protein-coding gene	gene with protein product	"xenobiotic/medium chain fatty acid:CoA ligase"	614359	"acyl-CoA synthetase medium-chain family member 2"	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.367A>G	16.37:g.20570580T>C	ENSP00000327453:p.Ile123Val					ACSM2B_ENST00000565232.1_Missense_Mutation_p.I123V|ACSM2B_ENST00000414188.2_Missense_Mutation_p.I123V|ACSM2B_ENST00000565322.1_Missense_Mutation_p.I44V|ACSM2B_ENST00000567001.1_Missense_Mutation_p.I123V	p.I123V	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN			3	535	-			123					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.367A>G	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	T	0.273	-0.991596	0.02162	.	.	ENSG00000066813	ENST00000329697;ENST00000414188	T;T	0.42900	0.96;0.96	3.51	2.37	0.29283	AMP-dependent synthetase/ligase (1);	0.851319	0.10016	N	0.726655	T	0.22742	0.0549	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.19516	-1.0303	10	0.12430	T	0.62	-1.6411	7.9835	0.30198	0.0:0.1072:0.0:0.8928	.	123;123	A8K051;Q68CK6	.;ACS2B_HUMAN	V	123	ENSP00000327453:I123V;ENSP00000390378:I123V	ENSP00000327453:I123V	I	-	1	0	ACSM2B	20478081	0.397000	0.25270	0.595000	0.28798	0.118000	0.20060	1.414000	0.34736	1.465000	0.48006	0.496000	0.49642	ATC		0.577	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		3	27	0	0	0	1	0	3	27					C	20570580	T	C	20570580	3	2	154	1	0	0	0	0	1	0	0	0	184	1435	50	3	1414	3	ACSM2B	16	20570580	Missense_Mutation	SNP	T	TCGA-DJ-A4UQ-01A-11D-A257-08		20570580	69784173	20	3205											
LOC100132247	100132247	broad.mit.edu	37	chr16	22545540	22545558	+	Frame_Shift_Del	DEL	CGAGCGTCTGCGGGGGCCG	CGAGCGTCTGCGGGGGCCG	-													gataatatcaagacacctgcCgagcgtctgcgggggccgct					rs369022450		TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr16:22545540_22545558delCGAGCGTCTGCGGGGGCCG	ENST00000517539.1	+	8	1311_1329	c.1236_1254delCGAGCGTCTGCGGGGGCCG	c.(1234-1254)gccgagcgtctgcgggggccgfs	p.AERLRGP412fs	NPIPB5_ENST00000424340.1_Frame_Shift_Del_p.AERLRGP412fs|NPIPB5_ENST00000415654.1_3'UTR			A8MRT5	NPIB5_HUMAN	nuclear pore complex interacting protein family, member B5	412	Pro-rich.					integral component of membrane (GO:0016021)											AGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCT	0.562																																						ENST00000424340.1																			0											c.(1234-1254)gcfs		nuclear pore complex interacting protein family, member B5																																				SO:0001589	frameshift_variant	100132247							g.chr16:22545540_22545558delCGAGCGTCTGCGGGGGCCG		CCDS45443.1	16p12.2	2013-06-11			ENSG00000243716	ENSG00000243716			37233	protein-coding gene	gene with protein product							Standard	NM_001135865		Approved			A8MRT5	OTTHUMG00000163573	ENST00000517539.1:c.1236_1254delCGAGCGTCTGCGGGGGCCG	16.37:g.22545540_22545558delCGAGCGTCTGCGGGGGCCG	ENSP00000430633:p.Ala412fs					NPIPB5_ENST00000517539.1_Frame_Shift_Del_p.AERLRGP412fs|NPIPB5_ENST00000415654.1_3'UTR	p.AERLRGP412fs	NM_001135865.1	NP_001129337.1					7	1515_1533	+								B4DK13	Frame_Shift_Del	DEL	ENST00000517539.1	37	c.1236_1254delCGAGCGTCTGCGGGGGCCG	CCDS45443.1																																																																																				0.562	NPIPB5-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374343.2	NM_001135865		4	8						4	8	---	---	---	---	-	22545558	CGAGCGTCTGCGGGGGCCG	-	22545540	7	5	154	1	0	1	0	1	0	0	0	0	8868	639	23	0	1262	0	LOC100132247	16	22545540	Frame_Shift_Del	DEL	CGAGCGTCTGCGGGGGCCG	TCGA-DJ-A4UQ-01A-11D-A257-08	1974960	22545540	67809213	21	3206											
CPD	1362	broad.mit.edu	37	chr17	28712043	28712043	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatctgcatggtggctcagtGgtagcaagctatccttttga	11	8	2	1			TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr17:28712043G>T	ENST00000225719.4	+	2	859	c.783G>T	c.(781-783)gtG>gtT	p.V261V	CPD_ENST00000543464.2_Silent_p.V14V	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	261	Carboxypeptidase-like 1.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GTGGCTCAGTGGTAGCAAGCT	0.368																																						ENST00000225719.4																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						c.(781-783)gtG>gtT		carboxypeptidase D							172	174	173					17																	28712043		2203	4300	6503	SO:0001819	synonymous_variant	1362				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	g.chr17:28712043G>T	U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"metallocarboxypeptidase D"	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.783G>T	17.37:g.28712043G>T						CPD_ENST00000543464.2_Silent_p.V14V	p.V261V	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN			2	859	+			261			Carboxypeptidase-like 1.		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Silent	SNP	ENST00000225719.4	37	c.783G>T	CCDS11257.1																																																																																				0.368	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304		40	152	1	0	7.63091e-17	1	8.23335e-17	40	152					T	28712043	G	T	28712043	2	4	154	1	0	0	0	0	0	0	0	1	3798	1335	47	4		4	CPD	17	28712043	Silent	SNP	G	TCGA-DJ-A4UQ-01A-11D-A257-08		28712043	52483167	22	3207											
FOXK2	3607	broad.mit.edu	37	chr17	80529730	80529730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatccctactacaggactgCggacaagggctggcaggtaa	12	10	0	0			TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr17:80529730C>T	ENST00000335255.5	+	4	1067	c.893C>T	c.(892-894)gCg>gTg	p.A298V		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	298					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)			TACAGGACTGCGGACAAGGGC	0.488																																						ENST00000335255.5																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17						c.(892-894)gCg>gTg		forkhead box K2							61	55	57					17																	80529730		2203	4300	6503	SO:0001583	missense	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.chr17:80529730C>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.893C>T	17.37:g.80529730C>T	ENSP00000335677:p.Ala298Val						p.A298V	NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)		4	1067	+	Breast(20;0.00106)|all_neural(118;0.0952)		298					A6NEP5|Q13622|Q13623|Q13624	Missense_Mutation	SNP	ENST00000335255.5	37	c.893C>T	CCDS11813.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719891	0.68844	.	.	ENSG00000141568	ENST00000535184;ENST00000335255;ENST00000335241;ENST00000531030;ENST00000526383	D;D;D	0.95690	-3.78;-3.78;-3.78	5.76	5.76	0.90799	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.96466	0.8847	M	0.76938	2.355	0.80722	D	1	D;P;B	0.58970	0.984;0.466;0.411	P;B;B	0.49047	0.599;0.087;0.064	D	0.96644	0.9476	10	0.72032	D	0.01	.	19.9618	0.97254	0.0:1.0:0.0:0.0	.	298;298;298	Q01167-3;Q01167;Q01167-2	.;FOXK2_HUMAN;.	V	294;298;298;109;178	ENSP00000335677:A298V;ENSP00000433167:A109V;ENSP00000432663:A178V	ENSP00000334321:A298V	A	+	2	0	FOXK2	78123019	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.870000	0.69620	2.722000	0.93159	0.650000	0.86243	GCG		0.488	FOXK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277099.2	NM_181430		13	23	0	0	0	1	0	13	23					T	80529730	C	T	80529730	3	4	154	1	0	0	0	0	1	0	0	0	6015	768	27	1	907	1	FOXK2	17	80529730	Missense_Mutation	SNP	C	TCGA-DJ-A4UQ-01A-11D-A257-08	51817687	80529730	665480	23	3208											
COL8A2	1296	broad.mit.edu	37	chr1	36563947	36563947	+	Frame_Shift_Del	DEL	C	C	-													agccccaagtcacctttctgCcccagggctcctgccacccc							TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chr1:36563947delC	ENST00000397799.1	-	4	1559	c.1335delG	c.(1333-1335)gggfs	p.G445fs	COL8A2_ENST00000481785.1_Frame_Shift_Del_p.G380fs|COL8A2_ENST00000303143.4_Frame_Shift_Del_p.G445fs			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	445	Triple-helical region.				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACCTTTCTGCCCCAGGGCTC	0.692																																						ENST00000397799.1																			0				NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1333-1335)ggfs		collagen, type VIII, alpha 2							4	5	5					1																	36563947		2096	4133	6229	SO:0001589	frameshift_variant	1296				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr1:36563947delC	M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"Collagens"	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.1335delG	1.37:g.36563947delC	ENSP00000380901:p.Gly445fs					COL8A2_ENST00000481785.1_Frame_Shift_Del_p.G380fs|COL8A2_ENST00000303143.4_Frame_Shift_Del_p.G445fs	p.G445fs			P25067	CO8A2_HUMAN			4	1559	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	445			Triple-helical region.		Q5JV31|Q8TEJ5	Frame_Shift_Del	DEL	ENST00000397799.1	37	c.1335delG	CCDS403.1																																																																																				0.692	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	NM_005202		2	4						2	4	---	---	---	---	-	36563947	C	-	36563947	7	5	155	1	0	1	0	1	0	0	0	0	3706	726	26	0	780	0	COL8A2	1	36563947	Frame_Shift_Del	DEL	C	TCGA-DJ-A4UR-01A-11D-A257-08		36563947	212686674	1	3209											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290	byFrequency	TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		neuroblastoma RAS viral (v-ras) oncogene homolog							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		55	92	0	0	0	1	0	55	92					C	115256529	T	C	115256529	3	2	155	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-DJ-A4UR-01A-11D-A257-08	78692582	115256529	133994092	2	3210											
ANO7	50636	broad.mit.edu	37	chr2	242135327	242135327	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgacccatgaccttgccGcatgaggcctgagggcatgg	14	12	0	4			TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chr2:242135327G>A	ENST00000274979.8	+	4	574				ANO7_ENST00000402530.3_Missense_Mutation_p.A179T|ANO7_ENST00000402430.3_Intron	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7						calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						TGACCTTGCCGCATGAGGCCT	0.632																																						ENST00000402530.3																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						c.(535-537)Gca>Aca		anoctamin 7							60	58	59					2																	242135327		1327	2309	3636	SO:0001627	intron_variant	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242135327G>A	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	31677	protein-coding gene	gene with protein product		605096	"transmembrane protein 16G"	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.471+67G>A	2.37:g.242135327G>A						ANO7_ENST00000274979.8_Intron|ANO7_ENST00000402430.3_Intron	p.A179T	NM_001001666.3	NP_001001666.1	Q6IWH7	ANO7_HUMAN			4	638	+			0					Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	c.535G>A	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	G	2.096	-0.407212	0.04832	.	.	ENSG00000146205	ENST00000402530	T	0.50277	0.75	1.11	-0.958	0.10347	.	.	.	.	.	T	0.26521	0.0648	.	.	.	0.09310	N	1	P	0.34826	0.471	B	0.16722	0.016	T	0.12708	-1.0537	8	0.87932	D	0	.	3.1367	0.06441	0.2871:0.4105:0.3024:0.0	.	179	Q6IWH7-2	.	T	179	ENSP00000383985:A179T	ENSP00000383985:A179T	A	+	1	0	ANO7	241784000	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.449000	0.02392	-0.382000	0.07870	-1.545000	0.00906	GCA		0.632	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		3	36	0	0	0	1	0	3	36					A	242135327	G	A	242135327	1	1	155	0	1	0	0	0	0	0	0	0	702	1087	38	1		1	ANO7	2	242135327	Intron	SNP	G	TCGA-DJ-A4UR-01A-11D-A257-08		242135327	1064046	3	3211											
FYCO1	79443	broad.mit.edu	37	chr3	46008279	46008279	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcagtgccccttcacgctcCgagcattgcagcagctcctg	10	16	1	0			TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chr3:46008279C>A	ENST00000296137.2	-	8	2752	c.2547G>T	c.(2545-2547)tcG>tcT	p.S849S	FYCO1_ENST00000535325.1_Silent_p.S849S	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	849					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTTCACGCTCCGAGCATTGCA	0.627																																						ENST00000296137.2																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(2545-2547)tcG>tcT		FYVE and coiled-coil domain containing 1							46	45	46					3																	46008279		2203	4300	6503	SO:0001819	synonymous_variant	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46008279C>A	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"Zinc fingers, FYVE domain containing"	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.2547G>T	3.37:g.46008279C>A						FYCO1_ENST00000535325.1_Silent_p.S849S	p.S849S	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	8	2752	-			849					B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Silent	SNP	ENST00000296137.2	37	c.2547G>T	CCDS2734.1																																																																																				0.627	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		8	27	1	0	0.000157383	1	0.000166641	8	27					A	46008279	C	A	46008279	2	1	155	1	0	0	0	0	0	0	0	1	6125	639	23	4		4	FYCO1	3	46008279	Silent	SNP	C	TCGA-DJ-A4UR-01A-11D-A257-08		46008279	152014151	4	3212											
LPP	4026	broad.mit.edu	37	chr3	188426084	188426084	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagggcaactggggccttcGtcagttgccccttcattccg	11	14	3	0	rs149905073	byFrequency	TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chr3:188426084G>A	ENST00000312675.4	+	7	1389	c.1143G>A	c.(1141-1143)tcG>tcA	p.S381S	LPP_ENST00000543006.1_Silent_p.S381S|LPP_ENST00000448637.1_Silent_p.S381S|LPP_ENST00000471917.1_3'UTR	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	381					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TGGGGCCTTCGTCAGTTGCCC	0.507			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"								G|||	14	0.00279553	0	0	5008	,	,		19151	0		0.008	False		,,,				2504	0.0061					ENST00000312675.4				Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"L, M"	"HMGA2, MLL, C12orf9"		"lipoma, leukemia"	HMGA2/LPP(161)	0				NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(1141-1143)tcG>tcA		LIM domain containing preferred translocation partner in lipoma		G	,,	10,4396	16.8+/-37.8	0,10,2193	112	100	104		1143,702,1143	-11.5	0.0	3	dbSNP_134	104	79,8521	47.2+/-106.3	0,79,4221	no	coding-synonymous,coding-synonymous,coding-synonymous	LPP	NM_001167671.1,NM_001167672.1,NM_005578.3	,,	0,89,6414	AA,AG,GG		0.9186,0.227,0.6843	,,	381/613,234/466,381/613	188426084	89,12917	2203	4300	6503	SO:0001819	synonymous_variant	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188426084G>A	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"LIM domain-containing preferred translocation partner in lipoma"			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1143G>A	3.37:g.188426084G>A						LPP_ENST00000543006.1_Silent_p.S381S|LPP_ENST00000471917.1_3'UTR|LPP_ENST00000448637.1_Silent_p.S381S	p.S381S	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	7	1389	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	381					A1L4L6|D3DNV6|Q8NFX5	Silent	SNP	ENST00000312675.4	37	c.1143G>A	CCDS3291.1																																																																																				0.507	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		4	62	0	0	0	1	0	4	62					A	188426084	G	A	188426084	2	1	155	1	0	0	0	0	0	0	0	1	8923	1132	40	1		1	LPP	3	188426084	Silent	SNP	G	TCGA-DJ-A4UR-01A-11D-A257-08	142417805	188426084	9596346	5	3213											
PCDHA1	56147	broad.mit.edu	37	chr5	140166057	140166057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagctggcggagctggtgcCtcgcctgttccgggtggcgt	19	11	0	0			TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chr5:140166057C>T	ENST00000504120.2	+	1	182	c.182C>T	c.(181-183)cCt>cTt	p.P61L	PCDHA1_ENST00000378133.3_Missense_Mutation_p.P61L|PCDHA1_ENST00000394633.3_Missense_Mutation_p.P61L	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	61	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCTGGTGCCTCGCCTGTTC	0.592																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(181-183)cCt>cTt									60	65	63					5																	140166057		2203	4300	6503	SO:0001583	missense	0							g.chr5:140166057C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.182C>T	5.37:g.140166057C>T	ENSP00000420840:p.Pro61Leu					PCDHA1_ENST00000378133.3_Missense_Mutation_p.P61L|PCDHA1_ENST00000394633.3_Missense_Mutation_p.P61L	p.P61L	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	182	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.182C>T	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	c	15.30	2.793016	0.50102	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.26660	1.72;1.72;1.72	4.53	4.53	0.55603	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.175198	0.27176	U	0.020572	T	0.46151	0.1378	M	0.72576	2.205	0.34935	D	0.749757	P;P;P	0.49635	0.738;0.926;0.807	B;P;B	0.55391	0.263;0.775;0.317	T	0.63386	-0.6649	10	0.87932	D	0	.	17.6095	0.88048	0.0:1.0:0.0:0.0	.	61;61;61	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	L	61	ENSP00000420840:P61L;ENSP00000378129:P61L;ENSP00000367373:P61L	ENSP00000367373:P61L	P	+	2	0	PCDHA1	140146241	0.021000	0.18746	1.000000	0.80357	0.792000	0.44763	1.639000	0.37176	2.246000	0.74042	0.650000	0.86243	CCT		0.592	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		15	84	0	0	0	1	0	15	84					T	140166057	C	T	140166057	3	4	155	1	0	0	0	0	1	0	0	0	11519	681	24	2	184	2	PCDHA1	5	140166057	Missense_Mutation	SNP	C	TCGA-DJ-A4UR-01A-11D-A257-08		140166057	40749203	6	3214											
LCN15	389812	broad.mit.edu	37	chr9	139658396	139658396	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtggacatggacaggtgGtccttcttgcccaggaagac	14	10	1	1			TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chr9:139658396G>A	ENST00000316144.5	-	2	186	c.162C>T	c.(160-162)gaC>gaT	p.D54D	LCN15_ENST00000482511.1_5'UTR	NM_203347.1	NP_976222.1	Q6UWW0	LCN15_HUMAN	lipocalin 15	54					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	small molecule binding (GO:0036094)|transporter activity (GO:0005215)			endometrium(1)|lung(1)	2						TGGACAGGTGGTCCTTCTTGC	0.642																																						ENST00000316144.5																			0				endometrium(1)|lung(1)	2						c.(160-162)gaC>gaT		lipocalin 15							107	102	104					9																	139658396		2203	4300	6503	SO:0001819	synonymous_variant	389812				lipid metabolic process	extracellular region	binding|transporter activity	g.chr9:139658396G>A		CCDS7006.1	9q34.3	2011-10-24			ENSG00000177984	ENSG00000177984		"Lipocalins"	33777	protein-coding gene	gene with protein product							Standard	NM_203347		Approved	UNQ2541, PRO6093	uc004cjd.3	Q6UWW0	OTTHUMG00000020943	ENST00000316144.5:c.162C>T	9.37:g.139658396G>A						LCN15_ENST00000482511.1_5'UTR	p.D54D	NM_203347.1	NP_976222.1	Q6UWW0	LCN15_HUMAN			2	186	-			54						Silent	SNP	ENST00000316144.5	37	c.162C>T	CCDS7006.1																																																																																				0.642	LCN15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055114.2	NM_203347		9	105	0	0	0	1	0	9	105					A	139658396	G	A	139658396	2	1	155	1	0	0	0	0	0	0	0	1	8683	1252	44	2		2	LCN15	9	139658396	Silent	SNP	G	TCGA-DJ-A4UR-01A-11D-A257-08		139658396	1555035	7	3215											
OR4K5	79317	broad.mit.edu	37	chr14	20388907	20388907	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaatcttctcattatcctcAcagtgacttctgataccagc	5	12	4	2			TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chr14:20388907A>T	ENST00000315915.4	+	1	167	c.142A>T	c.(142-144)Aca>Tca	p.T48S		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATTATCCTCACAGTGACTTC	0.408																																						ENST00000315915.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(142-144)Aca>Tca		olfactory receptor, family 4, subfamily K, member 5							226	235	232					14																	20388907		2203	4300	6503	SO:0001583	missense	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20388907A>T	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"GPCR / Class A : Olfactory receptors"	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.142A>T	14.37:g.20388907A>T	ENSP00000319511:p.Thr48Ser						p.T48S	NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	167	+	all_cancers(95;0.00108)		48					Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	c.142A>T	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	8.032	0.761996	0.15914	.	.	ENSG00000176281	ENST00000315915	T	0.02890	4.12	4.41	-0.405	0.12392	GPCR, rhodopsin-like superfamily (1);	0.423873	0.19842	N	0.104830	T	0.03739	0.0106	M	0.77486	2.375	0.09310	N	1	B	0.30455	0.28	B	0.31245	0.126	T	0.36261	-0.9755	10	0.49607	T	0.09	.	0.6866	0.00884	0.3813:0.1726:0.2784:0.1677	.	48	Q8NGD3	OR4K5_HUMAN	S	48	ENSP00000319511:T48S	ENSP00000319511:T48S	T	+	1	0	OR4K5	19458747	0.000000	0.05858	0.002000	0.10522	0.586000	0.36452	-0.738000	0.04871	-0.251000	0.09542	-0.256000	0.11100	ACA		0.408	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		10	258	0	0	0	1	0	10	258					T	20388907	A	T	20388907	3	4	155	1	0	0	0	0	1	0	0	0	11073	159	6	5	144	5	OR4K5	14	20388907	Missense_Mutation	SNP	A	TCGA-DJ-A4UR-01A-11D-A257-08		20388907	86960633	8	3216											
LRFN5	145581	broad.mit.edu	37	chr14	42355903	42355903	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atctgtccaaagcgttgtgtCtgtcagattttgtctcctaa	8	9	4	1			TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chr14:42355903C>A	ENST00000298119.4	+	3	1264	c.75C>A	c.(73-75)gtC>gtA	p.V25V	LRFN5_ENST00000554171.1_Silent_p.V25V|LRFN5_ENST00000554120.1_Silent_p.V25V	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	25	LRRNT.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AGCGTTGTGTCTGTCAGATTT	0.403										HNSCC(30;0.082)																												ENST00000554171.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(73-75)gtC>gtA		leucine rich repeat and fibronectin type III domain containing 5							90	82	85					14																	42355903		2203	4300	6503	SO:0001819	synonymous_variant	145581					integral to membrane		g.chr14:42355903C>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	20360	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 8"	612811	"chromosome 14 open reading frame 146"	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.75C>A	14.37:g.42355903C>A		HNSCC(30;0.082)				LRFN5_ENST00000298119.4_Silent_p.V25V|LRFN5_ENST00000554120.1_Silent_p.V25V	p.V25V			Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	5	2507	+			25			LRRNT.		B3KU78|Q86XL2	Silent	SNP	ENST00000298119.4	37	c.75C>A	CCDS9678.1																																																																																				0.403	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		12	20	1	0	0.000978159	1	0.00100611	12	20					A	42355903	C	A	42355903	2	1	155	1	0	0	0	0	0	0	0	1	8941	900	32	4		4	LRFN5	14	42355903	Silent	SNP	C	TCGA-DJ-A4UR-01A-11D-A257-08	21966996	42355903	64993637	9	3217											
C14orf101	54916	broad.mit.edu	37	chr14	57088388	57088388	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acatgcattactgtgaggggTtgaggcctgacatttcatta	11	7	1	3			TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chr14:57088388T>C	ENST00000261556.6	+	11	1488	c.1366T>C	c.(1366-1368)Ttg>Ctg	p.L456L	TMEM260_ENST00000538838.1_Intron|TMEM260_ENST00000536419.1_Intron	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	456						integral component of membrane (GO:0016021)											CTGTGAGGGGTTGAGGCCTGA	0.368																																						ENST00000261556.6																			0											c.(1366-1368)Ttg>Ctg		transmembrane protein 260							105	96	99					14																	57088388		2203	4300	6503	SO:0001819	synonymous_variant	54916							g.chr14:57088388T>C	AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 101"	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.1366T>C	14.37:g.57088388T>C						TMEM260_ENST00000538838.1_Intron|TMEM260_ENST00000536419.1_Intron	p.L456L	NM_017799.3	NP_060269.3					11	1488	+								A8KAN4|B3KPF5|Q86XE1	Silent	SNP	ENST00000261556.6	37	c.1366T>C	CCDS9727.2																																																																																				0.368	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799		10	33	0	0	0	1	0	10	33					C	57088388	T	C	57088388	2	2	155	1	0	0	0	0	0	0	0	1	1734	1722	60	3		3	C14orf101	14	57088388	Silent	SNP	T	TCGA-DJ-A4UR-01A-11D-A257-08	14732485	57088388	50261152	10	3218											
HAGHL	84264	broad.mit.edu	37	chr16	778954	778954	+	Frame_Shift_Del	DEL	T	T	-													ggagggaacaggcttcggggTggggggggctctcagacaag					rs368040005		TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chr16:778954delT	ENST00000341413.4	+	7	940	c.659delT	c.(658-660)gtgfs	p.V220fs	HAGHL_ENST00000389703.3_Intron|HAGHL_ENST00000564545.1_3'UTR|HAGHL_ENST00000549114.1_3'UTR|NARFL_ENST00000562862.1_5'Flank|HAGHL_ENST00000564537.1_3'UTR|HAGHL_ENST00000561546.1_Intron|CCDC78_ENST00000293889.6_5'Flank			Q6PII5	HAGHL_HUMAN	hydroxyacylglutathione hydrolase-like	220							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			lung(3)	3		Hepatocellular(780;0.00335)				GGCTTCGGGGTGGGGGGGGCT	0.672																																					Pancreas(46;538 1326 12403 32360)	ENST00000341413.4																			0				lung(3)	3						c.(658-660)ggfs		hydroxyacylglutathione hydrolase-like							6	7	7					16																	778954		2102	4190	6292	SO:0001589	frameshift_variant	84264						hydrolase activity|metal ion binding	g.chr16:778954delT	AK054841	CCDS32354.1	16p13.3	2008-02-05	2003-11-04						14177	protein-coding gene	gene with protein product			"hydroxyacyl glutathione hydrolase-like"			12477932	Standard	XM_005255629		Approved	MGC2605	uc002cjo.1	Q6PII5		ENST00000341413.4:c.659delT	16.37:g.778954delT	ENSP00000341952:p.Val220fs					HAGHL_ENST00000564545.1_3'UTR|HAGHL_ENST00000564537.1_3'UTR|HAGHL_ENST00000389703.3_Intron|HAGHL_ENST00000549114.1_3'UTR|HAGHL_ENST00000561546.1_Intron	p.V220fs			Q6PII5	HAGHL_HUMAN			7	940	+		Hepatocellular(780;0.00335)	220					A6NCC4|D3DU64|Q59FX8|Q96BZ3|Q96NR5|Q96S11|Q9BT45	Frame_Shift_Del	DEL	ENST00000341413.4	37	c.659delT																																																																																					0.672	HAGHL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409607.1	NM_032304		2	4						2	4	---	---	---	---	-	778954	T	-	778954	7	5	155	1	0	1	0	1	0	0	0	0	6946	1696	59	0	681	0	HAGHL	16	778954	Frame_Shift_Del	DEL	T	TCGA-DJ-A4UR-01A-11D-A257-08		778954	89575799	11	3219											
NDRG4	65009	broad.mit.edu	37	chr16	58542903	58542903	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actggacccgaccactacgaCcttcctgaaggtgaggcttt	10	13	0	2			TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chr16:58542903C>A	ENST00000570248.1	+	11	873	c.767C>A	c.(766-768)aCc>aAc	p.T256N	NDRG4_ENST00000394279.2_Missense_Mutation_p.T288N|NDRG4_ENST00000566192.1_Missense_Mutation_p.T256N|NDRG4_ENST00000562999.1_Missense_Mutation_p.T256N|NDRG4_ENST00000356752.4_Missense_Mutation_p.T286N|NDRG4_ENST00000258187.5_Missense_Mutation_p.T288N|NDRG4_ENST00000568640.1_Missense_Mutation_p.T274N|NDRG4_ENST00000563799.1_Missense_Mutation_p.T274N|NDRG4_ENST00000394282.4_Missense_Mutation_p.T308N|NDRG4_ENST00000569923.1_Missense_Mutation_p.T201N	NM_001242835.1	NP_001229764.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	256	Poly-Thr.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|response to stress (GO:0006950)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						ACCACTACGACCTTCCTGAAG	0.632																																						ENST00000394282.4																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						c.(922-924)aCc>aAc		NDRG family member 4							69	70	70					16																	58542903		2198	4300	6498	SO:0001583	missense	65009				cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm		g.chr16:58542903C>A	AB044947	CCDS10797.1, CCDS45500.1, CCDS55999.1, CCDS58465.1, CCDS58466.1, CCDS58467.1	16q21-q22.3	2008-07-04			ENSG00000103034	ENSG00000103034			14466	protein-coding gene	gene with protein product		614463				11352569, 16408304	Standard	NM_020465		Approved	KIAA1180, SMAP-8	uc002enk.3	Q9ULP0	OTTHUMG00000133485	ENST00000570248.1:c.767C>A	16.37:g.58542903C>A	ENSP00000457659:p.Thr256Asn					NDRG4_ENST00000562999.1_Missense_Mutation_p.T256N|NDRG4_ENST00000566192.1_Missense_Mutation_p.T256N|NDRG4_ENST00000570248.1_Missense_Mutation_p.T256N|NDRG4_ENST00000569923.1_Missense_Mutation_p.T201N|NDRG4_ENST00000394279.2_Missense_Mutation_p.T288N|NDRG4_ENST00000568640.1_Missense_Mutation_p.T274N|NDRG4_ENST00000563799.1_Missense_Mutation_p.T274N|NDRG4_ENST00000258187.5_Missense_Mutation_p.T288N|NDRG4_ENST00000356752.4_Missense_Mutation_p.T286N	p.T308N	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN			13	1330	+			256					B3KNU2|B4DK66|B4DSW5|H7C600|Q6ZNE7|Q6ZTI7|Q96PL9|Q9GZM1|Q9GZN3|Q9GZX0	Missense_Mutation	SNP	ENST00000570248.1	37	c.923C>A	CCDS58466.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.672764	0.88445	.	.	ENSG00000103034	ENST00000258187;ENST00000421602;ENST00000394282;ENST00000394279;ENST00000356752	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.39545	0.1082	L	0.46947	1.48	0.58432	D	0.999999	P;P;P;P;P;P;P	0.52061	0.898;0.95;0.825;0.682;0.873;0.918;0.682	P;P;P;P;P;P;P	0.62435	0.867;0.902;0.842;0.626;0.81;0.712;0.626	T	0.04029	-1.0983	10	0.54805	T	0.06	-20.0957	18.0824	0.89445	0.0:1.0:0.0:0.0	.	274;286;274;256;256;308;288	B4DK66;B4DSW5;Q9ULP0-5;Q9ULP0-2;Q9ULP0;Q9ULP0-6;Q9ULP0-3	.;.;.;.;NDRG4_HUMAN;.;.	N	288;201;308;288;286	ENSP00000258187:T288N;ENSP00000377823:T308N;ENSP00000377820:T288N;ENSP00000349193:T286N	ENSP00000258187:T288N	T	+	2	0	NDRG4	57100404	1.000000	0.71417	0.997000	0.53966	0.742000	0.42306	5.725000	0.68507	2.607000	0.88179	0.561000	0.74099	ACC		0.632	NDRG4-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422671.2			3	31	1	0	0.115264	1	0.115264	3	31					A	58542903	C	A	58542903	3	1	155	1	0	0	0	0	1	0	0	0	10254	507	18	4	973	4	NDRG4	16	58542903	Missense_Mutation	SNP	C	TCGA-DJ-A4UR-01A-11D-A257-08	57763949	58542903	31811850	12	3220											
KRTAP4-11	653240	broad.mit.edu	37	chr17	39274518	39274518	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggtctcctggcagaggtctCggccacagccttggtgagag	15	11	2	2	rs9897031	byFrequency	TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chr17:39274518C>T	ENST00000391413.2	-	1	88	c.50G>A	c.(49-51)cGa>cAa	p.R17Q		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	17	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].			R -> Q (in Ref. 1; CAC27583 and 3; AAI26132/AAI30563). {ECO:0000305}.		keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGAGGTCTCGGCCACAGCC	0.592													t|||	3444	0.6877	0.9622	0.6686	5008	,	,		17251	0.4306		0.7137	False		,,,				2504	0.5685					ENST00000391413.2																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(49-51)cGa>cAa		keratin associated protein 4-11		T	GLN/ARG	1290,94		606,78,8	33	36	35		50	-0.2	0.3	17	dbSNP_119	35	2296,886		819,658,114	no	missense	KRTAP4-11	NM_033059.3	43	1425,736,122	TT,TC,CC		27.8441,6.7919,21.463	benign	17/196	39274518	3586,980	692	1591	2283	SO:0001583	missense	653240					keratin filament		g.chr17:39274518C>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"Keratin associated proteins"	18911	protein-coding gene	gene with protein product			"keratin associated protein 4-14"	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.50G>A	17.37:g.39274518C>T	ENSP00000375232:p.Arg17Gln						p.R17Q	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	88	-		Breast(137;0.000496)	17	R -> Q (in Ref. 1; CAC27583 and 3; AAI26132/AAI30563).		27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.50G>A	CCDS45675.1	1511	0.6918498168498168	470	0.9552845528455285	251	0.6933701657458563	250	0.4370629370629371	540	0.712401055408971	.	0.008	-1.890787	0.00527	0.932081	0.721559	ENSG00000212721	ENST00000391413	T	0.00590	6.36	2.47	-0.215	0.13157	.	1.088530	0.07528	N	0.911716	T	0.00012	0.0000	N	0.00517	-1.405	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.14117	-1.0484	9	0.10111	T	0.7	.	2.9268	0.05787	0.0:0.3197:0.248:0.4323	rs9897031;rs62066328	17	Q9BYQ6	KR411_HUMAN	Q	17	ENSP00000375232:R17Q	ENSP00000375232:R17Q	R	-	2	0	KRTAP4-11	36528044	0.092000	0.21681	0.304000	0.25085	0.113000	0.19764	2.115000	0.41921	-0.140000	0.11394	-0.684000	0.03749	CGA		0.592	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			3	33	0	0	0	1	0	3	33					T	39274518	C	T	39274518	3	4	155	1	0	0	0	0	1	0	0	0	8549	884	31	1	541	1	KRTAP4-11	17	39274518	Missense_Mutation	SNP	C	TCGA-DJ-A4UR-01A-11D-A257-08		39274518	41920692	13	3221											
CILP2	148113	broad.mit.edu	37	chr19	19655920	19655920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgacgatcccgccttcaagCgtaacggcttccgcatcaac	8	16	2	0			TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chr19:19655920C>T	ENST00000291495.5	+	8	2651	c.2566C>T	c.(2566-2568)Cgt>Tgt	p.R856C	CILP2_ENST00000586018.1_Missense_Mutation_p.R862C	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	856						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CGCCTTCAAGCGTAACGGCTT	0.697																																						ENST00000586018.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(2584-2586)Cgt>Tgt		cartilage intermediate layer protein 2							27	27	27					19																	19655920		2111	4121	6232	SO:0001583	missense	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19655920C>T	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.2566C>T	19.37:g.19655920C>T	ENSP00000291495:p.Arg856Cys					CILP2_ENST00000291495.4_Missense_Mutation_p.R856C	p.R862C			Q8IUL8	CILP2_HUMAN			8	2686	+			856					Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	c.2584C>T	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452212	0.63290	.	.	ENSG00000160161	ENST00000291495	T	0.10099	2.91	5.2	1.56	0.23342	.	0.111125	0.56097	D	0.000027	T	0.13970	0.0338	L	0.36672	1.1	0.37626	D	0.921496	D;D	0.69078	0.997;0.997	P;P	0.55260	0.772;0.772	T	0.06770	-1.0808	10	0.87932	D	0	-26.3624	7.351	0.26691	0.5035:0.3626:0.1339:0.0	.	856;856	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	C	856	ENSP00000291495:R856C	ENSP00000291495:R856C	R	+	1	0	CILP2	19516920	1.000000	0.71417	0.002000	0.10522	0.932000	0.56968	6.673000	0.74482	0.542000	0.28846	0.555000	0.69702	CGT		0.697	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		14	33	0	0	0	1	0	14	33					T	19655920	C	T	19655920	3	4	155	1	0	0	0	0	1	0	0	0	3430	768	27	1	2596	1	CILP2	19	19655920	Missense_Mutation	SNP	C	TCGA-DJ-A4UR-01A-11D-A257-08		19655920	39473063	14	3222											
NKG7	4818	broad.mit.edu	37	chr19	51875739	51875739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaagcaatcaggcagaaCatcaggcccagggagccccc	10	15	3	1			TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chr19:51875739C>T	ENST00000221978.5	-	1	230	c.51G>A	c.(49-51)atG>atA	p.M17I	NKG7_ENST00000600427.1_Missense_Mutation_p.M17I|NKG7_ENST00000595217.1_Missense_Mutation_p.M17I	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN	natural killer cell granule protein 7	17						integral component of plasma membrane (GO:0005887)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCAGGCAGAACATCAGGCCCA	0.622																																						ENST00000221978.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						c.(49-51)atG>atA		natural killer cell group 7 sequence							61	64	63					19																	51875739		2203	4300	6503	SO:0001583	missense	4818					integral to plasma membrane		g.chr19:51875739C>T		CCDS12830.1	19q13.41	2014-03-07	2014-03-07		ENSG00000105374	ENSG00000105374			7830	protein-coding gene	gene with protein product	"granule membrane protein 17"	606008	"natural killer cell group 7 sequence"			8458737	Standard	NM_005601		Approved	GIG1, GMP-17	uc002pwj.3	Q16617	OTTHUMG00000182898	ENST00000221978.5:c.51G>A	19.37:g.51875739C>T	ENSP00000221978:p.Met17Ile					NKG7_ENST00000600427.1_Missense_Mutation_p.M17I|NKG7_ENST00000595217.1_Missense_Mutation_p.M17I	p.M17I	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	1	230	-		all_neural(266;0.0199)	17						Missense_Mutation	SNP	ENST00000221978.5	37	c.51G>A	CCDS12830.1	.	.	.	.	.	.	.	.	.	.	C	4.747	0.138941	0.09083	.	.	ENSG00000105374	ENST00000221978	D	0.88046	-2.33	4.98	-9.95	0.00446	.	1.779970	0.03077	N	0.157952	T	0.63129	0.2485	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.60672	-0.7217	10	0.14252	T	0.57	-32.1921	0.9445	0.01362	0.3545:0.0966:0.2259:0.323	.	17	Q16617	NKG7_HUMAN	I	17	ENSP00000221978:M17I	ENSP00000221978:M17I	M	-	3	0	NKG7	56567551	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-2.275000	0.01162	-3.621000	0.00131	-1.045000	0.02358	ATG		0.622	NKG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464260.2	NM_005601		26	53	0	0	0	1	0	26	53					T	51875739	C	T	51875739	3	4	155	1	0	0	0	0	1	0	0	0	10443	478	17	2	462	2	NKG7	19	51875739	Missense_Mutation	SNP	C	TCGA-DJ-A4UR-01A-11D-A257-08	32219819	51875739	7253244	15	3223											
PTPRA	5786	broad.mit.edu	37	chr20	3016532	3016532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatgatcagcatcatcgccGccgtgcagaagcagcagcag	12	13	2	2	rs375312168		TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chr20:3016532G>A	ENST00000216877.6	+	21	2516	c.2116G>A	c.(2116-2118)Gcc>Acc	p.A706T	PTPRA_ENST00000356147.3_Missense_Mutation_p.A706T|PTPRA_ENST00000358719.4_Missense_Mutation_p.A571T|PTPRA_ENST00000399903.2_Missense_Mutation_p.A715T|PTPRA_ENST00000380393.3_Missense_Mutation_p.A715T|PTPRA_ENST00000425918.2_Missense_Mutation_p.A726T|PTPRA_ENST00000318266.5_Missense_Mutation_p.A706T	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	715	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CATCATCGCCGCCGTGCAGAA	0.602																																						ENST00000216877.6																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(2116-2118)Gcc>Acc		protein tyrosine phosphatase, receptor type, A		G	THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	104	95	98		2143,2116,2116	5.6	1.0	20		98	0,8600		0,0,4300	no	missense,missense,missense	PTPRA	NM_002836.3,NM_080840.2,NM_080841.2	58,58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	715/803,706/794,706/794	3016532	1,13005	2203	4300	6503	SO:0001583	missense	0				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr20:3016532G>A		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.2116G>A	20.37:g.3016532G>A	ENSP00000216877:p.Ala706Thr					PTPRA_ENST00000399903.2_Missense_Mutation_p.A715T|PTPRA_ENST00000425918.2_Missense_Mutation_p.A726T|PTPRA_ENST00000380393.3_Missense_Mutation_p.A715T|PTPRA_ENST00000356147.3_Missense_Mutation_p.A706T|PTPRA_ENST00000318266.5_Missense_Mutation_p.A706T|PTPRA_ENST00000358719.4_Missense_Mutation_p.A571T	p.A706T	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN			21	2516	+			715			Tyrosine-protein phosphatase 2.		A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	37	c.2116G>A	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	G	35	5.562041	0.96527	2.27E-4	0.0	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000542217;ENST00000425918;ENST00000318266;ENST00000356147	D;D;D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76	5.57	5.57	0.84162	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	U	0.000000	D	0.88470	0.6445	L	0.41027	1.25	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.995	B;D;P	0.83275	0.446;0.996;0.72	D	0.88998	0.3419	10	0.66056	D	0.02	.	19.5578	0.95358	0.0:0.0:1.0:0.0	.	726;715;706	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	T	715;706;715;571;325;726;706;706	ENSP00000369756:A715T;ENSP00000216877:A706T;ENSP00000382787:A715T;ENSP00000351559:A571T;ENSP00000393553:A726T;ENSP00000314568:A706T;ENSP00000348468:A706T	ENSP00000216877:A706T	A	+	1	0	PTPRA	2964532	1.000000	0.71417	0.973000	0.42090	0.985000	0.73830	9.869000	0.99810	2.604000	0.88044	0.563000	0.77884	GCC		0.602	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3			40	58	0	0	0	1	0	40	58					A	3016532	G	A	3016532	3	1	155	1	0	0	0	0	1	0	0	0	12795	1087	38	1	2217	1	PTPRA	20	3016532	Missense_Mutation	SNP	G	TCGA-DJ-A4UR-01A-11D-A257-08		3016532	60008988	16	3224											
BPIL2	254240	broad.mit.edu	37	chr22	32841871	32841871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggcatggctcagttgggCgtagcaatcttggagcttca	15	8	3	0	rs202166085		TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chr22:32841871C>T	ENST00000397452.1	-	5	597	c.487G>A	c.(487-489)Gcc>Acc	p.A163T	BPIFC_ENST00000432451.2_5'UTR|BPIFC_ENST00000534972.1_Intron|BPIFC_ENST00000300399.3_Missense_Mutation_p.A163T			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	163						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										CTCAGTTGGGCGTAGCAATCT	0.522																																						ENST00000397452.1																			0											c.(487-489)Gcc>Acc		BPI fold containing family C							82	79	80					22																	32841871		2203	4300	6503	SO:0001583	missense	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32841871C>T	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"BPI fold containing"	16503	protein-coding gene	gene with protein product		614109	"bactericidal/permeability-increasing protein-like 2"	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.487G>A	22.37:g.32841871C>T	ENSP00000380594:p.Ala163Thr					BPIFC_ENST00000300399.3_Missense_Mutation_p.A163T|BPIFC_ENST00000432451.2_5'UTR|BPIFC_ENST00000534972.1_Intron	p.A163T			Q8NFQ6	BPIL2_HUMAN			5	597	-			163					A2RRF1	Missense_Mutation	SNP	ENST00000397452.1	37	c.487G>A	CCDS13906.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499044	0.64298	.	.	ENSG00000184459	ENST00000397452;ENST00000300399	T;T	0.05139	3.49;3.49	5.6	5.6	0.85130	.	0.259960	0.38492	N	0.001665	T	0.09598	0.0236	M	0.66939	2.045	0.80722	D	1	P	0.34800	0.469	B	0.31812	0.136	T	0.12372	-1.0550	10	0.26408	T	0.33	-13.2509	15.1259	0.72483	0.0:1.0:0.0:0.0	.	163	Q8NFQ6	BPIFC_HUMAN	T	163	ENSP00000380594:A163T;ENSP00000300399:A163T	ENSP00000300399:A163T	A	-	1	0	BPIFC	31171871	0.951000	0.32395	0.855000	0.33649	0.629000	0.37895	2.161000	0.42358	2.641000	0.89580	0.650000	0.86243	GCC		0.522	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932		3	23	0	0	0	1	0	3	23					T	32841871	C	T	32841871	3	4	155	1	0	0	0	0	1	0	0	0	1492	768	27	1	1084	1	BPIL2	22	32841871	Missense_Mutation	SNP	C	TCGA-DJ-A4UR-01A-11D-A257-08		32841871	18462695	17	3225											
MXRA5	25878	broad.mit.edu	37	chrX	3241966	3241966	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actcccctgggttcttgccaAttgtcactgtgtctttctcg	8	13	4	0	rs147548313		TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chrX:3241966A>G	ENST00000217939.6	-	5	1914	c.1760T>C	c.(1759-1761)aTt>aCt	p.I587T		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	587	Ig-like C2-type 2.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTTCTTGCCAATTGTCACTGT	0.488																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(1759-1761)aTt>aCt		matrix-remodelling associated 5		A	THR/ILE	1,3834		0,1,0,1631,571	57	42	47		1760	4.0	0.0	X	dbSNP_134	47	1,6727		0,0,1,2428,1871	yes	missense	MXRA5	NM_015419.3	89	0,1,1,4059,2442	GG,GA,G,AA,A		0.0149,0.0261,0.0189	probably-damaging	587/2829	3241966	2,10561	2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3241966A>G	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.1760T>C	X.37:g.3241966A>G	ENSP00000217939:p.Ile587Thr						p.I587T	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	1914	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	587			Ig-like C2-type 2.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.1760T>C	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	A	13.86	2.363056	0.41902	2.61E-4	1.49E-4	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.64438	-0.1	3.95	3.95	0.45737	Immunoglobulin-like (1);	0.359291	0.19794	U	0.105905	T	0.54549	0.1865	L	0.51914	1.62	0.09310	N	1	B	0.30634	0.288	B	0.29524	0.103	T	0.46679	-0.9174	10	0.33940	T	0.23	.	12.4327	0.55583	1.0:0.0:0.0:0.0	.	587	Q9NR99	MXRA5_HUMAN	T	587	ENSP00000217939:I587T	ENSP00000217939:I587T	I	-	2	0	MXRA5	3251966	0.080000	0.21391	0.001000	0.08648	0.008000	0.06430	3.776000	0.55356	1.291000	0.44653	0.427000	0.28365	ATT		0.488	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		11	16	0	0	0	1	0	11	16					G	3241966	A	G	3241966	3	3	155	1	0	0	0	0	1	0	0	0	10003	101	4	3	6738	3	MXRA5	23	3241966	Missense_Mutation	SNP	A	TCGA-DJ-A4UR-01A-11D-A257-08		3241966	152028594	18	3226											
HUWE1	10075	broad.mit.edu	37	chrX	53635851	53635851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgaggggaataggaatacGttcctctgtaccaacaaccc	9	11	1	1			TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chrX:53635851G>A	ENST00000342160.3	-	23	2738	c.2281C>T	c.(2281-2283)Cgt>Tgt	p.R761C	HUWE1_ENST00000262854.6_Missense_Mutation_p.R761C|HUWE1_ENST00000218328.8_Missense_Mutation_p.R761C			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	761					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATAGGAATACGTTCCTCTGTA	0.388																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(2281-2283)Cgt>Tgt		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							161	133	142					X																	53635851		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53635851G>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.2281C>T	X.37:g.53635851G>A	ENSP00000340648:p.Arg761Cys					HUWE1_ENST00000218328.8_Missense_Mutation_p.R761C|HUWE1_ENST00000262854.6_Missense_Mutation_p.R761C	p.R761C			Q7Z6Z7	HUWE1_HUMAN			23	2738	-			761					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.2281C>T	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566975	0.65651	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.46451	0.87;0.87;0.87	4.9	3.99	0.46301	E3 ubiquitin ligase, domain of unknown function DUF913 (1);	0.571348	0.16288	N	0.221059	T	0.59293	0.2183	M	0.63843	1.955	0.58432	D	0.999999	D	0.89917	1.0	D	0.76071	0.987	T	0.61327	-0.7085	10	0.87932	D	0	.	10.8929	0.47006	0.0:0.0:0.67:0.33	.	761	Q7Z6Z7	HUWE1_HUMAN	C	761	ENSP00000340648:R761C;ENSP00000262854:R761C;ENSP00000218328:R761C	ENSP00000218328:R761C	R	-	1	0	HUWE1	53652576	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.709000	0.54853	2.024000	0.59613	0.600000	0.82982	CGT		0.388	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		24	52	0	0	0	1	0	24	52					A	53635851	G	A	53635851	3	1	155	1	0	0	0	0	1	0	0	0	7461	1145	40	1	11087	1	HUWE1	23	53635851	Missense_Mutation	SNP	G	TCGA-DJ-A4UR-01A-11D-A257-08	50393885	53635851	101634709	19	3227											
ODZ1	10178	broad.mit.edu	37	chrX	123615678	123615678	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcaccagttcctgccaccaCttcaaaattcttggacagat	5	13	3	1			TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chrX:123615678C>A	ENST00000371130.3	-	21	3895	c.3832G>T	c.(3832-3834)Gtg>Ttg	p.V1278L	TENM1_ENST00000422452.2_Missense_Mutation_p.V1285L|TENM1_ENST00000461429.1_5'UTR	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1278					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CCTGCCACCACTTCAAAATTC	0.468																																						ENST00000422452.2																			0											c.(3853-3855)Gtg>Ttg		teneurin transmembrane protein 1							139	113	122					X																	123615678		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123615678C>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.3832G>T	X.37:g.123615678C>A	ENSP00000360171:p.Val1278Leu					TENM1_ENST00000371130.3_Missense_Mutation_p.V1278L|TENM1_ENST00000461429.1_5'UTR	p.V1285L	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					22	3916	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.3853G>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.882907	0.51908	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.89746	-2.56;-2.56	4.86	4.86	0.63082	Six-bladed beta-propeller, TolB-like (1);	0.071900	0.56097	D	0.000030	D	0.83622	0.5294	L	0.37750	1.13	0.58432	D	0.999993	P;B;P	0.37441	0.595;0.217;0.5	B;B;B	0.31016	0.123;0.033;0.11	D	0.85537	0.1213	10	0.62326	D	0.03	.	17.4266	0.87528	0.0:1.0:0.0:0.0	.	1284;1285;1278	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	L	1278;1285	ENSP00000360171:V1278L;ENSP00000403954:V1285L	ENSP00000360171:V1278L	V	-	1	0	ODZ1	123443359	0.964000	0.33143	1.000000	0.80357	0.996000	0.88848	2.093000	0.41710	2.128000	0.65567	0.600000	0.82982	GTG		0.468	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		7	80	1	0	2.7689e-08	1	3.11501e-08	7	80					A	123615678	C	A	123615678	3	1	155	1	0	0	0	0	1	0	0	0	10834	565	20	4	4389	4	ODZ1	23	123615678	Missense_Mutation	SNP	C	TCGA-DJ-A4UR-01A-11D-A257-08	69979827	123615678	31654882	20	3228											
NPPA	4878	broad.mit.edu	37	chr1	11907290	11907290	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gccctcagcttgctttttagGagggcagatcgatcagagga	13	9	2	2			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr1:11907290G>T	ENST00000376480.3	-	2	428	c.330C>A	c.(328-330)ctC>ctA	p.L110L	NPPA_ENST00000376476.1_Silent_p.L60L|NPPA-AS1_ENST00000446542.1_RNA|NPPA-AS1_ENST00000400892.2_RNA	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN	natriuretic peptide A	110					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to mechanical stimulus (GO:0071260)|cGMP biosynthetic process (GO:0006182)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|negative regulation of cell growth (GO:0030308)|negative regulation of systemic arterial blood pressure (GO:0003085)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|transcription initiation from RNA polymerase II promoter (GO:0006367)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTTTTTAGGAGGGCAGATC	0.667																																						ENST00000376480.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(328-330)ctC>ctA		natriuretic peptide A							58	68	64					1																	11907290		2203	4298	6501	SO:0001819	synonymous_variant	4878				cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity	g.chr1:11907290G>T	BC005893	CCDS139.1	1p36.21	2014-09-17	2010-11-09		ENSG00000175206	ENSG00000175206		"Endogenous ligands"	7939	protein-coding gene	gene with protein product		108780	"natriuretic peptide precursor A"	ANP, PND			Standard	NM_006172		Approved		uc001ati.3	P01160	OTTHUMG00000002388	ENST00000376480.3:c.330C>A	1.37:g.11907290G>T						NPPA-AS1_ENST00000400892.2_RNA|NPPA-AS1_ENST00000446542.1_RNA|NPPA_ENST00000376476.1_Silent_p.L60L	p.L110L	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	428	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)	110					Q13766|Q5JZE1	Silent	SNP	ENST00000376480.3	37	c.330C>A	CCDS139.1																																																																																				0.667	NPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006852.1	NM_006172		7	127	1	0	0.00198382	1	0.00198382	7	127					T	11907290	G	T	11907290	2	4	156	1	0	0	0	0	0	0	0	1	10591	1161	41	4		4	NPPA	1	11907290	Silent	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08		11907290	237343331	1	3229											
WDR47	22911	broad.mit.edu	37	chr1	109560177	109560177	+	Nonsense_Mutation	SNP	G	G	A													ttccatacattctagaggctGaatgaactgaagaacttcat							TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr1:109560177G>A	ENST00000369962.3	-	3	427	c.205C>T	c.(205-207)Cag>Tag	p.Q69*	WDR47_ENST00000357672.3_Intron|WDR47_ENST00000400794.3_Nonsense_Mutation_p.Q69*|WDR47_ENST00000361054.3_Intron|WDR47_ENST00000369965.4_Nonsense_Mutation_p.Q69*			O94967	WDR47_HUMAN	WD repeat domain 47	69	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.				multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TCTAGAGGCTGAATGAACTGA	0.308																																						ENST00000369965.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(205-207)Cag>Tag		WD repeat domain 47							68	73	72					1																	109560177		2203	4300	6503	SO:0001587	stop_gained	22911							g.chr1:109560177G>A	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"WD repeat domain containing"	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.205C>T	1.37:g.109560177G>A	ENSP00000358979:p.Gln69*					WDR47_ENST00000400794.3_Nonsense_Mutation_p.Q69*|WDR47_ENST00000369962.3_Nonsense_Mutation_p.Q69*|WDR47_ENST00000361054.3_Intron|WDR47_ENST00000357672.3_Intron	p.Q69*	NM_001142550.1|NM_001142551.1|NM_014969.5	NP_001136022.1|NP_001136023.1|NP_055784.3	O94967	WDR47_HUMAN		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)	3	465	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	69			CTLH.		A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Nonsense_Mutation	SNP	ENST00000369962.3	37	c.205C>T	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	G	33	5.221293	0.95139	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000369965;ENST00000530772;ENST00000528747	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.0544	20.4238	0.99064	0.0:0.0:1.0:0.0	.	.	.	.	X	69	.	ENSP00000358979:Q69X	Q	-	1	0	WDR47	109361700	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.448000	0.97600	2.828000	0.97474	0.655000	0.94253	CAG		0.308	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969		5	49	0	0	0	1	0	5	49					A	109560177	G	A	109560177	4	1	156	1	0	0	0	0	0	1	0	0	17297	1299	45	2	2630	2	WDR47	1	109560177	Nonsense_Mutation	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08	97652887	109560177	139690444	2	3230	16	2									
WDR47	22911	broad.mit.edu	37	chr1	109560186	109560186	+	Nonsense_Mutation	SNP	G	G	A													ttctagaggctgaatgaactGaagaacttcatcccattgac							TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr1:109560186G>A	ENST00000369962.3	-	3	418	c.196C>T	c.(196-198)Cag>Tag	p.Q66*	WDR47_ENST00000357672.3_Intron|WDR47_ENST00000400794.3_Nonsense_Mutation_p.Q66*|WDR47_ENST00000361054.3_Intron|WDR47_ENST00000369965.4_Nonsense_Mutation_p.Q66*			O94967	WDR47_HUMAN	WD repeat domain 47	66	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.				multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TGAATGAACTGAAGAACTTCA	0.308																																						ENST00000369965.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(196-198)Cag>Tag		WD repeat domain 47							67	72	70					1																	109560186		2203	4299	6502	SO:0001587	stop_gained	22911							g.chr1:109560186G>A	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"WD repeat domain containing"	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.196C>T	1.37:g.109560186G>A	ENSP00000358979:p.Gln66*					WDR47_ENST00000400794.3_Nonsense_Mutation_p.Q66*|WDR47_ENST00000369962.3_Nonsense_Mutation_p.Q66*|WDR47_ENST00000361054.3_Intron|WDR47_ENST00000357672.3_Intron	p.Q66*	NM_001142550.1|NM_001142551.1|NM_014969.5	NP_001136022.1|NP_001136023.1|NP_055784.3	O94967	WDR47_HUMAN		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)	3	456	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	66			CTLH.		A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Nonsense_Mutation	SNP	ENST00000369962.3	37	c.196C>T	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	G	33	5.216353	0.95104	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000369965;ENST00000530772;ENST00000528747	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-3.1238	20.4238	0.99064	0.0:0.0:1.0:0.0	.	.	.	.	X	66	.	ENSP00000358979:Q66X	Q	-	1	0	WDR47	109361709	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.448000	0.97600	2.828000	0.97474	0.655000	0.94253	CAG		0.308	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969		4	48	0	0	0	1	0	4	48					A	109560186	G	A	109560186	4	1	156	1	0	0	0	0	0	1	0	0	17297	1299	45	2	2639	2	WDR47	1	109560186	Nonsense_Mutation	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08	9	109560186	139690435	3	3231	16	2									
ASTN1	460	broad.mit.edu	37	chr1	176852036	176852036	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggcatcgtatgatcagagaGatggtggtgagctgcttgtc	15	6	1	4			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr1:176852036G>A	ENST00000367654.3	-	20	3556	c.3345C>T	c.(3343-3345)atC>atT	p.I1115I	ASTN1_ENST00000367657.3_Silent_p.I1107I|ASTN1_ENST00000361833.2_Silent_p.I1107I|ASTN1_ENST00000424564.2_Silent_p.I1107I	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1115	Fibronectin type-III 1.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGATCAGAGAGATGGTGGTGA	0.507																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(3343-3345)atC>atT		astrotactin 1							170	144	153					1																	176852036		2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176852036G>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3345C>T	1.37:g.176852036G>A						ASTN1_ENST00000367657.3_Silent_p.I1107I|ASTN1_ENST00000361833.2_Silent_p.I1107I|ASTN1_ENST00000424564.2_Silent_p.I1107I	p.I1115I			O14525	ASTN1_HUMAN			20	3358	-			1115			Fibronectin type-III 1.		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.3345C>T																																																																																					0.507	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		7	46	0	0	0	1	0	7	46					A	176852036	G	A	176852036	2	1	156	1	0	0	0	0	0	0	0	1	1064	932	33	2		2	ASTN1	1	176852036	Silent	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08	67291850	176852036	72398585	4	3232											
USH2A	7399	broad.mit.edu	37	chr1	215844402	215844402	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttaggactggattggattttCtaggctgagttgctatttgt	12	4	1	1			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr1:215844402C>G	ENST00000307340.3	-	64	14431	c.14045G>C	c.(14044-14046)aGa>aCa	p.R4682T	USH2A_ENST00000366943.2_Missense_Mutation_p.R4682T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4682	Fibronectin type-III 32. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTGGATTTTCTAGGCTGAGT	0.388										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(14044-14046)aGa>aCa		Usher syndrome 2A (autosomal recessive, mild)							173	170	171					1																	215844402		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215844402C>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.14045G>C	1.37:g.215844402C>G	ENSP00000305941:p.Arg4682Thr	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.R4682T	p.R4682T			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	64	14431	-			4682			Fibronectin type-III 32.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.14045G>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	3.903	-0.021558	0.07634	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.52754	0.65;0.65	5.09	2.19	0.27852	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.605103	0.13682	U	0.370113	T	0.20820	0.0501	N	0.11201	0.11	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.18398	-1.0338	10	0.14252	T	0.57	.	1.4075	0.02283	0.1857:0.4565:0.1205:0.2373	.	4682	O75445	USH2A_HUMAN	T	4682	ENSP00000305941:R4682T;ENSP00000355910:R4682T	ENSP00000305941:R4682T	R	-	2	0	USH2A	213911025	0.004000	0.15560	0.003000	0.11579	0.029000	0.11900	2.083000	0.41615	0.259000	0.21709	0.557000	0.71058	AGA		0.388	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		10	106	0	0	0	1	0	10	106					G	215844402	C	G	215844402	3	3	156	1	0	0	0	0	1	0	0	0	17033	913	32	4	1599	4	USH2A	1	215844402	Missense_Mutation	SNP	C	TCGA-DJ-A4UT-01A-11D-A257-08	38992366	215844402	33406219	5	3233											
TARBP1	6894	broad.mit.edu	37	chr1	234528271	234528271	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttctgttttcttctgctgcaGataatcaattagctgaggtg	9	7	4	2			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr1:234528271G>C	ENST00000040877.1	-	29	4587	c.4588C>G	c.(4588-4590)Ctg>Gtg	p.L1530V	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1530					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)	p.L1530V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TTCTGCTGCAGATAATCAATT	0.348																																						ENST00000040877.1																			1	Substitution - Missense(1)	p.L1530V(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55						c.(4588-4590)Ctg>Gtg		TAR (HIV-1) RNA binding protein 1							151	148	149					1																	234528271		2203	4300	6503	SO:0001583	missense	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234528271G>C		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"tRNA methyltransferase 3 homolog (S. cerevisiae)"	605052	"Tar (HIV-1) RNA binding protein 1"			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.4588C>G	1.37:g.234528271G>C	ENSP00000040877:p.Leu1530Val					TARBP1_ENST00000483404.1_5'UTR	p.L1530V	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		29	4587	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	1530					Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	c.4588C>G	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.918551	0.33908	.	.	ENSG00000059588	ENST00000040877	T	0.50548	0.74	5.72	3.52	0.40303	tRNA/rRNA methyltransferase, SpoU (1);	0.000000	0.64402	D	0.000003	T	0.66177	0.2763	M	0.84683	2.71	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.66720	-0.5852	10	0.46703	T	0.11	-13.6468	6.5681	0.22523	0.3607:0.0:0.6393:0.0	.	1530	Q13395	TARB1_HUMAN	V	1530	ENSP00000040877:L1530V	ENSP00000040877:L1530V	L	-	1	2	TARBP1	232594894	1.000000	0.71417	0.973000	0.42090	0.220000	0.24768	3.413000	0.52686	1.436000	0.47453	-0.237000	0.12165	CTG		0.348	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		18	85	0	0	0	1	0	18	85					C	234528271	G	C	234528271	3	2	156	1	0	0	0	0	1	0	0	0	15552	933	33	4	285	4	TARBP1	1	234528271	Missense_Mutation	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08	18683869	234528271	14722350	6	3234											
EIF2AK2	5610	broad.mit.edu	37	chr2	37334481	37334481	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agtcaaggtccttagtatttCagatgtgttaggtcgatcct	10	7	2	1			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr2:37334481C>T	ENST00000233057.4	-	17	1913	c.1591G>A	c.(1591-1593)Gaa>Aaa	p.E531K	EIF2AK2_ENST00000405334.1_Missense_Mutation_p.E490K|EIF2AK2_ENST00000395127.2_Missense_Mutation_p.E531K	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	531	Interaction with TRAF5.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|evasion or tolerance by virus of host immune response (GO:0030683)|innate immune response (GO:0045087)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production (GO:0001819)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of hematopoietic progenitor cell differentiation (GO:1901532)|regulation of hematopoietic stem cell differentiation (GO:1902036)|regulation of hematopoietic stem cell proliferation (GO:1902033)|regulation of NLRP3 inflammasome complex assembly (GO:1900225)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				CTTAGTATTTCAGATGTGTTA	0.383																																						ENST00000233057.4																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22						c.(1591-1593)Gaa>Aaa		eukaryotic translation initiation factor 2-alpha kinase 2							146	136	139					2																	37334481		2203	4300	6503	SO:0001583	missense	5610				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity	g.chr2:37334481C>T	BC057805	CCDS1786.1, CCDS46259.1	2p22-p21	2014-06-12	2005-01-19	2005-01-19	ENSG00000055332	ENSG00000055332			9437	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 83"	176871	"protein kinase, interferon-inducible double stranded RNA dependent"	PRKR		1351683	Standard	NM_001135651		Approved	PKR, EIF2AK1, PPP1R83	uc010fac.3	P19525	OTTHUMG00000100962	ENST00000233057.4:c.1591G>A	2.37:g.37334481C>T	ENSP00000233057:p.Glu531Lys					EIF2AK2_ENST00000405334.1_Missense_Mutation_p.E490K|EIF2AK2_ENST00000395127.2_Missense_Mutation_p.E531K	p.E531K	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN			17	1913	-		all_hematologic(82;0.248)	531			Protein kinase.		A8K3P0|D6W584|E9PC80|Q52M43|Q7Z6F6|Q9UIR4	Missense_Mutation	SNP	ENST00000233057.4	37	c.1591G>A	CCDS1786.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827123	0.71143	.	.	ENSG00000055332	ENST00000233057;ENST00000395127;ENST00000405334	T;T;T	0.56275	0.47;0.47;0.47	5.18	0.17	0.15021	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.578922	0.16560	N	0.209093	T	0.47451	0.1446	L	0.48642	1.525	0.09310	N	0.999996	P;P	0.52692	0.955;0.519	P;B	0.50049	0.629;0.188	T	0.37478	-0.9704	10	0.59425	D	0.04	-13.6678	4.6237	0.12467	0.1456:0.5162:0.0:0.3382	.	531;490	P19525;E9PC80	E2AK2_HUMAN;.	K	531;531;490	ENSP00000233057:E531K;ENSP00000378559:E531K;ENSP00000385014:E490K	ENSP00000233057:E531K	E	-	1	0	EIF2AK2	37187985	0.137000	0.22531	0.054000	0.19295	0.483000	0.33249	0.284000	0.18864	0.033000	0.15463	-0.253000	0.11424	GAA		0.383	EIF2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218571.2	NM_002759		4	58	0	0	0	1	0	4	58					T	37334481	C	T	37334481	3	4	156	1	0	0	0	0	1	0	0	0	4997	835	29	2	68	2	EIF2AK2	2	37334481	Missense_Mutation	SNP	C	TCGA-DJ-A4UT-01A-11D-A257-08		37334481	205864892	7	3235											
CHST10	9486	broad.mit.edu	37	chr2	101009860	101009860	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtaatgcccggagggatagtCgggtatgacaccaggtggtc	16	8	0	1	rs371699053		TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr2:101009860C>T	ENST00000264249.3	-	7	1303	c.918G>A	c.(916-918)ccG>ccA	p.P306P	CHST10_ENST00000542617.1_Silent_p.P354P|CHST10_ENST00000409701.1_Silent_p.P306P	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	306					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						GAGGGATAGTCGGGTATGACA	0.522																																						ENST00000264249.3																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						c.(916-918)ccG>ccA		carbohydrate sulfotransferase 10		C		0,4406		0,0,2203	160	134	143		918	-10.6	0.5	2		143	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CHST10	NM_004854.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		306/357	101009860	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9486				carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction		g.chr2:101009860C>T	BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"Sulfotransferases, membrane-bound"	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.918G>A	2.37:g.101009860C>T						CHST10_ENST00000542617.1_Silent_p.P354P|CHST10_ENST00000409701.1_Silent_p.P306P	p.P306P	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN			7	1303	-			306					Q53T18	Silent	SNP	ENST00000264249.3	37	c.918G>A	CCDS2047.1																																																																																				0.522	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253162.1	NM_004854		8	89	0	0	0	1	0	8	89					T	101009860	C	T	101009860	2	4	156	1	0	0	0	0	0	0	0	1	3398	871	31	1		1	CHST10	2	101009860	Silent	SNP	C	TCGA-DJ-A4UT-01A-11D-A257-08	63675379	101009860	142189513	8	3236											
TGFBRAP1	9392	broad.mit.edu	37	chr2	105924339	105924339	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gttctgcgtttgacagagatGatgcaaacttctacacagaa	9	8	2	4			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr2:105924339G>A	ENST00000393359.2	-	2	846	c.420C>T	c.(418-420)atC>atT	p.I140I	TGFBRAP1_ENST00000258449.1_Silent_p.I140I			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	140	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TGACAGAGATGATGCAAACTT	0.592																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	ENST00000393359.2																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(418-420)atC>atT		transforming growth factor, beta receptor associated protein 1							134	137	136					2																	105924339		2203	4300	6503	SO:0001819	synonymous_variant	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105924339G>A	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.420C>T	2.37:g.105924339G>A						TGFBRAP1_ENST00000258449.1_Silent_p.I140I	p.I140I			Q8WUH2	TGFA1_HUMAN			2	846	-			140			CNH.		A8K5R7|D3DVJ8|O60466	Silent	SNP	ENST00000393359.2	37	c.420C>T	CCDS2067.1																																																																																				0.592	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		26	131	0	0	0	1	0	26	131					A	105924339	G	A	105924339	2	1	156	1	0	0	0	0	0	0	0	1	15821	1280	45	2		2	TGFBRAP1	2	105924339	Silent	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08	4914479	105924339	137275034	9	3237											
WDR33	55339	broad.mit.edu	37	chr2	128467330	128467330	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggccgcttcctcagaagcatCaaaattctcctctggaccaa	7	14	4	1			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr2:128467330C>T	ENST00000322313.4	-	19	3567	c.3409G>A	c.(3409-3411)Gat>Aat	p.D1137N		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1137					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCAGAAGCATCAAAATTCTCC	0.577																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(3409-3411)Gat>Aat		WD repeat domain 33							92	104	100					2																	128467330		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128467330C>T		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"WD repeat domain containing"	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3409G>A	2.37:g.128467330C>T	ENSP00000325377:p.Asp1137Asn						p.D1137N	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	19	3567	-	Colorectal(110;0.1)		1137					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.3409G>A	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	36	5.620043	0.96660	.	.	ENSG00000136709	ENST00000322313	D	0.92752	-3.1	5.32	5.32	0.75619	.	0.059851	0.64402	D	0.000004	D	0.92254	0.7543	N	0.19112	0.55	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	D	0.89894	0.4039	10	0.17832	T	0.49	-12.4855	18.9833	0.92762	0.0:1.0:0.0:0.0	.	1137	Q9C0J8	WDR33_HUMAN	N	1137	ENSP00000325377:D1137N	ENSP00000325377:D1137N	D	-	1	0	WDR33	128183800	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.677000	0.61634	2.493000	0.84123	0.561000	0.74099	GAT		0.577	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		7	131	0	0	0	1	0	7	131					T	128467330	C	T	128467330	3	4	156	1	0	0	0	0	1	0	0	0	17284	826	29	2	617	2	WDR33	2	128467330	Missense_Mutation	SNP	C	TCGA-DJ-A4UT-01A-11D-A257-08	22542991	128467330	114732043	10	3238											
DNAH1	25981	broad.mit.edu	37	chr3	52393384	52393384	+	Frame_Shift_Del	DEL	C	C	-													aacctcagaagccaactgttCccccagctctgccagcaggt							TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr3:52393384delC	ENST00000420323.2	+	26	4650	c.4389delC	c.(4387-4389)ttcfs	p.F1463fs		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1463	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCCAACTGTTCCCCCAGCTCT	0.637																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(4387-4389)ttfs		dynein, axonemal, heavy chain 1							31	40	37					3																	52393384		1948	4137	6085	SO:0001589	frameshift_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52393384delC	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.4389delC	3.37:g.52393384delC	ENSP00000401514:p.Phe1463fs						p.F1463fs	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	26	4650	+			1463			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Frame_Shift_Del	DEL	ENST00000420323.2	37	c.4389delC	CCDS46842.1																																																																																				0.637	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		2	4						2	4	---	---	---	---	-	52393384	C	-	52393384	7	5	156	1	0	1	0	1	0	0	0	0	4597	854	30	0	4487	0	DNAH1	3	52393384	Frame_Shift_Del	DEL	C	TCGA-DJ-A4UT-01A-11D-A257-08		52393384	145629046	11	3239											
RNF13	11342	broad.mit.edu	37	chr3	149677884	149677884	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccatttgtttggatgagtatGaagatggagacaaactcaga	11	5	1	5			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr3:149677884G>A	ENST00000344229.3	+	10	1444	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	RNF13_ENST00000392894.3_Missense_Mutation_p.E248K|RNF13_ENST00000361785.6_Missense_Mutation_p.E129K	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	248					protein autoubiquitination (GO:0051865)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGATGAGTATGAAGATGGAGA	0.323																																						ENST00000344229.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11						c.(742-744)Gaa>Aaa		ring finger protein 13							222	226	225					3																	149677884		2203	4300	6503	SO:0001583	missense	11342				protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:149677884G>A	AF037204	CCDS3146.1	3q25.1	2013-01-09			ENSG00000082996	ENSG00000082996		"RING-type (C3HC4) zinc fingers"	10057	protein-coding gene	gene with protein product		609247					Standard	NM_183381		Approved	RZF	uc003exp.4	O43567	OTTHUMG00000150338	ENST00000344229.3:c.742G>A	3.37:g.149677884G>A	ENSP00000341361:p.Glu248Lys					RNF13_ENST00000361785.6_Missense_Mutation_p.E129K|RNF13_ENST00000392894.3_Missense_Mutation_p.E248K	p.E248K	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		10	1444	+		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	248					A6NC87|B3KR12|Q05D66|Q6IBJ9	Missense_Mutation	SNP	ENST00000344229.3	37	c.742G>A	CCDS3146.1	.	.	.	.	.	.	.	.	.	.	G	34	5.338421	0.95783	.	.	ENSG00000082996	ENST00000392894;ENST00000344229;ENST00000491086;ENST00000467977;ENST00000543506;ENST00000361785;ENST00000482083	T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95	6.06	6.06	0.98353	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.40067	0.1102	N	0.11651	0.15	0.80722	D	1	P;B	0.49696	0.927;0.425	P;B	0.58620	0.842;0.414	T	0.08472	-1.0720	10	0.02654	T	1	-32.1258	20.6208	0.99490	0.0:0.0:1.0:0.0	.	129;248	B3KR12;O43567	.;RNF13_HUMAN	K	248;248;129;129;248;129;129	ENSP00000376628:E248K;ENSP00000341361:E248K;ENSP00000420667:E129K;ENSP00000418308:E129K;ENSP00000355268:E129K;ENSP00000418863:E129K	ENSP00000341361:E248K	E	+	1	0	RNF13	151160574	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.285000	0.78660	2.882000	0.98803	0.655000	0.94253	GAA		0.323	RNF13-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356876.1	NM_183384		14	116	0	0	0	1	0	14	116					A	149677884	G	A	149677884	3	1	156	1	0	0	0	0	1	0	0	0	13437	1291	45	2	772	2	RNF13	3	149677884	Missense_Mutation	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08	97284500	149677884	48344546	12	3240											
UGT2B7	7364	broad.mit.edu	37	chr4	69962284	69962284	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttttgctaatacaactgagcTtttgctttagctctgggaat	8	7	1	1			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr4:69962284T>A	ENST00000508661.1	+	1	73	c.46T>A	c.(46-48)Ttt>Att	p.F16I	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000305231.7_Missense_Mutation_p.F16I			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	16					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	ACAACTGAGCTTTTGCTTTAG	0.418																																						ENST00000305231.7																			0				autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(46-48)Ttt>Att		UDP glucuronosyltransferase 2 family, polypeptide B7							141	140	140					4																	69962284		2203	4300	6503	SO:0001583	missense	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69962284T>A	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"UDP glucuronosyltransferases"	12554	protein-coding gene	gene with protein product		600068	"UDP glycosyltransferase 2 family, polypeptide B7"			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.46T>A	4.37:g.69962284T>A	ENSP00000427659:p.Phe16Ile					UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Missense_Mutation_p.F16I	p.F16I	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN			1	92	+			16					B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000508661.1	37	c.46T>A		.	.	.	.	.	.	.	.	.	.	T	9.110	1.006360	0.19199	.	.	ENSG00000171234	ENST00000305231;ENST00000508661	T;T	0.60171	0.21;0.82	2.54	1.25	0.21368	.	0.425221	0.19424	U	0.114608	T	0.38268	0.1034	L	0.28192	0.835	0.09310	N	1	B;B	0.20368	0.044;0.012	B;B	0.25759	0.063;0.004	T	0.18967	-1.0320	9	.	.	.	.	5.9873	0.19442	0.2313:0.0:0.0:0.7687	.	16;16	E9PBP8;P16662	.;UD2B7_HUMAN	I	16	ENSP00000304811:F16I;ENSP00000427659:F16I	.	F	+	1	0	UGT2B7	69996873	0.036000	0.19791	0.000000	0.03702	0.038000	0.13279	2.489000	0.45285	0.183000	0.20059	0.260000	0.18958	TTT		0.418	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074		33	67	0	0	0	1	0	33	67					A	69962284	T	A	69962284	3	1	156	1	0	0	0	0	1	0	0	0	16959	1609	56	5	48	5	UGT2B7	4	69962284	Missense_Mutation	SNP	T	TCGA-DJ-A4UT-01A-11D-A257-08		69962284	121191992	13	3241											
C6	729	broad.mit.edu	37	chr5	41203192	41203192	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacaaagctcacacccacctGtgtctgctctgggttccaga	8	15	3	1			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr5:41203192G>T	ENST00000263413.3	-	2	405	c.141C>A	c.(139-141)caC>caA	p.H47Q	C6_ENST00000337836.5_Missense_Mutation_p.H47Q	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	47	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ACACCCACCTGTGTCTGCTCT	0.483																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(139-141)caC>caA		complement component 6							211	216	214					5																	41203192		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41203192G>T	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"Complement system"	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.141C>A	5.37:g.41203192G>T	ENSP00000263413:p.His47Gln					C6_ENST00000337836.5_Missense_Mutation_p.H47Q	p.H47Q	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			2	405	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	47			TSP type-1 1.			Missense_Mutation	SNP	ENST00000263413.3	37	c.141C>A	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	G	9.044	0.990303	0.18966	.	.	ENSG00000039537	ENST00000337836;ENST00000263413;ENST00000417809	T;T;T	0.50548	0.74;0.74;0.74	5.81	-3.77	0.04346	.	1.274360	0.04720	N	0.419149	T	0.17023	0.0409	N	0.02158	-0.66	0.09310	N	0.999998	B	0.09022	0.002	B	0.10450	0.005	T	0.08269	-1.0730	10	0.23891	T	0.37	-23.6411	1.7424	0.02955	0.1858:0.18:0.3769:0.2573	.	47	P13671	CO6_HUMAN	Q	47	ENSP00000338861:H47Q;ENSP00000263413:H47Q;ENSP00000396565:H47Q	ENSP00000263413:H47Q	H	-	3	2	C6	41238949	0.000000	0.05858	0.944000	0.38274	0.768000	0.43524	-1.428000	0.02439	-0.420000	0.07427	-0.283000	0.09986	CAC		0.483	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			25	164	1	0	6.36457e-07	1	6.46891e-07	25	164					T	41203192	G	T	41203192	3	4	156	1	0	0	0	0	1	0	0	0	2315	1368	48	4	2731	4	C6	5	41203192	Missense_Mutation	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08		41203192	139712068	14	3242											
LNPEP	4012	broad.mit.edu	37	chr5	96349489	96349489	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taaatccttatgttctgagtGacaaagaccgagccaacctt	7	10	1	3			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr5:96349489G>A	ENST00000231368.5	+	12	2865	c.2173G>A	c.(2173-2175)Gac>Aac	p.D725N	LNPEP_ENST00000395770.3_Missense_Mutation_p.D711N	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	725					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-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TGTTCTGAGTGACAAAGACCG	0.328																																						ENST00000231368.5																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34						c.(2173-2175)Gac>Aac		leucyl/cystinyl aminopeptidase							149	147	148					5																	96349489		2203	4300	6503	SO:0001583	missense	4012				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96349489G>A	D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"cystinyl aminopeptidase", "placental leucine aminopeptidase"	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.2173G>A	5.37:g.96349489G>A	ENSP00000231368:p.Asp725Asn					LNPEP_ENST00000395770.3_Missense_Mutation_p.D711N	p.D725N	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN		COAD - Colon adenocarcinoma(37;0.072)	12	2865	+		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)	725					O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Missense_Mutation	SNP	ENST00000231368.5	37	c.2173G>A	CCDS4087.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741004	0.49151	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.05580	3.42;3.42	5.27	5.27	0.74061	.	0.714464	0.14270	N	0.330201	T	0.10508	0.0257	L	0.40543	1.245	0.24587	N	0.993846	P	0.39964	0.697	P	0.48738	0.588	T	0.23297	-1.0192	10	0.27785	T	0.31	.	10.1736	0.42924	0.0:0.1469:0.7012:0.1519	.	725	Q9UIQ6	LCAP_HUMAN	N	725;711	ENSP00000231368:D725N;ENSP00000379117:D711N	ENSP00000231368:D725N	D	+	1	0	LNPEP	96375245	0.995000	0.38212	1.000000	0.80357	0.982000	0.71751	0.286000	0.18902	2.444000	0.82710	0.650000	0.86243	GAC		0.328	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575		19	118	0	0	0	1	0	19	118					A	96349489	G	A	96349489	3	1	156	1	0	0	0	0	1	0	0	0	8864	1290	45	2	2219	2	LNPEP	5	96349489	Missense_Mutation	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08	55146297	96349489	84565771	15	3243											
ZNF165	7718	broad.mit.edu	37	chr6	28056396	28056396	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggaaatttttgaaaaaatTgaatcacagagaattatatc	6	4	1	3			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr6:28056396T>C	ENST00000377325.1	+	4	1162	c.606T>C	c.(604-606)atT>atC	p.I202I	ZSCAN12P1_ENST00000529104.1_RNA	NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	202					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)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTGAAAAAATTGAATCACAGA	0.363																																						ENST00000377325.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(604-606)atT>atC		zinc finger protein 165							65	75	72					6																	28056396		2199	4300	6499	SO:0001819	synonymous_variant	7718				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28056396T>C	U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"-", "Zinc fingers, C2H2-type"	12953	protein-coding gene	gene with protein product	"cancer/testis antigen 53"	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.606T>C	6.37:g.28056396T>C							p.I202I	NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN			4	1162	+			202						Silent	SNP	ENST00000377325.1	37	c.606T>C	CCDS4643.1																																																																																				0.363	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040173.1	NM_003447		33	74	0	0	0	1	0	33	74					C	28056396	T	C	28056396	2	2	156	1	0	0	0	0	0	0	0	1	17737	1800	63	3		3	ZNF165	6	28056396	Silent	SNP	T	TCGA-DJ-A4UT-01A-11D-A257-08		28056396	143058671	16	3244											
ZPBP	11055	broad.mit.edu	37	chr7	50129291	50129291	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgaaaagctcttggtaatcGaaccaagtgtccaactatca	8	10	2	0			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr7:50129291G>A	ENST00000046087.2	-	2	211	c.142C>T	c.(142-144)Cga>Tga	p.R48*	ZPBP_ENST00000419417.1_Nonsense_Mutation_p.R48*	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	48					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					CTTGGTAATCGAACCAAGTGT	0.284																																						ENST00000046087.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29						c.(142-144)Cga>Tga		zona pellucida binding protein							33	34	33					7																	50129291		2203	4298	6501	SO:0001587	stop_gained	11055				binding of sperm to zona pellucida	extracellular region		g.chr7:50129291G>A	D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.142C>T	7.37:g.50129291G>A	ENSP00000046087:p.Arg48*					ZPBP_ENST00000419417.1_Nonsense_Mutation_p.R48*	p.R48*	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN			2	211	-	Glioma(55;0.08)|all_neural(89;0.245)		48					A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Nonsense_Mutation	SNP	ENST00000046087.2	37	c.142C>T	CCDS5509.1	.	.	.	.	.	.	.	.	.	.	G	33	5.259065	0.95368	.	.	ENSG00000042813	ENST00000046087;ENST00000419417;ENST00000450231	.	.	.	5.49	4.6	0.57074	.	0.365143	0.20359	N	0.093885	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.6381	13.7355	0.62815	0.0:0.0:0.8368:0.1632	.	.	.	.	X	48;48;9	.	.	R	-	1	2	ZPBP	50099837	0.956000	0.32656	0.839000	0.33178	0.855000	0.48748	2.010000	0.40913	1.425000	0.47237	0.557000	0.71058	CGA		0.284	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1	NM_007009		3	22	0	0	0	1	0	3	22					A	50129291	G	A	50129291	4	1	156	1	0	0	0	0	0	1	0	0	18216	1066	37	1	941	1	ZPBP	7	50129291	Nonsense_Mutation	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08		50129291	109009372	17	3245											
MLL3	58508	broad.mit.edu	37	chr7	151962127	151962127	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatgaaaacttacttgcAgttctggcacactttgcact	7	9	1	2			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr7:151962127A>T	ENST00000262189.6	-	8	1398	c.1180T>A	c.(1180-1182)Tgc>Agc	p.C394S	KMT2C_ENST00000355193.2_Missense_Mutation_p.C394S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	394					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ACTTACTTGCAGTTCTGGCAC	0.408																																						ENST00000355193.2																			0											c.(1180-1182)Tgc>Agc		lysine (K)-specific methyltransferase 2C							191	177	182					7																	151962127		2203	4297	6500	SO:0001583	missense	58508							g.chr7:151962127A>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1180T>A	7.37:g.151962127A>T	ENSP00000262189:p.Cys394Ser					KMT2C_ENST00000262189.6_Missense_Mutation_p.C394S	p.C394S							8	1398	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.1180T>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	A	18.31	3.596204	0.66332	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.99954	-8.82;-8.82	4.53	4.53	0.55603	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.46145	U	0.000314	D	0.99964	0.9986	H	0.98295	4.195	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.96248	0.9181	10	0.87932	D	0	.	14.1658	0.65475	1.0:0.0:0.0:0.0	.	394	Q8NEZ4	MLL3_HUMAN	S	394	ENSP00000262189:C394S;ENSP00000347325:C394S	ENSP00000262189:C394S	C	-	1	0	MLL3	151593060	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.287000	0.95975	1.791000	0.52520	0.377000	0.23210	TGC		0.408	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			11	253	0	0	0	1	0	11	253					T	151962127	A	T	151962127	3	4	156	1	0	0	0	0	1	0	0	0	9622	188	7	5	13763	5	MLL3	7	151962127	Missense_Mutation	SNP	A	TCGA-DJ-A4UT-01A-11D-A257-08	101832836	151962127	7176536	18	3246											
LRRC19	64922	broad.mit.edu	37	chr9	26995683	26995683	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atttccagtaaaaccatcttCataggtttctgcttcatgct	5	10	4	0			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr9:26995683C>G	ENST00000380055.5	-	5	1059	c.949G>C	c.(949-951)Gaa>Caa	p.E317Q	IFT74_ENST00000433700.1_Intron|IFT74_ENST00000380062.5_Intron|IFT74_ENST00000443698.1_Intron|IFT74_ENST00000429045.2_Intron|LRRC19_ENST00000482770.1_5'UTR	NM_022901.2	NP_075052.1	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19	317						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|lung(2)	6		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		AAACCATCTTCATAGGTTTCT	0.343																																						ENST00000380055.5																			0				breast(1)|endometrium(2)|kidney(1)|lung(2)	6						c.(949-951)Gaa>Caa		leucine rich repeat containing 19							128	127	128					9																	26995683		2203	4300	6503	SO:0001583	missense	64922					integral to membrane		g.chr9:26995683C>G	AK024955	CCDS6518.1	9p21.1	2008-02-05			ENSG00000184434	ENSG00000184434			23379	protein-coding gene	gene with protein product							Standard	NM_022901		Approved	FLJ21302	uc003zqh.3	Q9H756	OTTHUMG00000019710	ENST00000380055.5:c.949G>C	9.37:g.26995683C>G	ENSP00000369395:p.Glu317Gln					IFT74_ENST00000443698.1_Intron|IFT74_ENST00000380062.5_Intron|IFT74_ENST00000433700.1_Intron|LRRC19_ENST00000482770.1_5'UTR|IFT74_ENST00000429045.2_Intron	p.E317Q	NM_022901.2	NP_075052.1	Q9H756	LRC19_HUMAN		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)	5	1059	-		all_neural(11;1.81e-09)	317					A0AV00|B9EG91	Missense_Mutation	SNP	ENST00000380055.5	37	c.949G>C	CCDS6518.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.171881	0.38315	.	.	ENSG00000184434	ENST00000380055	T	0.54479	0.57	5.55	3.71	0.42584	.	0.837919	0.10910	N	0.620714	T	0.58466	0.2124	L	0.60455	1.87	0.31775	N	0.631625	D	0.57899	0.981	P	0.49637	0.617	T	0.62695	-0.6800	10	0.72032	D	0.01	-0.0482	11.7226	0.51691	0.0:0.8579:0.0:0.1421	.	317	Q9H756	LRC19_HUMAN	Q	317	ENSP00000369395:E317Q	ENSP00000369395:E317Q	E	-	1	0	LRRC19	26985683	0.996000	0.38824	0.105000	0.21289	0.060000	0.15804	2.360000	0.44151	0.716000	0.32124	-0.225000	0.12378	GAA		0.343	LRRC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051961.2	NM_022901		8	60	0	0	0	1	0	8	60					G	26995683	C	G	26995683	3	3	156	1	0	0	0	0	1	0	0	0	8975	835	29	4	167	4	LRRC19	9	26995683	Missense_Mutation	SNP	C	TCGA-DJ-A4UT-01A-11D-A257-08		26995683	114217748	19	3247											
IDI2	91734	broad.mit.edu	37	chr10	1070568	1070568	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caattcctcttggtgtcggcAccaataaccttatcattctc	5	13	3	0			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr10:1070568A>G	ENST00000277517.1	-	2	160	c.96T>C	c.(94-96)ggT>ggC	p.G32G	IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000434470.1_RNA	NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2	32					cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isopentenyl diphosphate metabolic process (GO:0046490)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		TGGTGTCGGCACCAATAACCT	0.473																																						ENST00000277517.1																			0				kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(94-96)ggT>ggC		isopentenyl-diphosphate delta isomerase 2							143	120	128					10																	1070568		2203	4300	6503	SO:0001819	synonymous_variant	91734				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding	g.chr10:1070568A>G	AF271725	CCDS7055.1	10p15.3	2003-11-19			ENSG00000148377	ENSG00000148377			23487	protein-coding gene	gene with protein product		615389				12477932	Standard	NM_033261		Approved	IPPI2	uc001ifv.1	Q9BXS1	OTTHUMG00000017537	ENST00000277517.1:c.96T>C	10.37:g.1070568A>G						IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000434470.1_RNA|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000437374.1_RNA	p.G32G	NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)	2	160	-		Colorectal(49;0.235)	32						Silent	SNP	ENST00000277517.1	37	c.96T>C	CCDS7055.1																																																																																				0.473	IDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046411.1	NM_033261		18	41	0	0	0	1	0	18	41					G	1070568	A	G	1070568	2	3	156	1	0	0	0	0	0	0	0	1	7500	146	6	3		3	IDI2	10	1070568	Silent	SNP	A	TCGA-DJ-A4UT-01A-11D-A257-08		1070568	134464179	20	3248											
SPAG6	9576	broad.mit.edu	37	chr10	22675710	22675710	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	acaagctgtggtggatgcagGagctgttcctcttttagtac	12	8	1	0			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr10:22675710G>C	ENST00000376624.3	+	5	642	c.500G>C	c.(499-501)gGa>gCa	p.G167A	SPAG6_ENST00000376603.2_Missense_Mutation_p.G243A|SPAG6_ENST00000313311.6_Missense_Mutation_p.G167A|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000538630.1_Missense_Mutation_p.G142A|SPAG6_ENST00000376601.1_Intron	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	167					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						GTGGATGCAGGAGCTGTTCCT	0.463																																						ENST00000376603.2																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						c.(727-729)gGa>gCa		sperm associated antigen 6							110	102	105					10																	22675710		2203	4300	6503	SO:0001583	missense	9576				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding	g.chr10:22675710G>C	AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"Armadillo repeat containing"	11215	protein-coding gene	gene with protein product	"axoneme central apparatus protein"	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.500G>C	10.37:g.22675710G>C	ENSP00000365811:p.Gly167Ala					SPAG6_ENST00000538630.1_Missense_Mutation_p.G142A|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376624.3_Missense_Mutation_p.G167A|SPAG6_ENST00000376601.1_Intron|SPAG6_ENST00000313311.6_Missense_Mutation_p.G167A	p.G243A			O75602	SPAG6_HUMAN			5	870	+			167					A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Missense_Mutation	SNP	ENST00000376624.3	37	c.728G>C	CCDS7139.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.654449	0.88056	.	.	ENSG00000077327	ENST00000376624;ENST00000376603;ENST00000538630;ENST00000313311;ENST00000435326	D;D;D;D;T	0.83755	-1.76;-1.76;-1.76;-1.76;0.15	5.6	5.6	0.85130	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.94377	0.8192	H	0.96365	3.81	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.999;0.999	D;D;D;D	0.73380	0.98;0.967;0.967;0.98	D	0.95486	0.8565	10	0.87932	D	0	-27.5983	19.9756	0.97304	0.0:0.0:1.0:0.0	.	142;243;167;167	B4DXZ4;O75602-3;O75602-2;O75602	.;.;.;SPAG6_HUMAN	A	167;243;142;167;243	ENSP00000365811:G167A;ENSP00000365788:G243A;ENSP00000441325:G142A;ENSP00000323599:G167A;ENSP00000406594:G243A	ENSP00000323599:G167A	G	+	2	0	SPAG6	22715716	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.772000	0.98984	2.793000	0.96121	0.563000	0.77884	GGA		0.463	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047187.1			4	72	0	0	0	1	0	4	72					C	22675710	G	C	22675710	3	2	156	1	0	0	0	0	1	0	0	0	14982	1174	41	4	518	4	SPAG6	10	22675710	Missense_Mutation	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08	21605142	22675710	112859037	21	3249											
SFTPA2	729238	broad.mit.edu	37	chr10	81318681	81318681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctcccccttctctccacGctctccagggacaccagggg	9	19	2	0	rs150273659	byFrequency	TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr10:81318681G>A	ENST00000372325.2	-	4	337	c.253C>T	c.(253-255)Cgt>Tgt	p.R85C	SFTPA2_ENST00000372327.5_Missense_Mutation_p.R85C	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	85	Collagen-like.				respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			TTCTCTCCACGCTCTCCAGGG	0.627									Pulmonary Fibrosis, Idiopathic				G|||	24	0.00479233	0.0045	0	5008	,	,		17841	0.0159		0	False		,,,				2504	0.002					ENST00000372325.2																			0				endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9						c.(253-255)Cgt>Tgt		surfactant protein A2		G	CYS/ARG	33,4373		0,33,2170	108	121	117		253	2.9	1.0	10	dbSNP_134	117	10,8582		0,10,4286	no	missense	SFTPA2	NM_001098668.2	180	0,43,6456	AA,AG,GG		0.1164,0.749,0.3308	benign	85/249	81318681	43,12955	2203	4296	6499	SO:0001583	missense	729238	Pulmonary Fibrosis, Idiopathic	Familial Cancer Database	Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia	cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding	g.chr10:81318681G>A		CCDS41540.1	10q22.3	2012-11-02	2008-08-26			ENSG00000185303		"Collectins"	10799	protein-coding gene	gene with protein product	"surfactant, pulmonary-associated protein A2A"	178642	"surfactant, pulmonary-associated protein A2"				Standard	NM_001098668		Approved	SP-A2, COLEC5	uc001kal.4	Q8IWL1		ENST00000372325.2:c.253C>T	10.37:g.81318681G>A	ENSP00000361400:p.Arg85Cys					SFTPA2_ENST00000372327.5_Missense_Mutation_p.R85C	p.R85C	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)		4	337	-	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		85			Collagen-like.		A4QPA7|B2RXI6|B2RXK9|C9J9I7|E3VLC6|E3VLC7|E3VLC8|E3VLC9|P07714|Q14DV3|Q5RIR8|Q5RIR9	Missense_Mutation	SNP	ENST00000372325.2	37	c.253C>T	CCDS41540.1	8	0.003663003663003663	1	0.0020325203252032522	0	0.0	7	0.012237762237762238	0	0.0	N	4.066	0.009984	0.07912	0.00749	0.001164	ENSG00000185303	ENST00000372325;ENST00000537207;ENST00000372327;ENST00000417041	D;D;D	0.94417	-3.42;-3.42;-3.42	2.87	2.87	0.33458	.	0.455646	0.20973	N	0.082360	D	0.89757	0.6807	M	0.71036	2.16	0.26410	N	0.976274	B	0.09022	0.002	B	0.04013	0.001	D	0.83885	0.0281	10	0.40728	T	0.16	-0.1951	9.5435	0.39266	0.0:0.0:1.0:0.0	.	85	E3VLC8	.	C	85;51;85;85	ENSP00000361400:R85C;ENSP00000361402:R85C;ENSP00000397375:R85C	ENSP00000361400:R85C	R	-	1	0	SFTPA2	80988687	0.000000	0.05858	0.975000	0.42487	0.012000	0.07955	-0.048000	0.11944	1.329000	0.45376	0.423000	0.28283	CGT		0.627	SFTPA2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048961.1	NM_001098668		8	137	0	0	0	1	0	8	137					A	81318681	G	A	81318681	3	1	156	1	0	0	0	0	1	0	0	0	14190	1087	38	1	505	1	SFTPA2	10	81318681	Missense_Mutation	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08	58642971	81318681	54216066	22	3250											
GBF1	8729	broad.mit.edu	37	chr10	104140004	104140004	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagggggctggtgggccatAggtcttcctgcagcacctgt	16	10	1	0			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr10:104140004A>C	ENST00000369983.3	+	37	5135		c.e37-1			NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1						COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GGTGGGCCATAGGTCTTCCTG	0.572																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.e37-1		golgi brefeldin A resistant guanine nucleotide exchange factor 1							116	109	111					10																	104140004		2203	4300	6503	SO:0001630	splice_region_variant	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104140004A>C	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.4876-1A>C	10.37:g.104140004A>C								NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	37	5135	+		Colorectal(252;0.0236)						Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Splice_Site	SNP	ENST00000369983.3	37		CCDS7533.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.967434	0.74131	.	.	ENSG00000107862	ENST00000369983	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GBF1	104129994	1.000000	0.71417	0.990000	0.47175	0.790000	0.44656	9.152000	0.94680	2.254000	0.74563	0.533000	0.62120	.		0.572	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1		Intron	19	57	0	0	0	1	0	19	57					C	104140004	A	C	104140004	5	2	156	1	0	0	0	0	0	0	1	0	6271	434	15	5	5016	5	GBF1	10	104140004	Splice_Site	SNP	A	TCGA-DJ-A4UT-01A-11D-A257-08	22821323	104140004	31394743	23	3251											
SLC25A45	283130	broad.mit.edu	37	chr11	65144371	65144371	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccaccgtgggggtgtccctCagcgtcagggcccaggctcc	14	17	2	0			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr11:65144371C>A	ENST00000527174.1	-	5	571	c.516G>T	c.(514-516)ctG>ctT	p.L172L	SLC25A45_ENST00000294187.6_Silent_p.L130L|SLC25A45_ENST00000534028.1_Silent_p.L148L|SLC25A45_ENST00000417511.2_Silent_p.L130L|SLC25A45_ENST00000398802.1_Silent_p.L172L|SLC25A45_ENST00000377152.2_Silent_p.L68L|SLC25A45_ENST00000526432.1_Silent_p.L110L|SLC25A45_ENST00000360662.3_Silent_p.L148L|RP11-867O8.5_ENST00000533886.1_RNA			Q8N413	S2545_HUMAN	solute carrier family 25, member 45	172					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						GGGTGTCCCTCAGCGTCAGGG	0.652																																						ENST00000417511.2																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						c.(388-390)ctG>ctT		solute carrier family 25, member 45							76	80	79					11																	65144371		1966	4145	6111	SO:0001819	synonymous_variant	283130				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr11:65144371C>A	BC041100	CCDS41670.1, CCDS41671.1, CCDS60850.1	11q13.1	2013-05-22			ENSG00000162241	ENSG00000162241		"Solute carriers"	27442	protein-coding gene	gene with protein product		610825				16949250	Standard	XM_006718507		Approved		uc001odr.1	Q8N413	OTTHUMG00000166255	ENST00000527174.1:c.516G>T	11.37:g.65144371C>A						SLC25A45_ENST00000526432.1_Silent_p.L110L|SLC25A45_ENST00000294187.6_Silent_p.L130L|SLC25A45_ENST00000398802.1_Silent_p.L172L|SLC25A45_ENST00000360662.3_Silent_p.L148L|SLC25A45_ENST00000534028.1_Silent_p.L148L|SLC25A45_ENST00000377152.2_Silent_p.L68L|SLC25A45_ENST00000527174.1_Silent_p.L172L	p.L130L	NM_001278251.1	NP_001265180.1	Q8N413	S2545_HUMAN			9	1524	-			172					Q6PL49|Q8IW29	Silent	SNP	ENST00000527174.1	37	c.390G>T	CCDS41670.1																																																																																				0.652	SLC25A45-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388744.3	NM_182556		20	124	1	0	1.01871e-10	1	1.08897e-10	20	124					A	65144371	C	A	65144371	2	1	156	1	0	0	0	0	0	0	0	1	14510	813	29	4		4	SLC25A45	11	65144371	Silent	SNP	C	TCGA-DJ-A4UT-01A-11D-A257-08		65144371	69862145	24	3252											
PACS1	55690	broad.mit.edu	37	chr11	65838203	65838203	+	Frame_Shift_Del	DEL	G	G	-													atggccgtggcggtggcctcGggctccgcgcctcccggtgg					rs563612549		TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr11:65838203delG	ENST00000320580.4	+	1	279	c.246delG	c.(244-246)tcgfs	p.S82fs	RP11-1167A19.2_ENST00000529036.1_5'Flank	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	82	Ser-rich.				protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						CGGTGGCCTCGGGCTCCGCGC	0.741																																						ENST00000320580.4																		RBM14/PACS1(2)	0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						c.(244-246)tcfs		phosphofurin acidic cluster sorting protein 1							6	8	7					11																	65838203		2098	4137	6235	SO:0001589	frameshift_variant	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:65838203delG	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.246delG	11.37:g.65838203delG	ENSP00000316454:p.Ser82fs						p.S82fs	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN			1	279	+			82			Ser-rich.		Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Frame_Shift_Del	DEL	ENST00000320580.4	37	c.246delG	CCDS8129.1																																																																																				0.741	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		2	4						2	4	---	---	---	---	-	65838203	G	-	65838203	7	5	156	1	0	1	0	1	0	0	0	0	11372	1103	39	0	248	0	PACS1	11	65838203	Frame_Shift_Del	DEL	G	TCGA-DJ-A4UT-01A-11D-A257-08	693832	65838203	69168313	25	3253											
SSH3	54961	broad.mit.edu	37	chr11	67075408	67075408	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tggagagtgtcacttccaaaGaggtgggcagggggcccggg	19	8	1	2			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr11:67075408G>C	ENST00000308127.4	+	8	1061	c.883G>C	c.(883-885)Gag>Cag	p.E295Q	SSH3_ENST00000308298.7_Intron|SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000376757.5_Missense_Mutation_p.E295Q	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	295					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)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CACTTCCAAAGAGGTGGGCAG	0.617																																						ENST00000308127.4																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(883-885)Gag>Cag		slingshot protein phosphatase 3							54	55	54					11																	67075408		2200	4295	6495	SO:0001583	missense	54961				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:67075408G>C	AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30581	protein-coding gene	gene with protein product		606780	"slingshot homolog 3 (Drosophila)"			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.883G>C	11.37:g.67075408G>C	ENSP00000312081:p.Glu295Gln					SSH3_ENST00000376757.5_Missense_Mutation_p.E295Q|SSH3_ENST00000308298.7_Intron|SSH3_ENST00000532181.1_3'UTR	p.E295Q	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		8	1061	+			295					Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Missense_Mutation	SNP	ENST00000308127.4	37	c.883G>C	CCDS8157.1	.	.	.	.	.	.	.	.	.	.	G	7.452	0.642964	0.14451	.	.	ENSG00000172830	ENST00000308127;ENST00000376757;ENST00000527821	T;T;T	0.17854	3.81;3.86;2.25	4.44	4.44	0.53790	DEK, C-terminal (1);	0.180290	0.36482	N	0.002569	T	0.15522	0.0374	L	0.31065	0.9	0.40101	D	0.976378	B;B	0.33637	0.42;0.226	B;B	0.36186	0.219;0.193	T	0.09907	-1.0653	10	0.32370	T	0.25	-22.2203	16.2203	0.82255	0.0:0.0:1.0:0.0	.	149;295	Q8TE77-3;Q8TE77	.;SSH3_HUMAN	Q	295;295;47	ENSP00000312081:E295Q;ENSP00000365948:E295Q;ENSP00000433902:E47Q	ENSP00000312081:E295Q	E	+	1	0	SSH3	66831984	1.000000	0.71417	0.998000	0.56505	0.013000	0.08279	4.133000	0.57983	2.205000	0.71048	0.462000	0.41574	GAG		0.617	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1	NM_018276		4	34	0	0	0	1	0	4	34					C	67075408	G	C	67075408	3	2	156	1	0	0	0	0	1	0	0	0	15185	943	33	4	913	4	SSH3	11	67075408	Missense_Mutation	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08	1237205	67075408	67931108	26	3254											
STT3A	3703	broad.mit.edu	37	chr11	125490695	125490695	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctggataatcgaggcttgtCaaggacataaatgtcacgtc	10	9	2	0			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr11:125490695C>T	ENST00000529196.1	+	19	2314	c.2108C>T	c.(2107-2109)tCa>tTa	p.S703L	STT3A_ENST00000531491.1_Missense_Mutation_p.S611L|STT3A_ENST00000392708.4_Missense_Mutation_p.S703L|STT3A_ENST00000526364.1_Intron			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	703					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		CGAGGCTTGTCAAGGACATAA	0.338																																						ENST00000392708.4																			0				NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33						c.(2107-2109)tCa>tTa		STT3A, subunit of the oligosaccharyltransferase complex (catalytic)							80	73	75					11																	125490695		2201	4299	6500	SO:0001583	missense	3703				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity	g.chr11:125490695C>T	BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"dolichyl-diphosphooligosaccharide protein glycotransferase"	601134	"integral membrane protein 1", "STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)", "STT3A, cataylic subunit of the oligosaccharyltransferase complex"	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.2108C>T	11.37:g.125490695C>T	ENSP00000436962:p.Ser703Leu					STT3A_ENST00000531491.1_Missense_Mutation_p.S611L|STT3A_ENST00000529196.1_Missense_Mutation_p.S703L|STT3A_ENST00000526364.1_Intron	p.S703L	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)	18	2267	+	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	703					B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Missense_Mutation	SNP	ENST00000529196.1	37	c.2108C>T	CCDS8458.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.245237	0.80024	.	.	ENSG00000134910	ENST00000392708;ENST00000529196;ENST00000531491	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.62441	0.2428	N	0.16743	0.435	0.80722	D	1	P;D	0.54601	0.909;0.967	P;P	0.60789	0.879;0.879	T	0.66571	-0.5890	9	0.72032	D	0.01	-8.6785	19.8925	0.96935	0.0:1.0:0.0:0.0	.	611;703	B4DJ24;P46977	.;STT3A_HUMAN	L	703;703;611	.	ENSP00000376472:S703L	S	+	2	0	STT3A	124995905	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.453000	0.80700	2.786000	0.95864	0.563000	0.77884	TCA		0.338	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386691.1	NM_152713		4	37	0	0	0	1	0	4	37					T	125490695	C	T	125490695	3	4	156	1	0	0	0	0	1	0	0	0	15332	838	29	2	2174	2	STT3A	11	125490695	Missense_Mutation	SNP	C	TCGA-DJ-A4UT-01A-11D-A257-08	58415287	125490695	9515821	27	3255											
GRIN2B	2904	broad.mit.edu	37	chr12	13715749	13715749	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcaatactagaaagtttctCataaacatgcccattgctgg	6	10	2	1			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr12:13715749C>T	ENST00000609686.1	-	13	4632	c.4423G>A	c.(4423-4425)Gag>Aag	p.E1475K		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1475					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|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)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GAAAGTTTCTCATAAACATGC	0.498																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(4423-4425)Gag>Aag		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						137	136	137					12																	13715749		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13715749C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.4423G>A	12.37:g.13715749C>T	ENSP00000477455:p.Glu1475Lys						p.E1475K	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			13	4632	-			1475					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.4423G>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.244525	0.22796	.	.	ENSG00000150086	ENST00000279593	T	0.12039	2.72	4.83	4.83	0.62350	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.10380	0.0254	N	0.16656	0.425	0.80722	D	1	B	0.25486	0.127	B	0.34489	0.184	T	0.03695	-1.1012	10	0.02654	T	1	.	18.1355	0.89618	0.0:1.0:0.0:0.0	.	1475	Q13224	NMDE2_HUMAN	K	1475	ENSP00000279593:E1475K	ENSP00000279593:E1475K	E	-	1	0	GRIN2B	13607016	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.500000	0.60387	2.504000	0.84457	0.655000	0.94253	GAG		0.498	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			13	109	0	0	0	1	0	13	109					T	13715749	C	T	13715749	3	4	156	1	0	0	0	0	1	0	0	0	6780	835	29	2	35	2	GRIN2B	12	13715749	Missense_Mutation	SNP	C	TCGA-DJ-A4UT-01A-11D-A257-08		13715749	120136146	28	3256											
FBN1	2200	broad.mit.edu	37	chr15	48826312	48826312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acacttcattaagtttgtgtCcagcagggcatttgcactca	8	10	2	0	rs534859193		TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr15:48826312C>T	ENST00000316623.5	-	8	1282	c.827G>A	c.(826-828)gGa>gAa	p.G276E		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	276	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AAGTTTGTGTCCAGCAGGGCA	0.453													C|||	1	0.000199681	8e-04	0	5008	,	,		15103	0		0	False		,,,				2504	0					ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(826-828)gGa>gAa		fibrillin 1							270	278	275					15																	48826312		2197	4296	6493	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48826312C>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.827G>A	15.37:g.48826312C>T	ENSP00000325527:p.Gly276Glu						p.G276E	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	8	1282	-		all_lung(180;0.00279)	276			EGF-like 4; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.827G>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045005	0.93685	.	.	ENSG00000166147	ENST00000316623	D	0.95205	-3.64	5.4	5.4	0.78164	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.97864	0.9298	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98429	1.0581	10	0.87932	D	0	.	19.5281	0.95214	0.0:1.0:0.0:0.0	.	276	P35555	FBN1_HUMAN	E	276	ENSP00000325527:G276E	ENSP00000325527:G276E	G	-	2	0	FBN1	46613604	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.776000	0.85560	2.696000	0.92011	0.655000	0.94253	GGA		0.453	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			45	282	0	0	0	1	0	45	282					T	48826312	C	T	48826312	3	4	156	1	0	0	0	0	1	0	0	0	5702	855	30	2	8024	2	FBN1	15	48826312	Missense_Mutation	SNP	C	TCGA-DJ-A4UT-01A-11D-A257-08		48826312	53705080	29	3257											
AP4E1	23431	broad.mit.edu	37	chr15	51276303	51276303	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgctggcatttctcttggttCagatgtatctgggaatagtg	12	6	3	1			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr15:51276303C>T	ENST00000261842.5	+	16	2157	c.2051C>T	c.(2050-2052)tCa>tTa	p.S684L	AP4E1_ENST00000560508.1_Missense_Mutation_p.S609L	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	684					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TCTCTTGGTTCAGATGTATCT	0.383																																						ENST00000261842.5																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27						c.(2050-2052)tCa>tTa		adaptor-related protein complex 4, epsilon 1 subunit							140	139	139					15																	51276303		2196	4294	6490	SO:0001583	missense	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51276303C>T	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.2051C>T	15.37:g.51276303C>T	ENSP00000261842:p.Ser684Leu					AP4E1_ENST00000560508.1_Missense_Mutation_p.S609L	p.S684L	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	16	2157	+			684					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	c.2051C>T	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339678	0.81911	.	.	ENSG00000081014	ENST00000261842	T	0.23754	1.89	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.40247	0.1109	L	0.34521	1.04	0.58432	D	0.999999	D	0.89917	1.0	D	0.71414	0.973	T	0.27020	-1.0086	10	0.56958	D	0.05	-10.1007	16.6229	0.84934	0.0:1.0:0.0:0.0	.	684	Q9UPM8	AP4E1_HUMAN	L	684	ENSP00000261842:S684L	ENSP00000261842:S684L	S	+	2	0	AP4E1	49063595	1.000000	0.71417	0.997000	0.53966	0.939000	0.58152	5.161000	0.64935	2.295000	0.77249	0.650000	0.86243	TCA		0.383	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			6	81	0	0	0	1	0	6	81					T	51276303	C	T	51276303	3	4	156	1	0	0	0	0	1	0	0	0	752	838	29	2	2113	2	AP4E1	15	51276303	Missense_Mutation	SNP	C	TCGA-DJ-A4UT-01A-11D-A257-08	2449991	51276303	51255089	30	3258											
ABCA9	10350	broad.mit.edu	37	chr17	67013890	67013890	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tccacttctatagctatgttCtgtcgcctcagtgaatgtaa	7	10	3	1			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr17:67013890C>G	ENST00000340001.4	-	21	3019	c.2808G>C	c.(2806-2808)caG>caC	p.Q936H	ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000453985.2_Missense_Mutation_p.Q936H|ABCA9_ENST00000370732.2_Missense_Mutation_p.Q936H	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	936					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TAGCTATGTTCTGTCGCCTCA	0.368																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(2806-2808)caG>caC		ATP-binding cassette, sub-family A (ABC1), member 9							249	229	236					17																	67013890		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67013890C>G	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.2808G>C	17.37:g.67013890C>G	ENSP00000342216:p.Gln936His					ABCA9_ENST00000370732.2_Missense_Mutation_p.Q936H|ABCA9_ENST00000453985.2_Missense_Mutation_p.Q936H|ABCA9-AS1_ENST00000458677.1_RNA	p.Q936H	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			21	3019	-	Breast(10;1.47e-12)		936					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.2808G>C	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	c	11.77	1.737613	0.30774	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.88201	-2.23;-2.35	5.1	3.01	0.34805	.	0.000000	0.42682	D	0.000675	D	0.93232	0.7844	M	0.84219	2.685	0.33548	D	0.595721	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93341	0.6710	10	0.87932	D	0	.	7.0398	0.25013	0.0:0.694:0.0:0.3059	.	936;936	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	H	936;919;936;931	ENSP00000342216:Q936H;ENSP00000359767:Q936H	ENSP00000342216:Q936H	Q	-	3	2	ABCA9	64525485	0.995000	0.38212	0.955000	0.39395	0.100000	0.18952	0.601000	0.24119	0.480000	0.27534	-0.185000	0.12909	CAG		0.368	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		21	181	0	0	0	1	0	21	181					G	67013890	C	G	67013890	3	3	156	1	0	0	0	0	1	0	0	0	39	912	32	4	2142	4	ABCA9	17	67013890	Missense_Mutation	SNP	C	TCGA-DJ-A4UT-01A-11D-A257-08		67013890	14181320	31	3259											
ABCA5	23461	broad.mit.edu	37	chr17	67261047	67261047	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agttgagtataagctttgatCtaaaaaaaatgaaaaacaat	6	3	1	3			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr17:67261047C>G	ENST00000392676.3	-	24	3209		c.e24-1		ABCA5_ENST00000392677.2_Splice_Site|ABCA5_ENST00000588877.1_Splice_Site			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5						cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	AAGCTTTGATCTAAAAAAAAT	0.259																																						ENST00000392676.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.e24-1		ATP-binding cassette, sub-family A (ABC1), member 5							39	41	41					17																	67261047		2202	4293	6495	SO:0001630	splice_region_variant	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67261047C>G	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"ATP binding cassette transporters / subfamily A"	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.3145-1G>C	17.37:g.67261047C>G						ABCA5_ENST00000588877.1_Splice_Site|ABCA5_ENST00000392677.2_Splice_Site				Q8WWZ7	ABCA5_HUMAN			24	3209	-	Breast(10;3.72e-11)							Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Splice_Site	SNP	ENST00000392676.3	37		CCDS11685.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895219	0.72639	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8117	0.92059	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCA5	64772642	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	6.810000	0.75216	2.526000	0.85167	0.462000	0.41574	.		0.259	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672	Intron	4	44	0	0	0	1	0	4	44					G	67261047	C	G	67261047	5	3	156	1	0	0	0	0	0	0	1	0	35	927	32	4	1848	4	ABCA5	17	67261047	Splice_Site	SNP	C	TCGA-DJ-A4UT-01A-11D-A257-08	247157	67261047	13934163	32	3260											
ZNF560	147741	broad.mit.edu	37	chr19	9578758	9578758	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agtgccttcaaaggatttatCttgtgtacactttctctgga	8	8	3	0			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr19:9578758C>G	ENST00000301480.4	-	10	1078	c.865G>C	c.(865-867)Gat>Cat	p.D289H		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	289					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.D289Y(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AAGGATTTATCTTGTGTACAC	0.383																																						ENST00000301480.4																			1	Substitution - Missense(1)	p.D289Y(1)	large_intestine(1)	NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(865-867)Gat>Cat		zinc finger protein 560							122	112	115					19																	9578758		2203	4300	6503	SO:0001583	missense	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9578758C>G	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"Zinc fingers, C2H2-type", "-"	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.865G>C	19.37:g.9578758C>G	ENSP00000301480:p.Asp289His						p.D289H	NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN			10	1078	-			289					Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	c.865G>C	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.693278	0.30052	.	.	ENSG00000198028	ENST00000301480	T	0.15718	2.4	1.91	0.847	0.18961	.	.	.	.	.	T	0.27524	0.0676	L	0.49126	1.545	0.09310	N	1	D	0.67145	0.996	P	0.61800	0.894	T	0.08576	-1.0715	9	0.87932	D	0	.	6.4628	0.21966	0.0:0.8305:0.0:0.1695	.	289	Q96MR9	ZN560_HUMAN	H	289	ENSP00000301480:D289H	ENSP00000301480:D289H	D	-	1	0	ZNF560	9439758	0.000000	0.05858	0.003000	0.11579	0.010000	0.07245	0.657000	0.24963	0.351000	0.24027	0.491000	0.48974	GAT		0.383	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		8	80	0	0	0	1	0	8	80					G	9578758	C	G	9578758	3	3	156	1	0	0	0	0	1	0	0	0	17988	913	32	4	1511	4	ZNF560	19	9578758	Missense_Mutation	SNP	C	TCGA-DJ-A4UT-01A-11D-A257-08		9578758	49550225	33	3261											
PPP1R13L	10848	broad.mit.edu	37	chr19	45901546	45901546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagttcatgtccagaaagtCccgcgcgctctggaatgcct	11	12	2	1			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr19:45901546C>T	ENST00000418234.2	-	2	109	c.31G>A	c.(31-33)Gac>Aac	p.D11N	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.D11N	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	11					apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TCCAGAAAGTCCCGCGCGCTC	0.706																																					Pancreas(61;1447 1663 31419 50578)	ENST00000418234.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(31-33)Gac>Aac		protein phosphatase 1, regulatory subunit 13 like							32	36	34					19																	45901546		2202	4300	6502	SO:0001583	missense	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45901546C>T	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"Ankyrin repeat domain containing"	18838	protein-coding gene	gene with protein product		607463	"protein phosphatase 1, regulatory (inhibitor) subunit 13 like"			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.31G>A	19.37:g.45901546C>T	ENSP00000403902:p.Asp11Asn					PPP1R13L_ENST00000360957.5_Missense_Mutation_p.D11N	p.D11N	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	2	109	-		all_neural(266;0.224)|Ovarian(192;0.231)	11					Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP	ENST00000418234.2	37	c.31G>A	CCDS33050.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539873	0.45176	.	.	ENSG00000104881	ENST00000418234;ENST00000360957	T;T	0.58652	0.32;0.32	4.03	1.77	0.24775	.	0.533017	0.19854	N	0.104580	T	0.38134	0.1029	N	0.19112	0.55	0.21627	N	0.999617	B;B	0.24618	0.008;0.107	B;B	0.24394	0.012;0.053	T	0.30387	-0.9980	10	0.62326	D	0.03	.	7.0196	0.24907	0.0:0.7791:0.0:0.2209	.	11;11	Q6ZNZ8;Q8WUF5	.;IASPP_HUMAN	N	11	ENSP00000403902:D11N;ENSP00000354218:D11N	ENSP00000354218:D11N	D	-	1	0	PPP1R13L	50593386	0.800000	0.28916	0.611000	0.29010	0.919000	0.55068	1.245000	0.32790	0.425000	0.26087	0.563000	0.77884	GAC		0.706	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		5	32	0	0	0	1	0	5	32					T	45901546	C	T	45901546	3	4	156	1	0	0	0	0	1	0	0	0	12358	855	30	2	2503	2	PPP1R13L	19	45901546	Missense_Mutation	SNP	C	TCGA-DJ-A4UT-01A-11D-A257-08	36322788	45901546	13227437	34	3262											
BCL2L12	83596	broad.mit.edu	37	chr19	50169168	50169168	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggagcgtcacatgcaaattGagcgtgcacccagcgttccg	13	12	1	1			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr19:50169168G>A	ENST00000246785.3	+	1	346	c.88G>A	c.(88-90)Gag>Aag	p.E30K	IRF3_ENST00000593922.1_5'Flank|IRF3_ENST00000596765.1_5'Flank|IRF3_ENST00000600022.1_5'Flank|IRF3_ENST00000601291.1_5'Flank|IRF3_ENST00000598808.1_5'Flank|IRF3_ENST00000600911.1_5'Flank|IRF3_ENST00000377139.3_5'Flank|IRF3_ENST00000599223.1_5'Flank|BCL2L12_ENST00000441864.2_Missense_Mutation_p.E30K|BCL2L12_ENST00000246784.3_Missense_Mutation_p.E30K|IRF3_ENST00000377135.4_5'Flank|IRF3_ENST00000442265.2_5'Flank|IRF3_ENST00000596822.1_5'Flank|IRF3_ENST00000599144.1_5'Flank|IRF3_ENST00000309877.7_5'Flank|IRF3_ENST00000597198.1_5'Flank	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	30					inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		CATGCAAATTGAGCGTGCACC	0.602																																						ENST00000246785.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8						c.(88-90)Gag>Aag		BCL2-like 12 (proline rich)							38	39	39					19																	50169168		2203	4300	6503	SO:0001583	missense	83596				apoptosis			g.chr19:50169168G>A	AF289220	CCDS12776.1, CCDS46144.1, CCDS74424.1, CCDS74423.1	19q13.3	2014-03-07				ENSG00000126453			13787	protein-coding gene	gene with protein product		610837					Standard	NM_001040668		Approved		uc002ppa.3	Q9HB09		ENST00000246785.3:c.88G>A	19.37:g.50169168G>A	ENSP00000246785:p.Glu30Lys					BCL2L12_ENST00000441864.2_Missense_Mutation_p.E30K|BCL2L12_ENST00000246784.3_Missense_Mutation_p.E30K	p.E30K	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)	1	346	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	30					Q3SY11|Q3SY13|Q96I96|Q9HB08	Missense_Mutation	SNP	ENST00000246785.3	37	c.88G>A	CCDS12776.1	.	.	.	.	.	.	.	.	.	.	G	6.100	0.386792	0.11524	.	.	ENSG00000126453	ENST00000246785;ENST00000441864;ENST00000246784	T;T;T	0.47177	0.94;0.94;0.85	3.36	1.19	0.21007	.	.	.	.	.	T	0.22322	0.0538	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16778	-1.0391	9	0.29301	T	0.29	0.2905	3.283	0.06922	0.6207:0.2416:0.1377:0.0	.	30;30	Q3SY13;Q9HB09	.;B2L12_HUMAN	K	30	ENSP00000246785:E30K;ENSP00000393803:E30K;ENSP00000246784:E30K	ENSP00000246784:E30K	E	+	1	0	BCL2L12	54860980	0.000000	0.05858	0.002000	0.10522	0.177000	0.22998	-0.175000	0.09825	0.194000	0.20326	-0.373000	0.07131	GAG		0.602	BCL2L12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465770.1	NM_052842		14	26	0	0	0	1	0	14	26					A	50169168	G	A	50169168	3	1	156	1	0	0	0	0	1	0	0	0	1370	1291	45	2	90	2	BCL2L12	19	50169168	Missense_Mutation	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08	4267622	50169168	8959815	35	3263											
ZNF528	84436	broad.mit.edu	37	chr19	52909178	52909178	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agggacccttgaaattcatgGatgtggccatagagttctct	11	8	2	2			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr19:52909178G>T	ENST00000360465.3	+	5	460	c.34G>T	c.(34-36)Gat>Tat	p.D12Y	ZNF528_ENST00000594530.1_Missense_Mutation_p.D12Y|ZNF528_ENST00000391788.2_Missense_Mutation_p.D2Y|ZNF528_ENST00000598192.1_Missense_Mutation_p.D12Y	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	12	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GAAATTCATGGATGTGGCCAT	0.458																																						ENST00000391788.2																			0				breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(4-6)Gat>Tat		zinc finger protein 528							198	193	195					19																	52909178		2203	4300	6503	SO:0001583	missense	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52909178G>T	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"Zinc fingers, C2H2-type", "-"	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.34G>T	19.37:g.52909178G>T	ENSP00000353652:p.Asp12Tyr					ZNF528_ENST00000598192.1_Missense_Mutation_p.D12Y|ZNF528_ENST00000360465.3_Missense_Mutation_p.D12Y|ZNF528_ENST00000594530.1_Missense_Mutation_p.D12Y	p.D2Y			Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	5	527	+			12					B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	c.4G>T	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.259950	0.23051	.	.	ENSG00000167555	ENST00000391788;ENST00000436397;ENST00000391787;ENST00000360465;ENST00000494167;ENST00000493272	T;T;T	0.12039	2.72;2.72;2.72	2.08	2.08	0.27032	Krueppel-associated box (4);	.	.	.	.	T	0.58075	0.2097	H	0.99900	4.915	0.29338	N	0.866253	D	0.89917	1.0	D	0.97110	1.0	T	0.64499	-0.6393	9	0.87932	D	0	.	11.1749	0.48593	0.0:0.0:1.0:0.0	.	12	Q3MIS6	ZN528_HUMAN	Y	2;12;12;12;2;2	ENSP00000375665:D2Y;ENSP00000375664:D12Y;ENSP00000353652:D12Y	ENSP00000353652:D12Y	D	+	1	0	ZNF528	57600990	0.949000	0.32298	0.035000	0.18076	0.012000	0.07955	3.915000	0.56409	1.141000	0.42275	0.491000	0.48974	GAT		0.458	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		16	137	1	0	4.7546e-09	1	4.91309e-09	16	137					T	52909178	G	T	52909178	3	4	156	1	0	0	0	0	1	0	0	0	17966	1174	41	4	40	4	ZNF528	19	52909178	Missense_Mutation	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08	2740010	52909178	6219805	36	3264											
SYT5	6861	broad.mit.edu	37	chr19	55689729	55689729	+	Frame_Shift_Del	DEL	G	G	-													acgatggtggccagggcccaGgggggcactgcagaggggtg					rs575458911		TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr19:55689729delG	ENST00000354308.3	-	3	456	c.87delC	c.(85-87)cccfs	p.P29fs	SYT5_ENST00000590851.1_Intron|SYT5_ENST00000537500.1_Frame_Shift_Del_p.P29fs|CTD-2587H24.5_ENST00000591665.1_RNA	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	29					calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CCAGGGCCCAGGGGGGCACTG	0.602																																						ENST00000354308.3																			0				kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(85-87)ccfs		synaptotagmin V							19	20	20					19																	55689729		2203	4299	6502	SO:0001589	frameshift_variant	6861				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:55689729delG	X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"Synaptotagmins"	11513	protein-coding gene	gene with protein product	"synaptotagmin 5"	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.87delC	19.37:g.55689729delG	ENSP00000346265:p.Pro29fs					SYT5_ENST00000537500.1_Frame_Shift_Del_p.P29fs|SYT5_ENST00000590851.1_Intron	p.P29fs	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	3	456	-			29					B3KWJ8|B7Z300|Q86X72	Frame_Shift_Del	DEL	ENST00000354308.3	37	c.87delC	CCDS12919.1																																																																																				0.602	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	NM_003180		2	4						2	4	---	---	---	---	-	55689729	G	-	55689729	7	5	156	1	0	1	0	1	0	0	0	0	15474	987	35	0	1101	0	SYT5	19	55689729	Frame_Shift_Del	DEL	G	TCGA-DJ-A4UT-01A-11D-A257-08	2780551	55689729	3439254	37	3265											
C20orf152	140894	broad.mit.edu	37	chr20	34618286	34618286	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gcctgccctttagtgatgaaGatatgtgccagaagttcctc	10	10	0	4			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr20:34618286G>C	ENST00000373973.3	+	12	1620	c.1447G>C	c.(1447-1449)Gat>Cat	p.D483H	CNBD2_ENST00000538900.1_3'UTR|CNBD2_ENST00000349339.1_Missense_Mutation_p.D479H			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	483																	TAGTGATGAAGATATGTGCCA	0.567																																						ENST00000373973.3																			0											c.(1447-1449)Gat>Cat		cyclic nucleotide binding domain containing 2							88	86	87					20																	34618286		2203	4300	6503	SO:0001583	missense	140894							g.chr20:34618286G>C	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.1447G>C	20.37:g.34618286G>C	ENSP00000363084:p.Asp483His					CNBD2_ENST00000538900.1_3'UTR|CNBD2_ENST00000349339.1_Missense_Mutation_p.D479H	p.D483H							12	1620	+								Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Missense_Mutation	SNP	ENST00000373973.3	37	c.1447G>C		.	.	.	.	.	.	.	.	.	.	G	14.89	2.670970	0.47781	.	.	ENSG00000149646	ENST00000373973;ENST00000349339	T;T	0.12879	2.64;2.64	5.33	2.94	0.34122	.	0.914123	0.09151	N	0.841486	T	0.19846	0.0477	L	0.42245	1.32	0.09310	N	1	D	0.53151	0.958	P	0.53313	0.723	T	0.14227	-1.0480	10	0.54805	T	0.06	-1.3745	6.5966	0.22677	0.1054:0.0:0.7128:0.1818	.	479	Q96M20-2	.	H	483;479	ENSP00000363084:D483H;ENSP00000340954:D479H	ENSP00000340954:D479H	D	+	1	0	C20orf152	34081700	0.230000	0.23740	0.329000	0.25429	0.899000	0.52679	2.005000	0.40864	1.205000	0.43262	0.491000	0.48974	GAT		0.567	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834		10	88	0	0	0	1	0	10	88					C	34618286	G	C	34618286	3	2	156	1	0	0	0	0	1	0	0	0	2092	942	33	4	1481	4	C20orf152	20	34618286	Missense_Mutation	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08		34618286	28407234	38	3266											
SPATA2	9825	broad.mit.edu	37	chr20	48522886	48522886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccacatccgttgccacaGgctccttccgaagactcaat	6	18	1	1			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr20:48522886G>A	ENST00000422556.1	-	3	1182	c.833C>T	c.(832-834)cCt>cTt	p.P278L	SPATA2_ENST00000289431.5_Missense_Mutation_p.P278L|SPATA2_ENST00000543716.1_Missense_Mutation_p.P141L	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	278					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CGTTGCCACAGGCTCCTTCCG	0.637																																						ENST00000422556.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20						c.(832-834)cCt>cTt		spermatogenesis associated 2							56	56	56					20																	48522886		2203	4300	6503	SO:0001583	missense	9825				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus		g.chr20:48522886G>A	AB018300	CCDS13422.1	20q13.13	2014-06-13			ENSG00000158480	ENSG00000158480			14681	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 145"	607662					Standard	NM_001135773		Approved	KIAA0757, PD1, tamo, PPP1R145	uc002xuw.3	Q9UM82	OTTHUMG00000032704	ENST00000422556.1:c.833C>T	20.37:g.48522886G>A	ENSP00000416799:p.Pro278Leu					SPATA2_ENST00000289431.5_Missense_Mutation_p.P278L|SPATA2_ENST00000543716.1_Missense_Mutation_p.P141L	p.P278L	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;4.03e-06)		3	1182	-	Hepatocellular(150;0.133)		278					E1P626|O94857	Missense_Mutation	SNP	ENST00000422556.1	37	c.833C>T	CCDS13422.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103166	0.56183	.	.	ENSG00000158480	ENST00000289431;ENST00000422556;ENST00000543716	T;T;T	0.58652	0.33;0.33;0.32	5.05	5.05	0.67936	.	0.069405	0.64402	D	0.000015	T	0.64305	0.2586	L	0.59436	1.845	0.80722	D	1	P	0.46327	0.876	P	0.47864	0.559	T	0.69235	-0.5198	10	0.87932	D	0	-41.3362	18.5996	0.91244	0.0:0.0:1.0:0.0	.	278	Q9UM82	SPAT2_HUMAN	L	278;278;141	ENSP00000289431:P278L;ENSP00000416799:P278L;ENSP00000438855:P141L	ENSP00000289431:P278L	P	-	2	0	SPATA2	47956293	1.000000	0.71417	0.894000	0.35097	0.045000	0.14185	8.850000	0.92190	2.615000	0.88500	0.650000	0.86243	CCT		0.637	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079658.1	NM_006038		8	76	0	0	0	1	0	8	76					A	48522886	G	A	48522886	3	1	156	1	0	0	0	0	1	0	0	0	15004	1000	35	2	733	2	SPATA2	20	48522886	Missense_Mutation	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08	13904600	48522886	14502634	39	3267											
PHKA2	5256	broad.mit.edu	37	chrX	18970621	18970621	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gttctgcctacctgtctcatCatgcactggagaagacctcg	9	13	3	2			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chrX:18970621C>T	ENST00000379942.4	-	3	941	c.276G>A	c.(274-276)atG>atA	p.M92I		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	92					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CCTGTCTCATCATGCACTGGA	0.478																																						ENST00000379942.4																			0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(274-276)atG>atA		phosphorylase kinase, alpha 2 (liver)							173	110	131					X																	18970621		2203	4300	6503	SO:0001583	missense	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18970621C>T		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.276G>A	X.37:g.18970621C>T	ENSP00000369274:p.Met92Ile						p.M92I	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN			3	941	-	Hepatocellular(33;0.183)		92					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.276G>A	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331310	0.81690	.	.	ENSG00000044446	ENST00000379942	D	0.90069	-2.61	5.74	5.74	0.90152	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.91375	0.7279	M	0.84773	2.715	0.80722	D	1	B	0.28055	0.199	B	0.31751	0.135	D	0.90105	0.4187	10	0.62326	D	0.03	-31.8502	18.8392	0.92176	0.0:1.0:0.0:0.0	.	92	P46019	KPB2_HUMAN	I	92	ENSP00000369274:M92I	ENSP00000369274:M92I	M	-	3	0	PHKA2	18880542	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.776000	0.55356	2.395000	0.81488	0.600000	0.82982	ATG		0.478	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		6	58	0	0	0	1	0	6	58					T	18970621	C	T	18970621	3	4	156	1	0	0	0	0	1	0	0	0	11844	826	29	2	3555	2	PHKA2	23	18970621	Missense_Mutation	SNP	C	TCGA-DJ-A4UT-01A-11D-A257-08		18970621	136299939	40	3268											
RAB33A	9363	broad.mit.edu	37	chrX	129318340	129318340	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accgcaacgtacatgccgtgGtcttcgtctatgacgtcacc	9	14	3	1			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chrX:129318340G>T	ENST00000257017.4	+	2	754	c.340G>T	c.(340-342)Gtc>Ttc	p.V114F		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	114					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						ACATGCCGTGGTCTTCGTCTA	0.502																																						ENST00000257017.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						c.(340-342)Gtc>Ttc		RAB33A, member RAS oncogene family							161	122	135					X																	129318340		2203	4300	6503	SO:0001583	missense	9363				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chrX:129318340G>T	D14889	CCDS14621.1	Xq26	2008-02-05			ENSG00000134594	ENSG00000134594		"RAB, member RAS oncogene"	9773	protein-coding gene	gene with protein product		300333				7688322, 9512502	Standard	NM_004794		Approved	RabS10	uc004evl.3	Q14088	OTTHUMG00000022391	ENST00000257017.4:c.340G>T	X.37:g.129318340G>T	ENSP00000257017:p.Val114Phe						p.V114F	NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN			2	754	+			114					Q5JUZ6|Q92465	Missense_Mutation	SNP	ENST00000257017.4	37	c.340G>T	CCDS14621.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517263	0.85495	.	.	ENSG00000134594	ENST00000257017	D	0.82081	-1.57	4.71	4.71	0.59529	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85729	0.5764	N	0.21282	0.65	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88428	0.3033	10	0.87932	D	0	-19.3113	17.2062	0.86918	0.0:0.0:1.0:0.0	.	114	Q14088	RB33A_HUMAN	F	114	ENSP00000257017:V114F	ENSP00000257017:V114F	V	+	1	0	RAB33A	129146021	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.706000	0.74649	2.072000	0.62099	0.429000	0.28392	GTC		0.502	RAB33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058246.1	NM_004794		16	47	1	0	6.72482e-11	1	7.31472e-11	16	47					T	129318340	G	T	129318340	3	4	156	1	0	0	0	0	1	0	0	0	12922	1261	44	4	346	4	RAB33A	23	129318340	Missense_Mutation	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08	110347719	129318340	25952220	41	3269											
ARHGAP4	393	broad.mit.edu	37	chrX	153184648	153184648	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcatgcaggtagtagttactGacagcagcgttgacactagc	11	9	1	2			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chrX:153184648G>A	ENST00000350060.5	-	6	812	c.771C>T	c.(769-771)gtC>gtT	p.V257V	ARHGAP4_ENST00000537206.1_Silent_p.V234V|ARHGAP4_ENST00000370016.1_Silent_p.V236V|ARHGAP4_ENST00000370028.3_Silent_p.V297V|ARHGAP4_ENST00000393721.1_Intron	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	257					apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGTAGTTACTGACAGCAGCGT	0.572																																						ENST00000370028.3																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14						c.(889-891)gtC>gtT		Rho GTPase activating protein 4							220	141	168					X																	153184648		2203	4300	6503	SO:0001819	synonymous_variant	393				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chrX:153184648G>A	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"Rho GTPase activating proteins"	674	protein-coding gene	gene with protein product	"Rho-GAP hematopoietic protein C1"	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.771C>T	X.37:g.153184648G>A						ARHGAP4_ENST00000350060.5_Silent_p.V257V|ARHGAP4_ENST00000370016.1_Silent_p.V236V|ARHGAP4_ENST00000537206.1_Silent_p.V234V|ARHGAP4_ENST00000393721.1_Intron	p.V297V	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN			7	948	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		257					Q14144|Q86UY3	Silent	SNP	ENST00000350060.5	37	c.891C>T	CCDS14736.1	.	.	.	.	.	.	.	.	.	.	G	9.259	1.042786	0.19748	.	.	ENSG00000089820	ENST00000418750	.	.	.	4.44	3.58	0.41010	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.6652	0.28426	0.2086:0.0:0.7914:0.0	.	.	.	.	X	145	.	.	Q	-	1	0	ARHGAP4	152837842	1.000000	0.71417	0.960000	0.40013	0.927000	0.56198	2.497000	0.45354	0.800000	0.34041	0.479000	0.44913	CAG		0.572	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		9	76	0	0	0	1	0	9	76					A	153184648	G	A	153184648	2	1	156	1	0	0	0	0	0	0	0	1	885	1277	45	2		2	ARHGAP4	23	153184648	Silent	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08	23866308	153184648	2085912	42	3270											
PADI6	353238	broad.mit.edu	37	chr1	17720532	17720532	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgtccttgatcctcgacaCacctcaggccgccgatctcg	8	17	2	1			TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chr1:17720532C>T	ENST00000434762.2	+	0	1187							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		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;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	ATCCTCGACACACCTCAGGCC	0.542																																						ENST00000434762.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29								peptidyl arginine deiminase, type VI	L-Citrulline(DB00155)						106	112	110					1																	17720532		2037	4173	6210			353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17720532C>T	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"Peptidyl arginine deiminases"	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17720532C>T										Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	0	1187	+		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)						Q330K5|Q70SX3	RNA	SNP	ENST00000434762.2	37																																																																																						0.542	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		6	29	0	0	0	1	0	6	29					T	17720532	C	T	17720532	1	4	157	0	1	0	0	0	0	0	0	0	11381	478	17	2		2	PADI6	1	17720532	RNA	SNP	C	TCGA-DJ-A4UW-01A-11D-A257-08		17720532	231530089	1	3271											
OR10X1	128367	broad.mit.edu	37	chr1	158548923	158548923	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggtgaggtgggaggcacagGtggtgaaggccttctgcttg	19	7	1	2			TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chr1:158548923G>T	ENST00000368150.1	-	1	766	c.767C>A	c.(766-768)aCc>aAc	p.T256N		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T256S(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GGAGGCACAGGTGGTGAAGGC	0.483																																						ENST00000368150.1																			1	Substitution - Missense(1)	p.T256S(1)	lung(1)	breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(766-768)aCc>aAc		olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)							143	142	143					1																	158548923		2203	4300	6503	SO:0001583	missense	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158548923G>T	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"GPCR / Class A : Olfactory receptors"	14995	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily X, member 1"	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.767C>A	1.37:g.158548923G>T	ENSP00000357132:p.Thr256Asn						p.T256N	NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN			1	766	-	all_hematologic(112;0.0378)		256					Q6IFR8	Missense_Mutation	SNP	ENST00000368150.1	37	c.767C>A	CCDS30900.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.546659	0.65198	.	.	ENSG00000186400	ENST00000368150	T	0.40476	1.03	4.8	4.8	0.61643	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000119	T	0.69967	0.3170	H	0.95437	3.67	0.42449	D	0.992742	D	0.69078	0.997	D	0.68192	0.956	T	0.80535	-0.1339	10	0.87932	D	0	.	16.7966	0.85603	0.0:0.0:1.0:0.0	.	256	Q8NGY0	O10X1_HUMAN	N	256	ENSP00000357132:T256N	ENSP00000357132:T256N	T	-	2	0	OR10X1	156815547	1.000000	0.71417	0.950000	0.38849	0.532000	0.34746	5.797000	0.69087	2.473000	0.83533	0.563000	0.77884	ACC		0.483	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		7	132	1	0	0.0293803	1	0.0305104	7	132					T	158548923	G	T	158548923	3	4	157	1	0	0	0	0	1	0	0	0	10922	1261	44	4	208	4	OR10X1	1	158548923	Missense_Mutation	SNP	G	TCGA-DJ-A4UW-01A-11D-A257-08	140828391	158548923	90701698	2	3272											
APC	324	broad.mit.edu	37	chr5	112176431	112176431	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctgtaaccatacctgaattgGatgacaataaagcagaggaa	9	7	0	3	rs148275069		TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chr5:112176431G>T	ENST00000457016.1	+	16	5520	c.5140G>T	c.(5140-5142)Gat>Tat	p.D1714Y	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.D1714Y|APC_ENST00000508376.2_Missense_Mutation_p.D1714Y			P25054	APC_HUMAN	adenomatous polyposis coli	1714	Ser-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)	p.K1192fs*3(1)|p.?(1)		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)		ACCTGAATTGGATGACAATAA	0.403		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"		2	Unknown(1)|Deletion - Frameshift(1)	p.K1192fs*3(1)|p.?(1)	soft_tissue(1)|skin(1)	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	GRCh37	CM045451	APC	M	rs148275069	c.(5140-5142)Gat>Tat		adenomatous polyposis coli							71	72	72					5																	112176431		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.chr5:112176431G>T	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.5140G>T	5.37:g.112176431G>T	ENSP00000413133:p.Asp1714Tyr	TSP Lung(16;0.13)				CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.D1714Y|APC_ENST00000508376.2_Missense_Mutation_p.D1714Y	p.D1714Y			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)	16	5520	+		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)	1714			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.5140G>T	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697504	0.48307	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.90676	-2.71;-2.71;-2.71	6.16	6.16	0.99307	.	0.124068	0.56097	D	0.000033	D	0.89181	0.6642	L	0.29908	0.895	0.53005	D	0.999962	P;P	0.49447	0.924;0.924	P;B	0.48030	0.564;0.44	D	0.86812	0.1999	9	.	.	.	-13.2105	20.8598	0.99761	0.0:0.0:1.0:0.0	.	1716;1714	Q4LE70;P25054	.;APC_HUMAN	Y	1714	ENSP00000413133:D1714Y;ENSP00000257430:D1714Y;ENSP00000427089:D1714Y	.	D	+	1	0	APC	112204330	1.000000	0.71417	0.995000	0.50966	0.487000	0.33371	5.805000	0.69143	2.937000	0.99478	0.650000	0.86243	GAT		0.403	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		10	28	1	0	3.86212e-05	1	4.17109e-05	10	28					T	112176431	G	T	112176431	3	4	157	1	0	0	0	0	1	0	0	0	763	1174	41	4	5198	4	APC	5	112176431	Missense_Mutation	SNP	G	TCGA-DJ-A4UW-01A-11D-A257-08		112176431	68738829	3	3273											
NSD1	64324	broad.mit.edu	37	chr5	176673763	176673763	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgtaaaaaagtgaaaaAtgatgactcgtcaaaagaga	10	4	1	4			TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chr5:176673763A>G	ENST00000439151.2	+	10	4508	c.4463A>G	c.(4462-4464)aAt>aGt	p.N1488S	NSD1_ENST00000354179.4_Missense_Mutation_p.N1219S|NSD1_ENST00000347982.4_Missense_Mutation_p.N1219S|NSD1_ENST00000361032.4_Missense_Mutation_p.N1385S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1488					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		AAAGTGAAAAATGATGACTCG	0.428			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(4462-4464)aAt>aGt		nuclear receptor binding SET domain protein 1							97	94	95					5																	176673763		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176673763A>G	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.4463A>G	5.37:g.176673763A>G	ENSP00000395929:p.Asn1488Ser	HNSCC(47;0.14)				NSD1_ENST00000347982.4_Missense_Mutation_p.N1219S|NSD1_ENST00000354179.4_Missense_Mutation_p.N1219S|NSD1_ENST00000361032.4_Missense_Mutation_p.N1385S	p.N1488S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	10	4508	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1488					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.4463A>G	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	A	8.540	0.873091	0.17322	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.94897	-3.55;-3.55;-3.55;-3.55	5.65	1.55	0.23275	.	0.253291	0.34777	N	0.003682	D	0.86188	0.5873	N	0.24115	0.695	0.22500	N	0.999045	B;B;B	0.19583	0.037;0.016;0.009	B;B;B	0.21151	0.02;0.033;0.015	T	0.73212	-0.4054	10	0.30078	T	0.28	.	3.7344	0.08504	0.5475:0.0:0.2973:0.1552	.	1219;1385;1488	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	S	1219;1488;1219;1385	ENSP00000346111:N1219S;ENSP00000395929:N1488S;ENSP00000343209:N1219S;ENSP00000354310:N1385S	ENSP00000343209:N1219S	N	+	2	0	NSD1	176606369	0.998000	0.40836	0.909000	0.35828	0.299000	0.27559	0.388000	0.20735	0.069000	0.16605	-0.263000	0.10527	AAT		0.428	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		16	27	0	0	0	1	0	16	27					G	176673763	A	G	176673763	3	3	157	1	0	0	0	0	1	0	0	0	10669	101	4	3	4497	3	NSD1	5	176673763	Missense_Mutation	SNP	A	TCGA-DJ-A4UW-01A-11D-A257-08	64497332	176673763	4241497	4	3274											
TSPYL1	7259	broad.mit.edu	37	chr6	116600261	116600261	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttggaaggccctgtcggcctGagcattcacagtgtccagtt	12	11	1	1			TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chr6:116600261G>A	ENST00000368608.3	-	1	805	c.733C>T	c.(733-735)Cag>Tag	p.Q245*	DSE_ENST00000452085.3_5'Flank|DSE_ENST00000540275.1_Intron|RP1-93H18.1_ENST00000449314.1_lincRNA	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	245					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)	enzyme binding (GO:0019899)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		CTGTCGGCCTGAGCATTCACA	0.597																																						ENST00000368608.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11						c.(733-735)Cag>Tag		TSPY-like 1							80	74	76					6																	116600261		2203	4300	6503	SO:0001587	stop_gained	7259				nucleosome assembly	nucleolus		g.chr6:116600261G>A	AF042181	CCDS34518.1	6q22.1	2014-09-17	2004-04-05	2004-04-07	ENSG00000189241	ENSG00000189241			12382	protein-coding gene	gene with protein product		604714	"TSPY-like"	TSPYL		9730615	Standard	NM_003309		Approved		uc003pwp.4	Q9H0U9	OTTHUMG00000015427	ENST00000368608.3:c.733C>T	6.37:g.116600261G>A	ENSP00000357597:p.Gln245*					DSE_ENST00000540275.1_Intron	p.Q245*	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)	1	805	-		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)	245					O75885|Q5TFE6	Nonsense_Mutation	SNP	ENST00000368608.3	37	c.733C>T	CCDS34518.1	.	.	.	.	.	.	.	.	.	.	G	36	5.701915	0.96812	.	.	ENSG00000189241	ENST00000368608	.	.	.	4.34	4.34	0.51931	.	0.000000	0.33217	N	0.005144	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-21.0178	12.641	0.56709	0.0:0.0:1.0:0.0	.	.	.	.	X	245	.	ENSP00000357597:Q245X	Q	-	1	0	TSPYL1	116706954	0.999000	0.42202	0.996000	0.52242	0.990000	0.78478	3.091000	0.50199	2.700000	0.92200	0.561000	0.74099	CAG		0.597	TSPYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041929.1			20	36	0	0	0	1	0	20	36					A	116600261	G	A	116600261	4	1	157	1	0	0	0	0	0	1	0	0	16656	1299	45	2	584	2	TSPYL1	6	116600261	Nonsense_Mutation	SNP	G	TCGA-DJ-A4UW-01A-11D-A257-08		116600261	54514806	5	3275											
PLXNA4	91584	broad.mit.edu	37	chr7	131817823	131817823	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttacctcctcgctgtatttGcccacataggagaagatctc	7	13	1	2	rs190064899	byFrequency	TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chr7:131817823G>T	ENST00000359827.3	-	31	6536	c.5574C>A	c.(5572-5574)ggC>ggA	p.G1858G	PLXNA4_ENST00000321063.4_Silent_p.G1858G			Q9HCM2	PLXA4_HUMAN	plexin A4	1858					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CGCTGTATTTGCCCACATAGG	0.522													G|||	4	0.000798722	0	0.0014	5008	,	,		18056	0		0.003	False		,,,				2504	0					ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(5572-5574)ggC>ggA		plexin A4		G		2,4318		0,2,2158	119	120	120		5574	4.4	1.0	7		120	31,8549		0,31,4259	no	coding-synonymous	PLXNA4	NM_020911.1		0,33,6417	TT,TG,GG		0.3613,0.0463,0.2558		1858/1895	131817823	33,12867	2160	4290	6450	SO:0001819	synonymous_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131817823G>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.5574C>A	7.37:g.131817823G>T						PLXNA4_ENST00000321063.4_Silent_p.G1858G	p.G1858G			Q9HCM2	PLXA4_HUMAN			31	6536	-			1858					A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	c.5574C>A	CCDS43646.1																																																																																				0.522	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		4	67	1	0	0.150653	1	0.150653	4	67					T	131817823	G	T	131817823	2	4	157	1	0	0	0	0	0	0	0	1	12122	1306	46	4		4	PLXNA4	7	131817823	Silent	SNP	G	TCGA-DJ-A4UW-01A-11D-A257-08		131817823	27320840	6	3276											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		23	38	0	0	0	1	0	23	38					T	140453136	A	T	140453136	3	4	157	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A4UW-01A-11D-A257-08	8635313	140453136	18685527	7	3277											
OR4L1	122742	broad.mit.edu	37	chr14	20528213	20528213	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gagttgagtaaatggatcttAaaaatggatctctagtgacc	10	5	2	2			TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chr14:20528213A>T	ENST00000315683.1	+	1	10	c.10A>T	c.(10-12)Aaa>Taa	p.K4*		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	4						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AATGGATCTTAAAAATGGATC	0.318																																						ENST00000315683.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(10-12)Aaa>Taa		olfactory receptor, family 4, subfamily L, member 1							108	118	115					14																	20528213		2203	4299	6502	SO:0001587	stop_gained	122742				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20528213A>T		CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"GPCR / Class A : Olfactory receptors"	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.10A>T	14.37:g.20528213A>T	ENSP00000319217:p.Lys4*						p.K4*	NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	10	+	all_cancers(95;0.00108)		4					Q6IEZ5	Nonsense_Mutation	SNP	ENST00000315683.1	37	c.10A>T	CCDS32029.1	.	.	.	.	.	.	.	.	.	.	.	20.6	4.018022	0.75275	.	.	ENSG00000176246	ENST00000315683	.	.	.	3.28	2.07	0.26955	.	0.955269	0.08605	N	0.920935	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	3.4297	0.07424	0.6355:0.2395:0.125:0.0	.	.	.	.	X	4	.	ENSP00000319217:K4X	K	+	1	0	OR4L1	19598053	0.000000	0.05858	0.007000	0.13788	0.762000	0.43233	0.434000	0.21494	0.610000	0.30035	0.520000	0.50463	AAA		0.318	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1			5	94	0	0	0	1	0	5	94					T	20528213	A	T	20528213	4	4	157	1	0	0	0	0	0	1	0	0	11074	363	13	5	12	5	OR4L1	14	20528213	Nonsense_Mutation	SNP	A	TCGA-DJ-A4UW-01A-11D-A257-08		20528213	86821327	8	3278											
MAPKBP1	23005	broad.mit.edu	37	chr15	42114280	42114280	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggattacagcagcagctgCctttccagcccggagcaccc	11	15	0	0			TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chr15:42114280C>T	ENST00000456763.2	+	26	3217	c.3021C>T	c.(3019-3021)tgC>tgT	p.C1007C	MAPKBP1_ENST00000221214.6_Silent_p.C884C|MAPKBP1_ENST00000260357.7_Silent_p.C840C|MAPKBP1_ENST00000514566.1_Silent_p.C1001C|MAPKBP1_ENST00000457542.2_Silent_p.C1001C	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1007										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GCAGCAGCTGCCTTTCCAGCC	0.647																																						ENST00000457542.2																			0				breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(3001-3003)tgC>tgT		mitogen-activated protein kinase binding protein 1							18	17	17					15																	42114280		2202	4300	6502	SO:0001819	synonymous_variant	23005							g.chr15:42114280C>T	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"WD repeat domain containing"	29536	protein-coding gene	gene with protein product			"mitogen activated protein kinase binding protein 1"			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.3021C>T	15.37:g.42114280C>T						MAPKBP1_ENST00000221214.6_Silent_p.C884C|MAPKBP1_ENST00000514566.1_Silent_p.C1001C|MAPKBP1_ENST00000456763.2_Silent_p.C1007C|MAPKBP1_ENST00000260357.7_Silent_p.C840C	p.C1001C	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	25	3289	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	1007					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Silent	SNP	ENST00000456763.2	37	c.3003C>T	CCDS45239.1																																																																																				0.647	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		6	10	0	0	0	1	0	6	10					T	42114280	C	T	42114280	2	4	157	1	0	0	0	0	0	0	0	1	9292	747	26	2		2	MAPKBP1	15	42114280	Silent	SNP	C	TCGA-DJ-A4UW-01A-11D-A257-08		42114280	60417112	9	3279											
RCVRN	5957	broad.mit.edu	37	chr17	9801501	9801501	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccagtgtcccctcaatgaAttctttctctgtaagtttat	7	10	3	1			TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chr17:9801501A>G	ENST00000226193.5	-	3	954	c.514T>C	c.(514-516)Ttc>Ctc	p.F172L	RCVRN_ENST00000570909.3_5'UTR	NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	172	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of calcium ion transport (GO:0051924)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	dendrite (GO:0030425)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						CCCTCAATGAATTCTTTCTCT	0.413																																						ENST00000226193.5																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						c.(514-516)Ttc>Ctc		recoverin							250	234	239					17																	9801501		2203	4300	6503	SO:0001583	missense	5957				visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity	g.chr17:9801501A>G	BC001720	CCDS11151.1	17p13.1	2013-01-10		2006-09-26	ENSG00000109047	ENSG00000109047		"EF-hand domain containing"	9937	protein-coding gene	gene with protein product		179618		RCV1		1387789, 12507501, 1467959, 12789533	Standard	NM_002903		Approved		uc002gme.1	P35243	OTTHUMG00000130268	ENST00000226193.5:c.514T>C	17.37:g.9801501A>G	ENSP00000226193:p.Phe172Leu					RCVRN_ENST00000570909.2_Missense_Mutation_p.F41L	p.F172L	NM_002903.2	NP_002894.1	P35243	RECO_HUMAN			3	954	-			172			EF-hand 4.		Q53XL0	Missense_Mutation	SNP	ENST00000226193.5	37	c.514T>C	CCDS11151.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.806263	0.50421	.	.	ENSG00000109047	ENST00000226193	T	0.80393	-1.37	5.21	5.21	0.72293	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.90926	0.7148	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92613	0.6101	10	0.87932	D	0	.	13.3028	0.60334	1.0:0.0:0.0:0.0	.	172	P35243	RECO_HUMAN	L	172	ENSP00000226193:F172L	ENSP00000226193:F172L	F	-	1	0	RCVRN	9742226	1.000000	0.71417	0.977000	0.42913	0.771000	0.43674	8.318000	0.89990	2.086000	0.62901	0.533000	0.62120	TTC		0.413	RCVRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252600.2	NM_002903		46	99	0	0	0	1	0	46	99					G	9801501	A	G	9801501	3	3	157	1	0	0	0	0	1	0	0	0	13186	101	4	3	92	3	RCVRN	17	9801501	Missense_Mutation	SNP	A	TCGA-DJ-A4UW-01A-11D-A257-08		9801501	71393709	10	3280											
CSF2RA	1438	broad.mit.edu	37	chrX	1428413	1428413	+	3'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatggacatctccgcctcCgcgacacgggggaactgttt	13	13	1	0			TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chrX:1428413C>T	ENST00000381524.3	+	0	1430				CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000417535.2_3'UTR|CSF2RA_ENST00000432318.2_3'UTR|CSF2RA_ENST00000381529.3_3'UTR|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000501036.2_3'UTR|CSF2RA_ENST00000355432.3_Silent_p.S355S|CSF2RA_ENST00000361536.3_3'UTR			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)						response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TCTCCGCCTCCGCGACACGGG	0.498													c|||	37	0.00738818	0	0	5008	,	,		20867	0		0	False		,,,				2504	0.0378				Esophageal Squamous(131;723 1707 25334 40494 41806)	ENST00000355432.3																			0				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45						c.(1063-1065)tcC>tcT		colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						256	237	244					X																	1428413		2203	4296	6499	SO:0001624	3_prime_UTR_variant	0					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1428413C>T	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"CD molecules", "Pseudoautosomal regions / PAR1"	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.*41C>T	X.37:g.1428413C>T						CSF2RA_ENST00000501036.2_3'UTR|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381524.3_3'UTR|CSF2RA_ENST00000381529.3_3'UTR|CSF2RA_ENST00000432318.2_3'UTR|CSF2RA_ENST00000361536.3_3'UTR|CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000417535.2_3'UTR	p.S355S	NM_172246.2	NP_758449.1	P15509	CSF2R_HUMAN			11	1214	+		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)	0					A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Silent	SNP	ENST00000381524.3	37	c.1065C>T	CCDS35191.1																																																																																				0.498	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			9	152	0	0	0	1	0	9	152					T	1428413	C	T	1428413	1	4	157	0	1	0	0	0	0	0	0	0	3934	639	23	1		1	CSF2RA	23	1428413	3'UTR	SNP	C	TCGA-DJ-A4UW-01A-11D-A257-08		1428413	153842147	11	3281											
GLA	2717	broad.mit.edu	37	chrX	100658838	100658838	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcccatgaggaaagcgctgAgggtctgcctgaagtctgcc	13	11	2	3			TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chrX:100658838A>C	ENST00000218516.3	-	2	351	c.330T>G	c.(328-330)ccT>ccG	p.P110P	GLA_ENST00000479445.1_5'UTR|RPL36A-HNRNPH2_ENST00000409170.3_Intron	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	110					glycoside catabolic process (GO:0016139)|glycosphingolipid catabolic process (GO:0046479)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric-oxide synthase activity (GO:0051001)|oligosaccharide metabolic process (GO:0009311)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|catalytic activity (GO:0003824)|galactoside binding (GO:0016936)|hydrolase activity (GO:0016787)|protein homodimerization activity (GO:0042803)|raffinose alpha-galactosidase activity (GO:0052692)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						GAAAGCGCTGAGGGTCTGCCT	0.463																																					Colon(193;776 2816 31189 44474)	ENST00000218516.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						c.(328-330)ccT>ccG		galactosidase, alpha	Agalsidase beta(DB00103)						159	139	146					X																	100658838		2203	4300	6503	SO:0001819	synonymous_variant	2717				glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding	g.chrX:100658838A>C	X16889	CCDS14484.1	Xq21.3-q22	2014-09-17			ENSG00000102393	ENSG00000102393	3.2.1.22		4296	protein-coding gene	gene with protein product		300644					Standard	NM_000169		Approved	GALA	uc004ehl.1	P06280	OTTHUMG00000022026	ENST00000218516.3:c.330T>G	X.37:g.100658838A>C						RPL36A-HNRNPH2_ENST00000409170.3_Intron|GLA_ENST00000493905.1_5'UTR	p.P110P	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN			2	351	-			110					Q6LER7	Silent	SNP	ENST00000218516.3	37	c.330T>G	CCDS14484.1																																																																																				0.463	GLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057540.1			8	94	0	0	0	1	0	8	94					C	100658838	A	C	100658838	2	2	157	1	0	0	0	0	0	0	0	1	6426	291	11	5		5	GLA	23	100658838	Silent	SNP	A	TCGA-DJ-A4UW-01A-11D-A257-08	99230425	100658838	54611722	12	3282											
GCKR	2646	broad.mit.edu	37	chr2	27728639	27728639	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtggaagtgccaccaagattCtgctggaaaccctgttatta	10	9	1	1			TCGA-DJ-A4V0-01A-11D-A257-08	TCGA-DJ-A4V0-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0623e99e-5e86-4a2f-b418-13b9289ad3ec	7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476	g.chr2:27728639C>T	ENST00000264717.2	+	10	868	c.805C>T	c.(805-807)Ctg>Ttg	p.L269L	GCKR_ENST00000424318.2_Silent_p.L79L	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	269	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					CACCAAGATTCTGCTGGAAAC	0.532																																						ENST00000264717.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29						c.(805-807)Ctg>Ttg		glucokinase (hexokinase 4) regulator							100	90	94					2																	27728639		2203	4300	6503	SO:0001819	synonymous_variant	2646				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding	g.chr2:27728639C>T	Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"glucokinase (hexokinase 4) regulatory protein"			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.805C>T	2.37:g.27728639C>T						GCKR_ENST00000424318.2_Silent_p.L79L	p.L269L	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN			10	868	+	Acute lymphoblastic leukemia(172;0.155)		269			SIS 1.		A1L4C2|B4DPQ2|Q53RY6|Q99522	Silent	SNP	ENST00000264717.2	37	c.805C>T	CCDS1757.1																																																																																				0.532	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1	NM_001486		4	75	0	0	0	1	0	4	75					T	27728639	C	T	27728639	2	4	158	1	0	0	0	0	0	0	0	1	6294	912	32	2		2	GCKR	2	27728639	Silent	SNP	C	TCGA-DJ-A4V0-01A-11D-A257-08		27728639	215470734	1	3283											
SEMA5B	54437	broad.mit.edu	37	chr3	122667454	122667454	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggagaggtgggacaccagcAgtgtgaggctgggcagcaac	18	8	0	2	rs145228820	byFrequency	TCGA-DJ-A4V0-01A-11D-A257-08	TCGA-DJ-A4V0-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0623e99e-5e86-4a2f-b418-13b9289ad3ec	7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476	g.chr3:122667454A>T	ENST00000357599.3	-	3	613	c.227T>A	c.(226-228)cTg>cAg	p.L76Q	SEMA5B_ENST00000465147.1_5'UTR|SEMA5B_ENST00000451055.2_Missense_Mutation_p.L130Q|SEMA5B_ENST00000195173.4_Missense_Mutation_p.L76Q	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	76					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGACACCAGCAGTGTGAGGCT	0.637													A|||	11	0.00219649	8e-04	0.0014	5008	,	,		17909	0.001		0.008	False		,,,				2504	0					ENST00000195173.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55						c.(226-228)cTg>cAg		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B		A	GLN/LEU	7,4399	12.9+/-30.5	0,7,2196	51	48	49		227	4.8	1.0	3	dbSNP_134	49	104,8496	57.5+/-118.9	0,104,4196	yes	missense	SEMA5B	NM_001031702.2	113	0,111,6392	TT,TA,AA		1.2093,0.1589,0.8535	possibly-damaging	76/1152	122667454	111,12895	2203	4300	6503	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122667454A>T	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"Semaphorins"	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.227T>A	3.37:g.122667454A>T	ENSP00000350215:p.Leu76Gln					SEMA5B_ENST00000465147.1_5'UTR|SEMA5B_ENST00000357599.3_Missense_Mutation_p.L76Q|SEMA5B_ENST00000451055.2_Missense_Mutation_p.L130Q	p.L76Q			Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	3	530	-			76					A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.227T>A	CCDS35491.1	9	0.004120879120879121	1	0.0020325203252032522	0	0.0	0	0.0	8	0.010554089709762533	A	19.33	3.806266	0.70682	0.001589	0.012093	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583;ENST00000421053;ENST00000449546	T;T;T;T	0.37915	1.19;1.17;1.23;1.29	4.81	4.81	0.61882	.	0.000000	0.40908	D	0.000981	T	0.30355	0.0762	N	0.08118	0	0.38008	D	0.934431	D;D;D	0.71674	0.997;0.995;0.998	D;D;D	0.81914	0.991;0.986;0.995	T	0.50311	-0.8843	10	0.66056	D	0.02	.	12.617	0.56582	1.0:0.0:0.0:0.0	.	18;76;76	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	Q	76;76;18;130;76;76;76	ENSP00000350215:L76Q;ENSP00000195173:L76Q;ENSP00000389588:L130Q;ENSP00000377208:L76Q	ENSP00000195173:L76Q	L	-	2	0	SEMA5B	124150144	1.000000	0.71417	0.990000	0.47175	0.904000	0.53231	5.162000	0.64942	2.143000	0.66587	0.528000	0.53228	CTG		0.637	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		3	39	0	0	0	1	0	3	39					T	122667454	A	T	122667454	3	4	158	1	0	0	0	0	1	0	0	0	14038	188	7	5	3312	5	SEMA5B	3	122667454	Missense_Mutation	SNP	A	TCGA-DJ-A4V0-01A-11D-A257-08		122667454	75354976	2	3284											
EYA4	2070	broad.mit.edu	37	chr6	133802618	133802618	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taggagagttcgataccatgCagagtccctccacacccatc	8	14	0	2			TCGA-DJ-A4V0-01A-11D-A257-08	TCGA-DJ-A4V0-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0623e99e-5e86-4a2f-b418-13b9289ad3ec	7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476	g.chr6:133802618C>A	ENST00000367895.5	+	12	1452	c.988C>A	c.(988-990)Cag>Aag	p.Q330K	EYA4_ENST00000431403.2_Missense_Mutation_p.Q330K|EYA4_ENST00000430974.2_Missense_Mutation_p.Q282K|EYA4_ENST00000525849.1_Missense_Mutation_p.Q307K|EYA4_ENST00000355167.3_Missense_Mutation_p.Q330K|EYA4_ENST00000355286.6_Missense_Mutation_p.Q307K|EYA4_ENST00000452339.2_Missense_Mutation_p.Q276K|EYA4_ENST00000531901.1_Missense_Mutation_p.Q336K	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	330					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CGATACCATGCAGAGTCCCTC	0.413																																					Melanoma(57;398 1237 3528 4702 7415)	ENST00000367895.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48						c.(988-990)Cag>Aag		eyes absent homolog 4 (Drosophila)							122	127	125					6																	133802618		2203	4300	6503	SO:0001583	missense	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133802618C>A	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"Protein tyrosine phosphatases / Asp-based PTPs"	3522	protein-coding gene	gene with protein product		603550	"eyes absent (Drosophila) homolog 4", "eyes absent homolog 4 (Drosophila)"	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.988C>A	6.37:g.133802618C>A	ENSP00000356870:p.Gln330Lys					EYA4_ENST00000431403.2_Missense_Mutation_p.Q330K|EYA4_ENST00000430974.2_Missense_Mutation_p.Q282K|EYA4_ENST00000452339.2_Missense_Mutation_p.Q276K|EYA4_ENST00000531901.1_Missense_Mutation_p.Q336K|EYA4_ENST00000355286.6_Missense_Mutation_p.Q307K|EYA4_ENST00000525849.1_Missense_Mutation_p.Q307K|EYA4_ENST00000355167.3_Missense_Mutation_p.Q330K	p.Q330K	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	12	1452	+	Colorectal(23;0.221)		330					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	c.988C>A	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.017992	0.35606	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	D;D;D;D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.66973	0.2844	L	0.44542	1.39	0.80722	D	1	B;B;B;P;B;B	0.46220	0.209;0.036;0.045;0.874;0.022;0.209	B;B;B;P;B;B	0.44946	0.185;0.016;0.019;0.465;0.022;0.185	T	0.70278	-0.4916	10	0.05620	T	0.96	-7.9098	19.7597	0.96309	0.0:1.0:0.0:0.0	.	336;282;276;307;330;330	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	K	276;282;330;330;307;336;307;330	ENSP00000395916:Q276K;ENSP00000388670:Q282K;ENSP00000356870:Q330K;ENSP00000347294:Q330K;ENSP00000347434:Q307K;ENSP00000432770:Q336K;ENSP00000433219:Q307K;ENSP00000404558:Q330K	ENSP00000347294:Q330K	Q	+	1	0	EYA4	133844311	1.000000	0.71417	0.998000	0.56505	0.931000	0.56810	7.590000	0.82653	2.665000	0.90641	0.655000	0.94253	CAG		0.413	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		13	100	1	0	2.61681e-11	1	2.71027e-11	13	100					A	133802618	C	A	133802618	3	1	158	1	0	0	0	0	1	0	0	0	5331	711	25	4	1030	4	EYA4	6	133802618	Missense_Mutation	SNP	C	TCGA-DJ-A4V0-01A-11D-A257-08		133802618	37312449	3	3285											
TCERG1L	256536	broad.mit.edu	37	chr10	132944819	132944819	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgggtcctcaatgatcctgTtgaggtctccgcggtccttc	12	13	2	2			TCGA-DJ-A4V0-01A-11D-A257-08	TCGA-DJ-A4V0-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0623e99e-5e86-4a2f-b418-13b9289ad3ec	7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476	g.chr10:132944819T>C	ENST00000368642.4	-	7	1224	c.1139A>G	c.(1138-1140)aAc>aGc	p.N380S		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	380										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		AATGATCCTGTTGAGGTCTCC	0.542																																						ENST00000368642.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1138-1140)aAc>aGc		transcription elongation regulator 1-like							119	109	112					10																	132944819		2203	4300	6503	SO:0001583	missense	256536							g.chr10:132944819T>C	AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.1139A>G	10.37:g.132944819T>C	ENSP00000357631:p.Asn380Ser						p.N380S	NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)	7	1224	-		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)	380					Q5VWI2|Q86XM8	Missense_Mutation	SNP	ENST00000368642.4	37	c.1139A>G	CCDS7662.2	.	.	.	.	.	.	.	.	.	.	T	14.08	2.429928	0.43122	.	.	ENSG00000176769	ENST00000368642	T	0.22134	1.97	4.83	1.0	0.19881	WW/Rsp5/WWP (1);	0.142736	0.43747	D	0.000528	T	0.14399	0.0348	L	0.46157	1.445	0.39909	D	0.974008	B	0.34015	0.435	B	0.27262	0.078	T	0.06427	-1.0827	10	0.72032	D	0.01	-4.4468	5.7274	0.18020	0.0:0.1491:0.2633:0.5877	.	380	Q5VWI1	TCRGL_HUMAN	S	380	ENSP00000357631:N380S	ENSP00000357631:N380S	N	-	2	0	TCERG1L	132834809	0.999000	0.42202	0.996000	0.52242	0.904000	0.53231	2.487000	0.45268	-0.014000	0.14175	0.383000	0.25322	AAC		0.542	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	NM_174937		4	46	0	0	0	1	0	4	46					C	132944819	T	C	132944819	3	2	158	1	0	0	0	0	1	0	0	0	15683	1725	60	3	645	3	TCERG1L	10	132944819	Missense_Mutation	SNP	T	TCGA-DJ-A4V0-01A-11D-A257-08		132944819	2589928	4	3286											
MBIP	51562	broad.mit.edu	37	chr14	36783808	36783808	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aataaatgcagatattcgtcTgtcaatctacaaacaacaag	5	8	3	1			TCGA-DJ-A4V0-01A-11D-A257-08	TCGA-DJ-A4V0-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0623e99e-5e86-4a2f-b418-13b9289ad3ec	7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476	g.chr14:36783808T>C	ENST00000416007.4	-	4	568	c.481A>G	c.(481-483)Aga>Gga	p.R161G	MBIP_ENST00000359527.7_Missense_Mutation_p.R161G|MBIP_ENST00000603913.1_5'Flank|MBIP_ENST00000318473.7_Missense_Mutation_p.R161G	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	161					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|inactivation of MAPK activity involved in osmosensory signaling pathway (GO:0000173)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein kinase inhibitor activity (GO:0004860)			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		GATATTCGTCTGTCAATCTAC	0.338																																						ENST00000416007.4																			0				breast(2)|large_intestine(1)|lung(5)	8						c.(481-483)Aga>Gga		MAP3K12 binding inhibitory protein 1							63	62	63					14																	36783808		2202	4296	6498	SO:0001583	missense	51562				histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity	g.chr14:36783808T>C	BC016821	CCDS9658.1, CCDS45096.1	14q13.2	2005-01-10			ENSG00000151332	ENSG00000151332			20427	protein-coding gene	gene with protein product		609431				10801814	Standard	NM_016586		Approved		uc001wtm.2	Q9NS73	OTTHUMG00000140222	ENST00000416007.4:c.481A>G	14.37:g.36783808T>C	ENSP00000399718:p.Arg161Gly					MBIP_ENST00000318473.7_Missense_Mutation_p.R161G|MBIP_ENST00000359527.7_Missense_Mutation_p.R161G	p.R161G	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)	4	568	-	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		161					Q86TZ2|Q96AS5|Q9BS93|Q9NZE1	Missense_Mutation	SNP	ENST00000416007.4	37	c.481A>G	CCDS9658.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.59|15.59	2.877897|2.877897	0.51801|0.51801	.|.	.|.	ENSG00000151332|ENSG00000151332	ENST00000553977|ENST00000416007;ENST00000318473;ENST00000359527;ENST00000396329;ENST00000553298;ENST00000553549	.|T;T;T	.|0.50277	.|0.75;0.75;0.75	5.84|5.84	4.67|4.67	0.58626|0.58626	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.66015|0.66015	0.2747|0.2747	M|M	0.72353|0.72353	2.195|2.195	0.54753|0.54753	D|D	0.999982|0.999982	.|D;D;D;D	.|0.89917	.|0.996;0.998;1.0;0.998	.|P;D;D;D	.|0.71414	.|0.895;0.957;0.973;0.969	T|T	0.68880|0.68880	-0.5292|-0.5292	5|10	.|0.72032	.|D	.|0.01	-13.795|-13.795	13.0942|13.0942	0.59182|0.59182	0.0:0.0:0.1339:0.8661|0.0:0.0:0.1339:0.8661	.|.	.|135;161;161;161	.|B4DE55;Q9NS73-5;Q9NS73-3;Q9NS73	.|.;.;.;MBIP1_HUMAN	R|G	157|161;161;161;168;121;140	.|ENSP00000399718:R161G;ENSP00000324444:R161G;ENSP00000352517:R161G	.|ENSP00000324444:R161G	Q|R	-|-	2|1	0|2	MBIP|MBIP	35853559|35853559	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.646000|4.646000	0.61411|0.61411	1.010000|1.010000	0.39314|0.39314	0.533000|0.533000	0.62120|0.62120	CAG|AGA		0.338	MBIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276685.2	NM_016586		5	31	0	0	0	1	0	5	31					C	36783808	T	C	36783808	3	2	158	1	0	0	0	0	1	0	0	0	9349	1588	55	3	577	3	MBIP	14	36783808	Missense_Mutation	SNP	T	TCGA-DJ-A4V0-01A-11D-A257-08		36783808	70565732	5	3287											
KIAA0556	23247	broad.mit.edu	37	chr16	27761090	27761090	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aaaagagcagccggcacagcGacttgcccccctccaagaag	10	15	0	2	rs139603388	byFrequency	TCGA-DJ-A4V0-01A-11D-A257-08	TCGA-DJ-A4V0-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0623e99e-5e86-4a2f-b418-13b9289ad3ec	7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476	g.chr16:27761090G>T	ENST00000261588.4	+	16	2828	c.2809G>T	c.(2809-2811)Gac>Tac	p.D937Y		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	937						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CCGGCACAGCGACTTGCCCCC	0.637													G|||	6	0.00119808	0	0.0014	5008	,	,		17502	0		0.001	False		,,,				2504	0.0041					ENST00000261588.4																			0				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(2809-2811)Gac>Tac		KIAA0556		G	TYR/ASP	1,4393	2.1+/-5.4	0,1,2196	33	34	34		2809	2.6	0.0	16	dbSNP_134	34	24,8576	16.6+/-54.9	0,24,4276	yes	missense	KIAA0556	NM_015202.2	160	0,25,6472	TT,TG,GG		0.2791,0.0228,0.1924	benign	937/1619	27761090	25,12969	2197	4300	6497	SO:0001583	missense	23247							g.chr16:27761090G>T	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.2809G>T	16.37:g.27761090G>T	ENSP00000261588:p.Asp937Tyr						p.D937Y	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			16	2828	+			937					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.2809G>T	CCDS32415.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	14.20	2.463792	0.43736	2.28E-4	0.002791	ENSG00000047578	ENST00000261588	T	0.10288	2.89	4.59	2.62	0.31277	.	0.853808	0.10444	N	0.673897	T	0.11153	0.0272	L	0.44542	1.39	0.09310	N	1	B	0.16396	0.017	B	0.17722	0.019	T	0.27434	-1.0074	10	0.62326	D	0.03	-17.8901	8.898	0.35476	0.1767:0.0:0.8233:0.0	.	937	O60303	K0556_HUMAN	Y	937	ENSP00000261588:D937Y	ENSP00000261588:D937Y	D	+	1	0	KIAA0556	27668591	0.013000	0.17824	0.000000	0.03702	0.001000	0.01503	1.182000	0.32029	0.482000	0.27582	-0.137000	0.14449	GAC		0.637	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		3	40	1	0	0.115264	1	0.115264	3	40					T	27761090	G	T	27761090	3	4	158	1	0	0	0	0	1	0	0	0	8183	1058	37	4	2871	4	KIAA0556	16	27761090	Missense_Mutation	SNP	G	TCGA-DJ-A4V0-01A-11D-A257-08		27761090	62593663	6	3288											
MAN2B1	4125	broad.mit.edu	37	chr19	12777488	12777488	+	Frame_Shift_Del	DEL	C	C	-													caggcagccgcgagcgcagaCccccgaagcccgcgcgtagg					rs558131886	byFrequency	TCGA-DJ-A4V0-01A-11D-A257-08	TCGA-DJ-A4V0-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0623e99e-5e86-4a2f-b418-13b9289ad3ec	7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476	g.chr19:12777488delC	ENST00000456935.2	-	1	68	c.28delG	c.(28-30)gtcfs	p.V10fs	WDR83_ENST00000418543.3_5'Flank|MAN2B1_ENST00000221363.4_Frame_Shift_Del_p.V10fs|CTD-2192J16.24_ENST00000597961.1_Intron	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	10					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CGAGCGCAGACCCCCGAAGCC	0.721																																						ENST00000456935.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(28-30)tcfs		mannosidase, alpha, class 2B, member 1							3	5	4					19																	12777488		1842	3799	5641	SO:0001589	frameshift_variant	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12777488delC		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.28delG	19.37:g.12777488delC	ENSP00000395473:p.Val10fs					CTD-2192J16.24_ENST00000597961.1_Intron|MAN2B1_ENST00000221363.4_Frame_Shift_Del_p.V10fs	p.V10fs	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN			1	68	-			10					G5E928|O15330|Q16680|Q93094|Q9BW13	Frame_Shift_Del	DEL	ENST00000456935.2	37	c.28delG	CCDS32919.1																																																																																				0.721	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			2	4						2	4	---	---	---	---	-	12777488	C	-	12777488	7	5	158	1	0	1	0	1	0	0	0	0	9216	507	18	0	3103	0	MAN2B1	19	12777488	Frame_Shift_Del	DEL	C	TCGA-DJ-A4V0-01A-11D-A257-08		12777488	46351495	7	3289											
ZNF324B	388569	broad.mit.edu	37	chr19	58967094	58967094	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtccttcgaatgcagggcGtgcagcaaagtgttcgtgaa	13	8	0	1			TCGA-DJ-A4V0-01A-11D-A257-08	TCGA-DJ-A4V0-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0623e99e-5e86-4a2f-b418-13b9289ad3ec	7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476	g.chr19:58967094G>A	ENST00000336614.4	+	4	890	c.783G>A	c.(781-783)gcG>gcA	p.A261A	ZNF324B_ENST00000391696.1_Silent_p.A251A|ZNF324B_ENST00000545523.1_Silent_p.A261A	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	261					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)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		AATGCAGGGCGTGCAGCAAAG	0.647																																						ENST00000391696.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(751-753)gcG>gcA		zinc finger protein 324B							24	21	22					19																	58967094		2201	4275	6476	SO:0001819	synonymous_variant	388569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58967094G>A	AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"Zinc fingers, C2H2-type", "-"	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.783G>A	19.37:g.58967094G>A						ZNF324B_ENST00000545523.1_Silent_p.A261A|ZNF324B_ENST00000336614.4_Silent_p.A261A	p.A251A			Q6AW86	Z324B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	3	1685	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	261					B2RTZ6|Q6ZMX8|Q6ZS42	Silent	SNP	ENST00000336614.4	37	c.753G>A	CCDS33138.1																																																																																				0.647	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467038.1	NM_207395		3	24	0	0	0	1	0	3	24					A	58967094	G	A	58967094	2	1	158	1	0	0	0	0	0	0	0	1	17842	1132	40	1		1	ZNF324B	19	58967094	Silent	SNP	G	TCGA-DJ-A4V0-01A-11D-A257-08	46189606	58967094	161889	8	3290											
HIC2	23119	broad.mit.edu	37	chr22	21799594	21799594	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttggcagccctctgccgccGcaaactcaagcgagccggca	12	16	2	0			TCGA-DJ-A4V0-01A-11D-A257-08	TCGA-DJ-A4V0-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0623e99e-5e86-4a2f-b418-13b9289ad3ec	7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476	g.chr22:21799594G>A	ENST00000443632.2	+	2	782	c.410G>A	c.(409-411)cGc>cAc	p.R137H	HIC2_ENST00000407464.2_Missense_Mutation_p.R137H|HIC2_ENST00000407598.2_Missense_Mutation_p.R137H			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	137					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				CTCTGCCGCCGCAAACTCAAG	0.706																																					NSCLC(23;437 858 2282 27947 40366)	ENST00000443632.2																			0				NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(409-411)cGc>cAc		hypermethylated in cancer 2							13	17	16					22																	21799594		2134	4150	6284	SO:0001583	missense	23119				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding	g.chr22:21799594G>A	AB028943	CCDS13789.1	22q11.21	2013-01-09			ENSG00000169635	ENSG00000169635		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	18595	protein-coding gene	gene with protein product		607712				11554746	Standard	NM_015094		Approved	KIAA1020, HRG22, ZBTB30, ZNF907	uc002zur.4	Q96JB3	OTTHUMG00000150781	ENST00000443632.2:c.410G>A	22.37:g.21799594G>A	ENSP00000387757:p.Arg137His					HIC2_ENST00000407464.2_Missense_Mutation_p.R137H|HIC2_ENST00000407598.2_Missense_Mutation_p.R137H	p.R137H			Q96JB3	HIC2_HUMAN			2	782	+	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)	137					Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Missense_Mutation	SNP	ENST00000443632.2	37	c.410G>A	CCDS13789.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.906232	0.72868	.	.	ENSG00000169635	ENST00000407464;ENST00000407598;ENST00000443632	T;T;T	0.68025	-0.3;-0.3;-0.3	5.01	5.01	0.66863	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.054750	0.64402	D	0.000002	T	0.66636	0.2809	L	0.31752	0.955	0.34042	D	0.655153	D	0.89917	1.0	D	0.69307	0.963	T	0.66976	-0.5787	10	0.16420	T	0.52	.	9.2696	0.37664	0.0956:0.0:0.9044:0.0	.	137	Q96JB3	HIC2_HUMAN	H	137	ENSP00000385319:R137H;ENSP00000384889:R137H;ENSP00000387757:R137H	ENSP00000385319:R137H	R	+	2	0	HIC2	20129594	1.000000	0.71417	0.999000	0.59377	0.927000	0.56198	6.922000	0.75811	2.595000	0.87683	0.561000	0.74099	CGC		0.706	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320061.2			4	41	0	0	0	1	0	4	41					A	21799594	G	A	21799594	3	1	158	1	0	0	0	0	1	0	0	0	7102	1087	38	1	416	1	HIC2	22	21799594	Missense_Mutation	SNP	G	TCGA-DJ-A4V0-01A-11D-A257-08		21799594	29504972	9	3291											
CCBP2	1238	broad.mit.edu	37	chr3	42906480	42906480	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggacccgggccaagagcctGctccttgctaccatagtatg	11	13	0	1			TCGA-DJ-A4V2-01A-11D-A257-08	TCGA-DJ-A4V2-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ac429-f523-4c6c-b4d6-0de91d50a945	47627937-0a98-41cf-ac54-096a2900b4ae	g.chr3:42906480G>T	ENST00000422265.1	+	3	661	c.486G>T	c.(484-486)ctG>ctT	p.L162L	ACKR2_ENST00000273145.2_Silent_p.L162L|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA|ACKR2_ENST00000442925.1_Silent_p.L162L	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	162					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										CCAAGAGCCTGCTCCTTGCTA	0.537																																						ENST00000422265.1																			0											c.(484-486)ctG>ctT		atypical chemokine receptor 2							74	77	76					3																	42906480		2203	4300	6503	SO:0001819	synonymous_variant	1238							g.chr3:42906480G>T	U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"GPCR / Class A : Chemokine receptors : Atypical"	1565	protein-coding gene	gene with protein product		602648	"chemokine binding protein 2"	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.486G>T	3.37:g.42906480G>T						ACKR2_ENST00000273145.2_Silent_p.L162L|ACKR2_ENST00000442925.1_Silent_p.L162L|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000471537.1_Intron	p.L162L	NM_001296.4	NP_001287.2					3	661	+								B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Silent	SNP	ENST00000422265.1	37	c.486G>T	CCDS2706.1																																																																																				0.537	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256645.2	NM_001296		30	73	1	0	8.58068e-18	1	9.80649e-18	30	73					T	42906480	G	T	42906480	2	4	159	1	0	0	0	0	0	0	0	1	2734	1306	46	4		4	CCBP2	3	42906480	Silent	SNP	G	TCGA-DJ-A4V2-01A-11D-A257-08		42906480	155115950	1	3292											
ATR	545	broad.mit.edu	37	chr3	142266707	142266707	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taattcattatgcaatccttGgaaatcttgtctcaacaggc	6	9	3	0			TCGA-DJ-A4V2-01A-11D-A257-08	TCGA-DJ-A4V2-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ac429-f523-4c6c-b4d6-0de91d50a945	47627937-0a98-41cf-ac54-096a2900b4ae	g.chr3:142266707G>A	ENST00000350721.4	-	16	3338	c.3217C>T	c.(3217-3219)Caa>Taa	p.Q1073*	ATR_ENST00000383101.3_Nonsense_Mutation_p.Q1009*	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1073					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TGCAATCCTTGGAAATCTTGT	0.348								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(3217-3219)Caa>Taa	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							92	94	94					3																	142266707		2203	4300	6503	SO:0001587	stop_gained	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142266707G>A	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.3217C>T	3.37:g.142266707G>A	ENSP00000343741:p.Gln1073*					ATR_ENST00000383101.3_Nonsense_Mutation_p.Q1009*	p.Q1073*	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			16	3338	-			1073					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Nonsense_Mutation	SNP	ENST00000350721.4	37	c.3217C>T	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	G	42	9.686941	0.99238	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.533	20.2566	0.98424	0.0:0.0:1.0:0.0	.	.	.	.	X	1073;1009	.	ENSP00000343741:Q1073X	Q	-	1	0	ATR	143749397	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.010000	0.88615	2.793000	0.96121	0.561000	0.74099	CAA		0.348	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		16	32	0	0	0	1	0	16	32					A	142266707	G	A	142266707	4	1	159	1	0	0	0	0	0	1	0	0	1204	1357	47	2	4845	2	ATR	3	142266707	Nonsense_Mutation	SNP	G	TCGA-DJ-A4V2-01A-11D-A257-08	99360227	142266707	55755723	2	3293											
PDGFRA	5156	broad.mit.edu	37	chr4	55152040	55152040	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatctggctgctcgcaacgtCctcctggcacaaggaaaaat	10	12	1	0	rs2228230	byFrequency	TCGA-DJ-A4V2-01A-11D-A257-08	TCGA-DJ-A4V2-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ac429-f523-4c6c-b4d6-0de91d50a945	47627937-0a98-41cf-ac54-096a2900b4ae	g.chr4:55152040C>T	ENST00000257290.5	+	18	2803	c.2472C>T	c.(2470-2472)gtC>gtT	p.V824V	FIP1L1_ENST00000507166.1_Silent_p.V584V	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	824	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.V824V(15)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	CTCGCAACGTCCTCCTGGCAC	0.498			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			C|||	1204	0.240415	0.3449	0.2767	5008	,	,		22168	0.1726		0.1451	False		,,,				2504	0.2413				Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"Mis, O, T"	"platelet-derived growth factor, alpha-receptor"			"L, M, O"	FIP1L1		"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"		15	Substitution - coding silent(15)	p.V824V(15)	soft_tissue(11)|central_nervous_system(3)|endometrium(1)	NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(2470-2472)gtC>gtT		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	C		1381,3025	455.5+/-351.0	211,959,1033	186	168	174		2472	2.4	1.0	4	dbSNP_98	174	1198,7402	241.0+/-271.5	95,1008,3197	no	coding-synonymous	PDGFRA	NM_006206.4		306,1967,4230	TT,TC,CC		13.9302,31.3436,19.8293		824/1090	55152040	2579,10427	2203	4300	6503	SO:0001819	synonymous_variant	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55152040C>T	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2472C>T	4.37:g.55152040C>T		TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Silent_p.V584V	p.V824V	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		18	2803	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		824			Protein kinase.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Silent	SNP	ENST00000257290.5	37	c.2472C>T	CCDS3495.1																																																																																				0.498	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		5	117	0	0	0	1	0	5	117					T	55152040	C	T	55152040	2	4	159	1	0	0	0	0	0	0	0	1	11661	842	30	2		2	PDGFRA	4	55152040	Silent	SNP	C	TCGA-DJ-A4V2-01A-11D-A257-08		55152040	136002236	3	3294											
TDO2	6999	broad.mit.edu	37	chr4	156825198	156825198	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttaaaaaactccccgtagaaGgcagcgaagaagacaaatca	8	9	1	3			TCGA-DJ-A4V2-01A-11D-A257-08	TCGA-DJ-A4V2-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ac429-f523-4c6c-b4d6-0de91d50a945	47627937-0a98-41cf-ac54-096a2900b4ae	g.chr4:156825198G>T	ENST00000536354.2	+	2	128	c.64G>T	c.(64-66)Ggc>Tgc	p.G22C		NM_005651.3	NP_005642.1			tryptophan 2,3-dioxygenase											breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)		CCCCGTAGAAGGCAGCGAAGA	0.388																																					Colon(57;928 1036 2595 6946 26094)	ENST00000536354.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(64-66)Ggc>Tgc		tryptophan 2,3-dioxygenase	L-Tryptophan(DB00150)						85	86	86					4																	156825198		2203	4300	6503	SO:0001583	missense	6999				tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity	g.chr4:156825198G>T		CCDS34086.1	4q31-q32	2008-02-05				ENSG00000151790	1.13.11.11		11708	protein-coding gene	gene with protein product		191070					Standard	NM_005651		Approved	TDO, TPH2	uc003ipf.2	P48775		ENST00000536354.2:c.64G>T	4.37:g.156825198G>T	ENSP00000444788:p.Gly22Cys						p.G22C	NM_005651.3	NP_005642.1	P48775	T23O_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	2	128	+	all_hematologic(180;0.24)	Renal(120;0.0854)	22						Missense_Mutation	SNP	ENST00000536354.2	37	c.64G>T	CCDS34086.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404254	0.42613	.	.	ENSG00000151790	ENST00000536354	.	.	.	5.59	3.85	0.44370	.	0.430807	0.28349	N	0.015666	T	0.37919	0.1021	L	0.46157	1.445	0.33113	D	0.540753	P	0.40660	0.726	B	0.32980	0.156	T	0.53746	-0.8395	9	0.56958	D	0.05	-1.0563	12.4964	0.55931	0.1376:0.0:0.8624:0.0	.	22	P48775	T23O_HUMAN	C	22	.	ENSP00000281525:G22C	G	+	1	0	TDO2	157044648	1.000000	0.71417	0.028000	0.17463	0.678000	0.39670	4.823000	0.62694	0.714000	0.32081	0.650000	0.86243	GGC		0.388	TDO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366209.3	NM_005651		20	36	1	0	0.000175454	1	0.000183083	20	36					T	156825198	G	T	156825198	3	4	159	1	0	0	0	0	1	0	0	0	15724	1000	35	4	70	4	TDO2	4	156825198	Missense_Mutation	SNP	G	TCGA-DJ-A4V2-01A-11D-A257-08	101673158	156825198	34329078	4	3295											
CDH9	1007	broad.mit.edu	37	chr5	26903745	26903745	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaagacagtgaaaagaaaCctgtttgacagttataatcc	8	6	0	5			TCGA-DJ-A4V2-01A-11D-A257-08	TCGA-DJ-A4V2-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ac429-f523-4c6c-b4d6-0de91d50a945	47627937-0a98-41cf-ac54-096a2900b4ae	g.chr5:26903745C>T	ENST00000231021.4	-	6	1172		c.e6+1			NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)						adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TGAAAAGAAACCTGTTTGACA	0.383																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.e6+1		cadherin 9, type 2 (T1-cadherin)							202	187	192					5																	26903745		2203	4300	6503	SO:0001630	splice_region_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26903745C>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.999+1G>A	5.37:g.26903745C>T								NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			6	1172	-								Q3B7I5	Splice_Site	SNP	ENST00000231021.4	37		CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808678	0.90707	.	.	ENSG00000113100	ENST00000231021	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.906	0.92462	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDH9	26939502	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.747000	0.85070	2.881000	0.98747	0.650000	0.86243	.		0.383	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279	Intron	7	183	0	0	0	1	0	7	183					T	26903745	C	T	26903745	5	4	159	1	0	0	0	0	0	0	1	0	3117	521	18	2	1397	2	CDH9	5	26903745	Splice_Site	SNP	C	TCGA-DJ-A4V2-01A-11D-A257-08		26903745	154011515	5	3296											
CD74	972	broad.mit.edu	37	chr5	149784320	149784321	+	Frame_Shift_Del	DEL	CT	CT	-													ggagccaatggtgcatccagCtctcaaagacctaatacgga							TCGA-DJ-A4V2-01A-11D-A257-08	TCGA-DJ-A4V2-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ac429-f523-4c6c-b4d6-0de91d50a945	47627937-0a98-41cf-ac54-096a2900b4ae	g.chr5:149784320_149784321delCT	ENST00000009530.7	-	6	548_549	c.547_548delAG	c.(547-549)agcfs	p.S183fs	CD74_ENST00000377795.3_Intron|CD74_ENST00000353334.6_Frame_Shift_Del_p.S183fs|CD74_ENST00000524315.1_Intron			P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain	183					activation of MAPK activity (GO:0000187)|antigen processing and presentation of endogenous antigen (GO:0019883)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|chaperone mediated protein folding requiring cofactor (GO:0051085)|defense response (GO:0006952)|immunoglobulin mediated immune response (GO:0016064)|intracellular protein transport (GO:0006886)|macrophage migration inhibitory factor signaling pathway (GO:0035691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of peptide secretion (GO:0002792)|negative regulation of T cell differentiation (GO:0045581)|negative thymic T cell selection (GO:0045060)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of type 2 immune response (GO:0002830)|positive thymic T cell selection (GO:0045059)|prostaglandin biosynthetic process (GO:0001516)|protein complex assembly (GO:0006461)|regulation of macrophage activation (GO:0043030)|signal transduction (GO:0007165)|T cell selection (GO:0045058)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|macrophage migration inhibitory factor receptor complex (GO:0035692)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|NOS2-CD74 complex (GO:0035693)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)|vacuole (GO:0005773)	beta-amyloid binding (GO:0001540)|cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|macrophage migration inhibitory factor binding (GO:0035718)|MHC class II protein binding (GO:0042289)|MHC class II protein binding, via antigen binding groove (GO:0042658)|MHC class II protein complex binding (GO:0023026)|protein binding involved in protein folding (GO:0044183)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGCATCCAGCTCTCAAAGACC	0.559			T	ROS1	NSCLC																																	ENST00000353334.6				Dom	yes		5	5q32	972	T	"CD74 molecule, major histocompatibility complex, class II invariant chain"			E	ROS1		NSCLC		0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5						c.(547-549)cfs		CD74 molecule, major histocompatibility complex, class II invariant chain																																				SO:0001589	frameshift_variant	972				antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding	g.chr5:149784320_149784321delCT		CCDS34276.1, CCDS47308.1, CCDS47309.1	5q32	2012-09-20	2006-03-28		ENSG00000019582	ENSG00000019582		"CD molecules"	1697	protein-coding gene	gene with protein product	"HLA-DR-gamma", "Ia-associated invariant chain", "gamma chain of class II antigens", "MHC HLA-DR gamma chain"	142790	"CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated)"	DHLAG		6324166, 3001652	Standard	NM_004355		Approved		uc003lsc.3	P04233	OTTHUMG00000163559	ENST00000009530.7:c.547_548delAG	5.37:g.149784322_149784323delCT	ENSP00000009530:p.Ser183fs					CD74_ENST00000009530.7_Frame_Shift_Del_p.S183fs|CD74_ENST00000524315.1_Intron|CD74_ENST00000377795.3_Intron	p.S183fs	NM_001025159.2|NM_004355.3	NP_001020330.1|NP_004346.1	P04233	HG2A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	726_727	-		all_hematologic(541;0.224)	183					A8K7R1|B4DNE8|D3DQG3|D3DQG4|Q14597|Q29832|Q5U0J8|Q8SNA0|Q8WLP6	Frame_Shift_Del	DEL	ENST00000009530.7	37	c.547_548delAG	CCDS47309.1																																																																																				0.559	CD74-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374178.1	NM_004355		2	4						2	4	---	---	---	---	-	149784321	CT	-	149784320	7	5	159	1	0	1	0	1	0	0	0	0	3035	797	28	0	358	0	CD74	5	149784320	Frame_Shift_Del	DEL	CT	TCGA-DJ-A4V2-01A-11D-A257-08	122880575	149784320	31130940	6	3297											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A4V2-01A-11D-A257-08	TCGA-DJ-A4V2-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ac429-f523-4c6c-b4d6-0de91d50a945	47627937-0a98-41cf-ac54-096a2900b4ae	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		26	43	0	0	0	1	0	26	43					T	140453136	A	T	140453136	3	4	159	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A4V2-01A-11D-A257-08		140453136	18685527	7	3298											
WAC	51322	broad.mit.edu	37	chr10	28897268	28897268	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccaatacctcccttacttcAggacccaaatcttcttagac	4	15	3	1			TCGA-DJ-A4V2-01A-11D-A257-08	TCGA-DJ-A4V2-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ac429-f523-4c6c-b4d6-0de91d50a945	47627937-0a98-41cf-ac54-096a2900b4ae	g.chr10:28897268A>G	ENST00000354911.4	+	8	1234	c.1073A>G	c.(1072-1074)cAg>cGg	p.Q358R	WAC_ENST00000428935.1_Missense_Mutation_p.Q313R|WAC_ENST00000347934.4_Missense_Mutation_p.Q255R|WAC_ENST00000375664.4_Missense_Mutation_p.Q313R|WAC_ENST00000375646.1_Missense_Mutation_p.Q210R	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	358					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						CCCTTACTTCAGGACCCAAAT	0.453																																						ENST00000375664.3																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						c.(937-939)cAg>cGg		WW domain containing adaptor with coiled-coil							79	71	73					10																	28897268		2203	4300	6503	SO:0001583	missense	51322				cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	g.chr10:28897268A>G	AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"WW domain-containing adaptor with coiled coil"			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.1073A>G	10.37:g.28897268A>G	ENSP00000346986:p.Gln358Arg					WAC_ENST00000354911.4_Missense_Mutation_p.Q358R|WAC_ENST00000375646.1_Missense_Mutation_p.Q210R|WAC_ENST00000347934.4_Missense_Mutation_p.Q255R|WAC_ENST00000428935.1_Missense_Mutation_p.Q313R	p.Q313R			Q9BTA9	WAC_HUMAN			8	1547	+			358					A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Missense_Mutation	SNP	ENST00000354911.4	37	c.938A>G	CCDS7159.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.2|24.2	4.501478|4.501478	0.85176|0.85176	.|.	.|.	ENSG00000095787|ENSG00000095787	ENST00000538000|ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911;ENST00000428935;ENST00000424454	.|T;T;T;T;T	.|0.36699	.|1.77;1.56;1.63;1.76;1.24	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.53351	.|0.1791	L|L	0.50333|0.50333	1.59|1.59	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D;D	.|0.57899	.|0.981;0.981;0.967;0.981	.|D;D;D;D	.|0.70487	.|0.969;0.969;0.932;0.969	.|T	.|0.47328	.|-0.9126	.|10	.|0.34782	.|T	.|0.22	.|-7.707	15.8499|15.8499	0.78921|0.78921	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|313;255;358;313	.|Q9BTA9-2;Q9BTA9-5;Q9BTA9;Q9BTA9-3	.|.;.;WAC_HUMAN;.	.|R	-1|313;210;255;358;313;313	.|ENSP00000364816:Q313R;ENSP00000364797:Q210R;ENSP00000311106:Q255R;ENSP00000346986:Q358R;ENSP00000399706:Q313R	.|ENSP00000311106:Q255R	.|Q	+|+	.|2	.|0	WAC|WAC	28937274|28937274	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	8.865000|8.865000	0.92300|0.92300	2.203000|2.203000	0.70933|0.70933	0.482000|0.482000	0.46254|0.46254	.|CAG		0.453	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	NM_100264		3	51	0	0	0	1	0	3	51					G	28897268	A	G	28897268	3	3	159	1	0	0	0	0	1	0	0	0	17244	188	7	3	1103	3	WAC	10	28897268	Missense_Mutation	SNP	A	TCGA-DJ-A4V2-01A-11D-A257-08		28897268	106637479	8	3299											
CEP164	22897	broad.mit.edu	37	chr11	117280645	117280645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtggctcaaacggtggacGacttcctgttggagaagtgg	15	8	1	1	rs200520898		TCGA-DJ-A4V2-01A-11D-A257-08	TCGA-DJ-A4V2-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ac429-f523-4c6c-b4d6-0de91d50a945	47627937-0a98-41cf-ac54-096a2900b4ae	g.chr11:117280645G>A	ENST00000278935.3	+	30	4207	c.4060G>A	c.(4060-4062)Gac>Aac	p.D1354N	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1354					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AACGGTGGACGACTTCCTGTT	0.587																																						ENST00000278935.3																			0				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47						c.(4060-4062)Gac>Aac		centrosomal protein 164kDa		G	ASN/ASP	1,4401	2.1+/-5.4	0,1,2200	60	62	61		4060	3.3	1.0	11		61	4,8588	3.0+/-9.4	0,4,4292	yes	missense	CEP164	NM_014956.4	23	0,5,6492	AA,AG,GG		0.0466,0.0227,0.0385	probably-damaging	1354/1461	117280645	5,12989	2201	4296	6497	SO:0001583	missense	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117280645G>A	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.4060G>A	11.37:g.117280645G>A	ENSP00000278935:p.Asp1354Asn					CEP164_ENST00000533706.1_3'UTR	p.D1354N	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	30	4207	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	1354					Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	c.4060G>A	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.602001	0.46423	2.27E-4	4.66E-4	ENSG00000110274	ENST00000278935	T	0.28255	1.62	4.4	3.35	0.38373	.	0.259238	0.27535	N	0.018926	T	0.19287	0.0463	L	0.50333	1.59	0.26284	N	0.978237	B;B	0.32350	0.366;0.366	B;B	0.17722	0.019;0.019	T	0.12889	-1.0530	10	0.39692	T	0.17	-11.3448	2.7669	0.05322	0.2339:0.2934:0.4727:0.0	.	1354;1349	Q9UPV0;Q9UPV0-2	CE164_HUMAN;.	N	1354	ENSP00000278935:D1354N	ENSP00000278935:D1354N	D	+	1	0	CEP164	116785855	0.980000	0.34600	0.989000	0.46669	0.615000	0.37417	2.265000	0.43311	2.006000	0.58801	0.561000	0.74099	GAC		0.587	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		25	61	0	0	0	1	0	25	61					A	117280645	G	A	117280645	3	1	159	1	0	0	0	0	1	0	0	0	3249	1058	37	1	4170	1	CEP164	11	117280645	Missense_Mutation	SNP	G	TCGA-DJ-A4V2-01A-11D-A257-08		117280645	17725871	9	3300											
GJD2	57369	broad.mit.edu	37	chr15	35045227	35045227	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcaacttcttatcttctcGtttgcccccaccactgcccc	4	18	3	0			TCGA-DJ-A4V2-01A-11D-A257-08	TCGA-DJ-A4V2-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ac429-f523-4c6c-b4d6-0de91d50a945	47627937-0a98-41cf-ac54-096a2900b4ae	g.chr15:35045227G>A	ENST00000290374.4	-	2	894	c.418C>T	c.(418-420)Cga>Tga	p.R140*	RP11-814P5.1_ENST00000503496.1_RNA|RP11-814P5.1_ENST00000558707.1_RNA	NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	140					action potential (GO:0001508)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		TTATCTTCTCGTTTGCCCCCA	0.532																																						ENST00000290374.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19						c.(418-420)Cga>Tga		gap junction protein, delta 2, 36kDa							130	135	133					15																	35045227		2201	4298	6499	SO:0001587	stop_gained	57369				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr15:35045227G>A	AB037509	CCDS10040.1	15q13.1	2008-02-04	2007-11-06	2007-11-06	ENSG00000159248	ENSG00000159248		"Ion channels / Gap junction proteins (connexins)"	19154	protein-coding gene	gene with protein product	"connexin 36"	607058	"gap junction protein, alpha 9, 36kDa"	GJA9		10462698	Standard	NM_020660		Approved	CX36	uc001zis.2	Q9UKL4	OTTHUMG00000129674	ENST00000290374.4:c.418C>T	15.37:g.35045227G>A	ENSP00000290374:p.Arg140*						p.R140*	NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)	2	894	-		all_lung(180;9.67e-07)	140					Q2M241|Q9P2R0	Nonsense_Mutation	SNP	ENST00000290374.4	37	c.418C>T	CCDS10040.1	.	.	.	.	.	.	.	.	.	.	G	39	7.644941	0.98409	.	.	ENSG00000159248	ENST00000290374	.	.	.	5.44	3.48	0.39840	.	1.388510	0.04567	N	0.392577	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	12.2373	0.54522	0.0:0.0:0.6906:0.3094	.	.	.	.	X	140	.	ENSP00000290374:R140X	R	-	1	2	GJD2	32832519	1.000000	0.71417	0.977000	0.42913	0.994000	0.84299	2.424000	0.44714	0.778000	0.33520	0.650000	0.86243	CGA		0.532	GJD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251875.2			40	132	0	0	0	1	0	40	132					A	35045227	G	A	35045227	4	1	159	1	0	0	0	0	0	1	0	0	6417	1153	40	1	551	1	GJD2	15	35045227	Nonsense_Mutation	SNP	G	TCGA-DJ-A4V2-01A-11D-A257-08		35045227	67486165	10	3301											
ABCC6	368	broad.mit.edu	37	chr16	16315534	16315534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgaagagtggggacatcCggaggtagccccggccatgg	16	10	0	2			TCGA-DJ-A4V2-01A-11D-A257-08	TCGA-DJ-A4V2-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ac429-f523-4c6c-b4d6-0de91d50a945	47627937-0a98-41cf-ac54-096a2900b4ae	g.chr16:16315534C>T	ENST00000205557.7	-	2	220	c.191G>A	c.(190-192)cGg>cAg	p.R64Q	ABCC6_ENST00000574094.1_5'UTR|ABCC6_ENST00000575728.1_Missense_Mutation_p.R64Q|RP11-517A5.7_ENST00000574883.1_RNA	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	64			R -> W. {ECO:0000269|PubMed:10493829, ECO:0000269|PubMed:11058917, ECO:0000269|PubMed:9892204}.		response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	TGGGGACATCCGGAGGTAGCC	0.612																																						ENST00000205557.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43						c.(190-192)cGg>cAg		ATP-binding cassette, sub-family C (CFTR/MRP), member 6							35	34	34					16																	16315534		2196	4300	6496	SO:0001583	missense	368				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16315534C>T	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"ATP binding cassette transporters / subfamily C"	57	protein-coding gene	gene with protein product		603234	"pseudoxanthoma elasticum"	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.191G>A	16.37:g.16315534C>T	ENSP00000205557:p.Arg64Gln					ABCC6_ENST00000575728.1_Missense_Mutation_p.R64Q|ABCC6_ENST00000574094.1_5'UTR	p.R64Q	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	2	220	-			64		R -> W.			A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	c.191G>A	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	.	13.34	2.208212	0.39003	.	.	ENSG00000091262	ENST00000205557;ENST00000456970;ENST00000546056	T;T	0.56776	0.44;0.44	4.72	2.71	0.32032	.	0.148720	0.29892	N	0.010939	T	0.36110	0.0955	L	0.27053	0.805	0.32857	D	0.507474	P;P;B	0.51351	0.591;0.944;0.051	B;B;B	0.41988	0.034;0.372;0.008	T	0.46816	-0.9164	10	0.35671	T	0.21	.	8.6556	0.34062	0.0:0.8124:0.0:0.1876	.	64;64;64	F5GWQ0;Q8TCY8;O95255	.;.;MRP6_HUMAN	Q	64	ENSP00000205557:R64Q;ENSP00000405002:R64Q	ENSP00000205557:R64Q	R	-	2	0	ABCC6	16223035	0.871000	0.30034	0.997000	0.53966	0.377000	0.30045	0.466000	0.22019	0.516000	0.28340	-0.350000	0.07774	CGG		0.612	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			3	35	0	0	0	1	0	3	35					T	16315534	C	T	16315534	3	4	159	1	0	0	0	0	1	0	0	0	57	652	23	1	4521	1	ABCC6	16	16315534	Missense_Mutation	SNP	C	TCGA-DJ-A4V2-01A-11D-A257-08		16315534	74039219	11	3302											
CPD	1362	broad.mit.edu	37	chr17	28706683	28706683	+	Frame_Shift_Del	DEL	C	C	-													accagtttagcaccggcgaaCcccccgccctggacgaggtg					rs530282755		TCGA-DJ-A4V2-01A-11D-A257-08	TCGA-DJ-A4V2-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ac429-f523-4c6c-b4d6-0de91d50a945	47627937-0a98-41cf-ac54-096a2900b4ae	g.chr17:28706683delC	ENST00000225719.4	+	1	761	c.685delC	c.(685-687)cccfs	p.P230fs	CPD_ENST00000543464.2_5'Flank	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	230	Carboxypeptidase-like 1.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						CACCGGCGAACCCCCCGCCCT	0.701																																						ENST00000225719.4																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						c.(685-687)ccfs		carboxypeptidase D																																				SO:0001589	frameshift_variant	1362				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	g.chr17:28706683delC	U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"metallocarboxypeptidase D"	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.685delC	17.37:g.28706683delC	ENSP00000225719:p.Pro230fs						p.P230fs	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN			1	761	+			230			Carboxypeptidase-like 1.		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Frame_Shift_Del	DEL	ENST00000225719.4	37	c.685delC	CCDS11257.1																																																																																				0.701	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304		3	5						3	5	---	---	---	---	-	28706683	C	-	28706683	7	5	159	1	0	1	0	1	0	0	0	0	3798	507	18	0	687	0	CPD	17	28706683	Frame_Shift_Del	DEL	C	TCGA-DJ-A4V2-01A-11D-A257-08		28706683	52488527	12	3303											
GPR179	440435	broad.mit.edu	37	chr17	36486995	36486995	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaccgtcaggttgtgggcGctggctgacctgaagcccag	14	14	1	2			TCGA-DJ-A4V2-01A-11D-A257-08	TCGA-DJ-A4V2-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ac429-f523-4c6c-b4d6-0de91d50a945	47627937-0a98-41cf-ac54-096a2900b4ae	g.chr17:36486995G>A	ENST00000342292.4	-	11	2477	c.2457C>T	c.(2455-2457)agC>agT	p.S819S	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	819					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)				GGTTGTGGGCGCTGGCTGACC	0.652																																						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.(2455-2457)agC>agT		G protein-coupled receptor 179							10	12	11					17																	36486995		1908	4091	5999	SO:0001819	synonymous_variant	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36486995G>A		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.2457C>T	17.37:g.36486995G>A							p.S819S	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			11	2477	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	819						Silent	SNP	ENST00000342292.4	37	c.2457C>T	CCDS42308.1																																																																																				0.652	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			5	5	0	0	0	1	0	5	5					A	36486995	G	A	36486995	2	1	159	1	0	0	0	0	0	0	0	1	6674	1078	38	1		1	GPR179	17	36486995	Silent	SNP	G	TCGA-DJ-A4V2-01A-11D-A257-08	7780312	36486995	44708215	13	3304											
CLTCL1	8218	broad.mit.edu	37	chr22	19222058	19222058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagacgctgcaactttggCggcttcagcatagctgccct	11	13	1	1			TCGA-DJ-A4V2-01A-11D-A257-08	TCGA-DJ-A4V2-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ac429-f523-4c6c-b4d6-0de91d50a945	47627937-0a98-41cf-ac54-096a2900b4ae	g.chr22:19222058C>T	ENST00000263200.10	-	7	1213	c.1141G>A	c.(1141-1143)Gcc>Acc	p.A381T	CLTCL1_ENST00000353891.5_Missense_Mutation_p.A381T|CLTCL1_ENST00000427926.1_Missense_Mutation_p.A381T	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	381	Globular terminal domain.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GCAACTTTGGCGGCTTCAGCA	0.453			T	?	ALCL																																	ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"clathrin, heavy polypeptide-like 1"			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1141-1143)Gcc>Acc		clathrin, heavy chain-like 1							44	44	44					22																	19222058		1893	4120	6013	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19222058C>T		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.1141G>A	22.37:g.19222058C>T	ENSP00000445677:p.Ala381Thr					CLTCL1_ENST00000353891.5_Missense_Mutation_p.A381T|CLTCL1_ENST00000427926.1_Missense_Mutation_p.A381T	p.A381T	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN			7	1213	-	Colorectal(54;0.0993)		381			Globular terminal domain.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.1141G>A	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973458	0.74246	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.57907	0.37;0.37;0.37	3.29	3.29	0.37713	Armadillo-type fold (1);	0.079527	0.49305	D	0.000154	T	0.69396	0.3106	M	0.93197	3.39	0.80722	D	1	P;B	0.40970	0.734;0.233	P;B	0.46076	0.503;0.234	T	0.80306	-0.1438	10	0.66056	D	0.02	-9.9549	15.0953	0.72229	0.0:1.0:0.0:0.0	.	381;381	P53675-2;P53675	.;CLH2_HUMAN	T	381	ENSP00000439662:A381T;ENSP00000445677:A381T;ENSP00000441158:A381T	ENSP00000445677:A381T	A	-	1	0	CLTCL1	17602058	0.999000	0.42202	1.000000	0.80357	0.860000	0.49131	4.094000	0.57721	1.847000	0.53656	0.460000	0.39030	GCC		0.453	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		3	31	0	0	0	1	0	3	31					T	19222058	C	T	19222058	3	4	159	1	0	0	0	0	1	0	0	0	3567	768	27	1	3885	1	CLTCL1	22	19222058	Missense_Mutation	SNP	C	TCGA-DJ-A4V2-01A-11D-A257-08		19222058	32082508	14	3305											
PCDH11X	27328	broad.mit.edu	37	chrX	91133044	91133044	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatcctgattatggagacaAttctgcagttacgctctcca	8	10	2	3			TCGA-DJ-A4V2-01A-11D-A257-08	TCGA-DJ-A4V2-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ac429-f523-4c6c-b4d6-0de91d50a945	47627937-0a98-41cf-ac54-096a2900b4ae	g.chrX:91133044A>G	ENST00000373094.1	+	2	2650	c.1805A>G	c.(1804-1806)aAt>aGt	p.N602S	PCDH11X_ENST00000504220.2_Missense_Mutation_p.N602S|PCDH11X_ENST00000298274.8_Missense_Mutation_p.N602S|PCDH11X_ENST00000395337.2_Missense_Mutation_p.N602S|PCDH11X_ENST00000361655.2_Missense_Mutation_p.N602S|PCDH11X_ENST00000373097.1_Missense_Mutation_p.N602S|PCDH11X_ENST00000373088.1_Missense_Mutation_p.N602S|PCDH11X_ENST00000361724.1_Missense_Mutation_p.N602S|PCDH11X_ENST00000406881.1_Missense_Mutation_p.N602S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	602	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TATGGAGACAATTCTGCAGTT	0.378																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(1804-1806)aAt>aGt		protocadherin 11 X-linked							29	26	27					X																	91133044		2199	4275	6474	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133044A>G	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1805A>G	X.37:g.91133044A>G	ENSP00000362186:p.Asn602Ser					PCDH11X_ENST00000361655.2_Missense_Mutation_p.N602S|PCDH11X_ENST00000298274.8_Missense_Mutation_p.N602S|PCDH11X_ENST00000373097.1_Missense_Mutation_p.N602S|PCDH11X_ENST00000373088.1_Missense_Mutation_p.N602S|PCDH11X_ENST00000361724.1_Missense_Mutation_p.N602S|PCDH11X_ENST00000406881.1_Missense_Mutation_p.N602S|PCDH11X_ENST00000395337.2_Missense_Mutation_p.N602S|PCDH11X_ENST00000504220.1_Missense_Mutation_p.N602S	p.N602S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			2	2650	+			602			Cadherin 6.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.1805A>G	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	A	12.25	1.882232	0.33255	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22	5.35	5.35	0.76521	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.78559	0.4302	M	0.86740	2.835	0.53005	D	0.999962	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;0.999;0.999	D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.998;0.999;0.999;0.999;0.998;0.998	T	0.82678	-0.0338	10	0.87932	D	0	.	13.4504	0.61167	1.0:0.0:0.0:0.0	.	602;602;602;602;602;602;602;602	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	S	602	ENSP00000378746:N602S;ENSP00000362186:N602S;ENSP00000362189:N602S;ENSP00000355040:N602S;ENSP00000362180:N602S;ENSP00000423762:N602S;ENSP00000355105:N602S;ENSP00000384758:N602S;ENSP00000298274:N602S	ENSP00000298274:N602S	N	+	2	0	PCDH11X	91019700	1.000000	0.71417	1.000000	0.80357	0.125000	0.20455	8.999000	0.93557	1.771000	0.52183	0.339000	0.21740	AAT		0.378	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		6	63	0	0	0	1	0	6	63					G	91133044	A	G	91133044	3	3	159	1	0	0	0	0	1	0	0	0	11508	101	4	3	1811	3	PCDH11X	23	91133044	Missense_Mutation	SNP	A	TCGA-DJ-A4V2-01A-11D-A257-08		91133044	64137516	15	3306											
CRB1	23418	broad.mit.edu	37	chr1	197391022	197391022	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	caaagcagaggacgctgcatCaacttgtggctgagttacca	11	10	1	2			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr1:197391022C>G	ENST00000367400.3	+	6	2199	c.2064C>G	c.(2062-2064)atC>atG	p.I688M	CRB1_ENST00000367397.1_Missense_Mutation_p.I69M|CRB1_ENST00000544212.1_Missense_Mutation_p.I169M|CRB1_ENST00000538660.1_Missense_Mutation_p.I688M|CRB1_ENST00000367399.2_Missense_Mutation_p.I576M|CRB1_ENST00000535699.1_Missense_Mutation_p.I619M|CRB1_ENST00000543483.1_3'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	688	EGF-like 12. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GACGCTGCATCAACTTGTGGC	0.512																																						ENST00000367397.1																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(205-207)atC>atG		crumbs homolog 1 (Drosophila)							77	76	76					1																	197391022		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197391022C>G		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"crumbs (Drosophila) homolog 1", "crumbs homolog 1 (Drosophila)"	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2064C>G	1.37:g.197391022C>G	ENSP00000356370:p.Ile688Met					CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.I688M|CRB1_ENST00000367399.2_Missense_Mutation_p.I576M|CRB1_ENST00000367400.3_Missense_Mutation_p.I688M|CRB1_ENST00000544212.1_Missense_Mutation_p.I169M|CRB1_ENST00000535699.1_Missense_Mutation_p.I619M	p.I69M			P82279	CRUM1_HUMAN			2	1065	+			688					A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.207C>G	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.495573	0.26774	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	T;T;T;T;T;T	0.80304	-0.22;-1.36;-0.22;-1.36;-1.36;-1.36	5.65	3.73	0.42828	Concanavalin A-like lectin/glucanase, subgroup (1);EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.84826	0.5558	L	0.56769	1.78	0.33940	D	0.643168	P;P;D;B;P	0.61080	0.889;0.775;0.989;0.167;0.845	P;P;P;B;P	0.59546	0.597;0.515;0.859;0.085;0.626	D	0.87790	0.2618	9	0.48119	T	0.1	.	12.6397	0.56702	0.1322:0.7408:0.1269:0.0	.	688;619;576;337;688	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	M	619;688;688;576;169;69;337	ENSP00000438786:I619M;ENSP00000438091:I688M;ENSP00000356370:I688M;ENSP00000356369:I576M;ENSP00000444556:I169M;ENSP00000356367:I69M	ENSP00000356367:I69M	I	+	3	3	CRB1	195657645	1.000000	0.71417	0.494000	0.27515	0.003000	0.03518	2.017000	0.40981	0.690000	0.31570	-0.188000	0.12872	ATC		0.512	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		9	60	0	0	0	1	0	9	60					G	197391022	C	G	197391022	3	3	160	1	0	0	0	0	1	0	0	0	3848	816	29	4	2086	4	CRB1	1	197391022	Missense_Mutation	SNP	C	TCGA-DJ-A4V4-01A-11D-A257-08		197391022	51859599	1	3307											
C2orf86	51057	broad.mit.edu	37	chr2	63401895	63401895	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tatctggaaatgagtcttctCcttgaggtgctaaagacagg	11	7	3	3			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr2:63401895C>G	ENST00000272321.7	-	15	2515	c.1988G>C	c.(1987-1989)gGa>gCa	p.G663A	WDPCP_ENST00000398544.3_Missense_Mutation_p.G504A|WDPCP_ENST00000409199.1_Missense_Mutation_p.G471A|WDPCP_ENST00000409120.1_Missense_Mutation_p.G471A	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	663					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						TGAGTCTTCTCCTTGAGGTGC	0.418																																						ENST00000409120.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						c.(1411-1413)gGa>gCa		WD repeat containing planar cell polarity effector							160	147	151					2																	63401895		1859	4092	5951	SO:0001583	missense	51057				cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		g.chr2:63401895C>G		CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"chromosome 2 open reading frame 86"	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.1988G>C	2.37:g.63401895C>G	ENSP00000272321:p.Gly663Ala					WDPCP_ENST00000398544.3_Missense_Mutation_p.G504A|WDPCP_ENST00000409199.1_Missense_Mutation_p.G471A|WDPCP_ENST00000272321.7_Missense_Mutation_p.G663A	p.G471A			O95876	FRITZ_HUMAN			9	4962	-			663					Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	ENST00000272321.7	37	c.1412G>C	CCDS42688.1	.	.	.	.	.	.	.	.	.	.	C	4.607	0.112834	0.08831	.	.	ENSG00000143951	ENST00000272321;ENST00000409199;ENST00000409120;ENST00000398544	T;T;T;T	0.70282	-0.47;0.11;0.11;0.11	5.51	1.29	0.21616	.	0.306550	0.22912	N	0.054126	T	0.47303	0.1438	N	0.19112	0.55	0.21933	N	0.99947	B;B	0.06786	0.001;0.0	B;B	0.06405	0.001;0.002	T	0.19192	-1.0313	10	0.17369	T	0.5	-1.6933	5.7207	0.17985	0.0:0.3929:0.4145:0.1925	.	663;504	O95876;O95876-3	FRITZ_HUMAN;.	A	663;471;471;504	ENSP00000272321:G663A;ENSP00000386592:G471A;ENSP00000386769:G471A;ENSP00000381552:G504A	ENSP00000272321:G663A	G	-	2	0	WDPCP	63255399	0.239000	0.23836	0.589000	0.28718	0.893000	0.52053	0.149000	0.16243	0.248000	0.21435	-0.428000	0.05917	GGA		0.418	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910		8	72	0	0	0	1	0	8	72					G	63401895	C	G	63401895	3	3	160	1	0	0	0	0	1	0	0	0	2201	855	30	4	268	4	C2orf86	2	63401895	Missense_Mutation	SNP	C	TCGA-DJ-A4V4-01A-11D-A257-08		63401895	179797478	2	3308											
AFTPH	54812	broad.mit.edu	37	chr2	64779995	64779995	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgagtgatgccacttttgaaGagtcttcagagcactttcca	9	9	2	5			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr2:64779995G>A	ENST00000422803.1	+	2	1701	c.1387G>A	c.(1387-1389)Gag>Aag	p.E463K	AFTPH_ENST00000238856.4_Missense_Mutation_p.E463K|AFTPH_ENST00000238855.7_Missense_Mutation_p.E463K|AFTPH_ENST00000409933.1_Missense_Mutation_p.E463K|AFTPH_ENST00000409183.1_Missense_Mutation_p.E94K			Q6ULP2	AFTIN_HUMAN	aftiphilin	463					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						CACTTTTGAAGAGTCTTCAGA	0.408																																						ENST00000422803.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(1387-1389)Gag>Aag		aftiphilin							156	151	152					2																	64779995		2203	4300	6503	SO:0001583	missense	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64779995G>A	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.1387G>A	2.37:g.64779995G>A	ENSP00000397726:p.Glu463Lys					AFTPH_ENST00000238855.7_Missense_Mutation_p.E463K|AFTPH_ENST00000409933.1_Missense_Mutation_p.E463K|AFTPH_ENST00000409183.1_Missense_Mutation_p.E94K|AFTPH_ENST00000238856.4_Missense_Mutation_p.E463K	p.E463K			Q6ULP2	AFTIN_HUMAN			2	1701	+			463					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	ENST00000422803.1	37	c.1387G>A		.	.	.	.	.	.	.	.	.	.	G	12.58	1.980426	0.34942	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933;ENST00000409183	T;T;T;T;T	0.44482	1.92;1.92;1.92;1.92;0.92	6.06	4.26	0.50523	.	0.322570	0.33792	N	0.004544	T	0.32585	0.0834	L	0.38531	1.155	0.24268	N	0.995256	B;B;P;P	0.49559	0.01;0.01;0.925;0.925	B;B;B;B	0.44163	0.006;0.006;0.443;0.443	T	0.13150	-1.0520	10	0.33141	T	0.24	-4.3233	8.1313	0.31029	0.2879:0.0:0.7121:0.0	.	463;463;463;463	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	K	463;463;463;463;94	ENSP00000238856:E463K;ENSP00000397726:E463K;ENSP00000238855:E463K;ENSP00000387071:E463K;ENSP00000386913:E94K	ENSP00000238855:E463K	E	+	1	0	AFTPH	64633499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.597000	0.36729	1.567000	0.49668	0.650000	0.86243	GAG		0.408	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		15	114	0	0	0	1	0	15	114					A	64779995	G	A	64779995	3	1	160	1	0	0	0	0	1	0	0	0	364	943	33	2	1389	2	AFTPH	2	64779995	Missense_Mutation	SNP	G	TCGA-DJ-A4V4-01A-11D-A257-08	1378100	64779995	178419378	3	3309			1	9		2	2	31	G		2.325798e-05
AFTPH	54812	broad.mit.edu	37	chr2	64780025	64780025	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agcactttccacattttagtGaaccaggtgatgactttgga	9	8	0	3			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr2:64780025G>T	ENST00000422803.1	+	2	1731	c.1417G>T	c.(1417-1419)Gaa>Taa	p.E473*	AFTPH_ENST00000238856.4_Nonsense_Mutation_p.E473*|AFTPH_ENST00000238855.7_Nonsense_Mutation_p.E473*|AFTPH_ENST00000409933.1_Nonsense_Mutation_p.E473*|AFTPH_ENST00000487769.1_3'UTR|AFTPH_ENST00000409183.1_Nonsense_Mutation_p.E104*			Q6ULP2	AFTIN_HUMAN	aftiphilin	473					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						ACATTTTAGTGAACCAGGTGA	0.403																																						ENST00000422803.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(1417-1419)Gaa>Taa		aftiphilin							130	129	129					2																	64780025		2203	4300	6503	SO:0001587	stop_gained	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64780025G>T	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.1417G>T	2.37:g.64780025G>T	ENSP00000397726:p.Glu473*					AFTPH_ENST00000487769.1_3'UTR|AFTPH_ENST00000238855.7_Nonsense_Mutation_p.E473*|AFTPH_ENST00000409933.1_Nonsense_Mutation_p.E473*|AFTPH_ENST00000409183.1_Nonsense_Mutation_p.E104*|AFTPH_ENST00000238856.4_Nonsense_Mutation_p.E473*	p.E473*			Q6ULP2	AFTIN_HUMAN			2	1731	+			473					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Nonsense_Mutation	SNP	ENST00000422803.1	37	c.1417G>T		.	.	.	.	.	.	.	.	.	.	G	41	8.818756	0.98966	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933;ENST00000409183	.	.	.	6.06	5.18	0.71444	.	0.335724	0.31020	N	0.008406	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-9.9184	9.5065	0.39051	0.165:0.0:0.835:0.0	.	.	.	.	X	473;473;473;473;104	.	ENSP00000238855:E473X	E	+	1	0	AFTPH	64633529	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.252000	0.32874	2.880000	0.98712	0.650000	0.86243	GAA		0.403	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		7	119	1	0	2.0095e-06	1	2.22102e-06	7	119					T	64780025	G	T	64780025	4	4	160	1	0	0	0	0	0	1	0	0	364	1291	45	4	1419	4	AFTPH	2	64780025	Nonsense_Mutation	SNP	G	TCGA-DJ-A4V4-01A-11D-A257-08	30	64780025	178419348	4	3310			1	9		2	2	31	G		2.325798e-05
CUL3	8452	broad.mit.edu	37	chr2	225362566	225362566	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgtttggctaagtagaaCcttcagtaaatcaaaccagg	9	8	2	1			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr2:225362566C>A	ENST00000264414.4	-	12	1949	c.1611G>T	c.(1609-1611)agG>agT	p.R537S	CUL3_ENST00000409096.1_Splice_Site_p.R513S|CUL3_ENST00000344951.4_Splice_Site_p.R471S|CUL3_ENST00000409777.1_Splice_Site_p.R513S	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	537					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CTAAGTAGAACCTTCAGTAAA	0.373																																						ENST00000264414.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46						c.e12-1		cullin 3							119	111	114					2																	225362566		2203	4300	6503	SO:0001630	splice_region_variant	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225362566C>A	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.1611-1G>T	2.37:g.225362566C>A						CUL3_ENST00000409096.1_Splice_Site_p.R513_splice|CUL3_ENST00000344951.4_Splice_Site_p.R471_splice|CUL3_ENST00000409777.1_Splice_Site_p.R513_splice	p.R537_splice	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	12	1949	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	537					A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Splice_Site	SNP	ENST00000264414.4	37	c.1610_splice	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	C	7.229	0.598958	0.13939	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	6.16	5.28	0.74379	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	T	0.52773	0.1755	L	0.31420	0.93	0.80722	D	1	B;B;B	0.15141	0.012;0.003;0.003	B;B;B	0.15484	0.008;0.007;0.013	T	0.44050	-0.9353	10	0.07813	T	0.8	.	9.4501	0.38721	0.0:0.8484:0.0:0.1516	.	471;515;537	Q13618-3;Q53S54;Q13618	.;.;CUL3_HUMAN	S	537;471;513;513	ENSP00000264414:R537S;ENSP00000343601:R471S;ENSP00000387200:R513S;ENSP00000386525:R513S	ENSP00000264414:R537S	R	-	3	2	CUL3	225070810	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.937000	0.28951	2.937000	0.99478	0.650000	0.86243	AGG		0.373	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2		Missense_Mutation	5	48	1	0	1.23904e-05	1	1.30099e-05	5	48					A	225362566	C	A	225362566	5	1	160	1	0	0	0	0	0	0	1	0	4056	521	18	4	715	4	CUL3	2	225362566	Splice_Site	SNP	C	TCGA-DJ-A4V4-01A-11D-A257-08	160582541	225362566	17836807	5	3311											
PPP1R7	5510	broad.mit.edu	37	chr2	242109234	242109234	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gacattgcatcaaatagaatCaaaaagattgaaaatatcag	6	5	3	3			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr2:242109234C>G	ENST00000234038.6	+	9	1332	c.858C>G	c.(856-858)atC>atG	p.I286M	PPP1R7_ENST00000407025.1_Missense_Mutation_p.I286M|PPP1R7_ENST00000272983.8_Missense_Mutation_p.I243M	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	286					positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	enzyme regulator activity (GO:0030234)|protein phosphatase type 1 regulator activity (GO:0008599)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		CAAATAGAATCAAAAAGATTG	0.378																																					NSCLC(62;446 1299 5417 11238 27640)	ENST00000234038.6																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23						c.(856-858)atC>atG		protein phosphatase 1, regulatory subunit 7							105	103	104					2																	242109234		2203	4300	6503	SO:0001583	missense	5510					cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity	g.chr2:242109234C>G	AF067136	CCDS2546.1, CCDS63190.1, CCDS63192.1, CCDS63193.1, CCDS63194.1	2q37.3	2012-04-17	2011-10-04		ENSG00000115685	ENSG00000115685		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9295	protein-coding gene	gene with protein product		602877	"protein phosphatase 1, regulatory (inhibitor) subunit 7"			7498485, 7670491, 10231361	Standard	NM_001282413		Approved	sds22	uc002wat.1	Q15435	OTTHUMG00000133390	ENST00000234038.6:c.858C>G	2.37:g.242109234C>G	ENSP00000234038:p.Ile286Met					PPP1R7_ENST00000407025.1_Missense_Mutation_p.I286M|PPP1R7_ENST00000272983.8_Missense_Mutation_p.I243M	p.I286M	NM_002712.1	NP_002703.1	Q15435	PP1R7_HUMAN		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)	9	1332	+		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	286					B4DFD4|B5MCY6|Q9UQE5|Q9UQE6|Q9Y6K4	Missense_Mutation	SNP	ENST00000234038.6	37	c.858C>G	CCDS2546.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	17.66|17.66|17.66	3.444229|3.444229|3.444229	0.63067|0.63067|0.63067	.|.|.	.|.|.	ENSG00000115685|ENSG00000115685|ENSG00000115685	ENST00000438799;ENST00000423280;ENST00000407025;ENST00000272983;ENST00000234038|ENST00000415769|ENST00000450367	T;T;T;T;T|.|.	0.30981|.|.	1.51;2.0;2.0;2.0;2.0|.|.	5.61|5.61|5.61	-0.118|-0.118|-0.118	0.13547|0.13547|0.13547	.|.|.	0.049336|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.79907|0.79907|.	0.4527|0.4527|.	H|H|H	0.94462|0.94462|0.94462	3.54|3.54|3.54	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D;D|.|.	0.89917|.|.	0.998;1.0;0.996;0.996|.|.	D;D;D;D|.|.	0.78314|.|.	0.927;0.991;0.923;0.945|.|.	T|T|.	0.79881|0.79881|.	-0.1616|-0.1616|.	10|5|.	0.87932|.|.	D|.|.	0|.|.	-22.1766|-22.1766|-22.1766	9.8914|9.8914|9.8914	0.41292|0.41292|0.41292	0.5417:0.3931:0.0:0.0652|0.5417:0.3931:0.0:0.0652|0.5417:0.3931:0.0:0.0652	.|.|.	270;227;243;286|.|.	C9JD73;C9J177;Q15435-2;Q15435|.|.	.;.;.;PP1R7_HUMAN|.|.	M|E|X	270;227;286;243;286|8|261	ENSP00000396376:I270M;ENSP00000412092:I227M;ENSP00000385657:I286M;ENSP00000272983:I243M;ENSP00000234038:I286M|.|.	ENSP00000234038:I286M|.|.	I|Q|S	+|+|+	3|1|2	3|0|0	PPP1R7|PPP1R7|PPP1R7	241757907|241757907|241757907	0.877000|0.877000|0.877000	0.30153|0.30153|0.30153	0.978000|0.978000|0.978000	0.43139|0.43139|0.43139	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	0.030000|0.030000|0.030000	0.13688|0.13688|0.13688	-0.348000|-0.348000|-0.348000	0.08286|0.08286|0.08286	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	ATC|CAA|TCA		0.378	PPP1R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257244.4	NM_002712		5	43	0	0	0	1	0	5	43					G	242109234	C	G	242109234	3	3	160	1	0	0	0	0	1	0	0	0	12376	816	29	4	892	4	PPP1R7	2	242109234	Missense_Mutation	SNP	C	TCGA-DJ-A4V4-01A-11D-A257-08	16746668	242109234	1090139	6	3312											
MTMR12	54545	broad.mit.edu	37	chr5	32274215	32274215	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtactgtgctggcttcacaAagcagctgttcacctggtag	11	10	2	0			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr5:32274215A>G	ENST00000382142.3	-	3	326	c.156T>C	c.(154-156)ctT>ctC	p.L52L	MTMR12_ENST00000264934.5_Silent_p.L52L|MTMR12_ENST00000280285.5_Silent_p.L52L	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	52						cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TGGCTTCACAAAGCAGCTGTT	0.468																																						ENST00000382142.3																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(154-156)ctT>ctC		myotubularin related protein 12							134	121	125					5																	32274215		2203	4300	6503	SO:0001819	synonymous_variant	54545					cytoplasm	phosphatase activity	g.chr5:32274215A>G	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	18191	protein-coding gene	gene with protein product		606501	"phosphatidylinositol-3-phosphate associated protein"	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.156T>C	5.37:g.32274215A>G						MTMR12_ENST00000280285.5_Silent_p.L52L|MTMR12_ENST00000264934.5_Silent_p.L52L	p.L52L	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN			3	326	-			52					Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Silent	SNP	ENST00000382142.3	37	c.156T>C	CCDS34138.1																																																																																				0.468	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061		27	62	0	0	0	1	0	27	62					G	32274215	A	G	32274215	2	3	160	1	0	0	0	0	0	0	0	1	9941	1	1	3		3	MTMR12	5	32274215	Silent	SNP	A	TCGA-DJ-A4V4-01A-11D-A257-08		32274215	148641045	7	3313											
MAP1B	4131	broad.mit.edu	37	chr5	71490881	71490881	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agtcaaaagaagaaacccctGaggtcacaaaagtgaatcac	8	9	3	4			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr5:71490881G>A	ENST00000296755.7	+	5	1997	c.1699G>A	c.(1699-1701)Gag>Aag	p.E567K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	567					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGAAACCCCTGAGGTCACAAA	0.443																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(1699-1701)Gag>Aag		microtubule-associated protein 1B							49	51	50					5																	71490881		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71490881G>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.1699G>A	5.37:g.71490881G>A	ENSP00000296755:p.Glu567Lys						p.E567K	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	1997	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	567					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.1699G>A	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.935126	0.34189	.	.	ENSG00000131711	ENST00000296755;ENST00000511641;ENST00000504492	T;T;T	0.03717	3.83;3.83;3.83	5.63	5.63	0.86233	.	0.483185	0.20482	N	0.091474	T	0.07638	0.0192	L	0.58101	1.795	0.58432	D	0.999998	P;B	0.34562	0.457;0.321	B;B	0.33890	0.172;0.056	T	0.13953	-1.0490	10	0.54805	T	0.06	-0.7519	19.6914	0.96002	0.0:0.0:1.0:0.0	.	441;567	A2BDK6;P46821	.;MAP1B_HUMAN	K	567;584;441	ENSP00000296755:E567K;ENSP00000423444:E584K;ENSP00000423416:E441K	ENSP00000296755:E567K	E	+	1	0	MAP1B	71526637	1.000000	0.71417	0.305000	0.25099	0.050000	0.14768	7.990000	0.88215	2.644000	0.89710	0.563000	0.77884	GAG		0.443	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		3	29	0	0	0	1	0	3	29					A	71490881	G	A	71490881	3	1	160	1	0	0	0	0	1	0	0	0	9228	1291	45	2	1717	2	MAP1B	5	71490881	Missense_Mutation	SNP	G	TCGA-DJ-A4V4-01A-11D-A257-08	39216666	71490881	109424379	8	3314											
SPINK5	11005	broad.mit.edu	37	chr5	147480098	147480098	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acgatcctatccagggcccaGatgggaaagtgcatggcaac	12	11	0	1			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr5:147480098G>C	ENST00000256084.7	+	13	1216	c.1174G>C	c.(1174-1176)Gat>Cat	p.D392H	SPINK5_ENST00000476608.1_3'UTR|SPINK5_ENST00000359874.3_Missense_Mutation_p.D392H|SPINK5_ENST00000398454.1_Missense_Mutation_p.D392H	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	392	Kazal-like 6. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGGCCCAGATGGGAAAGT	0.483																																						ENST00000359874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64						c.(1174-1176)Gat>Cat		serine peptidase inhibitor, Kazal type 5							152	151	151					5																	147480098		1972	4176	6148	SO:0001583	missense	11005				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	g.chr5:147480098G>C	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"Serine peptidase inhibitors, Kazal type"	15464	protein-coding gene	gene with protein product	"lymphoepithelial Kazal-type-related inhibitor"	605010	"serine protease inhibitor, Kazal type 5"			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.1174G>C	5.37:g.147480098G>C	ENSP00000256084:p.Asp392His					SPINK5_ENST00000256084.7_Missense_Mutation_p.D392H|SPINK5_ENST00000476608.1_3'UTR|SPINK5_ENST00000398454.1_Missense_Mutation_p.D392H	p.D392H	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		13	1247	+			392			Kazal-like 6.		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	c.1174G>C	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.146477	0.57044	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	4.69	4.69	0.59074	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.000000	0.38492	N	0.001678	T	0.41834	0.1176	M	0.86343	2.81	0.34331	D	0.687647	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.996;1.0;1.0	T	0.60642	-0.7223	10	0.87932	D	0	-17.1773	13.3235	0.60447	0.0:0.0:1.0:0.0	.	373;392;392;392	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	H	392;392;373;392	ENSP00000381472:D392H;ENSP00000352936:D392H;ENSP00000421519:D373H;ENSP00000256084:D392H	ENSP00000256084:D392H	D	+	1	0	SPINK5	147460291	0.999000	0.42202	0.973000	0.42090	0.494000	0.33585	4.186000	0.58337	2.612000	0.88384	0.591000	0.81541	GAT		0.483	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		7	52	0	0	0	1	0	7	52					C	147480098	G	C	147480098	3	2	160	1	0	0	0	0	1	0	0	0	15061	942	33	4	1224	4	SPINK5	5	147480098	Missense_Mutation	SNP	G	TCGA-DJ-A4V4-01A-11D-A257-08	75989217	147480098	33435162	9	3315											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		17	50	0	0	0	1	0	17	50					T	140453136	A	T	140453136	3	4	160	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A4V4-01A-11D-A257-08		140453136	18685527	10	3316											
PTPRN2	5799	broad.mit.edu	37	chr7	157874039	157874039	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acgttttggacattggcgctCactttgaaggtcactgctgg	12	9	2	1			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr7:157874039C>T	ENST00000389418.4	-	11	1683	c.1674G>A	c.(1672-1674)gtG>gtA	p.V558V	PTPRN2_ENST00000389416.4_Silent_p.V541V|PTPRN2_ENST00000389413.3_Silent_p.V529V|PTPRN2_ENST00000409483.1_Silent_p.V520V|PTPRN2_ENST00000404321.2_Silent_p.V581V	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	558					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CATTGGCGCTCACTTTGAAGG	0.498																																						ENST00000389413.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86						c.(1585-1587)gtG>gtA		protein tyrosine phosphatase, receptor type, N polypeptide 2							307	215	246					7																	157874039		2203	4300	6503	SO:0001819	synonymous_variant	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157874039C>T	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9677	protein-coding gene	gene with protein product	"IAR PTPRP"	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.1674G>A	7.37:g.157874039C>T						PTPRN2_ENST00000404321.2_Silent_p.V581V|PTPRN2_ENST00000389416.4_Silent_p.V541V|PTPRN2_ENST00000389418.4_Silent_p.V558V|PTPRN2_ENST00000409483.1_Silent_p.V520V	p.V529V	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	10	1690	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	558					E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Silent	SNP	ENST00000389418.4	37	c.1587G>A	CCDS5947.1																																																																																				0.498	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			4	54	0	0	0	1	0	4	54					T	157874039	C	T	157874039	2	4	160	1	0	0	0	0	0	0	0	1	12808	813	29	2		2	PTPRN2	7	157874039	Silent	SNP	C	TCGA-DJ-A4V4-01A-11D-A257-08	17420903	157874039	1264624	11	3317											
RABGAP1	23637	broad.mit.edu	37	chr9	125832650	125832650	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttattctgtgtatgatgaaGagattggttattgccagggc	12	5	1	3			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr9:125832650G>A	ENST00000373647.4	+	15	2064	c.1930G>A	c.(1930-1932)Gag>Aag	p.E644K	RABGAP1_ENST00000373643.5_5'UTR|RABGAP1_ENST00000493854.1_3'UTR	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	644	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						GTATGATGAAGAGATTGGTTA	0.438																																						ENST00000373647.4																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(1930-1932)Gag>Aag		RAB GTPase activating protein 1							288	261	270					9																	125832650		2203	4300	6503	SO:0001583	missense	23637				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	g.chr9:125832650G>A	AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"rab6 GTPase activating protein (GAP and centrosome-associated)", "TBC1 domain family, member 11"	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.1930G>A	9.37:g.125832650G>A	ENSP00000362751:p.Glu644Lys					RABGAP1_ENST00000493854.1_3'UTR|RABGAP1_ENST00000373643.5_5'UTR	p.E644K	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN			15	2064	+			644			Rab-GAP TBC.		B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Missense_Mutation	SNP	ENST00000373647.4	37	c.1930G>A	CCDS6848.2	.	.	.	.	.	.	.	.	.	.	G	36	5.780392	0.96929	.	.	ENSG00000011454	ENST00000373647	T	0.04862	3.54	5.61	5.61	0.85477	Rab-GAP/TBC domain (4);	0.000000	0.64402	D	0.000001	T	0.26593	0.0650	M	0.75150	2.29	0.80722	D	1	D	0.63880	0.993	D	0.66497	0.944	T	0.00326	-1.1815	10	0.87932	D	0	-20.0138	19.6408	0.95757	0.0:0.0:1.0:0.0	.	644	Q9Y3P9	RBGP1_HUMAN	K	644	ENSP00000362751:E644K	ENSP00000362751:E644K	E	+	1	0	RABGAP1	124872471	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.476000	0.97823	2.641000	0.89580	0.563000	0.77884	GAG		0.438	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		5	101	0	0	0	1	0	5	101					A	125832650	G	A	125832650	3	1	160	1	0	0	0	0	1	0	0	0	12964	943	33	2	1984	2	RABGAP1	9	125832650	Missense_Mutation	SNP	G	TCGA-DJ-A4V4-01A-11D-A257-08		125832650	15380781	12	3318											
RAPGEF1	2889	broad.mit.edu	37	chr9	134518626	134518626	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagacttcagagccactcacCtgtgctgaattcgaggatcg	10	11	2	3			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr9:134518626C>T	ENST00000372189.3	-	4	566	c.443G>A	c.(442-444)aGc>aAc	p.S148N	RAPGEF1_ENST00000372195.1_Splice_Site_p.S165N|RAPGEF1_ENST00000481260.1_5'UTR|RAPGEF1_ENST00000372190.3_Splice_Site_p.S166N	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	148					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		AGCCACTCACCTGTGCTGAAT	0.507																																						ENST00000372195.1																			0				NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39						c.e4+1		Rap guanine nucleotide exchange factor (GEF) 1							43	42	43					9																	134518626		2018	4182	6200	SO:0001630	splice_region_variant	2889				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr9:134518626C>T	BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.443+1G>A	9.37:g.134518626C>T						RAPGEF1_ENST00000372190.3_Splice_Site_p.S166_splice|RAPGEF1_ENST00000481260.1_5'UTR|RAPGEF1_ENST00000372189.3_Splice_Site_p.S148_splice	p.S165_splice			Q13905	RPGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)	4	737	-		Myeloproliferative disorder(178;0.204)	148					Q5JUE4|Q8IV73	Splice_Site	SNP	ENST00000372189.3	37	c.494_splice	CCDS48047.1	.	.	.	.	.	.	.	.	.	.	C	32	5.114774	0.94339	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000357686;ENST00000438647;ENST00000427994	T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.66665	0.2812	M	0.74881	2.28	0.80722	D	1	D;D;D	0.76494	0.998;0.997;0.999	D;D;D	0.85130	0.993;0.989;0.997	T	0.64529	-0.6386	9	.	.	.	.	19.2284	0.93827	0.0:1.0:0.0:0.0	.	165;148;166	Q68DL3;Q13905;Q13905-3	.;RPGF1_HUMAN;.	N	148;165;42;148;166;128;74;165;127;166	ENSP00000361269:S165N;ENSP00000361263:S148N;ENSP00000361264:S166N;ENSP00000410640:S127N;ENSP00000402174:S166N	.	S	-	2	0	RAPGEF1	133508447	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.379000	0.79691	2.857000	0.98124	0.650000	0.86243	AGC		0.507	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312	Missense_Mutation	5	9	0	0	0	1	0	5	9					T	134518626	C	T	134518626	5	4	160	1	0	0	0	0	0	0	1	0	13043	695	24	2	2874	2	RAPGEF1	9	134518626	Splice_Site	SNP	C	TCGA-DJ-A4V4-01A-11D-A257-08	8685976	134518626	6694805	13	3319											
MYST4	23522	broad.mit.edu	37	chr10	76781017	76781017	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tttctaatgctgcagtgtctGaagaagagcgagaagctgag	13	6	2	5			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr10:76781017G>C	ENST00000287239.4	+	15	3484	c.2995G>C	c.(2995-2997)Gaa>Caa	p.E999Q	RP11-77G23.5_ENST00000436608.1_RNA|KAT6B_ENST00000372711.1_Missense_Mutation_p.E816Q|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000372725.1_Missense_Mutation_p.E707Q|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372724.1_Missense_Mutation_p.E707Q|KAT6B_ENST00000372714.1_Missense_Mutation_p.E707Q	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	999	Catalytic.|Interaction with BRPF1.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TGCAGTGTCTGAAGAAGAGCG	0.398																																						ENST00000287239.4																			0											c.(2995-2997)Gaa>Caa		K(lysine) acetyltransferase 6B							83	81	82					10																	76781017		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76781017G>C	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	17582	protein-coding gene	gene with protein product	"MOZ-related factor"	605880	"MYST histone acetyltransferase (monocytic leukemia) 4"	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.2995G>C	10.37:g.76781017G>C	ENSP00000287239:p.Glu999Gln					KAT6B_ENST00000372711.1_Missense_Mutation_p.E816Q|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372725.1_Missense_Mutation_p.E707Q|KAT6B_ENST00000372724.1_Missense_Mutation_p.E707Q|KAT6B_ENST00000372714.1_Missense_Mutation_p.E707Q	p.E999Q	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			15	3484	+			999			Catalytic.|Interaction with BRPF1.		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.2995G>C	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974246	0.53720	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.78003	-1.13;-1.13;2.0;-1.13;-1.14	6.02	6.02	0.97574	.	0.000000	0.49305	D	0.000144	D	0.86414	0.5927	L	0.54323	1.7	0.58432	D	0.99999	D;D;D	0.89917	0.998;1.0;0.993	D;D;D	0.85130	0.969;0.997;0.968	D	0.86239	0.1642	10	0.66056	D	0.02	-14.7391	18.7001	0.91617	0.0:0.0:1.0:0.0	.	816;707;999	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	Q	707;707;999;707;816	ENSP00000361810:E707Q;ENSP00000361809:E707Q;ENSP00000287239:E999Q;ENSP00000361799:E707Q;ENSP00000361796:E816Q	ENSP00000287239:E999Q	E	+	1	0	KAT6B	76451023	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.197000	0.89727	2.855000	0.98099	0.655000	0.94253	GAA		0.398	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		5	67	0	0	0	1	0	5	67					C	76781017	G	C	76781017	3	2	160	1	0	0	0	0	1	0	0	0	10105	1291	45	4	3045	4	MYST4	10	76781017	Missense_Mutation	SNP	G	TCGA-DJ-A4V4-01A-11D-A257-08		76781017	58753730	14	3320											
CYP17A1	1586	broad.mit.edu	37	chr10	104596873	104596873	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcttaataagcacctccttGgccagctggtggtggccgac	11	12	1	0			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr10:104596873G>T	ENST00000369887.3	-	1	417	c.246C>A	c.(244-246)gcC>gcA	p.A82A	CYP17A1_ENST00000489268.1_5'UTR|CYP17A1-AS1_ENST00000369884.4_RNA	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	82					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|biphenyl metabolic process (GO:0018879)|cellular response to antibiotic (GO:0071236)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to lipopolysaccharide (GO:0071222)|dibenzo-p-dioxin metabolic process (GO:0018894)|glucocorticoid biosynthetic process (GO:0006704)|hippocampus development (GO:0021766)|hormone biosynthetic process (GO:0042446)|Leydig cell differentiation (GO:0033327)|ovulation (GO:0030728)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|progesterone metabolic process (GO:0042448)|response to acetate (GO:0010034)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to insecticide (GO:0017085)|response to ionizing radiation (GO:0010212)|response to methylmercury (GO:0051597)|response to nutrient levels (GO:0031667)|response to retinoic acid (GO:0032526)|response to steroid hormone (GO:0048545)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	axon (GO:0030424)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)	17-alpha-hydroxyprogesterone aldolase activity (GO:0047442)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|steroid 17-alpha-monooxygenase activity (GO:0004508)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	Abiraterone(DB05812)|Aminophenazone(DB01424)|Dexamethasone(DB01234)|Metoclopramide(DB01233)|Progesterone(DB00396)	GCACCTCCTTGGCCAGCTGGT	0.532																																						ENST00000369887.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18						c.(244-246)gcC>gcA		cytochrome P450, family 17, subfamily A, polypeptide 1	NADH(DB00157)|Progesterone(DB00396)						107	91	96					10																	104596873		2203	4300	6503	SO:0001819	synonymous_variant	1586				androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity	g.chr10:104596873G>T	M19489	CCDS7541.1	10q24.3	2010-05-04	2003-02-14	2003-02-28	ENSG00000148795	ENSG00000148795	1.14.99.9	"Cytochrome P450s"	2593	protein-coding gene	gene with protein product	"Steroid 17-alpha-monooxygenase"	609300	"cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia"	CYP17		1347802	Standard	NM_000102		Approved	P450C17, CPT7, S17AH	uc001kwg.3	P05093	OTTHUMG00000018969	ENST00000369887.3:c.246C>A	10.37:g.104596873G>T						CYP17A1_ENST00000489268.1_5'UTR	p.A82A	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	1	417	-		Colorectal(252;0.122)|all_hematologic(284;0.152)	82					Q5TZV7	Silent	SNP	ENST00000369887.3	37	c.246C>A	CCDS7541.1																																																																																				0.532	CYP17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050101.1	NM_000102		23	59	1	0	2.89027e-11	1	3.37198e-11	23	59					T	104596873	G	T	104596873	2	4	160	1	0	0	0	0	0	0	0	1	4147	1335	47	4		4	CYP17A1	10	104596873	Silent	SNP	G	TCGA-DJ-A4V4-01A-11D-A257-08	27815856	104596873	30937874	15	3321											
DSCAML1	57453	broad.mit.edu	37	chr11	117314617	117314617	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctcacccttgccagcaggctCgatggtcaccttctcgctgc	9	17	3	0			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr11:117314617C>A	ENST00000321322.6	-	21	4028	c.4027G>T	c.(4027-4029)Gag>Tag	p.E1343*	DSCAML1_ENST00000527706.1_Nonsense_Mutation_p.E1073*	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1283	Ig-like C2-type 10.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCAGCAGGCTCGATGGTCACC	0.617																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(4027-4029)Gag>Tag		Down syndrome cell adhesion molecule like 1							47	47	47					11																	117314617		2201	4296	6497	SO:0001587	stop_gained	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117314617C>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.4027G>T	11.37:g.117314617C>A	ENSP00000315465:p.Glu1343*					DSCAML1_ENST00000527706.1_Nonsense_Mutation_p.E1073*	p.E1343*	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	21	4028	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1283			Ig-like C2-type 10.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Nonsense_Mutation	SNP	ENST00000321322.6	37	c.4027G>T	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	42	9.358985	0.99148	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	.	.	.	4.59	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	17.5974	0.88016	0.0:1.0:0.0:0.0	.	.	.	.	X	1073;1343;1050	.	ENSP00000315465:E1343X	E	-	1	0	DSCAML1	116819827	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.582000	0.82546	2.365000	0.80145	0.313000	0.20887	GAG		0.617	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		6	35	1	0	5.18039e-06	1	5.57888e-06	6	35					A	117314617	C	A	117314617	4	1	160	1	0	0	0	0	0	1	0	0	4769	893	31	4	2366	4	DSCAML1	11	117314617	Nonsense_Mutation	SNP	C	TCGA-DJ-A4V4-01A-11D-A257-08		117314617	17691899	16	3322											
HELB	92797	broad.mit.edu	37	chr12	66703764	66703764	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tatgagaagtcctgtgtcttCccttatgacctttaccatgc	7	11	1	2			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr12:66703764C>A	ENST00000247815.4	+	4	1115	c.1056C>A	c.(1054-1056)ttC>ttA	p.F352L		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	352					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		CCTGTGTCTTCCCTTATGACC	0.413																																						ENST00000247815.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40						c.(1054-1056)ttC>ttA		helicase (DNA) B							236	228	231					12																	66703764		2203	4300	6503	SO:0001583	missense	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66703764C>A	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.1056C>A	12.37:g.66703764C>A	ENSP00000247815:p.Phe352Leu						p.F352L	NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	4	1115	+			352					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	c.1056C>A	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727270	0.48833	.	.	ENSG00000127311	ENST00000247815	T	0.53857	0.6	6.17	3.8	0.43715	.	0.247838	0.42964	D	0.000640	T	0.57592	0.2064	M	0.68952	2.095	0.32625	N	0.522792	D	0.56521	0.976	P	0.52343	0.696	T	0.67814	-0.5573	9	.	.	.	-32.2118	8.0739	0.30706	0.0:0.1828:0.0:0.8172	.	352	Q8NG08	HELB_HUMAN	L	352	ENSP00000247815:F352L	.	F	+	3	2	HELB	64990031	0.999000	0.42202	0.992000	0.48379	0.038000	0.13279	0.986000	0.29590	1.132000	0.42129	0.655000	0.94253	TTC		0.413	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			21	219	1	0	4.96729e-08	1	5.63855e-08	21	219					A	66703764	C	A	66703764	3	1	160	1	0	0	0	0	1	0	0	0	7045	854	30	4	1070	4	HELB	12	66703764	Missense_Mutation	SNP	C	TCGA-DJ-A4V4-01A-11D-A257-08		66703764	67148131	17	3323											
PLXNC1	10154	broad.mit.edu	37	chr12	94580161	94580161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccttttaggtgaggagaattCgtgttgcaaactgcaataaa	10	6	0	2			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr12:94580161C>T	ENST00000258526.4	+	4	1600	c.1351C>T	c.(1351-1353)Cgt>Tgt	p.R451C	RP11-74K11.2_ENST00000550759.1_RNA	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	451	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GAGGAGAATTCGTGTTGCAAA	0.423																																						ENST00000258526.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(1351-1353)Cgt>Tgt		plexin C1							127	113	117					12																	94580161		2203	4300	6503	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94580161C>T	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"CD molecules", "Plexins"	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.1351C>T	12.37:g.94580161C>T	ENSP00000258526:p.Arg451Cys						p.R451C	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN			4	1600	+			451			Sema.		Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.1351C>T	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.528525	0.44969	.	.	ENSG00000136040	ENST00000258526;ENST00000551850	T;T	0.04706	3.57;3.57	5.51	4.59	0.56863	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	1.054650	0.07232	N	0.862770	T	0.05547	0.0146	L	0.44542	1.39	0.42923	D	0.994291	P	0.50943	0.94	B	0.36335	0.222	T	0.41875	-0.9484	10	0.49607	T	0.09	.	8.9885	0.36008	0.1681:0.6695:0.1624:0.0	.	451	O60486	PLXC1_HUMAN	C	451;67	ENSP00000258526:R451C;ENSP00000447843:R67C	ENSP00000258526:R451C	R	+	1	0	PLXNC1	93104292	0.910000	0.30920	0.973000	0.42090	0.993000	0.82548	1.974000	0.40559	1.267000	0.44247	0.561000	0.74099	CGT		0.423	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			4	40	0	0	0	1	0	4	40					T	94580161	C	T	94580161	3	4	160	1	0	0	0	0	1	0	0	0	12126	884	31	1	1365	1	PLXNC1	12	94580161	Missense_Mutation	SNP	C	TCGA-DJ-A4V4-01A-11D-A257-08	27876397	94580161	39271734	18	3324											
TP53BP1	7158	broad.mit.edu	37	chr15	43738724	43738724	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccaagtatgggatcatgggtCtccaccatgctttcagacat	9	11	3	1			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr15:43738724C>T	ENST00000263801.3	-	14	3138	c.2886G>A	c.(2884-2886)gaG>gaA	p.E962E	TP53BP1_ENST00000450115.2_Silent_p.E967E|TP53BP1_ENST00000382044.4_Silent_p.E967E|TP53BP1_ENST00000382039.3_Silent_p.E967E|TP53BP1_ENST00000605155.1_5'Flank	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	962					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|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)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GATCATGGGTCTCCACCATGC	0.453								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(2884-2886)gaG>gaA	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							114	112	113					15																	43738724		2201	4298	6499	SO:0001819	synonymous_variant	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43738724C>T	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.2886G>A	15.37:g.43738724C>T						TP53BP1_ENST00000450115.2_Silent_p.E967E|TP53BP1_ENST00000382044.4_Silent_p.E967E|TP53BP1_ENST00000382039.3_Silent_p.E967E	p.E962E	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	14	3138	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	962					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Silent	SNP	ENST00000263801.3	37	c.2886G>A	CCDS10096.1																																																																																				0.453	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			7	86	0	0	0	1	0	7	86					T	43738724	C	T	43738724	2	4	160	1	0	0	0	0	0	0	0	1	16380	912	32	2		2	TP53BP1	15	43738724	Silent	SNP	C	TCGA-DJ-A4V4-01A-11D-A257-08		43738724	58792668	19	3325											
ABAT	18	broad.mit.edu	37	chr16	8875180	8875180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcaggtgtggtgttgggtGgctgtggtgacaaatccatt	15	5	1	1			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr16:8875180G>A	ENST00000396600.2	+	16	2334	c.1396G>A	c.(1396-1398)Ggc>Agc	p.G466S	ABAT_ENST00000425191.2_Missense_Mutation_p.G466S|ABAT_ENST00000268251.8_Missense_Mutation_p.G466S|ABAT_ENST00000567812.1_Missense_Mutation_p.G481S|ABAT_ENST00000569156.1_Silent_p.V485V|TMEM186_ENST00000564869.1_5'UTR	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	466					behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	GGTGTTGGGTGGCTGTGGTGA	0.527																																						ENST00000396600.2																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26						c.(1396-1398)Ggc>Agc		4-aminobutyrate aminotransferase	Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)						208	163	178					16																	8875180		2197	4300	6497	SO:0001583	missense	18				behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding	g.chr16:8875180G>A	L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"4-aminobutyrate transaminase"	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.1396G>A	16.37:g.8875180G>A	ENSP00000379845:p.Gly466Ser					ABAT_ENST00000268251.8_Missense_Mutation_p.G466S|ABAT_ENST00000569156.1_Silent_p.V485V|ABAT_ENST00000567812.1_Missense_Mutation_p.G481S|TMEM186_ENST00000564869.1_5'UTR|ABAT_ENST00000425191.2_Missense_Mutation_p.G466S	p.G466S	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN			16	2334	+			466					A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Missense_Mutation	SNP	ENST00000396600.2	37	c.1396G>A	CCDS10534.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309852	0.81247	.	.	ENSG00000183044	ENST00000268251;ENST00000396600;ENST00000425191	T;T;T	0.75821	-0.97;-0.97;-0.97	5.12	5.12	0.69794	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.119578	0.56097	D	0.000031	T	0.74061	0.3667	L	0.49778	1.585	0.80722	D	1	P	0.42871	0.792	B	0.43838	0.433	T	0.76716	-0.2857	10	0.52906	T	0.07	-2.5373	17.5535	0.87884	0.0:0.0:1.0:0.0	.	466	P80404	GABT_HUMAN	S	466	ENSP00000268251:G466S;ENSP00000379845:G466S;ENSP00000411916:G466S	ENSP00000268251:G466S	G	+	1	0	ABAT	8782681	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.707000	0.84623	2.375000	0.81037	0.549000	0.68633	GGC		0.527	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433620.2	NM_020686		6	84	0	0	0	1	0	6	84					A	8875180	G	A	8875180	3	1	160	1	0	0	0	0	1	0	0	0	27	1348	47	2	1454	2	ABAT	16	8875180	Missense_Mutation	SNP	G	TCGA-DJ-A4V4-01A-11D-A257-08		8875180	81479573	20	3326											
ABR	29	broad.mit.edu	37	chr17	914042	914042	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agttcccggaagtacagcttGagcgtcccggcgatggcgtt	14	11	0	1	rs200483424		TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr17:914042G>C	ENST00000302538.5	-	20	2309	c.2163C>G	c.(2161-2163)ctC>ctG	p.L721L	ABR_ENST00000574437.1_Silent_p.L675L|ABR_ENST00000544583.2_Silent_p.L675L|ABR_ENST00000291107.2_Silent_p.L684L|ABR_ENST00000572441.1_Intron|ABR_ENST00000543210.2_Silent_p.L172L|ABR_ENST00000536794.2_Silent_p.L503L	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	721	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		AGTACAGCTTGAGCGTCCCGG	0.627																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	ENST00000544583.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(2023-2025)ctC>ctG		active BCR-related							121	103	109					17																	914042		2203	4300	6503	SO:0001819	synonymous_variant	29				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr17:914042G>C	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	81	protein-coding gene	gene with protein product		600365	"active BCR-related gene"			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.2163C>G	17.37:g.914042G>C						ABR_ENST00000574437.1_Silent_p.L675L|ABR_ENST00000302538.5_Silent_p.L721L|ABR_ENST00000543210.2_Silent_p.L172L|ABR_ENST00000536794.2_Silent_p.L503L|ABR_ENST00000572441.1_Intron|ABR_ENST00000291107.2_Silent_p.L684L	p.L675L	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	20	2624	-			721			Rho-GAP.		B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Silent	SNP	ENST00000302538.5	37	c.2025C>G	CCDS10999.1																																																																																				0.627	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			9	87	0	0	0	1	0	9	87					C	914042	G	C	914042	2	2	160	1	0	0	0	0	0	0	0	1	99	1277	45	4		4	ABR	17	914042	Silent	SNP	G	TCGA-DJ-A4V4-01A-11D-A257-08		914042	80281168	21	3327											
RTN4RL1	146760	broad.mit.edu	37	chr17	1840784	1840784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccagcgtccgcagctgcCggttgtcgccgaggtccagc	15	15	0	0	rs11652394	byFrequency	TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr17:1840784C>T	ENST00000331238.6	-	2	811	c.332G>A	c.(331-333)cGg>cAg	p.R111Q		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1											breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						CCGCAGCTGCCGGTTGTCGCC	0.637													C|||	3	0.000599042	0	0	5008	,	,		17475	0		0.001	False		,,,				2504	0.002				GBM(68;949 1139 14865 32798 38342)	ENST00000331238.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						c.(331-333)cGg>cAg		reticulon 4 receptor-like 1							52	58	56					17																	1840784		2200	4299	6499	SO:0001583	missense	146760				axon regeneration	anchored to plasma membrane	receptor activity	g.chr17:1840784C>T	AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"nogo-66 receptor homolog 2"	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.332G>A	17.37:g.1840784C>T	ENSP00000330631:p.Arg111Gln						p.R111Q	NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN			2	350	-			111						Missense_Mutation	SNP	ENST00000331238.6	37	c.332G>A	CCDS45569.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351742	0.61183	.	.	ENSG00000185924	ENST00000331238	T	0.02395	4.31	5.72	4.76	0.60689	.	0.000000	0.36200	N	0.002735	T	0.04182	0.0116	N	0.17901	0.54	0.50039	D	0.999846	P	0.47910	0.902	P	0.48552	0.581	T	0.57608	-0.7782	10	0.46703	T	0.11	.	14.5277	0.67900	0.0:0.9299:0.0:0.0701	rs11652394	111	Q86UN2	R4RL1_HUMAN	Q	111	ENSP00000330631:R111Q	ENSP00000330631:R111Q	R	-	2	0	RTN4RL1	1787534	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.813000	0.62620	1.437000	0.47472	0.644000	0.83932	CGG		0.637	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450155.2	NM_178568		4	40	0	0	0	1	0	4	40					T	1840784	C	T	1840784	3	4	160	1	0	0	0	0	1	0	0	0	13731	652	23	1	997	1	RTN4RL1	17	1840784	Missense_Mutation	SNP	C	TCGA-DJ-A4V4-01A-11D-A257-08	926742	1840784	79354426	22	3328											
SLC35B1	10237	broad.mit.edu	37	chr17	47783622	47783622	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gctggagaccatggcacccaGataggagatagaacaggcag	14	9	0	4			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr17:47783622G>C	ENST00000240333.6	-	3	404	c.283C>G	c.(283-285)Ctg>Gtg	p.L95V	SLC35B1_ENST00000415270.2_Missense_Mutation_p.L132V|RP11-613C6.2_ENST00000512720.1_RNA			P78383	S35B1_HUMAN	solute carrier family 35, member B1	95					transport (GO:0006810)|UDP-galactose transmembrane transport (GO:0072334)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	UDP-galactose transmembrane transporter activity (GO:0005459)			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						ATGGCACCCAGATAGGAGATA	0.473																																						ENST00000240333.6																			0				endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						c.(283-285)Ctg>Gtg		solute carrier family 35, member B1							64	59	61					17																	47783622		2203	4300	6503	SO:0001583	missense	10237					endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity	g.chr17:47783622G>C	D16978	CCDS11552.1, CCDS11552.2	17q21.32	2013-05-22			ENSG00000121073	ENSG00000121073		"Solute carriers"	20798	protein-coding gene	gene with protein product		610790				9010752	Standard	NM_005827		Approved	UGTREL1	uc002iph.1	P78383	OTTHUMG00000161638	ENST00000240333.6:c.283C>G	17.37:g.47783622G>C	ENSP00000240333:p.Leu95Val					SLC35B1_ENST00000415270.2_Missense_Mutation_p.L132V	p.L95V			P78383	S35B1_HUMAN			3	404	-			95					B4DEC4|J3KQV4|Q96EW7	Missense_Mutation	SNP	ENST00000240333.6	37	c.283C>G	CCDS11552.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.33|15.33	2.801528|2.801528	0.50315|0.50315	.|.	.|.	ENSG00000121073|ENSG00000121073	ENST00000376622|ENST00000240333;ENST00000415270;ENST00000503334;ENST00000508520;ENST00000435059;ENST00000514907;ENST00000515850;ENST00000511763;ENST00000511657	.|T;T;T;T;T;T;T;T	.|0.30714	.|1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52	4.77|4.77	2.73|2.73	0.32206|0.32206	.|.	.|0.148789	.|0.46442	.|N	.|0.000281	T|T	0.29288|0.29288	0.0729|0.0729	N|N	0.21448|0.21448	0.665|0.665	0.58432|0.58432	D|D	0.999999|0.999999	.|P;B;B	.|0.46064	.|0.872;0.232;0.232	.|P;B;B	.|0.54706	.|0.759;0.264;0.104	T|T	0.02081|0.02081	-1.1217|-1.1217	6|10	0.66056|0.20519	D|T	0.02|0.43	-5.806|-5.806	9.6197|9.6197	0.39714|0.39714	0.0796:0.1473:0.7731:0.0|0.0796:0.1473:0.7731:0.0	.|.	.|95;28;95	.|B4DJG9;D3DTX1;P78383	.|.;.;S35B1_HUMAN	M|V	115|95;132;28;98;95;64;129;52;28	.|ENSP00000240333:L95V;ENSP00000409548:L132V;ENSP00000423323:L28V;ENSP00000424367:L98V;ENSP00000426961:L64V;ENSP00000427689:L129V;ENSP00000422104:L52V;ENSP00000426402:L28V	ENSP00000365809:I115M|ENSP00000240333:L95V	I|L	-|-	3|1	3|2	SLC35B1|SLC35B1	45138621|45138621	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.977000|0.977000	0.68977|0.68977	3.712000|3.712000	0.54875|0.54875	0.577000|0.577000	0.29470|0.29470	0.655000|0.655000	0.94253|0.94253	ATC|CTG		0.473	SLC35B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365564.2	NM_005827		6	23	0	0	0	1	0	6	23					C	47783622	G	C	47783622	3	2	160	1	0	0	0	0	1	0	0	0	14575	933	33	4	713	4	SLC35B1	17	47783622	Missense_Mutation	SNP	G	TCGA-DJ-A4V4-01A-11D-A257-08	45942838	47783622	33411588	23	3329											
ASPDH	554235	broad.mit.edu	37	chr19	51015780	51015780	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagggctgtgggctgcagCcaggggtccctcaagccgga	16	14	1	0			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr19:51015780C>T	ENST00000389208.4	-	5	551	c.490G>A	c.(490-492)Gct>Act	p.A164T	ASPDH_ENST00000597030.1_5'UTR|JOSD2_ENST00000598418.1_5'Flank|JOSD2_ENST00000391815.3_5'Flank|JOSD2_ENST00000595669.1_5'Flank|JOSD2_ENST00000601423.1_5'Flank|ASPDH_ENST00000376916.3_Missense_Mutation_p.A59T	NM_001114598.1	NP_001108070.1	A6ND91	ASPD_HUMAN	aspartate dehydrogenase domain containing	164					NAD biosynthetic process (GO:0009435)|NADP catabolic process (GO:0006742)		aspartate dehydrogenase activity (GO:0033735)|NADP binding (GO:0050661)			endometrium(1)|large_intestine(1)|lung(1)	3						TGGGCTGCAGCCAGGGGTCCC	0.657																																						ENST00000389208.4																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(490-492)Gct>Act		aspartate dehydrogenase domain containing							16	22	20					19																	51015780		2202	4299	6501	SO:0001583	missense	554235				NAD biosynthetic process|NADP catabolic process		aspartate dehydrogenase activity|NADP binding	g.chr19:51015780C>T		CCDS33082.1, CCDS46153.1	19q13.33	2012-10-02			ENSG00000204653	ENSG00000204653			33856	protein-coding gene	gene with protein product							Standard	NM_001024656		Approved		uc010enz.3	A6ND91		ENST00000389208.4:c.490G>A	19.37:g.51015780C>T	ENSP00000373860:p.Ala164Thr					ASPDH_ENST00000597030.1_5'UTR|ASPDH_ENST00000376916.3_Missense_Mutation_p.A59T	p.A164T	NM_001114598.1	NP_001108070.1	A6ND91	ASPD_HUMAN			5	551	-			164					Q6NZ37	Missense_Mutation	SNP	ENST00000389208.4	37	c.490G>A	CCDS46153.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570283	0.28003	.	.	ENSG00000204653	ENST00000376916;ENST00000389208	T;T	0.44482	0.92;0.93	3.9	3.9	0.45041	.	0.183389	0.36134	N	0.002765	T	0.29945	0.0749	L	0.40543	1.245	0.30934	N	0.726593	P;B	0.37466	0.596;0.106	B;B	0.35353	0.201;0.069	T	0.20107	-1.0285	10	0.13108	T	0.6	-8.538	11.763	0.51914	0.0:1.0:0.0:0.0	.	164;59	A6ND91;A6ND91-2	ASPD_HUMAN;.	T	59;164	ENSP00000366114:A59T;ENSP00000373860:A164T	ENSP00000366114:A59T	A	-	1	0	ASPDH	55707592	0.467000	0.25831	0.993000	0.49108	0.973000	0.67179	1.444000	0.35068	1.908000	0.55244	0.561000	0.74099	GCT		0.657	ASPDH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464861.1	NM_001024656		3	12	0	0	0	1	0	3	12					T	51015780	C	T	51015780	3	4	160	1	0	0	0	0	1	0	0	0	1051	739	26	2	373	2	ASPDH	19	51015780	Missense_Mutation	SNP	C	TCGA-DJ-A4V4-01A-11D-A257-08		51015780	8113203	24	3330											
AJAP1	55966	broad.mit.edu	37	chr1	4832438	4832438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggacttcccctcggcccGggtgcccagcagcctggaca	12	18	0	0	rs566504703		TCGA-DJ-A4V5-01A-11D-A257-08	TCGA-DJ-A4V5-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	303e4531-b4c2-4f91-84ba-6246bd119c87	a9b59b90-c24f-48a9-b818-31a9eb1e2d87	g.chr1:4832438G>A	ENST00000378191.4	+	4	1397	c.1016G>A	c.(1015-1017)cGg>cAg	p.R339Q	AJAP1_ENST00000378190.3_Missense_Mutation_p.R339Q	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	339	Targeting signals.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CCCTCGGCCCGGGTGCCCAGC	0.617													G|||	1	0.000199681	0	0.0014	5008	,	,		14846	0		0	False		,,,				2504	0					ENST00000378191.4																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.(1015-1017)cGg>cAg		adherens junctions associated protein 1							77	64	69					1																	4832438		2203	4300	6503	SO:0001583	missense	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4832438G>A	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"transmembrane protein SHREW1"	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.1016G>A	1.37:g.4832438G>A	ENSP00000367433:p.Arg339Gln					AJAP1_ENST00000378190.3_Missense_Mutation_p.R339Q	p.R339Q	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	4	1397	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	339			Targeting signals.		Q9Y229	Missense_Mutation	SNP	ENST00000378191.4	37	c.1016G>A	CCDS54.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230825	0.79688	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.48836	0.8;0.8	5.12	5.12	0.69794	.	0.119960	0.56097	D	0.000025	T	0.51227	0.1662	N	0.12182	0.205	0.48830	D	0.999711	D	0.89917	1.0	D	0.69307	0.963	T	0.59516	-0.7440	10	0.56958	D	0.05	-28.4723	17.1126	0.86680	0.0:0.0:1.0:0.0	.	339	Q9UKB5	AJAP1_HUMAN	Q	339	ENSP00000367432:R339Q;ENSP00000367433:R339Q	ENSP00000367432:R339Q	R	+	2	0	AJAP1	4732298	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.354000	0.79424	2.380000	0.81148	0.561000	0.74099	CGG		0.617	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		4	43	0	0	0	1	0	4	43					A	4832438	G	A	4832438	3	1	161	1	0	0	0	0	1	0	0	0	438	1116	39	1	1030	1	AJAP1	1	4832438	Missense_Mutation	SNP	G	TCGA-DJ-A4V5-01A-11D-A257-08		4832438	244418183	1	3331											
KIAA1530	57654	broad.mit.edu	37	chr4	1374010	1374010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctctgtgagcgccaagacCggctgaaggtgaggccgtgg	18	10	1	4			TCGA-DJ-A4V5-01A-11D-A257-08	TCGA-DJ-A4V5-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	303e4531-b4c2-4f91-84ba-6246bd119c87	a9b59b90-c24f-48a9-b818-31a9eb1e2d87	g.chr4:1374010C>T	ENST00000389851.4	+	11	2191	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	UVSSA_ENST00000511563.1_Missense_Mutation_p.R133W|UVSSA_ENST00000511216.1_Missense_Mutation_p.R582W|UVSSA_ENST00000507531.1_Missense_Mutation_p.R582W|UVSSA_ENST00000512728.1_Missense_Mutation_p.R133W	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	582					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										GCGCCAAGACCGGCTGAAGGT	0.716																																						ENST00000389851.4																			0											c.(1744-1746)Cgg>Tgg		UV-stimulated scaffold protein A							27	29	28					4																	1374010		2199	4298	6497	SO:0001583	missense	57654							g.chr4:1374010C>T	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"KIAA1530"	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.1744C>T	4.37:g.1374010C>T	ENSP00000374501:p.Arg582Trp					UVSSA_ENST00000511563.1_Missense_Mutation_p.R133W|UVSSA_ENST00000507531.1_Missense_Mutation_p.R582W|UVSSA_ENST00000511216.1_Missense_Mutation_p.R582W|UVSSA_ENST00000512728.1_Missense_Mutation_p.R133W	p.R582W	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN			11	2191	+			582					A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Missense_Mutation	SNP	ENST00000389851.4	37	c.1744C>T	CCDS33938.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996758	0.54147	.	.	ENSG00000163945	ENST00000296312;ENST00000511216;ENST00000389851;ENST00000507531;ENST00000511563;ENST00000512728	T;T;T;T;T	0.50813	1.23;1.23;1.23;0.73;0.73	4.87	3.96	0.45880	.	0.000000	0.85682	D	0.000000	T	0.68705	0.3030	M	0.84219	2.685	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	T	0.73892	-0.3839	10	0.87932	D	0	.	12.0139	0.53303	0.3757:0.6243:0.0:0.0	.	582	Q2YD98	K1530_HUMAN	W	133;582;582;582;133;133	ENSP00000425130:R582W;ENSP00000374501:R582W;ENSP00000421741:R582W;ENSP00000423340:R133W;ENSP00000427701:R133W	ENSP00000296312:R133W	R	+	1	2	KIAA1530	1364010	1.000000	0.71417	1.000000	0.80357	0.396000	0.30629	1.178000	0.31981	2.238000	0.73509	0.561000	0.74099	CGG		0.716	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		3	23	0	0	0	1	0	3	23					T	1374010	C	T	1374010	3	4	161	1	0	0	0	0	1	0	0	0	8241	643	23	1	1782	1	KIAA1530	4	1374010	Missense_Mutation	SNP	C	TCGA-DJ-A4V5-01A-11D-A257-08		1374010	189780266	2	3332											
WDR11	55717	broad.mit.edu	37	chr10	122612090	122612090	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacttgtggtagtgattgaTtccattactgcccaaactct	7	10	2	2			TCGA-DJ-A4V5-01A-11D-A257-08	TCGA-DJ-A4V5-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	303e4531-b4c2-4f91-84ba-6246bd119c87	a9b59b90-c24f-48a9-b818-31a9eb1e2d87	g.chr10:122612090T>G	ENST00000263461.6	+	2	387	c.141T>G	c.(139-141)gaT>gaG	p.D47E	WDR11-AS1_ENST00000598981.1_RNA	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	452					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TAGTGATTGATTCCATTACTG	0.368																																						ENST00000263461.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						c.(139-141)gaT>gaG		WD repeat domain 11							172	159	163					10																	122612090		2203	4300	6503	SO:0001583	missense	55717					integral to membrane		g.chr10:122612090T>G	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"WD repeat domain containing"	13831	protein-coding gene	gene with protein product		606417	"bromodomain and WD repeat domain containing 2"	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.141T>G	10.37:g.122612090T>G	ENSP00000263461:p.Asp47Glu						p.D47E	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN			2	387	+			47					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	37	c.141T>G	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.575395	0.86645	.	.	ENSG00000120008	ENST00000263461	T	0.37752	1.18	5.77	5.77	0.91146	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.55130	0.1901	M	0.64170	1.965	0.58432	D	0.999996	D	0.58970	0.984	D	0.70016	0.967	T	0.56044	-0.8044	10	0.52906	T	0.07	-29.8477	11.97	0.53058	0.0:0.0694:0.0:0.9306	.	47	Q9BZH6	WDR11_HUMAN	E	47	ENSP00000263461:D47E	ENSP00000263461:D47E	D	+	3	2	WDR11	122602080	1.000000	0.71417	0.998000	0.56505	0.903000	0.53119	5.320000	0.65841	2.191000	0.70037	0.528000	0.53228	GAT		0.368	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			15	22	0	0	0	1	0	15	22					G	122612090	T	G	122612090	3	3	161	1	0	0	0	0	1	0	0	0	17270	1490	52	5	147	5	WDR11	10	122612090	Missense_Mutation	SNP	T	TCGA-DJ-A4V5-01A-11D-A257-08		122612090	12922657	3	3333											
POU2F3	25833	broad.mit.edu	37	chr11	120169033	120169033	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctcccatcggccatgccaCctgagtcaaggacctgccat	8	17	2	1			TCGA-DJ-A4V5-01A-11D-A257-08	TCGA-DJ-A4V5-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	303e4531-b4c2-4f91-84ba-6246bd119c87	a9b59b90-c24f-48a9-b818-31a9eb1e2d87	g.chr11:120169033C>T	ENST00000543440.2	+	4	342	c.192C>T	c.(190-192)caC>caT	p.H64H	POU2F3_ENST00000260264.4_Silent_p.H66H	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	64					epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		GGCCATGCCACCTGAGTCAAG	0.537																																						ENST00000260264.4																			0				large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17						c.(196-198)caC>caT		POU class 2 homeobox 3							162	157	159					11																	120169033		2203	4300	6503	SO:0001819	synonymous_variant	25833				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding	g.chr11:120169033C>T	AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"Homeoboxes / POU class"	19864	protein-coding gene	gene with protein product		607394	"POU domain class 2, transcription factor 3"			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.192C>T	11.37:g.120169033C>T						POU2F3_ENST00000543440.2_Silent_p.H64H	p.H66H	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)	4	232	+		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)	64					A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Silent	SNP	ENST00000543440.2	37	c.198C>T	CCDS8431.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.801285	0.31869	.	.	ENSG00000137709	ENST00000533620	D	0.84070	-1.8	4.3	3.38	0.38709	.	.	.	.	.	T	0.77280	0.4107	.	.	.	0.80722	D	1	B	0.12013	0.005	B	0.08055	0.003	T	0.74526	-0.3636	8	0.87932	D	0	.	11.2422	0.48977	0.0:0.9104:0.0:0.0896	.	3	E9PIN6	.	S	3	ENSP00000435738:P3S	ENSP00000435738:P3S	P	+	1	0	POU2F3	119674243	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.653000	0.61462	1.022000	0.39626	-0.251000	0.11542	CCT		0.537	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388039.2			61	151	0	0	0	1	0	61	151					T	120169033	C	T	120169033	2	4	161	1	0	0	0	0	0	0	0	1	12273	506	18	2		2	POU2F3	11	120169033	Silent	SNP	C	TCGA-DJ-A4V5-01A-11D-A257-08		120169033	14837483	4	3334											
DPP8	54878	broad.mit.edu	37	chr15	65743407	65743407	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtatgtgcaaaatggacaTtctcatccaggaaaccatgt	9	8	1	0	rs201715249		TCGA-DJ-A4V5-01A-11D-A257-08	TCGA-DJ-A4V5-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	303e4531-b4c2-4f91-84ba-6246bd119c87	a9b59b90-c24f-48a9-b818-31a9eb1e2d87	g.chr15:65743407T>G	ENST00000341861.5	-	19	4084	c.2504A>C	c.(2503-2505)aAt>aCt	p.N835T	DPP8_ENST00000560048.2_5'UTR|DPP8_ENST00000339244.5_Missense_Mutation_p.N662T|DPP8_ENST00000321147.6_Missense_Mutation_p.N784T|DPP8_ENST00000358939.4_Missense_Mutation_p.N719T|DPP8_ENST00000321118.7_Missense_Mutation_p.N786T|DPP8_ENST00000559233.1_Missense_Mutation_p.N835T|DPP8_ENST00000300141.6_Missense_Mutation_p.N819T	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	835					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AAAATGGACATTCTCATCCAG	0.358																																						ENST00000341861.5																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2503-2505)aAt>aCt		dipeptidyl-peptidase 8							135	145	141					15																	65743407		2201	4299	6500	SO:0001583	missense	54878				immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr15:65743407T>G	AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"dipeptidyl peptidase VIII", "dipeptidyl peptidase IV-related protein-1", "prolyl dipeptidase DPP8"	606819	"dipeptidylpeptidase 8"			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.2504A>C	15.37:g.65743407T>G	ENSP00000339208:p.Asn835Thr					DPP8_ENST00000339244.5_Missense_Mutation_p.N662T|DPP8_ENST00000321118.7_Missense_Mutation_p.N786T|DPP8_ENST00000321147.6_Missense_Mutation_p.N784T|DPP8_ENST00000300141.6_Missense_Mutation_p.N819T|DPP8_ENST00000358939.4_Missense_Mutation_p.N719T|DPP8_ENST00000559233.1_Missense_Mutation_p.N835T|DPP8_ENST00000560048.2_5'UTR	p.N835T	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN			19	4084	-			835					Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	ENST00000341861.5	37	c.2504A>C	CCDS10207.1	.	.	.	.	.	.	.	.	.	.	T	18.90	3.722331	0.68959	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000339244	T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39	5.31	5.31	0.75309	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66036	0.2749	M	0.89163	3.01	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;0.996;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.987;1.0;1.0	T	0.73751	-0.3884	10	0.87932	D	0	-23.307	14.4796	0.67573	0.0:0.0:0.0:1.0	.	786;819;719;784;835	Q6V1X1-5;Q6V1X1-3;Q6V1X1-4;Q6V1X1-2;Q6V1X1	.;.;.;.;DPP8_HUMAN	T	835;719;819;784;786;662	ENSP00000339208:N835T;ENSP00000351817:N719T;ENSP00000300141:N819T;ENSP00000318111:N784T;ENSP00000316373:N786T;ENSP00000341230:N662T	ENSP00000300141:N819T	N	-	2	0	DPP8	63530460	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.034000	0.88864	2.009000	0.58944	0.528000	0.53228	AAT		0.358	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1	NM_017743		37	78	0	0	0	1	0	37	78					G	65743407	T	G	65743407	3	3	161	1	0	0	0	0	1	0	0	0	4732	1493	52	5	200	5	DPP8	15	65743407	Missense_Mutation	SNP	T	TCGA-DJ-A4V5-01A-11D-A257-08		65743407	36787985	5	3335											
GNAO1	2775	broad.mit.edu	37	chr16	56309933	56309933	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atccagtccctggcagccatCgtccgggccatggacacttt	10	15	0	0			TCGA-DJ-A4V5-01A-11D-A257-08	TCGA-DJ-A4V5-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	303e4531-b4c2-4f91-84ba-6246bd119c87	a9b59b90-c24f-48a9-b818-31a9eb1e2d87	g.chr16:56309933C>T	ENST00000262493.6	+	3	1098	c.252C>T	c.(250-252)atC>atT	p.I84I	GNAO1_ENST00000262494.7_Silent_p.I84I	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	84					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				TGGCAGCCATCGTCCGGGCCA	0.502																																						ENST00000262494.7																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17						c.(250-252)atC>atT		guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O							107	88	95					16																	56309933		2198	4300	6498	SO:0001819	synonymous_variant	2775				dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	g.chr16:56309933C>T		CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.252C>T	16.37:g.56309933C>T						GNAO1_ENST00000262493.6_Silent_p.I84I	p.I84I	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN			3	512	+		all_neural(199;0.159)	84					P29777|Q8TD72|Q9UMV4	Silent	SNP	ENST00000262493.6	37	c.252C>T	CCDS10756.1																																																																																				0.502	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256981.2	NM_020988		12	44	0	0	0	1	0	12	44					T	56309933	C	T	56309933	2	4	161	1	0	0	0	0	0	0	0	1	6508	874	31	1		1	GNAO1	16	56309933	Silent	SNP	C	TCGA-DJ-A4V5-01A-11D-A257-08		56309933	34044820	6	3336											
TBXA2R	6915	broad.mit.edu	37	chr19	3600480	3600480	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgaacccccctgccgcgcGcccgccagcacgctcagggc	12	21	1	0	rs201810680		TCGA-DJ-A4V5-01A-11D-A257-08	TCGA-DJ-A4V5-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	303e4531-b4c2-4f91-84ba-6246bd119c87	a9b59b90-c24f-48a9-b818-31a9eb1e2d87	g.chr19:3600480G>A	ENST00000375190.4	-	2	546	c.153C>T	c.(151-153)ggC>ggT	p.G51G	TBXA2R_ENST00000411851.3_Silent_p.G51G|TBXA2R_ENST00000589966.1_Silent_p.G51G|TBXA2R_ENST00000587717.1_5'Flank	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	51					blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193)	acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961)			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CCTGCCGCGCGCCCGCCAGCA	0.706																																						ENST00000375190.4																			0				kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8						c.(151-153)ggC>ggT		thromboxane A2 receptor	Ridogrel(DB01207)						18	29	25					19																	3600480		2119	4193	6312	SO:0001819	synonymous_variant	0				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity	g.chr19:3600480G>A		CCDS42467.1, CCDS54198.1	19p13.3	2014-09-17						"GPCR / Class A : Prostanoid receptors"	11608	protein-coding gene	gene with protein product		188070				1825698	Standard	NM_001060		Approved		uc021umv.1	P21731		ENST00000375190.4:c.153C>T	19.37:g.3600480G>A						TBXA2R_ENST00000589966.1_Silent_p.G51G|TBXA2R_ENST00000411851.3_Silent_p.G51G	p.G51G	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	2	546	-		Hepatocellular(1079;0.137)	51					O75228|Q6DK52|Q9UCY1|Q9UCY2	Silent	SNP	ENST00000375190.4	37	c.153C>T	CCDS42467.1																																																																																				0.706	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453081.2			7	19	0	0	0	1	0	7	19					A	3600480	G	A	3600480	2	1	161	1	0	0	0	0	0	0	0	1	15660	1074	38	1		1	TBXA2R	19	3600480	Silent	SNP	G	TCGA-DJ-A4V5-01A-11D-A257-08		3600480	55528503	7	3337											
MTHFR	4524	broad.mit.edu	37	chr1	11856448	11856448	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcttcggggtggccttTggggtaacctgccaataggg	15	11	0	0			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr1:11856448T>G	ENST00000376592.1	-	4	723	c.595A>C	c.(595-597)Aaa>Caa	p.K199Q	MTHFR_ENST00000376590.3_Missense_Mutation_p.K199Q|MTHFR_ENST00000376583.3_Missense_Mutation_p.K240Q|MTHFR_ENST00000376585.1_Missense_Mutation_p.K240Q			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	199					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-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;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	GGGTGGCCTTTGGGGTAACCT	0.562																																						ENST00000376592.1																			0				NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(595-597)Aaa>Caa		methylenetetrahydrofolate reductase (NAD(P)H)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)						97	97	97					1																	11856448		2203	4300	6503	SO:0001583	missense	4524				blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding	g.chr1:11856448T>G	BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"5,10-methylenetetrahydrofolate reductase (NADPH)"			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.595A>C	1.37:g.11856448T>G	ENSP00000365777:p.Lys199Gln					MTHFR_ENST00000376590.3_Missense_Mutation_p.K199Q|MTHFR_ENST00000376583.3_Missense_Mutation_p.K240Q|MTHFR_ENST00000376585.1_Missense_Mutation_p.K240Q	p.K199Q			P42898	MTHR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	4	723	-	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-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)	199					B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	ENST00000376592.1	37	c.595A>C	CCDS137.1	.	.	.	.	.	.	.	.	.	.	T	17.88	3.497891	0.64186	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585	D;D;D;D	0.91894	-2.93;-2.93;-2.93;-2.93	4.98	4.98	0.66077	.	0.185406	0.56097	D	0.000023	T	0.79070	0.4384	N	0.01352	-0.895	0.32536	N	0.534252	B;B	0.10296	0.0;0.003	B;B	0.15052	0.007;0.012	T	0.78257	-0.2274	10	0.38643	T	0.18	.	13.822	0.63329	0.0:0.0:0.0:1.0	.	199;240	P42898;Q5SNW6	MTHR_HUMAN;.	Q	199;240;199;240	ENSP00000365777:K199Q;ENSP00000365767:K240Q;ENSP00000365775:K199Q;ENSP00000365770:K240Q	ENSP00000365767:K240Q	K	-	1	0	MTHFR	11779035	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.349000	0.79376	1.998000	0.58463	0.533000	0.62120	AAA		0.562	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1	NM_005957		7	96	0	0	0	1	0	7	96					G	11856448	T	G	11856448	3	3	162	1	0	0	0	0	1	0	0	0	9931	1821	63	5	1407	5	MTHFR	1	11856448	Missense_Mutation	SNP	T	TCGA-DO-A1JZ-01A-11D-A13W-08		11856448	237394173	1	3338											
PADI2	11240	broad.mit.edu	37	chr1	17411155	17411155	+	Frame_Shift_Del	DEL	G	G	-													catgatccacggagcaatccGgaatatcacggtgtccgtga					rs149752241		TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	6f4ff365-ee63-40d0-8f71-ed062f755d22	g.chr1:17411155delG	ENST00000375486.4	-	8	940	c.877delC	c.(877-879)cggfs	p.R293fs	PADI2_ENST00000375481.1_Frame_Shift_Del_p.R293fs|PADI2_ENST00000444885.2_Intron|PADI2_ENST00000466151.1_5'Flank	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	293					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	GGAGCAATCCGGAATATCACG	0.577																																						ENST00000375486.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29						c.(877-879)ggfs		peptidyl arginine deiminase, type II	L-Citrulline(DB00155)						94	62	73					1																	17411155		2199	4294	6493	SO:0001589	frameshift_variant	11240				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17411155delG	AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"Peptidyl arginine deiminases"	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.877delC	1.37:g.17411155delG	ENSP00000364635:p.Arg293fs					PADI2_ENST00000444885.2_Intron|PADI2_ENST00000375481.1_Frame_Shift_Del_p.R293fs	p.R293fs	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	8	940	-		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)	293					Q96DA7|Q9UPN2	Frame_Shift_Del	DEL	ENST00000375486.4	37	c.877delC	CCDS177.1																																																																																				0.577	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1			2	4						2	4	---	---	---	---	-	17411155	G	-	17411155	7	5	162	1	0	1	0	1	0	0	0	0	11378	1115	39	0	1156	0	PADI2	1	17411155	Frame_Shift_Del	DEL	G	TCGA-DO-A1JZ-01A-11D-A13W-08	5554707	17411155	231839466	2	3339											
SCMH1	22955	broad.mit.edu	37	chr1	41514523	41514523	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaccttcttcttatctaagTgggggcctgtgctgccattc	11	11	3	0			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr1:41514523T>G	ENST00000326197.7	-	10	1414	c.1115A>C	c.(1114-1116)cAc>cCc	p.H372P	SCMH1_ENST00000337495.5_Missense_Mutation_p.H382P|SCMH1_ENST00000372595.1_Missense_Mutation_p.H311P|SCMH1_ENST00000361705.3_Missense_Mutation_p.H325P|SCMH1_ENST00000397174.2_Missense_Mutation_p.H352P|SCMH1_ENST00000402904.2_Missense_Mutation_p.H372P|SCMH1_ENST00000372597.1_Missense_Mutation_p.H325P|SCMH1_ENST00000372596.1_Missense_Mutation_p.H311P|SCMH1_ENST00000456518.2_Missense_Mutation_p.H214P|SCMH1_ENST00000361191.5_Missense_Mutation_p.H311P|SCMH1_ENST00000397171.2_Missense_Mutation_p.H311P					sex comb on midleg homolog 1 (Drosophila)											breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				CTTATCTAAGTGGGGGCCTGT	0.498																																						ENST00000402904.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15						c.(1114-1116)cAc>cCc		sex comb on midleg homolog 1 (Drosophila)							115	117	116					1																	41514523		2203	4300	6503	SO:0001583	missense	22955				anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:41514523T>G	AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"Sterile alpha motif (SAM) domain containing"	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.1115A>C	1.37:g.41514523T>G	ENSP00000318094:p.His372Pro					SCMH1_ENST00000361191.5_Missense_Mutation_p.H311P|SCMH1_ENST00000361705.3_Missense_Mutation_p.H325P|SCMH1_ENST00000337495.5_Missense_Mutation_p.H382P|SCMH1_ENST00000326197.7_Missense_Mutation_p.H372P|SCMH1_ENST00000456518.2_Missense_Mutation_p.H214P|SCMH1_ENST00000397171.2_Missense_Mutation_p.H311P|SCMH1_ENST00000397174.2_Missense_Mutation_p.H352P|SCMH1_ENST00000372595.1_Missense_Mutation_p.H311P|SCMH1_ENST00000372596.1_Missense_Mutation_p.H311P|SCMH1_ENST00000372597.1_Missense_Mutation_p.H325P	p.H372P	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN			11	1483	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)	372						Missense_Mutation	SNP	ENST00000326197.7	37	c.1115A>C	CCDS30688.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.633073	0.87660	.	.	ENSG00000010803	ENST00000361705;ENST00000456518;ENST00000402904;ENST00000397174;ENST00000397171;ENST00000361191;ENST00000372597;ENST00000372596;ENST00000337495;ENST00000372595;ENST00000326197	T;T;T;T;T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83	6.03	6.03	0.97812	.	0.062827	0.64402	D	0.000005	T	0.65015	0.2651	L	0.58810	1.83	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.997	D;D;D;D	0.87578	0.998;0.997;0.996;0.993	T	0.62671	-0.6805	10	0.37606	T	0.19	.	15.4485	0.75253	0.0:0.0:0.0:1.0	.	214;382;325;372	B4DRQ8;Q96GD3-2;Q96GD3-4;Q96GD3	.;.;.;SCMH1_HUMAN	P	325;214;372;352;311;311;325;311;382;311;372	ENSP00000354996:H325P;ENSP00000403974:H214P;ENSP00000386079:H372P;ENSP00000380359:H352P;ENSP00000380356:H311P;ENSP00000354656:H311P;ENSP00000361678:H325P;ENSP00000361677:H311P;ENSP00000337352:H382P;ENSP00000361676:H311P;ENSP00000318094:H372P	ENSP00000318094:H372P	H	-	2	0	SCMH1	41287110	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.675000	0.84002	2.323000	0.78572	0.529000	0.55759	CAC		0.498	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015656.1			9	102	0	0	0	1	0	9	102					G	41514523	T	G	41514523	3	3	162	1	0	0	0	0	1	0	0	0	13908	1696	59	5	891	5	SCMH1	1	41514523	Missense_Mutation	SNP	T	TCGA-DO-A1JZ-01A-11D-A13W-08	24103368	41514523	207736098	3	3340											
FCRL1	115350	broad.mit.edu	37	chr1	157772382	157772382	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tagcaactgagcagatgaggAccagcctgtctccctccatc	9	14	1	3			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr1:157772382A>C	ENST00000368176.3	-	4	459	c.392T>G	c.(391-393)gTc>gGc	p.V131G	FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000358292.3_Missense_Mutation_p.V131G|FCRL1_ENST00000491942.1_Missense_Mutation_p.V131G	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	131	Ig-like C2-type 2.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCAGATGAGGACCAGCCTGTC	0.542																																					GBM(54;482 1003 11223 30131 35730)	ENST00000358292.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42						c.(391-393)gTc>gGc		Fc receptor-like 1							68	61	63					1																	157772382		2203	4300	6503	SO:0001583	missense	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157772382A>C	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.392T>G	1.37:g.157772382A>C	ENSP00000357158:p.Val131Gly					FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000368176.3_Missense_Mutation_p.V131G|FCRL1_ENST00000491942.1_Missense_Mutation_p.V131G	p.V131G	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		4	443	-	all_hematologic(112;0.0378)		131			Ig-like C2-type 2.		B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	c.392T>G	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	A	14.11	2.436286	0.43224	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.13901	2.55;2.55;2.55	5.41	3.08	0.35506	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.586754	0.16416	N	0.215370	T	0.30665	0.0772	M	0.93375	3.41	0.47905	D	0.999544	D;D;D	0.76494	0.997;0.995;0.999	D;D;D	0.71656	0.974;0.962;0.971	T	0.12477	-1.0546	10	0.66056	D	0.02	.	7.2524	0.26156	0.8242:0.0:0.1758:0.0	.	131;131;131	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	G	131	ENSP00000351039:V131G;ENSP00000357158:V131G;ENSP00000418130:V131G	ENSP00000351039:V131G	V	-	2	0	FCRL1	156039006	1.000000	0.71417	0.998000	0.56505	0.316000	0.28119	2.156000	0.42310	0.445000	0.26639	0.533000	0.62120	GTC		0.542	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		5	23	0	0	0	1	0	5	23					C	157772382	A	C	157772382	3	2	162	1	0	0	0	0	1	0	0	0	5794	275	10	5	995	5	FCRL1	1	157772382	Missense_Mutation	SNP	A	TCGA-DO-A1JZ-01A-11D-A13W-08	116257859	157772382	91478239	4	3341											
COMMD1	150684	broad.mit.edu	37	chr2	62132935	62132935	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctacggagccagctatatcCagaggtgccacccgaggagt	13	12	0	1			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	6f4ff365-ee63-40d0-8f71-ed062f755d22	g.chr2:62132935C>A	ENST00000311832.5	+	1	154	c.122C>A	c.(121-123)cCa>cAa	p.P41Q	COMMD1_ENST00000472729.1_Intron|COMMD1_ENST00000538736.1_Missense_Mutation_p.P41Q	NM_152516.2	NP_689729.1	Q8N668	COMD1_HUMAN	copper metabolism (Murr1) domain containing 1	41					copper ion homeostasis (GO:0055070)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of protein ubiquitination (GO:0031398)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			large_intestine(1)|liver(2)|lung(5)|ovary(1)	9	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)			CAGCTATATCCAGAGGTGCCA	0.597																																						ENST00000311832.5																			0				large_intestine(1)|liver(2)|lung(5)|ovary(1)	9						c.(121-123)cCa>cAa		copper metabolism (Murr1) domain containing 1							45	46	46					2																	62132935		2203	4300	6503	SO:0001583	missense	150684				copper ion homeostasis|negative regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|regulation of proteasomal ubiquitin-dependent protein catabolic process	cell junction|Cul2-RING ubiquitin ligase complex|cytoplasm|nucleolus	copper ion binding|protein homodimerization activity	g.chr2:62132935C>A	BC022046	CCDS1869.1	2p15	2004-03-02	2004-02-13	2004-02-18	ENSG00000173163	ENSG00000173163			23024	protein-coding gene	gene with protein product	"copper metabolism gene MURR1"	607238	"chromosome 2 open reading frame 5 (MURR1)"	C2orf5		9001233, 11809725	Standard	NM_152516		Approved	MURR1, MGC27155	uc002sbp.3	Q8N668	OTTHUMG00000129445	ENST00000311832.5:c.122C>A	2.37:g.62132935C>A	ENSP00000308236:p.Pro41Gln					COMMD1_ENST00000472729.1_Intron|COMMD1_ENST00000538736.1_Missense_Mutation_p.P41Q	p.P41Q	NM_152516.2	NP_689729.1	Q8N668	COMD1_HUMAN	LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)		1	154	+	Lung NSC(7;0.035)|all_lung(7;0.0691)		41					B4DFQ4|Q96GS0	Missense_Mutation	SNP	ENST00000311832.5	37	c.122C>A	CCDS1869.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893634	0.52121	.	.	ENSG00000173163	ENST00000311832;ENST00000538736	T;T	0.09630	2.96;2.96	5.6	4.72	0.59763	.	0.052645	0.85682	D	0.000000	T	0.28732	0.0712	M	0.74258	2.255	0.45662	D	0.998588	D	0.69078	0.997	D	0.64144	0.922	T	0.02226	-1.1192	10	0.87932	D	0	.	10.4553	0.44546	0.0:0.9107:0.0:0.0893	.	41	Q8N668	COMD1_HUMAN	Q	41	ENSP00000308236:P41Q;ENSP00000438961:P41Q	ENSP00000308236:P41Q	P	+	2	0	COMMD1	61986439	0.992000	0.36948	0.759000	0.31340	0.307000	0.27823	4.186000	0.58337	1.377000	0.46286	0.655000	0.94253	CCA		0.597	COMMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251607.2	NM_152516		3	49	1	0	1	1	1	3	49					A	62132935	C	A	62132935	3	1	162	1	0	0	0	0	1	0	0	0	3714	594	21	4	124	4	COMMD1	2	62132935	Missense_Mutation	SNP	C	TCGA-DO-A1JZ-01A-11D-A13W-08		62132935	181066438	5	3342											
POLR1A	25885	broad.mit.edu	37	chr2	86297188	86297188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaggccaggacgtaggcctCggcccggcccagctcactct	13	17	2	0			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	6f4ff365-ee63-40d0-8f71-ed062f755d22	g.chr2:86297188C>T	ENST00000263857.6	-	13	2197	c.1819G>A	c.(1819-1821)Gag>Aag	p.E607K	POLR1A_ENST00000409681.1_Missense_Mutation_p.E607K			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	607					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						ACGTAGGCCTCGGCCCGGCCC	0.572																																						ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(1819-1821)Gag>Aag		polymerase (RNA) I polypeptide A, 194kDa							40	42	41					2																	86297188		2028	4167	6195	SO:0001583	missense	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86297188C>T	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.1819G>A	2.37:g.86297188C>T	ENSP00000263857:p.Glu607Lys					POLR1A_ENST00000409681.1_Missense_Mutation_p.E607K	p.E607K			O95602	RPA1_HUMAN			13	2197	-			607					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.1819G>A	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.709521	0.89018	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	D;D	0.95238	-3.65;-3.65	5.3	5.3	0.74995	RNA polymerase, alpha subunit (1);RNA polymerase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98554	0.9517	H	0.98351	4.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99787	1.1030	10	0.87932	D	0	-30.4857	18.5668	0.91119	0.0:1.0:0.0:0.0	.	607	O95602	RPA1_HUMAN	K	607	ENSP00000263857:E607K;ENSP00000386300:E607K	ENSP00000263857:E607K	E	-	1	0	POLR1A	86150699	1.000000	0.71417	0.945000	0.38365	0.949000	0.60115	7.466000	0.80914	2.479000	0.83701	0.655000	0.94253	GAG		0.572	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		19	15	0	0	0	1	0	19	15					T	86297188	C	T	86297188	3	4	162	1	0	0	0	0	1	0	0	0	12209	893	31	1	3431	1	POLR1A	2	86297188	Missense_Mutation	SNP	C	TCGA-DO-A1JZ-01A-11D-A13W-08	24164253	86297188	156902185	6	3343											
HOXD12	3238	broad.mit.edu	37	chr2	176964720	176964720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgcccccgcgcagcctgCgggcgccactgccttcggcg	14	20	0	0			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	6f4ff365-ee63-40d0-8f71-ed062f755d22	g.chr2:176964720C>T	ENST00000406506.2	+	1	263	c.191C>T	c.(190-192)gCg>gTg	p.A64V	HOXD12_ENST00000404162.2_Missense_Mutation_p.A64V			P35452	HXD12_HUMAN	homeobox D12	64				QPA -> TC (in Ref. 1; AAF79044). {ECO:0000305}.	embryonic digit morphogenesis (GO:0042733)|pattern specification process (GO:0007389)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		GCGCAGCCTGCGGGCGCCACT	0.751																																						ENST00000406506.2																			0				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10						c.(190-192)gCg>gTg		homeobox D12							5	6	5					2																	176964720		1374	3155	4529	SO:0001583	missense	3238					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176964720C>T		CCDS46456.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170178	ENSG00000170178		"Homeoboxes / ANTP class : HOXL subclass"	5135	protein-coding gene	gene with protein product		142988	"homeo box D12"	HOX4H		1675198, 1973146	Standard	NM_021193		Approved		uc010zev.1	P35452	OTTHUMG00000150358	ENST00000406506.2:c.191C>T	2.37:g.176964720C>T	ENSP00000385586:p.Ala64Val					HOXD12_ENST00000404162.2_Missense_Mutation_p.A64V	p.A64V			P35452	HXD12_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)	1	263	+			64	QPA -> TC (in Ref. 1; AAF79044).				B5MCP0|Q0VAD7|Q0VAD8|Q9NS03	Missense_Mutation	SNP	ENST00000406506.2	37	c.191C>T	CCDS46456.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.411499	0.62399	.	.	ENSG00000170178	ENST00000406506;ENST00000404162	T;T	0.35605	1.3;1.3	5.28	4.4	0.53042	.	0.319538	0.33553	N	0.004795	T	0.32882	0.0844	L	0.56769	1.78	0.09310	N	1	D;P	0.58268	0.982;0.669	B;B	0.41946	0.371;0.085	T	0.35251	-0.9796	10	0.62326	D	0.03	.	8.0727	0.30699	0.0:0.8173:0.0:0.1827	.	64;64	B5MCD3;P35452	.;HXD12_HUMAN	V	64	ENSP00000385586:A64V;ENSP00000385132:A64V	ENSP00000385132:A64V	A	+	2	0	HOXD12	176672966	0.992000	0.36948	0.954000	0.39281	0.981000	0.71138	1.753000	0.38359	1.227000	0.43598	0.655000	0.94253	GCG		0.751	HOXD12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359253.2	NM_021193		2	1	0	0	0	1	0	2	1					T	176964720	C	T	176964720	3	4	162	1	0	0	0	0	1	0	0	0	7321	768	27	1	193	1	HOXD12	2	176964720	Missense_Mutation	SNP	C	TCGA-DO-A1JZ-01A-11D-A13W-08	90667532	176964720	66234653	7	3344											
GPR160	26996	broad.mit.edu	37	chr3	169802316	169802316	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcattcagagttactggctgTcatttttcatggtgatgatt	10	6	3	3			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr3:169802316T>G	ENST00000355897.5	+	4	1164	c.556T>G	c.(556-558)Tca>Gca	p.S186A		NM_014373.2	NP_055188.1	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TTACTGGCTGTCATTTTTCAT	0.398																																						ENST00000355897.5																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8						c.(556-558)Tca>Gca		G protein-coupled receptor 160							77	75	76					3																	169802316		2203	4300	6503	SO:0001583	missense	26996					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:169802316T>G	AB083583	CCDS3211.1	3q26.2-q27	2012-08-21			ENSG00000173890	ENSG00000173890		"GPCR / Class A : Orphans"	23693	protein-coding gene	gene with protein product						12044878	Standard	NM_014373		Approved	GPCR150, GPCR1	uc003fgi.3	Q9UJ42	OTTHUMG00000158776	ENST00000355897.5:c.556T>G	3.37:g.169802316T>G	ENSP00000348161:p.Ser186Ala						p.S186A	NM_014373.2	NP_055188.1	Q9UJ42	GP160_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		4	1164	+	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		186					D3DNQ2	Missense_Mutation	SNP	ENST00000355897.5	37	c.556T>G	CCDS3211.1	.	.	.	.	.	.	.	.	.	.	T	9.567	1.120004	0.20877	.	.	ENSG00000173890	ENST00000355897	.	.	.	5.7	4.52	0.55395	GPCR, rhodopsin-like superfamily (1);	0.240098	0.32836	N	0.005581	T	0.51329	0.1668	M	0.65498	2.005	0.28285	N	0.923793	B	0.25048	0.117	B	0.23018	0.043	T	0.51108	-0.8747	9	0.52906	T	0.07	.	13.0878	0.59151	0.0:0.0:0.1337:0.8663	.	186	Q9UJ42	GP160_HUMAN	A	186	.	ENSP00000348161:S186A	S	+	1	0	GPR160	171285010	0.991000	0.36638	0.159000	0.22649	0.105000	0.19272	3.147000	0.50639	0.950000	0.37743	0.533000	0.62120	TCA		0.398	GPR160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352167.1	NM_014373		9	45	0	0	0	1	0	9	45					G	169802316	T	G	169802316	3	3	162	1	0	0	0	0	1	0	0	0	6664	1667	58	5	558	5	GPR160	3	169802316	Missense_Mutation	SNP	T	TCGA-DO-A1JZ-01A-11D-A13W-08		169802316	28220114	8	3345											
AFF1	4299	broad.mit.edu	37	chr4	88055713	88055713	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggcagtgtggggagcagTggggtggctgccactatcag	19	8	1	0			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr4:88055713T>G	ENST00000307808.6	+	19	3798	c.3378T>G	c.(3376-3378)agT>agG	p.S1126R	AFF1_ENST00000544085.1_Missense_Mutation_p.S765R|AFF1_ENST00000395146.4_Missense_Mutation_p.S1134R	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	1126					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TGGGGAGCAGTGGGGTGGCTG	0.567																																						ENST00000307808.6																			0				breast(1)|large_intestine(2)	3						c.(3376-3378)agT>agG		AF4/FMR2 family, member 1							166	167	167					4																	88055713		2203	4300	6503	SO:0001583	missense	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:88055713T>G	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2", "pre-B-cell monocytic leukemia partner 1"	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.3378T>G	4.37:g.88055713T>G	ENSP00000305689:p.Ser1126Arg					AFF1_ENST00000544085.1_Missense_Mutation_p.S765R|AFF1_ENST00000395146.4_Missense_Mutation_p.S1134R	p.S1126R	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	19	3798	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	1126					B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	c.3378T>G	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	T	12.74	2.027362	0.35797	.	.	ENSG00000172493	ENST00000395146;ENST00000307808;ENST00000544085	T;T;T	0.66460	-0.21;-0.21;-0.21	5.4	-10.8	0.00216	.	1.865810	0.02658	N	0.107213	T	0.57902	0.2085	L	0.55990	1.75	0.09310	N	0.999995	P;P;P	0.47484	0.81;0.896;0.896	B;B;B	0.42827	0.399;0.399;0.399	T	0.62196	-0.6905	10	0.33141	T	0.24	2.4417	10.6077	0.45404	0.0:0.2255:0.2293:0.5452	.	1134;1127;1126	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	R	1134;1126;765	ENSP00000378578:S1134R;ENSP00000305689:S1126R;ENSP00000440843:S765R	ENSP00000305689:S1126R	S	+	3	2	AFF1	88274737	0.000000	0.05858	0.001000	0.08648	0.554000	0.35429	-3.231000	0.00548	-2.371000	0.00602	-0.415000	0.06103	AGT		0.567	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		10	179	0	0	0	1	0	10	179					G	88055713	T	G	88055713	3	3	162	1	0	0	0	0	1	0	0	0	356	1693	59	5	3497	5	AFF1	4	88055713	Missense_Mutation	SNP	T	TCGA-DO-A1JZ-01A-11D-A13W-08		88055713	103098563	9	3346											
NEIL3	55247	broad.mit.edu	37	chr4	178283471	178283471	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgtccttcccattctgcaAccatggcaagcgttccacca	6	15	1	0			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	6f4ff365-ee63-40d0-8f71-ed062f755d22	g.chr4:178283471A>G	ENST00000264596.3	+	10	1782	c.1664A>G	c.(1663-1665)aAc>aGc	p.N555S		NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	555					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CCATTCTGCAACCATGGCAAG	0.388								Base excision repair (BER), DNA glycosylases																														ENST00000264596.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(1663-1665)aAc>aGc	Base excision repair (BER), DNA glycosylases	nei endonuclease VIII-like 3 (E. coli)							92	93	93					4																	178283471		2203	4300	6503	SO:0001583	missense	55247				base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding	g.chr4:178283471A>G	AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 3"	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.1664A>G	4.37:g.178283471A>G	ENSP00000264596:p.Asn555Ser						p.N555S	NM_018248.2	NP_060718.2	Q8TAT5	NEIL3_HUMAN		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)	10	1782	+		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)	555					Q2PPJ3|Q8NG51|Q9NV95	Missense_Mutation	SNP	ENST00000264596.3	37	c.1664A>G	CCDS3828.1	.	.	.	.	.	.	.	.	.	.	A	10.79	1.449111	0.26074	.	.	ENSG00000109674	ENST00000264596	T	0.23348	1.91	4.63	0.95	0.19572	Zinc finger, GRF-type (1);	0.471433	0.22895	N	0.054335	T	0.14399	0.0348	N	0.17082	0.46	0.25080	N	0.990939	B	0.20368	0.044	B	0.23150	0.044	T	0.18903	-1.0322	10	0.52906	T	0.07	-2.0469	8.175	0.31276	0.768:0.0:0.232:0.0	.	555	Q8TAT5	NEIL3_HUMAN	S	555	ENSP00000264596:N555S	ENSP00000264596:N555S	N	+	2	0	NEIL3	178520465	1.000000	0.71417	0.991000	0.47740	0.736000	0.42039	1.495000	0.35627	0.095000	0.17434	-0.415000	0.06103	AAC		0.388	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	NM_018248		15	73	0	0	0	1	0	15	73					G	178283471	A	G	178283471	3	3	162	1	0	0	0	0	1	0	0	0	10320	43	2	3	1702	3	NEIL3	4	178283471	Missense_Mutation	SNP	A	TCGA-DO-A1JZ-01A-11D-A13W-08	90227758	178283471	12870805	10	3347											
PNPLA8	50640	broad.mit.edu	37	chr7	108155503	108155504	+	Frame_Shift_Ins	INS	-	-	C													ttgatgtttttctgttttaaINSccagccactatccgatactt							TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr7:108155503_108155504insC	ENST00000422087.1	-	4	838_839	c.432_433insG	c.(430-435)tggttafs	p.L145fs	PNPLA8_ENST00000453144.1_Frame_Shift_Ins_p.L45fs|PNPLA8_ENST00000426128.2_Frame_Shift_Ins_p.L145fs|PNPLA8_ENST00000257694.8_Frame_Shift_Ins_p.L145fs|PNPLA8_ENST00000436062.1_Frame_Shift_Ins_p.L145fs|PNPLA8_ENST00000388728.5_Frame_Shift_Ins_p.L145fs|PNPLA8_ENST00000483879.1_Intron	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	145					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						TTCTGTTTTAACCAGCCACTAT	0.327																																						ENST00000426128.2																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						c.(430-435)tgtaaafs		patatin-like phospholipase domain containing 8																																				SO:0001589	frameshift_variant	50640				fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity	g.chr7:108155503_108155504insC	AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"Patatin-like phospholipase domain containing"	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.433dupG	7.37:g.108155505_108155505dupC	ENSP00000410804:p.Leu145fs					PNPLA8_ENST00000453144.1_Frame_Shift_Ins_p.CK44fs|PNPLA8_ENST00000436062.1_Frame_Shift_Ins_p.CK144fs|PNPLA8_ENST00000388728.5_Frame_Shift_Ins_p.CK144fs|PNPLA8_ENST00000422087.1_Frame_Shift_Ins_p.CK144fs|PNPLA8_ENST00000257694.8_Frame_Shift_Ins_p.CK144fs|PNPLA8_ENST00000483879.1_Intron	p.CK144fs	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN			2	557_558	-			144					A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Frame_Shift_Ins	INS	ENST00000422087.1	37	c.432_433insG	CCDS34733.1																																																																																				0.327	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723		8	92						8	92	---	---	---	---	C	108155504	-	C	108155503	7	5	162	1	0	1	1	0	0	0	0	0	12171	40	2	0	1951	0	PNPLA8	7	108155503	Frame_Shift_Ins	INS	-	TCGA-DO-A1JZ-01A-11D-A13W-08		108155503	50983160	11	3348											
ADAM28	10863	broad.mit.edu	37	chr8	24207413	24207414	+	Frame_Shift_Ins	INS	-	-	G													ggggtgctgttcccaatggcINSggtcatttttgtggtggttg					rs139883608		TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr8:24207413_24207414insG	ENST00000265769.4	+	19	2137_2138	c.2027_2028insG	c.(2026-2031)gcggtcfs	p.V677fs	RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_Frame_Shift_Ins_p.G425fs|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	677					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A676V(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TTCCCAATGGCGGTCATTTTTG	0.505																																					NSCLC(193;488 2149 22258 34798 40734)	ENST00000265769.4																			1	Substitution - Missense(1)	p.A676V(1)	large_intestine(1)	central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2026-2028)ggtfs		ADAM metallopeptidase domain 28																																				SO:0001589	frameshift_variant	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24207413_24207414insG	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"ADAM metallopeptidase domain containing"	206	protein-coding gene	gene with protein product		606188	"a disintegrin and metalloproteinase domain 28"				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.2029dupG	8.37:g.24207415_24207415dupG	ENSP00000265769:p.Val677fs					RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Frame_Shift_Ins_p.S425fs|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA	p.G676fs	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	19	2137_2138	+		Prostate(55;0.0959)	676					B2RMV5|Q9Y339|Q9Y3S0	Frame_Shift_Ins	INS	ENST00000265769.4	37	c.2027_2028insG	CCDS34865.1																																																																																				0.505	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		8	140						8	140	---	---	---	---	G	24207414	-	G	24207413	7	5	162	1	0	1	1	0	0	0	0	0	246	768	27	0	2157	0	ADAM28	8	24207413	Frame_Shift_Ins	INS	-	TCGA-DO-A1JZ-01A-11D-A13W-08		24207413	122156609	12	3349											
PURG	29942	broad.mit.edu	37	chr8	30889322	30889322	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctcttttctttatggctgTtgcaaattttcctcatctct	4	10	4	0			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr8:30889322T>G	ENST00000475541.1	-	1	1909	c.977A>C	c.(976-978)aAc>aCc	p.N326T	WRN_ENST00000298139.5_5'Flank|PURG_ENST00000339382.2_Intron	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	326						nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		TTTATGGCTGTTGCAAATTTT	0.388																																						ENST00000475541.1																			0				endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12						c.(976-978)aAc>aCc		purine-rich element binding protein G							109	108	108					8																	30889322		1253	2278	3531	SO:0001583	missense	29942					nucleus	DNA binding	g.chr8:30889322T>G	AF195513	CCDS34878.1, CCDS6081.1	8p11	2004-02-09			ENSG00000172733	ENSG00000172733			17930	protein-coding gene	gene with protein product						12034829	Standard	NM_013357		Approved	PURG-A, PURG-B	uc003xin.3	Q9UJV8	OTTHUMG00000157357	ENST00000475541.1:c.977A>C	8.37:g.30889322T>G	ENSP00000418721:p.Asn326Thr					PURG_ENST00000339382.2_Intron	p.N326T	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)	1	1909	-			326					Q8TE64	Missense_Mutation	SNP	ENST00000475541.1	37	c.977A>C	CCDS6081.1	.	.	.	.	.	.	.	.	.	.	T	11.18	1.562138	0.27915	.	.	ENSG00000172733	ENST00000475541	T	0.23348	1.91	5.1	3.92	0.45320	.	.	.	.	.	T	0.18635	0.0447	L	0.34521	1.04	0.34255	D	0.679234	B	0.30068	0.267	B	0.19946	0.027	T	0.26467	-1.0102	9	0.62326	D	0.03	-13.1061	10.78	0.46371	0.0:0.0776:0.0:0.9224	.	326	Q9UJV8	PURG_HUMAN	T	326	ENSP00000418721:N326T	ENSP00000418721:N326T	N	-	2	0	PURG	31008864	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.646000	0.37249	1.914000	0.55421	0.533000	0.62120	AAC		0.388	PURG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348565.1	NM_013357		3	1	0	0	0	1	0	3	1					G	30889322	T	G	30889322	3	3	162	1	0	0	0	0	1	0	0	0	12829	1725	60	5	179	5	PURG	8	30889322	Missense_Mutation	SNP	T	TCGA-DO-A1JZ-01A-11D-A13W-08	6681909	30889322	115474700	13	3350											
LRDD	79751	broad.mit.edu	37	chr11	799816	799816	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggcagtgggagcctcaccGgaactcgtgccggatgcgct	16	13	1	0			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	6f4ff365-ee63-40d0-8f71-ed062f755d22	g.chr11:799816G>A	ENST00000531214.1	-	0	0				PIDD_ENST00000347755.5_Splice_Site_p.R825W|PIDD_ENST00000411829.2_Splice_Site_p.R808W	NM_001191060.1	NP_001177989.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22						L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAGCCTCACCGGAACTCGTGC	0.687																																					Colon(93;848 1468 3270 23355 49636)	ENST00000347755.5																			0											c.e15+1		p53-induced death domain protein							12	15	14					11																	799816		2170	4272	6442	SO:0001631	upstream_gene_variant	55367				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding	g.chr11:799816G>A	AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"Solute carriers"	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310		11.37:g.799816G>A	Exception_encountered					PIDD_ENST00000411829.2_Splice_Site_p.R808_splice	p.R825_splice	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN			15	2614	-			825			Death.		A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Splice_Site	SNP	ENST00000531214.1	37	c.2474_splice	CCDS7715.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236950	0.58886	.	.	ENSG00000177595	ENST00000411829;ENST00000347755	D;D	0.86164	-2.08;-2.08	4.1	0.546	0.17196	Death (3);DEATH-like (2);	0.064498	0.64402	D	0.000014	D	0.90177	0.6930	L	0.55990	1.75	0.46954	D	0.999266	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.89009	0.3427	10	0.66056	D	0.02	.	11.9657	0.53033	0.0:0.0:0.2603:0.7397	.	825;668;808	Q9HB75;Q9HB75-3;Q9HB75-2	PIDD_HUMAN;.;.	W	808;825	ENSP00000416801:R808W;ENSP00000337797:R825W	ENSP00000337797:R825W	R	-	1	2	PIDD	789816	1.000000	0.71417	0.993000	0.49108	0.415000	0.31203	1.535000	0.36061	0.306000	0.22856	0.462000	0.41574	CGG		0.687	SLC25A22-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384124.1			2	0	0	0	0	1	0	2	0					A	799816	G	A	799816	1	1	162	0	1	0	0	0	0	0	0	0	8936	1130	39	1		1	LRDD	11	799816	5'Flank	SNP	G	TCGA-DO-A1JZ-01A-11D-A13W-08		799816	134206700	14	3351											
PRPF40B	25766	broad.mit.edu	37	chr12	50027256	50027256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagtacaagtcggacacagGcaaaccttattactataaca	7	9	0	1			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	6f4ff365-ee63-40d0-8f71-ed062f755d22	g.chr12:50027256G>A	ENST00000380281.1	+	7	504	c.440G>A	c.(439-441)gGc>gAc	p.G147D	PRPF40B_ENST00000548825.2_Missense_Mutation_p.G169D|PRPF40B_ENST00000261897.1_Missense_Mutation_p.G141D			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	147	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						TCGGACACAGGCAAACCTTAT	0.552																																						ENST00000261897.1																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(421-423)gGc>gAc		PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)							143	157	152					12																	50027256		2203	4300	6503	SO:0001583	missense	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50027256G>A	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"Huntingtin interacting protein C"		"PRP40 pre-mRNA processing factor 40 homolog B (yeast)"			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.440G>A	12.37:g.50027256G>A	ENSP00000369634:p.Gly147Asp					PRPF40B_ENST00000548825.2_Missense_Mutation_p.G169D|PRPF40B_ENST00000380281.1_Missense_Mutation_p.G147D	p.G141D			Q6NWY9	PR40B_HUMAN			7	973	+			147			WW 2.		O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37	c.422G>A		.	.	.	.	.	.	.	.	.	.	G	22.1	4.249463	0.80024	.	.	ENSG00000110844	ENST00000548825;ENST00000261897;ENST00000380281	D;D;D	0.94862	-3.54;-3.54;-3.54	4.54	4.54	0.55810	WW/Rsp5/WWP (6);	0.000000	0.64402	D	0.000004	D	0.97657	0.9232	M	0.90309	3.105	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.97905	1.0305	9	.	.	.	-18.6196	17.259	0.87064	0.0:0.0:1.0:0.0	.	147;141;147	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	D	169;141;147	ENSP00000448073:G169D;ENSP00000261897:G141D;ENSP00000369634:G147D	.	G	+	2	0	PRPF40B	48313523	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.288000	0.96055	2.814000	0.96858	0.655000	0.94253	GGC		0.552	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		5	319	0	0	0	1	0	5	319					A	50027256	G	A	50027256	3	1	162	1	0	0	0	0	1	0	0	0	12572	1203	42	2	466	2	PRPF40B	12	50027256	Missense_Mutation	SNP	G	TCGA-DO-A1JZ-01A-11D-A13W-08		50027256	83824639	15	3352											
TP53BP1	7158	broad.mit.edu	37	chr15	43738684	43738684	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atccacgtctggggcagcccCagaatccccttttccactcc	7	18	1	1			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	6f4ff365-ee63-40d0-8f71-ed062f755d22	g.chr15:43738684C>A	ENST00000263801.3	-	14	3178	c.2926G>T	c.(2926-2928)Ggg>Tgg	p.G976W	TP53BP1_ENST00000382044.4_Missense_Mutation_p.G981W|TP53BP1_ENST00000450115.2_Missense_Mutation_p.G981W|TP53BP1_ENST00000382039.3_Missense_Mutation_p.G981W|TP53BP1_ENST00000605155.1_5'Flank	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	976					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|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)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGGGCAGCCCCAGAATCCCCT	0.473								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(2926-2928)Ggg>Tgg	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							101	101	101					15																	43738684		2201	4298	6499	SO:0001583	missense	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43738684C>A	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.2926G>T	15.37:g.43738684C>A	ENSP00000263801:p.Gly976Trp					TP53BP1_ENST00000450115.2_Missense_Mutation_p.G981W|TP53BP1_ENST00000382039.3_Missense_Mutation_p.G981W|TP53BP1_ENST00000382044.4_Missense_Mutation_p.G981W	p.G976W	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	14	3178	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	976					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.2926G>T	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691599	0.68271	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.10005	3.71;3.71;3.71;3.71;2.92	5.47	4.54	0.55810	.	0.636189	0.16408	N	0.215760	T	0.27384	0.0672	M	0.65975	2.015	0.24486	N	0.994329	D;D;D;D	0.69078	0.991;0.994;0.997;0.997	P;P;D;D	0.65140	0.88;0.858;0.932;0.932	T	0.02610	-1.1134	10	0.72032	D	0.01	-2.455	10.7683	0.46308	0.1332:0.7931:0.0:0.0737	.	981;976;981;981	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	W	976;981;981;981;941	ENSP00000263801:G976W;ENSP00000371475:G981W;ENSP00000371470:G981W;ENSP00000393497:G981W;ENSP00000388028:G941W	ENSP00000263801:G976W	G	-	1	0	TP53BP1	41525976	0.483000	0.25956	1.000000	0.80357	0.990000	0.78478	0.860000	0.27871	2.729000	0.93468	0.655000	0.94253	GGG		0.473	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			84	87	1	0	1.02218e-41	1	1.27773e-41	84	87					A	43738684	C	A	43738684	3	1	162	1	0	0	0	0	1	0	0	0	16380	594	21	4	3052	4	TP53BP1	15	43738684	Missense_Mutation	SNP	C	TCGA-DO-A1JZ-01A-11D-A13W-08		43738684	58792708	16	3353											
FBN1	2200	broad.mit.edu	37	chr15	48704823	48704824	+	Frame_Shift_Ins	INS	-	-	T													gtttcctgccccgtttggggINStagccattgatcttacactc					rs398122832		TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr15:48704823_48704824insT	ENST00000316623.5	-	65	8623_8624	c.8168_8169insA	c.(8167-8169)tacfs	p.Y2723fs	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2723					extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CCCGTTTGGGGTAGCCATTGAT	0.515																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(8167-8169)tccfs		fibrillin 1																																				SO:0001589	frameshift_variant	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48704823_48704824insT	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.8169dupA	15.37:g.48704824_48704824dupT	ENSP00000325527:p.Tyr2723fs					FBN1_ENST00000561429.1_5'UTR	p.S2723fs	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	65	8623_8624	-		all_lung(180;0.00279)	2723					B2RUU0|D2JYH6|Q15972|Q75N87	Frame_Shift_Ins	INS	ENST00000316623.5	37	c.8168_8169insA	CCDS32232.1																																																																																				0.515	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			9	230						9	230	---	---	---	---	T	48704824	-	T	48704823	7	5	162	1	0	1	1	0	0	0	0	0	5702	1256	44	0	454	0	FBN1	15	48704823	Frame_Shift_Ins	INS	-	TCGA-DO-A1JZ-01A-11D-A13W-08	4966139	48704823	53826569	17	3354											
CNOT1	23019	broad.mit.edu	37	chr16	58633164	58633165	+	Frame_Shift_Ins	INS	-	-	C													gtatttcctgctggctggctINScggtaatttttcttggttaa							TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr16:58633164_58633165insC	ENST00000317147.5	-	2	409_410	c.77_78insG	c.(76-78)cgafs	p.R26fs	CNOT1_ENST00000569240.1_Frame_Shift_Ins_p.R26fs|CNOT1_ENST00000441024.2_Frame_Shift_Ins_p.R26fs	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	26					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|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)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GCTGGCTGGCTCGGTAATTTTT	0.455																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(76-78)cgcfs		CCR4-NOT transcription complex, subunit 1																																				SO:0001589	frameshift_variant	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58633164_58633165insC	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.78dupG	16.37:g.58633165_58633165dupC	ENSP00000320949:p.Arg26fs					CNOT1_ENST00000441024.2_Frame_Shift_Ins_p.R26fs|CNOT1_ENST00000569240.1_Frame_Shift_Ins_p.R26fs	p.R26fs	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	2	409_410	-			26					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Frame_Shift_Ins	INS	ENST00000317147.5	37	c.77_78insG	CCDS10799.1																																																																																				0.455	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		7	72						7	72	---	---	---	---	C	58633165	-	C	58633164	7	5	162	1	0	1	1	0	0	0	0	0	3617	1538	54	0	7466	0	CNOT1	16	58633164	Frame_Shift_Ins	INS	-	TCGA-DO-A1JZ-01A-11D-A13W-08		58633164	31721589	18	3355											
KIAA1632	57724	broad.mit.edu	37	chr18	43487997	43487997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagggatataggtatctcCtttttgaaaattctcatctt	7	6	3	2			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr18:43487997C>T	ENST00000282041.5	-	24	4289	c.4255G>A	c.(4255-4257)Gga>Aga	p.G1419R	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1419					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TAGGTATCTCCTTTTTGAAAA	0.313																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(4255-4257)Gga>Aga		ectopic P-granules autophagy protein 5 homolog (C. elegans)							74	77	76					18																	43487997		1813	4068	5881	SO:0001583	missense	57724				autophagy			g.chr18:43487997C>T	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.4255G>A	18.37:g.43487997C>T	ENSP00000282041:p.Gly1419Arg					EPG5_ENST00000585906.1_5'UTR	p.G1419R	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			24	4289	-			1419					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.4255G>A	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379485	0.82682	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.09723	2.95	5.91	5.91	0.95273	.	0.122547	0.56097	D	0.000028	T	0.30510	0.0767	L	0.53249	1.67	0.49130	D	0.99975	D;D	0.76494	0.999;0.999	D;D	0.67900	0.954;0.954	T	0.00072	-1.2128	10	0.51188	T	0.08	-18.9457	20.2983	0.98569	0.0:1.0:0.0:0.0	.	1419;1419	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	R	1419;294	ENSP00000282041:G1419R	ENSP00000282041:G1419R	G	-	1	0	EPG5	41741995	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.087000	0.57671	2.802000	0.96397	0.655000	0.94253	GGA		0.313	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		9	89	0	0	0	1	0	9	89					T	43487997	C	T	43487997	3	4	162	1	0	0	0	0	1	0	0	0	8249	690	24	2	3568	2	KIAA1632	18	43487997	Missense_Mutation	SNP	C	TCGA-DO-A1JZ-01A-11D-A13W-08		43487997	34589251	19	3356											
SIX5	147912	broad.mit.edu	37	chr19	46269225	46269226	+	Frame_Shift_Ins	INS	-	-	G													cgtctctggcttcagtggcaINSgggccaggccgggggctggc							TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr19:46269225_46269226insG	ENST00000317578.6	-	3	2134_2135	c.1753_1754insC	c.(1753-1755)ctgfs	p.L585fs	AC074212.5_ENST00000592217.2_RNA|AC074212.5_ENST00000559756.1_RNA|AC074212.6_ENST00000590076.1_RNA|SIX5_ENST00000560168.1_3'UTR	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	585					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)		CTTCAGTGGCAGGGCCAGGCCG	0.698																																						ENST00000317578.6																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(1753-1755)gccfs		SIX homeobox 5				465,69,3574		11,0,443,0,69,1531						3.2	1.0			14	688,111,7243		14,0,660,4,103,3240	no	codingComplex	SIX5	NM_175875.4		25,0,1103,4,172,4771	A1A1,A1A2,A1R,A2A2,A2R,RR		9.9353,12.999,10.9712				1153,180,10817				SO:0001589	frameshift_variant	147912					cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:46269225_46269226insG	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.1754dupC	19.37:g.46269228_46269228dupG	ENSP00000316842:p.Leu585fs					AC074212.5_ENST00000559756.1_RNA|SIX5_ENST00000560168.1_3'UTR	p.A585fs	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)	3	2134_2135	-		Ovarian(192;0.0308)|all_neural(266;0.112)	585						Frame_Shift_Ins	INS	ENST00000317578.6	37	c.1753_1754insC	CCDS12673.1																																																																																				0.698	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417341.3	NM_175875		4	8						4	8	---	---	---	---	G	46269226	-	G	46269225	7	5	162	1	0	1	1	0	0	0	0	0	14350	188	7	0	469	0	SIX5	19	46269225	Frame_Shift_Ins	INS	-	TCGA-DO-A1JZ-01A-11D-A13W-08		46269225	12859758	20	3357											
CDK5RAP1	51654	broad.mit.edu	37	chr20	31981850	31981850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcgcacctgatagagcatGtgacaaggagaatcacatct	9	9	2	4			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	6f4ff365-ee63-40d0-8f71-ed062f755d22	g.chr20:31981850G>A	ENST00000357886.4	-	4	584	c.431C>T	c.(430-432)aCa>aTa	p.T144I	CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.T144I|CDK5RAP1_ENST00000477105.1_5'UTR|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.T144I|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.T144I|CDK5RAP1_ENST00000473997.1_Missense_Mutation_p.T54I			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	144	CDK5 activation inhibition.|MTTase N-terminal.				brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						GATAGAGCATGTGACAAGGAG	0.403																																						ENST00000357886.4																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						c.(430-432)aCa>aTa		CDK5 regulatory subunit associated protein 1							105	97	100					20																	31981850		2203	4300	6503	SO:0001583	missense	51654				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	g.chr20:31981850G>A	AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"chromosome 20 open reading frame 34"	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.431C>T	20.37:g.31981850G>A	ENSP00000350558:p.Thr144Ile					CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.T144I|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.T144I|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.T144I|CDK5RAP1_ENST00000452723.3_Missense_Mutation_p.T54I|CDK5RAP1_ENST00000473997.1_5'UTR	p.T144I			Q96SZ6	CK5P1_HUMAN			4	584	-			144			CDK5 activation inhibition.|MTTase N-terminal.		A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Missense_Mutation	SNP	ENST00000357886.4	37	c.431C>T		.	.	.	.	.	.	.	.	.	.	G	18.02	3.529834	0.64860	.	.	ENSG00000101391	ENST00000346416;ENST00000357886;ENST00000339269;ENST00000452723;ENST00000375351;ENST00000544843	.	.	.	4.48	4.48	0.54585	Methylthiotransferase, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.91205	0.7229	H	0.99770	4.765	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.997;1.0;1.0;1.0;1.0;1.0	D	0.94720	0.7900	9	0.87932	D	0	-11.5027	15.0177	0.71600	0.0:0.0:1.0:0.0	.	144;144;144;144;144;144;54	Q675N4;Q96SZ6-4;Q96SZ6;Q675N5;Q53H36;Q96SZ6-3;Q96SZ6-2	.;.;CK5P1_HUMAN;.;.;.;.	I	144;144;144;54;34;144	.	ENSP00000341840:T144I	T	-	2	0	CDK5RAP1	31445511	1.000000	0.71417	0.977000	0.42913	0.483000	0.33249	8.770000	0.91746	2.481000	0.83766	0.313000	0.20887	ACA		0.403	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	NM_016408		5	87	0	0	0	1	0	5	87					A	31981850	G	A	31981850	3	1	162	1	0	0	0	0	1	0	0	0	3145	1377	48	2	1376	2	CDK5RAP1	20	31981850	Missense_Mutation	SNP	G	TCGA-DO-A1JZ-01A-11D-A13W-08		31981850	31043670	21	3358											
SEZ6L	23544	broad.mit.edu	37	chr22	26743742	26743742	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatccagaatggctggaaaaCcacttctcacacggagttgg	11	10	1	1			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr22:26743742C>A	ENST00000248933.6	+	11	2365	c.2270C>A	c.(2269-2271)aCc>aAc	p.T757N	SEZ6L_ENST00000403121.1_Missense_Mutation_p.T530N|SEZ6L_ENST00000343706.4_Missense_Mutation_p.T757N|SEZ6L_ENST00000529632.2_Missense_Mutation_p.T757N|SEZ6L_ENST00000402979.1_Missense_Mutation_p.T530N|SEZ6L_ENST00000411842.2_5'UTR|SEZ6L_ENST00000404234.3_Missense_Mutation_p.T757N|SEZ6L_ENST00000360929.3_Missense_Mutation_p.T757N			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	757	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GGCTGGAAAACCACTTCTCAC	0.532																																						ENST00000529632.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						c.(2269-2271)aCc>aAc		seizure related 6 homolog (mouse)-like							77	74	75					22																	26743742		2203	4300	6503	SO:0001583	missense	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26743742C>A	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.2270C>A	22.37:g.26743742C>A	ENSP00000248933:p.Thr757Asn					SEZ6L_ENST00000404234.3_Missense_Mutation_p.T757N|SEZ6L_ENST00000360929.3_Missense_Mutation_p.T757N|SEZ6L_ENST00000343706.4_Missense_Mutation_p.T757N|SEZ6L_ENST00000403121.1_Missense_Mutation_p.T530N|SEZ6L_ENST00000411842.2_5'UTR|SEZ6L_ENST00000402979.1_Missense_Mutation_p.T530N|SEZ6L_ENST00000248933.6_Missense_Mutation_p.T757N	p.T757N	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN			11	2466	+			757			Sushi 3.		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	c.2270C>A	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172822	0.78452	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	4.88	4.88	0.63580	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000019	T	0.74068	0.3668	L	0.46670	1.46	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999;0.999;0.999	D;D;D;D;D;D;D	0.91635	0.999;0.986;0.962;0.977;0.983;0.986;0.986	T	0.74976	-0.3480	10	0.52906	T	0.07	.	17.2077	0.86922	0.0:1.0:0.0:0.0	.	757;757;530;757;757;757;757	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	N	757;757;757;757;757;530;530	ENSP00000384772:T757N;ENSP00000437037:T757N;ENSP00000354185:T757N;ENSP00000248933:T757N;ENSP00000342661:T757N;ENSP00000384838:T530N;ENSP00000384733:T530N	ENSP00000248933:T757N	T	+	2	0	SEZ6L	25073742	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	5.350000	0.66016	2.543000	0.85770	0.655000	0.94253	ACC		0.532	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			5	66	1	0	0.0293803	1	0.0303131	5	66					A	26743742	C	A	26743742	3	1	162	1	0	0	0	0	1	0	0	0	14143	507	18	4	2312	4	SEZ6L	22	26743742	Missense_Mutation	SNP	C	TCGA-DO-A1JZ-01A-11D-A13W-08		26743742	24560824	22	3359											
MXRA5	25878	broad.mit.edu	37	chrX	3228358	3228358	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagtcccaccttcagggagAccagcctctccgtgtggcca	10	16	3	1			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chrX:3228358A>C	ENST00000217939.6	-	7	8040	c.7886T>G	c.(7885-7887)gTc>gGc	p.V2629G		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2629	Ig-like C2-type 10.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTTCAGGGAGACCAGCCTCTC	0.612																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(7885-7887)gTc>gGc		matrix-remodelling associated 5							30	29	30					X																	3228358		2197	4284	6481	SO:0001583	missense	25878					extracellular region		g.chrX:3228358A>C	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.7886T>G	X.37:g.3228358A>C	ENSP00000217939:p.Val2629Gly						p.V2629G	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			7	8040	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2629			Ig-like C2-type 10.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.7886T>G	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	A	11.76	1.734274	0.30774	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.69806	-0.43	4.23	3.05	0.35203	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36338	U	0.002656	T	0.75466	0.3853	L	0.59967	1.855	0.50313	D	0.999866	D	0.89917	1.0	D	0.85130	0.997	T	0.73033	-0.4110	10	0.54805	T	0.06	.	9.0598	0.36427	0.91:0.0:0.09:0.0	.	2629	Q9NR99	MXRA5_HUMAN	G	2629	ENSP00000217939:V2629G	ENSP00000217939:V2629G	V	-	2	0	MXRA5	3238358	0.972000	0.33761	0.204000	0.23530	0.001000	0.01503	7.829000	0.86735	0.393000	0.25203	-0.318000	0.08688	GTC		0.612	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		6	30	0	0	0	1	0	6	30					C	3228358	A	C	3228358	3	2	162	1	0	0	0	0	1	0	0	0	10003	275	10	5	604	5	MXRA5	23	3228358	Missense_Mutation	SNP	A	TCGA-DO-A1JZ-01A-11D-A13W-08		3228358	152042202	23	3360											
OR2T33	391195	broad.mit.edu	37	chr1	248437065	248437065	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacttggtgggctctggtgtGgttaaagagtcctaggagaa	16	5	1	2			TCGA-DO-A1K0-01A-11D-A13W-08	TCGA-DO-A1K0-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	459aa6ca-af9e-4686-951f-36a18e00524a	0c694145-ea2a-4b7c-949b-6aea0149a530	g.chr1:248437065G>T	ENST00000318021.2	-	1	73	c.52C>A	c.(52-54)Cac>Aac	p.H18N		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCTCTGGTGTGGTTAAAGAGT	0.448																																						ENST00000318021.2																			0				NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67						c.(52-54)Cac>Aac		olfactory receptor, family 2, subfamily T, member 33							52	54	53					1																	248437065		2197	4292	6489	SO:0001583	missense	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248437065G>T		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"GPCR / Class A : Olfactory receptors"	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.52C>A	1.37:g.248437065G>T	ENSP00000324687:p.His18Asn						p.H18N	NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	73	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		18					B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	c.52C>A	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	9.248	1.040043	0.19669	.	.	ENSG00000177212	ENST00000318021	T	0.00642	6.02	2.7	-0.969	0.10310	.	0.756325	0.10798	U	0.632994	T	0.00608	0.0020	N	0.24115	0.695	0.09310	N	1	P	0.48998	0.918	P	0.47827	0.558	T	0.47182	-0.9137	10	0.34782	T	0.22	.	0.9343	0.01341	0.3111:0.1557:0.375:0.1582	.	18	Q8NG76	O2T33_HUMAN	N	18	ENSP00000324687:H18N	ENSP00000324687:H18N	H	-	1	0	OR2T33	246503688	0.000000	0.05858	0.065000	0.19835	0.024000	0.10985	-0.234000	0.09028	-0.380000	0.07894	-0.450000	0.05554	CAC		0.448	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		14	100	1	0	2.89027e-11	1	3.17929e-11	14	100					T	248437065	G	T	248437065	3	4	163	1	0	0	0	0	1	0	0	0	11024	1348	47	4	913	4	OR2T33	1	248437065	Missense_Mutation	SNP	G	TCGA-DO-A1K0-01A-11D-A13W-08		248437065	813556	1	3361											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DO-A1K0-01A-11D-A13W-08	TCGA-DO-A1K0-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	459aa6ca-af9e-4686-951f-36a18e00524a	0c694145-ea2a-4b7c-949b-6aea0149a530	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		41	44	0	0	0	1	0	41	44					T	140453136	A	T	140453136	3	4	163	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DO-A1K0-01A-11D-A13W-08		140453136	18685527	2	3362											
FAM78A	286336	broad.mit.edu	37	chr9	134136508	134136508	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtgaagctctggtcccGgtagatattggtgagcttgg	17	6	1	3			TCGA-DO-A1K0-01A-11D-A13W-08	TCGA-DO-A1K0-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	459aa6ca-af9e-4686-951f-36a18e00524a	0c694145-ea2a-4b7c-949b-6aea0149a530	g.chr9:134136508G>A	ENST00000372271.3	-	2	920	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	FAM78A_ENST00000247295.4_5'UTR|FAM78A_ENST00000372269.3_Missense_Mutation_p.R182W	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	185								p.R185W(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		CTCTGGTCCCGGTAGATATTG	0.572																																						ENST00000372271.3																			1	Substitution - Missense(1)	p.R185W(1)	endometrium(1)	NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						c.(553-555)Cgg>Tgg		family with sequence similarity 78, member A							114	103	107					9																	134136508		2203	4300	6503	SO:0001583	missense	286336							g.chr9:134136508G>A	AK095423	CCDS6941.2	9q34	2008-02-05	2005-07-18	2005-07-18	ENSG00000126882	ENSG00000126882			25465	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 59"	C9orf59		11214971	Standard	NM_033387		Approved	FLJ00024	uc004cak.3	Q5JUQ0	OTTHUMG00000020821	ENST00000372271.3:c.553C>T	9.37:g.134136508G>A	ENSP00000361345:p.Arg185Trp					FAM78A_ENST00000372269.3_Missense_Mutation_p.R182W|FAM78A_ENST00000247295.4_5'UTR	p.R185W	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)	2	920	-	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	185					Q86VQ9|Q9H7P4	Missense_Mutation	SNP	ENST00000372271.3	37	c.553C>T	CCDS6941.2	.	.	.	.	.	.	.	.	.	.	G	27.8	4.867165	0.91511	.	.	ENSG00000126882	ENST00000372269;ENST00000372271;ENST00000464831	D;D;D	0.94184	-3.37;-3.37;-3.37	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	D	0.96417	0.8831	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.97034	0.9752	10	0.87932	D	0	-39.9624	17.1064	0.86664	0.0:0.0:1.0:0.0	.	185;182	Q5JUQ0;Q5JUQ2	FA78A_HUMAN;.	W	182;185;154	ENSP00000361343:R182W;ENSP00000361345:R185W;ENSP00000419959:R154W	ENSP00000361343:R182W	R	-	1	2	FAM78A	133126329	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.428000	0.59894	2.337000	0.79520	0.462000	0.41574	CGG		0.572	FAM78A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054720.1	NM_033387		39	46	0	0	0	1	0	39	46					A	134136508	G	A	134136508	3	1	163	1	0	0	0	0	1	0	0	0	5626	1115	39	1	302	1	FAM78A	9	134136508	Missense_Mutation	SNP	G	TCGA-DO-A1K0-01A-11D-A13W-08		134136508	7076923	3	3363											
GBF1	8729	broad.mit.edu	37	chr10	104125331	104125332	+	Frame_Shift_Ins	INS	-	-	T													tgtgagtgaccgcaaaaacaINSttgacctgttggagagcttt					rs141624228		TCGA-DO-A1K0-01A-11D-A13W-08	TCGA-DO-A1K0-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	459aa6ca-af9e-4686-951f-36a18e00524a	0c694145-ea2a-4b7c-949b-6aea0149a530	g.chr10:104125331_104125332insT	ENST00000369983.3	+	18	2541_2542	c.2281_2282insT	c.(2281-2283)attfs	p.I761fs		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	761	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CCGCAAAAACATTGACCTGTTG	0.505																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(2281-2283)tgafs		golgi brefeldin A resistant guanine nucleotide exchange factor 1																																				SO:0001589	frameshift_variant	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104125331_104125332insT	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.2283dupT	10.37:g.104125333_104125333dupT	ENSP00000359000:p.Ile761fs						p.*761fs	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	18	2541_2542	+		Colorectal(252;0.0236)	761			SEC7.		Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Frame_Shift_Ins	INS	ENST00000369983.3	37	c.2281_2282insT	CCDS7533.1																																																																																				0.505	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			60	64						60	64	---	---	---	---	T	104125332	-	T	104125331	7	5	163	1	0	1	1	0	0	0	0	0	6271	217	8	0	2347	0	GBF1	10	104125331	Frame_Shift_Ins	INS	-	TCGA-DO-A1K0-01A-11D-A13W-08		104125331	31409416	4	3364											
ZP1	22917	broad.mit.edu	37	chr11	60636685	60636685	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgggtcacctccaggccGcaggagcctgcagtcttctc	11	16	3	0	rs549988411		TCGA-DO-A1K0-01A-11D-A13W-08	TCGA-DO-A1K0-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	459aa6ca-af9e-4686-951f-36a18e00524a	0c694145-ea2a-4b7c-949b-6aea0149a530	g.chr11:60636685G>A	ENST00000278853.5	+	2	264	c.264G>A	c.(262-264)ccG>ccA	p.P88P		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	88					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCTCCAGGCCGCAGGAGCCTG	0.582													G|||	1	0.000199681	0	0.0014	5008	,	,		20096	0		0	False		,,,				2504	0					ENST00000278853.5																			0				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(262-264)ccG>ccA		zona pellucida glycoprotein 1 (sperm receptor)							58	54	55					11																	60636685		2203	4299	6502	SO:0001819	synonymous_variant	22917				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:60636685G>A	BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"Zona pellucida glycoproteins"	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.264G>A	11.37:g.60636685G>A							p.P88P	NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN			2	264	+			88						Silent	SNP	ENST00000278853.5	37	c.264G>A	CCDS31572.1																																																																																				0.582	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396329.1	NM_207341		3	22	0	0	0	1	0	3	22					A	60636685	G	A	60636685	2	1	163	1	0	0	0	0	0	0	0	1	18212	1074	38	1		1	ZP1	11	60636685	Silent	SNP	G	TCGA-DO-A1K0-01A-11D-A13W-08		60636685	74369831	5	3365											
ARID2	196528	broad.mit.edu	37	chr12	46125035	46125035	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtggggagaaattgttgaAgagttcaactttcccagaag	12	6	1	4			TCGA-DO-A1K0-01A-11D-A13W-08	TCGA-DO-A1K0-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	459aa6ca-af9e-4686-951f-36a18e00524a	0c694145-ea2a-4b7c-949b-6aea0149a530	g.chr12:46125035A>G	ENST00000334344.6	+	3	394	c.222A>G	c.(220-222)gaA>gaG	p.E74E	ARID2_ENST00000422737.1_5'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	74	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AAATTGTTGAAGAGTTCAACT	0.373			"N, S, F"		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"N, S, F"	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(220-222)gaA>gaG		AT rich interactive domain 2 (ARID, RFX-like)							139	145	143					12																	46125035		2203	4300	6503	SO:0001819	synonymous_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46125035A>G		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.222A>G	12.37:g.46125035A>G						ARID2_ENST00000422737.1_5'UTR	p.E74E	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	3	394	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	74			ARID.		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Silent	SNP	ENST00000334344.6	37	c.222A>G	CCDS31783.1																																																																																				0.373	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		4	102	0	0	0	1	0	4	102					G	46125035	A	G	46125035	2	3	163	1	0	0	0	0	0	0	0	1	915	69	3	3		3	ARID2	12	46125035	Silent	SNP	A	TCGA-DO-A1K0-01A-11D-A13W-08		46125035	87726860	6	3366											
ZFHX3	463	broad.mit.edu	37	chr16	72831869	72831869	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagggctctctttaacttaTgcaggtgggagacagaattg	13	6	1	2			TCGA-DO-A1K0-01A-11D-A13W-08	TCGA-DO-A1K0-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	459aa6ca-af9e-4686-951f-36a18e00524a	0c694145-ea2a-4b7c-949b-6aea0149a530	g.chr16:72831869T>C	ENST00000268489.5	-	9	5384	c.4712A>G	c.(4711-4713)cAt>cGt	p.H1571R	ZFHX3_ENST00000397992.5_Missense_Mutation_p.H657R	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1571					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)				CTTTAACTTATGCAGGTGGGA	0.463																																						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.(4711-4713)cAt>cGt		zinc finger homeobox 3							61	61	61					16																	72831869		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.chr16:72831869T>C	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.4712A>G	16.37:g.72831869T>C	ENSP00000268489:p.His1571Arg					ZFHX3_ENST00000397992.5_Missense_Mutation_p.H657R	p.H1571R	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	5384	-		Ovarian(137;0.13)	1571					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.4712A>G	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	T	14.34	2.507160	0.44558	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.75938	-0.98;-0.97	5.78	5.78	0.91487	Zinc finger, U1-type (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000087	D	0.84197	0.5419	L	0.61218	1.895	0.80722	D	1	D	0.62365	0.991	D	0.68192	0.956	D	0.85578	0.1238	10	0.72032	D	0.01	.	16.3979	0.83621	0.0:0.0:0.0:1.0	.	1571	Q15911	ZFHX3_HUMAN	R	1571;657	ENSP00000268489:H1571R;ENSP00000438926:H657R	ENSP00000268489:H1571R	H	-	2	0	ZFHX3	71389370	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.333000	0.79357	0.533000	0.62120	CAT		0.463	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		48	53	0	0	0	1	0	48	53					C	72831869	T	C	72831869	3	2	163	1	0	0	0	0	1	0	0	0	17631	1464	51	3	6407	3	ZFHX3	16	72831869	Missense_Mutation	SNP	T	TCGA-DO-A1K0-01A-11D-A13W-08		72831869	17522884	7	3367											
PRDM15	63977	broad.mit.edu	37	chr21	43243760	43243760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtgtacttcttgtcgcCgtgggtgagcaggtgcttgt	16	8	1	1			TCGA-DO-A1K0-01A-11D-A13W-08	TCGA-DO-A1K0-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	459aa6ca-af9e-4686-951f-36a18e00524a	0c694145-ea2a-4b7c-949b-6aea0149a530	g.chr21:43243760C>T	ENST00000269844.3	-	21	2883	c.2773G>A	c.(2773-2775)Ggc>Agc	p.G925S	PRDM15_ENST00000447207.2_Missense_Mutation_p.G559S|PRDM15_ENST00000422911.1_Missense_Mutation_p.G616S|PRDM15_ENST00000398548.1_Missense_Mutation_p.G596S|PRDM15_ENST00000538201.1_Missense_Mutation_p.G579S	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	925					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TTCTTGTCGCCGTGGGTGAGC	0.607																																						ENST00000422911.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(1846-1848)Ggc>Agc		PR domain containing 15							90	65	73					21																	43243760		2198	4290	6488	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43243760C>T	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"Zinc fingers, C2H2-type"	13999	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 83"	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.2773G>A	21.37:g.43243760C>T	ENSP00000269844:p.Gly925Ser					PRDM15_ENST00000538201.1_Missense_Mutation_p.G579S|PRDM15_ENST00000269844.3_Missense_Mutation_p.G925S|PRDM15_ENST00000398548.1_Missense_Mutation_p.G596S|PRDM15_ENST00000447207.2_Missense_Mutation_p.G559S	p.G616S			P57071	PRD15_HUMAN			15	1947	-			925					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.1846G>A	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	c	36	5.624944	0.96660	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32	4.99	4.99	0.66335	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49966	0.1588	L	0.28694	0.88	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	0.53528	-0.8426	9	0.72032	D	0.01	-36.4206	17.6069	0.88040	0.0:1.0:0.0:0.0	.	925;616;596	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	S	616;596;579;559;925	ENSP00000408592:G616S;ENSP00000381556:G596S;ENSP00000444044:G579S;ENSP00000390245:G559S;ENSP00000269844:G925S	ENSP00000269844:G925S	G	-	1	0	PRDM15	42116829	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.471000	0.80985	2.470000	0.83445	0.556000	0.70494	GGC		0.607	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		2	0	0	0	0	1	0	2	0					T	43243760	C	T	43243760	3	4	163	1	0	0	0	0	1	0	0	0	12456	652	23	1	1794	1	PRDM15	21	43243760	Missense_Mutation	SNP	C	TCGA-DO-A1K0-01A-11D-A13W-08		43243760	4886135	8	3368											
FOXP3	50943	broad.mit.edu	37	chrX	49110404	49110404	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgtgctgtttccatggctaCcccacaggtgcctccggaca	10	14	0	0			TCGA-DO-A1K0-01A-11D-A13W-08	TCGA-DO-A1K0-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	459aa6ca-af9e-4686-951f-36a18e00524a	0c694145-ea2a-4b7c-949b-6aea0149a530	g.chrX:49110404C>A	ENST00000376207.4	-	9	1128	c.941G>T	c.(940-942)gGt>gTt	p.G314V	FOXP3_ENST00000376199.2_Missense_Mutation_p.G279V|FOXP3_ENST00000557224.1_Missense_Mutation_p.G279V|FOXP3_ENST00000376197.1_Missense_Mutation_p.G264V|FOXP3_ENST00000455775.2_Missense_Mutation_p.G287V|FOXP3_ENST00000518685.1_Missense_Mutation_p.G279V	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	314					B cell homeostasis (GO:0001782)|CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|chromatin remodeling (GO:0006338)|cytokine production (GO:0001816)|myeloid cell homeostasis (GO:0002262)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of immune response (GO:0050777)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of histone acetylation (GO:0035066)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peripheral T cell tolerance induction (GO:0002851)|positive regulation of T cell anergy (GO:0002669)|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 beta1 production (GO:0032914)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell activation (GO:0042110)|T cell homeostasis (GO:0043029)|T cell mediated immunity (GO:0002456)|T cell receptor signaling pathway (GO:0050852)|tolerance induction to self antigen (GO:0002513)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|NFAT protein binding (GO:0051525)|protein homodimerization activity (GO:0042803)|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 corepressor activity (GO:0003714)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					TCCATGGCTACCCCACAGGTG	0.622																																					GBM(182;1432 2112 16160 23073 31774)	ENST00000376207.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10						c.(940-942)gGt>gTt		forkhead box P3							73	41	52					X																	49110404		2203	4300	6503	SO:0001583	missense	50943				B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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 corepressor activity|zinc ion binding	g.chrX:49110404C>A		CCDS14323.1, CCDS48109.1	Xp11.23	2014-09-17		2002-09-20	ENSG00000049768	ENSG00000049768		"Forkhead boxes"	6106	protein-coding gene	gene with protein product		300292	"immune dysregulation, polyendocrinopathy, enteropathy, X-linked"	IPEX		10677306, 11138001	Standard	NM_014009		Approved	JM2, XPID, AIID, PIDX, DIETER, SCURFIN	uc004dnf.4	Q9BZS1	OTTHUMG00000024135	ENST00000376207.4:c.941G>T	X.37:g.49110404C>A	ENSP00000365380:p.Gly314Val					FOXP3_ENST00000557224.1_Missense_Mutation_p.G279V|FOXP3_ENST00000376199.2_Missense_Mutation_p.G279V|FOXP3_ENST00000376197.1_Missense_Mutation_p.G264V|FOXP3_ENST00000455775.2_Missense_Mutation_p.G287V|FOXP3_ENST00000518685.1_Missense_Mutation_p.G279V	p.G314V	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN			9	1128	-	Ovarian(276;0.236)		314					A5HJT1|B7ZLG0|B9UN80|O60827|Q14DD8|Q4ZH51	Missense_Mutation	SNP	ENST00000376207.4	37	c.941G>T	CCDS14323.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854098	0.71719	.	.	ENSG00000049768	ENST00000376207;ENST00000376199;ENST00000557224;ENST00000518685;ENST00000376197;ENST00000455775	D;D;D;D;D;D	0.97924	-3.65;-3.63;-4.61;-3.63;-4.57;-4.0	5.46	5.46	0.80206	.	0.094132	0.47455	D	0.000228	D	0.97813	0.9282	L	0.47716	1.5	0.58432	D	0.999994	D;D;D;D;D	0.89917	0.998;1.0;0.979;0.998;0.999	P;D;P;D;D	0.73708	0.904;0.981;0.798;0.929;0.956	D	0.98083	1.0405	10	0.52906	T	0.07	.	13.6983	0.62593	0.0:1.0:0.0:0.0	.	287;337;279;314;279	B9UN80;B7ZLG1;Q9BZS1-3;Q9BZS1;Q9BZS1-2	.;.;.;FOXP3_HUMAN;.	V	314;279;279;279;264;287	ENSP00000365380:G314V;ENSP00000365372:G279V;ENSP00000451208:G279V;ENSP00000428952:G279V;ENSP00000365369:G264V;ENSP00000396415:G287V	ENSP00000365369:G264V	G	-	2	0	FOXP3	48997348	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	3.535000	0.53575	2.302000	0.77476	0.424000	0.28305	GGT		0.622	FOXP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060814.1	NM_014009		3	25	1	0	0.004672	1	0.004672	3	25					A	49110404	C	A	49110404	3	1	163	1	0	0	0	0	1	0	0	0	6028	507	18	4	370	4	FOXP3	23	49110404	Missense_Mutation	SNP	C	TCGA-DO-A1K0-01A-11D-A13W-08		49110404	106160156	9	3369											
GRIA3	2892	broad.mit.edu	37	chrX	122616871	122616871	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagaaggctacaacgtgtaTggaacagagagtgttaagat	13	4	0	3			TCGA-DO-A1K0-01A-11D-A13W-08	TCGA-DO-A1K0-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	459aa6ca-af9e-4686-951f-36a18e00524a	0c694145-ea2a-4b7c-949b-6aea0149a530	g.chrX:122616871T>C	ENST00000371251.1	+	15	2713	c.2661T>C	c.(2659-2661)taT>taC	p.Y887Y	GRIA3_ENST00000264357.5_Silent_p.Y887Y|GRIA3_ENST00000371256.5_Silent_p.Y887Y|GRIA3_ENST00000542149.1_3'UTR			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	887					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	ACAACGTGTATGGAACAGAGA	0.383																																						ENST00000264357.5																			0				breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57						c.(2659-2661)taT>taC		glutamate receptor, ionotropic, AMPA 3	L-Glutamic Acid(DB00142)						114	102	106					X																	122616871		2203	4300	6503	SO:0001819	synonymous_variant	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122616871T>C	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4573	protein-coding gene	gene with protein product		305915	"glutamate receptor, ionotrophic, AMPA 3"	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.2661T>C	X.37:g.122616871T>C						GRIA3_ENST00000371251.1_Silent_p.Y887Y|GRIA3_ENST00000371256.5_Silent_p.Y887Y|GRIA3_ENST00000542149.1_3'UTR	p.Y887Y	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN			15	2953	+			887					D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Silent	SNP	ENST00000371251.1	37	c.2661T>C	CCDS14604.1																																																																																				0.383	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		10	120	0	0	0	1	0	10	120					C	122616871	T	C	122616871	2	2	163	1	0	0	0	0	0	0	0	1	6769	1471	51	3		3	GRIA3	23	122616871	Silent	SNP	T	TCGA-DO-A1K0-01A-11D-A13W-08	73506467	122616871	32653689	10	3370											
UBE4B	10277	broad.mit.edu	37	chr1	10209302	10209302	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgttgcctgagttttaTgtagaagatgttgcagaatt	12	5	0	4			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr1:10209302T>C	ENST00000253251.8	+	19	3104	c.2265T>C	c.(2263-2265)taT>taC	p.Y755Y	UBE4B_ENST00000377157.3_Silent_p.Y639Y|UBE4B_ENST00000343090.6_Silent_p.Y884Y					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-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;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CTGAGTTTTATGTAGAAGATG	0.274																																						ENST00000377157.3																			0				NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(1915-1917)taT>taC		ubiquitination factor E4B							124	129	128					1																	10209302		2203	4299	6502	SO:0001819	synonymous_variant	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10209302T>C	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"U-box domain containing"	12500	protein-coding gene	gene with protein product		613565	"ubiquitination factor E4B (homologous to yeast UFD2)", "ubiquitination factor E4B (UFD2 homolog, yeast)"			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.2265T>C	1.37:g.10209302T>C						UBE4B_ENST00000253251.8_Silent_p.Y755Y|UBE4B_ENST00000343090.6_Silent_p.Y884Y	p.Y639Y	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	19	2978	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-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)	884						Silent	SNP	ENST00000253251.8	37	c.1917T>C	CCDS110.1																																																																																				0.274	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		5	53	0	0	0	1	0	5	53					C	10209302	T	C	10209302	2	2	164	1	0	0	0	0	0	0	0	1	16880	1471	51	3		3	UBE4B	1	10209302	Silent	SNP	T	TCGA-DO-A2HM-01B-11D-A22D-08		10209302	239041319	1	3371											
MACF1	23499	broad.mit.edu	37	chr1	39926406	39926406	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggatttcttccggcgcattGataaggaccaggatgggaag	14	7	1	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr1:39926406G>A	ENST00000372915.3	+	91	21247	c.21160G>A	c.(21160-21162)Gat>Aat	p.D7054N	MACF1_ENST00000317713.7_Missense_Mutation_p.D5096N|MACF1_ENST00000289893.4_Missense_Mutation_p.D5598N|MACF1_ENST00000361689.2_Missense_Mutation_p.D5096N|MACF1_ENST00000564288.1_Missense_Mutation_p.D7155N|MACF1_ENST00000545844.1_Missense_Mutation_p.D5096N|MACF1_ENST00000539005.1_Missense_Mutation_p.D4966N|MACF1_ENST00000567887.1_Missense_Mutation_p.D7192N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7054	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCGGCGCATTGATAAGGACCA	0.428																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(21463-21465)Gat>Aat		microtubule-actin crosslinking factor 1							178	175	176					1																	39926406		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39926406G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.21160G>A	1.37:g.39926406G>A	ENSP00000362006:p.Asp7054Asn					MACF1_ENST00000372915.3_Missense_Mutation_p.D7054N|MACF1_ENST00000317713.7_Missense_Mutation_p.D5096N|MACF1_ENST00000567887.1_Missense_Mutation_p.D7192N|MACF1_ENST00000361689.2_Missense_Mutation_p.D5096N|MACF1_ENST00000539005.1_Missense_Mutation_p.D4966N|MACF1_ENST00000289893.4_Missense_Mutation_p.D5598N|MACF1_ENST00000545844.1_Missense_Mutation_p.D5096N	p.D7155N			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		92	22240	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	7054			C-terminal tail (By similarity).|GAR.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.21463G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.849041	0.97023	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	D;D;D;D;D;D	0.95821	-3.82;-3.82;-3.82;-3.82;-3.82;-3.82	5.81	5.81	0.92471	EF-hand-like domain (1);	0.000000	0.64402	D	0.000006	D	0.98254	0.9422	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.996;1.0	D	0.98448	1.0590	9	.	.	.	.	20.0694	0.97716	0.0:0.0:1.0:0.0	.	7054;5096	Q9UPN3;F8W8Q1	MACF1_HUMAN;.	N	5096;7054;5096;5096;4966;5598	ENSP00000439537:D5096N;ENSP00000362006:D7054N;ENSP00000354573:D5096N;ENSP00000313438:D5096N;ENSP00000444364:D4966N;ENSP00000289893:D5598N	.	D	+	1	0	MACF1	39698993	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.761000	0.94854	0.585000	0.79938	GAT		0.428	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		10	150	0	0	0	1	0	10	150					A	39926406	G	A	39926406	3	1	164	1	0	0	0	0	1	0	0	0	9144	1290	45	2	21787	2	MACF1	1	39926406	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	29717104	39926406	209324215	2	3372											
NASP	4678	broad.mit.edu	37	chr1	46080813	46080813	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggcttatgggtacaactctCagtatgatgaggcagtggca	13	7	1	2			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr1:46080813C>T	ENST00000350030.3	+	10	1882	c.1795C>T	c.(1795-1797)Cag>Tag	p.Q599*	NASP_ENST00000537798.1_Nonsense_Mutation_p.Q535*|NASP_ENST00000530073.1_3'UTR|NASP_ENST00000351223.3_Nonsense_Mutation_p.Q260*|NASP_ENST00000372052.4_Nonsense_Mutation_p.Q233*|NASP_ENST00000402363.3_Nonsense_Mutation_p.Q601*	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	599	Glu-rich (acidic).				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)	p.Q601*(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					GTACAACTCTCAGTATGATGA	0.512																																						ENST00000350030.3																			1	Substitution - Nonsense(1)	p.Q601*(1)	lung(1)	breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17						c.(1795-1797)Cag>Tag		nuclear autoantigenic sperm protein (histone-binding)							103	96	98					1																	46080813		2203	4300	6503	SO:0001587	stop_gained	4678				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding	g.chr1:46080813C>T	M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"Tetratricopeptide (TTC) repeat domain containing"	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.1795C>T	1.37:g.46080813C>T	ENSP00000255120:p.Gln599*					NASP_ENST00000402363.3_Nonsense_Mutation_p.Q601*|NASP_ENST00000372052.4_Nonsense_Mutation_p.Q233*|NASP_ENST00000351223.3_Nonsense_Mutation_p.Q260*|NASP_ENST00000537798.1_Nonsense_Mutation_p.Q535*|NASP_ENST00000530073.1_3'UTR	p.Q599*	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN			10	1882	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)		599			Glu-rich (acidic).		A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Nonsense_Mutation	SNP	ENST00000350030.3	37	c.1795C>T	CCDS524.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.551923|6.551923	0.97658|0.97658	.|.	.|.	ENSG00000132780|ENSG00000132780	ENST00000537798;ENST00000402363;ENST00000341288;ENST00000528238;ENST00000350030;ENST00000372052;ENST00000351223|ENST00000534450	.|T	.|0.63417	.|-0.04	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	0.099745|.	0.64402|.	D|.	0.000001|.	.|T	.|0.64918	.|0.2642	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71377	.|-0.4611	.|4	0.87932|.	D|.	0|.	-9.8764|-9.8764	11.3421|11.3421	0.49539|0.49539	0.1405:0.724:0.1355:0.0|0.1405:0.724:0.1355:0.0	.|.	.|.	.|.	.|.	X|L	535;601;499;196;599;233;260|28	.|ENSP00000434240:S28L	ENSP00000345532:Q499X|.	Q|S	+|+	1|2	0|0	NASP|NASP	45853400|45853400	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.344000|4.344000	0.59354|0.59354	2.635000|2.635000	0.89317|0.89317	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.512	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021533.2	NM_002482		4	85	0	0	0	1	0	4	85					T	46080813	C	T	46080813	4	4	164	1	0	0	0	0	0	1	0	0	10172	827	29	2	1910	2	NASP	1	46080813	Nonsense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	6154407	46080813	203169808	3	3373											
PTPN22	26191	broad.mit.edu	37	chr1	114380398	114380398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttagaactggtaccacttgGaggccatgatgaaaaataag	10	7	0	3			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr1:114380398G>A	ENST00000359785.5	-	13	1759	c.1624C>T	c.(1624-1626)Cca>Tca	p.P542S	PTPN22_ENST00000525799.1_Missense_Mutation_p.P415S|PTPN22_ENST00000528414.1_Missense_Mutation_p.P487S|PTPN22_ENST00000538253.1_Missense_Mutation_p.P298S|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Missense_Mutation_p.P542S	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	542					negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		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)		GTACCACTTGGAGGCCATGAT	0.393																																						ENST00000359785.5																			0				NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1624-1626)Cca>Tca		protein tyrosine phosphatase, non-receptor type 22 (lymphoid)							139	134	136					1																	114380398		2203	4300	6503	SO:0001583	missense	26191				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:114380398G>A	AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9652	protein-coding gene	gene with protein product		600716	"protein tyrosine phosphatase, non-receptor type 8"	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.1624C>T	1.37:g.114380398G>A	ENSP00000352833:p.Pro542Ser					PTPN22_ENST00000538253.1_Missense_Mutation_p.P298S|PTPN22_ENST00000528414.1_Missense_Mutation_p.P487S|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000525799.1_Missense_Mutation_p.P415S|PTPN22_ENST00000420377.2_Missense_Mutation_p.P542S	p.P542S	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_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)	13	1759	-	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)	542					A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Missense_Mutation	SNP	ENST00000359785.5	37	c.1624C>T	CCDS863.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231022	0.39399	.	.	ENSG00000134242	ENST00000359785;ENST00000528414;ENST00000538253;ENST00000420377;ENST00000525799;ENST00000354605	T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02	5.96	5.06	0.68205	.	0.186873	0.38436	N	0.001686	T	0.66307	0.2776	M	0.62723	1.935	0.48830	D	0.999714	D;D;P;B;D;D	0.89917	1.0;1.0;0.925;0.379;0.98;0.997	D;D;P;B;P;P	0.91635	0.999;0.999;0.601;0.15;0.898;0.863	T	0.70234	-0.4928	10	0.51188	T	0.08	.	9.1097	0.36720	0.1634:0.0:0.8366:0.0	.	298;415;542;487;542;542	F5H2S8;E9PPI1;E9PMT0;E9PLD8;G5E984;Q9Y2R2	.;.;.;.;.;PTN22_HUMAN	S	542;487;298;542;415;542	ENSP00000352833:P542S;ENSP00000435176:P487S;ENSP00000439372:P298S;ENSP00000388229:P542S;ENSP00000432674:P415S	ENSP00000346621:P542S	P	-	1	0	PTPN22	114181921	0.994000	0.37717	0.956000	0.39512	0.327000	0.28475	0.996000	0.29719	1.539000	0.49286	0.655000	0.94253	CCA		0.393	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033015.1	NM_015967		5	66	0	0	0	1	0	5	66					A	114380398	G	A	114380398	3	1	164	1	0	0	0	0	1	0	0	0	12787	1174	41	2	858	2	PTPN22	1	114380398	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	68299585	114380398	134870223	4	3374											
INSRR	3645	broad.mit.edu	37	chr1	156821796	156821796	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctggcacagcgctcagctgtGacacagcgccaggactcata	11	14	2	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr1:156821796G>A	ENST00000368195.3	-	3	1221	c.825C>T	c.(823-825)gtC>gtT	p.V275V	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	275					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCTCAGCTGTGACACAGCGCC	0.657																																						ENST00000368195.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(823-825)gtC>gtT		insulin receptor-related receptor							26	24	25					1																	156821796		2203	4299	6502	SO:0001819	synonymous_variant	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156821796G>A	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"Fibronectin type III domain containing"	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.825C>T	1.37:g.156821796G>A						NTRK1_ENST00000392302.2_Intron	p.V275V	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN			3	1221	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		275					O60724|Q5VZS3	Silent	SNP	ENST00000368195.3	37	c.825C>T	CCDS1160.1																																																																																				0.657	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		5	35	0	0	0	1	0	5	35					A	156821796	G	A	156821796	2	1	164	1	0	0	0	0	0	0	0	1	7774	1277	45	2		2	INSRR	1	156821796	Silent	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	42441398	156821796	92428825	5	3375											
ANGPTL1	9068	broad.mit.edu	37	chr1	178820385	178820385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcctcctctgtaccatactCcatttaggttagaatgtgca	8	11	1	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr1:178820385C>T	ENST00000234816.2	-	6	1802	c.1355G>A	c.(1354-1356)gGa>gAa	p.G452E	RALGPS2_ENST00000367635.3_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.G452E|RALGPS2_ENST00000367634.2_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	452	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						GTACCATACTCCATTTAGGTT	0.438																																						ENST00000234816.2																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						c.(1354-1356)gGa>gAa		angiopoietin-like 1							166	149	155					1																	178820385		2203	4300	6503	SO:0001583	missense	9068					extracellular space	receptor binding	g.chr1:178820385C>T	AF107253	CCDS1327.1	1q25.2	2013-02-06			ENSG00000116194	ENSG00000116194		"Fibrinogen C domain containing"	489	protein-coding gene	gene with protein product	"angioarrestin"	603874		ANGPT3		10025962, 9286704	Standard	NM_004673		Approved	ANG3, AngY, ARP1	uc001gma.3	O95841	OTTHUMG00000035075	ENST00000234816.2:c.1355G>A	1.37:g.178820385C>T	ENSP00000234816:p.Gly452Glu					RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000367634.2_Intron|RALGPS2_ENST00000324778.4_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.G452E	p.G452E	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN			6	1802	-			452			Fibrinogen C-terminal.		Q5T5Z5	Missense_Mutation	SNP	ENST00000234816.2	37	c.1355G>A	CCDS1327.1	.	.	.	.	.	.	.	.	.	.	C	33	5.228456	0.95173	.	.	ENSG00000116194	ENST00000234816;ENST00000367629	D;D	0.94138	-3.36;-3.36	5.87	5.87	0.94306	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);Fibrinogen, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98346	0.9451	H	0.98646	4.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98866	1.0764	10	0.87932	D	0	.	20.1777	0.98189	0.0:1.0:0.0:0.0	.	452	O95841	ANGL1_HUMAN	E	452	ENSP00000234816:G452E;ENSP00000356601:G452E	ENSP00000234816:G452E	G	-	2	0	ANGPTL1	177087008	1.000000	0.71417	0.966000	0.40874	0.987000	0.75469	7.776000	0.85560	2.941000	0.99782	0.655000	0.94253	GGA		0.438	ANGPTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084924.1	NM_004673		6	76	0	0	0	1	0	6	76					T	178820385	C	T	178820385	3	4	164	1	0	0	0	0	1	0	0	0	613	855	30	2	124	2	ANGPTL1	1	178820385	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	21998589	178820385	70430236	6	3376											
ACTA1	58	broad.mit.edu	37	chr1	229567331	229567331	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tctgctggaaggtggacagcGaggccaggatggagccgccg	18	10	1	0			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr1:229567331G>C	ENST00000366684.3	-	7	1151	c.1049C>G	c.(1048-1050)tCg>tGg	p.S350W	ACTA1_ENST00000366683.2_Missense_Mutation_p.S262W	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	350			S -> L (in NEM3).		cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				GGTGGACAGCGAGGCCAGGAT	0.627																																						ENST00000366684.3																			0				endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	GRCh37	CM034515	ACTA1	M		c.(1048-1050)tCg>tGg		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)						90	89	90					1																	229567331		2203	4300	6503	SO:0001583	missense	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229567331G>C	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"nemaline myopathy type 3"	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.1049C>G	1.37:g.229567331G>C	ENSP00000355645:p.Ser350Trp					ACTA1_ENST00000366683.2_Missense_Mutation_p.S262W	p.S350W	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN			7	1151	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	350		S -> L (in NEM3).			P02568|P99020|Q5T8M9	Missense_Mutation	SNP	ENST00000366684.3	37	c.1049C>G	CCDS1578.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.818011	0.50633	.	.	ENSG00000143632	ENST00000366684;ENST00000308794;ENST00000366683;ENST00000366682;ENST00000342787	D;D	0.95588	-3.75;-3.75	3.89	3.89	0.44902	.	0.000000	0.85682	D	0.000000	D	0.98934	0.9638	H	0.99870	4.87	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98776	1.0730	10	0.87932	D	0	.	16.4141	0.83728	0.0:0.0:1.0:0.0	.	350	P68133	ACTS_HUMAN	W	350;260;262;315;227	ENSP00000355645:S350W;ENSP00000355644:S262W	ENSP00000312351:S260W	S	-	2	0	ACTA1	227633954	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.540000	0.98080	2.163000	0.67991	0.563000	0.77884	TCG		0.627	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		11	194	0	0	0	1	0	11	194					C	229567331	G	C	229567331	3	2	164	1	0	0	0	0	1	0	0	0	191	1059	37	4	88	4	ACTA1	1	229567331	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	50746946	229567331	19683290	7	3377											
FBXO11	80204	broad.mit.edu	37	chr2	48040983	48040983	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctccccagattttgttgcgtCtaattttggggttgcttcca	9	10	1	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr2:48040983C>G	ENST00000403359.3	-	17	2102	c.2030G>C	c.(2029-2031)aGa>aCa	p.R677T	FBXO11_ENST00000434523.2_Missense_Mutation_p.R101T|FBXO11_ENST00000402508.1_Missense_Mutation_p.R593T|FBXO11_ENST00000316377.4_Missense_Mutation_p.R593T	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	677					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTTGTTGCGTCTAATTTTGGG	0.348			"Mis, F, D"		DLBCL																																	ENST00000403359.3				Rec	yes		2	2p16.3	80204	"Mis, F, D"	F-box protein 11			L			DLBCL		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(2029-2031)aGa>aCa		F-box protein 11							126	124	125					2																	48040983		2202	4300	6502	SO:0001583	missense	80204				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:48040983C>G	AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"Ubiquitin protein ligase E3 component n-recognins", "F-boxes /  "other""	13590	protein-coding gene	gene with protein product	"ubiquitin protein ligase E3 component n-recognin 6"	607871	"F-box only protein 11"			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.2030G>C	2.37:g.48040983C>G	ENSP00000384823:p.Arg677Thr					FBXO11_ENST00000402508.1_Missense_Mutation_p.R593T|FBXO11_ENST00000316377.4_Missense_Mutation_p.R593T|FBXO11_ENST00000434523.2_Missense_Mutation_p.R101T	p.R677T	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		17	2102	-		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	677					A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Missense_Mutation	SNP	ENST00000403359.3	37	c.2030G>C	CCDS54357.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.041062|4.041062	0.75732|0.75732	.|.	.|.	ENSG00000138081|ENSG00000138081	ENST00000402508;ENST00000403359;ENST00000316377;ENST00000434523|ENST00000493962	T;T;T;T|.	0.79653|.	-1.29;-1.29;-1.29;-1.29|.	5.43|5.43	5.43|5.43	0.79202|0.79202	Pectin lyase fold/virulence factor (2);Carbohydrate-binding/sugar hydrolysis domain (1);F-box domain, Skp2-like (1);Pectin lyase fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.67258|.	0.2874|.	L|L	0.39692|0.39692	1.235|1.235	0.80722|0.80722	D|D	1|1	B;P|.	0.34699|.	0.213;0.464|.	B;P|.	0.45406|.	0.262;0.479|.	T|.	0.61729|.	-0.7003|.	10|.	0.15066|.	T|.	0.55|.	-0.4741|-0.4741	19.5994|19.5994	0.95554|0.95554	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	101;677|.	B3KUR1;Q86XK2|.	.;FBX11_HUMAN|.	T|Y	593;677;593;101|468	ENSP00000385398:R593T;ENSP00000384823:R677T;ENSP00000323822:R593T;ENSP00000397359:R101T|.	ENSP00000323822:R593T|.	R|X	-|-	2|3	0|2	FBXO11|FBXO11	47894487|47894487	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.776000|7.776000	0.85560|0.85560	2.699000|2.699000	0.92147|0.92147	0.655000|0.655000	0.94253|0.94253	AGA|TAG		0.348	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133		6	34	0	0	0	1	0	6	34					G	48040983	C	G	48040983	3	3	164	1	0	0	0	0	1	0	0	0	5727	913	32	4	867	4	FBXO11	2	48040983	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08		48040983	195158390	8	3378											
ERCC3	2071	broad.mit.edu	37	chr2	128036808	128036808	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttgtcagcaaagacaataatCttgtcattcctcctttcatg	5	10	4	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr2:128036808C>G	ENST00000285398.2	-	10	1765	c.1671G>C	c.(1669-1671)aaG>aaC	p.K557N	ERCC3_ENST00000493187.2_Missense_Mutation_p.K493N	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	557	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|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 initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		AGACAATAATCTTGTCATTCC	0.398			"Mis, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000493187.2			yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"Mis, S"	"excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"			E		"skin basal cell, skin squamous cell, melanoma"			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31						c.(1477-1479)aaG>aaC	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 3							138	122	128					2																	128036808		2203	4300	6503	SO:0001583	missense	2071	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	g.chr2:128036808C>G	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"General transcription factors", "General transcription factor IIH complex subunits"	3435	protein-coding gene	gene with protein product	"xeroderma pigmentosum group B complementing"	133510	"excision repair cross-complementing rodent repair deficiency, complementation group 3"			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.1671G>C	2.37:g.128036808C>G	ENSP00000285398:p.Lys557Asn					ERCC3_ENST00000285398.2_Missense_Mutation_p.K557N	p.K493N			P19447	ERCC3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	10	1942	-	Colorectal(110;0.1)		557					Q53QM0	Missense_Mutation	SNP	ENST00000285398.2	37	c.1479G>C	CCDS2144.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.653280	0.67472	.	.	ENSG00000163161	ENST00000285398;ENST00000493187	T;T	0.80994	-1.44;-1.44	5.1	3.32	0.38043	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91171	0.7219	H	0.95328	3.655	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	D	0.91222	0.5007	10	0.87932	D	0	-30.7812	9.585	0.39510	0.0:0.7543:0.0:0.2457	.	557	P19447	ERCC3_HUMAN	N	557;493	ENSP00000285398:K557N;ENSP00000444796:K493N	ENSP00000285398:K557N	K	-	3	2	ERCC3	127753278	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.609000	0.36858	0.747000	0.32809	0.591000	0.81541	AAG		0.398	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122		5	29	0	0	0	1	0	5	29					G	128036808	C	G	128036808	3	3	164	1	0	0	0	0	1	0	0	0	5214	912	32	4	701	4	ERCC3	2	128036808	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	79995825	128036808	115162565	9	3379											
SMPD4	55627	broad.mit.edu	37	chr2	130910385	130910385	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctgctggccagcccaggttCtgtgaggtggtagcgacaga	15	11	1	2			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr2:130910385C>T	ENST00000409031.1	-	20	3492	c.2344G>A	c.(2344-2346)Gaa>Aaa	p.E782K	SMPD4_ENST00000351288.6_Missense_Mutation_p.E753K|SMPD4_ENST00000443958.2_Missense_Mutation_p.E446K|SMPD4_ENST00000431183.2_Missense_Mutation_p.E680K|SMPD4_ENST00000453750.1_Missense_Mutation_p.E531K|SMPD4_ENST00000426662.2_Missense_Mutation_p.E418K|SMPD4_ENST00000339679.7_Missense_Mutation_p.E640K|SMPD4_ENST00000452225.2_Missense_Mutation_p.E523K	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	743					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	AGCCCAGGTTCTGTGAGGTGG	0.672																																						ENST00000409031.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(2344-2346)Gaa>Aaa		sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	Phosphatidylserine(DB00144)						13	15	14					2																	130910385		2192	4278	6470	SO:0001583	missense	55627				sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity	g.chr2:130910385C>T	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.2344G>A	2.37:g.130910385C>T	ENSP00000386531:p.Glu782Lys					SMPD4_ENST00000431183.2_Missense_Mutation_p.E680K|SMPD4_ENST00000453750.1_Missense_Mutation_p.E531K|SMPD4_ENST00000339679.7_Missense_Mutation_p.E640K|SMPD4_ENST00000351288.6_Missense_Mutation_p.E753K|SMPD4_ENST00000426662.2_Missense_Mutation_p.E418K|SMPD4_ENST00000443958.2_Missense_Mutation_p.E446K|SMPD4_ENST00000452225.2_Missense_Mutation_p.E523K	p.E782K	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN			20	3492	-	Colorectal(110;0.1)		743					B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Missense_Mutation	SNP	ENST00000409031.1	37	c.2344G>A	CCDS42751.1	.	.	.	.	.	.	.	.	.	.	.	10.78	1.446959	0.25987	.	.	ENSG00000136699	ENST00000351288;ENST00000409031;ENST00000431183;ENST00000453750;ENST00000443958;ENST00000339679;ENST00000452225;ENST00000426662;ENST00000457039	.	.	.	4.08	4.08	0.47627	.	0.413631	0.27961	N	0.017160	T	0.51381	0.1671	L	0.47716	1.5	0.26457	N	0.975503	P;P;D;D;P;D;P;P;D;P	0.69078	0.481;0.865;0.997;0.997;0.879;0.971;0.481;0.622;0.99;0.865	B;B;P;P;B;P;B;B;D;B	0.72982	0.217;0.327;0.85;0.793;0.327;0.717;0.164;0.164;0.979;0.399	T	0.43621	-0.9380	9	0.08381	T	0.77	.	13.7784	0.63069	0.0:1.0:0.0:0.0	.	418;523;680;640;531;714;743;782;789;314	B4E0L6;B4DQ31;E7ESA2;B4E0T5;B4DM23;Q9NXE4-2;Q9NXE4;B1PBA3;Q9NXE4-4;Q9NXE4-5	.;.;.;.;.;.;NSMA3_HUMAN;.;.;.	K	753;782;680;531;446;640;523;418;292	.	ENSP00000339721:E640K	E	-	1	0	SMPD4	130626855	0.020000	0.18652	0.422000	0.26621	0.462000	0.32619	0.673000	0.25203	1.797000	0.52628	0.455000	0.32223	GAA		0.672	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254516.3	NM_017751		3	12	0	0	0	1	0	3	12					T	130910385	C	T	130910385	3	4	164	1	0	0	0	0	1	0	0	0	14807	922	32	2	260	2	SMPD4	2	130910385	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	2873577	130910385	112288988	10	3380											
IRS1	3667	broad.mit.edu	37	chr2	227662792	227662792	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaacggcccacctcgatgaaGaagaagttttccgagtggcc	12	11	0	3			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr2:227662792G>A	ENST00000305123.5	-	1	1683	c.663C>T	c.(661-663)ttC>ttT	p.F221F	IRS1_ENST00000498335.1_5'Flank|RP11-395N3.2_ENST00000607970.1_lincRNA	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	221	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CCTCGATGAAGAAGAAGTTTT	0.607											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(661-663)ttC>ttT		insulin receptor substrate 1							77	84	82					2																	227662792		2203	4300	6503	SO:0001819	synonymous_variant	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227662792G>A		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.663C>T	2.37:g.227662792G>A			OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.F221F	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	1683	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	221			IRS-type PTB.			Silent	SNP	ENST00000305123.5	37	c.663C>T	CCDS2463.1																																																																																				0.607	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		9	114	0	0	0	1	0	9	114					A	227662792	G	A	227662792	2	1	164	1	0	0	0	0	0	0	0	1	7840	933	33	2		2	IRS1	2	227662792	Silent	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	96752407	227662792	15536581	11	3381											
ITPR1	3708	broad.mit.edu	37	chr3	4715019	4715019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggaacaagtcacccccGtgaaatatgcccgcctctgg	9	16	2	1	rs369080877		TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr3:4715019G>A	ENST00000443694.2	+	18	2359	c.2359G>A	c.(2359-2361)Gtg>Atg	p.V787M	ITPR1_ENST00000357086.4_Missense_Mutation_p.V802M|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Missense_Mutation_p.V787M|ITPR1_ENST00000354582.6_Missense_Mutation_p.V802M|ITPR1_ENST00000423119.2_Missense_Mutation_p.V802M|ITPR1_ENST00000456211.2_Missense_Mutation_p.V787M			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	802					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	AGTCACCCCCGTGAAATATGC	0.562																																						ENST00000302640.8																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(2359-2361)Gtg>Atg		inositol 1,4,5-trisphosphate receptor, type 1		G	MET/VAL,MET/VAL,MET/VAL	0,3922		0,0,1961	90	96	94		2404,2359,2359	5.0	1.0	3		94	2,8300		0,2,4149	no	missense,missense,missense	ITPR1	NM_001099952.2,NM_001168272.1,NM_002222.5	21,21,21	0,2,6110	AA,AG,GG		0.0241,0.0,0.0164	probably-damaging,probably-damaging,probably-damaging	802/2711,787/2744,787/2696	4715019	2,12222	1961	4151	6112	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4715019G>A	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.2359G>A	3.37:g.4715019G>A	ENSP00000401671:p.Val787Met					ITPR1_ENST00000443694.2_Missense_Mutation_p.V787M|ITPR1_ENST00000423119.2_Missense_Mutation_p.V802M|ITPR1_ENST00000357086.4_Missense_Mutation_p.V802M|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.V787M|ITPR1_ENST00000354582.6_Missense_Mutation_p.V802M	p.V787M	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	20	2709	+			802					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.2359G>A	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	32	5.110476	0.94292	0.0	2.41E-4	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.92805	-3.11;-3.11;-3.1;-3.1;-3.1;-3.11	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.96546	0.8873	M	0.87547	2.89	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.989;0.996;0.995	D	0.96466	0.9345	10	0.54805	T	0.06	.	18.3862	0.90468	0.0:0.0:1.0:0.0	.	787;802;802	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	M	802;787;802;802;802;787;787	ENSP00000306253:V787M;ENSP00000346595:V802M;ENSP00000405934:V802M;ENSP00000349597:V802M;ENSP00000397885:V787M;ENSP00000401671:V787M	ENSP00000306253:V787M	V	+	1	0	ITPR1	4690019	1.000000	0.71417	0.968000	0.41197	0.971000	0.66376	9.511000	0.98006	2.739000	0.93911	0.491000	0.48974	GTG		0.562	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		12	124	0	0	0	1	0	12	124					A	4715019	G	A	4715019	3	1	164	1	0	0	0	0	1	0	0	0	7920	1145	40	1	2478	1	ITPR1	3	4715019	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08		4715019	193307411	12	3382											
EDEM1	9695	broad.mit.edu	37	chr3	5244672	5244672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaatctaaagacaggagttCctcctgacaccaataatgag	8	9	1	4			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr3:5244672C>T	ENST00000256497.4	+	5	1013	c.880C>T	c.(880-882)Cct>Tct	p.P294S	EDEM1_ENST00000445686.1_Missense_Mutation_p.P99S	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	294					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	calcium ion binding (GO:0005509)|misfolded protein binding (GO:0051787)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		GACAGGAGTTCCTCCTGACAC	0.512																																						ENST00000256497.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(880-882)Cct>Tct		ER degradation enhancer, mannosidase alpha-like 1							73	74	74					3																	5244672		2203	4300	6503	SO:0001583	missense	9695				ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr3:5244672C>T	D86967	CCDS33686.1	3p26.1	2008-02-05			ENSG00000134109	ENSG00000134109			18967	protein-coding gene	gene with protein product		607673				12610306	Standard	NM_014674		Approved	KIAA0212, EDEM	uc003bqi.3	Q92611	OTTHUMG00000154896	ENST00000256497.4:c.880C>T	3.37:g.5244672C>T	ENSP00000256497:p.Pro294Ser					EDEM1_ENST00000445686.1_Missense_Mutation_p.P99S	p.P294S	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN		Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)	5	1013	+			294					A8K9C8|B4DXP3	Missense_Mutation	SNP	ENST00000256497.4	37	c.880C>T	CCDS33686.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803374	0.31869	.	.	ENSG00000134109	ENST00000419550;ENST00000256497;ENST00000445686	T;T	0.71341	-0.56;-0.56	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.67002	0.2847	L	0.48642	1.525	0.80722	D	1	B;B;B	0.23058	0.079;0.037;0.008	B;B;B	0.25405	0.029;0.06;0.034	T	0.61387	-0.7073	10	0.25751	T	0.34	-20.6571	19.2502	0.93921	0.0:1.0:0.0:0.0	.	99;294;72	B4DXP3;Q92611;B4DPV5	.;EDEM1_HUMAN;.	S	72;294;99	ENSP00000256497:P294S;ENSP00000394099:P99S	ENSP00000256497:P294S	P	+	1	0	EDEM1	5219672	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	7.349000	0.79376	2.532000	0.85374	0.650000	0.86243	CCT		0.512	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337566.2	NM_014674		7	76	0	0	0	1	0	7	76					T	5244672	C	T	5244672	3	4	164	1	0	0	0	0	1	0	0	0	4911	855	30	2	898	2	EDEM1	3	5244672	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	529653	5244672	192777758	13	3383											
NPRL2	10641	broad.mit.edu	37	chr3	50386439	50386439	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caagtggatggtgttggactCatctgcagggggccccatcc	14	11	2	0			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr3:50386439C>T	ENST00000232501.3	-	5	889	c.451G>A	c.(451-453)Gag>Aag	p.E151K	CYB561D2_ENST00000424512.1_5'Flank|NPRL2_ENST00000493465.1_5'Flank|CYB561D2_ENST00000418577.1_5'Flank|CYB561D2_ENST00000232508.5_5'Flank|XXcos-LUCA11.5_ENST00000606589.1_5'Flank|CYB561D2_ENST00000425346.1_5'Flank|ZMYND10_ENST00000231749.3_5'Flank	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN	nitrogen permease regulator-like 2 (S. cerevisiae)	151					negative regulation of kinase activity (GO:0033673)|protein phosphorylation (GO:0006468)		GTPase activator activity (GO:0005096)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						GTGTTGGACTCATCTGCAGGG	0.557																																						ENST00000232501.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						c.(451-453)Gag>Aag		nitrogen permease regulator-like 2 (S. cerevisiae)							74	77	76					3																	50386439		2203	4300	6503	SO:0001583	missense	10641				negative regulation of kinase activity		protein binding|protein kinase activity	g.chr3:50386439C>T	AF040708	CCDS2826.1	3p21.3	2010-03-30	2010-03-30	2010-03-30	ENSG00000114388	ENSG00000114388			24969	protein-coding gene	gene with protein product		607072	"tumor suppressor candidate 4"	TUSC4		11085536	Standard	NM_006545		Approved	NPR2L, NPR2	uc003daj.1	Q8WTW4	OTTHUMG00000156864	ENST00000232501.3:c.451G>A	3.37:g.50386439C>T	ENSP00000232501:p.Glu151Lys						p.E151K	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN			5	889	-			151					A8K831|Q6FGS2|Q9Y249|Q9Y497	Missense_Mutation	SNP	ENST00000232501.3	37	c.451G>A	CCDS2826.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.572115	0.86542	.	.	ENSG00000114388	ENST00000232501	.	.	.	5.58	5.58	0.84498	.	0.087462	0.85682	D	0.000000	T	0.67268	0.2875	M	0.62088	1.915	0.80722	D	1	B	0.23990	0.095	B	0.31101	0.124	T	0.62286	-0.6886	9	0.16420	T	0.52	-3.596	19.5689	0.95404	0.0:1.0:0.0:0.0	.	151	Q8WTW4	NPRL2_HUMAN	K	151	.	ENSP00000232501:E151K	E	-	1	0	NPRL2	50361443	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.748000	0.85085	2.626000	0.88956	0.655000	0.94253	GAG		0.557	NPRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346299.1	NM_006545		9	101	0	0	0	1	0	9	101					T	50386439	C	T	50386439	3	4	164	1	0	0	0	0	1	0	0	0	10597	835	29	2	719	2	NPRL2	3	50386439	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	45141767	50386439	147635991	14	3384											
ALAS1	211	broad.mit.edu	37	chr3	52238848	52238848	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatgactattcagactccctCatcaccaaaaagcaagtgtc	6	12	3	2			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr3:52238848C>T	ENST00000394965.2	+	6	1077	c.717C>T	c.(715-717)ctC>ctT	p.L239L	ALAS1_ENST00000484952.1_Silent_p.L239L|ALAS1_ENST00000469224.1_Silent_p.L239L|ALAS1_ENST00000310271.2_Silent_p.L239L	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	239					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	CAGACTCCCTCATCACCAAAA	0.473																																						ENST00000394965.2																			0				endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23						c.(715-717)ctC>ctT		aminolevulinate, delta-, synthase 1	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						92	88	89					3																	52238848		2203	4300	6503	SO:0001819	synonymous_variant	211				heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr3:52238848C>T	X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.717C>T	3.37:g.52238848C>T						ALAS1_ENST00000469224.1_Silent_p.L239L|ALAS1_ENST00000310271.2_Silent_p.L239L|ALAS1_ENST00000484952.1_Silent_p.L239L	p.L239L	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	6	1077	+			239						Silent	SNP	ENST00000394965.2	37	c.717C>T	CCDS2847.1																																																																																				0.473	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1			7	91	0	0	0	1	0	7	91					T	52238848	C	T	52238848	2	4	164	1	0	0	0	0	0	0	0	1	484	813	29	2		2	ALAS1	3	52238848	Silent	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	1852409	52238848	145783582	15	3385											
PARP14	54625	broad.mit.edu	37	chr3	122437591	122437591	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gaatcccgggcagattgtatCagtgagtttatagaatggca	12	6	1	3			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr3:122437591C>G	ENST00000474629.2	+	14	4859	c.4593C>G	c.(4591-4593)atC>atG	p.I1531M	PARP14_ENST00000475640.1_3'UTR	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1531	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CAGATTGTATCAGTGAGTTTA	0.388																																						ENST00000474629.2																			0				NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.(4591-4593)atC>atG		poly (ADP-ribose) polymerase family, member 14							186	184	185					3																	122437591		1872	4113	5985	SO:0001583	missense	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122437591C>G	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.4593C>G	3.37:g.122437591C>G	ENSP00000418194:p.Ile1531Met					PARP14_ENST00000475640.1_3'UTR	p.I1531M	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	14	4859	+			1531			WWE.		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	c.4593C>G	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.637149	0.29157	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000310290;ENST00000398157	T	0.31769	1.48	5.05	-1.38	0.09027	WWE domain (1);	0.792551	0.11408	N	0.567081	T	0.21921	0.0528	L	0.48362	1.52	0.09310	N	1	P;P	0.42735	0.571;0.788	B;B	0.42343	0.121;0.384	T	0.12863	-1.0531	10	0.40728	T	0.16	.	0.9815	0.01437	0.2336:0.366:0.1142:0.2862	.	1531;1531	Q460N5-4;Q460N5	.;PAR14_HUMAN	M	1531;1450;134;527	ENSP00000418194:I1531M	ENSP00000310633:I134M	I	+	3	3	PARP14	123920281	0.000000	0.05858	0.017000	0.16124	0.958000	0.62258	0.077000	0.14738	-0.157000	0.11059	-0.145000	0.13849	ATC		0.388	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		6	159	0	0	0	1	0	6	159					G	122437591	C	G	122437591	3	3	164	1	0	0	0	0	1	0	0	0	11458	816	29	4	4647	4	PARP14	3	122437591	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	70198743	122437591	75584839	16	3386											
AADACL2	344752	broad.mit.edu	37	chr3	151475099	151475099	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcttggaggacttagttattCattgccaggacttacagaca	9	8	2	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr3:151475099C>T	ENST00000356517.3	+	5	1032	c.923C>T	c.(922-924)tCa>tTa	p.S308L	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	308						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CTTAGTTATTCATTGCCAGGA	0.363																																						ENST00000356517.3																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24						c.(922-924)tCa>tTa		arylacetamide deacetylase-like 2							133	133	133					3																	151475099		2203	4298	6501	SO:0001583	missense	344752					extracellular region|integral to membrane	carboxylesterase activity	g.chr3:151475099C>T	BC065724	CCDS3161.2	3q25.1	2010-12-14			ENSG00000197953	ENSG00000197953			24427	protein-coding gene	gene with protein product							Standard	NM_207365		Approved	MGC72001	uc003ezc.3	Q6P093	OTTHUMG00000155914	ENST00000356517.3:c.923C>T	3.37:g.151475099C>T	ENSP00000348911:p.Ser308Leu					RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	p.S308L	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		5	1032	+			308					Q5HYJ4	Missense_Mutation	SNP	ENST00000356517.3	37	c.923C>T	CCDS3161.2	.	.	.	.	.	.	.	.	.	.	C	14.71	2.615437	0.46631	.	.	ENSG00000197953	ENST00000356517	T	0.04234	3.67	5.01	3.13	0.36017	.	0.758589	0.12382	N	0.473814	T	0.09730	0.0239	M	0.79693	2.465	0.09310	N	1	B	0.21452	0.056	B	0.30646	0.118	T	0.16928	-1.0386	10	0.59425	D	0.04	-6.1238	6.3254	0.21240	0.18:0.7249:0.0:0.0952	.	308	Q6P093	ADCL2_HUMAN	L	308	ENSP00000348911:S308L	ENSP00000348911:S308L	S	+	2	0	AADACL2	152957789	0.000000	0.05858	0.009000	0.14445	0.387000	0.30353	0.151000	0.16283	1.351000	0.45789	0.591000	0.81541	TCA		0.363	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342288.3	NM_207365		8	105	0	0	0	1	0	8	105					T	151475099	C	T	151475099	3	4	164	1	0	0	0	0	1	0	0	0	11	838	29	2	941	2	AADACL2	3	151475099	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	29037508	151475099	46547331	17	3387											
CD38	952	broad.mit.edu	37	chr4	15780234	15780234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcccgagaccgtcctggcgcGatgcgtcaagtacactgaaa	11	13	1	2			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr4:15780234G>A	ENST00000226279.3	+	1	334	c.197G>A	c.(196-198)cGa>cAa	p.R66Q		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	66					apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|female pregnancy (GO:0007565)|long term synaptic depression (GO:0060292)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone resorption (GO:0045779)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hydroperoxide (GO:0033194)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|phosphorus-oxygen lyase activity (GO:0016849)|transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						GTCCTGGCGCGATGCGTCAAG	0.672																																						ENST00000226279.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						c.(196-198)cGa>cAa		CD38 molecule							70	72	71					4																	15780234		2203	4300	6503	SO:0001583	missense	952				B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity	g.chr4:15780234G>A	D84276	CCDS3417.1	4p15.32	2010-05-04	2006-03-28		ENSG00000004468	ENSG00000004468	3.2.2.5	"CD molecules"	1667	protein-coding gene	gene with protein product	"ADP-ribosyl cyclase 1", "NAD(+) nucleosidase"	107270	"CD38 antigen (p45)"			9074508, 2319135	Standard	NM_001775		Approved		uc003gol.1	P28907	OTTHUMG00000048206	ENST00000226279.3:c.197G>A	4.37:g.15780234G>A	ENSP00000226279:p.Arg66Gln						p.R66Q	NM_001775.2	NP_001766.2	P28907	CD38_HUMAN			1	334	+			66					O00121|O00122|Q96HY4	Missense_Mutation	SNP	ENST00000226279.3	37	c.197G>A	CCDS3417.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.461937	0.63513	.	.	ENSG00000004468	ENST00000226279;ENST00000540195	T	0.24151	1.87	2.98	2.98	0.34508	.	0.065284	0.64402	D	0.000016	T	0.50667	0.1629	M	0.84948	2.725	0.22330	N	0.999191	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.34229	-0.9837	10	0.87932	D	0	.	9.6733	0.40026	0.0:0.0:1.0:0.0	.	66;66	P28907;B2R880	CD38_HUMAN;.	Q	66	ENSP00000226279:R66Q	ENSP00000226279:R66Q	R	+	2	0	CD38	15389332	0.265000	0.24102	0.027000	0.17364	0.009000	0.06853	3.075000	0.50073	1.990000	0.58119	0.462000	0.41574	CGA		0.672	CD38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250322.2	NM_001775		11	62	0	0	0	1	0	11	62					A	15780234	G	A	15780234	3	1	164	1	0	0	0	0	1	0	0	0	3009	1058	37	1	199	1	CD38	4	15780234	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08		15780234	175374042	18	3388											
MUC7	4589	broad.mit.edu	37	chr4	71346814	71346814	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tccatctgtgactttcccatCagcttccaccaaaattacta	3	14	2	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr4:71346814C>G	ENST00000304887.5	+	3	543	c.353C>G	c.(352-354)tCa>tGa	p.S118*	MUC7_ENST00000456088.1_Nonsense_Mutation_p.S118*|MUC7_ENST00000413702.1_Nonsense_Mutation_p.S118*|MUC7_ENST00000514512.1_3'UTR	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	118	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACTTTCCCATCAGCTTCCACC	0.428																																						ENST00000413702.1																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(352-354)tCa>tGa		mucin 7, secreted							122	115	118					4																	71346814		2203	4300	6503	SO:0001587	stop_gained	4589					extracellular region	protein binding	g.chr4:71346814C>G	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"Mucins"	7518	protein-coding gene	gene with protein product		158375	"mucin 7, salivary"			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.353C>G	4.37:g.71346814C>G	ENSP00000302021:p.Ser118*					MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Nonsense_Mutation_p.S118*|MUC7_ENST00000304887.5_Nonsense_Mutation_p.S118*	p.S118*	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	641	+			118			Thr-rich.		Q9UCD7|Q9UCD8	Nonsense_Mutation	SNP	ENST00000304887.5	37	c.353C>G	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177292	0.57692	.	.	ENSG00000171195	ENST00000413702;ENST00000505411;ENST00000456088;ENST00000304887	.	.	.	3.44	2.57	0.30868	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-2.6315	10.1996	0.43075	0.2007:0.7993:0.0:0.0	.	.	.	.	X	118	.	ENSP00000302021:S118X	S	+	2	0	MUC7	71381403	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	1.245000	0.32790	0.991000	0.38814	-0.181000	0.13052	TCA		0.428	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		5	69	0	0	0	1	0	5	69					G	71346814	C	G	71346814	4	3	164	1	0	0	0	0	0	1	0	0	9981	838	29	4	359	4	MUC7	4	71346814	Nonsense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	55566580	71346814	119807462	19	3389											
PRDM8	56978	broad.mit.edu	37	chr4	81122505	81122505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggctgcggttggtccaatCggccagagataaggaagagc	16	8	0	2	rs368720297		TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr4:81122505C>T	ENST00000504452.1	+	7	1120	c.281C>T	c.(280-282)tCg>tTg	p.S94L	PRDM8_ENST00000339711.4_Missense_Mutation_p.S94L|PRDM8_ENST00000415738.2_Missense_Mutation_p.S94L			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	94	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						TTGGTCCAATCGGCCAGAGAT	0.483																																						ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(280-282)tCg>tTg		PR domain containing 8							52	54	53					4																	81122505		1896	4111	6007	SO:0001583	missense	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81122505C>T	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.281C>T	4.37:g.81122505C>T	ENSP00000423985:p.Ser94Leu					PRDM8_ENST00000415738.2_Missense_Mutation_p.S94L|PRDM8_ENST00000504452.1_Missense_Mutation_p.S94L	p.S94L	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN			9	1512	+			94			SET.		A8K7X2|Q6IQ36	Missense_Mutation	SNP	ENST00000504452.1	37	c.281C>T	CCDS43243.1	.	.	.	.	.	.	.	.	.	.	C	34	5.383814	0.95967	.	.	ENSG00000152784	ENST00000504452;ENST00000515013;ENST00000339711;ENST00000415738	T;T;T;T	0.64085	-0.08;0.5;-0.08;-0.08	5.98	5.98	0.97165	SET domain (1);	0.000000	0.85682	D	0.000000	T	0.69602	0.3129	L	0.35644	1.08	0.80722	D	1	D	0.67145	0.996	P	0.57548	0.823	T	0.69989	-0.4995	10	0.62326	D	0.03	.	20.0665	0.97706	0.0:1.0:0.0:0.0	.	94	Q9NQV8	PRDM8_HUMAN	L	94	ENSP00000423985:S94L;ENSP00000425149:S94L;ENSP00000339764:S94L;ENSP00000406998:S94L	ENSP00000339764:S94L	S	+	2	0	PRDM8	81341529	0.999000	0.42202	0.995000	0.50966	0.571000	0.35966	7.775000	0.85489	2.847000	0.97988	0.591000	0.81541	TCG		0.483	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			8	33	0	0	0	1	0	8	33					T	81122505	C	T	81122505	3	4	164	1	0	0	0	0	1	0	0	0	12462	893	31	1	287	1	PRDM8	4	81122505	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	9775691	81122505	110031771	20	3390											
NNT	23530	broad.mit.edu	37	chr5	43616136	43616136	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcacaattgctcagggatatGatgcgctaagctccatggcc	10	11	2	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr5:43616136G>A	ENST00000264663.5	+	4	789	c.568G>A	c.(568-570)Gat>Aat	p.D190N	NNT_ENST00000512996.2_Missense_Mutation_p.D59N|NNT_ENST00000344920.4_Missense_Mutation_p.D190N	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	190					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					TCAGGGATATGATGCGCTAAG	0.443																																						ENST00000264663.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(568-570)Gat>Aat		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						106	108	107					5																	43616136		2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43616136G>A	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.568G>A	5.37:g.43616136G>A	ENSP00000264663:p.Asp190Asn					NNT_ENST00000344920.4_Missense_Mutation_p.D190N|NNT_ENST00000512996.2_Missense_Mutation_p.D59N	p.D190N	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN			4	789	+	Lung NSC(6;2.58e-06)		190					Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.568G>A	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	G	36	5.935334	0.97122	.	.	ENSG00000112992	ENST00000505678;ENST00000512422;ENST00000264663;ENST00000344920;ENST00000512996	T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28	5.66	5.66	0.87406	Alanine dehydrogenase/PNT, N-terminal (1);	0.093608	0.64402	D	0.000001	D	0.93400	0.7895	H	0.96489	3.83	0.80722	D	1	D	0.67145	0.996	D	0.72625	0.978	D	0.94949	0.8098	10	0.87932	D	0	-13.817	19.7973	0.96491	0.0:0.0:1.0:0.0	.	190	Q13423	NNTM_HUMAN	N	190;190;190;190;59	ENSP00000427670:D190N;ENSP00000421886:D190N;ENSP00000264663:D190N;ENSP00000343873:D190N;ENSP00000426343:D59N	ENSP00000264663:D190N	D	+	1	0	NNT	43651893	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.589000	0.98235	2.673000	0.90976	0.650000	0.86243	GAT		0.443	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		9	83	0	0	0	1	0	9	83					A	43616136	G	A	43616136	3	1	164	1	0	0	0	0	1	0	0	0	10510	1290	45	2	578	2	NNT	5	43616136	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08		43616136	137299124	21	3391											
BNIP1	662	broad.mit.edu	37	chr5	172573902	172573902	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gttcaggacccttaagtgctCttactgaactgaatactaaa	7	9	2	2			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr5:172573902C>G	ENST00000351486.5	+	2	149	c.118C>G	c.(118-120)Ctt>Gtt	p.L40V	BNIP1_ENST00000352523.6_Missense_Mutation_p.L40V|CTC-209H22.3_ENST00000521251.1_RNA|BNIP1_ENST00000393770.4_Missense_Mutation_p.L40V|BNIP1_ENST00000231668.9_Missense_Mutation_p.L40V	NM_001205.2	NP_001196.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	40					apoptotic process (GO:0006915)|autophagy (GO:0006914)|endoplasmic reticulum membrane fusion (GO:0016320)|endoplasmic reticulum organization (GO:0007029)|execution phase of apoptosis (GO:0097194)|negative regulation of apoptotic process (GO:0043066)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CTTAAGTGCTCTTACTGAACT	0.408																																						ENST00000231668.9																			0				breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11						c.(118-120)Ctt>Gtt		BCL2/adenovirus E1B 19kDa interacting protein 1							89	82	85					5																	172573902		2203	4300	6503	SO:0001583	missense	662				anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding	g.chr5:172573902C>G	AF083957	CCDS4384.1, CCDS4385.1, CCDS4386.1, CCDS43400.1	5q33-q34	2008-02-05	2002-08-29		ENSG00000113734	ENSG00000113734			1082	protein-coding gene	gene with protein product		603291	"BCL2/adenovirus E1B 19kD-interacting protein 1"			7954800, 15272311	Standard	NM_013979		Approved	Nip1, SEC20	uc003mcj.4	Q12981	OTTHUMG00000130521	ENST00000351486.5:c.118C>G	5.37:g.172573902C>G	ENSP00000239215:p.Leu40Val					BNIP1_ENST00000352523.6_Missense_Mutation_p.L40V|BNIP1_ENST00000351486.5_Missense_Mutation_p.L40V|BNIP1_ENST00000393770.4_Missense_Mutation_p.L40V	p.L40V	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	222	+	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	40					D3DQM3|D3DQM4|D3DQM5|D3DQM6|O75622|O75623|O75624|Q6K044|Q96FG4	Missense_Mutation	SNP	ENST00000351486.5	37	c.118C>G	CCDS4384.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005798	0.74932	.	.	ENSG00000113734	ENST00000231668;ENST00000351486;ENST00000352523;ENST00000393770	T;T;T;T	0.68765	-0.35;0.55;-0.09;0.55	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.83825	0.5338	M	0.83483	2.645	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.983;1.0	D;D;P;D	0.85130	0.997;0.97;0.656;0.996	D	0.85116	0.0966	10	0.56958	D	0.05	.	19.0021	0.92838	0.0:1.0:0.0:0.0	.	40;40;40;40	Q12981-2;Q12981-3;Q12981;Q12981-1	.;.;SEC20_HUMAN;.	V	40	ENSP00000231668:L40V;ENSP00000239215:L40V;ENSP00000239214:L40V;ENSP00000377365:L40V	ENSP00000231668:L40V	L	+	1	0	BNIP1	172506508	0.997000	0.39634	0.747000	0.31113	0.803000	0.45373	4.066000	0.57520	2.581000	0.87130	0.655000	0.94253	CTT		0.408	BNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252939.1	NM_013979		6	46	0	0	0	1	0	6	46					G	172573902	C	G	172573902	3	3	164	1	0	0	0	0	1	0	0	0	1476	913	32	4	124	4	BNIP1	5	172573902	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	128957766	172573902	8341358	22	3392											
CPEB4	80315	broad.mit.edu	37	chr5	173337561	173337561	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcgacatgcactcactggaGagttcactcattgacataat	7	10	3	2			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr5:173337561G>A	ENST00000265085.5	+	2	2615	c.1161G>A	c.(1159-1161)gaG>gaA	p.E387E	CPEB4_ENST00000522336.1_Silent_p.E5E|CPEB4_ENST00000517880.1_Silent_p.E5E|CPEB4_ENST00000520867.1_Silent_p.E387E|CPEB4_ENST00000519835.1_Silent_p.E387E|CPEB4_ENST00000334035.5_Silent_p.E387E	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	387					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ACTCACTGGAGAGTTCACTCA	0.343																																						ENST00000265085.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20						c.(1159-1161)gaG>gaA		cytoplasmic polyadenylation element binding protein 4							113	114	114					5																	173337561		2203	4300	6503	SO:0001819	synonymous_variant	80315						nucleotide binding|RNA binding	g.chr5:173337561G>A	BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"RNA binding motif (RRM) containing"	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.1161G>A	5.37:g.173337561G>A						CPEB4_ENST00000519835.1_Silent_p.E387E|CPEB4_ENST00000522336.1_Silent_p.E5E|CPEB4_ENST00000517880.1_Silent_p.E5E|CPEB4_ENST00000334035.5_Silent_p.E387E|CPEB4_ENST00000520867.1_Silent_p.E387E	p.E387E	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	2615	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	387					B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Silent	SNP	ENST00000265085.5	37	c.1161G>A	CCDS4390.1	.	.	.	.	.	.	.	.	.	.	G	9.257	1.042238	0.19748	.	.	ENSG00000113742	ENST00000519152	.	.	.	6.07	4.3	0.51218	.	.	.	.	.	T	0.60222	0.2252	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58261	-0.7667	4	.	.	.	-21.4167	9.6798	0.40063	0.2069:0.0:0.7931:0.0	.	.	.	.	K	73	.	.	R	+	2	0	CPEB4	173270167	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.962000	0.56766	1.583000	0.49898	-0.140000	0.14226	AGA		0.343	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		9	115	0	0	0	1	0	9	115					A	173337561	G	A	173337561	2	1	164	1	0	0	0	0	0	0	0	1	3803	933	33	2		2	CPEB4	5	173337561	Silent	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	763659	173337561	7577699	23	3393											
FLT4	2324	broad.mit.edu	37	chr5	180048729	180048729	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtggcgaacagatgcacgttCttgcagtcgagcagaagcgg	15	9	1	2			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr5:180048729C>T	ENST00000261937.6	-	13	1911	c.1833G>A	c.(1831-1833)aaG>aaA	p.K611K	FLT4_ENST00000393347.3_Silent_p.K611K|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.K611K	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	611	Ig-like C2-type 6.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GATGCACGTTCTTGCAGTCGA	0.672																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1831-1833)aaG>aaA		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						58	49	52					5																	180048729		2203	4300	6503	SO:0001819	synonymous_variant	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180048729C>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1833G>A	5.37:g.180048729C>T						FLT4_ENST00000502649.1_Silent_p.K611K|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Silent_p.K611K	p.K611K	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	13	1911	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	611			Ig-like C2-type 6.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	c.1833G>A	CCDS4457.1																																																																																				0.672	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			5	62	0	0	0	1	0	5	62					T	180048729	C	T	180048729	2	4	164	1	0	0	0	0	0	0	0	1	5944	912	32	2		2	FLT4	5	180048729	Silent	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	6711168	180048729	866531	24	3394											
TNF	7124	broad.mit.edu	37	chr6	31543617	31543617	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccaggcggtgcttgttcctCagcctcttctccttcctgat	8	15	3	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr6:31543617C>T	ENST00000449264.2	+	1	274	c.99C>T	c.(97-99)ctC>ctT	p.L33L		NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN	tumor necrosis factor	33					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|calcium-mediated signaling (GO:0019722)|cell activation (GO:0001775)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nicotine (GO:0071316)|cellular response to organic cyclic compound (GO:0071407)|chronic inflammatory response to antigenic stimulus (GO:0002439)|defense response to Gram-positive bacterium (GO:0050830)|embryonic digestive tract development (GO:0048566)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glucose metabolic process (GO:0006006)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JNK cascade (GO:0007254)|leukocyte tethering or rolling (GO:0050901)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|necroptotic signaling pathway (GO:0097527)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of branching involved in lung morphogenesis (GO:0061048)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of glucose import (GO:0046325)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of L-glutamate transport (GO:0002037)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid storage (GO:0010888)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|organ morphogenesis (GO:0009887)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle development (GO:0051798)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of mononuclear cell migration (GO:0071677)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of podosome assembly (GO:0071803)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein transport (GO:0051222)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translational initiation by iron (GO:0045994)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|receptor biosynthetic process (GO:0032800)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of immunoglobulin secretion (GO:0051023)|regulation of insulin secretion (GO:0050796)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to salt stress (GO:0009651)|response to virus (GO:0009615)|sequestering of triglyceride (GO:0030730)|skeletal muscle contraction (GO:0003009)|transformed cell apoptotic process (GO:0006927)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	cytokine activity (GO:0005125)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|transcription regulatory region DNA binding (GO:0044212)|tumor necrosis factor receptor binding (GO:0005164)			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Amrinone(DB01427)|Certolizumab pegol(DB08904)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Epinephrine(DB00668)|Etanercept(DB00005)|Glucosamine(DB01296)|golimumab(DB06674)|Infliximab(DB00065)|Pomalidomide(DB08910)|Pranlukast(DB01411)|Pseudoephedrine(DB00852)|Thalidomide(DB01041)	GCTTGTTCCTCAGCCTCTTCT	0.647									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													ENST00000449264.2																			0				large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8						c.(97-99)ctC>ctT		tumor necrosis factor	Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041)						73	74	74					6																	31543617		2203	4300	6503	SO:0001819	synonymous_variant	7124	Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	activation of caspase activity|activation of MAPK activity|activation of MAPKKK activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of membrane protein ectodomain proteolysis|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome	cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding	g.chr6:31543617C>T	X02910	CCDS4702.1	6p21.3	2013-05-22	2010-05-04		ENSG00000232810	ENSG00000232810		"Tumor necrosis factor (ligand) superfamily"	11892	protein-coding gene	gene with protein product	"TNF superfamily, member 2"	191160	"tumor necrosis factor (TNF superfamily, member 2)"	TNFA		2413547, 6392892	Standard	NM_000594		Approved	TNFSF2, DIF, TNF-alpha	uc003nui.4	P01375	OTTHUMG00000031194	ENST00000449264.2:c.99C>T	6.37:g.31543617C>T							p.L33L	NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN			1	274	+		Ovarian(999;0.00556)	33					O43647|Q9P1Q2|Q9UIV3	Silent	SNP	ENST00000449264.2	37	c.99C>T	CCDS4702.1																																																																																				0.647	TNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076390.2			6	103	0	0	0	1	0	6	103					T	31543617	C	T	31543617	2	4	164	1	0	0	0	0	0	0	0	1	16268	813	29	2		2	TNF	6	31543617	Silent	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08		31543617	139571450	25	3395											
FGD2	221472	broad.mit.edu	37	chr6	36995226	36995226	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aagggtcctcagccacgcctGaccagagcctgatgtgcagc	12	14	1	3			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr6:36995226G>C	ENST00000274963.8	+	15	1798	c.1627G>C	c.(1627-1629)Gac>Cac	p.D543H		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	543					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						AGCCACGCCTGACCAGAGCCT	0.617																																						ENST00000274963.8																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						c.(1627-1629)Gac>Cac		FYVE, RhoGEF and PH domain containing 2							107	109	108					6																	36995226		2203	4300	6503	SO:0001583	missense	221472				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr6:36995226G>C	AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	3664	protein-coding gene	gene with protein product		605091	"FGD1 family, member 2"			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.1627G>C	6.37:g.36995226G>C	ENSP00000274963:p.Asp543His						p.D543H	NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN			15	1798	+			543					Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Missense_Mutation	SNP	ENST00000274963.8	37	c.1627G>C	CCDS4829.1	.	.	.	.	.	.	.	.	.	.	G	9.205	1.029431	0.19512	.	.	ENSG00000146192	ENST00000274963;ENST00000394459	T	0.59224	0.28	5.71	4.83	0.62350	.	0.655739	0.13409	N	0.389981	T	0.40347	0.1113	N	0.22421	0.69	0.09310	N	1	P;P	0.44478	0.641;0.836	B;P	0.52217	0.143;0.693	T	0.36625	-0.9740	10	0.59425	D	0.04	-9.4731	10.988	0.47532	0.0715:0.1318:0.7967:0.0	.	543;120	Q7Z6J4;Q7Z6J4-2	FGD2_HUMAN;.	H	543;171	ENSP00000274963:D543H	ENSP00000274963:D543H	D	+	1	0	FGD2	37103204	1.000000	0.71417	0.007000	0.13788	0.113000	0.19764	6.437000	0.73421	1.392000	0.46585	0.655000	0.94253	GAC		0.617	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558		18	177	0	0	0	1	0	18	177					C	36995226	G	C	36995226	3	2	164	1	0	0	0	0	1	0	0	0	5833	1290	45	4	1685	4	FGD2	6	36995226	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	5451609	36995226	134119841	26	3396											
PPP2R5D	5528	broad.mit.edu	37	chr6	42976211	42976211	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccctgagtgtctaccaccctCaggtgagctgccttcctcct	8	17	2	2			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr6:42976211C>T	ENST00000485511.1	+	9	1203	c.1024C>T	c.(1024-1026)Cag>Tag	p.Q342*	PPP2R5D_ENST00000461010.1_Nonsense_Mutation_p.Q236*|PPP2R5D_ENST00000472118.1_Nonsense_Mutation_p.Q334*|PPP2R5D_ENST00000394110.3_Nonsense_Mutation_p.Q310*	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	342					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CTACCACCCTCAGGTGAGCTG	0.532																																					Melanoma(63;587 1613 29742 31770)	ENST00000485511.1																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25						c.(1024-1026)Cag>Tag		protein phosphatase 2, regulatory subunit B', delta							85	81	83					6																	42976211		2203	4300	6503	SO:0001587	stop_gained	5528				nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr6:42976211C>T	L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9312	protein-coding gene	gene with protein product		601646	"protein phosphatase 2, regulatory subunit B (B56), delta isoform", "protein phosphatase 2, regulatory subunit B', delta isoform"			7592815	Standard	NM_006245		Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.1024C>T	6.37:g.42976211C>T	ENSP00000417963:p.Gln342*					PPP2R5D_ENST00000472118.1_Nonsense_Mutation_p.Q334*|PPP2R5D_ENST00000394110.3_Nonsense_Mutation_p.Q310*|PPP2R5D_ENST00000461010.1_Nonsense_Mutation_p.Q236*	p.Q342*	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		9	1203	+			342					A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Nonsense_Mutation	SNP	ENST00000485511.1	37	c.1024C>T	CCDS4878.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.698159|5.698159	0.96802|0.96802	.|.	.|.	ENSG00000112640|ENSG00000112640	ENST00000485511;ENST00000394110;ENST00000472118;ENST00000541610;ENST00000461010|ENST00000470467	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.77935	.|0.4205	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74222	.|-0.3735	.|3	0.87932|.	D|.	0|.	-28.0892|-28.0892	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	342;310;334;342;236|261	.|.	ENSP00000377669:Q310X|.	Q|S	+|+	1|2	0|0	PPP2R5D|PPP2R5D	43084189|43084189	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.085000|6.085000	0.71343|0.71343	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.532	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040573.3	NM_006245		5	54	0	0	0	1	0	5	54					T	42976211	C	T	42976211	4	4	164	1	0	0	0	0	0	1	0	0	12395	827	29	2	1058	2	PPP2R5D	6	42976211	Nonsense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	5980985	42976211	128138856	27	3397											
KCNQ5	56479	broad.mit.edu	37	chr6	73834209	73834209	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctgcctgcacgcacctgaagGaaagaacaaggggaagcatc	12	11	0	2			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr6:73834209G>T	ENST00000370398.1	+	9	1330	c.1221G>T	c.(1219-1221)aaG>aaT	p.K407N	KCNQ5_ENST00000370392.1_Splice_Site_p.K407N|KCNQ5_ENST00000403813.2_Intron|KCNQ5_ENST00000402622.2_Intron|KCNQ5_ENST00000342056.2_Splice_Site_p.K407N|KCNQ5_ENST00000355635.3_Intron|KCNQ5_ENST00000355194.4_Splice_Site_p.K407N|KCNQ5_ENST00000414165.2_Splice_Site_p.K407N	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	407					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	GCACCTGAAGGAAAGAACAAG	0.383																																					GBM(142;1375 1859 14391 23261 44706)	ENST00000342056.2																			0				breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.e9-1		potassium voltage-gated channel, KQT-like subfamily, member 5							175	159	165					6																	73834209		2203	4300	6503	SO:0001630	splice_region_variant	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73834209G>T	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1221-1G>T	6.37:g.73834209G>T						KCNQ5_ENST00000402622.2_Intron|KCNQ5_ENST00000370392.1_Splice_Site_p.K407_splice|KCNQ5_ENST00000370398.1_Splice_Site_p.K407_splice|KCNQ5_ENST00000355635.3_Intron|KCNQ5_ENST00000414165.2_Splice_Site_p.K407_splice|KCNQ5_ENST00000355194.4_Splice_Site_p.K407_splice|KCNQ5_ENST00000403813.2_Intron	p.K407_splice	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	9	1619	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	407					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Splice_Site	SNP	ENST00000370398.1	37	c.1220_splice	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.485724	0.44147	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000414165	D;D;D;D;D	0.99382	-5.75;-5.72;-5.72;-5.65;-5.8	5.44	5.44	0.79542	.	3.917520	0.00447	N	0.000083	D	0.97711	0.9249	L	0.58101	1.795	0.41956	D	0.990687	B;B;B;B	0.24768	0.111;0.0;0.0;0.007	B;B;B;B	0.24541	0.054;0.002;0.001;0.011	T	0.82460	-0.0446	9	.	.	.	.	13.3755	0.60736	0.0822:0.0:0.9178:0.0	.	407;407;407;407	F5GZV0;A6PVT6;Q9NR82;Q9NR82-4	.;.;KCNQ5_HUMAN;.	N	407	ENSP00000345055:K407N;ENSP00000347326:K407N;ENSP00000359425:K407N;ENSP00000359419:K407N;ENSP00000409861:K407N	.	K	+	3	2	KCNQ5	73890930	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.492000	0.66893	2.709000	0.92574	0.655000	0.94253	AAG		0.383	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842	Missense_Mutation	4	50	1	0	0.00024832	1	0.000257871	4	50					T	73834209	G	T	73834209	5	4	164	1	0	0	0	0	0	0	1	0	8086	1188	41	4	1255	4	KCNQ5	6	73834209	Splice_Site	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	30857998	73834209	97280858	28	3398											
TIAM2	26230	broad.mit.edu	37	chr6	155450556	155450556	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggcccgaagctgcctttctCactttaagagtaaccagcct	8	13	1	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr6:155450556C>T	ENST00000461783.3	+	6	1472	c.199C>T	c.(199-201)Cac>Tac	p.H67Y	TIAM2_ENST00000360366.4_Missense_Mutation_p.H67Y|TIAM2_ENST00000529824.2_Missense_Mutation_p.H67Y|TIAM2_ENST00000318981.5_Missense_Mutation_p.H67Y|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000456144.1_Missense_Mutation_p.H67Y			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	67					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CTGCCTTTCTCACTTTAAGAG	0.547																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(199-201)Cac>Tac		T-cell lymphoma invasion and metastasis 2							76	70	72					6																	155450556		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155450556C>T		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.199C>T	6.37:g.155450556C>T	ENSP00000437188:p.His67Tyr					TIAM2_ENST00000318981.5_Missense_Mutation_p.H67Y|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000456144.1_Missense_Mutation_p.H67Y|TIAM2_ENST00000529824.2_Missense_Mutation_p.H67Y|TIAM2_ENST00000360366.4_Missense_Mutation_p.H67Y	p.H67Y			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	6	1472	+		Ovarian(120;0.196)	67					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.199C>T	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312100	0.81358	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000538270;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000535583;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.05513	3.54;3.43;3.49;3.54;3.55;3.49	5.36	5.36	0.76844	.	0.108147	0.64402	D	0.000004	T	0.10981	0.0268	M	0.68317	2.08	0.80722	D	1	D	0.60575	0.988	P	0.52343	0.696	T	0.00883	-1.1528	10	0.72032	D	0.01	.	17.27	0.87098	0.0:1.0:0.0:0.0	.	67	Q8IVF5	TIAM2_HUMAN	Y	67;313;67;67;67;67;67;67;67	ENSP00000437188:H67Y;ENSP00000434901:H67Y;ENSP00000407746:H67Y;ENSP00000327315:H67Y;ENSP00000353528:H67Y;ENSP00000433348:H67Y	ENSP00000327315:H67Y	H	+	1	0	TIAM2	155492248	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	5.291000	0.65667	2.509000	0.84616	0.561000	0.74099	CAC		0.547	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		5	32	0	0	0	1	0	5	32					T	155450556	C	T	155450556	3	4	164	1	0	0	0	0	1	0	0	0	15888	826	29	2	201	2	TIAM2	6	155450556	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	81616347	155450556	15664511	29	3399											
LINGO2	158038	broad.mit.edu	37	chr9	27949733	27949733	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccttggaaggagtgaggctCaatggtgcgaagctgggccc	16	10	1	1	rs371555423		TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr9:27949733C>T	ENST00000379992.2	-	6	1386	c.937G>A	c.(937-939)Gag>Aag	p.E313K	LINGO2_ENST00000308675.3_Missense_Mutation_p.E313K	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	313						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GAGTGAGGCTCAATGGTGCGA	0.542																																						ENST00000379992.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44						c.(937-939)Gag>Aag		leucine rich repeat and Ig domain containing 2		C	LYS/GLU	0,4406		0,0,2203	92	95	94		937	5.9	1.0	9		94	1,8599	1.2+/-3.3	0,1,4299	no	missense	LINGO2	NM_152570.1	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	313/607	27949733	1,13005	2203	4300	6503	SO:0001583	missense	158038					integral to membrane		g.chr9:27949733C>T	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"Immunoglobulin superfamily / I-set domain containing"	21207	protein-coding gene	gene with protein product		609793	"leucine rich repeat neuronal 6C"	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.937G>A	9.37:g.27949733C>T	ENSP00000369328:p.Glu313Lys					LINGO2_ENST00000308675.3_Missense_Mutation_p.E313K	p.E313K	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	6	1386	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	313					A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.937G>A	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758453	0.69763	0.0	1.16E-4	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.58797	0.31;0.31	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.70979	0.3286	L	0.48877	1.53	0.80722	D	1	D	0.71674	0.998	D	0.67382	0.951	T	0.66011	-0.6029	9	.	.	.	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	313	Q7L985	LIGO2_HUMAN	K	313	ENSP00000369328:E313K;ENSP00000310126:E313K	.	E	-	1	0	LINGO2	27939733	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.089000	0.71384	2.824000	0.97209	0.655000	0.94253	GAG		0.542	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		5	69	0	0	0	1	0	5	69					T	27949733	C	T	27949733	3	4	164	1	0	0	0	0	1	0	0	0	8815	835	29	2	887	2	LINGO2	9	27949733	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08		27949733	113263698	30	3400											
TMEM2	23670	broad.mit.edu	37	chr9	74300217	74300217	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctgcaaaggtatgaattgttCaagcaccccaaggccctgtc	9	12	1	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr9:74300217C>G	ENST00000377044.4	-	24	4587	c.4048G>C	c.(4048-4050)Gaa>Caa	p.E1350Q	TMEM2_ENST00000396272.3_Missense_Mutation_p.E343Q|TMEM2_ENST00000377066.5_Missense_Mutation_p.E1287Q	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1350					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		ATGAATTGTTCAAGCACCCCA	0.458																																						ENST00000377044.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56						c.(4048-4050)Gaa>Caa		transmembrane protein 2							115	105	108					9																	74300217		2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74300217C>G		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.4048G>C	9.37:g.74300217C>G	ENSP00000366243:p.Glu1350Gln					TMEM2_ENST00000396272.3_Missense_Mutation_p.E343Q|TMEM2_ENST00000377066.5_Missense_Mutation_p.E1287Q	p.E1350Q	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	24	4587	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	1350					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.4048G>C	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452163	0.63290	.	.	ENSG00000135048	ENST00000377044;ENST00000377066;ENST00000396272	T;T;T	0.74737	-0.87;-0.78;2.4	5.53	5.53	0.82687	.	0.161807	0.53938	D	0.000053	T	0.75627	0.3875	M	0.62723	1.935	0.58432	D	0.999996	P;P	0.45212	0.853;0.849	B;B	0.43623	0.376;0.425	T	0.73975	-0.3813	10	0.29301	T	0.29	.	19.4587	0.94906	0.0:1.0:0.0:0.0	.	1350;1287	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	Q	1350;1287;343	ENSP00000366243:E1350Q;ENSP00000366266:E1287Q;ENSP00000379569:E343Q	ENSP00000366243:E1350Q	E	-	1	0	TMEM2	73490037	1.000000	0.71417	0.945000	0.38365	0.990000	0.78478	5.630000	0.67805	2.601000	0.87937	0.555000	0.69702	GAA		0.458	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		7	84	0	0	0	1	0	7	84					G	74300217	C	G	74300217	3	3	164	1	0	0	0	0	1	0	0	0	16118	835	29	4	107	4	TMEM2	9	74300217	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	46350484	74300217	66913214	31	3401											
DNAJC25	548645	broad.mit.edu	37	chr9	114393996	114393996	+	Frame_Shift_Del	DEL	G	G	-													gccgaggaggctttcctgctGgtggcaaccgcctacgagac							TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr9:114393996delG	ENST00000313525.3	+	1	365	c.309delG	c.(307-309)ctgfs	p.L103fs	LRRC37A5P_ENST00000374304.1_RNA|DNAJC25_ENST00000556107.1_Frame_Shift_Del_p.L103fs|DNAJC25-GNG10_ENST00000374294.3_Frame_Shift_Del_p.L103fs	NM_001015882.2	NP_001015882.2	Q9H1X3	DJC25_HUMAN	DnaJ (Hsp40) homolog, subfamily C , member 25	103	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(1)|skin(4)	8						CTTTCCTGCTGGTGGCAACCG	0.741																																						ENST00000313525.3																			0				kidney(1)|large_intestine(2)|lung(1)|skin(4)	8						c.(307-309)ctfs		DnaJ (Hsp40) homolog, subfamily C , member 25							2	2	2					9																	114393996		1478	3139	4617	SO:0001589	frameshift_variant	548645				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr9:114393996delG		CCDS43862.1	9q31.3	2011-09-02			ENSG00000059769	ENSG00000059769		"Heat shock proteins / DNAJ (HSP40)"	34187	protein-coding gene	gene with protein product							Standard	NM_001015882		Approved	bA16L21.2.1	uc004bfl.3	Q9H1X3	OTTHUMG00000020491	ENST00000313525.3:c.309delG	9.37:g.114393996delG	ENSP00000320650:p.Leu103fs					DNAJC25_ENST00000556107.1_Frame_Shift_Del_p.L103fs|DNAJC25-GNG10_ENST00000374294.3_Frame_Shift_Del_p.L103fs	p.L103fs	NM_001015882.2	NP_001015882.2	Q9H1X3	DJC25_HUMAN			1	365	+			103			J.		Q5QTD8|Q96BN9	Frame_Shift_Del	DEL	ENST00000313525.3	37	c.309delG	CCDS43862.1																																																																																				0.741	DNAJC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156218.3	NM_001015882		2	4						2	4	---	---	---	---	-	114393996	G	-	114393996	7	5	164	1	0	1	0	1	0	0	0	0	4643	1335	47	0	311	0	DNAJC25	9	114393996	Frame_Shift_Del	DEL	G	TCGA-DO-A2HM-01B-11D-A22D-08	40093779	114393996	26819435	32	3402											
KLF6	1316	broad.mit.edu	37	chr10	3824138	3824138	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatggggtcggaggtaaacTtggccgtgggagaaagttcc	16	7	0	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr10:3824138T>C	ENST00000497571.1	-	2	631	c.371A>G	c.(370-372)aAg>aGg	p.K124R	KLF6_ENST00000542957.1_Missense_Mutation_p.K124R|KLF6_ENST00000173785.4_5'UTR|KLF6_ENST00000469435.1_Missense_Mutation_p.K124R	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	124					B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K124R(1)		breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		GGAGGTAAACTTGGCCGTGGG	0.532											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000497571.1																			1	Substitution - Missense(1)	p.K124R(1)	lung(1)	breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(370-372)aAg>aGg		Kruppel-like factor 6							119	127	124					10																	3824138		2203	4300	6503	SO:0001583	missense	1316				B cell differentiation	nucleus	zinc ion binding	g.chr10:3824138T>C	U51869	CCDS7060.1, CCDS53490.1	10p15	2013-01-08	2004-11-29	2004-12-01	ENSG00000067082	ENSG00000067082		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	2235	protein-coding gene	gene with protein product	"GC-rich binding factor"	602053	"core promoter element binding protein"	BCD1, ST12, COPEB		9503030, 9685731	Standard	NM_001300		Approved	CPBP, GBF, Zf9, PAC1	uc001iha.3	Q99612	OTTHUMG00000017567	ENST00000497571.1:c.371A>G	10.37:g.3824138T>C	ENSP00000419923:p.Lys124Arg		OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	614	KLF6_ENST00000173785.4_5'UTR|KLF6_ENST00000469435.1_Missense_Mutation_p.K124R|KLF6_ENST00000542957.1_Missense_Mutation_p.K124R	p.K124R	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN		Colorectal(1;0.238)	2	631	-			124					B2RE86|B4DDN0|D3DRR1|F5H3M5|Q5VUT7|Q5VUT8|Q9BT79	Missense_Mutation	SNP	ENST00000497571.1	37	c.371A>G	CCDS7060.1	.	.	.	.	.	.	.	.	.	.	T	11.87	1.768949	0.31320	.	.	ENSG00000067082	ENST00000497571;ENST00000542957;ENST00000469435	T;T;T	0.52754	3.4;0.65;0.88	4.99	4.99	0.66335	.	0.345155	0.35040	N	0.003493	T	0.38799	0.1054	L	0.36672	1.1	0.30195	N	0.799166	P;P;B;P	0.44429	0.454;0.835;0.11;0.514	B;P;B;B	0.44990	0.105;0.466;0.033;0.151	T	0.31724	-0.9933	10	0.20519	T	0.43	.	8.5654	0.33536	0.0:0.0861:0.0:0.9139	.	124;124;124;124	D3GC14;F5H3M5;Q99612-2;Q99612	.;.;.;KLF6_HUMAN	R	124	ENSP00000419923:K124R;ENSP00000445301:K124R;ENSP00000419079:K124R	ENSP00000419079:K124R	K	-	2	0	KLF6	3814138	1.000000	0.71417	0.990000	0.47175	0.735000	0.41995	2.407000	0.44565	1.873000	0.54277	0.459000	0.35465	AAG		0.532	KLF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046495.1			18	152	0	0	0	1	0	18	152					C	3824138	T	C	3824138	3	2	164	1	0	0	0	0	1	0	0	0	8350	1609	56	3	492	3	KLF6	10	3824138	Missense_Mutation	SNP	T	TCGA-DO-A2HM-01B-11D-A22D-08		3824138	131710609	33	3403											
GPR158	57512	broad.mit.edu	37	chr10	25464395	25464395	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcctctgcctcctgcttgctCagctgggattgggagctgtt	12	12	2	0			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr10:25464395C>A	ENST00000376351.3	+	1	405	c.46C>A	c.(46-48)Cag>Aag	p.Q16K	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	16					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CCTGCTTGCTCAGCTGGGATT	0.637																																						ENST00000376351.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(46-48)Cag>Aag		G protein-coupled receptor 158							35	41	39					10																	25464395		2203	4293	6496	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25464395C>A	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.46C>A	10.37:g.25464395C>A	ENSP00000365529:p.Gln16Lys					GPR158-AS1_ENST00000449643.1_RNA	p.Q16K	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			1	405	+			16					Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.46C>A	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.176392	0.38413	.	.	ENSG00000151025	ENST00000376351	T	0.59083	0.29	4.72	4.72	0.59763	.	1.302630	0.05575	N	0.571782	T	0.40645	0.1125	N	0.14661	0.345	0.19575	N	0.999968	B	0.19817	0.039	B	0.16722	0.016	T	0.15065	-1.0450	10	0.07813	T	0.8	.	11.0535	0.47905	0.0:0.9137:0.0:0.0863	.	16	Q5T848	GP158_HUMAN	K	16	ENSP00000365529:Q16K	ENSP00000365529:Q16K	Q	+	1	0	GPR158	25504401	0.641000	0.27251	0.139000	0.22197	0.942000	0.58702	3.736000	0.55052	2.462000	0.83206	0.467000	0.42956	CAG		0.637	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		6	92	1	0	0.000274275	1	0.000282112	6	92					A	25464395	C	A	25464395	3	1	164	1	0	0	0	0	1	0	0	0	6663	827	29	4	48	4	GPR158	10	25464395	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	21640257	25464395	110070352	34	3404											
CCNJ	54619	broad.mit.edu	37	chr10	97817702	97817702	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catcacggccagttcactttCagcaacctcagtatctccat	5	15	5	0	rs149060787		TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr10:97817702C>T	ENST00000265992.5	+	6	1190	c.823C>T	c.(823-825)Cag>Tag	p.Q275*	CCNJ_ENST00000534974.1_Nonsense_Mutation_p.Q275*|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000427846.1_RNA|CCNJ_ENST00000403870.3_Nonsense_Mutation_p.Q274*|CCNJ_ENST00000465148.2_Nonsense_Mutation_p.Q286*|ENTPD1-AS1_ENST00000454638.1_RNA	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN	cyclin J	275						nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		AGTTCACTTTCAGCAACCTCA	0.502																																						ENST00000265992.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11						c.(823-825)Cag>Tag		cyclin J							246	206	219					10																	97817702		2203	4300	6503	SO:0001587	stop_gained	54619					nucleus		g.chr10:97817702C>T	AK001757	CCDS7445.1, CCDS44462.1, CCDS44463.1	10q23.33	2008-05-14			ENSG00000107443	ENSG00000107443			23434	protein-coding gene	gene with protein product						12477932	Standard	NM_019084		Approved	FLJ10895, bA690P14.1	uc010qoq.2	Q5T5M9	OTTHUMG00000018823	ENST00000265992.5:c.823C>T	10.37:g.97817702C>T	ENSP00000265992:p.Gln275*					ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|CCNJ_ENST00000534974.1_Nonsense_Mutation_p.Q275*|ENTPD1-AS1_ENST00000427846.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|CCNJ_ENST00000465148.2_Nonsense_Mutation_p.Q286*|ENTPD1-AS1_ENST00000416301.1_RNA|CCNJ_ENST00000403870.3_Nonsense_Mutation_p.Q274*|ENTPD1-AS1_ENST00000458228.1_RNA	p.Q275*	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN		Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)	6	1190	+			275					B7Z4E7|Q86XL1|Q9NV69	Nonsense_Mutation	SNP	ENST00000265992.5	37	c.823C>T	CCDS7445.1	.	.	.	.	.	.	.	.	.	.	C	39	7.689009	0.98434	.	.	ENSG00000107443	ENST00000265992;ENST00000419934;ENST00000403870;ENST00000534974	.	.	.	5.5	5.5	0.81552	.	0.177671	0.53938	D	0.000058	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-10.7644	18.5443	0.91040	0.0:1.0:0.0:0.0	.	.	.	.	X	275;286;274;275	.	ENSP00000265992:Q275X	Q	+	1	0	CCNJ	97807692	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.220000	0.65267	2.744000	0.94065	0.655000	0.94253	CAG		0.502	CCNJ-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090166.3	NM_019084		14	159	0	0	0	1	0	14	159					T	97817702	C	T	97817702	4	4	164	1	0	0	0	0	0	1	0	0	2928	827	29	2	874	2	CCNJ	10	97817702	Nonsense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	72353307	97817702	37717045	35	3405											
KCNIP2	30819	broad.mit.edu	37	chr10	103587154	103587154	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catggacctcatgatgttctCatcctgtggccatgatgtga	10	10	2	3			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr10:103587154C>T	ENST00000356640.2	-	10	1044	c.769G>A	c.(769-771)Gag>Aag	p.E257K	KCNIP2-AS1_ENST00000412353.1_RNA|KCNIP2_ENST00000343195.4_Missense_Mutation_p.E207K|KCNIP2_ENST00000358038.3_Missense_Mutation_p.E239K|KCNIP2_ENST00000353068.3_Missense_Mutation_p.E214K|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000370046.1_Missense_Mutation_p.E171K|KCNIP2_ENST00000348850.5_Missense_Mutation_p.E212K|KCNIP2_ENST00000461105.1_Missense_Mutation_p.E272K	NM_014591.4|NM_173191.2	NP_055406.2|NP_775283.1	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2	257	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Interaction with KCND2. {ECO:0000250}.				clustering of voltage-gated potassium channels (GO:0045163)|detection of calcium ion (GO:0005513)|membrane repolarization (GO:0086009)|muscle contraction (GO:0006936)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of cation channel activity (GO:2001257)|regulation of heart contraction (GO:0008016)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|calcium ion binding (GO:0005509)|ER retention sequence binding (GO:0046923)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein N-terminus binding (GO:0047485)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		ATGATGTTCTCATCCTGTGGC	0.527																																						ENST00000358038.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(715-717)Gag>Aag		Kv channel interacting protein 2							135	120	125					10																	103587154		2203	4300	6503	SO:0001583	missense	30819				clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding	g.chr10:103587154C>T		CCDS7521.1, CCDS7522.1, CCDS7523.1, CCDS7524.1, CCDS7525.1, CCDS7526.1, CCDS41562.1	10q24.32	2013-09-20	2001-11-29		ENSG00000120049	ENSG00000120049		"EF-hand domain containing"	15522	protein-coding gene	gene with protein product		604661	"Kv channel-interacting protein 2"			10676964	Standard	NM_173192		Approved	KCHIP2	uc001kuc.3	Q9NS61	OTTHUMG00000018937	ENST00000356640.2:c.769G>A	10.37:g.103587154C>T	ENSP00000349055:p.Glu257Lys					KCNIP2_ENST00000348850.5_Missense_Mutation_p.E212K|KCNIP2_ENST00000370046.1_Missense_Mutation_p.E171K|KCNIP2_ENST00000353068.3_Missense_Mutation_p.E214K|KCNIP2_ENST00000461105.1_Missense_Mutation_p.E272K|KCNIP2-AS1_ENST00000412353.1_RNA|KCNIP2_ENST00000356640.2_Missense_Mutation_p.E257K|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000343195.4_Missense_Mutation_p.E207K	p.E239K	NM_173192.2|NM_173193.2|NM_173195.2	NP_775284.1|NP_775285.1|NP_775287.1	Q9NS61	KCIP2_HUMAN		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)	9	1066	-		Colorectal(252;0.122)	257	N -> S (in Ref. 9; AAP57633).		EF-hand 4.		A6NJE5|A8MQ75|Q3YAC6|Q3YAC8|Q3YAC9|Q7Z6F1|Q96K86|Q96T41|Q96T42|Q96T43|Q96T44|Q9H0N4|Q9HD10|Q9HD11|Q9NS60|Q9NY10|Q9NZI1	Missense_Mutation	SNP	ENST00000356640.2	37	c.715G>A	CCDS7522.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320215	0.60634	.	.	ENSG00000120049	ENST00000348850;ENST00000358038;ENST00000359877;ENST00000370059;ENST00000356640;ENST00000370046;ENST00000434163;ENST00000353068;ENST00000461105;ENST00000343195	T;T;T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;0.99;-0.25;-0.25;-0.25	4.97	4.97	0.65823	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.78742	0.4331	L	0.55990	1.75	0.80722	D	1	P;D;P;D;P;D;D;P;D;B;B	0.54964	0.644;0.963;0.937;0.963;0.927;0.963;0.962;0.51;0.969;0.267;0.095	P;P;P;P;D;P;D;B;P;B;B	0.68192	0.725;0.831;0.682;0.831;0.922;0.753;0.956;0.129;0.867;0.078;0.298	T	0.78580	-0.2149	10	0.52906	T	0.07	.	18.7755	0.91910	0.0:1.0:0.0:0.0	.	201;203;206;207;239;214;272;257;188;212;164	B4DHY9;Q9NS61-5;Q3YAC7;Q9NS61-3;Q9NS61-2;Q9NS61-7;Q9NS61-6;Q9NS61;B3KSZ5;Q3YAC6;Q9NS61-8	.;.;.;.;.;.;.;KCIP2_HUMAN;.;.;.	K	212;239;188;239;257;171;164;214;272;207	ENSP00000239118:E212K;ENSP00000350733:E239K;ENSP00000349055:E257K;ENSP00000359063:E171K;ENSP00000411679:E164K;ENSP00000341624:E214K;ENSP00000420040:E272K;ENSP00000344169:E207K	ENSP00000344169:E207K	E	-	1	0	KCNIP2	103577144	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.609000	0.82925	2.746000	0.94184	0.561000	0.74099	GAG		0.527	KCNIP2-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049973.1			10	176	0	0	0	1	0	10	176					T	103587154	C	T	103587154	3	4	164	1	0	0	0	0	1	0	0	0	8040	835	29	2	47	2	KCNIP2	10	103587154	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	5769452	103587154	31947593	36	3406											
MUC6	4588	broad.mit.edu	37	chr11	1026001	1026001	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggcacccgatggttaccGtggccaggatgtactcgcag	13	13	0	0	rs191759836	byFrequency	TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr11:1026001G>A	ENST00000421673.2	-	21	2737	c.2687C>T	c.(2686-2688)aCg>aTg	p.T896M		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	896	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GATGGTTACCGTGGCCAGGAT	0.677													g|||	8	0.00159744	8e-04	0	5008	,	,		18199	0		0.003	False		,,,				2504	0.0041					ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.e21+1		mucin 6, oligomeric mucus/gel-forming		G	MET/THR	5,4181		0,5,2088	39	42	41		2687	3.9	1.0	11		41	36,8386		0,36,4175	yes	missense-near-splice	MUC6	NM_005961.2	81	0,41,6263	AA,AG,GG		0.4275,0.1194,0.3252	probably-damaging	896/2440	1026001	41,12567	2093	4211	6304	SO:0001630	splice_region_variant	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1026001G>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.2688+1C>T	11.37:g.1026001G>A							p.T896_splice	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	21	2737	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	896			VWFD 3.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Splice_Site	SNP	ENST00000421673.2	37	c.2688_splice	CCDS44513.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	12.29	1.893301	0.33442	0.001194	0.004275	ENSG00000184956	ENST00000421673	T	0.60040	0.22	3.91	3.91	0.45181	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.64011	0.2560	L	0.49455	1.56	0.31517	N	0.66284	D	0.76494	0.999	P	0.61328	0.887	T	0.65018	-0.6270	9	0.42905	T	0.14	.	8.2463	0.31691	0.1614:0.0:0.8386:0.0	.	896	Q6W4X9	MUC6_HUMAN	M	896	ENSP00000406861:T896M	ENSP00000406861:T896M	T	-	2	0	MUC6	1016001	1.000000	0.71417	0.996000	0.52242	0.517000	0.34286	2.459000	0.45023	1.897000	0.54924	0.491000	0.48974	ACG		0.677	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540	Missense_Mutation	2	2	0	0	0	1	0	2	2					A	1026001	G	A	1026001	5	1	164	1	0	0	0	0	0	0	1	0	9980	1159	40	1	4684	1	MUC6	11	1026001	Splice_Site	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08		1026001	133980515	37	3407											
NLRP14	338323	broad.mit.edu	37	chr11	7064628	7064628	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gggttaactcaatctgatgtCtctagttttatggacagcaa	9	7	3	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr11:7064628C>G	ENST00000299481.4	+	4	1717	c.1371C>G	c.(1369-1371)gtC>gtG	p.V457V		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	457	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)		AATCTGATGTCTCTAGTTTTA	0.408																																						ENST00000299481.4																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(1369-1371)gtC>gtG		NLR family, pyrin domain containing 14							116	120	119					11																	7064628		2201	4296	6497	SO:0001819	synonymous_variant	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7064628C>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.1371C>G	11.37:g.7064628C>G							p.V457V	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	4	1717	+			457			NACHT.		Q7RTR6	Silent	SNP	ENST00000299481.4	37	c.1371C>G	CCDS7776.1																																																																																				0.408	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		4	84	0	0	0	1	0	4	84					G	7064628	C	G	7064628	2	3	164	1	0	0	0	0	0	0	0	1	10476	900	32	4		4	NLRP14	11	7064628	Silent	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	6038627	7064628	127941888	38	3408											
RAG1	5896	broad.mit.edu	37	chr11	36597776	36597776	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacaaactgtttaggcgcttCcggaaaatgaatgccaggca	10	9	0	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr11:36597776C>T	ENST00000299440.5	+	2	3034	c.2922C>T	c.(2920-2922)ttC>ttT	p.F974F		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	974					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TTAGGCGCTTCCGGAAAATGA	0.468									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(2920-2922)ttC>ttT		recombination activating gene 1							94	100	98					11																	36597776		2202	4298	6500	SO:0001819	synonymous_variant	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36597776C>T	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"RING-type (C3HC4) zinc fingers"	9831	protein-coding gene	gene with protein product	"recombination activating protein 1", "RING finger protein 74", "V(D)J recombination-activating protein 1"	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2922C>T	11.37:g.36597776C>T							p.F974F	NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN			2	3034	+	all_lung(20;0.226)	all_hematologic(20;0.107)	974					E9PPC4|Q8IY72|Q8NER2	Silent	SNP	ENST00000299440.5	37	c.2922C>T	CCDS7902.1																																																																																				0.468	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		8	86	0	0	0	1	0	8	86					T	36597776	C	T	36597776	2	4	164	1	0	0	0	0	0	0	0	1	13003	854	30	2		2	RAG1	11	36597776	Silent	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	29533148	36597776	98408740	39	3409											
PACSIN3	29763	broad.mit.edu	37	chr11	47200728	47200728	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcctcgaactgtggccagttCatggccatgcctggcccgtg	13	14	1	0			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr11:47200728C>A	ENST00000539589.1	-	8	1224	c.882G>T	c.(880-882)atG>atT	p.M294I	ARFGAP2_ENST00000426335.2_5'Flank|ARFGAP2_ENST00000419701.2_5'Flank|PACSIN3_ENST00000298838.6_Missense_Mutation_p.M294I|ARFGAP2_ENST00000319543.6_5'Flank|ARFGAP2_ENST00000524782.1_5'Flank|ARFGAP2_ENST00000395449.3_5'Flank	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	294	F-BAR domain. {ECO:0000250}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endocytosis (GO:0045806)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|cytoskeletal protein binding (GO:0008092)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						GTGGCCAGTTCATGGCCATGC	0.627																																						ENST00000539589.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						c.(880-882)atG>atT		protein kinase C and casein kinase substrate in neurons 3							117	122	120					11																	47200728		2201	4298	6499	SO:0001583	missense	29763				endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding	g.chr11:47200728C>A	AF130979	CCDS31481.1	11p12-p11	2008-02-05				ENSG00000165912			8572	protein-coding gene	gene with protein product	"syndapin III"	606513				10531379	Standard	NM_016223		Approved	SDPIII	uc001ndx.3	Q9UKS6		ENST00000539589.1:c.882G>T	11.37:g.47200728C>A	ENSP00000440945:p.Met294Ile					PACSIN3_ENST00000298838.6_Missense_Mutation_p.M294I	p.M294I	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN			8	1224	-			294					A6NH84|Q9H331|Q9NWV9	Missense_Mutation	SNP	ENST00000539589.1	37	c.882G>T	CCDS31481.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	26.8|26.8|26.8	4.767618|4.767618|4.767618	0.90020|0.90020|0.90020	.|.|.	.|.|.	ENSG00000165912|ENSG00000165912|ENSG00000165912	ENST00000533686|ENST00000298838;ENST00000539589;ENST00000528462|ENST00000415232	.|T;T;T|.	.|0.26957|.	.|1.7;1.7;1.7|.	5.24|5.24|5.24	5.24|5.24|5.24	0.73138|0.73138|0.73138	.|.|.	.|0.038691|.	.|0.85682|.	.|D|.	.|0.000000|.	.|T|.	.|0.78000|.	.|0.4215|.	M|M|M	0.77486|0.77486|0.77486	2.375|2.375|2.375	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|P|.	.|0.50528|.	.|0.936|.	.|P|.	.|0.59424|.	.|0.857|.	.|T|.	.|0.78054|.	.|-0.2354|.	.|10|.	.|0.10377|.	.|T|.	.|0.69|.	-23.6025|-23.6025|-23.6025	19.1833|19.1833|19.1833	0.93632|0.93632|0.93632	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|294|.	.|Q9UKS6|.	.|PACN3_HUMAN|.	X|I|L	17|294|293	.|ENSP00000298838:M294I;ENSP00000440945:M294I;ENSP00000437252:M294I|.	.|ENSP00000298838:M294I|.	E|M|X	-|-|-	1|3|2	0|0|2	PACSIN3|PACSIN3|PACSIN3	47157304|47157304|47157304	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.993000|0.993000|0.993000	0.82548|0.82548|0.82548	7.776000|7.776000|7.776000	0.85560|0.85560|0.85560	2.606000|2.606000|2.606000	0.88127|0.88127|0.88127	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAA|ATG|TGA		0.627	PACSIN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391632.1	NM_016223		26	265	1	0	2.68265e-12	1	2.81288e-12	26	265					A	47200728	C	A	47200728	3	1	164	1	0	0	0	0	1	0	0	0	11376	826	29	4	408	4	PACSIN3	11	47200728	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	10602952	47200728	87805788	40	3410											
CNIH2	254263	broad.mit.edu	37	chr11	66050518	66050518	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcccccagctggtggtcccaGaatactccatccacggcctc	8	18	0	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr11:66050518G>C	ENST00000311445.6	+	4	469	c.211G>C	c.(211-213)Gaa>Caa	p.E71Q	YIF1A_ENST00000526497.1_5'Flank|CNIH2_ENST00000528852.1_Missense_Mutation_p.E71Q|CNIH2_ENST00000530519.1_3'UTR	NM_182553.2	NP_872359.1	Q6PI25	CNIH2_HUMAN	cornichon family AMPA receptor auxiliary protein 2	71					intracellular signal transduction (GO:0035556)|localization within membrane (GO:0051668)|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)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						GGTGGTCCCAGAATACTCCAT	0.597											OREG0021100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000528852.1																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(211-213)Gaa>Caa		cornichon family AMPA receptor auxiliary protein 2							111	110	111					11																	66050518		2200	4295	6495	SO:0001583	missense	254263				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|dendritic spine|endoplasmic reticulum membrane|postsynaptic density|postsynaptic membrane	protein binding	g.chr11:66050518G>C	BC047953	CCDS8131.1	11q13.2	2013-08-28	2013-08-28		ENSG00000174871	ENSG00000174871			28744	protein-coding gene	gene with protein product		611288	"cornichon homolog 2 (Drosophila)"			12477932	Standard	NM_182553		Approved	MGC50896, Cnil, CNIH-2	uc001ohi.2	Q6PI25	OTTHUMG00000166919	ENST00000311445.6:c.211G>C	11.37:g.66050518G>C	ENSP00000310003:p.Glu71Gln		OREG0021100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1088	CNIH2_ENST00000530519.1_3'UTR|CNIH2_ENST00000311445.6_Missense_Mutation_p.E71Q	p.E71Q			Q6PI25	CNIH2_HUMAN			4	478	+			71						Missense_Mutation	SNP	ENST00000311445.6	37	c.211G>C	CCDS8131.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.441507	0.83993	.	.	ENSG00000174871	ENST00000528852;ENST00000311445	T;T	0.56611	0.45;0.45	5.17	5.17	0.71159	.	0.107176	0.64402	D	0.000008	T	0.77903	0.4200	M	0.89658	3.05	0.80722	D	1	D;D	0.61080	0.983;0.989	D;D	0.71184	0.972;0.92	T	0.82894	-0.0231	10	0.87932	D	0	-21.5679	17.8166	0.88637	0.0:0.0:1.0:0.0	.	71;71	Q6PI25;E9PS15	CNIH2_HUMAN;.	Q	71	ENSP00000432177:E71Q;ENSP00000310003:E71Q	ENSP00000310003:E71Q	E	+	1	0	CNIH2	65807094	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	5.248000	0.65421	2.574000	0.86865	0.563000	0.77884	GAA		0.597	CNIH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391892.1	NM_182553		10	157	0	0	0	1	0	10	157					C	66050518	G	C	66050518	3	2	164	1	0	0	0	0	1	0	0	0	3603	943	33	4	225	4	CNIH2	11	66050518	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	18849790	66050518	68955998	41	3411											
ODZ4	26011	broad.mit.edu	37	chr11	78437190	78437190	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagcttggacgcgtcaatttCatagccctgcagcactgttg	10	11	2	0			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr11:78437190C>T	ENST00000278550.7	-	23	3946	c.3484G>A	c.(3484-3486)Gaa>Aaa	p.E1162K		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1162					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										GCGTCAATTTCATAGCCCTGC	0.443																																						ENST00000278550.7																			0											c.(3484-3486)Gaa>Aaa		teneurin transmembrane protein 4							310	300	303					11																	78437190		1930	4132	6062	SO:0001583	missense	26011							g.chr11:78437190C>T	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.3484G>A	11.37:g.78437190C>T	ENSP00000278550:p.Glu1162Lys						p.E1162K	NM_001098816.2	NP_001092286.2					23	3946	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.3484G>A	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	36	5.661972	0.96734	.	.	ENSG00000149256	ENST00000278550	D	0.90004	-2.6	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.93946	0.8062	M	0.70842	2.15	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	D	0.93123	0.6526	9	.	.	.	.	19.1899	0.93660	0.0:1.0:0.0:0.0	.	1162	Q6N022	TEN4_HUMAN	K	1162	ENSP00000278550:E1162K	.	E	-	1	0	ODZ4	78114838	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.932000	0.70121	2.760000	0.94817	0.655000	0.94253	GAA		0.443	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			26	234	0	0	0	1	0	26	234					T	78437190	C	T	78437190	3	4	164	1	0	0	0	0	1	0	0	0	10837	835	29	2	4873	2	ODZ4	11	78437190	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	12386672	78437190	56569326	42	3412											
DDX25	29118	broad.mit.edu	37	chr11	125780286	125780286	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctagctcctacttatgaaTtggctctgcaaactggccgt	9	12	1	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr11:125780286T>C	ENST00000263576.6	+	7	690	c.535T>C	c.(535-537)Ttg>Ctg	p.L179L	RP11-680F20.9_ENST00000533033.2_RNA|DDX25_ENST00000525943.1_3'UTR	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	179	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		TACTTATGAATTGGCTCTGCA	0.448																																						ENST00000263576.6																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(535-537)Ttg>Ctg		DEAD (Asp-Glu-Ala-Asp) box helicase 25							201	189	193					11																	125780286		1933	4152	6085	SO:0001819	synonymous_variant	29118				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr11:125780286T>C	AF155140	CCDS44766.1	11q24	2012-02-23	2012-02-23		ENSG00000109832	ENSG00000109832		"DEAD-boxes"	18698	protein-coding gene	gene with protein product	"gonadotropin-regulated testicular RNA helicase"	607663	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 25", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 25"			10608860, 15096601	Standard	NM_013264		Approved	GRTH	uc001qcz.5	Q9UHL0	OTTHUMG00000165859	ENST00000263576.6:c.535T>C	11.37:g.125780286T>C						RP11-680F20.9_ENST00000533033.2_RNA|DDX25_ENST00000525943.1_3'UTR	p.L179L	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)	7	690	+	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	179			Helicase ATP-binding.		B2R6Z0|Q5XVN2|Q86W81|Q8IYP1	Silent	SNP	ENST00000263576.6	37	c.535T>C	CCDS44766.1	.	.	.	.	.	.	.	.	.	.	T	10.48	1.361799	0.24684	.	.	ENSG00000109832	ENST00000530129	.	.	.	5.82	-7.42	0.01388	.	.	.	.	.	T	0.72439	0.3460	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74636	-0.3599	4	.	.	.	-8.8261	21.2368	0.99949	0.0:0.7771:0.0:0.2229	.	.	.	.	T	190	.	.	I	+	2	0	DDX25	125285496	0.976000	0.34144	0.490000	0.27465	0.946000	0.59487	0.238000	0.18004	-1.383000	0.02106	0.533000	0.62120	ATT		0.448	DDX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386736.3	NM_013264		10	103	0	0	0	1	0	10	103					C	125780286	T	C	125780286	2	2	164	1	0	0	0	0	0	0	0	1	4352	1490	52	3		3	DDX25	11	125780286	Silent	SNP	T	TCGA-DO-A2HM-01B-11D-A22D-08	47343096	125780286	9226230	43	3413			1	10		2	2	33	N	T_G	8.992793e-05
DDX25	29118	broad.mit.edu	37	chr11	125780318	125780318	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actggccgtgtggttgagcaGatgggaaaattctgtgtgga	16	5	1	2			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr11:125780318G>A	ENST00000263576.6	+	7	722	c.567G>A	c.(565-567)caG>caA	p.Q189Q	RP11-680F20.9_ENST00000533033.2_RNA|DDX25_ENST00000525943.1_3'UTR	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	189	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		TGGTTGAGCAGATGGGAAAAT	0.478																																						ENST00000263576.6																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(565-567)caG>caA		DEAD (Asp-Glu-Ala-Asp) box helicase 25							237	224	228					11																	125780318		1946	4156	6102	SO:0001819	synonymous_variant	29118				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr11:125780318G>A	AF155140	CCDS44766.1	11q24	2012-02-23	2012-02-23		ENSG00000109832	ENSG00000109832		"DEAD-boxes"	18698	protein-coding gene	gene with protein product	"gonadotropin-regulated testicular RNA helicase"	607663	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 25", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 25"			10608860, 15096601	Standard	NM_013264		Approved	GRTH	uc001qcz.5	Q9UHL0	OTTHUMG00000165859	ENST00000263576.6:c.567G>A	11.37:g.125780318G>A						RP11-680F20.9_ENST00000533033.2_RNA|DDX25_ENST00000525943.1_3'UTR	p.Q189Q	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)	7	722	+	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	189			Helicase ATP-binding.		B2R6Z0|Q5XVN2|Q86W81|Q8IYP1	Silent	SNP	ENST00000263576.6	37	c.567G>A	CCDS44766.1																																																																																				0.478	DDX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386736.3	NM_013264		10	118	0	0	0	1	0	10	118					A	125780318	G	A	125780318	2	1	164	1	0	0	0	0	0	0	0	1	4352	933	33	2		2	DDX25	11	125780318	Silent	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	32	125780318	9226198	44	3414			1	10		2	2	33	N	T_G	8.992793e-05
CSDA	8531	broad.mit.edu	37	chr12	10862690	10862690	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttcactgctgccgctcccTtcctcctcctcctccccagc	4	24	1	0			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr12:10862690T>C	ENST00000228251.4	-	6	797	c.597A>G	c.(595-597)gaA>gaG	p.E199E	YBX3_ENST00000279550.7_Intron|YBX3_ENST00000546164.1_5'UTR	NM_003651.4	NP_003642.3	P16989	YBOX3_HUMAN	Y box binding protein 3	199					3'-UTR-mediated mRNA stabilization (GO:0070935)|cellular hyperosmotic response (GO:0071474)|cellular response to tumor necrosis factor (GO:0071356)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of necroptotic process (GO:0060546)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoplasmic translation (GO:2000767)|positive regulation of organ growth (GO:0046622)|response to cold (GO:0009409)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|tight junction (GO:0005923)	double-stranded DNA binding (GO:0003690)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|Rho GTPase binding (GO:0017048)|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 transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)										TGCCGCTCCCTTCCTCCTCCT	0.537																																						ENST00000228251.4																			0											c.(595-597)gaA>gaG		Y box binding protein 3							17	18	18					12																	10862690		2203	4300	6503	SO:0001819	synonymous_variant	8531							g.chr12:10862690T>C	L29064	CCDS8630.1, CCDS44831.1	12p13.1	2013-03-13	2013-03-13	2013-03-13	ENSG00000060138	ENSG00000060138			2428	protein-coding gene	gene with protein product	"cold-shock domain containing A1"	603437	"cold shock domain protein A"	CSDA		2977358, 8710501	Standard	NM_003651		Approved	dbpA, ZONAB, CSDA1	uc001qyt.3	P16989	OTTHUMG00000168409	ENST00000228251.4:c.597A>G	12.37:g.10862690T>C						YBX3_ENST00000546164.1_5'UTR|YBX3_ENST00000279550.7_Intron	p.E199E	NM_003651.4	NP_003642.3					6	797	-								B2RBW6|Q14121|Q969N6|Q96B76	Silent	SNP	ENST00000228251.4	37	c.597A>G	CCDS8630.1																																																																																				0.537	YBX3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399628.1	NM_003651		2	20	0	0	0	1	0	2	20					C	10862690	T	C	10862690	2	2	164	1	0	0	0	0	0	0	0	1	3927	1606	56	3		3	CSDA	12	10862690	Silent	SNP	T	TCGA-DO-A2HM-01B-11D-A22D-08		10862690	122989205	45	3415											
BCL2L14	79370	broad.mit.edu	37	chr12	12240312	12240312	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cgtgcctgtagcttcaagttCtaagaaaggtaagctttcct	9	9	2	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr12:12240312C>G	ENST00000308721.5	+	3	805	c.599C>G	c.(598-600)tCt>tGt	p.S200C	BCL2L14_ENST00000396367.1_Missense_Mutation_p.S200C|BCL2L14_ENST00000589718.1_Missense_Mutation_p.S200C|BCL2L14_ENST00000396369.1_Missense_Mutation_p.S200C|BCL2L14_ENST00000266434.4_Missense_Mutation_p.S200C|BCL2L14_ENST00000586576.1_Missense_Mutation_p.S233C	NM_138723.1	NP_620049.1	Q9BZR8	B2L14_HUMAN	BCL2-like 14 (apoptosis facilitator)	200					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular organelle (GO:0043229)|membrane (GO:0016020)	protein kinase binding (GO:0019901)			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		GCTTCAAGTTCTAAGAAAGGT	0.532																																						ENST00000266434.4																			0				large_intestine(1)|lung(2)|skin(3)	6						c.(598-600)tCt>tGt		BCL2-like 14 (apoptosis facilitator)							111	113	112					12																	12240312		2203	4300	6503	SO:0001583	missense	79370				apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding	g.chr12:12240312C>G	AF281254	CCDS8645.1, CCDS8646.1	12p13-p12	2014-03-07			ENSG00000121380	ENSG00000121380			16657	protein-coding gene	gene with protein product		606126				11054413	Standard	NM_030766		Approved	BCLG, BCL-G	uc001rac.3	Q9BZR8	OTTHUMG00000159528	ENST00000308721.5:c.599C>G	12.37:g.12240312C>G	ENSP00000309132:p.Ser200Cys					BCL2L14_ENST00000396367.1_Missense_Mutation_p.S200C|BCL2L14_ENST00000308721.5_Missense_Mutation_p.S200C|BCL2L14_ENST00000396369.1_Missense_Mutation_p.S200C|BCL2L14_ENST00000586576.1_Missense_Mutation_p.S233C|BCL2L14_ENST00000589718.1_Missense_Mutation_p.S200C	p.S200C	NM_030766.1	NP_110393.1	Q9BZR8	B2L14_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.154)	3	794	+		Prostate(47;0.0872)	200					A8KAD0|Q96QR5|Q9BZR7	Missense_Mutation	SNP	ENST00000308721.5	37	c.599C>G	CCDS8645.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124865	0.56613	.	.	ENSG00000121380	ENST00000308721;ENST00000266434;ENST00000396369;ENST00000396367	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	3.11	1.24	0.21308	.	0.704873	0.12042	N	0.504963	T	0.34454	0.0898	L	0.47716	1.5	0.09310	N	1	D;D	0.69078	0.997;0.992	P;P	0.54460	0.753;0.719	T	0.15263	-1.0443	10	0.87932	D	0	-0.045	4.4836	0.11780	0.0:0.6388:0.2308:0.1304	.	200;200	Q9BZR8-2;Q9BZR8	.;B2L14_HUMAN	C	200	ENSP00000309132:S200C;ENSP00000266434:S200C;ENSP00000379655:S200C;ENSP00000379653:S200C	ENSP00000266434:S200C	S	+	2	0	BCL2L14	12131579	0.002000	0.14202	0.015000	0.15790	0.936000	0.57629	0.562000	0.23531	0.347000	0.23924	0.655000	0.94253	TCT		0.532	BCL2L14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355994.3	NM_030766		5	57	0	0	0	1	0	5	57					G	12240312	C	G	12240312	3	3	164	1	0	0	0	0	1	0	0	0	1372	913	32	4	605	4	BCL2L14	12	12240312	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	1377622	12240312	121611583	46	3416											
GRIN2B	2904	broad.mit.edu	37	chr12	13906627	13906627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attctggatcttagaatctcCatcgtccagggacatgtcca	8	11	3	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr12:13906627C>T	ENST00000609686.1	-	3	843	c.634G>A	c.(634-636)Gga>Aga	p.G212R		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	212					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|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)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTAGAATCTCCATCGTCCAGG	0.473																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(634-636)Gga>Aga		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						141	140	141					12																	13906627		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13906627C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.634G>A	12.37:g.13906627C>T	ENSP00000477455:p.Gly212Arg						p.G212R	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			3	843	-			212					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.634G>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.226798	0.39399	.	.	ENSG00000150086	ENST00000279593	D	0.82803	-1.65	5.27	5.27	0.74061	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.82518	0.5054	L	0.50333	1.59	0.58432	D	0.999999	P	0.47762	0.9	P	0.48704	0.587	T	0.82568	-0.0392	10	0.45353	T	0.12	.	12.272	0.54712	0.0:0.9225:0.0:0.0775	.	212	Q13224	NMDE2_HUMAN	R	212	ENSP00000279593:G212R	ENSP00000279593:G212R	G	-	1	0	GRIN2B	13797894	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.519000	0.60517	2.454000	0.82982	0.561000	0.74099	GGA		0.473	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			6	78	0	0	0	1	0	6	78					T	13906627	C	T	13906627	3	4	164	1	0	0	0	0	1	0	0	0	6780	603	21	2	3864	2	GRIN2B	12	13906627	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	1666315	13906627	119945268	47	3417											
ADAMTS20	80070	broad.mit.edu	37	chr12	43858536	43858536	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacattccccgtaaccagtaCtgtaacagtgacagaaaata	7	10	0	2			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr12:43858536C>T	ENST00000389420.3	-	10	1367		c.e10-1		ADAMTS20_ENST00000553158.1_Splice_Site	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20						extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GTAACCAGTACTGTAACAGTG	0.343																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.e10-1		ADAM metallopeptidase with thrombospondin type 1 motif, 20							61	57	59					12																	43858536		2203	4300	6503	SO:0001630	splice_region_variant	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43858536C>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1368-1G>A	12.37:g.43858536C>T						ADAMTS20_ENST00000553158.1_Splice_Site		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	10	1367	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)						A6NNC9|J3QT00	Splice_Site	SNP	ENST00000389420.3	37		CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823836	0.32237	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6296	0.91355	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADAMTS20	42144803	1.000000	0.71417	0.981000	0.43875	0.030000	0.12068	7.427000	0.80284	2.563000	0.86464	0.591000	0.81541	.		0.343	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	Intron	4	20	0	0	0	1	0	4	20					T	43858536	C	T	43858536	5	4	164	1	0	0	0	0	0	0	1	0	266	579	20	2	4484	2	ADAMTS20	12	43858536	Splice_Site	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	29951909	43858536	89993359	48	3418											
ARID2	196528	broad.mit.edu	37	chr12	46244997	46244997	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agcaggtacaagtacaagttCagcagccccaacaagtacag	9	11	1	0			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr12:46244997C>T	ENST00000334344.6	+	15	3263	c.3091C>T	c.(3091-3093)Cag>Tag	p.Q1031*	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q641*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q882*|ARID2_ENST00000457135.1_5'Flank	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1031	Gln-rich.				chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGTACAAGTTCAGCAGCCCCA	0.502			"N, S, F"		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"N, S, F"	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(3091-3093)Cag>Tag		AT rich interactive domain 2 (ARID, RFX-like)							195	147	163					12																	46244997		2203	4300	6503	SO:0001587	stop_gained	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46244997C>T		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3091C>T	12.37:g.46244997C>T	ENSP00000335044:p.Gln1031*					ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q641*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q882*	p.Q1031*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	3263	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1031			Gln-rich.		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Nonsense_Mutation	SNP	ENST00000334344.6	37	c.3091C>T	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	C	40	8.435846	0.98810	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670	.	.	.	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-3.6292	19.7188	0.96134	0.0:1.0:0.0:0.0	.	.	.	.	X	1031;148;148;882;641	.	ENSP00000335044:Q1031X	Q	+	1	0	ARID2	44531264	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.702000	0.61817	2.671000	0.90904	0.462000	0.41574	CAG		0.502	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		9	78	0	0	0	1	0	9	78					T	46244997	C	T	46244997	4	4	164	1	0	0	0	0	0	1	0	0	915	827	29	2	3149	2	ARID2	12	46244997	Nonsense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	2386461	46244997	87606898	49	3419											
ACVR1B	91	broad.mit.edu	37	chr12	52345548	52345548	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggcggagtcggccggagcCtcctccttcttcccccttgt	11	16	1	0			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr12:52345548C>T	ENST00000257963.4	+	1	98	c.21C>T	c.(19-21)gcC>gcT	p.A7A	ACVR1B_ENST00000541224.1_Silent_p.A7A|ACVR1B_ENST00000426655.2_Silent_p.A7A|ACVR1B_ENST00000542485.1_5'Flank|ACVR1B_ENST00000415850.2_Silent_p.A7A	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	7					activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	CGGCCGGAGCCTCCTCCTTCT	0.806																																						ENST00000257963.4																			0				breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44						c.(19-21)gcC>gcT		activin A receptor, type IB	Adenosine triphosphate(DB00171)						7	10	9					12																	52345548		2092	4113	6205	SO:0001819	synonymous_variant	91				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	g.chr12:52345548C>T		CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.21C>T	12.37:g.52345548C>T						ACVR1B_ENST00000426655.2_Silent_p.A7A|ACVR1B_ENST00000415850.2_Silent_p.A7A|ACVR1B_ENST00000541224.1_Silent_p.A7A	p.A7A	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.104)	1	98	+			7					B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Silent	SNP	ENST00000257963.4	37	c.21C>T	CCDS8816.1																																																																																				0.806	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328		3	8	0	0	0	1	0	3	8					T	52345548	C	T	52345548	2	4	164	1	0	0	0	0	0	0	0	1	221	668	24	2		2	ACVR1B	12	52345548	Silent	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	6100551	52345548	81506347	50	3420											
COPZ1	22818	broad.mit.edu	37	chr12	54741787	54741787	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttctttgtttttgcagggtGatcctagagagtgatcccca	10	9	1	3			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr12:54741787G>A	ENST00000262061.2	+	7	436	c.399G>A	c.(397-399)gtG>gtA	p.V133V	COPZ1_ENST00000548753.1_Silent_p.V45V|COPZ1_ENST00000549043.1_Silent_p.V141V|RP11-968A15.8_ENST00000553061.1_RNA|COPZ1_ENST00000549116.1_Silent_p.V75V|COPZ1_ENST00000548281.1_3'UTR|COPZ1_ENST00000553231.1_Silent_p.V110V|COPZ1_ENST00000552218.1_Silent_p.V154V|COPZ1_ENST00000416254.2_Silent_p.V82V|COPZ1_ENST00000552362.1_Silent_p.V133V|COPZ1_ENST00000455864.2_Silent_p.V110V|COPZ1_ENST00000551779.1_Silent_p.V133V	NM_001271734.1|NM_001271736.1|NM_016057.1	NP_001258663.1|NP_001258665.1|NP_057141.1	P61923	COPZ1_HUMAN	coatomer protein complex, subunit zeta 1	133					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)				kidney(1)|lung(4)	5						TTTGCAGGGTGATCCTAGAGA	0.512																																						ENST00000262061.2																			0				kidney(1)|lung(4)	5						c.(397-399)gtG>gtA		coatomer protein complex, subunit zeta 1							163	156	159					12																	54741787		2203	4300	6503	SO:0001819	synonymous_variant	22818				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol		g.chr12:54741787G>A	AF151878	CCDS8877.1, CCDS61137.1, CCDS61138.1, CCDS61139.1	12q13.2-q13.3	2008-02-05		2003-07-23					2243	protein-coding gene	gene with protein product		615472	"coatomer protein complex, subunit zeta"	COPZ			Standard	NM_001271734		Approved	CGI-120	uc009znm.2	P61923		ENST00000262061.2:c.399G>A	12.37:g.54741787G>A						COPZ1_ENST00000548753.1_Silent_p.V45V|COPZ1_ENST00000553231.1_Silent_p.V110V|COPZ1_ENST00000549043.1_Silent_p.V141V|COPZ1_ENST00000416254.2_Silent_p.V82V|COPZ1_ENST00000552218.1_Silent_p.V154V|COPZ1_ENST00000549116.1_Silent_p.V75V|COPZ1_ENST00000552362.1_Silent_p.V133V|COPZ1_ENST00000548281.1_3'UTR|COPZ1_ENST00000551779.1_Silent_p.V133V|COPZ1_ENST00000455864.2_Silent_p.V110V	p.V133V	NM_001271734.1|NM_001271736.1|NM_016057.1	NP_001258663.1|NP_001258665.1|NP_057141.1	P61923	COPZ1_HUMAN			7	436	+			133					B4DDX8|B4DHZ0|F8VS17|F8VWL5|Q549N6|Q9Y3C3	Silent	SNP	ENST00000262061.2	37	c.399G>A	CCDS8877.1																																																																																				0.512	COPZ1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405753.1	NM_016057		8	69	0	0	0	1	0	8	69					A	54741787	G	A	54741787	2	1	164	1	0	0	0	0	0	0	0	1	3741	1277	45	2		2	COPZ1	12	54741787	Silent	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	2396239	54741787	79110108	51	3421											
CHST11	50515	broad.mit.edu	37	chr12	104851270	104851270	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	acttgcttgggatcctttatCctggtcatcttctatttcca	6	11	3	0			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr12:104851270C>A	ENST00000303694.5	+	1	520	c.81C>A	c.(79-81)atC>atA	p.I27I	CHST11_ENST00000547956.1_Silent_p.I27I|CHST11_ENST00000546689.1_Silent_p.I27I|CHST11_ENST00000549260.1_Silent_p.I27I	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	27					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						GATCCTTTATCCTGGTCATCT	0.532																																						ENST00000303694.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						c.(79-81)atC>atA		carbohydrate (chondroitin 4) sulfotransferase 11							218	202	208					12																	104851270		2203	4300	6503	SO:0001819	synonymous_variant	50515				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr12:104851270C>A	AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"Sulfotransferases, membrane-bound"	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.81C>A	12.37:g.104851270C>A						CHST11_ENST00000546689.1_Silent_p.I27I|CHST11_ENST00000547956.1_Silent_p.I27I|CHST11_ENST00000549260.1_Silent_p.I27I	p.I27I	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN			1	520	+			27					A8K4F8|Q9NXY6|Q9NY36	Silent	SNP	ENST00000303694.5	37	c.81C>A	CCDS9099.1																																																																																				0.532	CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2	NM_018413		6	91	1	0	0.00116845	1	0.00119049	6	91					A	104851270	C	A	104851270	2	1	164	1	0	0	0	0	0	0	0	1	3399	845	30	4		4	CHST11	12	104851270	Silent	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	50109483	104851270	29000625	52	3422											
TPT1	7178	broad.mit.edu	37	chr13	45914212	45914212	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgatggttcatgacaatatcGacaccagtgattactgtgct	9	8	1	3			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr13:45914212G>A	ENST00000530705.1	-	3	510	c.210C>T	c.(208-210)gtC>gtT	p.V70V	TPT1-AS1_ENST00000520310.1_RNA|SNORA31_ENST00000362607.1_RNA|TPT1-AS1_ENST00000520622.1_RNA|TPT1_ENST00000309246.5_Silent_p.V70V|TPT1-AS1_ENST00000521336.1_RNA|TPT1-AS1_ENST00000523506.1_RNA|TPT1-AS1_ENST00000520590.1_RNA|TPT1-AS1_ENST00000517509.1_RNA|TPT1_ENST00000379060.4_Silent_p.V58V|TPT1_ENST00000379055.1_Silent_p.V36V|TPT1-AS1_ENST00000412946.2_RNA|RP11-290D2.6_ENST00000610057.1_RNA|TPT1_ENST00000379056.1_Silent_p.V36V|TPT1_ENST00000529421.1_5'UTR			P13693	TCTP_HUMAN	tumor protein, translationally-controlled 1	70					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ectoderm development (GO:2000384)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|regulation of apoptotic process (GO:0042981)|response to virus (GO:0009615)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|multivesicular body (GO:0005771)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			lung(1)	1		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000232)		TGACAATATCGACACCAGTGA	0.458																																						ENST00000379056.1																			0				lung(1)	1						c.(106-108)gtC>gtT		tumor protein, translationally-controlled 1							145	123	130					13																	45914212		2203	4300	6503	SO:0001819	synonymous_variant	7178				anti-apoptosis|response to virus	extracellular space|multivesicular body	calcium ion binding|protein binding	g.chr13:45914212G>A	X16064	CCDS9397.1, CCDS66538.1, CCDS73566.1	13q14	2010-08-18			ENSG00000133112	ENSG00000133112			12022	protein-coding gene	gene with protein product		600763				2813067, 10343127	Standard	NM_001286273		Approved	TCTP, fortilin	uc001uzy.1	P13693	OTTHUMG00000016845	ENST00000530705.1:c.210C>T	13.37:g.45914212G>A						TPT1_ENST00000309246.5_Silent_p.V70V|TPT1_ENST00000379060.4_Silent_p.V58V|TPT1_ENST00000530705.1_Silent_p.V70V|TPT1_ENST00000379055.1_Silent_p.V36V|TPT1_ENST00000529421.1_5'UTR	p.V36V			P13693	TCTP_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000232)	2	278	-		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	70					B2R7E5|Q6YLS2|Q7Z4J4|Q8TBK7|Q96EE2|Q9UC70	Silent	SNP	ENST00000530705.1	37	c.108C>T	CCDS9397.1																																																																																				0.458	TPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044758.3			7	76	0	0	0	1	0	7	76					A	45914212	G	A	45914212	2	1	164	1	0	0	0	0	0	0	0	1	16426	1045	37	1		1	TPT1	13	45914212	Silent	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08		45914212	69255666	53	3423											
EBPL	84650	broad.mit.edu	37	chr13	50237326	50237326	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcatcagctttgccatattCtttccctaaagacaaaatcc	4	12	2	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr13:50237326C>T	ENST00000242827.6	-	3	297	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	EBPL_ENST00000378272.5_Intron|EBPL_ENST00000378284.2_Missense_Mutation_p.E83K|EBPL_ENST00000378270.5_Intron|EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378282.5_Intron	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	83					sterol metabolic process (GO:0016125)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholestenol delta-isomerase activity (GO:0047750)			endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		TTGCCATATTCTTTCCCTAAA	0.398																																					NSCLC(39;857 1083 36109 42364 51411)	ENST00000378284.2																			0				endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(247-249)Gaa>Aaa		emopamil binding protein-like							118	105	110					13																	50237326		2203	4300	6503	SO:0001583	missense	84650				sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity	g.chr13:50237326C>T	AF243433	CCDS9420.1, CCDS61334.1	13q12-q13	2008-02-05			ENSG00000123179	ENSG00000123179			18061	protein-coding gene	gene with protein product							Standard	NM_032565		Approved	EBRP	uc001vdg.3	Q9BY08	OTTHUMG00000016920	ENST00000242827.6:c.247G>A	13.37:g.50237326C>T	ENSP00000242827:p.Glu83Lys					EBPL_ENST00000378270.5_Intron|EBPL_ENST00000242827.6_Missense_Mutation_p.E83K|EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378272.5_Intron|EBPL_ENST00000378282.5_Intron	p.E83K	NM_001278636.1	NP_001265565.1	Q9BY08	EBPL_HUMAN		GBM - Glioblastoma multiforme(99;2.06e-09)	3	285	-		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	83					A6NJ59|Q569H7|Q5JVN2|Q5JVN3|Q5JVN4|Q5JVN5|Q5JVN6	Missense_Mutation	SNP	ENST00000242827.6	37	c.247G>A	CCDS9420.1	.	.	.	.	.	.	.	.	.	.	C	31	5.097700	0.94197	.	.	ENSG00000123179	ENST00000242827	D	0.98381	-4.9	5.9	5.9	0.94986	.	0.106801	0.64402	D	0.000012	D	0.99227	0.9731	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.99320	1.0906	9	.	.	.	-6.597	19.115	0.93334	0.0:1.0:0.0:0.0	.	83	Q9BY08	EBPL_HUMAN	K	83	ENSP00000242827:E83K	.	E	-	1	0	EBPL	49135327	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.769000	0.62300	2.821000	0.97095	0.555000	0.69702	GAA		0.398	EBPL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044932.2	NM_032565		6	81	0	0	0	1	0	6	81					T	50237326	C	T	50237326	3	4	164	1	0	0	0	0	1	0	0	0	4887	922	32	2	381	2	EBPL	13	50237326	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	4323114	50237326	64932552	54	3424											
FARP1	10160	broad.mit.edu	37	chr13	99063014	99063014	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccaactgataaagcgtacttCatagctaaggaagtgtctac	8	9	2	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr13:99063014C>T	ENST00000319562.6	+	15	1894	c.1629C>T	c.(1627-1629)ttC>ttT	p.F543F	FARP1_ENST00000595437.1_Silent_p.F543F|FARP1_ENST00000376586.2_Silent_p.F543F	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	543	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AAGCGTACTTCATAGCTAAGG	0.408																																						ENST00000376586.2																			0				breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49						c.(1627-1629)ttC>ttT		FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)							133	113	120					13																	99063014		2203	4300	6503	SO:0001819	synonymous_variant	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99063014C>T	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"Rho guanine nucleotide exchange factors", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Pleckstrin homology (PH) domain containing"	3591	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 75"	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.1629C>T	13.37:g.99063014C>T						FARP1_ENST00000595437.1_Silent_p.F543F|FARP1_ENST00000319562.6_Silent_p.F543F	p.F543F			Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		15	1965	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		543			DH.		Q5JVI9|Q6IQ29	Silent	SNP	ENST00000319562.6	37	c.1629C>T	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	C	4.622	0.115587	0.08831	.	.	ENSG00000152767	ENST00000457029	.	.	.	5.79	4.95	0.65309	.	.	.	.	.	T	0.63414	0.2509	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62062	-0.6933	4	.	.	.	.	11.8041	0.52143	0.0:0.8596:0.0:0.1404	.	.	.	.	L	72	.	.	S	+	2	0	FARP1	97861015	1.000000	0.71417	0.999000	0.59377	0.380000	0.30137	1.289000	0.33307	1.443000	0.47586	0.655000	0.94253	TCA		0.408	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		3	28	0	0	0	1	0	3	28					T	99063014	C	T	99063014	2	4	164	1	0	0	0	0	0	0	0	1	5676	825	29	2		2	FARP1	13	99063014	Silent	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	48825688	99063014	16106864	55	3425											
UBR1	197131	broad.mit.edu	37	chr15	43348594	43348594	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtgcagttatagagatacttCtgtcatgatcatcactgata	8	7	4	3			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr15:43348594C>G	ENST00000290650.4	-	11	1307	c.1229G>C	c.(1228-1230)aGa>aCa	p.R410T	UBR1_ENST00000382177.2_Missense_Mutation_p.R410T	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	410					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AGAGATACTTCTGTCATGATC	0.284																																						ENST00000290650.4																			0				NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58						c.(1228-1230)aGa>aCa		ubiquitin protein ligase E3 component n-recognin 1							116	120	119					15																	43348594		2203	4298	6501	SO:0001583	missense	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43348594C>G		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"Ubiquitin protein ligase E3 component n-recognins"	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.1229G>C	15.37:g.43348594C>G	ENSP00000290650:p.Arg410Thr					UBR1_ENST00000382177.2_Missense_Mutation_p.R410T	p.R410T	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	11	1307	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	410					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	c.1229G>C	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459484	0.84317	.	.	ENSG00000159459	ENST00000290650;ENST00000382177;ENST00000546274	T;T	0.70749	0.32;-0.51	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.74997	0.3790	M	0.66939	2.045	0.58432	D	0.999993	P;D	0.59767	0.749;0.986	B;P	0.53266	0.412;0.722	T	0.71424	-0.4597	10	0.22706	T	0.39	-16.4846	13.1215	0.59329	0.0:0.9237:0.0:0.0763	.	410;410	B4DYL2;Q8IWV7	.;UBR1_HUMAN	T	410	ENSP00000290650:R410T;ENSP00000371612:R410T	ENSP00000290650:R410T	R	-	2	0	UBR1	41135886	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.466000	0.60148	2.675000	0.91044	0.650000	0.86243	AGA		0.284	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		5	88	0	0	0	1	0	5	88					G	43348594	C	G	43348594	3	3	164	1	0	0	0	0	1	0	0	0	16898	913	32	4	4168	4	UBR1	15	43348594	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08		43348594	59182798	56	3426											
SYT17	51760	broad.mit.edu	37	chr16	19195026	19195026	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctcgactccaacagcgacGatgtggactctctgacagac	9	15	1	2			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr16:19195026G>A	ENST00000355377.2	+	5	906	c.508G>A	c.(508-510)Gat>Aat	p.D170N	SYT17_ENST00000568115.1_Missense_Mutation_p.D109N|SYT17_ENST00000562711.2_Missense_Mutation_p.D166N|SYT17_ENST00000562034.1_Missense_Mutation_p.D109N	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	170					exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						CAACAGCGACGATGTGGACTC	0.567																																						ENST00000562034.1																			0				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						c.(325-327)Gat>Aat		synaptotagmin XVII							98	78	85					16																	19195026		2197	4300	6497	SO:0001583	missense	51760					membrane|synaptic vesicle	transporter activity	g.chr16:19195026G>A		CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"Synaptotagmins"	24119	protein-coding gene	gene with protein product	"B/K protein"					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.508G>A	16.37:g.19195026G>A	ENSP00000347538:p.Asp170Asn					SYT17_ENST00000355377.2_Missense_Mutation_p.D170N|SYT17_ENST00000562711.2_Missense_Mutation_p.D166N|SYT17_ENST00000568115.1_Missense_Mutation_p.D109N	p.D109N			Q9BSW7	SYT17_HUMAN			3	4123	+			170					O43330|Q9NZ18	Missense_Mutation	SNP	ENST00000355377.2	37	c.325G>A	CCDS10575.1	.	.	.	.	.	.	.	.	.	.	g	27.1	4.800763	0.90538	.	.	ENSG00000103528	ENST00000355377	T	0.18174	2.23	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000002	T	0.33990	0.0882	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77557	0.959;0.99	T	0.03630	-1.1018	10	0.59425	D	0.04	.	19.4121	0.94679	0.0:0.0:1.0:0.0	.	170;109	Q9BSW7;B4DJB2	SYT17_HUMAN;.	N	170	ENSP00000347538:D170N	ENSP00000347538:D170N	D	+	1	0	SYT17	19102527	1.000000	0.71417	0.961000	0.40146	0.397000	0.30659	7.331000	0.79192	2.573000	0.86826	0.556000	0.70494	GAT		0.567	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254286.2	NM_016524		9	75	0	0	0	1	0	9	75					A	19195026	G	A	19195026	3	1	164	1	0	0	0	0	1	0	0	0	15470	1058	37	1	526	1	SYT17	16	19195026	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08		19195026	71159727	57	3427											
TMC5	79838	broad.mit.edu	37	chr16	19451644	19451644	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	caatgcatactctgcagcctCtagaacaagcccagaccatc	6	15	2	2			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr16:19451644C>G	ENST00000396229.2	+	3	1033	c.284C>G	c.(283-285)tCt>tGt	p.S95C	TMC5_ENST00000381414.4_Missense_Mutation_p.S95C|TMC5_ENST00000541464.1_Missense_Mutation_p.S95C|TMC5_ENST00000542583.2_Missense_Mutation_p.S95C	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	95					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCTGCAGCCTCTAGAACAAGC	0.483																																						ENST00000396229.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(283-285)tCt>tGt		transmembrane channel-like 5							150	149	149					16																	19451644		1948	4140	6088	SO:0001583	missense	79838					integral to membrane		g.chr16:19451644C>G	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.284C>G	16.37:g.19451644C>G	ENSP00000379531:p.Ser95Cys					TMC5_ENST00000381414.4_Missense_Mutation_p.S95C|TMC5_ENST00000542583.2_Missense_Mutation_p.S95C|TMC5_ENST00000541464.1_Missense_Mutation_p.S95C	p.S95C	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN			3	1033	+			95					Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	c.284C>G	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.195178	0.38806	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583	T;T;T;T	0.72167	-0.48;-0.38;-0.63;-0.63	4.32	3.37	0.38596	.	52.471000	0.00166	N	0.000000	T	0.81837	0.4907	M	0.68952	2.095	0.09310	N	1	D;D;D	0.67145	0.996;0.993;0.996	P;P;P	0.61592	0.891;0.628;0.891	T	0.56709	-0.7934	10	0.66056	D	0.02	-6.0862	7.7437	0.28856	0.0:0.8851:0.0:0.1149	.	95;95;95	F5GYU8;Q6UXY8;Q6UXY8-2	.;TMC5_HUMAN;.	C	95	ENSP00000441227:S95C;ENSP00000370822:S95C;ENSP00000379531:S95C;ENSP00000446274:S95C	ENSP00000370822:S95C	S	+	2	0	TMC5	19359145	0.022000	0.18835	0.004000	0.12327	0.005000	0.04900	1.813000	0.38962	1.022000	0.39626	0.591000	0.81541	TCT		0.483	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		16	149	0	0	0	1	0	16	149					G	19451644	C	G	19451644	3	3	164	1	0	0	0	0	1	0	0	0	15985	913	32	4	286	4	TMC5	16	19451644	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	256618	19451644	70903109	58	3428											
SIAH1	6477	broad.mit.edu	37	chr16	48395650	48395650	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccaagtcaatcgtcgcctAtgaccatttagctcaagtcg	7	13	2	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr16:48395650A>G	ENST00000380006.2	-	1	2143	c.690T>C	c.(688-690)caT>caC	p.H230H	SIAH1_ENST00000356721.3_Silent_p.H261H|LONP2_ENST00000564259.1_3'UTR|SIAH1_ENST00000394725.2_Silent_p.H230H			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	230	SBD.				anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell cycle (GO:0007049)|nervous system development (GO:0007399)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein catabolic process (GO:0030163)|protein destabilization (GO:0031648)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				ATCGTCGCCTATGACCATTTA	0.443																																						ENST00000380006.2																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7						c.(688-690)caT>caC		siah E3 ubiquitin protein ligase 1							123	104	110					16																	48395650		2200	4300	6500	SO:0001819	synonymous_variant	6477				axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:48395650A>G	U76247	CCDS10735.1, CCDS32444.1	16q12.1	2013-06-03	2012-02-23		ENSG00000196470	ENSG00000196470			10857	protein-coding gene	gene with protein product		602212	"seven in absentia homolog 1 (Drosophila)"			9403064, 9334332	Standard	NM_001006610		Approved	hSIAH1	uc002efo.1	Q8IUQ4	OTTHUMG00000175417	ENST00000380006.2:c.690T>C	16.37:g.48395650A>G						SIAH1_ENST00000356721.3_Silent_p.H261H|SIAH1_ENST00000394725.2_Silent_p.H230H|LONP2_ENST00000564259.1_3'UTR	p.H230H			Q8IUQ4	SIAH1_HUMAN			1	2143	-		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)	230			SBD.		A0FKF3|O43269|Q49A58|Q92880	Silent	SNP	ENST00000380006.2	37	c.690T>C	CCDS10735.1																																																																																				0.443	SIAH1-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256842.12			3	34	0	0	0	1	0	3	34					G	48395650	A	G	48395650	2	3	164	1	0	0	0	0	0	0	0	1	14299	446	16	3		3	SIAH1	16	48395650	Silent	SNP	A	TCGA-DO-A2HM-01B-11D-A22D-08	28944006	48395650	41959103	59	3429											
CTCF	10664	broad.mit.edu	37	chr16	67663340	67663340	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctgataattgtgctggcccaGatggcgtagagggggaaaat	15	6	0	3			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr16:67663340G>C	ENST00000264010.4	+	10	2185	c.1741G>C	c.(1741-1743)Gat>Cat	p.D581H	CTCF_ENST00000401394.1_Missense_Mutation_p.D253H	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	581					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		TGCTGGCCCAGATGGCGTAGA	0.408																																					Colon(175;1200 1966 6945 23069 27405)	ENST00000264010.4																			0				breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79						c.(1741-1743)Gat>Cat		CCCTC-binding factor (zinc finger protein)							131	121	124					16																	67663340		2198	4300	6498	SO:0001583	missense	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67663340G>C	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"Zinc fingers, C2H2-type"	13723	protein-coding gene	gene with protein product	"11 zinc finger transcriptional repressor"	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1741G>C	16.37:g.67663340G>C	ENSP00000264010:p.Asp581His					CTCF_ENST00000401394.1_Missense_Mutation_p.D253H	p.D581H	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	10	2185	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	581					B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	37	c.1741G>C	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247577	0.80024	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	T;T	0.08807	3.05;3.08	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000002	T	0.19167	0.0460	N	0.24115	0.695	0.58432	D	0.999999	D;D	0.76494	0.984;0.999	P;D	0.77557	0.527;0.99	T	0.01998	-1.1232	10	0.62326	D	0.03	-4.7454	19.0838	0.93194	0.0:0.0:1.0:0.0	.	253;581	B5MC38;P49711	.;CTCF_HUMAN	H	581;253	ENSP00000264010:D581H;ENSP00000384707:D253H	ENSP00000264010:D581H	D	+	1	0	CTCF	66220841	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	8.589000	0.90817	2.625000	0.88918	0.313000	0.20887	GAT		0.408	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		7	57	0	0	0	1	0	7	57					C	67663340	G	C	67663340	3	2	164	1	0	0	0	0	1	0	0	0	4000	942	33	4	1771	4	CTCF	16	67663340	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	19267690	67663340	22691413	60	3430											
SLC12A4	6560	broad.mit.edu	37	chr16	67979417	67979417	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctcgtccgagtacaggctctCcagccgcagggccgagtgcc	13	16	1	0			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr16:67979417C>G	ENST00000316341.3	-	22	3027	c.2887G>C	c.(2887-2889)Gag>Cag	p.E963Q	SLC12A4_ENST00000537830.2_Missense_Mutation_p.E957Q|SLC12A4_ENST00000576616.1_Missense_Mutation_p.E963Q|SLC12A4_ENST00000338335.3_3'UTR|SLC12A4_ENST00000422611.2_Missense_Mutation_p.E965Q|LCAT_ENST00000264005.5_5'Flank|SLC12A4_ENST00000541864.2_Missense_Mutation_p.E932Q|SLC12A4_ENST00000572037.1_Missense_Mutation_p.E915Q|CTC-479C5.17_ENST00000590594.1_lincRNA	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	963					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TACAGGCTCTCCAGCCGCAGG	0.597																																						ENST00000422611.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(2893-2895)Gag>Cag		solute carrier family 12 (potassium/chloride transporter), member 4	Bumetanide(DB00887)|Potassium Chloride(DB00761)						65	65	65					16																	67979417		2197	4300	6497	SO:0001583	missense	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67979417C>G		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"Solute carriers"	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.2887G>C	16.37:g.67979417C>G	ENSP00000318557:p.Glu963Gln					SLC12A4_ENST00000572037.1_Missense_Mutation_p.E915Q|SLC12A4_ENST00000338335.3_3'UTR|SLC12A4_ENST00000541864.2_Missense_Mutation_p.E932Q|SLC12A4_ENST00000537830.2_Missense_Mutation_p.E957Q|SLC12A4_ENST00000316341.3_Missense_Mutation_p.E963Q|SLC12A4_ENST00000576616.1_Missense_Mutation_p.E963Q	p.E965Q	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	21	2932	-		Ovarian(137;0.192)	963					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	c.2893G>C	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.775782	0.31411	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000316341	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	5.43	5.43	0.79202	K/Cl co-transporter, type 1/type 3 (1);	0.279194	0.35124	N	0.003437	T	0.78929	0.4361	N	0.08118	0	0.80722	D	1	B;B;B;B;B;B	0.31625	0.016;0.001;0.214;0.001;0.035;0.332	B;B;B;B;B;B	0.37480	0.015;0.027;0.239;0.009;0.062;0.251	T	0.75291	-0.3369	10	0.17832	T	0.49	.	19.2529	0.93932	0.0:1.0:0.0:0.0	.	965;957;932;957;963;963	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	Q	965;932;957;963	ENSP00000395983:E965Q;ENSP00000438334:E932Q;ENSP00000445962:E957Q;ENSP00000318557:E963Q	ENSP00000318557:E963Q	E	-	1	0	SLC12A4	66536918	0.006000	0.16342	0.999000	0.59377	0.672000	0.39443	1.443000	0.35057	2.557000	0.86248	0.557000	0.71058	GAG		0.597	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		5	76	0	0	0	1	0	5	76					G	67979417	C	G	67979417	3	3	164	1	0	0	0	0	1	0	0	0	14385	864	30	4	382	4	SLC12A4	16	67979417	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	316077	67979417	22375336	61	3431											
CIRH1A	84916	broad.mit.edu	37	chr16	69201033	69201033	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atttcctcccacgaatgaatCagatgtcatccggaggcgca	9	12	2	2			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr16:69201033C>G	ENST00000314423.7	+	16	2066	c.1889C>G	c.(1888-1890)tCa>tGa	p.S630*	CIRH1A_ENST00000352319.4_Nonsense_Mutation_p.S515*|CIRH1A_ENST00000563094.1_3'UTR			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	630					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		ACGAATGAATCAGATGTCATC	0.363																																					Melanoma(69;1156 1278 4951 8715 52012)	ENST00000314423.7																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16						c.(1888-1890)tCa>tGa		cirrhosis, autosomal recessive 1A (cirhin)							123	125	124					16																	69201033		2198	4300	6498	SO:0001587	stop_gained	84916					nucleolus	protein binding	g.chr16:69201033C>G	AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"WD repeat domain containing"	1983	protein-coding gene	gene with protein product	"UTP4, small subunit (SSU) processome component, homolog (yeast)"	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.1889C>G	16.37:g.69201033C>G	ENSP00000327179:p.Ser630*					CIRH1A_ENST00000352319.4_Nonsense_Mutation_p.S515*|CIRH1A_ENST00000563094.1_3'UTR	p.S630*			Q969X6	CIR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.125)	16	2066	+			630					Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Nonsense_Mutation	SNP	ENST00000314423.7	37	c.1889C>G	CCDS10872.1	.	.	.	.	.	.	.	.	.	.	C	40	8.494468	0.98836	.	.	ENSG00000141076	ENST00000314423;ENST00000352319	.	.	.	6.03	6.03	0.97812	.	0.241223	0.43260	D	0.000585	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	18.0507	0.89347	0.0:1.0:0.0:0.0	.	.	.	.	X	630;515	.	ENSP00000327179:S630X	S	+	2	0	CIRH1A	67758534	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.949000	0.63596	2.861000	0.98227	0.655000	0.94253	TCA		0.363	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2	NM_032830		4	84	0	0	0	1	0	4	84					G	69201033	C	G	69201033	4	3	164	1	0	0	0	0	0	1	0	0	3434	838	29	4	1947	4	CIRH1A	16	69201033	Nonsense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	1221616	69201033	21153720	62	3432											
DEF8	54849	broad.mit.edu	37	chr16	90020690	90020690	+	Silent	SNP	C	C	T													gatgagaagctggcccgtttCcggcaggcccacctcaaccc							TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr16:90020690C>T	ENST00000268676.7	+	3	302	c.213C>T	c.(211-213)ttC>ttT	p.F71F	DEF8_ENST00000567874.1_Intron|DEF8_ENST00000563594.1_Silent_p.F10F|DEF8_ENST00000418391.2_Silent_p.F10F|DEF8_ENST00000569453.1_Silent_p.F10F|DEF8_ENST00000563795.1_Silent_p.F10F|DEF8_ENST00000570182.1_Silent_p.F10F	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	71					intracellular signal transduction (GO:0035556)		zinc ion binding (GO:0008270)	p.F71F(1)		central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		TGGCCCGTTTCCGGCAGGCCC	0.642																																						ENST00000563594.1																			1	Substitution - coding silent(1)	p.F71F(1)	lung(1)	central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.(28-30)ttC>ttT		differentially expressed in FDCP 8 homolog (mouse)							73	70	71					16																	90020690		2198	4300	6498	SO:0001819	synonymous_variant	54849				intracellular signal transduction		zinc ion binding	g.chr16:90020690C>T	AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995			25969	protein-coding gene	gene with protein product						12477932	Standard	NM_207514		Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	ENST00000268676.7:c.213C>T	16.37:g.90020690C>T						DEF8_ENST00000563795.1_Silent_p.F10F|DEF8_ENST00000570182.1_Silent_p.F10F|DEF8_ENST00000268676.7_Silent_p.F71F|DEF8_ENST00000418391.2_Silent_p.F10F|DEF8_ENST00000569453.1_Silent_p.F10F|DEF8_ENST00000567874.1_Intron	p.F10F	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0274)	3	1027	+		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)	71					B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Silent	SNP	ENST00000268676.7	37	c.30C>T	CCDS10989.1																																																																																				0.642	DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1	NM_207514		4	80	0	0	0	1	0	4	80					T	90020690	C	T	90020690	2	4	164	1	0	0	0	0	0	0	0	1	4387	854	30	2		2	DEF8	16	90020690	Silent	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	20819657	90020690	334063	63	3433	17	2									
DEF8	54849	broad.mit.edu	37	chr16	90020691	90020691	+	Missense_Mutation	SNP	C	C	T													atgagaagctggcccgtttcCggcaggcccacctcaacccc							TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr16:90020691C>T	ENST00000268676.7	+	3	303	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W	DEF8_ENST00000567874.1_Intron|DEF8_ENST00000563594.1_Missense_Mutation_p.R11W|DEF8_ENST00000418391.2_Missense_Mutation_p.R11W|DEF8_ENST00000569453.1_Missense_Mutation_p.R11W|DEF8_ENST00000563795.1_Missense_Mutation_p.R11W|DEF8_ENST00000570182.1_Missense_Mutation_p.R11W	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	72					intracellular signal transduction (GO:0035556)		zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		GGCCCGTTTCCGGCAGGCCCA	0.642																																						ENST00000563594.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.(31-33)Cgg>Tgg		differentially expressed in FDCP 8 homolog (mouse)							73	70	71					16																	90020691		2198	4300	6498	SO:0001583	missense	54849				intracellular signal transduction		zinc ion binding	g.chr16:90020691C>T	AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995			25969	protein-coding gene	gene with protein product						12477932	Standard	NM_207514		Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	ENST00000268676.7:c.214C>T	16.37:g.90020691C>T	ENSP00000268676:p.Arg72Trp					DEF8_ENST00000563795.1_Missense_Mutation_p.R11W|DEF8_ENST00000570182.1_Missense_Mutation_p.R11W|DEF8_ENST00000268676.7_Missense_Mutation_p.R72W|DEF8_ENST00000418391.2_Missense_Mutation_p.R11W|DEF8_ENST00000569453.1_Missense_Mutation_p.R11W|DEF8_ENST00000567874.1_Intron	p.R11W	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0274)	3	1028	+		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)	72					B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Missense_Mutation	SNP	ENST00000268676.7	37	c.31C>T	CCDS10989.1	.	.	.	.	.	.	.	.	.	.	C	31	5.074655	0.94000	.	.	ENSG00000140995	ENST00000268676;ENST00000418391	T;T	0.59638	0.4;0.25	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.75867	0.3908	M	0.71581	2.175	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.998;1.0	T	0.78674	-0.2112	10	0.87932	D	0	-9.8092	17.6689	0.88211	0.0:1.0:0.0:0.0	.	11;11;72;11	Q6ZN54-5;Q6ZN54-3;Q6ZN54;Q6ZN54-2	.;.;DEFI8_HUMAN;.	W	72;11	ENSP00000268676:R72W;ENSP00000412784:R11W	ENSP00000268676:R72W	R	+	1	2	DEF8	88548192	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.673000	0.74482	2.538000	0.85594	0.561000	0.74099	CGG		0.642	DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1	NM_207514		4	79	0	0	0	1	0	4	79					T	90020691	C	T	90020691	3	4	164	1	0	0	0	0	1	0	0	0	4387	643	23	1	220	1	DEF8	16	90020691	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	1	90020691	334062	64	3434	17	2									
TSR1	55720	broad.mit.edu	37	chr17	2233812	2233812	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acaagacagcaatttaccttCtgttcatgaggtagtaaaga	8	7	2	3			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr17:2233812C>T	ENST00000301364.5	-	10	2846	c.1767G>A	c.(1765-1767)caG>caA	p.Q589Q	SNORD91B_ENST00000391250.1_RNA|SNORD91A_ENST00000390861.1_RNA	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	589					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						AATTTACCTTCTGTTCATGAG	0.433																																						ENST00000301364.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						c.(1765-1767)caG>caA		TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)							66	64	65					17																	2233812		2203	4300	6503	SO:0001819	synonymous_variant	55720				ribosome assembly	nucleolus	protein binding	g.chr17:2233812C>T	AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"TSR1, 20S rRNA accumulation, homolog (yeast)"			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.1767G>A	17.37:g.2233812C>T							p.Q589Q	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN			10	2846	-			589					Q8WUY5|Q9NVT0|Q9P2E6	Silent	SNP	ENST00000301364.5	37	c.1767G>A	CCDS32525.1																																																																																				0.433	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438180.2	NM_018128		4	75	0	0	0	1	0	4	75					T	2233812	C	T	2233812	2	4	164	1	0	0	0	0	0	0	0	1	16661	912	32	2		2	TSR1	17	2233812	Silent	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08		2233812	78961398	65	3435											
CHD3	1107	broad.mit.edu	37	chr17	7798683	7798683	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtgctgaagggtcgagtgcaGaagatcctacattggcggtg	16	7	0	3			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr17:7798683G>C	ENST00000330494.7	+	10	1680	c.1530G>C	c.(1528-1530)caG>caC	p.Q510H	CHD3_ENST00000358181.4_Missense_Mutation_p.Q510H|CHD3_ENST00000380358.4_Missense_Mutation_p.Q569H	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	510	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				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)				GTCGAGTGCAGAAGATCCTAC	0.557																																						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.(1705-1707)caG>caC		chromodomain helicase DNA binding protein 3							91	86	88					17																	7798683		2203	4300	6503	SO:0001583	missense	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.chr17:7798683G>C	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.1530G>C	17.37:g.7798683G>C	ENSP00000332628:p.Gln510His					CHD3_ENST00000358181.4_Missense_Mutation_p.Q510H|CHD3_ENST00000330494.7_Missense_Mutation_p.Q510H	p.Q569H	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			10	1708	+		Prostate(122;0.202)	510			Chromo 1.		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.1707G>C	CCDS32554.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.76|14.76	2.631868|2.631868	0.46944|0.46944	.|.	.|.	ENSG00000170004|ENSG00000170004	ENST00000452447|ENST00000380358;ENST00000358181;ENST00000330494	.|T;T;T	.|0.42513	.|0.97;0.97;0.97	5.4|5.4	2.26|2.26	0.28386|0.28386	.|Zinc finger, RING/FYVE/PHD-type (1);Chromo domain-like (1);Chromo domain/shadow (1);	.|0.000000	.|0.43747	.|D	.|0.000533	T|T	0.62865|0.62865	0.2463|0.2463	M|M	0.82433|0.82433	2.59|2.59	0.50171|0.50171	D|D	0.999859|0.999859	.|D;D;D	.|0.71674	.|0.998;0.996;0.996	.|D;D;D	.|0.80764	.|0.994;0.986;0.986	T|T	0.65121|0.65121	-0.6245|-0.6245	5|10	.|0.49607	.|T	.|0.09	-30.0879|-30.0879	10.8936|10.8936	0.47010|0.47010	0.2671:0.0:0.7329:0.0|0.2671:0.0:0.7329:0.0	.|.	.|510;510;569	.|Q12873-2;Q12873;E9PG89	.|.;CHD3_HUMAN;.	Q|H	381|569;510;510	.|ENSP00000369716:Q569H;ENSP00000350907:Q510H;ENSP00000332628:Q510H	.|ENSP00000332628:Q510H	E|Q	+|+	1|3	0|2	CHD3|CHD3	7739408|7739408	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	0.787000|0.787000	0.26858|0.26858	0.839000|0.839000	0.34971|0.34971	0.561000|0.561000	0.74099|0.74099	GAA|CAG		0.557	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		8	138	0	0	0	1	0	8	138					C	7798683	G	C	7798683	3	2	164	1	0	0	0	0	1	0	0	0	3326	933	33	4	1849	4	CHD3	17	7798683	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	5564871	7798683	73396527	66	3436											
ALOX12B	242	broad.mit.edu	37	chr17	7979610	7979610	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggctgtcataggtgagctccGacagagcccgtaccatcacc	11	14	2	2			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr17:7979610G>A	ENST00000319144.4	-	11	1675	c.1415C>T	c.(1414-1416)tCg>tTg	p.S472L	ALOX12B_ENST00000577351.1_5'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	472	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GGTGAGCTCCGACAGAGCCCG	0.607										Multiple Myeloma(8;0.094)																												ENST00000319144.4																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						c.(1414-1416)tCg>tTg		arachidonate 12-lipoxygenase, 12R type							71	58	62					17																	7979610		2203	4300	6503	SO:0001583	missense	242				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7979610G>A	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"Arachidonate lipoxygenases"	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.1415C>T	17.37:g.7979610G>A	ENSP00000315167:p.Ser472Leu	Multiple Myeloma(8;0.094)				ALOX12B_ENST00000577351.1_5'UTR	p.S472L	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN			11	1675	-			472			Lipoxygenase.			Missense_Mutation	SNP	ENST00000319144.4	37	c.1415C>T	CCDS11129.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049482	0.36181	.	.	ENSG00000179477	ENST00000319144	D	0.90444	-2.67	5.2	4.22	0.49857	Lipoxygenase, C-terminal (3);	0.612154	0.16672	N	0.204328	D	0.86793	0.6018	L	0.38175	1.15	0.09310	N	1	P	0.42941	0.794	B	0.43445	0.42	T	0.77900	-0.2415	10	0.39692	T	0.17	-5.5943	11.0477	0.47867	0.0:0.0:0.6651:0.3349	.	472	O75342	LX12B_HUMAN	L	472	ENSP00000315167:S472L	ENSP00000315167:S472L	S	-	2	0	ALOX12B	7920335	0.001000	0.12720	0.341000	0.25589	0.157000	0.22087	0.880000	0.28159	1.171000	0.42768	0.313000	0.20887	TCG		0.607	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3			5	26	0	0	0	1	0	5	26					A	7979610	G	A	7979610	3	1	164	1	0	0	0	0	1	0	0	0	537	1059	37	1	710	1	ALOX12B	17	7979610	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	180927	7979610	73215600	67	3437											
MYH3	4621	broad.mit.edu	37	chr17	10533478	10533478	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acagactctgtgttcttcttCtgctctccctcaagttcaaa	5	13	7	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr17:10533478C>T	ENST00000583535.1	-	38	5580	c.5493G>A	c.(5491-5493)caG>caA	p.Q1831Q	MYH3_ENST00000226209.7_Silent_p.Q1831Q	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1831					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TGTTCTTCTTCTGCTCTCCCT	0.552																																						ENST00000583535.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(5491-5493)caG>caA		myosin, heavy chain 3, skeletal muscle, embryonic							262	259	260					17																	10533478		2203	4300	6503	SO:0001819	synonymous_variant	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10533478C>T		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.5493G>A	17.37:g.10533478C>T						MYH3_ENST00000226209.7_Silent_p.Q1831Q	p.Q1831Q	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			38	5580	-			1831					Q15492	Silent	SNP	ENST00000583535.1	37	c.5493G>A	CCDS11157.1																																																																																				0.552	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		19	226	0	0	0	1	0	19	226					T	10533478	C	T	10533478	2	4	164	1	0	0	0	0	0	0	0	1	10036	912	32	2		2	MYH3	17	10533478	Silent	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	2553868	10533478	70661732	68	3438											
FLII	2314	broad.mit.edu	37	chr17	18150552	18150552	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcagccttcatctggtctttCttctcggcgtcgcgtttcac	8	14	7	0			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr17:18150552C>G	ENST00000327031.4	-	21	2832	c.2607G>C	c.(2605-2607)aaG>aaC	p.K869N	FLII_ENST00000379450.4_Missense_Mutation_p.K783N|FLII_ENST00000578558.1_Intron|FLII_ENST00000545457.2_Missense_Mutation_p.K814N|FLII_ENST00000579294.1_Missense_Mutation_p.K858N	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	869					multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					TCTGGTCTTTCTTCTCGGCGT	0.667																																						ENST00000327031.4																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(2605-2607)aaG>aaC		flightless I homolog (Drosophila)							51	56	54					17																	18150552		2203	4300	6503	SO:0001583	missense	2314				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	g.chr17:18150552C>G	U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"flightless I (Drosophila) homolog"			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.2607G>C	17.37:g.18150552C>G	ENSP00000324573:p.Lys869Asn					FLII_ENST00000379450.4_Missense_Mutation_p.K783N|FLII_ENST00000579294.1_Missense_Mutation_p.K858N|FLII_ENST00000578558.1_Intron|FLII_ENST00000545457.2_Missense_Mutation_p.K814N	p.K869N	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN			21	2832	-	all_neural(463;0.228)		869					B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	ENST00000327031.4	37	c.2607G>C	CCDS11192.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124306	0.56613	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T	0.38240	1.15;1.23	5.41	2.31	0.28768	.	0.215747	0.48767	N	0.000180	T	0.26340	0.0643	L	0.51422	1.61	0.47037	D	0.999295	B;B;B;B;P	0.39665	0.09;0.09;0.001;0.207;0.682	B;B;B;B;B	0.32980	0.015;0.015;0.002;0.023;0.156	T	0.02736	-1.1117	10	0.32370	T	0.25	-33.6021	8.7649	0.34698	0.0:0.7469:0.1264:0.1267	.	783;783;748;869;838	E7EPM0;B4DIL0;F5H407;Q13045;B4DIX0	.;.;.;FLII_HUMAN;.	N	869;748;783	ENSP00000324573:K869N;ENSP00000368763:K783N	ENSP00000324573:K869N	K	-	3	2	FLII	18091277	1.000000	0.71417	0.999000	0.59377	0.896000	0.52359	5.453000	0.66645	0.256000	0.21614	-0.300000	0.09419	AAG		0.667	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		7	55	0	0	0	1	0	7	55					G	18150552	C	G	18150552	3	3	164	1	0	0	0	0	1	0	0	0	5925	912	32	4	1242	4	FLII	17	18150552	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	7617074	18150552	63044658	69	3439											
ITGA2B	3674	broad.mit.edu	37	chr17	42458006	42458006	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttggccccgtaagctcccacGatcaggtctatagacatcga	9	13	2	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr17:42458006G>A	ENST00000262407.5	-	14	1432	c.1401C>T	c.(1399-1401)atC>atT	p.I467I	ITGA2B_ENST00000377068.3_3'UTR|ITGA2B_ENST00000353281.4_Silent_p.I467I	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	467					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.I467I(1)		biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	AAGCTCCCACGATCAGGTCTA	0.602																																						ENST00000262407.5																			1	Substitution - coding silent(1)	p.I467I(1)	large_intestine(1)	biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1399-1401)atC>atT		integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	Tirofiban(DB00775)						118	111	114					17																	42458006		2203	4300	6503	SO:0001819	synonymous_variant	3674				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	g.chr17:42458006G>A		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"CD molecules", "Integrins"	6138	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 93"	607759	"integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.1401C>T	17.37:g.42458006G>A						ITGA2B_ENST00000377068.3_3'UTR|ITGA2B_ENST00000353281.4_Silent_p.I467I	p.I467I	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.191)	14	1432	-		Prostate(33;0.0181)	467					B2RCY8|O95366|Q14443|Q17R67	Silent	SNP	ENST00000262407.5	37	c.1401C>T	CCDS32665.1																																																																																				0.602	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			12	77	0	0	0	1	0	12	77					A	42458006	G	A	42458006	2	1	164	1	0	0	0	0	0	0	0	1	7876	1048	37	1		1	ITGA2B	17	42458006	Silent	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	24307454	42458006	38737204	70	3440											
CBX1	10951	broad.mit.edu	37	chr17	46148811	46148811	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggagcgttagttcttgtcatCttttttgtcatcatcctccg	8	10	5	0			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr17:46148811C>G	ENST00000393408.3	-	5	1024	c.544G>C	c.(544-546)Gat>Cat	p.D182H	CBX1_ENST00000225603.4_Missense_Mutation_p.D182H	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN	chromobox homolog 1	182					negative regulation of transcription, DNA-templated (GO:0045892)	chromatin (GO:0000785)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|pericentric heterochromatin (GO:0005721)|spindle (GO:0005819)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						TTCTTGTCATCTTTTTTGTCA	0.493																																					NSCLC(136;694 2497 38792 39034)	ENST00000393408.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						c.(544-546)Gat>Cat		chromobox homolog 1							118	102	107					17																	46148811		2203	4300	6503	SO:0001583	missense	10951					nuclear heterochromatin|nucleoplasm|spindle	chromatin binding|enzyme binding	g.chr17:46148811C>G	U35451	CCDS11525.1	17q21.32	2010-07-06	2010-06-24		ENSG00000108468	ENSG00000108468			1551	protein-coding gene	gene with protein product	"HP1 beta homolog (Drosophila )"	604511	"chromobox homolog 1 (Drosophila HP1 beta)"			9169582	Standard	NM_001127228		Approved	HP1Hs-beta, M31, MOD1, CBX, HP1-BETA	uc002ind.4	P83916	OTTHUMG00000150417	ENST00000393408.3:c.544G>C	17.37:g.46148811C>G	ENSP00000377060:p.Asp182His					CBX1_ENST00000225603.4_Missense_Mutation_p.D182H	p.D182H	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN			5	1024	-			182					P23197	Missense_Mutation	SNP	ENST00000393408.3	37	c.544G>C	CCDS11525.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124767	0.77436	.	.	ENSG00000108468	ENST00000225603;ENST00000393408	.	.	.	5.17	5.17	0.71159	.	0.323450	0.27048	U	0.021185	T	0.62768	0.2455	L	0.53249	1.67	0.80722	D	1	P	0.42757	0.789	P	0.46510	0.519	T	0.66180	-0.5988	9	0.62326	D	0.03	-5.6068	17.8648	0.88793	0.0:1.0:0.0:0.0	.	182	P83916	CBX1_HUMAN	H	182	.	ENSP00000225603:D182H	D	-	1	0	CBX1	43503810	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.862000	0.69560	2.601000	0.87937	0.556000	0.70494	GAT		0.493	CBX1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318016.1	NM_006807		3	43	0	0	0	1	0	3	43					G	46148811	C	G	46148811	3	3	164	1	0	0	0	0	1	0	0	0	2717	913	32	4	17	4	CBX1	17	46148811	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	3690805	46148811	35046399	71	3441											
C17orf28	283987	broad.mit.edu	37	chr17	72959073	72959073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactcaccacagtgctcctcCggtggctctgaaccgtgaag	10	15	2	2			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr17:72959073C>T	ENST00000425042.2	-	4	568	c.491G>A	c.(490-492)cGg>cAg	p.R164Q	HID1_ENST00000532900.1_5'UTR	NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	164					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)											AGTGCTCCTCCGGTGGCTCTG	0.662																																						ENST00000425042.2																			0											c.(490-492)cGg>cAg		HID1 domain containing							46	51	49					17																	72959073		2203	4300	6503	SO:0001583	missense	283987							g.chr17:72959073C>T		CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"downregulated in multiple cancer 1"	605752	"chromosome 17 open reading frame 28"	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.491G>A	17.37:g.72959073C>T	ENSP00000413520:p.Arg164Gln					HID1_ENST00000532900.1_5'UTR	p.R164Q	NM_030630.2	NP_085133.1					4	568	-								Q8N5L6|Q8TE83|Q9NT34	Missense_Mutation	SNP	ENST00000425042.2	37	c.491G>A	CCDS32726.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.41|18.41	3.618083|3.618083	0.66787|0.66787	.|.	.|.	ENSG00000167861|ENSG00000167861	ENST00000534480|ENST00000425042;ENST00000530857	.|.	.|.	.|.	4.65|4.65	3.68|3.68	0.42216|0.42216	.|.	.|0.057405	.|0.64402	.|D	.|0.000003	T|T	0.52289|0.52289	0.1725|0.1725	M|M	0.62723|0.62723	1.935|1.935	0.51767|0.51767	D|D	0.999931|0.999931	.|P;B	.|0.45768	.|0.866;0.023	.|B;B	.|0.39904	.|0.313;0.029	T|T	0.51702|0.51702	-0.8672|-0.8672	6|9	0.87932|0.31617	D|T	0|0.26	-20.5564|-20.5564	12.5368|12.5368	0.56145|0.56145	0.0:0.9181:0.0:0.0819|0.0:0.9181:0.0:0.0819	.|.	.|163;164	.|Q8IV36-2;Q8IV36	.|.;CQ028_HUMAN	R|Q	154|164;56	.|.	ENSP00000435751:G154R|ENSP00000413520:R164Q	G|R	-|-	1|2	0|0	C17orf28|C17orf28	70470668|70470668	1.000000|1.000000	0.71417|0.71417	0.965000|0.965000	0.40720|0.40720	0.982000|0.982000	0.71751|0.71751	4.363000|4.363000	0.59473|0.59473	0.942000|0.942000	0.37525|0.37525	0.561000|0.561000	0.74099|0.74099	GGA|CGG		0.662	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390011.2	NM_030630		8	72	0	0	0	1	0	8	72					T	72959073	C	T	72959073	3	4	164	1	0	0	0	0	1	0	0	0	1853	652	23	1	1939	1	C17orf28	17	72959073	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	26810262	72959073	8236137	72	3442											
KIAA1468	57614	broad.mit.edu	37	chr18	59947626	59947626	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcatgagtgaagcgttagttGacaagcgggttgctccggcc	15	9	0	3			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr18:59947626G>A	ENST00000398130.2	+	23	3233	c.3001G>A	c.(3001-3003)Gac>Aac	p.D1001N	KIAA1468_ENST00000256858.6_Intron	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	1001										autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				AGCGTTAGTTGACAAGCGGGT	0.448																																						ENST00000398130.2																			0				autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(3001-3003)Gac>Aac		KIAA1468							129	117	121					18																	59947626		2203	4300	6503	SO:0001583	missense	57614						binding	g.chr18:59947626G>A	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.3001G>A	18.37:g.59947626G>A	ENSP00000381198:p.Asp1001Asn					KIAA1468_ENST00000256858.6_Intron	p.D1001N	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN			23	3233	+		Colorectal(73;0.186)	1001						Missense_Mutation	SNP	ENST00000398130.2	37	c.3001G>A	CCDS11979.2	.	.	.	.	.	.	.	.	.	.	G	9.528	1.109970	0.20714	.	.	ENSG00000134444	ENST00000398130	T	0.67865	-0.29	5.67	5.67	0.87782	Armadillo-like helical (1);Armadillo-type fold (1);	0.091023	0.85682	D	0.000000	T	0.44095	0.1277	N	0.01576	-0.805	0.31783	N	0.630635	B	0.21071	0.051	B	0.29524	0.103	T	0.34875	-0.9811	9	.	.	.	.	20.1169	0.97940	0.0:0.0:1.0:0.0	.	1001	Q9P260	K1468_HUMAN	N	1001	ENSP00000381198:D1001N	.	D	+	1	0	KIAA1468	58098606	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.777000	0.99008	2.835000	0.97688	0.591000	0.81541	GAC		0.448	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		9	127	0	0	0	1	0	9	127					A	59947626	G	A	59947626	3	1	164	1	0	0	0	0	1	0	0	0	8236	1290	45	2	3091	2	KIAA1468	18	59947626	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08		59947626	18129622	73	3443											
FZR1	51343	broad.mit.edu	37	chr19	3523039	3523039	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccagatcgtcatccagaatGagaacacgatgccacgcgtg	11	12	1	3			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr19:3523039G>A	ENST00000395095.3	+	1	52	c.52G>A	c.(52-54)Gag>Aag	p.E18K	SNORD38_ENST00000516599.1_RNA|FZR1_ENST00000441788.2_Missense_Mutation_p.E18K|FZR1_ENST00000313639.8_Missense_Mutation_p.E18K	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	18					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCCAGAATGAGAACACGAT	0.687																																						ENST00000441788.2																			0				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(52-54)Gag>Aag		fizzy/cell division cycle 20 related 1 (Drosophila)							74	74	74					19																	3523039		2203	4299	6502	SO:0001583	missense	51343				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding	g.chr19:3523039G>A	AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"WD repeat domain containing"	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.52G>A	19.37:g.3523039G>A	ENSP00000378529:p.Glu18Lys					FZR1_ENST00000395095.3_Missense_Mutation_p.E18K|FZR1_ENST00000313639.8_Missense_Mutation_p.E18K	p.E18K	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	2	288	+			18					O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Missense_Mutation	SNP	ENST00000395095.3	37	c.52G>A	CCDS45916.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.031126	0.54790	.	.	ENSG00000105325	ENST00000441788;ENST00000395095;ENST00000313639	T;T;T	0.07688	3.17;3.17;3.17	4.17	4.17	0.49024	.	0.065676	0.64402	D	0.000012	T	0.06280	0.0162	N	0.24115	0.695	0.31534	N	0.660834	B;B;B	0.24092	0.014;0.097;0.05	B;B;B	0.20767	0.008;0.031;0.019	T	0.10543	-1.0625	10	0.22109	T	0.4	-37.9369	13.3324	0.60495	0.0:0.0:1.0:0.0	.	18;18;18	Q9UM11;Q9UM11-3;Q9UM11-2	FZR_HUMAN;.;.	K	18	ENSP00000410369:E18K;ENSP00000378529:E18K;ENSP00000321800:E18K	ENSP00000321800:E18K	E	+	1	0	FZR1	3474039	1.000000	0.71417	0.998000	0.56505	0.781000	0.44180	8.273000	0.89887	2.169000	0.68431	0.555000	0.69702	GAG		0.687	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2	NM_016263		16	120	0	0	0	1	0	16	120					A	3523039	G	A	3523039	3	1	164	1	0	0	0	0	1	0	0	0	6138	1291	45	2	54	2	FZR1	19	3523039	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08		3523039	55605944	74	3444											
GIPC3	126326	broad.mit.edu	37	chr19	3586871	3586871	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgtgcgtgggtgacagcatCgaagccatcaacgaccactc	12	12	1	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr19:3586871C>T	ENST00000322315.5	+	3	516	c.471C>T	c.(469-471)atC>atT	p.I157I		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	157	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.									breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGACAGCATCGAAGCCATCA	0.627											OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000322315.5																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10						c.(469-471)atC>atT		GIPC PDZ domain containing family, member 3							51	48	49					19																	3586871		2202	4300	6502	SO:0001819	synonymous_variant	126326							g.chr19:3586871C>T	AB073738	CCDS32871.1	19p13.3	2011-11-29				ENSG00000179855			18183	protein-coding gene	gene with protein product		608792	"chromosome 19 open reading frame 64", "deafness, autosomal recessive 72", "deafness, autosomal recessive 15"	C19orf64, DFNB72, DFNB15		11836571, 21326233	Standard	NM_133261		Approved	DFNB95	uc002lyd.4	Q8TF64		ENST00000322315.5:c.471C>T	19.37:g.3586871C>T			OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	612		p.I157I	NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)	3	516	+			157			PDZ.		O75227	Silent	SNP	ENST00000322315.5	37	c.471C>T	CCDS32871.1																																																																																				0.627	GIPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394577.1	NM_133261		4	42	0	0	0	1	0	4	42					T	3586871	C	T	3586871	2	4	164	1	0	0	0	0	0	0	0	1	6394	874	31	1		1	GIPC3	19	3586871	Silent	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	63832	3586871	55542112	75	3445											
HDGFRP2	729359	broad.mit.edu	37	chr19	4501226	4501226	+	IGR	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctcagccccagtgaatggcGaggccacatcacagaagggg	13	12	2	2			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr19:4501226G>A	ENST00000301286.3	-	0	6341				HDGFRP2_ENST00000301284.4_Missense_Mutation_p.E610K|HDGFRP2_ENST00000586684.1_Missense_Mutation_p.E610K	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4							cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						AGTGAATGGCGAGGCCACATC	0.637																																						ENST00000301284.4																			0											c.(1828-1830)Gag>Aag									50	62	58					19																	4501226		2046	4190	6236	SO:0001628	intergenic_variant	0				transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:4501226G>A	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571		19.37:g.4501226G>A						HDGFRP2_ENST00000586684.1_Missense_Mutation_p.E610K	p.E610K	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN			15	1892	+			605					A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	c.1828G>A	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.781861	0.31502	.	.	ENSG00000167674	ENST00000301284	T	0.49432	0.78	3.96	3.96	0.45880	.	0.070762	0.53938	D	0.000042	T	0.37237	0.0996	L	0.29908	0.895	0.37826	D	0.928557	D;P	0.60160	0.987;0.824	B;B	0.43867	0.434;0.081	T	0.38351	-0.9665	10	0.34782	T	0.22	.	13.5325	0.61629	0.0:0.0:1.0:0.0	.	605;610	Q7Z4V5-2;C9JEE1	.;.	K	610	ENSP00000301284:E610K	ENSP00000301284:E610K	E	+	1	0	AC011498.1	4452226	0.995000	0.38212	0.965000	0.40720	0.037000	0.13140	2.589000	0.46145	2.035000	0.60131	0.462000	0.41574	GAG		0.637	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		9	80	0	0	0	1	0	9	80					A	4501226	G	A	4501226	1	1	164	0	1	0	0	0	0	0	0	0	7020	1059	37	1		1	HDGFRP2	19	4501226	IGR	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	914355	4501226	54627757	76	3446											
ZNF177	7730	broad.mit.edu	37	chr19	9489680	9489680	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tggcagtggacttttcccagGaggagtgggcattgctggac	16	8	0	0			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr19:9489680G>C	ENST00000589262.1	+	3	142	c.76G>C	c.(76-78)Gag>Cag	p.E26Q	ZNF177_ENST00000605471.1_3'UTR|ZNF177_ENST00000602738.1_Missense_Mutation_p.E26Q|ZNF177_ENST00000590616.1_Missense_Mutation_p.E26Q|ZNF177_ENST00000602856.1_Missense_Mutation_p.E26Q|ZNF177_ENST00000434737.2_Missense_Mutation_p.E26Q|ZNF177_ENST00000541595.2_Missense_Mutation_p.E26Q|ZNF177_ENST00000343499.4_Missense_Mutation_p.E26Q|ZNF177_ENST00000446085.4_Missense_Mutation_p.E26Q	NM_001172651.1	NP_001166122.1	Q13360	ZN177_HUMAN	zinc finger protein 177	26	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						CTTTTCCCAGGAGGAGTGGGC	0.458																																						ENST00000446085.4																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						c.(76-78)Gag>Cag		zinc finger protein 177							118	108	111					19																	9489680		2203	4300	6503	SO:0001583	missense	7730				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9489680G>C	U37263, BC012012	CCDS12212.1, CCDS54214.1	19p13.2	2013-01-08						"Zinc fingers, C2H2-type", "-"	12966	protein-coding gene	gene with protein product		601276					Standard	NM_003451		Approved		uc021uon.1	Q13360		ENST00000589262.1:c.76G>C	19.37:g.9489680G>C	ENSP00000468531:p.Glu26Gln					ZNF177_ENST00000589262.1_Missense_Mutation_p.E26Q|ZNF177_ENST00000541595.2_Missense_Mutation_p.E26Q|ZNF177_ENST00000343499.4_Missense_Mutation_p.E26Q|ZNF177_ENST00000602738.1_Missense_Mutation_p.E26Q|ZNF177_ENST00000602856.1_Missense_Mutation_p.E26Q|ZNF177_ENST00000590616.1_Missense_Mutation_p.E26Q|ZNF177_ENST00000605471.1_3'UTR|ZNF177_ENST00000434737.2_Missense_Mutation_p.E26Q	p.E26Q			Q13360	ZN177_HUMAN			7	608	+			26			KRAB.		B4DY57|E9PDG0|I3L0I4|Q96ER2	Missense_Mutation	SNP	ENST00000589262.1	37	c.76G>C	CCDS54214.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102757	0.56183	.	.	ENSG00000188629	ENST00000541595;ENST00000446085;ENST00000343499;ENST00000434737	T;T;T;T	0.03524	3.9;3.9;3.9;3.9	2.56	2.56	0.30785	Krueppel-associated box (4);	.	.	.	.	T	0.21921	0.0528	M	0.93197	3.39	0.24460	N	0.994443	D	0.76494	0.999	D	0.83275	0.996	T	0.36138	-0.9760	8	0.87932	D	0	.	8.7823	0.34798	0.0:0.0:1.0:0.0	.	26	Q13360	ZN177_HUMAN	Q	26	ENSP00000445323:E26Q;ENSP00000413568:E26Q;ENSP00000341497:E26Q;ENSP00000415070:E26Q	ENSP00000341497:E26Q	E	+	1	0	ZNF177	9350680	0.980000	0.34600	0.987000	0.45799	0.997000	0.91878	0.999000	0.29757	1.737000	0.51674	0.467000	0.42956	GAG		0.458	ZNF177-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449028.1	NM_003451		5	53	0	0	0	1	0	5	53					C	9489680	G	C	9489680	3	2	164	1	0	0	0	0	1	0	0	0	17743	1175	41	4	82	4	ZNF177	19	9489680	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	4988454	9489680	49639303	77	3447											
ARRDC2	27106	broad.mit.edu	37	chr19	18119799	18119799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaccctggtgacatccttcGagggcaaacacggtagtgtc	13	11	0	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr19:18119799G>A	ENST00000222250.4	+	3	504	c.361G>A	c.(361-363)Gag>Aag	p.E121K	ARRDC2_ENST00000608009.1_3'UTR|ARRDC2_ENST00000379656.3_Missense_Mutation_p.E116K	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	121					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						GACATCCTTCGAGGGCAAACA	0.617																																						ENST00000222250.4																			0				endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						c.(361-363)Gag>Aag		arrestin domain containing 2							74	68	70					19																	18119799		2203	4300	6503	SO:0001583	missense	27106							g.chr19:18119799G>A		CCDS12370.1, CCDS32956.1	19p13.12	2008-02-05				ENSG00000105643			25225	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015683		Approved	CLONE24945, PP2703	uc002nhv.3	Q8TBH0		ENST00000222250.4:c.361G>A	19.37:g.18119799G>A	ENSP00000222250:p.Glu121Lys					ARRDC2_ENST00000595712.1_3'UTR|ARRDC2_ENST00000379656.2_Missense_Mutation_p.E116K	p.E121K	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN			3	504	+			121					B2RBG9|O95895|Q6ZRV9|Q8WYG6	Missense_Mutation	SNP	ENST00000222250.4	37	c.361G>A	CCDS12370.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758084	0.69648	.	.	ENSG00000105643	ENST00000379656;ENST00000222250	T;T	0.17854	2.94;2.25	4.44	4.44	0.53790	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.42966	0.1226	M	0.80508	2.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.35201	-0.9798	10	0.23302	T	0.38	-14.7463	16.45	0.83977	0.0:0.0:1.0:0.0	.	121;116	Q8TBH0;Q8TBH0-2	ARRD2_HUMAN;.	K	116;121	ENSP00000368977:E116K;ENSP00000222250:E121K	ENSP00000222250:E121K	E	+	1	0	ARRDC2	17980799	1.000000	0.71417	0.663000	0.29738	0.758000	0.43043	9.620000	0.98373	2.200000	0.70718	0.491000	0.48974	GAG		0.617	ARRDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466845.1	NM_015683		6	134	0	0	0	1	0	6	134					A	18119799	G	A	18119799	3	1	164	1	0	0	0	0	1	0	0	0	983	1059	37	1	634	1	ARRDC2	19	18119799	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	8630119	18119799	41009184	78	3448											
PPP1R13L	10848	broad.mit.edu	37	chr19	45889407	45889407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcggcgggccttgcgcgggGagcccgccttccgcagcaca	16	17	0	0			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr19:45889407G>A	ENST00000418234.2	-	9	1925	c.1847C>T	c.(1846-1848)tCc>tTc	p.S616F	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.S616F	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	616					apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CTTGCGCGGGGAGCCCGCCTT	0.662																																					Pancreas(61;1447 1663 31419 50578)	ENST00000418234.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1846-1848)tCc>tTc		protein phosphatase 1, regulatory subunit 13 like							6	8	7					19																	45889407		2168	4237	6405	SO:0001583	missense	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45889407G>A	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"Ankyrin repeat domain containing"	18838	protein-coding gene	gene with protein product		607463	"protein phosphatase 1, regulatory (inhibitor) subunit 13 like"			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.1847C>T	19.37:g.45889407G>A	ENSP00000403902:p.Ser616Phe					PPP1R13L_ENST00000360957.5_Missense_Mutation_p.S616F	p.S616F	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	9	1925	-		all_neural(266;0.224)|Ovarian(192;0.231)	616					Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP	ENST00000418234.2	37	c.1847C>T	CCDS33050.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.061207	0.55432	.	.	ENSG00000104881	ENST00000418234;ENST00000360957;ENST00000221478	T;T	0.59224	0.28;0.28	4.99	4.99	0.66335	Src homology-3 domain (1);	0.512077	0.21425	N	0.074743	T	0.64204	0.2577	N	0.24115	0.695	0.38749	D	0.954079	D;D	0.76494	0.999;0.998	D;P	0.73708	0.981;0.896	T	0.70197	-0.4938	10	0.87932	D	0	.	15.8232	0.78676	0.0:0.0:1.0:0.0	.	616;195	Q8WUF5;A7YME7	IASPP_HUMAN;.	F	616;616;190	ENSP00000403902:S616F;ENSP00000354218:S616F	ENSP00000221478:S190F	S	-	2	0	PPP1R13L	50581247	1.000000	0.71417	0.999000	0.59377	0.803000	0.45373	6.367000	0.73099	2.601000	0.87937	0.561000	0.74099	TCC		0.662	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		4	10	0	0	0	1	0	4	10					A	45889407	G	A	45889407	3	1	164	1	0	0	0	0	1	0	0	0	12358	1174	41	2	659	2	PPP1R13L	19	45889407	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	27769608	45889407	13239576	79	3449											
PRKD2	25865	broad.mit.edu	37	chr19	47177807	47177807	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acactgatgcgctccgccagCccctgcatgtcgtggtcctg	11	16	0	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr19:47177807C>T	ENST00000291281.4	-	18	2835	c.2610G>A	c.(2608-2610)ggG>ggA	p.G870G	PRKD2_ENST00000600194.1_Silent_p.G713G|PRKD2_ENST00000601806.1_Silent_p.G713G|PRKD2_ENST00000433867.1_Silent_p.G870G|DACT3-AS1_ENST00000525352.1_RNA|DACT3-AS1_ENST00000525008.1_RNA|PRKD2_ENST00000595515.1_Silent_p.G880G			Q9BZL6	KPCD2_HUMAN	protein kinase D2	870			G -> E (in a gastric adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GCTCCGCCAGCCCCTGCATGT	0.632																																						ENST00000433867.1																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41						c.(2608-2610)ggG>ggA		protein kinase D2							44	33	37					19																	47177807		2203	4300	6503	SO:0001819	synonymous_variant	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47177807C>T	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"Pleckstrin homology (PH) domain containing"	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.2610G>A	19.37:g.47177807C>T						PRKD2_ENST00000291281.4_Silent_p.G870G|PRKD2_ENST00000601806.1_Silent_p.G713G|PRKD2_ENST00000600194.1_Silent_p.G713G|DACT3-AS1_ENST00000525008.1_RNA|PRKD2_ENST00000595515.1_Silent_p.G880G	p.G870G	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	19	3087	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	870		G -> E (in a gastric adenocarcinoma sample; somatic mutation).			Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	ENST00000291281.4	37	c.2610G>A	CCDS12689.1																																																																																				0.632	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		5	36	0	0	0	1	0	5	36					T	47177807	C	T	47177807	2	4	164	1	0	0	0	0	0	0	0	1	12519	726	26	2		2	PRKD2	19	47177807	Silent	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	1288400	47177807	11951176	80	3450											
SHANK1	50944	broad.mit.edu	37	chr19	51172499	51172499	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gacaggctgcggctgaatttCatggctgggggtgctaggta	17	7	1	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr19:51172499C>T	ENST00000293441.1	-	22	2736	c.2718G>A	c.(2716-2718)atG>atA	p.M906I	SYT3_ENST00000544769.1_5'Flank|SHANK1_ENST00000359082.3_Missense_Mutation_p.M897I|SHANK1_ENST00000391814.1_Missense_Mutation_p.M914I|SHANK1_ENST00000391813.1_Missense_Mutation_p.M293I	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	906					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)		GGCTGAATTTCATGGCTGGGG	0.647											OREG0025642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.(2716-2718)atG>atA		SH3 and multiple ankyrin repeat domains 1							23	21	22					19																	51172499		2201	4299	6500	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51172499C>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.2718G>A	19.37:g.51172499C>T	ENSP00000293441:p.Met906Ile		OREG0025642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	975	SHANK1_ENST00000359082.3_Missense_Mutation_p.M897I|SHANK1_ENST00000391814.1_Missense_Mutation_p.M914I|SHANK1_ENST00000391813.1_Missense_Mutation_p.M293I	p.M906I	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	22	2736	-		all_neural(266;0.057)	906					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.2718G>A	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962070	0.34659	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.37411	1.31;1.76;1.3;1.2	3.77	2.71	0.32032	.	0.514149	0.15753	U	0.246306	T	0.31009	0.0783	L	0.46157	1.445	0.26874	N	0.96769	B;B	0.23990	0.006;0.095	B;B	0.30105	0.006;0.111	T	0.15723	-1.0427	10	0.27785	T	0.31	.	9.8462	0.41028	0.0:0.8927:0.0:0.1073	.	906;293	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	I	906;293;897;914	ENSP00000293441:M906I;ENSP00000375689:M293I;ENSP00000351984:M897I;ENSP00000375690:M914I	ENSP00000293441:M906I	M	-	3	0	SHANK1	55864311	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.914000	0.48797	1.826000	0.53198	0.549000	0.68633	ATG		0.647	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		3	41	0	0	0	1	0	3	41					T	51172499	C	T	51172499	3	4	164	1	0	0	0	0	1	0	0	0	14264	826	29	2	3775	2	SHANK1	19	51172499	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	3994692	51172499	7956484	81	3451											
SLC12A5	57468	broad.mit.edu	37	chr20	44670044	44670044	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agctggcttgggaaggaaatGagacggtgaccacacggcta	15	8	0	2			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr20:44670044G>C	ENST00000454036.2	+	8	1049	c.1000G>C	c.(1000-1002)Gag>Cag	p.E334Q	SLC12A5_ENST00000243964.3_Missense_Mutation_p.E311Q	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	334					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGAAGGAAATGAGACGGTGAC	0.542																																						ENST00000454036.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(1000-1002)Gag>Cag		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						119	103	108					20																	44670044		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44670044G>C	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1000G>C	20.37:g.44670044G>C	ENSP00000387694:p.Glu334Gln					SLC12A5_ENST00000243964.3_Missense_Mutation_p.E311Q|SLC12A5_ENST00000539566.1_Intron	p.E334Q	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			8	1076	+		Myeloproliferative disorder(115;0.0122)	334					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.1000G>C	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326577	0.60743	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.84589	-1.87;-1.87	4.75	4.75	0.60458	.	0.275950	0.35040	N	0.003484	T	0.76681	0.4021	N	0.25485	0.75	0.80722	D	1	B;P	0.36753	0.064;0.568	B;B	0.35114	0.041;0.196	T	0.74797	-0.3543	10	0.20519	T	0.43	.	16.9431	0.86223	0.0:0.0:1.0:0.0	.	334;311	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	Q	334;311	ENSP00000387694:E334Q;ENSP00000243964:E311Q	ENSP00000243964:E311Q	E	+	1	0	SLC12A5	44103451	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.478000	0.73596	2.457000	0.83068	0.655000	0.94253	GAG		0.542	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			6	74	0	0	0	1	0	6	74					C	44670044	G	C	44670044	3	2	164	1	0	0	0	0	1	0	0	0	14386	1291	45	4	1086	4	SLC12A5	20	44670044	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08		44670044	18355476	82	3452											
TRPM2	7226	broad.mit.edu	37	chr21	45799002	45799002	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gacatcactatctccctgatCcagcagaaactgagcgtgtt	8	12	2	3			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr21:45799002C>G	ENST00000397928.1	+	8	1582	c.1137C>G	c.(1135-1137)atC>atG	p.I379M	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.I379M|TRPM2_ENST00000300481.9_Missense_Mutation_p.I379M|TRPM2_ENST00000397932.2_Missense_Mutation_p.I379M	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	379					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TCTCCCTGATCCAGCAGAAAC	0.597																																						ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(1135-1137)atC>atG		transient receptor potential cation channel, subfamily M, member 2							120	89	99					21																	45799002		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45799002C>G	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.1137C>G	21.37:g.45799002C>G	ENSP00000381023:p.Ile379Met					TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.I379M|TRPM2_ENST00000300482.5_Missense_Mutation_p.I379M|TRPM2_ENST00000397932.2_Missense_Mutation_p.I379M	p.I379M	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			8	1582	+			379					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.1137C>G	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.731651	0.30684	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	3.84	-0.37	0.12530	.	0.058458	0.64402	D	0.000002	T	0.48390	0.1497	L	0.60957	1.885	0.47511	D	0.999449	D;D	0.76494	0.999;0.997	D;P	0.69654	0.965;0.795	T	0.38520	-0.9657	10	0.62326	D	0.03	-21.3636	9.1709	0.37081	0.0:0.519:0.0:0.481	.	379;379	E9PGK7;O94759	.;TRPM2_HUMAN	M	379	ENSP00000300482:I379M;ENSP00000381023:I379M;ENSP00000300481:I379M;ENSP00000381026:I379M	ENSP00000300481:I379M	I	+	3	3	TRPM2	44623430	0.989000	0.36119	0.994000	0.49952	0.308000	0.27856	0.300000	0.19156	-0.323000	0.08602	-0.251000	0.11542	ATC		0.597	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		4	79	0	0	0	1	0	4	79					G	45799002	C	G	45799002	3	3	164	1	0	0	0	0	1	0	0	0	16583	845	30	4	1167	4	TRPM2	21	45799002	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08		45799002	2330893	83	3453											
EIF3D	8664	broad.mit.edu	37	chr22	36920659	36920659	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctacctgggcaaatctcattCgattccgctggtaggccgtc	10	13	1	0			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr22:36920659C>T	ENST00000216190.8	-	4	660	c.290G>A	c.(289-291)cGa>cAa	p.R97Q	EIF3D_ENST00000405442.1_Missense_Mutation_p.R97Q|EIF3D_ENST00000541106.1_Intron	NM_003753.3	NP_003744.1			eukaryotic translation initiation factor 3, subunit D											cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						AAATCTCATTCGATTCCGCTG	0.512																																						ENST00000216190.8																			0				cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						c.(289-291)cGa>cAa		eukaryotic translation initiation factor 3, subunit D							145	120	129					22																	36920659		2203	4300	6503	SO:0001583	missense	8664					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:36920659C>T	U54558	CCDS13930.1	22q13.1	2007-07-27	2007-07-27	2007-07-27	ENSG00000100353	ENSG00000100353			3278	protein-coding gene	gene with protein product		603915	"eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa"	EIF3S7		9341143	Standard	NM_003753		Approved	eIF3-p66, eIF3-zeta, eIF3d	uc003apr.3	O15371	OTTHUMG00000150599	ENST00000216190.8:c.290G>A	22.37:g.36920659C>T	ENSP00000216190:p.Arg97Gln					EIF3D_ENST00000541106.1_Intron|EIF3D_ENST00000405442.1_Missense_Mutation_p.R97Q	p.R97Q	NM_003753.3	NP_003744.1	O15371	EIF3D_HUMAN			4	660	-			97						Missense_Mutation	SNP	ENST00000216190.8	37	c.290G>A	CCDS13930.1	.	.	.	.	.	.	.	.	.	.	C	37	6.067219	0.97251	.	.	ENSG00000100353	ENST00000216190;ENST00000397177;ENST00000405442;ENST00000455547;ENST00000457241;ENST00000432675;ENST00000402116	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.85720	0.5762	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83831	0.0252	9	0.32370	T	0.25	0.0231	20.5568	0.99304	0.0:1.0:0.0:0.0	.	97	O15371	EIF3D_HUMAN	Q	97	.	ENSP00000216190:R97Q	R	-	2	0	EIF3D	35250605	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	7.541000	0.82084	2.861000	0.98227	0.655000	0.94253	CGA		0.512	EIF3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319026.1			14	114	0	0	0	1	0	14	114					T	36920659	C	T	36920659	3	4	164	1	0	0	0	0	1	0	0	0	5014	884	31	1	1404	1	EIF3D	22	36920659	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08		36920659	14383907	84	3454											
FAM47C	442444	broad.mit.edu	37	chrX	37027623	37027623	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtgtcccatctctgcccGgaacctcccaagactcgcgt	10	16	1	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chrX:37027623G>A	ENST00000358047.3	+	1	1192	c.1140G>A	c.(1138-1140)ccG>ccA	p.P380P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	380										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ATCTCTGCCCGGAACCTCCCA	0.617																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1138-1140)ccG>ccA		family with sequence similarity 47, member C							62	62	62					X																	37027623		2202	4300	6502	SO:0001819	synonymous_variant	442444							g.chrX:37027623G>A	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1140G>A	X.37:g.37027623G>A							p.P380P	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1192	+			380					Q6ZU46	Silent	SNP	ENST00000358047.3	37	c.1140G>A	CCDS35227.1																																																																																				0.617	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		3	48	0	0	0	1	0	3	48					A	37027623	G	A	37027623	2	1	164	1	0	0	0	0	0	0	0	1	5571	1103	39	1		1	FAM47C	23	37027623	Silent	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08		37027623	118242937	85	3455											
PHF16	9767	broad.mit.edu	37	chrX	46898446	46898446	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtctgcaacttgtgcaagttGaagacgggggcttgtattca	13	7	2	2			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chrX:46898446G>A	ENST00000218343.4	+	8	1249	c.951G>A	c.(949-951)ttG>ttA	p.L317L	PHF16_ENST00000397189.1_Silent_p.L317L	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						TGTGCAAGTTGAAGACGGGGG	0.532																																						ENST00000218343.4																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						c.(949-951)ttG>ttA									94	79	84					X																	46898446		2203	4300	6503	SO:0001819	synonymous_variant	0				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chrX:46898446G>A																												ENST00000218343.4:c.951G>A	X.37:g.46898446G>A						PHF16_ENST00000397189.1_Silent_p.L317L	p.L317L	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN			8	1249	+			317						Silent	SNP	ENST00000218343.4	37	c.951G>A	CCDS14271.1																																																																																				0.532	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1			6	24	0	0	0	1	0	6	24					A	46898446	G	A	46898446	2	1	164	1	0	0	0	0	0	0	0	1	11827	1281	45	2		2	PHF16	23	46898446	Silent	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	9870823	46898446	108372114	86	3456											
LAMP2	3920	broad.mit.edu	37	chrX	119573020	119573020	+	Intron	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgattagtgttacagagtctGatatccagcataactttttc	7	7	1	3			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chrX:119573020G>C	ENST00000200639.4	-	8	1230				LAMP2_ENST00000540603.1_Missense_Mutation_p.Q361E|LAMP2_ENST00000434600.2_Intron|LAMP2_ENST00000538785.1_Intron|LAMP2_ENST00000371335.4_Missense_Mutation_p.Q408E			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2						blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	enzyme binding (GO:0019899)			endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						TACAGAGTCTGATATCCAGCA	0.348																																						ENST00000371335.4																			0				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						c.(1222-1224)Cag>Gag		lysosomal-associated membrane protein 2							134	115	122					X																	119573020		2203	4300	6503	SO:0001627	intron_variant	0				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane		g.chrX:119573020G>C	X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893		"CD molecules"	6501	protein-coding gene	gene with protein product		309060					Standard	NM_002294		Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301	ENST00000200639.4:c.1093+2564C>G	X.37:g.119573020G>C						LAMP2_ENST00000200639.4_Intron|LAMP2_ENST00000540603.1_Missense_Mutation_p.Q361E|LAMP2_ENST00000538785.1_Intron|LAMP2_ENST00000434600.2_Intron	p.Q408E	NM_013995.2	NP_054701.1	P13473	LAMP2_HUMAN			9	1358	-			408					A8K4X5|D3DTF0|Q16641|Q6Q3G8|Q96J30|Q99534|Q9UD93	Missense_Mutation	SNP	ENST00000200639.4	37	c.1222C>G	CCDS14599.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.201304	0.38905	.	.	ENSG00000005893	ENST00000371335;ENST00000540603	T;T	0.35789	1.29;1.29	5.62	5.62	0.85841	.	.	.	.	.	T	0.29817	0.0745	L	0.28694	0.88	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.13407	0.009;0.002	T	0.04961	-1.0915	9	0.23302	T	0.38	.	17.6029	0.88030	0.0:0.0:1.0:0.0	.	361;408	B4E2S7;P13473-2	.;.	E	408;361	ENSP00000360386:Q408E;ENSP00000440479:Q361E	ENSP00000360386:Q408E	Q	-	1	0	LAMP2	119457048	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.476000	0.97823	2.373000	0.80994	0.600000	0.82982	CAG		0.348	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058099.1			7	33	0	0	0	1	0	7	33					C	119573020	G	C	119573020	1	2	164	0	1	0	0	0	0	0	0	0	8618	1299	45	4		4	LAMP2	23	119573020	Intron	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	72674574	119573020	35697540	87	3457											
MAMLD1	10046	broad.mit.edu	37	chrX	149639635	149639635	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cactgccaccttgcagctgcAgcagcagcagcagcaacagc	10	16	0	0			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chrX:149639635A>T	ENST00000370401.2	+	4	2100	c.1790A>T	c.(1789-1791)cAg>cTg	p.Q597L	MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	597	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TTgcagctgcagcagcagcag	0.607																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1789-1791)cAg>cTg		mastermind-like domain containing 1							67	59	62					X																	149639635		2203	4300	6503	SO:0001583	missense	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639635A>T	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1790A>T	X.37:g.149639635A>T	ENSP00000359428:p.Gln597Leu					MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L	p.Q597L			Q13495	MAMD1_HUMAN			4	2100	+	Acute lymphoblastic leukemia(192;6.56e-05)		597			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	c.1790A>T	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	A	11.70	1.717048	0.30413	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613;ENST00000455522	T;T;T;T;T	0.68181	0.18;-0.31;0.18;0.17;0.83	3.95	-2.22	0.06952	.	0.914301	0.09376	N	0.810639	T	0.65565	0.2703	L	0.44542	1.39	0.26213	N	0.979273	P;P;P;P	0.51351	0.835;0.835;0.944;0.835	P;P;P;P	0.49999	0.529;0.529;0.628;0.529	T	0.63198	-0.6691	10	0.66056	D	0.02	-0.2357	12.9577	0.58441	0.4497:0.5503:0.0:0.0	.	469;572;572;597	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	L	469;597;572;597;572;78	ENSP00000359428:Q597L;ENSP00000414517:Q572L;ENSP00000262858:Q597L;ENSP00000397438:Q572L;ENSP00000389106:Q78L	ENSP00000262858:Q597L	Q	+	2	0	MAMLD1	149390293	0.130000	0.22417	0.006000	0.13384	0.394000	0.30568	0.878000	0.28126	-0.614000	0.05687	-0.496000	0.04628	CAG		0.607	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		3	53	0	0	0	1	0	3	53					T	149639635	A	T	149639635	3	4	164	1	0	0	0	0	1	0	0	0	9208	188	7	5	1800	5	MAMLD1	23	149639635	Missense_Mutation	SNP	A	TCGA-DO-A2HM-01B-11D-A22D-08	30066615	149639635	5630925	88	3458											
EIF4G3	8672	broad.mit.edu	37	chr1	21268202	21268202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacaatgactggagtgtgaGgaggagaagctggaggagtt	18	3	0	3			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr1:21268202G>A	ENST00000264211.8	-	8	1471	c.1277C>T	c.(1276-1278)cCt>cTt	p.P426L	EIF4G3_ENST00000544689.1_5'Flank|EIF4G3_ENST00000536266.1_Missense_Mutation_p.P30L|EIF4G3_ENST00000374927.4_Missense_Mutation_p.P426L|EIF4G3_ENST00000400422.1_Missense_Mutation_p.P426L|EIF4G3_ENST00000374933.3_5'Flank|EIF4G3_ENST00000602326.1_Missense_Mutation_p.P432L|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000374937.3_Missense_Mutation_p.P432L|EIF4G3_ENST00000356916.3_Missense_Mutation_p.P437L	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	426					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGGAGTGTgaggaggagaagc	0.532																																						ENST00000602326.1																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.(1294-1296)cCt>cTt		eukaryotic translation initiation factor 4 gamma, 3							108	103	105					1																	21268202		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21268202G>A	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.1277C>T	1.37:g.21268202G>A	ENSP00000264211:p.Pro426Leu					EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000374937.3_Missense_Mutation_p.P432L|EIF4G3_ENST00000356916.3_Missense_Mutation_p.P437L|EIF4G3_ENST00000400422.1_Missense_Mutation_p.P426L|EIF4G3_ENST00000374927.4_Missense_Mutation_p.P426L|EIF4G3_ENST00000264211.8_Missense_Mutation_p.P426L|EIF4G3_ENST00000536266.1_Missense_Mutation_p.P30L	p.P432L	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	12	1878	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	426					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.1295C>T	CCDS214.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310401	0.60414	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374937;ENST00000536266;ENST00000356916;ENST00000374927;ENST00000537059	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	5.89	5.89	0.94794	.	0.241030	0.42420	D	0.000714	T	0.19366	0.0465	N	0.14661	0.345	0.58432	D	0.999999	P;P;P;B;B;B	0.46142	0.836;0.546;0.873;0.001;0.115;0.0	P;B;P;B;B;B	0.49047	0.526;0.244;0.599;0.003;0.076;0.001	T	0.01468	-1.1347	10	0.46703	T	0.11	-3.7856	12.6832	0.56934	0.0776:0.0:0.9224:0.0	.	426;621;552;30;432;426	B4DXR2;Q59GJ0;B1AN89;F5H564;B9EGQ7;O43432	.;.;.;.;.;IF4G3_HUMAN	L	426;622;426;432;30;552;426;437	ENSP00000264211:P426L;ENSP00000383274:P426L;ENSP00000364073:P432L;ENSP00000444693:P30L;ENSP00000364062:P426L	ENSP00000264211:P426L	P	-	2	0	EIF4G3	21140789	1.000000	0.71417	0.988000	0.46212	0.943000	0.58893	3.553000	0.53713	2.763000	0.94921	0.655000	0.94253	CCT		0.532	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		4	168	0	0	0	1	0	4	168					A	21268202	G	A	21268202	3	1	165	1	0	0	0	0	1	0	0	0	5038	1000	35	2	3576	2	EIF4G3	1	21268202	Missense_Mutation	SNP	G	TCGA-E3-A3DY-01A-11D-A20C-08		21268202	227982419	1	3459											
ZNF362	149076	broad.mit.edu	37	chr1	33747210	33747210	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaaggtatgcccactgaccTttttcaccaagtcagagatg	9	10	2	2			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr1:33747210T>C	ENST00000539719.1	+	6	876	c.706T>C	c.(706-708)Ttt>Ctt	p.F236L	ZNF362_ENST00000373428.5_Missense_Mutation_p.F236L	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	236					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(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCCACTGACCTTTTTCACCAA	0.562																																					Pancreas(162;1431 2676 35353 38425)	ENST00000539719.1																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10						c.(706-708)Ttt>Ctt		zinc finger protein 362							126	110	116					1																	33747210		2203	4300	6503	SO:0001583	missense	149076				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:33747210T>C		CCDS377.1	1p35.1	2013-01-08			ENSG00000160094	ENSG00000160094		"Zinc fingers, C2H2-type"	18079	protein-coding gene	gene with protein product	"rotund homolog (Drosophila)"						Standard	NM_152493		Approved	FLJ25476, lin-29, RN	uc001bxc.1	Q5T0B9	OTTHUMG00000004124	ENST00000539719.1:c.706T>C	1.37:g.33747210T>C	ENSP00000446335:p.Phe236Leu					ZNF362_ENST00000373428.5_Missense_Mutation_p.F236L	p.F236L	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN			6	876	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	236					Q8WYU4	Missense_Mutation	SNP	ENST00000539719.1	37	c.706T>C	CCDS377.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.328162	0.81690	.	.	ENSG00000160094	ENST00000539719;ENST00000373428	T;T	0.41065	1.01;1.01	5.48	5.48	0.80851	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.606264	0.14599	N	0.309726	T	0.61999	0.2392	M	0.72118	2.19	0.53005	D	0.999968	P	0.52842	0.956	P	0.62184	0.899	T	0.63431	-0.6639	10	0.87932	D	0	-12.9425	13.5331	0.61633	0.0:0.0:0.0:1.0	.	236	Q5T0B9	ZN362_HUMAN	L	236	ENSP00000446335:F236L;ENSP00000362527:F236L	ENSP00000362527:F236L	F	+	1	0	ZNF362	33519797	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.991000	0.88244	2.074000	0.62210	0.459000	0.35465	TTT		0.562	ZNF362-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011857.2	NM_152493		3	148	0	0	0	1	0	3	148					C	33747210	T	C	33747210	3	2	165	1	0	0	0	0	1	0	0	0	17865	1609	56	3	724	3	ZNF362	1	33747210	Missense_Mutation	SNP	T	TCGA-E3-A3DY-01A-11D-A20C-08	12479008	33747210	215503411	2	3460											
PLEKHA6	22874	broad.mit.edu	37	chr1	204192635	204192635	+	Frame_Shift_Del	DEL	G	G	-													agctgctgtcggcgccccgtGgggattcagacgacaggggg							TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr1:204192635delG	ENST00000272203.3	-	22	3426	c.3110delC	c.(3109-3111)ccafs	p.P1037fs	PLEKHA6_ENST00000414478.1_Frame_Shift_Del_p.P1057fs	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	1037										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GGCGCCCCGTGGGGATTCAGA	0.592																																						ENST00000272203.3																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(3109-3111)cafs		pleckstrin homology domain containing, family A member 6							20	20	20					1																	204192635		2056	3997	6053	SO:0001589	frameshift_variant	22874							g.chr1:204192635delG	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"Pleckstrin homology (PH) domain containing"	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.3110delC	1.37:g.204192635delG	ENSP00000272203:p.Pro1037fs					PLEKHA6_ENST00000414478.1_Frame_Shift_Del_p.P1057fs	p.P1037fs	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		22	3426	-	all_cancers(21;0.0222)|Breast(84;0.179)		1037					A7MD51|Q5VTI6	Frame_Shift_Del	DEL	ENST00000272203.3	37	c.3110delC	CCDS1444.1																																																																																				0.592	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		2	4						2	4	---	---	---	---	-	204192635	G	-	204192635	7	5	165	1	0	1	0	1	0	0	0	0	12060	1348	47	0	40	0	PLEKHA6	1	204192635	Frame_Shift_Del	DEL	G	TCGA-E3-A3DY-01A-11D-A20C-08	170445425	204192635	45057986	3	3461											
C2orf42	54980	broad.mit.edu	37	chr2	70408980	70408980	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tagcggaatatggttccacaTgtcttgttcttacagctcag	9	9	3	0			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr2:70408980T>A	ENST00000264434.2	-	3	517	c.138A>T	c.(136-138)acA>acT	p.T46T	C2orf42_ENST00000420306.1_Silent_p.T46T|C2orf42_ENST00000470096.1_5'UTR	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	46										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						TGGTTCCACATGTCTTGTTCT	0.493																																						ENST00000264434.2																			0				endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						c.(136-138)acA>acT		chromosome 2 open reading frame 42							160	120	133					2																	70408980		2203	4300	6503	SO:0001819	synonymous_variant	54980							g.chr2:70408980T>A	AK000565	CCDS1899.1	2p14	2011-03-08			ENSG00000115998	ENSG00000115998			26056	protein-coding gene	gene with protein product						12477932	Standard	XM_005264389		Approved	FLJ20558	uc002sgh.3	Q9NWW7	OTTHUMG00000129642	ENST00000264434.2:c.138A>T	2.37:g.70408980T>A						C2orf42_ENST00000420306.1_Silent_p.T46T|C2orf42_ENST00000470096.1_5'UTR	p.T46T	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN			3	517	-			46					D6W5G3|Q9H629	Silent	SNP	ENST00000264434.2	37	c.138A>T	CCDS1899.1																																																																																				0.493	C2orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251840.1	NM_017880		4	145	0	0	0	1	0	4	145					A	70408980	T	A	70408980	2	1	165	1	0	0	0	0	0	0	0	1	2166	1451	51	5		5	C2orf42	2	70408980	Silent	SNP	T	TCGA-E3-A3DY-01A-11D-A20C-08		70408980	172790393	4	3462											
MYO1B	4430	broad.mit.edu	37	chr2	192234339	192234339	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcatggttggtaaatcgaatCaatgaaagcattaaggtact	9	5	2	1			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr2:192234339C>A	ENST00000392318.3	+	12	1351	c.1104C>A	c.(1102-1104)atC>atA	p.I368I	MYO1B_ENST00000304164.4_Silent_p.I368I|MYO1B_ENST00000339514.4_Silent_p.I368I|RNU6-1045P_ENST00000516321.1_RNA|MYO1B_ENST00000392316.1_Silent_p.I368I	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	368	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TAAATCGAATCAATGAAAGCA	0.299																																						ENST00000392318.3																			0				NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55						c.(1102-1104)atC>atA		myosin IB							70	70	70					2																	192234339		2203	4300	6503	SO:0001819	synonymous_variant	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192234339C>A	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"Myosins / Myosin superfamily : Class I"	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.1104C>A	2.37:g.192234339C>A						MYO1B_ENST00000339514.4_Silent_p.I368I|MYO1B_ENST00000392316.1_Silent_p.I368I|MYO1B_ENST00000304164.4_Silent_p.I368I	p.I368I	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		12	1351	+			368			Myosin head-like.		O43794|Q7Z6L5	Silent	SNP	ENST00000392318.3	37	c.1104C>A	CCDS46477.1																																																																																				0.299	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		4	106	1	0	0.248553	1	0.25527	4	106					A	192234339	C	A	192234339	2	1	165	1	0	0	0	0	0	0	0	1	10069	816	29	4		4	MYO1B	2	192234339	Silent	SNP	C	TCGA-E3-A3DY-01A-11D-A20C-08	121825359	192234339	50965034	5	3463											
FGD5	152273	broad.mit.edu	37	chr3	14861821	14861821	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcagcccctgatgtggtgGtcgtgctggaggaggaggcc	18	11	0	1			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr3:14861821G>A	ENST00000285046.5	+	1	1353	c.1243G>A	c.(1243-1245)Gtc>Atc	p.V415I	FGD5_ENST00000543601.1_Missense_Mutation_p.V174I	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	415					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TGATGTGGTGGTCGTGCTGGA	0.682																																						ENST00000285046.5																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(1243-1245)Gtc>Atc		FYVE, RhoGEF and PH domain containing 5							25	30	28					3																	14861821		2055	4179	6234	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14861821G>A	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1243G>A	3.37:g.14861821G>A	ENSP00000285046:p.Val415Ile					FGD5_ENST00000543601.1_Missense_Mutation_p.V174I	p.V415I	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN			1	1353	+			415					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.1243G>A	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.806213	0.31961	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.76709	-1.04;-0.98	5.03	2.87	0.33458	.	0.377412	0.22446	N	0.059959	T	0.58779	0.2146	N	0.20986	0.625	0.22811	N	0.99871	B;B	0.28512	0.214;0.214	B;B	0.20767	0.031;0.031	T	0.42832	-0.9428	10	0.22109	T	0.4	-30.7446	8.3469	0.32279	0.3329:0.0:0.6671:0.0	.	174;415	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	I	415;174	ENSP00000285046:V415I;ENSP00000445949:V174I	ENSP00000285046:V415I	V	+	1	0	FGD5	14836825	0.041000	0.20044	0.441000	0.26858	0.113000	0.19764	0.846000	0.27682	1.116000	0.41820	0.591000	0.81541	GTC		0.682	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		3	54	0	0	0	1	0	3	54					A	14861821	G	A	14861821	3	1	165	1	0	0	0	0	1	0	0	0	5836	1261	44	2	1245	2	FGD5	3	14861821	Missense_Mutation	SNP	G	TCGA-E3-A3DY-01A-11D-A20C-08		14861821	183160609	6	3464											
C3orf63	23272	broad.mit.edu	37	chr3	56681126	56681126	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacagaatgaaaatttatggCgcttatatttttgaattcct	6	5	0	3	rs144722652	byFrequency	TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr3:56681126C>A	ENST00000493960.2	-	14	1649	c.1639G>T	c.(1639-1641)Gcc>Tcc	p.A547S	FAM208A_ENST00000431842.2_Missense_Mutation_p.A151S|FAM208A_ENST00000355628.5_Missense_Mutation_p.A547S	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	547							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						AAATTTATGGCGCTTATATTT	0.328																																						ENST00000431842.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						c.(451-453)Gcc>Tcc		family with sequence similarity 208, member A							40	44	43					3																	56681126		2196	4295	6491	SO:0001583	missense	23272							g.chr3:56681126C>A	AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 63"	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.1639G>T	3.37:g.56681126C>A	ENSP00000417509:p.Ala547Ser					FAM208A_ENST00000355628.5_Missense_Mutation_p.A547S|FAM208A_ENST00000493960.2_Missense_Mutation_p.A547S	p.A151S	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN			7	1375	-			547					A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	ENST00000493960.2	37	c.451G>T	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	C	4.884	0.164362	0.09287	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.11169	2.8;2.98;2.98	5.38	2.98	0.34508	.	0.382752	0.25211	N	0.032305	T	0.03477	0.0100	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.45366	-0.9266	10	0.06365	T	0.9	-2.2419	6.8896	0.24222	0.0:0.136:0.1272:0.7368	.	547;547;151	Q9UK61-3;Q9UK61-4;Q9UK61-2	.;.;.	S	151;547;547	ENSP00000399410:A151S;ENSP00000417509:A547S;ENSP00000347845:A547S	ENSP00000347845:A547S	A	-	1	0	C3orf63	56656166	0.997000	0.39634	0.992000	0.48379	0.913000	0.54294	0.924000	0.28777	0.478000	0.27488	-0.238000	0.12139	GCC		0.328	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		3	65	1	0	1	1	1	3	65					A	56681126	C	A	56681126	3	1	165	1	0	0	0	0	1	0	0	0	2239	768	27	4	3477	4	C3orf63	3	56681126	Missense_Mutation	SNP	C	TCGA-E3-A3DY-01A-11D-A20C-08	41819305	56681126	141341304	7	3465											
NIPBL	25836	broad.mit.edu	37	chr5	36985887	36985887	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaactgataaactagaacgaAaacacaggcatgaatcaggg	9	7	1	3			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr5:36985887A>G	ENST00000282516.8	+	10	3104	c.2605A>G	c.(2605-2607)Aaa>Gaa	p.K869E	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.K869E	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	869					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ACTAGAACGAAAACACAGGCA	0.398																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(2605-2607)Aaa>Gaa		Nipped-B homolog (Drosophila)							48	48	48					5																	36985887		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36985887A>G	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.2605A>G	5.37:g.36985887A>G	ENSP00000282516:p.Lys869Glu					NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.K869E	p.K869E	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		10	3104	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		869					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.2605A>G	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	A	14.50	2.554454	0.45487	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93547	-3.24;-3.24	5.99	5.99	0.97316	.	0.141960	0.51477	D	0.000096	D	0.90345	0.6979	N	0.24115	0.695	0.47094	D	0.999312	P;P	0.50156	0.888;0.932	B;P	0.48571	0.378;0.582	D	0.88663	0.3190	10	0.19147	T	0.46	-17.1723	16.4943	0.84223	1.0:0.0:0.0:0.0	.	869;869	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	E	869	ENSP00000282516:K869E;ENSP00000406266:K869E	ENSP00000282516:K869E	K	+	1	0	NIPBL	37021644	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.780000	0.62382	2.291000	0.77112	0.533000	0.62120	AAA		0.398	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		7	75	0	0	0	1	0	7	75					G	36985887	A	G	36985887	3	3	165	1	0	0	0	0	1	0	0	0	10428	15	1	3	2639	3	NIPBL	5	36985887	Missense_Mutation	SNP	A	TCGA-E3-A3DY-01A-11D-A20C-08		36985887	143929373	8	3466											
RAD17	5884	broad.mit.edu	37	chr5	68692367	68692367	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctcagtggtttctaataaaTaaaaaggtaaaaaaaaaaaa	5	4	2	0	rs200909538	byFrequency	TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr5:68692367T>A	ENST00000509734.1	+	15	2277	c.1599T>A	c.(1597-1599)aaT>aaA	p.N533K	RAD17_ENST00000361732.2_Missense_Mutation_p.N522K|RAD17_ENST00000358030.2_Missense_Mutation_p.N357K|RAD17_ENST00000521422.1_Missense_Mutation_p.N357K|RAD17_ENST00000282891.6_Missense_Mutation_p.N436K|RAD17_ENST00000305138.4_Missense_Mutation_p.N522K|RAD17_ENST00000345306.6_Missense_Mutation_p.N522K|RAD17_ENST00000380774.3_Missense_Mutation_p.N533K|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000354868.5_Missense_Mutation_p.N522K|RAD17_ENST00000354312.3_Missense_Mutation_p.N522K			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	533	Interaction with MCM7.				cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TTCTAATAAATAAAAAGGTAA	0.338								Other conserved DNA damage response genes																														ENST00000509734.1																			0											c.(1597-1599)aaT>aaA	Other conserved DNA damage response genes	RAD17 homolog (S. pombe)							19	19	19					5																	68692367		2203	4300	6503	SO:0001583	missense	5884				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr5:68692367T>A	AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"RAD1 (S. pombe) homolog"			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.1599T>A	5.37:g.68692367T>A	ENSP00000426191:p.Asn533Lys					RAD17_ENST00000380774.3_Missense_Mutation_p.N533K|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000354312.3_Missense_Mutation_p.N522K|RAD17_ENST00000361732.2_Missense_Mutation_p.N522K|RAD17_ENST00000345306.6_Missense_Mutation_p.N522K|RAD17_ENST00000354868.5_Missense_Mutation_p.N522K|RAD17_ENST00000521422.1_Missense_Mutation_p.N357K|RAD17_ENST00000358030.2_Missense_Mutation_p.N357K|RAD17_ENST00000305138.4_Missense_Mutation_p.N522K|RAD17_ENST00000282891.6_Missense_Mutation_p.N436K	p.N533K			O75943	RAD17_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)	15	2277	+		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	533			Interaction with MCM7.		A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Missense_Mutation	SNP	ENST00000509734.1	37	c.1599T>A	CCDS4003.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.328380	0.41197	.	.	ENSG00000152942	ENST00000361732;ENST00000509734;ENST00000354868;ENST00000521422;ENST00000354312;ENST00000345306;ENST00000305138;ENST00000282891;ENST00000358030;ENST00000380774;ENST00000513214	T;T;T;T;T;T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9	5.24	1.46	0.22682	.	0.188302	0.56097	D	0.000039	T	0.25121	0.0610	M	0.64404	1.975	0.37592	D	0.920216	P;P;B	0.43973	0.587;0.823;0.348	B;P;B	0.46320	0.287;0.512;0.191	T	0.19224	-1.0312	10	0.16420	T	0.52	0.2205	5.2212	0.15370	0.0:0.24:0.1489:0.6111	.	533;436;522	O75943;O75943-4;O75943-2	RAD17_HUMAN;.;.	K	522;533;522;357;522;522;522;436;357;533;141	ENSP00000355226:N522K;ENSP00000426191:N533K;ENSP00000346938:N522K;ENSP00000427743:N357K;ENSP00000346271:N522K;ENSP00000311227:N522K;ENSP00000303134:N522K;ENSP00000282891:N436K;ENSP00000350725:N357K;ENSP00000370151:N533K;ENSP00000425005:N141K	ENSP00000282891:N436K	N	+	3	2	RAD17	68728123	1.000000	0.71417	0.998000	0.56505	0.894000	0.52154	1.030000	0.30153	0.071000	0.16664	0.455000	0.32223	AAT		0.338	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1	NM_133344		6	12	0	0	0	1	0	6	12					A	68692367	T	A	68692367	3	1	165	1	0	0	0	0	1	0	0	0	12979	1403	49	5	1662	5	RAD17	5	68692367	Missense_Mutation	SNP	T	TCGA-E3-A3DY-01A-11D-A20C-08	31706480	68692367	112222893	9	3467											
BDP1	55814	broad.mit.edu	37	chr5	70840993	70840993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaaaattctgttgaagagCcccagataaaggactctaaa	9	7	2	4			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr5:70840993C>T	ENST00000358731.4	+	32	6954	c.6691C>T	c.(6691-6693)Ccc>Tcc	p.P2231S	BDP1_ENST00000380675.2_Missense_Mutation_p.P367S	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2231					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TGTTGAAGAGCCCCAGATAAA	0.468																																						ENST00000358731.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(6691-6693)Ccc>Tcc		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB							115	107	109					5																	70840993		1846	4102	5948	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70840993C>T	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.6691C>T	5.37:g.70840993C>T	ENSP00000351575:p.Pro2231Ser					BDP1_ENST00000380675.2_Missense_Mutation_p.P367S	p.P2231S	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	32	6954	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	2231					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.6691C>T	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513164	0.27123	.	.	ENSG00000145734	ENST00000358731;ENST00000451951;ENST00000380675;ENST00000545546	T;T	0.49720	3.6;0.77	4.45	-0.822	0.10819	.	0.848738	0.10487	N	0.668848	T	0.44953	0.1318	L	0.56769	1.78	0.09310	N	1	B;P	0.39326	0.221;0.668	B;B	0.39935	0.161;0.314	T	0.36578	-0.9742	10	0.56958	D	0.05	.	11.3565	0.49620	0.0:0.4328:0.4879:0.0793	.	2231;2231	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	S	2231;1779;367;367	ENSP00000351575:P2231S;ENSP00000370050:P367S	ENSP00000351575:P2231S	P	+	1	0	BDP1	70876749	0.001000	0.12720	0.002000	0.10522	0.062000	0.15995	-0.739000	0.04866	-0.607000	0.05738	-0.795000	0.03280	CCC		0.468	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		22	78	0	0	0	1	0	22	78					T	70840993	C	T	70840993	3	4	165	1	0	0	0	0	1	0	0	0	1395	739	26	2	6817	2	BDP1	5	70840993	Missense_Mutation	SNP	C	TCGA-E3-A3DY-01A-11D-A20C-08	2148626	70840993	110074267	10	3468											
SOX30	11063	broad.mit.edu	37	chr5	157078329	157078329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctaaggtcttgctggtgcGgcccaaaggcaccggacgtt	13	12	1	0			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr5:157078329G>A	ENST00000265007.6	-	1	1099	c.758C>T	c.(757-759)cCg>cTg	p.P253L	SOX30_ENST00000311371.5_Missense_Mutation_p.P253L|SOX30_ENST00000519442.1_Intron	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	253					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGCTGGTGCGGCCCAAAGGC	0.647																																					Esophageal Squamous(31;525 799 19355 21125 41744)	ENST00000265007.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23						c.(757-759)cCg>cTg		SRY (sex determining region Y)-box 30							42	45	44					5																	157078329		2203	4300	6503	SO:0001583	missense	11063				regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr5:157078329G>A	AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"SRY (sex determining region Y)-boxes"	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.758C>T	5.37:g.157078329G>A	ENSP00000265007:p.Pro253Leu					SOX30_ENST00000311371.5_Missense_Mutation_p.P253L|SOX30_ENST00000519442.1_Intron	p.P253L	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	1099	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	253					O94995|Q8IYX6	Missense_Mutation	SNP	ENST00000265007.6	37	c.758C>T	CCDS4339.1	.	.	.	.	.	.	.	.	.	.	G	9.574	1.121787	0.20877	.	.	ENSG00000039600	ENST00000311371;ENST00000265007	D;D	0.97959	-4.63;-4.24	5.18	2.38	0.29361	.	0.538685	0.17001	N	0.190915	D	0.93393	0.7893	L	0.29908	0.895	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.06405	0.002;0.001	D	0.87469	0.2413	10	0.62326	D	0.03	.	5.2346	0.15439	0.2285:0.0:0.6248:0.1467	.	253;253	O94993-2;O94993	.;SOX30_HUMAN	L	253	ENSP00000309343:P253L;ENSP00000265007:P253L	ENSP00000265007:P253L	P	-	2	0	SOX30	157010907	0.001000	0.12720	0.505000	0.27651	0.653000	0.38743	0.690000	0.25451	0.559000	0.29153	0.460000	0.39030	CCG		0.647	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	NM_007017		3	42	0	0	0	1	0	3	42					A	157078329	G	A	157078329	3	1	165	1	0	0	0	0	1	0	0	0	14952	1116	39	1	1523	1	SOX30	5	157078329	Missense_Mutation	SNP	G	TCGA-E3-A3DY-01A-11D-A20C-08	86237336	157078329	23836931	11	3469											
LPA	4018	broad.mit.edu	37	chr6	161020597	161020597	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atagatgaccaagcttggcaAgttcttcctgtgacagtggt	11	8	1	3			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr6:161020597A>G	ENST00000316300.5	-	20	3266	c.3222T>C	c.(3220-3222)acT>acC	p.T1074T	LPA_ENST00000447678.1_Silent_p.T1074T			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3582	Kringle 10. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AAGCTTGGCAAGTTCTTCCTG	0.498																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(3220-3222)acT>acC		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						283	303	296					6																	161020597		2203	4300	6503	SO:0001819	synonymous_variant	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161020597A>G	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3222T>C	6.37:g.161020597A>G						LPA_ENST00000316300.5_Silent_p.T1074T	p.T1074T	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	21	3342	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3582			Kringle 10.		Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	c.3222T>C	CCDS43523.1																																																																																				0.498	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		5	552	0	0	0	1	0	5	552					G	161020597	A	G	161020597	2	3	165	1	0	0	0	0	0	0	0	1	8903	59	3	3		3	LPA	6	161020597	Silent	SNP	A	TCGA-E3-A3DY-01A-11D-A20C-08		161020597	10094470	12	3470											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		45	82	0	0	0	1	0	45	82					T	140453136	A	T	140453136	3	4	165	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E3-A3DY-01A-11D-A20C-08		140453136	18685527	13	3471											
ENTPD8	377841	broad.mit.edu	37	chr9	140332516	140332516	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agggacgtgtgggaggagccCgcatcaaacacgatcccaaa	13	11	1	0	rs531135716	byFrequency	TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr9:140332516C>A	ENST00000472938.1	-	2	163	c.147G>T	c.(145-147)gcG>gcT	p.A49A	ENTPD8_ENST00000371506.2_Silent_p.A49A|ENTPD8_ENST00000344119.2_Silent_p.A49A			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	49					nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GGGAGGAGCCCGCATCAAACA	0.647																																						ENST00000371506.2																			0				biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7						c.(145-147)gcG>gcT		ectonucleoside triphosphate diphosphohydrolase 8							64	65	64					9																	140332516		2199	4300	6499	SO:0001819	synonymous_variant	377841					integral to membrane|plasma membrane	ATP binding	g.chr9:140332516C>A	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"GLSR2492"					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831	ENST00000472938.1:c.147G>T	9.37:g.140332516C>A						ENTPD8_ENST00000472938.1_Silent_p.A49A|ENTPD8_ENST00000344119.2_Silent_p.A49A	p.A49A	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)	3	330	-	all_cancers(76;0.0926)		49					A2BG17|Q6UVZ0	Silent	SNP	ENST00000472938.1	37	c.147G>T	CCDS43913.1																																																																																				0.647	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	NM_198585		3	40	1	0	0.115264	1	0.125144	3	40					A	140332516	C	A	140332516	2	1	165	1	0	0	0	0	0	0	0	1	5145	639	23	4		4	ENTPD8	9	140332516	Silent	SNP	C	TCGA-E3-A3DY-01A-11D-A20C-08		140332516	880915	14	3472											
EIF3F	8665	broad.mit.edu	37	chr11	8014547	8014547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaagtctccagaacggccGcatgagcatcaaagcctacg	9	14	2	2	rs371389618		TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr11:8014547G>A	ENST00000533626.1	+	6	1255	c.629G>A	c.(628-630)cGc>cAc	p.R210H	EIF3F_ENST00000537635.1_Missense_Mutation_p.R225H|EIF3F_ENST00000449102.2_Missense_Mutation_p.R61H|EIF3F_ENST00000309828.4_Missense_Mutation_p.R210H					eukaryotic translation initiation factor 3, subunit F											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAGAACGGCCGCATGAGCATC	0.562																																						ENST00000533626.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13						c.(628-630)cGc>cAc		eukaryotic translation initiation factor 3, subunit F		G	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	93	87	89		629	5.2	1.0	11		89	2,8590	2.2+/-6.3	0,2,4294	no	missense	EIF3F	NM_003754.2	29	0,3,6494	AA,AG,GG		0.0233,0.0227,0.0231	benign	210/358	8014547	3,12991	2201	4296	6497	SO:0001583	missense	8665					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr11:8014547G>A	U94855, AK093511	CCDS7785.1	11p15.4	2010-03-10	2007-07-27	2007-07-27	ENSG00000175390	ENSG00000175390			3275	protein-coding gene	gene with protein product		603914	"eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa"	EIF3S5		9341143	Standard	NM_003754		Approved	eIF3-epsilon, eIF3-p47, eIF3f	uc001mfw.3	O00303		ENST00000533626.1:c.629G>A	11.37:g.8014547G>A	ENSP00000431800:p.Arg210His					EIF3F_ENST00000309828.4_Missense_Mutation_p.R210H|EIF3F_ENST00000449102.2_Missense_Mutation_p.R61H|EIF3F_ENST00000537635.1_Missense_Mutation_p.R225H	p.R210H			O00303	EIF3F_HUMAN		Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	6	1255	+			210						Missense_Mutation	SNP	ENST00000533626.1	37	c.629G>A	CCDS7785.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.109777	0.56398	2.27E-4	2.33E-4	ENSG00000175390	ENST00000533626;ENST00000537635;ENST00000309828;ENST00000538607;ENST00000449102	T;T;T;T	0.46063	1.46;1.46;1.46;0.88	5.2	5.2	0.72013	.	0.053623	0.64402	D	0.000001	T	0.39200	0.1069	L	0.51914	1.62	0.58432	D	0.999993	B	0.29301	0.241	B	0.24155	0.051	T	0.18304	-1.0341	10	0.40728	T	0.16	-11.2214	17.0429	0.86494	0.0:0.0:1.0:0.0	.	210	O00303	EIF3F_HUMAN	H	210;225;210;160;61	ENSP00000431800:R210H;ENSP00000442283:R225H;ENSP00000310040:R210H;ENSP00000396929:R61H	ENSP00000310040:R210H	R	+	2	0	EIF3F	7971123	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.144000	0.71762	2.797000	0.96272	0.655000	0.94253	CGC		0.562	EIF3F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385713.2	NM_003754		4	153	0	0	0	1	0	4	153					A	8014547	G	A	8014547	3	1	165	1	0	0	0	0	1	0	0	0	5016	1087	38	1	643	1	EIF3F	11	8014547	Missense_Mutation	SNP	G	TCGA-E3-A3DY-01A-11D-A20C-08		8014547	126991969	15	3473											
EFEMP2	30008	broad.mit.edu	37	chr11	65635868	65635868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcctcggagcactggtgcGcaccagactcacactcatca	11	15	3	1			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr11:65635868G>A	ENST00000307998.6	-	9	1102	c.872C>T	c.(871-873)gCg>gTg	p.A291V	EFEMP2_ENST00000528176.1_Missense_Mutation_p.A291V|EFEMP2_ENST00000532648.1_5'Flank	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	291	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GCACTGGTGCGCACCAGACTC	0.642																																						ENST00000307998.6																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(871-873)gCg>gTg		EGF containing fibulin-like extracellular matrix protein 2							56	50	52					11																	65635868		2201	4296	6497	SO:0001583	missense	30008				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity	g.chr11:65635868G>A	AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"Fibulins"	3219	protein-coding gene	gene with protein product	"fibulin 4"	604633	"EGF-containing fibulin-like extracellular matrix protein 2"			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.872C>T	11.37:g.65635868G>A	ENSP00000309953:p.Ala291Val					EFEMP2_ENST00000528176.1_Missense_Mutation_p.A291V	p.A291V	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN		READ - Rectum adenocarcinoma(159;0.169)	9	1102	-			291			EGF-like 6; calcium-binding (Potential).		A8K7R4|B3KM31|B3KQT1|O75967	Missense_Mutation	SNP	ENST00000307998.6	37	c.872C>T	CCDS8116.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.826253	0.50739	.	.	ENSG00000172638	ENST00000531645;ENST00000528176;ENST00000307998	D;D;D	0.92446	-3.04;-3.04;-2.21	4.98	1.83	0.25207	EGF-like calcium-binding, conserved site (1);Epidermal growth factor-like (1);EGF-like calcium-binding (1);	0.472661	0.17688	N	0.165400	D	0.84469	0.5479	L	0.41415	1.275	0.09310	N	1	P;P	0.37176	0.586;0.514	B;B	0.29598	0.094;0.104	T	0.72711	-0.4211	10	0.38643	T	0.18	.	8.3974	0.32566	0.0:0.1375:0.5209:0.3416	.	291;291	E9PRU1;O95967	.;FBLN4_HUMAN	V	7;291;291	ENSP00000436521:A7V;ENSP00000434151:A291V;ENSP00000309953:A291V	ENSP00000309953:A291V	A	-	2	0	EFEMP2	65392444	0.048000	0.20356	0.007000	0.13788	0.631000	0.37964	1.196000	0.32198	0.079000	0.16929	0.455000	0.32223	GCG		0.642	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4	NM_016938		3	93	0	0	0	1	0	3	93					A	65635868	G	A	65635868	3	1	165	1	0	0	0	0	1	0	0	0	4942	1087	38	1	471	1	EFEMP2	11	65635868	Missense_Mutation	SNP	G	TCGA-E3-A3DY-01A-11D-A20C-08	57621321	65635868	69370648	16	3474											
NADSYN1	55191	broad.mit.edu	37	chr11	71185490	71185490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagggttgtgacggggaccGcctgtactacgacggctgtg	17	9	0	1	rs199672894		TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr11:71185490G>A	ENST00000319023.2	+	9	904	c.716G>A	c.(715-717)cGc>cAc	p.R239H	NADSYN1_ENST00000539574.1_5'Flank	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	239	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	GACGGGGACCGCCTGTACTAC	0.562																																					Ovarian(79;763 1781 6490 50276)	ENST00000319023.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(715-717)cGc>cAc		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						137	120	126					11																	71185490		2200	4294	6494	SO:0001583	missense	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71185490G>A	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.716G>A	11.37:g.71185490G>A	ENSP00000326424:p.Arg239His						p.R239H	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN			9	904	+			239			CN hydrolase.		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	ENST00000319023.2	37	c.716G>A	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.034868	0.93575	.	.	ENSG00000172890	ENST00000319023	D	0.86297	-2.1	4.7	4.7	0.59300	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (3);	0.000000	0.85682	D	0.000000	D	0.94918	0.8357	H	0.94183	3.505	0.80722	D	1	D	0.89917	1.0	D	0.68353	0.957	D	0.96153	0.9109	10	0.66056	D	0.02	-27.7658	15.1483	0.72677	0.0:0.0:1.0:0.0	.	239	Q6IA69	NADE_HUMAN	H	239	ENSP00000326424:R239H	ENSP00000326424:R239H	R	+	2	0	NADSYN1	70863138	1.000000	0.71417	0.950000	0.38849	0.906000	0.53458	8.541000	0.90644	2.139000	0.66308	0.561000	0.74099	CGC		0.562	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161		8	122	0	0	0	1	0	8	122					A	71185490	G	A	71185490	3	1	165	1	0	0	0	0	1	0	0	0	10138	1087	38	1	750	1	NADSYN1	11	71185490	Missense_Mutation	SNP	G	TCGA-E3-A3DY-01A-11D-A20C-08	5549622	71185490	63821026	17	3475											
POLE	5426	broad.mit.edu	37	chr12	133218793	133218793	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acagcctgaactgttgatctCaacagtggcttggtcatcga	10	10	2	2			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr12:133218793C>G	ENST00000320574.5	-	38	5186	c.5143G>C	c.(5143-5145)Gag>Cag	p.E1715Q	POLE_ENST00000434528.3_5'Flank|POLE_ENST00000535270.1_Missense_Mutation_p.E1688Q	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1715					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CTGTTGATCTCAACAGTGGCT	0.557								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(5143-5145)Gag>Cag	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							117	118	118					12																	133218793		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133218793C>G		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.5143G>C	12.37:g.133218793C>G	ENSP00000322570:p.Glu1715Gln					POLE_ENST00000535270.1_Missense_Mutation_p.E1688Q	p.E1715Q	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	38	5186	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1715					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.5143G>C	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.207838	0.58343	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.22336	1.96;1.96;1.96	5.43	5.43	0.79202	DNA polymerase epsilon, catalytic subunit A, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.31104	0.0786	M	0.75447	2.3	0.58432	D	0.999999	P	0.42871	0.792	B	0.43194	0.411	T	0.09707	-1.0662	10	0.14656	T	0.56	.	19.2593	0.93961	0.0:1.0:0.0:0.0	.	1715	Q07864	DPOE1_HUMAN	Q	1715;1726;1688	ENSP00000322570:E1715Q;ENSP00000406383:E1726Q;ENSP00000445753:E1688Q	ENSP00000322570:E1715Q	E	-	1	0	POLE	131728866	1.000000	0.71417	1.000000	0.80357	0.425000	0.31504	7.405000	0.80007	2.557000	0.86248	0.655000	0.94253	GAG		0.557	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		5	237	0	0	0	1	0	5	237					G	133218793	C	G	133218793	3	3	165	1	0	0	0	0	1	0	0	0	12196	835	29	4	1765	4	POLE	12	133218793	Missense_Mutation	SNP	C	TCGA-E3-A3DY-01A-11D-A20C-08		133218793	633102	18	3476											
FAM48A	55578	broad.mit.edu	37	chr13	37598529	37598529	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgattggtgggggtcgatgTtttacacccttccccaatac	10	10	0	1			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr13:37598529T>C	ENST00000350612.6	-	18	1600	c.1380A>G	c.(1378-1380)aaA>aaG	p.K460K	SUPT20H_ENST00000475892.1_Silent_p.K460K|SUPT20H_ENST00000542180.1_Silent_p.K424K|SUPT20H_ENST00000360252.4_Silent_p.K461K|SUPT20H_ENST00000356185.3_Silent_p.K461K|SUPT20H_ENST00000464744.1_Silent_p.K461K	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	460					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										GGGGTCGATGTTTTACACCCT	0.353																																						ENST00000360252.4																			0											c.(1381-1383)aaA>aaG		suppressor of Ty 20 homolog (S. cerevisiae)							82	76	78					13																	37598529		2203	4300	6503	SO:0001819	synonymous_variant	55578							g.chr13:37598529T>C	AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"p38 interacting protein", "transcription factor (p38 interacting protein)"	613417	"chromosome 13 open reading frame 19", "family with sequence similarity 48, member A"	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.1380A>G	13.37:g.37598529T>C						SUPT20H_ENST00000475892.1_Silent_p.K460K|SUPT20H_ENST00000356185.3_Silent_p.K461K|SUPT20H_ENST00000350612.6_Silent_p.K460K|SUPT20H_ENST00000464744.1_Silent_p.K461K|SUPT20H_ENST00000542180.1_Silent_p.K424K	p.K461K	NM_001278481.1|NM_001278482.1|NM_017569.3	NP_001265410.1|NP_001265411.1|NP_060039.1					18	1630	-								E7ER46|Q71RF3|Q9Y6A6	Silent	SNP	ENST00000350612.6	37	c.1383A>G	CCDS31959.1	.	.	.	.	.	.	.	.	.	.	T	8.816	0.936349	0.18206	.	.	ENSG00000102710	ENST00000469488	.	.	.	5.87	-2.12	0.07165	.	.	.	.	.	T	0.51500	0.1678	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45116	-0.9283	4	.	.	.	-14.3777	7.6492	0.28337	0.0:0.4434:0.1305:0.4262	.	.	.	.	S	68	.	.	N	-	2	0	FAM48A	36496529	1.000000	0.71417	0.414000	0.26521	0.822000	0.46500	0.623000	0.24447	-0.327000	0.08551	-0.334000	0.08254	AAC		0.353	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569		3	93	0	0	0	1	0	3	93					C	37598529	T	C	37598529	2	2	165	1	0	0	0	0	0	0	0	1	5572	1722	60	3		3	FAM48A	13	37598529	Silent	SNP	T	TCGA-E3-A3DY-01A-11D-A20C-08		37598529	77571349	19	3477											
G2E3	55632	broad.mit.edu	37	chr14	31061616	31061616	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atcatttcccatgtggacttCagagagaatgtattttccag	8	8	2	2			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr14:31061616C>G	ENST00000206595.6	+	5	479	c.325C>G	c.(325-327)Cag>Gag	p.Q109E	G2E3_ENST00000553504.1_Missense_Mutation_p.Q139E|G2E3_ENST00000438909.2_Missense_Mutation_p.Q63E|G2E3_ENST00000544007.1_3'UTR	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	109					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						ATGTGGACTTCAGAGAGAATG	0.353																																						ENST00000206595.6																			0				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(325-327)Cag>Gag		G2/M-phase specific E3 ubiquitin protein ligase							119	114	116					14																	31061616		2203	4300	6503	SO:0001583	missense	55632				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr14:31061616C>G	AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"Zinc fingers, PHD-type"	20338	protein-coding gene	gene with protein product	"PHD finger protein 7B"	611299	"KIAA1333"	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.325C>G	14.37:g.31061616C>G	ENSP00000206595:p.Gln109Glu					G2E3_ENST00000544007.1_3'UTR|G2E3_ENST00000553504.1_Missense_Mutation_p.Q139E|G2E3_ENST00000438909.2_Missense_Mutation_p.Q63E	p.Q109E	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN			5	479	+			109					Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Missense_Mutation	SNP	ENST00000206595.6	37	c.325C>G	CCDS9638.1	.	.	.	.	.	.	.	.	.	.	C	7.070	0.568079	0.13560	.	.	ENSG00000092140	ENST00000206595;ENST00000550944;ENST00000438909;ENST00000553504;ENST00000554714;ENST00000547532	T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	5.93	1.88	0.25563	Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);	0.317699	0.39274	N	0.001406	T	0.39489	0.1080	N	0.02854	-0.475	0.34876	D	0.744052	B;B	0.25772	0.01;0.134	B;B	0.23574	0.02;0.047	T	0.32322	-0.9911	10	0.15066	T	0.55	-1.4209	14.7519	0.69533	0.1141:0.3309:0.555:0.0	.	63;109	B4DIF9;Q7L622	.;G2E3_HUMAN	E	109;109;63;139;109;109	ENSP00000206595:Q109E;ENSP00000448745:Q109E;ENSP00000391068:Q63E;ENSP00000451653:Q139E;ENSP00000451147:Q109E;ENSP00000446615:Q109E	ENSP00000206595:Q109E	Q	+	1	0	G2E3	30131367	0.897000	0.30589	0.998000	0.56505	0.969000	0.65631	0.276000	0.18716	0.070000	0.16634	-1.211000	0.01629	CAG		0.353	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769		3	76	0	0	0	1	0	3	76					G	31061616	C	G	31061616	3	3	165	1	0	0	0	0	1	0	0	0	6140	827	29	4	339	4	G2E3	14	31061616	Missense_Mutation	SNP	C	TCGA-E3-A3DY-01A-11D-A20C-08		31061616	76287924	20	3478											
MKL2	57496	broad.mit.edu	37	chr16	14304130	14304130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggctgcaacaaaggaggaCgagagaacaactagtggacc	14	8	0	1			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr16:14304130C>T	ENST00000341243.5	+	2	152	c.152C>T	c.(151-153)aCg>aTg	p.T51M	MKL2_ENST00000571589.1_Missense_Mutation_p.T62M|MKL2_ENST00000573051.1_Missense_Mutation_p.T11M|MKL2_ENST00000318282.5_Missense_Mutation_p.T62M|MKL2_ENST00000574045.1_Missense_Mutation_p.T62M|MKL2_ENST00000572567.1_Missense_Mutation_p.T51M			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	51					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAAAGGAGGACGAGAGAACAA	0.483																																						ENST00000571589.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(184-186)aCg>aTg		MKL/myocardin-like 2							174	135	148					16																	14304130		2197	4300	6497	SO:0001583	missense	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14304130C>T	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.152C>T	16.37:g.14304130C>T	ENSP00000345841:p.Thr51Met					MKL2_ENST00000574045.1_Missense_Mutation_p.T62M|MKL2_ENST00000572567.1_Missense_Mutation_p.T51M|MKL2_ENST00000318282.5_Missense_Mutation_p.T62M|MKL2_ENST00000341243.5_Missense_Mutation_p.T51M|MKL2_ENST00000573051.1_Missense_Mutation_p.T11M	p.T62M	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN			4	357	+			51					A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	37	c.185C>T		.	.	.	.	.	.	.	.	.	.	c	21.7	4.193636	0.78902	.	.	ENSG00000186260	ENST00000318282;ENST00000389126;ENST00000341243	D;D	0.99857	-7.22;-7.22	5.41	5.41	0.78517	.	0.102463	0.64402	D	0.000003	D	0.99854	0.9932	M	0.81341	2.54	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.999	D	0.96746	0.9550	10	0.87932	D	0	-17.4756	18.5536	0.91075	0.0:1.0:0.0:0.0	.	11;62;51;62	Q9ULH7-2;B4DGT8;Q9ULH7;Q9ULH7-4	.;.;MKL2_HUMAN;.	M	62;51;51	ENSP00000339086:T62M;ENSP00000345841:T51M	ENSP00000339086:T62M	T	+	2	0	MKL2	14211631	1.000000	0.71417	0.984000	0.44739	0.980000	0.70556	7.568000	0.82369	2.689000	0.91719	0.655000	0.94253	ACG		0.483	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		5	116	0	0	0	1	0	5	116					T	14304130	C	T	14304130	3	4	165	1	0	0	0	0	1	0	0	0	9602	536	19	1	191	1	MKL2	16	14304130	Missense_Mutation	SNP	C	TCGA-E3-A3DY-01A-11D-A20C-08		14304130	76050623	21	3479											
XPO6	23214	broad.mit.edu	37	chr16	28146602	28146602	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gttgtatctgaactggattcGattcaacacctctgtgagca	9	9	3	2			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr16:28146602G>T	ENST00000304658.5	-	10	1878	c.1378C>A	c.(1378-1380)Cga>Aga	p.R460R	XPO6_ENST00000565698.1_Silent_p.R446R	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	460					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						AACTGGATTCGATTCAACACC	0.478																																						ENST00000304658.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(1378-1380)Cga>Aga		exportin 6							149	147	148					16																	28146602		2030	4188	6218	SO:0001819	synonymous_variant	23214				protein export from nucleus		protein binding|protein transporter activity	g.chr16:28146602G>T	AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"Exportins"	19733	protein-coding gene	gene with protein product		608411	"RAN binding protein 20"	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.1378C>A	16.37:g.28146602G>T						XPO6_ENST00000565698.1_Silent_p.R446R	p.R460R	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN			10	1878	-			460					A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Silent	SNP	ENST00000304658.5	37	c.1378C>A	CCDS42135.1																																																																																				0.478	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		4	215	1	0	0.0215528	1	0.0240884	4	215					T	28146602	G	T	28146602	2	4	165	1	0	0	0	0	0	0	0	1	17445	1066	37	4		4	XPO6	16	28146602	Silent	SNP	G	TCGA-E3-A3DY-01A-11D-A20C-08	13842472	28146602	62208151	22	3480											
DNAH2	146754	broad.mit.edu	37	chr17	7662780	7662780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacatgattcggctggaccGcatgatggaggatgccctgc	14	10	0	2			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr17:7662780G>A	ENST00000572933.1	+	16	3949	c.2489G>A	c.(2488-2490)cGc>cAc	p.R830H	DNAH2_ENST00000389173.2_Missense_Mutation_p.R830H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	830	Stem. {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)	p.R830L(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CGGCTGGACCGCATGATGGAG	0.527																																						ENST00000572933.1																			1	Substitution - Missense(1)	p.R830L(1)	lung(1)	NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(2488-2490)cGc>cAc		dynein, axonemal, heavy chain 2							101	89	93					17																	7662780		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7662780G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.2489G>A	17.37:g.7662780G>A	ENSP00000458355:p.Arg830His					DNAH2_ENST00000389173.2_Missense_Mutation_p.R830H	p.R830H			Q9P225	DYH2_HUMAN			16	3949	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	830			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.2489G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.620310	0.28801	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.23552	1.9	5.37	-2.47	0.06442	.	0.635976	0.15408	N	0.263929	T	0.12689	0.0308	N	0.12961	0.28	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20840	-1.0263	10	0.18710	T	0.47	.	12.7885	0.57520	0.3356:0.0:0.6644:0.0	.	830	Q9P225	DYH2_HUMAN	H	830	ENSP00000373825:R830H	ENSP00000353818:R830H	R	+	2	0	DNAH2	7603505	0.010000	0.17322	0.996000	0.52242	0.907000	0.53573	-0.477000	0.06583	-0.174000	0.10743	-0.678000	0.03780	CGC		0.527	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		4	171	0	0	0	1	0	4	171					A	7662780	G	A	7662780	3	1	165	1	0	0	0	0	1	0	0	0	4602	1087	38	1	2547	1	DNAH2	17	7662780	Missense_Mutation	SNP	G	TCGA-E3-A3DY-01A-11D-A20C-08		7662780	73532430	23	3481											
SNF8	11267	broad.mit.edu	37	chr17	47018424	47018424	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catgtccaactgctttgacaTctgttggatggacagggagt	12	8	1	1			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr17:47018424T>A	ENST00000502492.1	-	3	488	c.106A>T	c.(106-108)Atg>Ttg	p.M36L	SNF8_ENST00000290330.3_Splice_Site_p.M36L			Q96H20	SNF8_HUMAN	SNF8, ESCRT-II complex subunit	36					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|lung(1)	3						TGCTTTGACATCTGTTGGATG	0.512																																						ENST00000502492.1																			0				breast(1)|endometrium(1)|lung(1)	3						c.e3-1		SNF8, ESCRT-II complex subunit							113	104	107					17																	47018424		2203	4300	6503	SO:0001630	splice_region_variant	11267				cellular membrane organization|endosome transport|protein transport|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytosol|late endosome membrane|transcription factor complex	transcription factor binding	g.chr17:47018424T>A	AF156102	CCDS11541.1	17q21.32	2013-06-05	2013-06-05		ENSG00000159210	ENSG00000159210			17028	protein-coding gene	gene with protein product		610904	"SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae)"			10419521, 15329733	Standard	NM_007241		Approved	EAP30, VPS22, Dot3	uc002ioj.3	Q96H20	OTTHUMG00000160569	ENST00000502492.1:c.106-1A>T	17.37:g.47018424T>A						SNF8_ENST00000290330.3_Splice_Site_p.M36_splice	p.M36_splice			Q96H20	SNF8_HUMAN			3	488	-			36					Q8IXY3|Q9UN50	Splice_Site	SNP	ENST00000502492.1	37	c.105_splice	CCDS11541.1	.	.	.	.	.	.	.	.	.	.	t	17.76	3.468103	0.63625	.	.	ENSG00000159210	ENST00000502492;ENST00000290330;ENST00000510558	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.43875	0.1267	N	0.17474	0.49	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.39781	-0.9597	9	0.87932	D	0	-29.9445	14.9547	0.71104	0.0:0.0:0.0:1.0	.	36;36	Q96H20-2;Q96H20	.;SNF8_HUMAN	L	36	.	ENSP00000290330:M36L	M	-	1	0	SNF8	44373423	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.542000	0.82095	2.201000	0.70794	0.529000	0.55759	ATG		0.512	SNF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361172.1	NM_007241	Missense_Mutation	4	222	0	0	0	1	0	4	222					A	47018424	T	A	47018424	5	1	165	1	0	0	0	0	0	0	1	0	14846	1449	50	5	694	5	SNF8	17	47018424	Splice_Site	SNP	T	TCGA-E3-A3DY-01A-11D-A20C-08	39355644	47018424	34176786	24	3482											
SLC26A11	284129	broad.mit.edu	37	chr17	78201660	78201660	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggtctgcatgctgctgctgCtggtgctgaagctgatgcgg	16	9	1	2			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr17:78201660C>G	ENST00000361193.3	+	7	917	c.637C>G	c.(637-639)Ctg>Gtg	p.L213V	SLC26A11_ENST00000411502.3_Missense_Mutation_p.L213V|SLC26A11_ENST00000546047.2_Missense_Mutation_p.L213V|SLC26A11_ENST00000572725.1_Missense_Mutation_p.L213V	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3			solute carrier family 26 (anion exchanger), member 11											central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCTGCTGCTGCTGGTGCTGAA	0.682																																						ENST00000361193.3																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28						c.(637-639)Ctg>Gtg		solute carrier family 26 (anion exchanger), member 11							97	79	85					17																	78201660		2203	4300	6503	SO:0001583	missense	284129					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity	g.chr17:78201660C>G		CCDS11771.2	17q25	2013-07-18	2013-07-18		ENSG00000181045	ENSG00000181045		"Solute carriers"	14471	protein-coding gene	gene with protein product		610117	"solute carrier family 26, member 11"				Standard	NM_001166347		Approved		uc010dhv.2	Q86WA9	OTTHUMG00000133419	ENST00000361193.3:c.637C>G	17.37:g.78201660C>G	ENSP00000355384:p.Leu213Val					SLC26A11_ENST00000572725.1_Missense_Mutation_p.L213V|SLC26A11_ENST00000546047.2_Missense_Mutation_p.L213V|SLC26A11_ENST00000411502.3_Missense_Mutation_p.L213V	p.L213V	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		7	917	+	all_neural(118;0.0538)		213						Missense_Mutation	SNP	ENST00000361193.3	37	c.637C>G	CCDS11771.2	.	.	.	.	.	.	.	.	.	.	C	11.67	1.709174	0.30322	.	.	ENSG00000181045	ENST00000411502;ENST00000546047;ENST00000361193	D;D;D	0.93712	-3.27;-3.27;-3.27	4.52	2.46	0.29980	Sulphate transporter (1);	0.469026	0.21816	N	0.068696	D	0.86497	0.5947	N	0.25825	0.765	0.36688	D	0.879447	B	0.13594	0.008	B	0.18561	0.022	T	0.79614	-0.1730	10	0.39692	T	0.17	-11.579	7.8613	0.29511	0.0:0.5225:0.3851:0.0924	.	213	Q86WA9	S2611_HUMAN	V	213	ENSP00000403998:L213V;ENSP00000440724:L213V;ENSP00000355384:L213V	ENSP00000355384:L213V	L	+	1	2	SLC26A11	75816255	0.824000	0.29247	0.999000	0.59377	0.992000	0.81027	0.799000	0.27028	0.327000	0.23409	0.491000	0.48974	CTG		0.682	SLC26A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257281.1			3	220	0	0	0	1	0	3	220					G	78201660	C	G	78201660	3	3	165	1	0	0	0	0	1	0	0	0	14516	796	28	4	655	4	SLC26A11	17	78201660	Missense_Mutation	SNP	C	TCGA-E3-A3DY-01A-11D-A20C-08	31183236	78201660	2993550	25	3483											
ZNF44	51710	broad.mit.edu	37	chr19	12384688	12384688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgacactcccggtgtttgtGtccagtatcaactctgatgt	9	10	2	2			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr19:12384688G>A	ENST00000356109.5	-	5	644	c.526C>T	c.(526-528)Cac>Tac	p.H176Y	ZNF44_ENST00000355684.5_Missense_Mutation_p.H128Y	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	176					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		CGGTGTTTGTGTCCAGTATCA	0.443																																						ENST00000356109.5																			0				ovary(1)	1						c.(526-528)Cac>Tac		zinc finger protein 44							155	155	155					19																	12384688		2180	4292	6472	SO:0001583	missense	51710				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:12384688G>A	X52338	CCDS45988.1, CCDS54223.1	19p13.2	2013-01-08	2006-05-11		ENSG00000197857	ENSG00000197857		"Zinc fingers, C2H2-type", "-"	13110	protein-coding gene	gene with protein product		194542	"zinc finger protein 58", "zinc finger protein 44 (KOX 7)", "zinc finger protein 55"	ZNF58, ZNF55		1946370, 1505991	Standard	NM_016264		Approved	KOX7, ZNF504	uc010xmj.2	P15621	OTTHUMG00000156424	ENST00000356109.5:c.526C>T	19.37:g.12384688G>A	ENSP00000348419:p.His176Tyr					ZNF44_ENST00000355684.5_Missense_Mutation_p.H128Y	p.H176Y	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)	5	644	-		Renal(1328;0.157)	176					B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	Missense_Mutation	SNP	ENST00000356109.5	37	c.526C>T	CCDS54223.1	.	.	.	.	.	.	.	.	.	.	G	5.909	0.351784	0.11182	.	.	ENSG00000197857	ENST00000393337;ENST00000356109;ENST00000457673;ENST00000355684	T;T;T	0.07216	3.26;3.21;3.25	1.28	0.0261	0.14148	.	.	.	.	.	T	0.05135	0.0137	N	0.25789	0.76	.	.	.	P;P	0.37500	0.528;0.597	B;B	0.33568	0.105;0.166	T	0.30208	-0.9986	8	0.87932	D	0	.	4.4495	0.11614	0.0:0.4595:0.3097:0.2307	.	176;128	P15621;F8W7T7	ZNF44_HUMAN;.	Y	176;176;128;128	ENSP00000377008:H176Y;ENSP00000348419:H176Y;ENSP00000347910:H128Y	ENSP00000347910:H128Y	H	-	1	0	ZNF44	12245688	0.000000	0.05858	0.001000	0.08648	0.315000	0.28087	-0.448000	0.06820	0.070000	0.16634	0.313000	0.20887	CAC		0.443	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344132.1	NM_016264		4	161	0	0	0	1	0	4	161					A	12384688	G	A	12384688	3	1	165	1	0	0	0	0	1	0	0	0	17909	1377	48	2	1469	2	ZNF44	19	12384688	Missense_Mutation	SNP	G	TCGA-E3-A3DY-01A-11D-A20C-08		12384688	46744295	26	3484											
NTSR1	4923	broad.mit.edu	37	chr20	61386045	61386045	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctctcctgcaggtcaacacCttcatgtccttcatattccc	4	17	4	0			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr20:61386045C>A	ENST00000370501.3	+	2	1094	c.723C>A	c.(721-723)acC>acA	p.T241T		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	241					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			AGGTCAACACCTTCATGTCCT	0.612																																					GBM(37;400 780 6403 19663 35669)	ENST00000370501.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27						c.(721-723)acC>acA		neurotensin receptor 1 (high affinity)							129	115	120					20																	61386045		2202	4300	6502	SO:0001819	synonymous_variant	4923					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	g.chr20:61386045C>A		CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"GPCR / Class A : Neurotensin receptors"	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.723C>A	20.37:g.61386045C>A							p.T241T	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		2	1094	+	Breast(26;3.65e-08)		241					Q9H4H1|Q9H4T5	Silent	SNP	ENST00000370501.3	37	c.723C>A	CCDS13502.1																																																																																				0.612	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1			4	223	1	0	0.150653	1	0.159023	4	223					A	61386045	C	A	61386045	2	1	165	1	0	0	0	0	0	0	0	1	10710	668	24	4		4	NTSR1	20	61386045	Silent	SNP	C	TCGA-E3-A3DY-01A-11D-A20C-08		61386045	1639475	27	3485											
DOCK11	139818	broad.mit.edu	37	chrX	117819770	117819770	+	Nonstop_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaagatacgctgaagtgtgAggaaatgcagatgtacgtga	13	6	0	5			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chrX:117819770A>G	ENST00000276202.7	+	53	6285	c.6222A>G	c.(6220-6222)tgA>tgG	p.*2074W	DOCK11_ENST00000276204.6_Nonstop_Mutation_p.*2078W	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	0					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CTGAAGTGTGAGGAAATGCAG	0.393																																						ENST00000276204.6																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(6232-6234)tgA>tgG		dedicator of cytokinesis 11							186	154	165					X																	117819770		2203	4300	6503	SO:0001578	stop_lost	139818				blood coagulation	cytosol	GTP binding	g.chrX:117819770A>G	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.6222A>G	X.37:g.117819770A>G	ENSP00000276202:p.*2074Trpext*23					DOCK11_ENST00000276202.7_Nonstop_Mutation_p.*2074W	p.*2078W			Q5JSL3	DOC11_HUMAN			53	6308	+			0					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Nonstop_Mutation	SNP	ENST00000276202.7	37	c.6234A>G	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	A	16.46	3.130238	0.56721	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	.	.	.	5.93	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.2831	0.21019	0.6379:0.2767:0.0854:0.0	.	.	.	.	W	2078;2074	.	.	X	+	3	0	DOCK11	117703798	1.000000	0.71417	0.987000	0.45799	0.947000	0.59692	3.430000	0.52807	0.856000	0.35383	0.486000	0.48141	TGA		0.393	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		3	132	0	0	0	1	0	3	132					G	117819770	A	G	117819770	4	3	165	1	0	0	0	0	0	0	0	0	4686	317	11	3	6432	3	DOCK11	23	117819770	Nonstop_Mutation	SNP	A	TCGA-E3-A3DY-01A-11D-A20C-08		117819770	37450790	28	3486											
FAM122B	159090	broad.mit.edu	37	chrX	133919917	133919917	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaccacgctgctacataccTtttcttttaagaggaccaag	6	12	2	1			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chrX:133919917T>C	ENST00000370790.1	-	7	1429	c.501A>G	c.(499-501)aaA>aaG	p.K167K	FAM122B_ENST00000486347.1_Splice_Site_p.K168K|FAM122B_ENST00000343004.5_Splice_Site_p.K186K|FAM122B_ENST00000298090.6_Splice_Site_p.K186K|FAM122B_ENST00000493333.1_5'UTR	NM_001166599.2|NM_145284.5	NP_001160071.1|NP_660327.2	Q7Z309	F122B_HUMAN	family with sequence similarity 122B	167										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|skin(1)	6	Acute lymphoblastic leukemia(192;0.000127)					gctacatACCTTTTCTTTTAA	0.388																																						ENST00000370790.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|skin(1)	6						c.e7+1		family with sequence similarity 122B							184	137	153					X																	133919917		2203	4300	6503	SO:0001630	splice_region_variant	159090							g.chrX:133919917T>C	BX538218	CCDS14643.1, CCDS55497.1, CCDS55498.1	Xq26.3	2008-02-05			ENSG00000156504	ENSG00000156504			30490	protein-coding gene	gene with protein product						12477932	Standard	NM_145284		Approved	DKFZp686L20116, RP11-308B5.5	uc004exq.3	Q7Z309	OTTHUMG00000022461	ENST00000370790.1:c.502+1A>G	X.37:g.133919917T>C						FAM122B_ENST00000486347.1_Splice_Site_p.K168_splice|FAM122B_ENST00000493333.1_5'UTR|FAM122B_ENST00000343004.5_Splice_Site_p.K186_splice|FAM122B_ENST00000298090.6_Splice_Site_p.K186_splice	p.K167_splice	NM_001166599.2|NM_145284.5	NP_001160071.1|NP_660327.2	Q7Z309	F122B_HUMAN			7	1429	-	Acute lymphoblastic leukemia(192;0.000127)		167					A8K902|Q6PIM2|Q6ZU47|Q6ZV64|Q6ZVE4|Q8TB75	Splice_Site	SNP	ENST00000370790.1	37	c.502_splice	CCDS55497.1																																																																																				0.388	FAM122B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058382.1	NM_145284	Silent	3	89	0	0	0	1	0	3	89					C	133919917	T	C	133919917	5	2	165	1	0	0	0	0	0	0	1	0	5420	1623	56	3	328	3	FAM122B	23	133919917	Splice_Site	SNP	T	TCGA-E3-A3DY-01A-11D-A20C-08	16100147	133919917	21350643	29	3487											
NLGN4Y	22829	broad.mit.edu	37	chrY	16734111	16734111	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcttgccatcaagttcaccCtcattgacagccaagcacag	6	15	4	1			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chrY:16734111C>G	ENST00000297967.5	+	1	211	c.112C>G	c.(112-114)Ctc>Gtc	p.L38V	NLGN4Y_ENST00000476359.1_3'UTR	NM_001164238.1	NP_001157710.1	Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked	38					learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						CAAGTTCACCCTCATTGACAG	0.463																																						ENST00000297967.5																			0				large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						c.(112-114)Ctc>Gtc		neuroligin 4, Y-linked																																				SO:0001583	missense	22829				brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrY:16734111C>G		CCDS14788.1, CCDS55553.1, CCDS56619.1	Yq11.221	2013-09-20	2004-05-21		ENSG00000165246	ENSG00000165246			15529	protein-coding gene	gene with protein product		400028	"neuroligin 4, Y linked"			10231032	Standard	NM_014893		Approved	KIAA0951	uc004ftg.2	Q8NFZ3	OTTHUMG00000036618	ENST00000297967.5:c.112C>G	Y.37:g.16734111C>G	ENSP00000297967:p.Leu38Val					NLGN4Y_ENST00000476359.1_3'UTR	p.L38V	NM_001164238.1	NP_001157710.1	Q8NFZ3	NLGNY_HUMAN			1	211	+			38					F5H6W0|Q14D08|Q7Z3T5|Q8N5B6|Q9Y2F8	Missense_Mutation	SNP	ENST00000297967.5	37	c.112C>G	CCDS55553.1																																																																																				0.463	NLGN4Y-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014893		5	66	0	0	0	1	0	5	66					G	16734111	C	G	16734111	3	3	165	1	0	0	0	0	1	0	0	0	10465	681	24	4	114	4	NLGN4Y	24	16734111	Missense_Mutation	SNP	C	TCGA-E3-A3DY-01A-11D-A20C-08		16734111	42639455	30	3488											
KIAA1522	57648	broad.mit.edu	37	chr1	33233411	33233411	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgccaaggctgagaatgacAaacatctaagtgtagggcct	11	9	1	2			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr1:33233411A>G	ENST00000373480.1	+	2	185	c.82A>G	c.(82-84)Aaa>Gaa	p.K28E	KIAA1522_ENST00000373481.3_Missense_Mutation_p.K39E|KIAA1522_ENST00000401073.2_Missense_Mutation_p.K87E|KIAA1522_ENST00000294521.3_Missense_Mutation_p.K28E	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	28										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TGAGAATGACAAACATCTAAG	0.602																																						ENST00000401073.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(259-261)Aaa>Gaa		KIAA1522							99	101	100					1																	33233411		1921	4113	6034	SO:0001583	missense	57648							g.chr1:33233411A>G	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.82A>G	1.37:g.33233411A>G	ENSP00000362579:p.Lys28Glu					KIAA1522_ENST00000294521.3_Missense_Mutation_p.K28E|KIAA1522_ENST00000373480.1_Missense_Mutation_p.K28E|KIAA1522_ENST00000373481.3_Missense_Mutation_p.K39E	p.K87E	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN			2	329	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	28					B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	ENST00000373480.1	37	c.259A>G	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.779994	0.49891	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000294521;ENST00000373480	T;T;T;T	0.33438	2.65;2.58;1.41;2.62	4.63	3.4	0.38934	.	0.365474	0.22952	N	0.053660	T	0.23492	0.0568	L	0.38175	1.15	0.22796	N	0.998721	B;P;B;B	0.42248	0.206;0.774;0.218;0.218	B;B;B;B	0.39299	0.059;0.296;0.059;0.059	T	0.13575	-1.0504	10	0.54805	T	0.06	0.1694	9.8111	0.40824	0.7332:0.2668:0.0:0.0	.	28;39;28;87	B4DQU8;Q9P206-3;Q9P206;Q9P206-2	.;.;K1522_HUMAN;.	E	87;39;28;28	ENSP00000383851:K87E;ENSP00000362580:K39E;ENSP00000294521:K28E;ENSP00000362579:K28E	ENSP00000294521:K28E	K	+	1	0	KIAA1522	33005998	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	2.777000	0.47717	2.034000	0.60081	0.379000	0.24179	AAA		0.602	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			6	167	0	0	0	0.335167	0	6	167					G	33233411	A	G	33233411	3	3	166	1	0	0	0	0	1	0	0	0	8238	131	5	3	265	3	KIAA1522	1	33233411	Missense_Mutation	SNP	A	TCGA-E3-A3DZ-01A-11D-A20C-08		33233411	216017210	1	3489											
NEXN	91624	broad.mit.edu	37	chr1	78390884	78390887	+	Frame_Shift_Del	DEL	AAAC	AAAC	-													attcaatagattgaggacatAaacaatacgggaactgaatc							TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr1:78390884_78390887delAAAC	ENST00000334785.7	+	6	643_646	c.459_462delAAAC	c.(457-462)ataaacfs	p.IN153fs	NEXN_ENST00000457030.1_Intron|NEXN_ENST00000330010.8_Frame_Shift_Del_p.IN89fs	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		TTGAGGACATAAACAATACGGGAA	0.289																																						ENST00000330010.8																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(265-270)atfs		nexilin (F actin binding protein)																																				SO:0001589	frameshift_variant	91624				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle	g.chr1:78390884_78390887delAAAC	AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"Immunoglobulin superfamily / I-set domain containing"	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.459_462delAAAC	1.37:g.78390884_78390887delAAAC	ENSP00000333938:p.Ile153fs					NEXN_ENST00000457030.1_Intron|NEXN_ENST00000334785.7_Frame_Shift_Del_p.IN153fs	p.IN89fs	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN		Colorectal(170;0.114)	5	564_567	+			153			Glu-rich.			Frame_Shift_Del	DEL	ENST00000334785.7	37	c.267_270delAAAC	CCDS41351.1																																																																																				0.289	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573		8	142						8	142	---	---	---	---	-	78390887	AAAC	-	78390884	7	5	166	1	0	1	0	1	0	0	0	0	10355	352	13	0	477	0	NEXN	1	78390884	Frame_Shift_Del	DEL	AAAC	TCGA-E3-A3DZ-01A-11D-A20C-08	45157473	78390884	170859737	2	3490											
SPAG17	200162	broad.mit.edu	37	chr1	118565931	118565931	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aggcttcaattgttacctttCtttgtgttggtaatctcaga	8	7	3	1			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr1:118565931C>G	ENST00000336338.5	-	28	4130	c.4065G>C	c.(4063-4065)aaG>aaC	p.K1355N		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1355						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TGTTACCTTTCTTTGTGTTGG	0.363																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(4063-4065)aaG>aaC		sperm associated antigen 17							100	95	97					1																	118565931		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118565931C>G		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4065G>C	1.37:g.118565931C>G	ENSP00000337804:p.Lys1355Asn						p.K1355N	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	28	4130	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1355					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.4065G>C	CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786100	0.49997	.	.	ENSG00000155761	ENST00000336338	T	0.24908	1.83	5.87	3.95	0.45737	.	0.236733	0.41605	D	0.000848	T	0.27594	0.0678	M	0.68952	2.095	0.30123	N	0.805503	D	0.76494	0.999	P	0.59948	0.866	T	0.06481	-1.0824	10	0.54805	T	0.06	.	8.944	0.35747	0.0:0.8211:0.0:0.1789	.	1355	Q6Q759	SPG17_HUMAN	N	1355	ENSP00000337804:K1355N	ENSP00000337804:K1355N	K	-	3	2	SPAG17	118367454	1.000000	0.71417	1.000000	0.80357	0.376000	0.30014	0.910000	0.28571	1.427000	0.47276	0.591000	0.81541	AAG		0.363	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		23	25	0	0	0	0.706142	0	23	25					G	118565931	C	G	118565931	3	3	166	1	0	0	0	0	1	0	0	0	14979	912	32	4	2690	4	SPAG17	1	118565931	Missense_Mutation	SNP	C	TCGA-E3-A3DZ-01A-11D-A20C-08	40175047	118565931	130684690	3	3491											
ZNF692	55657	broad.mit.edu	37	chr1	249151529	249151529	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcctctgaaggtgtagggcTcaaagagggtccccaggaga	15	9	2	3			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr1:249151529T>G	ENST00000306601.4	-	4	545	c.379A>C	c.(379-381)Agc>Cgc	p.S127R	AL672294.1_ENST00000417047.1_RNA|ZNF692_ENST00000366471.3_Missense_Mutation_p.S127R|ZNF692_ENST00000366469.5_Missense_Mutation_p.S127R|ZNF692_ENST00000427146.1_Missense_Mutation_p.S127R|ZNF692_ENST00000451251.1_Missense_Mutation_p.S132R|ZNF692_ENST00000468455.1_5'UTR	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692	127					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(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GGTGTAGGGCTCAAAGAGGGT	0.637																																						ENST00000451251.1																			0				endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17						c.(394-396)Agc>Cgc		zinc finger protein 692							95	97	96					1																	249151529		2203	4300	6503	SO:0001583	missense	55657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249151529T>G	BC002948	CCDS31127.1, CCDS44348.1, CCDS53487.1	1q44	2013-01-08			ENSG00000171163	ENSG00000171163		"Zinc fingers, C2H2-type"	26049	protein-coding gene	gene with protein product						12477932	Standard	NM_001136036		Approved	FLJ20531, Zfp692	uc001ifc.2	Q9BU19	OTTHUMG00000040423	ENST00000306601.4:c.379A>C	1.37:g.249151529T>G	ENSP00000305483:p.Ser127Arg					ZNF692_ENST00000306601.4_Missense_Mutation_p.S127R|ZNF692_ENST00000366471.3_Missense_Mutation_p.S127R|ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000366469.5_Missense_Mutation_p.S127R|ZNF692_ENST00000427146.1_Missense_Mutation_p.S127R	p.S132R	NM_001136036.2	NP_001129508.1	Q9BU19	ZN692_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		4	739	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	127					B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Missense_Mutation	SNP	ENST00000306601.4	37	c.394A>C	CCDS31127.1	.	.	.	.	.	.	.	.	.	.	T	12.63	1.995091	0.35226	.	.	ENSG00000171163	ENST00000306601;ENST00000427146;ENST00000366471;ENST00000366469;ENST00000451251;ENST00000496231	T;T;T;T;T	0.08282	3.16;3.14;3.14;3.11;3.13	4.12	0.908	0.19326	.	0.666587	0.14389	N	0.322631	T	0.03095	0.0091	N	0.08118	0	0.09310	N	1	B;B;B	0.11235	0.002;0.004;0.002	B;B;B	0.09377	0.002;0.004;0.002	T	0.45308	-0.9270	10	0.15499	T	0.54	-0.0631	2.4558	0.04529	0.23:0.4915:0.0:0.2786	.	132;127;127	B4DXZ0;Q9BU19-2;Q9BU19	.;.;ZN692_HUMAN	R	127;127;127;127;132;127	ENSP00000305483:S127R;ENSP00000390044:S127R;ENSP00000355427:S127R;ENSP00000355425:S127R;ENSP00000391200:S132R	ENSP00000305483:S127R	S	-	1	0	ZNF692	247118152	0.001000	0.12720	0.007000	0.13788	0.409000	0.31022	-0.031000	0.12287	0.188000	0.20168	0.519000	0.50382	AGC		0.637	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097298.1	NM_017865		54	81	0	0	0	0.870114	0	54	81					G	249151529	T	G	249151529	3	3	166	1	0	0	0	0	1	0	0	0	18094	1551	54	5	1216	5	ZNF692	1	249151529	Missense_Mutation	SNP	T	TCGA-E3-A3DZ-01A-11D-A20C-08	130585598	249151529	99092	4	3492											
RGPD2	729857	broad.mit.edu	37	chr2	88125234	88125234	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtaccgctccccgtaggcTttgctgcgcctcatcgcacc	10	17	1	0	rs550032815	byFrequency	TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr2:88125234T>C	ENST00000398146.3	-	1	237	c.15A>G	c.(13-15)aaA>aaG	p.K5K	RGPD2_ENST00000420840.2_Intron|RGPD2_ENST00000327544.6_5'UTR			P0DJD1	RGPD2_HUMAN	RANBP2-like and GRIP domain containing 2	5					protein targeting to Golgi (GO:0000042)					breast(1)|pancreas(1)	2						CCCCGTAGGCTTTGCTGCGCC	0.667													.|||	4	0.000798722	0	0	5008	,	,		10105	0		0.002	False		,,,				2504	0.002					ENST00000398146.3																			0				breast(1)|pancreas(1)	2						c.(13-15)aaA>aaG		RANBP2-like and GRIP domain containing 2							36	56	50					2																	88125234		692	1591	2283	SO:0001819	synonymous_variant	729857				intracellular transport		binding	g.chr2:88125234T>C		CCDS42710.1, CCDS42710.2	2p11.2	2013-01-10			ENSG00000185304	ENSG00000185304		"Tetratricopeptide (TTC) repeat domain containing"	32415	protein-coding gene	gene with protein product		612705				15710750, 15815621	Standard	NM_001078170		Approved	RGP2, RANBP2L2		P0DJD1	OTTHUMG00000153276	ENST00000398146.3:c.15A>G	2.37:g.88125234T>C						RGPD2_ENST00000327544.6_5'UTR|RGPD2_ENST00000420840.2_Intron	p.K5K			Q68DN6	RGPD1_HUMAN			1	237	-			0					P0C839|Q68DN6|Q6V1X0	Silent	SNP	ENST00000398146.3	37	c.15A>G	CCDS42710.2																																																																																				0.667	RGPD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330534.2	NM_001078170		4	32	0	0	0	0.184627	0	4	32					C	88125234	T	C	88125234	2	2	166	1	0	0	0	0	0	0	0	1	13286	1606	56	3		3	RGPD2	2	88125234	Silent	SNP	T	TCGA-E3-A3DZ-01A-11D-A20C-08		88125234	155074139	5	3493											
GCC2	9648	broad.mit.edu	37	chr2	109087511	109087511	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gagtatacttacttagtctcAgtcaaagagataccatgtta	7	7	2	1			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr2:109087511A>T	ENST00000309863.6	+	6	2440	c.1726A>T	c.(1726-1728)Agt>Tgt	p.S576C		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	576					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACTTAGTCTCAGTCAAAGAGA	0.289																																						ENST00000309863.6																			0				breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(1726-1728)Agt>Tgt		GRIP and coiled-coil domain containing 2							26	28	27					2																	109087511		2007	4191	6198	SO:0001583	missense	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109087511A>T	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"GRIP and coiled-coil domain-containing 2"			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.1726A>T	2.37:g.109087511A>T	ENSP00000307939:p.Ser576Cys						p.S576C	NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN			6	2440	+			576					A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.1726A>T	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	A	11.47	1.649241	0.29336	.	.	ENSG00000135968	ENST00000309863;ENST00000409896;ENST00000393318	T	0.34275	1.37	5.62	3.22	0.36961	.	0.542701	0.20920	N	0.083300	T	0.29817	0.0745	L	0.44542	1.39	0.09310	N	1	D	0.55800	0.973	B	0.43754	0.43	T	0.14364	-1.0475	10	0.59425	D	0.04	.	6.8432	0.23975	0.4111:0.4388:0.1501:0.0	.	576	Q8IWJ2	GCC2_HUMAN	C	576;539;321	ENSP00000307939:S576C	ENSP00000307939:S576C	S	+	1	0	GCC2	108453943	0.001000	0.12720	0.971000	0.41717	0.592000	0.36648	0.620000	0.24403	0.484000	0.27630	0.528000	0.53228	AGT		0.289	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		14	15	0	0	0	0.479597	0	14	15					T	109087511	A	T	109087511	3	4	166	1	0	0	0	0	1	0	0	0	6286	188	7	5	1748	5	GCC2	2	109087511	Missense_Mutation	SNP	A	TCGA-E3-A3DZ-01A-11D-A20C-08	20962277	109087511	134111862	6	3494											
AMBN	258	broad.mit.edu	37	chr4	71465351	71465351	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggatgaggccaagagaacaTgaaactcaacaggtgagtga	13	6	1	5			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr4:71465351T>A	ENST00000322937.6	+	5	385	c.282T>A	c.(280-282)caT>caA	p.H94Q	AMBN_ENST00000449493.2_Missense_Mutation_p.H94Q	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	94					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			CAAGAGAACATGAAACTCAAC	0.383																																						ENST00000322937.6																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29						c.(280-282)caT>caA		ameloblastin (enamel matrix protein)							84	81	82					4																	71465351		2203	4300	6503	SO:0001583	missense	258				bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	g.chr4:71465351T>A	AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"ameloblastin, enamel matrix protein"			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.282T>A	4.37:g.71465351T>A	ENSP00000313809:p.His94Gln					AMBN_ENST00000449493.2_Missense_Mutation_p.H94Q	p.H94Q	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	Lung(101;0.235)		5	385	+			94					Q3B862|Q9H2X1|Q9H4L1	Missense_Mutation	SNP	ENST00000322937.6	37	c.282T>A	CCDS3543.1	.	.	.	.	.	.	.	.	.	.	T	16.99	3.272791	0.59649	.	.	ENSG00000178522	ENST00000322937;ENST00000538728;ENST00000449493	T;T	0.40225	1.04;1.04	5.72	-3.32	0.04973	.	0.372524	0.26079	N	0.026467	T	0.44350	0.1289	L	0.53249	1.67	0.31947	N	0.610116	D	0.89917	1.0	D	0.87578	0.998	T	0.49890	-0.8891	10	0.30078	T	0.28	-8.3376	1.047	0.01571	0.1361:0.2363:0.2806:0.347	.	94	Q9NP70	AMBN_HUMAN	Q	94	ENSP00000313809:H94Q;ENSP00000391234:H94Q	ENSP00000313809:H94Q	H	+	3	2	AMBN	71499940	0.968000	0.33430	0.988000	0.46212	0.655000	0.38815	-0.023000	0.12456	-0.405000	0.07599	0.482000	0.46254	CAT		0.383	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1	NM_016519		5	79	0	0	0	0.184627	0	5	79					A	71465351	T	A	71465351	3	1	166	1	0	0	0	0	1	0	0	0	563	1461	51	5	300	5	AMBN	4	71465351	Missense_Mutation	SNP	T	TCGA-E3-A3DZ-01A-11D-A20C-08		71465351	119688925	7	3495											
FAM13A	10144	broad.mit.edu	37	chr4	89702434	89702434	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtaccttttcgacttccTgagtattcaaaatacaatca	5	9	2	1			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr4:89702434T>A	ENST00000264344.5	-	11	1547	c.1340A>T	c.(1339-1341)cAg>cTg	p.Q447L	FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000508369.1_Missense_Mutation_p.Q121L|FAM13A_ENST00000395002.2_Missense_Mutation_p.Q121L|FAM13A_ENST00000503556.1_Missense_Mutation_p.Q107L|FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000513837.1_Missense_Mutation_p.Q93L	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	447					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						TTCGACTTCCTGAGTATTCAA	0.358																																						ENST00000264344.5																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						c.(1339-1341)cAg>cTg		family with sequence similarity 13, member A							100	100	100					4																	89702434		2203	4300	6503	SO:0001583	missense	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89702434T>A	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"Rho GTPase activating proteins"	19367	protein-coding gene	gene with protein product		613299	"family with sequence similarity 13, member A1"	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.1340A>T	4.37:g.89702434T>A	ENSP00000264344:p.Gln447Leu					FAM13A_ENST00000395002.2_Missense_Mutation_p.Q121L|FAM13A_ENST00000513837.1_Missense_Mutation_p.Q93L|FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000508369.1_Missense_Mutation_p.Q121L|FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000503556.1_Missense_Mutation_p.Q107L	p.Q447L	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN			11	1547	-			447					B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	ENST00000264344.5	37	c.1340A>T	CCDS34029.1	.	.	.	.	.	.	.	.	.	.	T	14.56	2.571962	0.45798	.	.	ENSG00000138640	ENST00000395002;ENST00000264344;ENST00000503556;ENST00000508369;ENST00000513837	T;T;T;T;T	0.63417	-0.04;-0.04;1.44;-0.04;1.45	5.23	2.78	0.32641	.	0.549798	0.20015	N	0.101027	T	0.48750	0.1517	L	0.50333	1.59	0.80722	D	1	B;B;B;B;B	0.28128	0.034;0.201;0.034;0.034;0.034	B;B;B;B;B	0.21708	0.036;0.023;0.036;0.036;0.036	T	0.24621	-1.0155	10	0.15066	T	0.55	.	8.0819	0.30750	0.0:0.0702:0.136:0.7938	.	93;447;121;107;121	O94988-6;O94988;O94988-3;O94988-5;O94988-1	.;FA13A_HUMAN;.;.;.	L	121;447;107;121;93	ENSP00000378450:Q121L;ENSP00000264344:Q447L;ENSP00000427189:Q107L;ENSP00000421562:Q121L;ENSP00000423252:Q93L	ENSP00000264344:Q447L	Q	-	2	0	FAM13A	89921457	1.000000	0.71417	0.253000	0.24343	0.356000	0.29392	2.829000	0.48128	0.440000	0.26502	0.528000	0.53228	CAG		0.358	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			38	78	0	0	0	0.819951	0	38	78					A	89702434	T	A	89702434	3	1	166	1	0	0	0	0	1	0	0	0	5452	1580	55	5	1787	5	FAM13A	4	89702434	Missense_Mutation	SNP	T	TCGA-E3-A3DZ-01A-11D-A20C-08	18237083	89702434	101451842	8	3496											
MARCH1	55016	broad.mit.edu	37	chr4	164506962	164506962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttgcagagctcacagcagCgtgtatctgagctctttatc	9	11	3	2			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr4:164506962C>T	ENST00000503008.1	-	6	1338	c.362G>A	c.(361-363)cGc>cAc	p.R121H	MARCH1_ENST00000274056.7_Missense_Mutation_p.R121H|MARCH1_ENST00000339875.5_Missense_Mutation_p.R104H|MARCH1_ENST00000514618.1_Missense_Mutation_p.R377H	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	121					antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CTCACAGCAGCGTGTATCTGA	0.527																																						ENST00000503008.1																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.(361-363)cGc>cAc		membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase							123	112	116					4																	164506962		2203	4300	6503	SO:0001583	missense	55016				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr4:164506962C>T	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	26077	protein-coding gene	gene with protein product		613331	"membrane-associated ring finger (C3HC4) 1"			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.362G>A	4.37:g.164506962C>T	ENSP00000427223:p.Arg121His					MARCH1_ENST00000274056.7_Missense_Mutation_p.R121H|MARCH1_ENST00000514618.1_Missense_Mutation_p.R377H|MARCH1_ENST00000339875.5_Missense_Mutation_p.R104H	p.R121H	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN			6	1338	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	121					D3DP29|Q9NWR0	Missense_Mutation	SNP	ENST00000503008.1	37	c.362G>A	CCDS54814.1	.	.	.	.	.	.	.	.	.	.	C	35	5.467604	0.96257	.	.	ENSG00000145416	ENST00000274056;ENST00000503008;ENST00000514618;ENST00000339875;ENST00000507270	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	5.57	5.57	0.84162	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-CH-type (2);	0.000000	0.64402	D	0.000002	T	0.61937	0.2387	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.75020	0.985;0.949	T	0.60239	-0.7302	10	0.51188	T	0.08	-52.0378	19.5557	0.95347	0.0:1.0:0.0:0.0	.	121;104	Q8TCQ1;Q8TCQ1-2	MARH1_HUMAN;.	H	121;121;377;104;121	ENSP00000274056:R121H;ENSP00000427223:R121H;ENSP00000421322:R377H;ENSP00000345676:R104H;ENSP00000426731:R121H	ENSP00000274056:R121H	R	-	2	0	MARCH1	164726412	1.000000	0.71417	0.995000	0.50966	0.922000	0.55478	7.818000	0.86416	2.628000	0.89032	0.585000	0.79938	CGC		0.527	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		40	118	0	0	0	0.859065	0	40	118					T	164506962	C	T	164506962	3	4	166	1	0	0	0	0	1	0	0	0	9298	768	27	1	519	1	MARCH1	4	164506962	Missense_Mutation	SNP	C	TCGA-E3-A3DZ-01A-11D-A20C-08	74804528	164506962	26647314	9	3497											
NSD1	64324	broad.mit.edu	37	chr5	176636938	176636938	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaggactagtgtgaaaaAgggccacatacaatttgaag	10	5	0	2			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr5:176636938A>G	ENST00000439151.2	+	5	1583	c.1538A>G	c.(1537-1539)aAg>aGg	p.K513R	NSD1_ENST00000347982.4_Missense_Mutation_p.K244R|NSD1_ENST00000361032.4_Missense_Mutation_p.K410R|NSD1_ENST00000354179.4_Missense_Mutation_p.K244R	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	513					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		AGTGTGAAAAAGGGCCACATA	0.423			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(1537-1539)aAg>aGg		nuclear receptor binding SET domain protein 1							62	69	67					5																	176636938		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176636938A>G	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.1538A>G	5.37:g.176636938A>G	ENSP00000395929:p.Lys513Arg	HNSCC(47;0.14)				NSD1_ENST00000354179.4_Missense_Mutation_p.K244R|NSD1_ENST00000361032.4_Missense_Mutation_p.K410R|NSD1_ENST00000347982.4_Missense_Mutation_p.K244R	p.K513R	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	1583	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	513					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.1538A>G	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	A	18.97	3.735030	0.69189	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.96459	-3.89;-3.93;-3.89;-4.02	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000002	D	0.96237	0.8773	L	0.29908	0.895	0.31828	N	0.625073	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.80764	0.994;0.994;0.985	D	0.95541	0.8612	9	.	.	.	.	14.0611	0.64800	1.0:0.0:0.0:0.0	.	244;410;513	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	R	244;244;513;244;410	ENSP00000346111:K244R;ENSP00000395929:K513R;ENSP00000343209:K244R;ENSP00000354310:K410R	.	K	+	2	0	NSD1	176569544	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.046000	0.71029	2.139000	0.66308	0.482000	0.46254	AAG		0.423	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		3	87	0	0	0	0.115264	0	3	87					G	176636938	A	G	176636938	3	3	166	1	0	0	0	0	1	0	0	0	10669	72	3	3	1552	3	NSD1	5	176636938	Missense_Mutation	SNP	A	TCGA-E3-A3DZ-01A-11D-A20C-08		176636938	4278322	10	3498											
PDLIM7	9260	broad.mit.edu	37	chr5	176919616	176919616	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctacccgcattctcgccatcGatgctcagcacccagtcacc	6	19	3	0			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr5:176919616G>A	ENST00000355841.2	-	3	225	c.159C>T	c.(157-159)atC>atT	p.I53I	PDLIM7_ENST00000359895.2_Silent_p.I53I|PDLIM7_ENST00000355572.2_Silent_p.I53I|PDLIM7_ENST00000356618.4_Silent_p.I53I|RP11-1334A24.6_ENST00000506025.1_RNA|PDLIM7_ENST00000393551.1_Silent_p.I53I	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)	53	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|receptor-mediated endocytosis (GO:0006898)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ruffle (GO:0001726)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	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)			TCTCGCCATCGATGCTCAGCA	0.652																																						ENST00000355841.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10						c.(157-159)atC>atT		PDZ and LIM domain 7 (enigma)							57	57	57					5																	176919616		2203	4300	6503	SO:0001819	synonymous_variant	9260				cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis	cytoplasm|focal adhesion	protein binding|zinc ion binding	g.chr5:176919616G>A	BC001093	CCDS4422.1, CCDS4423.1, CCDS4424.1	5q35.3	2008-02-05			ENSG00000196923	ENSG00000196923			22958	protein-coding gene	gene with protein product		605903				11874232	Standard	NM_005451		Approved	ENIGMA	uc003mhc.1	Q9NR12	OTTHUMG00000130853	ENST00000355841.2:c.159C>T	5.37:g.176919616G>A						PDLIM7_ENST00000359895.2_Silent_p.I53I|PDLIM7_ENST00000356618.4_Silent_p.I53I|PDLIM7_ENST00000355572.2_Silent_p.I53I|PDLIM7_ENST00000393551.1_Silent_p.I53I	p.I53I	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	225	-	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)	53			PDZ.		Q14250|Q5XG82|Q6NVZ5|Q96C91|Q9BXB8|Q9BXB9	Silent	SNP	ENST00000355841.2	37	c.159C>T	CCDS4422.1																																																																																				0.652	PDLIM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253423.1	NM_005451		4	141	0	0	0	0.217242	0	4	141					A	176919616	G	A	176919616	2	1	166	1	0	0	0	0	0	0	0	1	11684	1048	37	1		1	PDLIM7	5	176919616	Silent	SNP	G	TCGA-E3-A3DZ-01A-11D-A20C-08	282678	176919616	3995644	11	3499											
COBL	23242	broad.mit.edu	37	chr7	51092971	51092971	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggaatggctggtggggaCagaagaccaaggtcttctag	18	6	2	2			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr7:51092971C>T	ENST00000265136.7	-	12	3768	c.3603G>A	c.(3601-3603)ctG>ctA	p.L1201L	RP4-724E13.2_ENST00000582616.1_RNA|COBL_ENST00000395542.2_Silent_p.L1283L	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1201					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CTGGTGGGGACAGAAGACCAA	0.627																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(3847-3849)ctG>ctA		cordon-bleu WH2 repeat protein							23	26	25					7																	51092971		2203	4300	6503	SO:0001819	synonymous_variant	23242							g.chr7:51092971C>T	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"cordon-bleu homolog (mouse)"				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.3603G>A	7.37:g.51092971C>T						COBL_ENST00000265136.7_Silent_p.L1201L	p.L1283L			O75128	COBL_HUMAN			14	4033	-	Glioma(55;0.08)		1201					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP	ENST00000265136.7	37	c.3849G>A	CCDS34637.1																																																																																				0.627	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		25	48	0	0	0	0.779181	0	25	48					T	51092971	C	T	51092971	2	4	166	1	0	0	0	0	0	0	0	1	3653	465	17	2		2	COBL	7	51092971	Silent	SNP	C	TCGA-E3-A3DZ-01A-11D-A20C-08		51092971	108045692	12	3500											
DCAF13	25879	broad.mit.edu	37	chr8	104444914	104444914	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagatatgagaacaaatacaAtctgttggaaccctatggaa	8	6	1	2			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr8:104444914A>G	ENST00000297579.5	+	7	1463	c.1186A>G	c.(1186-1188)Atc>Gtc	p.I396V	DCAF13_ENST00000521999.1_3'UTR	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	244					protein ubiquitination (GO:0016567)|rRNA processing (GO:0006364)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						AACAAATACAATCTGTTGGAA	0.323																																						ENST00000297579.5																			0				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1186-1188)Atc>Gtc		DDB1 and CUL4 associated factor 13							81	89	86					8																	104444914		2203	4297	6500	SO:0001583	missense	25879				rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex		g.chr8:104444914A>G	AK074725	CCDS34934.1	8q22.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000164934	ENSG00000164934		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	24535	protein-coding gene	gene with protein product			"WD repeats and SOF1 domain containing"	WDSOF1		11042152	Standard	NM_015420		Approved	DKFZP564O0463, Gm83, HSPC064	uc003yln.3	Q9NV06	OTTHUMG00000164888	ENST00000297579.5:c.1186A>G	8.37:g.104444914A>G	ENSP00000297579:p.Ile396Val					DCAF13_ENST00000521999.1_3'UTR	p.I396V	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN			7	1463	+			244					Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Missense_Mutation	SNP	ENST00000297579.5	37	c.1186A>G	CCDS34934.1	.	.	.	.	.	.	.	.	.	.	A	12.55	1.970438	0.34754	.	.	ENSG00000164934	ENST00000297579	T	0.01295	5.04	5.45	4.25	0.50352	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.063310	0.64402	D	0.000006	T	0.01592	0.0051	L	0.35414	1.06	0.80722	D	1	B	0.12013	0.005	B	0.14578	0.011	T	0.58538	-0.7619	10	0.41790	T	0.15	-18.6581	10.7679	0.46305	0.6121:0.3879:0.0:0.0	.	244	Q9NV06	DCA13_HUMAN	V	396	ENSP00000297579:I396V	ENSP00000297579:I396V	I	+	1	0	DCAF13	104514090	0.982000	0.34865	1.000000	0.80357	0.984000	0.73092	0.798000	0.27014	2.189000	0.69895	0.460000	0.39030	ATC		0.323	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380797.2	NM_015420		27	34	0	0	0	0.804634	0	27	34					G	104444914	A	G	104444914	3	3	166	1	0	0	0	0	1	0	0	0	4266	101	4	3	1212	3	DCAF13	8	104444914	Missense_Mutation	SNP	A	TCGA-E3-A3DZ-01A-11D-A20C-08		104444914	41919108	13	3501											
PALM2	114299	broad.mit.edu	37	chr9	112705375	112705375	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccccagcgctgcagggccGgaggcaaacttggatcagcc	14	15	1	0			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr9:112705375G>A	ENST00000374531.2	+	7	884	c.810G>A	c.(808-810)ccG>ccA	p.P270P	PALM2_ENST00000483909.1_Silent_p.P268P|AKAP2_ENST00000510514.5_Intron|PALM2_ENST00000314527.4_Silent_p.P302P|PALM2-AKAP2_ENST00000302798.7_Intron|PALM2-AKAP2_ENST00000374530.3_Intron|AKAP2_ENST00000555236.1_Intron|PALM2_ENST00000448454.2_Silent_p.P304P	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2	270					regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						CTGCAGGGCCGGAGGCAAACT	0.502																																						ENST00000448454.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						c.(910-912)ccG>ccA		paralemmin 2							74	75	75					9																	112705375		2203	4300	6503	SO:0001819	synonymous_variant	114299							g.chr9:112705375G>A	AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.810G>A	9.37:g.112705375G>A						PALM2_ENST00000374531.2_Silent_p.P270P|AKAP2_ENST00000555236.1_Intron|PALM2-AKAP2_ENST00000302798.7_Intron|AKAP2_ENST00000510514.5_Intron|PALM2_ENST00000483909.1_Silent_p.P268P|PALM2-AKAP2_ENST00000374530.3_Intron|PALM2_ENST00000314527.4_Silent_p.P302P	p.P304P							8	912	+								A9Z1X9|Q8N9D5|Q96DU1	Silent	SNP	ENST00000374531.2	37	c.912G>A	CCDS35099.1																																																																																				0.502	PALM2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053604.1	NM_001037293		3	58	0	0	0	0.115264	0	3	58					A	112705375	G	A	112705375	2	1	166	1	0	0	0	0	0	0	0	1	11409	1103	39	1		1	PALM2	9	112705375	Silent	SNP	G	TCGA-E3-A3DZ-01A-11D-A20C-08		112705375	28508056	14	3502											
YME1L1	10730	broad.mit.edu	37	chr10	27420862	27420862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaagccctgttgttgtccGgaagcggactaaagggaaga	13	8	1	1	rs199774208		TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr10:27420862G>A	ENST00000326799.3	-	9	1103	c.955C>T	c.(955-957)Cgg>Tgg	p.R319W	YME1L1_ENST00000463270.1_5'UTR|YME1L1_ENST00000375972.3_Missense_Mutation_p.R229W|YME1L1_ENST00000376016.3_Missense_Mutation_p.R262W	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	319					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						GTTGTTGTCCGGAAGCGGACT	0.368																																						ENST00000326799.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(955-957)Cgg>Tgg		YME1-like 1 ATPase							108	104	105					10																	27420862		2203	4300	6503	SO:0001583	missense	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27420862G>A	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"ATPases / AAA-type"	12843	protein-coding gene	gene with protein product		607472	"YME1 (S.cerevisiae)-like 1", "YME1-like 1 (S. cerevisiae)"			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.955C>T	10.37:g.27420862G>A	ENSP00000318480:p.Arg319Trp					YME1L1_ENST00000463270.1_5'UTR|YME1L1_ENST00000375972.3_Missense_Mutation_p.R229W|YME1L1_ENST00000376016.3_Missense_Mutation_p.R262W	p.R319W	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN			9	1103	-			319					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Missense_Mutation	SNP	ENST00000326799.3	37	c.955C>T	CCDS7152.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.239288	0.58995	.	.	ENSG00000136758	ENST00000376016;ENST00000326799;ENST00000375969;ENST00000375972;ENST00000546122;ENST00000427324	D;D;D	0.93763	-3.26;-3.28;-3.21	5.49	5.49	0.81192	Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	D	0.95971	0.8688	M	0.74467	2.265	0.80722	D	1	P;D;B	0.89917	0.635;1.0;0.087	B;D;B	0.67103	0.049;0.949;0.039	D	0.95964	0.8964	10	0.87932	D	0	-4.4474	13.8619	0.63566	0.0:0.0:0.7325:0.2675	.	229;262;319	B4DNM1;Q96TA2-2;Q96TA2	.;.;YMEL1_HUMAN	W	262;319;319;229;65;229	ENSP00000365184:R262W;ENSP00000318480:R319W;ENSP00000365139:R229W	ENSP00000318480:R319W	R	-	1	2	YME1L1	27460868	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.406000	0.59748	2.744000	0.94065	0.650000	0.86243	CGG		0.368	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		3	85	0	0	0	0.150653	0	3	85					A	27420862	G	A	27420862	3	1	166	1	0	0	0	0	1	0	0	0	17484	1115	39	1	1414	1	YME1L1	10	27420862	Missense_Mutation	SNP	G	TCGA-E3-A3DZ-01A-11D-A20C-08		27420862	108113885	15	3503											
ZNF33B	7582	broad.mit.edu	37	chr10	43089114	43089114	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgtgttctctgatgtttagtGaggtcagatttctggtaaaa	11	4	3	3			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr10:43089114G>A	ENST00000359467.3	-	5	1398	c.1284C>T	c.(1282-1284)ctC>ctT	p.L428L	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	428					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						GATGTTTAGTGAGGTCAGATT	0.418																																					Melanoma(137;1247 1767 16772 25727 43810)	ENST00000359467.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						c.(1282-1284)ctC>ctT		zinc finger protein 33B							108	108	108					10																	43089114		2203	4300	6503	SO:0001819	synonymous_variant	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43089114G>A	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"Zinc fingers, C2H2-type", "-"	13097	protein-coding gene	gene with protein product		194522	"zinc finger protein 33b (KOX 31)", "zinc finger protein 11B"	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.1284C>T	10.37:g.43089114G>A						ZNF33B_ENST00000486187.1_RNA	p.L428L	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN			5	1398	-			428					Q06731|Q32MA2|Q86XY8|Q8NDW3	Silent	SNP	ENST00000359467.3	37	c.1284C>T	CCDS7198.1																																																																																				0.418	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		65	96	0	0	0	0.870114	0	65	96					A	43089114	G	A	43089114	2	1	166	1	0	0	0	0	0	0	0	1	17852	1277	45	2		2	ZNF33B	10	43089114	Silent	SNP	G	TCGA-E3-A3DZ-01A-11D-A20C-08	15668252	43089114	92445633	16	3504											
HRAS	3265	broad.mit.edu	37	chr11	533875	533875	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catggcgctgtactcctcctGgccggcggtatccaggatgt	13	13	0	0	rs28933406		TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr11:533875G>T	ENST00000451590.1	-	3	368	c.181C>A	c.(181-183)Cag>Aag	p.Q61K	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61K|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61K|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61K|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61K	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61K(61)|p.Q61R(1)|p.Q61E(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TACTCCTCCTGGCCGGCGGTA	0.597		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		63	Substitution - Missense(63)	p.Q61K(61)|p.Q61R(1)|p.Q61E(1)	thyroid(23)|skin(18)|urinary_tract(8)|upper_aerodigestive_tract(4)|soft_tissue(4)|testis(2)|lung(2)|cervix(1)|kidney(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)Cag>Aag		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117	102	107					11																	533875		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533875G>T	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.181C>A	11.37:g.533875G>T	ENSP00000407586:p.Gln61Lys	HNSCC(11;0.0054)				HRAS_ENST00000311189.7_Missense_Mutation_p.Q61K|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61K|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61K|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61K	p.Q61K	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	368	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.181C>A	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855718	0.51376	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88644	0.6492	H	0.96604	3.85	0.80722	D	1	B;B	0.19073	0.033;0.012	B;B	0.19391	0.015;0.025	D	0.89618	0.3846	10	0.62326	D	0.03	.	14.8426	0.70237	0.0:0.0:1.0:0.0	rs28933406	61;61	P01112-2;P01112	.;RASH_HUMAN	K	61	ENSP00000380722:Q61K;ENSP00000380723:Q61K;ENSP00000407586:Q61K;ENSP00000388246:Q61K;ENSP00000309845:Q61K	ENSP00000309845:Q61K	Q	-	1	0	HRAS	523875	1.000000	0.71417	0.987000	0.45799	0.459000	0.32528	9.476000	0.97823	2.045000	0.60652	0.561000	0.74099	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		73	118	1	0	9.24773e-40	0.870114	1.09513e-39	73	118					T	533875	G	T	533875	3	4	166	1	0	0	0	0	1	0	0	0	7348	1357	47	4	467	4	HRAS	11	533875	Missense_Mutation	SNP	G	TCGA-E3-A3DZ-01A-11D-A20C-08		533875	134472641	17	3505											
KLHL35	283212	broad.mit.edu	37	chr11	75134897	75134897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgaccgcaggctccaccGgtcctccttggggtcaaagc	13	14	1	1	rs373616347		TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr11:75134897G>A	ENST00000539798.1	-	5	1401	c.1402C>T	c.(1402-1404)Cgg>Tgg	p.R468W	KLHL35_ENST00000376292.4_Missense_Mutation_p.R248W	NM_001039548.2	NP_001034637.2	Q6PF15	KLH35_HUMAN	kelch-like family member 35	468										lung(2)|stomach(1)	3						AGGCTCCACCGGTCCTCCTTG	0.612																																					Colon(77;683 1691 18820 23811)	ENST00000539798.1																			0				lung(2)|stomach(1)	3						c.(1402-1404)Cgg>Tgg		kelch-like family member 35		G	TRP/ARG	1,4059		0,1,2029	42	49	46		1402	3.0	0.9	11		46	0,8382		0,0,4191	no	missense	KLHL35	NM_001039548.2	101	0,1,6220	AA,AG,GG		0.0,0.0246,0.0080	possibly-damaging	468/584	75134897	1,12441	2030	4191	6221	SO:0001583	missense	283212							g.chr11:75134897G>A		CCDS44685.1, CCDS44685.2	11q13.4	2013-02-22	2013-02-22		ENSG00000149243	ENSG00000149243		"Kelch-like", "BTB/POZ domain containing"	26597	protein-coding gene	gene with protein product			"kelch-like 35 (Drosophila)"				Standard	NM_001039548		Approved	FLJ33790	uc001owm.2	Q6PF15	OTTHUMG00000133573	ENST00000539798.1:c.1402C>T	11.37:g.75134897G>A	ENSP00000438526:p.Arg468Trp					KLHL35_ENST00000376292.4_Missense_Mutation_p.R248W	p.R468W	NM_001039548.2	NP_001034637.2	Q6PF15	KLH35_HUMAN			5	1401	-			248					A2RU06|F5H412|Q86XM7|Q8NBB1	Missense_Mutation	SNP	ENST00000539798.1	37	c.1402C>T	CCDS44685.2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979734	0.74360	2.46E-4	0.0	ENSG00000149243	ENST00000376292;ENST00000539798	T;T	0.78481	-1.18;-1.18	5.05	3.0	0.34707	Kelch-type beta propeller (1);	1.363190	0.04929	N	0.456394	D	0.84088	0.5395	M	0.73430	2.235	0.25828	N	0.984205	P	0.50066	0.931	P	0.51453	0.67	T	0.69269	-0.5189	10	0.87932	D	0	.	10.376	0.44081	0.0:0.0:0.5192:0.4808	.	248	Q6PF15	KLH35_HUMAN	W	248;468	ENSP00000365469:R248W;ENSP00000438526:R468W	ENSP00000365469:R248W	R	-	1	2	KLHL35	74812545	0.801000	0.28930	0.931000	0.37212	0.953000	0.61014	1.136000	0.31467	1.328000	0.45358	0.603000	0.83216	CGG		0.612	KLHL35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173583		3	28	0	0	0	0.115264	0	3	28					A	75134897	G	A	75134897	3	1	166	1	0	0	0	0	1	0	0	0	8388	1115	39	1	357	1	KLHL35	11	75134897	Missense_Mutation	SNP	G	TCGA-E3-A3DZ-01A-11D-A20C-08	74601022	75134897	59871619	18	3506											
FAM76B	143684	broad.mit.edu	37	chr11	95522617	95522617	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aacgctgggtacacttggtgCaggcgtacagggccgaggcc	16	11	0	0			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr11:95522617C>G	ENST00000358780.5	-	1	338	c.26G>C	c.(25-27)tGc>tCc	p.C9S	CEP57_ENST00000325486.5_5'Flank|FAM76B_ENST00000538047.1_5'Flank|FAM76B_ENST00000536839.1_Missense_Mutation_p.C9S|CEP57_ENST00000538658.1_5'Flank|CEP57_ENST00000325542.5_5'Flank|CEP57_ENST00000537677.1_5'Flank	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN	family with sequence similarity 76, member B	9						nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(1)|kidney(1)|lung(1)	3		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACACTTGGTGCAGGCGTACAG	0.711																																						ENST00000358780.5																			0				breast(1)|kidney(1)|lung(1)	3						c.(25-27)tGc>tCc		family with sequence similarity 76, member B							21	30	27					11																	95522617		1964	4175	6139	SO:0001583	missense	143684							g.chr11:95522617C>G		CCDS41700.1	11q21	2008-02-05			ENSG00000077458	ENSG00000077458			28492	protein-coding gene	gene with protein product						12477932	Standard	NM_144664		Approved	MGC33371	uc001pfn.2	Q5HYJ3	OTTHUMG00000167739	ENST00000358780.5:c.26G>C	11.37:g.95522617C>G	ENSP00000351631:p.Cys9Ser					FAM76B_ENST00000536839.1_Missense_Mutation_p.C9S	p.C9S	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN			1	338	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	9					Q6PIU3|Q8TC53	Missense_Mutation	SNP	ENST00000358780.5	37	c.26G>C	CCDS41700.1	.	.	.	.	.	.	.	.	.	.	C	31	5.102929	0.94245	.	.	ENSG00000077458	ENST00000358780;ENST00000536839	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.79137	0.4395	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82024	-0.0662	9	0.87932	D	0	-0.2189	18.1911	0.89807	0.0:1.0:0.0:0.0	.	9	Q5HYJ3	FA76B_HUMAN	S	9	.	ENSP00000351631:C9S	C	-	2	0	FAM76B	95162265	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.309000	0.78937	2.294000	0.77228	0.561000	0.74099	TGC		0.711	FAM76B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395969.1	NM_144664		5	24	0	0	0	0.248553	0	5	24					G	95522617	C	G	95522617	3	3	166	1	0	0	0	0	1	0	0	0	5625	710	25	4	1033	4	FAM76B	11	95522617	Missense_Mutation	SNP	C	TCGA-E3-A3DZ-01A-11D-A20C-08	20387720	95522617	39483899	19	3507											
TRHDE	29953	broad.mit.edu	37	chr12	72667128	72667128	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcttcccgagtggcggtggaGaaagtgcagctggccgagga	18	9	0	1			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr12:72667128G>A	ENST00000261180.4	+	1	666	c.570G>A	c.(568-570)gaG>gaA	p.E190E	TRHDE-AS1_ENST00000550334.1_RNA|TRHDE-AS1_ENST00000435350.1_RNA|TRHDE-AS1_ENST00000426250.3_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	190					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TGGCGGTGGAGAAAGTGCAGC	0.612																																						ENST00000261180.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(568-570)gaG>gaA		thyrotropin-releasing hormone degrading enzyme							45	49	48					12																	72667128		2203	4300	6503	SO:0001819	synonymous_variant	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72667128G>A	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.570G>A	12.37:g.72667128G>A						TRHDE-AS1_ENST00000426250.3_RNA	p.E190E	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			1	666	+			190					A5PL19|Q6UWJ4	Silent	SNP	ENST00000261180.4	37	c.570G>A	CCDS9004.1																																																																																				0.612	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		4	105	0	0	0	0.184627	0	4	105					A	72667128	G	A	72667128	2	1	166	1	0	0	0	0	0	0	0	1	16476	933	33	2		2	TRHDE	12	72667128	Silent	SNP	G	TCGA-E3-A3DZ-01A-11D-A20C-08		72667128	61184767	20	3508											
ZNF839	55778	broad.mit.edu	37	chr14	102807889	102807890	+	Frame_Shift_Del	DEL	GG	GG	-													aggaggctgacccaggcacaGgtggcagcgtttcctggaga					rs567097366		TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr14:102807889_102807890delGG	ENST00000558850.1	+	8	2159_2160	c.1809_1810delGG	c.(1807-1812)caggtgfs	p.QV603fs	ZNF839_ENST00000442396.2_Frame_Shift_Del_p.QV719fs|ZNF839_ENST00000559185.1_Frame_Shift_Del_p.QV603fs|ZNF839_ENST00000262236.5_Frame_Shift_Del_p.QV605fs|AL137229.1_ENST00000577622.1_RNA|ZNF839_ENST00000420933.2_3'UTR	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	603							metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CCCAGGCACAGGTGGCAGCGTT	0.589																																						ENST00000262236.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1813-1818)catgfs		zinc finger protein 839																																				SO:0001589	frameshift_variant	55778					intracellular	zinc ion binding	g.chr14:102807889_102807890delGG	AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 131"	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.1809_1810delGG	14.37:g.102807889_102807890delGG	ENSP00000453363:p.Gln603fs					ZNF839_ENST00000442396.2_Frame_Shift_Del_p.QV719fs|ZNF839_ENST00000420933.2_3'UTR|ZNF839_ENST00000559185.1_Frame_Shift_Del_p.QV603fs|ZNF839_ENST00000558850.1_Frame_Shift_Del_p.QV603fs	p.QV605fs	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN			8	2170_2171	+			603					B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Frame_Shift_Del	DEL	ENST00000558850.1	37	c.1815_1816delGG	CCDS58336.1																																																																																				0.589	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335		7	11						7	11	---	---	---	---	-	102807890	GG	-	102807889	7	5	166	1	0	1	0	1	0	0	0	0	18185	991	35	0	2187	0	ZNF839	14	102807889	Frame_Shift_Del	DEL	GG	TCGA-E3-A3DZ-01A-11D-A20C-08		102807889	4541651	21	3509											
AKT1	207	broad.mit.edu	37	chr14	105242100	105242100	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcctgcttcttgaggccGtcagccacagtctggatggc	11	14	3	1			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr14:105242100G>A	ENST00000554581.1	-	4	1804	c.324C>T	c.(322-324)gaC>gaT	p.D108D	AKT1_ENST00000349310.3_Silent_p.D108D|AKT1_ENST00000407796.2_Silent_p.D108D|AKT1_ENST00000402615.2_Silent_p.D108D|AKT1_ENST00000554848.1_Silent_p.D108D|AKT1_ENST00000555528.1_Silent_p.D108D|AKT1_ENST00000544168.1_Silent_p.D46D|AKT1_ENST00000555458.1_5'Flank|AKT1_ENST00000554585.1_5'Flank|AKT1_ENST00000554192.1_5'Flank			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	108	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TCTTGAGGCCGTCAGCCACAG	0.617		1	Mis		"breast, colorectal, ovarian, NSCLC"																																	ENST00000554581.1		1		Dom	yes		14	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1			E			"breast, colorectal, ovarian, NSCLC"		0				NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176						c.(322-324)gaC>gaT		v-akt murine thymoma viral oncogene homolog 1	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)						118	78	92					14																	105242100		2203	4300	6503	SO:0001819	synonymous_variant	207				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	g.chr14:105242100G>A	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"Pleckstrin homology (PH) domain containing"	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.324C>T	14.37:g.105242100G>A						AKT1_ENST00000544168.1_Silent_p.D46D|AKT1_ENST00000554848.1_Silent_p.D108D|AKT1_ENST00000402615.2_Silent_p.D108D|AKT1_ENST00000349310.3_Silent_p.D108D|AKT1_ENST00000555528.1_Silent_p.D108D|AKT1_ENST00000407796.2_Silent_p.D108D	p.D108D			P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	4	1804	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	108			PH.		B2RAM5|B7Z5R1|Q9BWB6	Silent	SNP	ENST00000554581.1	37	c.324C>T	CCDS9994.1																																																																																				0.617	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163		4	117	0	0	0	0.248553	0	4	117					A	105242100	G	A	105242100	2	1	166	1	0	0	0	0	0	0	0	1	478	1136	40	1		1	AKT1	14	105242100	Silent	SNP	G	TCGA-E3-A3DZ-01A-11D-A20C-08	2434211	105242100	2107440	22	3510											
TMEM62	80021	broad.mit.edu	37	chr15	43446993	43446995	+	In_Frame_Del	DEL	CAG	CAG	-													aagtggaatcctagaaactaCagtagtgggacacataacat							TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr15:43446993_43446995delCAG	ENST00000260403.2	+	9	1425_1427	c.1146_1148delCAG	c.(1144-1149)tacagt>tat	p.S384del		NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	384						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		CTAGAAACTACAGTAGTGGGACA	0.379																																						ENST00000260403.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1144-1149)tat>ta		transmembrane protein 62																																				SO:0001651	inframe_deletion	80021					integral to membrane		g.chr15:43446993_43446995delCAG	BC009981	CCDS32210.1	15q15.2	2014-09-11			ENSG00000137842	ENSG00000137842			26269	protein-coding gene	gene with protein product							Standard	NM_024956		Approved	FLJ23375	uc001zqr.3	Q0P6H9	OTTHUMG00000176485	ENST00000260403.2:c.1146_1148delCAG	15.37:g.43446993_43446995delCAG	ENSP00000260403:p.Ser384del						p.YS382del	NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN		GBM - Glioblastoma multiforme(94;4.23e-07)	9	1425_1427	+		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)	382					Q6I9Y5|Q9H5J6	In_Frame_Del	DEL	ENST00000260403.2	37	c.1146_1148delCAG	CCDS32210.1																																																																																				0.379	TMEM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432227.1	NM_024956		15	29						15	29	---	---	---	---	-	43446995	CAG	-	43446993	7	5	166	1	0	1	0	1	0	0	0	0	16186	489	17	0	1180	0	TMEM62	15	43446993	In_Frame_Del	DEL	CAG	TCGA-E3-A3DZ-01A-11D-A20C-08		43446993	59084399	23	3511											
HERC1	8925	broad.mit.edu	37	chr15	63901361	63901361	+	Frame_Shift_Del	DEL	G	G	-													atgtcgattgagcggcagttGttgatggcatagcgcaggcg							TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr15:63901361delG	ENST00000443617.2	-	78	14592	c.14505delC	c.(14503-14505)aacfs	p.N4836fs		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4836	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AGCGGCAGTTGTTGATGGCAT	0.602																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(14503-14505)aafs		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							68	74	72					15																	63901361		2133	4226	6359	SO:0001589	frameshift_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63901361delG	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.14505delC	15.37:g.63901361delG	ENSP00000390158:p.Asn4836fs						p.N4836fs	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			78	14592	-			4836			HECT.		Q8IW65	Frame_Shift_Del	DEL	ENST00000443617.2	37	c.14505delC	CCDS45277.1																																																																																				0.602	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		20	24						20	24	---	---	---	---	-	63901361	G	-	63901361	7	5	166	1	0	1	0	1	0	0	0	0	7057	1368	48	0	84	0	HERC1	15	63901361	Frame_Shift_Del	DEL	G	TCGA-E3-A3DZ-01A-11D-A20C-08	20454368	63901361	38630031	24	3512											
CREB3L3	84699	broad.mit.edu	37	chr19	4157169	4157169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccagccacctcccccgccGgctgccatcctgcccagcct	8	23	0	0	rs145839480	byFrequency	TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr19:4157169G>A	ENST00000078445.2	+	3	481	c.334G>A	c.(334-336)Ggc>Agc	p.G112S	CREB3L3_ENST00000595923.1_Missense_Mutation_p.G111S|CREB3L3_ENST00000602147.1_Missense_Mutation_p.G112S|CREB3L3_ENST00000602257.1_Missense_Mutation_p.G112S|CREB3L3_ENST00000252587.3_Missense_Mutation_p.G102S	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	112					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	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)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCCCCGCCGGCTGCCATCC	0.657													G|||	5	0.000998403	0.0038	0	5008	,	,		14040	0		0	False		,,,				2504	0					ENST00000078445.2																			0				breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24						c.(334-336)Ggc>Agc		cAMP responsive element binding protein 3-like 3		G	SER/GLY	46,4360	49.6+/-84.7	0,46,2157	54	56	55		334	-2.5	0.0	19	dbSNP_134	55	0,8600		0,0,4300	yes	missense	CREB3L3	NM_032607.1	56	0,46,6457	AA,AG,GG		0.0,1.044,0.3537	benign	112/462	4157169	46,12960	2203	4300	6503	SO:0001583	missense	84699				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:4157169G>A		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"basic leucine zipper proteins"	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.334G>A	19.37:g.4157169G>A	ENSP00000078445:p.Gly112Ser					CREB3L3_ENST00000602257.1_Missense_Mutation_p.G112S|CREB3L3_ENST00000602147.1_Missense_Mutation_p.G112S|CREB3L3_ENST00000595923.1_Missense_Mutation_p.G111S|CREB3L3_ENST00000252587.3_Missense_Mutation_p.G102S	p.G112S	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	3	481	+			112					B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	ENST00000078445.2	37	c.334G>A	CCDS12121.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	6.388	0.439782	0.12104	0.01044	0.0	ENSG00000060566	ENST00000078445;ENST00000381943;ENST00000252587	D;D	0.85773	-2.03;-2.03	4.87	-2.5	0.06384	.	0.490824	0.22419	N	0.060311	T	0.59918	0.2229	L	0.33485	1.01	0.09310	N	1	B;B;B;B	0.32350	0.366;0.326;0.265;0.173	B;B;B;B	0.21708	0.036;0.022;0.03;0.013	T	0.57808	-0.7747	10	0.08599	T	0.76	-19.8742	8.6355	0.33945	0.5578:0.0:0.4422:0.0	.	112;112;111;112	Q68CJ9-3;B7ZL69;Q68CJ9-2;Q68CJ9	.;.;.;CR3L3_HUMAN	S	112;112;102	ENSP00000078445:G112S;ENSP00000252587:G102S	ENSP00000078445:G112S	G	+	1	0	CREB3L3	4108169	0.000000	0.05858	0.009000	0.14445	0.010000	0.07245	-0.738000	0.04871	-0.381000	0.07882	0.430000	0.28490	GGC		0.657	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607		6	124	0	0	0	0.248553	0	6	124					A	4157169	G	A	4157169	3	1	166	1	0	0	0	0	1	0	0	0	3858	1116	39	1	344	1	CREB3L3	19	4157169	Missense_Mutation	SNP	G	TCGA-E3-A3DZ-01A-11D-A20C-08		4157169	54971814	25	3513											
DNMT1	1786	broad.mit.edu	37	chr19	10249155	10249155	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcttgtcatccaccaccaCgctcagctggcaggcccggg	10	17	3	0			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr19:10249155C>T	ENST00000340748.4	-	34	4262	c.4027G>A	c.(4027-4029)Gtg>Atg	p.V1343M	DNMT1_ENST00000589538.1_5'Flank|DNMT1_ENST00000359526.4_Missense_Mutation_p.V1359M|DNMT1_ENST00000540357.1_Missense_Mutation_p.V1343M			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1343	Catalytic.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.|SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	TCCACCACCACGCTCAGCTGG	0.642																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(4027-4029)Gtg>Atg		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						83	73	77					19																	10249155		2203	4300	6503	SO:0001583	missense	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10249155C>T	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.4027G>A	19.37:g.10249155C>T	ENSP00000345739:p.Val1343Met					DNMT1_ENST00000540357.1_Missense_Mutation_p.V1343M|DNMT1_ENST00000359526.4_Missense_Mutation_p.V1359M	p.V1343M			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		34	4262	-			1343			Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	c.4027G>A	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934194	0.92458	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	D;D;D	0.85171	-1.95;-1.95;-1.95	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.92773	0.7702	M	0.80028	2.48	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.996;0.998	D	0.93102	0.6509	10	0.62326	D	0.03	.	18.2551	0.90017	0.0:1.0:0.0:0.0	.	1343;1359;1343	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	M	1359;1343;1343;1211	ENSP00000352516:V1359M;ENSP00000440457:V1343M;ENSP00000345739:V1343M	ENSP00000345739:V1343M	V	-	1	0	DNMT1	10110155	0.997000	0.39634	0.970000	0.41538	0.818000	0.46254	5.716000	0.68437	2.607000	0.88179	0.655000	0.94253	GTG		0.642	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		5	175	0	0	0	0.217242	0	5	175					T	10249155	C	T	10249155	3	4	166	1	0	0	0	0	1	0	0	0	4675	536	19	1	851	1	DNMT1	19	10249155	Missense_Mutation	SNP	C	TCGA-E3-A3DZ-01A-11D-A20C-08	6091986	10249155	48879828	26	3514											
ZNF507	22847	broad.mit.edu	37	chr19	32844893	32844893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagcacagaaaatcatcaGcagcagccccaataaaaaag	6	11	3	1			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr19:32844893G>A	ENST00000311921.4	+	2	1349	c.1157G>A	c.(1156-1158)aGc>aAc	p.S386N	ZNF507_ENST00000544431.1_Missense_Mutation_p.S386N|ZNF507_ENST00000355898.5_Missense_Mutation_p.S386N	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	386					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(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					AAAATCATCAGCAGCAGCCCC	0.458																																						ENST00000311921.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31						c.(1156-1158)aGc>aAc		zinc finger protein 507							56	55	55					19																	32844893		2203	4300	6503	SO:0001583	missense	22847				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:32844893G>A	AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"Zinc fingers, C2H2-type"	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.1157G>A	19.37:g.32844893G>A	ENSP00000312277:p.Ser386Asn					ZNF507_ENST00000355898.5_Missense_Mutation_p.S386N|ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000544431.1_Missense_Mutation_p.S386N	p.S386N	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN			2	1349	+	Esophageal squamous(110;0.162)		386					A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Missense_Mutation	SNP	ENST00000311921.4	37	c.1157G>A	CCDS32985.1	.	.	.	.	.	.	.	.	.	.	G	0.156	-1.086407	0.01873	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	T;T;T	0.06294	3.63;3.63;3.32	5.73	3.26	0.37387	.	0.191053	0.64402	N	0.000003	T	0.04407	0.0121	N	0.17474	0.49	0.30175	N	0.800927	B;B	0.12013	0.003;0.005	B;B	0.16722	0.004;0.016	T	0.21245	-1.0251	10	0.21540	T	0.41	-11.4942	12.0498	0.53501	0.2319:0.0:0.7681:0.0	.	386;386	Q8TCN5;Q8TCN5-2	ZN507_HUMAN;.	N	386	ENSP00000348162:S386N;ENSP00000312277:S386N;ENSP00000441549:S386N	ENSP00000312277:S386N	S	+	2	0	ZNF507	37536733	1.000000	0.71417	0.986000	0.45419	0.189000	0.23516	1.580000	0.36547	1.409000	0.46915	0.655000	0.94253	AGC		0.458	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3	NM_014910		3	46	0	0	0	0.115264	0	3	46					A	32844893	G	A	32844893	3	1	166	1	0	0	0	0	1	0	0	0	17950	971	34	2	1159	2	ZNF507	19	32844893	Missense_Mutation	SNP	G	TCGA-E3-A3DZ-01A-11D-A20C-08	22595738	32844893	26284090	27	3515											
ZNF211	10520	broad.mit.edu	37	chr19	58153415	58153415	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgggaaatcctttagccaaAgttctagcctcattcaacac	7	11	3	0			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr19:58153415A>G	ENST00000347302.3	+	3	1740	c.1561A>G	c.(1561-1563)Agt>Ggt	p.S521G	ZNF211_ENST00000391703.3_Missense_Mutation_p.S460G|ZNF211_ENST00000544273.1_Missense_Mutation_p.S533G|ZNF211_ENST00000240731.4_Missense_Mutation_p.S534G|ZNF211_ENST00000420680.1_Missense_Mutation_p.S525G|ZNF211_ENST00000541801.1_Missense_Mutation_p.S512G|ZNF211_ENST00000299871.5_Missense_Mutation_p.S586G|ZNF211_ENST00000254182.7_Missense_Mutation_p.S512G	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	521					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(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTTTAGCCAAAGTTCTAGCCT	0.438																																						ENST00000544273.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1597-1599)Agt>Ggt		zinc finger protein 211							109	105	107					19																	58153415		2203	4300	6503	SO:0001583	missense	0					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58153415A>G	U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"Zinc fingers, C2H2-type", "-"	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.1561A>G	19.37:g.58153415A>G	ENSP00000339562:p.Ser521Gly					ZNF211_ENST00000391703.3_Missense_Mutation_p.S460G|ZNF211_ENST00000347302.3_Missense_Mutation_p.S521G|ZNF211_ENST00000420680.1_Missense_Mutation_p.S525G|ZNF211_ENST00000254182.7_Missense_Mutation_p.S512G|ZNF211_ENST00000240731.4_Missense_Mutation_p.S534G|ZNF211_ENST00000541801.1_Missense_Mutation_p.S512G|ZNF211_ENST00000299871.5_Missense_Mutation_p.S586G	p.S533G			Q13398	ZN211_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1924	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	521					B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	ENST00000347302.3	37	c.1597A>G	CCDS12957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	15.39|15.39	2.818872|2.818872	0.50633|0.50633	.|.	.|.	ENSG00000121417|ENSG00000121417	ENST00000407202|ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731	.|T;T;T;T;T;T;T;T	.|0.01192	.|5.2;5.2;5.2;5.2;5.2;5.2;5.2;5.2	3.23|3.23	0.979|0.979	0.19745|0.19745	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.01222|0.01222	0.0040|0.0040	L|L	0.56396|0.56396	1.775|1.775	0.09310|0.09310	N|N	1|1	.|B;B;P;B;B;B	.|0.44429	.|0.035;0.101;0.835;0.055;0.031;0.031	.|B;B;B;B;B;B	.|0.35813	.|0.01;0.068;0.211;0.02;0.017;0.017	T|T	0.49418|0.49418	-0.8942|-0.8942	5|9	.|0.24483	.|T	.|0.36	.|.	4.8642|4.8642	0.13600|0.13600	0.526:0.3663:0.1077:0.0|0.526:0.3663:0.1077:0.0	.|.	.|525;533;586;512;521;534	.|Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1	.|.;.;.;.;ZN211_HUMAN;.	R|G	524|525;521;512;460;512;586;533;534	.|ENSP00000399193:S525G;ENSP00000339562:S521G;ENSP00000254182:S512G;ENSP00000375584:S460G;ENSP00000442601:S512G;ENSP00000299871:S586G;ENSP00000441386:S533G;ENSP00000240731:S534G	.|ENSP00000240731:S534G	K|S	+|+	2|1	0|0	ZNF211|ZNF211	62845227|62845227	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.950000|0.950000	0.60333|0.60333	-0.310000|-0.310000	0.08135|0.08135	0.016000|0.016000	0.14998|0.14998	0.477000|0.477000	0.44152|0.44152	AAG|AGT		0.438	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1			6	156	0	0	0	0.248553	0	6	156					G	58153415	A	G	58153415	3	3	166	1	0	0	0	0	1	0	0	0	17764	72	3	3	1614	3	ZNF211	19	58153415	Missense_Mutation	SNP	A	TCGA-E3-A3DZ-01A-11D-A20C-08	25308522	58153415	975568	28	3516											
MAGEB6	158809	broad.mit.edu	37	chrX	26212431	26212431	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagcttcacccactggctcGcctgatgcaggtgtttcagg	13	12	2	1			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chrX:26212431G>T	ENST00000379034.1	+	2	617	c.468G>T	c.(466-468)tcG>tcT	p.S156S		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	156	Ser-rich.							p.S156S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CCACTGGCTCGCCTGATGCAG	0.507																																						ENST00000379034.1																			1	Substitution - coding silent(1)	p.S156S(1)	lung(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(466-468)tcG>tcT		melanoma antigen family B, 6							56	52	53					X																	26212431		2202	4300	6502	SO:0001819	synonymous_variant	158809							g.chrX:26212431G>T	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.468G>T	X.37:g.26212431G>T							p.S156S	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	617	+			156			Ser-rich.		Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	c.468G>T	CCDS14217.1																																																																																				0.507	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		4	76	1	0	0.150653	0.150653	0.165351	4	76					T	26212431	G	T	26212431	2	4	166	1	0	0	0	0	0	0	0	1	9179	1074	38	4		4	MAGEB6	23	26212431	Silent	SNP	G	TCGA-E3-A3DZ-01A-11D-A20C-08		26212431	129058129	29	3517											
OTUD6A	139562	broad.mit.edu	37	chrX	69283005	69283005	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgatctactgcgacaacatcGtgcgcaccacggcatgggga	12	12	1	1			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chrX:69283005G>T	ENST00000338352.2	+	1	665	c.631G>T	c.(631-633)Gtg>Ttg	p.V211L		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU deubiquitinase 6A	211	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|Variable-loop. {ECO:0000250}.				protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)		ubiquitin-specific protease activity (GO:0004843)	p.V211M(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						CGACAACATCGTGCGCACCAC	0.612																																						ENST00000338352.2																			1	Substitution - Missense(1)	p.V211M(1)	endometrium(1)	autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						c.(631-633)Gtg>Ttg		OTU domain containing 6A							71	64	66					X																	69283005		2203	4300	6503	SO:0001583	missense	139562							g.chrX:69283005G>T	AK098697	CCDS14395.1	Xq13.1	2014-02-24	2014-02-24			ENSG00000189401		"OTU domain containing"	32312	protein-coding gene	gene with protein product		300714	"OTU domain containing 6A"			23827681	Standard	NM_207320		Approved	FLJ25831, HSHIN6, DUBA2	uc004dxu.1	Q7L8S5		ENST00000338352.2:c.631G>T	X.37:g.69283005G>T	ENSP00000339389:p.Val211Leu						p.V211L	NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN			1	665	+			211			OTU.		B2RPB7	Missense_Mutation	SNP	ENST00000338352.2	37	c.631G>T	CCDS14395.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.082526	0.55861	.	.	ENSG00000189401	ENST00000338352	T	0.39592	1.07	4.42	3.56	0.40772	Ovarian tumour, otubain (2);	0.187662	0.45867	D	0.000325	T	0.41858	0.1177	L	0.31926	0.97	0.09310	N	1	P	0.48640	0.913	P	0.54590	0.756	T	0.15037	-1.0451	10	0.28530	T	0.3	.	9.5808	0.39486	0.1056:0.0:0.8944:0.0	.	211	Q7L8S5	OTU6A_HUMAN	L	211	ENSP00000339389:V211L	ENSP00000339389:V211L	V	+	1	0	OTUD6A	69199730	0.127000	0.22367	0.002000	0.10522	0.002000	0.02628	1.454000	0.35178	1.220000	0.43490	0.600000	0.82982	GTG		0.612	OTUD6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358763.1	NM_207320		37	55	1	0	4.16155e-14	0.840704	4.80178e-14	37	55					T	69283005	G	T	69283005	3	4	166	1	0	0	0	0	1	0	0	0	11316	1145	40	4	633	4	OTUD6A	23	69283005	Missense_Mutation	SNP	G	TCGA-E3-A3DZ-01A-11D-A20C-08	43070574	69283005	85987555	30	3518											
MID2	11043	broad.mit.edu	37	chrX	107167660	107167660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggactccagagcgggactcGctacatcttcatcgttaaag	10	11	2	1			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chrX:107167660G>A	ENST00000262843.6	+	8	2071	c.1523G>A	c.(1522-1524)cGc>cAc	p.R508H	MID2_ENST00000443968.2_Missense_Mutation_p.R478H|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	508	Fibronectin type-III.				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)|negative regulation of viral transcription (GO:0032897)|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 localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						AGCGGGACTCGCTACATCTTC	0.458																																						ENST00000262843.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						c.(1522-1524)cGc>cAc		midline 2							92	72	79					X																	107167660		2203	4300	6503	SO:0001583	missense	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107167660G>A		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.1523G>A	X.37:g.107167660G>A	ENSP00000262843:p.Arg508His					MID2_ENST00000443968.2_Missense_Mutation_p.R478H|RP6-191P20.4_ENST00000430140.1_RNA	p.R508H	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN			8	2071	+			508			Fibronectin type-III.		A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	ENST00000262843.6	37	c.1523G>A	CCDS14532.2	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758522	0.89843	.	.	ENSG00000080561	ENST00000262843;ENST00000443968	T;T	0.57436	1.05;0.4	5.99	5.99	0.97316	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.53658	0.1810	N	0.19112	0.55	0.58432	D	0.999993	D;D	0.69078	0.997;0.977	P;P	0.56088	0.791;0.651	T	0.56177	-0.8022	10	0.51188	T	0.08	.	16.6313	0.85033	0.0:0.0:1.0:0.0	.	508;478	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	H	508;478	ENSP00000262843:R508H;ENSP00000413976:R478H	ENSP00000262843:R508H	R	+	2	0	MID2	107054316	0.975000	0.34042	0.998000	0.56505	0.986000	0.74619	3.792000	0.55476	2.536000	0.85505	0.600000	0.82982	CGC		0.458	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216		6	112	0	0	0	0.217242	0	6	112					A	107167660	G	A	107167660	3	1	166	1	0	0	0	0	1	0	0	0	9578	1087	38	1	1553	1	MID2	23	107167660	Missense_Mutation	SNP	G	TCGA-E3-A3DZ-01A-11D-A20C-08	37884655	107167660	48102900	31	3519											
ATP1B4	23439	broad.mit.edu	37	chrX	119500552	119500552	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtcaaggtcagccaacagGcaatgcctggtggcagaaat	14	9	2	1			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chrX:119500552G>A	ENST00000218008.3	+	2	293	c.236G>A	c.(235-237)gGc>gAc	p.G79D	ATP1B4_ENST00000539306.1_Missense_Mutation_p.G79D|ATP1B4_ENST00000361319.3_Missense_Mutation_p.G79D	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	79					monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						CAGCCAACAGGCAATGCCTGG	0.527																																						ENST00000218008.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(235-237)gGc>gAc		ATPase, Na+/K+ transporting, beta 4 polypeptide							108	90	96					X																	119500552		2203	4300	6503	SO:0001583	missense	23439				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	g.chrX:119500552G>A	AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"ATPases / P-type"	808	protein-coding gene	gene with protein product	"Na,K-ATPase beta m-subunit"		"ATPase, (Na+)/K+ transporting, beta 4 polypeptide"			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.236G>A	X.37:g.119500552G>A	ENSP00000218008:p.Gly79Asp					ATP1B4_ENST00000361319.3_Missense_Mutation_p.G79D|ATP1B4_ENST00000539306.1_Missense_Mutation_p.G79D	p.G79D	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN			2	293	+			79					Q17RR0|Q9UN41	Missense_Mutation	SNP	ENST00000218008.3	37	c.236G>A	CCDS48158.1	.	.	.	.	.	.	.	.	.	.	G	3.910	-0.020225	0.07634	.	.	ENSG00000101892	ENST00000218008;ENST00000361319;ENST00000539306	T;T;T	0.24151	1.96;1.96;1.87	5.08	4.22	0.49857	.	0.647149	0.16749	N	0.201138	T	0.11793	0.0287	N	0.08118	0	0.35179	D	0.772304	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.0;0.002;0.002	T	0.18335	-1.0340	10	0.19590	T	0.45	-3.5794	7.5441	0.27757	0.2046:0.0:0.7954:0.0	.	79;79;79	B7ZKW0;Q9UN42;Q9UN42-2	.;AT1B4_HUMAN;.	D	79	ENSP00000218008:G79D;ENSP00000355346:G79D;ENSP00000443334:G79D	ENSP00000218008:G79D	G	+	2	0	ATP1B4	119384580	1.000000	0.71417	0.997000	0.53966	0.151000	0.21798	3.323000	0.52014	1.202000	0.43218	0.589000	0.80489	GGC		0.527	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058095.1	NM_001142447		42	48	0	0	0	0.870114	0	42	48					A	119500552	G	A	119500552	3	1	166	1	0	0	0	0	1	0	0	0	1135	1203	42	2	242	2	ATP1B4	23	119500552	Missense_Mutation	SNP	G	TCGA-E3-A3DZ-01A-11D-A20C-08	12332892	119500552	35770008	32	3520											
CASZ1	54897	broad.mit.edu	37	chr1	10714607	10714607	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgtggaagttctcgtgggtCatcacgtcagacgtgctcgt	13	9	4	1			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr1:10714607C>T	ENST00000377022.3	-	10	2024	c.1707G>A	c.(1705-1707)atG>atA	p.M569I	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Missense_Mutation_p.M569I	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	569					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TCTCGTGGGTCATCACGTCAG	0.597																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(1705-1707)atG>atA		castor zinc finger 1							251	227	236					1																	10714607		2203	4300	6503	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10714607C>T	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1707G>A	1.37:g.10714607C>T	ENSP00000366221:p.Met569Ile					CASZ1_ENST00000344008.5_Missense_Mutation_p.M569I	p.M569I	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	10	2024	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	569					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.1707G>A	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280048	0.80692	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.97	4.97	0.65823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.64000	0.2559	N	0.22421	0.69	0.54753	D	0.999989	B;P;P	0.46952	0.335;0.669;0.887	B;B;P	0.62184	0.188;0.259;0.899	T	0.66126	-0.6001	9	0.49607	T	0.09	-28.3319	18.6257	0.91336	0.0:1.0:0.0:0.0	.	593;569;569	B7Z1S3;Q86V15-2;Q86V15	.;.;CASZ1_HUMAN	I	569	.	ENSP00000339445:M569I	M	-	3	0	CASZ1	10637194	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	7.424000	0.80242	2.478000	0.83669	0.561000	0.74099	ATG		0.597	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		6	286	0	0	0	1	0	6	286					T	10714607	C	T	10714607	3	4	167	1	0	0	0	0	1	0	0	0	2685	826	29	2	3624	2	CASZ1	1	10714607	Missense_Mutation	SNP	C	TCGA-E3-A3E0-01A-11D-A20C-08		10714607	238536014	1	3521											
CPSF3	51692	broad.mit.edu	37	chr2	9570993	9570993	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttatagatggcttctttctGattatgtcaaagttaggtaa	8	4	3	2			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr2:9570993G>A	ENST00000238112.3	+	4	531	c.325G>A	c.(325-327)Gat>Aat	p.D109N	CPSF3_ENST00000460593.1_Missense_Mutation_p.D72N	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	109					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	5'-3' exonuclease activity (GO:0008409)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		GCTTCTTTCTGATTATGTCAA	0.348																																					Colon(194;1259 2048 3845 5218 19985)	ENST00000460593.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(214-216)Gat>Aat		cleavage and polyadenylation specific factor 3, 73kDa							94	99	98					2																	9570993		2203	4300	6503	SO:0001583	missense	51692				histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding	g.chr2:9570993G>A	AF171877	CCDS1664.1	2p25.1	2009-01-06	2002-08-29		ENSG00000119203	ENSG00000119203			2326	protein-coding gene	gene with protein product		606029	"cleavage and polyadenylation specific factor 3, 73kD subunit"			8929409	Standard	NM_016207		Approved	CPSF-73, CPSF73, YSH1	uc002qzo.2	Q9UKF6	OTTHUMG00000090415	ENST00000238112.3:c.325G>A	2.37:g.9570993G>A	ENSP00000238112:p.Asp109Asn					CPSF3_ENST00000238112.3_Missense_Mutation_p.D109N	p.D72N			Q9UKF6	CPSF3_HUMAN		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)	4	1352	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)	109					O14769|Q53RS2|Q96F36	Missense_Mutation	SNP	ENST00000238112.3	37	c.214G>A	CCDS1664.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.037056	0.93630	.	.	ENSG00000119203	ENST00000238112;ENST00000475482;ENST00000427001;ENST00000460593	T;T;T	0.60672	0.17;0.17;0.17	5.65	5.65	0.86999	Beta-lactamase-like (2);	0.000000	0.85682	D	0.000000	D	0.83608	0.5291	H	0.94698	3.57	0.80722	D	1	D;D	0.89917	1.0;0.981	D;D	0.77004	0.989;0.966	D	0.87595	0.2493	10	0.72032	D	0.01	-6.0454	19.7341	0.96195	0.0:0.0:1.0:0.0	.	109;109	E7ER23;Q9UKF6	.;CPSF3_HUMAN	N	109;72;109;72	ENSP00000238112:D109N;ENSP00000419744:D72N;ENSP00000418957:D72N	ENSP00000238112:D109N	D	+	1	0	CPSF3	9488444	1.000000	0.71417	0.998000	0.56505	0.922000	0.55478	9.759000	0.98931	2.672000	0.90937	0.650000	0.86243	GAT		0.348	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206843.1	NM_016207		20	46	0	0	0	1	0	20	46					A	9570993	G	A	9570993	3	1	167	1	0	0	0	0	1	0	0	0	3826	1290	45	2	339	2	CPSF3	2	9570993	Missense_Mutation	SNP	G	TCGA-E3-A3E0-01A-11D-A20C-08		9570993	233628380	2	3522											
BCL11A	53335	broad.mit.edu	37	chr2	60688216	60688216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggccccccgaggccgactCgcccggggagcagccgcggc	16	19	0	0			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr2:60688216C>T	ENST00000335712.6	-	4	2058	c.1831G>A	c.(1831-1833)Gag>Aag	p.E611K	BCL11A_ENST00000356842.4_Missense_Mutation_p.E611K|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Missense_Mutation_p.E280K|BCL11A_ENST00000538214.1_Missense_Mutation_p.E577K|BCL11A_ENST00000358510.4_Missense_Mutation_p.E577K|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	611					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|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)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GAGGCCGACTCGCCCGGGGAG	0.662			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(1831-1833)Gag>Aag		B-cell CLL/lymphoma 11A (zinc finger protein)							13	17	15					2																	60688216		2139	4227	6366	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688216C>T	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"Zinc fingers, C2H2-type"	13221	protein-coding gene	gene with protein product		606557	"ecotropic viral integration site 9"	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1831G>A	2.37:g.60688216C>T	ENSP00000338774:p.Glu611Lys					BCL11A_ENST00000358510.4_Missense_Mutation_p.E577K|BCL11A_ENST00000356842.4_Missense_Mutation_p.E611K|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Missense_Mutation_p.E577K|BCL11A_ENST00000537768.1_Missense_Mutation_p.E280K|BCL11A_ENST00000477659.1_5'UTR	p.E611K	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	2058	-			611					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.1831G>A	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.110620	0.56398	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000537768;ENST00000335712;ENST00000358510	T;T;T;T;T	0.09630	2.96;3.23;3.13;3.25;3.18	6.17	6.17	0.99709	.	0.329559	0.31809	N	0.007030	T	0.25494	0.0620	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D	0.67145	0.996;0.993;0.988;0.979;0.994	P;B;P;B;P	0.56788	0.806;0.439;0.548;0.342;0.738	T	0.00699	-1.1604	10	0.15952	T	0.53	-3.0403	20.8794	0.99867	0.0:1.0:0.0:0.0	.	577;280;577;611;611	F5H2Y4;B4DT16;Q9H165-6;Q9H165;D9YZV9	.;.;.;BC11A_HUMAN;.	K	611;636;577;280;611;577	ENSP00000349300:E611K;ENSP00000438303:E577K;ENSP00000443712:E280K;ENSP00000338774:E611K;ENSP00000351307:E577K	ENSP00000338774:E611K	E	-	1	0	BCL11A	60541720	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.813000	0.86123	2.941000	0.99782	0.655000	0.94253	GAG		0.662	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		16	29	0	0	0	1	0	16	29					T	60688216	C	T	60688216	3	4	167	1	0	0	0	0	1	0	0	0	1363	893	31	1	786	1	BCL11A	2	60688216	Missense_Mutation	SNP	C	TCGA-E3-A3E0-01A-11D-A20C-08	51117223	60688216	182511157	3	3523											
DCP1A	55802	broad.mit.edu	37	chr3	53381536	53381536	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcccagctcgactcagCgcctccatcttgaatcccag	7	18	2	1			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr3:53381536C>A	ENST00000607628.1	-	1	118	c.9G>T	c.(7-9)gcG>gcT	p.A3A	DCP1A_ENST00000606822.1_Silent_p.A3A|DCP1A_ENST00000480258.1_5'UTR|DCP1A_ENST00000294241.6_Silent_p.A3A	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	3					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)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		CTCGACTCAGCGCCTCCATCT	0.617																																						ENST00000607628.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(7-9)gcG>gcT		decapping mRNA 1A							69	82	78					3																	53381536		2134	4261	6395	SO:0001819	synonymous_variant	55802				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding	g.chr3:53381536C>A	AJ275986	CCDS74946.1	3p21.1	2013-05-02	2013-05-02		ENSG00000162290	ENSG00000272886			18714	protein-coding gene	gene with protein product		607010	"DCP1 decapping enzyme homolog A (S. cerevisiae)"				Standard	XM_005278360		Approved	HSA275986, SMIF, SMAD4IP1	uc021wzi.1	Q9NPI6	OTTHUMG00000158193	ENST00000607628.1:c.9G>T	3.37:g.53381536C>A						DCP1A_ENST00000480258.1_5'UTR|DCP1A_ENST00000606822.1_Silent_p.A3A|DCP1A_ENST00000294241.6_Silent_p.A3A	p.A3A	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)	1	118	-			3					B4DHN9|U3KQM8	Silent	SNP	ENST00000607628.1	37	c.9G>T																																																																																					0.617	DCP1A-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_018403		4	109	1	0	0.000602214	1	0.000602214	4	109					A	53381536	C	A	53381536	2	1	167	1	0	0	0	0	0	0	0	1	4298	755	27	4		4	DCP1A	3	53381536	Silent	SNP	C	TCGA-E3-A3E0-01A-11D-A20C-08		53381536	144640894	4	3524											
MUC13	56667	broad.mit.edu	37	chr3	124629312	124629312	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctgagaatgacaatgccagcGatggtgcccacaatagtgag	12	9	0	3			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr3:124629312G>T	ENST00000311075.3	-	10	1322	c.1284C>A	c.(1282-1284)atC>atA	p.I428I		NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	429					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						CAATGCCAGCGATGGTGCCCA	0.403																																						ENST00000311075.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						c.(1282-1284)atC>atA		mucin 13, cell surface associated							82	77	78					3																	124629312		2203	4300	6503	SO:0001819	synonymous_variant	56667					extracellular region|integral to membrane|plasma membrane		g.chr3:124629312G>T	AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"Mucins"	7511	protein-coding gene	gene with protein product		612181	"down-regulated in colon cancer 1", "mucin 13, epithelial transmembrane"	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.1284C>A	3.37:g.124629312G>T							p.I428I	NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN			10	1322	-			428					Q6UWD9|Q9NXT5	Silent	SNP	ENST00000311075.3	37	c.1284C>A																																																																																					0.403	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1	NM_033049		22	103	1	0	2.47511e-08	1	2.68137e-08	22	103					T	124629312	G	T	124629312	2	4	167	1	0	0	0	0	0	0	0	1	9971	1048	37	4		4	MUC13	3	124629312	Silent	SNP	G	TCGA-E3-A3E0-01A-11D-A20C-08	71247776	124629312	73393118	5	3525											
RBM47	54502	broad.mit.edu	37	chr4	40440487	40440487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgctgcagcacacgccgaGcaggcggcccgggcggatct	15	16	1	0			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr4:40440487G>A	ENST00000381793.2	-	3	820	c.424C>T	c.(424-426)Ctc>Ttc	p.L142F	RBM47_ENST00000514014.1_Missense_Mutation_p.L104F|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Missense_Mutation_p.L142F|RBM47_ENST00000381795.6_Missense_Mutation_p.L142F|RBM47_ENST00000319592.4_Missense_Mutation_p.L142F			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	142	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CACACGCCGAGCAGGCGGCCC	0.622																																						ENST00000319592.4																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(424-426)Ctc>Ttc		RNA binding motif protein 47							43	38	39					4																	40440487		2203	4300	6503	SO:0001583	missense	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40440487G>A	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"RNA binding motif (RRM) containing"	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.424C>T	4.37:g.40440487G>A	ENSP00000371212:p.Leu142Phe					RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Missense_Mutation_p.L142F|RBM47_ENST00000381793.2_Missense_Mutation_p.L142F|RBM47_ENST00000514014.1_Missense_Mutation_p.L104F|RBM47_ENST00000295971.7_Missense_Mutation_p.L142F	p.L142F			A0AV96	RBM47_HUMAN			4	1133	-			142			RRM 1.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	37	c.424C>T	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.414495	0.42817	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014;ENST00000515053;ENST00000513473;ENST00000505414	T;T;T;T;T;T;T;T	0.57107	2.97;0.42;2.97;0.42;0.42;2.97;0.42;0.42	5.78	5.78	0.91487	RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.76709	0.4025	M	0.92219	3.285	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.80764	0.994;0.969	T	0.81239	-0.1023	10	0.87932	D	0	-21.5585	10.4174	0.44329	0.1444:0.0:0.8556:0.0	.	142;142	A0AV96-2;A0AV96	.;RBM47_HUMAN	F	142;142;142;142;104;142;142;142	ENSP00000320108:L142F;ENSP00000371212:L142F;ENSP00000371214:L142F;ENSP00000295971:L142F;ENSP00000423243:L104F;ENSP00000422564:L142F;ENSP00000421589:L142F;ENSP00000423527:L142F	ENSP00000295971:L142F	L	-	1	0	RBM47	40135244	1.000000	0.71417	0.999000	0.59377	0.095000	0.18619	4.255000	0.58804	2.740000	0.93945	0.313000	0.20887	CTC		0.622	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		3	63	0	0	0	1	0	3	63					A	40440487	G	A	40440487	3	1	167	1	0	0	0	0	1	0	0	0	13141	971	34	2	1373	2	RBM47	4	40440487	Missense_Mutation	SNP	G	TCGA-E3-A3E0-01A-11D-A20C-08		40440487	150713789	6	3526											
BMP2K	55589	broad.mit.edu	37	chr4	79792085	79792085	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagcatcgtcatcctcaccaGcagcagcagcagcagcagca	9	16	2	0	rs376418550	byFrequency	TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr4:79792085G>C	ENST00000335016.5	+	11	1546	c.1380G>C	c.(1378-1380)caG>caC	p.Q460H	BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	460	Gln/His-rich.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)	p.Q460H(3)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ATCCTCACcagcagcagcagc	0.577																																						ENST00000335016.5																			3	Substitution - Missense(3)	p.Q460H(3)	endometrium(2)|prostate(1)	NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1378-1380)caG>caC		BMP2 inducible kinase							40	45	44					4																	79792085		2203	4300	6503	SO:0001583	missense	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79792085G>C	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1380G>C	4.37:g.79792085G>C	ENSP00000334836:p.Gln460His					BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H	p.Q460H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			11	1546	+			460			Gln/His-rich.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	c.1380G>C	CCDS47083.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.089|8.089	0.774118|0.774118	0.16051|0.16051	.|.	.|.	ENSG00000138756|ENSG00000138756	ENST00000502613|ENST00000502871;ENST00000335016;ENST00000264889	.|T;T	.|0.74002	.|0.79;-0.8	5.12|5.12	2.26|2.26	0.28386|0.28386	.|.	.|1.238260	.|0.06146	.|N	.|0.673324	T|T	0.57504|0.57504	0.2058|0.2058	N|N	0.15975|0.15975	0.35|0.35	0.30181|0.30181	N|N	0.800383|0.800383	.|B;B	.|0.06786	.|0.001;0.0	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.51803|0.51803	-0.8659|-0.8659	5|10	.|0.42905	.|T	.|0.14	0.0809|0.0809	5.9141|5.9141	0.19045|0.19045	0.0722:0.2493:0.5501:0.1284|0.0722:0.2493:0.5501:0.1284	.|.	.|460;460	.|Q9NSY1;Q4W5H2	.|BMP2K_HUMAN;.	P|H	153|460;460;474	.|ENSP00000421768:Q460H;ENSP00000334836:Q460H	.|ENSP00000264889:Q474H	A|Q	+|+	1|3	0|2	BMP2K|BMP2K	80011109|80011109	0.996000|0.996000	0.38824|0.38824	0.995000|0.995000	0.50966|0.50966	0.181000|0.181000	0.23173|0.23173	0.092000|0.092000	0.15066|0.15066	0.524000|0.524000	0.28502|0.28502	0.460000|0.460000	0.39030|0.39030	GCA|CAG		0.577	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		3	67	0	0	0	1	0	3	67					C	79792085	G	C	79792085	3	2	167	1	0	0	0	0	1	0	0	0	1460	962	34	4	1422	4	BMP2K	4	79792085	Missense_Mutation	SNP	G	TCGA-E3-A3E0-01A-11D-A20C-08	39351598	79792085	111362191	7	3527											
TRIM36	55521	broad.mit.edu	37	chr5	114482788	114482788	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggtctgaagttagtagttGgaccaacatactcatgttga	11	6	2	2			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr5:114482788G>T	ENST00000282369.3	-	3	723	c.602C>A	c.(601-603)cCa>cAa	p.P201Q	TRIM36_ENST00000514154.1_Missense_Mutation_p.P46Q|TRIM36_ENST00000515104.1_5'UTR|TRIM36-IT1_ENST00000503723.1_RNA|TRIM36_ENST00000513154.1_Missense_Mutation_p.P189Q	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	201					acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GTTAGTAGTTGGACCAACATA	0.328																																						ENST00000513154.1																			0				breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37						c.(565-567)cCa>cAa		tripartite motif containing 36							81	82	81					5																	114482788		2202	4300	6502	SO:0001583	missense	55521					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	g.chr5:114482788G>T	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16280	protein-coding gene	gene with protein product	"zinc-binding protein Rbcc728", "tripartite motif protein 36", "RING finger protein 98"	609317	"tripartite motif-containing 36"			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.602C>A	5.37:g.114482788G>T	ENSP00000282369:p.Pro201Gln					TRIM36_ENST00000282369.3_Missense_Mutation_p.P201Q|TRIM36_ENST00000514154.1_Missense_Mutation_p.P46Q|TRIM36_ENST00000515104.1_5'UTR	p.P189Q			Q9NQ86	TRI36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)	3	892	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	201					A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	c.566C>A	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536008	0.85812	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000514154	D;D;T	0.87571	-2.27;-2.27;-0.53	5.49	5.49	0.81192	.	0.196250	0.56097	D	0.000035	D	0.94647	0.8274	M	0.90309	3.105	0.80722	D	1	D;D	0.67145	0.993;0.996	P;D	0.65684	0.843;0.937	D	0.95351	0.8447	10	0.87932	D	0	.	19.3708	0.94484	0.0:0.0:1.0:0.0	.	189;201	E9PFI8;Q9NQ86	.;TRI36_HUMAN	Q	201;189;46	ENSP00000282369:P201Q;ENSP00000423934:P189Q;ENSP00000424259:P46Q	ENSP00000282369:P201Q	P	-	2	0	TRIM36	114510687	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	9.338000	0.96553	2.571000	0.86741	0.467000	0.42956	CCA		0.328	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		15	29	1	0	3.27435e-08	1	3.40533e-08	15	29					T	114482788	G	T	114482788	3	4	167	1	0	0	0	0	1	0	0	0	16507	1348	47	4	1616	4	TRIM36	5	114482788	Missense_Mutation	SNP	G	TCGA-E3-A3E0-01A-11D-A20C-08		114482788	66432472	8	3528											
RAPGEF6	51735	broad.mit.edu	37	chr5	130769300	130769300	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accgtgaagaaatctcactaTggctggagtcagacaagttg	11	8	2	3			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr5:130769300T>A	ENST00000509018.1	-	25	4002	c.3797A>T	c.(3796-3798)cAt>cTt	p.H1266L	RAPGEF6_ENST00000307984.5_Missense_Mutation_p.H1279L|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.H1274L|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.H1316L|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.H1274L	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1266	Ser-rich.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AATCTCACTATGGCTGGAGTC	0.448																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(3796-3798)cAt>cTt		Rap guanine nucleotide exchange factor (GEF) 6							116	106	109					5																	130769300		2203	4300	6503	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130769300T>A	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"PDZ domain containing guanine nucleotide exchange factor (GEF) 2"	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.3797A>T	5.37:g.130769300T>A	ENSP00000421684:p.His1266Leu					RAPGEF6_ENST00000507093.1_Missense_Mutation_p.H1274L|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.H1274L|FNIP1_ENST00000514667.1_Missense_Mutation_p.H1316L|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.H1279L	p.H1266L	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	25	4002	-			1266			Ser-rich.		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.3797A>T	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	T	31	5.086001	0.94100	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000514667	T;T;T;T;T	0.29142	1.68;1.58;1.59;1.68;1.78	5.83	5.83	0.93111	.	0.140369	0.64402	D	0.000005	T	0.52725	0.1752	M	0.68952	2.095	0.80722	D	1	D;P;P;D;P	0.60160	0.978;0.599;0.599;0.987;0.599	P;B;B;P;B	0.62813	0.809;0.284;0.284;0.907;0.284	T	0.55231	-0.8173	10	0.72032	D	0.01	.	16.2141	0.82191	0.0:0.0:0.0:1.0	.	1274;1274;1316;1279;1266	A3KN82;B7ZML2;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;RPGF6_HUMAN	L	1266;1279;1274;1274;1279;1316	ENSP00000421684:H1266L;ENSP00000309298:H1279L;ENSP00000426081:H1274L;ENSP00000296859:H1274L;ENSP00000426948:H1316L	ENSP00000426948:H1316L	H	-	2	0	RAPGEF6;FNIP1	130797199	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.160000	0.77495	2.224000	0.72417	0.528000	0.53228	CAT		0.448	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		32	62	0	0	0	1	0	32	62					A	130769300	T	A	130769300	3	1	167	1	0	0	0	0	1	0	0	0	13048	1464	51	5	1024	5	RAPGEF6	5	130769300	Missense_Mutation	SNP	T	TCGA-E3-A3E0-01A-11D-A20C-08	16286512	130769300	50145960	9	3529											
ZPBP	11055	broad.mit.edu	37	chr7	50057890	50057890	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgtacatcgcttgggtccTttttcagtgtctagagatga	10	8	3	2			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr7:50057890T>C	ENST00000046087.2	-	6	798	c.729A>G	c.(727-729)aaA>aaG	p.K243K	ZPBP_ENST00000491129.1_Intron|ZPBP_ENST00000419417.1_Silent_p.K242K	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	243					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					GCTTGGGTCCTTTTTCAGTGT	0.294																																						ENST00000046087.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29						c.(727-729)aaA>aaG		zona pellucida binding protein							91	89	90					7																	50057890		2203	4300	6503	SO:0001819	synonymous_variant	11055				binding of sperm to zona pellucida	extracellular region		g.chr7:50057890T>C	D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.729A>G	7.37:g.50057890T>C						ZPBP_ENST00000419417.1_Silent_p.K242K|ZPBP_ENST00000491129.1_Intron	p.K243K	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN			6	798	-	Glioma(55;0.08)|all_neural(89;0.245)		243					A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Silent	SNP	ENST00000046087.2	37	c.729A>G	CCDS5509.1																																																																																				0.294	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1	NM_007009		3	55	0	0	0	1	0	3	55					C	50057890	T	C	50057890	2	2	167	1	0	0	0	0	0	0	0	1	18216	1606	56	3		3	ZPBP	7	50057890	Silent	SNP	T	TCGA-E3-A3E0-01A-11D-A20C-08		50057890	109080773	10	3530											
GOT1L1	137362	broad.mit.edu	37	chr8	37795175	37795175	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttttgagaagagatgatGtaaactatacgagcatcctt	8	7	0	3			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr8:37795175G>A	ENST00000307599.4	-	3	489	c.390C>T	c.(388-390)taC>taT	p.Y130Y	GOT1L1_ENST00000518826.1_5'Flank	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	130					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)	cytoplasm (GO:0005737)	pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			AAGAGATGATGTAAACTATAC	0.498																																						ENST00000307599.4																			0				central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14						c.(388-390)taC>taT		glutamic-oxaloacetic transaminase 1-like 1							62	63	63					8																	37795175		2000	4173	6173	SO:0001819	synonymous_variant	137362				biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity	g.chr8:37795175G>A	BC029504	CCDS47839.1	8p12	2005-09-22			ENSG00000169154	ENSG00000169154			28487	protein-coding gene	gene with protein product						12477932	Standard	NM_152413		Approved	MGC33309	uc011lbj.1	Q8NHS2	OTTHUMG00000164027	ENST00000307599.4:c.390C>T	8.37:g.37795175G>A							p.Y130Y	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		3	489	-	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	130					A8MWL4	Silent	SNP	ENST00000307599.4	37	c.390C>T	CCDS47839.1																																																																																				0.498	GOT1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376823.1	NM_152413		10	14	0	0	0	1	0	10	14					A	37795175	G	A	37795175	2	1	167	1	0	0	0	0	0	0	0	1	6580	1372	48	2		2	GOT1L1	8	37795175	Silent	SNP	G	TCGA-E3-A3E0-01A-11D-A20C-08		37795175	108568847	11	3531											
PGM5	5239	broad.mit.edu	37	chr9	70999448	70999448	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgacctagaaaacaaattcAaaccattcagaggtaacaga	6	8	2	4			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr9:70999448A>G	ENST00000396396.1	+	3	788	c.559A>G	c.(559-561)Aaa>Gaa	p.K187E	PGM5_ENST00000396392.1_Missense_Mutation_p.K187E|PGM5_ENST00000604870.2_3'UTR	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	187					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						AAACAAATTCAAACCATTCAG	0.378																																						ENST00000396396.1																			0				endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						c.(559-561)Aaa>Gaa		phosphoglucomutase 5							60	59	60					9																	70999448		2203	4299	6502	SO:0001583	missense	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:70999448A>G	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"phosphoglucomutase-related protein"	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.559A>G	9.37:g.70999448A>G	ENSP00000379678:p.Lys187Glu					PGM5_ENST00000396392.1_Missense_Mutation_p.K187E|PGM5_ENST00000604870.2_3'UTR	p.K187E	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN			3	788	+			187					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	ENST00000396396.1	37	c.559A>G	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	.	14.18	2.458050	0.43634	.	.	ENSG00000154330	ENST00000396396;ENST00000396392	T;T	0.62941	-0.01;-0.01	4.36	4.36	0.52297	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);	0.054741	0.64402	U	0.000001	T	0.48589	0.1508	L	0.27053	0.805	0.50171	D	0.999856	B	0.10296	0.003	B	0.06405	0.002	T	0.45026	-0.9289	10	0.42905	T	0.14	.	12.8119	0.57645	1.0:0.0:0.0:0.0	.	187	Q15124	PGM5_HUMAN	E	187	ENSP00000379678:K187E;ENSP00000379674:K187E	ENSP00000379674:K187E	K	+	1	0	PGM5	70189268	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.105000	0.77031	1.712000	0.51347	0.467000	0.42956	AAA		0.378	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		27	49	0	0	0	1	0	27	49					G	70999448	A	G	70999448	3	3	167	1	0	0	0	0	1	0	0	0	11801	131	5	3	569	3	PGM5	9	70999448	Missense_Mutation	SNP	A	TCGA-E3-A3E0-01A-11D-A20C-08		70999448	70213983	12	3532											
TRHDE	29953	broad.mit.edu	37	chr12	73012793	73012793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctagataaattactggaccGcatggaaaactacaacattt	6	8	1	1			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr12:73012793G>A	ENST00000261180.4	+	13	2405	c.2309G>A	c.(2308-2310)cGc>cAc	p.R770H		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	770					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTACTGGACCGCATGGAAAAC	0.333																																						ENST00000261180.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(2308-2310)cGc>cAc		thyrotropin-releasing hormone degrading enzyme							43	46	45					12																	73012793		2200	4300	6500	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:73012793G>A	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2309G>A	12.37:g.73012793G>A	ENSP00000261180:p.Arg770His						p.R770H	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			13	2405	+			770					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.2309G>A	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.957892	0.73902	.	.	ENSG00000072657	ENST00000261180	T	0.05580	3.42	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.25606	0.0623	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00035	-1.2260	10	0.35671	T	0.21	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	770	Q9UKU6	TRHDE_HUMAN	H	770	ENSP00000261180:R770H	ENSP00000261180:R770H	R	+	2	0	TRHDE	71299060	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.055000	0.93873	2.885000	0.99019	0.655000	0.94253	CGC		0.333	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		3	68	0	0	0	1	0	3	68					A	73012793	G	A	73012793	3	1	167	1	0	0	0	0	1	0	0	0	16476	1087	38	1	2359	1	TRHDE	12	73012793	Missense_Mutation	SNP	G	TCGA-E3-A3E0-01A-11D-A20C-08		73012793	60839102	13	3533											
C14orf21	161424	broad.mit.edu	37	chr14	24774190	24774190	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaccctttcggccaccatgtGgctcgaaatgtggccttgac	11	13	0	1			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr14:24774190G>T	ENST00000267425.3	+	10	1893	c.1800G>T	c.(1798-1800)gtG>gtT	p.V600V	NOP9_ENST00000396802.3_3'UTR	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	600							poly(A) RNA binding (GO:0044822)										GCCACCATGTGGCTCGAAATG	0.552																																						ENST00000267425.3																			0											c.(1798-1800)gtG>gtT		NOP9 nucleolar protein							62	57	59					14																	24774190		2203	4300	6503	SO:0001819	synonymous_variant	161424							g.chr14:24774190G>T		CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 21", "NOP9 nucleolar protein homolog (yeast)"	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.1800G>T	14.37:g.24774190G>T						NOP9_ENST00000396802.3_3'UTR	p.V600V	NM_174913.1	NP_777573.1					10	1893	+								A8MY76|Q8IVF0|Q8TBS6	Silent	SNP	ENST00000267425.3	37	c.1800G>T	CCDS9624.1																																																																																				0.552	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073186.2			29	60	1	0	1.36615e-20	1	1.54434e-20	29	60					T	24774190	G	T	24774190	2	4	167	1	0	0	0	0	0	0	0	1	1769	1335	47	4		4	C14orf21	14	24774190	Silent	SNP	G	TCGA-E3-A3E0-01A-11D-A20C-08		24774190	82575350	14	3534											
MAP3K9	4293	broad.mit.edu	37	chr14	71275776	71275776	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcccaccgccgccgccgccTcctcctcctcctcctcctcc	6	27	0	0	rs397840789|rs201322413		TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr14:71275776T>G	ENST00000554752.2	-	1	112	c.113A>C	c.(112-114)gAg>gCg	p.E38A	MAP3K9_ENST00000555993.2_Missense_Mutation_p.E38A|MAP3K9_ENST00000381250.4_Missense_Mutation_p.E38A|RP6-65G23.3_ENST00000557691.1_lincRNA	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	38	Ala-rich.|Poly-Glu.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.E38delE(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CGCCGCCGcctcctcctcctc	0.776																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			1	Deletion - In frame(1)	p.E38delE(1)	ovary(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(112-114)gAg>gCg		mitogen-activated protein kinase kinase kinase 9							3	4	4					14																	71275776		1664	3359	5023	SO:0001583	missense	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71275776T>G	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.113A>C	14.37:g.71275776T>G	ENSP00000451612:p.Glu38Ala					MAP3K9_ENST00000555993.2_Missense_Mutation_p.E38A|MAP3K9_ENST00000381250.4_Missense_Mutation_p.E38A	p.E38A			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	1	112	-			38			Ala-rich.|Poly-Glu.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	37	c.113A>C		.	.	.	.	.	.	.	.	.	.	T	10.15	1.272242	0.23221	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000381250	T;T	0.74209	-0.82;-0.81	3.07	-0.248	0.13015	.	1.098320	0.07227	N	0.861903	T	0.54415	0.1857	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.13548	-1.0505	10	0.23302	T	0.38	.	11.6179	0.51099	0.0:0.0:0.4494:0.5506	.	38;38	P80192;P80192-4	M3K9_HUMAN;.	A	38	ENSP00000451612:E38A;ENSP00000370649:E38A	ENSP00000005198:E38A	E	-	2	0	MAP3K9	70345529	0.912000	0.30974	0.992000	0.48379	0.724000	0.41520	1.143000	0.31553	-0.577000	0.05967	-1.313000	0.01306	GAG		0.776	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			2	3	0	0	0	1	0	2	3					G	71275776	T	G	71275776	3	3	167	1	0	0	0	0	1	0	0	0	9257	1551	54	5	3295	5	MAP3K9	14	71275776	Missense_Mutation	SNP	T	TCGA-E3-A3E0-01A-11D-A20C-08	46501586	71275776	36073764	15	3535											
COL4A5	1287	broad.mit.edu	37	chrX	107812034	107812034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggacctcaaggtattcccGgatgcaatggaaccaaggtg	12	10	1	0	rs104886046		TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chrX:107812034G>A	ENST00000361603.2	+	6	611	c.367G>A	c.(367-369)Gga>Aga	p.G123R	COL4A5_ENST00000328300.6_Missense_Mutation_p.G123R	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	123	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AGGTATTCCCGGATGCAATGG	0.383									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(367-369)Gga>Aga		collagen, type IV, alpha 5							89	84	85					X																	107812034		2203	4300	6503	SO:0001583	missense	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107812034G>A	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.367G>A	X.37:g.107812034G>A	ENSP00000354505:p.Gly123Arg					COL4A5_ENST00000361603.2_Missense_Mutation_p.G123R	p.G123R	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			6	611	+			123			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.367G>A	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.729193	0.69074	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.99186	-5.53;-5.53	4.89	4.89	0.63831	.	0.062950	0.64402	D	0.000006	D	0.99597	0.9854	H	0.97874	4.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97575	1.0107	10	0.87932	D	0	.	17.3152	0.87221	0.0:0.0:1.0:0.0	.	123;123	E7EVY4;P29400	.;CO4A5_HUMAN	R	123	ENSP00000331902:G123R;ENSP00000354505:G123R	ENSP00000331902:G123R	G	+	1	0	COL4A5	107698690	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	8.860000	0.92272	2.270000	0.75569	0.600000	0.82982	GGA		0.383	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			55	104	0	0	0	1	0	55	104					A	107812034	G	A	107812034	3	1	167	1	0	0	0	0	1	0	0	0	3694	1117	39	1	389	1	COL4A5	23	107812034	Missense_Mutation	SNP	G	TCGA-E3-A3E0-01A-11D-A20C-08		107812034	47458526	16	3536											
ODZ1	10178	broad.mit.edu	37	chrX	123556255	123556255	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcgtctgtttcagctatgaaGagcagcccgctgtgggagac	13	10	2	3	rs369708233		TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chrX:123556255G>C	ENST00000371130.3	-	23	4380	c.4317C>G	c.(4315-4317)ctC>ctG	p.L1439L	STAG2_ENST00000469481.1_3'UTR|TENM1_ENST00000422452.2_Silent_p.L1446L	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1439					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CAGCTATGAAGAGCAGCCCGC	0.537																																						ENST00000422452.2																			0											c.(4336-4338)ctC>ctG		teneurin transmembrane protein 1		G	,,	1,3834		0,0,1,1632,570	158	120	133		4338,4335,4317	3.8	1.0	X		133	0,6728		0,0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous	ODZ1	NM_001163278.1,NM_001163279.1,NM_014253.3	,,	0,0,1,4060,2442	CC,CG,C,GG,G		0.0,0.0261,0.0095	,,	1446/2733,1445/2732,1439/2726	123556255	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	10178							g.chrX:123556255G>C	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.4317C>G	X.37:g.123556255G>C						STAG2_ENST00000469481.1_3'UTR|TENM1_ENST00000371130.3_Silent_p.L1439L	p.L1446L	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					24	4401	-								B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.4338C>G	CCDS14609.1																																																																																				0.537	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		6	209	0	0	0	1	0	6	209					C	123556255	G	C	123556255	2	2	167	1	0	0	0	0	0	0	0	1	10834	929	33	4		4	ODZ1	23	123556255	Silent	SNP	G	TCGA-E3-A3E0-01A-11D-A20C-08	15744221	123556255	31714305	17	3537											
INPP5B	3633	broad.mit.edu	37	chr1	38409493	38409493	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tccagcgtaaaatcccgcgaGactggcactatctggtccag	10	13	1	1			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr1:38409493G>C	ENST00000373026.1	-	3	225	c.225C>G	c.(223-225)gtC>gtG	p.V75V	INPP5B_ENST00000373021.1_Silent_p.V75V|INPP5B_ENST00000373024.3_Silent_p.V75V|INPP5B_ENST00000373023.2_Silent_p.V75V			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	75	PH.				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)				AATCCCGCGAGACTGGCACTA	0.582																																						ENST00000373023.2																			0				breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15						c.(223-225)gtC>gtG		inositol polyphosphate-5-phosphatase, 75kDa							93	91	92					1																	38409493		1953	4148	6101	SO:0001819	synonymous_variant	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.chr1:38409493G>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.225C>G	1.37:g.38409493G>C						INPP5B_ENST00000373021.1_Silent_p.V75V|INPP5B_ENST00000373024.3_Silent_p.V75V|INPP5B_ENST00000373026.1_Silent_p.V75V	p.V75V	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN			4	318	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	75					C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Silent	SNP	ENST00000373026.1	37	c.225C>G																																																																																					0.582	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		6	207	0	0	0	1	0	6	207					C	38409493	G	C	38409493	2	2	168	1	0	0	0	0	0	0	0	1	7755	929	33	4		4	INPP5B	1	38409493	Silent	SNP	G	TCGA-E3-A3E1-01A-11D-A20C-08		38409493	210841128	1	3538											
AGL	178	broad.mit.edu	37	chr1	100366293	100366293	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caattgtcgggatgctgtgtGgtggtggctgcagtgtatcc	16	7	0	0			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr1:100366293G>A	ENST00000294724.4	+	26	3942	c.3464G>A	c.(3463-3465)tGg>tAg	p.W1155*	AGL_ENST00000361522.4_Nonsense_Mutation_p.W1138*|AGL_ENST00000370163.3_Nonsense_Mutation_p.W1155*|AGL_ENST00000361302.3_Nonsense_Mutation_p.W1139*|AGL_ENST00000370161.2_Nonsense_Mutation_p.W1139*|AGL_ENST00000361915.3_Nonsense_Mutation_p.W1155*|AGL_ENST00000370165.3_Nonsense_Mutation_p.W1155*	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1155					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GATGCTGTGTGGTGGTGGCTG	0.428																																						ENST00000294724.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(3463-3465)tGg>tAg		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase							281	265	271					1																	100366293		2203	4300	6503	SO:0001587	stop_gained	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100366293G>A	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"glycogen debranching enzyme", "glycogen storage disease type III"	610860	"amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.3464G>A	1.37:g.100366293G>A	ENSP00000294724:p.Trp1155*					AGL_ENST00000361522.4_Nonsense_Mutation_p.W1138*|AGL_ENST00000370163.3_Nonsense_Mutation_p.W1155*|AGL_ENST00000361915.3_Nonsense_Mutation_p.W1155*|AGL_ENST00000370165.3_Nonsense_Mutation_p.W1155*|AGL_ENST00000361302.3_Nonsense_Mutation_p.W1139*|AGL_ENST00000370161.2_Nonsense_Mutation_p.W1139*	p.W1155*	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	26	3942	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	1155					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Nonsense_Mutation	SNP	ENST00000294724.4	37	c.3464G>A	CCDS759.1	.	.	.	.	.	.	.	.	.	.	G	44	10.829786	0.99474	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9375	0.97146	0.0:0.0:1.0:0.0	.	.	.	.	X	1155;1155;1155;1155;1139;1139;1138	.	ENSP00000294724:W1155X	W	+	2	0	AGL	100138881	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.717000	0.92951	0.650000	0.86243	TGG		0.428	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		5	329	0	0	0	1	0	5	329					A	100366293	G	A	100366293	4	1	168	1	0	0	0	0	0	1	0	0	384	1357	47	2	3631	2	AGL	1	100366293	Nonsense_Mutation	SNP	G	TCGA-E3-A3E1-01A-11D-A20C-08	61956800	100366293	148884328	2	3539											
S100A7	6278	broad.mit.edu	37	chr1	153430314	153430314	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccggaacagggcgctgctcCatggctctgcttgtggtagt	14	12	1	0			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr1:153430314C>G	ENST00000368723.3	-	3	384	c.274G>C	c.(274-276)Gga>Cga	p.G92R	S100A7_ENST00000368722.1_Missense_Mutation_p.G92R	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	92					angiogenesis (GO:0001525)|defense response to Gram-negative bacterium (GO:0050829)|epidermis development (GO:0008544)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of granulocyte chemotaxis (GO:0071624)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of T cell chemotaxis (GO:0010820)|response to lipopolysaccharide (GO:0032496)|response to reactive oxygen species (GO:0000302)|sequestering of metal ion (GO:0051238)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|RAGE receptor binding (GO:0050786)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCGCTGCTCCATGGCTCTGC	0.517																																						ENST00000368723.3																			0				breast(1)|large_intestine(2)|lung(5)|skin(2)	10						c.(274-276)Gga>Cga		S100 calcium binding protein A7							80	75	76					1																	153430314		2203	4300	6503	SO:0001583	missense	6278				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding	g.chr1:153430314C>G	BC034687	CCDS1039.1	1q21	2013-01-10	2006-09-11		ENSG00000143556	ENSG00000143556		"S100 calcium binding proteins", "EF-hand domain containing"	10497	protein-coding gene	gene with protein product		600353	"S100 calcium-binding protein A7 (psoriasin 1)", "S100 calcium binding protein A7 (psoriasin 1)"	PSOR1		1940442	Standard	NM_002963		Approved	S100A7c	uc001fbv.1	P31151	OTTHUMG00000013123	ENST00000368723.3:c.274G>C	1.37:g.153430314C>G	ENSP00000357712:p.Gly92Arg					S100A7_ENST00000368722.1_Missense_Mutation_p.G92R	p.G92R	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	384	-	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		92					Q5SY67|Q6FGE3|Q9H1E2	Missense_Mutation	SNP	ENST00000368723.3	37	c.274G>C	CCDS1039.1	.	.	.	.	.	.	.	.	.	.	.	11.42	1.634784	0.29068	.	.	ENSG00000143556	ENST00000368723;ENST00000368722	T;T	0.05996	3.36;3.36	2.15	1.23	0.21249	EF-hand-like domain (1);	.	.	.	.	T	0.03178	0.0093	L	0.35593	1.075	0.09310	N	1	D	0.76494	0.999	D	0.64042	0.921	T	0.27673	-1.0067	9	0.10377	T	0.69	.	4.7966	0.13276	0.0:0.8155:0.0:0.1845	.	92	P31151	S10A7_HUMAN	R	92	ENSP00000357712:G92R;ENSP00000357711:G92R	ENSP00000357711:G92R	G	-	1	0	S100A7	151696938	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-1.026000	0.03596	0.486000	0.27676	0.194000	0.17425	GGA		0.517	S100A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036789.1	NM_002963		4	121	0	0	0	1	0	4	121					G	153430314	C	G	153430314	3	3	168	1	0	0	0	0	1	0	0	0	13783	603	21	4	35	4	S100A7	1	153430314	Missense_Mutation	SNP	C	TCGA-E3-A3E1-01A-11D-A20C-08	53064021	153430314	95820307	3	3540											
FBXO41	150726	broad.mit.edu	37	chr2	73486158	73486158	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaatcttagagaagccgggCctccgtcgcagagcctgcgg	14	12	1	3	rs200807832	byFrequency	TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr2:73486158C>T	ENST00000521871.1	-	13	2995	c.2580G>A	c.(2578-2580)agG>agA	p.R860R	FBXO41_ENST00000520530.2_Silent_p.R860R|FBXO41_ENST00000295133.5_Silent_p.R921R			Q8TF61	FBX41_HUMAN	F-box protein 41	860										breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						AGAAGCCGGGCCTCCGTCGCA	0.677													C|||	3	0.000599042	0	0	5008	,	,		15791	0		0.003	False		,,,				2504	0					ENST00000521871.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						c.(2578-2580)agG>agA		F-box protein 41		C		1,3875		0,1,1937	24	29	27		2580	2.1	1.0	2		27	16,8184		0,16,4084	no	coding-synonymous	FBXO41	NM_001080410.2		0,17,6021	TT,TC,CC		0.1951,0.0258,0.1408		860/876	73486158	17,12059	1938	4100	6038	SO:0001819	synonymous_variant	150726					intracellular	protein binding|zinc ion binding	g.chr2:73486158C>T	AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"F-boxes /  "other""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.2580G>A	2.37:g.73486158C>T						FBXO41_ENST00000520530.2_Silent_p.R860R|FBXO41_ENST00000295133.5_Silent_p.R921R	p.R860R			Q8TF61	FBX41_HUMAN			13	2995	-			860					G3V0Z7|Q2M1V8	Silent	SNP	ENST00000521871.1	37	c.2580G>A	CCDS46337.2																																																																																				0.677	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377381.1			4	7	0	0	0	1	0	4	7					T	73486158	C	T	73486158	2	4	168	1	0	0	0	0	0	0	0	1	5750	738	26	2		2	FBXO41	2	73486158	Silent	SNP	C	TCGA-E3-A3E1-01A-11D-A20C-08		73486158	169713215	4	3541											
VWA3B	200403	broad.mit.edu	37	chr2	98750306	98750306	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gattccacgcatttgccgagAgaacagagtgtgtagaattt	11	7	0	3			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr2:98750306A>G	ENST00000477737.1	+	7	1096	c.892A>G	c.(892-894)Aga>Gga	p.R298G	VWA3B_ENST00000435344.1_Missense_Mutation_p.R298G|VWA3B_ENST00000451075.2_Missense_Mutation_p.R148G	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	298										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						ATTTGCCGAGAGAACAGAGTG	0.473																																						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.(892-894)Aga>Gga		von Willebrand factor A domain containing 3B							290	275	280					2																	98750306		2072	4220	6292	SO:0001583	missense	200403							g.chr2:98750306A>G	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.892A>G	2.37:g.98750306A>G	ENSP00000417955:p.Arg298Gly					VWA3B_ENST00000451075.2_Missense_Mutation_p.R148G|VWA3B_ENST00000435344.1_Missense_Mutation_p.R298G	p.R298G	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			7	1096	+			298					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.892A>G	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	A	12.49	1.954602	0.34471	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.15372	7.41;7.41;2.43	5.66	4.48	0.54585	.	0.084795	0.48286	D	0.000192	T	0.31638	0.0803	L	0.54323	1.7	0.27265	N	0.958533	D;D;D	0.65815	0.965;0.995;0.99	P;P;P	0.61658	0.468;0.718;0.892	T	0.08827	-1.0703	10	0.72032	D	0.01	.	10.6797	0.45807	0.8396:0.1604:0.0:0.0	.	148;298;298	B7Z7Q7;Q502W6;Q502W6-8	.;VWA3B_HUMAN;.	G	298;298;148	ENSP00000401959:R298G;ENSP00000417955:R298G;ENSP00000389463:R148G	ENSP00000411168:R298G	R	+	1	2	VWA3B	98116738	1.000000	0.71417	1.000000	0.80357	0.132000	0.20833	2.731000	0.47343	0.937000	0.37394	0.533000	0.62120	AGA		0.473	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		5	323	0	0	0	1	0	5	323					G	98750306	A	G	98750306	3	3	168	1	0	0	0	0	1	0	0	0	17238	296	11	3	914	3	VWA3B	2	98750306	Missense_Mutation	SNP	A	TCGA-E3-A3E1-01A-11D-A20C-08	25264148	98750306	144449067	5	3542											
ANKRD57	65124	broad.mit.edu	37	chr2	110373405	110373405	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accatcaccactcggctgagGggtgggtcggaggcaaagcc	15	12	1	1			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr2:110373405G>T	ENST00000356454.3	+	1	1495	c.1339G>T	c.(1339-1341)Ggg>Tgg	p.G447W	SEPT10_ENST00000356688.4_5'Flank|SEPT10_ENST00000415095.1_5'Flank|SEPT10_ENST00000437928.1_5'Flank|SEPT10_ENST00000397714.2_5'Flank|SEPT10_ENST00000545389.1_5'Flank|SEPT10_ENST00000397712.2_5'Flank|SEPT10_ENST00000334001.6_5'Flank	NM_023016.3	NP_075392.2	Q53LP3	SWAHC_HUMAN	sosondowah ankyrin repeat domain family member C	447																	CTCGGCTGAGGGGTGGGTCGG	0.552																																						ENST00000356454.3																			0											c.(1339-1341)Ggg>Tgg		sosondowah ankyrin repeat domain family member C							54	56	56					2																	110373405		2203	4300	6503	SO:0001583	missense	65124							g.chr2:110373405G>T	AK023346	CCDS33270.1	2q13	2013-01-10	2012-01-12	2012-01-12	ENSG00000198142	ENSG00000198142		"Ankyrin repeat domain containing"	26149	protein-coding gene	gene with protein product			"ankyrin repeat domain 57"	C2orf26, ANKRD57		22234889	Standard	NM_023016		Approved	FLJ21870	uc002tfb.3	Q53LP3	OTTHUMG00000153219	ENST00000356454.3:c.1339G>T	2.37:g.110373405G>T	ENSP00000365830:p.Gly447Trp						p.G447W	NM_023016.3	NP_075392.2	Q53LP3	ANR57_HUMAN			1	1495	+			447					Q8NE15|Q9H6U1	Missense_Mutation	SNP	ENST00000356454.3	37	c.1339G>T	CCDS33270.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.637643	0.47049	.	.	ENSG00000198142	ENST00000356454	T	0.49432	0.78	4.69	4.69	0.59074	.	.	.	.	.	T	0.51466	0.1676	N	0.24115	0.695	0.26446	N	0.975682	D	0.69078	0.997	P	0.61328	0.887	T	0.45041	-0.9288	9	0.72032	D	0.01	-7.7176	12.7041	0.57051	0.0:0.1655:0.8345:0.0	.	447	Q53LP3	ANR57_HUMAN	W	447	ENSP00000365830:G447W	ENSP00000365830:G447W	G	+	1	0	ANKRD57	109730694	0.962000	0.33011	0.163000	0.22734	0.057000	0.15508	2.096000	0.41738	2.446000	0.82766	0.556000	0.70494	GGG		0.552	SOWAHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330168.1	NM_023016		3	82	1	0	0.115264	1	0.122044	3	82					T	110373405	G	T	110373405	3	4	168	1	0	0	0	0	1	0	0	0	683	1232	43	4	1341	4	ANKRD57	2	110373405	Missense_Mutation	SNP	G	TCGA-E3-A3E1-01A-11D-A20C-08	11623099	110373405	132825968	6	3543											
PKP4	8502	broad.mit.edu	37	chr2	159477861	159477861	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggcagacaacagacagcaGcattcattcataggatcaac	8	10	3	2			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr2:159477861G>A	ENST00000389759.3	+	6	643	c.531G>A	c.(529-531)caG>caA	p.Q177Q	PKP4_ENST00000389757.3_Silent_p.Q177Q	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	177					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						ACAGACAGCAGCATTCATTCA	0.453										HNSCC(62;0.18)																												ENST00000389757.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						c.(529-531)caG>caA		plakophilin 4							129	108	115					2																	159477861		2203	4300	6503	SO:0001819	synonymous_variant	8502				cell adhesion	desmosome	protein binding	g.chr2:159477861G>A	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"Armadillo repeat containing"	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.531G>A	2.37:g.159477861G>A		HNSCC(62;0.18)				PKP4_ENST00000389759.3_Silent_p.Q177Q	p.Q177Q	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN			6	656	+			177					Q86W91	Silent	SNP	ENST00000389759.3	37	c.531G>A	CCDS33305.1																																																																																				0.453	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			3	100	0	0	0	1	0	3	100					A	159477861	G	A	159477861	2	1	168	1	0	0	0	0	0	0	0	1	11987	962	34	2		2	PKP4	2	159477861	Silent	SNP	G	TCGA-E3-A3E1-01A-11D-A20C-08	49104456	159477861	83721512	7	3544											
TTN	7273	broad.mit.edu	37	chr2	179454215	179454218	+	Frame_Shift_Del	DEL	TTTG	TTTG	-													cactttccccaccttcattcTttgtttgcactctgaactca							TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr2:179454215_179454218delTTTG	ENST00000591111.1	-	254	57535_57538	c.57311_57314delCAAA	c.(57310-57315)acaaagfs	p.TK19104fs	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.TK11872fs|TTN_ENST00000359218.5_Frame_Shift_Del_p.TK11805fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.TK18177fs|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.TK11680fs|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.TK20745fs|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19104	Fibronectin type-III 38. {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)			ACCTTCATTCTTTGTTTGCACTCT	0.402																																						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.(62233-62238)agfs		titin																																				SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179454215_179454218delTTTG	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.57311_57314delCAAA	2.37:g.179454219_179454222delTTTG	ENSP00000465570:p.Thr19104fs					TTN_ENST00000359218.5_Frame_Shift_Del_p.TK11805fs|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.TK18177fs|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.TK19104fs|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.TK11872fs|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.TK11680fs|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA	p.TK20745fs	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)		304	62458_62461	-			19104			Fibronectin type-III 50.		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	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.62234_62237delCAAA																																																																																					0.402	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	35						10	35	---	---	---	---	-	179454218	TTTG	-	179454215	7	5	168	1	0	1	0	1	0	0	0	0	16732	1609	56	0	45978	0	TTN	2	179454215	Frame_Shift_Del	DEL	TTTG	TCGA-E3-A3E1-01A-11D-A20C-08	19976354	179454215	63745158	8	3545											
DBN1	1627	broad.mit.edu	37	chr5	176886214	176886214	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggtgctggagtcagacggGctccgcgtggggatgggagt	21	8	1	1			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr5:176886214G>A	ENST00000309007.5	-	11	1230	c.1011C>T	c.(1009-1011)agC>agT	p.S337S	DBN1_ENST00000292385.5_Silent_p.S339S|DBN1_ENST00000393563.4_Silent_p.S69S|DBN1_ENST00000512501.1_Silent_p.S69S|DBN1_ENST00000393565.1_Silent_p.S383S	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	337					actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	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)			AGTCAGACGGGCTCCGCGTGG	0.697																																						ENST00000292385.5																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25						c.(1015-1017)agC>agT		drebrin 1							76	78	77					5																	176886214		2203	4300	6503	SO:0001819	synonymous_variant	1627				actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding	g.chr5:176886214G>A		CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.1011C>T	5.37:g.176886214G>A						DBN1_ENST00000512501.1_Silent_p.S69S|DBN1_ENST00000393565.1_Silent_p.S383S|DBN1_ENST00000309007.5_Silent_p.S337S|DBN1_ENST00000393563.4_Silent_p.S69S	p.S339S	NM_080881.2	NP_543157.1	Q16643	DREB_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		12	1626	-	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	337					A8MV58|B2RBG0|Q9UFZ5	Silent	SNP	ENST00000309007.5	37	c.1017C>T	CCDS4420.1																																																																																				0.697	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2	NM_080881		4	215	0	0	0	1	0	4	215					A	176886214	G	A	176886214	2	1	168	1	0	0	0	0	0	0	0	1	4252	1194	42	2		2	DBN1	5	176886214	Silent	SNP	G	TCGA-E3-A3E1-01A-11D-A20C-08		176886214	4029046	9	3546											
ABCB4	5244	broad.mit.edu	37	chr7	87031478	87031478	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atgcctttctgtgccagcagCtgctgatgcgtgccatgctc	11	13	1	1			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr7:87031478C>G	ENST00000265723.4	-	28	3906	c.3795G>C	c.(3793-3795)caG>caC	p.Q1265H	ABCB4_ENST00000358400.3_Missense_Mutation_p.Q1211H|ABCB4_ENST00000359206.3_Missense_Mutation_p.Q1258H|ABCB4_ENST00000545634.1_Missense_Mutation_p.Q1258H|ABCB4_ENST00000453593.1_Missense_Mutation_p.Q1211H	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1265	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	GTGCCAGCAGCTGCTGATGCG	0.443																																						ENST00000265723.4																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(3793-3795)caG>caC		ATP-binding cassette, sub-family B (MDR/TAP), member 4							131	124	126					7																	87031478		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87031478C>G	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.3795G>C	7.37:g.87031478C>G	ENSP00000265723:p.Gln1265His					ABCB4_ENST00000545634.1_Missense_Mutation_p.Q1258H|ABCB4_ENST00000359206.3_Missense_Mutation_p.Q1258H|ABCB4_ENST00000358400.3_Missense_Mutation_p.Q1211H|ABCB4_ENST00000453593.1_Missense_Mutation_p.Q1211H	p.Q1265H	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN			28	3906	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		1265			ABC transporter 2.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.3795G>C	CCDS5606.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.48|19.48	3.834694|3.834694	0.71373|0.71373	.|.	.|.	ENSG00000005471|ENSG00000005471	ENST00000440025|ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	.|T;T;T;T;T	.|0.68479	.|-0.33;-0.33;-0.33;-0.33;-0.33	5.3|5.3	5.3|5.3	0.74995|0.74995	.|ABC transporter-like (1);	.|0.057053	.|0.64402	.|D	.|0.000001	T|T	0.77618|0.77618	0.4157|0.4157	L|L	0.45051|0.45051	1.395|1.395	0.80722|0.80722	D|D	1|1	.|B;D;D	.|0.76494	.|0.366;0.999;0.999	.|B;D;D	.|0.72982	.|0.098;0.979;0.954	T|T	0.79329|0.79329	-0.1848|-0.1848	5|10	.|0.87932	.|D	.|0	-10.3598|-10.3598	19.3068|19.3068	0.94165|0.94165	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1211;1258;1265	.|A4D1D5;P21439-2;P21439	.|.;.;MDR3_HUMAN	P|H	70|1258;1211;1265;1211;1258	.|ENSP00000352135:Q1258H;ENSP00000351172:Q1211H;ENSP00000265723:Q1265H;ENSP00000392983:Q1211H;ENSP00000437465:Q1258H	.|ENSP00000265723:Q1265H	A|Q	-|-	1|3	0|2	ABCB4|ABCB4	86869414|86869414	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.925000|0.925000	0.55904|0.55904	1.672000|1.672000	0.37523|0.37523	2.626000|2.626000	0.88956|0.88956	0.655000|0.655000	0.94253|0.94253	GCT|CAG		0.443	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		5	185	0	0	0	1	0	5	185					G	87031478	C	G	87031478	3	3	168	1	0	0	0	0	1	0	0	0	43	796	28	4	69	4	ABCB4	7	87031478	Missense_Mutation	SNP	C	TCGA-E3-A3E1-01A-11D-A20C-08		87031478	72107185	10	3547											
ORAI2	80228	broad.mit.edu	37	chr7	102087134	102087134	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acatccacaacctgaactccAtcagcgagtccccgcatgag	7	16	1	2			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr7:102087134A>T	ENST00000356387.2	+	4	635	c.400A>T	c.(400-402)Atc>Ttc	p.I134F	ORAI2_ENST00000403646.3_Missense_Mutation_p.I134F|ORAI2_ENST00000473939.1_Missense_Mutation_p.I134F|ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000478730.2_Missense_Mutation_p.I134F	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2	134						growth cone (GO:0030426)|integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						CCTGAACTCCATCAGCGAGTC	0.627																																						ENST00000356387.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						c.(400-402)Atc>Ttc		ORAI calcium release-activated calcium modulator 2							180	151	161					7																	102087134		2203	4300	6503	SO:0001583	missense	80228					integral to membrane	protein binding	g.chr7:102087134A>T	AF258552	CCDS5722.1	7q22.1	2007-08-14	2007-08-14	2007-08-14	ENSG00000160991	ENSG00000160991		"ORAI calcium release-activated calcium modulators"	21667	protein-coding gene	gene with protein product	"CAP-binding protein complex interacting protein 2"	610929	"chromosome 7 open reading frame 19", "transmembrane protein 142B"	C7orf19, TMEM142B		16582901	Standard	NM_001126340		Approved	CBCIP2, FLJ12474, FLJ14733, H_NH0514P08.8	uc003uzj.3	Q96SN7	OTTHUMG00000157722	ENST00000356387.2:c.400A>T	7.37:g.102087134A>T	ENSP00000348752:p.Ile134Phe					ORAI2_ENST00000473939.1_Missense_Mutation_p.I134F|ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000478730.1_Missense_Mutation_p.I134F|ORAI2_ENST00000403646.3_Missense_Mutation_p.I134F	p.I134F	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN			4	635	+			134					Q6IA68|Q8WY94|Q9H9Y3	Missense_Mutation	SNP	ENST00000356387.2	37	c.400A>T	CCDS5722.1	.	.	.	.	.	.	.	.	.	.	A	16.18	3.051499	0.55218	.	.	ENSG00000160991	ENST00000495936;ENST00000356387;ENST00000478730;ENST00000468241;ENST00000403646;ENST00000473939	T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95	5.41	5.41	0.78517	.	0.163707	0.51477	D	0.000093	T	0.31765	0.0807	N	0.22421	0.69	0.58432	D	0.999991	P	0.38250	0.624	B	0.40444	0.329	T	0.21245	-1.0251	10	0.87932	D	0	-13.2426	9.1877	0.37180	0.9195:0.0:0.0805:0.0	.	134	Q96SN7	ORAI2_HUMAN	F	134	ENSP00000420178:I134F;ENSP00000348752:I134F;ENSP00000418140:I134F;ENSP00000417407:I134F;ENSP00000385489:I134F;ENSP00000417928:I134F	ENSP00000348752:I134F	I	+	1	0	ORAI2	101874139	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	6.159000	0.71856	2.062000	0.61559	0.459000	0.35465	ATC		0.627	ORAI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349509.2	NM_032831		5	230	0	0	0	1	0	5	230					T	102087134	A	T	102087134	3	4	168	1	0	0	0	0	1	0	0	0	11258	217	8	5	406	5	ORAI2	7	102087134	Missense_Mutation	SNP	A	TCGA-E3-A3E1-01A-11D-A20C-08	15055656	102087134	57051529	11	3548											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		42	64	0	0	0	1	0	42	64					T	140453136	A	T	140453136	3	4	168	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E3-A3E1-01A-11D-A20C-08	38366002	140453136	18685527	12	3549											
CSMD3	114788	broad.mit.edu	37	chr8	113988206	113988206	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggtccagacctgaatttctgAgactcgtaacttgcactcgc	9	12	1	3			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr8:113988206A>T	ENST00000297405.5	-	7	1446	c.1202T>A	c.(1201-1203)cTc>cAc	p.L401H	CSMD3_ENST00000343508.3_Missense_Mutation_p.L361H|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.L401H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	401						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						TGAATTTCTGAGACTCGTAAC	0.498										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.(1201-1203)cTc>cAc		CUB and Sushi multiple domains 3							216	189	198					8																	113988206		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113988206A>T	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.1202T>A	8.37:g.113988206A>T	ENSP00000297405:p.Leu401His	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.L401H|CSMD3_ENST00000343508.3_Missense_Mutation_p.L361H|CSMD3_ENST00000455883.2_Intron	p.L401H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			7	1446	-			401					Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.1202T>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	14.24	2.477175	0.44044	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000352409	T;T;T	0.21361	2.02;2.01;2.01	6.17	6.17	0.99709	.	0.464404	0.17492	N	0.172308	T	0.14270	0.0345	N	0.22421	0.69	0.27109	N	0.962432	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.21518	-1.0243	10	0.15066	T	0.55	.	11.8437	0.52371	0.8695:0.0:0.0:0.1305	.	401;361	Q7Z407;Q7Z407-2	CSMD3_HUMAN;.	H	361;401;401	ENSP00000345799:L361H;ENSP00000297405:L401H;ENSP00000343124:L401H	ENSP00000297405:L401H	L	-	2	0	CSMD3	114057382	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.546000	0.60705	2.371000	0.80710	0.533000	0.62120	CTC		0.498	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		4	153	0	0	0	1	0	4	153					T	113988206	A	T	113988206	3	4	168	1	0	0	0	0	1	0	0	0	3946	304	11	5	10181	5	CSMD3	8	113988206	Missense_Mutation	SNP	A	TCGA-E3-A3E1-01A-11D-A20C-08		113988206	32375816	13	3550											
INTS5	80789	broad.mit.edu	37	chr11	62414648	62414648	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagaagtcccgaatgaaGcgaccccgctctgattggaa	12	11	1	3			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr11:62414648G>A	ENST00000330574.2	-	2	2956	c.2904C>T	c.(2902-2904)cgC>cgT	p.R968R	GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000534779.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	968					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CCCGAATGAAGCGACCCCGCT	0.597																																						ENST00000330574.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						c.(2902-2904)cgC>cgT		integrator complex subunit 5							127	126	127					11																	62414648		2202	4299	6501	SO:0001819	synonymous_variant	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62414648G>A	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"KIAA1698"	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.2904C>T	11.37:g.62414648G>A							p.R968R	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN			2	2956	-			968					Q8N6W5|Q9C0G5	Silent	SNP	ENST00000330574.2	37	c.2904C>T	CCDS8027.1																																																																																				0.597	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		5	171	0	0	0	1	0	5	171					A	62414648	G	A	62414648	2	1	168	1	0	0	0	0	0	0	0	1	7781	958	34	2		2	INTS5	11	62414648	Silent	SNP	G	TCGA-E3-A3E1-01A-11D-A20C-08		62414648	72591868	14	3551											
NCAPD3	23310	broad.mit.edu	37	chr11	134029936	134029936	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tttgtcaactgcaaagaagtCcttgagctcatctcggtaat	8	9	3	2			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr11:134029936C>G	ENST00000534548.2	-	29	3782	c.3718G>C	c.(3718-3720)Gac>Cac	p.D1240H		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1240					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)		GCAAAGAAGTCCTTGAGCTCA	0.473																																						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.(3718-3720)Gac>Cac		non-SMC condensin II complex, subunit D3							134	120	125					11																	134029936		2201	4297	6498	SO:0001583	missense	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134029936C>G	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.3718G>C	11.37:g.134029936C>G	ENSP00000433681:p.Asp1240His						p.D1240H	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)	29	3782	-	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)	1240					A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	c.3718G>C	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793781	0.90453	.	.	ENSG00000151503	ENST00000534548;ENST00000527944	T;T	0.65364	-0.15;-0.15	5.36	5.36	0.76844	Armadillo-type fold (1);	0.252260	0.45126	D	0.000385	T	0.79191	0.4404	M	0.74647	2.275	0.80722	D	1	D;D	0.76494	0.997;0.999	P;D	0.65987	0.868;0.94	T	0.81031	-0.1117	10	0.72032	D	0.01	-16.7747	19.4536	0.94878	0.0:1.0:0.0:0.0	.	1240;300	P42695;Q96FA6	CNDD3_HUMAN;.	H	1240;145	ENSP00000433681:D1240H;ENSP00000432532:D145H	ENSP00000432532:D145H	D	-	1	0	NCAPD3	133535146	1.000000	0.71417	0.989000	0.46669	0.923000	0.55619	7.776000	0.85560	2.648000	0.89879	0.655000	0.94253	GAC		0.473	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		6	98	0	0	0	1	0	6	98					G	134029936	C	G	134029936	3	3	168	1	0	0	0	0	1	0	0	0	10206	855	30	4	806	4	NCAPD3	11	134029936	Missense_Mutation	SNP	C	TCGA-E3-A3E1-01A-11D-A20C-08	71615288	134029936	976580	15	3552											
ZC3H13	23091	broad.mit.edu	37	chr13	46619560	46619560	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagtgctgggtccaagcctcTcaaatacactgggtcttcgg	11	12	2	0			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr13:46619560T>A	ENST00000242848.4	-	2	431	c.83A>T	c.(82-84)gAg>gTg	p.E28V	ZC3H13_ENST00000282007.3_Missense_Mutation_p.E28V			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	28							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCCAAGCCTCTCAAATACACT	0.403																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(82-84)gAg>gTg		zinc finger CCCH-type containing 13							213	225	221					13																	46619560		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46619560T>A	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.83A>T	13.37:g.46619560T>A	ENSP00000242848:p.Glu28Val					ZC3H13_ENST00000282007.3_Missense_Mutation_p.E28V	p.E28V			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	2	431	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	28					A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.83A>T		.	.	.	.	.	.	.	.	.	.	T	14.76	2.630479	0.46944	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000428921	T;T	0.55930	1.53;0.49	5.5	5.5	0.81552	.	0.000000	0.56097	D	0.000030	T	0.54695	0.1874	N	0.08118	0	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	T	0.65899	-0.6056	10	0.87932	D	0	.	15.6151	0.76760	0.0:0.0:0.0:1.0	.	28;28	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	V	28	ENSP00000242848:E28V;ENSP00000282007:E28V	ENSP00000242848:E28V	E	-	2	0	ZC3H13	45517561	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.579000	0.82511	2.096000	0.63516	0.477000	0.44152	GAG		0.403	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		7	250	0	0	0	1	0	7	250					A	46619560	T	A	46619560	3	1	168	1	0	0	0	0	1	0	0	0	17562	1551	54	5	4675	5	ZC3H13	13	46619560	Missense_Mutation	SNP	T	TCGA-E3-A3E1-01A-11D-A20C-08		46619560	68550318	16	3553											
KLF5	688	broad.mit.edu	37	chr13	73649937	73649937	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactaccggaagcacacaggCgccaagcccttccagtgcgg	11	16	0	0			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr13:73649937C>A	ENST00000377687.4	+	4	1823	c.1287C>A	c.(1285-1287)ggC>ggA	p.G429G	KLF5_ENST00000539231.1_Silent_p.G338G	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	429					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	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 positive regulation of transcription (GO:0001077)			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		AGCACACAGGCGCCAAGCCCT	0.607																																						ENST00000377687.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1285-1287)ggC>ggA		Kruppel-like factor 5 (intestinal)							79	78	78					13																	73649937		2203	4300	6503	SO:0001819	synonymous_variant	688				transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr13:73649937C>A	D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.1287C>A	13.37:g.73649937C>A						KLF5_ENST00000539231.1_Silent_p.G338G	p.G429G	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN		GBM - Glioblastoma multiforme(99;0.0011)	4	1823	+		Prostate(6;0.00187)|Breast(118;0.0735)	429					L0R3U5|L0R4T9|Q9UHP8	Silent	SNP	ENST00000377687.4	37	c.1287C>A	CCDS9448.1																																																																																				0.607	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045263.1			3	66	1	0	0.150653	1	0.154958	3	66					A	73649937	C	A	73649937	2	1	168	1	0	0	0	0	0	0	0	1	8349	755	27	4		4	KLF5	13	73649937	Silent	SNP	C	TCGA-E3-A3E1-01A-11D-A20C-08	27030377	73649937	41519941	17	3554											
EPB42	2038	broad.mit.edu	37	chr15	43489545	43489545	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acggtgacgcttttatagttGgttaggttctggaacatgtt	12	5	1	1			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr15:43489545G>T	ENST00000441366.2	-	13	2256	c.2031C>A	c.(2029-2031)acC>acA	p.T677T	EPB42_ENST00000563128.1_Intron|EPB42_ENST00000300215.3_Silent_p.T707T|EPB42_ENST00000540029.1_Silent_p.T599T	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	677					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TTTTATAGTTGGTTAGGTTCT	0.483																																						ENST00000300215.3																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(2119-2121)acC>acA		erythrocyte membrane protein band 4.2							159	122	135					15																	43489545		2203	4299	6502	SO:0001819	synonymous_variant	2038				erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	g.chr15:43489545G>T	M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"Transglutaminases"	3381	protein-coding gene	gene with protein product	"Erythrocyte surface protein band 4.2"	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.2031C>A	15.37:g.43489545G>T						EPB42_ENST00000540029.1_Silent_p.T599T|EPB42_ENST00000563128.1_Intron|EPB42_ENST00000441366.2_Silent_p.T677T	p.T707T			P16452	EPB42_HUMAN		GBM - Glioblastoma multiforme(94;8.7e-07)	13	2578	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	677					Q4KKX0|Q4VB97	Silent	SNP	ENST00000441366.2	37	c.2121C>A	CCDS45249.1																																																																																				0.483	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		3	70	1	0	1	1	1	3	70					T	43489545	G	T	43489545	2	4	168	1	0	0	0	0	0	0	0	1	5158	1335	47	4		4	EPB42	15	43489545	Silent	SNP	G	TCGA-E3-A3E1-01A-11D-A20C-08		43489545	59041847	18	3555											
SLC24A1	9187	broad.mit.edu	37	chr15	65943130	65943130	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaagagcaggaggaagaGgaggaggaggaggaggaaga	23	1	0	3			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr15:65943130G>A	ENST00000261892.6	+	7	2930	c.2643G>A	c.(2641-2643)gaG>gaA	p.E881E	SLC24A1_ENST00000544319.2_Silent_p.E767E|SLC24A1_ENST00000537259.1_Silent_p.E863E|SLC24A1_ENST00000399033.4_Silent_p.E881E|SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000546330.1_Silent_p.E863E|SLC24A1_ENST00000339868.6_Silent_p.E863E	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	881	Poly-Glu.				calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						aggaggaagaggaggaggagg	0.562																																						ENST00000261892.6																			0				breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(2641-2643)gaG>gaA		solute carrier family 24 (sodium/potassium/calcium exchanger), member 1							37	42	40					15																	65943130		2191	4285	6476	SO:0001819	synonymous_variant	9187				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	g.chr15:65943130G>A	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"Solute carriers"	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.2643G>A	15.37:g.65943130G>A						SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000546330.1_Silent_p.E863E|SLC24A1_ENST00000537259.1_Silent_p.E863E|SLC24A1_ENST00000399033.4_Silent_p.E881E|SLC24A1_ENST00000544319.2_Silent_p.E767E|SLC24A1_ENST00000339868.6_Silent_p.E863E	p.E881E	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN			7	2930	+			881			Poly-Glu.		O43485|O75184|Q17RM9	Silent	SNP	ENST00000261892.6	37	c.2643G>A	CCDS45284.1																																																																																				0.562	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727		3	23	0	0	0	1	0	3	23					A	65943130	G	A	65943130	2	1	168	1	0	0	0	0	0	0	0	1	14465	991	35	2		2	SLC24A1	15	65943130	Silent	SNP	G	TCGA-E3-A3E1-01A-11D-A20C-08	22453585	65943130	36588262	19	3556											
MSLNL	401827	broad.mit.edu	37	chr16	823129	823129	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccacagcccagccgtgcacCtgtgcgagcttggccttgac	11	17	0	1			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr16:823129C>G	ENST00000442466.1	-	9	1085	c.1086G>C	c.(1084-1086)caG>caC	p.Q362H	MIR662_ENST00000384847.1_RNA|MSLNL_ENST00000293892.3_Splice_Site_p.Q713H			Q96KJ4	MSLNL_HUMAN	mesothelin-like	362					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						AGCCGTGCACCTGTGCGAGCT	0.657																																						ENST00000293892.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						c.e10+1		mesothelin-like							48	58	55					16																	823129		2101	4219	6320	SO:0001630	splice_region_variant	401827				cell adhesion	integral to membrane		g.chr16:823129C>G			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 37"	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.1086+1G>C	16.37:g.823129C>G						MSLNL_ENST00000442466.1_Splice_Site_p.Q362_splice	p.Q713_splice			Q96KJ4	MSLNL_HUMAN			10	2138	-			362						Splice_Site	SNP	ENST00000442466.1	37	c.2139_splice		.	.	.	.	.	.	.	.	.	.	C	14.71	2.615879	0.46631	.	.	ENSG00000162006	ENST00000543963;ENST00000442466;ENST00000293892	T;T;T	0.11712	2.75;2.75;2.75	4.19	4.19	0.49359	.	0.440276	0.21575	N	0.072341	T	0.24774	0.0601	.	.	.	0.46131	D	0.998886	D	0.62365	0.991	P	0.59288	0.855	T	0.00609	-1.1646	8	.	.	.	-9.6093	13.6881	0.62529	0.0:1.0:0.0:0.0	.	362	Q96KJ4	MSLNL_HUMAN	H	412;362;713	ENSP00000441381:Q412H;ENSP00000415767:Q362H;ENSP00000293892:Q713H	.	Q	-	3	2	MSLNL	763130	0.276000	0.24211	0.846000	0.33378	0.107000	0.19398	2.122000	0.41987	2.323000	0.78572	0.543000	0.68304	CAG		0.657	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190	Missense_Mutation	6	102	0	0	0	1	0	6	102					G	823129	C	G	823129	5	3	168	1	0	0	0	0	0	0	1	0	9882	695	24	4	1050	4	MSLNL	16	823129	Splice_Site	SNP	C	TCGA-E3-A3E1-01A-11D-A20C-08		823129	89531624	20	3557											
ZZEF1	23140	broad.mit.edu	37	chr17	4020293	4020293	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cttttgtaccagctgatccaGagactccttcaggacggaag	10	11	1	2			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr17:4020293G>C	ENST00000381638.2	-	3	791	c.667C>G	c.(667-669)Ctg>Gtg	p.L223V	snoU13_ENST00000459263.1_RNA|ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	223							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AGCTGATCCAGAGACTCCTTC	0.512																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(667-669)Ctg>Gtg		zinc finger, ZZ-type with EF-hand domain 1							233	222	226					17																	4020293		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:4020293G>C	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.667C>G	17.37:g.4020293G>C	ENSP00000371051:p.Leu223Val					ZZEF1_ENST00000574474.1_5'UTR	p.L223V	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			3	791	-			223					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.667C>G	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684100	0.68157	.	.	ENSG00000074755	ENST00000381638	T	0.63580	-0.05	5.87	3.89	0.44902	Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000001	T	0.72566	0.3476	M	0.62723	1.935	0.48395	D	0.999645	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.72388	-0.4309	10	0.87932	D	0	-9.4864	7.0836	0.25245	0.3673:0.0:0.6327:0.0	.	223;223	O43149-3;O43149	.;ZZEF1_HUMAN	V	223	ENSP00000371051:L223V	ENSP00000371051:L223V	L	-	1	2	ZZEF1	3967042	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	1.541000	0.36126	0.827000	0.34685	0.591000	0.81541	CTG		0.512	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		17	322	0	0	0	1	0	17	322					C	4020293	G	C	4020293	3	2	168	1	0	0	0	0	1	0	0	0	18252	933	33	4	8430	4	ZZEF1	17	4020293	Missense_Mutation	SNP	G	TCGA-E3-A3E1-01A-11D-A20C-08		4020293	77174917	21	3558											
GPR142	350383	broad.mit.edu	37	chr17	72366698	72366698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgctgcccacgccccacGtcagcgggctgagccaggag	13	18	1	1			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr17:72366698G>A	ENST00000335666.4	+	3	445	c.397G>A	c.(397-399)Gtc>Atc	p.V133I		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	133						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CACGCCCCACGTCAGCGGGCT	0.617																																						ENST00000335666.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						c.(397-399)Gtc>Atc		G protein-coupled receptor 142							65	54	57					17																	72366698		2203	4300	6503	SO:0001583	missense	350383					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	g.chr17:72366698G>A	AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"GPCR / Class A : Orphans"	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.397G>A	17.37:g.72366698G>A	ENSP00000335158:p.Val133Ile						p.V133I	NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN			3	445	+			133					A4CYJ8|Q86SL3	Missense_Mutation	SNP	ENST00000335666.4	37	c.397G>A	CCDS11698.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.575403	0.28092	.	.	ENSG00000257008	ENST00000335666	T	0.67345	-0.26	4.64	0.334	0.15948	.	0.724710	0.13110	N	0.413051	T	0.37019	0.0988	N	0.08118	0	0.09310	N	1	B;B	0.20988	0.05;0.05	B;B	0.15870	0.014;0.01	T	0.14392	-1.0474	10	0.22109	T	0.4	-4.6989	3.0917	0.06296	0.3722:0.0:0.4427:0.185	.	133;1095	Q7Z601;Q8NGB0	GP142_HUMAN;.	I	133	ENSP00000335158:V133I	ENSP00000335158:V133I	V	+	1	0	GPR142	69878293	0.034000	0.19679	0.003000	0.11579	0.010000	0.07245	0.121000	0.15667	0.251000	0.21505	-0.699000	0.03677	GTC		0.617	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1	NM_181790		6	44	0	0	0	1	0	6	44					A	72366698	G	A	72366698	3	1	168	1	0	0	0	0	1	0	0	0	6650	1145	40	1	407	1	GPR142	17	72366698	Missense_Mutation	SNP	G	TCGA-E3-A3E1-01A-11D-A20C-08	68346405	72366698	8828512	22	3559											
TMEM146	257062	broad.mit.edu	37	chr19	5727298	5727298	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaccgcctgtattttcatcCtacaacaacacgcttgatta	6	12	1	1			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr19:5727298C>A	ENST00000381624.3	+	3	207	c.146C>A	c.(145-147)cCt>cAt	p.P49H	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	49					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											TATTTTCATCCTACAACAACA	0.303																																						ENST00000381624.3																			0											c.(145-147)cCt>cAt		catsper channel auxiliary subunit delta							108	100	102					19																	5727298		1818	4069	5887	SO:0001583	missense	257062					integral to membrane		g.chr19:5727298C>A	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"transmembrane protein 146"	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.146C>A	19.37:g.5727298C>A	ENSP00000371037:p.Pro49His					CATSPERD_ENST00000381614.2_5'UTR	p.P49H	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN			3	207	+			49					Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.146C>A	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	C	6.670	0.492148	0.12702	.	.	ENSG00000174898	ENST00000381624	T	0.22134	1.97	3.0	1.95	0.26073	.	.	.	.	.	T	0.09069	0.0224	N	0.08118	0	0.18873	N	0.999983	B	0.33448	0.412	B	0.26094	0.066	T	0.20840	-1.0263	9	0.56958	D	0.05	.	6.0334	0.19692	0.0:0.8572:0.0:0.1427	.	49	Q86XM0	TM146_HUMAN	H	49	ENSP00000371037:P49H	ENSP00000371037:P49H	P	+	2	0	TMEM146	5678298	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-0.132000	0.10467	0.835000	0.34877	0.467000	0.42956	CCT		0.303	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		3	93	1	0	0.00909568	1	0.00992256	3	93					A	5727298	C	A	5727298	3	1	168	1	0	0	0	0	1	0	0	0	16057	681	24	4	156	4	TMEM146	19	5727298	Missense_Mutation	SNP	C	TCGA-E3-A3E1-01A-11D-A20C-08		5727298	53401685	23	3560											
MX1	4599	broad.mit.edu	37	chr21	42812881	42812881	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggtggtggtccccagtaAtgtggacatcgccaccacag	12	13	0	0			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr21:42812881A>G	ENST00000398600.2	+	11	1684	c.659A>G	c.(658-660)aAt>aGt	p.N220S	MX1_ENST00000398598.3_Missense_Mutation_p.N220S|MX1_ENST00000455164.2_Missense_Mutation_p.N220S|MX1_ENST00000288383.6_Missense_Mutation_p.N197S|AP001610.5_ENST00000411427.1_RNA	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	220	Dynamin-type G.|GTPase domain (Globular).				apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GTCCCCAGTAATGTGGACATC	0.572																																						ENST00000398600.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27						c.(658-660)aAt>aGt		myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)							120	111	114					21																	42812881		2203	4300	6503	SO:0001583	missense	4599				induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding	g.chr21:42812881A>G		CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"interferon-inducible protein p78"	147150	"myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)", "myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.659A>G	21.37:g.42812881A>G	ENSP00000381601:p.Asn220Ser					MX1_ENST00000398598.3_Missense_Mutation_p.N220S|MX1_ENST00000455164.2_Missense_Mutation_p.N220S|MX1_ENST00000288383.6_Missense_Mutation_p.N197S	p.N220S	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN			11	1684	+		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)	220					B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Missense_Mutation	SNP	ENST00000398600.2	37	c.659A>G	CCDS13673.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.332694	0.81801	.	.	ENSG00000157601	ENST00000398600;ENST00000398598;ENST00000455164;ENST00000288383	D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36	4.65	4.65	0.58169	Dynamin, GTPase domain (2);	0.000000	0.85682	D	0.000000	D	0.98359	0.9455	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99338	1.0911	10	0.87932	D	0	-65.9414	13.6501	0.62306	1.0:0.0:0.0:0.0	.	220	P20591	MX1_HUMAN	S	220;220;220;197	ENSP00000381601:N220S;ENSP00000381599:N220S;ENSP00000410523:N220S;ENSP00000288383:N197S	ENSP00000288383:N197S	N	+	2	0	MX1	41734751	1.000000	0.71417	0.046000	0.18839	0.891000	0.51852	5.990000	0.70595	2.050000	0.60909	0.528000	0.53228	AAT		0.572	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195161.2			14	147	0	0	0	1	0	14	147					G	42812881	A	G	42812881	3	3	168	1	0	0	0	0	1	0	0	0	9997	101	4	3	677	3	MX1	21	42812881	Missense_Mutation	SNP	A	TCGA-E3-A3E1-01A-11D-A20C-08		42812881	5317014	24	3561											
MAGEB6	158809	broad.mit.edu	37	chrX	26212431	26212431	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagcttcacccactggctcGcctgatgcaggtgtttcagg	13	12	2	1			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chrX:26212431G>T	ENST00000379034.1	+	2	617	c.468G>T	c.(466-468)tcG>tcT	p.S156S		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	156	Ser-rich.							p.S156S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CCACTGGCTCGCCTGATGCAG	0.507																																						ENST00000379034.1																			1	Substitution - coding silent(1)	p.S156S(1)	lung(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(466-468)tcG>tcT		melanoma antigen family B, 6							56	52	53					X																	26212431		2202	4300	6502	SO:0001819	synonymous_variant	158809							g.chrX:26212431G>T	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.468G>T	X.37:g.26212431G>T							p.S156S	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	617	+			156			Ser-rich.		Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	c.468G>T	CCDS14217.1																																																																																				0.507	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		3	65	1	0	0.004672	1	0.005256	3	65					T	26212431	G	T	26212431	2	4	168	1	0	0	0	0	0	0	0	1	9179	1074	38	4		4	MAGEB6	23	26212431	Silent	SNP	G	TCGA-E3-A3E1-01A-11D-A20C-08		26212431	129058129	25	3562											
ZMAT1	84460	broad.mit.edu	37	chrX	101138612	101138612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catggctttttttcttttttCgatgcttaagctttcctgaa	6	8	1	1	rs141908807	byFrequency	TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chrX:101138612C>T	ENST00000372782.3	-	7	1834	c.1787G>A	c.(1786-1788)cGa>cAa	p.R596Q	ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Missense_Mutation_p.R425Q|ZMAT1_ENST00000540921.1_Missense_Mutation_p.R596Q	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	596						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R425Q(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TTTCTTTTTTCGATGCTTAAG	0.383																																						ENST00000372782.3																			1	Substitution - Missense(1)	p.R425Q(1)	ovary(1)	endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						c.(1786-1788)cGa>cAa		zinc finger, matrin-type 1		C	GLN/ARG	0,3835		0,0,0,1632,571	184	158	166		1787	1.6	1.0	X	dbSNP_134	166	1,6725		0,0,1,2427,1871	no	missense	ZMAT1	NM_001011657.3	43	0,0,1,4059,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095	possibly-damaging	596/639	101138612	1,10560	2203	4299	6502	SO:0001583	missense	84460					nucleus	zinc ion binding	g.chrX:101138612C>T	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"Zinc fingers, matrin-type"	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.1787G>A	X.37:g.101138612C>T	ENSP00000361868:p.Arg596Gln					ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Missense_Mutation_p.R596Q|ZMAT1_ENST00000458570.1_Missense_Mutation_p.R425Q	p.R596Q	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN			7	1834	-			425					Q8NDS3|Q96JN6	Missense_Mutation	SNP	ENST00000372782.3	37	c.1787G>A	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291668	0.40594	0.0	1.49E-4	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.27104	2.3;2.3;1.69	4.27	1.56	0.23342	.	0.202088	0.30285	N	0.009977	T	0.21427	0.0516	M	0.72118	2.19	0.30656	N	0.754896	P	0.34662	0.462	B	0.22753	0.041	T	0.13124	-1.0521	10	0.51188	T	0.08	-0.958	7.2569	0.26181	0.0:0.6815:0.0:0.3185	.	596	Q5H9K5	ZMAT1_HUMAN	Q	596;596;425	ENSP00000361868:R596Q;ENSP00000437529:R596Q;ENSP00000413044:R425Q	ENSP00000361868:R596Q	R	-	2	0	ZMAT1	101025268	0.001000	0.12720	0.998000	0.56505	0.993000	0.82548	-0.037000	0.12164	0.190000	0.20209	0.600000	0.82982	CGA		0.383	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			4	65	0	0	0	1	0	4	65					T	101138612	C	T	101138612	3	4	168	1	0	0	0	0	1	0	0	0	17688	884	31	1	133	1	ZMAT1	23	101138612	Missense_Mutation	SNP	C	TCGA-E3-A3E1-01A-11D-A20C-08	74926181	101138612	54131948	26	3563											
MCF2	4168	broad.mit.edu	37	chrX	138668623	138668623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaattcagtttcctcagtaCttataaaagctccctgttgc	5	12	2	0			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chrX:138668623C>T	ENST00000370576.4	-	23	2755	c.2546G>A	c.(2545-2547)aGt>aAt	p.S849N	MCF2_ENST00000370578.4_Missense_Mutation_p.S994N|MCF2_ENST00000536274.1_Intron|MCF2_ENST00000338585.6_Missense_Mutation_p.S865N|MCF2_ENST00000520602.1_Missense_Mutation_p.S909N|MCF2_ENST00000414978.1_Missense_Mutation_p.S909N|MCF2_ENST00000519895.1_Missense_Mutation_p.S925N|MCF2_ENST00000370573.4_Intron	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	849					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TTCCTCAGTACTTATAAAAGC	0.383																																						ENST00000520602.1																			0				NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62						c.(2725-2727)aGt>aAt		MCF.2 cell line derived transforming sequence							158	129	139					X																	138668623		2203	4300	6503	SO:0001583	missense	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138668623C>T		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"Rho guanine nucleotide exchange factors"	6940	protein-coding gene	gene with protein product	"Oncogene MCF2 (oncogene DBL)"	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.2546G>A	X.37:g.138668623C>T	ENSP00000359608:p.Ser849Asn					MCF2_ENST00000370573.4_Intron|MCF2_ENST00000370576.4_Missense_Mutation_p.S849N|MCF2_ENST00000338585.6_Missense_Mutation_p.S865N|MCF2_ENST00000370578.4_Missense_Mutation_p.S994N|MCF2_ENST00000519895.1_Missense_Mutation_p.S925N|MCF2_ENST00000536274.1_Intron|MCF2_ENST00000414978.1_Missense_Mutation_p.S909N	p.S909N			P10911	MCF2_HUMAN			26	3011	-	Acute lymphoblastic leukemia(192;0.000127)		849					B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	c.2726G>A	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	C	3.414	-0.119652	0.06838	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000370578;ENST00000414978;ENST00000446225;ENST00000519895;ENST00000338585	T;T;T;T;T;T;T	0.52754	1.21;1.1;1.19;1.21;0.65;1.27;1.16	5.36	-3.02	0.05446	.	1.027290	0.07669	N	0.935075	T	0.28267	0.0698	N	0.24115	0.695	0.09310	N	1	B;B;B;B;B	0.09022	0.0;0.0;0.001;0.001;0.002	B;B;B;B;B	0.08055	0.001;0.001;0.003;0.002;0.001	T	0.17623	-1.0363	10	0.22706	T	0.39	.	6.4243	0.21760	0.1223:0.4024:0.0:0.4753	.	925;849;994;865;849	E9PH77;B2R9S6;Q5JYJ7;P10911-4;P10911	.;.;.;.;MCF2_HUMAN	N	909;849;994;909;452;925;865	ENSP00000427745:S909N;ENSP00000359608:S849N;ENSP00000359610:S994N;ENSP00000397055:S909N;ENSP00000405848:S452N;ENSP00000430276:S925N;ENSP00000342204:S865N	ENSP00000342204:S865N	S	-	2	0	MCF2	138496289	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.345000	0.19979	-1.227000	0.02571	-0.931000	0.02705	AGT		0.383	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		7	92	0	0	0	1	0	7	92					T	138668623	C	T	138668623	3	4	168	1	0	0	0	0	1	0	0	0	9378	565	20	2	271	2	MCF2	23	138668623	Missense_Mutation	SNP	C	TCGA-E3-A3E1-01A-11D-A20C-08	37530011	138668623	16601937	27	3564											
MTMR1	8776	broad.mit.edu	37	chrX	149931175	149931175	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcctcgccctcccactcCgccacctccgtccacacctc	5	25	0	0			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chrX:149931175C>T	ENST00000370390.3	+	15	2128	c.1971C>T	c.(1969-1971)tcC>tcT	p.S657S	MTMR1_ENST00000538506.1_Intron|MTMR1_ENST00000445323.2_Silent_p.S665S|MTMR1_ENST00000544228.1_Silent_p.S657S|MTMR1_ENST00000541925.1_Silent_p.S563S	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	657					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)	p.S657S(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCCACTCCGCCACCTCCG	0.672																																						ENST00000445323.2																			1	Substitution - coding silent(1)	p.S657S(1)	endometrium(1)	central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23						c.(1993-1995)tcC>tcT		myotubularin related protein 1							36	34	35					X																	149931175		2203	4298	6501	SO:0001819	synonymous_variant	8776					plasma membrane	protein tyrosine phosphatase activity	g.chrX:149931175C>T	U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.1971C>T	X.37:g.149931175C>T						MTMR1_ENST00000541925.1_Silent_p.S563S|MTMR1_ENST00000544228.1_Silent_p.S657S|MTMR1_ENST00000538506.1_Intron|MTMR1_ENST00000370390.3_Silent_p.S657S	p.S665S			Q13613	MTMR1_HUMAN			16	2116	+	Acute lymphoblastic leukemia(192;6.56e-05)		657					A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Silent	SNP	ENST00000370390.3	37	c.1995C>T	CCDS14695.1																																																																																				0.672	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789		20	62	0	0	0	1	0	20	62					T	149931175	C	T	149931175	2	4	168	1	0	0	0	0	0	0	0	1	9938	639	23	1		1	MTMR1	23	149931175	Silent	SNP	C	TCGA-E3-A3E1-01A-11D-A20C-08	11262552	149931175	5339385	28	3565											
USP37	57695	broad.mit.edu	37	chr2	219346911	219346911	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cccaatcttattgttaagcgAgagagccacattgaagctat	8	9	1	2			TCGA-E3-A3E2-01A-11D-A20C-08	TCGA-E3-A3E2-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7adbf25b-0508-4625-9781-8fd3d054814e	6783d5e4-0cf6-4fdf-af00-edcb75c87770	g.chr2:219346911A>T	ENST00000258399.3	-	17	2129	c.1717T>A	c.(1717-1719)Tcg>Acg	p.S573T	USP37_ENST00000418019.1_Missense_Mutation_p.S573T|USP37_ENST00000475553.1_5'UTR|USP37_ENST00000454775.1_Missense_Mutation_p.S573T|USP37_ENST00000415516.1_Missense_Mutation_p.S501T	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	573	USP.				G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TTGTTAAGCGAGAGAGCCACA	0.388																																						ENST00000258399.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35						c.(1717-1719)Tcg>Acg		ubiquitin specific peptidase 37							158	144	149					2																	219346911		2203	4300	6503	SO:0001583	missense	57695				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:219346911A>T	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"Ubiquitin-specific peptidases"	20063	protein-coding gene	gene with protein product			"ubiquitin specific protease 37"			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.1717T>A	2.37:g.219346911A>T	ENSP00000258399:p.Ser573Thr					USP37_ENST00000475553.1_5'UTR|USP37_ENST00000418019.1_Missense_Mutation_p.S573T|USP37_ENST00000415516.1_Missense_Mutation_p.S501T|USP37_ENST00000454775.1_Missense_Mutation_p.S573T	p.S573T	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)	17	2129	-		Renal(207;0.0915)	573					A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	ENST00000258399.3	37	c.1717T>A	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.118704	0.77323	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.69	5.69	0.88448	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.47451	0.1446	L	0.48877	1.53	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.69654	0.941;0.965	T	0.27571	-1.0070	10	0.30854	T	0.27	-9.7185	15.9544	0.79871	1.0:0.0:0.0:0.0	.	501;573	Q86T82-2;Q86T82	.;UBP37_HUMAN	T	573;573;501;573	ENSP00000258399:S573T;ENSP00000393662:S573T;ENSP00000400902:S501T;ENSP00000396585:S573T	ENSP00000258399:S573T	S	-	1	0	USP37	219055155	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.261000	0.78400	2.170000	0.68504	0.533000	0.62120	TCG		0.388	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935		5	143	0	0	0	1	0	5	143					T	219346911	A	T	219346911	3	4	169	1	0	0	0	0	1	0	0	0	17065	304	11	5	1262	5	USP37	2	219346911	Missense_Mutation	SNP	A	TCGA-E3-A3E2-01A-11D-A20C-08		219346911	23852462	1	3566											
AKIRIN2	55122	broad.mit.edu	37	chr6	88385612	88385612	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctccatatcgtcgcattatTtgatcatgcgtaaacttcac	5	11	3	1	rs183921090		TCGA-E3-A3E2-01A-11D-A20C-08	TCGA-E3-A3E2-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7adbf25b-0508-4625-9781-8fd3d054814e	6783d5e4-0cf6-4fdf-af00-edcb75c87770	g.chr6:88385612T>C	ENST00000257787.5	-	4	1091	c.567A>G	c.(565-567)caA>caG	p.Q189Q		NM_018064.3	NP_060534.1	Q53H80	AKIR2_HUMAN	akirin 2	189					embryo development (GO:0009790)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to lipopolysaccharide (GO:0032496)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)			large_intestine(4)	4						GTCGCATTATTTGATCATGCG	0.323													T|||	1	0.000199681	0	0.0014	5008	,	,		19769	0		0	False		,,,				2504	0					ENST00000257787.5																			0				large_intestine(4)	4						c.(565-567)caA>caG		akirin 2							86	81	83					6																	88385612		2203	4300	6503	SO:0001819	synonymous_variant	55122				innate immune response|transcription, DNA-dependent	transcriptional repressor complex		g.chr6:88385612T>C	BC000764	CCDS5013.1	6q15	2009-04-17	2008-06-23	2008-06-23	ENSG00000135334	ENSG00000135334			21407	protein-coding gene	gene with protein product		615165	"chromosome 6 open reading frame 166"	C6orf166			Standard	NM_018064		Approved	FLJ10342, dJ486L4.2	uc003pmk.3	Q53H80	OTTHUMG00000015180	ENST00000257787.5:c.567A>G	6.37:g.88385612T>C							p.Q189Q	NM_018064.3	NP_060534.1	Q53H80	AKIR2_HUMAN			4	1091	-			189					Q9BQB1	Silent	SNP	ENST00000257787.5	37	c.567A>G	CCDS5013.1																																																																																				0.323	AKIRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041455.1	NM_018064		3	67	0	0	0	1	0	3	67					C	88385612	T	C	88385612	2	2	169	1	0	0	0	0	0	0	0	1	462	1838	64	3		3	AKIRIN2	6	88385612	Silent	SNP	T	TCGA-E3-A3E2-01A-11D-A20C-08		88385612	82729455	2	3567											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E3-A3E2-01A-11D-A20C-08	TCGA-E3-A3E2-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7adbf25b-0508-4625-9781-8fd3d054814e	6783d5e4-0cf6-4fdf-af00-edcb75c87770	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		25	59	0	0	0	1	0	25	59					T	140453136	A	T	140453136	3	4	169	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E3-A3E2-01A-11D-A20C-08		140453136	18685527	3	3568											
GDF6	392255	broad.mit.edu	37	chr8	97157245	97157245	+	Frame_Shift_Del	DEL	G	G	-													acccctcggcgcccgcgcccGggcccgcagcctcggccgag							TCGA-E3-A3E2-01A-11D-A20C-08	TCGA-E3-A3E2-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7adbf25b-0508-4625-9781-8fd3d054814e	6783d5e4-0cf6-4fdf-af00-edcb75c87770	g.chr8:97157245delG	ENST00000287020.5	-	2	1013	c.914delC	c.(913-915)ccgfs	p.P305fs		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	305					activin receptor signaling pathway (GO:0032924)|apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|growth (GO:0040007)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal cell apoptotic process (GO:1990009)	extracellular space (GO:0005615)				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					gcccgcgcccgggcccgcAGC	0.776																																						ENST00000287020.5																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						c.(913-915)cgfs		growth differentiation factor 6							2	2	2					8																	97157245		1105	2240	3345	SO:0001589	frameshift_variant	392255				activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr8:97157245delG		CCDS34926.1	8q22.1	2014-01-29			ENSG00000156466	ENSG00000156466			4221	protein-coding gene	gene with protein product		601147	"segmentation syndrome 1"	SGM1		10022976, 18425797	Standard	NM_001001557		Approved	BMP13, KFS, KFS1	uc003yhp.3	Q6KF10	OTTHUMG00000164710	ENST00000287020.5:c.914delC	8.37:g.97157245delG	ENSP00000287020:p.Pro305fs						p.P305fs	NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN			2	1013	-	Breast(36;2.67e-05)		305					Q6PI58	Frame_Shift_Del	DEL	ENST00000287020.5	37	c.914delC	CCDS34926.1																																																																																				0.776	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379862.2	NM_001001557		2	4						2	4	---	---	---	---	-	97157245	G	-	97157245	7	5	169	1	0	1	0	1	0	0	0	0	6317	1116	39	0	457	0	GDF6	8	97157245	Frame_Shift_Del	DEL	G	TCGA-E3-A3E2-01A-11D-A20C-08		97157245	49206777	4	3569											
UNC13B	10497	broad.mit.edu	37	chr9	35396935	35396935	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgagataagaaggatggaGtaagtcaggggctttggctg	16	4	1	2			TCGA-E3-A3E2-01A-11D-A20C-08	TCGA-E3-A3E2-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7adbf25b-0508-4625-9781-8fd3d054814e	6783d5e4-0cf6-4fdf-af00-edcb75c87770	g.chr9:35396935G>A	ENST00000378495.3	+	27	3507		c.e27+1		UNC13B_ENST00000378496.4_Splice_Site|UNC13B_ENST00000481299.1_Splice_Site|UNC13B_ENST00000396787.1_Splice_Site	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)						apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GAAGGATGGAGTAAGTCAGGG	0.552																																						ENST00000378495.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.e27+1		unc-13 homolog B (C. elegans)							119	122	121					9																	35396935		2203	4300	6503	SO:0001630	splice_region_variant	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35396935G>A	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"unc-13-like (C. elegans)"	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.3285+1G>A	9.37:g.35396935G>A						UNC13B_ENST00000378496.4_Splice_Site|UNC13B_ENST00000481299.1_Splice_Site|UNC13B_ENST00000396787.1_Splice_Site		NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		27	3507	+	all_epithelial(49;0.212)							Q5VYM8	Splice_Site	SNP	ENST00000378495.3	37		CCDS6579.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.642409	0.87859	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8306	0.96634	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UNC13B	35386935	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	9.760000	0.98935	2.682000	0.91365	0.563000	0.77884	.		0.552	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377	Intron	4	171	0	0	0	1	0	4	171					A	35396935	G	A	35396935	5	1	169	1	0	0	0	0	0	0	1	0	16982	1043	36	2	3392	2	UNC13B	9	35396935	Splice_Site	SNP	G	TCGA-E3-A3E2-01A-11D-A20C-08		35396935	105816496	5	3570											
TXNRD1	7296	broad.mit.edu	37	chr12	104651840	104651840	+	Frame_Shift_Del	DEL	T	T	-													gtgtgttccttattttgtgcTtgaacttgatcaaacaggta							TCGA-E3-A3E2-01A-11D-A20C-08	TCGA-E3-A3E2-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7adbf25b-0508-4625-9781-8fd3d054814e	6783d5e4-0cf6-4fdf-af00-edcb75c87770	g.chr12:104651840delT	ENST00000525566.1	+	3	311	c.287delT	c.(286-288)cttfs	p.L96fs	TXNRD1_ENST00000429002.2_Frame_Shift_Del_p.L96fs|TXNRD1_ENST00000526006.1_3'UTR	NM_001093771.2	NP_001087240.1	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	96	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	TATTTTGTGCTTGAACTTGAT	0.308																																					Ovarian(139;555 1836 9186 9946 10884)	ENST00000525566.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						c.(286-288)ctfs		thioredoxin reductase 1							133	118	123					12																	104651840		1811	4048	5859	SO:0001589	frameshift_variant	7296				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr12:104651840delT		CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000525566.1:c.287delT	12.37:g.104651840delT	ENSP00000434516:p.Leu96fs					TXNRD1_ENST00000526006.1_3'UTR|TXNRD1_ENST00000429002.2_Frame_Shift_Del_p.L96fs	p.L96fs	NM_001093771.2	NP_001087240.1	Q16881	TRXR1_HUMAN			3	311	+			96			Glutaredoxin.		B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Frame_Shift_Del	DEL	ENST00000525566.1	37	c.287delT	CCDS53820.1																																																																																				0.308	TXNRD1-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389960.1	NM_003330		2	4						2	4	---	---	---	---	-	104651840	T	-	104651840	7	5	169	1	0	1	0	1	0	0	0	0	16804	1609	56	0	297	0	TXNRD1	12	104651840	Frame_Shift_Del	DEL	T	TCGA-E3-A3E2-01A-11D-A20C-08		104651840	29200055	6	3571											
ST8SIA2	8128	broad.mit.edu	37	chr15	92981586	92981586	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtttggttttcacaggaaGcagattttaaagttcttgga	10	4	2	1			TCGA-E3-A3E2-01A-11D-A20C-08	TCGA-E3-A3E2-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7adbf25b-0508-4625-9781-8fd3d054814e	6783d5e4-0cf6-4fdf-af00-edcb75c87770	g.chr15:92981586G>A	ENST00000268164.3	+	4	531	c.294G>A	c.(292-294)aaG>aaA	p.K98K	ST8SIA2_ENST00000539113.1_Silent_p.K77K	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	98					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			TTCACAGGAAGCAGATTTTAA	0.488																																						ENST00000268164.3																			0				endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20						c.(292-294)aaG>aaA		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2							127	141	136					15																	92981586		2198	4298	6496	SO:0001819	synonymous_variant	8128				axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr15:92981586G>A	U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"Sialyltransferases"	10870	protein-coding gene	gene with protein product		602546	"sialyltransferase 8 (alpha-2, 8-sialytransferase) B"	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.294G>A	15.37:g.92981586G>A						ST8SIA2_ENST00000539113.1_Silent_p.K77K	p.K98K	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)		4	531	+	Lung NSC(78;0.0893)|all_lung(78;0.125)		98					Q4VAZ0|Q92470|Q92746	Silent	SNP	ENST00000268164.3	37	c.294G>A	CCDS10372.1																																																																																				0.488	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313526.1	NM_006011		4	208	0	0	0	1	0	4	208					A	92981586	G	A	92981586	2	1	169	1	0	0	0	0	0	0	0	1	15231	962	34	2		2	ST8SIA2	15	92981586	Silent	SNP	G	TCGA-E3-A3E2-01A-11D-A20C-08		92981586	9549806	7	3572											
OR3A3	8392	broad.mit.edu	37	chr17	3324703	3324703	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaatcttcagacaaggataAgggggttggggttttcatga	15	4	3	2			TCGA-E3-A3E2-01A-11D-A20C-08	TCGA-E3-A3E2-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7adbf25b-0508-4625-9781-8fd3d054814e	6783d5e4-0cf6-4fdf-af00-edcb75c87770	g.chr17:3324703A>G	ENST00000291231.1	+	1	842	c.842A>G	c.(841-843)aAg>aGg	p.K281R		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	281					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						GACAAGGATAAGGGGGTTGGG	0.507																																						ENST00000291231.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						c.(841-843)aAg>aGg		olfactory receptor, family 3, subfamily A, member 3							135	131	133					17																	3324703		2203	4300	6503	SO:0001583	missense	8392				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3324703A>G	U04688	CCDS11025.1	17p13.3	2012-08-09			ENSG00000159961	ENSG00000159961		"GPCR / Class A : Olfactory receptors"	8284	protein-coding gene	gene with protein product				OR3A6, OR3A7, OR3A8P		8004088, 9500546	Standard	NM_012373		Approved	OR17-201, OR17-137, OR17-16	uc010vrd.2	P47888	OTTHUMG00000090649	ENST00000291231.1:c.842A>G	17.37:g.3324703A>G	ENSP00000291231:p.Lys281Arg						p.K281R	NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN			1	842	+			281					Q2VPE4|Q6IFM6|Q9P1Q4|Q9UBE7	Missense_Mutation	SNP	ENST00000291231.1	37	c.842A>G	CCDS11025.1	.	.	.	.	.	.	.	.	.	.	.	6.702	0.498248	0.12762	.	.	ENSG00000159961	ENST00000291231	T	0.00188	8.59	2.56	1.41	0.22369	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00178	0.0005	L	0.38733	1.17	0.09310	N	1	B	0.33919	0.432	B	0.40940	0.344	T	0.12941	-1.0528	9	0.38643	T	0.18	.	4.3915	0.11343	0.6075:0.1985:0.0:0.194	.	281	P47888	OR3A3_HUMAN	R	281	ENSP00000291231:K281R	ENSP00000291231:K281R	K	+	2	0	OR3A3	3271453	0.000000	0.05858	0.530000	0.27963	0.833000	0.47200	0.607000	0.24209	0.345000	0.23873	0.533000	0.62120	AAG		0.507	OR3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207309.1			3	193	0	0	0	1	0	3	193					G	3324703	A	G	3324703	3	3	169	1	0	0	0	0	1	0	0	0	11039	72	3	3	844	3	OR3A3	17	3324703	Missense_Mutation	SNP	A	TCGA-E3-A3E2-01A-11D-A20C-08		3324703	77870507	8	3573											
GDPD1	284161	broad.mit.edu	37	chr17	57298002	57298002	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcggctttttaccttctctCtacgctaggaggatacttgg	10	10	2	0			TCGA-E3-A3E2-01A-11D-A20C-08	TCGA-E3-A3E2-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7adbf25b-0508-4625-9781-8fd3d054814e	6783d5e4-0cf6-4fdf-af00-edcb75c87770	g.chr17:57298002C>T	ENST00000284116.4	+	1	169	c.32C>T	c.(31-33)tCt>tTt	p.S11F	GDPD1_ENST00000581276.1_Missense_Mutation_p.S11F|GDPD1_ENST00000581140.1_Missense_Mutation_p.S11F	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain containing 1	11					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					TACCTTCTCTCTACGCTAGGA	0.532											OREG0024617	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000284116.4																			0				endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6						c.(31-33)tCt>tTt		glycerophosphodiester phosphodiesterase domain containing 1							155	145	149					17																	57298002		2203	4300	6503	SO:0001583	missense	284161				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr17:57298002C>T	AK094770	CCDS11616.1, CCDS58583.1, CCDS58584.1	17q23.2	2011-01-25				ENSG00000153982			20883	protein-coding gene	gene with protein product						14612981	Standard	NM_182569		Approved	FLJ37451, GDE4	uc002ixk.2	Q8N9F7		ENST00000284116.4:c.32C>T	17.37:g.57298002C>T	ENSP00000284116:p.Ser11Phe		OREG0024617	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1022	GDPD1_ENST00000581140.1_Missense_Mutation_p.S11F|GDPD1_ENST00000581276.1_Missense_Mutation_p.S11F	p.S11F	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN			1	169	+	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)		11					A8W735|Q56VR1|Q8N4E3	Missense_Mutation	SNP	ENST00000284116.4	37	c.32C>T	CCDS11616.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.888664	0.52014	.	.	ENSG00000153982	ENST00000284116	T	0.31247	1.5	5.45	5.45	0.79879	.	0.055949	0.85682	D	0.000000	T	0.41766	0.1173	L	0.57536	1.79	0.58432	D	0.999999	P;D	0.53151	0.93;0.958	B;P	0.48627	0.38;0.584	T	0.35649	-0.9780	10	0.66056	D	0.02	.	17.855	0.88760	0.0:1.0:0.0:0.0	.	11;11	Q8N9F7;Q8N9F7-2	GDPD1_HUMAN;.	F	11	ENSP00000284116:S11F	ENSP00000284116:S11F	S	+	2	0	GDPD1	54652784	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.130000	0.71663	2.563000	0.86464	0.563000	0.77884	TCT		0.532	GDPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446024.1	NM_182569		55	115	0	0	0	1	0	55	115					T	57298002	C	T	57298002	3	4	169	1	0	0	0	0	1	0	0	0	6323	913	32	2	34	2	GDPD1	17	57298002	Missense_Mutation	SNP	C	TCGA-E3-A3E2-01A-11D-A20C-08	53973299	57298002	23897208	9	3574											
DOT1L	84444	broad.mit.edu	37	chr19	2222329	2222329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccatcaccactggtgcggGcagtgccaagcagtcgccct	11	16	1	0			TCGA-E3-A3E2-01A-11D-A20C-08	TCGA-E3-A3E2-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7adbf25b-0508-4625-9781-8fd3d054814e	6783d5e4-0cf6-4fdf-af00-edcb75c87770	g.chr19:2222329G>A	ENST00000398665.3	+	24	3197	c.3161G>A	c.(3160-3162)gGc>gAc	p.G1054D		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1054					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		ACTGGTGCGGGCAGTGCCAAG	0.667																																						ENST00000398665.3																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42						c.(3160-3162)gGc>gAc		DOT1-like histone H3K79 methyltransferase							26	32	30					19																	2222329		2125	4237	6362	SO:0001583	missense	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2222329G>A	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases"	24948	protein-coding gene	gene with protein product	"histone methyltransferase DOT1L"	607375	"DOT1-like, histone H3 methyltransferase (S. cerevisiae)"			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.3161G>A	19.37:g.2222329G>A	ENSP00000381657:p.Gly1054Asp						p.G1054D	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_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)	24	3197	+		Hepatocellular(1079;0.137)	1054					O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	c.3161G>A	CCDS42460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.69|10.69	1.421455|1.421455	0.25639|0.25639	.|.	.|.	ENSG00000104885|ENSG00000104885	ENST00000440640|ENST00000398665;ENST00000221482	.|T	.|0.27557	.|1.66	4.53|4.53	3.48|3.48	0.39840|0.39840	.|.	.|0.762845	.|0.12687	.|N	.|0.447491	T|T	0.31231|0.31231	0.0790|0.0790	L|L	0.38175|0.38175	1.15|1.15	0.09310|0.09310	N|N	1|1	.|P;P	.|0.44429	.|0.608;0.835	.|B;P	.|0.44990	.|0.076;0.466	T|T	0.11397|0.11397	-1.0589|-1.0589	5|10	.|0.87932	.|D	.|0	-5.4955|-5.4955	12.3829|12.3829	0.55317|0.55317	0.0:0.3261:0.6739:0.0|0.0:0.3261:0.6739:0.0	.|.	.|1054;1054	.|Q8TEK3;Q8TEK3-2	.|DOT1L_HUMAN;.	T|D	841|1054	.|ENSP00000381657:G1054D	.|ENSP00000221482:G1054D	A|G	+|+	1|2	0|0	DOT1L|DOT1L	2173329|2173329	0.032000|0.032000	0.19561|0.19561	0.002000|0.002000	0.10522|0.10522	0.004000|0.004000	0.04260|0.04260	2.263000|2.263000	0.43293|0.43293	0.887000|0.887000	0.36136|0.36136	0.462000|0.462000	0.41574|0.41574	GCA|GGC		0.667	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		3	47	0	0	0	1	0	3	47					A	2222329	G	A	2222329	3	1	169	1	0	0	0	0	1	0	0	0	4709	1203	42	2	3255	2	DOT1L	19	2222329	Missense_Mutation	SNP	G	TCGA-E3-A3E2-01A-11D-A20C-08		2222329	56906654	10	3575											
ISYNA1	51477	broad.mit.edu	37	chr19	18547527	18547528	+	Frame_Shift_Del	DEL	CG	CG	-													gagcctgggatgaggttgtcCgcgcgcgcgctctggttggc					rs529148937		TCGA-E3-A3E2-01A-11D-A20C-08	TCGA-E3-A3E2-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7adbf25b-0508-4625-9781-8fd3d054814e	6783d5e4-0cf6-4fdf-af00-edcb75c87770	g.chr19:18547527_18547528delCG	ENST00000338128.8	-	5	792_793	c.575_576delCG	c.(574-576)gcgfs	p.A192fs	ISYNA1_ENST00000317018.6_Intron|ISYNA1_ENST00000545187.1_Frame_Shift_Del_p.A42fs|ISYNA1_ENST00000578963.1_Frame_Shift_Del_p.A64fs|ISYNA1_ENST00000457269.4_Frame_Shift_Del_p.A138fs	NM_001170938.1|NM_016368.4	NP_001164409.1|NP_057452.1	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	192					inositol biosynthetic process (GO:0006021)|inositol phosphate metabolic process (GO:0043647)|phospholipid biosynthetic process (GO:0008654)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-3-phosphate synthase activity (GO:0004512)			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						TGAGGTTGTCCGCGCGCGCGCT	0.644																																						ENST00000545187.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						c.(124-126)gfs		inositol-3-phosphate synthase 1			,,	20,4144		2,16,2064					,,	3.9	1.0			13	54,8086		4,46,4020	no	frameshift,frameshift,frameshift	ISYNA1	NM_016368.4,NM_001170939.1,NM_001170938.1	,,	6,62,6084	A1A1,A1R,RR		0.6634,0.4803,0.6014	,,	,,		74,12230				SO:0001589	frameshift_variant	51477				inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity	g.chr19:18547527_18547528delCG		CCDS12379.1, CCDS54234.1, CCDS62603.1	19p13.11	2014-09-04			ENSG00000105655	ENSG00000105655	5.5.1.4		29821	protein-coding gene	gene with protein product	"myo-inositol 1-phosphate synthase"	611670				15024000, 12941308	Standard	NM_016368		Approved	Ino1, INOS, IPS	uc002njd.2	Q9NPH2	OTTHUMG00000179027	ENST00000338128.8:c.575_576delCG	19.37:g.18547535_18547536delCG	ENSP00000337746:p.Ala192fs					ISYNA1_ENST00000317018.6_Intron|ISYNA1_ENST00000578963.1_Frame_Shift_Del_p.A64fs|ISYNA1_ENST00000338128.7_Frame_Shift_Del_p.A192fs|ISYNA1_ENST00000457269.3_Frame_Shift_Del_p.A138fs	p.A42fs			Q9NPH2	INO1_HUMAN			2	411_412	-			192					B3KRT1|G5E9U0|Q6NXT5|Q7Z525|Q9BT65|Q9H2Y2|Q9NSU0|Q9NVW7	Frame_Shift_Del	DEL	ENST00000338128.8	37	c.125_126delCG	CCDS12379.1																																																																																				0.644	ISYNA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444469.2	NM_016368		3	4						3	4	---	---	---	---	-	18547528	CG	-	18547527	7	5	169	1	0	1	0	1	0	0	0	0	7867	639	23	0	1128	0	ISYNA1	19	18547527	Frame_Shift_Del	DEL	CG	TCGA-E3-A3E2-01A-11D-A20C-08	16325198	18547527	40581456	11	3576											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	24	0	0	3			TCGA-E3-A3E2-01A-11D-A20C-08	TCGA-E3-A3E2-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7adbf25b-0508-4625-9781-8fd3d054814e	6783d5e4-0cf6-4fdf-af00-edcb75c87770	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		3	61	0	0	0	1	0	3	61					A	150156360	G	A	150156360	2	1	169	1	0	0	0	0	0	0	0	1	7227	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-E3-A3E2-01A-11D-A20C-08		150156360	5114200	12	3577											
CSMD2	114784	broad.mit.edu	37	chr1	34037304	34037304	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatgctccacgctgatgctActgacatcaggacaagtcac	8	14	2	2			TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chr1:34037304A>G	ENST00000373381.4	-	51	7961	c.7785T>C	c.(7783-7785)agT>agC	p.S2595S		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2597	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CGCTGATGCTACTGACATCAG	0.473																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(7783-7785)agT>agC		CUB and Sushi multiple domains 2							81	74	76					1																	34037304		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34037304A>G	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.7785T>C	1.37:g.34037304A>G							p.S2595S	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			51	7961	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2597			Sushi 16.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37	c.7785T>C																																																																																					0.473	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		18	45	0	0	0	0.624587	0	18	45					G	34037304	A	G	34037304	2	3	170	1	0	0	0	0	0	0	0	1	3945	388	14	3		3	CSMD2	1	34037304	Silent	SNP	A	TCGA-E3-A3E3-01A-11D-A20C-08		34037304	215213317	1	3578											
SH2D6	284948	broad.mit.edu	37	chr2	85663670	85663670	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	acagacacagcggcagccggGaactcacctgcctgctcttc	10	16	2	1			TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chr2:85663670G>C	ENST00000340326.2	+	4	654	c.493G>C	c.(493-495)Gaa>Caa	p.E165Q	Y_RNA_ENST00000384478.1_RNA|SH2D6_ENST00000389938.2_Missense_Mutation_p.E133Q|SH2D6_ENST00000481426.2_3'UTR	NM_198482.1	NP_940884.1	Q7Z4S9	SH2D6_HUMAN	SH2 domain containing 6	165	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.									central_nervous_system(1)|lung(2)	3						CGGCAGCCGGGAACTCACCTG	0.647																																						ENST00000389938.2																			0				central_nervous_system(1)|lung(2)	3						c.(397-399)Gaa>Caa		SH2 domain containing 6							77	67	70					2																	85663670		2203	4300	6503	SO:0001583	missense	284948							g.chr2:85663670G>C	AF450483	CCDS1976.1	2p11.2	2013-02-14			ENSG00000152292	ENSG00000152292		"SH2 domain containing"	30439	protein-coding gene	gene with protein product						12477932	Standard	NM_198482		Approved	FLJ35993	uc002spq.3	Q7Z4S9	OTTHUMG00000130176	ENST00000340326.2:c.493G>C	2.37:g.85663670G>C	ENSP00000341867:p.Glu165Gln					SH2D6_ENST00000481426.2_3'UTR|SH2D6_ENST00000340326.2_Missense_Mutation_p.E165Q	p.E133Q			Q7Z4S9	SH2D6_HUMAN			20	1711	+			165			SH2.		A6ND14|Q6R306	Missense_Mutation	SNP	ENST00000340326.2	37	c.397G>C	CCDS1976.1	.	.	.	.	.	.	.	.	.	.	G	4.542	0.100597	0.08731	.	.	ENSG00000152292	ENST00000389938;ENST00000340326	T	0.76448	-1.02	5.07	4.19	0.49359	SH2 motif (1);	0.593369	0.14543	N	0.313185	T	0.56093	0.1962	N	0.04018	-0.295	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.44128	-0.9348	10	0.28530	T	0.3	-0.4466	10.3355	0.43847	0.0:0.6501:0.3499:0.0	.	165	Q7Z4S9	SH2D6_HUMAN	Q	133;165	ENSP00000341867:E165Q	ENSP00000341867:E165Q	E	+	1	0	SH2D6	85517181	0.004000	0.15560	0.067000	0.19924	0.207000	0.24258	1.328000	0.33758	1.288000	0.44600	0.561000	0.74099	GAA		0.647	SH2D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252493.2	NM_198482		14	61	0	0	0	0.539581	0	14	61					C	85663670	G	C	85663670	3	2	170	1	0	0	0	0	1	0	0	0	14238	1175	41	4	507	4	SH2D6	2	85663670	Missense_Mutation	SNP	G	TCGA-E3-A3E3-01A-11D-A20C-08		85663670	157535703	2	3579											
AQP12B	653437	broad.mit.edu	37	chr2	241621918	241621918	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctgtgccgccagcttcaGcagcgtgccaggcagagact	12	16	1	1	rs561469792	byFrequency	TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chr2:241621918G>A	ENST00000407834.3	-	1	399	c.337C>T	c.(337-339)Ctg>Ttg	p.L113L		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	101						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GCCAGCTTCAGCAGCGTGCCA	0.697													N|||	3	0.000599042	0.0023	0	5008	,	,		18371	0		0	False		,,,				2504	0					ENST00000407834.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13						c.(337-339)Ctg>Ttg		aquaporin 12B							35	36	36					2																	241621918		2203	4299	6502	SO:0001819	synonymous_variant	653437					integral to membrane	transporter activity	g.chr2:241621918G>A	BC041460	CCDS46560.1	2q37.3	2007-12-14	2005-05-26	2005-05-26	ENSG00000185176	ENSG00000185176		"Ion channels / Aquaporins"	6096	protein-coding gene	gene with protein product			"insulin synthesis associated 3"	INSSA3			Standard	NM_001102467		Approved		uc010fzj.3	A6NM10	OTTHUMG00000152263	ENST00000407834.3:c.337C>T	2.37:g.241621918G>A							p.L113L	NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)	1	399	-		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	101					A4QPB9	Silent	SNP	ENST00000407834.3	37	c.337C>T	CCDS46560.1																																																																																				0.697	AQP12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325625.1			4	39	0	0	0	0.150653	0	4	39					A	241621918	G	A	241621918	2	1	170	1	0	0	0	0	0	0	0	1	825	962	34	2		2	AQP12B	2	241621918	Silent	SNP	G	TCGA-E3-A3E3-01A-11D-A20C-08	155958248	241621918	1577455	3	3580											
STXBP5L	9515	broad.mit.edu	37	chr3	120941872	120941872	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaccattcataatattctctGgtgggctgtcctatgacaaa	7	9	2	1			TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chr3:120941872G>C	ENST00000273666.6	+	11	1250	c.979G>C	c.(979-981)Ggt>Cgt	p.G327R	STXBP5L_ENST00000497029.1_Missense_Mutation_p.G327R|STXBP5L_ENST00000471454.1_Missense_Mutation_p.G327R|STXBP5L_ENST00000492541.1_Missense_Mutation_p.G327R|STXBP5L_ENST00000472879.1_Missense_Mutation_p.G327R	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	327					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AATATTCTCTGGTGGGCTGTC	0.363																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(979-981)Ggt>Cgt		syntaxin binding protein 5-like							150	140	143					3																	120941872		1869	4093	5962	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120941872G>C	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"WD repeat domain containing"	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.979G>C	3.37:g.120941872G>C	ENSP00000273666:p.Gly327Arg					STXBP5L_ENST00000492541.1_Missense_Mutation_p.G327R|STXBP5L_ENST00000497029.1_Missense_Mutation_p.G327R|STXBP5L_ENST00000472879.1_Missense_Mutation_p.G327R|STXBP5L_ENST00000471454.1_Missense_Mutation_p.G327R	p.G327R	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	11	1250	+			327					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.979G>C	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.278167	0.80692	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.70986	0.11;0.2;0.01;-0.53;-0.1;0.11	4.65	4.65	0.58169	WD40 repeat-like-containing domain (1);Lethal giant larvae homologue 2 (1);	0.000000	0.85682	D	0.000000	D	0.84955	0.5587	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	0.993;1.0	D;D	0.97110	0.939;1.0	D	0.87482	0.2421	10	0.87932	D	0	-24.7486	17.7198	0.88348	0.0:0.0:1.0:0.0	.	327;327	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	R	327	ENSP00000273666:G327R;ENSP00000420019:G327R;ENSP00000419627:G327R;ENSP00000420287:G327R;ENSP00000420666:G327R;ENSP00000420167:G327R	ENSP00000273666:G327R	G	+	1	0	STXBP5L	122424562	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.657000	0.98554	2.397000	0.81536	0.462000	0.41574	GGT		0.363	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			7	84	0	0	0	0.361761	0	7	84					C	120941872	G	C	120941872	3	2	170	1	0	0	0	0	1	0	0	0	15356	1348	47	4	1017	4	STXBP5L	3	120941872	Missense_Mutation	SNP	G	TCGA-E3-A3E3-01A-11D-A20C-08		120941872	77080558	4	3581											
NFXL1	152518	broad.mit.edu	37	chr4	47916171	47916171	+	Frame_Shift_Del	DEL	C	C	-													agggggcggcagtggcccgtCcccgggatcggcctcggcca							TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chr4:47916171delC	ENST00000507489.1	-	2	226	c.50delG	c.(49-51)ggafs	p.G17fs	NFXL1_ENST00000381538.3_Frame_Shift_Del_p.G17fs|NFXL1_ENST00000329043.3_Frame_Shift_Del_p.G17fs	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	17						integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						AGTGGCCCGTCCCCGGGATCG	0.647																																						ENST00000507489.1																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						c.(49-51)gafs		nuclear transcription factor, X-box binding-like 1							4	6	5					4																	47916171		2084	4148	6232	SO:0001589	frameshift_variant	152518					integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:47916171delC	AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"ovarian zinc finger protein"						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.50delG	4.37:g.47916171delC	ENSP00000422037:p.Gly17fs					NFXL1_ENST00000329043.3_Frame_Shift_Del_p.G17fs|NFXL1_ENST00000381538.3_Frame_Shift_Del_p.G17fs	p.G17fs	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN			2	226	-			17					B1Q2K1|Q86VG1|Q8WVH1	Frame_Shift_Del	DEL	ENST00000507489.1	37	c.50delG	CCDS3478.2																																																																																				0.647	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361636.1	NM_152995		2	4						2	4	---	---	---	---	-	47916171	C	-	47916171	7	5	170	1	0	1	0	1	0	0	0	0	10388	855	30	0	2773	0	NFXL1	4	47916171	Frame_Shift_Del	DEL	C	TCGA-E3-A3E3-01A-11D-A20C-08		47916171	143238105	5	3582											
MCM9	254394	broad.mit.edu	37	chr6	119245206	119245206	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttcaccagacttgttcgaaTcactgtcccagtgacagata	7	12	2	3			TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chr6:119245206T>A	ENST00000316316.6	-	3	677	c.391A>T	c.(391-393)Att>Ttt	p.I131F	MCM9_ENST00000316068.3_Missense_Mutation_p.I131F	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	131					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)	MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		CTTGTTCGAATCACTGTCCCA	0.448																																						ENST00000316316.6																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(391-393)Att>Ttt		minichromosome maintenance complex component 9							254	257	256					6																	119245206		2203	4300	6503	SO:0001583	missense	254394				DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr6:119245206T>A	BC031658	CCDS5121.1, CCDS56447.1	6q22.31	2009-11-16	2007-04-04	2007-04-04	ENSG00000111877	ENSG00000111877			21484	protein-coding gene	gene with protein product		610098	"minichromosome maintenance deficient domain containing 1", "chromosome 6 open reading frame 61"	MCMDC1, C6orf61		16226853, 15850810, 16495042	Standard	NM_153255		Approved	MGC35304, dJ329L24.3, FLJ20170	uc021zeh.1	Q9NXL9	OTTHUMG00000015468	ENST00000316316.6:c.391A>T	6.37:g.119245206T>A	ENSP00000314505:p.Ile131Phe					MCM9_ENST00000316068.3_Missense_Mutation_p.I131F	p.I131F	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)	3	677	-		all_cancers(87;0.122)|all_epithelial(87;0.179)	131					B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5	Missense_Mutation	SNP	ENST00000316316.6	37	c.391A>T	CCDS56447.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.725913	0.89298	.	.	ENSG00000111877	ENST00000316316;ENST00000316068;ENST00000425154	T;T;T	0.05199	3.48;3.48;3.48	5.48	5.48	0.80851	.	.	.	.	.	T	0.20577	0.0495	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.01956	-1.1240	9	0.62326	D	0.03	.	15.5716	0.76341	0.0:0.0:0.0:1.0	.	131	Q9NXL9-2	.	F	131	ENSP00000314505:I131F;ENSP00000312870:I131F;ENSP00000394776:I131F	ENSP00000312870:I131F	I	-	1	0	MCM9	119286905	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.342000	0.79310	2.072000	0.62099	0.460000	0.39030	ATT		0.448	MCM9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042005.4	NM_153255		6	285	0	0	0	0.307466	0	6	285					A	119245206	T	A	119245206	3	1	170	1	0	0	0	0	1	0	0	0	9394	1435	50	5	804	5	MCM9	6	119245206	Missense_Mutation	SNP	T	TCGA-E3-A3E3-01A-11D-A20C-08		119245206	51869861	6	3583											
DLX6	1750	broad.mit.edu	37	chr7	96635421	96635423	+	In_Frame_Del	DEL	GCC	GCC	-													cagcagcagcaacagcaacaGccgccgccgccgccgccgcc					rs527616759|rs540915866|rs570498188|rs374304439	byFrequency	TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chr7:96635421_96635423delGCC	ENST00000518156.2	+	1	562_564	c.132_134delGCC	c.(130-135)cagccg>cag	p.P53del	DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000431497.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000430404.2_RNA|DLX6_ENST00000555308.1_5'Flank			P56179	DLX6_HUMAN	distal-less homeobox 6	0					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					aacagcaacagccgccgccgccg	0.704																																						ENST00000518156.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(130-135)cag>ca		distal-less homeobox 6																																				SO:0001651	inframe_deletion	1750				nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:96635421_96635423delGCC		CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"Homeoboxes / ANTP class : NKL subclass"	2919	protein-coding gene	gene with protein product		600030	"distal-less homeo box 6"			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.132_134delGCC	7.37:g.96635430_96635432delGCC	ENSP00000428480:p.Pro53del					DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000430027.2_RNA	p.QP44del			P56179	DLX6_HUMAN			1	562_564	+	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		0					A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	In_Frame_Del	DEL	ENST00000518156.2	37	c.132_134delGCC	CCDS47647.2																																																																																				0.704	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	NM_005222		3	4						3	4	---	---	---	---	-	96635423	GCC	-	96635421	7	5	170	1	0	1	0	1	0	0	0	0	4575	962	34	0	134	0	DLX6	7	96635421	In_Frame_Del	DEL	GCC	TCGA-E3-A3E3-01A-11D-A20C-08		96635421	62503242	7	3584											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		24	40	0	0	0	0.729181	0	24	40					T	140453136	A	T	140453136	3	4	170	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E3-A3E3-01A-11D-A20C-08	43817715	140453136	18685527	8	3585											
MYH6	4624	broad.mit.edu	37	chr14	23866789	23866789	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgtctggaaggatgagcccTttttcttgcctcctttgctt	9	12	2	1			TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chr14:23866789T>C	ENST00000356287.3	-	15	1954	c.1925A>G	c.(1924-1926)aAg>aGg	p.K642R	MYH6_ENST00000405093.3_Missense_Mutation_p.K642R			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	642	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)		GGATGAGCCCTTTTTCTTGCC	0.557																																						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.(1924-1926)aAg>aGg		myosin, heavy chain 6, cardiac muscle, alpha							98	93	95					14																	23866789		2203	4300	6503	SO:0001583	missense	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.chr14:23866789T>C	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.1925A>G	14.37:g.23866789T>C	ENSP00000348634:p.Lys642Arg					MYH6_ENST00000356287.3_Missense_Mutation_p.K642R	p.K642R	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	1995	-	all_cancers(95;2.54e-05)		642			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.1925A>G	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	25.8	4.674282	0.88445	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.87571	-2.27;-2.27	4.27	4.27	0.50696	Myosin head, motor domain (2);	.	.	.	.	D	0.90393	0.6993	L	0.45470	1.425	0.58432	D	0.99999	D	0.58620	0.983	D	0.77557	0.99	D	0.90416	0.4413	9	0.49607	T	0.09	.	13.4865	0.61369	0.0:0.0:0.0:1.0	.	642	P13533	MYH6_HUMAN	R	642	ENSP00000386041:K642R;ENSP00000348634:K642R	ENSP00000348634:K642R	K	-	2	0	MYH6	22936629	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.338000	0.79269	1.933000	0.56026	0.533000	0.62120	AAG		0.557	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			3	44	0	0	0	0.150653	0	3	44					C	23866789	T	C	23866789	3	2	170	1	0	0	0	0	1	0	0	0	10038	1609	56	3	3990	3	MYH6	14	23866789	Missense_Mutation	SNP	T	TCGA-E3-A3E3-01A-11D-A20C-08		23866789	83482751	9	3586											
NFATC4	4776	broad.mit.edu	37	chr14	24845682	24845682	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcttcggctatggcatgcccCctctgtacccccagacgggg	12	16	1	1			TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chr14:24845682C>G	ENST00000250373.4	+	9	2380	c.2239C>G	c.(2239-2241)Cct>Gct	p.P747A	NFATC4_ENST00000555802.1_Missense_Mutation_p.P35A|NFATC4_ENST00000553879.1_Missense_Mutation_p.P677A|NFATC4_ENST00000539237.2_Missense_Mutation_p.P779A|NFATC4_ENST00000553708.1_Missense_Mutation_p.P747A|NFATC4_ENST00000557767.1_Missense_Mutation_p.P35A|NFATC4_ENST00000554661.1_Missense_Mutation_p.P677A|NFATC4_ENST00000554344.1_Missense_Mutation_p.P677A|NFATC4_ENST00000554473.1_Missense_Mutation_p.P282A|NFATC4_ENST00000555590.1_Missense_Mutation_p.P760A|NFATC4_ENST00000556169.1_Missense_Mutation_p.P735A|NFATC4_ENST00000557451.1_Missense_Mutation_p.P677A|NFATC4_ENST00000556759.1_Missense_Mutation_p.P282A|NFATC4_ENST00000554050.1_Missense_Mutation_p.P747A|NFATC4_ENST00000555167.1_Missense_Mutation_p.P282A|NFATC4_ENST00000424781.2_Missense_Mutation_p.P760A|NFATC4_ENST00000422617.3_Missense_Mutation_p.P735A|NFATC4_ENST00000553469.1_Missense_Mutation_p.P779A|NFATC4_ENST00000554966.1_Missense_Mutation_p.P760A|NFATC4_ENST00000554591.1_Missense_Mutation_p.P810A|NFATC4_ENST00000555453.1_Missense_Mutation_p.P735A|NFATC4_ENST00000556279.1_Missense_Mutation_p.P779A|NFATC4_ENST00000413692.2_Missense_Mutation_p.P810A|NFATC4_ENST00000555393.1_Missense_Mutation_p.P35A	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	747	Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		TGGCATGCCCCCTCTGTACCC	0.617																																						ENST00000413692.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34						c.(2428-2430)Cct>Gct		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4							49	53	52					14																	24845682		2203	4300	6503	SO:0001583	missense	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24845682C>G	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"Nuclear factor of activated T-cells"	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.2239C>G	14.37:g.24845682C>G	ENSP00000250373:p.Pro747Ala					NFATC4_ENST00000556759.1_Missense_Mutation_p.P282A|NFATC4_ENST00000556279.1_Missense_Mutation_p.P779A|NFATC4_ENST00000556169.1_Missense_Mutation_p.P735A|NFATC4_ENST00000553708.1_Missense_Mutation_p.P747A|NFATC4_ENST00000555802.1_Missense_Mutation_p.P35A|NFATC4_ENST00000553879.1_Missense_Mutation_p.P677A|NFATC4_ENST00000555590.1_Missense_Mutation_p.P760A|NFATC4_ENST00000553469.1_Missense_Mutation_p.P779A|NFATC4_ENST00000557451.1_Missense_Mutation_p.P677A|NFATC4_ENST00000555453.1_Missense_Mutation_p.P735A|NFATC4_ENST00000554050.1_Missense_Mutation_p.P747A|NFATC4_ENST00000554966.1_Missense_Mutation_p.P760A|NFATC4_ENST00000539237.2_Missense_Mutation_p.P779A|NFATC4_ENST00000557767.1_Missense_Mutation_p.P35A|NFATC4_ENST00000554473.1_Missense_Mutation_p.P282A|NFATC4_ENST00000422617.3_Missense_Mutation_p.P735A|NFATC4_ENST00000555393.1_Missense_Mutation_p.P35A|NFATC4_ENST00000554591.1_Missense_Mutation_p.P810A|NFATC4_ENST00000250373.4_Missense_Mutation_p.P747A|NFATC4_ENST00000554661.1_Missense_Mutation_p.P677A|NFATC4_ENST00000554344.1_Missense_Mutation_p.P677A|NFATC4_ENST00000555167.1_Missense_Mutation_p.P282A|NFATC4_ENST00000424781.2_Missense_Mutation_p.P760A	p.P810A	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	10	2572	+			747			Pro-rich.		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	c.2428C>G	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.990037	0.35131	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453;ENST00000554473;ENST00000556759;ENST00000555167;ENST00000557767;ENST00000555393;ENST00000555802	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.41400	3.18;3.26;3.32;3.29;3.27;3.25;3.31;3.28;3.29;3.34;3.25;3.02;3.02;2.99;2.96;2.97;2.93;3.01;1.58;1.53;1.52;1.0;1.04	5.13	4.22	0.49857	.	0.106298	0.42964	N	0.000629	T	0.26810	0.0656	N	0.19112	0.55	0.27154	N	0.961336	B;B;B;B;B;B;B;B;B;B;B;B;B	0.12013	0.001;0.001;0.0;0.001;0.0;0.001;0.001;0.003;0.005;0.001;0.001;0.003;0.0	B;B;B;B;B;B;B;B;B;B;B;B;B	0.17098	0.001;0.004;0.002;0.002;0.002;0.002;0.002;0.005;0.017;0.004;0.004;0.005;0.001	T	0.13818	-1.0495	10	0.22109	T	0.4	-3.7481	11.169	0.48560	0.0:0.8056:0.1944:0.0	.	735;735;779;779;760;760;760;810;810;735;779;810;747	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	A	810;810;760;760;760;779;779;779;747;747;747;677;677;677;735;677;735;735;282;282;282;35;35;35	ENSP00000388910:P810A;ENSP00000452039:P810A;ENSP00000451224:P760A;ENSP00000450644:P760A;ENSP00000388668:P760A;ENSP00000439350:P779A;ENSP00000452270:P779A;ENSP00000451502:P779A;ENSP00000451151:P747A;ENSP00000250373:P747A;ENSP00000450590:P747A;ENSP00000452349:P677A;ENSP00000450469:P677A;ENSP00000450733:P677A;ENSP00000451454:P735A;ENSP00000451284:P677A;ENSP00000396788:P735A;ENSP00000450686:P735A;ENSP00000450810:P282A;ENSP00000451183:P282A;ENSP00000451395:P282A;ENSP00000451801:P35A;ENSP00000451590:P35A	ENSP00000250373:P747A	P	+	1	0	NFATC4	23915522	0.991000	0.36638	1.000000	0.80357	0.997000	0.91878	0.653000	0.24902	1.351000	0.45789	0.561000	0.74099	CCT		0.617	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		16	33	0	0	0	0.624587	0	16	33					G	24845682	C	G	24845682	3	3	170	1	0	0	0	0	1	0	0	0	10365	623	22	4	2466	4	NFATC4	14	24845682	Missense_Mutation	SNP	C	TCGA-E3-A3E3-01A-11D-A20C-08	978893	24845682	82503858	10	3587											
CHD2	1106	broad.mit.edu	37	chr15	93552546	93552547	+	Frame_Shift_Ins	INS	-	-	G													tcaggagcacatcaaactctINSggaggaggtaaccactttgg							TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chr15:93552546_93552547insG	ENST00000394196.4	+	35	5653_5654	c.4585_4586insG	c.(4585-4587)tggfs	p.W1529fs	CHD2_ENST00000557381.1_Frame_Shift_Ins_p.W1529fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1529					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CATCAAACTCTGGAGGAGGTAA	0.495																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(4585-4587)gagfs		chromodomain helicase DNA binding protein 2																																				SO:0001589	frameshift_variant	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93552546_93552547insG	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.4587dupG	15.37:g.93552548_93552548dupG	ENSP00000377747:p.Trp1529fs					CHD2_ENST00000557381.1_Frame_Shift_Ins_p.E1529fs	p.E1529fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		35	5653_5654	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1529					C6G482|Q96IP5	Frame_Shift_Ins	INS	ENST00000394196.4	37	c.4585_4586insG	CCDS10374.2																																																																																				0.495	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		19	40						19	40	---	---	---	---	G	93552547	-	G	93552546	7	5	170	1	0	1	1	0	0	0	0	0	3325	1580	55	0	4723	0	CHD2	15	93552546	Frame_Shift_Ins	INS	-	TCGA-E3-A3E3-01A-11D-A20C-08		93552546	8978846	11	3588											
FBXO47	494188	broad.mit.edu	37	chr17	37101328	37101328	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatcacttcgatgtgtccaAtgatcaaggaggacattcct	9	9	2	1	rs370821382		TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chr17:37101328A>C	ENST00000378079.2	-	7	877	c.678T>G	c.(676-678)caT>caG	p.H226Q		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	226										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						GATGTGTCCAATGATCAAGGA	0.388																																						ENST00000378079.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						c.(676-678)caT>caG		F-box protein 47							154	134	141					17																	37101328		2203	4300	6503	SO:0001583	missense	494188							g.chr17:37101328A>C		CCDS32639.1	17q12	2014-08-12			ENSG00000204952	ENSG00000204952		"F-boxes /  "other""	31969	protein-coding gene	gene with protein product		609498				15723337	Standard	NM_001008777		Approved		uc002hrc.2	Q5MNV8	OTTHUMG00000178945	ENST00000378079.2:c.678T>G	17.37:g.37101328A>C	ENSP00000367319:p.His226Gln						p.H226Q	NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN			7	877	-			226					B2RTZ4	Missense_Mutation	SNP	ENST00000378079.2	37	c.678T>G	CCDS32639.1	.	.	.	.	.	.	.	.	.	.	A	17.54	3.416335	0.62511	.	.	ENSG00000204952	ENST00000378079	T	0.69561	-0.41	5.53	-3.45	0.04781	.	0.171825	0.53938	D	0.000046	T	0.60287	0.2257	L	0.60455	1.87	0.37069	D	0.898433	P	0.49961	0.93	P	0.44860	0.462	T	0.65705	-0.6103	10	0.54805	T	0.06	-3.1745	12.31	0.54924	0.6086:0.0:0.3914:0.0	.	226	Q5MNV8	FBX47_HUMAN	Q	226	ENSP00000367319:H226Q	ENSP00000367319:H226Q	H	-	3	2	FBXO47	34354854	0.506000	0.26139	0.964000	0.40570	0.948000	0.59901	-0.522000	0.06237	-0.729000	0.04875	-0.472000	0.04984	CAT		0.388	FBXO47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444073.1	NM_001008777		28	45	0	0	0	0.760397	0	28	45					C	37101328	A	C	37101328	3	2	170	1	0	0	0	0	1	0	0	0	5756	98	4	5	700	5	FBXO47	17	37101328	Missense_Mutation	SNP	A	TCGA-E3-A3E3-01A-11D-A20C-08		37101328	44093882	12	3589											
COL5A3	50509	broad.mit.edu	37	chr19	10114384	10114384	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggggtttctggttcaccctGgggagcctgggagaagggtt	18	7	2	1			TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chr19:10114384G>C	ENST00000264828.3	-	6	791	c.706C>G	c.(706-708)Cag>Gag	p.Q236E		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	236	Nonhelical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGTTCACCCTGGGGAGCCTGG	0.607																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(706-708)Cag>Gag		collagen, type V, alpha 3							96	79	85					19																	10114384		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10114384G>C	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.706C>G	19.37:g.10114384G>C	ENSP00000264828:p.Gln236Glu						p.Q236E	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		6	791	-			236			Nonhelical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.706C>G	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	G	7.530	0.658413	0.14645	.	.	ENSG00000080573	ENST00000264828	D	0.88975	-2.45	4.08	1.67	0.24075	.	1.436920	0.04656	N	0.408077	T	0.74099	0.3672	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.65249	-0.6214	10	0.02654	T	1	.	6.0507	0.19785	0.0:0.2023:0.569:0.2286	.	236	P25940	CO5A3_HUMAN	E	236	ENSP00000264828:Q236E	ENSP00000264828:Q236E	Q	-	1	0	COL5A3	9975384	0.425000	0.25498	0.026000	0.17262	0.697000	0.40408	2.581000	0.46077	1.000000	0.39049	0.456000	0.33151	CAG		0.607	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		4	42	0	0	0	0.217242	0	4	42					C	10114384	G	C	10114384	3	2	170	1	0	0	0	0	1	0	0	0	3698	1357	47	4	4779	4	COL5A3	19	10114384	Missense_Mutation	SNP	G	TCGA-E3-A3E3-01A-11D-A20C-08		10114384	49014599	13	3590											
PANX2	56666	broad.mit.edu	37	chr22	50616616	50616617	+	Frame_Shift_Ins	INS	-	-	C													ggcggagggggcgacccgggINSccccggccccgcccctgccc							TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chr22:50616616_50616617insC	ENST00000395842.2	+	2	1475_1476	c.1475_1476insC	c.(1474-1479)ggccccfs	p.GP492fs	PANX2_ENST00000159647.5_Frame_Shift_Ins_p.GP492fs	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	492					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		GGCGACCCGGGccccggccccg	0.748																																						ENST00000395842.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(1474-1476)gccfs		pannexin 2																																				SO:0001589	frameshift_variant	56666				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr22:50616616_50616617insC		CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"Ion channels / Pannexins"	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.1479dupC	22.37:g.50616620_50616620dupC	ENSP00000379183:p.Gly492fs					PANX2_ENST00000159647.5_Frame_Shift_Ins_p.A492fs	p.A492fs	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	2	1475_1476	+		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)	492					B7Z684|Q96RD5|Q9UGX8	Frame_Shift_Ins	INS	ENST00000395842.2	37	c.1475_1476insC	CCDS14085.2																																																																																				0.748	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	NM_052839		4	3						4	3	---	---	---	---	C	50616617	-	C	50616616	7	5	170	1	0	1	1	0	0	0	0	0	11421	1203	42	0	1481	0	PANX2	22	50616616	Frame_Shift_Ins	INS	-	TCGA-E3-A3E3-01A-11D-A20C-08		50616616	687950	14	3591											
PHKA2	5256	broad.mit.edu	37	chrX	18969292	18969292	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctggaggtggccccactgGtcgtcgcccaccaccgtgcc	12	18	0	0			TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chrX:18969292G>T	ENST00000379942.4	-	4	1049	c.384C>A	c.(382-384)gaC>gaA	p.D128E		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	128					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GGCCCCACTGGTCGTCGCCCA	0.607																																						ENST00000379942.4																			0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(382-384)gaC>gaA		phosphorylase kinase, alpha 2 (liver)							180	122	142					X																	18969292		2203	4300	6503	SO:0001583	missense	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18969292G>T		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.384C>A	X.37:g.18969292G>T	ENSP00000369274:p.Asp128Glu						p.D128E	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN			4	1049	-	Hepatocellular(33;0.183)		128					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.384C>A	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.945741	0.53079	.	.	ENSG00000044446	ENST00000379942	D	0.89617	-2.54	6.02	4.23	0.50019	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.86590	0.5969	M	0.72479	2.2	0.53688	D	0.999979	B	0.15719	0.014	B	0.17979	0.02	T	0.82402	-0.0475	10	0.33940	T	0.23	-26.5293	10.5585	0.45131	0.2196:0.0:0.7804:0.0	.	128	P46019	KPB2_HUMAN	E	128	ENSP00000369274:D128E	ENSP00000369274:D128E	D	-	3	2	PHKA2	18879213	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	1.934000	0.40163	2.549000	0.85964	0.600000	0.82982	GAC		0.607	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		5	83	1	0	0.00116845	0.217242	0.00129827	5	83					T	18969292	G	T	18969292	3	4	170	1	0	0	0	0	1	0	0	0	11844	1252	44	4	3443	4	PHKA2	23	18969292	Missense_Mutation	SNP	G	TCGA-E3-A3E3-01A-11D-A20C-08		18969292	136301268	15	3592											
KDM6A	7403	broad.mit.edu	37	chrX	44929202	44929202	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcctagccatggagattctAagtcaccaggtttactaagt	9	9	2	1			TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chrX:44929202A>G	ENST00000377967.4	+	17	2343	c.2302A>G	c.(2302-2304)Aag>Gag	p.K768E	KDM6A_ENST00000543216.1_Missense_Mutation_p.K689E|KDM6A_ENST00000382899.4_Missense_Mutation_p.K775E|KDM6A_ENST00000536777.1_Missense_Mutation_p.K723E	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	768	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TGGAGATTCTAAGTCACCAGG	0.473			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"D, N, F, S"	"lysine (K)-specific demethylase 6A, UTX"			"E, L"			"renal, oesophageal SCC, MM"		6	Whole gene deletion(6)	p.0?(6)	oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(2302-2304)Aag>Gag		lysine (K)-specific demethylase 6A							129	96	107					X																	44929202		2203	4300	6503	SO:0001583	missense	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44929202A>G	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.2302A>G	X.37:g.44929202A>G	ENSP00000367203:p.Lys768Glu					KDM6A_ENST00000382899.4_Missense_Mutation_p.K775E|KDM6A_ENST00000543216.1_Missense_Mutation_p.K689E|KDM6A_ENST00000536777.1_Missense_Mutation_p.K723E	p.K768E	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			17	2343	+			768					Q52LL9|Q5JVQ7	Missense_Mutation	SNP	ENST00000377967.4	37	c.2302A>G	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	A	12.32	1.902963	0.33628	.	.	ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	5.08	5.08	0.68730	.	0.322422	0.37219	N	0.002196	T	0.43433	0.1247	N	0.22421	0.69	0.49483	D	0.999793	P;D;B;B;P;B	0.61697	0.956;0.99;0.152;0.139;0.956;0.039	P;D;B;B;D;B	0.72982	0.899;0.979;0.058;0.055;0.931;0.018	T	0.23547	-1.0185	10	0.21540	T	0.41	-0.357	14.2214	0.65830	1.0:0.0:0.0:0.0	.	407;775;723;820;734;768	B4E0L8;F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550	.;.;.;.;.;KDM6A_HUMAN	E	465;768;723;775;689	ENSP00000367203:K768E;ENSP00000437405:K723E;ENSP00000372355:K775E;ENSP00000443078:K689E	ENSP00000334340:K465E	K	+	1	0	KDM6A	44814146	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.858000	0.55979	1.805000	0.52779	0.486000	0.48141	AAG		0.473	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		26	21	0	0	0	0.750413	0	26	21					G	44929202	A	G	44929202	3	3	170	1	0	0	0	0	1	0	0	0	8137	363	13	3	2368	3	KDM6A	23	44929202	Missense_Mutation	SNP	A	TCGA-E3-A3E3-01A-11D-A20C-08	25959910	44929202	110341358	16	3593											
FOXR2	139628	broad.mit.edu	37	chrX	55650462	55650462	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaagaggatctgacaaaCatttctcctttccctcagcc	7	12	3	2			TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chrX:55650462C>T	ENST00000339140.3	+	1	630	c.318C>T	c.(316-318)aaC>aaT	p.N106N		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	106					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						ATCTGACAAACATTTCTCCTT	0.542																																						ENST00000339140.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(316-318)aaC>aaT		forkhead box R2							67	61	63					X																	55650462		2203	4300	6503	SO:0001819	synonymous_variant	139628				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue 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 activator activity|transcription factor binding	g.chrX:55650462C>T	BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"Forkhead boxes"	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.318C>T	X.37:g.55650462C>T							p.N106N	NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN			1	630	+			106						Silent	SNP	ENST00000339140.3	37	c.318C>T	CCDS35308.1																																																																																				0.542	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451		9	13	0	0	0	0.307466	0	9	13					T	55650462	C	T	55650462	2	4	170	1	0	0	0	0	0	0	0	1	6032	477	17	2		2	FOXR2	23	55650462	Silent	SNP	C	TCGA-E3-A3E3-01A-11D-A20C-08	10721260	55650462	99620098	17	3594											
LAMC2	3918	broad.mit.edu	37	chr1	183208652	183208652	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgatgcacagagggcaaAgaatggggccggggaggccc	18	9	0	3			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr1:183208652A>G	ENST00000264144.4	+	20	3088	c.3023A>G	c.(3022-3024)aAg>aGg	p.K1008R	LAMC2_ENST00000461729.1_3'UTR|LAMC2_ENST00000493293.1_Missense_Mutation_p.K1008R	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	1008	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CAGAGGGCAAAGAATGGGGCC	0.542																																						ENST00000264144.4																			0				breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(3022-3024)aAg>aGg		laminin, gamma 2							69	82	77					1																	183208652		2203	4300	6503	SO:0001583	missense	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183208652A>G	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"Laminins"	6493	protein-coding gene	gene with protein product		150292	"laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.3023A>G	1.37:g.183208652A>G	ENSP00000264144:p.Lys1008Arg					LAMC2_ENST00000493293.1_Missense_Mutation_p.K1008R|LAMC2_ENST00000461729.1_3'UTR	p.K1008R	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN			20	3088	+			1008			Domain II and I.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	c.3023A>G	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	A	9.127	1.010388	0.19277	.	.	ENSG00000058085	ENST00000493293;ENST00000264144	T;T	0.79352	2.37;-1.26	5.09	0.962	0.19643	.	0.731905	0.13646	N	0.372623	T	0.71929	0.3398	M	0.79475	2.455	0.27320	N	0.957063	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.09377	0.002;0.002;0.004	T	0.58769	-0.7578	10	0.29301	T	0.29	.	4.5268	0.11985	0.5113:0.0:0.3458:0.1429	.	1008;1008;1008	Q2M1N2;Q13753;Q13753-2	.;LAMC2_HUMAN;.	R	1008	ENSP00000432063:K1008R;ENSP00000264144:K1008R	ENSP00000264144:K1008R	K	+	2	0	LAMC2	181475275	1.000000	0.71417	0.476000	0.27291	0.074000	0.17049	2.169000	0.42434	-0.083000	0.12618	0.402000	0.26972	AAG		0.542	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		43	77	0	0	0	0.870114	0	43	77					G	183208652	A	G	183208652	3	3	171	1	0	0	0	0	1	0	0	0	8615	72	3	3	3101	3	LAMC2	1	183208652	Missense_Mutation	SNP	A	TCGA-E3-A3E5-01A-11D-A20C-08		183208652	66041969	1	3595											
CFHR4	3080	broad.mit.edu	37	chr1	196883707	196883707	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccatgacacattggactaCgaatgctacgatggatatga	9	9	0	2			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr1:196883707C>T	ENST00000367421.3	+	2	135				CFHR4_ENST00000608469.1_Intron|CFHR4_ENST00000367416.2_Silent_p.Y420Y|CFHR4_ENST00000367418.2_Silent_p.Y174Y|CFHR4_ENST00000251424.4_Silent_p.Y174Y			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						CATTGGACTACGAATGCTACG	0.393																																						ENST00000367416.2																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						c.(1258-1260)taC>taT		complement factor H-related 4							119	108	112					1																	196883707		1931	4156	6087	SO:0001627	intron_variant	10877							g.chr1:196883707C>T	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"Complement system"	4890	protein-coding gene	gene with protein product		600889	"H factor (complement)-like 3"	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-34878C>T	1.37:g.196883707C>T						CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Silent_p.Y174Y|CFHR4_ENST00000251424.4_Silent_p.Y174Y	p.Y420Y	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1					8	1397	+								Q14310|Q5T9T1	Silent	SNP	ENST00000367421.3	37	c.1260C>T																																																																																					0.393	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		5	107	0	0	0	0.248553	0	5	107					T	196883707	C	T	196883707	1	4	171	0	1	0	0	0	0	0	0	0	3287	547	19	1		1	CFHR4	1	196883707	Intron	SNP	C	TCGA-E3-A3E5-01A-11D-A20C-08	13675055	196883707	52366914	2	3596											
HEATR5B	54497	broad.mit.edu	37	chr2	37227778	37227778	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcgtgctacgaatcagagcTgtccactgtttttgaacgcc	10	11	1	2			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr2:37227778T>C	ENST00000233099.5	-	33	5591	c.5496A>G	c.(5494-5496)acA>acG	p.T1832T	HEATR5B_ENST00000354531.2_Silent_p.T1743T	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1832						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)				GAATCAGAGCTGTCCACTGTT	0.428																																						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.(5494-5496)acA>acG		HEAT repeat containing 5B							140	137	138					2																	37227778		2203	4300	6503	SO:0001819	synonymous_variant	54497						binding	g.chr2:37227778T>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.5496A>G	2.37:g.37227778T>C						HEATR5B_ENST00000354531.2_Silent_p.T1743T	p.T1832T	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			33	5591	-		all_hematologic(82;0.21)	1832					B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	37	c.5496A>G	CCDS33181.1																																																																																				0.428	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		53	98	0	0	0	0.870114	0	53	98					C	37227778	T	C	37227778	2	2	171	1	0	0	0	0	0	0	0	1	7032	1567	55	3		3	HEATR5B	2	37227778	Silent	SNP	T	TCGA-E3-A3E5-01A-11D-A20C-08		37227778	205971595	3	3597											
HDLBP	3069	broad.mit.edu	37	chr2	242179484	242179484	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ccgccccccttgccgatgagGaatttgtggtattctggctt	11	12	1	1			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr2:242179484G>C	ENST00000391975.1	-	18	2450	c.2223C>G	c.(2221-2223)ttC>ttG	p.F741L	HDLBP_ENST00000391976.2_Missense_Mutation_p.F741L|HDLBP_ENST00000310931.4_Missense_Mutation_p.F741L|HDLBP_ENST00000427183.2_Missense_Mutation_p.F708L	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	741	KH 9. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		TGCCGATGAGGAATTTGTGGT	0.557																																						ENST00000391975.1																			0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2221-2223)ttC>ttG		high density lipoprotein binding protein							173	163	166					2																	242179484		2203	4300	6503	SO:0001583	missense	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242179484G>C		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"vigilin"	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.2223C>G	2.37:g.242179484G>C	ENSP00000375836:p.Phe741Leu					HDLBP_ENST00000391976.2_Missense_Mutation_p.F741L|HDLBP_ENST00000310931.4_Missense_Mutation_p.F741L|HDLBP_ENST00000427183.2_Missense_Mutation_p.F708L	p.F741L	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	18	2450	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	741			KH 9.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.2223C>G	CCDS2547.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	23.4|23.4|23.4	4.410929|4.410929|4.410929	0.83340|0.83340|0.83340	.|.|.	.|.|.	ENSG00000115677|ENSG00000115677|ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183;ENST00000452931|ENST00000373292|ENST00000427487	T;T;T;T;T|.|.	0.27720|.|.	1.65;1.65;1.65;1.65;1.91|.|.	5.59|5.59|5.59	3.79|3.79|3.79	0.43588|0.43588|0.43588	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.75635|0.75635|0.75635	0.3876|0.3876|0.3876	M|M|M	0.84511|0.84511|0.84511	2.7|2.7|2.7	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;P|.|.	0.89917|.|.	1.0;0.767|.|.	D;P|.|.	0.74674|.|.	0.984;0.685|.|.	T|T|T	0.77986|0.77986|0.77986	-0.2381|-0.2381|-0.2381	10|5|5	0.59425|.|.	D|.|.	0.04|.|.	-19.1857|-19.1857|-19.1857	11.5681|11.5681|11.5681	0.50818|0.50818|0.50818	0.1429:0.0:0.8571:0.0|0.1429:0.0:0.8571:0.0|0.1429:0.0:0.8571:0.0	.|.|.	708;741|.|.	E7EM71;Q00341|.|.	.;VIGLN_HUMAN|.|.	L|A|C	741;741;741;708;250|550|143	ENSP00000375836:F741L;ENSP00000375837:F741L;ENSP00000312042:F741L;ENSP00000399139:F708L;ENSP00000388876:F250L|.|.	ENSP00000312042:F741L|.|.	F|P|S	-|-|-	3|1|2	2|0|0	HDLBP|HDLBP|HDLBP	241828157|241828157|241828157	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.902000|0.902000|0.902000	0.53008|0.53008|0.53008	4.432000|4.432000|4.432000	0.59922|0.59922|0.59922	1.388000|1.388000|1.388000	0.46506|0.46506|0.46506	-0.142000|-0.142000|-0.142000	0.14014|0.14014|0.14014	TTC|CCT|TCC		0.557	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		64	95	0	0	0	0.870114	0	64	95					C	242179484	G	C	242179484	3	2	171	1	0	0	0	0	1	0	0	0	7025	1165	41	4	1627	4	HDLBP	2	242179484	Missense_Mutation	SNP	G	TCGA-E3-A3E5-01A-11D-A20C-08	204951706	242179484	1019889	4	3598											
XYLB	9942	broad.mit.edu	37	chr3	38420767	38420767	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccctggggatgtggaggttCgagcactaattgaaggacaa	14	7	0	1			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr3:38420767C>T	ENST00000207870.3	+	15	1315	c.1225C>T	c.(1225-1227)Cga>Tga	p.R409*	XYLB_ENST00000472721.1_3'UTR|XYLB_ENST00000542835.1_Nonsense_Mutation_p.R272*	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	409					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|D-xylose metabolic process (GO:0042732)|generation of precursor metabolites and energy (GO:0006091)|xylulose catabolic process (GO:0005998)|xylulose metabolic process (GO:0005997)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|xylulokinase activity (GO:0004856)			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		TGTGGAGGTTCGAGCACTAAT	0.527																																						ENST00000207870.3																			0				endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24						c.(1225-1227)Cga>Tga		xylulokinase homolog (H. influenzae)							178	145	156					3																	38420767		2203	4300	6503	SO:0001587	stop_gained	9942				D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity	g.chr3:38420767C>T	AB015046	CCDS2678.1	3p22-p21.3	2006-12-18	2001-12-04		ENSG00000093217	ENSG00000093217			12839	protein-coding gene	gene with protein product		604049	"xylulokinase (H. influenzae) homolog"			9763671	Standard	NM_005108		Approved	FLJ10343, FLJ12539	uc003cic.2	O75191	OTTHUMG00000131294	ENST00000207870.3:c.1225C>T	3.37:g.38420767C>T	ENSP00000207870:p.Arg409*					XYLB_ENST00000542835.1_Nonsense_Mutation_p.R272*|XYLB_ENST00000472721.1_3'UTR	p.R409*	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)	15	1315	+			409					B2RAW4|B4DDT2|B9EH64	Nonsense_Mutation	SNP	ENST00000207870.3	37	c.1225C>T	CCDS2678.1	.	.	.	.	.	.	.	.	.	.	C	38	6.787490	0.97837	.	.	ENSG00000093217	ENST00000207870;ENST00000542835	.	.	.	5.16	2.16	0.27623	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.9287	0.19126	0.1409:0.6393:0.1371:0.0826	.	.	.	.	X	409;272	.	ENSP00000207870:R409X	R	+	1	2	XYLB	38395771	0.993000	0.37304	0.693000	0.30195	0.869000	0.49853	2.959000	0.49153	1.141000	0.42275	0.561000	0.74099	CGA		0.527	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254062.2	NM_005108		65	67	0	0	0	0.870114	0	65	67					T	38420767	C	T	38420767	4	4	171	1	0	0	0	0	0	1	0	0	17459	876	31	1	1283	1	XYLB	3	38420767	Nonsense_Mutation	SNP	C	TCGA-E3-A3E5-01A-11D-A20C-08		38420767	159601663	5	3599											
CTNNB1	1499	broad.mit.edu	37	chr3	41280634	41280634	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactcttctagatcctagctAtcgttcttttcactctggtg	7	11	5	1			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr3:41280634A>G	ENST00000349496.5	+	15	2427	c.2147A>G	c.(2146-2148)tAt>tGt	p.Y716C	CTNNB1_ENST00000453024.1_Missense_Mutation_p.Y709C|CTNNB1_ENST00000396185.3_Missense_Mutation_p.Y716C|CTNNB1_ENST00000405570.1_Missense_Mutation_p.Y716C|CTNNB1_ENST00000396183.3_Missense_Mutation_p.Y716C|CTNNB1_ENST00000471014.1_3'UTR	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	716					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|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 cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		GATCCTAGCTATCGTTCTTTT	0.493		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5		15		Dom	yes		3	3p22-p21.3	1499	"H, Mis, T"	"catenin (cadherin-associated protein), beta 1"			"E, M, O"	PLAG1		"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"	CTNNB1/PLAG1(60)	0				NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(2146-2148)tAt>tGt		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						100	90	93					3																	41280634		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41280634A>G	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.2147A>G	3.37:g.41280634A>G	ENSP00000344456:p.Tyr716Cys					CTNNB1_ENST00000396185.3_Missense_Mutation_p.Y716C|CTNNB1_ENST00000396183.3_Missense_Mutation_p.Y716C|CTNNB1_ENST00000405570.1_Missense_Mutation_p.Y716C|CTNNB1_ENST00000471014.1_3'UTR|CTNNB1_ENST00000453024.1_Missense_Mutation_p.Y709C	p.Y716C	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	15	2427	+			716					A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.2147A>G	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	A	15.10	2.733511	0.48939	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75	5.68	5.68	0.88126	.	0.052112	0.85682	D	0.000000	T	0.48241	0.1489	L	0.39898	1.24	0.58432	D	0.999999	P;P	0.46859	0.885;0.885	P;B	0.46718	0.525;0.423	T	0.48692	-0.9013	10	0.52906	T	0.07	-14.5439	15.934	0.79688	1.0:0.0:0.0:0.0	.	644;716	B4DSW9;P35222	.;CTNB1_HUMAN	C	716;716;716;709;716	ENSP00000385604:Y716C;ENSP00000379486:Y716C;ENSP00000344456:Y716C;ENSP00000411226:Y709C;ENSP00000379488:Y716C	ENSP00000344456:Y716C	Y	+	2	0	CTNNB1	41255638	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.327000	0.79147	2.164000	0.68074	0.455000	0.32223	TAT		0.493	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		4	105	0	0	0	0.217242	0	4	105					G	41280634	A	G	41280634	3	3	171	1	0	0	0	0	1	0	0	0	4016	449	16	3	2201	3	CTNNB1	3	41280634	Missense_Mutation	SNP	A	TCGA-E3-A3E5-01A-11D-A20C-08	2859867	41280634	156741796	6	3600											
MEP1A	4224	broad.mit.edu	37	chr6	46766859	46766859	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagaaatccagaaatggccTgagagacccaaacaccaggt	9	11	0	4			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr6:46766859T>C	ENST00000230588.4	+	5	212	c.203T>C	c.(202-204)cTg>cCg	p.L68P		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	68	Metalloprotease.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AGAAATGGCCTGAGAGACCCA	0.428																																						ENST00000230588.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(202-204)cTg>cCg		meprin A, alpha (PABA peptide hydrolase)							152	144	147					6																	46766859		2203	4300	6503	SO:0001583	missense	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46766859T>C		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.203T>C	6.37:g.46766859T>C	ENSP00000230588:p.Leu68Pro						p.L68P	NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	Lung(136;0.192)		5	212	+			68			Metalloprotease.		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	c.203T>C	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	T	15.26	2.779676	0.49891	.	.	ENSG00000112818	ENST00000230588	T	0.28454	1.61	5.77	5.77	0.91146	Metallopeptidase, catalytic domain (1);	0.295969	0.32459	N	0.006070	T	0.40040	0.1101	M	0.62723	1.935	0.80722	D	1	D;D	0.71674	0.998;0.991	P;P	0.62813	0.907;0.873	T	0.39981	-0.9587	10	0.87932	D	0	-5.6365	12.4895	0.55891	0.0:0.0:0.0:1.0	.	96;68	B7ZL91;Q16819	.;MEP1A_HUMAN	P	68	ENSP00000230588:L68P	ENSP00000230588:L68P	L	+	2	0	MEP1A	46874818	0.997000	0.39634	0.900000	0.35374	0.362000	0.29581	4.032000	0.57274	2.216000	0.71823	0.528000	0.53228	CTG		0.428	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		3	126	0	0	0	0.150653	0	3	126					C	46766859	T	C	46766859	3	2	171	1	0	0	0	0	1	0	0	0	9475	1580	55	3	221	3	MEP1A	6	46766859	Missense_Mutation	SNP	T	TCGA-E3-A3E5-01A-11D-A20C-08		46766859	124348208	7	3601											
ASCC3	10973	broad.mit.edu	37	chr6	101253689	101253689	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattaagaaatctatccacaAttgtaattctgttctggagg	7	6	3	1			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr6:101253689A>G	ENST00000369162.2	-	5	1213	c.869T>C	c.(868-870)aTt>aCt	p.I290T	ASCC3_ENST00000522650.1_Missense_Mutation_p.I290T	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	290					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TCTATCCACAATTGTAATTCT	0.328																																						ENST00000369162.2																			0				breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92						c.(868-870)aTt>aCt		activating signal cointegrator 1 complex subunit 3							60	60	60					6																	101253689		2203	4289	6492	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101253689A>G	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"RNA helicase family"	614217	"helicase, ATP binding 1"	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.869T>C	6.37:g.101253689A>G	ENSP00000358159:p.Ile290Thr					ASCC3_ENST00000522650.1_Missense_Mutation_p.I290T	p.I290T	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	5	1213	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	290					E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.869T>C	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	A	19.81	3.895778	0.72639	.	.	ENSG00000112249	ENST00000369162;ENST00000522650	T;T	0.45276	0.9;0.9	5.32	5.32	0.75619	.	0.124030	0.53938	D	0.000060	T	0.46776	0.1410	M	0.70275	2.135	0.80722	D	1	P;D	0.59767	0.919;0.986	P;P	0.53062	0.477;0.717	T	0.55237	-0.8172	10	0.87932	D	0	.	15.2754	0.73737	1.0:0.0:0.0:0.0	.	290;290	E7EW23;Q8N3C0	.;HELC1_HUMAN	T	290	ENSP00000358159:I290T;ENSP00000430769:I290T	ENSP00000358159:I290T	I	-	2	0	ASCC3	101360410	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.194000	0.77789	2.010000	0.58986	0.383000	0.25322	ATT		0.328	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		21	20	0	0	0	0.608945	0	21	20					G	101253689	A	G	101253689	3	3	171	1	0	0	0	0	1	0	0	0	1033	101	4	3	5891	3	ASCC3	6	101253689	Missense_Mutation	SNP	A	TCGA-E3-A3E5-01A-11D-A20C-08	54486830	101253689	69861378	8	3602											
DYNC1I1	1780	broad.mit.edu	37	chr7	95664979	95664979	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagcctgtcgctgttaccGgaatggctttcccaacggga	11	13	0	0			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr7:95664979G>A	ENST00000324972.6	+	13	1523	c.1330G>A	c.(1330-1332)Gga>Aga	p.G444R	DYNC1I1_ENST00000359388.4_Missense_Mutation_p.G407R|DYNC1I1_ENST00000497626.1_3'UTR|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.G427R|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.G407R|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.G427R|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.G424R	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	444					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CGCTGTTACCGGAATGGCTTT	0.493																																						ENST00000324972.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54						c.(1330-1332)Gga>Aga		dynein, cytoplasmic 1, intermediate chain 1							282	225	244					7																	95664979		2203	4300	6503	SO:0001583	missense	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95664979G>A	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"Cytoplasmic dyneins", "WD repeat domain containing"	2963	protein-coding gene	gene with protein product		603772	"dynein, cytoplasmic, intermediate polypeptide 1"	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1330G>A	7.37:g.95664979G>A	ENSP00000320130:p.Gly444Arg					DYNC1I1_ENST00000457059.1_Missense_Mutation_p.G427R|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.G407R|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.G407R|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.G427R|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.G424R|DYNC1I1_ENST00000497626.1_3'UTR	p.G444R	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		13	1523	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		444					B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	c.1330G>A	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	G	9.509	1.105214	0.20632	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	D;D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6;-1.6	5.1	5.1	0.69264	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.110872	0.64402	D	0.000010	T	0.68613	0.3020	N	0.03608	-0.345	0.51482	D	0.999927	B;B;B;B;B	0.22480	0.042;0.07;0.07;0.042;0.068	B;B;B;B;B	0.16722	0.007;0.016;0.016;0.007;0.016	T	0.66200	-0.5983	10	0.54805	T	0.06	-4.3923	19.0933	0.93238	0.0:0.0:1.0:0.0	.	427;424;427;444;407	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	R	427;444;407;424;407;427	ENSP00000392337:G427R;ENSP00000320130:G444R;ENSP00000438377:G407R;ENSP00000398118:G424R;ENSP00000352348:G407R;ENSP00000412444:G427R	ENSP00000320130:G444R	G	+	1	0	DYNC1I1	95502915	1.000000	0.71417	0.974000	0.42286	0.082000	0.17680	4.125000	0.57931	2.830000	0.97506	0.585000	0.79938	GGA		0.493	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		4	181	0	0	0	0.184627	0	4	181					A	95664979	G	A	95664979	3	1	171	1	0	0	0	0	1	0	0	0	4842	1117	39	1	1376	1	DYNC1I1	7	95664979	Missense_Mutation	SNP	G	TCGA-E3-A3E5-01A-11D-A20C-08		95664979	63473684	9	3603											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		42	60	0	0	0	0.859065	0	42	60					T	140453136	A	T	140453136	3	4	171	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E3-A3E5-01A-11D-A20C-08	44788157	140453136	18685527	10	3604											
TEX15	56154	broad.mit.edu	37	chr8	30695491	30695491	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgatctttgcatttcaaccTtttttggcgttaaatgattt	7	6	2	2	rs571456178		TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr8:30695491T>C	ENST00000256246.2	-	3	7234	c.7160A>G	c.(7159-7161)aAg>aGg	p.K2387R		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2387					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CATTTCAACCTTTTTTGGCGT	0.388													T|||	1	0.000199681	0	0	5008	,	,		17240	0		0	False		,,,				2504	0.001					ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(7159-7161)aAg>aGg		testis expressed 15							183	183	183					8																	30695491		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30695491T>C	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7160A>G	8.37:g.30695491T>C	ENSP00000256246:p.Lys2387Arg						p.K2387R	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	3	7234	-			2387						Missense_Mutation	SNP	ENST00000256246.2	37	c.7160A>G	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	T	7.811	0.715712	0.15306	.	.	ENSG00000133863	ENST00000256246	T	0.10477	2.87	4.42	-1.4	0.08968	.	0.973914	0.08406	N	0.950726	T	0.09247	0.0228	L	0.44542	1.39	0.09310	N	1	B	0.14012	0.009	B	0.19946	0.027	T	0.42275	-0.9461	10	0.87932	D	0	.	3.8871	0.09103	0.5401:0.1053:0.0:0.3546	.	2387	Q9BXT5	TEX15_HUMAN	R	2387	ENSP00000256246:K2387R	ENSP00000256246:K2387R	K	-	2	0	TEX15	30815033	0.000000	0.05858	0.001000	0.08648	0.241000	0.25554	0.009000	0.13219	-0.018000	0.14079	0.379000	0.24179	AAG		0.388	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			3	157	0	0	0	0.115264	0	3	157					C	30695491	T	C	30695491	3	2	171	1	0	0	0	0	1	0	0	0	15776	1609	56	3	1217	3	TEX15	8	30695491	Missense_Mutation	SNP	T	TCGA-E3-A3E5-01A-11D-A20C-08		30695491	115668531	11	3605											
MMP16	4325	broad.mit.edu	37	chr8	89053760	89053760	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcctttcctcttgaactggaAcacagtgtaaaccaatacaa	5	11	1	1			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr8:89053760A>T	ENST00000286614.6	-	10	2034	c.1753T>A	c.(1753-1755)Ttc>Atc	p.F585I		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	585					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	TTGAACTGGAACACAGTGTAA	0.443																																						ENST00000286614.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						c.(1753-1755)Ttc>Atc		matrix metallopeptidase 16 (membrane-inserted)							170	147	155					8																	89053760		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89053760A>T	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"matrix metalloproteinase 16 (membrane-inserted)", "chromosome 8 open reading frame 57"	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.1753T>A	8.37:g.89053760A>T	ENSP00000286614:p.Phe585Ile						p.F585I	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN			10	2034	-			585					B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.1753T>A	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	A	13.01	2.110162	0.37242	.	.	ENSG00000156103	ENST00000286614	T	0.32023	1.47	5.62	4.47	0.54385	Peptidase M10A, matrix metallopeptidase, C-terminal (1);	0.046344	0.85682	D	0.000000	T	0.23133	0.0559	L	0.31578	0.945	0.53688	D	0.999973	B	0.09022	0.002	B	0.22152	0.038	T	0.03630	-1.1018	10	0.28530	T	0.3	.	11.3582	0.49627	0.9291:0.0:0.0709:0.0	.	585	P51512	MMP16_HUMAN	I	585	ENSP00000286614:F585I	ENSP00000286614:F585I	F	-	1	0	MMP16	89122876	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.237000	0.43061	0.968000	0.38212	0.482000	0.46254	TTC		0.443	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		4	119	0	0	0	0.184627	0	4	119					T	89053760	A	T	89053760	3	4	171	1	0	0	0	0	1	0	0	0	9655	43	2	5	74	5	MMP16	8	89053760	Missense_Mutation	SNP	A	TCGA-E3-A3E5-01A-11D-A20C-08	58358269	89053760	57310262	12	3606											
TEK	7010	broad.mit.edu	37	chr9	27192585	27192585	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gagagggtggggaagggcatCctggacctgtgagacgcttc	18	8	0	2			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr9:27192585C>G	ENST00000380036.4	+	11	2030	c.1588C>G	c.(1588-1590)Cct>Gct	p.P530A	TEK_ENST00000406359.4_Missense_Mutation_p.P487A|TEK_ENST00000519097.1_Missense_Mutation_p.P383A	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	530	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	GGAAGGGCATCCTGGACCTGT	0.517																																						ENST00000380036.4																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(1588-1590)Cct>Gct		TEK tyrosine kinase, endothelial							94	79	84					9																	27192585		2203	4300	6503	SO:0001583	missense	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27192585C>G	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11724	protein-coding gene	gene with protein product		600221	"venous malformations, multiple cutaneous and mucosal"	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.1588C>G	9.37:g.27192585C>G	ENSP00000369375:p.Pro530Ala					TEK_ENST00000406359.4_Missense_Mutation_p.P487A|TEK_ENST00000519097.1_Missense_Mutation_p.P383A	p.P530A	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	11	2030	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	530			Fibronectin type-III 1.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	c.1588C>G	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452078	0.63290	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359;ENST00000519080	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.46	5.46	0.80206	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.47852	D	0.000213	T	0.68165	0.2971	L	0.59436	1.845	0.48087	D	0.999581	D;B;D;D	0.89917	0.999;0.382;0.999;1.0	D;P;D;D	0.87578	0.998;0.549;0.998;0.998	T	0.61903	-0.6967	10	0.20519	T	0.43	.	17.4862	0.87689	0.0:1.0:0.0:0.0	.	383;563;487;530	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	A	383;530;487;340	ENSP00000430686:P383A;ENSP00000369375:P530A;ENSP00000383977:P487A;ENSP00000428337:P340A	ENSP00000369375:P530A	P	+	1	0	TEK	27182585	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.862000	0.62976	2.565000	0.86533	0.655000	0.94253	CCT		0.517	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			4	113	0	0	0	0.184627	0	4	113					G	27192585	C	G	27192585	3	3	171	1	0	0	0	0	1	0	0	0	15748	855	30	4	1630	4	TEK	9	27192585	Missense_Mutation	SNP	C	TCGA-E3-A3E5-01A-11D-A20C-08		27192585	114020846	13	3607											
PALM2	114299	broad.mit.edu	37	chr9	112705452	112705452	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatgaagaggagacgaaaaAggtgctaggctatgatgaaa	15	3	0	5			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr9:112705452A>G	ENST00000374531.2	+	7	961	c.887A>G	c.(886-888)aAg>aGg	p.K296R	AKAP2_ENST00000510514.5_Intron|PALM2_ENST00000314527.4_Missense_Mutation_p.K328R|PALM2_ENST00000448454.2_Missense_Mutation_p.K330R|PALM2-AKAP2_ENST00000302798.7_Intron|PALM2-AKAP2_ENST00000374530.3_Intron|AKAP2_ENST00000555236.1_Intron|PALM2_ENST00000483909.1_Missense_Mutation_p.K294R	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2	296					regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						GAGACGAAAAAGGTGCTAGGC	0.498																																						ENST00000448454.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						c.(988-990)aAg>aGg		paralemmin 2							153	135	141					9																	112705452		2203	4300	6503	SO:0001583	missense	114299							g.chr9:112705452A>G	AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.887A>G	9.37:g.112705452A>G	ENSP00000363656:p.Lys296Arg					PALM2_ENST00000483909.1_Missense_Mutation_p.K294R|PALM2-AKAP2_ENST00000302798.7_Intron|PALM2_ENST00000374531.2_Missense_Mutation_p.K296R|PALM2-AKAP2_ENST00000374530.3_Intron|AKAP2_ENST00000555236.1_Intron|AKAP2_ENST00000510514.5_Intron|PALM2_ENST00000314527.4_Missense_Mutation_p.K328R	p.K330R							8	989	+								A9Z1X9|Q8N9D5|Q96DU1	Missense_Mutation	SNP	ENST00000374531.2	37	c.989A>G	CCDS35099.1	.	.	.	.	.	.	.	.	.	.	A	12.53	1.965631	0.34659	.	.	ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000157654	ENST00000374531;ENST00000448454;ENST00000483909;ENST00000314527;ENST00000413420	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	6.16	5.03	0.67393	.	.	.	.	.	T	0.30727	0.0774	L	0.53617	1.68	0.80722	D	1	B;B	0.29232	0.01;0.238	B;B	0.29267	0.019;0.1	T	0.08452	-1.0721	9	0.72032	D	0.01	.	11.5662	0.50807	0.931:0.0:0.069:0.0	.	296;330	Q8IXS6;D3YTA4	PALM2_HUMAN;.	R	296;330;294;328;328	ENSP00000363656:K296R;ENSP00000400206:K330R;ENSP00000417525:K294R;ENSP00000323805:K328R;ENSP00000397839:K328R	ENSP00000397839:K328R	K	+	2	0	PALM2-AKAP2;PALM2	111745273	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.919000	0.63383	1.155000	0.42497	0.528000	0.53228	AAG		0.498	PALM2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053604.1	NM_001037293		3	113	0	0	0	0.150653	0	3	113					G	112705452	A	G	112705452	3	3	171	1	0	0	0	0	1	0	0	0	11409	72	3	3	1019	3	PALM2	9	112705452	Missense_Mutation	SNP	A	TCGA-E3-A3E5-01A-11D-A20C-08	85512867	112705452	28507979	14	3608											
GAPVD1	26130	broad.mit.edu	37	chr9	128099547	128099547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcactatgctaggccatcgCatccaccaccagatccccca	5	18	1	1			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr9:128099547C>T	ENST00000495955.1	+	17	2844	c.2554C>T	c.(2554-2556)Cat>Tat	p.H852Y	GAPVD1_ENST00000312123.9_Missense_Mutation_p.H831Y|GAPVD1_ENST00000394105.2_Missense_Mutation_p.H879Y|GAPVD1_ENST00000470056.1_Missense_Mutation_p.H852Y|GAPVD1_ENST00000265956.4_Missense_Mutation_p.H826Y|GAPVD1_ENST00000394083.2_Missense_Mutation_p.H831Y|GAPVD1_ENST00000297933.6_Missense_Mutation_p.H852Y|GAPVD1_ENST00000394104.2_Missense_Mutation_p.H852Y			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	852					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TAGGCCATCGCATCCACCACC	0.478																																						ENST00000470056.1																			0				central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2554-2556)Cat>Tat		GTPase activating protein and VPS9 domains 1							84	83	83					9																	128099547		2203	4300	6503	SO:0001583	missense	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128099547C>T		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.2554C>T	9.37:g.128099547C>T	ENSP00000419063:p.His852Tyr					GAPVD1_ENST00000495955.1_Missense_Mutation_p.H852Y|GAPVD1_ENST00000312123.9_Missense_Mutation_p.H831Y|GAPVD1_ENST00000394105.2_Missense_Mutation_p.H879Y|GAPVD1_ENST00000394083.2_Missense_Mutation_p.H831Y|GAPVD1_ENST00000394104.2_Missense_Mutation_p.H852Y|GAPVD1_ENST00000265956.4_Missense_Mutation_p.H826Y|GAPVD1_ENST00000297933.6_Missense_Mutation_p.H852Y	p.H852Y			Q14C86	GAPD1_HUMAN			15	2714	+			852					A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	37	c.2554C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.1|29.1	4.978735|4.978735	0.92982|0.92982	.|.	.|.	ENSG00000165219|ENSG00000165219	ENST00000436712|ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.66066|0.66066	0.2752|0.2752	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|P;P;P;P;P;D	.|0.53745	.|0.908;0.851;0.908;0.908;0.908;0.962	.|D;P;D;D;D;D	.|0.66716	.|0.922;0.838;0.922;0.922;0.922;0.946	T|T	0.65586|0.65586	-0.6132|-0.6132	5|9	.|0.52906	.|T	.|0.07	.|.	19.8676|19.8676	0.96824|0.96824	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|826;852;852;831;852;879	.|Q14C86-5;Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6	.|.;GAPD1_HUMAN;.;.;.;.	V|Y	688|852;879;852;826;831;852;852;852;831	.|.	.|ENSP00000265956:H826Y	A|H	+|+	2|1	0|0	GAPVD1|GAPVD1	127139368|127139368	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.994000|0.994000	0.84299|0.84299	7.487000|7.487000	0.81328|0.81328	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCA|CAT		0.478	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			22	37	0	0	0	0.639603	0	22	37					T	128099547	C	T	128099547	3	4	171	1	0	0	0	0	1	0	0	0	6239	710	25	2	2693	2	GAPVD1	9	128099547	Missense_Mutation	SNP	C	TCGA-E3-A3E5-01A-11D-A20C-08	15394095	128099547	13113884	15	3609											
EIF3F	8665	broad.mit.edu	37	chr11	8015971	8015971	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actttggcttctccttccgcAgcactttaatgggagtccct	8	13	1	0			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr11:8015971A>T	ENST00000533626.1	+	7	1279		c.e7-1		EIF3F_ENST00000449102.2_Splice_Site|EIF3F_ENST00000537635.1_Splice_Site|EIF3F_ENST00000309828.4_Splice_Site					eukaryotic translation initiation factor 3, subunit F											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCCTTCCGCAGCACTTTAAT	0.512																																						ENST00000533626.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13						c.e7-1		eukaryotic translation initiation factor 3, subunit F							92	76	81					11																	8015971		2201	4296	6497	SO:0001630	splice_region_variant	8665					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr11:8015971A>T	U94855, AK093511	CCDS7785.1	11p15.4	2010-03-10	2007-07-27	2007-07-27	ENSG00000175390	ENSG00000175390			3275	protein-coding gene	gene with protein product		603914	"eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa"	EIF3S5		9341143	Standard	NM_003754		Approved	eIF3-epsilon, eIF3-p47, eIF3f	uc001mfw.3	O00303		ENST00000533626.1:c.654-1A>T	11.37:g.8015971A>T						EIF3F_ENST00000449102.2_Splice_Site|EIF3F_ENST00000537635.1_Splice_Site|EIF3F_ENST00000309828.4_Splice_Site				O00303	EIF3F_HUMAN		Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	7	1279	+									Splice_Site	SNP	ENST00000533626.1	37		CCDS7785.1	.	.	.	.	.	.	.	.	.	.	A	14.54	2.566756	0.45694	.	.	ENSG00000175390	ENST00000533626;ENST00000537635;ENST00000309828;ENST00000538607;ENST00000449102	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2157	0.59859	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EIF3F	7972547	1.000000	0.71417	1.000000	0.80357	0.443000	0.32047	8.344000	0.90055	2.172000	0.68678	0.533000	0.62120	.		0.512	EIF3F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385713.2	NM_003754	Intron	7	26	0	0	0	0.248553	0	7	26					T	8015971	A	T	8015971	5	4	171	1	0	0	0	0	0	0	1	0	5016	202	7	5	670	5	EIF3F	11	8015971	Splice_Site	SNP	A	TCGA-E3-A3E5-01A-11D-A20C-08		8015971	126990545	16	3610											
LDHA	3939	broad.mit.edu	37	chr11	18421059	18421059	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggatctccaacatggcagcCttttccttagaacaccaaag	7	12	1	1			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr11:18421059C>G	ENST00000422447.3	+	3	481	c.208C>G	c.(208-210)Ctt>Gtt	p.L70V	LDHA_ENST00000540430.1_Missense_Mutation_p.L99V|LDHA_ENST00000379412.5_Missense_Mutation_p.L70V|LDHA_ENST00000227157.4_Missense_Mutation_p.L70V|LDHA_ENST00000396222.2_Missense_Mutation_p.L70V|LDHA_ENST00000430553.2_Missense_Mutation_p.L70V|LDHA_ENST00000542179.1_Missense_Mutation_p.L70V	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	70					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|cellular response to extracellular stimulus (GO:0031668)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	L-lactate dehydrogenase activity (GO:0004459)			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12						ACATGGCAGCCTTTTCCTTAG	0.378																																						ENST00000422447.3																			0				central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12						c.(208-210)Ctt>Gtt		lactate dehydrogenase A	NADH(DB00157)						124	115	118					11																	18421059		2199	4293	6492	SO:0001583	missense	3939				glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding	g.chr11:18421059C>G	X02152	CCDS7839.1, CCDS44549.1, CCDS53609.1, CCDS53610.1, CCDS53611.1	11p15.1	2012-10-02			ENSG00000134333	ENSG00000134333	1.1.1.27		6535	protein-coding gene	gene with protein product		150000				3000353	Standard	NM_005566		Approved		uc010rdd.2	P00338	OTTHUMG00000167721	ENST00000422447.3:c.208C>G	11.37:g.18421059C>G	ENSP00000395337:p.Leu70Val					LDHA_ENST00000430553.2_Missense_Mutation_p.L70V|LDHA_ENST00000396222.2_Missense_Mutation_p.L70V|LDHA_ENST00000227157.4_Missense_Mutation_p.L70V|LDHA_ENST00000379412.5_Missense_Mutation_p.L70V|LDHA_ENST00000542179.1_Missense_Mutation_p.L70V|LDHA_ENST00000540430.1_Missense_Mutation_p.L99V	p.L70V	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN			3	481	+			70					B4DKQ2|B7Z5E3|D3DQY3|F8W819|Q53G53|Q6IBM7|Q6ZNV1|Q9UDE8|Q9UDE9	Missense_Mutation	SNP	ENST00000422447.3	37	c.208C>G	CCDS7839.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795916	0.70452	.	.	ENSG00000134333	ENST00000422447;ENST00000543445;ENST00000430553;ENST00000396222;ENST00000535451;ENST00000227157;ENST00000478970;ENST00000495052;ENST00000540430;ENST00000379412;ENST00000542179	D;D;D;D;D;D;D;D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34	5.03	5.03	0.67393	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.83344	0.5234	L	0.45228	1.405	0.80722	D	1	B;B;B;B	0.20780	0.031;0.048;0.006;0.012	B;B;B;B	0.25884	0.026;0.064;0.02;0.016	T	0.77574	-0.2537	10	0.13853	T	0.58	-3.8792	18.9079	0.92471	0.0:1.0:0.0:0.0	.	99;70;70;70	B7Z5E3;B4DKQ2;F8W819;P00338	.;.;.;LDHA_HUMAN	V	70;70;70;70;70;70;70;70;99;70;70	ENSP00000395337:L70V;ENSP00000440161:L70V;ENSP00000406172:L70V;ENSP00000379524:L70V;ENSP00000444292:L70V;ENSP00000227157:L70V;ENSP00000441241:L70V;ENSP00000446415:L70V;ENSP00000445175:L99V;ENSP00000368722:L70V;ENSP00000445331:L70V	ENSP00000227157:L70V	L	+	1	0	LDHA	18377635	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.523000	0.81856	2.768000	0.95171	0.655000	0.94253	CTT		0.378	LDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258172.2	NM_005566		52	79	0	0	0	0.870114	0	52	79					G	18421059	C	G	18421059	3	3	171	1	0	0	0	0	1	0	0	0	8698	681	24	4	305	4	LDHA	11	18421059	Missense_Mutation	SNP	C	TCGA-E3-A3E5-01A-11D-A20C-08	10405088	18421059	116585457	17	3611											
TLN2	83660	broad.mit.edu	37	chr15	63069044	63069044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acatcatggtgacgctgaacGaagctgccagtgaagtgggg	15	8	1	3			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr15:63069044G>A	ENST00000561311.1	+	42	5679	c.5449G>A	c.(5449-5451)Gaa>Aaa	p.E1817K	TLN2_ENST00000472902.1_Missense_Mutation_p.E210K|TLN2_ENST00000306829.6_Missense_Mutation_p.E1817K			Q9Y4G6	TLN2_HUMAN	talin 2	1817					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GACGCTGAACGAAGCTGCCAG	0.567																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(5449-5451)Gaa>Aaa		talin 2							105	85	91					15																	63069044		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63069044G>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.5449G>A	15.37:g.63069044G>A	ENSP00000453508:p.Glu1817Lys					TLN2_ENST00000306829.6_Missense_Mutation_p.E1817K|TLN2_ENST00000472902.1_Missense_Mutation_p.E210K	p.E1817K			Q9Y4G6	TLN2_HUMAN			42	5679	+			1817					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.5449G>A	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289539	0.59976	.	.	ENSG00000171914	ENST00000306829	T	0.67345	-0.26	5.48	5.48	0.80851	.	0.095557	0.64402	D	0.000001	T	0.80454	0.4626	M	0.74546	2.27	0.80722	D	1	P;D	0.76494	0.79;0.999	B;D	0.81914	0.444;0.995	T	0.75271	-0.3376	10	0.12430	T	0.62	-23.2006	18.9631	0.92684	0.0:0.0:1.0:0.0	.	861;1817	G1UI21;Q9Y4G6	.;TLN2_HUMAN	K	1817	ENSP00000303476:E1817K	ENSP00000303476:E1817K	E	+	1	0	TLN2	60856097	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.768000	0.98965	2.567000	0.86603	0.563000	0.77884	GAA		0.567	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			3	84	0	0	0	0.150653	0	3	84					A	63069044	G	A	63069044	3	1	171	1	0	0	0	0	1	0	0	0	15945	1059	37	1	5607	1	TLN2	15	63069044	Missense_Mutation	SNP	G	TCGA-E3-A3E5-01A-11D-A20C-08		63069044	39462348	18	3612											
TCAP	8557	broad.mit.edu	37	chr17	37822184	37822184	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaggaggagcgtgaggacaCccccatccagcttcaggagc	13	13	1	1			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr17:37822184C>T	ENST00000309889.2	+	2	1499	c.326C>T	c.(325-327)aCc>aTc	p.T109I	TCAP_ENST00000578283.1_Missense_Mutation_p.T85I|PNMT_ENST00000581428.1_5'Flank|PNMT_ENST00000269582.2_5'Flank|PNMT_ENST00000394246.1_5'Flank			O15273	TELT_HUMAN	titin-cap	109					adult heart development (GO:0007512)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of mechanical stimulus (GO:0050982)|detection of muscle stretch (GO:0035995)|muscle filament sliding (GO:0030049)|otic vesicle formation (GO:0030916)|protein complex assembly (GO:0006461)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle contraction (GO:0003009)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)	cytosol (GO:0005829)|I band (GO:0031674)|Z disc (GO:0030018)	FATZ binding (GO:0051373)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			kidney(1)|lung(1)	2	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CGTGAGGACACCCCCATCCAG	0.662																																						ENST00000309889.2																			0				kidney(1)|lung(1)	2						c.(325-327)aCc>aTc		titin-cap							33	33	33					17																	37822184		2202	4299	6501	SO:0001583	missense	8557				adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly	cytosol|Z disc	structural constituent of muscle|titin binding|titin Z domain binding	g.chr17:37822184C>T	AJ000491	CCDS11342.1	17q12	2014-09-17	2012-09-20		ENSG00000173991	ENSG00000173991			11610	protein-coding gene	gene with protein product	"19 kDa sarcomeric protein"	604488	"limb girdle muscular dystrophy 2G (autosomal recessive)", "titin-cap (telethonin)"	LGMD2G		9350988, 9817758	Standard	NM_003673		Approved	T-cap, TELE, telethonin, CMD1N	uc002hsh.3	O15273	OTTHUMG00000133215	ENST00000309889.2:c.326C>T	17.37:g.37822184C>T	ENSP00000312624:p.Thr109Ile					TCAP_ENST00000578283.1_Missense_Mutation_p.T85I	p.T109I			O15273	TELT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		2	1499	+	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		109					Q96L27	Missense_Mutation	SNP	ENST00000309889.2	37	c.326C>T	CCDS11342.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.514521	0.27123	.	.	ENSG00000173991	ENST00000309889	D	0.86956	-2.19	5.71	5.71	0.89125	.	0.165133	0.53938	D	0.000051	D	0.89118	0.6624	N	0.19112	0.55	0.46478	D	0.999065	D	0.76494	0.999	D	0.75020	0.985	D	0.90595	0.4540	10	0.72032	D	0.01	-28.1021	18.616	0.91303	0.0:1.0:0.0:0.0	.	109	O15273	TELT_HUMAN	I	109	ENSP00000312624:T109I	ENSP00000312624:T109I	T	+	2	0	TCAP	35075710	0.649000	0.27322	0.998000	0.56505	0.047000	0.14425	2.277000	0.43417	2.695000	0.91970	0.462000	0.41574	ACC		0.662	TCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256942.1	NM_003673		17	15	0	0	0	0.500413	0	17	15					T	37822184	C	T	37822184	3	4	171	1	0	0	0	0	1	0	0	0	15663	507	18	2	332	2	TCAP	17	37822184	Missense_Mutation	SNP	C	TCGA-E3-A3E5-01A-11D-A20C-08		37822184	43373026	19	3613											
DNAH17	8632	broad.mit.edu	37	chr17	76464923	76464923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcaggaacaccgagggaaCgttcttcacggcagccttta	10	12	3	0			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr17:76464923C>T	ENST00000585328.1	-	55	8663	c.8539G>A	c.(8539-8541)Gtt>Att	p.V2847I	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.V2838I	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2838	AAA 4. {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(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACCGAGGGAACGTTCTTCACG	0.542																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(8512-8514)Gtt>Att		dynein, axonemal, heavy chain 17							81	86	84					17																	76464923		2099	4207	6306	SO:0001583	missense	8632							g.chr17:76464923C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.8539G>A	17.37:g.76464923C>T	ENSP00000465516:p.Val2847Ile					DNAH17_ENST00000585328.1_Missense_Mutation_p.V2847I|DNAH17_ENST00000586052.1_5'UTR	p.V2838I					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		55	8636	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.8512G>A		.	.	.	.	.	.	.	.	.	.	T	1.910	-0.450907	0.04572	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.42513	0.97	4.99	-0.0733	0.13735	.	.	.	.	.	T	0.15219	0.0367	N	0.04260	-0.245	0.26065	N	0.981303	.	.	.	.	.	.	T	0.22556	-1.0213	7	0.18276	T	0.48	.	3.4582	0.07523	0.109:0.4773:0.1074:0.3063	.	.	.	.	I	2847;2838	ENSP00000374490:V2838I	ENSP00000300671:V2847I	V	-	1	0	DNAH17	73976518	0.001000	0.12720	0.884000	0.34674	0.330000	0.28571	0.033000	0.13754	0.171000	0.19730	-1.859000	0.00561	GTT		0.542	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		3	77	0	0	0	0.150653	0	3	77					T	76464923	C	T	76464923	3	4	171	1	0	0	0	0	1	0	0	0	4601	536	19	1	4942	1	DNAH17	17	76464923	Missense_Mutation	SNP	C	TCGA-E3-A3E5-01A-11D-A20C-08	38642739	76464923	4730287	20	3614											
ANKRD30B	374860	broad.mit.edu	37	chr18	14850291	14850291	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attagacccgaagagcaactTaggaaaaagttagaagtgaa	10	5	0	4			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr18:14850291T>C	ENST00000358984.4	+	35	3297	c.3117T>C	c.(3115-3117)ctT>ctC	p.L1039L		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1039										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AAGAGCAACTTAGGAAAAAGT	0.294																																						ENST00000358984.4																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(3115-3117)ctT>ctC		ankyrin repeat domain 30B							70	61	64					18																	14850291		692	1574	2266	SO:0001819	synonymous_variant	374860							g.chr18:14850291T>C	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"Ankyrin repeat domain containing"	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.3117T>C	18.37:g.14850291T>C							p.L1039L	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			35	3297	+			1124					B4DGP1|F8WAG3|Q4G175	Silent	SNP	ENST00000358984.4	37	c.3117T>C	CCDS54182.1																																																																																				0.294	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		13	13	0	0	0	0.457914	0	13	13					C	14850291	T	C	14850291	2	2	171	1	0	0	0	0	0	0	0	1	659	1741	61	3		3	ANKRD30B	18	14850291	Silent	SNP	T	TCGA-E3-A3E5-01A-11D-A20C-08		14850291	63226957	21	3615											
OAZ1	4946	broad.mit.edu	37	chr19	2272779	2272779	+	Frame_Shift_Del	DEL	C	C	-													gaggagcagctgcgagccgaCcatgtcttcatttgcttcca							TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr19:2272779delC	ENST00000602676.2	+	5	589	c.510delC	c.(508-510)gacfs	p.D170fs	OAZ1_ENST00000322297.4_Frame_Shift_Del_p.D169fs|OAZ1_ENST00000583542.4_Frame_Shift_Del_p.D178fs|OAZ1_ENST00000588673.2_Frame_Shift_Del_p.D199fs|OAZ1_ENST00000582888.4_Frame_Shift_Del_p.D168fs			P54368	OAZ1_HUMAN	ornithine decarboxylase antizyme 1	170					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|polyamine biosynthetic process (GO:0006596)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein catabolic process (GO:0045732)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cytosol (GO:0005829)	ornithine decarboxylase inhibitor activity (GO:0008073)			endometrium(1)|lung(2)	3		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)	L-Ornithine(DB00129)	TGCGAGCCGACCATGTCTTCA	0.632																																						ENST00000583542.3																			0				endometrium(1)|lung(2)	3						c.(532-534)gafs		ornithine decarboxylase antizyme 1	L-Ornithine(DB00129)						16	19	18					19																	2272779		2054	4059	6113	SO:0001589	frameshift_variant	4946				polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	ornithine decarboxylase inhibitor activity	g.chr19:2272779delC		CCDS58639.1	19p13.3	2008-07-17				ENSG00000104904			8095	protein-coding gene	gene with protein product	"antizyme 1"	601579		OAZ		7811704, 8954789	Standard	NM_004152		Approved	AZI, MGC138338	uc002lvk.3	P54368		ENST00000602676.2:c.510delC	19.37:g.2272779delC	ENSP00000473381:p.Asp170fs					OAZ1_ENST00000592727.1_3'UTR|OAZ1_ENST00000602676.1_Frame_Shift_Del_p.D170fs|OAZ1_ENST00000582888.3_Frame_Shift_Del_p.D168fs|OAZ1_ENST00000322297.4_Frame_Shift_Del_p.D169fs	p.D178fs			P54368	OAZ1_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)	5	613	+		Hepatocellular(1079;0.137)	170					O43382|Q14989|Q92595|Q9UPL9	Frame_Shift_Del	DEL	ENST00000602676.2	37	c.534delC	CCDS58639.1																																																																																				0.632	OAZ1-002	NOVEL	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467467.2	NM_004152		2	4						2	4	---	---	---	---	-	2272779	C	-	2272779	7	5	171	1	0	1	0	1	0	0	0	0	10804	506	18	0	525	0	OAZ1	19	2272779	Frame_Shift_Del	DEL	C	TCGA-E3-A3E5-01A-11D-A20C-08		2272779	56856204	22	3616											
ATP5SL	55101	broad.mit.edu	37	chr19	41939275	41939276	+	Frame_Shift_Del	DEL	GA	GA	-													gccagtgggtagaggcggctGagacaccagtcgtccacgtg							TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr19:41939275_41939276delGA	ENST00000221943.9	-	5	502_503	c.497_498delTC	c.(496-498)ctcfs	p.L166fs	ATP5SL_ENST00000595425.1_Frame_Shift_Del_p.L139fs|ATP5SL_ENST00000301183.11_Intron|ATP5SL_ENST00000597457.1_Intron|ATP5SL_ENST00000590641.2_Frame_Shift_Del_p.L145fs|ATP5SL_ENST00000438807.3_Intron|ATP5SL_ENST00000592922.2_Frame_Shift_Del_p.L139fs|ATP5SL_ENST00000417807.3_Frame_Shift_Del_p.L172fs|ATP5SL_ENST00000589970.1_Intron	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN	ATP5S-like	166						mitochondrion (GO:0005739)				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						AGAGGCGGCTGAGACACCAGTC	0.683																																						ENST00000221943.9																			0				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						c.(496-498)cfs		ATP5S-like																																				SO:0001589	frameshift_variant	55101							g.chr19:41939275_41939276delGA	AK001103	CCDS33032.1, CCDS54269.1, CCDS54270.1, CCDS54271.1, CCDS59389.1, CCDS59390.1	19q13.2	2007-12-13				ENSG00000105341			25496	protein-coding gene	gene with protein product						12477932	Standard	NM_001167867		Approved	FLJ10241	uc002oqv.3	Q9NW81		ENST00000221943.9:c.497_498delTC	19.37:g.41939277_41939278delGA	ENSP00000221943:p.Leu166fs					ATP5SL_ENST00000301183.11_Intron|ATP5SL_ENST00000595425.1_Frame_Shift_Del_p.L139fs|ATP5SL_ENST00000589970.1_Intron|ATP5SL_ENST00000438807.3_Intron|ATP5SL_ENST00000597457.1_Intron|ATP5SL_ENST00000592922.2_Frame_Shift_Del_p.L139fs|ATP5SL_ENST00000417807.3_Frame_Shift_Del_p.L172fs|ATP5SL_ENST00000590641.2_Frame_Shift_Del_p.L145fs	p.L166fs	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN			5	502_503	-			166					B4DDC0|B4DMZ4|B4DP55|B4DXE8|F5H4W7|K7EMF6|Q96D43	Frame_Shift_Del	DEL	ENST00000221943.9	37	c.497_498delTC	CCDS33032.1																																																																																				0.683	ATP5SL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460602.1	NM_018035		10	97						10	97	---	---	---	---	-	41939276	GA	-	41939275	7	5	171	1	0	1	0	1	0	0	0	0	1164	1277	45	0	283	0	ATP5SL	19	41939275	Frame_Shift_Del	DEL	GA	TCGA-E3-A3E5-01A-11D-A20C-08	39666496	41939275	17189708	23	3617											
TMEM160	54958	broad.mit.edu	37	chr19	47549926	47549926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatgccaggaggccattgcGgaaccaggagaggaaggctg	17	9	0	1	rs200562809		TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr19:47549926G>A	ENST00000253047.6	-	2	241	c.226C>T	c.(226-228)Cgc>Tgc	p.R76C		NM_017854.1	NP_060324.1	Q9NX00	TM160_HUMAN	transmembrane protein 160	76						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				lung(1)	1		all_cancers(25;8.13e-05)|all_lung(116;0.000901)|all_epithelial(76;0.00185)|Lung NSC(112;0.00215)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;5.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;6.95e-05)|Epithelial(262;0.00363)|GBM - Glioblastoma multiforme(486;0.0242)		AGGCCATTGCGGAACCAGGAG	0.612													G|||	1	0.000199681	0	0.0014	5008	,	,		17034	0		0	False		,,,				2504	0					ENST00000253047.6																			0				lung(1)	1						c.(226-228)Cgc>Tgc		transmembrane protein 160							87	79	81					19																	47549926		2203	4300	6503	SO:0001583	missense	54958					integral to membrane		g.chr19:47549926G>A	AK000519	CCDS12695.1	19q13.32	2008-02-05				ENSG00000130748			26042	protein-coding gene	gene with protein product						12477932	Standard	XM_005259027		Approved	FLJ20512	uc002pfz.3	Q9NX00		ENST00000253047.6:c.226C>T	19.37:g.47549926G>A	ENSP00000253047:p.Arg76Cys						p.R76C	NM_017854.1	NP_060324.1	Q9NX00	TM160_HUMAN		all cancers(93;5.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;6.95e-05)|Epithelial(262;0.00363)|GBM - Glioblastoma multiforme(486;0.0242)	2	241	-		all_cancers(25;8.13e-05)|all_lung(116;0.000901)|all_epithelial(76;0.00185)|Lung NSC(112;0.00215)|all_neural(266;0.0652)|Ovarian(192;0.15)	76					Q9BU41	Missense_Mutation	SNP	ENST00000253047.6	37	c.226C>T	CCDS12695.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	14.02	2.412084	0.42817	.	.	ENSG00000130748	ENST00000253047	T	0.70749	-0.51	4.69	3.6	0.41247	.	0.066456	0.56097	D	0.000037	T	0.67739	0.2925	N	0.08118	0	0.58432	D	0.999995	D	0.89917	1.0	D	0.83275	0.996	T	0.73483	-0.3968	10	0.87932	D	0	-16.9596	11.761	0.51903	0.0:0.0:0.8127:0.1873	.	76	Q9NX00	TM160_HUMAN	C	76	ENSP00000253047:R76C	ENSP00000253047:R76C	R	-	1	0	TMEM160	52241766	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	2.396000	0.44468	2.449000	0.82847	0.305000	0.20034	CGC		0.612	TMEM160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466666.1	NM_017854		4	186	0	0	0	0.184627	0	4	186					A	47549926	G	A	47549926	3	1	171	1	0	0	0	0	1	0	0	0	16072	1116	39	1	348	1	TMEM160	19	47549926	Missense_Mutation	SNP	G	TCGA-E3-A3E5-01A-11D-A20C-08	5610651	47549926	11579057	24	3618											
DOK1	1796	broad.mit.edu	37	chr2	74784179	74784179	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcggggcctcagggagctggGactgtgggctctctagagta	18	9	2	1			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr2:74784179G>A	ENST00000233668.5	+	5	2053	c.1384G>A	c.(1384-1386)Gac>Aac	p.D462N	M1AP_ENST00000464686.1_5'Flank|DOK1_ENST00000340004.6_3'UTR|DOK1_ENST00000409429.1_Missense_Mutation_p.D323N|DOK1_ENST00000480318.1_3'UTR	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	462					cell surface receptor signaling pathway (GO:0007166)|insulin receptor signaling pathway (GO:0008286)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor signaling protein activity (GO:0005057)			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						AGGGAGCTGGGACTGTGGGCT	0.592																																					Esophageal Squamous(36;520 860 12502 33616 51270)	ENST00000233668.5																			0				endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1384-1386)Gac>Aac		docking protein 1, 62kDa (downstream of tyrosine kinase 1)							47	51	50					2																	74784179		2203	4300	6503	SO:0001583	missense	1796				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding	g.chr2:74784179G>A	U70987	CCDS1954.1, CCDS56125.1	2p13	2008-05-21	2002-08-29		ENSG00000115325	ENSG00000115325			2990	protein-coding gene	gene with protein product		602919	"docking protein 1, 62kD (downstream of tyrosine kinase 1)"			9008160, 9790776, 15546884	Standard	NM_001381		Approved	p62dok	uc002sms.3	Q99704	OTTHUMG00000129956	ENST00000233668.5:c.1384G>A	2.37:g.74784179G>A	ENSP00000233668:p.Asp462Asn					DOK1_ENST00000340004.6_3'UTR|DOK1_ENST00000480318.1_3'UTR|DOK1_ENST00000409429.1_Missense_Mutation_p.D323N	p.D462N	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN			5	2053	+			462					O43204|Q53TY2|Q9UHG6	Missense_Mutation	SNP	ENST00000233668.5	37	c.1384G>A	CCDS1954.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.334634	0.24253	.	.	ENSG00000115325	ENST00000409429;ENST00000233668	T;T	0.40225	1.04;1.14	5.25	3.43	0.39272	.	0.514806	0.21006	N	0.081772	T	0.28234	0.0697	L	0.27053	0.805	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.08659	-1.0711	10	0.87932	D	0	-11.2897	7.3255	0.26553	0.0894:0.1679:0.7426:0.0	.	451;462	B4DJN1;Q99704	.;DOK1_HUMAN	N	323;462	ENSP00000387016:D323N;ENSP00000233668:D462N	ENSP00000233668:D462N	D	+	1	0	DOK1	74637687	1.000000	0.71417	0.995000	0.50966	0.010000	0.07245	1.660000	0.37397	0.788000	0.33755	0.561000	0.74099	GAC		0.592	DOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252218.3	NM_001381		6	64	0	0	0	0.001984	0	6	64					A	74784179	G	A	74784179	3	1	172	1	0	0	0	0	1	0	0	0	4696	1174	41	2	1402	2	DOK1	2	74784179	Missense_Mutation	SNP	G	TCGA-E8-A242-01A-21D-A16O-08		74784179	168415194	1	3619											
KDM3A	55818	broad.mit.edu	37	chr2	86705781	86705781	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaagagcgaaatggggaAtaaaggcaaactgcccttgt	12	7	0	1			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr2:86705781A>G	ENST00000409556.1	+	16	2604	c.2239A>G	c.(2239-2241)Ata>Gta	p.I747V	KDM3A_ENST00000312912.5_Missense_Mutation_p.I747V|KDM3A_ENST00000542128.1_Missense_Mutation_p.I695V|KDM3A_ENST00000409064.1_Missense_Mutation_p.I747V			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	747					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GAAATGGGGAATAAAGGCAAA	0.388																																					NSCLC(96;1150 1523 6936 46253 49736)	ENST00000409556.1																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						c.(2239-2241)Ata>Gta		lysine (K)-specific demethylase 3A							114	103	107					2																	86705781		2203	4300	6503	SO:0001583	missense	55818				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:86705781A>G	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"Chromatin-modifying enzymes / K-demethylases"	20815	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 2A"	611512	"jumonji domain containing 1", "jumonji domain containing 1A"	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.2239A>G	2.37:g.86705781A>G	ENSP00000386660:p.Ile747Val					KDM3A_ENST00000312912.5_Missense_Mutation_p.I747V|KDM3A_ENST00000542128.1_Missense_Mutation_p.I695V|KDM3A_ENST00000409064.1_Missense_Mutation_p.I747V	p.I747V			Q9Y4C1	KDM3A_HUMAN			16	2604	+			747					D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	ENST00000409556.1	37	c.2239A>G	CCDS1990.1	.	.	.	.	.	.	.	.	.	.	A	19.80	3.895093	0.72639	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.65549	-0.15;-0.15;-0.15;-0.16	5.73	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.73845	0.3639	L	0.58669	1.825	0.40701	D	0.982488	D;D	0.67145	0.964;0.996	D;D	0.81914	0.94;0.995	T	0.75488	-0.3300	10	0.62326	D	0.03	.	11.4362	0.50070	0.8649:0.0:0.0:0.1351	.	695;747	F5H070;Q9Y4C1	.;KDM3A_HUMAN	V	747;747;747;747;695	ENSP00000386660:I747V;ENSP00000323659:I747V;ENSP00000386516:I747V;ENSP00000438324:I695V	ENSP00000323659:I747V	I	+	1	0	KDM3A	86559292	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.983000	0.93477	0.974000	0.38366	0.533000	0.62120	ATA		0.388	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		11	80	0	0	0	0.008291	0	11	80					G	86705781	A	G	86705781	3	3	172	1	0	0	0	0	1	0	0	0	8126	101	4	3	2293	3	KDM3A	2	86705781	Missense_Mutation	SNP	A	TCGA-E8-A242-01A-21D-A16O-08	11921602	86705781	156493592	2	3620											
GPR45	11250	broad.mit.edu	37	chr2	105859029	105859029	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagtcggacagcctggacctGcggcagctcaccagggcggg	16	14	1	0			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr2:105859029G>C	ENST00000258456.1	+	1	830	c.714G>C	c.(712-714)ctG>ctC	p.L238L		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						GCCTGGACCTGCGGCAGCTCA	0.647																																						ENST00000258456.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						c.(712-714)ctG>ctC		G protein-coupled receptor 45							76	81	79					2																	105859029		2203	4300	6503	SO:0001819	synonymous_variant	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105859029G>C	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"GPCR / Class A : Orphans"	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.714G>C	2.37:g.105859029G>C							p.L238L	NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN			1	830	+			238					Q6NWS4|Q6NXU6	Silent	SNP	ENST00000258456.1	37	c.714G>C	CCDS2066.1																																																																																				0.647	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		3	80	0	0	0	0.004672	0	3	80					C	105859029	G	C	105859029	2	2	172	1	0	0	0	0	0	0	0	1	6696	1306	46	4		4	GPR45	2	105859029	Silent	SNP	G	TCGA-E8-A242-01A-21D-A16O-08	19153248	105859029	137340344	3	3621											
SP140L	93349	broad.mit.edu	37	chr2	231264857	231264857	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctagatgagaaacttggatGagtgtgaggtgtgccgggac	16	5	1	4			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr2:231264857G>A	ENST00000415673.2	+	15	1299	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K	SP140L_ENST00000396563.4_Missense_Mutation_p.E370K|SP140L_ENST00000243810.6_Missense_Mutation_p.E405K|SP140L_ENST00000444636.1_Missense_Mutation_p.E405K	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	405						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						AAACTTGGATGAGTGTGAGGT	0.512																																						ENST00000243810.6																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						c.(1213-1215)Gag>Aag		SP140 nuclear body protein-like							182	184	183					2																	231264857		2047	4211	6258	SO:0001583	missense	93349					nucleus	DNA binding|metal ion binding	g.chr2:231264857G>A	BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"Zinc fingers, PHD-type"	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.1213G>A	2.37:g.231264857G>A	ENSP00000397911:p.Glu405Lys					SP140L_ENST00000396563.4_Missense_Mutation_p.E370K|SP140L_ENST00000415673.2_Missense_Mutation_p.E405K|SP140L_ENST00000444636.1_Missense_Mutation_p.E405K	p.E405K			Q9H930	LY10L_HUMAN			15	1213	+			405					Q2M375|Q4ZG65|Q9BSP3	Missense_Mutation	SNP	ENST00000415673.2	37	c.1213G>A	CCDS46538.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.460334	0.26248	.	.	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563	D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21	3.5	0.544	0.17185	.	.	.	.	.	T	0.81607	0.4858	L	0.54908	1.71	0.09310	N	1	B;B	0.27316	0.175;0.097	B;B	0.32289	0.084;0.143	T	0.65096	-0.6251	9	0.20046	T	0.44	.	6.0941	0.20010	0.3602:0.0:0.6398:0.0	.	370;405	Q9H930-2;Q9H930-4	.;.	K	405;405;405;370	ENSP00000395195:E405K;ENSP00000397911:E405K;ENSP00000243810:E405K;ENSP00000379811:E370K	ENSP00000243810:E405K	E	+	1	0	SP140L	230973101	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-0.426000	0.07008	-0.014000	0.14175	0.491000	0.48974	GAG		0.512	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	NM_138402		21	80	0	0	0	0.00278	0	21	80					A	231264857	G	A	231264857	3	1	172	1	0	0	0	0	1	0	0	0	14963	1291	45	2	1271	2	SP140L	2	231264857	Missense_Mutation	SNP	G	TCGA-E8-A242-01A-21D-A16O-08	125405828	231264857	11934516	4	3622											
RGS12	6002	broad.mit.edu	37	chr4	3430427	3430427	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atatcagaaaattaatttggAcgaagcagagggtatgtgaa	11	3	1	3			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr4:3430427A>T	ENST00000344733.5	+	16	4458	c.3554A>T	c.(3553-3555)gAc>gTc	p.D1185V	RGS12_ENST00000382788.3_Missense_Mutation_p.D1185V|RGS12_ENST00000338806.4_Missense_Mutation_p.D537V|RGS12_ENST00000538395.1_Intron|RGS12_ENST00000336727.3_Missense_Mutation_p.D1185V|RGS12_ENST00000306648.7_Intron	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1185					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATTAATTTGGACGAAGCAGAG	0.358																																						ENST00000336727.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(3553-3555)gAc>gTc		regulator of G-protein signaling 12							44	49	47					4																	3430427		2202	4300	6502	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3430427A>T	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"Regulators of G-protein signaling"	9994	protein-coding gene	gene with protein product		602512	"regulator of G-protein signalling 12"			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.3554A>T	4.37:g.3430427A>T	ENSP00000339381:p.Asp1185Val					RGS12_ENST00000306648.7_Intron|RGS12_ENST00000338806.4_Missense_Mutation_p.D537V|RGS12_ENST00000382788.3_Missense_Mutation_p.D1185V|RGS12_ENST00000344733.5_Missense_Mutation_p.D1185V|RGS12_ENST00000538395.1_Intron	p.D1185V	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	16	4458	+			1185					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.3554A>T	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.048517	0.75846	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000338806	T;T;T;T	0.38240	1.45;1.46;1.46;1.15	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.58764	0.2145	M	0.72118	2.19	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.97110	1.0;0.963;1.0;1.0	T	0.63097	-0.6713	10	0.66056	D	0.02	-46.5591	13.9468	0.64089	1.0:0.0:0.0:0.0	.	527;537;1185;1185	O14924-2;O14924-3;O14924;O14924-4	.;.;RGS12_HUMAN;.	V	1185;1185;1185;537	ENSP00000339381:D1185V;ENSP00000338509:D1185V;ENSP00000372238:D1185V;ENSP00000342133:D537V	ENSP00000338509:D1185V	D	+	2	0	RGS12	3400225	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.801000	0.75170	1.945000	0.56424	0.533000	0.62120	GAC		0.358	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		3	65	0	0	0	0.000248	0	3	65					T	3430427	A	T	3430427	3	4	172	1	0	0	0	0	1	0	0	0	13295	275	10	5	3670	5	RGS12	4	3430427	Missense_Mutation	SNP	A	TCGA-E8-A242-01A-21D-A16O-08		3430427	187723849	5	3623											
C4orf40	401137	broad.mit.edu	37	chr4	71024450	71024450	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgcagctgagcctgctgcaGaggcacctgttggagctgag	15	10	0	3			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr4:71024450G>A	ENST00000344526.5	+	3	670	c.481G>A	c.(481-483)Gag>Aag	p.E161K	C4orf40_ENST00000502294.1_Missense_Mutation_p.E161K|C4orf40_ENST00000502441.2_3'UTR	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN		161	Ala/Pro-rich.					extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GCCTGCTGCAGAGGCACCTGT	0.622																																						ENST00000344526.5																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(481-483)Gag>Aag		chromosome 4 open reading frame 40							28	29	29					4																	71024450		2203	4299	6502	SO:0001583	missense	401137					extracellular region		g.chr4:71024450G>A																												ENST00000344526.5:c.481G>A	4.37:g.71024450G>A	ENSP00000343172:p.Glu161Lys					C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Missense_Mutation_p.E161K	p.E161K	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN			3	670	+			161			Ala-rich.		A8MXP0|Q6MZR6	Missense_Mutation	SNP	ENST00000344526.5	37	c.481G>A	CCDS3535.1	.	.	.	.	.	.	.	.	.	.	G	9.368	1.069681	0.20147	.	.	ENSG00000187533	ENST00000502294;ENST00000344526	T;T	0.30448	1.53;1.53	3.58	-1.41	0.08941	.	.	.	.	.	T	0.13329	0.0323	N	0.14661	0.345	0.09310	N	1	B	0.25904	0.137	B	0.25506	0.061	T	0.34650	-0.9820	9	0.06494	T	0.89	.	7.7978	0.29158	0.1092:0.4249:0.4659:0.0	.	161	Q6MZM9	CD040_HUMAN	K	161	ENSP00000426249:E161K;ENSP00000343172:E161K	ENSP00000343172:E161K	E	+	1	0	C4orf40	71059039	0.140000	0.22579	0.001000	0.08648	0.010000	0.07245	1.592000	0.36676	-0.189000	0.10482	0.596000	0.82720	GAG		0.622	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251558.1			5	66	0	0	0	0.000602	0	5	66					A	71024450	G	A	71024450	3	1	172	1	0	0	0	0	1	0	0	0	2269	943	33	2	491	2	C4orf40	4	71024450	Missense_Mutation	SNP	G	TCGA-E8-A242-01A-21D-A16O-08	67594023	71024450	120129826	6	3624											
C6orf142	90523	broad.mit.edu	37	chr6	53989598	53989598	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtcccaaaacacaggggactGatctcaagacctcatcacat	7	13	3	2			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr6:53989598G>T	ENST00000274897.5	+	3	660	c.547G>T	c.(547-549)Gat>Tat	p.D183Y	MLIP_ENST00000370876.2_Missense_Mutation_p.D121Y|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000509997.1_Missense_Mutation_p.D131Y|MLIP_ENST00000358276.5_Missense_Mutation_p.D177Y|MLIP_ENST00000514921.1_Missense_Mutation_p.D183Y|MLIP_ENST00000370877.2_Missense_Mutation_p.D131Y|MLIP_ENST00000502396.1_Missense_Mutation_p.D194Y	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	183						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)		p.D183N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						ACAGGGGACTGATCTCAAGAC	0.542																																						ENST00000514921.1																			1	Substitution - Missense(1)	p.D183N(1)	haematopoietic_and_lymphoid_tissue(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						c.(547-549)Gat>Tat		muscular LMNA-interacting protein							69	61	64					6																	53989598		2203	4300	6503	SO:0001583	missense	90523					nuclear envelope|PML body	protein binding	g.chr6:53989598G>T	AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"muscle-enriched A-type lamin interacting protein"	614106	"chromosome 6 open reading frame 142"	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.547G>T	6.37:g.53989598G>T	ENSP00000274897:p.Asp183Tyr					MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000370877.2_Missense_Mutation_p.D131Y|MLIP_ENST00000502396.1_Missense_Mutation_p.D194Y|MLIP_ENST00000509997.1_Missense_Mutation_p.D131Y|MLIP_ENST00000274897.5_Missense_Mutation_p.D183Y|MLIP_ENST00000370876.2_Missense_Mutation_p.D121Y|MLIP_ENST00000358276.5_Missense_Mutation_p.D177Y	p.D183Y			Q5VWP3	MLIP_HUMAN			3	660	+			183					B7Z2N0|D6RE05|Q96H08|Q96NF7	Missense_Mutation	SNP	ENST00000274897.5	37	c.547G>T	CCDS4954.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249107	0.39797	.	.	ENSG00000146147	ENST00000274897;ENST00000514921;ENST00000370877;ENST00000509997;ENST00000370876;ENST00000447836;ENST00000511678;ENST00000503951;ENST00000502396;ENST00000358276;ENST00000370878;ENST00000514433	T;T;T;T;T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86	5.68	2.73	0.32206	.	0.357777	0.28940	N	0.013658	T	0.44767	0.1309	M	0.68952	2.095	0.09310	N	1	D;D;D;D;D	0.76494	0.995;0.995;0.999;0.999;0.993	P;D;D;D;P	0.73380	0.789;0.94;0.964;0.98;0.891	T	0.34850	-0.9812	9	.	.	.	-0.1376	5.1448	0.14979	0.1991:0.1659:0.635:0.0	.	194;194;121;183;183	Q5VWP3-3;B7ZA42;Q5VWP3-2;Q5VWP3;D6RE05	.;.;.;MLIP_HUMAN;.	Y	183;183;131;131;121;65;65;142;194;177;65;184	ENSP00000274897:D183Y;ENSP00000425142:D183Y;ENSP00000359914:D131Y;ENSP00000427584:D131Y;ENSP00000359913:D121Y;ENSP00000411917:D65Y;ENSP00000427057:D65Y;ENSP00000426830:D142Y;ENSP00000426290:D194Y;ENSP00000351019:D177Y;ENSP00000421444:D184Y	.	D	+	1	0	MLIP	54097557	0.124000	0.22315	0.007000	0.13788	0.556000	0.35491	1.664000	0.37439	0.242000	0.21303	0.650000	0.86243	GAT		0.542	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569		5	66	1	0	0.000602214	0.000602	0.000817291	5	66					T	53989598	G	T	53989598	3	4	172	1	0	0	0	0	1	0	0	0	2333	1290	45	4	557	4	C6orf142	6	53989598	Missense_Mutation	SNP	G	TCGA-E8-A242-01A-21D-A16O-08		53989598	117125469	7	3625											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		25	55	0	0	0	0.00333	0	25	55					T	140453136	A	T	140453136	3	4	172	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E8-A242-01A-21D-A16O-08		140453136	18685527	8	3626											
ENPP2	5168	broad.mit.edu	37	chr8	120575112	120575112	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcacattgcagctctcctcGttgtcaggccggtgaggcag	12	13	3	1	rs61740048	byFrequency	TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr8:120575112G>T	ENST00000075322.6	-	24	2464	c.2406C>A	c.(2404-2406)aaC>aaA	p.N802K	ENPP2_ENST00000427067.2_Missense_Mutation_p.N823K|ENPP2_ENST00000522826.1_Missense_Mutation_p.N827K|ENPP2_ENST00000259486.6_Missense_Mutation_p.N854K|ENPP2_ENST00000522167.1_Missense_Mutation_p.N437K	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	802					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.N854N(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AGCTCTCCTCGTTGTCAGGCC	0.478																																					Melanoma(20;305 879 2501 4818 31020)	ENST00000427067.2																			1	Substitution - coding silent(1)	p.N854N(1)	kidney(1)	breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(2467-2469)aaC>aaA		ectonucleotide pyrophosphatase/phosphodiesterase 2							109	97	101					8																	120575112		2203	4300	6503	SO:0001583	missense	0				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120575112G>T	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"autotaxin"	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.2406C>A	8.37:g.120575112G>T	ENSP00000075322:p.Asn802Lys					ENPP2_ENST00000259486.6_Missense_Mutation_p.N854K|ENPP2_ENST00000075322.6_Missense_Mutation_p.N802K|ENPP2_ENST00000522167.1_Missense_Mutation_p.N437K|ENPP2_ENST00000522826.1_Missense_Mutation_p.N827K	p.N823K			Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		25	2649	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		802					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.2469C>A	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.470209	0.63625	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	5.8	-6.01	0.02199	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.000000	0.85682	D	0.000000	T	0.76976	0.4063	M	0.84219	2.685	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0	T	0.80344	-0.1422	10	0.87932	D	0	.	17.8494	0.88740	0.3637:0.0:0.6363:0.0	.	340;827;802;854;437	B4DJD3;E9PHP7;Q13822;Q13822-2;E5RIA2	.;.;ENPP2_HUMAN;.;.	K	854;823;437;827;802	ENSP00000259486:N854K;ENSP00000403315:N823K;ENSP00000429476:N437K;ENSP00000428291:N827K;ENSP00000075322:N802K	ENSP00000075322:N802K	N	-	3	2	ENPP2	120644293	0.016000	0.18221	0.244000	0.24202	0.902000	0.53008	-0.636000	0.05465	-1.517000	0.01780	-0.312000	0.09012	AAC		0.478	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			8	74	1	0	0.00448238	0.004482	0.00567768	8	74					T	120575112	G	T	120575112	3	4	172	1	0	0	0	0	1	0	0	0	5130	1136	40	4	193	4	ENPP2	8	120575112	Missense_Mutation	SNP	G	TCGA-E8-A242-01A-21D-A16O-08		120575112	25788910	9	3627											
VCL	7414	broad.mit.edu	37	chr10	75868775	75868775	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accacctctgcctgaaggtgAggtccctccacctaggcctc	9	17	1	2			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr10:75868775A>G	ENST00000211998.4	+	18	2700	c.2606A>G	c.(2605-2607)gAg>gGg	p.E869G	VCL_ENST00000372755.3_Missense_Mutation_p.E869G|VCL_ENST00000417648.2_Splice_Site	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	869	Linker (Pro-rich).|Pro-rich.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					CCTGAAGGTGAGGTCCCTCCA	0.512																																						ENST00000211998.4																		VCL/ALK(4)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20						c.(2605-2607)gAg>gGg		vinculin							85	83	84					10																	75868775		2203	4300	6503	SO:0001583	missense	7414				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity	g.chr10:75868775A>G	M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"metavinculin"	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.2606A>G	10.37:g.75868775A>G	ENSP00000211998:p.Glu869Gly					VCL_ENST00000417648.2_Splice_Site|VCL_ENST00000372755.3_Missense_Mutation_p.E869G	p.E869G	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN			18	2700	+	Prostate(51;0.0112)		869			Linker (Pro-rich).|Pro-rich.		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	ENST00000211998.4	37	c.2606A>G	CCDS7341.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.5|23.5	4.420720|4.420720	0.83559|0.83559	.|.	.|.	ENSG00000035403|ENSG00000035403	ENST00000417648|ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043;ENST00000436396	.|T;T;T	.|0.37584	.|1.19;1.19;1.19	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|0.112168	.|0.64402	.|D	.|0.000014	.|T	.|0.47303	.|0.1438	L|L	0.28556|0.28556	0.865|0.865	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.62365	.|0.989;0.99;0.991	.|D;P;D	.|0.76575	.|0.979;0.852;0.988	.|T	.|0.29397	.|-1.0013	.|10	.|0.23302	.|T	.|0.38	.|.	16.1339|16.1339	0.81465|0.81465	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|796;869;869	.|F5H7T3;P18206-2;P18206	.|.;.;VINC_HUMAN	.|G	-1|869;869;776;796;541	.|ENSP00000361841:E869G;ENSP00000211998:E869G;ENSP00000415489:E541G	.|ENSP00000211998:E869G	.|E	+|+	.|2	.|0	VCL|VCL	75538781|75538781	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.988000|0.988000	0.76386|0.76386	8.658000|8.658000	0.91110|0.91110	2.271000|2.271000	0.75665|0.75665	0.533000|0.533000	0.62120|0.62120	.|GAG		0.512	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003373, NM_014000		3	94	0	0	0	0.000248	0	3	94					G	75868775	A	G	75868775	3	3	172	1	0	0	0	0	1	0	0	0	17136	304	11	3	2676	3	VCL	10	75868775	Missense_Mutation	SNP	A	TCGA-E8-A242-01A-21D-A16O-08		75868775	59665972	10	3628											
DLG5	9231	broad.mit.edu	37	chr10	79580906	79580906	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaactgggagcagattttggCcggcgacgcttctgccccag	13	12	1	1			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr10:79580906C>T	ENST00000372391.2	-	15	3341	c.3336G>A	c.(3334-3336)cgG>cgA	p.R1112R	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Intron	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1112					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CAGATTTTGGCCGGCGACGCT	0.602																																						ENST00000372391.2																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(3334-3336)cgG>cgA		discs, large homolog 5 (Drosophila)							49	53	52					10																	79580906		2203	4300	6503	SO:0001819	synonymous_variant	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79580906C>T	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.3336G>A	10.37:g.79580906C>T						DLG5_ENST00000372388.2_Intron|DLG5_ENST00000459739.1_5'UTR	p.R1112R	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		15	3341	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		1112					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	ENST00000372391.2	37	c.3336G>A	CCDS7353.2																																																																																				0.602	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			4	64	0	0	0	0.000248	0	4	64					T	79580906	C	T	79580906	2	4	172	1	0	0	0	0	0	0	0	1	4558	726	26	2		2	DLG5	10	79580906	Silent	SNP	C	TCGA-E8-A242-01A-21D-A16O-08	3712131	79580906	55953841	11	3629											
TAF6L	10629	broad.mit.edu	37	chr11	62546414	62546414	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtgactcgtgctgtgctaggGgatgatccgcaactgatgaa	14	8	0	4			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr11:62546414G>C	ENST00000294168.3	+	6	711	c.510G>C	c.(508-510)ggG>ggC	p.G170G	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	170					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						CTGTGCTAGGGGATGATCCGC	0.483																																						ENST00000294168.3																			0				endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						c.(508-510)ggG>ggC		TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa							159	132	141					11																	62546414		2201	4299	6500	SO:0001819	synonymous_variant	10629				chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity	g.chr11:62546414G>C	BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.510G>C	11.37:g.62546414G>C						TMEM223_ENST00000527073.1_Intron	p.G170G	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN			6	711	+			170					B2RAT0|Q96HA6	Silent	SNP	ENST00000294168.3	37	c.510G>C	CCDS8035.1																																																																																				0.483	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395352.1	NM_006473		3	124	0	0	0	0.004672	0	3	124					C	62546414	G	C	62546414	2	2	172	1	0	0	0	0	0	0	0	1	15528	1219	43	4		4	TAF6L	11	62546414	Silent	SNP	G	TCGA-E8-A242-01A-21D-A16O-08		62546414	72460102	12	3630											
KBTBD3	143879	broad.mit.edu	37	chr11	105924439	105924439	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatcaatcaggtgtgatTgcggcagtattttccatgaa	10	7	2	2			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr11:105924439T>C	ENST00000526793.1	-	3	1136	c.977A>G	c.(976-978)cAa>cGa	p.Q326R	KBTBD3_ENST00000531837.1_Missense_Mutation_p.Q326R|KBTBD3_ENST00000534815.1_Missense_Mutation_p.Q247R	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	322										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		CAGGTGTGATTGCGGCAGTAT	0.363																																						ENST00000526793.1																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25						c.(976-978)cAa>cGa		kelch repeat and BTB (POZ) domain containing 3							75	75	75					11																	105924439		2201	4298	6499	SO:0001583	missense	143879							g.chr11:105924439T>C	AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"BTB/POZ domain containing"	22934	protein-coding gene	gene with protein product			"BTB and kelch domain containing 3"	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.977A>G	11.37:g.105924439T>C	ENSP00000436262:p.Gln326Arg					KBTBD3_ENST00000534815.1_Missense_Mutation_p.Q247R|KBTBD3_ENST00000531837.1_Missense_Mutation_p.Q326R	p.Q326R	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)	3	1136	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	322					Q6N066|Q86X38|Q96NK5	Missense_Mutation	SNP	ENST00000526793.1	37	c.977A>G	CCDS8334.1	.	.	.	.	.	.	.	.	.	.	T	8.586	0.883379	0.17467	.	.	ENSG00000182359	ENST00000534815;ENST00000526793;ENST00000531837	T;T;T	0.66099	-0.19;-0.19;-0.19	5.97	4.85	0.62838	Kelch-type beta propeller (1);	0.370685	0.34178	N	0.004199	T	0.44008	0.1273	N	0.14661	0.345	0.24935	N	0.991894	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.35025	-0.9805	10	0.44086	T	0.13	.	11.5151	0.50515	0.0:0.0694:0.0:0.9306	.	326;322	A8K1K0;Q8NAB2	.;KBTB3_HUMAN	R	247;326;326	ENSP00000431910:Q247R;ENSP00000436262:Q326R;ENSP00000432163:Q326R	ENSP00000436262:Q326R	Q	-	2	0	KBTBD3	105429649	0.985000	0.35326	0.944000	0.38274	0.962000	0.63368	2.110000	0.41873	2.287000	0.76781	0.482000	0.46254	CAA		0.363	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388705.2	NM_152433		14	79	0	0	0	0.00499	0	14	79					C	105924439	T	C	105924439	3	2	172	1	0	0	0	0	1	0	0	0	7994	1812	63	3	865	3	KBTBD3	11	105924439	Missense_Mutation	SNP	T	TCGA-E8-A242-01A-21D-A16O-08	43378025	105924439	29082077	13	3631											
ADAMTS8	11095	broad.mit.edu	37	chr11	130286920	130286920	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttggggtcacaaatggtcccGatgtctgccacacccagggt	12	12	2	0			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr11:130286920G>A	ENST00000257359.6	-	3	1717	c.1011C>T	c.(1009-1011)atC>atT	p.I337I		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	337	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)		AAATGGTCCCGATGTCTGCCA	0.597																																						ENST00000257359.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(1009-1011)atC>atT		ADAM metallopeptidase with thrombospondin type 1 motif, 8							93	104	100					11																	130286920		2096	4232	6328	SO:0001819	synonymous_variant	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.chr11:130286920G>A	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.1011C>T	11.37:g.130286920G>A							p.I337I	NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	3	1717	-	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)	337			Peptidase M12B.		Q9NZS0	Silent	SNP	ENST00000257359.6	37	c.1011C>T	CCDS41732.1																																																																																				0.597	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		4	120	0	0	0	0.000248	0	4	120					A	130286920	G	A	130286920	2	1	172	1	0	0	0	0	0	0	0	1	272	1048	37	1		1	ADAMTS8	11	130286920	Silent	SNP	G	TCGA-E8-A242-01A-21D-A16O-08	24362481	130286920	4719596	14	3632											
OVCH1	341350	broad.mit.edu	37	chr12	29607866	29607866	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgtctgaagtgaagcaggaCctgtatttggggagaacatg	14	5	1	3			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr12:29607866C>A	ENST00000318184.5	-	21	2437	c.2438G>T	c.(2437-2439)gGt>gTt	p.G813V	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	813						extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TGAAGCAGGACCTGTATTTGG	0.378																																						ENST00000318184.5																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92						c.e21-1		ovochymase 1							102	95	97					12																	29607866		1854	4095	5949	SO:0001630	splice_region_variant	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29607866C>A	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.2438-1G>T	12.37:g.29607866C>A						OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	p.G813_splice	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN			21	2437	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		813						Splice_Site	SNP	ENST00000318184.5	37	c.2437_splice		.	.	.	.	.	.	.	.	.	.	C	16.77	3.214515	0.58452	.	.	ENSG00000187950	ENST00000318184	D	0.87256	-2.23	3.28	2.37	0.29283	.	.	.	.	.	D	0.86297	0.5899	N	0.19112	0.55	0.26551	N	0.973913	D	0.89917	1.0	D	0.72075	0.976	T	0.75772	-0.3200	9	0.54805	T	0.06	.	7.8839	0.29637	0.0:0.8688:0.0:0.1312	.	813	Q7RTY7	OVCH1_HUMAN	V	813	ENSP00000326708:G813V	ENSP00000326708:G813V	G	-	2	0	OVCH1	29499133	0.007000	0.16637	0.043000	0.18650	0.546000	0.35178	0.434000	0.21494	0.927000	0.37143	0.655000	0.94253	GGT		0.378	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378	Missense_Mutation	3	24	1	0	0.004672	0.004672	0.00578922	3	24					A	29607866	C	A	29607866	5	1	172	1	0	0	0	0	0	0	1	0	11323	521	18	4	998	4	OVCH1	12	29607866	Splice_Site	SNP	C	TCGA-E8-A242-01A-21D-A16O-08		29607866	104244029	15	3633											
PRDM4	11108	broad.mit.edu	37	chr12	108134795	108134795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctacagaaatcacacttgtGgggcttcatacccatgtgac	9	11	2	2			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr12:108134795G>A	ENST00000228437.5	-	10	2311	c.1852C>T	c.(1852-1854)Cac>Tac	p.H618Y	RP11-864J10.4_ENST00000546829.1_RNA|RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	618					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TCACACTTGTGGGGCTTCATA	0.473																																						ENST00000228437.5																			0				biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						c.(1852-1854)Cac>Tac		PR domain containing 4							149	145	146					12																	108134795		2203	4300	6503	SO:0001583	missense	11108				cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr12:108134795G>A	AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"Zinc fingers, C2H2-type"	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.1852C>T	12.37:g.108134795G>A	ENSP00000228437:p.His618Tyr					RP11-864J10.4_ENST00000546714.1_RNA	p.H618Y	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN			10	2311	-			618					Q9UFA6	Missense_Mutation	SNP	ENST00000228437.5	37	c.1852C>T	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605971	0.46527	.	.	ENSG00000110851	ENST00000228437	T	0.24151	1.87	6.03	5.11	0.69529	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.18923	0.0454	N	0.04805	-0.155	0.58432	D	0.999996	P	0.52577	0.954	P	0.52758	0.708	T	0.02053	-1.1222	10	0.02654	T	1	-1.3766	16.7665	0.85525	0.0:0.0:0.8706:0.1294	.	618	Q9UKN5	PRDM4_HUMAN	Y	618	ENSP00000228437:H618Y	ENSP00000228437:H618Y	H	-	1	0	PRDM4	106658925	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.375000	0.79646	2.861000	0.98227	0.655000	0.94253	CAC		0.473	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	NM_012406		4	167	0	0	0	0.000248	0	4	167					A	108134795	G	A	108134795	3	1	172	1	0	0	0	0	1	0	0	0	12459	1348	47	2	565	2	PRDM4	12	108134795	Missense_Mutation	SNP	G	TCGA-E8-A242-01A-21D-A16O-08	78526929	108134795	25717100	16	3634											
NALCN	259232	broad.mit.edu	37	chr13	101795522	101795522	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcgggaggcttctcaggaggCaacatgtgtcctgttgctgg	15	9	1	0			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr13:101795522C>G	ENST00000251127.6	-	17	2108	c.2027G>C	c.(2026-2028)tGc>tCc	p.C676S		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	676					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCTCAGGAGGCAACATGTGTC	0.468																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(2026-2028)tGc>tCc		sodium leak channel, non-selective							198	172	181					13																	101795522		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101795522C>G	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2027G>C	13.37:g.101795522C>G	ENSP00000251127:p.Cys676Ser						p.C676S	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			17	2108	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		676					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.2027G>C	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	6.692	0.496247	0.12762	.	.	ENSG00000102452	ENST00000251127	D	0.97186	-4.28	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.89371	0.6696	N	0.01576	-0.805	0.80722	D	1	B	0.14012	0.009	B	0.06405	0.002	D	0.86028	0.1511	10	0.06236	T	0.91	.	19.8773	0.96884	0.0:1.0:0.0:0.0	.	676	Q8IZF0	NALCN_HUMAN	S	676	ENSP00000251127:C676S	ENSP00000251127:C676S	C	-	2	0	NALCN	100593523	1.000000	0.71417	1.000000	0.80357	0.168000	0.22595	5.668000	0.68074	2.686000	0.91538	0.650000	0.86243	TGC		0.468	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		8	96	0	0	0	0.00308	0	8	96					G	101795522	C	G	101795522	3	3	172	1	0	0	0	0	1	0	0	0	10148	710	25	4	3301	4	NALCN	13	101795522	Missense_Mutation	SNP	C	TCGA-E8-A242-01A-21D-A16O-08		101795522	13374356	17	3635											
HEATR5A	25938	broad.mit.edu	37	chr14	31765218	31765218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtagacaaaataaacactGtgatagcagtaagtagactg	10	5	0	3			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr14:31765218G>A	ENST00000389961.3	-	33	5497	c.5498C>T	c.(5497-5499)aCa>aTa	p.T1833I	HEATR5A_ENST00000439348.1_Missense_Mutation_p.T1758I|HEATR5A_ENST00000439727.1_Missense_Mutation_p.T1546I|HEATR5A_ENST00000543095.2_Missense_Mutation_p.T1839I|RP11-596D21.1_ENST00000551799.1_RNA			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1833										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		AATAAACACTGTGATAGCAGT	0.348																																						ENST00000543095.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26						c.(5515-5517)aCa>aTa		HEAT repeat containing 5A							135	131	132					14																	31765218		1899	4123	6022	SO:0001583	missense	25938						binding	g.chr14:31765218G>A	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 125"	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.5498C>T	14.37:g.31765218G>A	ENSP00000374611:p.Thr1833Ile					RP11-596D21.1_ENST00000551799.1_RNA|HEATR5A_ENST00000439727.1_Missense_Mutation_p.T1546I|HEATR5A_ENST00000439348.1_Missense_Mutation_p.T1758I|HEATR5A_ENST00000389961.3_Missense_Mutation_p.T1833I	p.T1839I	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	34	5700	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		1833					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37	c.5516C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.951783|3.951783	0.73787|0.73787	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000538864|ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095	.|T;T;T;T	.|0.66099	.|-0.19;-0.14;-0.19;-0.19	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.76285	.|0.3966	M|M	0.76002|0.76002	2.32|2.32	0.80722|0.80722	D|D	1|1	.|D	.|0.63046	.|0.992	.|P	.|0.62885	.|0.908	.|T	.|0.78578	.|-0.2150	.|10	.|0.87932	.|D	.|0	.|.	13.2751|13.2751	0.60182|0.60182	0.0722:0.0:0.9278:0.0|0.0722:0.0:0.9278:0.0	.|.	.|1758	.|Q86XA9-2	.|.	X|I	1392|1833;1758;1546;1839	.|ENSP00000374611:T1833I;ENSP00000405407:T1758I;ENSP00000408681:T1546I;ENSP00000437968:T1839I	.|ENSP00000374611:T1833I	Q|T	-|-	1|2	0|0	HEATR5A|HEATR5A	30834969|30834969	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.678000|0.678000	0.39670|0.39670	7.198000|7.198000	0.77823|0.77823	2.736000|2.736000	0.93811|0.93811	0.591000|0.591000	0.81541|0.81541	CAG|ACA		0.348	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		16	88	0	0	0	0.00499	0	16	88					A	31765218	G	A	31765218	3	1	172	1	0	0	0	0	1	0	0	0	7031	1377	48	2	636	2	HEATR5A	14	31765218	Missense_Mutation	SNP	G	TCGA-E8-A242-01A-21D-A16O-08		31765218	75584322	18	3636											
DISP2	85455	broad.mit.edu	37	chr15	40655938	40655938	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gacccccaccaacaacttccAccctccagcctgtgggtcca	6	20	0	0			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr15:40655938A>C	ENST00000267889.3	+	2	319	c.232A>C	c.(232-234)Acc>Ccc	p.T78P		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	78					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)		AACAACTTCCACCCTCCAGCC	0.657																																						ENST00000267889.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30						c.(232-234)Acc>Ccc		dispatched homolog 2 (Drosophila)							60	63	62					15																	40655938		2203	4300	6503	SO:0001583	missense	85455				smoothened signaling pathway	integral to membrane		g.chr15:40655938A>C	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.232A>C	15.37:g.40655938A>C	ENSP00000267889:p.Thr78Pro						p.T78P	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)	2	319	+		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)	78					Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	37	c.232A>C	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	A	18.63	3.664760	0.67700	.	.	ENSG00000140323	ENST00000267889	T	0.12672	2.66	5.17	5.17	0.71159	.	0.266534	0.36591	N	0.002502	T	0.19604	0.0471	L	0.28274	0.84	0.33050	D	0.532573	D	0.54964	0.969	P	0.58454	0.839	T	0.11641	-1.0579	10	0.39692	T	0.17	-16.5174	12.5008	0.55953	1.0:0.0:0.0:0.0	.	78	A7MBM2	DISP2_HUMAN	P	78	ENSP00000267889:T78P	ENSP00000267889:T78P	T	+	1	0	DISP2	38443230	0.013000	0.17824	0.970000	0.41538	0.972000	0.66771	1.565000	0.36386	2.171000	0.68590	0.460000	0.39030	ACC		0.657	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		8	53	0	0	0	0.001882	0	8	53					C	40655938	A	C	40655938	3	2	172	1	0	0	0	0	1	0	0	0	4540	159	6	5	238	5	DISP2	15	40655938	Missense_Mutation	SNP	A	TCGA-E8-A242-01A-21D-A16O-08		40655938	61875454	19	3637											
RAB40C	57799	broad.mit.edu	37	chr16	676071	676071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccttcacggagctatcccGcatcgtgctcatgcggcacg	11	15	2	0			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr16:676071G>A	ENST00000248139.3	+	5	718	c.515G>A	c.(514-516)cGc>cAc	p.R172H	RAB40C_ENST00000539661.1_Missense_Mutation_p.R172H|RAB40C_ENST00000538492.1_Missense_Mutation_p.R172H|RAB40C_ENST00000535977.1_Missense_Mutation_p.R172H	NM_021168.4	NP_066991.3	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	172					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				GAGCTATCCCGCATCGTGCTC	0.647																																					Melanoma(123;1631 1690 28262 44104 44957)	ENST00000535977.1																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6						c.(514-516)cGc>cAc		RAB40C, member RAS oncogene family							101	86	91					16																	676071		2201	4300	6501	SO:0001583	missense	57799				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr16:676071G>A	Z84779	CCDS10413.1	16p13.3	2008-07-28	2003-10-14		ENSG00000197562	ENSG00000197562		"RAB, member RAS oncogene"	18285	protein-coding gene	gene with protein product			"RAS-like, family 8, member C"	RASL8C		11697911, 18485483	Standard	NM_021168		Approved	RARL	uc021szv.1	Q96S21	OTTHUMG00000047854	ENST00000248139.3:c.515G>A	16.37:g.676071G>A	ENSP00000248139:p.Arg172His					RAB40C_ENST00000248139.3_Missense_Mutation_p.R172H|RAB40C_ENST00000539661.1_Missense_Mutation_p.R172H|RAB40C_ENST00000538492.1_Missense_Mutation_p.R172H	p.R172H	NM_001172663.1	NP_001166134.1	Q96S21	RB40C_HUMAN			6	737	+		Hepatocellular(780;0.0218)	172					A2IDE2|D3DU54|O60795|Q4TT41|Q5PXE8|Q6PIU5	Missense_Mutation	SNP	ENST00000248139.3	37	c.515G>A	CCDS10413.1	.	.	.	.	.	.	.	.	.	.	G	36	5.631646	0.96682	.	.	ENSG00000197562	ENST00000535977;ENST00000539661;ENST00000538492;ENST00000248139	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.85128	0.5626	L	0.46819	1.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.931	D	0.86593	0.1861	10	0.87932	D	0	.	17.7582	0.88456	0.0:0.0:1.0:0.0	.	172;153	Q96S21;Q5PXE8	RB40C_HUMAN;.	H	172	ENSP00000438492:R172H;ENSP00000445050:R172H;ENSP00000438382:R172H;ENSP00000248139:R172H	ENSP00000248139:R172H	R	+	2	0	RAB40C	616072	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	9.747000	0.98863	2.438000	0.82558	0.561000	0.74099	CGC		0.647	RAB40C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109079.4	NM_021168		4	106	0	0	0	0.000602	0	4	106					A	676071	G	A	676071	3	1	172	1	0	0	0	0	1	0	0	0	12942	1087	38	1	533	1	RAB40C	16	676071	Missense_Mutation	SNP	G	TCGA-E8-A242-01A-21D-A16O-08		676071	89678682	20	3638											
DNAH9	1770	broad.mit.edu	37	chr17	11726231	11726231	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacaactatacaactcccaaGtcctttctggagttcatcag	5	12	3	0			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr17:11726231G>T	ENST00000262442.4	+	48	9194	c.9126G>T	c.(9124-9126)aaG>aaT	p.K3042N	DNAH9_ENST00000454412.2_Missense_Mutation_p.K3042N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3042					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAACTCCCAAGTCCTTTCTGG	0.478																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(9124-9126)aaG>aaT		dynein, axonemal, heavy chain 9							123	110	115					17																	11726231		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11726231G>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.9126G>T	17.37:g.11726231G>T	ENSP00000262442:p.Lys3042Asn					DNAH9_ENST00000454412.2_Missense_Mutation_p.K3042N	p.K3042N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	48	9194	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3042					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.9126G>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.284494	0.59867	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.56103	0.48;0.48	4.05	-5.32	0.02722	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.85682	D	0.000000	T	0.82001	0.4942	H	0.99325	4.515	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.86884	0.2044	10	0.87932	D	0	.	19.3718	0.94490	0.2157:0.0:0.7843:0.0	.	3042	Q9NYC9	DYH9_HUMAN	N	3042;3042;1624	ENSP00000262442:K3042N;ENSP00000414874:K3042N	ENSP00000262442:K3042N	K	+	3	2	DNAH9	11666956	0.992000	0.36948	0.929000	0.37066	0.985000	0.73830	0.140000	0.16056	-1.245000	0.02513	-0.484000	0.04775	AAG		0.478	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		5	91	1	0	3.59834e-05	0.001168	5.12763e-05	5	91					T	11726231	G	T	11726231	3	4	172	1	0	0	0	0	1	0	0	0	4608	1020	36	4	9316	4	DNAH9	17	11726231	Missense_Mutation	SNP	G	TCGA-E8-A242-01A-21D-A16O-08		11726231	69468979	21	3639											
DDX5	1655	broad.mit.edu	37	chr17	62496218	62496218	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggattaccagtcctaaaactGgtctgtataccagcagacac	8	11	1	1			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr17:62496218G>A	ENST00000225792.5	-	13	2069	c.1668C>T	c.(1666-1668)acC>acT	p.T556T	DDX5_ENST00000580026.1_5'Flank|MIR3064_ENST00000581130.1_RNA|DDX5_ENST00000450599.2_Silent_p.T477T|MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000578804.1_Silent_p.T556T	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	556	Transactivation domain.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TCCTAAAACTGGTCTGTATAC	0.403			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)	ENST00000225792.5				Dom	yes		17	17q21	1655	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5			E	ETV4		prostate		0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19						c.(1666-1668)acC>acT		DEAD (Asp-Glu-Ala-Asp) box helicase 5							133	123	126					17																	62496218		2203	4300	6503	SO:0001819	synonymous_variant	1655				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr17:62496218G>A	AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"DEAD-boxes"	2746	protein-coding gene	gene with protein product		180630	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.1668C>T	17.37:g.62496218G>A						DDX5_ENST00000578804.1_Silent_p.T556T|DDX5_ENST00000450599.2_Silent_p.T477T	p.T556T	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		13	2069	-	Breast(5;2.15e-14)		556					B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Silent	SNP	ENST00000225792.5	37	c.1668C>T	CCDS11659.1																																																																																				0.403	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	NM_004396		4	94	0	0	0	0.000248	0	4	94					A	62496218	G	A	62496218	2	1	172	1	0	0	0	0	0	0	0	1	4367	1335	47	2		2	DDX5	17	62496218	Silent	SNP	G	TCGA-E8-A242-01A-21D-A16O-08	50769987	62496218	18698992	22	3640											
ALPK2	115701	broad.mit.edu	37	chr18	56149135	56149135	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaactttgcttttcccaaTgctcggctgcttctgtttct	7	11	2	1			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr18:56149135T>C	ENST00000361673.3	-	13	6646	c.6433A>G	c.(6433-6435)Att>Gtt	p.I2145V		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	2145						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTTTTCCCAATGCTCGGCTGC	0.433																																						ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(6433-6435)Att>Gtt		alpha-kinase 2							173	158	163					18																	56149135		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56149135T>C	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.6433A>G	18.37:g.56149135T>C	ENSP00000354991:p.Ile2145Val						p.I2145V	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			13	6646	-			2145					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.6433A>G	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	T	1.274	-0.612132	0.03690	.	.	ENSG00000198796	ENST00000361673	T	0.42131	0.98	5.92	-8.0	0.01126	.	3.036110	0.00853	N	0.001859	T	0.16385	0.0394	N	0.04880	-0.145	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.13124	-1.0521	10	0.12766	T	0.61	0.192	4.4479	0.11606	0.0751:0.3369:0.314:0.274	.	2145	Q86TB3	ALPK2_HUMAN	V	2145	ENSP00000354991:I2145V	ENSP00000354991:I2145V	I	-	1	0	ALPK2	54300115	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.389000	0.01058	-1.384000	0.02103	-0.466000	0.05196	ATT		0.433	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		5	95	0	0	0	0.000602	0	5	95					C	56149135	T	C	56149135	3	2	172	1	0	0	0	0	1	0	0	0	545	1464	51	3	83	3	ALPK2	18	56149135	Missense_Mutation	SNP	T	TCGA-E8-A242-01A-21D-A16O-08		56149135	21928113	23	3641											
EPS15L1	58513	broad.mit.edu	37	chr19	16496012	16496012	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttccgaagggatctaaggtTccaaagggatctgcaatcgg	12	9	2	0			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr19:16496012T>A	ENST00000248070.6	-	21	2314	c.2175A>T	c.(2173-2175)ggA>ggT	p.G725G	EPS15L1_ENST00000535753.2_Silent_p.G725G|EPS15L1_ENST00000594975.1_Silent_p.G727G|EPS15L1_ENST00000455140.2_Silent_p.G725G	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	725	15 X 3 AA repeats of D-P-F.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GATCTAAGGTTCCAAAGGGAT	0.542																																						ENST00000455140.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						c.(2173-2175)ggA>ggT		epidermal growth factor receptor pathway substrate 15-like 1							100	103	102					19																	16496012		2203	4300	6503	SO:0001819	synonymous_variant	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16496012T>A	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"EF-hand domain containing"	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.2175A>T	19.37:g.16496012T>A						EPS15L1_ENST00000248070.6_Silent_p.G725G|EPS15L1_ENST00000594975.1_Silent_p.G727G|EPS15L1_ENST00000535753.2_Silent_p.G725G	p.G725G	NM_001258374.1	NP_001245303.1	Q9UBC2	EP15R_HUMAN			21	2241	-			725			15 X 3 AA repeats of D-P-F.		A2RRF3|A5PL29|B4DKA3	Silent	SNP	ENST00000248070.6	37	c.2175A>T	CCDS32944.1																																																																																				0.542	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		5	129	0	0	0	0.000602	0	5	129					A	16496012	T	A	16496012	2	1	172	1	0	0	0	0	0	0	0	1	5193	1770	62	5		5	EPS15L1	19	16496012	Silent	SNP	T	TCGA-E8-A242-01A-21D-A16O-08		16496012	42632971	24	3642											
ZNF234	10780	broad.mit.edu	37	chr19	44662001	44662001	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcagtcaggcctcaagtcTccaacttcatcagagtgtcc	7	14	6	1			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr19:44662001T>C	ENST00000426739.2	+	6	2090	c.1832T>C	c.(1831-1833)cTc>cCc	p.L611P	ZNF234_ENST00000592437.1_Missense_Mutation_p.L611P	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	611					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GCCTCAAGTCTCCAACTTCAT	0.463																																						ENST00000426739.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23						c.(1831-1833)cTc>cCc		zinc finger protein 234							137	146	143					19																	44662001		2200	4296	6496	SO:0001583	missense	10780				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44662001T>C	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"Zinc fingers, C2H2-type", "-"	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.1832T>C	19.37:g.44662001T>C	ENSP00000400878:p.Leu611Pro					ZNF234_ENST00000592437.1_Missense_Mutation_p.L611P	p.L611P	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN			6	2090	+		Prostate(69;0.0435)	611					A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	37	c.1832T>C	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	T	15.71	2.914720	0.52546	.	.	ENSG00000167380	ENST00000426739	T	0.53857	0.6	4.33	4.33	0.51752	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.80534	0.4641	H	0.95950	3.745	0.23906	N	0.9965	D	0.89917	1.0	D	0.97110	1.0	T	0.74019	-0.3799	9	0.87932	D	0	.	12.8951	0.58095	0.0:0.0:0.0:1.0	.	611	Q14588	ZN234_HUMAN	P	611	ENSP00000400878:L611P	ENSP00000400878:L611P	L	+	2	0	ZNF226	49353841	0.774000	0.28592	0.028000	0.17463	0.946000	0.59487	4.484000	0.60271	1.934000	0.56057	0.477000	0.44152	CTC		0.463	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			3	124	0	0	0	0.004672	0	3	124					C	44662001	T	C	44662001	3	2	172	1	0	0	0	0	1	0	0	0	17784	1551	54	3	1846	3	ZNF234	19	44662001	Missense_Mutation	SNP	T	TCGA-E8-A242-01A-21D-A16O-08	28165989	44662001	14466982	25	3643											
KIAA0406	9675	broad.mit.edu	37	chr20	36625191	36625191	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agggggcccaggccctgtaaGacagccagctgcaacttgaa	13	12	0	2			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr20:36625191G>C	ENST00000373448.2	-	7	3196	c.2958C>G	c.(2956-2958)gtC>gtG	p.V986V	TTI1_ENST00000449821.1_Silent_p.V986V|TTI1_ENST00000373447.3_Silent_p.V986V	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	986					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						GGCCCTGTAAGACAGCCAGCT	0.602																																						ENST00000373448.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						c.(2956-2958)gtC>gtG		TELO2 interacting protein 1							102	105	104					20																	36625191		2203	4300	6503	SO:0001819	synonymous_variant	9675						binding	g.chr20:36625191G>C	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"	614425	"KIAA0406", "Tel2 interacting protein 1 homolog (S. pombe)"	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.2958C>G	20.37:g.36625191G>C						TTI1_ENST00000449821.1_Silent_p.V986V|TTI1_ENST00000373447.3_Silent_p.V986V	p.V986V	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN			7	3196	-			986					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Silent	SNP	ENST00000373448.2	37	c.2958C>G	CCDS13300.1																																																																																				0.602	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		38	131	0	0	0	0.00623	0	38	131					C	36625191	G	C	36625191	2	2	172	1	0	0	0	0	0	0	0	1	8173	929	33	4		4	KIAA0406	20	36625191	Silent	SNP	G	TCGA-E8-A242-01A-21D-A16O-08		36625191	26400329	26	3644											
SPANXN5	494197	broad.mit.edu	37	chrX	52825587	52825587	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttagtcttcctgtagcacaAcactaatactgttgaatatt	5	9	1	1			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chrX:52825587A>G	ENST00000375511.3	-	2	912	c.160T>C	c.(160-162)Ttg>Ctg	p.L54L		NM_001009616.3	NP_001009616.1	Q5MJ07	SPXN5_HUMAN	SPANX family, member N5	54										large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					CTGTAGCACAACACTAATACT	0.418																																						ENST00000375511.3																			0				large_intestine(1)|lung(5)|skin(2)	8						c.(160-162)Ttg>Ctg		SPANX family, member N5							244	200	215					X																	52825587		2203	4300	6503	SO:0001819	synonymous_variant	494197							g.chrX:52825587A>G		CCDS35295.1	Xp11.22	2009-03-25				ENSG00000204363			33178	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 10"	300668				14973187, 17012309	Standard	NM_001009616		Approved	SPANX-N5, CT11.10	uc004drc.1	Q5MJ07		ENST00000375511.3:c.160T>C	X.37:g.52825587A>G							p.L54L	NM_001009616.2	NP_001009616.1	Q5MJ07	SPXN5_HUMAN			2	912	-	Ovarian(276;0.236)		54						Silent	SNP	ENST00000375511.3	37	c.160T>C	CCDS35295.1																																																																																				0.418	SPANXN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056690.2	NM_001009616		4	150	0	0	0	0.000248	0	4	150					G	52825587	A	G	52825587	2	3	172	1	0	0	0	0	0	0	0	1	14993	40	2	3		3	SPANXN5	23	52825587	Silent	SNP	A	TCGA-E8-A242-01A-21D-A16O-08		52825587	102444973	27	3645											
HMGB3	3149	broad.mit.edu	37	chrX	150155679	150155679	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggcatctctattggagacgtGgcaaaaaagctgggtgagat	14	6	1	2			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chrX:150155679G>C	ENST00000325307.7	+	4	465	c.369G>C	c.(367-369)gtG>gtC	p.V123V	HMGB3_ENST00000448905.2_Silent_p.V123V	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	123					DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					TTGGAGACGTGGCAAAAAAGC	0.428																																						ENST00000325307.7																			0				endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(367-369)gtG>gtC		high mobility group box 3							42	42	42					X																	150155679		2202	4297	6499	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150155679G>C	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.369G>C	X.37:g.150155679G>C						HMGB3_ENST00000448905.2_Silent_p.V123V	p.V123V	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			4	465	+	Acute lymphoblastic leukemia(192;6.56e-05)		123					O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.369G>C	CCDS35428.1																																																																																				0.428	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		4	54	0	0	0	0.000248	0	4	54					C	150155679	G	C	150155679	2	2	172	1	0	0	0	0	0	0	0	1	7227	1335	47	4		4	HMGB3	23	150155679	Silent	SNP	G	TCGA-E8-A242-01A-21D-A16O-08	97330092	150155679	5114881	28	3646											
FBXO42	54455	broad.mit.edu	37	chr1	16577866	16577866	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atctggtagtgatcctcgtcGgggggccaaagaaagtccta	13	9	1	2			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr1:16577866G>C	ENST00000375592.3	-	10	1669	c.1453C>G	c.(1453-1455)Cga>Gga	p.R485G		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	485										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		GATCCTCGTCGGGGGGCCAAA	0.483																																						ENST00000375592.3																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(1453-1455)Cga>Gga		F-box protein 42							54	58	56					1																	16577866		2203	4300	6503	SO:0001583	missense	54455							g.chr1:16577866G>C	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"F-boxes /  "other""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.1453C>G	1.37:g.16577866G>C	ENSP00000364742:p.Arg485Gly						p.R485G	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)	10	1669	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	485					B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	ENST00000375592.3	37	c.1453C>G	CCDS30613.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.503513	0.26949	.	.	ENSG00000037637	ENST00000375592;ENST00000456164;ENST00000444116	T;T;T	0.56611	3.6;0.45;0.45	5.51	5.51	0.81932	.	0.226096	0.38326	N	0.001739	T	0.32941	0.0846	N	0.08118	0	0.52099	D	0.999945	B	0.09022	0.002	B	0.04013	0.001	T	0.12243	-1.0555	10	0.22109	T	0.4	-9.7159	15.2424	0.73480	0.0:0.0:0.8593:0.1407	.	485	Q6P3S6	FBX42_HUMAN	G	485;203;203	ENSP00000364742:R485G;ENSP00000415663:R203G;ENSP00000412416:R203G	ENSP00000364742:R485G	R	-	1	2	FBXO42	16450453	0.981000	0.34729	0.516000	0.27786	0.877000	0.50540	0.614000	0.24314	2.763000	0.94921	0.650000	0.86243	CGA		0.483	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1			4	71	0	0	0	1.23904e-05	0	4	71					C	16577866	G	C	16577866	3	2	173	1	0	0	0	0	1	0	0	0	5751	1124	39	4	704	4	FBXO42	1	16577866	Missense_Mutation	SNP	G	TCGA-E8-A2EA-01A-11D-A17V-08		16577866	232672755	1	3647											
RTCD1	8634	broad.mit.edu	37	chr1	100752669	100752669	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaatagctgattgttttcatGgcattagccaatggagtttc	9	6	1	1			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr1:100752669G>C	ENST00000370128.4	+	10	1078	c.909G>C	c.(907-909)atG>atC	p.M303I	RTCA_ENST00000260563.4_Missense_Mutation_p.M316I	NM_003729.3	NP_003720.1	O00442	RTCA_HUMAN	RNA 3'-terminal phosphate cyclase	303					RNA processing (GO:0006396)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA-3'-phosphate cyclase activity (GO:0003963)										TTGTTTTCATGGCATTAGCCA	0.338																																						ENST00000370128.4																			0											c.(907-909)atG>atC		RNA 3'-terminal phosphate cyclase							82	80	81					1																	100752669		2203	4300	6503	SO:0001583	missense	8634				RNA processing	mitochondrion|nucleoplasm	ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity	g.chr1:100752669G>C	Y11651	CCDS768.1, CCDS44178.1	1p13.3	2012-03-30	2012-03-30	2012-03-30	ENSG00000137996	ENSG00000137996	6.5.1.4		17981	protein-coding gene	gene with protein product		611286	"RTC domain containing 1", "RNA terminal phosphate cyclase domain 1"	RTCD1		9184239	Standard	NM_003729		Approved	RPC, RTC1	uc001dtd.3	O00442	OTTHUMG00000010920	ENST00000370128.4:c.909G>C	1.37:g.100752669G>C	ENSP00000359146:p.Met303Ile					RTCA_ENST00000260563.4_Missense_Mutation_p.M316I	p.M303I	NM_003729.3	NP_003720.1	O00442	RTC1_HUMAN			10	1078	+			303					Q5VVL5|Q5VVL6|Q96E99	Missense_Mutation	SNP	ENST00000370128.4	37	c.909G>C	CCDS768.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592894	0.86953	.	.	ENSG00000137996	ENST00000370128;ENST00000260563	.	.	.	5.77	5.77	0.91146	-terminal phosphate cyclase domain (2);RNA 3&apos (4);-terminal phosphate cyclase/enolpyruvate transferase, alpha/beta (1);-terminal phosphate cyclase (1);	0.000000	0.85682	D	0.000000	T	0.76716	0.4026	M	0.77313	2.365	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.77557	0.966;0.99	T	0.76222	-0.3038	9	0.52906	T	0.07	-27.851	18.1351	0.89616	0.0:0.0:1.0:0.0	.	316;303	O00442-2;O00442	.;RTC1_HUMAN	I	303;316	.	ENSP00000260563:M316I	M	+	3	0	RTCD1	100525257	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.319000	0.79040	2.885000	0.99019	0.655000	0.94253	ATG		0.338	RTCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030098.2			3	80	0	0	0	6.4e-05	0	3	80					C	100752669	G	C	100752669	3	2	173	1	0	0	0	0	1	0	0	0	13718	1348	47	4	990	4	RTCD1	1	100752669	Missense_Mutation	SNP	G	TCGA-E8-A2EA-01A-11D-A17V-08	84174803	100752669	148497952	2	3648											
DENND2D	79961	broad.mit.edu	37	chr1	111741363	111741363	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaccccgaagcaggttctccCgctataaggcaaaggaaaag	11	11	1	0			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr1:111741363C>G	ENST00000357640.4	-	3	474	c.245G>C	c.(244-246)cGg>cCg	p.R82P	CHI3L2_ENST00000445067.2_5'Flank|DENND2D_ENST00000369752.5_Splice_Site_p.R79P|DENND2D_ENST00000473682.1_5'UTR	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	82	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		CAGGTTCTCCCGCTATAAGGC	0.552																																						ENST00000357640.4																			0				breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25						c.e3-1		DENN/MADD domain containing 2D							50	49	50					1																	111741363		2203	4300	6503	SO:0001630	splice_region_variant	79961							g.chr1:111741363C>G		CCDS831.1, CCDS60219.1	1p13.3	2014-02-12	2005-08-17		ENSG00000162777	ENSG00000162777		"DENN/MADD domain containing"	26192	protein-coding gene	gene with protein product		615111				12477932	Standard	NM_024901		Approved	FLJ22457, RP5-1180E21.2	uc001eal.2	Q9H6A0	OTTHUMG00000012356	ENST00000357640.4:c.244-1G>C	1.37:g.111741363C>G						DENND2D_ENST00000473682.1_5'UTR|DENND2D_ENST00000369752.5_Splice_Site_p.R79_splice	p.R82_splice	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)	3	474	-		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)	82			UDENN.		Q5T5V6|Q9BSU0	Splice_Site	SNP	ENST00000357640.4	37	c.243_splice	CCDS831.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989841	0.35131	.	.	ENSG00000162777	ENST00000357640;ENST00000369752	T;T	0.46819	0.86;0.86	5.93	5.93	0.95920	uDENN (3);	0.125962	0.51477	D	0.000086	T	0.51109	0.1655	L	0.46157	1.445	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.69824	0.943;0.966	T	0.47045	-0.9147	10	0.41790	T	0.15	-17.2731	12.7496	0.57300	0.1638:0.8362:0.0:0.0	.	79;82	Q9H6A0-2;Q9H6A0	.;DEN2D_HUMAN	P	82;79	ENSP00000350266:R82P;ENSP00000358767:R79P	ENSP00000350266:R82P	R	-	2	0	DENND2D	111542886	0.967000	0.33354	0.993000	0.49108	0.638000	0.38207	3.153000	0.50685	2.826000	0.97356	0.655000	0.94253	CGG		0.552	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000034456.1	NM_024901	Missense_Mutation	3	38	0	0	0	6.4e-05	0	3	38					G	111741363	C	G	111741363	5	3	173	1	0	0	0	0	0	0	1	0	4431	666	23	4	1210	4	DENND2D	1	111741363	Splice_Site	SNP	C	TCGA-E8-A2EA-01A-11D-A17V-08	10988694	111741363	137509258	3	3649											
C1orf110	339512	broad.mit.edu	37	chr1	162824952	162824952	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaacagagatgcccttgctgGggtctacgtccttagatgga	13	9	1	2	rs150783672		TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr1:162824952G>C	ENST00000367910.1	-	4	632	c.512C>G	c.(511-513)cCc>cGc	p.P171R	C1orf110_ENST00000367912.2_Missense_Mutation_p.P170R|C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367911.2_Missense_Mutation_p.P166R	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	171										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						GCCCTTGCTGGGGTCTACGTC	0.468																																						ENST00000367912.1																			0				endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						c.(508-510)cCc>cGc		chromosome 1 open reading frame 110							275	262	266					1																	162824952		1935	4141	6076	SO:0001583	missense	339512							g.chr1:162824952G>C	BC040018	CCDS44269.1	1q23.3	2012-06-26			ENSG00000185860	ENSG00000185860			28736	protein-coding gene	gene with protein product						12477932	Standard	NM_178550		Approved	MGC48998	uc001gck.2	Q86UF4	OTTHUMG00000034421	ENST00000367910.1:c.512C>G	1.37:g.162824952G>C	ENSP00000356886:p.Pro171Arg					C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367911.2_Missense_Mutation_p.P166R|C1orf110_ENST00000367910.1_Missense_Mutation_p.P171R	p.P170R			Q86UF4	CA110_HUMAN			4	683	-			171					Q5JSG1|Q6ZW57	Missense_Mutation	SNP	ENST00000367910.1	37	c.509C>G	CCDS44269.1	.	.	.	.	.	.	.	.	.	.	G	6.585	0.476208	0.12521	.	.	ENSG00000185860	ENST00000367912;ENST00000367911;ENST00000367910	.	.	.	4.22	1.26	0.21427	.	0.713158	0.12734	N	0.443640	T	0.12944	0.0314	N	0.14661	0.345	0.21740	N	0.999568	B;B	0.21753	0.06;0.06	B;B	0.26517	0.07;0.07	T	0.11179	-1.0598	8	0.56958	D	0.05	0.04	6.55	0.22427	0.3143:0.0:0.6857:0.0	.	170;171	Q86UF4-2;Q86UF4	.;CA110_HUMAN	R	170;166;171	.	ENSP00000356886:P171R	P	-	2	0	C1orf110	161091576	0.016000	0.18221	0.000000	0.03702	0.002000	0.02628	0.853000	0.27777	0.151000	0.19162	-0.136000	0.14681	CCC		0.468	C1orf110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083211.2	NM_178550		4	220	0	0	0	3.59834e-05	0	4	220					C	162824952	G	C	162824952	3	2	173	1	0	0	0	0	1	0	0	0	1983	1232	43	4	400	4	C1orf110	1	162824952	Missense_Mutation	SNP	G	TCGA-E8-A2EA-01A-11D-A17V-08	51083589	162824952	86425669	4	3650											
GALNT2	2590	broad.mit.edu	37	chr1	230203102	230203102	+	Frame_Shift_Del	DEL	G	G	-													atcgcctactacatgtactcGgggggcggctctgcgctggc							TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr1:230203102delG	ENST00000366672.4	+	1	147	c.75delG	c.(73-75)tcgfs	p.S25fs	GALNT2_ENST00000541865.1_5'UTR|GALNT2_ENST00000543760.1_Intron	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	25					cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				ACATGTACTCGGGGGGCGGCT	0.771																																						ENST00000366672.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32						c.(73-75)tcfs		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)				2,3416		0,2,1707	5	5	5			3.7	1.0	1		5	12,6732		3,6,3363	no	frameshift	GALNT2	NM_004481.3		3,8,5070	A1A1,A1R,RR		0.1779,0.0585,0.1378			230203102	14,10148	1890	3735	5625	SO:0001589	frameshift_variant	2590				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr1:230203102delG	BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4124	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 2"	602274	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.75delG	1.37:g.230203102delG	ENSP00000355632:p.Ser25fs					GALNT2_ENST00000541865.1_5'UTR|GALNT2_ENST00000543760.1_Intron	p.S25fs	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN			1	147	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	25					A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Frame_Shift_Del	DEL	ENST00000366672.4	37	c.75delG	CCDS1582.1																																																																																				0.771	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481		2	4						2	4	---	---	---	---	-	230203102	G	-	230203102	7	5	173	1	0	1	0	1	0	0	0	0	6213	1103	39	0	77	0	GALNT2	1	230203102	Frame_Shift_Del	DEL	G	TCGA-E8-A2EA-01A-11D-A17V-08	67378150	230203102	19047519	5	3651											
GPAT2	150763	broad.mit.edu	37	chr2	96691942	96691942	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctccatacctgcagggaaaAgggctgagctaggtgcaccc	13	12	0	1			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr2:96691942A>G	ENST00000434632.1	-	12	1603	c.1144T>C	c.(1144-1146)Ttt>Ctt	p.F382L	GPAT2_ENST00000359548.4_Missense_Mutation_p.F382L|GPAT2_ENST00000453542.1_Missense_Mutation_p.F311L|GPAT2_ENST00000377137.3_Missense_Mutation_p.F382L			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	382					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						TGCAGGGAAAAGGGCTGAGCT	0.647																																						ENST00000434632.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						c.(1144-1146)Ttt>Ctt		glycerol-3-phosphate acyltransferase 2, mitochondrial							31	33	32					2																	96691942		1934	4129	6063	SO:0001583	missense	150763				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr2:96691942A>G	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"cancer/testis antigen 123"					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.1144T>C	2.37:g.96691942A>G	ENSP00000389395:p.Phe382Leu					GPAT2_ENST00000453542.1_Missense_Mutation_p.F311L|GPAT2_ENST00000359548.4_Missense_Mutation_p.F382L|GPAT2_ENST00000377137.3_Missense_Mutation_p.F382L	p.F382L			Q6NUI2	GPAT2_HUMAN			12	1603	-			382					Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Missense_Mutation	SNP	ENST00000434632.1	37	c.1144T>C	CCDS42714.1	.	.	.	.	.	.	.	.	.	.	a	19.71	3.878984	0.72294	.	.	ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542;ENST00000377137	T;T;T;T	0.62498	0.02;0.02;0.02;0.02	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.74891	0.3776	M	0.65498	2.005	0.42849	D	0.994078	D;D;D;D;D	0.89917	0.982;0.998;1.0;0.998;0.982	D;D;D;D;D	0.91635	0.961;0.994;0.999;0.994;0.961	T	0.76666	-0.2875	10	0.54805	T	0.06	-9.8225	10.5837	0.45269	1.0:0.0:0.0:0.0	.	311;382;382;382;311	E9PE95;Q6NUI2-3;Q6NUI2-4;Q6NUI2;B4DNZ9	.;.;.;GPAT2_HUMAN;.	L	382;382;311;382	ENSP00000352547:F382L;ENSP00000389395:F382L;ENSP00000393770:F311L;ENSP00000366341:F382L	ENSP00000352547:F382L	F	-	1	0	GPAT2	96055669	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	5.558000	0.67319	1.763000	0.52060	0.455000	0.32223	TTT		0.647	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328		3	65	0	0	0	6.4e-05	0	3	65					G	96691942	A	G	96691942	3	3	173	1	0	0	0	0	1	0	0	0	6589	72	3	3	1291	3	GPAT2	2	96691942	Missense_Mutation	SNP	A	TCGA-E8-A2EA-01A-11D-A17V-08		96691942	146507431	6	3652											
SLC25A38	54977	broad.mit.edu	37	chr3	39433012	39433012	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtatttcttgcgaggccaTcccccaaccgccctggagtc	9	16	1	0			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr3:39433012T>C	ENST00000273158.4	+	4	734	c.357T>C	c.(355-357)caT>caC	p.H119H		NM_017875.2	NP_060345.2			solute carrier family 25, member 38											breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGCGAGGCCATCCCCCAACCG	0.542																																						ENST00000273158.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						c.(355-357)caT>caC		solute carrier family 25, member 38							180	196	191					3																	39433012		2203	4300	6503	SO:0001819	synonymous_variant	54977				erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane		g.chr3:39433012T>C	BC013194	CCDS2685.1	3p22.1	2013-05-22			ENSG00000144659	ENSG00000144659		"Solute carriers"	26054	protein-coding gene	gene with protein product		610819				16949250	Standard	NM_017875		Approved	FLJ20551	uc003cjo.2	Q96DW6	OTTHUMG00000131289	ENST00000273158.4:c.357T>C	3.37:g.39433012T>C							p.H119H	NM_017875.2	NP_060345.2	Q96DW6	S2538_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	4	734	+			119						Silent	SNP	ENST00000273158.4	37	c.357T>C	CCDS2685.1																																																																																				0.542	SLC25A38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254057.3	NM_017875		4	280	0	0	0	3.59834e-05	0	4	280					C	39433012	T	C	39433012	2	2	173	1	0	0	0	0	0	0	0	1	14502	1432	50	3		3	SLC25A38	3	39433012	Silent	SNP	T	TCGA-E8-A2EA-01A-11D-A17V-08		39433012	158589418	7	3653											
TBC1D1	23216	broad.mit.edu	37	chr4	38016200	38016200	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ggaggagctgcactgcccgtCcgagttcgacgacacgtttt	13	12	0	0			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr4:38016200C>G	ENST00000261439.4	+	3	843	c.488C>G	c.(487-489)tCc>tGc	p.S163C	TBC1D1_ENST00000508802.1_Missense_Mutation_p.S163C	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	163					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CACTGCCCGTCCGAGTTCGAC	0.622																																						ENST00000261439.4																			0				NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(487-489)tCc>tGc		TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1							99	97	98					4																	38016200		2203	4300	6503	SO:0001583	missense	23216					nucleus	Rab GTPase activator activity	g.chr4:38016200C>G	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.488C>G	4.37:g.38016200C>G	ENSP00000261439:p.Ser163Cys					TBC1D1_ENST00000508802.1_Missense_Mutation_p.S163C	p.S163C	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN			3	843	+			163					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	ENST00000261439.4	37	c.488C>G	CCDS33972.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.649349	0.29336	.	.	ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000446803	T;T;T	0.14516	2.5;2.5;2.5	5.46	5.46	0.80206	Phosphotyrosine interaction domain (1);	0.000000	0.47455	D	0.000238	T	0.09598	0.0236	N	0.12182	0.205	0.30414	N	0.778802	B;B;B	0.28439	0.212;0.097;0.212	B;B;B	0.28232	0.087;0.017;0.087	T	0.07908	-1.0748	10	0.49607	T	0.09	-13.9688	14.8578	0.70355	0.0:0.8566:0.1434:0.0	.	163;163;163	B9A6J6;E9PGH8;Q86TI0	.;.;TBCD1_HUMAN	C	163;163;34	ENSP00000423651:S163C;ENSP00000261439:S163C;ENSP00000396877:S34C	ENSP00000261439:S163C	S	+	2	0	TBC1D1	37692595	0.977000	0.34250	0.122000	0.21767	0.013000	0.08279	4.001000	0.57046	2.565000	0.86533	0.561000	0.74099	TCC		0.622	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		28	120	0	0	0	2.90539e-05	0	28	120					G	38016200	C	G	38016200	3	3	173	1	0	0	0	0	1	0	0	0	15594	855	30	4	494	4	TBC1D1	4	38016200	Missense_Mutation	SNP	C	TCGA-E8-A2EA-01A-11D-A17V-08		38016200	153138076	8	3654											
PDS5A	23244	broad.mit.edu	37	chr4	39910084	39910084	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actaaggccaggtccctcttGgcagctgttattatagtaac	9	10	1	0			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr4:39910084G>T	ENST00000303538.8	-	11	1703	c.1164C>A	c.(1162-1164)gcC>gcA	p.A388A	PDS5A_ENST00000503396.1_Silent_p.A388A	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						GGTCCCTCTTGGCAGCTGTTA	0.358																																						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.(1162-1164)gcC>gcA		PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)							167	164	165					4																	39910084		1847	4090	5937	SO:0001819	synonymous_variant	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39910084G>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.1164C>A	4.37:g.39910084G>T						PDS5A_ENST00000503396.1_Silent_p.A388A	p.A388A	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN			11	1703	-			388						Silent	SNP	ENST00000303538.8	37	c.1164C>A	CCDS47045.1																																																																																				0.358	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		96	208	1	0	3.61922e-38	0.000147903	4.59152e-36	96	208					T	39910084	G	T	39910084	2	4	173	1	0	0	0	0	0	0	0	1	11691	1335	47	4		4	PDS5A	4	39910084	Silent	SNP	G	TCGA-E8-A2EA-01A-11D-A17V-08	1893884	39910084	151244192	9	3655											
SDHA	6389	broad.mit.edu	37	chr5	230998	230998	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctattgtttccagaggctacGggcgcacctacttcagctgc	10	13	1	1	rs1126413		TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr5:230998G>C	ENST00000264932.6	+	7	893	c.778G>C	c.(778-780)Ggg>Cgg	p.G260R	SDHA_ENST00000510361.1_Missense_Mutation_p.G212R|SDHA_ENST00000504309.1_Missense_Mutation_p.G260R	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	260					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CAGAGGCTACGGGCGCACCTA	0.602									Familial Paragangliomas																													ENST00000264932.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40						c.(778-780)Ggg>Cgg		succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	Succinic acid(DB00139)						66	62	63					5																	230998		2203	4300	6503	SO:0001583	missense	6389	Familial Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:230998G>C	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"Mitochondrial respiratory chain complex / Complex II"	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.778G>C	5.37:g.230998G>C	ENSP00000264932:p.Gly260Arg					SDHA_ENST00000504309.1_Missense_Mutation_p.G260R|SDHA_ENST00000510361.1_Missense_Mutation_p.G212R	p.G260R	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		7	893	+			260					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	c.778G>C	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	-	18.60	3.659824	0.67586	.	.	ENSG00000073578	ENST00000264932;ENST00000504309;ENST00000510361	T;T;T	0.73258	-0.73;-0.73;-0.73	4.96	4.96	0.65561	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.143814	0.46758	U	0.000269	D	0.92296	0.7556	H	0.99955	5.045	0.80722	D	1	D;D;D;D;D	0.89917	0.986;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.978;1.0;1.0;1.0;1.0	D	0.95891	0.8907	10	0.87932	D	0	.	16.0576	0.80816	0.0:0.0:1.0:0.0	.	212;260;260;260;266	E9PBJ5;B4DYN5;D6RFM5;P31040;Q59GW8	.;.;.;DHSA_HUMAN;.	R	260;260;212	ENSP00000264932:G260R;ENSP00000426514:G260R;ENSP00000427703:G212R	ENSP00000264932:G260R	G	+	1	0	SDHA	283998	1.000000	0.71417	0.952000	0.39060	0.363000	0.29612	9.035000	0.93752	2.459000	0.83118	0.650000	0.86243	GGG		0.602	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		3	61	0	0	0	6.4e-05	0	3	61					C	230998	G	C	230998	3	2	173	1	0	0	0	0	1	0	0	0	13963	1116	39	4	804	4	SDHA	5	230998	Missense_Mutation	SNP	G	TCGA-E8-A2EA-01A-11D-A17V-08		230998	180684262	10	3656											
MUC17	140453	broad.mit.edu	37	chr7	100677148	100677148	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atacctgtcagcatcacaccGgtgaccagtcctgaggctag	10	13	2	2	rs200836006		TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr7:100677148G>C	ENST00000306151.4	+	3	2515	c.2451G>C	c.(2449-2451)ccG>ccC	p.P817P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	817	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCATCACACCGGTGACCAGTC	0.488																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(2449-2451)ccG>ccC		mucin 17, cell surface associated							282	287	285					7																	100677148		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677148G>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2451G>C	7.37:g.100677148G>C							p.P817P	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	2515	+	Lung NSC(181;0.136)|all_lung(186;0.182)		817			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.2451G>C	CCDS34711.1																																																																																				0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	509	0	0	0	8.12818e-05	0	6	509					C	100677148	G	C	100677148	2	2	173	1	0	0	0	0	0	0	0	1	9974	1103	39	4		4	MUC17	7	100677148	Silent	SNP	G	TCGA-E8-A2EA-01A-11D-A17V-08		100677148	58461515	11	3657											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		13	30	0	0	0	0.00010058	0	13	30					T	140453136	A	T	140453136	3	4	173	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E8-A2EA-01A-11D-A17V-08	39775988	140453136	18685527	12	3658											
KCNU1	157855	broad.mit.edu	37	chr8	36698048	36698048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacaaaattctgacccaacGtctctctgatgactttgctg	6	11	3	3	rs373537074		TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr8:36698048G>A	ENST00000399881.3	+	15	1623	c.1586G>A	c.(1585-1587)cGt>cAt	p.R529H		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	529					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CTGACCCAACGTCTCTCTGAT	0.403																																						ENST00000399881.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(1585-1587)cGt>cAt		potassium channel, subfamily U, member 1		G	HIS/ARG	0,3800		0,0,1900	105	97	99		1586	2.8	1.0	8		99	1,8223		0,1,4111	no	missense	KCNU1	NM_001031836.2	29	0,1,6011	AA,AG,GG		0.0122,0.0,0.0083	probably-damaging	529/1150	36698048	1,12023	1900	4112	6012	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36698048G>A	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.1586G>A	8.37:g.36698048G>A	ENSP00000382770:p.Arg529His						p.R529H	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	15	1623	+			529						Missense_Mutation	SNP	ENST00000399881.3	37	c.1586G>A	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	G	3.946	-0.013324	0.07727	0.0	1.22E-4	ENSG00000215262	ENST00000399881	T	0.44083	0.93	5.84	2.82	0.32997	Potassium channel, calcium-activated, BK, alpha subunit (1);	0.000000	0.38272	U	0.001757	T	0.29491	0.0735	L	0.48362	1.52	0.09310	N	0.999999	B	0.34255	0.445	B	0.28465	0.09	T	0.16070	-1.0415	10	0.44086	T	0.13	-3.7911	6.5249	0.22295	0.1677:0.0:0.6768:0.1555	.	529	A8MYU2	KCNU1_HUMAN	H	529	ENSP00000382770:R529H	ENSP00000382770:R529H	R	+	2	0	KCNU1	36817206	0.004000	0.15560	0.980000	0.43619	0.022000	0.10575	0.337000	0.19841	0.839000	0.34971	-0.727000	0.03589	CGT		0.403	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		8	15	0	0	0	5.18039e-06	0	8	15					A	36698048	G	A	36698048	3	1	173	1	0	0	0	0	1	0	0	0	8093	1145	40	1	1644	1	KCNU1	8	36698048	Missense_Mutation	SNP	G	TCGA-E8-A2EA-01A-11D-A17V-08		36698048	109665974	13	3659											
FAM83A	84985	broad.mit.edu	37	chr8	124219784	124219784	+	Frame_Shift_Del	DEL	G	G	-													ccccaggcccacctctccccGcggccccacgacggcccgcc							TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr8:124219784delG	ENST00000518448.1	+	5	3175	c.1161delG	c.(1159-1161)ccgfs	p.P387fs	FAM83A_ENST00000536633.1_Intron|FAM83A_ENST00000522648.1_Intron|FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000318462.6_Frame_Shift_Del_p.P387fs|FAM83A_ENST00000276699.6_Intron			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	387	Pro-rich.									breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			ACCTCTCCCCGCGGCCCCACG	0.766																																						ENST00000518448.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17						c.(1159-1161)ccfs		family with sequence similarity 83, member A							3	4	4					8																	124219784		1532	3317	4849	SO:0001589	frameshift_variant	84985							g.chr8:124219784delG	BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.1161delG	8.37:g.124219784delG	ENSP00000428876:p.Pro387fs					FAM83A_ENST00000318462.6_Frame_Shift_Del_p.P387fs|FAM83A_ENST00000276699.6_Intron|FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000536633.1_Intron|FAM83A_ENST00000522648.1_Intron	p.P387fs			Q86UY5	FA83A_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		5	3175	+	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		387			Pro-rich.		Q71HL2|Q8N7I1|Q96I47	Frame_Shift_Del	DEL	ENST00000518448.1	37	c.1161delG	CCDS6340.1																																																																																				0.766	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381737.1	NM_032899		2	4						2	4	---	---	---	---	-	124219784	G	-	124219784	7	5	173	1	0	1	0	1	0	0	0	0	5633	1074	38	0	1175	0	FAM83A	8	124219784	Frame_Shift_Del	DEL	G	TCGA-E8-A2EA-01A-11D-A17V-08	87521736	124219784	22144238	14	3660											
PFKP	5214	broad.mit.edu	37	chr10	3155654	3155654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtgcgcgtgggcattgccGacggccacaggatgctcgcc	15	14	0	0			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr10:3155654G>A	ENST00000381125.4	+	13	1391	c.1315G>A	c.(1315-1317)Gac>Aac	p.D439N	PFKP_ENST00000381075.2_Missense_Mutation_p.D431N	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	439	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GGGCATTGCCGACGGCCACAG	0.617																																						ENST00000381075.2																			0				breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1291-1293)Gac>Aac		phosphofructokinase, platelet							47	42	44					10																	3155654		2203	4300	6503	SO:0001583	missense	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3155654G>A	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"Phosphofructokinase, platelet type"	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.1315G>A	10.37:g.3155654G>A	ENSP00000370517:p.Asp439Asn					PFKP_ENST00000381125.4_Missense_Mutation_p.D439N	p.D431N	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	15	1515	+			439					B3KS15|Q5VSR7|Q5VSR8	Missense_Mutation	SNP	ENST00000381125.4	37	c.1291G>A	CCDS7059.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.764|9.764	1.170990|1.170990	0.21621|0.21621	.|.	.|.	ENSG00000067057|ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075;ENST00000415005|ENST00000413079	T;T;T|.	0.79247|.	-1.25;-1.25;-1.25|.	5.16|5.16	2.3|2.3	0.28687|0.28687	Phosphofructokinase domain (2);|.	0.313724|.	0.37761|.	N|.	0.001946|.	T|T	0.12944|0.12944	0.0314|0.0314	N|N	0.00313|0.00313	-1.665|-1.665	0.80722|0.80722	D|D	1|1	B;B;B|.	0.34200|.	0.014;0.014;0.441|.	B;B;B|.	0.33454|.	0.015;0.015;0.164|.	T|T	0.09997|0.09997	-1.0649|-1.0649	10|5	0.51188|.	T|.	0.08|.	.|.	10.6324|10.6324	0.45545|0.45545	0.2138:0.0:0.7862:0.0|0.2138:0.0:0.7862:0.0	.|.	431;431;439|.	B3KS15;Q5VSR7;Q01813|.	.;.;K6PP_HUMAN|.	N|Q	439;428;431;223|2	ENSP00000370517:D439N;ENSP00000370465:D431N;ENSP00000408858:D223N|.	ENSP00000370465:D431N|.	D|R	+|+	1|2	0|0	PFKP|PFKP	3145654|3145654	0.998000|0.998000	0.40836|0.40836	0.003000|0.003000	0.11579|0.11579	0.372000|0.372000	0.29890|0.29890	2.524000|2.524000	0.45589|0.45589	0.284000|0.284000	0.22305|0.22305	-0.150000|-0.150000	0.13652|0.13652	GAC|CGA		0.617	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		10	21	0	0	0	3.86212e-05	0	10	21					A	3155654	G	A	3155654	3	1	173	1	0	0	0	0	1	0	0	0	11766	1058	37	1	1365	1	PFKP	10	3155654	Missense_Mutation	SNP	G	TCGA-E8-A2EA-01A-11D-A17V-08		3155654	132379093	15	3661											
REEP3	221035	broad.mit.edu	37	chr10	65379435	65379435	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gttatggaattccactgaaaGacggagatgagaaaacagat	11	5	0	5			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr10:65379435G>C	ENST00000373758.4	+	7	769	c.586G>C	c.(586-588)Gac>Cac	p.D196H	REEP3_ENST00000298249.4_Missense_Mutation_p.D181H	NM_001001330.2	NP_001001330.1	Q6NUK4	REEP3_HUMAN	receptor accessory protein 3	196					mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|nuclear envelope organization (GO:0006998)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)				endometrium(1)|large_intestine(2)|lung(3)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					TCCACTGAAAGACGGAGATGA	0.428																																						ENST00000373758.4																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(586-588)Gac>Cac		receptor accessory protein 3							53	53	53					10																	65379435		1899	4128	6027	SO:0001583	missense	221035					integral to membrane		g.chr10:65379435G>C	BC057832	CCDS44411.1	10q21.3	2011-01-05	2006-02-07	2006-02-07	ENSG00000165476	ENSG00000165476		"Receptor accessory proteins"	23711	protein-coding gene	gene with protein product		609348	"chromosome 10 open reading frame 74"	C10orf74		16271481, 15550249	Standard	NM_001001330		Approved		uc001jmt.3	Q6NUK4	OTTHUMG00000018318	ENST00000373758.4:c.586G>C	10.37:g.65379435G>C	ENSP00000362863:p.Asp196His					REEP3_ENST00000298249.4_Missense_Mutation_p.D181H	p.D196H	NM_001001330.2	NP_001001330.1	Q6NUK4	REEP3_HUMAN			7	769	+	Prostate(12;0.0119)|all_hematologic(501;0.191)		196					Q5JQR5|Q5QGT2|Q6PEW8|Q6PJY4	Missense_Mutation	SNP	ENST00000373758.4	37	c.586G>C	CCDS44411.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047544	0.36085	.	.	ENSG00000165476	ENST00000373758;ENST00000298249;ENST00000438249	D;D	0.84070	-1.8;-1.8	5.2	5.2	0.72013	.	0.232667	0.42420	D	0.000711	T	0.74635	0.3742	L	0.38531	1.155	0.40452	D	0.980156	B	0.14012	0.009	B	0.12156	0.007	T	0.71652	-0.4528	10	0.56958	D	0.05	.	9.6199	0.39714	0.0917:0.0:0.9083:0.0	.	196	Q6NUK4	REEP3_HUMAN	H	196;181;198	ENSP00000362863:D196H;ENSP00000298249:D181H	ENSP00000298249:D181H	D	+	1	0	REEP3	65049441	1.000000	0.71417	0.998000	0.56505	0.732000	0.41865	2.669000	0.46825	2.691000	0.91804	0.655000	0.94253	GAC		0.428	REEP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001001330		3	15	0	0	0	2.56e-06	0	3	15					C	65379435	G	C	65379435	3	2	173	1	0	0	0	0	1	0	0	0	13206	942	33	4	612	4	REEP3	10	65379435	Missense_Mutation	SNP	G	TCGA-E8-A2EA-01A-11D-A17V-08	62223781	65379435	70155312	16	3662											
TRIM5	85363	broad.mit.edu	37	chr11	5686237	5686237	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggacaaataatcacagagagGggcacaatgaaaggaacaga	12	6	1	3			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr11:5686237G>C	ENST00000380034.3	-	8	1540	c.1284C>G	c.(1282-1284)ccC>ccG	p.P428P	TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000305836.5_Silent_p.P428P|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000483835.1_Intron	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	428	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)		TCACAGAGAGGGGCACAATGA	0.418																																						ENST00000305836.5																			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.(1282-1284)ccC>ccG		tripartite motif containing 5							100	96	98					11																	5686237		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.chr11:5686237G>C	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.1284C>G	11.37:g.5686237G>C						TRIM5_ENST00000483835.1_Intron|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000380034.3_Silent_p.P428P|TRIM5_ENST00000380027.1_Intron	p.P428P			Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	8	1586	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	428			B30.2/SPRY.		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.1284C>G	CCDS31393.1																																																																																				0.418	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		3	70	0	0	0	6.4e-05	0	3	70					C	5686237	G	C	5686237	2	2	173	1	0	0	0	0	0	0	0	1	16522	1219	43	4		4	TRIM5	11	5686237	Silent	SNP	G	TCGA-E8-A2EA-01A-11D-A17V-08		5686237	129320279	17	3663											
LRP5	4041	broad.mit.edu	37	chr11	68201226	68201226	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgcccagttcccctgcgcgcGgggtcagtgtgtggacctgc	15	15	1	0			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr11:68201226G>C	ENST00000294304.7	+	18	4026	c.3920G>C	c.(3919-3921)cGg>cCg	p.R1307P		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1307	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|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 apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCCTGCGCGCGGGGTCAGTGT	0.711																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(3919-3921)cGg>cCg		low density lipoprotein receptor-related protein 5							55	57	56					11																	68201226		2200	4292	6492	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68201226G>C	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.3920G>C	11.37:g.68201226G>C	ENSP00000294304:p.Arg1307Pro						p.R1307P	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			18	4026	+			1307			LDL-receptor class A 2.		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.3920G>C	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.760946	0.69763	.	.	ENSG00000162337	ENST00000294304	D	0.87650	-2.28	4.39	3.39	0.38822	.	0.179483	0.24836	U	0.035210	D	0.82728	0.5100	L	0.31578	0.945	0.38391	D	0.94539	P;P	0.43788	0.817;0.817	P;P	0.51806	0.68;0.68	T	0.82585	-0.0384	10	0.62326	D	0.03	.	3.5357	0.07793	0.3572:0.0:0.6428:0.0	.	1307;1307	Q9UES7;O75197	.;LRP5_HUMAN	P	1307	ENSP00000294304:R1307P	ENSP00000294304:R1307P	R	+	2	0	LRP5	67957802	0.981000	0.34729	0.996000	0.52242	0.976000	0.68499	2.361000	0.44160	2.298000	0.77334	0.456000	0.33151	CGG		0.711	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		3	43	0	0	0	1.23904e-05	0	3	43					C	68201226	G	C	68201226	3	2	173	1	0	0	0	0	1	0	0	0	8960	1116	39	4	3990	4	LRP5	11	68201226	Missense_Mutation	SNP	G	TCGA-E8-A2EA-01A-11D-A17V-08	62514989	68201226	66805290	18	3664											
DYRK4	8798	broad.mit.edu	37	chr12	4708955	4708955	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttatgaacaccagaaagGtgagccccatgtcagtccca	9	12	1	3			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr12:4708955G>A	ENST00000540757.2	+	8	941		c.e8+1		DYRK4_ENST00000543431.1_Splice_Site|DYRK4_ENST00000010132.5_Splice_Site	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4							cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CACCAGAAAGGTGAGCCCCAT	0.453																																						ENST00000540757.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.e8+1		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4							147	136	140					12																	4708955		2203	4300	6503	SO:0001630	splice_region_variant	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4708955G>A	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.781+1G>A	12.37:g.4708955G>A						DYRK4_ENST00000543431.1_Splice_Site|DYRK4_ENST00000010132.5_Splice_Site		NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		8	941	+								A8K8F7|Q8NEF2|Q92631	Splice_Site	SNP	ENST00000540757.2	37		CCDS8530.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362186	0.61403	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5187	0.84308	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DYRK4	4579216	1.000000	0.71417	0.997000	0.53966	0.744000	0.42396	7.036000	0.76524	2.443000	0.82685	0.561000	0.74099	.		0.453	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2		Intron	18	62	0	0	0	3.10358e-05	0	18	62					A	4708955	G	A	4708955	5	1	173	1	0	0	0	0	0	0	1	0	4858	1275	44	2	804	2	DYRK4	12	4708955	Splice_Site	SNP	G	TCGA-E8-A2EA-01A-11D-A17V-08		4708955	129142940	19	3665											
CAND1	55832	broad.mit.edu	37	chr12	67704013	67704013	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttgagtgtatgtacacacttCtagacagttgtcttgataga	9	6	2	4			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr12:67704013C>G	ENST00000545606.1	+	13	3714	c.3277C>G	c.(3277-3279)Cta>Gta	p.L1093V		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	1093					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GTACACACTTCTAGACAGTTG	0.343																																						ENST00000545606.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35						c.(3277-3279)Cta>Gta		cullin-associated and neddylation-dissociated 1							192	180	184					12																	67704013		2203	4300	6503	SO:0001583	missense	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67704013C>G		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"TBP interacting protein"	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.3277C>G	12.37:g.67704013C>G	ENSP00000442318:p.Leu1093Val						p.L1093V	NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	13	3714	+			1093					B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	c.3277C>G	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.311316	0.60414	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000544619	T;T	0.69806	-0.43;-0.43	5.43	1.5	0.22942	TATA-binding protein interacting (TIP20) (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80347	0.4606	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.978;0.999	T	0.78352	-0.2237	9	.	.	.	-7.4441	9.7052	0.40211	0.0:0.6174:0.0:0.3825	.	925;1093	Q86VP6-2;Q86VP6	.;CAND1_HUMAN	V	1093;1093;633	ENSP00000442318:L1093V;ENSP00000444089:L633V	.	L	+	1	2	CAND1	65990280	0.997000	0.39634	0.990000	0.47175	0.967000	0.64934	0.565000	0.23578	0.062000	0.16340	0.655000	0.94253	CTA		0.343	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		3	59	0	0	0	6.4e-05	0	3	59					G	67704013	C	G	67704013	3	3	173	1	0	0	0	0	1	0	0	0	2615	912	32	4	3327	4	CAND1	12	67704013	Missense_Mutation	SNP	C	TCGA-E8-A2EA-01A-11D-A17V-08	62995058	67704013	66147882	20	3666											
STOML3	161003	broad.mit.edu	37	chr13	39541133	39541133	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagactcagccagcaccatGgaggctgacttcagggattt	13	10	2	2			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr13:39541133G>A	ENST00000379631.4	-	7	1049	c.705C>T	c.(703-705)tcC>tcT	p.S235S	STOML3_ENST00000423210.1_Silent_p.S226S	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	235					signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		CCAGCACCATGGAGGCTGACT	0.468																																						ENST00000379631.4																			0				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11						c.(703-705)tcC>tcT		stomatin (EPB72)-like 3							79	75	77					13																	39541133		2203	4300	6503	SO:0001819	synonymous_variant	0					integral to membrane|plasma membrane		g.chr13:39541133G>A	BC025760	CCDS9367.1, CCDS45040.1	13q13.2	2004-03-05			ENSG00000133115	ENSG00000133115			19420	protein-coding gene	gene with protein product		608327				12122055	Standard	NM_145286		Approved	SRO, Epb7.2l	uc001uwx.3	Q8TAV4	OTTHUMG00000016763	ENST00000379631.4:c.705C>T	13.37:g.39541133G>A						STOML3_ENST00000423210.1_Silent_p.S226S	p.S235S	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)	7	1049	-		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)	235					B4E285|Q5JS35	Silent	SNP	ENST00000379631.4	37	c.705C>T	CCDS9367.1																																																																																				0.468	STOML3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044604.2			9	37	0	0	0	1.12685e-05	0	9	37					A	39541133	G	A	39541133	2	1	173	1	0	0	0	0	0	0	0	1	15314	1335	47	2		2	STOML3	13	39541133	Silent	SNP	G	TCGA-E8-A2EA-01A-11D-A17V-08		39541133	75628745	21	3667											
SLC15A1	6564	broad.mit.edu	37	chr13	99339859	99339859	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaatatgagaattccaatccCgtgacagagaagaccacttc	8	10	0	4	rs146831294		TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr13:99339859C>G	ENST00000376503.5	-	21	1858	c.1803G>C	c.(1801-1803)acG>acC	p.T601T		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	601					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	ATTCCAATCCCGTGACAGAGA	0.423																																						ENST00000376503.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1801-1803)acG>acC		solute carrier family 15 (oligopeptide transporter), member 1	Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)						135	127	129					13																	99339859		2203	4300	6503	SO:0001819	synonymous_variant	6564				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	g.chr13:99339859C>G	U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"Solute carriers"	10920	protein-coding gene	gene with protein product	"peptide transporter HPEPT1", "bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)", "solute carrier family 15 oligopeptide transporter member 1"	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.1803G>C	13.37:g.99339859C>G							p.T601T	NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN			21	1858	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		601					Q5VW82	Silent	SNP	ENST00000376503.5	37	c.1803G>C	CCDS9489.1																																																																																				0.423	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073		4	152	0	0	0	2.56e-06	0	4	152					G	99339859	C	G	99339859	2	3	173	1	0	0	0	0	0	0	0	1	14398	639	23	4		4	SLC15A1	13	99339859	Silent	SNP	C	TCGA-E8-A2EA-01A-11D-A17V-08	59798726	99339859	15830019	22	3668											
POTEG	404785	broad.mit.edu	37	chr14	19553736	19553736	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgctgccactgcttccCctgctgcagggggagcggca	16	13	0	0			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr14:19553736C>G	ENST00000409832.3	+	1	372	c.320C>G	c.(319-321)cCc>cGc	p.P107R		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	107										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CACTGCTTCCCCTGCTGCAGG	0.602																																						ENST00000409832.3																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(319-321)cCc>cGc		POTE ankyrin domain family, member G							198	221	213					14																	19553736		2196	4295	6491	SO:0001583	missense	404785							g.chr14:19553736C>G		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33896	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 4"	608916	"ANKRD26-like family C, member 2"	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.320C>G	14.37:g.19553736C>G	ENSP00000386971:p.Pro107Arg						p.P107R	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN			1	372	+			107					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.320C>G	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	c	7.592	0.670906	0.14776	.	.	ENSG00000222036	ENST00000409832	T	0.27890	1.64	0.568	-0.544	0.11847	.	.	.	.	.	T	0.26231	0.0640	L	0.59436	1.845	0.09310	N	1	P	0.40578	0.722	B	0.38803	0.282	T	0.15407	-1.0438	8	0.66056	D	0.02	.	.	.	.	.	107	Q6S5H5	POTEG_HUMAN	R	107	ENSP00000386971:P107R	ENSP00000386971:P107R	P	+	2	0	POTEG	18623736	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.239000	0.18023	-0.280000	0.09154	0.409000	0.27619	CCC		0.602	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		6	451	0	0	0	3.59834e-05	0	6	451					G	19553736	C	G	19553736	3	3	173	1	0	0	0	0	1	0	0	0	12266	623	22	4	322	4	POTEG	14	19553736	Missense_Mutation	SNP	C	TCGA-E8-A2EA-01A-11D-A17V-08		19553736	87795804	23	3669											
ADAMTS7	11173	broad.mit.edu	37	chr15	79069817	79069817	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgcagaaggcagagtaggccCcgtactggaggcggcactgg	17	11	0	2			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr15:79069817C>G	ENST00000388820.4	-	9	1646	c.1436G>C	c.(1435-1437)gGg>gCg	p.G479A	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	479	Disintegrin.				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 chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGAGTAGGCCCCGTACTGGAG	0.652																																						ENST00000388820.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(1435-1437)gGg>gCg		ADAM metallopeptidase with thrombospondin type 1 motif, 7							51	46	47					15																	79069817		2195	4291	6486	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79069817C>G	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.1436G>C	15.37:g.79069817C>G	ENSP00000373472:p.Gly479Ala					ADAMTS7_ENST00000566303.1_Intron	p.G479A	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			9	1646	-			479			Disintegrin.		Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.1436G>C	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	c	15.17	2.753111	0.49362	.	.	ENSG00000136378	ENST00000388820	T	0.11821	2.74	4.02	4.02	0.46733	.	0.000000	0.85682	U	0.000000	T	0.48429	0.1499	H	0.95043	3.615	0.53688	D	0.999974	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.987	T	0.65043	-0.6264	10	0.87932	D	0	.	13.6895	0.62537	0.0:1.0:0.0:0.0	.	479;479	A8MQ00;Q9UKP4	.;ATS7_HUMAN	A	479	ENSP00000373472:G479A	ENSP00000373472:G479A	G	-	2	0	ADAMTS7	76856872	0.999000	0.42202	0.217000	0.23759	0.022000	0.10575	5.641000	0.67881	2.078000	0.62432	0.450000	0.29827	GGG		0.652	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		3	16	0	0	0	6.4e-05	0	3	16					G	79069817	C	G	79069817	3	3	173	1	0	0	0	0	1	0	0	0	271	623	22	4	3688	4	ADAMTS7	15	79069817	Missense_Mutation	SNP	C	TCGA-E8-A2EA-01A-11D-A17V-08		79069817	23461575	24	3670											
CDR2	1039	broad.mit.edu	37	chr16	22360757	22360757	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgcaggcattcaatcgtttCagtcaggctgtgaggaacag	12	8	3	1			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr16:22360757C>T	ENST00000268383.2	-	4	656	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	117						cytoplasm (GO:0005737)				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		TCAATCGTTTCAGTCAGGCTG	0.512																																						ENST00000268383.2																			0				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11						c.(349-351)Gaa>Aaa		cerebellar degeneration-related protein 2, 62kDa							99	103	101					16																	22360757		2197	4300	6497	SO:0001583	missense	1039					nucleus	protein binding	g.chr16:22360757C>T	M63256	CCDS32404.1	16p13.1-p12	2008-02-05	2002-08-29			ENSG00000140743			1799	protein-coding gene	gene with protein product	"Yo paraneoplastic antigen"	117340	"cerebellar degeneration-related protein (62kD)"			2014264	Standard	NM_001802		Approved	CDR62, Yo	uc002dkn.3	Q01850		ENST00000268383.2:c.349G>A	16.37:g.22360757C>T	ENSP00000268383:p.Glu117Lys						p.E117K	NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN		GBM - Glioblastoma multiforme(48;0.0188)	4	656	-			117					A8K8A8|Q13977	Missense_Mutation	SNP	ENST00000268383.2	37	c.349G>A	CCDS32404.1	.	.	.	.	.	.	.	.	.	.	C	35	5.482990	0.96307	.	.	ENSG00000140743	ENST00000268383	T	0.28895	1.59	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.56108	0.1963	M	0.75777	2.31	0.58432	D	0.999999	D	0.89917	1.0	D	0.74023	0.982	T	0.47005	-0.9150	10	0.20046	T	0.44	-8.6816	19.7365	0.96208	0.0:1.0:0.0:0.0	.	117	Q01850	CDR2_HUMAN	K	117	ENSP00000268383:E117K	ENSP00000268383:E117K	E	-	1	0	CDR2	22268258	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.157000	0.77461	2.672000	0.90937	0.655000	0.94253	GAA		0.512	CDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430081.1			10	142	0	0	0	6.40141e-05	0	10	142					T	22360757	C	T	22360757	3	4	173	1	0	0	0	0	1	0	0	0	3172	835	29	2	1023	2	CDR2	16	22360757	Missense_Mutation	SNP	C	TCGA-E8-A2EA-01A-11D-A17V-08		22360757	67993996	25	3671											
SAMD1	646457	broad.mit.edu	37	chr19	14199308	14199308	+	5'Flank	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtgctcgtagattttcAgggctggcccgaggcggatg	17	8	1	1			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr19:14199308A>G	ENST00000548523.1	-	0	0				SAMD1_ENST00000533683.2_Missense_Mutation_p.L407P|C19orf67_ENST00000547589.1_5'Flank|SAMD1_ENST00000541938.1_5'Flank	NM_001277378.1	NP_001264307.1	A6NJJ6	CS067_HUMAN	chromosome 19 open reading frame 67											central_nervous_system(1)	1						GTAGATTTTCAGGGCTGGCCC	0.582																																						ENST00000533683.2																			0				endometrium(3)	3						c.(1219-1221)cTg>cCg		sterile alpha motif domain containing 1							63	70	68					19																	14199308		2046	4168	6214	SO:0001631	upstream_gene_variant	90378					cytoplasm|extracellular region		g.chr19:14199308A>G		CCDS59360.1	19p13.12	2008-07-02			ENSG00000188032	ENSG00000188032			34354	protein-coding gene	gene with protein product							Standard	NM_001277378		Approved		uc031rjr.1	A6NJJ6			19.37:g.14199308A>G	Exception_encountered						p.L407P	NM_138352.1	NP_612361.1	Q6SPF0	SAMD1_HUMAN		GBM - Glioblastoma multiforme(1328;0.000411)|STAD - Stomach adenocarcinoma(1328;0.00644)|Lung(535;0.199)	5	1507	-		Renal(1328;0.00183)|Hepatocellular(1079;0.00826)	513						Missense_Mutation	SNP	ENST00000548523.1	37	c.1220T>C	CCDS59360.1	.	.	.	.	.	.	.	.	.	.	A	15.71	2.915250	0.52546	.	.	ENSG00000141858	ENST00000533683;ENST00000269724	T;T	0.53640	0.61;0.61	4.61	4.61	0.57282	.	0.000000	0.64402	D	0.000004	T	0.74635	0.3742	H	0.94306	3.52	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.80730	-0.1252	10	0.87932	D	0	-15.8885	10.3127	0.43718	1.0:0.0:0.0:0.0	.	407	E9PIW9	.	P	407;107	ENSP00000431971:L407P;ENSP00000269724:L107P	ENSP00000269724:L107P	L	-	2	0	SAMD1	14060308	1.000000	0.71417	1.000000	0.80357	0.295000	0.27426	8.274000	0.89889	1.937000	0.56155	0.528000	0.53228	CTG		0.582	C19orf67-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403368.1	XM_929382		3	67	0	0	0	6.4e-05	0	3	67					G	14199308	A	G	14199308	1	3	173	0	1	0	0	0	0	0	0	0	13814	188	7	3		3	SAMD1	19	14199308	5'Flank	SNP	A	TCGA-E8-A2EA-01A-11D-A17V-08		14199308	44929675	26	3672											
ZNF577	84765	broad.mit.edu	37	chr19	52376484	52376484	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgtctattgagccggcacttCcggctgaaggcttttccgca	11	12	1	2			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr19:52376484C>A	ENST00000301399.5	-	7	1124	c.759G>T	c.(757-759)cgG>cgT	p.R253R	ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000420592.1_Silent_p.R194R|ZNF577_ENST00000451628.2_Silent_p.R194R|ZNF577_ENST00000412216.1_Intron	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	253					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GCCGGCACTTCCGGCTGAAGG	0.498																																						ENST00000420592.1																			0				breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(580-582)cgG>cgT		zinc finger protein 577							67	62	64					19																	52376484		2203	4300	6503	SO:0001819	synonymous_variant	84765				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52376484C>A	AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"Zinc fingers, C2H2-type", "-"	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.759G>T	19.37:g.52376484C>A						ZNF577_ENST00000301399.5_Silent_p.R253R|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000451628.2_Silent_p.R194R|ZNF577_ENST00000412216.1_Intron	p.R194R			Q9BSK1	ZN577_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	1915	-		all_neural(266;0.0602)	253					A8K0B4|A8K6Z7|C9JFB9	Silent	SNP	ENST00000301399.5	37	c.582G>T	CCDS12842.2																																																																																				0.498	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679		12	29	1	0	2.80697e-09	6.40141e-05	3.46735e-07	12	29					A	52376484	C	A	52376484	2	1	173	1	0	0	0	0	0	0	0	1	18006	842	30	4		4	ZNF577	19	52376484	Silent	SNP	C	TCGA-E8-A2EA-01A-11D-A17V-08	38177176	52376484	6752499	27	3673											
ZNF580	51157	broad.mit.edu	37	chr19	56153901	56153901	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgccgccgcggccaccCcaccctcggtcctcctctcc	8	24	1	0			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr19:56153901C>G	ENST00000543039.1	+	1	484	c.27C>G	c.(25-27)ccC>ccG	p.P9P	ZNF580_ENST00000325333.5_Silent_p.P9P|ZNF581_ENST00000587252.1_Intron|ZNF581_ENST00000270451.5_5'Flank|ZNF580_ENST00000545125.1_Silent_p.P9P|ZNF581_ENST00000588537.1_5'Flank	NM_016202.2	NP_057286.1	Q9UK33	ZN580_HUMAN	zinc finger protein 580	9	Pro-rich.				cellular response to hydrogen peroxide (GO:0070301)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte chemotaxis (GO:0002690)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			lung(1)|upper_aerodigestive_tract(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CGCGGCCACCCCACCCTCGGT	0.647																																						ENST00000543039.1																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(25-27)ccC>ccG		zinc finger protein 580							14	16	16					19																	56153901		1813	3807	5620	SO:0001819	synonymous_variant	51157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56153901C>G	AF184939	CCDS12931.1	19q13.42	2013-09-20			ENSG00000213015	ENSG00000213015		"Zinc fingers, C2H2-type"	29473	protein-coding gene	gene with protein product						12477932	Standard	NM_001163423		Approved		uc002qlo.3	Q9UK33	OTTHUMG00000180868	ENST00000543039.1:c.27C>G	19.37:g.56153901C>G						ZNF580_ENST00000545125.1_Silent_p.P9P|ZNF581_ENST00000587252.1_Intron|ZNF580_ENST00000325333.5_Silent_p.P9P	p.P9P	NM_016202.2	NP_057286.1	Q9UK33	ZN580_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	1	484	+			9			Pro-rich.		B2RC05|Q9NPP7	Silent	SNP	ENST00000543039.1	37	c.27C>G	CCDS12931.1																																																																																				0.647	ZNF580-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453428.1	NM_016202		3	36	0	0	0	6.4e-05	0	3	36					G	56153901	C	G	56153901	2	3	173	1	0	0	0	0	0	0	0	1	18009	610	22	4		4	ZNF580	19	56153901	Silent	SNP	C	TCGA-E8-A2EA-01A-11D-A17V-08	3777417	56153901	2975082	28	3674											
CSF2RB	1439	broad.mit.edu	37	chr22	37333582	37333582	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcccgcctgccgcctccCacacacctgagaaacaggct	9	19	0	1			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr22:37333582C>T	ENST00000403662.3	+	14	1954	c.1732C>T	c.(1732-1734)Cac>Tac	p.H578Y	CSF2RB_ENST00000406230.1_Missense_Mutation_p.H584Y|CSF2RB_ENST00000536485.1_Missense_Mutation_p.H525Y|CSF2RB_ENST00000262825.5_Missense_Mutation_p.H584Y			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	578					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	TGCCGCCTCCCACACACCTGA	0.662																																						ENST00000262825.5																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42						c.(1750-1752)Cac>Tac		colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						20	23	22					22																	37333582		2202	4298	6500	SO:0001583	missense	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37333582C>T	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"CD molecules", "Fibronectin type III domain containing"	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.1732C>T	22.37:g.37333582C>T	ENSP00000384053:p.His578Tyr					CSF2RB_ENST00000536485.1_Missense_Mutation_p.H525Y|CSF2RB_ENST00000406230.1_Missense_Mutation_p.H584Y|CSF2RB_ENST00000403662.3_Missense_Mutation_p.H578Y	p.H584Y	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN			14	1967	+			578					Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	c.1750C>T	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.033067	0.35893	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	D;D;D;D	0.91464	-2.34;-2.85;-2.85;-2.85	5.08	-9.01	0.00744	.	2.704760	0.01041	N	0.004317	T	0.77130	0.4085	N	0.22421	0.69	0.09310	N	1	P;P	0.41569	0.755;0.641	B;B	0.37550	0.253;0.171	T	0.72090	-0.4395	10	0.18276	T	0.48	-1.2323	2.4987	0.04628	0.4742:0.2221:0.1977:0.106	.	584;578	P32927-2;P32927	.;IL3RB_HUMAN	Y	578;578;584;584;525	ENSP00000384053:H578Y;ENSP00000262825:H584Y;ENSP00000385271:H584Y;ENSP00000440003:H525Y	ENSP00000262825:H584Y	H	+	1	0	CSF2RB	35663528	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.243000	0.01194	-0.676000	0.05238	-0.357000	0.07601	CAC		0.662	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		7	18	0	0	0	5.18039e-06	0	7	18					T	37333582	C	T	37333582	3	4	173	1	0	0	0	0	1	0	0	0	3935	594	21	2	1782	2	CSF2RB	22	37333582	Missense_Mutation	SNP	C	TCGA-E8-A2EA-01A-11D-A17V-08		37333582	13970984	29	3675											
PCDH11X	27328	broad.mit.edu	37	chrX	91131979	91131979	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgatacaaatgacaaccaccCagtctttaaggagacagaga	8	9	1	4	rs201607890		TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chrX:91131979C>G	ENST00000373094.1	+	2	1585	c.740C>G	c.(739-741)cCa>cGa	p.P247R	PCDH11X_ENST00000373097.1_Missense_Mutation_p.P247R|PCDH11X_ENST00000504220.2_Missense_Mutation_p.P247R|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P247R|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P247R|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P247R|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P247R|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P247R|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P247R	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	247	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GACAACCACCCAGTCTTTAAG	0.433																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(739-741)cCa>cGa		protocadherin 11 X-linked							146	130	136					X																	91131979		2203	4299	6502	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91131979C>G	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.740C>G	X.37:g.91131979C>G	ENSP00000362186:p.Pro247Arg					PCDH11X_ENST00000406881.1_Missense_Mutation_p.P247R|PCDH11X_ENST00000504220.1_Missense_Mutation_p.P247R|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P247R|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P247R|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P247R|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P247R|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P247R|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P247R	p.P247R	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			2	1585	+			247			Cadherin 2.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.740C>G	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.960629	0.34565	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	D;D;D;D;D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91;-1.91;-1.91;-1.91;-1.91	4.63	3.76	0.43208	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.055638	0.64402	D	0.000001	D	0.95300	0.8475	H	0.99211	4.47	0.58432	D	0.999999	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	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.95093	0.8223	10	0.87932	D	0	.	11.0009	0.47604	0.0:0.9065:0.0:0.0935	.	247;247;247;247;247;247;247;247	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	R	247	ENSP00000378746:P247R;ENSP00000362186:P247R;ENSP00000362189:P247R;ENSP00000355040:P247R;ENSP00000362180:P247R;ENSP00000423762:P247R;ENSP00000355105:P247R;ENSP00000384758:P247R;ENSP00000298274:P247R	ENSP00000298274:P247R	P	+	2	0	PCDH11X	91018635	1.000000	0.71417	0.013000	0.15412	0.225000	0.24961	5.828000	0.69307	0.746000	0.32786	-0.268000	0.10319	CCA		0.433	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		4	127	0	0	0	2.56e-06	0	4	127					G	91131979	C	G	91131979	3	3	173	1	0	0	0	0	1	0	0	0	11508	594	21	4	746	4	PCDH11X	23	91131979	Missense_Mutation	SNP	C	TCGA-E8-A2EA-01A-11D-A17V-08		91131979	64138581	30	3676											
NXF3	56000	broad.mit.edu	37	chrX	102333522	102333522	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggggtagcaatgaaggtccGggtgaaggcgagaacagaac	17	6	0	4			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chrX:102333522G>C	ENST00000395065.3	-	17	1518	c.1417C>G	c.(1417-1419)Cgg>Ggg	p.R473G	NXF3_ENST00000425644.1_Missense_Mutation_p.R145G	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	473	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				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)	p.R473R(1)		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						ATGAAGGTCCGGGTGAAGGCG	0.542																																						ENST00000395065.3																			1	Substitution - coding silent(1)	p.R473R(1)	lung(1)	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.(1417-1419)Cgg>Ggg		nuclear RNA export factor 3							275	221	240					X																	102333522		2203	4297	6500	SO:0001583	missense	56000					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:102333522G>C	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.1417C>G	X.37:g.102333522G>C	ENSP00000378504:p.Arg473Gly					NXF3_ENST00000425644.1_Missense_Mutation_p.R145G|NXF3_ENST00000497850.1_5'UTR	p.R473G	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN			17	1518	-			473			NTF2.		B4DYS7|Q5H9I1|Q9H1A9	Missense_Mutation	SNP	ENST00000395065.3	37	c.1417C>G	CCDS14503.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.742802	0.30865	.	.	ENSG00000147206	ENST00000395065;ENST00000425644	D;T	0.89343	-2.5;-0.21	4.23	3.27	0.37495	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.132595	0.49305	D	0.000143	D	0.95529	0.8547	H	0.95884	3.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95504	0.8580	10	0.87932	D	0	-4.8264	9.8949	0.41311	0.0:0.0:0.7962:0.2038	.	473	Q9H4D5	NXF3_HUMAN	G	473;145	ENSP00000378504:R473G;ENSP00000401026:R145G	ENSP00000378504:R473G	R	-	1	2	NXF3	102220178	1.000000	0.71417	0.205000	0.23548	0.037000	0.13140	1.946000	0.40283	2.065000	0.61736	0.597000	0.82753	CGG		0.542	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1	NM_022052		4	188	0	0	0	3.59834e-05	0	4	188					C	102333522	G	C	102333522	3	2	173	1	0	0	0	0	1	0	0	0	10785	1115	39	4	190	4	NXF3	23	102333522	Missense_Mutation	SNP	G	TCGA-E8-A2EA-01A-11D-A17V-08	11201543	102333522	52937038	31	3677											
PLXNB3	5365	broad.mit.edu	37	chrX	153039673	153039673	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aacctgggcatcagcaaggaGgaggtgcgcgtgcacatcgg	16	10	1	0			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chrX:153039673G>C	ENST00000361971.5	+	21	3666	c.3552G>C	c.(3550-3552)gaG>gaC	p.E1184D	PLXNB3_ENST00000538282.1_Missense_Mutation_p.E794D|PLXNB3_ENST00000538966.1_Missense_Mutation_p.E1207D|PLXNB3_ENST00000538776.1_Missense_Mutation_p.E837D|SRPK3_ENST00000489426.1_5'Flank	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1184	IPT/TIG 4.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TCAGCAAGGAGGAGGTGCGCG	0.711																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(3619-3621)gaG>gaC		plexin B3							15	14	14					X																	153039673		2177	4272	6449	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153039673G>C	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.3552G>C	X.37:g.153039673G>C	ENSP00000355378:p.Glu1184Asp					PLXNB3_ENST00000538776.1_Missense_Mutation_p.E837D|PLXNB3_ENST00000538282.1_Missense_Mutation_p.E794D|PLXNB3_ENST00000361971.5_Missense_Mutation_p.E1184D	p.E1207D	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			22	3892	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		1184			IPT/TIG 4.		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.3621G>C	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	G	6.367	0.435879	0.12104	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	5.31	0.123	0.14709	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.398644	0.28241	N	0.016061	T	0.59662	0.2210	L	0.31926	0.97	0.34500	D	0.705899	B;B;B	0.16166	0.005;0.016;0.005	B;B;B	0.20384	0.029;0.026;0.029	T	0.49523	-0.8931	10	0.12103	T	0.63	.	6.4732	0.22020	0.2927:0.3197:0.3876:0.0	.	837;1207;1184	B7Z3H9;F5H773;Q9ULL4	.;.;PLXB3_HUMAN	D	1207;1184;837;794	ENSP00000442736:E1207D;ENSP00000355378:E1184D;ENSP00000445569:E837D;ENSP00000441919:E794D	ENSP00000355378:E1184D	E	+	3	2	PLXNB3	152692867	0.982000	0.34865	0.995000	0.50966	0.095000	0.18619	0.141000	0.16076	-0.114000	0.11936	-2.724000	0.00131	GAG		0.711	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			4	13	0	0	0	1.23904e-05	0	4	13					C	153039673	G	C	153039673	3	2	173	1	0	0	0	0	1	0	0	0	12125	991	35	4	3748	4	PLXNB3	23	153039673	Missense_Mutation	SNP	G	TCGA-E8-A2EA-01A-11D-A17V-08	50706151	153039673	2230887	32	3678											
TANC1	85461	broad.mit.edu	37	chr2	160087145	160087145	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	actgcgaggttccaacagcaGagcaatcctccaagccgcag	10	14	0	1			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chr2:160087145G>C	ENST00000263635.6	+	27	5445	c.5208G>C	c.(5206-5208)caG>caC	p.Q1736H	TANC1_ENST00000454300.1_Missense_Mutation_p.Q1630H	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1736					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TCCAACAGCAGAGCAATCCTC	0.577																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(5206-5208)caG>caC		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							76	84	81					2																	160087145		2080	4210	6290	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160087145G>C	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29364	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.5208G>C	2.37:g.160087145G>C	ENSP00000263635:p.Gln1736His					TANC1_ENST00000454300.1_Missense_Mutation_p.Q1630H	p.Q1736H	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			27	5445	+			1736					C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.5208G>C	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528590	0.64860	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.72282	-0.64;-0.64	6.06	5.17	0.71159	.	0.054227	0.85682	D	0.000000	T	0.76608	0.4011	L	0.60455	1.87	0.51233	D	0.999919	D	0.67145	0.996	P	0.59703	0.862	T	0.76462	-0.2950	9	.	.	.	.	9.9892	0.41860	0.1708:0.0:0.8292:0.0	.	1736	Q9C0D5	TANC1_HUMAN	H	1630;1736	ENSP00000396339:Q1630H;ENSP00000263635:Q1736H	.	Q	+	3	2	TANC1	159795391	.	.	0.977000	0.42913	0.967000	0.64934	.	.	1.547000	0.49401	0.655000	0.94253	CAG		0.577	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			8	109	0	0	0	1	0	8	109					C	160087145	G	C	160087145	3	2	174	1	0	0	0	0	1	0	0	0	15541	933	33	4	5311	4	TANC1	2	160087145	Missense_Mutation	SNP	G	TCGA-E8-A2JQ-01A-11D-A19J-08		160087145	83112228	1	3679											
HECW2	57520	broad.mit.edu	37	chr2	197298099	197298099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caatgtgtaccgcatctgggGatttcgacgcctcacaaaaa	9	11	2	0			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chr2:197298099G>A	ENST00000260983.3	-	2	231	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S		NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	17					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CGCATCTGGGGATTTCGACGC	0.577																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(49-51)Ccc>Tcc		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							74	67	69					2																	197298099		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197298099G>A	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.49C>T	2.37:g.197298099G>A	ENSP00000260983:p.Pro17Ser						p.P17S	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			2	231	-			17					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.49C>T	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.302579	0.81136	.	.	ENSG00000138411	ENST00000260983;ENST00000452031;ENST00000427457	T;T;T	0.36157	1.27;1.27;1.27	5.27	5.27	0.74061	.	0.140647	0.48767	D	0.000164	T	0.34337	0.0894	L	0.38838	1.175	0.49051	D	0.999744	B	0.21452	0.056	B	0.21546	0.035	T	0.10543	-1.0625	10	0.56958	D	0.05	.	19.0714	0.93138	0.0:0.0:1.0:0.0	.	17	Q9P2P5	HECW2_HUMAN	S	17	ENSP00000260983:P17S;ENSP00000409918:P17S;ENSP00000395770:P17S	ENSP00000260983:P17S	P	-	1	0	HECW2	197006344	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.850000	0.69473	2.736000	0.93811	0.561000	0.74099	CCC		0.577	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		5	69	0	0	0	1	0	5	69					A	197298099	G	A	197298099	3	1	174	1	0	0	0	0	1	0	0	0	7043	1174	41	2	4781	2	HECW2	2	197298099	Missense_Mutation	SNP	G	TCGA-E8-A2JQ-01A-11D-A19J-08	37210954	197298099	45901274	2	3680											
GPSM3	63940	broad.mit.edu	37	chr6	32159644	32159644	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caccaggtccagaaggagttCagtctgcagggagagcaggg	16	9	2	2			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chr6:32159644C>T	ENST00000375040.3	-	3	579	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	GPSM3_ENST00000375043.3_Missense_Mutation_p.E63K|GPSM3_ENST00000487761.1_Missense_Mutation_p.E60K|PBX2_ENST00000375050.4_5'Flank	NM_001276501.1	NP_001263430.1	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3	63	GoLoco 1. {ECO:0000255|PROSITE- ProRule:PRU00097}.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cytoplasm (GO:0005737)	GDP-dissociation inhibitor activity (GO:0005092)			large_intestine(1)	1						AGAAGGAGTTCAGTCTGCAGG	0.672																																						ENST00000375040.3																			0				large_intestine(1)	1						c.(187-189)Gaa>Aaa		G-protein signaling modulator 3							34	44	41					6																	32159644		1507	2707	4214	SO:0001583	missense	63940				signal transduction	cytoplasm	GTPase activator activity|protein binding	g.chr6:32159644C>T	AF155657	CCDS34419.1	6p21.3	2010-06-24	2010-06-24	2004-02-04	ENSG00000213654	ENSG00000213654			13945	protein-coding gene	gene with protein product	"activator of G-protein signaling 4"		"chromosome 6 open reading frame 9", "G-protein signalling modulator 3 (AGS3-like, C. elegans)"	C6orf9		2259622, 15096500	Standard	NM_022107		Approved	NG1, G18, G18.1a, G18.1b, G18.2, AGS4	uc003oaz.3	Q9Y4H4	OTTHUMG00000031244	ENST00000375040.3:c.187G>A	6.37:g.32159644C>T	ENSP00000364180:p.Glu63Lys					GPSM3_ENST00000375043.3_Missense_Mutation_p.E63K|GPSM3_ENST00000487761.1_Missense_Mutation_p.E60K	p.E63K	NM_001276501.1	NP_001263430.1	Q9Y4H4	GPSM3_HUMAN			3	579	-			63			GoLoco 1.		A2BFJ3	Missense_Mutation	SNP	ENST00000375040.3	37	c.187G>A	CCDS34419.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.214988	0.79352	.	.	ENSG00000213654	ENST00000487761;ENST00000375040;ENST00000375043	.	.	.	4.19	4.19	0.49359	GoLoco motif (3);	0.000000	0.64402	U	0.000015	T	0.53674	0.1811	L	0.27053	0.805	0.45477	D	0.998445	D;D	0.69078	0.997;0.997	D;D	0.77004	0.989;0.989	T	0.60984	-0.7154	9	0.72032	D	0.01	-17.9208	11.8856	0.52600	0.0:1.0:0.0:0.0	.	63;63	Q9Y4H4;A2BFJ3	GPSM3_HUMAN;.	K	60;63;63	.	ENSP00000364180:E63K	E	-	1	0	GPSM3	32267622	0.973000	0.33851	0.989000	0.46669	0.928000	0.56348	3.635000	0.54309	2.176000	0.68965	0.305000	0.20034	GAA		0.672	GPSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076509.1	NM_022107		4	60	0	0	0	1	0	4	60					T	32159644	C	T	32159644	3	4	174	1	0	0	0	0	1	0	0	0	6736	835	29	2	303	2	GPSM3	6	32159644	Missense_Mutation	SNP	C	TCGA-E8-A2JQ-01A-11D-A19J-08		32159644	138955423	3	3681											
AUTS2	26053	broad.mit.edu	37	chr7	70249984	70249984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcatcacagcaacttcCtcaaccctgctgcccaccta	3	20	3	0	rs34479874		TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chr7:70249984C>T	ENST00000342771.4	+	16	2524	c.2203C>T	c.(2203-2205)Ctc>Ttc	p.L735F	AUTS2_ENST00000406775.2_Missense_Mutation_p.L711F	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	735										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CAGCAACTTCCTCAACCCTGC	0.517																																						ENST00000342771.4																			0				breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50						c.(2203-2205)Ctc>Ttc		autism susceptibility candidate 2							107	91	97					7																	70249984		2203	4300	6503	SO:0001583	missense	26053							g.chr7:70249984C>T	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.2203C>T	7.37:g.70249984C>T	ENSP00000344087:p.Leu735Phe					AUTS2_ENST00000406775.2_Missense_Mutation_p.L711F	p.L735F	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	16	2524	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	735					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.2203C>T	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	C	34	5.294758	0.95546	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.53206	0.67;0.63	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.70124	0.3188	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.999;0.998	T	0.66913	-0.5803	9	.	.	.	-27.5929	20.3732	0.98896	0.0:1.0:0.0:0.0	.	187;711;735	B4DLG0;Q8WXX7-2;Q8WXX7	.;.;AUTS2_HUMAN	F	711;735	ENSP00000385263:L711F;ENSP00000344087:L735F	.	L	+	1	0	AUTS2	69887920	1.000000	0.71417	0.990000	0.47175	0.985000	0.73830	6.986000	0.76200	2.809000	0.96659	0.650000	0.86243	CTC		0.517	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			4	59	0	0	0	1	0	4	59					T	70249984	C	T	70249984	3	4	174	1	0	0	0	0	1	0	0	0	1225	681	24	2	2410	2	AUTS2	7	70249984	Missense_Mutation	SNP	C	TCGA-E8-A2JQ-01A-11D-A19J-08		70249984	88888679	4	3682											
AKR1D1	6718	broad.mit.edu	37	chr7	137801382	137801382	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcaggtggcgcgatcatcctGaatacccatttcatgatgaa	10	10	2	3			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chr7:137801382G>A	ENST00000242375.3	+	9	997	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000432161.1_Silent_p.*291*|AKR1D1_ENST00000411726.2_Missense_Mutation_p.E278K	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	319					androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|C21-steroid hormone metabolic process (GO:0008207)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|steroid binding (GO:0005496)			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23					Azelaic Acid(DB00548)|Finasteride(DB01216)	CGATCATCCTGAATACCCATT	0.443																																						ENST00000242375.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						c.(955-957)Gaa>Aaa		aldo-keto reductase family 1, member D1							140	138	139					7																	137801382		2203	4300	6503	SO:0001583	missense	6718				androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding	g.chr7:137801382G>A	Z28339	CCDS5846.1, CCDS55169.1, CCDS55170.1	7q32-q33	2012-12-04	2012-12-04		ENSG00000122787	ENSG00000122787	1.3.99.6	"Aldo-keto reductases"	388	protein-coding gene	gene with protein product	"delta 4-3-ketosteroid-5-beta-reductase"	604741	"aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)"	SRD5B1		7508385, 10343119	Standard	NM_005989		Approved		uc003vtz.3	P51857	OTTHUMG00000155787	ENST00000242375.3:c.955G>A	7.37:g.137801382G>A	ENSP00000242375:p.Glu319Lys					AKR1D1_ENST00000411726.2_Missense_Mutation_p.E278K|AKR1D1_ENST00000432161.1_Silent_p.*291*|AKR1D1_ENST00000468877.2_3'UTR	p.E319K	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN			9	997	+			319					A1L4P6|A8K060|B4DPN3|B4DPN8	Missense_Mutation	SNP	ENST00000242375.3	37	c.955G>A	CCDS5846.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.985988	0.53934	.	.	ENSG00000122787	ENST00000411726;ENST00000242375	T;T	0.50277	0.75;0.75	4.88	4.88	0.63580	NADP-dependent oxidoreductase domain (2);	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	.	.	.	0.58432	D	0.999998	D;B	0.58268	0.982;0.034	P;B	0.55303	0.773;0.026	T	0.57359	-0.7825	9	0.37606	T	0.19	.	15.561	0.76244	0.0:0.0:1.0:0.0	.	278;319	B4DPN8;P51857	.;AK1D1_HUMAN	K	278;319	ENSP00000402374:E278K;ENSP00000242375:E319K	ENSP00000242375:E319K	E	+	1	0	AKR1D1	137451922	1.000000	0.71417	0.995000	0.50966	0.076000	0.17211	8.394000	0.90185	2.539000	0.85634	0.655000	0.94253	GAA		0.443	AKR1D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341637.1	NM_005989		6	65	0	0	0	1	0	6	65					A	137801382	G	A	137801382	3	1	174	1	0	0	0	0	1	0	0	0	473	1291	45	2	989	2	AKR1D1	7	137801382	Missense_Mutation	SNP	G	TCGA-E8-A2JQ-01A-11D-A19J-08	67551398	137801382	21337281	5	3683											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		24	68	0	0	0	1	0	24	68					T	140453136	A	T	140453136	3	4	174	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E8-A2JQ-01A-11D-A19J-08	2651754	140453136	18685527	6	3684											
DOCK8	81704	broad.mit.edu	37	chr9	406991	406991	+	Missense_Mutation	SNP	C	C	T													cagcatgttcgatctgacttCcgagtaccgccagcagcact							TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chr9:406991C>T	ENST00000453981.1	+	28	3564	c.3452C>T	c.(3451-3453)tCc>tTc	p.S1151F	DOCK8_ENST00000432829.2_Missense_Mutation_p.S1083F|DOCK8_ENST00000382329.1_Missense_Mutation_p.S618F|DOCK8_ENST00000469391.1_Missense_Mutation_p.S1051F			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1151					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GATCTGACTTCCGAGTACCGC	0.522																																						ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(3247-3249)tCc>tTc		dedicator of cytokinesis 8							103	99	100					9																	406991		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:406991C>T	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.3452C>T	9.37:g.406991C>T	ENSP00000408464:p.Ser1151Phe					DOCK8_ENST00000453981.1_Missense_Mutation_p.S1151F|DOCK8_ENST00000469391.1_Missense_Mutation_p.S1051F|DOCK8_ENST00000382329.1_Missense_Mutation_p.S618F	p.S1083F	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	28	3564	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1151					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.3248C>T	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476711	0.44044	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.62	5.62	0.85841	.	0.370945	0.34245	N	0.004135	T	0.26919	0.0659	L	0.29908	0.895	0.19300	N	0.999974	B;B;B	0.20164	0.012;0.042;0.012	B;B;B	0.29716	0.066;0.106;0.066	T	0.23404	-1.0189	10	0.56958	D	0.05	.	20.0246	0.97519	0.0:1.0:0.0:0.0	.	1051;618;1151	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	F	1151;1119;1083;1051;618	ENSP00000408464:S1151F;ENSP00000394888:S1083F;ENSP00000419438:S1051F;ENSP00000371766:S618F	ENSP00000287364:S1119F	S	+	2	0	DOCK8	396991	0.075000	0.21258	0.068000	0.19968	0.816000	0.46133	3.722000	0.54948	2.810000	0.96702	0.650000	0.86243	TCC		0.522	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		7	120	0	0	0	1	0	7	120					T	406991	C	T	406991	3	4	174	1	0	0	0	0	1	0	0	0	4693	855	30	2	3562	2	DOCK8	9	406991	Missense_Mutation	SNP	C	TCGA-E8-A2JQ-01A-11D-A19J-08		406991	140806440	7	3685	18	2									
DOCK8	81704	broad.mit.edu	37	chr9	406992	406992	+	Silent	SNP	C	C	T													agcatgttcgatctgacttcCgagtaccgccagcagcactt					rs373733736		TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chr9:406992C>T	ENST00000453981.1	+	28	3565	c.3453C>T	c.(3451-3453)tcC>tcT	p.S1151S	DOCK8_ENST00000432829.2_Silent_p.S1083S|DOCK8_ENST00000382329.1_Silent_p.S618S|DOCK8_ENST00000469391.1_Silent_p.S1051S			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1151					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ATCTGACTTCCGAGTACCGCC	0.527													C|||	1	0.000199681	0	0.0014	5008	,	,		18042	0		0	False		,,,				2504	0					ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(3247-3249)tcC>tcT		dedicator of cytokinesis 8		C	,,	1,4405	2.1+/-5.4	0,1,2202	102	98	100		3153,3249,3453	-11.2	0.0	9		100	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	DOCK8	NM_001190458.1,NM_001193536.1,NM_203447.3	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	1051/2000,1083/2032,1151/2100	406992	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:406992C>T	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.3453C>T	9.37:g.406992C>T						DOCK8_ENST00000453981.1_Silent_p.S1151S|DOCK8_ENST00000469391.1_Silent_p.S1051S|DOCK8_ENST00000382329.1_Silent_p.S618S	p.S1083S	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	28	3565	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1151					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	ENST00000453981.1	37	c.3249C>T	CCDS6440.2																																																																																				0.527	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		7	120	0	0	0	1	0	7	120					T	406992	C	T	406992	2	4	174	1	0	0	0	0	0	0	0	1	4693	639	23	1		1	DOCK8	9	406992	Silent	SNP	C	TCGA-E8-A2JQ-01A-11D-A19J-08	1	406992	140806439	8	3686	18	2									
FAM78A	286336	broad.mit.edu	37	chr9	134136313	134136313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgaccagggcgctgggcgGgatgggctcattcttgctca	15	11	3	1			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chr9:134136313G>A	ENST00000372271.3	-	2	1115	c.748C>T	c.(748-750)Ccg>Tcg	p.P250S	FAM78A_ENST00000247295.4_5'UTR|FAM78A_ENST00000372269.3_Missense_Mutation_p.P247S	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	250										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		GCGCTGGGCGGGATGGGCTCA	0.687																																						ENST00000372271.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						c.(748-750)Ccg>Tcg		family with sequence similarity 78, member A							88	93	91					9																	134136313		2203	4300	6503	SO:0001583	missense	286336							g.chr9:134136313G>A	AK095423	CCDS6941.2	9q34	2008-02-05	2005-07-18	2005-07-18	ENSG00000126882	ENSG00000126882			25465	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 59"	C9orf59		11214971	Standard	NM_033387		Approved	FLJ00024	uc004cak.3	Q5JUQ0	OTTHUMG00000020821	ENST00000372271.3:c.748C>T	9.37:g.134136313G>A	ENSP00000361345:p.Pro250Ser					FAM78A_ENST00000247295.4_5'UTR|FAM78A_ENST00000372269.3_Missense_Mutation_p.P247S	p.P250S	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)	2	1115	-	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	250					Q86VQ9|Q9H7P4	Missense_Mutation	SNP	ENST00000372271.3	37	c.748C>T	CCDS6941.2	.	.	.	.	.	.	.	.	.	.	G	14.93	2.682780	0.47991	.	.	ENSG00000126882	ENST00000372269;ENST00000372271;ENST00000464831	D;D;D	0.95342	-3.68;-3.68;-3.68	4.63	4.63	0.57726	.	0.049204	0.85682	D	0.000000	D	0.93612	0.7960	M	0.75777	2.31	0.80722	D	1	B;P	0.48503	0.291;0.911	B;B	0.39840	0.072;0.311	D	0.94848	0.8011	10	0.87932	D	0	-26.4943	16.8258	0.85930	0.0:0.0:1.0:0.0	.	250;247	Q5JUQ0;Q5JUQ2	FA78A_HUMAN;.	S	247;250;219	ENSP00000361343:P247S;ENSP00000361345:P250S;ENSP00000419959:P219S	ENSP00000361343:P247S	P	-	1	0	FAM78A	133126134	1.000000	0.71417	0.996000	0.52242	0.663000	0.39108	6.688000	0.74557	2.272000	0.75746	0.313000	0.20887	CCG		0.687	FAM78A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054720.1	NM_033387		6	116	0	0	0	1	0	6	116					A	134136313	G	A	134136313	3	1	174	1	0	0	0	0	1	0	0	0	5626	1232	43	2	107	2	FAM78A	9	134136313	Missense_Mutation	SNP	G	TCGA-E8-A2JQ-01A-11D-A19J-08	133729321	134136313	7077118	9	3687											
TUBB8	347688	broad.mit.edu	37	chr10	93798	93798	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgttgtagggctccaccacGgtgtccgacaccttgggcga	14	13	0	0	rs372550049		TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chr10:93798G>A	ENST00000309812.4	-	4	596	c.534C>T	c.(532-534)acC>acT	p.T178T	TUBB8_ENST00000447903.2_Silent_p.T106T|TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000332708.5_3'UTR	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	178					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GCTCCACCACGGTGTCCGACA	0.522													g|||	1	0.000199681	8e-04	0	5008	,	,		28480	0		0	False		,,,				2504	0				Pancreas(192;2041 3010 9013 18103)	ENST00000447903.2																			0				NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32						c.(316-318)acC>acT		tubulin, beta 8 class VIII							105	94	98					10																	93798		2203	4293	6496	SO:0001819	synonymous_variant	347688				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:93798G>A	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"Tubulins"	20773	protein-coding gene	gene with protein product	"class VIII beta-tubulin"						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.534C>T	10.37:g.93798G>A						TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000309812.4_Silent_p.T178T	p.T106T			Q3ZCM7	TBB8_HUMAN		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)	4	633	-		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)	178					Q5SQX9|Q8WZ78	Silent	SNP	ENST00000309812.4	37	c.318C>T	CCDS7051.1																																																																																				0.522	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		16	113	0	0	0	1	0	16	113					A	93798	G	A	93798	2	1	174	1	0	0	0	0	0	0	0	1	16758	1103	39	1		1	TUBB8	10	93798	Silent	SNP	G	TCGA-E8-A2JQ-01A-11D-A19J-08		93798	135440949	10	3688											
NDUFA9	4704	broad.mit.edu	37	chr12	4771757	4771757	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agccattatcgtaaagccgtCggacatctttggaagagagg	12	8	1	1			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chr12:4771757C>T	ENST00000266544.5	+	6	631	c.611C>T	c.(610-612)tCg>tTg	p.S204L	RP11-500M8.7_ENST00000536588.1_3'UTR	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	204					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|sodium ion transport (GO:0006814)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						GTAAAGCCGTCGGACATCTTT	0.388																																					Colon(75;996 1244 23946 25294 29232)	ENST00000266544.5																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(610-612)tCg>tTg		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	NADH(DB00157)						170	163	165					12																	4771757		2203	4300	6503	SO:0001583	missense	4704				mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr12:4771757C>T	AF050641	CCDS8532.1	12p13.3	2011-09-14	2002-08-29		ENSG00000139180	ENSG00000139180		"Mitochondrial respiratory chain complex / Complex I", "Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	7693	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 22E, member 1", "complex I 39kDa subunit"	603834	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 (39kD)"	NDUFS2L		8486360, 19027726	Standard	NM_005002		Approved	SDR22E1, CI-39k	uc001qnc.3	Q16795		ENST00000266544.5:c.611C>T	12.37:g.4771757C>T	ENSP00000266544:p.Ser204Leu						p.S204L	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN			6	631	+			204					Q14076|Q2NKX0	Missense_Mutation	SNP	ENST00000266544.5	37	c.611C>T	CCDS8532.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.717111	0.48622	.	.	ENSG00000139180	ENST00000266544	D	0.93906	-3.31	5.15	4.2	0.49525	NAD(P)-binding domain (1);	0.285278	0.40908	D	0.001000	D	0.96522	0.8865	H	0.96748	3.875	0.80722	D	1	P;P	0.52463	0.953;0.953	P;P	0.49829	0.623;0.623	D	0.97530	1.0079	10	0.72032	D	0.01	-13.715	14.3765	0.66881	0.0:0.851:0.149:0.0	.	204;204	A8K4V2;Q16795	.;NDUA9_HUMAN	L	204	ENSP00000266544:S204L	ENSP00000266544:S204L	S	+	2	0	NDUFA9	4642018	0.820000	0.29190	0.008000	0.14137	0.495000	0.33615	4.547000	0.60712	2.530000	0.85305	0.555000	0.69702	TCG		0.388	NDUFA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398900.2	NM_005002		7	127	0	0	0	1	0	7	127					T	4771757	C	T	4771757	3	4	174	1	0	0	0	0	1	0	0	0	10272	893	31	1	633	1	NDUFA9	12	4771757	Missense_Mutation	SNP	C	TCGA-E8-A2JQ-01A-11D-A19J-08		4771757	129080138	11	3689											
TCP11L2	255394	broad.mit.edu	37	chr12	106734726	106734726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattcaagctaatcttatagGtcaattttcaagcattgaag	7	6	4	1			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chr12:106734726G>A	ENST00000299045.3	+	9	1439	c.1265G>A	c.(1264-1266)gGt>gAt	p.G422D		NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	422										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						AATCTTATAGGTCAATTTTCA	0.373																																						ENST00000299045.3																			0				endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						c.(1264-1266)gGt>gAt		t-complex 11, testis-specific-like 2							181	176	178					12																	106734726		2203	4300	6503	SO:0001583	missense	255394							g.chr12:106734726G>A	BC033617	CCDS9104.1, CCDS66456.1	12q23.3	2014-08-12	2012-09-20		ENSG00000166046	ENSG00000166046			28627	protein-coding gene	gene with protein product			"t-complex 11 (mouse) like 2", "t-complex 11 (mouse)-like 2"				Standard	XM_005268769		Approved	MGC40368	uc001tln.3	Q8N4U5	OTTHUMG00000170087	ENST00000299045.3:c.1265G>A	12.37:g.106734726G>A	ENSP00000299045:p.Gly422Asp						p.G422D	NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN			9	1439	+			422					B2RA65|G3V1Y9	Missense_Mutation	SNP	ENST00000299045.3	37	c.1265G>A	CCDS9104.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.280184	0.80692	.	.	ENSG00000166046	ENST00000299045	T	0.12774	2.65	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.40815	0.1132	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.12116	-1.0560	10	0.36615	T	0.2	-0.0368	19.0691	0.93125	0.0:0.0:1.0:0.0	.	422	Q8N4U5	T11L2_HUMAN	D	422	ENSP00000299045:G422D	ENSP00000299045:G422D	G	+	2	0	TCP11L2	105258856	1.000000	0.71417	0.987000	0.45799	0.865000	0.49528	7.159000	0.77483	2.490000	0.84030	0.557000	0.71058	GGT		0.373	TCP11L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407206.1	NM_152772		9	126	0	0	0	1	0	9	126					A	106734726	G	A	106734726	3	1	174	1	0	0	0	0	1	0	0	0	15712	1261	44	2	1295	2	TCP11L2	12	106734726	Missense_Mutation	SNP	G	TCGA-E8-A2JQ-01A-11D-A19J-08	101962969	106734726	27117169	12	3690											
RASAL1	8437	broad.mit.edu	37	chr12	113553841	113553842	+	Missense_Mutation	DNP	GG	GG	AA													aggcgtaccttcactcgcagGgcacccaggttccccctgtc							TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chr12:113553841_113553842GG>AA	ENST00000261729.5	-	10	1061_1062	c.746_747CC>TT	c.(745-747)gCC>gTT	p.A249V	RASAL1_ENST00000548055.1_Missense_Mutation_p.A249V|RASAL1_ENST00000546530.1_Missense_Mutation_p.A249V|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Missense_Mutation_p.A249V			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	249					intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TCACTCGCAGGGCACCCAGGTT	0.579																																						ENST00000546530.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						c.(745-747)gcC>gcT|c.(745-747)gCc>gTc		RAS protein activator like 1 (GAP1 like)																																				SO:0001583	missense	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113553841G>A|g.chr12:113553842G>A	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"Pleckstrin homology (PH) domain containing"	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.746_747delinsAA	12.37:g.113553841_113553842delinsAA	ENSP00000261729:p.Ala249Val					RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Silent_p.A249A|RASAL1_ENST00000261729.5_Silent_p.A249A|RASAL1_ENST00000446861.3_Silent_p.A249A|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Missense_Mutation_p.A249V|RASAL1_ENST00000261729.5_Missense_Mutation_p.A249V|RASAL1_ENST00000446861.3_Missense_Mutation_p.A249V	p.A249A|p.A249V	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN			10	1032|1031	-			249					B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Silent|Missense_Mutation	SNP	ENST00000261729.5	37	c.747C>T|c.746C>T	CCDS9165.1																																																																																				0.579	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		4	58|57	0	0	0	1	0	4	57					AA	113553842	GG	AA	113553841	3	1	174	1	0	0	0	0	1	0	0	0	13063	1219	43	2	1719	2	RASAL1	12	113553841	Missense_Mutation	DNP	GG	TCGA-E8-A2JQ-01A-11D-A19J-08	6819115	113553841	20298054	13	3691											
CDK12	51755	broad.mit.edu	37	chr17	37686861	37686863	+	In_Frame_Del	DEL	TCC	TCC	-													agtaacccttccacagcatgTcctcctcacattcttccacc							TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chr17:37686861_37686863delTCC	ENST00000447079.4	+	14	3798_3800	c.3765_3767delTCC	c.(3763-3768)tgtcct>tgt	p.P1257del	CDK12_ENST00000430627.2_Intron	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1257					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CCACAGCATGTCCTCCTCACATT	0.498			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"Mis, N, F"	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(3763-3768)tgt>tg		cyclin-dependent kinase 12			,	0,4250		0,0,2125					,	5.9	1.0			120	3,8223		0,3,4110	no	coding,intron	CDK12	NM_016507.2,NM_015083.1	,	0,3,6235	A1A1,A1R,RR		0.0365,0.0,0.024	,	,		3,12473				SO:0001651	inframe_deletion	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37686861_37686863delTCC	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.3765_3767delTCC	17.37:g.37686864_37686866delTCC	ENSP00000398880:p.Pro1257del	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Intron	p.CP1255del	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			14	3798_3800	+			1255					A7E2B2|B4DYX4|B9EIQ6|O94978	In_Frame_Del	DEL	ENST00000447079.4	37	c.3765_3767delTCC	CCDS11337.1																																																																																				0.498	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		9	330						9	330	---	---	---	---	-	37686863	TCC	-	37686861	7	5	174	1	0	1	0	1	0	0	0	0	3128	1673	58	0	3819	0	CDK12	17	37686861	In_Frame_Del	DEL	TCC	TCGA-E8-A2JQ-01A-11D-A19J-08		37686861	43508349	14	3692											
FAM98C	147965	broad.mit.edu	37	chr19	38896057	38896057	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctgctcgctagatgcacccaGatgggtaagactgtgtgcga	13	10	0	3			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chr19:38896057G>C	ENST00000252530.5	+	5	648	c.629G>C	c.(628-630)aGa>aCa	p.R210T	FAM98C_ENST00000588262.1_Intron|FAM98C_ENST00000343358.7_Intron	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	210										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GATGCACCCAGATGGGTAAGA	0.572																																						ENST00000252530.5																			0				endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(628-630)aGa>aCa		family with sequence similarity 98, member C							86	86	86					19																	38896057		2135	4253	6388	SO:0001583	missense	147965							g.chr19:38896057G>C		CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.629G>C	19.37:g.38896057G>C	ENSP00000252530:p.Arg210Thr					FAM98C_ENST00000588262.1_Intron|FAM98C_ENST00000343358.7_Intron	p.R210T	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		5	648	+	all_cancers(60;3.95e-06)		210					A6NMW3|Q66K45	Missense_Mutation	SNP	ENST00000252530.5	37	c.629G>C	CCDS42562.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211272	0.58343	.	.	ENSG00000130244	ENST00000252530	T	0.42513	0.97	4.9	4.9	0.64082	.	0.144282	0.31246	N	0.007993	T	0.42653	0.1212	M	0.70595	2.14	0.80722	D	1	P	0.34934	0.476	B	0.33196	0.159	T	0.41893	-0.9483	10	0.39692	T	0.17	3.9306	13.6443	0.62272	0.0:0.0:1.0:0.0	.	210	Q17RN3	FA98C_HUMAN	T	210	ENSP00000252530:R210T	ENSP00000252530:R210T	R	+	2	0	FAM98C	43587897	0.813000	0.29090	1.000000	0.80357	0.954000	0.61252	0.776000	0.26704	2.269000	0.75478	0.558000	0.71614	AGA		0.572	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1	NM_174905		4	57	0	0	0	1	0	4	57					C	38896057	G	C	38896057	3	2	174	1	0	0	0	0	1	0	0	0	5658	942	33	4	647	4	FAM98C	19	38896057	Missense_Mutation	SNP	G	TCGA-E8-A2JQ-01A-11D-A19J-08		38896057	20232926	15	3693											
B3GNT8	593	broad.mit.edu	37	chr19	41931682	41931682	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcaaaggccagtgtagacGtcctcaaaggggaagggtgc	15	8	1	1	rs142140890	byFrequency	TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chr19:41931682G>A	ENST00000269980.2	+	0	2103				B3GNT8_ENST00000321702.2_Silent_p.D334D|B3GNT8_ENST00000601379.1_5'Flank|CTC-435M10.6_ENST00000598887.1_RNA	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide						branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						CAGTGTAGACGTCCTCAAAGG	0.692													G|||	2	0.000399361	0.0015	0	5008	,	,		16285	0		0	False		,,,				2504	0					ENST00000321702.2																			0				cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)	11						c.(1000-1002)gaC>gaT		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8		G		2,4402		0,2,2200	33	36	35		1002	-7.2	0.1	19	dbSNP_134	35	0,8596		0,0,4298	no	coding-synonymous	B3GNT8	NM_198540.2		0,2,6498	AA,AG,GG		0.0,0.0454,0.0154		334/398	41931682	2,12998	2202	4298	6500	SO:0001628	intergenic_variant	374907				poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity	g.chr19:41931682G>A	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"maple syrup urine disease"	608348	"branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)", "2-oxoisovalerate dehydrogenase (lipoamide)"	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128		19.37:g.41931682G>A						CTC-435M10.6_ENST00000598887.1_RNA	p.D334D	NM_198540.2	NP_940942.1	Q7Z7M8	B3GN8_HUMAN			3	1455	-			334					B4DP47|E7EW46|Q16034|Q16472	Silent	SNP	ENST00000269980.2	37	c.1002C>T	CCDS12581.1																																																																																				0.692	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	NM_000709		4	53	0	0	0	1	0	4	53					A	41931682	G	A	41931682	1	1	174	0	1	0	0	0	0	0	0	0	1263	1136	40	1		1	B3GNT8	19	41931682	IGR	SNP	G	TCGA-E8-A2JQ-01A-11D-A19J-08	3035625	41931682	17197301	16	3694											
FPR1	2357	broad.mit.edu	37	chr19	52249646	52249646	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgatgaaccggatgatgcctCtcaccgtcaacatggcaacg	10	12	2	3			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chr19:52249646C>G	ENST00000595042.1	-	3	743	c.602G>C	c.(601-603)aGa>aCa	p.R201T	FPR1_ENST00000304748.4_Missense_Mutation_p.R201T	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	201					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GATGATGCCTCTCACCGTCAA	0.507																																						ENST00000595042.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20						c.(601-603)aGa>aCa		formyl peptide receptor 1	Nedocromil(DB00716)						140	124	130					19																	52249646		2203	4300	6503	SO:0001583	missense	2357				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52249646C>G	M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"GPCR / Class A : Formyl peptide receptors"	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.602G>C	19.37:g.52249646C>G	ENSP00000471493:p.Arg201Thr					FPR1_ENST00000304748.4_Missense_Mutation_p.R201T	p.R201T	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	3	743	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	201					Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	ENST00000595042.1	37	c.602G>C	CCDS12839.1	.	.	.	.	.	.	.	.	.	.	.	2.143	-0.396372	0.04899	.	.	ENSG00000171051	ENST00000304748	T	0.37058	1.22	3.66	1.15	0.20763	GPCR, rhodopsin-like superfamily (1);	0.443316	0.18365	N	0.143451	T	0.24699	0.0599	L	0.39467	1.215	0.26505	N	0.974693	B	0.19073	0.033	B	0.25987	0.065	T	0.16217	-1.0410	10	0.21540	T	0.41	.	5.6428	0.17572	0.3913:0.4172:0.1915:0.0	.	201	P21462	FPR1_HUMAN	T	201	ENSP00000302707:R201T	ENSP00000302707:R201T	R	-	2	0	FPR1	56941458	0.136000	0.22515	0.598000	0.28837	0.090000	0.18270	0.898000	0.28404	0.769000	0.33313	0.655000	0.94253	AGA		0.507	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029		6	90	0	0	0	1	0	6	90					G	52249646	C	G	52249646	3	3	174	1	0	0	0	0	1	0	0	0	6038	913	32	4	454	4	FPR1	19	52249646	Missense_Mutation	SNP	C	TCGA-E8-A2JQ-01A-11D-A19J-08	10317964	52249646	6879337	17	3695											
PLCB4	5332	broad.mit.edu	37	chr20	9449316	9449316	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagaataaagcagaacgggAaaggtaagtctgagagtgtt	13	4	1	3			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chr20:9449316A>G	ENST00000378493.1	+	32	3326	c.3311A>G	c.(3310-3312)gAa>gGa	p.E1104G	PLCB4_ENST00000278655.4_Missense_Mutation_p.E1104G|PLCB4_ENST00000334005.3_Missense_Mutation_p.E1104G|PLCB4_ENST00000414679.2_Missense_Mutation_p.E1116G|PLCB4_ENST00000378473.3_Missense_Mutation_p.E1116G|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Missense_Mutation_p.E1104G			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1104					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GCAGAACGGGAAAGGTAAGTC	0.423																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(3310-3312)gAa>gGa		phospholipase C, beta 4							109	98	102					20																	9449316		2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9449316A>G		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.3311A>G	20.37:g.9449316A>G	ENSP00000367754:p.Glu1104Gly					PLCB4_ENST00000278655.4_Missense_Mutation_p.E1104G|PLCB4_ENST00000378473.3_Missense_Mutation_p.E1116G|PLCB4_ENST00000414679.2_Missense_Mutation_p.E1116G|PLCB4_ENST00000378493.1_Missense_Mutation_p.E1104G|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.E1104G	p.E1104G	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			32	3326	+			1104					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.3311A>G	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.721868	0.89298	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45;0.45	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.65112	0.2660	L	0.58101	1.795	0.80722	D	1	P;D;D;B	0.63880	0.907;0.993;0.982;0.081	P;P;P;B	0.56960	0.663;0.81;0.533;0.056	T	0.68345	-0.5433	10	0.72032	D	0.01	.	16.0539	0.80782	1.0:0.0:0.0:0.0	.	1116;951;1104;1104	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	G	1104;1116;1104;1104;1104;952	ENSP00000334105:E1104G;ENSP00000367734:E1116G;ENSP00000278655:E1104G;ENSP00000367754:E1104G;ENSP00000367762:E1104G;ENSP00000390616:E952G	ENSP00000278655:E1104G	E	+	2	0	PLCB4	9397316	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.564000	0.90726	2.193000	0.70182	0.533000	0.62120	GAA		0.423	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			16	52	0	0	0	1	0	16	52					G	9449316	A	G	9449316	3	3	174	1	0	0	0	0	1	0	0	0	12030	246	9	3	3477	3	PLCB4	20	9449316	Missense_Mutation	SNP	A	TCGA-E8-A2JQ-01A-11D-A19J-08		9449316	53576204	18	3696											
CHAF1B	8208	broad.mit.edu	37	chr21	37785504	37785504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcaaaagccccttgccgGggccttcggaggagaagacc	13	13	1	2			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chr21:37785504G>A	ENST00000314103.5	+	12	1535	c.1384G>A	c.(1384-1386)Ggg>Agg	p.G462R		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	462					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)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						CCCCTTGCCGGGGCCTTCGGA	0.627																																						ENST00000314103.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						c.(1384-1386)Ggg>Agg		chromatin assembly factor 1, subunit B (p60)							28	29	29					21																	37785504		2203	4300	6503	SO:0001583	missense	8208				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|cytoplasm	chromatin binding|histone binding|unfolded protein binding	g.chr21:37785504G>A	U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259		"WD repeat domain containing"	1911	protein-coding gene	gene with protein product	"M-phase phosphoprotein 7", "Chromatin assembly factor I, p60 subunit", "human chromatin assembly factor-I p60 subunit"	601245				7600578, 8792829	Standard	NM_005441		Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.1384G>A	21.37:g.37785504G>A	ENSP00000315700:p.Gly462Arg						p.G462R	NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN			12	1535	+			462					Q99548	Missense_Mutation	SNP	ENST00000314103.5	37	c.1384G>A	CCDS13644.1	.	.	.	.	.	.	.	.	.	.	G	2.892	-0.229445	0.06022	.	.	ENSG00000159259	ENST00000314103	T	0.41758	0.99	4.98	1.97	0.26223	.	1.292330	0.04923	N	0.455331	T	0.25568	0.0622	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19353	-1.0308	10	0.17369	T	0.5	-4.4581	3.4416	0.07465	0.0949:0.444:0.2564:0.2047	.	462	Q13112	CAF1B_HUMAN	R	462	ENSP00000315700:G462R	ENSP00000315700:G462R	G	+	1	0	CHAF1B	36707374	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	0.120000	0.15647	0.469000	0.27268	0.558000	0.71614	GGG		0.627	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194616.2	NM_005441		4	31	0	0	0	1	0	4	31					A	37785504	G	A	37785504	3	1	174	1	0	0	0	0	1	0	0	0	3312	1232	43	2	1426	2	CHAF1B	21	37785504	Missense_Mutation	SNP	G	TCGA-E8-A2JQ-01A-11D-A19J-08		37785504	10344391	19	3697											
TLR8	51311	broad.mit.edu	37	chrX	12940129	12940129	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttacagcattctcagtatttGaggctacggcagcggatctg	11	9	2	1			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chrX:12940129G>C	ENST00000218032.6	+	2	3057	c.2970G>C	c.(2968-2970)ttG>ttC	p.L990F	TLR8_ENST00000311912.5_Missense_Mutation_p.L1008F	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	990	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	CTCAGTATTTGAGGCTACGGC	0.463																																						ENST00000218032.6																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(2968-2970)ttG>ttC		toll-like receptor 8							102	97	99					X																	12940129		2203	4300	6503	SO:0001583	missense	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12940129G>C	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"CD molecules"	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.2970G>C	X.37:g.12940129G>C	ENSP00000218032:p.Leu990Phe					TLR8_ENST00000311912.5_Missense_Mutation_p.L1008F	p.L990F	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN			2	3057	+			990			TIR.		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	c.2970G>C	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.272316	0.40194	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.08807	3.05;3.05	5.7	4.83	0.62350	Toll/interleukin-1 receptor homology (TIR) domain (3);	0.000000	0.30989	N	0.008462	T	0.22666	0.0547	M	0.75615	2.305	0.39518	D	0.968477	D;D	0.76494	0.999;0.999	D;D	0.76575	0.988;0.988	T	0.04191	-1.0970	10	0.54805	T	0.06	.	3.8555	0.08973	0.0778:0.2524:0.4398:0.23	.	990;1008	Q9NR97;D1CS70	TLR8_HUMAN;.	F	990;1008	ENSP00000218032:L990F;ENSP00000312082:L1008F	ENSP00000218032:L990F	L	+	3	2	TLR8	12850050	0.762000	0.28451	0.925000	0.36789	0.788000	0.44548	0.775000	0.26689	1.170000	0.42753	0.600000	0.82982	TTG		0.463	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		6	113	0	0	0	1	0	6	113					C	12940129	G	C	12940129	3	2	174	1	0	0	0	0	1	0	0	0	15954	1281	45	4	2976	4	TLR8	23	12940129	Missense_Mutation	SNP	G	TCGA-E8-A2JQ-01A-11D-A19J-08		12940129	142330431	20	3698											
PPP1R3F	89801	broad.mit.edu	37	chrX	49127085	49127085	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccagctgccctttgctgaGggcgcgggcgatggggcgcg	18	12	0	1			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chrX:49127085G>A	ENST00000055335.6	+	1	769	c.753G>A	c.(751-753)gaG>gaA	p.E251E	PPP1R3F_ENST00000466508.1_5'UTR|LL0XNC01-7P3.1_ENST00000602455.1_lincRNA|PPP1R3F_ENST00000438316.1_5'UTR|PPP1R3F_ENST00000495799.1_Intron	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	251	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CCTTTGCTGAGGGCGCGGGCG	0.701																																						ENST00000055335.6																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27						c.(751-753)gaG>gaA		protein phosphatase 1, regulatory subunit 3F							14	13	13					X																	49127085		2195	4274	6469	SO:0001819	synonymous_variant	89801					integral to membrane		g.chrX:49127085G>A		CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14944	protein-coding gene	gene with protein product			"protein phosphatase 1, regulatory (inhibitor) subunit 3F"			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.753G>A	X.37:g.49127085G>A						PPP1R3F_ENST00000495799.1_Intron|PPP1R3F_ENST00000466508.1_5'UTR|PPP1R3F_ENST00000438316.1_5'UTR	p.E251E	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN			1	769	+	Ovarian(276;0.236)		251			CBM21.		A2VDJ8|B3KPW2|E9PCM3	Silent	SNP	ENST00000055335.6	37	c.753G>A	CCDS35254.1	.	.	.	.	.	.	.	.	.	.	g	9.672	1.146873	0.21288	.	.	ENSG00000049769	ENST00000471261	.	.	.	4.37	3.46	0.39613	.	.	.	.	.	T	0.48589	0.1508	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43669	-0.9377	4	.	.	.	-12.8282	4.9315	0.13919	0.116:0.0:0.6735:0.2105	.	.	.	.	K	1	.	.	R	+	2	0	PPP1R3F	49014029	0.627000	0.27129	1.000000	0.80357	0.993000	0.82548	1.451000	0.35145	1.741000	0.51731	0.509000	0.49947	AGG		0.701	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215		3	28	0	0	0	1	0	3	28					A	49127085	G	A	49127085	2	1	174	1	0	0	0	0	0	0	0	1	12375	991	35	2		2	PPP1R3F	23	49127085	Silent	SNP	G	TCGA-E8-A2JQ-01A-11D-A19J-08	36186956	49127085	106143475	21	3699											
RLIM	51132	broad.mit.edu	37	chrX	73812337	73812337	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggcccagatatttgctgcctCaatgtcacatggtgccgggt	12	11	2	1			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chrX:73812337C>G	ENST00000332687.6	-	4	1031	c.813G>C	c.(811-813)ttG>ttC	p.L271F	RLIM_ENST00000349225.2_Missense_Mutation_p.L271F	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	271					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)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTGCTGCCTCAATGTCACAT	0.453																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(811-813)ttG>ttC		ring finger protein, LIM domain interacting							88	81	83					X																	73812337		2203	4300	6503	SO:0001583	missense	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73812337C>G	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"RING-type (C3HC4) zinc fingers"	13429	protein-coding gene	gene with protein product	"ring zinc finger protein NY-REN-43antigen", "LIM domain interacting ring finger protein"	300379	"ring finger protein 12"	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.813G>C	X.37:g.73812337C>G	ENSP00000328059:p.Leu271Phe					RLIM_ENST00000349225.2_Missense_Mutation_p.L271F	p.L271F	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1031	-			271					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	c.813G>C	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	C	7.828	0.719204	0.15372	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.08896	3.04;3.04	5.79	3.08	0.35506	.	0.229654	0.38005	N	0.001850	T	0.07143	0.0181	L	0.55481	1.735	0.35268	D	0.780171	P	0.45902	0.868	B	0.39876	0.312	T	0.42413	-0.9453	10	0.16896	T	0.51	-0.0788	4.8873	0.13710	0.0:0.4691:0.1438:0.3871	.	271	Q9NVW2	RNF12_HUMAN	F	271	ENSP00000328059:L271F;ENSP00000253571:L271F	ENSP00000328059:L271F	L	-	3	2	RLIM	73729062	0.937000	0.31787	0.993000	0.49108	0.986000	0.74619	-0.003000	0.12901	0.218000	0.20820	0.600000	0.82982	TTG		0.453	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		8	117	0	0	0	1	0	8	117					G	73812337	C	G	73812337	3	3	174	1	0	0	0	0	1	0	0	0	13390	825	29	4	1065	4	RLIM	23	73812337	Missense_Mutation	SNP	C	TCGA-E8-A2JQ-01A-11D-A19J-08	24685252	73812337	81458223	22	3700											
ODZ1	10178	broad.mit.edu	37	chrX	123630900	123630900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actaacggagtttcccgaggGaaatattctccttacaaaat	7	9	1	0			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chrX:123630900G>A	ENST00000371130.3	-	20	3724	c.3661C>T	c.(3661-3663)Ccc>Tcc	p.P1221S	TENM1_ENST00000422452.2_Missense_Mutation_p.P1221S|TENM1_ENST00000461429.1_5'UTR	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1221					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TTTCCCGAGGGAAATATTCTC	0.398																																						ENST00000422452.2																			0											c.(3661-3663)Ccc>Tcc		teneurin transmembrane protein 1							67	68	68					X																	123630900		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123630900G>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.3661C>T	X.37:g.123630900G>A	ENSP00000360171:p.Pro1221Ser					TENM1_ENST00000371130.3_Missense_Mutation_p.P1221S|TENM1_ENST00000461429.1_5'UTR	p.P1221S	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					20	3724	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.3661C>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790313	0.50102	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.90955	-2.76;-2.17	5.67	5.67	0.87782	Six-bladed beta-propeller, TolB-like (1);	0.059445	0.64402	D	0.000002	D	0.88720	0.6513	L	0.45051	1.395	0.80722	D	1	P;B;P	0.35745	0.518;0.376;0.485	B;B;B	0.36666	0.129;0.073;0.23	D	0.88867	0.3330	10	0.66056	D	0.02	.	18.7655	0.91871	0.0:0.0:1.0:0.0	.	1220;1221;1221	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	S	1221	ENSP00000360171:P1221S;ENSP00000403954:P1221S	ENSP00000360171:P1221S	P	-	1	0	ODZ1	123458581	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.392000	0.73213	2.376000	0.81061	0.600000	0.82982	CCC		0.398	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		4	60	0	0	0	1	0	4	60					A	123630900	G	A	123630900	3	1	174	1	0	0	0	0	1	0	0	0	10834	1174	41	2	4589	2	ODZ1	23	123630900	Missense_Mutation	SNP	G	TCGA-E8-A2JQ-01A-11D-A19J-08	49818563	123630900	31639660	23	3701											
NEU2	4759	broad.mit.edu	37	chr2	233899575	233899575	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcaacccgcgacctccagcCcctgaggcctggtcagagcc	10	19	2	2			TCGA-E8-A3X7-01A-11D-A22Z-08	TCGA-E8-A3X7-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957	8ad45a93-7b81-453a-ba26-59dddfe5e77c	g.chr2:233899575C>A	ENST00000233840.3	+	2	951	c.951C>A	c.(949-951)gcC>gcA	p.A317A		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	317					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	GACCTCCAGCCCCTGAGGCCT	0.677																																						ENST00000233840.3																			0				endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18						c.(949-951)gcC>gcA		sialidase 2 (cytosolic sialidase)							66	73	71					2																	233899575		2203	4300	6503	SO:0001819	synonymous_variant	4759						exo-alpha-sialidase activity	g.chr2:233899575C>A	Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"N-acetyl-alpha-neuraminidase 2"	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.951C>A	2.37:g.233899575C>A							p.A317A	NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	2	951	+		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)	317					Q3KNW4|Q6NTB4	Silent	SNP	ENST00000233840.3	37	c.951C>A	CCDS2501.1																																																																																				0.677	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2	NM_005383		59	90	1	0	1.69475e-38	1	1.75994e-38	59	90					A	233899575	C	A	233899575	2	1	175	1	0	0	0	0	0	0	0	1	10342	610	22	4		4	NEU2	2	233899575	Silent	SNP	C	TCGA-E8-A3X7-01A-11D-A22Z-08		233899575	9299798	1	3702											
SLC6A11	6538	broad.mit.edu	37	chr3	10979978	10979978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcacagatctgaaaatgCggggcaagcttggggtgagc	15	9	1	3	rs142712079	byFrequency	TCGA-E8-A3X7-01A-11D-A22Z-08	TCGA-E8-A3X7-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957	8ad45a93-7b81-453a-ba26-59dddfe5e77c	g.chr3:10979978C>T	ENST00000254488.2	+	14	1855	c.1789C>T	c.(1789-1791)Cgg>Tgg	p.R597W		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	597					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)	p.R597W(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	TCTGAAAATGCGGGGCAAGCT	0.547													C|||	7	0.00139776	0	0	5008	,	,		18261	0.0069		0	False		,,,				2504	0					ENST00000254488.2																			1	Substitution - Missense(1)	p.R597W(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35						c.(1789-1791)Cgg>Tgg		solute carrier family 6 (neurotransmitter transporter), member 11		C	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	117	108	111		1789	1.5	1.0	3	dbSNP_134	111	0,8600		0,0,4300	yes	missense	SLC6A11	NM_014229.1	101	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	597/633	10979978	2,13004	2203	4300	6503	SO:0001583	missense	6538				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:10979978C>T	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"Solute carriers"	11044	protein-coding gene	gene with protein product	"GABA transporter 3"	607952	"solute carrier family 6 (neurotransmitter transporter, GABA), member 11"			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.1789C>T	3.37:g.10979978C>T	ENSP00000254488:p.Arg597Trp						p.R597W	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.229)	14	1855	+			597					B2R6U6|Q8IYC9	Missense_Mutation	SNP	ENST00000254488.2	37	c.1789C>T	CCDS2602.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	C	14.81	2.647594	0.47258	4.54E-4	0.0	ENSG00000132164	ENST00000254488	T	0.74842	-0.88	4.81	1.53	0.23141	.	0.361639	0.26542	N	0.023798	T	0.53997	0.1831	L	0.29908	0.895	0.80722	D	1	B	0.18863	0.031	B	0.12837	0.008	T	0.56189	-0.8020	10	0.51188	T	0.08	.	13.7065	0.62644	0.5834:0.4166:0.0:0.0	.	597	P48066	S6A11_HUMAN	W	597	ENSP00000254488:R597W	ENSP00000254488:R597W	R	+	1	2	SLC6A11	10954978	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.124000	0.42006	0.418000	0.25898	0.655000	0.94253	CGG		0.547	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229		4	93	0	0	0	1	0	4	93					T	10979978	C	T	10979978	3	4	175	1	0	0	0	0	1	0	0	0	14674	759	27	1	1843	1	SLC6A11	3	10979978	Missense_Mutation	SNP	C	TCGA-E8-A3X7-01A-11D-A22Z-08		10979978	187042452	2	3703											
NIPBL	25836	broad.mit.edu	37	chr5	36971021	36971021	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtggtttgagaaacatAcatgataataaagtttctgg	11	4	1	2			TCGA-E8-A3X7-01A-11D-A22Z-08	TCGA-E8-A3X7-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957	8ad45a93-7b81-453a-ba26-59dddfe5e77c	g.chr5:36971021A>G	ENST00000282516.8	+	7	1153	c.654A>G	c.(652-654)atA>atG	p.I218M	NIPBL_ENST00000448238.2_Missense_Mutation_p.I218M|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	218					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TGAGAAACATACATGATAATA	0.363																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(652-654)atA>atG		Nipped-B homolog (Drosophila)							109	100	103					5																	36971021		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36971021A>G	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.654A>G	5.37:g.36971021A>G	ENSP00000282516:p.Ile218Met					NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.I218M	p.I218M	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		7	1153	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		218					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.654A>G	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	A	13.47	2.246995	0.39697	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.94793	-3.52;-3.52	5.58	0.27	0.15635	.	0.228496	0.42548	N	0.000689	D	0.86994	0.6067	N	0.24115	0.695	0.29275	N	0.870421	B;B	0.06786	0.001;0.001	B;B	0.10450	0.002;0.005	T	0.78036	-0.2361	10	0.44086	T	0.13	.	7.2005	0.25879	0.5126:0.3513:0.1361:0.0	.	218;218	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	M	218	ENSP00000282516:I218M;ENSP00000406266:I218M	ENSP00000282516:I218M	I	+	3	3	NIPBL	37006778	0.948000	0.32251	1.000000	0.80357	0.999000	0.98932	0.160000	0.16462	0.108000	0.17862	0.533000	0.62120	ATA		0.363	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		8	22	0	0	0	1	0	8	22					G	36971021	A	G	36971021	3	3	175	1	0	0	0	0	1	0	0	0	10428	381	14	3	676	3	NIPBL	5	36971021	Missense_Mutation	SNP	A	TCGA-E8-A3X7-01A-11D-A22Z-08		36971021	143944239	3	3704											
TMEM184A	202915	broad.mit.edu	37	chr7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC													ctcccgccggagccgccgctINSggggtgggtgccgggcctgg					rs3837151|rs3779607	byFrequency	TCGA-E8-A3X7-01A-11D-A22Z-08	TCGA-E8-A3X7-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957	8ad45a93-7b81-453a-ba26-59dddfe5e77c	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)cccagc>cccGGCagc	p.389_390PS>PGS	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389			S -> G (in dbSNP:rs3779607). {ECO:0000269|PubMed:15489334}.		germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(1165-1170)ccgcgg>ccGGCgcgg		transmembrane protein 184A				1912,2170		535,842,664						-3.6	0.0		dbSNP_132	17	3872,4214		1028,1816,1199	no	coding	TMEM184A	NM_001097620.1		1563,2658,1863	A1A1,A1R,RR		47.8852,46.8398,47.5345				5784,6384				SO:0001652	inframe_insertion	202915					integral to membrane		g.chr7:1586662_1586663insGCC		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1167_1168insGGC	7.37:g.1586662_1586663insGCC	ENSP00000297477:p.Pro389_Ser390insGly						p.389_390PR>PAR	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	9	1483_1484	-		Ovarian(82;0.0253)	389					Q8TBQ6	In_Frame_Ins	INS	ENST00000297477.5	37	c.1167_1168insGGC	CCDS43537.1																																																																																				0.703	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		7	47						7	47	---	---	---	---	GCC	1586663	-	GCC	1586662	7	5	175	1	0	1	1	0	0	0	0	0	16101	1580	55	0	77	0	TMEM184A	7	1586662	In_Frame_Ins	INS	-	TCGA-E8-A3X7-01A-11D-A22Z-08		1586662	157552001	4	3705											
SPDYE3	441272	broad.mit.edu	37	chr7	99913460	99913460	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacaaagatctgagggtgtcAgacaaggtaaggttgttctc	13	6	3	3	rs201349757		TCGA-E8-A3X7-01A-11D-A22Z-08	TCGA-E8-A3X7-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957	8ad45a93-7b81-453a-ba26-59dddfe5e77c	g.chr7:99913460A>G	ENST00000332397.6	+	7	1438	c.1254A>G	c.(1252-1254)tcA>tcG	p.S418S	SPDYE3_ENST00000437326.2_Silent_p.S41S	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	418								p.S418S(11)		endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						TGAGGGTGTCAGACAAGGTAA	0.522																																						ENST00000332397.6																			11	Substitution - coding silent(11)	p.S418S(11)	endometrium(10)|prostate(1)	endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						c.(1252-1254)tcA>tcG		speedy/RINGO cell cycle regulator family member E3							253	273	266					7																	99913460		2091	3956	6047	SO:0001819	synonymous_variant	441272							g.chr7:99913460A>G	BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"Speedy homologs"	35462	protein-coding gene	gene with protein product			"speedy homolog E3 (Xenopus laevis)"				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1254A>G	7.37:g.99913460A>G						SPDYE3_ENST00000437326.2_Silent_p.S41S	p.S418S	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN			7	1438	+			418					Q495Y9|Q6PHC4	Silent	SNP	ENST00000332397.6	37	c.1254A>G	CCDS47658.2																																																																																				0.522	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2	NM_001004351		5	220	0	0	0	1	0	5	220					G	99913460	A	G	99913460	2	3	175	1	0	0	0	0	0	0	0	1	15029	175	7	3		3	SPDYE3	7	99913460	Silent	SNP	A	TCGA-E8-A3X7-01A-11D-A22Z-08	98326798	99913460	59225203	5	3706											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E8-A3X7-01A-11D-A22Z-08	TCGA-E8-A3X7-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957	8ad45a93-7b81-453a-ba26-59dddfe5e77c	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		12	49	0	0	0	1	0	12	49					T	140453136	A	T	140453136	3	4	175	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E8-A3X7-01A-11D-A22Z-08	40539676	140453136	18685527	6	3707											
PTPRD	5789	broad.mit.edu	37	chr9	8331609	8331609	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggactgaaatgggtccatctTggccaaactgttcttttgtt	10	8	2	1			TCGA-E8-A3X7-01A-11D-A22Z-08	TCGA-E8-A3X7-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957	8ad45a93-7b81-453a-ba26-59dddfe5e77c	g.chr9:8331609T>C	ENST00000381196.4	-	41	6050	c.5507A>G	c.(5506-5508)cAa>cGa	p.Q1836R	PTPRD_ENST00000397617.3_Missense_Mutation_p.Q1429R|PTPRD_ENST00000355233.5_Missense_Mutation_p.Q1430R|PTPRD_ENST00000540109.1_Missense_Mutation_p.Q1836R|PTPRD_ENST00000356435.5_Missense_Mutation_p.Q1836R|PTPRD_ENST00000397611.3_Missense_Mutation_p.Q1426R|PTPRD_ENST00000537002.1_Missense_Mutation_p.Q1426R|PTPRD_ENST00000397606.3_Missense_Mutation_p.Q1429R|PTPRD_ENST00000360074.4_Missense_Mutation_p.Q1823R|PTPRD_ENST00000358503.5_Missense_Mutation_p.Q1814R|PTPRD_ENST00000486161.1_Missense_Mutation_p.Q1429R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1836	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGGTCCATCTTGGCCAAACTG	0.423										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(5506-5508)cAa>cGa		protein tyrosine phosphatase, receptor type, D							169	160	163					9																	8331609		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8331609T>C	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.5507A>G	9.37:g.8331609T>C	ENSP00000370593:p.Gln1836Arg	TSP Lung(15;0.13)				PTPRD_ENST00000358503.5_Missense_Mutation_p.Q1814R|PTPRD_ENST00000397611.3_Missense_Mutation_p.Q1426R|PTPRD_ENST00000537002.1_Missense_Mutation_p.Q1426R|PTPRD_ENST00000360074.4_Missense_Mutation_p.Q1823R|PTPRD_ENST00000397606.3_Missense_Mutation_p.Q1429R|PTPRD_ENST00000540109.1_Missense_Mutation_p.Q1836R|PTPRD_ENST00000397617.3_Missense_Mutation_p.Q1429R|PTPRD_ENST00000355233.5_Missense_Mutation_p.Q1430R|PTPRD_ENST00000486161.1_Missense_Mutation_p.Q1429R|PTPRD_ENST00000356435.5_Missense_Mutation_p.Q1836R	p.Q1836R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	41	6050	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1836			Tyrosine-protein phosphatase 2.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.5507A>G	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	T	30	5.052207	0.93793	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	D;D;D;D;D;D;D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7	5.72	5.72	0.89469	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.84942	0.5584	N	0.22421	0.69	0.80722	D	1	P;P;P;P;D;P;D;D;D	0.71674	0.9;0.9;0.9;0.9;0.987;0.878;0.998;0.997;0.995	P;P;P;P;P;P;D;D;D	0.76575	0.869;0.869;0.869;0.869;0.827;0.793;0.964;0.988;0.97	D	0.84117	0.0404	9	.	.	.	.	16.2962	0.82776	0.0:0.0:0.0:1.0	.	1429;1420;1429;1430;1426;1426;1823;1836;1836	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	R	1836;1836;1823;1814;1430;1429;1426;1426;1307;1836;1429;1429	ENSP00000370593:Q1836R;ENSP00000348812:Q1836R;ENSP00000353187:Q1823R;ENSP00000351293:Q1814R;ENSP00000347373:Q1430R;ENSP00000380741:Q1429R;ENSP00000380735:Q1426R;ENSP00000440515:Q1426R;ENSP00000438164:Q1836R;ENSP00000417093:Q1429R;ENSP00000380731:Q1429R	.	Q	-	2	0	PTPRD	8321609	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.641000	0.83368	2.304000	0.77564	0.528000	0.53228	CAA		0.423	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			33	55	0	0	0	1	0	33	55					C	8331609	T	C	8331609	3	2	175	1	0	0	0	0	1	0	0	0	12799	1812	63	3	243	3	PTPRD	9	8331609	Missense_Mutation	SNP	T	TCGA-E8-A3X7-01A-11D-A22Z-08		8331609	132881822	7	3708											
SLC44A1	23446	broad.mit.edu	37	chr9	108145604	108145604	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acaaaatacaatgatgggagCcctggcagagaattctatat	9	7	1	2			TCGA-E8-A3X7-01A-11D-A22Z-08	TCGA-E8-A3X7-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957	8ad45a93-7b81-453a-ba26-59dddfe5e77c	g.chr9:108145604C>G	ENST00000374720.3	+	14	2080	c.1833C>G	c.(1831-1833)agC>agG	p.S611R	SLC44A1_ENST00000374723.1_Missense_Mutation_p.S611R|SLC44A1_ENST00000374724.1_Missense_Mutation_p.S611R|SLC44A1_ENST00000343170.7_Missense_Mutation_p.S403R	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	611					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	ATGATGGGAGCCCTGGCAGAG	0.338																																						ENST00000374720.3																			0				breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(1831-1833)agC>agG		solute carrier family 44 (choline transporter), member 1	Choline(DB00122)						123	124	124					9																	108145604		2203	4300	6503	SO:0001583	missense	23446					integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	g.chr9:108145604C>G	AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"CD molecules", "Solute carriers"	18798	protein-coding gene	gene with protein product		606105	"CDW92 antigen"	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.1833C>G	9.37:g.108145604C>G	ENSP00000363852:p.Ser611Arg					SLC44A1_ENST00000374723.1_Missense_Mutation_p.S611R|SLC44A1_ENST00000374724.1_Missense_Mutation_p.S611R|SLC44A1_ENST00000343170.7_Missense_Mutation_p.S403R	p.S611R	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN			14	2080	+			611					A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Missense_Mutation	SNP	ENST00000374720.3	37	c.1833C>G	CCDS6763.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.241773	0.58995	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724;ENST00000343170	T;T;T;T	0.20881	2.87;2.88;2.87;2.04	5.11	1.09	0.20402	.	0.038774	0.85682	D	0.000000	T	0.40015	0.1100	M	0.71581	2.175	0.45390	D	0.998375	D;D;D	0.65815	0.995;0.995;0.991	D;D;P	0.71184	0.972;0.962;0.906	T	0.14587	-1.0467	10	0.49607	T	0.09	-6.428	10.8494	0.46761	0.0:0.7257:0.0:0.2743	.	611;611;611	Q8WWI5-3;Q8WWI5-2;Q8WWI5	.;.;CTL1_HUMAN	R	611;611;611;403	ENSP00000363855:S611R;ENSP00000363852:S611R;ENSP00000363856:S611R;ENSP00000341856:S403R	ENSP00000341856:S403R	S	+	3	2	SLC44A1	107185425	0.997000	0.39634	1.000000	0.80357	0.985000	0.73830	0.543000	0.23237	0.264000	0.21851	-0.150000	0.13652	AGC		0.338	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	NM_080546		39	56	0	0	0	1	0	39	56					G	108145604	C	G	108145604	3	3	175	1	0	0	0	0	1	0	0	0	14635	738	26	4	1887	4	SLC44A1	9	108145604	Missense_Mutation	SNP	C	TCGA-E8-A3X7-01A-11D-A22Z-08	99813995	108145604	33067827	8	3709											
FRMPD2	143162	broad.mit.edu	37	chr10	49420143	49420143	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacgtgaaagtatggcttacTctccacctgctggaagtaag	10	9	1	1			TCGA-E8-A3X7-01A-11D-A22Z-08	TCGA-E8-A3X7-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957	8ad45a93-7b81-453a-ba26-59dddfe5e77c	g.chr10:49420143T>C	ENST00000374201.3	-	13	1767	c.1465A>G	c.(1465-1467)Agt>Ggt	p.S489G	FRMPD2_ENST00000407470.4_Missense_Mutation_p.S457G|FRMPD2_ENST00000305531.3_Missense_Mutation_p.S464G	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	489	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TATGGCTTACTCTCCACCTGC	0.502																																						ENST00000374201.3																			0				NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66						c.(1465-1467)Agt>Ggt		FERM and PDZ domain containing 2							92	72	79					10																	49420143		2203	4300	6503	SO:0001583	missense	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49420143T>C	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"PDZ domain containing 5C"	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.1465A>G	10.37:g.49420143T>C	ENSP00000363317:p.Ser489Gly					FRMPD2_ENST00000305531.3_Missense_Mutation_p.S464G|FRMPD2_ENST00000407470.4_Missense_Mutation_p.S457G	p.S489G	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	13	1767	-			489			FERM.		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	c.1465A>G	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	T	5.209	0.224002	0.09863	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.79749	-1.3;-1.3;-1.3	5.28	1.71	0.24356	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	.	.	.	.	T	0.51568	0.1682	N	0.03194	-0.395	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.43589	-0.9382	9	0.02654	T	1	.	5.7614	0.18203	0.0:0.5187:0.0:0.4813	.	464;489;457	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	G	489;464;457	ENSP00000363317:S489G;ENSP00000307079:S464G;ENSP00000384339:S457G	ENSP00000307079:S464G	S	-	1	0	FRMPD2	49090149	0.051000	0.20477	0.000000	0.03702	0.574000	0.36063	1.555000	0.36277	0.352000	0.24053	0.459000	0.35465	AGT		0.502	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		19	26	0	0	0	1	0	19	26					C	49420143	T	C	49420143	3	2	175	1	0	0	0	0	1	0	0	0	6058	1551	54	3	2532	3	FRMPD2	10	49420143	Missense_Mutation	SNP	T	TCGA-E8-A3X7-01A-11D-A22Z-08		49420143	86114604	9	3710											
EMG1	10436	broad.mit.edu	37	chr12	7080212	7080213	+	Splice_Site	INS	-	-	C													acaagatcggaggccgtagtINSttattgtggtgctggaaggg					rs11428482|rs374779752|rs17857448		TCGA-E8-A3X7-01A-11D-A22Z-08	TCGA-E8-A3X7-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957	8ad45a93-7b81-453a-ba26-59dddfe5e77c	g.chr12:7080212_7080213insC	ENST00000261406.6	+	2	267_268	c.124_125insC	c.(124-126)ttt>tCtt	p.F42fs	PHB2_ENST00000535923.1_5'Flank|PHB2_ENST00000546111.1_5'Flank|PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000542912.1_5'Flank|PHB2_ENST00000544134.1_5'Flank|EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000440277.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		GAGGCCGTAGTTTATTGTGGTG	0.569																																						ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3746,4		1873,0,2						5.4	1.0		dbSNP_120	28	7902,2		3951,0,1	no	frameshift	EMG1	NM_006331.7		5824,0,3	A1A1,A1R,RR		0.0253,0.1067,0.0515				11648,6				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080212_7080213insC	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"EMG1 nucleolar protein homolog (S. cerevisiae)"			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->C	12.37:g.7080212_7080213insC						U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA				Q92979	NEP1_HUMAN			0	157_158	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Frame_Shift_Ins	22	5						22	5	---	---	---	---	C	7080213	-	C	7080212	8	5	175	1	0	1	1	0	0	0	1	0	5090	1722	60	0	128	0	EMG1	12	7080212	Splice_Site	INS	-	TCGA-E8-A3X7-01A-11D-A22Z-08		7080212	126771683	10	3711											
HECTD1	25831	broad.mit.edu	37	chr14	31602596	31602596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctctgccgtctaagattaGcttctgcttctttagctgct	8	11	4	1			TCGA-E8-A3X7-01A-11D-A22Z-08	TCGA-E8-A3X7-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957	8ad45a93-7b81-453a-ba26-59dddfe5e77c	g.chr14:31602596G>A	ENST00000399332.1	-	24	4258	c.3770C>T	c.(3769-3771)gCt>gTt	p.A1257V	HECTD1_ENST00000553700.1_Missense_Mutation_p.A1257V	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1257					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TCTAAGATTAGCTTCTGCTTC	0.403																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(3769-3771)gCt>gTt		HECT domain containing E3 ubiquitin protein ligase 1							100	94	96					14																	31602596		1866	4112	5978	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31602596G>A	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.3770C>T	14.37:g.31602596G>A	ENSP00000382269:p.Ala1257Val					HECTD1_ENST00000553700.1_Missense_Mutation_p.A1257V	p.A1257V	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	24	4258	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		1257					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.3770C>T	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	G	34	5.375643	0.95923	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	T;T;T	0.46451	0.87;0.87;1.41	5.76	5.76	0.90799	.	0.000000	0.64402	U	0.000001	T	0.65291	0.2677	M	0.69823	2.125	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.65443	0.932;0.935	T	0.66870	-0.5814	10	0.87932	D	0	-12.3025	19.9719	0.97287	0.0:0.0:1.0:0.0	.	1257;1257	D3DS86;Q9ULT8	.;HECD1_HUMAN	V	1257;1259;1257;731	ENSP00000450697:A1257V;ENSP00000382269:A1257V;ENSP00000451860:A731V	ENSP00000261312:A1259V	A	-	2	0	HECTD1	30672347	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	9.452000	0.97615	2.718000	0.92993	0.650000	0.86243	GCT		0.403	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			22	39	0	0	0	1	0	22	39					A	31602596	G	A	31602596	3	1	175	1	0	0	0	0	1	0	0	0	7039	971	34	2	4142	2	HECTD1	14	31602596	Missense_Mutation	SNP	G	TCGA-E8-A3X7-01A-11D-A22Z-08		31602596	75746944	11	3712											
AHNAK2	113146	broad.mit.edu	37	chr14	105413327	105413327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgacaccccgaatgacgGcatcttgaacttgggcattt	11	12	1	2			TCGA-E8-A3X7-01A-11D-A22Z-08	TCGA-E8-A3X7-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957	8ad45a93-7b81-453a-ba26-59dddfe5e77c	g.chr14:105413327G>A	ENST00000333244.5	-	7	8580	c.8461C>T	c.(8461-8463)Ccg>Tcg	p.P2821S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2821						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)			CCGAATGACGGCATCTTGAAC	0.602																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(8461-8463)Ccg>Tcg		AHNAK nucleoprotein 2							253	273	266					14																	105413327		1970	4154	6124	SO:0001583	missense	113146					nucleus		g.chr14:105413327G>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.8461C>T	14.37:g.105413327G>A	ENSP00000353114:p.Pro2821Ser					AHNAK2_ENST00000557457.1_Intron	p.P2821S	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	8580	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2821					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.8461C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	13.49	2.251288	0.39797	.	.	ENSG00000185567	ENST00000333244	T	0.01821	4.62	3.64	3.64	0.41730	.	.	.	.	.	T	0.14570	0.0352	M	0.92317	3.295	0.26144	N	0.980234	D	0.89917	1.0	D	0.74674	0.984	T	0.04229	-1.0967	9	0.72032	D	0.01	.	14.9763	0.71277	0.0:0.0:1.0:0.0	.	2821	Q8IVF2	AHNK2_HUMAN	S	2821	ENSP00000353114:P2821S	ENSP00000353114:P2821S	P	-	1	0	AHNAK2	104484372	1.000000	0.71417	0.953000	0.39169	0.028000	0.11728	5.542000	0.67218	1.581000	0.49865	0.306000	0.20318	CCG		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		6	479	0	0	0	1	0	6	479					A	105413327	G	A	105413327	3	1	175	1	0	0	0	0	1	0	0	0	415	1203	42	2	8930	2	AHNAK2	14	105413327	Missense_Mutation	SNP	G	TCGA-E8-A3X7-01A-11D-A22Z-08	73810731	105413327	1936213	12	3713											
ZNF629	23361	broad.mit.edu	37	chr16	30794300	30794300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttctcaccggtgtggatgCgctggtggcggataagggtg	18	8	1	0			TCGA-E8-A3X7-01A-11D-A22Z-08	TCGA-E8-A3X7-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957	8ad45a93-7b81-453a-ba26-59dddfe5e77c	g.chr16:30794300C>T	ENST00000262525.4	-	3	1556	c.1349G>A	c.(1348-1350)cGc>cAc	p.R450H	RP11-2C24.6_ENST00000575562.1_RNA	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	450					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GGTGTGGATGCGCTGGTGGCG	0.637																																						ENST00000262525.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22						c.(1348-1350)cGc>cAc		zinc finger protein 629							79	88	85					16																	30794300		2197	4300	6497	SO:0001583	missense	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30794300C>T	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"Zinc fingers, C2H2-type"	29008	protein-coding gene	gene with protein product			"zinc finger protein 65"	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.1349G>A	16.37:g.30794300C>T	ENSP00000262525:p.Arg450His						p.R450H	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	1556	-			450					Q15938	Missense_Mutation	SNP	ENST00000262525.4	37	c.1349G>A	CCDS45463.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478562	0.84747	.	.	ENSG00000102870	ENST00000262525	T	0.02446	4.29	5.79	5.79	0.91817	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46442	D	0.000297	T	0.18800	0.0451	M	0.82716	2.605	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.00045	-1.2215	10	0.72032	D	0.01	-60.8034	18.7927	0.91980	0.0:1.0:0.0:0.0	.	450	Q9UEG4	ZN629_HUMAN	H	450	ENSP00000262525:R450H	ENSP00000262525:R450H	R	-	2	0	ZNF629	30701801	0.980000	0.34600	1.000000	0.80357	0.998000	0.95712	1.571000	0.36450	2.735000	0.93741	0.561000	0.74099	CGC		0.637	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		4	157	0	0	0	1	0	4	157					T	30794300	C	T	30794300	3	4	175	1	0	0	0	0	1	0	0	0	18050	768	27	1	1264	1	ZNF629	16	30794300	Missense_Mutation	SNP	C	TCGA-E8-A3X7-01A-11D-A22Z-08		30794300	59560453	13	3714											
ZFHX3	463	broad.mit.edu	37	chr16	72830100	72830100	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttaatgtcaaaatattgccGcaagactcggagctgatcat	9	8	2	2	rs549883293		TCGA-E8-A3X7-01A-11D-A22Z-08	TCGA-E8-A3X7-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957	8ad45a93-7b81-453a-ba26-59dddfe5e77c	g.chr16:72830100G>A	ENST00000268489.5	-	9	7153	c.6481C>T	c.(6481-6483)Cgg>Tgg	p.R2161W	ZFHX3_ENST00000397992.5_Missense_Mutation_p.R1247W	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2161					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)				AAATATTGCCGCAAGACTCGG	0.517																																						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.(6481-6483)Cgg>Tgg		zinc finger homeobox 3							77	73	74					16																	72830100		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.chr16:72830100G>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.6481C>T	16.37:g.72830100G>A	ENSP00000268489:p.Arg2161Trp					ZFHX3_ENST00000397992.5_Missense_Mutation_p.R1247W	p.R2161W	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	7153	-		Ovarian(137;0.13)	2161					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.6481C>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.331959	0.41297	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	D;D	0.96265	-3.96;-3.96	5.51	2.3	0.28687	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.45361	D	0.000370	D	0.98071	0.9364	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98708	1.0703	10	0.87932	D	0	.	14.9676	0.71208	0.0:0.0:0.5169:0.4831	.	2161	Q15911	ZFHX3_HUMAN	W	2161;1247	ENSP00000268489:R2161W;ENSP00000438926:R1247W	ENSP00000268489:R2161W	R	-	1	2	ZFHX3	71387601	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	3.435000	0.52849	0.650000	0.30769	0.561000	0.74099	CGG		0.517	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		4	71	0	0	0	1	0	4	71					A	72830100	G	A	72830100	3	1	175	1	0	0	0	0	1	0	0	0	17631	1086	38	1	4638	1	ZFHX3	16	72830100	Missense_Mutation	SNP	G	TCGA-E8-A3X7-01A-11D-A22Z-08	42035800	72830100	17524653	14	3715											
CABLES1	91768	broad.mit.edu	37	chr18	20716015	20716023	+	In_Frame_Del	DEL	GGCGCCGGC	GGCGCCGGC	-													agggcggcgcggccaagccgGgcgccggcggcgcctgcggc					rs201595073|rs139352344	byFrequency	TCGA-E8-A3X7-01A-11D-A22Z-08	TCGA-E8-A3X7-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957	8ad45a93-7b81-453a-ba26-59dddfe5e77c	g.chr18:20716015_20716023delGGCGCCGGC	ENST00000256925.7	+	1	289_297	c.289_297delGGCGCCGGC	c.(289-297)ggcgccggcdel	p.GAG97del	CABLES1_ENST00000400473.2_Intron|AC105247.1_ENST00000411067.1_RNA	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	97	Ala-rich.|Interacts with TDRD7. {ECO:0000250}.				blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|nervous system development (GO:0007399)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)	cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ggccaagccgggcgccggcggcgcctgcg	0.785														1123	0.224241	0.2602	0.17	5008	,	,		3844	0.244		0.2048	False		,,,				2504	0.2137					ENST00000256925.7																			0				breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11						c.(289-297)del		Cdk5 and Abl enzyme substrate 1																																				SO:0001651	inframe_deletion	91768				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding	g.chr18:20716015_20716023delGGCGCCGGC	BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508			25097	protein-coding gene	gene with protein product		609194				12477932	Standard	NM_138375		Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.289_297delGGCGCCGGC	18.37:g.20716015_20716023delGGCGCCGGC	ENSP00000256925:p.Gly97_Gly99del					CABLES1_ENST00000400473.2_Intron	p.GAG97del	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN			1	289_297	+	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)		97			Ala-rich.|Interacts with TDRD7 (By similarity).		B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	In_Frame_Del	DEL	ENST00000256925.7	37	c.289_297delGGCGCCGGC	CCDS42417.1																																																																																				0.785	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445198.2	NM_138375		6	1						6	1	---	---	---	---	-	20716023	GGCGCCGGC	-	20716015	7	5	175	1	0	1	0	1	0	0	0	0	2529	1232	43	0	291	0	CABLES1	18	20716015	In_Frame_Del	DEL	GGCGCCGGC	TCGA-E8-A3X7-01A-11D-A22Z-08		20716015	57361233	15	3716											
IL28B	282617	broad.mit.edu	37	chr19	39735130	39735130	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtccttcagcagaagcgacTcttcctagacagcaaaggca	9	12	2	2	rs199677823		TCGA-E8-A3X7-01A-11D-A22Z-08	TCGA-E8-A3X7-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957	8ad45a93-7b81-453a-ba26-59dddfe5e77c	g.chr19:39735130T>A	ENST00000413851.2	-	2	223	c.185A>T	c.(184-186)gAg>gTg	p.E62V	IFNL4_ENST00000606380.1_RNA	NM_172139.2	NP_742151.2	Q8IZI9	IFNL3_HUMAN	interferon, lambda 3	62					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of viral genome replication (GO:0045071)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											CAGAAGCGACTCTTCCTAGAC	0.617																																						ENST00000413851.2																			0											c.(184-186)gAg>gTg		interferon, lambda 3							24	32	29					19																	39735130		2201	4298	6499	SO:0001583	missense	282617							g.chr19:39735130T>A	AY129149	CCDS12530.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000197110	ENSG00000197110		"Interferons"	18365	protein-coding gene	gene with protein product		607402	"interleukin 28B", "interleukin 28B (interferon, lambda 3)"	IL28B			Standard	NM_172139		Approved	IL-28B, IL28C	uc010xut.2	Q8IZI9	OTTHUMG00000182805	ENST00000413851.2:c.185A>T	19.37:g.39735130T>A	ENSP00000409000:p.Glu62Val						p.E62V	NM_172139.2	NP_742151.2					2	223	-								A2BDE1|Q6VN56|Q7Z4J3|Q8IWL6	Missense_Mutation	SNP	ENST00000413851.2	37	c.185A>T	CCDS12530.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.841941	0.51057	.	.	ENSG00000197110	ENST00000413851	T	0.37058	1.22	3.01	3.01	0.34805	.	0.775606	0.11634	N	0.544460	T	0.55625	0.1932	M	0.81239	2.535	0.09310	N	1	D	0.59357	0.985	P	0.61201	0.885	T	0.41270	-0.9518	10	0.87932	D	0	-10.0409	7.6568	0.28379	0.0:0.0:0.0:1.0	.	62	Q8IZI9	IL28B_HUMAN	V	62	ENSP00000409000:E62V	ENSP00000409000:E62V	E	-	2	0	IL28B	44426970	0.007000	0.16637	0.052000	0.19188	0.307000	0.27823	1.388000	0.34442	1.388000	0.46506	0.172000	0.16884	GAG		0.617	IFNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463832.1	NM_172139		3	25	0	0	0	1	0	3	25					A	39735130	T	A	39735130	3	1	175	1	0	0	0	0	1	0	0	0	7683	1551	54	5	420	5	IL28B	19	39735130	Missense_Mutation	SNP	T	TCGA-E8-A3X7-01A-11D-A22Z-08		39735130	19393853	16	3717											
LAS1L	81887	broad.mit.edu	37	chrX	64751302	64751302	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catggcgaaggtcaacaatcCaatccggaatatttacctga	8	10	1	1			TCGA-E8-A3X7-01A-11D-A22Z-08	TCGA-E8-A3X7-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957	8ad45a93-7b81-453a-ba26-59dddfe5e77c	g.chrX:64751302C>A	ENST00000374811.3	-	4	489	c.449G>T	c.(448-450)tGg>tTg	p.W150L	LAS1L_ENST00000374807.5_Missense_Mutation_p.W150L|LAS1L_ENST00000374804.5_Missense_Mutation_p.W108L|LAS1L_ENST00000312391.8_Missense_Mutation_p.W150L	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	150					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						GTCAACAATCCAATCCGGAAT	0.428																																						ENST00000374811.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						c.(448-450)tGg>tTg		LAS1-like (S. cerevisiae)							145	133	137					X																	64751302		2203	4300	6503	SO:0001583	missense	81887					MLL1 complex|nucleolus	protein binding	g.chrX:64751302C>A	BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.449G>T	X.37:g.64751302C>A	ENSP00000363944:p.Trp150Leu					LAS1L_ENST00000374807.5_Missense_Mutation_p.W150L|LAS1L_ENST00000312391.8_Missense_Mutation_p.W150L|LAS1L_ENST00000374804.5_Missense_Mutation_p.W108L	p.W150L	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN			4	489	-			150					A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Missense_Mutation	SNP	ENST00000374811.3	37	c.449G>T	CCDS14381.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.452678	0.84209	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804;ENST00000312391	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.77711	0.4171	M	0.72576	2.205	0.53688	D	0.999978	D;D;P	0.89917	0.989;1.0;0.524	P;D;P	0.91635	0.848;0.999;0.635	T	0.78086	-0.2341	9	0.49607	T	0.09	.	14.4703	0.67512	0.0:1.0:0.0:0.0	.	108;150;150	Q9Y4W2-3;Q9Y4W2-2;Q9Y4W2	.;.;LAS1L_HUMAN	L	150;150;108;150	.	ENSP00000308649:W150L	W	-	2	0	LAS1L	64668027	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.890000	0.63178	2.494000	0.84150	0.600000	0.82982	TGG		0.428	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056974.1	NM_031206		6	151	1	0	0.00116845	1	0.00116845	6	151					A	64751302	C	A	64751302	3	1	175	1	0	0	0	0	1	0	0	0	8636	595	21	4	1799	4	LAS1L	23	64751302	Missense_Mutation	SNP	C	TCGA-E8-A3X7-01A-11D-A22Z-08		64751302	90519258	17	3718											
TCEAL5	340543	broad.mit.edu	37	chrX	102528908	102528908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctaagtctttctggcccCtacctccgcccctcactccc	4	21	4	0			TCGA-E8-A3X7-01A-11D-A22Z-08	TCGA-E8-A3X7-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957	8ad45a93-7b81-453a-ba26-59dddfe5e77c	g.chrX:102528908C>T	ENST00000372680.1	-	3	878	c.584G>A	c.(583-585)aGg>aAg	p.R195K		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	195					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TTTCTGGCCCCTACCTCCGCC	0.483																																						ENST00000372680.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						c.(583-585)aGg>aAg		transcription elongation factor A (SII)-like 5							115	102	106					X																	102528908		2203	4300	6503	SO:0001583	missense	340543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chrX:102528908C>T		CCDS35356.1	Xq22.2	2014-03-21			ENSG00000204065	ENSG00000204065			22282	protein-coding gene	gene with protein product						16221301	Standard	NM_001012979		Approved	WEX4	uc004ejz.2	Q5H9L2	OTTHUMG00000022092	ENST00000372680.1:c.584G>A	X.37:g.102528908C>T	ENSP00000361765:p.Arg195Lys						p.R195K	NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN			3	878	-			195					A2RUJ4	Missense_Mutation	SNP	ENST00000372680.1	37	c.584G>A	CCDS35356.1	.	.	.	.	.	.	.	.	.	.	C	5.687	0.311342	0.10789	.	.	ENSG00000204065	ENST00000372680	T	0.39592	1.07	2.53	2.53	0.30540	.	0.000000	0.41938	D	0.000788	T	0.17959	0.0431	N	0.08118	0	0.22581	N	0.998967	B	0.33904	0.431	B	0.25987	0.065	T	0.11817	-1.0572	10	0.37606	T	0.19	.	7.8093	0.29221	0.0:1.0:0.0:0.0	.	195	Q5H9L2	TCAL5_HUMAN	K	195	ENSP00000361765:R195K	ENSP00000361765:R195K	R	-	2	0	TCEAL5	102415564	0.998000	0.40836	0.555000	0.28281	0.284000	0.27059	1.495000	0.35627	1.548000	0.49413	0.292000	0.19580	AGG		0.483	TCEAL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057696.1	XM_291334		8	106	0	0	0	1	0	8	106					T	102528908	C	T	102528908	3	4	175	1	0	0	0	0	1	0	0	0	15671	681	24	2	40	2	TCEAL5	23	102528908	Missense_Mutation	SNP	C	TCGA-E8-A3X7-01A-11D-A22Z-08	37777606	102528908	52741652	18	3719											
MAGEC1	9947	broad.mit.edu	37	chrX	140993904	140993906	+	In_Frame_Del	DEL	CCC	CCC	-													cctctccagattcctgtgagCccctcctcctcctccacttt					rs146816736|rs176040	byFrequency	TCGA-E8-A3X7-01A-11D-A22Z-08	TCGA-E8-A3X7-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	509fc5aa-2cc9-4fb2-be5e-a34dfa2f4957	8ad45a93-7b81-453a-ba26-59dddfe5e77c	g.chrX:140993904_140993906delCCC	ENST00000285879.4	+	4	1000_1002	c.714_716delCCC	c.(712-717)agcccc>agc	p.P239del	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	239				P -> S (in Ref. 1 and 2). {ECO:0000305}.				p.P239S(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGTGAGCCCCTCCTCCTCC	0.478										HNSCC(15;0.026)																												ENST00000285879.4																			2	Substitution - Missense(2)	p.P239S(2)	stomach(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(712-717)agc>ag		melanoma antigen family C, 1																																				SO:0001651	inframe_deletion	9947						protein binding	g.chrX:140993904_140993906delCCC	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.714_716delCCC	X.37:g.140993904_140993906delCCC	ENSP00000285879:p.Pro239del	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.SP238del	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1000_1002	+	Acute lymphoblastic leukemia(192;6.56e-05)		238					A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	c.714_716delCCC	CCDS35417.1																																																																																				0.478	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		32	126						32	126	---	---	---	---	-	140993906	CCC	-	140993904	7	5	175	1	0	1	0	1	0	0	0	0	9180	738	26	0	720	0	MAGEC1	23	140993904	In_Frame_Del	DEL	CCC	TCGA-E8-A3X7-01A-11D-A22Z-08	38464996	140993904	14276656	19	3720											
HSP90AB1	3326	broad.mit.edu	37	chr6	44221299	44221299	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatcccccctctcgagggCgatgaggatgcgtctcgcat	13	13	2	2	rs143048794	byFrequency	TCGA-E8-A413-01A-21D-A23M-08	TCGA-E8-A413-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd754e97-f9c6-456e-9717-b7d62c71bef1	2ca22eb2-35b8-4dae-9781-138eeda9725e	g.chr6:44221299C>T	ENST00000371554.1	+	12	2353	c.2139C>T	c.(2137-2139)ggC>ggT	p.G713G	HSP90AB1_ENST00000371646.5_Silent_p.G713G|SLC35B2_ENST00000495706.1_5'Flank|MIR4647_ENST00000583964.1_RNA|HSP90AB1_ENST00000353801.3_Silent_p.G713G			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	713					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)	p.G713G(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTCTCGAGGGCGATGAGGATG	0.498											OREG0017471	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000371554.1																			1	Substitution - coding silent(1)	p.G713G(1)	lung(1)	NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33						c.(2137-2139)ggC>ggT		heat shock protein 90kDa alpha (cytosolic), class B member 1							79	82	81					6																	44221299		2203	4300	6503	SO:0001819	synonymous_variant	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44221299C>T	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"Heat shock proteins / HSPC"	5258	protein-coding gene	gene with protein product		140572	"heat shock 90kD protein 1, beta", "heat shock 90kDa protein 1, beta"	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.2139C>T	6.37:g.44221299C>T			OREG0017471	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	922	HSP90AB1_ENST00000371646.5_Silent_p.G713G|HSP90AB1_ENST00000353801.3_Silent_p.G713G	p.G713G			P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		12	2353	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		713					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Silent	SNP	ENST00000371554.1	37	c.2139C>T	CCDS4909.1																																																																																				0.498	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		4	72	0	0	0	1	0	4	72					T	44221299	C	T	44221299	2	4	176	1	0	0	0	0	0	0	0	1	7402	755	27	1		1	HSP90AB1	6	44221299	Silent	SNP	C	TCGA-E8-A413-01A-21D-A23M-08		44221299	126893768	1	3721											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E8-A413-01A-21D-A23M-08	TCGA-E8-A413-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd754e97-f9c6-456e-9717-b7d62c71bef1	2ca22eb2-35b8-4dae-9781-138eeda9725e	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		23	80	0	0	0	1	0	23	80					T	140453136	A	T	140453136	3	4	176	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E8-A413-01A-21D-A23M-08		140453136	18685527	2	3722											
CUBN	8029	broad.mit.edu	37	chr10	16990602	16990602	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgtcggtgccacagtaaCggcctaaataatgaagataa	10	8	0	2	rs145880377		TCGA-E8-A413-01A-21D-A23M-08	TCGA-E8-A413-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd754e97-f9c6-456e-9717-b7d62c71bef1	2ca22eb2-35b8-4dae-9781-138eeda9725e	g.chr10:16990602C>T	ENST00000377833.4	-	35	5149	c.5084G>A	c.(5083-5085)cGt>cAt	p.R1695H		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1695	CUB 11. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCCACAGTAACGGCCTAAATA	0.473																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(5083-5085)cGt>cAt		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	80	72	74		5084	5.6	0.9	10	dbSNP_134	74	0,8600		0,0,4300	no	missense	CUBN	NM_001081.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1695/3624	16990602	1,13005	2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16990602C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.5084G>A	10.37:g.16990602C>T	ENSP00000367064:p.Arg1695His						p.R1695H	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			35	5149	-			1695			CUB 11.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.5084G>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.560343	0.86335	2.27E-4	0.0	ENSG00000107611	ENST00000377833	T	0.20069	2.1	5.55	5.55	0.83447	CUB (5);	0.213163	0.20298	N	0.095090	T	0.53174	0.1780	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.57069	-0.7874	10	0.72032	D	0.01	.	19.5027	0.95103	0.0:1.0:0.0:0.0	.	1695	O60494	CUBN_HUMAN	H	1695	ENSP00000367064:R1695H	ENSP00000367064:R1695H	R	-	2	0	CUBN	17030608	1.000000	0.71417	0.865000	0.33974	0.526000	0.34562	5.121000	0.64691	2.601000	0.87937	0.655000	0.94253	CGT		0.473	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		3	35	0	0	0	1	0	3	35					T	16990602	C	T	16990602	3	4	176	1	0	0	0	0	1	0	0	0	4051	536	19	1	5919	1	CUBN	10	16990602	Missense_Mutation	SNP	C	TCGA-E8-A413-01A-21D-A23M-08		16990602	118544145	3	3723											
NAA16	79612	broad.mit.edu	37	chr13	41949684	41949684	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgaatgaagtcgacaatccTaatgtggcactgaaccatac	9	9	0	3			TCGA-E8-A413-01A-21D-A23M-08	TCGA-E8-A413-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd754e97-f9c6-456e-9717-b7d62c71bef1	2ca22eb2-35b8-4dae-9781-138eeda9725e	g.chr13:41949684T>G	ENST00000379406.3	+	20	2865	c.2541T>G	c.(2539-2541)ccT>ccG	p.P847P	NAA16_ENST00000497143.1_3'UTR	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	847					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						TCGACAATCCTAATGTGGCAC	0.393																																						ENST00000379406.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						c.(2539-2541)ccT>ccG		N(alpha)-acetyltransferase 16, NatA auxiliary subunit							155	133	141					13																	41949684		2203	4300	6503	SO:0001819	synonymous_variant	79612				N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	g.chr13:41949684T>G	AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"N(alpha)-acetyltransferase subunits", "Tetratricopeptide (TTC) repeat domain containing"	26164	protein-coding gene	gene with protein product			"NMDA receptor regulated 1-like"	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.2541T>G	13.37:g.41949684T>G						NAA16_ENST00000497143.1_3'UTR	p.P847P	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN			20	2865	+			847					B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Silent	SNP	ENST00000379406.3	37	c.2541T>G	CCDS9379.1																																																																																				0.393	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2	NM_018527		32	91	0	0	0	1	0	32	91					G	41949684	T	G	41949684	2	3	176	1	0	0	0	0	0	0	0	1	10119	1509	53	5		5	NAA16	13	41949684	Silent	SNP	T	TCGA-E8-A413-01A-21D-A23M-08		41949684	73220194	4	3724											
ZC3H13	23091	broad.mit.edu	37	chr13	46559772	46559772	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggtccctagtatctctggcAtctctccgatcccgaccatc	7	17	2	0			TCGA-E8-A413-01A-21D-A23M-08	TCGA-E8-A413-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd754e97-f9c6-456e-9717-b7d62c71bef1	2ca22eb2-35b8-4dae-9781-138eeda9725e	g.chr13:46559772A>G	ENST00000242848.4	-	10	1728	c.1380T>C	c.(1378-1380)gaT>gaC	p.D460D	ZC3H13_ENST00000282007.3_Silent_p.D460D			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	460	Arg/Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TATCTCTGGCATCTCTCCGAT	0.488																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(1378-1380)gaT>gaC		zinc finger CCCH-type containing 13							219	203	208					13																	46559772		2203	4300	6503	SO:0001819	synonymous_variant	23091						nucleic acid binding|zinc ion binding	g.chr13:46559772A>G	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.1380T>C	13.37:g.46559772A>G						ZC3H13_ENST00000282007.3_Silent_p.D460D	p.D460D			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	10	1728	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	460			Arg/Ser-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Silent	SNP	ENST00000242848.4	37	c.1380T>C																																																																																					0.488	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		10	215	0	0	0	1	0	10	215					G	46559772	A	G	46559772	2	3	176	1	0	0	0	0	0	0	0	1	17562	214	8	3		3	ZC3H13	13	46559772	Silent	SNP	A	TCGA-E8-A413-01A-21D-A23M-08	4610088	46559772	68610106	5	3725											
C14orf183	196913	broad.mit.edu	37	chr14	50550617	50550617	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggggctggccaccaacacCgcacccacctgtggggcctc	12	17	0	0			TCGA-E8-A413-01A-21D-A23M-08	TCGA-E8-A413-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd754e97-f9c6-456e-9717-b7d62c71bef1	2ca22eb2-35b8-4dae-9781-138eeda9725e	g.chr14:50550617C>T	ENST00000305273.1	-	5	726	c.727G>A	c.(727-729)Ggt>Agt	p.G243S	RP11-58E21.7_ENST00000556019.2_lincRNA|RP11-58E21.5_ENST00000603228.1_lincRNA	NM_001014830.1	NP_001014830.1	Q8WXQ3	CN183_HUMAN	chromosome 14 open reading frame 183	243										endometrium(2)|large_intestine(2)|lung(3)	7						CCACCAACACCGCACCCACCT	0.677																																						ENST00000305273.1																			0				endometrium(2)|large_intestine(2)|lung(3)	7						c.(727-729)Ggt>Agt		chromosome 14 open reading frame 183							12	14	14					14																	50550617		1902	4093	5995	SO:0001583	missense	196913							g.chr14:50550617C>T	AF390030	CCDS45101.1	14q21.3	2012-09-26			ENSG00000168260	ENSG00000168260			27285	protein-coding gene	gene with protein product							Standard	NM_001014830		Approved		uc010tqk.2	Q8WXQ3	OTTHUMG00000170858	ENST00000305273.1:c.727G>A	14.37:g.50550617C>T	ENSP00000303234:p.Gly243Ser					RP11-58E21.5_ENST00000556019.2_lincRNA	p.G243S	NM_001014830.1	NP_001014830.1	Q8WXQ3	CN183_HUMAN			5	726	-			243						Missense_Mutation	SNP	ENST00000305273.1	37	c.727G>A	CCDS45101.1	.	.	.	.	.	.	.	.	.	.	C	5.504	0.277901	0.10403	.	.	ENSG00000168260	ENST00000305273	.	.	.	1.95	-3.9	0.04181	.	.	.	.	.	T	0.16214	0.0390	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14896	-1.0456	8	0.87932	D	0	.	5.7047	0.17901	0.0:0.363:0.1434:0.4936	.	243	Q8WXQ3	CN183_HUMAN	S	243	.	ENSP00000303234:G243S	G	-	1	0	C14orf183	49620367	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.739000	0.01840	-2.423000	0.00562	-2.035000	0.00420	GGT		0.677	C14orf183-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000410705.1	NM_001014830		3	29	0	0	0	1	0	3	29					T	50550617	C	T	50550617	3	4	176	1	0	0	0	0	1	0	0	0	1766	652	23	1	250	1	C14orf183	14	50550617	Missense_Mutation	SNP	C	TCGA-E8-A413-01A-21D-A23M-08		50550617	56798923	6	3726											
SLC28A1	9154	broad.mit.edu	37	chr15	85478621	85478621	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgggaggactgcccagtgGtagctgagctgctggggatc	18	9	0	1			TCGA-E8-A413-01A-21D-A23M-08	TCGA-E8-A413-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd754e97-f9c6-456e-9717-b7d62c71bef1	2ca22eb2-35b8-4dae-9781-138eeda9725e	g.chr15:85478621G>A	ENST00000286749.3	+	14	1543	c.1453G>A	c.(1453-1455)Gta>Ata	p.V485I	SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000394573.1_Missense_Mutation_p.V485I|SLC28A1_ENST00000537216.1_Missense_Mutation_p.V485I|SLC28A1_ENST00000537624.1_Missense_Mutation_p.V485I			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	485					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	CTGCCCAGTGGTAGCTGAGCT	0.597																																						ENST00000394573.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(1453-1455)Gta>Ata		solute carrier family 28 (concentrative nucleoside transporter), member 1							129	104	113					15																	85478621		2203	4299	6502	SO:0001583	missense	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85478621G>A	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"Solute carriers"	11001	protein-coding gene	gene with protein product		606207	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1453G>A	15.37:g.85478621G>A	ENSP00000286749:p.Val485Ile					SLC28A1_ENST00000286749.3_Missense_Mutation_p.V485I|SLC28A1_ENST00000537216.1_Missense_Mutation_p.V485I|SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000537624.1_Missense_Mutation_p.V485I	p.V485I	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		15	1655	+			485					A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	ENST00000286749.3	37	c.1453G>A	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.481121	0.84747	.	.	ENSG00000156222	ENST00000537216;ENST00000537624;ENST00000286749;ENST00000394573	T;T;T;T	0.07567	3.18;3.18;3.18;3.18	5.19	5.19	0.71726	Na dependent nucleoside transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.27765	0.0683	M	0.78916	2.43	0.80722	D	1	D;P;D	0.60575	0.988;0.914;0.965	P;P;P	0.61722	0.893;0.868;0.893	T	0.00579	-1.1661	10	0.59425	D	0.04	-12.5527	16.2565	0.82519	0.0:0.0:1.0:0.0	.	485;485;485	B7Z533;F5H560;O00337	.;.;S28A1_HUMAN	I	485	ENSP00000440546:V485I;ENSP00000444700:V485I;ENSP00000286749:V485I;ENSP00000378074:V485I	ENSP00000286749:V485I	V	+	1	0	SLC28A1	83279625	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	9.280000	0.95786	2.698000	0.92095	0.455000	0.32223	GTA		0.597	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			28	79	0	0	0	1	0	28	79					A	85478621	G	A	85478621	3	1	176	1	0	0	0	0	1	0	0	0	14531	1261	44	2	1574	2	SLC28A1	15	85478621	Missense_Mutation	SNP	G	TCGA-E8-A413-01A-21D-A23M-08		85478621	17052771	7	3727											
PIK3CD	5293	broad.mit.edu	37	chr1	9777593	9777593	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccctgcttccccggcccccAgccttcctctgtgtccctgt	8	21	1	0			TCGA-E8-A414-01A-11D-A23M-08	TCGA-E8-A414-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dd3d5c-8dbe-4adc-aa69-92fb7555b60b	ef1cce9d-bdc5-4303-9def-d252d105a958	g.chr1:9777593A>G	ENST00000377346.4	+	8	1125		c.e8-1		PIK3CD_ENST00000361110.2_Splice_Site|PIK3CD_ENST00000543390.1_5'Flank|PIK3CD_ENST00000536656.1_Splice_Site	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta						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)	CCCGGCCCCCAGCCTTCCTCT	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.e8-1		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta							60	60	60					1																	9777593		2203	4300	6503	SO:0001630	splice_region_variant	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.chr1:9777593A>G		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.931-1A>G	1.37:g.9777593A>G						PIK3CD_ENST00000361110.2_Splice_Site|PIK3CD_ENST00000377346.4_Splice_Site				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)	8	1033	+	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)						A6NCG0|G1FFP1|O15445|Q5SR49	Splice_Site	SNP	ENST00000377346.4	37		CCDS104.1	.	.	.	.	.	.	.	.	.	.	A	14.95	2.688673	0.48097	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.066	0.64828	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PIK3CD	9700180	1.000000	0.71417	1.000000	0.80357	0.363000	0.29612	8.018000	0.88722	2.062000	0.61559	0.533000	0.62120	.		0.647	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026	Intron	11	39	0	0	0	1	0	11	39					G	9777593	A	G	9777593	5	3	177	1	0	0	0	0	0	0	1	0	11915	202	7	3	951	3	PIK3CD	1	9777593	Splice_Site	SNP	A	TCGA-E8-A414-01A-11D-A23M-08		9777593	239473028	1	3728											
SPTA1	6708	broad.mit.edu	37	chr1	158615133	158615133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcactgaagtcctctaaggCctggaaggtgggagcctctg	14	10	2	1			TCGA-E8-A414-01A-11D-A23M-08	TCGA-E8-A414-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dd3d5c-8dbe-4adc-aa69-92fb7555b60b	ef1cce9d-bdc5-4303-9def-d252d105a958	g.chr1:158615133C>T	ENST00000368147.4	-	29	4219	c.4039G>A	c.(4039-4041)Gcc>Acc	p.A1347T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1347					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCCTCTAAGGCCTGGAAGGTG	0.473																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(4039-4041)Gcc>Acc		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							69	67	68					1																	158615133		1913	4146	6059	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158615133C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4039G>A	1.37:g.158615133C>T	ENSP00000357129:p.Ala1347Thr					SPTA1_ENST00000368147.3_Missense_Mutation_p.A1347T	p.A1347T	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			29	4219	-	all_hematologic(112;0.0378)		1347					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.4039G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226811	0.79576	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51817	0.69;0.69	4.96	4.96	0.65561	.	.	.	.	.	T	0.41743	0.1172	L	0.50333	1.59	0.58432	D	0.999991	B	0.32396	0.369	B	0.44278	0.445	T	0.30446	-0.9978	9	0.28530	T	0.3	.	16.9551	0.86257	0.0:1.0:0.0:0.0	.	1347	P02549	SPTA1_HUMAN	T	1347	ENSP00000357130:A1347T;ENSP00000357129:A1347T	ENSP00000357129:A1347T	A	-	1	0	SPTA1	156881757	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.085000	0.76875	2.571000	0.86741	0.650000	0.86243	GCC		0.473	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		18	40	0	0	0	1	0	18	40					T	158615133	C	T	158615133	3	4	177	1	0	0	0	0	1	0	0	0	15115	739	26	2	3316	2	SPTA1	1	158615133	Missense_Mutation	SNP	C	TCGA-E8-A414-01A-11D-A23M-08	148837540	158615133	90635488	2	3729											
EML4	27436	broad.mit.edu	37	chr2	42510053	42510053	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgcatcagtagtagtactAtttaattatgaggagagaac	9	4	1	2			TCGA-E8-A414-01A-11D-A23M-08	TCGA-E8-A414-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dd3d5c-8dbe-4adc-aa69-92fb7555b60b	ef1cce9d-bdc5-4303-9def-d252d105a958	g.chr2:42510053A>G	ENST00000318522.5	+	8	1144	c.882A>G	c.(880-882)ctA>ctG	p.L294L	EML4_ENST00000402711.2_Silent_p.L236L|EML4_ENST00000401738.3_Silent_p.L305L	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	294					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						TAGTAGTACTATTTAATTATG	0.378			T	ALK	NSCLC																																	ENST00000318522.5				Dom	yes		2	2p21	27436	T	echinoderm microtubule associated protein like 4			E	ALK		NSCLC	EML4/ALK(543)	0				NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(880-882)ctA>ctG		echinoderm microtubule associated protein like 4							122	124	123					2																	42510053		2203	4300	6503	SO:0001819	synonymous_variant	27436				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	g.chr2:42510053A>G	AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"WD repeat domain containing"	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.882A>G	2.37:g.42510053A>G						EML4_ENST00000402711.2_Silent_p.L236L|EML4_ENST00000401738.3_Silent_p.L305L	p.L294L	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN			8	1144	+			294					A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Silent	SNP	ENST00000318522.5	37	c.882A>G	CCDS1807.1																																																																																				0.378	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063		5	79	0	0	0	1	0	5	79					G	42510053	A	G	42510053	2	3	177	1	0	0	0	0	0	0	0	1	5099	436	16	3		3	EML4	2	42510053	Silent	SNP	A	TCGA-E8-A414-01A-11D-A23M-08		42510053	200689320	3	3730											
DOCK2	1794	broad.mit.edu	37	chr5	169108863	169108863	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aagcaactgataaaatcacaGagcgtatcaaagaagaaatg	8	6	2	4			TCGA-E8-A414-01A-11D-A23M-08	TCGA-E8-A414-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dd3d5c-8dbe-4adc-aa69-92fb7555b60b	ef1cce9d-bdc5-4303-9def-d252d105a958	g.chr5:169108863G>C	ENST00000256935.8	+	7	666	c.586G>C	c.(586-588)Gag>Cag	p.E196Q		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	196					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TAAAATCACAGAGCGTATCAA	0.373																																						ENST00000256935.8																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(586-588)Gag>Cag		dedicator of cytokinesis 2							122	118	119					5																	169108863		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169108863G>C	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.586G>C	5.37:g.169108863G>C	ENSP00000256935:p.Glu196Gln						p.E196Q	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		7	666	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	196					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.586G>C	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.313448	0.60414	.	.	ENSG00000134516	ENST00000256935	T	0.49720	0.77	4.7	4.7	0.59300	.	0.047530	0.85682	D	0.000000	T	0.47060	0.1425	L	0.52126	1.63	0.80722	D	1	P	0.47762	0.9	P	0.44811	0.461	T	0.37979	-0.9682	10	0.18276	T	0.48	.	18.0283	0.89275	0.0:0.0:1.0:0.0	.	196	Q92608	DOCK2_HUMAN	Q	196	ENSP00000256935:E196Q	ENSP00000256935:E196Q	E	+	1	0	DOCK2	169041441	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.412000	0.97347	2.323000	0.78572	0.655000	0.94253	GAG		0.373	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		6	111	0	0	0	1	0	6	111					C	169108863	G	C	169108863	3	2	177	1	0	0	0	0	1	0	0	0	4687	943	33	4	612	4	DOCK2	5	169108863	Missense_Mutation	SNP	G	TCGA-E8-A414-01A-11D-A23M-08		169108863	11806397	4	3731											
STXBP5	134957	broad.mit.edu	37	chr6	147685192	147685192	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttgccccttaccaatatgCggatagccagaacgttctgc	8	13	1	1			TCGA-E8-A414-01A-11D-A23M-08	TCGA-E8-A414-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dd3d5c-8dbe-4adc-aa69-92fb7555b60b	ef1cce9d-bdc5-4303-9def-d252d105a958	g.chr6:147685192C>T	ENST00000321680.6	+	25	2971	c.2971C>T	c.(2971-2973)Cgg>Tgg	p.R991W	STXBP5_ENST00000367480.3_Missense_Mutation_p.R938W|STXBP5_ENST00000367481.3_Missense_Mutation_p.R955W|STXBP5_ENST00000179882.6_Missense_Mutation_p.R646W	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	991					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)	p.R955W(1)|p.R991W(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TACCAATATGCGGATAGCCAG	0.363																																						ENST00000367481.3																			2	Substitution - Missense(2)	p.R955W(1)|p.R991W(1)	kidney(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42						c.(2863-2865)Cgg>Tgg		syntaxin binding protein 5 (tomosyn)							189	181	184					6																	147685192		2203	4300	6503	SO:0001583	missense	0				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147685192C>T	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"WD repeat domain containing"	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.2971C>T	6.37:g.147685192C>T	ENSP00000321826:p.Arg991Trp					STXBP5_ENST00000321680.6_Missense_Mutation_p.R991W|STXBP5_ENST00000179882.6_Missense_Mutation_p.R646W|STXBP5_ENST00000367480.3_Missense_Mutation_p.R938W	p.R955W	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	23	2971	+		Ovarian(120;0.0164)	991					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	c.2863C>T	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218984	0.79464	.	.	ENSG00000164506	ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	5.84	2.77	0.32553	Lethal giant larvae (Lgl)-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.39784	0.1091	M	0.81682	2.555	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	T	0.43556	-0.9384	10	0.72032	D	0.01	.	11.1257	0.48317	0.2422:0.6922:0.0:0.0656	.	955;991;646	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	W	955;991;938;646	ENSP00000356451:R955W;ENSP00000321826:R991W;ENSP00000356450:R938W;ENSP00000179882:R646W	ENSP00000179882:R646W	R	+	1	2	STXBP5	147726885	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.045000	0.57368	0.793000	0.33875	-0.182000	0.12963	CGG		0.363	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			6	184	0	0	0	1	0	6	184					T	147685192	C	T	147685192	3	4	177	1	0	0	0	0	1	0	0	0	15355	759	27	1	3069	1	STXBP5	6	147685192	Missense_Mutation	SNP	C	TCGA-E8-A414-01A-11D-A23M-08		147685192	23429875	5	3732											
DGKB	1607	broad.mit.edu	37	chr7	14652983	14652983	+	Frame_Shift_Del	DEL	C	C	-													accgttctccttgttttccaCcacttttggggttcacaaaa							TCGA-E8-A414-01A-11D-A23M-08	TCGA-E8-A414-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dd3d5c-8dbe-4adc-aa69-92fb7555b60b	ef1cce9d-bdc5-4303-9def-d252d105a958	g.chr7:14652983delC	ENST00000403951.2	-	16	1762	c.1343delG	c.(1342-1344)ggtfs	p.G449fs	DGKB_ENST00000399322.3_Frame_Shift_Del_p.G449fs|DGKB_ENST00000258767.5_Frame_Shift_Del_p.G449fs|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000406247.3_Frame_Shift_Del_p.G449fs|DGKB_ENST00000407950.1_Frame_Shift_Del_p.G441fs|DGKB_ENST00000444700.2_Frame_Shift_Del_p.G430fs|DGKB_ENST00000402815.1_Frame_Shift_Del_p.G448fs			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	449	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						TTGTTTTCCACCACTTTTGGG	0.318																																						ENST00000403951.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1342-1344)gtfs		diacylglycerol kinase, beta 90kDa	Phosphatidylserine(DB00144)						42	42	42					7																	14652983		1814	4065	5879	SO:0001589	frameshift_variant	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14652983delC	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"EF-hand domain containing"	2850	protein-coding gene	gene with protein product		604070	"diacylglycerol kinase, beta (90kD)"	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.1343delG	7.37:g.14652983delC	ENSP00000385780:p.Gly449fs					DGKB_ENST00000407950.1_Frame_Shift_Del_p.G441fs|DGKB_ENST00000406247.3_Frame_Shift_Del_p.G449fs|DGKB_ENST00000399322.3_Frame_Shift_Del_p.G449fs|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000402815.1_Frame_Shift_Del_p.G448fs|DGKB_ENST00000258767.5_Frame_Shift_Del_p.G449fs|DGKB_ENST00000444700.2_Frame_Shift_Del_p.G430fs	p.G449fs			Q9Y6T7	DGKB_HUMAN			16	1762	-			449			DAGKc.		A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Frame_Shift_Del	DEL	ENST00000403951.2	37	c.1343delG	CCDS47547.1																																																																																				0.318	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		2	4						2	4	---	---	---	---	-	14652983	C	-	14652983	7	5	177	1	0	1	0	1	0	0	0	0	4466	507	18	0	1130	0	DGKB	7	14652983	Frame_Shift_Del	DEL	C	TCGA-E8-A414-01A-11D-A23M-08		14652983	144485680	6	3733											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E8-A414-01A-11D-A23M-08	TCGA-E8-A414-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dd3d5c-8dbe-4adc-aa69-92fb7555b60b	ef1cce9d-bdc5-4303-9def-d252d105a958	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		7	46	0	0	0	1	0	7	46					T	140453136	A	T	140453136	3	4	177	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E8-A414-01A-11D-A23M-08	125800153	140453136	18685527	7	3734											
SLC15A3	51296	broad.mit.edu	37	chr11	60714262	60714262	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtaaaaccagttgaagaagCggcgggtggcgtcgcggccg	17	9	0	2	rs142952480	byFrequency	TCGA-E8-A414-01A-11D-A23M-08	TCGA-E8-A414-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dd3d5c-8dbe-4adc-aa69-92fb7555b60b	ef1cce9d-bdc5-4303-9def-d252d105a958	g.chr11:60714262C>A	ENST00000227880.3	-	2	823	c.590G>T	c.(589-591)cGc>cTc	p.R197L		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	197					ion transport (GO:0006811)|peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	symporter activity (GO:0015293)	p.R197L(1)		central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						GTTGAAGAAGCGGCGGGTGGC	0.597																																						ENST00000227880.3																			1	Substitution - Missense(1)	p.R197L(1)	lung(1)	central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						c.(589-591)cGc>cTc		solute carrier family 15 (oligopeptide transporter), member 3							109	109	109					11																	60714262		2203	4299	6502	SO:0001583	missense	51296				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	g.chr11:60714262C>A	AB020598	CCDS7998.1	11q12.2	2013-07-18	2013-07-18		ENSG00000110446	ENSG00000110446		"Solute carriers"	18068	protein-coding gene	gene with protein product		610408	"solute carrier family 15, member 3"			11336635, 11741232	Standard	NM_016582		Approved	PHT2, hPTR3	uc001nqn.2	Q8IY34	OTTHUMG00000167804	ENST00000227880.3:c.590G>T	11.37:g.60714262C>A	ENSP00000227880:p.Arg197Leu						p.R197L	NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN			2	823	-			197					Q9P2X9	Missense_Mutation	SNP	ENST00000227880.3	37	c.590G>T	CCDS7998.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010068	0.93346	.	.	ENSG00000110446	ENST00000227880;ENST00000442626;ENST00000536491;ENST00000538739	T;T;T	0.58797	0.31;0.31;0.31	4.65	4.65	0.58169	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.53938	D	0.000057	T	0.75796	0.3898	M	0.77313	2.365	0.45439	D	0.998418	P;D	0.89917	0.953;1.0	P;D	0.91635	0.891;0.999	T	0.75164	-0.3414	10	0.36615	T	0.2	-31.7992	16.8305	0.85943	0.0:1.0:0.0:0.0	.	197;197	F5H1C8;Q8IY34	.;S15A3_HUMAN	L	197;197;10;64	ENSP00000227880:R197L;ENSP00000439535:R10L;ENSP00000441559:R64L	ENSP00000227880:R197L	R	-	2	0	SLC15A3	60470838	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.204000	0.77872	2.596000	0.87737	0.591000	0.81541	CGC		0.597	SLC15A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396366.1	NM_016582		4	203	1	0	0.184627	1	0.184627	4	203					A	60714262	C	A	60714262	3	1	177	1	0	0	0	0	1	0	0	0	14400	768	27	4	1183	4	SLC15A3	11	60714262	Missense_Mutation	SNP	C	TCGA-E8-A414-01A-11D-A23M-08		60714262	74292254	8	3735											
ANKRD13D	338692	broad.mit.edu	37	chr11	67059566	67059566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacactgctggccgccatgCggcccagcgaggagcatgtg	14	13	0	0			TCGA-E8-A414-01A-11D-A23M-08	TCGA-E8-A414-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dd3d5c-8dbe-4adc-aa69-92fb7555b60b	ef1cce9d-bdc5-4303-9def-d252d105a958	g.chr11:67059566C>T	ENST00000447274.2	+	6	1560	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	ANKRD13D_ENST00000514166.1_Missense_Mutation_p.R129W|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.R129W|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.R216W			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	129						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)			GGCCGCCATGCGGCCCAGCGA	0.632																																						ENST00000447274.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9						c.(385-387)Cgg>Tgg		ankyrin repeat domain 13 family, member D							56	58	57					11																	67059566		2200	4295	6495	SO:0001583	missense	338692							g.chr11:67059566C>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.385C>T	11.37:g.67059566C>T	ENSP00000402616:p.Arg129Trp					ANKRD13D_ENST00000514166.1_Missense_Mutation_p.R129W|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.R129W|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.R216W	p.R129W			Q6ZTN6	AN13D_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		6	1560	+			129					D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Missense_Mutation	SNP	ENST00000447274.2	37	c.385C>T		.	.	.	.	.	.	.	.	.	.	C	25.7	4.670081	0.88348	.	.	ENSG00000172932	ENST00000447274;ENST00000511455;ENST00000308440;ENST00000514166	T;T;T;T	0.32023	1.47;1.65;1.47;1.47	4.04	4.04	0.47022	.	0.090880	0.46145	D	0.000306	T	0.41328	0.1154	L	0.34521	1.04	0.53688	D	0.999978	D;D	0.76494	0.998;0.999	P;P	0.61658	0.784;0.892	T	0.40534	-0.9558	10	0.72032	D	0.01	-35.128	15.5179	0.75840	0.0:1.0:0.0:0.0	.	216;129	Q6ZTN6-3;Q6ZTN6	.;AN13D_HUMAN	W	129;216;129;129	ENSP00000402616:R129W;ENSP00000427130:R216W;ENSP00000310874:R129W;ENSP00000444404:R129W	ENSP00000310874:R129W	R	+	1	2	ANKRD13D	66816142	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.024000	0.49674	2.267000	0.75376	0.655000	0.94253	CGG		0.632	ANKRD13D-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000371067.2	NM_207354		4	108	0	0	0	1	0	4	108					T	67059566	C	T	67059566	3	4	177	1	0	0	0	0	1	0	0	0	644	759	27	1	668	1	ANKRD13D	11	67059566	Missense_Mutation	SNP	C	TCGA-E8-A414-01A-11D-A23M-08	6345304	67059566	67946950	9	3736											
DDX23	9416	broad.mit.edu	37	chr12	49229903	49229903	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggtgctagctgacctcaCctgtcaattttgggaagtgt	12	9	2	1			TCGA-E8-A414-01A-11D-A23M-08	TCGA-E8-A414-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dd3d5c-8dbe-4adc-aa69-92fb7555b60b	ef1cce9d-bdc5-4303-9def-d252d105a958	g.chr12:49229903C>T	ENST00000308025.3	-	11	1462		c.e11+1		DDX23_ENST00000553182.1_5'Flank	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23						ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						GCTGACCTCACCTGTCAATTT	0.483																																						ENST00000308025.3																			0				NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						c.e11+1		DEAD (Asp-Glu-Ala-Asp) box polypeptide 23							195	183	187					12																	49229903		2203	4300	6503	SO:0001630	splice_region_variant	9416					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	g.chr12:49229903C>T	AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"DEAD-boxes"	17347	protein-coding gene	gene with protein product		612172	"PRP28 homolog, yeast"			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.1382+1G>A	12.37:g.49229903C>T								NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN			11	1462	-								B2R600|B4DH15|O43188	Splice_Site	SNP	ENST00000308025.3	37		CCDS8770.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.882658	0.72410	.	.	ENSG00000174243	ENST00000308025	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1267	0.89587	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DDX23	47516170	1.000000	0.71417	0.996000	0.52242	0.728000	0.41692	7.601000	0.82783	2.571000	0.86741	0.561000	0.74099	.		0.483	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818	Intron	49	169	0	0	0	1	0	49	169					T	49229903	C	T	49229903	5	4	177	1	0	0	0	0	0	0	1	0	4350	521	18	2	1107	2	DDX23	12	49229903	Splice_Site	SNP	C	TCGA-E8-A414-01A-11D-A23M-08		49229903	84621992	10	3737											
C16orf87	388272	broad.mit.edu	37	chr16	46843541	46843541	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cttcctcatgttttttggcaGatgcacttttaggtcttcct	7	10	2	1			TCGA-E8-A414-01A-11D-A23M-08	TCGA-E8-A414-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dd3d5c-8dbe-4adc-aa69-92fb7555b60b	ef1cce9d-bdc5-4303-9def-d252d105a958	g.chr16:46843541G>C	ENST00000285697.4	-	3	581	c.320C>G	c.(319-321)tCt>tGt	p.S107C	C16orf87_ENST00000394806.2_Intron|C16orf87_ENST00000564250.1_5'UTR	NM_001001436.2	NP_001001436.1	Q6PH81	CP087_HUMAN	chromosome 16 open reading frame 87	107										large_intestine(4)|urinary_tract(1)	5						TTTTTTGGCAGATGCACTTTT	0.338																																						ENST00000285697.4																			0				large_intestine(4)|urinary_tract(1)	5						c.(319-321)tCt>tGt		chromosome 16 open reading frame 87							270	248	256					16																	46843541		2203	4300	6503	SO:0001583	missense	388272							g.chr16:46843541G>C		CCDS10724.1	16q11.2	2008-08-08			ENSG00000155330	ENSG00000155330			33754	protein-coding gene	gene with protein product							Standard	NM_001001436		Approved		uc002eek.1	Q6PH81	OTTHUMG00000132538	ENST00000285697.4:c.320C>G	16.37:g.46843541G>C	ENSP00000285697:p.Ser107Cys					C16orf87_ENST00000564250.1_5'UTR|C16orf87_ENST00000394806.2_Intron	p.S107C	NM_001001436.2	NP_001001436.1	Q6PH81	CP087_HUMAN			3	581	-			107					Q63HN9	Missense_Mutation	SNP	ENST00000285697.4	37	c.320C>G	CCDS10724.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131539	0.77662	.	.	ENSG00000155330	ENST00000285697	.	.	.	6.07	6.07	0.98685	.	0.149286	0.64402	D	0.000008	T	0.38878	0.1057	N	0.08118	0	0.36303	D	0.857139	P	0.47034	0.889	B	0.40741	0.339	T	0.51521	-0.8695	9	0.54805	T	0.06	.	20.6525	0.99598	0.0:0.0:1.0:0.0	.	107	Q6PH81	CP087_HUMAN	C	107	.	ENSP00000285697:S107C	S	-	2	0	C16orf87	45401042	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.264000	0.72527	2.890000	0.99128	0.585000	0.79938	TCT		0.338	C16orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255738.2	NM_001001436		4	169	0	0	0	1	0	4	169					C	46843541	G	C	46843541	3	2	177	1	0	0	0	0	1	0	0	0	1840	942	33	4	152	4	C16orf87	16	46843541	Missense_Mutation	SNP	G	TCGA-E8-A414-01A-11D-A23M-08		46843541	43511212	11	3738											
RTBDN	83546	broad.mit.edu	37	chr19	12940686	12940686	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatggtgttgctgggacctGgcttggagtgggcggctccc	17	11	0	0	rs149960614		TCGA-E8-A414-01A-11D-A23M-08	TCGA-E8-A414-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dd3d5c-8dbe-4adc-aa69-92fb7555b60b	ef1cce9d-bdc5-4303-9def-d252d105a958	g.chr19:12940686G>T	ENST00000458671.2	-	2	260	c.108C>A	c.(106-108)gcC>gcA	p.A36A	RTBDN_ENST00000393233.2_5'UTR|RTBDN_ENST00000322912.5_Silent_p.A68A|RTBDN_ENST00000592204.1_Silent_p.A46A|RTBDN_ENST00000589272.1_Silent_p.A68A|CTD-2265O21.3_ENST00000588469.1_RNA	NM_001080997.2	NP_001074466.1	Q9BSG5	RTBDN_HUMAN	retbindin	36						extracellular region (GO:0005576)				kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						GCTGGGACCTGGCTTGGAGTG	0.637																																						ENST00000589272.1																			0				kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						c.(202-204)gcC>gcA		retbindin		G	,	1,4405	2.1+/-5.4	0,1,2202	62	49	53		108,204	-1.4	0.0	19	dbSNP_134	53	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RTBDN	NM_001080997.1,NM_031429.1	,	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	,	36/230,68/262	12940686	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	83546					extracellular region		g.chr19:12940686G>T	AY028917	CCDS12283.1, CCDS45994.1, CCDS59355.1, CCDS59356.1	19p13	2006-03-22				ENSG00000132026			30310	protein-coding gene	gene with protein product		609553				12107411	Standard	NM_001080997		Approved	FLJ36353	uc002mvj.4	Q9BSG5		ENST00000458671.2:c.108C>A	19.37:g.12940686G>T						CTD-2265O21.3_ENST00000588469.1_RNA|RTBDN_ENST00000592204.1_Silent_p.A46A|RTBDN_ENST00000458671.2_Silent_p.A36A|RTBDN_ENST00000322912.5_Silent_p.A68A|RTBDN_ENST00000393233.2_5'UTR	p.A68A			Q9BSG5	RTBDN_HUMAN			3	533	-			36					F1T0I8|Q9BWT5	Silent	SNP	ENST00000458671.2	37	c.204C>A	CCDS45994.1																																																																																				0.637	RTBDN-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451513.1	NM_031429		9	32	1	0	2.74318e-10	1	3.06591e-10	9	32					T	12940686	G	T	12940686	2	4	177	1	0	0	0	0	0	0	0	1	13717	1335	47	4		4	RTBDN	19	12940686	Silent	SNP	G	TCGA-E8-A414-01A-11D-A23M-08		12940686	46188297	12	3739											
APOL5	80831	broad.mit.edu	37	chr22	36122619	36122619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcaggaggcagtctcatGctctcagcaactgggacagg	13	11	2	0			TCGA-E8-A414-01A-11D-A23M-08	TCGA-E8-A414-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dd3d5c-8dbe-4adc-aa69-92fb7555b60b	ef1cce9d-bdc5-4303-9def-d252d105a958	g.chr22:36122619G>A	ENST00000249044.2	+	3	504	c.504G>A	c.(502-504)atG>atA	p.M168I		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	168					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						GCAGTCTCATGCTCTCAGCAA	0.537																																						ENST00000249044.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						c.(502-504)atG>atA		apolipoprotein L, 5							68	72	71					22																	36122619		2203	4300	6503	SO:0001583	missense	80831				lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding	g.chr22:36122619G>A	AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"Apolipoproteins"	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.504G>A	22.37:g.36122619G>A	ENSP00000249044:p.Met168Ile						p.M168I	NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN			3	504	+			168					Q5TFL9|Q9UGW5	Missense_Mutation	SNP	ENST00000249044.2	37	c.504G>A	CCDS13920.1	.	.	.	.	.	.	.	.	.	.	G	1.323	-0.598831	0.03744	.	.	ENSG00000128313	ENST00000249044	T	0.02944	4.1	3.91	-1.64	0.08318	.	0.485307	0.19637	N	0.109537	T	0.01254	0.0041	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.48445	-0.9035	10	0.08599	T	0.76	.	5.572	0.17202	0.3294:0.1862:0.4844:0.0	.	168	Q9BWW9	APOL5_HUMAN	I	168	ENSP00000249044:M168I	ENSP00000249044:M168I	M	+	3	0	APOL5	34452565	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-0.426000	0.07008	-0.102000	0.12197	-0.150000	0.13652	ATG		0.537	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1	NM_030642		19	71	0	0	0	1	0	19	71					A	36122619	G	A	36122619	3	1	177	1	0	0	0	0	1	0	0	0	809	1319	46	2	514	2	APOL5	22	36122619	Missense_Mutation	SNP	G	TCGA-E8-A414-01A-11D-A23M-08		36122619	15181947	13	3740											
PDE4DIP	9659	broad.mit.edu	37	chr1	144854644	144854644	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagttccagaagttccctttCtgttgattctccctggataa	7	11	2	2			TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr1:144854644C>T	ENST00000369354.3	-	42	7015	c.6826G>A	c.(6826-6828)Gaa>Aaa	p.E2276K	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.E2412K|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E2361K|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E2276K|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E2170K			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2276					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGTTCCCTTTCTGTTGATTCT	0.478			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(7234-7236)Gaa>Aaa		phosphodiesterase 4D interacting protein							232	202	212					1																	144854644		2203	4300	6503	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144854644C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6826G>A	1.37:g.144854644C>T	ENSP00000358360:p.Glu2276Lys					PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E2276K|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E2170K|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E2361K|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.E2276K	p.E2412K			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	45	7272	-			2276					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.7234G>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	.	0.214	-1.033845	0.02029	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01215	5.16;5.26;5.23;5.23;5.24	4.0	-0.566	0.11767	.	.	.	.	.	T	0.00144	0.0004	N	0.01729	-0.75	0.20489	N	0.999898	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.33701	-0.9858	9	0.02654	T	1	.	4.437	0.11555	0.0:0.4262:0.1771:0.3967	.	2170;2276	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	K	2170;2276;2276;2361;2412	ENSP00000327209:E2170K;ENSP00000358360:E2276K;ENSP00000358363:E2276K;ENSP00000435654:E2361K;ENSP00000358366:E2412K	ENSP00000327209:E2170K	E	-	1	0	PDE4DIP	143566001	0.007000	0.16637	0.014000	0.15608	0.695000	0.40330	-0.028000	0.12350	-0.038000	0.13624	0.442000	0.29010	GAA		0.478	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		23	152	0	0	0	1	0	23	152					T	144854644	C	T	144854644	3	4	178	1	0	0	0	0	1	0	0	0	11643	922	32	2	226	2	PDE4DIP	1	144854644	Missense_Mutation	SNP	C	TCGA-E8-A415-01A-11D-A23M-08		144854644	104395977	1	3741											
NLRC4	58484	broad.mit.edu	37	chr2	32476199	32476199	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattgtagccatcaagaaggAaaagaaccctctgccgcagc	9	12	2	2			TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr2:32476199A>G	ENST00000404025.2	-	5	1222	c.734T>C	c.(733-735)tTc>tCc	p.F245S	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.F245S|NLRC4_ENST00000360906.5_Missense_Mutation_p.F245S			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	245	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Nucleotide-binding domain (NBD). {ECO:0000250}.				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)					ATCAAGAAGGAAAAGAACCCT	0.483																																						ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(733-735)tTc>tCc		NLR family, CARD domain containing 4							92	93	93					2																	32476199		2203	4300	6503	SO:0001583	missense	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.chr2:32476199A>G	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.734T>C	2.37:g.32476199A>G	ENSP00000385090:p.Phe245Ser					NLRC4_ENST00000402280.1_Missense_Mutation_p.F245S|NLRC4_ENST00000360906.5_Missense_Mutation_p.F245S|NLRC4_ENST00000342905.6_Intron	p.F245S			Q9NPP4	NLRC4_HUMAN			5	1222	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		245			NACHT.		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	c.734T>C	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	A	12.48	1.951608	0.34471	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	D;D;D	0.81821	-1.54;-1.54;-1.54	3.27	3.27	0.37495	NACHT nucleoside triphosphatase (1);	0.000000	0.49305	D	0.000143	D	0.87313	0.6146	M	0.70595	2.14	0.34608	D	0.717244	D	0.76494	0.999	D	0.85130	0.997	D	0.90811	0.4701	9	0.87932	D	0	-11.8508	11.0079	0.47646	1.0:0.0:0.0:0.0	.	245	Q9NPP4	NLRC4_HUMAN	S	245	ENSP00000354159:F245S;ENSP00000385428:F245S;ENSP00000385090:F245S	ENSP00000354159:F245S	F	-	2	0	NLRC4	32329703	1.000000	0.71417	0.116000	0.21606	0.276000	0.26787	5.037000	0.64170	1.497000	0.48584	0.443000	0.29094	TTC		0.483	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		16	111	0	0	0	1	0	16	111					G	32476199	A	G	32476199	3	3	178	1	0	0	0	0	1	0	0	0	10469	246	9	3	2364	3	NLRC4	2	32476199	Missense_Mutation	SNP	A	TCGA-E8-A415-01A-11D-A23M-08		32476199	210723174	2	3742											
ABLIM3	22885	broad.mit.edu	37	chr5	148624541	148624541	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagacccctactatgcttcGgagtctgagtactggaccta	9	13	1	2	rs563171577		TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr5:148624541G>A	ENST00000506113.1	+	15	1931	c.1449G>A	c.(1447-1449)tcG>tcA	p.S483S	ABLIM3_ENST00000356541.3_Silent_p.S372S|ABLIM3_ENST00000517451.1_5'UTR|ABLIM3_ENST00000326685.7_Silent_p.S388S|ABLIM3_ENST00000508983.1_Silent_p.S450S|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000309868.7_Silent_p.S483S|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000504238.1_Silent_p.S372S|RP11-331K21.1_ENST00000522685.1_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	483					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTATGCTTCGGAGTCTGAGT	0.547													G|||	1	0.000199681	8e-04	0	5008	,	,		18335	0		0	False		,,,				2504	0					ENST00000506113.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1447-1449)tcG>tcA		actin binding LIM protein family, member 3							114	103	107					5																	148624541		2203	4300	6503	SO:0001819	synonymous_variant	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148624541G>A	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1449G>A	5.37:g.148624541G>A						ABLIM3_ENST00000356541.3_Silent_p.S372S|ABLIM3_ENST00000504238.1_Silent_p.S372S|ABLIM3_ENST00000326685.7_Silent_p.S388S|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000517451.1_5'UTR|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000508983.1_Silent_p.S450S|ABLIM3_ENST00000309868.7_Silent_p.S483S|RP11-331K21.1_ENST00000522685.1_RNA	p.S483S			O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		15	1931	+			483					A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Silent	SNP	ENST00000506113.1	37	c.1449G>A	CCDS4294.1																																																																																				0.547	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		6	70	0	0	0	1	0	6	70					A	148624541	G	A	148624541	2	1	178	1	0	0	0	0	0	0	0	1	96	1103	39	1		1	ABLIM3	5	148624541	Silent	SNP	G	TCGA-E8-A415-01A-11D-A23M-08		148624541	32290719	3	3743											
NPSR1	387129	broad.mit.edu	37	chr7	34698077	34698077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccagtgggaccgggcagaCgctggattcttccccagtgg	14	12	1	1	rs149663215	byFrequency	TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr7:34698077C>T	ENST00000360581.1	+	1	181	c.53C>T	c.(52-54)aCg>aTg	p.T18M	AC005493.1_ENST00000399077.1_Intron|NPSR1_ENST00000465305.1_Missense_Mutation_p.T18M|NPSR1_ENST00000381539.3_Missense_Mutation_p.T18M|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000381542.1_Missense_Mutation_p.T18M|NPSR1_ENST00000381553.3_Missense_Mutation_p.T18M|NPSR1_ENST00000531252.1_Missense_Mutation_p.T18M|NPSR1_ENST00000359791.1_Missense_Mutation_p.T18M	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	18						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	ACCGGGCAGACGCTGGATTCT	0.542													C|||	2	0.000399361	0.0015	0	5008	,	,		19376	0		0	False		,,,				2504	0					ENST00000360581.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31						c.(52-54)aCg>aTg		neuropeptide S receptor 1	Halothane(DB01159)	C	MET/THR,MET/THR	2,4404	4.2+/-10.8	0,2,2201	100	92	94		53,53	0.1	0.0	7	dbSNP_134	94	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	NPSR1	NM_207172.1,NM_207173.1	81,81	0,4,6499	TT,TC,CC		0.0233,0.0454,0.0308	benign,benign	18/372,18/378	34698077	4,13002	2203	4300	6503	SO:0001583	missense	387129					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	g.chr7:34698077C>T	AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"GPCR / Class A : Neuropeptide receptors : S"	23631	protein-coding gene	gene with protein product		608595	"G protein-coupled receptor 154"	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.53C>T	7.37:g.34698077C>T	ENSP00000353788:p.Thr18Met					AC005493.1_ENST00000399077.1_Intron|NPSR1_ENST00000381553.3_Missense_Mutation_p.T18M|NPSR1_ENST00000465305.1_Missense_Mutation_p.T18M|NPSR1_ENST00000531252.1_Missense_Mutation_p.T18M|NPSR1_ENST00000381542.1_Missense_Mutation_p.T18M|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000381539.3_Missense_Mutation_p.T18M|NPSR1_ENST00000359791.1_Missense_Mutation_p.T18M	p.T18M	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN			1	181	+			18					A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Missense_Mutation	SNP	ENST00000360581.1	37	c.53C>T	CCDS5444.1	.	.	.	.	.	.	.	.	.	.	C	1.400	-0.578291	0.03854	4.54E-4	2.33E-4	ENSG00000187258	ENST00000381553;ENST00000465305;ENST00000360581;ENST00000381542;ENST00000359791;ENST00000531252;ENST00000381539	T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5	4.39	0.118	0.14667	.	0.576754	0.16289	N	0.220992	T	0.13200	0.0320	N	0.12182	0.205	0.09310	N	1	B;B;B;B;B;B	0.23185	0.081;0.013;0.011;0.013;0.029;0.017	B;B;B;B;B;B	0.14023	0.007;0.01;0.01;0.01;0.01;0.006	T	0.21930	-1.0231	10	0.25751	T	0.34	-0.986	5.4874	0.16757	0.0:0.5415:0.1478:0.3107	.	18;18;18;18;18;18	B7ZMA2;Q6W5P4-5;Q6W5P4-2;Q6W5P4-4;Q6W5P4-3;Q6W5P4	.;.;.;.;.;NPSR1_HUMAN	M	18	ENSP00000370965:T18M;ENSP00000434955:T18M;ENSP00000353788:T18M;ENSP00000370953:T18M;ENSP00000352839:T18M;ENSP00000433258:T18M;ENSP00000370950:T18M	ENSP00000352839:T18M	T	+	2	0	NPSR1	34664602	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.220000	0.09215	-0.335000	0.08451	-1.134000	0.01955	ACG		0.542	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173		18	50	0	0	0	1	0	18	50					T	34698077	C	T	34698077	3	4	178	1	0	0	0	0	1	0	0	0	10600	536	19	1	55	1	NPSR1	7	34698077	Missense_Mutation	SNP	C	TCGA-E8-A415-01A-11D-A23M-08		34698077	124440586	4	3744											
ZNF716	441234	broad.mit.edu	37	chr7	57529392	57529392	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atactggagagaaaccctacAaatgtgaagaatgtggcaaa	10	6	0	3	rs13235676	byFrequency	TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr7:57529392A>C	ENST00000420713.1	+	4	1337	c.1225A>C	c.(1225-1227)Aaa>Caa	p.K409Q		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	409					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)|kidney(1)|lung(20)|ovary(2)	24						GAAACCCTACAAATGTGAAGA	0.403													a|||	2109	0.421126	0.3215	0.4798	5008	,	,		20228	0.5397		0.3797	False		,,,				2504	0.4346					ENST00000420713.1																			0				breast(1)|kidney(1)|lung(20)|ovary(2)	24						c.(1225-1227)Aaa>Caa		zinc finger protein 716		A	GLN/LYS	479,905		82,315,295	27	27	27		1225	0.2	0.2	7	dbSNP_121	27	1251,1931		247,757,587	no	missense	ZNF716	NM_001159279.1	53	329,1072,882	CC,CA,AA		39.3149,34.6098,37.8887	benign	409/496	57529392	1730,2836	692	1591	2283	SO:0001583	missense	441234							g.chr7:57529392A>C	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"Zinc fingers, C2H2-type", "-"	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.1225A>C	7.37:g.57529392A>C	ENSP00000394248:p.Lys409Gln						p.K409Q	NM_001159279.1	NP_001152751.1					4	1337	+									Missense_Mutation	SNP	ENST00000420713.1	37	c.1225A>C	CCDS55112.1	906	0.41483516483516486	162	0.32926829268292684	158	0.43646408839779005	307	0.5367132867132867	279	0.36807387862796836	A	7.864	0.726705	0.15439	0.346098	0.393149	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.18810	2.19	0.195	0.195	0.15151	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	L	0.55743	1.74	0.52501	P	4.4000000000044004E-5	B	0.33299	0.407	B	0.30716	0.119	T	0.43750	-0.9372	8	0.49607	T	0.09	.	4.8229	0.13400	0.9998:0.0:2.0E-4:0.0	rs13235676	397	A6NP11	ZN716_HUMAN	Q	409;397	ENSP00000394248:K409Q	ENSP00000387687:K397Q	K	+	1	0	ZNF716	57533334	0.000000	0.05858	0.190000	0.23270	0.191000	0.23601	-2.138000	0.01303	0.257000	0.21650	0.254000	0.18369	AAA		0.403	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		4	45	0	0	0	1	0	4	45					C	57529392	A	C	57529392	3	2	178	1	0	0	0	0	1	0	0	0	18116	131	5	5	1239	5	ZNF716	7	57529392	Missense_Mutation	SNP	A	TCGA-E8-A415-01A-11D-A23M-08	22831315	57529392	101609271	5	3745											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		9	32	0	0	0	1	0	9	32					T	140453136	A	T	140453136	3	4	178	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E8-A415-01A-11D-A23M-08	82923744	140453136	18685527	6	3746											
FER1L6	654463	broad.mit.edu	37	chr8	125132009	125132009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttgccaggagccatcagccGaaggatcgttgtgggctcat	13	11	2	0	rs182687634	byFrequency	TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr8:125132009G>A	ENST00000522917.1	+	41	5758	c.5552G>A	c.(5551-5553)cGa>cAa	p.R1851Q	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.R1851Q	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1851						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GCCATCAGCCGAAGGATCGTT	0.453													G|||	7	0.00139776	0	0.0086	5008	,	,		20313	0		0.001	False		,,,				2504	0					ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(5551-5553)cGa>cAa		fer-1-like 6 (C. elegans)		G	GLN/ARG	2,4064		0,2,2031	170	178	175		5552	4.2	1.0	8		175	13,8359		0,13,4173	yes	missense	FER1L6	NM_001039112.2	43	0,15,6204	AA,AG,GG		0.1553,0.0492,0.1206	benign	1851/1858	125132009	15,12423	2033	4186	6219	SO:0001583	missense	654463					integral to membrane		g.chr8:125132009G>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.5552G>A	8.37:g.125132009G>A	ENSP00000428280:p.Arg1851Gln					FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.R1851Q	p.R1851Q	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		41	5758	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1851						Missense_Mutation	SNP	ENST00000522917.1	37	c.5552G>A	CCDS43767.1	4	0.0018315018315018315	0	0.0	3	0.008287292817679558	0	0.0	1	0.0013192612137203166	G	12.87	2.067555	0.36470	4.92E-4	0.001553	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.80480	-1.38;-1.38	6.03	4.24	0.50183	.	1.303970	0.05193	N	0.503432	T	0.51753	0.1693	N	0.01874	-0.695	0.33087	D	0.537383	B	0.06786	0.001	B	0.06405	0.002	T	0.53041	-0.8494	10	0.22109	T	0.4	-1.2706	9.4704	0.38839	0.2656:0.0:0.7344:0.0	.	1851	Q2WGJ9	FR1L6_HUMAN	Q	1851	ENSP00000428280:R1851Q;ENSP00000381982:R1851Q	ENSP00000381982:R1851Q	R	+	2	0	FER1L6	125201190	0.334000	0.24739	0.987000	0.45799	0.861000	0.49209	1.209000	0.32357	1.566000	0.49654	0.655000	0.94253	CGA		0.453	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		7	113	0	0	0	1	0	7	113					A	125132009	G	A	125132009	3	1	178	1	0	0	0	0	1	0	0	0	5815	1058	37	1	5710	1	FER1L6	8	125132009	Missense_Mutation	SNP	G	TCGA-E8-A415-01A-11D-A23M-08		125132009	21232013	7	3747											
ZNF169	169841	broad.mit.edu	37	chr9	97062729	97062729	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtgtgcagggaatgtgggCgacacttcaggtatacatcc	13	8	1	0	rs145151490	byFrequency	TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr9:97062729C>T	ENST00000395395.2	+	5	979	c.889C>T	c.(889-891)Cga>Tga	p.R297*	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	297					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(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				GGAATGTGGGCGACACTTCAG	0.562													C|||	2	0.000399361	0	0	5008	,	,		20375	0		0.002	False		,,,				2504	0					ENST00000395395.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(889-891)Cga>Tga		zinc finger protein 169							91	92	92					9																	97062729		2203	4300	6503	SO:0001587	stop_gained	169841					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:97062729C>T	U28322	CCDS6709.2	9q22.32	2014-07-30			ENSG00000175787	ENSG00000175787		"Zinc fingers, C2H2-type", "-"	12957	protein-coding gene	gene with protein product		603404				9186526, 9071574	Standard	NM_001301275		Approved	MGC51961	uc004aum.1	Q14929	OTTHUMG00000020264	ENST00000395395.2:c.889C>T	9.37:g.97062729C>T	ENSP00000378792:p.Arg297*					ZNF169_ENST00000340911.4_3'UTR	p.R297*	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN			5	979	+		Acute lymphoblastic leukemia(62;0.136)	297					A2AGP5|A8K127|Q6PI28	Nonsense_Mutation	SNP	ENST00000395395.2	37	c.889C>T	CCDS6709.2	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	13.37	2.216721	0.39201	.	.	ENSG00000175787	ENST00000395395;ENST00000340911	.	.	.	2.83	-1.61	0.08399	.	.	.	.	.	.	.	.	.	.	.	0.37935	D	0.932125	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	3.4135	0.07366	0.506:0.2664:0.0:0.2276	.	.	.	.	X	297;106	.	ENSP00000340711:R106X	R	+	1	2	ZNF169	96102550	0.437000	0.25593	0.155000	0.22561	0.420000	0.31355	1.414000	0.34736	-0.358000	0.08162	-0.904000	0.02843	CGA		0.562	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253714.1	NM_194320		23	79	0	0	0	1	0	23	79					T	97062729	C	T	97062729	4	4	178	1	0	0	0	0	0	1	0	0	17739	760	27	1	903	1	ZNF169	9	97062729	Nonsense_Mutation	SNP	C	TCGA-E8-A415-01A-11D-A23M-08		97062729	44150702	8	3748											
ABCA2	20	broad.mit.edu	37	chr9	139915257	139915257	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcagagggtgcgcccTcctcagcggtggcgttgggg	18	12	1	1			TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr9:139915257T>C	ENST00000371605.3	-	8	1298	c.1151A>G	c.(1150-1152)gAg>gGg	p.E384G	ABCA2_ENST00000341511.6_Missense_Mutation_p.E385G|ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000265662.5_Missense_Mutation_p.E385G			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	384					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGGTGCGCCCTCCTCAGCGGT	0.716																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(1153-1155)gAg>gGg		ATP-binding cassette, sub-family A (ABC1), member 2							7	8	8					9																	139915257		1986	4100	6086	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139915257T>C	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.1151A>G	9.37:g.139915257T>C	ENSP00000360666:p.Glu384Gly					ABCA2_ENST00000341511.6_Missense_Mutation_p.E385G|ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000371605.3_Missense_Mutation_p.E384G	p.E385G			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	9	1301	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	384					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.1154A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.50|10.50	1.368041|1.368041	0.24771|0.24771	.|.	.|.	ENSG00000107331|ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511|ENST00000470535	D;D;D|.	0.88277|.	-2.36;-2.36;-2.36|.	4.71|4.71	3.48|3.48	0.39840|0.39840	.|.	797.280000|.	0.00805|.	U|.	0.001441|.	T|T	0.43456|0.43456	0.1248|0.1248	N|N	0.24115|0.24115	0.695|0.695	0.39079|0.39079	D|D	0.960878|0.960878	B;B;B|.	0.27498|.	0.18;0.001;0.18|.	B;B;B|.	0.16722|.	0.016;0.003;0.016|.	T|T	0.35699|0.35699	-0.9778|-0.9778	10|5	0.62326|.	D|.	0.03|.	.|.	10.9607|10.9607	0.47383|0.47383	0.0:0.0:0.1568:0.8432|0.0:0.0:0.1568:0.8432	.|.	384;414;415|.	Q9BZC7;E7EU84;E7ETC3|.	ABCA2_HUMAN;.;.|.	G|G	385;384;415;385|1	ENSP00000265662:E385G;ENSP00000360666:E384G;ENSP00000344155:E385G|.	ENSP00000265662:E385G|.	E|R	-|-	2|1	0|2	ABCA2|ABCA2	139035078|139035078	1.000000|1.000000	0.71417|0.71417	0.786000|0.786000	0.31890|0.31890	0.029000|0.029000	0.11900|0.11900	3.761000|3.761000	0.55242|0.55242	1.753000|1.753000	0.51906|0.51906	0.379000|0.379000	0.24179|0.24179	GAG|AGG		0.716	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		3	12	0	0	0	1	0	3	12					C	139915257	T	C	139915257	3	2	178	1	0	0	0	0	1	0	0	0	32	1551	54	3	6320	3	ABCA2	9	139915257	Missense_Mutation	SNP	T	TCGA-E8-A415-01A-11D-A23M-08	42852528	139915257	1298174	9	3749											
USH1C	10083	broad.mit.edu	37	chr11	17531092	17531092	+	Intron	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcttgggtgggaacggatggCgggggagggatgggaatggg	24	3	1	0	rs201101932		TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr11:17531092C>G	ENST00000318024.4	-	16	1393				USH1C_ENST00000527020.1_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000005226.7_Silent_p.P608P|USH1C_ENST00000527720.1_Intron	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)						auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GAACGGATGGCGGGGGAGGGA	0.662																																						ENST00000005226.7																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						c.(1822-1824)ccG>ccC		Usher syndrome 1C (autosomal recessive, severe)							21	23	23					11																	17531092		2200	4292	6492	SO:0001627	intron_variant	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17531092C>G	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"harmonin"	605242	"deafness, autosomal recessive 18"	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1285-7565G>C	11.37:g.17531092C>G						USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000318024.4_Intron	p.P608P	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN			18	1823	-			0					A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Silent	SNP	ENST00000318024.4	37	c.1824G>C	CCDS31438.1																																																																																				0.662	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		6	32	0	0	0	1	0	6	32					G	17531092	C	G	17531092	1	3	178	0	1	0	0	0	0	0	0	0	17031	755	27	4		4	USH1C	11	17531092	Intron	SNP	C	TCGA-E8-A415-01A-11D-A23M-08		17531092	117475424	10	3750											
CYFIP1	23191	broad.mit.edu	37	chr15	22956381	22956381	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgggctttttgagtttggcAtaactaatgtaccatgtata	9	5	0	1			TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr15:22956381A>T	ENST00000435939.2	+	1	627	c.325A>T	c.(325-327)Ata>Tta	p.I109L	CYFIP1_ENST00000560848.1_Intron|CYFIP1_ENST00000313077.7_Intron	NM_001033028.1	NP_001028200.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		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;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TGAGTTTGGCATAACTAATGT	0.532																																						ENST00000435939.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(325-327)Ata>Tta		cytoplasmic FMR1 interacting protein 1							58	63	61					15																	22956381		1327	2309	3636	SO:0001583	missense	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22956381A>T	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"selective hybridizing clone", "cytoplasmic FMRP interacting protein 1"	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000435939.2:c.325A>T	15.37:g.22956381A>T	ENSP00000405956:p.Ile109Leu					CYFIP1_ENST00000560848.1_Intron|CYFIP1_ENST00000313077.7_Intron	p.I109L	NM_001033028.1	NP_001028200.1	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	1	627	+		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)	0						Missense_Mutation	SNP	ENST00000435939.2	37	c.325A>T	CCDS45189.1	.	.	.	.	.	.	.	.	.	.	A	10.38	1.334535	0.24253	.	.	ENSG00000068793	ENST00000435939	T	0.32023	1.47	5.6	-5.76	0.02376	.	.	.	.	.	T	0.13372	0.0324	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26815	-1.0092	8	0.27082	T	0.32	.	2.7817	0.05362	0.5331:0.1022:0.2031:0.1616	.	109	Q7L576-2	.	L	109	ENSP00000405956:I109L	ENSP00000405956:I109L	I	+	1	0	CYFIP1	20507822	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-0.665000	0.05286	-0.683000	0.05190	-0.230000	0.12252	ATA		0.532	CYFIP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000415634.1	NM_014608		10	47	0	0	0	1	0	10	47					T	22956381	A	T	22956381	3	4	178	1	0	0	0	0	1	0	0	0	4137	217	8	5	2057	5	CYFIP1	15	22956381	Missense_Mutation	SNP	A	TCGA-E8-A415-01A-11D-A23M-08		22956381	79575011	11	3751											
ARHGEF15	22899	broad.mit.edu	37	chr17	8216353	8216353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggtccccagggtccccCgtcgggcctccccgctgcgg	15	18	0	0	rs200249246		TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr17:8216353C>T	ENST00000361926.3	+	3	825	c.715C>T	c.(715-717)Cgt>Tgt	p.R239C	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R239C	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	239					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R239C(1)		breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CAGGGTCCCCCGTCGGGCCTC	0.706													C|||	1	0.000199681	0	0	5008	,	,		12765	0.001		0	False		,,,				2504	0					ENST00000361926.3																			1	Substitution - Missense(1)	p.R239C(1)	urinary_tract(1)	breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(715-717)Cgt>Tgt		Rho guanine nucleotide exchange factor (GEF) 15							47	58	54					17																	8216353		2203	4295	6498	SO:0001583	missense	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8216353C>T	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"Rho guanine nucleotide exchange factors"	15590	protein-coding gene	gene with protein product	"Rho guanine exchange factor (GEF) 15"	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.715C>T	17.37:g.8216353C>T	ENSP00000355026:p.Arg239Cys					ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R239C	p.R239C	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			3	825	+			239					A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	c.715C>T	CCDS11139.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	4.961	0.178488	0.09443	.	.	ENSG00000198844	ENST00000361926;ENST00000421050	T;T	0.40476	1.03;1.03	4.05	1.82	0.25136	.	0.552963	0.18083	N	0.152253	T	0.13670	0.0331	N	0.01576	-0.805	0.31170	N	0.703266	B	0.02656	0.0	B	0.01281	0.0	T	0.07927	-1.0747	10	0.38643	T	0.18	-11.9837	3.0629	0.06205	0.2093:0.1176:0.0:0.6731	.	239	O94989	ARHGF_HUMAN	C	239	ENSP00000355026:R239C;ENSP00000412505:R239C	ENSP00000355026:R239C	R	+	1	0	ARHGEF15	8157078	0.607000	0.26958	0.915000	0.36163	0.062000	0.15995	0.498000	0.22530	0.365000	0.24400	-0.367000	0.07326	CGT		0.706	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		10	147	0	0	0	1	0	10	147					T	8216353	C	T	8216353	3	4	178	1	0	0	0	0	1	0	0	0	898	652	23	1	721	1	ARHGEF15	17	8216353	Missense_Mutation	SNP	C	TCGA-E8-A415-01A-11D-A23M-08		8216353	72978857	12	3752											
UBQLN2	29978	broad.mit.edu	37	chrX	56592023	56592023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccctggctggagcaaatgctCcacagctgccgaatccagaa	10	14	0	1			TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chrX:56592023C>T	ENST00000338222.5	+	1	1998	c.1717C>T	c.(1717-1719)Cca>Tca	p.P573S		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	573					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						AGCAAATGCTCCACAGCTGCC	0.517																																					Esophageal Squamous(104;218 1492 6022 10838 28884)	ENST00000338222.5																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						c.(1717-1719)Cca>Tca		ubiquilin 2							55	46	49					X																	56592023		2203	4300	6503	SO:0001583	missense	29978					cytoplasm|nucleus|plasma membrane	binding	g.chrX:56592023C>T	AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"Ubiquilin family"	12509	protein-coding gene	gene with protein product	"NEDD4 binding protein 4"	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.1717C>T	X.37:g.56592023C>T	ENSP00000345195:p.Pro573Ser						p.P573S	NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN			1	1998	+			573					O94798|Q5D027|Q9H3W6|Q9HAZ4	Missense_Mutation	SNP	ENST00000338222.5	37	c.1717C>T	CCDS14374.1	.	.	.	.	.	.	.	.	.	.	C	2.282	-0.364482	0.05103	.	.	ENSG00000188021	ENST00000338222	T	0.40756	1.02	4.55	4.55	0.56014	.	0.178579	0.38959	N	0.001516	T	0.23014	0.0556	N	0.16567	0.415	0.29762	N	0.835495	B;B	0.14805	0.004;0.011	B;B	0.09377	0.004;0.004	T	0.11542	-1.0583	10	0.06757	T	0.87	-5.567	11.6655	0.51370	0.0:1.0:0.0:0.0	.	461;573	B4DZF1;Q9UHD9	.;UBQL2_HUMAN	S	573	ENSP00000345195:P573S	ENSP00000345195:P573S	P	+	1	0	UBQLN2	56608748	0.994000	0.37717	1.000000	0.80357	0.781000	0.44180	0.826000	0.27407	2.235000	0.73313	0.594000	0.82650	CCA		0.517	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056891.1	NM_013444		12	44	0	0	0	1	0	12	44					T	56592023	C	T	56592023	3	4	178	1	0	0	0	0	1	0	0	0	16894	855	30	2	1719	2	UBQLN2	23	56592023	Missense_Mutation	SNP	C	TCGA-E8-A415-01A-11D-A23M-08		56592023	98678537	13	3753											
CHRDL1	91851	broad.mit.edu	37	chrX	109943904	109943904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctctgttggcaggttgcCggaagatatcaccatcagaa	10	10	3	2	rs189640632		TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chrX:109943904C>T	ENST00000372045.1	-	7	697	c.566G>A	c.(565-567)cGg>cAg	p.R189Q	CHRDL1_ENST00000482160.1_Missense_Mutation_p.R116Q|CHRDL1_ENST00000394797.4_Missense_Mutation_p.R195Q|CHRDL1_ENST00000372042.1_Missense_Mutation_p.R196Q|CHRDL1_ENST00000434224.1_Missense_Mutation_p.R116Q|CHRDL1_ENST00000218054.4_Missense_Mutation_p.R195Q|CHRDL1_ENST00000444321.2_Missense_Mutation_p.R195Q			Q9BU40	CRDL1_HUMAN	chordin-like 1	189					BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|compound eye development (GO:0048749)|eye development (GO:0001654)|negative regulation of BMP signaling pathway (GO:0030514)|nervous system development (GO:0007399)|ossification (GO:0001503)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						GGCAGGTTGCCGGAAGATATC	0.398													C|||	1	0.000264901	0	0	3775	,	,		14223	0		0.001	False		,,,				2504	0					ENST00000218054.4																			0				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						c.(583-585)cGg>cAg		chordin-like 1		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,3835		0,0,1632,571	212	183	193		587,584,347,584	4.8	1.0	X		193	3,6725		0,3,2425,1872	yes	missense,missense,missense,missense	CHRDL1	NM_001143981.1,NM_001143982.1,NM_001143983.2,NM_145234.3	43,43,43,43	0,3,4057,2443	TT,TC,CC,C		0.0446,0.0,0.0284	probably-damaging,probably-damaging,probably-damaging,probably-damaging	196/459,195/458,116/379,195/457	109943904	3,10560	2203	4300	6503	SO:0001583	missense	91851				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region		g.chrX:109943904C>T	AL049176	CCDS14553.1, CCDS48148.1, CCDS48149.1, CCDS48150.1, CCDS48148.2	Xq23	2014-01-31			ENSG00000101938	ENSG00000101938			29861	protein-coding gene	gene with protein product		300350	"megalocornea 1 (X-linked)"	MGC1		11441185, 11118896, 22284829	Standard	NM_001143981		Approved	NRLN1, CHL	uc004eow.3	Q9BU40	OTTHUMG00000022199	ENST00000372045.1:c.566G>A	X.37:g.109943904C>T	ENSP00000361115:p.Arg189Gln					CHRDL1_ENST00000444321.2_Missense_Mutation_p.R195Q|CHRDL1_ENST00000482160.1_Missense_Mutation_p.R116Q|CHRDL1_ENST00000372042.1_Missense_Mutation_p.R196Q|CHRDL1_ENST00000434224.1_Missense_Mutation_p.R116Q|CHRDL1_ENST00000372045.1_Missense_Mutation_p.R189Q|CHRDL1_ENST00000394797.4_Missense_Mutation_p.R195Q	p.R195Q	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN			7	780	-			189					B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Missense_Mutation	SNP	ENST00000372045.1	37	c.584G>A		1	6.027727546714888E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	20.4	3.977990	0.74360	0.0	4.46E-4	ENSG00000101938	ENST00000372045;ENST00000434224;ENST00000218054;ENST00000394797;ENST00000372042;ENST00000482160;ENST00000444321	T;T;T;T;T;T;T	0.30448	2.28;1.54;2.28;2.28;2.54;1.53;2.28	4.75	4.75	0.60458	.	0.136602	0.47093	D	0.000255	T	0.42086	0.1187	L	0.27053	0.805	0.46356	D	0.999005	D;D;D;D;D;D	0.71674	0.998;0.997;0.997;0.997;0.997;0.997	D;D;D;D;D;D	0.70227	0.963;0.968;0.968;0.968;0.968;0.953	T	0.21827	-1.0234	9	.	.	.	-10.9729	17.6037	0.88032	0.0:1.0:0.0:0.0	.	116;195;175;189;196;116	B4DMP3;E9PGS5;Q59FB2;Q9BU40;D3DUY6;D3YTA8	.;.;.;CRDL1_HUMAN;.;.	Q	189;116;195;195;196;116;195	ENSP00000361115:R189Q;ENSP00000389627:R116Q;ENSP00000218054:R195Q;ENSP00000378276:R195Q;ENSP00000361112:R196Q;ENSP00000418443:R116Q;ENSP00000399739:R195Q	.	R	-	2	0	CHRDL1	109830560	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	5.409000	0.66374	2.282000	0.76494	0.544000	0.68410	CGG		0.398	CHRDL1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057912.1	NM_145234		4	54	0	0	0	1	0	4	54					T	109943904	C	T	109943904	3	4	178	1	0	0	0	0	1	0	0	0	3373	652	23	1	813	1	CHRDL1	23	109943904	Missense_Mutation	SNP	C	TCGA-E8-A415-01A-11D-A23M-08	53351881	109943904	45326656	14	3754											
CDCA7	83879	broad.mit.edu	37	chr2	174223463	174223463	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaagatctcagagtaaagaaGaacttaaagaaattcagata	7	4	2	6	rs139753635	byFrequency	TCGA-E8-A416-01A-11D-A23M-08	TCGA-E8-A416-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8381701-31cb-465a-bdf2-1b8132be7a14	d60fc127-2b47-4ce1-a120-f43adc2ae776	g.chr2:174223463G>A	ENST00000347703.3	+	2	189	c.45G>A	c.(43-45)aaG>aaA	p.K15K	CDCA7_ENST00000392567.2_Silent_p.K15K|CDCA7_ENST00000410019.3_Intron|CDCA7_ENST00000306721.3_Silent_p.K15K|AC092573.2_ENST00000437243.1_RNA|CDCA7_ENST00000410101.3_Silent_p.K15K	NM_145810.2	NP_665809.1	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	15					apoptotic process (GO:0006915)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			GAGTAAAGAAGAACTTAAAGA	0.328													G|||	3	0.000599042	0	0.0029	5008	,	,		19665	0		0.001	False		,,,				2504	0					ENST00000306721.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18						c.(43-45)aaG>aaA		cell division cycle associated 7		G	,	1,4405	2.1+/-5.4	0,1,2202	76	81	80		45,45	4.9	1.0	2	dbSNP_134	80	11,8589	8.4+/-32.0	0,11,4289	no	coding-synonymous,coding-synonymous	CDCA7	NM_031942.4,NM_145810.2	,	0,12,6491	AA,AG,GG		0.1279,0.0227,0.0923	,	15/451,15/372	174223463	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	83879				regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:174223463G>A	BG354580	CCDS2252.1, CCDS2253.1	2q31.1	2008-02-05			ENSG00000144354	ENSG00000144354			14628	protein-coding gene	gene with protein product		609937				11598121, 12188893	Standard	NM_145810		Approved	FLJ14736, JPO1	uc002uic.1	Q9BWT1	OTTHUMG00000132296	ENST00000347703.3:c.45G>A	2.37:g.174223463G>A						CDCA7_ENST00000392567.2_Silent_p.K15K|CDCA7_ENST00000347703.3_Silent_p.K15K|CDCA7_ENST00000410101.3_Silent_p.K15K|CDCA7_ENST00000410019.3_Intron	p.K15K	NM_031942.4	NP_114148.3	Q9BWT1	CDCA7_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.116)		2	148	+			0					B4DLP8|B4DV66|Q53EW5|Q580W9|Q658K4|Q658N4|Q8NBY9|Q96BV8|Q96SP5	Silent	SNP	ENST00000347703.3	37	c.45G>A	CCDS2253.1																																																																																				0.328	CDCA7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255400.1	NM_031942		4	58	0	0	0	1	0	4	58					A	174223463	G	A	174223463	2	1	179	1	0	0	0	0	0	0	0	1	3090	933	33	2		2	CDCA7	2	174223463	Silent	SNP	G	TCGA-E8-A416-01A-11D-A23M-08		174223463	68975910	1	3755											
MICAL1	64780	broad.mit.edu	37	chr6	109767929	109767929	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcctctatcgctgccttcCgctttgtggtctgtctgggg	14	12	3	0	rs41288556|rs552227069|rs35260632	byFrequency	TCGA-E8-A416-01A-11D-A23M-08	TCGA-E8-A416-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8381701-31cb-465a-bdf2-1b8132be7a14	d60fc127-2b47-4ce1-a120-f43adc2ae776	g.chr6:109767929C>T	ENST00000358807.3	-	18	2585	c.2274G>A	c.(2272-2274)gcG>gcA	p.A758A	MICAL1_ENST00000368952.4_Silent_p.A777A|MICAL1_ENST00000358577.3_Silent_p.A672A	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	758			A -> E (in dbSNP:rs9320288).|A -> K (requires 2 nucleotide substitutions; dbSNP:rs35260632). {ECO:0000269|PubMed:11827972, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.|A -> S (in dbSNP:rs59056467).|A -> T (in dbSNP:rs59056467).		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)		CGCTGCCTTCCGCTTTGTGGT	0.572													C|||	23	0.00459265	0	0.0072	5008	,	,		18546	0		0.0109	False		,,,				2504	0.0072					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.(2329-2331)gcG>gcA		microtubule associated monooxygenase, calponin and LIM domain containing 1		C	,	7,4399	12.9+/-30.5	0,7,2196	78	69	72		2016,2274	-2.7	0.0	6	dbSNP_127	72	116,8484	59.1+/-120.7	2,112,4186	no	coding-synonymous,coding-synonymous	MICAL1	NM_001159291.1,NM_022765.3	,	2,119,6382	TT,TC,CC		1.3488,0.1589,0.9457	,	672/982,758/1068	109767929	123,12883	2203	4300	6503	SO:0001819	synonymous_variant	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109767929C>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.2274G>A	6.37:g.109767929C>T						MICAL1_ENST00000358577.3_Silent_p.A672A|MICAL1_ENST00000358807.3_Silent_p.A758A	p.A777A			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)	18	2621	-		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)	758					B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Silent	SNP	ENST00000358807.3	37	c.2331G>A	CCDS5076.1																																																																																				0.572	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		3	21	0	0	0	1	0	3	21					T	109767929	C	T	109767929	2	4	179	1	0	0	0	0	0	0	0	1	9569	639	23	1		1	MICAL1	6	109767929	Silent	SNP	C	TCGA-E8-A416-01A-11D-A23M-08		109767929	61347138	2	3756											
ANKRD30B	374860	broad.mit.edu	37	chr18	14752601	14752601	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtgtcaatggccatgcAgaagtagtaacatttctggt	11	8	2	1	rs200428778	byFrequency	TCGA-E8-A416-01A-11D-A23M-08	TCGA-E8-A416-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8381701-31cb-465a-bdf2-1b8132be7a14	d60fc127-2b47-4ce1-a120-f43adc2ae776	g.chr18:14752601A>G	ENST00000358984.4	+	2	438	c.258A>G	c.(256-258)gcA>gcG	p.A86A	ANKRD30B_ENST00000447268.2_Silent_p.A86A|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	86										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ATGGCCATGCAGAAGTAGTAA	0.448													a|||	12	0.00239617	8e-04	0	5008	,	,		17952	0		0.0099	False		,,,				2504	0.001					ENST00000358984.4																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(256-258)gcA>gcG		ankyrin repeat domain 30B		A		1,1383		0,1,691	69	61	64		258	-3.2	0.0	18		64	16,3166		0,16,1575	no	coding-synonymous	ANKRD30B	NM_001145029.1		0,17,2266	GG,GA,AA		0.5028,0.0723,0.3723		86/1393	14752601	17,4549	692	1591	2283	SO:0001819	synonymous_variant	374860							g.chr18:14752601A>G	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"Ankyrin repeat domain containing"	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.258A>G	18.37:g.14752601A>G						ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Silent_p.A86A	p.A86A	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			2	438	+			86					B4DGP1|F8WAG3|Q4G175	Silent	SNP	ENST00000358984.4	37	c.258A>G	CCDS54182.1																																																																																				0.448	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		3	26	0	0	0	1	0	3	26					G	14752601	A	G	14752601	2	3	179	1	0	0	0	0	0	0	0	1	659	175	7	3		3	ANKRD30B	18	14752601	Silent	SNP	A	TCGA-E8-A416-01A-11D-A23M-08		14752601	63324647	3	3757											
PUSL1	126789	broad.mit.edu	37	chr1	1245216	1245216	+	Frame_Shift_Del	DEL	C	C	-													ccaagccagccccttggtcaCccccgaggagagcaggtgag							TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr1:1245216delC	ENST00000379031.5	+	5	706	c.629delC	c.(628-630)accfs	p.T210fs	PUSL1_ENST00000470520.1_3'UTR|CPSF3L_ENST00000462432.1_5'Flank|ACAP3_ENST00000354700.5_5'Flank|ACAP3_ENST00000353662.3_5'Flank	NM_153339.1	NP_699170.1	Q8N0Z8	PUSL1_HUMAN	pseudouridylate synthase-like 1	210					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			lung(3)|skin(1)|urinary_tract(1)	5	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;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCCTTGGTCACCCCCGAGGAG	0.667																																						ENST00000379031.5																			0				lung(3)|skin(1)|urinary_tract(1)	5						c.(628-630)acfs		pseudouridylate synthase-like 1							7	10	9					1																	1245216		2107	4120	6227	SO:0001589	frameshift_variant	126789				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr1:1245216delC	AK027721	CCDS20.1	1p36.33	2008-02-05			ENSG00000169972	ENSG00000169972			26914	protein-coding gene	gene with protein product						12477932	Standard	NM_153339		Approved	FLJ90811	uc001aed.3	Q8N0Z8	OTTHUMG00000003361	ENST00000379031.5:c.629delC	1.37:g.1245216delC	ENSP00000368318:p.Thr210fs					PUSL1_ENST00000470520.1_3'UTR	p.T210fs	NM_153339.1	NP_699170.1	Q8N0Z8	PUSL1_HUMAN		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	5	706	+	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)	210					B4DP76|Q5TA41	Frame_Shift_Del	DEL	ENST00000379031.5	37	c.629delC	CCDS20.1																																																																																				0.667	PUSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009438.1	NM_153339		2	4						2	4	---	---	---	---	-	1245216	C	-	1245216	7	5	180	1	0	1	0	1	0	0	0	0	12835	507	18	0	647	0	PUSL1	1	1245216	Frame_Shift_Del	DEL	C	TCGA-E8-A417-01A-21D-A23M-08		1245216	248005405	1	3758											
KLHDC7A	127707	broad.mit.edu	37	chr1	18807628	18807628	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccagcggtggggtgggaaTggccaggcagaagccaagga	19	9	0	1			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr1:18807628T>C	ENST00000400664.1	+	1	205	c.153T>C	c.(151-153)aaT>aaC	p.N51N		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	51						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGGGTGGGAATGGCCAGGCAG	0.667																																						ENST00000400664.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(151-153)aaT>aaC		kelch domain containing 7A							24	28	27					1																	18807628		2012	4175	6187	SO:0001819	synonymous_variant	127707					integral to membrane		g.chr1:18807628T>C	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.153T>C	1.37:g.18807628T>C							p.N51N	NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	205	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	51					Q8N8W6	Silent	SNP	ENST00000400664.1	37	c.153T>C	CCDS185.2																																																																																				0.667	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		6	43	0	0	0	1	0	6	43					C	18807628	T	C	18807628	2	2	180	1	0	0	0	0	0	0	0	1	8360	1461	51	3		3	KLHDC7A	1	18807628	Silent	SNP	T	TCGA-E8-A417-01A-21D-A23M-08	17562412	18807628	230442993	2	3759											
IGSF3	3321	broad.mit.edu	37	chr1	117142736	117142736	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctggactcagccttctcgAtggcagttcgggttcggaag	14	10	2	0	rs138851517	byFrequency	TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr1:117142736A>G	ENST00000369486.3	-	7	2621	c.1856T>C	c.(1855-1857)aTc>aCc	p.I619T	IGSF3_ENST00000318837.6_Missense_Mutation_p.I639T|IGSF3_ENST00000369483.1_Missense_Mutation_p.I639T	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	619	Ig-like C2-type 5.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGCCTTCTCGATGGCAGTTCG	0.627													A|||	10	0.00199681	0.0023	0.0029	5008	,	,		16651	0.001		0.001	False		,,,				2504	0.0031					ENST00000369486.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62						c.(1855-1857)aTc>aCc		immunoglobulin superfamily, member 3																																				SO:0001583	missense	3321					integral to membrane		g.chr1:117142736A>G	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1856T>C	1.37:g.117142736A>G	ENSP00000358498:p.Ile619Thr					IGSF3_ENST00000318837.6_Missense_Mutation_p.I639T|IGSF3_ENST00000369483.1_Missense_Mutation_p.I639T	p.I619T	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	7	2621	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	619			Ig-like C2-type 5.		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	c.1856T>C	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	A	16.34	3.096884	0.56075	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.15256	2.44;2.44;2.44	4.8	4.8	0.61643	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.132915	0.52532	D	0.000079	T	0.06096	0.0158	N	0.19112	0.55	0.48571	D	0.999675	B;B;B	0.30914	0.162;0.3;0.195	B;B;B	0.33454	0.069;0.164;0.114	T	0.16837	-1.0389	10	0.51188	T	0.08	-37.2914	12.3358	0.55067	1.0:0.0:0.0:0.0	.	639;619;639	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	T	619;639;639	ENSP00000358498:I619T;ENSP00000358495:I639T;ENSP00000321184:I639T	ENSP00000321184:I639T	I	-	2	0	IGSF3	116944259	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.960000	0.76036	2.001000	0.58596	0.374000	0.22700	ATC		0.627	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		5	58	0	0	0	1	0	5	58					G	117142736	A	G	117142736	3	3	180	1	0	0	0	0	1	0	0	0	7601	333	12	3	1748	3	IGSF3	1	117142736	Missense_Mutation	SNP	A	TCGA-E8-A417-01A-21D-A23M-08	98335108	117142736	132107885	3	3760											
CR1	1378	broad.mit.edu	37	chr1	207741322	207741322	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattggagagagcaccatccGctgcacaagtgaccctcaag	10	13	1	2	rs374276678		TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr1:207741322G>T	ENST00000367049.4	+	25	4106	c.4106G>T	c.(4105-4107)cGc>cTc	p.R1369L	RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367051.1_Missense_Mutation_p.R919L|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000400960.2_Missense_Mutation_p.R919L|CR1_ENST00000367053.1_Missense_Mutation_p.R919L|CR1_ENST00000367052.1_Intron	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	919	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGCACCATCCGCTGCACAAGT	0.547																																						ENST00000367049.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(4105-4107)cGc>cTc		complement component (3b/4b) receptor 1 (Knops blood group)							86	103	98					1																	207741322		1809	4081	5890	SO:0001583	missense	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207741322G>T	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.4106G>T	1.37:g.207741322G>T	ENSP00000356016:p.Arg1369Leu					CR1_ENST00000367052.1_Intron|CR1_ENST00000400960.2_Missense_Mutation_p.R919L|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367051.1_Missense_Mutation_p.R919L|CR1_ENST00000367053.1_Missense_Mutation_p.R919L	p.R1369L	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			25	4106	+			919			Sushi 21.		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	c.4106G>T	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	g	17.86	3.493681	0.64186	.	.	ENSG00000203710	ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	2.73	-3.13	0.05266	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.64649	0.2617	M	0.62723	1.935	0.09310	N	1	P;D;P;D	0.69078	0.513;0.995;0.81;0.997	P;D;B;D	0.80764	0.652;0.987;0.361;0.994	T	0.56050	-0.8043	9	0.10377	T	0.69	.	2.6059	0.04878	0.3875:0.0:0.2508:0.3617	.	919;469;919;1369	Q5SR44;E9PQN4;P17927;E9PDY4	.;.;CR1_HUMAN;.	L	919;919;919;1369	ENSP00000356018:R919L;ENSP00000356020:R919L;ENSP00000383744:R919L;ENSP00000356016:R1369L	ENSP00000356016:R1369L	R	+	2	0	CR1	205807945	0.000000	0.05858	0.052000	0.19188	0.908000	0.53690	-0.913000	0.04042	-0.793000	0.04475	0.491000	0.48974	CGC		0.547	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		13	165	1	0	4.3838e-07	1	4.6522e-07	13	165					T	207741322	G	T	207741322	3	4	180	1	0	0	0	0	1	0	0	0	3840	1087	38	4	4204	4	CR1	1	207741322	Missense_Mutation	SNP	G	TCGA-E8-A417-01A-21D-A23M-08	90598586	207741322	41509299	4	3761											
LTBP1	4052	broad.mit.edu	37	chr2	33246141	33246141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcttcctcgtggggccCtcctgagcaagcagcaaagc	13	14	0	1			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr2:33246141C>T	ENST00000404816.2	+	3	1084	c.731C>T	c.(730-732)cCt>cTt	p.P244L	LTBP1_ENST00000354476.3_Missense_Mutation_p.P244L			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	244					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TCGTGGGGCCCTCCTGAGCAA	0.572																																						ENST00000404816.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(730-732)cCt>cTt		latent transforming growth factor beta binding protein 1							108	111	110					2																	33246141		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33246141C>T		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"Latent transforming growth factor, beta binding proteins"	6714	protein-coding gene	gene with protein product	"TGF-beta1-BP-1"	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.731C>T	2.37:g.33246141C>T	ENSP00000386043:p.Pro244Leu					LTBP1_ENST00000354476.3_Missense_Mutation_p.P244L	p.P244L			Q14766	LTBP1_HUMAN			3	1084	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	244					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.731C>T	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	C	8.878	0.950866	0.18431	.	.	ENSG00000049323	ENST00000404816;ENST00000354476	T;T	0.80033	-1.33;-1.31	4.99	1.62	0.23740	.	.	.	.	.	T	0.57373	0.2049	N	0.08118	0	0.18873	N	0.999984	B	0.02656	0.0	B	0.04013	0.001	T	0.44967	-0.9293	9	0.39692	T	0.17	.	2.0464	0.03561	0.2458:0.3406:0.0:0.4136	.	244	Q14766-4	.	L	244	ENSP00000386043:P244L;ENSP00000346467:P244L	ENSP00000346467:P244L	P	+	2	0	LTBP1	33099645	0.593000	0.26840	0.084000	0.20598	0.479000	0.33129	4.423000	0.59861	0.596000	0.29794	-0.203000	0.12734	CCT		0.572	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		6	206	0	0	0	1	0	6	206					T	33246141	C	T	33246141	3	4	180	1	0	0	0	0	1	0	0	0	9073	681	24	2	741	2	LTBP1	2	33246141	Missense_Mutation	SNP	C	TCGA-E8-A417-01A-21D-A23M-08		33246141	209953232	5	3762											
THSD7B	80731	broad.mit.edu	37	chr2	137814301	137814301	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcattcagaagctgaacCgaactgtggttgcaaatgaa	11	8	1	3			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr2:137814301C>T	ENST00000409968.1	+	3	629	c.451C>T	c.(451-453)Cga>Tga	p.R151*	THSD7B_ENST00000543459.1_Nonsense_Mutation_p.R10*|THSD7B_ENST00000272643.3_Nonsense_Mutation_p.R151*|THSD7B_ENST00000413152.2_Nonsense_Mutation_p.R120*			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	151	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GAAGCTGAACCGAACTGTGGT	0.537																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(451-453)Cga>Tga		thrombospondin, type I, domain containing 7B							107	111	110					2																	137814301		2024	4191	6215	SO:0001587	stop_gained	80731							g.chr2:137814301C>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.451C>T	2.37:g.137814301C>T	ENSP00000387145:p.Arg151*					THSD7B_ENST00000543459.1_Nonsense_Mutation_p.R10*|THSD7B_ENST00000272643.3_Nonsense_Mutation_p.R151*|THSD7B_ENST00000413152.2_Nonsense_Mutation_p.R120*	p.R151*						BRCA - Breast invasive adenocarcinoma(221;0.19)	3	629	+									Nonsense_Mutation	SNP	ENST00000409968.1	37	c.451C>T		.	.	.	.	.	.	.	.	.	.	C	26.7	4.761113	0.89932	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152;ENST00000543459	.	.	.	6.07	3.78	0.43462	.	0.083098	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	8.6851	0.34232	0.6284:0.2996:0.0719:0.0	.	.	.	.	X	151;151;120;10	.	ENSP00000272643:R151X	R	+	1	2	THSD7B	137530771	0.881000	0.30235	1.000000	0.80357	0.820000	0.46376	0.579000	0.23788	1.117000	0.41842	-0.375000	0.07067	CGA		0.537	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		20	90	0	0	0	1	0	20	90					T	137814301	C	T	137814301	4	4	180	1	0	0	0	0	0	1	0	0	15877	644	23	1	364	1	THSD7B	2	137814301	Nonsense_Mutation	SNP	C	TCGA-E8-A417-01A-21D-A23M-08	104568160	137814301	105385072	6	3763											
ABCB11	8647	broad.mit.edu	37	chr2	169801203	169801203	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaaccaggcaatatcttgcCccagcattgccctgaaacca	6	15	1	1			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr2:169801203C>A	ENST00000263817.6	-	21	2646	c.2522G>T	c.(2521-2523)gGg>gTg	p.G841V		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	841	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	AATATCTTGCCCCAGCATTGC	0.458																																						ENST00000263817.6																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57						c.(2521-2523)gGg>gTg		ATP-binding cassette, sub-family B (MDR/TAP), member 11	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						143	133	136					2																	169801203		1881	4112	5993	SO:0001583	missense	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169801203C>A	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"ATP binding cassette transporters / subfamily B"	42	protein-coding gene	gene with protein product	"ABC member 16, MDR/TAP subfamily"	603201	"progressive familial intrahepatic cholestasis 2", "bile salt export pump"	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.2522G>T	2.37:g.169801203C>A	ENSP00000263817:p.Gly841Val						p.G841V	NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN			21	2646	-			841			ABC transmembrane type-1 2.		Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	c.2522G>T	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972598	0.74246	.	.	ENSG00000073734	ENST00000263817	D	0.89552	-2.53	5.96	5.96	0.96718	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.044268	0.85682	D	0.000000	D	0.92344	0.7571	L	0.39898	1.24	0.80722	D	1	D;D	0.67145	0.981;0.996	P;D	0.68483	0.832;0.958	D	0.92217	0.5781	10	0.62326	D	0.03	.	20.394	0.98981	0.0:1.0:0.0:0.0	.	283;841	B4DZQ8;O95342	.;ABCBB_HUMAN	V	841	ENSP00000263817:G841V	ENSP00000263817:G841V	G	-	2	0	ABCB11	169509449	0.994000	0.37717	1.000000	0.80357	0.995000	0.86356	3.850000	0.55918	2.815000	0.96918	0.650000	0.86243	GGG		0.458	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		12	181	1	0	6.40141e-05	1	6.65747e-05	12	181					A	169801203	C	A	169801203	3	1	180	1	0	0	0	0	1	0	0	0	42	623	22	4	1475	4	ABCB11	2	169801203	Missense_Mutation	SNP	C	TCGA-E8-A417-01A-21D-A23M-08	31986902	169801203	73398170	7	3764											
TTN	7273	broad.mit.edu	37	chr2	179482973	179482973	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tactggctcaccagtgccaaCtctgtttcttgcactcacac	6	15	4	0			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr2:179482973C>G	ENST00000591111.1	-	202	42513	c.42289G>C	c.(42289-42291)Gtt>Ctt	p.V14097L	TTN-AS1_ENST00000604956.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V6865L|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V13170L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V6798L|TTN_ENST00000460472.2_Missense_Mutation_p.V6673L|TTN_ENST00000589042.1_Missense_Mutation_p.V15738L			Q8WZ42	TITIN_HUMAN	titin	14097	Fibronectin type-III 1. {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)			CCAGTGCCAACTCTGTTTCTT	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.(47212-47214)Gtt>Ctt		titin							164	161	162					2																	179482973		1932	4139	6071	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179482973C>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.42289G>C	2.37:g.179482973C>G	ENSP00000465570:p.Val14097Leu					TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V6865L|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V6673L|TTN_ENST00000359218.5_Missense_Mutation_p.V6798L|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V14097L|TTN_ENST00000342992.6_Missense_Mutation_p.V13170L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA	p.V15738L	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)		252	47436	-			14097			Fibronectin type-III 14.		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.47212G>C		.	.	.	.	.	.	.	.	.	.	C	15.12	2.738136	0.49045	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.6	5.6	0.85130	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67230	0.2871	L	0.41027	1.25	0.58432	D	0.999999	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.80764	0.994;0.994;0.994;0.994	T	0.68269	-0.5453	9	0.87932	D	0	.	19.982	0.97329	0.0:1.0:0.0:0.0	.	6673;6798;6865;14097	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	13170;6673;6865;6798;6673	ENSP00000343764:V13170L;ENSP00000434586:V6673L;ENSP00000340554:V6865L;ENSP00000352154:V6798L	ENSP00000340554:V6865L	V	-	1	0	TTN	179191218	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.729000	0.84864	2.798000	0.96311	0.650000	0.86243	GTT		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	157	0	0	0	1	0	11	157					G	179482973	C	G	179482973	3	3	180	1	0	0	0	0	1	0	0	0	16732	565	20	4	60925	4	TTN	2	179482973	Missense_Mutation	SNP	C	TCGA-E8-A417-01A-21D-A23M-08	9681770	179482973	63716400	8	3765											
GAL3ST2	64090	broad.mit.edu	37	chr2	242742868	242742868	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacctacgcccccgccttcCggggcgccccgagcctggac	11	20	0	0			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr2:242742868C>T	ENST00000192314.6	+	4	615	c.484C>T	c.(484-486)Cgg>Tgg	p.R162W	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	162					biosynthetic process (GO:0009058)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		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;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-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;0.0833)		CCCCGCCTTCCGGGGCGCCCC	0.602																																						ENST00000192314.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14						c.(484-486)Cgg>Tgg		galactose-3-O-sulfotransferase 2							29	30	30					2																	242742868		2202	4298	6500	SO:0001583	missense	64090				biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	g.chr2:242742868C>T	AB040610	CCDS33427.1	2q37.2	2014-05-19			ENSG00000154252	ENSG00000154252		"Sulfotransferases, membrane-bound"	24869	protein-coding gene	gene with protein product		608237				11029462	Standard	NM_022134		Approved	GP3ST	uc002wcj.1	Q9H3Q3	OTTHUMG00000151473	ENST00000192314.6:c.484C>T	2.37:g.242742868C>T	ENSP00000192314:p.Arg162Trp						p.R162W	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-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;0.0833)	4	615	+		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)	162					Q17RK0|Q57Z52	Missense_Mutation	SNP	ENST00000192314.6	37	c.484C>T	CCDS33427.1	.	.	.	.	.	.	.	.	.	.	c	16.21	3.057735	0.55325	.	.	ENSG00000154252	ENST00000192314	T	0.16196	2.36	3.86	-0.825	0.10809	.	1.159560	0.06386	N	0.716150	T	0.31888	0.0811	M	0.77486	2.375	0.09310	N	1	D	0.56746	0.977	P	0.56042	0.79	T	0.20338	-1.0278	10	0.72032	D	0.01	-21.2259	4.0026	0.09587	0.4789:0.3334:0.0992:0.0884	.	162	Q9H3Q3	G3ST2_HUMAN	W	162	ENSP00000192314:R162W	ENSP00000192314:R162W	R	+	1	2	GAL3ST2	242391541	0.000000	0.05858	0.040000	0.18447	0.023000	0.10783	0.117000	0.15583	-0.333000	0.08476	0.455000	0.32223	CGG		0.602	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322792.1	NM_022134		6	23	0	0	0	1	0	6	23					T	242742868	C	T	242742868	3	4	180	1	0	0	0	0	1	0	0	0	6198	643	23	1	498	1	GAL3ST2	2	242742868	Missense_Mutation	SNP	C	TCGA-E8-A417-01A-21D-A23M-08	63259895	242742868	456505	9	3766											
ECE2	9718	broad.mit.edu	37	chr3	183975407	183975407	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgggagaccatggatgtgCggaagctggacttccccagt	15	10	0	1	rs146338541		TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr3:183975407C>T	ENST00000402825.3	+	2	343	c.343C>T	c.(343-345)Cgg>Tgg	p.R115W	ECE2_ENST00000324557.4_Missense_Mutation_p.R115W|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	115	Methyltransferase-like region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CATGGATGTGCGGAAGCTGGA	0.612																																						ENST00000402825.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49						c.(343-345)Cgg>Tgg		endothelin converting enzyme 2		C	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	72	68	69		343,343	5.0	0.1	3	dbSNP_134	69	0,8600		0,0,4300	no	missense,missense	ECE2	NM_014693.3,NM_032331.3	101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	115/884,115/256	183975407	1,13005	2203	4300	6503	SO:0001583	missense	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:183975407C>T	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.343C>T	3.37:g.183975407C>T	ENSP00000384223:p.Arg115Trp					ECE2_ENST00000324557.4_Missense_Mutation_p.R115W|EIF2B5_ENST00000444495.1_Intron	p.R115W	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		2	343	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		115			Methyltransferase-like region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.343C>T	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	C	16.84	3.233974	0.58886	2.27E-4	0.0	ENSG00000145194	ENST00000324557;ENST00000402825	T;T	0.64803	-0.12;-0.12	5.88	5.01	0.66863	Methyltransferase type 11 (1);	.	.	.	.	D	0.84070	0.5391	M	0.93638	3.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.88038	0.2779	9	0.56958	D	0.05	-7.882	15.6572	0.77150	0.138:0.8619:0.0:0.0	.	115;115	O60344;O60344-4	ECE2_HUMAN;.	W	115	ENSP00000314295:R115W;ENSP00000384223:R115W	ENSP00000314295:R115W	R	+	1	2	ECE2	185458101	0.999000	0.42202	0.139000	0.22197	0.232000	0.25224	4.142000	0.58044	1.487000	0.48415	-0.152000	0.13540	CGG		0.612	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		26	39	0	0	0	1	0	26	39					T	183975407	C	T	183975407	3	4	180	1	0	0	0	0	1	0	0	0	4890	759	27	1	349	1	ECE2	3	183975407	Missense_Mutation	SNP	C	TCGA-E8-A417-01A-21D-A23M-08		183975407	14047023	10	3767											
PDZD2	23037	broad.mit.edu	37	chr5	32058048	32058048	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggtgagccccagcctcacacCctgctcgacacccacacaca	7	20	1	1			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr5:32058048C>G	ENST00000438447.1	+	12	2427	c.2039C>G	c.(2038-2040)cCc>cGc	p.P680R	PDZD2_ENST00000282493.3_Missense_Mutation_p.P680R			O15018	PDZD2_HUMAN	PDZ domain containing 2	680					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGCCTCACACCCTGCTCGACA	0.532											OREG0016543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(2038-2040)cCc>cGc		PDZ domain containing 2							67	59	62					5																	32058048		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32058048C>G	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.2039C>G	5.37:g.32058048C>G	ENSP00000402033:p.Pro680Arg		OREG0016543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	829	PDZD2_ENST00000282493.3_Missense_Mutation_p.P680R	p.P680R			O15018	PDZD2_HUMAN			12	2427	+			680					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.2039C>G	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644444	0.67244	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.09255	3.0;3.0	6.06	5.2	0.72013	PDZ/DHR/GLGF (1);	0.000000	0.46442	D	0.000295	T	0.22085	0.0532	L	0.32530	0.975	0.54753	D	0.999982	D;D	0.89917	0.998;1.0	D;D	0.72625	0.975;0.978	T	0.01056	-1.1466	10	0.66056	D	0.02	.	13.1409	0.59434	0.0:0.9233:0.0:0.0767	.	506;680	B4E3P2;O15018	.;PDZD2_HUMAN	R	680;499;680	ENSP00000402033:P680R;ENSP00000282493:P680R	ENSP00000282493:P680R	P	+	2	0	PDZD2	32093805	1.000000	0.71417	0.990000	0.47175	0.482000	0.33219	7.194000	0.77789	1.583000	0.49898	-0.142000	0.14014	CCC		0.532	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			10	82	0	0	0	1	0	10	82					G	32058048	C	G	32058048	3	3	180	1	0	0	0	0	1	0	0	0	11701	623	22	4	2081	4	PDZD2	5	32058048	Missense_Mutation	SNP	C	TCGA-E8-A417-01A-21D-A23M-08		32058048	148857212	11	3768											
DHX29	54505	broad.mit.edu	37	chr5	54565249	54565249	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtttgacttaccactgggtCaaggcagccaaatatggcac	10	10	1	1			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr5:54565249C>T	ENST00000251636.5	-	21	3434	c.3286G>A	c.(3286-3288)Gac>Aac	p.D1096N	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	1096						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				ACCACTGGGTCAAGGCAGCCA	0.388																																						ENST00000251636.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46						c.(3286-3288)Gac>Aac		DEAH (Asp-Glu-Ala-His) box polypeptide 29							78	72	74					5																	54565249		2203	4300	6503	SO:0001583	missense	54505						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	g.chr5:54565249C>T	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"DEAH-boxes"	15815	protein-coding gene	gene with protein product		612720	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.3286G>A	5.37:g.54565249C>T	ENSP00000251636:p.Asp1096Asn					RP11-506H20.1_ENST00000506435.1_RNA	p.D1096N	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN			21	3434	-		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)	1096					O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	ENST00000251636.5	37	c.3286G>A	CCDS34158.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.033964	0.93575	.	.	ENSG00000067248	ENST00000251636	T	0.34275	1.37	5.72	5.72	0.89469	Helicase-associated domain (2);	0.137098	0.64402	D	0.000004	T	0.35913	0.0948	L	0.38531	1.155	0.53688	D	0.999973	B	0.33841	0.428	B	0.35899	0.213	T	0.10520	-1.0626	10	0.49607	T	0.09	.	19.8946	0.96949	0.0:1.0:0.0:0.0	.	1096	Q7Z478	DHX29_HUMAN	N	1096	ENSP00000251636:D1096N	ENSP00000251636:D1096N	D	-	1	0	DHX29	54601006	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.456000	0.80751	2.711000	0.92665	0.655000	0.94253	GAC		0.388	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030		4	39	0	0	0	1	0	4	39					T	54565249	C	T	54565249	3	4	180	1	0	0	0	0	1	0	0	0	4503	826	29	2	851	2	DHX29	5	54565249	Missense_Mutation	SNP	C	TCGA-E8-A417-01A-21D-A23M-08	22507201	54565249	126350011	12	3769											
HIVEP2	3097	broad.mit.edu	37	chr6	143091947	143091947	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttcttgaagaacctgctcaGagggcgtttcagttgactta	10	9	3	4			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr6:143091947G>A	ENST00000367604.1	-	4	4568	c.3929C>T	c.(3928-3930)tCt>tTt	p.S1310F	HIVEP2_ENST00000367603.2_Missense_Mutation_p.S1310F|HIVEP2_ENST00000012134.2_Missense_Mutation_p.S1310F			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1310					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(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AACCTGCTCAGAGGGCGTTTC	0.507																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			0				NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(3928-3930)tCt>tTt		human immunodeficiency virus type I enhancer binding protein 2							140	140	140					6																	143091947		1915	4126	6041	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143091947G>A	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.3929C>T	6.37:g.143091947G>A	ENSP00000356576:p.Ser1310Phe					HIVEP2_ENST00000367604.1_Missense_Mutation_p.S1310F|HIVEP2_ENST00000012134.2_Missense_Mutation_p.S1310F	p.S1310F	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	5	4671	-			1310					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.3929C>T	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	7.794	0.712123	0.15306	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02763	4.17;4.17;4.17	5.97	5.97	0.96955	.	0.449425	0.27730	N	0.018084	T	0.02083	0.0065	L	0.55481	1.735	0.31786	N	0.630325	B	0.16396	0.017	B	0.08055	0.003	T	0.45848	-0.9233	10	0.24483	T	0.36	-14.3537	20.428	0.99075	0.0:0.0:1.0:0.0	.	1310	P31629	ZEP2_HUMAN	F	1310	ENSP00000356576:S1310F;ENSP00000356575:S1310F;ENSP00000012134:S1310F	ENSP00000012134:S1310F	S	-	2	0	HIVEP2	143133640	0.998000	0.40836	0.791000	0.31998	0.582000	0.36321	2.899000	0.48679	2.837000	0.97791	0.655000	0.94253	TCT		0.507	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			5	233	0	0	0	1	0	5	233					A	143091947	G	A	143091947	3	1	180	1	0	0	0	0	1	0	0	0	7187	942	33	2	3435	2	HIVEP2	6	143091947	Missense_Mutation	SNP	G	TCGA-E8-A417-01A-21D-A23M-08		143091947	28023120	13	3770											
TMEM184A	202915	broad.mit.edu	37	chr7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC													ctcccgccggagccgccgctINSggggtgggtgccgggcctgg					rs3837151|rs3779607	byFrequency	TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)cccagc>cccGGCagc	p.389_390PS>PGS	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389			S -> G (in dbSNP:rs3779607). {ECO:0000269|PubMed:15489334}.		germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(1165-1170)ccgcgg>ccGGCgcgg		transmembrane protein 184A				1912,2170		535,842,664						-3.6	0.0		dbSNP_132	17	3872,4214		1028,1816,1199	no	coding	TMEM184A	NM_001097620.1		1563,2658,1863	A1A1,A1R,RR		47.8852,46.8398,47.5345				5784,6384				SO:0001652	inframe_insertion	202915					integral to membrane		g.chr7:1586662_1586663insGCC		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1167_1168insGGC	7.37:g.1586662_1586663insGCC	ENSP00000297477:p.Pro389_Ser390insGly						p.389_390PR>PAR	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	9	1483_1484	-		Ovarian(82;0.0253)	389					Q8TBQ6	In_Frame_Ins	INS	ENST00000297477.5	37	c.1167_1168insGGC	CCDS43537.1																																																																																				0.703	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		10	50						10	50	---	---	---	---	GCC	1586663	-	GCC	1586662	7	5	180	1	0	1	1	0	0	0	0	0	16101	1580	55	0	77	0	TMEM184A	7	1586662	In_Frame_Ins	INS	-	TCGA-E8-A417-01A-21D-A23M-08		1586662	157552001	14	3771											
ZAN	7455	broad.mit.edu	37	chr7	100349694	100349694	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccacagaaaaacccaccGtccccacagaagagcccacc	5	18	0	3	rs13241331	byFrequency	TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr7:100349694G>A	ENST00000348028.3	+	0	2131				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_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)			AAAACCCACCGTCCCCACAGA	0.517													g|||	4	0.000798722	0	0.0014	5008	,	,		15252	0.001		0.001	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)		G	ILE/VAL,ILE/VAL	0,3774		0,0,1887	208	233	225		1966,1966	-3.9	0.0	7	dbSNP_121	225	1,8235		0,1,4117	no	missense,missense	ZAN	NM_173059.1,NM_003386.1	29,29	0,1,6004	AA,AG,GG		0.0121,0.0,0.0083	benign,benign	656/2722,656/2813	100349694	1,12009	1887	4118	6005			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100349694G>A	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.100349694G>A						ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2114	+	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			.	.	.	.	.	.	.	.	.	.	g	3.588	-0.084109	0.07097	0.0	1.21E-4	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.62232	0.04;0.04;0.04	2.65	-3.92	0.04155	.	.	.	.	.	T	0.37073	0.0990	N	0.12569	0.235	0.09310	N	0.999999	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.12734	-1.0536	9	0.45353	T	0.12	.	6.1335	0.20219	0.6317:0.0:0.2198:0.1484	rs13241331;rs13241331	656;656	F5H0T8;Q9Y493	.;ZAN_HUMAN	I	656	ENSP00000445943:V656I;ENSP00000445091:V656I;ENSP00000444427:V656I	ENSP00000423579:V656I	V	+	1	0	ZAN	100187630	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.561000	0.00430	-1.204000	0.02648	-2.111000	0.00353	GTC		0.517	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		5	137	0	0	0	1	0	5	137					A	100349694	G	A	100349694	1	1	180	0	1	0	0	0	0	0	0	0	17510	1145	40	1		1	ZAN	7	100349694	RNA	SNP	G	TCGA-E8-A417-01A-21D-A23M-08	98763032	100349694	58788969	15	3772											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		35	56	0	0	0	1	0	35	56					T	140453136	A	T	140453136	3	4	180	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E8-A417-01A-21D-A23M-08	40103442	140453136	18685527	16	3773											
ESCO2	157570	broad.mit.edu	37	chr8	27634576	27634577	+	Frame_Shift_Ins	INS	-	-	A													tgatgtagagactgtcagtgINSaaaaaaaaacttttgcgaca					rs80359854|rs80359853		TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr8:27634576_27634577insA	ENST00000305188.8	+	3	989_990	c.751_752insA	c.(751-753)gaafs	p.E251fs	ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	251					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		GACTGTCAGTGAAAAAAAAACT	0.396									SC Phocomelia syndrome																													ENST00000305188.8																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	GRCh37	CI054453	ESCO2	I	rs80359852	c.(751-753)aaafs		establishment of sister chromatid cohesion N-acetyltransferase 2																																				SO:0001589	frameshift_variant	157570	SC Phocomelia syndrome	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr8:27634576_27634577insA	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"Roberts syndrome", "establishment of cohesion 1 homolog 2 (S. cerevisiae)"	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.760dupA	8.37:g.27634585_27634585dupA	ENSP00000306999:p.Glu251fs					ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR	p.K251fs	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)	3	989_990	+		Ovarian(32;0.000953)	251					B3KW59|Q49AP4	Frame_Shift_Ins	INS	ENST00000305188.8	37	c.751_752insA	CCDS34872.1																																																																																				0.396	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1	NM_001017420		7	123						7	123	---	---	---	---	A	27634577	-	A	27634576	7	5	180	1	0	1	1	0	0	0	0	0	5249	1291	45	0	757	0	ESCO2	8	27634576	Frame_Shift_Ins	INS	-	TCGA-E8-A417-01A-21D-A23M-08		27634576	118729446	17	3774											
RB1CC1	9821	broad.mit.edu	37	chr8	53571499	53571499	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaaatcttttaatgaaataTctggaagttcacagtcaaac	6	6	4	1			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr8:53571499T>C	ENST00000025008.5	-	13	2250	c.1727A>G	c.(1726-1728)gAt>gGt	p.D576G	RB1CC1_ENST00000539297.1_Missense_Mutation_p.D576G|RB1CC1_ENST00000435644.2_Missense_Mutation_p.D576G|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	576					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TAATGAAATATCTGGAAGTTC	0.289																																					GBM(180;1701 2102 13475 42023 52570)	ENST00000025008.5																			0				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(1726-1728)gAt>gGt		RB1-inducible coiled-coil 1							38	39	38					8																	53571499		2203	4299	6502	SO:0001583	missense	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53571499T>C	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"200 kDa FAK family kinase-interacting protein", "phosphatase 1, regulatory subunit 131"	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.1727A>G	8.37:g.53571499T>C	ENSP00000025008:p.Asp576Gly					RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.D576G|RB1CC1_ENST00000539297.1_Missense_Mutation_p.D576G	p.D576G	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN			13	2250	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	576					Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	c.1727A>G	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.131202	0.77549	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.15834	2.39;2.39;2.39	5.13	5.13	0.70059	.	0.057853	0.64402	D	0.000002	T	0.39358	0.1075	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.11641	-1.0579	10	0.46703	T	0.11	-21.7051	15.2474	0.73517	0.0:0.0:0.0:1.0	.	576;576	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	G	576	ENSP00000025008:D576G;ENSP00000396067:D576G;ENSP00000445960:D576G	ENSP00000025008:D576G	D	-	2	0	RB1CC1	53734052	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.032000	0.70918	2.064000	0.61679	0.460000	0.39030	GAT		0.289	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		10	30	0	0	0	1	0	10	30					C	53571499	T	C	53571499	3	2	180	1	0	0	0	0	1	0	0	0	13099	1435	50	3	3105	3	RB1CC1	8	53571499	Missense_Mutation	SNP	T	TCGA-E8-A417-01A-21D-A23M-08	25936923	53571499	92792523	18	3775											
ASAP1	50807	broad.mit.edu	37	chr8	131249199	131249199	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttatatattgcttttacagaCttcttcactttctgaagggc	6	8	3	2			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr8:131249199C>A	ENST00000518721.1	-	4	455	c.228G>T	c.(226-228)aaG>aaT	p.K76N	ASAP1_ENST00000357668.1_Missense_Mutation_p.K76N	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	76					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CTTTTACAGACTTCTTCACTT	0.289																																						ENST00000357668.1																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(226-228)aaG>aaT		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1							62	60	61					8																	131249199		2203	4295	6498	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131249199C>A	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2720	protein-coding gene	gene with protein product	"centaurin, beta 4"	605953	"development and differentiation enhancing factor 1"	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.228G>T	8.37:g.131249199C>A	ENSP00000429900:p.Lys76Asn					ASAP1_ENST00000518721.1_Missense_Mutation_p.K76N	p.K76N			Q9ULH1	ASAP1_HUMAN			3	255	-			76					B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.228G>T	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397138	0.62177	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721;ENST00000524367;ENST00000521426	T;T;T;T	0.08634	3.07;3.07;3.07;3.07	5.45	2.43	0.29744	IRSp53/MIM homology domain (IMD) (1);	0.108090	0.64402	D	0.000009	T	0.23410	0.0566	M	0.79011	2.435	0.58432	D	0.999995	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.00533	-1.1685	10	0.59425	D	0.04	.	6.0316	0.19683	0.0:0.492:0.0:0.508	.	76;76	B2RNV3;Q9ULH1	.;ASAP1_HUMAN	N	76;76;76;46;69	ENSP00000350297:K76N;ENSP00000429900:K76N;ENSP00000430588:K46N;ENSP00000430917:K69N	ENSP00000344591:K76N	K	-	3	2	ASAP1	131318381	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.323000	0.19593	0.527000	0.28560	0.650000	0.86243	AAG		0.289	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		4	17	1	0	1	1	1	4	17					A	131249199	C	A	131249199	3	1	180	1	0	0	0	0	1	0	0	0	1010	564	20	4	3269	4	ASAP1	8	131249199	Missense_Mutation	SNP	C	TCGA-E8-A417-01A-21D-A23M-08	77677700	131249199	15114823	19	3776											
RMI1	80010	broad.mit.edu	37	chr9	86616420	86616420	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attttgatttatggaaatatAtctttccgtcttggtgttct	7	5	3	1			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr9:86616420A>G	ENST00000325875.3	+	3	851	c.519A>G	c.(517-519)atA>atG	p.I173M		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	173					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						ATGGAAATATATCTTTCCGTC	0.358																																						ENST00000325875.3																			0				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(517-519)atA>atG		RecQ mediated genome instability 1							60	63	62					9																	86616420		2202	4298	6500	SO:0001583	missense	80010				DNA replication	nucleus		g.chr9:86616420A>G	AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"BLM-Associated Polypeptide, 75 kDa"	610404	"chromosome 9 open reading frame 76", "RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.519A>G	9.37:g.86616420A>G	ENSP00000317039:p.Ile173Met						p.I173M	NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN			3	851	+			173					Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation	SNP	ENST00000325875.3	37	c.519A>G	CCDS6669.1	.	.	.	.	.	.	.	.	.	.	A	13.72	2.322586	0.41096	.	.	ENSG00000178966	ENST00000445877;ENST00000325875	T;T	0.50277	0.75;1.34	5.76	4.61	0.57282	.	0.149345	0.64402	D	0.000013	T	0.51669	0.1688	M	0.74546	2.27	0.41071	D	0.985454	B	0.18968	0.032	B	0.30029	0.11	T	0.52540	-0.8562	10	0.54805	T	0.06	-5.5172	12.2902	0.54815	0.1314:0.0:0.0:0.8686	.	173	Q9H9A7	RMI1_HUMAN	M	173	ENSP00000402433:I173M;ENSP00000317039:I173M	ENSP00000317039:I173M	I	+	3	3	RMI1	85806240	0.998000	0.40836	1.000000	0.80357	0.923000	0.55619	1.052000	0.30429	1.098000	0.41479	-0.347000	0.07816	ATA		0.358	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052870.1	NM_024945		5	58	0	0	0	1	0	5	58					G	86616420	A	G	86616420	3	3	180	1	0	0	0	0	1	0	0	0	13395	439	16	3	521	3	RMI1	9	86616420	Missense_Mutation	SNP	A	TCGA-E8-A417-01A-21D-A23M-08		86616420	54597011	20	3777											
SCAI	286205	broad.mit.edu	37	chr9	127765811	127765811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctttccagagcttgtaaCatccggaacatgtcaacagt	7	12	1	1			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr9:127765811C>T	ENST00000336505.6	-	10	958	c.900G>A	c.(898-900)atG>atA	p.M300I	SCAI_ENST00000373549.4_Missense_Mutation_p.M323I|SCAI_ENST00000487795.1_5'UTR	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	300					negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						GAGCTTGTAACATCCGGAACA	0.393																																						ENST00000336505.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						c.(898-900)atG>atA		suppressor of cancer cell invasion							115	107	109					9																	127765811		1880	4119	5999	SO:0001583	missense	286205				negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity	g.chr9:127765811C>T	AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 126"	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.900G>A	9.37:g.127765811C>T	ENSP00000336756:p.Met300Ile					SCAI_ENST00000487795.1_5'UTR|SCAI_ENST00000373549.4_Missense_Mutation_p.M323I	p.M300I	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN			10	958	-			300					Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Missense_Mutation	SNP	ENST00000336505.6	37	c.900G>A	CCDS48017.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317447	0.81469	.	.	ENSG00000173611	ENST00000336505;ENST00000373549	T;T	0.58210	0.35;0.36	5.05	5.05	0.67936	.	0.113229	0.85682	D	0.000000	T	0.65984	0.2744	M	0.62088	1.915	0.58432	D	0.999998	P;P	0.40180	0.705;0.656	P;P	0.52758	0.708;0.679	T	0.66312	-0.5955	10	0.48119	T	0.1	-12.5214	17.4034	0.87467	0.0:1.0:0.0:0.0	.	300;323	Q8N9R8;Q8N9R8-2	SCAI_HUMAN;.	I	300;323	ENSP00000336756:M300I;ENSP00000362650:M323I	ENSP00000336756:M300I	M	-	3	0	SCAI	126805632	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.445000	0.80570	2.340000	0.79590	0.455000	0.32223	ATG		0.393	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054055.3	NM_173690		20	101	0	0	0	1	0	20	101					T	127765811	C	T	127765811	3	4	180	1	0	0	0	0	1	0	0	0	13869	478	17	2	956	2	SCAI	9	127765811	Missense_Mutation	SNP	C	TCGA-E8-A417-01A-21D-A23M-08	41149391	127765811	13447620	21	3778											
MKI67	4288	broad.mit.edu	37	chr10	129906793	129906793	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tctggaagagctctttgaagCcagccaggtcttctagtgac	11	10	4	3			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr10:129906793C>G	ENST00000368654.3	-	13	3686	c.3311G>C	c.(3310-3312)gGc>gCc	p.G1104A	MKI67_ENST00000484853.1_5'Flank|MKI67_ENST00000368653.3_Missense_Mutation_p.G744A	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1104	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTCTTTGAAGCCAGCCAGGTC	0.507																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(3310-3312)gGc>gCc		marker of proliferation Ki-67							193	190	191					10																	129906793		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129906793C>G	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3311G>C	10.37:g.129906793C>G	ENSP00000357643:p.Gly1104Ala					MKI67_ENST00000368653.3_Missense_Mutation_p.G744A	p.G1104A	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	3686	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1104			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.3311G>C	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.308739	0.40895	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.03242	4.0;4.0	4.08	2.17	0.27698	.	.	.	.	.	T	0.10809	0.0264	M	0.70595	2.14	0.09310	N	1	D;D;D	0.89917	0.974;1.0;1.0	P;D;D	0.74348	0.849;0.983;0.979	T	0.11991	-1.0565	9	0.07175	T	0.84	.	6.9372	0.24472	0.1714:0.7374:0.0:0.0912	.	1103;744;1104	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	A	1104;744;1103	ENSP00000357643:G1104A;ENSP00000357642:G744A	ENSP00000357642:G744A	G	-	2	0	MKI67	129796783	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	1.056000	0.30480	0.468000	0.27243	0.561000	0.74099	GGC		0.507	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		34	275	0	0	0	1	0	34	275					G	129906793	C	G	129906793	3	3	180	1	0	0	0	0	1	0	0	0	9598	739	26	4	6471	4	MKI67	10	129906793	Missense_Mutation	SNP	C	TCGA-E8-A417-01A-21D-A23M-08		129906793	5627954	22	3779											
KRTAP5-4	387267	broad.mit.edu	37	chr11	1643082	1643082	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaacccccacaagagccaTagccccccttggagccccca	8	19	0	1			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr11:1643082T>C	ENST00000399682.1	-	1	286	c.242A>G	c.(241-243)tAt>tGt	p.Y81C		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACAAGAGCCATAGCCCCCCTT	0.657																																						ENST00000399682.1																			0				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20						c.(241-243)tAt>tGt		keratin associated protein 5-4							9	16	14					11																	1643082		684	1578	2262	SO:0001583	missense	387267					keratin filament		g.chr11:1643082T>C	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"Keratin associated proteins"	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.242A>G	11.37:g.1643082T>C	ENSP00000382590:p.Tyr81Cys						p.Y81C	NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	286	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	81			9 X 4 AA repeats of C-C-X-P.			Missense_Mutation	SNP	ENST00000399682.1	37	c.242A>G		.	.	.	.	.	.	.	.	.	.	C	0.053	-1.244643	0.01481	.	.	ENSG00000241598	ENST00000399682;ENST00000328953	T	0.00646	6.0	3.19	3.19	0.36642	.	.	.	.	.	T	0.00144	0.0004	N	0.00004	-3.39	0.20196	N	0.999929	B	0.02656	0.0	B	0.01281	0.0	T	0.41610	-0.9499	9	0.02654	T	1	.	5.8653	0.18771	0.0:0.738:0.0:0.262	rs59610171	81	Q6L8H1	KRA54_HUMAN	C	81	ENSP00000382590:Y81C	ENSP00000331603:Y81C	Y	-	2	0	KRTAP5-4	1599658	0.218000	0.23608	0.997000	0.53966	0.226000	0.24999	0.624000	0.24462	0.452000	0.26830	-0.254000	0.11334	TAT		0.657	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		5	308	0	0	0	1	0	5	308					C	1643082	T	C	1643082	3	2	180	1	0	0	0	0	1	0	0	0	8563	1406	49	3	448	3	KRTAP5-4	11	1643082	Missense_Mutation	SNP	T	TCGA-E8-A417-01A-21D-A23M-08		1643082	133363434	23	3780											
ANO5	203859	broad.mit.edu	37	chr11	22261130	22261130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagggccaatattggaagCcatcagaacctcccaatcct	8	13	1	1			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr11:22261130C>T	ENST00000324559.8	+	9	1095	c.778C>T	c.(778-780)Cca>Tca	p.P260S		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	260					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						ATATTGGAAGCCATCAGAACC	0.398																																						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.(778-780)Cca>Tca		anoctamin 5							135	138	137					11																	22261130		2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22261130C>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.778C>T	11.37:g.22261130C>T	ENSP00000315371:p.Pro260Ser						p.P260S	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN			9	1095	+			260						Missense_Mutation	SNP	ENST00000324559.8	37	c.778C>T	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797492	0.31777	.	.	ENSG00000171714	ENST00000324559	T	0.73047	-0.71	6.02	1.62	0.23740	.	0.297982	0.40302	N	0.001134	T	0.57021	0.2025	L	0.49350	1.555	0.25411	N	0.988354	B	0.10296	0.003	B	0.12156	0.007	T	0.48559	-0.9025	10	0.45353	T	0.12	.	2.9113	0.05738	0.3324:0.3729:0.2105:0.0843	.	260	Q75V66	ANO5_HUMAN	S	260	ENSP00000315371:P260S	ENSP00000315371:P260S	P	+	1	0	ANO5	22217706	1.000000	0.71417	0.993000	0.49108	0.851000	0.48451	1.772000	0.38552	0.410000	0.25675	0.650000	0.86243	CCA		0.398	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		27	185	0	0	0	1	0	27	185					T	22261130	C	T	22261130	3	4	180	1	0	0	0	0	1	0	0	0	700	739	26	2	812	2	ANO5	11	22261130	Missense_Mutation	SNP	C	TCGA-E8-A417-01A-21D-A23M-08	20618048	22261130	112745386	24	3781											
KRT85	3891	broad.mit.edu	37	chr12	52757867	52757867	+	Frame_Shift_Del	DEL	C	C	-													cttacctcttcatagaggcgCctcaggaagctagactcctc							TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr12:52757867delC	ENST00000257901.3	-	4	846	c.771delG	c.(769-771)aggfs	p.R258fs	KRT85_ENST00000544265.1_Frame_Shift_Del_p.R46fs	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	258	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CATAGAGGCGCCTCAGGAAGC	0.612																																						ENST00000257901.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(769-771)agfs		keratin 85							100	102	101					12																	52757867		2203	4300	6503	SO:0001589	frameshift_variant	3891				epidermis development	keratin filament	protein binding|structural molecule activity	g.chr12:52757867delC	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"-", "Intermediate filaments type II, keratins (basic)"	6462	protein-coding gene	gene with protein product	"hard keratin type II"	602767	"keratin, hair, basic, 5"	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.771delG	12.37:g.52757867delC	ENSP00000257901:p.Arg258fs					KRT85_ENST00000544265.1_Frame_Shift_Del_p.R46fs	p.R258fs	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	4	846	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		258			Coil 1B.|Rod.		Q9NSB1	Frame_Shift_Del	DEL	ENST00000257901.3	37	c.771delG	CCDS8824.1																																																																																				0.612	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		14	228						14	228	---	---	---	---	-	52757867	C	-	52757867	7	5	180	1	0	1	0	1	0	0	0	0	8499	738	26	0	776	0	KRT85	12	52757867	Frame_Shift_Del	DEL	C	TCGA-E8-A417-01A-21D-A23M-08		52757867	81094028	25	3782											
EEA1	8411	broad.mit.edu	37	chr12	93181726	93181726	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgaaagtttcctgactttTttcatagttgttttgtaata	6	4	1	2			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr12:93181726T>C	ENST00000322349.8	-	22	3331	c.3067A>G	c.(3067-3069)Aaa>Gaa	p.K1023E		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	1023	Gln/Glu/Lys-rich.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TCCTGACTTTTTTCATAGTTG	0.388																																						ENST00000322349.8																			0				endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						c.(3067-3069)Aaa>Gaa		early endosome antigen 1							67	65	66					12																	93181726		2203	4300	6503	SO:0001583	missense	8411				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	g.chr12:93181726T>C	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"Zinc fingers, FYVE domain containing"	3185	protein-coding gene	gene with protein product		605070	"early endosome antigen 1, 162kD"			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.3067A>G	12.37:g.93181726T>C	ENSP00000317955:p.Lys1023Glu						p.K1023E	NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN			22	3331	-			1023			Gln/Glu/Lys-rich.		Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	c.3067A>G	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	T	0.343	-0.949082	0.02304	.	.	ENSG00000102189	ENST00000322349	T	0.64260	-0.09	6.06	4.91	0.64330	.	0.000000	0.56097	D	0.000027	T	0.37839	0.1018	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25572	-1.0128	10	0.05525	T	0.97	.	8.3674	0.32395	0.0:0.0672:0.1308:0.8019	.	1023	Q15075	EEA1_HUMAN	E	1023	ENSP00000317955:K1023E	ENSP00000317955:K1023E	K	-	1	0	EEA1	91705857	0.966000	0.33281	0.839000	0.33178	0.148000	0.21650	1.915000	0.39976	2.323000	0.78572	0.528000	0.53228	AAA		0.388	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		7	36	0	0	0	1	0	7	36					C	93181726	T	C	93181726	3	2	180	1	0	0	0	0	1	0	0	0	4921	1850	64	3	1200	3	EEA1	12	93181726	Missense_Mutation	SNP	T	TCGA-E8-A417-01A-21D-A23M-08	40423859	93181726	40670169	26	3783											
ING1	3621	broad.mit.edu	37	chr13	111367947	111367947	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gggtggagggtggacgagttGatttgaacgtcttcgggtcg	19	5	1	2			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr13:111367947G>T	ENST00000375774.3	+	1	619	c.157G>T	c.(157-159)Gat>Tat	p.D53Y	ING1_ENST00000338450.7_Intron|CARS2_ENST00000535398.1_5'Flank|ING1_ENST00000375775.3_Intron|ING1_ENST00000464141.1_Intron|ING1_ENST00000333219.7_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	53					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TGGACGAGTTGATTTGAACGT	0.592																																						ENST00000375774.3																			0				endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12						c.(157-159)Gat>Tat		inhibitor of growth family, member 1							107	103	104					13																	111367947		2203	4300	6503	SO:0001583	missense	3621				cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding	g.chr13:111367947G>T		CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"Zinc fingers, PHD-type"	6062	protein-coding gene	gene with protein product	"inhibitor of growth 1", "tumor suppressor ING1", "growth inhibitor ING1", "growth inhibitory protein ING1"	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.157G>T	13.37:g.111367947G>T	ENSP00000364929:p.Asp53Tyr					ING1_ENST00000464141.1_Intron|ING1_ENST00000338450.7_Intron|ING1_ENST00000333219.7_Intron|ING1_ENST00000375775.3_Intron	p.D53Y	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		1	619	+	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		53					O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Missense_Mutation	SNP	ENST00000375774.3	37	c.157G>T	CCDS9517.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.811642	0.32053	.	.	ENSG00000153487	ENST00000375774	T	0.36157	1.27	4.09	3.22	0.36961	.	0.497073	0.21517	N	0.073291	T	0.23054	0.0557	N	0.19112	0.55	0.24554	N	0.99401	B	0.14805	0.011	B	0.11329	0.006	T	0.20638	-1.0269	10	0.87932	D	0	-13.0933	8.7461	0.34587	0.0:0.0:0.7742:0.2258	.	53	Q9UK53	ING1_HUMAN	Y	53	ENSP00000364929:D53Y	ENSP00000364929:D53Y	D	+	1	0	ING1	110165948	1.000000	0.71417	0.990000	0.47175	0.746000	0.42486	1.236000	0.32683	0.887000	0.36136	0.561000	0.74099	GAT		0.592	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537		9	45	1	0	5.4927e-09	1	5.95043e-09	9	45					T	111367947	G	T	111367947	3	4	180	1	0	0	0	0	1	0	0	0	7735	1290	45	4	307	4	ING1	13	111367947	Missense_Mutation	SNP	G	TCGA-E8-A417-01A-21D-A23M-08		111367947	3801931	27	3784											
ABHD12B	145447	broad.mit.edu	37	chr14	51370812	51370812	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctatgaaattgcacgcaaTgcatacaggaacaaagagag	9	8	1	2			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr14:51370812T>C	ENST00000337334.2	+	12	978	c.963T>C	c.(961-963)aaT>aaC	p.N321N	ABHD12B_ENST00000395752.1_Silent_p.N214N|PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000353130.1_Silent_p.N244N	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	321							hydrolase activity (GO:0016787)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					TTGCACGCAATGCATACAGGA	0.433																																						ENST00000337334.2																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10						c.(961-963)aaT>aaC		abhydrolase domain containing 12B							163	158	160					14																	51370812		2203	4300	6503	SO:0001819	synonymous_variant	145447						hydrolase activity	g.chr14:51370812T>C	BG698443	CCDS9702.1, CCDS55916.1	14q21.3	2009-10-09	2007-04-03	2007-04-03	ENSG00000131969	ENSG00000131969		"Abhydrolase domain containing"	19837	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 29"	C14orf29			Standard	NM_181814		Approved	BEM46L3	uc001wys.3	Q7Z5M8	OTTHUMG00000140286	ENST00000337334.2:c.963T>C	14.37:g.51370812T>C						ABHD12B_ENST00000353130.1_Silent_p.N244N|ABHD12B_ENST00000395752.1_Silent_p.N214N|PYGL_ENST00000532462.1_Intron	p.N321N	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN			12	978	+	all_epithelial(31;0.00481)|Breast(41;0.148)		321					Q3KNR9|Q3KNS0|Q7Z5M6|Q7Z5M7|Q8N4D2	Silent	SNP	ENST00000337334.2	37	c.963T>C	CCDS55916.1																																																																																				0.433	ABHD12B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411030.1			5	189	0	0	0	1	0	5	189					C	51370812	T	C	51370812	2	2	180	1	0	0	0	0	0	0	0	1	77	1461	51	3		3	ABHD12B	14	51370812	Silent	SNP	T	TCGA-E8-A417-01A-21D-A23M-08		51370812	55978728	28	3785											
FRMD5	84978	broad.mit.edu	37	chr15	44176008	44176008	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggctgggaaccatccctgctCtgaggttaaagaaaaagaac	11	9	1	3			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr15:44176008C>G	ENST00000417257.1	-	13	1205		c.e13-1		FRMD5_ENST00000484674.1_Splice_Site|FRMD5_ENST00000402883.1_Splice_Site	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		CATCCCTGCTCTGAGGTTAAA	0.498																																						ENST00000417257.1																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.e13-1		FERM domain containing 5							73	67	69					15																	44176008		2198	4298	6496	SO:0001630	splice_region_variant	84978					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr15:44176008C>G	BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877			28214	protein-coding gene	gene with protein product							Standard	XM_005254729		Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000417257.1:c.1029-1G>C	15.37:g.44176008C>G						FRMD5_ENST00000484674.1_Splice_Site|FRMD5_ENST00000402883.1_Splice_Site		NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)	13	1205	-		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)						Q8NBG4	Splice_Site	SNP	ENST00000417257.1	37		CCDS10107.2	.	.	.	.	.	.	.	.	.	.	C	21.1	4.098343	0.76870	.	.	ENSG00000171877	ENST00000417257;ENST00000402883;ENST00000449926	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.234	0.89944	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FRMD5	41963300	1.000000	0.71417	0.999000	0.59377	0.833000	0.47200	7.186000	0.77722	2.884000	0.98904	0.655000	0.94253	.		0.498	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133879.1	NM_032892	Intron	13	80	0	0	0	1	0	13	80					G	44176008	C	G	44176008	5	3	180	1	0	0	0	0	0	0	1	0	6053	927	32	4	692	4	FRMD5	15	44176008	Splice_Site	SNP	C	TCGA-E8-A417-01A-21D-A23M-08		44176008	58355384	29	3786											
WDR72	256764	broad.mit.edu	37	chr15	53815440	53815440	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctctcagactcttccaaggcAcatctgtcaggcatgtcctc	7	15	4	1			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr15:53815440A>T	ENST00000396328.1	-	19	3467	c.3228T>A	c.(3226-3228)tgT>tgA	p.C1076*	WDR72_ENST00000559418.1_Nonsense_Mutation_p.C1086*|WDR72_ENST00000557913.1_Nonsense_Mutation_p.C1073*|WDR72_ENST00000360509.5_Nonsense_Mutation_p.C1076*|WDR72_ENST00000567224.1_5'UTR	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1076										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CTTCCAAGGCACATCTGTCAG	0.458																																						ENST00000396328.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(3226-3228)tgT>tgA		WD repeat domain 72							192	186	188					15																	53815440		2194	4293	6487	SO:0001587	stop_gained	256764							g.chr15:53815440A>T	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"WD repeat domain containing"	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.3228T>A	15.37:g.53815440A>T	ENSP00000379619:p.Cys1076*					WDR72_ENST00000360509.5_Nonsense_Mutation_p.C1076*|WDR72_ENST00000567224.1_5'UTR|WDR72_ENST00000557913.1_Nonsense_Mutation_p.C1073*|WDR72_ENST00000559418.1_Nonsense_Mutation_p.C1086*	p.C1076*	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	19	3467	-			1076					Q7Z3I3|Q8N8X2	Nonsense_Mutation	SNP	ENST00000396328.1	37	c.3228T>A	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	A	39	7.517358	0.98332	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	.	.	.	6.17	1.34	0.21922	.	0.311666	0.28420	N	0.015403	.	.	.	.	.	.	0.54753	D	0.999985	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.4536	0.21918	0.6233:0.1185:0.2582:0.0	.	.	.	.	X	1076	.	ENSP00000353699:C1076X	C	-	3	2	WDR72	51602732	1.000000	0.71417	0.997000	0.53966	0.809000	0.45718	0.998000	0.29744	-0.018000	0.14079	-0.316000	0.08728	TGT		0.458	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		61	208	0	0	0	1	0	61	208					T	53815440	A	T	53815440	4	4	180	1	0	0	0	0	0	1	0	0	17319	157	6	5	88	5	WDR72	15	53815440	Nonsense_Mutation	SNP	A	TCGA-E8-A417-01A-21D-A23M-08	9639432	53815440	48715952	30	3787											
PDILT	204474	broad.mit.edu	37	chr16	20370700	20370702	+	In_Frame_Del	DEL	CCA	CCA	-													tggaggtccctttggcttagCcaccaccaccaccacctcct							TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr16:20370700_20370702delCCA	ENST00000302451.4	-	12	1942_1944	c.1694_1696delTGG	c.(1693-1698)gtggct>gct	p.V565del		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	565					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTTGGCTTAGCCACCACCACCAC	0.478																																						ENST00000302451.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						c.(1693-1698)gct>g		protein disulfide isomerase-like, testis expressed																																				SO:0001651	inframe_deletion	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20370700_20370702delCCA		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"Protein disulfide isomerases"	27338	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 7", "protein disulfide isomerase-like protein of the testis"					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1694_1696delTGG	16.37:g.20370709_20370711delCCA	ENSP00000305465:p.Val565del						p.VA565del	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN			12	1942_1944	-			565					Q8IVQ5	In_Frame_Del	DEL	ENST00000302451.4	37	c.1694_1696delTGG	CCDS10584.1																																																																																				0.478	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		7	312						7	312	---	---	---	---	-	20370702	CCA	-	20370700	7	5	180	1	0	1	0	1	0	0	0	0	11674	739	26	0	62	0	PDILT	16	20370700	In_Frame_Del	DEL	CCA	TCGA-E8-A417-01A-21D-A23M-08		20370700	69984053	31	3788											
ZFHX3	463	broad.mit.edu	37	chr16	72830938	72830938	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctttttccttttctttgatGaccaatttgttcttcttttc	3	9	4	2			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr16:72830938G>A	ENST00000268489.5	-	9	6315	c.5643C>T	c.(5641-5643)gtC>gtT	p.V1881V	ZFHX3_ENST00000397992.5_Silent_p.V967V	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1881					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)				TTTCTTTGATGACCAATTTGT	0.542																																						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.(5641-5643)gtC>gtT		zinc finger homeobox 3							87	91	90					16																	72830938		2198	4300	6498	SO:0001819	synonymous_variant	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.chr16:72830938G>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.5643C>T	16.37:g.72830938G>A						ZFHX3_ENST00000397992.5_Silent_p.V967V	p.V1881V	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	6315	-		Ovarian(137;0.13)	1881					D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.5643C>T	CCDS10908.1																																																																																				0.542	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		24	111	0	0	0	1	0	24	111					A	72830938	G	A	72830938	2	1	180	1	0	0	0	0	0	0	0	1	17631	1277	45	2		2	ZFHX3	16	72830938	Silent	SNP	G	TCGA-E8-A417-01A-21D-A23M-08	52460238	72830938	17523815	32	3789											
BANP	54971	broad.mit.edu	37	chr16	88061220	88061220	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcggtcaagagcttctcgCggagaacgcccaactcgtcc	12	14	2	2			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr16:88061220C>T	ENST00000393207.1	+	8	1224	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W	BANP_ENST00000479780.2_Missense_Mutation_p.R304W|BANP_ENST00000355022.4_Missense_Mutation_p.R304W|BANP_ENST00000393208.2_Missense_Mutation_p.R304W|BANP_ENST00000355163.5_Missense_Mutation_p.R310W|BANP_ENST00000286122.7_Missense_Mutation_p.R335W|BANP_ENST00000538234.1_Missense_Mutation_p.R343W	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	335	Interaction with CUX1 and HDAC1. {ECO:0000250}.|Necessary and sufficient for TP53 activation. {ECO:0000250}.				cell cycle (GO:0007049)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of protein catabolic process (GO:0042177)|protein localization to nucleus (GO:0034504)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		GAGCTTCTCGCGGAGAACGCC	0.682																																						ENST00000393207.1																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12						c.(1003-1005)Cgg>Tgg		BTG3 associated nuclear protein							57	62	60					16																	88061220		2198	4300	6498	SO:0001583	missense	54971				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr16:88061220C>T	AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530		"BEN domain containing"	13450	protein-coding gene	gene with protein product	"BEN domain containing 1"	611564				10940556, 10950932	Standard	NM_017869		Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.1003C>T	16.37:g.88061220C>T	ENSP00000376902:p.Arg335Trp					BANP_ENST00000355163.5_Missense_Mutation_p.R310W|BANP_ENST00000393208.2_Missense_Mutation_p.R304W|BANP_ENST00000538234.1_Missense_Mutation_p.R343W|BANP_ENST00000479780.2_Missense_Mutation_p.R304W|BANP_ENST00000355022.4_Missense_Mutation_p.R304W|BANP_ENST00000286122.7_Missense_Mutation_p.R335W	p.R335W	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.00551)	8	1224	+			335			Interaction with CUX1 and HDAC1 (By similarity).|Necessary and sufficient for TP53 activation (By similarity).		A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Missense_Mutation	SNP	ENST00000393207.1	37	c.1003C>T	CCDS54054.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.467715	0.63625	.	.	ENSG00000172530	ENST00000286122;ENST00000355163;ENST00000289484;ENST00000479780;ENST00000393208;ENST00000540932;ENST00000355022;ENST00000538234;ENST00000393207	T;T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73;1.73	5.14	1.45	0.22620	.	0.052063	0.64402	D	0.000002	T	0.40094	0.1103	L	0.36672	1.1	0.29856	N	0.827996	P;P;D;D;D;D	0.89917	0.499;0.812;0.999;1.0;0.999;1.0	B;B;P;D;D;D	0.91635	0.07;0.168;0.825;0.994;0.916;0.999	T	0.47235	-0.9133	10	0.87932	D	0	.	15.878	0.79180	0.3195:0.6805:0.0:0.0	.	343;310;304;335;304;304	B4DE54;B4DNJ9;B2RCF7;Q8N9N5;Q8N9N5-2;Q8N9N5-4	.;.;.;BANP_HUMAN;.;.	W	335;310;300;304;304;304;304;343;335	ENSP00000286122:R335W;ENSP00000347290:R310W;ENSP00000432508:R304W;ENSP00000376903:R304W;ENSP00000347125:R304W;ENSP00000444352:R343W;ENSP00000376902:R335W	ENSP00000286122:R335W	R	+	1	2	BANP	86618721	0.135000	0.22499	0.506000	0.27664	0.953000	0.61014	0.671000	0.25172	0.432000	0.26286	0.462000	0.41574	CGG		0.682	BANP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269166.1	NM_017869		4	162	0	0	0	1	0	4	162					T	88061220	C	T	88061220	3	4	180	1	0	0	0	0	1	0	0	0	1310	759	27	1	1071	1	BANP	16	88061220	Missense_Mutation	SNP	C	TCGA-E8-A417-01A-21D-A23M-08	15230282	88061220	2293533	33	3790											
ABCA8	10351	broad.mit.edu	37	chr17	66928503	66928503	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctctcttgtgacattaacAgatgcatagtaaatgaatga	7	7	2	4			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr17:66928503A>C	ENST00000269080.2	-	6	860	c.723T>G	c.(721-723)tcT>tcG	p.S241S	ABCA8_ENST00000430352.2_Silent_p.S241S|ABCA8_ENST00000586539.1_Silent_p.S241S	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	241					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TGACATTAACAGATGCATAGT	0.378																																						ENST00000269080.2																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(721-723)tcT>tcG		ATP-binding cassette, sub-family A (ABC1), member 8							89	81	84					17																	66928503		2203	4300	6503	SO:0001819	synonymous_variant	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66928503A>C	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"ATP binding cassette transporters / subfamily A"	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.723T>G	17.37:g.66928503A>C						ABCA8_ENST00000586539.1_Silent_p.S241S|ABCA8_ENST00000430352.2_Silent_p.S241S	p.S241S	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			6	860	-	Breast(10;4.56e-13)		241					A1L3U3|C9JQE6|Q86WW0	Silent	SNP	ENST00000269080.2	37	c.723T>G	CCDS11680.1																																																																																				0.378	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		6	52	0	0	0	1	0	6	52					C	66928503	A	C	66928503	2	2	180	1	0	0	0	0	0	0	0	1	38	175	7	5		5	ABCA8	17	66928503	Silent	SNP	A	TCGA-E8-A417-01A-21D-A23M-08		66928503	14266707	34	3791											
LASS4	79603	broad.mit.edu	37	chr19	8315968	8315968	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctgtgtccacagaatgctgtCcagtttcaacgagtggtttt	10	9	1	1	rs571764774		TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr19:8315968C>G	ENST00000251363.5	+	3	308	c.8C>G	c.(7-9)tCc>tGc	p.S3C	CERS4_ENST00000559336.1_Missense_Mutation_p.S3C|CERS4_ENST00000558331.1_Intron|CERS4_ENST00000559450.1_Missense_Mutation_p.S3C|CERS4_ENST00000595722.1_Intron	NM_024552.2	NP_078828.2	Q9HA82	CERS4_HUMAN	ceramide synthase 4	3					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										AGAATGCTGTCCAGTTTCAAC	0.577																																						ENST00000251363.5																			0											c.(7-9)tCc>tGc		ceramide synthase 4							236	237	237					19																	8315968		2203	4300	6503	SO:0001583	missense	79603					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr19:8315968C>G		CCDS12197.1	19p13.2	2014-09-11	2011-07-08	2011-07-08	ENSG00000090661	ENSG00000090661		"Homeoboxes / CERS class"	23747	protein-coding gene	gene with protein product		615334	"LAG1 longevity assurance homolog 4 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 4"	LASS4			Standard	NM_024552		Approved	FLJ12089, Trh1	uc002mjg.3	Q9HA82	OTTHUMG00000172570	ENST00000251363.5:c.8C>G	19.37:g.8315968C>G	ENSP00000251363:p.Ser3Cys					CERS4_ENST00000559336.1_Missense_Mutation_p.S3C|CERS4_ENST00000558331.1_Intron|CERS4_ENST00000595722.1_Intron|CERS4_ENST00000559450.1_Missense_Mutation_p.S3C	p.S3C	NM_024552.2	NP_078828.2	Q9HA82	CERS4_HUMAN			3	308	+			3					D6W665	Missense_Mutation	SNP	ENST00000251363.5	37	c.8C>G	CCDS12197.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.548456	0.27652	.	.	ENSG00000090661	ENST00000251363	T	0.61742	0.08	4.35	3.25	0.37280	.	1.351300	0.04450	N	0.372380	T	0.69833	0.3155	M	0.77313	2.365	0.22754	N	0.998771	D;D	0.65815	0.995;0.989	P;P	0.52672	0.706;0.63	T	0.53982	-0.8361	10	0.38643	T	0.18	-32.2283	9.5788	0.39475	0.208:0.792:0.0:0.0	.	3;3	Q53HF9;Q9HA82	.;CERS4_HUMAN	C	3	ENSP00000251363:S3C	ENSP00000251363:S3C	S	+	2	0	CERS4	8221968	0.867000	0.29959	0.968000	0.41197	0.190000	0.23558	1.777000	0.38604	1.983000	0.57843	0.557000	0.71058	TCC		0.577	CERS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419200.1	NM_024552		5	452	0	0	0	1	0	5	452					G	8315968	C	G	8315968	3	3	180	1	0	0	0	0	1	0	0	0	8641	855	30	4	10	4	LASS4	19	8315968	Missense_Mutation	SNP	C	TCGA-E8-A417-01A-21D-A23M-08		8315968	50813015	35	3792											
ATP4A	495	broad.mit.edu	37	chr19	36051822	36051822	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccacagcaatgagagcgaTtgccaggtacagctggggac	13	10	0	1			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr19:36051822T>C	ENST00000262623.3	-	5	461	c.433A>G	c.(433-435)Atc>Gtc	p.I145V		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	145					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	ATGAGAGCGATTGCCAGGTAC	0.577																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(433-435)Atc>Gtc		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						122	105	111					19																	36051822		2203	4300	6503	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36051822T>C		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.433A>G	19.37:g.36051822T>C	ENSP00000262623:p.Ile145Val						p.I145V	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		5	461	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		145					O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.433A>G	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	t	1.705	-0.500619	0.04291	.	.	ENSG00000105675	ENST00000262623	D	0.88277	-2.36	3.22	-1.9	0.07665	ATPase,  P-type, cytoplasmic transduction domain A (1);	0.655593	0.11459	N	0.561984	T	0.76392	0.3981	L	0.37561	1.115	0.22081	N	0.999376	B	0.02656	0.0	B	0.01281	0.0	T	0.58002	-0.7713	10	0.15952	T	0.53	.	0.3378	0.00328	0.2255:0.1624:0.2689:0.3432	.	145	P20648	ATP4A_HUMAN	V	145	ENSP00000262623:I145V	ENSP00000262623:I145V	I	-	1	0	ATP4A	40743662	0.001000	0.12720	0.318000	0.25279	0.740000	0.42216	-0.065000	0.11617	-0.604000	0.05760	0.166000	0.16787	ATC		0.577	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		10	94	0	0	0	1	0	10	94					C	36051822	T	C	36051822	3	2	180	1	0	0	0	0	1	0	0	0	1145	1493	52	3	2746	3	ATP4A	19	36051822	Missense_Mutation	SNP	T	TCGA-E8-A417-01A-21D-A23M-08	27735854	36051822	23077161	36	3793											
SPHK2	56848	broad.mit.edu	37	chr19	49131530	49131530	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccggagcagtgaaccagcacGgggggtaggttgaggatacc	17	9	0	2			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr19:49131530G>T	ENST00000245222.4	+	6	1234	c.868G>T	c.(868-870)Ggg>Tgg	p.G290W	SPHK2_ENST00000598088.1_Missense_Mutation_p.G290W|SPHK2_ENST00000599748.1_Missense_Mutation_p.G254W|SPHK2_ENST00000443164.1_Missense_Mutation_p.G352W|SPHK2_ENST00000599029.1_Missense_Mutation_p.G254W|SPHK2_ENST00000601712.1_Missense_Mutation_p.G254W|SPHK2_ENST00000600537.1_Missense_Mutation_p.G231W|SPHK2_ENST00000340932.3_Missense_Mutation_p.G254W	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	290	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GAACCAGCACGGGGGGTAGGT	0.622																																						ENST00000443164.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(1054-1056)Ggg>Tgg		sphingosine kinase 2							33	37	35					19																	49131530		2199	4295	6494	SO:0001583	missense	56848				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity	g.chr19:49131530G>T	AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.868G>T	19.37:g.49131530G>T	ENSP00000245222:p.Gly290Trp					SPHK2_ENST00000245222.4_Missense_Mutation_p.G290W|SPHK2_ENST00000601712.1_Missense_Mutation_p.G254W|SPHK2_ENST00000600537.1_Missense_Mutation_p.G231W|SPHK2_ENST00000340932.3_Missense_Mutation_p.G254W|SPHK2_ENST00000599748.1_Missense_Mutation_p.G254W|SPHK2_ENST00000599029.1_Missense_Mutation_p.G254W|SPHK2_ENST00000598088.1_Missense_Mutation_p.G290W	p.G352W			Q9NRA0	SPHK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	4	1759	+		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	290					A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Missense_Mutation	SNP	ENST00000245222.4	37	c.1054G>T	CCDS12727.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177107	0.78564	.	.	ENSG00000063176	ENST00000245222;ENST00000406269;ENST00000340932;ENST00000443164	T;T;T	0.23552	1.9;1.9;1.9	4.28	4.28	0.50868	Diacylglycerol kinase, catalytic domain (3);	0.068018	0.56097	D	0.000029	T	0.42877	0.1222	L	0.41961	1.31	0.47476	D	0.99943	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.87578	0.979;0.998;0.998;0.998	T	0.38714	-0.9648	10	0.72032	D	0.01	-8.1299	14.5771	0.68255	0.0:0.0:1.0:0.0	.	231;352;254;290	B4DU87;A0T4C8;Q9NRA0-3;Q9NRA0	.;.;.;SPHK2_HUMAN	W	290;263;254;352	ENSP00000245222:G290W;ENSP00000341091:G254W;ENSP00000413369:G352W	ENSP00000245222:G290W	G	+	1	0	SPHK2	53823342	1.000000	0.71417	0.892000	0.35008	0.867000	0.49689	5.997000	0.70646	2.104000	0.64026	0.551000	0.68910	GGG		0.622	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1			4	87	1	0	0.00909568	1	0.00927403	4	87					T	49131530	G	T	49131530	3	4	180	1	0	0	0	0	1	0	0	0	15046	1116	39	4	886	4	SPHK2	19	49131530	Missense_Mutation	SNP	G	TCGA-E8-A417-01A-21D-A23M-08	13079708	49131530	9997453	37	3794											
FUT1	2523	broad.mit.edu	37	chr19	49254054	49254054	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggggaagccagagagcttcAggaaaggatctctcaagtcc	13	9	3	1			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr19:49254054A>G	ENST00000310160.3	-	4	1459	c.485T>C	c.(484-486)cTg>cCg	p.L162P	FUT1_ENST00000601931.1_5'Flank	NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	162					carbohydrate metabolic process (GO:0005975)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		AGAGAGCTTCAGGAAAGGATC	0.617																																						ENST00000310160.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17						c.(484-486)cTg>cCg		fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)							136	148	144					19																	49254054		2198	4295	6493	SO:0001583	missense	2523				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity	g.chr19:49254054A>G		CCDS12733.1	19q13.33	2014-07-19	2006-01-19		ENSG00000174951	ENSG00000174951	2.4.1.69	"Blood group antigens", "Fucosyltransferases"	4012	protein-coding gene	gene with protein product		211100	"fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, Bombay phenotype included)", "fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase)"	H, HSC			Standard	NM_000148		Approved		uc002pkk.3	P19526		ENST00000310160.3:c.485T>C	19.37:g.49254054A>G	ENSP00000312021:p.Leu162Pro						p.L162P	NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)	4	1459	-		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	162					O14505|O14506|O14507	Missense_Mutation	SNP	ENST00000310160.3	37	c.485T>C	CCDS12733.1	.	.	.	.	.	.	.	.	.	.	A	11.84	1.759480	0.31137	.	.	ENSG00000174951	ENST00000310160;ENST00000539428	D	0.96830	-4.14	4.54	3.52	0.40303	.	0.162472	0.29178	N	0.012907	D	0.97155	0.9070	M	0.72118	2.19	0.34961	D	0.752187	D	0.76494	0.999	D	0.74348	0.983	D	0.98465	1.0598	10	0.87932	D	0	-4.8587	8.4796	0.33034	0.9058:0.0:0.0942:0.0	.	162	P19526	FUT1_HUMAN	P	162;152	ENSP00000312021:L162P	ENSP00000312021:L162P	L	-	2	0	FUT1	53945866	0.093000	0.21703	0.294000	0.24946	0.119000	0.20118	2.503000	0.45407	0.885000	0.36088	0.460000	0.39030	CTG		0.617	FUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466194.1	NM_000148		34	310	0	0	0	1	0	34	310					G	49254054	A	G	49254054	3	3	180	1	0	0	0	0	1	0	0	0	6101	188	7	3	616	3	FUT1	19	49254054	Missense_Mutation	SNP	A	TCGA-E8-A417-01A-21D-A23M-08	122524	49254054	9874929	38	3795											
ADNP	23394	broad.mit.edu	37	chr20	49510462	49510462	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcatcaagggtttggatcgGggaaccactacatttgtgtg	13	7	1	0			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr20:49510462G>C	ENST00000396029.3	-	5	1356	c.789C>G	c.(787-789)ccC>ccG	p.P263P	ADNP_ENST00000371602.4_Silent_p.P263P|ADNP_ENST00000396032.3_Silent_p.P263P|ADNP_ENST00000349014.3_Silent_p.P263P	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	263					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						GTTTGGATCGGGGAACCACTA	0.488																																						ENST00000396029.3																			0				NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						c.(787-789)ccC>ccG		activity-dependent neuroprotector homeobox							113	92	99					20																	49510462		2203	4300	6503	SO:0001819	synonymous_variant	23394					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:49510462G>C	AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"Homeoboxes / ZF class"	15766	protein-coding gene	gene with protein product	"ADNP homeobox 1"	611386	"activity-dependent neuroprotector"			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.789C>G	20.37:g.49510462G>C						ADNP_ENST00000349014.3_Silent_p.P263P|ADNP_ENST00000371602.4_Silent_p.P263P|ADNP_ENST00000396032.3_Silent_p.P263P	p.P263P	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN			5	1356	-			263					E1P5Y2|O94881|Q5BKU2|Q9UG34	Silent	SNP	ENST00000396029.3	37	c.789C>G	CCDS13433.1																																																																																				0.488	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442		5	67	0	0	0	1	0	5	67					C	49510462	G	C	49510462	2	2	180	1	0	0	0	0	0	0	0	1	323	1219	43	4		4	ADNP	20	49510462	Silent	SNP	G	TCGA-E8-A417-01A-21D-A23M-08		49510462	13515058	39	3796											
TSHZ2	128553	broad.mit.edu	37	chr20	51871941	51871941	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaagccaaaaagaccgagctGggtcccctgaaggaggagga	15	9	0	2			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr20:51871941G>C	ENST00000371497.5	+	2	2831	c.1944G>C	c.(1942-1944)ctG>ctC	p.L648L	TSHZ2_ENST00000603338.2_Silent_p.L645L|TSHZ2_ENST00000329613.6_Silent_p.L645L|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	648					multicellular organismal development (GO:0007275)|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(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGACCGAGCTGGGTCCCCTGA	0.567																																						ENST00000371497.5																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(1942-1944)ctG>ctC		teashirt zinc finger homeobox 2							49	53	52					20																	51871941		2203	4300	6503	SO:0001819	synonymous_variant	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51871941G>C	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1944G>C	20.37:g.51871941G>C						TSHZ2_ENST00000329613.6_Silent_p.L645L|TSHZ2_ENST00000603338.2_Silent_p.L645L	p.L648L	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	2831	+			648					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Silent	SNP	ENST00000371497.5	37	c.1944G>C	CCDS33490.1																																																																																				0.567	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		6	107	0	0	0	1	0	6	107					C	51871941	G	C	51871941	2	2	180	1	0	0	0	0	0	0	0	1	16621	1335	47	4		4	TSHZ2	20	51871941	Silent	SNP	G	TCGA-E8-A417-01A-21D-A23M-08	2361479	51871941	11153579	40	3797											
DIDO1	11083	broad.mit.edu	37	chr20	61512380	61512381	+	Frame_Shift_Ins	INS	-	-	G													gtctccaaccgtggcggggcINSgggtgccctccccaggctct							TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr20:61512380_61512381insG	ENST00000266070.4	-	16	5252_5253	c.4927_4928insC	c.(4927-4929)cgcfs	p.R1643fs	DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.R1643fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1643					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGTGGCGGGGCGGGTGCCCTCC	0.728																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(4927-4929)cccfs		death inducer-obliterator 1																																				SO:0001589	frameshift_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512380_61512381insG	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4928dupC	20.37:g.61512383_61512383dupG	ENSP00000266070:p.Arg1643fs					DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.P1643fs	p.P1643fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	5252_5253	-	Breast(26;5.68e-08)		1643					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Frame_Shift_Ins	INS	ENST00000266070.4	37	c.4927_4928insC	CCDS33506.1																																																																																				0.728	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		14	40						14	40	---	---	---	---	G	61512381	-	G	61512380	7	5	180	1	0	1	1	0	0	0	0	0	4522	768	27	0	1798	0	DIDO1	20	61512380	Frame_Shift_Ins	INS	-	TCGA-E8-A417-01A-21D-A23M-08	9640439	61512380	1513140	41	3798											
MEI1	150365	broad.mit.edu	37	chr22	42154399	42154399	+	De_novo_Start_OutOfFrame	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtgtctgagctcctgcagcAtgggctgccccagataagca	12	12	1	2			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr22:42154399A>T	ENST00000300398.4	+	0	2007				MEI1_ENST00000540833.1_Missense_Mutation_p.H401L|MEI1_ENST00000400107.1_Missense_Mutation_p.H29L|MEI1_ENST00000540880.1_De_novo_Start_OutOfFrame|MEI1_ENST00000401548.3_Missense_Mutation_p.H661L					meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CTCCTGCAGCATGGGCTGCCC	0.527																																						ENST00000300398.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30								meiosis inhibitor 1							50	51	51					22																	42154399		1949	4142	6091			150365						binding	g.chr22:42154399A>T	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"spermatogenesis associated 38"	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000300398.4:c.-995A>T	22.37:g.42154399A>T						MEI1_ENST00000540833.1_Missense_Mutation_p.H401L|MEI1_ENST00000400107.1_Missense_Mutation_p.H29L|MEI1_ENST00000401548.3_Missense_Mutation_p.H661L|MEI1_ENST00000540880.1_De_novo_Start_OutOfFrame				Q5TIA1	MEI1_HUMAN			0	2007	+									Translation_Start_Site	SNP	ENST00000300398.4	37			.	.	.	.	.	.	.	.	.	.	A	8.603	0.887198	0.17540	.	.	ENSG00000167077	ENST00000401548;ENST00000540833;ENST00000400107	T;T;T	0.23348	3.64;3.64;1.91	4.86	3.79	0.43588	.	0.701297	0.14704	N	0.303397	T	0.23054	0.0557	L	0.51422	1.61	0.80722	D	1	B;B;B	0.29301	0.241;0.004;0.241	B;B;B	0.26416	0.069;0.004;0.069	T	0.02683	-1.1124	10	0.46703	T	0.11	-8.1448	8.8043	0.34927	0.8318:0.0:0.0:0.1682	.	29;29;661	Q5TIA1-3;Q5TIA1-2;Q5TIA1	.;.;MEI1_HUMAN	L	661;401;29	ENSP00000384115:H661L;ENSP00000444225:H401L;ENSP00000382978:H29L	ENSP00000382978:H29L	H	+	2	0	MEI1	40484345	0.163000	0.22920	0.624000	0.29186	0.096000	0.18686	0.449000	0.21744	0.767000	0.33267	0.459000	0.35465	CAT		0.527	MEI1-201	KNOWN	basic	protein_coding	protein_coding		NM_152513		8	56	0	0	0	1	0	8	56					T	42154399	A	T	42154399	1	4	180	1	0	1	0	0	0	0	0	0	9465	217	8	5		5	MEI1	22	42154399	De_novo_Start_OutOfFrame	SNP	A	TCGA-E8-A417-01A-21D-A23M-08		42154399	9150167	42	3799											
FRMPD4	9758	broad.mit.edu	37	chrX	12725620	12725620	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctcggaagtgactctcctGgttgggccccggtatggcat	14	12	1	1			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chrX:12725620G>A	ENST00000380682.1	+	13	1826	c.1320G>A	c.(1318-1320)ctG>ctA	p.L440L		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	440	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGACTCTCCTGGTTGGGCCCC	0.458																																						ENST00000380682.1																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(1318-1320)ctG>ctA		FERM and PDZ domain containing 4							105	100	102					X																	12725620		2203	4300	6503	SO:0001819	synonymous_variant	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12725620G>A	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.1320G>A	X.37:g.12725620G>A							p.L440L	NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN			13	1826	+			440			FERM.		A8K0X9|O15032	Silent	SNP	ENST00000380682.1	37	c.1320G>A	CCDS35201.1																																																																																				0.458	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		5	154	0	0	0	1	0	5	154					A	12725620	G	A	12725620	2	1	180	1	0	0	0	0	0	0	0	1	6059	1335	47	2		2	FRMPD4	23	12725620	Silent	SNP	G	TCGA-E8-A417-01A-21D-A23M-08		12725620	142544940	43	3800											
DRP2	1821	broad.mit.edu	37	chrX	100510212	100510212	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caaaattgctccttctttaaTgacagcttgtccccagatga	6	11	1	3			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chrX:100510212T>A	ENST00000395209.3	+	20	2747	c.2220T>A	c.(2218-2220)aaT>aaA	p.N740K	DRP2_ENST00000541709.1_Missense_Mutation_p.N662K|DRP2_ENST00000402866.1_Missense_Mutation_p.N740K|DRP2_ENST00000538510.1_Missense_Mutation_p.N740K	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	740					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CCTTCTTTAATGACAGCTTGT	0.463																																						ENST00000395209.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						c.(2218-2220)aaT>aaA		dystrophin related protein 2							173	146	155					X																	100510212		2203	4300	6503	SO:0001583	missense	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100510212T>A	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.2220T>A	X.37:g.100510212T>A	ENSP00000378635:p.Asn740Lys					DRP2_ENST00000541709.1_Missense_Mutation_p.N662K|DRP2_ENST00000402866.1_Missense_Mutation_p.N740K|DRP2_ENST00000538510.1_Missense_Mutation_p.N740K	p.N740K	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN			20	2747	+			740					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	c.2220T>A	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	T	13.18	2.160237	0.38119	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	4.77	4.77	0.60923	.	0.115101	0.64402	D	0.000020	T	0.79610	0.4475	M	0.65498	2.005	0.35455	D	0.796015	B	0.26400	0.148	B	0.24155	0.051	T	0.82323	-0.0514	10	0.62326	D	0.03	-13.7593	8.7564	0.34648	0.171:0.0:0.0:0.8289	.	740	Q13474	DRP2_HUMAN	K	740;740;662;740	ENSP00000385038:N740K;ENSP00000378635:N740K;ENSP00000444752:N662K;ENSP00000441051:N740K	ENSP00000378635:N740K	N	+	3	2	DRP2	100396868	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.108000	0.41854	1.764000	0.52075	0.381000	0.24937	AAT		0.463	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		7	222	0	0	0	1	0	7	222					A	100510212	T	A	100510212	3	1	180	1	0	0	0	0	1	0	0	0	4764	1461	51	5	2290	5	DRP2	23	100510212	Missense_Mutation	SNP	T	TCGA-E8-A417-01A-21D-A23M-08	87784592	100510212	54760348	44	3801											
RER1	11079	broad.mit.edu	37	chr1	2334476	2334476	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgtttctctccccagcaCatgattaagtaccggtacat	7	12	1	1			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr1:2334476C>T	ENST00000605895.1	+	7	637	c.504C>T	c.(502-504)caC>caT	p.H168H	RER1_ENST00000488353.1_Silent_p.H168H|RER1_ENST00000378512.1_3'UTR|RER1_ENST00000378513.3_3'UTR	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN	retention in endoplasmic reticulum sorting receptor 1	168				HAATKGILVAMVCTFFDAFNVPVFWPILVMYFIMLFCITMK RQIKHMIKYRYIPFTHGKRRYRGKEDAGKAFAS -> DASV CGDGRCSCKAGGGRQCPVLAADAALTFSPHLKACGYQGHPC GYGLYFLRRFQRPGVLADSGDVLHHALLYHDEEANQAHD (in Ref. 2; AAC72940). {ECO:0000305}.	positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)	cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of Golgi membrane (GO:0030173)				endometrium(3)|kidney(1)	4	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		CTCCCCAGCACATGATTAAGT	0.542																																						ENST00000605895.1																			0				endometrium(3)|kidney(1)	4						c.(502-504)caC>caT		retention in endoplasmic reticulum sorting receptor 1							125	121	122					1																	2334476		2033	4192	6225	SO:0001819	synonymous_variant	11079				retrograde vesicle-mediated transport, Golgi to ER	integral to Golgi membrane		g.chr1:2334476C>T	AF157324	CCDS41232.1	1p36	2013-10-18	2013-10-18		ENSG00000157916	ENSG00000157916			30309	protein-coding gene	gene with protein product			"RER1 retention in endoplasmic reticulum 1 homolog (S. cerevisiae)"			9309388, 17668005	Standard	NM_007033		Approved		uc001aje.2	O15258	OTTHUMG00000001403	ENST00000605895.1:c.504C>T	1.37:g.2334476C>T						RER1_ENST00000378513.3_3'UTR|RER1_ENST00000488353.1_Silent_p.H168H|RER1_ENST00000378512.1_3'UTR	p.H168H	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)	7	637	+	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	168	HAATKGILVAMVCTFFDAFNVPVFWPILVMYFIMLFCITMK RQIKHMIKYRYIPFTHGKRRYRGKEDAGKAFAS -> DASV CGDGRCSCKAGGGRQCPVLAADAALTFSPHLKACGYQGHPC GYGLYFLRRFQRPGVLADSGDVLHHALLYHDEEANQAHD (in Ref. 2; AAC72940).				O95322	Silent	SNP	ENST00000605895.1	37	c.504C>T	CCDS41232.1																																																																																				0.542	RER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004061.2			48	101	0	0	0	1	0	48	101					T	2334476	C	T	2334476	2	4	181	1	0	0	0	0	0	0	0	1	13230	477	17	2		2	RER1	1	2334476	Silent	SNP	C	TCGA-E8-A418-01A-11D-A23M-08		2334476	246916145	1	3802											
PADI1	29943	broad.mit.edu	37	chr1	17559436	17559436	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacggaataccccctgggCcggatcctcatcgggagcag	14	14	1	0			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr1:17559436C>T	ENST00000375471.4	+	11	1376	c.1284C>T	c.(1282-1284)ggC>ggT	p.G428G	PADI1_ENST00000537499.1_5'Flank|PADI1_ENST00000536552.1_5'Flank|PADI1_ENST00000413717.2_5'Flank	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	428					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	ACCCCCTGGGCCGGATCCTCA	0.692																																					Esophageal Squamous(80;414 1257 4580 27746 50832)	ENST00000375471.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28						c.(1282-1284)ggC>ggT		peptidyl arginine deiminase, type I	L-Citrulline(DB00155)						20	18	19					1																	17559436		2203	4300	6503	SO:0001819	synonymous_variant	29943				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17559436C>T	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"Peptidyl arginine deiminases"	18367	protein-coding gene	gene with protein product	"peptidylarginine deiminase type I", "protein-arginine deiminase type-1", "hPAD-colony 10"	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.1284C>T	1.37:g.17559436C>T							p.G428G	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	11	1376	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	428					A1L4K6|Q70SX6	Silent	SNP	ENST00000375471.4	37	c.1284C>T	CCDS178.1																																																																																				0.692	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358		18	18	0	0	0	1	0	18	18					T	17559436	C	T	17559436	2	4	181	1	0	0	0	0	0	0	0	1	11377	726	26	2		2	PADI1	1	17559436	Silent	SNP	C	TCGA-E8-A418-01A-11D-A23M-08	15224960	17559436	231691185	2	3803											
DLEC1	9940	broad.mit.edu	37	chr3	38087109	38087109	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcactcaggcccaagcacggGctattgcggaaaatgagcgg	13	11	2	1			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr3:38087109G>C	ENST00000308059.6	+	2	508	c.487G>C	c.(487-489)Gct>Cct	p.A163P	DLEC1_ENST00000346219.3_Missense_Mutation_p.A163P|DLEC1_ENST00000452631.2_Missense_Mutation_p.A163P					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCAAGCACGGGCTATTGCGGA	0.532																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(487-489)Gct>Cct		deleted in lung and esophageal cancer 1							71	72	71					3																	38087109		1926	4133	6059	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38087109G>C	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.487G>C	3.37:g.38087109G>C	ENSP00000308597:p.Ala163Pro					DLEC1_ENST00000452631.2_Missense_Mutation_p.A163P|DLEC1_ENST00000346219.3_Missense_Mutation_p.A163P	p.A163P			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	2	508	+			163						Missense_Mutation	SNP	ENST00000308059.6	37	c.487G>C	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	13.75	2.331361	0.41297	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.10573	2.89;2.86;3.12	4.8	2.96	0.34315	.	0.406939	0.26788	N	0.022495	T	0.25494	0.0620	M	0.71036	2.16	0.32744	N	0.507318	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.988;0.993;0.988	T	0.24012	-1.0172	10	0.52906	T	0.07	-12.1907	5.3328	0.15942	0.1027:0.0:0.6958:0.2015	.	163;163;163	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	P	163	ENSP00000308597:A163P;ENSP00000315914:A163P;ENSP00000410427:A163P	ENSP00000308597:A163P	A	+	1	0	DLEC1	38062113	0.994000	0.37717	0.568000	0.28447	0.021000	0.10359	1.122000	0.31295	0.592000	0.29728	0.655000	0.94253	GCT		0.532	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		53	52	0	0	0	1	0	53	52					C	38087109	G	C	38087109	3	2	181	1	0	0	0	0	1	0	0	0	4552	1203	42	4	493	4	DLEC1	3	38087109	Missense_Mutation	SNP	G	TCGA-E8-A418-01A-11D-A23M-08		38087109	159935321	3	3804											
KTELC1	56983	broad.mit.edu	37	chr3	119210390	119210390	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttacaatttgtaaaagcaAatgatgatgtagctcaagag	9	4	1	3			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr3:119210390A>G	ENST00000295588.4	+	10	1075	c.991A>G	c.(991-993)Aat>Gat	p.N331D		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	331					cardiovascular system development (GO:0072358)|Notch signaling pathway (GO:0007219)|protein O-linked glycosylation (GO:0006493)|regulation of Notch signaling pathway (GO:0008593)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	glucosyltransferase activity (GO:0046527)|protein xylosyltransferase activity (GO:0030158)|UDP-glucosyltransferase activity (GO:0035251)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						TGTAAAAGCAAATGATGATGT	0.348																																						ENST00000295588.4																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						c.(991-993)Aat>Gat		protein O-glucosyltransferase 1							187	177	181					3																	119210390		2203	4300	6503	SO:0001583	missense	56983					endoplasmic reticulum lumen	UDP-glucosyltransferase activity	g.chr3:119210390A>G	BC030614	CCDS2988.1	3q13.33	2010-09-29	2010-09-29	2010-09-29	ENSG00000163389	ENSG00000163389			22954	protein-coding gene	gene with protein product	"KDELC family like 1"	615618	"chromosome 3 open reading frame 9", "KTEL (Lys-Tyr-Glu-Leu) containing 1"	C3orf9, KTELC1		16524674	Standard	NM_152305		Approved	MDS010, MGC32995, 9630046K23Rik, MDSRP, hCLP46, KDELCL1, Rumi	uc003ecm.3	Q8NBL1	OTTHUMG00000159379	ENST00000295588.4:c.991A>G	3.37:g.119210390A>G	ENSP00000295588:p.Asn331Asp						p.N331D	NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN			10	1075	+			331					B2RD13|Q53GJ4|Q8N2T1	Missense_Mutation	SNP	ENST00000295588.4	37	c.991A>G	CCDS2988.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.586141	0.86851	.	.	ENSG00000163389	ENST00000295588	T	0.24538	1.85	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.51822	0.1697	M	0.82716	2.605	0.58432	D	0.999999	D	0.76494	0.999	D	0.79108	0.992	T	0.53767	-0.8392	10	0.42905	T	0.14	-27.2785	11.909	0.52729	1.0:0.0:0.0:0.0	.	331	Q8NBL1	PGLT1_HUMAN	D	331	ENSP00000295588:N331D	ENSP00000295588:N331D	N	+	1	0	POGLUT1	120693080	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.233000	0.78125	2.304000	0.77564	0.528000	0.53228	AAT		0.348	POGLUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355034.2	NM_152305		11	22	0	0	0	1	0	11	22					G	119210390	A	G	119210390	3	3	181	1	0	0	0	0	1	0	0	0	8583	14	1	3	1029	3	KTELC1	3	119210390	Missense_Mutation	SNP	A	TCGA-E8-A418-01A-11D-A23M-08	81123281	119210390	78812040	4	3805											
EVC	2121	broad.mit.edu	37	chr4	5755545	5755545	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcaaagacctggtcacggCgtctctggctcaccaggtgg	14	12	3	1			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr4:5755545C>A	ENST00000264956.6	+	10	1533	c.1349C>A	c.(1348-1350)gCg>gAg	p.A450E	EVC_ENST00000382674.2_Missense_Mutation_p.A450E|EVC_ENST00000509451.1_Missense_Mutation_p.A450E	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	450					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CTGGTCACGGCGTCTCTGGCT	0.582																																						ENST00000382674.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28						c.(1348-1350)gCg>gAg		Ellis van Creveld syndrome							104	102	102					4																	5755545		2203	4300	6503	SO:0001583	missense	2121				muscle organ development	integral to membrane		g.chr4:5755545C>A	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.1349C>A	4.37:g.5755545C>A	ENSP00000264956:p.Ala450Glu					EVC_ENST00000264956.6_Missense_Mutation_p.A450E|EVC_ENST00000509451.1_Missense_Mutation_p.A450E	p.A450E			P57679	EVC_HUMAN			10	1533	+		Myeloproliferative disorder(84;0.117)	450						Missense_Mutation	SNP	ENST00000264956.6	37	c.1349C>A	CCDS3383.1	.	.	.	.	.	.	.	.	.	.	C	1.736	-0.492957	0.04322	.	.	ENSG00000072840	ENST00000264956;ENST00000382674;ENST00000509451	T;T;T	0.48836	0.8;0.8;0.87	5.04	1.06	0.20224	.	0.507102	0.19949	N	0.102479	T	0.31918	0.0812	L	0.60455	1.87	0.19575	N	0.999962	B	0.23735	0.09	B	0.21151	0.033	T	0.32534	-0.9903	10	0.02654	T	1	.	4.4668	0.11692	0.4162:0.4124:0.0:0.1715	.	450	P57679	EVC_HUMAN	E	450	ENSP00000264956:A450E;ENSP00000372120:A450E;ENSP00000426774:A450E	ENSP00000264956:A450E	A	+	2	0	EVC	5806446	0.030000	0.19436	0.004000	0.12327	0.327000	0.28475	0.658000	0.24979	0.159000	0.19401	-1.157000	0.01802	GCG		0.582	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			68	87	1	0	1.53134e-21	1	1.64691e-21	68	87					A	5755545	C	A	5755545	3	1	181	1	0	0	0	0	1	0	0	0	5285	768	27	4	1387	4	EVC	4	5755545	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08		5755545	185398731	5	3806											
ADH1B	125	broad.mit.edu	37	chr4	100232046	100232046	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cacaagttttgggataccttCtttactcttaaagcctgaaa	6	9	2	1			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr4:100232046C>G	ENST00000305046.8	-	8	1046	c.979G>C	c.(979-981)Gaa>Caa	p.E327Q	ADH1B_ENST00000394887.3_Missense_Mutation_p.E287Q			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	327					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	GGGATACCTTCTTTACTCTTA	0.328																																						ENST00000305046.8																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33						c.(979-981)Gaa>Caa		alcohol dehydrogenase 1B (class I), beta polypeptide	Fomepizole(DB01213)|NADH(DB00157)						119	122	121					4																	100232046		2203	4299	6502	SO:0001583	missense	125				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	g.chr4:100232046C>G	AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"Alcohol dehydrogenases"	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.979G>C	4.37:g.100232046C>G	ENSP00000306606:p.Glu327Gln					ADH1B_ENST00000394887.3_Missense_Mutation_p.E287Q	p.E327Q			P00325	ADH1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	8	1046	-			327					A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Missense_Mutation	SNP	ENST00000305046.8	37	c.979G>C	CCDS34033.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.470595	0.26423	.	.	ENSG00000196616	ENST00000305046;ENST00000394887;ENST00000412614	T;T	0.08984	3.03;3.03	3.66	3.66	0.41972	GroES-like (1);Alcohol dehydrogenase, C-terminal (1);	0.296273	0.34507	N	0.003903	T	0.13927	0.0337	N	0.17838	0.53	0.58432	D	0.999999	B;B;B	0.25772	0.005;0.006;0.134	B;B;P	0.47864	0.016;0.04;0.559	T	0.38802	-0.9644	10	0.54805	T	0.06	-8.8668	15.3228	0.74135	0.0:1.0:0.0:0.0	.	314;287;327	F5HB16;A8MYN5;P00325	.;.;ADH1B_HUMAN	Q	327;287;314	ENSP00000306606:E327Q;ENSP00000378351:E287Q	ENSP00000306606:E327Q	E	-	1	0	ADH1B	100451069	1.000000	0.71417	0.604000	0.28916	0.046000	0.14306	5.193000	0.65120	1.722000	0.51474	0.561000	0.74099	GAA		0.328	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668		74	117	0	0	0	1	0	74	117					G	100232046	C	G	100232046	3	3	181	1	0	0	0	0	1	0	0	0	308	922	32	4	156	4	ADH1B	4	100232046	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08	94476501	100232046	90922230	6	3807											
ZFP42	132625	broad.mit.edu	37	chr4	188924786	188924786	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacacgggggagaaacgtttCgtgtgtccctttcaaggctg	13	10	1	1			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr4:188924786C>T	ENST00000326866.4	+	4	1233	c.825C>T	c.(823-825)ttC>ttT	p.F275F	ZFP42_ENST00000509524.1_Silent_p.F275F	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	275					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		AGAAACGTTTCGTGTGTCCCT	0.488																																						ENST00000326866.4																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27						c.(823-825)ttC>ttT		ZFP42 zinc finger protein							72	69	70					4																	188924786		2203	4300	6503	SO:0001819	synonymous_variant	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924786C>T	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"Zinc fingers, C2H2-type"	30949	protein-coding gene	gene with protein product		614572	"zinc finger protein 42 homolog (mouse)", "zinc finger protein 42"			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.825C>T	4.37:g.188924786C>T						ZFP42_ENST00000509524.1_Silent_p.F275F	p.F275F	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	4	1233	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	275					D3DP65|Q8WXE2	Silent	SNP	ENST00000326866.4	37	c.825C>T	CCDS3849.1																																																																																				0.488	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		4	101	0	0	0	1	0	4	101					T	188924786	C	T	188924786	2	4	181	1	0	0	0	0	0	0	0	1	17647	883	31	1		1	ZFP42	4	188924786	Silent	SNP	C	TCGA-E8-A418-01A-11D-A23M-08	88692740	188924786	2229490	7	3808											
HCN1	348980	broad.mit.edu	37	chr5	45262720	45262720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggagattgtgtcctcatgCgggaggtcggggtcgtagta	18	6	1	1			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr5:45262720C>T	ENST00000303230.4	-	8	2033	c.1976G>A	c.(1975-1977)cGc>cAc	p.R659H		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	659					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.R659L(2)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGTCCTCATGCGGGAGGTCGG	0.567																																						ENST00000303230.4																			2	Substitution - Missense(2)	p.R659L(2)	lung(2)	NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(1975-1977)cGc>cAc		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							171	165	167					5																	45262720		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262720C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1976G>A	5.37:g.45262720C>T	ENSP00000307342:p.Arg659His						p.R659H	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			8	2033	-			659						Missense_Mutation	SNP	ENST00000303230.4	37	c.1976G>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	0.072	-1.201204	0.01581	.	.	ENSG00000164588	ENST00000303230	T	0.75704	-0.96	5.52	4.65	0.58169	.	0.000000	0.52532	D	0.000078	T	0.63792	0.2541	L	0.44542	1.39	0.40974	D	0.98472	B	0.18968	0.032	B	0.12156	0.007	T	0.58165	-0.7684	10	0.08837	T	0.75	.	13.4624	0.61235	0.0:0.9252:0.0:0.0748	.	659	O60741	HCN1_HUMAN	H	659	ENSP00000307342:R659H	ENSP00000307342:R659H	R	-	2	0	HCN1	45298477	0.813000	0.29090	0.260000	0.24451	0.060000	0.15804	3.283000	0.51701	1.339000	0.45563	-0.140000	0.14226	CGC		0.567	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		62	67	0	0	0	1	0	62	67					T	45262720	C	T	45262720	3	4	181	1	0	0	0	0	1	0	0	0	6996	768	27	1	700	1	HCN1	5	45262720	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08		45262720	135652540	8	3809											
PCSK1	5122	broad.mit.edu	37	chr5	95728775	95728775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtgcttgtaaggtttaGtgttataaaaaacatcaaca	7	6	2	0			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr5:95728775G>A	ENST00000311106.3	-	14	2429	c.2192C>T	c.(2191-2193)aCt>aTt	p.T731I	PCSK1_ENST00000513085.1_5'UTR|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.T684I	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	731					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	GTAAGGTTTAGTGTTATAAAA	0.398																																						ENST00000311106.3																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36						c.(2191-2193)aCt>aTt		proprotein convertase subtilisin/kexin type 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						148	153	151					5																	95728775		2203	4300	6503	SO:0001583	missense	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95728775G>A		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"prohormone convertase 3", "prohormone convertase 1", "neuroendocrine convertase 1", "proprotein convertase 1"	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.2192C>T	5.37:g.95728775G>A	ENSP00000308024:p.Thr731Ile					PCSK1_ENST00000508626.1_Missense_Mutation_p.T684I|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR	p.T731I	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	14	2429	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	731					B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	ENST00000311106.3	37	c.2192C>T	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833999	0.50951	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	T;T	0.67171	-0.09;-0.25	6.03	5.14	0.70334	Prohormone convertase enzyme (1);	0.157985	0.64402	D	0.000016	T	0.58264	0.2110	L	0.29908	0.895	0.33613	D	0.603839	B;B	0.10296	0.003;0.0	B;B	0.12837	0.008;0.005	T	0.65005	-0.6273	10	0.72032	D	0.01	-9.368	16.8498	0.85991	0.0:0.1286:0.8714:0.0	.	684;731	E9PHA1;P29120	.;NEC1_HUMAN	I	731;684	ENSP00000308024:T731I;ENSP00000421600:T684I	ENSP00000308024:T731I	T	-	2	0	PCSK1	95754531	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	3.123000	0.50453	1.518000	0.48934	0.655000	0.94253	ACT		0.398	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		25	292	0	0	0	1	0	25	292					A	95728775	G	A	95728775	3	1	181	1	0	0	0	0	1	0	0	0	11600	1029	36	2	73	2	PCSK1	5	95728775	Missense_Mutation	SNP	G	TCGA-E8-A418-01A-11D-A23M-08	50466055	95728775	85186485	9	3810											
KIAA0240	23506	broad.mit.edu	37	chr6	42830261	42830261	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttttcagcgaatcaatccctCtgctgagatggtgatgatcg	10	9	3	3			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr6:42830261C>G	ENST00000314073.5	+	12	2539	c.2363C>G	c.(2362-2364)tCt>tGt	p.S788C	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.S788C			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	788																	ATCAATCCCTCTGCTGAGATG	0.403																																						ENST00000314073.5																			0											c.(2362-2364)tCt>tGt		GLTSCR1-like							168	167	167					6																	42830261		2203	4300	6503	SO:0001583	missense	23506							g.chr6:42830261C>G	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"KIAA0240"	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.2363C>G	6.37:g.42830261C>G	ENSP00000313933:p.Ser788Cys					GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.S788C	p.S788C							12	2539	+								A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	37	c.2363C>G	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126115	0.77549	.	.	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	T;T	0.64260	-0.09;-0.09	5.27	5.27	0.74061	.	0.182364	0.39615	N	0.001302	T	0.73590	0.3606	M	0.73962	2.25	0.48571	D	0.999677	P	0.51933	0.949	P	0.59948	0.866	T	0.77242	-0.2660	10	0.87932	D	0	-5.4751	18.96	0.92674	0.0:1.0:0.0:0.0	.	788	Q6AI39	K0240_HUMAN	C	788	ENSP00000313933:S788C;ENSP00000377723:S788C	ENSP00000313933:S788C	S	+	2	0	KIAA0240	42938239	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	7.011000	0.76359	2.456000	0.83038	0.449000	0.29647	TCT		0.403	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		12	257	0	0	0	1	0	12	257					G	42830261	C	G	42830261	3	3	181	1	0	0	0	0	1	0	0	0	8164	913	32	4	2401	4	KIAA0240	6	42830261	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08		42830261	128284806	10	3811											
INTS1	26173	broad.mit.edu	37	chr7	1527562	1527562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccgtccgggtctcctcatCcgtcagggtgcacggtgggt	14	14	3	0			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr7:1527562C>T	ENST00000404767.3	-	19	2435	c.2350G>A	c.(2350-2352)Gat>Aat	p.D784N	INTS1_ENST00000389470.4_Missense_Mutation_p.D912N	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	784					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GTCTCCTCATCCGTCAGGGTG	0.677																																						ENST00000389470.4																			0				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62						c.(2734-2736)Gat>Aat		integrator complex subunit 1							113	127	122					7																	1527562		2117	4230	6347	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1527562C>T	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.2350G>A	7.37:g.1527562C>T	ENSP00000385722:p.Asp784Asn					INTS1_ENST00000404767.3_Missense_Mutation_p.D784N	p.D912N			Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	20	2733	-		Ovarian(82;0.0253)	784					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.2734G>A	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198138	0.58126	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.48836	0.8;0.83	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.40791	0.1131	L	0.46157	1.445	0.80722	D	1	B;B	0.33413	0.294;0.411	B;B	0.28709	0.093;0.072	T	0.27640	-1.0068	10	0.21540	T	0.41	.	17.7192	0.88345	0.0:1.0:0.0:0.0	.	912;784	A4D213;Q8N201	.;INT1_HUMAN	N	784;912	ENSP00000385722:D784N;ENSP00000374121:D912N	ENSP00000374121:D912N	D	-	1	0	INTS1	1494088	1.000000	0.71417	0.997000	0.53966	0.527000	0.34593	7.316000	0.79007	2.186000	0.69663	0.561000	0.74099	GAT		0.677	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			8	290	0	0	0	1	0	8	290					T	1527562	C	T	1527562	3	4	181	1	0	0	0	0	1	0	0	0	7775	855	30	2	4342	2	INTS1	7	1527562	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08		1527562	157611101	11	3812											
SLC13A1	6561	broad.mit.edu	37	chr7	122821049	122821049	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcttagaaggcatgatcccaAacatgggtaacattaaacta	7	8	1	2			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr7:122821049A>T	ENST00000194130.2	-	2	245	c.206T>A	c.(205-207)tTt>tAt	p.F69Y	SLC13A1_ENST00000539873.1_Missense_Mutation_p.F5Y	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	69					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	CATGATCCCAAACATGGGTAA	0.398																																						ENST00000194130.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45						c.(205-207)tTt>tAt		solute carrier family 13 (sodium/sulfate symporter), member 1	Succinic acid(DB00139)						117	103	108					7																	122821049		2203	4300	6503	SO:0001583	missense	6561					integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122821049A>T		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"Solute carriers"	10916	protein-coding gene	gene with protein product		606193	"solute carrier family 13 (sodium/sulphate symporters), member 1"			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.206T>A	7.37:g.122821049A>T	ENSP00000194130:p.Phe69Tyr					SLC13A1_ENST00000539873.1_Missense_Mutation_p.F5Y	p.F69Y	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN			2	245	-			69					Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	c.206T>A	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	A	16.97	3.267741	0.59540	.	.	ENSG00000081800	ENST00000194130;ENST00000539873	T;T	0.26957	4.15;1.7	6.16	5.0	0.66597	.	0.091920	0.85682	N	0.000000	T	0.38427	0.1040	M	0.87900	2.915	0.48696	D	0.999694	B	0.31241	0.315	B	0.35312	0.2	T	0.29150	-1.0021	10	0.54805	T	0.06	.	12.1431	0.54008	0.8717:0.0:0.0:0.1283	.	69	Q9BZW2	S13A1_HUMAN	Y	69;5	ENSP00000194130:F69Y;ENSP00000441309:F5Y	ENSP00000194130:F69Y	F	-	2	0	SLC13A1	122608285	1.000000	0.71417	0.925000	0.36789	0.795000	0.44927	6.893000	0.75649	1.117000	0.41842	0.528000	0.53228	TTT		0.398	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		33	32	0	0	0	1	0	33	32					T	122821049	A	T	122821049	3	4	181	1	0	0	0	0	1	0	0	0	14391	14	1	5	1637	5	SLC13A1	7	122821049	Missense_Mutation	SNP	A	TCGA-E8-A418-01A-11D-A23M-08	121293487	122821049	36317614	12	3813											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		46	61	0	0	0	1	0	46	61					T	140453136	A	T	140453136	3	4	181	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E8-A418-01A-11D-A23M-08	17632087	140453136	18685527	13	3814											
INTS10	55174	broad.mit.edu	37	chr8	19677984	19677984	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttagaacgatcagaaatgttGcttctacttttgaggcgctt	9	7	2	3			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr8:19677984G>T	ENST00000397977.3	+	4	794	c.396G>T	c.(394-396)ttG>ttT	p.L132F	INTS10_ENST00000521758.1_Intron	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	132	Poly-Leu.				snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		CAGAAATGTTGCTTCTACTTT	0.423																																						ENST00000397977.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20						c.(394-396)ttG>ttT		integrator complex subunit 10							131	124	126					8																	19677984		1919	4125	6044	SO:0001583	missense	55174				snRNA processing	integrator complex	protein binding	g.chr8:19677984G>T	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"chromosome 8 open reading frame 35"	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.396G>T	8.37:g.19677984G>T	ENSP00000381064:p.Leu132Phe					INTS10_ENST00000521758.1_Intron	p.L132F	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	4	794	+			132			Poly-Leu.		Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Missense_Mutation	SNP	ENST00000397977.3	37	c.396G>T	CCDS6011.2	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268806	0.80469	.	.	ENSG00000104613	ENST00000397977	.	.	.	5.86	2.62	0.31277	.	0.000000	0.85682	D	0.000000	T	0.67599	0.2910	L	0.55481	1.735	0.50467	D	0.999874	D	0.76494	0.999	D	0.83275	0.996	T	0.67421	-0.5675	9	0.66056	D	0.02	-17.9758	9.2686	0.37657	0.1559:0.1261:0.718:0.0	.	132	Q9NVR2	INT10_HUMAN	F	132	.	ENSP00000381064:L132F	L	+	3	2	INTS10	19722264	1.000000	0.71417	0.871000	0.34182	0.929000	0.56500	1.257000	0.32932	0.794000	0.33899	0.655000	0.94253	TTG		0.423	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		39	78	1	0	3.66854e-30	1	4.02129e-30	39	78					T	19677984	G	T	19677984	3	4	181	1	0	0	0	0	1	0	0	0	7776	1310	46	4	410	4	INTS10	8	19677984	Missense_Mutation	SNP	G	TCGA-E8-A418-01A-11D-A23M-08		19677984	126686038	14	3815											
WISP1	8840	broad.mit.edu	37	chr8	134232918	134232918	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaactgcacgtgcatcgaCggcgcggtgggctgcacacc	13	14	0	0			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr8:134232918C>T	ENST00000250160.6	+	3	550	c.444C>T	c.(442-444)gaC>gaT	p.D148D	WISP1_ENST00000220856.6_Intron|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000519433.1_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	148	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)		p.D148E(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CGTGCATCGACGGCGCGGTGG	0.667																																						ENST00000250160.6																			1	Substitution - Missense(1)	p.D148E(1)	lung(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21						c.(442-444)gaC>gaT		WNT1 inducible signaling pathway protein 1							98	82	87					8																	134232918		2203	4300	6503	SO:0001819	synonymous_variant	8840				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr8:134232918C>T	AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415			12769	protein-coding gene	gene with protein product		603398				9843955	Standard	NM_003882		Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000250160.6:c.444C>T	8.37:g.134232918C>T						WISP1_ENST00000519433.1_Intron|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000220856.6_Intron	p.D148D	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		3	550	+	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		148			VWFC.		A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Silent	SNP	ENST00000250160.6	37	c.444C>T	CCDS6371.1																																																																																				0.667	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2	NM_003882		64	122	0	0	0	1	0	64	122					T	134232918	C	T	134232918	2	4	181	1	0	0	0	0	0	0	0	1	17369	535	19	1		1	WISP1	8	134232918	Silent	SNP	C	TCGA-E8-A418-01A-11D-A23M-08	114554934	134232918	12131104	15	3816											
FAM122A	116224	broad.mit.edu	37	chr9	71395286	71395286	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaacgttcccgagccgccAcggcctgctgctgccggcct	11	19	0	0			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr9:71395286A>G	ENST00000394264.3	+	1	323	c.206A>G	c.(205-207)cAc>cGc	p.H69R	PIP5K1B_ENST00000265382.3_Intron|PIP5K1B_ENST00000541509.1_Intron	NM_138333.3	NP_612206.3	Q96E09	F122A_HUMAN	family with sequence similarity 122A	69										endometrium(1)|lung(2)	3						CCGAGCCGCCACGGCCTGCTG	0.657																																						ENST00000394264.3																			0				endometrium(1)|lung(2)	3						c.(205-207)cAc>cGc		family with sequence similarity 122A							36	42	40					9																	71395286		2203	4290	6493	SO:0001583	missense	116224							g.chr9:71395286A>G	AK126379	CCDS6623.1	9q21.13	2011-02-10	2006-07-11	2006-07-11	ENSG00000187866	ENSG00000187866			23490	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 42"	C9orf42		12477932	Standard	NM_138333		Approved	MGC17347	uc004agw.1	Q96E09	OTTHUMG00000019971	ENST00000394264.3:c.206A>G	9.37:g.71395286A>G	ENSP00000377807:p.His69Arg					PIP5K1B_ENST00000265382.3_Intron|PIP5K1B_ENST00000541509.1_Intron	p.H69R	NM_138333.3	NP_612206.3	Q96E09	F122A_HUMAN			1	323	+			69						Missense_Mutation	SNP	ENST00000394264.3	37	c.206A>G	CCDS6623.1	.	.	.	.	.	.	.	.	.	.	A	11.46	1.645583	0.29246	.	.	ENSG00000187866	ENST00000394264	T	0.56275	0.47	4.2	3.04	0.35103	.	0.106321	0.64402	D	0.000003	T	0.44286	0.1286	M	0.64170	1.965	0.33247	D	0.558009	B	0.28636	0.218	B	0.22386	0.039	T	0.53387	-0.8446	10	0.37606	T	0.19	-18.1578	7.8573	0.29489	0.7892:0.2108:0.0:0.0	.	69	Q96E09	F122A_HUMAN	R	69	ENSP00000377807:H69R	ENSP00000377807:H69R	H	+	2	0	FAM122A	70585106	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.391000	0.44424	0.929000	0.37192	0.460000	0.39030	CAC		0.657	FAM122A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052556.1	NM_138333		58	100	0	0	0	1	0	58	100					G	71395286	A	G	71395286	3	3	181	1	0	0	0	0	1	0	0	0	5419	159	6	3	208	3	FAM122A	9	71395286	Missense_Mutation	SNP	A	TCGA-E8-A418-01A-11D-A23M-08		71395286	69818145	16	3817											
MUC6	4588	broad.mit.edu	37	chr11	1029335	1029335	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gtgtccggggcacggccgctCcgtgcacacccagcggccca	14	18	0	0			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr11:1029335C>G	ENST00000421673.2	-	10	1218	c.1168G>C	c.(1168-1170)Gag>Cag	p.E390Q		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	390					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CACGGCCGCTCCGTGCACACC	0.687																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(1168-1170)Gag>Cag		mucin 6, oligomeric mucus/gel-forming							13	15	14					11																	1029335		2050	4166	6216	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1029335C>G	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.1168G>C	11.37:g.1029335C>G	ENSP00000406861:p.Glu390Gln						p.E390Q	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	10	1218	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	390					O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.1168G>C	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.030251	0.35797	.	.	ENSG00000184956	ENST00000421673	T	0.65178	-0.14	4.56	2.58	0.30949	von Willebrand factor, type D domain (1);	0.000000	0.31177	U	0.008110	T	0.45276	0.1334	L	0.37697	1.125	0.09310	N	1	B	0.31485	0.325	B	0.28385	0.089	T	0.30937	-0.9961	10	0.41790	T	0.15	.	5.9115	0.19031	0.0:0.6682:0.1582:0.1735	.	390	Q6W4X9	MUC6_HUMAN	Q	390	ENSP00000406861:E390Q	ENSP00000406861:E390Q	E	-	1	0	MUC6	1019335	0.979000	0.34478	0.006000	0.13384	0.034000	0.12701	3.909000	0.56363	0.426000	0.26116	0.313000	0.20887	GAG		0.687	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		9	21	0	0	0	1	0	9	21					G	1029335	C	G	1029335	3	3	181	1	0	0	0	0	1	0	0	0	9980	864	30	4	6247	4	MUC6	11	1029335	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08		1029335	133977181	17	3818											
PDHX	8050	broad.mit.edu	37	chr11	34938261	34938261	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgttatcttgtgggctTccccggccgccgaagcgtag	14	13	1	0			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr11:34938261T>G	ENST00000227868.4	+	1	143	c.59T>G	c.(58-60)tTc>tGc	p.F20C	APIP_ENST00000527830.1_5'Flank|PDHX_ENST00000448838.3_Intron|APIP_ENST00000395787.3_5'Flank|PDHX_ENST00000430469.2_Missense_Mutation_p.F20C|APIP_ENST00000278359.5_5'Flank			O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	20					cellular metabolic process (GO:0044237)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			CTTGTGGGCTTCCCCGGCCGC	0.642																																						ENST00000227868.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16						c.(58-60)tTc>tGc		pyruvate dehydrogenase complex, component X							33	38	36					11																	34938261		2202	4298	6500	SO:0001583	missense	8050				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity	g.chr11:34938261T>G	U82328	CCDS7896.1, CCDS44569.1, CCDS53616.1	11p13	2008-02-05			ENSG00000110435	ENSG00000110435			21350	protein-coding gene	gene with protein product		608769				9467010, 12372595	Standard	NM_003477		Approved	E3BP, proX, PDX1, OPDX, DLDBP	uc001mvt.3	O00330	OTTHUMG00000166491	ENST00000227868.4:c.59T>G	11.37:g.34938261T>G	ENSP00000227868:p.Phe20Cys					PDHX_ENST00000430469.2_Missense_Mutation_p.F20C|PDHX_ENST00000448838.3_Intron	p.F20C			O00330	ODPX_HUMAN	STAD - Stomach adenocarcinoma(6;0.00113)		1	143	+	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	20					B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Missense_Mutation	SNP	ENST00000227868.4	37	c.59T>G	CCDS7896.1	.	.	.	.	.	.	.	.	.	.	T	15.95	2.983793	0.53827	.	.	ENSG00000110435	ENST00000227868;ENST00000430469;ENST00000533262	T;T;T	0.38722	1.94;1.12;1.82	5.26	2.91	0.33838	.	0.398394	0.25503	N	0.030234	T	0.27454	0.0674	.	.	.	0.09310	N	1	P;P	0.51653	0.876;0.947	B;B	0.40101	0.319;0.319	T	0.12811	-1.0533	9	0.41790	T	0.15	-1.8589	5.7665	0.18229	0.0:0.2142:0.0:0.7858	.	20;20	E9PBP7;O00330	.;ODPX_HUMAN	C	20	ENSP00000227868:F20C;ENSP00000415695:F20C;ENSP00000432277:F20C	ENSP00000227868:F20C	F	+	2	0	PDHX	34894837	0.772000	0.28567	0.002000	0.10522	0.008000	0.06430	1.217000	0.32455	1.012000	0.39366	0.459000	0.35465	TTC		0.642	PDHX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390017.1	NM_003477		22	31	0	0	0	1	0	22	31					G	34938261	T	G	34938261	3	3	181	1	0	0	0	0	1	0	0	0	11667	1783	62	5	180	5	PDHX	11	34938261	Missense_Mutation	SNP	T	TCGA-E8-A418-01A-11D-A23M-08	33908926	34938261	100068255	18	3819											
SAPS3	55291	broad.mit.edu	37	chr11	68369335	68369335	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctcttttttgaaagcacaAaagattctttaaggagtaat	6	5	2	2			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr11:68369335A>G	ENST00000393800.2	+	21	2451	c.2197A>G	c.(2197-2199)Aaa>Gaa	p.K733E	PPP6R3_ENST00000524845.1_Missense_Mutation_p.K704E|PPP6R3_ENST00000524904.1_Missense_Mutation_p.K727E|PPP6R3_ENST00000527403.2_Missense_Mutation_p.K698E|PPP6R3_ENST00000393801.3_Missense_Mutation_p.K733E|PPP6R3_ENST00000529710.1_Missense_Mutation_p.K653E|PPP6R3_ENST00000534534.1_Missense_Mutation_p.K501E|PPP6R3_ENST00000265636.5_Missense_Mutation_p.K653E|PPP6R3_ENST00000265637.4_Missense_Mutation_p.K687E|PPP6R3_ENST00000393799.2_Missense_Mutation_p.K733E	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	733					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGAAAGCACAAAAGATTCTTT	0.443																																						ENST00000393799.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2197-2199)Aaa>Gaa		protein phosphatase 6, regulatory subunit 3							89	98	95					11																	68369335		2200	4294	6494	SO:0001583	missense	55291				regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	g.chr11:68369335A>G	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	1173	protein-coding gene	gene with protein product	"sporulation-induced transcript 4-associated protein"	610879	"chromosome 11 open reading frame 23", "SAPS domain family, member 3"	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.2197A>G	11.37:g.68369335A>G	ENSP00000377389:p.Lys733Glu					PPP6R3_ENST00000393801.3_Missense_Mutation_p.K733E|PPP6R3_ENST00000393800.2_Missense_Mutation_p.K733E|PPP6R3_ENST00000265636.5_Missense_Mutation_p.K653E|PPP6R3_ENST00000265637.4_Missense_Mutation_p.K687E|PPP6R3_ENST00000527403.2_Missense_Mutation_p.K698E|PPP6R3_ENST00000524845.1_Missense_Mutation_p.K704E|PPP6R3_ENST00000529710.1_Missense_Mutation_p.K653E|PPP6R3_ENST00000524904.1_Missense_Mutation_p.K727E|PPP6R3_ENST00000534534.1_Missense_Mutation_p.K501E	p.K733E			Q5H9R7	PP6R3_HUMAN			21	2464	+			733					Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	ENST00000393800.2	37	c.2197A>G	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	A	7.980	0.751073	0.15778	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000534534;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000534190	T;T;T;T;T;T;T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52	4.91	4.91	0.64330	.	0.045988	0.85682	D	0.000000	T	0.41558	0.1164	N	0.19112	0.55	0.47862	D	0.999539	P;B;B;B;B;B;P;B	0.39920	0.653;0.247;0.001;0.001;0.001;0.001;0.695;0.001	B;B;B;B;B;B;P;B	0.46275	0.233;0.125;0.007;0.007;0.006;0.003;0.51;0.01	T	0.28996	-1.0026	10	0.02654	T	1	.	14.7382	0.69434	1.0:0.0:0.0:0.0	.	416;501;653;704;727;733;733;653	B4DYU6;E9PQP7;Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;.;.;PP6R3_HUMAN;.;.	E	733;733;501;704;687;727;733;653;653;698;440	ENSP00000377388:K733E;ENSP00000377389:K733E;ENSP00000434429:K501E;ENSP00000431415:K704E;ENSP00000265637:K687E;ENSP00000433058:K727E;ENSP00000377390:K733E;ENSP00000265636:K653E;ENSP00000437329:K653E;ENSP00000433565:K698E;ENSP00000436209:K440E	ENSP00000265636:K653E	K	+	1	0	PPP6R3	68125911	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	8.157000	0.89647	2.069000	0.61940	0.482000	0.46254	AAA		0.443	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		73	110	0	0	0	1	0	73	110					G	68369335	A	G	68369335	3	3	181	1	0	0	0	0	1	0	0	0	13838	15	1	3	2271	3	SAPS3	11	68369335	Missense_Mutation	SNP	A	TCGA-E8-A418-01A-11D-A23M-08	33431074	68369335	66637181	19	3820											
CPT1A	1374	broad.mit.edu	37	chr11	68582878	68582878	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagagcttcatggctcagcCgcaggtcaatcccgtccgga	11	13	3	1	rs141658962		TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr11:68582878C>T	ENST00000265641.5	-	2	219	c.65G>A	c.(64-66)cGg>cAg	p.R22Q	CPT1A_ENST00000539743.1_Missense_Mutation_p.R22Q|CPT1A_ENST00000376618.2_Missense_Mutation_p.R22Q|CPT1A_ENST00000540367.1_Missense_Mutation_p.R22Q	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	22					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	ATGGCTCAGCCGCAGGTCAAT	0.458																																						ENST00000265641.5																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(64-66)cGg>cAg		carnitine palmitoyltransferase 1A (liver)	L-Carnitine(DB00583)|Perhexiline(DB01074)	C	GLN/ARG,GLN/ARG	2,4398	4.2+/-10.8	0,2,2198	79	72	75		65,65	-1.1	0.2	11	dbSNP_134	75	0,8588		0,0,4294	no	missense,missense	CPT1A	NM_001031847.2,NM_001876.3	43,43	0,2,6492	TT,TC,CC		0.0,0.0455,0.0154	benign,benign	22/757,22/774	68582878	2,12986	2200	4294	6494	SO:0001583	missense	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68582878C>T	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.65G>A	11.37:g.68582878C>T	ENSP00000265641:p.Arg22Gln					CPT1A_ENST00000376618.2_Missense_Mutation_p.R22Q|CPT1A_ENST00000540367.1_Missense_Mutation_p.R22Q|CPT1A_ENST00000539743.1_Missense_Mutation_p.R22Q	p.R22Q	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		2	219	-	Esophageal squamous(3;3.28e-14)		22					Q8TCU0|Q9BWK0	Missense_Mutation	SNP	ENST00000265641.5	37	c.65G>A	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	C	2.673	-0.277040	0.05679	4.55E-4	0.0	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.84146	-1.81;-1.81;-1.77;-1.77	4.6	-1.12	0.09808	.	0.750134	0.13092	N	0.414478	T	0.67002	0.2847	N	0.05467	-0.045	0.29698	N	0.840374	B;B;B	0.16166	0.004;0.015;0.016	B;B;B	0.14023	0.001;0.003;0.01	T	0.52351	-0.8587	10	0.17832	T	0.49	.	10.7631	0.46277	0.0:0.8872:0.0:0.1128	.	22;22;22	B2RAQ8;P50416;P50416-2	.;CPT1A_HUMAN;.	Q	22	ENSP00000439084:R22Q;ENSP00000365803:R22Q;ENSP00000265641:R22Q;ENSP00000446108:R22Q	ENSP00000265641:R22Q	R	-	2	0	CPT1A	68339454	0.428000	0.25522	0.185000	0.23176	0.508000	0.34012	0.962000	0.29280	-0.587000	0.05890	-0.339000	0.08088	CGG		0.458	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		16	80	0	0	0	1	0	16	80					T	68582878	C	T	68582878	3	4	181	1	0	0	0	0	1	0	0	0	3831	652	23	1	2368	1	CPT1A	11	68582878	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08	213543	68582878	66423638	20	3821											
KIAA1826	84437	broad.mit.edu	37	chr11	105880518	105880518	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctgtaacctcaacttttctCtttcaatctgcagccgctcc	4	15	5	0			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr11:105880518C>T	ENST00000301919.4	-	3	2197	c.782G>A	c.(781-783)aGa>aAa	p.R261K	MSANTD4_ENST00000529805.1_5'Flank	NM_032424.1	NP_115800.1	Q8NCY6	MSD4_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils	261						nucleus (GO:0005634)											CAACTTTTCTCTTTCAATCTG	0.443																																						ENST00000301919.4																			0											c.(781-783)aGa>aAa		Myb/SANT-like DNA-binding domain containing 4 with coiled-coils							102	97	99					11																	105880518		2201	4299	6500	SO:0001583	missense	84437					nucleus		g.chr11:105880518C>T	AB058729	CCDS31663.1	11q22	2012-03-13	2012-03-13	2012-03-13	ENSG00000170903	ENSG00000170903			29383	protein-coding gene	gene with protein product			"KIAA1826"	KIAA1826			Standard	XM_005271697		Approved		uc001piz.3	Q8NCY6	OTTHUMG00000166240	ENST00000301919.4:c.782G>A	11.37:g.105880518C>T	ENSP00000304713:p.Arg261Lys						p.R261K	NM_032424.1	NP_115800.1	Q8NCY6	K1826_HUMAN			3	2197	-			261					Q96JK1|Q96JZ3|Q9H2N4	Missense_Mutation	SNP	ENST00000301919.4	37	c.782G>A	CCDS31663.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075580	0.36662	.	.	ENSG00000170903	ENST00000301919	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.49236	0.1545	L	0.29908	0.895	0.43608	D	0.995977	B	0.31054	0.306	B	0.31547	0.132	T	0.39187	-0.9626	9	0.26408	T	0.33	-22.493	19.684	0.95974	0.0:1.0:0.0:0.0	.	261	Q8NCY6	K1826_HUMAN	K	261	.	ENSP00000304713:R261K	R	-	2	0	KIAA1826	105385728	0.733000	0.28132	0.126000	0.21872	0.392000	0.30506	6.838000	0.75359	2.654000	0.90174	0.491000	0.48974	AGA		0.443	MSANTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388619.1	NM_032424		69	107	0	0	0	1	0	69	107					T	105880518	C	T	105880518	3	4	181	1	0	0	0	0	1	0	0	0	8260	913	32	2	259	2	KIAA1826	11	105880518	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08	37297640	105880518	29125998	21	3822											
MLL	4297	broad.mit.edu	37	chr11	118377159	118377159	+	Missense_Mutation	SNP	T	T	G													gccccacctctcctgggggtTctccatcctctccatcttct							TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr11:118377159T>G	ENST00000389506.5	+	27	10543	c.10543T>G	c.(10543-10545)Tct>Gct	p.S3515A	KMT2A_ENST00000534358.1_Missense_Mutation_p.S3518A|KMT2A_ENST00000354520.4_Missense_Mutation_p.S3477A			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3515					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TCCTGGGGGTTCTCCATCCTC	0.547																																						ENST00000534358.1																			0											c.(10552-10554)Tct>Gct		lysine (K)-specific methyltransferase 2A							71	71	71					11																	118377159		2200	4295	6495	SO:0001583	missense	4297							g.chr11:118377159T>G	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.10543T>G	11.37:g.118377159T>G	ENSP00000374157:p.Ser3515Ala					KMT2A_ENST00000389506.5_Missense_Mutation_p.S3515A|KMT2A_ENST00000354520.4_Missense_Mutation_p.S3477A	p.S3518A	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					27	10575	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.10552T>G	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	T	1.246	-0.619924	0.03636	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.81739	-1.53;-1.53;-1.5	0.235	0.235	0.15431	.	0.474839	0.15013	U	0.285468	T	0.65678	0.2714	L	0.36672	1.1	0.09310	N	0.999997	B;B	0.26041	0.14;0.14	B;B	0.28991	0.097;0.097	T	0.49133	-0.8971	9	0.08381	T	0.77	.	.	.	.	.	3518;3515	E9PQG7;Q03164	.;MLL1_HUMAN	A	3518;3515;3477;2425	ENSP00000436786:S3518A;ENSP00000374157:S3515A;ENSP00000346516:S3477A	ENSP00000346516:S3477A	S	+	1	0	MLL	117882369	0.947000	0.32204	0.996000	0.52242	0.742000	0.42306	0.310000	0.19356	0.263000	0.21812	0.260000	0.18958	TCT		0.547	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		58	79	0	0	0	1	0	58	79					G	118377159	T	G	118377159	3	3	181	1	0	0	0	0	1	0	0	0	9620	1783	62	5	10649	5	MLL	11	118377159	Missense_Mutation	SNP	T	TCGA-E8-A418-01A-11D-A23M-08	12496641	118377159	16629357	22	3823	19	2									
MLL	4297	broad.mit.edu	37	chr11	118377160	118377160	+	Missense_Mutation	SNP	C	C	T													ccccacctctcctgggggttCtccatcctctccatcttctg							TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr11:118377160C>T	ENST00000389506.5	+	27	10544	c.10544C>T	c.(10543-10545)tCt>tTt	p.S3515F	KMT2A_ENST00000534358.1_Missense_Mutation_p.S3518F|KMT2A_ENST00000354520.4_Missense_Mutation_p.S3477F			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3515					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CCTGGGGGTTCTCCATCCTCT	0.547																																						ENST00000534358.1																			0											c.(10552-10554)tCt>tTt		lysine (K)-specific methyltransferase 2A							71	71	71					11																	118377160		2200	4295	6495	SO:0001583	missense	4297							g.chr11:118377160C>T	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.10544C>T	11.37:g.118377160C>T	ENSP00000374157:p.Ser3515Phe					KMT2A_ENST00000389506.5_Missense_Mutation_p.S3515F|KMT2A_ENST00000354520.4_Missense_Mutation_p.S3477F	p.S3518F	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					27	10576	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.10553C>T	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	0.579	-0.837958	0.02692	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.82433	-1.61;-1.61;-1.58	0.235	0.235	0.15431	.	0.474839	0.15013	U	0.285468	T	0.76314	0.3970	L	0.36672	1.1	0.21105	N	0.999783	P;P	0.39520	0.676;0.676	P;P	0.45558	0.485;0.485	T	0.65245	-0.6215	9	0.39692	T	0.17	.	.	.	.	.	3518;3515	E9PQG7;Q03164	.;MLL1_HUMAN	F	3518;3515;3477;2425	ENSP00000436786:S3518F;ENSP00000374157:S3515F;ENSP00000346516:S3477F	ENSP00000346516:S3477F	S	+	2	0	MLL	117882370	0.914000	0.31030	0.995000	0.50966	0.748000	0.42578	0.305000	0.19254	0.308000	0.22923	0.313000	0.20887	TCT		0.547	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		59	78	0	0	0	1	0	59	78					T	118377160	C	T	118377160	3	4	181	1	0	0	0	0	1	0	0	0	9620	913	32	2	10650	2	MLL	11	118377160	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08	1	118377160	16629356	23	3824	19	2									
PTPRR	5801	broad.mit.edu	37	chr12	71056321	71056321	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttatcacattcatttacaCtgataaccagaacctcaact	3	11	3	2			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr12:71056321C>T	ENST00000283228.2	-	11	2014	c.1562G>A	c.(1561-1563)aGt>aAt	p.S521N	PTPRR_ENST00000440835.2_Missense_Mutation_p.S276N|PTPRR_ENST00000342084.4_Missense_Mutation_p.S409N|PTPRR_ENST00000378778.1_Missense_Mutation_p.S315N|PTPRR_ENST00000537619.2_5'UTR|PTPRR_ENST00000549308.1_Missense_Mutation_p.S276N	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	521	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TTCATTTACACTGATAACCAG	0.363																																						ENST00000283228.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41						c.(1561-1563)aGt>aAt		protein tyrosine phosphatase, receptor type, R							132	115	121					12																	71056321		2203	4299	6502	SO:0001583	missense	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71056321C>T	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1562G>A	12.37:g.71056321C>T	ENSP00000283228:p.Ser521Asn					PTPRR_ENST00000537619.2_5'UTR|PTPRR_ENST00000440835.2_Missense_Mutation_p.S276N|PTPRR_ENST00000342084.4_Missense_Mutation_p.S409N|PTPRR_ENST00000378778.1_Missense_Mutation_p.S315N|PTPRR_ENST00000549308.1_Missense_Mutation_p.S276N	p.S521N	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	11	2014	-			521			Tyrosine-protein phosphatase.		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.1562G>A	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.073528	0.36566	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	5.67	-0.584	0.11702	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.458783	0.20224	N	0.096629	T	0.23133	0.0559	L	0.43554	1.36	0.28648	N	0.906821	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.0	T	0.24905	-1.0147	10	0.19147	T	0.46	-2.3077	13.4684	0.61268	0.0:0.8486:0.0:0.1514	.	370;409;315;521	B7Z998;F5GXR7;Q15256-4;Q15256	.;.;.;PTPRR_HUMAN	N	276;521;315;409;276	ENSP00000391750:S276N;ENSP00000283228:S521N;ENSP00000368054:S315N;ENSP00000339605:S409N;ENSP00000446943:S276N	ENSP00000283228:S521N	S	-	2	0	PTPRR	69342588	0.396000	0.25262	0.962000	0.40283	0.991000	0.79684	0.116000	0.15561	-0.311000	0.08754	0.655000	0.94253	AGT		0.363	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		23	39	0	0	0	1	0	23	39					T	71056321	C	T	71056321	3	4	181	1	0	0	0	0	1	0	0	0	12810	565	20	2	427	2	PTPRR	12	71056321	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08		71056321	62795574	24	3825											
GAS2L3	283431	broad.mit.edu	37	chr12	101017896	101017896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accgagaaaatgtatttcatCccccaatacccccaaggcca	5	15	1	1			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr12:101017896C>T	ENST00000539410.1	+	9	1699	c.1313C>T	c.(1312-1314)tCc>tTc	p.S438F	GAS2L3_ENST00000547754.1_Missense_Mutation_p.S438F|GAS2L3_ENST00000266754.5_Missense_Mutation_p.S438F|GAS2L3_ENST00000537247.1_Missense_Mutation_p.S334F			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	438					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						TGTATTTCATCCCCCAATACC	0.433																																						ENST00000537247.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1000-1002)tCc>tTc		growth arrest-specific 2 like 3							91	93	93					12																	101017896		2203	4300	6503	SO:0001583	missense	283431				cell cycle arrest			g.chr12:101017896C>T	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.1313C>T	12.37:g.101017896C>T	ENSP00000439672:p.Ser438Phe					GAS2L3_ENST00000547754.1_Missense_Mutation_p.S438F|GAS2L3_ENST00000266754.5_Missense_Mutation_p.S438F|GAS2L3_ENST00000539410.1_Missense_Mutation_p.S438F	p.S334F			Q86XJ1	GA2L3_HUMAN			10	1955	+			438					B2RCN2	Missense_Mutation	SNP	ENST00000539410.1	37	c.1001C>T	CCDS9079.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.618162	0.46736	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.26223	1.77;1.77;1.75;1.77	5.84	4.73	0.59995	.	0.273190	0.30177	N	0.010225	T	0.22282	0.0537	L	0.39633	1.23	0.20403	N	0.999905	B	0.20887	0.049	B	0.19666	0.026	T	0.13308	-1.0514	10	0.37606	T	0.19	-6.4392	12.2631	0.54661	0.0:0.8971:0.0:0.1029	.	438	Q86XJ1	GA2L3_HUMAN	F	438;438;334;438	ENSP00000266754:S438F;ENSP00000448955:S438F;ENSP00000442406:S334F;ENSP00000439672:S438F	ENSP00000266754:S438F	S	+	2	0	GAS2L3	99542027	0.111000	0.22076	0.025000	0.17156	0.450000	0.32258	2.701000	0.47094	1.128000	0.42052	0.650000	0.86243	TCC		0.433	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942		9	207	0	0	0	1	0	9	207					T	101017896	C	T	101017896	3	4	181	1	0	0	0	0	1	0	0	0	6248	855	30	2	1343	2	GAS2L3	12	101017896	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08	29961575	101017896	32833999	25	3826											
AKT1	207	broad.mit.edu	37	chr14	105246551	105246551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgccaggtcttgatgtactCccctacagacgtgcgggtgg	13	13	1	2	rs34409589|rs121434592		TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr14:105246551C>T	ENST00000554581.1	-	2	1529	c.49G>A	c.(49-51)Gag>Aag	p.E17K	AKT1_ENST00000349310.3_Missense_Mutation_p.E17K|AKT1_ENST00000544168.1_5'Flank|AKT1_ENST00000402615.2_Missense_Mutation_p.E17K|AKT1_ENST00000554848.1_Missense_Mutation_p.E17K|AKT1_ENST00000407796.2_Missense_Mutation_p.E17K|AKT1_ENST00000555528.1_Missense_Mutation_p.E17K			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	17	Inositol-(1,3,4,5)-tetrakisphosphate binding.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.		E -> K (in PROTEUSS and breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; results in increased phosphorylation at T-308 and higher basal ubiquitination; the mutant protein is more efficiently recruited to the plasma membrane; alters phosphatidylinositiol phosphates lipid specificity of the AKT1 PH domain; dbSNP:rs121434592). {ECO:0000269|PubMed:17611497, ECO:0000269|PubMed:21793738}.		activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.E17K(102)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TTGATGTACTCCCCTACAGAC	0.612	E17K(KU1919_URINARY_TRACT)	1	Mis		"breast, colorectal, ovarian, NSCLC"																																	ENST00000554581.1	E17K(KU1919_URINARY_TRACT)	1		Dom	yes		14	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1			E			"breast, colorectal, ovarian, NSCLC"		102	Substitution - Missense(102)	p.E17K(102)	breast(49)|urinary_tract(14)|thyroid(10)|endometrium(10)|lung(7)|large_intestine(4)|prostate(4)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1)	NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176						c.(49-51)Gag>Aag		v-akt murine thymoma viral oncogene homolog 1	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)						130	93	106					14																	105246551		2203	4300	6503	SO:0001583	missense	207				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	g.chr14:105246551C>T	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"Pleckstrin homology (PH) domain containing"	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.49G>A	14.37:g.105246551C>T	ENSP00000451828:p.Glu17Lys					AKT1_ENST00000349310.3_Missense_Mutation_p.E17K|AKT1_ENST00000407796.2_Missense_Mutation_p.E17K|AKT1_ENST00000402615.2_Missense_Mutation_p.E17K|AKT1_ENST00000555528.1_Missense_Mutation_p.E17K|AKT1_ENST00000554848.1_Missense_Mutation_p.E17K	p.E17K			P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	2	1529	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	17		E -> K (in breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; alters the PH domain conformation; results in activation of the protein; alters the subcellular location of the protein to the plasma membrane).	PH.		B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	ENST00000554581.1	37	c.49G>A	CCDS9994.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458989	0.84317	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000554848;ENST00000555926	T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17	4.61	4.61	0.57282	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.59838	0.2223	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64411	-0.6414	10	0.72032	D	0.01	.	16.1757	0.81847	0.0:1.0:0.0:0.0	.	17	P31749	AKT1_HUMAN	K	17	ENSP00000451828:E17K;ENSP00000384293:E17K;ENSP00000270202:E17K;ENSP00000385326:E17K;ENSP00000450688:E17K;ENSP00000451166:E17K;ENSP00000451824:E17K	ENSP00000270202:E17K	E	-	1	0	AKT1	104317596	1.000000	0.71417	0.639000	0.29394	0.296000	0.27459	7.347000	0.79356	2.395000	0.81488	0.462000	0.41574	GAG		0.612	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163		17	33	0	0	0	1	0	17	33					T	105246551	C	T	105246551	3	4	181	1	0	0	0	0	1	0	0	0	478	864	30	2	1441	2	AKT1	14	105246551	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08		105246551	2102989	26	3827											
C15orf55	256646	broad.mit.edu	37	chr15	34649404	34649404	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcaccaagggagcatcccctCagtcctcaccatgcctcagg	8	17	4	0			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr15:34649404C>T	ENST00000333756.4	+	7	3266	c.3111C>T	c.(3109-3111)ctC>ctT	p.L1037L	NUTM1_ENST00000438749.3_Silent_p.L1055L|NUTM1_ENST00000537011.1_Silent_p.L1065L	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	1037						cytoplasm (GO:0005737)|nucleus (GO:0005634)											AGCATCCCCTCAGTCCTCACC	0.532																																						ENST00000537011.1																			0											c.(3193-3195)ctC>ctT		NUT midline carcinoma, family member 1							81	68	72					15																	34649404		2201	4298	6499	SO:0001819	synonymous_variant	256646							g.chr15:34649404C>T	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"nuclear protein in testis"	608963	"chromosome 15 open reading frame 55"	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.3111C>T	15.37:g.34649404C>T						NUTM1_ENST00000333756.4_Silent_p.L1037L|NUTM1_ENST00000438749.3_Silent_p.L1055L	p.L1065L							8	3577	+								B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Silent	SNP	ENST00000333756.4	37	c.3195C>T	CCDS32190.1																																																																																				0.532	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		48	64	0	0	0	1	0	48	64					T	34649404	C	T	34649404	2	4	181	1	0	0	0	0	0	0	0	1	1803	813	29	2		2	C15orf55	15	34649404	Silent	SNP	C	TCGA-E8-A418-01A-11D-A23M-08		34649404	67881988	27	3828											
CHD2	1106	broad.mit.edu	37	chr15	93567883	93567883	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taggtctcctttggagagatCactagaacagaaaaacaacc	8	9	2	3			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr15:93567883C>T	ENST00000394196.4	+	39	6503	c.5435C>T	c.(5434-5436)tCa>tTa	p.S1812L		NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1812					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TTGGAGAGATCACTAGAACAG	0.463																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(5434-5436)tCa>tTa		chromodomain helicase DNA binding protein 2							75	72	73					15																	93567883		1862	4107	5969	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93567883C>T	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.5435C>T	15.37:g.93567883C>T	ENSP00000377747:p.Ser1812Leu						p.S1812L	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		39	6503	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1812					C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.5435C>T	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318462	0.81469	.	.	ENSG00000173575	ENST00000394196	D	0.92099	-2.97	5.69	5.69	0.88448	.	.	.	.	.	D	0.85779	0.5776	N	0.24115	0.695	0.80722	D	1	P	0.38922	0.651	B	0.24974	0.057	D	0.86812	0.1999	9	0.66056	D	0.02	-6.177	20.181	0.98201	0.0:1.0:0.0:0.0	.	1812	O14647	CHD2_HUMAN	L	1812	ENSP00000377747:S1812L	ENSP00000377747:S1812L	S	+	2	0	CHD2	91368887	1.000000	0.71417	0.984000	0.44739	0.944000	0.59088	7.017000	0.76399	2.840000	0.97914	0.655000	0.94253	TCA		0.463	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		6	105	0	0	0	1	0	6	105					T	93567883	C	T	93567883	3	4	181	1	0	0	0	0	1	0	0	0	3325	838	29	2	5589	2	CHD2	15	93567883	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08	58918479	93567883	8963509	28	3829											
RBBP6	5930	broad.mit.edu	37	chr16	24583713	24583718	+	In_Frame_Del	DEL	AAAGAG	AAAGAG	-													agtcaaagaagaacaaagatAaagagaaggagaaggagaaa					rs148143334|rs199567078	byFrequency	TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr16:24583713_24583718delAAAGAG	ENST00000319715.4	+	18	5758_5763	c.5326_5331delAAAGAG	c.(5326-5331)aaagagdel	p.KE1780del	RBBP6_ENST00000348022.2_In_Frame_Del_p.KE1746del|RBBP6_ENST00000381039.3_In_Frame_Del_p.KE940del	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1780					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		gaacaaagataaagagaaggagaagg	0.311														121	0.0241613	0.0045	0.0375	5008	,	,		24421	0		0.0726	False		,,,				2504	0.0164					ENST00000319715.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(5326-5331)del		retinoblastoma binding protein 6			,	75,3587		6,63,1762					,	0.7	1.0		dbSNP_134	25	547,6527		74,399,3064	no	coding,coding	RBBP6	NM_018703.3,NM_006910.4	,	80,462,4826	A1A1,A1R,RR		7.7325,2.0481,5.7936	,	,		622,10114				SO:0001651	inframe_deletion	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24583713_24583718delAAAGAG		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.5326_5331delAAAGAG	16.37:g.24583713_24583718delAAAGAG	ENSP00000317872:p.Lys1780_Glu1781del					RBBP6_ENST00000381039.3_In_Frame_Del_p.KE940del|RBBP6_ENST00000348022.2_In_Frame_Del_p.KE1746del	p.KE1780del	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	18	5758_5763	+			1780					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	In_Frame_Del	DEL	ENST00000319715.4	37	c.5326_5331delAAAGAG	CCDS10621.1																																																																																				0.311	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		5	4						5	4	---	---	---	---	-	24583718	AAAGAG	-	24583713	7	5	181	1	0	1	0	1	0	0	0	0	13103	363	13	0	5450	0	RBBP6	16	24583713	In_Frame_Del	DEL	AAAGAG	TCGA-E8-A418-01A-11D-A23M-08		24583713	65771040	29	3830											
PRR14	78994	broad.mit.edu	37	chr16	30666042	30666042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcttggccccgctcttcCgttccgtccgctccaagctg	12	17	1	0	rs147047966		TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr16:30666042C>T	ENST00000542965.2	+	7	1207	c.751C>T	c.(751-753)Cgt>Tgt	p.R251C	PRR14_ENST00000300835.4_Missense_Mutation_p.R251C			Q9BWN1	PRR14_HUMAN	proline rich 14	251	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CCCGCTCTTCCGTTCCGTCCG	0.642																																						ENST00000542965.2																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18						c.(751-753)Cgt>Tgt		proline rich 14		C	CYS/ARG	0,4394		0,0,2197	48	42	44		751	5.8	1.0	16	dbSNP_134	44	3,8597	2.2+/-6.3	0,3,4297	yes	missense	PRR14	NM_024031.2	180	0,3,6494	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	251/586	30666042	3,12991	2197	4300	6497	SO:0001583	missense	78994							g.chr16:30666042C>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.751C>T	16.37:g.30666042C>T	ENSP00000441641:p.Arg251Cys					PRR14_ENST00000300835.4_Missense_Mutation_p.R251C	p.R251C			Q9BWN1	PRR14_HUMAN	Colorectal(24;0.103)		7	1207	+			251			Pro-rich.		Q8WTX2	Missense_Mutation	SNP	ENST00000542965.2	37	c.751C>T	CCDS10687.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455553	0.84209	0.0	3.49E-4	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	T;T	0.55588	0.51;0.51	5.75	5.75	0.90469	.	0.208555	0.34411	N	0.003988	T	0.64549	0.2608	L	0.53249	1.67	0.52501	D	0.999953	D	0.76494	0.999	P	0.57283	0.817	T	0.65524	-0.6147	10	0.62326	D	0.03	-3.4038	16.8596	0.86014	0.0:1.0:0.0:0.0	.	251	Q9BWN1	PRR14_HUMAN	C	224;251;251	ENSP00000300835:R251C;ENSP00000441641:R251C	ENSP00000287463:R224C	R	+	1	0	PRR14	30573543	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.348000	0.59379	2.716000	0.92895	0.643000	0.83706	CGT		0.642	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	NM_024031		5	115	0	0	0	1	0	5	115					T	30666042	C	T	30666042	3	4	181	1	0	0	0	0	1	0	0	0	12586	652	23	1	777	1	PRR14	16	30666042	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08	6082329	30666042	59688711	30	3831											
DNAJA2	10294	broad.mit.edu	37	chr16	46998681	46998681	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttaatcaccttcttcccttCacattttttacagcggtctt	3	12	4	0			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr16:46998681C>T	ENST00000317089.5	-	6	831	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	206					positive regulation of cell proliferation (GO:0008284)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				TTCTTCCCTTCACATTTTTTA	0.383																																						ENST00000317089.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(616-618)Gaa>Aaa		DnaJ (Hsp40) homolog, subfamily A, member 2							172	158	163					16																	46998681		2203	4300	6503	SO:0001583	missense	10294				positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding	g.chr16:46998681C>T	AF116720	CCDS10726.1	16q12.1	2011-09-02			ENSG00000069345	ENSG00000069345		"Heat shock proteins / DNAJ (HSP40)"	14884	protein-coding gene	gene with protein product		611322				9710638, 11147971	Standard	NM_005880		Approved	HIRIP4, DNAJ, CPR3, DNJ3	uc002eeo.2	O60884	OTTHUMG00000133104	ENST00000317089.5:c.616G>A	16.37:g.46998681C>T	ENSP00000314030:p.Glu206Lys						p.E206K	NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN			6	831	-		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)	206					B2R7L7|O14711	Missense_Mutation	SNP	ENST00000317089.5	37	c.616G>A	CCDS10726.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823601	0.50739	.	.	ENSG00000069345	ENST00000317089	T	0.35789	1.29	6.17	6.17	0.99709	HSP40/DnaJ peptide-binding (1);Heat shock protein DnaJ, cysteine-rich domain (4);	0.045861	0.85682	D	0.000000	T	0.15392	0.0371	N	0.01250	-0.93	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.31696	-0.9934	10	0.02654	T	1	-21.4236	20.8794	0.99867	0.0:1.0:0.0:0.0	.	206	O60884	DNJA2_HUMAN	K	206	ENSP00000314030:E206K	ENSP00000314030:E206K	E	-	1	0	DNAJA2	45556182	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.526000	0.81920	2.941000	0.99782	0.655000	0.94253	GAA		0.383	DNAJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256769.2			48	78	0	0	0	1	0	48	78					T	46998681	C	T	46998681	3	4	181	1	0	0	0	0	1	0	0	0	4612	835	29	2	638	2	DNAJA2	16	46998681	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08	16332639	46998681	43356072	31	3832											
PPM1D	8493	broad.mit.edu	37	chr17	58740540	58740544	+	Frame_Shift_Del	DEL	TGACT	TGACT	-													agaaaattgcgctaaagcccTgactttaaggatacatgatt							TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr17:58740540_58740544delTGACT	ENST00000305921.3	+	6	1677_1681	c.1445_1449delTGACT	c.(1444-1449)ctgactfs	p.LT482fs	RNU6-623P_ENST00000363143.1_RNA	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	482					G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			GCTAAAGCCCTGACTTTAAGGATAC	0.385											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000305921.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15						c.(1444-1449)cfs		protein phosphatase, Mg2+/Mn2+ dependent, 1D																																				SO:0001589	frameshift_variant	8493				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr17:58740540_58740544delTGACT	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9277	protein-coding gene	gene with protein product	"wild-type p53-induced phosphatase 1", "protein phosphatase 2C, delta isoform"	605100	"protein phosphatase 1D magnesium-dependent, delta isoform"			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.1445_1449delTGACT	17.37:g.58740540_58740544delTGACT	ENSP00000306682:p.Leu482fs		OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1033		p.LT482fs	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		6	1677_1681	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		482					Q53XP4|Q6P991|Q8IVR6	Frame_Shift_Del	DEL	ENST00000305921.3	37	c.1445_1449delTGACT	CCDS11625.1																																																																																				0.385	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620		37	69						37	69	---	---	---	---	-	58740544	TGACT	-	58740540	7	5	181	1	0	1	0	1	0	0	0	0	12337	1580	55	0	1467	0	PPM1D	17	58740540	Frame_Shift_Del	DEL	TGACT	TCGA-E8-A418-01A-11D-A23M-08		58740540	22454670	32	3833											
RTTN	25914	broad.mit.edu	37	chr18	67673627	67673627	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaactgaccttctgataaTtgtaaatcagagcccaaagg	7	8	2	3			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr18:67673627T>C	ENST00000255674.6	-	47	6801	c.6515A>G	c.(6514-6516)aAt>aGt	p.N2172S	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	2172					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)				CTTCTGATAATTGTAAATCAG	0.398																																						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.(6514-6516)aAt>aGt		rotatin							72	67	69					18																	67673627		1813	4081	5894	SO:0001583	missense	25914						binding	g.chr18:67673627T>C	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.6515A>G	18.37:g.67673627T>C	ENSP00000255674:p.Asn2172Ser					RTTN_ENST00000454359.1_3'UTR	p.N2172S	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN			47	6801	-		Esophageal squamous(42;0.129)	2172					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.6515A>G	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	T	18.44	3.624700	0.66901	.	.	ENSG00000176225	ENST00000255674	T	0.49139	0.79	5.1	5.1	0.69264	Armadillo-like helical (1);Armadillo-type fold (1);	0.131349	0.48767	D	0.000180	T	0.59074	0.2167	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.61676	-0.7014	10	0.72032	D	0.01	.	9.4125	0.38500	0.0:0.0812:0.0:0.9188	.	2172	Q86VV8	RTTN_HUMAN	S	2172	ENSP00000255674:N2172S	ENSP00000255674:N2172S	N	-	2	0	RTTN	65824607	1.000000	0.71417	0.996000	0.52242	0.965000	0.64279	3.167000	0.50793	2.053000	0.61076	0.477000	0.44152	AAT		0.398	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		48	48	0	0	0	1	0	48	48					C	67673627	T	C	67673627	3	2	181	1	0	0	0	0	1	0	0	0	13737	1493	52	3	177	3	RTTN	18	67673627	Missense_Mutation	SNP	T	TCGA-E8-A418-01A-11D-A23M-08		67673627	10403621	33	3834											
DNMT1	1786	broad.mit.edu	37	chr19	10262175	10262175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catctctgggatgttatcatCgacttcctcatcgtcatctg	7	12	5	0			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr19:10262175C>T	ENST00000340748.4	-	23	2351	c.2116G>A	c.(2116-2118)Gat>Aat	p.D706N	DNMT1_ENST00000359526.4_Missense_Mutation_p.D722N|DNMT1_ENST00000540357.1_Missense_Mutation_p.D706N			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	706	Autoinhibitory linker.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	ATGTTATCATCGACTTCCTCA	0.488																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(2116-2118)Gat>Aat		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						249	208	222					19																	10262175		2203	4300	6503	SO:0001583	missense	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10262175C>T	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.2116G>A	19.37:g.10262175C>T	ENSP00000345739:p.Asp706Asn					DNMT1_ENST00000359526.4_Missense_Mutation_p.D722N|DNMT1_ENST00000540357.1_Missense_Mutation_p.D706N	p.D706N			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		23	2351	-			706					A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	c.2116G>A	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228213	0.79576	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.27402	1.81;1.67;1.67	5.75	5.75	0.90469	.	0.151185	0.64402	D	0.000018	T	0.39410	0.1077	L	0.59436	1.845	0.80722	D	1	P;P;P	0.48230	0.907;0.703;0.85	P;B;B	0.46299	0.511;0.202;0.313	T	0.05632	-1.0873	10	0.31617	T	0.26	.	18.7107	0.91655	0.0:1.0:0.0:0.0	.	706;722;706	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	N	722;706;706;574	ENSP00000352516:D722N;ENSP00000440457:D706N;ENSP00000345739:D706N	ENSP00000345739:D706N	D	-	1	0	DNMT1	10123175	1.000000	0.71417	0.386000	0.26170	0.987000	0.75469	7.568000	0.82369	2.713000	0.92767	0.655000	0.94253	GAT		0.488	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		27	248	0	0	0	1	0	27	248					T	10262175	C	T	10262175	3	4	181	1	0	0	0	0	1	0	0	0	4675	884	31	1	2806	1	DNMT1	19	10262175	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08		10262175	48866808	34	3835											
RYR1	6261	broad.mit.edu	37	chr19	38976630	38976630	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcccccgcatcatttctcgCccccctgtttcgtggccgct	9	19	2	0	rs377041724		TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr19:38976630C>G	ENST00000359596.3	+	34	5335	c.5335C>G	c.(5335-5337)Ccc>Gcc	p.P1779A	RYR1_ENST00000360985.3_Missense_Mutation_p.P1779A|RYR1_ENST00000355481.4_Missense_Mutation_p.P1779A			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1779	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TCATTTCTCGCCCCCCTGTTT	0.682																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(5335-5337)Ccc>Gcc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						33	33	33					19																	38976630		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38976630C>G	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5335C>G	19.37:g.38976630C>G	ENSP00000352608:p.Pro1779Ala					RYR1_ENST00000359596.3_Missense_Mutation_p.P1779A|RYR1_ENST00000360985.3_Missense_Mutation_p.P1779A	p.P1779A	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		34	5466	+	all_cancers(60;7.91e-06)		1779			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.5335C>G	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	2.057	-0.416317	0.04766	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.72051	-0.62;-0.62;-0.62	3.62	-1.2	0.09554	.	0.274240	0.28772	U	0.014186	T	0.53578	0.1805	L	0.54323	1.7	0.09310	N	1	P;B	0.37548	0.599;0.157	B;B	0.36030	0.216;0.053	T	0.50432	-0.8829	10	0.12103	T	0.63	.	4.3825	0.11300	0.1037:0.4142:0.329:0.153	.	1779;1779	P21817-2;P21817	.;RYR1_HUMAN	A	1779	ENSP00000352608:P1779A;ENSP00000347667:P1779A;ENSP00000354254:P1779A	ENSP00000347667:P1779A	P	+	1	0	RYR1	43668470	0.000000	0.05858	0.003000	0.11579	0.107000	0.19398	-0.616000	0.05591	-0.717000	0.04955	-2.574000	0.00170	CCC		0.682	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			54	71	0	0	0	1	0	54	71					G	38976630	C	G	38976630	3	3	181	1	0	0	0	0	1	0	0	0	13768	739	26	4	5469	4	RYR1	19	38976630	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08	28714455	38976630	20152353	35	3836											
SPHK2	56848	broad.mit.edu	37	chr19	49132445	49132445	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggggactggggtggggcTggggatgctccgctgtcccc	20	11	0	0			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr19:49132445T>C	ENST00000245222.4	+	7	1746	c.1380T>C	c.(1378-1380)gcT>gcC	p.A460A	SPHK2_ENST00000599029.1_Silent_p.A424A|SPHK2_ENST00000340932.3_Silent_p.A422A|SPHK2_ENST00000600537.1_Silent_p.A401A|SPHK2_ENST00000599748.1_Silent_p.A424A|SPHK2_ENST00000443164.1_Silent_p.A522A|SPHK2_ENST00000598088.1_Silent_p.A460A	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	460					blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GGGGTGGGGCTGGGGATGCTC	0.687																																						ENST00000443164.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(1564-1566)gcT>gcC		sphingosine kinase 2							41	51	48					19																	49132445		2200	4299	6499	SO:0001819	synonymous_variant	56848				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity	g.chr19:49132445T>C	AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.1380T>C	19.37:g.49132445T>C						SPHK2_ENST00000599029.1_Silent_p.A424A|SPHK2_ENST00000598088.1_Silent_p.A460A|SPHK2_ENST00000600537.1_Silent_p.A401A|SPHK2_ENST00000599748.1_Silent_p.A424A|SPHK2_ENST00000340932.3_Silent_p.A422A|SPHK2_ENST00000245222.4_Silent_p.A460A	p.A522A			Q9NRA0	SPHK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	5	2271	+		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	460					A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Silent	SNP	ENST00000245222.4	37	c.1566T>C	CCDS12727.1																																																																																				0.687	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1			88	123	0	0	0	1	0	88	123					C	49132445	T	C	49132445	2	2	181	1	0	0	0	0	0	0	0	1	15046	1567	55	3		3	SPHK2	19	49132445	Silent	SNP	T	TCGA-E8-A418-01A-11D-A23M-08	10155815	49132445	9996538	36	3837											
TRPM4	54795	broad.mit.edu	37	chr19	49693561	49693561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctccactcatctacaccCgcctcatcaccttcaggtca	4	20	6	0	rs199552085		TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr19:49693561C>T	ENST00000252826.5	+	15	2242	c.2116C>T	c.(2116-2118)Cgc>Tgc	p.R706C	TRPM4_ENST00000355712.5_Missense_Mutation_p.R352C|TRPM4_ENST00000427978.2_Missense_Mutation_p.R706C	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	706					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CATCTACACCCGCCTCATCAC	0.597													c|||	1	0.000199681	8e-04	0	5008	,	,		17395	0		0	False		,,,				2504	0					ENST00000252826.5																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.(2116-2118)Cgc>Tgc		transient receptor potential cation channel, subfamily M, member 4							195	171	179					19																	49693561		2203	4300	6503	SO:0001583	missense	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49693561C>T	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"Voltage-gated ion channels / Transient receptor potential cation channels"	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.2116C>T	19.37:g.49693561C>T	ENSP00000252826:p.Arg706Cys					TRPM4_ENST00000355712.5_Missense_Mutation_p.R352C|TRPM4_ENST00000427978.2_Missense_Mutation_p.R706C	p.R706C	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	15	2242	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	706					A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	c.2116C>T	CCDS33073.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	13.77	2.336673	0.41398	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.71817	-0.6;-0.6;-0.6	4.99	-4.94	0.03057	.	0.946651	0.08919	N	0.874738	T	0.54013	0.1832	N	0.24115	0.695	0.26849	N	0.968209	D;D;D;D	0.55172	0.97;0.969;0.969;0.958	B;P;B;B	0.44732	0.27;0.459;0.34;0.431	T	0.55679	-0.8103	10	0.72032	D	0.01	-10.0993	7.8817	0.29627	0.3287:0.2364:0.4349:0.0	.	352;532;706;706	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	C	706;706;352	ENSP00000252826:R706C;ENSP00000407492:R706C;ENSP00000347944:R352C	ENSP00000252826:R706C	R	+	1	0	TRPM4	54385373	0.048000	0.20356	0.854000	0.33618	0.219000	0.24729	0.051000	0.14141	-0.914000	0.03827	-0.812000	0.03155	CGC		0.597	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		9	212	0	0	0	1	0	9	212					T	49693561	C	T	49693561	3	4	181	1	0	0	0	0	1	0	0	0	16585	652	23	1	2174	1	TRPM4	19	49693561	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08	561116	49693561	9435422	37	3838											
ZNF337	26152	broad.mit.edu	37	chr20	25656710	25656710	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcgctcacaatccttgcacAcaaaaggcttctcccctgag	6	15	2	1			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr20:25656710A>G	ENST00000376436.1	-	4	1753	c.1214T>C	c.(1213-1215)gTg>gCg	p.V405A	RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000481610.1_5'Flank|ZNF337_ENST00000538750.1_Missense_Mutation_p.V373A|RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.V405A|RP4-694B14.5_ENST00000421829.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	405					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(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATCCTTGCACACAAAAGGCTT	0.488																																						ENST00000376436.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1213-1215)gTg>gCg		zinc finger protein 337							119	104	109					20																	25656710		2203	4300	6503	SO:0001583	missense	26152							g.chr20:25656710A>G		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"Zinc fingers, C2H2-type", "-"	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.1214T>C	20.37:g.25656710A>G	ENSP00000365619:p.Val405Ala					ZNF337_ENST00000538750.1_Missense_Mutation_p.V373A|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.V405A	p.V405A							4	1753	-								B4DSM2|Q9Y3Y5	Missense_Mutation	SNP	ENST00000376436.1	37	c.1214T>C	CCDS13174.1	.	.	.	.	.	.	.	.	.	.	.	14.81	2.647161	0.47258	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412;ENST00000538750	T;T;T	0.18174	2.23;2.23;2.23	1.11	-0.201	0.13212	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09555	0.0235	N	0.25380	0.74	0.09310	N	1	B;B	0.28026	0.198;0.198	B;B	0.22152	0.027;0.038	T	0.30238	-0.9985	9	0.38643	T	0.18	.	4.3723	0.11253	0.7055:0.0:0.0:0.2945	.	373;405	B4DSM2;Q9Y3M9	.;ZN337_HUMAN	A	405;405;405;373	ENSP00000365619:V405A;ENSP00000252979:V405A;ENSP00000442181:V373A	ENSP00000252979:V405A	V	-	2	0	ZNF337	25604710	0.000000	0.05858	0.005000	0.12908	0.922000	0.55478	-2.761000	0.00786	-0.093000	0.12396	0.254000	0.18369	GTG		0.488	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			48	70	0	0	0	1	0	48	70					G	25656710	A	G	25656710	3	3	181	1	0	0	0	0	1	0	0	0	17850	159	6	3	1045	3	ZNF337	20	25656710	Missense_Mutation	SNP	A	TCGA-E8-A418-01A-11D-A23M-08		25656710	37368810	38	3839											
MCHR1	2847	broad.mit.edu	37	chr22	41077325	41077325	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtccaccccatctcttccaCgaagttccggaagccctctg	7	17	2	0	rs201808043		TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr22:41077325C>A	ENST00000249016.4	+	2	1358	c.662C>A	c.(661-663)aCg>aAg	p.T221K	MCHR1_ENST00000381433.2_Intron|MCHR1_ENST00000498400.1_3'UTR	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	221					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|melanin-concentrating hormone receptor activity (GO:0030273)|neuropeptide receptor activity (GO:0008188)			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						ATCTCTTCCACGAAGTTCCGG	0.587																																						ENST00000249016.4																			0				endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						c.(661-663)aCg>aAg		melanin-concentrating hormone receptor 1							156	132	140					22																	41077325		2203	4300	6503	SO:0001583	missense	0				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity	g.chr22:41077325C>A		CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285		"GPCR / Class A : MCH receptors"	4479	protein-coding gene	gene with protein product		601751	"G protein-coupled receptor 24"	GPR24			Standard	XM_005261581		Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000249016.4:c.662C>A	22.37:g.41077325C>A	ENSP00000249016:p.Thr221Lys					MCHR1_ENST00000381433.2_Intron|MCHR1_ENST00000498400.1_3'UTR	p.T221K	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN			2	1358	+			221					B2RBX6|Q5R3J1|Q96S47|Q9BV08	Missense_Mutation	SNP	ENST00000249016.4	37	c.662C>A	CCDS14004.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.504731	0.44558	.	.	ENSG00000128285	ENST00000249016	T	0.70749	-0.51	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.089884	0.85682	D	0.000000	T	0.50120	0.1597	N	0.11364	0.135	0.80722	D	1	P	0.39964	0.697	B	0.33890	0.172	T	0.59595	-0.7425	10	0.54805	T	0.06	.	14.1424	0.65327	0.0:0.8488:0.1511:0.0	.	221	Q99705	MCHR1_HUMAN	K	221	ENSP00000249016:T221K	ENSP00000249016:T221K	T	+	2	0	MCHR1	39407271	0.945000	0.32115	1.000000	0.80357	0.935000	0.57460	6.199000	0.72112	2.559000	0.86315	0.655000	0.94253	ACG		0.587	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317142.1	NM_005297		75	159	1	0	1.4051e-37	1	1.57041e-37	75	159					A	41077325	C	A	41077325	3	1	181	1	0	0	0	0	1	0	0	0	9382	536	19	4	668	4	MCHR1	22	41077325	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08		41077325	10227241	39	3840											
RAB40A	142684	broad.mit.edu	37	chrX	102754896	102754896	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtgcagtttttgggtgggctCtggggtgggcagacgatctc	18	7	2	1			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chrX:102754896C>T	ENST00000372633.1	-	1	2907	c.789G>A	c.(787-789)caG>caA	p.Q263Q	RAB40A_ENST00000304236.1_Silent_p.Q263Q|LL0XNC01-250H12.3_ENST00000445990.1_RNA			Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	263					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						TGGGTGGGCTCTGGGGTGGGC	0.527																																						ENST00000372633.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						c.(787-789)caG>caA		RAB40A, member RAS oncogene family							84	79	80					X																	102754896		2203	4300	6503	SO:0001819	synonymous_variant	142684				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chrX:102754896C>T	AF132748	CCDS35357.1	Xq22.1	2009-08-25			ENSG00000172476	ENSG00000172476		"RAB, member RAS oncogene"	18283	protein-coding gene	gene with protein product						11697911	Standard	NM_080879		Approved	RAR2A, Rar-2	uc004ekk.3	Q8WXH6	OTTHUMG00000022100	ENST00000372633.1:c.789G>A	X.37:g.102754896C>T						RAB40A_ENST00000304236.1_Silent_p.Q263Q|LL0XNC01-250H12.3_ENST00000445990.1_RNA	p.Q263Q			Q8WXH6	RB40A_HUMAN			1	2907	-			263					O00407|Q17RQ5|Q6DK06|Q8TF06	Silent	SNP	ENST00000372633.1	37	c.789G>A	CCDS35357.1																																																																																				0.527	RAB40A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057714.1			7	227	0	0	0	1	0	7	227					T	102754896	C	T	102754896	2	4	181	1	0	0	0	0	0	0	0	1	12939	912	32	2		2	RAB40A	23	102754896	Silent	SNP	C	TCGA-E8-A418-01A-11D-A23M-08		102754896	52515664	40	3841											
LMLN	89782	broad.mit.edu	37	chr3	197723067	197723067	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggaagcacgaaaacattttGattgtccagttctagaggga	11	6	1	2			TCGA-E8-A419-01A-11D-A23M-08	TCGA-E8-A419-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59d39493-4797-45ee-ae2b-bbb49c3a801d	bf895cab-a1b0-42e8-8b95-7cfe22084e9b	g.chr3:197723067G>A	ENST00000330198.4	+	10	1091	c.1069G>A	c.(1069-1071)Gat>Aat	p.D357N	RNU6-621P_ENST00000364752.1_RNA|LMLN_ENST00000420910.2_Missense_Mutation_p.D357N|LMLN_ENST00000482695.1_Missense_Mutation_p.D305N|LMLN_ENST00000332636.5_Missense_Mutation_p.D305N	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	357					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		AAAACATTTTGATTGTCCAGT	0.368																																						ENST00000330198.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1069-1071)Gat>Aat		leishmanolysin-like (metallopeptidase M8 family)							99	94	96					3																	197723067		2203	4300	6503	SO:0001583	missense	89782				cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	g.chr3:197723067G>A	AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.1069G>A	3.37:g.197723067G>A	ENSP00000328829:p.Asp357Asn					LMLN_ENST00000482695.1_Missense_Mutation_p.D305N|LMLN_ENST00000420910.2_Missense_Mutation_p.D357N|LMLN_ENST00000332636.5_Missense_Mutation_p.D305N	p.D357N	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)	10	1091	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	357					B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Missense_Mutation	SNP	ENST00000330198.4	37	c.1069G>A	CCDS3332.1	.	.	.	.	.	.	.	.	.	.	G	3.216	-0.160490	0.06502	.	.	ENSG00000185621	ENST00000482695;ENST00000330198;ENST00000420910;ENST00000332636	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	4.87	2.26	0.28386	.	0.389721	0.30142	N	0.010308	T	0.10680	0.0261	N	0.00801	-1.175	0.26970	N	0.965607	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0	B;B;B;B;B	0.11329	0.001;0.003;0.002;0.006;0.001	T	0.36553	-0.9743	10	0.02654	T	1	-11.0349	6.3886	0.21574	0.7085:0.0:0.2915:0.0	.	357;305;357;349;305	Q96KR4;F8WCE5;F8WB28;B4DR62;Q96KR4-2	LMLN_HUMAN;.;.;.;.	N	305;357;357;305	ENSP00000418324:D305N;ENSP00000328829:D357N;ENSP00000410926:D357N;ENSP00000328611:D305N	ENSP00000328829:D357N	D	+	1	0	LMLN	199207464	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	1.654000	0.37334	0.354000	0.24105	-0.511000	0.04467	GAT		0.368	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029		6	44	0	0	0	1	0	6	44					A	197723067	G	A	197723067	3	1	182	1	0	0	0	0	1	0	0	0	8847	1290	45	2	1107	2	LMLN	3	197723067	Missense_Mutation	SNP	G	TCGA-E8-A419-01A-11D-A23M-08		197723067	299363	1	3842											
CCRN4L	25819	broad.mit.edu	37	chr4	139966572	139966572	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccttcaattatccttcagacCacctgtctctagtgtgtgac	6	13	3	2			TCGA-E8-A419-01A-11D-A23M-08	TCGA-E8-A419-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59d39493-4797-45ee-ae2b-bbb49c3a801d	bf895cab-a1b0-42e8-8b95-7cfe22084e9b	g.chr4:139966572C>G	ENST00000280614.2	+	3	1433	c.1240C>G	c.(1240-1242)Cac>Gac	p.H414D	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	414					circadian regulation of gene expression (GO:0032922)|cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of gene expression (GO:0010629)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|regulation of circadian rhythm (GO:0042752)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|response to extracellular stimulus (GO:0009991)|response to lipopolysaccharide (GO:0032496)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A)-specific ribonuclease activity (GO:0004535)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					TCCTTCAGACCACCTGTCTCT	0.383																																					Ovarian(144;566 1842 19130 21379 22209)	ENST00000280614.2																			0				kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9						c.(1240-1242)Cac>Gac		CCR4 carbon catabolite repression 4-like (S. cerevisiae)							82	81	81					4																	139966572		2203	4300	6503	SO:0001583	missense	25819				rhythmic process|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:139966572C>G	AF183961	CCDS3743.1	4q31.1	2014-06-18	2001-11-28		ENSG00000151014	ENSG00000151014			14254	protein-coding gene	gene with protein product		608468	"CCR4-like (carbon catabolite repression 4, S.cerevisiae)"			10521507	Standard	NM_012118		Approved	CCR4L, Ccr4c	uc003ihl.3	Q9UK39	OTTHUMG00000161271	ENST00000280614.2:c.1240C>G	4.37:g.139966572C>G	ENSP00000280614:p.His414Asp					ELF2_ENST00000515489.1_Intron	p.H414D	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN			3	1433	+	all_hematologic(180;0.162)		414					D3DNY5|Q14D51|Q9HD93|Q9HD94|Q9HD95	Missense_Mutation	SNP	ENST00000280614.2	37	c.1240C>G	CCDS3743.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.636372	0.67130	.	.	ENSG00000151014	ENST00000280614	D	0.97906	-4.6	5.39	4.52	0.55395	Endonuclease/exonuclease/phosphatase (2);	0.098719	0.64402	D	0.000002	D	0.98998	0.9658	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99364	1.0918	9	.	.	.	-31.6505	15.0583	0.71933	0.1432:0.8568:0.0:0.0	.	414	Q9UK39	NOCT_HUMAN	D	414	ENSP00000280614:H414D	.	H	+	1	0	CCRN4L	140186022	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	7.749000	0.85096	1.213000	0.43380	0.585000	0.79938	CAC		0.383	CCRN4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257231.3	NM_012118		25	73	0	0	0	1	0	25	73					G	139966572	C	G	139966572	3	3	182	1	0	0	0	0	1	0	0	0	2951	594	21	4	1250	4	CCRN4L	4	139966572	Missense_Mutation	SNP	C	TCGA-E8-A419-01A-11D-A23M-08		139966572	51187704	2	3843											
NAF1	92345	broad.mit.edu	37	chr4	164050124	164050124	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtggtggagggggagggggTgggggtagggagtatggtaa	26	0	0	0			TCGA-E8-A419-01A-11D-A23M-08	TCGA-E8-A419-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59d39493-4797-45ee-ae2b-bbb49c3a801d	bf895cab-a1b0-42e8-8b95-7cfe22084e9b	g.chr4:164050124T>G	ENST00000274054.2	-	8	1603	c.1410A>C	c.(1408-1410)ccA>ccC	p.P470P	NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	470	Pro-rich.				pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				ggggagggggtgggggtaggg	0.522																																						ENST00000274054.2																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21						c.(1408-1410)ccA>ccC		nuclear assembly factor 1 ribonucleoprotein							10	10	10					4																	164050124		2188	4274	6462	SO:0001819	synonymous_variant	92345				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr4:164050124T>G		CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"nuclear assembly factor 1 homolog (S. cerevisiae)"			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.1410A>C	4.37:g.164050124T>G						NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	p.P470P	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN			8	1603	-	all_hematologic(180;0.166)	Prostate(90;0.109)	470			Pro-rich.		D3DP28|E9PAZ2	Silent	SNP	ENST00000274054.2	37	c.1410A>C	CCDS3803.1																																																																																				0.522	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		3	15	0	0	0	1	0	3	15					G	164050124	T	G	164050124	2	3	182	1	0	0	0	0	0	0	0	1	10140	1683	59	5		5	NAF1	4	164050124	Silent	SNP	T	TCGA-E8-A419-01A-11D-A23M-08	24083552	164050124	27104152	3	3844											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E8-A419-01A-11D-A23M-08	TCGA-E8-A419-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59d39493-4797-45ee-ae2b-bbb49c3a801d	bf895cab-a1b0-42e8-8b95-7cfe22084e9b	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		28	62	0	0	0	1	0	28	62					T	140453136	A	T	140453136	3	4	182	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E8-A419-01A-11D-A23M-08		140453136	18685527	4	3845											
SHC3	53358	broad.mit.edu	37	chr9	91628470	91628470	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggtggctgatactgtcaaaGactctgtcctttgtccggat	11	9	2	2			TCGA-E8-A419-01A-11D-A23M-08	TCGA-E8-A419-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59d39493-4797-45ee-ae2b-bbb49c3a801d	bf895cab-a1b0-42e8-8b95-7cfe22084e9b	g.chr9:91628470G>T	ENST00000375835.4	-	12	1983	c.1677C>A	c.(1675-1677)gtC>gtA	p.V559V		NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	559	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|insulin receptor signaling pathway (GO:0008286)|learning or memory (GO:0007611)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	signal transducer activity (GO:0004871)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						TACTGTCAAAGACTCTGTCCT	0.493																																						ENST00000375835.4																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						c.(1675-1677)gtC>gtA		SHC (Src homology 2 domain containing) transforming protein 3							149	150	149					9																	91628470		2203	4300	6503	SO:0001819	synonymous_variant	53358				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity	g.chr9:91628470G>T	D84361	CCDS6681.1	9q22.1	2013-02-14	2005-05-24		ENSG00000148082	ENSG00000148082		"SH2 domain containing"	18181	protein-coding gene	gene with protein product		605263	"src homology 2 domain containing transforming protein C3"			8808684	Standard	NM_016848		Approved	N-Shc, NSHC, SHCC	uc004aqf.2	Q92529	OTTHUMG00000020179	ENST00000375835.4:c.1677C>A	9.37:g.91628470G>T							p.V559V	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN			12	1983	-			559			SH2.		Q5T7I7|Q8TAP2|Q9UCX5	Silent	SNP	ENST00000375835.4	37	c.1677C>A	CCDS6681.1																																																																																				0.493	SHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052986.1	NM_016848		10	105	1	0	4.68919e-08	1	4.87676e-08	10	105					T	91628470	G	T	91628470	2	4	182	1	0	0	0	0	0	0	0	1	14272	929	33	4		4	SHC3	9	91628470	Silent	SNP	G	TCGA-E8-A419-01A-11D-A23M-08		91628470	49584961	5	3846											
MLL	4297	broad.mit.edu	37	chr11	118379887	118379887	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggaagttcaggtgacccaAaatccagcaaatgaacaaga	9	10	1	3			TCGA-E8-A419-01A-11D-A23M-08	TCGA-E8-A419-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59d39493-4797-45ee-ae2b-bbb49c3a801d	bf895cab-a1b0-42e8-8b95-7cfe22084e9b	g.chr11:118379887A>C	ENST00000389506.5	+	29	10863	c.10863A>C	c.(10861-10863)caA>caC	p.Q3621H	KMT2A_ENST00000354520.4_Missense_Mutation_p.Q3583H|RP11-770J1.3_ENST00000532597.1_RNA|KMT2A_ENST00000534358.1_Missense_Mutation_p.Q3624H			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3621					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										AGGTGACCCAAAATCCAGCAA	0.368																																						ENST00000534358.1																			0											c.(10870-10872)caA>caC		lysine (K)-specific methyltransferase 2A							84	81	82					11																	118379887		2200	4295	6495	SO:0001583	missense	4297							g.chr11:118379887A>C	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.10863A>C	11.37:g.118379887A>C	ENSP00000374157:p.Gln3621His					KMT2A_ENST00000389506.5_Missense_Mutation_p.Q3621H|KMT2A_ENST00000354520.4_Missense_Mutation_p.Q3583H	p.Q3624H	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					29	10895	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.10872A>C	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	A	12.88	2.069799	0.36566	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.82167	-1.58;-1.58;-1.54	6.1	0.942	0.19525	.	0.244121	0.42548	D	0.000694	T	0.73697	0.3620	L	0.36672	1.1	0.31372	N	0.679996	P;P	0.42785	0.79;0.79	B;B	0.41723	0.365;0.365	T	0.73000	-0.4120	10	0.49607	T	0.09	.	9.2122	0.37326	0.5089:0.0:0.4911:0.0	.	3624;3621	E9PQG7;Q03164	.;MLL1_HUMAN	H	3624;3621;3583;2531	ENSP00000436786:Q3624H;ENSP00000374157:Q3621H;ENSP00000346516:Q3583H	ENSP00000346516:Q3583H	Q	+	3	2	MLL	117885097	0.720000	0.27996	0.954000	0.39281	0.953000	0.61014	-0.062000	0.11674	0.160000	0.19432	0.491000	0.48974	CAA		0.368	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		4	38	0	0	0	1	0	4	38					C	118379887	A	C	118379887	3	2	182	1	0	0	0	0	1	0	0	0	9620	11	1	5	10977	5	MLL	11	118379887	Missense_Mutation	SNP	A	TCGA-E8-A419-01A-11D-A23M-08		118379887	16626629	6	3847											
CNTNAP4	85445	broad.mit.edu	37	chr16	76495940	76495940	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcggtggacggccagatggCttctgctgctcctctgctgg	16	12	2	1			TCGA-E8-A419-01A-11D-A23M-08	TCGA-E8-A419-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59d39493-4797-45ee-ae2b-bbb49c3a801d	bf895cab-a1b0-42e8-8b95-7cfe22084e9b	g.chr16:76495940C>G	ENST00000476707.1	+	8	1569	c.1430C>G	c.(1429-1431)gCt>gGt	p.A477G	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.A401G|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.A425G|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.A473G			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	474	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GGCCAGATGGCTTCTGCTGCT	0.488																																						ENST00000307431.8																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(1417-1419)gCt>gGt		contactin associated protein-like 4							99	89	92					16																	76495940		2198	4300	6498	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76495940C>G	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.1430C>G	16.37:g.76495940C>G	ENSP00000417628:p.Ala477Gly					CNTNAP4_ENST00000377504.4_Missense_Mutation_p.A425G|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.A401G|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.A477G	p.A473G	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			10	1803	+			474			Laminin G-like 2.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.1418C>G		.	.	.	.	.	.	.	.	.	.	C	9.223	1.033916	0.19590	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18	4.64	3.66	0.41972	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.966170	0.08460	N	0.942568	T	0.76681	0.4021	.	.	.	0.09310	N	1	B;B;B;B	0.31026	0.0;0.075;0.001;0.304	B;B;B;B	0.42851	0.012;0.219;0.019;0.4	T	0.66069	-0.6015	9	0.34782	T	0.22	.	10.1849	0.42991	0.0:0.7799:0.1423:0.0779	.	401;477;449;474	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	G	473;425;401;477	ENSP00000306893:A473G;ENSP00000439733:A425G;ENSP00000418741:A401G;ENSP00000417628:A477G	ENSP00000306893:A473G	A	+	2	0	CNTNAP4	75053441	0.095000	0.21747	0.005000	0.12908	0.033000	0.12548	2.783000	0.47766	1.266000	0.44231	0.650000	0.86243	GCT		0.488	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		7	60	0	0	0	1	0	7	60					G	76495940	C	G	76495940	3	3	182	1	0	0	0	0	1	0	0	0	3649	797	28	4	1468	4	CNTNAP4	16	76495940	Missense_Mutation	SNP	C	TCGA-E8-A419-01A-11D-A23M-08		76495940	13858813	7	3848											
KRTAP4-11	653240	broad.mit.edu	37	chr17	39274518	39274518	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggtctcctggcagaggtctCggccacagccttggtgagag	15	11	2	2	rs9897031	byFrequency	TCGA-E8-A419-01A-11D-A23M-08	TCGA-E8-A419-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59d39493-4797-45ee-ae2b-bbb49c3a801d	bf895cab-a1b0-42e8-8b95-7cfe22084e9b	g.chr17:39274518C>T	ENST00000391413.2	-	1	88	c.50G>A	c.(49-51)cGa>cAa	p.R17Q		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	17	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].			R -> Q (in Ref. 1; CAC27583 and 3; AAI26132/AAI30563). {ECO:0000305}.		keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGAGGTCTCGGCCACAGCC	0.592													t|||	3444	0.6877	0.9622	0.6686	5008	,	,		17251	0.4306		0.7137	False		,,,				2504	0.5685					ENST00000391413.2																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(49-51)cGa>cAa		keratin associated protein 4-11		T	GLN/ARG	1290,94		606,78,8	33	36	35		50	-0.2	0.3	17	dbSNP_119	35	2296,886		819,658,114	no	missense	KRTAP4-11	NM_033059.3	43	1425,736,122	TT,TC,CC		27.8441,6.7919,21.463	benign	17/196	39274518	3586,980	692	1591	2283	SO:0001583	missense	653240					keratin filament		g.chr17:39274518C>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"Keratin associated proteins"	18911	protein-coding gene	gene with protein product			"keratin associated protein 4-14"	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.50G>A	17.37:g.39274518C>T	ENSP00000375232:p.Arg17Gln						p.R17Q	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	88	-		Breast(137;0.000496)	17	R -> Q (in Ref. 1; CAC27583 and 3; AAI26132/AAI30563).		27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.50G>A	CCDS45675.1	1511	0.6918498168498168	470	0.9552845528455285	251	0.6933701657458563	250	0.4370629370629371	540	0.712401055408971	.	0.008	-1.890787	0.00527	0.932081	0.721559	ENSG00000212721	ENST00000391413	T	0.00590	6.36	2.47	-0.215	0.13157	.	1.088530	0.07528	N	0.911716	T	0.00012	0.0000	N	0.00517	-1.405	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.14117	-1.0484	9	0.10111	T	0.7	.	2.9268	0.05787	0.0:0.3197:0.248:0.4323	rs9897031;rs62066328	17	Q9BYQ6	KR411_HUMAN	Q	17	ENSP00000375232:R17Q	ENSP00000375232:R17Q	R	-	2	0	KRTAP4-11	36528044	0.092000	0.21681	0.304000	0.25085	0.113000	0.19764	2.115000	0.41921	-0.140000	0.11394	-0.684000	0.03749	CGA		0.592	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			4	58	0	0	0	1	0	4	58					T	39274518	C	T	39274518	3	4	182	1	0	0	0	0	1	0	0	0	8549	884	31	1	541	1	KRTAP4-11	17	39274518	Missense_Mutation	SNP	C	TCGA-E8-A419-01A-11D-A23M-08		39274518	41920692	8	3849											
ZNF223	7766	broad.mit.edu	37	chr19	44564909	44564909	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgtttacagggcatcaAccattccaccgagatacttt	6	12	1	1			TCGA-E8-A419-01A-11D-A23M-08	TCGA-E8-A419-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59d39493-4797-45ee-ae2b-bbb49c3a801d	bf895cab-a1b0-42e8-8b95-7cfe22084e9b	g.chr19:44564909A>G	ENST00000434772.3	+	4	405	c.150A>G	c.(148-150)caA>caG	p.Q50Q	ZNF223_ENST00000585552.1_Silent_p.Q50Q|ZNF223_ENST00000588518.1_3'UTR|ZNF223_ENST00000591793.1_Silent_p.Q160Q	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	50	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)			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				CAGGGCATCAACCATTCCACC	0.408																																						ENST00000591793.1																			0				endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(478-480)caA>caG		zinc finger protein 223							225	228	227					19																	44564909		2203	4300	6503	SO:0001819	synonymous_variant	7766				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44564909A>G	AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"Zinc fingers, C2H2-type", "-"	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.150A>G	19.37:g.44564909A>G						ZNF223_ENST00000588518.1_3'UTR|ZNF223_ENST00000585552.1_Silent_p.Q50Q|ZNF223_ENST00000434772.3_Silent_p.Q50Q	p.Q160Q			Q9UK11	ZN223_HUMAN			6	563	+		Prostate(69;0.0352)	50					Q15736|Q8TBJ3|Q9HCA9	Silent	SNP	ENST00000434772.3	37	c.480A>G	CCDS12635.1																																																																																				0.408	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460469.2			68	173	0	0	0	1	0	68	173					G	44564909	A	G	44564909	2	3	182	1	0	0	0	0	0	0	0	1	17774	40	2	3		3	ZNF223	19	44564909	Silent	SNP	A	TCGA-E8-A419-01A-11D-A23M-08		44564909	14564074	9	3850											
DOCK7	85440	broad.mit.edu	37	chr1	63044512	63044512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactcactgtatatccaactGgtgtttcaagaggagtattt	9	7	2	1			TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr1:63044512G>A	ENST00000340370.5	-	17	2014	c.1997C>T	c.(1996-1998)cCa>cTa	p.P666L	DOCK7_ENST00000251157.5_Missense_Mutation_p.P666L	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	666	DHR-1.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ATATCCAACTGGTGTTTCAAG	0.313																																						ENST00000251157.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(1996-1998)cCa>cTa		dedicator of cytokinesis 7							96	97	97					1																	63044512		2203	4300	6503	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63044512G>A		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.1997C>T	1.37:g.63044512G>A	ENSP00000340742:p.Pro666Leu					DOCK7_ENST00000340370.5_Missense_Mutation_p.P666L	p.P666L	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN			17	2030	-			666			DHR-1.		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.1997C>T	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	G	9.568	1.120367	0.20877	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370	T;T	0.14766	2.48;2.48	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.13372	0.0324	N	0.16567	0.415	0.80722	D	1	D;D;D;B	0.89917	0.999;0.968;1.0;0.006	D;D;D;B	0.91635	0.99;0.936;0.999;0.02	T	0.18335	-1.0340	10	0.11794	T	0.64	.	19.6873	0.95984	0.0:0.0:1.0:0.0	.	666;666;666;666	Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.	L	666	ENSP00000251157:P666L;ENSP00000340742:P666L	ENSP00000251157:P666L	P	-	2	0	DOCK7	62817100	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.657000	0.98554	2.890000	0.99128	0.585000	0.79938	CCA		0.313	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		5	29	0	0	0	1	0	5	29					A	63044512	G	A	63044512	3	1	183	1	0	0	0	0	1	0	0	0	4692	1348	47	2	4464	2	DOCK7	1	63044512	Missense_Mutation	SNP	G	TCGA-E8-A432-01A-11D-A23M-08		63044512	186206109	1	3851											
C1orf53	388722	broad.mit.edu	37	chr1	197871974	197871974	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccggagagagcggcgagGccttcggtgagcgaagagtt	19	8	0	3			TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr1:197871974G>A	ENST00000367393.3	+	1	198	c.195G>A	c.(193-195)agG>agA	p.R65R		NM_001024594.2	NP_001019765.1	Q5VUE5	CA053_HUMAN	chromosome 1 open reading frame 53	65										endometrium(1)|lung(1)	2						GAGCGGCGAGGCCTTCGGTGA	0.711																																						ENST00000367393.3																			0				endometrium(1)|lung(1)	2						c.(193-195)agG>agA		chromosome 1 open reading frame 53							11	13	12					1																	197871974		1904	4103	6007	SO:0001819	synonymous_variant	388722							g.chr1:197871974G>A	BC038214	CCDS44290.1	1q31.3	2011-01-26			ENSG00000203724	ENSG00000203724			30003	protein-coding gene	gene with protein product						15897902	Standard	NM_001024594		Approved		uc001guh.3	Q5VUE5	OTTHUMG00000035659	ENST00000367393.3:c.195G>A	1.37:g.197871974G>A							p.R65R	NM_001024594.2	NP_001019765.1	Q5VUE5	CA053_HUMAN			1	198	+			65					A1L4N2|Q5VUE4	Silent	SNP	ENST00000367393.3	37	c.195G>A	CCDS44290.1	.	.	.	.	.	.	.	.	.	.	G	8.636	0.894823	0.17613	.	.	ENSG00000203724	ENST00000436652	.	.	.	2.78	1.85	0.25348	.	.	.	.	.	T	0.26122	0.0637	.	.	.	0.19300	N	0.999979	.	.	.	.	.	.	T	0.20672	-1.0268	4	.	.	.	-12.2199	5.6004	0.17351	0.1585:0.0:0.8415:0.0	.	.	.	.	T	23	.	.	A	+	1	0	C1orf53	196138597	0.000000	0.05858	0.003000	0.11579	0.073000	0.16967	0.432000	0.21461	0.722000	0.32252	0.313000	0.20887	GCC		0.711	C1orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086555.1	NM_001024594		6	9	0	0	0	1	0	6	9					A	197871974	G	A	197871974	2	1	183	1	0	0	0	0	0	0	0	1	2045	1194	42	2		2	C1orf53	1	197871974	Silent	SNP	G	TCGA-E8-A432-01A-11D-A23M-08	134827462	197871974	51378647	2	3852											
TTN	7273	broad.mit.edu	37	chr2	179399347	179399347	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taccagtgttccaagtgaccAcatgtctgtggctgtgctga	11	10	1	2			TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr2:179399347A>T	ENST00000591111.1	-	308	97296	c.97072T>A	c.(97072-97074)Tgg>Agg	p.W32358R	TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W25126R|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W25059R|TTN_ENST00000460472.2_Missense_Mutation_p.W24934R|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.W33999R|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W31431R|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588257.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32358	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			CCAAGTGACCACATGTCTGTG	0.453																																						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.(101995-101997)Tgg>Agg		titin							121	118	119					2																	179399347		2023	4198	6221	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179399347A>T	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.97072T>A	2.37:g.179399347A>T	ENSP00000465570:p.Trp32358Arg					TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W25059R|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.W24934R|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W25126R|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.W32358R|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W31431R	p.W33999R	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)		358	102219	-			32358			Ig-like 150.		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.101995T>A		.	.	.	.	.	.	.	.	.	.	A	15.97	2.988421	0.53934	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	6.02	6.02	0.97574	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.87446	0.6179	H	0.98276	4.19	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	0.92115	0.5699	9	0.87932	D	0	.	15.5246	0.75894	1.0:0.0:0.0:0.0	.	24934;25059;25126;32358	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	31431;24934;25126;25059;24931	ENSP00000343764:W31431R;ENSP00000434586:W24934R;ENSP00000340554:W25126R;ENSP00000352154:W25059R	ENSP00000340554:W25126R	W	-	1	0	TTN	179107593	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.309000	0.96252	2.304000	0.77564	0.528000	0.53228	TGG		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	56	0	0	0	1	0	16	56					T	179399347	A	T	179399347	3	4	183	1	0	0	0	0	1	0	0	0	16732	159	6	5	6004	5	TTN	2	179399347	Missense_Mutation	SNP	A	TCGA-E8-A432-01A-11D-A23M-08		179399347	63800026	3	3853											
TMEM22	80723	broad.mit.edu	37	chr3	136574141	136574143	+	In_Frame_Del	DEL	AGA	AGA	-													agtatacagatccatcaaggAgaagatcagcatgtggactg							TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr3:136574141_136574143delAGA	ENST00000446465.2	+	2	1467_1469	c.839_841delAGA	c.(838-843)gagaag>gag	p.K281del	RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA|SLC35G2_ENST00000393079.3_In_Frame_Del_p.K281del	NM_025246.2	NP_079522.2			solute carrier family 35, member G2																		TCCATCAAGGAGAAGATCAGCAT	0.424																																						ENST00000446465.2																			0											c.(838-843)gag>g		solute carrier family 35, member G2																																				SO:0001651	inframe_deletion	80723					Golgi apparatus|integral to membrane		g.chr3:136574141_136574143delAGA	BC022557	CCDS3091.1	3q22.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000168917	ENSG00000168917		"Solute carriers"	28480	protein-coding gene	gene with protein product			"transmembrane protein 22"	TMEM22		11230166	Standard	NM_001097600		Approved	MGC3295, DKFZp564K2464	uc003erf.4	Q8TBE7	OTTHUMG00000159787	ENST00000446465.2:c.839_841delAGA	3.37:g.136574144_136574146delAGA	ENSP00000400839:p.Lys281del					SLC35G2_ENST00000393079.3_In_Frame_Del_p.EK280del|RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA	p.EK280del	NM_025246.2	NP_079522.2	Q8TBE7	TMM22_HUMAN			2	1467_1469	+			280			DUF6 2.			In_Frame_Del	DEL	ENST00000446465.2	37	c.839_841delAGA	CCDS3091.1																																																																																				0.424	SLC35G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357317.1	NM_025246		30	118						30	118	---	---	---	---	-	136574143	AGA	-	136574141	7	5	183	1	0	1	0	1	0	0	0	0	16140	304	11	0	841	0	TMEM22	3	136574141	In_Frame_Del	DEL	AGA	TCGA-E8-A432-01A-11D-A23M-08		136574141	61448289	4	3854											
PLCH1	23007	broad.mit.edu	37	chr3	155311968	155311968	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cactttgtaaatggaatcaaTaagtactgtgaggaaaatga	9	4	1	2			TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr3:155311968T>A	ENST00000340059.7	-	3	195	c.196A>T	c.(196-198)Att>Ttt	p.I66F	PLCH1_ENST00000447496.2_Missense_Mutation_p.I66F|PLCH1_ENST00000494598.1_Missense_Mutation_p.I66F|PLCH1_ENST00000414191.1_Missense_Mutation_p.I48F|PLCH1_ENST00000460012.1_Missense_Mutation_p.I48F|PLCH1_ENST00000334686.6_Missense_Mutation_p.I48F	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	66	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATGGAATCAATAAGTACTGTG	0.403																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(142-144)Att>Ttt		phospholipase C, eta 1							49	51	50					3																	155311968		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155311968T>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.196A>T	3.37:g.155311968T>A	ENSP00000345988:p.Ile66Phe					PLCH1_ENST00000447496.2_Missense_Mutation_p.I66F|PLCH1_ENST00000414191.1_Missense_Mutation_p.I48F|PLCH1_ENST00000334686.6_Missense_Mutation_p.I48F|PLCH1_ENST00000340059.7_Missense_Mutation_p.I66F|PLCH1_ENST00000494598.1_Missense_Mutation_p.I66F	p.I48F			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		4	499	-			66			PH.		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.142A>T	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.913668	0.92178	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	6.07	6.07	0.98685	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.84005	0.5377	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.991;0.994	D	0.86443	0.1768	10	0.87932	D	0	.	16.6288	0.85011	0.0:0.0:0.0:1.0	.	48;66;66	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	F	66;48;66;66;48;48	ENSP00000419100:I66F;ENSP00000417502:I48F;ENSP00000402759:I66F;ENSP00000345988:I66F;ENSP00000335469:I48F;ENSP00000412977:I48F	ENSP00000335469:I48F	I	-	1	0	PLCH1	156794662	1.000000	0.71417	0.999000	0.59377	0.917000	0.54804	7.930000	0.87610	2.326000	0.78906	0.533000	0.62120	ATT		0.403	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		18	32	0	0	0	1	0	18	32					A	155311968	T	A	155311968	3	1	183	1	0	0	0	0	1	0	0	0	12037	1406	49	5	4984	5	PLCH1	3	155311968	Missense_Mutation	SNP	T	TCGA-E8-A432-01A-11D-A23M-08	18737827	155311968	42710462	5	3855											
PDZD2	23037	broad.mit.edu	37	chr5	31983589	31983589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtctttcagctagaaaatGgcccagattctctcaaggag	9	9	4	2			TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr5:31983589G>A	ENST00000438447.1	+	3	1193	c.805G>A	c.(805-807)Ggc>Agc	p.G269S	PDZD2_ENST00000282493.3_Missense_Mutation_p.G269S			O15018	PDZD2_HUMAN	PDZ domain containing 2	269					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.G269S(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCTAGAAAATGGCCCAGATTC	0.557																																						ENST00000438447.1																			1	Substitution - Missense(1)	p.G269S(1)	lung(1)	NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(805-807)Ggc>Agc		PDZ domain containing 2							67	70	69					5																	31983589		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:31983589G>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.805G>A	5.37:g.31983589G>A	ENSP00000402033:p.Gly269Ser					PDZD2_ENST00000282493.3_Missense_Mutation_p.G269S	p.G269S			O15018	PDZD2_HUMAN			3	1193	+			269					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.805G>A	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062379	0.55432	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.06371	3.31;3.31	5.53	5.53	0.82687	.	0.000000	0.47852	D	0.000208	T	0.05273	0.0140	L	0.29908	0.895	0.42909	D	0.994258	B;P	0.41475	0.024;0.751	B;B	0.32677	0.007;0.15	T	0.50338	-0.8840	10	0.32370	T	0.25	.	14.9533	0.71091	0.0:0.0:1.0:0.0	.	95;269	B4E3P2;O15018	.;PDZD2_HUMAN	S	269	ENSP00000402033:G269S;ENSP00000282493:G269S	ENSP00000282493:G269S	G	+	1	0	PDZD2	32019346	1.000000	0.71417	0.999000	0.59377	0.488000	0.33401	2.503000	0.45407	2.597000	0.87782	0.460000	0.39030	GGC		0.557	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			21	56	0	0	0	1	0	21	56					A	31983589	G	A	31983589	3	1	183	1	0	0	0	0	1	0	0	0	11701	1348	47	2	811	2	PDZD2	5	31983589	Missense_Mutation	SNP	G	TCGA-E8-A432-01A-11D-A23M-08		31983589	148931671	6	3856											
ARSK	153642	broad.mit.edu	37	chr5	94891099	94891099	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgtggtgctggtcgtgagCgactccttcgtaagtaccgc	13	10	0	1			TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr5:94891099C>T	ENST00000380009.4	+	1	322	c.117C>T	c.(115-117)agC>agT	p.S39S	TTC37_ENST00000358746.2_5'Flank|ARSK_ENST00000504763.1_Silent_p.S39S	NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	39					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TGGTCGTGAGCGACTCCTTCG	0.701																																						ENST00000380009.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16						c.(115-117)agC>agT		arylsulfatase family, member K							26	25	26					5																	94891099		2202	4299	6501	SO:0001819	synonymous_variant	153642					extracellular region	arylsulfatase activity|metal ion binding	g.chr5:94891099C>T		CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"Arylsulfatase family"	25239	protein-coding gene	gene with protein product		610011	"arylsulfatase K"			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.117C>T	5.37:g.94891099C>T						ARSK_ENST00000504763.1_Silent_p.S39S	p.S39S	NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN		all cancers(79;6.5e-16)	1	322	+		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)	39					A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Silent	SNP	ENST00000380009.4	37	c.117C>T	CCDS4073.1																																																																																				0.701	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2	NM_198150		5	22	0	0	0	1	0	5	22					T	94891099	C	T	94891099	2	4	183	1	0	0	0	0	0	0	0	1	996	767	27	1		1	ARSK	5	94891099	Silent	SNP	C	TCGA-E8-A432-01A-11D-A23M-08	62907510	94891099	86024161	7	3857											
LNPEP	4012	broad.mit.edu	37	chr5	96358148	96358148	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgctctactactgccatgAaactgtttgatgactggatg	9	9	1	3			TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr5:96358148A>G	ENST00000231368.5	+	14	3213	c.2521A>G	c.(2521-2523)Aaa>Gaa	p.K841E	LNPEP_ENST00000395770.3_Missense_Mutation_p.K827E	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	841					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-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TACTGCCATGAAACTGTTTGA	0.443																																						ENST00000231368.5																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34						c.(2521-2523)Aaa>Gaa		leucyl/cystinyl aminopeptidase							98	90	93					5																	96358148		2203	4300	6503	SO:0001583	missense	4012				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96358148A>G	D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"cystinyl aminopeptidase", "placental leucine aminopeptidase"	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.2521A>G	5.37:g.96358148A>G	ENSP00000231368:p.Lys841Glu					LNPEP_ENST00000395770.3_Missense_Mutation_p.K827E	p.K841E	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN		COAD - Colon adenocarcinoma(37;0.072)	14	3213	+		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)	841					O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Missense_Mutation	SNP	ENST00000231368.5	37	c.2521A>G	CCDS4087.1	.	.	.	.	.	.	.	.	.	.	A	0.283	-0.985167	0.02180	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.05258	3.47;3.47	6.07	3.7	0.42460	.	0.747137	0.14618	N	0.308584	T	0.02418	0.0074	N	0.04355	-0.22	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.45071	-0.9286	10	0.02654	T	1	.	6.859	0.24056	0.6362:0.2899:0.0739:0.0	.	841	Q9UIQ6	LCAP_HUMAN	E	841;827	ENSP00000231368:K841E;ENSP00000379117:K827E	ENSP00000231368:K841E	K	+	1	0	LNPEP	96383904	0.000000	0.05858	0.997000	0.53966	0.402000	0.30811	0.460000	0.21924	1.094000	0.41399	-0.316000	0.08728	AAA		0.443	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575		12	22	0	0	0	1	0	12	22					G	96358148	A	G	96358148	3	3	183	1	0	0	0	0	1	0	0	0	8864	247	9	3	2575	3	LNPEP	5	96358148	Missense_Mutation	SNP	A	TCGA-E8-A432-01A-11D-A23M-08	1467049	96358148	84557112	8	3858											
BTN3A3	10384	broad.mit.edu	37	chr6	26452015	26452015	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgccagacaaccctgagagAtttgaatggcgttactgtgt	11	9	0	4			TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr6:26452015A>T	ENST00000244519.2	+	11	1374	c.1131A>T	c.(1129-1131)agA>agT	p.R377S	BTN3A3_ENST00000339789.4_Missense_Mutation_p.R335S|BTN3A3_ENST00000361232.3_Missense_Mutation_p.R328S	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	377	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						ACCCTGAGAGATTTGAATGGC	0.537																																						ENST00000244519.2																			0				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(1129-1131)agA>agT		butyrophilin, subfamily 3, member A3							101	107	105					6																	26452015		2203	4300	6503	SO:0001583	missense	10384					integral to membrane		g.chr6:26452015A>T	U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.1131A>T	6.37:g.26452015A>T	ENSP00000244519:p.Arg377Ser					BTN3A3_ENST00000361232.3_Missense_Mutation_p.R328S|BTN3A3_ENST00000339789.4_Missense_Mutation_p.R335S	p.R377S	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN			11	1374	+			377			B30.2/SPRY.		B4DWI7|E9PCP5	Missense_Mutation	SNP	ENST00000244519.2	37	c.1131A>T	CCDS4611.1	.	.	.	.	.	.	.	.	.	.	A	16.13	3.034928	0.54896	.	.	ENSG00000111801	ENST00000244519;ENST00000339789;ENST00000361232;ENST00000490254	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	2.95	0.345	0.16011	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.61223	0.2330	M	0.81802	2.56	0.32865	D	0.508517	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.57791	-0.7750	9	0.66056	D	0.02	.	6.1517	0.20316	0.7476:0.0:0.2524:0.0	.	328;377	E9PCP5;O00478	.;BT3A3_HUMAN	S	377;335;328;167	ENSP00000244519:R377S;ENSP00000344968:R335S;ENSP00000355238:R328S;ENSP00000419736:R167S	ENSP00000244519:R377S	R	+	3	2	BTN3A3	26559994	0.594000	0.26849	0.034000	0.17996	0.119000	0.20118	-0.073000	0.11468	-0.052000	0.13311	0.374000	0.22700	AGA		0.537	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040116.2	NM_006994		12	55	0	0	0	1	0	12	55					T	26452015	A	T	26452015	3	4	183	1	0	0	0	0	1	0	0	0	1564	330	12	5	1165	5	BTN3A3	6	26452015	Missense_Mutation	SNP	A	TCGA-E8-A432-01A-11D-A23M-08		26452015	144663052	9	3859											
ZNF76	7629	broad.mit.edu	37	chr6	35255551	35255551	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agacagaggtgggcttggagGacctggcagcagaggatgat	18	6	0	4			TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr6:35255551G>T	ENST00000373953.3	+	5	627	c.361G>T	c.(361-363)Gac>Tac	p.D121Y	ZNF76_ENST00000440666.2_Missense_Mutation_p.D95Y|ZNF76_ENST00000339411.5_Missense_Mutation_p.D121Y	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	121					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GGGCTTGGAGGACCTGGCAGC	0.607																																					Esophageal Squamous(52;92 1039 20612 23956 34676)	ENST00000373953.3																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						c.(361-363)Gac>Tac		zinc finger protein 76							110	96	101					6																	35255551		2203	4300	6503	SO:0001583	missense	7629				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:35255551G>T	M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"Zinc fingers, C2H2-type"	13149	protein-coding gene	gene with protein product		194549	"zinc finger protein 76 (expressed in testis)"	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.361G>T	6.37:g.35255551G>T	ENSP00000363064:p.Asp121Tyr					ZNF76_ENST00000440666.2_Missense_Mutation_p.D95Y|ZNF76_ENST00000339411.5_Missense_Mutation_p.D121Y	p.D121Y	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN			5	627	+			121					Q9BQB2	Missense_Mutation	SNP	ENST00000373953.3	37	c.361G>T	CCDS4801.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438693	0.43326	.	.	ENSG00000065029	ENST00000469195;ENST00000448999;ENST00000373953;ENST00000417184;ENST00000440666;ENST00000339411	T;T;T;T	0.10477	2.87;2.87;2.93;2.88	5.17	5.17	0.71159	.	0.150771	0.30528	N	0.009430	T	0.16599	0.0399	L	0.39898	1.24	0.50171	D	0.999854	P;D;P;P	0.89917	0.739;1.0;0.946;0.524	P;D;P;B	0.65874	0.466;0.939;0.824;0.425	T	0.00704	-1.1602	10	0.54805	T	0.06	.	17.4142	0.87495	0.0:0.0:1.0:0.0	.	121;121;121;121	B7Z851;B7Z991;P36508-2;P36508	.;.;.;ZNF76_HUMAN	Y	121;121;121;121;95;121	ENSP00000419106:D121Y;ENSP00000363064:D121Y;ENSP00000392243:D95Y;ENSP00000344097:D121Y	ENSP00000229405:D121Y	D	+	1	0	ZNF76	35363529	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	7.208000	0.77907	2.684000	0.91462	0.655000	0.94253	GAC		0.607	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040279.2	NM_003427		7	25	1	0	0.00198382	1	0.00204581	7	25					T	35255551	G	T	35255551	3	4	183	1	0	0	0	0	1	0	0	0	18132	1174	41	4	375	4	ZNF76	6	35255551	Missense_Mutation	SNP	G	TCGA-E8-A432-01A-11D-A23M-08	8803536	35255551	135859516	10	3860											
BAI3	577	broad.mit.edu	37	chr6	69666603	69666603	+	Frame_Shift_Del	DEL	A	A	-													gtcctgtgatggcggctgggAaaggcgaataaggacctgtc							TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr6:69666603delA	ENST00000370598.1	+	8	2248	c.1427delA	c.(1426-1428)gaafs	p.E476fs		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	476	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGCGGCTGGGAAAGGCGAATA	0.502																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(1426-1428)gafs		brain-specific angiogenesis inhibitor 3							160	153	155					6																	69666603		2203	4300	6503	SO:0001589	frameshift_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69666603delA	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1427delA	6.37:g.69666603delA	ENSP00000359630:p.Glu476fs						p.E476fs	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			8	2248	+		all_lung(197;0.212)	476			TSP type-1 4.		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Frame_Shift_Del	DEL	ENST00000370598.1	37	c.1427delA	CCDS4968.1																																																																																				0.502	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			23	101						23	101	---	---	---	---	-	69666603	A	-	69666603	7	5	183	1	0	1	0	1	0	0	0	0	1300	246	9	0	1449	0	BAI3	6	69666603	Frame_Shift_Del	DEL	A	TCGA-E8-A432-01A-11D-A23M-08	34411052	69666603	101448464	11	3861											
MTERF	7978	broad.mit.edu	37	chr7	91503312	91503312	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccagcagttcctcactgtTcaaattgaaagttgaccgta	7	10	2	2			TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr7:91503312T>C	ENST00000351870.3	-	3	889	c.796A>G	c.(796-798)Aac>Gac	p.N266D	MTERF_ENST00000481516.1_5'Flank|MTERF_ENST00000406735.2_Missense_Mutation_p.N246D|MTERF_ENST00000419292.1_Missense_Mutation_p.N246D	NM_006980.3	NP_008911.1	Q99551	MTEF1_HUMAN		266					DNA geometric change (GO:0032392)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of mitochondrial transcription (GO:0006393)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			TCCTCACTGTTCAAATTGAAA	0.383																																						ENST00000419292.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14						c.(736-738)Aac>Gac		mitochondrial transcription termination factor							48	49	48					7																	91503312		2203	4300	6503	SO:0001583	missense	7978				DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding	g.chr7:91503312T>C																												ENST00000351870.3:c.796A>G	7.37:g.91503312T>C	ENSP00000248643:p.Asn266Asp					CTB-104F4.2_ENST00000454222.1_RNA|MTERF_ENST00000351870.3_Missense_Mutation_p.N266D|MTERF_ENST00000406735.2_Missense_Mutation_p.N246D	p.N246D			Q99551	MTERF_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)		2	812	-	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		266					A4D1E3|Q32NF8|Q53H51|Q9BVR7	Missense_Mutation	SNP	ENST00000351870.3	37	c.736A>G	CCDS5621.1	.	.	.	.	.	.	.	.	.	.	T	9.825	1.186743	0.21870	.	.	ENSG00000127989	ENST00000419292;ENST00000351870;ENST00000406735	T;T;T	0.11821	2.74;2.74;2.74	4.94	1.3	0.21679	.	0.349882	0.27912	N	0.017354	T	0.06781	0.0173	N	0.16478	0.41	0.31784	N	0.630548	B	0.02656	0.0	B	0.06405	0.002	T	0.29579	-1.0007	10	0.17832	T	0.49	-0.4077	7.6884	0.28554	0.0:0.3231:0.0:0.6769	.	266	Q99551	MTERF_HUMAN	D	246;266;246	ENSP00000414116:N246D;ENSP00000248643:N266D;ENSP00000384986:N246D	ENSP00000248643:N266D	N	-	1	0	MTERF	91341248	0.956000	0.32656	0.488000	0.27440	0.893000	0.52053	1.614000	0.36911	0.408000	0.25621	0.477000	0.44152	AAC		0.383	MTERF-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000342896.1			5	39	0	0	0	1	0	5	39					C	91503312	T	C	91503312	3	2	183	1	0	0	0	0	1	0	0	0	9918	1783	62	3	407	3	MTERF	7	91503312	Missense_Mutation	SNP	T	TCGA-E8-A432-01A-11D-A23M-08		91503312	67635351	12	3862											
OR5D13	390142	broad.mit.edu	37	chr11	55541674	55541674	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacagccatcactatcttccAtggaactatccttttccttt	4	13	2	0			TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr11:55541674A>G	ENST00000361760.1	+	1	761	c.761A>G	c.(760-762)cAt>cGt	p.H254R		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				ACTATCTTCCATGGAACTATC	0.443																																						ENST00000361760.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(760-762)cAt>cGt		olfactory receptor, family 5, subfamily D, member 13							128	106	114					11																	55541674		2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541674A>G	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"GPCR / Class A : Olfactory receptors"	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.761A>G	11.37:g.55541674A>G	ENSP00000354800:p.His254Arg						p.H254R	NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN			1	761	+		all_epithelial(135;0.196)	254					Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.761A>G	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	A	12.25	1.883056	0.33255	.	.	ENSG00000198877	ENST00000361760	T	0.37235	1.21	3.82	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	0.235162	0.21682	U	0.070720	T	0.56046	0.1959	M	0.80028	2.48	0.18873	N	0.999985	D	0.58620	0.983	D	0.68943	0.961	T	0.41305	-0.9516	10	0.87932	D	0	-11.2799	8.4147	0.32664	0.7564:0.0:0.0:0.2436	.	254	Q8NGL4	OR5DD_HUMAN	R	254	ENSP00000354800:H254R	ENSP00000354800:H254R	H	+	2	0	OR5D13	55298250	0.000000	0.05858	0.811000	0.32455	0.322000	0.28314	1.365000	0.34182	1.535000	0.49220	0.398000	0.26397	CAT		0.443	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		22	50	0	0	0	1	0	22	50					G	55541674	A	G	55541674	3	3	183	1	0	0	0	0	1	0	0	0	11154	217	8	3	763	3	OR5D13	11	55541674	Missense_Mutation	SNP	A	TCGA-E8-A432-01A-11D-A23M-08		55541674	79464842	13	3863											
SLC22A6	9356	broad.mit.edu	37	chr11	62744805	62744805	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcagtcatgctcaccagtggGctcacgatgctgcccactcg	11	15	3	0			TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr11:62744805G>C	ENST00000377871.3	-	9	1682	c.1416C>G	c.(1414-1416)agC>agG	p.S472R	SLC22A6_ENST00000537349.1_5'Flank|SLC22A6_ENST00000360421.4_Missense_Mutation_p.S472R|SLC22A6_ENST00000421062.2_Intron|SLC22A6_ENST00000458333.2_Intron	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	472					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	TCACCAGTGGGCTCACGATGC	0.622																																						ENST00000377871.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1414-1416)agC>agG		solute carrier family 22 (organic anion transporter), member 6							62	50	54					11																	62744805		2201	4298	6499	SO:0001583	missense	9356				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	g.chr11:62744805G>C	AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"Solute carriers"	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.1416C>G	11.37:g.62744805G>C	ENSP00000367102:p.Ser472Arg					SLC22A6_ENST00000421062.2_Intron|SLC22A6_ENST00000360421.4_Missense_Mutation_p.S472R|SLC22A6_ENST00000458333.2_Intron	p.S472R	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN			9	1682	-			472					A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Missense_Mutation	SNP	ENST00000377871.3	37	c.1416C>G	CCDS31591.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633402	0.67015	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871	T;T	0.74106	-0.81;-0.81	4.76	4.76	0.60689	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.161504	0.56097	D	0.000039	D	0.86573	0.5965	M	0.89904	3.07	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.76575	0.988;0.979	D	0.87998	0.2754	10	0.87932	D	0	.	8.8027	0.34918	0.1001:0.0:0.8999:0.0	.	472;472	Q4U2R8;Q4U2R8-2	S22A6_HUMAN;.	R	472;451;472	ENSP00000353597:S472R;ENSP00000367102:S472R	ENSP00000353597:S472R	S	-	3	2	SLC22A6	62501381	0.720000	0.27996	1.000000	0.80357	0.975000	0.68041	-0.187000	0.09656	2.440000	0.82611	0.561000	0.74099	AGC		0.622	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	NM_004790		7	36	0	0	0	1	0	7	36					C	62744805	G	C	62744805	3	2	183	1	0	0	0	0	1	0	0	0	14458	1194	42	4	283	4	SLC22A6	11	62744805	Missense_Mutation	SNP	G	TCGA-E8-A432-01A-11D-A23M-08	7203131	62744805	72261711	14	3864											
KAT5	10524	broad.mit.edu	37	chr11	65484145	65484145	+	Frame_Shift_Del	DEL	C	C	-													ttttctcttgcagagttattCccagaacctgtgtcttttgg							TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr11:65484145delC	ENST00000377046.3	+	10	1210	c.938delC	c.(937-939)tccfs	p.S313fs	KAT5_ENST00000341318.4_Frame_Shift_Del_p.S346fs|KAT5_ENST00000534650.1_Frame_Shift_Del_p.S102fs|KAT5_ENST00000352980.4_Frame_Shift_Del_p.S261fs|KAT5_ENST00000530446.1_Frame_Shift_Del_p.S294fs	NM_006388.3	NP_006379.2	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	313	MYST-type HAT.				androgen receptor signaling pathway (GO:0030521)|cellular response to estradiol stimulus (GO:0071392)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|double-strand break repair (GO:0006302)|histone acetylation (GO:0016573)|negative regulation of interleukin-2 production (GO:0032703)|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)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of growth (GO:0040008)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|repressing transcription factor binding (GO:0070491)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						CAGAGTTATTCCCAGAACCTG	0.493																																						ENST00000341318.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						c.(1036-1038)tcfs		K(lysine) acetyltransferase 5							128	131	130					11																	65484145		2201	4297	6498	SO:0001589	frameshift_variant	10524				androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity	g.chr11:65484145delC	U74667	CCDS8109.1, CCDS8110.1, CCDS31610.1, CCDS55771.1	11q13	2013-01-10	2008-07-04	2008-07-04	ENSG00000172977	ENSG00000172977		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing"	5275	protein-coding gene	gene with protein product	"Tat interacting protein, 60kDa", "K-acetyltransferase 5"	601409	"HIV-1 Tat interactive protein, 60kDa"	HTATIP		8607265	Standard	NM_006388		Approved	TIP60, PLIP, cPLA2, HTATIP1, ESA1, ZC2HC5	uc001ofk.3	Q92993	OTTHUMG00000166617	ENST00000377046.3:c.938delC	11.37:g.65484145delC	ENSP00000366245:p.Ser313fs					KAT5_ENST00000530446.1_Frame_Shift_Del_p.S294fs|KAT5_ENST00000534650.1_Frame_Shift_Del_p.S102fs|KAT5_ENST00000377046.3_Frame_Shift_Del_p.S313fs|KAT5_ENST00000352980.4_Frame_Shift_Del_p.S261fs	p.S346fs	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN			9	1271	+			313					B4E3C7|C9JL99|O95624|Q13430|Q17RW5|Q561W3|Q6GSE8|Q9BWK7	Frame_Shift_Del	DEL	ENST00000377046.3	37	c.1037delC	CCDS31610.1																																																																																				0.493	KAT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390866.2	NM_006388		22	61						22	61	---	---	---	---	-	65484145	C	-	65484145	7	5	183	1	0	1	0	1	0	0	0	0	7983	855	30	0	1071	0	KAT5	11	65484145	Frame_Shift_Del	DEL	C	TCGA-E8-A432-01A-11D-A23M-08	2739340	65484145	69522371	15	3865											
POU2AF1	5450	broad.mit.edu	37	chr11	111228203	111228203	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagtggcggagaggcataGgtcaacactgaggagggccc	17	8	1	3			TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr11:111228203G>A	ENST00000393067.3	-	4	937	c.423C>T	c.(421-423)acC>acT	p.T141T		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	141			T -> A (in dbSNP:rs1042750).		humoral immune response (GO:0006959)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		GAGAGGCATAGGTCAACACTG	0.577			T	BCL6	NHL																																	ENST00000393067.3				Dom	yes		11	11q23.1	5450	T	"POU domain, class 2, associating factor 1 (OBF1)"			L	BCL6		NHL		0				breast(1)|kidney(2)|lung(2)	5						c.(421-423)acC>acT		POU class 2 associating factor 1							79	68	72					11																	111228203		2201	4297	6498	SO:0001819	synonymous_variant	5450				humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr11:111228203G>A		CCDS31675.1	11q23.1	2011-06-01	2007-07-13			ENSG00000110777			9211	protein-coding gene	gene with protein product		601206	"POU domain class 2, associating factor 1"			8617501	Standard	NM_006235		Approved	OBF1	uc001plg.4	Q16633		ENST00000393067.3:c.423C>T	11.37:g.111228203G>A							p.T141T	NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)	4	937	-		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)	141		T -> A (in dbSNP:rs1042750).			B2R8Z9|Q14983	Silent	SNP	ENST00000393067.3	37	c.423C>T	CCDS31675.1																																																																																				0.577	POU2AF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391002.1	NM_006235		11	49	0	0	0	1	0	11	49					A	111228203	G	A	111228203	2	1	183	1	0	0	0	0	0	0	0	1	12270	987	35	2		2	POU2AF1	11	111228203	Silent	SNP	G	TCGA-E8-A432-01A-11D-A23M-08	45744058	111228203	23778313	16	3866											
MLL2	8085	broad.mit.edu	37	chr12	49445334	49445334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggacatgagcgagtcctccGgtggtggggaagcaggtgag	20	7	0	2			TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr12:49445334G>A	ENST00000301067.7	-	10	2131	c.2132C>T	c.(2131-2133)cCg>cTg	p.P711L		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	711	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	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)										CGAGTCCTCCGGTGGTGGGGA	0.672																																						ENST00000301067.7																			0											c.(2131-2133)cCg>cTg		lysine (K)-specific methyltransferase 2D							45	52	50					12																	49445334		2043	4193	6236	SO:0001583	missense	8085							g.chr12:49445334G>A	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.2132C>T	12.37:g.49445334G>A	ENSP00000301067:p.Pro711Leu						p.P711L	NM_003482.3	NP_003473.3					10	2131	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.2132C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.017972	0.35606	.	.	ENSG00000167548	ENST00000301067	T	0.80994	-1.44	4.28	3.35	0.38373	.	.	.	.	.	T	0.61248	0.2332	N	0.14661	0.345	0.19945	N	0.999949	P	0.47545	0.897	B	0.35971	0.215	T	0.55592	-0.8117	9	0.87932	D	0	.	7.255	0.26171	0.0:0.1885:0.6171:0.1944	.	711	O14686	MLL2_HUMAN	L	711	ENSP00000301067:P711L	ENSP00000301067:P711L	P	-	2	0	MLL2	47731601	0.960000	0.32886	0.021000	0.16686	0.016000	0.09150	2.252000	0.43196	1.119000	0.41883	0.313000	0.20887	CCG		0.672	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			16	81	0	0	0	1	0	16	81					A	49445334	G	A	49445334	3	1	183	1	0	0	0	0	1	0	0	0	9621	1116	39	1	14661	1	MLL2	12	49445334	Missense_Mutation	SNP	G	TCGA-E8-A432-01A-11D-A23M-08		49445334	84406561	17	3867											
ZC3H13	23091	broad.mit.edu	37	chr13	46549950	46549950	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcattccttccctgatgtcGaattggtgagcttggtcttt	10	9	2	2			TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr13:46549950G>A	ENST00000242848.4	-	12	2284	c.1936C>T	c.(1936-1938)Cga>Tga	p.R646*	ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.R646*			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	646	Arg/Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R646*(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CCCTGATGTCGAATTGGTGAG	0.403																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			1	Substitution - Nonsense(1)	p.R646*(1)	large_intestine(1)	cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(1936-1938)Cga>Tga		zinc finger CCCH-type containing 13							175	127	143					13																	46549950		2203	4300	6503	SO:0001587	stop_gained	23091						nucleic acid binding|zinc ion binding	g.chr13:46549950G>A	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.1936C>T	13.37:g.46549950G>A	ENSP00000242848:p.Arg646*					ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.R646*	p.R646*			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	12	2284	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	646			Arg/Ser-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Nonsense_Mutation	SNP	ENST00000242848.4	37	c.1936C>T		.	.	.	.	.	.	.	.	.	.	G	41	8.905630	0.98998	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	.	.	.	5.27	5.27	0.74061	.	0.000000	0.49916	D	0.000131	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1291	0.65240	0.0:0.0:0.8498:0.1502	.	.	.	.	X	646;646;462	.	ENSP00000242848:R646X	R	-	1	2	ZC3H13	45447951	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.093000	0.57714	2.607000	0.88179	0.557000	0.71058	CGA		0.403	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		12	27	0	0	0	1	0	12	27					A	46549950	G	A	46549950	4	1	183	1	0	0	0	0	0	1	0	0	17562	1066	37	1	2782	1	ZC3H13	13	46549950	Nonsense_Mutation	SNP	G	TCGA-E8-A432-01A-11D-A23M-08		46549950	68619928	18	3868											
C15orf2	23742	broad.mit.edu	37	chr15	24921341	24921341	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggaaccccccgaggtttggAcaccccagttccgtaaggat	11	14	0	0			TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr15:24921341A>G	ENST00000329468.2	+	1	801	c.327A>G	c.(325-327)ggA>ggG	p.G109G		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	109					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CGAGGTTTGGACACCCCAGTT	0.677																																						ENST00000329468.2																			0											c.(325-327)ggA>ggG		nuclear pore associated protein 1							49	40	43					15																	24921341		2201	4293	6494	SO:0001819	synonymous_variant	23742							g.chr15:24921341A>G	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.327A>G	15.37:g.24921341A>G							p.G109G	NM_018958.2	NP_061831.2					1	801	+									Silent	SNP	ENST00000329468.2	37	c.327A>G	CCDS10015.1																																																																																				0.677	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		9	56	0	0	0	1	0	9	56					G	24921341	A	G	24921341	2	3	183	1	0	0	0	0	0	0	0	1	1784	262	10	3		3	C15orf2	15	24921341	Silent	SNP	A	TCGA-E8-A432-01A-11D-A23M-08		24921341	77610051	19	3869											
ALPK3	57538	broad.mit.edu	37	chr15	85383174	85383174	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcagccccgaccgcttcCagcgaaagcggcgattgagc	12	15	1	1			TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr15:85383174C>T	ENST00000258888.5	+	5	1437	c.1270C>T	c.(1270-1272)Cag>Tag	p.Q424*		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	424					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CGACCGCTTCCAGCGAAAGCG	0.692																																						ENST00000258888.5																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(1270-1272)Cag>Tag		alpha-kinase 3							25	28	27					15																	85383174		2203	4299	6502	SO:0001587	stop_gained	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85383174C>T	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.1270C>T	15.37:g.85383174C>T	ENSP00000258888:p.Gln424*						p.Q424*	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		5	1437	+			424					Q9P2L6	Nonsense_Mutation	SNP	ENST00000258888.5	37	c.1270C>T	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	C	39	7.335001	0.98217	.	.	ENSG00000136383	ENST00000258888	.	.	.	4.95	4.95	0.65309	.	0.204155	0.40469	N	0.001082	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-18.7845	15.683	0.77388	0.0:1.0:0.0:0.0	.	.	.	.	X	424	.	ENSP00000258888:Q424X	Q	+	1	0	ALPK3	83184178	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	3.630000	0.54273	2.273000	0.75805	0.563000	0.77884	CAG		0.692	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		6	25	0	0	0	1	0	6	25					T	85383174	C	T	85383174	4	4	183	1	0	0	0	0	0	1	0	0	546	595	21	2	1288	2	ALPK3	15	85383174	Nonsense_Mutation	SNP	C	TCGA-E8-A432-01A-11D-A23M-08	60461833	85383174	17148218	20	3870											
PIK3R6	146850	broad.mit.edu	37	chr17	8742936	8742936	+	Frame_Shift_Del	DEL	T	T	-													ccagctggctcttaccttggTtgctctgcagggcaggggcc							TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr17:8742936delT	ENST00000311434.9	-	3	331	c.92delA	c.(91-93)aacfs	p.N31fs	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	31					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										CTTACCTTGGTTGCTCTGCAG	0.647																																						ENST00000311434.9																			0											c.(91-93)acfs		phosphoinositide-3-kinase, regulatory subunit 6							16	18	18					17																	8742936		1955	4124	6079	SO:0001589	frameshift_variant	146850				platelet activation	cytosol		g.chr17:8742936delT	AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"chromosome 17 open reading frame 38"	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.92delA	17.37:g.8742936delT	ENSP00000475670:p.Asn31fs					PIK3R6_ENST00000434064.2_5'UTR	p.N31fs	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN			3	331	-			31					Q658R3	Frame_Shift_Del	DEL	ENST00000311434.9	37	c.92delA																																																																																					0.647	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001010855		2	4						2	4	---	---	---	---	-	8742936	T	-	8742936	7	5	183	1	0	1	0	1	0	0	0	0	11923	1725	60	0	2243	0	PIK3R6	17	8742936	Frame_Shift_Del	DEL	T	TCGA-E8-A432-01A-11D-A23M-08		8742936	72452274	21	3871											
PIK3R5	23533	broad.mit.edu	37	chr17	8790952	8790952	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcacaggcacgtagaagaaCtgaagtttgaagaaccgtgt	11	7	1	5			TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr17:8790952C>A	ENST00000447110.1	-	11	1789	c.1665G>T	c.(1663-1665)caG>caT	p.Q555H	PIK3R5_ENST00000581552.1_Missense_Mutation_p.Q555H|PIK3R5_ENST00000584803.1_Missense_Mutation_p.Q555H	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	555					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CGTAGAAGAACTGAAGTTTGA	0.607																																					NSCLC(18;589 615 7696 20311 50332)	ENST00000447110.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(1663-1665)caG>caT		phosphoinositide-3-kinase, regulatory subunit 5							55	45	48					17																	8790952		2202	4300	6502	SO:0001583	missense	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8790952C>A	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.1665G>T	17.37:g.8790952C>A	ENSP00000392812:p.Gln555His					PIK3R5_ENST00000584803.1_Missense_Mutation_p.Q555H|PIK3R5_ENST00000581552.1_Missense_Mutation_p.Q555H	p.Q555H	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN			11	1789	-			555					B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	c.1665G>T	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.844395	0.32606	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	D	0.83506	-1.73	4.94	2.92	0.33932	.	0.000000	0.85682	D	0.000000	T	0.69708	0.3141	L	0.34521	1.04	0.48135	D	0.999596	B	0.31837	0.342	B	0.30855	0.121	T	0.67503	-0.5654	10	0.56958	D	0.05	-29.9959	3.7934	0.08730	0.1325:0.5819:0.1291:0.1565	.	555	Q8WYR1	PI3R5_HUMAN	H	555	ENSP00000392812:Q555H	ENSP00000269300:Q555H	Q	-	3	2	PIK3R5	8731677	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.982000	0.29539	1.310000	0.45006	0.655000	0.94253	CAG		0.607	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		3	11	1	0	0.115264	1	0.115264	3	11					A	8790952	C	A	8790952	3	1	183	1	0	0	0	0	1	0	0	0	11922	564	20	4	1013	4	PIK3R5	17	8790952	Missense_Mutation	SNP	C	TCGA-E8-A432-01A-11D-A23M-08	48016	8790952	72404258	22	3872											
ZNF763	284390	broad.mit.edu	37	chr19	12087920	12087920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgggctttgctggatatttCgcagaggaaactctacaggg	14	7	1	1	rs201480354		TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr19:12087920C>T	ENST00000358987.3	+	2	198	c.71C>T	c.(70-72)tCg>tTg	p.S24L	ZNF763_ENST00000343949.5_Missense_Mutation_p.S27L|ZNF763_ENST00000545530.1_Intron|ZNF763_ENST00000538752.1_Missense_Mutation_p.S44L|ZNF763_ENST00000592625.1_Missense_Mutation_p.S24L|ZNF763_ENST00000590798.1_Missense_Mutation_p.S44L|ZNF763_ENST00000591944.1_Missense_Mutation_p.S93L			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	24	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S26L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						CTGGATATTTCGCAGAGGAAA	0.493																																						ENST00000343949.5																			1	Substitution - Missense(1)	p.S26L(1)	large_intestine(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						c.(79-81)tCg>tTg		zinc finger protein 763		C	LEU/SER	0,4406		0,0,2203	149	151	150		80	-1.7	0.0	19		150	2,8598	2.2+/-6.3	0,2,4298	no	missense	ZNF763	NM_001012753.1	145	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		27/398	12087920	2,13004	2203	4300	6503	SO:0001583	missense	284390							g.chr19:12087920C>T	AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"Zinc fingers, C2H2-type", "-"	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.71C>T	19.37:g.12087920C>T	ENSP00000402017:p.Ser24Leu					ZNF763_ENST00000538752.1_Missense_Mutation_p.S44L|ZNF763_ENST00000592625.1_Missense_Mutation_p.S24L|ZNF763_ENST00000358987.3_Missense_Mutation_p.S24L|ZNF763_ENST00000591944.1_Missense_Mutation_p.S93L|ZNF763_ENST00000545530.1_Intron|ZNF763_ENST00000590798.1_Missense_Mutation_p.S44L	p.S27L	NM_001012753.1	NP_001012771.1					2	235	+								B3KRU3|B4DRE7	Missense_Mutation	SNP	ENST00000358987.3	37	c.80C>T		.	.	.	.	.	.	.	.	.	.	c	9.730	1.162007	0.21538	0.0	2.33E-4	ENSG00000197054	ENST00000538752;ENST00000343949;ENST00000358987	T;T;T	0.01838	4.61;4.61;4.61	0.864	-1.73	0.08081	Krueppel-associated box (4);	.	.	.	.	T	0.04815	0.0130	M	0.90082	3.085	0.09310	N	1	P;P;B	0.38767	0.593;0.646;0.331	B;B;B	0.35655	0.131;0.207;0.019	T	0.03221	-1.1059	9	0.59425	D	0.04	.	6.6454	0.22933	0.0:0.5087:0.0:0.4913	.	44;24;27	F5H0A9;Q0D2J5;Q0D2J5-2	.;ZN763_HUMAN;.	L	44;27;24	ENSP00000438117:S44L;ENSP00000369774:S27L;ENSP00000402017:S24L	ENSP00000369774:S27L	S	+	2	0	ZNF763	11948920	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.467000	0.06664	-1.501000	0.01817	-1.076000	0.02234	TCG		0.493	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000344158.1	NM_001012753		45	91	0	0	0	1	0	45	91					T	12087920	C	T	12087920	3	4	183	1	0	0	0	0	1	0	0	0	18134	893	31	1	86	1	ZNF763	19	12087920	Missense_Mutation	SNP	C	TCGA-E8-A432-01A-11D-A23M-08		12087920	47041063	23	3873											
GATA5	140628	broad.mit.edu	37	chr20	61041598	61041598	+	Frame_Shift_Del	DEL	G	G	-													gcagcagaggccggcgcggcGggacgaggactgtgggggcg					rs367777789		TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chr20:61041598delG	ENST00000252997.2	-	4	770	c.709delC	c.(709-711)cgcfs	p.R238fs		NM_080473.4	NP_536721.1	Q9BWX5	GATA5_HUMAN	GATA binding protein 5	238					blood coagulation (GO:0007596)|cellular response to BMP stimulus (GO:0071773)|intestinal epithelial cell differentiation (GO:0060575)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			kidney(1)|lung(3)|ovary(1)|stomach(1)	6	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)			CCGGCGCGGCGGGACGAGGAC	0.721																																						ENST00000252997.2																			0				kidney(1)|lung(3)|ovary(1)|stomach(1)	6						c.(709-711)gcfs		GATA binding protein 5							18	19	19					20																	61041598		2128	4166	6294	SO:0001589	frameshift_variant	140628				blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:61041598delG	BC047790, BC117356	CCDS13499.1	20q13.33	2013-07-17	2001-11-28		ENSG00000130700	ENSG00000130700		"GATA zinc finger domain containing"	15802	protein-coding gene	gene with protein product		611496	"GATA-binding protein 5"			9566909	Standard	NM_080473		Approved	bB379O24.1, GATAS	uc002ycx.1	Q9BWX5	OTTHUMG00000032919	ENST00000252997.2:c.709delC	20.37:g.61041598delG	ENSP00000252997:p.Arg238fs						p.R238fs	NM_080473.4	NP_536721.1	Q9BWX5	GATA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.08e-06)		4	770	-	Breast(26;2.05e-08)		238					D9ZGF7|Q17RE2|Q86VU4	Frame_Shift_Del	DEL	ENST00000252997.2	37	c.709delC	CCDS13499.1																																																																																				0.721	GATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080038.2	NM_080473		2	4						2	4	---	---	---	---	-	61041598	G	-	61041598	7	5	183	1	0	1	0	1	0	0	0	0	6257	1116	39	0	500	0	GATA5	20	61041598	Frame_Shift_Del	DEL	G	TCGA-E8-A432-01A-11D-A23M-08		61041598	1983922	24	3874											
HCFC1	3054	broad.mit.edu	37	chrX	153219825	153219825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccaccctcgggctggcccGtgcccccgtttgaagtagcg	13	17	0	1			TCGA-E8-A432-01A-11D-A23M-08	TCGA-E8-A432-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d434e375-e0a6-4f04-b106-ab3c84590b36	2a2116f3-bd77-4060-91f8-11f3d1af5327	g.chrX:153219825G>A	ENST00000310441.7	-	17	4991	c.4025C>T	c.(4024-4026)aCg>aTg	p.T1342M	HCFC1_ENST00000354233.3_Missense_Mutation_p.T1273M|HCFC1_ENST00000369984.4_Missense_Mutation_p.T1342M	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1342					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)					GGGCTGGCCCGTGCCCCCGTT	0.687													G|||	1	0.000264901	8e-04	0	3775	,	,		11235	0		0	False		,,,				2504	0					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.(4024-4026)aCg>aTg		host cell factor C1 (VP16-accessory protein)							70	82	78					X																	153219825		2124	4193	6317	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:153219825G>A		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.4025C>T	X.37:g.153219825G>A	ENSP00000309555:p.Thr1342Met					HCFC1_ENST00000369984.4_Missense_Mutation_p.T1342M|HCFC1_ENST00000354233.3_Missense_Mutation_p.T1273M	p.T1342M	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			17	4991	-	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)		1342					Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.4025C>T	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	g	5.441	0.266477	0.10294	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.03124	4.05;4.04;4.06	5.55	3.79	0.43588	.	0.588277	0.18908	N	0.127834	T	0.02380	0.0073	N	0.08118	0	0.09310	N	1	B	0.24675	0.109	B	0.19148	0.024	T	0.44050	-0.9353	10	0.62326	D	0.03	.	9.8184	0.40867	0.0795:0.1368:0.7838:0.0	.	1342	P51610	HCFC1_HUMAN	M	1342;1342;1273	ENSP00000309555:T1342M;ENSP00000359001:T1342M;ENSP00000346174:T1273M	ENSP00000309555:T1342M	T	-	2	0	HCFC1	152873019	0.043000	0.20138	0.001000	0.08648	0.011000	0.07611	2.271000	0.43364	0.522000	0.28464	-0.213000	0.12676	ACG		0.687	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		5	189	0	0	0	1	0	5	189					A	153219825	G	A	153219825	3	1	183	1	0	0	0	0	1	0	0	0	6991	1145	40	1	2122	1	HCFC1	23	153219825	Missense_Mutation	SNP	G	TCGA-E8-A432-01A-11D-A23M-08		153219825	2050735	25	3875											
ASAP2	8853	broad.mit.edu	37	chr2	9463376	9463376	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttccagctacagatgtgCgaggtaaggcggtggtgaag	15	7	1	2			TCGA-E8-A433-01A-11D-A23M-08	TCGA-E8-A433-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54f7b709-1f2d-4424-9180-cb52ecd97676	a9dad2a0-43d5-4c1d-932d-460d6753a72d	g.chr2:9463376C>T	ENST00000281419.3	+	6	937	c.597C>T	c.(595-597)tgC>tgT	p.C199C	ASAP2_ENST00000315273.4_Silent_p.C199C	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	199					positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)	p.C199C(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						TACAGATGTGCGAGGTAAGGC	0.572																																						ENST00000281419.3																			1	Substitution - coding silent(1)	p.C199C(1)	prostate(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						c.(595-597)tgC>tgT		ArfGAP with SH3 domain, ankyrin repeat and PH domain 2							122	122	122					2																	9463376		2203	4300	6503	SO:0001819	synonymous_variant	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9463376C>T	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2721	protein-coding gene	gene with protein product	"centaurin, beta 3"	603817	"development and differentiation enhancing factor 2"	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.597C>T	2.37:g.9463376C>T						ASAP2_ENST00000315273.4_Silent_p.C199C	p.C199C	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN			6	937	+			199					D6W4Y8	Silent	SNP	ENST00000281419.3	37	c.597C>T	CCDS1661.1																																																																																				0.572	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		57	139	0	0	0	1	0	57	139					T	9463376	C	T	9463376	2	4	184	1	0	0	0	0	0	0	0	1	1011	776	27	1		1	ASAP2	2	9463376	Silent	SNP	C	TCGA-E8-A433-01A-11D-A23M-08		9463376	233735997	1	3876											
ANKRD36	375248	broad.mit.edu	37	chr2	97790244	97790246	+	In_Frame_Del	DEL	TTC	TTC	-													tggagaaaaagatatagtcaTtcttcttctgcagcacaata					rs367670018	byFrequency	TCGA-E8-A433-01A-11D-A23M-08	TCGA-E8-A433-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54f7b709-1f2d-4424-9180-cb52ecd97676	a9dad2a0-43d5-4c1d-932d-460d6753a72d	g.chr2:97790244_97790246delTTC	ENST00000461153.2	+	5	885_887	c.641_643delTTC	c.(640-645)attctt>att	p.L217del	ANKRD36_ENST00000420699.2_In_Frame_Del_p.L217del			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	217								p.L215I(1)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GATATAGTCATTCTTCTTCTGCA	0.35														37	0.00738818	0	0	5008	,	,		20583	0.0367		0	False		,,,				2504	0					ENST00000420699.2																			1	Substitution - Missense(1)	p.L215I(1)	prostate(1)	endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(640-645)att>a		ankyrin repeat domain 36																																				SO:0001651	inframe_deletion	375248							g.chr2:97790244_97790246delTTC	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.641_643delTTC	2.37:g.97790250_97790252delTTC	ENSP00000419530:p.Leu217del					ANKRD36_ENST00000461153.2_In_Frame_Del_p.IL214del	p.IL214del	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			5	885_887	+			214					B4E3I8|Q6UX02|Q86X62|Q9HCD1	In_Frame_Del	DEL	ENST00000461153.2	37	c.641_643delTTC	CCDS54379.1																																																																																				0.35	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			3	3						3	3	---	---	---	---	-	97790246	TTC	-	97790244	7	5	184	1	0	1	0	1	0	0	0	0	665	1493	52	0	659	0	ANKRD36	2	97790244	In_Frame_Del	DEL	TTC	TCGA-E8-A433-01A-11D-A23M-08	88326868	97790244	145409129	2	3877											
SF3B1	23451	broad.mit.edu	37	chr2	198299704	198299704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaccgcttaccttcgtgaGtcttggcgatcttcgccatt	9	12	2	2	rs190499887		TCGA-E8-A433-01A-11D-A23M-08	TCGA-E8-A433-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54f7b709-1f2d-4424-9180-cb52ecd97676	a9dad2a0-43d5-4c1d-932d-460d6753a72d	g.chr2:198299704G>A	ENST00000335508.6	-	1	111	c.20C>T	c.(19-21)aCt>aTt	p.T7I	SF3B1_ENST00000487698.1_Missense_Mutation_p.T7I|SF3B1_ENST00000409915.4_Missense_Mutation_p.T7I|SF3B1_ENST00000414963.2_Missense_Mutation_p.T7I	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	7					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ACCTTCGTGAGTCTTGGCGAT	0.493			Mis		myelodysplastic syndrome								G|||	1	0.000199681	0	0	5008	,	,		18731	0		0.001	False		,,,				2504	0					ENST00000335508.5				Dom	yes		2	2q33.1	23451	Mis	"splicing factor 3b, subunit 1, 155kDa"			L			myelodysplastic syndrome		0				NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(19-21)aCt>aTt		splicing factor 3b, subunit 1, 155kDa							118	98	105					2																	198299704		2203	4300	6503	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198299704G>A	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"splicing factor 3b, subunit 1, 155kD"			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.20C>T	2.37:g.198299704G>A	ENSP00000335321:p.Thr7Ile					SF3B1_ENST00000414963.2_Missense_Mutation_p.T7I|SF3B1_ENST00000409915.4_Missense_Mutation_p.T7I|SF3B1_ENST00000487698.1_Missense_Mutation_p.T7I	p.T7I	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		1	111	-			7					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.20C>T	CCDS33356.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	17.27	3.346124	0.61073	.	.	ENSG00000115524	ENST00000335508;ENST00000409915;ENST00000414963;ENST00000487698	.	.	.	4.95	4.95	0.65309	.	0.115076	0.64402	D	0.000016	T	0.63604	0.2525	M	0.71581	2.175	0.80722	D	1	B;B;P	0.52577	0.004;0.001;0.954	B;B;P	0.47206	0.004;0.0;0.541	T	0.69907	-0.5018	9	0.72032	D	0.01	.	15.0443	0.71816	0.0:0.0:1.0:0.0	.	7;7;7	B4DGZ4;E9PCH3;O75533	.;.;SF3B1_HUMAN	I	7	.	ENSP00000335321:T7I	T	-	2	0	SF3B1	198007949	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.359000	0.59449	2.588000	0.87417	0.561000	0.74099	ACT		0.493	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			23	51	0	0	0	1	0	23	51					A	198299704	G	A	198299704	3	1	184	1	0	0	0	0	1	0	0	0	14149	1029	36	2	4018	2	SF3B1	2	198299704	Missense_Mutation	SNP	G	TCGA-E8-A433-01A-11D-A23M-08	100509460	198299704	44899669	3	3878											
PCDHA6	56142	broad.mit.edu	37	chr5	140208982	140208982	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acgggggctcgccttcgctgTgggccaccgccagcttgtct	14	15	1	0			TCGA-E8-A433-01A-11D-A23M-08	TCGA-E8-A433-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54f7b709-1f2d-4424-9180-cb52ecd97676	a9dad2a0-43d5-4c1d-932d-460d6753a72d	g.chr5:140208982T>A	ENST00000529310.1	+	1	1420	c.1306T>A	c.(1306-1308)Tgg>Agg	p.W436R	PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.W436R	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	436	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTTCGCTGTGGGCCACCGC	0.622																																						ENST00000529310.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1306-1308)Tgg>Agg									58	69	65					5																	140208982		2202	4300	6502	SO:0001583	missense	0							g.chr5:140208982T>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	8672	other	complex locus constituent	"KIAA0345-like 8"	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1306T>A	5.37:g.140208982T>A	ENSP00000433378:p.Trp436Arg					PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.W436R|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.W436R	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1420	+								O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.1306T>A	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	T	0.161	-1.080851	0.01888	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.01647	4.71;4.71	3.7	2.53	0.30540	Cadherin (5);Cadherin-like (1);	0.861175	0.09460	U	0.799182	T	0.00724	0.0024	N	0.00602	-1.34	0.09310	N	1	B;B;B	0.14438	0.006;0.007;0.01	B;B;B	0.19666	0.026;0.026;0.017	T	0.48103	-0.9064	10	0.24483	T	0.36	.	5.0487	0.14497	0.0:0.1793:0.1565:0.6642	.	436;436;436	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	R	436	ENSP00000433378:W436R;ENSP00000434113:W436R	ENSP00000434113:W436R	W	+	1	0	PCDHA6	140189166	0.729000	0.28090	0.945000	0.38365	0.173000	0.22820	3.123000	0.50453	0.599000	0.29845	0.260000	0.18958	TGG		0.622	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		79	123	0	0	0	1	0	79	123					A	140208982	T	A	140208982	3	1	184	1	0	0	0	0	1	0	0	0	11528	1696	59	5	1308	5	PCDHA6	5	140208982	Missense_Mutation	SNP	T	TCGA-E8-A433-01A-11D-A23M-08		140208982	40706278	4	3879											
UNC5A	90249	broad.mit.edu	37	chr5	176301124	176301124	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtccattctcacctcaggcTtccagcccgtcagcatcaag	7	17	4	0			TCGA-E8-A433-01A-11D-A23M-08	TCGA-E8-A433-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54f7b709-1f2d-4424-9180-cb52ecd97676	a9dad2a0-43d5-4c1d-932d-460d6753a72d	g.chr5:176301124T>C	ENST00000329542.4	+	7	1316	c.1042T>C	c.(1042-1044)Ttc>Ctc	p.F348L	UNC5A_ENST00000261961.3_Missense_Mutation_p.F308L	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	348					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACCTCAGGCTTCCAGCCCGT	0.637																																						ENST00000329542.4																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34						c.(1042-1044)Ttc>Ctc		unc-5 homolog A (C. elegans)							92	83	86					5																	176301124		2203	4300	6503	SO:0001583	missense	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176301124T>C	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"Immunoglobulin superfamily / I-set domain containing"	12567	protein-coding gene	gene with protein product		607869	"unc5 (C.elegans homolog) a"				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.1042T>C	5.37:g.176301124T>C	ENSP00000332737:p.Phe348Leu					UNC5A_ENST00000261961.3_Missense_Mutation_p.F308L	p.F348L	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	1316	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	348					B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP	ENST00000329542.4	37	c.1042T>C	CCDS34299.1	.	.	.	.	.	.	.	.	.	.	T	33	5.251952	0.95336	.	.	ENSG00000113763	ENST00000329542;ENST00000261961	T;T	0.57752	0.38;0.76	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.71837	0.3387	M	0.72894	2.215	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.75563	-0.3274	10	0.87932	D	0	-29.5435	15.5338	0.75986	0.0:0.0:0.0:1.0	.	308;348	Q6ZN44-3;Q6ZN44	.;UNC5A_HUMAN	L	348;308	ENSP00000332737:F348L;ENSP00000261961:F308L	ENSP00000261961:F308L	F	+	1	0	UNC5A	176233730	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.911000	0.69939	2.087000	0.62958	0.397000	0.26171	TTC		0.637	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		3	51	0	0	0	1	0	3	51					C	176301124	T	C	176301124	3	2	184	1	0	0	0	0	1	0	0	0	16988	1609	56	3	1068	3	UNC5A	5	176301124	Missense_Mutation	SNP	T	TCGA-E8-A433-01A-11D-A23M-08	36092142	176301124	4614136	5	3880											
TFAP2B	7021	broad.mit.edu	37	chr6	50796357	50796357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagatgccaataacagcgGcatgaatctattggaccagt	10	8	1	3			TCGA-E8-A433-01A-11D-A23M-08	TCGA-E8-A433-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54f7b709-1f2d-4424-9180-cb52ecd97676	a9dad2a0-43d5-4c1d-932d-460d6753a72d	g.chr6:50796357G>A	ENST00000393655.3	+	3	735	c.566G>A	c.(565-567)gGc>gAc	p.G189D	TFAP2B_ENST00000263046.4_Missense_Mutation_p.G198D	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	189					aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|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 neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|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 coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AATAACAGCGGCATGAATCTA	0.333																																					Pancreas(116;1373 2332 5475 10752)	ENST00000263046.4																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40						c.(592-594)gGc>gAc		transcription factor AP-2 beta (activating enhancer binding protein 2 beta)							120	119	119					6																	50796357		2203	4300	6503	SO:0001583	missense	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50796357G>A	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.566G>A	6.37:g.50796357G>A	ENSP00000377265:p.Gly189Asp					TFAP2B_ENST00000393655.3_Missense_Mutation_p.G189D	p.G198D			Q92481	AP2B_HUMAN			4	759	+	Lung NSC(77;0.156)		189					Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	ENST00000393655.3	37	c.593G>A	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	G	13.90	2.376479	0.42105	.	.	ENSG00000008196	ENST00000393655;ENST00000344788;ENST00000263046	D;D;D	0.86497	-2.13;-2.13;-2.13	5.68	5.68	0.88126	.	0.102832	0.64402	D	0.000003	T	0.77791	0.4183	L	0.29908	0.895	0.58432	D	0.999999	P	0.34780	0.468	B	0.39503	0.301	T	0.79843	-0.1632	10	0.48119	T	0.1	-16.3539	15.2974	0.73919	0.0:0.1395:0.8605:0.0	.	189	Q92481	AP2B_HUMAN	D	189;187;198	ENSP00000377265:G189D;ENSP00000342252:G187D;ENSP00000263046:G198D	ENSP00000263046:G198D	G	+	2	0	TFAP2B	50904316	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.975000	0.63777	2.689000	0.91719	0.655000	0.94253	GGC		0.333	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		5	111	0	0	0	1	0	5	111					A	50796357	G	A	50796357	3	1	184	1	0	0	0	0	1	0	0	0	15785	1203	42	2	576	2	TFAP2B	6	50796357	Missense_Mutation	SNP	G	TCGA-E8-A433-01A-11D-A23M-08		50796357	120318710	6	3881											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E8-A433-01A-11D-A23M-08	TCGA-E8-A433-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54f7b709-1f2d-4424-9180-cb52ecd97676	a9dad2a0-43d5-4c1d-932d-460d6753a72d	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		43	75	0	0	0	1	0	43	75					T	140453136	A	T	140453136	3	4	184	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E8-A433-01A-11D-A23M-08		140453136	18685527	7	3882											
LYN	4067	broad.mit.edu	37	chr8	56866442	56866442	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcttgtattagtcccaAgccacagaagccatgggata	11	9	0	1			TCGA-E8-A433-01A-11D-A23M-08	TCGA-E8-A433-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54f7b709-1f2d-4424-9180-cb52ecd97676	a9dad2a0-43d5-4c1d-932d-460d6753a72d	g.chr8:56866442A>G	ENST00000519728.1	+	8	985	c.689A>G	c.(688-690)aAg>aGg	p.K230R	LYN_ENST00000520220.2_Missense_Mutation_p.K209R	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	230					B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	ATTAGTCCCAAGCCACAGAAG	0.478																																						ENST00000520220.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(625-627)aAg>aGg		v-yes-1 Yamaguchi sarcoma viral related oncogene homolog							76	79	78					8																	56866442		2203	4300	6503	SO:0001583	missense	4067				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	g.chr8:56866442A>G	M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"SH2 domain containing"	6735	protein-coding gene	gene with protein product		165120	"v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.689A>G	8.37:g.56866442A>G	ENSP00000428924:p.Lys230Arg					LYN_ENST00000519728.1_Missense_Mutation_p.K230R	p.K209R	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	Epithelial(17;0.000834)|all cancers(17;0.00598)		8	900	+		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	230			SH2.		A0AVQ5	Missense_Mutation	SNP	ENST00000519728.1	37	c.626A>G	CCDS6162.1	.	.	.	.	.	.	.	.	.	.	A	17.51	3.407557	0.62399	.	.	ENSG00000254087	ENST00000519728;ENST00000520220	T;T	0.74526	-0.82;-0.85	5.08	5.08	0.68730	Protein kinase-like domain (1);SH2 motif (1);	0.084306	0.85682	D	0.000000	T	0.65678	0.2714	L	0.33293	1	0.58432	D	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.62760	-0.6786	10	0.49607	T	0.09	.	15.1358	0.72566	1.0:0.0:0.0:0.0	.	300;230	Q6NUK7;P07948	.;LYN_HUMAN	R	230;209	ENSP00000428924:K230R;ENSP00000428424:K209R	ENSP00000428924:K230R	K	+	2	0	LYN	57028996	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	6.191000	0.72063	2.049000	0.60858	0.528000	0.53228	AAG		0.478	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350		28	48	0	0	0	1	0	28	48					G	56866442	A	G	56866442	3	3	184	1	0	0	0	0	1	0	0	0	9107	72	3	3	715	3	LYN	8	56866442	Missense_Mutation	SNP	A	TCGA-E8-A433-01A-11D-A23M-08		56866442	89497580	8	3883											
ADAM12	8038	broad.mit.edu	37	chr10	127843851	127843851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgcagatagtgggtttccGtgaaactgctggcaatgaga	13	7	0	3			TCGA-E8-A433-01A-11D-A23M-08	TCGA-E8-A433-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54f7b709-1f2d-4424-9180-cb52ecd97676	a9dad2a0-43d5-4c1d-932d-460d6753a72d	g.chr10:127843851G>A	ENST00000368679.4	-	4	593	c.284C>T	c.(283-285)aCg>aTg	p.T95M	ADAM12_ENST00000368676.4_Missense_Mutation_p.T95M	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	95					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GTGGGTTTCCGTGAAACTGCT	0.433																																						ENST00000368679.4																			0				biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(283-285)aCg>aTg		ADAM metallopeptidase domain 12							150	142	145					10																	127843851		2203	4300	6503	SO:0001583	missense	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127843851G>A	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"ADAM metallopeptidase domain containing"	190	protein-coding gene	gene with protein product	"meltrin alpha"	602714	"a disintegrin and metalloproteinase domain 12 (meltrin alpha)"			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.284C>T	10.37:g.127843851G>A	ENSP00000357668:p.Thr95Met					ADAM12_ENST00000368676.4_Missense_Mutation_p.T95M	p.T95M	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	4	593	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	95					O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	c.284C>T	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964831	0.74131	.	.	ENSG00000148848	ENST00000368679;ENST00000368676;ENST00000448723	T;T;T	0.07021	3.23;3.23;3.23	4.66	4.66	0.58398	Peptidase M12B, propeptide (1);	0.306104	0.28796	N	0.014108	T	0.23094	0.0558	L	0.54323	1.7	0.44142	D	0.996935	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.997;0.999	D;D;D;P;D	0.78314	0.991;0.985;0.985;0.899;0.933	T	0.00129	-1.2016	10	0.66056	D	0.02	.	13.2681	0.60146	0.0:0.0:1.0:0.0	.	95;95;95;95;95	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	M	95	ENSP00000357668:T95M;ENSP00000357665:T95M;ENSP00000391268:T95M	ENSP00000357665:T95M	T	-	2	0	ADAM12	127833841	0.997000	0.39634	0.975000	0.42487	0.987000	0.75469	3.160000	0.50739	2.565000	0.86533	0.655000	0.94253	ACG		0.433	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			46	84	0	0	0	1	0	46	84					A	127843851	G	A	127843851	3	1	184	1	0	0	0	0	1	0	0	0	236	1145	40	1	2633	1	ADAM12	10	127843851	Missense_Mutation	SNP	G	TCGA-E8-A433-01A-11D-A23M-08		127843851	7690896	9	3884											
MMP13	4322	broad.mit.edu	37	chr11	102819790	102819790	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaggtcatgagaagggtgctCatatgcagcatcaatacggt	13	7	3	1			TCGA-E8-A433-01A-11D-A23M-08	TCGA-E8-A433-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54f7b709-1f2d-4424-9180-cb52ecd97676	a9dad2a0-43d5-4c1d-932d-460d6753a72d	g.chr11:102819790C>T	ENST00000260302.3	-	7	1043	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K	MMP13_ENST00000340273.4_Missense_Mutation_p.E339K	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	339	Interaction with collagen.				bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	GAAGGGTGCTCATATGCAGCA	0.488																																						ENST00000260302.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27						c.(1015-1017)Gag>Aag		matrix metallopeptidase 13 (collagenase 3)							157	138	144					11																	102819790		2202	4299	6501	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102819790C>T	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"Endogenous ligands"	7159	protein-coding gene	gene with protein product	"collagenase 3"	600108	"matrix metalloproteinase 13 (collagenase 3)"			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.1015G>A	11.37:g.102819790C>T	ENSP00000260302:p.Glu339Lys					MMP13_ENST00000340273.4_Missense_Mutation_p.E339K	p.E339K	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	7	1043	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	339			Hemopexin-like 2.		A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.1015G>A	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104376	0.76983	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.03004	4.08;4.08	5.4	5.4	0.78164	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.32734	0.0839	H	0.97131	3.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.52801	-0.8527	10	0.87932	D	0	.	19.5301	0.95225	0.0:1.0:0.0:0.0	.	339	P45452	MMP13_HUMAN	K	339	ENSP00000260302:E339K;ENSP00000339672:E339K	ENSP00000260302:E339K	E	-	1	0	MMP13	102325000	1.000000	0.71417	0.895000	0.35142	0.061000	0.15899	7.445000	0.80570	2.706000	0.92434	0.484000	0.47621	GAG		0.488	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		25	66	0	0	0	1	0	25	66					T	102819790	C	T	102819790	3	4	184	1	0	0	0	0	1	0	0	0	9652	835	29	2	416	2	MMP13	11	102819790	Missense_Mutation	SNP	C	TCGA-E8-A433-01A-11D-A23M-08		102819790	32186726	10	3885											
SIAE	54414	broad.mit.edu	37	chr11	124539274	124539274	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctttcacactggtcacttTcttcatgatggtttcctgac	6	12	4	2			TCGA-E8-A433-01A-11D-A23M-08	TCGA-E8-A433-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54f7b709-1f2d-4424-9180-cb52ecd97676	a9dad2a0-43d5-4c1d-932d-460d6753a72d	g.chr11:124539274T>C	ENST00000263593.3	-	2	383	c.211A>G	c.(211-213)Aaa>Gaa	p.K71E	SIAE_ENST00000525730.1_5'Flank|SIAE_ENST00000545756.1_Missense_Mutation_p.K36E			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	71			K -> R (in dbSNP:rs12282107). {ECO:0000269|PubMed:20555325}.		carbohydrate metabolic process (GO:0005975)|regulation of immune system process (GO:0002682)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	sialate O-acetylesterase activity (GO:0001681)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		CTGGTCACTTTCTTCATGATG	0.532											OREG0021460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263593.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15						c.(211-213)Aaa>Gaa		sialic acid acetylesterase							240	189	206					11																	124539274		2201	4299	6500	SO:0001583	missense	54414					extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity	g.chr11:124539274T>C	AF300796	CCDS8449.1, CCDS55795.1	11q24	2005-12-15	2005-12-15	2005-12-15		ENSG00000110013			18187	protein-coding gene	gene with protein product	"sialic acid-specific acetylesterase II"	610079	"Ysg2 homolog (mouse)"	YSG2		10464298	Standard	NM_001199922		Approved	CSE-C, MGC87009, LSE	uc001qan.3	Q9HAT2		ENST00000263593.3:c.211A>G	11.37:g.124539274T>C	ENSP00000263593:p.Lys71Glu		OREG0021460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1535	SIAE_ENST00000545756.1_Missense_Mutation_p.K36E	p.K71E			Q9HAT2	SIAE_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)	2	383	-	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	71		K -> R (in dbSNP:rs12282107).			B3KPB0|Q8IUT9|Q9HAU7|Q9NT71	Missense_Mutation	SNP	ENST00000263593.3	37	c.211A>G	CCDS8449.1	.	.	.	.	.	.	.	.	.	.	T	9.206	1.029636	0.19512	.	.	ENSG00000110013	ENST00000263593;ENST00000545756	D;D	0.84070	-1.8;-1.77	5.4	5.4	0.78164	.	0.312791	0.34531	N	0.003890	T	0.76198	0.3954	L	0.46885	1.475	0.38333	D	0.94384	B;B	0.20671	0.047;0.012	B;B	0.22386	0.039;0.017	T	0.72414	-0.4301	10	0.27785	T	0.31	.	9.4881	0.38942	0.0:0.0817:0.0:0.9183	.	36;71	Q9HAT2-2;Q9HAT2	.;SIAE_HUMAN	E	71;36	ENSP00000263593:K71E;ENSP00000437877:K36E	ENSP00000263593:K71E	K	-	1	0	SIAE	124044484	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.332000	0.52083	2.271000	0.75665	0.533000	0.62120	AAA		0.532	SIAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387070.1	NM_170601		39	64	0	0	0	1	0	39	64					C	124539274	T	C	124539274	3	2	184	1	0	0	0	0	1	0	0	0	14298	1792	62	3	1396	3	SIAE	11	124539274	Missense_Mutation	SNP	T	TCGA-E8-A433-01A-11D-A23M-08	21719484	124539274	10467242	11	3886											
LRRK2	120892	broad.mit.edu	37	chr12	40702485	40702485	+	Frame_Shift_Del	DEL	G	G	-													agagatctcgtcctaaatgtGtgggattttgcaggtatttc							TCGA-E8-A433-01A-11D-A23M-08	TCGA-E8-A433-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54f7b709-1f2d-4424-9180-cb52ecd97676	a9dad2a0-43d5-4c1d-932d-460d6753a72d	g.chr12:40702485delG	ENST00000298910.7	+	29	4234	c.4176delG	c.(4174-4176)gtgfs	p.V1392fs		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1392	Roc. {ECO:0000255|PROSITE- ProRule:PRU00758}.				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)				TCCTAAATGTGTGGGATTTTG	0.358																																						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.(4174-4176)gtfs		leucine-rich repeat kinase 2							68	66	67					12																	40702485		2203	4300	6503	SO:0001589	frameshift_variant	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.chr12:40702485delG	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.4176delG	12.37:g.40702485delG	ENSP00000298910:p.Val1392fs						p.V1392fs	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			29	4234	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1392			Roc.		A6NJU2|Q6ZS50|Q8NCX9	Frame_Shift_Del	DEL	ENST00000298910.7	37	c.4176delG	CCDS31774.1																																																																																				0.358	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		19	55						19	55	---	---	---	---	-	40702485	G	-	40702485	7	5	184	1	0	1	0	1	0	0	0	0	9033	1364	48	0	4290	0	LRRK2	12	40702485	Frame_Shift_Del	DEL	G	TCGA-E8-A433-01A-11D-A23M-08		40702485	93149410	12	3887											
TAOK2	9344	broad.mit.edu	37	chr16	29990601	29990601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgtccatcatggcacctGccaactccttcgtgggcacc	9	17	1	0			TCGA-E8-A433-01A-11D-A23M-08	TCGA-E8-A433-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54f7b709-1f2d-4424-9180-cb52ecd97676	a9dad2a0-43d5-4c1d-932d-460d6753a72d	g.chr16:29990601G>A	ENST00000308893.4	+	7	1578	c.535G>A	c.(535-537)Gcc>Acc	p.A179T	TAOK2_ENST00000279394.3_Missense_Mutation_p.A179T|TAOK2_ENST00000543033.1_Missense_Mutation_p.A179T|TAOK2_ENST00000416441.2_5'Flank	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	179	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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						CATGGCACCTGCCAACTCCTT	0.577																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(535-537)Gcc>Acc		TAO kinase 2							164	157	159					16																	29990601		2197	4300	6497	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.chr16:29990601G>A	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.535G>A	16.37:g.29990601G>A	ENSP00000310094:p.Ala179Thr					TAOK2_ENST00000279394.3_Missense_Mutation_p.A179T|TAOK2_ENST00000543033.1_Missense_Mutation_p.A179T	p.A179T	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			7	1578	+			179			Protein kinase.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.535G>A	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.891511	0.91889	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.65364	-0.15;-0.15;-0.15	5.77	5.77	0.91146	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	0.85682	D	0.000000	T	0.69351	0.3101	L	0.28608	0.87	0.80722	D	1	D;D;D;D	0.71674	0.995;0.997;0.998;0.994	D;D;D;D	0.67548	0.938;0.94;0.952;0.911	T	0.65697	-0.6105	9	.	.	.	.	18.7641	0.91865	0.0:0.0:1.0:0.0	.	363;179;179;179	Q86V37;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;TAOK2_HUMAN	T	179	ENSP00000310094:A179T;ENSP00000440336:A179T;ENSP00000279394:A179T	.	A	+	1	0	TAOK2	29898102	1.000000	0.71417	0.991000	0.47740	0.832000	0.47134	8.022000	0.88759	2.729000	0.93468	0.467000	0.42956	GCC		0.577	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		4	116	0	0	0	1	0	4	116					A	29990601	G	A	29990601	3	1	184	1	0	0	0	0	1	0	0	0	15545	1319	46	2	557	2	TAOK2	16	29990601	Missense_Mutation	SNP	G	TCGA-E8-A433-01A-11D-A23M-08		29990601	60364152	13	3888											
RARA	5914	broad.mit.edu	37	chr17	38508725	38508726	+	Frame_Shift_Ins	INS	-	-	A													ctcaccatcgccgaccagatINScaccctcctcaaggctgcct							TCGA-E8-A433-01A-11D-A23M-08	TCGA-E8-A433-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54f7b709-1f2d-4424-9180-cb52ecd97676	a9dad2a0-43d5-4c1d-932d-460d6753a72d	g.chr17:38508725_38508726insA	ENST00000254066.5	+	6	1228_1229	c.773_774insA	c.(772-777)atcaccfs	p.T259fs	RARA_ENST00000425707.3_Frame_Shift_Ins_p.T162fs|RARA_ENST00000420042.1_3'UTR|RARA_ENST00000394089.2_Frame_Shift_Ins_p.T259fs|RARA_ENST00000394086.3_Frame_Shift_Ins_p.T275fs|RARA_ENST00000394081.3_Frame_Shift_Ins_p.T254fs	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	259	Ligand-binding.				apoptotic cell clearance (GO:0043277)|cellular response to estrogen stimulus (GO:0071391)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|chondroblast differentiation (GO:0060591)|embryonic camera-type eye development (GO:0031076)|face development (GO:0060324)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|intracellular estrogen receptor signaling pathway (GO:0030520)|limb development (GO:0060173)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translational initiation (GO:0045947)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of binding (GO:0051099)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein phosphorylation (GO:0006468)|regulation of myelination (GO:0031641)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|retinoic acid receptor signaling pathway (GO:0048384)|Sertoli cell fate commitment (GO:0060010)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin DNA binding (GO:0031490)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|mRNA 5'-UTR binding (GO:0048027)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein kinase A binding (GO:0051018)|protein kinase B binding (GO:0043422)|receptor binding (GO:0005102)|retinoic acid binding (GO:0001972)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)|zinc ion binding (GO:0008270)			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GCCGACCAGATCACCCTCCTCA	0.604			T	"PML, ZNF145, TIF1, NUMA1, NPM1"	APL																																	ENST00000254066.5				Dom	yes		17	17q12	5914	T	"retinoic acid receptor, alpha"			L	"PML, ZNF145, TIF1, NUMA1, NPM1"		APL		0				breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16						c.(772-774)aacfs		retinoic acid receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)																																			SO:0001589	frameshift_variant	0				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr17:38508725_38508726insA	X06538	CCDS11366.1, CCDS42317.1, CCDS45671.1	17q21.1	2014-01-20			ENSG00000131759	ENSG00000131759		"Nuclear hormone receptors"	9864	protein-coding gene	gene with protein product		180240				2825036, 8244378	Standard	NM_001145301		Approved	RAR, NR1B1	uc002huk.2	P10276	OTTHUMG00000133328	Exception_encountered	17.37:g.38508725_38508726insA	ENSP00000254066:p.Thr259fs					RARA_ENST00000394086.3_Frame_Shift_Ins_p.N274fs|RARA_ENST00000394089.2_Frame_Shift_Ins_p.N258fs|RARA_ENST00000420042.1_3'UTR|RARA_ENST00000425707.3_Frame_Shift_Ins_p.N161fs|RARA_ENST00000394081.3_Frame_Shift_Ins_p.N253fs	p.N258fs	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	STAD - Stomach adenocarcinoma(5;0.00143)		6	1228_1229	+		Breast(137;0.00328)	258			Ligand-binding.		B8Y636|P78456|Q13440|Q13441|Q96S41|Q9NQS0	Frame_Shift_Ins	INS	ENST00000254066.5	37	c.773_774insA	CCDS11366.1																																																																																				0.604	RARA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257136.2			17	39						17	39	---	---	---	---	A	38508726	-	A	38508725	7	5	184	1	0	1	1	0	0	0	0	0	13052	1435	50	0	958	0	RARA	17	38508725	Frame_Shift_Ins	INS	-	TCGA-E8-A433-01A-11D-A23M-08		38508725	42686485	14	3889											
SNRNP70	6625	broad.mit.edu	37	chr19	49610890	49610890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctgccccaggaggaggcCtcggtggtaccagaagagga	16	12	0	2			TCGA-E8-A433-01A-11D-A23M-08	TCGA-E8-A433-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54f7b709-1f2d-4424-9180-cb52ecd97676	a9dad2a0-43d5-4c1d-932d-460d6753a72d	g.chr19:49610890C>T	ENST00000598441.1	+	9	810	c.586C>T	c.(586-588)Ctc>Ttc	p.L196F	SNRNP70_ENST00000221448.5_Missense_Mutation_p.L196F			P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	196					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						AGGAGGAGGCCTCGGTGGTAC	0.622																																						ENST00000221448.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						c.(586-588)Ctc>Ttc		small nuclear ribonucleoprotein 70kDa (U1)							59	61	60					19																	49610890		2203	4300	6503	SO:0001583	missense	6625				nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr19:49610890C>T		CCDS12756.1, CCDS74417.1	19q13.3	2013-02-12	2008-10-29	2008-10-29		ENSG00000104852		"RNA binding motif (RRM) containing"	11150	protein-coding gene	gene with protein product		180740	"small nuclear ribonucleoprotein 70kDa (RNP antigen)"	RNPU1Z, RPU1, SNRP70			Standard	XM_005259177		Approved	U1-70K, Snp1	uc021uxh.1	P08621		ENST00000598441.1:c.586C>T	19.37:g.49610890C>T	ENSP00000472998:p.Leu196Phe					SNRNP70_ENST00000598441.1_Missense_Mutation_p.L196F	p.L196F	NM_003089.4	NP_003080.2	P08621	RU17_HUMAN			9	782	+			196					B3KUA3|P78493|P78494|Q15364|Q15686|Q15687|Q15689|Q99377|Q9UE45|Q9UE46|Q9UE47|Q9UE48|Q9UFQ6	Missense_Mutation	SNP	ENST00000598441.1	37	c.586C>T	CCDS12756.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058809	0.55325	.	.	ENSG00000104852	ENST00000221448;ENST00000544278	T	0.74737	-0.87	4.24	4.24	0.50183	Nucleotide-binding, alpha-beta plait (1);	0.153192	0.43747	D	0.000524	T	0.81955	0.4932	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.994	D	0.84474	0.0601	10	0.87932	D	0	-10.5264	15.7987	0.78433	0.0:1.0:0.0:0.0	.	196;196	P08621;P08621-2	RU17_HUMAN;.	F	196;100	ENSP00000221448:L196F	ENSP00000221448:L196F	L	+	1	0	SNRNP70	54302702	1.000000	0.71417	0.987000	0.45799	0.590000	0.36582	1.686000	0.37669	2.095000	0.63458	0.462000	0.41574	CTC		0.622	SNRNP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466266.1	NM_003089		24	46	0	0	0	1	0	24	46					T	49610890	C	T	49610890	3	4	184	1	0	0	0	0	1	0	0	0	14858	681	24	2	616	2	SNRNP70	19	49610890	Missense_Mutation	SNP	C	TCGA-E8-A433-01A-11D-A23M-08		49610890	9518093	15	3890											
SLC26A9	115019	broad.mit.edu	37	chr1	205888065	205888065	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacgtgcttgcattctagaCtcccatcctcaaagacgcct	7	14	2	3	rs371716247		TCGA-E8-A434-01A-11D-A23M-08	TCGA-E8-A434-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3e7e827-91b5-4aa7-ae53-c2e5a8026386	8e990c86-db84-4b6e-9b12-40a7dcf45912	g.chr1:205888065C>T	ENST00000367135.3	-	19	2272	c.2159G>A	c.(2158-2160)aGt>aAt	p.S720N	SLC26A9_ENST00000340781.4_Missense_Mutation_p.S720N|SLC26A9_ENST00000367134.2_Missense_Mutation_p.S720N	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	720	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GCATTCTAGACTCCCATCCTC	0.493											OREG0014164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367135.3																			0				NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52						c.(2158-2160)aGt>aAt		solute carrier family 26 (anion exchanger), member 9		C	ASN/SER,ASN/SER	0,4406		0,0,2203	323	311	315		2159,2159	4.2	1.0	1		315	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SLC26A9	NM_052934.3,NM_134325.2	46,46	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	720/792,720/888	205888065	1,13005	2203	4300	6503	SO:0001583	missense	115019					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205888065C>T	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"Solute carriers"	14469	protein-coding gene	gene with protein product	"anion transporter/exchanger-9"	608481	"solute carrier family 26, member 9"			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.2159G>A	1.37:g.205888065C>T	ENSP00000356103:p.Ser720Asn		OREG0014164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2155	SLC26A9_ENST00000367134.2_Missense_Mutation_p.S720N|SLC26A9_ENST00000340781.4_Missense_Mutation_p.S720N	p.S720N	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		19	2272	-	Breast(84;0.201)		720			STAS.		A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	ENST00000367135.3	37	c.2159G>A	CCDS30990.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.257190	0.39896	0.0	1.16E-4	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	T;T;T	0.60040	0.22;0.22;0.22	5.2	4.23	0.50019	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.549727	0.19704	N	0.107977	T	0.47021	0.1423	L	0.34521	1.04	0.26020	N	0.981876	B;B	0.09022	0.0;0.002	B;B	0.06405	0.001;0.002	T	0.26849	-1.0091	10	0.27785	T	0.31	.	16.0341	0.80608	0.0:0.8659:0.1341:0.0	.	720;720	Q7LBE3;B1AVM8	S26A9_HUMAN;.	N	720	ENSP00000341682:S720N;ENSP00000356103:S720N;ENSP00000356102:S720N	ENSP00000341682:S720N	S	-	2	0	SLC26A9	204154688	0.975000	0.34042	1.000000	0.80357	0.974000	0.67602	2.094000	0.41719	2.584000	0.87258	0.563000	0.77884	AGT		0.493	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		7	269	0	0	0	1	0	7	269					T	205888065	C	T	205888065	3	4	185	1	0	0	0	0	1	0	0	0	14524	565	20	2	524	2	SLC26A9	1	205888065	Missense_Mutation	SNP	C	TCGA-E8-A434-01A-11D-A23M-08		205888065	43362556	1	3891											
SDC1	6382	broad.mit.edu	37	chr2	20402576	20402576	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttctggtaggccccgccgTtggcttgtttcggctcctcc	12	15	1	0			TCGA-E8-A434-01A-11D-A23M-08	TCGA-E8-A434-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3e7e827-91b5-4aa7-ae53-c2e5a8026386	8e990c86-db84-4b6e-9b12-40a7dcf45912	g.chr2:20402576T>C	ENST00000254351.4	-	5	1128	c.884A>G	c.(883-885)aAc>aGc	p.N295S	SDC1_ENST00000381150.1_Missense_Mutation_p.N295S|SDC1_ENST00000482879.1_Intron|SDC1_ENST00000403076.1_Intron	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1	295					canonical Wnt signaling pathway (GO:0060070)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|myoblast development (GO:0048627)|odontogenesis (GO:0042476)|phototransduction, visible light (GO:0007603)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to toxic substance (GO:0009636)|retinoid metabolic process (GO:0001523)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|striated muscle cell development (GO:0055002)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		GGCCCCGCCGTTGGCTTGTTT	0.607																																						ENST00000381150.1																			0				NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21						c.(883-885)aAc>aGc		syndecan 1							115	115	115					2																	20402576		2203	4300	6503	SO:0001583	missense	6382				lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding	g.chr2:20402576T>C	AJ551176	CCDS1697.1	2p24.1	2008-02-05			ENSG00000115884	ENSG00000115884		"CD molecules", "Proteoglycans / Cell Surface : Syndecans"	10658	protein-coding gene	gene with protein product	"syndecan proteoglycan 1"	186355		SDC			Standard	XM_005262621		Approved	CD138, syndecan, SYND1	uc002rdo.1	P18827	OTTHUMG00000090751	ENST00000254351.4:c.884A>G	2.37:g.20402576T>C	ENSP00000254351:p.Asn295Ser					SDC1_ENST00000403076.1_Intron|SDC1_ENST00000482879.1_Intron|SDC1_ENST00000254351.4_Missense_Mutation_p.N295S	p.N295S	NM_001006946.1	NP_001006947.1	P18827	SDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.221)	6	1274	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		295					D6W523|Q53QV0|Q546D3|Q96HB7	Missense_Mutation	SNP	ENST00000254351.4	37	c.884A>G	CCDS1697.1	.	.	.	.	.	.	.	.	.	.	T	18.69	3.677943	0.68042	.	.	ENSG00000115884	ENST00000254351;ENST00000381150	T;T	0.18502	2.21;2.21	4.89	4.89	0.63831	.	0.112995	0.38111	N	0.001814	T	0.35128	0.0921	L	0.60455	1.87	0.34335	D	0.688097	D	0.61697	0.99	D	0.64410	0.925	T	0.51888	-0.8648	10	0.87932	D	0	-24.525	12.7722	0.57427	0.0:0.0:0.0:1.0	.	295	P18827	SDC1_HUMAN	S	295	ENSP00000254351:N295S;ENSP00000370542:N295S	ENSP00000254351:N295S	N	-	2	0	SDC1	20266057	1.000000	0.71417	0.966000	0.40874	0.709000	0.40893	3.438000	0.52871	1.961000	0.56991	0.459000	0.35465	AAC		0.607	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207495.1	NM_001006946		39	101	0	0	0	1	0	39	101					C	20402576	T	C	20402576	3	2	185	1	0	0	0	0	1	0	0	0	13951	1725	60	3	52	3	SDC1	2	20402576	Missense_Mutation	SNP	T	TCGA-E8-A434-01A-11D-A23M-08		20402576	222796797	2	3892											
WHSC2	7469	broad.mit.edu	37	chr4	1986563	1986563	+	Frame_Shift_Del	DEL	G	G	-													gtctcggagctggggatgtaGgaggaggcgggaaccacgct							TCGA-E8-A434-01A-11D-A23M-08	TCGA-E8-A434-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3e7e827-91b5-4aa7-ae53-c2e5a8026386	8e990c86-db84-4b6e-9b12-40a7dcf45912	g.chr4:1986563delG	ENST00000411638.2	-	8	1023	c.1008delC	c.(1006-1008)tccfs	p.S336fs	NELFA_ENST00000382882.3_Frame_Shift_Del_p.S347fs|NELFA_ENST00000542778.1_Frame_Shift_Del_p.S201fs|MIR943_ENST00000401286.1_RNA	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	336					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)										TGGGGATGTAGGAGGAGGCGG	0.642																																						ENST00000382882.3																			0											c.(1039-1041)tcfs		negative elongation factor complex member A							65	62	63					4																	1986563		2186	4291	6477	SO:0001589	frameshift_variant	7469							g.chr4:1986563delG	AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"Wolf-Hirschhorn syndrome candidate 2"	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.1008delC	4.37:g.1986563delG	ENSP00000399165:p.Ser336fs					NELFA_ENST00000411638.1_Frame_Shift_Del_p.S336fs|NELFA_ENST00000542778.1_Frame_Shift_Del_p.S201fs	p.S347fs	NM_005663.4	NP_005654.3					8	2158	-								A2A2T1|O95392	Frame_Shift_Del	DEL	ENST00000411638.2	37	c.1041delC																																																																																					0.642	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473007.1	NM_005663		2	4						2	4	---	---	---	---	-	1986563	G	-	1986563	7	5	185	1	0	1	0	1	0	0	0	0	17361	987	35	0	594	0	WHSC2	4	1986563	Frame_Shift_Del	DEL	G	TCGA-E8-A434-01A-11D-A23M-08		1986563	189167713	3	3893											
FBXW7	55294	broad.mit.edu	37	chr4	153247321	153247321	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catgacccatcaaaacatgtAaacactggcctgtctcaata	5	12	2	1			TCGA-E8-A434-01A-11D-A23M-08	TCGA-E8-A434-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3e7e827-91b5-4aa7-ae53-c2e5a8026386	8e990c86-db84-4b6e-9b12-40a7dcf45912	g.chr4:153247321A>C	ENST00000281708.4	-	10	2710	c.1481T>G	c.(1480-1482)tTa>tGa	p.L494*	FBXW7_ENST00000263981.5_Nonsense_Mutation_p.L414*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.L318*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.L494*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.L376*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.L494*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	494					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)				CAAAACATGTAAACACTGGCC	0.433			"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.(1480-1482)tTa>tGa		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							139	130	133					4																	153247321		2203	4300	6503	SO:0001587	stop_gained	0				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.chr4:153247321A>C	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.1481T>G	4.37:g.153247321A>C	ENSP00000281708:p.Leu494*					FBXW7_ENST00000296555.5_Nonsense_Mutation_p.L376*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.L318*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.L494*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.L494*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.L414*	p.L494*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			10	2710	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	494					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Nonsense_Mutation	SNP	ENST00000281708.4	37	c.1481T>G	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.470013	0.84533	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	.	.	.	5.72	5.72	0.89469	.	0.209748	0.42294	D	0.000732	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.7782	16.2962	0.82776	1.0:0.0:0.0:0.0	.	.	.	.	X	494;376;414;318	.	ENSP00000263981:L414X	L	-	2	0	FBXW7	153466771	1.000000	0.71417	1.000000	0.80357	0.175000	0.22909	9.248000	0.95456	2.304000	0.77564	0.528000	0.53228	TTA		0.433	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			24	78	0	0	0	1	0	24	78					C	153247321	A	C	153247321	4	2	185	1	0	0	0	0	0	1	0	0	5769	372	13	5	654	5	FBXW7	4	153247321	Nonsense_Mutation	SNP	A	TCGA-E8-A434-01A-11D-A23M-08	151260758	153247321	37906955	4	3894											
GLRA3	8001	broad.mit.edu	37	chr4	175564959	175564959	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatcttgctgctgatgaataTcctcatgcctaagaatttta	6	8	2	3			TCGA-E8-A434-01A-11D-A23M-08	TCGA-E8-A434-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3e7e827-91b5-4aa7-ae53-c2e5a8026386	8e990c86-db84-4b6e-9b12-40a7dcf45912	g.chr4:175564959T>A	ENST00000274093.3	-	10	1875	c.1373A>T	c.(1372-1374)gAt>gTt	p.D458V	GLRA3_ENST00000340217.5_Missense_Mutation_p.D443V	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	458					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	CTGATGAATATCCTCATGCCT	0.388																																						ENST00000274093.3																			0				endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35						c.(1372-1374)gAt>gTt		glycine receptor, alpha 3	Glycine(DB00145)						98	107	104					4																	175564959		2203	4300	6503	SO:0001583	missense	8001				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chr4:175564959T>A	AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"Ligand-gated ion channels / Glycine receptors"	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.1373A>T	4.37:g.175564959T>A	ENSP00000274093:p.Asp458Val					GLRA3_ENST00000340217.5_Missense_Mutation_p.D443V	p.D458V	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	10	1875	-		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)	458					D3DP44|O75816|Q5D0E3	Missense_Mutation	SNP	ENST00000274093.3	37	c.1373A>T	CCDS3822.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.673926	0.88445	.	.	ENSG00000145451	ENST00000274093;ENST00000340217	D;D	0.83335	-1.71;-1.71	5.87	5.87	0.94306	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.88973	0.6583	L	0.49126	1.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89918	0.4057	10	0.87932	D	0	.	16.2567	0.82522	0.0:0.0:0.0:1.0	.	443;458	O75311-2;O75311	.;GLRA3_HUMAN	V	458;443	ENSP00000274093:D458V;ENSP00000345284:D443V	ENSP00000274093:D458V	D	-	2	0	GLRA3	175801534	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	8.040000	0.89188	2.242000	0.73789	0.482000	0.46254	GAT		0.388	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1			5	85	0	0	0	1	0	5	85					A	175564959	T	A	175564959	3	1	185	1	0	0	0	0	1	0	0	0	6456	1435	50	5	25	5	GLRA3	4	175564959	Missense_Mutation	SNP	T	TCGA-E8-A434-01A-11D-A23M-08	22317638	175564959	15589317	5	3895											
KIF4B	285643	broad.mit.edu	37	chr5	154394835	154394835	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atttgtaacctgcagcaactGattacccagttatcagatga	7	9	1	3			TCGA-E8-A434-01A-11D-A23M-08	TCGA-E8-A434-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3e7e827-91b5-4aa7-ae53-c2e5a8026386	8e990c86-db84-4b6e-9b12-40a7dcf45912	g.chr5:154394835G>T	ENST00000435029.4	+	1	1576	c.1416G>T	c.(1414-1416)ctG>ctT	p.L472L		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	472					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGCAGCAACTGATTACCCAGT	0.448																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(1414-1416)ctG>ctT		kinesin family member 4B							94	101	99					5																	154394835		2203	4300	6503	SO:0001819	synonymous_variant	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154394835G>T	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.1416G>T	5.37:g.154394835G>T							p.L472L	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	1576	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	472						Silent	SNP	ENST00000435029.4	37	c.1416G>T	CCDS47324.1																																																																																				0.448	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			16	58	1	0	9.16793e-09	1	1.03139e-08	16	58					T	154394835	G	T	154394835	2	4	185	1	0	0	0	0	0	0	0	1	8304	1277	45	4		4	KIF4B	5	154394835	Silent	SNP	G	TCGA-E8-A434-01A-11D-A23M-08		154394835	26520425	6	3896											
CCDC129	223075	broad.mit.edu	37	chr7	31592800	31592800	+	Splice_Site	DEL	G	G	-													agtctcaccatccccatgctGggtgagaaggactctcaggc							TCGA-E8-A434-01A-11D-A23M-08	TCGA-E8-A434-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3e7e827-91b5-4aa7-ae53-c2e5a8026386	8e990c86-db84-4b6e-9b12-40a7dcf45912	g.chr7:31592800delG	ENST00000407970.3	+	2	200	c.162delG	c.(160-162)ctg>ct	p.L54fs	CCDC129_ENST00000482748.1_Intron|CCDC129_ENST00000451887.2_Splice_Site_p.L80fs|CCDC129_ENST00000409210.1_5'Flank|CCDC129_ENST00000319386.3_Splice_Site_p.L54fs	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	54								p.L54L(2)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TCCCCATGCTGGGTGAGAAGG	0.552																																						ENST00000319386.3																			2	Substitution - coding silent(2)	p.L54L(2)	lung(2)	cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.e2+1		coiled-coil domain containing 129							44	35	38					7																	31592800		2202	4298	6500	SO:0001630	splice_region_variant	223075							g.chr7:31592800delG	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.163+1G>-	7.37:g.31592800delG						CCDC129_ENST00000407970.3_Splice_Site_p.L54_splice|CCDC129_ENST00000482748.1_Intron|CCDC129_ENST00000451887.2_Splice_Site_p.L80_splice	p.L54_splice			Q6ZRS4	CC129_HUMAN			2	1155	+			54					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Splice_Site	DEL	ENST00000407970.3	37	c.163_splice	CCDS5435.2																																																																																				0.552	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300	Frame_Shift_Del	2	4						2	4	---	---	---	---	-	31592800	G	-	31592800	8	5	185	1	0	1	0	1	0	0	1	0	2764	1362	47	0	164	0	CCDC129	7	31592800	Splice_Site	DEL	G	TCGA-E8-A434-01A-11D-A23M-08		31592800	127545863	7	3897											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E8-A434-01A-11D-A23M-08	TCGA-E8-A434-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3e7e827-91b5-4aa7-ae53-c2e5a8026386	8e990c86-db84-4b6e-9b12-40a7dcf45912	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		14	43	0	0	0	1	0	14	43					T	140453136	A	T	140453136	3	4	185	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E8-A434-01A-11D-A23M-08	108860336	140453136	18685527	8	3898											
MKNK2	2872	broad.mit.edu	37	chr19	2039729	2039729	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aggcagcgtgaggtagctcgGaccaggacgggctggccctg	18	11	0	1			TCGA-E8-A434-01A-11D-A23M-08	TCGA-E8-A434-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3e7e827-91b5-4aa7-ae53-c2e5a8026386	8e990c86-db84-4b6e-9b12-40a7dcf45912	g.chr19:2039729G>T	ENST00000591601.1	-	13	1316	c.1281C>A	c.(1279-1281)gtC>gtA	p.V427V	MKNK2_ENST00000250896.3_Silent_p.V427V|MKNK2_ENST00000309340.7_Intron|MKNK2_ENST00000591142.1_Intron|MKNK2_ENST00000541165.1_Silent_p.V296V			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	427					cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|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)		AGGTAGCTCGGACCAGGACGG	0.706																																						ENST00000250896.3																			0				breast(1)|kidney(3)|large_intestine(3)|lung(3)	10						c.(1279-1281)gtC>gtA		MAP kinase interacting serine/threonine kinase 2							33	31	32					19																	2039729		2203	4298	6501	SO:0001819	synonymous_variant	2872				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr19:2039729G>T	AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"Putative map kinase interacting kinase"	605069	"G protein-coupled receptor kinase 7"	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.1281C>A	19.37:g.2039729G>T						MKNK2_ENST00000309340.7_Intron|MKNK2_ENST00000541165.1_Silent_p.V296V|MKNK2_ENST00000591601.1_Silent_p.V427V|MKNK2_ENST00000591142.1_Intron	p.V427V	NM_199054.2	NP_951009.1	Q9HBH9	MKNK2_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)	14	1525	-		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	427					Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Silent	SNP	ENST00000591601.1	37	c.1281C>A	CCDS12080.1																																																																																				0.706	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449312.1	NM_199054		9	21	1	0	0.000274275	1	0.000274275	9	21					T	2039729	G	T	2039729	2	4	185	1	0	0	0	0	0	0	0	1	9605	1161	41	4		4	MKNK2	19	2039729	Silent	SNP	G	TCGA-E8-A434-01A-11D-A23M-08		2039729	57089254	9	3899											
NLGN4X	57502	broad.mit.edu	37	chrX	6069243	6069243	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggacgggggttctgggggctGaaaccgcctctctccagtgg	17	11	2	1			TCGA-E8-A434-01A-11D-A23M-08	TCGA-E8-A434-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3e7e827-91b5-4aa7-ae53-c2e5a8026386	8e990c86-db84-4b6e-9b12-40a7dcf45912	g.chrX:6069243G>A	ENST00000381095.3	-	2	892	c.265C>T	c.(265-267)Cag>Tag	p.Q89*	NLGN4X_ENST00000538097.1_Nonsense_Mutation_p.Q89*|NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000275857.6_Nonsense_Mutation_p.Q89*|NLGN4X_ENST00000381092.1_Nonsense_Mutation_p.Q89*|NLGN4X_ENST00000381093.2_Nonsense_Mutation_p.Q89*	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	89					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TCTGGGGGCTGAAACCGCCTC	0.582																																						ENST00000381095.3																			0				breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						c.(265-267)Cag>Tag		neuroligin 4, X-linked							63	59	60					X																	6069243		2203	4300	6503	SO:0001587	stop_gained	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:6069243G>A	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"neuroligin 4"	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.265C>T	X.37:g.6069243G>A	ENSP00000370485:p.Gln89*					NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000381093.2_Nonsense_Mutation_p.Q89*|NLGN4X_ENST00000381092.1_Nonsense_Mutation_p.Q89*|NLGN4X_ENST00000275857.6_Nonsense_Mutation_p.Q89*|NLGN4X_ENST00000538097.1_Nonsense_Mutation_p.Q89*	p.Q89*	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN			2	892	-			89					Q6UX10|Q9ULG0	Nonsense_Mutation	SNP	ENST00000381095.3	37	c.265C>T	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	G	40	8.106288	0.98657	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	.	.	.	4.09	4.09	0.47781	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8007	0.69913	0.0:0.0:1.0:0.0	.	.	.	.	X	89	.	ENSP00000275857:Q89X	Q	-	1	0	NLGN4X	6079243	1.000000	0.71417	0.936000	0.37596	0.693000	0.40251	6.271000	0.72569	1.660000	0.50760	0.600000	0.82982	CAG		0.582	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		4	52	0	0	0	1	0	4	52					A	6069243	G	A	6069243	4	1	185	1	0	0	0	0	0	1	0	0	10464	1299	45	2	2205	2	NLGN4X	23	6069243	Nonsense_Mutation	SNP	G	TCGA-E8-A434-01A-11D-A23M-08		6069243	149201317	10	3900											
ACRC	93953	broad.mit.edu	37	chrX	70824051	70824051	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcggaagctcccgacgacaaGagtgatgattcggatgttcc	12	10	0	3	rs200264438		TCGA-E8-A434-01A-11D-A23M-08	TCGA-E8-A434-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3e7e827-91b5-4aa7-ae53-c2e5a8026386	8e990c86-db84-4b6e-9b12-40a7dcf45912	g.chrX:70824051G>C	ENST00000373695.1	+	7	1461	c.924G>C	c.(922-924)aaG>aaC	p.K308N	ACRC_ENST00000373696.3_Missense_Mutation_p.K308N			Q96QF7	ACRC_HUMAN	acidic repeat containing	308	Asp/Ser-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CCGACGACAAGAGTGATGATT	0.498																																						ENST00000373695.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(922-924)aaG>aaC		acidic repeat containing							196	169	178					X																	70824051		2203	4300	6503	SO:0001583	missense	93953					nucleus		g.chrX:70824051G>C	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.924G>C	X.37:g.70824051G>C	ENSP00000362799:p.Lys308Asn					ACRC_ENST00000373696.3_Missense_Mutation_p.K308N	p.K308N			Q96QF7	ACRC_HUMAN			7	1461	+	Renal(35;0.156)		308			Asp/Ser-rich.		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.924G>C	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	g	0.009	-1.818152	0.00595	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.32753	1.44;1.44	0.14	-0.28	0.12886	.	.	.	.	.	T	0.09905	0.0243	N	0.03608	-0.345	0.18873	N	0.999985	B	0.02656	0.0	B	0.01281	0.0	T	0.27773	-1.0064	8	0.16420	T	0.52	.	.	.	.	.	308	Q96QF7	ACRC_HUMAN	N	308	ENSP00000362800:K308N;ENSP00000362799:K308N	ENSP00000362799:K308N	K	+	3	2	ACRC	70740776	0.000000	0.05858	0.012000	0.15200	0.012000	0.07955	-2.450000	0.01007	-1.326000	0.02266	-1.336000	0.01259	AAG		0.498	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			4	231	0	0	0	1	0	4	231					C	70824051	G	C	70824051	3	2	185	1	0	0	0	0	1	0	0	0	171	933	33	4	950	4	ACRC	23	70824051	Missense_Mutation	SNP	G	TCGA-E8-A434-01A-11D-A23M-08	64754808	70824051	84446509	11	3901											
FAM46D	169966	broad.mit.edu	37	chrX	79698776	79698776	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcttgctggttcatggCttcaagccagcctgtatgtc	11	11	2	0			TCGA-E8-A434-01A-11D-A23M-08	TCGA-E8-A434-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3e7e827-91b5-4aa7-ae53-c2e5a8026386	8e990c86-db84-4b6e-9b12-40a7dcf45912	g.chrX:79698776C>A	ENST00000308293.5	+	3	977	c.738C>A	c.(736-738)ggC>ggA	p.G246G	FAM46D_ENST00000538312.1_Silent_p.G246G	NM_152630.4	NP_689843.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	246										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						TGGTTCATGGCTTCAAGCCAG	0.398																																						ENST00000538312.1																			0				kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(736-738)ggC>ggA		family with sequence similarity 46, member D							63	48	53					X																	79698776		2201	4299	6500	SO:0001819	synonymous_variant	169966							g.chrX:79698776C>A	BX537938	CCDS14446.1	Xq21.1	2009-08-18			ENSG00000174016	ENSG00000174016			28399	protein-coding gene	gene with protein product	"cancer/testis antigen 112"					12477932	Standard	NM_152630		Approved	MGC26999, CT1.26, CT112	uc004edl.1	Q8NEK8	OTTHUMG00000021902	ENST00000308293.5:c.738C>A	X.37:g.79698776C>A						FAM46D_ENST00000308293.5_Silent_p.G246G	p.G246G	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN			5	1072	+			246					B2R9Q6|Q7Z3F6|Q8NHU1	Silent	SNP	ENST00000308293.5	37	c.738C>A	CCDS14446.1																																																																																				0.398	FAM46D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057338.1	NM_152630		14	32	1	0	1.5842e-08	1	1.67739e-08	14	32					A	79698776	C	A	79698776	2	1	185	1	0	0	0	0	0	0	0	1	5568	784	28	4		4	FAM46D	23	79698776	Silent	SNP	C	TCGA-E8-A434-01A-11D-A23M-08	8874725	79698776	75571784	12	3902											
CSMD2	114784	broad.mit.edu	37	chr1	34087848	34087848	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagctggttggaggtgctgtTcagaagggcaggcacggttg	19	6	1	1			TCGA-E8-A436-01A-12D-A23U-08	TCGA-E8-A436-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880059a5-6b55-4711-973d-103913cabb97	5179f570-8244-445b-af30-f2f271d41214	g.chr1:34087848T>C	ENST00000373380.1	-	16	2585	c.2365A>G	c.(2365-2367)Aac>Gac	p.N789D	CSMD2_ENST00000373388.2_Missense_Mutation_p.N15D|CSMD2_ENST00000373377.1_Missense_Mutation_p.N15D|CSMD2_ENST00000373381.4_Missense_Mutation_p.N1916D			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1876	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAGGTGCTGTTCAGAAGGGCA	0.512																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(5746-5748)Aac>Gac		CUB and Sushi multiple domains 2							148	130	136					1																	34087848		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34087848T>C	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.2365A>G	1.37:g.34087848T>C	ENSP00000362478:p.Asn789Asp					CSMD2_ENST00000373380.1_Missense_Mutation_p.N789D|CSMD2_ENST00000373377.1_Missense_Mutation_p.N15D|CSMD2_ENST00000373388.2_Missense_Mutation_p.N15D	p.N1916D	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			37	5922	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1876			Sushi 11.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.5746A>G		.	.	.	.	.	.	.	.	.	.	T	32	5.118420	0.94385	.	.	ENSG00000121904	ENST00000373381;ENST00000373380;ENST00000373377;ENST00000373388	T;T;T;T	0.59638	0.25;0.25;0.25;0.25	5.75	5.75	0.90469	CUB (5);	0.000000	0.85682	D	0.000000	T	0.70124	0.3188	L	0.51914	1.62	0.58432	D	0.999994	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	T	0.67856	-0.5562	10	0.33940	T	0.23	.	14.8904	0.70604	0.0:0.0:0.0:1.0	.	789;1876;1916	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	D	1916;789;15;15	ENSP00000362479:N1916D;ENSP00000362478:N789D;ENSP00000362475:N15D;ENSP00000362486:N15D	ENSP00000241312:N1876D	N	-	1	0	CSMD2	33860435	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.669000	0.83911	2.201000	0.70794	0.533000	0.62120	AAC		0.512	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		10	43	0	0	0	1	0	10	43					C	34087848	T	C	34087848	3	2	186	1	0	0	0	0	1	0	0	0	3945	1783	62	3	4969	3	CSMD2	1	34087848	Missense_Mutation	SNP	T	TCGA-E8-A436-01A-12D-A23U-08		34087848	215162773	1	3903											
FAAH	2166	broad.mit.edu	37	chr1	46867852	46867852	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agagagctggcccctgaggcCgtgctcttcacctatgtggg	14	12	2	2			TCGA-E8-A436-01A-12D-A23U-08	TCGA-E8-A436-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880059a5-6b55-4711-973d-103913cabb97	5179f570-8244-445b-af30-f2f271d41214	g.chr1:46867852C>G	ENST00000243167.8	+	2	369	c.285C>G	c.(283-285)gcC>gcG	p.A95A	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	95					fatty acid catabolic process (GO:0009062)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)	acylglycerol lipase activity (GO:0047372)|carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|fatty acid amide hydrolase activity (GO:0017064)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	CCCCTGAGGCCGTGCTCTTCA	0.632																																						ENST00000243167.8																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22						c.(283-285)gcC>gcG		fatty acid amide hydrolase	Propofol(DB00818)|Thiopental(DB00599)						33	30	31					1																	46867852		2203	4299	6502	SO:0001819	synonymous_variant	2166				fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity	g.chr1:46867852C>G	U82535	CCDS535.1	1p35-p34	2008-02-05			ENSG00000117480	ENSG00000117480			3553	protein-coding gene	gene with protein product		602935				9122178	Standard	NM_001441		Approved	FAAH-1	uc001cpu.2	O00519	OTTHUMG00000007811	ENST00000243167.8:c.285C>G	1.37:g.46867852C>G						FAAH_ENST00000493735.1_3'UTR	p.A95A	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN			2	369	+	Acute lymphoblastic leukemia(166;0.155)		95					D3DQ19|Q52M86|Q5TDF8	Silent	SNP	ENST00000243167.8	37	c.285C>G	CCDS535.1																																																																																				0.632	FAAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021443.1	NM_001441		3	5	0	0	0	1	0	3	5					G	46867852	C	G	46867852	2	3	186	1	0	0	0	0	0	0	0	1	5353	639	23	4		4	FAAH	1	46867852	Silent	SNP	C	TCGA-E8-A436-01A-12D-A23U-08	12780004	46867852	202382769	2	3904											
WLS	79971	broad.mit.edu	37	chr1	68619274	68619274	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accataatgatgaagatgctGggcgtaaggaaggtcttcat	12	6	2	3			TCGA-E8-A436-01A-12D-A23U-08	TCGA-E8-A436-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880059a5-6b55-4711-973d-103913cabb97	5179f570-8244-445b-af30-f2f271d41214	g.chr1:68619274G>A	ENST00000262348.4	-	5	982	c.729C>T	c.(727-729)ccC>ccT	p.P243P	WLS_ENST00000491811.1_5'UTR|WLS_ENST00000354777.2_Silent_p.P241P|WLS_ENST00000370976.3_Silent_p.P152P|WLS_ENST00000540432.1_Silent_p.P243P|GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	243					anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						TGAAGATGCTGGGCGTAAGGA	0.483																																						ENST00000262348.4																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						c.(727-729)ccC>ccT		wntless Wnt ligand secretion mediator							133	108	117					1																	68619274		2203	4300	6503	SO:0001819	synonymous_variant	79971				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity	g.chr1:68619274G>A	BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"wntless homolog"	611514	"chromosome 1 open reading frame 139", "G protein-coupled receptor 177", "wntless homolog (Drosophila)"	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.729C>T	1.37:g.68619274G>A						WLS_ENST00000354777.2_Silent_p.P241P|WLS_ENST00000491811.1_5'UTR|WLS_ENST00000540432.1_Silent_p.P243P|GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000370976.3_Silent_p.P152P|GNG12-AS1_ENST00000413628.1_RNA	p.P243P	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN			5	982	-			243					B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Silent	SNP	ENST00000262348.4	37	c.729C>T	CCDS642.1	.	.	.	.	.	.	.	.	.	.	G	9.821	1.185743	0.21870	.	.	ENSG00000116729	ENST00000534713	T	0.38887	1.11	5.48	4.57	0.56435	.	0.053238	0.85682	D	0.000000	T	0.34019	0.0883	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33163	-0.9879	7	0.54805	T	0.06	-19.9025	6.531	0.22326	0.1489:0.0:0.7049:0.1462	.	.	.	.	L	146	ENSP00000431552:P146L	ENSP00000431552:P146L	P	-	2	0	WLS	68391862	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.179000	0.50887	1.313000	0.45069	0.563000	0.77884	CCA		0.483	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025368.1	NM_024911		9	20	0	0	0	1	0	9	20					A	68619274	G	A	68619274	2	1	186	1	0	0	0	0	0	0	0	1	17373	1335	47	2		2	WLS	1	68619274	Silent	SNP	G	TCGA-E8-A436-01A-12D-A23U-08	21751422	68619274	180631347	3	3905											
RGL1	23179	broad.mit.edu	37	chr1	183849863	183849863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatctcacacggatgatgcCgggctctgacccagaaagaa	10	11	2	4			TCGA-E8-A436-01A-12D-A23U-08	TCGA-E8-A436-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880059a5-6b55-4711-973d-103913cabb97	5179f570-8244-445b-af30-f2f271d41214	g.chr1:183849863C>T	ENST00000360851.3	+	5	717	c.539C>T	c.(538-540)cCg>cTg	p.P180L	RGL1_ENST00000536277.1_Missense_Mutation_p.P178L|RGL1_ENST00000304685.4_Missense_Mutation_p.P215L|RGL1_ENST00000539189.1_Missense_Mutation_p.P180L			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	180	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CGGATGATGCCGGGCTCTGAC	0.488																																						ENST00000304685.3																			0				breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						c.(643-645)cCg>cTg		ral guanine nucleotide dissociation stimulator-like 1							80	78	79					1																	183849863		2203	4300	6503	SO:0001583	missense	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183849863C>T	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.539C>T	1.37:g.183849863C>T	ENSP00000354097:p.Pro180Leu					RGL1_ENST00000360851.3_Missense_Mutation_p.P180L|RGL1_ENST00000539189.1_Missense_Mutation_p.P180L|RGL1_ENST00000367531.1_Missense_Mutation_p.P215L|RGL1_ENST00000536277.1_Missense_Mutation_p.P178L	p.P215L	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN			6	1105	+			180					Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	37	c.644C>T		.	.	.	.	.	.	.	.	.	.	C	29.3	4.990659	0.93106	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000360851;ENST00000539189	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	5.16	5.16	0.70880	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.55049	0.1896	M	0.63428	1.95	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.997;0.997;0.997	T	0.54146	-0.8337	10	0.51188	T	0.08	.	19.014	0.92886	0.0:1.0:0.0:0.0	.	180;178;180;215	F5H6U6;B7Z2W5;Q9NZL6;Q5SXQ6	.;.;RGL1_HUMAN;.	L	215;215;178;180;180	ENSP00000303192:P215L;ENSP00000356501:P215L;ENSP00000438662:P178L;ENSP00000354097:P180L;ENSP00000437355:P180L	ENSP00000303192:P215L	P	+	2	0	RGL1	182116486	1.000000	0.71417	0.992000	0.48379	0.882000	0.50991	5.789000	0.69029	2.552000	0.86080	0.555000	0.69702	CCG		0.488	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		7	39	0	0	0	1	0	7	39					T	183849863	C	T	183849863	3	4	186	1	0	0	0	0	1	0	0	0	13276	652	23	1	662	1	RGL1	1	183849863	Missense_Mutation	SNP	C	TCGA-E8-A436-01A-12D-A23U-08	115230589	183849863	65400758	4	3906											
P4HTM	54681	broad.mit.edu	37	chr3	49042565	49042565	+	Intron	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agccctgcactgtgggcgtgCcccttggcatggggccagga	16	13	0	0			TCGA-E8-A436-01A-12D-A23U-08	TCGA-E8-A436-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880059a5-6b55-4711-973d-103913cabb97	5179f570-8244-445b-af30-f2f271d41214	g.chr3:49042565C>G	ENST00000383729.4	+	6	1444				P4HTM_ENST00000343546.4_Missense_Mutation_p.P387A|WDR6_ENST00000395474.3_5'Flank|WDR6_ENST00000415265.2_5'Flank|WDR6_ENST00000448293.1_5'Flank|WDR6_ENST00000608424.1_5'Flank	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|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)			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	TGTGGGCGTGCCCCTTGGCAT	0.597																																						ENST00000343546.4																			0				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(1159-1161)Ccc>Gcc		prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	Vitamin C(DB00126)						56	51	53					3																	49042565		2203	4300	6503	SO:0001627	intron_variant	54681					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr3:49042565C>G		CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"Prolyl hydroxlase domain-containing 4", "hypoxia inducible factor prolyl 4 hydroxylase"	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.1073+86C>G	3.37:g.49042565C>G						P4HTM_ENST00000383729.4_Intron	p.P387A	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN			6	1527	+			0			Fe2OG dioxygenase.		Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Missense_Mutation	SNP	ENST00000383729.4	37	c.1159C>G	CCDS43089.1	.	.	.	.	.	.	.	.	.	.	C	8.543	0.873646	0.17322	.	.	ENSG00000178467	ENST00000343546	.	.	.	2.85	-0.211	0.13172	.	1.402880	0.05152	N	0.496164	T	0.28797	0.0714	.	.	.	0.09310	N	1	P	0.45715	0.865	B	0.41135	0.348	T	0.30650	-0.9971	7	.	.	.	.	8.3996	0.32579	0.6194:0.3806:0.0:0.0	.	387	Q9NXG6-3	.	A	387	.	.	P	+	1	0	P4HTM	49017569	0.000000	0.05858	0.003000	0.11579	0.029000	0.11900	-0.730000	0.04915	-0.051000	0.13334	-0.293000	0.09583	CCC		0.597	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1	NM_177938		9	38	0	0	0	1	0	9	38					G	49042565	C	G	49042565	1	3	186	0	1	0	0	0	0	0	0	0	11360	739	26	4		4	P4HTM	3	49042565	Intron	SNP	C	TCGA-E8-A436-01A-12D-A23U-08		49042565	148979865	5	3907											
ZNF680	340252	broad.mit.edu	37	chr7	63982234	63982234	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aaaccagttaaaggctttgtGacattcatcacatttgtaag	7	7	2	1			TCGA-E8-A436-01A-12D-A23U-08	TCGA-E8-A436-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880059a5-6b55-4711-973d-103913cabb97	5179f570-8244-445b-af30-f2f271d41214	g.chr7:63982234G>C	ENST00000309683.6	-	4	1049	c.898C>G	c.(898-900)Cac>Gac	p.H300D	ZNF680_ENST00000476563.1_5'Flank	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	300					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(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				AAGGCTTTGTGACATTCATCA	0.353																																						ENST00000309683.6																			0				breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27						c.(898-900)Cac>Gac		zinc finger protein 680							43	43	43					7																	63982234		2203	4300	6503	SO:0001583	missense	340252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63982234G>C	AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"Zinc fingers, C2H2-type", "-"	26897	protein-coding gene	gene with protein product	"hypothetical protein FLJ90430"					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.898C>G	7.37:g.63982234G>C	ENSP00000309330:p.His300Asp						p.H300D	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN			4	1049	-		Lung NSC(55;0.118)|all_lung(88;0.243)	300					B3KVJ4|Q6ZNF3|Q8NC79	Missense_Mutation	SNP	ENST00000309683.6	37	c.898C>G	CCDS34644.1	.	.	.	.	.	.	.	.	.	.	g	9.261	1.043250	0.19748	.	.	ENSG00000173041	ENST00000309683	T	0.13420	2.59	1.36	0.331	0.15933	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03871	0.0109	N	0.01048	-1.04	0.80722	D	1	B	0.06786	0.001	B	0.12156	0.007	T	0.34403	-0.9830	9	0.48119	T	0.1	.	5.3224	0.15889	0.0:0.6001:0.3999:0.0	.	300	Q8NEM1	ZN680_HUMAN	D	300	ENSP00000309330:H300D	ENSP00000309330:H300D	H	-	1	0	ZNF680	63619669	0.009000	0.17119	0.014000	0.15608	0.251000	0.25915	1.079000	0.30766	-0.154000	0.11118	-0.479000	0.04858	CAC		0.353	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344568.1	NM_178558		3	13	0	0	0	1	0	3	13					C	63982234	G	C	63982234	3	2	186	1	0	0	0	0	1	0	0	0	18084	1290	45	4	698	4	ZNF680	7	63982234	Missense_Mutation	SNP	G	TCGA-E8-A436-01A-12D-A23U-08		63982234	95156429	6	3908											
MKRN1	23608	broad.mit.edu	37	chr7	140155658	140155658	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcctccacccagtactcactTggaatgacaaagttagatgt	7	11	1	2			TCGA-E8-A436-01A-12D-A23U-08	TCGA-E8-A436-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880059a5-6b55-4711-973d-103913cabb97	5179f570-8244-445b-af30-f2f271d41214	g.chr7:140155658T>A	ENST00000255977.2	-	6	1253	c.1029A>T	c.(1027-1029)ccA>ccT	p.P343P	MKRN1_ENST00000474576.1_Silent_p.P279P|MKRN1_ENST00000437223.2_Silent_p.P77P	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	343					protein polyubiquitination (GO:0000209)		chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					AGTACTCACTTGGAATGACAA	0.468																																						ENST00000255977.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16						c.(1027-1029)ccA>ccT		makorin ring finger protein 1							92	89	90					7																	140155658		2203	4300	6503	SO:0001819	synonymous_variant	23608						ligase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:140155658T>A	AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606		"RING-type (C3HC4) zinc fingers"	7112	protein-coding gene	gene with protein product		607754				10843807	Standard	NM_013446		Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000255977.2:c.1029A>T	7.37:g.140155658T>A						MKRN1_ENST00000437223.2_Silent_p.P77P|MKRN1_ENST00000474576.1_Silent_p.P279P	p.P343P	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN			6	1253	-	Melanoma(164;0.00956)		343					A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	Silent	SNP	ENST00000255977.2	37	c.1029A>T	CCDS5860.1																																																																																				0.468	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348752.1	NM_013446		7	24	0	0	0	1	0	7	24					A	140155658	T	A	140155658	2	1	186	1	0	0	0	0	0	0	0	1	9606	1799	63	5		5	MKRN1	7	140155658	Silent	SNP	T	TCGA-E8-A436-01A-12D-A23U-08	76173424	140155658	18983005	7	3909											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E8-A436-01A-12D-A23U-08	TCGA-E8-A436-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880059a5-6b55-4711-973d-103913cabb97	5179f570-8244-445b-af30-f2f271d41214	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		5	20	0	0	0	1	0	5	20					T	140453136	A	T	140453136	3	4	186	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E8-A436-01A-12D-A23U-08	297478	140453136	18685527	8	3910											
DRD4	1815	broad.mit.edu	37	chr11	639536	639536	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcaacctgtgcgccatcaGcgtggacaggtgcgccgccc	12	16	2	0			TCGA-E8-A436-01A-12D-A23U-08	TCGA-E8-A436-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880059a5-6b55-4711-973d-103913cabb97	5179f570-8244-445b-af30-f2f271d41214	g.chr11:639536G>T	ENST00000176183.5	+	2	401	c.389G>T	c.(388-390)aGc>aTc	p.S130I	DRD4_ENST00000528733.1_3'UTR	NM_000797.3	NP_000788.2	P21917	DRD4_HUMAN	dopamine receptor D4	130					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult locomotory behavior (GO:0008344)|arachidonic acid secretion (GO:0050482)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|cellular calcium ion homeostasis (GO:0006874)|circadian rhythm (GO:0007623)|dopamine metabolic process (GO:0042417)|dopamine receptor signaling pathway (GO:0007212)|fear response (GO:0042596)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein secretion (GO:0050709)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|olfactory learning (GO:0008355)|photoperiodism (GO:0009648)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of kinase activity (GO:0033674)|positive regulation of penile erection (GO:0060406)|positive regulation of sodium:proton antiporter activity (GO:0032417)|regulation of calcium-mediated signaling (GO:0050848)|regulation of circadian rhythm (GO:0042752)|regulation of dopamine metabolic process (GO:0042053)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of neurotransmitter secretion (GO:0046928)|response to amphetamine (GO:0001975)|response to histamine (GO:0034776)|response to steroid hormone (GO:0048545)|retina development in camera-type eye (GO:0060041)|short-term memory (GO:0007614)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)	cell cortex (GO:0005938)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|vesicle membrane (GO:0012506)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)|SH3 domain binding (GO:0017124)			NS(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Ziprasidone(DB00246)	TGCGCCATCAGCGTGGACAGG	0.776																																						ENST00000176183.5																			0				NS(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(388-390)aGc>aTc		dopamine receptor D4	Apomorphine(DB00714)|Clozapine(DB00363)|Olanzapine(DB00334)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Ropinirole(DB00268)|Thiethylperazine(DB00372)|Ziprasidone(DB00246)						28	22	24					11																	639536		2191	4291	6482	SO:0001583	missense	1815				activation of MAPK activity|adult locomotory behavior|arachidonic acid secretion|behavioral fear response|behavioral response to cocaine|behavioral response to ethanol|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of protein secretion|positive regulation of sodium:hydrogen antiporter activity|regulation of dopamine metabolic process|regulation of inhibitory postsynaptic membrane potential|response to amphetamine|response to histamine|social behavior	integral to plasma membrane	dopamine D4 receptor activity|drug binding|potassium channel regulator activity|SH3 domain binding	g.chr11:639536G>T	L12398	CCDS7710.1	11p15.5	2012-08-08			ENSG00000069696	ENSG00000069696		"GPCR / Class A : Dopamine receptors"	3025	protein-coding gene	gene with protein product		126452					Standard	NM_000797		Approved		uc001lqp.2	P21917	OTTHUMG00000133312	ENST00000176183.5:c.389G>T	11.37:g.639536G>T	ENSP00000176183:p.Ser130Ile					DRD4_ENST00000528733.1_3'UTR	p.S130I	NM_000797.3	NP_000788.2	P21917	DRD4_HUMAN		all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	401	+		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	130					B0M0J7|Q7Z7Q5|Q8NGM5	Missense_Mutation	SNP	ENST00000176183.5	37	c.389G>T	CCDS7710.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.986983	0.74589	.	.	ENSG00000069696	ENST00000176183	T	0.81330	-1.48	3.29	3.29	0.37713	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.88047	0.6332	.	.	.	0.58432	D	0.999993	D	0.76494	0.999	D	0.71656	0.974	D	0.89507	0.3768	9	0.87932	D	0	.	12.4391	0.55615	0.0:0.0:1.0:0.0	.	130	P21917	DRD4_HUMAN	I	130	ENSP00000176183:S130I	ENSP00000176183:S130I	S	+	2	0	DRD4	629536	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.337000	0.79256	1.842000	0.53543	0.462000	0.41574	AGC		0.776	DRD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257109.1	NM_000797		7	28	1	0	0.000157383	1	0.000157383	7	28					T	639536	G	T	639536	3	4	186	1	0	0	0	0	1	0	0	0	4759	971	34	4	395	4	DRD4	11	639536	Missense_Mutation	SNP	G	TCGA-E8-A436-01A-12D-A23U-08		639536	134366980	9	3911											
OR5L1	219437	broad.mit.edu	37	chr11	55579597	55579597	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatcatcctcacctcctacCtgctaattctcaccaccatc	2	18	3	1			TCGA-E8-A436-01A-12D-A23U-08	TCGA-E8-A436-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880059a5-6b55-4711-973d-103913cabb97	5179f570-8244-445b-af30-f2f271d41214	g.chr11:55579597C>A	ENST00000333973.2	+	1	744	c.655C>A	c.(655-657)Ctg>Atg	p.L219M		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	219						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(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CACCTCCTACCTGCTAATTCT	0.502																																						ENST00000333973.2																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(655-657)Ctg>Atg		olfactory receptor, family 5, subfamily L, member 1							214	173	187					11																	55579597		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579597C>A	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.655C>A	11.37:g.55579597C>A	ENSP00000335529:p.Leu219Met						p.L219M	NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN			1	744	+		all_epithelial(135;0.208)	219					B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.655C>A	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	c	10.82	1.458279	0.26161	.	.	ENSG00000186117	ENST00000333973	T	0.00145	8.67	4.12	-8.23	0.01033	GPCR, rhodopsin-like superfamily (1);	0.390474	0.19435	N	0.114335	T	0.00178	0.0005	L	0.31476	0.935	0.09310	N	1	P	0.49447	0.924	D	0.64877	0.93	T	0.41627	-0.9498	10	0.37606	T	0.19	-23.243	8.1312	0.31029	0.0739:0.4145:0.4109:0.1007	.	219	Q8NGL2	OR5L1_HUMAN	M	219	ENSP00000335529:L219M	ENSP00000335529:L219M	L	+	1	2	OR5L1	55336173	0.000000	0.05858	0.000000	0.03702	0.218000	0.24690	-3.420000	0.00477	-3.442000	0.00162	-0.468000	0.05107	CTG		0.502	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		21	63	1	0	2.39187e-15	1	2.47435e-15	21	63					A	55579597	C	A	55579597	3	1	186	1	0	0	0	0	1	0	0	0	11170	680	24	4	657	4	OR5L1	11	55579597	Missense_Mutation	SNP	C	TCGA-E8-A436-01A-12D-A23U-08	54940061	55579597	79426919	10	3912											
ADAMTS20	80070	broad.mit.edu	37	chr12	43826126	43826126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgctccattcactagcaGcccaactgggacaggaaaat	8	14	1	0			TCGA-E8-A436-01A-12D-A23U-08	TCGA-E8-A436-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880059a5-6b55-4711-973d-103913cabb97	5179f570-8244-445b-af30-f2f271d41214	g.chr12:43826126G>A	ENST00000389420.3	-	21	3076	c.3077C>T	c.(3076-3078)gCt>gTt	p.A1026V	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.A180V|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.A1026V	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1026	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTCACTAGCAGCCCAACTGGG	0.378																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(3076-3078)gCt>gTt		ADAM metallopeptidase with thrombospondin type 1 motif, 20							115	106	109					12																	43826126		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43826126G>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3077C>T	12.37:g.43826126G>A	ENSP00000374071:p.Ala1026Val					ADAMTS20_ENST00000553158.1_Missense_Mutation_p.A1026V|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.A180V	p.A1026V	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	21	3076	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1026			TSP type-1 5.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.3077C>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	12.02	1.811869	0.32053	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	4.91	4.02	0.46733	.	0.130292	0.34223	N	0.004157	T	0.44307	0.1287	L	0.33093	0.98	0.22591	N	0.998958	B;P	0.49961	0.242;0.93	B;P	0.45913	0.159;0.497	T	0.23297	-1.0192	10	0.17832	T	0.49	.	6.351	0.21375	0.1551:0.0:0.6959:0.1489	.	1026;180	P59510;E9PBD5	ATS20_HUMAN;.	V	1026;192;180;1026;1026	ENSP00000374071:A1026V;ENSP00000447427:A192V;ENSP00000378911:A180V;ENSP00000448341:A1026V	ENSP00000374068:A1026V	A	-	2	0	ADAMTS20	42112393	0.772000	0.28567	0.986000	0.45419	0.955000	0.61496	1.157000	0.31724	1.375000	0.46248	0.563000	0.77884	GCT		0.378	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		3	25	0	0	0	1	0	3	25					A	43826126	G	A	43826126	3	1	186	1	0	0	0	0	1	0	0	0	266	971	34	2	2730	2	ADAMTS20	12	43826126	Missense_Mutation	SNP	G	TCGA-E8-A436-01A-12D-A23U-08		43826126	90025769	11	3913											
KRT6A	3853	broad.mit.edu	37	chr12	52885509	52885509	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaccttgttctgctgctcCaggaaccgcacctgaaagag	10	12	1	3			TCGA-E8-A436-01A-12D-A23U-08	TCGA-E8-A436-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880059a5-6b55-4711-973d-103913cabb97	5179f570-8244-445b-af30-f2f271d41214	g.chr12:52885509C>T	ENST00000330722.6	-	2	620	c.552G>A	c.(550-552)ctG>ctA	p.L184L		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	184	Coil 1A.|Rod.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCTGCTGCTCCAGGAACCGCA	0.537																																						ENST00000330722.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(550-552)ctG>ctA		keratin 6A							54	54	54					12																	52885509		2203	4300	6503	SO:0001819	synonymous_variant	3853				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52885509C>T	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"-", "Intermediate filaments type II, keratins (basic)"	6443	protein-coding gene	gene with protein product		148041	"keratin 6C", "keratin 6D"	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.552G>A	12.37:g.52885509C>T							p.L184L	NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	2	620	-			184			Coil 1A.|Rod.		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Silent	SNP	ENST00000330722.6	37	c.552G>A	CCDS41786.1																																																																																				0.537	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		5	61	0	0	0	1	0	5	61					T	52885509	C	T	52885509	2	4	186	1	0	0	0	0	0	0	0	1	8480	581	21	2		2	KRT6A	12	52885509	Silent	SNP	C	TCGA-E8-A436-01A-12D-A23U-08	9059383	52885509	80966386	12	3914											
GPR109B	8843	broad.mit.edu	37	chr12	123201154	123201154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacagggcaaggccattgCccagaagcccaaagataaac	9	13	0	2			TCGA-E8-A436-01A-12D-A23U-08	TCGA-E8-A436-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880059a5-6b55-4711-973d-103913cabb97	5179f570-8244-445b-af30-f2f271d41214	g.chr12:123201154C>T	ENST00000528880.2	-	1	285	c.131G>A	c.(130-132)gGc>gAc	p.G44D	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	44					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)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Niacin(DB00627)	AAGGCCATTGCCCAGAAGCCC	0.502																																						ENST00000528880.2																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9						c.(130-132)gGc>gAc		hydroxycarboxylic acid receptor 3	Mepenzolate(DB04843)|Niacin(DB00627)						66	65	65					12																	123201154		2203	4300	6503	SO:0001583	missense	8843					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr12:123201154C>T	D10923	CCDS53842.1	12q24.31	2012-08-08	2011-05-30	2011-05-30		ENSG00000255398		"GPCR / Class A : Hydroxy-carboxylic acid receptors"	16824	protein-coding gene	gene with protein product		606039	"G protein-coupled receptor 109B"	GPR109B		7505609, 9205127, 18983141, 21454438	Standard	NM_006018		Approved	HCA3, HM74	uc001ucy.4	P49019		ENST00000528880.2:c.131G>A	12.37:g.123201154C>T	ENSP00000436714:p.Gly44Asp					HCAR1_ENST00000356987.2_Intron	p.G44D	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN			1	285	-			44					A8K4G5|B2R830|E9PI97|Q8NGE4	Missense_Mutation	SNP	ENST00000528880.2	37	c.131G>A	CCDS53842.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508934	0.64410	.	.	ENSG00000255398	ENST00000528880	T	0.57107	0.42	3.27	2.36	0.29203	.	.	.	.	.	T	0.77219	0.4098	H	0.96460	3.825	0.43010	D	0.994541	D	0.76494	0.999	D	0.73380	0.98	T	0.78635	-0.2127	9	0.72032	D	0.01	.	8.4536	0.32886	0.0:0.8747:0.0:0.1253	.	44	E9PI97	.	D	44	ENSP00000436714:G44D	ENSP00000436714:G44D	G	-	2	0	HCAR3	121767107	0.008000	0.16893	0.992000	0.48379	0.806000	0.45545	1.923000	0.40055	0.470000	0.27294	0.184000	0.17185	GGC		0.502	HCAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387549.2	NM_006018		4	20	0	0	0	1	0	4	20					T	123201154	C	T	123201154	3	4	186	1	0	0	0	0	1	0	0	0	6626	739	26	2	1036	2	GPR109B	12	123201154	Missense_Mutation	SNP	C	TCGA-E8-A436-01A-12D-A23U-08	70315645	123201154	10650741	13	3915											
AK7	122481	broad.mit.edu	37	chr14	96887171	96887171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tataataggaggattctgagGttccattcactgaagaagat	10	5	2	4			TCGA-E8-A436-01A-12D-A23U-08	TCGA-E8-A436-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880059a5-6b55-4711-973d-103913cabb97	5179f570-8244-445b-af30-f2f271d41214	g.chr14:96887171G>A	ENST00000267584.4	+	5	555	c.511G>A	c.(511-513)Gtt>Att	p.V171I	AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	171					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GGATTCTGAGGTTCCATTCAC	0.343																																						ENST00000267584.4																			0				breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(511-513)Gtt>Att		adenylate kinase 7							74	76	76					14																	96887171		2203	4300	6503	SO:0001583	missense	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96887171G>A	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"Adenylate kinases"	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.511G>A	14.37:g.96887171G>A	ENSP00000267584:p.Val171Ile					AK7_ENST00000554313.1_3'UTR	p.V171I	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	5	555	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	171					Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	37	c.511G>A	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	G	3.929	-0.016559	0.07681	.	.	ENSG00000140057	ENST00000267584	T	0.27104	1.69	5.21	0.719	0.18208	NAD(P)-binding domain (1);	0.428856	0.23893	N	0.043527	T	0.06962	0.0177	N	0.01751	-0.74	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41305	-0.9516	10	0.02654	T	1	-8.7476	8.1563	0.31171	0.4292:0.0:0.5708:0.0	.	171	Q96M32	KAD7_HUMAN	I	171	ENSP00000267584:V171I	ENSP00000267584:V171I	V	+	1	0	AK7	95956924	1.000000	0.71417	0.034000	0.17996	0.432000	0.31715	1.165000	0.31822	-0.089000	0.12484	0.561000	0.74099	GTT		0.343	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1			5	9	0	0	0	1	0	5	9					A	96887171	G	A	96887171	3	1	186	1	0	0	0	0	1	0	0	0	444	1261	44	2	529	2	AK7	14	96887171	Missense_Mutation	SNP	G	TCGA-E8-A436-01A-12D-A23U-08		96887171	10462369	14	3916											
LRRC4B	94030	broad.mit.edu	37	chr19	51022055	51022055	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggttgtggttgaggtgcacGcgctcgaggcggtgcagggg	22	7	0	1	rs372018089		TCGA-E8-A436-01A-12D-A23U-08	TCGA-E8-A436-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880059a5-6b55-4711-973d-103913cabb97	5179f570-8244-445b-af30-f2f271d41214	g.chr19:51022055G>A	ENST00000599957.1	-	3	1112	c.915C>T	c.(913-915)cgC>cgT	p.R305R	LRRC4B_ENST00000389201.3_Silent_p.R305R			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	305					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TGAGGTGCACGCGCTCGAGGC	0.642																																						ENST00000599957.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30						c.(913-915)cgC>cgT		leucine rich repeat containing 4B		G		1,4349		0,1,2174	81	94	89		915	-1.2	1.0	19		89	0,8526		0,0,4263	no	coding-synonymous	LRRC4B	NM_001080457.1		0,1,6437	AA,AG,GG		0.0,0.023,0.0078		305/714	51022055	1,12875	2175	4263	6438	SO:0001819	synonymous_variant	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51022055G>A	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"Immunoglobulin superfamily / I-set domain containing", "Endogenous ligands"	25042	protein-coding gene	gene with protein product	"netrin-G3 ligand"		"leucine-rich repeats and immunoglobulin-like domains 4"	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.915C>T	19.37:g.51022055G>A						LRRC4B_ENST00000389201.3_Silent_p.R305R	p.R305R			Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	1112	-		all_neural(266;0.131)	305					Q3ZCQ4|Q58F20	Silent	SNP	ENST00000599957.1	37	c.915C>T	CCDS42595.1																																																																																				0.642	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		13	107	0	0	0	1	0	13	107					A	51022055	G	A	51022055	2	1	186	1	0	0	0	0	0	0	0	1	9007	1074	38	1		1	LRRC4B	19	51022055	Silent	SNP	G	TCGA-E8-A436-01A-12D-A23U-08		51022055	8106928	15	3917											
TRPM2	7226	broad.mit.edu	37	chr21	45819240	45819240	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaaactgctcacccgcgtGtccgaggcctgggggaagac	14	13	1	2			TCGA-E8-A436-01A-12D-A23U-08	TCGA-E8-A436-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880059a5-6b55-4711-973d-103913cabb97	5179f570-8244-445b-af30-f2f271d41214	g.chr21:45819240G>A	ENST00000397928.1	+	14	2569	c.2124G>A	c.(2122-2124)gtG>gtA	p.V708V	TRPM2_ENST00000300481.9_Silent_p.V688V|TRPM2_ENST00000397932.2_Silent_p.V708V|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Silent_p.V708V	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	708					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TCACCCGCGTGTCCGAGGCCT	0.632																																						ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(2122-2124)gtG>gtA		transient receptor potential cation channel, subfamily M, member 2							65	63	63					21																	45819240		2203	4299	6502	SO:0001819	synonymous_variant	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45819240G>A	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.2124G>A	21.37:g.45819240G>A						TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Silent_p.V708V|TRPM2_ENST00000397932.2_Silent_p.V708V|TRPM2_ENST00000300481.9_Silent_p.V688V	p.V708V	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			14	2569	+			708					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	ENST00000397928.1	37	c.2124G>A	CCDS13710.1																																																																																				0.632	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		14	73	0	0	0	1	0	14	73					A	45819240	G	A	45819240	2	1	186	1	0	0	0	0	0	0	0	1	16583	1364	48	2		2	TRPM2	21	45819240	Silent	SNP	G	TCGA-E8-A436-01A-12D-A23U-08		45819240	2310655	16	3918											
CD99L2	83692	broad.mit.edu	37	chrX	149937526	149937528	+	In_Frame_Del	DEL	GGC	GGC	-													ctcagatccgggctggttcgGgcggcggcggcggctctgca					rs7877654	byFrequency	TCGA-E8-A436-01A-12D-A23U-08	TCGA-E8-A436-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880059a5-6b55-4711-973d-103913cabb97	5179f570-8244-445b-af30-f2f271d41214	g.chrX:149937526_149937528delGGC	ENST00000370377.3	-	11	885_887	c.768_770delGCC	c.(766-771)ccgccc>ccc	p.256_257PP>P	CD99L2_ENST00000466436.1_In_Frame_Del_p.207_208PP>P|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.183_184PP>P|CD99L2_ENST00000355149.3_In_Frame_Del_p.184_185PP>P	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	256	Poly-Pro.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGGTTCGGGCGGCGGCGGCG	0.611																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(766-771)ccc>cc		CD99 molecule-like 2																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149937526_149937528delGGC	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"MIC2 like 1", "CD99 antigen-like 2"	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.768_770delGCC	X.37:g.149937535_149937537delGGC	ENSP00000359403:p.Pro257del					CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del|CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del	p.PP256del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			11	885_887	-	Acute lymphoblastic leukemia(192;6.56e-05)		256			Poly-Pro.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.768_770delGCC	CCDS35427.1																																																																																				0.611	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		7	297						7	297	---	---	---	---	-	149937528	GGC	-	149937526	7	5	186	1	0	1	0	1	0	0	0	0	3051	1232	43	0	22	0	CD99L2	23	149937526	In_Frame_Del	DEL	GGC	TCGA-E8-A436-01A-12D-A23U-08		149937526	5333034	17	3919											
ITGAV	3685	broad.mit.edu	37	chr2	187541588	187541588	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccagcgcccatgcctgtgCctgtgtgggtgatcatttta	12	11	1	1			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr2:187541588C>A	ENST00000261023.3	+	29	3251	c.2977C>A	c.(2977-2979)Cct>Act	p.P993T	ITGAV_ENST00000374907.3_Missense_Mutation_p.P957T|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Missense_Mutation_p.P947T	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	993					angiogenesis (GO:0001525)|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)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	CATGCCTGTGCCTGTGTGGGT	0.423																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(2977-2979)Cct>Act		integrin, alpha V							136	128	131					2																	187541588		2203	4300	6503	SO:0001583	missense	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187541588C>A		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"CD molecules", "Integrins"	6150	protein-coding gene	gene with protein product		193210	"antigen identified by monoclonal antibody L230", "vitronectin receptor", "integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.2977C>A	2.37:g.187541588C>A	ENSP00000261023:p.Pro993Thr					ITGAV_ENST00000433736.2_Missense_Mutation_p.P947T|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Missense_Mutation_p.P957T	p.P993T	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	29	3251	+			993					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	ENST00000261023.3	37	c.2977C>A	CCDS2292.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988509	0.74589	.	.	ENSG00000138448	ENST00000261023;ENST00000374907;ENST00000433736	D;D;D	0.98901	-5.22;-5.22;-5.22	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.99137	0.9702	M	0.83483	2.645	0.47123	D	0.999329	D;D;D	0.76494	0.986;0.999;0.986	P;D;P	0.74674	0.843;0.984;0.843	D	0.99719	1.1009	10	0.87932	D	0	.	18.5007	0.90879	0.0:1.0:0.0:0.0	.	947;957;993	E7EWZ6;P06756-2;P06756	.;.;ITAV_HUMAN	T	993;957;947	ENSP00000261023:P993T;ENSP00000364042:P957T;ENSP00000404291:P947T	ENSP00000261023:P993T	P	+	1	0	ITGAV	187249833	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	4.291000	0.59025	2.423000	0.82170	0.650000	0.86243	CCT		0.423	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		25	62	1	0	6.21321e-17	1	6.56825e-17	25	62					A	187541588	C	A	187541588	3	1	187	1	0	0	0	0	1	0	0	0	7888	739	26	4	3142	4	ITGAV	2	187541588	Missense_Mutation	SNP	C	TCGA-E8-A437-01A-12D-A23U-08		187541588	55657785	1	3920											
CLK1	1195	broad.mit.edu	37	chr2	201718131	201718131	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacattttctgaatgaggtcAaagagacgctcatgttcaac	8	8	4	3			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr2:201718131A>G	ENST00000321356.4	-	13	1488	c.1353T>C	c.(1351-1353)ttT>ttC	p.F451F	CLK1_ENST00000434813.2_Silent_p.F493F|CLK1_ENST00000409769.2_Silent_p.F274F	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	451	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						GAATGAGGTCAAAGAGACGCT	0.363																																						ENST00000434813.2																			0				NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(1477-1479)ttT>ttC		CDC-like kinase 1							87	85	86					2																	201718131		2203	4300	6503	SO:0001819	synonymous_variant	1195				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr2:201718131A>G	L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"CDC-like kinases"	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.1353T>C	2.37:g.201718131A>G						CLK1_ENST00000409769.2_Silent_p.F274F|CLK1_ENST00000321356.4_Silent_p.F451F	p.F493F	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN			13	1813	-			451					B4DFW7|Q0P694|Q8N5V8	Silent	SNP	ENST00000321356.4	37	c.1479T>C	CCDS2331.1																																																																																				0.363	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2			14	28	0	0	0	1	0	14	28					G	201718131	A	G	201718131	2	3	187	1	0	0	0	0	0	0	0	1	3536	127	5	3		3	CLK1	2	201718131	Silent	SNP	A	TCGA-E8-A437-01A-12D-A23U-08	14176543	201718131	41481242	2	3921											
PGK2	5232	broad.mit.edu	37	chr6	49754598	49754598	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggctttctccacttctgcGcctacacagtccttcaggaa	7	15	3	0	rs549102825		TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr6:49754598G>A	ENST00000304801.3	-	1	455	c.303C>T	c.(301-303)ggC>ggT	p.G101G		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	101					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CCACTTCTGCGCCTACACAGT	0.522													G|||	1	0.000199681	8e-04	0	5008	,	,		19522	0		0	False		,,,				2504	0					ENST00000304801.3																			0				autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47						c.(301-303)ggC>ggT		phosphoglycerate kinase 2							123	115	117					6																	49754598		2203	4300	6503	SO:0001819	synonymous_variant	5232				glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chr6:49754598G>A	K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.303C>T	6.37:g.49754598G>A							p.G101G	NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN			1	455	-	Lung NSC(77;0.0402)		101					B2R6Y8|Q9H107	Silent	SNP	ENST00000304801.3	37	c.303C>T	CCDS4930.1																																																																																				0.522	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1			14	100	0	0	0	1	0	14	100					A	49754598	G	A	49754598	2	1	187	1	0	0	0	0	0	0	0	1	11791	1074	38	1		1	PGK2	6	49754598	Silent	SNP	G	TCGA-E8-A437-01A-12D-A23U-08		49754598	121360469	3	3922											
BRAF	673	broad.mit.edu	37	chr7	140453135	140453135	+	Silent	SNP	C	C	T													gacccactccatcgagatttCactgtagctagaccaaaatc					rs121913377|rs121913227|rs397516897		TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr7:140453135C>T	ENST00000288602.6	-	15	1860	c.1800G>A	c.(1798-1800)gtG>gtA	p.V600V		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(36)|p.V600D(16)|p.V600_K601>E(12)|p.T599_R603>I(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.V600V(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	ATCGAGATTTCACTGTAGCTA	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	70	Substitution - Missense(52)|Complex - deletion inframe(17)|Substitution - coding silent(1)	p.V600E(36)|p.V600D(16)|p.V600_K601>E(12)|p.T599_R603>I(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.V600V(1)	skin(40)|thyroid(12)|NS(8)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(2)|biliary_tract(2)|pancreas(2)|ovary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gtG>gtA		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						111	103	106					7																	140453135		2203	4300	6503	SO:0001819	synonymous_variant	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453135C>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1800G>A	7.37:g.140453135C>T							p.V600V	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Silent	SNP	ENST00000288602.6	37	c.1800G>A	CCDS5863.1																																																																																				0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		13	39	0	0	0	1	0	13	39					T	140453135	C	T	140453135	2	4	187	1	0	0	0	0	0	0	0	1	1496	813	29	2		2	BRAF	7	140453135	Silent	SNP	C	TCGA-E8-A437-01A-12D-A23U-08		140453135	18685528	4	3923	20	2									
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T													acccactccatcgagatttcActgtagctagaccaaaatca					rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		13	39	0	0	0	1	0	13	39					T	140453136	A	T	140453136	3	4	187	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E8-A437-01A-12D-A23U-08	1	140453136	18685527	5	3924	20	2									
GFI1B	8328	broad.mit.edu	37	chr9	135865148	135865148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcgcagcttcgagtgccGcatgtgcggcaaggccttca	15	12	1	0	rs367947845		TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr9:135865148G>A	ENST00000339463.3	+	10	1487	c.668G>A	c.(667-669)cGc>cAc	p.R223H	GFI1B_ENST00000450530.1_Missense_Mutation_p.R223H|GFI1B_ENST00000372124.1_Missense_Mutation_p.R177H|GFI1B_ENST00000372123.1_Missense_Mutation_p.R177H|GFI1B_ENST00000372122.1_Missense_Mutation_p.R223H|GFI1B_ENST00000534944.1_Missense_Mutation_p.R177H			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	223	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085)	p.R223F(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		TTCGAGTGCCGCATGTGCGGC	0.677																																						ENST00000339463.3																			1	Substitution - Missense(1)	p.R223F(1)	lung(1)	central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21						c.(667-669)cGc>cAc		growth factor independent 1B transcription repressor		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	49	43	45		530,668	1.4	1.0	9		45	0,8600		0,0,4300	no	missense,missense	GFI1B	NM_001135031.1,NM_004188.4	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	177/285,223/331	135865148	1,13005	2203	4300	6503	SO:0001583	missense	8328				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	g.chr9:135865148G>A	AF081946	CCDS6957.1, CCDS48049.1	9q34.13	2014-09-17	2007-10-04		ENSG00000165702	ENSG00000165702		"Zinc fingers, C2H2-type"	4238	protein-coding gene	gene with protein product		604383	"growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)"			9878267	Standard	NM_001135031		Approved		uc004ccg.3	Q5VTD9	OTTHUMG00000020848	ENST00000339463.3:c.668G>A	9.37:g.135865148G>A	ENSP00000344782:p.Arg223His					GFI1B_ENST00000372122.1_Missense_Mutation_p.R223H|GFI1B_ENST00000534944.1_Missense_Mutation_p.R177H|GFI1B_ENST00000372123.1_Missense_Mutation_p.R177H|GFI1B_ENST00000450530.1_Missense_Mutation_p.R223H|GFI1B_ENST00000372124.1_Missense_Mutation_p.R177H	p.R223H			Q5VTD9	GFI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)	10	1487	+			223			Interaction with ARIH2.|Mediates interaction with GATA1.		O95270|Q5VTD8|Q6FHZ2|Q6T888	Missense_Mutation	SNP	ENST00000339463.3	37	c.668G>A	CCDS6957.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.849738	0.51270	2.27E-4	0.0	ENSG00000165702	ENST00000372124;ENST00000339463;ENST00000450530;ENST00000534944;ENST00000372123;ENST00000372122	T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82	4.8	1.39	0.22231	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.065346	0.64402	D	0.000017	T	0.25232	0.0613	N	0.12443	0.215	0.27970	N	0.93643	B;B	0.16166	0.016;0.009	B;B	0.17098	0.01;0.017	T	0.15752	-1.0426	10	0.72032	D	0.01	-25.6719	5.495	0.16797	0.5423:0.0:0.4577:0.0	.	177;223	Q5VTD9-2;Q5VTD9	.;GFI1B_HUMAN	H	177;223;223;177;177;223	ENSP00000361197:R177H;ENSP00000344782:R223H;ENSP00000409546:R223H;ENSP00000446134:R177H;ENSP00000361196:R177H;ENSP00000361195:R223H	ENSP00000344782:R223H	R	+	2	0	GFI1B	134854969	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.572000	0.45999	0.547000	0.28938	0.591000	0.81541	CGC		0.677	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393840.1	NM_004188		3	29	0	0	0	1	0	3	29					A	135865148	G	A	135865148	3	1	187	1	0	0	0	0	1	0	0	0	6340	1087	38	1	686	1	GFI1B	9	135865148	Missense_Mutation	SNP	G	TCGA-E8-A437-01A-12D-A23U-08		135865148	5348283	6	3925											
SLIT1	6585	broad.mit.edu	37	chr10	98806446	98806446	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagaccccggaacatgccGctccggatggactccagctg	11	16	0	1	rs527636768		TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr10:98806446G>A	ENST00000266058.4	-	18	2063	c.1818C>T	c.(1816-1818)agC>agT	p.S606S	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.S606S	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	606					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGAACATGCCGCTCCGGATGG	0.617													G|||	1	0.000199681	8e-04	0	5008	,	,		18592	0		0	False		,,,				2504	0					ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(1816-1818)agC>agT		slit homolog 1 (Drosophila)							52	43	46					10																	98806446		2203	4300	6503	SO:0001819	synonymous_variant	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98806446G>A	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"slit (Drosophila) homolog 1"	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.1818C>T	10.37:g.98806446G>A						SLIT1_ENST00000371070.4_Silent_p.S606S|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	p.S606S	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	18	2063	-		Colorectal(252;0.162)	606					Q5T0V1|Q8WWZ2|Q9UIL7	Silent	SNP	ENST00000266058.4	37	c.1818C>T	CCDS7453.1																																																																																				0.617	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		14	23	0	0	0	1	0	14	23					A	98806446	G	A	98806446	2	1	187	1	0	0	0	0	0	0	0	1	14739	1078	38	1		1	SLIT1	10	98806446	Silent	SNP	G	TCGA-E8-A437-01A-12D-A23U-08		98806446	36728301	7	3926											
RSF1	51773	broad.mit.edu	37	chr11	77412844	77412844	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctccgtgatgatatttctgTccttagaggggctatagctc	10	10	1	3			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr11:77412844T>C	ENST00000308488.6	-	6	1732	c.1430A>G	c.(1429-1431)gAc>gGc	p.D477G	RSF1_ENST00000480887.1_Missense_Mutation_p.D225G|RSF1_ENST00000360355.2_Missense_Mutation_p.D446G			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	477					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			GATATTTCTGTCCTTAGAGGG	0.403																																						ENST00000308488.6																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(1429-1431)gAc>gGc		remodeling and spacing factor 1							122	120	121					11																	77412844		2200	4292	6492	SO:0001583	missense	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77412844T>C	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"Zinc fingers, PHD-type"	18118	protein-coding gene	gene with protein product		608522	"hepatitis B virus x associated protein"	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.1430A>G	11.37:g.77412844T>C	ENSP00000311513:p.Asp477Gly					RSF1_ENST00000480887.1_Missense_Mutation_p.D225G|RSF1_ENST00000360355.2_Missense_Mutation_p.D446G	p.D477G			Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		6	1732	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		477					Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	ENST00000308488.6	37	c.1430A>G	CCDS8253.1	.	.	.	.	.	.	.	.	.	.	T	13.42	2.232874	0.39498	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355;ENST00000526324;ENST00000528095	D;D;D;D;T	0.86627	-2.12;-2.14;-2.12;-2.15;1.28	5.54	3.23	0.37069	.	0.339854	0.25469	N	0.030443	T	0.79695	0.4490	L	0.32530	0.975	0.39706	D	0.971252	B	0.12630	0.006	B	0.09377	0.004	T	0.73043	-0.4107	10	0.66056	D	0.02	-3.853	9.66	0.39950	0.0:0.1338:0.0:0.8662	.	477	Q96T23	RSF1_HUMAN	G	477;225;446;278;476	ENSP00000311513:D477G;ENSP00000434509:D225G;ENSP00000353511:D446G;ENSP00000432022:D278G;ENSP00000436408:D476G	ENSP00000311513:D477G	D	-	2	0	RSF1	77090492	0.998000	0.40836	0.516000	0.27786	0.969000	0.65631	2.552000	0.45828	0.411000	0.25702	0.533000	0.62120	GAC		0.403	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		23	51	0	0	0	1	0	23	51					C	77412844	T	C	77412844	3	2	187	1	0	0	0	0	1	0	0	0	13699	1667	58	3	2939	3	RSF1	11	77412844	Missense_Mutation	SNP	T	TCGA-E8-A437-01A-12D-A23U-08		77412844	57593672	8	3927											
PDZRN4	29951	broad.mit.edu	37	chr12	41966816	41966816	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaacacagctgagagctgCagaagtactccgctcactgt	9	12	1	2			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr12:41966816C>T	ENST00000402685.2	+	10	2243	c.2235C>T	c.(2233-2235)tgC>tgT	p.C745C	PDZRN4_ENST00000539469.2_Silent_p.C487C|PDZRN4_ENST00000298919.7_Silent_p.C485C	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	745							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CTGAGAGCTGCAGAAGTACTC	0.483																																						ENST00000298919.7																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(1453-1455)tgC>tgT		PDZ domain containing ring finger 4							106	104	105					12																	41966816		2203	4300	6503	SO:0001819	synonymous_variant	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41966816C>T	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"RING-type (C3HC4) zinc fingers"	30552	protein-coding gene	gene with protein product	"similar to semaF cytoplasmic domain associated protein 3"	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2235C>T	12.37:g.41966816C>T						PDZRN4_ENST00000402685.2_Silent_p.C745C|PDZRN4_ENST00000539469.2_Silent_p.C487C	p.C485C			Q6ZMN7	PZRN4_HUMAN			10	1843	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	745			PDZ 2.		Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Silent	SNP	ENST00000402685.2	37	c.1455C>T	CCDS53777.1																																																																																				0.483	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		39	60	0	0	0	1	0	39	60					T	41966816	C	T	41966816	2	4	187	1	0	0	0	0	0	0	0	1	11710	718	25	2		2	PDZRN4	12	41966816	Silent	SNP	C	TCGA-E8-A437-01A-12D-A23U-08		41966816	91885079	9	3928											
SLC12A6	9990	broad.mit.edu	37	chr15	34549844	34549844	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagccagtgcagtacttacaCagcagcagcagataaggaca	11	10	0	1			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr15:34549844C>A	ENST00000354181.3	-	6	1181	c.689G>T	c.(688-690)tGt>tTt	p.C230F	SLC12A6_ENST00000451844.2_Intron|SLC12A6_ENST00000397702.2_Splice_Site_p.C171F|SLC12A6_ENST00000558589.1_Splice_Site_p.C221F|SLC12A6_ENST00000558667.1_Splice_Site_p.C230F|SLC12A6_ENST00000560611.1_Splice_Site_p.C230F|RP11-1084A12.2_ENST00000559867.1_RNA|SLC12A6_ENST00000290209.5_Splice_Site_p.C179F|SLC12A6_ENST00000458406.2_Splice_Site_p.C171F|SLC12A6_ENST00000397707.2_Splice_Site_p.C215F|SLC12A6_ENST00000560164.1_Intron			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	230	Poly-Cys.				angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	AGTACTTACACAGCAGCAGCA	0.438																																						ENST00000354181.3																			0				central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45						c.e6+1		solute carrier family 12 (potassium/chloride transporter), member 6	Potassium Chloride(DB00761)						75	66	69					15																	34549844		2201	4298	6499	SO:0001630	splice_region_variant	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34549844C>A	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"Solute carriers"	10914	protein-coding gene	gene with protein product		604878	"agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.690+1G>T	15.37:g.34549844C>A						SLC12A6_ENST00000560611.1_Splice_Site_p.C230_splice|SLC12A6_ENST00000451844.2_Intron|SLC12A6_ENST00000558589.1_Splice_Site_p.C221_splice|SLC12A6_ENST00000558667.1_Splice_Site_p.C230_splice|SLC12A6_ENST00000458406.2_Splice_Site_p.C171_splice|SLC12A6_ENST00000397702.2_Splice_Site_p.C171_splice|SLC12A6_ENST00000397707.2_Splice_Site_p.C215_splice|SLC12A6_ENST00000290209.5_Splice_Site_p.C179_splice|SLC12A6_ENST00000560164.1_Intron|RP11-1084A12.2_ENST00000559867.1_RNA	p.C230_splice			Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	6	1181	-		all_lung(180;2.78e-08)	230			Poly-Cys.		A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Splice_Site	SNP	ENST00000354181.3	37	c.690_splice	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931477	0.92389	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406	D;D;D;D	0.98684	-5.07;-5.07;-5.07;-5.07	5.55	5.55	0.83447	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99242	0.9736	M	0.89095	3.005	0.80722	D	1	D;D;D	0.69078	0.99;0.997;0.978	P;D;D	0.70227	0.906;0.968;0.936	D	0.99406	1.0929	10	0.87932	D	0	.	18.4345	0.90640	0.0:1.0:0.0:0.0	.	215;230;179	Q9UHW9-3;Q9UHW9;A0AV76	.;S12A6_HUMAN;.	F	179;215;221;171;171	ENSP00000290209:C179F;ENSP00000380819:C215F;ENSP00000380814:C171F;ENSP00000387725:C171F	ENSP00000290209:C179F	C	-	2	0	SLC12A6	32337136	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.651000	0.83577	2.885000	0.99019	0.655000	0.94253	TGT		0.438	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135	Missense_Mutation	7	17	1	0	1.26484e-09	1	1.26484e-09	7	17					A	34549844	C	A	34549844	5	1	187	1	0	0	0	0	0	0	1	0	14387	492	17	4	2847	4	SLC12A6	15	34549844	Splice_Site	SNP	C	TCGA-E8-A437-01A-12D-A23U-08		34549844	67981548	10	3929											
MYO5A	4644	broad.mit.edu	37	chr15	52652211	52652211	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctgcaatttcagagctaAagatatattcagactcgttg	7	7	3	3	rs199984961	byFrequency	TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr15:52652211A>C	ENST00000399231.3	-	25	3620	c.3377T>G	c.(3376-3378)tTt>tGt	p.F1126C	MYO5A_ENST00000399233.2_Missense_Mutation_p.F1126C|MYO5A_ENST00000356338.6_Missense_Mutation_p.F1126C|MYO5A_ENST00000553916.1_Missense_Mutation_p.F1126C|MYO5A_ENST00000358212.6_Missense_Mutation_p.F1126C	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1126					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TTCAGAGCTAAAGATATATTC	0.428													A|||	4	0.000798722	0	0.0043	5008	,	,		20616	0		0.001	False		,,,				2504	0					ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(3376-3378)tTt>tGt		myosin VA (heavy chain 12, myoxin)		A	CYS/PHE,CYS/PHE	0,3914		0,0,1957	95	92	93		3377,3377	5.8	1.0	15		93	8,8306		0,8,4149	yes	missense,missense	MYO5A	NM_000259.3,NM_001142495.1	205,205	0,8,6106	CC,CA,AA		0.0962,0.0,0.0654	possibly-damaging,possibly-damaging	1126/1856,1126/1829	52652211	8,12220	1957	4157	6114	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52652211A>C		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"Myosins / Myosin superfamily : Class V"	7602	protein-coding gene	gene with protein product	"myosin, heavy polypeptide kinase", "myosin heavy chain 12", "myoxin", "myosin V"	160777	"myosin VA (heavy polypeptide 12, myoxin)"	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.3377T>G	15.37:g.52652211A>C	ENSP00000382177:p.Phe1126Cys					MYO5A_ENST00000399233.2_Missense_Mutation_p.F1126C|MYO5A_ENST00000553916.1_Missense_Mutation_p.F1126C|MYO5A_ENST00000356338.6_Missense_Mutation_p.F1126C|MYO5A_ENST00000358212.6_Missense_Mutation_p.F1126C	p.F1126C	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	25	3620	-			1126					A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.3377T>G	CCDS42037.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	A	16.77	3.214238	0.58452	0.0	9.62E-4	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01	5.78	5.78	0.91487	.	0.053652	0.85682	D	0.000000	T	0.15652	0.0377	N	0.08118	0	0.49687	D	0.999814	P;P	0.48230	0.901;0.907	P;P	0.48227	0.571;0.517	T	0.08764	-1.0706	10	0.38643	T	0.18	.	11.82	0.52232	0.8689:0.0:0.0:0.1311	.	1126;1126	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	C	1126;660;1126;1126;1126;756;1126	ENSP00000382177:F1126C;ENSP00000382179:F1126C;ENSP00000348693:F1126C;ENSP00000350945:F1126C;ENSP00000451109:F1126C	ENSP00000348693:F1126C	F	-	2	0	MYO5A	50439503	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	4.418000	0.59828	2.205000	0.71048	0.533000	0.62120	TTT		0.428	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		12	10	0	0	0	1	0	12	10					C	52652211	A	C	52652211	3	2	187	1	0	0	0	0	1	0	0	0	10078	14	1	5	2258	5	MYO5A	15	52652211	Missense_Mutation	SNP	A	TCGA-E8-A437-01A-12D-A23U-08	18102367	52652211	49879181	11	3930											
ST3GAL2	6483	broad.mit.edu	37	chr16	70432116	70432116	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccaccacctctggacgtcCggtggaagatccatgttctc	9	14	2	1	rs375363834		TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr16:70432116C>T	ENST00000393640.4	-	1	2425	c.318G>A	c.(316-318)ccG>ccA	p.P106P	ST3GAL2_ENST00000566097.1_5'Flank|ST3GAL2_ENST00000342907.2_Silent_p.P106P|RP11-529K1.4_ENST00000566960.1_RNA			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	106					amino sugar metabolic process (GO:0006040)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				TCTGGACGTCCGGTGGAAGAT	0.597																																						ENST00000393640.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11						c.(316-318)ccG>ccA		ST3 beta-galactoside alpha-2,3-sialyltransferase 2		G		1,4395	2.1+/-5.4	0,1,2197	58	54	56		318	-8.9	0.5	16		56	0,8600		0,0,4300	no	coding-synonymous	ST3GAL2	NM_006927.3		0,1,6497	TT,TC,CC		0.0,0.0227,0.0077		106/351	70432116	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	6483				amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr16:70432116C>T	U63090	CCDS10890.1	16q22.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000157350	ENSG00000157350	2.4.99.4	"Sialyltransferases"	10863	protein-coding gene	gene with protein product		607188	"sialyltransferase 4B (beta-galactosidase alpha-2,3-sialytransferase)"	SIAT4B		9266697, 8920913	Standard	NM_006927		Approved	ST3GALII, ST3GalA.2	uc002eyx.2	Q16842	OTTHUMG00000137580	ENST00000393640.4:c.318G>A	16.37:g.70432116C>T						RP11-529K1.4_ENST00000566960.1_RNA|ST3GAL2_ENST00000342907.2_Silent_p.P106P	p.P106P			Q16842	SIA4B_HUMAN			1	2425	-		Ovarian(137;0.0694)	106					O00654	Silent	SNP	ENST00000393640.4	37	c.318G>A	CCDS10890.1																																																																																				0.597	ST3GAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268968.1	NM_006927		3	51	0	0	0	1	0	3	51					T	70432116	C	T	70432116	2	4	187	1	0	0	0	0	0	0	0	1	15214	639	23	1		1	ST3GAL2	16	70432116	Silent	SNP	C	TCGA-E8-A437-01A-12D-A23U-08		70432116	19922637	12	3931											
ALPK2	115701	broad.mit.edu	37	chr18	56246284	56246284	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcttttatcactctgggttAgtgggggctcagcagattct	11	9	5	1			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr18:56246284A>G	ENST00000361673.3	-	4	1937	c.1724T>C	c.(1723-1725)cTa>cCa	p.L575P	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	575						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ACTCTGGGTTAGTGGGGGCTC	0.498											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(1723-1725)cTa>cCa		alpha-kinase 2							98	88	91					18																	56246284		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56246284A>G	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1724T>C	18.37:g.56246284A>G	ENSP00000354991:p.Leu575Pro		OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014	ALPK2_ENST00000587399.1_5'UTR	p.L575P	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			4	1937	-			575					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.1724T>C	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	A	15.31	2.796533	0.50208	.	.	ENSG00000198796	ENST00000361673	T	0.55234	0.53	5.76	0.506	0.16961	.	2.381610	0.02710	N	0.112745	T	0.48822	0.1521	L	0.55990	1.75	0.19575	N	0.999969	B	0.22851	0.076	B	0.20577	0.03	T	0.34976	-0.9807	10	0.66056	D	0.02	0.1959	5.6533	0.17629	0.5936:0.2701:0.1363:0.0	.	575	Q86TB3	ALPK2_HUMAN	P	575	ENSP00000354991:L575P	ENSP00000354991:L575P	L	-	2	0	ALPK2	54397264	0.002000	0.14202	0.000000	0.03702	0.043000	0.13939	0.253000	0.18296	-0.124000	0.11724	0.533000	0.62120	CTA		0.498	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		30	63	0	0	0	1	0	30	63					G	56246284	A	G	56246284	3	3	187	1	0	0	0	0	1	0	0	0	545	420	15	3	4828	3	ALPK2	18	56246284	Missense_Mutation	SNP	A	TCGA-E8-A437-01A-12D-A23U-08		56246284	21830964	13	3932											
PNPLA6	10908	broad.mit.edu	37	chr19	7622115	7622115	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctacctgcccccgctgtgCgaccccaaggacgggcacct	12	18	0	0			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr19:7622115C>T	ENST00000221249.6	+	30	3659	c.3228C>T	c.(3226-3228)tgC>tgT	p.C1076C	PNPLA6_ENST00000545201.2_Silent_p.C1049C|PNPLA6_ENST00000600737.1_Silent_p.C1114C|PNPLA6_ENST00000450331.3_Silent_p.C1076C|PNPLA6_ENST00000414982.3_Silent_p.C1124C	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1115	Patatin.				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						CCCCGCTGTGCGACCCCAAGG	0.662																																						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.(3226-3228)tgC>tgT		patatin-like phospholipase domain containing 6							59	51	54					19																	7622115		2203	4299	6502	SO:0001819	synonymous_variant	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7622115C>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.3228C>T	19.37:g.7622115C>T						PNPLA6_ENST00000600737.1_Silent_p.C1114C|PNPLA6_ENST00000545201.2_Silent_p.C1049C|PNPLA6_ENST00000450331.3_Silent_p.C1076C|PNPLA6_ENST00000414982.3_Silent_p.C1124C	p.C1076C	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN			30	3659	+			1115			Patatin.		A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Silent	SNP	ENST00000221249.6	37	c.3228C>T	CCDS32891.1																																																																																				0.662	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		3	44	0	0	0	1	0	3	44					T	7622115	C	T	7622115	2	4	187	1	0	0	0	0	0	0	0	1	12169	776	27	1		1	PNPLA6	19	7622115	Silent	SNP	C	TCGA-E8-A437-01A-12D-A23U-08		7622115	51506868	14	3933											
ZNF573	126231	broad.mit.edu	37	chr19	38230588	38230588	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tatatggtttttcgccagtaTgaactctctgatgaattcta	7	7	2	3			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr19:38230588T>A	ENST00000590414.2	-	4	824	c.803A>T	c.(802-804)cAt>cTt	p.H268L	ZNF573_ENST00000536220.1_Missense_Mutation_p.H180L|ZNF573_ENST00000392138.1_Missense_Mutation_p.H181L|ZNF573_ENST00000339503.4_Missense_Mutation_p.H210L|ZNF573_ENST00000357309.3_Missense_Mutation_p.H180L			Q86YE8	ZN573_HUMAN	zinc finger protein 573	268					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TTCGCCAGTATGAACTCTCTG	0.433																																						ENST00000339503.4																			0				NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(628-630)cAt>cTt		zinc finger protein 573							116	111	113					19																	38230588		2203	4300	6503	SO:0001583	missense	126231				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38230588T>A	AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"Zinc fingers, C2H2-type", "-"	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000590414.2:c.803A>T	19.37:g.38230588T>A	ENSP00000465020:p.His268Leu					ZNF573_ENST00000392138.1_Missense_Mutation_p.H181L|ZNF573_ENST00000357309.3_Missense_Mutation_p.H180L|ZNF573_ENST00000536220.1_Missense_Mutation_p.H180L|ZNF573_ENST00000590414.2_Missense_Mutation_p.H268L	p.H210L	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)		8	1130	-			248					B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	Missense_Mutation	SNP	ENST00000590414.2	37	c.629A>T	CCDS59381.1	.	.	.	.	.	.	.	.	.	.	T	14.99	2.699348	0.48307	.	.	ENSG00000189144	ENST00000392138;ENST00000536220;ENST00000357309;ENST00000339503;ENST00000427026	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	2.33	2.33	0.28932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.85141	0.5629	H	0.96633	3.855	0.30386	N	0.78146	D;D;D;D	0.76494	0.998;0.998;0.999;0.998	D;P;D;P	0.67382	0.951;0.904;0.942;0.904	T	0.81523	-0.0894	9	0.87932	D	0	.	9.0479	0.36358	0.0:0.0:0.0:1.0	.	181;210;248;180	Q86YE8-4;Q86YE8-3;Q86YE8;Q86YE8-2	.;.;ZN573_HUMAN;.	L	181;180;180;210;180	ENSP00000375983:H181L;ENSP00000440464:H180L;ENSP00000349861:H180L;ENSP00000340171:H210L	ENSP00000340171:H210L	H	-	2	0	ZNF573	42922428	1.000000	0.71417	0.999000	0.59377	0.898000	0.52572	4.839000	0.62810	0.935000	0.37341	0.477000	0.44152	CAT		0.433	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459773.2	NM_152360		37	68	0	0	0	1	0	37	68					A	38230588	T	A	38230588	3	1	187	1	0	0	0	0	1	0	0	0	18002	1464	51	5	1198	5	ZNF573	19	38230588	Missense_Mutation	SNP	T	TCGA-E8-A437-01A-12D-A23U-08	30608473	38230588	20898395	15	3934											
VSTM1	284415	broad.mit.edu	37	chr19	54545172	54545172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttcccctgtcccttaccgGcagcctcctgctccggaagt	8	18	0	0			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr19:54545172G>A	ENST00000338372.2	-	7	726	c.551C>T	c.(550-552)gCc>gTc	p.A184V	VSTM1_ENST00000376626.1_Missense_Mutation_p.A153V|VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000366170.2_Missense_Mutation_p.A96V	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	184					immune system process (GO:0002376)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		TCCCTTACCGGCAGCCTCCTG	0.478																																						ENST00000338372.2																			0				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(550-552)gCc>gTc		V-set and transmembrane domain containing 1							59	60	60					19																	54545172		2203	4300	6503	SO:0001583	missense	284415					integral to membrane		g.chr19:54545172G>A	AY358542	CCDS12872.1, CCDS74441.1, CCDS74442.1	19q13.42	2013-01-11			ENSG00000189068	ENSG00000189068		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29455	protein-coding gene	gene with protein product						12975309	Standard	NM_198481		Approved	UNQ3033	uc002qcw.4	Q6UX27	OTTHUMG00000064906	ENST00000338372.2:c.551C>T	19.37:g.54545172G>A	ENSP00000343366:p.Ala184Val					VSTM1_ENST00000376626.1_Missense_Mutation_p.A153V|VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000366170.2_Missense_Mutation_p.A96V	p.A184V	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN		GBM - Glioblastoma multiforme(134;0.165)	7	726	-	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		184					B6A8C6|D2DJS3|D2DJS4|Q496B6|Q496B7	Missense_Mutation	SNP	ENST00000338372.2	37	c.551C>T	CCDS12872.1	.	.	.	.	.	.	.	.	.	.	G	7.669	0.686596	0.14973	.	.	ENSG00000189068	ENST00000419106;ENST00000338372;ENST00000376626;ENST00000366170	T;T;T;T	0.48522	2.65;6.78;6.45;0.81	2.63	0.382	0.16234	.	2.851890	0.01693	U	0.026742	T	0.23210	0.0561	N	0.19112	0.55	0.20489	N	0.999892	B;P	0.35575	0.267;0.51	B;B	0.19666	0.026;0.026	T	0.16837	-1.0389	10	0.02654	T	1	.	3.9453	0.09346	0.1454:0.2489:0.6057:0.0	.	153;184	D2DJS4;Q6UX27	.;VSTM1_HUMAN	V	74;184;153;96	ENSP00000409412:A74V;ENSP00000343366:A184V;ENSP00000365813:A153V;ENSP00000444153:A96V	ENSP00000343366:A184V	A	-	2	0	VSTM1	59236984	0.004000	0.15560	0.005000	0.12908	0.004000	0.04260	0.342000	0.19926	0.196000	0.20367	0.638000	0.83543	GCC		0.478	VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139358.3	NM_198481		3	45	0	0	0	1	0	3	45					A	54545172	G	A	54545172	3	1	187	1	0	0	0	0	1	0	0	0	17225	1203	42	2	171	2	VSTM1	19	54545172	Missense_Mutation	SNP	G	TCGA-E8-A437-01A-12D-A23U-08	16314584	54545172	4583811	16	3935											
ITPA	3704	broad.mit.edu	37	chr20	3204049	3204049	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcggagaagaacgctgtcTcccatcgcttccgggccctg	13	14	1	2			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr20:3204049T>G	ENST00000380113.3	+	8	718	c.526T>G	c.(526-528)Tcc>Gcc	p.S176A	ITPA_ENST00000399838.3_Missense_Mutation_p.S135A|ITPA_ENST00000483354.1_3'UTR|ITPA_ENST00000455664.2_Missense_Mutation_p.S159A	NM_033453.3|NM_181493.2	NP_258412.1|NP_852470.1			inosine triphosphatase (nucleoside triphosphate pyrophosphatase)											autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						GAACGCTGTCTCCCATCGCTT	0.617																																						ENST00000380113.3																			0				autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						c.(526-528)Tcc>Gcc		inosine triphosphatase (nucleoside triphosphate pyrophosphatase)							65	49	54					20																	3204049		2203	4300	6503	SO:0001583	missense	3704				nucleotide metabolic process	cytoplasm	metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding	g.chr20:3204049T>G	AF026816	CCDS13051.1, CCDS46576.1, CCDS58762.1	20p	2002-02-01			ENSG00000125877	ENSG00000125877	3.6.1.19		6176	protein-coding gene	gene with protein product		147520		C20orf37		11278832	Standard	NM_033453		Approved	HLC14-06-P, dJ794I6.3	uc002wid.4	Q9BY32	OTTHUMG00000031738	ENST00000380113.3:c.526T>G	20.37:g.3204049T>G	ENSP00000369456:p.Ser176Ala					ITPA_ENST00000483354.1_3'UTR|ITPA_ENST00000455664.1_Missense_Mutation_p.S159A|ITPA_ENST00000399838.3_Missense_Mutation_p.S135A	p.S176A	NM_033453.3	NP_258412.1	Q9BY32	ITPA_HUMAN			8	718	+			176						Missense_Mutation	SNP	ENST00000380113.3	37	c.526T>G	CCDS13051.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.052321	0.75960	.	.	ENSG00000125877	ENST00000380113;ENST00000455664;ENST00000399838	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.91656	0.7363	H	0.99937	4.99	0.49213	D	0.999763	D;D	0.89917	0.999;1.0	D;D	0.97110	1.0;0.999	D	0.94624	0.7816	9	0.87932	D	0	.	12.574	0.56354	0.0:0.0:0.0:1.0	.	159;176	B2BCH7;Q9BY32	.;ITPA_HUMAN	A	176;159;135	.	ENSP00000369456:S176A	S	+	1	0	ITPA	3152049	1.000000	0.71417	0.999000	0.59377	0.535000	0.34838	5.851000	0.69481	2.225000	0.72522	0.460000	0.39030	TCC		0.617	ITPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077719.2			7	28	0	0	0	1	0	7	28					G	3204049	T	G	3204049	3	3	187	1	0	0	0	0	1	0	0	0	7915	1551	54	5	556	5	ITPA	20	3204049	Missense_Mutation	SNP	T	TCGA-E8-A437-01A-12D-A23U-08		3204049	59821471	17	3936											
BEND2	139105	broad.mit.edu	37	chrX	18234789	18234789	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttatctgctgtttcagaaacTtccaccatctcaatactgca	4	12	3	1			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chrX:18234789T>A	ENST00000380033.4	-	2	222	c.90A>T	c.(88-90)gaA>gaT	p.E30D	BEND2_ENST00000380030.3_Missense_Mutation_p.E30D	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	30										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TTTCAGAAACTTCCACCATCT	0.358																																						ENST00000380033.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						c.(88-90)gaA>gaT		BEN domain containing 2							191	146	161					X																	18234789		2203	4300	6503	SO:0001583	missense	139105							g.chrX:18234789T>A	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"BEN domain containing"	28509	protein-coding gene	gene with protein product			"chromosome X open reading frame 20"	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.90A>T	X.37:g.18234789T>A	ENSP00000369372:p.Glu30Asp					BEND2_ENST00000380030.3_Missense_Mutation_p.E30D	p.E30D	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN			2	222	-			30					E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	c.90A>T	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	t	11.43	1.636762	0.29068	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.24723	1.87;1.84	3.17	-2.6	0.06190	.	346.429000	0.00166	N	0.000000	T	0.13927	0.0337	N	0.19112	0.55	0.09310	N	1	B;B	0.34290	0.447;0.447	B;B	0.23018	0.043;0.043	T	0.16897	-1.0387	10	0.87932	D	0	-2.3967	4.0961	0.09991	0.0:0.3366:0.4091:0.2543	.	30;30	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	D	30	ENSP00000369372:E30D;ENSP00000369369:E30D	ENSP00000369369:E30D	E	-	3	2	BEND2	18144710	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.710000	0.05024	-0.640000	0.05495	0.414000	0.27820	GAA		0.358	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		6	51	0	0	0	1	0	6	51					A	18234789	T	A	18234789	3	1	187	1	0	0	0	0	1	0	0	0	1398	1606	56	5	2387	5	BEND2	23	18234789	Missense_Mutation	SNP	T	TCGA-E8-A437-01A-12D-A23U-08		18234789	137035771	18	3937											
SYTL5	94122	broad.mit.edu	37	chrX	37931394	37931394	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcactgatgttgtccgacagTccattttaagaagaagtcca	9	9	0	3			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chrX:37931394T>A	ENST00000357972.5	+	4	970	c.424T>A	c.(424-426)Tcc>Acc	p.S142T	TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.S142T|SYTL5_ENST00000456733.2_Missense_Mutation_p.S142T			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	142					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						TGTCCGACAGTCCATTTTAAG	0.373																																						ENST00000357972.5																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						c.(424-426)Tcc>Acc		synaptotagmin-like 5							152	128	136					X																	37931394		2202	4300	6502	SO:0001583	missense	94122				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding	g.chrX:37931394T>A		CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"exophilin 9"						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.424T>A	X.37:g.37931394T>A	ENSP00000350657:p.Ser142Thr					SYTL5_ENST00000456733.2_Missense_Mutation_p.S142T|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.S142T	p.S142T			Q8TDW5	SYTL5_HUMAN			4	970	+			142					A2RRF2	Missense_Mutation	SNP	ENST00000357972.5	37	c.424T>A	CCDS14244.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.045442	0.75846	.	.	ENSG00000147041	ENST00000297875;ENST00000357972;ENST00000456733	T;T;T	0.26067	1.76;1.76;2.1	5.33	5.33	0.75918	.	0.113104	0.64402	D	0.000007	T	0.54046	0.1834	M	0.86178	2.8	0.32074	N	0.594001	D;D	0.89917	0.966;1.0	B;D	0.76071	0.395;0.987	T	0.67860	-0.5561	10	0.49607	T	0.09	-9.136	13.4248	0.61020	0.0:0.0:0.0:1.0	.	142;142	A2RRF2;Q8TDW5	.;SYTL5_HUMAN	T	142	ENSP00000297875:S142T;ENSP00000350657:S142T;ENSP00000395220:S142T	ENSP00000297875:S142T	S	+	1	0	SYTL5	37816338	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.114000	0.64648	1.882000	0.54519	0.417000	0.27973	TCC		0.373	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780		8	71	0	0	0	1	0	8	71					A	37931394	T	A	37931394	3	1	187	1	0	0	0	0	1	0	0	0	15483	1667	58	5	434	5	SYTL5	23	37931394	Missense_Mutation	SNP	T	TCGA-E8-A437-01A-12D-A23U-08	19696605	37931394	117339166	19	3938											
ALG13	79868	broad.mit.edu	37	chrX	110951452	110951452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttgccacgctttttttcCtctccctcttacccccaccc	2	21	3	0			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chrX:110951452C>T	ENST00000394780.3	+	4	593	c.581C>T	c.(580-582)cCt>cTt	p.P194L	ALG13-AS1_ENST00000430794.1_RNA|ALG13_ENST00000251943.4_Missense_Mutation_p.P90L	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	194	Deubiquitinase activity.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						GCTTTTTTTCCTCTCCCTCTT	0.473																																						ENST00000394780.3																			0				endometrium(2)|lung(10)|skin(1)	13						c.(580-582)cCt>cTt		ALG13, UDP-N-acetylglucosaminyltransferase subunit							125	105	111					X																	110951452		1568	3582	5150	SO:0001583	missense	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:110951452C>T	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"Tudor domain containing", "OTU domain containing"	30881	protein-coding gene	gene with protein product	"tudor domain containing 13", "N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"	300776	"glycosyltransferase 28 domain containing 1", "chromosome X open reading frame 45", "asparagine-linked glycosylation 13 homolog (S. cerevisiae)"	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.581C>T	X.37:g.110951452C>T	ENSP00000378260:p.Pro194Leu					ALG13_ENST00000251943.4_Missense_Mutation_p.P90L|ALG13-AS1_ENST00000430794.1_RNA	p.P194L	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN			4	593	+			194					B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	ENST00000394780.3	37	c.581C>T	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	C	7.200	0.593195	0.13875	.	.	ENSG00000101901	ENST00000251943;ENST00000486353;ENST00000394780;ENST00000495283	T;T;T;T	0.76968	1.57;-1.06;0.6;1.57	5.03	1.88	0.25563	.	.	.	.	.	T	0.51719	0.1691	N	0.08118	0	0.09310	N	1	B;B;B	0.15473	0.013;0.008;0.013	B;B;B	0.21917	0.037;0.016;0.022	T	0.38265	-0.9669	9	0.07030	T	0.85	.	4.8818	0.13683	0.1992:0.595:0.0:0.2058	.	116;194;90	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	L	90;194;194;90	ENSP00000251943:P90L;ENSP00000426892:P194L;ENSP00000378260:P194L;ENSP00000427093:P90L	ENSP00000251943:P90L	P	+	2	0	ALG13	110838108	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.314000	0.19432	0.063000	0.16370	-1.178000	0.01721	CCT		0.473	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		6	70	0	0	0	1	0	6	70					T	110951452	C	T	110951452	3	4	187	1	0	0	0	0	1	0	0	0	515	681	24	2	737	2	ALG13	23	110951452	Missense_Mutation	SNP	C	TCGA-E8-A437-01A-12D-A23U-08	73020058	110951452	44319108	20	3939											
PRAMEF2	65122	broad.mit.edu	37	chr1	12920020	12920020	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagataatgaactcgagggaTggttagtcaccagattcacc	10	9	2	3	rs3204810		TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr1:12920020T>C	ENST00000240189.2	+	3	847	c.760T>C	c.(760-762)Tgg>Cgg	p.W254R		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	254					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCGAGGGATGGTTAGTCAC	0.438																																						ENST00000240189.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42						c.(760-762)Tgg>Cgg		PRAME family member 2							107	106	106					1																	12920020		2202	4293	6495	SO:0001583	missense	65122							g.chr1:12920020T>C		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.760T>C	1.37:g.12920020T>C	ENSP00000240189:p.Trp254Arg						p.W254R	NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	847	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	254						Missense_Mutation	SNP	ENST00000240189.2	37	c.760T>C	CCDS149.1	.	.	.	.	.	.	.	.	.	.	t	0.032	-1.328609	0.01298	.	.	ENSG00000120952	ENST00000240189	T	0.00848	5.62	0.842	-1.68	0.08212	.	0.973308	0.08426	N	0.947639	T	0.00328	0.0010	N	0.00260	-1.75	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43589	-0.9382	10	0.22706	T	0.39	.	5.7964	0.18389	0.0:0.7569:0.0:0.2431	rs3204810	254	O60811	PRAM2_HUMAN	R	254	ENSP00000240189:W254R	ENSP00000240189:W254R	W	+	1	0	PRAMEF2	12842607	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.131000	0.01311	-0.633000	0.05545	-2.717000	0.00132	TGG		0.438	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		7	150	0	0	0	1	0	7	150					C	12920020	T	C	12920020	3	2	188	1	0	0	0	0	1	0	0	0	12435	1464	51	3	766	3	PRAMEF2	1	12920020	Missense_Mutation	SNP	T	TCGA-E8-A438-01A-11D-A23U-08		12920020	236330601	1	3940											
RPTN	126638	broad.mit.edu	37	chr1	152127881	152127884	+	Frame_Shift_Del	DEL	TGTC	TGTC	-													cataatgatagctctggcctTgtctgtctgtctgaccgtag							TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr1:152127881_152127884delTGTC	ENST00000316073.3	-	3	1755_1758	c.1691_1694delGACA	c.(1690-1695)agacaafs	p.RQ564fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	564	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GCTCTGGCCTTGTCTGTCTGTCTG	0.485																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1690-1695)aafs		repetin																																				SO:0001589	frameshift_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152127881_152127884delTGTC	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1691_1694delGACA	1.37:g.152127889_152127892delTGTC	ENSP00000317895:p.Arg564fs						p.RQ564fs	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1755_1758	-			564			Gln-rich.		B7ZBZ3	Frame_Shift_Del	DEL	ENST00000316073.3	37	c.1691_1694delGACA	CCDS41397.1																																																																																				0.485	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		7	1101						7	1101	---	---	---	---	-	152127884	TGTC	-	152127881	7	5	188	1	0	1	0	1	0	0	0	0	13664	1812	63	0	664	0	RPTN	1	152127881	Frame_Shift_Del	DEL	TGTC	TCGA-E8-A438-01A-11D-A23U-08	139207861	152127881	97122740	2	3941											
FCRL3	115352	broad.mit.edu	37	chr1	157665945	157665945	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaacatgcagctctgccaaCagggaacgctgggtctttct	11	11	3	1			TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr1:157665945C>T	ENST00000368184.3	-	7	1308	c.1017G>A	c.(1015-1017)ctG>ctA	p.L339L	RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.L339L	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	339	Ig-like C2-type 4.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GCTCTGCCAACAGGGAACGCT	0.522																																						ENST00000368184.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69						c.(1015-1017)ctG>ctA		Fc receptor-like 3							138	122	127					1																	157665945		2203	4300	6503	SO:0001819	synonymous_variant	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157665945C>T	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1017G>A	1.37:g.157665945C>T						FCRL3_ENST00000368186.5_Silent_p.L339L|FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA	p.L339L	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN			7	1308	-	all_hematologic(112;0.0378)		339			Ig-like C2-type 4.		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Silent	SNP	ENST00000368184.3	37	c.1017G>A	CCDS1167.1																																																																																				0.522	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		26	70	0	0	0	1	0	26	70					T	157665945	C	T	157665945	2	4	188	1	0	0	0	0	0	0	0	1	5796	465	17	2		2	FCRL3	1	157665945	Silent	SNP	C	TCGA-E8-A438-01A-11D-A23U-08	5538064	157665945	91584676	3	3942											
IFT122	55764	broad.mit.edu	37	chr3	129221571	129221571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggttgatcgacatcgcccGcaaactggacaaggctgagc	12	12	0	2			TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr3:129221571G>A	ENST00000348417.2	+	20	2470	c.2393G>A	c.(2392-2394)cGc>cAc	p.R798H	IFT122_ENST00000504021.1_Missense_Mutation_p.R674H|IFT122_ENST00000347300.2_Missense_Mutation_p.R739H|IFT122_ENST00000296266.3_Missense_Mutation_p.R849H|IFT122_ENST00000349441.2_Missense_Mutation_p.R687H|IFT122_ENST00000507564.1_Missense_Mutation_p.R790H|IFT122_ENST00000440957.2_Missense_Mutation_p.R589H|IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000431818.2_Missense_Mutation_p.R648H	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	798					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						GACATCGCCCGCAAACTGGAC	0.597																																						ENST00000296266.3																			0				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(2545-2547)cGc>cAc		intraflagellar transport 122 homolog (Chlamydomonas)							106	103	104					3																	129221571		2203	4300	6503	SO:0001583	missense	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129221571G>A	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"WD repeat domain containing", "Intraflagellar transport homologs"	13556	protein-coding gene	gene with protein product		606045	"WD repeat domain 10", "intraflagellar transport 122 homolog (Chlamydomonas)"	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.2393G>A	3.37:g.129221571G>A	ENSP00000324005:p.Arg798His					IFT122_ENST00000507564.1_Missense_Mutation_p.R790H|IFT122_ENST00000347300.2_Missense_Mutation_p.R739H|IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000440957.2_Missense_Mutation_p.R589H|IFT122_ENST00000504021.1_Missense_Mutation_p.R674H|IFT122_ENST00000431818.2_Missense_Mutation_p.R648H|IFT122_ENST00000348417.2_Missense_Mutation_p.R798H|IFT122_ENST00000349441.2_Missense_Mutation_p.R687H	p.R849H	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN			21	2738	+			798					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	c.2546G>A	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	G	35	5.455763	0.96223	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957;ENST00000509522;ENST00000507221	T;T;T;T;T;T;T;T;T	0.65364	0.5;-0.15;-0.01;0.07;0.64;0.66;0.48;0.07;0.71	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.81103	0.4753	M	0.77313	2.365	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0;0.998;0.994;0.997;1.0;1.0	D;D;D;P;D;D;P;P;D;D	0.81914	0.966;0.995;0.988;0.875;0.993;0.948;0.624;0.792;0.925;0.966	T	0.80919	-0.1167	10	0.59425	D	0.04	-14.9855	20.422	0.99049	0.0:0.0:1.0:0.0	.	589;124;790;185;674;638;687;739;798;849	E9PDG2;B3KUD1;E7EQF4;B3KT43;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;.;.;IF122_HUMAN;.	H	739;849;790;739;648;674;687;798;638;589;295;160	ENSP00000323973:R739H;ENSP00000296266:R849H;ENSP00000425536:R790H;ENSP00000410946:R648H;ENSP00000422179:R674H;ENSP00000324165:R687H;ENSP00000324005:R798H;ENSP00000401569:R589H;ENSP00000424727:R295H	ENSP00000296266:R849H	R	+	2	0	IFT122	130704261	1.000000	0.71417	0.965000	0.40720	0.817000	0.46193	9.587000	0.98229	2.832000	0.97577	0.655000	0.94253	CGC		0.597	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		4	172	0	0	0	1	0	4	172					A	129221571	G	A	129221571	3	1	188	1	0	0	0	0	1	0	0	0	7555	1087	38	1	2628	1	IFT122	3	129221571	Missense_Mutation	SNP	G	TCGA-E8-A438-01A-11D-A23U-08		129221571	68800859	4	3943											
HELQ	113510	broad.mit.edu	37	chr4	84347206	84347206	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctttcagagactccaagaaTggcagctacattttgttctg	9	9	2	2			TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr4:84347206T>A	ENST00000295488.3	-	14	2878	c.2716A>T	c.(2716-2718)Att>Ttt	p.I906F	HELQ_ENST00000510985.1_Missense_Mutation_p.I839F	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	906					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						ACTCCAAGAATGGCAGCTACA	0.388								Other identified genes with known or suspected DNA repair function																														ENST00000295488.3																			0				breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						c.(2716-2718)Att>Ttt	Other identified genes with known or suspected DNA repair function	helicase, POLQ-like							139	144	142					4																	84347206		2203	4300	6503	SO:0001583	missense	113510						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr4:84347206T>A	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.2716A>T	4.37:g.84347206T>A	ENSP00000295488:p.Ile906Phe					HELQ_ENST00000510985.1_Missense_Mutation_p.I839F	p.I906F	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN			14	2878	-			906					Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	ENST00000295488.3	37	c.2716A>T	CCDS3603.1	.	.	.	.	.	.	.	.	.	.	T	8.456	0.854292	0.17106	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.62639	0.36;0.01	5.39	2.21	0.28008	.	0.489001	0.22273	N	0.062223	T	0.50956	0.1646	L	0.46157	1.445	0.09310	N	1	B;B	0.26147	0.143;0.021	B;B	0.21360	0.034;0.007	T	0.31251	-0.9950	10	0.15499	T	0.54	.	13.8618	0.63566	0.0:0.0:0.4279:0.5721	.	839;906	E3W980;Q8TDG4	.;HELQ_HUMAN	F	906;839	ENSP00000295488:I906F;ENSP00000424539:I839F	ENSP00000295488:I906F	I	-	1	0	HELQ	84566230	0.819000	0.29175	0.249000	0.24280	0.956000	0.61745	0.826000	0.27407	0.575000	0.29434	-0.619000	0.04042	ATT		0.388	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		12	154	0	0	0	1	0	12	154					A	84347206	T	A	84347206	3	1	188	1	0	0	0	0	1	0	0	0	7047	1464	51	5	609	5	HELQ	4	84347206	Missense_Mutation	SNP	T	TCGA-E8-A438-01A-11D-A23U-08		84347206	106807070	5	3944											
SYNPO2	171024	broad.mit.edu	37	chr4	119810267	119810267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagattgcaaggtggcaagGagcagaagcagcccttacaa	12	9	1	2			TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr4:119810267G>A	ENST00000429713.2	+	1	258	c.76G>A	c.(76-78)Gag>Aag	p.E26K	SYNPO2_ENST00000307142.4_Missense_Mutation_p.E26K|SYNPO2_ENST00000434046.2_Missense_Mutation_p.E26K|SYNPO2_ENST00000448416.2_Missense_Mutation_p.E26K	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	26	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGGTGGCAAGGAGCAGAAGCA	0.517																																						ENST00000307142.4																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(76-78)Gag>Aag		synaptopodin 2							97	97	97					4																	119810267		2203	4300	6503	SO:0001583	missense	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119810267G>A	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.76G>A	4.37:g.119810267G>A	ENSP00000395143:p.Glu26Lys					SYNPO2_ENST00000429713.2_Missense_Mutation_p.E26K|SYNPO2_ENST00000448416.2_Missense_Mutation_p.E26K|SYNPO2_ENST00000434046.2_Missense_Mutation_p.E26K	p.E26K	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN			1	272	+			26			PDZ.		B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	37	c.76G>A	CCDS47129.1	.	.	.	.	.	.	.	.	.	.	G	33	5.223859	0.95139	.	.	ENSG00000172403	ENST00000307142;ENST00000448416;ENST00000429713;ENST00000434046	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	5.61	5.61	0.85477	PDZ/DHR/GLGF (4);	0.343767	0.21674	N	0.070832	T	0.43809	0.1264	M	0.78916	2.43	0.42205	D	0.99178	P;P;D;D	0.53619	0.896;0.936;0.961;0.961	P;P;P;P	0.54924	0.649;0.669;0.764;0.764	T	0.36792	-0.9733	10	0.62326	D	0.03	-10.3156	18.182	0.89781	0.0:0.0:1.0:0.0	.	26;26;26;26	B4E258;Q9UMS6-2;E9PEM2;Q9UMS6	.;.;.;SYNP2_HUMAN	K	26	ENSP00000306015:E26K;ENSP00000412623:E26K;ENSP00000395143:E26K;ENSP00000390965:E26K	ENSP00000306015:E26K	E	+	1	0	SYNPO2	120029715	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.152000	0.77419	2.793000	0.96121	0.655000	0.94253	GAG		0.517	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			35	65	0	0	0	1	0	35	65					A	119810267	G	A	119810267	3	1	188	1	0	0	0	0	1	0	0	0	15454	1175	41	2	78	2	SYNPO2	4	119810267	Missense_Mutation	SNP	G	TCGA-E8-A438-01A-11D-A23U-08	35463061	119810267	71344009	6	3945											
BBS7	55212	broad.mit.edu	37	chr4	122770040	122770040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcatcatagctgtcttttCctacacaaccaccctggata	4	13	3	0			TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr4:122770040C>T	ENST00000264499.4	-	9	1076	c.893G>A	c.(892-894)gGa>gAa	p.G298E	BBS7_ENST00000506636.1_Missense_Mutation_p.G298E	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	298					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GCTGTCTTTTCCTACACAACC	0.318									Bardet-Biedl syndrome																													ENST00000264499.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(892-894)gGa>gAa		Bardet-Biedl syndrome 7							123	122	122					4																	122770040		2203	4300	6503	SO:0001583	missense	0	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding	g.chr4:122770040C>T	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.893G>A	4.37:g.122770040C>T	ENSP00000264499:p.Gly298Glu					BBS7_ENST00000506636.1_Missense_Mutation_p.G298E	p.G298E	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN			9	1076	-			298					Q4W5P8|Q8N581|Q9NVI4	Missense_Mutation	SNP	ENST00000264499.4	37	c.893G>A	CCDS3724.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.628467	0.87560	.	.	ENSG00000138686	ENST00000264499;ENST00000506636	D;D	0.93763	-3.28;-3.28	5.45	5.45	0.79879	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.94827	0.8329	M	0.80183	2.485	0.80722	D	1	P	0.51537	0.946	P	0.48921	0.595	D	0.93617	0.6944	10	0.28530	T	0.3	-11.5282	19.266	0.93985	0.0:1.0:0.0:0.0	.	298	Q8IWZ6	BBS7_HUMAN	E	298	ENSP00000264499:G298E;ENSP00000423626:G298E	ENSP00000264499:G298E	G	-	2	0	BBS7	122989490	1.000000	0.71417	1.000000	0.80357	0.465000	0.32709	7.237000	0.78164	2.561000	0.86390	0.591000	0.81541	GGA		0.318	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1			26	58	0	0	0	1	0	26	58					T	122770040	C	T	122770040	3	4	188	1	0	0	0	0	1	0	0	0	1341	855	30	2	1303	2	BBS7	4	122770040	Missense_Mutation	SNP	C	TCGA-E8-A438-01A-11D-A23U-08	2959773	122770040	68384236	7	3946											
DEPDC1B	55789	broad.mit.edu	37	chr5	59982897	59982897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagctggaccgtttgtttgCgggtcacttcagggccgaag	15	10	2	0			TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr5:59982897C>T	ENST00000265036.5	-	2	273	c.206G>A	c.(205-207)cGc>cAc	p.R69H	DEPDC1B_ENST00000545085.1_Missense_Mutation_p.R42H|DEPDC1B_ENST00000453022.2_Missense_Mutation_p.R69H	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	69	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				CGTTTGTTTGCGGGTCACTTC	0.473																																						ENST00000265036.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17						c.(205-207)cGc>cAc		DEP domain containing 1B							128	118	121					5																	59982897		2203	4300	6503	SO:0001583	missense	55789				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:59982897C>T	AF303178	CCDS3977.1, CCDS47214.1	5q12	2008-02-05			ENSG00000035499	ENSG00000035499			24902	protein-coding gene	gene with protein product	"breast cancer cell 3"					12477932	Standard	NM_001145208		Approved	XTP1, BRCC3	uc003jsh.3	Q8WUY9	OTTHUMG00000097083	ENST00000265036.5:c.206G>A	5.37:g.59982897C>T	ENSP00000265036:p.Arg69His					DEPDC1B_ENST00000453022.2_Missense_Mutation_p.R69H|DEPDC1B_ENST00000545085.1_Missense_Mutation_p.R42H	p.R69H	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN			2	273	-		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)	69			DEP.		A8K3R9|B4DUT4|Q86WJ3|Q8IZY6|Q9NUN3|Q9NW57	Missense_Mutation	SNP	ENST00000265036.5	37	c.206G>A	CCDS3977.1	.	.	.	.	.	.	.	.	.	.	C	35	5.543962	0.96488	.	.	ENSG00000035499	ENST00000265036;ENST00000453022;ENST00000545085	T;T;T	0.42131	0.98;0.98;0.98	5.64	5.64	0.86602	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.74642	0.3743	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79999	-0.1566	9	.	.	.	-13.4015	20.0625	0.97681	0.0:1.0:0.0:0.0	.	69;69	B4DUT4;Q8WUY9	.;DEP1B_HUMAN	H	69;69;42	ENSP00000265036:R69H;ENSP00000389101:R69H;ENSP00000438320:R42H	.	R	-	2	0	DEPDC1B	60018654	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.669000	0.83911	2.816000	0.96949	0.561000	0.74099	CGC		0.473	DEPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214207.1	NM_018369		4	194	0	0	0	1	0	4	194					T	59982897	C	T	59982897	3	4	188	1	0	0	0	0	1	0	0	0	4440	768	27	1	1423	1	DEPDC1B	5	59982897	Missense_Mutation	SNP	C	TCGA-E8-A438-01A-11D-A23U-08		59982897	120932363	8	3947											
PTK7	5754	broad.mit.edu	37	chr6	43109515	43109515	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcattgcctccaacgggccGcagggccagattcgtgccca	12	15	0	1	rs374951510		TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr6:43109515G>A	ENST00000230419.4	+	11	1949	c.1728G>A	c.(1726-1728)ccG>ccA	p.P576P	PTK7_ENST00000349241.2_Silent_p.P446P|PTK7_ENST00000352931.2_Silent_p.P576P|PTK7_ENST00000481273.1_Silent_p.P584P|PTK7_ENST00000345201.2_Silent_p.P536P	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	576	Ig-like C2-type 6.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CCAACGGGCCGCAGGGCCAGA	0.652																																						ENST00000230419.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1726-1728)ccG>ccA		protein tyrosine kinase 7		G	,,,	1,4405	4.2+/-10.8	0,1,2202	111	108	109		1728,1608,1338,1728	-10.0	0.8	6		109	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTK7	NM_002821.3,NM_152880.2,NM_152881.2,NM_152882.2	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	576/1071,536/1031,446/941,576/1015	43109515	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43109515G>A	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9618	protein-coding gene	gene with protein product		601890	"PTK7 protein tyrosine kinase 7"			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.1728G>A	6.37:g.43109515G>A						PTK7_ENST00000352931.2_Silent_p.P576P|PTK7_ENST00000481273.1_Silent_p.P584P|PTK7_ENST00000349241.2_Silent_p.P446P|PTK7_ENST00000345201.2_Silent_p.P536P	p.P576P	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		11	1949	+			576			Ig-like C2-type 6.		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Silent	SNP	ENST00000230419.4	37	c.1728G>A	CCDS4884.1																																																																																				0.652	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			5	165	0	0	0	1	0	5	165					A	43109515	G	A	43109515	2	1	188	1	0	0	0	0	0	0	0	1	12765	1074	38	1		1	PTK7	6	43109515	Silent	SNP	G	TCGA-E8-A438-01A-11D-A23U-08		43109515	128005552	9	3948											
MUC17	140453	broad.mit.edu	37	chr7	100678988	100678988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacccctgggaccacttctGctgaagccacttcatctcct	7	17	3	1	rs71286276		TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr7:100678988G>A	ENST00000306151.4	+	3	4355	c.4291G>A	c.(4291-4293)Gct>Act	p.A1431T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1431	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.A1431T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GACCACTTCTGCTGAAGCCAC	0.488																																						ENST00000306151.4																			1	Substitution - Missense(1)	p.A1431T(1)	kidney(1)	NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(4291-4293)Gct>Act		mucin 17, cell surface associated							207	222	217					7																	100678988		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678988G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4291G>A	7.37:g.100678988G>A	ENSP00000302716:p.Ala1431Thr						p.A1431T	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	4355	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1431			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4291G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	3.722	-0.057377	0.07317	.	.	ENSG00000169876	ENST00000306151	T	0.02656	4.21	0.982	-0.425	0.12317	.	.	.	.	.	T	0.01558	0.0050	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48779	-0.9005	9	0.02654	T	1	.	4.4511	0.11621	0.488:0.0:0.512:0.0	.	1431	Q685J3	MUC17_HUMAN	T	1431	ENSP00000302716:A1431T	ENSP00000302716:A1431T	A	+	1	0	MUC17	100465708	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.968000	0.00669	-0.790000	0.04492	-1.616000	0.00795	GCT		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		8	580	0	0	0	1	0	8	580					A	100678988	G	A	100678988	3	1	188	1	0	0	0	0	1	0	0	0	9974	1319	46	2	4301	2	MUC17	7	100678988	Missense_Mutation	SNP	G	TCGA-E8-A438-01A-11D-A23U-08		100678988	58459675	10	3949											
C11orf35	256329	broad.mit.edu	37	chr11	555462	555462	+	Frame_Shift_Del	DEL	A	A	-													caggcccctcccgcgcgtggAagagcttccccgagctcact							TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr11:555462delA	ENST00000329451.3	-	13	1678	c.1616delT	c.(1615-1617)ttcfs	p.F539fs	RP11-496I9.1_ENST00000527620.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	LMTD2_HUMAN		539	Pro-rich.									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)		CCGCGCGTGGAAGAGCTTCCC	0.781																																						ENST00000329451.3																			0				NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8						c.(1615-1617)tcfs		chromosome 11 open reading frame 35							3	5	4					11																	555462		1887	3828	5715	SO:0001589	frameshift_variant	256329							g.chr11:555462delA																												ENST00000329451.3:c.1616delT	11.37:g.555462delA	ENSP00000331167:p.Phe539fs						p.F539fs	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)	13	1678	-		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)	539			Pro-rich.			Frame_Shift_Del	DEL	ENST00000329451.3	37	c.1616delT	CCDS7701.1																																																																																				0.781	C11orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254973.2			2	4						2	4	---	---	---	---	-	555462	A	-	555462	7	5	188	1	0	1	0	1	0	0	0	0	1638	246	9	0	296	0	C11orf35	11	555462	Frame_Shift_Del	DEL	A	TCGA-E8-A438-01A-11D-A23U-08		555462	134451054	11	3950											
SLCO2B1	11309	broad.mit.edu	37	chr11	74904577	74904577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgccgctcttctttatcGgctgctccagccaccagatt	8	16	2	1			TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr11:74904577G>A	ENST00000289575.5	+	9	1785	c.1390G>A	c.(1390-1392)Ggc>Agc	p.G464S	SLCO2B1_ENST00000532236.1_Missense_Mutation_p.G348S|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.G442S|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.G237S|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.G209S|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.G237S|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.G320S	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	464					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.G464S(1)		breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	CTTCTTTATCGGCTGCTCCAG	0.627																																						ENST00000289575.5																			1	Substitution - Missense(1)	p.G464S(1)	large_intestine(1)	breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39						c.(1390-1392)Ggc>Agc		solute carrier organic anion transporter family, member 2B1	Ergoloid mesylate(DB01049)						37	33	34					11																	74904577		2200	4293	6493	SO:0001583	missense	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74904577G>A	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"Solute carriers"	10962	protein-coding gene	gene with protein product		604988	"solute carrier family 21 (organic anion transporter), member 9"	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.1390G>A	11.37:g.74904577G>A	ENSP00000289575:p.Gly464Ser					SLCO2B1_ENST00000531756.1_Missense_Mutation_p.G209S|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.G348S|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.G320S|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.G442S|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.G237S|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.G237S	p.G464S	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN			9	1785	+			464					A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	37	c.1390G>A	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963967	0.74131	.	.	ENSG00000137491	ENST00000289575;ENST00000341411;ENST00000532236;ENST00000531756;ENST00000525650;ENST00000454962;ENST00000428359	T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0	5.02	5.02	0.67125	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.61148	0.2324	M	0.62266	1.93	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	T	0.57734	-0.7760	10	0.36615	T	0.2	.	15.8595	0.79012	0.0:0.0:1.0:0.0	.	320;209;237;464	E9PPU8;E9PPJ4;O94956-2;O94956	.;.;.;SO2B1_HUMAN	S	464;237;348;209;320;237;442	ENSP00000289575:G464S;ENSP00000341286:G237S;ENSP00000434112:G348S;ENSP00000432650:G209S;ENSP00000436324:G320S;ENSP00000389653:G237S;ENSP00000388912:G442S	ENSP00000289575:G464S	G	+	1	0	SLCO2B1	74582225	1.000000	0.71417	0.998000	0.56505	0.061000	0.15899	7.562000	0.82300	2.605000	0.88082	0.561000	0.74099	GGC		0.627	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		10	17	0	0	0	1	0	10	17					A	74904577	G	A	74904577	3	1	188	1	0	0	0	0	1	0	0	0	14727	1116	39	1	1424	1	SLCO2B1	11	74904577	Missense_Mutation	SNP	G	TCGA-E8-A438-01A-11D-A23U-08	74349115	74904577	60101939	12	3951											
MYF5	4617	broad.mit.edu	37	chr12	81110848	81110848	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctctcagcaggatggaCgtgatggatggctgccagtt	14	10	1	1			TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr12:81110848C>T	ENST00000228644.3	+	1	158	c.6C>T	c.(4-6)gaC>gaT	p.D2D		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	2					camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GCAGGATGGACGTGATGGATG	0.642																																						ENST00000228644.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						c.(4-6)gaC>gaT		myogenic factor 5							61	56	57					12																	81110848		2203	4300	6503	SO:0001819	synonymous_variant	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81110848C>T		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"Basic helix-loop-helix proteins"	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.6C>T	12.37:g.81110848C>T							p.D2D	NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN			1	158	+			2					Q6ISR9	Silent	SNP	ENST00000228644.3	37	c.6C>T	CCDS9020.1																																																																																				0.642	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		8	49	0	0	0	1	0	8	49					T	81110848	C	T	81110848	2	4	188	1	0	0	0	0	0	0	0	1	10027	535	19	1		1	MYF5	12	81110848	Silent	SNP	C	TCGA-E8-A438-01A-11D-A23U-08		81110848	52741047	13	3952											
CDH11	1009	broad.mit.edu	37	chr16	65005558	65005558	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagataaatcttggtccattGgccgtgtcatccttgtcatc	8	10	3	1			TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr16:65005558G>A	ENST00000268603.4	-	11	2181	c.1566C>T	c.(1564-1566)gcC>gcT	p.A522A	CDH11_ENST00000566827.1_Silent_p.A396A|CDH11_ENST00000394156.3_Silent_p.A522A	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	522	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)		TTGGTCCATTGGCCGTGTCAT	0.413			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.(1564-1566)gcC>gcT		cadherin 11, type 2, OB-cadherin (osteoblast)							129	121	124					16																	65005558		2203	4300	6503	SO:0001819	synonymous_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.chr16:65005558G>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.1566C>T	16.37:g.65005558G>A		TSP Lung(24;0.17)				CDH11_ENST00000566827.1_Silent_p.A396A|CDH11_ENST00000268603.4_Silent_p.A522A	p.A522A			P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	11	2019	-		Ovarian(137;0.0973)	522			Cadherin 5.		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	ENST00000268603.4	37	c.1566C>T	CCDS10803.1																																																																																				0.413	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		4	60	0	0	0	1	0	4	60					A	65005558	G	A	65005558	2	1	188	1	0	0	0	0	0	0	0	1	3097	1335	47	2		2	CDH11	16	65005558	Silent	SNP	G	TCGA-E8-A438-01A-11D-A23U-08		65005558	25349195	14	3953											
PIK3R5	23533	broad.mit.edu	37	chr17	8791970	8791970	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagagaggcctgagacaaaGgaagtcagcagatggcgcga	15	8	2	3			TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr17:8791970G>A	ENST00000447110.1	-	10	1258	c.1134C>T	c.(1132-1134)tcC>tcT	p.S378S	PIK3R5_ENST00000584803.1_Silent_p.S378S|PIK3R5_ENST00000581552.1_Silent_p.S378S	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	378					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CTGAGACAAAGGAAGTCAGCA	0.652																																					NSCLC(18;589 615 7696 20311 50332)	ENST00000447110.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(1132-1134)tcC>tcT		phosphoinositide-3-kinase, regulatory subunit 5							49	53	52					17																	8791970		2203	4300	6503	SO:0001819	synonymous_variant	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8791970G>A	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.1134C>T	17.37:g.8791970G>A						PIK3R5_ENST00000581552.1_Silent_p.S378S|PIK3R5_ENST00000584803.1_Silent_p.S378S	p.S378S	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN			10	1258	-			378					B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Silent	SNP	ENST00000447110.1	37	c.1134C>T	CCDS11147.1																																																																																				0.652	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		10	34	0	0	0	1	0	10	34					A	8791970	G	A	8791970	2	1	188	1	0	0	0	0	0	0	0	1	11922	987	35	2		2	PIK3R5	17	8791970	Silent	SNP	G	TCGA-E8-A438-01A-11D-A23U-08		8791970	72403240	15	3954											
DLGAP1	9229	broad.mit.edu	37	chr18	3879613	3879613	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacggcccctccagggagtgCgacttggtgaagagcttctg	15	11	1	2			TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr18:3879613C>T	ENST00000315677.3	-	4	1051	c.456G>A	c.(454-456)tcG>tcA	p.S152S	DLGAP1_ENST00000515196.2_Silent_p.S152S|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Silent_p.S152S|DLGAP1_ENST00000581527.1_Silent_p.S152S	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	152					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CCAGGGAGTGCGACTTGGTGA	0.687																																						ENST00000315677.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56						c.(454-456)tcG>tcA		discs, large (Drosophila) homolog-associated protein 1							60	70	67					18																	3879613		2203	4300	6503	SO:0001819	synonymous_variant	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3879613C>T	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"discs, large (Drosophila) homolog-associated protein 1"			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.456G>A	18.37:g.3879613C>T						DLGAP1_ENST00000584874.1_Silent_p.S152S|DLGAP1_ENST00000581527.1_Silent_p.S152S|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000515196.2_Silent_p.S152S	p.S152S	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN			4	1051	-		Colorectal(8;0.0257)	152					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Silent	SNP	ENST00000315677.3	37	c.456G>A	CCDS11836.1																																																																																				0.687	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			4	181	0	0	0	1	0	4	181					T	3879613	C	T	3879613	2	4	188	1	0	0	0	0	0	0	0	1	4559	755	27	1		1	DLGAP1	18	3879613	Silent	SNP	C	TCGA-E8-A438-01A-11D-A23U-08		3879613	74197635	16	3955											
ANO8	57719	broad.mit.edu	37	chr19	17441651	17441651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgaccctgaactgggggcGtggctcctccacggcttccc	12	16	0	2			TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr19:17441651G>A	ENST00000159087.4	-	8	1137	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	327					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						AACTGGGGGCGTGGCTCCTCC	0.612																																						ENST00000159087.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						c.(979-981)Cgc>Tgc		anoctamin 8							100	102	101					19																	17441651		2203	4300	6503	SO:0001583	missense	57719					chloride channel complex	chloride channel activity	g.chr19:17441651G>A	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	29329	protein-coding gene	gene with protein product		610216	"KIAA1623", "transmembrane protein 16H"	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.979C>T	19.37:g.17441651G>A	ENSP00000159087:p.Arg327Cys						p.R327C	NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN			8	1137	-			327					A6NIJ0	Missense_Mutation	SNP	ENST00000159087.4	37	c.979C>T	CCDS32949.1	.	.	.	.	.	.	.	.	.	.	g	17.78	3.472736	0.63737	.	.	ENSG00000074855	ENST00000159087	T	0.73469	-0.75	4.59	3.53	0.40419	.	0.120255	0.51477	D	0.000085	D	0.88388	0.6423	H	0.94620	3.56	0.51012	D	0.999902	D	0.89917	1.0	D	0.91635	0.999	D	0.89129	0.3508	10	0.87932	D	0	.	9.8658	0.41142	0.0:0.0:0.6292:0.3708	.	327	Q9HCE9	ANO8_HUMAN	C	327	ENSP00000159087:R327C	ENSP00000159087:R327C	R	-	1	0	ANO8	17302651	0.982000	0.34865	0.996000	0.52242	0.933000	0.57130	1.864000	0.39469	0.899000	0.36444	0.306000	0.20318	CGC		0.612	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644		69	131	0	0	0	1	0	69	131					A	17441651	G	A	17441651	3	1	188	1	0	0	0	0	1	0	0	0	703	1145	40	1	2763	1	ANO8	19	17441651	Missense_Mutation	SNP	G	TCGA-E8-A438-01A-11D-A23U-08		17441651	41687332	17	3956											
CKM	1158	broad.mit.edu	37	chr19	45810034	45810034	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgggcggggatcatgtcgtCaatggactggcctttctcca	13	11	3	0			TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr19:45810034C>T	ENST00000221476.3	-	8	1294	c.1120G>A	c.(1120-1122)Gac>Aac	p.D374N		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	374					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|phosphocreatine biosynthetic process (GO:0046314)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	ATCATGTCGTCAATGGACTGG	0.612																																						ENST00000221476.3																			0				cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17						c.(1120-1122)Gac>Aac		creatine kinase, muscle	Creatine(DB00148)						217	172	188					19																	45810034		2203	4300	6503	SO:0001583	missense	1158				creatine metabolic process	cytosol	ATP binding|creatine kinase activity	g.chr19:45810034C>T	M14780	CCDS12659.1	19q13.32	2012-10-02			ENSG00000104879	ENSG00000104879	2.7.3.2		1994	protein-coding gene	gene with protein product		123310		CKMM			Standard	NM_001824		Approved		uc002pbd.4	P06732		ENST00000221476.3:c.1120G>A	19.37:g.45810034C>T	ENSP00000221476:p.Asp374Asn						p.D374N	NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	8	1294	-		Ovarian(192;0.0336)|all_neural(266;0.112)	374					Q96QL9	Missense_Mutation	SNP	ENST00000221476.3	37	c.1120G>A	CCDS12659.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.975043	0.74360	.	.	ENSG00000104879	ENST00000221476	T	0.23147	1.92	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.32071	0.0817	M	0.68593	2.085	0.58432	D	0.999999	B	0.15930	0.015	B	0.16722	0.016	T	0.05835	-1.0861	10	0.49607	T	0.09	-56.2802	16.8714	0.86041	0.0:1.0:0.0:0.0	.	374	P06732	KCRM_HUMAN	N	374	ENSP00000221476:D374N	ENSP00000221476:D374N	D	-	1	0	CKM	50501874	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	5.979000	0.70508	2.594000	0.87642	0.561000	0.74099	GAC		0.612	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457569.1			6	249	0	0	0	1	0	6	249					T	45810034	C	T	45810034	3	4	188	1	0	0	0	0	1	0	0	0	3448	826	29	2	29	2	CKM	19	45810034	Missense_Mutation	SNP	C	TCGA-E8-A438-01A-11D-A23U-08	28368383	45810034	13318949	18	3957											
MUTYH	4595	broad.mit.edu	37	chr1	45797891	45797891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactggctgcacagtgggcGctgtggggtacacactgtgg	17	10	0	0	rs199840380		TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr1:45797891G>A	ENST00000372098.3	-	10	1004	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C	MUTYH_ENST00000372104.1_Missense_Mutation_p.R266C|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000354383.6_Missense_Mutation_p.R267C|MUTYH_ENST00000355498.2_Missense_Mutation_p.R266C|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000448481.1_Missense_Mutation_p.R277C|MUTYH_ENST00000372115.3_Missense_Mutation_p.R280C|MUTYH_ENST00000372110.3_Missense_Mutation_p.R281C|MUTYH_ENST00000528013.2_Missense_Mutation_p.R280C|MUTYH_ENST00000456914.2_Missense_Mutation_p.R266C|MUTYH_ENST00000488731.2_Intron|MUTYH_ENST00000372100.5_Missense_Mutation_p.R277C|MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000450313.1_Missense_Mutation_p.R294C			Q9UIF7	MUTYH_HUMAN	mutY homolog	291					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298)	mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CACAGTGGGCGCTGTGGGGTA	0.617			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																													ENST00000450313.1			yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	Mis	mutY homolog (E. coli)			E		colorectal			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19						c.(880-882)Cgc>Tgc	Base excision repair (BER), DNA glycosylases	mutY homolog							42	44	43					1																	45797891		2203	4300	6503	SO:0001583	missense	4595	MUTYH-associated polyposis	Familial Cancer Database	MAP, MYH-associated polyposis	depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding	g.chr1:45797891G>A	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"mutY (E. coli) homolog", "mutY homolog (E. coli)"			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.871C>T	1.37:g.45797891G>A	ENSP00000361170:p.Arg291Cys					MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000354383.6_Missense_Mutation_p.R267C|MUTYH_ENST00000355498.2_Missense_Mutation_p.R266C|MUTYH_ENST00000372110.3_Missense_Mutation_p.R281C|MUTYH_ENST00000448481.1_Missense_Mutation_p.R277C|MUTYH_ENST00000372115.3_Missense_Mutation_p.R280C|MUTYH_ENST00000456914.2_Missense_Mutation_p.R266C|MUTYH_ENST00000372100.5_Missense_Mutation_p.R277C|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000372098.3_Missense_Mutation_p.R291C|MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000488731.2_Intron|MUTYH_ENST00000372104.1_Missense_Mutation_p.R266C	p.R294C	NM_001128425.1|NM_012222.2	NP_001121897.1|NP_036354.1	Q9UIF7	MUTYH_HUMAN			10	1095	-	Acute lymphoblastic leukemia(166;0.155)		291					D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Missense_Mutation	SNP	ENST00000372098.3	37	c.880C>T	CCDS520.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.105254	0.56291	.	.	ENSG00000132781	ENST00000372104;ENST00000448481;ENST00000456914;ENST00000354383;ENST00000355498;ENST00000372098;ENST00000372110;ENST00000372115;ENST00000450313;ENST00000372100;ENST00000525481;ENST00000412971;ENST00000435155	D;D;D;D;D;D;D;D;D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15;-3.15;-3.15;-3.15;-3.15;-3.15;-3.15;-3.15;-3.15	5.51	3.44	0.39384	DNA glycosylase (1);Endonuclease III-like, iron-sulphur cluster loop motif (1);Helix-turn-helix, base-excision DNA repair, C-terminal (1);	0.670978	0.16349	N	0.218301	D	0.93762	0.8006	M	0.87547	2.89	0.40448	D	0.980111	D;D;D;D;D;D;D	0.64830	0.978;0.994;0.987;0.994;0.978;0.99;0.962	P;P;P;P;P;B;P	0.50791	0.448;0.448;0.65;0.448;0.448;0.33;0.448	D	0.93136	0.6537	10	0.62326	D	0.03	-10.1322	2.5822	0.04821	0.0901:0.2099:0.3383:0.3617	.	294;291;281;291;280;174;267	E5KP25;E5KP26;Q9UIF7-2;Q9UIF7;E5KP27;D3DPZ6;E5KP28	.;.;.;MUTYH_HUMAN;.;.;.	C	266;277;266;267;266;291;281;280;294;277;138;138;277	ENSP00000361176:R266C;ENSP00000409718:R277C;ENSP00000407590:R266C;ENSP00000346354:R267C;ENSP00000347685:R266C;ENSP00000361170:R291C;ENSP00000361182:R281C;ENSP00000361187:R280C;ENSP00000408176:R294C;ENSP00000361172:R277C;ENSP00000410263:R138C;ENSP00000403655:R277C	ENSP00000346354:R267C	R	-	1	0	MUTYH	45570478	0.780000	0.28664	1.000000	0.80357	0.934000	0.57294	0.914000	0.28624	2.586000	0.87340	0.563000	0.77884	CGC		0.617	MUTYH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020529.1	NM_012222		3	36	0	0	0	1	0	3	36					A	45797891	G	A	45797891	3	1	189	1	0	0	0	0	1	0	0	0	9993	1087	38	1	797	1	MUTYH	1	45797891	Missense_Mutation	SNP	G	TCGA-E8-A44K-01A-21D-A23U-08		45797891	203452730	1	3958											
DISP1	84976	broad.mit.edu	37	chr1	223176363	223176363	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taatcagttctttgattgttTcctattttctctatcgtgta	5	7	3	1			TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr1:223176363T>G	ENST00000284476.6	+	8	1788	c.1624T>G	c.(1624-1626)Tcc>Gcc	p.S542A		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	542	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TTTGATTGTTTCCTATTTTCT	0.353																																						ENST00000284476.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(1624-1626)Tcc>Gcc		dispatched homolog 1 (Drosophila)							145	136	139					1																	223176363		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223176363T>G	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.1624T>G	1.37:g.223176363T>G	ENSP00000284476:p.Ser542Ala						p.S542A	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	1788	+			542			SSD.		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.1624T>G	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	T	8.358	0.832427	0.16820	.	.	ENSG00000154309	ENST00000284476	D	0.86366	-2.11	5.84	5.84	0.93424	Sterol-sensing domain (1);	0.046301	0.85682	D	0.000000	T	0.74160	0.3680	N	0.04148	-0.265	0.54753	D	0.999989	P	0.39782	0.688	B	0.40444	0.329	T	0.75150	-0.3419	10	0.08837	T	0.75	-47.4513	16.2087	0.82144	0.0:0.0:0.0:1.0	.	542	Q96F81	DISP1_HUMAN	A	542	ENSP00000284476:S542A	ENSP00000284476:S542A	S	+	1	0	DISP1	221242986	1.000000	0.71417	0.940000	0.37924	0.995000	0.86356	5.021000	0.64072	2.233000	0.73108	0.482000	0.46254	TCC		0.353	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		21	43	0	0	0	1	0	21	43					G	223176363	T	G	223176363	3	3	189	1	0	0	0	0	1	0	0	0	4539	1783	62	5	1650	5	DISP1	1	223176363	Missense_Mutation	SNP	T	TCGA-E8-A44K-01A-21D-A23U-08	177378472	223176363	26074258	2	3959											
GNPAT	8443	broad.mit.edu	37	chr1	231411174	231411174	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctctcaatgttatgatgtaTtatcttctgatgtgcagaaa	7	7	3	3			TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr1:231411174T>A	ENST00000366647.4	+	14	2036	c.1867T>A	c.(1867-1869)Tta>Ata	p.L623I	GNPAT_ENST00000469332.1_3'UTR|GNPAT_ENST00000366646.3_Missense_Mutation_p.L562I	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	623					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)	p.L623V(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TTATGATGTATTATCTTCTGA	0.428																																						ENST00000366647.4																			1	Substitution - Missense(1)	p.L623V(1)	ovary(1)	breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23						c.(1867-1869)Tta>Ata		glyceronephosphate O-acyltransferase							113	108	110					1																	231411174		2203	4300	6503	SO:0001583	missense	8443				ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity	g.chr1:231411174T>A	AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.1867T>A	1.37:g.231411174T>A	ENSP00000355607:p.Leu623Ile					GNPAT_ENST00000366646.3_Missense_Mutation_p.L562I|GNPAT_ENST00000469332.1_3'UTR	p.L623I	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN			14	2036	+	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)	623					B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	ENST00000366647.4	37	c.1867T>A	CCDS1592.1	.	.	.	.	.	.	.	.	.	.	T	14.14	2.446733	0.43429	.	.	ENSG00000116906	ENST00000366647;ENST00000366646	T;T	0.71698	-0.59;-0.55	5.47	-2.79	0.05841	.	0.079660	0.49305	D	0.000152	T	0.77471	0.4135	M	0.65498	2.005	0.35204	D	0.774522	D;D	0.67145	0.995;0.996	P;D	0.67231	0.904;0.95	T	0.79664	-0.1709	10	0.44086	T	0.13	.	13.0603	0.59003	0.0:0.6585:0.0:0.3415	.	562;623	B4DNM9;O15228	.;GNPAT_HUMAN	I	623;562	ENSP00000355607:L623I;ENSP00000355606:L562I	ENSP00000355606:L562I	L	+	1	2	GNPAT	229477797	0.008000	0.16893	0.008000	0.14137	0.185000	0.23345	0.042000	0.13949	-0.435000	0.07264	0.377000	0.23210	TTA		0.428	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1			4	61	0	0	0	1	0	4	61					A	231411174	T	A	231411174	3	1	189	1	0	0	0	0	1	0	0	0	6541	1490	52	5	1921	5	GNPAT	1	231411174	Missense_Mutation	SNP	T	TCGA-E8-A44K-01A-21D-A23U-08	8234811	231411174	17839447	3	3960											
ADCK2	90956	broad.mit.edu	37	chr7	140394532	140394532	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaggggcttggccgctcaCtggaccccaaactggacatc	13	13	1	0			TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr7:140394532C>T	ENST00000072869.4	+	8	1988	c.1810C>T	c.(1810-1812)Ctg>Ttg	p.L604L	ADCK2_ENST00000476491.1_Intron|NDUFB2_ENST00000482954.1_Intron|NDUFB2_ENST00000471136.1_5'Flank|NDUFB2_ENST00000204307.5_5'Flank|NDUFB2_ENST00000476279.1_5'Flank|NDUFB2_ENST00000461457.1_5'Flank|NDUFB2_ENST00000460088.1_5'Flank|NDUFB2-AS1_ENST00000465466.1_RNA|NDUFB2_ENST00000476470.1_5'Flank|NDUFB2_ENST00000465506.1_5'Flank|NDUFB2_ENST00000472695.1_5'Flank|NDUFB2_ENST00000247866.4_5'Flank	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	604	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					TGGCCGCTCACTGGACCCCAA	0.582																																						ENST00000072869.4																			0				cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15						c.(1810-1812)Ctg>Ttg		aarF domain containing kinase 2							152	132	138					7																	140394532		2203	4300	6503	SO:0001819	synonymous_variant	90956					integral to membrane	ATP binding|protein serine/threonine kinase activity	g.chr7:140394532C>T	AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.1810C>T	7.37:g.140394532C>T						ADCK2_ENST00000476491.1_Intron|NDUFB2_ENST00000482954.1_Intron	p.L604L	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN			8	1988	+	Melanoma(164;0.00956)		604			Protein kinase.		Q96CN6|Q9Y6T5	Silent	SNP	ENST00000072869.4	37	c.1810C>T	CCDS5861.1																																																																																				0.582	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		19	44	0	0	0	1	0	19	44					T	140394532	C	T	140394532	2	4	189	1	0	0	0	0	0	0	0	1	289	564	20	2		2	ADCK2	7	140394532	Silent	SNP	C	TCGA-E8-A44K-01A-21D-A23U-08		140394532	18744131	4	3961											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		21	42	0	0	0	1	0	21	42					T	140453136	A	T	140453136	3	4	189	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E8-A44K-01A-21D-A23U-08	58604	140453136	18685527	5	3962											
BNC2	54796	broad.mit.edu	37	chr9	16435992	16435992	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccttccatggattcctcgcCcagtttgggctccgaagact	9	15	0	1			TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr9:16435992C>A	ENST00000380672.4	-	6	2257	c.2200G>T	c.(2200-2202)Ggc>Tgc	p.G734C	BNC2_ENST00000380666.2_Missense_Mutation_p.G734C|BNC2_ENST00000545497.1_Missense_Mutation_p.G639C|BNC2_ENST00000380667.2_Missense_Mutation_p.G667C	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GATTCCTCGCCCAGTTTGGGC	0.512																																						ENST00000380672.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(2200-2202)Ggc>Tgc		basonuclin 2							103	91	95					9																	16435992		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16435992C>A	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"Zinc fingers, C2H2-type"	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.2200G>T	9.37:g.16435992C>A	ENSP00000370047:p.Gly734Cys					BNC2_ENST00000545497.1_Missense_Mutation_p.G639C|BNC2_ENST00000380666.2_Missense_Mutation_p.G734C|BNC2_ENST00000380667.2_Missense_Mutation_p.G667C	p.G734C	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	2257	-			734						Missense_Mutation	SNP	ENST00000380672.4	37	c.2200G>T	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	6.388	0.439681	0.12104	.	.	ENSG00000173068	ENST00000380672;ENST00000411752;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T;T	0.44881	1.53;0.91;1.52;1.54;1.54;1.51	5.56	4.59	0.56863	.	0.098588	0.64402	D	0.000001	T	0.17874	0.0429	N	0.01576	-0.805	0.40918	D	0.984286	B;B;B;B;B;B;B;B;B	0.06786	0.0;0.0;0.001;0.001;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B	0.04013	0.0;0.0;0.001;0.001;0.0;0.0;0.0;0.0;0.0	T	0.07751	-1.0756	10	0.52906	T	0.07	-13.3074	11.1116	0.48237	0.4082:0.5918:0.0:0.0	.	639;667;734;560;734;691;734;639;499	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	C	734;127;691;667;639;560;734;734	ENSP00000370047:G734C;ENSP00000392212:G127C;ENSP00000408370:G691C;ENSP00000370042:G667C;ENSP00000444640:G639C;ENSP00000370041:G734C	ENSP00000370041:G734C	G	-	1	0	BNC2	16425992	0.998000	0.40836	0.467000	0.27180	0.795000	0.44927	4.286000	0.58995	2.618000	0.88619	0.650000	0.86243	GGC		0.512	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		7	44	1	0	0.307466	1	0.307466	7	44					A	16435992	C	A	16435992	3	1	189	1	0	0	0	0	1	0	0	0	1475	623	22	4	1107	4	BNC2	9	16435992	Missense_Mutation	SNP	C	TCGA-E8-A44K-01A-21D-A23U-08		16435992	124777439	6	3963											
FANCG	2189	broad.mit.edu	37	chr9	35079179	35079179	+	Frame_Shift_Del	DEL	T	T	-													tggaggagccctctgagcccTtccagtgcatcctgagccaa							TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr9:35079179delT	ENST00000378643.3	-	2	635	c.144delA	c.(142-144)gaafs	p.E48fs	FANCG_ENST00000476212.1_5'Flank	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	48					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|mitochondrion organization (GO:0007005)|ovarian follicle development (GO:0001541)|response to radiation (GO:0009314)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	damaged DNA binding (GO:0003684)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTCTGAGCCCTTCCAGTGCAT	0.582			"Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks																														ENST00000378643.3			yes	Rec		Fanconi anaemia G	9	9p13	2189	"Mis, N, F, S"	"Fanconi anemia, complementation group G"			L		"AML, leukemia"			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28						c.(142-144)gafs	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group G							42	36	38					9																	35079179		2202	4300	6502	SO:0001589	frameshift_variant	2189				cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding	g.chr9:35079179delT	AJ007669	CCDS6574.1	9p13	2014-09-17			ENSG00000221829	ENSG00000221829		"Fanconi anemia, complementation groups"	3588	protein-coding gene	gene with protein product	"DNA repair protein XRCC9", "X-ray repair, complementing defective, in Chinese hamster, 9", "X-ray repair complementing defective repair in Chinese hamster cells 9"	602956		XRCC9		9256465, 9382107	Standard	NM_004629		Approved	FAG	uc003zwb.1	O15287	OTTHUMG00000019850	ENST00000378643.3:c.144delA	9.37:g.35079179delT	ENSP00000367910:p.Glu48fs						p.E48fs	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		2	635	-			48						Frame_Shift_Del	DEL	ENST00000378643.3	37	c.144delA	CCDS6574.1																																																																																				0.582	FANCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052269.1	NM_004629		2	4						2	4	---	---	---	---	-	35079179	T	-	35079179	7	5	189	1	0	1	0	1	0	0	0	0	5668	1606	56	0	1776	0	FANCG	9	35079179	Frame_Shift_Del	DEL	T	TCGA-E8-A44K-01A-21D-A23U-08	18643187	35079179	106134252	7	3964											
DEAF1	10522	broad.mit.edu	37	chr11	694809	694809	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cggggccgggcagggcctcgGcgcccatgtccatgtgcccg	17	16	0	0			TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr11:694809G>C	ENST00000382409.3	-	1	723	c.239C>G	c.(238-240)gCc>gGc	p.A80G	TMEM80_ENST00000608174.1_5'Flank|TMEM80_ENST00000397512.3_5'Flank|TMEM80_ENST00000397510.3_5'Flank|DEAF1_ENST00000338675.6_Missense_Mutation_p.A80G	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	80	Ala-rich.				anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		CAGGGCCTCGGCGCCCATGTC	0.771																																						ENST00000382409.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(238-240)gCc>gGc		DEAF1 transcription factor							4	4	4					11																	694809		2032	3894	5926	SO:0001583	missense	10522				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding	g.chr11:694809G>C	AF049460	CCDS31327.1	11p15.5	2013-01-10	2013-01-10		ENSG00000177030	ENSG00000177030		"Zinc fingers, MYND-type"	14677	protein-coding gene	gene with protein product		602635	"deformed epidermal autoregulatory factor 1 (Drosophila)"			9773984	Standard	XR_428838		Approved	NUDR, SPN, ZMYND5	uc001lqq.1	O75398	OTTHUMG00000165363	ENST00000382409.3:c.239C>G	11.37:g.694809G>C	ENSP00000371846:p.Ala80Gly					DEAF1_ENST00000338675.6_Missense_Mutation_p.A80G	p.A80G	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)	1	723	-		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	80			Ala-rich.		A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	ENST00000382409.3	37	c.239C>G	CCDS31327.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.800416	0.50315	.	.	ENSG00000177030	ENST00000382409;ENST00000338675;ENST00000359958;ENST00000388804	T	0.72051	-0.62	2.64	2.64	0.31445	.	0.166245	0.39909	U	0.001231	T	0.53110	0.1776	N	0.24115	0.695	0.80722	D	1	B	0.23316	0.083	B	0.17979	0.02	T	0.50833	-0.8781	10	0.33141	T	0.24	-7.2059	10.9673	0.47421	0.0:0.0:1.0:0.0	.	80	O75398	DEAF1_HUMAN	G	80;80;66;3	ENSP00000371846:A80G	ENSP00000341902:A80G	A	-	2	0	DEAF1	684809	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.674000	0.83992	1.426000	0.47256	0.449000	0.29647	GCC		0.771	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383614.3	NM_021008		4	1	0	0	0	1	0	4	1					C	694809	G	C	694809	3	2	189	1	0	0	0	0	1	0	0	0	4380	1203	42	4	1506	4	DEAF1	11	694809	Missense_Mutation	SNP	G	TCGA-E8-A44K-01A-21D-A23U-08		694809	134311707	8	3965											
HSF5	124535	broad.mit.edu	37	chr17	56557351	56557351	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaggaccttgttgaacatgTacagatgtggtgctgggctg	15	6	0	3			TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr17:56557351T>C	ENST00000323777.3	-	2	937	c.828A>G	c.(826-828)gtA>gtG	p.V276V		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	276					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTTGAACATGTACAGATGTGG	0.468																																						ENST00000323777.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16						c.(826-828)gtA>gtG		heat shock transcription factor family member 5							272	237	249					17																	56557351		2203	4300	6503	SO:0001819	synonymous_variant	124535					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:56557351T>C	BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.828A>G	17.37:g.56557351T>C							p.V276V	NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN			2	937	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		276					Q08EH7|Q8N7V2	Silent	SNP	ENST00000323777.3	37	c.828A>G	CCDS32690.1																																																																																				0.468	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	XM_064190		37	60	0	0	0	1	0	37	60					C	56557351	T	C	56557351	2	2	189	1	0	0	0	0	0	0	0	1	7399	1625	57	3		3	HSF5	17	56557351	Silent	SNP	T	TCGA-E8-A44K-01A-21D-A23U-08		56557351	24637859	9	3966											
RTN2	6253	broad.mit.edu	37	chr19	45998115	45998115	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcagttgaatccctgcggccCccggagcccactacaccatc	9	18	0	1			TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr19:45998115C>G	ENST00000245923.4	-	3	463	c.228G>C	c.(226-228)ggG>ggC	p.G76G	PPM1N_ENST00000396737.2_5'Flank|PPM1N_ENST00000456399.2_5'Flank|RTN2_ENST00000590526.1_5'UTR|RTN2_ENST00000344680.4_Silent_p.G76G|RTN2_ENST00000589384.1_5'UTR|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000430715.2_5'Flank	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	76					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		CCCTGCGGCCCCCGGAGCCCA	0.687																																						ENST00000245923.4																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20						c.(226-228)ggG>ggC		reticulon 2							18	23	21					19																	45998115		2202	4299	6501	SO:0001819	synonymous_variant	6253					integral to endoplasmic reticulum membrane	signal transducer activity	g.chr19:45998115C>G	AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"NSP-like protein 1", "Neuroendocrine-specific protein-like 1"	603183	"spastic paraplegia 12 (autosomal dominant)"	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.228G>C	19.37:g.45998115C>G						RTN2_ENST00000589384.1_5'UTR|RTN2_ENST00000590526.1_5'UTR|RTN2_ENST00000344680.4_Silent_p.G76G|PPM1N_ENST00000401705.1_Intron	p.G76G	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)	3	463	-		Ovarian(192;0.051)|all_neural(266;0.112)	76					O60509|Q7RTM6|Q7RTN1|Q7RTN2	Silent	SNP	ENST00000245923.4	37	c.228G>C	CCDS12665.1																																																																																				0.687	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	NM_005619		13	20	0	0	0	1	0	13	20					G	45998115	C	G	45998115	2	3	189	1	0	0	0	0	0	0	0	1	13726	610	22	4		4	RTN2	19	45998115	Silent	SNP	C	TCGA-E8-A44K-01A-21D-A23U-08		45998115	13130868	10	3967											
ZNF580	51157	broad.mit.edu	37	chr19	56153895	56153895	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctgctgctgccgccgcgGccaccccaccctcggtcctc	10	21	0	0			TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr19:56153895G>A	ENST00000543039.1	+	1	478	c.21G>A	c.(19-21)cgG>cgA	p.R7R	ZNF581_ENST00000270451.5_5'Flank|ZNF581_ENST00000587252.1_Intron|ZNF580_ENST00000545125.1_Silent_p.R7R|ZNF580_ENST00000325333.5_Silent_p.R7R|ZNF581_ENST00000588537.1_5'Flank	NM_016202.2	NP_057286.1	Q9UK33	ZN580_HUMAN	zinc finger protein 580	7	Pro-rich.				cellular response to hydrogen peroxide (GO:0070301)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte chemotaxis (GO:0002690)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			lung(1)|upper_aerodigestive_tract(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TGCCGCCGCGGCCACCCCACC	0.627																																						ENST00000543039.1																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(19-21)cgG>cgA		zinc finger protein 580							14	17	16					19																	56153895		1796	3773	5569	SO:0001819	synonymous_variant	51157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56153895G>A	AF184939	CCDS12931.1	19q13.42	2013-09-20			ENSG00000213015	ENSG00000213015		"Zinc fingers, C2H2-type"	29473	protein-coding gene	gene with protein product						12477932	Standard	NM_001163423		Approved		uc002qlo.3	Q9UK33	OTTHUMG00000180868	ENST00000543039.1:c.21G>A	19.37:g.56153895G>A						ZNF581_ENST00000587252.1_Intron|ZNF580_ENST00000545125.1_Silent_p.R7R|ZNF580_ENST00000325333.5_Silent_p.R7R	p.R7R	NM_016202.2	NP_057286.1	Q9UK33	ZN580_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	1	478	+			7			Pro-rich.		B2RC05|Q9NPP7	Silent	SNP	ENST00000543039.1	37	c.21G>A	CCDS12931.1																																																																																				0.627	ZNF580-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453428.1	NM_016202		3	17	0	0	0	1	0	3	17					A	56153895	G	A	56153895	2	1	189	1	0	0	0	0	0	0	0	1	18009	1190	42	2		2	ZNF580	19	56153895	Silent	SNP	G	TCGA-E8-A44K-01A-21D-A23U-08	10155780	56153895	2975088	11	3968											
TRIOBP	11078	broad.mit.edu	37	chr22	38120673	38120673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaacatcctgtgcccaacggGacgatcccagagcctcctct	9	16	1	1			TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr22:38120673G>A	ENST00000406386.3	+	7	2365	c.2110G>A	c.(2110-2112)Gac>Aac	p.D704N		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	704					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TGCCCAACGGGACGATCCCAG	0.582																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(2110-2112)Gac>Aac		TRIO and F-actin binding protein							173	189	184					22																	38120673		1953	4151	6104	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120673G>A	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2110G>A	22.37:g.38120673G>A	ENSP00000384312:p.Asp704Asn					RP1-37E16.12_ENST00000455236.1_RNA	p.D704N	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	2365	+	Melanoma(58;0.0574)		704					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.2110G>A	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.024542	0.35701	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.26373	1.74	5.08	2.79	0.32731	.	.	.	.	.	T	0.23926	0.0579	L	0.45581	1.43	0.09310	N	1	B	0.33694	0.421	B	0.35470	0.203	T	0.13791	-1.0496	9	0.46703	T	0.11	.	9.6392	0.39828	0.0:0.0:0.6205:0.3795	.	704	Q9H2D6	TARA_HUMAN	N	704	ENSP00000384312:D704N	ENSP00000384312:D704N	D	+	1	0	TRIOBP	36450619	0.000000	0.05858	0.037000	0.18230	0.009000	0.06853	0.270000	0.18607	1.108000	0.41662	0.558000	0.71614	GAC		0.582	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			13	48	0	0	0	1	0	13	48					A	38120673	G	A	38120673	3	1	189	1	0	0	0	0	1	0	0	0	16550	1174	41	2	2128	2	TRIOBP	22	38120673	Missense_Mutation	SNP	G	TCGA-E8-A44K-01A-21D-A23U-08		38120673	13183893	12	3969											
THAP4	51078	broad.mit.edu	37	chr2	242572861	242572861	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttagaggagaaactgtaCgaatgaagtgagccgataaa	12	5	0	4	rs577395918		TCGA-E8-A44M-01A-21D-A23U-08	TCGA-E8-A44M-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ddf79b-b624-4341-8727-e72326c80f3d	ad3886e5-6597-41a8-a0b8-533186183119	g.chr2:242572861C>T	ENST00000407315.1	-	2	1142	c.711G>A	c.(709-711)tcG>tcA	p.S237S		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	237							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		AGAAACTGTACGAATGAAGTG	0.532													C|||	1	0.000199681	0	0.0014	5008	,	,		19473	0		0	False		,,,				2504	0					ENST00000407315.1																			0				kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9						c.(709-711)tcG>tcA		THAP domain containing 4							71	81	78					2																	242572861		2203	4296	6499	SO:0001819	synonymous_variant	51078						DNA binding|metal ion binding	g.chr2:242572861C>T	AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"THAP (C2CH-type zinc finger) domain containing"	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.711G>A	2.37:g.242572861C>T							p.S237S	NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)	2	1142	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	237					Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Silent	SNP	ENST00000407315.1	37	c.711G>A	CCDS2551.1																																																																																				0.532	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	NM_015963		3	49	0	0	0	1	0	3	49					T	242572861	C	T	242572861	2	4	190	1	0	0	0	0	0	0	0	1	15843	523	19	1		1	THAP4	2	242572861	Silent	SNP	C	TCGA-E8-A44M-01A-21D-A23U-08		242572861	626512	1	3970											
PCYOX1L	78991	broad.mit.edu	37	chr5	148743769	148743769	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaggtcatggagaagttcAtgaggtagggctggcagagc	18	5	2	3			TCGA-E8-A44M-01A-21D-A23U-08	TCGA-E8-A44M-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ddf79b-b624-4341-8727-e72326c80f3d	ad3886e5-6597-41a8-a0b8-533186183119	g.chr5:148743769A>G	ENST00000274569.4	+	3	528	c.466A>G	c.(466-468)Atg>Gtg	p.M156V	PCYOX1L_ENST00000514349.1_Missense_Mutation_p.M66V	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	156					prenylcysteine catabolic process (GO:0030328)	extracellular region (GO:0005576)|membrane (GO:0016020)	prenylcysteine oxidase activity (GO:0001735)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAAGTTCATGAGGTAGGG	0.567																																					Ovarian(62;1136 1477 27277 27495)	ENST00000514349.1																			0				breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(196-198)Atg>Gtg		prenylcysteine oxidase 1 like							112	111	112					5																	148743769		2203	4300	6503	SO:0001583	missense	78991				prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor	g.chr5:148743769A>G		CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882			28477	protein-coding gene	gene with protein product						12477932	Standard	NM_024028		Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000274569.4:c.466A>G	5.37:g.148743769A>G	ENSP00000274569:p.Met156Val					PCYOX1L_ENST00000274569.4_Missense_Mutation_p.M156V	p.M66V			Q8NBM8	PCYXL_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	775	+			156					Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	Missense_Mutation	SNP	ENST00000274569.4	37	c.196A>G	CCDS4296.1	.	.	.	.	.	.	.	.	.	.	A	17.06	3.292174	0.59976	.	.	ENSG00000145882	ENST00000274569;ENST00000514349	T;T	0.14640	2.49;2.49	5.58	5.58	0.84498	Prenylcysteine lyase (1);	0.039092	0.85682	D	0.000000	T	0.33904	0.0879	L	0.61036	1.89	0.80722	D	1	D;D;P	0.59357	0.985;0.96;0.86	D;P;P	0.72338	0.977;0.569;0.447	T	0.01956	-1.1240	10	0.29301	T	0.29	-33.0071	15.7408	0.77894	1.0:0.0:0.0:0.0	.	38;66;156	B3KXF9;E7EVZ5;Q8NBM8	.;.;PCYXL_HUMAN	V	156;66	ENSP00000274569:M156V;ENSP00000428512:M66V	ENSP00000274569:M156V	M	+	1	0	PCYOX1L	148723962	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.276000	0.78559	2.129000	0.65627	0.260000	0.18958	ATG		0.567	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252331.2	NM_024028		4	18	0	0	0	1	0	4	18					G	148743769	A	G	148743769	3	3	190	1	0	0	0	0	1	0	0	0	11609	217	8	3	476	3	PCYOX1L	5	148743769	Missense_Mutation	SNP	A	TCGA-E8-A44M-01A-21D-A23U-08		148743769	32171491	2	3971											
GIMAP6	474344	broad.mit.edu	37	chr7	150325517	150325517	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgccgaggatgctgtttcCtgttgcactcttcccactcc	8	16	1	0			TCGA-E8-A44M-01A-21D-A23U-08	TCGA-E8-A44M-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ddf79b-b624-4341-8727-e72326c80f3d	ad3886e5-6597-41a8-a0b8-533186183119	g.chr7:150325517C>A	ENST00000328902.5	-	3	385	c.169G>T	c.(169-171)Gga>Tga	p.G57*	GIMAP6_ENST00000493969.1_Intron	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	57	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATGCTGTTTCCTGTTGCACTC	0.537																																						ENST00000328902.5																			0				endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(169-171)Gga>Tga		GTPase, IMAP family member 6							272	275	274					7																	150325517		2203	4300	6503	SO:0001587	stop_gained	474344						GTP binding	g.chr7:150325517C>A	AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"GTPases, IMAP"	21918	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 6"					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.169G>T	7.37:g.150325517C>A	ENSP00000330374:p.Gly57*					GIMAP6_ENST00000493969.1_Intron	p.G57*	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	385	-			57					C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Nonsense_Mutation	SNP	ENST00000328902.5	37	c.169G>T	CCDS34778.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.524587	0.85600	.	.	ENSG00000133561	ENST00000328902;ENST00000392862;ENST00000477013	.	.	.	4.29	4.29	0.51040	.	0.129021	0.51477	D	0.000081	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	12.1006	0.53780	0.0:1.0:0.0:0.0	.	.	.	.	X	57;118;57	.	ENSP00000330374:G57X	G	-	1	0	GIMAP6	149956450	1.000000	0.71417	0.988000	0.46212	0.511000	0.34104	5.538000	0.67193	2.243000	0.73865	0.561000	0.74099	GGA		0.537	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1	NM_024711		53	235	1	0	9.72345e-25	1	1.01286e-24	53	235					A	150325517	C	A	150325517	4	1	190	1	0	0	0	0	0	1	0	0	6383	690	24	4	713	4	GIMAP6	7	150325517	Nonsense_Mutation	SNP	C	TCGA-E8-A44M-01A-21D-A23U-08		150325517	8813146	3	3972											
ACER1	125981	broad.mit.edu	37	chr19	6309777	6309777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagggcgtaggcgttgaccGtgggccgcaggaaggacaga	19	8	0	3			TCGA-E8-A44M-01A-21D-A23U-08	TCGA-E8-A44M-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ddf79b-b624-4341-8727-e72326c80f3d	ad3886e5-6597-41a8-a0b8-533186183119	g.chr19:6309777G>A	ENST00000301452.4	-	4	496	c.419C>T	c.(418-420)aCg>aTg	p.T140M		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	140					cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|ceramide catabolic process (GO:0046514)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|regulation of lipid metabolic process (GO:0019216)|response to alkaline pH (GO:0010446)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ceramidase activity (GO:0017040)|dihydroceramidase activity (GO:0071633)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						GGCGTTGACCGTGGGCCGCAG	0.607																																						ENST00000301452.4																			0				NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						c.(418-420)aCg>aTg		alkaline ceramidase 1							141	103	116					19																	6309777		2203	4300	6503	SO:0001583	missense	125981					endoplasmic reticulum membrane|integral to membrane	ceramidase activity	g.chr19:6309777G>A	AF347024	CCDS12161.1	19p13.3	2013-01-25	2008-12-19	2008-12-19	ENSG00000167769	ENSG00000167769	3.5.1.23	"Alkaline ceramidase"	18356	protein-coding gene	gene with protein product		613491	"N-acylsphingosine amidohydrolase (alkaline ceramidase) 3"	ASAH3		12783875	Standard	NM_133492		Approved		uc002mel.2	Q8TDN7		ENST00000301452.4:c.419C>T	19.37:g.6309777G>A	ENSP00000301452:p.Thr140Met						p.T140M	NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN			4	496	-			140						Missense_Mutation	SNP	ENST00000301452.4	37	c.419C>T	CCDS12161.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629830	0.46944	.	.	ENSG00000167769	ENST00000301452	T	0.45668	0.89	4.49	-2.68	0.06041	.	0.550838	0.19276	N	0.118279	T	0.46249	0.1383	L	0.57536	1.79	0.09310	N	1	D	0.53462	0.96	P	0.55713	0.782	T	0.44559	-0.9320	10	0.45353	T	0.12	-3.5194	9.7068	0.40220	0.6099:0.0:0.3901:0.0	.	140	Q8TDN7	ACER1_HUMAN	M	140	ENSP00000301452:T140M	ENSP00000301452:T140M	T	-	2	0	ACER1	6260777	0.727000	0.28069	0.001000	0.08648	0.679000	0.39708	3.114000	0.50383	-0.249000	0.09569	0.542000	0.68232	ACG		0.607	ACER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452982.1	NM_133492		4	59	0	0	0	1	0	4	59					A	6309777	G	A	6309777	3	1	190	1	0	0	0	0	1	0	0	0	138	1145	40	1	387	1	ACER1	19	6309777	Missense_Mutation	SNP	G	TCGA-E8-A44M-01A-21D-A23U-08		6309777	52819206	4	3973											
HIVEP3	59269	broad.mit.edu	37	chr1	41979174	41979174	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagcctccgtgccagaggcGggggcatctgggggctgagg	20	10	1	2	rs141816288		TCGA-EL-A3CL-01A-11D-A19J-08	TCGA-EL-A3CL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803f5ae9-126f-4e21-b3a0-881513ff137d	6ecb9b78-a40b-4bc9-b4cb-6687daeed335	g.chr1:41979174G>A	ENST00000372583.1	-	8	6603	c.5718C>T	c.(5716-5718)ccC>ccT	p.P1906P	HIVEP3_ENST00000429157.2_Silent_p.P1906P|HIVEP3_ENST00000372584.1_Silent_p.P1906P|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Silent_p.P1906P	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1906					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)				TGCCAGAGGCGGGGGCATCTG	0.692													G|||	1	0.000199681	8e-04	0	5008	,	,		16948	0		0	False		,,,				2504	0					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.(5716-5718)ccC>ccT		human immunodeficiency virus type I enhancer binding protein 3		G	,	0,4384		0,0,2192	15	18	17		5718,5718	-2.8	0.0	1	dbSNP_134	17	1,8575		0,1,4287	no	coding-synonymous,coding-synonymous	HIVEP3	NM_001127714.2,NM_024503.4	,	0,1,6479	AA,AG,GG		0.0117,0.0,0.0077	,	1906/2406,1906/2407	41979174	1,12959	2192	4288	6480	SO:0001819	synonymous_variant	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:41979174G>A	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.5718C>T	1.37:g.41979174G>A						HIVEP3_ENST00000247584.5_Silent_p.P1906P|HIVEP3_ENST00000372583.1_Silent_p.P1906P|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000429157.2_Silent_p.P1906P	p.P1906P	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			7	6732	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1906					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	ENST00000372583.1	37	c.5718C>T	CCDS463.1																																																																																				0.692	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		8	7	0	0	0	1	0	8	7					A	41979174	G	A	41979174	2	1	191	1	0	0	0	0	0	0	0	1	7188	1103	39	1		1	HIVEP3	1	41979174	Silent	SNP	G	TCGA-EL-A3CL-01A-11D-A19J-08		41979174	207271447	1	3974											
SAMD9L	219285	broad.mit.edu	37	chr7	92760593	92760596	+	Frame_Shift_Del	DEL	TCTT	TCTT	-													aatcctaggtagaaagacacTctttctatgttcctaccact							TCGA-EL-A3CL-01A-11D-A19J-08	TCGA-EL-A3CL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803f5ae9-126f-4e21-b3a0-881513ff137d	6ecb9b78-a40b-4bc9-b4cb-6687daeed335	g.chr7:92760593_92760596delTCTT	ENST00000318238.4	-	5	5905_5908	c.4689_4692delAAGA	c.(4687-4692)gaaagafs	p.ER1563fs	SAMD9L_ENST00000411955.1_Frame_Shift_Del_p.ER1563fs|SAMD9L_ENST00000437805.1_Frame_Shift_Del_p.ER1563fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1563					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AGAAAGACACTCTTTCTATGTTCC	0.343																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(4687-4692)gafs		sterile alpha motif domain containing 9-like																																				SO:0001589	frameshift_variant	219285							g.chr7:92760593_92760596delTCTT	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.4689_4692delAAGA	7.37:g.92760593_92760596delTCTT	ENSP00000326247:p.Glu1563fs					SAMD9L_ENST00000411955.1_Frame_Shift_Del_p.ER1563fs|SAMD9L_ENST00000437805.1_Frame_Shift_Del_p.ER1563fs	p.ER1563fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	5905_5908	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		1563					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Frame_Shift_Del	DEL	ENST00000318238.4	37	c.4689_4692delAAGA	CCDS34681.1																																																																																				0.343	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		20	31						20	31	---	---	---	---	-	92760596	TCTT	-	92760593	7	5	191	1	0	1	0	1	0	0	0	0	13827	1548	54	0	66	0	SAMD9L	7	92760593	Frame_Shift_Del	DEL	TCTT	TCGA-EL-A3CL-01A-11D-A19J-08		92760593	66378070	2	3975											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3CL-01A-11D-A19J-08	TCGA-EL-A3CL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803f5ae9-126f-4e21-b3a0-881513ff137d	6ecb9b78-a40b-4bc9-b4cb-6687daeed335	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		25	50	0	0	0	1	0	25	50					T	140453136	A	T	140453136	3	4	191	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3CL-01A-11D-A19J-08	47692543	140453136	18685527	3	3976											
MRPL41	64975	broad.mit.edu	37	chr9	140446894	140446894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaaaagtacggcttcgagCccacacaggagggaaagctc	13	10	0	0			TCGA-EL-A3CL-01A-11D-A19J-08	TCGA-EL-A3CL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803f5ae9-126f-4e21-b3a0-881513ff137d	6ecb9b78-a40b-4bc9-b4cb-6687daeed335	g.chr9:140446894C>T	ENST00000371443.5	+	2	1149	c.361C>T	c.(361-363)Ccc>Tcc	p.P121S	PNPLA7_ENST00000277531.4_5'Flank|PNPLA7_ENST00000406427.1_5'Flank|DPH7_ENST00000479650.1_5'Flank	NM_032477.2	NP_115866.1	Q8IXM3	RM41_HUMAN	mitochondrial ribosomal protein L41	121					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|lung(1)	2	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)		CGGCTTCGAGCCCACACAGGA	0.602																																						ENST00000371443.5																			0				breast(1)|lung(1)	2						c.(361-363)Ccc>Tcc		mitochondrial ribosomal protein L41							31	28	29					9																	140446894		2202	4290	6492	SO:0001583	missense	64975				apoptosis|cell cycle|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr9:140446894C>T	AB051625	CCDS7046.1	9q34.3	2012-09-13			ENSG00000182154	ENSG00000182154		"Mitochondrial ribosomal proteins / large subunits"	14492	protein-coding gene	gene with protein product		611846				11543634	Standard	NM_032477		Approved	MRP-L27, RPML27, BMRP, PIG3, MRPL27	uc004cnh.4	Q8IXM3	OTTHUMG00000020987	ENST00000371443.5:c.361C>T	9.37:g.140446894C>T	ENSP00000360498:p.Pro121Ser						p.P121S	NM_032477.2	NP_115866.1	Q8IXM3	RM41_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)	2	1149	+	all_cancers(76;0.106)		121					Q96Q49	Missense_Mutation	SNP	ENST00000371443.5	37	c.361C>T	CCDS7046.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.465754	0.84425	.	.	ENSG00000182154	ENST00000371443	.	.	.	4.82	4.82	0.62117	.	0.338856	0.31123	N	0.008207	T	0.65196	0.2668	M	0.78223	2.4	0.43462	D	0.995662	B	0.34103	0.437	B	0.32805	0.153	T	0.71852	-0.4467	9	0.87932	D	0	.	17.0619	0.86549	0.0:1.0:0.0:0.0	.	121	Q8IXM3	RM41_HUMAN	S	121	.	ENSP00000360498:P121S	P	+	1	0	MRPL41	139566715	1.000000	0.71417	0.997000	0.53966	0.788000	0.44548	4.107000	0.57811	2.509000	0.84616	0.561000	0.74099	CCC		0.602	MRPL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055327.1	NM_032477		10	26	0	0	0	1	0	10	26					T	140446894	C	T	140446894	3	4	191	1	0	0	0	0	1	0	0	0	9805	739	26	2	363	2	MRPL41	9	140446894	Missense_Mutation	SNP	C	TCGA-EL-A3CL-01A-11D-A19J-08		140446894	766537	4	3977											
AKAP6	9472	broad.mit.edu	37	chr14	33291666	33291666	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtggcaatatagaaaagacAttcactggcatgcagaatgc	10	7	1	3			TCGA-EL-A3CL-01A-11D-A19J-08	TCGA-EL-A3CL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803f5ae9-126f-4e21-b3a0-881513ff137d	6ecb9b78-a40b-4bc9-b4cb-6687daeed335	g.chr14:33291666A>G	ENST00000280979.4	+	13	4817	c.4647A>G	c.(4645-4647)acA>acG	p.T1549T	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1549					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TAGAAAAGACATTCACTGGCA	0.413																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(4645-4647)acA>acG		A kinase (PRKA) anchor protein 6							112	118	116					14																	33291666		2203	4300	6503	SO:0001819	synonymous_variant	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33291666A>G	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.4647A>G	14.37:g.33291666A>G						AKAP6_ENST00000557272.1_Intron	p.T1549T	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	4817	+	Breast(36;0.0388)|Prostate(35;0.15)		1549					A7E242|A7E2D4|O15028	Silent	SNP	ENST00000280979.4	37	c.4647A>G	CCDS9644.1																																																																																				0.413	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		8	123	0	0	0	1	0	8	123					G	33291666	A	G	33291666	2	3	191	1	0	0	0	0	0	0	0	1	455	204	8	3		3	AKAP6	14	33291666	Silent	SNP	A	TCGA-EL-A3CL-01A-11D-A19J-08		33291666	74057874	5	3978											
ZFHX3	463	broad.mit.edu	37	chr16	72827620	72827621	+	Frame_Shift_Ins	INS	-	-	T													accagacctgaacgactctcINStttggcagtccaatgtcatt							TCGA-EL-A3CL-01A-11D-A19J-08	TCGA-EL-A3CL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803f5ae9-126f-4e21-b3a0-881513ff137d	6ecb9b78-a40b-4bc9-b4cb-6687daeed335	g.chr16:72827620_72827621insT	ENST00000268489.5	-	9	9632_9633	c.8960_8961insA	c.(8959-8961)aagfs	p.K2987fs	RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Frame_Shift_Ins_p.K2073fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2987					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)				GAACGACTCTCTTTGGCAGTCC	0.465																																						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.(8959-8961)aagfs		zinc finger homeobox 3																																				SO:0001589	frameshift_variant	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.chr16:72827620_72827621insT	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.8961dupA	16.37:g.72827623_72827623dupT	ENSP00000268489:p.Lys2987fs					ZFHX3_ENST00000397992.5_Frame_Shift_Ins_p.K2073fs	p.K2987fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	9632_9633	-		Ovarian(137;0.13)	2987					D3DWS8|O15101|Q13719	Frame_Shift_Ins	INS	ENST00000268489.5	37	c.8960_8961insA	CCDS10908.1																																																																																				0.465	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		44	90						44	90	---	---	---	---	T	72827621	-	T	72827620	7	5	191	1	0	1	1	0	0	0	0	0	17631	912	32	0	2158	0	ZFHX3	16	72827620	Frame_Shift_Ins	INS	-	TCGA-EL-A3CL-01A-11D-A19J-08		72827620	17527133	6	3979											
KAT2A	2648	broad.mit.edu	37	chr17	40269530	40269530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgggcgtcagtgagttgcCgatgacatggaactcgatga	14	8	1	3			TCGA-EL-A3CL-01A-11D-A19J-08	TCGA-EL-A3CL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803f5ae9-126f-4e21-b3a0-881513ff137d	6ecb9b78-a40b-4bc9-b4cb-6687daeed335	g.chr17:40269530C>T	ENST00000225916.5	-	10	1566	c.1513G>A	c.(1513-1515)Ggc>Agc	p.G505S		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	505	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						AGTGAGTTGCCGATGACATGG	0.637																																						ENST00000225916.5																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1513-1515)Ggc>Agc		K(lysine) acetyltransferase 2A							31	29	30					17																	40269530		2203	4300	6503	SO:0001583	missense	2648				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity	g.chr17:40269530C>T	AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"Chromatin-modifying enzymes / K-acetyltransferases"	4201	protein-coding gene	gene with protein product		602301	"GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.1513G>A	17.37:g.40269530C>T	ENSP00000225916:p.Gly505Ser						p.G505S	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN			10	1566	-			505			N-acetyltransferase.		Q8N1A2|Q9UCW1	Missense_Mutation	SNP	ENST00000225916.5	37	c.1513G>A	CCDS11417.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567978	0.86439	.	.	ENSG00000108773	ENST00000225916	T	0.04970	3.52	4.8	4.8	0.61643	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (1);	0.055629	0.64402	D	0.000001	T	0.12561	0.0305	L	0.60067	1.865	0.80722	D	1	D	0.55172	0.97	P	0.46172	0.506	T	0.02288	-1.1182	10	0.51188	T	0.08	-22.7713	17.8781	0.88831	0.0:1.0:0.0:0.0	.	505	Q92830	KAT2A_HUMAN	S	505	ENSP00000225916:G505S	ENSP00000225916:G505S	G	-	1	0	KAT2A	37523056	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	7.818000	0.86416	2.223000	0.72356	0.561000	0.74099	GGC		0.637	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1	NM_021078		21	29	0	0	0	1	0	21	29					T	40269530	C	T	40269530	3	4	191	1	0	0	0	0	1	0	0	0	7981	652	23	1	1036	1	KAT2A	17	40269530	Missense_Mutation	SNP	C	TCGA-EL-A3CL-01A-11D-A19J-08		40269530	40925680	7	3980											
CNN2	1265	broad.mit.edu	37	chr19	1037875	1037875	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtccctgaatatcccccttaCtaccaggaggaggccggcta	10	14	0	1			TCGA-EL-A3CL-01A-11D-A19J-08	TCGA-EL-A3CL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803f5ae9-126f-4e21-b3a0-881513ff137d	6ecb9b78-a40b-4bc9-b4cb-6687daeed335	g.chr19:1037875C>G	ENST00000263097.4	+	7	1269	c.906C>G	c.(904-906)taC>taG	p.Y302*	CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000562958.2_Nonsense_Mutation_p.Y323*|CNN2_ENST00000565096.2_Nonsense_Mutation_p.Y291*|CNN2_ENST00000348419.3_Nonsense_Mutation_p.Y263*|ABCA7_ENST00000263094.6_5'Flank|AC011558.5_ENST00000585757.1_RNA	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	302					actomyosin structure organization (GO:0031032)|cellular response to mechanical stimulus (GO:0071260)|cytoskeleton organization (GO:0007010)|hemopoiesis (GO:0030097)|negative regulation of cell migration (GO:0030336)|negative regulation of phagocytosis (GO:0050765)|positive regulation of gene expression (GO:0010628)|regulation of actin filament-based process (GO:0032970)|regulation of cell proliferation (GO:0042127)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|stress fiber (GO:0001725)	actin binding (GO:0003779)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		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)		ATCCCCCTTACTACCAGGAGG	0.602																																						ENST00000263097.4																			0				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10						c.(904-906)taC>taG		calponin 2							30	37	35					19																	1037875		2072	4118	6190	SO:0001587	stop_gained	1265				actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding	g.chr19:1037875C>G	D83735	CCDS12053.1, CCDS12054.1	19p13.3	2011-02-18			ENSG00000064666	ENSG00000064666			2156	protein-coding gene	gene with protein product		602373				8889829	Standard	NM_004368		Approved		uc002lqu.3	Q99439		ENST00000263097.4:c.906C>G	19.37:g.1037875C>G	ENSP00000263097:p.Tyr302*					CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000348419.3_Nonsense_Mutation_p.Y263*|CNN2_ENST00000565096.2_Nonsense_Mutation_p.Y291*|CNN2_ENST00000562958.2_Nonsense_Mutation_p.Y323*	p.Y302*	NM_004368.2	NP_004359.1	Q99439	CNN2_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)	7	1269	+		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)	302					A5D8U8|A6NFI4|D6W5X9|Q92578	Nonsense_Mutation	SNP	ENST00000263097.4	37	c.906C>G	CCDS12053.1	.	.	.	.	.	.	.	.	.	.	c	19.49	3.838355	0.71373	.	.	ENSG00000064666	ENST00000263097;ENST00000348419;ENST00000442531	.	.	.	4.5	3.4	0.38934	.	0.623411	0.16191	N	0.225361	.	.	.	.	.	.	0.32660	N	0.518253	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	6.6303	0.22853	0.0:0.8665:0.0:0.1335	.	.	.	.	X	302;263;281	.	ENSP00000263097:Y302X	Y	+	3	2	CNN2	988875	0.562000	0.26586	0.451000	0.26982	0.495000	0.33615	0.480000	0.22244	2.330000	0.79161	0.556000	0.70494	TAC		0.602	CNN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420293.3	NM_004368		27	62	0	0	0	1	0	27	62					G	1037875	C	G	1037875	4	3	191	1	0	0	0	0	0	1	0	0	3610	576	20	4	932	4	CNN2	19	1037875	Nonsense_Mutation	SNP	C	TCGA-EL-A3CL-01A-11D-A19J-08		1037875	58091108	8	3981											
GATA5	140628	broad.mit.edu	37	chr20	61039965	61039965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctgggggcttggggccGtggaggggaaggcaaagtcc	20	9	0	0	rs202078502		TCGA-EL-A3CL-01A-11D-A19J-08	TCGA-EL-A3CL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803f5ae9-126f-4e21-b3a0-881513ff137d	6ecb9b78-a40b-4bc9-b4cb-6687daeed335	g.chr20:61039965G>A	ENST00000252997.2	-	7	1182	c.1121C>T	c.(1120-1122)aCg>aTg	p.T374M		NM_080473.4	NP_536721.1	Q9BWX5	GATA5_HUMAN	GATA binding protein 5	374					blood coagulation (GO:0007596)|cellular response to BMP stimulus (GO:0071773)|intestinal epithelial cell differentiation (GO:0060575)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			kidney(1)|lung(3)|ovary(1)|stomach(1)	6	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)			GCTTGGGGCCGTGGAGGGGAA	0.677													G|||	0	0	0	0	5008	,	,		12948	0		0	False		,,,				2504	0					ENST00000252997.2																			0				kidney(1)|lung(3)|ovary(1)|stomach(1)	6						c.(1120-1122)aCg>aTg		GATA binding protein 5							29	31	30					20																	61039965		2203	4300	6503	SO:0001583	missense	140628				blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:61039965G>A	BC047790, BC117356	CCDS13499.1	20q13.33	2013-07-17	2001-11-28		ENSG00000130700	ENSG00000130700		"GATA zinc finger domain containing"	15802	protein-coding gene	gene with protein product		611496	"GATA-binding protein 5"			9566909	Standard	NM_080473		Approved	bB379O24.1, GATAS	uc002ycx.1	Q9BWX5	OTTHUMG00000032919	ENST00000252997.2:c.1121C>T	20.37:g.61039965G>A	ENSP00000252997:p.Thr374Met						p.T374M	NM_080473.4	NP_536721.1	Q9BWX5	GATA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.08e-06)		7	1182	-	Breast(26;2.05e-08)		374					D9ZGF7|Q17RE2|Q86VU4	Missense_Mutation	SNP	ENST00000252997.2	37	c.1121C>T	CCDS13499.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	7.575	0.667582	0.14710	.	.	ENSG00000130700	ENST00000370545;ENST00000540404;ENST00000252997	D	0.98345	-4.88	5.27	3.33	0.38152	.	0.898209	0.09526	N	0.790155	D	0.94489	0.8226	L	0.38175	1.15	0.09310	N	1	B	0.30851	0.297	B	0.15052	0.012	D	0.89155	0.3526	10	0.46703	T	0.11	-19.1417	3.7609	0.08603	0.1524:0.1296:0.5848:0.1332	.	374	Q9BWX5	GATA5_HUMAN	M	374;394;374	ENSP00000252997:T374M	ENSP00000252997:T374M	T	-	2	0	GATA5	60473360	0.000000	0.05858	0.001000	0.08648	0.508000	0.34012	0.848000	0.27710	0.617000	0.30160	0.555000	0.69702	ACG		0.677	GATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080038.2	NM_080473		3	31	0	0	0	1	0	3	31					A	61039965	G	A	61039965	3	1	191	1	0	0	0	0	1	0	0	0	6257	1145	40	1	76	1	GATA5	20	61039965	Missense_Mutation	SNP	G	TCGA-EL-A3CL-01A-11D-A19J-08		61039965	1985555	9	3982											
DSCAM	1826	broad.mit.edu	37	chr21	41711101	41711101	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgccgagttgttggcagtGcagcggtagactcccccgtc	13	15	0	1			TCGA-EL-A3CL-01A-11D-A19J-08	TCGA-EL-A3CL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803f5ae9-126f-4e21-b3a0-881513ff137d	6ecb9b78-a40b-4bc9-b4cb-6687daeed335	g.chr21:41711101G>A	ENST00000400454.1	-	7	1929	c.1452C>T	c.(1450-1452)tgC>tgT	p.C484C		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	484	Ig-like C2-type 5.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGTTGGCAGTGCAGCGGTAGA	0.547																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(1450-1452)tgC>tgT		Down syndrome cell adhesion molecule							75	79	78					21																	41711101		2038	4189	6227	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41711101G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1452C>T	21.37:g.41711101G>A							p.C484C	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			7	1929	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	484			Ig-like C2-type 5.		O60468	Silent	SNP	ENST00000400454.1	37	c.1452C>T	CCDS42929.1																																																																																				0.547	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		22	44	0	0	0	1	0	22	44					A	41711101	G	A	41711101	2	1	191	1	0	0	0	0	0	0	0	1	4768	1311	46	2		2	DSCAM	21	41711101	Silent	SNP	G	TCGA-EL-A3CL-01A-11D-A19J-08		41711101	6418794	10	3983											
IL17RC	84818	broad.mit.edu	37	chr3	9965966	9965966	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acagacctggttccctgcctCtgtattcaggtaggagcaga	11	11	2	2			TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chr3:9965966C>T	ENST00000295981.3	+	9	1244	c.1026C>T	c.(1024-1026)ctC>ctT	p.L342L	IL17RC_ENST00000383812.4_Silent_p.L256L|IL17RC_ENST00000416074.2_Silent_p.L127L|IL17RC_ENST00000455057.1_Silent_p.L256L|IL17RC_ENST00000413608.1_Silent_p.L271L|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000403601.3_Silent_p.L271L	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	342					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TTCCCTGCCTCTGTATTCAGG	0.507																																						ENST00000295981.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1024-1026)ctC>ctT		interleukin 17 receptor C							76	67	70					3																	9965966		2203	4300	6503	SO:0001819	synonymous_variant	84818					integral to membrane|plasma membrane	receptor activity	g.chr3:9965966C>T	BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"Interleukins and interleukin receptors"	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.1026C>T	3.37:g.9965966C>T						IL17RC_ENST00000383812.4_Silent_p.L256L|IL17RC_ENST00000416074.2_Silent_p.L127L|IL17RC_ENST00000403601.3_Silent_p.L271L|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000413608.1_Silent_p.L271L|IL17RC_ENST00000455057.1_Silent_p.L256L	p.L342L	NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN			9	1244	+			342					E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Silent	SNP	ENST00000295981.3	37	c.1026C>T	CCDS2590.1																																																																																				0.507	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	NM_032732		3	17	0	0	0	0.009096	0	3	17					T	9965966	C	T	9965966	2	4	192	1	0	0	0	0	0	0	0	1	7641	900	32	2		2	IL17RC	3	9965966	Silent	SNP	C	TCGA-EL-A3CM-01A-11D-A19J-08		9965966	188056464	1	3984											
RAD54L2	23132	broad.mit.edu	37	chr3	51664942	51664942	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggcacgggctgtgaaacctCatcaggtacagcaaaccttg	11	11	2	1			TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chr3:51664942C>A	ENST00000409535.2	+	6	945	c.820C>A	c.(820-822)Cat>Aat	p.H274N	RAD54L2_ENST00000296477.3_5'UTR	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	274						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TGTGAAACCTCATCAGGTACA	0.512																																						ENST00000409535.1																			0				NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31						c.(820-822)Cat>Aat		RAD54-like 2 (S. cerevisiae)							82	72	76					3																	51664942		2203	4300	6503	SO:0001583	missense	23132					nucleus	ATP binding|DNA binding|helicase activity	g.chr3:51664942C>A	AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.820C>A	3.37:g.51664942C>A	ENSP00000386520:p.His274Asn					RAD54L2_ENST00000296477.3_5'UTR	p.H274N	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)	6	945	+			274					Q8TB57|Q9BV54	Missense_Mutation	SNP	ENST00000409535.2	37	c.820C>A	CCDS33765.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.127664|5.127664	0.94473|0.94473	.|.	.|.	ENSG00000164080|ENSG00000164080	ENST00000409535|ENST00000432863	D|.	0.95171|.	-3.63|.	6.03|6.03	6.03|6.03	0.97812|0.97812	DEAD-like helicase (1);SNF2-related (1);|.	0.045698|.	0.85682|.	D|.	0.000000|.	D|.	0.88489|.	0.6450|.	H|H	0.95884|0.95884	3.735|3.735	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|.	0.91112|.	0.4923|.	10|.	0.87932|.	D|.	0|.	-4.887|-4.887	19.545|19.545	0.95291|0.95291	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	274|.	Q9Y4B4|.	ARIP4_HUMAN|.	N|X	274|102	ENSP00000386520:H274N|.	ENSP00000386520:H274N|.	H|S	+|+	1|2	0|0	RAD54L2|RAD54L2	51639982|51639982	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.487000|7.487000	0.81328|0.81328	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	CAT|TCA		0.512	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106		10	26	1	0	3.07112e-06	0.010729	6.78879e-06	10	26					A	51664942	C	A	51664942	3	1	192	1	0	0	0	0	1	0	0	0	12994	826	29	4	838	4	RAD54L2	3	51664942	Missense_Mutation	SNP	C	TCGA-EL-A3CM-01A-11D-A19J-08	41698976	51664942	146357488	2	3985											
SNX2	6643	broad.mit.edu	37	chr5	122131017	122131017	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagaagatattagtgcaaaCtccaatggcccaaaacccac	7	12	0	2			TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chr5:122131017C>A	ENST00000379516.2	+	2	273	c.165C>A	c.(163-165)aaC>aaA	p.N55K	snoU13_ENST00000516486.1_RNA|SNX2_ENST00000514949.1_5'UTR	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	sorting nexin 2	55					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		TTAGTGCAAACTCCAATGGCC	0.353																																						ENST00000379516.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19						c.(163-165)aaC>aaA		sorting nexin 2							157	156	156					5																	122131017		2203	4300	6503	SO:0001583	missense	6643				cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity	g.chr5:122131017C>A	AF043453	CCDS34217.1, CCDS64234.1	5q23.2	2011-05-03			ENSG00000205302	ENSG00000205302		"Sorting nexins"	11173	protein-coding gene	gene with protein product		605929				9819414	Standard	NM_003100		Approved		uc003kte.4	O60749	OTTHUMG00000163020	ENST00000379516.2:c.165C>A	5.37:g.122131017C>A	ENSP00000368831:p.Asn55Lys					SNX2_ENST00000514949.1_5'UTR	p.N55K	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)	2	273	+		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	55					B3KN44|B4DEK4|B7Z408|O43650|P82862|Q53XK8|Q597H6|Q9BTS8	Missense_Mutation	SNP	ENST00000379516.2	37	c.165C>A	CCDS34217.1	.	.	.	.	.	.	.	.	.	.	C	8.452	0.853289	0.17106	.	.	ENSG00000205302	ENST00000379516;ENST00000505934	T;T	0.39406	1.08;1.08	5.75	1.74	0.24563	.	0.147179	0.64402	D	0.000007	T	0.41627	0.1167	L	0.44542	1.39	0.80722	D	1	P	0.49696	0.927	P	0.57244	0.816	T	0.41770	-0.9490	10	0.05833	T	0.94	-23.8746	9.5568	0.39343	0.0:0.573:0.0:0.427	.	55	O60749	SNX2_HUMAN	K	55	ENSP00000368831:N55K;ENSP00000422413:N55K	ENSP00000368831:N55K	N	+	3	2	SNX2	122158916	0.999000	0.42202	1.000000	0.80357	0.955000	0.61496	0.708000	0.25719	0.310000	0.22990	0.491000	0.48974	AAC		0.353	SNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371392.1	NM_003100		4	85	1	0	0.000602214	0.014758	0.00120443	4	85					A	122131017	C	A	122131017	3	1	192	1	0	0	0	0	1	0	0	0	14891	564	20	4	171	4	SNX2	5	122131017	Missense_Mutation	SNP	C	TCGA-EL-A3CM-01A-11D-A19J-08		122131017	58784243	3	3986											
RIOK1	83732	broad.mit.edu	37	chr6	7393347	7393347	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tctagtgaaaacagagacttGaagacagtcaaagagaagga	11	5	2	5			TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chr6:7393347G>C	ENST00000379834.2	+	2	594	c.87G>C	c.(85-87)ttG>ttC	p.L29F		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	29							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L22F(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ACAGAGACTTGAAGACAGTCA	0.333																																						ENST00000379834.2																			1	Substitution - Missense(1)	p.L22F(1)	lung(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(85-87)ttG>ttC		RIO kinase 1							99	94	95					6																	7393347		2203	4300	6503	SO:0001583	missense	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7393347G>C	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"RIO kinase 1 (yeast)"				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.87G>C	6.37:g.7393347G>C	ENSP00000369162:p.Leu29Phe						p.L29F	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN			2	594	+	Ovarian(93;0.0418)		29					B2RB28|Q8NDC8|Q96NV9	Missense_Mutation	SNP	ENST00000379834.2	37	c.87G>C	CCDS4500.1	.	.	.	.	.	.	.	.	.	.	G	9.181	1.023583	0.19433	.	.	ENSG00000124784	ENST00000379834	T	0.05925	3.37	4.77	3.89	0.44902	.	0.899723	0.09272	N	0.825042	T	0.01523	0.0049	N	0.13043	0.29	0.09310	N	1	B	0.29716	0.255	B	0.27796	0.083	T	0.47774	-0.9091	10	0.49607	T	0.09	0.0	9.2529	0.37566	0.1024:0.0:0.8976:0.0	.	29	Q9BRS2	RIOK1_HUMAN	F	29	ENSP00000369162:L29F	ENSP00000369162:L29F	L	+	3	2	RIOK1	7338346	0.958000	0.32768	0.007000	0.13788	0.009000	0.06853	1.608000	0.36847	1.123000	0.41961	0.655000	0.94253	TTG		0.333	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	NM_031480		4	46	0	0	0	0.014758	0	4	46					C	7393347	G	C	7393347	3	2	192	1	0	0	0	0	1	0	0	0	13377	1281	45	4	93	4	RIOK1	6	7393347	Missense_Mutation	SNP	G	TCGA-EL-A3CM-01A-11D-A19J-08		7393347	163721720	4	3987											
SYCP2L	221711	broad.mit.edu	37	chr6	10894210	10894210	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaatataatcgtcttctattAtaccgtcttgacagatcaat	4	8	4	2			TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chr6:10894210A>T	ENST00000283141.6	+	3	485	c.189A>T	c.(187-189)ttA>ttT	p.L63F	SYCP2L_ENST00000543878.1_5'UTR|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	63						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GTCTTCTATTATACCGTCTTG	0.294																																						ENST00000283141.6																			0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(187-189)ttA>ttT		synaptonemal complex protein 2-like							39	38	38					6																	10894210		1811	4068	5879	SO:0001583	missense	221711					nucleus		g.chr6:10894210A>T	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 177"	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.189A>T	6.37:g.10894210A>T	ENSP00000283141:p.Leu63Phe					SYCP2L_ENST00000543878.1_5'UTR|RP11-637O19.3_ENST00000480294.1_3'UTR	p.L63F	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	Epithelial(50;0.239)		3	485	+	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	63					A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	ENST00000283141.6	37	c.189A>T	CCDS43423.1	.	.	.	.	.	.	.	.	.	.	A	2.909	-0.225696	0.06022	.	.	ENSG00000153157	ENST00000283141	T	0.23147	1.92	5.41	-3.46	0.04767	.	0.440276	0.18153	N	0.150023	T	0.04452	0.0122	L	0.35723	1.085	0.23765	N	0.996906	P	0.38078	0.617	B	0.32022	0.139	T	0.22556	-1.0213	10	0.66056	D	0.02	-6.9208	2.173	0.03854	0.2317:0.1259:0.3967:0.2457	.	63	Q5T4T6	SYC2L_HUMAN	F	63	ENSP00000283141:L63F	ENSP00000283141:L63F	L	+	3	2	SYCP2L	11002196	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.083000	0.03397	-0.613000	0.05694	0.459000	0.35465	TTA		0.294	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299		7	24	0	0	0	0.008291	0	7	24					T	10894210	A	T	10894210	3	4	192	1	0	0	0	0	1	0	0	0	15430	446	16	5	199	5	SYCP2L	6	10894210	Missense_Mutation	SNP	A	TCGA-EL-A3CM-01A-11D-A19J-08	3500863	10894210	160220857	5	3988											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		17	44	0	0	0	0.004007	0	17	44					T	140453136	A	T	140453136	3	4	192	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3CM-01A-11D-A19J-08		140453136	18685527	6	3989											
SLC35D2	11046	broad.mit.edu	37	chr9	99113432	99113432	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atggcaaagacactgaggatGatgttgagtgaatactgctt	12	5	0	5			TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chr9:99113432G>A	ENST00000253270.7	-	6	503	c.441C>T	c.(439-441)atC>atT	p.I147I	SLC35D2_ENST00000375257.1_Silent_p.I147I|SLC35D2_ENST00000375259.4_Silent_p.I147I|SLC35D2_ENST00000482643.1_5'UTR	NM_007001.2	NP_008932.2	Q76EJ3	S35D2_HUMAN	solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2	147					carbohydrate derivative transport (GO:1901264)|carbohydrate metabolic process (GO:0005975)|carbohydrate transport (GO:0008643)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|nucleotide transmembrane transport (GO:1901679)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)			endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12		Acute lymphoblastic leukemia(62;0.0167)				CACTGAGGATGATGTTGAGTG	0.353																																						ENST00000253270.7																			0				endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12						c.(439-441)atC>atT		solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2							129	116	120					9																	99113432		2203	4300	6503	SO:0001819	synonymous_variant	11046					Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity	g.chr9:99113432G>A	AB122077	CCDS6717.1, CCDS69625.1	9q22.33	2013-07-17	2013-07-17		ENSG00000130958	ENSG00000130958		"Solute carriers"	20799	protein-coding gene	gene with protein product		609182	"solute carrier family 35, member D2"			15607426	Standard	NM_007001		Approved	UGTrel8, SQV7L	uc004awc.3	Q76EJ3	OTTHUMG00000020293	ENST00000253270.7:c.441C>T	9.37:g.99113432G>A						SLC35D2_ENST00000375257.1_Silent_p.I147I|SLC35D2_ENST00000375259.4_Silent_p.I147I|SLC35D2_ENST00000482643.1_5'UTR	p.I147I	NM_007001.2	NP_008932.2	Q76EJ3	S35D2_HUMAN			6	503	-		Acute lymphoblastic leukemia(62;0.0167)	147					O95454|Q498C1|Q75W21|Q7Z5X5	Silent	SNP	ENST00000253270.7	37	c.441C>T	CCDS6717.1																																																																																				0.353	SLC35D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053261.1			14	23	0	0	0	0.003163	0	14	23					A	99113432	G	A	99113432	2	1	192	1	0	0	0	0	0	0	0	1	14582	1280	45	2		2	SLC35D2	9	99113432	Silent	SNP	G	TCGA-EL-A3CM-01A-11D-A19J-08		99113432	42099999	7	3990											
ABCC2	1244	broad.mit.edu	37	chr10	101558994	101558994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaagaaaaaaaagaagtctGggaccaaaaaagatgttcca	8	5	1	3			TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chr10:101558994G>A	ENST00000370449.4	+	8	1011	c.898G>A	c.(898-900)Ggg>Agg	p.G300R		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	300					cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	AAAGAAGTCTGGGACCAAAAA	0.418																																						ENST00000370449.4																			0				NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.(898-900)Ggg>Agg		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						175	192	187					10																	101558994		2203	4300	6503	SO:0001583	missense	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101558994G>A	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"ATP binding cassette transporters / subfamily C"	53	protein-coding gene	gene with protein product		601107	"canalicular multispecific organic anion transporter 1"	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.898G>A	10.37:g.101558994G>A	ENSP00000359478:p.Gly300Arg						p.G300R	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	8	1011	+		Colorectal(252;0.234)	300					B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	c.898G>A	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	G	7.946	0.743841	0.15642	.	.	ENSG00000023839	ENST00000370449	D	0.89196	-2.48	5.95	3.14	0.36123	ABC transporter, transmembrane domain, type 1 (1);	0.578005	0.19997	N	0.101425	D	0.84497	0.5485	L	0.56769	1.78	0.18873	N	0.999985	B	0.09022	0.002	B	0.06405	0.002	T	0.66937	-0.5797	10	0.15952	T	0.53	-0.0376	11.0948	0.48137	0.1985:0.0:0.8015:0.0	.	300	Q92887	MRP2_HUMAN	R	300	ENSP00000359478:G300R	ENSP00000359478:G300R	G	+	1	0	ABCC2	101548984	0.012000	0.17670	0.014000	0.15608	0.306000	0.27790	1.995000	0.40767	0.429000	0.26202	0.561000	0.74099	GGG		0.418	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		22	165	0	0	0	0.012319	0	22	165					A	101558994	G	A	101558994	3	1	192	1	0	0	0	0	1	0	0	0	53	1348	47	2	928	2	ABCC2	10	101558994	Missense_Mutation	SNP	G	TCGA-EL-A3CM-01A-11D-A19J-08		101558994	33975753	8	3991											
ABCC8	6833	broad.mit.edu	37	chr11	17432134	17432134	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcttgtcgtcccggagcaGctcaaggatgccggcctgca	12	15	2	0			TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chr11:17432134G>A	ENST00000389817.3	-	22	2691	c.2623C>T	c.(2623-2625)Ctg>Ttg	p.L875L	ABCC8_ENST00000302539.4_Silent_p.L876L			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	875	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	TCCCGGAGCAGCTCAAGGATG	0.562																																						ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(2626-2628)Ctg>Ttg		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						146	129	135					11																	17432134		2200	4293	6493	SO:0001819	synonymous_variant	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17432134G>A	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"ATP binding cassette transporters / subfamily C"	59	protein-coding gene	gene with protein product	"sulfonylurea receptor (hyperinsulinemia)"	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.2623C>T	11.37:g.17432134G>A						ABCC8_ENST00000389817.3_Silent_p.L875L	p.L876L	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	22	2751	-			875			ABC transporter 1.		A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	ENST00000389817.3	37	c.2626C>T	CCDS31437.1																																																																																				0.562	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		6	83	0	0	0	0.001168	0	6	83					A	17432134	G	A	17432134	2	1	192	1	0	0	0	0	0	0	0	1	58	962	34	2		2	ABCC8	11	17432134	Silent	SNP	G	TCGA-EL-A3CM-01A-11D-A19J-08		17432134	117574382	9	3992											
DRAM1	55332	broad.mit.edu	37	chr12	102314992	102314992	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctttcatttttaaaaatAgagtgtcaccctaaggatat	5	7	3	1			TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chr12:102314992A>G	ENST00000258534.8	+	7	1111		c.e7-1		RP11-512N21.3_ENST00000551918.1_RNA|DRAM1_ENST00000544152.1_Splice_Site	NM_018370.2	NP_060840.2	Q8N682	DRAM1_HUMAN	DNA-damage regulated autophagy modulator 1						apoptotic process (GO:0006915)|autophagy (GO:0006914)|regulation of autophagy (GO:0010506)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12						TTTTAAAAATAGAGTGTCACC	0.373																																						ENST00000258534.8																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12						c.e7-1		DNA-damage regulated autophagy modulator 1							118	111	113					12																	102314992		1836	4089	5925	SO:0001630	splice_region_variant	55332				apoptosis|autophagy	integral to membrane|lysosomal membrane		g.chr12:102314992A>G	BC018435, DA721965	CCDS41823.1	12q23.2	2014-02-12	2009-06-12		ENSG00000136048	ENSG00000136048			25645	protein-coding gene	gene with protein product	"damage-regulated autophagy modulator"	610776				16839881	Standard	NM_018370		Approved	FLJ11259, DRAM	uc001tix.3	Q8N682		ENST00000258534.8:c.673-1A>G	12.37:g.102314992A>G						DRAM1_ENST00000544152.1_Splice_Site		NM_018370.2	NP_060840.2	Q8N682	DRAM1_HUMAN			7	1111	+								B7Z4T0|Q7L3E3|Q9NUN1	Splice_Site	SNP	ENST00000258534.8	37		CCDS41823.1	.	.	.	.	.	.	.	.	.	.	A	8.244	0.807564	0.16467	.	.	ENSG00000136048	ENST00000258534;ENST00000544152	.	.	.	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4396	0.50090	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DRAM1	100839123	0.998000	0.40836	0.948000	0.38648	0.088000	0.18126	4.816000	0.62642	1.927000	0.55829	0.519000	0.50382	.		0.373	DRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409195.1	NM_018370	Intron	6	87	0	0	0	0.00308	0	6	87					G	102314992	A	G	102314992	5	3	192	1	0	0	0	0	0	0	1	0	4753	434	15	3	697	3	DRAM1	12	102314992	Splice_Site	SNP	A	TCGA-EL-A3CM-01A-11D-A19J-08		102314992	31536903	10	3993											
CIT	11113	broad.mit.edu	37	chr12	120263094	120263094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtccaggccgtaggtgcCttttccatccccgttcatca	8	15	2	0			TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chr12:120263094C>T	ENST00000261833.7	-	8	884	c.832G>A	c.(832-834)Ggc>Agc	p.G278S	CIT_ENST00000392521.2_Missense_Mutation_p.G278S	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	278	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CCGTAGGTGCCTTTTCCATCC	0.527																																						ENST00000392521.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(832-834)Ggc>Agc		citron (rho-interacting, serine/threonine kinase 21)							134	119	124					12																	120263094		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120263094C>T	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.832G>A	12.37:g.120263094C>T	ENSP00000261833:p.Gly278Ser					CIT_ENST00000261833.7_Missense_Mutation_p.G278S	p.G278S	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	8	887	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	278			Protein kinase.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.832G>A	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	C	7.470	0.646425	0.14451	.	.	ENSG00000122966	ENST00000392521;ENST00000261833	T;T	0.63417	-0.04;-0.04	5.69	5.69	0.88448	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.363634	0.26007	N	0.026907	T	0.47820	0.1466	N	0.17474	0.49	0.35615	D	0.808952	B;B	0.09022	0.002;0.002	B;B	0.14578	0.011;0.011	T	0.52881	-0.8516	10	0.44086	T	0.13	.	14.6413	0.68726	0.1455:0.8545:0.0:0.0	.	278;278	Q2M5E1;O14578	.;CTRO_HUMAN	S	278	ENSP00000376306:G278S;ENSP00000261833:G278S	ENSP00000261833:G278S	G	-	1	0	CIT	118747477	0.560000	0.26570	0.539000	0.28077	0.025000	0.11179	1.727000	0.38095	2.692000	0.91855	0.655000	0.94253	GGC		0.527	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		6	74	0	0	0	0.001984	0	6	74					T	120263094	C	T	120263094	3	4	192	1	0	0	0	0	1	0	0	0	3438	681	24	2	5411	2	CIT	12	120263094	Missense_Mutation	SNP	C	TCGA-EL-A3CM-01A-11D-A19J-08	17948102	120263094	13588801	11	3994											
KIF23	9493	broad.mit.edu	37	chr15	69708349	69708349	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggagagctaagacacccCggaaacctaccgtgaaaaaa	9	12	0	3			TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chr15:69708349C>T	ENST00000260363.4	+	2	145	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	RP11-253M7.1_ENST00000558617.1_RNA|KIF23_ENST00000395392.2_Missense_Mutation_p.R10W|KIF23_ENST00000559279.1_Missense_Mutation_p.R10W|RP11-253M7.1_ENST00000560539.1_RNA|RP11-253M7.1_ENST00000558107.1_RNA|KIF23_ENST00000352331.4_Missense_Mutation_p.R10W	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	10					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TAAGACACCCCGGAAACCTAC	0.363																																						ENST00000260363.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						c.(28-30)Cgg>Tgg		kinesin family member 23							67	67	67					15																	69708349		2199	4298	6497	SO:0001583	missense	9493				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding	g.chr15:69708349C>T	X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"Kinesins"	6392	protein-coding gene	gene with protein product		605064	"kinesin-like 5 (mitotic kinesin-like protein 1)"	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.28C>T	15.37:g.69708349C>T	ENSP00000260363:p.Arg10Trp					KIF23_ENST00000559279.1_Missense_Mutation_p.R10W|KIF23_ENST00000352331.4_Missense_Mutation_p.R10W|KIF23_ENST00000395392.2_Missense_Mutation_p.R10W	p.R10W	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN			2	145	+			10			Kinesin-motor.		Q8WVP0	Missense_Mutation	SNP	ENST00000260363.4	37	c.28C>T	CCDS32278.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.903646	0.33628	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392	T;T;T	0.76060	-0.99;-0.96;-0.99	4.74	2.42	0.29668	.	0.052833	0.85682	D	0.000000	T	0.76644	0.4016	L	0.43923	1.385	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.71656	0.903;0.974	T	0.73770	-0.3878	10	0.72032	D	0.01	.	5.4543	0.16582	0.538:0.3663:0.0957:0.0	.	10;10	Q02241-2;Q02241	.;KIF23_HUMAN	W	10	ENSP00000260363:R10W;ENSP00000304978:R10W;ENSP00000378790:R10W	ENSP00000260363:R10W	R	+	1	2	KIF23	67495403	0.984000	0.35163	0.996000	0.52242	0.079000	0.17450	1.431000	0.34925	0.289000	0.22422	-0.500000	0.04577	CGG		0.363	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding				3	16	0	0	0	0.004672	0	3	16					T	69708349	C	T	69708349	3	4	192	1	0	0	0	0	1	0	0	0	8291	643	23	1	34	1	KIF23	15	69708349	Missense_Mutation	SNP	C	TCGA-EL-A3CM-01A-11D-A19J-08		69708349	32823043	12	3995											
IL16	3603	broad.mit.edu	37	chr15	81592023	81592023	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagaaaggtcctcctgtgGctcccaagccagcctggttt	11	12	0	2			TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chr15:81592023G>A	ENST00000302987.4	+	13	2356	c.2356G>A	c.(2356-2358)Gct>Act	p.A786T	IL16_ENST00000560230.1_3'UTR|IL16_ENST00000394660.2_Missense_Mutation_p.A786T|IL16_ENST00000394652.2_Missense_Mutation_p.A85T			Q14005	IL16_HUMAN	interleukin 16	786					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TCCTCCTGTGGCTCCCAAGCC	0.572																																						ENST00000394660.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(2356-2358)Gct>Act		interleukin 16							74	77	76					15																	81592023		2203	4300	6503	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81592023G>A	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"Interleukins and interleukin receptors"	5980	protein-coding gene	gene with protein product	"prointerleukin 16", "lymphocyte chemoattractant factor"	603035	"interleukin 16 (lymphocyte chemoattractant factor)"			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.2356G>A	15.37:g.81592023G>A	ENSP00000302935:p.Ala786Thr					IL16_ENST00000394652.2_Missense_Mutation_p.A85T|IL16_ENST00000302987.4_Missense_Mutation_p.A786T|IL16_ENST00000560230.1_3'UTR	p.A786T	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			14	2716	+			786					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.2356G>A	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	G	32	5.162064	0.94727	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000329842;ENST00000394653;ENST00000394652;ENST00000394656	T;T;T	0.30981	1.52;1.51;2.12	5.16	5.16	0.70880	.	0.000000	0.46442	D	0.000282	T	0.59404	0.2191	M	0.77103	2.36	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.996;0.998;0.999	T	0.64744	-0.6335	10	0.87932	D	0	.	18.6622	0.91475	0.0:0.0:1.0:0.0	.	618;280;323;176;786;786	F8W7Z5;Q6ZTT5;B7Z8M3;B3KY62;Q14005;Q14005-2	.;.;.;.;IL16_HUMAN;.	T	786;618;786;323;176;85;85	ENSP00000378155:A786T;ENSP00000302935:A786T;ENSP00000378147:A85T	ENSP00000302935:A786T	A	+	1	0	IL16	79379078	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	8.382000	0.90154	2.397000	0.81536	0.655000	0.94253	GCT		0.572	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		11	49	0	0	0	0.016723	0	11	49					A	81592023	G	A	81592023	3	1	192	1	0	0	0	0	1	0	0	0	7633	1203	42	2	2406	2	IL16	15	81592023	Missense_Mutation	SNP	G	TCGA-EL-A3CM-01A-11D-A19J-08	11883674	81592023	20939369	13	3996											
ZNF207	7756	broad.mit.edu	37	chr17	30687676	30687676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatgatgacgactctgcaGcctcaacttcatttcagcca	7	12	4	3			TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chr17:30687676G>A	ENST00000321233.6	+	4	521	c.367G>A	c.(367-369)Gcc>Acc	p.A123T	ZNF207_ENST00000341711.6_Intron|ZNF207_ENST00000342555.6_Missense_Mutation_p.A126T|ZNF207_ENST00000577908.1_Missense_Mutation_p.A123T|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000394673.2_Missense_Mutation_p.A123T|ZNF207_ENST00000394670.4_Missense_Mutation_p.A123T	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	123					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)			CGACTCTGCAGCCTCAACTTC	0.398																																						ENST00000394670.4																			0				breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10						c.(367-369)Gcc>Acc		zinc finger protein 207							71	63	66					17																	30687676		2203	4300	6503	SO:0001583	missense	7756					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:30687676G>A	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.367G>A	17.37:g.30687676G>A	ENSP00000322777:p.Ala123Thr					ZNF207_ENST00000394673.2_Missense_Mutation_p.A123T|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000342555.6_Missense_Mutation_p.A126T|ZNF207_ENST00000577908.1_Missense_Mutation_p.A123T|ZNF207_ENST00000321233.6_Missense_Mutation_p.A123T|ZNF207_ENST00000341711.6_Intron	p.A123T	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		4	536	+		Breast(31;0.116)|Ovarian(249;0.182)	123					A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	Missense_Mutation	SNP	ENST00000321233.6	37	c.367G>A	CCDS11271.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.421067	0.42918	.	.	ENSG00000010244	ENST00000394670;ENST00000394673;ENST00000394679;ENST00000321233;ENST00000342555	T;T;T	0.47869	0.89;0.83;0.9	5.26	5.26	0.73747	.	0.113565	0.64402	D	0.000015	T	0.42539	0.1207	L	0.38175	1.15	0.80722	D	1	P;P;P;P;P	0.44139	0.827;0.827;0.827;0.728;0.827	P;P;P;B;B	0.46026	0.501;0.501;0.501;0.325;0.405	T	0.13899	-1.0492	10	0.13108	T	0.6	.	14.4734	0.67531	0.0:0.1468:0.8531:0.0	.	123;126;123;123;123	A8MTG3;Q59G94;E1P660;O43670-2;O43670	.;.;.;.;ZN207_HUMAN	T	123;123;126;123;123	ENSP00000378165:A123T;ENSP00000378168:A123T;ENSP00000322777:A123T	ENSP00000322777:A123T	A	+	1	0	ZNF207	27711789	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.792000	0.75125	2.459000	0.83118	0.650000	0.86243	GCC		0.398	ZNF207-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256251.2			3	32	0	0	0	0.009096	0	3	32					A	30687676	G	A	30687676	3	1	192	1	0	0	0	0	1	0	0	0	17762	971	34	2	381	2	ZNF207	17	30687676	Missense_Mutation	SNP	G	TCGA-EL-A3CM-01A-11D-A19J-08		30687676	50507534	14	3997											
GPKOW	27238	broad.mit.edu	37	chrX	48974115	48974115	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcggtcaggttggcacCcagccctaaccccttgggcc	12	17	1	0			TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chrX:48974115C>A	ENST00000156109.5	-	5	694	c.616G>T	c.(616-618)Ggt>Tgt	p.G206C		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	206	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.					nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						AGGTTGGCACCCAGCCCTAAC	0.572																																						ENST00000156109.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						c.(616-618)Ggt>Tgt		G patch domain and KOW motifs							46	38	41					X																	48974115		2203	4300	6503	SO:0001583	missense	27238					nucleus	nucleic acid binding	g.chrX:48974115C>A	U66359	CCDS35251.1	Xp11.23	2013-01-28			ENSG00000068394	ENSG00000068394		"G patch domain containing"	30677	protein-coding gene	gene with protein product	"G patch domain containing 5"					21880142, 22365833	Standard	NM_015698		Approved	T54, GPATC5, GPATCH5, Spp2	uc004dmr.3	Q92917	OTTHUMG00000021511	ENST00000156109.5:c.616G>T	X.37:g.48974115C>A	ENSP00000156109:p.Gly206Cys						p.G206C	NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN			5	694	-			206			G-patch.		Q59EK5|Q9BQA8	Missense_Mutation	SNP	ENST00000156109.5	37	c.616G>T	CCDS35251.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.055131	0.75960	.	.	ENSG00000068394	ENST00000156109	.	.	.	4.58	4.58	0.56647	D111/G-patch (2);	0.000000	0.85682	D	0.000000	D	0.85492	0.5709	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89374	0.3677	9	0.87932	D	0	-0.0524	15.5507	0.76148	0.0:1.0:0.0:0.0	.	206	Q92917	GPKOW_HUMAN	C	206	.	ENSP00000156109:G206C	G	-	1	0	GPKOW	48861059	1.000000	0.71417	0.998000	0.56505	0.856000	0.48823	5.495000	0.66912	2.269000	0.75478	0.600000	0.82982	GGT		0.572	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056535.2	NM_015698		3	12	1	0	0.004672	0.004672	0.00891927	3	12					A	48974115	C	A	48974115	3	1	192	1	0	0	0	0	1	0	0	0	6613	623	22	4	842	4	GPKOW	23	48974115	Missense_Mutation	SNP	C	TCGA-EL-A3CM-01A-11D-A19J-08		48974115	106296445	15	3998											
IRS4	8471	broad.mit.edu	37	chrX	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C													tcccacttcctgagcctttgINSccccccccagagttcttgcc							TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(1771-1773)gaafs		insulin receptor substrate 4				32,3681		0,19,13,1569,524						4.0	0.4			181	25,6453		0,7,18,2347,1752	no	frameshift	IRS4	NM_003604.2		0,26,31,3916,2276	A1A1,A1R,A1,RR,R		0.3859,0.8618,0.5593				57,10134				SO:0001589	frameshift_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977802_107977803insC	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1773dupG	X.37:g.107977810_107977810dupC	ENSP00000361202:p.Gly591fs						p.E591fs	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	1848_1849	-			591						Frame_Shift_Ins	INS	ENST00000372129.2	37	c.1772_1773insG	CCDS14544.1																																																																																				0.545	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		7	300						7	300	---	---	---	---	C	107977803	-	C	107977802	7	5	192	1	0	1	1	0	0	0	0	0	7842	1306	46	0	2004	0	IRS4	23	107977802	Frame_Shift_Ins	INS	-	TCGA-EL-A3CM-01A-11D-A19J-08	59003687	107977802	47292758	16	3999											
MORN1	79906	broad.mit.edu	37	chr1	2268277	2268277	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccccgggacaatggggcGcatgtcccctggctgaggag	17	12	0	1	rs201376833	byFrequency	TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr1:2268277G>A	ENST00000378531.3	-	11	1222	c.1049C>T	c.(1048-1050)gCg>gTg	p.A350V	MORN1_ENST00000606372.1_5'UTR	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	350										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		ACAATGGGGCGCATGTCCCCT	0.657													g|||	2	0.000399361	0	0	5008	,	,		16647	0.001		0	False		,,,				2504	0.001					ENST00000378531.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9						c.(1048-1050)gCg>gTg		MORN repeat containing 1							18	19	18					1																	2268277		2200	4295	6495	SO:0001583	missense	79906							g.chr1:2268277G>A	AK024003	CCDS40.1, CCDS72688.1	1p36.33-p36.32	2008-02-05			ENSG00000116151	ENSG00000116151			25852	protein-coding gene	gene with protein product						12477932	Standard	XM_005244798		Approved	FLJ13941	uc001ajb.1	Q5T089	OTTHUMG00000001402	ENST00000378531.3:c.1049C>T	1.37:g.2268277G>A	ENSP00000367792:p.Ala350Val					MORN1_ENST00000606372.1_5'UTR	p.A350V	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)	11	1222	-	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	350					A6NKZ6|Q8WW30|Q9H852	Missense_Mutation	SNP	ENST00000378531.3	37	c.1049C>T	CCDS40.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	9.047	0.991229	0.18966	.	.	ENSG00000116151	ENST00000378531	T	0.46063	0.88	3.55	-4.29	0.03721	.	5.843630	0.00659	N	0.000593	T	0.23133	0.0559	N	0.22421	0.69	0.09310	N	1	B	0.15141	0.012	B	0.04013	0.001	T	0.04495	-1.0947	10	0.20519	T	0.43	.	1.1244	0.01732	0.2865:0.1057:0.3608:0.2471	.	350	Q5T089	MORN1_HUMAN	V	350	ENSP00000367792:A350V	ENSP00000367792:A350V	A	-	2	0	MORN1	2258137	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.806000	0.04525	-0.855000	0.04125	0.457000	0.33378	GCG		0.657	MORN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004055.1	NM_024848		3	31	0	0	0	1	0	3	31					A	2268277	G	A	2268277	3	1	193	1	0	0	0	0	1	0	0	0	9708	1087	38	1	460	1	MORN1	1	2268277	Missense_Mutation	SNP	G	TCGA-EL-A3CN-01A-12D-A20C-08		2268277	246982344	1	4000											
NBPF3	84224	broad.mit.edu	37	chr1	21807432	21807432	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttattgcaggaatgaaaaAggaccaagaagaggaagaag	12	3	0	4			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr1:21807432A>G	ENST00000318249.5	+	12	1741	c.1391A>G	c.(1390-1392)aAg>aGg	p.K464R	NBPF3_ENST00000454000.2_Missense_Mutation_p.K394R|NBPF3_ENST00000342104.5_Missense_Mutation_p.K452R|NBPF3_ENST00000318220.6_Missense_Mutation_p.K408R	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	464	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGAATGAAAAAGGACCAAGAA	0.468																																						ENST00000318220.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(1222-1224)aAg>aGg		neuroblastoma breakpoint family, member 3							87	127	114					1																	21807432		2185	4299	6484	SO:0001583	missense	84224					cytoplasm		g.chr1:21807432A>G	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"neuroblastoma breakpoint family"	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1391A>G	1.37:g.21807432A>G	ENSP00000316782:p.Lys464Arg					NBPF3_ENST00000454000.2_Missense_Mutation_p.K394R|NBPF3_ENST00000318249.5_Missense_Mutation_p.K464R|NBPF3_ENST00000342104.5_Missense_Mutation_p.K452R	p.K408R			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	15	2271	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	464			NBPF 3.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.1223A>G	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	6.286	0.420897	0.11928	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.04706	3.57;3.8;3.77;3.78;3.82	0.573	-1.15	0.09709	DUF1220 (1);	.	.	.	.	T	0.06826	0.0174	M	0.76328	2.33	0.09310	N	1	P;P;P	0.45594	0.61;0.862;0.813	B;B;B	0.41332	0.354;0.135;0.221	T	0.16424	-1.0403	8	0.62326	D	0.03	.	.	.	.	.	394;452;464	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	R	394;408;464;452;408	ENSP00000415711:K394R;ENSP00000316739:K408R;ENSP00000316782:K464R;ENSP00000340336:K452R;ENSP00000391865:K408R	ENSP00000316739:K408R	K	+	2	0	NBPF3	21680019	0.004000	0.15560	0.001000	0.08648	0.166000	0.22503	0.073000	0.14640	-0.553000	0.06158	0.102000	0.15555	AAG		0.468	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		3	244	0	0	0	1	0	3	244					G	21807432	A	G	21807432	3	3	193	1	0	0	0	0	1	0	0	0	10197	72	3	3	1433	3	NBPF3	1	21807432	Missense_Mutation	SNP	A	TCGA-EL-A3CN-01A-12D-A20C-08	19539155	21807432	227443189	2	4001											
S100A8	6279	broad.mit.edu	37	chr1	153362715	153362715	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaccagacgtctgcacccTttttctgtcaagattgagga	9	10	3	4			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr1:153362715T>C	ENST00000368733.3	-	3	315	c.146A>G	c.(145-147)aAg>aGg	p.K49R	S100A8_ENST00000477801.1_5'UTR|S100A8_ENST00000368732.1_Missense_Mutation_p.K49R	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8	49	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|acute inflammatory response (GO:0002526)|autophagy (GO:0006914)|chemokine production (GO:0032602)|chronic inflammatory response (GO:0002544)|cytokine production (GO:0001816)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|neutrophil aggregation (GO:0070488)|neutrophil chemotaxis (GO:0030593)|positive regulation of cell growth (GO:0030307)|positive regulation of inflammatory response (GO:0050729)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of cytoskeleton organization (GO:0051493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to zinc ion (GO:0010043)|sequestering of zinc ion (GO:0032119)|wound healing (GO:0042060)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonic acid binding (GO:0050544)|calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|RAGE receptor binding (GO:0050786)|Toll-like receptor 4 binding (GO:0035662)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTCTGCACCCTTTTTCTGTCA	0.507																																						ENST00000368733.3																			0				breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4						c.(145-147)aAg>aGg		S100 calcium binding protein A8							115	115	115					1																	153362715		2203	4300	6503	SO:0001583	missense	6279				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding	g.chr1:153362715T>C	BC005928	CCDS1038.1	1q12-q22	2013-01-10	2006-09-11		ENSG00000143546	ENSG00000143546		"S100 calcium binding proteins", "EF-hand domain containing"	10498	protein-coding gene	gene with protein product		123885	"S100 calcium-binding protein A8 (calgranulin A)", "S100 calcium binding protein A8 (calgranulin A)"	CAGA, CFAG			Standard	NM_002964		Approved	P8, MRP8, 60B8AG, CGLA	uc001fbs.3	P05109	OTTHUMG00000013124	ENST00000368733.3:c.146A>G	1.37:g.153362715T>C	ENSP00000357722:p.Lys49Arg					S100A8_ENST00000477801.1_5'UTR|S100A8_ENST00000368732.1_Missense_Mutation_p.K49R	p.K49R	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	315	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		49			EF-hand 2.		A8K5L3|D3DV37|Q5SY70|Q9UC84|Q9UC92|Q9UCJ0|Q9UCM6	Missense_Mutation	SNP	ENST00000368733.3	37	c.146A>G	CCDS1038.1	.	.	.	.	.	.	.	.	.	.	.	11.89	1.773606	0.31411	.	.	ENSG00000143546	ENST00000368733;ENST00000368732	T;T	0.07021	3.23;3.23	4.37	2.01	0.26516	EF-hand-like domain (1);	0.146302	0.64402	N	0.000011	T	0.01523	0.0049	.	.	.	0.09310	N	1	B	0.18741	0.03	B	0.17098	0.017	T	0.45877	-0.9231	9	0.36615	T	0.2	.	3.8238	0.08846	0.1858:0.1009:0.0:0.7134	.	49	P05109	S10A8_HUMAN	R	49	ENSP00000357722:K49R;ENSP00000357721:K49R	ENSP00000357721:K49R	K	-	2	0	S100A8	151629339	0.137000	0.22531	0.024000	0.17045	0.196000	0.23810	1.062000	0.30555	0.437000	0.26423	0.524000	0.50904	AAG		0.507	S100A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036791.1	NM_002964		3	178	0	0	0	1	0	3	178					C	153362715	T	C	153362715	3	2	193	1	0	0	0	0	1	0	0	0	13786	1609	56	3	139	3	S100A8	1	153362715	Missense_Mutation	SNP	T	TCGA-EL-A3CN-01A-12D-A20C-08	131555283	153362715	95887906	3	4002											
ADAM15	8751	broad.mit.edu	37	chr1	155028663	155028663	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgtcaccctcgaaaacttCctccactggcgcagggcaca	9	16	1	0			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr1:155028663C>T	ENST00000356955.2	+	9	953	c.852C>T	c.(850-852)ttC>ttT	p.F284F	ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000360674.4_Silent_p.F284F|ADAM15_ENST00000531455.1_Silent_p.F294F|ADAM15_ENST00000447332.3_Silent_p.F268F|ADAM15_ENST00000271836.6_Silent_p.F284F|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000368412.3_Silent_p.F284F|ADAM15_ENST00000355956.2_Silent_p.F284F|ADAM15_ENST00000449910.2_Silent_p.F284F|ADAM15_ENST00000359280.4_Silent_p.F284F	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	284	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TCGAAAACTTCCTCCACTGGC	0.622																																						ENST00000356955.2																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39						c.(850-852)ttC>ttT		ADAM metallopeptidase domain 15							79	77	78					1																	155028663		2203	4300	6503	SO:0001819	synonymous_variant	8751				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr1:155028663C>T	U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"ADAM metallopeptidase domain containing"	193	protein-coding gene	gene with protein product	"metargidin"	605548	"a disintegrin and metalloproteinase domain 15 (metargidin)"			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.852C>T	1.37:g.155028663C>T						ADAM15_ENST00000359280.4_Silent_p.F284F|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000368412.3_Silent_p.F284F|ADAM15_ENST00000447332.3_Silent_p.F268F|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000449910.2_Silent_p.F284F|ADAM15_ENST00000531455.1_Silent_p.F294F|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000271836.6_Silent_p.F284F|ADAM15_ENST00000360674.4_Silent_p.F284F|ADAM15_ENST00000355956.2_Silent_p.F284F	p.F284F	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		9	953	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		284			Peptidase M12B.		B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Silent	SNP	ENST00000356955.2	37	c.852C>T	CCDS1087.1																																																																																				0.622	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815		4	117	0	0	0	1	0	4	117					T	155028663	C	T	155028663	2	4	193	1	0	0	0	0	0	0	0	1	237	854	30	2		2	ADAM15	1	155028663	Silent	SNP	C	TCGA-EL-A3CN-01A-12D-A20C-08	1665948	155028663	94221958	4	4003											
SPAST	6683	broad.mit.edu	37	chr2	32312619	32312619	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtattgaagaactggaaaaAggaatagctgttatagttac	11	3	0	2			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr2:32312619A>G	ENST00000315285.3	+	2	599	c.474A>G	c.(472-474)aaA>aaG	p.K158K	SPAST_ENST00000345662.1_Silent_p.K158K|AL121655.1_ENST00000577299.1_RNA	NM_014946.3	NP_055761.2			spastin											breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AACTGGAAAAAGGAATAGCTG	0.318																																						ENST00000315285.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(472-474)aaA>aaG		spastin							133	143	140					2																	32312619		2203	4300	6503	SO:0001819	synonymous_variant	6683				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity	g.chr2:32312619A>G	AJ246001	CCDS1778.1, CCDS1779.1	2p24-p21	2014-09-17	2005-03-15	2005-03-17	ENSG00000021574	ENSG00000021574		"ATPases / AAA-type"	11233	protein-coding gene	gene with protein product		604277	"spastic paraplegia 4 (autosomal dominant; spastin)"	SPG4		10493830, 10610178	Standard	NM_014946		Approved	FSP2, ADPSP, KIAA1083	uc002roc.3	Q9UBP0	OTTHUMG00000128455	ENST00000315285.3:c.474A>G	2.37:g.32312619A>G						SPAST_ENST00000345662.1_Silent_p.K158K	p.K158K	NM_014946.3	NP_055761.2	Q9UBP0	SPAST_HUMAN			2	599	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		158			MIT.|Required for interaction with RTN1.|Required for interaction with microtubules.|Required for midbody localization.|Sufficient for interaction with CHMP1B.			Silent	SNP	ENST00000315285.3	37	c.474A>G	CCDS1778.1																																																																																				0.318	SPAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250253.1	NM_199436		3	166	0	0	0	1	0	3	166					G	32312619	A	G	32312619	2	3	193	1	0	0	0	0	0	0	0	1	14996	69	3	3		3	SPAST	2	32312619	Silent	SNP	A	TCGA-EL-A3CN-01A-12D-A20C-08		32312619	210886754	5	4004											
EPHA4	2043	broad.mit.edu	37	chr2	222428985	222428985	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaatttaatctcaatatacaCcctctgagccccttctcggg	6	13	3	1	rs144149406		TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr2:222428985C>A	ENST00000281821.2	-	3	330	c.289G>T	c.(289-291)Gtg>Ttg	p.V97L	EPHA4_ENST00000409854.1_Missense_Mutation_p.V97L|EPHA4_ENST00000392071.4_Missense_Mutation_p.V46L|EPHA4_ENST00000409938.1_Missense_Mutation_p.V97L	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	97	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TCAATATACACCCTCTGAGCC	0.468													C|||	1	0.000199681	8e-04	0	5008	,	,		18165	0		0	False		,,,				2504	0					ENST00000281821.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(289-291)Gtg>Ttg		EPH receptor A4		C	LEU/VAL	2,4404	4.2+/-10.8	0,2,2201	109	108	108		289	6.2	1.0	2	dbSNP_134	108	0,8600		0,0,4300	no	missense	EPHA4	NM_004438.3	32	0,2,6501	AA,AC,CC		0.0,0.0454,0.0154	possibly-damaging	97/987	222428985	2,13004	2203	4300	6503	SO:0001583	missense	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222428985C>A	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3388	protein-coding gene	gene with protein product		602188	"EphA4"	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.289G>T	2.37:g.222428985C>A	ENSP00000281821:p.Val97Leu					EPHA4_ENST00000392071.4_Missense_Mutation_p.V46L|EPHA4_ENST00000409938.1_Missense_Mutation_p.V97L|EPHA4_ENST00000409854.1_Missense_Mutation_p.V97L	p.V97L	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	3	330	-		Renal(207;0.0183)	97					A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	c.289G>T	CCDS2447.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	19.34	3.808823	0.70797	4.54E-4	0.0	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071;ENST00000419964;ENST00000541600	T;T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71;2.71	6.17	6.17	0.99709	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.26774	0.0655	L	0.58354	1.805	0.80722	D	1	P	0.44309	0.832	P	0.47346	0.544	T	0.00089	-1.2088	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	97	P54764	EPHA4_HUMAN	L	97;97;97;46;38;97	ENSP00000281821:V97L;ENSP00000386276:V97L;ENSP00000386829:V97L;ENSP00000375923:V46L;ENSP00000410158:V38L;ENSP00000444085:V97L	ENSP00000281821:V97L	V	-	1	0	EPHA4	222137229	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GTG		0.468	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			5	214	1	0	0.217242	1	0.221053	5	214					A	222428985	C	A	222428985	3	1	193	1	0	0	0	0	1	0	0	0	5169	507	18	4	2731	4	EPHA4	2	222428985	Missense_Mutation	SNP	C	TCGA-EL-A3CN-01A-12D-A20C-08	190116366	222428985	20770388	6	4005											
ACY1	95	broad.mit.edu	37	chr3	52019429	52019429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggccaggcaccaaccctaCactctcctccatcttgctca	5	19	3	0			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr3:52019429C>T	ENST00000404366.2	+	4	358	c.212C>T	c.(211-213)aCa>aTa	p.T71I	ACY1_ENST00000468068.1_3'UTR|ACY1_ENST00000494103.1_Missense_Mutation_p.T71I|ACY1_ENST00000476351.1_Missense_Mutation_p.T36I|ACY1_ENST00000476854.1_Missense_Mutation_p.T71I|ABHD14B_ENST00000483233.1_5'Flank|ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.T172I|ACY1_ENST00000458031.2_Missense_Mutation_p.T161I	NM_000666.2|NM_001198895.1	NP_000657.1|NP_001185824.1	Q03154	ACY1_HUMAN	aminoacylase 1	71					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acetylcysteine(DB06151)|L-Aspartic Acid(DB00128)	ACCAACCCTACACTCTCCTCC	0.607																																						ENST00000458031.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						c.(481-483)aCa>aTa		aminoacylase 1	L-Aspartic Acid(DB00128)						170	126	141					3																	52019429		2203	4300	6503	SO:0001583	missense	95				cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity	g.chr3:52019429C>T	L07548	CCDS2844.1, CCDS56261.1, CCDS56262.1, CCDS56263.1	3p21.2	2006-02-02			ENSG00000243989	ENSG00000243989	3.5.1.14		177	protein-coding gene	gene with protein product		104620				1707030, 6948533	Standard	NM_000666		Approved		uc003dcq.3	Q03154	OTTHUMG00000157815	ENST00000404366.2:c.212C>T	3.37:g.52019429C>T	ENSP00000384296:p.Thr71Ile					ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.T172I|ACY1_ENST00000476854.1_Missense_Mutation_p.T71I|ACY1_ENST00000476351.1_Missense_Mutation_p.T36I|ACY1_ENST00000468068.1_3'UTR|ACY1_ENST00000404366.2_Missense_Mutation_p.T71I|ACY1_ENST00000494103.1_Missense_Mutation_p.T71I	p.T161I			Q03154	ACY1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	6	713	+			71					C9J6I6|C9J9D8|C9JWD4	Missense_Mutation	SNP	ENST00000404366.2	37	c.482C>T	CCDS2844.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.951286	0.34471	.	.	ENSG00000114786;ENSG00000114786;ENSG00000114786;ENSG00000243989;ENSG00000243989;ENSG00000243989;ENSG00000243989;ENSG00000243989	ENST00000458031;ENST00000463937;ENST00000232907;ENST00000476854;ENST00000476351;ENST00000494103;ENST00000404366;ENST00000469863	D;D;D;D;T;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.15;-1.66;-1.66	4.87	-8.23	0.01033	.	1.958810	0.02212	N	0.063314	T	0.72922	0.3521	L	0.46157	1.445	0.09310	N	1	B;B;B	0.21225	0.053;0.051;0.017	B;B;B	0.16722	0.013;0.016;0.009	T	0.58194	-0.7679	10	0.62326	D	0.03	-10.7987	3.597	0.08010	0.5272:0.1102:0.224:0.1386	.	71;161;71	B4DPC3;B4DNW0;Q03154	.;.;ACY1_HUMAN	I	161;172;71;71;36;71;71;80	ENSP00000390557:T161I;ENSP00000420487:T172I;ENSP00000419262:T71I;ENSP00000417056:T36I;ENSP00000417618:T71I;ENSP00000384296:T71I;ENSP00000419830:T80I	ENSP00000384296:T71I	T	+	2	0	ACY1;RP11-155D18.11	51994469	0.000000	0.05858	0.000000	0.03702	0.959000	0.62525	-3.348000	0.00503	-1.204000	0.02648	0.456000	0.33151	ACA		0.607	ACY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349657.1	NM_000666		47	102	0	0	0	1	0	47	102					T	52019429	C	T	52019429	3	4	193	1	0	0	0	0	1	0	0	0	226	478	17	2	222	2	ACY1	3	52019429	Missense_Mutation	SNP	C	TCGA-EL-A3CN-01A-12D-A20C-08		52019429	146003001	7	4006											
MYLK	4638	broad.mit.edu	37	chr3	123383036	123383036	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagccgcagtgctcctggcGcgcggccaggatggtgagct	17	13	0	1	rs368321325		TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr3:123383036G>A	ENST00000475616.1	-	20	3900	c.3901C>T	c.(3901-3903)Cgc>Tgc	p.R1301C	MYLK_ENST00000346322.5_Missense_Mutation_p.R1232C|MYLK_ENST00000354792.5_Missense_Mutation_p.R101C|MYLK_ENST00000359169.1_Missense_Mutation_p.R1301C|MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000360772.3_Missense_Mutation_p.R1301C|MYLK_ENST00000360304.3_Missense_Mutation_p.R1301C			Q15746	MYLK_HUMAN	myosin light chain kinase	1301	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Ig-like C2-type 8.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGCTCCTGGCGCGCGGCCAGG	0.627																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(3901-3903)Cgc>Tgc		myosin light chain kinase		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	137	131	133		3901,3694,3901,3694	2.8	0.7	3		133	0,8600		0,0,4300	no	missense,missense,missense,missense	MYLK	NM_053025.3,NM_053026.3,NM_053027.3,NM_053028.3	180,180,180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1301/1915,1232/1846,1301/1864,1232/1795	123383036	1,13005	2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123383036G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3901C>T	3.37:g.123383036G>A	ENSP00000418335:p.Arg1301Cys					MYLK_ENST00000360304.3_Missense_Mutation_p.R1301C|MYLK_ENST00000346322.5_Missense_Mutation_p.R1232C|MYLK_ENST00000359169.1_Missense_Mutation_p.R1301C|MYLK_ENST00000354792.5_Missense_Mutation_p.R101C|MYLK_ENST00000475616.1_Missense_Mutation_p.R1301C	p.R1301C			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	24	4279	-		Lung NSC(201;0.0496)	1301			Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.3901C>T	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163382	0.38217	2.27E-4	0.0	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000354792;ENST00000475616;ENST00000508240	T;T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	4.86	2.82	0.32997	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68997	0.3062	L	0.36672	1.1	0.42021	D	0.990989	D;D;D;D;D	0.76494	0.998;0.998;0.997;0.998;0.999	P;D;P;P;D	0.65233	0.854;0.933;0.873;0.864;0.91	T	0.68708	-0.5337	9	0.54805	T	0.06	.	8.9629	0.35858	0.0919:0.0:0.7154:0.1927	.	1301;1232;1301;1232;1301	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	C	1301;1301;1301;1232;101;1301;101	ENSP00000354004:R1301C;ENSP00000353452:R1301C;ENSP00000352088:R1301C;ENSP00000320622:R1232C;ENSP00000346846:R101C;ENSP00000418335:R1301C;ENSP00000422984:R101C	ENSP00000320622:R1232C	R	-	1	0	MYLK	124865726	0.571000	0.26659	0.739000	0.30968	0.887000	0.51463	0.646000	0.24797	1.056000	0.40484	0.655000	0.94253	CGC		0.627	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		40	294	0	0	0	1	0	40	294					A	123383036	G	A	123383036	3	1	193	1	0	0	0	0	1	0	0	0	10056	1087	38	1	1891	1	MYLK	3	123383036	Missense_Mutation	SNP	G	TCGA-EL-A3CN-01A-12D-A20C-08	71363607	123383036	74639394	8	4007											
EPHB1	2047	broad.mit.edu	37	chr3	134873067	134873067	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttgtcatggccacagccGgagcagcccaatggcatcat	10	14	2	0	rs534067316		TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr3:134873067G>A	ENST00000398015.3	+	6	1741	c.1371G>A	c.(1369-1371)ccG>ccA	p.P457P	EPHB1_ENST00000493838.1_Silent_p.P18P	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	457	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGCCACAGCCGGAGCAGCCCA	0.557													G|||	1	0.000199681	0	0	5008	,	,		20256	0.001		0	False		,,,				2504	0					ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(1369-1371)ccG>ccA		EPH receptor B1							139	148	145					3																	134873067		2194	4298	6492	SO:0001819	synonymous_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134873067G>A	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1371G>A	3.37:g.134873067G>A						EPHB1_ENST00000493838.1_Silent_p.P18P	p.P457P	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			6	1741	+			457			Fibronectin type-III 2.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	c.1371G>A	CCDS46921.1																																																																																				0.557	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		4	239	0	0	0	1	0	4	239					A	134873067	G	A	134873067	2	1	193	1	0	0	0	0	0	0	0	1	5174	1103	39	1		1	EPHB1	3	134873067	Silent	SNP	G	TCGA-EL-A3CN-01A-12D-A20C-08	11490031	134873067	63149363	9	4008											
STOX2	56977	broad.mit.edu	37	chr4	184930711	184930711	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgccacccactgaaaagagCaaaagtactgtaaatttttc	7	9	0	2			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr4:184930711C>A	ENST00000308497.4	+	3	2155	c.720C>A	c.(718-720)agC>agA	p.S240R	STOX2_ENST00000438269.1_Missense_Mutation_p.S240R	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	240					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CTGAAAAGAGCAAAAGTACTG	0.443																																						ENST00000308497.4																			0				breast(1)|endometrium(7)|lung(6)	14						c.(718-720)agC>agA		storkhead box 2							32	34	33					4																	184930711		1897	4106	6003	SO:0001583	missense	56977				embryo development|maternal placenta development			g.chr4:184930711C>A	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.720C>A	4.37:g.184930711C>A	ENSP00000311257:p.Ser240Arg					STOX2_ENST00000438269.1_Missense_Mutation_p.S240R	p.S240R	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)	3	2155	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	240					A6H8U4|Q9NPS8	Missense_Mutation	SNP	ENST00000308497.4	37	c.720C>A	CCDS47167.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999212	0.54147	.	.	ENSG00000173320	ENST00000308497;ENST00000438269	T;T	0.79454	-0.28;-1.27	5.55	2.72	0.32119	.	0.120721	0.85682	D	0.000000	T	0.81912	0.4923	L	0.54323	1.7	0.44816	D	0.997823	D	0.67145	0.996	D	0.71656	0.974	T	0.81072	-0.1098	10	0.87932	D	0	-26.7777	7.3976	0.26946	0.0:0.644:0.0:0.356	.	240	Q9P2F5	STOX2_HUMAN	R	240	ENSP00000311257:S240R;ENSP00000390127:S240R	ENSP00000311257:S240R	S	+	3	2	STOX2	185167705	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.061000	0.41403	0.914000	0.36822	0.655000	0.94253	AGC		0.443	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		3	36	1	0	0.150653	1	0.156034	3	36					A	184930711	C	A	184930711	3	1	193	1	0	0	0	0	1	0	0	0	15319	709	25	4	730	4	STOX2	4	184930711	Missense_Mutation	SNP	C	TCGA-EL-A3CN-01A-12D-A20C-08		184930711	6223565	10	4009											
COL11A2	1302	broad.mit.edu	37	chr6	33146121	33146121	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgaggcccaatctccccGtcatctccctggaggaggag	11	16	3	0	rs41266697	byFrequency	TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr6:33146121G>A	ENST00000374708.4	-	18	1782	c.1524C>T	c.(1522-1524)gaC>gaT	p.D508D	COL11A2_ENST00000374714.1_Silent_p.D568D|COL11A2_ENST00000395197.1_Silent_p.D534D|COL11A2_ENST00000341947.2_Silent_p.D594D|COL11A2_ENST00000477772.1_5'Flank|COL11A2_ENST00000361917.1_Silent_p.D487D|COL11A2_ENST00000374713.1_Silent_p.D547D|COL11A2_ENST00000357486.1_Silent_p.D573D|COL11A2_ENST00000374712.1_Silent_p.D513D	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	594	Collagen-like 2.|Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CAATCTCCCCGTCATCTCCCT	0.632													g|||	21	0.00419329	0.0045	0	5008	,	,		16144	0.002		0.007	False		,,,				2504	0.0061				Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(1780-1782)gaC>gaT		collagen, type XI, alpha 2		G	,,	13,3009		0,13,1498	119	111	114		1461,1782,1524	-1.2	0.4	6	dbSNP_127	114	36,5382		0,36,2673	no	coding-synonymous,coding-synonymous,coding-synonymous	COL11A2	NM_080679.2,NM_080680.2,NM_080681.2	,,	0,49,4171	AA,AG,GG		0.6645,0.4302,0.5806	,,	487/1630,594/1737,508/1651	33146121	49,8391	1511	2709	4220	SO:0001819	synonymous_variant	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33146121G>A	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"Collagens"	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.1524C>T	6.37:g.33146121G>A						COL11A2_ENST00000395197.1_Silent_p.D534D|COL11A2_ENST00000374713.1_Silent_p.D547D|COL11A2_ENST00000361917.1_Silent_p.D487D|COL11A2_ENST00000374714.1_Silent_p.D568D|COL11A2_ENST00000374712.1_Silent_p.D513D|COL11A2_ENST00000357486.1_Silent_p.D573D|COL11A2_ENST00000374708.4_Silent_p.D508D	p.D594D	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			20	2009	-			594			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Silent	SNP	ENST00000374708.4	37	c.1782C>T	CCDS43452.1																																																																																				0.632	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			8	199	0	0	0	1	0	8	199					A	33146121	G	A	33146121	2	1	193	1	0	0	0	0	0	0	0	1	3668	1136	40	1		1	COL11A2	6	33146121	Silent	SNP	G	TCGA-EL-A3CN-01A-12D-A20C-08		33146121	137968946	11	4010											
PKHD1	5314	broad.mit.edu	37	chr6	51619708	51619708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactattttgtcatgggggcGccaatccactgcatcttcta	9	11	3	0	rs148990124		TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr6:51619708G>A	ENST00000371117.3	-	56	8946	c.8671C>T	c.(8671-8673)Cgc>Tgc	p.R2891C	PKHD1_ENST00000340994.4_Missense_Mutation_p.R2891C	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2891					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCATGGGGGCGCCAATCCACT	0.438																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(8671-8673)Cgc>Tgc		polycystic kidney and hepatic disease 1 (autosomal recessive)		G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	154	145	148		8671,8671	1.0	0.6	6	dbSNP_134	148	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PKHD1	NM_138694.3,NM_170724.2	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	2891/4075,2891/3397	51619708	1,13005	2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51619708G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.8671C>T	6.37:g.51619708G>A	ENSP00000360158:p.Arg2891Cys					PKHD1_ENST00000340994.4_Missense_Mutation_p.R2891C	p.R2891C	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			56	8946	-	Lung NSC(77;0.0605)		2891					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.8671C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.492498	0.44352	0.0	1.16E-4	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.83992	-1.79;-1.79	5.63	0.971	0.19698	.	0.940169	0.08899	N	0.877580	T	0.79393	0.4438	M	0.68593	2.085	0.25350	N	0.988874	D;D;D	0.71674	0.998;0.998;0.995	P;P;P	0.53146	0.549;0.719;0.549	T	0.68112	-0.5495	10	0.72032	D	0.01	.	10.3821	0.44119	0.0:0.112:0.2551:0.6329	.	2891;2891;2891	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	C	2891	ENSP00000360158:R2891C;ENSP00000341097:R2891C	ENSP00000341097:R2891C	R	-	1	0	PKHD1	51727667	0.353000	0.24904	0.631000	0.29282	0.417000	0.31264	0.475000	0.22164	0.364000	0.24374	-0.182000	0.12963	CGC		0.438	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		26	197	0	0	0	1	0	26	197					A	51619708	G	A	51619708	3	1	193	1	0	0	0	0	1	0	0	0	11971	1087	38	1	3640	1	PKHD1	6	51619708	Missense_Mutation	SNP	G	TCGA-EL-A3CN-01A-12D-A20C-08	18473587	51619708	119495359	12	4011											
DLL1	28514	broad.mit.edu	37	chr6	170594187	170594187	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagattttgccgtagaagcCgggtgggcaggtacaggagt	16	7	0	2			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr6:170594187C>T	ENST00000366756.3	-	8	1402	c.1069G>A	c.(1069-1071)Ggc>Agc	p.G357S		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	357	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CCGTAGAAGCCGGGTGGGCAG	0.557																																						ENST00000366756.3																			0				NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33						c.(1069-1071)Ggc>Agc		delta-like 1 (Drosophila)							68	65	66					6																	170594187		2203	4300	6503	SO:0001583	missense	28514				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	g.chr6:170594187C>T	AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"delta (Drosophila)-like 1"				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.1069G>A	6.37:g.170594187C>T	ENSP00000355718:p.Gly357Ser						p.G357S	NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)	8	1402	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	357			EGF-like 4; calcium-binding (Potential).		B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Missense_Mutation	SNP	ENST00000366756.3	37	c.1069G>A	CCDS5313.1	.	.	.	.	.	.	.	.	.	.	C	36	5.621689	0.96660	.	.	ENSG00000198719	ENST00000366756	D	0.98192	-4.78	5.09	5.09	0.68999	EGF (1);EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.096235	0.64402	D	0.000001	D	0.98918	0.9633	M	0.87971	2.92	0.80722	D	1	D	0.71674	0.998	D	0.63877	0.919	D	0.99474	1.0946	10	0.62326	D	0.03	.	18.5281	0.90980	0.0:1.0:0.0:0.0	.	357	O00548	DLL1_HUMAN	S	357	ENSP00000355718:G357S	ENSP00000355718:G357S	G	-	1	0	DLL1	170436112	1.000000	0.71417	0.980000	0.43619	0.950000	0.60333	7.751000	0.85126	2.393000	0.81446	0.585000	0.79938	GGC		0.557	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1			4	99	0	0	0	1	0	4	99					T	170594187	C	T	170594187	3	4	193	1	0	0	0	0	1	0	0	0	4566	652	23	1	1118	1	DLL1	6	170594187	Missense_Mutation	SNP	C	TCGA-EL-A3CN-01A-12D-A20C-08	118974479	170594187	520880	13	4012											
GTF2IRD2	84163	broad.mit.edu	37	chr7	74212378	74212378	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagagatacttcctgagcccTtttttcagctcgtgaagctt	8	10	1	3			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr7:74212378T>C	ENST00000405086.2	-	16	1662	c.1473A>G	c.(1471-1473)aaA>aaG	p.K491K	GTF2IRD2_ENST00000451013.2_Silent_p.K38K	NM_173537.2	NP_775808	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	491					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						tcctgagcccttttttcagct	0.468																																					NSCLC(40;560 1096 7501 40315 49546)	ENST00000405086.2																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						c.(1471-1473)aaA>aaG		GTF2I repeat domain containing 2							141	117	125					7																	74212378		2203	4299	6502	SO:0001819	synonymous_variant	84163				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:74212378T>C	BC047706	CCDS5576.1, CCDS64682.1	7q11.23	2014-05-06			ENSG00000196275	ENSG00000196275			30775	protein-coding gene	gene with protein product	"transcription factor GTF2IRD2"	608899				15243160	Standard	NM_173537		Approved	FLJ37938, GTF2IRD2A	uc003ubd.1	Q86UP8	OTTHUMG00000181527	ENST00000405086.2:c.1473A>G	7.37:g.74212378T>C						GTF2IRD2_ENST00000451013.2_Silent_p.K38K	p.K491K	NM_173537.2	NP_775808.2	Q86UP8	GTD2A_HUMAN			16	1662	-			491					A8K5W6|B3KUZ2|Q69G40|Q6EKI8|Q6EKI9|Q6NVW2|Q6P7N8|Q86WX4|Q8ND85|Q8NDE5	Silent	SNP	ENST00000405086.2	37	c.1473A>G	CCDS5576.1																																																																																				0.468	GTF2IRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252712.3	NM_173537		3	202	0	0	0	1	0	3	202					C	74212378	T	C	74212378	2	2	193	1	0	0	0	0	0	0	0	1	6869	1606	56	3		3	GTF2IRD2	7	74212378	Silent	SNP	T	TCGA-EL-A3CN-01A-12D-A20C-08		74212378	84926285	14	4013											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		40	80	0	0	0	1	0	40	80					T	140453136	A	T	140453136	3	4	193	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3CN-01A-12D-A20C-08	66240758	140453136	18685527	15	4014											
SH3GLB2	56904	broad.mit.edu	37	chr9	131777178	131777178	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctgccaccttgatcagtgTcttccctgagaaaacagagt	8	11	3	3			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr9:131777178T>C	ENST00000372564.3	-	4	485	c.340A>G	c.(340-342)Aca>Gca	p.T114A	SH3GLB2_ENST00000372554.4_Missense_Mutation_p.T114A|SH3GLB2_ENST00000372559.1_Missense_Mutation_p.T114A|SH3GLB2_ENST00000416629.1_Missense_Mutation_p.T114A|SH3GLB2_ENST00000417224.1_Missense_Mutation_p.T114A	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	114	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.					cytoplasm (GO:0005737)				NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						TTGATCAGTGTCTTCCCTGAG	0.532																																						ENST00000372564.3																			0				NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						c.(340-342)Aca>Gca		SH3-domain GRB2-like endophilin B2							96	101	99					9																	131777178		2203	4300	6503	SO:0001583	missense	56904				filopodium assembly|signal transduction	cytoplasm|nucleus	cytoskeletal adaptor activity|SH3 domain binding	g.chr9:131777178T>C	AF257319	CCDS6916.1, CCDS69680.1	9q34	2008-02-05	2001-12-04		ENSG00000148341	ENSG00000148341			10834	protein-coding gene	gene with protein product		609288	"SH3-domain, GRB2-like, endophilin B2"			11161816	Standard	NM_020145		Approved	KIAA1848	uc004bwv.3	Q9NR46	OTTHUMG00000020769	ENST00000372564.3:c.340A>G	9.37:g.131777178T>C	ENSP00000361645:p.Thr114Ala					SH3GLB2_ENST00000372559.1_Missense_Mutation_p.T114A|SH3GLB2_ENST00000416629.1_Missense_Mutation_p.T114A|SH3GLB2_ENST00000372554.4_Missense_Mutation_p.T114A|SH3GLB2_ENST00000417224.1_Missense_Mutation_p.T114A	p.T114A	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN			4	485	-			114			BAR.		A6NC47|A8MPS4|Q8WY61|Q96JH9	Missense_Mutation	SNP	ENST00000372564.3	37	c.340A>G	CCDS6916.1	.	.	.	.	.	.	.	.	.	.	T	8.539	0.872844	0.17322	.	.	ENSG00000148341	ENST00000372564;ENST00000372559;ENST00000543311;ENST00000372554;ENST00000417224;ENST00000416629	T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88	5.45	5.45	0.79879	BAR (3);IRSp53/MIM homology domain (IMD) (1);	0.000000	0.85682	D	0.000000	T	0.17023	0.0409	N	0.16656	0.425	0.80722	D	1	P;B	0.45283	0.855;0.004	B;B	0.43950	0.437;0.01	T	0.03051	-1.1078	10	0.02654	T	1	1.5118	14.9827	0.71321	0.0:0.0:0.0:1.0	.	114;114	Q9NR46-2;Q9NR46	.;SHLB2_HUMAN	A	114	ENSP00000361645:T114A;ENSP00000361640:T114A;ENSP00000361634:T114A;ENSP00000402566:T114A;ENSP00000388282:T114A	ENSP00000361634:T114A	T	-	1	0	SH3GLB2	130816999	1.000000	0.71417	0.991000	0.47740	0.957000	0.61999	3.161000	0.50747	2.196000	0.70406	0.533000	0.62120	ACA		0.532	SH3GLB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054535.2			62	149	0	0	0	1	0	62	149					C	131777178	T	C	131777178	3	2	193	1	0	0	0	0	1	0	0	0	14254	1667	58	3	879	3	SH3GLB2	9	131777178	Missense_Mutation	SNP	T	TCGA-EL-A3CN-01A-12D-A20C-08		131777178	9436253	16	4015											
FTH1	2495	broad.mit.edu	37	chr11	61732517	61732517	+	Frame_Shift_Del	DEL	T	T	-													ccagtagtgactgattcacaTttttttccaaatgtaatgca							TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr11:61732517delT	ENST00000273550.7	-	3	563	c.329delA	c.(328-330)aatfs	p.N110fs	FTH1_ENST00000529631.1_Intron|FTH1_ENST00000529191.1_Intron|FTH1_ENST00000526640.1_Frame_Shift_Del_p.N80fs|FTH1_ENST00000532601.1_Frame_Shift_Del_p.N40fs|BEST1_ENST00000449131.2_3'UTR|AP003733.1_ENST00000601917.1_5'Flank	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	110	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|intracellular sequestering of iron ion (GO:0006880)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)|iron ion binding (GO:0005506)			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	CTGATTCACATTTTTTTCCAA	0.423																																						ENST00000273550.7																			0				NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(328-330)atfs		ferritin, heavy polypeptide 1	Iron Dextran(DB00893)						193	185	188					11																	61732517		1894	4106	6000	SO:0001589	frameshift_variant	2495				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding	g.chr11:61732517delT		CCDS41655.1	11q13	2012-10-02			ENSG00000167996	ENSG00000167996			3976	protein-coding gene	gene with protein product	"apoferritin", "placenta immunoregulatory factor", "proliferation-inducing protein 15"	134770		FTHL6		3020541	Standard	NM_002032		Approved	FTH, PLIF, PIG15, FHC	uc001nsu.3	P02794		ENST00000273550.7:c.329delA	11.37:g.61732517delT	ENSP00000273550:p.Asn110fs					BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000532601.1_Frame_Shift_Del_p.N40fs|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000529191.1_Intron|FTH1_ENST00000526640.1_Frame_Shift_Del_p.N80fs	p.N110fs	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN			3	563	-			110			Ferritin-like diiron.		B3KNR5|Q3KRA8|Q3SWW1	Frame_Shift_Del	DEL	ENST00000273550.7	37	c.329delA	CCDS41655.1																																																																																				0.423	FTH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388444.1	NM_002032		7	498						7	498	---	---	---	---	-	61732517	T	-	61732517	7	5	193	1	0	1	0	1	0	0	0	0	6082	1493	52	0	230	0	FTH1	11	61732517	Frame_Shift_Del	DEL	T	TCGA-EL-A3CN-01A-12D-A20C-08		61732517	73273999	17	4016											
CCDC67	159989	broad.mit.edu	37	chr11	93103317	93103317	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatttctttagatgctcaaCaaaaattattatctgagaag	6	5	3	3			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr11:93103317C>T	ENST00000298050.3	+	6	611	c.511C>T	c.(511-513)Caa>Taa	p.Q171*		NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	171					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				AGATGCTCAACAAAAATTATT	0.308																																						ENST00000298050.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(511-513)Caa>Taa		coiled-coil domain containing 67							53	53	53					11																	93103317		1800	4065	5865	SO:0001587	stop_gained	159989							g.chr11:93103317C>T	AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.511C>T	11.37:g.93103317C>T	ENSP00000298050:p.Gln171*						p.Q171*	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN			6	611	+		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)	171					Q8NEF1|Q96LL7	Nonsense_Mutation	SNP	ENST00000298050.3	37	c.511C>T	CCDS44707.1	.	.	.	.	.	.	.	.	.	.	C	37	6.148073	0.97324	.	.	ENSG00000165325	ENST00000534747;ENST00000298050;ENST00000532819	.	.	.	5.5	5.5	0.81552	.	0.090066	0.48767	D	0.000172	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3873	0.60803	0.157:0.843:0.0:0.0	.	.	.	.	X	171	.	ENSP00000298050:Q171X	Q	+	1	0	CCDC67	92742965	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.242000	0.51384	2.584000	0.87258	0.563000	0.77884	CAA		0.308	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181645		8	14	0	0	0	1	0	8	14					T	93103317	C	T	93103317	4	4	193	1	0	0	0	0	0	1	0	0	2839	479	17	2	529	2	CCDC67	11	93103317	Nonsense_Mutation	SNP	C	TCGA-EL-A3CN-01A-12D-A20C-08	31370800	93103317	41903199	18	4017											
TEX12	56158	broad.mit.edu	37	chr11	112040055	112040055	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggccaagagaattggagGtaagctgtatgcctatggag	15	5	0	2			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr11:112040055G>A	ENST00000280358.4	+	2	195		c.e2+1		TEX12_ENST00000530752.1_Splice_Site|SDHD_ENST00000532699.1_Intron|RP11-356J5.4_ENST00000527589.1_RNA|SDHD_ENST00000525468.1_Splice_Site|AP002884.3_ENST00000532612.1_5'Flank	NM_031275.4	NP_112565.1	Q9BXU0	TEX12_HUMAN	testis expressed 12						meiotic DNA repair synthesis (GO:0000711)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				endometrium(1)|large_intestine(2)|lung(1)	4		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.2e-06)|BRCA - Breast invasive adenocarcinoma(274;1.4e-06)|all cancers(92;1.97e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		AGAATTGGAGGTAAGCTGTAT	0.373																																						ENST00000280358.4																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.e2+1		testis expressed 12							205	221	216					11																	112040055		2201	4297	6498	SO:0001630	splice_region_variant	56158							g.chr11:112040055G>A	AF285600	CCDS31679.1	11q23.1	2013-09-20	2007-03-13						11734	protein-coding gene	gene with protein product		605791	"testis expressed sequence 12"			11279525	Standard	NM_031275		Approved		uc001pnc.3	Q9BXU0		ENST00000280358.4:c.63+1G>A	11.37:g.112040055G>A						SDHD_ENST00000532699.1_Intron|TEX12_ENST00000530752.1_Splice_Site|RP11-356J5.4_ENST00000527589.1_RNA		NM_031275.4	NP_112565.1	Q9BXU0	TEX12_HUMAN		Epithelial(105;1.2e-06)|BRCA - Breast invasive adenocarcinoma(274;1.4e-06)|all cancers(92;1.97e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)	2	195	+		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)						A6NDL9|B0YIX3	Splice_Site	SNP	ENST00000280358.4	37		CCDS31679.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.289894	0.23478	.	.	ENSG00000150783	ENST00000530752;ENST00000280358	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.511	0.67787	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TEX12	111545265	1.000000	0.71417	1.000000	0.80357	0.075000	0.17131	4.383000	0.59600	2.880000	0.98712	0.650000	0.86243	.		0.373	TEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392417.1		Intron	4	147	0	0	0	1	0	4	147					A	112040055	G	A	112040055	5	1	193	1	0	0	0	0	0	0	1	0	15772	1275	44	2	66	2	TEX12	11	112040055	Splice_Site	SNP	G	TCGA-EL-A3CN-01A-12D-A20C-08	18936738	112040055	22966461	19	4018											
SCYL2	55681	broad.mit.edu	37	chr12	100704966	100704966	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcaaccaatccttctgaaCaagaggtaatgaaagtttta	6	8	2	3			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr12:100704966C>A	ENST00000360820.2	+	5	1062	c.625C>A	c.(625-627)Caa>Aaa	p.Q209K		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	209	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TCCTTCTGAACAAGAGGTAAT	0.348																																						ENST00000360820.2																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						c.(625-627)Caa>Aaa		SCY1-like 2 (S. cerevisiae)							77	81	80					12																	100704966		2203	4298	6501	SO:0001583	missense	55681				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	g.chr12:100704966C>A	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.625C>A	12.37:g.100704966C>A	ENSP00000354061:p.Gln209Lys						p.Q209K	NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN			5	1062	+			209			Protein kinase.		A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	ENST00000360820.2	37	c.625C>A	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	C	6.946	0.544410	0.13312	.	.	ENSG00000136021	ENST00000549687;ENST00000548392;ENST00000258506;ENST00000360820	T;T	0.29397	1.88;1.57	5.18	5.18	0.71444	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.175272	0.50627	D	0.000108	T	0.24699	0.0599	L	0.33093	0.98	0.43662	D	0.996081	B	0.15719	0.014	B	0.22152	0.038	T	0.09164	-1.0687	10	0.05833	T	0.94	.	19.0613	0.93095	0.0:1.0:0.0:0.0	.	209	Q6P3W7	SCYL2_HUMAN	K	209;36;36;209	ENSP00000448366:Q209K;ENSP00000354061:Q209K	ENSP00000258506:Q36K	Q	+	1	0	SCYL2	99229097	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.604000	0.61112	2.563000	0.86464	0.650000	0.86243	CAA		0.348	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		3	95	1	0	0.00909568	1	0.00976943	3	95					A	100704966	C	A	100704966	3	1	193	1	0	0	0	0	1	0	0	0	13948	479	17	4	639	4	SCYL2	12	100704966	Missense_Mutation	SNP	C	TCGA-EL-A3CN-01A-12D-A20C-08		100704966	33146929	20	4019											
ASCL1	429	broad.mit.edu	37	chr12	103352503	103352503	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgagtaaggtggagacactgCgctcggcggtcgagtacatc	15	9	0	2			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr12:103352503C>A	ENST00000266744.3	+	1	1040	c.481C>A	c.(481-483)Cgc>Agc	p.R161S		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	161	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				adrenal chromaffin cell differentiation (GO:0061104)|carotid body glomus cell differentiation (GO:0061103)|cell maturation (GO:0048469)|cellular response to magnetism (GO:0071259)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|lung epithelial cell differentiation (GO:0060487)|lung neuroendocrine cell differentiation (GO:0061100)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroblast fate determination (GO:0007400)|neuroblast proliferation (GO:0007405)|neurogenesis (GO:0022008)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron fate commitment (GO:0003359)|Notch signaling pathway (GO:0007219)|olfactory pit development (GO:0060166)|oligodendrocyte development (GO:0014003)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial cell differentiation (GO:0030856)|regulation of gene expression (GO:0010468)|regulation of mitotic cell cycle (GO:0007346)|regulation of timing of subpallium neuron differentiation (GO:0060165)|response to epidermal growth factor (GO:0070849)|response to folic acid (GO:0051593)|response to lithium ion (GO:0010226)|response to retinoic acid (GO:0032526)|spinal cord association neuron differentiation (GO:0021527)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|stomach neuroendocrine cell differentiation (GO:0061102)|subpallium neuron fate commitment (GO:0060163)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)|vestibular nucleus development (GO:0021750)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)			NS(3)|large_intestine(1)|lung(1)	5						GGAGACACTGCGCTCGGCGGT	0.657																																						ENST00000266744.3																			0				NS(3)|large_intestine(1)|lung(1)	5						c.(481-483)Cgc>Agc		achaete-scute family bHLH transcription factor 1							40	36	37					12																	103352503		2203	4300	6503	SO:0001583	missense	429				cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity	g.chr12:103352503C>A	L08424	CCDS31886.1	12q22-q23	2013-10-17	2013-10-17			ENSG00000139352		"Basic helix-loop-helix proteins"	738	protein-coding gene	gene with protein product		100790	"achaete-scute complex (Drosophila) homolog-like 1", "achaete-scute complex-like 1 (Drosophila)", "achaete-scute complex homolog 1 (Drosophila)"			8390674	Standard	NM_004316		Approved	ASH1, HASH1, bHLHa46	uc001tjr.4	P50553		ENST00000266744.3:c.481C>A	12.37:g.103352503C>A	ENSP00000266744:p.Arg161Ser						p.R161S	NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN			1	1040	+			161			Helix-loop-helix motif.		A8K3C4|Q9BQ30	Missense_Mutation	SNP	ENST00000266744.3	37	c.481C>A	CCDS31886.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.935977	0.73442	.	.	ENSG00000139352	ENST00000266744	D	0.98164	-4.76	4.65	4.65	0.58169	Helix-loop-helix DNA-binding (5);	0.000000	0.64402	U	0.000001	D	0.99208	0.9725	H	0.95850	3.73	0.80722	D	1	D	0.61697	0.99	P	0.61800	0.894	D	0.99010	1.0814	10	0.87932	D	0	-12.7016	17.148	0.86771	0.0:1.0:0.0:0.0	.	161	P50553	ASCL1_HUMAN	S	161	ENSP00000266744:R161S	ENSP00000266744:R161S	R	+	1	0	ASCL1	101876633	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	7.568000	0.82369	2.133000	0.65898	0.462000	0.41574	CGC		0.657	ASCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406707.1			3	58	1	0	1	1	1	3	58					A	103352503	C	A	103352503	3	1	193	1	0	0	0	0	1	0	0	0	1034	768	27	4	483	4	ASCL1	12	103352503	Missense_Mutation	SNP	C	TCGA-EL-A3CN-01A-12D-A20C-08	2647537	103352503	30499392	21	4020											
TPTE2	93492	broad.mit.edu	37	chr13	20048099	20048099	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	catccatgagaaaaaataagCcaatagctagagaaatagaa	7	6	0	3	rs201242841		TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr13:20048099C>G	ENST00000400230.2	-	6	391	c.347G>C	c.(346-348)gGc>gCc	p.G116A	TPTE2_ENST00000382978.1_Missense_Mutation_p.G116A|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000255310.6_Missense_Mutation_p.G79A|TPTE2_ENST00000382975.4_Missense_Mutation_p.G116A|TPTE2_ENST00000390680.2_Missense_Mutation_p.G79A|TPTE2_ENST00000382977.4_Missense_Mutation_p.G116A			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	116					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.G116A(1)|p.G79A(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AAAAAATAAGCCAATAGCTAG	0.343																																						ENST00000400230.2																			2	Substitution - Missense(2)	p.G116A(1)|p.G79A(1)	endometrium(2)	NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(346-348)gGc>gCc		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							50	56	54					13																	20048099		2201	4296	6497	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20048099C>G	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.347G>C	13.37:g.20048099C>G	ENSP00000383089:p.Gly116Ala					TPTE2_ENST00000382978.1_Missense_Mutation_p.G116A|TPTE2_ENST00000382977.4_Missense_Mutation_p.G116A|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000255310.6_Missense_Mutation_p.G79A|TPTE2_ENST00000390680.2_Missense_Mutation_p.G79A|TPTE2_ENST00000382975.4_Missense_Mutation_p.G116A|TPTE2_ENST00000457266.2_Intron	p.G116A			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	6	391	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	116					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.347G>C	CCDS45014.1	252	0.11538461538461539	36	0.07317073170731707	19	0.052486187845303865	102	0.17832167832167833	95	0.12532981530343007	c	0	-2.627908	0.00115	.	.	ENSG00000132958	ENST00000382978;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000343548	D;D;D;D;D;D	0.98329	-4.32;-4.87;-4.32;-4.32;-4.87;-4.32	2.33	-2.37	0.06643	Ion transport (1);	0.296377	0.32503	N	0.006020	T	0.00695	0.0023	N	0.00104	-2.125	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.71702	-0.4513	9	.	.	.	-8.0858	6.9032	0.24295	0.0:0.5353:0.283:0.1817	.	79;116	Q6XPS3-3;Q6XPS3	.;TPTE2_HUMAN	A	116;116;79;79;116;116;116	ENSP00000372438:G116A;ENSP00000383089:G116A;ENSP00000255310:G79A;ENSP00000375098:G79A;ENSP00000372437:G116A;ENSP00000372435:G116A	.	G	-	2	0	TPTE2	18946099	0.991000	0.36638	0.001000	0.08648	0.000000	0.00434	1.799000	0.38824	-0.680000	0.05211	-1.933000	0.00509	GGC		0.343	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		3	129	0	0	0	1	0	3	129					G	20048099	C	G	20048099	3	3	193	1	0	0	0	0	1	0	0	0	16428	739	26	4	1281	4	TPTE2	13	20048099	Missense_Mutation	SNP	C	TCGA-EL-A3CN-01A-12D-A20C-08		20048099	95121779	22	4021											
ATP7B	540	broad.mit.edu	37	chr13	52548923	52548923	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccctccacccggagcttgaCcacagcctcctgggcaggca	11	18	0	1	rs183365083		TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr13:52548923C>A	ENST00000242839.4	-	2	589	c.433G>T	c.(433-435)Gtc>Ttc	p.V145F	ATP7B_ENST00000344297.5_Missense_Mutation_p.V145F|ATP7B_ENST00000482841.1_5'Flank|ATP7B_ENST00000542656.1_Missense_Mutation_p.V113F|ATP7B_ENST00000400366.3_Missense_Mutation_p.V145F|ATP7B_ENST00000400370.3_Missense_Mutation_p.V145F|ATP7B_ENST00000418097.2_Missense_Mutation_p.V145F|ATP7B_ENST00000448424.2_Missense_Mutation_p.V145F	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	145	HMA 2. {ECO:0000255|PROSITE- ProRule:PRU00280}.				cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CGGAGCTTGACCACAGCCTCC	0.577									Wilson disease																													ENST00000242839.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55						c.(433-435)Gtc>Ttc		ATPase, Cu++ transporting, beta polypeptide							50	51	51					13																	52548923		2008	4173	6181	SO:0001583	missense	540	Wilson disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52548923C>A	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"ATPases / P-type"	870	protein-coding gene	gene with protein product	"Wilson disease", "copper pump 2", "copper-transporting ATPase 2"	606882	"ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.433G>T	13.37:g.52548923C>A	ENSP00000242839:p.Val145Phe					ATP7B_ENST00000400370.3_Missense_Mutation_p.V145F|ATP7B_ENST00000400366.3_Missense_Mutation_p.V145F|ATP7B_ENST00000448424.2_Missense_Mutation_p.V145F|ATP7B_ENST00000344297.5_Missense_Mutation_p.V145F|ATP7B_ENST00000418097.2_Missense_Mutation_p.V145F|ATP7B_ENST00000542656.1_Missense_Mutation_p.V113F	p.V145F	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	2	589	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	145			HMA 2.		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	c.433G>T	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.505318	0.64410	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000448424;ENST00000400370;ENST00000418097;ENST00000542656	D;D;D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36;-2.36;-2.36	5.79	3.73	0.42828	Heavy metal-associated domain, HMA (2);	0.580940	0.19317	N	0.117230	D	0.92512	0.7622	M	0.64997	1.995	0.38566	D	0.949822	D;D;B;D;D;P;D;B	0.76494	0.975;0.961;0.213;0.979;0.999;0.936;0.99;0.151	P;P;B;P;D;P;D;B	0.76575	0.885;0.864;0.18;0.823;0.988;0.637;0.923;0.097	D	0.93144	0.6544	10	0.72032	D	0.01	-22.3657	11.3369	0.49509	0.0:0.7332:0.0:0.2668	.	113;145;145;145;145;145;145;145	F6XIH0;E7ET55;B7ZLR4;F5H748;F5H562;P35670-3;P35670-2;P35670	.;.;.;.;.;.;.;ATP7B_HUMAN	F	145;145;145;145;145;145;113	ENSP00000242839:V145F;ENSP00000383217:V145F;ENSP00000342559:V145F;ENSP00000416738:V145F;ENSP00000383221:V145F;ENSP00000393343:V145F;ENSP00000443128:V113F	ENSP00000242839:V145F	V	-	1	0	ATP7B	51446924	1.000000	0.71417	0.984000	0.44739	0.920000	0.55202	1.455000	0.35190	1.438000	0.47492	0.561000	0.74099	GTC		0.577	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		16	56	1	0	2.94398e-08	1	3.34806e-08	16	56					A	52548923	C	A	52548923	3	1	193	1	0	0	0	0	1	0	0	0	1191	507	18	4	4044	4	ATP7B	13	52548923	Missense_Mutation	SNP	C	TCGA-EL-A3CN-01A-12D-A20C-08	32500824	52548923	62620955	23	4022											
OR11G2	390439	broad.mit.edu	37	chr14	20666079	20666079	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttggtttcatctggttcttGattcctatcgtcaacatctc	6	11	5	1			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr14:20666079G>A	ENST00000357366.3	+	1	585	c.585G>A	c.(583-585)ttG>ttA	p.L195L		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TCTGGTTCTTGATTCCTATCG	0.453																																						ENST00000357366.3																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(583-585)ttG>ttA		olfactory receptor, family 11, subfamily G, member 2							115	96	103					14																	20666079		2203	4300	6503	SO:0001819	synonymous_variant	390439				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20666079G>A		CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"GPCR / Class A : Olfactory receptors"	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.585G>A	14.37:g.20666079G>A							p.L195L	NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	585	+	all_cancers(95;0.00108)		195					Q6IF09|Q96R33	Silent	SNP	ENST00000357366.3	37	c.585G>A	CCDS32032.1																																																																																				0.453	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1			6	54	0	0	0	1	0	6	54					A	20666079	G	A	20666079	2	1	193	1	0	0	0	0	0	0	0	1	10925	1281	45	2		2	OR11G2	14	20666079	Silent	SNP	G	TCGA-EL-A3CN-01A-12D-A20C-08		20666079	86683461	24	4023											
DAAM1	23002	broad.mit.edu	37	chr14	59791100	59791100	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttagacttcatcttcgctAtgaatttctgatgttaggaa	7	7	3	3			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr14:59791100A>G	ENST00000395125.1	+	7	940	c.917A>G	c.(916-918)tAt>tGt	p.Y306C	DAAM1_ENST00000351081.1_Missense_Mutation_p.Y306C|DAAM1_ENST00000360909.3_Missense_Mutation_p.Y306C	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	306	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CATCTTCGCTATGAATTTCTG	0.289																																						ENST00000395125.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(916-918)tAt>tGt		dishevelled associated activator of morphogenesis 1							88	92	91					14																	59791100		2203	4300	6503	SO:0001583	missense	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59791100A>G	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.917A>G	14.37:g.59791100A>G	ENSP00000378557:p.Tyr306Cys					DAAM1_ENST00000360909.3_Missense_Mutation_p.Y306C|DAAM1_ENST00000351081.1_Missense_Mutation_p.Y306C	p.Y306C	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	7	940	+			306			GBD/FH3.		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	c.917A>G	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	A	15.99	2.994413	0.54041	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	D;D;D	0.83992	-1.79;-1.79;-1.79	5.17	4.01	0.46588	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.88897	0.6562	M	0.81942	2.565	0.80722	D	1	D;D	0.63880	0.992;0.993	P;P	0.61477	0.823;0.889	D	0.87709	0.2565	10	0.39692	T	0.17	.	11.4046	0.49889	0.8644:0.0:0.0:0.1355	.	306;306	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	C	306	ENSP00000354162:Y306C;ENSP00000247170:Y306C;ENSP00000378557:Y306C	ENSP00000247170:Y306C	Y	+	2	0	DAAM1	58860853	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.107000	0.94261	0.962000	0.38057	0.533000	0.62120	TAT		0.289	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		42	101	0	0	0	1	0	42	101					G	59791100	A	G	59791100	3	3	193	1	0	0	0	0	1	0	0	0	4215	449	16	3	943	3	DAAM1	14	59791100	Missense_Mutation	SNP	A	TCGA-EL-A3CN-01A-12D-A20C-08	39125021	59791100	47558440	25	4024											
COG8	84342	broad.mit.edu	37	chr16	69366649	69366649	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatctgagctggtggaaaaAggacttggagacagcgattt	13	6	1	2	rs3027		TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr16:69366649A>G	ENST00000306875.4	-	4	1664	c.1550T>C	c.(1549-1551)cTt>cCt	p.L517P	RP11-343C2.12_ENST00000562949.1_Intron|COG8_ENST00000562081.1_Missense_Mutation_p.L517P|PDF_ENST00000288022.1_5'Flank	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	517			L -> R (in dbSNP:rs3027).		protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						TGGTGGAAAAAGGACTTGGAG	0.433																																						ENST00000306875.4																			0				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						c.(1549-1551)cTt>cCt		component of oligomeric golgi complex 8							118	117	117					16																	69366649		2198	4300	6498	SO:0001583	missense	84342				protein transport	Golgi membrane|Golgi transport complex		g.chr16:69366649A>G	AK025968	CCDS10876.1	16q22.1	2011-05-31			ENSG00000213380	ENSG00000213380		"Components of oligomeric golgi complex"	18623	protein-coding gene	gene with protein product		606979				11980916	Standard	NM_032382		Approved	FLJ22315, DOR1	uc002ewy.2	Q96MW5	OTTHUMG00000154277	ENST00000306875.4:c.1550T>C	16.37:g.69366649A>G	ENSP00000305459:p.Leu517Pro					COG8_ENST00000562081.1_Missense_Mutation_p.L517P	p.L517P	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN			4	1664	-			517		L -> R (in dbSNP:rs3027).			Q0VAK2|Q8WVV6|Q9H6F8	Missense_Mutation	SNP	ENST00000306875.4	37	c.1550T>C	CCDS10876.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.659522	0.88154	.	.	ENSG00000213380	ENST00000306875	T	0.54479	0.57	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.74329	0.3702	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	T	0.78170	-0.2308	10	0.87932	D	0	-12.6184	16.0067	0.80367	1.0:0.0:0.0:0.0	.	544;517	B4DYU2;Q96MW5	.;COG8_HUMAN	P	517	ENSP00000305459:L517P	ENSP00000305459:L517P	L	-	2	0	COG8	67924150	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.907000	0.92634	2.261000	0.74972	0.533000	0.62120	CTT		0.433	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268948.2	NM_032382		3	155	0	0	0	1	0	3	155					G	69366649	A	G	69366649	3	3	193	1	0	0	0	0	1	0	0	0	3664	72	3	3	296	3	COG8	16	69366649	Missense_Mutation	SNP	A	TCGA-EL-A3CN-01A-12D-A20C-08		69366649	20988104	26	4025											
CACNA1G	8913	broad.mit.edu	37	chr17	48678432	48678432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttccgcctcctgtgtcaccGgatcatcacccacaagatgt	8	15	3	1			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr17:48678432G>A	ENST00000359106.5	+	19	3812	c.3812G>A	c.(3811-3813)cGg>cAg	p.R1271Q	CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1248Q|CACNA1G_ENST00000416767.4_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1248Q|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1248Q|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1248Q|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1248Q|CACNA1G_ENST00000352832.5_Missense_Mutation_p.R1248Q|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1248Q|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1248Q	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1271					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CTGTGTCACCGGATCATCACC	0.627																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(3742-3744)cGg>cAg		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						123	124	123					17																	48678432		2143	4230	6373	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48678432G>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.3812G>A	17.37:g.48678432G>A	ENSP00000352011:p.Arg1271Gln					CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1248Q|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1248Q|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1248Q|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1248Q|CACNA1G_ENST00000359106.5_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1248Q|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1248Q|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000416767.4_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1248Q|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1271Q	p.R1248Q	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		18	4115	+	Breast(11;6.7e-17)		1271					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.3743G>A	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	14.44	2.535994	0.45176	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896;ENST00000506520	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97553	-4.04;-4.03;-4.21;-3.98;-4.04;-4.05;-4.06;-4.16;-4.1;-4.13;-4.13;-4.02;-4.0;-4.09;-4.03;-3.98;-4.07;-4.03;-4.01;-4.08;-4.04;-4.02;-4.06;-4.01;-4.08;-4.06;-4.43	4.85	3.86	0.44501	.	0.243896	0.38897	N	0.001525	D	0.96470	0.8848	L	0.39326	1.205	0.30590	N	0.761608	P;B;B;D;B;P;D;B;P;B;B;B;B;B;P;B;D;B;B;B;P;B;B;B;D;D	0.76494	0.701;0.023;0.396;0.999;0.135;0.943;0.998;0.226;0.9;0.122;0.226;0.08;0.143;0.135;0.8;0.2;0.977;0.411;0.081;0.239;0.943;0.083;0.226;0.133;0.986;0.986	B;B;B;D;B;B;D;B;B;B;B;B;B;B;B;B;P;B;B;B;B;B;B;B;P;P	0.73380	0.069;0.017;0.025;0.98;0.017;0.173;0.973;0.025;0.217;0.025;0.025;0.027;0.011;0.017;0.217;0.014;0.615;0.194;0.017;0.025;0.242;0.012;0.025;0.007;0.78;0.786	D	0.92842	0.6289	10	0.59425	D	0.04	.	6.14	0.20255	0.2866:0.0:0.7134:0.0	.	1248;1271;1271;1271;1271;1271;1271;1271;1271;1271;1271;1248;1271;1271;1271;1271;1271;1248;1271;1248;1248;1248;1248;1271;1248;1271	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	Q	1248;1248;1271;1248;1248;1248;1271;1271;1248;1271;1271;1271;1271;1271;1271;1248;1271;1271;1271;1271;1248;1271;1271;1271;1271;1271;86	ENSP00000353990:R1248Q;ENSP00000339302:R1248Q;ENSP00000392390:R1271Q;ENSP00000347078:R1248Q;ENSP00000409759:R1248Q;ENSP00000425522:R1248Q;ENSP00000426261:R1271Q;ENSP00000425451:R1271Q;ENSP00000422407:R1248Q;ENSP00000426814:R1271Q;ENSP00000427238:R1271Q;ENSP00000423112:R1271Q;ENSP00000420918:R1271Q;ENSP00000426172:R1271Q;ENSP00000423045:R1271Q;ENSP00000427173:R1248Q;ENSP00000426098:R1271Q;ENSP00000425698:R1271Q;ENSP00000426232:R1271Q;ENSP00000423317:R1271Q;ENSP00000350979:R1248Q;ENSP00000352011:R1271Q;ENSP00000414388:R1271Q;ENSP00000423155:R1271Q;ENSP00000422268:R1271Q;ENSP00000421518:R1271Q;ENSP00000427697:R86Q	ENSP00000339302:R1248Q	R	+	2	0	CACNA1G	46033431	0.955000	0.32602	1.000000	0.80357	0.997000	0.91878	2.040000	0.41203	2.409000	0.81822	0.655000	0.94253	CGG		0.627	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		80	178	0	0	0	1	0	80	178					A	48678432	G	A	48678432	3	1	193	1	0	0	0	0	1	0	0	0	2544	1116	39	1	3886	1	CACNA1G	17	48678432	Missense_Mutation	SNP	G	TCGA-EL-A3CN-01A-12D-A20C-08		48678432	32516778	27	4026											
ALPK2	115701	broad.mit.edu	37	chr18	56247518	56247518	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggttggatttggagggggAggagtcagctgacctgggag	20	4	1	1			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr18:56247518A>G	ENST00000361673.3	-	4	703	c.490T>C	c.(490-492)Tcc>Ccc	p.S164P	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	164						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTGGAGGGGGAGGAGTCAGCT	0.468																																						ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(490-492)Tcc>Ccc		alpha-kinase 2							208	214	212					18																	56247518		2151	4264	6415	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56247518A>G	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.490T>C	18.37:g.56247518A>G	ENSP00000354991:p.Ser164Pro						p.S164P	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			4	703	-			164					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.490T>C	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	A	8.698	0.909162	0.17833	.	.	ENSG00000198796	ENST00000361673	T	0.49139	0.79	5.8	-2.63	0.06133	.	.	.	.	.	T	0.14356	0.0347	N	0.03115	-0.41	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.23084	-1.0198	9	0.02654	T	1	-0.0216	0.9525	0.01379	0.3065:0.3246:0.1563:0.2126	.	164	Q86TB3	ALPK2_HUMAN	P	164	ENSP00000354991:S164P	ENSP00000354991:S164P	S	-	1	0	ALPK2	54398498	0.000000	0.05858	0.000000	0.03702	0.120000	0.20174	-0.120000	0.10660	-0.673000	0.05259	0.450000	0.29827	TCC		0.468	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		4	355	0	0	0	1	0	4	355					G	56247518	A	G	56247518	3	3	193	1	0	0	0	0	1	0	0	0	545	304	11	3	6062	3	ALPK2	18	56247518	Missense_Mutation	SNP	A	TCGA-EL-A3CN-01A-12D-A20C-08		56247518	21829730	28	4027											
C3	718	broad.mit.edu	37	chr19	6702224	6702224	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcatgagcttcgtagagattCtggatggagaagaggttggg	16	4	2	4			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr19:6702224C>A	ENST00000245907.6	-	19	2447		c.e19-1			NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3						complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CGTAGAGATTCTGGATGGAGA	0.507																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.e19-1		complement component 3							46	44	45					19																	6702224		2203	4300	6503	SO:0001630	splice_region_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6702224C>A	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2355-1G>T	19.37:g.6702224C>A								NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	19	2447	-								A7E236	Splice_Site	SNP	ENST00000245907.6	37		CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.332051	0.41297	.	.	ENSG00000125730	ENST00000245907	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8064	0.92038	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C3	6653224	1.000000	0.71417	1.000000	0.80357	0.283000	0.27025	6.126000	0.71635	2.735000	0.93741	0.591000	0.81541	.		0.507	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064	Intron	28	44	1	0	9.65021e-13	1	1.11942e-12	28	44					A	6702224	C	A	6702224	5	1	193	1	0	0	0	0	0	0	1	0	2204	927	32	4	2729	4	C3	19	6702224	Splice_Site	SNP	C	TCGA-EL-A3CN-01A-12D-A20C-08		6702224	52426759	29	4028											
ZNF681	148213	broad.mit.edu	37	chr19	23927372	23927372	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cagtatgaattatcttatgtCtggtaaggtgtgaggactgg	13	4	2	2			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr19:23927372C>G	ENST00000402377.3	-	4	1121	c.980G>C	c.(979-981)aGa>aCa	p.R327T	ZNF681_ENST00000395385.3_Missense_Mutation_p.R258T	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	327					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TATCTTATGTCTGGTAAGGTG	0.378																																						ENST00000402377.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21						c.(979-981)aGa>aCa		zinc finger protein 681							95	96	96					19																	23927372		2203	4300	6503	SO:0001583	missense	148213				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:23927372C>G	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"Zinc fingers, C2H2-type", "-"	26457	protein-coding gene	gene with protein product	"hypothetical protein FLJ31526"						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.980G>C	19.37:g.23927372C>G	ENSP00000384000:p.Arg327Thr					ZNF681_ENST00000395385.3_Missense_Mutation_p.R258T	p.R327T	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN			4	1121	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	327					B3KVF7	Missense_Mutation	SNP	ENST00000402377.3	37	c.980G>C	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	0.012	-1.691297	0.00731	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.26223	1.75;1.75	0.946	-1.89	0.07689	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12092	0.0294	N	0.21142	0.635	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.35992	-0.9766	9	0.13108	T	0.6	.	3.7092	0.08413	0.0:0.2062:0.4249:0.3688	.	327	Q96N22	ZN681_HUMAN	T	327;258	ENSP00000384000:R327T;ENSP00000378783:R258T	ENSP00000378783:R258T	R	-	2	0	ZNF681	23719212	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-8.150000	0.00024	-1.615000	0.01573	-0.676000	0.03789	AGA		0.378	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286		3	139	0	0	0	1	0	3	139					G	23927372	C	G	23927372	3	3	193	1	0	0	0	0	1	0	0	0	18085	913	32	4	961	4	ZNF681	19	23927372	Missense_Mutation	SNP	C	TCGA-EL-A3CN-01A-12D-A20C-08	17225148	23927372	35201611	30	4029											
RYR1	6261	broad.mit.edu	37	chr19	38959719	38959719	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attatcttcaccctcaatggCgaggtcctcatgtctgactc	7	13	5	1			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr19:38959719C>T	ENST00000359596.3	+	26	3495	c.3495C>T	c.(3493-3495)ggC>ggT	p.G1165G	RYR1_ENST00000355481.4_Silent_p.G1165G|RYR1_ENST00000360985.3_Silent_p.G1165G			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1165	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CCCTCAATGGCGAGGTCCTCA	0.557																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(3493-3495)ggC>ggT		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						119	102	108					19																	38959719		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38959719C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3495C>T	19.37:g.38959719C>T						RYR1_ENST00000359596.3_Silent_p.G1165G|RYR1_ENST00000360985.3_Silent_p.G1165G	p.G1165G	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		26	3626	+	all_cancers(60;7.91e-06)		1165			6 X approximate repeats.|B30.2/SPRY 2.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.3495C>T	CCDS33011.1																																																																																				0.557	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			12	119	0	0	0	1	0	12	119					T	38959719	C	T	38959719	2	4	193	1	0	0	0	0	0	0	0	1	13768	755	27	1		1	RYR1	19	38959719	Silent	SNP	C	TCGA-EL-A3CN-01A-12D-A20C-08	15032347	38959719	20169264	31	4030											
NF2	4771	broad.mit.edu	37	chr22	30038263	30038263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcctggcttcttacgccGtccaggccaaggtaggctca	11	14	2	0			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr22:30038263G>A	ENST00000338641.4	+	4	877	c.436G>A	c.(436-438)Gtc>Atc	p.V146I	NF2_ENST00000413209.2_Missense_Mutation_p.V146I|NF2_ENST00000403999.3_Missense_Mutation_p.V146I|NF2_ENST00000334961.7_Missense_Mutation_p.V63I|NF2_ENST00000397789.3_Missense_Mutation_p.V146I|NF2_ENST00000361452.4_Missense_Mutation_p.V105I|NF2_ENST00000347330.5_Missense_Mutation_p.V63I|NF2_ENST00000361166.4_Missense_Mutation_p.V146I|NF2_ENST00000403435.1_Missense_Mutation_p.V146I|NF2_ENST00000353887.4_Missense_Mutation_p.V63I|NF2_ENST00000361676.4_Missense_Mutation_p.V104I	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	146	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.V122_K149del(5)|p.?(2)|p.Y144fs*5(1)|p.V146I(1)|p.K123fs*2(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						TTCTTACGCCGTCCAGGCCAA	0.448			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2																													ENST00000338641.4			yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	"D, Mis, N, F, S, O"	neurofibromatosis type 2 gene			O		"meningioma, acoustic neuroma"	"meningioma, acoustic neuroma, renal "		10	Deletion - In frame(5)|Unknown(2)|Deletion - Frameshift(2)|Substitution - Missense(1)	p.V122_K149del(5)|p.?(2)|p.Y144fs*5(1)|p.V146I(1)|p.K123fs*2(1)	soft_tissue(7)|meninges(1)|large_intestine(1)|stomach(1)	NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						c.(436-438)Gtc>Atc		neurofibromin 2 (merlin)							72	70	71					22																	30038263		2203	4300	6503	SO:0001583	missense	4771	Neurofibromatosis, type 2	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	g.chr22:30038263G>A	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"A-kinase anchor proteins"	7773	protein-coding gene	gene with protein product	"moesin-ezrin-radixin like", "schwannomin"	607379	"neurofibromin 2 (bilateral acoustic neuroma)"			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.436G>A	22.37:g.30038263G>A	ENSP00000344666:p.Val146Ile					NF2_ENST00000413209.2_Missense_Mutation_p.V146I|NF2_ENST00000361676.4_Missense_Mutation_p.V104I|NF2_ENST00000347330.5_Missense_Mutation_p.V63I|NF2_ENST00000397789.3_Missense_Mutation_p.V146I|NF2_ENST00000361452.4_Missense_Mutation_p.V105I|NF2_ENST00000361166.4_Missense_Mutation_p.V146I|NF2_ENST00000353887.4_Missense_Mutation_p.V63I|NF2_ENST00000403999.3_Missense_Mutation_p.V146I|NF2_ENST00000334961.7_Missense_Mutation_p.V63I|NF2_ENST00000403435.1_Missense_Mutation_p.V146I	p.V146I	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN			4	877	+			146			FERM.		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Missense_Mutation	SNP	ENST00000338641.4	37	c.436G>A	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.634247	0.67130	.	.	ENSG00000186575	ENST00000413209;ENST00000347330;ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	T;D;T;T;T;T;T;T;T;T;T	0.94417	-1.11;-3.42;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	5.24	4.22	0.49857	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.96620	0.8897	M	0.77486	2.375	0.32088	N	0.59225	D;D;D;D;D;D;D	0.76494	0.979;0.999;0.996;0.989;0.989;0.989;0.98	P;D;D;D;P;P;P	0.67548	0.87;0.948;0.952;0.926;0.861;0.891;0.861	D	0.96953	0.9696	9	.	.	.	.	13.9963	0.64405	0.0735:0.0:0.9265:0.0	.	146;105;146;146;104;63;146	P35240-9;P35240-5;P35240;P35240-2;P35240-6;P35240-4;P35240-3	.;.;MERL_HUMAN;.;.;.;.	I	146;63;146;146;105;146;146;63;63;146;104;146	ENSP00000409921:V146I;ENSP00000335160:V63I;ENSP00000344666:V146I;ENSP00000384029:V146I;ENSP00000354897:V105I;ENSP00000384797:V146I;ENSP00000335652:V63I;ENSP00000340626:V63I;ENSP00000380891:V146I;ENSP00000355183:V104I;ENSP00000354529:V146I	.	V	+	1	0	NF2	28368263	1.000000	0.71417	0.984000	0.44739	0.960000	0.62799	9.777000	0.99008	1.213000	0.43380	0.655000	0.94253	GTC		0.448	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268		3	59	0	0	0	1	0	3	59					A	30038263	G	A	30038263	3	1	193	1	0	0	0	0	1	0	0	0	10357	1145	40	1	450	1	NF2	22	30038263	Missense_Mutation	SNP	G	TCGA-EL-A3CN-01A-12D-A20C-08		30038263	21266303	32	4031											
ALG12	79087	broad.mit.edu	37	chr22	50302984	50302984	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaaaaataagagtccacagCaaccgtcagtcctgacaaaa	6	12	1	2			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr22:50302984C>A	ENST00000330817.6	-	6	949	c.676G>T	c.(676-678)Gct>Tct	p.A226S		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	226					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		GAGTCCACAGCAACCGTCAGT	0.478																																						ENST00000330817.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12						c.(676-678)Gct>Tct		ALG12, alpha-1,6-mannosyltransferase							78	73	75					22																	50302984		2203	4300	6503	SO:0001583	missense	79087				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane		g.chr22:50302984C>A	AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	19358	protein-coding gene	gene with protein product	"dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase", "dol-P-Man dependent alpha-1,6-mannosyltransferase"	607144	"asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)", "asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.676G>T	22.37:g.50302984C>A	ENSP00000333813:p.Ala226Ser						p.A226S	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)	6	949	-		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	226					A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Missense_Mutation	SNP	ENST00000330817.6	37	c.676G>T	CCDS14081.1	.	.	.	.	.	.	.	.	.	.	C	8.712	0.912346	0.17907	.	.	ENSG00000182858	ENST00000330817	T	0.64085	-0.08	5.07	4.05	0.47172	.	0.424795	0.27258	N	0.020188	T	0.59542	0.2201	L	0.53780	1.695	0.25901	N	0.983359	B	0.29212	0.237	B	0.33196	0.159	T	0.57382	-0.7821	10	0.51188	T	0.08	-9.1028	13.8172	0.63299	0.0:0.9256:0.0:0.0744	.	226	Q9BV10	ALG12_HUMAN	S	226	ENSP00000333813:A226S	ENSP00000333813:A226S	A	-	1	0	ALG12	48688988	0.811000	0.29063	0.041000	0.18516	0.051000	0.14879	2.863000	0.48396	1.297000	0.44761	0.650000	0.86243	GCT		0.478	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317405.2	NM_024105		3	74	1	0	0.004672	1	0.00511275	3	74					A	50302984	C	A	50302984	3	1	193	1	0	0	0	0	1	0	0	0	514	710	25	4	810	4	ALG12	22	50302984	Missense_Mutation	SNP	C	TCGA-EL-A3CN-01A-12D-A20C-08	20264721	50302984	1001582	33	4032											
TIMM17B	10245	broad.mit.edu	37	chrX	48751202	48751202	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatttcggaactgctgggcTgtgtagcgagtgaggaggat	16	7	0	1			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chrX:48751202T>C	ENST00000376582.3	-	6	559	c.411A>G	c.(409-411)acA>acG	p.T137T	TIMM17B_ENST00000465150.2_Silent_p.T187T|TIMM17B_ENST00000472645.1_5'UTR|TIMM17B_ENST00000495490.2_Silent_p.T157T|TIMM17B_ENST00000396779.3_Silent_p.T187T	NM_005834.3	NP_005825.1	O60830	TI17B_HUMAN	translocase of inner mitochondrial membrane 17 homolog B (yeast)	137					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane presequence translocase complex (GO:0005744)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6						ACTGCTGGGCTGTGTAGCGAG	0.597																																						ENST00000396779.3																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6						c.(559-561)acA>acG		translocase of inner mitochondrial membrane 17 homolog B (yeast)							52	42	45					X																	48751202		2203	4299	6502	SO:0001819	synonymous_variant	10245				protein targeting to mitochondrion	integral to membrane|microtubule cytoskeleton|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chrX:48751202T>C	AF034790	CCDS14308.1, CCDS55411.1	Xp11.23	2008-02-05			ENSG00000126768	ENSG00000126768			17310	protein-coding gene	gene with protein product		300249				10339406	Standard	NM_001167947		Approved	DXS9822, JM3	uc004dla.2	O60830	OTTHUMG00000034498	ENST00000376582.3:c.411A>G	X.37:g.48751202T>C						TIMM17B_ENST00000466995.1_5'UTR|TIMM17B_ENST00000376582.3_Silent_p.T137T	p.T187T	NM_001167947.1	NP_001161419.1	O60830	TI17B_HUMAN			7	709	-			137					A8K2E2|J3KPV3|Q9UJV0	Silent	SNP	ENST00000376582.3	37	c.561A>G	CCDS14308.1																																																																																				0.597	TIMM17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083411.2	NM_005834		3	50	0	0	0	1	0	3	50					C	48751202	T	C	48751202	2	2	193	1	0	0	0	0	0	0	0	1	15906	1567	55	3		3	TIMM17B	23	48751202	Silent	SNP	T	TCGA-EL-A3CN-01A-12D-A20C-08		48751202	106519358	34	4033											
CENPI	2491	broad.mit.edu	37	chrX	100382562	100382562	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatgtggaaaaaaagagatgAgtctttctgattgtctgaat	10	3	3	4			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chrX:100382562A>T	ENST00000372927.1	+	10	1259	c.982A>T	c.(982-984)Agt>Tgt	p.S328C	CENPI_ENST00000423383.1_Missense_Mutation_p.S328C|CENPI_ENST00000372926.1_Missense_Mutation_p.S328C|CENPI_ENST00000218507.5_Missense_Mutation_p.S328C	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	328					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						AAAAGAGATGAGTCTTTCTGA	0.358																																						ENST00000372927.1																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						c.(982-984)Agt>Tgt		centromere protein I							100	93	96					X																	100382562		2203	4300	6503	SO:0001583	missense	2491				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	g.chrX:100382562A>T	X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"FSH primary response (LRPR1, rat) homolog 1", "FSH primary response (LRPR1 homolog, rat) 1"	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.982A>T	X.37:g.100382562A>T	ENSP00000362018:p.Ser328Cys					CENPI_ENST00000218507.5_Missense_Mutation_p.S328C|CENPI_ENST00000423383.1_Missense_Mutation_p.S328C|CENPI_ENST00000372926.1_Missense_Mutation_p.S328C	p.S328C	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN			10	1259	+			328					Q5JWZ9|Q96ED0	Missense_Mutation	SNP	ENST00000372927.1	37	c.982A>T	CCDS14479.1	.	.	.	.	.	.	.	.	.	.	a	13.30	2.196268	0.38806	.	.	ENSG00000102384	ENST00000423383;ENST00000218507;ENST00000372926;ENST00000372927	.	.	.	5.4	1.57	0.23409	.	1.002650	0.08030	N	0.993452	T	0.50069	0.1594	L	0.53249	1.67	0.09310	N	1	D;D	0.58620	0.983;0.971	P;P	0.56788	0.806;0.72	T	0.32455	-0.9906	9	0.56958	D	0.05	0.5801	5.4604	0.16614	0.6347:0.1379:0.2274:0.0	.	328;328	B4DZL4;Q92674	.;CENPI_HUMAN	C	328	.	ENSP00000218507:S328C	S	+	1	0	CENPI	100269218	0.000000	0.05858	0.003000	0.11579	0.375000	0.29983	1.051000	0.30417	0.268000	0.21939	0.481000	0.45027	AGT		0.358	CENPI-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057519.1	NM_006733		63	126	0	0	0	1	0	63	126					T	100382562	A	T	100382562	3	4	193	1	0	0	0	0	1	0	0	0	3233	304	11	5	1016	5	CENPI	23	100382562	Missense_Mutation	SNP	A	TCGA-EL-A3CN-01A-12D-A20C-08	51631360	100382562	54887998	35	4034											
F8	2157	broad.mit.edu	37	chrX	154157202	154157202	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatgattgctttcacaagcGttcagggacaaaatggtatc	10	8	2	1			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chrX:154157202G>A	ENST00000360256.4	-	14	5063	c.4863C>T	c.(4861-4863)aaC>aaT	p.N1621N		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1621	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTTCACAAGCGTTCAGGGACA	0.413																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(4861-4863)aaC>aaT		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						181	174	176					X																	154157202		2203	4300	6503	SO:0001819	synonymous_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154157202G>A	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4863C>T	X.37:g.154157202G>A							p.N1621N	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	5063	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1621			B.		Q14286|Q5HY69	Silent	SNP	ENST00000360256.4	37	c.4863C>T	CCDS35457.1																																																																																				0.413	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			5	286	0	0	0	1	0	5	286					A	154157202	G	A	154157202	2	1	193	1	0	0	0	0	0	0	0	1	5350	1136	40	1		1	F8	23	154157202	Silent	SNP	G	TCGA-EL-A3CN-01A-12D-A20C-08	53774640	154157202	1113358	36	4035											
WFS1	7466	broad.mit.edu	37	chr4	6302918	6302918	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggccaccgaggtcaccgccGgcctgctatcgctgctgccc	12	18	1	0			TCGA-EL-A3CO-01A-11D-A19J-08	TCGA-EL-A3CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba1f48c1-8d38-4a91-ba08-a8ecb63cac88	bc492b5b-036e-4452-ac96-4fa312ce29ef	g.chr4:6302918G>C	ENST00000226760.1	+	8	1566	c.1396G>C	c.(1396-1398)Ggc>Cgc	p.G466R	WFS1_ENST00000503569.1_Missense_Mutation_p.G466R	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	466					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GGTCACCGCCGGCCTGCTATC	0.642																																						ENST00000226760.1																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(1396-1398)Ggc>Cgc		Wolfram syndrome 1 (wolframin)							90	73	79					4																	6302918		2203	4300	6503	SO:0001583	missense	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6302918G>C	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.1396G>C	4.37:g.6302918G>C	ENSP00000226760:p.Gly466Arg					WFS1_ENST00000503569.1_Missense_Mutation_p.G466R	p.G466R	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	8	1566	+			466					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	37	c.1396G>C	CCDS3386.1	.	.	.	.	.	.	.	.	.	.	g	11.77	1.737584	0.30774	.	.	ENSG00000109501	ENST00000503569;ENST00000226760	D;D	0.91180	-2.8;-2.8	4.77	4.77	0.60923	.	0.179901	0.47852	D	0.000204	D	0.94470	0.8220	M	0.73962	2.25	0.48762	D	0.999701	D	0.71674	0.998	D	0.64237	0.923	D	0.95007	0.8148	10	0.62326	D	0.03	-54.7841	16.785	0.85572	0.0:0.0:1.0:0.0	.	466	O76024	WFS1_HUMAN	R	466	ENSP00000423337:G466R;ENSP00000226760:G466R	ENSP00000226760:G466R	G	+	1	0	WFS1	6353819	0.987000	0.35691	0.980000	0.43619	0.041000	0.13682	3.712000	0.54875	2.195000	0.70347	0.457000	0.33378	GGC		0.642	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			6	75	0	0	0	0.217242	0	6	75					C	6302918	G	C	6302918	3	2	194	1	0	0	0	0	1	0	0	0	17357	1116	39	4	1422	4	WFS1	4	6302918	Missense_Mutation	SNP	G	TCGA-EL-A3CO-01A-11D-A19J-08		6302918	184851358	1	4036											
AFM	173	broad.mit.edu	37	chr4	74357625	74357625	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atatttgttcaaaacaagatTctatctccagcaaaatcaaa	3	8	4	1			TCGA-EL-A3CO-01A-11D-A19J-08	TCGA-EL-A3CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba1f48c1-8d38-4a91-ba08-a8ecb63cac88	bc492b5b-036e-4452-ac96-4fa312ce29ef	g.chr4:74357625T>G	ENST00000226355.3	+	8	973	c.880T>G	c.(880-882)Tct>Gct	p.S294A		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	294	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAAACAAGATTCTATCTCCAG	0.358																																						ENST00000226355.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(880-882)Tct>Gct		afamin							78	85	83					4																	74357625		2203	4300	6503	SO:0001583	missense	173				vitamin transport		vitamin E binding	g.chr4:74357625T>G	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.880T>G	4.37:g.74357625T>G	ENSP00000226355:p.Ser294Ala						p.S294A	NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		8	973	+	Breast(15;0.00102)		294			Albumin 2.		A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	ENST00000226355.3	37	c.880T>G	CCDS3557.1	.	.	.	.	.	.	.	.	.	.	T	0.906	-0.720690	0.03182	.	.	ENSG00000079557	ENST00000226355	T	0.72051	-0.62	5.06	-0.851	0.10716	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.412269	0.22881	N	0.054519	T	0.47728	0.1461	L	0.37850	1.14	0.20703	N	0.999867	B	0.12630	0.006	B	0.16289	0.015	T	0.14364	-1.0475	10	0.11485	T	0.65	.	2.0179	0.03502	0.1539:0.0887:0.3186:0.4388	.	294	P43652	AFAM_HUMAN	A	294	ENSP00000226355:S294A	ENSP00000226355:S294A	S	+	1	0	AFM	74576489	0.000000	0.05858	0.956000	0.39512	0.123000	0.20343	-1.437000	0.02419	-0.030000	0.13804	-0.718000	0.03613	TCT		0.358	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2			5	104	0	0	0	0.217242	0	5	104					G	74357625	T	G	74357625	3	3	194	1	0	0	0	0	1	0	0	0	361	1783	62	5	910	5	AFM	4	74357625	Missense_Mutation	SNP	T	TCGA-EL-A3CO-01A-11D-A19J-08	68054707	74357625	116796651	2	4037											
FLOT1	8870	broad.mit.edu	37	chr6	30707994	30707994	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgacctcgatgtcataggCggccttcttcagttcgtaat	10	10	3	1			TCGA-EL-A3CO-01A-11D-A19J-08	TCGA-EL-A3CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba1f48c1-8d38-4a91-ba08-a8ecb63cac88	bc492b5b-036e-4452-ac96-4fa312ce29ef	g.chr6:30707994C>T	ENST00000259874.5	-	0	1244				FLOT1_ENST00000376389.3_Missense_Mutation_p.A222T|FLOT1_ENST00000470643.1_5'UTR|XXbac-BPG252P9.10_ENST00000607333.1_RNA|FLOT1_ENST00000456573.2_Missense_Mutation_p.A174T	NM_003897.3	NP_003888.2	P46695	IEX1_HUMAN	immediate early response 3						anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glycolytic process (GO:0045820)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|negative regulation of systemic arterial blood pressure (GO:0003085)|positive regulation of protein catabolic process (GO:0045732)|regulation of DNA repair (GO:0006282)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of response to DNA damage stimulus (GO:2001020)|response to protozoan (GO:0001562)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)	1						ATGTCATAGGCGGCCTTCTTC	0.562																																						ENST00000376389.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						c.(664-666)Gcc>Acc		flotillin 1							128	98	109					6																	30707994		1511	2709	4220	SO:0001628	intergenic_variant	10211					centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction		g.chr6:30707994C>T	AF083421	CCDS4689.1	6p21.3	2010-02-17			ENSG00000137331	ENSG00000137331			5392	protein-coding gene	gene with protein product		602996				8603392, 9703517	Standard	NM_003897		Approved	IEX-1, DIF-2, PRG1, IEX-1L	uc003nrn.3	P46695	OTTHUMG00000031265		6.37:g.30707994C>T						FLOT1_ENST00000470643.1_5'UTR|FLOT1_ENST00000456573.2_Missense_Mutation_p.A174T	p.A222T	NM_005803.2	NP_005794.1	O75955	FLOT1_HUMAN			8	884	-			222					Q5SU30|Q92691|Q93044	Missense_Mutation	SNP	ENST00000259874.5	37	c.664G>A	CCDS4689.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.964862	0.34659	.	.	ENSG00000137312	ENST00000376389;ENST00000456573;ENST00000413165;ENST00000438162;ENST00000418160;ENST00000445853	T;T;T;D	0.96073	1.22;1.24;1.22;-3.9	4.74	1.9	0.25705	.	0.393156	0.24922	N	0.034529	D	0.85093	0.5618	L	0.49455	1.56	0.19575	N	0.999966	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.001	T	0.75659	-0.3241	10	0.22706	T	0.39	-16.361	8.0021	0.30304	0.0:0.7125:0.0:0.2875	.	174;222	B4DVY7;O75955	.;FLOT1_HUMAN	T	222;174;159;222;127;222	ENSP00000365569:A222T;ENSP00000394375:A174T;ENSP00000400615:A222T;ENSP00000398834:A222T	ENSP00000365569:A222T	A	-	1	0	FLOT1	30815973	0.057000	0.20700	0.146000	0.22360	0.992000	0.81027	0.570000	0.23653	0.586000	0.29626	0.609000	0.83330	GCC		0.562	IER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076578.2			4	51	0	0	0	0.150653	0	4	51					T	30707994	C	T	30707994	1	4	194	0	1	0	0	0	0	0	0	0	5936	768	27	1		1	FLOT1	6	30707994	IGR	SNP	C	TCGA-EL-A3CO-01A-11D-A19J-08		30707994	140407073	3	4038											
KCNMA1	3778	broad.mit.edu	37	chr10	79011015	79011015	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcaaagactaagacaacCtgtaaaagaagaggagaatg	11	5	0	6			TCGA-EL-A3CO-01A-11D-A19J-08	TCGA-EL-A3CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba1f48c1-8d38-4a91-ba08-a8ecb63cac88	bc492b5b-036e-4452-ac96-4fa312ce29ef	g.chr10:79011015C>T	ENST00000286628.8	-	3	540		c.e3-1		KCNMA1_ENST00000406533.3_Splice_Site|KCNMA1_ENST00000354353.5_Splice_Site|KCNMA1_ENST00000404857.1_Splice_Site|KCNMA1_ENST00000404771.3_Splice_Site|KCNMA1_ENST00000372440.1_Splice_Site|KCNMA1_ENST00000286627.5_Splice_Site|KCNMA1_ENST00000372443.1_Splice_Site	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1						blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.?(2)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	CTAAGACAACCTGTAAAAGAA	0.398											OREG0020289	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000286627.5																			2	Unknown(2)	p.?(2)	lung(2)	breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68						c.e3-1		potassium large conductance calcium-activated channel, subfamily M, alpha member 1	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						116	119	118					10																	79011015		2203	4300	6503	SO:0001630	splice_region_variant	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:79011015C>T	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6284	protein-coding gene	gene with protein product	"BK channel alpha subunit"	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.541-1G>A	10.37:g.79011015C>T			OREG0020289	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1187	KCNMA1_ENST00000372443.1_Splice_Site|KCNMA1_ENST00000404857.1_Splice_Site|KCNMA1_ENST00000354353.5_Splice_Site|KCNMA1_ENST00000406533.3_Splice_Site|KCNMA1_ENST00000372440.1_Splice_Site|KCNMA1_ENST00000404771.3_Splice_Site|KCNMA1_ENST00000286628.8_Splice_Site		NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		3	1493	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)							F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Splice_Site	SNP	ENST00000286628.8	37			.	.	.	.	.	.	.	.	.	.	C	24.0	4.481216	0.84747	.	.	ENSG00000156113	ENST00000372421;ENST00000372440;ENST00000372403;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5571	0.87894	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KCNMA1	78681021	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.314000	0.72848	2.660000	0.90430	0.650000	0.86243	.		0.398	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247	Intron	3	35	0	0	0	0.150653	0	3	35					T	79011015	C	T	79011015	5	4	194	1	0	0	0	0	0	0	1	0	8073	695	24	2	3446	2	KCNMA1	10	79011015	Splice_Site	SNP	C	TCGA-EL-A3CO-01A-11D-A19J-08		79011015	56523732	4	4039											
C12orf71	728858	broad.mit.edu	37	chr12	27234923	27234923	+	Frame_Shift_Del	DEL	C	C	-													gaaccatttccggaggggagCcgctggatagctggaaatct							TCGA-EL-A3CO-01A-11D-A19J-08	TCGA-EL-A3CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba1f48c1-8d38-4a91-ba08-a8ecb63cac88	bc492b5b-036e-4452-ac96-4fa312ce29ef	g.chr12:27234923delC	ENST00000429849.2	-	1	524	c.494delG	c.(493-495)ggcfs	p.G165fs		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	165										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						CGGAGGGGAGCCGCTGGATAG	0.423																																						ENST00000429849.2																			0				endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						c.(493-495)gcfs		chromosome 12 open reading frame 71							34	32	32					12																	27234923		1859	4118	5977	SO:0001589	frameshift_variant	728858							g.chr12:27234923delC		CCDS44851.1	12p11.23	2008-07-25			ENSG00000214700	ENSG00000214700			34452	protein-coding gene	gene with protein product							Standard	NM_001080406		Approved	LOC728858	uc001rhq.3	A8MTZ7	OTTHUMG00000169274	ENST00000429849.2:c.494delG	12.37:g.27234923delC	ENSP00000413728:p.Gly165fs						p.G165fs	NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN			1	524	-			165						Frame_Shift_Del	DEL	ENST00000429849.2	37	c.494delG	CCDS44851.1																																																																																				0.423	C12orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403258.1	NM_001080406		2	4						2	4	---	---	---	---	-	27234923	C	-	27234923	7	5	194	1	0	1	0	1	0	0	0	0	1712	739	26	0	323	0	C12orf71	12	27234923	Frame_Shift_Del	DEL	C	TCGA-EL-A3CO-01A-11D-A19J-08		27234923	106616972	5	4040											
SYNE2	23224	broad.mit.edu	37	chr14	64680925	64680925	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtttagggcttggaagatgAaaaggaggcctctgagaatg	16	4	1	3			TCGA-EL-A3CO-01A-11D-A19J-08	TCGA-EL-A3CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba1f48c1-8d38-4a91-ba08-a8ecb63cac88	bc492b5b-036e-4452-ac96-4fa312ce29ef	g.chr14:64680925A>G	ENST00000344113.4	+	106	19282	c.19070A>G	c.(19069-19071)gAa>gGa	p.E6357G	SYNE2_ENST00000554584.1_Missense_Mutation_p.E6299G|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Missense_Mutation_p.E2742G|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6357G|SYNE2_ENST00000555002.1_Missense_Mutation_p.E2991G|SYNE2_ENST00000394768.2_Missense_Mutation_p.E2742G|SYNE2_ENST00000555022.1_Missense_Mutation_p.E235G|SYNE2_ENST00000441438.2_5'Flank|SYNE2_ENST00000458046.2_5'UTR|SYNE2_ENST00000554805.1_Missense_Mutation_p.E140G	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6357					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTGGAAGATGAAAAGGAGGCC	0.458																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(8224-8226)gAa>gGa		spectrin repeat containing, nuclear envelope 2							84	88	87					14																	64680925		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64680925A>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.19070A>G	14.37:g.64680925A>G	ENSP00000341781:p.Glu6357Gly					SYNE2_ENST00000555002.1_Missense_Mutation_p.E2991G|SYNE2_ENST00000555022.1_Missense_Mutation_p.E235G|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000458046.2_5'UTR|SYNE2_ENST00000554805.1_Missense_Mutation_p.E140G|SYNE2_ENST00000554584.1_Missense_Mutation_p.E6299G|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6357G|SYNE2_ENST00000344113.4_Missense_Mutation_p.E6357G|SYNE2_ENST00000394768.2_Missense_Mutation_p.E2742G	p.E2742G			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	107	19369	+			6357					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.8225A>G	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	14.90	2.672456	0.47781	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805	T;T;T;T;T;T;T;T	0.60040	0.31;3.71;0.35;0.22;3.75;3.71;3.43;2.86	5.12	5.12	0.69794	.	0.128180	0.34156	N	0.004218	T	0.74007	0.3660	M	0.68593	2.085	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.994;0.971;0.964;0.993;0.999	T	0.77138	-0.2698	10	0.72032	D	0.01	.	15.0874	0.72165	1.0:0.0:0.0:0.0	.	2742;745;6299;6357;6357	Q8WXH0-7;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	G	6357;2742;6357;6299;6305;2991;2742;235;140	ENSP00000350719:E6357G;ENSP00000349969:E2742G;ENSP00000341781:E6357G;ENSP00000452570:E6299G;ENSP00000450831:E2991G;ENSP00000378249:E2742G;ENSP00000451009:E235G;ENSP00000450605:E140G	ENSP00000261678:E6305G	E	+	2	0	SYNE2	63750678	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.130000	0.71663	2.152000	0.67230	0.533000	0.62120	GAA		0.458	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		7	103	0	0	0	0.248553	0	7	103					G	64680925	A	G	64680925	3	3	194	1	0	0	0	0	1	0	0	0	15443	246	9	3	19488	3	SYNE2	14	64680925	Missense_Mutation	SNP	A	TCGA-EL-A3CO-01A-11D-A19J-08		64680925	42668615	6	4041											
CDH8	1006	broad.mit.edu	37	chr16	61687935	61687935	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaatgatgttttctcgaacGtcttcatcatctttgataat	6	8	5	2			TCGA-EL-A3CO-01A-11D-A19J-08	TCGA-EL-A3CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba1f48c1-8d38-4a91-ba08-a8ecb63cac88	bc492b5b-036e-4452-ac96-4fa312ce29ef	g.chr16:61687935G>A	ENST00000577390.1	-	12	2931	c.1977C>T	c.(1975-1977)gaC>gaT	p.D659D	CDH8_ENST00000299345.6_Silent_p.D659D|CDH8_ENST00000577730.1_Silent_p.D659D	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	659					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)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTTCTCGAACGTCTTCATCAT	0.393																																						ENST00000577390.1																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(1975-1977)gaC>gaT		cadherin 8, type 2							101	96	97					16																	61687935		2203	4300	6503	SO:0001819	synonymous_variant	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61687935G>A	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1977C>T	16.37:g.61687935G>A						CDH8_ENST00000299345.6_Silent_p.D659D|CDH8_ENST00000577730.1_Silent_p.D659D	p.D659D	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	12	2931	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	659					B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	ENST00000577390.1	37	c.1977C>T	CCDS10802.1																																																																																				0.393	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		8	122	0	0	0	0.335167	0	8	122					A	61687935	G	A	61687935	2	1	194	1	0	0	0	0	0	0	0	1	3116	1136	40	1		1	CDH8	16	61687935	Silent	SNP	G	TCGA-EL-A3CO-01A-11D-A19J-08		61687935	28666818	7	4042											
BACH1	571	broad.mit.edu	37	chr21	30699014	30699014	+	Frame_Shift_Del	DEL	A	A	-													attagcaatggaacctgaagAaacgaagaaagatcctgctt							TCGA-EL-A3CO-01A-11D-A19J-08	TCGA-EL-A3CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba1f48c1-8d38-4a91-ba08-a8ecb63cac88	bc492b5b-036e-4452-ac96-4fa312ce29ef	g.chr21:30699014delA	ENST00000399921.1	+	3	1112	c.869delA	c.(868-870)gaafs	p.E290fs	BACH1_ENST00000286800.3_Frame_Shift_Del_p.E290fs	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0	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)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						GAACCTGAAGAAACGAAGAAA	0.428																																						ENST00000399921.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						c.(868-870)gafs		BTB and CNC homology 1, basic leucine zipper transcription factor 1							82	84	83					21																	30699014		2203	4300	6503	SO:0001589	frameshift_variant	571					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr21:30699014delA	AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"BTB/POZ domain containing", "basic leucine zipper proteins"	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.869delA	21.37:g.30699014delA	ENSP00000382805:p.Glu290fs					BACH1_ENST00000286800.3_Frame_Shift_Del_p.E290fs	p.E290fs	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN			3	1112	+			290					Q3MJE2|Q8NCI5	Frame_Shift_Del	DEL	ENST00000399921.1	37	c.869delA	CCDS13585.1																																																																																				0.428	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171974.1	NM_206866		13	121						13	121	---	---	---	---	-	30699014	A	-	30699014	7	5	194	1	0	1	0	1	0	0	0	0	1283	246	9	0	875	0	BACH1	21	30699014	Frame_Shift_Del	DEL	A	TCGA-EL-A3CO-01A-11D-A19J-08		30699014	17430881	8	4043											
EIF1AX	1964	broad.mit.edu	37	chrX	20156731	20156731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacccctgcgtctgtttttaCctcctttacctgatggttta	6	12	1	1			TCGA-EL-A3CO-01A-11D-A19J-08	TCGA-EL-A3CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba1f48c1-8d38-4a91-ba08-a8ecb63cac88	bc492b5b-036e-4452-ac96-4fa312ce29ef	g.chrX:20156731C>T	ENST00000379607.5	-	2	229	c.26G>A	c.(25-27)gGt>gAt	p.G9D	snoU2_19_ENST00000364722.1_RNA|snoU2-30_ENST00000365012.1_RNA|EIF1AX_ENST00000379593.1_Intron|EIF1AX-AS1_ENST00000424026.1_RNA	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	9					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						TCTGTTTTTACCTCCTTTACC	0.313																																						ENST00000379607.5																			0				endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.(25-27)gGt>gAt		eukaryotic translation initiation factor 1A, X-linked							143	133	136					X																	20156731		2203	4300	6503	SO:0001583	missense	1964					cytosol	translation initiation factor activity	g.chrX:20156731C>T	L18960	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674			3250	protein-coding gene	gene with protein product		300186	"eukaryotic translation initiation factor 1A, X chromosome"	EIF4C, EIF1A		8106356, 9381176	Standard	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.26G>A	X.37:g.20156731C>T	ENSP00000368927:p.Gly9Asp					EIF1AX_ENST00000379593.1_Intron	p.G9D	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN			2	229	-			9					B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Missense_Mutation	SNP	ENST00000379607.5	37	c.26G>A	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.618536	0.66787	.	.	ENSG00000173674	ENST00000379607	T	0.48201	0.82	4.94	4.94	0.65067	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.79021	0.4376	H	0.96301	3.8	0.80722	D	1	D	0.62365	0.991	D	0.74023	0.982	D	0.86715	0.1938	9	0.87932	D	0	-11.9247	17.661	0.88193	0.0:1.0:0.0:0.0	.	9	P47813	IF1AX_HUMAN	D	9	ENSP00000368927:G9D	ENSP00000368927:G9D	G	-	2	0	EIF1AX	20066652	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	7.237000	0.78164	2.187000	0.69744	0.600000	0.82982	GGT		0.313	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1			15	56	0	0	0	0.500413	0	15	56					T	20156731	C	T	20156731	3	4	194	1	0	0	0	0	1	0	0	0	4992	507	18	2	432	2	EIF1AX	23	20156731	Missense_Mutation	SNP	C	TCGA-EL-A3CO-01A-11D-A19J-08		20156731	135113829	9	4044											
CNKSR1	10256	broad.mit.edu	37	chr1	26515956	26515956	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actccacagaacagtcccccCactccctgccctctgaccct	4	22	1	2	rs1045105	byFrequency	TCGA-EL-A3CP-01A-11D-A19J-08	TCGA-EL-A3CP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	064b25ee-8746-499f-96f9-9bbde3961bb8	5aeaaf99-9861-46f1-b614-7cf0ed7f11dd	g.chr1:26515956C>T	ENST00000374253.5	+	21	2119	c.2080C>T	c.(2080-2082)Cac>Tac	p.H694Y	CNKSR1_ENST00000361530.6_Missense_Mutation_p.H687Y|CATSPER4_ENST00000456354.2_5'Flank|CNKSR1_ENST00000531191.1_Missense_Mutation_p.H429Y	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	694				H -> N (in Ref. 1; AAC80558). {ECO:0000305}.	Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)	p.H687Y(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		ACAGTCCCCCCACTCCCTGCC	0.637													C|||	88	0.0175719	0.0605	0.0101	5008	,	,		17563	0		0	False		,,,				2504	0.001				NSCLC(180;1396 2109 28270 30756 34275)	ENST00000531191.1																			1	Substitution - Missense(1)	p.H687Y(1)	kidney(1)	breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(1285-1287)Cac>Tac		connector enhancer of kinase suppressor of Ras 1							132	134	133					1																	26515956		2203	4300	6503	SO:0001583	missense	10256				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	g.chr1:26515956C>T	AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.2080C>T	1.37:g.26515956C>T	ENSP00000363371:p.His694Tyr					CNKSR1_ENST00000374253.5_Missense_Mutation_p.H694Y|CNKSR1_ENST00000361530.6_Missense_Mutation_p.H687Y	p.H429Y			Q969H4	CNKR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)	20	2292	+		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	694			PH.		B1AMW9|O95381	Missense_Mutation	SNP	ENST00000374253.5	37	c.1285C>T		.	.	.	.	.	.	.	.	.	.	C	0.015	-1.559943	0.00910	.	.	ENSG00000142675	ENST00000361530;ENST00000374253;ENST00000531191	T;T;T	0.14266	2.53;2.53;2.52	4.66	2.77	0.32553	.	1.288580	0.04684	N	0.412844	T	0.11495	0.0280	L	0.44542	1.39	0.80722	P	0.0	B;B	0.22604	0.044;0.072	B;B	0.19946	0.018;0.027	T	0.40478	-0.9561	9	0.02654	T	1	-0.9495	6.9902	0.24751	0.1255:0.6606:0.1346:0.0793	.	694;687	Q969H4;Q53GM7	CNKR1_HUMAN;.	Y	687;694;429	ENSP00000354609:H687Y;ENSP00000363371:H694Y;ENSP00000431817:H429Y	ENSP00000354609:H687Y	H	+	1	0	CNKSR1	26388543	0.000000	0.05858	0.005000	0.12908	0.007000	0.05969	0.030000	0.13688	0.660000	0.30964	-0.808000	0.03180	CAC		0.637	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314		4	70	0	0	0	1	0	4	70					T	26515956	C	T	26515956	3	4	195	1	0	0	0	0	1	0	0	0	3606	594	21	2	2141	2	CNKSR1	1	26515956	Missense_Mutation	SNP	C	TCGA-EL-A3CP-01A-11D-A19J-08		26515956	222734665	1	4045											
IGSF3	3321	broad.mit.edu	37	chr1	117150895	117150895	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatgcatctgaactccacCggctcgcccaccgtgtgcag	11	15	1	1	rs61730485		TCGA-EL-A3CP-01A-11D-A19J-08	TCGA-EL-A3CP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	064b25ee-8746-499f-96f9-9bbde3961bb8	5aeaaf99-9861-46f1-b614-7cf0ed7f11dd	g.chr1:117150895C>T	ENST00000369486.3	-	5	1656	c.891G>A	c.(889-891)ccG>ccA	p.P297P	IGSF3_ENST00000318837.6_Silent_p.P297P|IGSF3_ENST00000369483.1_Silent_p.P297P	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	297	Ig-like C2-type 3.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TGAACTCCACCGGCTCGCCCA	0.542																																						ENST00000369486.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62						c.(889-891)ccG>ccA		immunoglobulin superfamily, member 3							13	15	14					1																	117150895		2109	4190	6299	SO:0001819	synonymous_variant	3321					integral to membrane		g.chr1:117150895C>T	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.891G>A	1.37:g.117150895C>T						IGSF3_ENST00000369483.1_Silent_p.P297P|IGSF3_ENST00000318837.6_Silent_p.P297P	p.P297P	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	5	1656	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	297			Ig-like C2-type 3.		A6NJZ6|A6NMC7	Silent	SNP	ENST00000369486.3	37	c.891G>A	CCDS30813.1																																																																																				0.542	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		3	33	0	0	0	1	0	3	33					T	117150895	C	T	117150895	2	4	195	1	0	0	0	0	0	0	0	1	7601	639	23	1		1	IGSF3	1	117150895	Silent	SNP	C	TCGA-EL-A3CP-01A-11D-A19J-08	90634939	117150895	132099726	2	4046											
OR2T35	403244	broad.mit.edu	37	chr1	248801588	248801588	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatactctgggagtccctgCtagcccttcctgatcacagt	9	13	2	2	rs180849677	byFrequency	TCGA-EL-A3CP-01A-11D-A19J-08	TCGA-EL-A3CP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	064b25ee-8746-499f-96f9-9bbde3961bb8	5aeaaf99-9861-46f1-b614-7cf0ed7f11dd	g.chr1:248801588C>T	ENST00000317450.3	-	1	971	c.972G>A	c.(970-972)taG>taA	p.*324*		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGAGTCCCTGCTAGCCCTTCC	0.552													C|||	77	0.0153754	0.0522	0.0101	5008	,	,		4750	0		0.001	False		,,,				2504	0					ENST00000317450.3																			0				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6						c.e1+1		olfactory receptor, family 2, subfamily T, member 35							21	6	12					1																	248801588		1903	2671	4574	SO:0001630	splice_region_variant	403244				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248801588C>T	BK004475	CCDS31123.1	1q44	2012-08-09			ENSG00000177151	ENSG00000177151		"GPCR / Class A : Olfactory receptors"	31257	protein-coding gene	gene with protein product							Standard	NM_001001827		Approved		uc001ies.1	Q8NGX2	OTTHUMG00000040380	ENST00000317450.3:c.969+1G>A	1.37:g.248801588C>T							p.*324_splice	NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	971	-	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	0					Q6IEY7	Splice_Site	SNP	ENST00000317450.3	37	c.969_splice	CCDS31123.1																																																																																				0.552	OR2T35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097130.1	NM_001001827	Silent	4	58	0	0	0	1	0	4	58					T	248801588	C	T	248801588	5	4	195	1	0	0	0	0	0	0	1	0	11026	811	28	2	3	2	OR2T35	1	248801588	Splice_Site	SNP	C	TCGA-EL-A3CP-01A-11D-A19J-08	131650693	248801588	449033	3	4047											
FYCO1	79443	broad.mit.edu	37	chr3	46009289	46009289	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaggaactgcagctgccGggtcagagacctgacctcct	11	15	1	2	rs141828619		TCGA-EL-A3CP-01A-11D-A19J-08	TCGA-EL-A3CP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	064b25ee-8746-499f-96f9-9bbde3961bb8	5aeaaf99-9861-46f1-b614-7cf0ed7f11dd	g.chr3:46009289G>A	ENST00000296137.2	-	8	1742	c.1537C>T	c.(1537-1539)Cgg>Tgg	p.R513W	FYCO1_ENST00000535325.1_Missense_Mutation_p.R513W	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	513					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TGCAGCTGCCGGGTCAGAGAC	0.582																																						ENST00000296137.2																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(1537-1539)Cgg>Tgg		FYVE and coiled-coil domain containing 1		G	TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	91	95	94		1537	-2.0	0.1	3	dbSNP_134	94	0,8600		0,0,4300	yes	missense	FYCO1	NM_024513.2	101	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	513/1479	46009289	3,13003	2203	4300	6503	SO:0001583	missense	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46009289G>A	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"Zinc fingers, FYVE domain containing"	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.1537C>T	3.37:g.46009289G>A	ENSP00000296137:p.Arg513Trp					FYCO1_ENST00000535325.1_Missense_Mutation_p.R513W	p.R513W	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	8	1742	-			513					B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	c.1537C>T	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	G	10.46	1.356931	0.24598	6.81E-4	0.0	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.21361	2.01;2.02	5.33	-1.97	0.07503	.	0.524023	0.20597	N	0.089237	T	0.10380	0.0254	L	0.31294	0.92	0.09310	N	0.999999	B;B	0.20052	0.041;0.041	B;B	0.10450	0.004;0.005	T	0.14868	-1.0457	10	0.54805	T	0.06	-24.1064	1.3055	0.02087	0.1672:0.3404:0.2196:0.2728	.	513;513	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	W	513	ENSP00000296137:R513W;ENSP00000441178:R513W	ENSP00000296137:R513W	R	-	1	2	FYCO1	45984293	0.007000	0.16637	0.099000	0.21106	0.976000	0.68499	0.358000	0.20216	-0.034000	0.13713	0.655000	0.94253	CGG		0.582	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		5	142	0	0	0	1	0	5	142					A	46009289	G	A	46009289	3	1	195	1	0	0	0	0	1	0	0	0	6125	1115	39	1	2943	1	FYCO1	3	46009289	Missense_Mutation	SNP	G	TCGA-EL-A3CP-01A-11D-A19J-08		46009289	152013141	4	4048											
KIAA1109	84162	broad.mit.edu	37	chr4	123193357	123193357	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacatgtaaagttgtgtttgAgaatgaacaagacaacagca	9	5	0	3			TCGA-EL-A3CP-01A-11D-A19J-08	TCGA-EL-A3CP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	064b25ee-8746-499f-96f9-9bbde3961bb8	5aeaaf99-9861-46f1-b614-7cf0ed7f11dd	g.chr4:123193357A>G	ENST00000264501.4	+	48	8616	c.8243A>G	c.(8242-8244)gAg>gGg	p.E2748G	KIAA1109_ENST00000455637.1_Missense_Mutation_p.E2748G|KIAA1109_ENST00000388738.3_Missense_Mutation_p.E2748G			Q2LD37	K1109_HUMAN	KIAA1109	2748					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTTGTGTTTGAGAATGAACAA	0.383																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(8242-8244)gAg>gGg		KIAA1109							93	88	90					4																	123193357		1912	4113	6025	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123193357A>G	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.8243A>G	4.37:g.123193357A>G	ENSP00000264501:p.Glu2748Gly					KIAA1109_ENST00000455637.1_Missense_Mutation_p.E2748G|KIAA1109_ENST00000388738.3_Missense_Mutation_p.E2748G	p.E2748G			Q2LD37	K1109_HUMAN			48	8616	+			2748					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.8243A>G	CCDS43267.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	22.5|22.5|22.5	4.302448|4.302448|4.302448	0.81136|0.81136|0.81136	.|.|.	.|.|.	ENSG00000138688|ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000446180|ENST00000419325	T;T;T|.|.	0.25749|.|.	2.36;2.36;1.78|.|.	5.87|5.87|5.87	5.87|5.87|5.87	0.94306|0.94306|0.94306	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.60996|0.60996|.	0.2312|0.2312|.	L|L|L	0.40543|0.40543|0.40543	1.245|1.245|1.245	0.53005|0.53005|0.53005	D|D|D	0.999962|0.999962|0.999962	D;D;D|.|.	0.76494|.|.	0.989;0.999;0.998|.|.	D;D;D|.|.	0.78314|.|.	0.979;0.991;0.979|.|.	T|T|.	0.57033|0.57033|.	-0.7880|-0.7880|.	10|5|.	0.72032|.|.	D|.|.	0.01|.|.	.|.|.	16.2774|16.2774|16.2774	0.82651|0.82651|0.82651	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	2748;2747;2748|.|.	Q2LD37-6;Q2LD37-2;Q2LD37|.|.	.;.;K1109_HUMAN|.|.	G|G|W	2748|1321|705	ENSP00000264501:E2748G;ENSP00000373390:E2748G;ENSP00000389925:E2748G|.|.	ENSP00000264501:E2748G|.|.	E|R|X	+|+|+	2|1|3	0|2|0	KIAA1109|KIAA1109|KIAA1109	123412807|123412807|123412807	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	8.739000|8.739000|8.739000	0.91574|0.91574|0.91574	2.247000|2.247000|2.247000	0.74100|0.74100|0.74100	0.482000|0.482000|0.482000	0.46254|0.46254|0.46254	GAG|AGA|TGA		0.383	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		14	48	0	0	0	1	0	14	48					G	123193357	A	G	123193357	3	3	195	1	0	0	0	0	1	0	0	0	8208	304	11	3	8425	3	KIAA1109	4	123193357	Missense_Mutation	SNP	A	TCGA-EL-A3CP-01A-11D-A19J-08		123193357	67960919	5	4049											
HK3	3101	broad.mit.edu	37	chr5	176314337	176314337	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggccaggaaatcccctcgCtctgtgggggcagagaccct	14	13	1	1			TCGA-EL-A3CP-01A-11D-A19J-08	TCGA-EL-A3CP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	064b25ee-8746-499f-96f9-9bbde3961bb8	5aeaaf99-9861-46f1-b614-7cf0ed7f11dd	g.chr5:176314337C>T	ENST00000292432.5	-	12	1693	c.1602G>A	c.(1600-1602)gaG>gaA	p.E534E		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	534	Catalytic.|Hexokinase type-1 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AATCCCCTCGCTCTGTGGGGG	0.637																																						ENST00000292432.5																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.e12-1		hexokinase 3 (white cell)							68	75	73					5																	176314337		2203	4300	6503	SO:0001630	splice_region_variant	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176314337C>T		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.1601-1G>A	5.37:g.176314337C>T							p.E534_splice	NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		12	1693	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	534			Catalytic.		Q8N1E7	Splice_Site	SNP	ENST00000292432.5	37	c.1600_splice	CCDS4407.1																																																																																				0.637	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1		Silent	13	39	0	0	0	1	0	13	39					T	176314337	C	T	176314337	5	4	195	1	0	0	0	0	0	0	1	0	7192	811	28	2	1201	2	HK3	5	176314337	Splice_Site	SNP	C	TCGA-EL-A3CP-01A-11D-A19J-08		176314337	4600923	6	4050											
TDRD6	221400	broad.mit.edu	37	chr6	46656684	46656684	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccagctccgcagcgtctcGcaggagatccaccgcctctc	10	18	2	1			TCGA-EL-A3CP-01A-11D-A19J-08	TCGA-EL-A3CP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	064b25ee-8746-499f-96f9-9bbde3961bb8	5aeaaf99-9861-46f1-b614-7cf0ed7f11dd	g.chr6:46656684G>A	ENST00000316081.6	+	1	819	c.819G>A	c.(817-819)tcG>tcA	p.S273S	RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA|TDRD6_ENST00000544460.1_Silent_p.S273S|RP11-446F17.3_ENST00000422284.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	273					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GCAGCGTCTCGCAGGAGATCC	0.627																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(817-819)tcG>tcA		tudor domain containing 6							31	28	29					6																	46656684		2202	4300	6502	SO:0001819	synonymous_variant	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46656684G>A	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.819G>A	6.37:g.46656684G>A						TDRD6_ENST00000316081.6_Silent_p.S273S	p.S273S	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	1073	+			273					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Silent	SNP	ENST00000316081.6	37	c.819G>A	CCDS34470.1																																																																																				0.627	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		3	23	0	0	0	1	0	3	23					A	46656684	G	A	46656684	2	1	195	1	0	0	0	0	0	0	0	1	15731	1074	38	1		1	TDRD6	6	46656684	Silent	SNP	G	TCGA-EL-A3CP-01A-11D-A19J-08		46656684	124458383	7	4051											
TYW1	55253	broad.mit.edu	37	chr7	66474575	66474575	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttggtcctattagggattCgcaacagttcttgctgaagc	10	8	1	1	rs376806090		TCGA-EL-A3CP-01A-11D-A19J-08	TCGA-EL-A3CP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	064b25ee-8746-499f-96f9-9bbde3961bb8	5aeaaf99-9861-46f1-b614-7cf0ed7f11dd	g.chr7:66474575C>T	ENST00000359626.5	+	4	443	c.279C>T	c.(277-279)ttC>ttT	p.F93F		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	93	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				ATTAGGGATTCGCAACAGTTC	0.398																																						ENST00000359626.5																			0				breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(277-279)ttC>ttT		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)							134	119	124					7																	66474575		2203	4300	6503	SO:0001819	synonymous_variant	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66474575C>T	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"	611243	"radical S-adenosyl methionine and flavodoxin domains 1"	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.279C>T	7.37:g.66474575C>T							p.F93F	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN			4	443	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	93			Flavodoxin-like.		Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Silent	SNP	ENST00000359626.5	37	c.279C>T	CCDS5538.1																																																																																				0.398	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		5	75	0	0	0	1	0	5	75					T	66474575	C	T	66474575	2	4	195	1	0	0	0	0	0	0	0	1	16815	883	31	1		1	TYW1	7	66474575	Silent	SNP	C	TCGA-EL-A3CP-01A-11D-A19J-08		66474575	92664088	8	4052											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3CP-01A-11D-A19J-08	TCGA-EL-A3CP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	064b25ee-8746-499f-96f9-9bbde3961bb8	5aeaaf99-9861-46f1-b614-7cf0ed7f11dd	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		35	57	0	0	0	1	0	35	57					T	140453136	A	T	140453136	3	4	195	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3CP-01A-11D-A19J-08	73978561	140453136	18685527	9	4053											
FLJ46321	389763	broad.mit.edu	37	chr9	84606454	84606454	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	accttgcatcttcagaattcAcctggtggcagcctcatgcc	8	14	4	1			TCGA-EL-A3CP-01A-11D-A19J-08	TCGA-EL-A3CP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	064b25ee-8746-499f-96f9-9bbde3961bb8	5aeaaf99-9861-46f1-b614-7cf0ed7f11dd	g.chr9:84606454A>T	ENST00000344803.2	+	4	1116	c.1069A>T	c.(1069-1071)Acc>Tcc	p.T357S		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	357					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TTCAGAATTCACCTGGTGGCA	0.463																																						ENST00000344803.2																			0											c.(1069-1071)Acc>Tcc		SPATA31 subfamily D, member 1							144	131	135					9																	84606454		1911	4138	6049	SO:0001583	missense	389763							g.chr9:84606454A>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1069A>T	9.37:g.84606454A>T	ENSP00000341988:p.Thr357Ser						p.T357S	NM_001001670.2	NP_001001670.1					4	1116	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.1069A>T	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	T	0.013	-1.643233	0.00792	.	.	ENSG00000214929	ENST00000344803	T	0.02916	4.11	2.87	-0.897	0.10553	.	0.954226	0.08565	N	0.926948	T	0.00552	0.0018	N	0.00057	-2.36	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45789	-0.9237	10	0.02654	T	1	0.1707	3.1464	0.06473	0.2025:0.3803:0.0:0.4172	.	357	Q6ZQQ2	F75D1_HUMAN	S	357	ENSP00000341988:T357S	ENSP00000341988:T357S	T	+	1	0	FAM75D1	83796274	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.003000	0.13083	-0.512000	0.06505	-0.262000	0.10625	ACC		0.463	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		4	109	0	0	0	1	0	4	109					T	84606454	A	T	84606454	3	4	195	1	0	0	0	0	1	0	0	0	5932	159	6	5	1083	5	FLJ46321	9	84606454	Missense_Mutation	SNP	A	TCGA-EL-A3CP-01A-11D-A19J-08		84606454	56606977	10	4054											
DFNB31	25861	broad.mit.edu	37	chr9	117166263	117166263	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacaccgactgccttcctcgGcctggggcgctggcctctgc	13	17	1	0			TCGA-EL-A3CP-01A-11D-A19J-08	TCGA-EL-A3CP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	064b25ee-8746-499f-96f9-9bbde3961bb8	5aeaaf99-9861-46f1-b614-7cf0ed7f11dd	g.chr9:117166263G>T	ENST00000362057.3	-	10	2499	c.2331C>A	c.(2329-2331)ggC>ggA	p.G777G	DFNB31_ENST00000374059.3_Silent_p.G426G|DFNB31_ENST00000265134.6_Silent_p.G394G	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	777					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCCTTCCTCGGCCTGGGGCGC	0.652																																						ENST00000362057.3																			0				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(2329-2331)ggC>ggA		deafness, autosomal recessive 31							84	73	77					9																	117166263		2203	4300	6503	SO:0001819	synonymous_variant	25861				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		g.chr9:117166263G>T	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"whirlin"	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.2331C>A	9.37:g.117166263G>T						DFNB31_ENST00000265134.6_Silent_p.G394G|DFNB31_ENST00000374059.3_Silent_p.G426G	p.G777G	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN			10	2499	-			777					A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Silent	SNP	ENST00000362057.3	37	c.2331C>A	CCDS6806.1																																																																																				0.652	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		41	84	1	0	2.58029e-29	1	2.84493e-29	41	84					T	117166263	G	T	117166263	2	4	195	1	0	0	0	0	0	0	0	1	4455	1190	42	4		4	DFNB31	9	117166263	Silent	SNP	G	TCGA-EL-A3CP-01A-11D-A19J-08	32559809	117166263	24047168	11	4055											
AGAP6	414189	broad.mit.edu	37	chr10	51768543	51768543	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actattcctcctccattccaTcgactcccagcaccagccag	4	19	0	0	rs368970869		TCGA-EL-A3CP-01A-11D-A19J-08	TCGA-EL-A3CP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	064b25ee-8746-499f-96f9-9bbde3961bb8	5aeaaf99-9861-46f1-b614-7cf0ed7f11dd	g.chr10:51768543T>C	ENST00000374056.4	+	7	987	c.589T>C	c.(589-591)Tcg>Ccg	p.S197P	AGAP6_ENST00000412531.3_Missense_Mutation_p.S220P			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	197					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.S220P(3)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						CTCCATTCCATCGACTCCCAG	0.532																																						ENST00000374056.4																			3	Substitution - Missense(3)	p.S220P(3)	endometrium(2)|NS(1)	NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						c.(589-591)Tcg>Ccg		ArfGAP with GTPase domain, ankyrin repeat and PH domain 6																																				SO:0001583	missense	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51768543T>C		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	23466	protein-coding gene	gene with protein product			"centaurin, gamma-like family, member 3"	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.589T>C	10.37:g.51768543T>C	ENSP00000363168:p.Ser197Pro					AGAP6_ENST00000412531.3_Missense_Mutation_p.S220P	p.S197P			C9IYN2	C9IYN2_HUMAN			7	987	+			220						Missense_Mutation	SNP	ENST00000374056.4	37	c.589T>C		.	.	.	.	.	.	.	.	.	.	.	7.332	0.619129	0.14129	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	T	0.56776	0.44	0.0465	0.0465	0.14256	.	0.149774	0.46145	D	0.000318	T	0.42314	0.1197	M	0.65498	2.005	0.37828	D	0.92861	B	0.14012	0.009	B	0.13407	0.009	T	0.20140	-1.0284	10	0.31617	T	0.26	.	4.565	0.12180	0.0:6.0E-4:0.0:0.9994	.	220	C9IYN2	.	P	220;197	ENSP00000400972:S197P	ENSP00000363168:S220P	S	+	1	0	AGAP6	51438549	1.000000	0.71417	0.059000	0.19551	0.060000	0.15804	3.691000	0.54720	0.115000	0.18071	0.113000	0.15668	TCG		0.532	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		5	128	0	0	0	1	0	5	128					C	51768543	T	C	51768543	3	2	195	1	0	0	0	0	1	0	0	0	372	1435	50	3	688	3	AGAP6	10	51768543	Missense_Mutation	SNP	T	TCGA-EL-A3CP-01A-11D-A19J-08		51768543	83766204	12	4056											
LAT	27040	broad.mit.edu	37	chr16	28996725	28996725	+	5'UTR	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggtgcagccagcctgctccGagctcccctgcagatggagg	15	14	0	1	rs77760721	byFrequency	TCGA-EL-A3CP-01A-11D-A19J-08	TCGA-EL-A3CP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	064b25ee-8746-499f-96f9-9bbde3961bb8	5aeaaf99-9861-46f1-b614-7cf0ed7f11dd	g.chr16:28996725G>A	ENST00000360872.5	+	0	65				LAT_ENST00000395461.3_Missense_Mutation_p.R32Q|LAT_ENST00000566177.1_5'Flank|LAT_ENST00000563964.1_3'UTR|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000395456.2_5'UTR|LAT_ENST00000354453.4_5'Flank|LAT_ENST00000564277.1_5'UTR|LAT_ENST00000454369.2_5'UTR			O43561	LAT_HUMAN	linker for activation of T cells						blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|gene expression (GO:0010467)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lymphocyte homeostasis (GO:0002260)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|regulation of T cell activation (GO:0050863)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH3/SH2 adaptor activity (GO:0005070)			large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				AGCCTGCTCCGAGCTCCCCTG	0.667													G|||	78	0.0155751	0.0567	0.0043	5008	,	,		15377	0		0	False		,,,				2504	0					ENST00000395461.3																			0				large_intestine(2)|lung(3)|urinary_tract(1)	6						c.(94-96)cGa>cAa		linker for activation of T cells		G	,,GLN/ARG,	207,4187	124.5+/-161.8	9,189,1999	46	41	43		,,95,	-0.1	0.0	16	dbSNP_132	43	2,8598	1.2+/-3.3	0,2,4298	yes	utr-5,utr-5,missense,utr-5	LAT	NM_001014987.1,NM_001014988.1,NM_001014989.1,NM_014387.3	,,43,	9,191,6297	AA,AG,GG		0.0233,4.711,1.6084	,,,	,,32/270,	28996725	209,12785	2197	4300	6497	SO:0001623	5_prime_UTR_variant	0				calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity	g.chr16:28996725G>A	AF036905	CCDS10647.1, CCDS32425.1, CCDS45455.1, CCDS53999.1	16q13	2011-11-01			ENSG00000213658	ENSG00000213658			18874	protein-coding gene	gene with protein product	"linker for activation of T cells, transmembrane adaptor"	602354				9489702	Standard	NM_014387		Approved	LAT1	uc010vdj.2	O43561	OTTHUMG00000131761	ENST00000360872.5:c.-14G>A	16.37:g.28996725G>A						LAT_ENST00000395456.2_5'UTR|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000454369.2_5'UTR|LAT_ENST00000360872.5_5'UTR|LAT_ENST00000563964.1_3'UTR|LAT_ENST00000564277.1_5'UTR	p.R32Q	NM_001014989.1	NP_001014989.2	O43561	LAT_HUMAN			2	131	+		Hepatocellular(780;0.244)	236					B7WPI0|C7C5T6|G5E9K3|O43919	Missense_Mutation	SNP	ENST00000360872.5	37	c.95G>A	CCDS10647.1	27	0.012362637362637362	26	0.052845528455284556	1	0.0027624309392265192	0	0.0	0	0.0	G	18.88	3.717261	0.68844	0.04711	2.33E-4	ENSG00000213658	ENST00000395461	.	.	.	3.79	-0.0848	0.13689	.	.	.	.	.	T	0.02267	0.0070	N	0.08118	0	0.09310	N	0.999999	B	0.12630	0.006	B	0.04013	0.001	T	0.23440	-1.0188	8	0.20046	T	0.44	0.1718	6.0968	0.20025	0.5364:0.0:0.4636:0.0	.	32	B7WPI0	.	Q	32	.	ENSP00000378845:R32Q	R	+	2	0	LAT	28904226	0.000000	0.05858	0.004000	0.12327	0.486000	0.33341	-2.695000	0.00828	0.006000	0.14734	0.462000	0.41574	CGA		0.667	LAT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254688.2			3	26	0	0	0	1	0	3	26					A	28996725	G	A	28996725	1	1	195	0	1	0	0	0	0	0	0	0	8644	1058	37	1		1	LAT	16	28996725	5'UTR	SNP	G	TCGA-EL-A3CP-01A-11D-A19J-08		28996725	61358028	13	4057											
CES1	1066	broad.mit.edu	37	chr16	55855375	55855375	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgttgtcctggacccagcGcagggcagccacctggtcca	12	14	0	0	rs563293177		TCGA-EL-A3CP-01A-11D-A19J-08	TCGA-EL-A3CP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	064b25ee-8746-499f-96f9-9bbde3961bb8	5aeaaf99-9861-46f1-b614-7cf0ed7f11dd	g.chr16:55855375G>T	ENST00000361503.4	-	5	725	c.595C>A	c.(595-597)Cgc>Agc	p.R199S	CES1_ENST00000566555.1_5'UTR|CES1_ENST00000422046.2_Missense_Mutation_p.R199S|CES1_ENST00000360526.3_Missense_Mutation_p.R200S			P23141	EST1_HUMAN	carboxylesterase 1	199			R -> H (in dbSNP:rs2307243).		epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	TGGACCCAGCGCAGGGCAGCC	0.587																																					NSCLC(162;1801 2756 42904 52896)	ENST00000422046.2																			0											c.(595-597)Cgc>Agc		carboxylesterase 1	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)						49	51	50					16																	55855375		2198	4300	6498	SO:0001583	missense	1066				response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55855375G>T	BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"Carboxylesterases"	1863	protein-coding gene	gene with protein product	"human monocyte/macrophage serine esterase 1"	114835	"carboxylesterase 1 (monocyte/macrophage serine esterase 1)"			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.595C>A	16.37:g.55855375G>T	ENSP00000355193:p.Arg199Ser					CES1_ENST00000566555.1_5'UTR|CES1_ENST00000360526.3_Missense_Mutation_p.R200S|CES1_ENST00000361503.4_Missense_Mutation_p.R199S	p.R199S			P23141	EST1_HUMAN		all cancers(182;0.13)|Epithelial(162;0.137)	5	876	-			199		R -> H (in dbSNP:rs2307243).			A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	ENST00000361503.4	37	c.595C>A	CCDS45488.1	.	.	.	.	.	.	.	.	.	.	.	13.42	2.230494	0.39399	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046;ENST00000426667	T;T;T	0.70399	-0.48;-0.48;-0.48	4.18	4.18	0.49190	Carboxylesterase, type B (1);	0.736535	0.12828	N	0.435838	T	0.73666	0.3616	M	0.81802	2.56	0.23673	N	0.99714	B;B;B	0.20368	0.024;0.024;0.044	B;B;B	0.23716	0.033;0.033;0.048	T	0.66670	-0.5865	10	0.51188	T	0.08	.	14.0527	0.64747	0.0:0.0:1.0:0.0	.	199;199;200	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	S	200;199;199;64	ENSP00000353720:R200S;ENSP00000355193:R199S;ENSP00000390492:R199S	ENSP00000353720:R200S	R	-	1	0	CES1	54412876	0.961000	0.32948	0.578000	0.28575	0.533000	0.34776	5.401000	0.66326	1.906000	0.55180	0.456000	0.33151	CGC		0.587	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266		3	35	1	0	0.184627	1	0.184627	3	35					T	55855375	G	T	55855375	3	4	195	1	0	0	0	0	1	0	0	0	3269	1087	38	4	1148	4	CES1	16	55855375	Missense_Mutation	SNP	G	TCGA-EL-A3CP-01A-11D-A19J-08	26858650	55855375	34499378	14	4058											
ZNF407	55628	broad.mit.edu	37	chr18	72346448	72346448	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactgaagaagaatctaattTcaatgaagaccattcctttt	6	7	2	5			TCGA-EL-A3CP-01A-11D-A19J-08	TCGA-EL-A3CP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	064b25ee-8746-499f-96f9-9bbde3961bb8	5aeaaf99-9861-46f1-b614-7cf0ed7f11dd	g.chr18:72346448T>C	ENST00000299687.5	+	1	3473	c.3473T>C	c.(3472-3474)tTc>tCc	p.F1158S	ZNF407_ENST00000309902.6_Missense_Mutation_p.F1158S|ZNF407_ENST00000582337.1_Missense_Mutation_p.F1158S|ZNF407_ENST00000577538.1_Missense_Mutation_p.F1158S	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1158					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GAATCTAATTTCAATGAAGAC	0.383																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(3472-3474)tTc>tCc		zinc finger protein 407							63	65	64					18																	72346448		1879	4135	6014	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72346448T>C	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.3473T>C	18.37:g.72346448T>C	ENSP00000299687:p.Phe1158Ser					ZNF407_ENST00000582337.1_Missense_Mutation_p.F1158S|ZNF407_ENST00000577538.1_Missense_Mutation_p.F1158S|ZNF407_ENST00000309902.6_Missense_Mutation_p.F1158S	p.F1158S	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	3473	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	1158					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.3473T>C	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	T	9.998	1.232794	0.22626	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.08984	3.03;3.47	5.86	4.71	0.59529	.	0.527164	0.19270	N	0.118421	T	0.03136	0.0092	N	0.08118	0	0.09310	N	1	B;P;B	0.37276	0.435;0.589;0.255	B;B;B	0.27500	0.08;0.058;0.026	T	0.44034	-0.9354	10	0.45353	T	0.12	.	2.2165	0.03961	0.1908:0.081:0.1334:0.5948	.	1158;1158;1158	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	S	1158	ENSP00000299687:F1158S;ENSP00000310359:F1158S	ENSP00000299687:F1158S	F	+	2	0	ZNF407	70475436	0.020000	0.18652	0.135000	0.22099	0.737000	0.42083	2.225000	0.42954	-0.173000	0.10761	0.655000	0.94253	TTC		0.383	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		21	82	0	0	0	1	0	21	82					C	72346448	T	C	72346448	3	2	195	1	0	0	0	0	1	0	0	0	17884	1783	62	3	3475	3	ZNF407	18	72346448	Missense_Mutation	SNP	T	TCGA-EL-A3CP-01A-11D-A19J-08		72346448	5730800	15	4059											
PPAP2C	8612	broad.mit.edu	37	chr19	281534	281534	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagtctgagatgtagcAgacctggtagagcagagggt	16	5	1	5	rs61738956	byFrequency	TCGA-EL-A3CP-01A-11D-A19J-08	TCGA-EL-A3CP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	064b25ee-8746-499f-96f9-9bbde3961bb8	5aeaaf99-9861-46f1-b614-7cf0ed7f11dd	g.chr19:281534A>G	ENST00000269812.3	-	6	770	c.721T>C	c.(721-723)Tgc>Cgc	p.C241R	PPAP2C_ENST00000327790.3_Missense_Mutation_p.C262R|PPAP2C_ENST00000434325.2_Missense_Mutation_p.C185R	NM_003712.2|NM_177526.1	NP_003703.1|NP_803545.1	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C	241					dephosphorylation (GO:0016311)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GAGATGTAGCAGACCTGGTAG	0.617													.|||	4	0.000798722	0.003	0	5008	,	,		16144	0		0	False		,,,				2504	0					ENST00000269812.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5						c.(721-723)Tgc>Cgc		phosphatidic acid phosphatase type 2C		G	ARG/CYS,ARG/CYS,ARG/CYS	16,4390		0,16,2187	72	64	67		721,553,784	0.2	0.3	19	dbSNP_129	67	0,8600		0,0,4300	yes	missense,missense,missense	PPAP2C	NM_003712.2,NM_177526.1,NM_177543.1	180,180,180	0,16,6487	GG,GA,AA		0.0,0.3631,0.123	benign,benign,benign	241/289,185/233,262/310	281534	16,12990	2203	4300	6503	SO:0001583	missense	8612				sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr19:281534A>G	AF035959	CCDS12023.1, CCDS12024.1, CCDS45889.1	19p13	2009-05-27				ENSG00000141934	3.1.3.4		9230	protein-coding gene	gene with protein product		607126				9570154, 9607309	Standard	NM_177543		Approved	PAP-2c, LPP2	uc002loh.3	O43688		ENST00000269812.3:c.721T>C	19.37:g.281534A>G	ENSP00000269812:p.Cys241Arg					PPAP2C_ENST00000434325.2_Missense_Mutation_p.C185R|PPAP2C_ENST00000327790.3_Missense_Mutation_p.C262R	p.C241R	NM_003712.2|NM_177526.1	NP_003703.1|NP_803545.1	O43688	LPP2_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)	6	770	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	241					A6NLV0|E9PAY8	Missense_Mutation	SNP	ENST00000269812.3	37	c.721T>C	CCDS12023.1	.	.	.	.	.	.	.	.	.	.	.	1.421	-0.572972	0.03882	0.003631	0.0	ENSG00000141934	ENST00000269812;ENST00000327790;ENST00000434325	T;T;T	0.73363	-0.74;-0.74;-0.74	5.05	0.224	0.15297	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.335612	0.30168	N	0.010257	T	0.30572	0.0769	N	0.00064	-2.31	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.50423	-0.8830	10	0.44086	T	0.13	-25.9811	9.7739	0.40607	0.3795:0.0:0.6205:0.0	.	241;262	O43688;O43688-2	LPP2_HUMAN;.	R	241;262;185	ENSP00000269812:C241R;ENSP00000329697:C262R;ENSP00000388565:C185R	ENSP00000269812:C241R	C	-	1	0	PPAP2C	232534	0.053000	0.20554	0.260000	0.24451	0.251000	0.25915	1.204000	0.32296	-0.070000	0.12908	-0.349000	0.07799	TGC		0.617	PPAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451777.2			3	42	0	0	0	1	0	3	42					G	281534	A	G	281534	3	3	195	1	0	0	0	0	1	0	0	0	12292	188	7	3	149	3	PPAP2C	19	281534	Missense_Mutation	SNP	A	TCGA-EL-A3CP-01A-11D-A19J-08		281534	58847449	16	4060											
SHANK1	50944	broad.mit.edu	37	chr19	51171632	51171634	+	In_Frame_Del	DEL	GCC	GCC	-													ggggcggggctgggcgaggaGccgccgccgccgccgcctcc							TCGA-EL-A3CP-01A-11D-A19J-08	TCGA-EL-A3CP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	064b25ee-8746-499f-96f9-9bbde3961bb8	5aeaaf99-9861-46f1-b614-7cf0ed7f11dd	g.chr19:51171632_51171634delGCC	ENST00000293441.1	-	22	3601_3603	c.3583_3585delGGC	c.(3583-3585)ggcdel	p.G1195del	SHANK1_ENST00000391813.1_In_Frame_Del_p.G582del|SHANK1_ENST00000359082.3_In_Frame_Del_p.G1186del|SHANK1_ENST00000391814.1_In_Frame_Del_p.G1203del|SYT3_ENST00000544769.1_5'UTR	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1195	Poly-Gly.				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)		tgggcgaggAGCCGCCGCCGCCG	0.808																																						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.(3583-3585)del		SH3 and multiple ankyrin repeat domains 1				27,1311		6,15,648						0.9	0.7			4	98,3172		20,58,1557	no	coding	SHANK1	NM_016148.2		26,73,2205	A1A1,A1R,RR		2.9969,2.0179,2.7127				125,4483				SO:0001651	inframe_deletion	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51171632_51171634delGCC	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.3583_3585delGGC	19.37:g.51171641_51171643delGCC	ENSP00000293441:p.Gly1195del					SYT3_ENST00000544769.1_5'UTR|SHANK1_ENST00000359082.3_In_Frame_Del_p.G1186del|SHANK1_ENST00000391814.1_In_Frame_Del_p.G1203del|SHANK1_ENST00000391813.1_In_Frame_Del_p.G582del	p.G1195del	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	22	3601_3603	-		all_neural(266;0.057)	1195			Poly-Gly.		A8MXP5|B7WNY6|Q9NYW9	In_Frame_Del	DEL	ENST00000293441.1	37	c.3583_3585delGGC	CCDS12799.1																																																																																				0.808	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		2	4						2	4	---	---	---	---	-	51171634	GCC	-	51171632	7	5	195	1	0	1	0	1	0	0	0	0	14264	958	34	0	2908	0	SHANK1	19	51171632	In_Frame_Del	DEL	GCC	TCGA-EL-A3CP-01A-11D-A19J-08	50890098	51171632	7957351	17	4061											
SH3BGR	6450	broad.mit.edu	37	chr21	40834416	40834416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggatgagagagaatgttcCtggagagaaaaaacctcaaa	12	5	1	3			TCGA-EL-A3CP-01A-11D-A19J-08	TCGA-EL-A3CP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	064b25ee-8746-499f-96f9-9bbde3961bb8	5aeaaf99-9861-46f1-b614-7cf0ed7f11dd	g.chr21:40834416C>T	ENST00000333634.4	+	2	428	c.350C>T	c.(349-351)cCt>cTt	p.P117L	SH3BGR_ENST00000380637.3_Missense_Mutation_p.P6L|SH3BGR_ENST00000458295.1_Missense_Mutation_p.P6L|SH3BGR_ENST00000380634.1_Missense_Mutation_p.P6L|SH3BGR_ENST00000380631.1_Missense_Mutation_p.P6L	NM_007341.2	NP_031367	P55822	SH3BG_HUMAN	SH3 domain binding glutamate-rich protein	117					positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		GAGAATGTTCCTGGAGAGAAA	0.418																																						ENST00000333634.4																			0				NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8						c.(349-351)cCt>cTt		SH3 domain binding glutamic acid-rich protein							106	115	112					21																	40834416		2203	4300	6503	SO:0001583	missense	6450				protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity	g.chr21:40834416C>T		CCDS13666.1, CCDS33560.1	21q22.3	2014-02-19	2014-02-19		ENSG00000185437	ENSG00000185437			10822	protein-coding gene	gene with protein product	"21-glutamic acid-rich protein"	602230	"SH3 domain binding glutamic acid-rich protein"			9050928	Standard	NM_007341		Approved	21-GARP	uc002yya.3	P55822	OTTHUMG00000074113	ENST00000333634.4:c.350C>T	21.37:g.40834416C>T	ENSP00000332513:p.Pro117Leu					SH3BGR_ENST00000380634.1_Missense_Mutation_p.P6L|SH3BGR_ENST00000380637.3_Missense_Mutation_p.P6L|SH3BGR_ENST00000380631.1_Missense_Mutation_p.P6L|SH3BGR_ENST00000458295.1_Missense_Mutation_p.P6L	p.P117L	NM_007341.2	NP_031367.1	P55822	SH3BG_HUMAN		STAD - Stomach adenocarcinoma(101;0.00151)	2	428	+		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)	117					A6ND59|D3DSI2|Q9BRB8	Missense_Mutation	SNP	ENST00000333634.4	37	c.350C>T	CCDS13666.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.932479	0.92458	.	.	ENSG00000185437	ENST00000380637;ENST00000380634;ENST00000458295;ENST00000440288;ENST00000380631;ENST00000333634	T;T;T;T;T	0.77489	0.62;0.62;0.72;0.62;-1.1	4.98	4.98	0.66077	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	D	0.89210	0.6650	M	0.83692	2.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90663	0.4592	10	0.72032	D	0.01	.	18.6519	0.91433	0.0:1.0:0.0:0.0	.	117	P55822	SH3BG_HUMAN	L	6;6;6;6;6;117	ENSP00000370011:P6L;ENSP00000370008:P6L;ENSP00000401572:P6L;ENSP00000370005:P6L;ENSP00000332513:P117L	ENSP00000332513:P117L	P	+	2	0	SH3BGR	39756286	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	7.319000	0.79040	2.479000	0.83701	0.655000	0.94253	CCT		0.418	SH3BGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157377.6	NM_007341		4	61	0	0	0	1	0	4	61					T	40834416	C	T	40834416	3	4	195	1	0	0	0	0	1	0	0	0	14240	681	24	2	356	2	SH3BGR	21	40834416	Missense_Mutation	SNP	C	TCGA-EL-A3CP-01A-11D-A19J-08		40834416	7295479	18	4062											
AJAP1	55966	broad.mit.edu	37	chr1	4832584	4832584	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatccacatttaatggaaacCggtaagctcgggctctgcta	9	10	1	0			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr1:4832584C>T	ENST00000378191.4	+	4	1543	c.1162C>T	c.(1162-1164)Cga>Tga	p.R388*	AJAP1_ENST00000378190.3_Splice_Site_p.R388*	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	388	Targeting signals.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		TAATGGAAACCGGTAAGCTCG	0.592																																						ENST00000378191.4																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.e4+1		adherens junctions associated protein 1							36	38	37					1																	4832584		2203	4300	6503	SO:0001630	splice_region_variant	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4832584C>T	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"transmembrane protein SHREW1"	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.1163+1C>T	1.37:g.4832584C>T						AJAP1_ENST00000378190.3_Splice_Site_p.R388_splice	p.R388_splice	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	4	1543	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	388			Targeting signals.		Q9Y229	Splice_Site	SNP	ENST00000378191.4	37	c.1163_splice	CCDS54.1	.	.	.	.	.	.	.	.	.	.	C	36	5.869872	0.97049	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	.	.	.	5.12	1.66	0.24008	.	0.110724	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.7829	11.906	0.52713	0.7006:0.2994:0.0:0.0	.	.	.	.	X	388	.	ENSP00000367432:R388X	R	+	1	2	AJAP1	4732444	1.000000	0.71417	1.000000	0.80357	0.634000	0.38068	2.713000	0.47194	0.476000	0.27440	0.561000	0.74099	CGA		0.592	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836	Nonsense_Mutation	4	26	0	0	0	0.009096	0	4	26					T	4832584	C	T	4832584	5	4	196	1	0	0	0	0	0	0	1	0	438	666	23	1	1176	1	AJAP1	1	4832584	Splice_Site	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08		4832584	244418037	1	4063											
LUZP1	7798	broad.mit.edu	37	chr1	23418878	23418878	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgcaggttgattaaccCcttctttatgtgaggttgaa	10	8	1	3			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr1:23418878C>A	ENST00000302291.4	-	4	2678	c.1877G>T	c.(1876-1878)gGg>gTg	p.G626V	LUZP1_ENST00000418342.1_Missense_Mutation_p.G626V|LUZP1_ENST00000374623.3_Missense_Mutation_p.G626V|LUZP1_ENST00000314174.5_Missense_Mutation_p.G626V			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	626					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TTGATTAACCCCTTCTTTATG	0.473																																						ENST00000302291.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(1876-1878)gGg>gTg		leucine zipper protein 1							181	180	180					1																	23418878		2203	4300	6503	SO:0001583	missense	7798					nucleus		g.chr1:23418878C>A	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.1877G>T	1.37:g.23418878C>A	ENSP00000303758:p.Gly626Val					LUZP1_ENST00000418342.1_Missense_Mutation_p.G626V|LUZP1_ENST00000374623.3_Missense_Mutation_p.G626V|LUZP1_ENST00000314174.5_Missense_Mutation_p.G626V	p.G626V			Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	2678	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	626					Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	c.1877G>T	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.436190	0.25813	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.15017	2.68;2.68;2.68;2.46	5.55	2.2	0.27929	.	0.152547	0.30714	N	0.009034	T	0.17874	0.0429	L	0.51422	1.61	0.40179	D	0.977273	P;D	0.53462	0.825;0.96	P;P	0.47891	0.463;0.56	T	0.02339	-1.1174	10	0.54805	T	0.06	.	5.8231	0.18538	0.0:0.4951:0.3329:0.1721	.	626;626	Q86V48-2;Q86V48	.;LUZP1_HUMAN	V	626	ENSP00000393460:G626V;ENSP00000363752:G626V;ENSP00000303758:G626V;ENSP00000313705:G626V	ENSP00000303758:G626V	G	-	2	0	LUZP1	23291465	0.017000	0.18338	0.716000	0.30569	0.404000	0.30871	0.164000	0.16542	1.324000	0.45282	0.650000	0.86243	GGG		0.473	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		4	149	1	0	3.59834e-05	0.021553	4.45508e-05	4	149					A	23418878	C	A	23418878	3	1	196	1	0	0	0	0	1	0	0	0	9086	623	22	4	1361	4	LUZP1	1	23418878	Missense_Mutation	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08	18586294	23418878	225831743	2	4064											
HIST3H2A	92815	broad.mit.edu	37	chr1	228645400	228645400	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggcgcccacgcgctccgaaTagttgcccttgcggagcaac	12	16	0	0			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr1:228645400T>C	ENST00000366695.2	-	1	160	c.119A>G	c.(118-120)tAt>tGt	p.Y40C	HIST3H2BB_ENST00000369160.2_5'Flank	NM_033445.2	NP_254280.1	Q7L7L0	H2A3_HUMAN	histone cluster 3, H2a	40					nucleosome disassembly (GO:0006337)|UV-damage excision repair (GO:0070914)	extracellular vesicular exosome (GO:0070062)|nuclear nucleosome (GO:0000788)	DNA binding (GO:0003677)			endometrium(1)|lung(3)|ovary(1)	5		Prostate(94;0.183)				GCGCTCCGAATAGTTGCCCTT	0.721																																						ENST00000366695.2																			0				endometrium(1)|lung(3)|ovary(1)	5						c.(118-120)tAt>tGt		histone cluster 3, H2a							16	20	19					1																	228645400		2197	4295	6492	SO:0001583	missense	92815				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:228645400T>C	AY131974	CCDS1573.1	1q42.13	2011-01-27	2006-10-11		ENSG00000181218	ENSG00000181218		"Histones / Replication-dependent"	20507	protein-coding gene	gene with protein product		615015	"histone 3, H2a"			12408966	Standard	NM_033445		Approved	MGC3165	uc001hsy.3	Q7L7L0	OTTHUMG00000040046	ENST00000366695.2:c.119A>G	1.37:g.228645400T>C	ENSP00000355656:p.Tyr40Cys						p.Y40C	NM_033445.2	NP_254280.1	Q7L7L0	H2A3_HUMAN			1	160	-		Prostate(94;0.183)	40					B2R4S4	Missense_Mutation	SNP	ENST00000366695.2	37	c.119A>G	CCDS1573.1	.	.	.	.	.	.	.	.	.	.	.	13.12	2.142140	0.37825	.	.	ENSG00000181218	ENST00000366695	T	0.69806	-0.43	4.07	4.07	0.47477	Histone-fold (2);Histone core (1);Histone H2A (1);	0.000000	0.43747	D	0.000529	D	0.85639	0.5743	H	0.99130	4.44	0.43835	D	0.996416	D	0.56035	0.974	P	0.54664	0.758	D	0.90450	0.4438	10	0.87932	D	0	.	11.646	0.51261	0.0:0.0:0.0:1.0	.	40	Q7L7L0	H2A3_HUMAN	C	40	ENSP00000355656:Y40C	ENSP00000355656:Y40C	Y	-	2	0	HIST3H2A	226712023	1.000000	0.71417	0.124000	0.21820	0.151000	0.21798	7.262000	0.78410	2.062000	0.61559	0.533000	0.62120	TAT		0.721	HIST3H2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096598.1	NM_033445		3	20	0	0	0	0.115264	0	3	20					C	228645400	T	C	228645400	3	2	196	1	0	0	0	0	1	0	0	0	7182	1406	49	3	277	3	HIST3H2A	1	228645400	Missense_Mutation	SNP	T	TCGA-EL-A3CR-01A-12D-A202-08	205226522	228645400	20605221	3	4065											
DNMT3A	1788	broad.mit.edu	37	chr2	25469564	25469564	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaatcatgggcttgttctGcacctccacggccttggcag	10	13	3	0			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr2:25469564G>A	ENST00000264709.3	-	10	1541	c.1204C>T	c.(1204-1206)Cag>Tag	p.Q402*	DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.Q179*|DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.Q402*|DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.Q213*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	402	Interaction with DNMT1 and DNMT3B.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCTTGTTCTGCACCTCCACG	0.637			"Mis, F, N, S"		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"Mis, F, N, S"	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(1204-1206)Cag>Tag		DNA (cytosine-5-)-methyltransferase 3 alpha							78	76	76					2																	25469564		2203	4299	6502	SO:0001587	stop_gained	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25469564G>A		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1204C>T	2.37:g.25469564G>A	ENSP00000264709:p.Gln402*					DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.Q179*|DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.Q213*|DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.Q402*	p.Q402*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			10	1541	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		402			Interaction with DNMT1 and DNMT3B.		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Nonsense_Mutation	SNP	ENST00000264709.3	37	c.1204C>T	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	G	38	6.959320	0.97964	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	.	.	.	4.87	4.87	0.63330	.	0.202763	0.42294	D	0.000724	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-10.7878	15.5438	0.76077	0.0:0.0:1.0:0.0	.	.	.	.	X	213;402;402;179	.	ENSP00000264709:Q402X	Q	-	1	0	DNMT3A	25323068	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.285000	0.65633	2.535000	0.85469	0.655000	0.94253	CAG		0.637	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		5	102	0	0	0	0.014758	0	5	102					A	25469564	G	A	25469564	4	1	196	1	0	0	0	0	0	1	0	0	4676	1328	46	2	1590	2	DNMT3A	2	25469564	Nonsense_Mutation	SNP	G	TCGA-EL-A3CR-01A-12D-A202-08		25469564	217729809	4	4066											
TMF1	7110	broad.mit.edu	37	chr3	69088082	69088082	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aagacggccaagatctttctCttggcgttctaccatggaat	9	10	3	2			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr3:69088082C>G	ENST00000398559.2	-	7	2122	c.1906G>C	c.(1906-1908)Gag>Cag	p.E636Q	CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.E639Q|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000595925.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	636					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		AGATCTTTCTCTTGGCGTTCT	0.373																																						ENST00000543976.1																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1915-1917)Gag>Cag		TATA element modulatory factor 1							144	131	135					3																	69088082		1845	4084	5929	SO:0001583	missense	7110				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	g.chr3:69088082C>G		CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.1906G>C	3.37:g.69088082C>G	ENSP00000381567:p.Glu636Gln					CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.E636Q|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA	p.E639Q	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)	7	2161	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	636					B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	ENST00000398559.2	37	c.1915G>C	CCDS43105.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.815256	0.70912	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248	T;T	0.21932	1.98;1.98	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.49813	0.1579	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.47005	-0.9150	10	0.54805	T	0.06	-15.5026	19.486	0.95028	0.0:1.0:0.0:0.0	.	639;636	P82094-2;P82094	.;TMF1_HUMAN	Q	636;639;552	ENSP00000381567:E636Q;ENSP00000438706:E639Q	ENSP00000348582:E552Q	E	-	1	0	TMF1	69170772	1.000000	0.71417	0.999000	0.59377	0.228000	0.25075	7.670000	0.83925	2.615000	0.88500	0.573000	0.79308	GAG		0.373	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114		4	40	0	0	0	0.009096	0	4	40					G	69088082	C	G	69088082	3	3	196	1	0	0	0	0	1	0	0	0	16225	922	32	4	1419	4	TMF1	3	69088082	Missense_Mutation	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08		69088082	128934348	5	4067											
PIK3CA	5290	broad.mit.edu	37	chr3	178916938	178916940	+	In_Frame_Del	DEL	GAA	GAA	-													ttgaaccagtaggcaaccgtGaagaaaagatcctcaatcga							TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr3:178916938_178916940delGAA	ENST00000263967.3	+	2	482_484	c.325_327delGAA	c.(325-327)gaadel	p.E110del		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	110					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|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)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E109del(3)|p.G106_R108del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AGGCAACCGTGAAGAAAAGATCC	0.34		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		4	Deletion - In frame(4)	p.E109del(3)|p.G106_R108del(1)	endometrium(2)|large_intestine(1)|lung(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(325-327)del		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha																																				SO:0001651	inframe_deletion	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916938_178916940delGAA		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.325_327delGAA	3.37:g.178916941_178916943delGAA	ENSP00000263967:p.Glu110del	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E110del	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	482_484	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		110					Q14CW1|Q99762	In_Frame_Del	DEL	ENST00000263967.3	37	c.325_327delGAA	CCDS43171.1																																																																																				0.34	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			10	68						10	68	---	---	---	---	-	178916940	GAA	-	178916938	7	5	196	1	0	1	0	1	0	0	0	0	11913	1291	45	0	327	0	PIK3CA	3	178916938	In_Frame_Del	DEL	GAA	TCGA-EL-A3CR-01A-12D-A202-08	109828856	178916938	19105492	6	4068											
KIAA1530	57654	broad.mit.edu	37	chr4	1347109	1347109	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gacagccacaggtgacccctCagatgaggacgaggacagcg	14	12	1	3			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr4:1347109C>G	ENST00000389851.4	+	5	1289	c.842C>G	c.(841-843)tCa>tGa	p.S281*	UVSSA_ENST00000507531.1_Nonsense_Mutation_p.S281*|UVSSA_ENST00000511216.1_Nonsense_Mutation_p.S281*	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	281					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										GGTGACCCCTCAGATGAGGAC	0.662																																						ENST00000389851.4																			0											c.(841-843)tCa>tGa		UV-stimulated scaffold protein A							17	18	18					4																	1347109		2194	4284	6478	SO:0001587	stop_gained	57654							g.chr4:1347109C>G	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"KIAA1530"	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.842C>G	4.37:g.1347109C>G	ENSP00000374501:p.Ser281*					UVSSA_ENST00000511216.1_Nonsense_Mutation_p.S281*|UVSSA_ENST00000507531.1_Nonsense_Mutation_p.S281*	p.S281*	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN			5	1289	+			281					A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Nonsense_Mutation	SNP	ENST00000389851.4	37	c.842C>G	CCDS33938.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808368	0.90707	.	.	ENSG00000163945	ENST00000511216;ENST00000389851;ENST00000507531	.	.	.	2.83	-0.72	0.11195	.	6.878550	0.00465	N	0.000110	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	2.0479	0.03564	0.1427:0.4563:0.141:0.26	.	.	.	.	X	281	.	ENSP00000374501:S281X	S	+	2	0	KIAA1530	1337109	0.001000	0.12720	0.058000	0.19502	0.202000	0.24057	0.126000	0.15769	0.024000	0.15214	0.591000	0.81541	TCA		0.662	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		4	18	0	0	0	0.009096	0	4	18					G	1347109	C	G	1347109	4	3	196	1	0	0	0	0	0	1	0	0	8241	838	29	4	856	4	KIAA1530	4	1347109	Nonsense_Mutation	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08		1347109	189807167	7	4069											
KIAA0232	9778	broad.mit.edu	37	chr4	6826286	6826286	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatgtctctgcttcatgctTtgggtccagtgcagacctgg	11	10	2	1			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr4:6826286T>G	ENST00000307659.5	+	3	561	c.106T>G	c.(106-108)Ttg>Gtg	p.L36V	KIAA0232_ENST00000425103.1_Missense_Mutation_p.L36V	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	36							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						GCTTCATGCTTTGGGTCCAGT	0.488																																						ENST00000307659.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						c.(106-108)Ttg>Gtg		KIAA0232							198	199	198					4																	6826286		1977	4164	6141	SO:0001583	missense	9778						ATP binding	g.chr4:6826286T>G	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.106T>G	4.37:g.6826286T>G	ENSP00000303928:p.Leu36Val					KIAA0232_ENST00000425103.1_Missense_Mutation_p.L36V	p.L36V	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN			3	561	+			36					A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	37	c.106T>G	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	T	19.47	3.834290	0.71373	.	.	ENSG00000170871	ENST00000508423;ENST00000425103;ENST00000307659	.	.	.	5.93	-3.62	0.04543	.	0.000000	0.85682	D	0.000000	T	0.64811	0.2632	L	0.53249	1.67	0.39055	D	0.960419	D	0.89917	1.0	D	0.85130	0.997	T	0.64245	-0.6453	8	.	.	.	-13.4343	12.4188	0.55508	0.0:0.4348:0.0:0.5652	.	36	Q92628	K0232_HUMAN	V	36	.	.	L	+	1	2	KIAA0232	6877187	1.000000	0.71417	0.254000	0.24359	0.999000	0.98932	1.524000	0.35942	-0.627000	0.05589	0.533000	0.62120	TTG		0.488	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		4	101	0	0	0	0.009096	0	4	101					G	6826286	T	G	6826286	3	3	196	1	0	0	0	0	1	0	0	0	8163	1838	64	5	108	5	KIAA0232	4	6826286	Missense_Mutation	SNP	T	TCGA-EL-A3CR-01A-12D-A202-08	5479177	6826286	184327990	8	4070											
FASTKD3	79072	broad.mit.edu	37	chr5	7868025	7868025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttttacaatgggcatgatGgaatttgaccccgaaaggct	10	8	0	2			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr5:7868025G>A	ENST00000264669.5	-	2	308	c.172C>T	c.(172-174)Cat>Tat	p.H58Y	MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	58					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGGGCATGATGGAATTTGACC	0.433																																						ENST00000264669.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(172-174)Cat>Tat		FAST kinase domains 3							92	95	94					5																	7868025		2203	4300	6503	SO:0001583	missense	79072				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr5:7868025G>A	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.172C>T	5.37:g.7868025G>A	ENSP00000264669:p.His58Tyr					FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron	p.H58Y	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN			2	308	-			58					Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	37	c.172C>T	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	G	3.204	-0.163170	0.06502	.	.	ENSG00000124279	ENST00000264669;ENST00000504695;ENST00000507572	T;T;T	0.24538	1.85;1.85;1.85	5.05	3.26	0.37387	.	0.763697	0.12048	N	0.504390	T	0.21962	0.0529	L	0.48362	1.52	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.25152	-1.0140	10	0.20519	T	0.43	-1.4451	9.8793	0.41222	0.1615:0.0:0.8385:0.0	.	58	Q14CZ7	FAKD3_HUMAN	Y	58;58;41	ENSP00000264669:H58Y;ENSP00000426008:H58Y;ENSP00000422443:H41Y	ENSP00000264669:H58Y	H	-	1	0	FASTKD3	7921025	0.082000	0.21442	0.002000	0.10522	0.001000	0.01503	1.954000	0.40362	0.718000	0.32166	-0.136000	0.14681	CAT		0.433	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		12	51	0	0	0	0.09319	0	12	51					A	7868025	G	A	7868025	3	1	196	1	0	0	0	0	1	0	0	0	5687	1348	47	2	1840	2	FASTKD3	5	7868025	Missense_Mutation	SNP	G	TCGA-EL-A3CR-01A-12D-A202-08		7868025	173047235	9	4071											
HOMER1	9456	broad.mit.edu	37	chr5	78752789	78752789	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggtacccagttcttctttgTgtttgggtcaatttggaaga	12	6	3	1			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr5:78752789T>A	ENST00000334082.6	-	2	1500	c.58A>T	c.(58-60)Aca>Tca	p.T20S	HOMER1_ENST00000508576.1_Missense_Mutation_p.T20S|HOMER1_ENST00000282260.6_Missense_Mutation_p.T20S|HOMER1_ENST00000535690.1_Intron	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	20	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				behavioral response to cocaine (GO:0048148)|chemical homeostasis within a tissue (GO:0048875)|circadian rhythm (GO:0007623)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of signal transduction (GO:0009967)|protein localization to synapse (GO:0035418)|regulation of calcium ion import (GO:0090279)|regulation of cation channel activity (GO:2001257)|regulation of store-operated calcium entry (GO:2001256)|response to calcium ion (GO:0051592)|response to nicotine (GO:0035094)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell junction (GO:0030054)|costamere (GO:0043034)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|signaling adaptor activity (GO:0035591)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		TTCTTCTTTGTGTTTGGGTCA	0.423																																						ENST00000334082.6																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14						c.(58-60)Aca>Tca		homer homolog 1 (Drosophila)							251	235	240					5																	78752789		1900	4119	6019	SO:0001583	missense	9456				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane		g.chr5:78752789T>A	BC015502	CCDS43335.1, CCDS64188.1, CCDS64189.1	5q14.2	2008-02-05			ENSG00000152413	ENSG00000152413			17512	protein-coding gene	gene with protein product		604798				9808459, 9808458	Standard	NM_004272		Approved	Ves-1, SYN47, HOMER-1B	uc003kfy.4	Q86YM7	OTTHUMG00000134278	ENST00000334082.6:c.58A>T	5.37:g.78752789T>A	ENSP00000334382:p.Thr20Ser					HOMER1_ENST00000282260.6_Missense_Mutation_p.T20S|HOMER1_ENST00000535690.1_Intron|HOMER1_ENST00000508576.1_Missense_Mutation_p.T20S	p.T20S	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)	2	1500	-		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)	20			WH1.		B2R688|O96003|Q86YM5	Missense_Mutation	SNP	ENST00000334082.6	37	c.58A>T	CCDS43335.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.970294	0.74246	.	.	ENSG00000152413	ENST00000334082;ENST00000508576;ENST00000282260	D;D;D	0.98649	-5.05;-5.05;-5.05	5.93	5.93	0.95920	EVH1 (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.99093	0.9688	M	0.79805	2.47	0.80722	D	1	P;D;D	0.89917	0.695;0.963;1.0	P;P;D	0.87578	0.768;0.844;0.998	D	0.99780	1.1027	10	0.62326	D	0.03	-9.2544	16.3766	0.83401	0.0:0.0:0.0:1.0	.	20;20;20	Q86YM7-2;Q86YM7-3;Q86YM7	.;.;HOME1_HUMAN	S	20	ENSP00000334382:T20S;ENSP00000426651:T20S;ENSP00000282260:T20S	ENSP00000282260:T20S	T	-	1	0	HOMER1	78788545	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.263000	0.75096	0.533000	0.62120	ACA		0.423	HOMER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258856.1	NM_004272		4	118	0	0	0	0.014758	0	4	118					A	78752789	T	A	78752789	3	1	196	1	0	0	0	0	1	0	0	0	7278	1696	59	5	1038	5	HOMER1	5	78752789	Missense_Mutation	SNP	T	TCGA-EL-A3CR-01A-12D-A202-08	70884764	78752789	102162471	10	4072											
DMXL1	1657	broad.mit.edu	37	chr5	118506950	118506950	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atctgtaagaatggaattgaTtttgcttttgcaagaatctc	8	5	2	3			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr5:118506950T>G	ENST00000311085.8	+	24	6544	c.6464T>G	c.(6463-6465)aTt>aGt	p.I2155S	DMXL1_ENST00000539542.1_Missense_Mutation_p.I2155S	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2155										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ATGGAATTGATTTTGCTTTTG	0.353																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(6463-6465)aTt>aGt		Dmx-like 1							56	56	56					5																	118506950		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118506950T>G	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.6464T>G	5.37:g.118506950T>G	ENSP00000309690:p.Ile2155Ser					DMXL1_ENST00000539542.1_Missense_Mutation_p.I2155S	p.I2155S	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	24	6544	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2155						Missense_Mutation	SNP	ENST00000311085.8	37	c.6464T>G	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	T	18.88	3.717334	0.68844	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.78003	-1.14;-1.14	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.86146	0.5863	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.972	D	0.87741	0.2585	10	0.87932	D	0	-18.385	15.1943	0.73075	0.0:0.0:0.0:1.0	.	2155;2155	F5H269;Q9Y485	.;DMXL1_HUMAN	S	2155	ENSP00000309690:I2155S;ENSP00000439479:I2155S	ENSP00000309690:I2155S	I	+	2	0	DMXL1	118534849	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.258000	0.72487	1.996000	0.58369	0.460000	0.39030	ATT		0.353	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		4	33	0	0	0	0.009096	0	4	33					G	118506950	T	G	118506950	3	3	196	1	0	0	0	0	1	0	0	0	4594	1493	52	5	6558	5	DMXL1	5	118506950	Missense_Mutation	SNP	T	TCGA-EL-A3CR-01A-12D-A202-08	39754161	118506950	62408310	11	4073											
PCDHA3	56145	broad.mit.edu	37	chr5	140181292	140181292	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaattcgttgttgacttaCagtcttgattccactgaata	6	8	1	3			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr5:140181292C>T	ENST00000522353.2	+	1	510	c.510C>T	c.(508-510)taC>taT	p.Y170Y	PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.Y170Y|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	170	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)			TGTTGACTTACAGTCTTGATT	0.393																																						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.(508-510)taC>taT									74	78	77					5																	140181292		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140181292C>T	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.510C>T	5.37:g.140181292C>T						PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.Y170Y|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.Y170Y	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	510	+								O75286	Silent	SNP	ENST00000522353.2	37	c.510C>T	CCDS54915.1																																																																																				0.393	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		6	68	0	0	0	0.021553	0	6	68					T	140181292	C	T	140181292	2	4	196	1	0	0	0	0	0	0	0	1	11525	489	17	2		2	PCDHA3	5	140181292	Silent	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08	21674342	140181292	40733968	12	4074											
PCDHGA12	26025	broad.mit.edu	37	chr5	140812302	140812302	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccctctctccgccactgtcaCgctcaccgtggccgtggccg	10	20	3	0	rs564582881		TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr5:140812302C>G	ENST00000252085.3	+	1	2118	c.1976C>G	c.(1975-1977)aCg>aGg	p.T659R	PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	659	Cadherin 6. {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)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCACTGTCACGCTCACCGTG	0.667																																						ENST00000252085.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58						c.(1975-1977)aCg>aGg									33	43	40					5																	140812302		2190	4268	6458	SO:0001583	missense	0							g.chr5:140812302C>G	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"Cadherins / Protocadherins : Clustered"	8699	other	protocadherin	"fibroblast cadherin FIB3"	603059	"cadherin 21"	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.1976C>G	5.37:g.140812302C>G	ENSP00000252085:p.Thr659Arg					PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron	p.T659R	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2118	+								O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.1976C>G	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	c	13.37	2.216494	0.39201	.	.	ENSG00000253159	ENST00000252085	T	0.54866	0.55	5.1	3.19	0.36642	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.57917	0.2086	M	0.69358	2.11	0.24408	N	0.994673	P;P	0.44877	0.845;0.711	P;P	0.50617	0.646;0.583	T	0.51593	-0.8686	9	0.72032	D	0.01	.	5.9973	0.19501	0.1368:0.6536:0.1329:0.0767	.	659;659	O60330-2;O60330	.;PCDGC_HUMAN	R	659	ENSP00000252085:T659R	ENSP00000252085:T659R	T	+	2	0	PCDHGA12	140792486	0.000000	0.05858	0.982000	0.44146	0.546000	0.35178	0.239000	0.18023	1.261000	0.44149	0.561000	0.74099	ACG		0.667	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		13	104	0	0	0	0.09319	0	13	104					G	140812302	C	G	140812302	3	3	196	1	0	0	0	0	1	0	0	0	11553	536	19	4	1978	4	PCDHGA12	5	140812302	Missense_Mutation	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08	631010	140812302	40102958	13	4075											
HIST1H2AH	85235	broad.mit.edu	37	chr6	27114964	27114964	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccaaggccaagacccgctcTtctcgggctgggcttcagtt	12	14	3	1			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr6:27114964T>G	ENST00000377459.1	+	1	104	c.57T>G	c.(55-57)tcT>tcG	p.S19S	HIST1H2BK_ENST00000396891.4_5'Flank|HIST1H2BK_ENST00000356950.1_5'Flank|MIR3143_ENST00000584253.1_RNA	NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	19						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						AGACCCGCTCTTCTCGGGCTG	0.622																																						ENST00000377459.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						c.(55-57)tcT>tcG		histone cluster 1, H2ah							63	71	68					6																	27114964		2203	4300	6503	SO:0001819	synonymous_variant	85235				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27114964T>G	AY131988	CCDS4622.1	6p22.1	2011-01-27	2006-10-11			ENSG00000274997		"Histones / Replication-dependent"	13671	protein-coding gene	gene with protein product		615013	"histone 1, H2ah"			12408966	Standard	NM_080596		Approved	H2AFALii, dJ86C11.1, H2A/S	uc003niz.4	Q96KK5		ENST00000377459.1:c.57T>G	6.37:g.27114964T>G							p.S19S	NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN			1	104	+			19						Silent	SNP	ENST00000377459.1	37	c.57T>G	CCDS4622.1																																																																																				0.622	HIST1H2AH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040136.1	NM_080596		8	70	0	0	0	0.038147	0	8	70					G	27114964	T	G	27114964	2	3	196	1	0	0	0	0	0	0	0	1	7134	1596	56	5		5	HIST1H2AH	6	27114964	Silent	SNP	T	TCGA-EL-A3CR-01A-12D-A202-08		27114964	144000103	14	4076											
TBL2	26608	broad.mit.edu	37	chr7	72985120	72985120	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgggtattgtagagatgaAtactactgccactggccaag	12	9	0	2			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr7:72985120A>C	ENST00000305632.5	-	7	1302	c.1061T>G	c.(1060-1062)aTt>aGt	p.I354S	TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Missense_Mutation_p.I318S	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	354							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				GTAGAGATGAATACTACTGCC	0.622																																						ENST00000305632.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19						c.(1060-1062)aTt>aGt		transducin (beta)-like 2							69	75	73					7																	72985120		2203	4300	6503	SO:0001583	missense	26608							g.chr7:72985120A>C	AF056183	CCDS5551.1	7q11.23	2013-01-10			ENSG00000106638	ENSG00000106638		"WD repeat domain containing"	11586	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 13"	605842				9860302, 10575226	Standard	XM_006715923		Approved	WS-betaTRP, WBSCR13, DKFZP43N024	uc003tyh.3	Q9Y4P3	OTTHUMG00000023427	ENST00000305632.5:c.1061T>G	7.37:g.72985120A>C	ENSP00000307260:p.Ile354Ser					TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Missense_Mutation_p.I318S	p.I354S	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN			7	1302	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	354					Q9UQE2	Missense_Mutation	SNP	ENST00000305632.5	37	c.1061T>G	CCDS5551.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.619974	0.87460	.	.	ENSG00000106638	ENST00000305632;ENST00000541783;ENST00000432538	T;T	0.38240	1.15;1.15	5.98	5.98	0.97165	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.248512	0.43260	D	0.000594	T	0.61689	0.2367	M	0.82433	2.59	0.80722	D	1	D;D	0.71674	0.993;0.998	P;D	0.64595	0.878;0.927	T	0.67565	-0.5638	10	0.87932	D	0	-14.7731	14.4016	0.67050	1.0:0.0:0.0:0.0	.	318;354	E9PF19;Q9Y4P3	.;TBL2_HUMAN	S	354;354;318	ENSP00000307260:I354S;ENSP00000413979:I318S	ENSP00000307260:I354S	I	-	2	0	TBL2	72623056	1.000000	0.71417	0.348000	0.25681	0.991000	0.79684	8.962000	0.93254	2.284000	0.76573	0.533000	0.62120	ATT		0.622	TBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252233.3	NM_012453		15	83	0	0	0	0.146539	0	15	83					C	72985120	A	C	72985120	3	2	196	1	0	0	0	0	1	0	0	0	15639	101	4	5	286	5	TBL2	7	72985120	Missense_Mutation	SNP	A	TCGA-EL-A3CR-01A-12D-A202-08		72985120	86153543	15	4077											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		28	46	0	0	0	0.144211	0	28	46					T	140453136	A	T	140453136	3	4	196	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3CR-01A-12D-A202-08	67468016	140453136	18685527	16	4078											
DLC1	10395	broad.mit.edu	37	chr8	12956022	12956022	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagactggcagttaatctgtAgtgatacagagttgaggctt	12	6	1	4			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr8:12956022A>G	ENST00000276297.4	-	10	3462	c.3053T>C	c.(3052-3054)cTa>cCa	p.L1018P	DLC1_ENST00000512044.2_Missense_Mutation_p.L615P|DLC1_ENST00000358919.2_Missense_Mutation_p.L581P|DLC1_ENST00000510318.1_5'Flank|DLC1_ENST00000520226.1_Missense_Mutation_p.L507P	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1018					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GTTAATCTGTAGTGATACAGA	0.502																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(3052-3054)cTa>cCa		deleted in liver cancer 1							95	86	89					8																	12956022		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12956022A>G	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.3053T>C	8.37:g.12956022A>G	ENSP00000276297:p.Leu1018Pro					DLC1_ENST00000520226.1_Missense_Mutation_p.L507P|DLC1_ENST00000358919.2_Missense_Mutation_p.L581P|DLC1_ENST00000512044.2_Missense_Mutation_p.L615P	p.L1018P	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			10	3462	-			1018					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.3053T>C	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	A	14.09	2.430952	0.43122	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.07908	3.41;3.16;3.16;3.15	4.8	3.67	0.42095	.	0.091551	0.49305	D	0.000152	T	0.10252	0.0251	L	0.58925	1.835	0.80722	D	1	B;B;B	0.19200	0.014;0.034;0.021	B;B;B	0.20384	0.022;0.029;0.013	T	0.05500	-1.0881	10	0.44086	T	0.13	.	11.0334	0.47787	0.923:0.0:0.077:0.0	.	1018;615;581	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	P	1018;581;615;507	ENSP00000276297:L1018P;ENSP00000351797:L581P;ENSP00000422595:L615P;ENSP00000428028:L507P	ENSP00000276297:L1018P	L	-	2	0	DLC1	13000393	1.000000	0.71417	0.995000	0.50966	0.961000	0.63080	7.280000	0.78610	2.150000	0.67090	0.528000	0.53228	CTA		0.502	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		4	53	0	0	0	0.009096	0	4	53					G	12956022	A	G	12956022	3	3	196	1	0	0	0	0	1	0	0	0	4550	420	15	3	1569	3	DLC1	8	12956022	Missense_Mutation	SNP	A	TCGA-EL-A3CR-01A-12D-A202-08		12956022	133408000	17	4079											
POLR3D	661	broad.mit.edu	37	chr8	22107993	22107993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacaaacttgtatgttccCctgattttgaatccctcttg	6	11	1	2			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr8:22107993C>T	ENST00000397802.4	+	8	1374	c.1159C>T	c.(1159-1161)Cct>Tct	p.P387S	POLR3D_ENST00000306433.4_Missense_Mutation_p.P387S			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	387					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		TGTATGTTCCCCTGATTTTGA	0.547																																						ENST00000397802.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13						c.(1159-1161)Cct>Tct		polymerase (RNA) III (DNA directed) polypeptide D, 44kDa							205	178	187					8																	22107993		2203	4300	6503	SO:0001583	missense	661				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	g.chr8:22107993C>T	M17754	CCDS34858.1	8q21	2013-01-21	2003-04-01	2003-04-04	ENSG00000168495	ENSG00000168495		"RNA polymerase subunits"	1080	protein-coding gene	gene with protein product		187280	"BN51 (BHK21) temperature sensitivity complementing"	BN51T		12391170, 11279001	Standard	NM_001722		Approved	TSBN51, RPC4	uc003xbl.3	P05423	OTTHUMG00000163778	ENST00000397802.4:c.1159C>T	8.37:g.22107993C>T	ENSP00000380904:p.Pro387Ser					POLR3D_ENST00000306433.4_Missense_Mutation_p.P387S	p.P387S			P05423	RPC4_HUMAN		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	8	1374	+			387					Q6FI28|Q9BPV7|Q9BPZ1|Q9BXB3	Missense_Mutation	SNP	ENST00000397802.4	37	c.1159C>T	CCDS34858.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.299019	0.81025	.	.	ENSG00000168495	ENST00000306433;ENST00000397802	.	.	.	5.42	4.55	0.56014	.	0.049207	0.85682	D	0.000000	D	0.84973	0.5591	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88229	0.2902	9	0.87932	D	0	-15.4727	13.1527	0.59498	0.0:0.9214:0.0:0.0786	.	387	P05423	RPC4_HUMAN	S	387	.	ENSP00000303088:P387S	P	+	1	0	POLR3D	22163938	1.000000	0.71417	0.326000	0.25389	0.887000	0.51463	7.658000	0.83755	1.286000	0.44565	0.491000	0.48974	CCT		0.547	POLR3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375434.2	NM_001722		5	83	0	0	0	0.014758	0	5	83					T	22107993	C	T	22107993	3	4	196	1	0	0	0	0	1	0	0	0	12231	623	22	2	1189	2	POLR3D	8	22107993	Missense_Mutation	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08	9151971	22107993	124256029	18	4080											
VPS13B	157680	broad.mit.edu	37	chr8	100832176	100832176	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctaagtcagtgggatagCccaatgcgagtgaagctgtc	13	9	1	1			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr8:100832176C>T	ENST00000358544.2	+	49	9006	c.8895C>T	c.(8893-8895)agC>agT	p.S2965S	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.S2940S	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2965					protein transport (GO:0015031)					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)			AGTGGGATAGCCCAATGCGAG	0.393																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				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.(8893-8895)agC>agT		vacuolar protein sorting 13 homolog B (yeast)							135	127	130					8																	100832176		2203	4300	6503	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100832176C>T	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.8895C>T	8.37:g.100832176C>T						VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.S2940S	p.S2965S	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		49	9006	+	Breast(36;3.73e-07)		2965					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.8895C>T	CCDS6280.1																																																																																				0.393	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		19	48	0	0	0	0.043863	0	19	48					T	100832176	C	T	100832176	2	4	196	1	0	0	0	0	0	0	0	1	17187	738	26	2		2	VPS13B	8	100832176	Silent	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08	78724183	100832176	45531846	19	4081											
OXR1	55074	broad.mit.edu	37	chr8	107722934	107722934	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaccaatgaggaaaacgtTtgtatctcaagcaagtgcta	8	7	1	1			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr8:107722934T>C	ENST00000442977.2	+	9	1811	c.1712T>C	c.(1711-1713)tTt>tCt	p.F571S	OXR1_ENST00000531443.1_Missense_Mutation_p.F570S|OXR1_ENST00000452423.2_Missense_Mutation_p.F60S|OXR1_ENST00000445937.1_Missense_Mutation_p.F570S|OXR1_ENST00000312046.6_Missense_Mutation_p.F563S|OXR1_ENST00000517566.2_Missense_Mutation_p.F570S	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	571	Mediates oxidative antimutator activity.				adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AGGAAAACGTTTGTATCTCAA	0.378																																						ENST00000445937.1																			0				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(1708-1710)tTt>tCt		oxidation resistance 1							124	116	118					8																	107722934		2203	4300	6503	SO:0001583	missense	55074				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		g.chr8:107722934T>C	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 3"	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.1712T>C	8.37:g.107722934T>C	ENSP00000405424:p.Phe571Ser					OXR1_ENST00000452423.2_Missense_Mutation_p.F60S|OXR1_ENST00000312046.6_Missense_Mutation_p.F563S|OXR1_ENST00000531443.1_Missense_Mutation_p.F570S|OXR1_ENST00000517566.2_Missense_Mutation_p.F570S|OXR1_ENST00000442977.2_Missense_Mutation_p.F571S	p.F570S	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		10	1970	+			571					A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Missense_Mutation	SNP	ENST00000442977.2	37	c.1709T>C	CCDS56548.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.861530	0.91433	.	.	ENSG00000164830	ENST00000445937;ENST00000531443;ENST00000517566;ENST00000452423;ENST00000442977;ENST00000312046	T;T;T;T;T;T	0.20598	2.48;2.48;2.39;2.06;2.39;2.49	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.50274	0.1606	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.53627	-0.8412	10	0.59425	D	0.04	-18.5575	16.2271	0.82306	0.0:0.0:0.0:1.0	.	563;571;570;570	Q8N573-2;Q8N573;D3HIS6;Q8N573-5	.;OXR1_HUMAN;.;.	S	570;570;570;60;571;563	ENSP00000402918:F570S;ENSP00000431966:F570S;ENSP00000429205:F570S;ENSP00000395032:F60S;ENSP00000405424:F571S;ENSP00000311026:F563S	ENSP00000311026:F563S	F	+	2	0	OXR1	107792110	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.982000	0.88131	2.234000	0.73211	0.460000	0.39030	TTT		0.378	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354		5	40	0	0	0	0.014758	0	5	40					C	107722934	T	C	107722934	3	2	196	1	0	0	0	0	1	0	0	0	11334	1841	64	3	1946	3	OXR1	8	107722934	Missense_Mutation	SNP	T	TCGA-EL-A3CR-01A-12D-A202-08	6890758	107722934	38641088	20	4082											
TRPS1	7227	broad.mit.edu	37	chr8	116599646	116599646	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagagtctggagttagcagaTtgtagaccctgaagtcaatt	11	6	2	4	rs376187822		TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr8:116599646T>C	ENST00000220888.5	-	4	2402	c.2243A>G	c.(2242-2244)aAt>aGt	p.N748S	TRPS1_ENST00000520276.1_Missense_Mutation_p.N752S|TRPS1_ENST00000519674.1_Missense_Mutation_p.N748S|TRPS1_ENST00000519076.1_Missense_Mutation_p.N502S|TRPS1_ENST00000395715.3_Missense_Mutation_p.N761S			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	748	Mediates interaction with GLI3.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AGTTAGCAGATTGTAGACCCT	0.498									Langer-Giedion syndrome																													ENST00000395715.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111						c.(2281-2283)aAt>aGt		trichorhinophalangeal syndrome I		T	SER/ASN	0,3902		0,0,1951	192	198	196		2282	5.0	1.0	8		196	2,8278		0,2,4138	no	missense	TRPS1	NM_014112.2	46	0,2,6089	CC,CT,TT		0.0242,0.0,0.0164	benign	761/1295	116599646	2,12180	1951	4140	6091	SO:0001583	missense	7227	Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116599646T>C	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"GATA zinc finger domain containing", "Zinc fingers, C2H2-type"	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2243A>G	8.37:g.116599646T>C	ENSP00000220888:p.Asn748Ser					TRPS1_ENST00000519674.1_Missense_Mutation_p.N748S|TRPS1_ENST00000220888.5_Missense_Mutation_p.N748S|TRPS1_ENST00000520276.1_Missense_Mutation_p.N752S|TRPS1_ENST00000519076.1_Missense_Mutation_p.N502S	p.N761S	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		5	2859	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		748			Mediates interaction with GLI3.		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.2282A>G		.	.	.	.	.	.	.	.	.	.	T	2.027	-0.423429	0.04734	0.0	2.42E-4	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	D;D;D;D;T	0.97752	-4.5;-4.48;-4.52;-4.48;1.26	5.86	4.98	0.66077	.	0.196398	0.56097	N	0.000032	D	0.89385	0.6700	N	0.02247	-0.625	0.34350	D	0.689771	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	D	0.85372	0.1114	10	0.02654	T	1	.	10.4328	0.44417	0.0:0.8498:0.0:0.1502	.	752;748;761	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	S	761;748;502;752;748	ENSP00000379065:N761S;ENSP00000220888:N748S;ENSP00000428910:N502S;ENSP00000428680:N752S;ENSP00000429174:N748S	ENSP00000220888:N748S	N	-	2	0	TRPS1	116668821	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	2.793000	0.47845	1.459000	0.47892	-0.242000	0.12053	AAT		0.498	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		8	162	0	0	0	0.047766	0	8	162					C	116599646	T	C	116599646	3	2	196	1	0	0	0	0	1	0	0	0	16590	1493	52	3	1614	3	TRPS1	8	116599646	Missense_Mutation	SNP	T	TCGA-EL-A3CR-01A-12D-A202-08	8876712	116599646	29764376	21	4083											
BAI1	575	broad.mit.edu	37	chr8	143623678	143623678	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcggcccaagcccaaggaGgagcccaagtacagcatcca	11	15	0	0			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr8:143623678G>A	ENST00000517894.1	+	28	4977	c.4083G>A	c.(4081-4083)gaG>gaA	p.E1361E	BAI1_ENST00000323289.5_Silent_p.E1361E			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1361					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					AGCCCAAGGAGGAGCCCAAGT	0.697																																						ENST00000517894.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(4081-4083)gaG>gaA		brain-specific angiogenesis inhibitor 1							26	36	33					8																	143623678		2096	4204	6300	SO:0001819	synonymous_variant	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143623678G>A	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"-", "GPCR / Class B : Orphans"	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.4083G>A	8.37:g.143623678G>A						BAI1_ENST00000323289.5_Silent_p.E1361E	p.E1361E			O14514	BAI1_HUMAN			28	4977	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		1361						Silent	SNP	ENST00000517894.1	37	c.4083G>A																																																																																					0.697	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		4	30	0	0	0	0.009096	0	4	30					A	143623678	G	A	143623678	2	1	196	1	0	0	0	0	0	0	0	1	1298	991	35	2		2	BAI1	8	143623678	Silent	SNP	G	TCGA-EL-A3CR-01A-12D-A202-08	27024032	143623678	2740344	22	4084											
MMRN2	79812	broad.mit.edu	37	chr10	88704974	88704974	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctgactggtccatcctgaGgttcctggtggctgtcacca	12	12	1	2			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr10:88704974G>T	ENST00000372027.5	-	4	773	c.452C>A	c.(451-453)cCt>cAt	p.P151H	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	151					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TCCATCCTGAGGTTCCTGGTG	0.562																																						ENST00000372027.4																			0				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						c.(451-453)cCt>cAt		multimerin 2							68	56	60					10																	88704974		2203	4300	6503	SO:0001583	missense	79812					extracellular space		g.chr10:88704974G>T	AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"EMI domain containing"	19888	protein-coding gene	gene with protein product		608925	"elastin microfibril interfacer 3"	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.452C>A	10.37:g.88704974G>T	ENSP00000361097:p.Pro151His						p.P151H	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN			4	525	-			151					Q504V7|Q6P2N2	Missense_Mutation	SNP	ENST00000372027.5	37	c.452C>A	CCDS7379.1	.	.	.	.	.	.	.	.	.	.	G	9.657	1.143185	0.21205	.	.	ENSG00000173269	ENST00000372027	T	0.15603	2.41	4.68	0.757	0.18427	.	1.249090	0.05393	N	0.539306	T	0.15478	0.0373	L	0.54323	1.7	0.09310	N	1	B;B	0.31581	0.063;0.329	B;B	0.25140	0.014;0.058	T	0.30387	-0.9980	10	0.54805	T	0.06	0.0062	3.4527	0.07505	0.283:0.0:0.5386:0.1784	.	90;151	B4E3H8;Q9H8L6	.;MMRN2_HUMAN	H	151	ENSP00000361097:P151H	ENSP00000361097:P151H	P	-	2	0	MMRN2	88694954	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	0.420000	0.21263	0.141000	0.18875	0.655000	0.94253	CCT		0.562	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756		4	34	1	0	3.59834e-05	0.021553	4.45508e-05	4	34					T	88704974	G	T	88704974	3	4	196	1	0	0	0	0	1	0	0	0	9671	1000	35	4	2413	4	MMRN2	10	88704974	Missense_Mutation	SNP	G	TCGA-EL-A3CR-01A-12D-A202-08		88704974	46829773	23	4085											
OR56A1	120796	broad.mit.edu	37	chr11	6048624	6048624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgaacatctggaggaagCaggcagggaagctgatcgac	15	7	1	3			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr11:6048624C>T	ENST00000316650.5	-	1	347	c.311G>A	c.(310-312)tGc>tAc	p.C104Y		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	104						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)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGAGGAAGCAGGCAGGGAA	0.552																																						ENST00000316650.5																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33						c.(310-312)tGc>tAc		olfactory receptor, family 56, subfamily A, member 1							109	95	100					11																	6048624		2201	4296	6497	SO:0001583	missense	120796				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6048624C>T	AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"GPCR / Class A : Olfactory receptors"	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.311G>A	11.37:g.6048624C>T	ENSP00000321246:p.Cys104Tyr						p.C104Y	NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	347	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	104					B2RNI2|Q6IFL0	Missense_Mutation	SNP	ENST00000316650.5	37	c.311G>A	CCDS31405.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.453029	0.26161	.	.	ENSG00000180934	ENST00000316650	T	0.00547	6.66	4.16	4.16	0.48862	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000265	T	0.03095	0.0091	H	0.98333	4.205	0.48696	D	0.999698	B	0.33528	0.416	P	0.44647	0.456	T	0.00067	-1.2142	10	0.87932	D	0	.	15.528	0.75928	0.0:1.0:0.0:0.0	.	104	Q8NGH5	O56A1_HUMAN	Y	104	ENSP00000321246:C104Y	ENSP00000321246:C104Y	C	-	2	0	OR56A1	6005200	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	5.529000	0.67135	2.303000	0.77524	0.655000	0.94253	TGC		0.552	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917		4	53	0	0	0	0.009096	0	4	53					T	6048624	C	T	6048624	3	4	196	1	0	0	0	0	1	0	0	0	11133	710	25	2	649	2	OR56A1	11	6048624	Missense_Mutation	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08		6048624	128957892	24	4086											
OR2D3	120775	broad.mit.edu	37	chr11	6942667	6942667	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgtggctgtctgcaagccCctgtactactctaccatcat	7	13	3	0			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr11:6942667C>T	ENST00000317834.3	+	1	463	c.435C>T	c.(433-435)ccC>ccT	p.P145P		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCTGCAAGCCCCTGTACTACT	0.512																																						ENST00000317834.3																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27						c.(433-435)ccC>ccT		olfactory receptor, family 2, subfamily D, member 3							149	133	138					11																	6942667		2201	4296	6497	SO:0001819	synonymous_variant	120775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6942667C>T	BK004294	CCDS31417.1	11p15.4	2012-08-09			ENSG00000178358	ENSG00000178358		"GPCR / Class A : Olfactory receptors"	15146	protein-coding gene	gene with protein product							Standard	NM_001004684		Approved		uc010rav.2	Q8NGH3	OTTHUMG00000165742	ENST00000317834.3:c.435C>T	11.37:g.6942667C>T							p.P145P	NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	463	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	145					B2RP06|Q6IFG8|Q96R51	Silent	SNP	ENST00000317834.3	37	c.435C>T	CCDS31417.1																																																																																				0.512	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385987.1	NM_001004684		17	80	0	0	0	0.038395	0	17	80					T	6942667	C	T	6942667	2	4	196	1	0	0	0	0	0	0	0	1	10995	610	22	2		2	OR2D3	11	6942667	Silent	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08	894043	6942667	128063849	25	4087											
DYNC2H1	79659	broad.mit.edu	37	chr11	102999693	102999693	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgattcaaagtcagaggccaAtgatgttacaatctgcctta	8	8	3	3			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr11:102999693A>G	ENST00000375735.2	+	13	2056	c.1912A>G	c.(1912-1914)Atg>Gtg	p.M638V	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.M638V|DYNC2H1_ENST00000334267.7_Missense_Mutation_p.M638V	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	638	Stem. {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)		TCAGAGGCCAATGATGTTACA	0.259																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(1912-1914)Atg>Gtg		dynein, cytoplasmic 2, heavy chain 1							57	58	58					11																	102999693		1802	4053	5855	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.chr11:102999693A>G	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.1912A>G	11.37:g.102999693A>G	ENSP00000364887:p.Met638Val					DYNC2H1_ENST00000334267.7_Missense_Mutation_p.M638V|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.M638V	p.M638V	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)	13	2056	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	638			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.1912A>G	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.096315	0.76870	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	T;T;T	0.54675	0.56;0.56;0.56	5.17	5.17	0.71159	Dynein heavy chain, domain-1 (1);	0.351400	0.24020	U	0.042287	T	0.72622	0.3483	M	0.83953	2.67	0.51012	D	0.999901	D;P;D	0.58268	0.982;0.925;0.964	D;P;P	0.68943	0.961;0.803;0.841	T	0.74368	-0.3688	10	0.41790	T	0.15	.	13.878	0.63665	1.0:0.0:0.0:0.0	.	638;638;638	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	V	638	ENSP00000364887:M638V;ENSP00000334021:M638V;ENSP00000381167:M638V	ENSP00000334021:M638V	M	+	1	0	DYNC2H1	102504903	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.838000	0.92115	2.087000	0.62958	0.533000	0.62120	ATG		0.259	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		3	35	0	0	0	0.115264	0	3	35					G	102999693	A	G	102999693	3	3	196	1	0	0	0	0	1	0	0	0	4846	101	4	3	1962	3	DYNC2H1	11	102999693	Missense_Mutation	SNP	A	TCGA-EL-A3CR-01A-12D-A202-08	96057026	102999693	32006823	26	4088											
SLC38A4	55089	broad.mit.edu	37	chr12	47172402	47172402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccagccctgcaggattgCggtgggtgtaatccatcatg	12	11	1	0	rs189669525	byFrequency	TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr12:47172402C>T	ENST00000447411.1	-	10	1081	c.875G>A	c.(874-876)cGc>cAc	p.R292H	SLC38A4_ENST00000266579.4_Missense_Mutation_p.R292H	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	292					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)	p.R292H(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					TGCAGGATTGCGGTGGGTGTA	0.458																																						ENST00000447411.1																			1	Substitution - Missense(1)	p.R292H(1)	endometrium(1)	NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21						c.(874-876)cGc>cAc		solute carrier family 38, member 4							116	104	108					12																	47172402		2203	4299	6502	SO:0001583	missense	55089				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:47172402C>T	AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"Solute carriers"	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.875G>A	12.37:g.47172402C>T	ENSP00000389843:p.Arg292His					SLC38A4_ENST00000266579.4_Missense_Mutation_p.R292H	p.R292H	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN			10	1081	-	Lung SC(27;0.192)|Renal(347;0.236)		292					A8K553	Missense_Mutation	SNP	ENST00000447411.1	37	c.875G>A	CCDS8750.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.649611	0.29336	.	.	ENSG00000139209	ENST00000447411;ENST00000266579	T;T	0.04119	3.7;3.7	4.91	-1.52	0.08637	.	0.991659	0.08198	N	0.982792	T	0.02848	0.0085	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46925	-0.9156	10	0.32370	T	0.25	0.0169	10.3171	0.43743	0.0:0.4305:0.0:0.5695	.	292	Q969I6	S38A4_HUMAN	H	292	ENSP00000389843:R292H;ENSP00000266579:R292H	ENSP00000266579:R292H	R	-	2	0	SLC38A4	45458669	0.000000	0.05858	0.002000	0.10522	0.942000	0.58702	-0.503000	0.06383	-0.352000	0.08237	0.484000	0.47621	CGC		0.458	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404574.1			7	72	0	0	0	0.02938	0	7	72					T	47172402	C	T	47172402	3	4	196	1	0	0	0	0	1	0	0	0	14606	768	27	1	796	1	SLC38A4	12	47172402	Missense_Mutation	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08		47172402	86679493	27	4089											
CPSF6	11052	broad.mit.edu	37	chr12	69651614	69651614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaggacggggccgttttcCaggggctgttcctggtgggg	19	8	0	1			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr12:69651614C>T	ENST00000435070.2	+	5	733	c.623C>T	c.(622-624)cCa>cTa	p.P208L	CPSF6_ENST00000266679.8_Missense_Mutation_p.P208L|CPSF6_ENST00000456847.3_Intron|CPSF6_ENST00000551516.1_Intron	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	208	Pro-rich.				mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			GGCCGTTTTCCAGGGGCTGTT	0.542																																						ENST00000435070.2																			0				endometrium(1)|large_intestine(7)|lung(8)	16						c.(622-624)cCa>cTa		cleavage and polyadenylation specific factor 6, 68kDa							96	99	98					12																	69651614		2203	4300	6503	SO:0001583	missense	11052				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	g.chr12:69651614C>T	X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"RNA binding motif (RRM) containing"	13871	protein-coding gene	gene with protein product	"cleavage factor Im complex 68 kDa subunit"	604979	"cleavage and polyadenylation specific factor 6, 68kD subunit"			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.623C>T	12.37:g.69651614C>T	ENSP00000391774:p.Pro208Leu					CPSF6_ENST00000456847.3_Intron|CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Missense_Mutation_p.P208L	p.P208L	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)		5	733	+	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		208			Pro-rich.		A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	ENST00000435070.2	37	c.623C>T	CCDS8988.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387625	0.61956	.	.	ENSG00000111605	ENST00000435070;ENST00000266679	.	.	.	5.51	5.51	0.81932	.	0.046292	0.85682	D	0.000000	T	0.77350	0.4117	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.74565	-0.3623	8	.	.	.	-5.7434	19.8051	0.96529	0.0:1.0:0.0:0.0	.	208;208	Q16630-2;Q16630	.;CPSF6_HUMAN	L	208	.	.	P	+	2	0	CPSF6	67937881	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.578000	0.82498	2.763000	0.94921	0.563000	0.77884	CCA		0.542	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1	NM_007007		14	101	0	0	0	0.11911	0	14	101					T	69651614	C	T	69651614	3	4	196	1	0	0	0	0	1	0	0	0	3829	594	21	2	641	2	CPSF6	12	69651614	Missense_Mutation	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08	22479212	69651614	64200281	28	4090											
HMGB1	3146	broad.mit.edu	37	chr13	31037690	31037690	+	Frame_Shift_Del	DEL	T	T	-													tccacctctctgagcacttcTtagaaaactctgagaagttg							TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr13:31037690delT	ENST00000405805.1	-	2	1068	c.128delA	c.(127-129)aagfs	p.K44fs	HMGB1_ENST00000339872.4_Frame_Shift_Del_p.K44fs|HMGB1_ENST00000341423.5_Frame_Shift_Del_p.K44fs|HMGB1_ENST00000326004.4_Frame_Shift_Del_p.K44fs|HMGB1_ENST00000399494.1_Frame_Shift_Del_p.K44fs|HMGB1_ENST00000468384.1_5'UTR|HMGB1_ENST00000399489.1_Frame_Shift_Del_p.K44fs			P09429	HMGB1_HUMAN	high mobility group box 1	44					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dendritic cell chemotaxis (GO:0002407)|DNA ligation involved in DNA repair (GO:0051103)|DNA recombination (GO:0006310)|DNA topological change (GO:0006265)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|myeloid dendritic cell activation (GO:0001773)|negative regulation of apoptotic cell clearance (GO:2000426)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron projection development (GO:0031175)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|V(D)J recombination (GO:0033151)	cell surface (GO:0009986)|condensed chromosome (GO:0000793)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|damaged DNA binding (GO:0003684)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		TGAGCACTTCTTAGAAAACTC	0.403																																						ENST00000405805.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8						c.(127-129)agfs		high mobility group box 1							139	145	143					13																	31037690		2203	4300	6503	SO:0001589	frameshift_variant	3146				base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm	chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr13:31037690delT	D63874	CCDS9335.1	13q12	2011-07-01	2011-04-05	2002-08-16	ENSG00000189403	ENSG00000189403		"High-mobility group / Canonical"	4983	protein-coding gene	gene with protein product	"high mobility group box 1", "Sulfoglucuronyl carbohydrate binding protein", "Amphoterin", "high mobility group protein 1"	163905	"high-mobility group (nonhistone chromosomal) protein 1", "high-mobility group box 1"	HMG1		8661151, 11279268	Standard	NM_002128		Approved	HMG3, SBP-1, DKFZp686A04236	uc001usx.3	P09429	OTTHUMG00000016670	ENST00000405805.1:c.128delA	13.37:g.31037690delT	ENSP00000384678:p.Lys44fs					HMGB1_ENST00000399494.1_Frame_Shift_Del_p.K44fs|HMGB1_ENST00000399489.1_Frame_Shift_Del_p.K44fs|HMGB1_ENST00000468384.1_5'UTR|HMGB1_ENST00000339872.4_Frame_Shift_Del_p.K44fs|HMGB1_ENST00000341423.5_Frame_Shift_Del_p.K44fs|HMGB1_ENST00000326004.4_Frame_Shift_Del_p.K44fs	p.K44fs			P09429	HMGB1_HUMAN		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)	2	1068	-		Lung SC(185;0.0257)	44					A5D8W9|Q14321|Q5T7C3|Q6IBE1	Frame_Shift_Del	DEL	ENST00000405805.1	37	c.128delA	CCDS9335.1																																																																																				0.403	HMGB1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303998.2	NM_002128		12	116						12	116	---	---	---	---	-	31037690	T	-	31037690	7	5	196	1	0	1	0	1	0	0	0	0	7225	1609	56	0	535	0	HMGB1	13	31037690	Frame_Shift_Del	DEL	T	TCGA-EL-A3CR-01A-12D-A202-08		31037690	84132188	29	4091											
MTMR15	22909	broad.mit.edu	37	chr15	31202968	31202968	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttggccaaacagcgttcagtCtgcacttggggcaagaataa	11	9	2	1			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr15:31202968C>T	ENST00000362065.4	+	4	1818	c.1527C>T	c.(1525-1527)gtC>gtT	p.V509V	FAN1_ENST00000561607.1_Silent_p.V509V|FAN1_ENST00000565466.1_Silent_p.V509V|FAN1_ENST00000561594.1_Silent_p.V509V	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	509					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						AGCGTTCAGTCTGCACTTGGG	0.418								Direct reversal of damage																														ENST00000362065.4																			0				autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						c.(1525-1527)gtC>gtT	Direct reversal of damage	FANCD2/FANCI-associated nuclease 1							91	87	89					15																	31202968		2202	4300	6502	SO:0001819	synonymous_variant	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31202968C>T		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"KIAA1018", "myotubularin related protein 15"	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.1527C>T	15.37:g.31202968C>T						FAN1_ENST00000561607.1_Silent_p.V509V|FAN1_ENST00000565466.1_Silent_p.V509V|FAN1_ENST00000561594.1_Silent_p.V509V	p.V509V	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN			4	1818	+			509					A8K4M2|Q86WU8	Silent	SNP	ENST00000362065.4	37	c.1527C>T	CCDS32186.1																																																																																				0.418	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		9	32	0	0	0	0.047766	0	9	32					T	31202968	C	T	31202968	2	4	196	1	0	0	0	0	0	0	0	1	9943	900	32	2		2	MTMR15	15	31202968	Silent	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08		31202968	71328424	30	4092											
CHRM5	1133	broad.mit.edu	37	chr15	34355791	34355791	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaagccactggcccaagCgccaattgggccaaagctga	10	15	0	1			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr15:34355791C>T	ENST00000383263.5	+	3	1543	c.873C>T	c.(871-873)agC>agT	p.S291S	CHRM5_ENST00000557872.1_Silent_p.S291S	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	291					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CTGGCCCAAGCGCCAATTGGG	0.632																																						ENST00000383263.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20						c.(871-873)agC>agT		cholinergic receptor, muscarinic 5	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)						55	57	56					15																	34355791		2201	4298	6499	SO:0001819	synonymous_variant	0				cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr15:34355791C>T		CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1954	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 5"	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.873C>T	15.37:g.34355791C>T						CHRM5_ENST00000557872.1_Silent_p.S291S	p.S291S	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	3	1543	+		all_lung(180;1.76e-08)	291					Q96RG7	Silent	SNP	ENST00000383263.5	37	c.873C>T	CCDS10031.1																																																																																				0.632	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2			6	65	0	0	0	0.02938	0	6	65					T	34355791	C	T	34355791	2	4	196	1	0	0	0	0	0	0	0	1	3380	767	27	1		1	CHRM5	15	34355791	Silent	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08	3152823	34355791	68175601	31	4093											
DNAJC17	55192	broad.mit.edu	37	chr15	41071505	41071505	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttcctgaccttgtcatatgCagcctggcaggagaaagggg	13	9	1	2	rs376973487		TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr15:41071505C>A	ENST00000220496.4	-	4	241	c.211G>T	c.(211-213)Gca>Tca	p.A71S		NM_018163.2	NP_060633.1	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	71	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		TTGTCATATGCAGCCTGGCAG	0.542																																						ENST00000220496.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6						c.(211-213)Gca>Tca		DnaJ (Hsp40) homolog, subfamily C, member 17							151	124	133					15																	41071505		2203	4300	6503	SO:0001583	missense	55192				protein folding		heat shock protein binding|nucleotide binding|RNA binding|unfolded protein binding	g.chr15:41071505C>A	AK001496	CCDS10065.1	15q15.1	2014-02-12			ENSG00000104129	ENSG00000104129		"Heat shock proteins / DNAJ (HSP40)", "RNA binding motif (RRM) containing"	25556	protein-coding gene	gene with protein product						12477932	Standard	NM_018163		Approved	FLJ10634	uc001zms.2	Q9NVM6	OTTHUMG00000130065	ENST00000220496.4:c.211G>T	15.37:g.41071505C>A	ENSP00000220496:p.Ala71Ser						p.A71S	NM_018163.2	NP_060633.1	Q9NVM6	DJC17_HUMAN		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	4	241	-		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)	71			J.			Missense_Mutation	SNP	ENST00000220496.4	37	c.211G>T	CCDS10065.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.525185	0.85600	.	.	ENSG00000104129	ENST00000220496	T	0.29655	1.56	5.52	5.52	0.82312	Heat shock protein DnaJ, N-terminal (4);	0.000000	0.85682	D	0.000000	T	0.46870	0.1415	L	0.48642	1.525	0.80722	D	1	P	0.35894	0.526	P	0.53185	0.72	T	0.26985	-1.0087	10	0.42905	T	0.14	.	17.2117	0.86932	0.0:1.0:0.0:0.0	.	71	Q9NVM6	DJC17_HUMAN	S	71	ENSP00000220496:A71S	ENSP00000220496:A71S	A	-	1	0	DNAJC17	38858797	1.000000	0.71417	0.993000	0.49108	0.938000	0.57974	5.805000	0.69143	2.603000	0.88011	0.650000	0.86243	GCA		0.542	DNAJC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252356.2	NM_018163		7	60	1	0	0.00307968	0.038147	0.00372426	7	60					A	41071505	C	A	41071505	3	1	196	1	0	0	0	0	1	0	0	0	4636	710	25	4	735	4	DNAJC17	15	41071505	Missense_Mutation	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08	6715714	41071505	61459887	32	4094											
TBC1D2B	23102	broad.mit.edu	37	chr15	78316614	78316614	+	Frame_Shift_Del	DEL	C	C	-													gctgagcttgatgatgacctCgtccttggcttggatggtct							TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr15:78316614delC	ENST00000300584.3	-	6	1353	c.1354delG	c.(1354-1356)gagfs	p.E452fs	TBC1D2B_ENST00000409931.3_Frame_Shift_Del_p.E452fs	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	452							Rab GTPase activator activity (GO:0005097)	p.E452K(1)		breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						ATGATGACCTCGTCCTTGGCT	0.612																																						ENST00000409931.3																			1	Substitution - Missense(1)	p.E452K(1)	large_intestine(1)	breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						c.(1354-1356)agfs		TBC1 domain family, member 2B							98	75	83					15																	78316614		2196	4293	6489	SO:0001589	frameshift_variant	23102					intracellular	protein binding|Rab GTPase activator activity	g.chr15:78316614delC	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.1354delG	15.37:g.78316614delC	ENSP00000300584:p.Glu452fs					TBC1D2B_ENST00000300584.3_Frame_Shift_Del_p.E452fs	p.E452fs			Q9UPU7	TBD2B_HUMAN			6	1425	-			452					A7MD42|Q8N1F9|Q9NXM0	Frame_Shift_Del	DEL	ENST00000300584.3	37	c.1354delG	CCDS45314.1																																																																																				0.612	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079		7	49						7	49	---	---	---	---	-	78316614	C	-	78316614	7	5	196	1	0	1	0	1	0	0	0	0	15616	893	31	0	1569	0	TBC1D2B	15	78316614	Frame_Shift_Del	DEL	C	TCGA-EL-A3CR-01A-12D-A202-08	37245109	78316614	24214778	33	4095											
IGF1R	3480	broad.mit.edu	37	chr15	99467892	99467894	+	In_Frame_Del	DEL	TTC	TTC	-													ggtcgtggacagatcctgtgTtcttctatgtccaggccaaa							TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr15:99467892_99467894delTTC	ENST00000268035.6	+	13	3372_3374	c.2761_2763delTTC	c.(2761-2763)ttcdel	p.F922del	IGF1R_ENST00000558762.1_In_Frame_Del_p.F922del	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	922	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	AGATCCTGTGTTCTTCTATGTCC	0.542																																						ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(2761-2763)del		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)																																			SO:0001651	inframe_deletion	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99467892_99467894delTTC	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.2761_2763delTTC	15.37:g.99467895_99467897delTTC	ENSP00000268035:p.Phe922del					IGF1R_ENST00000558762.1_In_Frame_Del_p.F922del	p.F922del	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		13	3372_3374	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		922			Fibronectin type-III 3.		B1B5Y2|Q14CV2|Q9UCC0	In_Frame_Del	DEL	ENST00000268035.6	37	c.2761_2763delTTC	CCDS10378.1																																																																																				0.542	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		10	49						10	49	---	---	---	---	-	99467894	TTC	-	99467892	7	5	196	1	0	1	0	1	0	0	0	0	7571	1725	60	0	2811	0	IGF1R	15	99467892	In_Frame_Del	DEL	TTC	TCGA-EL-A3CR-01A-12D-A202-08	21151278	99467892	3063500	34	4096											
PCSK6	5046	broad.mit.edu	37	chr15	101972253	101972253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaagggcctgcgggtcacttCgcacctgtctcttcaccctt	9	15	3	0			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr15:101972253C>T	ENST00000348070.1	-	4	451	c.452G>A	c.(451-453)cGa>cAa	p.R151Q	PCSK6_ENST00000358417.3_Missense_Mutation_p.R151Q|PCSK6_ENST00000398181.2_Missense_Mutation_p.R151Q|PCSK6_ENST00000331826.7_5'Flank|PCSK6_ENST00000344273.2_Missense_Mutation_p.R151Q|PCSK6_ENST00000561177.1_5'UTR	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	152					determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)	p.R151Q(2)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CGGGTCACTTCGCACCTGTCT	0.483																																						ENST00000348070.1																			2	Substitution - Missense(2)	p.R151Q(2)	large_intestine(2)	breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(451-453)cGa>cAa		proprotein convertase subtilisin/kexin type 6							97	114	109					15																	101972253		1943	4128	6071	SO:0001583	missense	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101972253C>T		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"subtilisin-like protease", "subtilisin-like proprotein convertase 4", "subtilisin/kexin-like protease PACE4"	167405	"paired basic amino acid cleaving system 4"	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.452G>A	15.37:g.101972253C>T	ENSP00000305056:p.Arg151Gln					PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000398181.2_Missense_Mutation_p.R151Q|PCSK6_ENST00000358417.3_Missense_Mutation_p.R151Q|PCSK6_ENST00000344273.2_Missense_Mutation_p.R151Q	p.R151Q	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		4	451	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		152			Catalytic.		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	ENST00000348070.1	37	c.452G>A		.	.	.	.	.	.	.	.	.	.	C	14.18	2.457088	0.43634	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185;ENST00000344273;ENST00000398181	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.64	3.71	0.42584	.	0.391386	0.23508	N	0.047431	T	0.30759	0.0775	L	0.37561	1.115	0.26164	N	0.979957	B;B;B;B;B;B;B;B;B	0.26363	0.014;0.008;0.013;0.147;0.051;0.091;0.043;0.068;0.024	B;B;B;B;B;B;B;B;B	0.18263	0.002;0.002;0.011;0.021;0.004;0.009;0.008;0.013;0.004	T	0.16808	-1.0390	10	0.38643	T	0.18	-11.3901	10.7966	0.46464	0.0:0.7979:0.1303:0.0719	.	152;57;151;152;151;151;152;152;151	P29122;Q59H04;E7EUC8;P29122-4;E7EWH5;E7EQ62;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.;.;.;.;.	Q	151;151;56;151;151	ENSP00000305056:R151Q;ENSP00000351193:R151Q;ENSP00000344410:R151Q;ENSP00000381243:R151Q	ENSP00000344410:R151Q	R	-	2	0	PCSK6	99789776	0.968000	0.33430	0.828000	0.32881	0.962000	0.63368	2.360000	0.44151	1.355000	0.45865	0.555000	0.69702	CGA		0.483	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570		3	14	0	0	0	0.115264	0	3	14					T	101972253	C	T	101972253	3	4	196	1	0	0	0	0	1	0	0	0	11604	884	31	1	3013	1	PCSK6	15	101972253	Missense_Mutation	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08	2504361	101972253	559139	35	4097											
KRTAP4-12	83755	broad.mit.edu	37	chr17	39280056	39280056	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggtcctgcagcaggtggtctGacagcagctggggcggcagc	18	11	1	1			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr17:39280056G>C	ENST00000394014.1	-	1	363	c.319C>G	c.(319-321)Cag>Gag	p.Q107E		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	107	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].		Missing (in allele KAP4.12-v1). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGGTGGTCTGACAGCAGCTG	0.677																																						ENST00000394014.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(319-321)Cag>Gag		keratin associated protein 4-12							41	49	46					17																	39280056		2190	4282	6472	SO:0001583	missense	83755					keratin filament		g.chr17:39280056G>C	AJ406943	CCDS32649.1	17q21.2	2013-06-25			ENSG00000213416	ENSG00000213416		"Keratin associated proteins"	16776	protein-coding gene	gene with protein product						11279113	Standard	NM_031854		Approved	KAP4.12	uc002hwa.3	Q9BQ66	OTTHUMG00000133632	ENST00000394014.1:c.319C>G	17.37:g.39280056G>C	ENSP00000377582:p.Gln107Glu						p.Q107E	NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	363	-		Breast(137;0.000496)	107		Missing (in allele KAP4.12-v1).	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].		A3KMC5|Q495I0	Missense_Mutation	SNP	ENST00000394014.1	37	c.319C>G	CCDS32649.1	.	.	.	.	.	.	.	.	.	.	.	2.648	-0.282677	0.05642	.	.	ENSG00000213416	ENST00000394014	T	0.00583	6.41	3.97	-6.51	0.01878	.	.	.	.	.	T	0.00440	0.0014	L	0.56280	1.765	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.51395	-0.8711	9	0.02654	T	1	.	2.4906	0.04609	0.0998:0.3039:0.1585:0.4379	.	107	Q9BQ66	KR412_HUMAN	E	107	ENSP00000377582:Q107E	ENSP00000377582:Q107E	Q	-	1	0	KRTAP4-12	36533582	0.000000	0.05858	0.029000	0.17559	0.409000	0.31022	-0.019000	0.12546	-0.452000	0.07087	0.458000	0.33432	CAG		0.677	KRTAP4-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257777.1			9	71	0	0	0	0.047766	0	9	71					C	39280056	G	C	39280056	3	2	196	1	0	0	0	0	1	0	0	0	8550	1299	45	4	290	4	KRTAP4-12	17	39280056	Missense_Mutation	SNP	G	TCGA-EL-A3CR-01A-12D-A202-08		39280056	41915154	36	4098											
CIDEA	1149	broad.mit.edu	37	chr18	12274153	12274153	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggaatagcgagagtcacctTcgacttgtacaggctgaacc	12	10	1	2			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr18:12274153T>A	ENST00000320477.9	+	4	457	c.392T>A	c.(391-393)tTc>tAc	p.F131Y	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	131					apoptotic process (GO:0006915)|cell death (GO:0008219)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|response to stilbenoid (GO:0035634)|temperature homeostasis (GO:0001659)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|mitochondrial envelope (GO:0005740)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						AGAGTCACCTTCGACTTGTAC	0.597																																						ENST00000320477.9																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						c.(391-393)tTc>tAc		cell death-inducing DFFA-like effector a							153	120	131					18																	12274153		2203	4300	6503	SO:0001583	missense	1149				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity	g.chr18:12274153T>A	AF041378	CCDS11856.1	18p11.21	2008-08-01			ENSG00000176194	ENSG00000176194			1976	protein-coding gene	gene with protein product		604440				9564035, 18509062	Standard	NM_001279		Approved	CIDE-A	uc002kqt.4	O60543	OTTHUMG00000131691	ENST00000320477.9:c.392T>A	18.37:g.12274153T>A	ENSP00000320209:p.Phe131Tyr					CIDEA_ENST00000521296.1_3'UTR	p.F131Y	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN			4	457	+			131					B0YIY7|Q6UPR7	Missense_Mutation	SNP	ENST00000320477.9	37	c.392T>A	CCDS11856.1	.	.	.	.	.	.	.	.	.	.	T	18.92	3.725212	0.68959	.	.	ENSG00000176194	ENST00000320477	D	0.83163	-1.69	5.31	5.31	0.75309	.	0.060018	0.64402	D	0.000003	D	0.90686	0.7078	M	0.86268	2.805	0.58432	D	0.999992	D;D	0.71674	0.998;0.976	P;P	0.61328	0.887;0.686	D	0.92218	0.5782	10	0.72032	D	0.01	-26.774	14.936	0.70954	0.0:0.0:0.0:1.0	.	165;131	Q8N5P9;O60543	.;CIDEA_HUMAN	Y	131	ENSP00000320209:F131Y	ENSP00000320209:F131Y	F	+	2	0	CIDEA	12264153	1.000000	0.71417	0.994000	0.49952	0.025000	0.11179	7.028000	0.76470	2.022000	0.59522	0.533000	0.62120	TTC		0.597	CIDEA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254599.2	NM_001279		11	65	0	0	0	0.080935	0	11	65					A	12274153	T	A	12274153	3	1	196	1	0	0	0	0	1	0	0	0	3425	1783	62	5	550	5	CIDEA	18	12274153	Missense_Mutation	SNP	T	TCGA-EL-A3CR-01A-12D-A202-08		12274153	65803095	37	4099											
SIX5	147912	broad.mit.edu	37	chr19	46270388	46270388	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acttcggctggactcgtcctCagtcgtgggattcccatcag	11	13	2	0			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr19:46270388C>G	ENST00000317578.6	-	2	1210	c.829G>C	c.(829-831)Gag>Cag	p.E277Q	SIX5_ENST00000560168.1_3'UTR|AC074212.6_ENST00000590076.1_RNA|AC074212.5_ENST00000592217.2_RNA|AC074212.5_ENST00000559756.1_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	277					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)	p.E277Q(1)		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)		GACTCGTCCTCAGTCGTGGGA	0.677																																						ENST00000317578.6																			1	Substitution - Missense(1)	p.E277Q(1)	lung(1)	endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(829-831)Gag>Cag		SIX homeobox 5							17	19	18					19																	46270388		2189	4264	6453	SO:0001583	missense	147912					cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:46270388C>G	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.829G>C	19.37:g.46270388C>G	ENSP00000316842:p.Glu277Gln					SIX5_ENST00000560168.1_3'UTR|AC074212.5_ENST00000559756.1_RNA	p.E277Q	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)	2	1210	-		Ovarian(192;0.0308)|all_neural(266;0.112)	277						Missense_Mutation	SNP	ENST00000317578.6	37	c.829G>C	CCDS12673.1	.	.	.	.	.	.	.	.	.	.	c	27.3	4.823253	0.90873	.	.	ENSG00000177045	ENST00000317578	D	0.91124	-2.79	4.83	4.83	0.62350	.	0.797746	0.11174	N	0.591627	D	0.92795	0.7709	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.91123	0.4931	10	0.56958	D	0.05	-16.4711	15.3923	0.74755	0.0:1.0:0.0:0.0	.	277	Q8N196	SIX5_HUMAN	Q	277	ENSP00000316842:E277Q	ENSP00000316842:E277Q	E	-	1	0	SIX5	50962228	1.000000	0.71417	0.764000	0.31436	0.897000	0.52465	7.286000	0.78671	2.211000	0.71520	0.561000	0.74099	GAG		0.677	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417341.3	NM_175875		5	8	0	0	0	0.021553	0	5	8					G	46270388	C	G	46270388	3	3	196	1	0	0	0	0	1	0	0	0	14350	835	29	4	1398	4	SIX5	19	46270388	Missense_Mutation	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08		46270388	12858595	38	4100											
HAS1	3036	broad.mit.edu	37	chr19	52217155	52217155	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggcccgcgtagaacagaCgcagcacagtggccgccacg	15	15	0	2			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr19:52217155C>T	ENST00000222115.1	-	5	1296	c.1262G>A	c.(1261-1263)cGt>cAt	p.R421H	HAS1_ENST00000540069.2_Missense_Mutation_p.R420H|HAS1_ENST00000601714.1_Missense_Mutation_p.R428H|HAS1_ENST00000594621.1_3'UTR	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	421					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GTAGAACAGACGCAGCACAGT	0.701																																					NSCLC(132;636 2450 45807 47979)	ENST00000540069.2																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40						c.(1258-1260)cGt>cAt		hyaluronan synthase 1							37	35	36					19																	52217155		2197	4299	6496	SO:0001583	missense	3036				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding	g.chr19:52217155C>T	U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.1262G>A	19.37:g.52217155C>T	ENSP00000222115:p.Arg421His					HAS1_ENST00000594621.1_3'UTR|HAS1_ENST00000601714.1_Missense_Mutation_p.R428H|HAS1_ENST00000222115.1_Missense_Mutation_p.R421H	p.R420H			Q92839	HAS1_HUMAN		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	5	1319	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	421					Q14470|Q9NS49	Missense_Mutation	SNP	ENST00000222115.1	37	c.1259G>A	CCDS12838.1	.	.	.	.	.	.	.	.	.	.	c	8.231	0.804615	0.16467	.	.	ENSG00000105509	ENST00000540069;ENST00000222115	T;T	0.59502	0.26;0.26	3.19	3.19	0.36642	.	0.233762	0.36002	U	0.002847	T	0.41834	0.1176	L	0.29908	0.895	0.35158	D	0.770415	B;B;B	0.27656	0.147;0.184;0.184	B;B;B	0.24269	0.052;0.023;0.023	T	0.50625	-0.8806	10	0.22706	T	0.39	-22.0425	12.2755	0.54733	0.0:1.0:0.0:0.0	.	420;421;420	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	H	420;421	ENSP00000445021:R420H;ENSP00000222115:R421H	ENSP00000222115:R421H	R	-	2	0	HAS1	56908967	1.000000	0.71417	1.000000	0.80357	0.240000	0.25518	1.662000	0.37418	1.812000	0.52913	0.165000	0.16767	CGT		0.701	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523		13	15	0	0	0	0.11911	0	13	15					T	52217155	C	T	52217155	3	4	196	1	0	0	0	0	1	0	0	0	6961	536	19	1	478	1	HAS1	19	52217155	Missense_Mutation	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08	5946767	52217155	6911828	39	4101											
C20orf160	140706	broad.mit.edu	37	chr20	30602787	30602787	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagcagcgtgagccgccgGcccctgcactcgatgcccct	13	17	0	1			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr20:30602787G>A	ENST00000300415.8	+	2	124	c.111G>A	c.(109-111)cgG>cgA	p.R37R	CCM2L_ENST00000262659.8_Silent_p.R37R			Q9NUG4	CCM2L_HUMAN	cerebral cavernous malformation 2-like	37																	TGAGCCGCCGGCCCCTGCACT	0.632																																						ENST00000300415.8																			0											c.(109-111)cgG>cgA		cerebral cavernous malformation 2-like							74	73	73					20																	30602787		2203	4300	6503	SO:0001819	synonymous_variant	140706							g.chr20:30602787G>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.111G>A	20.37:g.30602787G>A						CCM2L_ENST00000262659.8_Silent_p.R37R	p.R37R							2	124	+								Q5JYR9|Q8N5F1|Q8N6G8|Q96MD5	Silent	SNP	ENST00000300415.8	37	c.111G>A																																																																																					0.632	CCM2L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_080625		5	80	0	0	0	0.021553	0	5	80					A	30602787	G	A	30602787	2	1	196	1	0	0	0	0	0	0	0	1	2093	1190	42	2		2	C20orf160	20	30602787	Silent	SNP	G	TCGA-EL-A3CR-01A-12D-A202-08		30602787	32422733	40	4102											
RNF2	6045	broad.mit.edu	37	chr1	185062373	185062373	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcaagcactcagtcacagCattgaggaaggactgaagat	11	9	2	3			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr1:185062373C>A	ENST00000367510.3	+	4	717	c.429C>A	c.(427-429)agC>agA	p.S143R	RNF2_ENST00000367509.4_Intron	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	143	Interaction with HIP2.				anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		TCAGTCACAGCATTGAGGAAG	0.393																																						ENST00000367510.3																			0				breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14						c.(427-429)agC>agA		ring finger protein 2							76	71	73					1																	185062373		2203	4300	6503	SO:0001583	missense	6045				histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding	g.chr1:185062373C>A	BC012583, Y10571	CCDS1365.1	1q25.3	2013-01-09			ENSG00000121481	ENSG00000121481		"RING-type (C3HC4) zinc fingers"	10061	protein-coding gene	gene with protein product		608985				11513855	Standard	XM_005245413		Approved	BAP-1, BAP1, DING, HIPI3, RING1B, RING2	uc001grc.1	Q99496	OTTHUMG00000035391	ENST00000367510.3:c.429C>A	1.37:g.185062373C>A	ENSP00000356480:p.Ser143Arg					RNF2_ENST00000367509.4_Intron	p.S143R	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)	4	717	+		Breast(1374;0.000496)	143			Interaction with HIP2.		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000367510.3	37	c.429C>A	CCDS1365.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918012	0.73098	.	.	ENSG00000121481	ENST00000367510;ENST00000453650	T;T	0.21543	2.0;2.0	5.19	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.41305	0.1153	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.10132	-1.0643	10	0.39692	T	0.17	-8.7748	9.8539	0.41073	0.0:0.8465:0.0:0.1535	.	143	Q99496	RING2_HUMAN	R	143	ENSP00000356480:S143R;ENSP00000400722:S143R	ENSP00000356480:S143R	S	+	3	2	RNF2	183328996	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.067000	0.30616	2.551000	0.86045	0.650000	0.86243	AGC		0.393	RNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085793.1	NM_007212		3	49	1	0	0.115264	1	0.115264	3	49					A	185062373	C	A	185062373	3	1	197	1	0	0	0	0	1	0	0	0	13472	709	25	4	439	4	RNF2	1	185062373	Missense_Mutation	SNP	C	TCGA-EL-A3CS-01A-21D-A19J-08		185062373	64188248	1	4103											
NUP133	55746	broad.mit.edu	37	chr1	229623237	229623237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcattaaagacaattttctCctggggaagagaaaatttcc	8	7	1	2			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr1:229623237C>T	ENST00000261396.3	-	10	1409	c.1318G>A	c.(1318-1320)Gag>Aag	p.E440K	NUP133_ENST00000537506.1_Missense_Mutation_p.E424K	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	440					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 export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				ACAATTTTCTCCTGGGGAAGA	0.413																																						ENST00000261396.3																			0				NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56						c.(1318-1320)Gag>Aag		nucleoporin 133kDa							102	104	103					1																	229623237		2203	4300	6503	SO:0001583	missense	55746				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr1:229623237C>T		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"nucleoporin 133kD"			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.1318G>A	1.37:g.229623237C>T	ENSP00000261396:p.Glu440Lys					NUP133_ENST00000537506.1_Missense_Mutation_p.E424K|NUP133_ENST00000366679.1_Missense_Mutation_p.E440K	p.E440K	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN			10	1409	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	440					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	ENST00000261396.3	37	c.1318G>A	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	C	33	5.239214	0.95240	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.61859	0.07;0.07;0.07	5.07	5.07	0.68467	WD40/YVTN repeat-like-containing domain (1);Nucleoporin, Nup133/Nup155-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67505	0.2900	M	0.73962	2.25	0.80722	D	1	D	0.53312	0.959	P	0.49085	0.6	T	0.70630	-0.4819	10	0.45353	T	0.12	-12.7626	18.8123	0.92063	0.0:1.0:0.0:0.0	.	440	Q8WUM0	NU133_HUMAN	K	440;440;440;424	ENSP00000261396:E440K;ENSP00000355640:E440K;ENSP00000443496:E424K	ENSP00000261396:E440K	E	-	1	0	NUP133	227689860	1.000000	0.71417	0.984000	0.44739	0.934000	0.57294	6.724000	0.74747	2.526000	0.85167	0.585000	0.79938	GAG		0.413	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		36	50	0	0	0	1	0	36	50					T	229623237	C	T	229623237	3	4	197	1	0	0	0	0	1	0	0	0	10754	864	30	2	2220	2	NUP133	1	229623237	Missense_Mutation	SNP	C	TCGA-EL-A3CS-01A-21D-A19J-08	44560864	229623237	19627384	2	4104											
IL18RAP	8807	broad.mit.edu	37	chr2	103059671	103059671	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cattttcaggaaagcctttaActattagctgcaaagcacga	7	9	1	0			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr2:103059671A>C	ENST00000264260.2	+	8	1397	c.808A>C	c.(808-810)Act>Cct	p.T270P	AC007278.3_ENST00000450893.1_RNA|IL18RAP_ENST00000409369.1_Missense_Mutation_p.T128P	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	270	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						AAAGCCTTTAACTATTAGCTG	0.438																																						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.(808-810)Act>Cct		interleukin 18 receptor accessory protein							79	80	80					2																	103059671		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.chr2:103059671A>C	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.808A>C	2.37:g.103059671A>C	ENSP00000264260:p.Thr270Pro					IL18RAP_ENST00000409369.1_Missense_Mutation_p.T128P	p.T270P	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN			8	1397	+			270			Ig-like C2-type 2.		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	c.808A>C	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	A	15.08	2.728571	0.48833	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.16073	2.37;2.37	5.47	1.83	0.25207	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.640958	0.15156	N	0.277452	T	0.27063	0.0663	M	0.64997	1.995	0.09310	N	1	D	0.55800	0.973	P	0.55303	0.773	T	0.06499	-1.0823	10	0.38643	T	0.18	.	7.9363	0.29931	0.6877:0.0:0.3123:0.0	.	270	O95256	I18RA_HUMAN	P	270;128	ENSP00000264260:T270P;ENSP00000387201:T128P	ENSP00000264260:T270P	T	+	1	0	IL18RAP	102426103	0.852000	0.29690	0.017000	0.16124	0.703000	0.40648	2.534000	0.45676	0.375000	0.24679	0.528000	0.53228	ACT		0.438	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		16	48	0	0	0	1	0	16	48					C	103059671	A	C	103059671	3	2	197	1	0	0	0	0	1	0	0	0	7648	43	2	5	830	5	IL18RAP	2	103059671	Missense_Mutation	SNP	A	TCGA-EL-A3CS-01A-21D-A19J-08		103059671	140139702	3	4105											
TTN	7273	broad.mit.edu	37	chr2	179612467	179612467	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcctcatctaatttaggaAtattttgagaaaaactagtt	7	5	2	1			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr2:179612467A>G	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.I4887T			Q8WZ42	TITIN_HUMAN	titin						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)			TAATTTAGGAATATTTTGAGA	0.378																																						ENST00000360870.5																			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.(14659-14661)aTt>aCt		titin							55	56	55					2																	179612467		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179612467A>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.10360+5383T>C	2.37:g.179612467A>G						TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.I4887T	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	14882	-			1010			Ig-like 29.		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.14660T>C		.	.	.	.	.	.	.	.	.	.	A	9.232	1.036051	0.19590	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.58797	0.31	5.61	1.74	0.24563	.	.	.	.	.	T	0.30916	0.0780	N	0.08118	0	0.19775	N	0.999952	B	0.02656	0.0	B	0.04013	0.001	T	0.20773	-1.0265	9	0.10902	T	0.67	.	7.6104	0.28126	0.7199:0.0:0.2801:0.0	.	4887	Q8WZ42-6	.	T	4887;201	ENSP00000354117:I4887T	ENSP00000304714:I201T	I	-	2	0	TTN	179320712	0.523000	0.26274	0.262000	0.24481	0.133000	0.20885	1.848000	0.39309	0.434000	0.26340	0.528000	0.53228	ATT		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	33	0	0	0	1	0	10	33					G	179612467	A	G	179612467	1	3	197	0	1	0	0	0	0	0	0	0	16732	101	4	3		3	TTN	2	179612467	Intron	SNP	A	TCGA-EL-A3CS-01A-21D-A19J-08	76552796	179612467	63586906	4	4106											
XRCC5	7520	broad.mit.edu	37	chr2	216977742	216977742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaactttgtttccaggcaGctgttgtgctgtgtatggac	13	7	0	0			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr2:216977742G>A	ENST00000392133.3	+	4	486	c.25G>A	c.(25-27)Gct>Act	p.A9T	XRCC5_ENST00000392132.2_Missense_Mutation_p.A9T			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	9					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		TTTCCAGGCAGCTGTTGTGCT	0.398								Non-homologous end-joining																														ENST00000392133.3																			0				endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(25-27)Gct>Act	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)							157	151	153					2																	216977742		2203	4300	6503	SO:0001583	missense	7520				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding	g.chr2:216977742G>A	AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"Ku autoantigen, 80kDa"	194364	"X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.25G>A	2.37:g.216977742G>A	ENSP00000375978:p.Ala9Thr					XRCC5_ENST00000392132.2_Missense_Mutation_p.A9T	p.A9T			P13010	XRCC5_HUMAN		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)	4	486	+		Renal(323;0.0328)	9					A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	ENST00000392133.3	37	c.25G>A	CCDS2402.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688140	0.68271	.	.	ENSG00000079246	ENST00000392133;ENST00000392132	T;T	0.48836	0.8;0.8	5.12	4.24	0.50183	Ku70/Ku80, N-terminal alpha/beta (1);von Willebrand factor, type A (1);	0.063135	0.64402	D	0.000007	T	0.67869	0.2939	M	0.78801	2.425	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.72354	-0.4319	10	0.72032	D	0.01	.	12.7786	0.57464	0.0786:0.0:0.9214:0.0	.	9	P13010	XRCC5_HUMAN	T	9	ENSP00000375978:A9T;ENSP00000375977:A9T	ENSP00000375977:A9T	A	+	1	0	XRCC5	216685987	1.000000	0.71417	1.000000	0.80357	0.350000	0.29205	8.970000	0.93415	1.397000	0.46682	-0.136000	0.14681	GCT		0.398	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	NM_021141		34	60	0	0	0	1	0	34	60					A	216977742	G	A	216977742	3	1	197	1	0	0	0	0	1	0	0	0	17453	971	34	2	31	2	XRCC5	2	216977742	Missense_Mutation	SNP	G	TCGA-EL-A3CS-01A-21D-A19J-08	37365275	216977742	26221631	5	4107											
PDE12	201626	broad.mit.edu	37	chr3	57543196	57543196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctgacagcttggtacccGccctagaggccttcgggctc	11	14	1	2			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr3:57543196G>A	ENST00000311180.8	+	1	1193	c.1090G>A	c.(1090-1092)Gcc>Acc	p.A364T	PDE12_ENST00000487257.1_Missense_Mutation_p.A364T	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	364					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		CTTGGTACCCGCCCTAGAGGC	0.557																																					Colon(125;308 1634 19198 50622 50717)	ENST00000311180.8																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(1090-1092)Gcc>Acc		phosphodiesterase 12							48	49	49					3																	57543196		2203	4300	6503	SO:0001583	missense	201626						hydrolase activity	g.chr3:57543196G>A	AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"2'-phosphodiesterase"					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.1090G>A	3.37:g.57543196G>A	ENSP00000309142:p.Ala364Thr					PDE12_ENST00000487257.1_Missense_Mutation_p.A364T	p.A364T	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)	1	1193	+			364					B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Missense_Mutation	SNP	ENST00000311180.8	37	c.1090G>A	CCDS33772.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856907	0.71834	.	.	ENSG00000174840	ENST00000487257;ENST00000311180	T;T	0.80480	-1.38;-1.38	5.42	5.42	0.78866	Endonuclease/exonuclease/phosphatase (2);	0.099552	0.64402	D	0.000001	D	0.83243	0.5212	L	0.51853	1.615	0.54753	D	0.999987	D;P	0.65815	0.995;0.939	P;B	0.57468	0.821;0.357	T	0.79907	-0.1605	10	0.22706	T	0.39	-17.992	14.7807	0.69764	0.0:0.144:0.856:0.0	.	364;364	Q6L8Q7;F6T1Q0	PDE12_HUMAN;.	T	364	ENSP00000420626:A364T;ENSP00000309142:A364T	ENSP00000309142:A364T	A	+	1	0	PDE12	57518236	1.000000	0.71417	0.447000	0.26932	0.655000	0.38815	6.233000	0.72320	2.545000	0.85829	0.655000	0.94253	GCC		0.557	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351440.2	NM_177966		3	43	0	0	0	1	0	3	43					A	57543196	G	A	57543196	3	1	197	1	0	0	0	0	1	0	0	0	11632	1087	38	1	1092	1	PDE12	3	57543196	Missense_Mutation	SNP	G	TCGA-EL-A3CS-01A-21D-A19J-08		57543196	140479234	6	4108											
GPR98	84059	broad.mit.edu	37	chr5	89923208	89923208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tactcataattccagtagttCgtggaaaggacaacaatgga	9	7	1	0	rs200197273	byFrequency	TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr5:89923208C>T	ENST00000405460.2	+	7	949	c.853C>T	c.(853-855)Cgt>Tgt	p.R285C		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	285	Calx-beta 3. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.R285C(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCCAGTAGTTCGTGGAAAGGA	0.398																																						ENST00000405460.2																			1	Substitution - Missense(1)	p.R285C(1)	skin(1)	NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(853-855)Cgt>Tgt		G protein-coupled receptor 98							146	138	141					5																	89923208		1898	4124	6022	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89923208C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.853C>T	5.37:g.89923208C>T	ENSP00000384582:p.Arg285Cys						p.R285C	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	7	949	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	285					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.853C>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371596	0.61624	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.43688	0.94	5.7	4.83	0.62350	.	0.047609	0.85682	N	0.000000	T	0.66376	0.2783	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72130	-0.4383	10	0.87932	D	0	.	14.6307	0.68653	0.0:0.9302:0.0:0.0698	.	285	Q8WXG9	GPR98_HUMAN	C	285	ENSP00000384582:R285C	ENSP00000296619:R285C	R	+	1	0	GPR98	89958964	1.000000	0.71417	0.996000	0.52242	0.351000	0.29236	4.297000	0.59061	1.425000	0.47237	0.585000	0.79938	CGT		0.398	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		5	96	0	0	0	1	0	5	96					T	89923208	C	T	89923208	3	4	197	1	0	0	0	0	1	0	0	0	6721	884	31	1	879	1	GPR98	5	89923208	Missense_Mutation	SNP	C	TCGA-EL-A3CS-01A-21D-A19J-08		89923208	90992052	7	4109											
GRIK2	2898	broad.mit.edu	37	chr6	102307352	102307352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaatggaatggaatggttcGtgaactaattgatcatgtaa	10	4	1	2			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr6:102307352G>A	ENST00000421544.1	+	10	1998	c.1508G>A	c.(1507-1509)cGt>cAt	p.R503H	GRIK2_ENST00000413795.1_Missense_Mutation_p.R503H|GRIK2_ENST00000369138.1_Missense_Mutation_p.R503H|GRIK2_ENST00000369137.3_Missense_Mutation_p.R503H|GRIK2_ENST00000369134.4_Missense_Mutation_p.R454H|GRIK2_ENST00000318991.6_Missense_Mutation_p.R503H	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	503					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)	GGAATGGTTCGTGAACTAATT	0.353																																						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.(1507-1509)cGt>cAt		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						96	91	92					6																	102307352		2203	4300	6503	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.chr6:102307352G>A		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.1508G>A	6.37:g.102307352G>A	ENSP00000397026:p.Arg503His					GRIK2_ENST00000413795.1_Missense_Mutation_p.R503H|GRIK2_ENST00000369134.4_Missense_Mutation_p.R454H|GRIK2_ENST00000369137.3_Missense_Mutation_p.R503H|GRIK2_ENST00000421544.1_Missense_Mutation_p.R503H|GRIK2_ENST00000318991.6_Missense_Mutation_p.R503H	p.R503H	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)	10	1998	+		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)	503					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.1508G>A	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.450323	0.84101	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076;ENST00000436862	T;T;T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15	5.21	5.21	0.72293	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.116130	0.51477	D	0.000086	D	0.82692	0.5092	M	0.87381	2.88	0.48571	D	0.999676	P;P;P	0.48350	0.901;0.909;0.901	B;P;B	0.48795	0.403;0.59;0.291	D	0.86292	0.1674	10	0.66056	D	0.02	.	18.7526	0.91821	0.0:0.0:1.0:0.0	.	503;503;503	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	H	503;503;503;503;503;503;454;465;102	ENSP00000397026:R503H;ENSP00000405596:R503H;ENSP00000358134:R503H;ENSP00000358133:R503H;ENSP00000313276:R503H;ENSP00000358130:R454H;ENSP00000407140:R102H	ENSP00000313276:R503H	R	+	2	0	GRIK2	102414045	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.516000	0.60496	2.401000	0.81631	0.591000	0.81541	CGT		0.353	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			7	49	0	0	0	1	0	7	49					A	102307352	G	A	102307352	3	1	197	1	0	0	0	0	1	0	0	0	6774	1145	40	1	1546	1	GRIK2	6	102307352	Missense_Mutation	SNP	G	TCGA-EL-A3CS-01A-21D-A19J-08		102307352	68807715	8	4110											
HTR5A	3361	broad.mit.edu	37	chr7	154876155	154876155	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatacggctttcaacaagaaCtacaacagcgccttcaagaa	6	11	2	2			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr7:154876155C>A	ENST00000287907.2	+	2	1608	c.1032C>A	c.(1030-1032)aaC>aaA	p.N344K	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	344					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	TCAACAAGAACTACAACAGCG	0.468																																						ENST00000287907.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48						c.(1030-1032)aaC>aaA		5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled							143	148	146					7																	154876155		2203	4300	6503	SO:0001583	missense	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154876155C>A		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5300	protein-coding gene	gene with protein product		601305	"5-hydroxytryptamine (serotonin) receptor 5A"			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.1032C>A	7.37:g.154876155C>A	ENSP00000287907:p.Asn344Lys					HTR5A_ENST00000486819.1_3'UTR	p.N344K	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	2	1608	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	344					Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	c.1032C>A	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	c	13.54	2.268715	0.40095	.	.	ENSG00000157219	ENST00000287907	T	0.36340	1.26	4.93	2.14	0.27477	.	0.243084	0.47093	N	0.000248	T	0.32010	0.0815	L	0.45352	1.415	0.49915	D	0.999831	B	0.33120	0.398	B	0.39771	0.309	T	0.09487	-1.0672	10	0.87932	D	0	.	6.9633	0.24610	0.0:0.5861:0.27:0.1439	.	344	P47898	5HT5A_HUMAN	K	344	ENSP00000287907:N344K	ENSP00000287907:N344K	N	+	3	2	HTR5A	154507088	1.000000	0.71417	0.995000	0.50966	0.697000	0.40408	2.500000	0.45381	0.149000	0.19098	-1.709000	0.00716	AAC		0.468	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		6	148	1	0	0.00116845	1	0.00122544	6	148					A	154876155	C	A	154876155	3	1	197	1	0	0	0	0	1	0	0	0	7450	564	20	4	1038	4	HTR5A	7	154876155	Missense_Mutation	SNP	C	TCGA-EL-A3CS-01A-21D-A19J-08		154876155	4262508	9	4111											
PKHD1L1	93035	broad.mit.edu	37	chr8	110410703	110410703	+	Frame_Shift_Del	DEL	T	T	-													tataggtgaaccttgtgataTtttgaatgtcacagaaaata							TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr8:110410703delT	ENST00000378402.5	+	12	1042	c.938delT	c.(937-939)attfs	p.I313fs		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	313	IPT/TIG 3.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCTTGTGATATTTTGAATGTC	0.368										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(937-939)atfs		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							92	79	83					8																	110410703		1827	4074	5901	SO:0001589	frameshift_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110410703delT	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.938delT	8.37:g.110410703delT	ENSP00000367655:p.Ile313fs	HNSCC(38;0.096)					p.I313fs	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		12	1042	+			313			IPT/TIG 3.		Q567P2|Q9UF27	Frame_Shift_Del	DEL	ENST00000378402.5	37	c.938delT	CCDS47911.1																																																																																				0.368	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		2	4						2	4	---	---	---	---	-	110410703	T	-	110410703	7	5	197	1	0	1	0	1	0	0	0	0	11972	1493	52	0	984	0	PKHD1L1	8	110410703	Frame_Shift_Del	DEL	T	TCGA-EL-A3CS-01A-21D-A19J-08		110410703	35953319	10	4112											
JMJD1C	221037	broad.mit.edu	37	chr10	64973686	64973686	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggtacctggatttaaacaGgttctatgagatgaggagtg	14	4	1	2			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr10:64973686G>T	ENST00000399262.2	-	8	2459	c.2241C>A	c.(2239-2241)acC>acA	p.T747T	JMJD1C_ENST00000402544.1_Silent_p.T528T|JMJD1C_ENST00000489372.2_5'Flank|JMJD1C_ENST00000399251.1_Silent_p.T528T|JMJD1C_ENST00000542921.1_Silent_p.T565T	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	747					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)					GATTTAAACAGGTTCTATGAG	0.438																																						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.(2239-2241)acC>acA		jumonji domain containing 1C							126	111	116					10																	64973686		1942	4154	6096	SO:0001819	synonymous_variant	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.chr10:64973686G>T	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.2241C>A	10.37:g.64973686G>T						JMJD1C_ENST00000542921.1_Silent_p.T565T|JMJD1C_ENST00000402544.1_Silent_p.T528T|JMJD1C_ENST00000399251.1_Silent_p.T528T	p.T747T	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			8	2459	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		747					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Silent	SNP	ENST00000399262.2	37	c.2241C>A	CCDS41532.1																																																																																				0.438	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		27	39	1	0	3.99451e-17	1	4.4042e-17	27	39					T	64973686	G	T	64973686	2	4	197	1	0	0	0	0	0	0	0	1	7950	987	35	4		4	JMJD1C	10	64973686	Silent	SNP	G	TCGA-EL-A3CS-01A-21D-A19J-08		64973686	70561061	11	4113											
DNHD1	144132	broad.mit.edu	37	chr11	6588368	6588368	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgccacttttctgtatgAgcccagagaactggctggca	11	11	1	2			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr11:6588368A>C	ENST00000527990.2	+	34	11629	c.11629A>C	c.(11629-11631)Agc>Cgc	p.S3877R	DNHD1_ENST00000254579.6_Missense_Mutation_p.S3877R			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3877					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TTTCTGTATGAGCCCAGAGAA	0.537																																						ENST00000254579.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(11629-11631)Agc>Cgc		dynein heavy chain domain 1							90	92	91					11																	6588368		1978	4158	6136	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6588368A>C	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.11629A>C	11.37:g.6588368A>C	ENSP00000436180:p.Ser3877Arg					DNHD1_ENST00000527990.2_Missense_Mutation_p.S3877R	p.S3877R	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	36	12193	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	3877					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.11629A>C	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	A	8.163	0.789980	0.16258	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000525883;ENST00000530197	T;T	0.59638	0.25;0.25	4.78	-0.423	0.12325	.	1.207470	0.05939	N	0.636565	T	0.41581	0.1165	N	0.24115	0.695	0.09310	N	1	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.08055	0.002;0.001;0.003	T	0.38178	-0.9673	10	0.87932	D	0	1.4564	5.4695	0.16662	0.3034:0.4991:0.1975:0.0	.	2965;145;3877	B0I1S4;D3DQT9;Q96M86	.;.;DNHD1_HUMAN	R	3877;3877;145;145	ENSP00000254579:S3877R;ENSP00000436180:S3877R	ENSP00000254579:S3877R	S	+	1	0	DNHD1	6544944	0.001000	0.12720	0.115000	0.21578	0.429000	0.31625	0.227000	0.17795	0.010000	0.14839	0.459000	0.35465	AGC		0.537	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		8	79	0	0	0	1	0	8	79					C	6588368	A	C	6588368	3	2	197	1	0	0	0	0	1	0	0	0	4668	304	11	5	11772	5	DNHD1	11	6588368	Missense_Mutation	SNP	A	TCGA-EL-A3CS-01A-21D-A19J-08		6588368	128418148	12	4114											
MRPL16	54948	broad.mit.edu	37	chr11	59573896	59573896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catatgggctcagtactttcCgtatgcccagcatgttggca	10	11	1	0	rs117253311	byFrequency	TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr11:59573896C>T	ENST00000300151.4	-	4	893	c.680G>A	c.(679-681)cGg>cAg	p.R227Q		NM_017840.3	NP_060310.1	Q9NX20	RM16_HUMAN	mitochondrial ribosomal protein L16	227					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						CAGTACTTTCCGTATGCCCAG	0.463													C|||	9	0.00179712	0	0	5008	,	,		18932	0.0079		0	False		,,,				2504	0.001					ENST00000300151.4																			0				central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						c.(679-681)cGg>cAg		mitochondrial ribosomal protein L16							247	228	234					11																	59573896		2201	4295	6496	SO:0001583	missense	54948						rRNA binding	g.chr11:59573896C>T	AF183428	CCDS7976.1	11q12.1	2012-09-13			ENSG00000166902	ENSG00000166902		"Mitochondrial ribosomal proteins / large subunits"	14476	protein-coding gene	gene with protein product		611829					Standard	NM_017840		Approved	FLJ20484, PNAS-111	uc001noh.2	Q9NX20	OTTHUMG00000167410	ENST00000300151.4:c.680G>A	11.37:g.59573896C>T	ENSP00000300151:p.Arg227Gln						p.R227Q	NM_017840.3	NP_060310.1	Q9NX20	RM16_HUMAN			4	893	-			227					Q9BYD0|Q9HB70	Missense_Mutation	SNP	ENST00000300151.4	37	c.680G>A	CCDS7976.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	C	27.2	4.809275	0.90707	.	.	ENSG00000166902	ENST00000300151	T	0.23348	1.91	6.07	6.07	0.98685	.	0.045846	0.85682	D	0.000000	T	0.33469	0.0864	L	0.41573	1.285	0.80722	D	1	D	0.89917	1.0	D	0.64776	0.929	T	0.00802	-1.1560	10	0.27082	T	0.32	-22.0244	19.222	0.93801	0.0:1.0:0.0:0.0	.	227	Q9NX20	RM16_HUMAN	Q	227	ENSP00000300151:R227Q	ENSP00000300151:R227Q	R	-	2	0	MRPL16	59330472	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.797000	0.85911	2.884000	0.98904	0.655000	0.94253	CGG		0.463	MRPL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394521.1	NM_017840		5	143	0	0	0	1	0	5	143					T	59573896	C	T	59573896	3	4	197	1	0	0	0	0	1	0	0	0	9781	652	23	1	79	1	MRPL16	11	59573896	Missense_Mutation	SNP	C	TCGA-EL-A3CS-01A-21D-A19J-08	52985528	59573896	75432620	13	4115											
C12orf40	283461	broad.mit.edu	37	chr12	40076926	40076926	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaacgattactacccaagCagctctgaaagaaaaggttg	10	8	1	3			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr12:40076926C>T	ENST00000324616.5	+	8	1354	c.1200C>T	c.(1198-1200)agC>agT	p.S400S	C12orf40_ENST00000405531.3_Silent_p.S400S|C12orf40_ENST00000398716.1_Silent_p.S323S	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	400										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ACTACCCAAGCAGCTCTGAAA	0.294																																						ENST00000324616.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						c.(1198-1200)agC>agT		chromosome 12 open reading frame 40							45	44	45					12																	40076926		1792	3985	5777	SO:0001819	synonymous_variant	283461							g.chr12:40076926C>T	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.1200C>T	12.37:g.40076926C>T						C12orf40_ENST00000405531.3_Silent_p.S400S|C12orf40_ENST00000398716.1_Silent_p.S323S	p.S400S	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN			8	1354	+			400					B7WNU1|Q8IXY6|Q8N818|V9HW02	Silent	SNP	ENST00000324616.5	37	c.1200C>T	CCDS41770.1																																																																																				0.294	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		19	25	0	0	0	1	0	19	25					T	40076926	C	T	40076926	2	4	197	1	0	0	0	0	0	0	0	1	1686	709	25	2		2	C12orf40	12	40076926	Silent	SNP	C	TCGA-EL-A3CS-01A-21D-A19J-08		40076926	93774969	14	4116											
ADAM21	8747	broad.mit.edu	37	chr14	70924423	70924423	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatagtctgcggtttgggggCcagaaacacgttgttcatat	12	7	2	1			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr14:70924423C>A	ENST00000603540.1	+	2	465	c.207C>A	c.(205-207)ggC>ggA	p.G69G	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Silent_p.G69G	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	69					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GGTTTGGGGGCCAGAAACACG	0.527																																						ENST00000603540.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31						c.(205-207)ggC>ggA		ADAM metallopeptidase domain 21							120	128	126					14																	70924423		2203	4300	6503	SO:0001819	synonymous_variant	8747				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70924423C>A	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"ADAM metallopeptidase domain containing"	200	protein-coding gene	gene with protein product		603713	"a disintegrin and metalloproteinase domain 21"			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.207C>A	14.37:g.70924423C>A						RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Silent_p.G69G	p.G69G	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	465	+			69					O43507|Q2VPC6|Q32MR0	Silent	SNP	ENST00000603540.1	37	c.207C>A	CCDS9804.1																																																																																				0.527	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			17	152	1	0	7.01153e-11	1	7.5374e-11	17	152					A	70924423	C	A	70924423	2	1	197	1	0	0	0	0	0	0	0	1	243	726	26	4		4	ADAM21	14	70924423	Silent	SNP	C	TCGA-EL-A3CS-01A-21D-A19J-08		70924423	36425117	15	4117											
WARS	7453	broad.mit.edu	37	chr14	100808866	100808866	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagggctggtttaggatagcCgatcctgggggcgacgtccc	16	11	0	0			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr14:100808866C>A	ENST00000355338.2	-	9	1600	c.982G>T	c.(982-984)Ggc>Tgc	p.G328C	WARS_ENST00000344102.5_Missense_Mutation_p.G287C|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000556645.1_Missense_Mutation_p.G287C|WARS_ENST00000557135.1_Missense_Mutation_p.G328C|WARS_ENST00000392882.2_Missense_Mutation_p.G328C|RP11-638I2.9_ENST00000556212.1_RNA|WARS_ENST00000358655.4_Missense_Mutation_p.G287C	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	328					angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	TTAGGATAGCCGATCCTGGGG	0.582																																						ENST00000355338.2																			0				breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(982-984)Ggc>Tgc		tryptophanyl-tRNA synthetase	L-Tryptophan(DB00150)						80	77	78					14																	100808866		2203	4300	6503	SO:0001583	missense	7453				angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity	g.chr14:100808866C>A	M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	6.1.1.2	"Aminoacyl tRNA synthetases / Class I"	12729	protein-coding gene	gene with protein product	"tryptophan tRNA ligase 1, cytoplasmic"	191050		IFI53		1537332, 1763065	Standard	NM_004184		Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.982G>T	14.37:g.100808866C>A	ENSP00000347495:p.Gly328Cys					WARS_ENST00000557135.1_Missense_Mutation_p.G328C|WARS_ENST00000392882.2_Missense_Mutation_p.G328C|WARS_ENST00000358655.4_Missense_Mutation_p.G287C|WARS_ENST00000344102.5_Missense_Mutation_p.G287C|WARS_ENST00000556645.1_Missense_Mutation_p.G287C|RP11-638I2.8_ENST00000557226.1_RNA	p.G328C	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN			9	1600	-		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)	328					A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	Missense_Mutation	SNP	ENST00000355338.2	37	c.982G>T	CCDS9960.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.401777	0.83120	.	.	ENSG00000140105	ENST00000392882;ENST00000358655;ENST00000355338;ENST00000344102;ENST00000557135;ENST00000556645	T;T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93;-0.93	5.85	4.96	0.65561	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.049408	0.85682	D	0.000000	D	0.87993	0.6318	M	0.92649	3.33	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.89858	0.4014	10	0.87932	D	0	-2.1091	10.91	0.47103	0.0:0.8576:0.0:0.1424	.	328	P23381	SYWC_HUMAN	C	328;287;328;287;328;287	ENSP00000376620:G328C;ENSP00000351481:G287C;ENSP00000347495:G328C;ENSP00000339485:G287C;ENSP00000451460:G328C;ENSP00000451887:G287C	ENSP00000339485:G287C	G	-	1	0	WARS	99878619	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.081000	0.57627	1.477000	0.48234	0.655000	0.94253	GGC		0.582	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414236.1	NM_004184		3	24	1	0	0.115264	1	0.115264	3	24					A	100808866	C	A	100808866	3	1	197	1	0	0	0	0	1	0	0	0	17246	652	23	4	445	4	WARS	14	100808866	Missense_Mutation	SNP	C	TCGA-EL-A3CS-01A-21D-A19J-08	29884443	100808866	6540674	16	4118											
E4F1	1877	broad.mit.edu	37	chr16	2283533	2283533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccggcatcgtccttgagcGcgctgctggggaggagggtg	18	11	0	1			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr16:2283533G>A	ENST00000301727.4	+	8	1199	c.1151G>A	c.(1150-1152)cGc>cAc	p.R384H	DNASE1L2_ENST00000320700.5_5'Flank|DNASE1L2_ENST00000564065.1_5'Flank|E4F1_ENST00000565090.1_Intron|E4F1_ENST00000564139.1_Missense_Mutation_p.R384H|DNASE1L2_ENST00000567494.1_5'Flank|RP11-304L19.12_ENST00000564055.1_lincRNA	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	384	Mediates interaction with CDKN2A.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|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 transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			ovary(1)	1						GTCCTTGAGCGCGCTGCTGGG	0.706																																						ENST00000301727.4																			0				ovary(1)	1						c.(1150-1152)cGc>cAc		E4F transcription factor 1							11	13	12					16																	2283533		2178	4280	6458	SO:0001583	missense	1877				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr16:2283533G>A	U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"Zinc fingers, C2H2-type"	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.1151G>A	16.37:g.2283533G>A	ENSP00000301727:p.Arg384His					E4F1_ENST00000565090.1_Intron|E4F1_ENST00000564139.1_Missense_Mutation_p.R384H	p.R384H	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN			8	1199	+			384			Mediates interaction with CDKN2A.		A8K2R4|O00146	Missense_Mutation	SNP	ENST00000301727.4	37	c.1151G>A	CCDS32370.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.710727	0.48517	.	.	ENSG00000167967	ENST00000301727	T	0.07444	3.19	5.06	5.06	0.68205	.	0.168222	0.46442	D	0.000286	T	0.24044	0.0582	L	0.56769	1.78	0.20489	N	0.999896	D	0.76494	0.999	D	0.76071	0.987	T	0.01935	-1.1244	10	0.87932	D	0	-21.4991	12.8323	0.57752	0.0:0.1645:0.8355:0.0	.	384	Q66K89	E4F1_HUMAN	H	384	ENSP00000301727:R384H	ENSP00000301727:R384H	R	+	2	0	E4F1	2223534	0.885000	0.30320	0.915000	0.36163	0.348000	0.29142	2.217000	0.42880	2.374000	0.81015	0.448000	0.29417	CGC		0.706	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	NM_004424		6	7	0	0	0	1	0	6	7					A	2283533	G	A	2283533	3	1	197	1	0	0	0	0	1	0	0	0	4874	1087	38	1	1181	1	E4F1	16	2283533	Missense_Mutation	SNP	G	TCGA-EL-A3CS-01A-21D-A19J-08		2283533	88071220	17	4119											
HP	3240	broad.mit.edu	37	chr16	72090087	72090087	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagctgtcattgccctcctGctctggggacagctttttgc	12	12	2	0			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr16:72090087G>A	ENST00000355906.5	+	2	91	c.33G>A	c.(31-33)ctG>ctA	p.L11L	HP_ENST00000398131.2_Silent_p.L11L|HP_ENST00000357763.4_Silent_p.L11L|HP_ENST00000569639.1_Silent_p.L11L|HP_ENST00000565574.1_Silent_p.L11L|HP_ENST00000570083.1_Silent_p.L11L|HP_ENST00000562526.1_Silent_p.L11L|HPR_ENST00000356967.5_Intron	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	11					acute-phase response (GO:0006953)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|immune system process (GO:0002376)|negative regulation of hydrogen peroxide catabolic process (GO:2000296)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of cell death (GO:0010942)|response to hydrogen peroxide (GO:0042542)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)	antioxidant activity (GO:0016209)|hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		TTGCCCTCCTGCTCTGGGGAC	0.547																																						ENST00000355906.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7						c.(31-33)ctG>ctA		haptoglobin							156	147	150					16																	72090087		2091	4227	6318	SO:0001819	synonymous_variant	3240				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity	g.chr16:72090087G>A		CCDS45524.1, CCDS45525.1	16q22.2	2012-10-02			ENSG00000257017	ENSG00000257017			5141	protein-coding gene	gene with protein product		140100				11109501, 9352226	Standard	NM_005143		Approved		uc002fbr.4	P00738		ENST00000355906.5:c.33G>A	16.37:g.72090087G>A						HP_ENST00000570083.1_Silent_p.L11L|HP_ENST00000398131.2_Silent_p.L11L|HP_ENST00000569639.1_Silent_p.L11L|HPR_ENST00000356967.5_Intron|HP_ENST00000562526.1_Silent_p.L11L|HP_ENST00000565574.1_Silent_p.L11L	p.L11L	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)	2	91	+		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)	11					B0AZL5|P00737|Q0VAC4|Q0VAC5|Q2PP15|Q3B7J0|Q6LBY9|Q9UC67	Silent	SNP	ENST00000355906.5	37	c.33G>A	CCDS45524.1																																																																																				0.547	HP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421680.1	NM_005143		24	37	0	0	0	1	0	24	37					A	72090087	G	A	72090087	2	1	197	1	0	0	0	0	0	0	0	1	7327	1306	46	2		2	HP	16	72090087	Silent	SNP	G	TCGA-EL-A3CS-01A-21D-A19J-08	69806554	72090087	18264666	18	4120											
RPRD1A	55197	broad.mit.edu	37	chr18	33647274	33647274	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acgcgagtgtttacggtggtGaatgagccacagggacaagg	16	7	0	2			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr18:33647274G>C	ENST00000399022.4	-	1	265	c.94C>G	c.(94-96)Cac>Gac	p.H32D	RPRD1A_ENST00000588737.1_5'UTR|RPRD1A_ENST00000357384.4_Missense_Mutation_p.H32D|RPRD1A_ENST00000588459.1_5'Flank|RPRD1A_ENST00000590898.1_5'UTR|RPRD1A_ENST00000319040.6_Missense_Mutation_p.H32D	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	32	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.				dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						TTACGGTGGTGAATGAGCCAC	0.627																																						ENST00000399022.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						c.(94-96)Cac>Gac		regulation of nuclear pre-mRNA domain containing 1A							93	65	75					18																	33647274		2203	4299	6502	SO:0001583	missense	55197							g.chr18:33647274G>C	AF419845	CCDS11917.1	18q12.2	2012-02-09	2008-08-15		ENSG00000141425	ENSG00000141425			25560	protein-coding gene	gene with protein product	"cyclin-dependent kinase 2B-inhibitor-related protein", "Cyclin-dependent kinase inhibitor 2B-related protein (p15INK4B-related protein)"	610347				12470661, 22231121	Standard	NM_018170		Approved	P15RS, FLJ10656, HsT3101	uc002kzg.3	Q96P16	OTTHUMG00000132591	ENST00000399022.4:c.94C>G	18.37:g.33647274G>C	ENSP00000381984:p.His32Asp					RPRD1A_ENST00000319040.6_Missense_Mutation_p.H32D|RPRD1A_ENST00000590898.1_5'UTR|RPRD1A_ENST00000588737.1_5'UTR|RPRD1A_ENST00000357384.4_Missense_Mutation_p.H32D	p.H32D	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN			1	265	-			32			CID.		A8KA42|B2RBA3|Q7Z5G8|Q96FY9|Q9NVL4	Missense_Mutation	SNP	ENST00000399022.4	37	c.94C>G	CCDS11917.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.370597	0.61624	.	.	ENSG00000141425	ENST00000399022;ENST00000357384;ENST00000319040	T;T;T	0.39056	1.1;1.1;1.1	5.38	4.51	0.55191	ENTH/VHS (2);RNA polymerase II, large subunit, CTD (2);	0.000000	0.85682	D	0.000000	T	0.66268	0.2772	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;0.985	D;P	0.83275	0.996;0.811	T	0.71417	-0.4599	10	0.66056	D	0.02	-8.3277	13.3123	0.60386	0.0:0.0:0.8407:0.1593	.	32;32	Q96P16-2;Q96P16	.;RPR1A_HUMAN	D	32	ENSP00000381984:H32D;ENSP00000349955:H32D;ENSP00000314602:H32D	ENSP00000314602:H32D	H	-	1	0	RPRD1A	31901272	1.000000	0.71417	1.000000	0.80357	0.184000	0.23303	9.392000	0.97252	1.268000	0.44264	-0.310000	0.09108	CAC		0.627	RPRD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255802.1	NM_018170		4	10	0	0	0	1	0	4	10					C	33647274	G	C	33647274	3	2	197	1	0	0	0	0	1	0	0	0	13615	1290	45	4	872	4	RPRD1A	18	33647274	Missense_Mutation	SNP	G	TCGA-EL-A3CS-01A-21D-A19J-08		33647274	44429974	19	4121											
SLC1A6	6511	broad.mit.edu	37	chr19	15061128	15061128	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctgaagctccagctccCgctgagacaagtgctcgatg	10	14	0	2			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr19:15061128C>T	ENST00000221742.3	-	9	1581	c.1574G>A	c.(1573-1575)cGg>cAg	p.R525Q	SLC1A6_ENST00000600144.1_Missense_Mutation_p.R447Q|SLC1A6_ENST00000430939.2_Missense_Mutation_p.R461Q	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	525					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						CTCCAGCTCCCGCTGAGACAA	0.612																																						ENST00000430939.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1381-1383)cGg>cAg		solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	L-Glutamic Acid(DB00142)						60	55	57					19																	15061128		2203	4300	6503	SO:0001583	missense	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15061128C>T		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"Solute carriers"	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1574G>A	19.37:g.15061128C>T	ENSP00000221742:p.Arg525Gln					SLC1A6_ENST00000221742.3_Missense_Mutation_p.R525Q|SLC1A6_ENST00000600144.1_Missense_Mutation_p.R447Q	p.R461Q			P48664	EAA4_HUMAN			9	1511	-			525					Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	c.1382G>A	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	c	16.16	3.043204	0.55003	.	.	ENSG00000105143	ENST00000430939;ENST00000221742	T;T	0.70869	-0.52;0.53	5.57	-1.84	0.07809	.	0.424262	0.25222	N	0.032239	T	0.42988	0.1227	N	0.08118	0	0.58432	D	0.999999	B;B	0.28324	0.207;0.017	B;B	0.17433	0.018;0.002	T	0.10520	-1.0626	10	0.46703	T	0.11	-12.9414	9.5599	0.39362	0.0:0.294:0.0:0.706	.	461;525	E7EV13;P48664	.;EAA4_HUMAN	Q	461;525	ENSP00000409386:R461Q;ENSP00000221742:R525Q	ENSP00000221742:R525Q	R	-	2	0	SLC1A6	14922128	0.995000	0.38212	0.900000	0.35374	0.971000	0.66376	1.632000	0.37102	-0.135000	0.11495	0.544000	0.68410	CGG		0.612	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		20	42	0	0	0	1	0	20	42					T	15061128	C	T	15061128	3	4	197	1	0	0	0	0	1	0	0	0	14436	652	23	1	124	1	SLC1A6	19	15061128	Missense_Mutation	SNP	C	TCGA-EL-A3CS-01A-21D-A19J-08		15061128	44067855	20	4122											
HNF4A	3172	broad.mit.edu	37	chr20	43056987	43056987	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acctgcagggtcccccagcgAtgcaccccatgcccaccacc	8	21	0	0	rs565460600		TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr20:43056987A>T	ENST00000316099.4	+	9	1231	c.1142A>T	c.(1141-1143)gAt>gTt	p.D381V	HNF4A_ENST00000457232.1_Missense_Mutation_p.D359V|HNF4A_ENST00000415691.2_Missense_Mutation_p.D381V|HNF4A_ENST00000316673.4_Missense_Mutation_p.D359V	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	381					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TCCCCCAGCGATGCACCCCAT	0.597																																					Colon(79;2 1269 8820 14841 52347)	ENST00000316099.3																			0				endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34						c.(1141-1143)gAt>gTt		hepatocyte nuclear factor 4, alpha							112	85	94					20																	43056987		2203	4300	6503	SO:0001583	missense	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43056987A>T	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"Nuclear hormone receptors"	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.1142A>T	20.37:g.43056987A>T	ENSP00000312987:p.Asp381Val					HNF4A_ENST00000457232.1_Missense_Mutation_p.D359V|HNF4A_ENST00000415691.1_Missense_Mutation_p.D381V	p.D381V	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		9	1231	+		Myeloproliferative disorder(115;0.0122)	381					A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	ENST00000316099.4	37	c.1142A>T	CCDS13330.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.774676	0.90108	.	.	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000338692;ENST00000415691	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	5.93	5.93	0.95920	.	3.241510	0.01138	N	0.006125	D	0.83792	0.5331	L	0.59436	1.845	0.80722	D	1	P;P;P;P;D	0.53151	0.923;0.825;0.566;0.825;0.958	P;P;P;P;P	0.58721	0.707;0.466;0.466;0.594;0.844	T	0.65590	-0.6131	10	0.87932	D	0	.	16.3756	0.83387	1.0:0.0:0.0:0.0	.	374;381;381;359;359	Q5QPB7;P41235;F1D8S2;F1D8T0;P41235-6	.;HNF4A_HUMAN;.;.;.	V	359;359;381;411;381	ENSP00000315180:D359V;ENSP00000396216:D359V;ENSP00000312987:D381V;ENSP00000412111:D381V	ENSP00000312987:D381V	D	+	2	0	HNF4A	42490401	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.310000	0.96267	2.270000	0.75569	0.460000	0.39030	GAT		0.597	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			10	47	0	0	0	1	0	10	47					T	43056987	A	T	43056987	3	4	197	1	0	0	0	0	1	0	0	0	7253	333	12	5	1354	5	HNF4A	20	43056987	Missense_Mutation	SNP	A	TCGA-EL-A3CS-01A-21D-A19J-08		43056987	19968533	21	4123											
FBLN1	2192	broad.mit.edu	37	chr22	45972977	45972977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcaagcgttacatggacgGcatgaccgtgggtgagtggc	15	9	1	2			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr22:45972977G>A	ENST00000327858.6	+	16	2056	c.1961G>A	c.(1960-1962)gGc>gAc	p.G654D	FBLN1_ENST00000348697.2_Missense_Mutation_p.G654D	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	654					embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TACATGGACGGCATGACCGTG	0.582																																						ENST00000348697.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30						c.(1960-1962)gGc>gAc		fibulin 1							157	121	134					22																	45972977		2203	4300	6503	SO:0001583	missense	2192				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr22:45972977G>A		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"Fibulins"	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1961G>A	22.37:g.45972977G>A	ENSP00000331544:p.Gly654Asp					FBLN1_ENST00000327858.6_Missense_Mutation_p.G654D	p.G654D			P23142	FBLN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	19	2108	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	654					B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	ENST00000327858.6	37	c.1961G>A	CCDS14067.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945151	0.73672	.	.	ENSG00000077942	ENST00000348697;ENST00000327858	D;D	0.83506	-1.64;-1.73	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.70631	0.3246	L	0.27053	0.805	0.54753	D	0.999984	P	0.40909	0.732	B	0.36134	0.218	T	0.69371	-0.5163	10	0.15066	T	0.55	.	14.5739	0.68232	0.0:0.0:1.0:0.0	.	654	P23142	FBLN1_HUMAN	D	654	ENSP00000262723:G654D;ENSP00000331544:G654D	ENSP00000331544:G654D	G	+	2	0	FBLN1	44351641	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.901000	0.87382	2.241000	0.73720	0.462000	0.41574	GGC		0.582	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486		3	33	0	0	0	1	0	3	33					A	45972977	G	A	45972977	3	1	197	1	0	0	0	0	1	0	0	0	5698	1203	42	2	2503	2	FBLN1	22	45972977	Missense_Mutation	SNP	G	TCGA-EL-A3CS-01A-21D-A19J-08		45972977	5331589	22	4124											
TP73	7161	broad.mit.edu	37	chr1	3624151	3624151	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcagcaccatggaccagatGagcagccgcgcggcctcggc	14	15	0	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr1:3624151G>A	ENST00000378295.4	+	4	380	c.225G>A	c.(223-225)atG>atA	p.M75I	TP73_ENST00000378290.4_Missense_Mutation_p.M4I|TP73_ENST00000346387.4_Missense_Mutation_p.M75I|TP73_ENST00000354437.4_Missense_Mutation_p.M75I|TP73_ENST00000604479.1_Missense_Mutation_p.M75I|TP73_ENST00000378280.1_Missense_Mutation_p.M26I|TP73_ENST00000603362.1_Missense_Mutation_p.M75I|TP73_ENST00000604074.1_Missense_Mutation_p.M75I|TP73_ENST00000378285.1_Missense_Mutation_p.M26I|TP73_ENST00000357733.3_Missense_Mutation_p.M75I|TP73_ENST00000378288.4_Missense_Mutation_p.M26I	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	75					activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		TGGACCAGATGAGCAGCCGCG	0.667																																						ENST00000378295.4																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20						c.(223-225)atG>atA		tumor protein p73							73	83	79					1																	3624151		2203	4299	6502	SO:0001583	missense	7161				cellular response to UV|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|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity	g.chr1:3624151G>A	AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.225G>A	1.37:g.3624151G>A	ENSP00000367545:p.Met75Ile					TP73_ENST00000604479.1_Missense_Mutation_p.M75I|TP73_ENST00000604074.1_Missense_Mutation_p.M75I|TP73_ENST00000378280.1_Missense_Mutation_p.M26I|TP73_ENST00000378285.1_Missense_Mutation_p.M26I|TP73_ENST00000603362.1_Missense_Mutation_p.M75I|TP73_ENST00000378288.4_Missense_Mutation_p.M26I|TP73_ENST00000378290.4_Missense_Mutation_p.M4I|TP73_ENST00000357733.3_Missense_Mutation_p.M75I|TP73_ENST00000354437.4_Missense_Mutation_p.M75I|TP73_ENST00000346387.4_Missense_Mutation_p.M75I	p.M75I	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)	4	380	+	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)	75					B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Missense_Mutation	SNP	ENST00000378295.4	37	c.225G>A	CCDS49.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.409541	0.01155	.	.	ENSG00000078900	ENST00000378295;ENST00000354437;ENST00000357733;ENST00000346387;ENST00000378288;ENST00000378285;ENST00000378280;ENST00000378290	D;D;D;D;D;D;D;D	0.99282	-5.46;-5.59;-5.35;-5.46;-5.47;-5.61;-5.68;-5.44	4.6	2.5	0.30297	.	0.405120	0.25361	N	0.031221	D	0.95178	0.8437	N	0.12182	0.205	0.26232	N	0.978991	B;B;B;B;B;B;B	0.10296	0.0;0.0;0.003;0.0;0.001;0.001;0.0	B;B;B;B;B;B;B	0.11329	0.0;0.001;0.006;0.001;0.002;0.003;0.001	D	0.88031	0.2775	10	0.06365	T	0.9	-26.1386	8.9129	0.35563	0.0:0.2834:0.5949:0.1217	.	26;4;26;26;26;75;75	B7Z8Z1;B7Z7J4;O15350-10;O15350-9;O15350-8;O15350-2;O15350	.;.;.;.;.;.;P73_HUMAN	I	75;75;75;75;26;26;26;4	ENSP00000367545:M75I;ENSP00000346423:M75I;ENSP00000350366:M75I;ENSP00000340740:M75I;ENSP00000367537:M26I;ENSP00000367534:M26I;ENSP00000367529:M26I;ENSP00000367539:M4I	ENSP00000340740:M75I	M	+	3	0	TP73	3614011	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	3.012000	0.49575	0.906000	0.36621	0.491000	0.48974	ATG		0.667	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001468.4	NM_005427		21	198	0	0	0	0.010504	0	21	198					A	3624151	G	A	3624151	3	1	198	1	0	0	0	0	1	0	0	0	16390	1290	45	2	278	2	TP73	1	3624151	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08		3624151	245626470	1	4125											
WNT4	54361	broad.mit.edu	37	chr1	22448049	22448049	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccgaagagatggcgtacaCgaaggccgcctcccgagtcc	13	14	0	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr1:22448049C>T	ENST00000290167.6	-	3	377	c.334G>A	c.(334-336)Gtg>Atg	p.V112M	WNT4_ENST00000542383.1_Missense_Mutation_p.V57M	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN	wingless-type MMTV integration site family, member 4	112					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|embryonic epithelial tube formation (GO:0001838)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization to plasma membrane (GO:0090002)|female gonad development (GO:0008585)|female sex determination (GO:0030237)|immature T cell proliferation in thymus (GO:0033080)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|mammary gland epithelium development (GO:0061180)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric nephron morphogenesis (GO:0072273)|metanephric tubule formation (GO:0072174)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of gene expression (GO:0010629)|negative regulation of male gonad development (GO:2000019)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of testicular blood vessel morphogenesis (GO:0061369)|negative regulation of testosterone biosynthetic process (GO:2000225)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of wound healing (GO:0061045)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via MAPK cascade (GO:0038030)|oocyte development (GO:0048599)|paramesonephric duct development (GO:0061205)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cortisol biosynthetic process (GO:2000066)|positive regulation of dermatome development (GO:0061184)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of meiosis (GO:0045836)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|protein palmitoylation (GO:0018345)|regulation of cell-cell adhesion (GO:0022407)|renal vesicle formation (GO:0072033)|renal vesicle induction (GO:0072034)|smooth muscle cell differentiation (GO:0051145)|somatotropin secreting cell differentiation (GO:0060126)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		ATGGCGTACACGAAGGCCGCC	0.657																																						ENST00000290167.6																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8						c.(334-336)Gtg>Atg		wingless-type MMTV integration site family, member 4							44	44	44					1																	22448049		2203	4300	6503	SO:0001583	missense	54361				adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|extracellular space|Golgi apparatus|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity	g.chr1:22448049C>T	AL031281	CCDS223.1	1p36.23-p35.1	2013-02-28			ENSG00000162552	ENSG00000162552		"Wingless-type MMTV integration sites", "Endogenous ligands"	12783	protein-coding gene	gene with protein product		603490				8168088	Standard	NM_030761		Approved	WNT-4	uc001bfs.4	P56705	OTTHUMG00000002894	ENST00000290167.6:c.334G>A	1.37:g.22448049C>T	ENSP00000290167:p.Val112Met					WNT4_ENST00000542383.1_Missense_Mutation_p.V57M	p.V112M	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	3	377	-		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	112					B4DJF9|Q5TZQ0|Q96T81|Q9BXF5|Q9H1J8|Q9UJM2	Missense_Mutation	SNP	ENST00000290167.6	37	c.334G>A	CCDS223.1	.	.	.	.	.	.	.	.	.	.	C	32	5.152803	0.94645	.	.	ENSG00000162552	ENST00000290167;ENST00000542383	T;T	0.78707	-1.2;-1.2	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	D	0.88923	0.6569	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.90869	0.4744	10	0.72032	D	0.01	.	16.4483	0.83959	0.0:1.0:0.0:0.0	.	112	P56705	WNT4_HUMAN	M	112;57	ENSP00000290167:V112M;ENSP00000441033:V57M	ENSP00000290167:V112M	V	-	1	0	WNT4	22320636	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.853000	0.62911	2.303000	0.77524	0.555000	0.69702	GTG		0.657	WNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008088.2			4	52	0	0	0	0.009096	0	4	52					T	22448049	C	T	22448049	3	4	198	1	0	0	0	0	1	0	0	0	17387	536	19	1	733	1	WNT4	1	22448049	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	18823898	22448049	226802572	2	4126											
RCC1	1104	broad.mit.edu	37	chr1	28863285	28863285	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catacagcctgggccgggctGagtatgggcggctgggcctt	17	11	0	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr1:28863285G>A	ENST00000373833.6	+	12	1249	c.964G>A	c.(964-966)Gag>Aag	p.E322K	RCC1_ENST00000398958.2_Missense_Mutation_p.E322K|RCC1_ENST00000373832.1_Missense_Mutation_p.E322K|RCC1_ENST00000373831.3_Missense_Mutation_p.E353K			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	322					chromosome segregation (GO:0007059)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of Ran GTPase activity (GO:0032853)|regulation of mitosis (GO:0007088)|spindle assembly (GO:0051225)|viral process (GO:0016032)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosomal DNA binding (GO:0031492)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCCGGGCTGAGTATGGGCG	0.612																																						ENST00000373833.6																			0				breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14						c.(964-966)Gag>Aag		regulator of chromosome condensation 1							94	95	95					1																	28863285		2203	4300	6503	SO:0001583	missense	1104				cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity	g.chr1:28863285G>A	X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198			1913	protein-coding gene	gene with protein product		179710	"chromosome condensation 1"	CHC1		7851910	Standard	NM_001048199		Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373833.6:c.964G>A	1.37:g.28863285G>A	ENSP00000362939:p.Glu322Lys					RCC1_ENST00000373832.1_Missense_Mutation_p.E322K|RCC1_ENST00000398958.2_Missense_Mutation_p.E322K|RCC1_ENST00000373831.3_Missense_Mutation_p.E353K	p.E322K			P18754	RCC1_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)	12	1249	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)	322					Q16269|Q6NT97	Missense_Mutation	SNP	ENST00000373833.6	37	c.964G>A	CCDS323.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955818	0.92726	.	.	ENSG00000180198	ENST00000398958;ENST00000373833;ENST00000373832;ENST00000373831;ENST00000411533	D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04	5.8	5.8	0.92144	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.88314	0.6403	M	0.62723	1.935	0.80722	D	1	D;D;P	0.58268	0.982;0.971;0.939	P;P;P	0.51355	0.667;0.588;0.447	D	0.87595	0.2493	10	0.44086	T	0.13	-28.4638	18.6252	0.91334	0.0:0.0:1.0:0.0	.	353;339;322	P18754-2;E9PAT9;P18754	.;.;RCC1_HUMAN	K	322;322;322;353;339	ENSP00000381931:E322K;ENSP00000362939:E322K;ENSP00000362938:E322K;ENSP00000362937:E353K;ENSP00000413644:E339K	ENSP00000362937:E353K	E	+	1	0	RCC1	28735872	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.824000	0.99380	2.741000	0.93983	0.655000	0.94253	GAG		0.612	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010323.3	NM_001269		42	161	0	0	0	0.036044	0	42	161					A	28863285	G	A	28863285	3	1	198	1	0	0	0	0	1	0	0	0	13173	1291	45	2	1091	2	RCC1	1	28863285	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	6415236	28863285	220387336	3	4127											
ADAM30	11085	broad.mit.edu	37	chr1	120438365	120438365	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagtactttgggtgtttatAggatccaggaaagtccctta	10	7	0	0			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr1:120438365A>G	ENST00000369400.1	-	1	753	c.595T>C	c.(595-597)Tat>Cat	p.Y199H		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	199					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GGGTGTTTATAGGATCCAGGA	0.408																																						ENST00000369400.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38						c.(595-597)Tat>Cat		ADAM metallopeptidase domain 30							100	100	100					1																	120438365		2203	4300	6503	SO:0001583	missense	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120438365A>G	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"ADAM metallopeptidase domain containing"	208	protein-coding gene	gene with protein product		604779	"a disintegrin and metalloproteinase domain 30"				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.595T>C	1.37:g.120438365A>G	ENSP00000358407:p.Tyr199His						p.Y199H	NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	753	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	199					A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	c.595T>C	CCDS907.1	.	.	.	.	.	.	.	.	.	.	A	9.856	1.195019	0.22037	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.01159	5.25	4.57	0.941	0.19519	Metallopeptidase, catalytic domain (1);	0.000000	0.42548	D	0.000683	T	0.00300	0.0009	N	0.17082	0.46	0.09310	N	1	B	0.24920	0.114	B	0.25405	0.06	T	0.48115	-0.9063	10	0.87932	D	0	.	3.7881	0.08709	0.6169:0.1885:0.1947:0.0	.	199	Q9UKF2	ADA30_HUMAN	H	199	ENSP00000358407:Y199H	ENSP00000358407:Y199H	Y	-	1	0	ADAM30	120239888	0.081000	0.21417	0.000000	0.03702	0.019000	0.09904	1.834000	0.39171	-0.005000	0.14395	0.460000	0.39030	TAT		0.408	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		3	119	0	0	0	0.009096	0	3	119					G	120438365	A	G	120438365	3	3	198	1	0	0	0	0	1	0	0	0	248	420	15	3	1781	3	ADAM30	1	120438365	Missense_Mutation	SNP	A	TCGA-EL-A3CT-01A-12D-A202-08	91575080	120438365	128812256	4	4128											
PIAS3	10401	broad.mit.edu	37	chr1	145584527	145584527	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcctcggtgctaaggagcccTgctatgggcacgttgggtgg	16	10	0	0			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr1:145584527T>A	ENST00000393045.2	+	12	1584	c.1494T>A	c.(1492-1494)ccT>ccA	p.P498P	NUDT17_ENST00000444015.2_5'Flank|PIAS3_ENST00000369298.1_Silent_p.P463P	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	498					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TAAGGAGCCCTGCTATGGGCA	0.597																																						ENST00000393045.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.(1492-1494)ccT>ccA		protein inhibitor of activated STAT, 3							116	114	115					1																	145584527		2203	4300	6503	SO:0001819	synonymous_variant	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145584527T>A	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"Zinc fingers, MIZ-type"	16861	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 5"	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1494T>A	1.37:g.145584527T>A						PIAS3_ENST00000369298.1_Silent_p.P463P	p.P498P	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN			12	1584	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		498					Q9UFI3	Silent	SNP	ENST00000393045.2	37	c.1494T>A	CCDS920.2																																																																																				0.597	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		8	225	0	0	0	0.038147	0	8	225					A	145584527	T	A	145584527	2	1	198	1	0	0	0	0	0	0	0	1	11877	1567	55	5		5	PIAS3	1	145584527	Silent	SNP	T	TCGA-EL-A3CT-01A-12D-A202-08	25146162	145584527	103666094	5	4129											
PI4KB	5298	broad.mit.edu	37	chr1	151288518	151288518	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctccttggagttatacaggTatgaaatggccatggagatg	13	6	0	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr1:151288518T>C	ENST00000368873.1	-	2	608	c.440A>G	c.(439-441)tAc>tGc	p.Y147C	PI4KB_ENST00000368872.1_Missense_Mutation_p.Y147C|PI4KB_ENST00000368875.2_Missense_Mutation_p.Y159C|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000271657.5_Missense_Mutation_p.Y159C|PI4KB_ENST00000368874.4_Missense_Mutation_p.Y147C			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	147	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTTATACAGGTATGAAATGGC	0.498																																					Colon(154;765 1838 9854 28443 37492)	ENST00000368875.2																			0				breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27						c.(475-477)tAc>tGc		phosphatidylinositol 4-kinase, catalytic, beta							78	78	78					1																	151288518		2203	4300	6503	SO:0001583	missense	5298				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr1:151288518T>C	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.440A>G	1.37:g.151288518T>C	ENSP00000357867:p.Tyr147Cys					PI4KB_ENST00000368872.1_Missense_Mutation_p.Y147C|PI4KB_ENST00000368874.4_Missense_Mutation_p.Y147C|PI4KB_ENST00000271657.5_Missense_Mutation_p.Y159C|PI4KB_ENST00000368873.1_Missense_Mutation_p.Y147C|PI4KB_ENST00000529142.1_Intron	p.Y159C	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		3	1056	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		147					B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37	c.476A>G		.	.	.	.	.	.	.	.	.	.	T	20.6	4.020435	0.75275	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000368872;ENST00000438243	T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.75774	0.3895	M	0.79926	2.475	0.80722	D	1	D;D;D	0.89917	1.0;0.989;1.0	D;P;D	0.97110	0.999;0.873;1.0	T	0.80011	-0.1561	10	0.87932	D	0	-2.9892	14.6298	0.68647	0.0:0.0:0.0:1.0	.	147;147;147	E9PIH4;Q9UBF8;Q9UBF8-2	.;PI4KB_HUMAN;.	C	147;159;159;147;147;147	ENSP00000357868:Y147C;ENSP00000357869:Y159C;ENSP00000271657:Y159C;ENSP00000357867:Y147C;ENSP00000357866:Y147C;ENSP00000394719:Y147C	ENSP00000271657:Y159C	Y	-	2	0	PI4KB	149555142	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.781000	0.85668	2.324000	0.78689	0.533000	0.62120	TAC		0.498	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		4	82	0	0	0	0.014758	0	4	82					C	151288518	T	C	151288518	3	2	198	1	0	0	0	0	1	0	0	0	11874	1638	57	3	2054	3	PI4KB	1	151288518	Missense_Mutation	SNP	T	TCGA-EL-A3CT-01A-12D-A202-08	5703991	151288518	97962103	6	4130											
RFX5	5993	broad.mit.edu	37	chr1	151316350	151316350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggggttacttctgggccCatttctggctgaagtgggga	16	8	2	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr1:151316350C>T	ENST00000290524.4	-	9	742	c.564G>A	c.(562-564)atG>atA	p.M188I	RFX5_ENST00000452671.2_Missense_Mutation_p.M188I|RFX5_ENST00000368870.2_Missense_Mutation_p.M188I|RP11-126K1.8_ENST00000422153.1_RNA|RFX5_ENST00000478564.1_5'Flank|RFX5_ENST00000452513.2_Missense_Mutation_p.M148I	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	188					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTTCTGGGCCCATTTCTGGCT	0.527																																						ENST00000290524.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(562-564)atG>atA		regulatory factor X, 5 (influences HLA class II expression)							61	58	59					1																	151316350		2203	4300	6503	SO:0001583	missense	5993					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:151316350C>T		CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.564G>A	1.37:g.151316350C>T	ENSP00000290524:p.Met188Ile					RFX5_ENST00000452671.2_Missense_Mutation_p.M188I|RFX5_ENST00000452513.2_Missense_Mutation_p.M148I|RFX5_ENST00000368870.2_Missense_Mutation_p.M188I	p.M188I	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		9	742	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		188					B7Z848|D3DV19|E9PFU4|Q5VWC3	Missense_Mutation	SNP	ENST00000290524.4	37	c.564G>A	CCDS994.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.764916	0.49574	.	.	ENSG00000143390	ENST00000290524;ENST00000368870;ENST00000436637;ENST00000452671;ENST00000452513;ENST00000392746;ENST00000422595	T;T;T;T;T;T;T	0.72051	0.35;0.35;-0.62;0.35;0.35;0.35;-0.61	5.81	5.81	0.92471	.	0.166795	0.53938	D	0.000058	T	0.50548	0.1622	L	0.51422	1.61	0.42662	D	0.993485	B;B	0.30406	0.278;0.01	B;B	0.24974	0.057;0.005	T	0.50849	-0.8779	10	0.27082	T	0.32	-17.0776	14.28	0.66205	0.0:0.8513:0.1487:0.0	.	148;188	B7Z848;P48382	.;RFX5_HUMAN	I	188;188;80;188;148;188;188	ENSP00000290524:M188I;ENSP00000357864:M188I;ENSP00000390769:M80I;ENSP00000389130:M188I;ENSP00000398388:M148I;ENSP00000376502:M188I;ENSP00000399095:M188I	ENSP00000290524:M188I	M	-	3	0	RFX5	149582974	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.592000	0.53993	2.746000	0.94184	0.655000	0.94253	ATG		0.527	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6	NM_000449		17	54	0	0	0	0.007413	0	17	54					T	151316350	C	T	151316350	3	4	198	1	0	0	0	0	1	0	0	0	13266	594	21	2	1298	2	RFX5	1	151316350	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	27832	151316350	97934271	7	4131											
TMEM63A	9725	broad.mit.edu	37	chr1	226036682	226036682	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggtgagcagcagcaccagGaaggtgaacagagtggcggg	18	7	0	3			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr1:226036682G>A	ENST00000366835.3	-	22	2373	c.2103C>T	c.(2101-2103)ttC>ttT	p.F701F	RP11-285F7.2_ENST00000424332.1_RNA	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	701					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					GCAGCACCAGGAAGGTGAACA	0.612																																						ENST00000366835.3																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(2101-2103)ttC>ttT		transmembrane protein 63A							38	33	35					1																	226036682		2203	4297	6500	SO:0001819	synonymous_variant	9725					integral to membrane|lysosomal membrane	nucleotide binding	g.chr1:226036682G>A		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"KIAA0792"	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.2103C>T	1.37:g.226036682G>A							p.F701F	NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN			22	2373	-	Breast(184;0.197)		701					Q53GI7|Q5TE96|Q8N2U2	Silent	SNP	ENST00000366835.3	37	c.2103C>T	CCDS31042.1																																																																																				0.612	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698		4	10	0	0	0	0.009096	0	4	10					A	226036682	G	A	226036682	2	1	198	1	0	0	0	0	0	0	0	1	16187	1165	41	2		2	TMEM63A	1	226036682	Silent	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	74720332	226036682	23213939	8	4132											
SPDYA	245711	broad.mit.edu	37	chr2	29063092	29063092	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaagagaacgttctgttcatCacagtggagctgtcagaaac	10	8	4	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr2:29063092C>T	ENST00000334056.5	+	7	796	c.607C>T	c.(607-609)Cac>Tac	p.H203Y	SPDYA_ENST00000462832.1_3'UTR|SPDYA_ENST00000379579.4_Missense_Mutation_p.H203Y	NM_182756.3	NP_877433.2			speedy/RINGO cell cycle regulator family member A											cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					TTCTGTTCATCACAGTGGAGC	0.398																																						ENST00000334056.5																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(607-609)Cac>Tac		speedy/RINGO cell cycle regulator family member A							59	53	55					2																	29063092		2203	4300	6503	SO:0001583	missense	245711				G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding	g.chr2:29063092C>T	AA424209	CCDS1767.2	2p23	2013-05-08	2013-05-08	2006-03-31	ENSG00000163806	ENSG00000163806		"Speedy homologs"	30613	protein-coding gene	gene with protein product		614029	"speedy homolog 1 (Drosophila)", "speedy homolog A (Xenopus laevis)"	SPDY1		11980914, 12839962, 15611625	Standard	NM_182756		Approved	SPY1, Ringo3	uc002rmk.3	Q5MJ70	OTTHUMG00000074041	ENST00000334056.5:c.607C>T	2.37:g.29063092C>T	ENSP00000335628:p.His203Tyr					SPDYA_ENST00000379579.4_Missense_Mutation_p.H203Y|SPDYA_ENST00000462832.1_3'UTR	p.H203Y	NM_182756.3	NP_877433.2	Q5MJ70	SPDYA_HUMAN			7	796	+	Acute lymphoblastic leukemia(172;0.155)		203						Missense_Mutation	SNP	ENST00000334056.5	37	c.607C>T	CCDS1767.2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404080	0.83230	.	.	ENSG00000163806	ENST00000379579;ENST00000334056	.	.	.	5.64	5.64	0.86602	.	0.000000	0.64402	U	0.000001	T	0.80042	0.4551	M	0.72118	2.19	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.80783	-0.1228	9	0.87932	D	0	-18.6128	20.0585	0.97663	0.0:1.0:0.0:0.0	.	203;203	Q5MJ70;Q5MJ70-1	SPDYA_HUMAN;.	Y	203	.	ENSP00000335628:H203Y	H	+	1	0	SPDYA	28916596	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.631000	0.67812	2.812000	0.96745	0.557000	0.71058	CAC		0.398	SPDYA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157171.1	NM_182756		5	37	0	0	0	0.014758	0	5	37					T	29063092	C	T	29063092	3	4	198	1	0	0	0	0	1	0	0	0	15026	826	29	2	625	2	SPDYA	2	29063092	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08		29063092	214136281	9	4133											
EHBP1	23301	broad.mit.edu	37	chr2	63091877	63091877	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	attttatagaacctatcactGaaacagcttcacctagaaaa	4	9	2	3			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr2:63091877G>A	ENST00000263991.5	+	10	1356	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	EHBP1_ENST00000431489.1_Missense_Mutation_p.E257K|EHBP1_ENST00000405015.3_Missense_Mutation_p.E257K|EHBP1_ENST00000405289.1_Missense_Mutation_p.E257K|EHBP1_ENST00000354487.3_Missense_Mutation_p.E257K	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	292						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			ACCTATCACTGAAACAGCTTC	0.299																																						ENST00000263991.5																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47						c.(874-876)Gaa>Aaa		EH domain binding protein 1							55	61	59					2																	63091877		2190	4295	6485	SO:0001583	missense	23301					cytoplasm|membrane		g.chr2:63091877G>A	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.874G>A	2.37:g.63091877G>A	ENSP00000263991:p.Glu292Lys					EHBP1_ENST00000431489.1_Missense_Mutation_p.E257K|EHBP1_ENST00000405289.1_Missense_Mutation_p.E257K|EHBP1_ENST00000354487.3_Missense_Mutation_p.E257K|EHBP1_ENST00000405015.3_Missense_Mutation_p.E257K	p.E292K	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		10	1356	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		292					O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	ENST00000263991.5	37	c.874G>A	CCDS1872.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.712912	0.48517	.	.	ENSG00000115504	ENST00000405015;ENST00000405482;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	T;T;T;T;T;T	0.74002	-0.8;0.91;-0.8;-0.79;-0.79;-0.79	5.54	5.54	0.83059	.	0.124682	0.56097	D	0.000031	T	0.70570	0.3239	L	0.56769	1.78	0.51767	D	0.999935	B;B;B	0.21606	0.027;0.004;0.058	B;B;B	0.18561	0.019;0.011;0.022	T	0.66396	-0.5934	10	0.41790	T	0.15	.	14.0777	0.64900	0.0725:0.0:0.9275:0.0	.	257;257;292	Q8NDI1-2;Q8NDI1-3;Q8NDI1	.;.;EHBP1_HUMAN	K	257;257;257;292;257;257	ENSP00000384143:E257K;ENSP00000384829:E257K;ENSP00000403783:E257K;ENSP00000263991:E292K;ENSP00000346482:E257K;ENSP00000385524:E257K	ENSP00000263991:E292K	E	+	1	0	EHBP1	62945381	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	2.412000	0.44609	2.765000	0.95021	0.557000	0.71058	GAA		0.299	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		13	67	0	0	0	0.016723	0	13	67					A	63091877	G	A	63091877	3	1	198	1	0	0	0	0	1	0	0	0	4975	1291	45	2	908	2	EHBP1	2	63091877	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	34028785	63091877	180107496	10	4134											
KIAA1310	55683	broad.mit.edu	37	chr2	97270558	97270558	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgagctccttggcccctgctGaagcctgccccagtgtcatg	11	15	1	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr2:97270558G>A	ENST00000431828.1	-	16	2052	c.1976C>T	c.(1975-1977)tCa>tTa	p.S659L	KANSL3_ENST00000599854.1_Missense_Mutation_p.S572L|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000441706.2_Intron|KANSL3_ENST00000440133.1_Missense_Mutation_p.S479L			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	685					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GGCCCCTGCTGAAGCCTGCCC	0.522																																						ENST00000599854.1																			0											c.(1714-1716)tCa>tTa		KAT8 regulatory NSL complex subunit 3							56	57	57					2																	97270558		1974	4174	6148	SO:0001583	missense	55683							g.chr2:97270558G>A	BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"KIAA1310"	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.1976C>T	2.37:g.97270558G>A	ENSP00000396749:p.Ser659Leu					KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000441706.2_Intron|KANSL3_ENST00000440133.1_Missense_Mutation_p.S479L|KANSL3_ENST00000431828.1_Missense_Mutation_p.S659L	p.S572L	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN			16	2182	-			685					A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Missense_Mutation	SNP	ENST00000431828.1	37	c.1715C>T	CCDS46361.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.131064	0.56828	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000440133;ENST00000444759	T;T	0.45668	0.91;0.89	5.92	5.92	0.95590	.	0.485335	0.22920	N	0.054025	T	0.27697	0.0681	N	0.08118	0	0.80722	D	1	B;B;B;B;B	0.19706	0.022;0.02;0.013;0.038;0.034	B;B;B;B;B	0.19391	0.004;0.024;0.025;0.006;0.025	T	0.06917	-1.0800	10	0.30854	T	0.27	.	17.8282	0.88672	0.0:0.0:1.0:0.0	.	453;685;659;570;545	B4E1W4;Q9P2N6;Q9P2N6-3;Q9P2N6-5;Q9P2N6-6	.;K1310_HUMAN;.;.;.	L	572;545;659;479;453	ENSP00000396749:S659L;ENSP00000406207:S479L	ENSP00000346144:S572L	S	-	2	0	KIAA1310	96634285	0.416000	0.25424	0.021000	0.16686	0.978000	0.69477	4.034000	0.57289	2.822000	0.97130	0.650000	0.86243	TCA		0.522	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2	NM_017991		5	10	0	0	0	0.021553	0	5	10					A	97270558	G	A	97270558	3	1	198	1	0	0	0	0	1	0	0	0	8222	1294	45	2	684	2	KIAA1310	2	97270558	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	34178681	97270558	145928815	11	4135											
ANAPC1	64682	broad.mit.edu	37	chr2	112621447	112621447	+	Missense_Mutation	SNP	G	G	A													gtggggttcccccctgttcaGagaactttaaaacaacattc							TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr2:112621447G>A	ENST00000341068.3	-	9	1629	c.857C>T	c.(856-858)tCt>tTt	p.S286F		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	286					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CCCCTGTTCAGAGAACTTTAA	0.398																																						ENST00000341068.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(856-858)tCt>tTt		anaphase promoting complex subunit 1							27	29	28					2																	112621447		2203	4298	6501	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112621447G>A	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"Anaphase promoting complex subunits"	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.857C>T	2.37:g.112621447G>A	ENSP00000339109:p.Ser286Phe						p.S286F	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			9	1629	-			286					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.857C>T	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.435486	0.62955	.	.	ENSG00000153107	ENST00000341068	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	T	0.42765	0.1217	L	0.36672	1.1	0.38127	D	0.938042	P	0.38922	0.651	B	0.30855	0.121	T	0.51364	-0.8715	8	0.49607	T	0.09	-13.6752	17.4911	0.87703	0.0:0.0:1.0:0.0	.	286	Q9H1A4	APC1_HUMAN	F	286	.	ENSP00000339109:S286F	S	-	2	0	ANAPC1	112337918	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.388000	0.79795	2.553000	0.86117	0.650000	0.86243	TCT		0.398	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		5	17	0	0	0	0.013537	0	5	17					A	112621447	G	A	112621447	3	1	198	1	0	0	0	0	1	0	0	0	598	942	33	2	5137	2	ANAPC1	2	112621447	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	15350889	112621447	130577926	12	4136	21	2									
ANAPC1	64682	broad.mit.edu	37	chr2	112621449	112621449	+	Silent	SNP	G	G	A													ggggttcccccctgttcagaGaactttaaaacaacattctc							TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr2:112621449G>A	ENST00000341068.3	-	9	1627	c.855C>T	c.(853-855)ttC>ttT	p.F285F		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	285					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CCTGTTCAGAGAACTTTAAAA	0.393																																						ENST00000341068.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(853-855)ttC>ttT		anaphase promoting complex subunit 1							27	29	28					2																	112621449		2203	4298	6501	SO:0001819	synonymous_variant	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112621449G>A	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"Anaphase promoting complex subunits"	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.855C>T	2.37:g.112621449G>A							p.F285F	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			9	1627	-			285					Q2M3H8|Q9BSE6|Q9H8D0	Silent	SNP	ENST00000341068.3	37	c.855C>T	CCDS2093.1																																																																																				0.393	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		5	17	0	0	0	0.013537	0	5	17					A	112621449	G	A	112621449	2	1	198	1	0	0	0	0	0	0	0	1	598	933	33	2		2	ANAPC1	2	112621449	Silent	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	2	112621449	130577924	13	4137	21	2									
LAMB2	3913	broad.mit.edu	37	chr3	49169963	49169963	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagtagggctgggggccattCaggccacaagtggatgaggc	17	9	1	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr3:49169963C>T	ENST00000418109.1	-	3	374	c.210G>A	c.(208-210)ctG>ctA	p.L70L	LAMB2_ENST00000305544.4_Silent_p.L70L	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	70	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGGGGCCATTCAGGCCACAAG	0.662																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(208-210)ctG>ctA		laminin, beta 2 (laminin S)							44	47	46					3																	49169963		2203	4300	6503	SO:0001819	synonymous_variant	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49169963C>T		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.210G>A	3.37:g.49169963C>T						LAMB2_ENST00000305544.4_Silent_p.L70L	p.L70L	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	3	374	-			70			Laminin N-terminal.		Q16321	Silent	SNP	ENST00000418109.1	37	c.210G>A	CCDS2789.1																																																																																				0.662	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		22	76	0	0	0	0.010504	0	22	76					T	49169963	C	T	49169963	2	4	198	1	0	0	0	0	0	0	0	1	8611	813	29	2		2	LAMB2	3	49169963	Silent	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08		49169963	148852467	14	4138											
ADAMTS9	56999	broad.mit.edu	37	chr3	64527264	64527264	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcactggcacctttaagtcTttttacctccttgcaattct	4	12	3	0			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr3:64527264T>C	ENST00000498707.1	-	34	5572	c.5230A>G	c.(5230-5232)Aga>Gga	p.R1744G	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1716G	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1744	GON. {ECO:0000255|PROSITE- ProRule:PRU00383}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CCTTTAAGTCTTTTTACCTCC	0.383																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(5230-5232)Aga>Gga		ADAM metallopeptidase with thrombospondin type 1 motif, 9							165	166	166					3																	64527264		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64527264T>C	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.5230A>G	3.37:g.64527264T>C	ENSP00000418735:p.Arg1744Gly					ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1716G	p.R1744G	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	34	5572	-		Lung NSC(201;0.00682)	1744			GON.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.5230A>G	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	T	1.241	-0.621453	0.03636	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.18338	2.22;2.22	5.75	0.439	0.16567	Peptidase M12B, GON-ADAMTSs (2);	0.331513	0.32231	N	0.006395	T	0.14399	0.0348	L	0.54323	1.7	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.28933	-1.0028	10	0.23302	T	0.38	.	9.8863	0.41264	0.0:0.0631:0.4741:0.4628	.	1716;1744	B7ZVX9;Q9P2N4	.;ATS9_HUMAN	G	1716;1744	ENSP00000295903:R1716G;ENSP00000418735:R1744G	ENSP00000295903:R1716G	R	-	1	2	ADAMTS9	64502304	0.189000	0.23263	0.000000	0.03702	0.239000	0.25481	0.350000	0.20079	-0.141000	0.11374	0.459000	0.35465	AGA		0.383	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			3	180	0	0	0	0.009096	0	3	180					C	64527264	T	C	64527264	3	2	198	1	0	0	0	0	1	0	0	0	273	1617	56	3	601	3	ADAMTS9	3	64527264	Missense_Mutation	SNP	T	TCGA-EL-A3CT-01A-12D-A202-08	15357301	64527264	133495166	15	4139											
KPNA1	3836	broad.mit.edu	37	chr3	122145978	122145978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaggccttttggtagatctCctggttttcatgactctgta	9	8	3	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr3:122145978C>T	ENST00000344337.6	-	14	1647	c.1471G>A	c.(1471-1473)Gag>Aag	p.E491K	RP11-299J3.8_ENST00000608756.1_RNA|KPNA1_ENST00000466923.1_5'UTR|RP11-299J3.8_ENST00000609469.1_RNA|RP11-299J3.8_ENST00000608015.1_RNA|RP11-299J3.8_ENST00000608346.1_RNA	NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	491					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		TGGTAGATCTCCTGGTTTTCA	0.378																																					Melanoma(12;340 801 11196 19797)	ENST00000344337.6																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21						c.(1471-1473)Gag>Aag		karyopherin alpha 1 (importin alpha 5)							124	112	116					3																	122145978		2203	4300	6503	SO:0001583	missense	3836				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr3:122145978C>T	S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"Importins", "Armadillo repeat containing"	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.1471G>A	3.37:g.122145978C>T	ENSP00000343701:p.Glu491Lys					KPNA1_ENST00000466923.1_5'UTR	p.E491K	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN		GBM - Glioblastoma multiforme(114;0.0898)	14	1647	-			491					D3DN93|Q6IBQ9|Q9BQ56	Missense_Mutation	SNP	ENST00000344337.6	37	c.1471G>A	CCDS3013.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582247	0.65992	.	.	ENSG00000114030	ENST00000344337	T	0.35236	1.32	5.43	5.43	0.79202	Armadillo-like helical (1);Armadillo-type fold (1);	0.045845	0.85682	D	0.000000	T	0.45418	0.1341	M	0.73430	2.235	0.80722	D	1	P	0.40107	0.703	B	0.40982	0.345	T	0.42616	-0.9441	10	0.41790	T	0.15	-7.7822	18.414	0.90562	0.0:1.0:0.0:0.0	.	491	P52294	IMA1_HUMAN	K	491	ENSP00000343701:E491K	ENSP00000343701:E491K	E	-	1	0	KPNA1	123628668	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.320000	0.79064	2.827000	0.97445	0.650000	0.86243	GAG		0.378	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355740.1	NM_002264		16	55	0	0	0	0.007413	0	16	55					T	122145978	C	T	122145978	3	4	198	1	0	0	0	0	1	0	0	0	8429	864	30	2	149	2	KPNA1	3	122145978	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	57618714	122145978	75876452	16	4140											
ALG3	10195	broad.mit.edu	37	chr3	183966696	183966696	+	Silent	SNP	G	G	A													tctgcctgggccgcggaaccGgaccggccgcgtttccgcag							TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr3:183966696G>A	ENST00000397676.3	-	1	63	c.33C>T	c.(31-33)tcC>tcT	p.S11S	ECE2_ENST00000402825.3_5'Flank|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000418734.2_5'UTR|ALG3_ENST00000455059.1_Intron|ALG3_ENST00000445626.2_Intron|ECE2_ENST00000324557.4_5'Flank	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	11					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|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)	alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925)			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCGCGGAACCGGACCGGCCGC	0.697																																						ENST00000397676.3																			0				kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						c.(31-33)tcC>tcT		ALG3, alpha-1,3- mannosyltransferase							5	6	6					3																	183966696		1720	3850	5570	SO:0001819	synonymous_variant	10195				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity	g.chr3:183966696G>A	BC002839	CCDS46967.1, CCDS46968.1	3q27.3	2013-02-26	2013-02-26		ENSG00000214160	ENSG00000214160	2.4.1.258	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	23056	protein-coding gene	gene with protein product	"carbohydrate deficient glycoprotein syndrome type IV", "dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase", "dol-P-Man dependent alpha-1,3- mannosyltransferase"	608750	"asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)", "asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)"			1058125	Standard	NM_005787		Approved	NOT56L, Not56, CDGS4, D16Ertd36e	uc003fne.2	Q92685	OTTHUMG00000156823	ENST00000397676.3:c.33C>T	3.37:g.183966696G>A						EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000445626.2_Intron|ALG3_ENST00000455059.1_Intron|ALG3_ENST00000418734.2_5'UTR	p.S11S	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		1	63	-	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		11					A8JZZ6|Q9BT71	Silent	SNP	ENST00000397676.3	37	c.33C>T	CCDS46968.1	.	.	.	.	.	.	.	.	.	.	G	9.150	1.016152	0.19355	.	.	ENSG00000214160	ENST00000446569	.	.	.	5.6	-11.2	0.00127	.	.	.	.	.	T	0.19485	0.0468	.	.	.	0.27121	N	0.962132	.	.	.	.	.	.	T	0.06356	-1.0831	4	.	.	.	0.5995	4.405	0.11406	0.1315:0.3693:0.3274:0.1717	.	.	.	.	W	10	.	.	R	-	1	2	ALG3	185449390	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-4.187000	0.00278	-4.194000	0.00066	-0.894000	0.02916	CGG		0.697	ALG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346033.1	NM_005787		4	7	0	0	0	0.014758	0	4	7					A	183966696	G	A	183966696	2	1	198	1	0	0	0	0	0	0	0	1	520	1103	39	1		1	ALG3	3	183966696	Silent	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	61820718	183966696	14055734	17	4141	22	2									
ALG3	10195	broad.mit.edu	37	chr3	183966697	183966697	+	Missense_Mutation	SNP	G	G	A													ctgcctgggccgcggaaccgGaccggccgcgtttccgcagc							TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr3:183966697G>A	ENST00000397676.3	-	1	62	c.32C>T	c.(31-33)tCc>tTc	p.S11F	ECE2_ENST00000402825.3_5'Flank|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000418734.2_5'UTR|ALG3_ENST00000455059.1_Intron|ALG3_ENST00000445626.2_Intron|ECE2_ENST00000324557.4_5'Flank	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	11					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|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)	alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925)			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGCGGAACCGGACCGGCCGCG	0.697																																						ENST00000397676.3																			0				kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						c.(31-33)tCc>tTc		ALG3, alpha-1,3- mannosyltransferase							5	6	6					3																	183966697		1724	3853	5577	SO:0001583	missense	10195				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity	g.chr3:183966697G>A	BC002839	CCDS46967.1, CCDS46968.1	3q27.3	2013-02-26	2013-02-26		ENSG00000214160	ENSG00000214160	2.4.1.258	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	23056	protein-coding gene	gene with protein product	"carbohydrate deficient glycoprotein syndrome type IV", "dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase", "dol-P-Man dependent alpha-1,3- mannosyltransferase"	608750	"asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)", "asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)"			1058125	Standard	NM_005787		Approved	NOT56L, Not56, CDGS4, D16Ertd36e	uc003fne.2	Q92685	OTTHUMG00000156823	ENST00000397676.3:c.32C>T	3.37:g.183966697G>A	ENSP00000380793:p.Ser11Phe					EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000445626.2_Intron|ALG3_ENST00000455059.1_Intron|ALG3_ENST00000418734.2_5'UTR	p.S11F	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		1	62	-	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		11					A8JZZ6|Q9BT71	Missense_Mutation	SNP	ENST00000397676.3	37	c.32C>T	CCDS46968.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.841320	0.32513	.	.	ENSG00000214160	ENST00000397676	D	0.87887	-2.31	5.6	3.76	0.43208	.	0.974484	0.08272	U	0.971316	T	0.75324	0.3834	N	0.08118	0	0.31680	N	0.643211	B	0.26876	0.162	B	0.23275	0.045	T	0.70000	-0.4992	10	0.56958	D	0.05	0.5995	8.6764	0.34181	0.0:0.149:0.5432:0.3079	.	11	Q92685	ALG3_HUMAN	F	11	ENSP00000380793:S11F	ENSP00000380793:S11F	S	-	2	0	ALG3	185449391	0.001000	0.12720	0.066000	0.19879	0.110000	0.19582	0.468000	0.22051	0.678000	0.31325	0.650000	0.86243	TCC		0.697	ALG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346033.1	NM_005787		4	7	0	0	0	0.014758	0	4	7					A	183966697	G	A	183966697	3	1	198	1	0	0	0	0	1	0	0	0	520	1174	41	2	1320	2	ALG3	3	183966697	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	1	183966697	14055733	18	4142	22	2									
ZNF721	170960	broad.mit.edu	37	chr4	435626	435626	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tatgcgcataaagatttgcaGactgtctaaaggttttgcca	9	7	1	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr4:435626G>A	ENST00000338977.5	-	2	2642	c.2594C>T	c.(2593-2595)tCt>tTt	p.S865F	ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.S877F|ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA			Q8TF20	ZN721_HUMAN	zinc finger protein 721	865					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(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						AAGATTTGCAGACTGTCTAAA	0.403																																						ENST00000338977.5																			0				endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						c.(2593-2595)tCt>tTt		zinc finger protein 721							68	71	70					4																	435626		2058	4228	6286	SO:0001583	missense	170960							g.chr4:435626G>A	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"Zinc fingers, C2H2-type", "-"	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.2594C>T	4.37:g.435626G>A	ENSP00000340524:p.Ser865Phe					ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.S877F	p.S865F							2	2642	-								Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37	c.2594C>T		.	.	.	.	.	.	.	.	.	.	G	1.485	-0.556216	0.03967	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.29397	1.57;1.57	0.539	-1.08	0.09936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29028	0.0721	M	0.72624	2.21	0.09310	N	1	P;P;D	0.56035	0.676;0.956;0.974	P;B;P	0.45558	0.485;0.271;0.46	T	0.21552	-1.0242	9	0.21540	T	0.41	.	4.2358	0.10625	0.0:1.0E-4:0.3526:0.6473	.	865;877;877	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	F	865;877	ENSP00000340524:S865F;ENSP00000428878:S877F	ENSP00000340524:S865F	S	-	2	0	ZNF721	425626	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-2.315000	0.01124	-0.579000	0.05952	0.205000	0.17691	TCT		0.403	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		15	52	0	0	0	0.020292	0	15	52					A	435626	G	A	435626	3	1	198	1	0	0	0	0	1	0	0	0	18119	942	33	2	145	2	ZNF721	4	435626	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08		435626	190718650	19	4143											
NAAA	27163	broad.mit.edu	37	chr4	76861902	76861902	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agggccccagctcacccgatGacttgcgccatcgcggcgcg	13	17	1	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr4:76861902G>A	ENST00000286733.4	-	1	302	c.201C>T	c.(199-201)gtC>gtT	p.V67V	NAAA_ENST00000399497.3_Silent_p.V67V|NAAA_ENST00000505594.1_5'Flank|NAAA_ENST00000507956.1_Silent_p.V67V|NAAA_ENST00000507187.2_Silent_p.V67V	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase	67					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						CTCACCCGATGACTTGCGCCA	0.687																																						ENST00000286733.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						c.(199-201)gtC>gtT		N-acylethanolamine acid amidase							12	13	13					4																	76861902		1904	4058	5962	SO:0001819	synonymous_variant	27163				lipid metabolic process	lysosome	hydrolase activity	g.chr4:76861902G>A	M92449	CCDS43239.1	4q21.1	2011-09-23	2008-04-24	2008-04-24	ENSG00000138744	ENSG00000138744	3.5.1.-		736	protein-coding gene	gene with protein product		607469	"N-acylsphingosine amidohydrolase (acid ceramidase)-like"	ASAHL		10610717, 1446826	Standard	NM_001042402		Approved		uc003hjb.3	Q02083	OTTHUMG00000160855	ENST00000286733.4:c.201C>T	4.37:g.76861902G>A						NAAA_ENST00000399497.3_Silent_p.V67V|NAAA_ENST00000507187.2_Silent_p.V67V|NAAA_ENST00000507956.1_Silent_p.V67V	p.V67V	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN			1	302	-			67					Q5KTF2|Q96EY2|Q9BRA8	Silent	SNP	ENST00000286733.4	37	c.201C>T	CCDS43239.1																																																																																				0.687	NAAA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362843.4			17	24	0	0	0	0.008871	0	17	24					A	76861902	G	A	76861902	2	1	198	1	0	0	0	0	0	0	0	1	10127	1277	45	2		2	NAAA	4	76861902	Silent	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	76426276	76861902	114292374	20	4144											
PELO	53918	broad.mit.edu	37	chr5	52096595	52096595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtgggatagtgtggtactgGagcgcatcgagcaggcctgt	17	7	0	0			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr5:52096595G>A	ENST00000274311.2	+	2	1352	c.367G>A	c.(367-369)Gag>Aag	p.E123K	ITGA1_ENST00000282588.6_Intron|PELO_ENST00000506949.1_Intron|ITGA1_ENST00000504086.1_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	123					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA catabolic process, non-stop decay (GO:0070481)|RNA surveillance (GO:0071025)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				TGTGGTACTGGAGCGCATCGA	0.587																																						ENST00000274311.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11						c.(367-369)Gag>Aag		pelota homolog (Drosophila)							63	59	61					5																	52096595		2203	4300	6503	SO:0001583	missense	53918				cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding	g.chr5:52096595G>A		CCDS3956.1	5q11.2	2008-07-18	2001-11-28		ENSG00000152684	ENSG00000152684			8829	protein-coding gene	gene with protein product		605757	"pelota (Drosophila) homolog"			11060452	Standard	NM_015946		Approved		uc003jos.3	Q9BRX2	OTTHUMG00000096973	ENST00000274311.2:c.367G>A	5.37:g.52096595G>A	ENSP00000274311:p.Glu123Lys					ITGA1_ENST00000504086.1_Intron|PELO_ENST00000506949.1_Intron|ITGA1_ENST00000282588.6_Intron	p.E123K	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN			2	1352	+		Lung NSC(810;4.94e-05)|Breast(144;0.0848)	123					Q9GZS6|Q9Y306	Missense_Mutation	SNP	ENST00000274311.2	37	c.367G>A	CCDS3956.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030565	0.75504	.	.	ENSG00000152684	ENST00000274311	T	0.45276	0.9	5.66	4.74	0.60224	eRF1 domain 1/Pelota-like (1);	0.063541	0.64402	U	0.000008	T	0.46405	0.1391	M	0.80982	2.52	0.58432	D	0.999995	B	0.25169	0.119	B	0.25614	0.062	T	0.41822	-0.9487	10	0.26408	T	0.33	-19.2634	15.0742	0.72063	0.0:0.0:0.8574:0.1425	.	123	Q9BRX2	PELO_HUMAN	K	123	ENSP00000274311:E123K	ENSP00000274311:E123K	E	+	1	0	PELO	52132352	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.047000	0.76599	2.665000	0.90641	0.563000	0.77884	GAG		0.587	PELO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214040.1	NM_015946		16	55	0	0	0	0.028581	0	16	55					A	52096595	G	A	52096595	3	1	198	1	0	0	0	0	1	0	0	0	11724	1175	41	2	369	2	PELO	5	52096595	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08		52096595	128818665	21	4145											
PCDHGA12	26025	broad.mit.edu	37	chr5	140810404	140810404	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggactctgtgggagacCggatgcacccagatacgcta	14	11	1	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr5:140810404C>T	ENST00000252085.3	+	1	220	c.78C>T	c.(76-78)acC>acT	p.T26T	PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB8P_ENST00000502926.1_RNA|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	26					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGGGAGACCGGATGCACCC	0.582																																						ENST00000252085.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58						c.(76-78)acC>acT									83	94	90					5																	140810404		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140810404C>T	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"Cadherins / Protocadherins : Clustered"	8699	other	protocadherin	"fibroblast cadherin FIB3"	603059	"cadherin 21"	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.78C>T	5.37:g.140810404C>T						PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron	p.T26T	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	220	+								O15100|Q6UW70|Q9Y5D7	Silent	SNP	ENST00000252085.3	37	c.78C>T	CCDS4260.1																																																																																				0.582	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		11	202	0	0	0	0.008291	0	11	202					T	140810404	C	T	140810404	2	4	198	1	0	0	0	0	0	0	0	1	11553	639	23	1		1	PCDHGA12	5	140810404	Silent	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	88713809	140810404	40104856	22	4146											
ODZ2	57451	broad.mit.edu	37	chr5	167553841	167553841	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggctggacaggcgcagcGtgtgaccagcgcgtgtgcca	18	11	0	1	rs375025819	byFrequency	TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr5:167553841G>A	ENST00000518659.1	+	12	2331	c.2292G>A	c.(2290-2292)gcG>gcA	p.A764A	TENM2_ENST00000545108.1_Silent_p.A764A|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000520394.1_Silent_p.A532A|TENM2_ENST00000403607.2_Silent_p.A597A|TENM2_ENST00000519204.1_Silent_p.A643A	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	764	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CAGGCGCAGCGTGTGACCAGC	0.587													G|||	2	0.000399361	0.0015	0	5008	,	,		15218	0		0	False		,,,				2504	0					ENST00000519204.1																			0											c.(1927-1929)gcG>gcA		teneurin transmembrane protein 2		G		6,4094		0,6,2044	44	50	48		2292	-0.9	1.0	5		48	1,8355		0,1,4177	no	coding-synonymous	ODZ2	NM_001122679.1		0,7,6221	AA,AG,GG		0.012,0.1463,0.0562		764/2766	167553841	7,12449	2050	4178	6228	SO:0001819	synonymous_variant	57451							g.chr5:167553841G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.2292G>A	5.37:g.167553841G>A						TENM2_ENST00000403607.2_Silent_p.A597A|TENM2_ENST00000545108.1_Silent_p.A764A|TENM2_ENST00000520394.1_Silent_p.A532A|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000518659.1_Silent_p.A764A	p.A643A							11	2047	+								Q9ULU2	Silent	SNP	ENST00000518659.1	37	c.1929G>A																																																																																					0.587	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		4	30	0	0	0	0.009096	0	4	30					A	167553841	G	A	167553841	2	1	198	1	0	0	0	0	0	0	0	1	10835	1132	40	1		1	ODZ2	5	167553841	Silent	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	26743437	167553841	13361419	23	4147											
WWC1	23286	broad.mit.edu	37	chr5	167887657	167887657	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgacttttctcttgcagctGaatcggagtgatagtgacag	11	7	1	4			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr5:167887657G>A	ENST00000265293.4	+	20	3328	c.2826G>A	c.(2824-2826)ctG>ctA	p.L942L	WWC1_ENST00000521089.1_Silent_p.L942L|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	942	Interaction with histone H3.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		TCTTGCAGCTGAATCGGAGTG	0.517																																						ENST00000265293.4																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43						c.(2824-2826)ctG>ctA		WW and C2 domain containing 1							96	95	95					5																	167887657		2203	4300	6503	SO:0001819	synonymous_variant	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167887657G>A	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"WW, C2 and coiled-coil domain containing"	29435	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 168"	610533	"WW, C2 and coiled-coil domain containing 1"			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.2826G>A	5.37:g.167887657G>A						WWC1_ENST00000521089.1_Silent_p.L942L|WWC1_ENST00000522140.1_3'UTR	p.L942L	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	20	3328	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	942			Interaction with histone H3.		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Silent	SNP	ENST00000265293.4	37	c.2826G>A	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.006243	0.35415	.	.	ENSG00000113645	ENST00000393895;ENST00000524228	.	.	.	5.83	4.04	0.47022	.	.	.	.	.	T	0.58793	0.2147	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54214	-0.8327	4	.	.	.	.	8.5137	0.33233	0.1335:0.0:0.7412:0.1253	.	.	.	.	K	904;719	.	.	E	+	1	0	WWC1	167820235	0.968000	0.33430	0.998000	0.56505	0.990000	0.78478	0.084000	0.14891	0.785000	0.33685	0.650000	0.86243	GAA		0.517	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		16	37	0	0	0	0.007413	0	16	37					A	167887657	G	A	167887657	2	1	198	1	0	0	0	0	0	0	0	1	17408	1277	45	2		2	WWC1	5	167887657	Silent	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	333816	167887657	13027603	24	4148											
GFOD1	54438	broad.mit.edu	37	chr6	13487069	13487069	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ccctcgtctttcagcagcggGatgatgacacgggccgtgag	14	12	2	3			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:13487069G>C	ENST00000379287.3	-	1	718	c.54C>G	c.(52-54)atC>atG	p.I18M	GFOD1_ENST00000379278.3_5'Flank|GFOD1_ENST00000603223.1_Missense_Mutation_p.I18M|AL583828.1_ENST00000558378.1_5'Flank|GFOD1-AS1_ENST00000446001.1_RNA	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	18						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			TCAGCAGCGGGATGATGACAC	0.647																																						ENST00000379287.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18						c.(52-54)atC>atG		glucose-fructose oxidoreductase domain containing 1							69	64	66					6																	13487069		2203	4300	6503	SO:0001583	missense	54438					extracellular region	binding|oxidoreductase activity	g.chr6:13487069G>C	AK000337	CCDS4524.1, CCDS56397.1, CCDS64351.1	6p24.1-p23	2013-09-19			ENSG00000145990	ENSG00000145990			21096	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 114"	C6orf114			Standard	NM_018988		Approved	FLJ20330, ADG-90	uc003nat.2	Q9NXC2	OTTHUMG00000014276	ENST00000379287.3:c.54C>G	6.37:g.13487069G>C	ENSP00000368589:p.Ile18Met					GFOD1-AS1_ENST00000446001.1_RNA|GFOD1_ENST00000603223.1_Missense_Mutation_p.I18M	p.I18M	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)		1	718	-	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	18					A8E4L6|Q5T058|Q96JD4|Q9H5K2	Missense_Mutation	SNP	ENST00000379287.3	37	c.54C>G	CCDS4524.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.804066	0.70682	.	.	ENSG00000145990	ENST00000379287	T	0.24350	1.86	4.36	4.36	0.52297	Oxidoreductase, N-terminal (1);NAD(P)-binding domain (1);	0.190598	0.45867	D	0.000337	T	0.41858	0.1177	M	0.84326	2.69	0.39538	D	0.968777	P	0.44877	0.845	P	0.62298	0.9	T	0.35400	-0.9790	10	0.51188	T	0.08	-26.9763	12.3539	0.55163	0.0:0.1717:0.8283:0.0	.	18	Q9NXC2	GFOD1_HUMAN	M	18	ENSP00000368589:I18M	ENSP00000368589:I18M	I	-	3	3	GFOD1	13595048	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.705000	0.25675	2.255000	0.74692	0.536000	0.68110	ATC		0.647	GFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039902.1	NM_018988		16	105	0	0	0	0.028581	0	16	105					C	13487069	G	C	13487069	3	2	198	1	0	0	0	0	1	0	0	0	6343	1164	41	4	1126	4	GFOD1	6	13487069	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08		13487069	157627998	25	4149											
HIST1H3E	8353	broad.mit.edu	37	chr6	26225757	26225757	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accatcatgcctaaagacatCcagcttgcccgccgcattcg	7	16	1	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:26225757C>T	ENST00000360408.1	+	1	375	c.375C>T	c.(373-375)atC>atT	p.I125I		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	125					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				CTAAAGACATCCAGCTTGCCC	0.542											OREG0017240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000360408.1																			0				endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8						c.(373-375)atC>atT		histone cluster 1, H3e							85	88	87					6																	26225757		2203	4300	6503	SO:0001819	synonymous_variant	8353				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26225757C>T	M60746	CCDS4596.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196966	ENSG00000274750		"Histones / Replication-dependent"	4769	protein-coding gene	gene with protein product		602813	"H3 histone family, member D", "histone 1, H3e"	H3FD		1916825, 12408966	Standard	NM_003532		Approved	H3/d, H3.1	uc003nhc.4	P68431	OTTHUMG00000014434	ENST00000360408.1:c.375C>T	6.37:g.26225757C>T			OREG0017240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	785		p.I125I	NM_003532.2	NP_003523.1	P68431	H31_HUMAN			1	375	+		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)	125					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000360408.1	37	c.375C>T	CCDS4596.1																																																																																				0.542	HIST1H3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040097.1	NM_003532		25	88	0	0	0	0.010818	0	25	88					T	26225757	C	T	26225757	2	4	198	1	0	0	0	0	0	0	0	1	7159	845	30	2		2	HIST1H3E	6	26225757	Silent	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	12738688	26225757	144889310	26	4150											
OR5V1	81696	broad.mit.edu	37	chr6	29323725	29323725	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttctttgagaggaggtgcAccatcatctgggggacattg	13	7	3	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:29323725A>G	ENST00000377154.1	-	4	547	c.248T>C	c.(247-249)gTg>gCg	p.V83A	OR5V1_ENST00000543825.1_Missense_Mutation_p.V83A			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	83						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V83A(1)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GAGGAGGTGCACCATCATCTG	0.433																																					Ovarian(32;43 883 21137 32120 42650)	ENST00000377154.1																			1	Substitution - Missense(1)	p.V83A(1)	lung(1)	breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(247-249)gTg>gCg		olfactory receptor, family 5, subfamily V, member 1							113	108	110					6																	29323725		2203	4299	6502	SO:0001583	missense	81696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29323725A>G		CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"GPCR / Class A : Olfactory receptors"	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.248T>C	6.37:g.29323725A>G	ENSP00000366359:p.Val83Ala					OR5V1_ENST00000543825.1_Missense_Mutation_p.V83A	p.V83A			Q9UGF6	OR5V1_HUMAN			4	547	-			83					A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Missense_Mutation	SNP	ENST00000377154.1	37	c.248T>C	CCDS4657.1	.	.	.	.	.	.	.	.	.	.	A	5.814	0.334415	0.11013	.	.	ENSG00000243729	ENST00000377154;ENST00000377151;ENST00000543825	T;T	0.00388	7.59;7.59	4.22	1.54	0.23209	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30193	N	0.010199	T	0.00039	0.0001	N	0.21508	0.67	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.38112	-0.9676	10	0.10377	T	0.69	-3.5415	3.2304	0.06746	0.6348:0.1428:0.084:0.1384	.	83	Q9UGF6	OR5V1_HUMAN	A	83	ENSP00000366359:V83A;ENSP00000443309:V83A	ENSP00000366356:V83A	V	-	2	0	OR5V1	29431704	0.000000	0.05858	0.999000	0.59377	0.438000	0.31896	-5.120000	0.00149	0.736000	0.32559	0.438000	0.28831	GTG		0.433	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076398.3			17	147	0	0	0	0.0333	0	17	147					G	29323725	A	G	29323725	3	3	198	1	0	0	0	0	1	0	0	0	11184	159	6	3	720	3	OR5V1	6	29323725	Missense_Mutation	SNP	A	TCGA-EL-A3CT-01A-12D-A202-08	3097968	29323725	141791342	27	4151											
POU5F1	5460	broad.mit.edu	37	chr6	31133468	31133468	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cggcagatggtcgtttggctGaataccttccctgggggagg	16	9	0	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:31133468G>A	ENST00000259915.8	-	3	609	c.537C>T	c.(535-537)ttC>ttT	p.F179F	POU5F1_ENST00000471529.2_5'UTR|POU5F1_ENST00000512818.1_5'UTR|POU5F1_ENST00000606567.1_Silent_p.F9F|POU5F1_ENST00000441888.3_5'UTR|POU5F1_ENST00000513407.1_5'UTR	NM_002701.4	NP_002692.2	Q01860	PO5F1_HUMAN	POU class 5 homeobox 1	179	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				anatomical structure morphogenesis (GO:0009653)|blastocyst development (GO:0001824)|BMP signaling pathway involved in heart induction (GO:0003130)|cardiac cell fate determination (GO:0060913)|cell fate commitment involved in formation of primary germ layer (GO:0060795)|endodermal cell fate specification (GO:0001714)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of gene silencing by miRNA (GO:0060965)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of asymmetric cell division (GO:0009786)|regulation of gene expression (GO:0010468)|regulation of heart induction by regulation of canonical Wnt signaling pathway (GO:0090081)|regulation of methylation-dependent chromatin silencing (GO:0090308)|regulation of transcription, DNA-templated (GO:0006355)|response to wounding (GO:0009611)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|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)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)		EWSR1/POU5F1(10)	breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13					Dopamine(DB00988)|Norepinephrine(DB00368)	TCGTTTGGCTGAATACCTTCC	0.557			T	EWSR1	sarcoma																																	ENST00000259915.8				Dom	yes		6	6p21.31	5460	T	"POU domain, class 5, transcription factor 1"			M	EWSR1		sarcoma	EWSR1/POU5F1(10)	0				breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13						c.(535-537)ttC>ttT		POU class 5 homeobox 1							22	24	23					6																	31133468		1511	2709	4220	SO:0001819	synonymous_variant	5460				anatomical structure morphogenesis|blastocyst development|BMP signaling pathway involved in heart induction|cardiac cell fate determination|cell fate commitment involved in formation of primary germ layers|mRNA transcription from RNA polymerase II promoter|negative regulation of gene silencing by miRNA|positive regulation of catenin import into nucleus|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|regulation of asymmetric cell division|regulation of heart induction by regulation of canonical Wnt receptor signaling pathway|regulation of methylation-dependent chromatin silencing|response to wounding|somatic stem cell maintenance	cytosol|nucleoplasm|transcription factor complex	miRNA binding|sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr6:31133468G>A	Z11898	CCDS34391.1, CCDS47398.1, CCDS47398.2, CCDS75420.1	6p21.33	2011-06-20	2007-07-13		ENSG00000204531	ENSG00000204531		"Homeoboxes / POU class"	9221	protein-coding gene	gene with protein product		164177	"POU domain class 5, transcription factor 1"	OTF3		1408763	Standard	NM_002701		Approved	OCT3, Oct4, MGC22487	uc003nsv.3	Q01860	OTTHUMG00000031206	ENST00000259915.8:c.537C>T	6.37:g.31133468G>A						POU5F1_ENST00000606567.1_Silent_p.F9F|POU5F1_ENST00000513407.1_5'UTR|POU5F1_ENST00000512818.1_5'UTR|POU5F1_ENST00000441888.3_5'UTR|POU5F1_ENST00000471529.2_5'UTR	p.F179F	NM_002701.4	NP_002692.2	Q01860	PO5F1_HUMAN			3	609	-			179			POU-specific.		A6NCS1|A6NLL8|D2IYK4|P31359|Q15167|Q15168|Q16422|Q5STF3|Q5STF4	Silent	SNP	ENST00000259915.8	37	c.537C>T	CCDS34391.1																																																																																				0.557	POU5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076413.4	NM_002701		4	25	0	0	0	0.009096	0	4	25					A	31133468	G	A	31133468	2	1	198	1	0	0	0	0	0	0	0	1	12281	1281	45	2		2	POU5F1	6	31133468	Silent	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	1809743	31133468	139981599	28	4152											
NFKBIL1	534	broad.mit.edu	37	chr6	31516041	31516041	+	5'Flank	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtccgggcccaggccctcctCcagcgacacccaggcctcga	11	20	0	0			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:31516041C>T	ENST00000303892.5	-	0	0				ATP6V1G2-DDX39B_ENST00000376185.1_5'Flank|ATP6V1G2_ENST00000376151.4_5'Flank|NFKBIL1_ENST00000376145.4_Silent_p.L53L|NFKBIL1_ENST00000376148.4_Silent_p.L53L|ATP6V1G2_ENST00000483170.1_5'Flank|ATP6V1G2_ENST00000483251.1_5'Flank|ATP6V1G2-DDX39B_ENST00000475917.1_5'Flank	NM_130463.3|NM_138282.2	NP_569730.1|NP_612139.1	O95670	VATG2_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2						cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5						AGGCCCTCCTCCAGCGACACC	0.682																																						ENST00000376148.4																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						c.(157-159)ctC>ctT		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1							44	36	39					6																	31516041		1511	2709	4220	SO:0001631	upstream_gene_variant	4795				cytoplasmic sequestering of transcription factor		protein binding	g.chr6:31516041C>T	Y14768	CCDS4698.1, CCDS4699.1, CCDS56413.1	6p21.3	2011-03-29	2006-01-13	2002-05-10	ENSG00000213760	ENSG00000213760		"ATPases / V-type"	862	protein-coding gene	gene with protein product		606853	"ATPase, H+ transporting, lysosomal (vacuolar proton pump)", "ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 2"	ATP6G, ATP6G2		10202016	Standard	NM_138282		Approved	Vma10, NG38, Em:AC004181.3	uc003nua.3	O95670	OTTHUMG00000166618		6.37:g.31516041C>T	Exception_encountered					NFKBIL1_ENST00000376145.4_Silent_p.L53L	p.L53L	NM_005007.3	NP_004998.3	Q9UBC1	IKBL1_HUMAN			2	273	+			53					B5MEF0|Q2L6F8|Q5HYU8|Q5RJ63	Silent	SNP	ENST00000303892.5	37	c.159C>T	CCDS4698.1	.	.	.	.	.	.	.	.	.	.	c	16.89	3.247290	0.59103	.	.	ENSG00000213760	ENST00000415099	T	0.59364	0.27	5.18	-1.06	0.10002	.	.	.	.	.	T	0.14399	0.0348	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26815	-1.0092	6	0.02654	T	1	-10.6034	9.8545	0.41077	0.0:0.3781:0.5302:0.0917	.	.	.	.	E	55	ENSP00000390148:G55E	ENSP00000390148:G55E	G	-	2	0	ATP6V1G2	31624020	0.805000	0.28982	0.997000	0.53966	0.997000	0.91878	-0.174000	0.09839	-0.110000	0.12022	0.651000	0.88453	GGA		0.682	ATP6V1G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076399.3	NM_130463		20	57	0	0	0	0.016522	0	20	57					T	31516041	C	T	31516041	1	4	198	0	1	0	0	0	0	0	0	0	10381	842	30	2		2	NFKBIL1	6	31516041	5'Flank	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	382573	31516041	139599026	29	4153											
C6orf138	442213	broad.mit.edu	37	chr6	47847599	47847599	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaataggcatctgctatcctGtctttgaagggcaagttctc	10	9	3	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:47847599G>C	ENST00000339488.4	-	3	1014	c.981C>G	c.(979-981)gaC>gaG	p.D327E		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	327	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.					integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										CTGCTATCCTGTCTTTGAAGG	0.433																																						ENST00000339488.4																			0											c.(979-981)gaC>gaG		patched domain containing 4							34	35	35					6																	47847599		2203	4299	6502	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47847599G>C		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.981C>G	6.37:g.47847599G>C	ENSP00000341914:p.Asp327Glu						p.D327E	NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN			3	1014	-			327			SSD.		B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.981C>G	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	G	0.829	-0.745971	0.03065	.	.	ENSG00000244694	ENST00000339488	D	0.90676	-2.71	5.25	5.25	0.73442	Sterol-sensing domain (1);	.	.	.	.	T	0.61602	0.2360	N	0.01679	-0.765	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.66504	-0.5907	9	0.02654	T	1	.	18.8631	0.92281	0.0:0.0:1.0:0.0	.	327	Q6ZW05	CF138_HUMAN	E	327	ENSP00000341914:D327E	ENSP00000341914:D327E	D	-	3	2	C6orf138	47955558	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.517000	0.35867	2.473000	0.83533	0.650000	0.86243	GAC		0.433	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		2	16	0	0	0	0.004672	0	2	16					C	47847599	G	C	47847599	3	2	198	1	0	0	0	0	1	0	0	0	2332	1368	48	4	1563	4	C6orf138	6	47847599	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	16331558	47847599	123267468	30	4154											
KIAA1244	57221	broad.mit.edu	37	chr6	138583995	138583995	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aactgctgcttctgcgccttGaggagctgaaggatggggct	15	9	1	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:138583995G>A	ENST00000251691.4	+	12	1541	c.1375G>A	c.(1375-1377)Gag>Aag	p.E459K		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TCTGCGCCTTGAGGAGCTGAA	0.612																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(1375-1377)Gag>Aag		KIAA1244							100	80	87					6																	138583995		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138583995G>A	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.1375G>A	6.37:g.138583995G>A	ENSP00000251691:p.Glu459Lys						p.E459K	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	12	1541	+	Breast(32;0.135)		459						Missense_Mutation	SNP	ENST00000251691.4	37	c.1375G>A	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.130896	0.77549	.	.	ENSG00000112379	ENST00000251691	T	0.19669	2.13	5.62	5.62	0.85841	.	0.179644	0.49305	D	0.000148	T	0.12987	0.0315	L	0.44542	1.39	0.51482	D	0.999924	B	0.31383	0.321	B	0.26770	0.073	T	0.02728	-1.1118	10	0.66056	D	0.02	-21.4056	19.6685	0.95901	0.0:0.0:1.0:0.0	.	459	Q5TH69	BIG3_HUMAN	K	459	ENSP00000251691:E459K	ENSP00000251691:E459K	E	+	1	0	KIAA1244	138625688	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	9.496000	0.97967	2.639000	0.89480	0.655000	0.94253	GAG		0.612	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		9	35	0	0	0	0.004482	0	9	35					A	138583995	G	A	138583995	3	1	198	1	0	0	0	0	1	0	0	0	8217	1291	45	2	1421	2	KIAA1244	6	138583995	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	90736396	138583995	32531072	31	4155											
RAB32	10981	broad.mit.edu	37	chr6	146875728	146875728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttgagagcagagaacaaatCccagtgttgctgatatatgg	11	7	0	3			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:146875728C>T	ENST00000367495.3	+	3	844	c.665C>T	c.(664-666)tCc>tTc	p.S222F		NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family	222					antigen processing and presentation (GO:0019882)|endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome maturation (GO:0090382)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		GAGAACAAATCCCAGTGTTGC	0.428																																						ENST00000367495.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8						c.(664-666)tCc>tTc		RAB32, member RAS oncogene family							126	127	126					6																	146875728		2203	4300	6503	SO:0001583	missense	10981				protein transport|small GTPase mediated signal transduction	mitochondrion	GTP binding	g.chr6:146875728C>T	U71127	CCDS5210.1	6q24.2	2010-08-20			ENSG00000118508	ENSG00000118508		"RAB, member RAS oncogene", "A-kinase anchor proteins"	9772	protein-coding gene	gene with protein product		612906					Standard	NM_006834		Approved		uc003qln.1	Q13637	OTTHUMG00000015755	ENST00000367495.3:c.665C>T	6.37:g.146875728C>T	ENSP00000356465:p.Ser222Phe						p.S222F	NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)	3	844	+		Ovarian(120;0.142)	222						Missense_Mutation	SNP	ENST00000367495.3	37	c.665C>T	CCDS5210.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.332102	0.41297	.	.	ENSG00000118508	ENST00000367495	T	0.72725	-0.68	5.79	5.79	0.91817	.	0.278885	0.42294	D	0.000726	T	0.42200	0.1192	N	0.19112	0.55	0.49389	D	0.999785	B	0.15719	0.014	B	0.18263	0.021	T	0.47289	-0.9129	10	0.59425	D	0.04	-8.703	10.4324	0.44415	0.0:0.8562:0.0:0.1438	.	222	Q13637	RAB32_HUMAN	F	222	ENSP00000356465:S222F	ENSP00000356465:S222F	S	+	2	0	RAB32	146917421	1.000000	0.71417	0.917000	0.36280	0.995000	0.86356	4.412000	0.59787	2.722000	0.93159	0.655000	0.94253	TCC		0.428	RAB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042579.1	NM_006834		10	162	0	0	0	0.008291	0	10	162					T	146875728	C	T	146875728	3	4	198	1	0	0	0	0	1	0	0	0	12921	855	30	2	675	2	RAB32	6	146875728	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	8291733	146875728	24239339	32	4156											
DYNLT1	6993	broad.mit.edu	37	chr6	159058168	159058168	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgaaaatcataccgtcagtaGagctgtcccagaagcaggaa	10	9	2	3			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:159058168G>A	ENST00000367089.3	-	4	293	c.263C>T	c.(262-264)tCt>tTt	p.S88F	DYNLT1_ENST00000367088.1_Missense_Mutation_p.S19F	NM_006519.2	NP_006510.1	P63172	DYLT1_HUMAN	dynein, light chain, Tctex-type 1	88	Interaction with GNB1. {ECO:0000250}.				establishment of mitotic spindle orientation (GO:0000132)|intracellular transport of viral protein in host cell (GO:0019060)|microtubule-dependent intracellular transport of viral material towards nucleus (GO:0075521)|mitotic nuclear division (GO:0007067)|negative regulation of neurogenesis (GO:0050768)|neuron projection morphogenesis (GO:0048812)|regulation of cytoskeleton organization (GO:0051493)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of Rac GTPase activity (GO:0032314)|viral entry into host cell (GO:0046718)	cytoplasmic dynein complex (GO:0005868)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)	identical protein binding (GO:0042802)|motor activity (GO:0003774)			lung(2)	2		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;4.02e-18)|BRCA - Breast invasive adenocarcinoma(81;9.53e-06)		ACCGTCAGTAGAGCTGTCCCA	0.363																																						ENST00000367088.1																			0				lung(2)	2						c.(55-57)tCt>tTt		dynein, light chain, Tctex-type 1							71	67	69					6																	159058168		2203	4300	6503	SO:0001583	missense	6993				cell division|establishment of mitotic spindle orientation|intracellular transport of viral proteins in host cell|mitosis|negative regulation of neurogenesis|regulation of G-protein coupled receptor protein signaling pathway	cytoplasmic dynein complex|Golgi apparatus|microtubule|spindle	identical protein binding|motor activity	g.chr6:159058168G>A	D50663	CCDS5257.1	6q25.2-q25.3	2008-02-05	2005-11-24	2005-11-24	ENSG00000146425	ENSG00000146425		"Cytoplasmic dyneins"	11697	protein-coding gene	gene with protein product		601554	"t-complex-associated-testis-expressed 1-like 1"	TCTEL1		8646886, 16260502	Standard	XM_005267117		Approved		uc003qrn.2	P63172	OTTHUMG00000015918	ENST00000367089.3:c.263C>T	6.37:g.159058168G>A	ENSP00000356056:p.Ser88Phe					DYNLT1_ENST00000367089.3_Missense_Mutation_p.S88F	p.S19F			P63172	DYLT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.02e-18)|BRCA - Breast invasive adenocarcinoma(81;9.53e-06)	2	2228	-		Breast(66;0.00519)|Ovarian(120;0.123)	88					Q15763|Q5VTU4	Missense_Mutation	SNP	ENST00000367089.3	37	c.56C>T	CCDS5257.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.200929	0.38905	.	.	ENSG00000146425	ENST00000367089;ENST00000367088	T;T	0.31769	1.48;1.48	5.11	4.22	0.49857	.	0.392819	0.28946	N	0.013626	T	0.17746	0.0426	L	0.52126	1.63	0.80722	D	1	B	0.06786	0.001	B	0.16289	0.015	T	0.07385	-1.0775	10	0.87932	D	0	-12.8219	15.0405	0.71788	0.0:0.0:0.8567:0.1433	.	88	P63172	DYLT1_HUMAN	F	88;19	ENSP00000356056:S88F;ENSP00000356055:S19F	ENSP00000356055:S19F	S	-	2	0	DYNLT1	158978156	1.000000	0.71417	0.844000	0.33320	0.620000	0.37586	5.242000	0.65389	1.240000	0.43803	0.655000	0.94253	TCT		0.363	DYNLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042881.1	NM_006519		9	51	0	0	0	0.008291	0	9	51					A	159058168	G	A	159058168	3	1	198	1	0	0	0	0	1	0	0	0	4852	942	33	2	86	2	DYNLT1	6	159058168	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	12182440	159058168	12056899	33	4157			1	11		2	2	19	G		5.639972e-05
DYNLT1	6993	broad.mit.edu	37	chr6	159058186	159058186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagagctgtcccagaagcagGaacttgctgtgtgtaatcca	11	9	0	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:159058186G>A	ENST00000367089.3	-	4	275	c.245C>T	c.(244-246)tCc>tTc	p.S82F	DYNLT1_ENST00000367088.1_Missense_Mutation_p.S13F	NM_006519.2	NP_006510.1	P63172	DYLT1_HUMAN	dynein, light chain, Tctex-type 1	82	Interaction with GNB1. {ECO:0000250}.				establishment of mitotic spindle orientation (GO:0000132)|intracellular transport of viral protein in host cell (GO:0019060)|microtubule-dependent intracellular transport of viral material towards nucleus (GO:0075521)|mitotic nuclear division (GO:0007067)|negative regulation of neurogenesis (GO:0050768)|neuron projection morphogenesis (GO:0048812)|regulation of cytoskeleton organization (GO:0051493)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of Rac GTPase activity (GO:0032314)|viral entry into host cell (GO:0046718)	cytoplasmic dynein complex (GO:0005868)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)	identical protein binding (GO:0042802)|motor activity (GO:0003774)			lung(2)	2		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;4.02e-18)|BRCA - Breast invasive adenocarcinoma(81;9.53e-06)		CCAGAAGCAGGAACTTGCTGT	0.368																																						ENST00000367088.1																			0				lung(2)	2						c.(37-39)tCc>tTc		dynein, light chain, Tctex-type 1							79	74	76					6																	159058186		2203	4300	6503	SO:0001583	missense	6993				cell division|establishment of mitotic spindle orientation|intracellular transport of viral proteins in host cell|mitosis|negative regulation of neurogenesis|regulation of G-protein coupled receptor protein signaling pathway	cytoplasmic dynein complex|Golgi apparatus|microtubule|spindle	identical protein binding|motor activity	g.chr6:159058186G>A	D50663	CCDS5257.1	6q25.2-q25.3	2008-02-05	2005-11-24	2005-11-24	ENSG00000146425	ENSG00000146425		"Cytoplasmic dyneins"	11697	protein-coding gene	gene with protein product		601554	"t-complex-associated-testis-expressed 1-like 1"	TCTEL1		8646886, 16260502	Standard	XM_005267117		Approved		uc003qrn.2	P63172	OTTHUMG00000015918	ENST00000367089.3:c.245C>T	6.37:g.159058186G>A	ENSP00000356056:p.Ser82Phe					DYNLT1_ENST00000367089.3_Missense_Mutation_p.S82F	p.S13F			P63172	DYLT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.02e-18)|BRCA - Breast invasive adenocarcinoma(81;9.53e-06)	2	2210	-		Breast(66;0.00519)|Ovarian(120;0.123)	82					Q15763|Q5VTU4	Missense_Mutation	SNP	ENST00000367089.3	37	c.38C>T	CCDS5257.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820451	0.90873	.	.	ENSG00000146425	ENST00000367089;ENST00000367088	T;T	0.33438	1.41;1.41	5.11	5.11	0.69529	.	0.054302	0.85682	D	0.000000	T	0.64605	0.2613	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.76879	-0.2796	10	0.87932	D	0	-40.5174	18.9189	0.92518	0.0:0.0:1.0:0.0	.	82	P63172	DYLT1_HUMAN	F	82;13	ENSP00000356056:S82F;ENSP00000356055:S13F	ENSP00000356055:S13F	S	-	2	0	DYNLT1	158978174	1.000000	0.71417	0.837000	0.33122	0.867000	0.49689	9.462000	0.97649	2.535000	0.85469	0.655000	0.94253	TCC		0.368	DYNLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042881.1	NM_006519		12	54	0	0	0	0.020292	0	12	54					A	159058186	G	A	159058186	3	1	198	1	0	0	0	0	1	0	0	0	4852	1174	41	2	104	2	DYNLT1	6	159058186	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	18	159058186	12056881	34	4158			1	11		2	2	19	G		5.639972e-05
EZR	7430	broad.mit.edu	37	chr6	159206498	159206498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattccttccttcacttggaGgaagaaaagtttctgggtga	11	7	2	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:159206498G>A	ENST00000367075.3	-	5	478	c.310C>T	c.(310-312)Ctc>Ttc	p.L104F	EZR_ENST00000476189.1_5'UTR|EZR_ENST00000337147.7_Missense_Mutation_p.L104F|EZR_ENST00000392177.4_Missense_Mutation_p.L72F	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	104	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TTCACTTGGAGGAAGAAAAGT	0.542			T	ROS1	NSCLC																																	ENST00000367075.3				Dom	yes		6	6q25.3	7430	T	ezrin			E	ROS1		NSCLC	EZR/ROS1(4)	0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15						c.(310-312)Ctc>Ttc		ezrin							103	83	90					6																	159206498		2203	4300	6503	SO:0001583	missense	7430				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding	g.chr6:159206498G>A	AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"A-kinase anchor proteins"	12691	protein-coding gene	gene with protein product	"cytovillin 2"	123900	"villin 2 (ezrin)"	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.310C>T	6.37:g.159206498G>A	ENSP00000356042:p.Leu104Phe					EZR_ENST00000476189.1_5'UTR|EZR_ENST00000392177.4_Missense_Mutation_p.L72F|EZR_ENST00000337147.7_Missense_Mutation_p.L104F	p.L104F	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)	5	478	-		Breast(66;0.000776)|Ovarian(120;0.0303)	104			FERM.		E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Missense_Mutation	SNP	ENST00000367075.3	37	c.310C>T	CCDS5258.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183724	0.78677	.	.	ENSG00000092820	ENST00000337147;ENST00000367075;ENST00000392177	T;T;T	0.79845	-1.31;-1.31;-1.31	4.34	4.34	0.51931	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.144727	0.48767	D	0.000173	D	0.93697	0.7986	H	0.99249	4.485	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.73708	0.966;0.981	D	0.96493	0.9365	10	0.87932	D	0	.	17.0524	0.86523	0.0:0.0:1.0:0.0	.	72;104	E7EQR4;P15311	.;EZRI_HUMAN	F	104;104;72	ENSP00000338934:L104F;ENSP00000356042:L104F;ENSP00000376016:L72F	ENSP00000338934:L104F	L	-	1	0	EZR	159126486	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.260000	0.72502	2.248000	0.74166	0.650000	0.86243	CTC		0.542	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042878.1	NM_003379		30	94	0	0	0	0.037714	0	30	94					A	159206498	G	A	159206498	3	1	198	1	0	0	0	0	1	0	0	0	5335	1000	35	2	1490	2	EZR	6	159206498	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	148312	159206498	11908569	35	4159											
FIGNL1	63979	broad.mit.edu	37	chr7	50514709	50514709	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttgtcactatctgtttgttGagatcctgccaaagttaaaa	7	8	2	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr7:50514709G>A	ENST00000419119.1	-	2	1830	c.277C>T	c.(277-279)Caa>Taa	p.Q93*	FIGNL1_ENST00000435566.1_Silent_p.L54L|FIGNL1_ENST00000356889.4_Nonsense_Mutation_p.Q93*|FIGNL1_ENST00000395556.2_Nonsense_Mutation_p.Q93*|FIGNL1_ENST00000433017.1_Nonsense_Mutation_p.Q93*			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	93					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TCTGTTTGTTGAGATCCTGCC	0.323																																						ENST00000419119.1																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(277-279)Caa>Taa		fidgetin-like 1							104	103	103					7																	50514709		2203	4300	6503	SO:0001587	stop_gained	63979				ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	g.chr7:50514709G>A	AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"ATPases / AAA-type"	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.277C>T	7.37:g.50514709G>A	ENSP00000410811:p.Gln93*					FIGNL1_ENST00000395556.2_Nonsense_Mutation_p.Q93*|FIGNL1_ENST00000435566.1_Silent_p.L54L|FIGNL1_ENST00000433017.1_Nonsense_Mutation_p.Q93*|FIGNL1_ENST00000356889.4_Nonsense_Mutation_p.Q93*	p.Q93*			Q6PIW4	FIGL1_HUMAN			2	1830	-	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)	93					D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Nonsense_Mutation	SNP	ENST00000419119.1	37	c.277C>T	CCDS5510.1	.	.	.	.	.	.	.	.	.	.	G	41	8.923951	0.99004	.	.	ENSG00000132436	ENST00000356889;ENST00000395556;ENST00000433017;ENST00000419119;ENST00000436590;ENST00000422854;ENST00000440350	.	.	.	5.16	5.16	0.70880	.	0.064959	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-5.4123	14.696	0.69121	0.0:0.0:0.8542:0.1458	.	.	.	.	X	93	.	ENSP00000349356:Q93X	Q	-	1	0	FIGNL1	50482203	1.000000	0.71417	0.982000	0.44146	0.956000	0.61745	6.124000	0.71620	2.564000	0.86499	0.563000	0.77884	CAA		0.323	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342579.1	NM_001042762		30	105	0	0	0	0.030593	0	30	105					A	50514709	G	A	50514709	4	1	198	1	0	0	0	0	0	1	0	0	5892	1299	45	2	1751	2	FIGNL1	7	50514709	Nonsense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08		50514709	108623954	36	4160											
PTPRZ1	5803	broad.mit.edu	37	chr7	121636594	121636594	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaccaaaccaagcatgaaTttttgacagatggctatcaa	8	8	1	3			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr7:121636594T>G	ENST00000393386.2	+	9	1498	c.1087T>G	c.(1087-1089)Ttt>Gtt	p.F363V	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.F363V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	363	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CAAGCATGAATTTTTGACAGA	0.363																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(1087-1089)Ttt>Gtt		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							162	157	159					7																	121636594		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121636594T>G	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.1087T>G	7.37:g.121636594T>G	ENSP00000377047:p.Phe363Val					PTPRZ1_ENST00000449182.1_Missense_Mutation_p.F363V	p.F363V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			9	1498	+			363			Fibronectin type-III.		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.1087T>G	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	T	16.67	3.186430	0.57909	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.56941	0.43;0.43	5.74	4.56	0.56223	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.165528	0.43416	N	0.000574	T	0.40119	0.1104	N	0.19112	0.55	0.31041	N	0.716287	B;B	0.21688	0.012;0.059	B;B	0.25614	0.018;0.062	T	0.47100	-0.9143	10	0.87932	D	0	.	12.9366	0.58319	0.0:0.0:0.1354:0.8646	.	363;363	C9JFM0;P23471	.;PTPRZ_HUMAN	V	363	ENSP00000377047:F363V;ENSP00000410000:F363V	ENSP00000377047:F363V	F	+	1	0	PTPRZ1	121423830	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	4.553000	0.60753	0.963000	0.38082	0.533000	0.62120	TTT		0.363	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		31	139	0	0	0	0.021022	0	31	139					G	121636594	T	G	121636594	3	3	198	1	0	0	0	0	1	0	0	0	12814	1493	52	5	1121	5	PTPRZ1	7	121636594	Missense_Mutation	SNP	T	TCGA-EL-A3CT-01A-12D-A202-08	71121885	121636594	37502069	37	4161											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		28	87	0	0	0	0.041601	0	28	87					T	140453136	A	T	140453136	3	4	198	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3CT-01A-12D-A202-08	18816542	140453136	18685527	38	4162											
GIMAP4	55303	broad.mit.edu	37	chr7	150269372	150269372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaccaagaagtgtgagaaaCgcagcagctcatggaaggaa	12	7	1	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr7:150269372C>T	ENST00000255945.2	+	3	389	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Missense_Mutation_p.R86C	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	72	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGTGAGAAACGCAGCAGCTC	0.478																																						ENST00000255945.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(214-216)Cgc>Tgc		GTPase, IMAP family member 4							106	92	97					7																	150269372		2203	4300	6503	SO:0001583	missense	55303						GTP binding	g.chr7:150269372C>T	AK001972	CCDS5904.1	7q36.1	2014-04-04			ENSG00000133574	ENSG00000133574		"GTPases, IMAP"	21872	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 1"	608087				15474311, 18701445	Standard	NM_018326		Approved	HIMAP4, FLJ11110, IMAP4, IAN1	uc003whl.3	Q9NUV9	OTTHUMG00000157475	ENST00000255945.2:c.214C>T	7.37:g.150269372C>T	ENSP00000255945:p.Arg72Cys					GIMAP4_ENST00000461940.1_Missense_Mutation_p.R86C|GIMAP4_ENST00000494750.1_3'UTR	p.R72C	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	389	+			72						Missense_Mutation	SNP	ENST00000255945.2	37	c.214C>T	CCDS5904.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.932607	0.52866	.	.	ENSG00000133574	ENST00000255945;ENST00000461940;ENST00000479232	T;T;T	0.61742	0.08;0.08;0.08	4.61	-6.86	0.01676	AIG1 (1);	1.439610	0.04402	N	0.364450	T	0.45637	0.1352	N	0.26130	0.795	0.09310	N	1	D;D	0.61697	0.99;0.981	P;B	0.47744	0.556;0.252	T	0.55108	-0.8192	10	0.54805	T	0.06	.	7.5758	0.27935	0.2509:0.5048:0.2443:0.0	.	86;72	G5E9W9;Q9NUV9	.;GIMA4_HUMAN	C	72;86;86	ENSP00000255945:R72C;ENSP00000419545:R86C;ENSP00000418615:R86C	ENSP00000255945:R72C	R	+	1	0	GIMAP4	149900305	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.798000	0.04565	-1.095000	0.03050	-0.165000	0.13383	CGC		0.478	GIMAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348927.1	NM_018326		9	53	0	0	0	0.006214	0	9	53					T	150269372	C	T	150269372	3	4	198	1	0	0	0	0	1	0	0	0	6381	536	19	1	220	1	GIMAP4	7	150269372	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	9816236	150269372	8869291	39	4163											
CDK5	1020	broad.mit.edu	37	chr7	150753685	150753685	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctttacaatctcaggatcGaggtcaccattgcaactgtc	7	12	2	0			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr7:150753685G>A	ENST00000485972.1	-	5	975	c.294C>T	c.(292-294)ctC>ctT	p.L98L	SLC4A2_ENST00000413384.2_5'Flank|CDK5_ENST00000297518.4_Silent_p.L98L|SLC4A2_ENST00000485713.1_5'Flank	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5	98	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|behavioral response to cocaine (GO:0048148)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|central nervous system neuron development (GO:0021954)|cerebellar cortex formation (GO:0021697)|corpus callosum development (GO:0022038)|cortical actin cytoskeleton organization (GO:0030866)|dendrite morphogenesis (GO:0048813)|embryo development (GO:0009790)|hippocampus development (GO:0021766)|intracellular protein transport (GO:0006886)|layer formation in cerebral cortex (GO:0021819)|motor neuron axon guidance (GO:0008045)|negative regulation of axon extension (GO:0030517)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of proteolysis (GO:0045861)|negative regulation of synaptic plasticity (GO:0031914)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|nucleocytoplasmic transport (GO:0006913)|oligodendrocyte differentiation (GO:0048709)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphorylation (GO:0016310)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein targeting to membrane (GO:0090314)|protein autophosphorylation (GO:0046777)|protein localization to synapse (GO:0035418)|receptor catabolic process (GO:0032801)|receptor clustering (GO:0043113)|regulated secretory pathway (GO:0045055)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|rhythmic process (GO:0048511)|Schwann cell development (GO:0014044)|sensory perception of pain (GO:0019233)|serine phosphorylation of STAT3 protein (GO:0033136)|skeletal muscle tissue development (GO:0007519)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)|visual learning (GO:0008542)	axon (GO:0030424)|cell junction (GO:0030054)|cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|filopodium (GO:0030175)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activator activity (GO:0030549)|ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|ErbB-2 class receptor binding (GO:0005176)|ErbB-3 class receptor binding (GO:0043125)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		TCTCAGGATCGAGGTCACCAT	0.517																																						ENST00000485972.1																			0				central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9						c.(292-294)ctC>ctT		cyclin-dependent kinase 5							75	75	75					7																	150753685		1922	4138	6060	SO:0001819	synonymous_variant	1020				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity	g.chr7:150753685G>A	X66364	CCDS47748.1, CCDS55184.1	7q36	2011-11-08			ENSG00000164885	ENSG00000164885		"Cyclin-dependent kinases"	1774	protein-coding gene	gene with protein product		123831				8275715, 1639063	Standard	NM_001164410		Approved	PSSALRE	uc003wir.2	Q00535	OTTHUMG00000158414	ENST00000485972.1:c.294C>T	7.37:g.150753685G>A						CDK5_ENST00000297518.4_Silent_p.L98L	p.L98L	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)	5	975	-		Breast(660;0.159)|Ovarian(593;0.182)	98			Protein kinase.		A1XKG3	Silent	SNP	ENST00000485972.1	37	c.294C>T	CCDS47748.1																																																																																				0.517	CDK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350965.3			13	27	0	0	0	0.024245	0	13	27					A	150753685	G	A	150753685	2	1	198	1	0	0	0	0	0	0	0	1	3142	1045	37	1		1	CDK5	7	150753685	Silent	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	484313	150753685	8384978	40	4164											
EPB49	2039	broad.mit.edu	37	chr8	21926531	21926531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccctctccattcacagcgctCgctgtcacccaaatccacat	4	19	3	0			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr8:21926531C>T	ENST00000523266.1	+	5	716	c.254C>T	c.(253-255)tCg>tTg	p.S85L	DMTN_ENST00000519907.1_Missense_Mutation_p.S85L|DMTN_ENST00000432128.1_Missense_Mutation_p.S85L|DMTN_ENST00000381470.3_Missense_Mutation_p.S85L|DMTN_ENST00000265800.5_Missense_Mutation_p.S85L|DMTN_ENST00000358242.3_Missense_Mutation_p.S85L|DMTN_ENST00000415253.1_Missense_Mutation_p.S85L|DMTN_ENST00000523782.2_Missense_Mutation_p.S60L|DMTN_ENST00000517600.1_Intron|DMTN_ENST00000443491.2_Missense_Mutation_p.S60L	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	85					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)										TCACAGCGCTCGCTGTCACCC	0.617																																						ENST00000358242.3																			0											c.(253-255)tCg>tTg		dematin actin binding protein							139	122	128					8																	21926531		2203	4300	6503	SO:0001583	missense	2039							g.chr8:21926531C>T	U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"erythrocyte membrane protein band 4.9 (dematin)"	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.254C>T	8.37:g.21926531C>T	ENSP00000427866:p.Ser85Leu					DMTN_ENST00000519907.1_Missense_Mutation_p.S85L|DMTN_ENST00000517600.1_Intron|DMTN_ENST00000432128.1_Missense_Mutation_p.S85L|DMTN_ENST00000265800.5_Missense_Mutation_p.S85L|DMTN_ENST00000443491.2_Missense_Mutation_p.S60L|DMTN_ENST00000523782.2_Missense_Mutation_p.S60L|DMTN_ENST00000381470.3_Missense_Mutation_p.S85L|DMTN_ENST00000415253.1_Missense_Mutation_p.S85L|DMTN_ENST00000523266.1_Missense_Mutation_p.S85L	p.S85L							5	747	+								A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Missense_Mutation	SNP	ENST00000523266.1	37	c.254C>T	CCDS6020.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.526367	0.64860	.	.	ENSG00000158856	ENST00000522148;ENST00000523300;ENST00000519850;ENST00000381470;ENST00000432128;ENST00000443491;ENST00000523623;ENST00000520174;ENST00000517804;ENST00000265800;ENST00000381455;ENST00000517418;ENST00000358242;ENST00000415253;ENST00000523266;ENST00000519907	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.36340	1.26;1.49;1.26;1.26;1.26;1.26;1.49;1.49;1.49;1.26;1.49;1.26;1.26;1.26;1.26	4.72	4.72	0.59763	.	0.256767	0.32802	N	0.005625	T	0.53997	0.1831	L	0.49778	1.585	0.58432	D	0.999996	B;B;B;B;D	0.71674	0.255;0.066;0.046;0.445;0.998	B;B;B;B;D	0.75484	0.024;0.006;0.008;0.03;0.986	T	0.56685	-0.7938	10	0.87932	D	0	.	15.2389	0.73452	0.0:1.0:0.0:0.0	.	24;85;60;60;85	E9PD40;Q08495;B3KRH3;E9PEJ0;Q08495-2	.;DEMA_HUMAN;.;.;.	L	60;60;85;85;85;60;60;60;85;85;24;85;85;85;85;85	ENSP00000428063:S60L;ENSP00000429116:S60L;ENSP00000430600:S85L;ENSP00000370879:S85L;ENSP00000416111:S85L;ENSP00000397904:S60L;ENSP00000428733:S60L;ENSP00000430382:S60L;ENSP00000428415:S85L;ENSP00000265800:S85L;ENSP00000429948:S85L;ENSP00000350977:S85L;ENSP00000401291:S85L;ENSP00000427866:S85L;ENSP00000429377:S85L	ENSP00000265800:S85L	S	+	2	0	EPB49	21982477	1.000000	0.71417	0.956000	0.39512	0.969000	0.65631	5.916000	0.69981	2.461000	0.83175	0.655000	0.94253	TCG		0.617	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375178.1	NM_001978		37	120	0	0	0	0.013114	0	37	120					T	21926531	C	T	21926531	3	4	198	1	0	0	0	0	1	0	0	0	5159	893	31	1	268	1	EPB49	8	21926531	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08		21926531	124437491	41	4165											
POLB	5423	broad.mit.edu	37	chr8	42196191	42196191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctcaacgggggaatcaccGacatgctcacaggttagcac	10	13	3	0			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr8:42196191G>A	ENST00000265421.4	+	1	219	c.49G>A	c.(49-51)Gac>Aac	p.D17N	POLB_ENST00000538005.1_5'UTR|POLB_ENST00000530566.1_Intron	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	17					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neuron apoptotic process (GO:0051402)|pyrimidine dimer repair (GO:0006290)|response to ethanol (GO:0045471)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|enzyme binding (GO:0019899)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	GGGAATCACCGACATGCTCAC	0.622								DNA polymerases (catalytic subunits)																														ENST00000265421.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16						c.(49-51)Gac>Aac	DNA polymerases (catalytic subunits)	polymerase (DNA directed), beta	Cytarabine(DB00987)						68	77	74					8																	42196191		2203	4300	6503	SO:0001583	missense	5423				DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding	g.chr8:42196191G>A		CCDS6129.1	8p12-p11	2012-10-02			ENSG00000070501	ENSG00000070501	2.7.7.7	"DNA polymerases"	9174	protein-coding gene	gene with protein product		174760					Standard	NM_002690		Approved		uc003xoz.2	P06746	OTTHUMG00000164093	ENST00000265421.4:c.49G>A	8.37:g.42196191G>A	ENSP00000265421:p.Asp17Asn					POLB_ENST00000538005.1_5'UTR|POLB_ENST00000530566.1_Intron	p.D17N	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		1	219	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	17					B2RC78|Q3KP48|Q6FI34	Missense_Mutation	SNP	ENST00000265421.4	37	c.49G>A	CCDS6129.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458277	0.84317	.	.	ENSG00000070501	ENST00000265421;ENST00000518925	T;T	0.46063	0.88;0.88	4.53	3.65	0.41850	DNA-directed DNA polymerase X (1);DNA-directed DNA polymerase, family X, beta-like, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.41373	0.1156	M	0.75447	2.3	0.80722	D	1	D;D	0.57571	0.972;0.98	B;B	0.41619	0.298;0.361	T	0.48364	-0.9042	10	0.87932	D	0	-0.5011	8.7892	0.34841	0.1043:0.0:0.8957:0.0	.	17;17	Q53EV2;P06746	.;DPOLB_HUMAN	N	17	ENSP00000265421:D17N;ENSP00000430784:D17N	ENSP00000265421:D17N	D	+	1	0	POLB	42315348	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	6.324000	0.72896	1.264000	0.44198	0.460000	0.39030	GAC		0.622	POLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377242.1	NM_002690		11	128	0	0	0	0.008291	0	11	128					A	42196191	G	A	42196191	3	1	198	1	0	0	0	0	1	0	0	0	12189	1058	37	1	51	1	POLB	8	42196191	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	20269660	42196191	104167831	42	4166											
KCNV2	169522	broad.mit.edu	37	chr9	2718867	2718867	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtaaggtgggtcaggtgttGcgcgtcatgcgcctcatgcg	17	9	3	0			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr9:2718867G>A	ENST00000382082.3	+	1	1366	c.1128G>A	c.(1126-1128)ttG>ttA	p.L376L		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	376					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GTCAGGTGTTGCGCGTCATGC	0.667																																						ENST00000382082.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35						c.(1126-1128)ttG>ttA		potassium channel, subfamily V, member 2							97	77	84					9																	2718867		2203	4300	6503	SO:0001819	synonymous_variant	169522					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr9:2718867G>A	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.1128G>A	9.37:g.2718867G>A							p.L376L	NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN		GBM - Glioblastoma multiforme(50;0.0257)	1	1366	+			376					Q5T6X0	Silent	SNP	ENST00000382082.3	37	c.1128G>A	CCDS6447.1																																																																																				0.667	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		41	63	0	0	0	0.025465	0	41	63					A	2718867	G	A	2718867	2	1	198	1	0	0	0	0	0	0	0	1	8095	1310	46	2		2	KCNV2	9	2718867	Silent	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08		2718867	138494564	43	4167											
KIAA1432	57589	broad.mit.edu	37	chr9	5757374	5757374	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccatgtcacgctacattcctCaccctttcctggtggtatct	6	15	3	0			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr9:5757374C>T	ENST00000414202.2	+	17	2106	c.1915C>T	c.(1915-1917)Cac>Tac	p.H639Y	KIAA1432_ENST00000449720.2_Missense_Mutation_p.H523Y|KIAA1432_ENST00000418622.3_Missense_Mutation_p.H560Y|KIAA1432_ENST00000251879.6_Missense_Mutation_p.H639Y|KIAA1432_ENST00000381532.2_Missense_Mutation_p.H560Y	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CTACATTCCTCACCCTTTCCT	0.428																																						ENST00000414202.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45						c.(1915-1917)Cac>Tac		KIAA1432							293	263	273					9																	5757374		2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5757374C>T																												ENST00000414202.2:c.1915C>T	9.37:g.5757374C>T	ENSP00000416696:p.His639Tyr					KIAA1432_ENST00000381532.2_Missense_Mutation_p.H560Y|KIAA1432_ENST00000418622.3_Missense_Mutation_p.H560Y|KIAA1432_ENST00000449720.2_Missense_Mutation_p.H523Y|KIAA1432_ENST00000251879.6_Missense_Mutation_p.H639Y	p.H639Y	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	17	2106	+		Acute lymphoblastic leukemia(23;0.154)	639						Missense_Mutation	SNP	ENST00000414202.2	37	c.1915C>T	CCDS34982.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.44|19.44	3.827402|3.827402	0.71143|0.71143	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720|ENST00000545641	.|.	.|.	.|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72061|0.72061	0.3414|0.3414	L|L	0.52266|0.52266	1.64|1.64	0.80722|0.80722	D|D	1|1	P;P;P;P|.	0.46784|.	0.615;0.816;0.849;0.884|.	B;B;B;B|.	0.43155|.	0.1;0.232;0.296;0.41|.	T|T	0.65825|0.65825	-0.6074|-0.6074	9|5	0.18710|.	T|.	0.47|.	-18.035|-18.035	20.6593|20.6593	0.99626|0.99626	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	523;560;639;639|.	B7ZM67;B2RN24;Q4ADV7;G5E932|.	.;.;RIC1_HUMAN;.|.	Y|L	639;639;560;560;523|530	.|.	ENSP00000251879:H639Y|.	H|S	+|+	1|2	0|0	KIAA1432|KIAA1432	5747374|5747374	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.420000|7.420000	0.80191|0.80191	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	CAC|TCA		0.428	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			27	201	0	0	0	0.030593	0	27	201					T	5757374	C	T	5757374	3	4	198	1	0	0	0	0	1	0	0	0	8233	826	29	2	1740	2	KIAA1432	9	5757374	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	3038507	5757374	135456057	44	4168											
PTCH1	5727	broad.mit.edu	37	chr9	98239123	98239123	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccacaccaacaccaagaGcgagaaatggcaaaacctac	6	14	0	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr9:98239123G>A	ENST00000331920.6	-	11	1819	c.1520C>T	c.(1519-1521)gCt>gTt	p.A507V	PTCH1_ENST00000418258.1_Missense_Mutation_p.A356V|PTCH1_ENST00000430669.2_Missense_Mutation_p.A441V|PTCH1_ENST00000421141.1_Missense_Mutation_p.A356V|PTCH1_ENST00000437951.1_Missense_Mutation_p.A441V|PTCH1_ENST00000375274.2_Missense_Mutation_p.A506V|PTCH1_ENST00000429896.2_Missense_Mutation_p.A356V	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	507	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				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)			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)				AACACCAAGAGCGAGAAATGG	0.428																																						ENST00000430669.2																			0				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.(1321-1323)gCt>gTt		patched 1							143	111	121					9																	98239123		2203	4300	6503	SO:0001583	missense	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.chr9:98239123G>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.1520C>T	9.37:g.98239123G>A	ENSP00000332353:p.Ala507Val					PTCH1_ENST00000429896.2_Missense_Mutation_p.A356V|PTCH1_ENST00000375274.2_Missense_Mutation_p.A506V|PTCH1_ENST00000421141.1_Missense_Mutation_p.A356V|PTCH1_ENST00000418258.1_Missense_Mutation_p.A356V|PTCH1_ENST00000331920.6_Missense_Mutation_p.A507V|PTCH1_ENST00000437951.1_Missense_Mutation_p.A441V	p.A441V			Q13635	PTC1_HUMAN			11	1907	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	507			SSD.		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	c.1322C>T	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427169	0.83667	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000375271	D;D;D;D;D;D;D;D	0.93133	-3.17;-3.17;-3.17;-3.17;-3.17;-3.17;-3.17;-3.17	5.54	4.64	0.57946	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.93400	0.7895	L	0.37561	1.115	0.80722	D	1	D;D;D;D	0.65815	0.995;0.992;0.995;0.994	D;D;D;D	0.74674	0.984;0.959;0.983;0.954	D	0.90037	0.4139	10	0.02654	T	1	-17.953	16.6136	0.84901	0.0:0.13:0.87:0.0	.	356;441;506;507	Q13635-4;Q13635-3;Q13635-2;Q13635	.;.;.;PTC1_HUMAN	V	507;441;356;356;441;356;506;172	ENSP00000332353:A507V;ENSP00000389744:A441V;ENSP00000399981:A356V;ENSP00000396135:A356V;ENSP00000410287:A441V;ENSP00000414823:A356V;ENSP00000364423:A506V;ENSP00000364420:A172V	ENSP00000332353:A507V	A	-	2	0	PTCH1	97278944	1.000000	0.71417	0.946000	0.38457	0.550000	0.35303	9.263000	0.95617	1.562000	0.49601	0.655000	0.94253	GCT		0.428	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		9	33	0	0	0	0.008291	0	9	33					A	98239123	G	A	98239123	3	1	198	1	0	0	0	0	1	0	0	0	12730	971	34	2	2875	2	PTCH1	9	98239123	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	92481749	98239123	42974308	45	4169											
GLT6D1	360203	broad.mit.edu	37	chr9	138516117	138516117	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaaatctccctgtccaaaCgggatgcaagctgctgaggt	11	10	1	2	rs201383603		TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr9:138516117C>T	ENST00000371763.1	-	5	910	c.657G>A	c.(655-657)ccG>ccA	p.P219P		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	219			P -> S (in dbSNP:rs17040344). {ECO:0000269|PubMed:19218399}.		carbohydrate metabolic process (GO:0005975)	integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)	p.P219P(1)		endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		CCTGTCCAAACGGGATGCAAG	0.493													C|||	1	0.000199681	0	0.0014	5008	,	,		20088	0		0	False		,,,				2504	0					ENST00000371763.1																			1	Substitution - coding silent(1)	p.P219P(1)	endometrium(1)	endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15						c.(655-657)ccG>ccA		glycosyltransferase 6 domain containing 1							105	104	104					9																	138516117		1915	4127	6042	SO:0001819	synonymous_variant	360203				carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups	g.chr9:138516117C>T	AY336054	CCDS43900.1	9q34.3	2013-02-22	2004-09-16	2004-09-17	ENSG00000204007	ENSG00000204007		"Glycosyltransferase family 6 domain containing"	23671	protein-coding gene	gene with protein product		613699	"galactosyltransferase family 6 domain containing 1"	GLTDC1			Standard	NM_182974		Approved		uc010nbd.1	Q7Z4J2	OTTHUMG00000020911	ENST00000371763.1:c.657G>A	9.37:g.138516117C>T							p.P219P	NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)	5	910	-		Myeloproliferative disorder(178;0.0821)	219		P -> S (in dbSNP:rs17040344).				Silent	SNP	ENST00000371763.1	37	c.657G>A	CCDS43900.1																																																																																				0.493	GLT6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055005.2	NM_182974		5	135	0	0	0	0.021553	0	5	135					T	138516117	C	T	138516117	2	4	198	1	0	0	0	0	0	0	0	1	6468	523	19	1		1	GLT6D1	9	138516117	Silent	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	40276994	138516117	2697314	46	4170											
BICC1	80114	broad.mit.edu	37	chr10	60573609	60573609	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggctcatccatgtccctttCacggtccaacagtcgtgagc	10	14	2	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr10:60573609C>T	ENST00000373886.3	+	18	2400	c.2396C>T	c.(2395-2397)tCa>tTa	p.S799L	BICC1_ENST00000263103.1_Missense_Mutation_p.S425L	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	799					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						ATGTCCCTTTCACGGTCCAAC	0.458																																						ENST00000373886.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						c.(2395-2397)tCa>tTa		bicaudal C homolog 1 (Drosophila)							145	135	139					10																	60573609		2203	4300	6503	SO:0001583	missense	80114				multicellular organismal development		RNA binding	g.chr10:60573609C>T	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"Sterile alpha motif (SAM) domain containing"	19351	protein-coding gene	gene with protein product		614295	"bicaudal C homolog 1 (Drosophila)"				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.2396C>T	10.37:g.60573609C>T	ENSP00000362993:p.Ser799Leu					BICC1_ENST00000263103.1_Missense_Mutation_p.S425L	p.S799L	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN			18	2400	+			799						Missense_Mutation	SNP	ENST00000373886.3	37	c.2396C>T	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.926163	0.92319	.	.	ENSG00000122870	ENST00000373886;ENST00000263103	T;T	0.53640	1.61;0.61	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.67748	0.2926	M	0.61703	1.905	0.80722	D	1	D;D	0.76494	0.999;0.993	D;D	0.78314	0.991;0.977	T	0.67452	-0.5667	10	0.62326	D	0.03	-11.9317	18.4528	0.90710	0.0:1.0:0.0:0.0	.	719;799	E7EU62;Q9H694	.;BICC1_HUMAN	L	799;425	ENSP00000362993:S799L;ENSP00000263103:S425L	ENSP00000263103:S425L	S	+	2	0	BICC1	60243615	1.000000	0.71417	0.877000	0.34402	0.772000	0.43724	7.362000	0.79507	2.793000	0.96121	0.563000	0.77884	TCA		0.458	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		40	116	0	0	0	0.039052	0	40	116					T	60573609	C	T	60573609	3	4	198	1	0	0	0	0	1	0	0	0	1427	838	29	2	2466	2	BICC1	10	60573609	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08		60573609	74961138	47	4171											
CCDC6	8030	broad.mit.edu	37	chr10	61666113	61666113	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcgacgagcaggacgactGcatggcggccgagctgctgc	17	12	0	0			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr10:61666113G>A	ENST00000263102.6	-	1	301	c.70C>T	c.(70-72)Cag>Tag	p.Q24*		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	24						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		CAGGACGACTGCATGGCGGCC	0.751			T	RET	NSCLC																																	ENST00000263102.6				Dom	yes		10	10q21	8030	T	coiled-coil domain containing 6			E	RET		NSCLC	CCDC6/RET(4)	0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18						c.(70-72)Cag>Tag		coiled-coil domain containing 6							8	12	11					10																	61666113		1844	3752	5596	SO:0001587	stop_gained	8030					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton	g.chr10:61666113G>A	S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"	601985	"DNA segment on chromosome 10 (unique) 170"	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.70C>T	10.37:g.61666113G>A	ENSP00000263102:p.Gln24*						p.Q24*	NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN		Kidney(211;0.0597)	1	301	-			24					Q15250|Q6GSG7	Nonsense_Mutation	SNP	ENST00000263102.6	37	c.70C>T	CCDS7257.1	.	.	.	.	.	.	.	.	.	.	G	39	7.872556	0.98537	.	.	ENSG00000108091	ENST00000263102	.	.	.	4.31	4.31	0.51392	.	0.496053	0.19725	N	0.107488	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-15.0086	14.6998	0.69147	0.0:0.0:1.0:0.0	.	.	.	.	X	24	.	ENSP00000263102:Q24X	Q	-	1	0	CCDC6	61336119	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.353000	0.44089	2.397000	0.81536	0.655000	0.94253	CAG		0.751	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048176.2	NM_005436		16	25	0	0	0	0.0333	0	16	25					A	61666113	G	A	61666113	4	1	198	1	0	0	0	0	0	1	0	0	2830	1328	46	2	1390	2	CCDC6	10	61666113	Nonsense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	1092504	61666113	73868634	48	4172											
TBC1D12	23232	broad.mit.edu	37	chr10	96162370	96162370	+	De_novo_Start_InFrame	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcggccgccacccacccccaGatggtgggtccggaggatgc	15	16	0	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr10:96162370G>A	ENST00000225235.4	+	0	110					NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12								Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCCACCCCCAGATGGTGGGTC	0.697																																						ENST00000225235.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20								TBC1 domain family, member 12							13	14	14					10																	96162370		1622	3714	5336			23232					intracellular	Rab GTPase activator activity	g.chr10:96162370G>A	AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794		10.37:g.96162370G>A								NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN			0	110	+		Colorectal(252;0.0429)						Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Translation_Start_Site	SNP	ENST00000225235.4	37		CCDS41553.1																																																																																				0.697	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2			12	28	0	0	0	0.028581	0	12	28					A	96162370	G	A	96162370	1	1	198	1	0	1	0	0	0	0	0	0	15598	957	33	2		2	TBC1D12	10	96162370	De_novo_Start_InFrame	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	34496257	96162370	39372377	49	4173											
GPR123	84435	broad.mit.edu	37	chr10	134910590	134910590	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggcctccttcgtcacctAcatcgtgcaccagaggtgag	10	15	1	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr10:134910590A>C	ENST00000392607.3	+	3	552	c.116A>C	c.(115-117)tAc>tCc	p.Y39S	GPR123_ENST00000607359.1_Missense_Mutation_p.Y759S	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	39					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		TTCGTCACCTACATCGTGCAC	0.632																																						ENST00000607359.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14						c.(2275-2277)tAc>tCc		G protein-coupled receptor 123							120	98	106					10																	134910590		2203	4300	6503	SO:0001583	missense	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134910590A>C	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"-", "GPCR / Class B : Orphans"	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.116A>C	10.37:g.134910590A>C	ENSP00000376384:p.Tyr39Ser					GPR123_ENST00000392607.3_Missense_Mutation_p.Y39S	p.Y759S			Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	12	2276	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	39					A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	ENST00000392607.3	37	c.2276A>C	CCDS41580.1	.	.	.	.	.	.	.	.	.	.	A	15.73	2.920030	0.52653	.	.	ENSG00000197177	ENST00000368577;ENST00000392609;ENST00000392607	T	0.37915	1.17	3.85	3.85	0.44370	GPCR, family 2-like (1);	0.268160	0.25801	N	0.028216	T	0.60676	0.2287	M	0.85777	2.775	0.80722	D	1	D;D	0.71674	0.993;0.998	D;D	0.74674	0.973;0.984	T	0.66228	-0.5976	10	0.66056	D	0.02	-38.623	10.9105	0.47106	1.0:0.0:0.0:0.0	.	39;759	Q86SQ6;Q86SQ6-1	GP123_HUMAN;.	S	759;759;39	ENSP00000376384:Y39S	ENSP00000357566:Y759S	Y	+	2	0	GPR123	134760580	1.000000	0.71417	0.525000	0.27900	0.350000	0.29205	8.369000	0.90118	1.542000	0.49330	0.358000	0.22013	TAC		0.632	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2			8	88	0	0	0	0.038147	0	8	88					C	134910590	A	C	134910590	3	2	198	1	0	0	0	0	1	0	0	0	6637	391	14	5	122	5	GPR123	10	134910590	Missense_Mutation	SNP	A	TCGA-EL-A3CT-01A-12D-A202-08	38748220	134910590	624157	50	4174											
KRTAP5-5	439915	broad.mit.edu	37	chr11	1651522	1651522	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtccaaggggggctgtggttCttatggctgctcccagtcca	14	11	1	0	rs201208697		TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:1651522C>T	ENST00000399676.2	+	1	490	c.452C>T	c.(451-453)tCt>tTt	p.S151F		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	151	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		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)		GGCTGTGGTTCTTATGGCTGC	0.667																																						ENST00000399676.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33						c.(451-453)tCt>tTt		keratin associated protein 5-5							45	60	55					11																	1651522		2162	4232	6394	SO:0001583	missense	439915					keratin filament		g.chr11:1651522C>T	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"Keratin associated proteins"	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.452C>T	11.37:g.1651522C>T	ENSP00000382584:p.Ser151Phe						p.S151F	NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	490	+		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)	151			8 X 4 AA repeats of C-C-X-P.		A8MWN2	Missense_Mutation	SNP	ENST00000399676.2	37	c.452C>T	CCDS41592.1	.	.	.	.	.	.	.	.	.	.	c	0.995	-0.692829	0.03303	.	.	ENSG00000185940	ENST00000399676;ENST00000422553	T	0.01172	5.23	2.28	2.28	0.28536	.	.	.	.	.	T	0.02418	0.0074	M	0.81497	2.545	0.09310	N	1	B	0.21905	0.062	B	0.14578	0.011	T	0.18335	-1.0340	9	0.56958	D	0.05	.	10.6307	0.45534	0.0:1.0:0.0:0.0	.	151	Q701N2	KRA55_HUMAN	F	151;122	ENSP00000382584:S151F	ENSP00000382584:S151F	S	+	2	0	KRTAP5-5	1608098	0.065000	0.20965	0.021000	0.16686	0.016000	0.09150	-0.229000	0.09098	1.584000	0.49913	0.484000	0.47621	TCT		0.667	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			11	179	0	0	0	0.024245	0	11	179					T	1651522	C	T	1651522	3	4	198	1	0	0	0	0	1	0	0	0	8564	913	32	2	454	2	KRTAP5-5	11	1651522	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08		1651522	133354994	51	4175											
ARFIP2	23647	broad.mit.edu	37	chr11	6500468	6500468	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccagaaggagtggtgctgtGagatggatggcggccagacc	18	8	0	3			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:6500468G>A	ENST00000254584.2	-	4	300	c.217C>T	c.(217-219)Cac>Tac	p.H73Y	ARFIP2_ENST00000525235.1_Missense_Mutation_p.H73Y|ARFIP2_ENST00000423813.2_Missense_Mutation_p.H35Y|ARFIP2_ENST00000445086.2_Intron|TIMM10B_ENST00000254616.6_5'Flank|ARFIP2_ENST00000396777.3_Missense_Mutation_p.H73Y|TIMM10B_ENST00000530751.1_5'Flank|TIMM10B_ENST00000472836.1_5'Flank	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	73					actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|lamellipodium assembly (GO:0030032)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|Rac GTPase binding (GO:0048365)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GTGGTGCTGTGAGATGGATGG	0.532																																					Melanoma(119;796 1674 9049 20480 24794)	ENST00000254584.2																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15						c.(217-219)Cac>Tac		ADP-ribosylation factor interacting protein 2							92	85	88					11																	6500468		2201	4296	6497	SO:0001583	missense	23647				actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding	g.chr11:6500468G>A	BC000392	CCDS7765.1, CCDS55739.1, CCDS55740.1, CCDS73250.1	11p15	2008-08-01	2008-08-01		ENSG00000132254	ENSG00000132254			17160	protein-coding gene	gene with protein product	"arfaptin 2"	601638				8670882, 9038142	Standard	NM_012402		Approved	POR1	uc010ran.2	P53365	OTTHUMG00000133406	ENST00000254584.2:c.217C>T	11.37:g.6500468G>A	ENSP00000254584:p.His73Tyr					ARFIP2_ENST00000525235.1_Missense_Mutation_p.H73Y|ARFIP2_ENST00000423813.2_Missense_Mutation_p.H35Y|ARFIP2_ENST00000396777.3_Missense_Mutation_p.H73Y|ARFIP2_ENST00000445086.2_Intron	p.H73Y	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	4	300	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	73					B4DX86|B4E306|D3DQT5	Missense_Mutation	SNP	ENST00000254584.2	37	c.217C>T	CCDS7765.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.302234	0.60195	.	.	ENSG00000132254	ENST00000254584;ENST00000396777;ENST00000423813;ENST00000525235	T;T;T	0.76709	-1.03;-1.03;-1.04	5.49	5.49	0.81192	.	0.235853	0.50627	D	0.000117	T	0.63426	0.2510	L	0.29908	0.895	0.80722	D	1	P;P	0.47302	0.893;0.75	B;B	0.37144	0.242;0.129	T	0.66630	-0.5875	10	0.02654	T	1	.	18.9547	0.92654	0.0:0.0:1.0:0.0	.	106;73	B4DUZ3;P53365	.;ARFP2_HUMAN	Y	73;73;35;73	ENSP00000254584:H73Y;ENSP00000379998:H73Y;ENSP00000398375:H35Y	ENSP00000254584:H73Y	H	-	1	0	ARFIP2	6457044	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.056000	0.49923	2.588000	0.87417	0.484000	0.47621	CAC		0.532	ARFIP2-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387044.1	NM_012402		22	113	0	0	0	0.014323	0	22	113					A	6500468	G	A	6500468	3	1	198	1	0	0	0	0	1	0	0	0	855	1290	45	2	828	2	ARFIP2	11	6500468	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	4848946	6500468	128506048	52	4176											
C11orf74	119710	broad.mit.edu	37	chr11	36631730	36631730	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtcttggataaattccttaAttgtcatgagcaaacatatg	7	7	2	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:36631730A>G	ENST00000334307.5	+	2	192	c.77A>G	c.(76-78)aAt>aGt	p.N26S	C11orf74_ENST00000534635.1_Missense_Mutation_p.N26S|C11orf74_ENST00000347206.4_Missense_Mutation_p.N26S|C11orf74_ENST00000446510.2_Missense_Mutation_p.N26S	NM_138787.2	NP_620142.2	Q86VG3	CK074_HUMAN	chromosome 11 open reading frame 74	26										breast(1)|kidney(1)|large_intestine(1)|lung(5)	8	all_lung(20;0.226)	all_hematologic(20;0.0118)				AAATTCCTTAATTGTCATGAG	0.348																																						ENST00000446510.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(5)	8						c.(76-78)aAt>aGt		chromosome 11 open reading frame 74							89	89	89					11																	36631730		2202	4298	6500	SO:0001583	missense	119710							g.chr11:36631730A>G	AK095997, BC009561	CCDS7904.1, CCDS60762.1	11p12	2012-08-10			ENSG00000166352	ENSG00000166352			25142	protein-coding gene	gene with protein product						12477932	Standard	NM_001276722		Approved	FLJ38678, HEPIS	uc031pzr.1	Q86VG3	OTTHUMG00000166397	ENST00000334307.5:c.77A>G	11.37:g.36631730A>G	ENSP00000334848:p.Asn26Ser					C11orf74_ENST00000334307.5_Missense_Mutation_p.N26S|C11orf74_ENST00000534635.1_Missense_Mutation_p.N26S|C11orf74_ENST00000347206.4_Missense_Mutation_p.N26S	p.N26S			Q86VG3	CK074_HUMAN			2	176	+	all_lung(20;0.226)	all_hematologic(20;0.0118)	26					D3DR18|Q96DD6	Missense_Mutation	SNP	ENST00000334307.5	37	c.77A>G	CCDS7904.1	.	.	.	.	.	.	.	.	.	.	A	13.48	2.250397	0.39797	.	.	ENSG00000166352	ENST00000334307;ENST00000531554;ENST00000347206;ENST00000534635;ENST00000446510;ENST00000530697;ENST00000527108;ENST00000532470	.	.	.	6.17	3.86	0.44501	.	0.405345	0.25827	N	0.028045	T	0.40119	0.1104	L	0.55481	1.735	0.32568	N	0.530204	B;P	0.35793	0.275;0.521	B;B	0.34652	0.067;0.187	T	0.49418	-0.8942	9	0.34782	T	0.22	-22.9604	8.8349	0.35107	0.8544:0.0:0.1456:0.0	.	26;26	Q86VG3;Q86VG3-2	CK074_HUMAN;.	S	26	.	ENSP00000334848:N26S	N	+	2	0	C11orf74	36588306	1.000000	0.71417	0.998000	0.56505	0.738000	0.42128	2.861000	0.48380	0.563000	0.29222	0.533000	0.62120	AAT		0.348	C11orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389567.1	NM_138787		14	62	0	0	0	0.020292	0	14	62					G	36631730	A	G	36631730	3	3	198	1	0	0	0	0	1	0	0	0	1662	101	4	3	79	3	C11orf74	11	36631730	Missense_Mutation	SNP	A	TCGA-EL-A3CT-01A-12D-A202-08	30131262	36631730	98374786	53	4177											
OR8H2	390151	broad.mit.edu	37	chr11	55872901	55872901	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcgctatgcagcgatctgcaGtcctctacactacacagtta	7	13	2	0			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:55872901G>C	ENST00000313503.1	+	1	383	c.383G>C	c.(382-384)aGt>aCt	p.S128T		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GCGATCTGCAGTCCTCTACAC	0.478										HNSCC(53;0.14)																												ENST00000313503.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61						c.(382-384)aGt>aCt		olfactory receptor, family 8, subfamily H, member 2							195	185	189					11																	55872901		2201	4296	6497	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872901G>C	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"GPCR / Class A : Olfactory receptors"	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.383G>C	11.37:g.55872901G>C	ENSP00000323982:p.Ser128Thr	HNSCC(53;0.14)					p.S128T	NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN			1	383	+	Esophageal squamous(21;0.00693)		128					Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.383G>C	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	g	2.155	-0.393640	0.04899	.	.	ENSG00000181767	ENST00000313503	T	0.01347	4.99	3.35	-0.769	0.11009	GPCR, rhodopsin-like superfamily (1);	0.726516	0.12860	N	0.433166	T	0.01661	0.0053	L	0.49126	1.545	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.40590	-0.9555	10	0.62326	D	0.03	.	5.7586	0.18186	0.5031:0.1387:0.3582:0.0	.	128	Q8N162	OR8H2_HUMAN	T	128	ENSP00000323982:S128T	ENSP00000323982:S128T	S	+	2	0	OR8H2	55629477	0.000000	0.05858	0.012000	0.15200	0.019000	0.09904	-0.018000	0.12568	-0.271000	0.09272	-0.423000	0.05987	AGT		0.478	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		68	234	0	0	0	0.01441	0	68	234					C	55872901	G	C	55872901	3	2	198	1	0	0	0	0	1	0	0	0	11238	1029	36	4	385	4	OR8H2	11	55872901	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	19241171	55872901	79133615	54	4178											
OR8H3	390152	broad.mit.edu	37	chr11	55890231	55890231	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcgctatgcagcgatctgcaGtcctctacactacacagtta	7	13	2	0			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:55890231G>C	ENST00000313472.3	+	1	383	c.383G>C	c.(382-384)aGt>aCt	p.S128T		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					GCGATCTGCAGTCCTCTACAC	0.473																																						ENST00000313472.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42						c.(382-384)aGt>aCt		olfactory receptor, family 8, subfamily H, member 3							188	172	177					11																	55890231		2201	4296	6497	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890231G>C	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"GPCR / Class A : Olfactory receptors"	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.383G>C	11.37:g.55890231G>C	ENSP00000323928:p.Ser128Thr						p.S128T	NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN			1	383	+	Esophageal squamous(21;0.00693)		128					Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.383G>C	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	G	3.897	-0.022827	0.07634	.	.	ENSG00000181761	ENST00000313472	T	0.01347	4.99	3.44	0.969	0.19686	GPCR, rhodopsin-like superfamily (1);	0.726516	0.12860	N	0.433166	T	0.01800	0.0057	L	0.48260	1.515	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.41270	-0.9518	10	0.62326	D	0.03	.	7.4794	0.27395	0.8137:0.0:0.1863:0.0	.	128	Q8N146	OR8H3_HUMAN	T	128	ENSP00000323928:S128T	ENSP00000323928:S128T	S	+	2	0	OR8H3	55646807	0.000000	0.05858	0.283000	0.24790	0.204000	0.24138	0.989000	0.29629	-0.032000	0.13758	0.173000	0.16961	AGT		0.473	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		3	230	0	0	0	0.004482	0	3	230					C	55890231	G	C	55890231	3	2	198	1	0	0	0	0	1	0	0	0	11239	1029	36	4	385	4	OR8H3	11	55890231	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	17330	55890231	79116285	55	4179											
AHNAK	79026	broad.mit.edu	37	chr11	62299935	62299935	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actgatatctcctttgggtaGagtcatatgaacatctggac	9	8	3	3			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:62299935G>A	ENST00000378024.4	-	5	2228	c.1954C>T	c.(1954-1956)Cta>Tta	p.L652L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	652					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTTTGGGTAGAGTCATATGA	0.512																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(1954-1956)Cta>Tta		AHNAK nucleoprotein							128	126	127					11																	62299935		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62299935G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.1954C>T	11.37:g.62299935G>A						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.L652L	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	2228	-		Melanoma(852;0.155)	652					A1A586	Silent	SNP	ENST00000378024.4	37	c.1954C>T	CCDS31584.1																																																																																				0.512	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		38	135	0	0	0	0.030466	0	38	135					A	62299935	G	A	62299935	2	1	198	1	0	0	0	0	0	0	0	1	414	933	33	2		2	AHNAK	11	62299935	Silent	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	6409704	62299935	72706581	56	4180											
HNRNPUL2	221092	broad.mit.edu	37	chr11	62494265	62494265	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagcatctggctcggccgCggcctccatggctgccgcct	14	16	1	0	rs372276805		TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:62494265C>T	ENST00000301785.5	-	1	556	c.364G>A	c.(364-366)Gcg>Acg	p.A122T	HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.A122T|TTC9C_ENST00000513247.2_5'Flank|TTC9C_ENST00000532583.1_5'Flank|TTC9C_ENST00000316461.4_5'Flank	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	122	Glu-rich. {ECO:0000255}.					membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GGCTCGGCCGCGGCCTCCATG	0.721													C|||	1	0.000199681	8e-04	0	5008	,	,		10795	0		0	False		,,,				2504	0					ENST00000301785.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(364-366)Gcg>Acg		heterogeneous nuclear ribonucleoprotein U-like 2		C	THR/ALA	1,3511		0,1,1755	11	13	12		364	1.8	0.1	11		12	0,7868		0,0,3934	no	missense	HNRNPUL2	NM_001079559.2	58	0,1,5689	TT,TC,CC		0.0,0.0285,0.0088	benign	122/748	62494265	1,11379	1756	3934	5690	SO:0001583	missense	221092				cell killing	nucleus	ATP binding|nucleic acid binding	g.chr11:62494265C>T		CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.364G>A	11.37:g.62494265C>T	ENSP00000301785:p.Ala122Thr					RP11-831H9.16_ENST00000403734.2_Missense_Mutation_p.A122T	p.A122T	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN			1	556	-			122			Glu-rich.		Q8N3B3	Missense_Mutation	SNP	ENST00000301785.5	37	c.364G>A	CCDS41659.1	.	.	.	.	.	.	.	.	.	.	C	4.831	0.154454	0.09236	2.85E-4	0.0	ENSG00000214753	ENST00000301785	T	0.44482	0.92	3.79	1.84	0.25277	.	0.980375	0.08280	U	0.970027	T	0.21267	0.0512	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26883	-1.0090	10	0.20046	T	0.44	.	6.5922	0.22654	0.1783:0.7195:0.0:0.1022	.	122	Q1KMD3	HNRL2_HUMAN	T	122	ENSP00000301785:A122T	ENSP00000301785:A122T	A	-	1	0	HNRNPUL2	62250841	0.958000	0.32768	0.076000	0.20297	0.143000	0.21401	0.994000	0.29693	0.350000	0.24002	-0.521000	0.04368	GCG		0.721	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877		20	39	0	0	0	0.012319	0	20	39					T	62494265	C	T	62494265	3	4	198	1	0	0	0	0	1	0	0	0	7275	768	27	1	1935	1	HNRNPUL2	11	62494265	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	194330	62494265	72512251	57	4181											
DPP3	10072	broad.mit.edu	37	chr11	66263137	66263137	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggggctgatgcggaggacgtGatctacgtgaactggctcaa	16	8	2	3	rs113357584	byFrequency	TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:66263137G>A	ENST00000360510.2	+	15	1679	c.1614G>A	c.(1612-1614)gtG>gtA	p.V538V	DPP3_ENST00000530165.1_Silent_p.V508V|DPP3_ENST00000532677.1_Silent_p.V557V|DPP3_ENST00000453114.1_Silent_p.V538V|DPP3_ENST00000541961.1_Silent_p.V538V|DPP3_ENST00000531863.1_Silent_p.V558V			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	538					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CGGAGGACGTGATCTACGTGA	0.617																																						ENST00000532677.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(1669-1671)gtG>gtA		dipeptidyl-peptidase 3							87	80	82					11																	66263137		2200	4295	6495	SO:0001819	synonymous_variant	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66263137G>A	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"dipeptidylpeptidase III", "dipeptidylpeptidase 3"			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.1614G>A	11.37:g.66263137G>A						DPP3_ENST00000541961.1_Silent_p.V538V|DPP3_ENST00000530165.1_Silent_p.V508V|DPP3_ENST00000360510.2_Silent_p.V538V|DPP3_ENST00000531863.1_Silent_p.V558V|DPP3_ENST00000453114.1_Silent_p.V538V	p.V557V	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN			15	2072	+			538					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Silent	SNP	ENST00000360510.2	37	c.1671G>A	CCDS8141.1																																																																																				0.617	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			12	60	0	0	0	0.016723	0	12	60					A	66263137	G	A	66263137	2	1	198	1	0	0	0	0	0	0	0	1	4728	1277	45	2		2	DPP3	11	66263137	Silent	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	3768872	66263137	68743379	58	4182											
EED	8726	broad.mit.edu	37	chr11	85956375	85956375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagcaatccagacctctctgGagacgagaatgtaagtgcag	11	10	1	3			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:85956375G>A	ENST00000263360.6	+	1	790	c.104G>A	c.(103-105)gGa>gAa	p.G35E	EED_ENST00000528180.1_Missense_Mutation_p.G35E|EED_ENST00000327320.4_Missense_Mutation_p.G35E|EED_ENST00000351625.6_Missense_Mutation_p.G35E	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	35					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K27 methylation (GO:0061087)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				GACCTCTCTGGAGACGAGAAT	0.562																																						ENST00000263360.6																			0				haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21						c.(103-105)gGa>gAa		embryonic ectoderm development							55	45	48					11																	85956375		2203	4299	6502	SO:0001583	missense	8726				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding	g.chr11:85956375G>A	AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266		"WD repeat domain containing"	3188	protein-coding gene	gene with protein product	"WD protein associating with integrin cytoplasmic tails 1"	605984				9765275, 9806832	Standard	NM_003797		Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000263360.6:c.104G>A	11.37:g.85956375G>A	ENSP00000263360:p.Gly35Glu					EED_ENST00000528180.1_Missense_Mutation_p.G35E|EED_ENST00000351625.6_Missense_Mutation_p.G35E|EED_ENST00000327320.4_Missense_Mutation_p.G35E	p.G35E	NM_003797.3	NP_003788.2	O75530	EED_HUMAN			1	790	+		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)	35					A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	Missense_Mutation	SNP	ENST00000263360.6	37	c.104G>A	CCDS8273.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.949040|3.949040	0.73787|0.73787	.|.	.|.	ENSG00000074266|ENSG00000074266	ENST00000534595|ENST00000263360;ENST00000528180;ENST00000351625;ENST00000327320;ENST00000537092	.|T;T;T;T	.|0.79940	.|-0.82;-1.32;-0.73;-0.75	4.73|4.73	4.73|4.73	0.59995|0.59995	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80417|0.80417	0.4619|0.4619	N|N	0.10874|0.10874	0.06|0.06	0.80722|0.80722	D|D	1|1	.|B;D;B;B	.|0.89917	.|0.02;1.0;0.2;0.012	.|B;D;B;B	.|0.83275	.|0.013;0.996;0.034;0.006	T|T	0.79967|0.79967	-0.1580|-0.1580	5|9	.|.	.|.	.|.	-10.1422|-10.1422	18.2509|18.2509	0.90002|0.90002	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|35;35;35;35	.|O75530-3;E9PJK2;O75530-2;O75530	.|.;.;.;EED_HUMAN	K|E	34|35	.|ENSP00000263360:G35E;ENSP00000431778:G35E;ENSP00000338186:G35E;ENSP00000315587:G35E	.|.	E|G	+|+	1|2	0|0	EED|EED	85634023|85634023	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.830000|8.830000	0.92063|0.92063	2.600000|2.600000	0.87896|0.87896	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.562	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393733.1	NM_003797		16	35	0	0	0	0.028581	0	16	35					A	85956375	G	A	85956375	3	1	198	1	0	0	0	0	1	0	0	0	4922	1174	41	2	106	2	EED	11	85956375	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	19693238	85956375	49050141	59	4183											
ATM	472	broad.mit.edu	37	chr11	108098397	108098397	+	Frame_Shift_Del	DEL	G	G	-													ttatctgctgccgtcaactaGaacatgatagagctacagaa							TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:108098397delG	ENST00000452508.2	+	3	235	c.46delG	c.(46-48)gaafs	p.E16fs	Y_RNA_ENST00000384240.1_RNA|ATM_ENST00000278616.4_Frame_Shift_Del_p.E16fs			Q13315	ATM_HUMAN	ATM serine/threonine kinase	16					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CCGTCAACTAGAACATGATAG	0.308			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(46-48)aafs	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							131	130	130					11																	108098397		2201	4296	6497	SO:0001589	frameshift_variant	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108098397delG	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.46delG	11.37:g.108098397delG	ENSP00000388058:p.Glu16fs	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Frame_Shift_Del_p.E16fs	p.E16fs	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	2	431	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	16					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Frame_Shift_Del	DEL	ENST00000452508.2	37	c.46delG	CCDS31669.1																																																																																				0.308	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		19	77						19	77	---	---	---	---	-	108098397	G	-	108098397	7	5	198	1	0	1	0	1	0	0	0	0	1109	943	33	0	48	0	ATM	11	108098397	Frame_Shift_Del	DEL	G	TCGA-EL-A3CT-01A-12D-A202-08	22142022	108098397	26908119	60	4184											
KIAA1467	57613	broad.mit.edu	37	chr12	13224331	13224331	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgcatctcccaattccGtgagtgagcctgggagggtc	13	12	1	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr12:13224331G>A	ENST00000197268.8	+	10	1644		c.e10+1			NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467							integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TCCCAATTCCGTGAGTGAGCC	0.517																																						ENST00000197268.8																			0				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36						c.e10+1		KIAA1467							70	68	68					12																	13224331		2203	4300	6503	SO:0001630	splice_region_variant	57613					integral to membrane		g.chr12:13224331G>A	AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.1524+1G>A	12.37:g.13224331G>A								NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.157)	10	1644	+		Prostate(47;0.184)						Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Splice_Site	SNP	ENST00000197268.8	37		CCDS31750.1	.	.	.	.	.	.	.	.	.	.	g	14.68	2.608146	0.46527	.	.	ENSG00000084444	ENST00000197268;ENST00000537625	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4621	0.84064	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA1467	13115598	1.000000	0.71417	0.952000	0.39060	0.390000	0.30446	6.119000	0.71590	2.553000	0.86117	0.558000	0.71614	.		0.517	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853	Intron	22	57	0	0	0	0.010504	0	22	57					A	13224331	G	A	13224331	5	1	198	1	0	0	0	0	0	0	1	0	8235	1159	40	1	1563	1	KIAA1467	12	13224331	Splice_Site	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08		13224331	120627564	61	4185											
KRT18	3875	broad.mit.edu	37	chr12	53346038	53346038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agggacagcgccaggcccagGagtatgaggccctgctgaac	15	12	0	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr12:53346038G>A	ENST00000388835.3	+	6	1294	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K	KRT8_ENST00000549198.1_5'Flank|KRT8_ENST00000546897.1_5'Flank|KRT18_ENST00000388837.2_Missense_Mutation_p.E362K|KRT8_ENST00000552551.1_5'Flank|AC107016.2_ENST00000581256.1_RNA|KRT18_ENST00000550600.1_Missense_Mutation_p.E362K	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	362	Coil 2.|Interaction with DNAJB6.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis (GO:0009653)|cell cycle (GO:0007049)|extrinsic apoptotic signaling pathway (GO:0097191)|Golgi to plasma membrane CFTR protein transport (GO:0043000)|hepatocyte apoptotic process (GO:0097284)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of apoptotic process (GO:0043066)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell periphery (GO:0071944)|centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						CCAGGCCCAGGAGTATGAGGC	0.627																																						ENST00000550600.1																			0				central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						c.(1084-1086)Gag>Aag		keratin 18							15	17	16					12																	53346038		2201	4297	6498	SO:0001583	missense	3875				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr12:53346038G>A		CCDS31809.1	12q13	2013-01-16			ENSG00000111057	ENSG00000111057		"-", "Intermediate filaments type I, keratins (acidic)"	6430	protein-coding gene	gene with protein product		148070				1705144, 16831889	Standard	NM_000224		Approved		uc001sbg.3	P05783	OTTHUMG00000169882	ENST00000388835.3:c.1084G>A	12.37:g.53346038G>A	ENSP00000373487:p.Glu362Lys					KRT18_ENST00000388837.2_Missense_Mutation_p.E362K|KRT18_ENST00000388835.3_Missense_Mutation_p.E362K	p.E362K			P05783	K1C18_HUMAN			7	1138	+			362			Coil 2.|Interaction with DNAJB6.|Necessary for interaction with PNN.|Rod.		Q53G38|Q5U0N8|Q9BW26	Missense_Mutation	SNP	ENST00000388835.3	37	c.1084G>A	CCDS31809.1	.	.	.	.	.	.	.	.	.	.	g	22.3	4.266997	0.80469	.	.	ENSG00000111057	ENST00000388837;ENST00000550600;ENST00000388835	D;D;D	0.93712	-3.27;-3.27;-3.27	4.0	4.0	0.46444	Filament (1);	0.000000	0.56097	D	0.000030	D	0.95118	0.8418	M	0.93016	3.37	0.80722	D	1	B;P	0.35944	0.245;0.529	B;B	0.40477	0.222;0.33	D	0.96150	0.9107	10	0.72032	D	0.01	.	14.3934	0.66996	0.0:0.0:1.0:0.0	.	362;362	F8VZY9;P05783	.;K1C18_HUMAN	K	362	ENSP00000373489:E362K;ENSP00000447278:E362K;ENSP00000373487:E362K	ENSP00000373487:E362K	E	+	1	0	KRT18	51632305	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.689000	0.84165	2.535000	0.85469	0.561000	0.74099	GAG		0.627	KRT18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406405.1	NM_199187		4	12	0	0	0	0.009096	0	4	12					A	53346038	G	A	53346038	3	1	198	1	0	0	0	0	1	0	0	0	8455	1175	41	2	1106	2	KRT18	12	53346038	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	40121707	53346038	80505857	62	4186											
ERBB3	2065	broad.mit.edu	37	chr12	56490857	56490857	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccattggcagcctggaccAtgcccacattgtaaggctgc	12	13	0	0			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr12:56490857A>G	ENST00000267101.3	+	20	2743	c.2303A>G	c.(2302-2304)cAt>cGt	p.H768R	ERBB3_ENST00000553131.1_Missense_Mutation_p.H9R|ERBB3_ENST00000549832.1_5'Flank|ERBB3_ENST00000450146.2_Missense_Mutation_p.H125R|ERBB3_ENST00000415288.2_Missense_Mutation_p.H709R	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	768	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AGCCTGGACCATGCCCACATT	0.502																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(2302-2304)cAt>cGt		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							103	84	91					12																	56490857		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56490857A>G	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.2303A>G	12.37:g.56490857A>G	ENSP00000267101:p.His768Arg					ERBB3_ENST00000553131.1_Missense_Mutation_p.H9R|ERBB3_ENST00000450146.2_Missense_Mutation_p.H125R|ERBB3_ENST00000415288.2_Missense_Mutation_p.H709R	p.H768R	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		20	2743	+			768			Protein kinase.		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.2303A>G	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.579004	0.86645	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000553131	T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73	5.59	5.59	0.84812	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.88683	0.6503	H	0.95260	3.645	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91898	0.5529	10	0.87932	D	0	.	15.0473	0.71838	1.0:0.0:0.0:0.0	.	768	P21860	ERBB3_HUMAN	R	768;125;709;9	ENSP00000267101:H768R;ENSP00000399178:H125R;ENSP00000408340:H709R;ENSP00000449129:H9R	ENSP00000267101:H768R	H	+	2	0	ERBB3	54777124	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	9.014000	0.93635	2.254000	0.74563	0.459000	0.35465	CAT		0.502	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			16	98	0	0	0	0.028581	0	16	98					G	56490857	A	G	56490857	3	3	198	1	0	0	0	0	1	0	0	0	5208	217	8	3	2512	3	ERBB3	12	56490857	Missense_Mutation	SNP	A	TCGA-EL-A3CT-01A-12D-A202-08	3144819	56490857	77361038	63	4187											
DUSP6	1848	broad.mit.edu	37	chr12	89745586	89745586	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcccggtcctcgccgcgcgtGaagagcgcgcgcaccggcag	15	17	0	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr12:89745586G>A	ENST00000279488.7	-	1	1462	c.231C>T	c.(229-231)ttC>ttT	p.F77F	DUSP6_ENST00000547140.1_5'Flank|DUSP6_ENST00000547291.1_5'Flank|DUSP6_ENST00000308385.6_Silent_p.F77F	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	77	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.		F -> I (in HH19). {ECO:0000269|PubMed:23643382}.		cell differentiation (GO:0030154)|dorsal/ventral pattern formation (GO:0009953)|inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of apoptotic process (GO:0043065)|regulation of endodermal cell fate specification (GO:0042663)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of heart growth (GO:0060420)|response to drug (GO:0042493)|response to nitrosative stress (GO:0051409)|response to organic cyclic compound (GO:0014070)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						CGCCGCGCGTGAAGAGCGCGC	0.662																																					Colon(132;3456 5224)	ENST00000279488.7																			0				large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						c.(229-231)ttC>ttT		dual specificity phosphatase 6							14	14	14					12																	89745586		2180	4272	6452	SO:0001819	synonymous_variant	1848				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr12:89745586G>A	BC037236	CCDS9033.1, CCDS9034.1	12q22-q23	2011-06-09				ENSG00000139318		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3072	protein-coding gene	gene with protein product		602748				8626780, 9205128	Standard	NM_001946		Approved	MKP-3, PYST1	uc001tay.3	Q16828		ENST00000279488.7:c.231C>T	12.37:g.89745586G>A						DUSP6_ENST00000308385.6_Silent_p.F77F	p.F77F	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN			1	1462	-			77			Rhodanese.		O75109|Q53Y75|Q9BSH6	Silent	SNP	ENST00000279488.7	37	c.231C>T	CCDS9033.1																																																																																				0.662	DUSP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406534.2	NM_001946, NM_022652		5	22	0	0	0	0.021553	0	5	22					A	89745586	G	A	89745586	2	1	198	1	0	0	0	0	0	0	0	1	4829	1281	45	2		2	DUSP6	12	89745586	Silent	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	33254729	89745586	44106309	64	4188											
ATP12A	479	broad.mit.edu	37	chr13	25262595	25262595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatcctcctgtgggtgggcGcctttctctgttggattgca	12	11	1	0	rs149324896		TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr13:25262595G>A	ENST00000381946.3	+	4	534	c.367G>A	c.(367-369)Gcc>Acc	p.A123T	ATP12A_ENST00000218548.6_Missense_Mutation_p.A123T			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	123					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		GTGGGTGGGCGCCTTTCTCTG	0.572																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			0				breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(367-369)Gcc>Acc		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)	G	THR/ALA,THR/ALA	0,4406		0,0,2203	228	233	232		367,367	5.1	0.1	13	dbSNP_134	232	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ATP12A	NM_001185085.1,NM_001676.5	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	123/1046,123/1040	25262595	1,13005	2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25262595G>A	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"ATPases / P-type"	13816	protein-coding gene	gene with protein product	"ATPase, Na+K+ transporting, alpha-1 polypeptide-like", "potassium-transporting ATPase alpha chain 2", "proton pump", "non-gastric H(+)/K(+) ATPase alpha subunit", "sodium/potassium ATPase, alpha polypeptide-like"	182360	"ATPase, Na+/K+ transporting, alpha polypeptide-like 1"	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.367G>A	13.37:g.25262595G>A	ENSP00000371372:p.Ala123Thr					ATP12A_ENST00000381946.3_Missense_Mutation_p.A123T	p.A123T	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	4	700	+		Lung SC(185;0.0225)|Breast(139;0.077)	123					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.367G>A	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857469	0.51376	0.0	1.16E-4	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.85339	-1.97;-1.97	5.06	5.06	0.68205	ATPase, P-type cation-transporter, N-terminal (2);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.64402	D	0.000002	D	0.89280	0.6670	M	0.85197	2.74	0.80722	D	1	P;D	0.54047	0.948;0.964	P;B	0.48141	0.568;0.369	D	0.91355	0.5107	10	0.87932	D	0	.	15.9701	0.80008	0.0:0.0:1.0:0.0	.	123;123	P54707-2;P54707	.;AT12A_HUMAN	T	123	ENSP00000218548:A123T;ENSP00000371372:A123T	ENSP00000218548:A123T	A	+	1	0	ATP12A	24160595	1.000000	0.71417	0.071000	0.20095	0.020000	0.10135	6.296000	0.72751	2.624000	0.88883	0.655000	0.94253	GCC		0.572	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		90	365	0	0	0	0.01441	0	90	365					A	25262595	G	A	25262595	3	1	198	1	0	0	0	0	1	0	0	0	1122	1087	38	1	381	1	ATP12A	13	25262595	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08		25262595	89907283	65	4189											
THSD1	55901	broad.mit.edu	37	chr13	52971918	52971918	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcttgtccacaggaaacGggcacagtggttgactggta	15	8	0	1	rs377383416		TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr13:52971918G>A	ENST00000258613.4	-	3	648	c.470C>T	c.(469-471)cCg>cTg	p.P157L	THSD1_ENST00000544466.1_Intron|RNY4P24_ENST00000362735.1_RNA|THSD1_ENST00000349258.4_Missense_Mutation_p.P157L	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	157					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)		CACAGGAAACGGGCACAGTGG	0.498																																						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.(469-471)cCg>cTg		thrombospondin, type I, domain containing 1							100	85	90					13																	52971918		2203	4300	6503	SO:0001583	missense	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52971918G>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.470C>T	13.37:g.52971918G>A	ENSP00000258613:p.Pro157Leu					THSD1_ENST00000258613.4_Missense_Mutation_p.P157L|THSD1_ENST00000544466.1_Intron	p.P157L	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	3	1014	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	157					A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	c.470C>T	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	G	2.779	-0.254001	0.05829	.	.	ENSG00000136114	ENST00000349258;ENST00000258613;ENST00000378095	T;T	0.17213	2.29;2.46	5.54	0.591	0.17465	.	0.650212	0.15529	N	0.257584	T	0.10078	0.0247	L	0.31926	0.97	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.08055	0.001;0.003	T	0.35773	-0.9775	10	0.21014	T	0.42	4.0E-4	4.6539	0.12608	0.4049:0.0:0.4546:0.1405	.	157;157	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	L	157	ENSP00000340650:P157L;ENSP00000258613:P157L	ENSP00000258613:P157L	P	-	2	0	THSD1	51869919	0.015000	0.18098	0.000000	0.03702	0.043000	0.13939	0.691000	0.25467	-0.220000	0.09988	0.561000	0.74099	CCG		0.498	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			8	85	0	0	0	0.038147	0	8	85					A	52971918	G	A	52971918	3	1	198	1	0	0	0	0	1	0	0	0	15874	1116	39	1	2100	1	THSD1	13	52971918	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	27709323	52971918	62197960	66	4190											
DIS3	22894	broad.mit.edu	37	chr13	73349381	73349381	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcttcttctttctccacatCttcttcattttgaccttcat	1	14	8	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr13:73349381C>T	ENST00000377767.4	-	6	1055	c.955G>A	c.(955-957)Gat>Aat	p.D319N	DIS3_ENST00000377780.4_Missense_Mutation_p.D289N|DIS3_ENST00000545453.1_Missense_Mutation_p.D157N	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	319					CUT catabolic process (GO:0071034)|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)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TTCTCCACATCTTCTTCATTT	0.393										Multiple Myeloma(4;0.011)																												ENST00000377767.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35						c.(955-957)Gat>Aat		DIS3 mitotic control homolog (S. cerevisiae)							124	128	127					13																	73349381		2203	4300	6503	SO:0001583	missense	22894				CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding	g.chr13:73349381C>T	AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"exosome component 11"	607533	"KIAA1008", "DIS3 mitotic control homolog (S. cerevisiae)"	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.955G>A	13.37:g.73349381C>T	ENSP00000366997:p.Asp319Asn	Multiple Myeloma(4;0.011)				DIS3_ENST00000545453.1_Missense_Mutation_p.D157N|DIS3_ENST00000377780.4_Missense_Mutation_p.D289N	p.D319N	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN		GBM - Glioblastoma multiforme(99;0.000181)	6	1055	-		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)	319					A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	ENST00000377767.4	37	c.955G>A	CCDS9447.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.165698	0.57476	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.43294	0.95;0.95;0.95	6.06	5.23	0.72850	.	0.137236	0.64402	N	0.000004	T	0.44286	0.1286	M	0.70108	2.13	0.58432	D	0.999998	B;B	0.13145	0.005;0.007	B;B	0.18561	0.022;0.02	T	0.34775	-0.9815	10	0.39692	T	0.17	.	13.483	0.61348	0.0:0.8702:0.0:0.1298	.	289;319	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	N	319;289;157	ENSP00000366997:D319N;ENSP00000367011:D289N;ENSP00000440058:D157N	ENSP00000366997:D319N	D	-	1	0	DIS3	72247382	0.988000	0.35896	0.993000	0.49108	0.983000	0.72400	2.663000	0.46774	1.574000	0.49760	0.650000	0.86243	GAT		0.393	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953		22	99	0	0	0	0.012319	0	22	99					T	73349381	C	T	73349381	3	4	198	1	0	0	0	0	1	0	0	0	4535	913	32	2	1985	2	DIS3	13	73349381	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	20377463	73349381	41820497	67	4191											
FAM155A	728215	broad.mit.edu	37	chr13	107823105	107823105	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gacgtcacagcattctggttCatcattggttagaaaggttt	10	7	4	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr13:107823105C>T	ENST00000375915.2	-	3	1255	c.1117G>A	c.(1117-1119)Gaa>Aaa	p.E373K		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	373						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CATTCTGGTTCATCATTGGTT	0.443																																						ENST00000375915.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(1117-1119)Gaa>Aaa		family with sequence similarity 155, member A							163	133	143					13																	107823105		2203	4300	6503	SO:0001583	missense	728215					integral to membrane	binding	g.chr13:107823105C>T	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.1117G>A	13.37:g.107823105C>T	ENSP00000365080:p.Glu373Lys						p.E373K	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			3	1255	-			373					B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.1117G>A	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880202	0.72294	.	.	ENSG00000204442	ENST00000375915	T	0.11495	2.77	5.58	5.58	0.84498	.	0.116985	0.56097	D	0.000029	T	0.16300	0.0392	L	0.57536	1.79	0.53688	D	0.999971	P	0.39480	0.675	B	0.38428	0.273	T	0.00785	-1.1567	10	0.62326	D	0.03	.	18.6257	0.91336	0.0:1.0:0.0:0.0	.	373	B1AL88	F155A_HUMAN	K	373	ENSP00000365080:E373K	ENSP00000365080:E373K	E	-	1	0	FAM155A	106621106	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.806000	0.62569	2.626000	0.88956	0.644000	0.83932	GAA		0.443	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		5	66	0	0	0	0.02938	0	5	66					T	107823105	C	T	107823105	3	4	198	1	0	0	0	0	1	0	0	0	5465	835	29	2	263	2	FAM155A	13	107823105	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	34473724	107823105	7346773	68	4192											
OR4K17	390436	broad.mit.edu	37	chr14	20586459	20586459	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cccttcggcaaccactctgtAgataagttccttgctgtgtt	8	12	1	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr14:20586459A>T	ENST00000315543.4	+	1	894	c.894A>T	c.(892-894)gtA>gtT	p.V298V		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		ACCACTCTGTAGATAAGTTCC	0.398																																						ENST00000315543.4																			0				kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21						c.(892-894)gtA>gtT		olfactory receptor, family 4, subfamily K, member 17							89	82	84					14																	20586459		2203	4300	6503	SO:0001819	synonymous_variant	390436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20586459A>T		CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"GPCR / Class A : Olfactory receptors"	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.894A>T	14.37:g.20586459A>T							p.V298V	NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	894	+	all_cancers(95;0.00108)		270					Q6IF12	Silent	SNP	ENST00000315543.4	37	c.894A>T	CCDS32030.1																																																																																				0.398	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1			13	44	0	0	0	0.013537	0	13	44					T	20586459	A	T	20586459	2	4	198	1	0	0	0	0	0	0	0	1	11071	407	15	5		5	OR4K17	14	20586459	Silent	SNP	A	TCGA-EL-A3CT-01A-12D-A202-08		20586459	86763081	69	4193											
LRP10	26020	broad.mit.edu	37	chr14	23346174	23346174	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agtgctgggcaacctgcgttCtctgctacagatcttacgcc	10	13	2	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr14:23346174C>T	ENST00000359591.4	+	7	2271	c.1580C>T	c.(1579-1581)tCt>tTt	p.S527F	LRP10_ENST00000546834.1_Missense_Mutation_p.S527F|LRP10_ENST00000470660.1_3'UTR	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	527					endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		AACCTGCGTTCTCTGCTACAG	0.622																																						ENST00000359591.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32						c.(1579-1581)tCt>tTt		low density lipoprotein receptor-related protein 10							63	59	60					14																	23346174		2203	4300	6503	SO:0001583	missense	26020				endocytosis	coated pit|integral to membrane		g.chr14:23346174C>T	AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"Low density lipoprotein receptors"	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.1580C>T	14.37:g.23346174C>T	ENSP00000352601:p.Ser527Phe					LRP10_ENST00000470660.1_3'UTR|LRP10_ENST00000546834.1_Missense_Mutation_p.527_527insF	p.S527F	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN		GBM - Glioblastoma multiforme(265;0.00549)	7	2271	+	all_cancers(95;4.69e-05)		527					A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Missense_Mutation	SNP	ENST00000359591.4	37	c.1580C>T	CCDS9578.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979984	0.74360	.	.	ENSG00000197324	ENST00000359591;ENST00000546834	D;D	0.94280	-3.16;-3.39	5.13	5.13	0.70059	.	0.316684	0.33364	N	0.005000	D	0.95017	0.8387	L	0.53249	1.67	0.41694	D	0.98936	D	0.71674	0.998	P	0.61940	0.896	D	0.95220	0.8333	10	0.59425	D	0.04	-18.1735	15.8424	0.78861	0.0:1.0:0.0:0.0	.	527	Q7Z4F1	LRP10_HUMAN	F	527	ENSP00000352601:S527F;ENSP00000447559:S527F	ENSP00000352601:S527F	S	+	2	0	LRP10	22416014	0.991000	0.36638	1.000000	0.80357	0.979000	0.70002	2.608000	0.46308	2.557000	0.86248	0.563000	0.77884	TCT		0.622	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			22	62	0	0	0	0.014323	0	22	62					T	23346174	C	T	23346174	3	4	198	1	0	0	0	0	1	0	0	0	8952	913	32	2	1606	2	LRP10	14	23346174	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	2759715	23346174	84003366	70	4194											
NFATC4	4776	broad.mit.edu	37	chr14	24839163	24839163	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcttcttctccgatgcctctGacgaggcagccctgtatgca	10	14	3	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr14:24839163G>A	ENST00000250373.4	+	2	700	c.559G>A	c.(559-561)Gac>Aac	p.D187N	NFATC4_ENST00000554050.1_Missense_Mutation_p.D187N|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000556169.1_Missense_Mutation_p.D175N|NFATC4_ENST00000553708.1_Missense_Mutation_p.D187N|NFATC4_ENST00000413692.2_Missense_Mutation_p.D250N|NFATC4_ENST00000557451.1_Missense_Mutation_p.D117N|NFATC4_ENST00000539237.2_Missense_Mutation_p.D219N|NFATC4_ENST00000556279.1_Missense_Mutation_p.D219N|NFATC4_ENST00000554344.1_Missense_Mutation_p.D117N|NFATC4_ENST00000554591.1_Missense_Mutation_p.D250N|NFATC4_ENST00000555590.1_Missense_Mutation_p.D200N|NFATC4_ENST00000555453.1_Missense_Mutation_p.D175N|NFATC4_ENST00000422617.3_Missense_Mutation_p.D175N|NFATC4_ENST00000555167.1_5'Flank|NFATC4_ENST00000424781.2_Missense_Mutation_p.D200N|NFATC4_ENST00000553879.1_Missense_Mutation_p.D117N|NFATC4_ENST00000554966.1_Missense_Mutation_p.D200N|NFATC4_ENST00000553469.1_Missense_Mutation_p.D219N|NFATC4_ENST00000554661.1_Missense_Mutation_p.D117N|NFATC4_ENST00000554473.1_5'Flank|NFATC4_ENST00000556759.1_5'Flank	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	187	Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CGATGCCTCTGACGAGGCAGC	0.682																																						ENST00000413692.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34						c.(748-750)Gac>Aac		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4							23	25	24					14																	24839163		2157	4264	6421	SO:0001583	missense	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24839163G>A	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"Nuclear factor of activated T-cells"	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.559G>A	14.37:g.24839163G>A	ENSP00000250373:p.Asp187Asn					NFATC4_ENST00000557451.1_Missense_Mutation_p.D117N|NFATC4_ENST00000553708.1_Missense_Mutation_p.D187N|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000554050.1_Missense_Mutation_p.D187N|NFATC4_ENST00000424781.2_Missense_Mutation_p.D200N|NFATC4_ENST00000555453.1_Missense_Mutation_p.D175N|NFATC4_ENST00000554661.1_Missense_Mutation_p.D117N|NFATC4_ENST00000553879.1_Missense_Mutation_p.D117N|NFATC4_ENST00000553469.1_Missense_Mutation_p.D219N|NFATC4_ENST00000554966.1_Missense_Mutation_p.D200N|NFATC4_ENST00000554344.1_Missense_Mutation_p.D117N|NFATC4_ENST00000250373.4_Missense_Mutation_p.D187N|NFATC4_ENST00000539237.2_Missense_Mutation_p.D219N|NFATC4_ENST00000555590.1_Missense_Mutation_p.D200N|NFATC4_ENST00000422617.3_Missense_Mutation_p.D175N|NFATC4_ENST00000556279.1_Missense_Mutation_p.D219N|NFATC4_ENST00000554591.1_Missense_Mutation_p.D250N|NFATC4_ENST00000556169.1_Missense_Mutation_p.D175N	p.D250N	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	3	892	+			187			2 approximate SP repeats.|Pro-rich.		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	c.748G>A	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.215035	0.39102	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000557674;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46	3.61	3.61	0.41365	.	0.242174	0.28560	N	0.014901	T	0.23766	0.0575	N	0.22421	0.69	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.69078	0.978;0.978;0.978;0.978;0.978;0.978;0.978;0.997;0.997;0.978;0.997;0.995;0.978;0.963	P;P;P;P;P;P;P;P;P;P;P;P;P;B	0.62184	0.629;0.629;0.629;0.629;0.629;0.629;0.629;0.899;0.899;0.629;0.855;0.795;0.719;0.425	T	0.03103	-1.1072	10	0.54805	T	0.06	-6.5012	13.1146	0.59294	0.0:0.0:1.0:0.0	.	175;175;219;219;200;200;200;250;250;175;219;164;250;187	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	N	250;250;200;200;200;219;219;219;187;187;187;164;117;117;117;175;117;175;175	ENSP00000388910:D250N;ENSP00000452039:D250N;ENSP00000451224:D200N;ENSP00000450644:D200N;ENSP00000388668:D200N;ENSP00000439350:D219N;ENSP00000452270:D219N;ENSP00000451502:D219N;ENSP00000451151:D187N;ENSP00000250373:D187N;ENSP00000450590:D187N;ENSP00000452352:D164N;ENSP00000452349:D117N;ENSP00000450469:D117N;ENSP00000450733:D117N;ENSP00000451454:D175N;ENSP00000451284:D117N;ENSP00000396788:D175N;ENSP00000450686:D175N	ENSP00000250373:D187N	D	+	1	0	NFATC4	23909003	0.998000	0.40836	0.202000	0.23494	0.914000	0.54420	5.575000	0.67430	2.009000	0.58944	0.467000	0.42956	GAC		0.682	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		4	56	0	0	0	0.009096	0	4	56					A	24839163	G	A	24839163	3	1	198	1	0	0	0	0	1	0	0	0	10365	1290	45	2	758	2	NFATC4	14	24839163	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	1492989	24839163	82510377	71	4195											
TOMM20L	387990	broad.mit.edu	37	chr14	58863033	58863033	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagaaagaagagcagagcctCaaaaggctgaggagcagggc	15	8	1	5			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr14:58863033C>T	ENST00000360945.2	+	2	196	c.154C>T	c.(154-156)Caa>Taa	p.Q52*	RP11-517O13.1_ENST00000556734.1_RNA|RP11-517O13.3_ENST00000556390.1_RNA	NM_207377.2	NP_997260.1	Q6UXN7	TO20L_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)-like	52					protein targeting (GO:0006605)	integral component of membrane (GO:0016021)|mitochondrial outer membrane translocase complex (GO:0005742)				large_intestine(2)|lung(2)	4						AGCAGAGCCTCAAAAGGCTGA	0.657																																						ENST00000360945.2																			0				large_intestine(2)|lung(2)	4						c.(154-156)Caa>Taa		translocase of outer mitochondrial membrane 20 homolog (yeast)-like							63	58	60					14																	58863033		2203	4300	6503	SO:0001587	stop_gained	387990				protein targeting	integral to membrane|mitochondrial outer membrane translocase complex		g.chr14:58863033C>T		CCDS9734.1	14q23.1	2009-01-14			ENSG00000196860	ENSG00000196860			33752	protein-coding gene	gene with protein product	"translocase of outer mitochondrial membrane 20 homolog type I"					15733919	Standard	NM_207377		Approved	UNQ9438	uc001xdr.1	Q6UXN7	OTTHUMG00000140323	ENST00000360945.2:c.154C>T	14.37:g.58863033C>T	ENSP00000354204:p.Gln52*						p.Q52*	NM_207377.2	NP_997260.1	Q6UXN7	TO20L_HUMAN			2	196	+			52					B2RPR0	Nonsense_Mutation	SNP	ENST00000360945.2	37	c.154C>T	CCDS9734.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.725972	0.48833	.	.	ENSG00000196860	ENST00000360945	.	.	.	3.76	1.82	0.25136	.	2.597800	0.02540	N	0.094466	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	15.8016	5.4609	0.16615	0.0:0.6792:0.2023:0.1185	.	.	.	.	X	52	.	ENSP00000354204:Q52X	Q	+	1	0	TOMM20L	57932786	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.225000	0.17757	0.228000	0.21019	0.563000	0.77884	CAA		0.657	TOMM20L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276937.1	NM_207377		8	35	0	0	0	0.008291	0	8	35					T	58863033	C	T	58863033	4	4	198	1	0	0	0	0	0	1	0	0	16352	827	29	2	160	2	TOMM20L	14	58863033	Nonsense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	34023870	58863033	48486507	72	4196											
RAD51L1	5890	broad.mit.edu	37	chr14	68758606	68758606	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctgtctgttcacaggttatCttgacgaatcagattacaac	7	10	4	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr14:68758606C>T	ENST00000487270.1	+	8	810	c.762C>T	c.(760-762)atC>atT	p.I254I	RAD51B_ENST00000487861.1_Silent_p.I254I|RAD51B_ENST00000488612.1_Silent_p.I254I|RAD51B_ENST00000469165.2_3'UTR|RAD51B_ENST00000471583.1_Silent_p.I254I|RAD51B_ENST00000390683.3_Silent_p.I254I	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	254					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						CACAGGTTATCTTGACGAATC	0.478								Direct reversal of damage																														ENST00000487270.1																		HMGA2/RAD51B(11)	0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(760-762)atC>atT	Direct reversal of damage	RAD51 paralog B							114	110	111					14																	68758606		2203	4300	6503	SO:0001819	synonymous_variant	5890				blood coagulation|DNA repair|reciprocal meiotic recombination	nucleoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr14:68758606C>T	U84138	CCDS9789.1, CCDS9790.1	14q23-q24.2	2013-07-02	2013-07-02	2011-07-01	ENSG00000182185	ENSG00000182185			9822	protein-coding gene	gene with protein product		602948	"RAD51 (S. cerevisiae)-like 1", "RAD51-like 1 (S. cerevisiae)", "RAD51 homolog B (S. cerevisiae)"	RAD51L1		6261043, 9207106	Standard	NM_002877		Approved	REC2, hREC2, R51H2	uc001xkf.2	O15315	OTTHUMG00000157530	ENST00000487270.1:c.762C>T	14.37:g.68758606C>T						RAD51B_ENST00000390683.3_Silent_p.I254I|RAD51B_ENST00000469165.2_3'UTR|RAD51B_ENST00000487861.1_Silent_p.I254I|RAD51B_ENST00000488612.1_Silent_p.I254I|RAD51B_ENST00000471583.1_Silent_p.I254I	p.I254I	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN			8	810	+			254					O60914|O75210|Q3Y4F8|Q6FHX8|Q86SY3|Q86SY4|Q86TR0|Q86U92|Q86U93|Q86U94|Q8N6H4|Q9UPL5	Silent	SNP	ENST00000487270.1	37	c.762C>T	CCDS9789.1																																																																																				0.478	RAD51B-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349063.1			30	74	0	0	0	0.037714	0	30	74					T	68758606	C	T	68758606	2	4	198	1	0	0	0	0	0	0	0	1	12989	903	32	2		2	RAD51L1	14	68758606	Silent	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	9895573	68758606	38590934	73	4197											
GLCE	26035	broad.mit.edu	37	chr15	69561469	69561469	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcgctgggactatcatacCacccacatcaatcagttgca	7	14	3	0			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr15:69561469C>T	ENST00000261858.2	+	5	1968	c.1740C>T	c.(1738-1740)acC>acT	p.T580T	GLCE_ENST00000559420.2_Silent_p.T516T	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	580					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						ACTATCATACCACCCACATCA	0.502																																						ENST00000261858.2																			0				NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(1738-1740)acC>acT		glucuronic acid epimerase							215	209	211					15																	69561469		2200	4298	6498	SO:0001819	synonymous_variant	26035				heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity	g.chr15:69561469C>T	AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"heparan sulfate epimerase"	612134	"D-glucuronyl C5-epimerase", "UDP-glucuronic acid epimerase"			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.1740C>T	15.37:g.69561469C>T						GLCE_ENST00000559420.2_Silent_p.T516T	p.T580T	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN			5	1968	+			580					Q6GUQ2	Silent	SNP	ENST00000261858.2	37	c.1740C>T	CCDS32277.1																																																																																				0.502	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015554		72	222	0	0	0	0.01441	0	72	222					T	69561469	C	T	69561469	2	4	198	1	0	0	0	0	0	0	0	1	6432	581	21	2		2	GLCE	15	69561469	Silent	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08		69561469	32969923	74	4198											
ZNF710	374655	broad.mit.edu	37	chr15	90611785	90611785	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actgaatgcggcatggagttCagccagattcaccacctcaa	9	12	3	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr15:90611785C>T	ENST00000268154.4	+	2	1667	c.1416C>T	c.(1414-1416)ttC>ttT	p.F472F		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	472					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)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			GCATGGAGTTCAGCCAGATTC	0.577																																						ENST00000268154.4																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19						c.(1414-1416)ttC>ttT		zinc finger protein 710							196	179	185					15																	90611785		2200	4298	6498	SO:0001819	synonymous_variant	374655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:90611785C>T	AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"Zinc fingers, C2H2-type"	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.1416C>T	15.37:g.90611785C>T							p.F472F	NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)		2	1667	+	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		472					A0AVS3|Q6ZMK9|Q8NDU0	Silent	SNP	ENST00000268154.4	37	c.1416C>T	CCDS10358.1																																																																																				0.577	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313423.1	NM_198526		15	167	0	0	0	0.024245	0	15	167					T	90611785	C	T	90611785	2	4	198	1	0	0	0	0	0	0	0	1	18112	825	29	2		2	ZNF710	15	90611785	Silent	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	21050316	90611785	11919607	75	4199											
CLDN6	9074	broad.mit.edu	37	chr16	3065427	3065427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggggcagatgttgagtagCgggccatgtaatggctgggg	19	6	0	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr16:3065427C>T	ENST00000396925.1	-	3	1024	c.596G>A	c.(595-597)cGc>cAc	p.R199H	CLDN6_ENST00000572154.1_Intron|CLDN6_ENST00000328796.4_Missense_Mutation_p.R199H			P56747	CLD6_HUMAN	claudin 6	199					calcium-independent cell-cell adhesion (GO:0016338)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TGTTGAGTAGCGGGCCATGTA	0.652																																						ENST00000396925.1																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(595-597)cGc>cAc		claudin 6							44	51	48					16																	3065427		2198	4300	6498	SO:0001583	missense	9074				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr16:3065427C>T	AJ249735	CCDS10488.1	16p13.3	2008-08-01			ENSG00000184697	ENSG00000184697		"Claudins"	2048	protein-coding gene	gene with protein product		615798				9892664, 18234789	Standard	NM_021195		Approved		uc002csu.4	P56747	OTTHUMG00000128999	ENST00000396925.1:c.596G>A	16.37:g.3065427C>T	ENSP00000380131:p.Arg199His					CLDN6_ENST00000572154.1_Intron|CLDN6_ENST00000328796.4_Missense_Mutation_p.R199H	p.R199H			P56747	CLD6_HUMAN			3	1024	-			199					B3KQP9|D3DUA5	Missense_Mutation	SNP	ENST00000396925.1	37	c.596G>A	CCDS10488.1	.	.	.	.	.	.	.	.	.	.	C	7.394	0.631414	0.14322	.	.	ENSG00000184697	ENST00000396925;ENST00000328796	D;D	0.84730	-1.89;-1.89	4.77	1.69	0.24217	.	0.408988	0.23375	N	0.048872	T	0.66655	0.2811	N	0.08118	0	0.25098	N	0.990805	B	0.09022	0.002	B	0.04013	0.001	T	0.56703	-0.7935	10	0.48119	T	0.1	.	5.8754	0.18826	0.1535:0.6759:0.0:0.1706	.	199	P56747	CLD6_HUMAN	H	199	ENSP00000380131:R199H;ENSP00000328674:R199H	ENSP00000328674:R199H	R	-	2	0	CLDN6	3005428	0.030000	0.19436	0.955000	0.39395	0.438000	0.31896	0.158000	0.16422	0.311000	0.23014	0.561000	0.74099	CGC		0.652	CLDN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250988.1	NM_021195		28	88	0	0	0	0.037714	0	28	88					T	3065427	C	T	3065427	3	4	198	1	0	0	0	0	1	0	0	0	3489	768	27	1	70	1	CLDN6	16	3065427	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08		3065427	87289326	76	4200											
ZNF646	9726	broad.mit.edu	37	chr16	31089468	31089468	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaggaaaatagcagaacagAgaccacaatgtcacctccta	7	10	1	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr16:31089468A>C	ENST00000394979.2	+	1	2246	c.1823A>C	c.(1822-1824)gAg>gCg	p.E608A	ZNF646_ENST00000300850.5_Missense_Mutation_p.E608A			O15015	ZN646_HUMAN	zinc finger protein 646	608					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(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						AGCAGAACAGAGACCACAATG	0.537																																						ENST00000394979.2																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(1822-1824)gAg>gCg		zinc finger protein 646							129	120	123					16																	31089468		2197	4300	6497	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31089468A>C	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.1823A>C	16.37:g.31089468A>C	ENSP00000378429:p.Glu608Ala					ZNF646_ENST00000300850.5_Missense_Mutation_p.E608A	p.E608A			O15015	ZN646_HUMAN			1	2246	+			608					Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.1823A>C		.	.	.	.	.	.	.	.	.	.	A	1.963	-0.438316	0.04636	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.08984	3.03;3.05	5.2	4.12	0.48240	.	.	.	.	.	T	0.08223	0.0205	L	0.31578	0.945	0.22317	N	0.999204	B	0.19583	0.037	B	0.24701	0.055	T	0.28202	-1.0051	9	0.62326	D	0.03	-4.4068	10.1156	0.42589	0.9203:0.0:0.0797:0.0	.	608	O15015-2	.	A	608	ENSP00000300850:E608A;ENSP00000378429:E608A	ENSP00000300850:E608A	E	+	2	0	ZNF646	30996969	0.990000	0.36364	0.632000	0.29296	0.181000	0.23173	3.102000	0.50291	1.018000	0.39521	0.533000	0.62120	GAG		0.537	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		13	84	0	0	0	0.013537	0	13	84					C	31089468	A	C	31089468	3	2	198	1	0	0	0	0	1	0	0	0	18059	304	11	5	1825	5	ZNF646	16	31089468	Missense_Mutation	SNP	A	TCGA-EL-A3CT-01A-12D-A202-08	28024041	31089468	59265285	77	4201											
CHD9	80205	broad.mit.edu	37	chr16	53262947	53262947	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcagcttttgaaagataaaAggatccagcagaaaatcaaa	8	6	1	3			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr16:53262947A>G	ENST00000398510.3	+	7	2308	c.2221A>G	c.(2221-2223)Agg>Ggg	p.R741G	CHD9_ENST00000447540.1_Missense_Mutation_p.R741G|CHD9_ENST00000564845.1_Missense_Mutation_p.R741G|CHD9_ENST00000566029.1_Missense_Mutation_p.R741G			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	741	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GAAAGATAAAAGGATCCAGCA	0.318																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(2221-2223)Agg>Ggg		chromodomain helicase DNA binding protein 9							38	33	35					16																	53262947		1804	4073	5877	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53262947A>G	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.2221A>G	16.37:g.53262947A>G	ENSP00000381522:p.Arg741Gly					CHD9_ENST00000447540.1_Missense_Mutation_p.R741G|CHD9_ENST00000398510.3_Missense_Mutation_p.R741G|CHD9_ENST00000564845.1_Missense_Mutation_p.R741G	p.R741G			Q3L8U1	CHD9_HUMAN			8	2430	+		all_cancers(37;0.0212)	741			Chromo 1.		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.2221A>G		.	.	.	.	.	.	.	.	.	.	A	19.25	3.791836	0.70452	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	D;D	0.88046	-2.25;-2.33	5.36	5.36	0.76844	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	0.000000	0.64402	D	0.000007	D	0.93015	0.7777	M	0.82630	2.6	0.80722	D	1	D;D;D;D	0.62365	0.983;0.984;0.991;0.989	D;D;D;D	0.78314	0.943;0.954;0.991;0.985	D	0.93397	0.6757	10	0.59425	D	0.04	-11.8628	11.3756	0.49726	0.8486:0.1514:0.0:0.0	.	267;741;741;741	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	G	741;741;267	ENSP00000396345:R741G;ENSP00000381522:R741G	ENSP00000219084:R267G	R	+	1	2	CHD9	51820448	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.879000	0.69690	2.021000	0.59480	0.377000	0.23210	AGG		0.318	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		2	11	0	0	0	0.004672	0	2	11					G	53262947	A	G	53262947	3	3	198	1	0	0	0	0	1	0	0	0	3332	63	3	3	2247	3	CHD9	16	53262947	Missense_Mutation	SNP	A	TCGA-EL-A3CT-01A-12D-A202-08	22173479	53262947	37091806	78	4202											
ZC3H18	124245	broad.mit.edu	37	chr16	88690386	88690386	+	Frame_Shift_Del	DEL	C	C	-													gtcccggtccttctcttcgtCcccgtccccgtccccaacac							TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr16:88690386delC	ENST00000301011.5	+	11	2014	c.1814delC	c.(1813-1815)tccfs	p.S605fs	ZC3H18_ENST00000452588.2_Frame_Shift_Del_p.S629fs	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	605	Ser-rich.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		TTCTCTTCGTCCCCGTCCCCG	0.647																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1813-1815)tcfs		zinc finger CCCH-type containing 18							95	86	89					16																	88690386		2198	4300	6498	SO:0001589	frameshift_variant	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88690386delC	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"Zinc fingers, CCCH-type domain containing"	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1814delC	16.37:g.88690386delC	ENSP00000301011:p.Ser605fs					ZC3H18_ENST00000452588.2_Frame_Shift_Del_p.S629fs	p.S605fs	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	11	2014	+			605			Ser-rich.		Q96DG4|Q96MP7	Frame_Shift_Del	DEL	ENST00000301011.5	37	c.1814delC	CCDS10967.1																																																																																				0.647	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		24	127						24	127	---	---	---	---	-	88690386	C	-	88690386	7	5	198	1	0	1	0	1	0	0	0	0	17565	855	30	0	1852	0	ZC3H18	16	88690386	Frame_Shift_Del	DEL	C	TCGA-EL-A3CT-01A-12D-A202-08	35427439	88690386	1664367	79	4203											
ZZEF1	23140	broad.mit.edu	37	chr17	3937546	3937546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacaacctgaaacatgagtGgaaggacgtgctccaggtct	12	9	1	3			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr17:3937546G>A	ENST00000381638.2	-	40	6471	c.6347C>T	c.(6346-6348)cCa>cTa	p.P2116L		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2116							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AAACATGAGTGGAAGGACGTG	0.493																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(6346-6348)cCa>cTa		zinc finger, ZZ-type with EF-hand domain 1							81	70	74					17																	3937546		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3937546G>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.6347C>T	17.37:g.3937546G>A	ENSP00000371051:p.Pro2116Leu						p.P2116L	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			40	6471	-			2116					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.6347C>T	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	32	5.160880	0.94727	.	.	ENSG00000074755	ENST00000381638	T	0.27104	1.69	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.43722	0.1260	L	0.32530	0.975	0.80722	D	1	D;P	0.89917	1.0;0.953	D;P	0.91635	0.999;0.857	T	0.30357	-0.9981	10	0.87932	D	0	-9.8962	19.5818	0.95469	0.0:0.0:1.0:0.0	.	2116;2116	O43149-2;O43149	.;ZZEF1_HUMAN	L	2116	ENSP00000371051:P2116L	ENSP00000371051:P2116L	P	-	2	0	ZZEF1	3884295	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.187000	0.77730	2.850000	0.98022	0.650000	0.86243	CCA		0.493	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		3	80	0	0	0	0.004672	0	3	80					A	3937546	G	A	3937546	3	1	198	1	0	0	0	0	1	0	0	0	18252	1348	47	2	2602	2	ZZEF1	17	3937546	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08		3937546	77257664	80	4204											
ZZEF1	23140	broad.mit.edu	37	chr17	3984759	3984759	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtcgttcttctcaggtaaaaGaagaaggccgcctggatcct	11	10	2	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr17:3984759G>A	ENST00000381638.2	-	18	2864	c.2740C>T	c.(2740-2742)Ctt>Ttt	p.L914F	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	914							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.L914delL(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TCAGGTAAAAGAAGAAGGCCG	0.448																																						ENST00000381638.2																			1	Deletion - In frame(1)	p.L914delL(1)	large_intestine(1)	central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(2740-2742)Ctt>Ttt		zinc finger, ZZ-type with EF-hand domain 1							99	93	95					17																	3984759		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3984759G>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.2740C>T	17.37:g.3984759G>A	ENSP00000371051:p.Leu914Phe					ZZEF1_ENST00000574474.1_5'UTR	p.L914F	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			18	2864	-			914					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.2740C>T	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384224	0.61845	.	.	ENSG00000074755	ENST00000381638	T	0.22945	1.93	5.36	5.36	0.76844	.	0.068014	0.64402	D	0.000010	T	0.33904	0.0879	L	0.29908	0.895	0.49687	D	0.999817	D;D	0.76494	0.994;0.999	P;D	0.68943	0.908;0.961	T	0.10064	-1.0646	10	0.72032	D	0.01	-11.9995	7.8585	0.29495	0.1774:0.0:0.8226:0.0	.	915;914	O43149-3;O43149	.;ZZEF1_HUMAN	F	914	ENSP00000371051:L914F	ENSP00000371051:L914F	L	-	1	0	ZZEF1	3931508	0.990000	0.36364	0.971000	0.41717	0.765000	0.43378	2.160000	0.42348	2.499000	0.84300	0.591000	0.81541	CTT		0.448	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		35	79	0	0	0	0.013726	0	35	79					A	3984759	G	A	3984759	3	1	198	1	0	0	0	0	1	0	0	0	18252	942	33	2	6297	2	ZZEF1	17	3984759	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	47213	3984759	77210451	81	4205											
GLP2R	9340	broad.mit.edu	37	chr17	9760756	9760756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagaaaactccactgcacgCgcaactacatccacatgaac	5	15	0	2	rs575133662		TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr17:9760756C>T	ENST00000262441.5	+	6	1141	c.628C>T	c.(628-630)Cgc>Tgc	p.R210C	GLP2R_ENST00000574745.1_Missense_Mutation_p.R30C	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	210					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)	p.R210C(2)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	CCACTGCACGCGCAACTACAT	0.493													C|||	1	0.000199681	0	0.0014	5008	,	,		20519	0		0	False		,,,				2504	0					ENST00000262441.5																			2	Substitution - Missense(2)	p.R210C(2)	ovary(1)|endometrium(1)	endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44						c.(628-630)Cgc>Tgc		glucagon-like peptide 2 receptor	Glucagon recombinant(DB00040)						186	154	165					17																	9760756		2203	4300	6503	SO:0001583	missense	9340				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		g.chr17:9760756C>T	AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"GPCR / Class B : Glucagon receptors"	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.628C>T	17.37:g.9760756C>T	ENSP00000262441:p.Arg210Cys					GLP2R_ENST00000574745.1_Missense_Mutation_p.R30C	p.R210C	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN			6	1141	+			210					Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	37	c.628C>T	CCDS11150.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.103897	0.37145	.	.	ENSG00000065325	ENST00000396206;ENST00000304773;ENST00000262441	T	0.37058	1.22	5.28	5.28	0.74379	GPCR, family 2-like (1);	0.000000	0.40469	N	0.001095	T	0.70675	0.3251	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78940	-0.2006	10	0.87932	D	0	.	11.2655	0.49108	0.283:0.717:0.0:0.0	.	210	O95838	GLP2R_HUMAN	C	210;185;210	ENSP00000262441:R210C	ENSP00000262441:R210C	R	+	1	0	GLP2R	9701481	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	4.895000	0.63214	2.756000	0.94617	0.655000	0.94253	CGC		0.493	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			7	66	0	0	0	0.038147	0	7	66					T	9760756	C	T	9760756	3	4	198	1	0	0	0	0	1	0	0	0	6453	768	27	1	650	1	GLP2R	17	9760756	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	5775997	9760756	71434454	82	4206											
YES1	7525	broad.mit.edu	37	chr18	748002	748002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtagcgattgatcttgcttCccaccaatctccttccctgc	6	15	2	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr18:748002C>T	ENST00000584307.1	-	4	558	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K	YES1_ENST00000577961.1_Missense_Mutation_p.E135K|YES1_ENST00000314574.4_Missense_Mutation_p.E130K			P07947	YES_HUMAN	YES proto-oncogene 1, Src family tyrosine kinase	130	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glucose transport (GO:0015758)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|regulation of vascular permeability (GO:0043114)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	GATCTTGCTTCCCACCAATCT	0.433																																						ENST00000584307.1																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17						c.(388-390)Gaa>Aaa		v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	Dasatinib(DB01254)						180	160	167					18																	748002		2203	4300	6503	SO:0001583	missense	7525				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity	g.chr18:748002C>T	M15990	CCDS11824.1	18p11.31-p11.21	2014-06-26	2014-06-26		ENSG00000176105	ENSG00000176105		"SH2 domain containing"	12841	protein-coding gene	gene with protein product		164880	"v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1"			2983418	Standard	NM_005433		Approved	Yes, c-yes, HsT441	uc002kky.3	P07947	OTTHUMG00000131472	ENST00000584307.1:c.388G>A	18.37:g.748002C>T	ENSP00000462468:p.Glu130Lys					YES1_ENST00000577961.1_Missense_Mutation_p.E135K|YES1_ENST00000314574.4_Missense_Mutation_p.E130K	p.E130K			P07947	YES_HUMAN			4	558	-			130			SH3.		A6NLB3|D3DUH1	Missense_Mutation	SNP	ENST00000584307.1	37	c.388G>A	CCDS11824.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937449	0.73557	.	.	ENSG00000176105	ENST00000359834;ENST00000314574	T	0.42900	0.96	5.64	5.64	0.86602	Src homology-3 domain (5);	0.000000	0.85682	D	0.000000	T	0.30792	0.0776	N	0.13140	0.3	0.80722	D	1	B	0.24186	0.099	B	0.25759	0.063	T	0.06734	-1.0810	10	0.21540	T	0.41	.	20.0556	0.97650	0.0:1.0:0.0:0.0	.	130	P07947	YES_HUMAN	K	130	ENSP00000324740:E130K	ENSP00000324740:E130K	E	-	1	0	YES1	738002	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.918000	0.69996	2.821000	0.97095	0.484000	0.47621	GAA		0.433	YES1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440827.2	NM_005433		31	111	0	0	0	0.017118	0	31	111					T	748002	C	T	748002	3	4	198	1	0	0	0	0	1	0	0	0	17471	864	30	2	1279	2	YES1	18	748002	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08		748002	77329246	83	4207											
NOL4	8715	broad.mit.edu	37	chr18	31463212	31463212	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgataaatactcaccactGctggaagcatcattcagatt	6	9	3	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr18:31463212G>A	ENST00000261592.5	-	10	2016	c.1719C>T	c.(1717-1719)agC>agT	p.S573S	NOL4_ENST00000589544.1_Silent_p.S471S|NOL4_ENST00000269185.4_Silent_p.S357S|NOL4_ENST00000535384.1_Silent_p.S288S|NOL4_ENST00000535475.1_Silent_p.S354S|NOL4_ENST00000538587.1_Silent_p.S499S	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	573						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						ACTCACCACTGCTGGAAGCAT	0.383																																						ENST00000261592.5																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1717-1719)agC>agT		nucleolar protein 4							149	133	138					18																	31463212		2203	4300	6503	SO:0001819	synonymous_variant	8715					nucleolus	RNA binding	g.chr18:31463212G>A	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"cancer/testis antigen 125"	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1719C>T	18.37:g.31463212G>A						NOL4_ENST00000535384.1_Silent_p.S288S|NOL4_ENST00000538587.1_Silent_p.S499S|NOL4_ENST00000269185.4_Silent_p.S357S|NOL4_ENST00000535475.1_Silent_p.S354S|NOL4_ENST00000589544.1_Silent_p.S471S	p.S573S	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN			10	2016	-			573					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Silent	SNP	ENST00000261592.5	37	c.1719C>T	CCDS11907.2																																																																																				0.383	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		33	159	0	0	0	0.021022	0	33	159					A	31463212	G	A	31463212	2	1	198	1	0	0	0	0	0	0	0	1	10524	1310	46	2		2	NOL4	18	31463212	Silent	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	30715210	31463212	46614036	84	4208											
DTNA	1837	broad.mit.edu	37	chr18	32438301	32438301	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tagagcatgaacaagcttctCagcccacgccagagaaggca	10	12	1	3			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr18:32438301C>T	ENST00000399113.3	+	15	1504	c.1504C>T	c.(1504-1506)Cag>Tag	p.Q502*	DTNA_ENST00000269191.6_Nonsense_Mutation_p.Q502*|DTNA_ENST00000597674.1_Nonsense_Mutation_p.Q124*|DTNA_ENST00000556414.3_Nonsense_Mutation_p.Q154*|DTNA_ENST00000599844.1_Nonsense_Mutation_p.Q124*|DTNA_ENST00000444659.1_Nonsense_Mutation_p.Q502*|DTNA_ENST00000348997.5_Nonsense_Mutation_p.Q499*|DTNA_ENST00000601125.1_Nonsense_Mutation_p.Q124*|DTNA_ENST00000399097.3_Nonsense_Mutation_p.Q150*|DTNA_ENST00000269190.7_Nonsense_Mutation_p.Q503*|DTNA_ENST00000399121.5_Nonsense_Mutation_p.Q442*|DTNA_ENST00000269192.7_Nonsense_Mutation_p.Q211*|DTNA_ENST00000596745.1_Nonsense_Mutation_p.Q252*|DTNA_ENST00000598334.1_Nonsense_Mutation_p.Q442*|DTNA_ENST00000597599.1_Nonsense_Mutation_p.Q442*|DTNA_ENST00000598774.1_Nonsense_Mutation_p.Q445*|DTNA_ENST00000591182.1_Nonsense_Mutation_p.Q150*|DTNA_ENST00000595022.1_Nonsense_Mutation_p.Q442*|DTNA_ENST00000283365.9_Nonsense_Mutation_p.Q445*|DTNA_ENST00000598142.1_Nonsense_Mutation_p.Q445*			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	502					neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.Q502E(1)|p.Q503E(1)|p.Q503*(1)|p.Q502*(1)|p.Q150*(1)|p.Q150E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						ACAAGCTTCTCAGCCCACGCC	0.512																																						ENST00000283365.9																			6	Substitution - Missense(3)|Substitution - Nonsense(3)	p.Q502E(1)|p.Q503E(1)|p.Q503*(1)|p.Q502*(1)|p.Q150*(1)|p.Q150E(1)	lung(6)	endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1333-1335)Cag>Tag		dystrobrevin, alpha							67	65	66					18																	32438301		2203	4300	6503	SO:0001587	stop_gained	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32438301C>T	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"dystrophin-related protein 3"	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.1504C>T	18.37:g.32438301C>T	ENSP00000382064:p.Gln502*					DTNA_ENST00000596745.1_Nonsense_Mutation_p.Q252*|DTNA_ENST00000269192.7_Nonsense_Mutation_p.Q211*|DTNA_ENST00000597674.1_Nonsense_Mutation_p.Q124*|DTNA_ENST00000591182.1_Nonsense_Mutation_p.Q150*|DTNA_ENST00000556414.3_Nonsense_Mutation_p.Q154*|DTNA_ENST00000598774.1_Nonsense_Mutation_p.Q445*|DTNA_ENST00000399097.3_Nonsense_Mutation_p.Q150*|DTNA_ENST00000595022.1_Nonsense_Mutation_p.Q442*|DTNA_ENST00000599844.1_Nonsense_Mutation_p.Q124*|DTNA_ENST00000598334.1_Nonsense_Mutation_p.Q442*|DTNA_ENST00000269190.7_Nonsense_Mutation_p.Q503*|DTNA_ENST00000598142.1_Nonsense_Mutation_p.Q445*|DTNA_ENST00000399121.5_Nonsense_Mutation_p.Q442*|DTNA_ENST00000601125.1_Nonsense_Mutation_p.Q124*|DTNA_ENST00000597599.1_Nonsense_Mutation_p.Q442*|DTNA_ENST00000269191.6_Nonsense_Mutation_p.Q502*|DTNA_ENST00000399113.3_Nonsense_Mutation_p.Q502*|DTNA_ENST00000444659.1_Nonsense_Mutation_p.Q502*|DTNA_ENST00000348997.5_Nonsense_Mutation_p.Q499*	p.Q445*	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN			15	1684	+			502			Syntrophin-binding region.		A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Nonsense_Mutation	SNP	ENST00000399113.3	37	c.1333C>T	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	C	38	6.884341	0.97908	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000399114;ENST00000269190;ENST00000399097;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113;ENST00000269192;ENST00000450377;ENST00000556414	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-15.8894	19.4422	0.94825	0.0:1.0:0.0:0.0	.	.	.	.	X	445;445;442;503;150;499;502;502;502;502;211;150;154	.	ENSP00000269190:Q503X	Q	+	1	0	DTNA	30692299	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.612000	0.88384	0.650000	0.86243	CAG		0.512	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		15	80	0	0	0	0.038395	0	15	80					T	32438301	C	T	32438301	4	4	198	1	0	0	0	0	0	1	0	0	4788	827	29	2	1597	2	DTNA	18	32438301	Nonsense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	975089	32438301	45638947	85	4209											
RPRD1A	55197	broad.mit.edu	37	chr18	33647312	33647312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtctgcacgctctgctgcGagttgctcaactccgacagc	11	14	3	0			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr18:33647312G>A	ENST00000399022.4	-	1	227	c.56C>T	c.(55-57)tCg>tTg	p.S19L	RPRD1A_ENST00000590898.1_5'UTR|RPRD1A_ENST00000357384.4_Missense_Mutation_p.S19L|RPRD1A_ENST00000588737.1_5'UTR|RPRD1A_ENST00000588459.1_5'Flank|RPRD1A_ENST00000319040.6_Missense_Mutation_p.S19L	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	19	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.				dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						GCTCTGCTGCGAGTTGCTCAA	0.637																																						ENST00000399022.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						c.(55-57)tCg>tTg		regulation of nuclear pre-mRNA domain containing 1A							91	65	74					18																	33647312		2202	4300	6502	SO:0001583	missense	55197							g.chr18:33647312G>A	AF419845	CCDS11917.1	18q12.2	2012-02-09	2008-08-15		ENSG00000141425	ENSG00000141425			25560	protein-coding gene	gene with protein product	"cyclin-dependent kinase 2B-inhibitor-related protein", "Cyclin-dependent kinase inhibitor 2B-related protein (p15INK4B-related protein)"	610347				12470661, 22231121	Standard	NM_018170		Approved	P15RS, FLJ10656, HsT3101	uc002kzg.3	Q96P16	OTTHUMG00000132591	ENST00000399022.4:c.56C>T	18.37:g.33647312G>A	ENSP00000381984:p.Ser19Leu					RPRD1A_ENST00000588737.1_5'UTR|RPRD1A_ENST00000319040.6_Missense_Mutation_p.S19L|RPRD1A_ENST00000590898.1_5'UTR|RPRD1A_ENST00000357384.4_Missense_Mutation_p.S19L	p.S19L	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN			1	227	-			19			CID.		A8KA42|B2RBA3|Q7Z5G8|Q96FY9|Q9NVL4	Missense_Mutation	SNP	ENST00000399022.4	37	c.56C>T	CCDS11917.1	.	.	.	.	.	.	.	.	.	.	G	34	5.306429	0.95629	.	.	ENSG00000141425	ENST00000399022;ENST00000357384;ENST00000319040	T;T;T	0.55588	0.51;0.51;0.51	5.38	4.51	0.55191	ENTH/VHS (2);RNA polymerase II, large subunit, CTD (2);	0.000000	0.85682	D	0.000000	T	0.76428	0.3986	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.975	T	0.81413	-0.0944	10	0.87932	D	0	-4.2553	12.0771	0.53649	0.0842:0.0:0.9158:0.0	.	19;19	Q96P16-2;Q96P16	.;RPR1A_HUMAN	L	19	ENSP00000381984:S19L;ENSP00000349955:S19L;ENSP00000314602:S19L	ENSP00000314602:S19L	S	-	2	0	RPRD1A	31901310	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.457000	0.97630	1.279000	0.44446	0.561000	0.74099	TCG		0.637	RPRD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255802.1	NM_018170		4	9	0	0	0	0.009096	0	4	9					A	33647312	G	A	33647312	3	1	198	1	0	0	0	0	1	0	0	0	13615	1059	37	1	910	1	RPRD1A	18	33647312	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	1209011	33647312	44429936	86	4210											
MBD1	4152	broad.mit.edu	37	chr18	47803212	47803212	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacactcacccaggagcagGgaatgaagctggggctgtgt	14	10	1	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr18:47803212G>A	ENST00000591416.1	-	4	813	c.382C>T	c.(382-384)Cct>Tct	p.P128S	MBD1_ENST00000436910.1_Missense_Mutation_p.P128S|MBD1_ENST00000457839.2_Missense_Mutation_p.P128S|MBD1_ENST00000398493.1_Missense_Mutation_p.P128S|MBD1_ENST00000269471.5_Missense_Mutation_p.P128S|MBD1_ENST00000585595.1_Missense_Mutation_p.P128S|MBD1_ENST00000398495.2_Missense_Mutation_p.P128S|MBD1_ENST00000590208.1_Missense_Mutation_p.P128S|MBD1_ENST00000347968.3_Missense_Mutation_p.P128S|MBD1_ENST00000585672.1_Missense_Mutation_p.P128S|MBD1_ENST00000398488.1_Missense_Mutation_p.P128S|MBD1_ENST00000591535.1_Missense_Mutation_p.P128S|MBD1_ENST00000424334.2_Missense_Mutation_p.P154S|MBD1_ENST00000349085.2_Missense_Mutation_p.P128S|MBD1_ENST00000339998.6_Missense_Mutation_p.P128S|MBD1_ENST00000353909.3_Missense_Mutation_p.P128S|MBD1_ENST00000269468.5_Missense_Mutation_p.P128S|MBD1_ENST00000587605.1_Missense_Mutation_p.P128S|MBD1_ENST00000382948.5_Missense_Mutation_p.P128S|MBD1_ENST00000588937.1_Missense_Mutation_p.P128S			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	128					negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CCAGGAGCAGGGAATGAAGCT	0.602																																						ENST00000591416.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(382-384)Cct>Tct		methyl-CpG binding domain protein 1							182	169	173					18																	47803212		2203	4300	6503	SO:0001583	missense	4152				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr18:47803212G>A	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.382C>T	18.37:g.47803212G>A	ENSP00000467017:p.Pro128Ser					MBD1_ENST00000587605.1_Missense_Mutation_p.P128S|MBD1_ENST00000339998.6_Missense_Mutation_p.P128S|MBD1_ENST00000588937.1_Missense_Mutation_p.P128S|MBD1_ENST00000382948.5_Missense_Mutation_p.P128S|MBD1_ENST00000269471.5_Missense_Mutation_p.P128S|MBD1_ENST00000353909.3_Missense_Mutation_p.P128S|MBD1_ENST00000398488.1_Missense_Mutation_p.P128S|MBD1_ENST00000398495.2_Missense_Mutation_p.P128S|MBD1_ENST00000347968.3_Missense_Mutation_p.P128S|MBD1_ENST00000436910.1_Missense_Mutation_p.P128S|MBD1_ENST00000585672.1_Missense_Mutation_p.P128S|MBD1_ENST00000269468.5_Missense_Mutation_p.P128S|MBD1_ENST00000424334.2_Missense_Mutation_p.P154S|MBD1_ENST00000398493.1_Missense_Mutation_p.P128S|MBD1_ENST00000585595.1_Missense_Mutation_p.P128S|MBD1_ENST00000590208.1_Missense_Mutation_p.P128S|MBD1_ENST00000349085.2_Missense_Mutation_p.P128S|MBD1_ENST00000457839.2_Missense_Mutation_p.P128S|MBD1_ENST00000591535.1_Missense_Mutation_p.P128S	p.P128S			Q9UIS9	MBD1_HUMAN			4	813	-			128					A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	ENST00000591416.1	37	c.382C>T	CCDS11943.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053790	0.36277	.	.	ENSG00000141644	ENST00000382948;ENST00000353909;ENST00000349085;ENST00000269468;ENST00000347968;ENST00000436910;ENST00000269471;ENST00000424334;ENST00000339998;ENST00000398495;ENST00000457839;ENST00000398493;ENST00000398488	D;D;D;D;D;D;D;D;D;D;D;D;D	0.95377	-3.69;-3.61;-3.64;-3.69;-3.65;-3.64;-3.66;-3.67;-3.67;-3.63;-3.66;-3.65;-3.64	4.42	4.42	0.53409	.	0.199524	0.36034	N	0.002835	D	0.93959	0.8066	N	0.17082	0.46	0.27315	N	0.957201	P;D;B;B;B;D;B;D;B;D;B	0.89917	0.937;0.998;0.259;0.059;0.36;0.962;0.346;1.0;0.059;0.985;0.044	B;D;B;B;B;P;B;D;B;P;B	0.87578	0.304;0.993;0.099;0.059;0.161;0.741;0.204;0.998;0.059;0.888;0.026	D	0.85517	0.1201	10	0.11794	T	0.64	-3.5405	12.8319	0.57750	0.0:0.0:1.0:0.0	.	128;154;128;128;128;128;128;128;128;128;128	B4DUR3;B4DI41;Q9UIS9-8;A8K654;Q9UIS9-6;Q9UIS9-2;Q9UIS9-5;Q9UIS9-4;Q9UIS9;Q9UIS9-7;B4DXJ5	.;.;.;.;.;.;.;.;MBD1_HUMAN;.;.	S	128;128;128;128;128;128;128;154;128;128;128;128;128	ENSP00000372407:P128S;ENSP00000269469:P128S;ENSP00000342531:P128S;ENSP00000269468:P128S;ENSP00000285102:P128S;ENSP00000409561:P128S;ENSP00000269471:P128S;ENSP00000408846:P154S;ENSP00000339546:P128S;ENSP00000381508:P128S;ENSP00000405268:P128S;ENSP00000381506:P128S;ENSP00000381502:P128S	ENSP00000269468:P128S	P	-	1	0	MBD1	46057210	0.953000	0.32496	0.963000	0.40424	0.339000	0.28857	1.812000	0.38952	2.735000	0.93741	0.655000	0.94253	CCT		0.602	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846		70	192	0	0	0	0.01441	0	70	192					A	47803212	G	A	47803212	3	1	198	1	0	0	0	0	1	0	0	0	9342	1232	43	2	1681	2	MBD1	18	47803212	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	14155900	47803212	30274036	87	4211											
ZNF556	80032	broad.mit.edu	37	chr19	2877814	2877814	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcacgccggagggagaccGtatgagtgcaagcagtgtgg	17	8	0	2	rs377206346		TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr19:2877814G>A	ENST00000307635.2	+	4	945	c.858G>A	c.(856-858)ccG>ccA	p.P286P	ZNF556_ENST00000586426.1_Silent_p.P285P	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	286					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(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		GAGGGAGACCGTATGAGTGCA	0.517													G|||	1	0.000199681	0	0	5008	,	,		21210	0.001		0	False		,,,				2504	0					ENST00000586426.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31						c.(853-855)ccG>ccA		zinc finger protein 556		G		0,4406		0,0,2203	61	55	57		858	-4.3	0.0	19		57	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF556	NM_024967.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		286/457	2877814	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80032				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2877814G>A	BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"Zinc fingers, C2H2-type", "-"	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.858G>A	19.37:g.2877814G>A						ZNF556_ENST00000307635.2_Silent_p.P286P	p.P285P			Q9HAH1	ZN556_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)	4	942	+			286					Q96GM3	Silent	SNP	ENST00000307635.2	37	c.855G>A	CCDS12097.1																																																																																				0.517	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967		13	52	0	0	0	0.013537	0	13	52					A	2877814	G	A	2877814	2	1	198	1	0	0	0	0	0	0	0	1	17984	1132	40	1		1	ZNF556	19	2877814	Silent	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08		2877814	56251169	88	4212											
LONP1	257062	broad.mit.edu	37	chr19	5719905	5719905	+	5'Flank	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggaggcgtcctcgccccccGagaatgcgcctccgccgcgg	14	19	0	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr19:5719905G>A	ENST00000381624.3	+	0	0				LONP1_ENST00000360614.3_Missense_Mutation_p.S80L|LONP1_ENST00000585374.1_Intron|LONP1_ENST00000540670.2_Intron|LONP1_ENST00000590511.1_5'UTR|CATSPERD_ENST00000381614.2_5'Flank|LONP1_ENST00000590729.1_5'Flank|LONP1_ENST00000593119.1_Intron	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta						multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											CTCGCCCCCCGAGAATGCGCC	0.761																																						ENST00000360614.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(238-240)tCg>tTg		lon peptidase 1, mitochondrial							3	6	5					19																	5719905		1821	3705	5526	SO:0001631	upstream_gene_variant	9361				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	g.chr19:5719905G>A	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"transmembrane protein 146"	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036		19.37:g.5719905G>A	Exception_encountered					LONP1_ENST00000585374.1_Intron|LONP1_ENST00000540670.2_Intron|LONP1_ENST00000593119.1_Intron|LONP1_ENST00000590511.1_5'UTR	p.S80L	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN			1	396	-			80					Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.239C>T	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047575	0.36085	.	.	ENSG00000196365	ENST00000360614	T	0.18502	2.21	4.2	4.2	0.49525	.	0.160530	0.42294	D	0.000737	T	0.08802	0.0218	N	0.24115	0.695	0.80722	D	1	P;P	0.37997	0.614;0.614	B;B	0.22152	0.038;0.038	T	0.15492	-1.0435	10	0.46703	T	0.11	-2.7961	9.3579	0.38177	0.0:0.0:0.7868:0.2132	.	80;80	E5KMH8;P36776	.;LONM_HUMAN	L	80	ENSP00000353826:S80L	ENSP00000353826:S80L	S	-	2	0	LONP1	5670905	0.999000	0.42202	0.099000	0.21106	0.041000	0.13682	4.286000	0.58995	2.163000	0.67991	0.655000	0.94253	TCG		0.761	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		5	10	0	0	0	0.014758	0	5	10					A	5719905	G	A	5719905	1	1	198	0	1	0	0	0	0	0	0	0	8892	1059	37	1		1	LONP1	19	5719905	5'Flank	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	2842091	5719905	53409078	89	4213											
ARHGEF18	23370	broad.mit.edu	37	chr19	7533921	7533921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttccagaggcaggcggccGtgcagcagcagatccccacc	13	15	0	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr19:7533921G>A	ENST00000359920.6	+	17	3380	c.3127G>A	c.(3127-3129)Gtg>Atg	p.V1043M	ARHGEF18_ENST00000319670.9_Missense_Mutation_p.V885M|CTD-2207O23.3_ENST00000593531.1_Silent_p.P1000P	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	1043					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GCAGGCGGCCGTGCAGCAGCA	0.687																																						ENST00000359920.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23						c.(3127-3129)Gtg>Atg		Rho/Rac guanine nucleotide exchange factor (GEF) 18							18	18	18					19																	7533921		2180	4287	6467	SO:0001583	missense	23370				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:7533921G>A	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	17090	protein-coding gene	gene with protein product	"Rho-specific guanine nucleotide exchange factor p114"		"rho/rac guanine nucleotide exchange factor (GEF) 18"			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.3127G>A	19.37:g.7533921G>A	ENSP00000352995:p.Val1043Met					ARHGEF18_ENST00000319670.9_Missense_Mutation_p.V885M|CTD-2207O23.3_ENST00000593531.1_Silent_p.P1000P	p.V1043M	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN			17	3380	+		Renal(5;0.0902)	1043					A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	c.3127G>A	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317531	0.81469	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	T;T	0.51325	0.71;0.71	5.05	5.05	0.67936	.	0.000000	0.45361	D	0.000367	T	0.62405	0.2425	M	0.66939	2.045	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.971	T	0.59958	-0.7356	10	0.31617	T	0.26	-35.2916	11.049	0.47876	0.0:0.0:0.8143:0.1857	.	885;1043	Q6ZSZ5-2;Q6ZSZ5	.;ARHGI_HUMAN	M	885;1043	ENSP00000319200:V885M;ENSP00000352995:V1043M	ENSP00000319200:V885M	V	+	1	0	ARHGEF18	7439921	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.317000	0.79018	2.352000	0.79861	0.563000	0.77884	GTG		0.687	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		3	10	0	0	0	0.004672	0	3	10					A	7533921	G	A	7533921	3	1	198	1	0	0	0	0	1	0	0	0	901	1145	40	1	3193	1	ARHGEF18	19	7533921	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	1814016	7533921	51595062	90	4214											
ICAM1	3383	broad.mit.edu	37	chr19	10381886	10381886	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccgcactcctggtcctgctCggggctctgttcccaggtga	12	16	1	1	rs530490957		TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr19:10381886C>T	ENST00000264832.3	+	1	376	c.51C>T	c.(49-51)ctC>ctT	p.L17L	ICAM1_ENST00000423829.2_Silent_p.L17L|CTD-2369P2.5_ENST00000592893.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	17				L -> F (in Ref. 11; AAQ14902). {ECO:0000305}.	adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	TGGTCCTGCTCGGGGCTCTGT	0.677																																						ENST00000264832.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(49-51)ctC>ctT		intercellular adhesion molecule 1	Natalizumab(DB00108)|Simvastatin(DB00641)						15	19	18					19																	10381886		2201	4295	6496	SO:0001819	synonymous_variant	3383				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	g.chr19:10381886C>T		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	5344	protein-coding gene	gene with protein product	"human rhinovirus receptor"	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.51C>T	19.37:g.10381886C>T						CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Silent_p.L17L	p.L17L	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		1	376	+			17	L -> F (in Ref. 11; AAQ14902).				B2R6M3|Q5NKV7|Q96B50	Silent	SNP	ENST00000264832.3	37	c.51C>T	CCDS12231.1																																																																																				0.677	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			5	19	0	0	0	0.014758	0	5	19					T	10381886	C	T	10381886	2	4	198	1	0	0	0	0	0	0	0	1	7479	871	31	1		1	ICAM1	19	10381886	Silent	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	2847965	10381886	48747097	91	4215											
ICAM1	3383	broad.mit.edu	37	chr19	10395810	10395810	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gccccccggtatgagattgtCatcatcactgtggtagcagc	11	12	3	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr19:10395810C>T	ENST00000264832.3	+	7	1771	c.1446C>T	c.(1444-1446)gtC>gtT	p.V482V	ICAM1_ENST00000423829.2_Silent_p.V260V|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000380770.3_5'Flank|CTD-2369P2.5_ENST00000592893.1_RNA|ICAM4_ENST00000393717.2_5'Flank|ICAM4_ENST00000340992.4_5'Flank	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	482					adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	ATGAGATTGTCATCATCACTG	0.577																																						ENST00000264832.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1444-1446)gtC>gtT		intercellular adhesion molecule 1	Natalizumab(DB00108)|Simvastatin(DB00641)						96	101	99					19																	10395810		2203	4300	6503	SO:0001819	synonymous_variant	3383				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	g.chr19:10395810C>T		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	5344	protein-coding gene	gene with protein product	"human rhinovirus receptor"	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.1446C>T	19.37:g.10395810C>T						ICAM1_ENST00000423829.2_Silent_p.V260V	p.V482V	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		7	1771	+			482					B2R6M3|Q5NKV7|Q96B50	Silent	SNP	ENST00000264832.3	37	c.1446C>T	CCDS12231.1																																																																																				0.577	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			23	76	0	0	0	0.01892	0	23	76					T	10395810	C	T	10395810	2	4	198	1	0	0	0	0	0	0	0	1	7479	813	29	2		2	ICAM1	19	10395810	Silent	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	13924	10395810	48733173	92	4216											
FARSA	2193	broad.mit.edu	37	chr19	13041137	13041137	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctggagccgccgctgcacctCatcctccatgctgtccacct	8	19	1	0			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr19:13041137C>T	ENST00000314606.4	-	4	421	c.403G>A	c.(403-405)Gag>Aag	p.E135K	FARSA_ENST00000423140.2_Missense_Mutation_p.E135K|CTC-425F1.2_ENST00000592636.1_RNA|FARSA_ENST00000588025.1_Missense_Mutation_p.E175K	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	135					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	CGCTGCACCTCATCCTCCATG	0.652																																						ENST00000588025.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20						c.(523-525)Gag>Aag		phenylalanyl-tRNA synthetase, alpha subunit	L-Phenylalanine(DB00120)						75	66	69					19																	13041137		2203	4300	6503	SO:0001583	missense	2193				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding	g.chr19:13041137C>T	U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	3592	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 1, alpha, cytoplasmic"	602918	"phenylalanine-tRNA synthetase-like", "phenylalanyl-tRNA synthetase-like, alpha subunit"	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.403G>A	19.37:g.13041137C>T	ENSP00000320309:p.Glu135Lys					FARSA_ENST00000314606.4_Missense_Mutation_p.E135K|FARSA_ENST00000423140.2_Missense_Mutation_p.E135K	p.E175K			Q9Y285	SYFA_HUMAN			5	663	-			135					B4E363|Q9NSD8|Q9Y4W8	Missense_Mutation	SNP	ENST00000314606.4	37	c.523G>A	CCDS12287.1	.	.	.	.	.	.	.	.	.	.	C	9.720	1.159426	0.21454	.	.	ENSG00000179115	ENST00000314606;ENST00000423140	T;T	0.64438	-0.1;0.48	5.52	2.04	0.26737	.	0.561755	0.19599	N	0.110422	T	0.39226	0.1070	N	0.25201	0.72	0.18873	N	0.999982	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.12293	-1.0553	10	0.12103	T	0.63	-0.5167	6.2007	0.20575	0.1961:0.6318:0.0:0.1722	.	135;135;135	B4E363;Q6IBR2;Q9Y285	.;.;SYFA_HUMAN	K	135	ENSP00000320309:E135K;ENSP00000396548:E135K	ENSP00000320309:E135K	E	-	1	0	FARSA	12902137	0.016000	0.18221	0.990000	0.47175	0.985000	0.73830	0.461000	0.21940	1.342000	0.45619	0.563000	0.77884	GAG		0.652	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451935.1	NM_004461		25	95	0	0	0	0.024334	0	25	95					T	13041137	C	T	13041137	3	4	198	1	0	0	0	0	1	0	0	0	5679	835	29	2	1163	2	FARSA	19	13041137	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	2645327	13041137	46087846	93	4217											
EMR3	84658	broad.mit.edu	37	chr19	14736376	14736376	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gactcagattttgattttacGatctctctaaaccacttttg	5	9	3	2	rs147270469	byFrequency	TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr19:14736376G>A	ENST00000253673.5	-	15	1948	c.1848C>T	c.(1846-1848)atC>atT	p.I616I	EMR3_ENST00000599900.1_Silent_p.I401I|EMR3_ENST00000344373.4_Silent_p.I564I|EMR3_ENST00000443157.2_Silent_p.I490I	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	616					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						TTGATTTTACGATCTCTCTAA	0.403																																						ENST00000253673.5																			0				NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						c.(1846-1848)atC>atT		egf-like module containing, mucin-like, hormone receptor-like 3							232	206	215					19																	14736376		2203	4300	6503	SO:0001819	synonymous_variant	84658				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14736376G>A	AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"-", "GPCR / Class B : Orphans"	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.1848C>T	19.37:g.14736376G>A						EMR3_ENST00000344373.4_Silent_p.I564I|EMR3_ENST00000599900.1_Silent_p.I401I|EMR3_ENST00000443157.2_Silent_p.I490I	p.I616I	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN			15	1948	-			616						Silent	SNP	ENST00000253673.5	37	c.1848C>T	CCDS12315.1																																																																																				0.403	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		18	172	0	0	0	0.010504	0	18	172					A	14736376	G	A	14736376	2	1	198	1	0	0	0	0	0	0	0	1	5106	1048	37	1		1	EMR3	19	14736376	Silent	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	1695239	14736376	44392607	94	4218											
TMEM50B	757	broad.mit.edu	37	chr21	34837657	34837657	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagtatctttacctgttcttCctaaacagccgctttcatag	5	11	3	0			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr21:34837657C>T	ENST00000542230.2	-	4	486	c.272G>A	c.(271-273)gGa>gAa	p.G91E	AP000301.1_ENST00000581654.1_RNA	NM_006134.6	NP_006125.2	P56557	TM50B_HUMAN	transmembrane protein 50B	91						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|ovary(1)|skin(1)	4						ACCTGTTCTTCCTAAACAGCC	0.388																																						ENST00000542230.2																			0				breast(1)|kidney(1)|ovary(1)|skin(1)	4						c.(271-273)gGa>gAa		transmembrane protein 50B							119	104	109					21																	34837657		2203	4300	6503	SO:0001583	missense	757					endoplasmic reticulum|integral to membrane|plasma membrane		g.chr21:34837657C>T	AF045606	CCDS13625.1	21q22.1	2008-07-29	2005-06-02	2005-06-02	ENSG00000142188	ENSG00000142188			1280	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 4"	C21orf4			Standard	NR_040016		Approved		uc002yrs.2	P56557	OTTHUMG00000065286	ENST00000542230.2:c.272G>A	21.37:g.34837657C>T	ENSP00000439768:p.Gly91Glu						p.G91E	NM_006134.6	NP_006125.2	P56557	TM50B_HUMAN			4	486	-			91					B2R4L4|D3DSF1|O60537|Q5PY47	Missense_Mutation	SNP	ENST00000542230.2	37	c.272G>A	CCDS13625.1	.	.	.	.	.	.	.	.	.	.	C	32	5.111718	0.94339	.	.	ENSG00000142188	ENST00000542230;ENST00000440644	T	0.31769	1.48	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.65554	0.2702	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71839	-0.4471	10	0.52906	T	0.07	-28.8834	18.2871	0.90118	0.0:1.0:0.0:0.0	.	91	P56557	TM50B_HUMAN	E	91	ENSP00000439768:G91E	ENSP00000371390:G91E	G	-	2	0	TMEM50B	33759527	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.138000	0.77305	2.605000	0.88082	0.563000	0.77884	GGA		0.388	TMEM50B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140080.5			5	82	0	0	0	0.014758	0	5	82					T	34837657	C	T	34837657	3	4	198	1	0	0	0	0	1	0	0	0	16173	855	30	2	220	2	TMEM50B	21	34837657	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08		34837657	13292238	95	4219											
CBR3	874	broad.mit.edu	37	chr21	37507778	37507778	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacgcggccgtcgccttcaaGagtaggtgcagggcttgggt	16	10	1	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr21:37507778G>A	ENST00000290354.5	+	1	569	c.288G>A	c.(286-288)aaG>aaA	p.K96K	CBR3-AS1_ENST00000608690.1_RNA|CBR3-AS1_ENST00000608632.1_RNA|CBR3-AS1_ENST00000608622.1_RNA|CBR3-AS1_ENST00000453159.1_RNA|CBR3-AS1_ENST00000413862.1_RNA|CBR3-AS1_ENST00000608641.1_RNA	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN	carbonyl reductase 3	96					cognition (GO:0050890)|phylloquinone catabolic process (GO:0042376)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	3-keto sterol reductase activity (GO:0000253)|carbonyl reductase (NADPH) activity (GO:0004090)|NADPH binding (GO:0070402)			kidney(1)|large_intestine(1)|lung(1)	3					Doxorubicin(DB00997)	TCGCCTTCAAGAGTAGGTGCA	0.672																																						ENST00000290354.5																			0				kidney(1)|large_intestine(1)|lung(1)	3						c.e1+1		carbonyl reductase 3							23	29	27					21																	37507778		2203	4299	6502	SO:0001630	splice_region_variant	874					cytosol|nucleus	carbonyl reductase (NADPH) activity|NADPH binding	g.chr21:37507778G>A	AB004854	CCDS13642.1	21q22.2	2011-09-14			ENSG00000159231	ENSG00000159231	1.1.1.184	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	1549	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 21C, member 2"	603608				9740676, 19027726	Standard	NM_001236		Approved	SDR21C2	uc002yve.3	O75828	OTTHUMG00000086617	ENST00000290354.5:c.289+1G>A	21.37:g.37507778G>A						CBR3-AS1_ENST00000413862.1_RNA|CBR3-AS1_ENST00000453159.1_RNA	p.K96_splice	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN			1	569	+			96					Q6FHP2	Splice_Site	SNP	ENST00000290354.5	37	c.289_splice	CCDS13642.1																																																																																				0.672	CBR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194632.1		Silent	8	28	0	0	0	0.004482	0	8	28					A	37507778	G	A	37507778	5	1	198	1	0	0	0	0	0	0	1	0	2709	956	33	2	290	2	CBR3	21	37507778	Splice_Site	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	2670121	37507778	10622117	96	4220											
FAM116B	414918	broad.mit.edu	37	chr22	50752658	50752658	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggcttggtgtccagggtcttCaaccttgaaggctttttcag	12	9	3	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr22:50752658C>T	ENST00000413817.3	-	13	1187	c.1116G>A	c.(1114-1116)ttG>ttA	p.L372L	XX-C283C717.1_ENST00000453835.1_RNA	NM_001001794.3	NP_001001794.3	Q8NEG7	DEN6B_HUMAN	DENN/MADD domain containing 6B	372					positive regulation of Rab GTPase activity (GO:0032851)	endosome (GO:0005768)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										CCAGGGTCTTCAACCTTGAAG	0.642																																						ENST00000413817.2																			0											c.(1114-1116)ttG>ttA		DENN/MADD domain containing 6B							40	46	44					22																	50752658		1952	4129	6081	SO:0001819	synonymous_variant	414918							g.chr22:50752658C>T	AK054743	CCDS46732.1	22q13.33	2012-10-03	2012-10-03	2012-10-03	ENSG00000205593	ENSG00000205593		"DENN/MADD domain containing"	32690	protein-coding gene	gene with protein product			"family with sequence similarity 116, member B"	FAM116B		21330364	Standard	NM_001001794		Approved	MGC33692, AFI1B	uc011arv.1	Q8NEG7	OTTHUMG00000150210	ENST00000413817.3:c.1116G>A	22.37:g.50752658C>T							p.L372L	NM_001001794.3	NP_001001794.3					13	1187	-								A6X8I5	Silent	SNP	ENST00000413817.3	37	c.1116G>A	CCDS46732.1																																																																																				0.642	DENND6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316845.3	NM_001001794		6	27	0	0	0	0.021553	0	6	27					T	50752658	C	T	50752658	2	4	198	1	0	0	0	0	0	0	0	1	5408	825	29	2		2	FAM116B	22	50752658	Silent	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08		50752658	551908	97	4221											
ARSH	347527	broad.mit.edu	37	chrX	2933405	2933405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaaagtagcttccctcatGctgaaggaggcacttgcttt	11	9	1	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chrX:2933405G>A	ENST00000381130.2	+	4	735	c.735G>A	c.(733-735)atG>atA	p.M245I		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	245					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CTTCCCTCATGCTGAAGGAGG	0.398																																						ENST00000381130.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34						c.(733-735)atG>atA		arylsulfatase family, member H							83	66	72					X																	2933405		2203	4300	6503	SO:0001583	missense	347527					integral to membrane	arylsulfatase activity|metal ion binding	g.chrX:2933405G>A	AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"Arylsulfatase family"	32488	protein-coding gene	gene with protein product		300586	"arylsulfatase H"			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.735G>A	X.37:g.2933405G>A	ENSP00000370522:p.Met245Ile						p.M245I	NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN			4	735	+		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	245						Missense_Mutation	SNP	ENST00000381130.2	37	c.735G>A	CCDS35198.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.414676	0.01145	.	.	ENSG00000205667	ENST00000381130	D	0.98400	-4.91	4.03	1.8	0.24995	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.252892	0.38272	N	0.001758	D	0.90803	0.7112	N	0.04063	-0.285	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.82952	-0.0202	10	0.19590	T	0.45	.	3.4745	0.07579	0.1073:0.3381:0.4101:0.1445	.	245	Q5FYA8	ARSH_HUMAN	I	245	ENSP00000370522:M245I	ENSP00000370522:M245I	M	+	3	0	ARSH	2943405	0.479000	0.25925	0.009000	0.14445	0.251000	0.25915	0.159000	0.16442	0.516000	0.28340	0.556000	0.70494	ATG		0.398	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719		13	67	0	0	0	0.020292	0	13	67					A	2933405	G	A	2933405	3	1	198	1	0	0	0	0	1	0	0	0	993	1319	46	2	749	2	ARSH	23	2933405	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08		2933405	152337155	98	4222											
ENOX2	10495	broad.mit.edu	37	chrX	129799694	129799694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgccttctgcttggaggCggaatggtacacagccacta	11	12	1	0			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chrX:129799694C>T	ENST00000370927.1	-	7	1045	c.1024G>A	c.(1024-1026)Gcc>Acc	p.A342T	ENOX2_ENST00000394363.1_Missense_Mutation_p.A313T|ENOX2_ENST00000338144.3_Missense_Mutation_p.A342T|ENOX2_ENST00000370935.1_Missense_Mutation_p.A313T			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	342					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TGCTTGGAGGCGGAATGGTAC	0.488																																					Ovarian(101;828 1506 2951 9500 35258)	ENST00000338144.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						c.(1024-1026)Gcc>Acc		ecto-NOX disulfide-thiol exchanger 2							83	54	64					X																	129799694		2203	4299	6502	SO:0001583	missense	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129799694C>T	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"RNA binding motif (RRM) containing"	2259	protein-coding gene	gene with protein product		300282	"cytosolic ovarian carcinoma antigen 1"	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.1024G>A	X.37:g.129799694C>T	ENSP00000359965:p.Ala342Thr					ENOX2_ENST00000394363.1_Missense_Mutation_p.A313T|ENOX2_ENST00000370927.1_Missense_Mutation_p.A342T|ENOX2_ENST00000370935.1_Missense_Mutation_p.A313T	p.A342T	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN			10	1441	-			342					A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	c.1024G>A	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463652	0.63513	.	.	ENSG00000165675	ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927;ENST00000432489	T;T	0.29142	1.58;1.58	5.32	5.32	0.75619	.	0.185241	0.46145	D	0.000307	T	0.24275	0.0588	L	0.29908	0.895	0.40529	D	0.980915	P;P	0.51449	0.945;0.945	P;P	0.44561	0.453;0.453	T	0.01935	-1.1244	9	.	.	.	-8.2313	10.2421	0.43319	0.1968:0.8032:0.0:0.0	.	342;370	Q16206;A4QPE1	ENOX2_HUMAN;.	T	313;313;342;313;370;342;313	ENSP00000337146:A342T;ENSP00000359965:A342T	.	A	-	1	0	ENOX2	129627375	0.985000	0.35326	0.958000	0.39756	0.959000	0.62525	2.646000	0.46630	2.467000	0.83353	0.594000	0.82650	GCC		0.488	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		4	16	0	0	0	0.009096	0	4	16					T	129799694	C	T	129799694	3	4	198	1	0	0	0	0	1	0	0	0	5127	768	27	1	836	1	ENOX2	23	129799694	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	126866289	129799694	25470866	99	4223											
PRDM16	63976	broad.mit.edu	37	chr1	3102815	3102815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggccaccgtcccccttccCcaccagcgaggacttcaccc	9	21	1	0			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr1:3102815C>T	ENST00000270722.5	+	2	213	c.164C>T	c.(163-165)cCc>cTc	p.P55L	PRDM16_ENST00000514189.1_Missense_Mutation_p.P55L|PRDM16_ENST00000441472.2_Missense_Mutation_p.P55L|PRDM16_ENST00000442529.2_Missense_Mutation_p.P55L|PRDM16_ENST00000511072.1_Missense_Mutation_p.P55L|PRDM16_ENST00000378398.3_Missense_Mutation_p.P55L|PRDM16_ENST00000378391.2_Missense_Mutation_p.P55L			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	55					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)		TCCCCCTTCCCCACCAGCGAG	0.662			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.(163-165)cCc>cTc		PR domain containing 16							45	59	54					1																	3102815		2123	4192	6315	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.chr1:3102815C>T	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.164C>T	1.37:g.3102815C>T	ENSP00000270722:p.Pro55Leu					PRDM16_ENST00000378391.2_Missense_Mutation_p.P55L|PRDM16_ENST00000442529.2_Missense_Mutation_p.P55L|PRDM16_ENST00000441472.2_Missense_Mutation_p.P55L|PRDM16_ENST00000514189.1_Missense_Mutation_p.P55L|PRDM16_ENST00000511072.1_Missense_Mutation_p.P55L|PRDM16_ENST00000270722.5_Missense_Mutation_p.P55L	p.P55L			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)	2	246	+	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)	55					A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	c.164C>T	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939386	0.52972	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.1	5.1	0.69264	.	0.000000	0.44688	U	0.000428	T	0.58090	0.2098	L	0.47716	1.5	0.58432	D	0.999996	B;B;D;B	0.76494	0.06;0.099;0.999;0.06	B;B;D;B	0.65323	0.018;0.041;0.934;0.018	T	0.61584	-0.7033	10	0.87932	D	0	.	18.5117	0.90918	0.0:1.0:0.0:0.0	.	55;55;55;55	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	L	55	ENSP00000426975:P55L;ENSP00000367651:P55L;ENSP00000407968:P55L;ENSP00000405253:P55L;ENSP00000367643:P55L;ENSP00000421400:P55L;ENSP00000270722:P55L	ENSP00000270722:P55L	P	+	2	0	PRDM16	3092675	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.803000	0.55560	2.368000	0.80403	0.561000	0.74099	CCC		0.662	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		24	63	0	0	0	1	0	24	63					T	3102815	C	T	3102815	3	4	199	1	0	0	0	0	1	0	0	0	12457	623	22	2	170	2	PRDM16	1	3102815	Missense_Mutation	SNP	C	TCGA-EL-A3CU-01A-11D-A19J-08		3102815	246147806	1	4224											
FLG2	388698	broad.mit.edu	37	chr1	152325310	152325310	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cactggactcactgtggctaGatctctgtcttccagttgtc	9	12	3	1	rs188198910		TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr1:152325310G>T	ENST00000388718.5	-	3	5024	c.4952C>A	c.(4951-4953)tCt>tAt	p.S1651Y	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1651					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)	p.S1651Y(1)		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)			ACTGTGGCTAGATCTCTGTCT	0.512													G|||	1	0.000199681	0	0	5008	,	,		26792	0		0.001	False		,,,				2504	0					ENST00000388718.5																			1	Substitution - Missense(1)	p.S1651Y(1)	large_intestine(1)	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.(4951-4953)tCt>tAt		filaggrin family member 2		G	TYR/SER	1,4405	2.1+/-5.4	0,1,2202	429	382	398		4952	1.4	0.0	1		398	0,8600		0,0,4300	no	missense	FLG2	NM_001014342.2	144	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	benign	1651/2392	152325310	1,13005	2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152325310G>T	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.4952C>A	1.37:g.152325310G>T	ENSP00000373370:p.Ser1651Tyr					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.S1651Y	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5024	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1651					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.4952C>A	CCDS30861.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	9.901	1.206774	0.22205	2.27E-4	0.0	ENSG00000143520	ENST00000388718	T	0.35421	1.31	4.56	1.43	0.22495	.	.	.	.	.	T	0.21509	0.0518	L	0.48986	1.54	0.09310	N	1	D	0.59357	0.985	P	0.50970	0.655	T	0.05632	-1.0873	9	0.62326	D	0.03	0.1094	5.648	0.17600	0.0952:0.0:0.5627:0.3421	.	1651	Q5D862	FILA2_HUMAN	Y	1651	ENSP00000373370:S1651Y	ENSP00000373370:S1651Y	S	-	2	0	FLG2	150591934	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.484000	0.22308	0.098000	0.17522	0.549000	0.68633	TCT		0.512	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		111	298	1	0	3.29639e-60	1	3.89573e-60	111	298					T	152325310	G	T	152325310	3	4	199	1	0	0	0	0	1	0	0	0	5923	942	33	4	2227	4	FLG2	1	152325310	Missense_Mutation	SNP	G	TCGA-EL-A3CU-01A-11D-A19J-08	149222495	152325310	96925311	2	4225											
RGS18	64407	broad.mit.edu	37	chr1	192150498	192150498	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaattttggatagcctgtgaAgatttcaagaaaagcaaggg	12	4	1	3			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr1:192150498A>G	ENST00000367460.3	+	4	541	c.360A>G	c.(358-360)gaA>gaG	p.E120E		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	120	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TAGCCTGTGAAGATTTCAAGA	0.313																																						ENST00000367460.3																			0				kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(358-360)gaA>gaG		regulator of G-protein signaling 18							45	49	47					1																	192150498		2196	4285	6481	SO:0001819	synonymous_variant	64407				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192150498A>G	AF268036	CCDS1374.1	1q31.2	2008-02-05	2007-08-14		ENSG00000150681	ENSG00000150681		"Regulators of G-protein signaling"	14261	protein-coding gene	gene with protein product		607192	"regulator of G-protein signalling 18"			11042171	Standard	NM_130782		Approved	RGS13	uc001gsg.3	Q9NS28	OTTHUMG00000035592	ENST00000367460.3:c.360A>G	1.37:g.192150498A>G							p.E120E	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN			4	541	+			120			RGS.		B2RD23	Silent	SNP	ENST00000367460.3	37	c.360A>G	CCDS1374.1																																																																																				0.313	RGS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086382.1	NM_130782		3	35	0	0	0	1	0	3	35					G	192150498	A	G	192150498	2	3	199	1	0	0	0	0	0	0	0	1	13300	69	3	3		3	RGS18	1	192150498	Silent	SNP	A	TCGA-EL-A3CU-01A-11D-A19J-08	39825188	192150498	57100123	3	4226											
TTN	7273	broad.mit.edu	37	chr2	179436988	179436988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttgtgacatccatcaaaGttatttttcctggaggaaga	8	7	2	2			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr2:179436988G>A	ENST00000591111.1	-	276	69172	c.68948C>T	c.(68947-68949)aCt>aTt	p.T22983I	TTN_ENST00000589042.1_Missense_Mutation_p.T24624I|TTN_ENST00000342992.6_Missense_Mutation_p.T22056I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T15684I|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T15559I|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T15751I			Q8WZ42	TITIN_HUMAN	titin	22983	Fibronectin type-III 67. {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)			ATCCATCAAAGTTATTTTTCC	0.468																																						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.(73870-73872)aCt>aTt		titin							84	78	80					2																	179436988		1957	4158	6115	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179436988G>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.68948C>T	2.37:g.179436988G>A	ENSP00000465570:p.Thr22983Ile					TTN_ENST00000342992.6_Missense_Mutation_p.T22056I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T15559I|TTN_ENST00000359218.5_Missense_Mutation_p.T15684I|TTN_ENST00000342175.6_Missense_Mutation_p.T15751I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T22983I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.T24624I	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	74095	-			22983			Ig-like 122.		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.73871C>T		.	.	.	.	.	.	.	.	.	.	G	14.49	2.551253	0.45383	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	5.98	5.98	0.97165	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74665	0.3746	L	0.58101	1.795	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.998	D;D;D;D	0.70227	0.968;0.968;0.968;0.959	T	0.74771	-0.3552	9	0.87932	D	0	.	20.4292	0.99080	0.0:0.0:1.0:0.0	.	15559;15684;15751;22983	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	22056;15559;15751;15684;15557	ENSP00000343764:T22056I;ENSP00000434586:T15559I;ENSP00000340554:T15751I;ENSP00000352154:T15684I	ENSP00000340554:T15751I	T	-	2	0	TTN	179145234	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.839000	0.97877	0.650000	0.86243	ACT		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	30	0	0	0	1	0	9	30					A	179436988	G	A	179436988	3	1	199	1	0	0	0	0	1	0	0	0	16732	1029	36	2	34256	2	TTN	2	179436988	Missense_Mutation	SNP	G	TCGA-EL-A3CU-01A-11D-A19J-08		179436988	63762385	4	4227											
UGT1A4	54657	broad.mit.edu	37	chr2	234627585	234627585	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcccactgatggcagccCctggctcagcatgcgggagg	16	13	1	1	rs149017068		TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr2:234627585C>A	ENST00000373409.3	+	1	162	c.119C>A	c.(118-120)cCc>cAc	p.P40H	UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A5_ENST00000373414.3_Intron	NM_007120.2	NP_009051.1	P22310	UD14_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A4	40					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	Asenapine(DB06216)|Clozapine(DB00363)|Ezogabine(DB04953)|Lamotrigine(DB00555)|Midazolam(DB00683)|Paricalcitol(DB00910)|Tamoxifen(DB00675)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)	GATGGCAGCCCCTGGCTCAGC	0.632													A|||	1	0.000199681	0	0	5008	,	,		19011	0		0.001	False		,,,				2504	0				Melanoma(99;1011 1962 13201 26492)	ENST00000373409.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(118-120)cCc>cAc									52	51	51					2																	234627585		2203	4300	6503	SO:0001583	missense	0							g.chr2:234627585C>A	M84128	CCDS33405.1	2q37.1	2014-01-10	2005-07-20		ENSG00000244474	ENSG00000244474		"UDP glucuronosyltransferases"	12536	other	complex locus constituent		606429	"UDP glycosyltransferase 1 family, polypeptide A4"			9295054, 1339448	Standard	NM_007120		Approved	HUG-BR2, UGT1D	uc002vux.3	P22310	OTTHUMG00000059119	ENST00000373409.3:c.119C>A	2.37:g.234627585C>A	ENSP00000362508:p.Pro40His					UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A8_ENST00000373450.4_Intron	p.P40H	NM_007120.2	NP_009051.1				Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	1	162	+		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)						B2R937|B8K288|Q5DT00	Missense_Mutation	SNP	ENST00000373409.3	37	c.119C>A	CCDS33405.1	.	.	.	.	.	.	.	.	.	.	c	0.005	-2.128976	0.00342	.	.	ENSG00000244474	ENST00000373409	T	0.38077	1.16	4.16	1.71	0.24356	.	.	.	.	.	T	0.03871	0.0109	N	0.00004	-3.39	0.24021	N	0.996141	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.38887	-0.9640	9	0.02654	T	1	.	8.0864	0.30775	0.6461:0.2809:0.073:0.0	.	40;40	B8K288;P22310	.;UD14_HUMAN	H	40	ENSP00000362508:P40H	ENSP00000362508:P40H	P	+	2	0	UGT1A4	234292324	0.980000	0.34600	0.997000	0.53966	0.062000	0.15995	2.523000	0.45580	-0.230000	0.09840	-2.134000	0.00341	CCC		0.632	UGT1A4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130984.1	NM_007120		4	45	1	0	0.184627	1	0.184627	4	45					A	234627585	C	A	234627585	3	1	199	1	0	0	0	0	1	0	0	0	16944	623	22	4	121	4	UGT1A4	2	234627585	Missense_Mutation	SNP	C	TCGA-EL-A3CU-01A-11D-A19J-08	55190597	234627585	8571788	5	4228											
BSN	8927	broad.mit.edu	37	chr3	49691425	49691426	+	Frame_Shift_Del	DEL	CT	CT	-													ctttgcaagctccagcccacCtctctccccgtcttccccct							TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr3:49691425_49691426delCT	ENST00000296452.4	+	5	4550_4551	c.4436_4437delCT	c.(4435-4437)cctfs	p.P1479fs		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1479					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCCAGCCCACCTCTCTCCCCGT	0.609																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(4435-4437)cfs		bassoon presynaptic cytomatrix protein																																				SO:0001589	frameshift_variant	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49691425_49691426delCT	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.4436_4437delCT	3.37:g.49691429_49691430delCT	ENSP00000296452:p.Pro1479fs						p.P1479fs	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	4550_4551	+			1479					O43161|Q7LGH3	Frame_Shift_Del	DEL	ENST00000296452.4	37	c.4436_4437delCT	CCDS2800.1																																																																																				0.609	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		29	92						29	92	---	---	---	---	-	49691426	CT	-	49691425	7	5	199	1	0	1	0	1	0	0	0	0	1530	681	24	0	4454	0	BSN	3	49691425	Frame_Shift_Del	DEL	CT	TCGA-EL-A3CU-01A-11D-A19J-08		49691425	148331005	6	4229											
MYH15	22989	broad.mit.edu	37	chr3	108102490	108102490	+	Frame_Shift_Del	DEL	T	T	-													ttgagtttattgacttgagaTtctgccacctctgccctttc							TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr3:108102490delT	ENST00000273353.3	-	41	5834	c.5778delA	c.(5776-5778)gaafs	p.E1926fs		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1926						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TGACTTGAGATTCTGCCACCT	0.348																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(5776-5778)gafs		myosin, heavy chain 15							214	201	205					3																	108102490		1855	4092	5947	SO:0001589	frameshift_variant	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108102490delT	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.5778delA	3.37:g.108102490delT	ENSP00000273353:p.Glu1926fs						p.E1926fs	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			41	5834	-			1926						Frame_Shift_Del	DEL	ENST00000273353.3	37	c.5778delA	CCDS43127.1																																																																																				0.348	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		20	84						20	84	---	---	---	---	-	108102490	T	-	108102490	7	5	199	1	0	1	0	1	0	0	0	0	10034	1490	52	0	70	0	MYH15	3	108102490	Frame_Shift_Del	DEL	T	TCGA-EL-A3CU-01A-11D-A19J-08	58411065	108102490	89919940	7	4230											
DGKQ	1609	broad.mit.edu	37	chr4	959854	959854	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaccgcgtctggctcacctGccgcacagacatctgcaggg	12	15	3	1			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr4:959854G>A	ENST00000273814.3	-	13	1514	c.1441C>T	c.(1441-1443)Cag>Tag	p.Q481*	DGKQ_ENST00000502309.1_5'UTR	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	481	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGGCTCACCTGCCGCACAGAC	0.662																																					Esophageal Squamous(17;537 645 4447 26373)	ENST00000273814.3																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9						c.(1441-1443)Cag>Tag		diacylglycerol kinase, theta 110kDa							28	23	24					4																	959854		2190	4289	6479	SO:0001587	stop_gained	1609				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	g.chr4:959854G>A	L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"diacylglycerol kinase, theta (110kD)"	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.1441C>T	4.37:g.959854G>A	ENSP00000273814:p.Gln481*					DGKQ_ENST00000502309.1_5'UTR	p.Q481*	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		13	1514	-			481			Ras-associating.		Q6P3W4	Nonsense_Mutation	SNP	ENST00000273814.3	37	c.1441C>T	CCDS3342.1	.	.	.	.	.	.	.	.	.	.	G	36	5.746645	0.96882	.	.	ENSG00000145214	ENST00000273814	.	.	.	4.23	4.23	0.50019	.	0.113517	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	14.1698	0.65503	0.0:0.0:1.0:0.0	.	.	.	.	X	481	.	ENSP00000273814:Q481X	Q	-	1	0	DGKQ	949854	0.995000	0.38212	0.787000	0.31911	0.253000	0.25986	4.769000	0.62300	2.191000	0.70037	0.651000	0.88453	CAG		0.662	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1			5	4	0	0	0	1	0	5	4					A	959854	G	A	959854	4	1	199	1	0	0	0	0	0	1	0	0	4473	1328	46	2	1431	2	DGKQ	4	959854	Nonsense_Mutation	SNP	G	TCGA-EL-A3CU-01A-11D-A19J-08		959854	190194422	8	4231											
UGT2A1	10941	broad.mit.edu	37	chr4	70464983	70464983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttaggtaaaggtttggcaGgtttgcagtgcaatcctcca	11	9	0	0			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr4:70464983G>A	ENST00000503640.1	-	2	900	c.845C>T	c.(844-846)cCt>cTt	p.P282L	UGT2A1_ENST00000512704.1_Missense_Mutation_p.P282L|UGT2A1_ENST00000286604.4_Missense_Mutation_p.P326L|UGT2A1_ENST00000514019.1_Missense_Mutation_p.P492L|UGT2A2_ENST00000457664.2_Missense_Mutation_p.P291L|UGT2A1_ENST00000502343.1_5'UTR	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	282					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AGGTTTGGCAGGTTTGCAGTG	0.348																																						ENST00000503640.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(844-846)cCt>cTt		UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus							63	60	61					4																	70464983		2203	4300	6503	SO:0001583	missense	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	g.chr4:70464983G>A	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"UDP glucuronosyltransferases"	12542	protein-coding gene	gene with protein product		604716	"UDP glycosyltransferase 2 family, polypeptide A1", "UDP glucuronosyltransferase 2 family, polypeptide A1"			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.845C>T	4.37:g.70464983G>A	ENSP00000424478:p.Pro282Leu					UGT2A1_ENST00000502343.1_5'UTR|UGT2A2_ENST00000457664.2_Missense_Mutation_p.P291L|UGT2A1_ENST00000514019.1_Missense_Mutation_p.P492L|UGT2A1_ENST00000286604.4_Missense_Mutation_p.P326L|UGT2A1_ENST00000512704.1_Missense_Mutation_p.P282L	p.P282L	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN			2	900	-			282					B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	c.845C>T	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179821	0.78564	.	.	ENSG00000173610	ENST00000457664;ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604	T;T;T;T;T	0.62639	0.12;0.12;0.09;0.09;0.01	4.64	4.64	0.57946	.	0.058586	0.64402	D	0.000001	T	0.81202	0.4773	M	0.87547	2.89	.	.	.	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.989;1.0;0.999;0.999	D	0.85142	0.0981	9	0.56958	D	0.05	.	15.3983	0.74816	0.0:0.0:1.0:0.0	.	492;492;282;291;282	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1-2;Q9Y4X1	.;.;.;.;UD2A1_HUMAN	L	291;282;282;492;326	ENSP00000387888:P291L;ENSP00000424478:P282L;ENSP00000421432:P282L;ENSP00000425497:P492L;ENSP00000286604:P326L	ENSP00000286604:P326L	P	-	2	0	UGT2A1	70499572	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	6.215000	0.72206	2.558000	0.86282	0.563000	0.77884	CCT		0.348	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		5	39	0	0	0	1	0	5	39					A	70464983	G	A	70464983	3	1	199	1	0	0	0	0	1	0	0	0	16950	1000	35	2	758	2	UGT2A1	4	70464983	Missense_Mutation	SNP	G	TCGA-EL-A3CU-01A-11D-A19J-08	69505129	70464983	120689293	9	4232											
CHCHD2	51142	broad.mit.edu	37	chr7	56172116	56172116	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agatgggggtgccgctgctgGtggctgagcgactggtgctg	20	8	0	2			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr7:56172116G>T	ENST00000395422.3	-	2	265	c.103C>A	c.(103-105)Cca>Aca	p.P35T		NM_016139.2	NP_057223.1	Q9Y6H1	CHCH2_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 2	35						mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCCGCTGCTGGTGGCTGAGCG	0.597																																						ENST00000395422.3																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(103-105)Cca>Aca		coiled-coil-helix-coiled-coil-helix domain containing 2							11	14	13					7																	56172116		2185	4290	6475	SO:0001583	missense	51142					mitochondrion		g.chr7:56172116G>T	AF078845	CCDS5526.1	7p11.2	2014-07-14	2004-01-19	2004-01-21	ENSG00000106153	ENSG00000106153		"Coiled-coil-helix-coiled-coil-helix domain containing"	21645	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 17"	C7orf17		23303788	Standard	NM_016139		Approved		uc003tsa.3	Q9Y6H1	OTTHUMG00000129429	ENST00000395422.3:c.103C>A	7.37:g.56172116G>T	ENSP00000378812:p.Pro35Thr						p.P35T	NM_016139.2	NP_057223.1	Q9Y6H1	CHCH2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		2	265	-	Breast(14;0.214)		35					Q498C3|Q6NZ50	Missense_Mutation	SNP	ENST00000395422.3	37	c.103C>A	CCDS5526.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662628	0.67700	.	.	ENSG00000106153	ENST00000395422	T	0.51325	0.71	5.09	5.09	0.68999	.	0.252596	0.39544	N	0.001332	T	0.69242	0.3089	M	0.83953	2.67	0.80722	D	1	D	0.76494	0.999	D	0.63488	0.915	T	0.69760	-0.5058	10	0.37606	T	0.19	.	17.6527	0.88169	0.0:0.0:1.0:0.0	.	35	Q9Y6H1	CHCH2_HUMAN	T	35	ENSP00000378812:P35T	ENSP00000378812:P35T	P	-	1	0	CHCHD2	56139610	1.000000	0.71417	0.539000	0.28077	0.994000	0.84299	9.357000	0.97099	2.655000	0.90218	0.655000	0.94253	CCA		0.597	CHCHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251589.1	NM_016139		4	10	1	0	0.150653	1	0.154618	4	10					T	56172116	G	T	56172116	3	4	199	1	0	0	0	0	1	0	0	0	3316	1261	44	4	364	4	CHCHD2	7	56172116	Missense_Mutation	SNP	G	TCGA-EL-A3CU-01A-11D-A19J-08		56172116	102966547	10	4233											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		22	47	0	0	0	1	0	22	47					T	140453136	A	T	140453136	3	4	199	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3CU-01A-11D-A19J-08	84281020	140453136	18685527	11	4234											
FGF20	26281	broad.mit.edu	37	chr8	16850687	16850687	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctcttggacctggcgccaTctcttggagttccgtctttg	11	13	3	0			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr8:16850687T>C	ENST00000180166.5	-	3	678	c.530A>G	c.(529-531)gAt>gGt	p.D177G		NM_019851.2	NP_062825.1	Q9NP95	FGF20_HUMAN	fibroblast growth factor 20	177					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of cardiac muscle cell proliferation (GO:0060043)|signal transduction (GO:0007165)	extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CCTGGCGCCATCTCTTGGAGT	0.428																																						ENST00000180166.5																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11						c.(529-531)gAt>gGt		fibroblast growth factor 20							186	165	172					8																	16850687		2203	4300	6503	SO:0001583	missense	26281				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular region|soluble fraction	growth factor activity	g.chr8:16850687T>C	AB030648	CCDS5998.1	8p22	2008-05-15			ENSG00000078579	ENSG00000078579			3677	protein-coding gene	gene with protein product		605558				10913340	Standard	NM_019851		Approved		uc003wxc.1	Q9NP95	OTTHUMG00000096964	ENST00000180166.5:c.530A>G	8.37:g.16850687T>C	ENSP00000180166:p.Asp177Gly						p.D177G	NM_019851.2	NP_062825.1	Q9NP95	FGF20_HUMAN		Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	3	678	-			177					B2RPH5	Missense_Mutation	SNP	ENST00000180166.5	37	c.530A>G	CCDS5998.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.943121	0.73672	.	.	ENSG00000078579	ENST00000180166	T	0.66995	-0.24	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.72078	0.3416	L	0.54323	1.7	0.80722	D	1	B	0.26708	0.157	B	0.41646	0.362	T	0.71724	-0.4506	10	0.62326	D	0.03	.	16.5479	0.84454	0.0:0.0:0.0:1.0	.	177	Q9NP95	FGF20_HUMAN	G	177	ENSP00000180166:D177G	ENSP00000180166:D177G	D	-	2	0	FGF20	16895058	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	GAT		0.428	FGF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214030.1			39	91	0	0	0	1	0	39	91					C	16850687	T	C	16850687	3	2	199	1	0	0	0	0	1	0	0	0	5849	1435	50	3	109	3	FGF20	8	16850687	Missense_Mutation	SNP	T	TCGA-EL-A3CU-01A-11D-A19J-08		16850687	129513335	12	4235											
ZC3H3	23144	broad.mit.edu	37	chr8	144548018	144548018	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaagtaggagcacaccggcaTctgcagggagggccggcagt	17	10	1	0			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr8:144548018T>A	ENST00000262577.5	-	9	2207	c.2176A>T	c.(2176-2178)Atg>Ttg	p.M726L		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	726					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CACACCGGCATCTGCAGGGAG	0.652																																						ENST00000262577.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.e9-1		zinc finger CCCH-type containing 3							45	37	40					8																	144548018		2203	4300	6503	SO:0001630	splice_region_variant	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144548018T>A	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"Zinc fingers, CCCH-type domain containing"	28972	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 3"	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.2176-1A>T	8.37:g.144548018T>A							p.M726_splice	NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		9	2207	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		726					Q14163|Q8N4E2|Q9BUS4	Splice_Site	SNP	ENST00000262577.5	37	c.2175_splice	CCDS6402.1	.	.	.	.	.	.	.	.	.	.	T	18.47	3.631133	0.67015	.	.	ENSG00000014164	ENST00000262577	T	0.43294	0.95	4.84	4.84	0.62591	Zinc finger, CCCH-type (2);	0.000000	0.85682	D	0.000000	T	0.62441	0.2428	M	0.82056	2.57	0.58432	D	0.999998	P	0.44986	0.847	P	0.56916	0.809	T	0.68119	-0.5493	10	0.72032	D	0.01	-22.982	14.4022	0.67056	0.0:0.0:0.0:1.0	.	726	Q8IXZ2	ZC3H3_HUMAN	L	726	ENSP00000262577:M726L	ENSP00000262577:M726L	M	-	1	0	ZC3H3	144619161	1.000000	0.71417	1.000000	0.80357	0.368000	0.29767	7.599000	0.82757	1.818000	0.53035	0.459000	0.35465	ATG		0.652	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117	Missense_Mutation	3	17	0	0	0	1	0	3	17					A	144548018	T	A	144548018	5	1	199	1	0	0	0	0	0	0	1	0	17566	1449	50	5	686	5	ZC3H3	8	144548018	Splice_Site	SNP	T	TCGA-EL-A3CU-01A-11D-A19J-08	127697331	144548018	1816004	13	4236											
PPRC1	23082	broad.mit.edu	37	chr10	103908243	103908243	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcgaagccgctcacgatcCccatccccccgccggagaag	9	19	2	1			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr10:103908243C>T	ENST00000278070.2	+	10	4554	c.4515C>T	c.(4513-4515)tcC>tcT	p.S1505S	PPRC1_ENST00000370012.1_Silent_p.S472S|PPRC1_ENST00000413464.2_Silent_p.S1241S|PPRC1_ENST00000489648.1_3'UTR	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1505	Arg-rich.|Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GCTCACGATCCCCATCCCCCC	0.562																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(4513-4515)tcC>tcT		peroxisome proliferator-activated receptor gamma, coactivator-related 1							120	103	109					10																	103908243		2203	4300	6503	SO:0001819	synonymous_variant	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103908243C>T	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4515C>T	10.37:g.103908243C>T						PPRC1_ENST00000370012.1_Silent_p.S472S|PPRC1_ENST00000413464.2_Silent_p.S1241S|PPRC1_ENST00000489648.1_3'UTR	p.S1505S	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	10	4554	+		Colorectal(252;0.122)	1505			Arg-rich.|Ser-rich.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Silent	SNP	ENST00000278070.2	37	c.4515C>T	CCDS7529.1																																																																																				0.562	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		11	90	0	0	0	1	0	11	90					T	103908243	C	T	103908243	2	4	199	1	0	0	0	0	0	0	0	1	12410	610	22	2		2	PPRC1	10	103908243	Silent	SNP	C	TCGA-EL-A3CU-01A-11D-A19J-08		103908243	31626504	14	4237											
C10orf137	26098	broad.mit.edu	37	chr10	127408456	127408456	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agggctcagcctcctgtcccAgggagaatccgaggaatctt	12	12	2	1			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr10:127408456A>T	ENST00000356792.4	+	1	312	c.80A>T	c.(79-81)cAg>cTg	p.Q27L	RP11-383C5.5_ENST00000430970.1_RNA|C10orf137_ENST00000337623.3_Missense_Mutation_p.Q27L|RP11-383C5.4_ENST00000423178.2_lincRNA	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		27					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CTCCTGTCCCAGGGAGAATCC	0.711																																						ENST00000337623.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61						c.(79-81)cAg>cTg		chromosome 10 open reading frame 137							20	24	22					10																	127408456		2201	4293	6494	SO:0001583	missense	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127408456A>T																												ENST00000356792.4:c.80A>T	10.37:g.127408456A>T	ENSP00000349244:p.Gln27Leu					C10orf137_ENST00000356792.4_Missense_Mutation_p.Q27L	p.Q27L	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN			1	185	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	27					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	c.80A>T	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	A	16.60	3.168246	0.57476	.	.	ENSG00000107938	ENST00000356792;ENST00000392732;ENST00000337623	T;T	0.39229	1.09;1.09	4.42	2.06	0.26882	.	0.389621	0.21139	N	0.079509	T	0.19127	0.0459	N	0.08118	0	0.21782	N	0.999546	B;B;B	0.18310	0.027;0.027;0.001	B;B;B	0.18871	0.023;0.023;0.009	T	0.10917	-1.0609	10	0.49607	T	0.09	.	4.0048	0.09597	0.6737:0.2163:0.11:0.0	.	27;27;27	Q3B7T1;Q3B7T1-5;Q3B7T1-3	EDRF1_HUMAN;.;.	L	27	ENSP00000349244:Q27L;ENSP00000336727:Q27L	ENSP00000336727:Q27L	Q	+	2	0	C10orf137	127398446	0.063000	0.20901	0.969000	0.41365	0.936000	0.57629	0.515000	0.22801	0.800000	0.34041	0.533000	0.62120	CAG		0.711	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			12	20	0	0	0	1	0	12	20					T	127408456	A	T	127408456	3	4	199	1	0	0	0	0	1	0	0	0	1594	188	7	5	82	5	C10orf137	10	127408456	Missense_Mutation	SNP	A	TCGA-EL-A3CU-01A-11D-A19J-08	23500213	127408456	8126291	15	4238											
DDX47	51202	broad.mit.edu	37	chr12	12977586	12977586	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatgtagatgtggttgtcaActttgacattcctacccatt	7	9	2	2	rs142329297		TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr12:12977586A>G	ENST00000358007.3	+	9	1032	c.1010A>G	c.(1009-1011)aAc>aGc	p.N337S	DDX47_ENST00000352940.4_Missense_Mutation_p.N288S	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	337	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		GTGGTTGTCAACTTTGACATT	0.433													A|||	1	0.000199681	8e-04	0	5008	,	,		18539	0		0	False		,,,				2504	0					ENST00000358007.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1009-1011)aAc>aGc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 47		A	SER/ASN,SER/ASN	6,4400	12.9+/-30.5	0,6,2197	194	163	174		1010,863	4.6	1.0	12	dbSNP_134	174	0,8600		0,0,4300	yes	missense,missense	DDX47	NM_016355.3,NM_201224.1	46,46	0,6,6497	GG,GA,AA		0.0,0.1362,0.0461	probably-damaging,probably-damaging	337/456,288/407	12977586	6,13000	2203	4300	6503	SO:0001583	missense	51202					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr12:12977586A>G	AK127712	CCDS8655.1, CCDS8656.1	12p13.2	2010-07-06			ENSG00000213782	ENSG00000213782		"DEAD-boxes"	18682	protein-coding gene	gene with protein product		615428					Standard	NM_016355		Approved	DKFZp564O176, FLJ30012, HQ0256, RRP3	uc001rax.3	Q9H0S4	OTTHUMG00000168709	ENST00000358007.3:c.1010A>G	12.37:g.12977586A>G	ENSP00000350698:p.Asn337Ser					RP11-59H1.3_ENST00000534843.1_3'UTR|DDX47_ENST00000352940.4_Missense_Mutation_p.N288S	p.N337S	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0354)	9	1032	+		Prostate(47;0.0526)	337			Helicase C-terminal.		B3KXP4|G5E955|Q96GM0|Q96NV8|Q9UI98	Missense_Mutation	SNP	ENST00000358007.3	37	c.1010A>G	CCDS8655.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.552288	0.86127	0.001362	0.0	ENSG00000213782	ENST00000352940;ENST00000358007	T;T	0.78003	-1.14;3.41	5.77	4.61	0.57282	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.88865	0.6553	M	0.87758	2.905	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.90211	0.4264	10	0.87932	D	0	-19.2753	13.2886	0.60258	0.8676:0.1324:0.0:0.0	.	337;288;337	Q9H4E3;G5E955;Q9H0S4	.;.;DDX47_HUMAN	S	288;337	ENSP00000319578:N288S;ENSP00000350698:N337S	ENSP00000319578:N288S	N	+	2	0	DDX47	12868853	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.938000	0.92943	1.093000	0.41377	0.533000	0.62120	AAC		0.433	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400674.1	NM_016355		4	85	0	0	0	1	0	4	85					G	12977586	A	G	12977586	3	3	199	1	0	0	0	0	1	0	0	0	4365	43	2	3	1044	3	DDX47	12	12977586	Missense_Mutation	SNP	A	TCGA-EL-A3CU-01A-11D-A19J-08		12977586	120874309	16	4239											
ALG10B	144245	broad.mit.edu	37	chr12	38714267	38714267	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cagacttccacctattaaagGaccatttgcagaattcagaa	6	10	1	3			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr12:38714267G>T	ENST00000308742.4	+	3	990	c.674G>T	c.(673-675)gGa>gTa	p.G225V	ALG10B_ENST00000551464.1_Intron|AC117372.1_ENST00000401168.2_RNA	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	225					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)	p.G225V(1)		breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				CCTATTAAAGGACCATTTGCA	0.393																																						ENST00000308742.4																			1	Substitution - Missense(1)	p.G225V(1)	lung(1)	breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25						c.(673-675)gGa>gTa		ALG10B, alpha-1,2-glucosyltransferase							85	91	89					12																	38714267		2200	4294	6494	SO:0001583	missense	144245				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:38714267G>T	AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"potassium channel regulator 1", "dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"		"asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.674G>T	12.37:g.38714267G>T	ENSP00000310120:p.Gly225Val					ALG10B_ENST00000551464.1_Intron	p.G225V	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN			3	990	+	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)	225					B2RPF4	Missense_Mutation	SNP	ENST00000308742.4	37	c.674G>T	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	N	2.494	-0.316750	0.05386	.	.	ENSG00000175548	ENST00000308742	T	0.30182	1.54	3.09	3.09	0.35607	.	0.242267	0.41294	D	0.000913	T	0.31482	0.0798	M	0.76328	2.33	0.80722	D	1	P	0.39352	0.669	B	0.38106	0.265	T	0.13656	-1.0501	10	0.15952	T	0.53	.	12.4259	0.55546	0.0:0.0:1.0:0.0	.	225	Q5I7T1	AG10B_HUMAN	V	225	ENSP00000310120:G225V	ENSP00000310120:G225V	G	+	2	0	ALG10B	37000534	1.000000	0.71417	0.268000	0.24571	0.099000	0.18886	2.754000	0.47532	2.033000	0.60031	0.549000	0.68633	GGA		0.393	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		8	138	1	0	1.12685e-05	1	1.22075e-05	8	138					T	38714267	G	T	38714267	3	4	199	1	0	0	0	0	1	0	0	0	512	1174	41	4	684	4	ALG10B	12	38714267	Missense_Mutation	SNP	G	TCGA-EL-A3CU-01A-11D-A19J-08	25736681	38714267	95137628	17	4240											
HAS3	3038	broad.mit.edu	37	chr16	69143315	69143315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagatgccggtgcagctgaCgacagccctgcgtgtggtgg	16	12	0	2	rs140561541	byFrequency	TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr16:69143315C>T	ENST00000306560.1	+	2	173	c.17C>T	c.(16-18)aCg>aTg	p.T6M	HAS3_ENST00000569188.1_Missense_Mutation_p.T6M|HAS3_ENST00000219322.3_Missense_Mutation_p.T6M	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	6					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		GTGCAGCTGACGACAGCCCTG	0.607													C|||	9	0.00179712	0	0.0043	5008	,	,		18465	0		0.004	False		,,,				2504	0.002					ENST00000306560.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16						c.(16-18)aCg>aTg		hyaluronan synthase 3		C	MET/THR,MET/THR,MET/THR	8,4388	14.3+/-33.2	0,8,2190	65	52	56		17,17,17	4.5	1.0	16	dbSNP_134	56	39,8561	26.8+/-75.7	0,39,4261	yes	missense,missense,missense	HAS3	NM_001199280.1,NM_005329.2,NM_138612.2	81,81,81	0,47,6451	TT,TC,CC		0.4535,0.182,0.3616	benign,benign,benign	6/554,6/554,6/282	69143315	47,12949	2198	4300	6498	SO:0001583	missense	3038				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	g.chr16:69143315C>T	BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.17C>T	16.37:g.69143315C>T	ENSP00000304440:p.Thr6Met					HAS3_ENST00000569188.1_Missense_Mutation_p.T6M|HAS3_ENST00000219322.3_Missense_Mutation_p.T6M	p.T6M	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0694)	2	173	+		Ovarian(137;0.101)	6					A8K5T5|Q8WTZ0|Q9NYP0	Missense_Mutation	SNP	ENST00000306560.1	37	c.17C>T	CCDS10871.1	3	0.0013736263736263737	0	0.0	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	C	12.04	1.817547	0.32145	0.00182	0.004535	ENSG00000103044	ENST00000219322;ENST00000306560	T;T	0.45668	0.89;0.91	5.56	4.54	0.55810	.	0.424586	0.28566	N	0.014881	T	0.24236	0.0587	N	0.12182	0.205	0.23198	N	0.998133	B;D	0.59767	0.109;0.986	B;P	0.48454	0.021;0.578	T	0.11203	-1.0597	10	0.49607	T	0.09	-0.4444	12.6873	0.56954	0.1205:0.7477:0.1318:0.0	.	6;6	O00219;O00219-2	HAS3_HUMAN;.	M	6	ENSP00000219322:T6M;ENSP00000304440:T6M	ENSP00000219322:T6M	T	+	2	0	HAS3	67700816	0.702000	0.27816	0.996000	0.52242	0.919000	0.55068	1.886000	0.39688	2.649000	0.89929	0.556000	0.70494	ACG		0.607	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2	NM_138612		4	32	0	0	0	1	0	4	32					T	69143315	C	T	69143315	3	4	199	1	0	0	0	0	1	0	0	0	6963	536	19	1	19	1	HAS3	16	69143315	Missense_Mutation	SNP	C	TCGA-EL-A3CU-01A-11D-A19J-08		69143315	21211438	18	4241											
CYB5D1	124637	broad.mit.edu	37	chr17	7761468	7761468	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccatgccgcgccggggcCtggtggctgggccagacttg	18	13	0	1			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr17:7761468C>T	ENST00000332439.4	+	1	168	c.16C>T	c.(16-18)Ctg>Ttg	p.L6L	LSMD1_ENST00000576384.1_5'Flank|LSMD1_ENST00000333775.5_5'Flank|LSMD1_ENST00000575771.1_5'Flank|CYB5D1_ENST00000570446.1_Silent_p.L6L|CYB5D1_ENST00000571846.1_Silent_p.L6L|LSMD1_ENST00000575208.1_5'Flank|LSMD1_ENST00000576861.1_Intron|LSMD1_ENST00000570555.1_Intron|LSMD1_ENST00000335155.5_5'Flank|LSMD1_ENST00000575071.1_5'Flank	NM_144607.4	NP_653208.2	Q6P9G0	CB5D1_HUMAN	cytochrome b5 domain containing 1	6							heme binding (GO:0020037)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(2)|skin(2)	6		all_cancers(10;0.11)|Prostate(122;0.219)				GCGCCGGGGCCTGGTGGCTGG	0.587																																						ENST00000332439.4																			0				breast(1)|endometrium(1)|large_intestine(2)|skin(2)	6						c.(16-18)Ctg>Ttg		cytochrome b5 domain containing 1							73	81	78					17																	7761468		2203	4300	6503	SO:0001819	synonymous_variant	124637						heme binding	g.chr17:7761468C>T	AK057061	CCDS11123.1	17p13.1	2006-01-12	2006-01-12						26516	protein-coding gene	gene with protein product						12477932	Standard	NM_144607		Approved	FLJ32499	uc002gjb.4	Q6P9G0		ENST00000332439.4:c.16C>T	17.37:g.7761468C>T						LSMD1_ENST00000576861.1_Intron|CYB5D1_ENST00000571846.1_Silent_p.L6L|CYB5D1_ENST00000570446.1_Silent_p.L6L|LSMD1_ENST00000570555.1_Intron	p.L6L	NM_144607.4	NP_653208.2	Q6P9G0	CB5D1_HUMAN			1	168	+		all_cancers(10;0.11)|Prostate(122;0.219)	6					D3DTQ8|Q96DM7	Silent	SNP	ENST00000332439.4	37	c.16C>T	CCDS11123.1																																																																																				0.587	CYB5D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440841.1	NM_144607		25	63	0	0	0	1	0	25	63					T	7761468	C	T	7761468	2	4	199	1	0	0	0	0	0	0	0	1	4124	680	24	2		2	CYB5D1	17	7761468	Silent	SNP	C	TCGA-EL-A3CU-01A-11D-A19J-08		7761468	73433742	19	4242											
MICALL1	85377	broad.mit.edu	37	chr22	38318081	38318081	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgccaggctgggcccgggGacacggtcggggaccaggcc	19	13	0	0			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr22:38318081G>A	ENST00000215957.6	+	6	798	c.672G>A	c.(670-672)ggG>ggA	p.G224G		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	224	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					TGGGCCCGGGGACACGGTCGG	0.652																																						ENST00000215957.6																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24						c.(670-672)ggG>ggA		MICAL-like 1							34	35	35					22																	38318081		2203	4300	6503	SO:0001819	synonymous_variant	85377					cytoplasm|cytoskeleton	protein binding|zinc ion binding	g.chr22:38318081G>A	BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"molecule interacting with Rab13"					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.672G>A	22.37:g.38318081G>A							p.G224G	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN			6	798	+	Melanoma(58;0.045)		224			LIM zinc-binding.		Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Silent	SNP	ENST00000215957.6	37	c.672G>A	CCDS13961.1																																																																																				0.652	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386		4	40	0	0	0	1	0	4	40					A	38318081	G	A	38318081	2	1	199	1	0	0	0	0	0	0	0	1	9573	1161	41	2		2	MICALL1	22	38318081	Silent	SNP	G	TCGA-EL-A3CU-01A-11D-A19J-08		38318081	12986485	20	4243											
MORF4L2	9643	broad.mit.edu	37	chrX	102931475	102931475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcttgcaatttgcatactCctccagaattgcatctacat	4	11	2	1			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chrX:102931475C>T	ENST00000441076.2	-	4	785	c.481G>A	c.(481-483)Gag>Aag	p.E161K	MORF4L2_ENST00000433176.2_Missense_Mutation_p.E161K|MORF4L2_ENST00000422154.2_Missense_Mutation_p.E161K|MORF4L2_ENST00000492116.1_5'Flank|MORF4L2_ENST00000451301.1_Missense_Mutation_p.E161K|MORF4L2_ENST00000423833.2_Missense_Mutation_p.E161K|MORF4L2_ENST00000360458.1_Missense_Mutation_p.E161K	NM_001142419.1|NM_012286.2	NP_001135891.1|NP_036418.1	Q15014	MO4L2_HUMAN	mortality factor 4 like 2	161	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.				chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA repair (GO:0006281)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						TTTGCATACTCCTCCAGAATT	0.388																																						ENST00000423833.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						c.(481-483)Gag>Aag		mortality factor 4 like 2							139	138	138					X																	102931475		2203	4300	6503	SO:0001583	missense	9643				chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding	g.chrX:102931475C>T	AF100620	CCDS14512.1	Xq22	2010-11-24			ENSG00000123562	ENSG00000123562			16849	protein-coding gene	gene with protein product	"MORF-related gene X"	300409				9891081, 7584026	Standard	NM_012286		Approved	KIAA0026, MRGX	uc011msa.2	Q15014	OTTHUMG00000022104	ENST00000441076.2:c.481G>A	X.37:g.102931475C>T	ENSP00000391969:p.Glu161Lys					MORF4L2_ENST00000451301.1_Missense_Mutation_p.E161K|MORF4L2_ENST00000441076.2_Missense_Mutation_p.E161K|MORF4L2_ENST00000372620.1_Missense_Mutation_p.E43K|MORF4L2_ENST00000422154.2_Missense_Mutation_p.E161K|MORF4L2_ENST00000360458.1_Missense_Mutation_p.E161K|MORF4L2_ENST00000433176.2_Missense_Mutation_p.E161K	p.E161K			Q15014	MO4L2_HUMAN			3	1706	-			161					B3KP92|D3DXA5|Q567V0|Q8J026	Missense_Mutation	SNP	ENST00000441076.2	37	c.481G>A	CCDS14512.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.569705	0.45798	.	.	ENSG00000123562	ENST00000360458;ENST00000372620;ENST00000433176;ENST00000422154;ENST00000451301;ENST00000372619;ENST00000441076;ENST00000423833;ENST00000434230;ENST00000418819	T;T;T;T;T;T;T;T;T	0.09073	3.02;3.02;3.02;3.02;3.02;3.02;3.02;3.02;3.02	4.79	4.79	0.61399	.	0.147155	0.64402	D	0.000012	T	0.06600	0.0169	N	0.24115	0.695	0.58432	D	0.999992	P	0.36837	0.571	B	0.35114	0.196	T	0.47971	-0.9075	10	0.24483	T	0.36	-10.4886	14.5691	0.68200	0.0:1.0:0.0:0.0	.	161	Q15014	MO4L2_HUMAN	K	161;43;161;161;161;143;161;161;161;161	ENSP00000353643:E161K;ENSP00000361703:E43K;ENSP00000415476:E161K;ENSP00000394417:E161K;ENSP00000410532:E161K;ENSP00000391969:E161K;ENSP00000416120:E161K;ENSP00000413664:E161K;ENSP00000393283:E161K	ENSP00000353643:E161K	E	-	1	0	MORF4L2	102818131	1.000000	0.71417	0.975000	0.42487	0.446000	0.32137	5.815000	0.69215	2.618000	0.88619	0.600000	0.82982	GAG		0.388	MORF4L2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057732.1	NM_012286		61	158	0	0	0	1	0	61	158					T	102931475	C	T	102931475	3	4	199	1	0	0	0	0	1	0	0	0	9707	864	30	2	389	2	MORF4L2	23	102931475	Missense_Mutation	SNP	C	TCGA-EL-A3CU-01A-11D-A19J-08		102931475	52339085	21	4244											
GPR119	139760	broad.mit.edu	37	chrX	129519127	129519127	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggtacctgtcaaaggtgaTcagcatgaccgtgaggacag	13	8	2	3			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chrX:129519127T>G	ENST00000276218.2	-	1	384	c.295A>C	c.(295-297)Atc>Ctc	p.I99L		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	99					insulin secretion (GO:0030073)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						TCAAAGGTGATCAGCATGACC	0.592																																						ENST00000276218.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						c.(295-297)Atc>Ctc		G protein-coupled receptor 119							129	126	127					X																	129519127		2203	4300	6503	SO:0001583	missense	139760					integral to membrane|plasma membrane	lipid binding	g.chrX:129519127T>G	AY288416	CCDS14625.1	Xq26.1	2014-01-30			ENSG00000147262	ENSG00000147262		"GPCR / Class A : Orphans"	19060	protein-coding gene	gene with protein product		300513				12044878, 14623098	Standard	NM_178471		Approved	hGPCR2, GPCR2	uc011muv.2	Q8TDV5	OTTHUMG00000022397	ENST00000276218.2:c.295A>C	X.37:g.129519127T>G	ENSP00000276218:p.Ile99Leu						p.I99L	NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN			1	384	-			99					Q495H7|Q4VBN3	Missense_Mutation	SNP	ENST00000276218.2	37	c.295A>C	CCDS14625.1	.	.	.	.	.	.	.	.	.	.	T	19.57	3.851536	0.71719	.	.	ENSG00000147262	ENST00000276218	T	0.79141	-1.24	5.06	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.065684	0.64402	D	0.000014	D	0.83151	0.5192	M	0.75615	2.305	0.43846	D	0.996432	D	0.57899	0.981	P	0.58077	0.832	D	0.84217	0.0459	10	0.59425	D	0.04	-12.0252	7.9914	0.30242	0.0:0.0957:0.0:0.9043	.	99	Q8TDV5	GP119_HUMAN	L	99	ENSP00000276218:I99L	ENSP00000276218:I99L	I	-	1	0	GPR119	129346808	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.434000	0.52841	1.872000	0.54250	0.417000	0.27973	ATC		0.592	GPR119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058270.1	NM_178471		52	114	0	0	0	1	0	52	114					G	129519127	T	G	129519127	3	3	199	1	0	0	0	0	1	0	0	0	6634	1435	50	5	716	5	GPR119	23	129519127	Missense_Mutation	SNP	T	TCGA-EL-A3CU-01A-11D-A19J-08	26587652	129519127	25751433	22	4245											
SCN3A	6328	broad.mit.edu	37	chr2	166027021	166027021	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggcagaggtggcactgaatCggaaaattgcctttccttta	11	8	0	2			TCGA-EL-A3CV-01A-11D-A19J-08	TCGA-EL-A3CV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1753e9c-29d0-4955-89d2-949cdabd1211	48b6e8f8-3784-4f66-892f-5c294e06c306	g.chr2:166027021C>T	ENST00000360093.3	-	4	793	c.302G>A	c.(301-303)cGa>cAa	p.R101Q	SCN3A_ENST00000283254.7_Missense_Mutation_p.R101Q|SCN3A_ENST00000409101.3_Missense_Mutation_p.R101Q	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	101					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)	p.R101L(2)		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)	GGCACTGAATCGGAAAATTGC	0.308																																						ENST00000360093.3																			2	Substitution - Missense(2)	p.R101L(2)	lung(2)	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.(301-303)cGa>cAa		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						51	52	52					2																	166027021		2203	4293	6496	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166027021C>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.302G>A	2.37:g.166027021C>T	ENSP00000353206:p.Arg101Gln					SCN3A_ENST00000409101.3_Missense_Mutation_p.R101Q|SCN3A_ENST00000283254.7_Missense_Mutation_p.R101Q	p.R101Q	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			4	793	-			101					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.302G>A		.	.	.	.	.	.	.	.	.	.	C	26.3	4.719825	0.89205	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431;ENST00000453007	D;D;D;D;D	0.97831	-4.55;-4.56;-4.51;-4.34;-3.76	4.97	4.97	0.65823	.	0.000000	0.47093	D	0.000253	D	0.99152	0.9707	H	0.95816	3.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.76575	0.988;0.982;0.986	D	0.99194	1.0871	10	0.87932	D	0	.	18.5973	0.91234	0.0:1.0:0.0:0.0	.	101;101;101	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	Q	101	ENSP00000353206:R101Q;ENSP00000283254:R101Q;ENSP00000386726:R101Q;ENSP00000403348:R101Q;ENSP00000391569:R101Q	ENSP00000283254:R101Q	R	-	2	0	SCN3A	165735267	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.443000	0.82685	0.650000	0.86243	CGA		0.308	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		6	40	0	0	0	1	0	6	40					T	166027021	C	T	166027021	3	4	200	1	0	0	0	0	1	0	0	0	13918	884	31	1	5896	1	SCN3A	2	166027021	Missense_Mutation	SNP	C	TCGA-EL-A3CV-01A-11D-A19J-08		166027021	77172352	1	4246											
TRANK1	9881	broad.mit.edu	37	chr3	36872912	36872912	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatgccctcctcaacttcCgctgtatggaggccttccgt	10	15	1	0			TCGA-EL-A3CV-01A-11D-A19J-08	TCGA-EL-A3CV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1753e9c-29d0-4955-89d2-949cdabd1211	48b6e8f8-3784-4f66-892f-5c294e06c306	g.chr3:36872912C>T	ENST00000429976.2	-	21	8277	c.8030G>A	c.(8029-8031)cGg>cAg	p.R2677Q	TRANK1_ENST00000301807.6_Missense_Mutation_p.R2127Q|TRANK1_ENST00000428977.2_Missense_Mutation_p.R2127Q	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2677							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCTCAACTTCCGCTGTATGGA	0.577																																						ENST00000301807.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(6379-6381)cGg>cAg		tetratricopeptide repeat and ankyrin repeat containing 1							58	59	59					3																	36872912		2080	4211	6291	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36872912C>T	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.8030G>A	3.37:g.36872912C>T	ENSP00000416168:p.Arg2677Gln					TRANK1_ENST00000428977.2_Missense_Mutation_p.R2127Q|TRANK1_ENST00000429976.2_Missense_Mutation_p.R2677Q	p.R2127Q	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN			21	8277	-			2677					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.6380G>A	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	10.79	1.449938	0.26074	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.37058	1.22;1.65;1.22	5.49	2.76	0.32466	.	0.229316	0.31145	N	0.008161	T	0.20170	0.0485	N	0.20986	0.625	0.09310	N	1	B	0.26002	0.139	B	0.13407	0.009	T	0.17137	-1.0379	10	0.20046	T	0.44	.	9.0459	0.36347	0.0:0.7193:0.0:0.2807	.	2677	O15050	TRNK1_HUMAN	Q	2127;2677;2127	ENSP00000416826:R2127Q;ENSP00000416168:R2677Q;ENSP00000301807:R2127Q	ENSP00000301807:R2127Q	R	-	2	0	TRANK1	36847916	0.146000	0.22672	0.084000	0.20598	0.382000	0.30200	0.250000	0.18235	0.392000	0.25172	0.561000	0.74099	CGG		0.577	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		5	12	0	0	0	1	0	5	12					T	36872912	C	T	36872912	3	4	200	1	0	0	0	0	1	0	0	0	16451	652	23	1	759	1	TRANK1	3	36872912	Missense_Mutation	SNP	C	TCGA-EL-A3CV-01A-11D-A19J-08		36872912	161149518	2	4247											
PTCD2	79810	broad.mit.edu	37	chr5	71638813	71638813	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatggcaaaagctgtgtccAttttttctcaaatcatgaat	7	7	2	2			TCGA-EL-A3CV-01A-11D-A19J-08	TCGA-EL-A3CV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1753e9c-29d0-4955-89d2-949cdabd1211	48b6e8f8-3784-4f66-892f-5c294e06c306	g.chr5:71638813A>G	ENST00000380639.5	+	8	794	c.778A>G	c.(778-780)Att>Gtt	p.I260V	PTCD2_ENST00000503868.1_Missense_Mutation_p.I151V|PTCD2_ENST00000460837.2_3'UTR|PTCD2_ENST00000543322.1_3'UTR|PTCD2_ENST00000536805.1_Missense_Mutation_p.I88V	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	260					kidney development (GO:0001822)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|muscle fiber development (GO:0048747)|regulation of mRNA processing (GO:0050684)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		AGCTGTGTCCATTTTTTCTCA	0.313																																						ENST00000380639.5																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11						c.(778-780)Att>Gtt		pentatricopeptide repeat domain 2							79	76	77					5																	71638813		2203	4297	6500	SO:0001583	missense	79810							g.chr5:71638813A>G	BC018720	CCDS4014.2, CCDS68891.1, CCDS68892.1, CCDS75258.1	5q13.2	2008-02-05			ENSG00000049883	ENSG00000049883			25734	protein-coding gene	gene with protein product		615484				12477932	Standard	XM_005248601		Approved	FLJ12598	uc003kcb.3	Q8WV60	OTTHUMG00000100953	ENST00000380639.5:c.778A>G	5.37:g.71638813A>G	ENSP00000370013:p.Ile260Val					PTCD2_ENST00000543322.1_3'UTR|PTCD2_ENST00000536805.1_Missense_Mutation_p.I88V|PTCD2_ENST00000503868.1_Missense_Mutation_p.I151V|PTCD2_ENST00000460837.2_3'UTR	p.I260V	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)	8	794	+		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)	260					B7Z5D0|B7Z8L7|E9PFV7|Q6IA65|Q9H9R0	Missense_Mutation	SNP	ENST00000380639.5	37	c.778A>G	CCDS4014.2	.	.	.	.	.	.	.	.	.	.	A	11.56	1.675508	0.29783	.	.	ENSG00000049883	ENST00000380639;ENST00000503868;ENST00000510676;ENST00000536805	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.3	4.13	0.48395	.	0.339502	0.31673	N	0.007249	T	0.35128	0.0921	M	0.76574	2.34	0.24533	N	0.994108	P;P;B	0.42871	0.792;0.571;0.278	B;B;B	0.37601	0.254;0.173;0.084	T	0.27905	-1.0060	10	0.20519	T	0.43	.	5.1549	0.15029	0.7542:0.0:0.0878:0.158	.	151;88;260	E9PFV7;B7Z8L7;Q8WV60	.;.;PTCD2_HUMAN	V	260;151;89;88	ENSP00000370013:I260V;ENSP00000427349:I151V;ENSP00000426295:I89V;ENSP00000444772:I88V	ENSP00000308948:I260V	I	+	1	0	PTCD2	71674569	0.777000	0.28628	1.000000	0.80357	0.621000	0.37620	0.988000	0.29616	2.017000	0.59298	0.377000	0.23210	ATT		0.313	PTCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218562.6	NM_024754		14	39	0	0	0	1	0	14	39					G	71638813	A	G	71638813	3	3	200	1	0	0	0	0	1	0	0	0	12728	217	8	3	808	3	PTCD2	5	71638813	Missense_Mutation	SNP	A	TCGA-EL-A3CV-01A-11D-A19J-08		71638813	109276447	3	4248											
ZKSCAN3	80317	broad.mit.edu	37	chr6	28333660	28333660	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagtgtgatgactgtgggaaGaccttcagccagagctgcag	15	8	1	4			TCGA-EL-A3CV-01A-11D-A19J-08	TCGA-EL-A3CV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1753e9c-29d0-4955-89d2-949cdabd1211	48b6e8f8-3784-4f66-892f-5c294e06c306	g.chr6:28333660G>T	ENST00000377255.3	+	7	1512	c.1215G>T	c.(1213-1215)aaG>aaT	p.K405N	ZKSCAN3_ENST00000341464.5_Missense_Mutation_p.K257N|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.K405N	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	405					autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						ACTGTGGGAAGACCTTCAGCC	0.507																																						ENST00000377255.3																			0				kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						c.(1213-1215)aaG>aaT		zinc finger with KRAB and SCAN domains 3							81	80	81					6																	28333660		2203	4300	6503	SO:0001583	missense	80317				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28333660G>T	U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"Zinc fingers, C2H2-type", "-", "-", "-"	13853	protein-coding gene	gene with protein product		612791	"zinc finger protein 306", "zinc finger protein 309"	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.1215G>T	6.37:g.28333660G>T	ENSP00000366465:p.Lys405Asn					ZKSCAN3_ENST00000341464.5_Missense_Mutation_p.K257N|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.K405N	p.K405N	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN			7	1512	+			405					B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Missense_Mutation	SNP	ENST00000377255.3	37	c.1215G>T	CCDS4650.1	.	.	.	.	.	.	.	.	.	.	.	16.19	3.054040	0.55218	.	.	ENSG00000189298	ENST00000252211;ENST00000341464;ENST00000377255	T;T;T	0.27890	1.64;1.64;1.64	3.97	-2.91	0.05631	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47691	0.1459	M	0.92219	3.285	0.09310	N	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.49707	-0.8911	9	0.87932	D	0	.	12.1222	0.53897	0.8077:0.0:0.1923:0.0	.	405	Q9BRR0	ZKSC3_HUMAN	N	405;257;405	ENSP00000252211:K405N;ENSP00000341883:K257N;ENSP00000366465:K405N	ENSP00000252211:K405N	K	+	3	2	ZKSCAN3	28441639	0.000000	0.05858	0.957000	0.39632	0.991000	0.79684	-0.662000	0.05305	-0.510000	0.06523	0.655000	0.94253	AAG		0.507	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3	NM_024493		21	60	1	0	2.4624e-09	1	2.74652e-09	21	60					T	28333660	G	T	28333660	3	4	200	1	0	0	0	0	1	0	0	0	17685	933	33	4	1233	4	ZKSCAN3	6	28333660	Missense_Mutation	SNP	G	TCGA-EL-A3CV-01A-11D-A19J-08		28333660	142781407	4	4249											
CNR1	1268	broad.mit.edu	37	chr6	88854344	88854344	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aggccaggggcctgtgaatgGatatgtacctgtcgatggct	15	8	0	1			TCGA-EL-A3CV-01A-11D-A19J-08	TCGA-EL-A3CV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1753e9c-29d0-4955-89d2-949cdabd1211	48b6e8f8-3784-4f66-892f-5c294e06c306	g.chr6:88854344G>T	ENST00000537554.1	-	2	4212	c.650C>A	c.(649-651)tCc>tAc	p.S217Y	CNR1_ENST00000535130.1_Missense_Mutation_p.S217Y|CNR1_ENST00000468898.1_Missense_Mutation_p.S184Y|CNR1_ENST00000428600.2_Missense_Mutation_p.S217Y|CNR1_ENST00000369501.2_Missense_Mutation_p.S217Y|CNR1_ENST00000549890.1_Missense_Mutation_p.S217Y|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369499.2_Missense_Mutation_p.S217Y|CNR1_ENST00000549716.1_Missense_Mutation_p.S156Y	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	217					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CCTGTGAATGGATATGTACCT	0.577																																						ENST00000537554.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37						c.(649-651)tCc>tAc		cannabinoid receptor 1 (brain)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						41	42	42					6																	88854344		2203	4299	6502	SO:0001583	missense	0				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88854344G>T	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"GPCR / Class A : Cannabinoid receptors"	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.650C>A	6.37:g.88854344G>T	ENSP00000441046:p.Ser217Tyr					CNR1_ENST00000549716.1_Missense_Mutation_p.S156Y|CNR1_ENST00000535130.1_Missense_Mutation_p.S217Y|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369499.2_Missense_Mutation_p.S217Y|CNR1_ENST00000468898.1_Missense_Mutation_p.S184Y|CNR1_ENST00000428600.2_Missense_Mutation_p.S217Y|CNR1_ENST00000549890.1_Missense_Mutation_p.S217Y|CNR1_ENST00000369501.2_Missense_Mutation_p.S217Y	p.S217Y	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	4212	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	217					B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	ENST00000537554.1	37	c.650C>A	CCDS5015.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592815	0.46214	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000549716	T;T;T;T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14;1.14;1.14;1.14	5.9	5.03	0.67393	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.58192	0.2105	M	0.84948	2.725	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.99	T	0.68941	-0.5276	10	0.87932	D	0	.	17.0836	0.86604	0.0:0.1269:0.8731:0.0	.	184;217	P21554-3;P21554	.;CNR1_HUMAN	Y	217;217;217;217;217;184;217;156	ENSP00000358513:S217Y;ENSP00000442689:S217Y;ENSP00000441046:S217Y;ENSP00000358511:S217Y;ENSP00000446819:S217Y;ENSP00000420188:S184Y;ENSP00000412192:S217Y;ENSP00000449549:S156Y	ENSP00000358511:S217Y	S	-	2	0	CNR1	88911063	1.000000	0.71417	0.962000	0.40283	0.480000	0.33159	9.869000	0.99810	1.488000	0.48433	-0.175000	0.13238	TCC		0.577	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			10	40	1	0	0.000442599	1	0.000458406	10	40					T	88854344	G	T	88854344	3	4	200	1	0	0	0	0	1	0	0	0	3631	1174	41	4	772	4	CNR1	6	88854344	Missense_Mutation	SNP	G	TCGA-EL-A3CV-01A-11D-A19J-08	60520684	88854344	82260723	5	4250											
ZBTB24	9841	broad.mit.edu	37	chr6	109787075	109787075	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagctctgctcctggccaagTggcgttggctggggcacgtg	16	12	1	0			TCGA-EL-A3CV-01A-11D-A19J-08	TCGA-EL-A3CV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1753e9c-29d0-4955-89d2-949cdabd1211	48b6e8f8-3784-4f66-892f-5c294e06c306	g.chr6:109787075T>A	ENST00000230122.3	-	7	2240	c.2073A>T	c.(2071-2073)ccA>ccT	p.P691P	MICAL1_ENST00000368952.4_5'UTR	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	691					hematopoietic progenitor cell differentiation (GO:0002244)|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)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		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;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		CCTGGCCAAGTGGCGTTGGCT	0.537																																						ENST00000230122.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22						c.(2071-2073)ccA>ccT		zinc finger and BTB domain containing 24							110	107	108					6																	109787075		2203	4300	6503	SO:0001819	synonymous_variant	9841				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:109787075T>A	AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	21143	protein-coding gene	gene with protein product	"POZ (BTB) and AT hook containing zinc finger 2"	614064	"zinc finger protein 450"	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.2073A>T	6.37:g.109787075T>A						MICAL1_ENST00000368952.4_5'UTR	p.P691P	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)	7	2240	-		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)	691					Q17RC6|Q5TED5|Q8N455	Silent	SNP	ENST00000230122.3	37	c.2073A>T	CCDS34509.1																																																																																				0.537	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		12	46	0	0	0	1	0	12	46					A	109787075	T	A	109787075	2	1	200	1	0	0	0	0	0	0	0	1	17528	1683	59	5		5	ZBTB24	6	109787075	Silent	SNP	T	TCGA-EL-A3CV-01A-11D-A19J-08	20932731	109787075	61327992	6	4251											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3CV-01A-11D-A19J-08	TCGA-EL-A3CV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1753e9c-29d0-4955-89d2-949cdabd1211	48b6e8f8-3784-4f66-892f-5c294e06c306	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		12	56	0	0	0	1	0	12	56					T	140453136	A	T	140453136	3	4	200	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3CV-01A-11D-A19J-08		140453136	18685527	7	4252											
C1QTNF9B	387911	broad.mit.edu	37	chr13	24465897	24465897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttccagcctcttattcccCggactcctggctcaccctgg	7	18	2	0			TCGA-EL-A3CV-01A-11D-A19J-08	TCGA-EL-A3CV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1753e9c-29d0-4955-89d2-949cdabd1211	48b6e8f8-3784-4f66-892f-5c294e06c306	g.chr13:24465897C>T	ENST00000382140.2	-	5	593	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B-AS1_ENST00000435039.2_RNA|MIPEP_ENST00000469167.1_5'Flank|MIPEP_ENST00000382172.3_5'Flank|C1QTNF9B_ENST00000382137.3_Missense_Mutation_p.R178Q|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B-AS1_ENST00000417034.1_RNA			B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	178	Collagen-like 3.					collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						TCTTATTCCCCGGACTCCTGG	0.587																																						ENST00000382137.3																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						c.(532-534)cGg>cAg		C1q and tumor necrosis factor related protein 9B							32	41	38					13																	24465897		2201	4297	6498	SO:0001583	missense	387911					collagen		g.chr13:24465897C>T	BC110413	CCDS31947.1	13q12.12	2011-05-08			ENSG00000205863	ENSG00000205863			34072	protein-coding gene	gene with protein product		614148				17544811	Standard	NM_001007537		Approved	CTRP9B	uc010tcv.1	B2RNN3	OTTHUMG00000016570	ENST00000382140.2:c.533G>A	13.37:g.24465897C>T	ENSP00000371575:p.Arg178Gln					C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.R178Q|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B_ENST00000382057.3_Intron	p.R178Q	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN			3	601	-			178			Collagen-like 3.		A2A3T6|B9EH31|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	ENST00000382140.2	37	c.533G>A	CCDS31947.1	.	.	.	.	.	.	.	.	.	.	c	13.47	2.246859	0.39697	.	.	ENSG00000205863	ENST00000382137;ENST00000382140	D;D	0.96136	-3.92;-3.92	4.26	3.24	0.37175	.	0.122397	0.64402	D	0.000018	D	0.89336	0.6686	L	0.48362	1.52	0.80722	D	1	B	0.29037	0.231	B	0.15484	0.013	T	0.83168	-0.0095	10	0.23302	T	0.38	.	2.9984	0.06005	0.0:0.5062:0.0:0.4938	.	178	B2RNN3	C1T9B_HUMAN	Q	178	ENSP00000371572:R178Q;ENSP00000371575:R178Q	ENSP00000371572:R178Q	R	-	2	0	C1QTNF9B	23363897	0.846000	0.29590	0.928000	0.36995	0.984000	0.73092	1.463000	0.35277	1.950000	0.56595	0.456000	0.33151	CGG		0.587	C1QTNF9B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044162.3	NM_001007537		3	41	0	0	0	1	0	3	41					T	24465897	C	T	24465897	3	4	200	1	0	0	0	0	1	0	0	0	1971	652	23	1	471	1	C1QTNF9B	13	24465897	Missense_Mutation	SNP	C	TCGA-EL-A3CV-01A-11D-A19J-08		24465897	90703981	8	4253											
CHCHD10	400916	broad.mit.edu	37	chr22	24109618	24109618	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctgaaggctccggtcagGgcgctgcccatgacgtgtcc	14	15	1	2			TCGA-EL-A3CV-01A-11D-A19J-08	TCGA-EL-A3CV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1753e9c-29d0-4955-89d2-949cdabd1211	48b6e8f8-3784-4f66-892f-5c294e06c306	g.chr22:24109618G>A	ENST00000484558.2	-	2	772	c.204C>T	c.(202-204)gcC>gcT	p.A68A	CHCHD10_ENST00000520222.1_Intron|CHCHD10_ENST00000401675.3_Silent_p.A68A			Q8WYQ3	CHC10_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 10	68					ATP biosynthetic process (GO:0006754)|negative regulation of ATP citrate synthase activity (GO:2000984)|oxidative phosphorylation (GO:0006119)	mitochondrion (GO:0005739)				large_intestine(2)|lung(1)	3						CTCCGGTCAGGGCGCTGCCCA	0.692																																						ENST00000484558.2																			0				large_intestine(2)|lung(1)	3						c.(202-204)gcC>gcT		coiled-coil-helix-coiled-coil-helix domain containing 10							8	8	8					22																	24109618		2178	4262	6440	SO:0001819	synonymous_variant	400916					mitochondrion		g.chr22:24109618G>A	AB050774	CCDS13815.1	22q11.23	2011-03-28	2008-06-13	2008-06-13	ENSG00000250479	ENSG00000250479		"Coiled-coil-helix-coiled-coil-helix domain containing"	15559	protein-coding gene	gene with protein product		615903	"chromosome 22 open reading frame 16"	C22orf16			Standard	XM_006724241		Approved	N27C7-4	uc002zxw.3	Q8WYQ3	OTTHUMG00000150736	ENST00000484558.2:c.204C>T	22.37:g.24109618G>A						CHCHD10_ENST00000520222.1_Intron|CHCHD10_ENST00000401675.3_Silent_p.A68A	p.A68A			Q8WYQ3	CHC10_HUMAN			2	772	-			68					A8K0J5	Silent	SNP	ENST00000484558.2	37	c.204C>T	CCDS13815.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090009	0.36855	.	.	ENSG00000250479	ENST00000521886	.	.	.	3.66	1.51	0.23008	.	.	.	.	.	T	0.63034	0.2477	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62642	-0.6811	5	0.87932	D	0	-15.7957	8.0328	0.30476	0.2161:0.0:0.7839:0.0	.	.	.	.	S	35	.	ENSP00000429976:P51S	P	-	1	0	CHCHD10	22439618	0.999000	0.42202	1.000000	0.80357	0.978000	0.69477	0.416000	0.21198	0.334000	0.23590	0.306000	0.20318	CCT		0.692	CHCHD10-001	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000319870.2	NM_213720		2	3	0	0	0	1	0	2	3					A	24109618	G	A	24109618	2	1	200	1	0	0	0	0	0	0	0	1	3315	1219	43	2		2	CHCHD10	22	24109618	Silent	SNP	G	TCGA-EL-A3CV-01A-11D-A19J-08		24109618	27194948	9	4254											
MPZ	4359	broad.mit.edu	37	chr1	161279666	161279666	+	Frame_Shift_Del	DEL	G	G	-													agcacagccaggatagggctGgggctggatgagggagcccc							TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr1:161279666delG	ENST00000533357.1	-	1	96	c.30delC	c.(28-30)cccfs	p.P10fs	MPZ_ENST00000491222.2_5'Flank|MPZ_ENST00000360451.6_Frame_Shift_Del_p.P20fs|MPZ_ENST00000336559.4_Frame_Shift_Del_p.P10fs|MPZ_ENST00000526189.1_5'Flank	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	myelin protein zero	10					cell death (GO:0008219)|cell-cell junction maintenance (GO:0045217)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			GGATAGGGCTGGGGCTGGATG	0.617																																						ENST00000533357.1																			0				central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(28-30)ccfs		myelin protein zero							16	17	17					1																	161279666		2199	4293	6492	SO:0001589	frameshift_variant	4359				synaptic transmission	integral to plasma membrane	structural molecule activity	g.chr1:161279666delG	BC006491	CCDS1229.1, CCDS1229.2	1q22	2014-09-17	2008-08-01		ENSG00000158887	ENSG00000158887		"Immunoglobulin superfamily / V-set domain containing"	7225	protein-coding gene	gene with protein product		159440	"Charcot-Marie-Tooth neuropathy 1B"	CMT1, CMT1B		7693129	Standard	NM_000530		Approved	HMSNIB	uc001gaf.4	P25189	OTTHUMG00000034341	ENST00000533357.1:c.30delC	1.37:g.161279666delG	ENSP00000432943:p.Pro10fs					MPZ_ENST00000336559.4_Frame_Shift_Del_p.P10fs|MPZ_ENST00000360451.6_Frame_Shift_Del_p.P20fs	p.P10fs	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		1	96	-	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	10					Q16072|Q5VTH4|Q92677|Q9BR67	Frame_Shift_Del	DEL	ENST00000533357.1	37	c.30delC	CCDS1229.2																																																																																				0.617	MPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082987.2	NM_000530		2	4						2	4	---	---	---	---	-	161279666	G	-	161279666	7	5	201	1	0	1	0	1	0	0	0	0	9748	1335	47	0	740	0	MPZ	1	161279666	Frame_Shift_Del	DEL	G	TCGA-EL-A3CW-01A-11D-A19J-08		161279666	87970955	1	4255											
TMEM161B	153396	broad.mit.edu	37	chr5	87493539	87493539	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcattaccagaggcgccacaTactgcagtgcaatgacacaa	9	12	0	2			TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr5:87493539T>C	ENST00000296595.6	-	11	1257	c.1133A>G	c.(1132-1134)tAt>tGt	p.Y378C	TMEM161B_ENST00000514135.1_Missense_Mutation_p.Y378C|TMEM161B_ENST00000512429.1_Missense_Mutation_p.Y367C|TMEM161B_ENST00000511218.1_Missense_Mutation_p.Y169C|TMEM161B_ENST00000506536.1_Intron|TMEM161B_ENST00000515293.1_5'UTR	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	378						integral component of membrane (GO:0016021)				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		AGGCGCCACATACTGCAGTGC	0.423																																						ENST00000296595.6																			0				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20						c.(1132-1134)tAt>tGt		transmembrane protein 161B							135	135	135					5																	87493539		2203	4300	6503	SO:0001583	missense	153396					integral to membrane		g.chr5:87493539T>C	BC037287	CCDS4065.1, CCDS75269.1, CCDS75270.1	5q14.3	2008-02-05			ENSG00000164180	ENSG00000164180			28483	protein-coding gene	gene with protein product						12477932	Standard	NM_001289008		Approved	MGC33214	uc003kjc.3	Q8NDZ6	OTTHUMG00000131323	ENST00000296595.6:c.1133A>G	5.37:g.87493539T>C	ENSP00000296595:p.Tyr378Cys					TMEM161B_ENST00000512429.1_Missense_Mutation_p.Y367C|TMEM161B_ENST00000511218.1_Missense_Mutation_p.Y169C|TMEM161B_ENST00000515293.1_5'UTR|TMEM161B_ENST00000506536.1_Intron|TMEM161B_ENST00000514135.1_Missense_Mutation_p.Y378C	p.Y378C	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)	11	1257	-		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)	378					Q5CZH7|Q6UWQ6	Missense_Mutation	SNP	ENST00000296595.6	37	c.1133A>G	CCDS4065.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.774543	0.90108	.	.	ENSG00000164180	ENST00000514135;ENST00000296595;ENST00000511218;ENST00000512429	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.80132	0.4567	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.82579	-0.0387	9	0.87932	D	0	-39.462	16.3839	0.83495	0.0:0.0:0.0:1.0	.	169;378	B7Z6A5;Q8NDZ6	.;T161B_HUMAN	C	378;378;169;367	.	ENSP00000296595:Y378C	Y	-	2	0	TMEM161B	87529295	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.258000	0.74832	0.533000	0.62120	TAT		0.423	TMEM161B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254094.1	NM_153354		4	85	0	0	0	0.184627	0	4	85					C	87493539	T	C	87493539	3	2	201	1	0	0	0	0	1	0	0	0	16074	1406	49	3	338	3	TMEM161B	5	87493539	Missense_Mutation	SNP	T	TCGA-EL-A3CW-01A-11D-A19J-08		87493539	93421721	2	4256											
SOX4	6659	broad.mit.edu	37	chr6	21595266	21595267	+	In_Frame_Ins	INS	-	-	GGC													gtggcgggggcggccatgggINSggcggcggcggcggcgggag					rs564094826	byFrequency	TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr6:21595266_21595267insGGC	ENST00000244745.1	+	1	1295_1296	c.501_502insGGC	c.(502-504)ggc>GGCggc	p.168_168G>GG	SOX4_ENST00000543472.1_In_Frame_Ins_p.168_168G>GG	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	168					ascending aorta morphogenesis (GO:0035910)|atrial septum primum morphogenesis (GO:0003289)|canonical Wnt signaling pathway (GO:0060070)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle formation (GO:0003211)|cellular response to glucose stimulus (GO:0071333)|DNA damage response, detection of DNA damage (GO:0042769)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endocrine pancreas development (GO:0031018)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|kidney morphogenesis (GO:0060993)|limb bud formation (GO:0060174)|mitral valve morphogenesis (GO:0003183)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|noradrenergic neuron differentiation (GO:0003357)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin secretion (GO:0032024)|positive regulation of N-terminal peptidyl-lysine acetylation (GO:2000761)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of Wnt signaling pathway (GO:0030177)|pro-B cell differentiation (GO:0002328)|protein stabilization (GO:0050821)|regulation of protein stability (GO:0031647)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spinal cord development (GO:0021510)|spinal cord motor neuron differentiation (GO:0021522)|sympathetic nervous system development (GO:0048485)|T cell differentiation (GO:0030217)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|nucleic acid binding transcription factor activity (GO:0001071)|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 transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			gcggccatgggggcggcggcgg	0.738														127	0.0253594	0.0923	0.0043	5008	,	,		7118	0		0.002	False		,,,				2504	0					ENST00000244745.1																			0				kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6						c.(499-504)gggcgg>ggGGCgcgg		SRY (sex determining region Y)-box 4																																				SO:0001652	inframe_insertion	6659				canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity	g.chr6:21595266_21595267insGGC	AF070669	CCDS4547.1	6p22.3	2008-02-05			ENSG00000124766	ENSG00000124766		"SRY (sex determining region Y)-boxes"	11200	protein-coding gene	gene with protein product		184430				8268656, 9730625	Standard	NM_003107		Approved		uc003ndi.3	Q06945	OTTHUMG00000016101	ENST00000244745.1:c.514_516dupGGC	6.37:g.21595273_21595275dupGGC	ENSP00000244745:p.Gly173dup					SOX4_ENST00000543472.1_In_Frame_Ins_p.167_168GR>GAR	p.167_168GR>GAR	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	all cancers(50;0.0751)|Epithelial(50;0.155)		1	1295_1296	+	Ovarian(93;0.163)		167						In_Frame_Ins	INS	ENST00000244745.1	37	c.501_502insGGC	CCDS4547.1																																																																																				0.738	SOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043301.1	NM_003107		3	5						3	5	---	---	---	---	GGC	21595267	-	GGC	21595266	7	5	201	1	0	1	1	0	0	0	0	0	14953	1219	43	0	503	0	SOX4	6	21595266	In_Frame_Ins	INS	-	TCGA-EL-A3CW-01A-11D-A19J-08		21595266	149519801	3	4257											
YWHAG	7532	broad.mit.edu	37	chr7	75959220	75959220	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caccgtcgcccttttctctcCggtggccacttcagccaggt	9	17	2	0			TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr7:75959220C>A	ENST00000307630.3	-	2	640	c.418G>T	c.(418-420)Gga>Tga	p.G140*		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma	140					apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of neuron differentiation (GO:0045664)|regulation of signal transduction (GO:0009966)|regulation of synaptic plasticity (GO:0048167)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	insulin-like growth factor receptor binding (GO:0005159)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)|protein kinase C inhibitor activity (GO:0008426)			endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						CTTTTCTCTCCGGTGGCCACT	0.562																																						ENST00000307630.3																			0				endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						c.(418-420)Gga>Tga		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide							137	137	137					7																	75959220		2203	4300	6503	SO:0001587	stop_gained	7532				G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity	g.chr7:75959220C>A	AF142498	CCDS5584.1	7q11.23	2014-06-13	2013-12-03		ENSG00000170027	ENSG00000170027			12852	protein-coding gene	gene with protein product	"14-3-3 gamma", "protein phosphatase 1, regulatory subunit 170"	605356	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide"			10486217, 10433554	Standard	NM_012479		Approved	PPP1R170	uc011kgj.1	P61981	OTTHUMG00000022862	ENST00000307630.3:c.418G>T	7.37:g.75959220C>A	ENSP00000306330:p.Gly140*						p.G140*	NM_012479.3	NP_036611.2	P61981	1433G_HUMAN			2	640	-			140					O70457|P35214|Q6FH52|Q9UDP2|Q9UN99	Nonsense_Mutation	SNP	ENST00000307630.3	37	c.418G>T	CCDS5584.1	.	.	.	.	.	.	.	.	.	.	C	37	6.109776	0.97291	.	.	ENSG00000170027	ENST00000307630;ENST00000536755;ENST00000453207	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.2853	0.90112	0.0:1.0:0.0:0.0	.	.	.	.	X	140;118;100	.	ENSP00000306330:G140X	G	-	1	0	YWHAG	75797156	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	7.616000	0.83018	2.793000	0.96121	0.650000	0.86243	GGA		0.562	YWHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253002.1	NM_012479		7	143	1	0	2.0095e-06	0.248553	2.35898e-06	7	143					A	75959220	C	A	75959220	4	1	201	1	0	0	0	0	0	1	0	0	17500	661	23	4	329	4	YWHAG	7	75959220	Nonsense_Mutation	SNP	C	TCGA-EL-A3CW-01A-11D-A19J-08		75959220	83179443	4	4258											
AP3M1	26985	broad.mit.edu	37	chr10	75883629	75883629	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgactcctttaaatggcttaTatttctccccatacatgtcc	4	12	1	1			TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr10:75883629T>C	ENST00000355264.4	-	9	1507	c.1196A>G	c.(1195-1197)tAt>tGt	p.Y399C	RP11-178G16.5_ENST00000599110.1_lincRNA|AP3M1_ENST00000372745.1_Missense_Mutation_p.Y399C	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	399	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|protein targeting to lysosome (GO:0006622)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	Rab GTPase binding (GO:0017137)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					AAATGGCTTATATTTCTCCCC	0.363																																						ENST00000355264.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13						c.(1195-1197)tAt>tGt		adaptor-related protein complex 3, mu 1 subunit							206	188	194					10																	75883629		2203	4300	6503	SO:0001583	missense	26985				protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding	g.chr10:75883629T>C	AF092092	CCDS7342.1	10q22.1-q22.3	2008-07-07			ENSG00000185009	ENSG00000185009			569	protein-coding gene	gene with protein product		610366				10024875	Standard	NM_207012		Approved		uc001jwh.3	Q9Y2T2	OTTHUMG00000018497	ENST00000355264.4:c.1196A>G	10.37:g.75883629T>C	ENSP00000347408:p.Tyr399Cys					AP3M1_ENST00000372745.1_Missense_Mutation_p.Y399C	p.Y399C	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN			9	1507	-	Prostate(51;0.0112)		399			MHD.		Q5JQ12|Q9H5L2	Missense_Mutation	SNP	ENST00000355264.4	37	c.1196A>G	CCDS7342.1	.	.	.	.	.	.	.	.	.	.	T	19.42	3.823571	0.71143	.	.	ENSG00000185009	ENST00000355264;ENST00000372745	T;T	0.23552	1.9;1.9	5.8	4.63	0.57726	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.59390	0.2190	M	0.93854	3.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	T	0.70124	-0.4958	10	0.87932	D	0	-7.5238	12.3787	0.55295	0.1257:0.0:0.0:0.8742	.	345;399	B4DRN6;Q9Y2T2	.;AP3M1_HUMAN	C	399	ENSP00000347408:Y399C;ENSP00000361831:Y399C	ENSP00000347408:Y399C	Y	-	2	0	AP3M1	75553635	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.915000	0.69973	2.216000	0.71823	0.533000	0.62120	TAT		0.363	AP3M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048747.1			9	189	0	0	0	0.335167	0	9	189					C	75883629	T	C	75883629	3	2	201	1	0	0	0	0	1	0	0	0	747	1406	49	3	64	3	AP3M1	10	75883629	Missense_Mutation	SNP	T	TCGA-EL-A3CW-01A-11D-A19J-08		75883629	59651118	5	4259											
ITPR2	3709	broad.mit.edu	37	chr12	26572040	26572040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatgcaaaccaggacatacGccacgtgatagagaaaggcc	11	11	0	2	rs372121234	byFrequency	TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr12:26572040G>A	ENST00000381340.3	-	50	7468	c.7052C>T	c.(7051-7053)gCg>gTg	p.A2351V	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2351					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CAGGACATACGCCACGTGATA	0.448													G|||	3	0.000599042	0.0023	0	5008	,	,		18574	0		0	False		,,,				2504	0					ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(7051-7053)gCg>gTg		inositol 1,4,5-trisphosphate receptor, type 2		G	VAL/ALA	1,4061		0,1,2030	89	97	95		7052	4.3	0.5	12		95	1,8375		0,1,4187	no	missense	ITPR2	NM_002223.2	64	0,2,6217	AA,AG,GG		0.0119,0.0246,0.0161	benign	2351/2702	26572040	2,12436	2031	4188	6219	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26572040G>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.7052C>T	12.37:g.26572040G>A	ENSP00000370744:p.Ala2351Val					RP11-513G19.1_ENST00000535324.1_RNA	p.A2351V	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			50	7468	-	Colorectal(261;0.0847)		2351					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.7052C>T	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	3.998	-0.003084	0.07773	2.46E-4	1.19E-4	ENSG00000123104	ENST00000381340	D	0.98178	-4.77	5.22	4.31	0.51392	Ion transport (1);	0.265675	0.37530	N	0.002051	D	0.94066	0.8098	L	0.31664	0.95	0.09310	N	0.999997	B	0.13145	0.007	B	0.15484	0.013	T	0.82135	-0.0607	10	0.10377	T	0.69	.	9.0202	0.36195	0.2156:0.0:0.7844:0.0	.	2351	Q14571	ITPR2_HUMAN	V	2351	ENSP00000370744:A2351V	ENSP00000370744:A2351V	A	-	2	0	ITPR2	26463307	0.001000	0.12720	0.524000	0.27887	0.944000	0.59088	1.196000	0.32198	2.716000	0.92895	0.655000	0.94253	GCG		0.448	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		4	59	0	0	0	0.150653	0	4	59					A	26572040	G	A	26572040	3	1	201	1	0	0	0	0	1	0	0	0	7921	1087	38	1	1085	1	ITPR2	12	26572040	Missense_Mutation	SNP	G	TCGA-EL-A3CW-01A-11D-A19J-08		26572040	107279855	6	4260											
RPAP3	79657	broad.mit.edu	37	chr12	48091473	48091473	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagactcatgggtactatcGtctttgtcaagctcatcaag	9	9	5	1	rs150350108		TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr12:48091473G>A	ENST00000005386.3	-	4	439	c.324C>T	c.(322-324)gaC>gaT	p.D108D	RPAP3_ENST00000432584.3_De_novo_Start_OutOfFrame|RPAP3_ENST00000380650.4_Silent_p.D108D	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	108										endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					GGGTACTATCGTCTTTGTCAA	0.353																																						ENST00000432584.3																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16								RNA polymerase II associated protein 3							104	104	104					12																	48091473		2203	4300	6503	SO:0001819	synonymous_variant	79657						binding	g.chr12:48091473G>A	AK025561	CCDS8753.1, CCDS53782.1, CCDS53783.1	12q13.11	2013-01-10				ENSG00000005175		"Tetratricopeptide (TTC) repeat domain containing"	26151	protein-coding gene	gene with protein product		611477				17643375	Standard	NM_024604		Approved	FLJ21908, spag	uc001rpr.3	Q9H6T3	OTTHUMG00000169668	ENST00000005386.3:c.324C>T	12.37:g.48091473G>A						RPAP3_ENST00000380650.4_Silent_p.D108D|RPAP3_ENST00000005386.3_Silent_p.D108D		NM_001146076.1	NP_001139548.1	Q9H6T3	RPAP3_HUMAN			0	245	-	Lung SC(27;0.192)							B4DRW9|Q6PHR5	Translation_Start_Site	SNP	ENST00000005386.3	37		CCDS8753.1																																																																																				0.353	RPAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405340.1	NM_024604		8	99	0	0	0	0.335167	0	8	99					A	48091473	G	A	48091473	2	1	201	1	0	0	0	0	0	0	0	1	13543	1136	40	1		1	RPAP3	12	48091473	Silent	SNP	G	TCGA-EL-A3CW-01A-11D-A19J-08	21519433	48091473	85760422	7	4261											
C19orf44	84167	broad.mit.edu	37	chr19	16614022	16614022	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagactacccacagagtcaCgtttccagtgacaccgcctc	8	16	1	3	rs138964724	byFrequency	TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr19:16614022C>T	ENST00000221671.3	+	3	1062	c.906C>T	c.(904-906)caC>caT	p.H302H	C19orf44_ENST00000594035.1_Silent_p.H302H|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	302										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						CACAGAGTCACGTTTCCAGTG	0.547													C|||	5	0.000998403	0.0038	0	5008	,	,		17196	0		0	False		,,,				2504	0					ENST00000221671.3																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						c.(904-906)caC>caT		chromosome 19 open reading frame 44		C		14,4392	22.3+/-47.3	0,14,2189	111	103	106		906	-1.5	0.0	19	dbSNP_134	106	0,8600	1.2+/-3.3	0,0,4300	no	coding-synonymous	C19orf44	NM_032207.2		0,14,6489	TT,TC,CC		0.0,0.3177,0.1076		302/658	16614022	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	84167							g.chr19:16614022C>T	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.906C>T	19.37:g.16614022C>T						CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Silent_p.H302H	p.H302H	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN			3	1062	+			302					Q8N6Y7	Silent	SNP	ENST00000221671.3	37	c.906C>T	CCDS12345.1																																																																																				0.547	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		6	90	0	0	0	0.217242	0	6	90					T	16614022	C	T	16614022	2	4	201	1	0	0	0	0	0	0	0	1	1927	535	19	1		1	C19orf44	19	16614022	Silent	SNP	C	TCGA-EL-A3CW-01A-11D-A19J-08		16614022	42514961	8	4262											
C22orf40	150383	broad.mit.edu	37	chr22	46643010	46643010	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgctgcttacccaccggGcccacacacaccagcctgct	7	21	0	0			TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr22:46643010G>A	ENST00000314567.3	-	3	645	c.222C>T	c.(220-222)ggC>ggT	p.G74G	CDPF1_ENST00000475605.1_Intron|CDPF1_ENST00000404744.1_Silent_p.G74G|CDPF1_ENST00000404583.1_Intron	NM_207327.4	NP_997210.3	Q6NVV7	CDPF1_HUMAN	cysteine-rich, DPF motif domain containing 1	74																	TACCCACCGGGCCCACACACA	0.617																																						ENST00000314567.3																			0											c.(220-222)ggC>ggT		cysteine-rich, DPF motif domain containing 1							66	57	60					22																	46643010		2203	4300	6503	SO:0001819	synonymous_variant	150383							g.chr22:46643010G>A		CCDS33670.1	22q13.31	2012-07-18	2012-07-18	2012-07-18	ENSG00000205643	ENSG00000205643			33710	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 40"	C22orf40			Standard	NM_207327		Approved	LOC150383	uc003bhe.3	Q6NVV7	OTTHUMG00000030672	ENST00000314567.3:c.222C>T	22.37:g.46643010G>A						CDPF1_ENST00000475605.1_Intron|CDPF1_ENST00000404744.1_Silent_p.G74G|CDPF1_ENST00000404583.1_Intron	p.G74G	NM_207327.4	NP_997210.3					3	645	-								A6NCA1|A9IU12|A9IU16|Q3ZCR8	Silent	SNP	ENST00000314567.3	37	c.222C>T	CCDS33670.1																																																																																				0.617	CDPF1-001	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075560.4	NM_207327		3	21	0	0	0	0.115264	0	3	21					A	46643010	G	A	46643010	2	1	201	1	0	0	0	0	0	0	0	1	2148	1190	42	2		2	C22orf40	22	46643010	Silent	SNP	G	TCGA-EL-A3CW-01A-11D-A19J-08		46643010	4661556	9	4263											
OR5H14	403273	broad.mit.edu	37	chr3	97868995	97868995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttatactatgggcccctcGccttcatgtatatgggctct	8	12	2	0	rs148799830	byFrequency	TCGA-EL-A3CX-01A-11D-A19J-08	TCGA-EL-A3CX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a33fd2-085c-488b-b843-2ca97c85a5cb	180bbc51-bde0-4489-ad9d-ec66b632839b	g.chr3:97868995G>A	ENST00000437310.1	+	1	826	c.766G>A	c.(766-768)Gcc>Acc	p.A256T	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	256						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(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGGGCCCCTCGCCTTCATGTA	0.413													G|||	2	0.000399361	0	0	5008	,	,		17365	0		0	False		,,,				2504	0.002					ENST00000437310.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(766-768)Gcc>Acc		olfactory receptor, family 5, subfamily H, member 14		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	55	50	52		766	-2.3	0.0	3	dbSNP_134	52	1,8595	1.2+/-3.3	0,1,4297	no	missense	OR5H14	NM_001005514.1	58	0,2,6499	AA,AG,GG		0.0116,0.0227,0.0154	benign	256/311	97868995	2,13000	2203	4298	6501	SO:0001583	missense	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868995G>A		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"GPCR / Class A : Olfactory receptors"	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.766G>A	3.37:g.97868995G>A	ENSP00000401706:p.Ala256Thr						p.A256T	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN			1	826	+			256					B9EH15	Missense_Mutation	SNP	ENST00000437310.1	37	c.766G>A	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	G	3.325	-0.137822	0.06711	2.27E-4	1.16E-4	ENSG00000236032	ENST00000437310	T	0.37058	1.22	2.49	-2.35	0.06684	GPCR, rhodopsin-like superfamily (1);	0.550026	0.15214	N	0.274324	T	0.12944	0.0314	N	0.05158	-0.105	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.10989	-1.0606	10	0.52906	T	0.07	.	1.1048	0.01691	0.1767:0.4022:0.183:0.2381	.	256	A6NHG9	O5H14_HUMAN	T	256	ENSP00000401706:A256T	ENSP00000401706:A256T	A	+	1	0	OR5H14	99351685	0.000000	0.05858	0.010000	0.14722	0.042000	0.13812	-1.146000	0.03191	-0.488000	0.06726	0.195000	0.17529	GCC		0.413	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			20	34	0	0	0	1	0	20	34					A	97868995	G	A	97868995	3	1	202	1	0	0	0	0	1	0	0	0	11160	1087	38	1	768	1	OR5H14	3	97868995	Missense_Mutation	SNP	G	TCGA-EL-A3CX-01A-11D-A19J-08		97868995	100153435	1	4264											
OR5K4	403278	broad.mit.edu	37	chr3	98073450	98073450	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctctctgtctcaatattTtacatttgtcttctcatgta	3	9	5	0			TCGA-EL-A3CX-01A-11D-A19J-08	TCGA-EL-A3CX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a33fd2-085c-488b-b843-2ca97c85a5cb	180bbc51-bde0-4489-ad9d-ec66b632839b	g.chr3:98073450T>C	ENST00000354924.2	+	1	753	c.753T>C	c.(751-753)ttT>ttC	p.F251F	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	251						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)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						TCTCAATATTTTACATTTGTC	0.363																																						ENST00000354924.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						c.(751-753)ttT>ttC		olfactory receptor, family 5, subfamily K, member 4							113	107	109					3																	98073450		2203	4300	6503	SO:0001819	synonymous_variant	403278				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98073450T>C		CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"GPCR / Class A : Olfactory receptors"	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.753T>C	3.37:g.98073450T>C						RP11-325B23.2_ENST00000508616.1_lincRNA	p.F251F	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN			1	753	+			251						Silent	SNP	ENST00000354924.2	37	c.753T>C	CCDS33802.1																																																																																				0.363	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359114.1			67	62	0	0	0	1	0	67	62					C	98073450	T	C	98073450	2	2	202	1	0	0	0	0	0	0	0	1	11169	1838	64	3		3	OR5K4	3	98073450	Silent	SNP	T	TCGA-EL-A3CX-01A-11D-A19J-08	204455	98073450	99948980	2	4265											
TMCC1	23023	broad.mit.edu	37	chr3	129389482	129389482	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcactcccaaagccttccccGcatcatccacttgcccttcc	3	21	2	0	rs376957018		TCGA-EL-A3CX-01A-11D-A19J-08	TCGA-EL-A3CX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a33fd2-085c-488b-b843-2ca97c85a5cb	180bbc51-bde0-4489-ad9d-ec66b632839b	g.chr3:129389482G>C	ENST00000393238.3	-	4	1542	c.1202C>G	c.(1201-1203)gCg>gGg	p.A401G	TMCC1_ENST00000432054.2_Missense_Mutation_p.A77G|TMCC1_ENST00000426664.2_Missense_Mutation_p.A287G|TMCC1_ENST00000329333.5_Missense_Mutation_p.A222G	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	401						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						AGCCTTCCCCGCATCATCCAC	0.483																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(1201-1203)gCg>gGg		transmembrane and coiled-coil domain family 1							89	86	87					3																	129389482		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129389482G>C	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"Transmembrane and coiled-coil domain containing"	29116	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 1"			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1202C>G	3.37:g.129389482G>C	ENSP00000376930:p.Ala401Gly					TMCC1_ENST00000432054.2_Missense_Mutation_p.A77G|TMCC1_ENST00000426664.2_Missense_Mutation_p.A287G|TMCC1_ENST00000329333.5_Missense_Mutation_p.A222G	p.A401G	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			4	1542	-			401					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.1202C>G	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	G	0.152	-1.089890	0.01873	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.21	-1.62	0.08372	.	0.393117	0.30437	N	0.009635	T	0.22975	0.0555	N	0.05306	-0.075	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.06534	-1.0821	10	0.18276	T	0.48	-22.9697	21.6548	0.99958	0.0:0.3261:0.6739:0.0	.	222;401	B4DE04;O94876	.;TMCC1_HUMAN	G	77;401;287;222	ENSP00000404711:A77G;ENSP00000376930:A401G;ENSP00000389892:A287G;ENSP00000327349:A222G	ENSP00000327349:A222G	A	-	2	0	TMCC1	130872172	0.001000	0.12720	0.014000	0.15608	0.685000	0.39939	-0.234000	0.09028	-0.591000	0.05859	-0.340000	0.08031	GCG		0.483	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		35	48	0	0	0	1	0	35	48					C	129389482	G	C	129389482	3	2	202	1	0	0	0	0	1	0	0	0	15989	1087	38	4	771	4	TMCC1	3	129389482	Missense_Mutation	SNP	G	TCGA-EL-A3CX-01A-11D-A19J-08	31316032	129389482	68632948	3	4266											
MMRN1	22915	broad.mit.edu	37	chr4	90857420	90857421	+	Frame_Shift_Del	DEL	AG	AG	-													aattttgagactcggttgcaAgacattgagtctaaagttac							TCGA-EL-A3CX-01A-11D-A19J-08	TCGA-EL-A3CX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a33fd2-085c-488b-b843-2ca97c85a5cb	180bbc51-bde0-4489-ad9d-ec66b632839b	g.chr4:90857420_90857421delAG	ENST00000394980.1	+	7	2908_2909	c.2589_2590delAG	c.(2587-2592)caagacfs	p.D864fs	MMRN1_ENST00000508372.1_Frame_Shift_Del_p.D606fs|MMRN1_ENST00000264790.2_Frame_Shift_Del_p.D864fs|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	864					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CTCGGTTGCAAGACATTGAGTC	0.366																																						ENST00000394980.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(2587-2592)caacfs		multimerin 1																																				SO:0001589	frameshift_variant	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90857420_90857421delAG	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"EMI domain containing"	7178	protein-coding gene	gene with protein product	"glycoprotein Ia*"	601456	"multimerin"	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2589_2590delAG	4.37:g.90857420_90857421delAG	ENSP00000378431:p.Asp864fs					MMRN1_ENST00000508372.1_Frame_Shift_Del_p.QD605fs|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Frame_Shift_Del_p.QD863fs	p.QD863fs			Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	7	2908_2909	+		Hepatocellular(203;0.114)	863					Q4W5L1|Q6P3T8|Q6ZUL9	Frame_Shift_Del	DEL	ENST00000394980.1	37	c.2589_2590delAG	CCDS3635.1																																																																																				0.366	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		8	12						8	12	---	---	---	---	-	90857421	AG	-	90857420	7	5	202	1	0	1	0	1	0	0	0	0	9670	69	3	0	2611	0	MMRN1	4	90857420	Frame_Shift_Del	DEL	AG	TCGA-EL-A3CX-01A-11D-A19J-08		90857420	100296856	4	4267											
ADAMTS16	170690	broad.mit.edu	37	chr5	5140871	5140871	+	Frame_Shift_Del	DEL	A	A	-													ggagcggccgggctggatggAaaagggcggtaagtccgtga							TCGA-EL-A3CX-01A-11D-A19J-08	TCGA-EL-A3CX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a33fd2-085c-488b-b843-2ca97c85a5cb	180bbc51-bde0-4489-ad9d-ec66b632839b	g.chr5:5140871delA	ENST00000274181.7	+	2	305	c.167delA	c.(166-168)gaafs	p.E56fs	CTD-2297D10.2_ENST00000512155.1_RNA|CTD-2297D10.1_ENST00000514848.1_RNA|ADAMTS16_ENST00000511368.1_Frame_Shift_Del_p.E56fs	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	56					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						GGCTGGATGGAAAAGGGCGGT	0.652																																						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.(166-168)gafs		ADAM metallopeptidase with thrombospondin type 1 motif, 16							6	9	8					5																	5140871		1857	4069	5926	SO:0001589	frameshift_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5140871delA	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.167delA	5.37:g.5140871delA	ENSP00000274181:p.Glu56fs					ADAMTS16_ENST00000511368.1_Frame_Shift_Del_p.E56fs	p.E56fs	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			2	305	+			56					C6G490|Q8IVE2	Frame_Shift_Del	DEL	ENST00000274181.7	37	c.167delA	CCDS43299.1																																																																																				0.652	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		2	4						2	4	---	---	---	---	-	5140871	A	-	5140871	7	5	202	1	0	1	0	1	0	0	0	0	261	246	9	0	173	0	ADAMTS16	5	5140871	Frame_Shift_Del	DEL	A	TCGA-EL-A3CX-01A-11D-A19J-08		5140871	175774389	5	4268											
APC	324	broad.mit.edu	37	chr5	112116592	112116592	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgccaggatatggaaaaaCgagcacaggtaagttacttg	11	8	0	0	rs587781392		TCGA-EL-A3CX-01A-11D-A19J-08	TCGA-EL-A3CX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a33fd2-085c-488b-b843-2ca97c85a5cb	180bbc51-bde0-4489-ad9d-ec66b632839b	g.chr5:112116592C>T	ENST00000457016.1	+	6	1017	c.637C>T	c.(637-639)Cga>Tga	p.R213*	RNU6-482P_ENST00000391068.1_RNA|APC_ENST00000257430.4_Nonsense_Mutation_p.R213*|APC_ENST00000508376.2_Nonsense_Mutation_p.R213*			P25054	APC_HUMAN	adenomatous polyposis coli	213	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)	p.R213*(20)		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)		TATGGAAAAACGAGCACAGGT	0.348		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"		20	Substitution - Nonsense(20)	p.R213*(20)	large_intestine(19)|lung(1)	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	GRCh37	CM920027	APC	M		c.(637-639)Cga>Tga		adenomatous polyposis coli							58	57	58					5																	112116592		2202	4300	6502	SO:0001587	stop_gained	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.chr5:112116592C>T	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.637C>T	5.37:g.112116592C>T	ENSP00000413133:p.Arg213*	TSP Lung(16;0.13)				APC_ENST00000257430.4_Nonsense_Mutation_p.R213*|APC_ENST00000508376.2_Nonsense_Mutation_p.R213*	p.R213*			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)	6	1017	+		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)	213			Leu-rich.		D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	c.637C>T	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	37	6.046788	0.97231	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.56	3.74	0.42951	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.0079	14.2561	0.66053	0.4075:0.5925:0.0:0.0	.	.	.	.	X	213;223;213;213;213	.	ENSP00000257430:R213X	R	+	1	2	APC	112144491	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.672000	0.46850	0.659000	0.30945	0.655000	0.94253	CGA		0.348	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		16	1	0	0	0	1	0	16	1					T	112116592	C	T	112116592	4	4	202	1	0	0	0	0	0	1	0	0	763	528	19	1	655	1	APC	5	112116592	Nonsense_Mutation	SNP	C	TCGA-EL-A3CX-01A-11D-A19J-08	106975721	112116592	68798668	6	4269											
FLNC	2318	broad.mit.edu	37	chr7	128470999	128470999	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gctggagaacgtgtccgtggCcctcgagttcctcgagcgcg	15	13	0	1			TCGA-EL-A3CX-01A-11D-A19J-08	TCGA-EL-A3CX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a33fd2-085c-488b-b843-2ca97c85a5cb	180bbc51-bde0-4489-ad9d-ec66b632839b	g.chr7:128470999C>G	ENST00000325888.8	+	1	569	c.308C>G	c.(307-309)gCc>gGc	p.A103G	FLNC_ENST00000346177.6_Missense_Mutation_p.A103G	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	103	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTGTCCGTGGCCCTCGAGTTC	0.652																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(307-309)gCc>gGc		filamin C, gamma							53	55	54					7																	128470999		2203	4300	6503	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128470999C>G	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.308C>G	7.37:g.128470999C>G	ENSP00000327145:p.Ala103Gly					FLNC_ENST00000346177.6_Missense_Mutation_p.A103G	p.A103G	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			1	569	+			103			Actin-binding.|CH 1.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.308C>G	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	34	5.338996	0.95783	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.64618	-0.11;-0.11	4.49	3.61	0.41365	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	T	0.77398	0.4124	M	0.89658	3.05	0.52099	D	0.999948	B;P	0.40144	0.321;0.704	B;P	0.52454	0.151;0.699	T	0.80381	-0.1406	10	0.87932	D	0	.	11.0523	0.47898	0.0:0.9074:0.0:0.0926	.	103;103	Q14315-2;Q14315	.;FLNC_HUMAN	G	103	ENSP00000327145:A103G;ENSP00000344002:A103G	ENSP00000327145:A103G	A	+	2	0	FLNC	128258235	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.772000	0.85439	1.009000	0.39289	0.561000	0.74099	GCC		0.652	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			16	25	0	0	0	1	0	16	25					G	128470999	C	G	128470999	3	3	202	1	0	0	0	0	1	0	0	0	5935	739	26	4	310	4	FLNC	7	128470999	Missense_Mutation	SNP	C	TCGA-EL-A3CX-01A-11D-A19J-08		128470999	30667664	7	4270											
TIGD5	84948	broad.mit.edu	37	chr8	144681130	144681130	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagctgcctgcagcagaagGccgtgctgctggtggcccac	15	13	0	1			TCGA-EL-A3CX-01A-11D-A19J-08	TCGA-EL-A3CX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a33fd2-085c-488b-b843-2ca97c85a5cb	180bbc51-bde0-4489-ad9d-ec66b632839b	g.chr8:144681130G>T	ENST00000504548.2	+	1	1057	c.1057G>T	c.(1057-1059)Gcc>Tcc	p.A353S	EEF1D_ENST00000395119.3_5'Flank|EEF1D_ENST00000317198.6_5'Flank|EEF1D_ENST00000531770.1_5'Flank|EEF1D_ENST00000524624.1_5'Flank|EEF1D_ENST00000531621.1_5'Flank|EEF1D_ENST00000532400.1_5'Flank|EEF1D_ENST00000419152.2_5'Flank|EEF1D_ENST00000442189.2_5'Flank|EEF1D_ENST00000529272.1_5'Flank|EEF1D_ENST00000528610.1_5'Flank|EEF1D_ENST00000526838.1_5'Flank|RP11-661A12.14_ENST00000606452.1_lincRNA|EEF1D_ENST00000423316.2_5'Flank|TIGD5_ENST00000321385.3_Missense_Mutation_p.A304S	NM_032862.4	NP_116251.4	Q53EQ6	TIGD5_HUMAN	tigger transposable element derived 5	353	DDE 1.					nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GCAGCAGAAGGCCGTGCTGCT	0.701																																						ENST00000321385.3																			0				NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7						c.(910-912)Gcc>Tcc		tigger transposable element derived 5							5	7	6					8																	144681130		2054	4136	6190	SO:0001583	missense	84948				regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding	g.chr8:144681130G>T	AK027832	CCDS6406.1, CCDS6406.2	8q24.3	2008-02-01				ENSG00000179886			18336	protein-coding gene	gene with protein product							Standard	NM_032862		Approved	FLJ14926	uc003yyx.2	Q53EQ6		ENST00000504548.2:c.1057G>T	8.37:g.144681130G>T	ENSP00000421489:p.Ala353Ser					TIGD5_ENST00000504548.2_Missense_Mutation_p.A353S	p.A304S			E7EWS2	E7EWS2_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		1	1057	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		353					E7EWS2|Q6NT83|Q8N5A1|Q96JW8	Missense_Mutation	SNP	ENST00000504548.2	37	c.910G>T	CCDS6406.2	.	.	.	.	.	.	.	.	.	.	G	20.5	4.004859	0.74932	.	.	ENSG00000179886	ENST00000504548;ENST00000321385	T;T	0.44083	0.93;0.93	4.61	4.61	0.57282	.	0.000000	0.56097	U	0.000033	T	0.62660	0.2446	M	0.70595	2.14	0.33725	D	0.617439	D	0.76494	0.999	D	0.85130	0.997	T	0.70454	-0.4867	10	0.28530	T	0.3	.	16.4398	0.83896	0.0:0.0:1.0:0.0	.	304	Q53EQ6	TIGD5_HUMAN	S	353;304	ENSP00000421489:A353S;ENSP00000315906:A304S	ENSP00000315906:A304S	A	+	1	0	TIGD5	144752273	1.000000	0.71417	0.988000	0.46212	0.777000	0.43975	4.049000	0.57397	2.103000	0.63969	0.561000	0.74099	GCC		0.701	TIGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368269.1	NM_032862		3	0	1	0	0.115264	1	0.115264	3	0					T	144681130	G	T	144681130	3	4	202	1	0	0	0	0	1	0	0	0	15896	1203	42	4	1059	4	TIGD5	8	144681130	Missense_Mutation	SNP	G	TCGA-EL-A3CX-01A-11D-A19J-08		144681130	1682892	8	4271											
COL5A1	1289	broad.mit.edu	37	chr9	137642703	137642703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagcccaggagtcccaggCgcaagccattctccagcagg	11	16	2	0	rs557361751		TCGA-EL-A3CX-01A-11D-A19J-08	TCGA-EL-A3CX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a33fd2-085c-488b-b843-2ca97c85a5cb	180bbc51-bde0-4489-ad9d-ec66b632839b	g.chr9:137642703C>T	ENST00000371817.3	+	13	2051	c.1637C>T	c.(1636-1638)gCg>gTg	p.A546V		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	546	Interrupted collagenous region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GAGTCCCAGGCGCAAGCCATT	0.637													C|||	1	0.000199681	8e-04	0	5008	,	,		15722	0		0	False		,,,				2504	0					ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(1636-1638)gCg>gTg		collagen, type V, alpha 1							29	29	29					9																	137642703		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137642703C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1637C>T	9.37:g.137642703C>T	ENSP00000360882:p.Ala546Val						p.A546V	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	13	2051	+		Myeloproliferative disorder(178;0.0341)	546			Interrupted collagenous region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.1637C>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.363819	0.82353	.	.	ENSG00000130635	ENST00000371817	D	0.90324	-2.65	4.67	4.67	0.58626	.	0.192509	0.44902	N	0.000416	D	0.95345	0.8489	M	0.83953	2.67	0.50813	D	0.999897	D	0.76494	0.999	D	0.73380	0.98	D	0.95831	0.8858	10	0.62326	D	0.03	.	16.7019	0.85351	0.0:1.0:0.0:0.0	.	546	P20908	CO5A1_HUMAN	V	546	ENSP00000360882:A546V	ENSP00000360882:A546V	A	+	2	0	COL5A1	136782524	0.972000	0.33761	0.875000	0.34327	0.979000	0.70002	2.414000	0.44627	2.293000	0.77203	0.655000	0.94253	GCG		0.637	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		3	37	0	0	0	1	0	3	37					T	137642703	C	T	137642703	3	4	202	1	0	0	0	0	1	0	0	0	3696	768	27	1	1687	1	COL5A1	9	137642703	Missense_Mutation	SNP	C	TCGA-EL-A3CX-01A-11D-A19J-08		137642703	3570728	9	4272											
FHOD3	80206	broad.mit.edu	37	chr18	34326989	34326989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggatcacctcaaggcaattGcaaaacatgaaatgaaacca	8	9	2	2			TCGA-EL-A3CX-01A-11D-A19J-08	TCGA-EL-A3CX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a33fd2-085c-488b-b843-2ca97c85a5cb	180bbc51-bde0-4489-ad9d-ec66b632839b	g.chr18:34326989G>A	ENST00000359247.4	+	20	3547	c.3547G>A	c.(3547-3549)Gca>Aca	p.A1183T	FHOD3_ENST00000591635.1_Missense_Mutation_p.A396T|FHOD3_ENST00000592128.1_Missense_Mutation_p.A179T|FHOD3_ENST00000257209.4_Missense_Mutation_p.A1200T|FHOD3_ENST00000590592.1_Missense_Mutation_p.A1375T|FHOD3_ENST00000445677.1_Missense_Mutation_p.A1162T	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1183	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CAAGGCAATTGCAAAACATGA	0.373																																						ENST00000257209.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(3598-3600)Gca>Aca		formin homology 2 domain containing 3							97	94	95					18																	34326989		2203	4300	6503	SO:0001583	missense	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34326989G>A	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.3547G>A	18.37:g.34326989G>A	ENSP00000352186:p.Ala1183Thr					FHOD3_ENST00000591635.1_Missense_Mutation_p.A396T|FHOD3_ENST00000590592.1_Missense_Mutation_p.A1375T|FHOD3_ENST00000445677.1_Missense_Mutation_p.A1162T|FHOD3_ENST00000592128.1_Missense_Mutation_p.A179T|FHOD3_ENST00000359247.4_Missense_Mutation_p.A1183T	p.A1200T	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			21	3720	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	1183			FH2.		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37	c.3598G>A		.	.	.	.	.	.	.	.	.	.	G	23.0	4.360261	0.82353	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.18174	2.23;2.23;2.23	5.67	4.77	0.60923	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.105405	0.64402	D	0.000005	T	0.30479	0.0766	M	0.62723	1.935	0.80722	D	1	B;P;P;B	0.49559	0.218;0.925;0.885;0.198	B;P;P;B	0.51324	0.196;0.536;0.666;0.234	T	0.04440	-1.0951	10	0.59425	D	0.04	.	15.1494	0.72684	0.0:0.1421:0.8579:0.0	.	404;1162;1183;1200	E7ETX5;Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;.;FHOD3_HUMAN;.	T	1200;1183;1162	ENSP00000257209:A1200T;ENSP00000352186:A1183T;ENSP00000411430:A1162T	ENSP00000257209:A1200T	A	+	1	0	FHOD3	32580987	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.928000	0.87587	1.360000	0.45960	0.462000	0.41574	GCA		0.373	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		33	28	0	0	0	1	0	33	28					A	34326989	G	A	34326989	3	1	202	1	0	0	0	0	1	0	0	0	5883	1319	46	2	3680	2	FHOD3	18	34326989	Missense_Mutation	SNP	G	TCGA-EL-A3CX-01A-11D-A19J-08		34326989	43750259	10	4273											
RALGAPA2	57186	broad.mit.edu	37	chr20	20506939	20506939	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtttcaaacatctgaagcTtctcccagtaggaaaccagc	8	11	3	1			TCGA-EL-A3CX-01A-11D-A19J-08	TCGA-EL-A3CX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a33fd2-085c-488b-b843-2ca97c85a5cb	180bbc51-bde0-4489-ad9d-ec66b632839b	g.chr20:20506939T>C	ENST00000202677.7	-	28	3657	c.3650A>G	c.(3649-3651)aAg>aGg	p.K1217R		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1217					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CATCTGAAGCTTCTCCCAGTA	0.408																																						ENST00000202677.6																			0				endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						c.(3649-3651)aAg>aGg		Ral GTPase activating protein, alpha subunit 2 (catalytic)							40	39	39					20																	20506939		1855	4110	5965	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20506939T>C	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 74"	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.3650A>G	20.37:g.20506939T>C	ENSP00000202677:p.Lys1217Arg						p.K1217R	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN			28	3792	-			1217					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.3650A>G	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.146|4.146	0.025395|0.025395	0.08054|0.08054	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000202677|ENST00000430436	T|.	0.29655|.	1.56|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	0.158282|.	0.52532|.	D|.	0.000062|.	T|T	0.38799|0.38799	0.1054|0.1054	N|N	0.17082|0.17082	0.46|0.46	0.31138|0.31138	N|N	0.706949|0.706949	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.001|.	T|T	0.41770|0.41770	-0.9490|-0.9490	10|5	0.05620|.	T|.	0.96|.	.|.	14.7032|14.7032	0.69168|0.69168	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1055;1217|.	A8MSM5;Q2PPJ7|.	.;RGPA2_HUMAN|.	R|G	1217|1034	ENSP00000202677:K1217R|.	ENSP00000202677:K1217R|.	K|S	-|-	2|1	0|0	RALGAPA2|RALGAPA2	20454939|20454939	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.796000|0.796000	0.44982|0.44982	5.267000|5.267000	0.65530|0.65530	2.203000|2.203000	0.70933|0.70933	0.459000|0.459000	0.35465|0.35465	AAG|AGC		0.408	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		3	15	0	0	0	1	0	3	15					C	20506939	T	C	20506939	3	2	202	1	0	0	0	0	1	0	0	0	13014	1609	56	3	2019	3	RALGAPA2	20	20506939	Missense_Mutation	SNP	T	TCGA-EL-A3CX-01A-11D-A19J-08		20506939	42518581	11	4274											
PISD	23761	broad.mit.edu	37	chr22	32019743	32019743	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggaggtagtagaggacgGtcaagggccaggagcgcagt	19	7	1	1			TCGA-EL-A3CX-01A-11D-A19J-08	TCGA-EL-A3CX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a33fd2-085c-488b-b843-2ca97c85a5cb	180bbc51-bde0-4489-ad9d-ec66b632839b	g.chr22:32019743G>A	ENST00000439502.2	-	4	545				PISD_ENST00000397500.1_Missense_Mutation_p.T49I|PISD_ENST00000336566.4_Intron|PISD_ENST00000478893.1_5'UTR|PISD_ENST00000382151.2_Missense_Mutation_p.T49I|PISD_ENST00000266095.5_Missense_Mutation_p.T49I			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase						glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatidylserine decarboxylase activity (GO:0004609)			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	GTAGAGGACGGTCAAGGGCCA	0.672																																						ENST00000382151.2																			0				central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12						c.(145-147)aCc>aTc		phosphatidylserine decarboxylase	Phosphatidylserine(DB00144)						106	85	92					22																	32019743		2203	4300	6503	SO:0001627	intron_variant	23761				phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity	g.chr22:32019743G>A		CCDS13899.1	22q12.2	2011-01-25			ENSG00000241878	ENSG00000241878	4.1.1.65		8999	protein-coding gene	gene with protein product		612770				10591208	Standard	NM_014338		Approved	dJ858B16.2, PSDC	uc003alk.2	Q9UG56	OTTHUMG00000030252	ENST00000439502.2:c.322-1872C>T	22.37:g.32019743G>A						PISD_ENST00000439502.2_Intron|PISD_ENST00000397500.1_Missense_Mutation_p.T49I|PISD_ENST00000336566.4_Intron|PISD_ENST00000478893.1_5'UTR|PISD_ENST00000266095.5_Missense_Mutation_p.T49I	p.T49I			Q9UG56	PISD_HUMAN			3	565	-			0					B1AKM7|O43207|O95535|Q6IC28|Q96GQ2|Q9UGA9	Missense_Mutation	SNP	ENST00000439502.2	37	c.146C>T		.	.	.	.	.	.	.	.	.	.	G	19.23	3.786977	0.70337	.	.	ENSG00000241878	ENST00000382151;ENST00000266095;ENST00000397500;ENST00000451635;ENST00000422020;ENST00000442379;ENST00000431201;ENST00000429683	.	.	.	5.61	4.6	0.57074	.	.	.	.	.	T	0.56790	0.2009	M	0.63843	1.955	0.43187	D	0.995015	B;P	0.37276	0.139;0.589	B;B	0.38378	0.039;0.272	T	0.60944	-0.7162	8	0.56958	D	0.05	.	13.5452	0.61699	0.0747:0.0:0.9253:0.0	.	49;49	B1AKM6;Q9UG56-2	.;.	I	49	.	ENSP00000266095:T49I	T	-	2	0	PISD	30349743	1.000000	0.71417	0.881000	0.34555	0.988000	0.76386	6.289000	0.72696	1.370000	0.46153	0.591000	0.81541	ACC		0.672	PISD-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000075106.4			3	40	0	0	0	1	0	3	40					A	32019743	G	A	32019743	1	1	202	0	1	0	0	0	0	0	0	0	11946	1261	44	2		2	PISD	22	32019743	Intron	SNP	G	TCGA-EL-A3CX-01A-11D-A19J-08		32019743	19284823	12	4275											
FAM198B	51313	broad.mit.edu	37	chr4	159091487	159091489	+	Intron	DEL	GCT	GCT	-													ccaagcgcatggaaagacacGctgctgctgctgctgtccaa					rs370831945		TCGA-EL-A3CY-01A-11D-A19J-08	TCGA-EL-A3CY-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aedde6d-6dae-43be-a849-e10ae19350f8	9f6ea3d3-c570-4a1a-806f-4ce2d3304f72	g.chr4:159091487_159091489delGCT	ENST00000296530.8	-	2	1532				RP11-597D13.9_ENST00000505532.1_RNA|RP11-597D13.9_ENST00000514381.1_RNA|FAM198B_ENST00000585682.1_Intron|RP11-597D13.9_ENST00000509463.1_RNA|FAM198B_ENST00000592057.1_3'UTR|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000393807.5_In_Frame_Del_p.307_308AA>A|FAM198B_ENST00000589306.1_Intron	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						GGAAAGACACGCTGCTGCTGCTG	0.458																																						ENST00000393807.5																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						c.(919-924)gcg>gc		family with sequence similarity 198, member B																																				SO:0001627	intron_variant	51313					Golgi membrane|integral to membrane		g.chr4:159091487_159091489delGCT		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+128AGC>-	4.37:g.159091496_159091498delGCT						FAM198B_ENST00000585682.1_Intron|FAM198B_ENST00000592057.1_3'UTR|FAM198B_ENST00000296530.8_Intron|FAM198B_ENST00000589306.1_Intron	p.AA307del	NM_001031700.2	NP_001026870.2	Q6UWH4	F198B_HUMAN			3	1327_1329	-			307					Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	In_Frame_Del	DEL	ENST00000296530.8	37	c.921_923delAGC	CCDS3798.1																																																																																				0.458	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613		7	41						7	41	---	---	---	---	-	159091489	GCT	-	159091487	6	5	203	0	1	1	0	1	0	0	0	0	5529	1087	38	0		0	FAM198B	4	159091487	Intron	DEL	GCT	TCGA-EL-A3CY-01A-11D-A19J-08		159091487	32062789	1	4276											
OBP2B	29989	broad.mit.edu	37	chr9	136081795	136081795	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcccggttggtatcagAattcctacctgcaggtgagg	13	11	1	2	rs1132279	byFrequency	TCGA-EL-A3CY-01A-11D-A19J-08	TCGA-EL-A3CY-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aedde6d-6dae-43be-a849-e10ae19350f8	9f6ea3d3-c570-4a1a-806f-4ce2d3304f72	g.chr9:136081795A>G	ENST00000372034.3	-	5	438	c.397T>C	c.(397-399)Tct>Cct	p.S133P	OBP2B_ENST00000372032.2_3'UTR|OBP2B_ENST00000461961.1_5'UTR	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	133					chemosensory behavior (GO:0007635)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)	p.S133P(2)		central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		TTGGTATCAGAATTCCTACCT	0.612													A|||	2	0.000399361	8e-04	0	5008	,	,		15717	0.001		0	False		,,,				2504	0					ENST00000372034.3																			2	Substitution - Missense(2)	p.S133P(2)	lung(1)|central_nervous_system(1)	central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7						c.(397-399)Tct>Cct		odorant binding protein 2B							79	74	76					9																	136081795		2203	4300	6503	SO:0001583	missense	29989				chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity	g.chr9:136081795A>G	AJ251026	CCDS6961.1	9q34	2014-01-22			ENSG00000171102	ENSG00000171102		"Lipocalins"	23381	protein-coding gene	gene with protein product		604606					Standard	NM_001288987		Approved	hOBPIIb, LCN14	uc004ccz.3	Q9NPH6	OTTHUMG00000020860	ENST00000372034.3:c.397T>C	9.37:g.136081795A>G	ENSP00000361104:p.Ser133Pro					OBP2B_ENST00000461961.1_5'UTR|OBP2B_ENST00000372032.2_3'UTR	p.S133P	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)	5	438	-			133					Q5VSP6|Q9NY51|Q9NY52	Missense_Mutation	SNP	ENST00000372034.3	37	c.397T>C	CCDS6961.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.130056	0.00338	.	.	ENSG00000171102	ENST00000372034	T	0.05855	3.38	2.38	-0.713	0.11223	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.411595	0.17841	N	0.160204	T	0.01029	0.0034	N	0.00215	-1.835	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44452	-0.9327	10	0.02654	T	1	-11.4445	5.2433	0.15483	0.4751:0.0:0.5249:0.0	rs1132279;rs3192931	133	Q9NPH6	OBP2B_HUMAN	P	133	ENSP00000361104:S133P	ENSP00000361104:S133P	S	-	1	0	OBP2B	135071616	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.006000	0.13152	-0.185000	0.10550	-1.067000	0.02272	TCT		0.612	OBP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054851.1	NM_014581		3	43	0	0	0	0.009096	0	3	43					G	136081795	A	G	136081795	3	3	203	1	0	0	0	0	1	0	0	0	10811	246	9	3	123	3	OBP2B	9	136081795	Missense_Mutation	SNP	A	TCGA-EL-A3CY-01A-11D-A19J-08		136081795	5131636	2	4277											
FNBP4	23360	broad.mit.edu	37	chr11	47744665	47744665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacctcgggcctgaactgGctgcaatgagggagcagtca	14	11	1	2			TCGA-EL-A3CY-01A-11D-A19J-08	TCGA-EL-A3CY-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aedde6d-6dae-43be-a849-e10ae19350f8	9f6ea3d3-c570-4a1a-806f-4ce2d3304f72	g.chr11:47744665G>A	ENST00000263773.5	-	15	2680	c.2668C>T	c.(2668-2670)Cca>Tca	p.P890S		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	890						nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GCCTGAACTGGCTGCAATGAG	0.547																																						ENST00000263773.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						c.(2668-2670)Cca>Tca		formin binding protein 4							55	59	58					11																	47744665		2080	4202	6282	SO:0001583	missense	23360							g.chr11:47744665G>A	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.2668C>T	11.37:g.47744665G>A	ENSP00000263773:p.Pro890Ser						p.P890S	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN			15	2680	-			890					Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	ENST00000263773.5	37	c.2668C>T	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	G	8.704	0.910392	0.17833	.	.	ENSG00000109920	ENST00000263773	T	0.34072	1.38	5.21	0.0523	0.14301	.	0.342816	0.30742	N	0.008965	T	0.21718	0.0523	L	0.27053	0.805	0.42227	D	0.991874	B	0.14438	0.01	B	0.14023	0.01	T	0.05468	-1.0883	10	0.33940	T	0.23	-2.5454	8.9822	0.35972	0.4617:0.0:0.5383:0.0	.	890	Q8N3X1	FNBP4_HUMAN	S	890	ENSP00000263773:P890S	ENSP00000263773:P890S	P	-	1	0	FNBP4	47701241	1.000000	0.71417	0.918000	0.36340	0.525000	0.34531	1.511000	0.35801	-0.013000	0.14199	0.555000	0.69702	CCA		0.547	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			3	39	0	0	0	0.004672	0	3	39					A	47744665	G	A	47744665	3	1	203	1	0	0	0	0	1	0	0	0	5967	1203	42	2	397	2	FNBP4	11	47744665	Missense_Mutation	SNP	G	TCGA-EL-A3CY-01A-11D-A19J-08		47744665	87261851	3	4278											
SEC23A	10484	broad.mit.edu	37	chr14	39560843	39560843	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gacatctgcatggattctttCagggcttgtaaatcttcatc	8	9	5	0			TCGA-EL-A3CY-01A-11D-A19J-08	TCGA-EL-A3CY-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aedde6d-6dae-43be-a849-e10ae19350f8	9f6ea3d3-c570-4a1a-806f-4ce2d3304f72	g.chr14:39560843C>T	ENST00000307712.6	-	5	958	c.441G>A	c.(439-441)ctG>ctA	p.L147L	SEC23A_ENST00000545328.2_Silent_p.L118L|SEC23A_ENST00000536508.1_Silent_p.L21L|SEC23A_ENST00000537403.1_5'Flank	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	147					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)			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)		TGGATTCTTTCAGGGCTTGTA	0.383																																						ENST00000307712.6																			0				kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(439-441)ctG>ctA		Sec23 homolog A (S. cerevisiae)							112	108	109					14																	39560843		2203	4300	6503	SO:0001819	synonymous_variant	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.chr14:39560843C>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.441G>A	14.37:g.39560843C>T						SEC23A_ENST00000545328.2_Silent_p.L118L|SEC23A_ENST00000536508.1_Silent_p.L21L	p.L147L	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)	5	958	-	Hepatocellular(127;0.213)		147					B2R5P4|B3KXI2|Q8NE16	Silent	SNP	ENST00000307712.6	37	c.441G>A	CCDS9668.1																																																																																				0.383	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276728.2			6	76	0	0	0	0.02938	0	6	76					T	39560843	C	T	39560843	2	4	203	1	0	0	0	0	0	0	0	1	13991	813	29	2		2	SEC23A	14	39560843	Silent	SNP	C	TCGA-EL-A3CY-01A-11D-A19J-08		39560843	67788697	4	4279											
INPP5K	51763	broad.mit.edu	37	chr17	1400056	1400056	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tccacggtccacaggtcctcGggcatcaggacgatcagcgg	13	14	2	0			TCGA-EL-A3CY-01A-11D-A19J-08	TCGA-EL-A3CY-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aedde6d-6dae-43be-a849-e10ae19350f8	9f6ea3d3-c570-4a1a-806f-4ce2d3304f72	g.chr17:1400056G>C	ENST00000421807.2	-	9	1393	c.1005C>G	c.(1003-1005)ccC>ccG	p.P335P	INPP5K_ENST00000406424.4_Silent_p.P259P|INPP5K_ENST00000542125.1_Silent_p.P239P|INPP5K_ENST00000397335.3_Silent_p.P243P|INPP5K_ENST00000320345.6_Silent_p.P259P	NM_016532.3	NP_057616.2	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K	335	Required for ruffle localization.				actin cytoskeleton organization (GO:0030036)|cellular response to cAMP (GO:0071320)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hormone stimulus (GO:0032870)|cellular response to insulin stimulus (GO:0032869)|cellular response to tumor necrosis factor (GO:0071356)|dephosphorylation (GO:0016311)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inositol phosphate dephosphorylation (GO:0046855)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of dephosphorylation (GO:0035305)|negative regulation of glucose transport (GO:0010829)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of renal water transport (GO:2001153)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|protein targeting to plasma membrane (GO:0072661)|regulation of glycogen biosynthetic process (GO:0005979)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	inositol bisphosphate phosphatase activity (GO:0016312)|inositol trisphosphate phosphatase activity (GO:0046030)|inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|lipid phosphatase activity (GO:0042577)|phosphatidylinositol phosphate 5-phosphatase activity (GO:0034595)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)|vasopressin receptor activity (GO:0005000)			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						ACAGGTCCTCGGGCATCAGGA	0.582																																						ENST00000406424.4																			0				endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						c.(775-777)ccC>ccG		inositol polyphosphate-5-phosphatase K							102	78	86					17																	1400056		2203	4300	6503	SO:0001819	synonymous_variant	51763				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding	g.chr17:1400056G>C		CCDS11004.1, CCDS11005.1	17p13.3	2008-09-09			ENSG00000132376	ENSG00000132376			33882	protein-coding gene	gene with protein product	"skeletal muscle and kidney enriched inositol phosphatase"	607875				10753883, 12536145	Standard	NM_016532		Approved	SKIP	uc002fsr.3	Q9BT40	OTTHUMG00000150648	ENST00000421807.2:c.1005C>G	17.37:g.1400056G>C						INPP5K_ENST00000320345.6_Silent_p.P259P|INPP5K_ENST00000397335.3_Silent_p.P243P|INPP5K_ENST00000421807.2_Silent_p.P335P|INPP5K_ENST00000542125.1_Silent_p.P239P	p.P259P	NM_001135642.1	NP_001129114.1	Q9BT40	INP5K_HUMAN			11	1637	-			335			Catalytic (Potential).		B2R6I2|B2R750|D3DTH8|Q15733|Q9NPJ5|Q9P2R5	Silent	SNP	ENST00000421807.2	37	c.777C>G	CCDS11004.1																																																																																				0.582	INPP5K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319381.4			3	43	0	0	0	0.004672	0	3	43					C	1400056	G	C	1400056	2	2	203	1	0	0	0	0	0	0	0	1	7760	1103	39	4		4	INPP5K	17	1400056	Silent	SNP	G	TCGA-EL-A3CY-01A-11D-A19J-08		1400056	79795154	5	4280											
HELZ	9931	broad.mit.edu	37	chr17	65186416	65186416	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccattctgctagttcttcctGggaatgtgctgaagtacact	9	10	2	1			TCGA-EL-A3CY-01A-11D-A19J-08	TCGA-EL-A3CY-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aedde6d-6dae-43be-a849-e10ae19350f8	9f6ea3d3-c570-4a1a-806f-4ce2d3304f72	g.chr17:65186416G>C	ENST00000358691.5	-	10	779	c.613C>G	c.(613-615)Cag>Gag	p.Q205E	HELZ_ENST00000580662.1_5'UTR|HELZ_ENST00000580168.1_Missense_Mutation_p.Q205E	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	205						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.Q205*(1)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGTTCTTCCTGGGAATGTGCT	0.378																																						ENST00000358691.5																			1	Substitution - Nonsense(1)	p.Q205*(1)	pancreas(1)	NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(613-615)Cag>Gag		helicase with zinc finger							143	128	132					17																	65186416		1866	4106	5972	SO:0001583	missense	9931							g.chr17:65186416G>C	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"Zinc fingers, CCCH-type domain containing"	16878	protein-coding gene	gene with protein product	"down-regulated in human cancers"	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.613C>G	17.37:g.65186416G>C	ENSP00000351524:p.Gln205Glu					HELZ_ENST00000580168.1_Missense_Mutation_p.Q205E|HELZ_ENST00000580662.1_5'UTR	p.Q205E	NM_014877.3	NP_055692.2					10	779	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.613C>G	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465522	0.43839	.	.	ENSG00000198265	ENST00000358691;ENST00000417253	T;T	0.41758	0.99;0.99	5.59	5.59	0.84812	Zinc finger, CCCH-type (3);	0.053945	0.85682	D	0.000000	T	0.31420	0.0796	N	0.16833	0.445	0.80722	D	1	B;B	0.22604	0.072;0.043	B;B	0.20577	0.023;0.03	T	0.05451	-1.0884	10	0.26408	T	0.33	-10.616	19.5907	0.95509	0.0:0.0:1.0:0.0	.	205;205	B7ZLW2;P42694	.;HELZ_HUMAN	E	205	ENSP00000351524:Q205E;ENSP00000411144:Q205E	ENSP00000351524:Q205E	Q	-	1	0	HELZ	62616878	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.462000	0.97649	2.640000	0.89533	0.655000	0.94253	CAG		0.378	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		3	44	0	0	0	0.004672	0	3	44					C	65186416	G	C	65186416	3	2	203	1	0	0	0	0	1	0	0	0	7049	1357	47	4	5311	4	HELZ	17	65186416	Missense_Mutation	SNP	G	TCGA-EL-A3CY-01A-11D-A19J-08	63786360	65186416	16008794	6	4281											
SHROOM2	357	broad.mit.edu	37	chrX	9914880	9914880	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtgaagatgaagtcggcccTcatcatcgagcagcgggagc	14	11	2	3			TCGA-EL-A3CY-01A-11D-A19J-08	TCGA-EL-A3CY-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aedde6d-6dae-43be-a849-e10ae19350f8	9f6ea3d3-c570-4a1a-806f-4ce2d3304f72	g.chrX:9914880T>C	ENST00000380913.3	+	10	4844	c.4754T>C	c.(4753-4755)cTc>cCc	p.L1585P	SHROOM2_ENST00000418909.2_Missense_Mutation_p.L420P	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1585	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				AAGTCGGCCCTCATCATCGAG	0.542																																						ENST00000380913.3																			0				breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57						c.(4753-4755)cTc>cCc		shroom family member 2							40	32	35					X																	9914880		2203	4298	6501	SO:0001583	missense	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9914880T>C	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"apical protein, Xenopus laevis-like", "apical protein-like (Xenopus laevis)"	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.4754T>C	X.37:g.9914880T>C	ENSP00000370299:p.Leu1585Pro					SHROOM2_ENST00000418909.2_Missense_Mutation_p.L420P	p.L1585P	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN			10	4844	+		Hepatocellular(5;0.000888)	1585			ASD2.		B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	c.4754T>C	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.994246	0.74703	.	.	ENSG00000146950	ENST00000380913;ENST00000418909	T;T	0.55052	0.54;0.54	4.69	4.69	0.59074	Apx/shroom, ASD2 (2);	0.000000	0.64402	D	0.000001	T	0.75932	0.3917	M	0.89214	3.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81459	-0.0923	10	0.87932	D	0	-37.527	13.7268	0.62763	0.0:0.0:0.0:1.0	.	419;1585	Q68DU3;Q13796	.;SHRM2_HUMAN	P	1585;420	ENSP00000370299:L1585P;ENSP00000415229:L420P	ENSP00000370299:L1585P	L	+	2	0	SHROOM2	9874880	1.000000	0.71417	0.976000	0.42696	0.834000	0.47266	7.125000	0.77193	1.685000	0.51034	0.481000	0.45027	CTC		0.542	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		2	9	0	0	0	0.004672	0	2	9					C	9914880	T	C	9914880	3	2	203	1	0	0	0	0	1	0	0	0	14294	1551	54	3	4792	3	SHROOM2	23	9914880	Missense_Mutation	SNP	T	TCGA-EL-A3CY-01A-11D-A19J-08		9914880	145355680	7	4282											
GNPAT	8443	broad.mit.edu	37	chr1	231411916	231411916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttaatgtgaatgaacctgCcacaaccaaattagaagaaa	6	7	0	4			TCGA-EL-A3CZ-01A-11D-A19J-08	TCGA-EL-A3CZ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c1a1a4-82e1-485a-afce-cafaed57945f	15fb2f33-0687-4679-b3b1-2244f979c0a7	g.chr1:231411916C>T	ENST00000366647.4	+	15	2142	c.1973C>T	c.(1972-1974)gCc>gTc	p.A658V	GNPAT_ENST00000366646.3_Missense_Mutation_p.A597V|GNPAT_ENST00000469332.1_3'UTR	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	658					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				AATGAACCTGCCACAACCAAA	0.274																																						ENST00000366647.4																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23						c.(1972-1974)gCc>gTc		glyceronephosphate O-acyltransferase							23	26	25					1																	231411916		2193	4292	6485	SO:0001583	missense	8443				ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity	g.chr1:231411916C>T	AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.1973C>T	1.37:g.231411916C>T	ENSP00000355607:p.Ala658Val					GNPAT_ENST00000366646.3_Missense_Mutation_p.A597V|GNPAT_ENST00000469332.1_3'UTR	p.A658V	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN			15	2142	+	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)	658					B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	ENST00000366647.4	37	c.1973C>T	CCDS1592.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.542036	0.65198	.	.	ENSG00000116906	ENST00000366647;ENST00000366646	T;T	0.67698	-0.28;-0.23	4.98	4.98	0.66077	.	0.448742	0.24564	N	0.037441	T	0.63896	0.2550	L	0.59436	1.845	0.44254	D	0.9971	P;B	0.46621	0.881;0.245	B;B	0.40940	0.344;0.052	T	0.65442	-0.6167	10	0.34782	T	0.22	.	16.2152	0.82206	0.0:1.0:0.0:0.0	.	597;658	B4DNM9;O15228	.;GNPAT_HUMAN	V	658;597	ENSP00000355607:A658V;ENSP00000355606:A597V	ENSP00000355606:A597V	A	+	2	0	GNPAT	229478539	0.993000	0.37304	0.954000	0.39281	0.961000	0.63080	4.041000	0.57339	2.596000	0.87737	0.563000	0.77884	GCC		0.274	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1			4	17	0	0	0	0.009096	0	4	17					T	231411916	C	T	231411916	3	4	204	1	0	0	0	0	1	0	0	0	6541	739	26	2	2031	2	GNPAT	1	231411916	Missense_Mutation	SNP	C	TCGA-EL-A3CZ-01A-11D-A19J-08		231411916	17838705	1	4283											
RAPH1	65059	broad.mit.edu	37	chr2	204304820	204304821	+	Frame_Shift_Ins	INS	-	-	T													gaaggttgactccagaaagaINSttgagttttccaggcttggg							TCGA-EL-A3CZ-01A-11D-A19J-08	TCGA-EL-A3CZ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c1a1a4-82e1-485a-afce-cafaed57945f	15fb2f33-0687-4679-b3b1-2244f979c0a7	g.chr2:204304820_204304821insT	ENST00000319170.5	-	14	3391_3392	c.3092_3093insA	c.(3091-3093)aatfs	p.N1031fs	RAPH1_ENST00000374493.3_Frame_Shift_Ins_p.N1083fs|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000295851.5_3'UTR	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	1031					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTCCAGAAAGATTGAGTTTTCC	0.545																																						ENST00000319170.5																			0				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(3091-3093)actfs		Ras association (RalGDS/AF-6) and pleckstrin homology domains 1																																				SO:0001589	frameshift_variant	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204304820_204304821insT	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"Pleckstrin homology (PH) domain containing"	14436	protein-coding gene	gene with protein product	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"	609035	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.3093dupA	2.37:g.204304822_204304822dupT	ENSP00000316543:p.Asn1031fs					RAPH1_ENST00000374493.3_Frame_Shift_Ins_p.T1083fs|RAPH1_ENST00000457812.1_Intron	p.T1031fs	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN			14	3391_3392	-			1031					Q96Q37|Q9C0I2	Frame_Shift_Ins	INS	ENST00000319170.5	37	c.3092_3093insA	CCDS2359.1																																																																																				0.545	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		39	66						39	66	---	---	---	---	T	204304821	-	T	204304820	7	5	204	1	0	1	1	0	0	0	0	0	13050	330	12	0	663	0	RAPH1	2	204304820	Frame_Shift_Ins	INS	-	TCGA-EL-A3CZ-01A-11D-A19J-08		204304820	38894553	2	4284											
PHIP	55023	broad.mit.edu	37	chr6	79707237	79707237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgttgctgtgcatttgccGtacaccttcaatttgtccac	8	12	1	0			TCGA-EL-A3CZ-01A-11D-A19J-08	TCGA-EL-A3CZ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c1a1a4-82e1-485a-afce-cafaed57945f	15fb2f33-0687-4679-b3b1-2244f979c0a7	g.chr6:79707237G>A	ENST00000275034.4	-	19	2262	c.2095C>T	c.(2095-2097)Cgg>Tgg	p.R699W		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	699					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TGCATTTGCCGTACACCTTCA	0.468																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(2095-2097)Cgg>Tgg		pleckstrin homology domain interacting protein							250	216	228					6																	79707237		2203	4300	6503	SO:0001583	missense	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79707237G>A	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	15673	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 14"	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.2095C>T	6.37:g.79707237G>A	ENSP00000275034:p.Arg699Trp						p.R699W	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	19	2262	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	699					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.2095C>T	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055776	0.76074	.	.	ENSG00000146247	ENST00000275034	T	0.30981	1.51	4.96	3.99	0.46301	.	0.090653	0.44902	D	0.000417	T	0.42607	0.1210	M	0.62154	1.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.27640	-1.0068	9	.	.	.	-9.4073	15.0895	0.72183	0.0:0.0:0.8485:0.1515	.	699;699	A7J992;Q8WWQ0	.;PHIP_HUMAN	W	699	ENSP00000275034:R699W	.	R	-	1	2	PHIP	79763956	1.000000	0.71417	0.987000	0.45799	0.995000	0.86356	6.204000	0.72143	2.264000	0.75181	0.655000	0.94253	CGG		0.468	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			31	55	0	0	0	0.010818	0	31	55					A	79707237	G	A	79707237	3	1	204	1	0	0	0	0	1	0	0	0	11842	1144	40	1	3458	1	PHIP	6	79707237	Missense_Mutation	SNP	G	TCGA-EL-A3CZ-01A-11D-A19J-08		79707237	91407830	3	4285											
BTRC	8945	broad.mit.edu	37	chr10	103292735	103292735	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gataaaaacacattggaatgCaagcgaattctcacaggcca	8	9	1	0			TCGA-EL-A3CZ-01A-11D-A19J-08	TCGA-EL-A3CZ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c1a1a4-82e1-485a-afce-cafaed57945f	15fb2f33-0687-4679-b3b1-2244f979c0a7	g.chr10:103292735C>T	ENST00000370187.3	+	9	1123	c.1005C>T	c.(1003-1005)tgC>tgT	p.C335C	BTRC_ENST00000393441.4_Silent_p.C294C|BTRC_ENST00000408038.2_Silent_p.C299C	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	335					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|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 dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CATTGGAATGCAAGCGAATTC	0.438																																						ENST00000370187.3																			0				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27						c.(1003-1005)tgC>tgT		beta-transducin repeat containing E3 ubiquitin protein ligase							175	148	157					10																	103292735		2203	4300	6503	SO:0001819	synonymous_variant	8945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		g.chr10:103292735C>T	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"F-boxes / WD-40 domains", "WD repeat domain containing"	1144	protein-coding gene	gene with protein product		603482	"beta-transducin repeat containing"			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.1005C>T	10.37:g.103292735C>T						BTRC_ENST00000408038.2_Silent_p.C299C|BTRC_ENST00000393441.4_Silent_p.C294C	p.C335C	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	9	1123	+		Colorectal(252;0.234)	335					B5MD49|Q5W141|Q5W142|Q9Y213	Silent	SNP	ENST00000370187.3	37	c.1005C>T	CCDS7512.1																																																																																				0.438	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637		6	90	0	0	0	0.001168	0	6	90					T	103292735	C	T	103292735	2	4	204	1	0	0	0	0	0	0	0	1	1569	718	25	2		2	BTRC	10	103292735	Silent	SNP	C	TCGA-EL-A3CZ-01A-11D-A19J-08		103292735	32242012	4	4286											
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	14	13	0	0	rs121913233		TCGA-EL-A3CZ-01A-11D-A19J-08	TCGA-EL-A3CZ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c1a1a4-82e1-485a-afce-cafaed57945f	15fb2f33-0687-4679-b3b1-2244f979c0a7	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117	102	107					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)				HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R	p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		32	46	0	0	0	0.013726	0	32	46					C	533874	T	C	533874	3	2	204	1	0	0	0	0	1	0	0	0	7348	1580	55	3	466	3	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-EL-A3CZ-01A-11D-A19J-08		533874	134472642	5	4287											
GPATCH8	23131	broad.mit.edu	37	chr17	42475015	42475015	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtgggtgaaggtgaagtgcaGtggcagctgctgcagcaggc	19	7	0	2			TCGA-EL-A3CZ-01A-11D-A19J-08	TCGA-EL-A3CZ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c1a1a4-82e1-485a-afce-cafaed57945f	15fb2f33-0687-4679-b3b1-2244f979c0a7	g.chr17:42475015G>C	ENST00000591680.1	-	8	4460	c.4430C>G	c.(4429-4431)aCt>aGt	p.T1477S	GPATCH8_ENST00000434000.1_Missense_Mutation_p.T1399S	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1477	Poly-Ala.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.A1474_A1478delAAATA(1)		breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GTGAAGTGCAGTGGCAGCTGC	0.612																																						ENST00000434000.1																			1	Deletion - In frame(1)	p.A1474_A1478delAAATA(1)	liver(1)	breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(4195-4197)aCt>aGt		G patch domain containing 8							72	63	66					17																	42475015		2203	4300	6503	SO:0001583	missense	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42475015G>C	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"G patch domain containing"	29066	protein-coding gene	gene with protein product		614396	"KIAA0553"	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.4430C>G	17.37:g.42475015G>C	ENSP00000467556:p.Thr1477Ser					GPATCH8_ENST00000591680.1_Missense_Mutation_p.T1477S	p.T1399S			Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	9	4478	-		Prostate(33;0.0181)	1477					B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	c.4196C>G	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.788451	0.31685	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.10005	2.92	5.34	4.36	0.52297	.	0.203375	0.41938	D	0.000799	T	0.04724	0.0128	N	0.04090	-0.28	0.38992	D	0.959166	B	0.31383	0.321	B	0.23852	0.049	T	0.46400	-0.9194	10	0.15952	T	0.53	-14.1487	13.3988	0.60870	0.0772:0.0:0.9228:0.0	.	1477	Q9UKJ3	GPTC8_HUMAN	S	1477;1399	ENSP00000395016:T1399S	ENSP00000335486:T1477S	T	-	2	0	GPATCH8	39830541	1.000000	0.71417	0.997000	0.53966	0.690000	0.40134	9.394000	0.97261	1.254000	0.44035	0.313000	0.20887	ACT		0.612	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		9	20	0	0	0	0.004482	0	9	20					C	42475015	G	C	42475015	3	2	204	1	0	0	0	0	1	0	0	0	6594	1029	36	4	82	4	GPATCH8	17	42475015	Missense_Mutation	SNP	G	TCGA-EL-A3CZ-01A-11D-A19J-08		42475015	38720195	6	4288											
PTCHD2	57540	broad.mit.edu	37	chr1	11562935	11562935	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtcacctacgtggccatgCtggccaagcagtctaccagg	12	13	2	0			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr1:11562935C>T	ENST00000294484.6	+	3	1435	c.1297C>T	c.(1297-1299)Ctg>Ttg	p.L433L	PTCHD2_ENST00000389575.3_Silent_p.L433L	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	433					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)	p.L650L(1)		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)		CGTGGCCATGCTGGCCAAGCA	0.522																																						ENST00000294484.6																			1	Substitution - coding silent(1)	p.L650L(1)	kidney(1)	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.(1297-1299)Ctg>Ttg		patched domain containing 2							63	66	65					1																	11562935		2033	4188	6221	SO:0001819	synonymous_variant	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11562935C>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.1297C>T	1.37:g.11562935C>T						PTCHD2_ENST00000389575.3_Silent_p.L433L	p.L433L	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)	3	1435	+	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)	433					Q5VTU9|Q9UJD6	Silent	SNP	ENST00000294484.6	37	c.1297C>T	CCDS41247.1																																																																																				0.522	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		3	70	0	0	0	0.009096	0	3	70					T	11562935	C	T	11562935	2	4	205	1	0	0	0	0	0	0	0	1	12733	796	28	2		2	PTCHD2	1	11562935	Silent	SNP	C	TCGA-EL-A3D0-01A-12D-A202-08		11562935	237687686	1	4289											
TUFT1	7286	broad.mit.edu	37	chr1	151542172	151542172	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggatgttgagagcttgaggAagacggtgcaggacttgctg	17	5	0	3			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr1:151542172A>G	ENST00000368849.3	+	7	582	c.520A>G	c.(520-522)Aag>Gag	p.K174E	TUFT1_ENST00000538902.1_Missense_Mutation_p.K193E|TUFT1_ENST00000392712.3_Missense_Mutation_p.K119E|TUFT1_ENST00000353024.3_Missense_Mutation_p.K115E|TUFT1_ENST00000368848.2_Missense_Mutation_p.K149E	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	174					bone mineralization (GO:0030282)|odontogenesis (GO:0042476)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	structural constituent of tooth enamel (GO:0030345)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GAGCTTGAGGAAGACGGTGCA	0.517																																						ENST00000368849.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13						c.(520-522)Aag>Gag		tuftelin 1							268	261	263					1																	151542172		2203	4300	6503	SO:0001583	missense	7286				bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel	g.chr1:151542172A>G	AF254260	CCDS1000.1, CCDS44223.1	1q21	2008-02-05			ENSG00000143367	ENSG00000143367			12422	protein-coding gene	gene with protein product		600087				7919663	Standard	NM_020127		Approved		uc001eyl.3	Q9NNX1	OTTHUMG00000012536	ENST00000368849.3:c.520A>G	1.37:g.151542172A>G	ENSP00000357842:p.Lys174Glu					TUFT1_ENST00000392712.3_Missense_Mutation_p.K119E|TUFT1_ENST00000368848.2_Missense_Mutation_p.K149E|TUFT1_ENST00000538902.1_Missense_Mutation_p.K193E|TUFT1_ENST00000353024.3_Missense_Mutation_p.K115E	p.K174E	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		7	582	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		174					B2RD57|D3DV21|D3DV22|Q5T384|Q5T385|Q9BU28|Q9H5L1	Missense_Mutation	SNP	ENST00000368849.3	37	c.520A>G	CCDS1000.1	.	.	.	.	.	.	.	.	.	.	A	0.720	-0.783880	0.02907	.	.	ENSG00000143367	ENST00000368849;ENST00000392712;ENST00000353024;ENST00000368848;ENST00000538902;ENST00000507671	T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76	5.31	2.89	0.33648	.	0.392010	0.30800	N	0.008846	T	0.06050	0.0157	L	0.46157	1.445	0.22701	N	0.998835	B;B;B	0.20780	0.048;0.002;0.001	B;B;B	0.18871	0.023;0.012;0.005	T	0.37731	-0.9693	10	0.11182	T	0.66	-5.4284	5.9606	0.19297	0.6002:0.3142:0.0856:0.0	.	193;149;174	F5H607;Q9NNX1-2;Q9NNX1	.;.;TUFT1_HUMAN	E	174;119;115;149;193;149	ENSP00000357842:K174E;ENSP00000376476:K119E;ENSP00000343781:K115E;ENSP00000357841:K149E;ENSP00000437997:K193E	ENSP00000343781:K115E	K	+	1	0	TUFT1	149808796	1.000000	0.71417	0.530000	0.27963	0.556000	0.35491	1.247000	0.32815	0.816000	0.34421	0.455000	0.32223	AAG		0.517	TUFT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035022.1	NM_020127		4	419	0	0	0	0.014758	0	4	419					G	151542172	A	G	151542172	3	3	205	1	0	0	0	0	1	0	0	0	16769	247	9	3	546	3	TUFT1	1	151542172	Missense_Mutation	SNP	A	TCGA-EL-A3D0-01A-12D-A202-08	139979237	151542172	97708449	2	4290											
PRG4	10216	broad.mit.edu	37	chr1	186276474	186276474	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggagcctgcacccaccacTaccaagtctgcacccaccac	6	19	1	0	rs536432050	byFrequency	TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr1:186276474T>C	ENST00000445192.2	+	7	1668	c.1623T>C	c.(1621-1623)acT>acC	p.T541T	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T500T|PRG4_ENST00000367485.4_Silent_p.T448T|PRG4_ENST00000367486.3_Silent_p.T498T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	541	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACTACCAAGTCTG	0.637													-|||	2	0.000399361	0	0	5008	,	,		6809	0.002		0	False		,,,				2504	0					ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1621-1623)acT>acC		proteoglycan 4							133	120	124					1																	186276474		2203	4298	6501	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276474T>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1623T>C	1.37:g.186276474T>C						PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.T498T|PRG4_ENST00000367483.4_Silent_p.T500T|PRG4_ENST00000367485.4_Silent_p.T448T	p.T541T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1668	+			541			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1623T>C	CCDS1369.1																																																																																				0.637	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		6	122	0	0	0	0.047766	0	6	122					C	186276474	T	C	186276474	2	2	205	1	0	0	0	0	0	0	0	1	12481	1509	53	3		3	PRG4	1	186276474	Silent	SNP	T	TCGA-EL-A3D0-01A-12D-A202-08	34734302	186276474	62974147	3	4291											
PLB1	151056	broad.mit.edu	37	chr2	28808648	28808648	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctctgtgtccctgtgtccTgaagtttgatgataactcaa	9	9	2	3			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr2:28808648T>C	ENST00000327757.5	+	26	1798	c.1754T>C	c.(1753-1755)cTg>cCg	p.L585P	PLB1_ENST00000422425.2_Missense_Mutation_p.L574P|PLB1_ENST00000329020.6_Missense_Mutation_p.L273P	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	585	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CCCTGTGTCCTGAAGTTTGAT	0.468																																						ENST00000422425.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69						c.(1720-1722)cTg>cCg		phospholipase B1							266	211	230					2																	28808648		2203	4300	6503	SO:0001583	missense	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28808648T>C		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.1754T>C	2.37:g.28808648T>C	ENSP00000330442:p.Leu585Pro					PLB1_ENST00000329020.6_Missense_Mutation_p.L273P|PLB1_ENST00000327757.5_Missense_Mutation_p.L585P	p.L574P	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN			25	1765	+	Acute lymphoblastic leukemia(172;0.155)		585			4 X 308-326 AA approximate repeats.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	c.1721T>C	CCDS33168.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.2|26.2	4.715163|4.715163	0.89112|0.89112	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000327757;ENST00000422425;ENST00000436544;ENST00000329020|ENST00000404858	T;T;T;T|.	0.14766|.	2.48;2.48;2.48;2.48|.	5.79|5.79	4.65|4.65	0.58169|0.58169	Esterase, SGNH hydrolase-type (1);Lipase, GDSL (1);|.	0.446678|.	0.21869|.	N|.	0.067919|.	T|.	0.77968|.	0.4210|.	M|M	0.90483|0.90483	3.12|3.12	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D|.	0.89917|.	0.963;1.0;1.0;0.994|.	P;D;D;D|.	0.79108|.	0.839;0.992;0.99;0.968|.	T|.	0.79907|.	-0.1605|.	10|.	0.42905|.	T|.	0.14|.	-5.4543|-5.4543	9.4492|9.4492	0.38717|0.38717	0.0:0.0812:0.0:0.9188|0.0:0.0812:0.0:0.9188	.|.	574;585;273;585|.	Q6P1J6-3;Q6P1J6-4;Q6P1J6-2;Q6P1J6|.	.;.;.;PLB1_HUMAN|.	P|R	585;574;295;273|573	ENSP00000330442:L585P;ENSP00000416440:L574P;ENSP00000392493:L295P;ENSP00000330729:L273P|.	ENSP00000330442:L585P|.	L|X	+|+	2|1	0|0	PLB1|PLB1	28662152|28662152	0.143000|0.143000	0.22626|0.22626	0.166000|0.166000	0.22797|0.22797	0.996000|0.996000	0.88848|0.88848	3.343000|3.343000	0.52167|0.52167	1.038000|1.038000	0.40049|0.40049	0.459000|0.459000	0.35465|0.35465	CTG|TGA		0.468	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			3	99	0	0	0	0.009096	0	3	99					C	28808648	T	C	28808648	3	2	205	1	0	0	0	0	1	0	0	0	12024	1580	55	3	1889	3	PLB1	2	28808648	Missense_Mutation	SNP	T	TCGA-EL-A3D0-01A-12D-A202-08		28808648	214390725	4	4292											
GPR155	151556	broad.mit.edu	37	chr2	175335223	175335223	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gataaacttgtatggttcacCacactgtcgcccttgtccaa	7	12	1	0			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr2:175335223C>T	ENST00000392552.2	-	4	1159	c.921G>A	c.(919-921)gtG>gtA	p.V307V	GPR155_ENST00000392551.2_Silent_p.V307V|GPR155_ENST00000295500.4_Silent_p.V307V	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	307					cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TATGGTTCACCACACTGTCGC	0.408																																						ENST00000392552.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						c.(919-921)gtG>gtA		G protein-coupled receptor 155							106	89	95					2																	175335223		2203	4300	6503	SO:0001819	synonymous_variant	151556				intracellular signal transduction|transmembrane transport	integral to membrane		g.chr2:175335223C>T	AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.921G>A	2.37:g.175335223C>T						GPR155_ENST00000392551.2_Silent_p.V307V|GPR155_ENST00000295500.4_Silent_p.V307V	p.V307V	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN			4	1159	-			307					B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Silent	SNP	ENST00000392552.2	37	c.921G>A	CCDS2259.1																																																																																				0.408	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	NM_152529		5	54	0	0	0	0.02938	0	5	54					T	175335223	C	T	175335223	2	4	205	1	0	0	0	0	0	0	0	1	6660	581	21	2		2	GPR155	2	175335223	Silent	SNP	C	TCGA-EL-A3D0-01A-12D-A202-08	146526575	175335223	67864150	5	4293											
WDR5B	54554	broad.mit.edu	37	chr3	122134317	122134317	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caggcacttccttgctctgaTtggccgatgaggagagggcc	14	11	1	3	rs144433176	byFrequency	TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr3:122134317T>G	ENST00000330689.4	-	1	565	c.59A>C	c.(58-60)aAt>aCt	p.N20T	RP11-299J3.8_ENST00000608756.1_RNA|RP11-299J3.8_ENST00000608465.1_RNA|RP11-299J3.8_ENST00000608015.1_RNA|RP11-299J3.8_ENST00000609469.1_RNA|RP11-299J3.8_ENST00000608346.1_RNA	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	20										kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		CTTGCTCTGATTGGCCGATGA	0.498																																						ENST00000330689.4																			0				kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13						c.(58-60)aAt>aCt		WD repeat domain 5B							138	135	136					3																	122134317		2203	4300	6503	SO:0001583	missense	54554							g.chr3:122134317T>G	AK002149	CCDS3012.1	3q21.1	2013-01-09			ENSG00000196981	ENSG00000196981		"WD repeat domain containing"	17826	protein-coding gene	gene with protein product						10369878	Standard	NM_019069		Approved	FLJ11287	uc003efa.1	Q86VZ2	OTTHUMG00000159489	ENST00000330689.4:c.59A>C	3.37:g.122134317T>G	ENSP00000330381:p.Asn20Thr						p.N20T	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0704)	1	565	-			20					B2RCM9|Q9NUL4	Missense_Mutation	SNP	ENST00000330689.4	37	c.59A>C	CCDS3012.1	.	.	.	.	.	.	.	.	.	.	T	3.257	-0.152010	0.06585	.	.	ENSG00000196981	ENST00000330689	T	0.50277	0.75	4.78	-8.68	0.00859	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.594001	0.20340	N	0.094254	T	0.17408	0.0418	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.03717	-1.1010	10	0.59425	D	0.04	.	5.0054	0.14286	0.0923:0.2653:0.0957:0.5467	.	20	Q86VZ2	WDR5B_HUMAN	T	20	ENSP00000330381:N20T	ENSP00000330381:N20T	N	-	2	0	WDR5B	123617007	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-1.894000	0.01607	-1.564000	0.01678	-1.366000	0.01203	AAT		0.498	WDR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355753.1	NM_019069		76	103	0	0	0	0.139131	0	76	103					G	122134317	T	G	122134317	3	3	205	1	0	0	0	0	1	0	0	0	17306	1493	52	5	937	5	WDR5B	3	122134317	Missense_Mutation	SNP	T	TCGA-EL-A3D0-01A-12D-A202-08		122134317	75888113	6	4294											
MYO10	4651	broad.mit.edu	37	chr5	16769308	16769308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaactgcatcacgtccattGccgtctagaagaaaataaat	7	9	2	3			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr5:16769308G>A	ENST00000513610.1	-	10	1389	c.935C>T	c.(934-936)gCa>gTa	p.A312V		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	312	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CACGTCCATTGCCGTCTAGAA	0.373																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(934-936)gCa>gTa		myosin X							77	70	72					5																	16769308		1885	4110	5995	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16769308G>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.935C>T	5.37:g.16769308G>A	ENSP00000421280:p.Ala312Val						p.A312V	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			10	1389	-			312			Myosin head-like.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.935C>T	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018814	0.75275	.	.	ENSG00000145555	ENST00000513610;ENST00000513882	D;D	0.81821	-1.54;-1.54	5.71	5.71	0.89125	Myosin head, motor domain (2);	.	.	.	.	D	0.93726	0.7995	H	0.97265	3.97	0.80722	D	1	D	0.67145	0.996	D	0.68353	0.957	D	0.95431	0.8516	9	0.87932	D	0	.	19.8557	0.96758	0.0:0.0:1.0:0.0	.	312	Q9HD67	MYO10_HUMAN	V	312;323	ENSP00000421280:A312V;ENSP00000421309:A323V	ENSP00000421280:A312V	A	-	2	0	MYO10	16822308	1.000000	0.71417	0.834000	0.33040	0.071000	0.16799	9.696000	0.98695	2.694000	0.91930	0.585000	0.79938	GCA		0.373	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		14	8	0	0	0	0.105934	0	14	8					A	16769308	G	A	16769308	3	1	205	1	0	0	0	0	1	0	0	0	10062	1319	46	2	5369	2	MYO10	5	16769308	Missense_Mutation	SNP	G	TCGA-EL-A3D0-01A-12D-A202-08		16769308	164145952	7	4295											
DIAPH1	1729	broad.mit.edu	37	chr5	140908072	140908072	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctggaaacttgaggacatcGggatagtcattctcacacaa	9	9	3	1	rs369299884		TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr5:140908072G>C	ENST00000398557.4	-	23	3236	c.3096C>G	c.(3094-3096)ccC>ccG	p.P1032P	DIAPH1_ENST00000389054.3_Silent_p.P1029P|DIAPH1_ENST00000520569.1_Silent_p.P975P|DIAPH1_ENST00000518047.1_Silent_p.P1020P|DIAPH1_ENST00000398562.2_Silent_p.P1008P|DIAPH1_ENST00000389057.5_Silent_p.P1023P|DIAPH1_ENST00000253811.6_Silent_p.P1033P|DIAPH1_ENST00000398566.3_Silent_p.P1024P|DIAPH1_ENST00000494967.1_5'Flank	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	1032	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGGACATCGGGATAGTCAT	0.498																																						ENST00000253811.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23						c.(3097-3099)ccC>ccG		diaphanous-related formin 1							98	92	94					5																	140908072		1958	4167	6125	SO:0001819	synonymous_variant	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140908072G>C	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"diaphanous (Drosophila, homolog) 1", "diaphanous homolog 1 (Drosophila)"	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.3096C>G	5.37:g.140908072G>C						DIAPH1_ENST00000518047.1_Silent_p.P1020P|DIAPH1_ENST00000389057.5_Silent_p.P1023P|DIAPH1_ENST00000398562.2_Silent_p.P1008P|DIAPH1_ENST00000520569.1_Silent_p.P975P|DIAPH1_ENST00000398557.4_Silent_p.P1032P|DIAPH1_ENST00000398566.3_Silent_p.P1024P|DIAPH1_ENST00000389054.3_Silent_p.P1029P	p.P1033P			O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		23	3239	-			1032			FH2.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Silent	SNP	ENST00000398557.4	37	c.3099C>G	CCDS43374.1																																																																																				0.498	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		30	41	0	0	0	0.116897	0	30	41					C	140908072	G	C	140908072	2	2	205	1	0	0	0	0	0	0	0	1	4518	1103	39	4		4	DIAPH1	5	140908072	Silent	SNP	G	TCGA-EL-A3D0-01A-12D-A202-08	124138764	140908072	40007188	8	4296											
ZNF318	24149	broad.mit.edu	37	chr6	43325106	43325106	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctggcaagatccagttctcGaaactcagggtcgagaaacc	10	11	3	2			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr6:43325106G>A	ENST00000361428.2	-	3	1023	c.946C>T	c.(946-948)Cga>Tga	p.R316*	ZNF318_ENST00000318149.3_Nonsense_Mutation_p.R316*	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	316					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R316*(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCCAGTTCTCGAAACTCAGGG	0.522																																						ENST00000361428.2																			1	Substitution - Nonsense(1)	p.R316*(1)	endometrium(1)	autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(946-948)Cga>Tga		zinc finger protein 318							166	145	152					6																	43325106		2203	4300	6503	SO:0001587	stop_gained	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43325106G>A	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.946C>T	6.37:g.43325106G>A	ENSP00000354964:p.Arg316*					ZNF318_ENST00000318149.3_Nonsense_Mutation_p.R316*	p.R316*	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		3	1023	-			316					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Nonsense_Mutation	SNP	ENST00000361428.2	37	c.946C>T	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	G	37	6.066661	0.97251	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	.	.	.	5.64	3.75	0.43078	.	0.161081	0.38326	N	0.001735	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.4378	11.1986	0.48728	0.0:0.1376:0.7192:0.1432	.	.	.	.	X	316	.	ENSP00000323032:R316X	R	-	1	2	ZNF318	43433084	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.731000	0.47343	1.340000	0.45581	0.650000	0.86243	CGA		0.522	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		16	55	0	0	0	0.146539	0	16	55					A	43325106	G	A	43325106	4	1	205	1	0	0	0	0	0	1	0	0	17833	1066	37	1	5925	1	ZNF318	6	43325106	Nonsense_Mutation	SNP	G	TCGA-EL-A3D0-01A-12D-A202-08		43325106	127789961	9	4297											
BEND6	221336	broad.mit.edu	37	chr6	56883337	56883337	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatcttaactctcaggaTattaaatagatccttttggt	5	6	2	1			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr6:56883337T>A	ENST00000370746.3	+	6	1100	c.831T>A	c.(829-831)gaT>gaA	p.D277E	BEND6_ENST00000370750.2_3'UTR|BEND6_ENST00000545789.1_Missense_Mutation_p.D179E	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	277					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						ACTCTCAGGATATTAAATAGA	0.313																																						ENST00000370746.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						c.(829-831)gaT>gaA		BEN domain containing 6							60	57	58					6																	56883337		1815	4066	5881	SO:0001583	missense	221336							g.chr6:56883337T>A	AK054724	CCDS43476.1	6p12.1	2012-11-22	2008-10-03	2008-10-03	ENSG00000151917	ENSG00000151917		"BEN domain containing"	20871	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 65"	C6orf65			Standard	NM_152731		Approved	FLJ30162, bA203B9.1	uc010kab.3	Q5SZJ8	OTTHUMG00000014914	ENST00000370746.3:c.831T>A	6.37:g.56883337T>A	ENSP00000359782:p.Asp277Glu					BEND6_ENST00000545789.1_Missense_Mutation_p.D179E|BEND6_ENST00000370750.2_3'UTR	p.D277E	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN			6	1100	+			277					Q4G0W8|Q8N662|Q96NS6	Missense_Mutation	SNP	ENST00000370746.3	37	c.831T>A	CCDS43476.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.212778	0.79352	.	.	ENSG00000151917	ENST00000370746;ENST00000545789	.	.	.	4.96	3.79	0.43588	.	0.439888	0.16249	U	0.222800	T	0.13415	0.0325	N	0.19112	0.55	0.29559	N	0.850773	B;B	0.31817	0.231;0.341	B;B	0.32864	0.107;0.154	T	0.09250	-1.0683	9	0.87932	D	0	-20.2422	8.9054	0.35521	0.0:0.0853:0.0:0.9147	.	277;179	Q5SZJ8;Q5SZJ8-3	BEND6_HUMAN;.	E	277;179	.	ENSP00000359782:D277E	D	+	3	2	BEND6	56991296	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.116000	0.41930	1.010000	0.39314	0.533000	0.62120	GAT		0.313	BEND6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041032.4	NM_152731		18	32	0	0	0	0.0333	0	18	32					A	56883337	T	A	56883337	3	1	205	1	0	0	0	0	1	0	0	0	1402	1403	49	5	849	5	BEND6	6	56883337	Missense_Mutation	SNP	T	TCGA-EL-A3D0-01A-12D-A202-08	13558231	56883337	114231730	10	4298											
MED23	9439	broad.mit.edu	37	chr6	131926420	131926420	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtgaatccaggaggttcaTaggtaagggggtaatagatc	14	5	1	2			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr6:131926420T>C	ENST00000368068.3	-	14	1752	c.1573A>G	c.(1573-1575)Atg>Gtg	p.M525V	MED23_ENST00000354577.4_Missense_Mutation_p.M531V|MED23_ENST00000540546.1_Missense_Mutation_p.M531V|MED23_ENST00000403834.3_Missense_Mutation_p.M531V|MED23_ENST00000368060.3_Missense_Mutation_p.M525V|MED23_ENST00000545957.1_Missense_Mutation_p.M166V|MED23_ENST00000368053.4_Missense_Mutation_p.M531V|MED23_ENST00000539158.1_Intron|MED23_ENST00000368058.1_Missense_Mutation_p.M531V	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	525					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		AGGAGGTTCATAGGTAAGGGG	0.393																																						ENST00000403834.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44						c.(1591-1593)Atg>Gtg		mediator complex subunit 23							95	92	93					6																	131926420		2203	4300	6503	SO:0001583	missense	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131926420T>C	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.1573A>G	6.37:g.131926420T>C	ENSP00000357047:p.Met525Val					MED23_ENST00000368068.3_Missense_Mutation_p.M525V|MED23_ENST00000354577.4_Missense_Mutation_p.M531V|MED23_ENST00000368060.3_Missense_Mutation_p.M525V|MED23_ENST00000540546.1_Missense_Mutation_p.M531V|MED23_ENST00000368058.1_Missense_Mutation_p.M531V|MED23_ENST00000545957.1_Missense_Mutation_p.M166V|MED23_ENST00000539158.1_Intron|MED23_ENST00000368053.4_Missense_Mutation_p.M531V	p.M531V			Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	14	1764	-	Breast(56;0.0753)		525					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	ENST00000368068.3	37	c.1591A>G	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	T	13.18	2.159918	0.38119	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957;ENST00000368053;ENST00000540546	T;T;T;T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.56262	0.1973	L	0.31752	0.955	0.80722	D	1	P;B;P;P	0.40398	0.716;0.452;0.536;0.48	B;P;B;B	0.44623	0.268;0.455;0.206;0.13	T	0.58358	-0.7650	10	0.14656	T	0.56	-14.0275	16.2567	0.82522	0.0:0.0:0.0:1.0	.	166;531;525;531	B4E3G4;Q9ULK4-2;Q9ULK4;Q9ULK4-3	.;.;MED23_HUMAN;.	V	531;525;531;525;531;166;531;531	ENSP00000346588:M531V;ENSP00000357047:M525V;ENSP00000384536:M531V;ENSP00000357039:M525V;ENSP00000357037:M531V;ENSP00000439977:M166V;ENSP00000357032:M531V;ENSP00000437818:M531V	ENSP00000346588:M531V	M	-	1	0	MED23	131968113	1.000000	0.71417	0.993000	0.49108	0.977000	0.68977	8.040000	0.89188	2.242000	0.73789	0.482000	0.46254	ATG		0.393	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			3	85	0	0	0	0.009096	0	3	85					C	131926420	T	C	131926420	3	2	205	1	0	0	0	0	1	0	0	0	9441	1406	49	3	2604	3	MED23	6	131926420	Missense_Mutation	SNP	T	TCGA-EL-A3D0-01A-12D-A202-08	75043083	131926420	39188647	11	4299											
CCL24	6369	broad.mit.edu	37	chr7	75441263	75441263	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggggtcgccacagaactgctGgcccttcttggtggtgaagc	15	11	1	2			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr7:75441263G>C	ENST00000416943.1	-	4	304	c.211C>G	c.(211-213)Cag>Gag	p.Q71E	CCL24_ENST00000222902.2_Missense_Mutation_p.Q71E	NM_002991.2	NP_002982.2	O00175	CCL24_HUMAN	chemokine (C-C motif) ligand 24	71					cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of inflammatory response (GO:0050729)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)			endometrium(1)|lung(2)	3						CAGAACTGCTGGCCCTTCTTG	0.612																																						ENST00000416943.1																			0				endometrium(1)|lung(2)	3						c.(211-213)Cag>Gag		chemokine (C-C motif) ligand 24							84	70	75					7																	75441263		2203	4300	6503	SO:0001583	missense	6369				cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity	g.chr7:75441263G>C	U85768	CCDS34670.1	7q11.23	2013-02-25	2002-08-22	2002-08-23	ENSG00000106178	ENSG00000106178		"Chemokine ligands", "Endogenous ligands"	10623	protein-coding gene	gene with protein product	"CK-beta-6", "myeloid progenitor inhibitory factor 2", "eotaxin-2"	602495	"small inducible cytokine subfamily A (Cys-Cys), member 24"	SCYA24		9104803, 9598329	Standard	NM_002991		Approved	Ckb-6, MPIF-2, eotaxin-2, MPIF2	uc011kga.2	O00175	OTTHUMG00000156635	ENST00000416943.1:c.211C>G	7.37:g.75441263G>C	ENSP00000400533:p.Gln71Glu					CCL24_ENST00000222902.2_Missense_Mutation_p.Q71E	p.Q71E	NM_002991.2	NP_002982.2	O00175	CCL24_HUMAN			4	304	-			71					B2R5K2	Missense_Mutation	SNP	ENST00000416943.1	37	c.211C>G	CCDS34670.1	.	.	.	.	.	.	.	.	.	.	G	5.377	0.254886	0.10185	.	.	ENSG00000106178	ENST00000222902;ENST00000416943	T;T	0.04654	3.58;3.58	4.33	3.43	0.39272	Chemokine interleukin-8-like domain (3);	1.572840	0.03766	N	0.258990	T	0.09818	0.0241	M	0.67953	2.075	0.20403	N	0.999908	B	0.28820	0.224	B	0.26094	0.066	T	0.40608	-0.9554	10	0.51188	T	0.08	.	10.4625	0.44587	0.0:0.1985:0.8015:0.0	.	71	O00175	CCL24_HUMAN	E	71	ENSP00000222902:Q71E;ENSP00000400533:Q71E	ENSP00000222902:Q71E	Q	-	1	0	CCL24	75279199	0.628000	0.27138	0.182000	0.23118	0.107000	0.19398	1.216000	0.32443	0.932000	0.37266	-0.315000	0.08773	CAG		0.612	CCL24-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344886.1	NM_002991		3	97	0	0	0	0.115264	0	3	97					C	75441263	G	C	75441263	3	2	205	1	0	0	0	0	1	0	0	0	2896	1357	47	4	150	4	CCL24	7	75441263	Missense_Mutation	SNP	G	TCGA-EL-A3D0-01A-12D-A202-08		75441263	83697400	12	4300											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		65	50	0	0	0	0.139131	0	65	50					T	140453136	A	T	140453136	3	4	205	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3D0-01A-12D-A202-08	65011873	140453136	18685527	13	4301											
UBXN2B	137886	broad.mit.edu	37	chr8	59352245	59352245	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtggccaagtgaatttggAtatggaggatcatcaggatc	14	5	2	1			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr8:59352245A>G	ENST00000399598.2	+	6	709	c.587A>G	c.(586-588)gAt>gGt	p.D196G		NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	196	SEP. {ECO:0000255|PROSITE- ProRule:PRU00732}.					endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						GTGAATTTGGATATGGAGGAT	0.383																																						ENST00000399598.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(586-588)gAt>gGt		UBX domain protein 2B							109	102	104					8																	59352245		1846	4078	5924	SO:0001583	missense	137886					cytosol|endoplasmic reticulum|Golgi apparatus|nucleus		g.chr8:59352245A>G	AK054658	CCDS43741.1	8q12.1	2008-08-08			ENSG00000215114	ENSG00000215114		"UBX domain containing"	27035	protein-coding gene	gene with protein product		610686				8619474, 9110174	Standard	NM_001077619		Approved	p37	uc003xtl.3	Q14CS0	OTTHUMG00000164300	ENST00000399598.2:c.587A>G	8.37:g.59352245A>G	ENSP00000382507:p.Asp196Gly						p.D196G	NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN			6	709	+			196			SEP.		B3KWZ3	Missense_Mutation	SNP	ENST00000399598.2	37	c.587A>G	CCDS43741.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.574574	0.86542	.	.	ENSG00000215114	ENST00000399598	T	0.45276	0.9	5.42	5.42	0.78866	SEP domain (4);	0.000000	0.46145	U	0.000309	T	0.62307	0.2417	M	0.67953	2.075	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.64428	-0.6410	10	0.54805	T	0.06	-23.9359	14.0397	0.64667	1.0:0.0:0.0:0.0	.	196	Q14CS0	UBX2B_HUMAN	G	196	ENSP00000382507:D196G	ENSP00000382507:D196G	D	+	2	0	UBXN2B	59514799	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	8.768000	0.91737	2.071000	0.62044	0.491000	0.48974	GAT		0.383	UBXN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378184.1	NM_001077619		20	119	0	0	0	0.055883	0	20	119					G	59352245	A	G	59352245	3	3	205	1	0	0	0	0	1	0	0	0	16912	333	12	3	609	3	UBXN2B	8	59352245	Missense_Mutation	SNP	A	TCGA-EL-A3D0-01A-12D-A202-08		59352245	87011777	14	4302											
ENPP2	5168	broad.mit.edu	37	chr8	120650732	120650732	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgaatcctaagcagatAttgactccaacggcaaaagt	9	9	0	3			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr8:120650732A>G	ENST00000075322.6	-	2	127	c.69T>C	c.(67-69)aaT>aaC	p.N23N	ENPP2_ENST00000427067.2_Silent_p.N19N|ENPP2_ENST00000259486.6_Silent_p.N23N|ENPP2_ENST00000522826.1_Silent_p.N23N	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	23				N -> S (in Ref. 1; AAA64785 and 5; ABW38316). {ECO:0000305}.	cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CTAAGCAGATATTGACTCCAA	0.378																																					Melanoma(20;305 879 2501 4818 31020)	ENST00000427067.2																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(55-57)aaT>aaC		ectonucleotide pyrophosphatase/phosphodiesterase 2							143	144	144					8																	120650732		2203	4300	6503	SO:0001819	synonymous_variant	0				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120650732A>G	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"autotaxin"	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.69T>C	8.37:g.120650732A>G						ENPP2_ENST00000522826.1_Silent_p.N23N|ENPP2_ENST00000075322.6_Silent_p.N23N|ENPP2_ENST00000259486.6_Silent_p.N23N	p.N19N			Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		2	237	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		23					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Silent	SNP	ENST00000075322.6	37	c.57T>C	CCDS34936.1																																																																																				0.378	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			38	128	0	0	0	0.131918	0	38	128					G	120650732	A	G	120650732	2	3	205	1	0	0	0	0	0	0	0	1	5130	446	16	3		3	ENPP2	8	120650732	Silent	SNP	A	TCGA-EL-A3D0-01A-12D-A202-08	61298487	120650732	25713290	15	4303											
OR1J2	26740	broad.mit.edu	37	chr9	125273586	125273586	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgacccggctgtctttctGtgctgcgaacaccatccccc	8	18	2	1			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr9:125273586G>T	ENST00000335302.5	+	1	506	c.506G>T	c.(505-507)tGt>tTt	p.C169F		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	169						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)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CTGTCTTTCTGTGCTGCGAAC	0.522																																						ENST00000335302.5																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						c.(505-507)tGt>tTt		olfactory receptor, family 1, subfamily J, member 2							187	155	166					9																	125273586		2203	4300	6503	SO:0001583	missense	26740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125273586G>T		CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"GPCR / Class A : Olfactory receptors"	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.506G>T	9.37:g.125273586G>T	ENSP00000335575:p.Cys169Phe						p.C169F	NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN			1	506	+			169					A3KFL9|Q6IF14|Q96R90|Q9NZP1	Missense_Mutation	SNP	ENST00000335302.5	37	c.506G>T	CCDS35121.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.676232	0.29783	.	.	ENSG00000197233	ENST00000335302	T	0.00249	8.44	4.91	2.01	0.26516	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	U	0.000533	T	0.00300	0.0009	M	0.90814	3.15	0.27958	N	0.936891	B	0.14438	0.01	B	0.20384	0.029	T	0.38394	-0.9663	10	0.66056	D	0.02	.	6.5425	0.22388	0.1601:0.0:0.6939:0.1459	.	169	Q8NGS2	OR1J2_HUMAN	F	169	ENSP00000335575:C169F	ENSP00000335575:C169F	C	+	2	0	OR1J2	124313407	1.000000	0.71417	0.055000	0.19348	0.004000	0.04260	4.484000	0.60271	0.263000	0.21812	0.650000	0.86243	TGT		0.522	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053932.1			23	148	1	0	2.44723e-14	0.099896	3.05904e-14	23	148					T	125273586	G	T	125273586	3	4	205	1	0	0	0	0	1	0	0	0	10960	1377	48	4	508	4	OR1J2	9	125273586	Missense_Mutation	SNP	G	TCGA-EL-A3D0-01A-12D-A202-08		125273586	15939845	16	4304											
MLLT10	8028	broad.mit.edu	37	chr10	22022990	22022990	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcacaatgtcccagaacccTacccctctcacccacacaac	3	20	2	1			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr10:22022990T>C	ENST00000307729.7	+	20	2968	c.2790T>C	c.(2788-2790)ccT>ccC	p.P930P	MLLT10_ENST00000377072.3_Silent_p.P946P|MLLT10_ENST00000377059.3_Silent_p.P930P|MLLT10_ENST00000446906.2_Silent_p.P930P			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	930					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						CCCAGAACCCTACCCCTCTCA	0.438			T	"MLL, PICALM, CDK6"	AL																																	ENST00000377072.3				Dom	yes		10	10p12	8028	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"			L	"MLL, PICALM, CDK6"		AL		0				NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(2836-2838)ccT>ccC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10							118	98	105					10																	22022990		2203	4300	6503	SO:0001819	synonymous_variant	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:22022990T>C	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"Zinc fingers, PHD-type"	16063	protein-coding gene	gene with protein product		602409	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.2790T>C	10.37:g.22022990T>C						MLLT10_ENST00000307729.7_Silent_p.P930P|MLLT10_ENST00000446906.2_Silent_p.P930P|MLLT10_ENST00000377059.3_Silent_p.P930P	p.P946P	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN			21	3186	+			946					B1ANA8|Q5JT37|Q5VX90|Q66K63	Silent	SNP	ENST00000307729.7	37	c.2838T>C	CCDS55708.1																																																																																				0.438	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			3	81	0	0	0	0.115264	0	3	81					C	22022990	T	C	22022990	2	2	205	1	0	0	0	0	0	0	0	1	9626	1509	53	3		3	MLLT10	10	22022990	Silent	SNP	T	TCGA-EL-A3D0-01A-12D-A202-08		22022990	113511757	17	4305											
LRRC56	115399	broad.mit.edu	37	chr11	552111	552111	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccagggagccccccgagcagCtgccccaacacaggccagga	12	18	0	0			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr11:552111C>G	ENST00000270115.7	+	12	1560	c.1060C>G	c.(1060-1062)Ctg>Gtg	p.L354V		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	354										kidney(1)|lung(4)|skin(1)	6		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;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCCGAGCAGCTGCCCCAACA	0.677																																						ENST00000270115.7																			0				kidney(1)|lung(4)|skin(1)	6						c.(1060-1062)Ctg>Gtg		leucine rich repeat containing 56							37	46	43					11																	552111		2201	4300	6501	SO:0001583	missense	115399							g.chr11:552111C>G		CCDS7700.1	11p15.5	2005-10-18			ENSG00000161328	ENSG00000161328			25430	protein-coding gene	gene with protein product						12477932	Standard	NM_198075		Approved	FLJ00101, DKFZp761L1518	uc010qvz.2	Q8IYG6	OTTHUMG00000132003	ENST00000270115.7:c.1060C>G	11.37:g.552111C>G	ENSP00000270115:p.Leu354Val						p.L354V	NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	12	1560	+		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)	354					Q8N3Q4	Missense_Mutation	SNP	ENST00000270115.7	37	c.1060C>G	CCDS7700.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.721733	0.30503	.	.	ENSG00000161328	ENST00000270115	T	0.13901	2.55	4.38	-0.826	0.10805	.	0.356051	0.19991	N	0.101562	T	0.09202	0.0227	L	0.27053	0.805	0.09310	N	1	P	0.42908	0.793	B	0.43754	0.43	T	0.17653	-1.0362	10	0.62326	D	0.03	-27.0464	4.5887	0.12295	0.149:0.488:0.0:0.363	.	354	Q8IYG6	LRC56_HUMAN	V	354	ENSP00000270115:L354V	ENSP00000270115:L354V	L	+	1	2	LRRC56	542111	0.268000	0.24133	0.066000	0.19879	0.071000	0.16799	0.476000	0.22180	-0.026000	0.13895	-0.254000	0.11334	CTG		0.677	LRRC56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254969.1	NM_198075		33	84	0	0	0	0.059317	0	33	84					G	552111	C	G	552111	3	3	205	1	0	0	0	0	1	0	0	0	9012	796	28	4	1094	4	LRRC56	11	552111	Missense_Mutation	SNP	C	TCGA-EL-A3D0-01A-12D-A202-08		552111	134454405	18	4306											
GPR44	11251	broad.mit.edu	37	chr11	60620166	60620167	+	In_Frame_Ins	INS	-	-	GCG													gagcgggcggtggaggaggtINSgcggcggcggcggctgcttc					rs55642873	byFrequency	TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr11:60620166_60620167insGCG	ENST00000332539.4	-	2	1140_1141	c.1029_1030insCGC	c.(1027-1032)cgcacc>cgcCGCacc	p.343_344insR	RP11-804A23.4_ENST00000538705.1_RNA	NM_004778.2	NP_004769.2	Q9Y5Y4	PD2R2_HUMAN	prostaglandin D2 receptor 2	343					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|calcium-mediated signaling (GO:0019722)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|prostaglandin D receptor activity (GO:0004956)|prostaglandin F receptor activity (GO:0004958)|prostaglandin J receptor activity (GO:0001785)									Indomethacin(DB00328)|Sulindac(DB00605)	GTGGAGGAGGTGCGGCGGCGGC	0.748														93	0.0185703	0.0514	0.0086	5008	,	,		8844	0		0.0119	False		,,,				2504	0.0072					ENST00000332539.4																			0											c.(1027-1032)cgcctc>cgCGCcctc		prostaglandin D2 receptor 2																																				SO:0001652	inframe_insertion	11251				immune response	integral to plasma membrane	N-formyl peptide receptor activity	g.chr11:60620166_60620167insGCG	AF118265	CCDS7994.1	11q12-q13.3	2012-08-08	2011-11-11	2011-11-11		ENSG00000183134		"CD molecules", "GPCR / Class A : Prostanoid receptors"	4502	protein-coding gene	gene with protein product	"chemoattractant receptor homologous molecule expressed on T helper type 2 cells"	604837	"G protein-coupled receptor 44"	GPR44		10036181	Standard	NM_004778		Approved	CRTH2, CD294, DP2	uc001nqc.2	Q9Y5Y4		ENST00000332539.4:c.1027_1029dupCGC	11.37:g.60620173_60620175dupGCG	ENSP00000332812:p.Arg343_Arg343dup						p.343_344RL>RAL	NM_004778.2	NP_004769.2	Q9Y5Y4	GPR44_HUMAN			2	1140_1141	-			343					O94765|Q4QRI6	In_Frame_Ins	INS	ENST00000332539.4	37	c.1029_1030insCGC	CCDS7994.1																																																																																				0.748	PTGDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396328.1	NM_004778		4	3						4	3	---	---	---	---	GCG	60620167	-	GCG	60620166	7	5	205	1	0	1	1	0	0	0	0	0	6695	1696	59	0	161	0	GPR44	11	60620166	In_Frame_Ins	INS	-	TCGA-EL-A3D0-01A-12D-A202-08	60068055	60620166	74386350	19	4307											
CASP4	837	broad.mit.edu	37	chr11	104825694	104825694	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatctttgcccagggattcCaacaccttaagtggcttttt	7	10	1	0			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr11:104825694C>T	ENST00000444739.2	-	2	952	c.42G>A	c.(40-42)ttG>ttA	p.L14L	CASP4_ENST00000531333.1_5'UTR|CASP4_ENST00000393150.3_5'UTR	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	14	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|IPAF inflammasome complex (GO:0072557)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activity (GO:0004197)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		CCAGGGATTCCAACACCTTAA	0.388																																						ENST00000444739.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23						c.(40-42)ttG>ttA		caspase 4, apoptosis-related cysteine peptidase							94	89	91					11																	104825694		2202	4299	6501	SO:0001819	synonymous_variant	837				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104825694C>T	U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954		"Caspases"	1505	protein-coding gene	gene with protein product		602664	"caspase 4, apoptosis-related cysteine protease"			7797510, 9250871	Standard	NM_001225		Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000444739.2:c.42G>A	11.37:g.104825694C>T						CASP4_ENST00000393150.3_5'UTR|CASP4_ENST00000531333.1_5'UTR	p.L14L	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)	2	952	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	14			CARD.		A2NHL8|A2NHM0	Silent	SNP	ENST00000444739.2	37	c.42G>A	CCDS8327.1																																																																																				0.388	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387751.1	NM_001225		27	63	0	0	0	0.116897	0	27	63					T	104825694	C	T	104825694	2	4	205	1	0	0	0	0	0	0	0	1	2673	593	21	2		2	CASP4	11	104825694	Silent	SNP	C	TCGA-EL-A3D0-01A-12D-A202-08	44205528	104825694	30180822	20	4308											
MBD6	114785	broad.mit.edu	37	chr12	57921648	57921648	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggtgacctgtcttcactgAccagcagccctggagccctc	10	16	2	2			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr12:57921648A>G	ENST00000355673.3	+	9	2610	c.2254A>G	c.(2254-2256)Acc>Gcc	p.T752A	MBD6_ENST00000431731.2_Missense_Mutation_p.T752A	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	752	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						GTCTTCACTGACCAGCAGCCC	0.577																																						ENST00000355673.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						c.(2254-2256)Acc>Gcc		methyl-CpG binding domain protein 6							102	111	108					12																	57921648		2202	4299	6501	SO:0001583	missense	0					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57921648A>G	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.2254A>G	12.37:g.57921648A>G	ENSP00000347896:p.Thr752Ala					MBD6_ENST00000431731.2_Missense_Mutation_p.T752A	p.T752A	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN			9	2610	+			752			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	ENST00000355673.3	37	c.2254A>G	CCDS8944.1	.	.	.	.	.	.	.	.	.	.	A	10.26	1.301780	0.23736	.	.	ENSG00000166987	ENST00000355673;ENST00000431731;ENST00000300263	.	.	.	4.94	3.75	0.43078	.	0.538304	0.15939	N	0.237289	T	0.21468	0.0517	N	0.08118	0	0.26943	N	0.966194	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.16394	-1.0404	9	0.23302	T	0.38	-2.8222	8.9734	0.35921	0.9124:0.0:0.0876:0.0	.	752;752	Q6P0P0;Q96DN6	.;MBD6_HUMAN	A	752;752;216	.	ENSP00000300263:T216A	T	+	1	0	MBD6	56207915	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.818000	0.48041	0.968000	0.38212	0.459000	0.35465	ACC		0.577	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			3	238	0	0	0	0.115264	0	3	238					G	57921648	A	G	57921648	3	3	205	1	0	0	0	0	1	0	0	0	9348	275	10	3	2280	3	MBD6	12	57921648	Missense_Mutation	SNP	A	TCGA-EL-A3D0-01A-12D-A202-08		57921648	75930247	21	4309											
GCN1L1	10985	broad.mit.edu	37	chr12	120572142	120572142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtgagacgatgtttttccGgatgacggcatccactttgg	13	8	0	2			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr12:120572142G>A	ENST00000300648.6	-	53	7282	c.7270C>T	c.(7270-7272)Cgg>Tgg	p.R2424W		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2424					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATGTTTTTCCGGATGACGGCA	0.592																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(7270-7272)Cgg>Tgg		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							119	121	120					12																	120572142		2122	4230	6352	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120572142G>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.7270C>T	12.37:g.120572142G>A	ENSP00000300648:p.Arg2424Trp						p.R2424W	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			53	7282	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		2424					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.7270C>T	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887564	0.72410	.	.	ENSG00000089154	ENST00000300648	T	0.64803	-0.12	5.5	3.56	0.40772	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73071	0.3540	M	0.89095	3.005	0.80722	D	1	D	0.64830	0.994	P	0.48815	0.591	T	0.81129	-0.1073	10	0.87932	D	0	-25.4064	14.1936	0.65654	0.0:0.0:0.5127:0.4873	.	2424	Q92616	GCN1L_HUMAN	W	2424	ENSP00000300648:R2424W	ENSP00000300648:R2424W	R	-	1	2	GCN1L1	119056525	1.000000	0.71417	0.997000	0.53966	0.874000	0.50279	3.123000	0.50453	1.288000	0.44600	0.511000	0.50034	CGG		0.592	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			10	98	0	0	0	0.105934	0	10	98					A	120572142	G	A	120572142	3	1	205	1	0	0	0	0	1	0	0	0	6299	1115	39	1	769	1	GCN1L1	12	120572142	Missense_Mutation	SNP	G	TCGA-EL-A3D0-01A-12D-A202-08	62650494	120572142	13279753	22	4310											
CAMKK2	10645	broad.mit.edu	37	chr12	121706441	121706441	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaggcccgccaaactcacGtggaaagccggcctgccgga	12	15	1	0	rs200886794		TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr12:121706441G>A	ENST00000324774.5	-	5	1453	c.625C>T	c.(625-627)Cgt>Tgt	p.R209C	CAMKK2_ENST00000402834.4_Splice_Site_p.R209C|CAMKK2_ENST00000404169.3_Splice_Site_p.R209C|CAMKK2_ENST00000446440.2_Splice_Site_p.R209C|CAMKK2_ENST00000392474.2_Splice_Site_p.R209C|CAMKK2_ENST00000412367.2_Splice_Site_p.R209C|CAMKK2_ENST00000538733.1_Splice_Site_p.R209C|CAMKK2_ENST00000392473.2_Splice_Site_p.R209C|CAMKK2_ENST00000347034.2_Splice_Site_p.R209C|CAMKK2_ENST00000337174.3_Splice_Site_p.R209C|CAMKK2_ENST00000535524.1_Intron	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	209	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|RP domain.				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)					CCAAACTCACGTGGAAAGCCG	0.552																																						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.e5+1		calcium/calmodulin-dependent protein kinase kinase 2, beta							148	143	145					12																	121706441		2203	4300	6503	SO:0001630	splice_region_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.chr12:121706441G>A	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.625+1C>T	12.37:g.121706441G>A						CAMKK2_ENST00000402834.4_Splice_Site_p.R209_splice|CAMKK2_ENST00000347034.2_Splice_Site_p.R209_splice|CAMKK2_ENST00000337174.3_Splice_Site_p.R209_splice|CAMKK2_ENST00000392474.2_Splice_Site_p.R209_splice|CAMKK2_ENST00000535524.1_Intron|CAMKK2_ENST00000446440.2_Splice_Site_p.R209_splice|CAMKK2_ENST00000412367.2_Splice_Site_p.R209_splice|CAMKK2_ENST00000404169.3_Splice_Site_p.R209_splice|CAMKK2_ENST00000392473.2_Splice_Site_p.R209_splice|CAMKK2_ENST00000538733.1_Splice_Site_p.R209_splice	p.R209_splice	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN			5	1453	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		209			Protein kinase.|RP domain.		A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	Splice_Site	SNP	ENST00000324774.5	37	c.625_splice	CCDS9216.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825996	0.90955	.	.	ENSG00000110931	ENST00000392474;ENST00000347034;ENST00000538733;ENST00000337174;ENST00000324774;ENST00000412367;ENST00000404169;ENST00000360452;ENST00000446440;ENST00000392473	T;T;T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	4.99	4.99	0.66335	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	0.85682	D	0.000000	T	0.81327	0.4799	M	0.70842	2.15	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.83275	0.983;0.988;0.993;0.993;0.993;0.996;0.993	D	0.83522	0.0086	10	0.87932	D	0	4.9114	17.3098	0.87206	0.0:0.0:1.0:0.0	.	209;209;209;209;209;209;209	Q96RR4-6;Q96RR4-2;Q96RR4-7;Q96RR4-5;Q96RR4-4;Q96RR4;Q96RR4-3	.;.;.;.;.;KKCC2_HUMAN;.	C	209;209;209;209;209;209;209;192;209;209	ENSP00000376266:R209C;ENSP00000321230:R209C;ENSP00000445944:R209C;ENSP00000336634:R209C;ENSP00000312741:R209C;ENSP00000388368:R209C;ENSP00000384600:R209C;ENSP00000388273:R209C;ENSP00000376265:R209C	ENSP00000312741:R209C	R	-	1	0	CAMKK2	120190824	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	8.890000	0.92477	2.522000	0.85027	0.558000	0.71614	CGT		0.552	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402563.1	NM_172226	Missense_Mutation	114	154	0	0	0	0.139131	0	114	154					A	121706441	G	A	121706441	5	1	205	1	0	0	0	0	0	0	1	0	2607	1159	40	1	1203	1	CAMKK2	12	121706441	Splice_Site	SNP	G	TCGA-EL-A3D0-01A-12D-A202-08	1134299	121706441	12145454	23	4311											
EP400	57634	broad.mit.edu	37	chr12	132547141	132547141	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaGcagcagcagcaacagacgac	11	14	0	1			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000389561.2_Silent_p.Q2743Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	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.Q2742Q(2)		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)		agcagcaacagcagcagcagc	0.597																																						ENST00000333577.4																			2	Substitution - coding silent(2)	p.Q2742Q(2)	kidney(2)	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.(8335-8337)caG>caA		E1A binding protein p400							52	42	46					12																	132547141		2203	4300	6503	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.chr12:132547141G>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.8337G>A	12.37:g.132547141G>A						EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389562.2_Silent_p.Q2742Q	p.Q2779Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8446	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2779			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8337G>A																																																																																					0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		5	69	0	0	0	0.014758	0	5	69					A	132547141	G	A	132547141	2	1	205	1	0	0	0	0	0	0	0	1	5149	962	34	2		2	EP400	12	132547141	Silent	SNP	G	TCGA-EL-A3D0-01A-12D-A202-08	10840700	132547141	1304754	24	4312											
DACH1	1602	broad.mit.edu	37	chr13	72204797	72204797	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttcaccttcattgcttcAgcaatagctgcattggtagc	7	10	3	0			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr13:72204797A>G	ENST00000359684.2	-	3	1022	c.1023T>C	c.(1021-1023)gcT>gcC	p.A341A	DACH1_ENST00000354591.4_Intron|DACH1_ENST00000305425.4_Silent_p.A341A|DACH1_ENST00000313174.7_Silent_p.A341A			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	341	Interaction with SIX6 and HDAC3. {ECO:0000250}.				cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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 sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TCATTGCTTcagcaatagctg	0.393																																						ENST00000305425.4																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1021-1023)gcT>gcC		dachshund homolog 1 (Drosophila)							140	127	131					13																	72204797		1830	4080	5910	SO:0001819	synonymous_variant	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72204797A>G	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"dachshund homolog (Drosophila)", "dachshund homolog 1 (Drosophila)"	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1023T>C	13.37:g.72204797A>G						DACH1_ENST00000359684.2_Silent_p.A341A|DACH1_ENST00000354591.4_Intron|DACH1_ENST00000313174.7_Silent_p.A341A	p.A341A	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	3	1445	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	339			Interaction with SIX6 and HDAC3 (By similarity).		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Silent	SNP	ENST00000359684.2	37	c.1023T>C																																																																																					0.393	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		3	208	0	0	0	0.115264	0	3	208					G	72204797	A	G	72204797	2	3	205	1	0	0	0	0	0	0	0	1	4220	175	7	3		3	DACH1	13	72204797	Silent	SNP	A	TCGA-EL-A3D0-01A-12D-A202-08		72204797	42965081	25	4313											
LRRC16B	90668	broad.mit.edu	37	chr14	24538027	24538027	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctagctccatggcctccCaagccagtggctgtgcccag	11	16	1	0			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr14:24538027C>T	ENST00000342740.5	+	38	3988	c.3834C>T	c.(3832-3834)ccC>ccT	p.P1278P	CPNE6_ENST00000216775.2_5'Flank|CPNE6_ENST00000397016.2_5'Flank|LRRC16B_ENST00000334420.7_Silent_p.P331P|CPNE6_ENST00000537691.1_5'Flank	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1278						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CATGGCCTCCCAAGCCAGTGG	0.637																																						ENST00000342740.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52						c.(3832-3834)ccC>ccT		leucine rich repeat containing 16B							24	25	25					14																	24538027		2203	4300	6503	SO:0001819	synonymous_variant	90668							g.chr14:24538027C>T	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"chromosome 14 open reading frame 121"	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.3834C>T	14.37:g.24538027C>T						LRRC16B_ENST00000334420.7_Silent_p.P331P	p.P1278P	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	38	3988	+			1278					Q8TEF7|Q96HS9	Silent	SNP	ENST00000342740.5	37	c.3834C>T	CCDS32054.1																																																																																				0.637	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		9	32	0	0	0	0.069234	0	9	32					T	24538027	C	T	24538027	2	4	205	1	0	0	0	0	0	0	0	1	8972	581	21	2		2	LRRC16B	14	24538027	Silent	SNP	C	TCGA-EL-A3D0-01A-12D-A202-08		24538027	82811513	26	4314											
SNX22	79856	broad.mit.edu	37	chr15	64446698	64446698	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caccctgctcctctgccaccGatgccctgatcagtccagag	8	18	2	2	rs143435068	byFrequency	TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr15:64446698G>A	ENST00000325881.4	+	7	632	c.573G>A	c.(571-573)ccG>ccA	p.P191P	PPIB_ENST00000558492.1_5'Flank	NM_024798.2	NP_079074.2	Q96L94	SNX22_HUMAN	sorting nexin 22	191				P -> L (in Ref. 2; BAB14776). {ECO:0000305}.	protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			large_intestine(3)|lung(1)|urinary_tract(2)	6						CTCTGCCACCGATGCCCTGAT	0.572													G|||	2	0.000399361	0	0	5008	,	,		20483	0		0.002	False		,,,				2504	0					ENST00000325881.4																			0				large_intestine(3)|lung(1)|urinary_tract(2)	6						c.(571-573)ccG>ccA		sorting nexin 22		G		1,4405	2.1+/-5.4	0,1,2202	121	119	120		573	-5.4	0.0	15	dbSNP_134	120	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	SNX22	NM_024798.2		0,7,6496	AA,AG,GG		0.0698,0.0227,0.0538		191/194	64446698	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	79856				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr15:64446698G>A	AK024014	CCDS10190.1	15q22.1	2010-01-15			ENSG00000157734	ENSG00000157734		"Sorting nexins"	16315	protein-coding gene	gene with protein product						12461558, 17400918	Standard	NR_073534		Approved	FLJ13952	uc002anc.1	Q96L94	OTTHUMG00000132965	ENST00000325881.4:c.573G>A	15.37:g.64446698G>A							p.P191P	NM_024798.2	NP_079074.2	Q96L94	SNX22_HUMAN			7	632	+			191	P -> L (in Ref. 2; BAB14776).				Q8WUS9|Q9H844	Silent	SNP	ENST00000325881.4	37	c.573G>A	CCDS10190.1																																																																																				0.572	SNX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256524.2	NM_024798		129	134	0	0	0	0.139131	0	129	134					A	64446698	G	A	64446698	2	1	205	1	0	0	0	0	0	0	0	1	14894	1045	37	1		1	SNX22	15	64446698	Silent	SNP	G	TCGA-EL-A3D0-01A-12D-A202-08		64446698	38084694	27	4315											
PRSS53	339105	broad.mit.edu	37	chr16	31096483	31096483	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcctctgacaccagggctcCgccacaggccagctgtccct	9	19	1	1	rs375690216	byFrequency	TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr16:31096483C>A	ENST00000280606.6	-	7	1135	c.982G>T	c.(982-984)Gga>Tga	p.G328*		NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	328	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			large_intestine(1)|lung(3)	4						ACCAGGGCTCCGCCACAGGCC	0.667																																						ENST00000280606.6																			0				large_intestine(1)|lung(3)	4						c.(982-984)Gga>Tga		protease, serine, 53							23	28	26					16																	31096483		2091	4218	6309	SO:0001587	stop_gained	339105				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:31096483C>A		CCDS42153.1	16p11.2	2010-05-07			ENSG00000151006	ENSG00000151006		"Serine peptidases / Serine peptidases"	34407	protein-coding gene	gene with protein product	"polyserase 3"	610561				16566820	Standard	NM_001039503		Approved	POL3S	uc002eaq.3	Q2L4Q9	OTTHUMG00000047358	ENST00000280606.6:c.982G>T	16.37:g.31096483C>A	ENSP00000280606:p.Gly328*						p.G328*	NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN			7	1135	-			328			Peptidase S1 2.			Nonsense_Mutation	SNP	ENST00000280606.6	37	c.982G>T	CCDS42153.1	.	.	.	.	.	.	.	.	.	.	C	37	6.307282	0.97462	.	.	ENSG00000151006	ENST00000280606	.	.	.	5.75	5.75	0.90469	.	0.000000	0.36066	U	0.002812	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.7132	0.91666	0.0:1.0:0.0:0.0	.	.	.	.	X	328	.	ENSP00000280606:G328X	G	-	1	0	PRSS53	31003984	0.997000	0.39634	0.974000	0.42286	0.952000	0.60782	4.058000	0.57463	2.720000	0.93068	0.655000	0.94253	GGA		0.667	PRSS53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108580.4	NM_001081268		3	22	1	0	0.115264	0.115264	0.134883	3	22					A	31096483	C	A	31096483	4	1	205	1	0	0	0	0	0	1	0	0	12632	661	23	4	699	4	PRSS53	16	31096483	Nonsense_Mutation	SNP	C	TCGA-EL-A3D0-01A-12D-A202-08		31096483	59258270	28	4316											
KRTAP4-12	83755	broad.mit.edu	37	chr17	39279994	39279994	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagactggcagcactggggTctgcagcagctggacacaca	13	12	1	1			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr17:39279994T>C	ENST00000394014.1	-	1	425	c.381A>G	c.(379-381)agA>agG	p.R127R		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	127	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].		Missing (in allele KAP4.12-v1). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			agcactggggtctgcagcagc	0.667																																						ENST00000394014.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(379-381)agA>agG		keratin associated protein 4-12							19	26	23					17																	39279994		2126	4172	6298	SO:0001819	synonymous_variant	83755					keratin filament		g.chr17:39279994T>C	AJ406943	CCDS32649.1	17q21.2	2013-06-25			ENSG00000213416	ENSG00000213416		"Keratin associated proteins"	16776	protein-coding gene	gene with protein product						11279113	Standard	NM_031854		Approved	KAP4.12	uc002hwa.3	Q9BQ66	OTTHUMG00000133632	ENST00000394014.1:c.381A>G	17.37:g.39279994T>C							p.R127R	NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	425	-		Breast(137;0.000496)	127		Missing (in allele KAP4.12-v1).	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].		A3KMC5|Q495I0	Silent	SNP	ENST00000394014.1	37	c.381A>G	CCDS32649.1																																																																																				0.667	KRTAP4-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257777.1			4	81	0	0	0	0.009096	0	4	81					C	39279994	T	C	39279994	2	2	205	1	0	0	0	0	0	0	0	1	8550	1664	58	3		3	KRTAP4-12	17	39279994	Silent	SNP	T	TCGA-EL-A3D0-01A-12D-A202-08		39279994	41915216	29	4317											
ABCA5	23461	broad.mit.edu	37	chr17	67287453	67287453	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtaatctgaccctcatataTgtcaaatgacaaatctagtt	5	8	4	2			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr17:67287453T>C	ENST00000392676.3	-	12	1574	c.1510A>G	c.(1510-1512)Ata>Gta	p.I504V	ABCA5_ENST00000392677.2_Missense_Mutation_p.I504V|ABCA5_ENST00000588877.1_Missense_Mutation_p.I504V			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	504	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	CCCTCATATATGTCAAATGAC	0.363																																						ENST00000392676.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.(1510-1512)Ata>Gta		ATP-binding cassette, sub-family A (ABC1), member 5							80	76	78					17																	67287453		2203	4300	6503	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67287453T>C	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"ATP binding cassette transporters / subfamily A"	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.1510A>G	17.37:g.67287453T>C	ENSP00000376443:p.Ile504Val					ABCA5_ENST00000588877.1_Missense_Mutation_p.I504V|ABCA5_ENST00000392677.2_Missense_Mutation_p.I504V	p.I504V			Q8WWZ7	ABCA5_HUMAN			12	1574	-	Breast(10;3.72e-11)		504			ABC transporter 1.		Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.1510A>G	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.184989	0.57909	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.93604	-3.25;-3.25	5.56	5.56	0.83823	ABC transporter-like (1);	0.083145	0.50627	D	0.000104	D	0.86075	0.5846	N	0.12853	0.265	0.58432	D	0.999999	P;P	0.40794	0.729;0.657	B;B	0.37731	0.254;0.257	D	0.85839	0.1396	9	.	.	.	.	15.3665	0.74526	0.0:0.0:0.0:1.0	.	504;504	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	V	504	ENSP00000376444:I504V;ENSP00000376443:I504V	.	I	-	1	0	ABCA5	64799048	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	7.338000	0.79269	2.101000	0.63845	0.482000	0.46254	ATA		0.363	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		9	38	0	0	0	0.069234	0	9	38					C	67287453	T	C	67287453	3	2	205	1	0	0	0	0	1	0	0	0	35	1464	51	3	3530	3	ABCA5	17	67287453	Missense_Mutation	SNP	T	TCGA-EL-A3D0-01A-12D-A202-08	28007459	67287453	13907757	30	4318											
C19orf29	58509	broad.mit.edu	37	chr19	3612148	3612148	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggagcgcttgtcgatgaggtCggggtagaagatgttgaact	17	5	0	4			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr19:3612148C>A	ENST00000429344.2	-	10	2102	c.2050G>T	c.(2050-2052)Gac>Tac	p.D684Y	CACTIN_ENST00000248420.5_Missense_Mutation_p.D684Y|CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000221899.3_Missense_Mutation_p.D616Y	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit	684					cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										TCGATGAGGTCGGGGTAGAAG	0.592																																						ENST00000429344.2																			0											c.(2050-2052)Gac>Tac		cactin, spliceosome C complex subunit							145	165	158					19																	3612148		2144	4234	6378	SO:0001583	missense	58509							g.chr19:3612148C>A	BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298			29938	protein-coding gene	gene with protein product	"NY REN 24 antigen", "functional spliceosome-associated protein c", "cactin homolog (Drosophila)"		"chromosome 19 open reading frame 29"	C19orf29		8619474, 9110174, 21429463, 20829348	Standard	NM_001080543		Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.2050G>T	19.37:g.3612148C>A	ENSP00000415078:p.Asp684Tyr					CACTIN_ENST00000248420.5_Missense_Mutation_p.D684Y|CACTIN_ENST00000221899.3_Missense_Mutation_p.D616Y|CACTIN-AS1_ENST00000592274.1_RNA	p.D684Y	NM_001080543.1	NP_001074012.1					10	2102	-								A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	Missense_Mutation	SNP	ENST00000429344.2	37	c.2050G>T	CCDS45920.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543469	0.86022	.	.	ENSG00000105298	ENST00000429344;ENST00000248420;ENST00000221899	.	.	.	4.2	4.2	0.49525	Cactin protein, cactus-binding domain, C-terminal (1);	0.053048	0.64402	D	0.000001	D	0.84447	0.5474	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88229	0.2902	9	0.87932	D	0	.	15.6393	0.76984	0.0:1.0:0.0:0.0	.	684;684	Q8WUQ7-2;Q8WUQ7	.;CS029_HUMAN	Y	684;684;616	.	ENSP00000221899:D616Y	D	-	1	0	C19orf29	3563148	1.000000	0.71417	0.986000	0.45419	0.926000	0.56050	7.259000	0.78381	2.339000	0.79563	0.643000	0.83706	GAC		0.592	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457370.2			47	190	1	0	9.58827e-17	0.139131	1.22641e-16	47	190					A	3612148	C	A	3612148	3	1	205	1	0	0	0	0	1	0	0	0	1918	884	31	4	230	4	C19orf29	19	3612148	Missense_Mutation	SNP	C	TCGA-EL-A3D0-01A-12D-A202-08		3612148	55516835	31	4319											
FBN3	84467	broad.mit.edu	37	chr19	8196578	8196578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccccatagcaggtgctgCgcacgtgggtgtccacgcac	14	14	0	0			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr19:8196578C>T	ENST00000600128.1	-	15	2264	c.1850G>A	c.(1849-1851)cGc>cAc	p.R617H	FBN3_ENST00000270509.2_Missense_Mutation_p.R617H|FBN3_ENST00000601739.1_Missense_Mutation_p.R617H			Q75N90	FBN3_HUMAN	fibrillin 3	617						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCAGGTGCTGCGCACGTGGGT	0.677																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(1849-1851)cGc>cAc		fibrillin 3							46	44	45					19																	8196578		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8196578C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.1850G>A	19.37:g.8196578C>T	ENSP00000470498:p.Arg617His					FBN3_ENST00000601739.1_Missense_Mutation_p.R617H|FBN3_ENST00000270509.2_Missense_Mutation_p.R617H	p.R617H			Q75N90	FBN3_HUMAN			15	2264	-			617					Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.1850G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	14.74	2.626523	0.46840	.	.	ENSG00000142449	ENST00000270509	D	0.88046	-2.33	3.02	1.96	0.26148	Matrix fibril-associated (2);	0.000000	0.85682	U	0.000000	D	0.85435	0.5696	M	0.85630	2.765	0.40734	D	0.982779	B	0.29432	0.244	B	0.21151	0.033	T	0.80482	-0.1363	10	0.42905	T	0.14	.	9.7245	0.40324	0.0:0.8929:0.0:0.1071	.	617	Q75N90	FBN3_HUMAN	H	617	ENSP00000270509:R617H	ENSP00000270509:R617H	R	-	2	0	FBN3	8102578	1.000000	0.71417	0.646000	0.29493	0.065000	0.16274	4.003000	0.57061	0.252000	0.21531	0.185000	0.17295	CGC		0.677	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		14	62	0	0	0	0.105934	0	14	62					T	8196578	C	T	8196578	3	4	205	1	0	0	0	0	1	0	0	0	5704	768	27	1	6779	1	FBN3	19	8196578	Missense_Mutation	SNP	C	TCGA-EL-A3D0-01A-12D-A202-08	4584430	8196578	50932405	32	4320											
EHD2	30846	broad.mit.edu	37	chr19	48244668	48244668	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgccaccctccaagcgacgCcacaagggctccgccgagtg	12	17	0	0			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr19:48244668C>A	ENST00000263277.3	+	6	1862	c.1611C>A	c.(1609-1611)cgC>cgA	p.R537R	EHD2_ENST00000540884.1_3'UTR|EHD2_ENST00000538399.1_Silent_p.R401R	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	537	EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		CCAAGCGACGCCACAAGGGCT	0.716																																						ENST00000263277.3																			0				endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19						c.(1609-1611)cgC>cgA		EH-domain containing 2							10	11	11					19																	48244668		2192	4284	6476	SO:0001819	synonymous_variant	30846				blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding	g.chr19:48244668C>A	AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"EF-hand domain containing"	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.1611C>A	19.37:g.48244668C>A						EHD2_ENST00000538399.1_Silent_p.R401R|EHD2_ENST00000540884.1_3'UTR	p.R537R	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)	6	1862	+		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	537			EH.		B2RDH9|B4DNU6|Q96CB6	Silent	SNP	ENST00000263277.3	37	c.1611C>A	CCDS12704.1																																																																																				0.716	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465851.1			9	9	1	0	3.09899e-07	0.047766	3.78765e-07	9	9					A	48244668	C	A	48244668	2	1	205	1	0	0	0	0	0	0	0	1	4978	726	26	4		4	EHD2	19	48244668	Silent	SNP	C	TCGA-EL-A3D0-01A-12D-A202-08	40048090	48244668	10884315	33	4321											
MYBPC2	4606	broad.mit.edu	37	chr19	50957538	50957538	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagatgtcccagaccccccGgaggctgtgcgcatcacctc	11	17	1	2	rs558923030	byFrequency	TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr19:50957538G>A	ENST00000357701.5	+	18	1977	c.1926G>A	c.(1924-1926)ccG>ccA	p.P642P		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	642	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CAGACCCCCCGGAGGCTGTGC	0.647													g|||	7	0.00139776	0	0	5008	,	,		14805	0		0	False		,,,				2504	0.0072					ENST00000357701.5																			0				breast(1)	1						c.(1924-1926)ccG>ccA		myosin binding protein C, fast type							38	40	39					19																	50957538		1994	4154	6148	SO:0001819	synonymous_variant	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50957538G>A		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7550	protein-coding gene	gene with protein product	"fast-type muscle myosin-binding-protein C"	160793	"myosin-binding protein C, fast-type"			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.1926G>A	19.37:g.50957538G>A							p.P642P	NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	18	1977	+		all_neural(266;0.057)	642			Fibronectin type-III 1.		A1L4G9	Silent	SNP	ENST00000357701.5	37	c.1926G>A	CCDS46152.1																																																																																				0.647	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		6	65	0	0	0	0.021553	0	6	65					A	50957538	G	A	50957538	2	1	205	1	0	0	0	0	0	0	0	1	10012	1103	39	1		1	MYBPC2	19	50957538	Silent	SNP	G	TCGA-EL-A3D0-01A-12D-A202-08	2712870	50957538	8171445	34	4322											
SLC12A5	57468	broad.mit.edu	37	chr20	44666024	44666024	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaccatcgaaatcctgctGgtaagagaggctgaggagga	15	8	0	2			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr20:44666024G>A	ENST00000454036.2	+	6	730	c.681G>A	c.(679-681)ctG>ctA	p.L227L	SLC12A5_ENST00000372315.1_Splice_Site_p.L204L|SLC12A5_ENST00000243964.3_Splice_Site_p.L204L	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	227					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AAATCCTGCTGGTAAGAGAGG	0.582																																						ENST00000454036.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.e6+1		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						61	52	55					20																	44666024		2203	4300	6503	SO:0001630	splice_region_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44666024G>A	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.681+1G>A	20.37:g.44666024G>A						SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Splice_Site_p.L204_splice|SLC12A5_ENST00000372315.1_Splice_Site_p.L204_splice	p.L227_splice	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			6	757	+		Myeloproliferative disorder(115;0.0122)	227					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Splice_Site	SNP	ENST00000454036.2	37	c.681_splice	CCDS46610.1																																																																																				0.582	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1		Silent	3	37	0	0	0	0.115264	0	3	37					A	44666024	G	A	44666024	5	1	205	1	0	0	0	0	0	0	1	0	14386	1362	47	2	759	2	SLC12A5	20	44666024	Splice_Site	SNP	G	TCGA-EL-A3D0-01A-12D-A202-08		44666024	18359496	35	4323											
KRTAP10-5	386680	broad.mit.edu	37	chr21	45999781	45999781	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggcctgcatatggggcgGcagaggagggacacggagga	21	8	0	1			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr21:45999781G>A	ENST00000400372.1	-	1	700	c.675C>T	c.(673-675)tgC>tgT	p.C225C	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	225	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						ATATGGGGCGGCAGAGGAGGG	0.682																																						ENST00000400372.1																			0				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(673-675)tgC>tgT		keratin associated protein 10-5							69	80	76					21																	45999781		2203	4300	6503	SO:0001819	synonymous_variant	386680					keratin filament		g.chr21:45999781G>A	AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"Keratin associated proteins"	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.675C>T	21.37:g.45999781G>A						TSPEAR_ENST00000323084.4_Intron	p.C225C	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN			1	700	-			225			22 X 5 AA repeats of C-C-X(3).		Q0VAR7|Q0VAR8|Q70LJ3	Silent	SNP	ENST00000400372.1	37	c.675C>T	CCDS42958.1																																																																																				0.682	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1			4	165	0	0	0	0.014758	0	4	165					A	45999781	G	A	45999781	2	1	205	1	0	0	0	0	0	0	0	1	8512	1195	42	2		2	KRTAP10-5	21	45999781	Silent	SNP	G	TCGA-EL-A3D0-01A-12D-A202-08		45999781	2130114	36	4324											
BCOR	54880	broad.mit.edu	37	chrX	39923030	39923031	+	Frame_Shift_Ins	INS	-	-	T													tttgccggccaggtttgccaINStctgctgccgacacctgctg							TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chrX:39923030_39923031insT	ENST00000378444.4	-	8	3905_3906	c.3677_3678insA	c.(3676-3678)gatfs	p.D1226fs	BCOR_ENST00000397354.3_Frame_Shift_Ins_p.D1192fs|BCOR_ENST00000378455.4_Frame_Shift_Ins_p.D1174fs|BCOR_ENST00000342274.4_Frame_Shift_Ins_p.D1192fs|BCOR_ENST00000378463.1_Frame_Shift_Ins_p.D69fs	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1226					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CAGGTTTGCCATCTGCTGCCGA	0.54			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"F, N, S, T"	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"retinoblastoma, AML, APL(translocation)"		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(3574-3576)gggfs		BCL6 corepressor																																				SO:0001589	frameshift_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39923030_39923031insT	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.3678dupA	X.37:g.39923031_39923031dupT	ENSP00000367705:p.Asp1226fs					BCOR_ENST00000397354.3_Frame_Shift_Ins_p.G1192fs|BCOR_ENST00000378455.4_Frame_Shift_Ins_p.G1174fs|BCOR_ENST00000378444.4_Frame_Shift_Ins_p.G1226fs|BCOR_ENST00000378463.1_Frame_Shift_Ins_p.G69fs	p.G1192fs	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			8	3937_3938	-			1226					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Frame_Shift_Ins	INS	ENST00000378444.4	37	c.3575_3576insA	CCDS48093.1																																																																																				0.54	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		59	42						59	42	---	---	---	---	T	39923031	-	T	39923030	7	5	205	1	0	1	1	0	0	0	0	0	1386	214	8	0	1621	0	BCOR	23	39923030	Frame_Shift_Ins	INS	-	TCGA-EL-A3D0-01A-12D-A202-08		39923030	115347530	37	4325											
KRCC1	51315	broad.mit.edu	37	chr2	88327387	88327387	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttcttttttgtacgcttAcgttcctctttcttagagac	5	9	3	1	rs12999878		TCGA-EL-A3D1-01A-11D-A19J-08	TCGA-EL-A3D1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d173b533-5eae-46e3-b624-9fa47623fb54	941d8f35-a642-4478-b457-e05547d484bc	g.chr2:88327387A>G	ENST00000347055.3	-	4	1089	c.696T>C	c.(694-696)cgT>cgC	p.R232R		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	232	Lys-rich.									cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						TTGTACGCTTACGTTCCTCTT	0.393													A|||	1	0.000199681	0	0	5008	,	,		17482	0		0.001	False		,,,				2504	0					ENST00000347055.3																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(694-696)cgT>cgC		lysine-rich coiled-coil 1		A		0,4406		0,0,2203	143	151	148		696	-1.2	1.0	2	dbSNP_121	148	18,8582	14.0+/-48.4	0,18,4282	no	coding-synonymous	KRCC1	NM_016618.1		0,18,6485	GG,GA,AA		0.2093,0.0,0.1384		232/260	88327387	18,12988	2203	4300	6503	SO:0001819	synonymous_variant	51315							g.chr2:88327387A>G	AF208845	CCDS2000.1	2p11.2	2008-02-05			ENSG00000172086	ENSG00000172086			28039	protein-coding gene	gene with protein product						12477932	Standard	XM_005264360		Approved	FLJ22333	uc002sso.1	Q9NPI7	OTTHUMG00000130315	ENST00000347055.3:c.696T>C	2.37:g.88327387A>G							p.R232R	NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN			4	1089	-			232			Lys-rich.		Q3B7J7	Silent	SNP	ENST00000347055.3	37	c.696T>C	CCDS2000.1																																																																																				0.393	KRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252664.1	NM_016618		7	143	0	0	0	1	0	7	143					G	88327387	A	G	88327387	2	3	206	1	0	0	0	0	0	0	0	1	8441	378	14	3		3	KRCC1	2	88327387	Silent	SNP	A	TCGA-EL-A3D1-01A-11D-A19J-08		88327387	154871986	1	4326											
IL7R	3575	broad.mit.edu	37	chr5	35876286	35876286	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtagtcatcactccagaaAgctttggaagagattcatcc	8	9	3	2			TCGA-EL-A3D1-01A-11D-A19J-08	TCGA-EL-A3D1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d173b533-5eae-46e3-b624-9fa47623fb54	941d8f35-a642-4478-b457-e05547d484bc	g.chr5:35876286A>G	ENST00000303115.3	+	8	1207	c.1078A>G	c.(1078-1080)Agc>Ggc	p.S360G	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	360					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CACTCCAGAAAGCTTTGGAAG	0.527			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency																															ENST00000303115.3				Dom	yes		5	5p13	146661	"Mis, O"	interleukin 7 receptor	yes	Severe combined immune deficiency	L			"ALL, ETP ALL"		0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126						c.(1078-1080)Agc>Ggc		interleukin 7 receptor							86	82	84					5																	35876286		2203	4300	6503	SO:0001583	missense	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35876286A>G	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.1078A>G	5.37:g.35876286A>G	ENSP00000306157:p.Ser360Gly					IL7R_ENST00000343305.4_3'UTR	p.S360G	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		8	1207	+	all_lung(31;0.00015)		360					B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	37	c.1078A>G	CCDS3911.1	.	.	.	.	.	.	.	.	.	.	A	7.614	0.675414	0.14841	.	.	ENSG00000168685	ENST00000303115;ENST00000505875	T;T	0.33216	1.76;1.42	5.6	2.9	0.33743	.	0.711927	0.13666	N	0.371248	T	0.15132	0.0365	N	0.08118	0	0.29299	N	0.868836	B	0.17038	0.02	B	0.14023	0.01	T	0.12426	-1.0548	10	0.44086	T	0.13	-12.2223	7.1388	0.25543	0.797:0.0:0.203:0.0	.	360	P16871	IL7RA_HUMAN	G	360;126	ENSP00000306157:S360G;ENSP00000420923:S126G	ENSP00000306157:S360G	S	+	1	0	IL7R	35912043	0.024000	0.19004	0.577000	0.28562	0.053000	0.15095	0.294000	0.19047	0.949000	0.37715	0.533000	0.62120	AGC		0.527	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			28	40	0	0	0	1	0	28	40					G	35876286	A	G	35876286	3	3	206	1	0	0	0	0	1	0	0	0	7705	72	3	3	1108	3	IL7R	5	35876286	Missense_Mutation	SNP	A	TCGA-EL-A3D1-01A-11D-A19J-08		35876286	145038974	2	4327											
GIGYF1	64599	broad.mit.edu	37	chr7	100280993	100280994	+	Frame_Shift_Del	DEL	GC	GC	-													tcctcctgctgctgctggcgGcgcttctcctctcgacgctt					rs202101717		TCGA-EL-A3D1-01A-11D-A19J-08	TCGA-EL-A3D1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d173b533-5eae-46e3-b624-9fa47623fb54	941d8f35-a642-4478-b457-e05547d484bc	g.chr7:100280993_100280994delGC	ENST00000275732.5	-	18	3335_3336	c.2126_2127delGC	c.(2125-2127)cgcfs	p.R710fs	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	710					insulin-like growth factor receptor signaling pathway (GO:0048009)			p.R428H(1)|p.R709H(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GCTGCTGGCGGCGCTTCTCCTC	0.649																																						ENST00000275732.5																			2	Substitution - Missense(2)	p.R428H(1)|p.R709H(1)	prostate(2)	central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(2125-2127)cfs		GRB10 interacting GYF protein 1																																				SO:0001589	frameshift_variant	64599							g.chr7:100280993_100280994delGC	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"GYF domain containing 1"	612064	"PERQ amino acid rich, with GYF domain 1"	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.2126_2127delGC	7.37:g.100280995_100280996delGC	ENSP00000275732:p.Arg710fs						p.R710fs	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			18	3335_3336	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		710					Q6Y7W7|Q8WZ38	Frame_Shift_Del	DEL	ENST00000275732.5	37	c.2126_2127delGC	CCDS34708.1																																																																																				0.649	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		83	138						83	138	---	---	---	---	-	100280994	GC	-	100280993	7	5	206	1	0	1	0	1	0	0	0	0	6377	1190	42	0	1008	0	GIGYF1	7	100280993	Frame_Shift_Del	DEL	GC	TCGA-EL-A3D1-01A-11D-A19J-08		100280993	58857670	3	4328											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3D1-01A-11D-A19J-08	TCGA-EL-A3D1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d173b533-5eae-46e3-b624-9fa47623fb54	941d8f35-a642-4478-b457-e05547d484bc	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		40	48	0	0	0	1	0	40	48					T	140453136	A	T	140453136	3	4	206	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3D1-01A-11D-A19J-08	40172143	140453136	18685527	4	4329											
ABCA2	20	broad.mit.edu	37	chr9	139914928	139914928	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcatgttgccccgccgcaGcgcctcgggttcaatggtgc	13	15	2	0			TCGA-EL-A3D1-01A-11D-A19J-08	TCGA-EL-A3D1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d173b533-5eae-46e3-b624-9fa47623fb54	941d8f35-a642-4478-b457-e05547d484bc	g.chr9:139914928G>A	ENST00000371605.3	-	9	1429	c.1282C>T	c.(1282-1284)Ctg>Ttg	p.L428L	ABCA2_ENST00000341511.6_Silent_p.L429L|ABCA2_ENST00000265662.5_Silent_p.L429L|ABCA2_ENST00000492260.1_5'UTR			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	428					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCCCGCCGCAGCGCCTCGGGT	0.682																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(1285-1287)Ctg>Ttg		ATP-binding cassette, sub-family A (ABC1), member 2							35	47	43					9																	139914928		2069	4184	6253	SO:0001819	synonymous_variant	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139914928G>A	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.1282C>T	9.37:g.139914928G>A						ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000371605.3_Silent_p.L428L|ABCA2_ENST00000341511.6_Silent_p.L429L	p.L429L			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	10	1432	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	428					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	37	c.1285C>T		.	.	.	.	.	.	.	.	.	.	G	10.12	1.262715	0.23051	.	.	ENSG00000107331	ENST00000470535	T	0.54279	0.58	4.64	3.73	0.42828	.	.	.	.	.	T	0.62563	0.2438	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63088	-0.6715	6	0.46703	T	0.11	.	13.0183	0.58771	0.0803:0.0:0.9197:0.0	.	.	.	.	V	39	ENSP00000420289:A39V	ENSP00000420289:A39V	A	-	2	0	ABCA2	139034749	1.000000	0.71417	0.329000	0.25429	0.880000	0.50808	3.076000	0.50081	0.915000	0.36847	0.462000	0.41574	GCT		0.682	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		13	38	0	0	0	1	0	13	38					A	139914928	G	A	139914928	2	1	206	1	0	0	0	0	0	0	0	1	32	962	34	2		2	ABCA2	9	139914928	Silent	SNP	G	TCGA-EL-A3D1-01A-11D-A19J-08		139914928	1298503	5	4330											
LYZ	4069	broad.mit.edu	37	chr12	69743921	69743921	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caaatgggagagtggttacaAcacacgagctacaaactaca	9	9	0	1			TCGA-EL-A3D1-01A-11D-A19J-08	TCGA-EL-A3D1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d173b533-5eae-46e3-b624-9fa47623fb54	941d8f35-a642-4478-b457-e05547d484bc	g.chr12:69743921A>T	ENST00000261267.2	+	2	238	c.170A>T	c.(169-171)aAc>aTc	p.N57I	LYZ_ENST00000548839.1_Missense_Mutation_p.N57I|LYZ_ENST00000549690.1_Missense_Mutation_p.N57I	NM_000239.2	NP_000230.1	P61626	LYSC_HUMAN	lysozyme	57					cell wall macromolecule catabolic process (GO:0016998)|cytolysis (GO:0019835)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|retina homeostasis (GO:0001895)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|lysozyme activity (GO:0003796)			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)		L-Aspartic Acid(DB00128)	AGTGGTTACAACACACGAGCT	0.398																																						ENST00000261267.2																			0				endometrium(2)|lung(1)|upper_aerodigestive_tract(1)	4						c.(169-171)aAc>aTc		lysozyme							133	120	125					12																	69743921		2203	4300	6503	SO:0001583	missense	4069				cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response	extracellular space	lysozyme activity|protein binding	g.chr12:69743921A>T	X14008	CCDS8989.1	12q15	2014-09-17	2010-04-29			ENSG00000090382	3.2.1.17		6740	protein-coding gene	gene with protein product	"renal amyloidosis"	153450	"lysozyme (renal amyloidosis)"			8464497, 2546758	Standard	NM_000239		Approved		uc001suw.2	P61626	OTTHUMG00000169342	ENST00000261267.2:c.170A>T	12.37:g.69743921A>T	ENSP00000261267:p.Asn57Ile					LYZ_ENST00000548839.1_Missense_Mutation_p.N57I|LYZ_ENST00000549690.1_Missense_Mutation_p.N57I	p.N57I	NM_000239.2	NP_000230.1	P61626	LYSC_HUMAN	Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)		2	238	+	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		57					P00695|Q13170|Q9UCF8	Missense_Mutation	SNP	ENST00000261267.2	37	c.170A>T	CCDS8989.1	.	.	.	.	.	.	.	.	.	.	A	14.16	2.451163	0.43531	.	.	ENSG00000090382	ENST00000261267;ENST00000549690;ENST00000548839	T;T;T	0.80214	-1.35;-1.35;-1.35	5.94	5.94	0.96194	Lysozyme-like domain (1);	0.250666	0.45126	D	0.000383	D	0.91656	0.7363	M	0.93808	3.46	0.46927	D	0.999251	D	0.58970	0.984	D	0.66084	0.941	D	0.93516	0.6857	9	.	.	.	.	14.3596	0.66761	1.0:0.0:0.0:0.0	.	57	P61626	LYSC_HUMAN	I	57	ENSP00000261267:N57I;ENSP00000449898:N57I;ENSP00000449969:N57I	.	N	+	2	0	LYZ	68030188	0.987000	0.35691	0.306000	0.25113	0.039000	0.13416	4.463000	0.60128	2.275000	0.75901	0.528000	0.53228	AAC		0.398	LYZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403624.2	NM_000239		38	50	0	0	0	1	0	38	50					T	69743921	A	T	69743921	3	4	206	1	0	0	0	0	1	0	0	0	9130	43	2	5	176	5	LYZ	12	69743921	Missense_Mutation	SNP	A	TCGA-EL-A3D1-01A-11D-A19J-08		69743921	64107974	6	4331											
PCCA	5095	broad.mit.edu	37	chr13	100915074	100915074	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttattgataatcctcgtcatAtagaaatccaggttggtaca	7	7	1	2			TCGA-EL-A3D1-01A-11D-A19J-08	TCGA-EL-A3D1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d173b533-5eae-46e3-b624-9fa47623fb54	941d8f35-a642-4478-b457-e05547d484bc	g.chr13:100915074A>T	ENST00000376285.1	+	10	846	c.808A>T	c.(808-810)Ata>Tta	p.I270L	PCCA_ENST00000376286.4_Missense_Mutation_p.I244L|PCCA_ENST00000376279.3_Missense_Mutation_p.I270L	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	270	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	TCCTCGTCATATAGAAATCCA	0.284																																						ENST00000376285.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26						c.(808-810)Ata>Tta		propionyl CoA carboxylase, alpha polypeptide	Biotin(DB00121)						93	108	103					13																	100915074		2198	4299	6497	SO:0001583	missense	5095				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity	g.chr13:100915074A>T	X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"propionyl Coenzyme A carboxylase, alpha polypeptide"			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.808A>T	13.37:g.100915074A>T	ENSP00000365462:p.Ile270Leu					PCCA_ENST00000376279.3_Missense_Mutation_p.I270L|PCCA_ENST00000376286.4_Missense_Mutation_p.I244L	p.I270L	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN			10	846	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		270			ATP-grasp.|Biotin carboxylation.		B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Missense_Mutation	SNP	ENST00000376285.1	37	c.808A>T	CCDS9496.2	.	.	.	.	.	.	.	.	.	.	A	17.19	3.326205	0.60743	.	.	ENSG00000175198	ENST00000376286;ENST00000376279;ENST00000376285	D;D;D	0.97791	-4.54;-4.54;-4.54	5.23	4.03	0.46877	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.048193	0.85682	D	0.000000	D	0.97773	0.9269	M	0.91612	3.225	0.58432	D	0.999998	B;B;B	0.16603	0.018;0.014;0.018	B;B;B	0.34093	0.175;0.109;0.175	D	0.98208	1.0471	10	0.87932	D	0	.	11.1191	0.48277	0.9257:0.0:0.0743:0.0	.	270;244;270	C9JPQ8;P05165-2;P05165	.;.;PCCA_HUMAN	L	244;270;270	ENSP00000365463:I244L;ENSP00000365456:I270L;ENSP00000365462:I270L	ENSP00000365456:I270L	I	+	1	0	PCCA	99713075	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.797000	0.75150	1.956000	0.56807	0.533000	0.62120	ATA		0.284	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045627.2			9	202	0	0	0	1	0	9	202					T	100915074	A	T	100915074	3	4	206	1	0	0	0	0	1	0	0	0	11504	449	16	5	846	5	PCCA	13	100915074	Missense_Mutation	SNP	A	TCGA-EL-A3D1-01A-11D-A19J-08		100915074	14254804	7	4332											
KCNJ16	3773	broad.mit.edu	37	chr17	68129292	68129292	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagctccacatagaaaAagcaccaccagttcgagaat	7	13	0	2			TCGA-EL-A3D1-01A-11D-A19J-08	TCGA-EL-A3D1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d173b533-5eae-46e3-b624-9fa47623fb54	941d8f35-a642-4478-b457-e05547d484bc	g.chr17:68129292A>G	ENST00000589377.1	+	2	1227	c.1064A>G	c.(1063-1065)aAa>aGa	p.K355R	KCNJ16_ENST00000392671.1_Missense_Mutation_p.K355R|KCNJ16_ENST00000392670.1_Missense_Mutation_p.K355R|KCNJ16_ENST00000283936.1_Missense_Mutation_p.K355R|KCNJ16_ENST00000585558.1_Missense_Mutation_p.K390R|KCNJ16_ENST00000586462.1_Missense_Mutation_p.K394R	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	355					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					CACATAGAAAAAGCACCACCA	0.493																																						ENST00000585558.1																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						c.(1168-1170)aAa>aGa		potassium inwardly-rectifying channel, subfamily J, member 16							110	98	102					17																	68129292		2203	4300	6503	SO:0001583	missense	3773				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr17:68129292A>G	AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.1064A>G	17.37:g.68129292A>G	ENSP00000465967:p.Lys355Arg					KCNJ16_ENST00000589377.1_Missense_Mutation_p.K355R|KCNJ16_ENST00000586462.1_Missense_Mutation_p.K394R|KCNJ16_ENST00000283936.1_Missense_Mutation_p.K355R|KCNJ16_ENST00000392671.1_Missense_Mutation_p.K355R|KCNJ16_ENST00000392670.1_Missense_Mutation_p.K355R	p.K390R			Q9NPI9	IRK16_HUMAN			4	1557	+	Breast(10;2.96e-09)		355						Missense_Mutation	SNP	ENST00000589377.1	37	c.1169A>G	CCDS11687.1	.	.	.	.	.	.	.	.	.	.	A	1.723	-0.496195	0.04291	.	.	ENSG00000153822	ENST00000283936;ENST00000392671;ENST00000392670	D;D;D	0.89196	-2.48;-2.48;-2.48	5.79	4.72	0.59763	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	2.184120	0.01556	N	0.019888	D	0.83727	0.5317	L	0.29908	0.895	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.12837	0.008;0.001	T	0.66528	-0.5901	9	.	.	.	.	5.6571	0.17648	0.708:0.1445:0.1474:0.0	.	355;355	A8K434;Q9NPI9	.;IRK16_HUMAN	R	355	ENSP00000283936:K355R;ENSP00000376439:K355R;ENSP00000376438:K355R	.	K	+	2	0	KCNJ16	65640887	0.880000	0.30214	0.012000	0.15200	0.001000	0.01503	2.408000	0.44574	1.021000	0.39600	0.477000	0.44152	AAA		0.493	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1	NM_018658		5	83	0	0	0	1	0	5	83					G	68129292	A	G	68129292	3	3	206	1	0	0	0	0	1	0	0	0	8050	14	1	3	1066	3	KCNJ16	17	68129292	Missense_Mutation	SNP	A	TCGA-EL-A3D1-01A-11D-A19J-08		68129292	13065918	8	4333											
ATAD3A	55210	broad.mit.edu	37	chr1	1455665	1455665	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcggccgagcaccgtcAgaccgtcttggagtccatca	13	13	3	1			TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr1:1455665A>G	ENST00000378755.5	+	6	897	c.803A>G	c.(802-804)cAg>cGg	p.Q268R	ATAD3A_ENST00000378756.3_Missense_Mutation_p.Q220R|ATAD3A_ENST00000536055.1_Missense_Mutation_p.Q141R	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	268					cell growth (GO:0016049)|negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	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;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		GAGCACCGTCAGACCGTCTTG	0.706																																						ENST00000378755.5																			0				endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(802-804)cAg>cGg		ATPase family, AAA domain containing 3A							56	53	54					1																	1455665		2202	4300	6502	SO:0001583	missense	55210						ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr1:1455665A>G	AK025865	CCDS31.1, CCDS53259.1, CCDS53260.1	1p36.33	2010-04-21		2007-02-08	ENSG00000197785	ENSG00000197785		"ATPases / AAA-type"	25567	protein-coding gene	gene with protein product		612316				12477932	Standard	NM_018188		Approved	FLJ10709	uc001afz.2	Q9NVI7	OTTHUMG00000000575	ENST00000378755.5:c.803A>G	1.37:g.1455665A>G	ENSP00000368030:p.Gln268Arg					ATAD3A_ENST00000378756.3_Missense_Mutation_p.Q220R|ATAD3A_ENST00000536055.1_Missense_Mutation_p.Q141R	p.Q268R	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)	6	897	+	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)	268					B3KPB3|D2K8Q1|G3V1I6|Q5SV23|Q8N275|Q96A50	Missense_Mutation	SNP	ENST00000378755.5	37	c.803A>G	CCDS31.1	.	.	.	.	.	.	.	.	.	.	-	11.81	1.750240	0.30955	.	.	ENSG00000197785	ENST00000378756;ENST00000378755;ENST00000536055;ENST00000429957	T;T;D	0.94417	3.2;1.49;-3.42	4.28	4.28	0.50868	ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523 (1);	0.000000	0.85682	D	0.000000	D	0.91164	0.7217	L	0.47716	1.5	0.53005	D	0.999963	P;B	0.43352	0.804;0.436	B;B	0.39299	0.296;0.222	D	0.90213	0.4266	10	0.37606	T	0.19	.	12.8702	0.57960	1.0:0.0:0.0:0.0	.	220;268	D2K8Q1;Q9NVI7	.;ATD3A_HUMAN	R	220;268;141;102	ENSP00000368031:Q220R;ENSP00000368030:Q268R;ENSP00000439290:Q141R	ENSP00000368030:Q268R	Q	+	2	0	ATAD3A	1445528	1.000000	0.71417	1.000000	0.80357	0.114000	0.19823	8.667000	0.91153	1.689000	0.51079	0.459000	0.35465	CAG		0.706	ATAD3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000001365.1	NM_018188		5	37	0	0	0	1	0	5	37					G	1455665	A	G	1455665	3	3	207	1	0	0	0	0	1	0	0	0	1073	188	7	3	825	3	ATAD3A	1	1455665	Missense_Mutation	SNP	A	TCGA-EL-A3D4-01A-11D-A19J-08		1455665	247794956	1	4334											
ITGA10	8515	broad.mit.edu	37	chr1	145536012	145536012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcagacatgaggttcaccGcatcactggatgaatggact	10	9	3	3	rs35515885	byFrequency	TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr1:145536012G>A	ENST00000369304.3	+	17	2279	c.2104G>A	c.(2104-2106)Gca>Aca	p.A702T	ITGA10_ENST00000539363.1_Missense_Mutation_p.A559T|ITGA10_ENST00000538811.1_Missense_Mutation_p.A571T	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	702			A -> T (in dbSNP:rs35515885).		axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)	p.A702S(1)|p.A702T(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GAGGTTCACCGCATCACTGGA	0.542													G|||	22	0.00439297	0.0076	0.0086	5008	,	,		22579	0		0.006	False		,,,				2504	0					ENST00000369304.3																			2	Substitution - Missense(2)	p.A702S(1)|p.A702T(1)	lung(1)|kidney(1)	NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(2104-2106)Gca>Aca		integrin, alpha 10		G	THR/ALA	21,4385	27.2+/-55.0	0,21,2182	148	139	142		2104	5.3	1.0	1	dbSNP_126	142	49,8551	31.2+/-83.2	0,49,4251	yes	missense	ITGA10	NM_003637.3	58	0,70,6433	AA,AG,GG		0.5698,0.4766,0.5382	probably-damaging	702/1168	145536012	70,12936	2203	4300	6503	SO:0001583	missense	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145536012G>A	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"Integrins"	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.2104G>A	1.37:g.145536012G>A	ENSP00000358310:p.Ala702Thr					ITGA10_ENST00000538811.1_Missense_Mutation_p.A571T|ITGA10_ENST00000539363.1_Missense_Mutation_p.A559T	p.A702T	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN			17	2279	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		702		A -> T (in dbSNP:rs35515885).			B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	c.2104G>A	CCDS918.1	10	0.004578754578754579	3	0.006097560975609756	4	0.011049723756906077	0	0.0	3	0.00395778364116095	G	18.28	3.588968	0.66105	0.004766	0.005698	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.50277	0.75;0.75;0.75	5.28	5.28	0.74379	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	T	0.50120	0.1597	L	0.49126	1.545	0.48185	D	0.9996	D;D;D;D	0.89917	0.999;0.968;1.0;0.999	D;P;D;D	0.78314	0.942;0.454;0.991;0.966	T	0.47509	-0.9112	10	0.40728	T	0.16	.	9.7673	0.40567	0.091:0.0:0.909:0.0	rs35515885	668;571;559;702	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	T	702;668;559;571	ENSP00000358310:A702T;ENSP00000439894:A559T;ENSP00000440011:A571T	ENSP00000358310:A702T	A	+	1	0	ITGA10	144247369	0.978000	0.34361	0.995000	0.50966	0.525000	0.34531	3.430000	0.52807	2.748000	0.94277	0.462000	0.41574	GCA		0.542	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		7	160	0	0	0	1	0	7	160					A	145536012	G	A	145536012	3	1	207	1	0	0	0	0	1	0	0	0	7873	1087	38	1	2170	1	ITGA10	1	145536012	Missense_Mutation	SNP	G	TCGA-EL-A3D4-01A-11D-A19J-08	144080347	145536012	103714609	2	4335											
RBM15B	29890	broad.mit.edu	37	chr3	51429678	51429678	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccgtgcccgtcacgccgCcgcagccttcgccctggatg	12	20	1	0			TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr3:51429678C>T	ENST00000323686.4	+	1	948	c.848C>T	c.(847-849)gCc>gTc	p.A283V		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	283					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		cgtcacgccgccgcagccttc	0.746																																						ENST00000323686.4																			0				endometrium(4)|large_intestine(5)|lung(3)	12						c.(847-849)gCc>gTc		RNA binding motif protein 15B							8	9	9					3																	51429678		2124	4175	6299	SO:0001583	missense	29890				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr3:51429678C>T	AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"RNA binding motif (RRM) containing"	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.848C>T	3.37:g.51429678C>T	ENSP00000313890:p.Ala283Val						p.A283V	NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	948	+			283					A4QPG7|Q6QE19|Q9BV96	Missense_Mutation	SNP	ENST00000323686.4	37	c.848C>T	CCDS33764.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656182	0.47467	.	.	ENSG00000179837	ENST00000323686	T	0.16073	2.37	4.65	4.65	0.58169	.	.	.	.	.	T	0.14184	0.0343	N	0.20986	0.625	0.40999	D	0.984917	B	0.18461	0.028	B	0.13407	0.009	T	0.07083	-1.0791	9	0.36615	T	0.2	.	17.9111	0.88934	0.0:1.0:0.0:0.0	.	283	Q8NDT2	RB15B_HUMAN	V	283	ENSP00000313890:A283V	ENSP00000313890:A283V	A	+	2	0	RBM15B	51404718	0.841000	0.29509	0.782000	0.31804	0.672000	0.39443	3.404000	0.52623	2.302000	0.77476	0.561000	0.74099	GCC		0.746	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286		4	12	0	0	0	1	0	4	12					T	51429678	C	T	51429678	3	4	207	1	0	0	0	0	1	0	0	0	13117	739	26	2	850	2	RBM15B	3	51429678	Missense_Mutation	SNP	C	TCGA-EL-A3D4-01A-11D-A19J-08		51429678	146592752	3	4336											
MAML3	55534	broad.mit.edu	37	chr4	140811123	140811123	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgTtgctgttgctgtttctgctg	13	10	1	0	rs62344939		TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr4:140811123T>C	ENST00000509479.2	-	2	2323	c.1467A>G	c.(1465-1467)caA>caG	p.Q489Q	MAML3_ENST00000327122.5_Silent_p.Q333Q|MAML3_ENST00000398940.1_Silent_p.Q28Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgttgctgttgct	0.547																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1465-1467)caA>caG		mastermind-like 3 (Drosophila)							17	20	19					4																	140811123		2193	4294	6487	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811123T>C	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1467A>G	4.37:g.140811123T>C						MAML3_ENST00000398940.1_Silent_p.Q28Q|MAML3_ENST00000327122.5_Silent_p.Q333Q	p.Q489Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2323	-	all_hematologic(180;0.162)		489			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1467A>G	CCDS54805.1																																																																																				0.547	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			4	54	0	0	0	1	0	4	54					C	140811123	T	C	140811123	2	2	207	1	0	0	0	0	0	0	0	1	9207	1722	60	3		3	MAML3	4	140811123	Silent	SNP	T	TCGA-EL-A3D4-01A-11D-A19J-08		140811123	50343153	4	4337											
OR2B2	81697	broad.mit.edu	37	chr6	27879286	27879286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaagagagaaaccatctttCcccggtctttggagctgggt	12	9	2	3			TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr6:27879286C>T	ENST00000303324.2	-	1	888	c.812G>A	c.(811-813)gGa>gAa	p.G271E		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						AACCATCTTTCCCCGGTCTTT	0.443																																						ENST00000303324.2																			0				cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						c.(811-813)gGa>gAa		olfactory receptor, family 2, subfamily B, member 2							83	79	80					6																	27879286		2203	4300	6503	SO:0001583	missense	81697				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27879286C>T	Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"GPCR / Class A : Olfactory receptors"	13966	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily B, member 9"	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.812G>A	6.37:g.27879286C>T	ENSP00000304419:p.Gly271Glu						p.G271E	NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN			1	888	-			271					B2RNH2|Q9GZL2|Q9Y299	Missense_Mutation	SNP	ENST00000303324.2	37	c.812G>A	CCDS4641.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.505405	0.26949	.	.	ENSG00000168131	ENST00000303324	T	0.00058	8.79	4.42	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38778	U	0.001569	T	0.00144	0.0004	L	0.46885	1.475	0.09310	N	1	D	0.56746	0.977	P	0.60541	0.876	T	0.19095	-1.0316	10	0.87932	D	0	.	9.0305	0.36256	0.0:0.8951:0.0:0.1049	.	271	Q9GZK3	OR2B2_HUMAN	E	271	ENSP00000304419:G271E	ENSP00000304419:G271E	G	-	2	0	OR2B2	27987265	0.000000	0.05858	0.990000	0.47175	0.255000	0.26057	-0.005000	0.12855	2.371000	0.80710	0.563000	0.77884	GGA		0.443	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1			5	84	0	0	0	1	0	5	84					T	27879286	C	T	27879286	3	4	207	1	0	0	0	0	1	0	0	0	10989	855	30	2	265	2	OR2B2	6	27879286	Missense_Mutation	SNP	C	TCGA-EL-A3D4-01A-11D-A19J-08		27879286	143235781	5	4338											
ERMP1	79956	broad.mit.edu	37	chr9	5812998	5812998	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaagggtgtttagctgcTgaaacataagcttgaaccaa	10	7	0	2			TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr9:5812998T>C	ENST00000339450.5	-	5	1001	c.912A>G	c.(910-912)tcA>tcG	p.S304S	ERMP1_ENST00000543230.1_5'Flank|ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_Silent_p.S80S	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	304						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)		GTTTAGCTGCTGAAACATAAG	0.388																																						ENST00000339450.5																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20						c.(910-912)tcA>tcG		endoplasmic reticulum metallopeptidase 1							108	99	102					9																	5812998		2203	4300	6503	SO:0001819	synonymous_variant	79956				proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity	g.chr9:5812998T>C	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.912A>G	9.37:g.5812998T>C						ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_Silent_p.S80S	p.S304S	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)	5	1001	-		Acute lymphoblastic leukemia(23;0.158)	304					B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Silent	SNP	ENST00000339450.5	37	c.912A>G	CCDS34983.1																																																																																				0.388	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		37	51	0	0	0	1	0	37	51					C	5812998	T	C	5812998	2	2	207	1	0	0	0	0	0	0	0	1	5236	1567	55	3		3	ERMP1	9	5812998	Silent	SNP	T	TCGA-EL-A3D4-01A-11D-A19J-08		5812998	135400433	6	4339											
OR1N1	138883	broad.mit.edu	37	chr9	125288964	125288964	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaaggggacgatgagtacGgtgcctcccaagacaaaaac	11	9	0	2			TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr9:125288964G>A	ENST00000304880.2	-	1	608	c.609C>T	c.(607-609)acC>acT	p.T203T		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CGATGAGTACGGTGCCTCCCA	0.507																																						ENST00000304880.2																			0				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(607-609)acC>acT		olfactory receptor, family 1, subfamily N, member 1							85	76	79					9																	125288964		2203	4300	6503	SO:0001819	synonymous_variant	138883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125288964G>A	U86216	CCDS6844.1	9q34.11	2012-08-09			ENSG00000171505	ENSG00000171505		"GPCR / Class A : Olfactory receptors"	8221	protein-coding gene	gene with protein product				OR1N3		9500546	Standard	NM_012363		Approved	OR1-26	uc004bmn.1	Q8NGS0	OTTHUMG00000020608	ENST00000304880.2:c.609C>T	9.37:g.125288964G>A							p.T203T	NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN			1	608	-			203					A3KFM1|O43870|Q6IF16|Q96R93	Silent	SNP	ENST00000304880.2	37	c.609C>T	CCDS6844.1																																																																																				0.507	OR1N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053938.1			7	41	0	0	0	1	0	7	41					A	125288964	G	A	125288964	2	1	207	1	0	0	0	0	0	0	0	1	10969	1103	39	1		1	OR1N1	9	125288964	Silent	SNP	G	TCGA-EL-A3D4-01A-11D-A19J-08	119475966	125288964	15924467	7	4340											
SYCE1	93426	broad.mit.edu	37	chr10	135373607	135373615	+	In_Frame_Del	DEL	TTTGCACCA	TTTGCACCA	-													cacacgacctttctgcagctTttgcaccatttccatcaagt							TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr10:135373607_135373615delTTTGCACCA	ENST00000343131.5	-	2	220_228	c.116_124delTGGTGCAAA	c.(115-126)atggtgcaaaag>aag	p.MVQ39del	SYCE1_ENST00000432597.2_In_Frame_Del_p.MVQ3del|SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000368517.3_In_Frame_Del_p.MVQ3del	NM_001143764.1	NP_001137236.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	39					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TTCTGCAGCTTTTGCACCATTTCCATCAA	0.512																																						ENST00000368517.3																			0				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19						c.(7-18)aag>a		synaptonemal complex central element protein 1																																				SO:0001651	inframe_deletion	93426				cell division	central element		g.chr10:135373607_135373615delTTTGCACCA	AY027808	CCDS7687.1, CCDS44500.1, CCDS44501.1	10q26.3	2009-03-12	2005-09-27	2005-09-27	ENSG00000171772	ENSG00000171772			28852	protein-coding gene	gene with protein product	"cancer/testis antigen 76"	611486	"chromosome 10 open reading frame 94"	C10orf94		11829491	Standard	NM_130784		Approved	bA108K14.6, CT76	uc001lno.2	Q8N0S2	OTTHUMG00000019321	ENST00000343131.5:c.116_124delTGGTGCAAA	10.37:g.135373607_135373615delTTTGCACCA	ENSP00000341282:p.Met39_Gln41del					SYCE1_ENST00000432597.2_In_Frame_Del_p.MVQK3del|SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000343131.5_In_Frame_Del_p.MVQK39del	p.MVQK3del	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	2	146_154	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	39					B2RC80|Q9BWU3|Q9BWU4	In_Frame_Del	DEL	ENST00000343131.5	37	c.8_16delTGGTGCAAA	CCDS44501.1																																																																																				0.512	SYCE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_201564		10	50						10	50	---	---	---	---	-	135373615	TTTGCACCA	-	135373607	7	5	207	1	0	1	0	1	0	0	0	0	15425	1850	64	0	1022	0	SYCE1	10	135373607	In_Frame_Del	DEL	TTTGCACCA	TCGA-EL-A3D4-01A-11D-A19J-08		135373607	161140	8	4341											
SLC25A45	283130	broad.mit.edu	37	chr11	65144052	65144052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actctgcgtctcagtccatcCatctgcatccgggacttgat	8	14	3	1			TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr11:65144052C>T	ENST00000527174.1	-	6	748	c.693G>A	c.(691-693)atG>atA	p.M231I	SLC25A45_ENST00000360662.3_Missense_Mutation_p.M207I|SLC25A45_ENST00000526432.1_Missense_Mutation_p.M169I|SLC25A45_ENST00000294187.6_Missense_Mutation_p.M189I|SLC25A45_ENST00000534028.1_Missense_Mutation_p.M207I|SLC25A45_ENST00000398802.1_Missense_Mutation_p.M231I|SLC25A45_ENST00000417511.2_Missense_Mutation_p.M189I|SLC25A45_ENST00000377152.2_Missense_Mutation_p.M127I|RP11-867O8.5_ENST00000533886.1_RNA			Q8N413	S2545_HUMAN	solute carrier family 25, member 45	231					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						TCAGTCCATCCATCTGCATCC	0.617																																						ENST00000417511.2																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						c.(565-567)atG>atA		solute carrier family 25, member 45							98	103	102					11																	65144052		2163	4260	6423	SO:0001583	missense	283130				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr11:65144052C>T	BC041100	CCDS41670.1, CCDS41671.1, CCDS60850.1	11q13.1	2013-05-22			ENSG00000162241	ENSG00000162241		"Solute carriers"	27442	protein-coding gene	gene with protein product		610825				16949250	Standard	XM_006718507		Approved		uc001odr.1	Q8N413	OTTHUMG00000166255	ENST00000527174.1:c.693G>A	11.37:g.65144052C>T	ENSP00000435489:p.Met231Ile					SLC25A45_ENST00000526432.1_Missense_Mutation_p.M169I|SLC25A45_ENST00000527174.1_Missense_Mutation_p.M231I|SLC25A45_ENST00000294187.6_Missense_Mutation_p.M189I|SLC25A45_ENST00000360662.3_Missense_Mutation_p.M207I|SLC25A45_ENST00000534028.1_Missense_Mutation_p.M207I|SLC25A45_ENST00000377152.2_Missense_Mutation_p.M127I|SLC25A45_ENST00000398802.1_Missense_Mutation_p.M231I	p.M189I	NM_001278251.1	NP_001265180.1	Q8N413	S2545_HUMAN			10	1701	-			231					Q6PL49|Q8IW29	Missense_Mutation	SNP	ENST00000527174.1	37	c.567G>A	CCDS41670.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191043	0.78902	.	.	ENSG00000162241	ENST00000527174;ENST00000534028;ENST00000398802;ENST00000360662;ENST00000377152;ENST00000294187;ENST00000417511;ENST00000526432	T;T;T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	4.58	4.58	0.56647	Mitochondrial carrier domain (2);	.	.	.	.	T	0.78400	0.4277	N	0.16478	0.41	0.45690	D	0.998603	D;P;P	0.69078	0.997;0.767;0.885	D;P;P	0.79108	0.992;0.561;0.688	T	0.77101	-0.2712	9	0.31617	T	0.26	5.0032	15.256	0.73585	0.0:1.0:0.0:0.0	.	169;207;231	E9PJQ3;Q8N413-4;Q8N413	.;.;S2545_HUMAN	I	231;207;231;207;127;189;189;169	ENSP00000435489:M231I;ENSP00000431769:M207I;ENSP00000381782:M231I;ENSP00000353879:M207I;ENSP00000366357:M127I;ENSP00000294187:M189I;ENSP00000407530:M189I;ENSP00000435547:M169I	ENSP00000294187:M189I	M	-	3	0	SLC25A45	64900628	1.000000	0.71417	0.998000	0.56505	0.758000	0.43043	3.347000	0.52200	2.550000	0.86006	0.561000	0.74099	ATG		0.617	SLC25A45-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388744.3	NM_182556		33	67	0	0	0	1	0	33	67					T	65144052	C	T	65144052	3	4	207	1	0	0	0	0	1	0	0	0	14510	594	21	2	177	2	SLC25A45	11	65144052	Missense_Mutation	SNP	C	TCGA-EL-A3D4-01A-11D-A19J-08		65144052	69862464	9	4342											
HUWE1	10075	broad.mit.edu	37	chrX	53652121	53652121	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tatctggaatcaaataccatGtcgtatgccatctgagaaag	8	8	3	1			TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chrX:53652121G>C	ENST00000342160.3	-	17	2045	c.1588C>G	c.(1588-1590)Cat>Gat	p.H530D	HUWE1_ENST00000262854.6_Missense_Mutation_p.H530D|HUWE1_ENST00000218328.8_Missense_Mutation_p.H530D			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	530					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CAAATACCATGTCGTATGCCA	0.408																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(1588-1590)Cat>Gat		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							124	118	120					X																	53652121		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53652121G>C	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.1588C>G	X.37:g.53652121G>C	ENSP00000340648:p.His530Asp					HUWE1_ENST00000218328.8_Missense_Mutation_p.H530D|HUWE1_ENST00000262854.6_Missense_Mutation_p.H530D	p.H530D			Q7Z6Z7	HUWE1_HUMAN			17	2045	-			530					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.1588C>G	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.109351|4.109351	0.77096|0.77096	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328;ENST00000396323|ENST00000424562	T;T;T|.	0.39056|.	1.1;1.1;1.1|.	5.4|5.4	5.4|5.4	0.78164|0.78164	E3 ubiquitin ligase, domain of unknown function DUF913 (1);Armadillo-type fold (1);|.	0.135412|.	0.47852|.	D|.	0.000206|.	T|T	0.74435|0.74435	0.3716|0.3716	M|M	0.70275|0.70275	2.135|2.135	0.80722|0.80722	D|D	1|1	D|.	0.65815|.	0.995|.	P|.	0.62740|.	0.906|.	T|T	0.74500|0.74500	-0.3645|-0.3645	10|5	0.36615|.	T|.	0.2|.	.|.	16.9078|16.9078	0.86132|0.86132	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	530|.	Q7Z6Z7|.	HUWE1_HUMAN|.	D|R	530;530;530;237|208	ENSP00000340648:H530D;ENSP00000262854:H530D;ENSP00000218328:H530D|.	ENSP00000218328:H530D|.	H|T	-|-	1|2	0|0	HUWE1|HUWE1	53668846|53668846	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.959000|0.959000	0.62525|0.62525	9.383000|9.383000	0.97214|0.97214	2.254000|2.254000	0.74563|0.74563	0.600000|0.600000	0.82982|0.82982	CAT|ACA		0.408	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		4	45	0	0	0	1	0	4	45					C	53652121	G	C	53652121	3	2	207	1	0	0	0	0	1	0	0	0	7461	1377	48	4	11804	4	HUWE1	23	53652121	Missense_Mutation	SNP	G	TCGA-EL-A3D4-01A-11D-A19J-08		53652121	101618439	10	4343											
ABCB11	8647	broad.mit.edu	37	chr2	169850358	169850358	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaatgaaaagggccatttGgtcagctatggcatcattga	11	7	2	3			TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr2:169850358G>A	ENST00000263817.6	-	8	770	c.646C>T	c.(646-648)Caa>Taa	p.Q216*		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	216	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	AGGGCCATTTGGTCAGCTATG	0.383																																						ENST00000263817.6																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57						c.(646-648)Caa>Taa		ATP-binding cassette, sub-family B (MDR/TAP), member 11	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						50	48	49					2																	169850358		1882	4098	5980	SO:0001587	stop_gained	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169850358G>A	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"ATP binding cassette transporters / subfamily B"	42	protein-coding gene	gene with protein product	"ABC member 16, MDR/TAP subfamily"	603201	"progressive familial intrahepatic cholestasis 2", "bile salt export pump"	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.646C>T	2.37:g.169850358G>A	ENSP00000263817:p.Gln216*						p.Q216*	NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN			8	770	-			216			ABC transmembrane type-1 1.		Q53TL2|Q9UNB2	Nonsense_Mutation	SNP	ENST00000263817.6	37	c.646C>T	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	G	38	7.067928	0.98040	.	.	ENSG00000073734	ENST00000263817	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0726	19.7593	0.96308	0.0:0.0:1.0:0.0	.	.	.	.	X	216	.	ENSP00000263817:Q216X	Q	-	1	0	ABCB11	169558604	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	7.830000	0.86741	2.675000	0.91044	0.650000	0.86243	CAA		0.383	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		8	16	0	0	0	0.00308	0	8	16					A	169850358	G	A	169850358	4	1	208	1	0	0	0	0	0	1	0	0	42	1357	47	2	3403	2	ABCB11	2	169850358	Nonsense_Mutation	SNP	G	TCGA-EL-A3D5-01A-22D-A202-08		169850358	73349015	1	4344											
ORC2L	4999	broad.mit.edu	37	chr2	201822123	201822123	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atatttcaccccctcaaataCcttgaacatctcttcccata	1	15	3	1			TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr2:201822123C>G	ENST00000234296.2	-	4	488		c.e4+1		ORC2_ENST00000467605.1_Splice_Site	NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2						DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	condensed chromosome inner kinetochore (GO:0000939)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	DNA replication origin binding (GO:0003688)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						CCCTCAAATACCTTGAACATC	0.358																																						ENST00000234296.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						c.e4+1		origin recognition complex, subunit 2							147	138	141					2																	201822123		2203	4300	6503	SO:0001630	splice_region_variant	4999				cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr2:201822123C>G		CCDS2334.1	2q33	2010-10-12	2010-10-12	2010-10-12	ENSG00000115942	ENSG00000115942			8488	protein-coding gene	gene with protein product		601182	"origin recognition complex, subunit 2 (yeast homolog)-like", "origin recognition complex, subunit 2-like (yeast)", "origin recognition complex, subunit 2 homolog (yeast)"	ORC2L		8808289	Standard	NM_006190		Approved		uc002uwr.3	Q13416	OTTHUMG00000132783	ENST00000234296.2:c.238+1G>C	2.37:g.201822123C>G						ORC2_ENST00000467605.1_Splice_Site		NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN			4	488	-								Q13204|Q53TX5	Splice_Site	SNP	ENST00000234296.2	37		CCDS2334.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531611	0.64972	.	.	ENSG00000115942	ENST00000234296;ENST00000410039	.	.	.	5.7	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5725	0.45209	0.0:0.9113:0.0:0.0887	.	.	.	.	.	-1	.	.	.	-	.	.	ORC2	201530368	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	4.631000	0.61304	1.421000	0.47157	0.655000	0.94253	.		0.358	ORC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256191.2	NM_006190	Intron	36	93	0	0	0	0.00874	0	36	93					G	201822123	C	G	201822123	5	3	208	1	0	0	0	0	0	0	1	0	11262	521	18	4	1554	4	ORC2L	2	201822123	Splice_Site	SNP	C	TCGA-EL-A3D5-01A-22D-A202-08	31971765	201822123	41377250	2	4345											
SEMA3B	7869	broad.mit.edu	37	chr3	50311400	50311400	+	RNA	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	catgaacgacgtgcgccgggCcttcttgggaccctttgcac	12	14	1	1			TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr3:50311400C>G	ENST00000418948.1	+	0	1283							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GTGCGCCGGGCCTTCTTGGGA	0.667											OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000418948.1																			0				central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6								sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B							44	46	45					3																	50311400		2009	4183	6192			7869				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity	g.chr3:50311400C>G	U28369	CCDS74941.1	3p21.3	2013-01-11			ENSG00000012171	ENSG00000012171		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10724	protein-coding gene	gene with protein product		601281		SEMAA		7748561, 8633026	Standard	NM_004636		Approved	SemA, semaV, LUCA-1, sema5	uc003cyu.3	Q13214	OTTHUMG00000156970		3.37:g.50311400C>G			OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	968					Q13214	SEM3B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	0	1283	+								Q6GU46|Q8TB71|Q8TDV7|Q93018|Q96GX0	RNA	SNP	ENST00000418948.1	37			.	.	.	.	.	.	.	.	.	.	C	12.51	1.959140	0.34565	.	.	ENSG00000012171	ENST00000316347;ENST00000414456	.	.	.	4.59	3.72	0.42706	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.71459	0.3342	.	.	.	.	.	.	P;D;P;B	0.58620	0.849;0.983;0.849;0.45	P;D;P;P	0.65773	0.542;0.938;0.542;0.528	T	0.80204	-0.1479	7	0.72032	D	0.01	.	10.2784	0.43523	0.0:0.903:0.0:0.097	.	349;99;349;350	Q13214-2;Q59FY7;F5H2H7;Q13214	.;.;.;SEM3B_HUMAN	G	349	.	ENSP00000446262:A349G	A	+	2	0	SEMA3B	50286404	0.564000	0.26602	0.992000	0.48379	0.985000	0.73830	1.152000	0.31663	1.167000	0.42706	0.563000	0.77884	GCC		0.667	SEMA3B-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000346890.2	NM_001005914		19	43	0	0	0	0.010504	0	19	43					G	50311400	C	G	50311400	1	3	208	0	1	0	0	0	0	0	0	0	14025	739	26	4		4	SEMA3B	3	50311400	RNA	SNP	C	TCGA-EL-A3D5-01A-22D-A202-08		50311400	147711030	3	4346											
NPY1R	4886	broad.mit.edu	37	chr4	164247095	164247095	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagacaacctatgagagtcCgatggaaattgatcaaagca	9	7	1	3			TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr4:164247095C>T	ENST00000296533.2	-	2	1143	c.612G>A	c.(610-612)tcG>tcA	p.S204S	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	204					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TATGAGAGTCCGATGGAAATT	0.383																																						ENST00000296533.2																			0				breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30						c.(610-612)tcG>tcA		neuropeptide Y receptor Y1							85	74	78					4																	164247095		2203	4300	6503	SO:0001819	synonymous_variant	0				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	g.chr4:164247095C>T		CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"GPCR / Class A : Neuropeptide receptors : Y"	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.612G>A	4.37:g.164247095C>T						NPY1R_ENST00000509586.1_Intron	p.S204S	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN			2	1143	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	204					B2R6H5	Silent	SNP	ENST00000296533.2	37	c.612G>A	CCDS34089.1																																																																																				0.383	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1			18	36	0	0	0	0.006122	0	18	36					T	164247095	C	T	164247095	2	4	208	1	0	0	0	0	0	0	0	1	10608	639	23	1		1	NPY1R	4	164247095	Silent	SNP	C	TCGA-EL-A3D5-01A-22D-A202-08		164247095	26907181	4	4347											
PCDHB6	56130	broad.mit.edu	37	chr5	140531380	140531380	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aacggccacctgtttgccctCaggtcgctggactacgaggc	12	14	1	0	rs368223094		TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr5:140531380C>T	ENST00000231136.1	+	1	1542	c.1542C>T	c.(1540-1542)ctC>ctT	p.L514L	PCDHB6_ENST00000543635.1_Silent_p.L378L	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	514	Cadherin 5. {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)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTTGCCCTCAGGTCGCTGG	0.687																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(1540-1542)ctC>ctT									80	84	83					5																	140531380		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531380C>T	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1542C>T	5.37:g.140531380C>T						PCDHB6_ENST00000543635.1_Silent_p.L378L	p.L514L	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1542	+			514			Cadherin 5.		B2R8R9	Silent	SNP	ENST00000231136.1	37	c.1542C>T	CCDS4248.1																																																																																				0.687	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		12	239	0	0	0	0.013537	0	12	239					T	140531380	C	T	140531380	2	4	208	1	0	0	0	0	0	0	0	1	11546	813	29	2		2	PCDHB6	5	140531380	Silent	SNP	C	TCGA-EL-A3D5-01A-22D-A202-08		140531380	40383880	5	4348											
HOXC11	3227	broad.mit.edu	37	chr12	54367562	54367562	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcaagggcgaggccaagggGgagcccgaggcacccccggc	19	14	0	0			TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr12:54367562G>T	ENST00000546378.1	+	1	653	c.537G>T	c.(535-537)ggG>ggT	p.G179G	HOXC11_ENST00000243082.4_Silent_p.G179G|HOTAIR_ENST00000455246.1_RNA|HOTAIR_ENST00000424518.1_RNA			O43248	HXC11_HUMAN	homeobox C11	179					anterior/posterior pattern specification (GO:0009952)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|endoderm development (GO:0007492)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(1)|ovary(1)	2						AGGCCAAGGGGGAGCCCGAGG	0.716			T	NUP98	AML																																	ENST00000546378.1				Dom	yes		12	12q13.3	3227	T	homeo box C11			L	NUP98		AML		0				large_intestine(1)|ovary(1)	2						c.(535-537)ggG>ggT		homeobox C11							10	12	11					12																	54367562		2144	4171	6315	SO:0001819	synonymous_variant	3227				endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54367562G>T		CCDS8867.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123388	ENSG00000123388		"Homeoboxes / ANTP class : HOXL subclass"	5123	protein-coding gene	gene with protein product		605559	"homeo box C11"	HOX3H		1973146, 1358459	Standard	NM_014212		Approved		uc001sem.3	O43248	OTTHUMG00000160011	ENST00000546378.1:c.537G>T	12.37:g.54367562G>T						HOTAIR_ENST00000455246.1_RNA|HOTAIR_ENST00000424518.1_RNA|HOXC11_ENST00000243082.4_Silent_p.G179G	p.G179G			O43248	HXC11_HUMAN			1	653	+			179					A8K7D1|Q96DH2	Silent	SNP	ENST00000546378.1	37	c.537G>T	CCDS8867.1																																																																																				0.716	HOXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358869.2			10	13	1	0	5.16669e-11	0.010729	9.30004e-11	10	13					T	54367562	G	T	54367562	2	4	208	1	0	0	0	0	0	0	0	1	7310	1219	43	4		4	HOXC11	12	54367562	Silent	SNP	G	TCGA-EL-A3D5-01A-22D-A202-08		54367562	79484333	6	4349											
NAB2	4665	broad.mit.edu	37	chr12	57488406	57488406	+	Frame_Shift_Del	DEL	G	G	-													tccctgcagagttcgaggaaGggctgctggacagatgtcct							TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr12:57488406delG	ENST00000300131.3	+	7	1858	c.1480delG	c.(1480-1482)gggfs	p.G494fs	NAB2_ENST00000342556.6_Frame_Shift_Del_p.G430fs|NAB2_ENST00000357680.4_3'UTR	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	494					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GTTCGAGGAAGGGCTGCTGGA	0.627																																						ENST00000300131.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1480-1482)ggfs		NGFI-A binding protein 2 (EGR1 binding protein 2)																																				SO:0001589	frameshift_variant	4665				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	g.chr12:57488406delG	BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.1480delG	12.37:g.57488406delG	ENSP00000300131:p.Gly494fs					NAB2_ENST00000357680.4_3'UTR|NAB2_ENST00000342556.6_Frame_Shift_Del_p.G430fs	p.G494fs	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN			7	1858	+			494					B2RAK3|O76006|Q14797	Frame_Shift_Del	DEL	ENST00000300131.3	37	c.1480delG	CCDS8930.1																																																																																				0.627	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967		2	4						2	4	---	---	---	---	-	57488406	G	-	57488406	7	5	208	1	0	1	0	1	0	0	0	0	10132	1000	35	0	1506	0	NAB2	12	57488406	Frame_Shift_Del	DEL	G	TCGA-EL-A3D5-01A-22D-A202-08	3120844	57488406	76363489	7	4350											
AMDHD1	144193	broad.mit.edu	37	chr12	96359525	96359525	+	Frame_Shift_Del	DEL	G	G	-													taatagttgctctgggaagtGatttcaaccccaatgcatat							TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr12:96359525delG	ENST00000266736.2	+	7	1106	c.1000delG	c.(1000-1002)gatfs	p.D334fs		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	334					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						TCTGGGAAGTGATTTCAACCC	0.353																																						ENST00000266736.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						c.(1000-1002)atfs		amidohydrolase domain containing 1							148	131	136					12																	96359525		2203	4300	6503	SO:0001589	frameshift_variant	144193				histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding	g.chr12:96359525delG	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.1000delG	12.37:g.96359525delG	ENSP00000266736:p.Asp334fs						p.D334fs	NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN			7	1106	+			334					A8K463|Q68CI8	Frame_Shift_Del	DEL	ENST00000266736.2	37	c.1000delG	CCDS9057.1																																																																																				0.353	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435		34	77						34	77	---	---	---	---	-	96359525	G	-	96359525	7	5	208	1	0	1	0	1	0	0	0	0	567	1290	45	0	1026	0	AMDHD1	12	96359525	Frame_Shift_Del	DEL	G	TCGA-EL-A3D5-01A-22D-A202-08	38871119	96359525	37492370	8	4351											
DICER1	23405	broad.mit.edu	37	chr14	95557629	95557629	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatggcaccagcaagcgacTcaaaaatatcccccatggcc	7	14	1	0			TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr14:95557629T>C	ENST00000526495.1	-	27	5729	c.5438A>G	c.(5437-5439)gAg>gGg	p.E1813G	DICER1_ENST00000343455.3_Missense_Mutation_p.E1813G|DICER1_ENST00000556045.1_Missense_Mutation_p.E711G|DICER1_ENST00000541352.1_Intron|DICER1_ENST00000527416.2_5'UTR|DICER1_ENST00000527414.1_Missense_Mutation_p.E1813G|DICER1_ENST00000393063.1_Missense_Mutation_p.E1813G			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1813	RNase III 2. {ECO:0000255|PROSITE- ProRule:PRU00177}.		E -> G (in non-epithelial ovarian tumor; somatic mutation). {ECO:0000269|PubMed:22187960}.|E -> K (in non-epithelial ovarian tumor; somatic mutation). {ECO:0000269|PubMed:22187960}.|E -> Q (in non-epithelial ovarian tumor; somatic mutation). {ECO:0000269|PubMed:22187960}.		angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)	p.E1813G(1)|p.E1813A(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AGCAAGCGACTCAAAAATATC	0.458			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"Mis F, N"	"dicer 1, ribonuclease type III "			"E, M, O"		pleuropulmonary blastoma	"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"		2	Substitution - Missense(2)	p.E1813G(1)|p.E1813A(1)	endometrium(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(5437-5439)gAg>gGg		dicer 1, ribonuclease type III							225	231	229					14																	95557629		2203	4300	6503	SO:0001583	missense	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95557629T>C	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.5438A>G	14.37:g.95557629T>C	ENSP00000437256:p.Glu1813Gly					DICER1_ENST00000527414.1_Missense_Mutation_p.E1813G|DICER1_ENST00000541352.1_Intron|DICER1_ENST00000343455.3_Missense_Mutation_p.E1813G|DICER1_ENST00000556045.1_Missense_Mutation_p.E711G|DICER1_ENST00000527416.2_5'UTR|DICER1_ENST00000393063.1_Missense_Mutation_p.E1813G	p.E1813G			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	27	5729	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1813			RNase III 2.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.5438A>G	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.916173	0.92249	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045	D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07	5.6	5.6	0.85130	Ribonuclease III (5);	0.000000	0.85682	D	0.000000	D	0.96225	0.8769	H	0.99626	4.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98304	1.0520	10	0.87932	D	0	-26.0632	15.7947	0.78401	0.0:0.0:0.0:1.0	.	711;1813	B3KRG4;Q9UPY3	.;DICER_HUMAN	G	1813;1813;1813;1813;711	ENSP00000343745:E1813G;ENSP00000437256:E1813G;ENSP00000376783:E1813G;ENSP00000435681:E1813G;ENSP00000451041:E711G	ENSP00000343745:E1813G	E	-	2	0	DICER1	94627382	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.521000	0.81832	2.106000	0.64143	0.533000	0.62120	GAG		0.458	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			117	223	0	0	0	0.01441	0	117	223					C	95557629	T	C	95557629	3	2	208	1	0	0	0	0	1	0	0	0	4521	1551	54	3	342	3	DICER1	14	95557629	Missense_Mutation	SNP	T	TCGA-EL-A3D5-01A-22D-A202-08		95557629	11791911	9	4352											
DICER1	23405	broad.mit.edu	37	chr14	95598913	95598916	+	Frame_Shift_Del	DEL	GGAC	GGAC	-													aagtctcccctgatctgataGgacagctctttagtgagtag					rs111483821		TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr14:95598913_95598916delGGAC	ENST00000526495.1	-	5	534_537	c.243_246delGTCC	c.(241-246)ctgtccfs	p.LS81fs	DICER1_ENST00000343455.3_Frame_Shift_Del_p.LS81fs|DICER1_ENST00000541352.1_Frame_Shift_Del_p.LS81fs|DICER1_ENST00000527414.1_Frame_Shift_Del_p.LS81fs|DICER1_ENST00000393063.1_Frame_Shift_Del_p.LS81fs			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	81	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.			VLLTKELSYQIRGDFS -> STTLLKSCLYLDLGETSA (in Ref. 1; BAA78691). {ECO:0000305}.	angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TGATCTGATAGGACAGCTCTTTAG	0.407			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"Mis F, N"	"dicer 1, ribonuclease type III "			"E, M, O"		pleuropulmonary blastoma	"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(241-246)ctfs		dicer 1, ribonuclease type III																																				SO:0001589	frameshift_variant	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95598913_95598916delGGAC	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.243_246delGTCC	14.37:g.95598913_95598916delGGAC	ENSP00000437256:p.Leu81fs					DICER1_ENST00000527414.1_Frame_Shift_Del_p.LS81fs|DICER1_ENST00000541352.1_Frame_Shift_Del_p.LS81fs|DICER1_ENST00000343455.3_Frame_Shift_Del_p.LS81fs|DICER1_ENST00000393063.1_Frame_Shift_Del_p.LS81fs	p.LS81fs			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	5	534_537	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	81	VLLTKELSYQIRGDFS -> STTLLKSCLYLDLGETSA (in Ref. 1; BAA78691).		Helicase ATP-binding.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Frame_Shift_Del	DEL	ENST00000526495.1	37	c.243_246delGTCC	CCDS9931.1																																																																																				0.407	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			50	158						50	158	---	---	---	---	-	95598916	GGAC	-	95598913	7	5	208	1	0	1	0	1	0	0	0	0	4521	987	35	0	5622	0	DICER1	14	95598913	Frame_Shift_Del	DEL	GGAC	TCGA-EL-A3D5-01A-22D-A202-08	41284	95598913	11750627	10	4353											
RPAP1	26015	broad.mit.edu	37	chr15	41819130	41819130	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tattcctcccagctgaggccAggacacgaagtagtttcatg	10	11	1	1			TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr15:41819130A>C	ENST00000304330.4	-	14	1999	c.1883T>G	c.(1882-1884)cTg>cGg	p.L628R	RPAP1_ENST00000568413.1_5'Flank|RPAP1_ENST00000561603.1_Missense_Mutation_p.L628R	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	628						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AGCTGAGGCCAGGACACGAAG	0.572																																						ENST00000304330.4																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45						c.(1882-1884)cTg>cGg		RNA polymerase II associated protein 1							127	127	127					15																	41819130		2203	4300	6503	SO:0001583	missense	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41819130A>C	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.1883T>G	15.37:g.41819130A>C	ENSP00000306123:p.Leu628Arg					RPAP1_ENST00000561603.1_Missense_Mutation_p.L628R	p.L628R	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	14	1999	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	628					Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	c.1883T>G	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.246854	0.80024	.	.	ENSG00000103932	ENST00000304330	T	0.72051	-0.62	5.1	5.1	0.69264	.	0.079503	0.51477	D	0.000085	T	0.81772	0.4893	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.83997	0.0341	10	0.87932	D	0	-6.7238	14.8461	0.70261	1.0:0.0:0.0:0.0	.	628	Q9BWH6	RPAP1_HUMAN	R	628	ENSP00000306123:L628R	ENSP00000306123:L628R	L	-	2	0	RPAP1	39606422	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.868000	0.92320	2.047000	0.60756	0.460000	0.39030	CTG		0.572	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		7	258	0	0	0	0.001984	0	7	258					C	41819130	A	C	41819130	3	2	208	1	0	0	0	0	1	0	0	0	13541	188	7	5	2346	5	RPAP1	15	41819130	Missense_Mutation	SNP	A	TCGA-EL-A3D5-01A-22D-A202-08		41819130	60712262	11	4354											
SF3B3	23450	broad.mit.edu	37	chr16	70599364	70599364	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctaaacccccgatctgtggcAgggggcttcgtctatactta	10	12	2	0			TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr16:70599364A>T	ENST00000302516.5	+	20	2974	c.2763A>T	c.(2761-2763)gcA>gcT	p.A921A		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	921					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GATCTGTGGCAGGGGGCTTCG	0.488																																						ENST00000302516.5																			0				breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53						c.(2761-2763)gcA>gcT		splicing factor 3b, subunit 3, 130kDa							105	112	110					16																	70599364		2198	4300	6498	SO:0001819	synonymous_variant	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70599364A>T	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"splicing factor 3b, subunit 3, 130kD"			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.2763A>T	16.37:g.70599364A>T							p.A921A	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN			20	2974	+		Ovarian(137;0.0694)	921					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Silent	SNP	ENST00000302516.5	37	c.2763A>T	CCDS10894.1																																																																																				0.488	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		6	139	0	0	0	0.021553	0	6	139					T	70599364	A	T	70599364	2	4	208	1	0	0	0	0	0	0	0	1	14152	175	7	5		5	SF3B3	16	70599364	Silent	SNP	A	TCGA-EL-A3D5-01A-22D-A202-08		70599364	19755389	12	4355											
TP53	7157	broad.mit.edu	37	chr17	7573998	7573999	+	Frame_Shift_Del	DEL	CT	CT	-													agttccaaggcctcattcagCtctcggaacatctcgaagcg							TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr17:7573998_7573999delCT	ENST00000269305.4	-	10	1217_1218	c.1028_1029delAG	c.(1027-1029)gagfs	p.E343fs	TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.E343fs|TP53_ENST00000359597.4_Intron	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	343	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		E -> G (in sporadic cancers; somatic mutation).		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.0?(8)|p.L344fs*23(2)|p.I332fs*5(1)|p.R342_N345delRELN(1)|p.?(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)	CCTCATTCAGCTCTCGGAACAT	0.569		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)	ENST00000269305.4		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"		13	Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(1)|Deletion - In frame(1)	p.0?(8)|p.L344fs*23(2)|p.I332fs*5(1)|p.R342_N345delRELN(1)|p.?(1)	bone(4)|upper_aerodigestive_tract(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|stomach(1)|breast(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						c.(1027-1029)gfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_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.chr17:7573998_7573999delCT	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.1028_1029delAG	17.37:g.7574000_7574001delCT	ENSP00000269305:p.Glu343fs	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_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000445888.2_Frame_Shift_Del_p.E343fs	p.E343fs	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		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1217_1218	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	343		E -> G (in sporadic cancers; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.1028_1029delAG	CCDS11118.1																																																																																				0.569	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		26	15						26	15	---	---	---	---	-	7573999	CT	-	7573998	7	5	208	1	0	1	0	1	0	0	0	0	16378	796	28	0	160	0	TP53	17	7573998	Frame_Shift_Del	DEL	CT	TCGA-EL-A3D5-01A-22D-A202-08		7573998	73621212	13	4356											
NCAN	1463	broad.mit.edu	37	chr19	19359691	19359691	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaaattgtctgcaccaaaCgtaagtagcttctcccagag	7	13	2	1	rs148844959	byFrequency	TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr19:19359691C>T	ENST00000252575.6	+	14	3919	c.3820C>T	c.(3820-3822)Ccc>Tcc	p.P1274S	NCAN_ENST00000538881.1_Splice_Site_p.P725S	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1274					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	CTGCACCAAACGTAAGTAGCT	0.463																																						ENST00000252575.5																			0				breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.e14+1		neurocan		C	SER/PRO	3,4403	6.2+/-15.9	0,3,2200	108	93	98		3820	3.5	1.0	19	dbSNP_134	98	0,8600		0,0,4300	yes	missense-near-splice	NCAN	NM_004386.2	74	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging	1274/1322	19359691	3,13003	2203	4300	6503	SO:0001630	splice_region_variant	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19359691C>T	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	2465	protein-coding gene	gene with protein product	"neurocan proteoglycan"	600826	"chondroitin sulfate proteoglycan 3"	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3820+1C>T	19.37:g.19359691C>T						NCAN_ENST00000538881.1_Splice_Site_p.P725_splice	p.P1274_splice	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		14	3863	+			1274					Q9UPK6	Splice_Site	SNP	ENST00000252575.6	37	c.3820_splice	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.313469	0.40996	6.81E-4	0.0	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.85629	-1.86;-2.01	4.54	3.51	0.40186	.	0.210382	0.24156	N	0.041030	T	0.68906	0.3052	N	0.11560	0.145	0.32617	N	0.523886	B	0.31503	0.326	B	0.22601	0.04	T	0.74691	-0.3580	10	0.72032	D	0.01	.	10.2033	0.43099	0.0:0.9026:0.0:0.0974	.	1274	O14594	NCAN_HUMAN	S	1288;1274;725	ENSP00000252575:P1274S;ENSP00000442202:P725S	ENSP00000252575:P1274S	P	+	1	0	NCAN	19220691	0.946000	0.32159	1.000000	0.80357	0.947000	0.59692	1.872000	0.39549	1.147000	0.42369	0.536000	0.68110	CCC		0.463	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386	Missense_Mutation	23	27	0	0	0	0.016522	0	23	27					T	19359691	C	T	19359691	5	4	208	1	0	0	0	0	0	0	1	0	10204	550	19	1	3870	1	NCAN	19	19359691	Splice_Site	SNP	C	TCGA-EL-A3D5-01A-22D-A202-08		19359691	39769292	14	4357											
TSPYL2	64061	broad.mit.edu	37	chrX	53114505	53114505	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agcaagaaatgaagaaacggTaatgggagtttggtcgctga	14	4	0	4			TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chrX:53114505T>A	ENST00000375442.4	+	5	1370		c.e5+2			NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|chromatin modification (GO:0016568)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA replication (GO:0008156)|nucleosome assembly (GO:0006334)|regulation of protein kinase activity (GO:0045859)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	rDNA binding (GO:0000182)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						GAAGAAACGGTAATGGGAGTT	0.443																																						ENST00000375442.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						c.e5+2		TSPY-like 2							89	87	88					X																	53114505		2203	4300	6503	SO:0001630	splice_region_variant	64061				cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding	g.chrX:53114505T>A	AF273046	CCDS14350.1	Xp11	2014-06-09			ENSG00000184205	ENSG00000184205			24358	protein-coding gene	gene with protein product		300564				11318608, 11395479	Standard	NM_022117		Approved	SE20-4, HRIHFB2216, CTCL, DENTT, CDA1, CINAP, TSPX	uc004drw.3	Q9H2G4	OTTHUMG00000021597	ENST00000375442.4:c.1238+2T>A	X.37:g.53114505T>A								NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN			5	1370	+								O94799|Q96DG7|Q9BZW6	Splice_Site	SNP	ENST00000375442.4	37		CCDS14350.1	.	.	.	.	.	.	.	.	.	.	T	5.917	0.353254	0.11182	.	.	ENSG00000184205	ENST00000375442	.	.	.	3.57	3.57	0.40892	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7437	0.28856	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TSPYL2	53131230	1.000000	0.71417	0.492000	0.27490	0.265000	0.26407	2.188000	0.42612	1.641000	0.50575	0.417000	0.27973	.		0.443	TSPYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056718.1	NM_022117	Intron	22	43	0	0	0	0.014323	0	22	43					A	53114505	T	A	53114505	5	1	208	1	0	0	0	0	0	0	1	0	16657	1652	57	5	1258	5	TSPYL2	23	53114505	Splice_Site	SNP	T	TCGA-EL-A3D5-01A-22D-A202-08		53114505	102156055	15	4358											
SIKE1	80143	broad.mit.edu	37	chr1	115321810	115321811	+	Frame_Shift_Ins	INS	-	-	T													actggttcagcatccaccgcINSttttttagcaaccattaact							TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr1:115321810_115321811insT	ENST00000060969.5	-	3	429_430	c.360_361insA	c.(358-363)aaagcgfs	p.A121fs	SIKE1_ENST00000369528.5_Frame_Shift_Ins_p.A125fs|SIKE1_ENST00000506320.1_5'UTR			Q9BRV8	SIKE1_HUMAN	suppressor of IKBKE 1	121					innate immune response (GO:0045087)	cytosol (GO:0005829)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						GCATCCACCGCTTTTTTAGCAA	0.396																																						ENST00000369528.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						c.(370-375)aacggtfs		suppressor of IKBKE 1																																				SO:0001589	frameshift_variant	80143					cytosol	protein binding	g.chr1:115321810_115321811insT	AK024821	CCDS878.1, CCDS41371.1	1p13.1	2009-08-13			ENSG00000052723	ENSG00000052723			26119	protein-coding gene	gene with protein product	"suppressor of IKK epsilon"	611656				16281057	Standard	NM_025073		Approved	FLJ21168, SIKE	uc001efp.4	Q9BRV8	OTTHUMG00000012061	ENST00000060969.5:c.361dupA	1.37:g.115321816_115321816dupT	ENSP00000060969:p.Ala121fs					SIKE1_ENST00000506320.1_5'UTR|SIKE1_ENST00000060969.5_Frame_Shift_Ins_p.NG120fs	p.NG124fs	NM_001102396.1|NM_025073.2	NP_001095866.1|NP_079349.2	Q9BRV8	SIKE1_HUMAN			3	449_450	-			120					Q5TEZ7|Q5TEZ9|Q68DZ4|Q9H778	Frame_Shift_Ins	INS	ENST00000060969.5	37	c.372_373insA	CCDS878.1																																																																																				0.396	SIKE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033401.1	NM_025073		30	139						30	139	---	---	---	---	T	115321811	-	T	115321810	7	5	209	1	0	1	1	0	0	0	0	0	14320	797	28	0	274	0	SIKE1	1	115321810	Frame_Shift_Ins	INS	-	TCGA-EL-A3D6-01A-12D-A202-08		115321810	133928811	1	4359											
ALS2	57679	broad.mit.edu	37	chr2	202603435	202603435	+	Frame_Shift_Del	DEL	A	A	-													ggaatcctcccataaccaggAaatttgtaatagatgtgcaa							TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr2:202603435delA	ENST00000264276.6	-	12	2747	c.2375delT	c.(2374-2376)ttcfs	p.F792fs	ALS2_ENST00000457679.2_Frame_Shift_Del_p.F104fs	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	792	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CATAACCAGGAAATTTGTAAT	0.383																																						ENST00000264276.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						c.(2374-2376)tcfs		amyotrophic lateral sclerosis 2 (juvenile)							90	88	88					2																	202603435		1864	4105	5969	SO:0001589	frameshift_variant	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202603435delA	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"Rho guanine nucleotide exchange factors"	443	protein-coding gene	gene with protein product	"alsin"	606352	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.2375delT	2.37:g.202603435delA	ENSP00000264276:p.Phe792fs					ALS2_ENST00000457679.2_Frame_Shift_Del_p.F104fs	p.F792fs	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN			12	2747	-			792			DH.		Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Frame_Shift_Del	DEL	ENST00000264276.6	37	c.2375delT	CCDS42800.1																																																																																				0.383	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		9	53						9	53	---	---	---	---	-	202603435	A	-	202603435	7	5	209	1	0	1	0	1	0	0	0	0	550	246	9	0	2690	0	ALS2	2	202603435	Frame_Shift_Del	DEL	A	TCGA-EL-A3D6-01A-12D-A202-08		202603435	40595938	2	4360											
SLC4A7	9497	broad.mit.edu	37	chr3	27444776	27444776	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtaaatcgagtaatataacaCacaaggctgcttgcatctgt	8	8	1	0			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr3:27444776C>G	ENST00000295736.5	-	15	2218	c.2148G>C	c.(2146-2148)gtG>gtC	p.V716V	SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000435667.2_Silent_p.V601V|SLC4A7_ENST00000455077.1_Silent_p.V597V|SLC4A7_ENST00000446700.1_Silent_p.V708V|SLC4A7_ENST00000428386.1_Silent_p.V592V|SLC4A7_ENST00000454389.1_Silent_p.V725V|SLC4A7_ENST00000437179.1_Silent_p.V597V|SLC4A7_ENST00000388777.4_Silent_p.V266V|SLC4A7_ENST00000445684.1_Silent_p.V712V|SLC4A7_ENST00000440156.1_Silent_p.V712V	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	716					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	TAATATAACACACAAGGCTGC	0.378																																						ENST00000295736.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						c.(2146-2148)gtG>gtC		solute carrier family 4, sodium bicarbonate cotransporter, member 7							105	105	105					3																	27444776		2203	4300	6503	SO:0001819	synonymous_variant	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27444776C>G	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"Solute carriers"	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.2148G>C	3.37:g.27444776C>G						SLC4A7_ENST00000446700.1_Silent_p.V708V|SLC4A7_ENST00000440156.1_Silent_p.V712V|SLC4A7_ENST00000437179.1_Silent_p.V597V|SLC4A7_ENST00000445684.1_Silent_p.V712V|SLC4A7_ENST00000388777.4_Silent_p.V266V|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000428386.1_Silent_p.V592V|SLC4A7_ENST00000454389.1_Silent_p.V725V|SLC4A7_ENST00000455077.1_Silent_p.V597V|SLC4A7_ENST00000435667.2_Silent_p.V601V	p.V716V	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN			15	2218	-			716					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Silent	SNP	ENST00000295736.5	37	c.2148G>C	CCDS33721.1																																																																																				0.378	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		6	145	0	0	0	0.001168	0	6	145					G	27444776	C	G	27444776	2	3	209	1	0	0	0	0	0	0	0	1	14658	465	17	4		4	SLC4A7	3	27444776	Silent	SNP	C	TCGA-EL-A3D6-01A-12D-A202-08		27444776	170577654	3	4361											
NAALADL2	254827	broad.mit.edu	37	chr3	175455163	175455163	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaatgcacttgatatagctTtagaagttcaaaacaacctt	5	7	1	2			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr3:175455163T>C	ENST00000454872.1	+	12	2094	c.1966T>C	c.(1966-1968)Tta>Cta	p.L656L	snoU13_ENST00000606657.1_RNA	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	656						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TGATATAGCTTTAGAAGTTCA	0.313																																						ENST00000454872.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49						c.(1966-1968)Tta>Cta		N-acetylated alpha-linked acidic dipeptidase-like 2							104	97	99					3																	175455163		1819	4074	5893	SO:0001819	synonymous_variant	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:175455163T>C		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"glutamate carboxypeptidase II-type non-peptidase homologue"	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.1966T>C	3.37:g.175455163T>C							p.L656L	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	12	2094	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	656					Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Silent	SNP	ENST00000454872.1	37	c.1966T>C	CCDS46960.1																																																																																				0.313	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		3	64	0	0	0	0.009096	0	3	64					C	175455163	T	C	175455163	2	2	209	1	0	0	0	0	0	0	0	1	10130	1838	64	3		3	NAALADL2	3	175455163	Silent	SNP	T	TCGA-EL-A3D6-01A-12D-A202-08	148010387	175455163	22567267	4	4362											
GABRA6	2559	broad.mit.edu	37	chr5	161128522	161128522	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agcatcctgactccaaatatCatctgaagaaaaggatcact	6	10	3	3			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr5:161128522C>T	ENST00000274545.5	+	9	1538	c.1105C>T	c.(1105-1107)Cat>Tat	p.H369Y	GABRA6_ENST00000523217.1_Missense_Mutation_p.H359Y			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	369					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.H369Y(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|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)	CTCCAAATATCATCTGAAGAA	0.378										TCGA Ovarian(5;0.080)																												ENST00000523217.1																			1	Substitution - Missense(1)	p.H369Y(1)	skin(1)	breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(1075-1077)Cat>Tat		gamma-aminobutyric acid (GABA) A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						104	109	107					5																	161128522		2203	4300	6503	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161128522C>T		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4080	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 6"	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.1105C>T	5.37:g.161128522C>T	ENSP00000274545:p.His369Tyr	TCGA Ovarian(5;0.080)				GABRA6_ENST00000274545.5_Missense_Mutation_p.H369Y	p.H359Y	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1317	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	369					A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.1075C>T	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	C	5.469	0.271617	0.10349	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.83914	-1.78;-1.78	5.16	-0.862	0.10673	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.571169	0.17860	N	0.159575	T	0.59128	0.2171	N	0.04959	-0.14	0.24253	N	0.99532	B	0.02656	0.0	B	0.12837	0.008	T	0.46938	-0.9155	10	0.30854	T	0.27	.	4.9722	0.14121	0.4759:0.2697:0.0:0.2544	.	369	Q16445	GBRA6_HUMAN	Y	369;359	ENSP00000274545:H369Y;ENSP00000430527:H359Y	ENSP00000274545:H369Y	H	+	1	0	GABRA6	161061100	0.710000	0.27896	0.635000	0.29338	0.943000	0.58893	1.108000	0.31123	0.013000	0.14918	0.655000	0.94253	CAT		0.378	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			8	155	0	0	0	0.004482	0	8	155					T	161128522	C	T	161128522	3	4	209	1	0	0	0	0	1	0	0	0	6165	826	29	2	1139	2	GABRA6	5	161128522	Missense_Mutation	SNP	C	TCGA-EL-A3D6-01A-12D-A202-08		161128522	19786738	5	4363											
BAI3	577	broad.mit.edu	37	chr6	69758224	69758224	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttcactccggtgtcatcaaAaggtaaatatctgaaataat	6	7	4	1			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr6:69758224A>T	ENST00000370598.1	+	14	3076	c.2255A>T	c.(2254-2256)aAa>aTa	p.K752I		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	752					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GTGTCATCAAAAGGTAAATAT	0.328																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(2254-2256)aAa>aTa		brain-specific angiogenesis inhibitor 3							56	59	58					6																	69758224		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69758224A>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2255A>T	6.37:g.69758224A>T	ENSP00000359630:p.Lys752Ile						p.K752I	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			14	3076	+		all_lung(197;0.212)	752					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.2255A>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	A	13.39	2.221520	0.39300	.	.	ENSG00000135298	ENST00000370598	T	0.22134	1.97	5.08	3.75	0.43078	Domain of unknown function DUF3497 (1);	0.307454	0.27482	N	0.019179	T	0.07052	0.0179	N	0.14661	0.345	0.80722	D	1	B	0.30104	0.268	B	0.38378	0.272	T	0.08932	-1.0698	10	0.52906	T	0.07	.	7.9378	0.29939	0.8225:0.0:0.1775:0.0	.	752	O60242	BAI3_HUMAN	I	752	ENSP00000359630:K752I	ENSP00000359630:K752I	K	+	2	0	BAI3	69814945	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.376000	0.44292	2.056000	0.61249	0.529000	0.55759	AAA		0.328	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			5	47	0	0	0	0.001168	0	5	47					T	69758224	A	T	69758224	3	4	209	1	0	0	0	0	1	0	0	0	1300	14	1	5	2301	5	BAI3	6	69758224	Missense_Mutation	SNP	A	TCGA-EL-A3D6-01A-12D-A202-08		69758224	101356843	6	4364											
STK31	56164	broad.mit.edu	37	chr7	23871854	23871854	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aatgtttcttgatgccaaagGagcaatcagttccaaaccca	7	10	2	1			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr7:23871854G>C	ENST00000355870.3	+	24	3048	c.2929G>C	c.(2929-2931)Gag>Cag	p.E977Q	STK31_ENST00000428484.1_Missense_Mutation_p.E954Q|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000354639.3_Missense_Mutation_p.E954Q|STK31_ENST00000433467.2_Missense_Mutation_p.E954Q	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	977	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GATGCCAAAGGAGCAATCAGT	0.358																																						ENST00000354639.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(2860-2862)Gag>Cag		serine/threonine kinase 31							106	106	106					7																	23871854		2203	4300	6503	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23871854G>C	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"Tudor domain containing"	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.2929G>C	7.37:g.23871854G>C	ENSP00000348132:p.Glu977Gln					STK31_ENST00000428484.1_Missense_Mutation_p.E954Q|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.E977Q|STK31_ENST00000433467.2_Missense_Mutation_p.E954Q	p.E954Q	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN			24	3324	+			977			Protein kinase.		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.2860G>C	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906587	0.33628	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.70399	-0.48;1.32;-0.47;-0.47	4.98	4.08	0.47627	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.821157	0.10896	N	0.622179	T	0.44117	0.1278	N	0.08118	0	0.09310	N	0.999992	P;P;P	0.39157	0.662;0.608;0.476	B;B;B	0.32677	0.15;0.063;0.063	T	0.13045	-1.0524	10	0.15066	T	0.55	9.0E-4	8.3385	0.32230	0.1686:0.0:0.8314:0.0	.	954;977;977	B4DZ06;A4D159;Q9BXU1	.;.;STK31_HUMAN	Q	977;954;954;954	ENSP00000348132:E977Q;ENSP00000411852:E954Q;ENSP00000346660:E954Q;ENSP00000406146:E954Q	ENSP00000346660:E954Q	E	+	1	0	STK31	23838379	0.980000	0.34600	0.833000	0.33012	0.796000	0.44982	2.229000	0.42990	2.454000	0.82982	0.491000	0.48974	GAG		0.358	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		3	95	0	0	0	0.009096	0	3	95					C	23871854	G	C	23871854	3	2	209	1	0	0	0	0	1	0	0	0	15295	1175	41	4	3023	4	STK31	7	23871854	Missense_Mutation	SNP	G	TCGA-EL-A3D6-01A-12D-A202-08		23871854	135266809	7	4365											
ZAN	7455	broad.mit.edu	37	chr7	100352918	100352918	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaagagccccaggcctaGctgtgggcccctctgtcggg	15	14	1	1			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr7:100352918G>T	ENST00000348028.3	+	0	3359				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_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)			CCCAGGCCTAGCTGTGGGCCC	0.562																																						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)							129	135	133					7																	100352918		1937	4130	6067			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100352918G>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.100352918G>T						ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	3342	+	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			.	.	.	.	.	.	.	.	.	.	g	13.67	2.306761	0.40795	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	D;D;D	0.90844	-2.74;-2.74;-2.74	5.13	-5.65	0.02459	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	1.292130	0.05245	N	0.512894	D	0.88377	0.6420	L	0.41824	1.3	0.33574	D	0.599017	P;P	0.51653	0.935;0.947	P;P	0.51582	0.545;0.674	T	0.83267	-0.0045	10	0.66056	D	0.02	.	8.1388	0.31071	0.3742:0.4635:0.1623:0.0	.	1065;1065	F5H0T8;Q9Y493	.;ZAN_HUMAN	I	1065	ENSP00000445943:S1065I;ENSP00000445091:S1065I;ENSP00000444427:S1065I	ENSP00000423579:S1065I	S	+	2	0	ZAN	100190854	0.000000	0.05858	0.023000	0.16930	0.235000	0.25334	-4.515000	0.00222	-1.086000	0.03084	0.651000	0.88453	AGC		0.562	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		73	186	1	0	1.38806e-43	0.01441	2.77612e-43	73	186					T	100352918	G	T	100352918	1	4	209	0	1	0	0	0	0	0	0	0	17510	971	34	4		4	ZAN	7	100352918	RNA	SNP	G	TCGA-EL-A3D6-01A-12D-A202-08	76481064	100352918	58785745	8	4366											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		32	87	0	0	0	0.004289	0	32	87					T	140453136	A	T	140453136	3	4	209	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3D6-01A-12D-A202-08	40100218	140453136	18685527	9	4367											
FAM110B	90362	broad.mit.edu	37	chr8	59058923	59058923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcaggccgagcccaaccCcaagaggctcagcgccgtgg	14	16	1	1			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr8:59058923C>T	ENST00000361488.3	+	5	1014	c.134C>T	c.(133-135)cCc>cTc	p.P45L	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	45						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GAGCCCAACCCCAAGAGGCTC	0.667																																						ENST00000361488.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26						c.(133-135)cCc>cTc		family with sequence similarity 110, member B							34	37	36					8																	59058923		2203	4300	6503	SO:0001583	missense	90362					microtubule organizing center|mitochondrion|nucleus		g.chr8:59058923C>T	U79298	CCDS6170.1	8q12.1	2007-06-21	2007-03-21	2007-03-21		ENSG00000169122			28587	protein-coding gene	gene with protein product		611394	"chromosome 8 open reading frame 72"	C8orf72		8619474, 9110174, 17499476	Standard	XM_005251324		Approved	MGC39325	uc003xtj.1	Q8TC76		ENST00000361488.3:c.134C>T	8.37:g.59058923C>T	ENSP00000355204:p.Pro45Leu					FAM110B_ENST00000520369.1_Intron	p.P45L	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN			5	1014	+		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)	45					Q5BM08|Q9Y4K2	Missense_Mutation	SNP	ENST00000361488.3	37	c.134C>T	CCDS6170.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750181	0.69533	.	.	ENSG00000169122	ENST00000361488	T	0.47869	0.83	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.62380	0.2423	M	0.61703	1.905	0.80722	D	1	P	0.50066	0.931	P	0.57204	0.815	T	0.61598	-0.7030	9	.	.	.	-19.1696	18.2903	0.90127	0.0:1.0:0.0:0.0	.	45	Q8TC76	F110B_HUMAN	L	45	ENSP00000355204:P45L	.	P	+	2	0	FAM110B	59221477	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.659000	0.61504	2.312000	0.78011	0.313000	0.20887	CCC		0.667	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378095.2	NM_147189		9	42	0	0	0	0.010729	0	9	42					T	59058923	C	T	59058923	3	4	209	1	0	0	0	0	1	0	0	0	5397	623	22	2	136	2	FAM110B	8	59058923	Missense_Mutation	SNP	C	TCGA-EL-A3D6-01A-12D-A202-08		59058923	87305099	10	4368											
CA13	377677	broad.mit.edu	37	chr8	86193478	86193478	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggccaaatttcgcagtcTcctgtgcacagcggagggtg	14	11	1	0			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr8:86193478T>G	ENST00000321764.3	+	7	991	c.689T>G	c.(688-690)cTc>cGc	p.L230R		NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	230					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|myelin sheath (GO:0043209)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)	7					Zonisamide(DB00909)	TTTCGCAGTCTCCTGTGCACA	0.458																																						ENST00000321764.3																			0				large_intestine(1)|lung(6)	7						c.(688-690)cTc>cGc		carbonic anhydrase XIII							143	169	160					8																	86193478		2203	4300	6503	SO:0001583	missense	377677				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	g.chr8:86193478T>G	BC052602	CCDS6236.1	8q21	2004-05-10				ENSG00000185015		"Carbonic anhydrases"	14914	protein-coding gene	gene with protein product		611436				14600151	Standard	NM_198584		Approved	CAXIII, FLJ37995, MGC59868	uc003ydg.2	Q8N1Q1		ENST00000321764.3:c.689T>G	8.37:g.86193478T>G	ENSP00000318912:p.Leu230Arg						p.L230R	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN			7	991	+			230						Missense_Mutation	SNP	ENST00000321764.3	37	c.689T>G	CCDS6236.1	.	.	.	.	.	.	.	.	.	.	T	16.17	3.046088	0.55110	.	.	ENSG00000185015	ENST00000321764	T	0.68181	-0.31	5.32	5.32	0.75619	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.056894	0.64402	D	0.000001	D	0.86364	0.5915	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90154	0.4223	10	0.87932	D	0	-18.0628	14.5548	0.68094	0.0:0.0:0.0:1.0	.	230	Q8N1Q1	CAH13_HUMAN	R	230	ENSP00000318912:L230R	ENSP00000318912:L230R	L	+	2	0	CA13	86380730	1.000000	0.71417	0.690000	0.30148	0.181000	0.23173	6.123000	0.71614	2.139000	0.66308	0.459000	0.35465	CTC		0.458	CA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381066.1	NM_198584		30	244	0	0	0	0.003271	0	30	244					G	86193478	T	G	86193478	3	3	209	1	0	0	0	0	1	0	0	0	2514	1551	54	5	715	5	CA13	8	86193478	Missense_Mutation	SNP	T	TCGA-EL-A3D6-01A-12D-A202-08	27134555	86193478	60170544	11	4369											
IARS	3376	broad.mit.edu	37	chr9	95027811	95027811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcctgacagttcttcaagttCcgccactgacccaatgcata	6	14	2	2			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr9:95027811C>T	ENST00000375643.3	-	15	1722	c.1456G>A	c.(1456-1458)Gaa>Aaa	p.E486K	IARS_ENST00000375629.3_5'UTR|IARS_ENST00000447699.2_Missense_Mutation_p.E376K|IARS_ENST00000443024.2_Missense_Mutation_p.E486K	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	486					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	TCTTCAAGTTCCGCCACTGAC	0.413																																						ENST00000375643.3																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1456-1458)Gaa>Aaa		isoleucyl-tRNA synthetase	L-Isoleucine(DB00167)						149	142	144					9																	95027811		2203	4300	6503	SO:0001583	missense	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95027811C>T	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	5330	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 1, cytoplasmic"	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.1456G>A	9.37:g.95027811C>T	ENSP00000364794:p.Glu486Lys					IARS_ENST00000447699.2_Missense_Mutation_p.E376K|IARS_ENST00000443024.2_Missense_Mutation_p.E486K|IARS_ENST00000375629.3_5'UTR	p.E486K	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN			15	1722	-			486					A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	c.1456G>A	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	C	34	5.380695	0.95945	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660	T;T;T	0.38401	1.14;1.14;1.14	5.23	5.23	0.72850	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.048735	0.85682	D	0.000000	T	0.62183	0.2407	M	0.85099	2.735	0.80722	D	1	D;P	0.55385	0.971;0.859	P;P	0.59357	0.856;0.681	T	0.66705	-0.5856	10	0.49607	T	0.09	-21.4256	18.4017	0.90519	0.0:1.0:0.0:0.0	.	486;331	P41252;Q6P0M4	SYIC_HUMAN;.	K	486;486;376;486	ENSP00000364794:E486K;ENSP00000406448:E486K;ENSP00000415020:E376K	ENSP00000364794:E486K	E	-	1	0	IARS	94067632	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.444000	0.80532	2.461000	0.83175	0.591000	0.81541	GAA		0.413	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		7	213	0	0	0	0.004482	0	7	213					T	95027811	C	T	95027811	3	4	209	1	0	0	0	0	1	0	0	0	7473	864	30	2	2412	2	IARS	9	95027811	Missense_Mutation	SNP	C	TCGA-EL-A3D6-01A-12D-A202-08		95027811	46185620	12	4370											
NCBP1	4686	broad.mit.edu	37	chr9	100409798	100409798	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccaaaagactcatgtaccCatgttacaggtatggactgc	9	11	1	1			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr9:100409798C>T	ENST00000375147.3	+	7	892	c.636C>T	c.(634-636)ccC>ccT	p.P212P		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	212	MIF4G.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				CTCATGTACCCATGTTACAGG	0.368																																					Ovarian(36;879 898 2893 44212 50307)	ENST00000375147.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19						c.(634-636)ccC>ccT		nuclear cap binding protein subunit 1, 80kDa							127	115	119					9																	100409798		2203	4300	6503	SO:0001819	synonymous_variant	4686				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding	g.chr9:100409798C>T	BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"nuclear cap binding protein subunit 1, 80kD"	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.636C>T	9.37:g.100409798C>T							p.P212P	NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN			7	892	+		Acute lymphoblastic leukemia(62;0.158)	212			MIF4G.		B2R718|Q59G76|Q5T1V0|Q5T7X2	Silent	SNP	ENST00000375147.3	37	c.636C>T	CCDS6728.1																																																																																				0.368	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053337.1	NM_002486		3	77	0	0	0	0.000602	0	3	77					T	100409798	C	T	100409798	2	4	209	1	0	0	0	0	0	0	0	1	10211	581	21	2		2	NCBP1	9	100409798	Silent	SNP	C	TCGA-EL-A3D6-01A-12D-A202-08	5381987	100409798	40803633	13	4371											
OR13F1	138805	broad.mit.edu	37	chr9	107267381	107267381	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatggctttggtgtatgccGgacaaacccccatgttgaat	10	9	0	1	rs142994537		TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr9:107267381G>A	ENST00000334726.2	+	1	927	c.838G>A	c.(838-840)Gga>Aga	p.G280R		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGTGTATGCCGGACAAACCCC	0.428																																						ENST00000334726.2																			0				endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(838-840)Gga>Aga		olfactory receptor, family 13, subfamily F, member 1		G	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	72	71	71		838	4.3	0.2	9	dbSNP_134	71	0,8600		0,0,4300	yes	missense	OR13F1	NM_001004485.1	125	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	280/320	107267381	1,13005	2203	4300	6503	SO:0001583	missense	138805				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107267381G>A		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"GPCR / Class A : Olfactory receptors"	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.838G>A	9.37:g.107267381G>A	ENSP00000334452:p.Gly280Arg						p.G280R	NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN			1	927	+			280					Q6IF50	Missense_Mutation	SNP	ENST00000334726.2	37	c.838G>A	CCDS35087.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.966815	0.34659	2.27E-4	0.0	ENSG00000186881	ENST00000334726	T	0.36878	1.23	4.3	4.3	0.51218	GPCR, rhodopsin-like superfamily (1);	0.449691	0.18713	N	0.133238	T	0.43389	0.1245	L	0.29908	0.895	0.09310	N	1	D	0.62365	0.991	P	0.57960	0.83	T	0.29488	-1.0010	10	0.87932	D	0	.	15.0807	0.72113	0.0:0.0:1.0:0.0	.	280	Q8NGS4	O13F1_HUMAN	R	280	ENSP00000334452:G280R	ENSP00000334452:G280R	G	+	1	0	OR13F1	106307202	0.001000	0.12720	0.208000	0.23602	0.152000	0.21847	0.996000	0.29719	2.681000	0.91329	0.655000	0.94253	GGA		0.428	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1			10	83	0	0	0	0.010729	0	10	83					A	107267381	G	A	107267381	3	1	209	1	0	0	0	0	1	0	0	0	10941	1117	39	1	840	1	OR13F1	9	107267381	Missense_Mutation	SNP	G	TCGA-EL-A3D6-01A-12D-A202-08	6857583	107267381	33946050	14	4372											
SVEP1	79987	broad.mit.edu	37	chr9	113208159	113208159	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtattgtcgctgccgttaTcaactgcataggagattggt	12	7	1	1			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr9:113208159T>C	ENST00000401783.2	-	26	4757	c.4421A>G	c.(4420-4422)gAt>gGt	p.D1474G	SVEP1_ENST00000374469.1_Missense_Mutation_p.D1451G|SVEP1_ENST00000302728.8_Missense_Mutation_p.D1474G|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1474	Pentaxin.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCTGCCGTTATCAACTGCATA	0.453																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(4420-4422)gAt>gGt		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							173	166	169					9																	113208159		1963	4161	6124	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113208159T>C	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.4421A>G	9.37:g.113208159T>C	ENSP00000384917:p.Asp1474Gly					SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.D1474G|SVEP1_ENST00000374469.1_Missense_Mutation_p.D1451G	p.D1474G	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			26	4757	-			1474			Pentaxin.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.4421A>G	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	T	15.29	2.789199	0.49997	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	T;T;T	0.72394	0.16;0.16;-0.65	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.190460	0.56097	D	0.000038	T	0.60353	0.2262	N	0.17278	0.47	0.42889	D	0.994191	P;B	0.40578	0.722;0.324	B;B	0.42163	0.378;0.305	T	0.64508	-0.6391	10	0.44086	T	0.13	.	15.8924	0.79309	0.0:0.0:0.0:1.0	.	1474;1474	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	G	1474;1451;1474	ENSP00000384917:D1474G;ENSP00000363593:D1451G;ENSP00000304118:D1474G	ENSP00000304118:D1474G	D	-	2	0	SVEP1	112247980	1.000000	0.71417	0.806000	0.32338	0.059000	0.15707	7.591000	0.82666	2.219000	0.72066	0.533000	0.62120	GAT		0.453	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				6	141	0	0	0	0.001168	0	6	141					C	113208159	T	C	113208159	3	2	209	1	0	0	0	0	1	0	0	0	15417	1435	50	3	6386	3	SVEP1	9	113208159	Missense_Mutation	SNP	T	TCGA-EL-A3D6-01A-12D-A202-08	5940778	113208159	28005272	15	4373											
JMJD1C	221037	broad.mit.edu	37	chr10	64973913	64973913	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttctatcttatttgccaatcTtctttcaccagtagcttggc	5	11	5	0			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr10:64973913T>A	ENST00000399262.2	-	8	2232	c.2014A>T	c.(2014-2016)Aga>Tga	p.R672*	JMJD1C_ENST00000399251.1_Nonsense_Mutation_p.R453*|JMJD1C_ENST00000542921.1_Nonsense_Mutation_p.R490*|JMJD1C_ENST00000489372.2_5'Flank|JMJD1C_ENST00000402544.1_Nonsense_Mutation_p.R453*	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	672					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)					TTTGCCAATCTTCTTTCACCA	0.388																																						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.(2014-2016)Aga>Tga		jumonji domain containing 1C							145	134	137					10																	64973913		1882	4117	5999	SO:0001587	stop_gained	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.chr10:64973913T>A	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.2014A>T	10.37:g.64973913T>A	ENSP00000382204:p.Arg672*					JMJD1C_ENST00000542921.1_Nonsense_Mutation_p.R490*|JMJD1C_ENST00000402544.1_Nonsense_Mutation_p.R453*|JMJD1C_ENST00000399251.1_Nonsense_Mutation_p.R453*	p.R672*	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			8	2232	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		672					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Nonsense_Mutation	SNP	ENST00000399262.2	37	c.2014A>T	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	T	45	11.916321	0.99617	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	.	.	.	6.11	2.15	0.27550	.	0.161513	0.53938	D	0.000042	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.5233	13.5488	0.61719	0.0:0.0:0.3527:0.6473	.	.	.	.	X	672;453;453;490	.	ENSP00000382195:R453X	R	-	1	2	JMJD1C	64643919	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.908000	0.48750	1.095000	0.41419	0.533000	0.62120	AGA		0.388	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		21	95	0	0	0	0.00278	0	21	95					A	64973913	T	A	64973913	4	1	209	1	0	0	0	0	0	1	0	0	7950	1617	56	5	5684	5	JMJD1C	10	64973913	Nonsense_Mutation	SNP	T	TCGA-EL-A3D6-01A-12D-A202-08		64973913	70560834	16	4374											
GLRX3	10539	broad.mit.edu	37	chr10	131943568	131943568	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagctaaagaactccctcaAgtttcatttgtgaaggtatt	7	7	2	2			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr10:131943568A>G	ENST00000368644.1	+	2	208	c.186A>G	c.(184-186)caA>caG	p.Q62Q	GLRX3_ENST00000331244.5_Silent_p.Q62Q	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3	62	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|regulation of the force of heart contraction (GO:0002026)	extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	electron carrier activity (GO:0009055)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		AACTCCCTCAAGTTTCATTTG	0.428																																						ENST00000368644.1																			0				endometrium(1)|large_intestine(5)|lung(7)	13						c.(184-186)caA>caG		glutaredoxin 3							94	94	94					10																	131943568		2203	4300	6503	SO:0001819	synonymous_variant	10539				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity	g.chr10:131943568A>G	AJ010841	CCDS7661.1	10q26	2009-05-29	2007-08-16	2007-08-16	ENSG00000108010	ENSG00000108010			15987	protein-coding gene	gene with protein product	"glutaredoxin 4"	612754	"thioredoxin-like 2"	TXNL2		10636891, 11124703	Standard	NM_006541		Approved	PICOT, bA500G10.4, GRX3, GLRX4, GRX4	uc001lkm.2	O76003	OTTHUMG00000019267	ENST00000368644.1:c.186A>G	10.37:g.131943568A>G						GLRX3_ENST00000331244.5_Silent_p.Q62Q	p.Q62Q	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00218)	2	208	+		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)	62			Thioredoxin.		B3KMP7|B3KMQ5|D3DRG2|Q5JV01|Q96CE0|Q9P1B0|Q9P1B1	Silent	SNP	ENST00000368644.1	37	c.186A>G	CCDS7661.1																																																																																				0.428	GLRX3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051021.1	NM_006541		3	57	0	0	0	0.004672	0	3	57					G	131943568	A	G	131943568	2	3	209	1	0	0	0	0	0	0	0	1	6461	69	3	3		3	GLRX3	10	131943568	Silent	SNP	A	TCGA-EL-A3D6-01A-12D-A202-08	66969655	131943568	3591179	17	4375											
TSPAN32	10077	broad.mit.edu	37	chr11	2334910	2334910	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgccatgctggacacctaCgacctggtatatgagcaggc	12	12	0	1	rs147630481		TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr11:2334910C>T	ENST00000182290.4	+	5	518	c.381C>T	c.(379-381)taC>taT	p.Y127Y	TSPAN32_ENST00000483227.1_3'UTR|TSPAN32_ENST00000381121.3_Silent_p.Y127Y|TSPAN32_ENST00000451520.2_Silent_p.Y116Y	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	127					cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|defense response to protozoan (GO:0042832)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|platelet aggregation (GO:0070527)|regulation of defense response to virus (GO:0050688)	cell surface (GO:0009986)|integrin alphaIIb-beta3 complex (GO:0070442)|intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		TGGACACCTACGACCTGGTAT	0.672																																						ENST00000182290.4																			0				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8						c.(379-381)taC>taT		tetraspanin 32							82	51	62					11																	2334910		2201	4299	6500	SO:0001819	synonymous_variant	10077				cell-cell signaling	integral to membrane		g.chr11:2334910C>T	AF176070	CCDS7733.1	11p15	2013-02-14	2005-08-16	2005-08-16	ENSG00000064201	ENSG00000064201		"Tetraspanins"	13410	protein-coding gene	gene with protein product		603853	"pan-hematopoietic expression"	TSSC6, PHEMX		10072438, 10950922	Standard	NM_139022		Approved		uc001lvy.1	Q96QS1	OTTHUMG00000009762	ENST00000182290.4:c.381C>T	11.37:g.2334910C>T						TSPAN32_ENST00000381121.3_Silent_p.Y127Y|TSPAN32_ENST00000483227.1_3'UTR|TSPAN32_ENST00000451520.2_Silent_p.Y116Y	p.Y127Y	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)	5	518	+		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)	127					Q96KX4|Q9HC50|Q9HC51|Q9Y5U1	Silent	SNP	ENST00000182290.4	37	c.381C>T	CCDS7733.1																																																																																				0.672	TSPAN32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026912.2	NM_139024		8	14	0	0	0	0.010729	0	8	14					T	2334910	C	T	2334910	2	4	209	1	0	0	0	0	0	0	0	1	16644	547	19	1		1	TSPAN32	11	2334910	Silent	SNP	C	TCGA-EL-A3D6-01A-12D-A202-08		2334910	132671606	18	4376											
AHNAK	79026	broad.mit.edu	37	chr11	62284755	62284755	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attaaacttgggcattttgaTcttggactttttcagtttga	8	5	2	2			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr11:62284755T>C	ENST00000378024.4	-	5	17408	c.17134A>G	c.(17134-17136)Atc>Gtc	p.I5712V	AHNAK_ENST00000525875.1_5'UTR|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5712					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGCATTTTGATCTTGGACTTT	0.483																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(17134-17136)Atc>Gtc		AHNAK nucleoprotein							78	81	80					11																	62284755		2201	4299	6500	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62284755T>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.17134A>G	11.37:g.62284755T>C	ENSP00000367263:p.Ile5712Val					AHNAK_ENST00000525875.1_5'UTR|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.I5712V	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	17408	-		Melanoma(852;0.155)	5712					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.17134A>G	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	T	12.58	1.979556	0.34942	.	.	ENSG00000124942	ENST00000378024	T	0.01059	5.39	4.77	3.62	0.41486	.	.	.	.	.	T	0.03390	0.0098	L	0.46741	1.465	0.34604	D	0.716871	P	0.46784	0.884	P	0.62491	0.903	T	0.54180	-0.8332	9	0.28530	T	0.3	.	10.611	0.45421	0.1438:0.0:0.0:0.8562	.	5712	Q09666	AHNK_HUMAN	V	5712	ENSP00000367263:I5712V	ENSP00000367263:I5712V	I	-	1	0	AHNAK	62041331	0.086000	0.21541	0.988000	0.46212	0.876000	0.50452	0.372000	0.20467	0.661000	0.30985	0.448000	0.29417	ATC		0.483	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		3	149	0	0	0	0.004672	0	3	149					C	62284755	T	C	62284755	3	2	209	1	0	0	0	0	1	0	0	0	414	1435	50	3	658	3	AHNAK	11	62284755	Missense_Mutation	SNP	T	TCGA-EL-A3D6-01A-12D-A202-08	59949845	62284755	72721761	19	4377											
COL4A1	1282	broad.mit.edu	37	chr13	110844602	110844602	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tctgccaggcaaacctctgtCgcccttggcccctggctgcc	10	18	2	0			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr13:110844602C>A	ENST00000375820.4	-	24	1616	c.1495G>T	c.(1495-1497)Gac>Tac	p.D499Y	COL4A1_ENST00000543140.1_Missense_Mutation_p.D499Y	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	499	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AAACCTCTGTCGCCCTTGGCC	0.498																																						ENST00000375820.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(1495-1497)Gac>Tac		collagen, type IV, alpha 1							94	83	87					13																	110844602		2203	4300	6503	SO:0001583	missense	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110844602C>A	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.1495G>T	13.37:g.110844602C>A	ENSP00000364979:p.Asp499Tyr					COL4A1_ENST00000543140.1_Missense_Mutation_p.D499Y	p.D499Y	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		24	1616	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	499			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.1495G>T	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.500954	0.64298	.	.	ENSG00000187498	ENST00000375820;ENST00000543140	D;D	0.93763	-3.23;-3.28	5.18	5.18	0.71444	.	0.245077	0.40469	N	0.001086	D	0.96393	0.8823	M	0.72479	2.2	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.96626	0.9463	10	0.62326	D	0.03	.	18.7268	0.91717	0.0:1.0:0.0:0.0	.	499	P02462	CO4A1_HUMAN	Y	499	ENSP00000364979:D499Y;ENSP00000443348:D499Y	ENSP00000364979:D499Y	D	-	1	0	COL4A1	109642603	0.969000	0.33509	0.984000	0.44739	0.993000	0.82548	3.931000	0.56529	2.409000	0.81822	0.655000	0.94253	GAC		0.498	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			9	74	1	0	0.000274275	0.004482	0.00053549	9	74					A	110844602	C	A	110844602	3	1	209	1	0	0	0	0	1	0	0	0	3689	884	31	4	3630	4	COL4A1	13	110844602	Missense_Mutation	SNP	C	TCGA-EL-A3D6-01A-12D-A202-08		110844602	4325276	20	4378											
CTAGE5	4253	broad.mit.edu	37	chr14	39777757	39777757	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agaaacttaaagtaatgactGaattatatcaagaaaatgaa	6	3	1	5			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr14:39777757G>A	ENST00000280083.3	+	13	1473	c.1159G>A	c.(1159-1161)Gaa>Aaa	p.E387K	CTAGE5_ENST00000553352.1_Missense_Mutation_p.E358K|CTAGE5_ENST00000341502.5_Missense_Mutation_p.E387K|CTAGE5_ENST00000556148.1_Missense_Mutation_p.E312K|CTAGE5_ENST00000348007.3_Missense_Mutation_p.E387K|CTAGE5_ENST00000396158.2_Missense_Mutation_p.E392K|CTAGE5_ENST00000557038.1_Missense_Mutation_p.E307K|CTAGE5_ENST00000341749.3_Missense_Mutation_p.E375K|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.E922K|CTAGE5_ENST00000396165.4_Missense_Mutation_p.E358K|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.E358K			O15320	CTGE5_HUMAN	CTAGE family, member 5	387					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		AGTAATGACTGAATTATATCA	0.284																																						ENST00000553728.1																			0											c.(2764-2766)Gaa>Aaa									40	45	44					14																	39777757		2183	4244	6427	SO:0001583	missense	0							g.chr14:39777757G>A	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"meningioma expressed antigen 6 (coiled-coil proline-rich)"	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.1159G>A	14.37:g.39777757G>A	ENSP00000280083:p.Glu387Lys					CTAGE5_ENST00000557038.1_Missense_Mutation_p.E307K|CTAGE5_ENST00000396165.4_Missense_Mutation_p.E358K|CTAGE5_ENST00000348007.3_Missense_Mutation_p.E387K|CTAGE5_ENST00000341749.3_Missense_Mutation_p.E375K|CTAGE5_ENST00000553352.1_Missense_Mutation_p.E358K|CTAGE5_ENST00000556148.1_Missense_Mutation_p.E312K|CTAGE5_ENST00000396158.2_Missense_Mutation_p.E392K|CTAGE5_ENST00000280083.3_Missense_Mutation_p.E387K|CTAGE5_ENST00000341502.5_Missense_Mutation_p.E387K|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.E358K	p.E922K							17	2977	+								B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	ENST00000280083.3	37	c.2764G>A	CCDS9674.1	.	.	.	.	.	.	.	.	.	.	G	32	5.185574	0.94885	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;T;T	0.79352	2.32;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26	5.62	5.62	0.85841	.	.	.	.	.	D	0.89887	0.6845	M	0.89904	3.07	0.50313	D	0.999868	P;P;P;P;D;P	0.63880	0.92;0.92;0.776;0.92;0.993;0.92	P;P;P;P;D;P	0.68039	0.73;0.73;0.469;0.73;0.955;0.73	D	0.91121	0.4930	8	.	.	.	.	17.4578	0.87612	0.0:0.0:1.0:0.0	.	349;392;387;387;358;375	F8W9E1;O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;.;CTGE5_HUMAN;.;.	K	922;375;307;349;358;387;392;387;312;387;358	ENSP00000452252:E922K;ENSP00000343897:E375K;ENSP00000450869:E307K;ENSP00000379468:E358K;ENSP00000339286:E387K;ENSP00000379462:E392K;ENSP00000280083:E387K;ENSP00000452562:E312K;ENSP00000343912:E387K;ENSP00000450449:E358K	.	E	+	1	0	CTAGE5;RP11-407N17.3	38847508	1.000000	0.71417	0.992000	0.48379	0.982000	0.71751	6.773000	0.75006	2.665000	0.90641	0.585000	0.79938	GAA		0.284	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		5	100	0	0	0	0.001168	0	5	100					A	39777757	G	A	39777757	3	1	209	1	0	0	0	0	1	0	0	0	3994	1291	45	2	1240	2	CTAGE5	14	39777757	Missense_Mutation	SNP	G	TCGA-EL-A3D6-01A-12D-A202-08		39777757	67571783	21	4379											
SLC8A3	6547	broad.mit.edu	37	chr14	70522512	70522512	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggacaagacacctcttaCctggagataacaggagcgct	13	10	1	2			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr14:70522512C>T	ENST00000381269.2	-	4	2660		c.e4+1		SLC8A3_ENST00000394330.2_Intron|SLC8A3_ENST00000534137.1_Splice_Site|SLC8A3_ENST00000356921.2_Intron|SLC8A3_ENST00000528359.1_Splice_Site|SLC8A3_ENST00000533541.1_Intron|SLC8A3_ENST00000216568.7_Intron|SLC8A3_ENST00000357887.3_Splice_Site	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3						blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ACACCTCTTACCTGGAGATAA	0.403																																						ENST00000381269.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54						c.e4+1		solute carrier family 8 (sodium/calcium exchanger), member 3							75	74	74					14																	70522512		2203	4300	6503	SO:0001630	splice_region_variant	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70522512C>T	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"Solute carriers"	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1906+1G>A	14.37:g.70522512C>T						SLC8A3_ENST00000357887.3_Splice_Site|SLC8A3_ENST00000533541.1_Intron|SLC8A3_ENST00000534137.1_Splice_Site|SLC8A3_ENST00000394330.2_Intron|SLC8A3_ENST00000356921.2_Intron|SLC8A3_ENST00000528359.1_Splice_Site|SLC8A3_ENST00000216568.7_Intron		NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	4	2660	-								Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Splice_Site	SNP	ENST00000381269.2	37		CCDS35498.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607082	0.66558	.	.	ENSG00000100678	ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3	0.87180	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC8A3	69592265	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	3.505000	0.53356	2.941000	0.99782	0.655000	0.94253	.		0.403	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1		Intron	15	16	0	0	0	0.00499	0	15	16					T	70522512	C	T	70522512	5	4	209	1	0	0	0	0	0	0	1	0	14708	521	18	2	896	2	SLC8A3	14	70522512	Splice_Site	SNP	C	TCGA-EL-A3D6-01A-12D-A202-08	30744755	70522512	36827028	22	4380											
SERPINA1	5265	broad.mit.edu	37	chr14	94847272	94847272	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagttcattttccaggtgctGtagtttcccctcatcaggca	9	11	3	0			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr14:94847272G>A	ENST00000448921.1	-	5	1425	c.853C>T	c.(853-855)Cag>Tag	p.Q285*	SERPINA1_ENST00000555289.1_5'Flank|SERPINA1_ENST00000393088.4_Nonsense_Mutation_p.Q285*|SERPINA1_ENST00000404814.4_Nonsense_Mutation_p.Q285*|SERPINA1_ENST00000402629.1_Nonsense_Mutation_p.Q285*|SERPINA1_ENST00000440909.1_Nonsense_Mutation_p.Q285*|SERPINA1_ENST00000355814.4_Nonsense_Mutation_p.Q285*|SERPINA1_ENST00000437397.1_Nonsense_Mutation_p.Q285*|SERPINA1_ENST00000449399.3_Nonsense_Mutation_p.Q285*|SERPINA1_ENST00000393087.4_Nonsense_Mutation_p.Q285*	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	285					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TCCAGGTGCTGTAGTTTCCCC	0.507																																						ENST00000448921.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24						c.(853-855)Cag>Tag		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	Alpha-1-proteinase inhibitor(DB00058)						156	149	152					14																	94847272		2203	4300	6503	SO:0001587	stop_gained	5265				acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity	g.chr14:94847272G>A	X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"Serine (or cysteine) peptidase inhibitors"	8941	protein-coding gene	gene with protein product	"protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"	107400	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.853C>T	14.37:g.94847272G>A	ENSP00000416066:p.Gln285*					SERPINA1_ENST00000437397.1_Nonsense_Mutation_p.Q285*|SERPINA1_ENST00000402629.1_Nonsense_Mutation_p.Q285*|SERPINA1_ENST00000393087.4_Nonsense_Mutation_p.Q285*|SERPINA1_ENST00000355814.4_Nonsense_Mutation_p.Q285*|SERPINA1_ENST00000440909.1_Nonsense_Mutation_p.Q285*|SERPINA1_ENST00000404814.4_Nonsense_Mutation_p.Q285*|SERPINA1_ENST00000393088.4_Nonsense_Mutation_p.Q285*|SERPINA1_ENST00000449399.3_Nonsense_Mutation_p.Q285*	p.Q285*	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	5	1425	-		all_cancers(154;0.0649)|all_epithelial(191;0.223)	285					A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Nonsense_Mutation	SNP	ENST00000448921.1	37	c.853C>T	CCDS9925.1	.	.	.	.	.	.	.	.	.	.	G	38	6.878248	0.97904	.	.	ENSG00000197249	ENST00000440909;ENST00000448921;ENST00000437397;ENST00000355814;ENST00000393087;ENST00000393088;ENST00000404814;ENST00000449399;ENST00000402629	.	.	.	5.18	-3.82	0.04281	.	0.726457	0.12374	N	0.474528	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	4.1041	0.10028	0.0751:0.292:0.1666:0.4663	.	.	.	.	X	285	.	ENSP00000348068:Q285X	Q	-	1	0	SERPINA1	93917025	0.545000	0.26449	0.000000	0.03702	0.008000	0.06430	0.722000	0.25925	-0.264000	0.09365	0.555000	0.69702	CAG		0.507	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235		12	135	0	0	0	0.001855	0	12	135					A	94847272	G	A	94847272	4	1	209	1	0	0	0	0	0	1	0	0	14086	1386	48	2	415	2	SERPINA1	14	94847272	Nonsense_Mutation	SNP	G	TCGA-EL-A3D6-01A-12D-A202-08	24324760	94847272	12502268	23	4381											
SPATA8	145946	broad.mit.edu	37	chr15	97328316	97328316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagaagataaacaggagaaGtgtcctgtttcacccatatt	8	8	2	3			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr15:97328316G>A	ENST00000328504.3	+	3	554	c.287G>A	c.(286-288)aGt>aAt	p.S96N	SPATA8_ENST00000558553.1_Silent_p.K55K|SPATA8-AS1_ENST00000558722.1_RNA	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	96										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			AACAGGAGAAGTGTCCTGTTT	0.473																																						ENST00000328504.3																			0				large_intestine(4)|lung(8)|ovary(1)|skin(3)	16						c.(286-288)aGt>aAt		spermatogenesis associated 8							168	155	159					15																	97328316		2197	4298	6495	SO:0001583	missense	145946							g.chr15:97328316G>A	AY489187	CCDS10376.1	15q26	2008-02-05			ENSG00000185594	ENSG00000185594			28676	protein-coding gene	gene with protein product		613948					Standard	NM_173499		Approved	MGC44294	uc002bue.3	Q6RVD6	OTTHUMG00000149847	ENST00000328504.3:c.287G>A	15.37:g.97328316G>A	ENSP00000328149:p.Ser96Asn					SPATA8_ENST00000558553.1_Silent_p.K55K	p.S96N	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0718)		3	554	+	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		96					Q2KJ07	Missense_Mutation	SNP	ENST00000328504.3	37	c.287G>A	CCDS10376.1	.	.	.	.	.	.	.	.	.	.	G	9.873	1.199472	0.22121	.	.	ENSG00000185594	ENST00000328504	T	0.35048	1.33	3.52	-1.65	0.08291	.	.	.	.	.	T	0.16128	0.0388	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.19844	-1.0293	9	0.87932	D	0	.	4.1291	0.10141	0.3612:0.2037:0.4351:0.0	.	96	Q6RVD6	SPAT8_HUMAN	N	96	ENSP00000328149:S96N	ENSP00000328149:S96N	S	+	2	0	SPATA8	95129320	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.999000	0.03697	-0.319000	0.08652	-0.257000	0.10917	AGT		0.473	SPATA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313533.1	NM_173499		56	68	0	0	0	0.01441	0	56	68					A	97328316	G	A	97328316	3	1	209	1	0	0	0	0	1	0	0	0	15014	1029	36	2	297	2	SPATA8	15	97328316	Missense_Mutation	SNP	G	TCGA-EL-A3D6-01A-12D-A202-08		97328316	5203076	24	4382											
APOB48R	55911	broad.mit.edu	37	chr16	28507219	28507219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagaggaggccaggacaaCcccaggtagggaagaggcca	16	10	0	2			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr16:28507219C>T	ENST00000431282.1	+	2	867	c.857C>T	c.(856-858)aCc>aTc	p.T286I	APOBR_ENST00000564831.1_Missense_Mutation_p.T286I|CLN3_ENST00000569430.1_5'Flank|APOBR_ENST00000328423.5_Missense_Mutation_p.T286I|CLN3_ENST00000567160.1_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	286	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GCCAGGACAACCCCAGGTAGG	0.632																																						ENST00000564831.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						c.(856-858)aCc>aTc		apolipoprotein B receptor							26	29	28					16																	28507219		1994	4148	6142	SO:0001583	missense	55911				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle		g.chr16:28507219C>T	AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"apolipoprotein B48 receptor", "apolipoprotein B100 receptor"	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.857C>T	16.37:g.28507219C>T	ENSP00000416094:p.Thr286Ile					APOBR_ENST00000328423.5_Missense_Mutation_p.T286I|APOBR_ENST00000431282.1_Missense_Mutation_p.T286I	p.T286I	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN			2	890	+			286			Glu-rich.		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	ENST00000431282.1	37	c.857C>T		.	.	.	.	.	.	.	.	.	.	C	8.836	0.941155	0.18281	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.58652	0.32;0.32	3.62	-0.854	0.10705	.	.	.	.	.	T	0.30479	0.0766	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.17319	-1.0373	7	0.31617	T	0.26	.	4.0835	0.09937	0.0:0.3338:0.3386:0.3277	.	.	.	.	I	286	ENSP00000327669:T286I;ENSP00000416094:T286I	ENSP00000327669:T286I	T	+	2	0	APOBR	28414720	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.301000	0.02749	-0.220000	0.09988	-0.364000	0.07487	ACC		0.632	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_182804		11	16	0	0	0	0.008291	0	11	16					T	28507219	C	T	28507219	3	4	209	1	0	0	0	0	1	0	0	0	786	507	18	2	863	2	APOB48R	16	28507219	Missense_Mutation	SNP	C	TCGA-EL-A3D6-01A-12D-A202-08		28507219	61847534	25	4383											
LONP2	83752	broad.mit.edu	37	chr16	48311247	48311247	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgtgctacttgctttctctAggcgcacctatgttggcagc	10	11	1	0			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr16:48311247A>T	ENST00000285737.4	+	8	1334		c.e8-1		LONP2_ENST00000535754.1_Splice_Site	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TGCTTTCTCTAGGCGCACCTA	0.463																																						ENST00000285737.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.e8-1		lon peptidase 2, peroxisomal							104	96	99					16																	48311247		2200	4300	6500	SO:0001630	splice_region_variant	83752				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	g.chr16:48311247A>T	AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"ATPases / AAA-type"	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.1242-1A>T	16.37:g.48311247A>T						LONP2_ENST00000535754.1_Splice_Site		NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN			8	1334	+									Splice_Site	SNP	ENST00000285737.4	37		CCDS10734.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.062798	0.76187	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754;ENST00000416006	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.162	0.81727	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LONP2	46868748	1.000000	0.71417	0.930000	0.37139	0.645000	0.38454	9.287000	0.95975	2.224000	0.72417	0.533000	0.62120	.		0.463	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490	Intron	4	85	0	0	0	0.009096	0	4	85					T	48311247	A	T	48311247	5	4	209	1	0	0	0	0	0	0	1	0	8893	434	15	5	1270	5	LONP2	16	48311247	Splice_Site	SNP	A	TCGA-EL-A3D6-01A-12D-A202-08	19804028	48311247	42043506	26	4384											
LONP2	83752	broad.mit.edu	37	chr16	48381506	48381506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catgttcgtggaggcgagtcGaatggatggcgagggccagt	18	7	0	0			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr16:48381506G>A	ENST00000285737.4	+	13	2120	c.2027G>A	c.(2026-2028)cGa>cAa	p.R676Q	LONP2_ENST00000535754.1_Missense_Mutation_p.R632Q	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GAGGCGAGTCGAATGGATGGC	0.557																																						ENST00000285737.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(2026-2028)cGa>cAa		lon peptidase 2, peroxisomal							129	128	128					16																	48381506		2200	4300	6500	SO:0001583	missense	83752				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	g.chr16:48381506G>A	AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"ATPases / AAA-type"	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.2027G>A	16.37:g.48381506G>A	ENSP00000285737:p.Arg676Gln					LONP2_ENST00000535754.1_Missense_Mutation_p.R632Q	p.R676Q	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN			13	2120	+			676						Missense_Mutation	SNP	ENST00000285737.4	37	c.2027G>A	CCDS10734.1	.	.	.	.	.	.	.	.	.	.	G	35	5.453446	0.96223	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754	T;T	0.29655	1.56;1.56	6.06	6.06	0.98353	Ribosomal protein S5 domain 2-type fold (1);Peptidase S16, Lon C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.47414	0.1444	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.65323	0.934;0.934	T	0.07578	-1.0765	10	0.12766	T	0.61	-11.7093	20.6208	0.99490	0.0:0.0:1.0:0.0	.	632;676	B7ZKL7;Q86WA8	.;LONP2_HUMAN	Q	676;405;632	ENSP00000285737:R676Q;ENSP00000445426:R632Q	ENSP00000285737:R676Q	R	+	2	0	LONP2	46939007	1.000000	0.71417	0.995000	0.50966	0.931000	0.56810	7.856000	0.86956	2.882000	0.98803	0.655000	0.94253	CGA		0.557	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490		4	100	0	0	0	0.000602	0	4	100					A	48381506	G	A	48381506	3	1	209	1	0	0	0	0	1	0	0	0	8893	1058	37	1	2077	1	LONP2	16	48381506	Missense_Mutation	SNP	G	TCGA-EL-A3D6-01A-12D-A202-08	70259	48381506	41973247	27	4385											
TP53	7157	broad.mit.edu	37	chr17	7572986	7572986	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttatggcgggaggtagactGaccctttttggacttcaggt	13	7	1	2			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr17:7572986G>A	ENST00000269305.4	-	11	1312	c.1123C>T	c.(1123-1125)Cag>Tag	p.Q375*	TP53_ENST00000420246.2_3'UTR|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q375*|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron	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	375	Basic (repression of DNA-binding).|Interaction with CARM1.				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.0?(8)|p.?(1)|p.Q375*(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)	GAGGTAGACTGACCCTTTTTG	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)	ENST00000269305.4		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"		10	Whole gene deletion(8)|Substitution - Nonsense(1)|Unknown(1)	p.0?(8)|p.?(1)|p.Q375*(1)	bone(4)|haematopoietic_and_lymphoid_tissue(2)|central_nervous_system(2)|urinary_tract(1)|stomach(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						c.(1123-1125)Cag>Tag	Other conserved DNA damage response genes	tumor protein p53							193	173	180					17																	7572986		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7572986G>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.1123C>T	17.37:g.7572986G>A	ENSP00000269305:p.Gln375*	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_ENST00000445888.2_Nonsense_Mutation_p.Q375*|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron	p.Q375*	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		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	11	1312	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	375			Basic (repression of DNA-binding).|Interaction with CARM1.		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.1123C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079412	0.76528	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473;ENST00000419024	.	.	.	5.31	3.18	0.36537	.	0.952987	0.08806	N	0.891079	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-7.9939	7.7108	0.28677	0.0:0.1941:0.6294:0.1765	.	.	.	.	X	375;375;364;26	.	ENSP00000269305:Q375X	Q	-	1	0	TP53	7513711	0.963000	0.33076	0.841000	0.33234	0.615000	0.37417	1.786000	0.38694	1.427000	0.47276	0.561000	0.74099	CAG		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		6	142	0	0	0	0.001984	0	6	142					A	7572986	G	A	7572986	4	1	209	1	0	0	0	0	0	1	0	0	16378	1299	45	2	62	2	TP53	17	7572986	Nonsense_Mutation	SNP	G	TCGA-EL-A3D6-01A-12D-A202-08		7572986	73622224	28	4386											
MRPL38	64978	broad.mit.edu	37	chr17	73895623	73895623	+	Frame_Shift_Del	DEL	G	G	-													gaggggcgtgcgtcctcagaGaagtcaatcggctggtcctg							TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr17:73895623delG	ENST00000309352.3	-	7	1380	c.843delC	c.(841-843)ttcfs	p.F281fs	MRPL38_ENST00000585475.1_5'Flank|RP11-552F3.10_ENST00000587267.1_RNA|MRPL38_ENST00000409963.3_Frame_Shift_Del_p.F97fs|TRIM65_ENST00000269383.3_5'Flank	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38	281						mitochondrion (GO:0005739)|ribosome (GO:0005840)				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGTCCTCAGAGAAGTCAATCG	0.617																																						ENST00000309352.3																			0				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5						c.(841-843)ttfs		mitochondrial ribosomal protein L38							73	59	64					17																	73895623		2203	4298	6501	SO:0001589	frameshift_variant	64978					actin cytoskeleton|mitochondrion|ribosome		g.chr17:73895623delG	AB051345	CCDS11733.2	17q23-q25	2012-09-13			ENSG00000204316	ENSG00000204316		"Mitochondrial ribosomal proteins / large subunits"	14033	protein-coding gene	gene with protein product		611844				11543634	Standard	NM_032478		Approved	RPML3, MRP-L3, HSPC262, MGC4810	uc010wso.1	Q96DV4	OTTHUMG00000152977	ENST00000309352.3:c.843delC	17.37:g.73895623delG	ENSP00000308275:p.Phe281fs					RP11-552F3.10_ENST00000587267.1_RNA|MRPL38_ENST00000409963.3_Frame_Shift_Del_p.F97fs	p.F281fs	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)		7	1380	-			281					B3KN96|Q96Q66|Q9P0B9	Frame_Shift_Del	DEL	ENST00000309352.3	37	c.843delC	CCDS11733.2																																																																																				0.617	MRPL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328829.1	NM_032478		10	35						10	35	---	---	---	---	-	73895623	G	-	73895623	7	5	209	1	0	1	0	1	0	0	0	0	9801	933	33	0	311	0	MRPL38	17	73895623	Frame_Shift_Del	DEL	G	TCGA-EL-A3D6-01A-12D-A202-08	66322637	73895623	7299587	29	4387											
EVPL	2125	broad.mit.edu	37	chr17	74015142	74015142	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gccagccgtttttcctctgcCtgccgggggcccaggcagtg	14	15	1	0			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr17:74015142C>G	ENST00000301607.3	-	11	1391		c.e11-1		EVPL_ENST00000586740.1_Splice_Site	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin						epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TTTCCTCTGCCTGCCGGGGGC	0.657																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.e11-1		envoplakin							10	13	12					17																	74015142		2182	4261	6443	SO:0001630	splice_region_variant	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74015142C>G	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.1138-1G>C	17.37:g.74015142C>G						EVPL_ENST00000586740.1_Splice_Site		NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			11	1391	-								A0AUV5	Splice_Site	SNP	ENST00000301607.3	37		CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.415025	0.42817	.	.	ENSG00000167880	ENST00000301607	.	.	.	4.76	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7365	0.85448	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EVPL	71526737	1.000000	0.71417	0.998000	0.56505	0.216000	0.24613	3.653000	0.54446	2.375000	0.81037	0.491000	0.48974	.		0.657	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988	Intron	12	23	0	0	0	0.001855	0	12	23					G	74015142	C	G	74015142	5	3	209	1	0	0	0	0	0	0	1	0	5292	695	24	4	5012	4	EVPL	17	74015142	Splice_Site	SNP	C	TCGA-EL-A3D6-01A-12D-A202-08	119519	74015142	7180068	30	4388											
C19orf57	79173	broad.mit.edu	37	chr19	14015679	14015679	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttgaatgaacgtacctgaGgtccgcagcttcttcctctt	8	11	2	3			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr19:14015679G>A	ENST00000586783.1	-	1	26	c.27C>T	c.(25-27)acC>acT	p.T9T	C19orf57_ENST00000454313.1_Silent_p.T9T|C19orf57_ENST00000346736.2_Silent_p.T9T|CC2D1A_ENST00000589606.1_5'Flank|CC2D1A_ENST00000318003.7_5'Flank|C19orf57_ENST00000591586.1_Silent_p.T9T			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	9					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			ACGTACCTGAGGTCCGCAGCT	0.413																																						ENST00000454313.1																			0				breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(25-27)acC>acT		chromosome 19 open reading frame 57							212	181	192					19																	14015679		2203	4300	6503	SO:0001819	synonymous_variant	79173				multicellular organismal development		protein binding	g.chr19:14015679G>A	BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.27C>T	19.37:g.14015679G>A						C19orf57_ENST00000346736.2_Silent_p.T9T|C19orf57_ENST00000591586.1_Silent_p.T9T|C19orf57_ENST00000586783.1_Silent_p.T9T	p.T9T			Q0VDD7	CS057_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		2	85	-			9					Q13411|Q8N825|Q96D63|Q9BU49	Silent	SNP	ENST00000586783.1	37	c.27C>T																																																																																					0.413	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1	NM_024323		4	129	0	0	0	0.001168	0	4	129					A	14015679	G	A	14015679	2	1	209	1	0	0	0	0	0	0	0	1	1939	987	35	2		2	C19orf57	19	14015679	Silent	SNP	G	TCGA-EL-A3D6-01A-12D-A202-08		14015679	45113304	31	4389											
PROKR2	128674	broad.mit.edu	37	chr20	5283032	5283032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccaggaccgtcttcctgCggcagcgcagccgcttgcga	13	16	1	0	rs146544539	byFrequency	TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr20:5283032C>T	ENST00000217270.3	-	2	808	c.809G>A	c.(808-810)cGc>cAc	p.R270H	PROKR2_ENST00000546004.1_Missense_Mutation_p.R270H	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	270					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CGTCTTCCTGCGGCAGCGCAG	0.597										HNSCC(71;0.22)			C|||	2	0.000399361	0	0	5008	,	,		21104	0		0.001	False		,,,				2504	0.001					ENST00000546004.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						c.(808-810)cGc>cAc		prokineticin receptor 2		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	61	52	55		809	5.1	1.0	20	dbSNP_134	55	0,8600		0,0,4300	no	missense	PROKR2	NM_144773.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	270/385	5283032	1,13005	2203	4300	6503	SO:0001583	missense	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5283032C>T	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"GPCR / Class A : Prokineticin receptors"	15836	protein-coding gene	gene with protein product		607123	"G protein-coupled receptor 73-like 1", "Kallmann syndrome 3 (autosomal dominant)"	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.809G>A	20.37:g.5283032C>T	ENSP00000217270:p.Arg270His	HNSCC(71;0.22)				PROKR2_ENST00000217270.3_Missense_Mutation_p.R270H	p.R270H			Q8NFJ6	PKR2_HUMAN			3	1055	-			270					A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	c.809G>A	CCDS13089.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	27.8	4.867771	0.91587	2.27E-4	0.0	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.72725	-0.68;-0.68	5.05	5.05	0.67936	GPCR, rhodopsin-like superfamily (1);	0.048745	0.85682	D	0.000000	D	0.84579	0.5503	M	0.81614	2.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86918	0.2065	10	0.87932	D	0	.	15.9064	0.79433	0.0:1.0:0.0:0.0	.	270	Q8NFJ6	PKR2_HUMAN	H	270	ENSP00000440790:R270H;ENSP00000217270:R270H	ENSP00000217270:R270H	R	-	2	0	PROKR2	5231032	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.346000	0.79347	2.370000	0.80446	0.655000	0.94253	CGC		0.597	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		9	57	0	0	0	0.006214	0	9	57					T	5283032	C	T	5283032	3	4	209	1	0	0	0	0	1	0	0	0	12553	768	27	1	348	1	PROKR2	20	5283032	Missense_Mutation	SNP	C	TCGA-EL-A3D6-01A-12D-A202-08		5283032	57742488	32	4390											
CDH26	60437	broad.mit.edu	37	chr20	58558037	58558037	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtggatacatccttgattttCaacattaggatcagtgatgt	9	6	2	2			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr20:58558037C>T	ENST00000244047.5	+	5	764	c.453C>T	c.(451-453)ttC>ttT	p.F151F	CDH26_ENST00000348616.4_Silent_p.F151F			Q8IXH8	CAD26_HUMAN	cadherin 26	151	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)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CCTTGATTTTCAACATTAGGA	0.413																																						ENST00000348616.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(451-453)ttC>ttT		cadherin 26							166	166	166					20																	58558037		2203	4300	6503	SO:0001819	synonymous_variant	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58558037C>T	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"Cadherins / Major cadherins"	15902	protein-coding gene	gene with protein product			"cadherin-like 26"				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.453C>T	20.37:g.58558037C>T						CDH26_ENST00000244047.5_Silent_p.F151F	p.F151F	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		5	753	+	all_lung(29;0.00963)		151			Cadherin 1.		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Silent	SNP	ENST00000244047.5	37	c.453C>T																																																																																					0.413	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		9	199	0	0	0	0.006214	0	9	199					T	58558037	C	T	58558037	2	4	209	1	0	0	0	0	0	0	0	1	3110	825	29	2		2	CDH26	20	58558037	Silent	SNP	C	TCGA-EL-A3D6-01A-12D-A202-08	53275005	58558037	4467483	33	4391											
TMPRSS15	5651	broad.mit.edu	37	chr21	19770245	19770245	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcattcttcagattgcttgAtagaaagatctcatctatct	5	8	6	4			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr21:19770245A>T	ENST00000284885.3	-	3	328	c.295T>A	c.(295-297)Tca>Aca	p.S99T		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	99	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					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						AGATTGCTTGATAGAAAGATC	0.244																																						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.(295-297)Tca>Aca		transmembrane protease, serine 15							15	16	16					21																	19770245		2135	4213	6348	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19770245A>T		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.295T>A	21.37:g.19770245A>T	ENSP00000284885:p.Ser99Thr						p.S99T	NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN			3	328	-			99			SEA.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.295T>A	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	A	7.800	0.713433	0.15306	.	.	ENSG00000154646	ENST00000284885;ENST00000422787	T;T	0.34275	1.37;1.37	4.68	3.44	0.39384	SEA (3);	0.371268	0.26048	N	0.026655	T	0.22704	0.0548	L	0.31294	0.92	0.27805	N	0.942355	B	0.18741	0.03	B	0.19946	0.027	T	0.07635	-1.0762	9	.	.	.	.	7.1124	0.25399	0.7999:0.0:0.0:0.2001	.	99	P98073	ENTK_HUMAN	T	99;54	ENSP00000284885:S99T;ENSP00000398253:S54T	.	S	-	1	0	TMPRSS15	18692116	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	1.745000	0.38278	2.076000	0.62316	0.523000	0.50628	TCA		0.244	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		3	9	0	0	0	0.004672	0	3	9					T	19770245	A	T	19770245	3	4	209	1	0	0	0	0	1	0	0	0	16243	333	12	5	2856	5	TMPRSS15	21	19770245	Missense_Mutation	SNP	A	TCGA-EL-A3D6-01A-12D-A202-08		19770245	28359650	34	4392											
HDAC8	55869	broad.mit.edu	37	chrX	71681859	71681859	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagagccttacttacctcatGatctgggatctcagaggata	9	10	3	3			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chrX:71681859G>A	ENST00000373573.3	-	9	1341	c.1000C>T	c.(1000-1002)Cat>Tat	p.H334Y	HDAC8_ENST00000373589.4_Missense_Mutation_p.H243Y|HDAC8_ENST00000429103.2_Missense_Mutation_p.H139Y|HDAC8_ENST00000373583.1_Intron	NM_018486.2	NP_060956.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	334			H -> R (in CDLS5). {ECO:0000269|PubMed:22885700}.		chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cohesin localization to chromatin (GO:0071922)|sister chromatid cohesion (GO:0007062)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|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)|transcription factor binding (GO:0008134)			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	CTTACCTCATGATCTGGGATC	0.483																																						ENST00000373573.3																			0				breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10						c.(1000-1002)Cat>Tat		histone deacetylase 8	Vorinostat(DB02546)						119	94	102					X																	71681859		2203	4300	6503	SO:0001583	missense	55869				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	histone deacetylase activity (H3-K16 specific)|metal ion 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)|transcription factor binding	g.chrX:71681859G>A	AF230097	CCDS14420.1, CCDS55448.1, CCDS55449.1, CCDS55450.1, CCDS55451.1, CCDS55452.1	Xq13	2014-01-29	2002-09-02	2002-09-06	ENSG00000147099	ENSG00000147099			13315	protein-coding gene	gene with protein product		300269	"histone deacetylase-like 1", "Wilson-Turner X-linked mental retardation syndrome"	HDACL1, WTS, MRXS6		10756090, 10922473, 22889856	Standard	NM_001166448		Approved	RPD3	uc004eau.3	Q9BY41	OTTHUMG00000021814	ENST00000373573.3:c.1000C>T	X.37:g.71681859G>A	ENSP00000362674:p.His334Tyr					HDAC8_ENST00000429103.2_Missense_Mutation_p.H139Y|HDAC8_ENST00000373589.4_Missense_Mutation_p.H243Y|HDAC8_ENST00000373583.1_Intron	p.H334Y	NM_018486.2	NP_060956.1	Q9BY41	HDAC8_HUMAN			9	1341	-	Renal(35;0.156)		334					A6ND12|A6ND61|A6NET3|A6NJR3|A8MQ62|B4DKN0|B4DV22|Q86VC8|Q9NP76|Q9NYH4	Missense_Mutation	SNP	ENST00000373573.3	37	c.1000C>T	CCDS14420.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139049	0.77775	.	.	ENSG00000147099	ENST00000373573;ENST00000373589;ENST00000429103;ENST00000373568	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	5.62	5.62	0.85841	Histone deacetylase domain (1);	0.000000	0.85682	D	0.000000	D	0.90338	0.6977	M	0.82323	2.585	0.80722	D	1	D;D;D	0.76494	0.997;0.996;0.999	P;P;P	0.60415	0.703;0.792;0.874	D	0.91271	0.5044	10	0.56958	D	0.05	-14.4908	15.8943	0.79323	0.0:0.0:1.0:0.0	.	243;243;334	B4DKN0;A6NGJ7;Q9BY41	.;.;HDAC8_HUMAN	Y	334;243;139;243	ENSP00000362674:H334Y;ENSP00000362691:H243Y;ENSP00000388459:H139Y;ENSP00000362669:H243Y	ENSP00000362669:H243Y	H	-	1	0	HDAC8	71598584	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.367000	0.97148	2.352000	0.79861	0.594000	0.82650	CAT		0.483	HDAC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057193.2	NM_018486		28	62	0	0	0	0.005443	0	28	62					A	71681859	G	A	71681859	3	1	209	1	0	0	0	0	1	0	0	0	7013	1290	45	2	145	2	HDAC8	23	71681859	Missense_Mutation	SNP	G	TCGA-EL-A3D6-01A-12D-A202-08		71681859	83588701	35	4393											
CSMD2	114784	broad.mit.edu	37	chr1	34011735	34011735	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcttcacagctgaagcgcAtcacagtgcctggatcaaag	10	12	3	1			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr1:34011735A>G	ENST00000373381.4	-	57	9178	c.9002T>C	c.(9001-9003)aTg>aCg	p.M3001T		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2974	Sushi 22. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCTGAAGCGCATCACAGTGCC	0.617																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(9001-9003)aTg>aCg		CUB and Sushi multiple domains 2							75	66	69					1																	34011735		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34011735A>G	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.9002T>C	1.37:g.34011735A>G	ENSP00000362479:p.Met3001Thr						p.M3001T	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			57	9178	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2974			Sushi 22.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.9002T>C		.	.	.	.	.	.	.	.	.	.	A	16.11	3.030891	0.54790	.	.	ENSG00000121904	ENST00000373381	T	0.63913	-0.07	4.97	4.97	0.65823	Complement control module (2);Sushi/SCR/CCP (3);	0.338945	0.31415	N	0.007692	T	0.47746	0.1462	N	0.11698	0.16	0.80722	D	1	B;B	0.22604	0.017;0.072	B;B	0.29524	0.065;0.103	T	0.51301	-0.8723	10	0.87932	D	0	.	13.9925	0.64376	1.0:0.0:0.0:0.0	.	2857;3001	Q7Z408;E7EUA6	CSMD2_HUMAN;.	T	3001	ENSP00000362479:M3001T	ENSP00000241312:M2857T	M	-	2	0	CSMD2	33784322	1.000000	0.71417	0.851000	0.33527	0.789000	0.44602	9.031000	0.93731	2.094000	0.63399	0.528000	0.53228	ATG		0.617	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		34	24	0	0	0	0.045705	0	34	24					G	34011735	A	G	34011735	3	3	210	1	0	0	0	0	1	0	0	0	3945	217	8	3	1949	3	CSMD2	1	34011735	Missense_Mutation	SNP	A	TCGA-EL-A3GO-01A-11D-A202-08		34011735	215238886	1	4394											
KIAA0754	643314	broad.mit.edu	37	chr1	39879301	39879301	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggagcccgcctccccagctGctgcagtgcccaccccagag	11	19	0	1			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr1:39879301G>C	ENST00000530275.1	+	1	3151	c.2956G>C	c.(2956-2958)Gct>Cct	p.A986P	MACF1_ENST00000564288.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	986	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTCCCCAGCTGCTGCAGTGCC	0.716																																						ENST00000530275.1																			0				central_nervous_system(1)|large_intestine(6)|skin(1)	8						c.(2956-2958)Gct>Cct		KIAA0754							5	7	6					1																	39879301		1696	3813	5509	SO:0001583	missense	643314							g.chr1:39879301G>C			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.2956G>C	1.37:g.39879301G>C	ENSP00000431179:p.Ala986Pro					MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000372915.3_Intron	p.A986P	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	3151	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	986			Ala-rich.		E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37	c.2956G>C		.	.	.	.	.	.	.	.	.	.	G	11.63	1.697296	0.30142	.	.	ENSG00000255103	ENST00000530275	T	0.23950	1.88	4.65	-1.2	0.09554	.	.	.	.	.	T	0.11836	0.0288	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.30534	-0.9975	9	0.35671	T	0.21	.	8.0983	0.30842	0.1643:0.5043:0.3315:0.0	.	986	O94854	K0754_HUMAN	P	986	ENSP00000431179:A986P	ENSP00000431179:A986P	A	+	1	0	RP4-562N20.1	39651888	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.878000	0.04192	-0.039000	0.13602	-0.405000	0.06341	GCT		0.716	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		2	16	0	0	0	0.014758	0	2	16					C	39879301	G	C	39879301	3	2	210	1	0	0	0	0	1	0	0	0	8192	1319	46	4	3366	4	KIAA0754	1	39879301	Missense_Mutation	SNP	G	TCGA-EL-A3GO-01A-11D-A202-08	5867566	39879301	209371320	2	4395											
CCDC24	149473	broad.mit.edu	37	chr1	44457888	44457888	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagctctccttgcaggtggCgatgttacgggcactgctcc	12	14	1	0			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr1:44457888C>T	ENST00000372318.3	+	3	302	c.131C>T	c.(130-132)gCg>gTg	p.A44V	SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000372307.3_Intron	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	44										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TTGCAGGTGGCGATGTTACGG	0.642																																						ENST00000372318.3																			0				endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9						c.(130-132)gCg>gTg		coiled-coil domain containing 24							74	80	78					1																	44457888		2203	4300	6503	SO:0001583	missense	149473							g.chr1:44457888C>T		CCDS507.1	1p34.1	2008-02-05			ENSG00000159214	ENSG00000159214			28688	protein-coding gene	gene with protein product						12477932	Standard	NM_152499		Approved	MGC45441	uc001clj.3	Q8N4L8	OTTHUMG00000008299	ENST00000372318.3:c.131C>T	1.37:g.44457888C>T	ENSP00000361392:p.Ala44Val					SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000372306.3_Intron|CCDC24_ENST00000486064.1_3'UTR	p.A44V	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN			3	302	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	44					Q6RWT2	Missense_Mutation	SNP	ENST00000372318.3	37	c.131C>T	CCDS507.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.112732	0.37242	.	.	ENSG00000159214	ENST00000372318	.	.	.	5.12	2.9	0.33743	.	0.669484	0.12224	N	0.488071	T	0.15522	0.0374	N	0.08118	0	0.24330	N	0.995007	B	0.17465	0.022	B	0.12156	0.007	T	0.18618	-1.0331	9	0.24483	T	0.36	-20.9488	2.5045	0.04641	0.3028:0.3782:0.0:0.319	.	44	Q8N4L8	CCD24_HUMAN	V	44	.	ENSP00000361392:A44V	A	+	2	0	CCDC24	44230475	0.334000	0.24739	0.581000	0.28614	0.937000	0.57800	0.082000	0.14847	1.003000	0.39130	0.313000	0.20887	GCG		0.642	CCDC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022865.1	NM_152499		12	120	0	0	0	0.020292	0	12	120					T	44457888	C	T	44457888	3	4	210	1	0	0	0	0	1	0	0	0	2799	768	27	1	137	1	CCDC24	1	44457888	Missense_Mutation	SNP	C	TCGA-EL-A3GO-01A-11D-A202-08	4578587	44457888	204792733	3	4396											
DNAH1	25981	broad.mit.edu	37	chr3	52433173	52433173	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcactctgcagaattttgccCgcaaatttgtcatctccatt	6	12	3	1			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr3:52433173C>A	ENST00000420323.2	+	76	12658	c.12397C>A	c.(12397-12399)Cgc>Agc	p.R4133S		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	4198					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R4197S(1)|p.R4133S(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAATTTTGCCCGCAAATTTGT	0.537																																						ENST00000420323.2																			2	Substitution - Missense(2)	p.R4197S(1)|p.R4133S(1)	lung(2)	cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(12397-12399)Cgc>Agc		dynein, axonemal, heavy chain 1							307	309	309					3																	52433173		1932	4123	6055	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52433173C>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.12397C>A	3.37:g.52433173C>A	ENSP00000401514:p.Arg4133Ser						p.R4133S	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	76	12658	+			4198					B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.12397C>A	CCDS46842.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.52|19.52	3.843842|3.843842	0.71488|0.71488	.|.	.|.	ENSG00000114841|ENSG00000114841	ENST00000273600|ENST00000420323	.|T	.|0.14640	.|2.49	4.5|4.5	3.55|3.55	0.40652|0.40652	.|.	.|0.000000	.|0.64402	.|D	.|0.000020	T|T	0.53981|0.53981	0.1830|0.1830	H|H	0.99507|0.99507	4.6|4.6	0.58432|0.58432	D|D	0.99999|0.99999	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.998	T|T	0.69727|0.69727	-0.5067|-0.5067	6|10	0.87932|0.87932	D|D	0|0	.|.	10.3034|10.3034	0.43665|0.43665	0.3864:0.6136:0.0:0.0|0.3864:0.6136:0.0:0.0	.|.	.|4133;4198	.|C9JXH6;Q9P2D7-2	.|.;.	Q|S	885|4133	.|ENSP00000401514:R4133S	ENSP00000273600:P885Q|ENSP00000401514:R4133S	P|R	+|+	2|1	0|0	DNAH1|DNAH1	52408213|52408213	0.988000|0.988000	0.35896|0.35896	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	1.420000|1.420000	0.34804|0.34804	2.506000|2.506000	0.84524|0.84524	0.655000|0.655000	0.94253|0.94253	CCG|CGC		0.537	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		5	444	1	0	0.00198382	0.02938	0.0042264	5	444					A	52433173	C	A	52433173	3	1	210	1	0	0	0	0	1	0	0	0	4597	652	23	4	12695	4	DNAH1	3	52433173	Missense_Mutation	SNP	C	TCGA-EL-A3GO-01A-11D-A202-08		52433173	145589257	4	4397											
SHQ1	55164	broad.mit.edu	37	chr3	72897455	72897455	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gatggcgatagtcaggaagtCcggatcctggctgaggtcga	16	8	1	1			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr3:72897455C>G	ENST00000325599.8	-	1	176	c.37G>C	c.(37-39)Gac>Cac	p.D13H	SHQ1_ENST00000463369.1_5'Flank	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	13	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				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)		GTCAGGAAGTCCGGATCCTGG	0.657																																						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.(37-39)Gac>Cac		SHQ1, H/ACA ribonucleoprotein assembly factor							73	74	74					3																	72897455		2203	4300	6503	SO:0001583	missense	55164				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding	g.chr3:72897455C>G	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.37G>C	3.37:g.72897455C>G	ENSP00000315182:p.Asp13His						p.D13H	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)	1	176	-		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)	13			CS.		B4DL05|Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	Missense_Mutation	SNP	ENST00000325599.8	37	c.37G>C	CCDS33788.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.180711	0.78677	.	.	ENSG00000144736	ENST00000325599	T	0.34072	1.38	5.81	4.94	0.65067	CS-like domain (1);HSP20-like chaperone (1);	0.258918	0.44097	D	0.000497	T	0.53610	0.1807	M	0.76574	2.34	0.80722	D	1	D	0.63046	0.992	P	0.55871	0.786	T	0.59337	-0.7473	10	0.62326	D	0.03	-12.4143	13.9276	0.63972	0.0:0.9257:0.0:0.0743	.	13	Q6PI26	SHQ1_HUMAN	H	13	ENSP00000315182:D13H	ENSP00000315182:D13H	D	-	1	0	SHQ1	72980145	0.999000	0.42202	0.881000	0.34555	0.096000	0.18686	4.348000	0.59379	1.470000	0.48102	0.655000	0.94253	GAC		0.657	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352310.1	NM_018130		3	120	0	0	0	0.004672	0	3	120					G	72897455	C	G	72897455	3	3	210	1	0	0	0	0	1	0	0	0	14292	855	30	4	1740	4	SHQ1	3	72897455	Missense_Mutation	SNP	C	TCGA-EL-A3GO-01A-11D-A202-08	20464282	72897455	125124975	5	4398											
SLITRK3	22865	broad.mit.edu	37	chr3	164906194	164906194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctttttccagcaaggtccGgtagttactatggttctcct	8	11	2	0	rs200230304	byFrequency	TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr3:164906194G>A	ENST00000475390.1	-	2	2868	c.2425C>T	c.(2425-2427)Cgg>Tgg	p.R809W	SLITRK3_ENST00000241274.3_Missense_Mutation_p.R809W			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	809					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AGCAAGGTCCGGTAGTTACTA	0.557										HNSCC(40;0.11)			G|||	2	0.000399361	0	0.0014	5008	,	,		18760	0		0	False		,,,				2504	0.001					ENST00000475390.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(2425-2427)Cgg>Tgg		SLIT and NTRK-like family, member 3							91	95	94					3																	164906194		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164906194G>A	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2425C>T	3.37:g.164906194G>A	ENSP00000420091:p.Arg809Trp	HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_Missense_Mutation_p.R809W	p.R809W			O94933	SLIK3_HUMAN			2	2868	-			809					Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.2425C>T	CCDS3197.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	14.51	2.556862	0.45590	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.59083	0.29;0.29	5.65	3.85	0.44370	.	0.000000	0.34338	N	0.004049	T	0.58666	0.2138	N	0.24115	0.695	0.47994	D	0.999561	D	0.89917	1.0	D	0.75020	0.985	T	0.60571	-0.7237	10	0.87932	D	0	-13.7172	7.3709	0.26800	0.0762:0.0:0.5278:0.3961	.	809	O94933	SLIK3_HUMAN	W	809	ENSP00000420091:R809W;ENSP00000241274:R809W	ENSP00000241274:R809W	R	-	1	2	SLITRK3	166388888	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.961000	0.29267	0.923000	0.37045	0.655000	0.94253	CGG		0.557	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		4	117	0	0	0	0.009096	0	4	117					A	164906194	G	A	164906194	3	1	210	1	0	0	0	0	1	0	0	0	14744	1115	39	1	512	1	SLITRK3	3	164906194	Missense_Mutation	SNP	G	TCGA-EL-A3GO-01A-11D-A202-08	92008739	164906194	33116236	6	4399											
TECPR1	25851	broad.mit.edu	37	chr7	97858474	97858474	+	Frame_Shift_Del	DEL	A	A	-													gtggcctcccatctgccgccAaaacctggaaggatgggaga							TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr7:97858474delA	ENST00000447648.2	-	16	2586	c.2287delT	c.(2287-2289)tggfs	p.W763fs	TECPR1_ENST00000479975.1_5'Flank|TECPR1_ENST00000542604.1_Frame_Shift_Del_p.W693fs|TECPR1_ENST00000379795.3_Frame_Shift_Del_p.W764fs			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	763					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ATCTGCCGCCAAAACCTGGAA	0.642																																						ENST00000447648.2																			0				central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2287-2289)ggfs		tectonin beta-propeller repeat containing 1							18	23	21					7																	97858474		1922	4094	6016	SO:0001589	frameshift_variant	25851					integral to membrane	protein binding	g.chr7:97858474delA		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.2287delT	7.37:g.97858474delA	ENSP00000404923:p.Trp763fs					TECPR1_ENST00000542604.1_Frame_Shift_Del_p.W693fs|TECPR1_ENST00000379795.3_Frame_Shift_Del_p.W764fs	p.W763fs			Q7Z6L1	TCPR1_HUMAN			16	2586	-			763					A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Frame_Shift_Del	DEL	ENST00000447648.2	37	c.2287delT	CCDS47648.1																																																																																				0.642	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		2	4						2	4	---	---	---	---	-	97858474	A	-	97858474	7	5	210	1	0	1	0	1	0	0	0	0	15740	130	5	0	1254	0	TECPR1	7	97858474	Frame_Shift_Del	DEL	A	TCGA-EL-A3GO-01A-11D-A202-08		97858474	61280189	7	4400											
BRAF	673	broad.mit.edu	37	chr7	140481431	140481431	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccagatccaattctttgtccCactgtaatctgcccatcagg	6	14	3	1			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr7:140481431C>G	ENST00000288602.6	-	11	1437	c.1377G>C	c.(1375-1377)gtG>gtC	p.V459V		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	459	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TTCTTTGTCCCACTGTAATCT	0.403		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6		61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	0				NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1375-1377)gtG>gtC		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						167	144	152					7																	140481431		2203	4300	6503	SO:0001819	synonymous_variant	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140481431C>G	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1377G>C	7.37:g.140481431C>G							p.V459V	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			11	1437	-	Melanoma(164;0.00956)		459			Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Silent	SNP	ENST00000288602.6	37	c.1377G>C	CCDS5863.1	.	.	.	.	.	.	.	.	.	.	C	9.387	1.074473	0.20227	.	.	ENSG00000157764	ENST00000496384	.	.	.	5.62	2.48	0.30137	.	.	.	.	.	T	0.67458	0.2895	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65487	-0.6156	4	.	.	.	.	13.5723	0.61853	0.6435:0.3565:0.0:0.0	.	.	.	.	S	67	.	.	W	-	2	0	BRAF	140127900	0.971000	0.33674	1.000000	0.80357	0.998000	0.95712	0.209000	0.17435	0.678000	0.31325	0.585000	0.79938	TGG		0.403	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		3	122	0	0	0	0.014758	0	3	122					G	140481431	C	G	140481431	2	3	210	1	0	0	0	0	0	0	0	1	1496	581	21	4		4	BRAF	7	140481431	Silent	SNP	C	TCGA-EL-A3GO-01A-11D-A202-08	42622957	140481431	18657232	8	4401											
OR51F1	256892	broad.mit.edu	37	chr11	4790251	4790251	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agcatagccttgcggatttgTtttgtttttacactgtcgat	9	7	0	0			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr11:4790251T>A	ENST00000380383.1	-	1	917	c.918A>T	c.(916-918)aaA>aaT	p.K306N	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.K299N			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	306						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGCGGATTTGTTTTGTTTTTA	0.438																																						ENST00000380383.1																			0				kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22						c.(916-918)aaA>aaT		olfactory receptor, family 51, subfamily F, member 1							95	93	94					11																	4790251		2201	4298	6499	SO:0001583	missense	256892					integral to membrane	olfactory receptor activity	g.chr11:4790251T>A	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"GPCR / Class A : Olfactory receptors"	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.918A>T	11.37:g.4790251T>A	ENSP00000369744:p.Lys306Asn					MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.K299N	p.K306N			A6NLW9	A6NLW9_HUMAN		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)	1	917	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	299						Missense_Mutation	SNP	ENST00000380383.1	37	c.918A>T		.	.	.	.	.	.	.	.	.	.	T	10.25	1.299244	0.23650	.	.	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.45668	0.89;0.89	5.43	3.05	0.35203	.	0.114281	0.39475	N	0.001349	T	0.50411	0.1614	M	0.85630	2.765	0.28435	N	0.917072	D	0.56287	0.975	P	0.48368	0.575	T	0.54529	-0.8280	10	0.87932	D	0	.	7.45	0.27234	0.0:0.0911:0.1526:0.7562	.	306	A6NGY5	O51F1_HUMAN	N	299;306	ENSP00000345163:K299N;ENSP00000369744:K306N	ENSP00000345163:K299N	K	-	3	2	OR51F1	4746827	0.049000	0.20398	1.000000	0.80357	0.035000	0.12851	-0.072000	0.11486	1.071000	0.40834	0.533000	0.62120	AAA		0.438	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752		37	50	0	0	0	0.09836	0	37	50					A	4790251	T	A	4790251	3	1	210	1	0	0	0	0	1	0	0	0	11096	1722	60	5	44	5	OR51F1	11	4790251	Missense_Mutation	SNP	T	TCGA-EL-A3GO-01A-11D-A202-08		4790251	130216265	9	4402											
SBF2	81846	broad.mit.edu	37	chr11	9812167	9812167	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctcttgtgcattctgtcaAtacattcccaaatacagact	4	12	3	1			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr11:9812167A>C	ENST00000256190.8	-	34	4771	c.4634T>G	c.(4633-4635)aTt>aGt	p.I1545S	SBF2-AS1_ENST00000525636.1_RNA|SBF2-AS1_ENST00000526617.1_RNA|SBF2-AS1_ENST00000499953.2_RNA|SBF2-AS1_ENST00000534671.1_RNA|SBF2-AS1_ENST00000498905.2_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1545	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CATTCTGTCAATACATTCCCA	0.294																																						ENST00000256190.8																			0				breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(4633-4635)aTt>aGt		SET binding factor 2							82	100	94					11																	9812167		2201	4285	6486	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9812167A>C	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	2135	protein-coding gene	gene with protein product	"myotubularin related 13"	607697	"Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)", "DENN/MADD domain containing 7B"	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.4634T>G	11.37:g.9812167A>C	ENSP00000256190:p.Ile1545Ser					SBF2-AS1_ENST00000525636.1_RNA|SBF2-AS1_ENST00000526617.1_RNA|SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000499953.2_RNA|SBF2-AS1_ENST00000534671.1_RNA	p.I1545S	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	34	4771	-			1545			Myotubularin phosphatase.		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.4634T>G	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.124350	0.56613	.	.	ENSG00000133812	ENST00000256190	D	0.91068	-2.78	6.17	6.17	0.99709	Myotubularin phosphatase domain (1);	0.041747	0.85682	D	0.000000	D	0.90219	0.6942	M	0.65975	2.015	0.80722	D	1	B	0.28439	0.212	B	0.28139	0.086	D	0.88496	0.3079	10	0.87932	D	0	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	1545	Q86WG5	MTMRD_HUMAN	S	1545	ENSP00000256190:I1545S	ENSP00000256190:I1545S	I	-	2	0	SBF2	9768743	1.000000	0.71417	1.000000	0.80357	0.426000	0.31534	8.962000	0.93254	2.371000	0.80710	0.533000	0.62120	ATT		0.294	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		3	155	0	0	0	0.004672	0	3	155					C	9812167	A	C	9812167	3	2	210	1	0	0	0	0	1	0	0	0	13859	101	4	5	943	5	SBF2	11	9812167	Missense_Mutation	SNP	A	TCGA-EL-A3GO-01A-11D-A202-08	5021916	9812167	125194349	10	4403											
DYNC2H1	79659	broad.mit.edu	37	chr11	103029464	103029464	+	Frame_Shift_Del	DEL	G	G	-													caacattaactactcatgctGgaataagaaattctctacta							TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr11:103029464delG	ENST00000375735.2	+	27	4330	c.4186delG	c.(4186-4188)ggafs	p.G1396fs	DYNC2H1_ENST00000398093.3_Frame_Shift_Del_p.G1396fs|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	1396	Stem. {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)		TACTCATGCTGGAATAAGAAA	0.269																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(4186-4188)gafs		dynein, cytoplasmic 2, heavy chain 1							15	15	15					11																	103029464		1776	4010	5786	SO:0001589	frameshift_variant	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.chr11:103029464delG	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.4186delG	11.37:g.103029464delG	ENSP00000364887:p.Gly1396fs					DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Frame_Shift_Del_p.G1396fs	p.G1396fs	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)	27	4330	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	1396			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Frame_Shift_Del	DEL	ENST00000375735.2	37	c.4186delG	CCDS53701.1																																																																																				0.269	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		2	4						2	4	---	---	---	---	-	103029464	G	-	103029464	7	5	210	1	0	1	0	1	0	0	0	0	4846	1349	47	0	4292	0	DYNC2H1	11	103029464	Frame_Shift_Del	DEL	G	TCGA-EL-A3GO-01A-11D-A202-08	93217297	103029464	31977052	11	4404											
DICER1	23405	broad.mit.edu	37	chr14	95557639	95557639	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	agcaagcgactcaaaaatatCccccatggcctttggaactt	7	12	1	0			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr14:95557639C>G	ENST00000526495.1	-	27	5719	c.5428G>C	c.(5428-5430)Gat>Cat	p.D1810H	DICER1_ENST00000393063.1_Missense_Mutation_p.D1810H|DICER1_ENST00000541352.1_Intron|DICER1_ENST00000556045.1_Missense_Mutation_p.D708H|DICER1_ENST00000527416.2_5'UTR|DICER1_ENST00000527414.1_Missense_Mutation_p.D1810H|DICER1_ENST00000343455.3_Missense_Mutation_p.D1810H			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1810	RNase III 2. {ECO:0000255|PROSITE- ProRule:PRU00177}.		D -> H (in non-epithelial ovarian tumor; somatic mutation). {ECO:0000269|PubMed:22187960}.|D -> N (in non-epithelial ovarian tumor; somatic mutation). {ECO:0000269|PubMed:22187960}.|D -> Y (in non-epithelial ovarian tumor; somatic mutation). {ECO:0000269|PubMed:22187960}.		angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TCAAAAATATCCCCCATGGCC	0.458			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"Mis F, N"	"dicer 1, ribonuclease type III "			"E, M, O"		pleuropulmonary blastoma	"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(5428-5430)Gat>Cat		dicer 1, ribonuclease type III							226	231	229					14																	95557639		2203	4300	6503	SO:0001583	missense	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95557639C>G	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.5428G>C	14.37:g.95557639C>G	ENSP00000437256:p.Asp1810His					DICER1_ENST00000541352.1_Intron|DICER1_ENST00000527416.2_5'UTR|DICER1_ENST00000393063.1_Missense_Mutation_p.D1810H|DICER1_ENST00000343455.3_Missense_Mutation_p.D1810H|DICER1_ENST00000556045.1_Missense_Mutation_p.D708H|DICER1_ENST00000527414.1_Missense_Mutation_p.D1810H	p.D1810H			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	27	5719	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1810			RNase III 2.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.5428G>C	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931478	0.92389	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045	D;D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.79;-2.79	5.6	5.6	0.85130	Ribonuclease III (5);	0.050139	0.85682	D	0.000000	D	0.97854	0.9295	H	0.99475	4.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99421	1.0933	10	0.87932	D	0	-24.389	19.6256	0.95677	0.0:1.0:0.0:0.0	.	708;1810	B3KRG4;Q9UPY3	.;DICER_HUMAN	H	1810;1810;1810;1810;708	ENSP00000343745:D1810H;ENSP00000437256:D1810H;ENSP00000376783:D1810H;ENSP00000435681:D1810H;ENSP00000451041:D708H	ENSP00000343745:D1810H	D	-	1	0	DICER1	94627392	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	7.316000	0.79007	2.605000	0.88082	0.655000	0.94253	GAT		0.458	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			92	167	0	0	0	0.048971	0	92	167					G	95557639	C	G	95557639	3	3	210	1	0	0	0	0	1	0	0	0	4521	855	30	4	352	4	DICER1	14	95557639	Missense_Mutation	SNP	C	TCGA-EL-A3GO-01A-11D-A202-08		95557639	11791901	12	4405											
DICER1	23405	broad.mit.edu	37	chr14	95590777	95590781	+	Frame_Shift_Del	DEL	TTACT	TTACT	-													taagatttcgagcagtttgaTtactttaggagttacaaatt							TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr14:95590777_95590781delTTACT	ENST00000526495.1	-	10	1419_1423	c.1128_1132delAGTAA	c.(1126-1134)aaagtaatcfs	p.KVI376fs	DICER1_ENST00000393063.1_Frame_Shift_Del_p.KVI376fs|DICER1_ENST00000541352.1_Frame_Shift_Del_p.KVI376fs|DICER1_ENST00000527414.1_Frame_Shift_Del_p.KVI376fs|DICER1_ENST00000343455.3_Frame_Shift_Del_p.KVI376fs			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	376	Required for interaction with PRKRA and TARBP2.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AGCAGTTTGATTACTTTAGGAGTTA	0.351			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"Mis F, N"	"dicer 1, ribonuclease type III "			"E, M, O"		pleuropulmonary blastoma	"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(1126-1134)aatcfs		dicer 1, ribonuclease type III																																				SO:0001589	frameshift_variant	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95590777_95590781delTTACT	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.1128_1132delAGTAA	14.37:g.95590777_95590781delTTACT	ENSP00000437256:p.Lys376fs					DICER1_ENST00000541352.1_Frame_Shift_Del_p.KVI376fs|DICER1_ENST00000343455.3_Frame_Shift_Del_p.KVI376fs|DICER1_ENST00000527414.1_Frame_Shift_Del_p.KVI376fs|DICER1_ENST00000393063.1_Frame_Shift_Del_p.KVI376fs	p.KVI376fs			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	10	1419_1423	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	376			Required for interaction with PRKRA and TARBP2.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Frame_Shift_Del	DEL	ENST00000526495.1	37	c.1128_1132delAGTAA	CCDS9931.1																																																																																				0.351	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			43	118						43	118	---	---	---	---	-	95590781	TTACT	-	95590777	7	5	210	1	0	1	0	1	0	0	0	0	4521	1493	52	0	4716	0	DICER1	14	95590777	Frame_Shift_Del	DEL	TTACT	TCGA-EL-A3GO-01A-11D-A202-08	33138	95590777	11758763	13	4406											
STAC2	342667	broad.mit.edu	37	chr17	37371255	37371255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatgctgccttccccatcctCggtcagctcatcccgctcac	7	19	3	0	rs370925083		TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr17:37371255C>T	ENST00000333461.5	-	6	1090	c.721G>A	c.(721-723)Gag>Aag	p.E241K		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	241					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						TCCCCATCCTCGGTCAGCTCA	0.632																																						ENST00000333461.5																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						c.(721-723)Gag>Aag		SH3 and cysteine rich domain 2			LYS/GLU	0,4406		0,0,2203	185	166	172		721	4.9	0.9	17		172	1,8599	1.2+/-3.3	0,1,4299	no	missense	STAC2	NM_198993.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	241/412	37371255	1,13005	2203	4300	6503	SO:0001583	missense	342667				intracellular signal transduction		metal ion binding	g.chr17:37371255C>T	AJ608762	CCDS11335.1	17q21.2	2012-11-19			ENSG00000141750	ENSG00000141750			23990	protein-coding gene	gene with protein product							Standard	NM_198993		Approved	24b2	uc002hrs.3	Q6ZMT1	OTTHUMG00000179039	ENST00000333461.5:c.721G>A	17.37:g.37371255C>T	ENSP00000327509:p.Glu241Lys						p.E241K	NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN			6	1090	-			241					Q32MA3	Missense_Mutation	SNP	ENST00000333461.5	37	c.721G>A	CCDS11335.1	.	.	.	.	.	.	.	.	.	.	c	19.02	3.746675	0.69418	0.0	1.16E-4	ENSG00000141750	ENST00000333461	T	0.80909	-1.43	4.89	4.89	0.63831	.	0.236511	0.36374	N	0.002629	T	0.78349	0.4269	L	0.59436	1.845	0.33714	D	0.616181	B	0.14438	0.01	B	0.10450	0.005	T	0.81479	-0.0914	10	0.54805	T	0.06	-10.6034	15.901	0.79377	0.0:1.0:0.0:0.0	.	241	Q6ZMT1	STAC2_HUMAN	K	241	ENSP00000327509:E241K	ENSP00000327509:E241K	E	-	1	0	STAC2	34624781	0.994000	0.37717	0.946000	0.38457	0.985000	0.73830	4.225000	0.58600	2.429000	0.82318	0.506000	0.49869	GAG		0.632	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444533.2	NM_198993		87	154	0	0	0	0.048971	0	87	154					T	37371255	C	T	37371255	3	4	210	1	0	0	0	0	1	0	0	0	15239	893	31	1	538	1	STAC2	17	37371255	Missense_Mutation	SNP	C	TCGA-EL-A3GO-01A-11D-A202-08		37371255	43823955	14	4407											
HEATR6	63897	broad.mit.edu	37	chr17	58143675	58143675	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaccagtagccataaagaacTtttttttctatcgattttat	5	7	1	1			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr17:58143675T>A	ENST00000184956.6	-	9	1327	c.1311A>T	c.(1309-1311)aaA>aaT	p.K437N	HEATR6_ENST00000585976.1_Missense_Mutation_p.K437N	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	437							poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			CATAAAGAACTTTTTTTTCTA	0.383																																						ENST00000184956.6																			0				NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(1309-1311)aaA>aaT		HEAT repeat containing 6							46	54	51					17																	58143675		2201	4300	6501	SO:0001583	missense	63897						binding	g.chr17:58143675T>A	BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"amplified in breast cancer 1"					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.1311A>T	17.37:g.58143675T>A	ENSP00000184956:p.Lys437Asn					HEATR6_ENST00000585976.1_Missense_Mutation_p.K437N	p.K437N	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		9	1327	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		437					B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	ENST00000184956.6	37	c.1311A>T	CCDS11623.1	.	.	.	.	.	.	.	.	.	.	T	16.83	3.231215	0.58777	.	.	ENSG00000068097	ENST00000184956;ENST00000393017	T	0.47528	0.84	5.8	4.73	0.59995	Armadillo-type fold (1);	0.130840	0.64402	D	0.000001	T	0.50769	0.1635	L	0.54323	1.7	0.30914	N	0.728794	P;P	0.51147	0.942;0.901	P;P	0.51079	0.658;0.506	T	0.59621	-0.7420	10	0.72032	D	0.01	-12.3257	8.428	0.32739	0.0:0.1484:0.0:0.8516	.	284;437	E7ESB9;Q6AI08	.;HEAT6_HUMAN	N	437;284	ENSP00000184956:K437N	ENSP00000184956:K437N	K	-	3	2	HEATR6	55498457	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.679000	0.25291	1.160000	0.42584	0.524000	0.50904	AAA		0.383	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070		16	40	0	0	0	0.024245	0	16	40					A	58143675	T	A	58143675	3	1	210	1	0	0	0	0	1	0	0	0	7033	1606	56	5	2282	5	HEATR6	17	58143675	Missense_Mutation	SNP	T	TCGA-EL-A3GO-01A-11D-A202-08	20772420	58143675	23051535	15	4408											
ARHGEF6	9459	broad.mit.edu	37	chrX	135767911	135767911	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttttaatatcttctccttcCcatgcctgaataggttcgga	6	10	2	1			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chrX:135767911C>A	ENST00000250617.6	-	12	2522	c.1317G>T	c.(1315-1317)tgG>tgT	p.W439C	ARHGEF6_ENST00000370622.1_Missense_Mutation_p.W285C|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.W285C|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.W312C	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	439					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					CTTCTCCTTCCCATGCCTGAA	0.393																																						ENST00000250617.6																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38						c.(1315-1317)tgG>tgT		Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6							161	130	140					X																	135767911		2203	4300	6503	SO:0001583	missense	9459				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chrX:135767911C>A	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	685	protein-coding gene	gene with protein product	"Rac/Cdc42 guanine exchange factor (GEF) 6", "PAK-interacting exchange factor, alpha", "rho guanine nucleotide exchange factor 6"	300267	"mental retardation, X-linked 46"	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.1317G>T	X.37:g.135767911C>A	ENSP00000250617:p.Trp439Cys					ARHGEF6_ENST00000370620.1_Missense_Mutation_p.W285C|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.W285C|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.W312C	p.W439C	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN			12	2522	-	Acute lymphoblastic leukemia(192;0.000127)		439					A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	ENST00000250617.6	37	c.1317G>T	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	c	14.74	2.625696	0.46840	.	.	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.36	5.36	0.76844	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.74921	0.3780	M	0.88310	2.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.80850	-0.1198	10	0.87932	D	0	.	18.1967	0.89825	0.0:1.0:0.0:0.0	.	312;439	B7Z3C7;Q15052	.;ARHG6_HUMAN	C	439;285;285;285;312	ENSP00000250617:W439C;ENSP00000359654:W285C;ENSP00000359656:W285C;ENSP00000439483:W312C	ENSP00000250617:W439C	W	-	3	0	ARHGEF6	135595577	1.000000	0.71417	1.000000	0.80357	0.055000	0.15305	7.815000	0.86186	2.235000	0.73313	0.519000	0.50382	TGG		0.393	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840		13	121	1	0	2.27111e-07	0.09319	5.29926e-07	13	121					A	135767911	C	A	135767911	3	1	210	1	0	0	0	0	1	0	0	0	910	624	22	4	1057	4	ARHGEF6	23	135767911	Missense_Mutation	SNP	C	TCGA-EL-A3GO-01A-11D-A202-08		135767911	19502649	16	4409											
FAAH	2166	broad.mit.edu	37	chr1	46877297	46877298	+	Frame_Shift_Del	DEL	CT	CT	-													tgcccagttcggctggaaaaCtctgggaactgcagcacgag							TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr1:46877297_46877298delCT	ENST00000243167.8	+	12	1414_1415	c.1330_1331delCT	c.(1330-1332)ctcfs	p.L444fs		NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	444					fatty acid catabolic process (GO:0009062)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)	acylglycerol lipase activity (GO:0047372)|carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|fatty acid amide hydrolase activity (GO:0017064)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	GGCTGGAAAACTCTGGGAACTG	0.594																																						ENST00000243167.8																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22						c.(1330-1332)cfs		fatty acid amide hydrolase	Propofol(DB00818)|Thiopental(DB00599)																																			SO:0001589	frameshift_variant	2166				fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity	g.chr1:46877297_46877298delCT	U82535	CCDS535.1	1p35-p34	2008-02-05			ENSG00000117480	ENSG00000117480			3553	protein-coding gene	gene with protein product		602935				9122178	Standard	NM_001441		Approved	FAAH-1	uc001cpu.2	O00519	OTTHUMG00000007811	ENST00000243167.8:c.1330_1331delCT	1.37:g.46877299_46877300delCT	ENSP00000243167:p.Leu444fs						p.L444fs	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN			12	1414_1415	+	Acute lymphoblastic leukemia(166;0.155)		444					D3DQ19|Q52M86|Q5TDF8	Frame_Shift_Del	DEL	ENST00000243167.8	37	c.1330_1331delCT	CCDS535.1																																																																																				0.594	FAAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021443.1	NM_001441		16	33						16	33	---	---	---	---	-	46877298	CT	-	46877297	7	5	211	1	0	1	0	1	0	0	0	0	5353	565	20	0	1376	0	FAAH	1	46877297	Frame_Shift_Del	DEL	CT	TCGA-EL-A3GP-01A-11D-A202-08		46877297	202373324	1	4410											
OR2T27	403239	broad.mit.edu	37	chr1	248813367	248813367	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atggtgtagaaggcagatacAgctttgtcctgctcaggggt	14	7	1	2			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr1:248813367A>T	ENST00000344889.3	-	1	818	c.819T>A	c.(817-819)gcT>gcA	p.A273A		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGCAGATACAGCTTTGTCCT	0.522																																						ENST00000344889.3																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32						c.(817-819)gcT>gcA		olfactory receptor, family 2, subfamily T, member 27							72	65	67					1																	248813367		2180	4275	6455	SO:0001819	synonymous_variant	403239				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248813367A>T		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"GPCR / Class A : Olfactory receptors"	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.819T>A	1.37:g.248813367A>T							p.A273A	NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	818	-	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	273						Silent	SNP	ENST00000344889.3	37	c.819T>A	CCDS31124.1																																																																																				0.522	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		38	33	0	0	0	0.005524	0	38	33					T	248813367	A	T	248813367	2	4	211	1	0	0	0	0	0	0	0	1	11021	175	7	5		5	OR2T27	1	248813367	Silent	SNP	A	TCGA-EL-A3GP-01A-11D-A202-08	201936070	248813367	437254	2	4411											
NLRC4	58484	broad.mit.edu	37	chr2	32477651	32477651	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atgtttacttcttcgcgattCagaacattccatacaaatag	5	9	2	1			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr2:32477651C>G	ENST00000404025.2	-	4	587	c.99G>C	c.(97-99)ctG>ctC	p.L33L	NLRC4_ENST00000342905.6_Silent_p.L33L|NLRC4_ENST00000360906.5_Silent_p.L33L|NLRC4_ENST00000402280.1_Silent_p.L33L			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	33	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				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)					CTTCGCGATTCAGAACATTCC	0.403																																						ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(97-99)ctG>ctC		NLR family, CARD domain containing 4							159	145	149					2																	32477651		2203	4300	6503	SO:0001819	synonymous_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.chr2:32477651C>G	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.99G>C	2.37:g.32477651C>G						NLRC4_ENST00000402280.1_Silent_p.L33L|NLRC4_ENST00000342905.6_Silent_p.L33L|NLRC4_ENST00000360906.5_Silent_p.L33L	p.L33L			Q9NPP4	NLRC4_HUMAN			4	587	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		33			CARD.		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Silent	SNP	ENST00000404025.2	37	c.99G>C	CCDS33174.1																																																																																				0.403	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		3	166	0	0	0	0.000248	0	3	166					G	32477651	C	G	32477651	2	3	211	1	0	0	0	0	0	0	0	1	10469	813	29	4		4	NLRC4	2	32477651	Silent	SNP	C	TCGA-EL-A3GP-01A-11D-A202-08		32477651	210721722	3	4412											
RAB3GAP1	22930	broad.mit.edu	37	chr2	135888244	135888244	+	Frame_Shift_Del	DEL	G	G	-													aaatccgaaaacacagaggtGtagaggagtcaccgctaaat							TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr2:135888244delG	ENST00000264158.8	+	13	1232	c.1189delG	c.(1189-1191)gtafs	p.V397fs	RAB3GAP1_ENST00000442034.1_Frame_Shift_Del_p.V397fs|RAB3GAP1_ENST00000539493.1_Frame_Shift_Del_p.V353fs|RAB3GAP1_ENST00000487003.1_3'UTR	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	397					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		ACACAGAGGTGTAGAGGAGTC	0.338																																						ENST00000264158.8																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32						c.(1189-1191)tafs		RAB3 GTPase activating protein subunit 1 (catalytic)							75	78	77					2																	135888244		2203	4300	6503	SO:0001589	frameshift_variant	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135888244delG	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.1189delG	2.37:g.135888244delG	ENSP00000264158:p.Val397fs					RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Frame_Shift_Del_p.V397fs|RAB3GAP1_ENST00000539493.1_Frame_Shift_Del_p.V353fs	p.V397fs	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	13	1232	+			397					A6H8Z3|C9J837|Q659F5|Q8TBB4	Frame_Shift_Del	DEL	ENST00000264158.8	37	c.1189delG	CCDS33294.1																																																																																				0.338	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233		20	57						20	57	---	---	---	---	-	135888244	G	-	135888244	7	5	211	1	0	1	0	1	0	0	0	0	12935	1377	48	0	1239	0	RAB3GAP1	2	135888244	Frame_Shift_Del	DEL	G	TCGA-EL-A3GP-01A-11D-A202-08	103410593	135888244	107311129	4	4413											
STAT1	6772	broad.mit.edu	37	chr2	191862642	191862642	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	caatacaggcgctctgctgtCtccgcttccactccactagt	7	16	2	0			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr2:191862642C>G	ENST00000361099.3	-	9	1112	c.725G>C	c.(724-726)aGa>aCa	p.R242T	STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Missense_Mutation_p.R242T|STAT1_ENST00000392323.2_Missense_Mutation_p.R244T|STAT1_ENST00000392322.3_Missense_Mutation_p.R242T	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	242					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			GCTCTGCTGTCTCCGCTTCCA	0.483																																						ENST00000361099.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(724-726)aGa>aCa		signal transducer and activator of transcription 1, 91kDa	Fludarabine(DB01073)						79	75	77					2																	191862642		2203	4300	6503	SO:0001583	missense	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191862642C>G		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"SH2 domain containing"	11362	protein-coding gene	gene with protein product	"transcription factor ISGF-3 components p91/p84"	600555	"signal transducer and activator of transcription 1, 91kD"			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.725G>C	2.37:g.191862642C>G	ENSP00000354394:p.Arg242Thr					STAT1_ENST00000409465.1_Missense_Mutation_p.R242T|STAT1_ENST00000392323.2_Missense_Mutation_p.R244T|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392322.3_Missense_Mutation_p.R242T	p.R242T	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		9	1112	-			242					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	c.725G>C	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068218	0.76301	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323;ENST00000544783	T;T;T;T	0.62498	0.02;0.02;0.02;0.02	5.28	5.28	0.74379	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.000000	0.85682	D	0.000000	D	0.82522	0.5055	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.99;0.991	D	0.85041	0.0923	10	0.72032	D	0.01	-27.766	19.1174	0.93346	0.0:1.0:0.0:0.0	.	242;242	P42224-2;P42224	.;STAT1_HUMAN	T	242;242;242;244;150	ENSP00000354394:R242T;ENSP00000386244:R242T;ENSP00000376136:R242T;ENSP00000376137:R244T	ENSP00000354394:R242T	R	-	2	0	STAT1	191570887	0.981000	0.34729	0.156000	0.22583	0.434000	0.31775	7.651000	0.83577	2.746000	0.94184	0.655000	0.94253	AGA		0.483	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		3	64	0	0	0	0.004672	0	3	64					G	191862642	C	G	191862642	3	3	211	1	0	0	0	0	1	0	0	0	15263	913	32	4	1599	4	STAT1	2	191862642	Missense_Mutation	SNP	C	TCGA-EL-A3GP-01A-11D-A202-08	55974398	191862642	51336731	5	4414											
UBP1	7342	broad.mit.edu	37	chr3	33451063	33451063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttcacctccgtgcttccGtggagtaaattctgtgctga	9	11	2	1			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr3:33451063G>A	ENST00000283629.3	-	6	1115	c.586C>T	c.(586-588)Cgg>Tgg	p.R196W	UBP1_ENST00000283628.5_Missense_Mutation_p.R196W|UBP1_ENST00000486388.1_5'Flank|UBP1_ENST00000447368.2_Missense_Mutation_p.R196W	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	196					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						CCGTGCTTCCGTGGAGTAAAT	0.418																																						ENST00000283629.3																			0				breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						c.(586-588)Cgg>Tgg		upstream binding protein 1 (LBP-1a)							110	106	107					3																	33451063		2203	4300	6503	SO:0001583	missense	7342				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr3:33451063G>A	AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.586C>T	3.37:g.33451063G>A	ENSP00000283629:p.Arg196Trp					UBP1_ENST00000447368.2_Missense_Mutation_p.R196W|UBP1_ENST00000283628.5_Missense_Mutation_p.R196W	p.R196W	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN			6	1115	-			196					Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Missense_Mutation	SNP	ENST00000283629.3	37	c.586C>T	CCDS2659.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.040841	0.55003	.	.	ENSG00000153560	ENST00000283629;ENST00000447368;ENST00000283628	T;T;T	0.18810	2.19;2.19;2.19	6.17	5.3	0.74995	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.40322	0.1112	M	0.85710	2.77	0.80722	D	1	B;P	0.43542	0.333;0.81	B;P	0.46299	0.061;0.511	T	0.49661	-0.8916	10	0.87932	D	0	-12.0005	17.0755	0.86585	0.0:0.0:0.872:0.1279	.	196;196	Q9NZI7-4;Q9NZI7	.;UBIP1_HUMAN	W	196	ENSP00000283629:R196W;ENSP00000395558:R196W;ENSP00000283628:R196W	ENSP00000283628:R196W	R	-	1	2	UBP1	33426067	0.999000	0.42202	0.997000	0.53966	0.992000	0.81027	2.631000	0.46502	1.609000	0.50190	0.655000	0.94253	CGG		0.418	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	NM_014517		22	86	0	0	0	0.00278	0	22	86					A	33451063	G	A	33451063	3	1	211	1	0	0	0	0	1	0	0	0	16892	1144	40	1	1080	1	UBP1	3	33451063	Missense_Mutation	SNP	G	TCGA-EL-A3GP-01A-11D-A202-08		33451063	164571367	6	4415											
DOCK3	1795	broad.mit.edu	37	chr3	51399384	51399384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatggtgatgctgggtgacGgctccatgggtgatgctcct	15	9	0	3			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr3:51399384G>A	ENST00000266037.9	+	48	5124	c.5101G>A	c.(5101-5103)Ggc>Agc	p.G1701S		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1701					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCTGGGTGACGGCTCCATGGG	0.567																																						ENST00000266037.9																			0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(5101-5103)Ggc>Agc		dedicator of cytokinesis 3							88	92	90					3																	51399384		2151	4256	6407	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51399384G>A	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5101G>A	3.37:g.51399384G>A	ENSP00000266037:p.Gly1701Ser						p.G1701S	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	48	5124	+			1701					O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.5101G>A	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	1.698	-0.502187	0.04261	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.04317	3.65	5.31	-0.0328	0.13903	.	0.409694	0.31847	N	0.006972	T	0.01800	0.0057	N	0.04018	-0.295	0.23089	N	0.998315	B	0.06786	0.001	B	0.04013	0.001	T	0.48647	-0.9017	10	0.02654	T	1	.	9.775	0.40614	0.6426:0.0:0.3574:0.0	.	1701	Q8IZD9	DOCK3_HUMAN	S	1701;497	ENSP00000266037:G1701S	ENSP00000266037:G1701S	G	+	1	0	DOCK3	51374424	1.000000	0.71417	0.925000	0.36789	0.419000	0.31324	2.190000	0.42630	0.107000	0.17824	-0.302000	0.09304	GGC		0.567	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		6	13	0	0	0	0.001168	0	6	13					A	51399384	G	A	51399384	3	1	211	1	0	0	0	0	1	0	0	0	4688	1116	39	1	5291	1	DOCK3	3	51399384	Missense_Mutation	SNP	G	TCGA-EL-A3GP-01A-11D-A202-08	17948321	51399384	146623046	7	4416											
CCDC54	84692	broad.mit.edu	37	chr3	107097052	107097052	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttatccaaagtccactgaCcatcttgagaaaaaaacaat	5	9	1	2			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr3:107097052C>T	ENST00000261058.1	+	1	865	c.618C>T	c.(616-618)gaC>gaT	p.D206D		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	206										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						AGTCCACTGACCATCTTGAGA	0.393																																						ENST00000261058.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						c.(616-618)gaC>gaT		coiled-coil domain containing 54							73	73	73					3																	107097052		2203	4300	6503	SO:0001819	synonymous_variant	84692							g.chr3:107097052C>T	AF367469	CCDS2949.1	3q13.12	2013-10-11			ENSG00000138483	ENSG00000138483			30703	protein-coding gene	gene with protein product	"sperm protein 17"					15257753	Standard	NM_032600		Approved	NYD-SP17, FLJ25362, SP17	uc003dwi.1	Q8NEL0	OTTHUMG00000159169	ENST00000261058.1:c.618C>T	3.37:g.107097052C>T							p.D206D	NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN			1	865	+			206					Q96A43	Silent	SNP	ENST00000261058.1	37	c.618C>T	CCDS2949.1																																																																																				0.393	CCDC54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353651.1	NM_032600		34	81	0	0	0	0.003271	0	34	81					T	107097052	C	T	107097052	2	4	211	1	0	0	0	0	0	0	0	1	2824	506	18	2		2	CCDC54	3	107097052	Silent	SNP	C	TCGA-EL-A3GP-01A-11D-A202-08	55697668	107097052	90925378	8	4417											
ALDH1L1	10840	broad.mit.edu	37	chr3	125850235	125850235	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgggccccacctggatctTgtcacaccagccagcaaagt	9	16	2	0			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr3:125850235T>C	ENST00000393434.2	-	13	1964	c.1615A>G	c.(1615-1617)Aag>Gag	p.K539E	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.K539E|ALDH1L1_ENST00000393431.2_Intron|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.K438E|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.K549E	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	539	Aldehyde dehydrogenase.				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)	ACCTGGATCTTGTCACACCAG	0.607																																						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.(1615-1617)Aag>Gag		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						141	136	138					3																	125850235		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.chr3:125850235T>C	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.1615A>G	3.37:g.125850235T>C	ENSP00000377083:p.Lys539Glu					ALDH1L1_ENST00000452905.2_Missense_Mutation_p.K438E|ALDH1L1_ENST00000393431.2_Intron|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.K539E|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.K549E	p.K539E	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	13	1964	-			539			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	c.1615A>G	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	T	18.98	3.738676	0.69304	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	4.05	4.05	0.47172	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.86138	0.5861	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87440	0.2394	10	0.87932	D	0	.	11.2444	0.48987	0.0:0.0:0.0:1.0	.	438;539	E9PBX3;O75891	.;AL1L1_HUMAN	E	549;539;438;539	ENSP00000273450:K549E;ENSP00000420293:K539E;ENSP00000395881:K438E;ENSP00000377083:K539E	ENSP00000273450:K549E	K	-	1	0	ALDH1L1	127332925	1.000000	0.71417	1.000000	0.80357	0.533000	0.34776	7.277000	0.78572	1.815000	0.52974	0.383000	0.25322	AAG		0.607	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		86	224	0	0	0	0.00361	0	86	224					C	125850235	T	C	125850235	3	2	211	1	0	0	0	0	1	0	0	0	494	1821	63	3	1137	3	ALDH1L1	3	125850235	Missense_Mutation	SNP	T	TCGA-EL-A3GP-01A-11D-A202-08	18753183	125850235	72172195	9	4418											
AGGF1	55109	broad.mit.edu	37	chr5	76331518	76331518	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttaccctggtaccgatagaAcagaaaatgttaaatataga	7	7	0	3			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr5:76331518A>G	ENST00000312916.7	+	3	848	c.466A>G	c.(466-468)Aca>Gca	p.T156A	AGGF1_ENST00000506806.1_Missense_Mutation_p.T156A|AGGF1_ENST00000503538.1_3'UTR	NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	156					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		TACCGATAGAACAGAAAATGT	0.353																																						ENST00000312916.7																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20						c.(466-468)Aca>Gca		angiogenic factor with G patch and FHA domains 1							92	92	92					5																	76331518		2203	4300	6503	SO:0001583	missense	55109				angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding	g.chr5:76331518A>G	AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"G patch domain containing"	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.466A>G	5.37:g.76331518A>G	ENSP00000316109:p.Thr156Ala					AGGF1_ENST00000506806.1_Missense_Mutation_p.T156A|AGGF1_ENST00000503538.1_3'UTR	p.T156A	NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)	3	848	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	156					O00581|Q53YS3|Q9BU84|Q9NW66	Missense_Mutation	SNP	ENST00000312916.7	37	c.466A>G	CCDS4035.1	.	.	.	.	.	.	.	.	.	.	A	8.141	0.785192	0.16189	.	.	ENSG00000164252	ENST00000312916;ENST00000506806	T;T	0.78816	1.2;-1.21	5.75	3.23	0.37069	.	0.797682	0.12034	N	0.505702	T	0.63402	0.2508	L	0.29908	0.895	0.09310	N	1	B;B	0.17268	0.005;0.021	B;B	0.23419	0.006;0.046	T	0.47169	-0.9138	10	0.12430	T	0.62	-4.8762	6.8657	0.24093	0.7952:0.0:0.0717:0.1331	.	156;156	Q8N302;Q8N302-3	AGGF1_HUMAN;.	A	156	ENSP00000316109:T156A;ENSP00000424733:T156A	ENSP00000316109:T156A	T	+	1	0	AGGF1	76367274	0.000000	0.05858	0.009000	0.14445	0.247000	0.25773	1.015000	0.29963	0.385000	0.24970	0.528000	0.53228	ACA		0.353	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219971.2	NM_018046		18	70	0	0	0	0.006122	0	18	70					G	76331518	A	G	76331518	3	3	211	1	0	0	0	0	1	0	0	0	382	43	2	3	476	3	AGGF1	5	76331518	Missense_Mutation	SNP	A	TCGA-EL-A3GP-01A-11D-A202-08		76331518	104583742	10	4419											
MSH3	4437	broad.mit.edu	37	chr5	79950762	79950762	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccagctcccgccttcccGccccagctgccgccgcacat	7	25	0	0			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr5:79950762G>A	ENST00000265081.6	+	1	296	c.216G>A	c.(214-216)ccG>ccA	p.P72P	DHFR_ENST00000511032.1_5'Flank|DHFR_ENST00000439211.2_5'UTR|DHFR_ENST00000504396.1_5'Flank|DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000505337.1_5'Flank	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	72					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CCGCCTTCCCGCCCCAGCTGC	0.761								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	ENST00000265081.6																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(214-216)ccG>ccA	Mismatch excision repair (MMR)	mutS homolog 3							3	3	3					5																	79950762		1506	3116	4622	SO:0001819	synonymous_variant	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:79950762G>A	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.216G>A	5.37:g.79950762G>A						DHFR_ENST00000439211.2_5'UTR	p.P72P	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	1	296	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	72					A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Silent	SNP	ENST00000265081.6	37	c.216G>A	CCDS34195.1																																																																																				0.761	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		4	9	0	0	0	0.000248	0	4	9					A	79950762	G	A	79950762	2	1	211	1	0	0	0	0	0	0	0	1	9871	1074	38	1		1	MSH3	5	79950762	Silent	SNP	G	TCGA-EL-A3GP-01A-11D-A202-08	3619244	79950762	100964498	11	4420											
PCDHA3	56145	broad.mit.edu	37	chr5	140181378	140181378	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggactcgtgttgaaaaaaaAtttaaatcgagaggacactc	9	6	0	2			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr5:140181378A>G	ENST00000522353.2	+	1	596	c.596A>G	c.(595-597)aAt>aGt	p.N199S	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.N199S|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	199	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)			TTGAAAAAAAATTTAAATCGA	0.368																																						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.(595-597)aAt>aGt									58	60	60					5																	140181378		2203	4300	6503	SO:0001583	missense	0							g.chr5:140181378A>G	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.596A>G	5.37:g.140181378A>G	ENSP00000429808:p.Asn199Ser					PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.N199S	p.N199S	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	596	+								O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.596A>G	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	a	0.001	-3.014999	0.00042	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.50813	0.73;0.73	4.86	-1.92	0.07618	Cadherin (4);Cadherin-like (1);	1.577750	0.04326	U	0.351602	T	0.12475	0.0303	N	0.00237	-1.79	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.26503	-1.0101	10	0.07990	T	0.79	.	6.2978	0.21095	0.1653:0.5433:0.0:0.2914	.	199;199	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	S	199	ENSP00000429808:N199S;ENSP00000434086:N199S	ENSP00000429808:N199S	N	+	2	0	PCDHA3	140161562	0.000000	0.05858	0.028000	0.17463	0.016000	0.09150	-1.491000	0.02302	-0.250000	0.09555	-0.691000	0.03719	AAT		0.368	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		3	107	0	0	0	0.004672	0	3	107					G	140181378	A	G	140181378	3	3	211	1	0	0	0	0	1	0	0	0	11525	101	4	3	598	3	PCDHA3	5	140181378	Missense_Mutation	SNP	A	TCGA-EL-A3GP-01A-11D-A202-08	60230616	140181378	40733882	12	4421											
SYNE1	23345	broad.mit.edu	37	chr6	152765610	152765610	+	Missense_Mutation	SNP	T	T	C													tatccaagatcttctcagctTgttcctggacttctttagag							TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr6:152765610T>C	ENST00000367255.5	-	30	4374	c.3773A>G	c.(3772-3774)cAa>cGa	p.Q1258R	SYNE1_ENST00000265368.4_Missense_Mutation_p.Q1258R|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q1265R|SYNE1_ENST00000367253.4_Missense_Mutation_p.Q1258R|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q1265R|SYNE1_ENST00000413186.2_Missense_Mutation_p.Q1258R|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q1324R|SYNE1_ENST00000367248.3_Missense_Mutation_p.Q1248R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1258					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTCTCAGCTTGTTCCTGGAC	0.368										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(3772-3774)cAa>cGa		spectrin repeat containing, nuclear envelope 1							122	120	121					6																	152765610		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152765610T>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3773A>G	6.37:g.152765610T>C	ENSP00000356224:p.Gln1258Arg	HNSCC(10;0.0054)				SYNE1_ENST00000265368.4_Missense_Mutation_p.Q1258R|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q1265R|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q1265R|SYNE1_ENST00000413186.2_Missense_Mutation_p.Q1258R|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q1324R|SYNE1_ENST00000367253.4_Missense_Mutation_p.Q1258R|SYNE1_ENST00000367248.3_Missense_Mutation_p.Q1248R	p.Q1258R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	30	4374	-		Ovarian(120;0.0955)	1258					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.3773A>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	17.66	3.444066	0.63067	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;D;D;D	0.88975	0.45;0.45;0.36;0.45;0.52;-2.32;-2.44;-2.45	5.96	5.96	0.96718	.	0.570212	0.16882	N	0.195670	T	0.78457	0.4286	L	0.47716	1.5	0.80722	D	1	B;B;B;P;B;B	0.36282	0.22;0.006;0.004;0.546;0.006;0.01	B;B;B;B;B;B	0.32980	0.054;0.005;0.016;0.156;0.005;0.011	T	0.77384	-0.2608	10	0.16896	T	0.51	.	16.4277	0.83824	0.0:0.0:0.0:1.0	.	1241;1258;1248;1258;1258;1265	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	R	1258;1265;1258;1265;1324;1258;1248;1258	ENSP00000356224:Q1258R;ENSP00000396024:Q1265R;ENSP00000265368:Q1258R;ENSP00000390975:Q1265R;ENSP00000341887:Q1324R;ENSP00000356222:Q1258R;ENSP00000356217:Q1248R;ENSP00000414510:Q1258R	ENSP00000265368:Q1258R	Q	-	2	0	SYNE1	152807303	1.000000	0.71417	0.256000	0.24389	0.993000	0.82548	7.474000	0.81024	2.279000	0.76181	0.533000	0.62120	CAA		0.368	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		29	86	0	0	0	0.001786	0	29	86					C	152765610	T	C	152765610	3	2	211	1	0	0	0	0	1	0	0	0	15442	1812	63	3	23161	3	SYNE1	6	152765610	Missense_Mutation	SNP	T	TCGA-EL-A3GP-01A-11D-A202-08		152765610	18349457	13	4422	23	2									
SYNE1	23345	broad.mit.edu	37	chr6	152765611	152765611	+	Missense_Mutation	SNP	G	G	T													atccaagatcttctcagcttGttcctggacttctttagagc							TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr6:152765611G>T	ENST00000367255.5	-	30	4373	c.3772C>A	c.(3772-3774)Caa>Aaa	p.Q1258K	SYNE1_ENST00000265368.4_Missense_Mutation_p.Q1258K|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q1265K|SYNE1_ENST00000367253.4_Missense_Mutation_p.Q1258K|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q1265K|SYNE1_ENST00000413186.2_Missense_Mutation_p.Q1258K|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q1324K|SYNE1_ENST00000367248.3_Missense_Mutation_p.Q1248K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1258					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTCAGCTTGTTCCTGGACT	0.368										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(3772-3774)Caa>Aaa		spectrin repeat containing, nuclear envelope 1							120	118	119					6																	152765611		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152765611G>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3772C>A	6.37:g.152765611G>T	ENSP00000356224:p.Gln1258Lys	HNSCC(10;0.0054)				SYNE1_ENST00000265368.4_Missense_Mutation_p.Q1258K|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q1265K|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q1265K|SYNE1_ENST00000413186.2_Missense_Mutation_p.Q1258K|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q1324K|SYNE1_ENST00000367253.4_Missense_Mutation_p.Q1258K|SYNE1_ENST00000367248.3_Missense_Mutation_p.Q1248K	p.Q1258K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	30	4373	-		Ovarian(120;0.0955)	1258					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.3772C>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339778	0.41398	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;D;D;D	0.88586	0.49;0.5;0.4;0.49;0.56;-2.27;-2.39;-2.4	5.96	-0.386	0.12466	.	0.570212	0.16882	N	0.195670	T	0.74642	0.3743	L	0.47716	1.5	0.58432	D	0.999998	B;B;B;B;B;B	0.28055	0.055;0.031;0.052;0.199;0.031;0.052	B;B;B;B;B;B	0.29862	0.036;0.034;0.108;0.108;0.034;0.075	T	0.69566	-0.5111	10	0.06365	T	0.9	.	20.4109	0.99016	0.0:0.7567:0.1659:0.0775	.	1241;1258;1248;1258;1258;1265	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	K	1258;1265;1258;1265;1324;1258;1248;1258	ENSP00000356224:Q1258K;ENSP00000396024:Q1265K;ENSP00000265368:Q1258K;ENSP00000390975:Q1265K;ENSP00000341887:Q1324K;ENSP00000356222:Q1258K;ENSP00000356217:Q1248K;ENSP00000414510:Q1258K	ENSP00000265368:Q1258K	Q	-	1	0	SYNE1	152807304	0.326000	0.24669	0.015000	0.15790	0.992000	0.81027	0.812000	0.27211	-0.400000	0.07656	0.655000	0.94253	CAA		0.368	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		29	86	1	0	3.57733e-08	0.001786	6.1025e-08	29	86					T	152765611	G	T	152765611	3	4	211	1	0	0	0	0	1	0	0	0	15442	1386	48	4	23162	4	SYNE1	6	152765611	Missense_Mutation	SNP	G	TCGA-EL-A3GP-01A-11D-A202-08	1	152765611	18349456	14	4423	23	2									
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		24	74	0	0	0	0.00632	0	24	74					T	140453136	A	T	140453136	3	4	211	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3GP-01A-11D-A202-08		140453136	18685527	15	4424											
ZNF746	155061	broad.mit.edu	37	chr7	149171562	149171562	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggaggccaaaggtcctttGgaggcggggctcttgaaggg	19	7	1	1			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr7:149171562G>A	ENST00000340622.3	-	7	2128	c.1848C>T	c.(1846-1848)tcC>tcT	p.S616S	ZNF746_ENST00000458143.2_Silent_p.S617S			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	616					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AAGGTCCTTTGGAGGCGGGGC	0.687																																						ENST00000340622.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1846-1848)tcC>tcT		zinc finger protein 746							33	33	33					7																	149171562		2200	4298	6498	SO:0001819	synonymous_variant	155061				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr7:149171562G>A	AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"Zinc fingers, C2H2-type", "-"	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.1848C>T	7.37:g.149171562G>A						ZNF746_ENST00000458143.2_Silent_p.S617S	p.S616S			Q6NUN9	ZN746_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		7	2128	-	Melanoma(164;0.165)		616					A8K6Z9|Q6ZRF9	Silent	SNP	ENST00000340622.3	37	c.1848C>T	CCDS5897.1																																																																																				0.687	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352730.1	NM_152557		13	15	0	0	0	0.004007	0	13	15					A	149171562	G	A	149171562	2	1	211	1	0	0	0	0	0	0	0	1	18126	1335	47	2		2	ZNF746	7	149171562	Silent	SNP	G	TCGA-EL-A3GP-01A-11D-A202-08	8718426	149171562	9967101	16	4425											
PRSS3	5646	broad.mit.edu	37	chr9	33797869	33797869	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcacaacatcaaagtcctGgaggggaatgagcagttcat	12	8	2	1			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr9:33797869G>A	ENST00000361005.5	+	3	414	c.414G>A	c.(412-414)ctG>ctA	p.L138L	PRSS3_ENST00000429677.3_Silent_p.L74L|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000379405.3_Silent_p.L81L|PRSS3_ENST00000342836.4_Silent_p.L95L	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	138	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			TCAAAGTCCTGGAGGGGAATG	0.552																																						ENST00000361005.5																			0				large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13						c.(412-414)ctG>ctA		protease, serine, 3							177	150	159					9																	33797869		2203	4300	6503	SO:0001819	synonymous_variant	5646				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity	g.chr9:33797869G>A		CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"Serine peptidases / Serine peptidases"	9486	protein-coding gene	gene with protein product	"mesotrypsin"	613578	"protease, serine, 4 (trypsin 4, brain)", "protease, serine, 3 (mesotrypsin)"	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.414G>A	9.37:g.33797869G>A						PRSS3_ENST00000342836.4_Silent_p.L95L|PRSS3_ENST00000379405.3_Silent_p.L81L|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000429677.3_Silent_p.L74L	p.L138L	NM_007343.3	NP_031369.2	P35030	TRY3_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0176)		3	414	+			138			Peptidase S1.		A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Silent	SNP	ENST00000361005.5	37	c.414G>A	CCDS47958.1																																																																																				0.552	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771		4	74	0	0	0	0.00308	0	4	74					A	33797869	G	A	33797869	2	1	211	1	0	0	0	0	0	0	0	1	12622	1335	47	2		2	PRSS3	9	33797869	Silent	SNP	G	TCGA-EL-A3GP-01A-11D-A202-08		33797869	107415562	17	4426											
PCDH15	65217	broad.mit.edu	37	chr10	55782771	55782771	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aaccttgatggccaaggttaGagttgaatgacgagggtgta	14	5	0	4			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr10:55782771G>C	ENST00000320301.6	-	19	2801	c.2407C>G	c.(2407-2409)Cta>Gta	p.L803V	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.L803V|PCDH15_ENST00000395430.1_Missense_Mutation_p.L803V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.L732V|PCDH15_ENST00000395445.1_Missense_Mutation_p.L810V|PCDH15_ENST00000414778.1_Missense_Mutation_p.L808V|PCDH15_ENST00000395438.1_Missense_Mutation_p.L803V|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.L803V|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.L781V|PCDH15_ENST00000373965.2_Missense_Mutation_p.L810V|PCDH15_ENST00000395432.2_Missense_Mutation_p.L766V|PCDH15_ENST00000409834.1_Missense_Mutation_p.L414V	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	803	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.L808I(1)|p.L803I(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCCAAGGTTAGAGTTGAATGA	0.443										HNSCC(58;0.16)																												ENST00000373965.2																			2	Substitution - Missense(2)	p.L808I(1)|p.L803I(1)	pancreas(2)	NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(2428-2430)Cta>Gta		protocadherin-related 15							198	177	184					10																	55782771		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55782771G>C	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2407C>G	10.37:g.55782771G>C	ENSP00000322604:p.Leu803Val	HNSCC(58;0.16)				PCDH15_ENST00000437009.1_Missense_Mutation_p.L732V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.L803V|PCDH15_ENST00000414778.1_Missense_Mutation_p.L808V|PCDH15_ENST00000395445.1_Missense_Mutation_p.L810V|PCDH15_ENST00000395433.1_Missense_Mutation_p.L781V|PCDH15_ENST00000395430.1_Missense_Mutation_p.L803V|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.L803V|PCDH15_ENST00000409834.1_Missense_Mutation_p.L414V|PCDH15_ENST00000395432.2_Missense_Mutation_p.L766V|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.L803V|PCDH15_ENST00000320301.6_Missense_Mutation_p.L803V	p.L810V	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			20	2822	-		Melanoma(3;0.117)|Lung SC(717;0.238)	803			Cadherin 7.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.2428C>G	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	1.296	-0.606256	0.03717	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7	5.67	-0.106	0.13596	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.29945	0.0749	N	0.03294	-0.36	0.09310	N	0.999997	P;B;P;B;P;P;P;P;P;D;B;P;B;B	0.54601	0.484;0.09;0.694;0.022;0.479;0.484;0.484;0.935;0.943;0.967;0.418;0.89;0.3;0.09	P;B;P;B;B;P;P;P;P;P;B;P;B;B	0.58391	0.517;0.148;0.517;0.091;0.26;0.517;0.517;0.734;0.733;0.838;0.206;0.596;0.106;0.189	T	0.14615	-1.0466	9	0.14656	T	0.56	.	2.6737	0.05075	0.1747:0.1024:0.4131:0.3097	.	781;803;803;808;732;766;803;803;810;810;803;808;803;803	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	V	810;808;803;803;414;810;766;803;781;803;803;808;732;803	ENSP00000363076:L810V;ENSP00000410304:L808V;ENSP00000378826:L803V;ENSP00000386693:L414V;ENSP00000378832:L810V;ENSP00000378820:L766V;ENSP00000354950:L803V;ENSP00000378821:L781V;ENSP00000322604:L803V;ENSP00000378818:L803V;ENSP00000412628:L732V;ENSP00000363066:L803V	ENSP00000322604:L803V	L	-	1	2	PCDH15	55452777	0.017000	0.18338	0.287000	0.24848	0.401000	0.30781	0.226000	0.17776	-0.062000	0.13088	-2.724000	0.00131	CTA		0.443	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		28	88	0	0	0	0.005443	0	28	88					C	55782771	G	C	55782771	3	2	211	1	0	0	0	0	1	0	0	0	11511	933	33	4	5139	4	PCDH15	10	55782771	Missense_Mutation	SNP	G	TCGA-EL-A3GP-01A-11D-A202-08		55782771	79751976	18	4427											
ACACB	32	broad.mit.edu	37	chr12	109650693	109650693	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgcagcggaaggctgatcGagaggtcttcttcatcaaca	11	11	4	2			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr12:109650693G>A	ENST00000338432.7	+	22	3421	c.3302G>A	c.(3301-3303)cGa>cAa	p.R1101Q	ACACB_ENST00000377848.3_Missense_Mutation_p.R1101Q|ACACB_ENST00000377854.5_Missense_Mutation_p.R1101Q			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1101					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	AAGGCTGATCGAGAGGTCTTC	0.542																																						ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(3301-3303)cGa>cAa		acetyl-CoA carboxylase beta	Biotin(DB00121)						204	179	187					12																	109650693		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109650693G>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.3302G>A	12.37:g.109650693G>A	ENSP00000341044:p.Arg1101Gln					ACACB_ENST00000377848.3_Missense_Mutation_p.R1101Q|ACACB_ENST00000377854.5_Missense_Mutation_p.R1101Q	p.R1101Q			O00763	ACACB_HUMAN			22	3421	+			1101					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.3302G>A	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.587522	0.86851	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	T;T;T	0.47177	0.85;0.85;0.85	5.48	5.48	0.80851	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.65770	0.2723	L	0.52206	1.635	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64685	-0.6349	10	0.54805	T	0.06	.	19.7462	0.96252	0.0:0.0:1.0:0.0	.	1101	O00763	ACACB_HUMAN	Q	1101;1101;1101;332	ENSP00000341044:R1101Q;ENSP00000367079:R1101Q;ENSP00000367085:R1101Q	ENSP00000341044:R1101Q	R	+	2	0	ACACB	108135076	1.000000	0.71417	0.973000	0.42090	0.927000	0.56198	9.756000	0.98918	2.736000	0.93811	0.655000	0.94253	CGA		0.542	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		50	121	0	0	0	0.00361	0	50	121					A	109650693	G	A	109650693	3	1	211	1	0	0	0	0	1	0	0	0	107	1058	37	1	3384	1	ACACB	12	109650693	Missense_Mutation	SNP	G	TCGA-EL-A3GP-01A-11D-A202-08		109650693	24201202	19	4428											
NOS1	4842	broad.mit.edu	37	chr12	117725989	117725989	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctgagaaggatgcatgatGgagcccatgcagatgtactc	13	8	0	3			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr12:117725989G>T	ENST00000344089.3	-	6	1758	c.1073C>A	c.(1072-1074)cCa>cAa	p.P358Q	NOS1_ENST00000317775.6_Silent_p.S339S|NOS1_ENST00000338101.4_Silent_p.S339S	NM_001204213.1|NM_001204214.1	NP_001191142.1|NP_001191143.1	Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GATGCATGATGGAGCCCATGC	0.483																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000344089.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(1072-1074)cCa>cAa		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						115	112	113					12																	117725989		1960	4164	6124	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117725989G>T		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000344089.3:c.1073C>A	12.37:g.117725989G>T	ENSP00000339862:p.Pro358Gln					NOS1_ENST00000338101.4_Silent_p.S339S|NOS1_ENST00000317775.6_Silent_p.S339S	p.P358Q	NM_001204213.1|NM_001204214.1	NP_001191142.1|NP_001191143.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	6	1758	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		0						Missense_Mutation	SNP	ENST00000344089.3	37	c.1073C>A		.	.	.	.	.	.	.	.	.	.	G	14.71	2.617219	0.46736	.	.	ENSG00000089250	ENST00000344089	T	0.09073	3.02	5.93	3.06	0.35304	.	.	.	.	.	T	0.09555	0.0235	.	.	.	0.25567	N	0.986938	.	.	.	.	.	.	T	0.31861	-0.9928	6	0.87932	D	0	-31.1613	3.2003	0.06647	0.1717:0.2277:0.4837:0.117	.	.	.	.	Q	358	ENSP00000339862:P358Q	ENSP00000339862:P358Q	P	-	2	0	NOS1	116210372	0.008000	0.16893	1.000000	0.80357	0.895000	0.52256	-0.287000	0.08388	0.380000	0.24823	0.563000	0.77884	CCA		0.483	NOS1-201	KNOWN	basic	protein_coding	protein_coding				25	50	1	0	0.000184323	0.007291	0.00030545	25	50					T	117725989	G	T	117725989	3	4	211	1	0	0	0	0	1	0	0	0	10541	1335	47	4	3387	4	NOS1	12	117725989	Missense_Mutation	SNP	G	TCGA-EL-A3GP-01A-11D-A202-08	8075296	117725989	16125906	20	4429											
FAM48A	55578	broad.mit.edu	37	chr13	37583813	37583813	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaagtaatgcaagactcaaAattttggagtggttggcgtg	12	4	1	1			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr13:37583813A>C	ENST00000350612.6	-	26	2556	c.2336T>G	c.(2335-2337)tTt>tGt	p.F779C	SUPT20H_ENST00000464744.1_3'UTR|SUPT20H_ENST00000356185.3_3'UTR|SUPT20H_ENST00000475892.1_3'UTR|SUPT20H_ENST00000360252.4_3'UTR	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	779					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										CAAGACTCAAAATTTTGGAGT	0.378																																						ENST00000350612.6																			0											c.(2335-2337)tTt>tGt		suppressor of Ty 20 homolog (S. cerevisiae)							155	155	155					13																	37583813		2203	4300	6503	SO:0001583	missense	55578							g.chr13:37583813A>C	AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"p38 interacting protein", "transcription factor (p38 interacting protein)"	613417	"chromosome 13 open reading frame 19", "family with sequence similarity 48, member A"	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.2336T>G	13.37:g.37583813A>C	ENSP00000218894:p.Phe779Cys					SUPT20H_ENST00000356185.3_3'UTR|SUPT20H_ENST00000475892.1_3'UTR|SUPT20H_ENST00000464744.1_3'UTR|SUPT20H_ENST00000360252.4_3'UTR	p.F779C	NM_001014286.2	NP_001014308.2					26	2556	-								E7ER46|Q71RF3|Q9Y6A6	Missense_Mutation	SNP	ENST00000350612.6	37	c.2336T>G	CCDS31959.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.602|9.602	1.128980|1.128980	0.21041|0.21041	.|.	.|.	ENSG00000102710|ENSG00000102710	ENST00000350612|ENST00000469488	T|.	0.36520|.	1.25|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.117949|0.117949	0.38837|0.38837	N|N	0.001554|0.001554	T|T	0.60715|0.60715	0.2290|0.2290	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	P|.	0.39576|.	0.679|.	B|.	0.40702|.	0.338|.	T|T	0.64449|0.64449	-0.6405|-0.6405	10|7	0.87932|0.87932	D|D	0|0	.|.	9.5838|9.5838	0.39504|0.39504	0.9159:0.0:0.0841:0.0|0.9159:0.0:0.0841:0.0	.|.	779|.	Q8NEM7|.	FA48A_HUMAN|.	C|V	779|322	ENSP00000218894:F779C|.	ENSP00000218894:F779C|ENSP00000419787:F322V	F|F	-|-	2|1	0|0	FAM48A|FAM48A	36481813|36481813	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.657000|0.657000	0.38888|0.38888	1.846000|1.846000	0.39289|0.39289	2.267000|2.267000	0.75376|0.75376	0.383000|0.383000	0.25322|0.25322	TTT|TTT		0.378	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569		58	111	0	0	0	0.00361	0	58	111					C	37583813	A	C	37583813	3	2	211	1	0	0	0	0	1	0	0	0	5572	14	1	5	7	5	FAM48A	13	37583813	Missense_Mutation	SNP	A	TCGA-EL-A3GP-01A-11D-A202-08		37583813	77586065	21	4430											
USP6	9098	broad.mit.edu	37	chr17	5076150	5076150	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctgcctacattcttttctaTgagcagcaggggatagacta	9	9	3	2			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr17:5076150T>A	ENST00000574788.1	+	38	6328	c.4098T>A	c.(4096-4098)taT>taA	p.Y1366*	USP6_ENST00000332776.4_3'UTR|USP6_ENST00000250066.6_Nonsense_Mutation_p.Y1366*|USP6_ENST00000304328.5_Nonsense_Mutation_p.Y1049*			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	1366	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TTCTTTTCTATGAGCAGCAGG	0.428			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts																																	ENST00000574788.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"COL1A1, CDH11, ZNF9, OMD"		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(4096-4098)taT>taA		ubiquitin specific peptidase 6 (Tre-2 oncogene)							140	129	133					17																	5076150		2203	4297	6500	SO:0001587	stop_gained	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5076150T>A	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"Ubiquitin-specific peptidases"	12629	protein-coding gene	gene with protein product	"ubiquitin carboxyl-terminal hydrolase 6", "TBC1D3 and USP32 fusion", "Tre-2 oncogene"	604334	"ubiquitin specific protease 6 (Tre-2 oncogene)", "TRE oncogene, Smith Magenis syndrome chromosome region", "ubiquitin specific peptidase 6 (Tre-2 oncogene)"	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.4098T>A	17.37:g.5076150T>A	ENSP00000460380:p.Tyr1366*					USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Nonsense_Mutation_p.Y1049*|USP6_ENST00000250066.6_Nonsense_Mutation_p.Y1366*	p.Y1366*			P35125	UBP6_HUMAN			38	6328	+			1366					Q15634|Q86WP6|Q8IWT4	Nonsense_Mutation	SNP	ENST00000574788.1	37	c.4098T>A	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	T	52	19.007308	0.99913	.	.	ENSG00000129204	ENST00000250066;ENST00000304328	.	.	.	2.35	1.25	0.21368	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.584	0.07963	0.0:0.355:0.0:0.645	.	.	.	.	X	1366;1049	.	ENSP00000250066:Y1366X	Y	+	3	2	USP6	5016874	0.994000	0.37717	1.000000	0.80357	0.491000	0.33493	0.327000	0.19663	1.080000	0.41073	0.155000	0.16302	TAT		0.428	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		44	115	0	0	0	0.00361	0	44	115					A	5076150	T	A	5076150	4	1	211	1	0	0	0	0	0	1	0	0	17083	1471	51	5	4212	5	USP6	17	5076150	Nonsense_Mutation	SNP	T	TCGA-EL-A3GP-01A-11D-A202-08		5076150	76119060	22	4431											
WSCD1	23302	broad.mit.edu	37	chr17	6014123	6014123	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagacaggaggttcctgcctAacaaatccaaagtgtttgtg	10	9	0	1			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr17:6014123A>C	ENST00000574946.1	+	7	1432	c.1042A>C	c.(1042-1044)Aac>Cac	p.N348H	WSCD1_ENST00000573634.1_Missense_Mutation_p.N232H|WSCD1_ENST00000574232.1_Missense_Mutation_p.N348H|WSCD1_ENST00000317744.5_Missense_Mutation_p.N348H|WSCD1_ENST00000539421.1_Missense_Mutation_p.N348H			Q658N2	WSCD1_HUMAN	WSC domain containing 1	348						integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GTTCCTGCCTAACAAATCCAA	0.493																																						ENST00000574946.1																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						c.(1042-1044)Aac>Cac		WSC domain containing 1							241	234	236					17																	6014123		2203	4300	6503	SO:0001583	missense	23302					integral to membrane	sulfotransferase activity	g.chr17:6014123A>C		CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.1042A>C	17.37:g.6014123A>C	ENSP00000460825:p.Asn348His					WSCD1_ENST00000573634.1_Missense_Mutation_p.N232H|WSCD1_ENST00000539421.1_Missense_Mutation_p.N348H|WSCD1_ENST00000317744.5_Missense_Mutation_p.N348H|WSCD1_ENST00000574232.1_Missense_Mutation_p.N348H	p.N348H			Q658N2	WSCD1_HUMAN			7	1432	+			348					A8K0N8|D3DTM3|O60276|Q96G45	Missense_Mutation	SNP	ENST00000574946.1	37	c.1042A>C	CCDS32538.1	.	.	.	.	.	.	.	.	.	.	A	12.48	1.951663	0.34471	.	.	ENSG00000179314	ENST00000317744;ENST00000539421	T;T	0.31510	1.49;1.49	5.66	-1.23	0.09465	.	0.921371	0.09494	N	0.794513	T	0.17109	0.0411	L	0.27053	0.805	0.09310	N	1	B	0.24368	0.102	B	0.24541	0.054	T	0.28996	-1.0026	10	0.45353	T	0.12	-11.4931	1.9699	0.03404	0.5349:0.1237:0.2214:0.1201	.	348	Q658N2	WSCD1_HUMAN	H	348	ENSP00000323087:N348H;ENSP00000446032:N348H	ENSP00000323087:N348H	N	+	1	0	WSCD1	5954847	0.245000	0.23899	0.893000	0.35052	0.979000	0.70002	1.548000	0.36201	0.039000	0.15632	0.528000	0.53228	AAC		0.493	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253		7	327	0	0	0	0.001984	0	7	327					C	6014123	A	C	6014123	3	2	211	1	0	0	0	0	1	0	0	0	17403	362	13	5	1064	5	WSCD1	17	6014123	Missense_Mutation	SNP	A	TCGA-EL-A3GP-01A-11D-A202-08	937973	6014123	75181087	23	4432											
KRTAP4-11	653240	broad.mit.edu	37	chr17	39274132	39274132	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggattcacagcaagaggggcGgcagcagctggagatgctgc	17	9	1	2			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr17:39274132G>A	ENST00000391413.2	-	1	474	c.436C>T	c.(436-438)Cgc>Tgc	p.R146C		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	146	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			caagaggggcggcagcagctg	0.657																																						ENST00000391413.2																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(436-438)Cgc>Tgc		keratin associated protein 4-11																																				SO:0001583	missense	653240					keratin filament		g.chr17:39274132G>A	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"Keratin associated proteins"	18911	protein-coding gene	gene with protein product			"keratin associated protein 4-14"	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.436C>T	17.37:g.39274132G>A	ENSP00000375232:p.Arg146Cys						p.R146C	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	474	-		Breast(137;0.000496)	146			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.436C>T	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	13.24	2.179095	0.38511	.	.	ENSG00000212721	ENST00000391413	T	0.01538	4.79	4.57	-2.76	0.05896	.	0.000000	0.30714	U	0.009027	T	0.02929	0.0087	M	0.82132	2.575	0.09310	N	1	B	0.27997	0.197	B	0.23018	0.043	T	0.31558	-0.9939	10	0.56958	D	0.05	.	11.6836	0.51472	0.0:0.5692:0.3083:0.1226	.	146	Q9BYQ6	KR411_HUMAN	C	146	ENSP00000375232:R146C	ENSP00000375232:R146C	R	-	1	0	KRTAP4-11	36527658	.	.	0.005000	0.12908	0.303000	0.27691	.	.	-0.302000	0.08869	0.609000	0.83330	CGC		0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			4	44	0	0	0	0.000248	0	4	44					A	39274132	G	A	39274132	3	1	211	1	0	0	0	0	1	0	0	0	8549	1116	39	1	155	1	KRTAP4-11	17	39274132	Missense_Mutation	SNP	G	TCGA-EL-A3GP-01A-11D-A202-08	33260009	39274132	41921078	24	4433											
ASXL1	171023	broad.mit.edu	37	chr20	31022741	31022741	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acagttggactcacagatggGctaggagatgcctcccaact	11	11	1	2			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr20:31022741G>C	ENST00000375687.4	+	13	2650	c.2226G>C	c.(2224-2226)ggG>ggC	p.G742G	ASXL1_ENST00000306058.5_Silent_p.G737G	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	742					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TCACAGATGGGCTAGGAGATG	0.577			"F, N, Mis"		"MDS, CMML"																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"F, N, Mis"	additional sex combs like 1			L			"MDS, CMML"		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(2224-2226)ggG>ggC		additional sex combs like 1 (Drosophila)							55	56	56					20																	31022741		2203	4300	6503	SO:0001819	synonymous_variant	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31022741G>C	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.2226G>C	20.37:g.31022741G>C						ASXL1_ENST00000306058.5_Silent_p.G737G	p.G742G	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			13	2650	+			742					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	ENST00000375687.4	37	c.2226G>C	CCDS13201.1																																																																																				0.577	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		16	25	0	0	0	0.004007	0	16	25					C	31022741	G	C	31022741	2	2	211	1	0	0	0	0	0	0	0	1	1066	1190	42	4		4	ASXL1	20	31022741	Silent	SNP	G	TCGA-EL-A3GP-01A-11D-A202-08		31022741	32002779	25	4434											
KIAA1755	85449	broad.mit.edu	37	chr20	36869357	36869357	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggaggcagctggctcttgTgagacacctgccctgagacc	13	12	1	2			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr20:36869357T>C	ENST00000279024.4	-	3	1447	c.1176A>G	c.(1174-1176)tcA>tcG	p.S392S		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	392										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CTGGCTCTTGTGAGACACCTG	0.587																																						ENST00000279024.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(1174-1176)tcA>tcG		KIAA1755							85	88	87					20																	36869357		2203	4300	6503	SO:0001819	synonymous_variant	85449							g.chr20:36869357T>C	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.1176A>G	20.37:g.36869357T>C							p.S392S	NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN			3	1447	-		Myeloproliferative disorder(115;0.00874)	392					Q9C0A8	Silent	SNP	ENST00000279024.4	37	c.1176A>G	CCDS33467.1																																																																																				0.587	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		71	158	0	0	0	0.00361	0	71	158					C	36869357	T	C	36869357	2	2	211	1	0	0	0	0	0	0	0	1	8257	1683	59	3		3	KIAA1755	20	36869357	Silent	SNP	T	TCGA-EL-A3GP-01A-11D-A202-08	5846616	36869357	26156163	26	4435											
CYTH4	27128	broad.mit.edu	37	chr22	37688673	37688673	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctctgtagagcccgcggagCtgagcagcggggagacggaa	17	10	1	3			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr22:37688673C>A	ENST00000248901.6	+	2	218	c.31C>A	c.(31-33)Ctg>Atg	p.L11M	CYTH4_ENST00000439667.1_3'UTR|CYTH4_ENST00000402997.1_Missense_Mutation_p.L11M|CYTH4_ENST00000405206.3_Missense_Mutation_p.L11M	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	11					positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GCCCGCGGAGCTGAGCAGCGG	0.612																																						ENST00000248901.6																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						c.(31-33)Ctg>Atg		cytohesin 4							143	125	131					22																	37688673		2203	4300	6503	SO:0001583	missense	27128				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr22:37688673C>A	AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"Pleckstrin homology (PH) domain containing"	9505	protein-coding gene	gene with protein product		606514	"pleckstrin homology, Sec7 and coiled/coil domains 4", "pleckstrin homology, Sec7 and coiled-coil domains 4"	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.31C>A	22.37:g.37688673C>A	ENSP00000248901:p.Leu11Met					CYTH4_ENST00000402997.1_Missense_Mutation_p.L11M|CYTH4_ENST00000405206.3_Missense_Mutation_p.L11M|CYTH4_ENST00000439667.1_3'UTR	p.L11M	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN			2	218	+			11					Q5R3F9|Q9UGT6	Missense_Mutation	SNP	ENST00000248901.6	37	c.31C>A	CCDS13946.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.880178	0.51801	.	.	ENSG00000100055	ENST00000457992;ENST00000248901;ENST00000422721;ENST00000402997;ENST00000405206;ENST00000404204	T;T;T;T	0.57436	0.4;2.8;0.45;0.43	4.83	4.83	0.62350	.	1.012730	0.07907	N	0.973581	T	0.73273	0.3566	M	0.81802	2.56	0.22017	N	0.999412	D;D	0.89917	0.999;1.0	D;D	0.76071	0.98;0.987	T	0.58165	-0.7684	10	0.62326	D	0.03	.	9.188	0.37182	0.0:0.9001:0.0:0.0999	.	11;24	Q9UIA0;Q9H7Q0	CYH4_HUMAN;.	M	11;11;24;11;11;11	ENSP00000405442:L11M;ENSP00000248901:L11M;ENSP00000385997:L11M;ENSP00000384280:L11M	ENSP00000248901:L11M	L	+	1	2	CYTH4	36018619	1.000000	0.71417	0.997000	0.53966	0.314000	0.28054	2.572000	0.45999	2.236000	0.73375	0.561000	0.74099	CTG		0.612	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318917.1			36	46	1	0	9.62906e-15	0.00623	1.69238e-14	36	46					A	37688673	C	A	37688673	3	1	211	1	0	0	0	0	1	0	0	0	4206	796	28	4	37	4	CYTH4	22	37688673	Missense_Mutation	SNP	C	TCGA-EL-A3GP-01A-11D-A202-08		37688673	13615893	27	4436											
CENPF	1063	broad.mit.edu	37	chr1	214794133	214794133	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaattctcaaagaactccaAttaggagagatttctctgca	6	9	2	2			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr1:214794133A>G	ENST00000366955.3	+	6	877	c.709A>G	c.(709-711)Att>Gtt	p.I237V		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0	Interaction with SNAP25 and required for localization to the cytoplasm. {ECO:0000250}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAGAACTCCAATTAGGAGAGA	0.438																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(709-711)Att>Gtt		centromere protein F, 350/400kDa							96	107	103					1																	214794133		2203	4300	6503	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214794133A>G	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.709A>G	1.37:g.214794133A>G	ENSP00000355922:p.Ile237Val						p.I237V	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	6	877	+			237			Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.709A>G	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	A	7.448	0.642033	0.14451	.	.	ENSG00000117724	ENST00000366955	T	0.21031	2.03	6.0	-7.79	0.01218	Centromere protein Cenp-F, N-terminal (1);	2.484470	0.02037	N	0.049033	T	0.08133	0.0203	.	.	.	0.09310	N	1	B	0.19935	0.04	B	0.20577	0.03	T	0.42582	-0.9443	9	0.02654	T	1	.	11.6792	0.51448	0.2175:0.3471:0.4354:0.0	.	237	P49454	CENPF_HUMAN	V	237	ENSP00000355922:I237V	ENSP00000355922:I237V	I	+	1	0	CENPF	212860756	0.000000	0.05858	0.000000	0.03702	0.954000	0.61252	-0.753000	0.04792	-1.127000	0.02925	-0.520000	0.04383	ATT		0.438	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		4	169	0	0	0	0.000602	0	4	169					G	214794133	A	G	214794133	3	3	212	1	0	0	0	0	1	0	0	0	3231	101	4	3	727	3	CENPF	1	214794133	Missense_Mutation	SNP	A	TCGA-EL-A3GQ-01A-11D-A202-08		214794133	34456488	1	4437											
SEC22C	9117	broad.mit.edu	37	chr3	42597460	42597460	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaaaggaacaagaaaagccaGaatgtttccaatttcctcat	7	8	1	2			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr3:42597460G>A	ENST00000264454.3	-	6	816	c.673C>T	c.(673-675)Ctg>Ttg	p.L225L	SEC22C_ENST00000417572.1_Silent_p.L225L|SEC22C_ENST00000273156.7_Silent_p.L225L|SEC22C_ENST00000423701.2_Intron|SEC22C_ENST00000536332.1_Silent_p.L155L			Q9BRL7	SC22C_HUMAN	SEC22 vesicle trafficking protein homolog C (S. cerevisiae)	225					ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		AGAAAAGCCAGAATGTTTCCA	0.383																																						ENST00000273156.7																			0				endometrium(1)|large_intestine(2)	3						c.(673-675)Ctg>Ttg		SEC22 vesicle trafficking protein homolog C (S. cerevisiae)							117	102	107					3																	42597460		2203	4300	6503	SO:0001819	synonymous_variant	9117				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane		g.chr3:42597460G>A	AF039568	CCDS2699.1, CCDS2700.1, CCDS56246.1	3p24.3-p22.1	2006-04-25	2006-04-25	2006-04-25	ENSG00000093183	ENSG00000093183			16828	protein-coding gene	gene with protein product		604028	"SEC22 vesicle trafficking protein-like 3 (S. cerevisiae)"	SEC22L3		9501016, 11001058	Standard	NM_004206		Approved	MGC13261, MGC5373	uc003clj.3	Q9BRL7	OTTHUMG00000131797	ENST00000264454.3:c.673C>T	3.37:g.42597460G>A						SEC22C_ENST00000264454.3_Silent_p.L225L|SEC22C_ENST00000536332.1_Silent_p.L155L|SEC22C_ENST00000417572.1_Silent_p.L225L|SEC22C_ENST00000423701.2_Intron	p.L225L	NM_004206.3|NM_032970.3	NP_004197.1|NP_116752.1	Q9BRL7	SC22C_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.222)	6	882	-			225					O95152|Q68CX3|Q6UW18	Silent	SNP	ENST00000264454.3	37	c.673C>T	CCDS2700.1	.	.	.	.	.	.	.	.	.	.	G	8.397	0.841162	0.16891	.	.	ENSG00000093183	ENST00000451653	.	.	.	5.2	-0.151	0.13411	.	.	.	.	.	T	0.40498	0.1119	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.23655	-1.0182	4	.	.	.	-30.8509	1.2999	0.02077	0.2252:0.2097:0.3881:0.177	.	.	.	.	F	146	.	.	S	-	2	0	SEC22C	42572464	0.097000	0.21791	0.992000	0.48379	0.966000	0.64601	0.148000	0.16224	0.027000	0.15297	0.650000	0.86243	TCT		0.383	SEC22C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254734.1	NM_004206		22	28	0	0	0	0.003954	0	22	28					A	42597460	G	A	42597460	2	1	212	1	0	0	0	0	0	0	0	1	13990	933	33	2		2	SEC22C	3	42597460	Silent	SNP	G	TCGA-EL-A3GQ-01A-11D-A202-08		42597460	155424970	2	4438											
CASR	846	broad.mit.edu	37	chr3	121980542	121980542	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgatgacgactatgggcgGccggggattgagaaattccg	16	8	0	3			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr3:121980542G>A	ENST00000490131.1	+	4	1032	c.660G>A	c.(658-660)cgG>cgA	p.R220R	CASR_ENST00000296154.5_Silent_p.R220R|CASR_ENST00000498619.1_Silent_p.R220R	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	220					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)	ACTATGGGCGGCCGGGGATTG	0.532																																						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.(658-660)cgG>cgA		calcium-sensing receptor	Cinacalcet(DB01012)						127	138	134					3																	121980542		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.chr3:121980542G>A	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.660G>A	3.37:g.121980542G>A						CASR_ENST00000490131.1_Silent_p.R220R|CASR_ENST00000296154.5_Silent_p.R220R	p.R220R	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	4	1098	+			220					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	37	c.660G>A	CCDS3010.1																																																																																				0.532	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		4	202	0	0	0	0.000248	0	4	202					A	121980542	G	A	121980542	2	1	212	1	0	0	0	0	0	0	0	1	2682	1190	42	2		2	CASR	3	121980542	Silent	SNP	G	TCGA-EL-A3GQ-01A-11D-A202-08	79383082	121980542	76041888	3	4439											
CRIPAK	285464	broad.mit.edu	37	chr4	1389234	1389234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgacgtggagtgcccgcctGctcacgtgcccatatggagt	13	14	1	0	rs550271289		TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr4:1389234G>A	ENST00000324803.4	+	1	3895	c.935G>A	c.(934-936)tGc>tAc	p.C312Y		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	312					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P310fs*95(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GTGCCCGCCTGCTCACGTGCC	0.667													-|||	1	0.000199681	0	0	5008	,	,		13722	0		0	False		,,,				2504	0.001					ENST00000324803.4																			1	Deletion - Frameshift(1)	p.P310fs*95(1)	prostate(1)	NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(934-936)tGc>tAc		cysteine-rich PAK1 inhibitor							161	164	163					4																	1389234		2202	4300	6502	SO:0001583	missense	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1389234G>A	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.935G>A	4.37:g.1389234G>A	ENSP00000323978:p.Cys312Tyr						p.C312Y	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3895	+			312					Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	c.935G>A	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	G	7.541	0.660768	0.14645	.	.	ENSG00000179979	ENST00000324803;ENST00000382944	T	0.18502	2.21	0.815	-1.49	0.08718	.	.	.	.	.	T	0.07052	0.0179	N	0.08118	0	0.09310	N	1	B	0.20052	0.041	B	0.14023	0.01	T	0.34129	-0.9841	9	0.39692	T	0.17	.	4.2763	0.10811	0.7492:0.0:0.2508:0.0	.	312	Q8N1N5	CRPAK_HUMAN	Y	312;254	ENSP00000323978:C312Y	ENSP00000323978:C312Y	C	+	2	0	CRIPAK	1379234	0.008000	0.16893	0.001000	0.08648	0.006000	0.05464	-0.358000	0.07641	-0.204000	0.10235	-0.506000	0.04501	TGC		0.667	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		8	428	0	0	0	0.006214	0	8	428					A	1389234	G	A	1389234	3	1	212	1	0	0	0	0	1	0	0	0	3877	1319	46	2	937	2	CRIPAK	4	1389234	Missense_Mutation	SNP	G	TCGA-EL-A3GQ-01A-11D-A202-08		1389234	189765042	4	4440											
SENP6	26054	broad.mit.edu	37	chr6	76385768	76385768	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	taaaggagtaaataaattaaCaagtaagttgtgtaaaacag	8	2	0	0			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr6:76385768C>G	ENST00000447266.2	+	13	2097	c.1619C>G	c.(1618-1620)aCa>aGa	p.T540R	SENP6_ENST00000370014.3_Missense_Mutation_p.T540R|SENP6_ENST00000541192.1_Missense_Mutation_p.T136R|SENP6_ENST00000370010.2_Missense_Mutation_p.T533R|SENP6_ENST00000327284.8_Missense_Mutation_p.T533R	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	540					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AATAAATTAACAAGTAAGTTG	0.303																																						ENST00000370014.3																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1618-1620)aCa>aGa		SUMO1/sentrin specific peptidase 6							47	42	43					6																	76385768		1801	4060	5861	SO:0001583	missense	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76385768C>G		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"SUMO1/sentrin specific protease 6"				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.1619C>G	6.37:g.76385768C>G	ENSP00000402527:p.Thr540Arg					SENP6_ENST00000327284.8_Missense_Mutation_p.T533R|SENP6_ENST00000370010.2_Missense_Mutation_p.T533R|SENP6_ENST00000541192.1_Missense_Mutation_p.T136R|SENP6_ENST00000447266.2_Missense_Mutation_p.T540R	p.T540R	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN			13	2238	+		all_hematologic(105;0.189)	540					A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	ENST00000447266.2	37	c.1619C>G	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.702980	0.30232	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000327284;ENST00000447266;ENST00000424947;ENST00000541192	T;T;T;T;T;T	0.32753	2.69;2.69;1.44;2.69;1.45;1.49	4.35	2.48	0.30137	.	0.621168	0.16117	N	0.228830	T	0.08447	0.0210	L	0.44542	1.39	0.28300	N	0.923144	B;B;B	0.15473	0.004;0.003;0.013	B;B;B	0.17433	0.004;0.003;0.018	T	0.22836	-1.0205	10	0.23302	T	0.38	-6.8862	4.5962	0.12330	0.2195:0.6681:0.0:0.1124	.	533;540;533	Q9GZR1-2;Q9GZR1;F8W6D9	.;SENP6_HUMAN;.	R	533;540;533;540;430;136	ENSP00000359027:T533R;ENSP00000359031:T540R;ENSP00000321820:T533R;ENSP00000402527:T540R;ENSP00000391426:T430R;ENSP00000441715:T136R	ENSP00000321820:T533R	T	+	2	0	SENP6	76442488	0.998000	0.40836	0.987000	0.45799	0.877000	0.50540	0.556000	0.23438	1.131000	0.42111	0.650000	0.86243	ACA		0.303	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		9	26	0	0	0	0.006214	0	9	26					G	76385768	C	G	76385768	3	3	212	1	0	0	0	0	1	0	0	0	14050	478	17	4	1669	4	SENP6	6	76385768	Missense_Mutation	SNP	C	TCGA-EL-A3GQ-01A-11D-A202-08		76385768	94729299	5	4441											
LAMB1	3912	broad.mit.edu	37	chr7	107594163	107594163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaacttctgatggattgCcaaagtatcctgaggcacag	9	12	1	2			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr7:107594163C>T	ENST00000222399.6	-	22	3121	c.2891G>A	c.(2890-2892)gGc>gAc	p.G964D	LAMB1_ENST00000393561.1_Missense_Mutation_p.G988D	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	964	Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	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-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						TGATGGATTGCCAAAGTATCC	0.502																																						ENST00000393561.1																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(2962-2964)gGc>gAc		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						120	105	110					7																	107594163		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107594163C>T	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.2891G>A	7.37:g.107594163C>T	ENSP00000222399:p.Gly964Asp					LAMB1_ENST00000222399.6_Missense_Mutation_p.G964D	p.G988D			P07942	LAMB1_HUMAN			20	3147	-			964			Laminin EGF-like 10.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.2963G>A	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908323	0.92107	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.66099	-0.19;-0.19	5.01	5.01	0.66863	EGF-like, laminin (4);	.	.	.	.	D	0.86678	0.5990	H	0.96691	3.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90898	0.4766	9	0.87932	D	0	.	18.8729	0.92324	0.0:1.0:0.0:0.0	.	964;988	P07942;G3XAI2	LAMB1_HUMAN;.	D	988;964	ENSP00000377191:G988D;ENSP00000222399:G964D	ENSP00000222399:G964D	G	-	2	0	LAMB1	107381399	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	7.651000	0.83577	2.763000	0.94921	0.650000	0.86243	GGC		0.502	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		8	119	0	0	0	0.006214	0	8	119					T	107594163	C	T	107594163	3	4	212	1	0	0	0	0	1	0	0	0	8610	739	26	2	2521	2	LAMB1	7	107594163	Missense_Mutation	SNP	C	TCGA-EL-A3GQ-01A-11D-A202-08		107594163	51544500	6	4442											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		33	68	0	0	0	0.003755	0	33	68					T	140453136	A	T	140453136	3	4	212	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3GQ-01A-11D-A202-08	32858973	140453136	18685527	7	4443											
DNAJC1	64215	broad.mit.edu	37	chr10	22048118	22048118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgctcttggacgggacaCatctggctattttgtcccag	10	12	2	0	rs199787384		TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr10:22048118C>T	ENST00000376980.3	-	11	1867	c.1577G>A	c.(1576-1578)tGt>tAt	p.C526Y	DNAJC1_ENST00000483085.1_5'Flank	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	526	SANT 2. {ECO:0000255|PROSITE- ProRule:PRU00624}.				negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				GGACGGGACACATCTGGCTAT	0.547																																						ENST00000376980.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21						c.(1576-1578)tGt>tAt		DnaJ (Hsp40) homolog, subfamily C, member 1							137	138	138					10																	22048118		2203	4300	6503	SO:0001583	missense	64215				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding	g.chr10:22048118C>T	AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"Heat shock proteins / DNAJ (HSP40)"	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.1577G>A	10.37:g.22048118C>T	ENSP00000366179:p.Cys526Tyr						p.C526Y	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN			11	1867	-		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)	526			SANT 2.		B0YIZ8|Q5VX89|Q9H6B8	Missense_Mutation	SNP	ENST00000376980.3	37	c.1577G>A	CCDS7136.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.166663	0.38217	.	.	ENSG00000136770	ENST00000376980	T	0.39997	1.05	5.94	5.94	0.96194	Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);SANT, eukarya (1);	0.115149	0.64402	D	0.000010	T	0.53658	0.1810	L	0.42529	1.33	0.80722	D	1	D;P	0.56746	0.977;0.852	P;P	0.59171	0.853;0.469	T	0.52902	-0.8513	10	0.87932	D	0	-4.244	15.9136	0.79491	0.1358:0.8642:0.0:0.0	.	247;526	Q96NY3;Q96KC8	.;DNJC1_HUMAN	Y	526	ENSP00000366179:C526Y	ENSP00000366179:C526Y	C	-	2	0	DNAJC1	22088124	1.000000	0.71417	0.977000	0.42913	0.056000	0.15407	4.684000	0.61686	2.826000	0.97356	0.561000	0.74099	TGT		0.547	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047149.1	NM_022365		85	137	0	0	0	0.00361	0	85	137					T	22048118	C	T	22048118	3	4	212	1	0	0	0	0	1	0	0	0	4628	478	17	2	95	2	DNAJC1	10	22048118	Missense_Mutation	SNP	C	TCGA-EL-A3GQ-01A-11D-A202-08		22048118	113486629	8	4444											
HKDC1	80201	broad.mit.edu	37	chr10	71026453	71026453	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagaagatggcagtggaaaAggggcagcactgatcactgc	14	8	2	3			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr10:71026453A>G	ENST00000354624.5	+	18	2827	c.2694A>G	c.(2692-2694)aaA>aaG	p.K898K	RP11-227H15.5_ENST00000413220.1_RNA	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	898	Hexokinase type-2 2.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)	p.K898K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GCAGTGGAAAAGGGGCAGCAC	0.478																																						ENST00000354624.5																			1	Substitution - coding silent(1)	p.K898K(1)	kidney(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(2692-2694)aaA>aaG		hexokinase domain containing 1							156	136	142					10																	71026453		2203	4300	6503	SO:0001819	synonymous_variant	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:71026453A>G		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.2694A>G	10.37:g.71026453A>G						RP11-227H15.5_ENST00000413220.1_RNA	p.K898K	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN			18	2827	+			898					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Silent	SNP	ENST00000354624.5	37	c.2694A>G	CCDS7288.1																																																																																				0.478	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		3	164	0	0	0	0.004672	0	3	164					G	71026453	A	G	71026453	2	3	212	1	0	0	0	0	0	0	0	1	7193	69	3	3		3	HKDC1	10	71026453	Silent	SNP	A	TCGA-EL-A3GQ-01A-11D-A202-08	48978335	71026453	64508294	9	4445											
ADAM8	101	broad.mit.edu	37	chr10	135084771	135084771	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagctggcaggtggtagagTtgcagcagcggttccggcag	17	10	0	1			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr10:135084771T>C	ENST00000445355.3	-	13	1357	c.1307A>G	c.(1306-1308)aAc>aGc	p.N436S	ADAM8_ENST00000415217.3_Missense_Mutation_p.N436S|ADAM8_ENST00000559180.1_5'Flank|ADAM8_ENST00000485491.2_Missense_Mutation_p.N397S	NM_001109.4	NP_001100.3	P78325	ADAM8_HUMAN	ADAM metallopeptidase domain 8	436	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				activation of MAPK activity involved in innate immune response (GO:0035419)|angiogenesis (GO:0001525)|cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration involved in inflammatory response (GO:0002523)|lymphocyte chemotaxis (GO:0048247)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell adhesion (GO:0045785)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of fibronectin-dependent thymocyte migration (GO:2000415)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neutrophil extravasation (GO:2000391)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein processing (GO:0010954)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|regulation of cell-cell adhesion (GO:0022407)|single organismal cell-cell adhesion (GO:0016337)	alpha9-beta1 integrin-ADAM8 complex (GO:0071133)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dense core granule membrane (GO:0032127)|integral component of plasma membrane (GO:0005887)|phagolysosome (GO:0032010)|plasma membrane (GO:0005886)|podosome (GO:0002102)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein self-association (GO:0043621)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		GGTGGTAGAGTTGCAGCAGCG	0.706																																						ENST00000445355.3																			0				central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17						c.(1306-1308)aAc>aGc		ADAM metallopeptidase domain 8							26	27	27					10																	135084771		2188	4292	6480	SO:0001583	missense	101				integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity	g.chr10:135084771T>C	D26579	CCDS31319.2, CCDS58102.1, CCDS58103.1	10q26.3	2014-03-20	2005-08-18		ENSG00000151651	ENSG00000151651		"ADAM metallopeptidase domain containing", "CD molecules"	215	protein-coding gene	gene with protein product		602267	"a disintegrin and metalloproteinase domain 8"			9126482	Standard	NM_001109		Approved	CD156, MS2, CD156a	uc021qbe.1	P78325	OTTHUMG00000019309	ENST00000445355.3:c.1307A>G	10.37:g.135084771T>C	ENSP00000453302:p.Asn436Ser					ADAM8_ENST00000415217.3_Missense_Mutation_p.N436S|ADAM8_ENST00000485491.2_Missense_Mutation_p.N397S	p.N436S	NM_001109.4	NP_001100.3	B4DVM6	B4DVM6_HUMAN		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)	13	1357	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	397					B4DVM6|H0YL36|H0YLR0|H0YN39	Missense_Mutation	SNP	ENST00000445355.3	37	c.1307A>G	CCDS31319.2																																																																																				0.706	ADAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051118.4	NM_001109		12	18	0	0	0	0.001855	0	12	18					C	135084771	T	C	135084771	3	2	212	1	0	0	0	0	1	0	0	0	252	1725	60	3	1129	3	ADAM8	10	135084771	Missense_Mutation	SNP	T	TCGA-EL-A3GQ-01A-11D-A202-08	64058318	135084771	449976	10	4446											
SERPINH1	871	broad.mit.edu	37	chr11	75277986	75277986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtggagcgcacggacggcGccctgctagtcaacgccatg	14	14	1	0			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr11:75277986G>A	ENST00000524558.1	+	2	2027	c.592G>A	c.(592-594)Gcc>Acc	p.A198T	SERPINH1_ENST00000358171.3_Missense_Mutation_p.A198T|SERPINH1_ENST00000525876.1_5'Flank|SERPINH1_ENST00000533603.1_Missense_Mutation_p.A198T|SERPINH1_ENST00000530284.1_Missense_Mutation_p.A198T			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	198					chondrocyte development involved in endochondral bone morphogenesis (GO:0003433)|collagen biosynthetic process (GO:0032964)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|protein maturation (GO:0051604)|regulation of proteolysis (GO:0030162)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					CACGGACGGCGCCCTGCTAGT	0.657																																						ENST00000524558.1																			0				endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15						c.(592-594)Gcc>Acc		serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)							30	29	29					11																	75277986		2196	4286	6482	SO:0001583	missense	871				regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity	g.chr11:75277986G>A	X61598	CCDS8239.1	11q13.5	2014-02-18	2005-08-18		ENSG00000149257	ENSG00000149257		"Serine (or cysteine) peptidase inhibitors"	1546	protein-coding gene	gene with protein product		600943	"serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2", "serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)"	CBP1, CBP2, SERPINH2		7656593, 9533029, 24172014	Standard	NM_001207014		Approved	HSP47, colligen	uc001owr.3	P50454	OTTHUMG00000165362	ENST00000524558.1:c.592G>A	11.37:g.75277986G>A	ENSP00000434412:p.Ala198Thr					SERPINH1_ENST00000530284.1_Missense_Mutation_p.A198T|SERPINH1_ENST00000358171.3_Missense_Mutation_p.A198T|SERPINH1_ENST00000533603.1_Missense_Mutation_p.A198T	p.A198T			P50454	SERPH_HUMAN			2	2027	+	Ovarian(111;0.11)		198					B3KVJ3|P29043|Q5XPB4|Q6NSJ6|Q8IY96|Q9NP88	Missense_Mutation	SNP	ENST00000524558.1	37	c.592G>A	CCDS8239.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349727	0.82132	.	.	ENSG00000149257	ENST00000533603;ENST00000358171;ENST00000526397;ENST00000421448;ENST00000530284;ENST00000532356;ENST00000524558;ENST00000525611;ENST00000528760	D;D;D;D;D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88	4.66	4.66	0.58398	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.91476	0.7309	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72982	0.977;0.979	D	0.92557	0.6055	10	0.72032	D	0.01	.	15.0624	0.71964	0.0:0.0:1.0:0.0	.	198;198	E9PPV6;P50454	.;SERPH_HUMAN	T	198;198;198;177;198;198;198;198;198	ENSP00000434657:A198T;ENSP00000350894:A198T;ENSP00000434964:A198T;ENSP00000436305:A198T;ENSP00000436040:A198T;ENSP00000434412:A198T;ENSP00000435452:A198T;ENSP00000437108:A198T	ENSP00000350894:A198T	A	+	1	0	SERPINH1	74955634	1.000000	0.71417	0.709000	0.30452	0.758000	0.43043	7.826000	0.86716	2.140000	0.66376	0.563000	0.77884	GCC		0.657	SERPINH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383610.1	NM_004353		29	45	0	0	0	0.002836	0	29	45					A	75277986	G	A	75277986	3	1	212	1	0	0	0	0	1	0	0	0	14117	1087	38	1	594	1	SERPINH1	11	75277986	Missense_Mutation	SNP	G	TCGA-EL-A3GQ-01A-11D-A202-08		75277986	59728530	11	4447											
CCDC88C	440193	broad.mit.edu	37	chr14	91770293	91770293	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactgcgcggtgagcgctgcGctctgggaactcagcgtgga	16	11	2	1			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr14:91770293G>A	ENST00000389857.6	-	20	3473	c.3387C>T	c.(3385-3387)agC>agT	p.S1129S		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1129					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)	p.S1129S(1)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGAGCGCTGCGCTCTGGGAAC	0.657																																						ENST00000389857.6																			1	Substitution - coding silent(1)	p.S1129S(1)	large_intestine(1)	central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(3385-3387)agC>agT		coiled-coil domain containing 88C							52	59	56					14																	91770293		2133	4251	6384	SO:0001819	synonymous_variant	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91770293G>A		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40"	611204	"KIAA1509"	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.3387C>T	14.37:g.91770293G>A							p.S1129S	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			20	3473	-		all_cancers(154;0.0468)	1129					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Silent	SNP	ENST00000389857.6	37	c.3387C>T	CCDS45151.1																																																																																				0.657	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		40	56	0	0	0	0.003214	0	40	56					A	91770293	G	A	91770293	2	1	212	1	0	0	0	0	0	0	0	1	2865	1078	38	1		1	CCDC88C	14	91770293	Silent	SNP	G	TCGA-EL-A3GQ-01A-11D-A202-08		91770293	15579247	12	4448											
GRIN2A	2903	broad.mit.edu	37	chr16	9923438	9923438	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttaggattctggacaggcaCggagttattgaacaccaggc	12	8	1	1			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr16:9923438C>A	ENST00000396573.2	-	10	2158	c.1849G>T	c.(1849-1851)Gtg>Ttg	p.V617L	GRIN2A_ENST00000562109.1_Missense_Mutation_p.V617L|GRIN2A_ENST00000404927.2_Missense_Mutation_p.V617L|GRIN2A_ENST00000396575.2_Missense_Mutation_p.V617L|GRIN2A_ENST00000535259.1_Missense_Mutation_p.V460L|GRIN2A_ENST00000330684.3_Missense_Mutation_p.V617L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	617					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGGACAGGCACGGAGTTATTG	0.488																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(1849-1851)Gtg>Ttg		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						100	88	92					16																	9923438		2197	4300	6497	SO:0001583	missense	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9923438C>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1849G>T	16.37:g.9923438C>A	ENSP00000379818:p.Val617Leu					GRIN2A_ENST00000404927.2_Missense_Mutation_p.V617L|GRIN2A_ENST00000330684.3_Missense_Mutation_p.V617L|GRIN2A_ENST00000396575.2_Missense_Mutation_p.V617L|GRIN2A_ENST00000535259.1_Missense_Mutation_p.V460L|GRIN2A_ENST00000562109.1_Missense_Mutation_p.V617L	p.V617L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			10	2158	-			617					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.1849G>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053032	0.93793	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58	5.27	5.27	0.74061	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.70263	0.3204	M	0.64567	1.98	0.80722	D	1	D;D;D	0.69078	0.986;0.989;0.997	D;D;D	0.80764	0.932;0.941;0.994	T	0.69476	-0.5135	9	.	.	.	.	17.9016	0.88906	0.0:1.0:0.0:0.0	.	460;617;617	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	L	617;617;460;617;617	ENSP00000379818:V617L;ENSP00000385872:V617L;ENSP00000441572:V460L;ENSP00000332549:V617L;ENSP00000379820:V617L	.	V	-	1	0	GRIN2A	9830939	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.681000	0.84073	2.465000	0.83290	0.655000	0.94253	GTG		0.488	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			32	59	1	0	2.42023e-17	0.003271	3.33825e-17	32	59					A	9923438	C	A	9923438	3	1	212	1	0	0	0	0	1	0	0	0	6779	536	19	4	2565	4	GRIN2A	16	9923438	Missense_Mutation	SNP	C	TCGA-EL-A3GQ-01A-11D-A202-08		9923438	80431315	13	4449											
VTN	7448	broad.mit.edu	37	chr17	26696674	26696674	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcccctcaggcttagaggcgCccacctcaggcgcaggggcc	13	17	2	1			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr17:26696674C>G	ENST00000226218.4	-	3	1001	c.383G>C	c.(382-384)gGc>gCc	p.G128A	TMEM199_ENST00000509083.1_Intron|CTB-96E2.3_ENST00000591482.1_RNA|SARM1_ENST00000379061.4_Intron|SARM1_ENST00000457710.3_5'Flank|VTN_ENST00000438614.1_5'Flank|CTB-96E2.2_ENST00000555059.2_5'Flank|VTN_ENST00000536498.1_5'UTR	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	128					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	CTTAGAGGCGCCCACCTCAGG	0.627																																						ENST00000226218.4																			0				kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(382-384)gGc>gCc		vitronectin	Urokinase(DB00013)						30	31	30					17																	26696674		2203	4300	6503	SO:0001583	missense	7448				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity	g.chr17:26696674C>G	BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"Endogenous ligands"	12724	protein-coding gene	gene with protein product	"serum spreading factor", "somatomedin B", "complement S-protein"	193190	"vitronectin (serum spreading factor, somatomedin B, complement S-protein)"			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500	ENST00000226218.4:c.383G>C	17.37:g.26696674C>G	ENSP00000226218:p.Gly128Ala					CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Intron|SARM1_ENST00000379061.4_Intron|SEBOX_ENST00000536498.1_5'UTR	p.G128A	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	3	1001	-	all_lung(13;0.000533)|Lung NSC(42;0.00171)		128					B2R7G0|P01141|Q9BSH7	Missense_Mutation	SNP	ENST00000226218.4	37	c.383G>C	CCDS11229.1	.	.	.	.	.	.	.	.	.	.	C	2.814	-0.246307	0.05906	.	.	ENSG00000255604	ENST00000226218	T	0.03920	3.76	5.06	-10.1	0.00402	.	6.819190	0.00927	N	0.002665	T	0.02571	0.0078	N	0.22421	0.69	0.09310	N	1	B	0.30406	0.278	B	0.24974	0.057	T	0.28776	-1.0033	10	0.09590	T	0.72	5.0E-4	7.3288	0.26571	0.0837:0.2305:0.0829:0.603	.	128	P04004	VTNC_HUMAN	A	128	ENSP00000226218:G128A	ENSP00000226218:G128A	G	-	2	0	AC002094.1	23720801	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.336000	0.07863	-2.335000	0.00629	-0.466000	0.05196	GGC		0.627	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2	NM_000638		21	34	0	0	0	0.001882	0	21	34					G	26696674	C	G	26696674	3	3	212	1	0	0	0	0	1	0	0	0	17234	739	26	4	1077	4	VTN	17	26696674	Missense_Mutation	SNP	C	TCGA-EL-A3GQ-01A-11D-A202-08		26696674	54498536	14	4450											
KRTAP9-3	83900	broad.mit.edu	37	chr17	39388991	39388991	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcctgctgtagcacacccTgctgccagcccacatgctgt	8	17	0	0	rs371187451		TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr17:39388991T>G	ENST00000411528.2	+	1	277	c.238T>G	c.(238-240)Tgc>Ggc	p.C80G		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	80	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament (GO:0045095)				breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TAGCACACCCTGCTGCCAGCC	0.587																																						ENST00000411528.2																			0				breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8						c.(238-240)Tgc>Ggc		keratin associated protein 9-3							86	88	87					17																	39388991		2095	4300	6395	SO:0001583	missense	83900					keratin filament	protein binding	g.chr17:39388991T>G	AJ406947	CCDS11385.1	17q21.2	2013-06-25			ENSG00000204873	ENSG00000204873		"Keratin associated proteins"	16927	protein-coding gene	gene with protein product						11279113	Standard	NM_031962		Approved	KAP9.3	uc021txg.1	Q9BYQ3	OTTHUMG00000133427	ENST00000411528.2:c.238T>G	17.37:g.39388991T>G	ENSP00000392189:p.Cys80Gly						p.C80G	NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	277	+		Breast(137;0.000496)	80			16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].			Missense_Mutation	SNP	ENST00000411528.2	37	c.238T>G	CCDS11385.1	.	.	.	.	.	.	.	.	.	.	.	15.75	2.926868	0.52759	.	.	ENSG00000204873	ENST00000411528	T	0.03663	3.85	1.8	0.609	0.17575	.	.	.	.	.	T	0.08935	0.0221	M	0.75264	2.295	0.35283	D	0.781541	.	.	.	.	.	.	T	0.17228	-1.0376	7	0.56958	D	0.05	.	5.267	0.15605	0.2563:0.0:0.0:0.7437	.	.	.	.	G	80	ENSP00000392189:C80G	ENSP00000392189:C80G	C	+	1	0	KRTAP9-3	36642517	0.930000	0.31532	0.697000	0.30258	0.888000	0.51559	1.378000	0.34328	0.157000	0.19338	0.321000	0.21382	TGC		0.587	KRTAP9-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257290.1			46	61	0	0	0	0.00361	0	46	61					G	39388991	T	G	39388991	3	3	212	1	0	0	0	0	1	0	0	0	8574	1580	55	5	240	5	KRTAP9-3	17	39388991	Missense_Mutation	SNP	T	TCGA-EL-A3GQ-01A-11D-A202-08	12692317	39388991	41806219	15	4451											
RNFT1	51136	broad.mit.edu	37	chr17	58034708	58034708	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaacaaaagttcggtagtaTtgacacaattcttctaaaag	8	6	2	1			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr17:58034708T>C	ENST00000305783.8	-	6	937	c.882A>G	c.(880-882)caA>caG	p.Q294Q	RP11-178C3.1_ENST00000591035.1_Intron|RNFT1_ENST00000442346.2_3'UTR	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	ring finger protein, transmembrane 1	294						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			TTCGGTAGTATTGACACAATT	0.368																																						ENST00000305783.8																			0				large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(880-882)caA>caG		ring finger protein, transmembrane 1							76	67	70					17																	58034708		1833	4089	5922	SO:0001819	synonymous_variant	51136					integral to membrane	zinc ion binding	g.chr17:58034708T>C	BC006971	CCDS11622.2	17q23.2	2013-01-09			ENSG00000189050	ENSG00000189050		"RING-type (C3HC4) zinc fingers"	30206	protein-coding gene	gene with protein product		615172				12477932	Standard	NM_016125		Approved	PTD016	uc002iya.3	Q5M7Z0	OTTHUMG00000148658	ENST00000305783.8:c.882A>G	17.37:g.58034708T>C						RP11-178C3.1_ENST00000591035.1_Intron|RNFT1_ENST00000442346.2_3'UTR	p.Q294Q	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)		6	937	-	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		294					Q8N7D0|Q96IZ9|Q9Y686	Silent	SNP	ENST00000305783.8	37	c.882A>G	CCDS11622.2																																																																																				0.368	RNFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308958.1	NM_016125		37	42	0	0	0	0.005524	0	37	42					C	58034708	T	C	58034708	2	2	212	1	0	0	0	0	0	0	0	1	13501	1490	52	3		3	RNFT1	17	58034708	Silent	SNP	T	TCGA-EL-A3GQ-01A-11D-A202-08	18645717	58034708	23160502	16	4452											
REXO1	57455	broad.mit.edu	37	chr19	1820359	1820359	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgacggtggggactttgccCccaaactctttggggataat	12	9	1	1			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr19:1820359C>A	ENST00000170168.4	-	6	2524	c.2430G>T	c.(2428-2430)ggG>ggT	p.G810G	CTB-31O20.4_ENST00000590531.1_RNA|CTB-31O20.4_ENST00000587741.1_RNA|CTB-31O20.4_ENST00000593201.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	810						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		GGACTTTGCCCCCAAACTCTT	0.547																																						ENST00000170168.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16						c.(2428-2430)ggG>ggT		REX1, RNA exonuclease 1 homolog (S. cerevisiae)							91	88	89					19																	1820359		2203	4300	6503	SO:0001819	synonymous_variant	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1820359C>A	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"elongin A binding protein 1"	609614	"transcription elongation factor B polypeptide 3 binding protein 1"	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.2430G>T	19.37:g.1820359C>A							p.G810G	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_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)	6	2524	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	810					Q9ULT2	Silent	SNP	ENST00000170168.4	37	c.2430G>T	CCDS32866.1																																																																																				0.547	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		4	173	1	0	0.00116845	0.001168	0.00155793	4	173					A	1820359	C	A	1820359	2	1	212	1	0	0	0	0	0	0	0	1	13241	610	22	4		4	REXO1	19	1820359	Silent	SNP	C	TCGA-EL-A3GQ-01A-11D-A202-08		1820359	57308624	17	4453											
DDX39	10212	broad.mit.edu	37	chr19	14523412	14523412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtggccagcacgaagaccGctgtcttgcccatcccggac	13	15	1	1	rs374281705		TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr19:14523412G>A	ENST00000242776.4	-	3	388	c.287C>T	c.(286-288)gCg>gTg	p.A96V	DDX39A_ENST00000454233.2_Missense_Mutation_p.A96V|DDX39A_ENST00000592927.1_5'Flank	NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A	96	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						CACGAAGACCGCTGTCTTGCC	0.642																																						ENST00000242776.4																			0				NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						c.(286-288)gCg>gTg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	87	65	73		287	3.7	0.0	19		73	0,8600		0,0,4300	no	missense	DDX39A	NM_005804.3	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	96/428	14523412	1,13005	2203	4300	6503	SO:0001583	missense	10212				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr19:14523412G>A	U90426	CCDS12308.1	19p13.12	2011-02-08	2011-02-08	2011-02-08	ENSG00000123136	ENSG00000123136		"DEAD-boxes"	17821	protein-coding gene	gene with protein product	"UAP56-related helicase, 49 kDa"		"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 39", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 39"	DDX39		7601445	Standard	NM_005804		Approved	DDXL, BAT1L, URH49	uc002myo.3	O00148		ENST00000242776.4:c.287C>T	19.37:g.14523412G>A	ENSP00000242776:p.Ala96Val					DDX39A_ENST00000454233.2_Missense_Mutation_p.A96V	p.A96V	NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN			3	388	-			96			Helicase ATP-binding.		Q8N5M0|Q9BVP6|Q9H5W0	Missense_Mutation	SNP	ENST00000242776.4	37	c.287C>T	CCDS12308.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758792	0.69763	2.27E-4	0.0	ENSG00000123136	ENST00000451994;ENST00000242776;ENST00000324340;ENST00000454233	T;T;T	0.39592	1.07;1.07;1.07	4.75	3.72	0.42706	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60353	0.2262	M	0.77406	2.37	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.63877	0.919;0.836	T	0.64241	-0.6454	10	0.87932	D	0	-25.0003	10.6783	0.45799	0.095:0.0:0.905:0.0	.	96;96	B1Q2N1;O00148	.;DX39A_HUMAN	V	139;96;96;96	ENSP00000242776:A96V;ENSP00000322749:A96V;ENSP00000392929:A96V	ENSP00000242776:A96V	A	-	2	0	DDX39A	14384412	1.000000	0.71417	0.013000	0.15412	0.606000	0.37113	8.991000	0.93514	0.996000	0.38943	0.491000	0.48974	GCG		0.642	DDX39A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459880.1	NM_138998		13	53	0	0	0	0.001855	0	13	53					A	14523412	G	A	14523412	3	1	212	1	0	0	0	0	1	0	0	0	4357	1087	38	1	1032	1	DDX39	19	14523412	Missense_Mutation	SNP	G	TCGA-EL-A3GQ-01A-11D-A202-08	12703053	14523412	44605571	18	4454											
SLC5A5	6528	broad.mit.edu	37	chr19	18001785	18001785	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcccccaaggaagaagtggCcatcctggatgacaacttgg	13	11	0	2			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr19:18001785C>G	ENST00000222248.3	+	14	2089	c.1742C>G	c.(1741-1743)gCc>gGc	p.A581G		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	581					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GAAGAAGTGGCCATCCTGGAT	0.612																																					Melanoma(65;1008 1708 7910 46650)	ENST00000222248.3																			0				NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(1741-1743)gCc>gGc		solute carrier family 5 (sodium/iodide cotransporter), member 5							105	95	98					19																	18001785		2203	4300	6503	SO:0001583	missense	6528				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	g.chr19:18001785C>G		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"Solute carriers"	11040	protein-coding gene	gene with protein product		601843	"solute carrier family 5 (sodium iodide symporter), member 5"			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.1742C>G	19.37:g.18001785C>G	ENSP00000222248:p.Ala581Gly						p.A581G	NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN			14	2089	+			581					O43702|Q2M335|Q9NYB6	Missense_Mutation	SNP	ENST00000222248.3	37	c.1742C>G	CCDS12368.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.625030	0.28889	.	.	ENSG00000105641	ENST00000222248	D	0.86030	-2.06	4.71	2.38	0.29361	.	1.312490	0.05104	N	0.487796	T	0.75102	0.3804	L	0.34521	1.04	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.57866	-0.7737	10	0.21014	T	0.42	.	2.194	0.03906	0.2057:0.4827:0.1989:0.1127	.	581	Q92911	SC5A5_HUMAN	G	581	ENSP00000222248:A581G	ENSP00000222248:A581G	A	+	2	0	SLC5A5	17862785	0.000000	0.05858	0.001000	0.08648	0.816000	0.46133	-0.121000	0.10643	1.157000	0.42530	0.491000	0.48974	GCC		0.612	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			52	84	0	0	0	0.00361	0	52	84					G	18001785	C	G	18001785	3	3	212	1	0	0	0	0	1	0	0	0	14668	739	26	4	1796	4	SLC5A5	19	18001785	Missense_Mutation	SNP	C	TCGA-EL-A3GQ-01A-11D-A202-08	3478373	18001785	41127198	19	4455											
GPR174	84636	broad.mit.edu	37	chrX	78426795	78426795	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgcatgttctgtttctacctGaagtatgtcaacatgtatgc	8	8	3	1			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chrX:78426795G>A	ENST00000276077.1	+	1	327	c.291G>A	c.(289-291)ctG>ctA	p.L97L		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	97						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						GTTTCTACCTGAAGTATGTCA	0.448										HNSCC(63;0.18)																												ENST00000276077.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						c.(289-291)ctG>ctA		G protein-coupled receptor 174							152	127	136					X																	78426795		2203	4300	6503	SO:0001819	synonymous_variant	84636					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78426795G>A	AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"GPCR / Class A : Orphans"	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.291G>A	X.37:g.78426795G>A		HNSCC(63;0.18)					p.L97L	NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN			1	327	+			97					Q2M3F7	Silent	SNP	ENST00000276077.1	37	c.291G>A	CCDS14443.1																																																																																				0.448	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057327.1	NM_032553		48	71	0	0	0	0.002852	0	48	71					A	78426795	G	A	78426795	2	1	212	1	0	0	0	0	0	0	0	1	6672	1277	45	2		2	GPR174	23	78426795	Silent	SNP	G	TCGA-EL-A3GQ-01A-11D-A202-08		78426795	76843765	20	4456											
SPTA1	6708	broad.mit.edu	37	chr1	158582606	158582606	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaagcaaccagaatcggaCctgcttcatgtcttctttgg	11	10	3	1			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr1:158582606C>T	ENST00000368147.4	-	51	7315		c.e51+1		SPTA1_ENST00000485680.1_5'Flank	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1						actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGAATCGGACCTGCTTCATG	0.458																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.e51+1		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							132	130	131					1																	158582606		1933	4128	6061	SO:0001630	splice_region_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158582606C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.7134+1G>A	1.37:g.158582606C>T						SPTA1_ENST00000368147.3_Splice_Site		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			51	7315	-	all_hematologic(112;0.0378)							Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Splice_Site	SNP	ENST00000368147.4	37		CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761321	0.69763	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	5.09	4.18	0.49190	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6657	0.56842	0.0:0.9195:0.0:0.0805	.	.	.	.	.	-1	.	.	.	-	.	.	SPTA1	156849230	1.000000	0.71417	0.999000	0.59377	0.921000	0.55340	5.216000	0.65246	1.508000	0.48769	0.655000	0.94253	.		0.458	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	Intron	5	100	0	0	0	0.00307968	0	5	100					T	158582606	C	T	158582606	5	4	213	1	0	0	0	0	0	0	1	0	15115	521	18	2	132	2	SPTA1	1	158582606	Splice_Site	SNP	C	TCGA-EL-A3GR-01A-21D-A202-08		158582606	90668015	1	4457											
STAG1	10274	broad.mit.edu	37	chr3	136162169	136162169	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcttctaatagcaactctgtCatacattcccagtctttcaa	3	12	6	0			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr3:136162169C>G	ENST00000383202.2	-	15	1762	c.1506G>C	c.(1504-1506)atG>atC	p.M502I	STAG1_ENST00000536929.1_Missense_Mutation_p.M86I|STAG1_ENST00000236698.5_Missense_Mutation_p.M502I|STAG1_ENST00000434713.2_Missense_Mutation_p.M276I	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	502					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GCAACTCTGTCATACATTCCC	0.358																																						ENST00000383202.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1504-1506)atG>atC		stromal antigen 1							140	133	135					3																	136162169		2203	4300	6503	SO:0001583	missense	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136162169C>G	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.1506G>C	3.37:g.136162169C>G	ENSP00000372689:p.Met502Ile					STAG1_ENST00000434713.2_Missense_Mutation_p.M276I|STAG1_ENST00000536929.1_Missense_Mutation_p.M86I|STAG1_ENST00000236698.5_Missense_Mutation_p.M502I	p.M502I	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN			15	1762	-			502					O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	37	c.1506G>C	CCDS3090.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.1|24.1	4.488922|4.488922	0.84962|0.84962	.|.	.|.	ENSG00000118007|ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929|ENST00000492318	T;T;T;T|.	0.38077|.	1.7;1.72;1.83;1.16|.	5.83|5.83	5.83|5.83	0.93111|0.93111	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.82866|.	0.5130|.	M|M	0.83312|0.83312	2.635|2.635	0.80722|0.80722	D|D	1|1	P;B;P|.	0.48089|.	0.905;0.382;0.843|.	P;B;P|.	0.52598|.	0.703;0.146;0.613|.	T|.	0.82916|.	-0.0220|.	10|.	0.30078|.	T|.	0.28|.	.|.	20.1133|20.1133	0.97917|0.97917	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	519;502;502|.	Q4LE48;Q6P275;Q8WVM7|.	.;.;STAG1_HUMAN|.	I|S	502;502;276;86|113	ENSP00000372689:M502I;ENSP00000236698:M502I;ENSP00000404396:M276I;ENSP00000445787:M86I|.	ENSP00000236698:M502I|.	M|X	-|-	3|2	0|2	STAG1|STAG1	137644859|137644859	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	2.762000|2.762000	0.94881|0.94881	0.591000|0.591000	0.81541|0.81541	ATG|TGA		0.358	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		7	95	0	0	0	0.00307968	0	7	95					G	136162169	C	G	136162169	3	3	213	1	0	0	0	0	1	0	0	0	15241	826	29	4	2350	4	STAG1	3	136162169	Missense_Mutation	SNP	C	TCGA-EL-A3GR-01A-21D-A202-08		136162169	61860261	2	4458											
THPO	7066	broad.mit.edu	37	chr3	184093689	184093689	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctcaccagtctgctgtgaAggacatgggagtcacgaagc	12	10	3	1			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr3:184093689A>C	ENST00000204615.7	-	3	342	c.128T>G	c.(127-129)cTt>cGt	p.L43R	EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000477594.1_5'Flank|THPO_ENST00000445696.2_Missense_Mutation_p.L43R|THPO_ENST00000421442.2_Missense_Mutation_p.L43R	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	43					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|thrombopoietin-mediated signaling pathway (GO:0038163)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTGCTGTGAAGGACATGGGA	0.527																																						ENST00000204615.7																			0				NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(127-129)cTt>cGt		thrombopoietin							119	115	116					3																	184093689		2203	4300	6503	SO:0001583	missense	7066				cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity	g.chr3:184093689A>C		CCDS3265.1, CCDS54693.1	3q27	2014-01-30	2008-07-31		ENSG00000090534	ENSG00000090534		"Endogenous ligands"	11795	protein-coding gene	gene with protein product	"prepro-thrombopoietin", "megakaryocyte stimulating factor", "myeloproliferative leukemia virus oncogene ligand", "megakaryocyte growth and development factor", "MPL ligand", "megakaryocyte colony-stimulating factor", "c-mpl ligand", "thrombopoietin nirs variant 1"	600044		MGDF		8202154	Standard	XM_006713738		Approved	TPO, MPLLG	uc003fol.1	P40225	OTTHUMG00000156745	ENST00000204615.7:c.128T>G	3.37:g.184093689A>C	ENSP00000204615:p.Leu43Arg					THPO_ENST00000445696.2_Missense_Mutation_p.L43R|EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000421442.2_Missense_Mutation_p.L43R	p.L43R	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		3	342	-	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		43					A1L3Y0|B7ZLR8|B9EGA8|Q13020|Q15790|Q15791|Q15792	Missense_Mutation	SNP	ENST00000204615.7	37	c.128T>G	CCDS3265.1	.	.	.	.	.	.	.	.	.	.	A	17.25	3.342173	0.61073	.	.	ENSG00000090534	ENST00000204615;ENST00000445696;ENST00000421442;ENST00000353488	T;T;T	0.51574	0.7;0.7;0.7	3.86	3.86	0.44501	Erythropoietin/thrombopoeitin, conserved site (1);Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.36482	N	0.002577	T	0.52058	0.1711	L	0.27053	0.805	0.40202	D	0.977528	D;D;D;D;D;D	0.76494	0.999;0.999;0.998;0.997;0.999;0.999	D;D;D;D;D;D	0.91635	0.999;0.996;0.995;0.991;0.996;0.998	T	0.56353	-0.7993	10	0.72032	D	0.01	-27.0972	9.237	0.37473	1.0:0.0:0.0:0.0	.	43;43;43;43;43;43	Q5FBX4;P40225-3;Q5FBX8;F8W6L1;P40225-2;P40225	.;.;.;.;.;TPO_HUMAN	R	43	ENSP00000204615:L43R;ENSP00000410763:L43R;ENSP00000411704:L43R	ENSP00000204615:L43R	L	-	2	0	THPO	185576383	1.000000	0.71417	0.999000	0.59377	0.916000	0.54674	4.188000	0.58351	1.752000	0.51891	0.383000	0.25322	CTT		0.527	THPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345554.1	NM_000460		36	91	0	0	0	0.00195071	0	36	91					C	184093689	A	C	184093689	3	2	213	1	0	0	0	0	1	0	0	0	15869	72	3	5	949	5	THPO	3	184093689	Missense_Mutation	SNP	A	TCGA-EL-A3GR-01A-21D-A202-08	47931520	184093689	13928741	3	4459											
CLCN3	1182	broad.mit.edu	37	chr4	170641066	170641066	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tattcctttcaggcgcctccTtggcattataacaaaaaaag	6	10	1	0			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr4:170641066T>C	ENST00000513761.1	+	13	2934	c.2375T>C	c.(2374-2376)cTt>cCt	p.L792P	CLCN3_ENST00000360642.3_Missense_Mutation_p.L765P|CLCN3_ENST00000504131.2_Missense_Mutation_p.L775P|CLCN3_ENST00000347613.4_Silent_p.P817P	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	792	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		AGGCGCCTCCTTGGCATTATA	0.398																																						ENST00000513761.1																			0				breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29						c.(2374-2376)cTt>cCt		chloride channel, voltage-sensitive 3							42	45	44					4																	170641066		2196	4299	6495	SO:0001583	missense	0				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity	g.chr4:170641066T>C	X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"Ion channels / Chloride channels : Voltage-sensitive"	2021	protein-coding gene	gene with protein product		600580	"chloride channel 3"				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.2375T>C	4.37:g.170641066T>C	ENSP00000424603:p.Leu792Pro					CLCN3_ENST00000360642.3_Missense_Mutation_p.L765P|CLCN3_ENST00000504131.2_Missense_Mutation_p.L775P|CLCN3_ENST00000347613.4_Silent_p.P817P	p.L792P	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)	13	2934	+		Prostate(90;0.00601)|Renal(120;0.0183)	792			CBS 2.		B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	ENST00000513761.1	37	c.2375T>C	CCDS34101.1	.	.	.	.	.	.	.	.	.	.	T	18.99	3.740737	0.69304	.	.	ENSG00000109572	ENST00000513761;ENST00000360642;ENST00000504131	D;D;D	0.94537	-3.45;-3.45;-3.45	5.52	5.52	0.82312	Cystathionine beta-synthase, core (3);	.	.	.	.	D	0.97087	0.9048	.	.	.	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.79784	0.988;0.993;0.991	D	0.97250	0.9897	7	.	.	.	-6.6465	15.6299	0.76899	0.0:0.0:0.0:1.0	.	765;775;792	B7Z932;B9EGJ9;P51790	.;.;CLCN3_HUMAN	P	792;765;775	ENSP00000424603:L792P;ENSP00000353857:L765P;ENSP00000424540:L775P	.	L	+	2	0	CLCN3	170877641	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.036000	0.88901	2.086000	0.62901	0.533000	0.62120	CTT		0.398	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			5	59	0	0	0	0.00198382	0	5	59					C	170641066	T	C	170641066	3	2	213	1	0	0	0	0	1	0	0	0	3464	1609	56	3	2501	3	CLCN3	4	170641066	Missense_Mutation	SNP	T	TCGA-EL-A3GR-01A-21D-A202-08		170641066	20513210	4	4460											
NUDT12	83594	broad.mit.edu	37	chr5	102895751	102895751	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctaaaatgtttaccctttctCaagcagaaattggactatct	5	9	2	1			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr5:102895751C>G	ENST00000230792.2	-	2	295	c.199G>C	c.(199-201)Gag>Cag	p.E67Q	NUDT12_ENST00000507423.1_Intron	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	67					NAD catabolic process (GO:0019677)|NADP catabolic process (GO:0006742)	nucleus (GO:0005634)|peroxisome (GO:0005777)	metal ion binding (GO:0046872)|NAD+ diphosphatase activity (GO:0000210)|NADH pyrophosphatase activity (GO:0035529)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		TACCCTTTCTCAAGCAGAAAT	0.363																																						ENST00000230792.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12						c.(199-201)Gag>Cag		nudix (nucleoside diphosphate linked moiety X)-type motif 12							108	103	104					5																	102895751		2202	4300	6502	SO:0001583	missense	83594					nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity	g.chr5:102895751C>G	AL136592	CCDS4096.1, CCDS75284.1	5q15	2013-01-10			ENSG00000112874	ENSG00000112874		"Nudix motif containing", "Ankyrin repeat domain containing"	18826	protein-coding gene	gene with protein product	"nucleoside diphosphate linked moiety X-type motif 12"	609232				11230166	Standard	XM_005272095		Approved	DKFZP761I172	uc003koi.3	Q9BQG2	OTTHUMG00000128739	ENST00000230792.2:c.199G>C	5.37:g.102895751C>G	ENSP00000230792:p.Glu67Gln					NUDT12_ENST00000507423.1_Intron	p.E67Q	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)	2	295	-		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)	67					B3KUW2|Q8TAL7	Missense_Mutation	SNP	ENST00000230792.2	37	c.199G>C	CCDS4096.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676933	0.47886	.	.	ENSG00000112874	ENST00000230792	T	0.67345	-0.26	5.9	5.9	0.94986	Ankyrin repeat-containing domain (4);	0.278431	0.39210	N	0.001440	T	0.54062	0.1835	N	0.16368	0.405	0.80722	D	1	B	0.24920	0.114	B	0.26416	0.069	T	0.49753	-0.8906	10	0.38643	T	0.18	-4.2576	17.1924	0.86883	0.0:0.8744:0.1256:0.0	.	67	Q9BQG2	NUD12_HUMAN	Q	67	ENSP00000230792:E67Q	ENSP00000230792:E67Q	E	-	1	0	NUDT12	102923650	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.749000	0.55150	2.788000	0.95919	0.650000	0.86243	GAG		0.363	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250650.1	NM_031438		45	94	0	0	0	0.00361006	0	45	94					G	102895751	C	G	102895751	3	3	213	1	0	0	0	0	1	0	0	0	10728	835	29	4	1213	4	NUDT12	5	102895751	Missense_Mutation	SNP	C	TCGA-EL-A3GR-01A-21D-A202-08		102895751	78019509	5	4461											
PCDHGA11	56105	broad.mit.edu	37	chr5	140802135	140802135	+	Frame_Shift_Del	DEL	C	C	-													ctgaatgtggcagatgacaaCgataaccctcccgtttttcc					rs372115955		TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr5:140802135delC	ENST00000398587.2	+	1	1374	c.1341delC	c.(1339-1341)aacfs	p.N447fs	PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Frame_Shift_Del_p.N447fs|PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	447	Cadherin 4. {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)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGATGACAACGATAACCCTC	0.537																																						ENST00000398587.2																			0				breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49						c.(1339-1341)aafs									126	133	131					5																	140802135		2075	4228	6303	SO:0001589	frameshift_variant	0							g.chr5:140802135delC	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"Cadherins / Protocadherins : Clustered"	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.1341delC	5.37:g.140802135delC	ENSP00000381589:p.Asn447fs					PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Frame_Shift_Del_p.N447fs|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron	p.N447fs	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1374	+								B7ZVY8|Q9Y5D8|Q9Y5D9	Frame_Shift_Del	DEL	ENST00000398587.2	37	c.1341delC	CCDS47294.1																																																																																				0.537	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		18	218						18	218	---	---	---	---	-	140802135	C	-	140802135	7	5	213	1	0	1	0	1	0	0	0	0	11552	535	19	0	1343	0	PCDHGA11	5	140802135	Frame_Shift_Del	DEL	C	TCGA-EL-A3GR-01A-21D-A202-08	37906384	140802135	40113125	6	4462											
OR2V2	285659	broad.mit.edu	37	chr5	180582583	180582583	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttctcttcccattctccaTcatcgtggcctcctatgctc	5	17	3	0			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr5:180582583T>C	ENST00000328275.1	+	1	641	c.641T>C	c.(640-642)aTc>aCc	p.I214T		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCATTCTCCATCATCGTGGCC	0.517																																						ENST00000328275.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(640-642)aTc>aCc		olfactory receptor, family 2, subfamily V, member 2							287	273	278					5																	180582583		2203	4300	6503	SO:0001583	missense	285659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180582583T>C	AL161615	CCDS4461.1	5q35.3	2012-08-09			ENSG00000182613	ENSG00000182613		"GPCR / Class A : Olfactory receptors"	15341	protein-coding gene	gene with protein product				OR2V3			Standard	NM_206880		Approved	OST713	uc011dhj.2	Q96R30	OTTHUMG00000130933	ENST00000328275.1:c.641T>C	5.37:g.180582583T>C	ENSP00000332185:p.Ile214Thr						p.I214T	NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	641	+	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	214					Q6IFL6|Q8NGV1	Missense_Mutation	SNP	ENST00000328275.1	37	c.641T>C	CCDS4461.1	.	.	.	.	.	.	.	.	.	.	.	10.50	1.367955	0.24771	.	.	ENSG00000182613	ENST00000328275	T	0.42131	0.98	3.26	3.26	0.37387	GPCR, rhodopsin-like superfamily (1);	0.209202	0.24018	N	0.042309	T	0.43942	0.1270	N	0.25031	0.7	0.09310	N	0.999992	D	0.89917	1.0	D	0.91635	0.999	T	0.12760	-1.0535	10	0.72032	D	0.01	.	5.1792	0.15150	0.0:0.1352:0.0:0.8648	.	214	Q96R30	OR2V2_HUMAN	T	214	ENSP00000332185:I214T	ENSP00000332185:I214T	I	+	2	0	OR2V2	180515189	0.000000	0.05858	0.848000	0.33437	0.351000	0.29236	0.374000	0.20501	1.491000	0.48482	0.254000	0.18369	ATC		0.517	OR2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253529.1			4	241	0	0	0	0.000602214	0	4	241					C	180582583	T	C	180582583	3	2	213	1	0	0	0	0	1	0	0	0	11031	1435	50	3	643	3	OR2V2	5	180582583	Missense_Mutation	SNP	T	TCGA-EL-A3GR-01A-21D-A202-08	39780448	180582583	332677	7	4463											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		37	84	0	0	0	0.000953801	0	37	84					T	140453136	A	T	140453136	3	4	213	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3GR-01A-21D-A202-08		140453136	18685527	8	4464											
ARC	23237	broad.mit.edu	37	chr8	143695032	143695032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggctgggctgcccgtcctCgccggggacccacggctggt	18	15	0	0			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr8:143695032C>T	ENST00000356613.2	-	1	1801	c.601G>A	c.(601-603)Gag>Aag	p.E201K	ARC_ENST00000581404.1_5'Flank	NM_015193.4	NP_056008.1	O60936	NOL3_HUMAN	activity-regulated cytoskeleton-associated protein	0					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				TGCCCGTCCTCGCCGGGGACC	0.726																																						ENST00000356613.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13						c.(601-603)Gag>Aag		activity-regulated cytoskeleton-associated protein							13	15	14					8																	143695032		2175	4266	6441	SO:0001583	missense	23237				endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane		g.chr8:143695032C>T	AF193421	CCDS34950.1	8q24.3	2008-08-01			ENSG00000198576	ENSG00000198576			648	protein-coding gene	gene with protein product		612461				10970730, 17466953	Standard	NM_015193		Approved	KIAA0278, Arg3.1	uc003ywn.2	Q7LC44	OTTHUMG00000134310	ENST00000356613.2:c.601G>A	8.37:g.143695032C>T	ENSP00000349022:p.Glu201Lys						p.E201K	NM_015193.3	NP_056008.1	Q7LC44	ARC_HUMAN			1	1801	-	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)	201			Required for binding DNM2 (By similarity).		B4DFL0|O60937	Missense_Mutation	SNP	ENST00000356613.2	37	c.601G>A	CCDS34950.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114641	0.37339	.	.	ENSG00000198576	ENST00000356613	T	0.35605	1.3	4.56	4.56	0.56223	.	0.125935	0.35585	U	0.003117	T	0.20618	0.0496	N	0.19112	0.55	0.30131	N	0.804773	B	0.32071	0.355	B	0.19148	0.024	T	0.11227	-1.0596	10	0.29301	T	0.29	.	12.2406	0.54540	0.0:0.8282:0.1718:0.0	.	201	Q7LC44	ARC_HUMAN	K	201	ENSP00000349022:E201K	ENSP00000349022:E201K	E	-	1	0	ARC	143692034	0.878000	0.30173	0.900000	0.35374	0.141000	0.21300	2.313000	0.43735	2.075000	0.62263	0.462000	0.41574	GAG		0.726	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259274.2			14	21	0	0	0	0.00400662	0	14	21					T	143695032	C	T	143695032	3	4	213	1	0	0	0	0	1	0	0	0	841	893	31	1	593	1	ARC	8	143695032	Missense_Mutation	SNP	C	TCGA-EL-A3GR-01A-21D-A202-08		143695032	2668990	9	4465											
AASDHPPT	60496	broad.mit.edu	37	chr11	105961348	105961348	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttaccaacaaagaatgggaAacaatcagaagctttaagga	8	6	1	2			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr11:105961348A>G	ENST00000278618.4	+	3	696	c.474A>G	c.(472-474)gaA>gaG	p.E158E	RP11-677I18.3_ENST00000532422.1_RNA	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	158					macromolecule biosynthetic process (GO:0009059)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	holo-[acyl-carrier-protein] synthase activity (GO:0008897)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		AAGAATGGGAAACAATCAGAA	0.303																																						ENST00000278618.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17						c.(472-474)gaA>gaG		aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase							103	118	113					11																	105961348		2201	4297	6498	SO:0001819	synonymous_variant	60496				macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding	g.chr11:105961348A>G	AF302110	CCDS31664.1	11q22	2010-12-09			ENSG00000149313	ENSG00000149313	1.2.1.31		14235	protein-coding gene	gene with protein product		607756				12815048, 11286508	Standard	NM_015423		Approved	LYS5, CGI-80, AASD-PPT	uc001pjc.1	Q9NRN7	OTTHUMG00000166253	ENST00000278618.4:c.474A>G	11.37:g.105961348A>G						RP11-677I18.3_ENST00000532422.1_RNA	p.E158E	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)	3	696	+		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	158					B2R6D1|B4DDW7|Q9C068|Q9P0Q3|Q9UG80|Q9Y389	Silent	SNP	ENST00000278618.4	37	c.474A>G	CCDS31664.1																																																																																				0.303	AASDHPPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388734.1	NM_015423		3	116	0	0	0	6.4e-05	0	3	116					G	105961348	A	G	105961348	2	3	213	1	0	0	0	0	0	0	0	1	23	11	1	3		3	AASDHPPT	11	105961348	Silent	SNP	A	TCGA-EL-A3GR-01A-21D-A202-08		105961348	29045168	10	4466											
C14orf135	64430	broad.mit.edu	37	chr14	60581721	60581721	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aatgttcatcatgtctgctgGaacagctatagcatcatatt	7	8	4	0			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr14:60581721G>C	ENST00000406854.1	+	4	1453	c.899G>C	c.(898-900)gGa>gCa	p.G300A	PCNXL4_ENST00000317623.4_Missense_Mutation_p.G66A|PCNXL4_ENST00000404681.2_Missense_Mutation_p.G300A|PCNXL4_ENST00000406949.1_Missense_Mutation_p.G66A			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	300						integral component of membrane (GO:0016021)											ATGTCTGCTGGAACAGCTATA	0.308																																						ENST00000406854.1																			0											c.(898-900)gGa>gCa		pecanex-like 4 (Drosophila)							78	64	68					14																	60581721		1830	4100	5930	SO:0001583	missense	64430							g.chr14:60581721G>C	AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 135"	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.899G>C	14.37:g.60581721G>C	ENSP00000384801:p.Gly300Ala					PCNXL4_ENST00000317623.4_Missense_Mutation_p.G66A|PCNXL4_ENST00000404681.2_Missense_Mutation_p.G300A|PCNXL4_ENST00000406949.1_Missense_Mutation_p.G66A	p.G300A							4	1453	+								A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	ENST00000406854.1	37	c.899G>C		.	.	.	.	.	.	.	.	.	.	G	1.293	-0.607078	0.03717	.	.	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681	T;T;T;T	0.22743	1.96;1.97;1.94;1.97	5.08	4.17	0.49024	.	.	.	.	.	T	0.15825	0.0381	L	0.52011	1.625	0.80722	D	1	B;P	0.42409	0.386;0.779	B;B	0.35182	0.052;0.197	T	0.04481	-1.0948	9	0.05721	T	0.95	.	14.2012	0.65705	0.0:0.2853:0.7147:0.0	.	300;66	Q63HM2;B5MC47	CN135_HUMAN;.	A	66;300;66;300	ENSP00000317396:G66A;ENSP00000384801:G300A;ENSP00000385201:G66A;ENSP00000385713:G300A	ENSP00000317396:G66A	G	+	2	0	C14orf135	59651474	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.033000	0.57282	1.227000	0.43598	0.462000	0.41574	GGA		0.308	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		11	33	0	0	0	0.00136819	0	11	33					C	60581721	G	C	60581721	3	2	213	1	0	0	0	0	1	0	0	0	1745	1174	41	4	203	4	C14orf135	14	60581721	Missense_Mutation	SNP	G	TCGA-EL-A3GR-01A-21D-A202-08		60581721	46767819	11	4467											
DHX8	1659	broad.mit.edu	37	chr17	41577392	41577392	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gccaaagaaaggcgggaactCaaacaggcccagcgggaagc	14	11	1	1			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr17:41577392C>G	ENST00000262415.3	+	11	1539	c.1467C>G	c.(1465-1467)ctC>ctG	p.L489L	DHX8_ENST00000540306.1_Silent_p.L489L	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	489					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GGCGGGAACTCAAACAGGCCC	0.532																																					NSCLC(56;1548 1661 49258 49987)	ENST00000262415.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(1465-1467)ctC>ctG		DEAH (Asp-Glu-Ala-His) box polypeptide 8							174	182	179					17																	41577392		2203	4300	6503	SO:0001819	synonymous_variant	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41577392C>G	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"DEAH-boxes"	2749	protein-coding gene	gene with protein product		600396	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.1467C>G	17.37:g.41577392C>G						DHX8_ENST00000540306.1_Silent_p.L489L	p.L489L	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	11	1539	+		Breast(137;0.00908)	489						Silent	SNP	ENST00000262415.3	37	c.1467C>G	CCDS11464.1																																																																																				0.532	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			116	194	0	0	0	0.00361006	0	116	194					G	41577392	C	G	41577392	2	3	213	1	0	0	0	0	0	0	0	1	4515	813	29	4		4	DHX8	17	41577392	Silent	SNP	C	TCGA-EL-A3GR-01A-21D-A202-08		41577392	39617818	12	4468											
ATP7A	538	broad.mit.edu	37	chrX	77302017	77302020	+	Frame_Shift_Del	DEL	CACT	CACT	-													ttaccagtgaacctgacaagCactcactcctggtgggagac							TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chrX:77302017_77302020delCACT	ENST00000341514.6	+	23	4608_4611	c.4453_4456delCACT	c.(4453-4458)cactcafs	p.HS1485fs	ATP7A_ENST00000350425.4_Frame_Shift_Del_p.HS488fs|ATP7A_ENST00000343533.5_Frame_Shift_Del_p.HS1407fs	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1485					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ACCTGACAAGCACTCACTCCTGGT	0.451																																						ENST00000341514.6																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						c.(4453-4458)cafs		ATPase, Cu++ transporting, alpha polypeptide																																				SO:0001589	frameshift_variant	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77302017_77302020delCACT	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"ATPases / P-type"	869	protein-coding gene	gene with protein product	"copper pump 1", "copper-transporting ATPase 1"	300011	"Menkes syndrome"	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.4453_4456delCACT	X.37:g.77302021_77302024delCACT	ENSP00000345728:p.His1485fs					ATP7A_ENST00000343533.5_Frame_Shift_Del_p.HS1407fs|ATP7A_ENST00000350425.4_Frame_Shift_Del_p.HS488fs	p.HS1485fs	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN			23	4608_4611	+			1485					B1AT72|O00227|O00745|Q9BYY8	Frame_Shift_Del	DEL	ENST00000341514.6	37	c.4453_4456delCACT	CCDS35339.1																																																																																				0.451	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		123	272						123	272	---	---	---	---	-	77302020	CACT	-	77302017	7	5	213	1	0	1	0	1	0	0	0	0	1190	710	25	0	4539	0	ATP7A	23	77302017	Frame_Shift_Del	DEL	CACT	TCGA-EL-A3GR-01A-21D-A202-08		77302017	77968543	13	4469											
PRPS1	5631	broad.mit.edu	37	chrX	106885605	106885605	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tctttctacagggcttttttGatatcccagtagacaatttg	7	8	2	2			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chrX:106885605G>C	ENST00000372435.4	+	4	537	c.415G>C	c.(415-417)Gat>Cat	p.D139H	PRPS1_ENST00000372418.1_Missense_Mutation_p.D39H|PRPS1_ENST00000543248.1_Missense_Mutation_p.D139H|PRPS1_ENST00000372428.4_Missense_Mutation_p.D72H	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	139					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|hypoxanthine biosynthetic process (GO:0046101)|nervous system development (GO:0007399)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|pyrimidine nucleotide biosynthetic process (GO:0006221)|ribonucleoside monophosphate biosynthetic process (GO:0009156)|small molecule metabolic process (GO:0044281)|urate biosynthetic process (GO:0034418)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						GGGCTTTTTTGATATCCCAGT	0.418																																						ENST00000372435.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						c.(415-417)Gat>Cat		phosphoribosyl pyrophosphate synthetase 1							101	92	95					X																	106885605		2203	4300	6503	SO:0001583	missense	5631				5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chrX:106885605G>C	X15331	CCDS14529.1, CCDS76007.1	Xq22.3	2014-09-17			ENSG00000147224	ENSG00000147224	2.7.6.1		9462	protein-coding gene	gene with protein product	"PRS I", "ribose-phosphate diphosphokinase 1"	311850	"deafness, X-linked 2, perceptive, congenital"	DFN2		1962753, 20021999	Standard	NM_002764		Approved	CMTX5, DFNX1	uc004ene.4	P60891	OTTHUMG00000022167	ENST00000372435.4:c.415G>C	X.37:g.106885605G>C	ENSP00000361512:p.Asp139His					PRPS1_ENST00000372418.1_Missense_Mutation_p.D39H|PRPS1_ENST00000543248.1_Missense_Mutation_p.D139H|PRPS1_ENST00000372428.4_Missense_Mutation_p.D72H	p.D139H	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN			4	537	+			139					B1ALA8|B2R6T7|B4DNL6|D3DUX6|P09329	Missense_Mutation	SNP	ENST00000372435.4	37	c.415G>C	CCDS14529.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774331	0.49786	.	.	ENSG00000147224	ENST00000372435;ENST00000372428;ENST00000543248;ENST00000372418	D;D;D;D	0.92249	-3.0;-3.0;-3.0;-2.74	4.5	4.5	0.54988	Phosphoribosyl pyrophosphate synthetase, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.95730	0.8611	M	0.89353	3.025	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.58130	0.833;0.833	D	0.96368	0.9271	10	0.59425	D	0.04	.	16.0021	0.80301	0.0:0.0:1.0:0.0	.	139;139	Q53FW2;P60891	.;PRPS1_HUMAN	H	139;72;139;39	ENSP00000361512:D139H;ENSP00000361505:D72H;ENSP00000443185:D139H;ENSP00000361495:D39H	ENSP00000361495:D39H	D	+	1	0	PRPS1	106772261	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.357000	0.97099	2.170000	0.68504	0.538000	0.68166	GAT		0.418	PRPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057840.1			32	79	0	0	0	0.0024448	0	32	79					C	106885605	G	C	106885605	3	2	213	1	0	0	0	0	1	0	0	0	12578	1290	45	4	429	4	PRPS1	23	106885605	Missense_Mutation	SNP	G	TCGA-EL-A3GR-01A-21D-A202-08	29583588	106885605	48384955	14	4470											
MAST2	23139	broad.mit.edu	37	chr1	46498015	46498015	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagaagtatggcttcacccTgcgggccattcgcgtctaca	10	13	2	1			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr1:46498015T>C	ENST00000361297.2	+	25	3636	c.3353T>C	c.(3352-3354)cTg>cCg	p.L1118P	MAST2_ENST00000372009.2_Missense_Mutation_p.L1025P	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)					GGCTTCACCCTGCGGGCCATT	0.577																																						ENST00000361297.2																			0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(3352-3354)cTg>cCg		microtubule associated serine/threonine kinase 2							65	72	69					1																	46498015		2187	4298	6485	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.chr1:46498015T>C	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.3353T>C	1.37:g.46498015T>C	ENSP00000354671:p.Leu1118Pro					MAST2_ENST00000372009.2_Missense_Mutation_p.L1025P|MAST2_ENST00000372008.1_Intron	p.L1118P	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN			25	3636	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		1118			PDZ.			Missense_Mutation	SNP	ENST00000361297.2	37	c.3353T>C	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.315153	0.81358	.	.	ENSG00000086015	ENST00000361297;ENST00000372009	T;T	0.54279	0.58;0.58	4.83	4.83	0.62350	PDZ/DHR/GLGF (3);	0.000000	0.64402	D	0.000001	T	0.71888	0.3393	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;0.993	D;D	0.97110	1.0;0.979	T	0.76233	-0.3034	10	0.87932	D	0	-10.1661	14.8573	0.70347	0.0:0.0:0.0:1.0	.	1025;1118	E7ERL6;Q6P0Q8	.;MAST2_HUMAN	P	1118;1025	ENSP00000354671:L1118P;ENSP00000361079:L1025P	ENSP00000354671:L1118P	L	+	2	0	MAST2	46270602	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.825000	0.86693	2.153000	0.67306	0.459000	0.35465	CTG		0.577	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		4	87	0	0	0	0.021553	0	4	87					C	46498015	T	C	46498015	3	2	214	1	0	0	0	0	1	0	0	0	9325	1580	55	3	3451	3	MAST2	1	46498015	Missense_Mutation	SNP	T	TCGA-EL-A3GS-01A-11D-A20C-08		46498015	202752606	1	4471											
BARHL2	343472	broad.mit.edu	37	chr1	91182584	91182584	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaggcgccgtccctacggTatcaatctccgaacagggag	12	12	2	1			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr1:91182584T>C	ENST00000370445.4	-	1	210	c.169A>G	c.(169-171)Acc>Gcc	p.T57A		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	57					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	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)			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		GTCCCTACGGTATCAATCTCC	0.607																																					GBM(199;3561 4100 22440)	ENST00000370445.4																			0				cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(169-171)Acc>Gcc		BarH-like homeobox 2							73	80	78					1																	91182584		2203	4300	6503	SO:0001583	missense	343472					nucleus	sequence-specific DNA binding	g.chr1:91182584T>C	AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"Homeoboxes / ANTP class : NKL subclass"	954	protein-coding gene	gene with protein product		605212	"BarH (Drosophila)-like 2"				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.169A>G	1.37:g.91182584T>C	ENSP00000359474:p.Thr57Ala						p.T57A	NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)	1	210	-		all_lung(203;0.0263)|Lung SC(238;0.128)	57					A0AVP2|Q7Z4N7	Missense_Mutation	SNP	ENST00000370445.4	37	c.169A>G	CCDS730.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.665443	0.88251	.	.	ENSG00000143032	ENST00000370445	D	0.91011	-2.77	5.92	4.78	0.61160	.	0.046970	0.85682	D	0.000000	D	0.88062	0.6336	L	0.27053	0.805	0.51482	D	0.999927	D	0.58970	0.984	D	0.65443	0.935	D	0.89602	0.3835	10	0.59425	D	0.04	.	11.6037	0.51020	0.0:0.0:0.1492:0.8508	.	57	Q9NY43	BARH2_HUMAN	A	57	ENSP00000359474:T57A	ENSP00000359474:T57A	T	-	1	0	BARHL2	90955172	1.000000	0.71417	0.995000	0.50966	0.961000	0.63080	6.970000	0.76099	1.046000	0.40249	0.528000	0.53228	ACC		0.607	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027728.2			3	106	0	0	0	0.009096	0	3	106					C	91182584	T	C	91182584	3	2	214	1	0	0	0	0	1	0	0	0	1314	1638	57	3	1006	3	BARHL2	1	91182584	Missense_Mutation	SNP	T	TCGA-EL-A3GS-01A-11D-A20C-08	44684569	91182584	158068037	2	4472											
HLX	3142	broad.mit.edu	37	chr1	221057861	221057861	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggagtggtgggagcagcGgcggcggcggcaatagtttc	20	8	0	0			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr1:221057861G>A	ENST00000366903.6	+	4	2783	c.1282G>A	c.(1282-1284)Ggc>Agc	p.G428S	HLX_ENST00000549319.1_Missense_Mutation_p.G214S	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	428	Ser-rich.				cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.G431delG(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		tgggagcagcggcggcggcgg	0.642																																						ENST00000366903.6																			1	Deletion - In frame(1)	p.G431delG(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1282-1284)Ggc>Agc		H2.0-like homeobox							25	24	25					1																	221057861		2203	4300	6503	SO:0001583	missense	3142				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:221057861G>A	BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"Homeoboxes / ANTP class : NKL subclass"	4978	protein-coding gene	gene with protein product		142995	"H2.0 (Drosophila)-like homeo box 1", "H2.0-like homeobox 1 (Drosophila)", "H2.0-like homeobox 1"	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.1282G>A	1.37:g.221057861G>A	ENSP00000355870:p.Gly428Ser					HLX_ENST00000549319.1_Missense_Mutation_p.G214S	p.G428S	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN		GBM - Glioblastoma multiforme(131;0.00914)	4	2783	+			428			Ser-rich.		B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	ENST00000366903.6	37	c.1282G>A	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198731	0.38806	.	.	ENSG00000136630	ENST00000366903;ENST00000549319	D;D	0.91996	-2.65;-2.95	2.86	-0.687	0.11320	.	0.951617	0.08586	N	0.923819	T	0.78483	0.4290	N	0.14661	0.345	0.23320	N	0.997912	B	0.10296	0.003	B	0.06405	0.002	T	0.65689	-0.6107	10	0.02654	T	1	.	3.3157	0.07032	0.4133:0.2112:0.3755:0.0	.	428	Q14774	HLX_HUMAN	S	428;214	ENSP00000355870:G428S;ENSP00000449882:G214S	ENSP00000355870:G428S	G	+	1	0	HLX	219124484	0.977000	0.34250	0.038000	0.18304	0.016000	0.09150	1.135000	0.31454	0.081000	0.16988	-0.291000	0.09656	GGC		0.642	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958		3	19	0	0	0	0.004672	0	3	19					A	221057861	G	A	221057861	3	1	214	1	0	0	0	0	1	0	0	0	7216	1116	39	1	1296	1	HLX	1	221057861	Missense_Mutation	SNP	G	TCGA-EL-A3GS-01A-11D-A20C-08	129875277	221057861	28192760	3	4473											
FILIP1L	11259	broad.mit.edu	37	chr3	99567862	99567862	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actagatctccaggttgcacAaagttggcattgggtttagt	11	7	1	1			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr3:99567862A>G	ENST00000354552.3	-	5	3128	c.2658T>C	c.(2656-2658)ttT>ttC	p.F886F	FILIP1L_ENST00000383694.2_Silent_p.F646F|FILIP1L_ENST00000471562.1_Silent_p.F646F|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000331335.5_Silent_p.F886F|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000487087.1_Silent_p.F462F	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	886						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						CAGGTTGCACAAAGTTGGCAT	0.448																																						ENST00000331335.5																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(2656-2658)ttT>ttC		filamin A interacting protein 1-like							186	178	181					3																	99567862		1986	4160	6146	SO:0001819	synonymous_variant	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99567862A>G		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"downregulated in ovarian cancer 1", "GPBP-interacting protein of 130 kDa"	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.2658T>C	3.37:g.99567862A>G						FILIP1L_ENST00000487087.1_Silent_p.F462F|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000354552.3_Silent_p.F886F|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000383694.2_Silent_p.F646F|FILIP1L_ENST00000471562.1_Silent_p.F646F|FILIP1L_ENST00000476723.1_Intron	p.F886F	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN			5	3128	-			886					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Silent	SNP	ENST00000354552.3	37	c.2658T>C	CCDS43117.1																																																																																				0.448	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		9	211	0	0	0	0.105934	0	9	211					G	99567862	A	G	99567862	2	3	214	1	0	0	0	0	0	0	0	1	5895	127	5	3		3	FILIP1L	3	99567862	Silent	SNP	A	TCGA-EL-A3GS-01A-11D-A20C-08		99567862	98454568	4	4474											
ENPEP	2028	broad.mit.edu	37	chr4	111434635	111434635	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgattctttgatgtcttcgcAtccaattattgtgactgtga	8	7	2	4			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr4:111434635A>T	ENST00000265162.5	+	7	1715	c.1373A>T	c.(1372-1374)cAt>cTt	p.H458L	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	458					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		ATGTCTTCGCATCCAATTATT	0.353																																						ENST00000265162.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1372-1374)cAt>cTt		glutamyl aminopeptidase (aminopeptidase A)	L-Glutamic Acid(DB00142)						187	172	177					4																	111434635		2203	4300	6503	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111434635A>T	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"CD molecules"	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.1373A>T	4.37:g.111434635A>T	ENSP00000265162:p.His458Leu					RP11-380D23.1_ENST00000503998.1_RNA	p.H458L	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	7	1715	+		Hepatocellular(203;0.217)	458					Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.1373A>T	CCDS3691.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.1|20.1	3.940413|3.940413	0.73557|0.73557	.|.	.|.	ENSG00000250511|ENSG00000138792	ENST00000503998|ENST00000265162	.|T	.|0.03152	.|4.03	5.3|5.3	5.3|5.3	0.74995|0.74995	.|Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.26774|0.26774	0.0655|0.0655	M|M	0.93763|0.93763	3.455|3.455	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.26503|0.26503	-1.0101|-1.0101	5|10	.|0.87932	.|D	.|0	.|.	15.5235|15.5235	0.75885|0.75885	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|458	.|Q07075	.|AMPE_HUMAN	S|L	111|458	.|ENSP00000265162:H458L	.|ENSP00000265162:H458L	C|H	-|+	1|2	0|0	RP11-380D23.1|ENPEP	111654084|111654084	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.405000|0.405000	0.30901|0.30901	8.910000|8.910000	0.92685|0.92685	2.131000|2.131000	0.65755|0.65755	0.533000|0.533000	0.62120|0.62120	TGC|CAT		0.353	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			63	75	0	0	0	0.048971	0	63	75					T	111434635	A	T	111434635	3	4	214	1	0	0	0	0	1	0	0	0	5128	217	8	5	1399	5	ENPEP	4	111434635	Missense_Mutation	SNP	A	TCGA-EL-A3GS-01A-11D-A20C-08		111434635	79719641	5	4475											
PCDHGC4	56098	broad.mit.edu	37	chr5	140866043	140866043	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgatgctgggaaccctcctCtcagtacccacagaactatt	7	14	1	2			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr5:140866043C>T	ENST00000306593.1	+	1	1303	c.1303C>T	c.(1303-1305)Ctc>Ttc	p.L435F	PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGC5_ENST00000252087.1_5'Flank|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC3_ENST00000308177.3_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	435	Cadherin 4. {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)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACCCTCCTCTCAGTACCCA	0.468																																						ENST00000306593.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42						c.(1303-1305)Ctc>Ttc									75	70	72					5																	140866043		2203	4300	6503	SO:0001583	missense	0							g.chr5:140866043C>T	AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"Cadherins / Protocadherins : Clustered"	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.1303C>T	5.37:g.140866043C>T	ENSP00000306918:p.Leu435Phe					PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron	p.L435F	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1303	+								Q495T2|Q9Y5C3	Missense_Mutation	SNP	ENST00000306593.1	37	c.1303C>T	CCDS4262.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.372782	0.24857	.	.	ENSG00000242419	ENST00000306593	T	0.55760	0.5	5.41	2.7	0.31948	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.73644	0.3613	M	0.88512	2.96	0.32871	D	0.509276	D;D	0.89917	1.0;0.999	D;D	0.81914	0.992;0.995	T	0.79001	-0.1981	9	0.72032	D	0.01	.	10.0561	0.42246	0.0:0.7809:0.0:0.2191	.	435;435	Q9Y5F7-2;Q9Y5F7	.;PCDGL_HUMAN	F	435	ENSP00000306918:L435F	ENSP00000306918:L435F	L	+	1	0	PCDHGC4	140846227	0.409000	0.25368	0.997000	0.53966	0.276000	0.26787	1.355000	0.34068	0.277000	0.22141	-0.444000	0.05651	CTC		0.468	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928		26	46	0	0	0	0.054565	0	26	46					T	140866043	C	T	140866043	3	4	214	1	0	0	0	0	1	0	0	0	11570	913	32	2	1305	2	PCDHGC4	5	140866043	Missense_Mutation	SNP	C	TCGA-EL-A3GS-01A-11D-A20C-08		140866043	40049217	6	4476											
ATP6V0E1	8992	broad.mit.edu	37	chr5	172410879	172410879	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgaccatggcgtatcacggcCtcactgtgcctctcattgtg	10	14	3	0			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr5:172410879C>G	ENST00000519374.1	+	1	120	c.16C>G	c.(16-18)Ctc>Gtc	p.L6V	ATP6V0E1_ENST00000517669.1_Missense_Mutation_p.L6V|ATP6V0E1_ENST00000265093.4_Missense_Mutation_p.L6V|ATP6V0E1_ENST00000519911.1_Missense_Mutation_p.L6V	NM_003945.3	NP_003936.1	O15342	VA0E1_HUMAN	ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1	6					ATP hydrolysis coupled proton transport (GO:0015991)|cell growth (GO:0016049)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|response to amino acid (GO:0043200)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	ATPase activity, coupled to transmembrane movement of ions (GO:0042625)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transporter activity (GO:0005215)			lung(2)	2	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTATCACGGCCTCACTGTGCC	0.612																																						ENST00000519374.1																			0				lung(2)	2						c.(16-18)Ctc>Gtc		ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1							237	211	219					5																	172410879		2203	4300	6503	SO:0001583	missense	8992				ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification	endosome membrane|integral to membrane|membrane fraction|proton-transporting V-type ATPase, V0 domain|vacuole	proton-transporting ATPase activity, rotational mechanism	g.chr5:172410879C>G	Y15286	CCDS4383.1	5q35.2	2010-04-21	2006-10-12	2006-10-12	ENSG00000113732	ENSG00000113732		"ATPases / V-type"	863	protein-coding gene	gene with protein product		603931	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) 9kD", "ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e"	ATP6H, ATP6V0E		9556572, 14970230	Standard	NM_003945		Approved	M9.2	uc003mcd.1	O15342	OTTHUMG00000130518	ENST00000519374.1:c.16C>G	5.37:g.172410879C>G	ENSP00000429690:p.Leu6Val					ATP6V0E1_ENST00000517669.1_Missense_Mutation_p.L6V|ATP6V0E1_ENST00000519911.1_Missense_Mutation_p.L6V|ATP6V0E1_ENST00000265093.4_Missense_Mutation_p.L6V	p.L6V	NM_003945.3	NP_003936.1	O15342	VA0E1_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		1	120	+	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	6					B2R557|D3DQM1|Q6IBE8	Missense_Mutation	SNP	ENST00000519374.1	37	c.16C>G	CCDS4383.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463228	0.63513	.	.	ENSG00000113732	ENST00000519374;ENST00000519911;ENST00000265093;ENST00000517669	.	.	.	5.34	3.48	0.39840	.	0.116521	0.64402	D	0.000011	T	0.34077	0.0885	.	.	.	0.39599	D	0.969709	P	0.36647	0.563	B	0.32022	0.139	T	0.17623	-1.0363	8	0.33141	T	0.24	-7.8537	6.4141	0.21708	0.1481:0.7006:0.0:0.1513	.	6	O15342	VA0E1_HUMAN	V	6	.	ENSP00000265093:L6V	L	+	1	0	ATP6V0E1	172343485	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	1.284000	0.33249	1.478000	0.48253	0.655000	0.94253	CTC		0.612	ATP6V0E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252935.2	NM_003945		7	256	0	0	0	0.069234	0	7	256					G	172410879	C	G	172410879	3	3	214	1	0	0	0	0	1	0	0	0	1175	681	24	4	18	4	ATP6V0E1	5	172410879	Missense_Mutation	SNP	C	TCGA-EL-A3GS-01A-11D-A20C-08	31544836	172410879	8504381	7	4477											
CDC5L	988	broad.mit.edu	37	chr6	44387276	44387276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagagtgacttctcaggtGtaactccacagcgacaagtt	10	9	1	2			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr6:44387276G>A	ENST00000371477.3	+	9	1482	c.1183G>A	c.(1183-1185)Gta>Ata	p.V395I		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	395	Interaction with PPP1R8.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTTCTCAGGTGTAACTCCACA	0.423																																						ENST00000371477.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29						c.(1183-1185)Gta>Ata		cell division cycle 5-like							164	144	151					6																	44387276		2203	4300	6503	SO:0001583	missense	988				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding	g.chr6:44387276G>A	D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"CDC5 (cell division cycle 5, S. pombe, homolog)-like", "CDC5 cell division cycle 5-like (S. pombe)"			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.1183G>A	6.37:g.44387276G>A	ENSP00000360532:p.Val395Ile						p.V395I	NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		9	1482	+	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		395			Interaction with PPP1R8.		Q76N46|Q99974	Missense_Mutation	SNP	ENST00000371477.3	37	c.1183G>A	CCDS4912.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.427395	0.62733	.	.	ENSG00000096401	ENST00000371477	T	0.48522	0.81	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.26268	0.0641	L	0.45581	1.43	0.80722	D	1	B	0.06786	0.001	B	0.15870	0.014	T	0.06023	-1.0850	10	0.23302	T	0.38	-14.375	13.7886	0.63126	0.0734:0.0:0.9266:0.0	.	395	Q99459	CDC5L_HUMAN	I	395	ENSP00000360532:V395I	ENSP00000360532:V395I	V	+	1	0	CDC5L	44495254	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.667000	0.74451	2.609000	0.88269	0.563000	0.77884	GTA		0.423	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1			4	98	0	0	0	0.014758	0	4	98					A	44387276	G	A	44387276	3	1	214	1	0	0	0	0	1	0	0	0	3082	1377	48	2	1217	2	CDC5L	6	44387276	Missense_Mutation	SNP	G	TCGA-EL-A3GS-01A-11D-A20C-08		44387276	126727791	8	4478											
BMP5	653	broad.mit.edu	37	chr6	55739439	55739439	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcataaagagaggtgcagaGgacgcttgttttccaggtga	14	6	0	3			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr6:55739439G>A	ENST00000370830.3	-	1	923	c.225C>T	c.(223-225)tcC>tcT	p.S75S	BMP5_ENST00000446683.2_Silent_p.S75S	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	75					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GAGGTGCAGAGGACGCTTGTT	0.468																																						ENST00000370830.3																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45						c.(223-225)tcC>tcT		bone morphogenetic protein 5							188	171	176					6																	55739439		2203	4300	6503	SO:0001819	synonymous_variant	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55739439G>A		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"Bone morphogenetic proteins", "Endogenous ligands"	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.225C>T	6.37:g.55739439G>A						BMP5_ENST00000446683.2_Silent_p.S75S	p.S75S	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		1	923	-	Lung NSC(77;0.0462)		75					B4E0Y4|Q9H547|Q9NTM5	Silent	SNP	ENST00000370830.3	37	c.225C>T	CCDS4958.1																																																																																				0.468	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			4	123	0	0	0	0.021553	0	4	123					A	55739439	G	A	55739439	2	1	214	1	0	0	0	0	0	0	0	1	1463	987	35	2		2	BMP5	6	55739439	Silent	SNP	G	TCGA-EL-A3GS-01A-11D-A20C-08	11352163	55739439	115375628	9	4479											
PIK3CG	5294	broad.mit.edu	37	chr7	106513029	106513029	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgcccttgccagatttctGctgaagcgtggtttaagagt	12	9	1	3			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr7:106513029G>A	ENST00000359195.3	+	3	2353	c.2043G>A	c.(2041-2043)ctG>ctA	p.L681L	PIK3CG_ENST00000440650.2_Silent_p.L681L|PIK3CG_ENST00000496166.1_Silent_p.L681L	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	681	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCAGATTTCTGCTGAAGCGTG	0.378																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(2041-2043)ctG>ctA		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							195	188	190					7																	106513029		2203	4300	6503	SO:0001819	synonymous_variant	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106513029G>A		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.2043G>A	7.37:g.106513029G>A						PIK3CG_ENST00000440650.2_Silent_p.L681L|PIK3CG_ENST00000496166.1_Silent_p.L681L	p.L681L	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			3	2353	+			681					A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	c.2043G>A	CCDS5739.1																																																																																				0.378	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			10	151	0	0	0	0.020292	0	10	151					A	106513029	G	A	106513029	2	1	214	1	0	0	0	0	0	0	0	1	11916	1306	46	2		2	PIK3CG	7	106513029	Silent	SNP	G	TCGA-EL-A3GS-01A-11D-A20C-08		106513029	52625634	10	4480											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		29	49	0	0	0	0.050027	0	29	49					T	140453136	A	T	140453136	3	4	214	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3GS-01A-11D-A20C-08	33940107	140453136	18685527	11	4481											
SLC39A4	55630	broad.mit.edu	37	chr8	145639747	145639747	+	Frame_Shift_Del	DEL	A	A	-													gacccccctgcagccagtgcAggtcagcagcaggaggccaa							TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr8:145639747delA	ENST00000301305.3	-	6	1153	c.1048delT	c.(1048-1050)tgcfs	p.C350fs	SLC39A4_ENST00000276833.5_Frame_Shift_Del_p.C325fs|SLC39A4_ENST00000531013.1_5'Flank	NM_130849.2	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	350					cellular response to zinc ion starvation (GO:0034224)|cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-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;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CAGCCAGTGCAGGTCAGCAGC	0.657																																						ENST00000276833.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14						c.(973-975)gcfs		solute carrier family 39 (zinc transporter), member 4							37	32	34					8																	145639747		2190	4289	6479	SO:0001589	frameshift_variant	55630					cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity	g.chr8:145639747delA	AK025537	CCDS6424.1, CCDS43782.1	8q24.3	2013-05-22			ENSG00000147804	ENSG00000147804		"Solute carriers"	17129	protein-coding gene	gene with protein product		607059	"acrodermatitis enteropathica, zinc-deficiency type"	AEZ		12801924, 12659941, 14709598	Standard	NM_017767		Approved	ZIP4, AWMS2	uc003zcq.3	Q6P5W5		ENST00000301305.3:c.1048delT	8.37:g.145639747delA	ENSP00000301305:p.Cys350fs					SLC39A4_ENST00000301305.3_Frame_Shift_Del_p.C350fs	p.C325fs	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)		5	1276	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		350					Q7L5S5|Q9H6T8|Q9NXC4	Frame_Shift_Del	DEL	ENST00000301305.3	37	c.973delT	CCDS6424.1																																																																																				0.657	SLC39A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382688.1			2	4						2	4	---	---	---	---	-	145639747	A	-	145639747	7	5	214	1	0	1	0	1	0	0	0	0	14620	188	7	0	923	0	SLC39A4	8	145639747	Frame_Shift_Del	DEL	A	TCGA-EL-A3GS-01A-11D-A20C-08		145639747	724275	12	4482											
FRMPD1	22844	broad.mit.edu	37	chr9	37745690	37745690	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagacagtttcaccagccGtccctccagaggggatcaag	11	13	2	2	rs200892375		TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr9:37745690G>A	ENST00000539465.1	+	16	4254	c.3661G>A	c.(3661-3663)Gtc>Atc	p.V1221I	FRMPD1_ENST00000377765.3_Missense_Mutation_p.V1221I|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1221						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TTCACCAGCCGTCCCTCCAGA	0.527																																						ENST00000539465.1																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(3661-3663)Gtc>Atc		FERM and PDZ domain containing 1		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	79	85	83		3661	-2.5	0.0	9		83	0,8600		0,0,4300	yes	missense	FRMPD1	NM_014907.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	1221/1579	37745690	1,13005	2203	4300	6503	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37745690G>A	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.3661G>A	9.37:g.37745690G>A	ENSP00000444411:p.Val1221Ile					RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.V1221I	p.V1221I			Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	4254	+			1221					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.3661G>A	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	1.116	-0.656603	0.03480	2.27E-4	0.0	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.06768	3.26;3.26	4.67	-2.47	0.06442	.	1.432230	0.03852	N	0.272449	T	0.04003	0.0112	N	0.08118	0	0.09310	N	1	B	0.18461	0.028	B	0.08055	0.003	T	0.39663	-0.9603	10	0.22109	T	0.4	-0.6456	4.699	0.12818	0.0:0.2588:0.2995:0.4417	.	1221	Q5SYB0	FRPD1_HUMAN	I	1221	ENSP00000366995:V1221I;ENSP00000444411:V1221I	ENSP00000366995:V1221I	V	+	1	0	FRMPD1	37735690	0.000000	0.05858	0.001000	0.08648	0.108000	0.19459	-0.656000	0.05342	-0.666000	0.05310	-1.376000	0.01182	GTC		0.527	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		4	124	0	0	0	0.02938	0	4	124					A	37745690	G	A	37745690	3	1	214	1	0	0	0	0	1	0	0	0	6057	1145	40	1	3719	1	FRMPD1	9	37745690	Missense_Mutation	SNP	G	TCGA-EL-A3GS-01A-11D-A20C-08		37745690	103467741	13	4483											
CD44	960	broad.mit.edu	37	chr11	35201882	35201882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccaactccatctgtgcaGcaaacaacacaggggtgtac	8	14	1	0			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr11:35201882G>A	ENST00000428726.2	+	3	418	c.295G>A	c.(295-297)Gca>Aca	p.A99T	CD44_ENST00000263398.6_Missense_Mutation_p.A99T|CD44_ENST00000449691.2_Missense_Mutation_p.A99T|CD44_ENST00000352818.4_Missense_Mutation_p.A99T|CD44_ENST00000433892.2_Missense_Mutation_p.A99T|CD44_ENST00000415148.2_Missense_Mutation_p.A99T|CD44_ENST00000526669.2_Intron|CD44_ENST00000360158.4_Missense_Mutation_p.A99T|CD44_ENST00000437706.2_Missense_Mutation_p.A99T|CD44_ENST00000434472.2_Missense_Mutation_p.A99T|CD44_ENST00000278386.6_Intron|CD44_ENST00000433354.2_Missense_Mutation_p.A99T	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	99	Link. {ECO:0000255|PROSITE- ProRule:PRU00323}.				blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	CATCTGTGCAGCAAACAACAC	0.493																																						ENST00000263398.6																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23						c.(295-297)Gca>Aca		CD44 molecule (Indian blood group)	Hyaluronidase(DB00070)						198	156	170					11																	35201882		2202	4298	6500	SO:0001583	missense	960				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity	g.chr11:35201882G>A	M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"CD molecules", "Blood group antigens", "Proteoglycans / Cell surface : Other"	1681	protein-coding gene	gene with protein product	"hematopoietic cell E- and L-selectin ligand", "chondroitin sulfate proteoglycan 8"	107269	"CD44 antigen (homing function and Indian blood group system)"	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.295G>A	11.37:g.35201882G>A	ENSP00000398632:p.Ala99Thr					CD44_ENST00000449691.2_Missense_Mutation_p.A99T|CD44_ENST00000434472.2_Missense_Mutation_p.A99T|CD44_ENST00000415148.2_Missense_Mutation_p.A99T|CD44_ENST00000352818.4_Missense_Mutation_p.A99T|CD44_ENST00000278386.6_Intron|CD44_ENST00000433892.2_Missense_Mutation_p.A99T|CD44_ENST00000428726.2_Missense_Mutation_p.A99T|CD44_ENST00000526669.2_Intron|CD44_ENST00000437706.2_Missense_Mutation_p.A99T|CD44_ENST00000360158.4_Missense_Mutation_p.A99T|CD44_ENST00000433354.2_Missense_Mutation_p.A99T	p.A99T	NM_001001391.1|NM_001202555.1|NM_001202556.1	NP_001001391.1|NP_001189484.1|NP_001189485.1	P16070	CD44_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		3	729	+	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	99			Link.		A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Missense_Mutation	SNP	ENST00000428726.2	37	c.295G>A	CCDS7897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.11|18.11	3.550884|3.550884	0.65311|0.65311	.|.	.|.	ENSG00000026508|ENSG00000026508	ENST00000263398;ENST00000415148;ENST00000433354;ENST00000449691;ENST00000437706;ENST00000360158;ENST00000428726;ENST00000433892;ENST00000434472;ENST00000352818;ENST00000525211;ENST00000526000;ENST00000279452|ENST00000442151;ENST00000528455	T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.08984|.	3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03|.	5.86|5.86	5.86|5.86	0.93980|0.93980	C-type lectin fold (1);Link (3);C-type lectin-like (1);|.	0.122646|.	0.56097|.	D|.	0.000029|.	T|T	0.63733|0.63733	0.2536|0.2536	L|L	0.48877|0.48877	1.53|1.53	0.51767|0.51767	D|D	0.99993|0.99993	D;D;D;P;P;P|.	0.89917|.	0.998;0.999;1.0;0.923;0.846;0.57|.	D;D;D;P;P;P|.	0.91635|.	0.986;0.996;0.999;0.883;0.644;0.65|.	T|T	0.57545|0.57545	-0.7793|-0.7793	10|5	0.72032|.	D|.	0.01|.	-13.7883|-13.7883	16.0536|16.0536	0.80779|0.80779	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	99;99;99;99;99;99|.	B6EAT9;P16070-11;P16070-12;P16070-10;P16070-4;P16070|.	.;.;.;.;.;CD44_HUMAN|.	T|N	99;99;99;99;99;99;99;99;99;99;78;77;59|98;35	ENSP00000263398:A99T;ENSP00000389830:A99T;ENSP00000414567:A99T;ENSP00000391008:A99T;ENSP00000403990:A99T;ENSP00000353280:A99T;ENSP00000398632:A99T;ENSP00000392331:A99T;ENSP00000404447:A99T;ENSP00000309732:A99T;ENSP00000432405:A78T;ENSP00000434465:A77T;ENSP00000279452:A59T|.	ENSP00000263398:A99T|.	A|S	+|+	1|2	0|0	CD44|CD44	35158458|35158458	0.993000|0.993000	0.37304|0.37304	0.619000|0.619000	0.29118|0.29118	0.058000|0.058000	0.15608|0.15608	4.125000|4.125000	0.57931|0.57931	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GCA|AGC		0.493	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	NM_000610		3	73	0	0	0	0.009096	0	3	73					A	35201882	G	A	35201882	3	1	214	1	0	0	0	0	1	0	0	0	3017	971	34	2	305	2	CD44	11	35201882	Missense_Mutation	SNP	G	TCGA-EL-A3GS-01A-11D-A20C-08		35201882	99804634	14	4484											
DYRK4	8798	broad.mit.edu	37	chr12	4705796	4705796	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggagctgaagatcctggaagCtctcagaaagaaggacaaag	13	7	1	4			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr12:4705796C>G	ENST00000540757.2	+	6	621	c.461C>G	c.(460-462)gCt>gGt	p.A154G	DYRK4_ENST00000010132.5_Missense_Mutation_p.A154G|DYRK4_ENST00000543431.1_Missense_Mutation_p.A154G	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	154	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			ATCCTGGAAGCTCTCAGAAAG	0.498																																						ENST00000540757.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(460-462)gCt>gGt		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4							109	96	100					12																	4705796		2203	4300	6503	SO:0001583	missense	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4705796C>G	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.461C>G	12.37:g.4705796C>G	ENSP00000441755:p.Ala154Gly					DYRK4_ENST00000543431.1_Missense_Mutation_p.A154G|DYRK4_ENST00000010132.5_Missense_Mutation_p.A154G	p.A154G	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		6	621	+			154			Protein kinase.		A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	ENST00000540757.2	37	c.461C>G	CCDS8530.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.495018	0.44352	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.47	5.47	0.80525	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.128805	0.52532	D	0.000076	T	0.65780	0.2724	L	0.37507	1.11	0.80722	D	1	D;P;B	0.55605	0.972;0.573;0.302	P;B;B	0.56398	0.797;0.133;0.21	T	0.66689	-0.5860	10	0.52906	T	0.07	.	13.8644	0.63578	0.1528:0.8472:0.0:0.0	.	269;154;154	F5H6L9;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	G	269;154;154;154	ENSP00000437534:A269G;ENSP00000441755:A154G;ENSP00000010132:A154G;ENSP00000439697:A154G	ENSP00000010132:A154G	A	+	2	0	DYRK4	4576057	0.990000	0.36364	1.000000	0.80357	0.949000	0.60115	2.243000	0.43115	2.570000	0.86706	0.655000	0.94253	GCT		0.498	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2			5	13	0	0	0	0.014758	0	5	13					G	4705796	C	G	4705796	3	3	214	1	0	0	0	0	1	0	0	0	4858	797	28	4	475	4	DYRK4	12	4705796	Missense_Mutation	SNP	C	TCGA-EL-A3GS-01A-11D-A20C-08		4705796	129146099	15	4485											
TCL1B	9623	broad.mit.edu	37	chr14	96157184	96157184	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccgccgtgtggcagctctacCccgggaggaagtaccgagca	14	14	1	0			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr14:96157184C>G	ENST00000340722.7	+	2	325	c.274C>G	c.(274-276)Ccc>Gcc	p.P92A	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	92										cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		GCAGCTCTACCCCGGGAGGAA	0.607																																						ENST00000340722.7																			0				cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(274-276)Ccc>Gcc		T-cell leukemia/lymphoma 1B							67	70	69					14																	96157184		2203	4300	6503	SO:0001583	missense	9623							g.chr14:96157184C>G	AB018563	CCDS32151.1	14q32.1	2008-09-05			ENSG00000213231	ENSG00000213231			11649	protein-coding gene	gene with protein product		603769				10077617	Standard	NM_004918		Approved	TML1	uc001yez.3	O95988	OTTHUMG00000028912	ENST00000340722.7:c.274C>G	14.37:g.96157184C>G	ENSP00000343223:p.Pro92Ala					RP11-1070N10.6_ENST00000461160.1_RNA	p.P92A	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)	2	325	+		all_cancers(154;0.103)	92					A6NEK7|Q6IAR7|Q9UBQ4	Missense_Mutation	SNP	ENST00000340722.7	37	c.274C>G	CCDS32151.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.715416	0.30413	.	.	ENSG00000213231	ENST00000340722;ENST00000538038	T	0.41400	1.0	3.29	-4.9	0.03094	.	.	.	.	.	T	0.38931	0.1059	M	0.77313	2.365	0.09310	N	1	P	0.43169	0.8	B	0.43575	0.424	T	0.26744	-1.0094	9	0.54805	T	0.06	-3.6128	2.0452	0.03559	0.1457:0.1952:0.1438:0.5153	.	92	O95988	TCL1B_HUMAN	A	92	ENSP00000343223:P92A	ENSP00000343223:P92A	P	+	1	0	TCL1B	95226937	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.931000	0.03967	-1.348000	0.02205	-0.379000	0.06801	CCC		0.607	TCL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315123.2			3	100	0	0	0	0.004672	0	3	100					G	96157184	C	G	96157184	3	3	214	1	0	0	0	0	1	0	0	0	15702	623	22	4	280	4	TCL1B	14	96157184	Missense_Mutation	SNP	C	TCGA-EL-A3GS-01A-11D-A20C-08		96157184	11192356	16	4486											
CHST5	23563	broad.mit.edu	37	chr16	75563706	75563706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcacctccttgagcaccaCgtggctgtaggagcggcagg	15	13	0	1			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr16:75563706C>T	ENST00000336257.3	-	3	1971	c.577G>A	c.(577-579)Gtg>Atg	p.V193M	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.V199M	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	193					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)|protein sulfation (GO:0006477)|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)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						TTGAGCACCACGTGGCTGTAG	0.657																																						ENST00000336257.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						c.(577-579)Gtg>Atg		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5							91	98	95					16																	75563706		2198	4298	6496	SO:0001583	missense	23563				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75563706C>T	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"Sulfotransferases, membrane-bound"	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.577G>A	16.37:g.75563706C>T	ENSP00000338783:p.Val193Met					CHST5_ENST00000541075.1_Missense_Mutation_p.V199M|RP11-77K12.7_ENST00000460606.1_3'UTR	p.V193M	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN			3	1971	-			193					B2RV23|Q7LCN3|Q9UBY3	Missense_Mutation	SNP	ENST00000336257.3	37	c.577G>A	CCDS10919.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.438007	0.43326	.	.	ENSG00000135702	ENST00000336257;ENST00000541075	T;T	0.23552	1.9;1.9	2.73	2.73	0.32206	Sulfotransferase domain (1);	0.066398	0.64402	D	0.000012	T	0.40498	0.1119	L	0.60012	1.86	0.41256	D	0.986744	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.19614	-1.0300	10	0.46703	T	0.11	.	6.9039	0.24299	0.0:0.8611:0.0:0.1389	.	199;193	Q9GZS9-2;Q9GZS9	.;CHST5_HUMAN	M	193;199	ENSP00000338783:V193M;ENSP00000441220:V199M	ENSP00000338783:V193M	V	-	1	0	CHST5	74121207	1.000000	0.71417	0.999000	0.59377	0.519000	0.34347	2.231000	0.43009	1.514000	0.48869	0.313000	0.20887	GTG		0.657	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126		63	117	0	0	0	0.048971	0	63	117					T	75563706	C	T	75563706	3	4	214	1	0	0	0	0	1	0	0	0	3407	536	19	1	662	1	CHST5	16	75563706	Missense_Mutation	SNP	C	TCGA-EL-A3GS-01A-11D-A20C-08		75563706	14791047	17	4487											
SDC4	6385	broad.mit.edu	37	chr20	43959044	43959044	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcaaagatgttgctgcccTgcacagtgctggacattgac	10	11	1	2			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr20:43959044T>C	ENST00000372733.3	-	4	446	c.407A>G	c.(406-408)cAg>cGg	p.Q136R	SDC4_ENST00000537976.1_Missense_Mutation_p.Q64R	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN	syndecan 4	136					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stress fiber assembly (GO:0051496)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|costamere (GO:0043034)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				GTTGCTGCCCTGCACAGTGCT	0.527			T	ROS1	NSCLC																																	ENST00000372733.3				Dom	yes		20	20q12	6385	T	syndecan 4			E	ROS1		NSCLC	SDC4/ROS1(7)	0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5						c.(406-408)cAg>cGg		syndecan 4							156	125	135					20																	43959044		2203	4300	6503	SO:0001583	missense	6385					extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity	g.chr20:43959044T>C	X67016, D13292	CCDS13350.1	20q12	2010-03-25	2007-02-15		ENSG00000124145	ENSG00000124145		"Proteoglycans / Cell Surface : Syndecans"	10661	protein-coding gene	gene with protein product	"syndecan proteoglycan 4"	600017	"syndecan 4 (amphiglycan, ryudocan)"			7916598, 1500433	Standard	NM_002999		Approved	SYND4, amphiglycan, ryudocan	uc002xnu.3	P31431	OTTHUMG00000033083	ENST00000372733.3:c.407A>G	20.37:g.43959044T>C	ENSP00000361818:p.Gln136Arg					SDC4_ENST00000537976.1_Missense_Mutation_p.Q64R	p.Q136R	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN			4	446	-		Myeloproliferative disorder(115;0.0122)	136					O00773|Q16833|Q53FN9|Q6FGN3	Missense_Mutation	SNP	ENST00000372733.3	37	c.407A>G	CCDS13350.1	.	.	.	.	.	.	.	.	.	.	T	7.454	0.643344	0.14451	.	.	ENSG00000124145	ENST00000372733;ENST00000537976	T	0.28666	1.6	5.93	5.93	0.95920	.	0.430351	0.26428	N	0.024433	T	0.25827	0.0629	L	0.45228	1.405	0.38248	D	0.941515	B	0.13145	0.007	B	0.12156	0.007	T	0.13308	-1.0514	10	0.10111	T	0.7	-29.7391	14.128	0.65235	0.0:0.0:0.0:1.0	.	136	P31431	SDC4_HUMAN	R	136;64	ENSP00000361818:Q136R	ENSP00000361818:Q136R	Q	-	2	0	SDC4	43392458	0.226000	0.23696	0.521000	0.27850	0.077000	0.17291	1.038000	0.30254	2.265000	0.75225	0.533000	0.62120	CAG		0.527	SDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080515.1	NM_002999		41	66	0	0	0	0.048971	0	41	66					C	43959044	T	C	43959044	3	2	214	1	0	0	0	0	1	0	0	0	13954	1580	55	3	197	3	SDC4	20	43959044	Missense_Mutation	SNP	T	TCGA-EL-A3GS-01A-11D-A20C-08		43959044	19066476	18	4488											
ZNF280C	55609	broad.mit.edu	37	chrX	129354452	129354452	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggcaacgatgaactcctttTttctgtttacagaaaatatt	7	7	1	2			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chrX:129354452T>A	ENST00000370978.4	-	13	1551	c.1398A>T	c.(1396-1398)aaA>aaT	p.K466N		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	466					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(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						GAACTCCTTTTTTCTGTTTAC	0.343																																						ENST00000370978.4																			0				endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1396-1398)aaA>aaT		zinc finger protein 280C							84	78	80					X																	129354452		2203	4300	6503	SO:0001583	missense	55609				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:129354452T>A	AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"suppressor of hairy wing homolog 3 (Drosophila)"	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.1398A>T	X.37:g.129354452T>A	ENSP00000360017:p.Lys466Asn						p.K466N	NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN			13	1551	-			466					A8K2V8|Q9NXR3	Missense_Mutation	SNP	ENST00000370978.4	37	c.1398A>T	CCDS14622.1	.	.	.	.	.	.	.	.	.	.	T	8.519	0.868347	0.17250	.	.	ENSG00000056277	ENST00000066465;ENST00000370978;ENST00000447817	T;T	0.15256	4.18;2.44	3.92	1.27	0.21489	.	.	.	.	.	T	0.13072	0.0317	L	0.60455	1.87	0.31744	N	0.635402	P;B	0.39964	0.697;0.112	B;B	0.34722	0.188;0.188	T	0.18116	-1.0347	9	0.36615	T	0.2	.	3.3302	0.07082	0.0:0.2595:0.2054:0.5351	.	417;466	Q9UJJ2;Q8ND82	.;Z280C_HUMAN	N	417;466;417	ENSP00000360017:K466N;ENSP00000408521:K417N	ENSP00000066465:K417N	K	-	3	2	ZNF280C	129182133	1.000000	0.71417	0.999000	0.59377	0.301000	0.27625	2.824000	0.48088	0.051000	0.15978	0.350000	0.21858	AAA		0.343	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1	NM_017666		25	39	0	0	0	0.041601	0	25	39					A	129354452	T	A	129354452	3	1	214	1	0	0	0	0	1	0	0	0	17813	1838	64	5	843	5	ZNF280C	23	129354452	Missense_Mutation	SNP	T	TCGA-EL-A3GS-01A-11D-A20C-08		129354452	25916108	19	4489											
GRIK3	2899	broad.mit.edu	37	chr1	37356590	37356590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataggtcaaggttgtgttggGcagcagagtcctgttcctgt	14	7	1	1			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr1:37356590G>A	ENST00000373091.3	-	2	239	c.223C>T	c.(223-225)Ccc>Tcc	p.P75S	GRIK3_ENST00000373093.4_Missense_Mutation_p.P75S	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	75					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				GTTGTGTTGGGCAGCAGAGTC	0.527																																						ENST00000373091.3																			0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(223-225)Ccc>Tcc		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						292	233	253					1																	37356590		2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37356590G>A	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.223C>T	1.37:g.37356590G>A	ENSP00000362183:p.Pro75Ser					GRIK3_ENST00000373093.4_Missense_Mutation_p.P75S	p.P75S	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN			2	239	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	75					A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.223C>T	CCDS416.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158943	0.78226	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	D;D	0.85088	-1.94;-1.94	5.63	5.63	0.86233	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.89406	0.6706	M	0.63428	1.95	0.80722	D	1	P;P	0.46656	0.808;0.882	P;P	0.54346	0.532;0.749	D	0.86755	0.1963	10	0.29301	T	0.29	.	19.6818	0.95967	0.0:0.0:1.0:0.0	.	75;75	A9Z1Z8;Q13003	.;GRIK3_HUMAN	S	75	ENSP00000362183:P75S;ENSP00000362185:P75S	ENSP00000362183:P75S	P	-	1	0	GRIK3	37129177	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.860000	0.99555	2.644000	0.89710	0.650000	0.86243	CCC		0.527	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		5	215	0	0	0	1	0	5	215					A	37356590	G	A	37356590	3	1	215	1	0	0	0	0	1	0	0	0	6775	1203	42	2	2596	2	GRIK3	1	37356590	Missense_Mutation	SNP	G	TCGA-EL-A3GU-01A-11D-A21A-08		37356590	211894031	1	4490											
BCL9	607	broad.mit.edu	37	chr1	147084886	147084886	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggtgggagcatggggctgaaGaatggggctggaaatggtgc	21	4	0	2			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr1:147084886G>T	ENST00000234739.3	+	5	998	c.258G>T	c.(256-258)aaG>aaT	p.K86N	BCL9_ENST00000473292.1_Intron	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	86					canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TGGGGCTGAAGAATGGGGCTG	0.592			T	"IGH@, IGL@"	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"IGH@, IGL@"		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(256-258)aaG>aaT		B-cell CLL/lymphoma 9							38	41	40					1																	147084886		2203	4300	6503	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147084886G>T	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.258G>T	1.37:g.147084886G>T	ENSP00000234739:p.Lys86Asn					BCL9_ENST00000473292.1_Intron	p.K86N	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			5	998	+	all_hematologic(923;0.115)		86					Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.258G>T	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535980	0.85812	.	.	ENSG00000116128	ENST00000234739	T	0.71817	-0.6	5.4	5.4	0.78164	.	0.049063	0.85682	D	0.000000	T	0.79393	0.4438	L	0.54323	1.7	0.58432	D	0.999999	D	0.71674	0.998	D	0.78314	0.991	T	0.79895	-0.1610	10	0.72032	D	0.01	-14.6297	19.3659	0.94461	0.0:0.0:1.0:0.0	.	86	O00512	BCL9_HUMAN	N	86	ENSP00000234739:K86N	ENSP00000234739:K86N	K	+	3	2	BCL9	145551510	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.561000	0.53770	2.797000	0.96272	0.655000	0.94253	AAG		0.592	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		20	50	1	0	1.96292e-10	1	1.96292e-10	20	50					T	147084886	G	T	147084886	3	4	215	1	0	0	0	0	1	0	0	0	1381	933	33	4	264	4	BCL9	1	147084886	Missense_Mutation	SNP	G	TCGA-EL-A3GU-01A-11D-A21A-08	109728296	147084886	102165735	2	4491											
NAV1	89796	broad.mit.edu	37	chr1	201779154	201779154	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggctacagcatcagccacgtGaaacgagtgttggatgcaga	13	9	1	2			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr1:201779154G>A	ENST00000367296.4	+	23	4902	c.4482G>A	c.(4480-4482)gtG>gtA	p.V1494V	NAV1_ENST00000367295.1_Silent_p.V1100V|NAV1_ENST00000367297.4_Silent_p.V1486V|NAV1_ENST00000367300.3_Silent_p.V1434V|NAV1_ENST00000367302.1_Silent_p.V1447V|MIR1231_ENST00000408101.1_RNA|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Silent_p.V1491V	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1494					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TCAGCCACGTGAAACGAGTGT	0.517																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(4480-4482)gtG>gtA		neuron navigator 1							122	102	109					1																	201779154		2203	4300	6503	SO:0001819	synonymous_variant	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201779154G>A	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"neuron navigator-1", "pore membrane and/or filament interacting like protein 3"	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.4482G>A	1.37:g.201779154G>A						IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Silent_p.V1100V|NAV1_ENST00000367302.1_Silent_p.V1447V|NAV1_ENST00000295624.6_Silent_p.V1491V|NAV1_ENST00000367297.4_Silent_p.V1486V|NAV1_ENST00000367300.3_Silent_p.V1434V	p.V1494V	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN			23	4902	+			1494					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Silent	SNP	ENST00000367296.4	37	c.4482G>A	CCDS1414.2																																																																																				0.517	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		15	139	0	0	0	1	0	15	139					A	201779154	G	A	201779154	2	1	215	1	0	0	0	0	0	0	0	1	10183	1277	45	2		2	NAV1	1	201779154	Silent	SNP	G	TCGA-EL-A3GU-01A-11D-A21A-08	54694268	201779154	47471467	3	4492											
ACTA1	58	broad.mit.edu	37	chr1	229568532	229568532	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccagttggtgatgatgccGtgctcgatagggtacttcag	13	9	1	2	rs577764297		TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr1:229568532G>A	ENST00000366684.3	-	3	327	c.225C>T	c.(223-225)caC>caT	p.H75H	ACTA1_ENST00000366683.2_Silent_p.H75H	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	75			H -> L (in NEM3). {ECO:0000269|PubMed:15236405}.|H -> R (in NEM3). {ECO:0000269|PubMed:15236405}.		cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				TGATGATGCCGTGCTCGATAG	0.582																																						ENST00000366684.3																			0				endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28						c.(223-225)caC>caT		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)						88	86	86					1																	229568532		2203	4300	6503	SO:0001819	synonymous_variant	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229568532G>A	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"nemaline myopathy type 3"	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.225C>T	1.37:g.229568532G>A						ACTA1_ENST00000366683.2_Silent_p.H75H	p.H75H	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN			3	327	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	75		H -> L (in NEM3).|H -> R (in NEM3).			P02568|P99020|Q5T8M9	Silent	SNP	ENST00000366684.3	37	c.225C>T	CCDS1578.1																																																																																				0.582	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		4	200	0	0	0	1	0	4	200					A	229568532	G	A	229568532	2	1	215	1	0	0	0	0	0	0	0	1	191	1136	40	1		1	ACTA1	1	229568532	Silent	SNP	G	TCGA-EL-A3GU-01A-11D-A21A-08	27789378	229568532	19682089	4	4493											
SDCCAG8	10806	broad.mit.edu	37	chr1	243471455	243471476	+	Frame_Shift_Del	DEL	TGCAGACCATCGAAAGACTGGT	TGCAGACCATCGAAAGACTGGT	-													aacccatactaatgttcataTgcagaccatcgaaagactgg					rs534097517|rs555358582|rs371251483|rs200447734|rs149359674|rs976529	byFrequency	TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr1:243471455_243471476delTGCAGACCATCGAAAGACTGGT	ENST00000366541.3	+	8	1023_1044	c.905_926delTGCAGACCATCGAAAGACTGGT	c.(904-927)atgcagaccatcgaaagactggttfs	p.MQTIERLV302fs	SDCCAG8_ENST00000391846.1_Frame_Shift_Del_p.MQTIERLV302fs|SDCCAG8_ENST00000343783.6_Frame_Shift_Del_p.MQTIERLV157fs|SDCCAG8_ENST00000355875.4_Frame_Shift_Del_p.MQTIERLV259fs	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	302	Sufficient for homodimerization. {ECO:0000250}.				establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)		p.R307R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		AATGTTCATATGCAGACCATCGAAAGACTGGTTAAGTAAGTA	0.423																																						ENST00000366541.3																			1	Substitution - coding silent(1)	p.R307R(1)	large_intestine(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(904-927)atfs		serologically defined colon cancer antigen 8																																				SO:0001589	frameshift_variant	10806				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	g.chr1:243471455_243471476delTGCAGACCATCGAAAGACTGGT	AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.905_926delTGCAGACCATCGAAAGACTGGT	1.37:g.243471455_243471476delTGCAGACCATCGAAAGACTGGT	ENSP00000355499:p.Met302fs					SDCCAG8_ENST00000355875.4_Frame_Shift_Del_p.MQTIERLV259fs|SDCCAG8_ENST00000343783.6_Frame_Shift_Del_p.MQTIERLV157fs|SDCCAG8_ENST00000391846.1_Frame_Shift_Del_p.MQTIERLV302fs	p.MQTIERLV302fs	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)	8	1023_1044	+	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	302			Sufficient for homodimerization (By similarity).		O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Frame_Shift_Del	DEL	ENST00000366541.3	37	c.905_926delTGCAGACCATCGAAAGACTGGT	CCDS31075.1																																																																																				0.423	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	NM_006642		22	197						22	197	---	---	---	---	-	243471476	TGCAGACCATCGAAAGACTGGT	-	243471455	7	5	215	1	0	1	0	1	0	0	0	0	13959	1464	51	0	935	0	SDCCAG8	1	243471455	Frame_Shift_Del	DEL	TGCAGACCATCGAAAGACTGGT	TCGA-EL-A3GU-01A-11D-A21A-08	13902923	243471455	5779166	5	4494											
CNRIP1	25927	broad.mit.edu	37	chr2	68544345	68544345	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttcgttggggtcacaccttCtgtgtcatatgtacccgtat	9	11	3	0	rs34128476	byFrequency	TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr2:68544345C>T	ENST00000263655.3	-	2	879	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	CNRIP1_ENST00000409559.3_Missense_Mutation_p.E92K|CNRIP1_ENST00000409862.1_Missense_Mutation_p.E92K|CNRIP1_ENST00000481714.1_5'UTR	NM_015463.2	NP_056278.1	Q96F85	CNRP1_HUMAN	cannabinoid receptor interacting protein 1	92										kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						GTCACACCTTCTGTGTCATAT	0.493																																						ENST00000263655.3																			0				kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						c.(274-276)Gaa>Aaa		cannabinoid receptor interacting protein 1							180	151	161					2																	68544345		2203	4300	6503	SO:0001583	missense	25927						protein binding	g.chr2:68544345C>T	AL110235	CCDS1886.1, CCDS46311.1	2p13	2008-02-05	2007-11-29	2007-11-29	ENSG00000119865	ENSG00000119865			24546	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 32"	C2orf32		12477932	Standard	NM_015463		Approved	DKFZP566K1924, CRIP1, CRIP1a, CRIP1b	uc002sek.4	Q96F85	OTTHUMG00000129565	ENST00000263655.3:c.274G>A	2.37:g.68544345C>T	ENSP00000263655:p.Glu92Lys					CNRIP1_ENST00000409559.3_Missense_Mutation_p.E92K|CNRIP1_ENST00000481714.1_5'UTR|CNRIP1_ENST00000409862.1_Missense_Mutation_p.E92K	p.E92K	NM_015463.2	NP_056278.1	Q96F85	CNRP1_HUMAN			2	879	-			92					B2R4D0|Q49AN4|Q9UFZ0	Missense_Mutation	SNP	ENST00000263655.3	37	c.274G>A	CCDS1886.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.738571	0.89573	.	.	ENSG00000119865	ENST00000409559;ENST00000263655;ENST00000409862	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.68952	0.3057	L	0.43152	1.355	0.80722	D	1	D;D;D	0.89917	1.0;0.994;0.998	D;P;D	0.85130	0.997;0.879;0.994	T	0.64647	-0.6358	9	0.32370	T	0.25	-0.2662	17.0178	0.86424	0.0:1.0:0.0:0.0	.	92;92;92	B8ZZB8;Q96F85;Q96F85-2	.;CNRP1_HUMAN;.	K	92	.	ENSP00000263655:E92K	E	-	1	0	CNRIP1	68397849	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.049000	0.76613	2.697000	0.92050	0.555000	0.69702	GAA		0.493	CNRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251758.1	NM_015463		38	72	0	0	0	1	0	38	72					T	68544345	C	T	68544345	3	4	215	1	0	0	0	0	1	0	0	0	3633	922	32	2	289	2	CNRIP1	2	68544345	Missense_Mutation	SNP	C	TCGA-EL-A3GU-01A-11D-A21A-08		68544345	174655028	6	4495											
TTL	150465	broad.mit.edu	37	chr2	113251935	113251935	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caacgtttggattgcaaagtCatcagccggtgccaaaggtg	12	9	2	0			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr2:113251935C>T	ENST00000233336.6	+	3	643	c.452C>T	c.(451-453)tCa>tTa	p.S151L		NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	151	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)|microtubule cytoskeleton organization (GO:0000226)|regulation of axon extension (GO:0030516)		ATP binding (GO:0005524)|tubulin-tyrosine ligase activity (GO:0004835)			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		ATTGCAAAGTCATCAGCCGGT	0.428			T	ETV6	ALL																																	ENST00000233336.5				Dom	yes		2	2q13	150465	T	tubulin tyrosine ligase			L	ETV6		ALL		0				breast(1)|large_intestine(2)|ovary(1)	4						c.(451-453)tCa>tTa		tubulin tyrosine ligase							58	56	57					2																	113251935		2203	4300	6503	SO:0001583	missense	150465				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr2:113251935C>T		CCDS2096.1	2q13	2010-04-21			ENSG00000114999	ENSG00000114999	6.3.2.25		21586	protein-coding gene	gene with protein product		608291				11431336	Standard	NM_153712		Approved	MGC46235	uc002thu.3	Q8NG68	OTTHUMG00000131316	ENST00000233336.6:c.452C>T	2.37:g.113251935C>T	ENSP00000233336:p.Ser151Leu						p.S151L	NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)	3	643	+		Ovarian(717;0.024)	151			TTL.		Q585T3|Q7Z302|Q8N426	Missense_Mutation	SNP	ENST00000233336.6	37	c.452C>T	CCDS2096.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053638	0.93793	.	.	ENSG00000114999	ENST00000233336	T	0.06371	3.31	5.56	5.56	0.83823	.	0.054774	0.85682	D	0.000000	T	0.17577	0.0422	L	0.37630	1.12	0.80722	D	1	D	0.69078	0.997	D	0.65773	0.938	T	0.00134	-1.2008	10	0.87932	D	0	.	18.6492	0.91423	0.0:1.0:0.0:0.0	.	151	Q8NG68	TTL_HUMAN	L	151	ENSP00000233336:S151L	ENSP00000233336:S151L	S	+	2	0	TTL	112968406	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.553000	0.82203	2.779000	0.95612	0.561000	0.74099	TCA		0.428	TTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254085.2	NM_153712		16	35	0	0	0	1	0	16	35					T	113251935	C	T	113251935	3	4	215	1	0	0	0	0	1	0	0	0	16718	838	29	2	462	2	TTL	2	113251935	Missense_Mutation	SNP	C	TCGA-EL-A3GU-01A-11D-A21A-08	44707590	113251935	129947438	7	4496											
SETD5	55209	broad.mit.edu	37	chr3	9517666	9517666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcctccagggtatctgCggtttccaattcacagcact	9	14	2	0			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr3:9517666C>T	ENST00000406341.1	+	22	4410	c.4220C>T	c.(4219-4221)gCg>gTg	p.A1407V	SETD5_ENST00000302463.6_Missense_Mutation_p.A1309V|SETD5_ENST00000402198.1_Missense_Mutation_p.A1407V|SETD5_ENST00000407969.1_Missense_Mutation_p.A1426V|SETD5_ENST00000402466.1_Missense_Mutation_p.A1309V			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1407	Ser-rich.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGGGTATCTGCGGTTTCCAAT	0.567																																						ENST00000402466.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3925-3927)gCg>gTg		SET domain containing 5							60	58	59					3																	9517666		1990	4175	6165	SO:0001583	missense	55209							g.chr3:9517666C>T	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.4220C>T	3.37:g.9517666C>T	ENSP00000383939:p.Ala1407Val					SETD5_ENST00000406341.1_Missense_Mutation_p.A1407V|SETD5_ENST00000302463.6_Missense_Mutation_p.A1309V|SETD5_ENST00000407969.1_Missense_Mutation_p.A1426V|SETD5_ENST00000402198.1_Missense_Mutation_p.A1407V	p.A1309V			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	24	4694	+	Medulloblastoma(99;0.227)		1407			Ser-rich.		Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.3926C>T	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.253260	0.39797	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	D;D;D;D;D	0.93488	-2.89;-3.23;-2.89;-2.87;-3.23	5.17	5.17	0.71159	.	0.165152	0.41605	D	0.000853	D	0.84862	0.5566	N	0.14661	0.345	0.34471	D	0.702794	B;B;B	0.31817	0.341;0.03;0.014	B;B;B	0.19148	0.024;0.012;0.005	D	0.87431	0.2388	10	0.39692	T	0.17	-7.2705	12.8703	0.57960	0.0:0.9147:0.0:0.0853	.	1076;1309;1407	B3KXG4;Q9C0A6-3;Q9C0A6	.;.;SETD5_HUMAN	V	1407;1309;1407;1426;1309	ENSP00000385852:A1407V;ENSP00000384429:A1309V;ENSP00000383939:A1407V;ENSP00000384114:A1426V;ENSP00000302028:A1309V	ENSP00000302028:A1309V	A	+	2	0	SETD5	9492666	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	3.293000	0.51779	2.558000	0.86282	0.467000	0.42956	GCG		0.567	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		15	40	0	0	0	1	0	15	40					T	9517666	C	T	9517666	3	4	215	1	0	0	0	0	1	0	0	0	14134	768	27	1	4302	1	SETD5	3	9517666	Missense_Mutation	SNP	C	TCGA-EL-A3GU-01A-11D-A21A-08		9517666	188504764	8	4497											
LMLN	89782	broad.mit.edu	37	chr3	197746190	197746190	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagctaacttgcagacaGgaccagagagcagttgccgt	12	11	0	2			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr3:197746190G>A	ENST00000330198.4	+	12	1321	c.1299G>A	c.(1297-1299)caG>caA	p.Q433Q	LMLN_ENST00000482695.1_Silent_p.Q418Q|LMLN_ENST00000420910.2_Silent_p.Q470Q|LMLN_ENST00000332636.5_Silent_p.Q381Q	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	433					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		CTTGCAGACAGGACCAGAGAG	0.488																																						ENST00000330198.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1297-1299)caG>caA		leishmanolysin-like (metallopeptidase M8 family)							150	134	140					3																	197746190		2203	4300	6503	SO:0001819	synonymous_variant	89782				cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	g.chr3:197746190G>A	AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.1299G>A	3.37:g.197746190G>A						LMLN_ENST00000482695.1_Silent_p.Q418Q|LMLN_ENST00000420910.2_Silent_p.Q470Q|LMLN_ENST00000332636.5_Silent_p.Q381Q	p.Q433Q	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)	12	1321	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	433					B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Silent	SNP	ENST00000330198.4	37	c.1299G>A	CCDS3332.1																																																																																				0.488	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029		3	105	0	0	0	1	0	3	105					A	197746190	G	A	197746190	2	1	215	1	0	0	0	0	0	0	0	1	8847	991	35	2		2	LMLN	3	197746190	Silent	SNP	G	TCGA-EL-A3GU-01A-11D-A21A-08	188228524	197746190	276240	9	4498											
ZBTB49	166793	broad.mit.edu	37	chr4	4322849	4322849	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggacaccccagccggtggcGaaccactgcaggccgatggc	14	15	0	0			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr4:4322849G>A	ENST00000337872.4	+	8	2225	c.2104G>A	c.(2104-2106)Gaa>Aaa	p.E702K	RP11-265O12.1_ENST00000509015.1_lincRNA|ZBTB49_ENST00000538529.1_Missense_Mutation_p.E185K|ZBTB49_ENST00000355834.3_Missense_Mutation_p.E580K	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	702					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(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						AGCCGGTGGCGAACCACTGCA	0.602																																						ENST00000337872.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						c.(2104-2106)Gaa>Aaa		zinc finger and BTB domain containing 49							55	52	53					4																	4322849		2203	4300	6503	SO:0001583	missense	166793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:4322849G>A	AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	19883	protein-coding gene	gene with protein product			"zinc finger protein 509"	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.2104G>A	4.37:g.4322849G>A	ENSP00000338807:p.Glu702Lys					ZBTB49_ENST00000538529.1_Missense_Mutation_p.E185K|ZBTB49_ENST00000355834.3_Missense_Mutation_p.E580K	p.E702K	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN			8	2225	+			702					Q59FJ4|Q5EBN0|Q8TB80	Missense_Mutation	SNP	ENST00000337872.4	37	c.2104G>A	CCDS3375.1	.	.	.	.	.	.	.	.	.	.	G	9.802	1.180719	0.21787	.	.	ENSG00000168826	ENST00000355834;ENST00000337872;ENST00000538529	T;T;T	0.14766	2.48;2.86;3.17	4.6	1.74	0.24563	.	0.429787	0.19133	N	0.121881	T	0.09818	0.0241	L	0.58101	1.795	0.09310	N	1	P;P	0.46859	0.885;0.739	B;B	0.31101	0.124;0.091	T	0.36335	-0.9752	10	0.02654	T	1	.	15.5341	0.75990	0.0:0.4146:0.5854:0.0	.	580;702	Q6ZSB9-2;Q6ZSB9	.;ZBT49_HUMAN	K	580;702;185	ENSP00000348091:E580K;ENSP00000338807:E702K;ENSP00000445653:E185K	ENSP00000338807:E702K	E	+	1	0	ZBTB49	4373750	0.596000	0.26866	0.013000	0.15412	0.038000	0.13279	2.125000	0.42016	0.088000	0.17205	0.557000	0.71058	GAA		0.602	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3	NM_145291		3	68	0	0	0	1	0	3	68					A	4322849	G	A	4322849	3	1	215	1	0	0	0	0	1	0	0	0	17547	1059	37	1	2130	1	ZBTB49	4	4322849	Missense_Mutation	SNP	G	TCGA-EL-A3GU-01A-11D-A21A-08		4322849	186831427	10	4499											
PDZD2	23037	broad.mit.edu	37	chr5	32089285	32089285	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgctgtgaaggctggggggAcggaccacaggaaacccttg	16	9	0	1			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr5:32089285A>G	ENST00000438447.1	+	20	6119	c.5731A>G	c.(5731-5733)Acg>Gcg	p.T1911A	PDZD2_ENST00000282493.3_Missense_Mutation_p.T1911A			O15018	PDZD2_HUMAN	PDZ domain containing 2	1911					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGCTGGGGGGACGGACCACAG	0.582																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(5731-5733)Acg>Gcg		PDZ domain containing 2							87	91	90					5																	32089285		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32089285A>G	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.5731A>G	5.37:g.32089285A>G	ENSP00000402033:p.Thr1911Ala					PDZD2_ENST00000282493.3_Missense_Mutation_p.T1911A	p.T1911A			O15018	PDZD2_HUMAN			20	6119	+			1911					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.5731A>G	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	A	11.93	1.786466	0.31593	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.06849	3.25;3.25	5.42	-10.8	0.00216	.	2.256200	0.01793	N	0.032409	T	0.04679	0.0127	L	0.33485	1.01	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31752	-0.9932	10	0.07990	T	0.79	.	6.2753	0.20977	0.1704:0.2236:0.5047:0.1013	.	1911	O15018	PDZD2_HUMAN	A	1911;1712;1911	ENSP00000402033:T1911A;ENSP00000282493:T1911A	ENSP00000282493:T1911A	T	+	1	0	PDZD2	32125042	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-2.385000	0.01062	-2.381000	0.00594	-0.331000	0.08364	ACG		0.582	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			3	154	0	0	0	1	0	3	154					G	32089285	A	G	32089285	3	3	215	1	0	0	0	0	1	0	0	0	11701	275	10	3	5805	3	PDZD2	5	32089285	Missense_Mutation	SNP	A	TCGA-EL-A3GU-01A-11D-A21A-08		32089285	148825975	11	4500											
ALDH5A1	7915	broad.mit.edu	37	chr6	24505158	24505158	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccctggcagccggctgtaCtgtcgtggtgaagcctgccg	15	14	0	1			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr6:24505158C>T	ENST00000357578.3	+	4	816	c.671C>T	c.(670-672)aCt>aTt	p.T224I	ALDH5A1_ENST00000546278.1_Missense_Mutation_p.T136I|ALDH5A1_ENST00000348925.2_Missense_Mutation_p.T224I|ALDH5A1_ENST00000491546.1_Missense_Mutation_p.T196I	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	224					acetate metabolic process (GO:0006083)|central nervous system development (GO:0007417)|galactosylceramide metabolic process (GO:0006681)|gamma-aminobutyric acid catabolic process (GO:0009450)|glucose metabolic process (GO:0006006)|glucosylceramide metabolic process (GO:0006678)|glutamate metabolic process (GO:0006536)|glutamine metabolic process (GO:0006541)|glutathione metabolic process (GO:0006749)|glycerophospholipid metabolic process (GO:0006650)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|respiratory electron transport chain (GO:0022904)|short-chain fatty acid metabolic process (GO:0046459)|succinate metabolic process (GO:0006105)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	protein homodimerization activity (GO:0042803)|succinate-semialdehyde dehydrogenase (NAD+) activity (GO:0004777)|succinate-semialdehyde dehydrogenase [NAD(P)+] activity (GO:0009013)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313)	GCCGGCTGTACTGTCGTGGTG	0.592																																						ENST00000357578.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20						c.(670-672)aCt>aTt		aldehyde dehydrogenase 5 family, member A1	Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)						74	77	76					6																	24505158		2203	4300	6503	SO:0001583	missense	7915				acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity	g.chr6:24505158C>T	L34820	CCDS4555.1, CCDS4556.1	6p22	2013-06-03	2008-07-31		ENSG00000112294	ENSG00000112294	1.2.1.24	"Aldehyde dehydrogenases"	408	protein-coding gene	gene with protein product	"succinate-semialdehyde dehydrogenase"	610045				7814412, 9059628	Standard	NM_001080		Approved	SSADH, SSDH	uc003nef.3	P51649	OTTHUMG00000014356	ENST00000357578.3:c.671C>T	6.37:g.24505158C>T	ENSP00000350191:p.Thr224Ile					ALDH5A1_ENST00000546278.1_Missense_Mutation_p.T136I|ALDH5A1_ENST00000491546.1_Missense_Mutation_p.T196I|ALDH5A1_ENST00000348925.2_Missense_Mutation_p.T224I	p.T224I	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN			4	816	+			224					B2RD26|G5E949|Q546H9|Q8N3W6	Missense_Mutation	SNP	ENST00000357578.3	37	c.671C>T	CCDS4555.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.222635	0.39300	.	.	ENSG00000112294	ENST00000357578;ENST00000546278;ENST00000491546;ENST00000348925	T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3	4.84	3.96	0.45880	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.052048	0.85682	D	0.000000	D	0.86176	0.5870	H	0.97023	3.925	0.80722	D	1	P;P	0.36959	0.575;0.52	B;B	0.42625	0.393;0.273	D	0.89884	0.4032	10	0.87932	D	0	-13.9473	15.5697	0.76323	0.0:0.8616:0.1384:0.0	.	224;224	P51649;G5E949	SSDH_HUMAN;.	I	224;136;196;224	ENSP00000350191:T224I;ENSP00000438193:T136I;ENSP00000417687:T196I;ENSP00000314649:T224I	ENSP00000314649:T224I	T	+	2	0	ALDH5A1	24613137	1.000000	0.71417	0.881000	0.34555	0.081000	0.17604	5.590000	0.67530	1.389000	0.46526	0.655000	0.94253	ACT		0.592	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040007.2			79	102	0	0	0	1	0	79	102					T	24505158	C	T	24505158	3	4	215	1	0	0	0	0	1	0	0	0	502	565	20	2	685	2	ALDH5A1	6	24505158	Missense_Mutation	SNP	C	TCGA-EL-A3GU-01A-11D-A21A-08		24505158	146609909	12	4501											
CALCR	799	broad.mit.edu	37	chr7	93055811	93055811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgcagcagcggctgcagCgcgagcagagcggttggagg	18	12	0	1			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr7:93055811C>T	ENST00000394441.1	-	13	1597	c.1282G>A	c.(1282-1284)Gct>Act	p.A428T	CALCR_ENST00000426151.1_Missense_Mutation_p.A428T|CALCR_ENST00000421592.1_Missense_Mutation_p.A444T|CALCR_ENST00000360249.4_Missense_Mutation_p.A444T|CALCR_ENST00000359558.2_Missense_Mutation_p.A462T	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	462					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	GCGGCTGCAGCGCGAGCAGAG	0.592																																						ENST00000359558.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45						c.(1384-1386)Gct>Act		calcitonin receptor	Salmon Calcitonin(DB00017)						76	80	79					7																	93055811		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	g.chr7:93055811C>T	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"GPCR / Class B : Calcitonin receptors"	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.1282G>A	7.37:g.93055811C>T	ENSP00000377959:p.Ala428Thr					CALCR_ENST00000360249.4_Missense_Mutation_p.A444T|CALCR_ENST00000426151.1_Missense_Mutation_p.A428T|CALCR_ENST00000421592.1_Missense_Mutation_p.A444T|CALCR_ENST00000394441.1_Missense_Mutation_p.A428T	p.A462T	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		16	1683	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		444					A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.1384G>A	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.395071	0.25205	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000394441;ENST00000426151	T;T;T;T;T	0.47869	0.83;0.84;0.84;0.95;0.95	5.11	-4.51	0.03483	.	.	.	.	.	T	0.25195	0.0612	N	0.25647	0.755	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.15484	0.013;0.001	T	0.19844	-1.0293	9	0.24483	T	0.36	.	2.2517	0.04045	0.1137:0.171:0.2612:0.4541	.	462;428	F5H605;A4D1G6	.;.	T	462;444;444;428;428	ENSP00000352561:A462T;ENSP00000353385:A444T;ENSP00000399552:A444T;ENSP00000377959:A428T;ENSP00000389295:A428T	ENSP00000352561:A462T	A	-	1	0	CALCR	92893747	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.303000	0.19210	-0.671000	0.05274	-0.909000	0.02823	GCT		0.592	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		46	88	0	0	0	1	0	46	88					T	93055811	C	T	93055811	3	4	215	1	0	0	0	0	1	0	0	0	2579	768	27	1	146	1	CALCR	7	93055811	Missense_Mutation	SNP	C	TCGA-EL-A3GU-01A-11D-A21A-08		93055811	66082852	13	4502											
LMTK2	22853	broad.mit.edu	37	chr7	97736519	97736521	+	In_Frame_Del	DEL	GCT	GCT	-													ccgccggcgttgcggcggagGctgctgctgctgctgctggt					rs548021046	byFrequency	TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr7:97736519_97736521delGCT	ENST00000297293.5	+	1	323_325	c.30_32delGCT	c.(28-33)aggctg>agg	p.L16del		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	16					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TGCGGCGGAGGCTGCTGCTGCTG	0.764																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(28-33)agg>ag		lemur tyrosine kinase 2				31,1377		8,15,681						-3.5	0.1		dbSNP_134	2	92,3378		12,68,1655	no	coding	LMTK2	NM_014916.3		20,83,2336	A1A1,A1R,RR		2.6513,2.2017,2.5215				123,4755				SO:0001651	inframe_deletion	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97736519_97736521delGCT	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.30_32delGCT	7.37:g.97736528_97736530delGCT	ENSP00000297293:p.Leu16del						p.RL10del	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			1	323_325	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		10					A4D272|Q75MG7|Q9UPS3	In_Frame_Del	DEL	ENST00000297293.5	37	c.30_32delGCT	CCDS5654.1																																																																																				0.764	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		2	4						2	4	---	---	---	---	-	97736521	GCT	-	97736519	7	5	215	1	0	1	0	1	0	0	0	0	8859	1194	42	0	32	0	LMTK2	7	97736519	In_Frame_Del	DEL	GCT	TCGA-EL-A3GU-01A-11D-A21A-08	4680708	97736519	61402144	14	4503											
PTCD1	26024	broad.mit.edu	37	chr7	99032605	99032607	+	In_Frame_Del	DEL	CTC	CTC	-													tcagagagggtcccaaaactCtcctcctcctcctcgtcttc							TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr7:99032605_99032607delCTC	ENST00000292478.4	-	2	509_511	c.259_261delGAG	c.(259-261)gagdel	p.E87del	PTCD1_ENST00000555673.1_In_Frame_Del_p.E136del|ATP5J2-PTCD1_ENST00000437572.1_5'Flank|PTCD1_ENST00000485746.1_5'UTR|ATP5J2-PTCD1_ENST00000413834.1_In_Frame_Del_p.E136del	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	87					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)	p.E87K(1)		endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TCCCAAAACTCTCCTCCTCCTCC	0.606																																						ENST00000292478.4																			1	Substitution - Missense(1)	p.E87K(1)	lung(1)	endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27						c.(259-261)del		pentatricopeptide repeat domain 1																																				SO:0001651	inframe_deletion	26024							g.chr7:99032605_99032607delCTC	AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.259_261delGAG	7.37:g.99032614_99032616delCTC	ENSP00000292478:p.Glu87del					PTCD1_ENST00000485746.1_5'UTR|PTCD1_ENST00000555673.1_In_Frame_Del_p.E136del|ATP5J2-PTCD1_ENST00000413834.1_In_Frame_Del_p.E136del	p.E87del	NM_015545.3	NP_056360.2			STAD - Stomach adenocarcinoma(171;0.215)		2	509_511	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)							Q3ZB78|Q66K60|Q9UDV2	In_Frame_Del	DEL	ENST00000292478.4	37	c.259_261delGAG	CCDS34691.1																																																																																				0.606	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545		7	185						7	185	---	---	---	---	-	99032607	CTC	-	99032605	7	5	215	1	0	1	0	1	0	0	0	0	12727	912	32	0	1869	0	PTCD1	7	99032605	In_Frame_Del	DEL	CTC	TCGA-EL-A3GU-01A-11D-A21A-08	1296086	99032605	60106058	15	4504											
MKLN1	4289	broad.mit.edu	37	chr7	131073683	131073683	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acaaagaaacattcaccttgAagcataaaattgatgaacag	6	7	1	4			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr7:131073683A>T	ENST00000352689.6	+	4	392	c.352A>T	c.(352-354)Aag>Tag	p.K118*	MKLN1_ENST00000429546.1_Nonsense_Mutation_p.K26*|MKLN1_ENST00000421797.2_Nonsense_Mutation_p.K26*	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	118					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					ATTCACCTTGAAGCATAAAAT	0.299																																						ENST00000352689.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(352-354)Aag>Tag		muskelin 1, intracellular mediator containing kelch motifs							65	65	65					7																	131073683		2203	4296	6499	SO:0001587	stop_gained	4289				signal transduction	cytoplasm	protein binding	g.chr7:131073683A>T	AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.352A>T	7.37:g.131073683A>T	ENSP00000323527:p.Lys118*					MKLN1_ENST00000421797.2_Nonsense_Mutation_p.K26*|MKLN1_ENST00000429546.1_Nonsense_Mutation_p.K26*	p.K118*	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN			4	392	+	Melanoma(18;0.162)		118					A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Nonsense_Mutation	SNP	ENST00000352689.6	37	c.352A>T	CCDS34754.1	.	.	.	.	.	.	.	.	.	.	A	33	5.234366	0.95207	.	.	ENSG00000128585	ENST00000421797;ENST00000416992;ENST00000429546;ENST00000446815;ENST00000352689	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.6403	15.1993	0.73122	1.0:0.0:0.0:0.0	.	.	.	.	X	26;26;26;26;118	.	ENSP00000323527:K118X	K	+	1	0	MKLN1	130724223	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.263000	0.95617	2.187000	0.69744	0.528000	0.53228	AAG		0.299	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	NM_013255		9	20	0	0	0	1	0	9	20					T	131073683	A	T	131073683	4	4	215	1	0	0	0	0	0	1	0	0	9603	247	9	5	399	5	MKLN1	7	131073683	Nonsense_Mutation	SNP	A	TCGA-EL-A3GU-01A-11D-A21A-08	32041078	131073683	28064980	16	4505											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		25	59	0	0	0	1	0	25	59					T	140453136	A	T	140453136	3	4	215	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3GU-01A-11D-A21A-08	9379453	140453136	18685527	17	4506											
TNKS	8658	broad.mit.edu	37	chr8	9609296	9609296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctttagcagagttggccGtaggaggagcctccaatgca	13	11	0	1	rs370349163		TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr8:9609296G>A	ENST00000310430.6	+	19	3036	c.3010G>A	c.(3010-3012)Gta>Ata	p.V1004I	TNKS_ENST00000518281.1_Missense_Mutation_p.V767I	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1004					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AGAGTTGGCCGTAGGAGGAGC	0.542													G|||	1	0.000199681	0	0	5008	,	,		15309	0.001		0	False		,,,				2504	0					ENST00000310430.6																			0				NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(3010-3012)Gta>Ata		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase		G	ILE/VAL	0,4406		0,0,2203	78	82	81		3010	5.7	0.9	8		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	TNKS	NM_003747.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1004/1328	9609296	1,13005	2203	4300	6503	SO:0001583	missense	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9609296G>A	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.3010G>A	8.37:g.9609296G>A	ENSP00000311579:p.Val1004Ile					TNKS_ENST00000518281.1_Missense_Mutation_p.V767I	p.V1004I	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	19	3036	+			1004					O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.3010G>A	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	G	9.102	1.004279	0.19199	0.0	1.16E-4	ENSG00000173273	ENST00000310430;ENST00000518281	T;T	0.61859	0.07;0.14	5.73	5.73	0.89815	.	0.331114	0.32055	N	0.006645	T	0.45034	0.1322	N	0.19112	0.55	0.54753	D	0.999982	B	0.16396	0.017	B	0.09377	0.004	T	0.29941	-0.9995	10	0.18276	T	0.48	.	19.9054	0.97006	0.0:0.0:1.0:0.0	.	1004	O95271	TNKS1_HUMAN	I	1004;767	ENSP00000311579:V1004I;ENSP00000429890:V767I	ENSP00000311579:V1004I	V	+	1	0	TNKS	9646706	1.000000	0.71417	0.901000	0.35422	0.191000	0.23601	6.449000	0.73473	2.698000	0.92095	0.655000	0.94253	GTA		0.542	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		4	172	0	0	0	1	0	4	172					A	9609296	G	A	9609296	3	1	215	1	0	0	0	0	1	0	0	0	16316	1145	40	1	3084	1	TNKS	8	9609296	Missense_Mutation	SNP	G	TCGA-EL-A3GU-01A-11D-A21A-08		9609296	136754726	18	4507											
MPDZ	8777	broad.mit.edu	37	chr9	13125351	13125351	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctcagcatggatggtaagTtttactgtcatctttgctgt	9	7	3	0			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr9:13125351T>C	ENST00000319217.7	-	35	4918	c.4671A>G	c.(4669-4671)aaA>aaG	p.K1557K	MPDZ_ENST00000538841.1_Silent_p.K416K|MPDZ_ENST00000381015.4_Silent_p.K1557K|MPDZ_ENST00000541718.1_Silent_p.K1557K|MPDZ_ENST00000447879.1_Silent_p.K1524K|MPDZ_ENST00000541093.1_5'UTR|MPDZ_ENST00000546205.1_Silent_p.K1571K|MPDZ_ENST00000381022.2_Silent_p.K1557K|MPDZ_ENST00000536827.1_Silent_p.K1524K	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1557	PDZ 9. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GGATGGTAAGTTTTACTGTCA	0.443																																						ENST00000319217.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(4669-4671)aaA>aaG		multiple PDZ domain protein							110	107	108					9																	13125351		1895	4115	6010	SO:0001819	synonymous_variant	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13125351T>C	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.4671A>G	9.37:g.13125351T>C						MPDZ_ENST00000541093.1_5'UTR|MPDZ_ENST00000381022.2_Silent_p.K1557K|MPDZ_ENST00000381015.4_Silent_p.K1557K|MPDZ_ENST00000546205.1_Silent_p.K1571K|MPDZ_ENST00000447879.1_Silent_p.K1524K|MPDZ_ENST00000538841.1_Silent_p.K416K|MPDZ_ENST00000541718.1_Silent_p.K1557K|MPDZ_ENST00000536827.1_Silent_p.K1524K	p.K1557K	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	35	4918	-			1557			PDZ 9.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Silent	SNP	ENST00000319217.7	37	c.4671A>G																																																																																					0.443	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		29	32	0	0	0	1	0	29	32					C	13125351	T	C	13125351	2	2	215	1	0	0	0	0	0	0	0	1	9722	1722	60	3		3	MPDZ	9	13125351	Silent	SNP	T	TCGA-EL-A3GU-01A-11D-A21A-08		13125351	128088080	19	4508											
GALT	2592	broad.mit.edu	37	chr9	34647938	34647938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtcacagaggagctgggtGcccagtacccttgggtgcag	15	11	1	1			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr9:34647938G>A	ENST00000378842.3	+	5	529	c.487G>A	c.(487-489)Gcc>Acc	p.A163T	GALT_ENST00000450095.2_Missense_Mutation_p.A54T|GALT_ENST00000556278.1_Intron|IL11RA_ENST00000555003.1_5'Flank	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	163					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)|UDP-glucose catabolic process (GO:0006258)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	UDP-glucose:hexose-1-phosphate uridylyltransferase activity (GO:0008108)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		GGAGCTGGGTGCCCAGTACCC	0.587									Galactosemia																													ENST00000378842.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16						c.(487-489)Gcc>Acc		galactose-1-phosphate uridylyltransferase							72	68	69					9																	34647938		2203	4300	6503	SO:0001583	missense	2592	Galactosemia	Familial Cancer Database	Galactose-1-Phosphate Uridyltransferase Deficiency	galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding	g.chr9:34647938G>A	M60091	CCDS6565.1, CCDS59122.1	9p13	2013-01-08			ENSG00000213930	ENSG00000213930	2.7.7.12		4135	protein-coding gene	gene with protein product		606999					Standard	NM_000155		Approved		uc003zve.4	P07902	OTTHUMG00000019836	ENST00000378842.3:c.487G>A	9.37:g.34647938G>A	ENSP00000368119:p.Ala163Thr					GALT_ENST00000450095.2_Missense_Mutation_p.A54T|GALT_ENST00000556278.1_Intron	p.A163T	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)	5	529	+	all_epithelial(49;0.102)		163					B4E097|E7ET32|Q14355|Q14356|Q14357|Q14358|Q14359|Q14360|Q14361|Q14363|Q14364|Q14365|Q14369|Q14370|Q14371|Q14372|Q14373|Q14374|Q14375|Q14377|Q14378|Q14380|Q14381|Q14382|Q14383|Q14384|Q14385|Q14386|Q14387|Q14389|Q16766|Q53XK1|Q5VZ81|Q96BY1	Missense_Mutation	SNP	ENST00000378842.3	37	c.487G>A	CCDS6565.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527546	0.44969	.	.	ENSG00000213930	ENST00000450095;ENST00000378842	D;D	0.99454	-5.92;-5.92	5.3	3.35	0.38373	Histidine triad motif (1);Histidine triad-like motif (1);Galactose-1-phosphate uridyl transferase, N-terminal (1);	0.499317	0.17550	U	0.170211	D	0.97986	0.9337	L	0.49699	1.58	0.43211	D	0.995071	B;B;B	0.11235	0.001;0.004;0.001	B;B;B	0.13407	0.005;0.009;0.005	D	0.98083	1.0405	10	0.44086	T	0.13	-4.9035	9.6665	0.39988	0.0749:0.0:0.7851:0.14	.	115;54;163	B4DT62;E7ET32;P07902	.;.;GALT_HUMAN	T	54;163	ENSP00000401956:A54T;ENSP00000368119:A163T	ENSP00000368119:A163T	A	+	1	0	GALT	34637938	0.958000	0.32768	1.000000	0.80357	0.988000	0.76386	1.391000	0.34475	1.228000	0.43614	0.655000	0.94253	GCC		0.587	GALT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052231.1	NM_000155		30	44	0	0	0	1	0	30	44					A	34647938	G	A	34647938	3	1	215	1	0	0	0	0	1	0	0	0	6230	1319	46	2	505	2	GALT	9	34647938	Missense_Mutation	SNP	G	TCGA-EL-A3GU-01A-11D-A21A-08	21522587	34647938	106565493	20	4509											
BSPRY	54836	broad.mit.edu	37	chr9	116116526	116116526	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgtgttgcagaacaagAttgtggaccagtgtgagagg	15	4	0	3			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr9:116116526A>G	ENST00000374183.4	+	2	247	c.208A>G	c.(208-210)Att>Gtt	p.I70V	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	70					calcium ion transport (GO:0006816)	cell leading edge (GO:0031252)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						GCAGAACAAGATTGTGGACCA	0.507																																						ENST00000374183.4																			0				breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(208-210)Att>Gtt		B-box and SPRY domain containing							120	128	125					9																	116116526		2120	4240	6360	SO:0001583	missense	54836				calcium ion transport	cytoplasm|membrane	zinc ion binding	g.chr9:116116526A>G	AJ276691	CCDS43868.1	9q33.1	2008-02-05			ENSG00000119411	ENSG00000119411			18232	protein-coding gene	gene with protein product						10978534, 11099500	Standard	NM_017688		Approved	FLJ20150	uc004bhg.4	Q5W0U4	OTTHUMG00000021006	ENST00000374183.4:c.208A>G	9.37:g.116116526A>G	ENSP00000363298:p.Ile70Val					BSPRY_ENST00000462085.1_3'UTR	p.I70V	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN			2	247	+			70					B3KS19|Q96DJ2|Q9H4E4|Q9NXN0	Missense_Mutation	SNP	ENST00000374183.4	37	c.208A>G	CCDS43868.1	.	.	.	.	.	.	.	.	.	.	A	13.55	2.271403	0.40194	.	.	ENSG00000119411	ENST00000374183	T	0.57107	0.42	5.01	3.85	0.44370	.	0.068566	0.56097	D	0.000025	T	0.36082	0.0954	L	0.27053	0.805	0.26583	N	0.973333	P;B	0.41041	0.736;0.302	B;B	0.35688	0.208;0.073	T	0.23940	-1.0174	10	0.66056	D	0.02	-9.451	9.7878	0.40686	0.6359:0.3641:0.0:0.0	.	70;70	Q5W0U4-2;Q5W0U4	.;BSPRY_HUMAN	V	70	ENSP00000363298:I70V	ENSP00000363298:I70V	I	+	1	0	BSPRY	115156347	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.985000	0.40668	0.743000	0.32719	0.482000	0.46254	ATT		0.507	BSPRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055399.1	NM_017688		30	35	0	0	0	1	0	30	35					G	116116526	A	G	116116526	3	3	215	1	0	0	0	0	1	0	0	0	1532	333	12	3	214	3	BSPRY	9	116116526	Missense_Mutation	SNP	A	TCGA-EL-A3GU-01A-11D-A21A-08	81468588	116116526	25096905	21	4510											
COL5A1	1289	broad.mit.edu	37	chr9	137721851	137721851	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcttggcccaaagaaaaCccgggctcctggttcagtga	10	12	2	2	rs138396959		TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr9:137721851C>T	ENST00000371817.3	+	64	5511	c.5097C>T	c.(5095-5097)aaC>aaT	p.N1699N		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1699	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCAAAGAAAACCCGGGCTCCT	0.537																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(5095-5097)aaC>aaT		collagen, type V, alpha 1							74	70	71					9																	137721851		2203	4300	6503	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137721851C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.5097C>T	9.37:g.137721851C>T							p.N1699N	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	64	5511	+		Myeloproliferative disorder(178;0.0341)	1699			Fibrillar collagen NC1.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.5097C>T	CCDS6982.1																																																																																				0.537	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		5	21	0	0	0	1	0	5	21					T	137721851	C	T	137721851	2	4	215	1	0	0	0	0	0	0	0	1	3696	506	18	2		2	COL5A1	9	137721851	Silent	SNP	C	TCGA-EL-A3GU-01A-11D-A21A-08	21605325	137721851	3491580	22	4511											
JMJD1C	221037	broad.mit.edu	37	chr10	64967938	64967938	+	Frame_Shift_Del	DEL	G	G	-													tctgatgtggaagatgttctGgtatcttgcctactaaacct							TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr10:64967938delG	ENST00000399262.2	-	10	3709	c.3491delC	c.(3490-3492)ccafs	p.P1164fs	JMJD1C_ENST00000399251.1_Frame_Shift_Del_p.P945fs|JMJD1C_ENST00000542921.1_Frame_Shift_Del_p.P982fs|JMJD1C_ENST00000402544.1_Frame_Shift_Del_p.P945fs	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1164					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)					AAGATGTTCTGGTATCTTGCC	0.388																																						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.(3490-3492)cafs		jumonji domain containing 1C							198	188	191					10																	64967938		1938	4151	6089	SO:0001589	frameshift_variant	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.chr10:64967938delG	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.3491delC	10.37:g.64967938delG	ENSP00000382204:p.Pro1164fs					JMJD1C_ENST00000399251.1_Frame_Shift_Del_p.P945fs|JMJD1C_ENST00000402544.1_Frame_Shift_Del_p.P945fs|JMJD1C_ENST00000542921.1_Frame_Shift_Del_p.P982fs	p.P1164fs	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			10	3709	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1164					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Frame_Shift_Del	DEL	ENST00000399262.2	37	c.3491delC	CCDS41532.1																																																																																				0.388	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		92	183						92	183	---	---	---	---	-	64967938	G	-	64967938	7	5	215	1	0	1	0	1	0	0	0	0	7950	1348	47	0	4199	0	JMJD1C	10	64967938	Frame_Shift_Del	DEL	G	TCGA-EL-A3GU-01A-11D-A21A-08		64967938	70566809	23	4512											
SLIT1	6585	broad.mit.edu	37	chr10	98816982	98816982	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttacaggagctgtagggtgTataggcctccaaacacacca	10	11	0	0			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr10:98816982T>C	ENST00000266058.4	-	12	1387	c.1142A>G	c.(1141-1143)tAc>tGc	p.Y381C	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.Y381C	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	381					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CTGTAGGGTGTATAGGCCTCC	0.572																																						ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(1141-1143)tAc>tGc		slit homolog 1 (Drosophila)							89	80	83					10																	98816982		2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98816982T>C	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"slit (Drosophila) homolog 1"	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.1142A>G	10.37:g.98816982T>C	ENSP00000266058:p.Tyr381Cys					ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.Y381C	p.Y381C	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	12	1387	-		Colorectal(252;0.162)	381					Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.1142A>G	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	T	13.56	2.272659	0.40194	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371054;ENST00000371070;ENST00000314867;ENST00000456008	T;T;T	0.57752	0.38;0.38;0.38	5.62	3.12	0.35913	.	0.254676	0.40469	N	0.001097	T	0.52837	0.1759	N	0.25332	0.735	0.80722	D	1	P;D	0.54047	0.922;0.964	P;P	0.61070	0.883;0.806	T	0.49495	-0.8934	10	0.40728	T	0.16	.	10.3065	0.43683	0.3669:0.0:0.0:0.6331	.	391;381	E7EWQ8;O75093	.;SLIT1_HUMAN	C	381;391;357;381;374;357	ENSP00000266058:Y381C;ENSP00000360109:Y381C;ENSP00000315005:Y374C	ENSP00000266058:Y381C	Y	-	2	0	SLIT1	98806972	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.859000	0.39418	0.937000	0.37394	0.533000	0.62120	TAC		0.572	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		3	62	0	0	0	1	0	3	62					C	98816982	T	C	98816982	3	2	215	1	0	0	0	0	1	0	0	0	14739	1638	57	3	3566	3	SLIT1	10	98816982	Missense_Mutation	SNP	T	TCGA-EL-A3GU-01A-11D-A21A-08	33849044	98816982	36717765	24	4513											
MXI1	4601	broad.mit.edu	37	chr10	111986020	111986020	+	Frame_Shift_Del	DEL	T	T	-													gtctgctggaggctgccgagTttttggagcgccgggagcga							TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr10:111986020delT	ENST00000239007.7	+	1	270	c.52delT	c.(52-54)tttfs	p.F18fs	MXI1_ENST00000393134.1_Frame_Shift_Del_p.F18fs|MXI1_ENST00000361248.4_Intron|MXI1_ENST00000332674.5_Intron|MXI1_ENST00000369612.1_5'Flank	NM_005962.4	NP_005953.4	P50539	MXI1_HUMAN	MAX interactor 1, dimerization protein	18					cytoplasmic sequestering of transcription factor (GO:0042994)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1)	10		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GGCTGCCGAGTTTTTGGAGCG	0.677																																						ENST00000239007.7																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1)	10						c.(52-54)ttfs		MAX interactor 1, dimerization protein			,,	0,3766		0,0,1883	26	20	22		,,	3.0	1.0	10		22	6,7294		1,4,3645	no	intron,frameshift,intron	MXI1	NM_130439.3,NM_005962.4,NM_001008541.1	,,	1,4,5528	A1A1,A1R,RR		0.0822,0.0,0.0542	,,	,,	111986020	6,11060	1991	3877	5868	SO:0001589	frameshift_variant	4601				cytoplasmic sequestering of transcription factor|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity	g.chr10:111986020delT	BC016678	CCDS7563.1, CCDS7564.2, CCDS31284.1	10q24-q25	2012-11-15	2012-11-15		ENSG00000119950	ENSG00000119950		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	7534	protein-coding gene	gene with protein product		600020	"MAX interacting protein 1", "MAX interactor 1"			7959753	Standard	NM_130439		Approved	MXD2, MAD2, MXI, bHLHc11	uc001kyy.3	P50539	OTTHUMG00000019033	ENST00000239007.7:c.52delT	10.37:g.111986020delT	ENSP00000239007:p.Phe18fs					MXI1_ENST00000332674.5_Intron|MXI1_ENST00000361248.4_Intron|MXI1_ENST00000393134.1_Frame_Shift_Del_p.F18fs	p.F18fs	NM_005962.4	NP_005953.4	P50539	MXI1_HUMAN		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)	1	270	+		Breast(234;0.052)|Lung NSC(174;0.223)	18					B1ANN7|D3DR25|D3DRA9|Q15887|Q6FHW2|Q96E53	Frame_Shift_Del	DEL	ENST00000239007.7	37	c.52delT	CCDS7564.2																																																																																				0.677	MXI1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050316.1	NM_130439		2	4						2	4	---	---	---	---	-	111986020	T	-	111986020	7	5	215	1	0	1	0	1	0	0	0	0	10002	1725	60	0	332	0	MXI1	10	111986020	Frame_Shift_Del	DEL	T	TCGA-EL-A3GU-01A-11D-A21A-08	13169038	111986020	23548727	25	4514											
MRPL23	6150	broad.mit.edu	37	chr11	1977593	1977593	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctcgaggaggagaggcaGcagaggcagagcagcgaccc	17	10	0	3			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr11:1977593G>A	ENST00000397298.3	+	5	490	c.405G>A	c.(403-405)caG>caA	p.Q135Q	MRPL23_ENST00000397294.3_Intron|MRPL23_ENST00000381514.3_Intron|MRPL23_ENST00000381519.1_Silent_p.Q135Q|MRPL23_ENST00000397297.3_Intron	NM_021134.3	NP_066957.3	Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	135					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		AGGAGAGGCAGCAGAGGCAGA	0.682																																						ENST00000397298.3																			0				large_intestine(2)|lung(1)|ovary(1)	4						c.(403-405)caG>caA		mitochondrial ribosomal protein L23							51	51	51					11																	1977593		2202	4299	6501	SO:0001819	synonymous_variant	6150				translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome	g.chr11:1977593G>A	AB051340	CCDS31336.1	11p15.5	2012-09-13			ENSG00000214026	ENSG00000214026		"Mitochondrial ribosomal proteins / large subunits"	10322	protein-coding gene	gene with protein product		600789		RPL23L		8541832	Standard	NM_021134		Approved	L23MRP	uc001lux.3	Q16540	OTTHUMG00000012476	ENST00000397298.3:c.405G>A	11.37:g.1977593G>A						MRPL23_ENST00000397294.3_Intron|MRPL23_ENST00000397297.3_Intron|MRPL23_ENST00000381519.1_Silent_p.Q135Q|MRPL23_ENST00000381514.3_Intron	p.Q135Q	NM_021134.3	NP_066957.3	Q16540	RM23_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)	5	490	+		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	135					A8MT29|Q96Q71	Silent	SNP	ENST00000397298.3	37	c.405G>A	CCDS31336.1																																																																																				0.682	MRPL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034765.2	NM_021134		4	81	0	0	0	1	0	4	81					A	1977593	G	A	1977593	2	1	215	1	0	0	0	0	0	0	0	1	9789	962	34	2		2	MRPL23	11	1977593	Silent	SNP	G	TCGA-EL-A3GU-01A-11D-A21A-08		1977593	133028923	26	4515											
PRMT3	10196	broad.mit.edu	37	chr11	20409654	20409654	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggaggatgaggacgatgcaGatctcccccacggcaagcag	15	11	1	2			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr11:20409654G>A	ENST00000331079.6	+	2	335	c.118G>A	c.(118-120)Gat>Aat	p.D40N	PRMT3_ENST00000437750.2_Intron	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	40					histone arginine methylation (GO:0034969)|negative regulation of protein ubiquitination (GO:0031397)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ribosome (GO:0005840)	histone-arginine N-methyltransferase activity (GO:0008469)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|modified amino acid binding (GO:0072341)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						GGACGATGCAGATCTCCCCCA	0.677																																						ENST00000331079.6																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						c.(118-120)Gat>Aat		protein arginine methyltransferase 3							81	74	77					11																	20409654		2203	4300	6503	SO:0001583	missense	10196						zinc ion binding	g.chr11:20409654G>A	AF059531	CCDS7853.1, CCDS44554.1	11p15.1	2008-02-05	2006-02-16	2006-02-16	ENSG00000185238	ENSG00000185238		"Protein arginine methyltransferases"	30163	protein-coding gene	gene with protein product		603190	"HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"	HRMT1L3		9642256	Standard	NM_005788		Approved		uc001mqb.3	O60678	OTTHUMG00000166022	ENST00000331079.6:c.118G>A	11.37:g.20409654G>A	ENSP00000331879:p.Asp40Asn					PRMT3_ENST00000437750.2_Intron	p.D40N	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN			2	335	+			40					B4DUC7	Missense_Mutation	SNP	ENST00000331079.6	37	c.118G>A	CCDS7853.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.780623	0.31502	.	.	ENSG00000185238	ENST00000331079;ENST00000541255	T	0.52295	0.67	5.84	5.84	0.93424	.	.	.	.	.	T	0.31136	0.0787	N	0.14661	0.345	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.08472	-1.0720	9	0.40728	T	0.16	.	11.4653	0.50235	0.1133:0.0:0.8867:0.0	.	40	O60678	ANM3_HUMAN	N	40	ENSP00000331879:D40N	ENSP00000331879:D40N	D	+	1	0	PRMT3	20366230	0.994000	0.37717	0.021000	0.16686	0.463000	0.32649	4.425000	0.59875	2.754000	0.94517	0.655000	0.94253	GAT		0.677	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387489.1	NM_005788		3	94	0	0	0	1	0	3	94					A	20409654	G	A	20409654	3	1	215	1	0	0	0	0	1	0	0	0	12538	942	33	2	124	2	PRMT3	11	20409654	Missense_Mutation	SNP	G	TCGA-EL-A3GU-01A-11D-A21A-08	18432061	20409654	114596862	27	4516											
RELT	84957	broad.mit.edu	37	chr11	73105583	73105583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgccaccatctccacaccGtgcagggcctggcctcgctc	9	20	1	0	rs146155880		TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr11:73105583G>A	ENST00000064780.2	+	9	1111	c.850G>A	c.(850-852)Gtg>Atg	p.V284M	RELT_ENST00000393580.2_Missense_Mutation_p.V284M|RP11-809N8.2_ENST00000544674.1_RNA	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	284						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						TCTCCACACCGTGCAGGGCCT	0.697																																						ENST00000064780.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						c.(850-852)Gtg>Atg		RELT tumor necrosis factor receptor		G	MET/VAL,MET/VAL	1,4397	2.1+/-5.4	0,1,2198	52	56	55		850,850	5.0	1.0	11	dbSNP_134	55	0,8584		0,0,4292	no	missense,missense	RELT	NM_032871.3,NM_152222.1	21,21	0,1,6490	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	284/431,284/431	73105583	1,12981	2199	4292	6491	SO:0001583	missense	84957					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity	g.chr11:73105583G>A	AF319553	CCDS8222.1	11q13.2	2013-05-22	2007-06-14	2007-06-14		ENSG00000054967		"Tumor necrosis factor receptor superfamily"	13764	protein-coding gene	gene with protein product		611211	"tumor necrosis factor receptor superfamily, member 19-like"	TNFRSF19L		11313261, 16547002, 16950202, 16389068	Standard	NM_032871		Approved	FLJ14993	uc001otv.3	Q969Z4		ENST00000064780.2:c.850G>A	11.37:g.73105583G>A	ENSP00000064780:p.Val284Met					RELT_ENST00000393580.2_Missense_Mutation_p.V284M	p.V284M	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN			9	1111	+			284					Q86V34|Q96JU1|Q9BUX7	Missense_Mutation	SNP	ENST00000064780.2	37	c.850G>A	CCDS8222.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679349	0.88542	2.27E-4	0.0	ENSG00000054967	ENST00000064780;ENST00000393580;ENST00000438119	D;D	0.82803	-1.65;-1.65	5.04	5.04	0.67666	.	0.168780	0.41605	D	0.000856	D	0.90150	0.6922	M	0.77313	2.365	0.40414	D	0.979775	D	0.76494	0.999	P	0.61722	0.893	D	0.91745	0.5407	10	0.87932	D	0	-13.6782	17.5517	0.87878	0.0:0.0:1.0:0.0	.	284	Q969Z4	TR19L_HUMAN	M	284;284;152	ENSP00000064780:V284M;ENSP00000377207:V284M	ENSP00000064780:V284M	V	+	1	0	RELT	72783231	1.000000	0.71417	0.983000	0.44433	0.985000	0.73830	5.156000	0.64905	2.618000	0.88619	0.655000	0.94253	GTG		0.697	RELT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397380.2	NM_032871		4	146	0	0	0	1	0	4	146					A	73105583	G	A	73105583	3	1	215	1	0	0	0	0	1	0	0	0	13221	1145	40	1	880	1	RELT	11	73105583	Missense_Mutation	SNP	G	TCGA-EL-A3GU-01A-11D-A21A-08	52695929	73105583	61900933	28	4517											
MSI1	4440	broad.mit.edu	37	chr12	120794808	120794808	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcacctcctttggctgagcTttcttacattccacctgcaa	5	14	2	1			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr12:120794808T>G	ENST00000257552.2	-	9	637	c.549A>C	c.(547-549)aaA>aaC	p.K183N	MSI1_ENST00000546622.1_5'UTR	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	183	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTGGCTGAGCTTTCTTACATT	0.542											OREG0022190	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000257552.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19						c.(547-549)aaA>aaC		musashi RNA-binding protein 1							110	91	98					12																	120794808		2203	4300	6503	SO:0001583	missense	4440				nervous system development	cytoplasm|nucleus	nucleotide binding	g.chr12:120794808T>G	AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"RNA binding motif (RRM) containing"	7330	protein-coding gene	gene with protein product		603328	"Musashi (Drosophila) homolog 1", "musashi homolog 1 (Drosophila)"			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.549A>C	12.37:g.120794808T>G	ENSP00000257552:p.Lys183Asn		OREG0022190	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1506	MSI1_ENST00000546622.1_5'UTR	p.K183N	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN			9	637	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		183			RRM 2.		Q96PU0|Q96PU1|Q96PU2|Q96PU3	Missense_Mutation	SNP	ENST00000257552.2	37	c.549A>C	CCDS9196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.52|18.52	3.641406|3.641406	0.67244|0.67244	.|.	.|.	ENSG00000135097|ENSG00000135097	ENST00000257552|ENST00000546985	D|D	0.90069|0.90563	-2.61|-2.69	4.1|4.1	4.1|4.1	0.47936|0.47936	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);|.	0.164836|0.164836	0.40222|0.40222	N|N	0.001150|0.001150	D|D	0.92463|0.92463	0.7607|0.7607	M|M	0.79123|0.79123	2.44|2.44	0.80722|0.80722	D|D	1|1	P|.	0.52061|.	0.95|.	P|.	0.55667|.	0.781|.	D|D	0.92468|0.92468	0.5983|0.5983	10|8	0.87932|0.87932	D|D	0|0	.|.	7.045|7.045	0.25040|0.25040	0.0:0.173:0.0:0.827|0.0:0.173:0.0:0.827	.|.	183|.	O43347|.	MSI1H_HUMAN|.	N|T	183|115	ENSP00000257552:K183N|ENSP00000446710:K115T	ENSP00000257552:K183N|ENSP00000446710:K115T	K|K	-|-	3|2	2|0	MSI1|MSI1	119279191|119279191	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.924000|0.924000	0.55760|0.55760	1.226000|1.226000	0.32563|0.32563	2.075000|2.075000	0.62263|0.62263	0.459000|0.459000	0.35465|0.35465	AAA|AAG		0.542	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403629.1	NM_002442		9	55	0	0	0	1	0	9	55					G	120794808	T	G	120794808	3	3	215	1	0	0	0	0	1	0	0	0	9875	1606	56	5	563	5	MSI1	12	120794808	Missense_Mutation	SNP	T	TCGA-EL-A3GU-01A-11D-A21A-08		120794808	13057087	29	4518											
NIN	51199	broad.mit.edu	37	chr14	51192784	51192784	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccagttgttcctggtttcCctgaagggaagaaaagtata	10	7	0	2			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr14:51192784C>T	ENST00000382041.3	-	30	6269	c.6079G>A	c.(6079-6081)Gga>Aga	p.G2027R	NIN_ENST00000389868.3_3'UTR|NIN_ENST00000245441.5_Splice_Site_p.G2027R|NIN_ENST00000382043.4_Splice_Site_p.G1314R|NIN_ENST00000530997.2_Splice_Site_p.G2027R|RP11-248J18.3_ENST00000602615.1_RNA|NIN_ENST00000324330.9_3'UTR	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	2027					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TCCTGGTTTCCCTGAAGGGAA	0.378			T	PDGFRB	MPD																																	ENST00000245441.5				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.e30-1		ninein (GSK3B interacting protein)							124	109	114					14																	51192784		2203	4300	6503	SO:0001630	splice_region_variant	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51192784C>T	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"EF-hand domain containing"	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.6079-1G>A	14.37:g.51192784C>T						NIN_ENST00000530997.2_Splice_Site_p.G2027_splice|NIN_ENST00000389868.3_3'UTR|NIN_ENST00000382043.4_Splice_Site_p.G1314_splice|NIN_ENST00000382041.3_Splice_Site_p.G2027_splice|NIN_ENST00000324330.9_3'UTR	p.G2027_splice	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN			30	6269	-	all_epithelial(31;0.00244)|Breast(41;0.127)		2027					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Splice_Site	SNP	ENST00000382041.3	37	c.6078_splice	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.50|15.50	2.852617|2.852617	0.51270|0.51270	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000530997;ENST00000389869|ENST00000245441;ENST00000311149;ENST00000382043;ENST00000324292;ENST00000382041	.|T;T;T	.|0.28895	.|1.59;2.77;3.27	5.93|5.93	4.1|4.1	0.47936|0.47936	.|.	0.613165|0.613165	0.17764|0.17764	N|N	0.162794|0.162794	T|T	0.33059|0.33059	0.0850|0.0850	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	.|B;B;P;B	.|0.49559	.|0.081;0.029;0.925;0.029	.|B;B;P;B	.|0.46885	.|0.034;0.011;0.53;0.011	T|T	0.04796|0.04796	-1.0926|-1.0926	6|10	.|0.23891	.|T	.|0.37	-1.2052|-1.2052	9.5223|9.5223	0.39143|0.39143	0.0:0.7845:0.0:0.2155|0.0:0.7845:0.0:0.2155	.|.	.|2033;2027;1314;2027	.|Q8N4C6-5;Q8N4C6;Q5BKU3;Q8N4C6-7	.|.;NIN_HUMAN;.;.	E|R	1517|2027;2010;1314;2033;2027	.|ENSP00000245441:G2027R;ENSP00000371474:G1314R;ENSP00000371472:G2027R	.|ENSP00000245441:G2027R	G|G	-|-	2|1	0|0	NIN|NIN	50262534|50262534	0.981000|0.981000	0.34729|0.34729	0.981000|0.981000	0.43875|0.43875	0.717000|0.717000	0.41224|0.41224	2.503000|2.503000	0.45407|0.45407	1.515000|1.515000	0.48885|0.48885	0.655000|0.655000	0.94253|0.94253	GGG|GGA		0.378	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946	Missense_Mutation	19	36	0	0	0	1	0	19	36					T	51192784	C	T	51192784	5	4	215	1	0	0	0	0	0	0	1	0	10417	637	22	2	411	2	NIN	14	51192784	Splice_Site	SNP	C	TCGA-EL-A3GU-01A-11D-A21A-08		51192784	56156756	30	4519											
TRADD	8717	broad.mit.edu	37	chr16	67189037	67189039	+	In_Frame_Del	DEL	GGC	GGC	-													acagaaaagtctgggcaggtGgcggcggcggcggcggcttc							TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr16:67189037_67189039delGGC	ENST00000345057.4	-	4	1056_1058	c.588_590delGCC	c.(586-591)ccgcca>cca	p.196_197PP>P	TRADD_ENST00000566104.1_5'Flank|TRADD_ENST00000486556.1_In_Frame_Del_p.136_137PP>P	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	196	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.|Poly-Pro.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic process (GO:0043065)|positive regulation of hair follicle development (GO:0051798)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|nucleus (GO:0005634)|receptor complex (GO:0043235)	binding, bridging (GO:0060090)|death domain binding (GO:0070513)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CTGGGCAGGTGGCGGCGGCGGCG	0.724																																						ENST00000345057.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11						c.(586-591)cca>cc		TNFRSF1A-associated via death domain				17,1653		5,7,823						-10.0	0.0			2	44,4012		13,18,1997	no	coding	TRADD	NM_003789.3		18,25,2820	A1A1,A1R,RR		1.0848,1.018,1.0653				61,5665				SO:0001651	inframe_deletion	8717				activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity	g.chr16:67189037_67189039delGGC	L41690	CCDS10829.1	16q22	2008-07-28			ENSG00000102871	ENSG00000102871			12030	protein-coding gene	gene with protein product		603500				7758105	Standard	NM_003789		Approved	Hs.89862	uc002eri.1	Q15628	OTTHUMG00000137519	ENST00000345057.4:c.588_590delGCC	16.37:g.67189046_67189048delGGC	ENSP00000341268:p.Pro198del					TRADD_ENST00000486556.1_In_Frame_Del_p.PP136del	p.PP196del	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	4	1056_1058	-		Ovarian(137;0.0563)	196			Death.|Poly-Pro.		B2RDS3|B3KQZ9|Q52NZ1	In_Frame_Del	DEL	ENST00000345057.4	37	c.588_590delGCC	CCDS10829.1																																																																																				0.724	TRADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268841.2			3	5						3	5	---	---	---	---	-	67189039	GGC	-	67189037	7	5	215	1	0	1	0	1	0	0	0	0	16433	1348	47	0	356	0	TRADD	16	67189037	In_Frame_Del	DEL	GGC	TCGA-EL-A3GU-01A-11D-A21A-08		67189037	23165716	31	4520											
MED31	51003	broad.mit.edu	37	chr17	6553677	6553677	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgcttaacaacttacaAttaaggtaatttgggttggc	11	5	0	0			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr17:6553677A>G	ENST00000225728.3	-	2	210	c.105T>C	c.(103-105)aaT>aaC	p.N35N	MED31_ENST00000575197.1_Splice_Site_p.N35N|MED31_ENST00000574128.1_5'UTR|C17orf100_ENST00000391428.2_5'Flank	NM_016060.2	NP_057144.1	Q9Y3C7	MED31_HUMAN	mediator complex subunit 31	35					gene expression (GO:0010467)|limb development (GO:0060173)|negative regulation of fibroblast proliferation (GO:0048147)|protein complex assembly (GO:0006461)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|endometrium(1)|large_intestine(1)	3						ACAACTTACAATTAAGGTAAT	0.353																																						ENST00000225728.3																			0				cervix(1)|endometrium(1)|large_intestine(1)	3						c.e2+1		mediator complex subunit 31							118	113	115					17																	6553677		2203	4300	6503	SO:0001630	splice_region_variant	51003				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding	g.chr17:6553677A>G	AF151883	CCDS11078.1	17p13.1	2007-07-30	2007-07-30		ENSG00000108590	ENSG00000108590			24260	protein-coding gene	gene with protein product			"mediator of RNA polymerase II transcription, subunit 31 homolog (S. cerevisiae)"			10810093	Standard	NM_016060		Approved	CGI-125, Soh1	uc002gdg.4	Q9Y3C7	OTTHUMG00000102051	ENST00000225728.3:c.106+1T>C	17.37:g.6553677A>G						MED31_ENST00000575197.1_Splice_Site_p.N35_splice|MED31_ENST00000574128.1_5'UTR	p.N35_splice	NM_016060.2	NP_057144.1	Q9Y3C7	MED31_HUMAN			2	210	-			35					B2R4L9	Splice_Site	SNP	ENST00000225728.3	37	c.106_splice	CCDS11078.1																																																																																				0.353	MED31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219852.1	NM_016060	Silent	6	185	0	0	0	1	0	6	185					G	6553677	A	G	6553677	5	3	215	1	0	0	0	0	0	0	1	0	9449	115	4	3	302	3	MED31	17	6553677	Splice_Site	SNP	A	TCGA-EL-A3GU-01A-11D-A21A-08		6553677	74641533	32	4521											
SLC1A6	6511	broad.mit.edu	37	chr19	15063783	15063783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcgtgatgtcttccgtggGcaagccgaccgacgtaagca	14	11	1	1			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr19:15063783G>A	ENST00000221742.3	-	8	1463	c.1456C>T	c.(1456-1458)Ccc>Tcc	p.P486S	SLC1A6_ENST00000600144.1_Missense_Mutation_p.P408S|SLC1A6_ENST00000430939.2_Missense_Mutation_p.P422S	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	486					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						TCTTCCGTGGGCAAGCCGACC	0.612																																						ENST00000430939.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1264-1266)Ccc>Tcc		solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	L-Glutamic Acid(DB00142)						195	150	166					19																	15063783		2203	4300	6503	SO:0001583	missense	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15063783G>A		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"Solute carriers"	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1456C>T	19.37:g.15063783G>A	ENSP00000221742:p.Pro486Ser					SLC1A6_ENST00000600144.1_Missense_Mutation_p.P408S|SLC1A6_ENST00000221742.3_Missense_Mutation_p.P486S	p.P422S			P48664	EAA4_HUMAN			8	1393	-			486					Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	c.1264C>T	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	-	24.8	4.573036	0.86542	.	.	ENSG00000105143	ENST00000430939;ENST00000221742	T;T	0.68903	-0.36;-0.36	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	D	0.83797	0.5332	M	0.89214	3.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.87145	0.2205	10	0.87932	D	0	-28.1013	14.8789	0.70516	0.0:0.0:1.0:0.0	.	422;486	E7EV13;P48664	.;EAA4_HUMAN	S	422;486	ENSP00000409386:P422S;ENSP00000221742:P486S	ENSP00000221742:P486S	P	-	1	0	SLC1A6	14924783	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.401000	0.97294	2.451000	0.82905	0.446000	0.29264	CCC		0.612	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		4	213	0	0	0	1	0	4	213					A	15063783	G	A	15063783	3	1	215	1	0	0	0	0	1	0	0	0	14436	1203	42	2	246	2	SLC1A6	19	15063783	Missense_Mutation	SNP	G	TCGA-EL-A3GU-01A-11D-A21A-08		15063783	44065200	33	4522											
SBSN	374897	broad.mit.edu	37	chr19	36019046	36019047	+	Frame_Shift_Del	DEL	CT	CT	-													ccatccagggccttgcccacCtctctctctgcattgctcag							TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr19:36019046_36019047delCT	ENST00000452271.2	-	1	165_166	c.137_138delAG	c.(136-138)gagfs	p.E46fs	SBSN_ENST00000518157.1_Frame_Shift_Del_p.E46fs	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	46						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.E46fs*27(1)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTTGCCCACCTCTCTCTCTGC	0.579																																						ENST00000452271.2																			1	Deletion - Frameshift(1)	p.E46fs*27(1)	large_intestine(1)	large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14						c.(136-138)gfs		suprabasin																																				SO:0001589	frameshift_variant	374897					extracellular region		g.chr19:36019046_36019047delCT	AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.137_138delAG	19.37:g.36019054_36019055delCT	ENSP00000430242:p.Glu46fs					SBSN_ENST00000518157.1_Frame_Shift_Del_p.E46fs	p.E46fs	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		1	165_166	-	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		46					A8K5J0|E9PBV3	Frame_Shift_Del	DEL	ENST00000452271.2	37	c.137_138delAG	CCDS54253.1																																																																																				0.579	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538		7	294						7	294	---	---	---	---	-	36019047	CT	-	36019046	7	5	215	1	0	1	0	1	0	0	0	0	13864	680	24	0	1650	0	SBSN	19	36019046	Frame_Shift_Del	DEL	CT	TCGA-EL-A3GU-01A-11D-A21A-08	20955263	36019046	23109937	34	4523											
HNF4A	3172	broad.mit.edu	37	chr20	43043255	43043255	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agctgctggttctcgttgagTgggccaagtacatcccagct	12	11	1	1			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr20:43043255T>A	ENST00000316099.4	+	5	690	c.601T>A	c.(601-603)Tgg>Agg	p.W201R	HNF4A_ENST00000609795.1_Missense_Mutation_p.W179R|HNF4A_ENST00000443598.2_Missense_Mutation_p.W201R|HNF4A_ENST00000316673.4_Missense_Mutation_p.W179R|HNF4A_ENST00000415691.2_Missense_Mutation_p.W201R|HNF4A_ENST00000457232.1_Missense_Mutation_p.W179R	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	201					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TCTCGTTGAGTGGGCCAAGTA	0.622																																					Colon(79;2 1269 8820 14841 52347)	ENST00000316099.3																			0				endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34						c.(601-603)Tgg>Agg		hepatocyte nuclear factor 4, alpha							109	81	91					20																	43043255		2203	4300	6503	SO:0001583	missense	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43043255T>A	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"Nuclear hormone receptors"	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.601T>A	20.37:g.43043255T>A	ENSP00000312987:p.Trp201Arg					HNF4A_ENST00000457232.1_Missense_Mutation_p.W179R|HNF4A_ENST00000443598.2_Missense_Mutation_p.W201R|HNF4A_ENST00000415691.1_Missense_Mutation_p.W201R	p.W201R	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		5	690	+		Myeloproliferative disorder(115;0.0122)	201					A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	ENST00000316099.4	37	c.601T>A	CCDS13330.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.729630	0.89390	.	.	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000443598;ENST00000338692;ENST00000415691	D;D;D;D;D	0.96716	-4.1;-4.1;-4.1;-4.1;-4.1	5.75	5.75	0.90469	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98918	0.9633	H	0.98199	4.17	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.99486	1.0949	10	0.87932	D	0	.	16.0671	0.80891	0.0:0.0:0.0:1.0	.	194;201;201;201;179;179;179	Q5QPB7;P41235;F1D8S2;P41235-3;F1D8T0;P41235-6;P41235-7	.;HNF4A_HUMAN;.;.;.;.;.	R	179;179;201;201;231;201	ENSP00000315180:W179R;ENSP00000396216:W179R;ENSP00000312987:W201R;ENSP00000410911:W201R;ENSP00000412111:W201R	ENSP00000312987:W201R	W	+	1	0	HNF4A	42476669	1.000000	0.71417	0.990000	0.47175	0.943000	0.58893	8.040000	0.89188	2.192000	0.70111	0.460000	0.39030	TGG		0.622	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			5	32	0	0	0	1	0	5	32					A	43043255	T	A	43043255	3	1	215	1	0	0	0	0	1	0	0	0	7253	1696	59	5	672	5	HNF4A	20	43043255	Missense_Mutation	SNP	T	TCGA-EL-A3GU-01A-11D-A21A-08		43043255	19982265	35	4524											
MYT1	4661	broad.mit.edu	37	chr20	62839353	62839353	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggaggaggaggaAgaggaggaggaggaggatga	25	0	0	2	rs370664533	byFrequency	TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr20:62839353A>C	ENST00000328439.1	+	7	1168	c.804A>C	c.(802-804)gaA>gaC	p.E268D	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000536311.1_Missense_Mutation_p.E268D	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E268E(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaagaggaggagg	0.572																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			2	Substitution - coding silent(2)	p.E268E(2)	prostate(1)|kidney(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(802-804)gaA>gaC		myelin transcription factor 1							19	19	19					20																	62839353		2203	4300	6503	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62839353A>C	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"Zinc fingers, C2HC-type containing"	7622	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 2"	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.804A>C	20.37:g.62839353A>C	ENSP00000327465:p.Glu268Asp					MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Missense_Mutation_p.E268D	p.E268D			Q01538	MYT1_HUMAN			7	1168	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		268			Glu-rich.		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.804A>C	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	a	2.396	-0.338698	0.05243	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.26067	1.76;1.76	4.04	-2.32	0.06745	.	0.599767	0.13616	N	0.374760	T	0.09423	0.0232	N	0.08118	0	0.53688	D	0.999975	B	0.06786	0.001	B	0.06405	0.002	T	0.33954	-0.9848	10	0.12766	T	0.61	-2.5741	6.6854	0.23142	0.5634:0.1305:0.3061:0.0	.	268	Q01538	MYT1_HUMAN	D	268	ENSP00000327465:E268D;ENSP00000442412:E268D	ENSP00000327465:E268D	E	+	3	2	MYT1	62309797	0.136000	0.22515	0.035000	0.18076	0.041000	0.13682	-1.717000	0.01876	-0.461000	0.06993	-0.488000	0.04728	GAA		0.572	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		3	9	0	0	0	1	0	3	9					C	62839353	A	C	62839353	3	2	215	1	0	0	0	0	1	0	0	0	10106	69	3	5	822	5	MYT1	20	62839353	Missense_Mutation	SNP	A	TCGA-EL-A3GU-01A-11D-A21A-08	19796098	62839353	186167	36	4525											
TTC38	55020	broad.mit.edu	37	chr22	46669963	46669963	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtagagacatttgccaAtgggtgaggggcctccctgg	15	9	0	2			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr22:46669963A>G	ENST00000381031.3	+	4	438	c.362A>G	c.(361-363)aAt>aGt	p.N121S	TTC38_ENST00000445282.2_Missense_Mutation_p.N121S	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	121						extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						ACATTTGCCAATGGGTGAGGG	0.632																																						ENST00000381031.3																			0				endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						c.(361-363)aAt>aGt		tetratricopeptide repeat domain 38							34	37	36					22																	46669963		2042	4207	6249	SO:0001583	missense	55020						binding	g.chr22:46669963A>G		CCDS43030.1	22q13	2013-01-11			ENSG00000075234	ENSG00000075234		"Tetratricopeptide (TTC) repeat domain containing"	26082	protein-coding gene	gene with protein product							Standard	NM_017931		Approved	FLJ20699	uc003bhi.3	Q5R3I4	OTTHUMG00000150494	ENST00000381031.3:c.362A>G	22.37:g.46669963A>G	ENSP00000370419:p.Asn121Ser					TTC38_ENST00000445282.2_Missense_Mutation_p.N121S	p.N121S	NM_017931.2	NP_060401.2	Q5R3I4	TTC38_HUMAN			4	438	+			121					Q8WV27|Q9NWP8	Missense_Mutation	SNP	ENST00000381031.3	37	c.362A>G	CCDS43030.1	.	.	.	.	.	.	.	.	.	.	A	5.630	0.300929	0.10678	.	.	ENSG00000075234	ENST00000381031;ENST00000445282;ENST00000421359	T;T;T	0.77098	0.87;-1.07;0.03	5.66	4.61	0.57282	Tetratricopeptide-like helical (1);	0.429217	0.28290	N	0.015887	T	0.60971	0.2310	L	0.29908	0.895	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.15052	0.012;0.004	T	0.49194	-0.8965	10	0.09590	T	0.72	-0.0094	6.7502	0.23483	0.7615:0.1554:0.0831:0.0	.	121;121	E7ES35;Q5R3I4	.;TTC38_HUMAN	S	121	ENSP00000370419:N121S;ENSP00000393960:N121S;ENSP00000410095:N121S	ENSP00000370419:N121S	N	+	2	0	TTC38	45048627	0.972000	0.33761	0.997000	0.53966	0.562000	0.35680	1.898000	0.39809	0.944000	0.37579	0.528000	0.53228	AAT		0.632	TTC38-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000318469.1	NM_017931		4	38	0	0	0	1	0	4	38					G	46669963	A	G	46669963	3	3	215	1	0	0	0	0	1	0	0	0	16703	101	4	3	376	3	TTC38	22	46669963	Missense_Mutation	SNP	A	TCGA-EL-A3GU-01A-11D-A21A-08		46669963	4634603	37	4526											
MAGED2	10916	broad.mit.edu	37	chrX	54841926	54841926	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagccaaagcccaagagagTggcagtgccagcactggtgc	13	11	0	1			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chrX:54841926T>C	ENST00000375068.1	+	12	1865	c.1632T>C	c.(1630-1632)agT>agC	p.S544S	MAGED2_ENST00000396224.1_Silent_p.S544S|MAGED2_ENST00000375053.2_Silent_p.S544S|SNORA11_ENST00000408789.1_RNA|MAGED2_ENST00000347546.4_Silent_p.S526S|MAGED2_ENST00000375060.1_Silent_p.S459S|MAGED2_ENST00000375058.1_Silent_p.S544S|MAGED2_ENST00000375062.4_Silent_p.S459S|MAGED2_ENST00000218439.4_Silent_p.S544S			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	544						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						CCCAAGAGAGTGGcagtgcca	0.617																																						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.(1630-1632)agT>agC		melanoma antigen family D, 2							30	25	27					X																	54841926		2196	4296	6492	SO:0001819	synonymous_variant	10916							g.chrX:54841926T>C	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.1632T>C	X.37:g.54841926T>C						MAGED2_ENST00000396224.1_Silent_p.S544S|MAGED2_ENST00000347546.3_Silent_p.S488S|MAGED2_ENST00000218439.4_Silent_p.S544S|MAGED2_ENST00000375053.2_Silent_p.S544S|MAGED2_ENST00000375058.1_Silent_p.S544S|MAGED2_ENST00000375060.1_Silent_p.S459S|MAGED2_ENST00000375062.4_Silent_p.S459S|MAGED2_ENST00000343474.6_Silent_p.S526S	p.S544S			Q9UNF1	MAGD2_HUMAN			12	1865	+			544					A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Silent	SNP	ENST00000375068.1	37	c.1632T>C	CCDS14362.1																																																																																				0.617	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056821.2	NM_014599		4	11	0	0	0	1	0	4	11					C	54841926	T	C	54841926	2	2	215	1	0	0	0	0	0	0	0	1	9184	1693	59	3		3	MAGED2	23	54841926	Silent	SNP	T	TCGA-EL-A3GU-01A-11D-A21A-08		54841926	100428634	38	4527											
NONO	4841	broad.mit.edu	37	chrX	70511735	70511735	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcctcccgacatcactgaGgaagaaatgaggaaactatt	8	10	1	3			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chrX:70511735G>A	ENST00000276079.8	+	4	466	c.261G>A	c.(259-261)gaG>gaA	p.E87E	NONO_ENST00000535149.1_5'UTR|NONO_ENST00000373841.1_Silent_p.E87E|NONO_ENST00000373856.3_Silent_p.E87E	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	87	DBHS.|RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					ACATCACTGAGGAAGAAATGA	0.423			T	TFE3	papillary renal cancer																																	ENST00000276079.8				Dom	yes		X	Xq13.1	4841	T	"non-POU domain containing, octamer-binding"			E	TFE3		papillary renal cancer	NONO/TFE3(2)	0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(259-261)gaG>gaA		non-POU domain containing, octamer-binding							83	79	80					X																	70511735		2203	4297	6500	SO:0001819	synonymous_variant	4841				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding	g.chrX:70511735G>A	L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"RNA binding motif (RRM) containing"	7871	protein-coding gene	gene with protein product	"Nuclear RNA-binding protein, 54-kD", "non-Pou domain-containing octamer (ATGCAAAT) binding protein", "protein phosphatase 1, regulatory subunit 114"	300084	"non-POU-domain-containing, octamer-binding"			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.261G>A	X.37:g.70511735G>A						NONO_ENST00000373841.1_Silent_p.E87E|NONO_ENST00000373856.3_Silent_p.E87E|NONO_ENST00000535149.1_5'UTR	p.E87E	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN			4	466	+	Renal(35;0.156)		87			DBHS.|RRM 1.		B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Silent	SNP	ENST00000276079.8	37	c.261G>A	CCDS14410.1	.	.	.	.	.	.	.	.	.	.	g	8.746	0.920121	0.17982	.	.	ENSG00000147140	ENST00000418921	.	.	.	4.99	3.07	0.35406	.	.	.	.	.	T	0.59224	0.2178	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55528	-0.8127	4	.	.	.	-11.9147	9.5986	0.39589	0.2559:0.0:0.744:0.0	.	.	.	.	K	6	.	.	R	+	2	0	NONO	70428460	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.013000	0.29937	1.101000	0.41535	0.529000	0.55759	AGG		0.423	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1	NM_007363		10	99	0	0	0	1	0	10	99					A	70511735	G	A	70511735	2	1	215	1	0	0	0	0	0	0	0	1	10534	991	35	2		2	NONO	23	70511735	Silent	SNP	G	TCGA-EL-A3GU-01A-11D-A21A-08	15669809	70511735	84758825	39	4528											
C1QA	712	broad.mit.edu	37	chr1	22965379	22965379	+	Frame_Shift_Del	DEL	C	C	-													ttaaaggagaccagggggaaCctgggccctctggaaacccc							TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr1:22965379delC	ENST00000374642.3	+	3	421	c.217delC	c.(217-219)cctfs	p.P73fs	C1QA_ENST00000402322.1_Frame_Shift_Del_p.P73fs	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	73	Collagen-like.				cell-cell signaling (GO:0007267)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCAGGGGGAACCTGGGCCCTC	0.647																																						ENST00000374642.3																			0				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6						c.(217-219)ctfs		complement component 1, q subcomponent, A chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						7	9	8					1																	22965379		2160	4265	6425	SO:0001589	frameshift_variant	712				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22965379delC	AF135157	CCDS226.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173372	ENSG00000173372		"Complement system"	1241	protein-coding gene	gene with protein product		120550	"complement component 1, q subcomponent, alpha polypeptide"			1537612	Standard	NM_015991		Approved		uc001bfy.3	P02745	OTTHUMG00000002893	ENST00000374642.3:c.217delC	1.37:g.22965379delC	ENSP00000363773:p.Pro73fs					C1QA_ENST00000402322.1_Frame_Shift_Del_p.P73fs	p.P73fs	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	3	421	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	73			Collagen-like.		B2R4X2|Q5T963	Frame_Shift_Del	DEL	ENST00000374642.3	37	c.217delC	CCDS226.1																																																																																				0.647	C1QA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008087.2	NM_015991		2	4						2	4	---	---	---	---	-	22965379	C	-	22965379	7	5	216	1	0	1	0	1	0	0	0	0	1954	507	18	0	223	0	C1QA	1	22965379	Frame_Shift_Del	DEL	C	TCGA-EL-A3GV-01A-11D-A21A-08		22965379	226285242	1	4529											
HIST2H2AC	8338	broad.mit.edu	37	chr1	149858724	149858724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgagatcctggagctggCgggcaacgcggctcgggaca	17	13	0	1	rs142055068		TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr1:149858724C>T	ENST00000331380.2	+	1	200	c.200C>T	c.(199-201)gCg>gTg	p.A67V	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	67						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)			CTGGAGCTGGCGGGCAACGCG	0.657																																						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.(199-201)gCg>gTg		histone cluster 2, H2ac		C	VAL/ALA	1,4403	2.1+/-5.4	0,1,2201	45	49	48		200	4.9	1.0	1	dbSNP_134	48	0,8600		0,0,4300	no	missense	HIST2H2AC	NM_003517.2	64	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	67/130	149858724	1,13003	2202	4300	6502	SO:0001583	missense	8338				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149858724C>T	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.200C>T	1.37:g.149858724C>T	ENSP00000332194:p.Ala67Val						p.A67V	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	200	+	Breast(34;0.0124)|all_hematologic(923;0.127)		67					Q6DRA7|Q8IUE5	Missense_Mutation	SNP	ENST00000331380.2	37	c.200C>T	CCDS937.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.254547	0.39896	2.27E-4	0.0	ENSG00000184260	ENST00000331380	D	0.81499	-1.5	5.81	4.89	0.63831	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.44097	D	0.000494	D	0.92273	0.7549	H	0.97758	4.07	0.47547	D	0.999457	D	0.89917	1.0	D	0.76575	0.988	D	0.95078	0.8210	10	0.87932	D	0	.	15.6154	0.76764	0.0:0.8618:0.1382:0.0	.	67	Q16777	H2A2C_HUMAN	V	67	ENSP00000332194:A67V	ENSP00000332194:A67V	A	+	2	0	HIST2H2AC	148125348	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	7.590000	0.82653	1.441000	0.47550	-0.175000	0.13238	GCG		0.657	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1	NM_003517		4	61	0	0	0	1	0	4	61					T	149858724	C	T	149858724	3	4	216	1	0	0	0	0	1	0	0	0	7178	768	27	1	202	1	HIST2H2AC	1	149858724	Missense_Mutation	SNP	C	TCGA-EL-A3GV-01A-11D-A21A-08	126893345	149858724	99391897	2	4530											
RPTN	126638	broad.mit.edu	37	chr1	152128169	152128172	+	Frame_Shift_Del	DEL	TGTC	TGTC	-													tgtagtgggaactctggcctTgtctgtctgtctgaccatag							TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr1:152128169_152128172delTGTC	ENST00000316073.3	-	3	1467_1470	c.1403_1406delGACA	c.(1402-1407)agacaafs	p.RQ468fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	468	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.5																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1402-1407)aafs		repetin																																				SO:0001589	frameshift_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128169_152128172delTGTC	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1403_1406delGACA	1.37:g.152128177_152128180delTGTC	ENSP00000317895:p.Arg468fs						p.RQ468fs	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1467_1470	-			468			Gln-rich.		B7ZBZ3	Frame_Shift_Del	DEL	ENST00000316073.3	37	c.1403_1406delGACA	CCDS41397.1																																																																																				0.5	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		8	1346						8	1346	---	---	---	---	-	152128172	TGTC	-	152128169	7	5	216	1	0	1	0	1	0	0	0	0	13664	1812	63	0	952	0	RPTN	1	152128169	Frame_Shift_Del	DEL	TGTC	TCGA-EL-A3GV-01A-11D-A21A-08	2269445	152128169	97122452	3	4531											
IRAK2	3656	broad.mit.edu	37	chr3	10258686	10258686	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagtttcacagcttcatctAcccctacatggcaaatggtt	6	12	3	0			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr3:10258686A>G	ENST00000256458.4	+	7	947	c.857A>G	c.(856-858)tAc>tGc	p.Y286C	RNU6-814P_ENST00000410416.1_RNA	NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	286	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|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 NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						AGCTTCATCTACCCCTACATG	0.567																																						ENST00000256458.4																			0				breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						c.(856-858)tAc>tGc		interleukin-1 receptor-associated kinase 2							173	141	152					3																	10258686		2203	4300	6503	SO:0001583	missense	3656				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity	g.chr3:10258686A>G	AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.857A>G	3.37:g.10258686A>G	ENSP00000256458:p.Tyr286Cys						p.Y286C	NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN			7	947	+			286			Protein kinase.		B4DQZ6|Q08AG6|Q5K546	Missense_Mutation	SNP	ENST00000256458.4	37	c.857A>G	CCDS33697.1	.	.	.	.	.	.	.	.	.	.	A	18.00	3.526086	0.64860	.	.	ENSG00000134070	ENST00000256458	T	0.36699	1.24	5.59	5.59	0.84812	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.648008	0.14371	N	0.323781	T	0.65565	0.2703	M	0.90483	3.12	0.50313	D	0.999863	D	0.76494	0.999	D	0.66847	0.947	T	0.70432	-0.4873	10	0.87932	D	0	-13.7169	12.1662	0.54131	1.0:0.0:0.0:0.0	.	286	O43187	IRAK2_HUMAN	C	286	ENSP00000256458:Y286C	ENSP00000256458:Y286C	Y	+	2	0	IRAK2	10233686	1.000000	0.71417	0.907000	0.35723	0.799000	0.45148	5.101000	0.64566	2.120000	0.65058	0.459000	0.35465	TAC		0.567	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339623.1			4	141	0	0	0	1	0	4	141					G	10258686	A	G	10258686	3	3	216	1	0	0	0	0	1	0	0	0	7823	391	14	3	883	3	IRAK2	3	10258686	Missense_Mutation	SNP	A	TCGA-EL-A3GV-01A-11D-A21A-08		10258686	187763744	4	4532											
SLC6A20	54716	broad.mit.edu	37	chr3	45812903	45812903	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggccaagtgagaagaagatCtgggtggctgcattgatcca	14	7	1	4			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr3:45812903C>A	ENST00000358525.4	-	6	856	c.741G>T	c.(739-741)caG>caT	p.Q247H	SLC6A20_ENST00000456124.2_Missense_Mutation_p.Q247H|SLC6A20_ENST00000353278.4_Missense_Mutation_p.Q210H	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	247					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		AGAAGAAGATCTGGGTGGCTG	0.587																																						ENST00000358525.4																			0				breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13						c.(739-741)caG>caT		solute carrier family 6 (proline IMINO transporter), member 20							141	119	126					3																	45812903		2203	4300	6503	SO:0001583	missense	54716				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr3:45812903C>A	AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"Solute carriers"	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.741G>T	3.37:g.45812903C>A	ENSP00000346298:p.Gln247His					SLC6A20_ENST00000353278.4_Missense_Mutation_p.Q210H|SLC6A20_ENST00000456124.2_Missense_Mutation_p.Q247H	p.Q247H	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)	6	856	-			247					A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Missense_Mutation	SNP	ENST00000358525.4	37	c.741G>T	CCDS43077.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.910872	0.72983	.	.	ENSG00000163817	ENST00000353278;ENST00000358525;ENST00000456124;ENST00000413781	D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58	5.05	3.24	0.37175	.	0.000000	0.85682	D	0.000000	D	0.91270	0.7248	M	0.92507	3.315	0.47862	D	0.999539	D;D	0.57899	0.976;0.981	D;D	0.69307	0.938;0.963	D	0.91132	0.4938	10	0.87932	D	0	.	8.2403	0.31656	0.0:0.7581:0.0:0.2419	.	210;247	Q9NP91-2;Q9NP91	.;S6A20_HUMAN	H	210;247;247;200	ENSP00000296133:Q210H;ENSP00000346298:Q247H;ENSP00000404310:Q247H;ENSP00000395506:Q200H	ENSP00000296133:Q210H	Q	-	3	2	SLC6A20	45787907	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.075000	0.57584	1.118000	0.41863	0.467000	0.42956	CAG		0.587	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	NM_020208		4	62	1	0	0.00024832	1	0.000266944	4	62					A	45812903	C	A	45812903	3	1	216	1	0	0	0	0	1	0	0	0	14684	912	32	4	1061	4	SLC6A20	3	45812903	Missense_Mutation	SNP	C	TCGA-EL-A3GV-01A-11D-A21A-08	35554217	45812903	152209527	5	4533											
SKIL	6498	broad.mit.edu	37	chr3	170078419	170078419	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catttaagtagtcagagctcGctgggtggaccagcagcatt	12	9	1	1			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr3:170078419G>T	ENST00000458537.3	+	1	1009	c.300G>T	c.(298-300)tcG>tcT	p.S100S	SKIL_ENST00000413427.2_Silent_p.S100S|SKIL_ENST00000426052.2_Silent_p.S80S|SKIL_ENST00000259119.4_Silent_p.S100S	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	100					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GTCAGAGCTCGCTGGGTGGAC	0.463																																						ENST00000458537.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25						c.(298-300)tcG>tcT		SKI-like oncogene							147	153	151					3																	170078419		2203	4300	6503	SO:0001819	synonymous_variant	6498				cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity	g.chr3:170078419G>T	X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"SKI transcriptional corepressors"	10897	protein-coding gene	gene with protein product		165340	"SKI-like oncogene"			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.300G>T	3.37:g.170078419G>T						SKIL_ENST00000426052.2_Silent_p.S80S|SKIL_ENST00000413427.2_Silent_p.S100S|SKIL_ENST00000259119.4_Silent_p.S100S	p.S100S	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		1	1009	+	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		100					A6NGT1|B4DT50|O00464|P12756|Q07501	Silent	SNP	ENST00000458537.3	37	c.300G>T	CCDS33890.1																																																																																				0.463	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352351.4	NM_005414		4	167	1	0	0.150653	1	0.150653	4	167					T	170078419	G	T	170078419	2	4	216	1	0	0	0	0	0	0	0	1	14358	1074	38	4		4	SKIL	3	170078419	Silent	SNP	G	TCGA-EL-A3GV-01A-11D-A21A-08	124265516	170078419	27944011	6	4534											
TDO2	6999	broad.mit.edu	37	chr4	156828925	156828925	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagttggattctgttcgagAgatctttcagaatggccatg	13	6	3	2			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr4:156828925A>C	ENST00000536354.2	+	4	348	c.284A>C	c.(283-285)gAg>gCg	p.E95A		NM_005651.3	NP_005642.1			tryptophan 2,3-dioxygenase											breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)		TCTGTTCGAGAGATCTTTCAG	0.338																																					Colon(57;928 1036 2595 6946 26094)	ENST00000536354.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(283-285)gAg>gCg		tryptophan 2,3-dioxygenase	L-Tryptophan(DB00150)						149	149	149					4																	156828925		2203	4300	6503	SO:0001583	missense	6999				tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity	g.chr4:156828925A>C		CCDS34086.1	4q31-q32	2008-02-05				ENSG00000151790	1.13.11.11		11708	protein-coding gene	gene with protein product		191070					Standard	NM_005651		Approved	TDO, TPH2	uc003ipf.2	P48775		ENST00000536354.2:c.284A>C	4.37:g.156828925A>C	ENSP00000444788:p.Glu95Ala						p.E95A	NM_005651.3	NP_005642.1	P48775	T23O_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	4	348	+	all_hematologic(180;0.24)	Renal(120;0.0854)	95						Missense_Mutation	SNP	ENST00000536354.2	37	c.284A>C	CCDS34086.1	.	.	.	.	.	.	.	.	.	.	A	14.40	2.523090	0.44866	.	.	ENSG00000151790	ENST00000536354	.	.	.	5.98	5.98	0.97165	.	0.243755	0.47093	D	0.000252	T	0.47377	0.1442	L	0.39898	1.24	0.46823	D	0.999217	B	0.18863	0.031	B	0.17979	0.02	T	0.39440	-0.9614	9	0.26408	T	0.33	-18.9772	11.306	0.49336	0.8323:0.0:0.0:0.1677	.	95	P48775	T23O_HUMAN	A	95	.	ENSP00000281525:E95A	E	+	2	0	TDO2	157048375	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.665000	0.68052	2.288000	0.76882	0.528000	0.53228	GAG		0.338	TDO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366209.3	NM_005651		3	73	0	0	0	1	0	3	73					C	156828925	A	C	156828925	3	2	216	1	0	0	0	0	1	0	0	0	15724	304	11	5	298	5	TDO2	4	156828925	Missense_Mutation	SNP	A	TCGA-EL-A3GV-01A-11D-A21A-08		156828925	34325351	7	4535											
TRIML1	339976	broad.mit.edu	37	chr4	189068456	189068456	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggccctcaggcctatcttttCcccctgcctcccaaatgagg	8	17	2	1			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr4:189068456C>A	ENST00000332517.3	+	6	1477	c.1337C>A	c.(1336-1338)tCc>tAc	p.S446Y	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	446	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CCTATCTTTTCCCCCTGCCTC	0.562																																					Melanoma(31;213 1036 16579 23968 32372)	ENST00000332517.3																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(1336-1338)tCc>tAc		tripartite motif family-like 1							70	72	72					4																	189068456		2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189068456C>A	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"RING-type (C3HC4) zinc fingers"	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.1337C>A	4.37:g.189068456C>A	ENSP00000327738:p.Ser446Tyr					TRIML1_ENST00000507581.1_3'UTR	p.S446Y	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	6	1477	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	446			B30.2/SPRY.		Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.1337C>A	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	c	13.30	2.195996	0.38806	.	.	ENSG00000184108	ENST00000332517	T	0.70749	-0.51	5.58	4.73	0.59995	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.51477	D	0.000092	T	0.66025	0.2748	L	0.61218	1.895	0.37068	D	0.898406	B	0.24618	0.107	B	0.26770	0.073	T	0.64630	-0.6362	10	0.12430	T	0.62	-25.2532	13.961	0.64180	0.1529:0.8471:0.0:0.0	.	446	Q8N9V2	TRIML_HUMAN	Y	446	ENSP00000327738:S446Y	ENSP00000327738:S446Y	S	+	2	0	TRIML1	189305450	0.205000	0.23458	0.971000	0.41717	0.012000	0.07955	1.202000	0.32271	1.501000	0.48654	-0.194000	0.12790	TCC		0.562	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		9	94	1	0	0.000978159	1	0.00102587	9	94					A	189068456	C	A	189068456	3	1	216	1	0	0	0	0	1	0	0	0	16547	855	30	4	1359	4	TRIML1	4	189068456	Missense_Mutation	SNP	C	TCGA-EL-A3GV-01A-11D-A21A-08	32239531	189068456	2085820	8	4536											
GMDS	2762	broad.mit.edu	37	chr6	2117711	2117711	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgacttacttccttcaAtgtgagcctggggattctta	8	8	2	2	rs369492511		TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr6:2117711A>G	ENST00000380815.4	-	3	496	c.227T>C	c.(226-228)aTt>aCt	p.I76T	GMDS_ENST00000530927.1_Missense_Mutation_p.I46T	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	76					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		ACTTCCTTCAATGTGAGCCTG	0.373																																						ENST00000380815.4																		GMDS/PDE8B(2)	0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21						c.(226-228)aTt>aCt		GDP-mannose 4,6-dehydratase		A	THR/ILE	0,4406		0,0,2203	128	129	129		227	1.7	1.0	6		129	1,8599	1.2+/-3.3	0,1,4299	no	missense	GMDS	NM_001500.2	89	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	76/373	2117711	1,13005	2203	4300	6503	SO:0001583	missense	2762				'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity	g.chr6:2117711A>G	AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	4369	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 3E, member 1"	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.227T>C	6.37:g.2117711A>G	ENSP00000370194:p.Ile76Thr					GMDS_ENST00000530927.1_Missense_Mutation_p.I46T	p.I76T	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)	3	496	-	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)	76					E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Missense_Mutation	SNP	ENST00000380815.4	37	c.227T>C	CCDS4474.1	.	.	.	.	.	.	.	.	.	.	A	7.364	0.625397	0.14257	0.0	1.16E-4	ENSG00000112699	ENST00000530927;ENST00000380815	.	.	.	5.41	1.7	0.24286	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.238504	0.40908	N	0.000987	T	0.10165	0.0249	N	0.08118	0	0.41904	D	0.990436	B	0.02656	0.0	B	0.11329	0.006	T	0.14420	-1.0473	9	0.12766	T	0.61	-14.6666	6.3923	0.21593	0.7268:0.1335:0.1397:0.0	.	76	O60547	GMDS_HUMAN	T	46;76	.	ENSP00000370194:I76T	I	-	2	0	GMDS	2062710	0.005000	0.15991	0.998000	0.56505	0.995000	0.86356	0.071000	0.14594	0.054000	0.16065	0.533000	0.62120	ATT		0.373	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043380.3			6	68	0	0	0	1	0	6	68					G	2117711	A	G	2117711	3	3	216	1	0	0	0	0	1	0	0	0	6486	101	4	3	927	3	GMDS	6	2117711	Missense_Mutation	SNP	A	TCGA-EL-A3GV-01A-11D-A21A-08		2117711	168997356	9	4537											
UNC93A	54346	broad.mit.edu	37	chr6	167728844	167728844	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaccatggtggcgtatggGcttgtggagtgcgtggagtc	18	7	0	1			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr6:167728844G>A	ENST00000230256.3	+	8	1453	c.1278G>A	c.(1276-1278)ggG>ggA	p.G426G	UNC93A_ENST00000366829.2_Silent_p.G384G	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	426						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TGGCGTATGGGCTTGTGGAGT	0.542																																						ENST00000230256.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40						c.(1276-1278)ggG>ggA		unc-93 homolog A (C. elegans)							219	239	232					6																	167728844		2203	4300	6503	SO:0001819	synonymous_variant	54346					integral to membrane|plasma membrane		g.chr6:167728844G>A	AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"unc93 (C.elegans) homolog A"			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.1278G>A	6.37:g.167728844G>A						UNC93A_ENST00000366829.2_Silent_p.G384G	p.G426G	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	8	1453	+		Breast(66;7.62e-05)|Ovarian(120;0.105)	426					B3KRP5|Q4QQJ4|Q5JZD6	Silent	SNP	ENST00000230256.3	37	c.1278G>A	CCDS5300.1																																																																																				0.542	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974		14	304	0	0	0	1	0	14	304					A	167728844	G	A	167728844	2	1	216	1	0	0	0	0	0	0	0	1	16993	1190	42	2		2	UNC93A	6	167728844	Silent	SNP	G	TCGA-EL-A3GV-01A-11D-A21A-08	165611133	167728844	3386223	10	4538											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		44	37	0	0	0	1	0	44	37					T	140453136	A	T	140453136	3	4	216	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3GV-01A-11D-A21A-08		140453136	18685527	11	4539											
EPB49	2039	broad.mit.edu	37	chr8	21924655	21924655	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gattccagtgtgcctggctcTccctccagcatcgtggtgag	12	13	1	1			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr8:21924655T>G	ENST00000523266.1	+	3	540	c.78T>G	c.(76-78)tcT>tcG	p.S26S	DMTN_ENST00000432128.1_Silent_p.S26S|DMTN_ENST00000415253.1_Silent_p.S26S|DMTN_ENST00000358242.3_Silent_p.S26S|DMTN_ENST00000381470.3_Silent_p.S26S|DMTN_ENST00000265800.5_Silent_p.S26S|DMTN_ENST00000443491.2_Intron|DMTN_ENST00000519907.1_Silent_p.S26S|DMTN_ENST00000523782.2_Intron|DMTN_ENST00000517600.1_Intron	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	26					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)										TGCCTGGCTCTCCCTCCAGCA	0.697																																						ENST00000358242.3																			0											c.(76-78)tcT>tcG		dematin actin binding protein							32	32	32					8																	21924655		2198	4299	6497	SO:0001819	synonymous_variant	2039							g.chr8:21924655T>G	U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"erythrocyte membrane protein band 4.9 (dematin)"	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.78T>G	8.37:g.21924655T>G						DMTN_ENST00000517600.1_Intron|DMTN_ENST00000523782.2_Intron|DMTN_ENST00000415253.1_Silent_p.S26S|DMTN_ENST00000523266.1_Silent_p.S26S|DMTN_ENST00000519907.1_Silent_p.S26S|DMTN_ENST00000432128.1_Silent_p.S26S|DMTN_ENST00000381470.3_Silent_p.S26S|DMTN_ENST00000265800.5_Silent_p.S26S|DMTN_ENST00000443491.2_Intron	p.S26S							3	571	+								A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Silent	SNP	ENST00000523266.1	37	c.78T>G	CCDS6020.1																																																																																				0.697	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375178.1	NM_001978		3	89	0	0	0	1	0	3	89					G	21924655	T	G	21924655	2	3	216	1	0	0	0	0	0	0	0	1	5159	1538	54	5		5	EPB49	8	21924655	Silent	SNP	T	TCGA-EL-A3GV-01A-11D-A21A-08		21924655	124439367	12	4540											
FAM83H	286077	broad.mit.edu	37	chr8	144811136	144811136	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggagccccgcgggcgcaCctgtagctcccactcatcac	12	17	2	0			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr8:144811136C>T	ENST00000388913.3	-	4	863		c.e4+1			NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H						biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CGCGGGCGCACCTGTAGCTCC	0.657																																						ENST00000388913.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21						c.e4+1		family with sequence similarity 83, member H							57	69	65					8																	144811136		2080	4203	6283	SO:0001630	splice_region_variant	286077				biomineral tissue development			g.chr8:144811136C>T	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.737+1G>A	8.37:g.144811136C>T								NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		4	863	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)							A0JLS2|Q8N4W0	Splice_Site	SNP	ENST00000388913.3	37		CCDS6410.2	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335140	0.81801	.	.	ENSG00000180921	ENST00000388913	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0821	0.86601	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM83H	144883124	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.894000	0.69806	2.333000	0.79357	0.555000	0.69702	.		0.657	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488	Intron	4	147	0	0	0	1	0	4	147					T	144811136	C	T	144811136	5	4	216	1	0	0	0	0	0	0	1	0	5640	521	18	2	2809	2	FAM83H	8	144811136	Splice_Site	SNP	C	TCGA-EL-A3GV-01A-11D-A21A-08	122886481	144811136	1552886	13	4541											
KIF27	55582	broad.mit.edu	37	chr9	86474101	86474101	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aacactctaccatttttaagTttttcatccacattgtgtct	3	10	3	0			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr9:86474101T>A	ENST00000297814.2	-	14	3263	c.3120A>T	c.(3118-3120)aaA>aaT	p.K1040N	RP11-575L7.4_ENST00000589233.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.K943N|RP11-575L7.4_ENST00000586211.1_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.K974N|RP11-575L7.4_ENST00000590368.1_RNA|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.4_ENST00000586206.1_RNA|RP11-575L7.4_ENST00000590813.1_RNA|RP11-575L7.4_ENST00000590417.1_RNA|RP11-575L7.4_ENST00000592283.1_RNA|RP11-575L7.4_ENST00000608866.1_RNA|RP11-575L7.4_ENST00000421734.3_RNA|RP11-575L7.4_ENST00000589817.1_RNA	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1040					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CATTTTTAAGTTTTTCATCCA	0.398																																						ENST00000297814.2																			0				breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						c.(3118-3120)aaA>aaT		kinesin family member 27							192	166	175					9																	86474101		2202	4300	6502	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86474101T>A	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"Kinesins"	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.3120A>T	9.37:g.86474101T>A	ENSP00000297814:p.Lys1040Asn					RP11-575L7.4_ENST00000590417.1_RNA|RP11-575L7.4_ENST00000421734.3_RNA|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.4_ENST00000589233.1_RNA|RP11-575L7.4_ENST00000586206.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.K943N|RP11-575L7.4_ENST00000592283.1_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.K974N|RP11-575L7.4_ENST00000589817.1_RNA|RP11-575L7.4_ENST00000586211.1_RNA|RP11-575L7.4_ENST00000590368.1_RNA	p.K1040N	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN			14	3263	-			1040					B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.3120A>T	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	T	14.95	2.688574	0.48097	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.77358	-1.09;-1.03;-0.73	4.5	3.36	0.38483	.	0.101468	0.41001	D	0.000978	D	0.83280	0.5220	M	0.66939	2.045	0.30779	N	0.742158	D;D;D	0.63880	0.992;0.993;0.986	P;D;P	0.70016	0.847;0.967;0.638	T	0.80018	-0.1558	10	0.51188	T	0.08	.	6.9211	0.24389	0.0:0.1827:0.0:0.8172	.	943;974;1040	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	N	1040;974;943	ENSP00000297814:K1040N;ENSP00000401688:K974N;ENSP00000333928:K943N	ENSP00000297814:K1040N	K	-	3	2	KIF27	85663921	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	1.174000	0.31932	0.771000	0.33359	0.402000	0.26972	AAA		0.398	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		4	71	0	0	0	1	0	4	71					A	86474101	T	A	86474101	3	1	216	1	0	0	0	0	1	0	0	0	8296	1722	60	5	1105	5	KIF27	9	86474101	Missense_Mutation	SNP	T	TCGA-EL-A3GV-01A-11D-A21A-08		86474101	54739330	14	4542											
OR1N2	138882	broad.mit.edu	37	chr9	125316381	125316381	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcatttatagcttgaggaaCagagacatgaaggaggcttt	11	5	1	3	rs369499080		TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr9:125316381C>A	ENST00000373688.2	+	1	991	c.933C>A	c.(931-933)aaC>aaA	p.N311K		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						GCTTGAGGAACAGAGACATGA	0.403																																						ENST00000373688.2																			0				breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						c.(931-933)aaC>aaA		olfactory receptor, family 1, subfamily N, member 2							109	110	110					9																	125316381		2203	4300	6503	SO:0001583	missense	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125316381C>A		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"GPCR / Class A : Olfactory receptors"	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.933C>A	9.37:g.125316381C>A	ENSP00000362792:p.Asn311Lys						p.N311K	NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN			1	991	+			311					A3KFM2|B2RNY4|Q6IF17|Q96RA3	Missense_Mutation	SNP	ENST00000373688.2	37	c.933C>A	CCDS35123.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.074526	0.55646	.	.	ENSG00000171501	ENST00000373688	T	0.50001	0.76	4.56	1.68	0.24146	.	0.123171	0.35772	N	0.002985	T	0.73621	0.3610	H	0.96048	3.76	0.34714	D	0.728078	D	0.89917	1.0	D	0.87578	0.998	T	0.78700	-0.2102	10	0.87932	D	0	.	7.5228	0.27637	0.0:0.6463:0.0:0.3537	.	311	Q8NGR9	OR1N2_HUMAN	K	311	ENSP00000362792:N311K	ENSP00000362792:N311K	N	+	3	2	OR1N2	124356202	0.041000	0.20044	0.998000	0.56505	0.998000	0.95712	0.165000	0.16564	0.181000	0.19994	0.644000	0.83932	AAC		0.403	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			4	54	1	0	0.00909568	1	0.00931224	4	54					A	125316381	C	A	125316381	3	1	216	1	0	0	0	0	1	0	0	0	10970	477	17	4	935	4	OR1N2	9	125316381	Missense_Mutation	SNP	C	TCGA-EL-A3GV-01A-11D-A21A-08	38842280	125316381	15897050	15	4543											
FZD10	11211	broad.mit.edu	37	chr12	130647501	130647502	+	Frame_Shift_Ins	INS	-	-	C													gccagcatgcagcgcccgggINScccccgcctgtggctggtcc					rs549279147	byFrequency	TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr12:130647501_130647502insC	ENST00000229030.4	+	1	498_499	c.14_15insC	c.(13-18)ggccccfs	p.GP5fs	FZD10-AS1_ENST00000505807.2_RNA|FZD10_ENST00000539839.1_5'UTR			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	5					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CAGCGCCCGGGCCCCCGCCTGT	0.743																																						ENST00000229030.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35						c.(13-15)gccfs		frizzled family receptor 10																																				SO:0001589	frameshift_variant	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130647501_130647502insC	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"GPCR / Class F : Frizzled receptors", "CD molecules"	4039	protein-coding gene	gene with protein product		606147	"frizzled (Drosophila) homolog 10", "frizzled homolog 10 (Drosophila)", "frizzled 10, seven transmembrane spanning receptor", "frizzled family receptor 10"			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.19dupC	12.37:g.130647506_130647506dupC	ENSP00000229030:p.Gly5fs					FZD10_ENST00000539839.1_5'UTR	p.A5fs			Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	498_499	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		5						Frame_Shift_Ins	INS	ENST00000229030.4	37	c.14_15insC	CCDS9267.1																																																																																				0.743	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				3	6						3	6	---	---	---	---	C	130647502	-	C	130647501	7	5	216	1	0	1	1	0	0	0	0	0	6129	1203	42	0	16	0	FZD10	12	130647501	Frame_Shift_Ins	INS	-	TCGA-EL-A3GV-01A-11D-A21A-08		130647501	3204394	16	4544											
GOLGA5	9950	broad.mit.edu	37	chr14	93303788	93303788	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgcgagtttttgtaattatAtatatggtaagtaaatttat	8	2	0	0			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr14:93303788A>G	ENST00000163416.2	+	12	2365	c.2109A>G	c.(2107-2109)atA>atG	p.I703M	GOLGA5_ENST00000355976.2_Intron	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	703					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		TTGTAATTATATATATGGTAA	0.353			T	RET	papillary thyroid																																	ENST00000163416.2				Dom	yes		14	14q	9950	T	"golgi autoantigen, golgin subfamily a, 5  (PTC5)"			E	RET		papillary thyroid		0				large_intestine(6)|lung(1)|ovary(2)	9						c.(2107-2109)atA>atG		golgin A5							80	92	88					14																	93303788		2203	4300	6503	SO:0001583	missense	9950				Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding	g.chr14:93303788A>G	AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"golgi integral membrane protein 5"	606918	"golgi autoantigen, golgin subfamily a, 5"			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.2109A>G	14.37:g.93303788A>G	ENSP00000163416:p.Ile703Met					GOLGA5_ENST00000355976.2_Intron	p.I703M	NM_005113.2	NP_005104.2	Q8TBA6	GOGA5_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	12	2365	+		all_cancers(154;0.0934)	703					C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Missense_Mutation	SNP	ENST00000163416.2	37	c.2109A>G	CCDS9905.1	.	.	.	.	.	.	.	.	.	.	A	16.43	3.119798	0.56613	.	.	ENSG00000066455	ENST00000163416;ENST00000439315	T	0.48201	0.82	5.4	1.57	0.23409	.	0.000000	0.51477	D	0.000099	T	0.58293	0.2112	M	0.70275	2.135	0.80722	D	1	D	0.57899	0.981	P	0.62298	0.9	T	0.55173	-0.8182	10	0.66056	D	0.02	-14.5298	6.252	0.20852	0.3641:0.402:0.0:0.2339	.	703	Q8TBA6	GOGA5_HUMAN	M	703;612	ENSP00000163416:I703M	ENSP00000163416:I703M	I	+	3	3	GOLGA5	92373541	0.983000	0.35010	0.996000	0.52242	0.995000	0.86356	0.155000	0.16362	0.014000	0.14944	0.528000	0.53228	ATA		0.353	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1			11	155	0	0	0	1	0	11	155					G	93303788	A	G	93303788	3	3	216	1	0	0	0	0	1	0	0	0	6556	439	16	3	2151	3	GOLGA5	14	93303788	Missense_Mutation	SNP	A	TCGA-EL-A3GV-01A-11D-A21A-08		93303788	14045752	17	4545											
SLC28A2	9153	broad.mit.edu	37	chr15	45545719	45545719	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggcccttccacttaccagagGtactggtgttttggaatctt	10	10	1	1			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr15:45545719G>C	ENST00000347644.3	+	3	235		c.e3+1		CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000559003.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2						nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	CTTACCAGAGGTACTGGTGTT	0.522																																					NSCLC(92;493 1501 26361 28917 47116)	ENST00000347644.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26						c.e3+1		solute carrier family 28 (concentrative nucleoside transporter), member 2							64	60	61					15																	45545719		2198	4298	6496	SO:0001630	splice_region_variant	9153				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity	g.chr15:45545719G>C	U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"Solute carriers"	11002	protein-coding gene	gene with protein product		606208	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.170+1G>C	15.37:g.45545719G>C						CTD-2651B20.3_ENST00000559003.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA		NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	3	235	+		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)						A8K7F9|O43239|Q52LZ0	Splice_Site	SNP	ENST00000347644.3	37		CCDS10121.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.959677	0.34565	.	.	ENSG00000137860	ENST00000347644	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.177	0.59633	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC28A2	43333011	0.995000	0.38212	0.711000	0.30485	0.008000	0.06430	3.525000	0.53502	2.472000	0.83506	0.462000	0.41574	.		0.522	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254219.2	NM_004212	Intron	3	17	0	0	0	1	0	3	17					C	45545719	G	C	45545719	5	2	216	1	0	0	0	0	0	0	1	0	14532	1275	44	4	177	4	SLC28A2	15	45545719	Splice_Site	SNP	G	TCGA-EL-A3GV-01A-11D-A21A-08		45545719	56985673	18	4546											
CNGB1	1258	broad.mit.edu	37	chr16	57938657	57938657	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgtccgatcatcacagagAaagcaaagacgcccgtgaaa	9	12	2	3			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr16:57938657A>G	ENST00000251102.8	-	26	2675	c.2615T>C	c.(2614-2616)tTc>tCc	p.F872S	CNGB1_ENST00000564448.1_Missense_Mutation_p.F866S	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	872					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CATCACAGAGAAAGCAAAGAC	0.567																																					Colon(156;1293 1853 16336 28962 38659)	ENST00000564448.1																			0				breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(2596-2598)tTc>tCc		cyclic nucleotide gated channel beta 1							104	112	110					16																	57938657		1879	4089	5968	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57938657A>G	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2151	protein-coding gene	gene with protein product	"glutamic acid-rich protein"	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.2615T>C	16.37:g.57938657A>G	ENSP00000251102:p.Phe872Ser					CNGB1_ENST00000251102.8_Missense_Mutation_p.F872S	p.F866S			Q14028	CNGB1_HUMAN			26	2657	-			872					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.2597T>C	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.606081	0.87157	.	.	ENSG00000070729	ENST00000251102	D	0.97870	-4.58	5.06	5.06	0.68205	.	0.059725	0.64402	D	0.000002	D	0.98670	0.9554	M	0.86953	2.85	0.80722	D	1	D;P	0.65815	0.995;0.879	D;P	0.69654	0.965;0.695	D	0.99585	1.0974	10	0.66056	D	0.02	.	14.3064	0.66386	1.0:0.0:0.0:0.0	.	244;872	Q14028-2;Q14028	.;CNGB1_HUMAN	S	872	ENSP00000251102:F872S	ENSP00000251102:F872S	F	-	2	0	CNGB1	56496158	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.336000	0.96533	2.037000	0.60232	0.533000	0.62120	TTC		0.567	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		7	158	0	0	0	1	0	7	158					G	57938657	A	G	57938657	3	3	216	1	0	0	0	0	1	0	0	0	3600	246	9	3	1172	3	CNGB1	16	57938657	Missense_Mutation	SNP	A	TCGA-EL-A3GV-01A-11D-A21A-08		57938657	32416096	19	4547											
MYO15A	51168	broad.mit.edu	37	chr17	18022790	18022790	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgcaagtcgctgtacgggCttgagggcttccaggacctg	14	13	0	1			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr17:18022790C>T	ENST00000205890.5	+	2	1014	c.676C>T	c.(676-678)Ctt>Ttt	p.L226F		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	226					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCTGTACGGGCTTGAGGGCTT	0.642																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(676-678)Ctt>Ttt		myosin XVA							38	42	41					17																	18022790		2076	4200	6276	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18022790C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.676C>T	17.37:g.18022790C>T	ENSP00000205890:p.Leu226Phe						p.L226F	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	1014	+	all_neural(463;0.228)		226			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.676C>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100148	0.56183	.	.	ENSG00000091536	ENST00000205890	D	0.90732	-2.72	5.52	4.54	0.55810	.	.	.	.	.	D	0.90669	0.7073	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	D	0.88794	0.3280	9	0.33940	T	0.23	.	12.616	0.56578	0.0:0.9168:0.0:0.0832	.	226	Q9UKN7	MYO15_HUMAN	F	226	ENSP00000205890:L226F	ENSP00000205890:L226F	L	+	1	0	MYO15A	17963515	0.745000	0.28261	0.976000	0.42696	0.582000	0.36321	1.857000	0.39399	2.584000	0.87258	0.555000	0.69702	CTT		0.642	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		5	65	0	0	0	1	0	5	65					T	18022790	C	T	18022790	3	4	216	1	0	0	0	0	1	0	0	0	10063	797	28	2	678	2	MYO15A	17	18022790	Missense_Mutation	SNP	C	TCGA-EL-A3GV-01A-11D-A21A-08		18022790	63172420	20	4548											
NF1	4763	broad.mit.edu	37	chr17	29588854	29588854	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttaaccttaccagttcaaAgtttgaggaatttatgacta	6	8	1	2			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr17:29588854A>G	ENST00000358273.4	+	35	5086	c.4703A>G	c.(4702-4704)aAg>aGg	p.K1568R	NF1_ENST00000356175.3_Missense_Mutation_p.K1547R	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1568					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACCAGTTCAAAGTTTGAGGAA	0.428			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(4702-4704)aAg>aGg		neurofibromin 1							76	70	72					17																	29588854		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29588854A>G		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4703A>G	17.37:g.29588854A>G	ENSP00000351015:p.Lys1568Arg	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Missense_Mutation_p.K1547R	p.K1568R	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	35	5086	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1568					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.4703A>G	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	A	13.47	2.247929	0.39697	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.08984	3.18;3.33;3.03	5.83	5.83	0.93111	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.13243	0.0321	N	0.11870	0.19	0.80722	D	1	B;D;B	0.56035	0.004;0.974;0.013	B;D;B	0.70487	0.002;0.969;0.014	T	0.44050	-0.9353	10	0.14656	T	0.56	.	16.1946	0.82018	1.0:0.0:0.0:0.0	.	597;1547;1568	Q59FX3;P21359-2;P21359	.;.;NF1_HUMAN	R	1568;1547;1213	ENSP00000351015:K1568R;ENSP00000348498:K1547R;ENSP00000389907:K1213R	ENSP00000348498:K1547R	K	+	2	0	NF1	26612980	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.697000	0.91307	2.228000	0.72767	0.528000	0.53228	AAG		0.428	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		4	55	0	0	0	1	0	4	55					G	29588854	A	G	29588854	3	3	216	1	0	0	0	0	1	0	0	0	10356	72	3	3	4902	3	NF1	17	29588854	Missense_Mutation	SNP	A	TCGA-EL-A3GV-01A-11D-A21A-08	11566064	29588854	51606356	21	4549											
LRRC30	339291	broad.mit.edu	37	chr18	7231664	7231664	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagcaacaacttcttcgcGcacatccccatgtgtgtgtt	7	14	2	0			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr18:7231664G>A	ENST00000383467.2	+	1	542	c.528G>A	c.(526-528)gcG>gcA	p.A176A		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	176								p.A176A(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						ACTTCTTCGCGCACATCCCCA	0.552																																						ENST00000383467.2																			1	Substitution - coding silent(1)	p.A176A(1)	large_intestine(1)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(526-528)gcG>gcA		leucine rich repeat containing 30							96	103	100					18																	7231664		2112	4226	6338	SO:0001819	synonymous_variant	339291							g.chr18:7231664G>A		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.528G>A	18.37:g.7231664G>A							p.A176A	NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN			1	542	+			176						Silent	SNP	ENST00000383467.2	37	c.528G>A	CCDS42409.1																																																																																				0.552	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678		8	133	0	0	0	1	0	8	133					A	7231664	G	A	7231664	2	1	216	1	0	0	0	0	0	0	0	1	8985	1074	38	1		1	LRRC30	18	7231664	Silent	SNP	G	TCGA-EL-A3GV-01A-11D-A21A-08		7231664	70845584	22	4550											
CEP192	55125	broad.mit.edu	37	chr18	13042296	13042296	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacttcacaagtggatgaaaAtgatgtgacgttaacggctg	11	6	1	3			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr18:13042296A>G	ENST00000325971.8	+	13	1835	c.242A>G	c.(241-243)aAt>aGt	p.N81S	CEP192_ENST00000506447.1_Missense_Mutation_p.N677S|CEP192_ENST00000430049.2_Missense_Mutation_p.N202S			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	81					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						GTGGATGAAAATGATGTGACG	0.403																																						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.(2029-2031)aAt>aGt		centrosomal protein 192kDa							98	86	90					18																	13042296		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13042296A>G	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.242A>G	18.37:g.13042296A>G	ENSP00000317156:p.Asn81Ser					CEP192_ENST00000430049.2_Missense_Mutation_p.N202S|CEP192_ENST00000325971.8_Missense_Mutation_p.N81S	p.N677S	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			15	2110	+			272					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.2030A>G		.	.	.	.	.	.	.	.	.	.	A	0.358	-0.940805	0.02322	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.06849	3.26;3.25;3.26	4.43	-3.99	0.04069	.	1.332350	0.05166	N	0.498825	T	0.04048	0.0113	N	0.08118	0	0.09310	N	1	B;B;B	0.09022	0.0;0.0;0.002	B;B;B	0.13407	0.0;0.001;0.009	T	0.46247	-0.9205	10	0.06625	T	0.88	-1.2743	11.8515	0.52413	0.3325:0.0:0.6675:0.0	.	202;677;81	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	S	677;81;81;202	ENSP00000427550:N677S;ENSP00000317156:N81S;ENSP00000389190:N202S	ENSP00000317156:N81S	N	+	2	0	CEP192	13032296	0.357000	0.24938	0.034000	0.17996	0.018000	0.09664	-0.255000	0.08769	-0.862000	0.04089	-0.379000	0.06801	AAT		0.403	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		5	67	0	0	0	1	0	5	67					G	13042296	A	G	13042296	3	3	216	1	0	0	0	0	1	0	0	0	3251	101	4	3	2084	3	CEP192	18	13042296	Missense_Mutation	SNP	A	TCGA-EL-A3GV-01A-11D-A21A-08	5810632	13042296	65034952	23	4551											
SAMD1	646457	broad.mit.edu	37	chr19	14199324	14199324	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcagggctggcccgaggcGgatggacaggccggtgagca	18	10	1	1			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr19:14199324G>A	ENST00000548523.1	-	0	0				SAMD1_ENST00000533683.2_Missense_Mutation_p.R402C|C19orf67_ENST00000547589.1_5'Flank|SAMD1_ENST00000541938.1_5'Flank	NM_001277378.1	NP_001264307.1	A6NJJ6	CS067_HUMAN	chromosome 19 open reading frame 67											central_nervous_system(1)	1						GGCCCGAGGCGGATGGACAGG	0.577																																						ENST00000533683.2																			0				endometrium(3)	3						c.(1204-1206)Cgc>Tgc		sterile alpha motif domain containing 1							58	64	62					19																	14199324		2043	4169	6212	SO:0001631	upstream_gene_variant	90378					cytoplasm|extracellular region		g.chr19:14199324G>A		CCDS59360.1	19p13.12	2008-07-02			ENSG00000188032	ENSG00000188032			34354	protein-coding gene	gene with protein product							Standard	NM_001277378		Approved		uc031rjr.1	A6NJJ6			19.37:g.14199324G>A	Exception_encountered						p.R402C	NM_138352.1	NP_612361.1	Q6SPF0	SAMD1_HUMAN		GBM - Glioblastoma multiforme(1328;0.000411)|STAD - Stomach adenocarcinoma(1328;0.00644)|Lung(535;0.199)	5	1491	-		Renal(1328;0.00183)|Hepatocellular(1079;0.00826)	508						Missense_Mutation	SNP	ENST00000548523.1	37	c.1204C>T	CCDS59360.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502359	0.44455	.	.	ENSG00000141858	ENST00000533683;ENST00000269724	T;T	0.50813	0.73;0.73	4.48	2.34	0.29019	.	0.000000	0.64402	D	0.000001	T	0.53722	0.1814	L	0.40543	1.245	0.48696	D	0.999691	D	0.89917	1.0	D	0.83275	0.996	T	0.52351	-0.8587	10	0.87932	D	0	-9.0353	6.5325	0.22334	0.2208:0.0:0.7792:0.0	.	402	E9PIW9	.	C	402;102	ENSP00000431971:R402C;ENSP00000269724:R102C	ENSP00000269724:R102C	R	-	1	0	SAMD1	14060324	1.000000	0.71417	0.999000	0.59377	0.504000	0.33889	2.551000	0.45820	0.511000	0.28236	0.557000	0.71058	CGC		0.577	C19orf67-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403368.1	XM_929382		3	35	0	0	0	1	0	3	35					A	14199324	G	A	14199324	1	1	216	0	1	0	0	0	0	0	0	0	13814	1116	39	1		1	SAMD1	19	14199324	5'Flank	SNP	G	TCGA-EL-A3GV-01A-11D-A21A-08		14199324	44929659	24	4552											
RYR1	6261	broad.mit.edu	37	chr19	38976750	38976750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggatgctgggggaggcgGtgcgcgacggtgggcagcac	22	8	0	1			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr19:38976750G>A	ENST00000359596.3	+	34	5455	c.5455G>A	c.(5455-5457)Gtg>Atg	p.V1819M	RYR1_ENST00000360985.3_Missense_Mutation_p.V1819M|RYR1_ENST00000355481.4_Missense_Mutation_p.V1819M			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1819	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGGGGAGGCGGTGCGCGACGG	0.706																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(5455-5457)Gtg>Atg		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						57	55	56					19																	38976750		2201	4293	6494	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38976750G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5455G>A	19.37:g.38976750G>A	ENSP00000352608:p.Val1819Met					RYR1_ENST00000359596.3_Missense_Mutation_p.V1819M|RYR1_ENST00000360985.3_Missense_Mutation_p.V1819M	p.V1819M	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		34	5586	+	all_cancers(60;7.91e-06)		1819			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.5455G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362717	0.61403	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.75050	-0.9;-0.9;-0.9	3.7	3.7	0.42460	.	0.000000	0.56097	U	0.000025	D	0.84933	0.5582	M	0.73962	2.25	0.48830	D	0.999717	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.995	D	0.86575	0.1850	10	0.52906	T	0.07	.	15.2171	0.73277	0.0:0.0:1.0:0.0	.	1819;1819	P21817-2;P21817	.;RYR1_HUMAN	M	1819	ENSP00000352608:V1819M;ENSP00000347667:V1819M;ENSP00000354254:V1819M	ENSP00000347667:V1819M	V	+	1	0	RYR1	43668590	1.000000	0.71417	0.961000	0.40146	0.880000	0.50808	9.556000	0.98127	1.886000	0.54624	0.585000	0.79938	GTG		0.706	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			4	123	0	0	0	1	0	4	123					A	38976750	G	A	38976750	3	1	216	1	0	0	0	0	1	0	0	0	13768	1261	44	2	5589	2	RYR1	19	38976750	Missense_Mutation	SNP	G	TCGA-EL-A3GV-01A-11D-A21A-08	24777426	38976750	20152233	25	4553											
BRSK1	84446	broad.mit.edu	37	chr19	55798597	55798597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggtggagcgggagatcGccatcctgaagctcatcgaa	13	11	2	2			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr19:55798597G>A	ENST00000309383.1	+	3	524	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	BRSK1_ENST00000590333.1_Missense_Mutation_p.A99T|BRSK1_ENST00000585418.1_Missense_Mutation_p.A83T	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	83	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GCGGGAGATCGCCATCCTGAA	0.607																																						ENST00000309383.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48						c.(247-249)Gcc>Acc		BR serine/threonine kinase 1							145	130	135					19																	55798597		2203	4300	6503	SO:0001583	missense	84446				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55798597G>A	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.247G>A	19.37:g.55798597G>A	ENSP00000310649:p.Ala83Thr					BRSK1_ENST00000590333.1_Missense_Mutation_p.A99T|BRSK1_ENST00000585418.1_Missense_Mutation_p.A83T	p.A83T	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	3	524	+		Renal(1328;0.245)	83			Protein kinase.		F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	c.247G>A	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	24.0	4.477996	0.84747	.	.	ENSG00000160469	ENST00000309383	T	0.66099	-0.19	4.5	4.5	0.54988	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	0.64402	D	0.000001	T	0.64875	0.2638	N	0.17872	0.535	0.80722	D	1	D;D	0.64830	0.994;0.992	P;P	0.62491	0.903;0.843	T	0.69003	-0.5260	10	0.52906	T	0.07	.	16.8544	0.86002	0.0:0.0:1.0:0.0	.	83;99	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	T	83	ENSP00000310649:A83T	ENSP00000310649:A83T	A	+	1	0	BRSK1	60490409	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.274000	0.95731	2.444000	0.82710	0.500000	0.49745	GCC		0.607	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		4	168	0	0	0	1	0	4	168					A	55798597	G	A	55798597	3	1	216	1	0	0	0	0	1	0	0	0	1523	1087	38	1	257	1	BRSK1	19	55798597	Missense_Mutation	SNP	G	TCGA-EL-A3GV-01A-11D-A21A-08	16821847	55798597	3330386	26	4554											
ZNF543	125919	broad.mit.edu	37	chr19	57835056	57835056	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtttaattttccaggtgtctGtgacctttgaggatgtggct	12	6	1	2	rs540048310	byFrequency	TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr19:57835056G>T	ENST00000321545.4	+	2	370	c.25G>T	c.(25-27)Gtg>Ttg	p.V9L		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	9	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)			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		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;0.0257)		CCAGGTGTCTGTGACCTTTGA	0.488													g|||	2	0.000399361	0	0	5008	,	,		19727	0.002		0	False		,,,				2504	0					ENST00000321545.4																			0				breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28						c.(25-27)Gtg>Ttg		zinc finger protein 543							156	144	148					19																	57835056		2203	4300	6503	SO:0001583	missense	125919				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57835056G>T	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"Zinc fingers, C2H2-type", "-"	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.25G>T	19.37:g.57835056G>T	ENSP00000322545:p.Val9Leu						p.V9L	NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	2	370	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	9			KRAB.		Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	37	c.25G>T	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.429353	0.25726	.	.	ENSG00000178229	ENST00000321545	T	0.04862	3.54	1.68	0.608	0.17569	Krueppel-associated box (4);	.	.	.	.	T	0.05502	0.0145	L	0.45470	1.425	0.09310	N	0.999991	P	0.41475	0.751	B	0.36719	0.231	T	0.35773	-0.9775	9	0.36615	T	0.2	.	5.31	0.15825	0.3266:0.0:0.6734:0.0	.	9	Q08ER8	ZN543_HUMAN	L	9	ENSP00000322545:V9L	ENSP00000322545:V9L	V	+	1	0	ZNF543	62526868	0.626000	0.27120	0.083000	0.20561	0.890000	0.51754	0.936000	0.28938	0.258000	0.21686	0.467000	0.42956	GTG		0.488	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		4	154	1	0	1.23904e-05	1	1.36612e-05	4	154					T	57835056	G	T	57835056	3	4	216	1	0	0	0	0	1	0	0	0	17973	1377	48	4	31	4	ZNF543	19	57835056	Missense_Mutation	SNP	G	TCGA-EL-A3GV-01A-11D-A21A-08	2036459	57835056	1293927	27	4555											
ARSF	416	broad.mit.edu	37	chrX	3002560	3002560	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catgattctgtttattttccTcttgggctatgcttggttct	8	8	3	1			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chrX:3002560T>A	ENST00000381127.1	+	6	904	c.683T>A	c.(682-684)cTc>cAc	p.L228H	ARSF_ENST00000359361.2_Missense_Mutation_p.L228H|ARSF_ENST00000537104.1_Missense_Mutation_p.L228H	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	228					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		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)				TTTATTTTCCTCTTGGGCTAT	0.547																																						ENST00000381127.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38						c.(682-684)cTc>cAc		arylsulfatase F							138	115	123					X																	3002560		2203	4300	6503	SO:0001583	missense	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:3002560T>A	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"Arylsulfatase family"	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.683T>A	X.37:g.3002560T>A	ENSP00000370519:p.Leu228His					ARSF_ENST00000359361.2_Missense_Mutation_p.L228H|ARSF_ENST00000537104.1_Missense_Mutation_p.L228H	p.L228H	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN			6	904	+		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)	228					Q8TCC5	Missense_Mutation	SNP	ENST00000381127.1	37	c.683T>A	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	T	13.04	2.119249	0.37436	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.94280	-3.39;-3.39;-3.39	3.44	2.16	0.27623	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.399027	0.17976	U	0.155702	D	0.95993	0.8695	M	0.90814	3.15	0.09310	N	1	D	0.65815	0.995	D	0.64776	0.929	D	0.88851	0.3319	10	0.33141	T	0.24	.	8.2243	0.31560	0.1801:0.0:0.0:0.8199	.	228	P54793	ARSF_HUMAN	H	228	ENSP00000370519:L228H;ENSP00000445594:L228H;ENSP00000352319:L228H	ENSP00000352319:L228H	L	+	2	0	ARSF	3012560	0.033000	0.19621	0.003000	0.11579	0.003000	0.03518	2.471000	0.45127	1.081000	0.41110	0.438000	0.28831	CTC		0.547	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			9	90	0	0	0	1	0	9	90					A	3002560	T	A	3002560	3	1	216	1	0	0	0	0	1	0	0	0	991	1551	54	5	701	5	ARSF	23	3002560	Missense_Mutation	SNP	T	TCGA-EL-A3GV-01A-11D-A21A-08		3002560	152268000	28	4556											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	9	17	2	0	rs145580328		TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51	56	55					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		5	125	0	0	0	1	0	5	125					G	37028425	A	G	37028425	3	3	216	1	0	0	0	0	1	0	0	0	5571	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-EL-A3GV-01A-11D-A21A-08	34025865	37028425	118242135	29	4557											
ATRX	546	broad.mit.edu	37	chrX	76939853	76939853	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actcttttcactgtcaacttTtatcttcttcttattttgct	2	10	6	0			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chrX:76939853T>C	ENST00000373344.5	-	9	1109	c.895A>G	c.(895-897)Aaa>Gaa	p.K299E	ATRX_ENST00000395603.3_Missense_Mutation_p.K261E|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	299					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CTGTCAACTTTTATCTTCTTC	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(895-897)Aaa>Gaa		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						127	118	121					X																	76939853		2203	4295	6498	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939853T>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.895A>G	X.37:g.76939853T>C	ENSP00000362441:p.Lys299Glu					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.K261E	p.K299E	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1109	-			299					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.895A>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	t	13.57	2.275325	0.40194	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.96396	-4.0;-4.0	5.5	5.5	0.81552	.	0.057962	0.64402	D	0.000002	D	0.97028	0.9029	L	0.49640	1.575	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.998;0.998	D;D;D;D	0.78314	0.98;0.98;0.991;0.986	D	0.96474	0.9351	10	0.33940	T	0.23	-17.1041	14.6147	0.68539	0.0:0.0:0.0:1.0	.	299;260;261;299	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	E	299;261;255	ENSP00000362441:K299E;ENSP00000378967:K261E	ENSP00000362441:K299E	K	-	1	0	ATRX	76826509	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.482000	0.53186	1.832000	0.53329	0.409000	0.27619	AAA		0.338	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		6	59	0	0	0	1	0	6	59					C	76939853	T	C	76939853	3	2	216	1	0	0	0	0	1	0	0	0	1208	1850	64	3	6691	3	ATRX	23	76939853	Missense_Mutation	SNP	T	TCGA-EL-A3GV-01A-11D-A21A-08	39911428	76939853	78330707	30	4558											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290	byFrequency	TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		neuroblastoma RAS viral (v-ras) oncogene homolog							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		80	85	0	0	0	0.139131	0	80	85					C	115256529	T	C	115256529	3	2	217	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-EL-A3GW-01A-11D-A202-08		115256529	133994092	1	4559											
SCN2A	6326	broad.mit.edu	37	chr2	166231282	166231282	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttggctaatattcagtatcAtgggagtgaatctctttgct	9	6	3	1			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr2:166231282A>G	ENST00000375437.2	+	22	4350	c.4060A>G	c.(4060-4062)Atg>Gtg	p.M1354V	SCN2A_ENST00000357398.3_Missense_Mutation_p.M1354V|SCN2A_ENST00000283256.6_Missense_Mutation_p.M1354V|SCN2A_ENST00000375427.2_Missense_Mutation_p.M1354V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1354					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATTCAGTATCATGGGAGTGAA	0.398																																						ENST00000375437.2																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(4060-4062)Atg>Gtg		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						166	156	159					2																	166231282		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166231282A>G	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.4060A>G	2.37:g.166231282A>G	ENSP00000364586:p.Met1354Val					SCN2A_ENST00000357398.3_Missense_Mutation_p.M1354V|SCN2A_ENST00000375427.2_Missense_Mutation_p.M1354V|SCN2A_ENST00000283256.6_Missense_Mutation_p.M1354V	p.M1354V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN			22	4350	+			1354					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.4060A>G	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	A	18.30	3.594273	0.66219	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.98264	-4.83;-4.83;-4.83;-4.83	4.41	4.41	0.53225	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98298	0.9436	L	0.50919	1.6	0.54753	D	0.999989	P;P	0.49358	0.923;0.913	P;D	0.73708	0.591;0.981	D	0.99170	1.0864	10	0.59425	D	0.04	.	13.9571	0.64155	1.0:0.0:0.0:0.0	.	1354;1354	Q99250-2;Q99250	.;SCN2A_HUMAN	V	1354	ENSP00000364586:M1354V;ENSP00000349973:M1354V;ENSP00000283256:M1354V;ENSP00000364576:M1354V	ENSP00000283256:M1354V	M	+	1	0	SCN2A	165939528	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	9.287000	0.95975	1.751000	0.51876	0.383000	0.25322	ATG		0.398	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		3	84	0	0	0	0.115264	0	3	84					G	166231282	A	G	166231282	3	3	217	1	0	0	0	0	1	0	0	0	13916	217	8	3	4238	3	SCN2A	2	166231282	Missense_Mutation	SNP	A	TCGA-EL-A3GW-01A-11D-A202-08		166231282	76968091	2	4560											
MAPKAPK3	7867	broad.mit.edu	37	chr3	50679702	50679702	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagctgcagagataatgcGggatattggcactgccatcc	12	9	0	2			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr3:50679702G>A	ENST00000446044.1	+	7	1039	c.443G>A	c.(442-444)cGg>cAg	p.R148Q	MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.R148Q	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	148	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|innate immune response (GO:0045087)|macropinocytosis (GO:0044351)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|Ras protein signal transduction (GO:0007265)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		GAGATAATGCGGGATATTGGC	0.562																																						ENST00000446044.1																			0				central_nervous_system(1)|ovary(1)	2						c.(442-444)cGg>cAg		mitogen-activated protein kinase-activated protein kinase 3							83	78	80					3																	50679702		2203	4300	6503	SO:0001583	missense	7867				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity	g.chr3:50679702G>A	U43784	CCDS2832.1	3p21.3	2004-03-10			ENSG00000114738	ENSG00000114738			6888	protein-coding gene	gene with protein product		602130				8626550, 8622688	Standard	NM_004635		Approved	3pK, MAPKAP3, 3PK	uc003dba.2	Q16644	OTTHUMG00000156850	ENST00000446044.1:c.443G>A	3.37:g.50679702G>A	ENSP00000396467:p.Arg148Gln					MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.R148Q	p.R148Q	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)	7	1039	+			148			Protein kinase.		B5BU67	Missense_Mutation	SNP	ENST00000446044.1	37	c.443G>A	CCDS2832.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.636002	0.87760	.	.	ENSG00000114738	ENST00000446044;ENST00000430409;ENST00000357955	T;T;T	0.51817	0.69;0.69;0.69	5.41	4.53	0.55603	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.174930	0.46145	D	0.000316	T	0.51092	0.1654	L	0.39397	1.21	0.47659	D	0.999484	D	0.55800	0.973	P	0.51918	0.684	T	0.55642	-0.8109	10	0.72032	D	0.01	-33.135	15.1711	0.72875	0.0:0.0:0.8574:0.1425	.	148	Q16644	MAPK3_HUMAN	Q	148	ENSP00000396467:R148Q;ENSP00000410970:R148Q;ENSP00000350639:R148Q	ENSP00000350639:R148Q	R	+	2	0	MAPKAPK3	50654706	1.000000	0.71417	0.992000	0.48379	0.863000	0.49368	3.174000	0.50847	1.273000	0.44346	0.491000	0.48974	CGG		0.562	MAPKAPK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346237.1	NM_004635		8	60	0	0	0	0.047766	0	8	60					A	50679702	G	A	50679702	3	1	217	1	0	0	0	0	1	0	0	0	9290	1116	39	1	457	1	MAPKAPK3	3	50679702	Missense_Mutation	SNP	G	TCGA-EL-A3GW-01A-11D-A202-08		50679702	147342728	3	4561											
PCDHB16	57717	broad.mit.edu	37	chr5	140563836	140563836	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtacccgctgcagaacGgctccgcgccctgcactgag	12	16	0	2	rs535302272	byFrequency	TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr5:140563836G>A	ENST00000361016.2	+	1	2857	c.1702G>A	c.(1702-1704)Ggc>Agc	p.G568S		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	568	Cadherin 6. {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)			GCTGCAGAACGGCTCCGCGCC	0.711													G|||	2	0.000399361	8e-04	0	5008	,	,		13663	0		0	False		,,,				2504	0.001					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.(1702-1704)Ggc>Agc									14	17	16					5																	140563836		1969	3923	5892	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140563836G>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.1702G>A	5.37:g.140563836G>A	ENSP00000354293:p.Gly568Ser						p.G568S	NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2857	+			568			Cadherin 6.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.1702G>A	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	g	12.66	2.005258	0.35415	.	.	ENSG00000196963	ENST00000361016	T	0.60797	0.16	4.12	2.28	0.28536	Cadherin (1);Cadherin-like (1);	1.832600	0.03875	N	0.276324	T	0.41719	0.1171	N	0.20807	0.61	0.09310	N	1	B	0.22003	0.063	B	0.17979	0.02	T	0.27123	-1.0083	10	0.45353	T	0.12	.	3.1416	0.06457	0.2646:0.0:0.4112:0.3242	.	568	Q9NRJ7	PCDBG_HUMAN	S	568	ENSP00000354293:G568S	ENSP00000354293:G568S	G	+	1	0	PCDHB16	140544020	0.000000	0.05858	0.984000	0.44739	0.978000	0.69477	0.941000	0.29005	0.212000	0.20703	0.479000	0.44913	GGC		0.711	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		4	79	0	0	0	0.009096	0	4	79					A	140563836	G	A	140563836	3	1	217	1	0	0	0	0	1	0	0	0	11541	1116	39	1	1704	1	PCDHB16	5	140563836	Missense_Mutation	SNP	G	TCGA-EL-A3GW-01A-11D-A202-08		140563836	40351424	4	4562											
DBNL	28988	broad.mit.edu	37	chr7	44089851	44089851	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttacctatgaaggcaacagCaatgacatccgcgtggctgg	11	10	0	2			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr7:44089851C>T	ENST00000448521.1	+	2	209	c.111C>T	c.(109-111)agC>agT	p.S37S	DBNL_ENST00000468694.1_Silent_p.S37S|DBNL_ENST00000490734.2_Missense_Mutation_p.A5V|DBNL_ENST00000452943.1_Silent_p.S37S|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000456905.1_Silent_p.S37S|DBNL_ENST00000494774.1_Silent_p.S37S|DBNL_ENST00000440166.1_Intron	NM_001014436.2	NP_001014436.1	Q9UJU6	DBNL_HUMAN	drebrin-like	37	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|endocytosis (GO:0006897)|immune system process (GO:0002376)|neuron projection morphogenesis (GO:0048812)|podosome assembly (GO:0071800)|Rac protein signal transduction (GO:0016601)|synapse assembly (GO:0007416)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|podosome (GO:0002102)|postsynaptic density (GO:0014069)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|enzyme activator activity (GO:0008047)			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						AAGGCAACAGCAATGACATCC	0.557																																					NSCLC(68;573 1327 18604 34760 37992)	ENST00000490734.2																			0				breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						c.(13-15)gCa>gTa		drebrin-like							163	142	149					7																	44089851		2203	4300	6503	SO:0001819	synonymous_variant	28988				activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding	g.chr7:44089851C>T	AF151364	CCDS34622.1, CCDS34623.1, CCDS47579.1, CCDS64633.1, CCDS64634.1	7p13	2004-07-22			ENSG00000136279	ENSG00000136279			2696	protein-coding gene	gene with protein product		610106				10087302	Standard	NM_014063		Approved	SH3P7, HIP-55	uc003tjq.4	Q9UJU6	OTTHUMG00000155350	ENST00000448521.1:c.111C>T	7.37:g.44089851C>T						DBNL_ENST00000440166.1_Intron|DBNL_ENST00000468694.1_Silent_p.S37S|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000456905.1_Silent_p.S37S|DBNL_ENST00000494774.1_Silent_p.S37S|DBNL_ENST00000448521.1_Silent_p.S37S|DBNL_ENST00000452943.1_Silent_p.S37S	p.A5V			Q9UJU6	DBNL_HUMAN			2	129	+			0			ADF-H.		A4D2I9|B4DEM2|C9J7P1|P84070|Q6IAI8|Q96F30|Q96K74|Q9HBN8|Q9NR72	Missense_Mutation	SNP	ENST00000448521.1	37	c.14C>T	CCDS34623.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.033022	0.93575	.	.	ENSG00000136279	ENST00000490734;ENST00000539475	T	0.18174	2.23	5.41	5.41	0.78517	.	.	.	.	.	T	0.36110	0.0955	.	.	.	0.30494	N	0.771122	.	.	.	.	.	.	T	0.16335	-1.0406	6	0.72032	D	0.01	-49.0765	18.8965	0.92426	0.0:1.0:0.0:0.0	.	.	.	.	V	5	ENSP00000417749:A5V	ENSP00000417749:A5V	A	+	2	0	DBNL	44056376	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.587000	0.53957	2.553000	0.86117	0.650000	0.86243	GCA		0.557	DBNL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339572.2	NM_014063		7	106	0	0	0	0.038147	0	7	106					T	44089851	C	T	44089851	2	4	217	1	0	0	0	0	0	0	0	1	4255	709	25	2		2	DBNL	7	44089851	Silent	SNP	C	TCGA-EL-A3GW-01A-11D-A202-08		44089851	115048812	5	4563											
TNPO3	23534	broad.mit.edu	37	chr7	128641196	128641196	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaagttgcatggctaatggCaagttagtctccacattctc	8	9	2	0			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr7:128641196C>T	ENST00000265388.5	-	6	932	c.789G>A	c.(787-789)ttG>ttA	p.L263L	TNPO3_ENST00000482320.1_Silent_p.L197L|TNPO3_ENST00000393245.1_Silent_p.L263L|TNPO3_ENST00000471166.1_Silent_p.L263L|TNPO3_ENST00000471234.1_Silent_p.L263L			Q9Y5L0	TNPO3_HUMAN	transportin 3	263					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						TGGCTAATGGCAAGTTAGTCT	0.463																																					Pancreas(147;583 2585 39696 52331)	ENST00000393245.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						c.(787-789)ttG>ttA		transportin 3							252	221	231					7																	128641196		2203	4300	6503	SO:0001819	synonymous_variant	23534				splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	g.chr7:128641196C>T	AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"Importins"	17103	protein-coding gene	gene with protein product	"importin 12"	610032	"limb girdle muscular dystrophy 1F (autosomal dominant)"	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.789G>A	7.37:g.128641196C>T						TNPO3_ENST00000265388.5_Silent_p.L263L|TNPO3_ENST00000471166.1_Silent_p.L263L|TNPO3_ENST00000471234.1_Silent_p.L263L|TNPO3_ENST00000482320.1_Silent_p.L197L	p.L263L	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN			6	1162	-			263					A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Silent	SNP	ENST00000265388.5	37	c.789G>A	CCDS5809.1																																																																																				0.463	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1	NM_012470		61	107	0	0	0	0.139131	0	61	107					T	128641196	C	T	128641196	2	4	217	1	0	0	0	0	0	0	0	1	16334	709	25	2		2	TNPO3	7	128641196	Silent	SNP	C	TCGA-EL-A3GW-01A-11D-A202-08	84551345	128641196	30497467	6	4564											
FASTK	10922	broad.mit.edu	37	chr7	150774839	150774839	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtgtccagcagggagaggtaGcgacgcacaatcagagcatg	15	9	1	2			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr7:150774839G>C	ENST00000297532.6	-	6	1145	c.1068C>G	c.(1066-1068)cgC>cgG	p.R356R	FASTK_ENST00000540185.1_3'UTR|FASTK_ENST00000353841.2_Silent_p.R215R|RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000489884.1_5'UTR|FASTK_ENST00000482571.1_Silent_p.R329R	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	356					apoptotic signaling pathway (GO:0097190)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|Fas-activated serine/threonine kinase activity (GO:0033867)|protein serine/threonine kinase activity (GO:0004674)			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		GGGAGAGGTAGCGACGCACAA	0.692																																						ENST00000297532.6																			0				lung(4)|stomach(2)	6						c.(1066-1068)cgC>cgG		Fas-activated serine/threonine kinase							38	46	43					7																	150774839		2203	4300	6503	SO:0001819	synonymous_variant	10922				apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding	g.chr7:150774839G>C		CCDS5918.1, CCDS5919.1, CCDS59088.1	7q35	2006-07-06			ENSG00000164896	ENSG00000164896			24676	protein-coding gene	gene with protein product		606965				7544399, 15572676	Standard	NM_006712		Approved	FAST	uc003wix.2	Q14296	OTTHUMG00000158694	ENST00000297532.6:c.1068C>G	7.37:g.150774839G>C						FASTK_ENST00000482571.1_Silent_p.R329R|FASTK_ENST00000489884.1_5'UTR|FASTK_ENST00000353841.2_Silent_p.R215R|FASTK_ENST00000540185.1_3'UTR	p.R356R	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)	6	1145	-			356					A8K867|F8VTW9|Q59EM8|Q8IVA0	Silent	SNP	ENST00000297532.6	37	c.1068C>G	CCDS5918.1																																																																																				0.692	FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351832.2	NM_006712		3	51	0	0	0	0.115264	0	3	51					C	150774839	G	C	150774839	2	2	217	1	0	0	0	0	0	0	0	1	5684	958	34	4		4	FASTK	7	150774839	Silent	SNP	G	TCGA-EL-A3GW-01A-11D-A202-08	22133643	150774839	8363824	7	4565											
SIGMAR1	10280	broad.mit.edu	37	chr9	34637622	34637622	+	Frame_Shift_Del	DEL	C	C	-													acccagccagagccagacgaCctgggtcagcaccgctgcga							TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr9:34637622delC	ENST00000277010.4	-	1	146	c.73delG	c.(73-75)gtcfs	p.V26fs	SIGMAR1_ENST00000477726.1_Frame_Shift_Del_p.V26fs|SIGMAR1_ENST00000461426.1_5'UTR|SIGMAR1_ENST00000378892.1_5'UTR	NM_001282208.1|NM_005866.2	NP_001269137.1|NP_005857.1	Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	26					cell death (GO:0008219)|lipid transport (GO:0006869)|nervous system development (GO:0007399)|regulation of neuron apoptotic process (GO:0043523)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lipid particle (GO:0005811)|nuclear envelope (GO:0005635)	drug binding (GO:0008144)|opioid receptor activity (GO:0004985)			large_intestine(1)|lung(1)	2					Amitriptyline(DB00321)|Dextromethorphan(DB00514)|Nortriptyline(DB00540)|Pentazocine(DB00652)|Remoxipride(DB00409)	AGCCAGACGACCTGGGTCAGC	0.726																																						ENST00000277010.4																			0				large_intestine(1)|lung(1)	2						c.(73-75)tcfs		sigma non-opioid intracellular receptor 1	Dextromethorphan(DB00514)						11	12	11					9																	34637622		2152	4205	6357	SO:0001589	frameshift_variant	10280				ergosterol biosynthetic process|lipid transport	cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane	C-8 sterol isomerase activity|drug binding	g.chr9:34637622delC	BC004899	CCDS6562.1, CCDS6563.1	9p13.3	2008-12-18	2008-12-18	2008-12-18	ENSG00000147955	ENSG00000147955			8157	protein-coding gene	gene with protein product		601978	"opioid receptor, sigma 1"	OPRS1		8954936, 9453537	Standard	NM_005866		Approved	SR-BP1	uc003zvb.3	Q99720	OTTHUMG00000019829	ENST00000277010.4:c.73delG	9.37:g.34637622delC	ENSP00000277010:p.Val26fs					SIGMAR1_ENST00000378892.1_5'UTR|SIGMAR1_ENST00000477726.1_Frame_Shift_Del_p.V26fs|SIGMAR1_ENST00000461426.1_5'UTR	p.V26fs	NM_005866.2	NP_005857.1	Q99720	SGMR1_HUMAN			1	146	-			26					D3DRM7|O00673|O00725|Q0Z9W6|Q153Z1|Q2TSD1|Q53GN2|Q7Z653|Q8N7H3|Q9NYX0	Frame_Shift_Del	DEL	ENST00000277010.4	37	c.73delG	CCDS6562.1																																																																																				0.726	SIGMAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052204.1	NM_005866		2	4						2	4	---	---	---	---	-	34637622	C	-	34637622	7	5	217	1	0	1	0	1	0	0	0	0	14316	507	18	0	614	0	SIGMAR1	9	34637622	Frame_Shift_Del	DEL	C	TCGA-EL-A3GW-01A-11D-A202-08		34637622	106575809	8	4566											
FANCG	2189	broad.mit.edu	37	chr9	35079474	35079474	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agccggtcattcttttccctCcacaggtccaggcagctgga	10	14	2	0			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr9:35079474C>T	ENST00000378643.3	-	1	539	c.48G>A	c.(46-48)tgG>tgA	p.W16*	FANCG_ENST00000476212.1_5'Flank	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	16					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|mitochondrion organization (GO:0007005)|ovarian follicle development (GO:0001541)|response to radiation (GO:0009314)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	damaged DNA binding (GO:0003684)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCTTTTCCCTCCACAGGTCCA	0.617			"Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks																														ENST00000378643.3			yes	Rec		Fanconi anaemia G	9	9p13	2189	"Mis, N, F, S"	"Fanconi anemia, complementation group G"			L		"AML, leukemia"			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28						c.(46-48)tgG>tgA	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group G							79	79	79					9																	35079474		2203	4300	6503	SO:0001587	stop_gained	2189				cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding	g.chr9:35079474C>T	AJ007669	CCDS6574.1	9p13	2014-09-17			ENSG00000221829	ENSG00000221829		"Fanconi anemia, complementation groups"	3588	protein-coding gene	gene with protein product	"DNA repair protein XRCC9", "X-ray repair, complementing defective, in Chinese hamster, 9", "X-ray repair complementing defective repair in Chinese hamster cells 9"	602956		XRCC9		9256465, 9382107	Standard	NM_004629		Approved	FAG	uc003zwb.1	O15287	OTTHUMG00000019850	ENST00000378643.3:c.48G>A	9.37:g.35079474C>T	ENSP00000367910:p.Trp16*						p.W16*	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		1	539	-			16						Nonsense_Mutation	SNP	ENST00000378643.3	37	c.48G>A	CCDS6574.1	.	.	.	.	.	.	.	.	.	.	C	37	6.398967	0.97537	.	.	ENSG00000221829	ENST00000378643;ENST00000543657;ENST00000448890	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4347	13.8924	0.63747	0.0:1.0:0.0:0.0	.	.	.	.	X	16	.	ENSP00000367910:W16X	W	-	3	0	FANCG	35069474	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.233000	0.51311	2.735000	0.93741	0.561000	0.74099	TGG		0.617	FANCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052269.1	NM_004629		31	61	0	0	0	0.086207	0	31	61					T	35079474	C	T	35079474	4	4	217	1	0	0	0	0	0	1	0	0	5668	856	30	2	1876	2	FANCG	9	35079474	Nonsense_Mutation	SNP	C	TCGA-EL-A3GW-01A-11D-A202-08	441852	35079474	106133957	9	4567											
MED6	10001	broad.mit.edu	37	chr14	71051560	71051560	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatccgtttttcagggggGcctttagcactcactgtctg	10	12	4	0			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr14:71051560G>A	ENST00000256379.5	-	8	740	c.711C>T	c.(709-711)ggC>ggT	p.G237G	MED6_ENST00000430055.2_Silent_p.G244G|MED6_ENST00000440435.2_3'UTR|MED6_ENST00000554963.1_Silent_p.G237G	NM_001284209.1|NM_005466.2	NP_001271138.1|NP_005457.2	O75586	MED6_HUMAN	mediator complex subunit 6	237					gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(2)|skin(1)	5				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		TTTCAGGGGGGCCTTTAGCAC	0.448																																						ENST00000256379.5																			0				large_intestine(2)|lung(2)|skin(1)	5						c.(709-711)ggC>ggT		mediator complex subunit 6							223	195	204					14																	71051560		2203	4300	6503	SO:0001819	synonymous_variant	10001				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity	g.chr14:71051560G>A	BC004106	CCDS9805.1, CCDS61483.1, CCDS61484.1, CCDS73649.1	14q24.1	2013-02-28	2007-07-30		ENSG00000133997	ENSG00000133997			19970	protein-coding gene	gene with protein product		602984	"mediator of RNA polymerase II transcription, subunit 6 homolog (S. cerevisiae)"			9234719, 9671713	Standard	NM_001284209		Approved	NY-REN-28	uc001xmf.3	O75586	OTTHUMG00000171252	ENST00000256379.5:c.711C>T	14.37:g.71051560G>A						MED6_ENST00000440435.2_3'UTR|MED6_ENST00000554963.1_Silent_p.G237G|MED6_ENST00000430055.2_Silent_p.G244G	p.G237G	NM_005466.2	NP_005457.2	O75586	MED6_HUMAN		all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)	8	740	-			237					B4DU17|B4E2P0|O15401|Q53FE3|Q53HJ3|Q6FHQ4|Q9BTH1|Q9UHL1	Silent	SNP	ENST00000256379.5	37	c.711C>T	CCDS9805.1																																																																																				0.448	MED6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412560.2	NM_005466		12	129	0	0	0	0.080935	0	12	129					A	71051560	G	A	71051560	2	1	217	1	0	0	0	0	0	0	0	1	9451	1190	42	2		2	MED6	14	71051560	Silent	SNP	G	TCGA-EL-A3GW-01A-11D-A202-08		71051560	36297980	10	4568											
CHD9	80205	broad.mit.edu	37	chr16	53340255	53340255	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgaacaatgggacaccagaGtctgcttatatcttacaagg	9	8	2	2			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr16:53340255G>T	ENST00000398510.3	+	31	6813	c.6726G>T	c.(6724-6726)gaG>gaT	p.E2242D	CHD9_ENST00000566029.1_Missense_Mutation_p.E2242D|CHD9_ENST00000447540.1_Missense_Mutation_p.E2243D|CHD9_ENST00000564845.1_Missense_Mutation_p.E2242D			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2242					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GGACACCAGAGTCTGCTTATA	0.408																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(6724-6726)gaG>gaT		chromodomain helicase DNA binding protein 9							85	85	85					16																	53340255		1896	4112	6008	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53340255G>T	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.6726G>T	16.37:g.53340255G>T	ENSP00000381522:p.Glu2242Asp					CHD9_ENST00000398510.3_Missense_Mutation_p.E2242D|CHD9_ENST00000447540.1_Missense_Mutation_p.E2243D|CHD9_ENST00000564845.1_Missense_Mutation_p.E2242D	p.E2242D			Q3L8U1	CHD9_HUMAN			32	6935	+		all_cancers(37;0.0212)	2242					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.6726G>T		.	.	.	.	.	.	.	.	.	.	G	13.65	2.300562	0.40694	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D;D	0.86956	-2.12;-2.19	5.88	1.39	0.22231	.	0.312532	0.27831	N	0.017667	T	0.75162	0.3812	N	0.14661	0.345	0.24747	N	0.993005	P;P;B;P;P	0.50943	0.584;0.9;0.0;0.92;0.94	B;B;B;P;P	0.50440	0.138;0.438;0.003;0.52;0.641	T	0.65721	-0.6099	10	0.17832	T	0.49	-9.9875	1.756	0.02982	0.1722:0.1032:0.3928:0.3318	.	308;2242;2243;2242;2242	C9JR69;B7ZML1;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;.;CHD9_HUMAN;.	D	2243;2242;308	ENSP00000396345:E2243D;ENSP00000381522:E2242D	ENSP00000381522:E2242D	E	+	3	2	CHD9	51897756	1.000000	0.71417	0.995000	0.50966	0.714000	0.41099	1.233000	0.32648	0.393000	0.25203	-0.181000	0.13052	GAG		0.408	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		8	31	1	0	0.00448238	0.047766	0.00636209	8	31					T	53340255	G	T	53340255	3	4	217	1	0	0	0	0	1	0	0	0	3332	1020	36	4	6848	4	CHD9	16	53340255	Missense_Mutation	SNP	G	TCGA-EL-A3GW-01A-11D-A202-08		53340255	37014498	11	4569											
MED31	51003	broad.mit.edu	37	chr17	6553725	6553725	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcacaaattccaactccaaCtgaaaccgaagtcgatttcc	5	13	0	1			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr17:6553725C>A	ENST00000225728.3	-	2	162	c.57G>T	c.(55-57)caG>caT	p.Q19H	MED31_ENST00000574128.1_5'UTR|MED31_ENST00000575197.1_Missense_Mutation_p.Q19H|C17orf100_ENST00000391428.2_5'Flank	NM_016060.2	NP_057144.1	Q9Y3C7	MED31_HUMAN	mediator complex subunit 31	19					gene expression (GO:0010467)|limb development (GO:0060173)|negative regulation of fibroblast proliferation (GO:0048147)|protein complex assembly (GO:0006461)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|endometrium(1)|large_intestine(1)	3						CCAACTCCAACTGAAACCGAA	0.348																																						ENST00000225728.3																			0				cervix(1)|endometrium(1)|large_intestine(1)	3						c.(55-57)caG>caT		mediator complex subunit 31							120	114	116					17																	6553725		2203	4300	6503	SO:0001583	missense	51003				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding	g.chr17:6553725C>A	AF151883	CCDS11078.1	17p13.1	2007-07-30	2007-07-30		ENSG00000108590	ENSG00000108590			24260	protein-coding gene	gene with protein product			"mediator of RNA polymerase II transcription, subunit 31 homolog (S. cerevisiae)"			10810093	Standard	NM_016060		Approved	CGI-125, Soh1	uc002gdg.4	Q9Y3C7	OTTHUMG00000102051	ENST00000225728.3:c.57G>T	17.37:g.6553725C>A	ENSP00000225728:p.Gln19His					MED31_ENST00000575197.1_Missense_Mutation_p.Q19H|MED31_ENST00000574128.1_5'UTR	p.Q19H	NM_016060.2	NP_057144.1	Q9Y3C7	MED31_HUMAN			2	162	-			19					B2R4L9	Missense_Mutation	SNP	ENST00000225728.3	37	c.57G>T	CCDS11078.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726570	0.48833	.	.	ENSG00000108590	ENST00000225728	.	.	.	5.71	2.62	0.31277	.	0.000000	0.85682	D	0.000000	T	0.63663	0.2530	M	0.82132	2.575	0.80722	D	1	B	0.32302	0.363	B	0.36378	0.223	T	0.65425	-0.6171	9	0.52906	T	0.07	0.8509	10.2417	0.43316	0.0:0.7663:0.0:0.2337	.	19	Q9Y3C7	MED31_HUMAN	H	19	.	ENSP00000225728:Q19H	Q	-	3	2	MED31	6494449	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.173000	0.31920	0.891000	0.36235	-0.252000	0.11476	CAG		0.348	MED31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219852.1	NM_016060		10	108	1	0	7.48243e-07	0.058154	1.13527e-06	10	108					A	6553725	C	A	6553725	3	1	217	1	0	0	0	0	1	0	0	0	9449	564	20	4	350	4	MED31	17	6553725	Missense_Mutation	SNP	C	TCGA-EL-A3GW-01A-11D-A202-08		6553725	74641485	12	4570											
KIAA0892	23383	broad.mit.edu	37	chr19	19460201	19460201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accggctcacagcctgctccCtcgtgcttctgggccacatc	9	18	2	0			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr19:19460201C>T	ENST00000392313.6	+	16	1683	c.1504C>T	c.(1504-1506)Ctc>Ttc	p.L502F	MAU2_ENST00000262815.8_Missense_Mutation_p.L502F	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	502					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						AGCCTGCTCCCTCGTGCTTCT	0.592																																						ENST00000392313.5																			0				NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1504-1506)Ctc>Ttc		MAU2 sister chromatid cohesion factor							151	146	148					19																	19460201		2203	4300	6503	SO:0001583	missense	23383				cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding	g.chr19:19460201C>T	AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"sister chromatid cohesion 4"	614560	"KIAA0892", "MAU2 chromatid cohesion factor homolog (C. elegans)"	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.1504C>T	19.37:g.19460201C>T	ENSP00000376127:p.Leu502Phe					MAU2_ENST00000262815.8_Missense_Mutation_p.L502F	p.L502F	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN			16	1550	+			502					Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Missense_Mutation	SNP	ENST00000392313.6	37	c.1504C>T	CCDS32969.2	.	.	.	.	.	.	.	.	.	.	C	16.59	3.165163	0.57476	.	.	ENSG00000129933	ENST00000392313;ENST00000262815	T;T	0.66995	-0.24;-0.24	4.97	4.97	0.65823	Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000001	T	0.75510	0.3859	L	0.55990	1.75	0.80722	D	1	D;D;P	0.69078	0.997;0.991;0.906	D;D;P	0.75484	0.986;0.934;0.649	T	0.75488	-0.3300	10	0.48119	T	0.1	.	10.4476	0.44503	0.0:0.9095:0.0:0.0905	.	78;107;502	Q9Y6X3-3;Q9Y6X3-2;Q9Y6X3	.;.;SCC4_HUMAN	F	502	ENSP00000376127:L502F;ENSP00000262815:L502F	ENSP00000262815:L502F	L	+	1	0	MAU2	19321201	1.000000	0.71417	0.936000	0.37596	0.410000	0.31052	5.656000	0.67988	2.323000	0.78572	0.561000	0.74099	CTC		0.592	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316748.6	NM_015329		6	173	0	0	0	0.021553	0	6	173					T	19460201	C	T	19460201	3	4	217	1	0	0	0	0	1	0	0	0	8196	681	24	2	1566	2	KIAA0892	19	19460201	Missense_Mutation	SNP	C	TCGA-EL-A3GW-01A-11D-A202-08		19460201	39668782	13	4571											
NPHS1	4868	broad.mit.edu	37	chr19	36333350	36333350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccacaatgcactggtaagCgccagcctgggccagtttgg	13	12	0	0	rs374846352		TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr19:36333350C>T	ENST00000378910.5	-	18	2436	c.2437G>A	c.(2437-2439)Gct>Act	p.A813T	NPHS1_ENST00000353632.6_Missense_Mutation_p.A813T	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	813	Ig-like C2-type 7.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CACTGGTAAGCGCCAGCCTGG	0.572																																						ENST00000378910.5																			0				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(2437-2439)Gct>Act		nephrosis 1, congenital, Finnish type (nephrin)		C	THR/ALA	0,4406		0,0,2203	88	82	84		2437	2.1	1.0	19		84	2,8598	2.2+/-6.3	0,2,4298	no	missense	NPHS1	NM_004646.3	58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	813/1242	36333350	2,13004	2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36333350C>T		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.2437G>A	19.37:g.36333350C>T	ENSP00000368190:p.Ala813Thr					NPHS1_ENST00000353632.6_Missense_Mutation_p.A813T	p.A813T	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		18	2436	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		813			Ig-like C2-type 7.		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.2437G>A	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.691353	0.48097	0.0	2.33E-4	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.10860	2.83;2.83	4.46	2.14	0.27477	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.233434	0.36303	N	0.002679	T	0.05777	0.0151	N	0.05534	-0.03	0.24836	N	0.992494	D	0.54397	0.966	P	0.44860	0.462	T	0.39502	-0.9611	10	0.21540	T	0.41	-6.4368	10.2784	0.43523	0.0:0.5805:0.4195:0.0	.	813	O60500	NPHN_HUMAN	T	813	ENSP00000368190:A813T;ENSP00000343634:A813T	ENSP00000343634:A813T	A	-	1	0	NPHS1	41025190	0.519000	0.26242	0.985000	0.45067	0.893000	0.52053	1.167000	0.31847	1.087000	0.41251	0.558000	0.71614	GCT		0.572	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			52	70	0	0	0	0.139131	0	52	70					T	36333350	C	T	36333350	3	4	217	1	0	0	0	0	1	0	0	0	10582	768	27	1	1336	1	NPHS1	19	36333350	Missense_Mutation	SNP	C	TCGA-EL-A3GW-01A-11D-A202-08	16873149	36333350	22795633	14	4572											
PCNT	5116	broad.mit.edu	37	chr21	47783688	47783688	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagaggtccttgacggaGcagcagggccgcctgcagca	16	12	0	2			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr21:47783688G>A	ENST00000359568.5	+	14	2555	c.2448G>A	c.(2446-2448)gaG>gaA	p.E816E	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	816					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCTTGACGGAGCAGCAGGGCC	0.607																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(2446-2448)gaG>gaA		pericentrin							58	61	60					21																	47783688		2203	4300	6503	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47783688G>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.2448G>A	21.37:g.47783688G>A						PCNT_ENST00000480896.1_3'UTR	p.E816E	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			14	2555	+	Breast(49;0.112)		816					O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.2448G>A	CCDS33592.1																																																																																				0.607	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		3	105	0	0	0	0.115264	0	3	105					A	47783688	G	A	47783688	2	1	217	1	0	0	0	0	0	0	0	1	11590	962	34	2		2	PCNT	21	47783688	Silent	SNP	G	TCGA-EL-A3GW-01A-11D-A202-08		47783688	346207	15	4573											
TAB3	257397	broad.mit.edu	37	chrX	30873051	30873051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacggcgtactctgaggaGtttgtcttcctgatgaactc	11	11	2	3			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chrX:30873051G>A	ENST00000378933.1	-	3	908	c.731C>T	c.(730-732)aCt>aTt	p.T244I	TAB3_ENST00000378932.2_Missense_Mutation_p.T244I|TAB3_ENST00000378930.3_Missense_Mutation_p.T244I|TAB3_ENST00000288422.2_Missense_Mutation_p.T244I|TAB3_ENST00000378928.1_5'Flank|TAB3-AS2_ENST00000445240.1_RNA	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	244	Pro-rich.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						ACTCTGAGGAGTTTGTCTTCC	0.463																																					Pancreas(164;1598 1985 29022 43301 49529)	ENST00000378933.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						c.(730-732)aCt>aTt		TGF-beta activated kinase 1/MAP3K7 binding protein 3							60	54	56					X																	30873051		2202	4300	6502	SO:0001583	missense	257397				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chrX:30873051G>A	AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"TAK1 binding protein 3"	300480	"mitogen-activated protein kinase kinase kinase 7 interacting protein 3"	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.731C>T	X.37:g.30873051G>A	ENSP00000368215:p.Thr244Ile					TAB3_ENST00000288422.2_Missense_Mutation_p.T244I|TAB3_ENST00000378932.2_Missense_Mutation_p.T244I|TAB3_ENST00000378930.3_Missense_Mutation_p.T244I	p.T244I	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN			3	908	-			244			Pro-rich.		A6NDD9|Q6VQR0	Missense_Mutation	SNP	ENST00000378933.1	37	c.731C>T	CCDS14226.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.840003	0.51057	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.86	4.83	3.89	0.44902	.	0.088885	0.85682	D	0.000000	T	0.75510	0.3859	L	0.40543	1.245	0.35350	D	0.78726	D;D	0.64830	0.994;0.99	P;P	0.54759	0.76;0.58	D	0.83530	0.0090	10	0.72032	D	0.01	-5.1467	13.9414	0.64057	0.0:0.149:0.8509:0.0	.	244;244	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	I	244	ENSP00000368215:T244I;ENSP00000368212:T244I;ENSP00000288422:T244I;ENSP00000368214:T244I	ENSP00000288422:T244I	T	-	2	0	TAB3	30782972	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	4.938000	0.63519	2.123000	0.65237	0.544000	0.68410	ACT		0.463	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	NM_152787		8	9	0	0	0	0.038147	0	8	9					A	30873051	G	A	30873051	3	1	217	1	0	0	0	0	1	0	0	0	15494	1029	36	2	1431	2	TAB3	23	30873051	Missense_Mutation	SNP	G	TCGA-EL-A3GW-01A-11D-A202-08		30873051	124397509	16	4574											
LAMC1	3915	broad.mit.edu	37	chr1	183087214	183087214	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaggcctgctcttaccccTtttgaatttcagaagctcct	8	12	2	2			TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr1:183087214T>C	ENST00000258341.4	+	11	2180	c.1923T>C	c.(1921-1923)ccT>ccC	p.P641P		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	641	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	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)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.P641P(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						CTCTTACCCCTTTTGAATTTC	0.418																																						ENST00000258341.4																			1	Substitution - coding silent(1)	p.P641P(1)	lung(1)	NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(1921-1923)ccT>ccC		laminin, gamma 1 (formerly LAMB2)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						122	127	125					1																	183087214		2203	4300	6503	SO:0001819	synonymous_variant	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183087214T>C	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"Laminins"	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.1923T>C	1.37:g.183087214T>C							p.P641P	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN			11	2180	+			641			Laminin IV type A.		Q5VYE7	Silent	SNP	ENST00000258341.4	37	c.1923T>C	CCDS1351.1																																																																																				0.418	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		3	101	0	0	0	0.004672	0	3	101					C	183087214	T	C	183087214	2	2	218	1	0	0	0	0	0	0	0	1	8614	1596	56	3		3	LAMC1	1	183087214	Silent	SNP	T	TCGA-EL-A3GX-01A-11D-A202-08		183087214	66163407	1	4575											
SLC3A1	6519	broad.mit.edu	37	chr2	44527120	44527120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatctttaggaaattttacGgttctggctcacaaagggtg	10	7	4	0	rs372528227		TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr2:44527120G>A	ENST00000260649.6	+	5	978	c.902G>A	c.(901-903)cGg>cAg	p.R301Q	SLC3A1_ENST00000410056.3_Missense_Mutation_p.R301Q|SLC3A1_ENST00000409229.3_Missense_Mutation_p.R301Q|SLC3A1_ENST00000409294.1_5'Flank|SLC3A1_ENST00000409380.1_Missense_Mutation_p.R23Q|SLC3A1_ENST00000409387.1_Missense_Mutation_p.R301Q|SLC3A1_ENST00000409741.1_Missense_Mutation_p.R301Q	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	301					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GAAATTTTACGGTTCTGGCTC	0.363																																						ENST00000260649.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26						c.(901-903)cGg>cAg		solute carrier family 3 (amino acid transporter heavy chain), member 1	L-Cystine(DB00138)						177	178	178					2																	44527120		2203	4300	6503	SO:0001583	missense	6519				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity	g.chr2:44527120G>A		CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"Solute carriers"	11025	protein-coding gene	gene with protein product		104614	"solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.902G>A	2.37:g.44527120G>A	ENSP00000260649:p.Arg301Gln					SLC3A1_ENST00000409387.1_Missense_Mutation_p.R301Q|SLC3A1_ENST00000409229.3_Missense_Mutation_p.R301Q|SLC3A1_ENST00000410056.3_Missense_Mutation_p.R301Q|SLC3A1_ENST00000409741.1_Missense_Mutation_p.R301Q|SLC3A1_ENST00000409380.1_Missense_Mutation_p.R23Q	p.R301Q	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN			5	978	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	301					A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Missense_Mutation	SNP	ENST00000260649.6	37	c.902G>A	CCDS1819.1	.	.	.	.	.	.	.	.	.	.	G	5.916	0.353101	0.11182	.	.	ENSG00000138079	ENST00000260649;ENST00000409387;ENST00000540334;ENST00000410056;ENST00000409741;ENST00000409229;ENST00000541289;ENST00000409380;ENST00000427285	D;D;D;D;D;D;D	0.98280	-4.84;-4.84;-4.84;-4.84;-4.84;-4.84;-4.84	5.35	0.29	0.15728	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.498699	0.23476	N	0.047771	D	0.94706	0.8292	L	0.47016	1.485	0.24888	N	0.992186	B;B;B;B;B	0.24092	0.006;0.06;0.097;0.026;0.046	B;B;B;B;B	0.20184	0.011;0.019;0.028;0.017;0.008	D	0.87585	0.2487	10	0.27082	T	0.32	-4.21	6.1902	0.20520	0.6489:0.1317:0.2194:0.0	.	301;301;301;301;301	Q07837;B8ZZK1;Q4J6B5;Q4J6B6;Q4J6B8	SLC31_HUMAN;.;.;.;.	Q	301;301;237;301;301;301;301;23;79	ENSP00000260649:R301Q;ENSP00000387308:R301Q;ENSP00000387337:R301Q;ENSP00000386954:R301Q;ENSP00000386620:R301Q;ENSP00000386709:R23Q;ENSP00000391642:R79Q	ENSP00000260649:R301Q	R	+	2	0	SLC3A1	44380624	0.049000	0.20398	0.847000	0.33407	0.139000	0.21198	0.599000	0.24089	0.030000	0.15379	-1.133000	0.01973	CGG		0.363	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341		24	104	0	0	0	0.003954	0	24	104					A	44527120	G	A	44527120	3	1	218	1	0	0	0	0	1	0	0	0	14626	1116	39	1	920	1	SLC3A1	2	44527120	Missense_Mutation	SNP	G	TCGA-EL-A3GX-01A-11D-A202-08		44527120	198672253	2	4576											
FETUB	26998	broad.mit.edu	37	chr3	186370224	186370224	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgataaaaattcccaggaaaAgggccctcaggaggcctttc	10	10	1	1			TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr3:186370224A>G	ENST00000265029.3	+	7	1054	c.953A>G	c.(952-954)aAg>aGg	p.K318R	RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382134.3_Missense_Mutation_p.K253R|FETUB_ENST00000382136.3_Missense_Mutation_p.K281R|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000539949.1_Missense_Mutation_p.K170R|FETUB_ENST00000450521.1_Missense_Mutation_p.K318R	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	318					binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		TCCCAGGAAAAGGGCCCTCAG	0.527																																						ENST00000265029.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20						c.(952-954)aAg>aGg		fetuin B							86	99	95					3																	186370224		2203	4300	6503	SO:0001583	missense	26998					extracellular space	cysteine-type endopeptidase inhibitor activity	g.chr3:186370224A>G	AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.953A>G	3.37:g.186370224A>G	ENSP00000265029:p.Lys318Arg					FETUB_ENST00000382136.3_Missense_Mutation_p.K281R|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000539949.1_Missense_Mutation_p.K170R|FETUB_ENST00000450521.1_Missense_Mutation_p.K318R|FETUB_ENST00000382134.3_Missense_Mutation_p.K253R|RP11-134F2.2_ENST00000428501.1_RNA	p.K318R	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)	7	1054	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		318					B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Missense_Mutation	SNP	ENST00000265029.3	37	c.953A>G	CCDS3279.1	.	.	.	.	.	.	.	.	.	.	A	12.18	1.860137	0.32884	.	.	ENSG00000090512	ENST00000450521;ENST00000539949;ENST00000265029;ENST00000382134;ENST00000382136	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	4.19	-5.16	0.02857	.	1.549160	0.03507	N	0.219006	T	0.36744	0.0978	L	0.47716	1.5	0.09310	N	1	P;P;P	0.46064	0.704;0.872;0.514	B;B;B	0.39503	0.152;0.301;0.165	T	0.45789	-0.9237	10	0.35671	T	0.21	0.3744	7.3446	0.26656	0.269:0.5564:0.1746:0.0	.	281;253;318	E9PG06;E9PG08;Q9UGM5	.;.;FETUB_HUMAN	R	318;170;318;253;281	ENSP00000404288:K318R;ENSP00000443704:K170R;ENSP00000265029:K318R;ENSP00000371569:K253R;ENSP00000371571:K281R	ENSP00000265029:K318R	K	+	2	0	FETUB	187852918	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-2.087000	0.01360	-0.936000	0.03723	0.533000	0.62120	AAG		0.527	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	NM_014375		3	194	0	0	0	0.004672	0	3	194					G	186370224	A	G	186370224	3	3	218	1	0	0	0	0	1	0	0	0	5821	72	3	3	979	3	FETUB	3	186370224	Missense_Mutation	SNP	A	TCGA-EL-A3GX-01A-11D-A202-08		186370224	11652206	3	4577											
UBA6	55236	broad.mit.edu	37	chr4	68500218	68500218	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tagagtacaaaatggtatttCctcttctgggggatcccgct	10	9	2	1			TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr4:68500218C>G	ENST00000322244.5	-	21	1920	c.1861G>C	c.(1861-1863)Gaa>Caa	p.E621Q		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	621					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AATGGTATTTCCTCTTCTGGG	0.328																																						ENST00000322244.4																			0				central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						c.(1861-1863)Gaa>Caa		ubiquitin-like modifier activating enzyme 6							57	64	62					4																	68500218		2202	4297	6499	SO:0001583	missense	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68500218C>G	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"Ubiquitin-like modifier activating enzymes"	25581	protein-coding gene	gene with protein product	"UBA6, ubiquitin-activating enzyme E1"	611361	"ubiquitin-activating enzyme E1-like 2"	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.1861G>C	4.37:g.68500218C>G	ENSP00000313454:p.Glu621Gln						p.E621Q	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN			21	1920	-			621					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	ENST00000322244.5	37	c.1861G>C	CCDS3516.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.59|16.59	3.164482|3.164482	0.57476|0.57476	.|.	.|.	ENSG00000033178|ENSG00000033178	ENST00000322244|ENST00000505673	T|.	0.41758|.	0.99|.	5.79|5.79	5.79|5.79	0.91817|0.91817	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-activating enzyme (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59689|0.59689	0.2212|0.2212	L|L	0.28504|0.28504	0.86|0.86	0.80722|0.80722	D|D	1|1	P|.	0.41978|.	0.767|.	P|.	0.46299|.	0.511|.	T|T	0.51965|0.51965	-0.8638|-0.8638	10|5	0.30078|.	T|.	0.28|.	-15.5157|-15.5157	20.0155|20.0155	0.97477|0.97477	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	621|.	A0AVT1|.	UBA6_HUMAN|.	Q|S	621|154	ENSP00000313454:E621Q|.	ENSP00000313454:E621Q|.	E|R	-|-	1|3	0|2	UBA6|UBA6	68182813|68182813	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.487000|7.487000	0.81328|0.81328	2.742000|2.742000	0.94016|0.94016	0.591000|0.591000	0.81541|0.81541	GAA|AGG		0.328	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		7	47	0	0	0	0.001984	0	7	47					G	68500218	C	G	68500218	3	3	218	1	0	0	0	0	1	0	0	0	16829	864	30	4	1349	4	UBA6	4	68500218	Missense_Mutation	SNP	C	TCGA-EL-A3GX-01A-11D-A202-08		68500218	122654058	4	4578											
ANKS1A	23294	broad.mit.edu	37	chr6	34985340	34985340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctcaggcctcctccacgGctcctccccggtgtgcgagg	12	17	1	0	rs199969282		TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr6:34985340G>A	ENST00000360359.3	+	11	1652	c.1514G>A	c.(1513-1515)gGc>gAc	p.G505D	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	505					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTCCTCCACGGCTCCTCCCCG	0.701																																						ENST00000360359.3																			0				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1513-1515)gGc>gAc		ankyrin repeat and sterile alpha motif domain containing 1A							33	38	36					6																	34985340		2203	4300	6503	SO:0001583	missense	23294					cytoplasm	protein binding	g.chr6:34985340G>A	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20961	protein-coding gene	gene with protein product		608994	"ankyrin repeat and SAM domain containing 1", "ankyrin repeat and sterile alpha motif domain containing 1"	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.1514G>A	6.37:g.34985340G>A	ENSP00000353518:p.Gly505Asp					ANKS1A_ENST00000535627.1_Intron	p.G505D	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN			11	1652	+			505					A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	ENST00000360359.3	37	c.1514G>A	CCDS4798.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243051	0.79912	.	.	ENSG00000064999	ENST00000360359	T	0.58797	0.31	5.05	5.05	0.67936	.	0.000000	0.50627	D	0.000117	T	0.69061	0.3069	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72181	-0.4368	10	0.72032	D	0.01	-25.8785	16.9636	0.86279	0.0:0.0:1.0:0.0	.	505	Q92625	ANS1A_HUMAN	D	505	ENSP00000353518:G505D	ENSP00000353518:G505D	G	+	2	0	ANKS1A	35093318	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.005000	0.93587	2.510000	0.84645	0.655000	0.94253	GGC		0.701	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		18	38	0	0	0	0.006122	0	18	38					A	34985340	G	A	34985340	3	1	218	1	0	0	0	0	1	0	0	0	688	1203	42	2	1556	2	ANKS1A	6	34985340	Missense_Mutation	SNP	G	TCGA-EL-A3GX-01A-11D-A202-08		34985340	136129727	5	4579											
PHACTR2	9749	broad.mit.edu	37	chr6	144081695	144081696	+	Frame_Shift_Ins	INS	-	-	A													gtgatgaagtgcctcccattINSaaaaaaaataccaaggctcc							TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr6:144081695_144081696insA	ENST00000427704.2	+	5	709_710	c.579_580insA	c.(580-582)aaafs	p.K194fs	PHACTR2_ENST00000367582.3_Intron|PHACTR2_ENST00000367584.4_Intron|PHACTR2_ENST00000305766.6_Intron|PHACTR2_ENST00000440869.2_Frame_Shift_Ins_p.K205fs	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	194							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TGCCTCCCATTAAAAAAAATAC	0.569																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	ENST00000427704.2																			0				NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(577-582)ataaaafs		phosphatase and actin regulator 2																																				SO:0001589	frameshift_variant	9749						actin binding|protein phosphatase inhibitor activity	g.chr6:144081695_144081696insA	AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"Phosphatase and actin regulators"	20956	protein-coding gene	gene with protein product		608724	"chromosome 6 open reading frame 56"	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.587dupA	6.37:g.144081703_144081703dupA	ENSP00000391763:p.Lys194fs					PHACTR2_ENST00000367584.4_Intron|PHACTR2_ENST00000440869.2_Frame_Shift_Ins_p.IK204fs|PHACTR2_ENST00000367582.3_Intron|PHACTR2_ENST00000305766.6_Intron	p.IK193fs	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)	5	709_710	+			193					A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Frame_Shift_Ins	INS	ENST00000427704.2	37	c.579_580insA	CCDS47492.1																																																																																				0.569	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	NM_014721		7	102						7	102	---	---	---	---	A	144081696	-	A	144081695	7	5	218	1	0	1	1	0	0	0	0	0	11810	1742	61	0	647	0	PHACTR2	6	144081695	Frame_Shift_Ins	INS	-	TCGA-EL-A3GX-01A-11D-A202-08	109096355	144081695	27033372	6	4580											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		30	44	0	0	0	0.002096	0	30	44					T	140453136	A	T	140453136	3	4	218	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3GX-01A-11D-A202-08		140453136	18685527	7	4581											
SLC39A14	23516	broad.mit.edu	37	chr8	22275185	22275185	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agactttgtcatcctgctcaAcgctgggatgagcatccaac	9	12	2	2			TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr8:22275185A>T	ENST00000381237.1	+	8	1288	c.1169A>T	c.(1168-1170)aAc>aTc	p.N390I	SLC39A14_ENST00000240095.6_Missense_Mutation_p.N390I|SLC39A14_ENST00000289952.5_Missense_Mutation_p.N390I|SLC39A14_ENST00000359741.5_Missense_Mutation_p.N390I	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	390					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ferrous iron transmembrane transporter activity (GO:0015093)|zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		ATCCTGCTCAACGCTGGGATG	0.547																																						ENST00000381237.1																			0				NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12						c.(1168-1170)aAc>aTc		solute carrier family 39 (zinc transporter), member 14							177	138	151					8																	22275185		2203	4300	6503	SO:0001583	missense	23516					endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity	g.chr8:22275185A>T	D31887	CCDS6030.1, CCDS47822.1, CCDS47823.1	8p21.2	2013-05-22			ENSG00000104635	ENSG00000104635		"Solute carriers"	20858	protein-coding gene	gene with protein product		608736	"solute carrier family 39 (metal ion transporter), member 14"			12659941	Standard	NM_015359		Approved	KIAA0062, NET34, ZIP14	uc011kzh.2	Q15043	OTTHUMG00000097791	ENST00000381237.1:c.1169A>T	8.37:g.22275185A>T	ENSP00000370635:p.Asn390Ile					SLC39A14_ENST00000240095.6_Missense_Mutation_p.N390I|SLC39A14_ENST00000289952.5_Missense_Mutation_p.N390I|SLC39A14_ENST00000359741.5_Missense_Mutation_p.N390I	p.N390I	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN		Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)	8	1288	+			390					A6NH98|B4DIW3|B6EU88|D3DSR4|Q6ZME8|Q96BB3	Missense_Mutation	SNP	ENST00000381237.1	37	c.1169A>T	CCDS47823.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.303742	0.81136	.	.	ENSG00000104635	ENST00000359741;ENST00000240095;ENST00000381237;ENST00000289952	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	6.17	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.69360	0.3102	M	0.82823	2.61	0.58432	D	0.999999	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.83275	0.983;0.996;0.996	T	0.72686	-0.4218	10	0.62326	D	0.03	-28.6944	11.5887	0.50933	0.9297:0.0:0.0703:0.0	.	390;390;390	Q15043-2;Q15043;B6EU88	.;S39AE_HUMAN;.	I	390	ENSP00000352779:N390I;ENSP00000240095:N390I;ENSP00000370635:N390I;ENSP00000289952:N390I	ENSP00000240095:N390I	N	+	2	0	SLC39A14	22331130	1.000000	0.71417	0.969000	0.41365	0.723000	0.41478	7.352000	0.79404	1.146000	0.42352	0.533000	0.62120	AAC		0.547	SLC39A14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215039.2	XM_046677		61	84	0	0	0	0.00361	0	61	84					T	22275185	A	T	22275185	3	4	218	1	0	0	0	0	1	0	0	0	14617	43	2	5	1369	5	SLC39A14	8	22275185	Missense_Mutation	SNP	A	TCGA-EL-A3GX-01A-11D-A202-08		22275185	124088837	8	4582											
GPR124	25960	broad.mit.edu	37	chr8	37698636	37698636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcgtccaagccttggcgCcttctacatccctgtggctt	11	14	1	0			TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr8:37698636C>T	ENST00000412232.2	+	19	2793	c.2780C>T	c.(2779-2781)gCc>gTc	p.A927V	GPR124_ENST00000315215.7_Missense_Mutation_p.A710V	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	927					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AGCCTTGGCGCCTTCTACATC	0.627																																						ENST00000315215.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(2128-2130)gCc>gTc		G protein-coupled receptor 124							107	116	113					8																	37698636		2203	4300	6503	SO:0001583	missense	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37698636C>T	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17849	protein-coding gene	gene with protein product	"tumor endothelial marker 5"	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.2780C>T	8.37:g.37698636C>T	ENSP00000406367:p.Ala927Val					GPR124_ENST00000412232.2_Missense_Mutation_p.A927V	p.A710V			Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		16	2492	+			927			GPS.		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.2129C>T	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	C	33	5.207401	0.95033	.	.	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.41758	0.99;0.99	4.67	4.67	0.58626	GPCR, family 2-like (1);	0.062185	0.64402	D	0.000004	T	0.71434	0.3339	M	0.91090	3.175	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.74674	0.984;0.966	T	0.78252	-0.2276	10	0.48119	T	0.1	-27.2058	17.575	0.87946	0.0:1.0:0.0:0.0	.	710;927	Q96PE1-2;Q96PE1	.;GP124_HUMAN	V	920;710;927	ENSP00000323508:A710V;ENSP00000406367:A927V	ENSP00000323508:A710V	A	+	2	0	GPR124	37817794	1.000000	0.71417	0.999000	0.59377	0.943000	0.58893	7.757000	0.85209	2.138000	0.66242	0.655000	0.94253	GCC		0.627	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			5	186	0	0	0	0.001984	0	5	186					T	37698636	C	T	37698636	3	4	218	1	0	0	0	0	1	0	0	0	6638	739	26	2	2833	2	GPR124	8	37698636	Missense_Mutation	SNP	C	TCGA-EL-A3GX-01A-11D-A202-08	15423451	37698636	108665386	9	4583											
PRB2	653247	broad.mit.edu	37	chr12	11546180	11546180	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgtggctttcctggaggtgGgggaccttgaggtttgttgc	17	6	0	1			TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr12:11546180G>C	ENST00000389362.4	-	3	867	c.832C>G	c.(832-834)Cca>Gca	p.P278A	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	278	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CCTGGAGGTGGGGGACCTTGA	0.617																																						ENST00000389362.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(832-834)Cca>Gca		proline-rich protein BstNI subfamily 2							78	103	95					12																	11546180		2058	4159	6217	SO:0001583	missense	653247							g.chr12:11546180G>C	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.832C>G	12.37:g.11546180G>C	ENSP00000374013:p.Pro278Ala					PRB1_ENST00000546254.1_Intron	p.P278A	NM_006248.3	NP_006239.3			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	867	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	c.832C>G	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	6.886	0.532935	0.13188	.	.	ENSG00000121335	ENST00000389362	T	0.04862	3.54	1.42	1.42	0.22433	.	0.379473	0.08080	U	1.000000	T	0.06325	0.0163	M	0.70595	2.14	0.09310	N	1	P	0.39424	0.673	B	0.32583	0.148	T	0.30995	-0.9959	10	0.02654	T	1	.	6.7415	0.23439	0.0:0.0:1.0:0.0	.	278	P02812	PRB2_HUMAN	A	278	ENSP00000374013:P278A	ENSP00000374013:P278A	P	-	1	0	PRB2	11437447	0.000000	0.05858	0.003000	0.11579	0.334000	0.28698	-0.838000	0.04372	0.696000	0.31696	0.175000	0.17021	CCA		0.617	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		84	201	0	0	0	0.00361	0	84	201					C	11546180	G	C	11546180	3	2	218	1	0	0	0	0	1	0	0	0	12443	1232	43	4	422	4	PRB2	12	11546180	Missense_Mutation	SNP	G	TCGA-EL-A3GX-01A-11D-A202-08		11546180	122305715	10	4584											
METT11D1	64745	broad.mit.edu	37	chr14	21465001	21465001	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcttttacctgtgcttacTccgtctgcgtttcctccatc	6	14	2	0			TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr14:21465001T>C	ENST00000339374.6	+	14	1556	c.1323T>C	c.(1321-1323)acT>acC	p.T441T	SLC39A2_ENST00000298681.4_5'Flank|METTL17_ENST00000382985.4_Missense_Mutation_p.S466P|RP11-84C10.4_ENST00000557335.1_RNA|SLC39A2_ENST00000554422.1_5'Flank|METTL17_ENST00000556670.2_Silent_p.T432T	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	441					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						CTGTGCTTACTCCGTCTGCGT	0.527																																						ENST00000382985.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(1396-1398)Tcc>Ccc		methyltransferase like 17							163	136	145					14																	21465001		2203	4300	6503	SO:0001819	synonymous_variant	64745				translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity	g.chr14:21465001T>C	AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"methyltransferase 11 domain containing 1"	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.1323T>C	14.37:g.21465001T>C						METTL17_ENST00000339374.6_Silent_p.T441T|RP11-84C10.4_ENST00000557335.1_RNA|METTL17_ENST00000556670.2_Silent_p.T432T	p.S466P			Q9H7H0	MET17_HUMAN			13	1419	+			0					Q9BSH1|Q9BZH2|Q9BZH3	Missense_Mutation	SNP	ENST00000339374.6	37	c.1396T>C	CCDS9562.1	.	.	.	.	.	.	.	.	.	.	T	13.94	2.385708	0.42308	.	.	ENSG00000165792	ENST00000382985;ENST00000556733	T	0.34859	1.34	5.37	-0.0828	0.13697	.	.	.	.	.	T	0.26376	0.0644	.	.	.	0.09310	N	1	P	0.36249	0.545	B	0.36289	0.221	T	0.19943	-1.0290	8	0.87932	D	0	.	5.2749	0.15643	0.3166:0.0:0.2466:0.4368	.	466	Q9H7H0-3	.	P	466;108	ENSP00000372445:S466P	ENSP00000372445:S466P	S	+	1	0	METTL17	20534841	0.000000	0.05858	0.022000	0.16811	0.152000	0.21847	-1.523000	0.02235	0.040000	0.15660	0.533000	0.62120	TCC		0.527	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073804.4	NM_022734		3	110	0	0	0	0.000602	0	3	110					C	21465001	T	C	21465001	2	2	218	1	0	0	0	0	0	0	0	1	9491	1551	54	3		3	METT11D1	14	21465001	Silent	SNP	T	TCGA-EL-A3GX-01A-11D-A202-08		21465001	85884539	11	4585											
C19orf2	8725	broad.mit.edu	37	chr19	30477203	30477203	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caataggtaccatttggcccTtttgccttcatgccaggaaa	8	11	1	0			TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr19:30477203T>C	ENST00000542441.2	+	4	543	c.246T>C	c.(244-246)ccT>ccC	p.P82P	URI1_ENST00000360605.4_Silent_p.P64P|URI1_ENST00000312051.6_Silent_p.P42P|URI1_ENST00000392271.1_Silent_p.P6P			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	82					cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.P82P(1)									CATTTGGCCCTTTTGCCTTCA	0.363																																						ENST00000392271.1																			1	Substitution - coding silent(1)	p.P82P(1)	kidney(1)								c.(16-18)ccT>ccC		URI1, prefoldin-like chaperone							126	120	122					19																	30477203		2203	4300	6503	SO:0001819	synonymous_variant	8725				protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding	g.chr19:30477203T>C	AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	13236	protein-coding gene	gene with protein product	"unconventional prefoldin RPB5 interactor", "RPB5-mediating protein", "protein phosphatase 1, regulatory subunit 19"	603494	"chromosome 19 open reading frame 2"	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.246T>C	19.37:g.30477203T>C						URI1_ENST00000312051.6_Silent_p.P42P|URI1_ENST00000360605.4_Silent_p.P64P|URI1_ENST00000542441.2_Silent_p.P82P	p.P6P	NM_003796.3	NP_003787.2	O94763	RMP_HUMAN			4	543	+			82					A8K805|H7BY42|Q8TC23|Q9UNU3	Silent	SNP	ENST00000542441.2	37	c.18T>C	CCDS12420.1																																																																																				0.363	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	NM_134447		3	96	0	0	0	0.004672	0	3	96					C	30477203	T	C	30477203	2	2	218	1	0	0	0	0	0	0	0	1	1911	1596	56	3		3	C19orf2	19	30477203	Silent	SNP	T	TCGA-EL-A3GX-01A-11D-A202-08		30477203	28651780	12	4586											
CEACAM5	1048	broad.mit.edu	37	chr19	42224846	42224846	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctctttgttccagatggGccggacacccccatcatttc	8	14	2	1			TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr19:42224846G>A	ENST00000221992.6	+	8	1890	c.1776G>A	c.(1774-1776)ggG>ggA	p.G592G	CEACAM5_ENST00000405816.1_Silent_p.G592G|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Silent_p.G591G	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	592	Ig-like 6.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TTCCAGATGGGCCGGACACCC	0.557																																						ENST00000221992.6																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(1774-1776)ggG>ggA		carcinoembryonic antigen-related cell adhesion molecule 5							127	134	131					19																	42224846		2203	4300	6503	SO:0001819	synonymous_variant	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42224846G>A	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1776G>A	19.37:g.42224846G>A						CEACAM5_ENST00000398599.4_Silent_p.G591G|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Silent_p.G592G	p.G592G	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	8	1890	+			592			Ig-like 6.		H9KVA7	Silent	SNP	ENST00000221992.6	37	c.1776G>A	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	g	2.345	-0.350255	0.05173	.	.	ENSG00000105388	ENST00000398599	.	.	.	2.17	-1.35	0.09114	.	.	.	.	.	T	0.20901	0.0503	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26258	-1.0108	4	.	.	.	.	2.7715	0.05336	0.0:0.3989:0.2535:0.3477	.	.	.	.	T	588	.	.	A	+	1	0	CEACAM5	46916686	0.923000	0.31300	0.002000	0.10522	0.076000	0.17211	0.112000	0.15479	-0.267000	0.09325	-0.370000	0.07254	GCC		0.557	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		98	147	0	0	0	0.00361	0	98	147					A	42224846	G	A	42224846	2	1	218	1	0	0	0	0	0	0	0	1	3195	1190	42	2		2	CEACAM5	19	42224846	Silent	SNP	G	TCGA-EL-A3GX-01A-11D-A202-08	11747643	42224846	16904137	13	4587											
RNF215	200312	broad.mit.edu	37	chr22	30782087	30782089	+	In_Frame_Del	DEL	AGA	AGA	-													ccacgttgtggttcaggatgAgaagaagcagggcagaggca					rs5997629	byFrequency	TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr22:30782087_30782089delAGA	ENST00000382363.3	-	3	545_547	c.471_473delTCT	c.(469-474)cttctc>ctc	p.157_158LL>L		NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	157						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						GTTCAGGATGAGAAGAAGCAGGG	0.606																																						ENST00000382363.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						c.(469-474)ctc>ct		ring finger protein 215																																				SO:0001651	inframe_deletion	200312					integral to membrane	zinc ion binding	g.chr22:30782087_30782089delAGA		CCDS33633.1	22q12.2	2013-01-09			ENSG00000099999	ENSG00000099999		"RING-type (C3HC4) zinc fingers"	33434	protein-coding gene	gene with protein product							Standard	NM_001017981		Approved		uc003ahp.3	Q9Y6U7	OTTHUMG00000151016	ENST00000382363.3:c.471_473delTCT	22.37:g.30782090_30782092delAGA	ENSP00000371800:p.Leu158del						p.LL157del	NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN			3	545_547	-			157					A6NEL1	In_Frame_Del	DEL	ENST00000382363.3	37	c.471_473delTCT	CCDS33633.1																																																																																				0.606	RNF215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320960.1	NM_001017981		10	12						10	12	---	---	---	---	-	30782089	AGA	-	30782087	7	5	218	1	0	1	0	1	0	0	0	0	13479	304	11	0	688	0	RNF215	22	30782087	In_Frame_Del	DEL	AGA	TCGA-EL-A3GX-01A-11D-A202-08		30782087	20522479	14	4588											
MAP7D2	256714	broad.mit.edu	37	chrX	20029036	20029036	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcttggggaatgtcgggGgaccagtgaaatctaagaga	14	6	2	2			TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chrX:20029036G>A	ENST00000379651.3	-	15	2102	c.2084C>T	c.(2083-2085)cCc>cTc	p.P695L	MAP7D2_ENST00000443379.3_Missense_Mutation_p.P650L|MAP7D2_ENST00000452324.3_Missense_Mutation_p.P643L|MAP7D2_ENST00000379643.5_Missense_Mutation_p.P736L|MAP7D2_ENST00000543767.1_Missense_Mutation_p.P580L	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	695					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						GAATGTCGGGGGACCAGTGAA	0.463																																						ENST00000379651.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(2083-2085)cCc>cTc		MAP7 domain containing 2							100	93	95					X																	20029036		2203	4300	6503	SO:0001583	missense	256714							g.chrX:20029036G>A	BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.2084C>T	X.37:g.20029036G>A	ENSP00000368972:p.Pro695Leu					MAP7D2_ENST00000452324.3_Missense_Mutation_p.P643L|MAP7D2_ENST00000443379.3_Missense_Mutation_p.P650L|MAP7D2_ENST00000379643.5_Missense_Mutation_p.P736L|MAP7D2_ENST00000543767.1_Missense_Mutation_p.P580L	p.P695L	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN			15	2102	-			695					B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	ENST00000379651.3	37	c.2084C>T	CCDS14195.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286118	0.59867	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000544957;ENST00000452324	D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25	5.39	5.39	0.77823	.	0.078744	0.53938	D	0.000041	D	0.90597	0.7052	L	0.60455	1.87	0.46609	D	0.999124	D;D;D;D;D	0.65815	0.988;0.993;0.993;0.995;0.993	P;P;P;P;P	0.61940	0.791;0.896;0.896;0.791;0.896	D	0.90794	0.4689	10	0.54805	T	0.06	-10.6577	12.8422	0.57809	0.0:0.0:0.6799:0.3201	.	650;643;736;695;580	B7Z3S7;C9JYW0;Q96T17-2;Q96T17;F5GYC2	.;.;.;MA7D2_HUMAN;.	L	695;736;580;650;378;643	ENSP00000368972:P695L;ENSP00000368964:P736L;ENSP00000440691:P580L;ENSP00000388239:P650L;ENSP00000413301:P643L	ENSP00000368964:P736L	P	-	2	0	MAP7D2	19938957	1.000000	0.71417	0.952000	0.39060	0.876000	0.50452	3.819000	0.55686	2.268000	0.75426	0.525000	0.51046	CCC		0.463	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780		53	84	0	0	0	0.00361	0	53	84					A	20029036	G	A	20029036	3	1	218	1	0	0	0	0	1	0	0	0	9268	1232	43	2	118	2	MAP7D2	23	20029036	Missense_Mutation	SNP	G	TCGA-EL-A3GX-01A-11D-A202-08		20029036	135241524	15	4589											
NADK	65220	broad.mit.edu	37	chr1	1686902	1686902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtggaaggccatgaccGgagggacgctgccctgtgag	17	11	0	2			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr1:1686902G>A	ENST00000341426.5	-	7	820	c.599C>T	c.(598-600)cCg>cTg	p.P200L	NADK_ENST00000378625.1_Missense_Mutation_p.P345L|NADK_ENST00000344463.4_Missense_Mutation_p.P345L|NADK_ENST00000492768.1_5'Flank|NADK_ENST00000341991.3_Missense_Mutation_p.P200L|NADK_ENST00000342348.5_Missense_Mutation_p.P168L	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase	200					ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	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;5.61e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		GGCCATGACCGGAGGGACGCT	0.617																																						ENST00000344463.4																			0				NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17						c.(1033-1035)cCg>cTg		NAD kinase							133	133	133					1																	1686902		2203	4300	6503	SO:0001583	missense	65220				ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding	g.chr1:1686902G>A	BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.599C>T	1.37:g.1686902G>A	ENSP00000341679:p.Pro200Leu					NADK_ENST00000342348.5_Missense_Mutation_p.P168L|NADK_ENST00000341991.3_Missense_Mutation_p.P200L|NADK_ENST00000341426.5_Missense_Mutation_p.P200L|NADK_ENST00000378625.1_Missense_Mutation_p.P345L	p.P345L			O95544	NADK_HUMAN		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)	9	1255	-	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;5.61e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	200					A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	Missense_Mutation	SNP	ENST00000341426.5	37	c.1034C>T	CCDS30565.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348749	0.82132	.	.	ENSG00000008130	ENST00000341426;ENST00000341991;ENST00000378625;ENST00000344463;ENST00000342348;ENST00000400922	T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	5.11	4.2	0.49525	ATP-NAD kinase, PpnK-type, alpha/beta (1);ATP-NAD kinase, PpnK-type (1);	0.000000	0.85682	D	0.000000	D	0.85600	0.5734	H	0.94771	3.58	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	0.88917	0.3363	10	0.87932	D	0	-29.967	12.5913	0.56445	0.082:0.0:0.918:0.0	.	168;345;345;200	F5GXR5;Q9H2P2;Q5QPS4;O95544	.;.;.;NADK_HUMAN	L	200;200;345;345;168;168	ENSP00000341679:P200L;ENSP00000344340:P200L;ENSP00000367890:P345L;ENSP00000340925:P345L;ENSP00000339727:P168L;ENSP00000383713:P168L	ENSP00000341679:P200L	P	-	2	0	NADK	1676762	1.000000	0.71417	0.956000	0.39512	0.811000	0.45836	9.385000	0.97223	1.289000	0.44618	0.462000	0.41574	CCG		0.617	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002769.1	NM_023018		4	195	0	0	0	0.000248	0	4	195					A	1686902	G	A	1686902	3	1	219	1	0	0	0	0	1	0	0	0	10137	1116	39	1	765	1	NADK	1	1686902	Missense_Mutation	SNP	G	TCGA-EL-A3GY-01A-21D-A202-08		1686902	247563719	1	4590											
LRRC42	115353	broad.mit.edu	37	chr1	54426067	54426067	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaggataattgtttatctgAtgctggggtgcggaagatga	15	3	1	3			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr1:54426067A>T	ENST00000371370.3	+	5	1165	c.644A>T	c.(643-645)gAt>gTt	p.D215V	LRRC42_ENST00000319223.4_Missense_Mutation_p.D215V	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	215										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						TGTTTATCTGATGCTGGGGTG	0.368																																						ENST00000371370.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						c.(643-645)gAt>gTt		leucine rich repeat containing 42							140	139	139					1																	54426067		2203	4300	6503	SO:0001583	missense	115353							g.chr1:54426067A>T	AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.644A>T	1.37:g.54426067A>T	ENSP00000360421:p.Asp215Val					LRRC42_ENST00000319223.4_Missense_Mutation_p.D215V	p.D215V	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN			5	1165	+			215					D3DQ46|Q8N2Q8	Missense_Mutation	SNP	ENST00000371370.3	37	c.644A>T	CCDS585.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.709431	0.89018	.	.	ENSG00000116212	ENST00000371370;ENST00000319223;ENST00000444987	T;T;T	0.33216	5.32;5.32;1.42	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.43255	0.1239	L	0.29908	0.895	0.80722	D	1	D;D	0.59767	0.986;0.977	D;P	0.63957	0.92;0.834	T	0.33803	-0.9854	10	0.62326	D	0.03	-19.0308	16.5479	0.84454	1.0:0.0:0.0:0.0	.	215;215	E7EP35;Q9Y546	.;LRC42_HUMAN	V	215	ENSP00000360421:D215V;ENSP00000318185:D215V;ENSP00000389368:D215V	ENSP00000318185:D215V	D	+	2	0	LRRC42	54198655	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.090000	0.89526	2.371000	0.80710	0.533000	0.62120	GAT		0.368	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023250.1	NM_052940		22	140	0	0	0	0.003954	0	22	140					T	54426067	A	T	54426067	3	4	219	1	0	0	0	0	1	0	0	0	9000	333	12	5	654	5	LRRC42	1	54426067	Missense_Mutation	SNP	A	TCGA-EL-A3GY-01A-21D-A202-08	52739165	54426067	194824554	2	4591											
CD48	962	broad.mit.edu	37	chr1	160651146	160651146	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaagggccttttgtccccAtaccaggtgtagtttacaga	12	9	0	1			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr1:160651146A>G	ENST00000368046.3	-	3	585	c.498T>C	c.(496-498)taT>taC	p.Y166Y	RP11-404F10.2_ENST00000598917.2_RNA|RP11-404F10.2_ENST00000443928.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	166	Ig-like C2-type 2.				blood coagulation (GO:0007596)|defense response (GO:0006952)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TTTTGTCCCCATACCAGGTGT	0.448																																						ENST00000368046.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10						c.(496-498)taT>taC		CD48 molecule							171	158	162					1																	160651146		2203	4300	6503	SO:0001819	synonymous_variant	962				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding	g.chr1:160651146A>G	BC016182	CCDS1208.1, CCDS72955.1	1q21.3-q22	2013-01-29	2006-03-31		ENSG00000117091	ENSG00000117091		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1683	protein-coding gene	gene with protein product		109530	"CD48 antigen (B-cell membrane protein)", "CD48 molecule "	BCM1		2828034	Standard	NM_001256030		Approved	BLAST, mCD48, hCD48, SLAMF2	uc001fwo.2	P09326	OTTHUMG00000024009	ENST00000368046.3:c.498T>C	1.37:g.160651146A>G						RP11-404F10.2_ENST00000443928.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA	p.Y166Y	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		3	585	-	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		166			Ig-like C2-type 2.		Q5U055|Q8MGR0	Silent	SNP	ENST00000368046.3	37	c.498T>C	CCDS1208.1																																																																																				0.448	CD48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060471.1	NM_001778		4	230	0	0	0	0.001168	0	4	230					G	160651146	A	G	160651146	2	3	219	1	0	0	0	0	0	0	0	1	3020	224	8	3		3	CD48	1	160651146	Silent	SNP	A	TCGA-EL-A3GY-01A-21D-A202-08	106225079	160651146	88599475	3	4592											
PM20D1	148811	broad.mit.edu	37	chr1	205814502	205814502	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccgaccatagatgatgccaTcacgctccaacccagagaat	7	15	1	3			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr1:205814502T>C	ENST00000367136.4	-	3	484	c.440A>G	c.(439-441)gAt>gGt	p.D147G	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	147					negative regulation of neuron death (GO:1901215)|regulation of defense response to virus by host (GO:0050691)|regulation of viral process (GO:0050792)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|peptidase activity (GO:0008233)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GATGATGCCATCACGCTCCAA	0.567																																						ENST00000367136.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28						c.(439-441)gAt>gGt		peptidase M20 domain containing 1							105	100	101					1																	205814502		2203	4300	6503	SO:0001583	missense	148811					extracellular region	metal ion binding|peptidase activity	g.chr1:205814502T>C		CCDS1460.1	1q32.1	2008-02-05			ENSG00000162877	ENSG00000162877			26518	protein-coding gene	gene with protein product							Standard	NM_152491		Approved	FLJ32569, Cps1	uc001hdj.3	Q6GTS8	OTTHUMG00000035999	ENST00000367136.4:c.440A>G	1.37:g.205814502T>C	ENSP00000356104:p.Asp147Gly					PM20D1_ENST00000460624.1_5'UTR	p.D147G	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)		3	484	-	Breast(84;0.201)		147					Q6P4E3|Q96DM4	Missense_Mutation	SNP	ENST00000367136.4	37	c.440A>G	CCDS1460.1	.	.	.	.	.	.	.	.	.	.	T	9.945	1.218526	0.22373	.	.	ENSG00000162877	ENST00000367136	T	0.09538	2.97	6.04	4.91	0.64330	.	0.344279	0.36519	N	0.002557	T	0.11239	0.0274	L	0.41027	1.25	0.32759	N	0.505402	B	0.31581	0.329	B	0.36766	0.232	T	0.13980	-1.0489	10	0.19590	T	0.45	.	11.9696	0.53055	0.0:0.0681:0.0:0.9319	.	147	Q6GTS8	P20D1_HUMAN	G	147	ENSP00000356104:D147G	ENSP00000356104:D147G	D	-	2	0	PM20D1	204081125	1.000000	0.71417	0.868000	0.34077	0.000000	0.00434	4.587000	0.60991	1.102000	0.41551	-0.441000	0.05720	GAT		0.567	PM20D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087736.1	NM_152491		4	172	0	0	0	0.001168	0	4	172					C	205814502	T	C	205814502	3	2	219	1	0	0	0	0	1	0	0	0	12128	1435	50	3	1112	3	PM20D1	1	205814502	Missense_Mutation	SNP	T	TCGA-EL-A3GY-01A-21D-A202-08	45163356	205814502	43436119	4	4593											
MBOAT2	129642	broad.mit.edu	37	chr2	9083336	9083336	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgcatgttctccactccTatgatgatcatgatacagta	7	9	2	3			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr2:9083336T>C	ENST00000305997.3	-	3	477	c.279A>G	c.(277-279)atA>atG	p.I93M	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	93					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TCTCCACTCCTATGATGATCA	0.318																																					Ovarian(194;1699 3813 22401)	ENST00000305997.3																		MBOAT2/PRKCE(2)	0				endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15						c.(277-279)atA>atG		membrane bound O-acyltransferase domain containing 2							91	86	88					2																	9083336		2203	4300	6503	SO:0001583	missense	129642				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr2:9083336T>C	BC016005	CCDS1660.1	2p25	2008-02-05	2006-06-29	2006-06-29	ENSG00000143797	ENSG00000143797			25193	protein-coding gene	gene with protein product		611949	"O-acyltransferase (membrane bound) domain containing 2"	OACT2			Standard	NM_138799		Approved	FLJ14415, FLJ90298	uc002qzg.1	Q6ZWT7	OTTHUMG00000090363	ENST00000305997.3:c.279A>G	2.37:g.9083336T>C	ENSP00000302177:p.Ile93Met					MBOAT2_ENST00000486484.1_5'UTR	p.I93M	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN			3	477	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		93					A9EDR2|Q8NCE7|Q96KY4	Missense_Mutation	SNP	ENST00000305997.3	37	c.279A>G	CCDS1660.1	.	.	.	.	.	.	.	.	.	.	T	13.56	2.272224	0.40194	.	.	ENSG00000143797	ENST00000305997;ENST00000462696	T	0.10288	2.89	4.62	2.2	0.27929	.	0.539104	0.20312	N	0.094805	T	0.08088	0.0202	L	0.34521	1.04	0.26431	N	0.97594	B;P	0.38300	0.396;0.626	B;B	0.39068	0.289;0.289	T	0.23013	-1.0200	10	0.34782	T	0.22	-10.2583	6.1299	0.20199	0.1438:0.0799:0.0:0.7763	.	93;93	B7Z3I3;Q6ZWT7	.;MBOA2_HUMAN	M	93;70	ENSP00000302177:I93M	ENSP00000302177:I93M	I	-	3	3	MBOAT2	9000787	0.990000	0.36364	0.936000	0.37596	0.952000	0.60782	0.717000	0.25851	0.283000	0.22279	0.459000	0.35465	ATA		0.318	MBOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206735.1	NM_138799		3	105	0	0	0	0.000248	0	3	105					C	9083336	T	C	9083336	3	2	219	1	0	0	0	0	1	0	0	0	9357	1512	53	3	1327	3	MBOAT2	2	9083336	Missense_Mutation	SNP	T	TCGA-EL-A3GY-01A-21D-A202-08		9083336	234116037	5	4594											
USP34	9736	broad.mit.edu	37	chr2	61417450	61417450	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaatttcaactcggttggAgaaatcagactgtaggttct	11	6	3	2			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr2:61417450A>G	ENST00000398571.2	-	78	9905	c.9829T>C	c.(9829-9831)Tcc>Ccc	p.S3277P	AHSA2_ENST00000394457.3_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3277					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)			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)			ACTCGGTTGGAGAAATCAGAC	0.408																																						ENST00000398571.2																			0				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.(9829-9831)Tcc>Ccc		ubiquitin specific peptidase 34							115	108	110					2																	61417450		1826	4092	5918	SO:0001583	missense	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.chr2:61417450A>G	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.9829T>C	2.37:g.61417450A>G	ENSP00000381577:p.Ser3277Pro						p.S3277P	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		78	9905	-			3277					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.9829T>C	CCDS42686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.48|12.48	1.951867|1.951867	0.34471|0.34471	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000411912|ENST00000263989;ENST00000398569;ENST00000398571;ENST00000436269	.|T	.|0.67865	.|-0.29	5.87|5.87	3.42|3.42	0.39159|0.39159	.|.	.|0.330309	.|0.38381	.|N	.|0.001720	T|T	0.33760|0.33760	0.0874|0.0874	N|N	0.02011|0.02011	-0.69|-0.69	0.25825|0.25825	N|N	0.984232|0.984232	.|B	.|0.17268	.|0.021	.|B	.|0.17722	.|0.019	T|T	0.15350|0.15350	-1.0440|-1.0440	5|10	.|0.30854	.|T	.|0.27	.|.	4.1964|4.1964	0.10445|0.10445	0.2718:0.1331:0.0:0.5952|0.2718:0.1331:0.0:0.5952	.|.	.|3277	.|Q70CQ2	.|UBP34_HUMAN	P|P	953|3125;3042;3277;155	.|ENSP00000381577:S3277P	.|ENSP00000263989:S3125P	L|S	-|-	2|1	0|0	USP34|USP34	61270954|61270954	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	1.755000|1.755000	0.38379|0.38379	0.515000|0.515000	0.28320|0.28320	-0.339000|-0.339000	0.08088|0.08088	CTC|TCC		0.408	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			3	148	0	0	0	0.000248	0	3	148					G	61417450	A	G	61417450	3	3	219	1	0	0	0	0	1	0	0	0	17062	304	11	3	823	3	USP34	2	61417450	Missense_Mutation	SNP	A	TCGA-EL-A3GY-01A-21D-A202-08	52334114	61417450	181781923	6	4595											
ATP13A4	84239	broad.mit.edu	37	chr3	193120598	193120598	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatactggctttttgactgaTagccgaaacatcttttaatc	7	8	1	2			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr3:193120598T>C	ENST00000342695.4	-	30	3756	c.3434A>G	c.(3433-3435)tAt>tGt	p.Y1145C	ATP13A4_ENST00000400270.2_Missense_Mutation_p.Y161C|ATP13A4_ENST00000482964.1_5'UTR|ATP13A4_ENST00000392443.3_Missense_Mutation_p.Y1126C	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1145						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TTTTGACTGATAGCCGAAACA	0.443																																						ENST00000342695.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.(3433-3435)tAt>tGt		ATPase type 13A4							82	80	80					3																	193120598		2203	4300	6503	SO:0001583	missense	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193120598T>C	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"ATPases / P-type"	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.3434A>G	3.37:g.193120598T>C	ENSP00000339182:p.Tyr1145Cys					ATP13A4_ENST00000400270.2_Missense_Mutation_p.Y161C|ATP13A4_ENST00000482964.1_5'UTR|ATP13A4_ENST00000392443.3_Missense_Mutation_p.Y1126C	p.Y1145C	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	30	3756	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		1145					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.3434A>G	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	T	10.34	1.322831	0.23994	.	.	ENSG00000127249	ENST00000400270;ENST00000392443;ENST00000342695	T;T;T	0.59502	0.26;0.26;0.26	5.3	5.3	0.74995	.	0.000000	0.64402	D	0.000013	T	0.47173	0.1431	L	0.29908	0.895	0.80722	D	1	B	0.18166	0.026	B	0.23419	0.046	T	0.40496	-0.9560	10	0.39692	T	0.17	-22.3835	13.5323	0.61629	0.0:0.0:0.0:1.0	.	1145	Q4VNC1	AT134_HUMAN	C	161;1126;1145	ENSP00000383129:Y161C;ENSP00000376238:Y1126C;ENSP00000339182:Y1145C	ENSP00000339182:Y1145C	Y	-	2	0	ATP13A4	194603292	0.983000	0.35010	0.990000	0.47175	0.211000	0.24417	1.675000	0.37555	2.136000	0.66102	0.486000	0.48141	TAT		0.443	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		3	71	0	0	0	0.004672	0	3	71					C	193120598	T	C	193120598	3	2	219	1	0	0	0	0	1	0	0	0	1126	1406	49	3	160	3	ATP13A4	3	193120598	Missense_Mutation	SNP	T	TCGA-EL-A3GY-01A-21D-A202-08		193120598	4901832	7	4596											
UGT2A2	10941	broad.mit.edu	37	chr4	70505149	70505149	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggagaatcgggattggagttGatgaatagagttgctgatga	16	2	0	6			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr4:70505149G>A	ENST00000503640.1	-	1	771				UGT2A2_ENST00000457664.2_Silent_p.I70I|UGT2A1_ENST00000514019.1_Silent_p.I271I|UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000286604.4_Intron	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus						cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GATTGGAGTTGATGAATAGAG	0.358																																						ENST00000457664.2																			0											c.(208-210)atC>atT									134	133	133					4																	70505149		1860	4092	5952	SO:0001627	intron_variant	0							g.chr4:70505149G>A	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"UDP glucuronosyltransferases"	12542	protein-coding gene	gene with protein product		604716	"UDP glycosyltransferase 2 family, polypeptide A1", "UDP glucuronosyltransferase 2 family, polypeptide A1"			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.715+7498C>T	4.37:g.70505149G>A						UGT2A1_ENST00000503640.1_Intron|UGT2A1_ENST00000514019.1_Silent_p.I271I|UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000512704.1_Intron	p.I70I	NM_001105677.2	NP_001099147.2					1	209	-								B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Silent	SNP	ENST00000503640.1	37	c.210C>T	CCDS3529.1																																																																																				0.358	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		8	133	0	0	0	0.00308	0	8	133					A	70505149	G	A	70505149	1	1	219	0	1	0	0	0	0	0	0	0	16951	1280	45	2		2	UGT2A2	4	70505149	Intron	SNP	G	TCGA-EL-A3GY-01A-21D-A202-08		70505149	120649127	8	4597											
PCDHGA5	56110	broad.mit.edu	37	chr5	140745315	140745315	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cagaggtgtctctatcttctCtgtgacagcccatgaccccg	9	14	3	3			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr5:140745315C>G	ENST00000518069.1	+	1	1418	c.1418C>G	c.(1417-1419)tCt>tGt	p.S473C	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	473	Cadherin 5. {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)			TCTATCTTCTCTGTGACAGCC	0.532																																						ENST00000518069.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18						c.(1417-1419)tCt>tGt									120	129	126					5																	140745315		1963	4176	6139	SO:0001583	missense	0							g.chr5:140745315C>G	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.1418C>G	5.37:g.140745315C>G	ENSP00000429834:p.Ser473Cys					PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.S473C	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	1418	+								Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	37	c.1418C>G	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	8.138	0.784536	0.16189	.	.	ENSG00000253485	ENST00000518069	T	0.01887	4.58	5.18	4.24	0.50183	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.05135	0.0137	L	0.58925	1.835	0.09310	N	1	P;B	0.37636	0.603;0.203	B;B	0.41135	0.348;0.288	T	0.16689	-1.0394	9	0.66056	D	0.02	.	14.5741	0.68232	0.0:0.7177:0.2823:0.0	.	473;473	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	C	473	ENSP00000429834:S473C	ENSP00000429834:S473C	S	+	2	0	PCDHGA5	140725499	0.000000	0.05858	0.820000	0.32676	0.464000	0.32679	0.182000	0.16900	2.570000	0.86706	0.563000	0.77884	TCT		0.532	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		16	275	0	0	0	0.004007	0	16	275					G	140745315	C	G	140745315	3	3	219	1	0	0	0	0	1	0	0	0	11557	913	32	4	1420	4	PCDHGA5	5	140745315	Missense_Mutation	SNP	C	TCGA-EL-A3GY-01A-21D-A202-08		140745315	40169945	9	4598											
BTN2A1	11120	broad.mit.edu	37	chr6	26465519	26465519	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tattggatcaacaaactccaAaaggaaaaaaagattctgtc	6	7	2	1			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr6:26465519A>T	ENST00000312541.5	+	5	1067	c.819A>T	c.(817-819)caA>caT	p.Q273H	BTN2A1_ENST00000429381.1_Missense_Mutation_p.Q273H|BTN2A1_ENST00000541522.1_Missense_Mutation_p.Q212H|BTN2A1_ENST00000469185.1_Missense_Mutation_p.Q273H	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	273					lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						ACAAACTCCAAAAGGAAAAAA	0.433																																						ENST00000429381.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						c.(817-819)caA>caT		butyrophilin, subfamily 2, member A1							136	138	137					6																	26465519		2203	4300	6503	SO:0001583	missense	11120				lipid metabolic process	integral to plasma membrane		g.chr6:26465519A>T	U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			ENSG00000112763	ENSG00000112763		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1136	protein-coding gene	gene with protein product		613590				9382921, 9149941	Standard	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	Q7KYR7	OTTHUMG00000014457	ENST00000312541.5:c.819A>T	6.37:g.26465519A>T	ENSP00000312158:p.Gln273His					BTN2A1_ENST00000469185.1_Missense_Mutation_p.Q273H|BTN2A1_ENST00000312541.5_Missense_Mutation_p.Q273H|BTN2A1_ENST00000541522.1_Missense_Mutation_p.Q212H	p.Q273H			Q7KYR7	BT2A1_HUMAN			5	1031	+			273					B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Missense_Mutation	SNP	ENST00000312541.5	37	c.819A>T	CCDS4613.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.771|5.771	0.326684|0.326684	0.10900|0.10900	.|.	.|.	ENSG00000112763|ENSG00000112763	ENST00000480218|ENST00000312541;ENST00000541522;ENST00000429381;ENST00000265424;ENST00000469185	.|T;T;T;T	.|0.76839	.|-0.49;1.09;-1.05;-1.03	3.78|3.78	-5.26|-5.26	0.02772|0.02772	.|.	.|0.454507	.|0.18608	.|N	.|0.136232	T|T	0.32346|0.32346	0.0826|0.0826	L|L	0.41356|0.41356	1.27|1.27	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.06786	.|0.0;0.0;0.001	.|B;B;B	.|0.06405	.|0.001;0.002;0.001	T|T	0.37753|0.37753	-0.9692|-0.9692	5|10	.|0.15066	.|T	.|0.55	.|.	1.9264|1.9264	0.03318|0.03318	0.138:0.272:0.1269:0.4631|0.138:0.272:0.1269:0.4631	.|.	.|212;273;273	.|B4DLP9;Q96AV7;Q7KYR7	.|.;.;BT2A1_HUMAN	I|H	22|273;212;273;259;273	.|ENSP00000312158:Q273H;ENSP00000443909:Q212H;ENSP00000416945:Q273H;ENSP00000419043:Q273H	.|ENSP00000265424:Q259H	K|Q	+|+	2|3	0|2	BTN2A1|BTN2A1	26573498|26573498	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.025000|0.025000	0.11179|0.11179	-2.644000|-2.644000	0.00862|0.00862	-1.504000|-1.504000	0.01810|0.01810	-0.714000|-0.714000	0.03626|0.03626	AAA|CAA		0.433	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040122.2	NM_007049		11	166	0	0	0	0.008291	0	11	166					T	26465519	A	T	26465519	3	4	219	1	0	0	0	0	1	0	0	0	1560	11	1	5	833	5	BTN2A1	6	26465519	Missense_Mutation	SNP	A	TCGA-EL-A3GY-01A-21D-A202-08		26465519	144649548	10	4599											
ETV1	2115	broad.mit.edu	37	chr7	13971268	13971268	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaagccttgtggtgggaaggGgatgtttggctcagacatct	15	6	2	1			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr7:13971268G>C	ENST00000430479.1	-	9	1328	c.661C>G	c.(661-663)Ccc>Gcc	p.P221A	ETV1_ENST00000403685.1_Missense_Mutation_p.P203A|ETV1_ENST00000242066.5_Missense_Mutation_p.P203A|ETV1_ENST00000405192.2_Missense_Mutation_p.P221A|ETV1_ENST00000420159.2_Missense_Mutation_p.P163A|ETV1_ENST00000403527.1_Missense_Mutation_p.P181A|ETV1_ENST00000405358.4_Missense_Mutation_p.P235A|ETV1_ENST00000399357.3_Missense_Mutation_p.P118A|ETV1_ENST00000405218.2_Missense_Mutation_p.P221A|ETV1_ENST00000343495.5_Missense_Mutation_p.P203A|ETV1_ENST00000476720.2_5'UTR	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	221					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						GGTGGGAAGGGGATGTTTGGC	0.552			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"																																	ENST00000343495.5				Dom	yes		7	7p22	2115	T	ets variant gene 1			"M, E"	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"		"Ewing sarcoma, prostate"	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(607-609)Ccc>Gcc		ets variant 1							146	143	144					7																	13971268		2024	4193	6217	SO:0001583	missense	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:13971268G>C		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"ets variant gene 1"			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.661C>G	7.37:g.13971268G>C	ENSP00000405327:p.Pro221Ala					ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000405218.2_Missense_Mutation_p.P221A|ETV1_ENST00000405358.4_Missense_Mutation_p.P235A|ETV1_ENST00000403685.1_Missense_Mutation_p.P203A|ETV1_ENST00000405192.2_Missense_Mutation_p.P221A|ETV1_ENST00000430479.1_Missense_Mutation_p.P221A|ETV1_ENST00000242066.5_Missense_Mutation_p.P203A|ETV1_ENST00000403527.1_Missense_Mutation_p.P181A|ETV1_ENST00000420159.2_Missense_Mutation_p.P163A|ETV1_ENST00000399357.3_Missense_Mutation_p.P118A	p.P203A			P50549	ETV1_HUMAN			8	1345	-			221					A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	ENST00000430479.1	37	c.607C>G	CCDS55088.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347044	0.82022	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000399357;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685;ENST00000438956;ENST00000443608	T;T;T;T;T;T;T;T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76	6.13	6.13	0.99165	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.051858	0.85682	D	0.000000	T	0.55273	0.1910	M	0.73598	2.24	0.80722	D	1	B;B;P;D;B;B;B;B	0.71674	0.349;0.009;0.489;0.998;0.314;0.349;0.005;0.011	B;B;B;D;B;B;B;B	0.78314	0.171;0.012;0.253;0.991;0.423;0.298;0.018;0.021	T	0.51100	-0.8748	10	0.59425	D	0.04	.	20.8401	0.99726	0.0:0.0:1.0:0.0	.	232;203;235;163;118;181;163;221	Q59GA7;P50549-2;B5MCT2;F5GXR2;B7Z9P2;E9PHB1;B7Z618;P50549	.;.;.;.;.;.;.;ETV1_HUMAN	A	221;203;203;163;118;221;235;181;221;203;163;118	ENSP00000405327:P221A;ENSP00000242066:P203A;ENSP00000340853:P203A;ENSP00000411626:P163A;ENSP00000382293:P118A;ENSP00000385381:P221A;ENSP00000384085:P235A;ENSP00000384138:P181A;ENSP00000385551:P221A;ENSP00000385686:P203A;ENSP00000393078:P163A;ENSP00000394710:P118A	ENSP00000242066:P203A	P	-	1	0	ETV1	13937793	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.225000	0.95219	2.932000	0.99384	0.644000	0.83932	CCC		0.552	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		5	58	0	0	0	0.001984	0	5	58					C	13971268	G	C	13971268	3	2	219	1	0	0	0	0	1	0	0	0	5277	1232	43	4	796	4	ETV1	7	13971268	Missense_Mutation	SNP	G	TCGA-EL-A3GY-01A-21D-A202-08		13971268	145167395	11	4600											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		32	63	0	0	0	0.003271	0	32	63					T	140453136	A	T	140453136	3	4	219	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3GY-01A-21D-A202-08	126481868	140453136	18685527	12	4601											
CSGALNACT1	55790	broad.mit.edu	37	chr8	19316053	19316053	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcactttcatgatggggccGaatggtcgaaataagatgag	12	6	2	3	rs142456632	byFrequency	TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr8:19316053G>A	ENST00000454498.2	-	5	1748	c.735C>T	c.(733-735)ttC>ttT	p.F245F	CSGALNACT1_ENST00000544602.1_Silent_p.F245F|CSGALNACT1_ENST00000311540.4_Silent_p.F245F|CSGALNACT1_ENST00000332246.6_Silent_p.F245F|CSGALNACT1_ENST00000522854.1_Silent_p.F245F|CSGALNACT1_ENST00000518542.1_5'UTR	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	245					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		TGATGGGGCCGAATGGTCGAA	0.458																																						ENST00000454498.2																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(733-735)ttC>ttT		chondroitin sulfate N-acetylgalactosaminyltransferase 1		G	,	1,4405	2.1+/-5.4	0,1,2202	320	295	303		735,735	-2.9	0.8	8	dbSNP_134	303	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous,coding-synonymous	CSGALNACT1	NM_001130518.1,NM_018371.4	,	0,13,6490	AA,AG,GG		0.1395,0.0227,0.1	,	245/533,245/533	19316053	13,12993	2203	4300	6503	SO:0001819	synonymous_variant	55790				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity	g.chr8:19316053G>A	AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"Beta 4-glycosyltransferases"	24290	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase"					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.735C>T	8.37:g.19316053G>A						CSGALNACT1_ENST00000311540.4_Silent_p.F245F|CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000332246.6_Silent_p.F245F|CSGALNACT1_ENST00000522854.1_Silent_p.F245F|CSGALNACT1_ENST00000544602.1_Silent_p.F245F	p.F245F	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN		Colorectal(111;0.182)	5	1748	-			245					B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Silent	SNP	ENST00000454498.2	37	c.735C>T	CCDS6010.1																																																																																				0.458	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1	NM_018371		6	354	0	0	0	0.001984	0	6	354					A	19316053	G	A	19316053	2	1	219	1	0	0	0	0	0	0	0	1	3938	1049	37	1		1	CSGALNACT1	8	19316053	Silent	SNP	G	TCGA-EL-A3GY-01A-21D-A202-08		19316053	127047969	13	4602											
NBN	4683	broad.mit.edu	37	chr8	90958472	90958472	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtgatctaaattcagtcaAtaacagcttttttggaagca	7	7	3	1			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr8:90958472A>G	ENST00000265433.3	-	13	2120	c.1966T>C	c.(1966-1968)Ttg>Ctg	p.L656L	NBN_ENST00000409330.1_Silent_p.L574L	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	656					blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			AATTCAGTCAATAACAGCTTT	0.318								Homologous recombination																														ENST00000265433.3																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(1966-1968)Ttg>Ctg	Homologous recombination	nibrin							121	125	123					8																	90958472		2203	4299	6502	SO:0001819	synonymous_variant	4683				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	g.chr8:90958472A>G	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"Nijmegen breakage syndrome 1 (nibrin)"	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.1966T>C	8.37:g.90958472A>G						NBN_ENST00000409330.1_Silent_p.L574L	p.L656L	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		13	2120	-			656					B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Silent	SNP	ENST00000265433.3	37	c.1966T>C	CCDS6249.1																																																																																				0.318	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688		4	146	0	0	0	0.000248	0	4	146					G	90958472	A	G	90958472	2	3	219	1	0	0	0	0	0	0	0	1	10191	98	4	3		3	NBN	8	90958472	Silent	SNP	A	TCGA-EL-A3GY-01A-21D-A202-08	71642419	90958472	55405550	14	4603											
TG	7038	broad.mit.edu	37	chr8	133980057	133980058	+	Frame_Shift_Ins	INS	-	-	TT													ggttgtgtgcaggagcactcINStttctgtcagctcgcagaga							TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr8:133980057_133980058insTT	ENST00000220616.4	+	31	5745_5746	c.5705_5706insTT	c.(5704-5709)tctttcfs	p.SF1902fs	TG_ENST00000377869.1_Frame_Shift_Ins_p.SF1845fs|TG_ENST00000519543.1_Frame_Shift_Ins_p.SF56fs|TG_ENST00000542445.1_Frame_Shift_Ins_p.SF272fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1902					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAGGAGCACTCTTTCTGTCAGC	0.495																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(5704-5706)tttfs		thyroglobulin																																				SO:0001589	frameshift_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133980057_133980058insTT	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.5706_5707dupTT	8.37:g.133980058_133980059dupTT	ENSP00000220616:p.Ser1902fs					TG_ENST00000542445.1_Frame_Shift_Ins_p.F272fs|TG_ENST00000519543.1_Frame_Shift_Ins_p.F56fs|TG_ENST00000377869.1_Frame_Shift_Ins_p.F1845fs	p.F1902fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	31	5745_5746	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1902					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Frame_Shift_Ins	INS	ENST00000220616.4	37	c.5705_5706insTT	CCDS34944.1																																																																																				0.495	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		7	58						7	58	---	---	---	---	TT	133980058	-	TT	133980057	7	5	219	1	0	1	1	0	0	0	0	0	15810	913	32	0	5827	0	TG	8	133980057	Frame_Shift_Ins	INS	-	TCGA-EL-A3GY-01A-21D-A202-08	43021585	133980057	12383965	15	4604											
EIF2C2	27161	broad.mit.edu	37	chr8	141549494	141549494	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaaggtgatcccgggctgGtagtctttttctagcttgat	12	7	2	3			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr8:141549494G>A	ENST00000220592.5	-	16	2206	c.2094C>T	c.(2092-2094)taC>taT	p.Y698Y	AGO2_ENST00000519980.1_Silent_p.Y698Y	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	698	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)										TCCCGGGCTGGTAGTCTTTTT	0.557																																						ENST00000220592.5																			0											c.(2092-2094)taC>taT		argonaute RISC catalytic component 2							105	92	96					8																	141549494		2203	4300	6503	SO:0001819	synonymous_variant	27161							g.chr8:141549494G>A	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.2094C>T	8.37:g.141549494G>A						AGO2_ENST00000519980.1_Silent_p.Y698Y	p.Y698Y	NM_012154.3	NP_036286.2					16	2206	-								Q8TCZ5|Q8WV58|Q96ID1	Silent	SNP	ENST00000220592.5	37	c.2094C>T	CCDS6380.1																																																																																				0.557	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			11	105	0	0	0	0.008291	0	11	105					A	141549494	G	A	141549494	2	1	219	1	0	0	0	0	0	0	0	1	5006	1256	44	2		2	EIF2C2	8	141549494	Silent	SNP	G	TCGA-EL-A3GY-01A-21D-A202-08	7569437	141549494	4814528	16	4605											
ABL1	25	broad.mit.edu	37	chr9	133753888	133753888	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccaggtgtatgagctgctaGagaaggactaccgcatggag	14	9	0	2			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr9:133753888G>A	ENST00000318560.5	+	8	1738	c.1357G>A	c.(1357-1359)Gag>Aag	p.E453K		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	453	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)	p.E453Q(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	TGAGCTGCTAGAGAAGGACTA	0.507			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"T, Mis"	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"BCR, ETV6, NUP214"		"CML, ALL, T-ALL"		1	Substitution - Missense(1)	p.E453Q(1)	lung(1)	breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(1357-1359)Gag>Aag		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						171	168	169					9																	133753888		2203	4300	6503	SO:0001583	missense	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133753888G>A	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1357G>A	9.37:g.133753888G>A	ENSP00000323315:p.Glu453Lys						p.E453K	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	8	1738	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	453			Protein kinase.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	c.1357G>A	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	G	33	5.200620	0.94997	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	D;D	0.82255	-1.59;-1.59	5.01	4.11	0.48088	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.108051	0.64402	D	0.000008	D	0.84991	0.5595	L	0.33485	1.01	0.80722	D	1	P;P	0.52842	0.956;0.956	P;D	0.64776	0.881;0.929	D	0.86242	0.1644	10	0.87932	D	0	.	12.6609	0.56813	0.0804:0.0:0.9196:0.0	.	453;490	P00519;Q59FK4	ABL1_HUMAN;.	K	268;472;453	ENSP00000361423:E472K;ENSP00000323315:E453K	ENSP00000323315:E453K	E	+	1	0	ABL1	132743709	1.000000	0.71417	0.990000	0.47175	0.893000	0.52053	7.885000	0.87282	1.236000	0.43740	0.655000	0.94253	GAG		0.507	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		5	303	0	0	0	0.001168	0	5	303					A	133753888	G	A	133753888	3	1	219	1	0	0	0	0	1	0	0	0	92	943	33	2	1527	2	ABL1	9	133753888	Missense_Mutation	SNP	G	TCGA-EL-A3GY-01A-21D-A202-08		133753888	7459543	17	4606											
ITGB1	3688	broad.mit.edu	37	chr10	33215004	33215004	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgttgtgctaatgtaaGgcatcacagtcttttccaca	9	9	2	0			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr10:33215004G>C	ENST00000396033.2	-	6	716	c.581C>G	c.(580-582)cCt>cGt	p.P194R	ITGB1_ENST00000374956.4_Missense_Mutation_p.P194R|ITGB1_ENST00000423113.1_Missense_Mutation_p.P194R|ITGB1_ENST00000484088.1_5'UTR|ITGB1_ENST00000302278.3_Missense_Mutation_p.P194R	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	194	VWFA.				axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|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 endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	GCTAATGTAAGGCATCACAGT	0.403																																						ENST00000396033.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(580-582)cCt>cGt		integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)							116	105	108					10																	33215004		2203	4300	6503	SO:0001583	missense	3688				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	g.chr10:33215004G>C	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"CD molecules", "Integrins"	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.581C>G	10.37:g.33215004G>C	ENSP00000379350:p.Pro194Arg					ITGB1_ENST00000302278.3_Missense_Mutation_p.P194R|ITGB1_ENST00000374956.4_Missense_Mutation_p.P194R|ITGB1_ENST00000484088.1_5'UTR|ITGB1_ENST00000423113.1_Missense_Mutation_p.P194R	p.P194R	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN			6	716	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	194			VWFA.		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	ENST00000396033.2	37	c.581C>G	CCDS7174.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.993930	0.93167	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956	D;D;D;D	0.96200	-3.94;-3.94;-3.94;-3.94	5.74	5.74	0.90152	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.98645	0.9546	H	0.96048	3.76	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	1.0;1.0;1.0;0.999;1.0	D	0.99267	1.0892	10	0.87932	D	0	.	19.9145	0.97053	0.0:0.0:1.0:0.0	.	194;194;194;194;194	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	R	194	ENSP00000379350:P194R;ENSP00000388694:P194R;ENSP00000303351:P194R;ENSP00000364094:P194R	ENSP00000303351:P194R	P	-	2	0	ITGB1	33255010	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.709000	0.92574	0.655000	0.94253	CCT		0.403	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		6	108	0	0	0	0.001984	0	6	108					C	33215004	G	C	33215004	3	2	219	1	0	0	0	0	1	0	0	0	7890	1000	35	4	2097	4	ITGB1	10	33215004	Missense_Mutation	SNP	G	TCGA-EL-A3GY-01A-21D-A202-08		33215004	102319743	18	4607											
DLAT	1737	broad.mit.edu	37	chr11	111933176	111933176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacactcagttgtgatcacCgggtggtggatggagcagtt	14	7	2	1			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr11:111933176C>T	ENST00000280346.6	+	14	2520	c.1861C>T	c.(1861-1863)Cgg>Tgg	p.R621W	DLAT_ENST00000393051.1_Missense_Mutation_p.R516W|DLAT_ENST00000537636.1_Missense_Mutation_p.R392W	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	621	Catalytic. {ECO:0000250}.				cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		TTGTGATCACCGGGTGGTGGA	0.388																																						ENST00000280346.6																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22						c.(1861-1863)Cgg>Tgg		dihydrolipoamide S-acetyltransferase	NADH(DB00157)						174	179	178					11																	111933176		2201	4297	6498	SO:0001583	missense	1737				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding	g.chr11:111933176C>T	Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"E2 component of pyruvate dehydrogenase complex"	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.1861C>T	11.37:g.111933176C>T	ENSP00000280346:p.Arg621Trp					DLAT_ENST00000537636.1_Missense_Mutation_p.R392W|DLAT_ENST00000393051.1_Missense_Mutation_p.R516W	p.R621W	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	14	2520	+		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)	621			Catalytic (By similarity).		Q16783|Q53EP3	Missense_Mutation	SNP	ENST00000280346.6	37	c.1861C>T	CCDS8354.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.884959	0.91814	.	.	ENSG00000150768	ENST00000280346;ENST00000393051;ENST00000531306;ENST00000537636	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	5.98	5.07	0.68467	2-oxoacid dehydrogenase acyltransferase, catalytic domain (1);Chloramphenicol acetyltransferase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.91492	0.7314	H	0.99764	4.76	0.80722	D	1	D;P;D	0.89917	1.0;0.634;1.0	D;B;D	0.87578	0.998;0.207;0.998	D	0.95193	0.8310	10	0.87932	D	0	-1.3782	15.3276	0.74179	0.0:0.933:0.0:0.067	.	621;516;621	Q86YI5;E9PEJ4;P10515	.;.;ODP2_HUMAN	W	621;516;453;392	ENSP00000280346:R621W;ENSP00000376771:R516W;ENSP00000433432:R453W;ENSP00000442427:R392W	ENSP00000280346:R621W	R	+	1	2	DLAT	111438386	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.535000	0.53575	1.541000	0.49316	0.591000	0.81541	CGG		0.388	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	NM_001931		4	212	0	0	0	0.000602	0	4	212					T	111933176	C	T	111933176	3	4	219	1	0	0	0	0	1	0	0	0	4549	643	23	1	1915	1	DLAT	11	111933176	Missense_Mutation	SNP	C	TCGA-EL-A3GY-01A-21D-A202-08		111933176	23073340	19	4608											
HMGB1	3146	broad.mit.edu	37	chr13	31035567	31035569	+	In_Frame_Del	DEL	TCC	TCC	-													cctcctcatcctcttcatctTcctcatcttcctcctcttcc					rs561533151	byFrequency	TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr13:31035567_31035569delTCC	ENST00000405805.1	-	5	1513_1515	c.573_575delGGA	c.(571-576)gaggaa>gaa	p.191_192EE>E	HMGB1_ENST00000399494.1_In_Frame_Del_p.191_192EE>E|HMGB1_ENST00000339872.4_In_Frame_Del_p.191_192EE>E|HMGB1_ENST00000399489.1_3'UTR|HMGB1_ENST00000341423.5_In_Frame_Del_p.191_192EE>E|HMGB1_ENST00000468384.1_5'Flank			P09429	HMGB1_HUMAN	high mobility group box 1	191	Asp/Glu-rich (acidic).				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dendritic cell chemotaxis (GO:0002407)|DNA ligation involved in DNA repair (GO:0051103)|DNA recombination (GO:0006310)|DNA topological change (GO:0006265)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|myeloid dendritic cell activation (GO:0001773)|negative regulation of apoptotic cell clearance (GO:2000426)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron projection development (GO:0031175)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|V(D)J recombination (GO:0033151)	cell surface (GO:0009986)|condensed chromosome (GO:0000793)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|damaged DNA binding (GO:0003684)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		ctcttcatcttcctcatcttcct	0.399														5	0.000998403	0	0	5008	,	,		19779	0.003		0	False		,,,				2504	0.002					ENST00000405805.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8						c.(571-576)gaa>ga		high mobility group box 1				17,3581		6,5,1788						-5.2	0.9		dbSNP_129	17	17,7647		3,11,3818	no	coding	HMGB1	NM_002128.4		9,16,5606	A1A1,A1R,RR		0.2218,0.4725,0.3019				34,11228				SO:0001651	inframe_deletion	3146				base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm	chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr13:31035567_31035569delTCC	D63874	CCDS9335.1	13q12	2011-07-01	2011-04-05	2002-08-16	ENSG00000189403	ENSG00000189403		"High-mobility group / Canonical"	4983	protein-coding gene	gene with protein product	"high mobility group box 1", "Sulfoglucuronyl carbohydrate binding protein", "Amphoterin", "high mobility group protein 1"	163905	"high-mobility group (nonhistone chromosomal) protein 1", "high-mobility group box 1"	HMG1		8661151, 11279268	Standard	NM_002128		Approved	HMG3, SBP-1, DKFZp686A04236	uc001usx.3	P09429	OTTHUMG00000016670	ENST00000405805.1:c.573_575delGGA	13.37:g.31035567_31035569delTCC	ENSP00000384678:p.Glu192del					HMGB1_ENST00000399489.1_3'UTR|HMGB1_ENST00000399494.1_In_Frame_Del_p.EE191del|HMGB1_ENST00000341423.5_In_Frame_Del_p.EE191del|HMGB1_ENST00000339872.4_In_Frame_Del_p.EE191del	p.EE191del			P09429	HMGB1_HUMAN		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)	5	1513_1515	-		Lung SC(185;0.0257)	191			Asp/Glu-rich (acidic).		A5D8W9|Q14321|Q5T7C3|Q6IBE1	In_Frame_Del	DEL	ENST00000405805.1	37	c.573_575delGGA	CCDS9335.1																																																																																				0.399	HMGB1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303998.2	NM_002128		4	4						4	4	---	---	---	---	-	31035569	TCC	-	31035567	7	5	219	1	0	1	0	1	0	0	0	0	7225	1783	62	0	76	0	HMGB1	13	31035567	In_Frame_Del	DEL	TCC	TCGA-EL-A3GY-01A-21D-A202-08		31035567	84134311	20	4609											
NRXN3	9369	broad.mit.edu	37	chr14	79933743	79933743	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgacttcctccagcttcacAtagtgagtacagggccttgg	11	11	1	2			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr14:79933743A>T	ENST00000557594.1	+	2	1380	c.427A>T	c.(427-429)Ata>Tta	p.I143L	NRXN3_ENST00000335750.5_Missense_Mutation_p.I775L|NRXN3_ENST00000554719.1_Missense_Mutation_p.I775L|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000428277.2_Missense_Mutation_p.I143L|NRXN3_ENST00000281127.7_Missense_Mutation_p.I143L	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	143	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCAGCTTCACATAGTGAGTAC	0.512																																						ENST00000281127.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(427-429)Ata>Tta		neurexin 3							87	77	80					14																	79933743		2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79933743A>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.427A>T	14.37:g.79933743A>T	ENSP00000451672:p.Ile143Leu					NRXN3_ENST00000335750.5_Missense_Mutation_p.I775L|NRXN3_ENST00000557594.1_Missense_Mutation_p.I143L|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000428277.2_Missense_Mutation_p.I143L|NRXN3_ENST00000554719.1_Missense_Mutation_p.I775L	p.I143L	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	2	1306	+		Renal(4;0.00876)	143			Laminin G-like.		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000557594.1	37	c.427A>T		.	.	.	.	.	.	.	.	.	.	A	29.4	5.001254	0.93227	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750;ENST00000557594;ENST00000281127;ENST00000428277	T;T;T;T;T	0.71579	-0.11;-0.11;-0.58;-0.58;-0.58	5.93	5.93	0.95920	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.81847	0.4909	L	0.58925	1.835	0.58432	D	0.999999	B;B;P;B	0.47191	0.006;0.143;0.891;0.029	B;B;D;P	0.71414	0.22;0.228;0.973;0.559	T	0.80362	-0.1414	9	.	.	.	.	16.3721	0.83368	1.0:0.0:0.0:0.0	.	143;143;143;775	Q9HDB5-4;Q9HDB5-2;Q9HDB5;Q9Y4C0-3	.;.;NRX3B_HUMAN;.	L	1148;1137;775;775;143;143;143	ENSP00000451648:I775L;ENSP00000338349:I775L;ENSP00000451672:I143L;ENSP00000281127:I143L;ENSP00000394426:I143L	.	I	+	1	0	NRXN3	79003496	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.324000	0.96373	2.257000	0.74773	0.533000	0.62120	ATA		0.512	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		20	93	0	0	0	0.007413	0	20	93					T	79933743	A	T	79933743	3	4	219	1	0	0	0	0	1	0	0	0	10667	217	8	5	2616	5	NRXN3	14	79933743	Missense_Mutation	SNP	A	TCGA-EL-A3GY-01A-21D-A202-08		79933743	27415797	21	4610											
MAP1A	4130	broad.mit.edu	37	chr15	43816306	43816306	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcacaagcatcccttcctccCgtactgaagctacgcagggc	8	16	1	1			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr15:43816306C>A	ENST00000300231.5	+	4	3085	c.2635C>A	c.(2635-2637)Cgt>Agt	p.R879S	MAP1A_ENST00000382031.1_Missense_Mutation_p.R1117S|MAP1A_ENST00000399453.1_Missense_Mutation_p.R879S			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	879					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCCTTCCTCCCGTACTGAAGC	0.562																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(3349-3351)Cgt>Agt		microtubule-associated protein 1A	Estramustine(DB01196)						75	76	75					15																	43816306		2057	4211	6268	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43816306C>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.2635C>A	15.37:g.43816306C>A	ENSP00000300231:p.Arg879Ser					MAP1A_ENST00000300231.5_Missense_Mutation_p.R879S|MAP1A_ENST00000399453.1_Missense_Mutation_p.R879S	p.R1117S			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	3380	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	879					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.3349C>A	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.616846	0.46736	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01560	4.77;4.77;4.77	4.71	4.71	0.59529	.	.	.	.	.	T	0.07458	0.0188	M	0.78637	2.42	0.42037	D	0.991057	D	0.58620	0.983	P	0.52309	0.695	T	0.04333	-1.0959	9	0.72032	D	0.01	-7.1246	17.8619	0.88784	0.0:1.0:0.0:0.0	.	879	P78559	MAP1A_HUMAN	S	1117;879;879	ENSP00000371462:R1117S;ENSP00000382380:R879S;ENSP00000300231:R879S	ENSP00000300231:R879S	R	+	1	0	MAP1A	41603598	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.317000	0.79018	2.432000	0.82394	0.655000	0.94253	CGT		0.562	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		5	109	1	0	0.000602214	0.000602	0.00101803	5	109					A	43816306	C	A	43816306	3	1	219	1	0	0	0	0	1	0	0	0	9227	652	23	4	2637	4	MAP1A	15	43816306	Missense_Mutation	SNP	C	TCGA-EL-A3GY-01A-21D-A202-08		43816306	58715086	22	4611											
CYP11A1	1583	broad.mit.edu	37	chr15	74659919	74659919	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcgtgggggaagacccttgGccagcatgctgtccccacag	14	13	0	1			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr15:74659919G>C	ENST00000268053.6	-	1	162	c.8C>G	c.(7-9)gCc>gGc	p.A3G	CYP11A1_ENST00000467407.1_5'UTR|CTD-2311M21.2_ENST00000562009.1_RNA|CTD-2311M21.3_ENST00000568496.1_RNA|CYP11A1_ENST00000358632.4_5'Flank|CYP11A1_ENST00000541301.1_Missense_Mutation_p.A3G|CYP11A1_ENST00000419019.2_5'Flank	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	3					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	AAGACCCTTGGCCAGCATGCT	0.627																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	ENST00000268053.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(7-9)gCc>gGc		cytochrome P450, family 11, subfamily A, polypeptide 1	Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)						29	30	29					15																	74659919		2197	4296	6493	SO:0001583	missense	1583				C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	g.chr15:74659919G>C	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"Cytochrome P450s"	2590	protein-coding gene	gene with protein product	"cholesterol monooxygenase (side-chain-cleaving)"	118485	"cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.8C>G	15.37:g.74659919G>C	ENSP00000268053:p.Ala3Gly					CYP11A1_ENST00000541301.1_Missense_Mutation_p.A3G|CYP11A1_ENST00000467407.1_5'UTR	p.A3G	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN			1	162	-			3					A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	ENST00000268053.6	37	c.8C>G	CCDS32291.1	.	.	.	.	.	.	.	.	.	.	g	13.22	2.173528	0.38413	.	.	ENSG00000140459	ENST00000268053;ENST00000541301;ENST00000433240;ENST00000416978	T;D;D	0.86694	-1.09;-1.97;-2.16	4.18	2.22	0.28083	.	0.381426	0.23731	N	0.045132	T	0.71307	0.3324	N	0.19112	0.55	0.22378	N	0.999154	P;P;P	0.39282	0.666;0.666;0.666	B;B;B	0.33339	0.162;0.115;0.115	T	0.60885	-0.7174	10	0.27082	T	0.32	-1.472	6.0008	0.19519	0.2516:0.0:0.7484:0.0	.	3;3;3	E7EPP8;B4DTE5;P05108	.;.;CP11A_HUMAN	G	3	ENSP00000268053:A3G;ENSP00000439750:A3G;ENSP00000388018:A3G	ENSP00000268053:A3G	A	-	2	0	CYP11A1	72446972	0.696000	0.27757	0.388000	0.26195	0.117000	0.20001	1.168000	0.31859	0.363000	0.24346	0.543000	0.68304	GCC		0.627	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1			9	38	0	0	0	0.004482	0	9	38					C	74659919	G	C	74659919	3	2	219	1	0	0	0	0	1	0	0	0	4144	1203	42	4	1593	4	CYP11A1	15	74659919	Missense_Mutation	SNP	G	TCGA-EL-A3GY-01A-21D-A202-08	30843613	74659919	27871473	23	4612											
TM2D3	80213	broad.mit.edu	37	chr15	102182710	102182710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acaaagagccatctgctggtCcaacatagccaactccaatg	7	13	1	1			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr15:102182710C>T	ENST00000333202.3	-	6	721	c.716G>A	c.(715-717)gGa>gAa	p.G239E	TM2D3_ENST00000347970.3_Missense_Mutation_p.G213E|TM2D3_ENST00000561373.1_Missense_Mutation_p.G174E|TM2D3_ENST00000559107.1_Intron|TM2D3_ENST00000428002.2_Intron	NM_078474.2	NP_510883.2	Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3	239						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATCTGCTGGTCCAACATAGCC	0.537																																						ENST00000561373.1																			0				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10						c.(520-522)gGa>gAa		TM2 domain containing 3							124	125	125					15																	102182710		2203	4300	6503	SO:0001583	missense	80213					integral to membrane		g.chr15:102182710C>T	AK094955	CCDS10392.1, CCDS10393.1	15q26.3	2014-02-12			ENSG00000184277	ENSG00000184277			24128	protein-coding gene	gene with protein product		610014				11278849	Standard	XM_005254980		Approved	BLP2, FLJ22604	uc002bxi.3	Q9BRN9	OTTHUMG00000149872	ENST00000333202.3:c.716G>A	15.37:g.102182710C>T	ENSP00000330433:p.Gly239Glu					TM2D3_ENST00000347970.3_Missense_Mutation_p.G213E|TM2D3_ENST00000333202.3_Missense_Mutation_p.G239E|TM2D3_ENST00000559107.1_Intron|TM2D3_ENST00000428002.2_Intron	p.G174E			Q9BRN9	TM2D3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		4	1077	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		239					B2RDK9|Q9H046|Q9H651	Missense_Mutation	SNP	ENST00000333202.3	37	c.521G>A	CCDS10393.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705135	0.89018	.	.	ENSG00000184277	ENST00000347970;ENST00000333202	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.78489	0.4291	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79108	0.988;0.992	T	0.80238	-0.1465	9	0.72032	D	0.01	-19.4518	16.8956	0.86099	0.0:1.0:0.0:0.0	.	213;239	Q9BRN9-2;Q9BRN9	.;TM2D3_HUMAN	E	213;239	.	ENSP00000330433:G239E	G	-	2	0	TM2D3	100000233	1.000000	0.71417	0.992000	0.48379	0.860000	0.49131	7.546000	0.82137	2.660000	0.90430	0.643000	0.83706	GGA		0.537	TM2D3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313623.1	NM_078474		8	178	0	0	0	0.006214	0	8	178					T	102182710	C	T	102182710	3	4	219	1	0	0	0	0	1	0	0	0	15962	855	30	2	31	2	TM2D3	15	102182710	Missense_Mutation	SNP	C	TCGA-EL-A3GY-01A-21D-A202-08	27522791	102182710	348682	24	4613											
STX4	6810	broad.mit.edu	37	chr16	31050875	31050875	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagcagggggagatgatcaAtcggattgagaagaacatcc	14	6	1	5	rs562489469		TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr16:31050875A>G	ENST00000313843.3	+	9	1031	c.716A>G	c.(715-717)aAt>aGt	p.N239S	STX4_ENST00000493902.1_3'UTR|STX4_ENST00000394998.1_Missense_Mutation_p.N237S	NM_004604.3	NP_004595.2	Q12846	STX4_HUMAN	syntaxin 4	239	Interaction with CENPF. {ECO:0000250}.|t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|neurotransmitter transport (GO:0006836)|platelet activation (GO:0030168)|post-Golgi vesicle-mediated transport (GO:0006892)|SNARE complex assembly (GO:0035493)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|membrane (GO:0016020)|myelin sheath adaxonal region (GO:0035749)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)				NS(2)|breast(1)|large_intestine(3)|lung(3)	9						GAGATGATCAATCGGATTGAG	0.567													A|||	1	0.000199681	8e-04	0	5008	,	,		20260	0		0	False		,,,				2504	0					ENST00000394998.1																			0				NS(2)|breast(1)|large_intestine(3)|lung(3)	9						c.(709-711)aAt>aGt		syntaxin 4							115	105	108					16																	31050875		2197	4300	6497	SO:0001583	missense	6810				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity	g.chr16:31050875A>G	AF026007	CCDS10700.1, CCDS61916.1	16p11.2	2008-02-05	2006-04-25	2006-04-25	ENSG00000103496	ENSG00000103496			11439	protein-coding gene	gene with protein product		186591	"syntaxin 4A (placental)"	STX4A		8206394, 16339081	Standard	NM_001272095		Approved	p35-2	uc002eak.4	Q12846	OTTHUMG00000132404	ENST00000313843.3:c.716A>G	16.37:g.31050875A>G	ENSP00000317714:p.Asn239Ser					STX4_ENST00000493902.1_3'UTR|STX4_ENST00000313843.3_Missense_Mutation_p.N239S	p.N237S	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN			10	1053	+			239			Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology.		A8MXY0|Q15525|Q6FHE8	Missense_Mutation	SNP	ENST00000313843.3	37	c.710A>G	CCDS10700.1	.	.	.	.	.	.	.	.	.	.	A	19.56	3.851002	0.71719	.	.	ENSG00000103496	ENST00000394998;ENST00000313843	T;T	0.23348	1.91;1.91	6.08	6.08	0.98989	t-SNARE (1);Syntaxin/epimorphin, conserved site (1);Target SNARE coiled-coil domain (3);	0.107189	0.64402	D	0.000004	T	0.32882	0.0844	M	0.69248	2.105	0.42692	D	0.993584	B;P	0.42456	0.334;0.78	B;B	0.40602	0.197;0.334	T	0.18178	-1.0345	10	0.87932	D	0	.	15.6264	0.76863	1.0:0.0:0.0:0.0	.	239;237	Q12846;A8MXY0	STX4_HUMAN;.	S	237;239	ENSP00000378447:N237S;ENSP00000317714:N239S	ENSP00000317714:N239S	N	+	2	0	STX4	30958376	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	8.526000	0.90588	2.333000	0.79357	0.533000	0.62120	AAT		0.567	STX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255538.3	NM_004604		7	145	0	0	0	0.00308	0	7	145					G	31050875	A	G	31050875	3	3	219	1	0	0	0	0	1	0	0	0	15346	101	4	3	750	3	STX4	16	31050875	Missense_Mutation	SNP	A	TCGA-EL-A3GY-01A-21D-A202-08		31050875	59303878	25	4614											
MYO18A	399687	broad.mit.edu	37	chr17	27425124	27425124	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acccaggccctgccctcaccTgcagttccttcatctccttc	5	20	3	0			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr17:27425124T>G	ENST00000527372.1	-	25	4169	c.3989A>C	c.(3988-3990)cAg>cCg	p.Q1330P	MYO18A_ENST00000531253.1_Splice_Site_p.Q1330P|MYO18A_ENST00000533112.1_Splice_Site_p.Q1330P|MYO18A_ENST00000354329.4_Splice_Site_p.Q1330P	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1330					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)			TGCCCTCACCTGCAGTTCCTT	0.612																																					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.e25+1		myosin XVIIIA							113	125	121					17																	27425124		2159	4251	6410	SO:0001630	splice_region_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.chr17:27425124T>G	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.3990+1A>C	17.37:g.27425124T>G						MYO18A_ENST00000354329.4_Splice_Site_p.Q1330_splice|MYO18A_ENST00000533112.1_Splice_Site_p.Q1330_splice|MYO18A_ENST00000531253.1_Splice_Site_p.Q1330_splice	p.Q1330_splice	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)		25	4169	-			1330					Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Splice_Site	SNP	ENST00000527372.1	37	c.3990_splice	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.021704	0.75275	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	T;D;T;T	0.88818	-1.16;-2.43;-1.16;-1.16	5.36	5.36	0.76844	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.92496	0.7617	M	0.81802	2.56	0.51012	D	0.999902	P;P;P;P;D	0.53312	0.813;0.937;0.937;0.937;0.959	P;P;P;P;P	0.53006	0.715;0.626;0.504;0.504;0.681	D	0.93169	0.6564	10	0.56958	D	0.05	.	15.6464	0.77055	0.0:0.0:0.0:1.0	.	999;942;1330;1330;1330	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	P	1330;1330;1330;1330;1330;226;226;942	ENSP00000346291:Q1330P;ENSP00000435932:Q1330P;ENSP00000434228:Q1330P;ENSP00000437073:Q1330P	ENSP00000346291:Q1330P	Q	-	2	0	MYO18A	24449250	1.000000	0.71417	1.000000	0.80357	0.380000	0.30137	7.511000	0.81718	2.157000	0.67596	0.533000	0.62120	CAG		0.612	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471	Missense_Mutation	10	249	0	0	0	0.006214	0	10	249					G	27425124	T	G	27425124	5	3	219	1	0	0	0	0	0	0	1	0	10065	1594	55	5	2247	5	MYO18A	17	27425124	Splice_Site	SNP	T	TCGA-EL-A3GY-01A-21D-A202-08		27425124	53770086	26	4615											
GPATCH8	23131	broad.mit.edu	37	chr17	42478100	42478100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgctccttggcttgctgCcgccttgatgcagcttttag	10	12	1	1			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr17:42478100C>T	ENST00000591680.1	-	8	1375	c.1345G>A	c.(1345-1347)Gca>Aca	p.A449T	GPATCH8_ENST00000434000.1_Missense_Mutation_p.A371T	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	449							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TGGCTTGCTGCCGCCTTGATG	0.502											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000434000.1																			0				breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(1111-1113)Gca>Aca		G patch domain containing 8							157	157	157					17																	42478100		2203	4300	6503	SO:0001583	missense	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42478100C>T	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"G patch domain containing"	29066	protein-coding gene	gene with protein product		614396	"KIAA0553"	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.1345G>A	17.37:g.42478100C>T	ENSP00000467556:p.Ala449Thr		OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	909	GPATCH8_ENST00000591680.1_Missense_Mutation_p.A449T	p.A371T			Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	9	1393	-		Prostate(33;0.0181)	449					B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	c.1111G>A	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	C	8.499	0.863795	0.17250	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.11385	2.78	5.02	-0.309	0.12769	.	0.702694	0.13772	N	0.363850	T	0.07188	0.0182	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32134	-0.9918	10	0.40728	T	0.16	0.001	8.3644	0.32378	0.0:0.486:0.0:0.514	.	449	Q9UKJ3	GPTC8_HUMAN	T	449;371	ENSP00000395016:A371T	ENSP00000335486:A449T	A	-	1	0	GPATCH8	39833626	0.016000	0.18221	0.188000	0.23233	0.813000	0.45954	0.398000	0.20899	-0.147000	0.11254	0.563000	0.77884	GCA		0.502	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		5	296	0	0	0	0.000602	0	5	296					T	42478100	C	T	42478100	3	4	219	1	0	0	0	0	1	0	0	0	6594	739	26	2	3167	2	GPATCH8	17	42478100	Missense_Mutation	SNP	C	TCGA-EL-A3GY-01A-21D-A202-08	15052976	42478100	38717110	27	4616											
ZNRF4	148066	broad.mit.edu	37	chr19	5455622	5455622	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcgcgtcctggccacagGccccctgggagaccccggag	13	19	0	1	rs370058448		TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr19:5455622G>A	ENST00000222033.4	+	1	197	c.120G>A	c.(118-120)agG>agA	p.R40R		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	40						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CTGGCCACAGGCCCCCTGGGA	0.657																																						ENST00000222033.4																			0				NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(118-120)agG>agA		zinc and ring finger 4		G		0,4088		0,0,2044	36	42	40		120	-1.3	0.1	19		40	2,8354		0,2,4176	no	coding-synonymous	ZNRF4	NM_181710.3		0,2,6220	AA,AG,GG		0.0239,0.0,0.0161		40/430	5455622	2,12442	2044	4178	6222	SO:0001819	synonymous_variant	148066					integral to membrane	zinc ion binding	g.chr19:5455622G>A	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"RING-type (C3HC4) zinc fingers"	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.120G>A	19.37:g.5455622G>A							p.R40R	NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	197	+			40					A8K886|O75866	Silent	SNP	ENST00000222033.4	37	c.120G>A	CCDS42475.1																																																																																				0.657	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		4	79	0	0	0	0.000248	0	4	79					A	5455622	G	A	5455622	2	1	219	1	0	0	0	0	0	0	0	1	18211	1194	42	2		2	ZNRF4	19	5455622	Silent	SNP	G	TCGA-EL-A3GY-01A-21D-A202-08		5455622	53673361	28	4617											
TRIP10	9322	broad.mit.edu	37	chr19	6741105	6741105	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agttcgtgaaagaacgcaccGaagtggaacaggcttacgcc	12	10	0	2			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr19:6741105G>A	ENST00000313244.9	+	2	144	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	TRIP10_ENST00000313285.8_Missense_Mutation_p.E37K|TRIP10_ENST00000600428.1_5'UTR|TRIP10_ENST00000596758.1_Missense_Mutation_p.E37K|TRIP10_ENST00000596543.1_3'UTR			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	37	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.|Required for podosome formation and interaction with AKAP9 and microtubules.|Required for translocation to the plasma membrane in response to insulin. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						AGAACGCACCGAAGTGGAACA	0.627																																						ENST00000313244.9																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(109-111)Gaa>Aaa		thyroid hormone receptor interactor 10							75	66	69					19																	6741105		2203	4300	6503	SO:0001583	missense	9322				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding	g.chr19:6741105G>A	AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"Cdc42-interacting protein"	604504	"salt tolerator"	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.109G>A	19.37:g.6741105G>A	ENSP00000320117:p.Glu37Lys					TRIP10_ENST00000596758.1_Missense_Mutation_p.E37K|TRIP10_ENST00000596543.1_3'UTR|TRIP10_ENST00000313285.8_Missense_Mutation_p.E37K|TRIP10_ENST00000600428.1_5'UTR	p.E37K			Q15642	CIP4_HUMAN			2	144	+			37			FCH.|Induction of membrane tubulation.|Required for podosome formation and interaction with AKAP9 and microtubules.|Required for translocation to the plasma membrane in response to insulin (By similarity).		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Missense_Mutation	SNP	ENST00000313244.9	37	c.109G>A		.	.	.	.	.	.	.	.	.	.	G	24.5	4.539337	0.85917	.	.	ENSG00000125733	ENST00000313285;ENST00000313244;ENST00000420690	T;T	0.46063	0.88;2.28	4.11	4.11	0.48088	Fps/Fes/Fer/CIP4 homology (3);	0.063503	0.64402	D	0.000008	T	0.62865	0.2463	M	0.76574	2.34	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.998;0.998	D;D;P	0.72625	0.978;0.971;0.744	T	0.68138	-0.5488	10	0.66056	D	0.02	-24.7607	13.836	0.63410	0.0:0.0:1.0:0.0	.	37;37;37	G5E9U1;Q15642;Q15642-2	.;CIP4_HUMAN;.	K	37	ENSP00000320493:E37K;ENSP00000320117:E37K	ENSP00000320117:E37K	E	+	1	0	TRIP10	6692105	1.000000	0.71417	0.921000	0.36526	0.929000	0.56500	9.078000	0.94023	1.834000	0.53371	0.462000	0.41574	GAA		0.627	TRIP10-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000317129.2			4	100	0	0	0	0.000248	0	4	100					A	6741105	G	A	6741105	3	1	219	1	0	0	0	0	1	0	0	0	16551	1059	37	1	115	1	TRIP10	19	6741105	Missense_Mutation	SNP	G	TCGA-EL-A3GY-01A-21D-A202-08	1285483	6741105	52387878	29	4618											
LEFTY1	10637	broad.mit.edu	37	chr1	226075322	226075322	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gaaggccttccagccgctctCgtggacggacaccagcctga	12	15	1	1			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr1:226075322C>A	ENST00000272134.5	-	3	593	c.514G>T	c.(514-516)Gag>Tag	p.E172*	LEFTY1_ENST00000492457.1_5'Flank|RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.R280L	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1	172					cell growth (GO:0016049)|determination of left/right symmetry (GO:0007368)|heart morphogenesis (GO:0003007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					CAGCCGCTCTCGTGGACGGAC	0.711																																						ENST00000272134.5																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(514-516)Gag>Tag		left-right determination factor 1							15	19	18					1																	226075322		2139	4174	6313	SO:0001587	stop_gained	10637				cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	g.chr1:226075322C>A	AF081507	CCDS1548.1	1q42.1	2008-02-05	2004-11-17	2004-11-17	ENSG00000243709	ENSG00000243709			6552	protein-coding gene	gene with protein product		603037	"left-right determination, factor B"	LEFTB		10053005, 10886363	Standard	NM_020997		Approved	LEFTYB	uc001hpo.3	O75610	OTTHUMG00000037443	ENST00000272134.5:c.514G>T	1.37:g.226075322C>A	ENSP00000272134:p.Glu172*					RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.R280L	p.E172*	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN			3	593	-	Breast(184;0.197)		172					B2R7U0|Q53H67|Q5TE94	Nonsense_Mutation	SNP	ENST00000272134.5	37	c.514G>T	CCDS1548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.1|27.1	4.805047|4.805047	0.90623|0.90623	.|.	.|.	ENSG00000243709|ENSG00000255835	ENST00000272134|ENST00000432920	.|D	.|0.81821	.|-1.54	3.9|3.9	1.74|1.74	0.24563|0.24563	.|.	0.050310|.	0.85682|.	D|.	0.000000|.	.|T	.|0.72145	.|0.3424	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|B	.|0.25390	.|0.125	.|B	.|0.21546	.|0.035	.|T	.|0.74057	.|-0.3787	.|7	0.16420|0.87932	T|D	0.52|0	.|.	9.3242|9.3242	0.37982|0.37982	0.1628:0.6797:0.1575:0.0|0.1628:0.6797:0.1575:0.0	.|.	.|280	.|E7EUD8	.|.	X|L	172|280	.|ENSP00000414068:R280L	ENSP00000272134:E172X|ENSP00000414068:R280L	E|R	-|-	1|2	0|0	LEFTY1|RP4-559A3.7	224141945|224141945	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.762000|0.762000	0.43233|0.43233	3.131000|3.131000	0.50515|0.50515	0.733000|0.733000	0.32492|0.32492	0.313000|0.313000	0.20887|0.20887	GAG|CGA		0.711	LEFTY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091155.1	NM_020997		3	63	1	0	0.115264	0.115264	0.137219	3	63					A	226075322	C	A	226075322	4	1	220	1	0	0	0	0	0	1	0	0	8715	893	31	4	594	4	LEFTY1	1	226075322	Nonsense_Mutation	SNP	C	TCGA-EL-A3GZ-01A-11D-A20C-08		226075322	23175299	1	4619											
SLC8A1	6546	broad.mit.edu	37	chr2	40656897	40656897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgaacatattgaatgcaGcacttcccacgatggtgcta	9	9	0	3			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr2:40656897G>A	ENST00000403092.1	-	2	557	c.524C>T	c.(523-525)gCt>gTt	p.A175V	SLC8A1_ENST00000405901.3_Missense_Mutation_p.A175V|SLC8A1_ENST00000408028.2_Missense_Mutation_p.A175V|SLC8A1_ENST00000542756.1_Missense_Mutation_p.A175V|SLC8A1_ENST00000402441.1_Missense_Mutation_p.A175V|SLC8A1_ENST00000542024.1_Missense_Mutation_p.A175V|SLC8A1_ENST00000405269.1_Missense_Mutation_p.A175V|SLC8A1_ENST00000406785.2_Missense_Mutation_p.A175V|SLC8A1_ENST00000332839.4_Missense_Mutation_p.A175V|SLC8A1_ENST00000406391.2_Missense_Mutation_p.A175V			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	175					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ATTGAATGCAGCACTTCCCAC	0.463																																						ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(523-525)gCt>gTt		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						101	90	94					2																	40656897		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40656897G>A		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.524C>T	2.37:g.40656897G>A	ENSP00000384763:p.Ala175Val					SLC8A1_ENST00000542024.1_Missense_Mutation_p.A175V|SLC8A1_ENST00000408028.2_Missense_Mutation_p.A175V|SLC8A1_ENST00000405901.3_Missense_Mutation_p.A175V|SLC8A1_ENST00000402441.1_Missense_Mutation_p.A175V|SLC8A1_ENST00000332839.4_Missense_Mutation_p.A175V|SLC8A1_ENST00000542756.1_Missense_Mutation_p.A175V|SLC8A1_ENST00000406391.2_Missense_Mutation_p.A175V|SLC8A1_ENST00000405269.1_Missense_Mutation_p.A175V|SLC8A1_ENST00000403092.1_Missense_Mutation_p.A175V	p.A175V			P32418	NAC1_HUMAN			2	713	-			175					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.524C>T	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200976	0.79015	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08	5.59	5.59	0.84812	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.86397	0.5923	H	0.96633	3.855	0.80722	D	1	D;D;D;P;P	0.89917	1.0;0.998;1.0;0.924;0.938	D;D;D;P;P	0.97110	1.0;0.995;1.0;0.9;0.866	D	0.90523	0.4490	10	0.72032	D	0.01	.	17.1057	0.86662	0.0:0.0:1.0:0.0	.	175;175;175;175;175	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	V	175	ENSP00000383886:A175V;ENSP00000440727:A175V;ENSP00000384763:A175V;ENSP00000385678:A175V;ENSP00000385188:A175V;ENSP00000385535:A175V;ENSP00000332931:A175V;ENSP00000384908:A175V;ENSP00000385811:A175V;ENSP00000443515:A175V	ENSP00000332931:A175V	A	-	2	0	SLC8A1	40510401	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	9.669000	0.98622	2.648000	0.89879	0.563000	0.77884	GCT		0.463	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		3	77	0	0	0	0.184627	0	3	77					A	40656897	G	A	40656897	3	1	220	1	0	0	0	0	1	0	0	0	14706	971	34	2	2545	2	SLC8A1	2	40656897	Missense_Mutation	SNP	G	TCGA-EL-A3GZ-01A-11D-A20C-08		40656897	202542476	2	4620											
MSH2	4436	broad.mit.edu	37	chr2	47656952	47656952	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	acaagaagatttacttcgtcGattcccagatcttaaccgac	6	11	1	3	rs376934727		TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr2:47656952G>T	ENST00000233146.2	+	7	1371	c.1148G>T	c.(1147-1149)cGa>cTa	p.R383L	MSH2_ENST00000406134.1_Missense_Mutation_p.R383L|MSH2_ENST00000543555.1_Missense_Mutation_p.R317L	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	383					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTACTTCGTCGATTCCCAGAT	0.343			"D, Mis, N, F, S"		"colorectal, endometrial, ovarian"	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000406134.1			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	"D, Mis, N, F, S"	mutS homolog 2 (E. coli)			E		"colorectal, endometrial, ovarian"	"colorectal, endometrial, ovarian"		4	Whole gene deletion(2)|Unknown(2)	p.0?(2)|p.?(2)	haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)	NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112						c.(1147-1149)cGa>cTa	Mismatch excision repair (MMR)	mutS homolog 2							89	86	87					2																	47656952		2203	4300	6503	SO:0001583	missense	4436	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	g.chr2:47656952G>T	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)", "mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.1148G>T	2.37:g.47656952G>T	ENSP00000233146:p.Arg383Leu					MSH2_ENST00000233146.2_Missense_Mutation_p.R383L|MSH2_ENST00000543555.1_Missense_Mutation_p.R317L	p.R383L			P43246	MSH2_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		7	1210	+		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	383					B4E2Z2|O75488	Missense_Mutation	SNP	ENST00000233146.2	37	c.1148G>T	CCDS1834.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	16.39|16.39	3.109520|3.109520	0.56398|0.56398	.|.	.|.	ENSG00000095002|ENSG00000095002	ENST00000448533|ENST00000233146;ENST00000543555;ENST00000406134;ENST00000419559;ENST00000432737;ENST00000453755;ENST00000422810;ENST00000413880	.|D;D;D	.|0.90900	.|-2.75;-2.75;-2.75	5.69|5.69	5.69|5.69	0.88448|0.88448	.|DNA mismatch repair protein MutS, core (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.93311|0.93311	0.7868|0.7868	M|M	0.78285|0.78285	2.405|2.405	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.43607	.|0.629;0.812;0.526	.|B;B;P	.|0.48454	.|0.349;0.188;0.578	D|D	0.92618|0.92618	0.6105|0.6105	6|10	0.72032|0.44086	D|T	0.01|0.13	-0.1317|-0.1317	19.802|19.802	0.96511|0.96511	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|317;383;383	.|B4E2Z2;E9PHA6;P43246	.|.;.;MSH2_HUMAN	Y|L	383|383;317;383;383;383;383;33;169	.|ENSP00000233146:R383L;ENSP00000442697:R317L;ENSP00000384199:R383L	ENSP00000415023:D383Y|ENSP00000233146:R383L	D|R	+|+	1|2	0|0	MSH2|MSH2	47510456|47510456	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.923000|8.923000	0.92808|0.92808	2.687000|2.687000	0.91594|0.91594	0.651000|0.651000	0.88453|0.88453	GAT|CGA		0.343	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3			37	74	1	0	9.58827e-17	0.870114	1.19853e-16	37	74					T	47656952	G	T	47656952	3	4	220	1	0	0	0	0	1	0	0	0	9870	1058	37	4	1174	4	MSH2	2	47656952	Missense_Mutation	SNP	G	TCGA-EL-A3GZ-01A-11D-A20C-08	7000055	47656952	195542421	3	4621											
POTEF	728378	broad.mit.edu	37	chr2	130877782	130877782	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaggggaagcagtggcAgcaccacttgcccatcttgt	13	12	1	0	rs552690286	byFrequency	TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr2:130877782A>G	ENST00000409914.2	-	3	706	c.307T>C	c.(307-309)Tgc>Cgc	p.C103R	POTEF_ENST00000360967.5_Missense_Mutation_p.C103R|POTEF_ENST00000361163.4_Missense_Mutation_p.C103R|POTEF_ENST00000357462.5_Missense_Mutation_p.C103R	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	103					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						AAGCAGTGGCAGCACCACTTG	0.617													.|||	3	0.000599042	0.0023	0	5008	,	,		21510	0		0	False		,,,				2504	0					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.(307-309)Tgc>Cgc		POTE ankyrin domain family, member F							80	104	96					2																	130877782		2203	4296	6499	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130877782A>G	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.307T>C	2.37:g.130877782A>G	ENSP00000386786:p.Cys103Arg					POTEF_ENST00000361163.4_Missense_Mutation_p.C103R|POTEF_ENST00000409914.2_Missense_Mutation_p.C103R|POTEF_ENST00000360967.5_Missense_Mutation_p.C103R	p.C103R			A5A3E0	POTEF_HUMAN			1	400	-			103					A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.307T>C	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	4.162	0.028472	0.08054	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.77358	-1.09;-1.09;1.72;1.75	0.562	0.562	0.17290	.	.	.	.	.	T	0.65616	0.2708	L	0.36672	1.1	0.09310	N	0.999999	B	0.15141	0.012	B	0.01281	0.0	T	0.58335	-0.7654	8	0.87932	D	0	.	.	.	.	.	103	A5A3E0	POTEF_HUMAN	R	103	ENSP00000350052:C103R;ENSP00000386786:C103R;ENSP00000354232:C103R;ENSP00000355012:C103R	ENSP00000350052:C103R	C	-	1	0	POTEF	130594252	0.003000	0.15002	0.007000	0.13788	0.076000	0.17211	0.243000	0.18106	0.493000	0.27837	0.063000	0.15292	TGC		0.617	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		5	323	0	0	0	0.184627	0	5	323					G	130877782	A	G	130877782	3	3	220	1	0	0	0	0	1	0	0	0	12265	188	7	3	2980	3	POTEF	2	130877782	Missense_Mutation	SNP	A	TCGA-EL-A3GZ-01A-11D-A20C-08	83220830	130877782	112321591	4	4622											
CRELD1	78987	broad.mit.edu	37	chr3	9984805	9984805	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gcatgggggcagggccaggtCgctgtaagaagtgtagccct	17	9	0	1			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr3:9984805C>A	ENST00000383811.3	+	8	1461	c.862C>A	c.(862-864)Cgc>Agc	p.R288S	CRELD1_ENST00000397170.3_Missense_Mutation_p.R288S|CRELD1_ENST00000489674.1_3'UTR|CRELD1_ENST00000326434.5_Missense_Mutation_p.R288S|CRELD1_ENST00000452070.1_Missense_Mutation_p.R288S	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	288					cardiac septum development (GO:0003279)|endocardial cushion development (GO:0003197)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						AGGGCCAGGTCGCTGTAAGAA	0.617																																						ENST00000383811.3																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						c.(862-864)Cgc>Agc		cysteine-rich with EGF-like domains 1							64	65	65					3																	9984805		2203	4300	6503	SO:0001583	missense	78987				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding	g.chr3:9984805C>A	AF452623	CCDS2593.1, CCDS33693.1	3p25.3	2005-12-08	2004-02-13		ENSG00000163703	ENSG00000163703			14630	protein-coding gene	gene with protein product		607170	"atrioventricular septal defect 2"	AVSD2		10922384, 12137942	Standard	NM_015513		Approved		uc003buf.3	Q96HD1	OTTHUMG00000128653	ENST00000383811.3:c.862C>A	3.37:g.9984805C>A	ENSP00000373322:p.Arg288Ser					CRELD1_ENST00000397170.3_Missense_Mutation_p.R288S|CRELD1_ENST00000452070.1_Missense_Mutation_p.R288S|CRELD1_ENST00000326434.5_Missense_Mutation_p.R288S|CRELD1_ENST00000489674.1_3'UTR	p.R288S	NM_015513.4	NP_056328.2	Q96HD1	CREL1_HUMAN			8	1461	+			288					A8MX90|B2RAA9|Q6I9X5|Q8NFT4|Q9Y409	Missense_Mutation	SNP	ENST00000383811.3	37	c.862C>A	CCDS2593.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.02|19.02	3.745929|3.745929	0.69418|0.69418	.|.	.|.	ENSG00000163703|ENSG00000163703	ENST00000397170;ENST00000383811;ENST00000452070;ENST00000326434|ENST00000435417	D;D;D;D|.	0.87103|.	-2.21;-2.21;-2.21;-2.21|.	4.67|4.67	4.67|4.67	0.58626|0.58626	Growth factor, receptor (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.40473|.	0.1118|.	N|N	0.11651|0.11651	0.15|0.15	0.58432|0.58432	D|D	0.999994|0.999994	D;D|.	0.89917|.	1.0;0.998|.	D;D|.	0.85130|.	0.997;0.994|.	T|.	0.30679|.	-0.9970|.	9|.	.|.	.|.	.|.	.|.	15.0703|15.0703	0.72030|0.72030	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	288;288|.	Q96HD1;Q96HD1-2|.	CREL1_HUMAN;.|.	S|X	288|50	ENSP00000380355:R288S;ENSP00000373322:R288S;ENSP00000393643:R288S;ENSP00000321856:R288S|.	.|.	R|S	+|+	1|2	0|0	CRELD1|CRELD1	9959805|9959805	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	5.691000|5.691000	0.68249|0.68249	2.134000|2.134000	0.65973|0.65973	0.561000|0.561000	0.74099|0.74099	CGC|TCG		0.617	CRELD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250533.1	NM_015513		4	155	1	0	0.217242	0.217242	0.246866	4	155					A	9984805	C	A	9984805	3	1	220	1	0	0	0	0	1	0	0	0	3866	884	31	4	892	4	CRELD1	3	9984805	Missense_Mutation	SNP	C	TCGA-EL-A3GZ-01A-11D-A20C-08		9984805	188037625	5	4623											
NRG2	9542	broad.mit.edu	37	chr5	139260543	139260543	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccttcaccttgttgaactGtagtcgtgagttctttctgg	9	10	3	2			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr5:139260543G>A	ENST00000361474.1	-	3	1113	c.889C>T	c.(889-891)Cag>Tag	p.Q297*	NRG2_ENST00000340391.3_Nonsense_Mutation_p.Q94*|NRG2_ENST00000358522.3_Nonsense_Mutation_p.Q297*|NRG2_ENST00000289409.4_Nonsense_Mutation_p.Q297*|NRG2_ENST00000541337.1_Nonsense_Mutation_p.Q297*|NRG2_ENST00000518130.1_5'UTR|NRG2_ENST00000545385.1_Nonsense_Mutation_p.Q297*|NRG2_ENST00000394770.1_Nonsense_Mutation_p.Q297*|NRG2_ENST00000289422.7_Nonsense_Mutation_p.Q297*	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	297	Ig-like C2-type.				embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTTGAACTGTAGTCGTGAG	0.612																																						ENST00000541337.1																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(889-891)Cag>Tag		neuregulin 2							111	106	108					5																	139260543		2203	4300	6503	SO:0001587	stop_gained	9542				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity	g.chr5:139260543G>A		CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"Immunoglobulin superfamily / I-set domain containing"	7998	protein-coding gene	gene with protein product	"neural- and thymus-derived activator for ErbB kinases", "divergent of neuregulin-1"	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.889C>T	5.37:g.139260543G>A	ENSP00000354910:p.Gln297*					NRG2_ENST00000545385.1_Nonsense_Mutation_p.Q297*|NRG2_ENST00000358522.3_Nonsense_Mutation_p.Q297*|NRG2_ENST00000361474.1_Nonsense_Mutation_p.Q297*|NRG2_ENST00000340391.3_Nonsense_Mutation_p.Q94*|NRG2_ENST00000289422.7_Nonsense_Mutation_p.Q297*|NRG2_ENST00000518130.1_5'UTR|NRG2_ENST00000289409.4_Nonsense_Mutation_p.Q297*|NRG2_ENST00000394770.1_Nonsense_Mutation_p.Q297*	p.Q297*	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	1118	-			327			Ig-like C2-type.			Nonsense_Mutation	SNP	ENST00000361474.1	37	c.889C>T	CCDS4217.1	.	.	.	.	.	.	.	.	.	.	G	39	7.539569	0.98345	.	.	ENSG00000158458	ENST00000541337;ENST00000289422;ENST00000361474;ENST00000446269;ENST00000545385;ENST00000394770;ENST00000340391;ENST00000289409;ENST00000358522;ENST00000544729;ENST00000378238	.	.	.	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-12.1047	17.0103	0.86404	0.0:0.0:1.0:0.0	.	.	.	.	X	297;297;297;297;297;297;94;297;297;205;297	.	ENSP00000289409:Q297X	Q	-	1	0	NRG2	139240727	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	7.674000	0.83992	2.455000	0.83008	0.561000	0.74099	CAG		0.612	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982		5	104	0	0	0	0.27861	0	5	104					A	139260543	G	A	139260543	4	1	220	1	0	0	0	0	0	1	0	0	10648	1386	48	2	1786	2	NRG2	5	139260543	Nonsense_Mutation	SNP	G	TCGA-EL-A3GZ-01A-11D-A20C-08		139260543	41654717	6	4624											
HIST1H2BC	8347	broad.mit.edu	37	chr6	26124113	26124113	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccttcttcggggcgggagcaGacttggctggctcaggcatc	15	12	2	1			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr6:26124113G>C	ENST00000314332.5	-	1	25	c.20C>G	c.(19-21)tCt>tGt	p.S7C	HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.S7C|HIST1H2AC_ENST00000377791.2_5'Flank|HIST1H2AC_ENST00000602637.1_5'Flank			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	7					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						GGCGGGAGCAGACTTGGCTGG	0.507																																						ENST00000314332.5																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						c.(19-21)tCt>tGt		histone cluster 1, H2bc							88	87	87					6																	26124113		2203	4300	6503	SO:0001583	missense	8347				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26124113G>C	Z80783	CCDS4584.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000180596	ENSG00000180596		"Histones / Replication-dependent"	4757	protein-coding gene	gene with protein product		602847	"H2B histone family, member L", "histone 1, H2bc"	H2BFL		9119399, 12408966	Standard	NM_003526		Approved	H2B/l, H2B.1	uc003ngl.3	P62807	OTTHUMG00000014425	ENST00000314332.5:c.20C>G	6.37:g.26124113G>C	ENSP00000321744:p.Ser7Cys					HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.S7C	p.S7C			P62807	H2B1C_HUMAN			1	25	-			7					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000314332.5	37	c.20C>G	CCDS4584.1	.	.	.	.	.	.	.	.	.	.	.	18.92	3.726581	0.69074	.	.	ENSG00000180596	ENST00000314332;ENST00000396984	T;T	0.18960	2.18;2.18	5.76	5.76	0.90799	Histone-fold (2);	.	.	.	.	T	0.13114	0.0318	.	.	.	0.40397	D	0.979609	B	0.25904	0.137	B	0.12156	0.007	T	0.01951	-1.1241	8	0.87932	D	0	.	19.3155	0.94211	0.0:0.0:1.0:0.0	.	7	P62807	H2B1C_HUMAN	C	7	ENSP00000321744:S7C;ENSP00000380180:S7C	ENSP00000321744:S7C	S	-	2	0	HIST1H2BC	26232092	1.000000	0.71417	0.961000	0.40146	0.857000	0.48899	6.186000	0.72026	2.879000	0.98667	0.650000	0.86243	TCT		0.507	HIST1H2BC-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468022.1	NM_003526		54	77	0	0	0	0.870114	0	54	77					C	26124113	G	C	26124113	3	2	220	1	0	0	0	0	1	0	0	0	7142	942	33	4	364	4	HIST1H2BC	6	26124113	Missense_Mutation	SNP	G	TCGA-EL-A3GZ-01A-11D-A20C-08		26124113	144990954	7	4625											
PODXL	5420	broad.mit.edu	37	chr7	131195717	131195717	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacaggatgcgtcgaagtGggttgtcgggggctaagtgg	19	7	0	0			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr7:131195717G>A	ENST00000378555.3	-	2	823	c.576C>T	c.(574-576)ccC>ccT	p.P192P	PODXL_ENST00000465001.1_5'Flank|PODXL_ENST00000541194.1_Silent_p.P194P|PODXL_ENST00000537928.1_Silent_p.P192P|PODXL_ENST00000322985.9_Silent_p.P192P			O00592	PODXL_HUMAN	podocalyxin-like	192	Thr-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					GCGTCGAAGTGGGTTGTCGGG	0.542																																						ENST00000541194.1																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(580-582)ccC>ccT		podocalyxin-like							219	190	200					7																	131195717		2203	4300	6503	SO:0001819	synonymous_variant	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131195717G>A		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.576C>T	7.37:g.131195717G>A						PODXL_ENST00000322985.9_Silent_p.P192P|PODXL_ENST00000537928.1_Silent_p.P192P|PODXL_ENST00000378555.3_Silent_p.P192P	p.P194P	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN			2	839	-	Melanoma(18;0.162)		192		S -> L (in dbSNP:rs12670788).	Thr-rich.		A6NHX8|Q52LZ7|Q53ER6	Silent	SNP	ENST00000378555.3	37	c.582C>T	CCDS34755.1																																																																																				0.542	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		37	77	0	0	0	0.827153	0	37	77					A	131195717	G	A	131195717	2	1	220	1	0	0	0	0	0	0	0	1	12180	1335	47	2		2	PODXL	7	131195717	Silent	SNP	G	TCGA-EL-A3GZ-01A-11D-A20C-08		131195717	27942946	8	4626											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		37	70	0	0	0	0.834066	0	37	70					T	140453136	A	T	140453136	3	4	220	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3GZ-01A-11D-A20C-08	9257419	140453136	18685527	9	4627											
ACBD5	91452	broad.mit.edu	37	chr10	27529319	27529319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgcacggatctcgtgtccGccatctccagctgccagtgt	11	15	2	0			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr10:27529319G>A	ENST00000375888.1	-	1	168	c.104C>T	c.(103-105)gCg>gTg	p.A35V	ACBD5_ENST00000375905.4_Missense_Mutation_p.A2V|RP11-85G18.6_ENST00000574842.1_lincRNA|ACBD5_ENST00000396271.3_Missense_Mutation_p.A37V|ACBD5_ENST00000375897.3_5'UTR|ACBD5_ENST00000375901.1_5'UTR|ACBD5_ENST00000476758.1_5'UTR			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	35					peroxisome degradation (GO:0030242)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisome (GO:0005777)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TCTCGTGTCCGCCATCTCCAG	0.612																																						ENST00000396271.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(109-111)gCg>gTg		acyl-CoA binding domain containing 5							81	71	75					10																	27529319		2203	4300	6503	SO:0001583	missense	91452				transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding	g.chr10:27529319G>A	AF505653	CCDS7154.1, CCDS44368.1, CCDS73079.1	10p12.1	2010-04-30	2010-04-30		ENSG00000107897	ENSG00000107897			23338	protein-coding gene	gene with protein product			"acyl-Coenzyme A binding domain containing 5"			12056414	Standard	NR_024150		Approved	DKFZp434A2417, KIAA1996	uc010qdp.2	Q5T8D3	OTTHUMG00000017854	ENST00000375888.1:c.104C>T	10.37:g.27529319G>A	ENSP00000365049:p.Ala35Val					ACBD5_ENST00000375888.1_Missense_Mutation_p.A35V|ACBD5_ENST00000375905.4_Missense_Mutation_p.A2V|ACBD5_ENST00000375901.1_5'UTR|ACBD5_ENST00000375897.3_5'UTR|ACBD5_ENST00000476758.1_5'UTR	p.A37V	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN			2	236	-			35					B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	Missense_Mutation	SNP	ENST00000375888.1	37	c.110C>T		.	.	.	.	.	.	.	.	.	.	G	29.7	5.027375	0.93518	.	.	ENSG00000107897	ENST00000375889;ENST00000396271;ENST00000375905;ENST00000375888;ENST00000426079;ENST00000412279	T;T;T;T;T	0.32753	2.29;1.78;2.29;1.98;1.44	4.87	4.87	0.63330	.	0.104266	0.64402	D	0.000003	T	0.40767	0.1130	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.997;0.999	P;P	0.58331	0.837;0.787	T	0.28170	-1.0052	10	0.51188	T	0.08	-4.7614	18.3808	0.90451	0.0:0.0:1.0:0.0	.	37;35	Q5T8D3-3;B7Z2R7	.;.	V	32;37;2;35;44;2	ENSP00000379568:A37V;ENSP00000365070:A2V;ENSP00000365049:A35V;ENSP00000401591:A44V;ENSP00000393398:A2V	ENSP00000365049:A35V	A	-	2	0	ACBD5	27569325	1.000000	0.71417	0.997000	0.53966	0.950000	0.60333	3.955000	0.56715	2.402000	0.81655	0.467000	0.42956	GCG		0.612	ACBD5-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000047314.1	NM_145698		4	120	0	0	0	0.248553	0	4	120					A	27529319	G	A	27529319	3	1	220	1	0	0	0	0	1	0	0	0	125	1087	38	1	1515	1	ACBD5	10	27529319	Missense_Mutation	SNP	G	TCGA-EL-A3GZ-01A-11D-A20C-08		27529319	108005428	10	4628											
HTR3A	3359	broad.mit.edu	37	chr11	113860392	113860392	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggctgcgcgtgggctccgtGctggacaagctgctattcca	14	12	0	0			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr11:113860392G>T	ENST00000504030.2	+	9	1789	c.1344G>T	c.(1342-1344)gtG>gtT	p.V448V	HTR3A_ENST00000299961.5_Silent_p.V433V|HTR3A_ENST00000506841.2_Silent_p.V480V|HTR3A_ENST00000355556.2_Silent_p.V486V|HTR3A_ENST00000535865.1_Silent_p.V192V|HTR3A_ENST00000375498.2_Silent_p.V454V			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	448	HA-stretch.				cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	TGGGCTCCGTGCTGGACAAGC	0.592																																						ENST00000504030.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(1342-1344)gtG>gtT		5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						82	74	77					11																	113860392		2201	4296	6497	SO:0001819	synonymous_variant	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113860392G>T	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5297	protein-coding gene	gene with protein product		182139	"5-hydroxytryptamine (serotonin) receptor 3A"	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.1344G>T	11.37:g.113860392G>T						HTR3A_ENST00000355556.2_Silent_p.V486V|HTR3A_ENST00000535865.1_Silent_p.V192V|HTR3A_ENST00000299961.5_Silent_p.V433V|HTR3A_ENST00000375498.2_Silent_p.V454V|HTR3A_ENST00000506841.2_Silent_p.V480V	p.V448V			P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	9	1789	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	448			HA-stretch.		B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Silent	SNP	ENST00000504030.2	37	c.1344G>T																																																																																					0.592	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		56	120	1	0	9.53978e-28	0.870114	1.25523e-27	56	120					T	113860392	G	T	113860392	2	4	220	1	0	0	0	0	0	0	0	1	7444	1306	46	4		4	HTR3A	11	113860392	Silent	SNP	G	TCGA-EL-A3GZ-01A-11D-A20C-08		113860392	21146124	11	4629											
PPP4C	5531	broad.mit.edu	37	chr16	30095000	30095000	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgcgtgcacgggggcctcTccccctccatccagaccctg	10	19	2	1			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr16:30095000T>C	ENST00000279387.7	+	7	670	c.502T>C	c.(502-504)Tcc>Ccc	p.S168P	PPP4C_ENST00000561610.1_Missense_Mutation_p.S168P	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	168					dephosphorylation (GO:0016311)|NIK/NF-kappaB signaling (GO:0038061)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase 4 complex (GO:0030289)	metal ion binding (GO:0046872)|NF-kappaB-inducing kinase activity (GO:0004704)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						CGGGGGCCTCTCCCCCTCCAT	0.622																																						ENST00000279387.7																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						c.(502-504)Tcc>Ccc		protein phosphatase 4, catalytic subunit							73	70	71					16																	30095000		2197	4300	6497	SO:0001583	missense	5531				microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity	g.chr16:30095000T>C		CCDS10669.1	16p11.2	2010-03-17	2010-03-05		ENSG00000149923	ENSG00000149923	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9319	protein-coding gene	gene with protein product	"protein phosphatase X, catalytic subunit"	602035	"protein phosphatase 4 (formerly X), catalytic subunit"			9177794	Standard	NM_002720		Approved	PP4, PPX	uc002dwf.3	P60510	OTTHUMG00000132113	ENST00000279387.7:c.502T>C	16.37:g.30095000T>C	ENSP00000279387:p.Ser168Pro					PPP4C_ENST00000561610.1_Missense_Mutation_p.S168P	p.S168P	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN			7	670	+			168					P33172	Missense_Mutation	SNP	ENST00000279387.7	37	c.502T>C	CCDS10669.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.504440	0.85176	.	.	ENSG00000149923	ENST00000279387	T	0.27720	1.65	5.9	5.9	0.94986	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.69602	0.3129	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80605	-0.1308	10	0.72032	D	0.01	-6.6671	15.3117	0.74039	0.0:0.0:0.0:1.0	.	168	P60510	PP4C_HUMAN	P	168	ENSP00000279387:S168P	ENSP00000279387:S168P	S	+	1	0	PPP4C	30002501	1.000000	0.71417	0.990000	0.47175	0.655000	0.38815	5.057000	0.64294	2.257000	0.74773	0.528000	0.53228	TCC		0.622	PPP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255155.2	NM_002720		3	135	0	0	0	0.184627	0	3	135					C	30095000	T	C	30095000	3	2	220	1	0	0	0	0	1	0	0	0	12402	1551	54	3	524	3	PPP4C	16	30095000	Missense_Mutation	SNP	T	TCGA-EL-A3GZ-01A-11D-A20C-08		30095000	60259753	12	4630											
ZNF578	147660	broad.mit.edu	37	chr19	53014565	53014565	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatcgtagatgtcacactGgtgagaaaccttacaagtgt	10	9	1	2			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr19:53014565G>A	ENST00000421239.2	+	6	1175	c.931G>A	c.(931-933)Ggt>Agt	p.G311S	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ATGTCACACTGGTGAGAAACC	0.418																																						ENST00000421239.2																			0											c.(931-933)Ggt>Agt		zinc finger protein 578							104	107	106					19																	53014565		2203	4300	6503	SO:0001583	missense	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53014565G>A	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"Zinc fingers, C2H2-type", "-"	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.931G>A	19.37:g.53014565G>A	ENSP00000459216:p.Gly311Ser					CTD-3099C6.5_ENST00000599143.1_RNA	p.G311S	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	6	1175	+			86					B4DR51|I3L1Y6	Missense_Mutation	SNP	ENST00000421239.2	37	c.931G>A	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	16.30	3.084506	0.55861	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.37	1.37	0.22104	.	.	.	.	.	T	0.26048	0.0635	L	0.41492	1.28	0.22827	N	0.998689	P	0.37708	0.606	B	0.37833	0.259	T	0.12218	-1.0556	7	.	.	.	.	5.0884	0.14694	0.2005:0.0:0.7995:0.0	.	311	G3V4F6	.	S	311	.	.	G	+	1	0	ZNF578	57706377	0.608000	0.26966	0.249000	0.24280	0.125000	0.20455	3.734000	0.55037	0.767000	0.33267	0.297000	0.19635	GGT		0.418	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472		4	141	0	0	0	0.217242	0	4	141					A	53014565	G	A	53014565	3	1	220	1	0	0	0	0	1	0	0	0	18007	1348	47	2	941	2	ZNF578	19	53014565	Missense_Mutation	SNP	G	TCGA-EL-A3GZ-01A-11D-A20C-08		53014565	6114418	13	4631											
ELFN2	114794	broad.mit.edu	37	chr22	37771091	37771091	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accgtccaggcggctgaggcGgttggaggacaggtcgatgc	18	10	0	1			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr22:37771091G>T	ENST00000402918.2	-	3	1269	c.484C>A	c.(484-486)Cgc>Agc	p.R162S	RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.8_ENST00000609322.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	162					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CGGCTGAGGCGGTTGGAGGAC	0.637																																						ENST00000402918.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35						c.(484-486)Cgc>Agc		extracellular leucine-rich repeat and fibronectin type III domain containing 2							60	59	59					22																	37771091		2203	4298	6501	SO:0001583	missense	114794					cell surface|integral to membrane		g.chr22:37771091G>T	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing"	29396	protein-coding gene	gene with protein product			"leucine rich repeat containing 62", "extracellular leucine-rich repeat and fibronectin type III containing 2", "extracellular leucine-rich repeat and fibronectin type III domain containing 2", "protein phosphatase 1, regulatory subunit 29"	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.484C>A	22.37:g.37771091G>T	ENSP00000385277:p.Arg162Ser					RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Missense_Mutation_p.R162S	p.R162S	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN			3	1269	-	Melanoma(58;0.0574)		162					Q96PY3	Missense_Mutation	SNP	ENST00000402918.2	37	c.484C>A	CCDS33642.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.040640	0.55003	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.51574	0.7;0.7	4.52	4.52	0.55395	.	0.056499	0.64402	D	0.000003	T	0.58221	0.2107	L	0.53729	1.69	0.47994	D	0.999564	D	0.57257	0.979	P	0.58820	0.846	T	0.61559	-0.7038	10	0.66056	D	0.02	-27.1007	12.6929	0.56985	0.0:0.0:0.835:0.165	.	162	Q5R3F8	PPR29_HUMAN	S	162	ENSP00000300147:R162S;ENSP00000385277:R162S	ENSP00000300147:R162S	R	-	1	0	ELFN2	36101037	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.693000	0.61753	2.233000	0.73108	0.514000	0.50259	CGC		0.637	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		65	105	1	0	3.83446e-41	0.870114	5.32563e-41	65	105					T	37771091	G	T	37771091	3	4	220	1	0	0	0	0	1	0	0	0	5058	1116	39	4	1982	4	ELFN2	22	37771091	Missense_Mutation	SNP	G	TCGA-EL-A3GZ-01A-11D-A20C-08		37771091	13533475	14	4632											
ESX1	80712	broad.mit.edu	37	chrX	103495055	103495055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcgccatgggcggcccggGtggcagaggcgccatgggcg	21	12	0	1			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chrX:103495055G>A	ENST00000372588.4	-	4	1158	c.1075C>T	c.(1075-1077)Ccc>Tcc	p.P359S		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	359	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	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)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GGCGGCCCGGGTGGCAGAGGC	0.756																																					Pancreas(200;1705 2227 25194 28471 45274)	ENST00000372588.4																			0				endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						c.(1075-1077)Ccc>Tcc		ESX homeobox 1							5	6	6					X																	103495055		1382	2875	4257	SO:0001583	missense	80712				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:103495055G>A	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"Homeoboxes / PRD class"	14865	protein-coding gene	gene with protein product		300154	"extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.1075C>T	X.37:g.103495055G>A	ENSP00000361669:p.Pro359Ser						p.P359S	NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN			4	1158	-			359			15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.		B0QYU3|Q7Z6K7	Missense_Mutation	SNP	ENST00000372588.4	37	c.1075C>T	CCDS14516.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.412113	0.25465	.	.	ENSG00000123576	ENST00000372588	T	0.76448	-1.02	2.3	2.3	0.28687	.	.	.	.	.	T	0.82208	0.4987	L	0.61218	1.895	0.09310	N	1	D	0.59357	0.985	P	0.57776	0.827	T	0.70916	-0.4742	9	0.87932	D	0	.	9.8512	0.41057	0.0:0.0:1.0:0.0	.	359	Q8N693	ESX1_HUMAN	S	359	ENSP00000361669:P359S	ENSP00000361669:P359S	P	-	1	0	ESX1	103381711	0.002000	0.14202	0.001000	0.08648	0.020000	0.10135	0.488000	0.22371	1.191000	0.43056	0.190000	0.17370	CCC		0.756	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448		5	9	0	0	0	0.217242	0	5	9					A	103495055	G	A	103495055	3	1	220	1	0	0	0	0	1	0	0	0	5263	1261	44	2	149	2	ESX1	23	103495055	Missense_Mutation	SNP	G	TCGA-EL-A3GZ-01A-11D-A20C-08		103495055	51775505	15	4633											
CLCNKB	1188	broad.mit.edu	37	chr1	16378296	16378296	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcaccaatcccatcatgccAggggggtatgctctggcagg	12	12	3	0	rs199755248		TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr1:16378296A>C	ENST00000375679.4	+	14	1500	c.1389A>C	c.(1387-1389)ccA>ccC	p.P463P	CLCNKB_ENST00000375667.3_Silent_p.P294P	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	463					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CCATCATGCCAGGGGGGTATG	0.622													C|||	1	0.000199681	0	0	5008	,	,		18264	0.001		0	False		,,,				2504	0					ENST00000375679.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21	GRCh37	CD004305	CLCNKB	D		c.(1387-1389)ccA>ccC		chloride channel, voltage-sensitive Kb							66	66	66					1																	16378296		2203	4300	6503	SO:0001819	synonymous_variant	1188							g.chr1:16378296A>C	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"Ion channels / Chloride channels : Voltage-sensitive"	2027	protein-coding gene	gene with protein product		602023	"chloride channel Kb"				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.1389A>C	1.37:g.16378296A>C						CLCNKB_ENST00000375667.3_Silent_p.P294P	p.P463P	NM_000085.4	NP_000076.2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	14	1500	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)						B3KUY3|Q5T5Q7|Q5T5Q8	Silent	SNP	ENST00000375679.4	37	c.1389A>C	CCDS168.1																																																																																				0.622	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		4	87	0	0	0	1	0	4	87					C	16378296	A	C	16378296	2	2	221	1	0	0	0	0	0	0	0	1	3470	175	7	5		5	CLCNKB	1	16378296	Silent	SNP	A	TCGA-EL-A3H1-01A-11D-A21A-08		16378296	232872325	1	4634											
GBP5	115362	broad.mit.edu	37	chr1	89732216	89732216	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aagcatttcttttttggaaaGaacttctgtatacacagacg	7	7	2	2			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr1:89732216G>C	ENST00000370459.3	-	6	808	c.681C>G	c.(679-681)ttC>ttG	p.F227L	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000343435.5_Missense_Mutation_p.F227L			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	227	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TTTTTGGAAAGAACTTCTGTA	0.368																																						ENST00000343435.5																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24						c.(679-681)ttC>ttG		guanylate binding protein 5							124	127	126					1																	89732216		2203	4300	6503	SO:0001583	missense	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89732216G>C	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.681C>G	1.37:g.89732216G>C	ENSP00000359488:p.Phe227Leu					RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000481145.1_5'UTR|GBP5_ENST00000370459.3_Missense_Mutation_p.F227L	p.F227L	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	7	1217	-			227					B2RCE1|Q86TM5	Missense_Mutation	SNP	ENST00000370459.3	37	c.681C>G	CCDS722.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642706	0.47153	.	.	ENSG00000154451	ENST00000343435;ENST00000370459;ENST00000443807	T;T;T	0.76186	-1.0;-1.0;-1.0	5.01	2.87	0.33458	Guanylate-binding protein, N-terminal (1);	0.181111	0.48767	D	0.000177	T	0.63307	0.2500	M	0.66506	2.035	0.32851	D	0.506651	P	0.41102	0.738	P	0.45913	0.497	T	0.64084	-0.6490	10	0.66056	D	0.02	-11.7355	8.0779	0.30726	0.2301:0.0:0.7699:0.0	.	227	Q96PP8	GBP5_HUMAN	L	227	ENSP00000340396:F227L;ENSP00000359488:F227L;ENSP00000403010:F227L	ENSP00000340396:F227L	F	-	3	2	GBP5	89504804	1.000000	0.71417	1.000000	0.80357	0.051000	0.14879	3.729000	0.54999	0.645000	0.30675	0.549000	0.68633	TTC		0.368	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942		15	16	0	0	0	1	0	15	16					C	89732216	G	C	89732216	3	2	221	1	0	0	0	0	1	0	0	0	6277	933	33	4	1103	4	GBP5	1	89732216	Missense_Mutation	SNP	G	TCGA-EL-A3H1-01A-11D-A21A-08	73353920	89732216	159518405	2	4635											
GJA8	2703	broad.mit.edu	37	chr1	147381186	147381186	+	Frame_Shift_Del	DEL	G	G	-													gagaaggtggccgtgccagaGggggagaaagtagagacccc					rs145146702	byFrequency	TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr1:147381186delG	ENST00000369235.1	+	1	1104	c.1104delG	c.(1102-1104)gagfs	p.E368fs	GJA8_ENST00000240986.4_Frame_Shift_Del_p.E368fs			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	368					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)	p.E368D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CCGTGCCAGAGGGGGAGAAAG	0.612																																					Melanoma(76;1255 1795 8195 52096)	ENST00000240986.4																			1	Substitution - Missense(1)	p.E368D(1)	large_intestine(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37						c.(1102-1104)gafs		gap junction protein, alpha 8, 50kDa							45	47	47					1																	147381186		2200	4298	6498	SO:0001589	frameshift_variant	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147381186delG	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"Ion channels / Gap junction proteins (connexins)"	4281	protein-coding gene	gene with protein product	"connexin 50"	600897	"gap junction protein, alpha 8, 50kD (connexin 50)", "gap junction protein, alpha 8, 50kDa (connexin 50)"	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.1104delG	1.37:g.147381186delG	ENSP00000358238:p.Glu368fs					GJA8_ENST00000369235.1_Frame_Shift_Del_p.E368fs	p.E368fs	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN			2	1157	+	all_hematologic(923;0.0276)		368					A7L5M5|Q5VVN9|Q9NP25	Frame_Shift_Del	DEL	ENST00000369235.1	37	c.1104delG	CCDS30834.1																																																																																				0.612	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		2	4						2	4	---	---	---	---	-	147381186	G	-	147381186	7	5	221	1	0	1	0	1	0	0	0	0	6405	991	35	0	1106	0	GJA8	1	147381186	Frame_Shift_Del	DEL	G	TCGA-EL-A3H1-01A-11D-A21A-08	57648970	147381186	101869435	3	4636											
ABCG5	64240	broad.mit.edu	37	chr2	44055183	44055183	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctcacccgtggaaatgccCcccaagctgtagttgccaat	9	15	1	0			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr2:44055183C>T	ENST00000260645.1	-	5	712	c.573G>A	c.(571-573)ggG>ggA	p.G191G	ABCG5_ENST00000405322.1_Silent_p.G110G|ABCG5_ENST00000543989.1_5'UTR	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	191	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	TGGAAATGCCCCCCAAGCTGT	0.592																																						ENST00000405322.1																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(328-330)ggG>ggA		ATP-binding cassette, sub-family G (WHITE), member 5							58	53	55					2																	44055183		2203	4300	6503	SO:0001819	synonymous_variant	64240				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44055183C>T	T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"ATP binding cassette transporters / subfamily G"	13886	protein-coding gene	gene with protein product	"sterolin 1"	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.573G>A	2.37:g.44055183C>T						ABCG5_ENST00000543989.1_5'UTR|ABCG5_ENST00000260645.1_Silent_p.G191G	p.G110G			Q9H222	ABCG5_HUMAN			4	1226	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	191			ABC transporter.		Q2T9G2|Q96QZ2|Q96QZ3	Silent	SNP	ENST00000260645.1	37	c.330G>A	CCDS1814.1																																																																																				0.592	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1	NM_022436		10	54	0	0	0	1	0	10	54					T	44055183	C	T	44055183	2	4	221	1	0	0	0	0	0	0	0	1	71	610	22	2		2	ABCG5	2	44055183	Silent	SNP	C	TCGA-EL-A3H1-01A-11D-A21A-08		44055183	199144190	4	4637											
SLC9A2	6549	broad.mit.edu	37	chr2	103324773	103324773	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacaccccacagcagagaaaAgggcacccagacgtcaggct	10	14	1	2			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr2:103324773A>G	ENST00000233969.2	+	12	2406	c.2264A>G	c.(2263-2265)aAg>aGg	p.K755R		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	755					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						AGCAGAGAAAAGGGCACCCAG	0.532																																						ENST00000233969.2																			0				breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(2263-2265)aAg>aGg		solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2							138	148	144					2																	103324773		2203	4300	6503	SO:0001583	missense	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103324773A>G		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"Solute carriers"	11072	protein-coding gene	gene with protein product		600530	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 2", "solute carrier family 9 (sodium/hydrogen exchanger), member 2"	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.2264A>G	2.37:g.103324773A>G	ENSP00000233969:p.Lys755Arg						p.K755R	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN			12	2406	+			755					B2RMS2	Missense_Mutation	SNP	ENST00000233969.2	37	c.2264A>G	CCDS2062.1	.	.	.	.	.	.	.	.	.	.	A	2.696	-0.272046	0.05716	.	.	ENSG00000115616	ENST00000233969	T	0.54866	0.55	5.24	2.23	0.28157	.	1.812460	0.02136	N	0.056732	T	0.33876	0.0878	N	0.14661	0.345	0.19575	N	0.999964	B	0.14012	0.009	B	0.15484	0.013	T	0.18999	-1.0319	10	0.16420	T	0.52	.	3.747	0.08552	0.207:0.0:0.5877:0.2053	.	755	Q9UBY0	SL9A2_HUMAN	R	755	ENSP00000233969:K755R	ENSP00000233969:K755R	K	+	2	0	SLC9A2	102691205	0.487000	0.25988	0.957000	0.39632	0.049000	0.14656	0.847000	0.27696	0.769000	0.33313	-0.248000	0.11899	AAG		0.532	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2			3	107	0	0	0	1	0	3	107					G	103324773	A	G	103324773	3	3	221	1	0	0	0	0	1	0	0	0	14712	72	3	3	2310	3	SLC9A2	2	103324773	Missense_Mutation	SNP	A	TCGA-EL-A3H1-01A-11D-A21A-08	59269590	103324773	139874600	5	4638											
SCN3A	6328	broad.mit.edu	37	chr2	165947659	165947659	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gacatcccaaagatggcataGataaacatgaccaggaagag	10	8	0	4			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr2:165947659G>C	ENST00000360093.3	-	28	5495	c.5004C>G	c.(5002-5004)atC>atG	p.I1668M	SCN3A_ENST00000540861.1_Missense_Mutation_p.I151M|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000409101.3_Missense_Mutation_p.I1619M|SCN3A_ENST00000283254.7_Missense_Mutation_p.I1668M|SCN3A_ENST00000465043.1_5'Flank	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1668					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)	AGATGGCATAGATAAACATGA	0.458																																						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.(5002-5004)atC>atG		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						154	149	150					2																	165947659		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165947659G>C	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.5004C>G	2.37:g.165947659G>C	ENSP00000353206:p.Ile1668Met					SCN3A_ENST00000283254.7_Missense_Mutation_p.I1668M|SCN3A_ENST00000409101.3_Missense_Mutation_p.I1619M|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000540861.1_Missense_Mutation_p.I151M	p.I1668M	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			28	5495	-			1668					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.5004C>G		.	.	.	.	.	.	.	.	.	.	G	15.65	2.896875	0.52121	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000540861	D;D;D;D	0.99032	-5.35;-5.35;-5.35;-5.35	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000006	D	0.99223	0.9730	M	0.83312	2.635	0.58432	D	0.999991	D;D;D	0.89917	0.997;1.0;0.998	D;D;D	0.87578	0.994;0.998;0.965	D	0.98965	1.0799	10	0.87932	D	0	.	13.4305	0.61053	0.0713:0.0:0.9287:0.0	.	1619;1619;1668	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	M	1668;1668;1619;151	ENSP00000353206:I1668M;ENSP00000283254:I1668M;ENSP00000386726:I1619M;ENSP00000439920:I151M	ENSP00000283254:I1668M	I	-	3	3	SCN3A	165655905	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.664000	0.74437	2.784000	0.95788	0.580000	0.79431	ATC		0.458	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		31	39	0	0	0	1	0	31	39					C	165947659	G	C	165947659	3	2	221	1	0	0	0	0	1	0	0	0	13918	932	33	4	1002	4	SCN3A	2	165947659	Missense_Mutation	SNP	G	TCGA-EL-A3H1-01A-11D-A21A-08	62622886	165947659	77251714	6	4639											
NUP35	129401	broad.mit.edu	37	chr2	183998333	183998333	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagtcctcttgttggagttAcatctactcctggaacaggt	10	9	2	1			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr2:183998333A>G	ENST00000295119.4	+	4	482	c.379A>G	c.(379-381)Aca>Gca	p.T127A	NUP35_ENST00000541912.1_5'UTR|NUP35_ENST00000409798.1_Missense_Mutation_p.T110A	NM_138285.3	NP_612142.2	Q8NFH5	NUP53_HUMAN	nucleoporin 35kDa	127					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)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						TGTTGGAGTTACATCTACTCC	0.373																																						ENST00000295119.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						c.(379-381)Aca>Gca		nucleoporin 35kDa							101	95	97					2																	183998333		2203	4299	6502	SO:0001583	missense	129401				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane		g.chr2:183998333A>G	AF514993	CCDS2290.1, CCDS74614.1	2q32	2008-02-05			ENSG00000163002	ENSG00000163002			29797	protein-coding gene	gene with protein product		608140					Standard	XM_005246284		Approved	MP44	uc002upf.3	Q8NFH5	OTTHUMG00000132621	ENST00000295119.4:c.379A>G	2.37:g.183998333A>G	ENSP00000295119:p.Thr127Ala					NUP35_ENST00000541912.1_5'UTR|NUP35_ENST00000409798.1_Missense_Mutation_p.T110A	p.T127A	NM_138285.3	NP_612142.2	Q8NFH5	NUP53_HUMAN			4	482	+			127					B4DP57|B4DYB4|Q4ZFZ9|Q53S95|Q8TDJ1	Missense_Mutation	SNP	ENST00000295119.4	37	c.379A>G	CCDS2290.1	.	.	.	.	.	.	.	.	.	.	A	0.344	-0.948819	0.02304	.	.	ENSG00000163002	ENST00000446612;ENST00000409798;ENST00000295119	T;T;T	0.42513	1.07;0.97;0.97	5.47	0.459	0.16678	.	0.660669	0.16103	N	0.229473	T	0.11367	0.0277	N	0.01352	-0.895	0.58432	D	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.20974	-1.0259	10	0.07325	T	0.83	.	5.0544	0.14525	0.6134:0.1471:0.2394:0.0	.	127	Q8NFH5	NUP53_HUMAN	A	110;110;127	ENSP00000412554:T110A;ENSP00000387305:T110A;ENSP00000295119:T127A	ENSP00000295119:T127A	T	+	1	0	NUP35	183706578	0.996000	0.38824	0.627000	0.29227	0.393000	0.30537	1.423000	0.34837	0.121000	0.18284	0.459000	0.35465	ACA		0.373	NUP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255865.1	NM_138285		2	6	0	0	0	1	0	2	6					G	183998333	A	G	183998333	3	3	221	1	0	0	0	0	1	0	0	0	10763	391	14	3	393	3	NUP35	2	183998333	Missense_Mutation	SNP	A	TCGA-EL-A3H1-01A-11D-A21A-08	18050674	183998333	59201040	7	4640											
ANKMY1	51281	broad.mit.edu	37	chr2	241447070	241447070	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagcctttggtcaggggcagGttggggtcagctccctgggt	17	9	2	0	rs200515527		TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr2:241447070G>T	ENST00000272972.3	-	12	2380	c.2166C>A	c.(2164-2166)aaC>aaA	p.N722K	ANKMY1_ENST00000403283.1_Missense_Mutation_p.N624K|ANKMY1_ENST00000401804.1_Missense_Mutation_p.N811K|ANKMY1_ENST00000391987.1_Missense_Mutation_p.N722K|ANKMY1_ENST00000373320.4_Missense_Mutation_p.N492K|ANKMY1_ENST00000361678.4_Missense_Mutation_p.N498K|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000406958.1_Missense_Mutation_p.N483K	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	722							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TCAGGGGCAGGTTGGGGTCAG	0.592																																						ENST00000391987.1																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30						c.(2164-2166)aaC>aaA		ankyrin repeat and MYND domain containing 1							82	76	78					2																	241447070		2203	4300	6503	SO:0001583	missense	51281						zinc ion binding	g.chr2:241447070G>T	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"Zinc fingers, MYND-type", "Ankyrin repeat domain containing"	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.2166C>A	2.37:g.241447070G>T	ENSP00000272972:p.Asn722Lys					ANKMY1_ENST00000272972.3_Missense_Mutation_p.N722K|ANKMY1_ENST00000403283.1_Missense_Mutation_p.N624K|ANKMY1_ENST00000401804.1_Missense_Mutation_p.N811K|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000373320.4_Missense_Mutation_p.N492K|ANKMY1_ENST00000361678.4_Missense_Mutation_p.N498K|ANKMY1_ENST00000406958.1_Missense_Mutation_p.N483K	p.N722K			Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	13	2532	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	722					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	ENST00000272972.3	37	c.2166C>A	CCDS2536.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	9.490|9.490	1.100556|1.100556	0.20552|0.20552	.|.	.|.	ENSG00000144504|ENSG00000144504	ENST00000406958;ENST00000272972;ENST00000361678;ENST00000391987;ENST00000373320;ENST00000403283;ENST00000401804|ENST00000391988	T;T;T;T;T;T;T|.	0.77098|.	-0.94;-0.84;-0.66;-0.84;-0.57;-1.07;-0.74|.	2.16|2.16	0.232|0.232	0.15381|0.15381	Ankyrin repeat-containing domain (4);|.	0.000000|.	0.64402|.	U|.	0.000001|.	T|T	0.61800|0.61800	0.2376|0.2376	M|M	0.78801|0.78801	2.425|2.425	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	0.999;0.999;1.0;0.998;0.999|.	D;D;D;D;D|.	0.79784|.	0.96;0.935;0.993;0.938;0.96|.	T|T	0.57423|0.57423	-0.7814|-0.7814	10|5	0.72032|.	D|.	0.01|.	-35.7979|-35.7979	4.4328|4.4328	0.11536|0.11536	0.3609:0.0:0.6391:0.0|0.3609:0.0:0.6391:0.0	.|.	722;492;483;498;722|.	Q4ZFV3;Q9P2S6-4;B5MBY4;Q9P2S6-2;Q9P2S6|.	.;.;.;.;ANKY1_HUMAN|.	K|T	483;722;498;722;492;624;811|152	ENSP00000384555:N483K;ENSP00000272972:N722K;ENSP00000355097:N498K;ENSP00000375847:N722K;ENSP00000362417:N492K;ENSP00000383968:N624K;ENSP00000385887:N811K|.	ENSP00000272972:N722K|.	N|P	-|-	3|1	2|0	ANKMY1|ANKMY1	241095743|241095743	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.085000|0.085000	0.17905|0.17905	1.340000|1.340000	0.33896|0.33896	0.044000|0.044000	0.15775|0.15775	0.282000|0.282000	0.19409|0.19409	AAC|CCT		0.592	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		20	20	1	0	5.45024e-15	1	5.69798e-15	20	20					T	241447070	G	T	241447070	3	4	221	1	0	0	0	0	1	0	0	0	634	1252	44	4	683	4	ANKMY1	2	241447070	Missense_Mutation	SNP	G	TCGA-EL-A3H1-01A-11D-A21A-08	57448737	241447070	1752303	8	4641											
LMOD3	56203	broad.mit.edu	37	chr3	69171306	69171306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catgcgcctggatgccttttCccaatacatataatcaacaa	5	12	1	0			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr3:69171306C>T	ENST00000420581.2	-	1	411	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	LMOD3_ENST00000475434.1_Missense_Mutation_p.E78K|LMOD3_ENST00000489031.1_Missense_Mutation_p.E78K	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	78						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		GATGCCTTTTCCCAATACATA	0.463																																						ENST00000420581.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13						c.(232-234)Gaa>Aaa		leiomodin 3 (fetal)							76	72	73					3																	69171306		1872	4108	5980	SO:0001583	missense	56203					cytoplasm|cytoskeleton	tropomyosin binding	g.chr3:69171306C>T	AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.232G>A	3.37:g.69171306C>T	ENSP00000414670:p.Glu78Lys					LMOD3_ENST00000489031.1_Missense_Mutation_p.E78K|LMOD3_ENST00000475434.1_Missense_Mutation_p.E78K	p.E78K	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)	1	411	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	78					B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Missense_Mutation	SNP	ENST00000420581.2	37	c.232G>A	CCDS46862.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737060	0.69304	.	.	ENSG00000163380	ENST00000420581;ENST00000489031;ENST00000475434	T;T;T	0.26223	1.75;1.75;1.75	5.69	4.82	0.62117	.	0.104769	0.64402	D	0.000005	T	0.28863	0.0716	L	0.49126	1.545	0.52501	D	0.999956	P	0.40000	0.698	B	0.41946	0.371	T	0.02539	-1.1144	10	0.35671	T	0.21	-17.6549	14.8288	0.70132	0.0:0.3102:0.6898:0.0	.	78	Q0VAK6	LMOD3_HUMAN	K	78	ENSP00000414670:E78K;ENSP00000417210:E78K;ENSP00000418645:E78K	ENSP00000414670:E78K	E	-	1	0	LMOD3	69253996	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.973000	0.56845	1.419000	0.47118	0.591000	0.81541	GAA		0.463	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352138.1	XM_067529		3	2	0	0	0	1	0	3	2					T	69171306	C	T	69171306	3	4	221	1	0	0	0	0	1	0	0	0	8858	864	30	2	1462	2	LMOD3	3	69171306	Missense_Mutation	SNP	C	TCGA-EL-A3H1-01A-11D-A21A-08		69171306	128851124	9	4642											
MUC7	4589	broad.mit.edu	37	chr4	71346615	71346615	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccacattatcctggactgCtagctcaccagaagccgttc	7	14	1	1			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr4:71346615C>T	ENST00000304887.5	+	3	344	c.154C>T	c.(154-156)Cta>Tta	p.L52L	MUC7_ENST00000456088.1_Silent_p.L52L|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000413702.1_Silent_p.L52L	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	52					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TCCTGGACTGCTAGCTCACCA	0.458																																						ENST00000413702.1																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(154-156)Cta>Tta		mucin 7, secreted							174	172	173					4																	71346615		2203	4300	6503	SO:0001819	synonymous_variant	4589					extracellular region	protein binding	g.chr4:71346615C>T	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"Mucins"	7518	protein-coding gene	gene with protein product		158375	"mucin 7, salivary"			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.154C>T	4.37:g.71346615C>T						MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Silent_p.L52L|MUC7_ENST00000304887.5_Silent_p.L52L	p.L52L	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	442	+			52					Q9UCD7|Q9UCD8	Silent	SNP	ENST00000304887.5	37	c.154C>T	CCDS3541.1																																																																																				0.458	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		4	98	0	0	0	1	0	4	98					T	71346615	C	T	71346615	2	4	221	1	0	0	0	0	0	0	0	1	9981	796	28	2		2	MUC7	4	71346615	Silent	SNP	C	TCGA-EL-A3H1-01A-11D-A21A-08		71346615	119807661	10	4643											
SLC6A3	6531	broad.mit.edu	37	chr5	1409913	1409913	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctcacggtgtctgtgcaGcagctggaactcatcgatga	13	10	3	1			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr5:1409913G>A	ENST00000270349.9	-	10	1448	c.1321C>T	c.(1321-1323)Ctg>Ttg	p.L441L	SLC6A3_ENST00000453492.2_Silent_p.L441L	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	441					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TGTCTGTGCAGCAGCTGGAAC	0.617																																						ENST00000270349.9																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1321-1323)Ctg>Ttg		solute carrier family 6 (neurotransmitter transporter), member 3	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						202	148	166					5																	1409913		2203	4300	6503	SO:0001819	synonymous_variant	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1409913G>A		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"Solute carriers"	11049	protein-coding gene	gene with protein product	"dopamine transporter"	126455	"solute carrier family 6 (neurotransmitter transporter, dopamine), member 3", "dopamine transporter 1"	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1321C>T	5.37:g.1409913G>A						SLC6A3_ENST00000453492.2_Silent_p.L441L	p.L441L	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		10	1448	-			441					A2RUN4|Q14996	Silent	SNP	ENST00000270349.9	37	c.1321C>T	CCDS3863.1																																																																																				0.617	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		4	145	0	0	0	1	0	4	145					A	1409913	G	A	1409913	2	1	221	1	0	0	0	0	0	0	0	1	14685	962	34	2		2	SLC6A3	5	1409913	Silent	SNP	G	TCGA-EL-A3H1-01A-11D-A21A-08		1409913	179505347	11	4644											
GPR98	84059	broad.mit.edu	37	chr5	90087090	90087090	+	Frame_Shift_Del	DEL	A	A	-													agaacagccgattgttaccgAaaatgcagagaggcagctgg							TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr5:90087090delA	ENST00000405460.2	+	70	14540	c.14444delA	c.(14443-14445)gaafs	p.E4815fs	GPR98_ENST00000425867.2_Frame_Shift_Del_p.E476fs	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4815					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATTGTTACCGAAAATGCAGAG	0.448																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(14443-14445)gafs		G protein-coupled receptor 98							28	28	28					5																	90087090		2070	4202	6272	SO:0001589	frameshift_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90087090delA	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.14444delA	5.37:g.90087090delA	ENSP00000384582:p.Glu4815fs					GPR98_ENST00000425867.2_Frame_Shift_Del_p.E476fs	p.E4815fs	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	70	14540	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	4815					O75171|Q8TF58|Q9H0X5|Q9UL61	Frame_Shift_Del	DEL	ENST00000405460.2	37	c.14444delA	CCDS47246.1																																																																																				0.448	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		2	4						2	4	---	---	---	---	-	90087090	A	-	90087090	7	5	221	1	0	1	0	1	0	0	0	0	6721	246	9	0	14722	0	GPR98	5	90087090	Frame_Shift_Del	DEL	A	TCGA-EL-A3H1-01A-11D-A21A-08	88677177	90087090	90828170	12	4645											
GPR151	134391	broad.mit.edu	37	chr5	145895223	145895223	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcactgaccagatggtgtAgttgtggatactcacttgct	11	9	1	2			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr5:145895223A>C	ENST00000311104.2	-	1	530	c.454T>G	c.(454-456)Tac>Gac	p.Y152D		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGATGGTGTAGTTGTGGATA	0.527																																					Pancreas(78;420 1386 18535 37114 49710)	ENST00000311104.2																			0				endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14						c.(454-456)Tac>Gac		G protein-coupled receptor 151							152	129	137					5																	145895223		2203	4300	6503	SO:0001583	missense	134391					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr5:145895223A>C	AY255557	CCDS34266.1	5q32	2012-08-21						"GPCR / Class A : Orphans"	23624	protein-coding gene	gene with protein product	"galanin receptor 4"					12679517	Standard	NM_194251		Approved	PGR7, GALR4	uc003lod.1	Q8TDV0		ENST00000311104.2:c.454T>G	5.37:g.145895223A>C	ENSP00000308733:p.Tyr152Asp						p.Y152D	NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	530	-			152					Q86SN8|Q8NGV2	Missense_Mutation	SNP	ENST00000311104.2	37	c.454T>G	CCDS34266.1	.	.	.	.	.	.	.	.	.	.	A	1.158	-0.644586	0.03531	.	.	ENSG00000173250	ENST00000311104	T	0.37058	1.22	5.67	-1.48	0.08745	GPCR, rhodopsin-like superfamily (1);	0.534643	0.21528	N	0.073082	T	0.15305	0.0369	N	0.08118	0	0.09310	N	0.999994	B	0.10296	0.003	B	0.04013	0.001	T	0.15321	-1.0441	10	0.37606	T	0.19	.	7.7218	0.28736	0.3544:0.1457:0.4999:0.0	.	152	Q8TDV0	GP151_HUMAN	D	152	ENSP00000308733:Y152D	ENSP00000308733:Y152D	Y	-	1	0	GPR151	145875416	0.056000	0.20664	0.157000	0.22605	0.144000	0.21451	0.252000	0.18278	-0.139000	0.11414	-0.290000	0.09829	TAC		0.527	GPR151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373457.1	NM_194251		52	82	0	0	0	1	0	52	82					C	145895223	A	C	145895223	3	2	221	1	0	0	0	0	1	0	0	0	6657	420	15	5	809	5	GPR151	5	145895223	Missense_Mutation	SNP	A	TCGA-EL-A3H1-01A-11D-A21A-08	55808133	145895223	35020037	13	4646											
AHI1	54806	broad.mit.edu	37	chr6	135715913	135715913	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caaagtaagaaaggggctcaCcggtctgagtgaaaccaaac	11	9	2	3			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr6:135715913C>G	ENST00000367800.4	-	21	3326		c.e21+1		AHI1_ENST00000327035.6_Splice_Site|AHI1_ENST00000417892.2_Splice_Site|AHI1_ENST00000457866.2_Splice_Site	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1						cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		AAGGGGCTCACCGGTCTGAGT	0.388																																						ENST00000367800.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37						c.e21+1		Abelson helper integration site 1							93	91	92					6																	135715913		1853	4106	5959	SO:0001630	splice_region_variant	54806					adherens junction|cilium|microtubule basal body		g.chr6:135715913C>G	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"WD repeat domain containing"	21575	protein-coding gene	gene with protein product	"Jouberin"	608894	"Abelson helper integration site"			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.3109+1G>C	6.37:g.135715913C>G						AHI1_ENST00000327035.6_Splice_Site|AHI1_ENST00000417892.2_Splice_Site|AHI1_ENST00000457866.2_Splice_Site		NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	21	3326	-	Breast(56;0.239)|Colorectal(23;0.24)							E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Splice_Site	SNP	ENST00000367800.4	37		CCDS47483.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.969492|3.969492	0.74246|0.74246	.|.	.|.	ENSG00000135541|ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000417892;ENST00000367799;ENST00000265602;ENST00000327035;ENST00000367801|ENST00000529865	.|.	.|.	.|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|.	.|.	.|.	.|.	.|T	.|0.66177	.|0.2763	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.63278	.|-0.6673	.|4	.|.	.|.	.|.	.|.	16.6974|16.6974	0.85339|0.85339	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|L	-1|104	.|.	.|.	.|V	-|-	.|1	.|0	AHI1|AHI1	135757606|135757606	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.933000|0.933000	0.57130|0.57130	4.636000|4.636000	0.61339|0.61339	2.797000|2.797000	0.96272|0.96272	0.655000|0.655000	0.94253|0.94253	.|GTG		0.388	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651	Intron	3	6	0	0	0	1	0	3	6					G	135715913	C	G	135715913	5	3	221	1	0	0	0	0	0	0	1	0	413	521	18	4	565	4	AHI1	6	135715913	Splice_Site	SNP	C	TCGA-EL-A3H1-01A-11D-A21A-08		135715913	35399154	14	4647											
CALD1	800	broad.mit.edu	37	chr7	134618624	134618625	+	Frame_Shift_Ins	INS	-	-	C													aagagaaaagggcagcagagINSgagaggcaaagggccagggc					rs193221622		TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr7:134618624_134618625insC	ENST00000361675.2	+	5	1333_1334	c.1104_1105insC	c.(1105-1107)gagfs	p.E369fs	CALD1_ENST00000424922.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000393118.2_Intron			Q05682	CALD1_HUMAN	caldesmon 1	369	3 X 14 AA tandem repeats of E-E-E-K-R-A- A-E-E-R-Q-R-I-K.				cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						gggcagcagaggagaggCAAAG	0.505																																						ENST00000361675.2																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						c.(1102-1107)gaagagfs		caldesmon 1																																				SO:0001589	frameshift_variant	800				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	g.chr7:134618624_134618625insC	M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	Exception_encountered	7.37:g.134618624_134618625insC	ENSP00000354826:p.Glu369fs					CALD1_ENST00000417172.1_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000424922.1_Intron	p.EE368fs			Q05682	CALD1_HUMAN			5	1333_1334	+			368			3 X 14 AA tandem repeats of E-E-E-K-R-A- A-E-E-R-Q-R-I-K.		A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Frame_Shift_Ins	INS	ENST00000361675.2	37	c.1104_1105insC	CCDS5835.1																																																																																				0.505	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138		2	4						2	4	---	---	---	---	C	134618625	-	C	134618624	7	5	221	1	0	1	1	0	0	0	0	0	2581	991	35	0	1171	0	CALD1	7	134618624	Frame_Shift_Ins	INS	-	TCGA-EL-A3H1-01A-11D-A21A-08		134618624	24520039	15	4648											
BRF2	55290	broad.mit.edu	37	chr8	37704689	37704689	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaaggtctctcactcgccgGagacctaggaaaaacccacg	9	14	2	1			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr8:37704689G>A	ENST00000220659.6	-	3	339	c.219C>T	c.(217-219)ctC>ctT	p.L73L	BRF2_ENST00000521170.1_3'UTR|BRF2_ENST00000520601.1_Silent_p.L73L	NM_018310.3	NP_060780.2	P47974	TISD_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	0					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			TCACTCGCCGGAGACCTAGGA	0.498																																						ENST00000220659.6																			0				breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12						c.(217-219)ctC>ctT		BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit							62	62	62					8																	37704689		2203	4300	6503	SO:0001819	synonymous_variant	55290				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding	g.chr8:37704689G>A	AF298153	CCDS6098.1	8p11.23	2013-05-29	2013-05-29		ENSG00000104221	ENSG00000104221			17298	protein-coding gene	gene with protein product		607013	"BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like"			11483580, 11564744	Standard	NM_018310		Approved	FLJ11052, BRFU, TFIIIB50	uc003xkk.3	Q9HAW0	OTTHUMG00000164025	ENST00000220659.6:c.219C>T	8.37:g.37704689G>A						BRF2_ENST00000521170.1_3'UTR|BRF2_ENST00000520601.1_Silent_p.L73L	p.L73L	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)		3	339	-		Lung NSC(58;0.118)|all_lung(54;0.195)	73					Q53TB4|Q9BSJ3	Silent	SNP	ENST00000220659.6	37	c.219C>T	CCDS6098.1																																																																																				0.498	BRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376811.2	NM_018310		18	25	0	0	0	1	0	18	25					A	37704689	G	A	37704689	2	1	221	1	0	0	0	0	0	0	0	1	1511	1161	41	2		2	BRF2	8	37704689	Silent	SNP	G	TCGA-EL-A3H1-01A-11D-A21A-08		37704689	108659333	16	4649											
TG	7038	broad.mit.edu	37	chr8	133978928	133978929	+	Frame_Shift_Ins	INS	-	-	A													tcagcccagcaggcaaacctINSatggtgcctttctcgtaagt							TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr8:133978928_133978929insA	ENST00000220616.4	+	30	5712_5713	c.5672_5673insA	c.(5671-5676)ctatggfs	p.W1892fs	TG_ENST00000519543.1_Frame_Shift_Ins_p.W46fs|TG_ENST00000542445.1_Frame_Shift_Ins_p.W262fs|TG_ENST00000377869.1_Frame_Shift_Ins_p.W1835fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1892					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAGGCAAACCTATGGTGCCTTT	0.48																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(5671-5673)ctgfs		thyroglobulin																																				SO:0001589	frameshift_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133978928_133978929insA	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.5673dupA	8.37:g.133978929_133978929dupA	ENSP00000220616:p.Trp1892fs					TG_ENST00000542445.1_Frame_Shift_Ins_p.L261fs|TG_ENST00000377869.1_Frame_Shift_Ins_p.L1834fs|TG_ENST00000519543.1_Frame_Shift_Ins_p.L45fs	p.L1891fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	30	5712_5713	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1891					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Frame_Shift_Ins	INS	ENST00000220616.4	37	c.5672_5673insA	CCDS34944.1																																																																																				0.48	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		26	34						26	34	---	---	---	---	A	133978929	-	A	133978928	7	5	221	1	0	1	1	0	0	0	0	0	15810	1522	53	0	5790	0	TG	8	133978928	Frame_Shift_Ins	INS	-	TCGA-EL-A3H1-01A-11D-A21A-08	96274239	133978928	12385094	17	4650											
GPR172A	79581	broad.mit.edu	37	chr8	145583069	145583069	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagctacctgtggtggtcaAagagcttccagagggtgagt	16	7	1	3			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr8:145583069A>G	ENST00000532887.1	+	2	699	c.116A>G	c.(115-117)aAa>aGa	p.K39R	FBXL6_ENST00000455319.2_5'Flank|FBXL6_ENST00000526524.1_5'Flank|SLC52A2_ENST00000329994.2_Missense_Mutation_p.K39R|SLC52A2_ENST00000530047.1_Missense_Mutation_p.K39R|SLC52A2_ENST00000526752.1_Missense_Mutation_p.K39R|SLC52A2_ENST00000540505.1_Intron|SLC52A2_ENST00000402965.1_Missense_Mutation_p.K39R|SLC52A2_ENST00000526891.1_Intron|FBXL6_ENST00000331890.5_5'Flank|SLC52A2_ENST00000527078.1_Missense_Mutation_p.K39R			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	39					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	GTGGTGGTCAAAGAGCTTCCA	0.647																																						ENST00000532887.1																			0											c.(115-117)aAa>aGa		solute carrier family 52 (riboflavin transporter), member 2							98	89	92					8																	145583069		2203	4300	6503	SO:0001583	missense	79581					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr8:145583069A>G	AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"Solute carriers"	30224	protein-coding gene	gene with protein product		607882	"G protein-coupled receptor 172A"	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.116A>G	8.37:g.145583069A>G	ENSP00000436768:p.Lys39Arg					SLC52A2_ENST00000530047.1_Missense_Mutation_p.K39R|SLC52A2_ENST00000540505.1_Intron|SLC52A2_ENST00000402965.1_Missense_Mutation_p.K39R|SLC52A2_ENST00000329994.2_Missense_Mutation_p.K39R|SLC52A2_ENST00000527078.1_Missense_Mutation_p.K39R|SLC52A2_ENST00000526891.1_Intron|SLC52A2_ENST00000526752.1_Missense_Mutation_p.K39R	p.K39R			Q9HAB3	RFT3_HUMAN			2	699	+			39					A8K6B6|D3DWL8|G1UCY1|Q86UT1	Missense_Mutation	SNP	ENST00000532887.1	37	c.116A>G	CCDS6423.1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.008546	0.54361	.	.	ENSG00000185803	ENST00000524541;ENST00000530047;ENST00000527078;ENST00000526338;ENST00000402965;ENST00000534725;ENST00000532887;ENST00000329994;ENST00000526752	T;T;T;T;T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8	4.12	1.72	0.24424	.	0.177750	0.48767	D	0.000176	T	0.79639	0.4480	M	0.72118	2.19	0.52501	D	0.99995	D	0.69078	0.997	D	0.75020	0.985	T	0.74509	-0.3642	10	0.19147	T	0.46	.	6.2933	0.21071	0.7763:0.0:0.2237:0.0	.	39	Q9HAB3	RFT3_HUMAN	R	39	ENSP00000434239:K39R;ENSP00000435820:K39R;ENSP00000434728:K39R;ENSP00000433583:K39R;ENSP00000385961:K39R;ENSP00000431965:K39R;ENSP00000436768:K39R;ENSP00000333638:K39R;ENSP00000433796:K39R	ENSP00000333638:K39R	K	+	2	0	GPR172A	145553877	0.709000	0.27886	0.942000	0.38095	0.876000	0.50452	2.512000	0.45485	0.459000	0.27016	0.334000	0.21626	AAA		0.647	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1	NM_024531		4	23	0	0	0	1	0	4	23					G	145583069	A	G	145583069	3	3	221	1	0	0	0	0	1	0	0	0	6669	14	1	3	118	3	GPR172A	8	145583069	Missense_Mutation	SNP	A	TCGA-EL-A3H1-01A-11D-A21A-08	11604141	145583069	780953	18	4651											
SH2D3C	10044	broad.mit.edu	37	chr9	130506914	130506914	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgccagcagctccttgacctTgcgcagaaggcccacctcca	9	17	0	2			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr9:130506914T>A	ENST00000314830.8	-	7	1842	c.1729A>T	c.(1729-1731)Aag>Tag	p.K577*	SH2D3C_ENST00000373277.4_Nonsense_Mutation_p.K420*|SH2D3C_ENST00000420366.1_Nonsense_Mutation_p.K419*|SH2D3C_ENST00000373274.3_Nonsense_Mutation_p.K417*|SH2D3C_ENST00000429553.1_Nonsense_Mutation_p.K223*|SH2D3C_ENST00000373276.3_Nonsense_Mutation_p.K509*|SH2D3C_ENST00000471939.1_5'UTR	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	577					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCCTTGACCTTGCGCAGAAGG	0.622																																						ENST00000314830.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1729-1731)Aag>Tag		SH2 domain containing 3C							82	82	82					9																	130506914		2203	4300	6503	SO:0001587	stop_gained	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130506914T>A	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"SH2 domain containing"	16884	protein-coding gene	gene with protein product		604722	"SH2 domain-containing 3C"			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.1729A>T	9.37:g.130506914T>A	ENSP00000317817:p.Lys577*					SH2D3C_ENST00000429553.1_Nonsense_Mutation_p.K223*|SH2D3C_ENST00000373274.3_Nonsense_Mutation_p.K417*|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000373276.3_Nonsense_Mutation_p.K509*|SH2D3C_ENST00000373277.4_Nonsense_Mutation_p.K420*|SH2D3C_ENST00000420366.1_Nonsense_Mutation_p.K419*	p.K577*	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN			7	1842	-			577					A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Nonsense_Mutation	SNP	ENST00000314830.8	37	c.1729A>T	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	T	38	6.903284	0.97924	.	.	ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830	.	.	.	5.42	4.21	0.49690	.	0.132658	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5666	11.3751	0.49724	0.0:0.0:0.1514:0.8486	.	.	.	.	X	420;419;509;417;223;577	.	ENSP00000317817:K577X	K	-	1	0	SH2D3C	129546735	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.835000	0.55805	2.053000	0.61076	0.459000	0.35465	AAG		0.622	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		18	115	0	0	0	1	0	18	115					A	130506914	T	A	130506914	4	1	221	1	0	0	0	0	0	1	0	0	14234	1821	63	5	877	5	SH2D3C	9	130506914	Nonsense_Mutation	SNP	T	TCGA-EL-A3H1-01A-11D-A21A-08		130506914	10706517	19	4652											
CHD4	1108	broad.mit.edu	37	chr12	6691343	6691343	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taacaccaattctagtaaggAcatgctggcgagacaggcct	10	10	1	1			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr12:6691343A>C	ENST00000357008.2	-	30	4638	c.4475T>G	c.(4474-4476)gTc>gGc	p.V1492G	CHD4_ENST00000309577.6_Missense_Mutation_p.V1520G|RP5-940J5.6_ENST00000501075.2_RNA|SCARNA11_ENST00000516089.1_RNA|CHD4_ENST00000544040.1_Missense_Mutation_p.V1485G|CHD4_ENST00000544484.1_Missense_Mutation_p.V1517G|CHD4_ENST00000540960.1_5'UTR	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1492					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						TCTAGTAAGGACATGCTGGCG	0.542																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(4558-4560)gTc>gGc		chromodomain helicase DNA binding protein 4							88	77	81					12																	6691343		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.chr12:6691343A>C	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.4475T>G	12.37:g.6691343A>C	ENSP00000349508:p.Val1492Gly					CHD4_ENST00000544040.1_Missense_Mutation_p.V1485G|CHD4_ENST00000544484.1_Missense_Mutation_p.V1517G|CHD4_ENST00000357008.2_Missense_Mutation_p.V1492G|CHD4_ENST00000540960.1_5'UTR|RP5-940J5.6_ENST00000501075.2_RNA	p.V1520G			Q14839	CHD4_HUMAN			29	4722	-			1492					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.4559T>G	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	A	18.98	3.737165	0.69304	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.95069	-3.6;-3.45;-3.6;-3.45	5.76	5.76	0.90799	Domain of unknown function DUF1086 (1);	0.000000	0.85682	D	0.000000	D	0.97526	0.9190	M	0.86953	2.85	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	0.98321	1.0528	10	0.87932	D	0	-10.0069	16.087	0.81065	1.0:0.0:0.0:0.0	.	1520;1492;1485	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	G	1517;1485;1520;1492;1466	ENSP00000440392:V1517G;ENSP00000440542:V1485G;ENSP00000312419:V1520G;ENSP00000349508:V1492G	ENSP00000312419:V1520G	V	-	2	0	CHD4	6561604	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.930000	0.92872	2.202000	0.70862	0.533000	0.62120	GTC		0.542	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		4	53	0	0	0	1	0	4	53					C	6691343	A	C	6691343	3	2	221	1	0	0	0	0	1	0	0	0	3327	275	10	5	1307	5	CHD4	12	6691343	Missense_Mutation	SNP	A	TCGA-EL-A3H1-01A-11D-A21A-08		6691343	127160552	20	4653											
ZNF410	57862	broad.mit.edu	37	chr14	74390223	74390223	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	taactgcagtaaatccacaaGaggtaaagtggtctcttgcc	9	9	1	1			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr14:74390223G>C	ENST00000555044.1	+	11	1590	c.1396G>C	c.(1396-1398)Gag>Cag	p.E466Q	RP5-1021I20.4_ENST00000556551.2_3'UTR|ZNF410_ENST00000442160.3_Missense_Mutation_p.E483Q|ZNF410_ENST00000540593.1_Missense_Mutation_p.E393Q|RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000334521.4_Missense_Mutation_p.E413Q|ZNF410_ENST00000324593.6_Missense_Mutation_p.E419Q|RP5-1021I20.5_ENST00000555916.1_RNA	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	466					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(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		AAATCCACAAGAGGTAAAGTG	0.443																																						ENST00000555044.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(1396-1398)Gag>Cag		zinc finger protein 410							190	170	177					14																	74390223		2203	4300	6503	SO:0001583	missense	57862				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:74390223G>C	U90919	CCDS9821.1, CCDS55929.1, CCDS55930.1, CCDS55931.1	14q24.3	2013-01-08				ENSG00000119725		"Zinc fingers, C2H2-type"	20144	protein-coding gene	gene with protein product						12370286	Standard	NM_001242924		Approved	APA1, APA-1	uc010arz.2	Q86VK4		ENST00000555044.1:c.1396G>C	14.37:g.74390223G>C	ENSP00000451763:p.Glu466Gln					ZNF410_ENST00000334521.4_Missense_Mutation_p.E413Q|ZNF410_ENST00000540593.1_Missense_Mutation_p.E393Q|RP5-1021I20.5_ENST00000555916.1_RNA|ZNF410_ENST00000442160.3_Missense_Mutation_p.E483Q|ZNF410_ENST00000324593.6_Missense_Mutation_p.E419Q	p.E466Q	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00369)	11	1590	+			466					B4DDV5|B4DR78|O00153|Q9BQ19	Missense_Mutation	SNP	ENST00000555044.1	37	c.1396G>C	CCDS9821.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.3|20.3	3.966065|3.966065	0.74131|0.74131	.|.	.|.	ENSG00000119725|ENSG00000119725	ENST00000540593;ENST00000324593;ENST00000458102;ENST00000442160;ENST00000555044;ENST00000334521;ENST00000556179|ENST00000557214	T;T;T;T;T|.	0.13196|.	3.1;3.19;2.61;3.17;3.12|.	5.82|5.82	4.93|4.93	0.64822|0.64822	.|.	0.000000|.	0.43747|.	D|.	0.000529|.	T|T	0.35998|0.35998	0.0951|0.0951	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D;B;D;D;D;P|.	0.57899|.	0.981;0.01;0.981;0.968;0.981;0.947|.	D;B;D;D;D;D|.	0.70487|.	0.932;0.005;0.954;0.969;0.954;0.932|.	T|T	0.21245|0.21245	-1.0251|-1.0251	10|5	0.12766|.	T|.	0.61|.	.|.	11.9929|11.9929	0.53186|0.53186	0.081:0.0:0.919:0.0|0.081:0.0:0.919:0.0	.|.	466;393;483;419;455;466|.	B2RCP6;B4DR78;B4DDV5;Q86VK4-3;B4DPE9;Q86VK4|.	.;.;.;.;.;ZN410_HUMAN|.	Q|T	393;419;455;483;466;413;109|126	ENSP00000442228:E393Q;ENSP00000323293:E419Q;ENSP00000407130:E483Q;ENSP00000451763:E466Q;ENSP00000334170:E413Q|.	ENSP00000323293:E419Q|.	E|R	+|+	1|2	0|0	ZNF410|ZNF410	73459976|73459976	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	5.239000|5.239000	0.65371|0.65371	1.473000|1.473000	0.48159|0.48159	0.591000|0.591000	0.81541|0.81541	GAG|AGA		0.443	ZNF410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412597.1	NM_021188		40	54	0	0	0	1	0	40	54					C	74390223	G	C	74390223	3	2	221	1	0	0	0	0	1	0	0	0	17887	943	33	4	1434	4	ZNF410	14	74390223	Missense_Mutation	SNP	G	TCGA-EL-A3H1-01A-11D-A21A-08		74390223	32959317	21	4654											
FBN1	2200	broad.mit.edu	37	chr15	48788300	48788300	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acaaaaatatggtttaccttCacatgtttttagatcaggtt	6	6	2	1			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr15:48788300C>T	ENST00000316623.5	-	20	2871	c.2416G>A	c.(2416-2418)Gaa>Aaa	p.E806K		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	806	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGTTTACCTTCACATGTTTTT	0.358																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(2416-2418)Gaa>Aaa		fibrillin 1							128	132	131					15																	48788300		2197	4296	6493	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48788300C>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.2416G>A	15.37:g.48788300C>T	ENSP00000325527:p.Glu806Lys						p.E806K	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	20	2871	-		all_lung(180;0.00279)	806			EGF-like 12; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.2416G>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011188	0.93346	.	.	ENSG00000166147	ENST00000316623	D	0.87491	-2.26	6.06	6.06	0.98353	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.094270	0.64402	D	0.000001	D	0.84570	0.5501	L	0.45422	1.42	0.80722	D	1	P	0.40970	0.734	B	0.40165	0.321	T	0.82018	-0.0665	10	0.27082	T	0.32	.	19.2036	0.93720	0.0:1.0:0.0:0.0	.	806	P35555	FBN1_HUMAN	K	806	ENSP00000325527:E806K	ENSP00000325527:E806K	E	-	1	0	FBN1	46575592	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.079000	0.71291	2.880000	0.98712	0.650000	0.86243	GAA		0.358	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			12	13	0	0	0	1	0	12	13					T	48788300	C	T	48788300	3	4	221	1	0	0	0	0	1	0	0	0	5702	835	29	2	6387	2	FBN1	15	48788300	Missense_Mutation	SNP	C	TCGA-EL-A3H1-01A-11D-A21A-08		48788300	53743092	22	4655											
STRA6	64220	broad.mit.edu	37	chr15	74476216	74476216	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccaaggcagataaaggctgtCtggtaggcactgaagctcat	12	9	2	2			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr15:74476216C>G	ENST00000323940.5	-	14	1526	c.1281G>C	c.(1279-1281)caG>caC	p.Q427H	STRA6_ENST00000416286.3_Missense_Mutation_p.Q419H|STRA6_ENST00000449139.2_Missense_Mutation_p.Q427H|STRA6_ENST00000423167.2_Missense_Mutation_p.Q418H|STRA6_ENST00000535552.1_Missense_Mutation_p.Q464H|STRA6_ENST00000563965.1_Missense_Mutation_p.Q466H|STRA6_ENST00000574278.1_Missense_Mutation_p.Q442H|STRA6_ENST00000395105.4_Missense_Mutation_p.Q427H|STRA6_ENST00000574439.1_5'UTR	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	427					adrenal gland development (GO:0030325)|alveolar primary septum development (GO:0061143)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|cognition (GO:0050890)|developmental growth (GO:0048589)|diaphragm development (GO:0060539)|digestive tract morphogenesis (GO:0048546)|ductus arteriosus closure (GO:0097070)|ear development (GO:0043583)|embryonic camera-type eye formation (GO:0060900)|embryonic digestive tract development (GO:0048566)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|feeding behavior (GO:0007631)|female genitalia development (GO:0030540)|head development (GO:0060322)|head morphogenesis (GO:0060323)|heart development (GO:0007507)|kidney development (GO:0001822)|learning (GO:0007612)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung vasculature development (GO:0060426)|neuromuscular process (GO:0050905)|nose morphogenesis (GO:0043585)|paramesonephric duct development (GO:0061205)|phototransduction, visible light (GO:0007603)|positive regulation of behavior (GO:0048520)|positive regulation of JAK-STAT cascade (GO:0046427)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol transport (GO:0034633)|smooth muscle tissue development (GO:0048745)|uterus morphogenesis (GO:0061038)|ventricular septum development (GO:0003281)|vitamin A import (GO:0071939)|vocal learning (GO:0042297)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	receptor activity (GO:0004872)|vitamin transporter activity (GO:0051183)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						TAAAGGCTGTCTGGTAGGCAC	0.612																																						ENST00000323940.5																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						c.(1279-1281)caG>caC		stimulated by retinoic acid 6							124	108	114					15																	74476216		2198	4297	6495	SO:0001583	missense	64220				adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity	g.chr15:74476216C>G	AF352728	CCDS10261.1, CCDS45301.1, CCDS45302.1, CCDS55973.1, CCDS55974.1, CCDS58387.1	15q24.1	2014-07-14	2012-12-07		ENSG00000137868	ENSG00000137868			30650	protein-coding gene	gene with protein product	"retinol binding protein 4 receptor"	610745	"stimulated by retinoic acid gene 6 homolog (mouse)", "stimulated by retinoic acid 6 homolog (mouse)"			17255476, 17273977	Standard	NM_022369		Approved	FLJ12541	uc002axj.3	Q9BX79	OTTHUMG00000138998	ENST00000323940.5:c.1281G>C	15.37:g.74476216C>G	ENSP00000326085:p.Gln427His					STRA6_ENST00000563965.1_Missense_Mutation_p.Q466H|STRA6_ENST00000574278.1_Missense_Mutation_p.Q442H|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000535552.1_Missense_Mutation_p.Q464H|STRA6_ENST00000449139.2_Missense_Mutation_p.Q427H|STRA6_ENST00000423167.2_Missense_Mutation_p.Q418H|STRA6_ENST00000395105.4_Missense_Mutation_p.Q427H|STRA6_ENST00000416286.3_Missense_Mutation_p.Q419H	p.Q427H	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN			14	1526	-			427					A8K7F1|B7Z5M9|B7Z862|D3DW54|F5GYI8|I3L1G8|Q6PJF8|Q71RB9|Q7L9G1|Q7Z3U9|Q8TB21|Q9BX78|Q9H9U8	Missense_Mutation	SNP	ENST00000323940.5	37	c.1281G>C	CCDS10261.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.201635	0.38905	.	.	ENSG00000137868	ENST00000395105;ENST00000323940;ENST00000416286;ENST00000545137;ENST00000449139;ENST00000423167;ENST00000535552;ENST00000536129	D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43	4.55	1.47	0.22746	.	0.310849	0.34959	N	0.003544	D	0.83968	0.5369	L	0.46157	1.445	0.80722	D	1	B;B;B;B;B;B	0.33583	0.418;0.418;0.418;0.418;0.418;0.082	B;B;B;B;B;B	0.35240	0.198;0.198;0.198;0.184;0.198;0.058	T	0.80286	-0.1446	10	0.59425	D	0.04	-11.4675	9.9809	0.41813	0.0:0.6637:0.2601:0.0762	.	464;465;418;427;466;236	F5GYI8;B7Z5G7;Q9BX79-3;Q9BX79;Q9BX79-4;B3KRT6	.;.;.;STRA6_HUMAN;.;.	H	427;427;359;236;466;418;464;317	ENSP00000378537:Q427H;ENSP00000326085:Q427H;ENSP00000413012:Q418H;ENSP00000440238:Q464H	ENSP00000326085:Q427H	Q	-	3	2	STRA6	72263269	1.000000	0.71417	0.995000	0.50966	0.900000	0.52787	0.780000	0.26760	0.434000	0.26340	0.563000	0.77884	CAG		0.612	STRA6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272891.1			84	107	0	0	0	1	0	84	107					G	74476216	C	G	74476216	3	3	221	1	0	0	0	0	1	0	0	0	15321	912	32	4	746	4	STRA6	15	74476216	Missense_Mutation	SNP	C	TCGA-EL-A3H1-01A-11D-A21A-08	25687916	74476216	28055176	23	4656											
ACSM5	54988	broad.mit.edu	37	chr16	20430680	20430680	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggatgccatcagtgccgaAtgcccctccctccagaccaa	9	16	1	1			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr16:20430680A>C	ENST00000331849.4	+	4	693	c.546A>C	c.(544-546)gaA>gaC	p.E182D	ACSM5_ENST00000575584.1_Missense_Mutation_p.E182D	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	182			E -> K (in dbSNP:rs7192210).		fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TCAGTGCCGAATGCCCCTCCC	0.587																																						ENST00000331849.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						c.(544-546)gaA>gaC		acyl-CoA synthetase medium-chain family member 5							72	61	65					16																	20430680		2203	4300	6503	SO:0001583	missense	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20430680A>C		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"Acyl-CoA synthetase family"	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.546A>C	16.37:g.20430680A>C	ENSP00000327916:p.Glu182Asp					ACSM5_ENST00000575584.1_Missense_Mutation_p.E182D	p.E182D	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN			4	693	+			182		E -> K (in dbSNP:rs7192210).			Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.546A>C	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	A	0.052	-1.247856	0.01469	.	.	ENSG00000183549	ENST00000331849	T	0.39406	1.08	4.65	1.52	0.23074	AMP-dependent synthetase/ligase (1);	0.374166	0.25759	N	0.028498	T	0.23370	0.0565	N	0.21324	0.655	0.29621	N	0.846213	B	0.02656	0.0	B	0.01281	0.0	T	0.20806	-1.0264	10	0.14656	T	0.56	-16.6401	8.3887	0.32516	0.3751:0.2788:0.3461:0.0	.	182	Q6NUN0	ACSM5_HUMAN	D	182	ENSP00000327916:E182D	ENSP00000327916:E182D	E	+	3	2	ACSM5	20338181	0.008000	0.16893	0.990000	0.47175	0.127000	0.20565	-1.137000	0.03219	0.256000	0.21614	-0.893000	0.02921	GAA		0.587	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		25	37	0	0	0	1	0	25	37					C	20430680	A	C	20430680	3	2	221	1	0	0	0	0	1	0	0	0	187	98	4	5	556	5	ACSM5	16	20430680	Missense_Mutation	SNP	A	TCGA-EL-A3H1-01A-11D-A21A-08		20430680	69924073	24	4657											
CETP	1071	broad.mit.edu	37	chr16	57015114	57015114	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcctattctaagaaaaagctCttcttaagcctcttggattt	5	9	4	1			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr16:57015114C>T	ENST00000566128.1	+	12	1263	c.996C>T	c.(994-996)ctC>ctT	p.L332L	CETP_ENST00000200676.3_Silent_p.L397L|CETP_ENST00000379780.2_Silent_p.L337L					cholesteryl ester transfer protein, plasma											NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						AGAAAAAGCTCTTCTTAAGCC	0.547																																						ENST00000200676.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						c.(1189-1191)ctC>ctT		cholesteryl ester transfer protein, plasma							79	85	83					16																	57015114		2198	4300	6498	SO:0001819	synonymous_variant	1071				cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding	g.chr16:57015114C>T	M30185	CCDS10772.1, CCDS67032.1	16q13	2012-10-02			ENSG00000087237	ENSG00000087237		"BPI fold containing"	1869	protein-coding gene	gene with protein product	"BPI fold containing family F"	118470				3600759, 2334701	Standard	NM_000078		Approved	BPIFF	uc002eki.2	P11597	OTTHUMG00000133279	ENST00000566128.1:c.996C>T	16.37:g.57015114C>T						CETP_ENST00000379780.2_Silent_p.L337L|CETP_ENST00000566128.1_Silent_p.L332L	p.L397L	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN			12	1321	+			397						Silent	SNP	ENST00000566128.1	37	c.1191C>T																																																																																					0.547	CETP-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432305.1	NM_000078		13	28	0	0	0	1	0	13	28					T	57015114	C	T	57015114	2	4	221	1	0	0	0	0	0	0	0	1	3277	900	32	2		2	CETP	16	57015114	Silent	SNP	C	TCGA-EL-A3H1-01A-11D-A21A-08	36584434	57015114	33339639	25	4658											
HYDIN	54768	broad.mit.edu	37	chr16	71218818	71218818	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagttcgatgatctgtggtcGgcacatcaaacgtgtttttg	12	7	2	1			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr16:71218818G>A	ENST00000393567.2	-	3	361	c.211C>T	c.(211-213)Cga>Tga	p.R71*	HYDIN_ENST00000541601.1_Nonsense_Mutation_p.R88*|HYDIN_ENST00000538248.1_Nonsense_Mutation_p.R98*|HYDIN_ENST00000448691.1_Nonsense_Mutation_p.R71*|HYDIN_ENST00000288168.10_Nonsense_Mutation_p.R88*|HYDIN_ENST00000393550.2_Nonsense_Mutation_p.R71*|HYDIN_ENST00000321489.5_Nonsense_Mutation_p.R71*|HYDIN_ENST00000448089.2_Nonsense_Mutation_p.R71*	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	71					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)				ATCTGTGGTCGGCACATCAAA	0.463																																						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.(211-213)Cga>Tga		HYDIN, axonemal central pair apparatus protein							168	148	155					16																	71218818		2198	4299	6497	SO:0001587	stop_gained	54768							g.chr16:71218818G>A	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.211C>T	16.37:g.71218818G>A	ENSP00000377197:p.Arg71*					HYDIN_ENST00000541601.1_Nonsense_Mutation_p.R88*|HYDIN_ENST00000538248.1_Nonsense_Mutation_p.R98*|HYDIN_ENST00000448089.2_Nonsense_Mutation_p.R71*|HYDIN_ENST00000393550.2_Nonsense_Mutation_p.R71*|HYDIN_ENST00000321489.5_Nonsense_Mutation_p.R71*|HYDIN_ENST00000448691.1_Nonsense_Mutation_p.R71*|HYDIN_ENST00000288168.10_Nonsense_Mutation_p.R88*	p.R71*	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			3	361	-		Ovarian(137;0.0654)	71					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Nonsense_Mutation	SNP	ENST00000393567.2	37	c.211C>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	36	5.622778	0.96660	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550	.	.	.	5.86	3.85	0.44370	.	0.000000	0.27554	U	0.018858	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	15.0754	0.72074	0.0:0.0:0.7403:0.2597	.	.	.	.	X	71;71;71;71;71;98;88;88;71	.	ENSP00000288168:R88X	R	-	1	2	HYDIN	69776319	0.981000	0.34729	0.995000	0.50966	0.852000	0.48524	3.980000	0.56895	0.776000	0.33473	0.655000	0.94253	CGA		0.463	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			3	73	0	0	0	1	0	3	73					A	71218818	G	A	71218818	4	1	221	1	0	0	0	0	0	1	0	0	7467	1124	39	1	15499	1	HYDIN	16	71218818	Nonsense_Mutation	SNP	G	TCGA-EL-A3H1-01A-11D-A21A-08	14203704	71218818	19135935	26	4659											
DHX33	56919	broad.mit.edu	37	chr17	5353712	5353712	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtacagtggaatttgggGgacatgaggatggtctgcaa	15	5	2	1			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr17:5353712G>A	ENST00000225296.3	-	10	1739	c.1539C>T	c.(1537-1539)tcC>tcT	p.S513S	DHX33_ENST00000433302.3_Silent_p.S289S	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	513					positive regulation of transcription from RNA polymerase I promoter (GO:0045943)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|rDNA binding (GO:0000182)			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GGAATTTGGGGGACATGAGGA	0.473																																						ENST00000225296.3																			0				breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1537-1539)tcC>tcT		DEAH (Asp-Glu-Ala-His) box polypeptide 33							90	94	92					17																	5353712		2203	4300	6503	SO:0001819	synonymous_variant	56919					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr17:5353712G>A	AL359945	CCDS11072.1	17p13	2003-06-13	2003-06-13	2003-06-13	ENSG00000005100	ENSG00000005100		"DEAH-boxes"	16718	protein-coding gene	gene with protein product		614405	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33"	DDX33			Standard	NM_020162		Approved	FLJ21972, DKFZp762F2011	uc002gca.3	Q9H6R0	OTTHUMG00000102041	ENST00000225296.3:c.1539C>T	17.37:g.5353712G>A						DHX33_ENST00000433302.3_Silent_p.S289S	p.S513S	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN			10	1739	-			513					B4DHF9|Q4G149|Q5CZ73|Q9H5M9	Silent	SNP	ENST00000225296.3	37	c.1539C>T	CCDS11072.1																																																																																				0.473	DHX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219826.2	NM_020162		3	94	0	0	0	1	0	3	94					A	5353712	G	A	5353712	2	1	221	1	0	0	0	0	0	0	0	1	4506	1219	43	2		2	DHX33	17	5353712	Silent	SNP	G	TCGA-EL-A3H1-01A-11D-A21A-08		5353712	75841498	27	4660											
CHD3	1107	broad.mit.edu	37	chr17	7800502	7800502	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tccggcgaggatgatgggaaGagcgacaagcgtaaagtgaa	16	6	0	3			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr17:7800502G>C	ENST00000330494.7	+	11	1959	c.1809G>C	c.(1807-1809)aaG>aaC	p.K603N	CHD3_ENST00000358181.4_Missense_Mutation_p.K603N|CHD3_ENST00000380358.4_Missense_Mutation_p.K662N	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	603					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)				ATGATGGGAAGAGCGACAAGC	0.512																																						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.(1984-1986)aaG>aaC		chromodomain helicase DNA binding protein 3							135	109	118					17																	7800502		2203	4300	6503	SO:0001583	missense	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.chr17:7800502G>C	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.1809G>C	17.37:g.7800502G>C	ENSP00000332628:p.Lys603Asn					CHD3_ENST00000358181.4_Missense_Mutation_p.K603N|CHD3_ENST00000330494.7_Missense_Mutation_p.K603N	p.K662N	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			11	1987	+		Prostate(122;0.202)	603			Chromo 2.		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.1986G>C	CCDS32554.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.11|15.11	2.736683|2.736683	0.49045|0.49045	.|.	.|.	ENSG00000170004|ENSG00000170004	ENST00000452447|ENST00000380358;ENST00000358181;ENST00000330494	.|D;D;D	.|0.90676	.|-2.71;-2.64;-2.64	5.67|5.67	4.69|4.69	0.59074|0.59074	.|.	.|0.000000	.|0.47093	.|D	.|0.000243	D|D	0.91925|0.91925	0.7443|0.7443	L|L	0.52759|0.52759	1.655|1.655	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D	.|0.59767	.|0.98;0.965;0.986	.|P;P;P	.|0.57152	.|0.814;0.656;0.738	D|D	0.91745|0.91745	0.5407|0.5407	5|10	.|0.51188	.|T	.|0.08	-31.3428|-31.3428	14.9004|14.9004	0.70675|0.70675	0.0699:0.0:0.9301:0.0|0.0699:0.0:0.9301:0.0	.|.	.|603;603;662	.|Q12873-2;Q12873;E9PG89	.|.;CHD3_HUMAN;.	Q|N	474|662;603;603	.|ENSP00000369716:K662N;ENSP00000350907:K603N;ENSP00000332628:K603N	.|ENSP00000332628:K603N	E|K	+|+	1|3	0|2	CHD3|CHD3	7741227|7741227	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	2.877000|2.877000	0.48506|0.48506	2.681000|2.681000	0.91329|0.91329	0.561000|0.561000	0.74099|0.74099	GAG|AAG		0.512	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		36	53	0	0	0	1	0	36	53					C	7800502	G	C	7800502	3	2	221	1	0	0	0	0	1	0	0	0	3326	933	33	4	2132	4	CHD3	17	7800502	Missense_Mutation	SNP	G	TCGA-EL-A3H1-01A-11D-A21A-08	2446790	7800502	73394708	28	4661											
PSMC3IP	29893	broad.mit.edu	37	chr17	40725136	40725136	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccacttacaaagaactgctTcttgctcttggggtatcctt	7	11	2	1	rs374511642		TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr17:40725136T>G	ENST00000393795.3	-	7	694	c.586A>C	c.(586-588)Aag>Cag	p.K196Q	MLX_ENST00000435881.2_3'UTR|PSMC3IP_ENST00000590760.1_Missense_Mutation_p.K71Q|PSMC3IP_ENST00000587209.1_Missense_Mutation_p.K133Q|MLX_ENST00000246912.4_3'UTR|PSMC3IP_ENST00000253789.5_Missense_Mutation_p.K184Q|MLX_ENST00000346833.4_3'UTR	NM_001256015.1|NM_001256016.1|NM_016556.3	NP_001242944.1|NP_001242945.1|NP_057640.1	Q9P2W1	HOP2_HUMAN	PSMC3 interacting protein	196					DNA recombination (GO:0006310)|meiotic nuclear division (GO:0007126)|regulation of RNA biosynthetic process (GO:2001141)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(2)	7		all_cancers(22;0.00426)|Breast(137;0.00116)|all_epithelial(22;0.0395)		BRCA - Breast invasive adenocarcinoma(366;0.13)		AAGAACTGCTTCTTGCTCTTG	0.488																																						ENST00000393795.3																			0				endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(2)	7						c.(586-588)Aag>Cag		PSMC3 interacting protein		T	GLN/LYS,GLN/LYS,,,	0,4406		0,0,2203	147	145	146		550,586,,,	5.9	1.0	17		146	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,utr-3,utr-3,utr-3	MLX,PSMC3IP	NM_013290.5,NM_016556.2,NM_170607.2,NM_198204.1,NM_198205.1	53,53,,,	0,1,6502	GG,GT,TT		0.0116,0.0,0.0077	probably-damaging,probably-damaging,,,	184/206,196/218,,,	40725136	1,13005	2203	4300	6503	SO:0001583	missense	29893				DNA recombination|meiosis	nucleus	DNA binding	g.chr17:40725136T>G	AB030304, NM_013290, BC008792	CCDS11431.1, CCDS45688.1, CCDS59289.1	17q21.2	2012-04-10				ENSG00000131470		"Proteasome (prosome, macropain) subunits"	17928	protein-coding gene	gene with protein product	"TBP-1 interacting protein"	608665				7490091, 10806355, 11739747	Standard	NM_016556		Approved	TBPIP, GT198, HUMGT198A	uc002iai.3	Q9P2W1		ENST00000393795.3:c.586A>C	17.37:g.40725136T>G	ENSP00000377384:p.Lys196Gln					PSMC3IP_ENST00000587209.1_Missense_Mutation_p.K133Q|MLX_ENST00000435881.2_3'UTR|PSMC3IP_ENST00000253789.5_Missense_Mutation_p.K184Q|PSMC3IP_ENST00000590760.1_Missense_Mutation_p.K71Q|MLX_ENST00000246912.4_3'UTR|MLX_ENST00000346833.4_3'UTR	p.K196Q	NM_001256015.1|NM_001256016.1|NM_016556.3	NP_001242944.1|NP_001242945.1|NP_057640.1	Q9P2W1	HOP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	7	694	-		all_cancers(22;0.00426)|Breast(137;0.00116)|all_epithelial(22;0.0395)	196					C5ILB7|Q14458|Q8WXG2|Q96HA2	Missense_Mutation	SNP	ENST00000393795.3	37	c.586A>C	CCDS45688.1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.045276	0.93685	0.0	1.16E-4	ENSG00000131470	ENST00000393795;ENST00000253789	T;T	0.53857	0.69;0.6	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.73528	0.3598	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.981	T	0.73467	-0.3973	10	0.35671	T	0.21	-34.7113	16.3317	0.83023	0.0:0.0:0.0:1.0	.	184;196	Q9P2W1-2;Q9P2W1	.;HOP2_HUMAN	Q	196;184	ENSP00000377384:K196Q;ENSP00000253789:K184Q	ENSP00000253789:K184Q	K	-	1	0	PSMC3IP	37978662	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.797000	0.85911	2.264000	0.75181	0.533000	0.62120	AAG		0.488	PSMC3IP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450427.1	NM_013290		17	13	0	0	0	1	0	17	13					G	40725136	T	G	40725136	3	3	221	1	0	0	0	0	1	0	0	0	12688	1792	62	5	75	5	PSMC3IP	17	40725136	Missense_Mutation	SNP	T	TCGA-EL-A3H1-01A-11D-A21A-08	32924634	40725136	40470074	29	4662											
EXOC3L2	90332	broad.mit.edu	37	chr19	45731482	45731482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggctcccccagtgctcttCgtcctcctgcagcacacgga	9	18	1	0			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr19:45731482C>T	ENST00000252482.3	-	2	160	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	EXOC3L2_ENST00000413988.1_Missense_Mutation_p.E45K			Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	45					exocytosis (GO:0006887)	exocyst (GO:0000145)				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		CAGTGCTCTTCGTCCTCCTGC	0.642																																						ENST00000413988.1																			0				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(133-135)Gaa>Aaa		exocyst complex component 3-like 2							86	89	88					19																	45731482		2203	4300	6503	SO:0001583	missense	90332							g.chr19:45731482C>T	AK093466	CCDS12657.1	19q13.32	2011-07-07			ENSG00000130201	ENSG00000130201			30162	protein-coding gene	gene with protein product						21566143	Standard	NM_138568		Approved	FLJ36147, XTP7	uc002pay.1	Q2M3D2	OTTHUMG00000155018	ENST00000252482.3:c.133G>A	19.37:g.45731482C>T	ENSP00000252482:p.Glu45Lys					EXOC3L2_ENST00000252482.3_Missense_Mutation_p.E45K	p.E45K	NM_138568.3	NP_612635.3	Q2M3D2	EX3L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00883)	3	173	-		all_neural(266;0.224)|Ovarian(192;0.231)	45					Q8N9W2|Q96GV2	Missense_Mutation	SNP	ENST00000252482.3	37	c.133G>A	CCDS12657.1	.	.	.	.	.	.	.	.	.	.	C	9.529	1.110284	0.20714	.	.	ENSG00000130201	ENST00000252482;ENST00000413988	T;T	0.04970	3.52;3.52	4.89	4.89	0.63831	.	0.077143	0.49916	D	0.000130	T	0.10337	0.0253	L	0.54323	1.7	0.33677	D	0.611621	D	0.57257	0.979	P	0.51487	0.671	T	0.01819	-1.1267	10	0.02654	T	1	.	13.5202	0.61563	0.0:1.0:0.0:0.0	.	45	Q2M3D2	EX3L2_HUMAN	K	45	ENSP00000252482:E45K;ENSP00000400713:E45K	ENSP00000252482:E45K	E	-	1	0	EXOC3L2	50423322	0.945000	0.32115	0.939000	0.37840	0.155000	0.21991	2.646000	0.46630	2.267000	0.75376	0.305000	0.20034	GAA		0.642	EXOC3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338073.1	NM_138568		5	229	0	0	0	1	0	5	229					T	45731482	C	T	45731482	3	4	221	1	0	0	0	0	1	0	0	0	5305	893	31	1	1128	1	EXOC3L2	19	45731482	Missense_Mutation	SNP	C	TCGA-EL-A3H1-01A-11D-A21A-08		45731482	13397501	30	4663											
MPPED1	758	broad.mit.edu	37	chr22	43898562	43898562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagaagatgcagcgggtgGgctgtgtggagctgctcaac	16	9	1	2			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr22:43898562G>A	ENST00000417669.2	+	6	1231	c.787G>A	c.(787-789)Ggc>Agc	p.G263S	MPPED1_ENST00000542779.1_Missense_Mutation_p.G263S|MPPED1_ENST00000538182.1_Missense_Mutation_p.G296S|MPPED1_ENST00000414469.2_Missense_Mutation_p.G157S|MPPED1_ENST00000439548.1_Missense_Mutation_p.G105S|MPPED1_ENST00000443721.1_Missense_Mutation_p.G263S			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	263							hydrolase activity (GO:0016787)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GCAGCGGGTGGGCTGTGTGGA	0.632																																						ENST00000417669.1																			0				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13						c.(787-789)Ggc>Agc		metallophosphoesterase domain containing 1							78	91	86					22																	43898562		2187	4299	6486	SO:0001583	missense	758						hydrolase activity	g.chr22:43898562G>A	U84894	CCDS46723.1	22q13.2	2013-09-20	2005-10-10	2005-10-10	ENSG00000186732	ENSG00000186732			1306	protein-coding gene	gene with protein product		602112	"chromosome 22 open reading frame 1"	C22orf1		9266672, 10591208	Standard	NM_001044370		Approved	239AB, FAM1A	uc011apv.2	O15442	OTTHUMG00000150566	ENST00000417669.2:c.787G>A	22.37:g.43898562G>A	ENSP00000388137:p.Gly263Ser					MPPED1_ENST00000414469.2_Missense_Mutation_p.G157S|MPPED1_ENST00000538182.1_Missense_Mutation_p.G296S|MPPED1_ENST00000439548.1_Missense_Mutation_p.G105S|MPPED1_ENST00000443721.1_Missense_Mutation_p.G263S|MPPED1_ENST00000542779.1_Missense_Mutation_p.G263S	p.G263S			O15442	MPPD1_HUMAN			6	1231	+		all_neural(38;0.0244)|Ovarian(80;0.0694)	263					A8K159|B7Z2S9|Q8N361	Missense_Mutation	SNP	ENST00000417669.2	37	c.787G>A	CCDS46723.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506919	0.64410	.	.	ENSG00000186732	ENST00000417669;ENST00000443721;ENST00000545165;ENST00000414469;ENST00000439548;ENST00000542779;ENST00000538182	D;D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52	4.27	3.25	0.37280	Metallophosphoesterase domain (1);	.	.	.	.	D	0.91050	0.7184	H	0.94462	3.54	0.80722	D	1	D;P	0.58620	0.983;0.799	D;P	0.64410	0.925;0.736	D	0.92502	0.6009	9	0.87932	D	0	.	12.3173	0.54964	0.0843:0.0:0.9157:0.0	.	296;263	B7Z2S9;O15442	.;MPPD1_HUMAN	S	263;263;241;157;105;263;296	ENSP00000388137:G263S;ENSP00000400686:G263S;ENSP00000388245:G157S;ENSP00000390379:G105S;ENSP00000444532:G263S;ENSP00000438335:G296S	ENSP00000388245:G157S	G	+	1	0	MPPED1	42229891	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	8.958000	0.93099	0.942000	0.37525	0.399000	0.26434	GGC		0.632	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318938.2	NM_001044370		20	139	0	0	0	1	0	20	139					A	43898562	G	A	43898562	3	1	221	1	0	0	0	0	1	0	0	0	9741	1232	43	2	685	2	MPPED1	22	43898562	Missense_Mutation	SNP	G	TCGA-EL-A3H1-01A-11D-A21A-08		43898562	7406004	31	4664											
SEPT6	23157	broad.mit.edu	37	chrX	118797459	118797459	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctttacctgtcctctttgttGatctggtccccaaagccaac	6	14	2	1			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chrX:118797459G>T	ENST00000343984.5	-	3	591	c.327C>A	c.(325-327)atC>atA	p.I109I	SEPT6_ENST00000489216.1_Silent_p.I109I|SEPT6_ENST00000394617.2_Silent_p.I139I|SEPT6_ENST00000360156.7_Silent_p.I109I|SEPT6_ENST00000354416.3_Silent_p.I109I|SEPT6_ENST00000394616.4_Silent_p.I51I|SEPT6_ENST00000394610.1_Silent_p.I109I|SEPT6_ENST00000354228.4_Silent_p.I109I	NM_015129.5	NP_055944.2	Q14141	SEPT6_HUMAN	septin 6	109	Septin-type G.				cytokinesis (GO:0000910)|viral process (GO:0016032)	axon terminus (GO:0043679)|kinetochore (GO:0000776)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)	GTP binding (GO:0005525)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						CCTCTTTGTTGATCTGGTCCC	0.557			T	MLL	AML																																	ENST00000394610.1				Dom	yes		X	Xq24	23157	T	septin 6			L	MLL		AML		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						c.(325-327)atC>atA		septin 6							175	172	173					X																	118797459		2203	4300	6503	SO:0001819	synonymous_variant	23157				cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding	g.chrX:118797459G>T	D50918	CCDS14583.1, CCDS14584.1, CCDS14585.1	Xq24	2013-01-21			ENSG00000125354	ENSG00000125354		"Septins"	15848	protein-coding gene	gene with protein product		300683				8590280, 10744683	Standard	NM_015129		Approved	KIAA0128, SEP2, SEPT2, MGC16619, MGC20339	uc004erv.3	Q14141	OTTHUMG00000022280	ENST00000343984.5:c.327C>A	X.37:g.118797459G>T						SEPT6_ENST00000489216.1_Silent_p.I109I|SEPT6_ENST00000394616.4_Silent_p.I51I|SEPT6_ENST00000394617.2_Silent_p.I139I|SEPT6_ENST00000343984.5_Silent_p.I109I|SEPT6_ENST00000360156.7_Silent_p.I109I|SEPT6_ENST00000354416.3_Silent_p.I109I|SEPT6_ENST00000354228.4_Silent_p.I109I	p.I109I	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN			3	591	-			109					Q5JTK0|Q969W5|Q96A13|Q96GR1|Q96P86|Q96P87	Silent	SNP	ENST00000343984.5	37	c.327C>A	CCDS14584.1																																																																																				0.557	SEPT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058059.1	NM_145802		19	282	1	0	9.95505e-16	1	1.06496e-15	19	282					T	118797459	G	T	118797459	2	4	221	1	0	0	0	0	0	0	0	1	14068	1280	45	4		4	SEPT6	23	118797459	Silent	SNP	G	TCGA-EL-A3H1-01A-11D-A21A-08		118797459	36473101	32	4665											
PLXNB3	5365	broad.mit.edu	37	chrX	153042366	153042366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatggagcaacagtggggCtcgtccctcagctgcaccgt	13	13	1	1			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chrX:153042366C>T	ENST00000361971.5	+	29	4972	c.4858C>T	c.(4858-4860)Ctc>Ttc	p.L1620F	PLXNB3_ENST00000538966.1_Missense_Mutation_p.L1643F|SRPK3_ENST00000489426.1_5'UTR|PLXNB3_ENST00000538776.1_Missense_Mutation_p.L1273F	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1620					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AACAGTGGGGCTCGTCCCTCA	0.682																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(4927-4929)Ctc>Ttc		plexin B3							30	28	28					X																	153042366		2197	4295	6492	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153042366C>T	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.4858C>T	X.37:g.153042366C>T	ENSP00000355378:p.Leu1620Phe					PLXNB3_ENST00000361971.5_Missense_Mutation_p.L1620F|SRPK3_ENST00000489426.1_5'UTR|PLXNB3_ENST00000538776.1_Missense_Mutation_p.L1273F	p.L1643F	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			30	5198	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		1620					B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.4927C>T	CCDS14729.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.8|26.8	4.770775|4.770775	0.90108|0.90108	.|.	.|.	ENSG00000198753|ENSG00000198753	ENST00000455214|ENST00000538966;ENST00000361971;ENST00000538776	.|T;T;T	.|0.18810	.|2.19;2.19;2.19	4.92|4.92	4.92|4.92	0.64577|0.64577	.|Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.53498|0.53498	0.1800|0.1800	M|M	0.88377|0.88377	2.95|2.95	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.995;0.999;0.987	.|D;D;D	.|0.76071	.|0.983;0.987;0.983	T|T	0.64283|0.64283	-0.6444|-0.6444	5|10	.|0.87932	.|D	.|0	.|.	16.2486|16.2486	0.82467|0.82467	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1273;1643;1620	.|B7Z3H9;F5H773;Q9ULL4	.|.;.;PLXB3_HUMAN	V|F	123|1643;1620;1273	.|ENSP00000442736:L1643F;ENSP00000355378:L1620F;ENSP00000445569:L1273F	.|ENSP00000355378:L1620F	A|L	+|+	2|1	0|0	PLXNB3|PLXNB3	152695560|152695560	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.721000|0.721000	0.41392|0.41392	6.835000|6.835000	0.75344|0.75344	2.176000|2.176000	0.68965|0.68965	0.529000|0.529000	0.55759|0.55759	GCT|CTC		0.682	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			11	10	0	0	0	1	0	11	10					T	153042366	C	T	153042366	3	4	221	1	0	0	0	0	1	0	0	0	12125	797	28	2	5086	2	PLXNB3	23	153042366	Missense_Mutation	SNP	C	TCGA-EL-A3H1-01A-11D-A21A-08	34244907	153042366	2228194	33	4666											
GDI1	2664	broad.mit.edu	37	chrX	153668409	153668409	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagactaccagcatgcgtgaCgtctaccggaagtttgatct	10	11	2	3			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chrX:153668409C>T	ENST00000447750.2	+	5	845	c.510C>T	c.(508-510)gaC>gaT	p.D170D		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	170					negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCATGCGTGACGTCTACCGGA	0.572																																						ENST00000447750.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16						c.(508-510)gaC>gaT		GDP dissociation inhibitor 1							313	285	294					X																	153668409		2203	4300	6503	SO:0001819	synonymous_variant	2664				protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding	g.chrX:153668409C>T	X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"mental retardation, X-linked 41", "mental retardation, X-linked 48", "rab GDP-dissociation inhibitor, alpha"	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.510C>T	X.37:g.153668409C>T							p.D170D	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN			5	845	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		170					P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Silent	SNP	ENST00000447750.2	37	c.510C>T	CCDS35452.1																																																																																				0.572	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081649.2	NM_001493		8	468	0	0	0	1	0	8	468					T	153668409	C	T	153668409	2	4	221	1	0	0	0	0	0	0	0	1	6320	535	19	1		1	GDI1	23	153668409	Silent	SNP	C	TCGA-EL-A3H1-01A-11D-A21A-08	626043	153668409	1602151	34	4667											
DKC1	1736	broad.mit.edu	37	chrX	154003524	154003524	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtaaaagccccgcaggtagtTgccgaagcagcaaaaactgc	11	11	0	0			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chrX:154003524T>A	ENST00000369550.5	+	13	1524	c.1314T>A	c.(1312-1314)gtT>gtA	p.V438V	SNORA56_ENST00000383966.1_RNA|DKC1_ENST00000475966.1_3'UTR	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	438					cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGCAGGTAGTTGCCGAAGCAG	0.468									Congenital Dyskeratosis																													ENST00000369550.5																			0				breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15						c.(1312-1314)gtT>gtA		dyskeratosis congenita 1, dyskerin							118	98	105					X																	154003524		2203	4300	6503	SO:0001819	synonymous_variant	1736	Congenital Dyskeratosis	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity	g.chrX:154003524T>A	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.1314T>A	X.37:g.154003524T>A						DKC1_ENST00000475966.1_3'UTR	p.V438V	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN			13	1524	+	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		438					F5BSB3|O43845|Q96G67|Q9Y505	Silent	SNP	ENST00000369550.5	37	c.1314T>A	CCDS14761.1																																																																																				0.468	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061180.5	NM_001363		39	49	0	0	0	1	0	39	49					A	154003524	T	A	154003524	2	1	221	1	0	0	0	0	0	0	0	1	4542	1799	63	5		5	DKC1	23	154003524	Silent	SNP	T	TCGA-EL-A3H1-01A-11D-A21A-08	335115	154003524	1267036	35	4668											
FAM129A	116496	broad.mit.edu	37	chr1	184792832	184792832	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atcttaggcagcaggtctgtCtgaagagtgggcaggagctc	15	8	3	2			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr1:184792832C>G	ENST00000367511.3	-	7	955	c.762G>C	c.(760-762)caG>caC	p.Q254H	RNU7-13P_ENST00000516413.1_RNA|FAM129A_ENST00000487074.1_Intron	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	254					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						GCAGGTCTGTCTGAAGAGTGG	0.512																																						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.(760-762)caG>caC		family with sequence similarity 129, member A							132	117	122					1																	184792832		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.chr1:184792832C>G	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.762G>C	1.37:g.184792832C>G	ENSP00000356481:p.Gln254His					FAM129A_ENST00000487074.1_Intron	p.Q254H	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN			7	955	-			254					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	c.762G>C	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396793	0.83120	.	.	ENSG00000135842	ENST00000367511	T	0.11930	2.73	5.76	4.85	0.62838	.	0.118599	0.64402	D	0.000017	T	0.33469	0.0864	M	0.64997	1.995	0.52099	D	0.999947	D	0.89917	1.0	D	0.87578	0.998	T	0.02950	-1.1090	10	0.48119	T	0.1	-25.5836	13.0894	0.59158	0.0:0.9262:0.0:0.0738	.	254	Q9BZQ8	NIBAN_HUMAN	H	254	ENSP00000356481:Q254H	ENSP00000356481:Q254H	Q	-	3	2	FAM129A	183059455	1.000000	0.71417	0.904000	0.35570	0.963000	0.63663	3.052000	0.49893	1.437000	0.47472	0.655000	0.94253	CAG		0.512	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			3	109	0	0	0	0.115264	0	3	109					G	184792832	C	G	184792832	3	3	222	1	0	0	0	0	1	0	0	0	5436	912	32	4	2056	4	FAM129A	1	184792832	Missense_Mutation	SNP	C	TCGA-EL-A3H2-01A-11D-A20C-08		184792832	64457789	1	4669											
POTEE	445582	broad.mit.edu	37	chr2	131976198	131976198	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttcccctgctgcagggggAgtggcaagagcaacgtgggc	17	11	0	1			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr2:131976198A>G	ENST00000356920.5	+	1	317	c.223A>G	c.(223-225)Agt>Ggt	p.S75G	POTEE_ENST00000358087.5_Missense_Mutation_p.S75G|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	75					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											CTGCAGGGGGAGTGGCAAGAG	0.587																																						ENST00000356920.5																			0											c.(223-225)Agt>Ggt		POTE ankyrin domain family, member E							127	125	126					2																	131976198		2203	4300	6503	SO:0001583	missense	445582						ATP binding	g.chr2:131976198A>G	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.223A>G	2.37:g.131976198A>G	ENSP00000439189:p.Ser75Gly					POTEE_ENST00000358087.5_Missense_Mutation_p.S75G|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	p.S75G	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN			1	317	+			75					Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.223A>G	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	6.293	0.422244	0.11928	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.79554	-1.28;1.37	.	.	.	.	.	.	.	.	T	0.69584	0.3127	L	0.29908	0.895	0.09310	N	1	B	0.26041	0.14	B	0.32805	0.153	T	0.62006	-0.6945	7	0.87932	D	0	.	.	.	.	.	75	Q6S8J3	POTEE_HUMAN	G	75	ENSP00000439189:S75G;ENSP00000443049:S75G	ENSP00000439189:S75G	S	+	1	0	AC131180.1	131692668	0.046000	0.20272	0.039000	0.18376	0.062000	0.15995	0.170000	0.16663	0.138000	0.18790	0.136000	0.15936	AGT		0.587	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		3	196	0	0	0	0.184627	0	3	196					G	131976198	A	G	131976198	3	3	222	1	0	0	0	0	1	0	0	0	12264	304	11	3	225	3	POTEE	2	131976198	Missense_Mutation	SNP	A	TCGA-EL-A3H2-01A-11D-A20C-08		131976198	111223175	2	4670											
FKBP7	51661	broad.mit.edu	37	chr2	179341923	179341923	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaacaaaccatttggggtggCcttcattttgtgtccggcta	11	9	1	0	rs533896380		TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr2:179341923C>G	ENST00000424785.2	-	2	297	c.239G>C	c.(238-240)gGc>gCc	p.G80A	FKBP7_ENST00000464248.1_5'UTR|FKBP7_ENST00000434643.2_Missense_Mutation_p.G80A	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	FK506 binding protein 7	80	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			TTTGGGGTGGCCTTCATTTTG	0.383																																					Melanoma(26;682 927 5286 17599 46613)	ENST00000424785.2																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(238-240)gGc>gCc		FK506 binding protein 7							76	77	76					2																	179341923		2203	4300	6503	SO:0001583	missense	51661				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:179341923C>G	AF092137	CCDS2280.1, CCDS46462.1	2q31.2	2013-01-10	2001-11-28		ENSG00000079150	ENSG00000079150		"EF-hand domain containing"	3723	protein-coding gene	gene with protein product		607062	"FK506-binding protein 7"			9806833	Standard	NM_181342		Approved	FKBP23	uc002umk.3	Q9Y680	OTTHUMG00000132577	ENST00000424785.2:c.239G>C	2.37:g.179341923C>G	ENSP00000413152:p.Gly80Ala					FKBP7_ENST00000434643.2_Missense_Mutation_p.G80A|FKBP7_ENST00000464248.1_5'UTR	p.G80A	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		2	297	-			80			PPIase FKBP-type.		Q4ZG70|Q6V3B2|Q86U65|Q96DA4|Q9Y6B0	Missense_Mutation	SNP	ENST00000424785.2	37	c.239G>C	CCDS2280.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.237567	0.79800	.	.	ENSG00000079150	ENST00000424785;ENST00000350591;ENST00000434643	D;D	0.85411	-1.98;-1.98	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.92047	0.7480	M	0.72479	2.2	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.994	D;D;D	0.91635	0.995;0.999;0.91	D	0.92107	0.5693	10	0.54805	T	0.06	-0.0426	18.983	0.92761	0.0:1.0:0.0:0.0	.	80;80;80	B4DRE2;Q9Y680-3;Q9Y680-2	.;.;.	A	80	ENSP00000413152:G80A;ENSP00000415486:G80A	ENSP00000233092:G80A	G	-	2	0	FKBP7	179050169	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.739000	0.55075	2.504000	0.84457	0.563000	0.77884	GGC		0.383	FKBP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255783.1	NM_181342		7	85	0	0	0	0.38729	0	7	85					G	179341923	C	G	179341923	3	3	222	1	0	0	0	0	1	0	0	0	5913	739	26	4	441	4	FKBP7	2	179341923	Missense_Mutation	SNP	C	TCGA-EL-A3H2-01A-11D-A20C-08	47365725	179341923	63857450	3	4671											
ERBB4	2066	broad.mit.edu	37	chr2	212248348	212248348	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccacaactgagcttacaccaCagtattccggtgtctgtaag	8	12	1	1			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr2:212248348C>A	ENST00000342788.4	-	28	4229	c.3919G>T	c.(3919-3921)Gtg>Ttg	p.V1307L	ERBB4_ENST00000436443.1_Missense_Mutation_p.V1291L|ERBB4_ENST00000402597.1_Missense_Mutation_p.V1297L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1307					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GCTTACACCACAGTATTCCGG	0.537										TSP Lung(8;0.080)																												ENST00000342788.4																			0				NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(3919-3921)Gtg>Ttg		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							61	63	62					2																	212248348		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212248348C>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3919G>T	2.37:g.212248348C>A	ENSP00000342235:p.Val1307Leu	TSP Lung(8;0.080)				ERBB4_ENST00000436443.1_Missense_Mutation_p.V1291L|ERBB4_ENST00000402597.1_Missense_Mutation_p.V1297L	p.V1307L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	28	4229	-		Renal(323;0.06)|Lung NSC(271;0.197)	1307					B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.3919G>T	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331053	0.81690	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.80214	-1.33;-1.35;-1.34	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000001	D	0.84270	0.5435	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.61697	0.99;0.99;0.99;0.984	D;D;D;D	0.75484	0.98;0.986;0.98;0.956	D	0.86232	0.1638	10	0.87932	D	0	.	19.2448	0.93898	0.0:1.0:0.0:0.0	.	1281;1297;1291;1307	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	L	1307;1291;1297	ENSP00000342235:V1307L;ENSP00000403204:V1291L;ENSP00000385565:V1297L	ENSP00000342235:V1307L	V	-	1	0	ERBB4	211956593	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.320000	0.79064	2.777000	0.95525	0.557000	0.71058	GTG		0.537	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		3	100	1	0	0.150653	0.150653	0.160069	3	100					A	212248348	C	A	212248348	3	1	222	1	0	0	0	0	1	0	0	0	5209	478	17	4	11	4	ERBB4	2	212248348	Missense_Mutation	SNP	C	TCGA-EL-A3H2-01A-11D-A20C-08	32906425	212248348	30951025	4	4672											
ANKRD56	345079	broad.mit.edu	37	chr4	77816864	77816864	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catatttccccagaggtattActggttagatactgccatgg	9	9	0	2			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr4:77816864A>T	ENST00000334306.2	-	1	2138	c.2139T>A	c.(2137-2139)agT>agA	p.S713R		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	713																	CAGAGGTATTACTGGTTAGAT	0.522																																						ENST00000334306.2																			0											c.(2137-2139)agT>agA		sosondowah ankyrin repeat domain family member B							212	234	227					4																	77816864		2203	4300	6503	SO:0001583	missense	345079							g.chr4:77816864A>T		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"Ankyrin repeat domain containing"	32958	protein-coding gene	gene with protein product			"ankyrin repeat domain 56"	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.2139T>A	4.37:g.77816864A>T	ENSP00000334879:p.Ser713Arg						p.S713R	NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN			1	2138	-			713					B2RP29	Missense_Mutation	SNP	ENST00000334306.2	37	c.2139T>A	CCDS34017.1	.	.	.	.	.	.	.	.	.	.	A	13.83	2.352712	0.41700	.	.	ENSG00000186212	ENST00000334306	T	0.32988	1.43	5.5	-1.31	0.09230	Ankyrin repeat-containing domain (2);	0.159972	0.40064	U	0.001192	T	0.16769	0.0403	L	0.28504	0.86	0.09310	N	0.999996	B	0.21688	0.059	B	0.24541	0.054	T	0.15435	-1.0437	10	0.27082	T	0.32	-10.4786	5.7866	0.18336	0.4969:0.2445:0.2586:0.0	.	713	A6NEL2	ANR56_HUMAN	R	713	ENSP00000334879:S713R	ENSP00000334879:S713R	S	-	3	2	ANKRD56	78035888	0.000000	0.05858	0.990000	0.47175	0.487000	0.33371	-0.217000	0.09253	-0.078000	0.12730	-0.313000	0.08912	AGT		0.522	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		7	506	0	0	0	0.335167	0	7	506					T	77816864	A	T	77816864	3	4	222	1	0	0	0	0	1	0	0	0	682	388	14	5	246	5	ANKRD56	4	77816864	Missense_Mutation	SNP	A	TCGA-EL-A3H2-01A-11D-A20C-08		77816864	113337412	5	4673											
EGFLAM	133584	broad.mit.edu	37	chr5	38448474	38448474	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtatgacaacccagatatcTtgaagaggtaataagcttca	8	8	2	4			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr5:38448474T>C	ENST00000354891.3	+	19	2906	c.2560T>C	c.(2560-2562)Ttg>Ctg	p.L854L	EGFLAM_ENST00000336740.6_Silent_p.L612L|EGFLAM_ENST00000506135.1_5'UTR|EGFLAM_ENST00000397202.2_Silent_p.L212L|EGFLAM_ENST00000397210.3_5'UTR|EGFLAM_ENST00000514476.1_5'UTR|EGFLAM_ENST00000322350.5_Silent_p.L846L	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	854	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CCCAGATATCTTGAAGAGGTA	0.438																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(2536-2538)Ttg>Ctg		EGF-like, fibronectin type III and laminin G domains							149	147	147					5																	38448474		2203	4300	6503	SO:0001819	synonymous_variant	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38448474T>C	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"Fibronectin type III domain containing"	26810	protein-coding gene	gene with protein product	"pikachurin", "agrin-like"					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2560T>C	5.37:g.38448474T>C						EGFLAM_ENST00000397210.3_5'UTR|EGFLAM_ENST00000354891.3_Silent_p.L854L|EGFLAM_ENST00000514476.1_5'UTR|EGFLAM_ENST00000506135.1_5'UTR|EGFLAM_ENST00000397202.2_Silent_p.L212L|EGFLAM_ENST00000336740.6_Silent_p.L612L	p.L846L	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			18	2882	+	all_lung(31;0.000385)		854			Laminin G-like 3.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Silent	SNP	ENST00000354891.3	37	c.2536T>C	CCDS56363.1																																																																																				0.438	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		4	166	0	0	0	0.184627	0	4	166					C	38448474	T	C	38448474	2	2	222	1	0	0	0	0	0	0	0	1	4966	1606	56	3		3	EGFLAM	5	38448474	Silent	SNP	T	TCGA-EL-A3H2-01A-11D-A20C-08		38448474	142466786	6	4674											
SYCP2L	221711	broad.mit.edu	37	chr6	10894117	10894117	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcttcaatcacttattacGgatgcattccatgataaagg	7	9	2	1			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr6:10894117G>A	ENST00000283141.6	+	3	392	c.96G>A	c.(94-96)acG>acA	p.T32T	SYCP2L_ENST00000543878.1_5'UTR|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	32						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			CACTTATTACGGATGCATTCC	0.299																																						ENST00000283141.6																			0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(94-96)acG>acA		synaptonemal complex protein 2-like							34	33	33					6																	10894117		1797	4059	5856	SO:0001819	synonymous_variant	221711					nucleus		g.chr6:10894117G>A	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 177"	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.96G>A	6.37:g.10894117G>A						SYCP2L_ENST00000543878.1_5'UTR|RP11-637O19.3_ENST00000480294.1_3'UTR	p.T32T	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	Epithelial(50;0.239)		3	392	+	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	32					A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Silent	SNP	ENST00000283141.6	37	c.96G>A	CCDS43423.1																																																																																				0.299	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299		4	53	0	0	0	0.217242	0	4	53					A	10894117	G	A	10894117	2	1	222	1	0	0	0	0	0	0	0	1	15430	1103	39	1		1	SYCP2L	6	10894117	Silent	SNP	G	TCGA-EL-A3H2-01A-11D-A20C-08		10894117	160220950	7	4675											
CAMK2B	816	broad.mit.edu	37	chr7	44269096	44269096	+	Frame_Shift_Del	DEL	G	G	-													ctcaggatgtcggggaccctGggggctgaggcggaacaggt							TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr7:44269096delG	ENST00000395749.2	-	18	1306	c.1230delC	c.(1228-1230)cccfs	p.P410fs	CAMK2B_ENST00000358707.3_Intron|CAMK2B_ENST00000457475.1_Intron|CAMK2B_ENST00000346990.4_Intron|CAMK2B_ENST00000353625.4_Intron|CAMK2B_ENST00000347193.4_Intron|CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000502837.2_Intron|CAMK2B_ENST00000395747.2_Intron|CAMK2B_ENST00000440254.2_Intron|CAMK2B_ENST00000350811.3_Intron|CAMK2B_ENST00000258682.6_Intron	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	410					activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						CGGGGACCCTGGGGGCTGAGG	0.697																																						ENST00000395749.2																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						c.(1228-1230)ccfs		calcium/calmodulin-dependent protein kinase II beta							6	6	6					7																	44269096		2061	4116	6177	SO:0001589	frameshift_variant	816				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr7:44269096delG	U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"CaM-kinase II beta chain", "calcium/calmodulin-dependent protein kinase type II beta chain", "CaM kinase II beta subunit", "proline rich calmodulin-dependent protein kinase"	607707	"calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.1230delC	7.37:g.44269096delG	ENSP00000379098:p.Pro410fs					CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000502837.2_Intron|CAMK2B_ENST00000353625.4_Intron|CAMK2B_ENST00000358707.3_Intron|CAMK2B_ENST00000395747.2_Intron|CAMK2B_ENST00000346990.4_Intron|CAMK2B_ENST00000350811.3_Intron|CAMK2B_ENST00000457475.1_Intron|CAMK2B_ENST00000258682.6_Intron|CAMK2B_ENST00000440254.2_Intron|CAMK2B_ENST00000347193.4_Intron	p.P410fs	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN			18	1306	-			410					A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Frame_Shift_Del	DEL	ENST00000395749.2	37	c.1230delC	CCDS5483.1																																																																																				0.697	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251138.2	NM_172084		2	4						2	4	---	---	---	---	-	44269096	G	-	44269096	7	5	222	1	0	1	0	1	0	0	0	0	2600	1335	47	0	794	0	CAMK2B	7	44269096	Frame_Shift_Del	DEL	G	TCGA-EL-A3H2-01A-11D-A20C-08		44269096	114869567	8	4676											
COG5	10466	broad.mit.edu	37	chr7	106851577	106851577	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttcagttcagcgggtgctctCgtgaacaaaaactgaataat	9	8	3	2			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr7:106851577C>A	ENST00000347053.3	-	19	2342	c.2292G>T	c.(2290-2292)acG>acT	p.T764T	COG5_ENST00000297135.3_Silent_p.T785T|COG5_ENST00000393603.2_Silent_p.T785T	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	764					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CGGGTGCTCTCGTGAACAAAA	0.468																																						ENST00000393603.2																			0				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						c.(2353-2355)acG>acT		component of oligomeric golgi complex 5							99	93	95					7																	106851577		2203	4300	6503	SO:0001819	synonymous_variant	0				intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	g.chr7:106851577C>A	AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"Components of oligomeric golgi complex"	14857	protein-coding gene	gene with protein product		606821	"golgi transport complex 1 (90 kDa subunit)"	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.2292G>T	7.37:g.106851577C>A						COG5_ENST00000297135.3_Silent_p.T785T|COG5_ENST00000347053.3_Silent_p.T764T	p.T785T	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN			20	2626	-			764					A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Silent	SNP	ENST00000347053.3	37	c.2355G>T	CCDS5743.1																																																																																				0.468	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4			3	109	1	0	0.115264	0.115264	0.126419	3	109					A	106851577	C	A	106851577	2	1	222	1	0	0	0	0	0	0	0	1	3661	871	31	4		4	COG5	7	106851577	Silent	SNP	C	TCGA-EL-A3H2-01A-11D-A20C-08	62582481	106851577	52287086	9	4677											
CSMD1	64478	broad.mit.edu	37	chr8	3165913	3165913	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttgctgccatgcatggcGtaccccgggttgcaactgta	13	11	0	0	rs565627705	byFrequency	TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr8:3165913G>A	ENST00000520002.1	-	25	4302	c.3747C>T	c.(3745-3747)taC>taT	p.Y1249Y	CSMD1_ENST00000400186.3_Silent_p.Y1249Y|CSMD1_ENST00000537824.1_Silent_p.Y1248Y|CSMD1_ENST00000602557.1_Silent_p.Y1249Y|CSMD1_ENST00000542608.1_Silent_p.Y1248Y|CSMD1_ENST00000602723.1_Silent_p.Y1249Y|CSMD1_ENST00000539096.1_Silent_p.Y1248Y			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1249	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CATGCATGGCGTACCCCGGGT	0.517													G|||	3	0.000599042	0	0.0014	5008	,	,		19083	0.001		0	False		,,,				2504	0.001					ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(3745-3747)taC>taT		CUB and Sushi multiple domains 1							121	115	117					8																	3165913		2073	4210	6283	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:3165913G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3747C>T	8.37:g.3165913G>A						CSMD1_ENST00000602723.1_Silent_p.Y1249Y|CSMD1_ENST00000542608.1_Silent_p.Y1248Y|CSMD1_ENST00000537824.1_Silent_p.Y1248Y|CSMD1_ENST00000539096.1_Silent_p.Y1248Y|CSMD1_ENST00000520002.1_Silent_p.Y1249Y|CSMD1_ENST00000400186.3_Silent_p.Y1249Y	p.Y1249Y			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	25	4302	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1249			Sushi 7.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.3747C>T		.	.	.	.	.	.	.	.	.	.	G	5.019	0.189215	0.09547	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.4	-4.81	0.03180	.	.	.	.	.	T	0.62901	0.2466	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63462	-0.6632	4	.	.	.	.	14.5489	0.68052	0.5923:0.0:0.4077:0.0	.	.	.	.	C	729	.	.	R	-	1	0	CSMD1	3153320	0.170000	0.23016	0.486000	0.27416	0.522000	0.34438	-0.428000	0.06991	-0.896000	0.03915	-1.149000	0.01842	CGC		0.517	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		3	44	0	0	0	0.150653	0	3	44					A	3165913	G	A	3165913	2	1	222	1	0	0	0	0	0	0	0	1	3944	1140	40	1		1	CSMD1	8	3165913	Silent	SNP	G	TCGA-EL-A3H2-01A-11D-A20C-08		3165913	143198109	10	4678											
TMEM67	91147	broad.mit.edu	37	chr8	94809588	94809588	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtgtacgaagtgccactgttCctgtaagcatatggagaaca	11	8	0	1			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr8:94809588C>A	ENST00000453321.3	+	20	2048	c.1990C>A	c.(1990-1992)Cct>Act	p.P664T	TMEM67_ENST00000409623.3_Missense_Mutation_p.P583T	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	664					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TGCCACTGTTCCTGTAAGCAT	0.373																																						ENST00000453321.3																			0				breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41						c.(1990-1992)Cct>Act		transmembrane protein 67							162	152	156					8																	94809588		2203	4300	6503	SO:0001583	missense	91147				cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding	g.chr8:94809588C>A	BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"Meckelin"	609884	"Meckel syndrome, type 3"	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.1990C>A	8.37:g.94809588C>A	ENSP00000389998:p.Pro664Thr					TMEM67_ENST00000409623.3_Missense_Mutation_p.P583T	p.P664T	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00896)		20	2048	+	Breast(36;4.14e-07)		664					B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Missense_Mutation	SNP	ENST00000453321.3	37	c.1990C>A	CCDS6258.2	.	.	.	.	.	.	.	.	.	.	C	26.5	4.741008	0.89573	.	.	ENSG00000164953	ENST00000453321;ENST00000409623	D;D	0.97505	-4.41;-4.41	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.98213	0.9409	M	0.67953	2.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.79784	0.993;0.991;0.968	D	0.99129	1.0852	10	0.87932	D	0	-15.9077	19.6576	0.95849	0.0:1.0:0.0:0.0	.	664;583;583	Q5HYA8;B3KRU5;G5E9H2	MKS3_HUMAN;.;.	T	664;583	ENSP00000389998:P664T;ENSP00000386966:P583T	ENSP00000314488:P654T	P	+	1	0	TMEM67	94878764	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.651000	0.90000	0.650000	0.86243	CCT		0.373	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2	NM_153704		46	98	1	0	2.40265e-35	0.870114	3.14193e-35	46	98					A	94809588	C	A	94809588	3	1	222	1	0	0	0	0	1	0	0	0	16193	855	30	4	2206	4	TMEM67	8	94809588	Missense_Mutation	SNP	C	TCGA-EL-A3H2-01A-11D-A20C-08	91643675	94809588	51554434	11	4679											
ZNF169	169841	broad.mit.edu	37	chr9	97063337	97063337	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtgcatttggctttaagtcGctcctcacccgacaccagag	9	14	1	1			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr9:97063337G>T	ENST00000395395.2	+	5	1587	c.1497G>T	c.(1495-1497)tcG>tcT	p.S499S	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	499					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(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				GCTTTAAGTCGCTCCTCACCC	0.547																																						ENST00000395395.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1495-1497)tcG>tcT		zinc finger protein 169							92	79	84					9																	97063337		2203	4300	6503	SO:0001819	synonymous_variant	169841					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:97063337G>T	U28322	CCDS6709.2	9q22.32	2014-07-30			ENSG00000175787	ENSG00000175787		"Zinc fingers, C2H2-type", "-"	12957	protein-coding gene	gene with protein product		603404				9186526, 9071574	Standard	NM_001301275		Approved	MGC51961	uc004aum.1	Q14929	OTTHUMG00000020264	ENST00000395395.2:c.1497G>T	9.37:g.97063337G>T						ZNF169_ENST00000340911.4_3'UTR	p.S499S	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN			5	1587	+		Acute lymphoblastic leukemia(62;0.136)	499					A2AGP5|A8K127|Q6PI28	Silent	SNP	ENST00000395395.2	37	c.1497G>T	CCDS6709.2																																																																																				0.547	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253714.1	NM_194320		47	46	1	0	1.67211e-32	0.870114	2.10562e-32	47	46					T	97063337	G	T	97063337	2	4	222	1	0	0	0	0	0	0	0	1	17739	1074	38	4		4	ZNF169	9	97063337	Silent	SNP	G	TCGA-EL-A3H2-01A-11D-A20C-08		97063337	44150094	12	4680											
CRAT	1384	broad.mit.edu	37	chr9	131866547	131866547	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagatgaccacaggctggcgGtactggaggtaggcggtctt	16	8	1	2			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr9:131866547G>A	ENST00000318080.2	-	3	624	c.330C>T	c.(328-330)taC>taT	p.Y110Y	CRAT_ENST00000464290.1_Intron|AL158151.2_ENST00000408594.1_RNA	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	110					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	CAGGCTGGCGGTACTGGAGGT	0.637																																						ENST00000318080.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13						c.(328-330)taC>taT		carnitine O-acetyltransferase	L-Carnitine(DB00583)						48	37	41					9																	131866547		2202	4300	6502	SO:0001819	synonymous_variant	1384				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity	g.chr9:131866547G>A	X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"carnitine acetyltransferase"			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.330C>T	9.37:g.131866547G>A						CRAT_ENST00000464290.1_Intron	p.Y110Y	NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	3	624	-			110					Q5T952|Q9BW16	Silent	SNP	ENST00000318080.2	37	c.330C>T	CCDS6919.1																																																																																				0.637	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253700.1			3	35	0	0	0	0.115264	0	3	35					A	131866547	G	A	131866547	2	1	222	1	0	0	0	0	0	0	0	1	3847	1256	44	2		2	CRAT	9	131866547	Silent	SNP	G	TCGA-EL-A3H2-01A-11D-A20C-08	34803210	131866547	9346884	13	4681											
C10orf71	118461	broad.mit.edu	37	chr10	50531657	50531657	+	Frame_Shift_Del	DEL	C	C	-													ggggtgcagggatccaggagCccaggtatttgctgtggaag							TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr10:50531657delC	ENST00000374144.3	+	3	1355	c.1067delC	c.(1066-1068)gccfs	p.A356fs	C10orf71_ENST00000323868.4_Frame_Shift_Del_p.A356fs			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	356										endometrium(1)	1						GATCCAGGAGCCCAGGTATTT	0.567																																						ENST00000374144.3																			0				endometrium(1)	1						c.(1066-1068)gcfs		chromosome 10 open reading frame 71							45	48	47					10																	50531657		1886	4101	5987	SO:0001589	frameshift_variant	118461							g.chr10:50531657delC	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.1067delC	10.37:g.50531657delC	ENSP00000363259:p.Ala356fs					C10orf71_ENST00000323868.4_Frame_Shift_Del_p.A356fs	p.A356fs			Q711Q0	CJ071_HUMAN			3	1355	+			356					A0AVL8	Frame_Shift_Del	DEL	ENST00000374144.3	37	c.1067delC	CCDS44387.1																																																																																				0.567	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		43	55						43	55	---	---	---	---	-	50531657	C	-	50531657	7	5	222	1	0	1	0	1	0	0	0	0	1614	739	26	0	1069	0	C10orf71	10	50531657	Frame_Shift_Del	DEL	C	TCGA-EL-A3H2-01A-11D-A20C-08		50531657	85003090	14	4682											
IFLTD1	160492	broad.mit.edu	37	chr12	25702464	25702464	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgtactaaagaatatactcCaagtttgtcttctcttctgt	5	8	3	1			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr12:25702464C>A	ENST00000282881.6	-	2	192	c.43G>T	c.(43-45)Gga>Tga	p.G15*	IFLTD1_ENST00000445693.1_Intron|IFLTD1_ENST00000458174.2_Nonsense_Mutation_p.G36*|IFLTD1_ENST00000413632.2_Nonsense_Mutation_p.G36*|IFLTD1_ENST00000539744.1_5'UTR	NM_152590.3	NP_689803.2	Q8N9Z9	LMTD1_HUMAN		15					cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					GAATATACTCCAAGTTTGTCT	0.323																																						ENST00000282881.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(43-45)Gga>Tga		intermediate filament tail domain containing 1							61	55	57					12																	25702464		2203	4298	6501	SO:0001587	stop_gained	160492					intermediate filament	structural molecule activity	g.chr12:25702464C>A																												ENST00000282881.6:c.43G>T	12.37:g.25702464C>A	ENSP00000282881:p.Gly15*					IFLTD1_ENST00000445693.1_Intron|IFLTD1_ENST00000539744.1_5'UTR|IFLTD1_ENST00000413632.2_Nonsense_Mutation_p.G36*|IFLTD1_ENST00000458174.2_Nonsense_Mutation_p.G36*	p.G15*	NM_152590.3	NP_689803.2	Q8N9Z9	ILFT1_HUMAN			2	192	-	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)		15					B4DL27|B4DY70|Q8IY38	Nonsense_Mutation	SNP	ENST00000282881.6	37	c.43G>T	CCDS8704.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.169770	0.57584	.	.	ENSG00000152936	ENST00000282881;ENST00000458174;ENST00000413632	.	.	.	3.89	0.324	0.15898	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-8.7119	6.4763	0.22037	0.0:0.6322:0.0:0.3678	.	.	.	.	X	15;36;36	.	ENSP00000282881:G15X	G	-	1	0	IFLTD1	25593731	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.270000	0.18607	0.038000	0.15604	0.655000	0.94253	GGA		0.323	IFLTD1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402279.1			4	107	1	0	0.000602214	0.184627	0.00073126	4	107					A	25702464	C	A	25702464	4	1	222	1	0	0	0	0	0	1	0	0	7530	603	21	4	1151	4	IFLTD1	12	25702464	Nonsense_Mutation	SNP	C	TCGA-EL-A3H2-01A-11D-A20C-08		25702464	108149431	15	4683											
EFS	10278	broad.mit.edu	37	chr14	23826572	23826572	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttgacagccagcacagtggCccgcaatgcctggcccagtg	12	15	0	1			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr14:23826572C>A	ENST00000216733.3	-	6	2156	c.1549G>T	c.(1549-1551)Gcc>Tcc	p.A517S	RP11-124D2.3_ENST00000554010.1_RNA|EFS_ENST00000429593.2_Missense_Mutation_p.A348S|EFS_ENST00000351354.3_Missense_Mutation_p.A424S	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	517					cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		AGCACAGTGGCCCGCAATGCC	0.647																																						ENST00000216733.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16						c.(1549-1551)Gcc>Tcc		embryonal Fyn-associated substrate							42	44	44					14																	23826572		2203	4300	6503	SO:0001583	missense	0				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding	g.chr14:23826572C>A	AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"Cas scaffolding proteins"	16898	protein-coding gene	gene with protein product	"Cas scaffolding protein family member 3"	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.1549G>T	14.37:g.23826572C>A	ENSP00000216733:p.Ala517Ser					EFS_ENST00000351354.3_Missense_Mutation_p.A424S|EFS_ENST00000429593.2_Missense_Mutation_p.A348S	p.A517S	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN		GBM - Glioblastoma multiforme(265;0.00649)	6	2156	-	all_cancers(95;7.12e-06)		517					B2RAJ7|B4DJ56|E9PGU2|O43282	Missense_Mutation	SNP	ENST00000216733.3	37	c.1549G>T	CCDS9595.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.173336	0.38413	.	.	ENSG00000100842	ENST00000216733;ENST00000351354;ENST00000429593	T;T;T	0.22336	1.96;1.96;1.96	4.69	2.85	0.33270	CAS family, DUF3513 (1);	0.370951	0.26609	N	0.023433	T	0.18635	0.0447	L	0.55103	1.725	0.32616	N	0.524006	B;B;B	0.30793	0.295;0.013;0.146	B;B;B	0.32624	0.149;0.015;0.074	T	0.18085	-1.0348	10	0.21014	T	0.42	-9.2853	8.3912	0.32528	0.1543:0.7627:0.0:0.083	.	348;424;517	B4DJ56;O43281-2;O43281	.;.;EFS_HUMAN	S	517;424;348	ENSP00000216733:A517S;ENSP00000340607:A424S;ENSP00000416684:A348S	ENSP00000216733:A517S	A	-	1	0	EFS	22896412	0.999000	0.42202	0.995000	0.50966	0.948000	0.59901	1.196000	0.32198	0.569000	0.29329	0.655000	0.94253	GCC		0.647	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2			11	81	1	0	0.010729	0.38729	0.0125789	11	81					A	23826572	C	A	23826572	3	1	222	1	0	0	0	0	1	0	0	0	4959	739	26	4	140	4	EFS	14	23826572	Missense_Mutation	SNP	C	TCGA-EL-A3H2-01A-11D-A20C-08		23826572	83522968	16	4684											
MYH7	4625	broad.mit.edu	37	chr14	23885503	23885503	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcccggaggatcttgccctCctcgtgctccagggaggcct	14	15	1	0			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr14:23885503C>T	ENST00000355349.3	-	34	4825	c.4663G>A	c.(4663-4665)Gag>Aag	p.E1555K	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1555			E -> K (in CMH1). {ECO:0000269|PubMed:11968089}.		adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|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)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ATCTTGCCCTCCTCGTGCTCC	0.627																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	GRCh37	CM020953	MYH7	M		c.(4663-4665)Gag>Aag		myosin, heavy chain 7, cardiac muscle, beta							86	87	87					14																	23885503		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23885503C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4663G>A	14.37:g.23885503C>T	ENSP00000347507:p.Glu1555Lys						p.E1555K	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	34	4825	-	all_cancers(95;2.54e-05)		1555		E -> K (in CMH1).			A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.4663G>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936839	0.73557	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.84730	-1.89	4.55	4.55	0.56014	Myosin tail (1);	.	.	.	.	D	0.90614	0.7057	M	0.90198	3.095	0.58432	D	0.999999	P	0.42649	0.786	P	0.46585	0.521	D	0.92969	0.6396	9	0.87932	D	0	.	17.8682	0.88803	0.0:1.0:0.0:0.0	.	1555	P12883	MYH7_HUMAN	K	1555;1560	ENSP00000347507:E1555K	ENSP00000347507:E1555K	E	-	1	0	MYH7	22955343	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.312000	0.78968	2.537000	0.85549	0.655000	0.94253	GAG		0.627	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		8	217	0	0	0	0.335167	0	8	217					T	23885503	C	T	23885503	3	4	222	1	0	0	0	0	1	0	0	0	10039	864	30	2	1172	2	MYH7	14	23885503	Missense_Mutation	SNP	C	TCGA-EL-A3H2-01A-11D-A20C-08	58931	23885503	83464037	17	4685											
MLH3	27030	broad.mit.edu	37	chr14	75514649	75514649	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcactatgtactccccataaTgttgttgcaaaaggcagagg	10	9	0	1			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr14:75514649T>C	ENST00000556740.1	-	1	1745	c.1710A>G	c.(1708-1710)acA>acG	p.T570T	MLH3_ENST00000238662.7_Silent_p.T570T|MLH3_ENST00000556257.1_Silent_p.T570T|MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000355774.2_Silent_p.T570T|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000544985.1_5'Flank			Q9UHC1	MLH3_HUMAN	mutL homolog 3	570					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CTCCCCATAATGTTGTTGCAA	0.363								Mismatch excision repair (MMR)																														ENST00000355774.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1708-1710)acA>acG	Mismatch excision repair (MMR)	mutL homolog 3							127	128	128					14																	75514649		2203	4300	6503	SO:0001819	synonymous_variant	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75514649T>C	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"mutL (E. coli) homolog 3", "mutL homolog 3 (E. coli)"			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.1710A>G	14.37:g.75514649T>C						MLH3_ENST00000556740.1_Silent_p.T570T|MLH3_ENST00000556257.1_Silent_p.T570T|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Silent_p.T570T	p.T570T	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	2	1925	-			570					P49751|Q56DK9|Q9P292|Q9UHC0	Silent	SNP	ENST00000556740.1	37	c.1710A>G	CCDS32123.1																																																																																				0.363	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		3	96	0	0	0	0.115264	0	3	96					C	75514649	T	C	75514649	2	2	222	1	0	0	0	0	0	0	0	1	9618	1451	51	3		3	MLH3	14	75514649	Silent	SNP	T	TCGA-EL-A3H2-01A-11D-A20C-08	51629146	75514649	31834891	18	4686											
ARHGAP17	55114	broad.mit.edu	37	chr16	24953431	24953431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaactcggggtggtgagaGgtacaaatgcttctgataca	13	6	1	3			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr16:24953431G>A	ENST00000289968.6	-	16	1436	c.1367C>T	c.(1366-1368)cCt>cTt	p.P456L	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.P456L	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	456					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GGTGGTGAGAGGTACAAATGC	0.507																																						ENST00000289968.6																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30						c.(1366-1368)cCt>cTt		Rho GTPase activating protein 17							100	100	100					16																	24953431		2197	4300	6497	SO:0001583	missense	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24953431G>A	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"Rho GTPase activating proteins"	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.1367C>T	16.37:g.24953431G>A	ENSP00000289968:p.Pro456Leu					ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.P456L	p.P456L	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	16	1436	-			456					A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	37	c.1367C>T	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.849797	0.51270	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000455311	T;T	0.23950	1.88;1.97	5.85	3.8	0.43715	.	0.394507	0.18892	N	0.128275	T	0.13500	0.0327	N	0.12182	0.205	0.80722	D	1	B;B	0.12013	0.005;0.001	B;B	0.09377	0.004;0.003	T	0.06716	-1.0811	10	0.35671	T	0.21	.	9.2866	0.37760	0.085:0.1592:0.7558:0.0	.	456;456	Q68EM7-2;Q68EM7	.;RHG17_HUMAN	L	456	ENSP00000289968:P456L;ENSP00000303130:P456L	ENSP00000289968:P456L	P	-	2	0	ARHGAP17	24860932	0.984000	0.35163	0.997000	0.53966	0.984000	0.73092	1.764000	0.38471	2.773000	0.95371	0.655000	0.94253	CCT		0.507	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		3	119	0	0	0	0.184627	0	3	119					A	24953431	G	A	24953431	3	1	222	1	0	0	0	0	1	0	0	0	867	1000	35	2	1298	2	ARHGAP17	16	24953431	Missense_Mutation	SNP	G	TCGA-EL-A3H2-01A-11D-A20C-08		24953431	65401322	19	4687											
NFAT5	10725	broad.mit.edu	37	chr16	69727410	69727410	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccccgcagcagggtttatttCagcctcaggtggccctgggc	13	14	2	0			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr16:69727410C>A	ENST00000354436.2	+	12	3946	c.3628C>A	c.(3628-3630)Cag>Aag	p.Q1210K	NFAT5_ENST00000566899.1_Missense_Mutation_p.Q1134K|NFAT5_ENST00000567239.1_Missense_Mutation_p.Q1227K|NFAT5_ENST00000393742.2_Missense_Mutation_p.Q1134K|NFAT5_ENST00000432919.1_Missense_Mutation_p.Q1228K|NFAT5_ENST00000349945.1_Missense_Mutation_p.Q1134K	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1210					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GGGTTTATTTCAGCCTCAGGT	0.512																																						ENST00000349945.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3400-3402)Cag>Aag		nuclear factor of activated T-cells 5, tonicity-responsive							79	81	80					16																	69727410		2198	4300	6498	SO:0001583	missense	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69727410C>A	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"Nuclear factor of activated T-cells"	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.3628C>A	16.37:g.69727410C>A	ENSP00000346420:p.Gln1210Lys					NFAT5_ENST00000566899.1_Missense_Mutation_p.Q1134K|NFAT5_ENST00000567239.1_Missense_Mutation_p.Q1227K|NFAT5_ENST00000354436.2_Missense_Mutation_p.Q1210K|NFAT5_ENST00000432919.1_Missense_Mutation_p.Q1228K|NFAT5_ENST00000393742.2_Missense_Mutation_p.Q1134K	p.Q1134K	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			14	4952	+			1210					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	c.3400C>A	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214707	0.58452	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.60548	0.68;0.18;0.18;0.18	5.46	5.46	0.80206	.	0.398439	0.29631	N	0.011608	T	0.73225	0.3560	L	0.56769	1.78	0.53688	D	0.999978	D;P;P	0.54964	0.969;0.924;0.924	D;P;P	0.64877	0.93;0.9;0.9	T	0.74598	-0.3612	10	0.66056	D	0.02	-1.0247	19.3102	0.94184	0.0:1.0:0.0:0.0	.	1227;1210;1228	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	K	1228;1227;1134;1210;1134	ENSP00000396538:Q1228K;ENSP00000338806:Q1134K;ENSP00000346420:Q1210K;ENSP00000377343:Q1134K	ENSP00000338806:Q1134K	Q	+	1	0	NFAT5	68284911	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	5.677000	0.68142	2.565000	0.86533	0.555000	0.69702	CAG		0.512	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		4	110	1	0	0.014758	0.184627	0.0167257	4	110					A	69727410	C	A	69727410	3	1	222	1	0	0	0	0	1	0	0	0	10360	827	29	4	3732	4	NFAT5	16	69727410	Missense_Mutation	SNP	C	TCGA-EL-A3H2-01A-11D-A20C-08	44773979	69727410	20627343	20	4688											
STAT5B	6777	broad.mit.edu	37	chr17	40354774	40354774	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cacagccacctggacacttaCtcagggaccacttgcttgat	8	14	1	1			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr17:40354774C>G	ENST00000293328.3	-	17	2298		c.e17+1			NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B						2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TGGACACTTACTCAGGGACCA	0.532																																						ENST00000293328.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.e17+1		signal transducer and activator of transcription 5B	Dasatinib(DB01254)						310	232	258					17																	40354774		2203	4300	6503	SO:0001630	splice_region_variant	6777				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity	g.chr17:40354774C>G	BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"SH2 domain containing"	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.2129+1G>C	17.37:g.40354774C>G								NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.135)	17	2298	-		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)						Q8WWS8	Splice_Site	SNP	ENST00000293328.3	37		CCDS11423.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101081	0.76983	.	.	ENSG00000173757	ENST00000293328	.	.	.	4.48	4.48	0.54585	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3352	0.87278	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	STAT5B	37608300	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.466000	0.80914	2.323000	0.78572	0.561000	0.74099	.		0.532	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448	Intron	9	232	0	0	0	0.335167	0	9	232					G	40354774	C	G	40354774	5	3	222	1	0	0	0	0	0	0	1	0	15268	579	20	4	245	4	STAT5B	17	40354774	Splice_Site	SNP	C	TCGA-EL-A3H2-01A-11D-A20C-08		40354774	40840436	21	4689											
DSG4	147409	broad.mit.edu	37	chr18	28986167	28986167	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagttatatgcctgtgaTtgcgatgacaaccacatgtg	11	8	0	2			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr18:28986167T>C	ENST00000308128.4	+	12	1899	c.1764T>C	c.(1762-1764)gaT>gaC	p.D588D	RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Silent_p.D588D|RP11-534N16.1_ENST00000581856.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	588					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATGCCTGTGATTGCGATGACA	0.483																																						ENST00000359747.4																			0				NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(1762-1764)gaT>gaC		desmoglein 4							113	108	110					18																	28986167		2203	4300	6503	SO:0001819	synonymous_variant	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28986167T>C	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"Cadherins / Major cadherins"	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.1764T>C	18.37:g.28986167T>C						RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Silent_p.D588D	p.D588D	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		12	1793	+			588					A2RUI1|Q6Y9L9|Q8IXV4	Silent	SNP	ENST00000308128.4	37	c.1764T>C	CCDS11897.1																																																																																				0.483	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		10	99	0	0	0	0.38729	0	10	99					C	28986167	T	C	28986167	2	2	222	1	0	0	0	0	0	0	0	1	4779	1490	52	3		3	DSG4	18	28986167	Silent	SNP	T	TCGA-EL-A3H2-01A-11D-A20C-08		28986167	49091081	22	4690											
KIAA1683	80726	broad.mit.edu	37	chr19	18378325	18378325	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgccttgattaccggacaGgtcagctctgcctgtggggg	14	10	2	1			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr19:18378325G>A	ENST00000600328.3	-	3	218	c.25C>T	c.(25-27)Ctg>Ttg	p.L9L	KIAA1683_ENST00000392413.4_Silent_p.L9L|KIAA1683_ENST00000600359.3_5'UTR			Q9H0B3	K1683_HUMAN	KIAA1683	9						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TTACCGGACAGGTCAGCTCTG	0.667																																						ENST00000392413.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(25-27)Ctg>Ttg		KIAA1683							53	60	57					19																	18378325		2201	4294	6495	SO:0001819	synonymous_variant	80726					mitochondrion		g.chr19:18378325G>A	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.25C>T	19.37:g.18378325G>A						KIAA1683_ENST00000600328.2_Silent_p.L9L|KIAA1683_ENST00000600359.2_5'UTR	p.L9L	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN			3	240	-			9					B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Silent	SNP	ENST00000600328.3	37	c.25C>T	CCDS32958.1																																																																																				0.667	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			3	101	0	0	0	0.115264	0	3	101					A	18378325	G	A	18378325	2	1	222	1	0	0	0	0	0	0	0	1	8251	991	35	2		2	KIAA1683	19	18378325	Silent	SNP	G	TCGA-EL-A3H2-01A-11D-A20C-08		18378325	40750658	23	4691											
FKBP8	23770	broad.mit.edu	37	chr19	18650451	18650451	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgacgtctgcagatgtacGgtgaccacctggcccttgac	12	13	1	3	rs367858174	byFrequency	TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr19:18650451G>A	ENST00000596558.2	-	3	481	c.372C>T	c.(370-372)acC>acT	p.T124T	FKBP8_ENST00000608443.1_Silent_p.T124T|FKBP8_ENST00000597960.3_Silent_p.T124T|FKBP8_ENST00000453489.2_Silent_p.T153T|FKBP8_ENST00000610101.1_Intron|FKBP8_ENST00000222308.4_Silent_p.T124T			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	124	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						GCAGATGTACGGTGACCACCT	0.652																																						ENST00000597960.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						c.(370-372)acC>acT		FK506 binding protein 8, 38kDa							140	146	144					19																	18650451		2203	4300	6503	SO:0001819	synonymous_variant	23770				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding	g.chr19:18650451G>A	L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"Tetratricopeptide (TTC) repeat domain containing"	3724	protein-coding gene	gene with protein product	"FK506-binding protein 8 (38kD)"	604840	"FK506-binding protein 8 (38kD)"			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.372C>T	19.37:g.18650451G>A						FKBP8_ENST00000222308.3_Silent_p.T124T|FKBP8_ENST00000544835.2_Intron|FKBP8_ENST00000453489.2_Silent_p.T153T|FKBP8_ENST00000596558.1_Silent_p.T124T	p.T124T			Q14318	FKBP8_HUMAN			3	492	-			124			PPIase FKBP-type.		C8C9T5|Q53GU3|Q7Z349|Q86YK6	Silent	SNP	ENST00000596558.2	37	c.372C>T																																																																																					0.652	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000466374.3	NM_012181		4	202	0	0	0	0.184627	0	4	202					A	18650451	G	A	18650451	2	1	222	1	0	0	0	0	0	0	0	1	5914	1103	39	1		1	FKBP8	19	18650451	Silent	SNP	G	TCGA-EL-A3H2-01A-11D-A20C-08	272126	18650451	40478532	24	4692											
TRIB3	57761	broad.mit.edu	37	chr20	377081	377081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcttcggcaagatccgccGcggggcctacgccttgcctg	13	16	1	1	rs140801463		TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr20:377081G>A	ENST00000217233.3	+	4	1377	c.824G>A	c.(823-825)cGc>cAc	p.R275H	TRIB3_ENST00000422053.2_Missense_Mutation_p.R302H	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	275	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of protein binding (GO:0032092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|regulation of glucose transport (GO:0010827)|regulation of MAP kinase activity (GO:0043405)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|transcription corepressor activity (GO:0003714)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase regulator activity (GO:0055106)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		AAGATCCGCCGCGGGGCCTAC	0.692													G|||	1	0.000199681	0	0	5008	,	,		17981	0		0.001	False		,,,				2504	0				Melanoma(101;421 2374 19538)	ENST00000217233.3																			0				breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21						c.(823-825)cGc>cAc		tribbles pseudokinase 3		G	HIS/ARG	0,4406		0,0,2203	50	50	50		824	5.2	0.7	20	dbSNP_134	50	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TRIB3	NM_021158.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	275/359	377081	1,13005	2203	4300	6503	SO:0001583	missense	57761				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr20:377081G>A	AF250311	CCDS12997.1	20p13-p12.2	2013-10-03	2013-10-03	2004-05-04	ENSG00000101255	ENSG00000101255			16228	protein-coding gene	gene with protein product		607898	"chromosome 20 open reading frame 97", "tribbles homolog 3 (Drosophila)"	C20orf97		12791994, 16715410	Standard	XM_005260773		Approved	dJ1103G7.3, TRB3	uc002wdm.3	Q96RU7	OTTHUMG00000031627	ENST00000217233.3:c.824G>A	20.37:g.377081G>A	ENSP00000217233:p.Arg275His					TRIB3_ENST00000422053.2_Missense_Mutation_p.R302H	p.R275H	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)	4	1377	+		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)	275			Protein kinase.		Q53GU4|Q53ZW7|Q6I9Y9|Q8TAI6|Q9H5M8|Q9NUD2	Missense_Mutation	SNP	ENST00000217233.3	37	c.824G>A	CCDS12997.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	18.40	3.614896	0.66672	0.0	1.16E-4	ENSG00000101255	ENST00000217233;ENST00000422053	T;T	0.66099	-0.19;-0.19	5.23	5.23	0.72850	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.43110	D	0.000609	T	0.68430	0.3000	M	0.64170	1.965	0.41503	D	0.988292	D;D	0.61697	0.99;0.99	P;P	0.49999	0.628;0.628	T	0.72921	-0.4145	10	0.66056	D	0.02	-16.6532	16.343	0.83101	0.0:0.0:1.0:0.0	.	302;275	B4DMM9;Q96RU7	.;TRIB3_HUMAN	H	275;302	ENSP00000217233:R275H;ENSP00000415416:R302H	ENSP00000217233:R275H	R	+	2	0	TRIB3	325081	0.995000	0.38212	0.712000	0.30502	0.502000	0.33828	5.601000	0.67606	2.716000	0.92895	0.655000	0.94253	CGC		0.692	TRIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077441.2	NM_021158		5	97	0	0	0	0.27861	0	5	97					A	377081	G	A	377081	3	1	222	1	0	0	0	0	1	0	0	0	16481	1087	38	1	834	1	TRIB3	20	377081	Missense_Mutation	SNP	G	TCGA-EL-A3H2-01A-11D-A20C-08		377081	62648439	25	4693											
DSCAM	1826	broad.mit.edu	37	chr21	41414505	41414505	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgaacttggcgtgcctcaGttgctcttccatcttggcgt	12	11	3	1			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr21:41414505G>A	ENST00000400454.1	-	32	5956	c.5479C>T	c.(5479-5481)Ctg>Ttg	p.L1827L		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1827					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCGTGCCTCAGTTGCTCTTCC	0.537																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(5479-5481)Ctg>Ttg		Down syndrome cell adhesion molecule							192	182	186					21																	41414505		2150	4262	6412	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41414505G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5479C>T	21.37:g.41414505G>A							p.L1827L	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			32	5956	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1827					O60468	Silent	SNP	ENST00000400454.1	37	c.5479C>T	CCDS42929.1																																																																																				0.537	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		4	136	0	0	0	0.217242	0	4	136					A	41414505	G	A	41414505	2	1	222	1	0	0	0	0	0	0	0	1	4768	1020	36	2		2	DSCAM	21	41414505	Silent	SNP	G	TCGA-EL-A3H2-01A-11D-A20C-08		41414505	6715390	26	4694											
MYO18B	84700	broad.mit.edu	37	chr22	26423340	26423340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccaaaggtgggcaagacgGttcacagcgttcaagcatcc	12	11	2	1			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr22:26423340G>A	ENST00000407587.2	+	43	7572	c.7403G>A	c.(7402-7404)gGt>gAt	p.G2468D	MYO18B_ENST00000335473.7_Missense_Mutation_p.G2467D|MYO18B_ENST00000536101.1_Missense_Mutation_p.G2467D			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2467						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGGCAAGACGGTTCACAGCGT	0.542																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(7399-7401)gGt>gAt		myosin XVIIIB							94	98	97					22																	26423340		2011	4156	6167	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26423340G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.7403G>A	22.37:g.26423340G>A	ENSP00000386096:p.Gly2468Asp					MYO18B_ENST00000407587.2_Missense_Mutation_p.G2468D|MYO18B_ENST00000536101.1_Missense_Mutation_p.G2467D	p.G2467D	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			43	7650	+			2467					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.7400G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.712|7.712	0.695401|0.695401	0.15106|0.15106	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587|ENST00000543971	D;D;D|.	0.87887|.	-2.29;-2.29;-2.31|.	5.17|5.17	1.76|1.76	0.24704|0.24704	.|.	1.366540|.	0.04730|.	N|.	0.421043|.	T|T	0.23014|0.23014	0.0556|0.0556	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.15141|.	0.003;0.007;0.007;0.003;0.012|.	B;B;B;B;B|.	0.18561|.	0.006;0.01;0.01;0.004;0.022|.	T|T	0.23726|0.23726	-1.0180|-1.0180	10|5	0.66056|.	D|.	0.02|.	.|.	7.4188|7.4188	0.27061|0.27061	0.1585:0.1367:0.7049:0.0|0.1585:0.1367:0.7049:0.0	.|.	1980;2469;2467;2468;2467|.	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7|.	.;.;MY18B_HUMAN;.;.|.	D|I	2467;2467;2468|417	ENSP00000441229:G2467D;ENSP00000334563:G2467D;ENSP00000386096:G2468D|.	ENSP00000334563:G2467D|.	G|V	+|+	2|1	0|0	MYO18B|MYO18B	24753340|24753340	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	0.726000|0.726000	0.25984|0.25984	0.524000|0.524000	0.28502|0.28502	0.561000|0.561000	0.74099|0.74099	GGT|GTT		0.542	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		4	94	0	0	0	0.184627	0	4	94					A	26423340	G	A	26423340	3	1	222	1	0	0	0	0	1	0	0	0	10066	1261	44	2	7566	2	MYO18B	22	26423340	Missense_Mutation	SNP	G	TCGA-EL-A3H2-01A-11D-A20C-08		26423340	24881226	27	4695											
CCDC157	550631	broad.mit.edu	37	chr22	30772567	30772567	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcagccctgcacatccccaTctcggcagccctgcagccag	10	19	1	0	rs202178544	byFrequency	TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr22:30772567T>C	ENST00000405659.1	+	12	2801	c.2092T>C	c.(2092-2094)Tct>Cct	p.S698P	CCDC157_ENST00000338306.3_Missense_Mutation_p.S698P|RP1-130H16.16_ENST00000332468.4_RNA			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	698										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						CACATCCCCATCTCGGCAGCC	0.667													T|||	6	0.00119808	0.0038	0.0014	5008	,	,		15299	0		0	False		,,,				2504	0					ENST00000405659.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						c.(2092-2094)Tct>Cct		coiled-coil domain containing 157							71	79	76					22																	30772567		2203	4300	6503	SO:0001583	missense	550631							g.chr22:30772567T>C	BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.2092T>C	22.37:g.30772567T>C	ENSP00000385357:p.Ser698Pro					CCDC157_ENST00000338306.3_Missense_Mutation_p.S698P|RP1-130H16.16_ENST00000332468.4_RNA	p.S698P			Q569K6	CC157_HUMAN			12	2801	+			698					Q0VD76|Q9BYA4	Missense_Mutation	SNP	ENST00000405659.1	37	c.2092T>C	CCDS33632.2	.	.	.	.	.	.	.	.	.	.	T	7.336	0.619980	0.14193	.	.	ENSG00000187860	ENST00000405659;ENST00000338306	T;T	0.39229	1.09;1.09	3.04	-2.83	0.05769	.	1.188910	0.06203	N	0.683596	T	0.20373	0.0490	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19549	-1.0302	10	0.25106	T	0.35	-1.9381	7.0241	0.24930	0.0:0.3799:0.0:0.6201	.	698	Q569K6	CC157_HUMAN	P	698	ENSP00000385357:S698P;ENSP00000343087:S698P	ENSP00000343087:S698P	S	+	1	0	CCDC157	29102567	0.000000	0.05858	0.008000	0.14137	0.026000	0.11368	-0.341000	0.07811	-0.707000	0.05022	-0.415000	0.06103	TCT		0.667	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320936.1	NM_001017437		5	300	0	0	0	0.217242	0	5	300					C	30772567	T	C	30772567	3	2	222	1	0	0	0	0	1	0	0	0	2789	1435	50	3	2130	3	CCDC157	22	30772567	Missense_Mutation	SNP	T	TCGA-EL-A3H2-01A-11D-A20C-08	4349227	30772567	20531999	28	4696											
MMADHC	27249	broad.mit.edu	37	chr2	150426631	150426631	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagagaatcctaaatgtcGgtagcgttcatcagtttcaa	8	8	3	1	rs118204048		TCGA-EL-A3H3-01A-11D-A202-08	TCGA-EL-A3H3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59a10c8a-5ba5-40f2-a72b-4febca3f8871	fd8ecb34-a0b7-4c8e-a43a-4f1b3fdb14fa	g.chr2:150426631G>A	ENST00000428879.1	-	7	1252	c.748C>T	c.(748-750)Cga>Tga	p.R250*	MMADHC_ENST00000303319.5_Nonsense_Mutation_p.R250*|MMADHC_ENST00000422782.2_Nonsense_Mutation_p.R284*			Q9H3L0	MMAD_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria	250					cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(2)	11						CCTAAATGTCGGTAGCGTTCA	0.368																																						ENST00000428879.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(2)	11	GRCh37	CM081188	MMADHC	M	rs118204048	c.(748-750)Cga>Tga		methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria							87	80	82					2																	150426631		2203	4300	6503	SO:0001587	stop_gained	27249					mitochondrion		g.chr2:150426631G>A	BC023995	CCDS2189.1	2q23	2011-05-12	2009-01-08	2009-01-08	ENSG00000168288	ENSG00000168288			25221	protein-coding gene	gene with protein product		611935	"chromosome 2 open reading frame 25"	C2orf25		18385497	Standard	NM_015702		Approved	CL25022, cblD	uc002txc.3	Q9H3L0	OTTHUMG00000155558	ENST00000428879.1:c.748C>T	2.37:g.150426631G>A	ENSP00000389060:p.Arg250*					MMADHC_ENST00000303319.5_Nonsense_Mutation_p.R250*|MMADHC_ENST00000422782.2_Nonsense_Mutation_p.R284*	p.R250*			Q9H3L0	MMAD_HUMAN			7	1252	-			250					B2R895|D3DP91|O95891	Nonsense_Mutation	SNP	ENST00000428879.1	37	c.748C>T	CCDS2189.1	.	.	.	.	.	.	.	.	.	.	G	37	6.263544	0.97421	.	.	ENSG00000168288	ENST00000303319;ENST00000428879;ENST00000422782	.	.	.	5.03	5.03	0.67393	.	0.121454	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-37.4275	17.7164	0.88338	0.0:0.0:1.0:0.0	.	.	.	.	X	250;250;284	.	ENSP00000301920:R250X	R	-	1	2	MMADHC	150134877	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.620000	0.61226	2.501000	0.84356	0.655000	0.94253	CGA		0.368	MMADHC-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332312.1	NM_015702		3	42	0	0	0	0.115264	0	3	42					A	150426631	G	A	150426631	4	1	223	1	0	0	0	0	0	1	0	0	9642	1124	39	1	146	1	MMADHC	2	150426631	Nonsense_Mutation	SNP	G	TCGA-EL-A3H3-01A-11D-A202-08		150426631	92772742	1	4697											
PRKDC	5591	broad.mit.edu	37	chr8	48774649	48774649	+	Frame_Shift_Del	DEL	G	G	-													ttctacaggaaaattatagcGgcgcttcaggtcgatcagat							TCGA-EL-A3H3-01A-11D-A202-08	TCGA-EL-A3H3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59a10c8a-5ba5-40f2-a72b-4febca3f8871	fd8ecb34-a0b7-4c8e-a43a-4f1b3fdb14fa	g.chr8:48774649delG	ENST00000314191.2	-	45	6012	c.5956delC	c.(5956-5958)cgcfs	p.R1986fs	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R1986fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1987					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AAATTATAGCGGCGCTTCAGG	0.323								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(5956-5958)gcfs	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							43	38	39					8																	48774649		1786	4019	5805	SO:0001589	frameshift_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48774649delG		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.5956delC	8.37:g.48774649delG	ENSP00000313420:p.Arg1986fs					PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R1986fs|PRKDC_ENST00000523565.1_5'UTR	p.R1986fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			45	6012	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1987					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Frame_Shift_Del	DEL	ENST00000314191.2	37	c.5956delC																																																																																					0.323	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		2	4						2	4	---	---	---	---	-	48774649	G	-	48774649	7	5	223	1	0	1	0	1	0	0	0	0	12521	1116	39	0	6599	0	PRKDC	8	48774649	Frame_Shift_Del	DEL	G	TCGA-EL-A3H3-01A-11D-A202-08		48774649	97589373	2	4698											
PPAPDC2	403313	broad.mit.edu	37	chr9	4662738	4662738	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aagaagctgggggtgtgcgcGggagagagctcgtcgtgggg	22	6	0	2			TCGA-EL-A3H3-01A-11D-A202-08	TCGA-EL-A3H3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59a10c8a-5ba5-40f2-a72b-4febca3f8871	fd8ecb34-a0b7-4c8e-a43a-4f1b3fdb14fa	g.chr9:4662738G>C	ENST00000381883.2	+	1	441	c.363G>C	c.(361-363)gcG>gcC	p.A121A	SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000223517.5_Intron|SPATA6L_ENST00000381895.5_Intron|SPATA6L_ENST00000475086.1_Intron|SPATA6L_ENST00000454239.2_Intron	NM_203453.3	NP_982278.3	Q8IY26	PPAC2_HUMAN	phosphatidic acid phosphatase type 2 domain containing 2	121						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(2)|lung(1)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.026)		GGGTGTGCGCGGGAGAGAGCT	0.657											OREG0019084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(187;1057 3809 8526)	ENST00000381883.2																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(361-363)gcG>gcC		phosphatidic acid phosphatase type 2 domain containing 2							44	43	43					9																	4662738		2203	4300	6503	SO:0001819	synonymous_variant	403313					integral to membrane	hydrolase activity	g.chr9:4662738G>C	AK128369	CCDS34981.1	9p24	2010-04-23			ENSG00000205808	ENSG00000205808			23682	protein-coding gene	gene with protein product	"polyisoprenoid diphosphate phosphatase type 1"	611666				16464866	Standard	NM_203453		Approved	FLJ90191, FLJ46512, PDP1	uc003zin.4	Q8IY26	OTTHUMG00000019466	ENST00000381883.2:c.363G>C	9.37:g.4662738G>C			OREG0019084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	620	SPATA6L_ENST00000381895.5_Intron|SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000454239.2_Intron|SPATA6L_ENST00000475086.1_Intron|SPATA6L_ENST00000223517.5_Intron	p.A121A	NM_203453.3	NP_982278.3	Q8IY26	PPAC2_HUMAN		GBM - Glioblastoma multiforme(50;0.026)	1	441	+	all_hematologic(13;0.137)	Breast(48;0.238)	121					B3KY05|Q5JVJ6|Q8NCK9	Silent	SNP	ENST00000381883.2	37	c.363G>C	CCDS34981.1																																																																																				0.657	PPAPDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051567.1	NM_203453		15	32	0	0	0	0.479597	0	15	32					C	4662738	G	C	4662738	2	2	223	1	0	0	0	0	0	0	0	1	12295	1103	39	4		4	PPAPDC2	9	4662738	Silent	SNP	G	TCGA-EL-A3H3-01A-11D-A202-08		4662738	136550693	3	4699											
ZNF878	729747	broad.mit.edu	37	chr19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacgaacagaactgggaaaActgaatgctttcccacactg	8	11	0	2			TCGA-EL-A3H3-01A-11D-A202-08	TCGA-EL-A3H3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59a10c8a-5ba5-40f2-a72b-4febca3f8871	fd8ecb34-a0b7-4c8e-a43a-4f1b3fdb14fa	g.chr19:12155673A>C	ENST00000547628.1	-	4	680	c.543T>G	c.(541-543)agT>agG	p.S181R	ZNF878_ENST00000602107.1_Missense_Mutation_p.S228R|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAAACTGAATGCTT	0.403																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(682-684)agT>agG		zinc finger protein 878							189	199	196					19																	12155673		2112	4260	6372	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155673A>C		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"Zinc fingers, C2H2-type", "-"	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.543T>G	19.37:g.12155673A>C	ENSP00000447931:p.Ser181Arg					CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R	p.S228R			C9JN71	ZN878_HUMAN			5	683	-			181						Missense_Mutation	SNP	ENST00000547628.1	37	c.684T>G	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	a	0	-2.730166	0.00089	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.07216	3.21	1.24	-2.47	0.06442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03871	0.0109	N	0.12831	0.26	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.39231	-0.9624	9	0.21540	T	0.41	.	5.2308	0.15420	0.5561:0.2971:0.0:0.1468	.	181	C9JN71	ZN878_HUMAN	R	181;228	ENSP00000447931:S181R	ENSP00000447931:S181R	S	-	3	2	AC022415.4;ZNF878	12016673	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.404000	0.07205	-2.785000	0.00359	-2.885000	0.00097	AGT		0.403	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		3	208	0	0	0	0.115264	0	3	208					C	12155673	A	C	12155673	3	2	223	1	0	0	0	0	1	0	0	0	18193	40	2	5	1056	5	ZNF878	19	12155673	Missense_Mutation	SNP	A	TCGA-EL-A3H3-01A-11D-A202-08		12155673	46973310	4	4700											
GNL3L	54552	broad.mit.edu	37	chrX	54581094	54581094	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tccgatgacgaaaatagcagAtgccattgaaaataaaacca	7	8	0	3			TCGA-EL-A3H3-01A-11D-A202-08	TCGA-EL-A3H3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59a10c8a-5ba5-40f2-a72b-4febca3f8871	fd8ecb34-a0b7-4c8e-a43a-4f1b3fdb14fa	g.chrX:54581094A>T	ENST00000336470.4	+	14	1554	c.1415A>T	c.(1414-1416)gAt>gTt	p.D472V	GNL3L_ENST00000360845.2_Missense_Mutation_p.D472V	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	472					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						AAAATAGCAGATGCCATTGAA	0.483																																						ENST00000336470.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						c.(1414-1416)gAt>gTt		guanine nucleotide binding protein-like 3 (nucleolar)-like							157	131	139					X																	54581094		2203	4300	6503	SO:0001583	missense	54552				ribosome biogenesis	nucleolus	GTP binding	g.chrX:54581094A>T	AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.1415A>T	X.37:g.54581094A>T	ENSP00000338573:p.Asp472Val					GNL3L_ENST00000360845.2_Missense_Mutation_p.D472V	p.D472V	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN			14	1554	+			472						Missense_Mutation	SNP	ENST00000336470.4	37	c.1415A>T	CCDS14360.1	.	.	.	.	.	.	.	.	.	.	A	11.34	1.610030	0.28712	.	.	ENSG00000130119	ENST00000336470;ENST00000360845	T;T	0.19669	2.13;2.13	3.97	2.81	0.32909	.	0.379543	0.30168	N	0.010249	T	0.10809	0.0264	N	0.19112	0.55	0.80722	D	1	B	0.30068	0.267	B	0.25405	0.06	T	0.14671	-1.0464	10	0.42905	T	0.14	-26.4751	4.9878	0.14198	0.8635:0.0:0.1365:0.0	.	472	Q9NVN8	GNL3L_HUMAN	V	472	ENSP00000338573:D472V;ENSP00000354091:D472V	ENSP00000338573:D472V	D	+	2	0	GNL3L	54597819	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.330000	0.33781	0.693000	0.31634	0.481000	0.45027	GAT		0.483	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1	NM_019067		4	78	0	0	0	0.217242	0	4	78					T	54581094	A	T	54581094	3	4	223	1	0	0	0	0	1	0	0	0	6538	333	12	5	1465	5	GNL3L	23	54581094	Missense_Mutation	SNP	A	TCGA-EL-A3H3-01A-11D-A202-08		54581094	100689466	5	4701											
HRNR	388697	broad.mit.edu	37	chr1	152192638	152192638	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccgtgttgtccgtggccGgaggagtgacctgagccaga	17	10	0	3			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr1:152192638G>A	ENST00000368801.2	-	3	1542	c.1467C>T	c.(1465-1467)tcC>tcT	p.S489S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	489					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCGTGGCCGGAGGAGTGAC	0.542																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(1465-1467)tcC>tcT		hornerin							299	280	286					1																	152192638		2203	4300	6503	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192638G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1467C>T	1.37:g.152192638G>A						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S489S	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1542	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		489					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.1467C>T	CCDS30859.1																																																																																				0.542	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		4	305	0	0	0	0.014758	0	4	305					A	152192638	G	A	152192638	2	1	224	1	0	0	0	0	0	0	0	1	7359	1103	39	1		1	HRNR	1	152192638	Silent	SNP	G	TCGA-EL-A3H4-01A-11D-A202-08		152192638	97057983	1	4702											
ALPK1	80216	broad.mit.edu	37	chr4	113353377	113353377	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggagacccccaattcctctGtaagcggtaacatcctcttc	7	15	2	1			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr4:113353377G>A	ENST00000458497.1	+	11	2953	c.2674G>A	c.(2674-2676)Gta>Ata	p.V892I	ALPK1_ENST00000177648.9_Missense_Mutation_p.V892I|ALPK1_ENST00000504176.2_Missense_Mutation_p.V814I	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	892							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CAATTCCTCTGTAAGCGGTAA	0.552																																						ENST00000458497.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53						c.(2674-2676)Gta>Ata		alpha-kinase 1							103	101	102					4																	113353377		2203	4300	6503	SO:0001583	missense	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113353377G>A	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"lymphocyte alpha-kinase"	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.2674G>A	4.37:g.113353377G>A	ENSP00000398048:p.Val892Ile					ALPK1_ENST00000504176.2_Missense_Mutation_p.V814I|ALPK1_ENST00000177648.9_Missense_Mutation_p.V892I	p.V892I	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	11	2953	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	892					B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	c.2674G>A	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.591173	0.28357	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.02579	4.31;4.31;4.24	5.17	-2.26	0.06867	.	1.283640	0.05158	N	0.497258	T	0.03477	0.0100	M	0.64997	1.995	0.09310	N	1	B;B;B	0.26318	0.053;0.146;0.031	B;B;B	0.22152	0.022;0.038;0.014	T	0.45086	-0.9285	10	0.37606	T	0.19	0.6981	1.5291	0.02532	0.1492:0.2799:0.2221:0.3488	.	814;814;892	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	I	892;892;814	ENSP00000398048:V892I;ENSP00000177648:V892I;ENSP00000426044:V814I	ENSP00000177648:V892I	V	+	1	0	ALPK1	113572826	0.000000	0.05858	0.000000	0.03702	0.157000	0.22087	0.068000	0.14531	-0.338000	0.08413	0.655000	0.94253	GTA		0.552	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		6	102	0	0	0	0.021553	0	6	102					A	113353377	G	A	113353377	3	1	224	1	0	0	0	0	1	0	0	0	544	1377	48	2	2708	2	ALPK1	4	113353377	Missense_Mutation	SNP	G	TCGA-EL-A3H4-01A-11D-A202-08		113353377	77800899	2	4703											
ARAP3	64411	broad.mit.edu	37	chr5	141051756	141051756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccgcacactgccggttggCccgattagaccagatcttct	10	14	2	2			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr5:141051756C>T	ENST00000239440.4	-	10	1563	c.1498G>A	c.(1498-1500)Gcc>Acc	p.A500T	ARAP3_ENST00000508305.1_Missense_Mutation_p.A422T|ARAP3_ENST00000513878.1_Missense_Mutation_p.A162T	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	500	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGCCGGTTGGCCCGATTAGAC	0.622																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(1498-1500)Gcc>Acc		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							126	124	125					5																	141051756		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141051756C>T	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.1498G>A	5.37:g.141051756C>T	ENSP00000239440:p.Ala500Thr					ARAP3_ENST00000513878.1_Missense_Mutation_p.A162T|ARAP3_ENST00000508305.1_Missense_Mutation_p.A422T	p.A500T	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			10	1563	-			500			Arf-GAP.		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.1498G>A	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.439065	0.43326	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.43294	0.95;0.95;0.95	3.51	2.64	0.31445	.	0.283376	0.28349	N	0.015679	T	0.29321	0.0730	L	0.41356	1.27	0.32297	N	0.565504	B;B;B	0.33637	0.011;0.42;0.134	B;B;B	0.32289	0.084;0.143;0.047	T	0.36915	-0.9728	10	0.62326	D	0.03	.	5.4179	0.16384	0.1975:0.6926:0.0:0.1099	.	162;422;500	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	T	422;500;162	ENSP00000421826:A422T;ENSP00000239440:A500T;ENSP00000421468:A162T	ENSP00000239440:A500T	A	-	1	0	ARAP3	141031940	0.995000	0.38212	1.000000	0.80357	0.909000	0.53808	2.059000	0.41384	0.682000	0.31407	0.563000	0.77884	GCC		0.622	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		4	215	0	0	0	0.009096	0	4	215					T	141051756	C	T	141051756	3	4	224	1	0	0	0	0	1	0	0	0	840	739	26	2	3232	2	ARAP3	5	141051756	Missense_Mutation	SNP	C	TCGA-EL-A3H4-01A-11D-A202-08		141051756	39863504	3	4704											
CUX1	1523	broad.mit.edu	37	chr7	101870830	101870830	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgactcccagcccacaacccCgctgcctctctccggacact	6	22	1	0			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr7:101870830C>A	ENST00000292535.7	+	21	3352	c.3314C>A	c.(3313-3315)cCg>cAg	p.P1105Q	CUX1_ENST00000550008.2_Missense_Mutation_p.P1049Q|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.P947Q|CUX1_ENST00000546411.2_Missense_Mutation_p.P1003Q|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Missense_Mutation_p.P1116Q|CUX1_ENST00000549414.2_Missense_Mutation_p.P1083Q|CUX1_ENST00000547394.2_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	1105					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCCACAACCCCGCTGCCTCTC	0.642																																						ENST00000360264.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(3346-3348)cCg>cAg		cut-like homeobox 1							56	59	58					7																	101870830		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101870830C>A	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.3314C>A	7.37:g.101870830C>A	ENSP00000292535:p.Pro1105Gln					CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.P1105Q|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.P1003Q|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.P947Q|CUX1_ENST00000550008.2_Missense_Mutation_p.P1049Q|CUX1_ENST00000549414.2_Missense_Mutation_p.P1083Q	p.P1116Q	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			21	3367	+			1105					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.3347C>A	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598935	0.66332	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.62105	0.06;0.06;0.06;0.05;0.07;0.05	5.88	5.88	0.94601	Lambda repressor-like, DNA-binding (1);	0.062472	0.64402	D	0.000003	T	0.75591	0.3870	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72982	0.953;0.979	T	0.68262	-0.5455	10	0.22706	T	0.39	-19.1185	20.2422	0.98381	0.0:1.0:0.0:0.0	.	1105;1116	P39880;P39880-3	CUX1_HUMAN;.	Q	1116;1105;1083;1049;1003;947	ENSP00000353401:P1116Q;ENSP00000292535:P1105Q;ENSP00000446630:P1083Q;ENSP00000447373:P1049Q;ENSP00000450125:P1003Q;ENSP00000451558:P947Q	ENSP00000292535:P1105Q	P	+	2	0	CUX1	101657550	1.000000	0.71417	0.543000	0.28128	0.583000	0.36354	5.999000	0.70665	2.782000	0.95742	0.655000	0.94253	CCG		0.642	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		3	58	1	0	0.115264	0.115264	0.13743	3	58					A	101870830	C	A	101870830	3	1	224	1	0	0	0	0	1	0	0	0	4064	652	23	4	3463	4	CUX1	7	101870830	Missense_Mutation	SNP	C	TCGA-EL-A3H4-01A-11D-A202-08		101870830	57267833	4	4705											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		37	35	0	0	0	0.074837	0	37	35					T	140453136	A	T	140453136	3	4	224	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3H4-01A-11D-A202-08	38582306	140453136	18685527	5	4706											
KIAA1429	25962	broad.mit.edu	37	chr8	95508670	95508670	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtccgtgatgtatgagctccCtctacttccatgagaccatt	8	12	1	3			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr8:95508670C>A	ENST00000297591.5	-	18	4344	c.4269G>T	c.(4267-4269)gaG>gaT	p.E1423D	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1423					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TATGAGCTCCCTCTACTTCCA	0.383																																						ENST00000297591.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(4267-4269)gaG>gaT		KIAA1429							182	156	165					8																	95508670		2203	4300	6503	SO:0001583	missense	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95508670C>A	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 121"					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.4269G>T	8.37:g.95508670C>A	ENSP00000297591:p.Glu1423Asp					KIAA1429_ENST00000437199.1_3'UTR	p.E1423D	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		18	4344	-	Breast(36;3.29e-05)		1423					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.4269G>T	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.549966	0.27652	.	.	ENSG00000164944	ENST00000297591	T	0.46063	0.88	5.52	3.52	0.40303	.	0.512836	0.22268	N	0.062303	T	0.10508	0.0257	N	0.00170	-1.935	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10730	-1.0617	10	0.14252	T	0.57	-5.0683	12.0164	0.53317	0.5815:0.4185:0.0:0.0	.	1423	Q69YN4	VIR_HUMAN	D	1423	ENSP00000297591:E1423D	ENSP00000297591:E1423D	E	-	3	2	KIAA1429	95577846	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.795000	0.38784	1.307000	0.44944	0.650000	0.86243	GAG		0.383	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		3	64	1	0	0.115264	0.115264	0.13743	3	64					A	95508670	C	A	95508670	3	1	224	1	0	0	0	0	1	0	0	0	8231	680	24	4	1197	4	KIAA1429	8	95508670	Missense_Mutation	SNP	C	TCGA-EL-A3H4-01A-11D-A202-08		95508670	50855352	6	4707											
FAM135B	51059	broad.mit.edu	37	chr8	139164287	139164287	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accacaaagttgagagcaagAtcctggggaaccttggctct	11	10	1	2			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr8:139164287A>G	ENST00000395297.1	-	13	2601	c.2431T>C	c.(2431-2433)Tct>Cct	p.S811P		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	811										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGAGAGCAAGATCCTGGGGAA	0.532										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(2431-2433)Tct>Cct		family with sequence similarity 135, member B							68	65	66					8																	139164287		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139164287A>G	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2431T>C	8.37:g.139164287A>G	ENSP00000378710:p.Ser811Pro	HNSCC(54;0.14)					p.S811P	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2601	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		811					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.2431T>C	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	A	9.001	0.980043	0.18812	.	.	ENSG00000147724	ENST00000395297	T	0.14893	2.47	5.39	-1.9	0.07665	.	1.820710	0.02202	N	0.062342	T	0.06050	0.0157	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.23440	-1.0188	10	0.28530	T	0.3	0.6741	1.2603	0.02000	0.2481:0.2051:0.3848:0.162	.	811;811;811	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	P	811	ENSP00000378710:S811P	ENSP00000276737:S811P	S	-	1	0	FAM135B	139233469	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.241000	0.08940	-0.045000	0.13468	-0.132000	0.14878	TCT		0.532	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		4	56	0	0	0	0.009096	0	4	56					G	139164287	A	G	139164287	3	3	224	1	0	0	0	0	1	0	0	0	5449	333	12	3	1821	3	FAM135B	8	139164287	Missense_Mutation	SNP	A	TCGA-EL-A3H4-01A-11D-A202-08	43655617	139164287	7199735	7	4708											
CYLC2	1539	broad.mit.edu	37	chr9	105767017	105767017	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagaggagatcgtagacaacCattatggatgtaccgttctt	10	7	1	3	rs188765977		TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr9:105767017C>A	ENST00000374798.3	+	4	291	c.221C>A	c.(220-222)cCa>cAa	p.P74Q	CYLC2_ENST00000487798.1_Missense_Mutation_p.P74Q	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	74	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				CGTAGACAACCATTATGGATG	0.378													C|||	1	0.000199681	0	0	5008	,	,		15253	0		0.001	False		,,,				2504	0					ENST00000374798.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41						c.(220-222)cCa>cAa		cylicin, basic protein of sperm head cytoskeleton 2							85	81	83					9																	105767017		2203	4300	6503	SO:0001583	missense	1539				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:105767017C>A	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.221C>A	9.37:g.105767017C>A	ENSP00000420256:p.Pro74Gln					CYLC2_ENST00000487798.1_Missense_Mutation_p.P74Q	p.P74Q	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN			4	291	+		all_hematologic(171;0.125)	74			31 X 3 AA repeats of K-K-X.		B2R8F4|Q5VVJ9	Missense_Mutation	SNP	ENST00000374798.3	37	c.221C>A	CCDS35085.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.71	3.197866	0.58126	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.23552	1.9;1.9	4.53	4.53	0.55603	.	0.000000	0.42964	D	0.000636	T	0.48466	0.1501	M	0.71581	2.175	0.34192	D	0.672217	D	0.89917	1.0	D	0.80764	0.994	T	0.62784	-0.6781	10	0.66056	D	0.02	-21.7515	12.9751	0.58532	0.0:1.0:0.0:0.0	.	74	Q14093	CYLC2_HUMAN	Q	74	ENSP00000420256:P74Q;ENSP00000417674:P74Q	ENSP00000420256:P74Q	P	+	2	0	CYLC2	104806838	0.767000	0.28508	0.953000	0.39169	0.664000	0.39144	3.221000	0.51215	2.511000	0.84671	0.591000	0.81541	CCA		0.378	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340		14	26	1	0	6.31663e-08	0.132662	8.51371e-08	14	26					A	105767017	C	A	105767017	3	1	224	1	0	0	0	0	1	0	0	0	4142	594	21	4	235	4	CYLC2	9	105767017	Missense_Mutation	SNP	C	TCGA-EL-A3H4-01A-11D-A202-08		105767017	35446414	8	4709											
OR1N2	138882	broad.mit.edu	37	chr9	125316420	125316420	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgggtaaactttttgtcagTggaaaaacattctttttatg	8	4	2	0			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr9:125316420T>C	ENST00000373688.2	+	1	1030	c.972T>C	c.(970-972)agT>agC	p.S324S		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	324						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TTTTTGTCAGTGGAAAAACAT	0.393																																						ENST00000373688.2																			0				breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						c.(970-972)agT>agC		olfactory receptor, family 1, subfamily N, member 2							88	89	89					9																	125316420		2203	4300	6503	SO:0001819	synonymous_variant	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125316420T>C		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"GPCR / Class A : Olfactory receptors"	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.972T>C	9.37:g.125316420T>C							p.S324S	NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN			1	1030	+			324					A3KFM2|B2RNY4|Q6IF17|Q96RA3	Silent	SNP	ENST00000373688.2	37	c.972T>C	CCDS35123.1																																																																																				0.393	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			12	44	0	0	0	0.09319	0	12	44					C	125316420	T	C	125316420	2	2	224	1	0	0	0	0	0	0	0	1	10970	1693	59	3		3	OR1N2	9	125316420	Silent	SNP	T	TCGA-EL-A3H4-01A-11D-A202-08	19549403	125316420	15897011	9	4710											
ABCC2	1244	broad.mit.edu	37	chr10	101596001	101596001	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgaaacacaatgaggtgaggAttgacaccaaccagaaatgt	10	7	0	5			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr10:101596001A>T	ENST00000370449.4	+	25	3681	c.3568A>T	c.(3568-3570)Att>Ttt	p.I1190F		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1190	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TGAGGTGAGGATTGACACCAA	0.483																																						ENST00000370449.4																			0				NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.(3568-3570)Att>Ttt		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						127	113	118					10																	101596001		2203	4300	6503	SO:0001583	missense	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101596001A>T	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"ATP binding cassette transporters / subfamily C"	53	protein-coding gene	gene with protein product		601107	"canalicular multispecific organic anion transporter 1"	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.3568A>T	10.37:g.101596001A>T	ENSP00000359478:p.Ile1190Phe						p.I1190F	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	25	3681	+		Colorectal(252;0.234)	1190			ABC transmembrane type-1 2.		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	c.3568A>T	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	A	12.50	1.957627	0.34565	.	.	ENSG00000023839	ENST00000370449	D	0.90069	-2.61	5.48	4.21	0.49690	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.137202	0.64402	D	0.000005	D	0.93602	0.7957	M	0.88775	2.98	0.80722	D	1	P	0.45827	0.867	P	0.57720	0.826	D	0.93246	0.6630	10	0.87932	D	0	-3.9213	9.4128	0.38503	0.8441:0.0:0.1559:0.0	.	1190	Q92887	MRP2_HUMAN	F	1190	ENSP00000359478:I1190F	ENSP00000359478:I1190F	I	+	1	0	ABCC2	101585991	0.847000	0.29606	0.105000	0.21289	0.368000	0.29767	2.446000	0.44908	0.900000	0.36469	0.260000	0.18958	ATT		0.483	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		11	64	0	0	0	0.069234	0	11	64					T	101596001	A	T	101596001	3	4	224	1	0	0	0	0	1	0	0	0	53	333	12	5	3666	5	ABCC2	10	101596001	Missense_Mutation	SNP	A	TCGA-EL-A3H4-01A-11D-A202-08		101596001	33938746	10	4711											
ZBTB39	9880	broad.mit.edu	37	chr12	57398352	57398352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaaaggtagagtgacagGcctggaggaggtcctccata	15	8	0	2			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr12:57398352G>A	ENST00000300101.2	-	2	435	c.350C>T	c.(349-351)gCc>gTc	p.A117V		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	117					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)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						AGAGTGACAGGCCTGGAGGAG	0.557																																						ENST00000300101.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						c.(349-351)gCc>gTc		zinc finger and BTB domain containing 39							77	70	72					12																	57398352		2203	4300	6503	SO:0001583	missense	9880				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:57398352G>A	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.350C>T	12.37:g.57398352G>A	ENSP00000300101:p.Ala117Val						p.A117V	NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN			2	435	-			117					A7MD38|Q9UD98	Missense_Mutation	SNP	ENST00000300101.2	37	c.350C>T	CCDS31839.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339651	0.41398	.	.	ENSG00000166860	ENST00000300101	T	0.68624	-0.34	5.93	5.93	0.95920	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.71787	0.3381	N	0.25890	0.77	0.58432	D	0.999998	D	0.63046	0.992	D	0.65874	0.939	T	0.69304	-0.5180	10	0.35671	T	0.21	-21.3566	17.8376	0.88704	0.0:0.0:1.0:0.0	.	117	O15060	ZBT39_HUMAN	V	117	ENSP00000300101:A117V	ENSP00000300101:A117V	A	-	2	0	ZBTB39	55684619	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.354000	0.73036	2.815000	0.96918	0.561000	0.74099	GCC		0.557	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830		13	56	0	0	0	0.105934	0	13	56					A	57398352	G	A	57398352	3	1	224	1	0	0	0	0	1	0	0	0	17537	1203	42	2	1792	2	ZBTB39	12	57398352	Missense_Mutation	SNP	G	TCGA-EL-A3H4-01A-11D-A202-08		57398352	76453543	11	4712											
RNF34	80196	broad.mit.edu	37	chr12	121855480	121855480	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcattctgagaaatataccCatagatacttgtcgtgagaa	7	8	2	3			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr12:121855480C>T	ENST00000392464.2	+	3	468	c.399C>T	c.(397-399)ccC>ccT	p.P133P	RNF34_ENST00000361234.5_Silent_p.P133P|RNF34_ENST00000555076.1_Intron|RNF34_ENST00000392465.3_Silent_p.P134P					ring finger protein 34, E3 ubiquitin protein ligase											breast(1)|large_intestine(1)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		GAAATATACCCATAGATACTT	0.453																																						ENST00000361234.5																			0				breast(1)|large_intestine(1)	2						c.(397-399)ccC>ccT		ring finger protein 34, E3 ubiquitin protein ligase							127	120	123					12																	121855480		2203	4300	6503	SO:0001819	synonymous_variant	80196				apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding	g.chr12:121855480C>T	AF306709, AB084914	CCDS9221.1, CCDS31915.1, CCDS73538.1	12q24.31	2012-02-23	2012-02-23			ENSG00000170633		"RING-type (C3HC4) zinc fingers"	17297	protein-coding gene	gene with protein product		608299	"ring finger protein 34"			12118383	Standard	NM_025126		Approved	RIFF, FLJ21786, RIF	uc001ual.2	Q969K3		ENST00000392464.2:c.399C>T	12.37:g.121855480C>T						RNF34_ENST00000555076.1_Intron|RNF34_ENST00000392464.2_Silent_p.P133P|RNF34_ENST00000392465.3_Silent_p.P134P	p.P133P	NM_025126.3	NP_079402.2	Q969K3	RNF34_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)	3	571	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		133			SAP 1.			Silent	SNP	ENST00000392464.2	37	c.399C>T																																																																																					0.453	RNF34-005	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000413892.1	NM_194271		4	71	0	0	0	0.009096	0	4	71					T	121855480	C	T	121855480	2	4	224	1	0	0	0	0	0	0	0	1	13489	581	21	2		2	RNF34	12	121855480	Silent	SNP	C	TCGA-EL-A3H4-01A-11D-A202-08	64457128	121855480	11996415	12	4713											
THSD1	55901	broad.mit.edu	37	chr13	52952229	52952229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccttgcctgtgacttgcGgatcagagtctggctggggc	16	10	2	2	rs144799411		TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr13:52952229G>A	ENST00000258613.4	-	5	2054	c.1876C>T	c.(1876-1878)Cgc>Tgc	p.R626C	THSD1_ENST00000349258.4_Missense_Mutation_p.R573C|THSD1_ENST00000544466.1_Missense_Mutation_p.R247C	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	626					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)		TGTGACTTGCGGATCAGAGTC	0.622													G|||	1	0.000199681	0	0	5008	,	,		15632	0		0.001	False		,,,				2504	0					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.(1717-1719)Cgc>Tgc		thrombospondin, type I, domain containing 1							48	47	48					13																	52952229		2203	4300	6503	SO:0001583	missense	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52952229G>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.1876C>T	13.37:g.52952229G>A	ENSP00000258613:p.Arg626Cys					THSD1_ENST00000544466.1_Missense_Mutation_p.R247C|THSD1_ENST00000258613.4_Missense_Mutation_p.R626C	p.R573C	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	4	2261	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	626					A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	c.1717C>T	CCDS9432.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.01	3.000795	0.54254	.	.	ENSG00000136114	ENST00000349258;ENST00000544466;ENST00000258613	T;T;T	0.33865	2.12;1.39;2.3	5.34	5.34	0.76211	.	0.346182	0.29653	N	0.011544	T	0.52933	0.1765	M	0.62723	1.935	0.45580	D	0.998525	D;D	0.89917	0.999;1.0	P;P	0.60415	0.809;0.874	T	0.55579	-0.8119	10	0.87932	D	0	-22.7323	13.701	0.62608	0.0:0.0:0.8358:0.1642	.	573;626	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	C	573;247;626	ENSP00000340650:R573C;ENSP00000438512:R247C;ENSP00000258613:R626C	ENSP00000258613:R626C	R	-	1	0	THSD1	51850230	0.994000	0.37717	0.939000	0.37840	0.535000	0.34838	2.712000	0.47186	2.508000	0.84585	0.552000	0.68991	CGC		0.622	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			5	60	0	0	0	0.014758	0	5	60					A	52952229	G	A	52952229	3	1	224	1	0	0	0	0	1	0	0	0	15874	1116	39	1	686	1	THSD1	13	52952229	Missense_Mutation	SNP	G	TCGA-EL-A3H4-01A-11D-A202-08		52952229	62217649	13	4714											
OR6S1	341799	broad.mit.edu	37	chr14	21108936	21108936	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actaccttcctaaacatgtcCttcaaagcttccttgacttg	4	13	1	1			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr14:21108936C>T	ENST00000320704.3	-	1	914	c.915G>A	c.(913-915)aaG>aaA	p.K305K		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TAAACATGTCCTTCAAAGCTT	0.398																																						ENST00000320704.3																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(913-915)aaG>aaA		olfactory receptor, family 6, subfamily S, member 1							187	177	180					14																	21108936		2203	4300	6503	SO:0001819	synonymous_variant	341799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21108936C>T	AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"GPCR / Class A : Olfactory receptors"	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.915G>A	14.37:g.21108936C>T							p.K305K	NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)	1	914	-	all_cancers(95;0.00304)		305					Q6IFJ9	Silent	SNP	ENST00000320704.3	37	c.915G>A	CCDS32038.1																																																																																				0.398	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411227.1			4	129	0	0	0	0.009096	0	4	129					T	21108936	C	T	21108936	2	4	224	1	0	0	0	0	0	0	0	1	11209	680	24	2		2	OR6S1	14	21108936	Silent	SNP	C	TCGA-EL-A3H4-01A-11D-A202-08		21108936	86240604	14	4715											
TMEM85	51234	broad.mit.edu	37	chr15	34520681	34520681	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttcttcagggtttggtctAtctcattgggaacctgatgg	12	7	4	1			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr15:34520681A>G	ENST00000267750.4	+	4	523	c.407A>G	c.(406-408)tAt>tGt	p.Y136C	EMC4_ENST00000559421.1_Intron|EMC4_ENST00000559078.1_Intron|EMC4_ENST00000249209.4_Intron|EMC4_ENST00000557879.1_3'UTR	NM_016454.2	NP_057538.1	Q5J8M3	EMC4_HUMAN	ER membrane protein complex subunit 4	136					apoptotic process (GO:0006915)	ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											GGTTTGGTCTATCTCATTGGG	0.443																																						ENST00000267750.4																			0											c.(406-408)tAt>tGt		ER membrane protein complex subunit 4							206	189	195					15																	34520681		2201	4298	6499	SO:0001583	missense	51234							g.chr15:34520681A>G	BC016348	CCDS10035.1, CCDS66732.1	15q14	2012-05-23	2012-05-23	2012-05-23	ENSG00000128463	ENSG00000128463			28032	protein-coding gene	gene with protein product			"transmembrane protein 85"	TMEM85		18586032, 22119785	Standard	NM_001286420		Approved	FLJ90746, MGC24415, PIG17	uc001zhq.3	Q5J8M3	OTTHUMG00000129411	ENST00000267750.4:c.407A>G	15.37:g.34520681A>G	ENSP00000267750:p.Tyr136Cys					EMC4_ENST00000249209.4_Intron|EMC4_ENST00000559421.1_Intron|EMC4_ENST00000559078.1_Intron|EMC4_ENST00000557879.1_3'UTR	p.Y136C	NM_016454.2	NP_057538.1					4	523	+								A8K3A9|B4DJQ4|Q96KX9|Q9BUI5|Q9P0T9	Missense_Mutation	SNP	ENST00000267750.4	37	c.407A>G	CCDS10035.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.932092	0.73442	.	.	ENSG00000128463	ENST00000267750	T	0.62105	0.05	5.99	4.85	0.62838	.	0.055802	0.85682	D	0.000000	T	0.79179	0.4402	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.81371	-0.0963	10	0.87932	D	0	-7.388	11.7221	0.51688	0.8674:0.0:0.0:0.1326	.	136	Q5J8M3	TMM85_HUMAN	C	136	ENSP00000267750:Y136C	ENSP00000267750:Y136C	Y	+	2	0	TMEM85	32307973	1.000000	0.71417	0.990000	0.47175	0.963000	0.63663	6.437000	0.73421	1.076000	0.40961	0.449000	0.29647	TAT		0.443	EMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251568.1	NM_016454		32	107	0	0	0	0.134883	0	32	107					G	34520681	A	G	34520681	3	3	224	1	0	0	0	0	1	0	0	0	16204	449	16	3	421	3	TMEM85	15	34520681	Missense_Mutation	SNP	A	TCGA-EL-A3H4-01A-11D-A202-08		34520681	68010711	15	4716											
VAC14	55697	broad.mit.edu	37	chr16	70815792	70815792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcttgcggtcatcgtagGccaagcagggcaagacagca	12	10	2	1			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr16:70815792G>A	ENST00000261776.5	-	8	1186	c.926C>T	c.(925-927)gCc>gTc	p.A309V		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	309					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				GTCATCGTAGGCCAAGCAGGG	0.562																																						ENST00000261776.5																			0				breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(925-927)gCc>gTc		Vac14 homolog (S. cerevisiae)							56	54	55					16																	70815792		2198	4300	6498	SO:0001583	missense	55697				interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	g.chr16:70815792G>A	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"Tax1 (human T-cell leukemia virus type I) binding protein 2"	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.926C>T	16.37:g.70815792G>A	ENSP00000261776:p.Ala309Val						p.A309V	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN			8	1186	-		Ovarian(137;0.0699)	309					B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	ENST00000261776.5	37	c.926C>T	CCDS10896.1	.	.	.	.	.	.	.	.	.	.	G	34	5.330100	0.95733	.	.	ENSG00000103043	ENST00000261776	.	.	.	5.56	5.56	0.83823	Armadillo-like helical (1);Armadillo-type fold (1);	0.050648	0.85682	D	0.000000	T	0.60392	0.2265	L	0.55481	1.735	0.80722	D	1	B	0.27013	0.166	B	0.31390	0.129	T	0.56153	-0.8026	9	0.12430	T	0.62	-24.4398	19.5375	0.95260	0.0:0.0:1.0:0.0	.	309	Q08AM6	VAC14_HUMAN	V	309	.	ENSP00000261776:A309V	A	-	2	0	VAC14	69373293	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.452000	0.97615	2.620000	0.88729	0.655000	0.94253	GCC		0.562	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	NM_018052		3	69	0	0	0	0.115264	0	3	69					A	70815792	G	A	70815792	3	1	224	1	0	0	0	0	1	0	0	0	17108	1203	42	2	1470	2	VAC14	16	70815792	Missense_Mutation	SNP	G	TCGA-EL-A3H4-01A-11D-A202-08		70815792	19538961	16	4717											
MYH8	4626	broad.mit.edu	37	chr17	10304037	10304037	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtcagagcgctgcttctcCgctttggctcgggacgccct	13	14	2	1	rs78443907		TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr17:10304037C>T	ENST00000403437.2	-	27	3499	c.3405G>A	c.(3403-3405)gcG>gcA	p.A1135A	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1135					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						GCTGCTTCTCCGCTTTGGCTC	0.557									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				C|||	1	0.000199681	8e-04	0	5008	,	,		17514	0		0	False		,,,				2504	0					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.(3403-3405)gcG>gcA		myosin, heavy chain 8, skeletal muscle, perinatal		C		0,4406		0,0,2203	54	61	59		3405	0.3	1.0	17	dbSNP_131	59	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	MYH8	NM_002472.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		1135/1938	10304037	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	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.chr17:10304037C>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.3405G>A	17.37:g.10304037C>T						CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.A1135A	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			27	3499	-			1135					Q14910	Silent	SNP	ENST00000403437.2	37	c.3405G>A	CCDS11153.1																																																																																				0.557	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		4	104	0	0	0	0.009096	0	4	104					T	10304037	C	T	10304037	2	4	224	1	0	0	0	0	0	0	0	1	10041	639	23	1		1	MYH8	17	10304037	Silent	SNP	C	TCGA-EL-A3H4-01A-11D-A202-08		10304037	70891173	17	4718											
MUC16	94025	broad.mit.edu	37	chr19	9069428	9069428	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgctgtgttctctgaaaaGtgaattgtctctgtatttgt	9	6	3	2			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr19:9069428G>T	ENST00000397910.4	-	3	18221	c.18018C>A	c.(18016-18018)caC>caA	p.H6006Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6008	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTCTGAAAAGTGAATTGTCT	0.458																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(18016-18018)caC>caA		mucin 16, cell surface associated							207	206	207					19																	9069428		1925	4143	6068	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9069428G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.18018C>A	19.37:g.9069428G>T	ENSP00000381008:p.His6006Gln						p.H6006Q	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	18221	-			6008			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.18018C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	6.257	0.415597	0.11870	.	.	ENSG00000181143	ENST00000397910	T	0.25912	1.77	1.36	0.173	0.15036	.	.	.	.	.	T	0.08758	0.0217	N	0.02158	-0.66	.	.	.	B	0.23540	0.087	B	0.14023	0.01	T	0.18681	-1.0329	8	0.87932	D	0	.	5.2389	0.15462	0.0:0.3721:0.6279:0.0	.	6006	B5ME49	.	Q	6006	ENSP00000381008:H6006Q	ENSP00000381008:H6006Q	H	-	3	2	MUC16	8930428	0.000000	0.05858	0.007000	0.13788	0.530000	0.34684	-1.104000	0.03326	0.125000	0.18397	0.281000	0.19383	CAC		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		24	153	1	0	2.39556e-15	0.076483	3.37557e-15	24	153					T	9069428	G	T	9069428	3	4	224	1	0	0	0	0	1	0	0	0	9973	1020	36	4	25833	4	MUC16	19	9069428	Missense_Mutation	SNP	G	TCGA-EL-A3H4-01A-11D-A202-08		9069428	50059555	18	4719											
PSG6	5675	broad.mit.edu	37	chr19	43411791	43411791	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcggtcccgtatttcacattGatagggtcctgtttcatttc	8	10	2	1			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr19:43411791G>C	ENST00000292125.2	-	4	966	c.922C>G	c.(922-924)Caa>Gaa	p.Q308E	PSG6_ENST00000187910.2_Missense_Mutation_p.Q308E|PSG6_ENST00000402603.4_Intron	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	308	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				ATTTCACATTGATAGGGTCCT	0.507																																						ENST00000187910.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(922-924)Caa>Gaa		pregnancy specific beta-1-glycoprotein 6																																				SO:0001583	missense	5675							g.chr19:43411791G>C		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.922C>G	19.37:g.43411791G>C	ENSP00000292125:p.Gln308Glu					PSG6_ENST00000292125.2_Missense_Mutation_p.Q308E|PSG6_ENST00000402603.4_Intron	p.Q308E	NM_001031850.3	NP_001027020.1					4	987	-		Prostate(69;0.00899)						O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	c.922C>G	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	0.077	-1.191116	0.01607	.	.	ENSG00000170848	ENST00000187910;ENST00000292125	T;T	0.11712	2.75;2.75	1.42	0.153	0.14897	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.02418	0.0074	N	0.00605	-1.335	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.002	T	0.46843	-0.9162	9	0.10111	T	0.7	.	5.3095	0.15823	0.0:0.6249:0.3751:0.0	.	308;308	Q00889;Q00889-2	PSG6_HUMAN;.	E	308	ENSP00000187910:Q308E;ENSP00000292125:Q308E	ENSP00000187910:Q308E	Q	-	1	0	PSG6	48103631	0.042000	0.20092	0.024000	0.17045	0.044000	0.14063	-0.064000	0.11636	-0.074000	0.12820	0.134000	0.15878	CAA		0.507	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		3	206	0	0	0	0.009096	0	3	206					C	43411791	G	C	43411791	3	2	224	1	0	0	0	0	1	0	0	0	12659	1299	45	4	436	4	PSG6	19	43411791	Missense_Mutation	SNP	G	TCGA-EL-A3H4-01A-11D-A202-08	34342363	43411791	15717192	19	4720											
SLC6A8	6535	broad.mit.edu	37	chrX	152956776	152956776	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggcctgggctacgcctccAtggtgatcgtcttctactgc	11	14	2	1			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chrX:152956776A>G	ENST00000253122.5	+	3	888	c.412A>G	c.(412-414)Atg>Gtg	p.M138V	SLC6A8_ENST00000430077.2_Missense_Mutation_p.M23V	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	138					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	CTACGCCTCCATGGTGATCGT	0.607																																						ENST00000253122.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(412-414)Atg>Gtg		solute carrier family 6 (neurotransmitter transporter), member 8	Creatine(DB00148)						42	35	37					X																	152956776		2195	4291	6486	SO:0001583	missense	6535				creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chrX:152956776A>G		CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"Solute carriers"	11055	protein-coding gene	gene with protein product	"creatine transporter"	300036	"solute carrier family 6 (neurotransmitter transporter, creatine), member 8"			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.412A>G	X.37:g.152956776A>G	ENSP00000253122:p.Met138Val					SLC6A8_ENST00000430077.2_Missense_Mutation_p.M23V	p.M138V	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN			3	888	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		138					B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Missense_Mutation	SNP	ENST00000253122.5	37	c.412A>G	CCDS14726.1	.	.	.	.	.	.	.	.	.	.	a	3.609	-0.079894	0.07141	.	.	ENSG00000130821	ENST00000253122;ENST00000430077	T;T	0.71461	-0.57;-0.57	3.76	3.76	0.43208	.	.	.	.	.	T	0.40196	0.1107	N	0.04132	-0.27	0.35408	D	0.792215	B;B;B	0.11235	0.003;0.004;0.002	B;B;B	0.18263	0.01;0.01;0.021	T	0.42666	-0.9438	9	0.02654	T	1	.	6.1864	0.20500	0.8788:0.0:0.1212:0.0	.	138;157;138	D3DWV2;Q59EV7;P48029	.;.;SC6A8_HUMAN	V	138;23	ENSP00000253122:M138V;ENSP00000403041:M23V	ENSP00000253122:M138V	M	+	1	0	SLC6A8	152609970	0.881000	0.30235	1.000000	0.80357	0.952000	0.60782	1.393000	0.34497	1.390000	0.46547	0.356000	0.21956	ATG		0.607	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061003.1			9	10	0	0	0	0.047766	0	9	10					G	152956776	A	G	152956776	3	3	224	1	0	0	0	0	1	0	0	0	14690	217	8	3	422	3	SLC6A8	23	152956776	Missense_Mutation	SNP	A	TCGA-EL-A3H4-01A-11D-A202-08		152956776	2313784	20	4721											
MAP3K6	9064	broad.mit.edu	37	chr1	27685202	27685202	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggcccaaagaggtctcacctGaaacatggcagcctgtgggc	13	12	1	2			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr1:27685202G>A	ENST00000493901.1	-	20	2820	c.2581C>T	c.(2581-2583)Cag>Tag	p.Q861*	MAP3K6_ENST00000357582.2_Nonsense_Mutation_p.Q861*|MAP3K6_ENST00000374040.3_Nonsense_Mutation_p.Q853*	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	861	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GGTCTCACCTGAAACATGGCA	0.617																																						ENST00000374040.3																			0				breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10						c.(2557-2559)Cag>Tag		mitogen-activated protein kinase kinase kinase 6							40	41	40					1																	27685202		2203	4300	6503	SO:0001587	stop_gained	9064				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity	g.chr1:27685202G>A	AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6858	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 2"	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.2581C>T	1.37:g.27685202G>A	ENSP00000419591:p.Gln861*					MAP3K6_ENST00000357582.2_Nonsense_Mutation_p.Q861*|MAP3K6_ENST00000493901.1_Nonsense_Mutation_p.Q861*	p.Q853*			O95382	M3K6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	18	2817	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	861			Protein kinase.		A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Nonsense_Mutation	SNP	ENST00000493901.1	37	c.2557C>T	CCDS299.1	.	.	.	.	.	.	.	.	.	.	G	42	9.303070	0.99130	.	.	ENSG00000142733	ENST00000374040;ENST00000493901;ENST00000545447;ENST00000357582	.	.	.	5.4	4.43	0.53597	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.0132	0.47675	0.0:0.0:0.6576:0.3424	.	.	.	.	X	853;861;584;861	.	ENSP00000350195:Q861X	Q	-	1	0	MAP3K6	27557789	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	4.472000	0.60189	2.547000	0.85894	0.561000	0.74099	CAG		0.617	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	NM_004672		18	45	0	0	0	0.006122	0	18	45					A	27685202	G	A	27685202	4	1	225	1	0	0	0	0	0	1	0	0	9254	1299	45	2	1329	2	MAP3K6	1	27685202	Nonsense_Mutation	SNP	G	TCGA-EL-A3H5-01A-11D-A202-08		27685202	221565419	1	4722											
ZNHIT6	54680	broad.mit.edu	37	chr1	86171801	86171801	+	Frame_Shift_Del	DEL	G	G	-													tcttcaaaaaagcatctctaGaaatatggtccgctgttctt							TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr1:86171801delG	ENST00000370574.3	-	4	1008	c.875delC	c.(874-876)tctfs	p.S292fs	ZNHIT6_ENST00000431532.2_Frame_Shift_Del_p.S253fs			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	292					box C/D snoRNP assembly (GO:0000492)|ribosome biogenesis (GO:0042254)	extracellular vesicular exosome (GO:0070062)|pre-snoRNP complex (GO:0070761)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						AGCATCTCTAGAAATATGGTC	0.313																																						ENST00000431532.2																			0				autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						c.(757-759)ttfs		zinc finger, HIT-type containing 6							58	58	58					1																	86171801		2199	4298	6497	SO:0001589	frameshift_variant	54680				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding	g.chr1:86171801delG	AL442074	CCDS707.1, CCDS53338.1	1p22.3	2013-01-17	2010-09-15	2008-06-23	ENSG00000117174	ENSG00000117174		"Zinc fingers, HIT-type"	26089	protein-coding gene	gene with protein product	"box C/D snoRNA essential 1 homolog (S. cerevisiae)"		"chromosome 1 open reading frame 181", "zinc finger, HIT type 6"	C1orf181		12747765	Standard	NM_017953		Approved	FLJ20729, NY-BR-75, BCD1	uc001dlh.3	Q9NWK9	OTTHUMG00000010576	ENST00000370574.3:c.875delC	1.37:g.86171801delG	ENSP00000359606:p.Ser292fs					ZNHIT6_ENST00000370574.3_Frame_Shift_Del_p.S292fs	p.S253fs	NM_001170670.1|NM_017953.3	NP_001164141.1|NP_060423.3	Q9NWK9	BCD1_HUMAN			5	906	-			292					B2RBA1|B4DP13|D3DT20|Q9H278|Q9H3X3|Q9NWN0	Frame_Shift_Del	DEL	ENST00000370574.3	37	c.758delC	CCDS707.1																																																																																				0.313	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029186.1	NM_017953		23	37						23	37	---	---	---	---	-	86171801	G	-	86171801	7	5	225	1	0	1	0	1	0	0	0	0	18206	942	33	0	565	0	ZNHIT6	1	86171801	Frame_Shift_Del	DEL	G	TCGA-EL-A3H5-01A-11D-A202-08	58486599	86171801	163078820	2	4723											
ASPM	259266	broad.mit.edu	37	chr1	197060037	197060037	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttacggaggagaaaatgGcgcactgctttctgtattac	10	7	1	1			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr1:197060037G>A	ENST00000367409.4	-	23	9835	c.9579C>T	c.(9577-9579)cgC>cgT	p.R3193R	ASPM_ENST00000294732.7_Silent_p.R1608R|ASPM_ENST00000367408.1_Silent_p.R858R	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3193	IQ 38. {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						GGAGAAAATGGCGCACTGCTT	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.(9577-9579)cgC>cgT		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							111	108	109					1																	197060037		2203	4300	6503	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197060037G>A	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.9579C>T	1.37:g.197060037G>A						ASPM_ENST00000294732.7_Silent_p.R1608R|ASPM_ENST00000367408.1_Silent_p.R858R	p.R3193R	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			23	9835	-			3193			IQ 38.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.9579C>T	CCDS1389.1																																																																																				0.353	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		15	86	0	0	0	0.006122	0	15	86					A	197060037	G	A	197060037	2	1	225	1	0	0	0	0	0	0	0	1	1056	1190	42	2		2	ASPM	1	197060037	Silent	SNP	G	TCGA-EL-A3H5-01A-11D-A202-08	110888236	197060037	52190584	3	4724											
HHAT	55733	broad.mit.edu	37	chr1	210591549	210591549	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcctgtgtgtcctggccCtggggctgggccgccttctt	14	15	1	0			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr1:210591549C>T	ENST00000367010.1	+	7	963	c.736C>T	c.(736-738)Ctg>Ttg	p.L246L	HHAT_ENST00000391905.3_Silent_p.L246L|HHAT_ENST00000308852.6_Silent_p.L201L|HHAT_ENST00000545781.1_Silent_p.L183L|HHAT_ENST00000545154.1_Silent_p.L247L|HHAT_ENST00000413764.2_Silent_p.L246L|HHAT_ENST00000537898.1_Silent_p.L181L|HHAT_ENST00000541565.1_Silent_p.L109L|HHAT_ENST00000261458.3_Silent_p.L246L	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	246					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		TGTCCTGGCCCTGGGGCTGGG	0.567																																						ENST00000367010.1																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(736-738)Ctg>Ttg		hedgehog acyltransferase							130	122	125					1																	210591549		2203	4300	6503	SO:0001819	synonymous_variant	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210591549C>T	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.736C>T	1.37:g.210591549C>T						HHAT_ENST00000308852.6_Silent_p.L201L|HHAT_ENST00000537898.1_Silent_p.L181L|HHAT_ENST00000261458.3_Silent_p.L246L|HHAT_ENST00000391905.3_Silent_p.L246L|HHAT_ENST00000545154.1_Silent_p.L247L|HHAT_ENST00000413764.2_Silent_p.L246L|HHAT_ENST00000545781.1_Silent_p.L183L|HHAT_ENST00000541565.1_Silent_p.L109L	p.L246L	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	7	963	+			246					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Silent	SNP	ENST00000367010.1	37	c.736C>T	CCDS1495.1																																																																																				0.567	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		50	165	0	0	0	0.01441	0	50	165					T	210591549	C	T	210591549	2	4	225	1	0	0	0	0	0	0	0	1	7089	680	24	2		2	HHAT	1	210591549	Silent	SNP	C	TCGA-EL-A3H5-01A-11D-A202-08	13531512	210591549	38659072	4	4725											
ZXDC	79364	broad.mit.edu	37	chr3	126189759	126189759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccacaggacactcgaacgGctttgtgcctaggtgggtta	12	10	0	0			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr3:126189759G>A	ENST00000389709.3	-	4	1302	c.1249C>T	c.(1249-1251)Ccg>Tcg	p.P417S	ZXDC_ENST00000336332.5_Missense_Mutation_p.P417S	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	417					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		CACTCGAACGGCTTTGTGCCT	0.463																																						ENST00000389709.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(1249-1251)Ccg>Tcg		ZXD family zinc finger C							115	123	120					3																	126189759		2198	4300	6498	SO:0001583	missense	79364				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:126189759G>A	AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"Zinc fingers, C2H2-type"	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.1249C>T	3.37:g.126189759G>A	ENSP00000374359:p.Pro417Ser					ZXDC_ENST00000336332.5_Missense_Mutation_p.P417S	p.P417S	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	4	1302	-			417					C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Missense_Mutation	SNP	ENST00000389709.3	37	c.1249C>T	CCDS43145.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643899	0.67244	.	.	ENSG00000070476	ENST00000389709;ENST00000336332	T;T	0.55930	0.49;0.49	4.61	4.61	0.57282	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.65386	0.2686	L	0.45228	1.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.68957	-0.5272	10	0.87932	D	0	-16.4777	15.2783	0.73760	0.0:0.0:1.0:0.0	.	417;417	Q2QGD7-2;Q2QGD7	.;ZXDC_HUMAN	S	417	ENSP00000374359:P417S;ENSP00000337694:P417S	ENSP00000337694:P417S	P	-	1	0	ZXDC	127672449	1.000000	0.71417	0.990000	0.47175	0.358000	0.29455	9.848000	0.99507	2.268000	0.75426	0.484000	0.47621	CCG		0.463	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2	NM_025112		33	89	0	0	0	0.007835	0	33	89					A	126189759	G	A	126189759	3	1	225	1	0	0	0	0	1	0	0	0	18249	1203	42	2	1361	2	ZXDC	3	126189759	Missense_Mutation	SNP	G	TCGA-EL-A3H5-01A-11D-A202-08		126189759	71832671	5	4726											
SENP5	205564	broad.mit.edu	37	chr3	196612456	196612456	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaatactgcagagagaaaaAtctcttgaaggcagttactg	10	6	1	4			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr3:196612456A>G	ENST00000323460.5	+	2	653	c.404A>G	c.(403-405)aAt>aGt	p.N135S	SENP5_ENST00000445299.2_Missense_Mutation_p.N135S|SENP5_ENST00000419026.1_Intron	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	135					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		AGAGAGAAAAATCTCTTGAAG	0.443																																					Ovarian(47;891 1095 11174 13858 51271)	ENST00000323460.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32						c.(403-405)aAt>aGt		SUMO1/sentrin specific peptidase 5							51	51	51					3																	196612456		2203	4300	6503	SO:0001583	missense	205564				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity	g.chr3:196612456A>G	BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"SUMO1/sentrin specific protease 5"			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.404A>G	3.37:g.196612456A>G	ENSP00000327197:p.Asn135Ser					SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Missense_Mutation_p.N135S	p.N135S	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)	2	653	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		135					B4DY82|Q96SA5	Missense_Mutation	SNP	ENST00000323460.5	37	c.404A>G	CCDS3322.1	.	.	.	.	.	.	.	.	.	.	A	0.021	-1.421382	0.01126	.	.	ENSG00000119231	ENST00000323460;ENST00000445299	T;T	0.20598	2.37;2.06	5.03	0.167	0.15006	.	0.562739	0.18465	N	0.140404	T	0.05502	0.0145	N	0.01874	-0.695	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.42949	-0.9421	10	0.02654	T	1	-2.2224	7.8168	0.29265	0.5783:0.0:0.4217:0.0	.	135;135	B4DY82;Q96HI0	.;SENP5_HUMAN	S	135	ENSP00000327197:N135S;ENSP00000390231:N135S	ENSP00000327197:N135S	N	+	2	0	SENP5	198096853	0.746000	0.28272	0.954000	0.39281	0.857000	0.48899	1.021000	0.30040	0.085000	0.17107	-0.242000	0.12053	AAT		0.443	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	NM_152699		21	58	0	0	0	0.00278	0	21	58					G	196612456	A	G	196612456	3	3	225	1	0	0	0	0	1	0	0	0	14049	101	4	3	406	3	SENP5	3	196612456	Missense_Mutation	SNP	A	TCGA-EL-A3H5-01A-11D-A202-08	70422697	196612456	1409974	6	4727											
ZNF311	282890	broad.mit.edu	37	chr6	28963566	28963566	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagtgtggattcttatgtGtttggtgaggtctgaactcc	12	8	2	2			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr6:28963566G>A	ENST00000377179.3	-	7	1725	c.1213C>T	c.(1213-1215)Cac>Tac	p.H405Y	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	405					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						ATTCTTATGTGTTTGGTGAGG	0.512																																						ENST00000377179.3																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						c.(1213-1215)Cac>Tac		zinc finger protein 311							85	80	82					6																	28963566		1510	2708	4218	SO:0001583	missense	282890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:28963566G>A	AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"Zinc fingers, C2H2-type", "-"	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.1213C>T	6.37:g.28963566G>A	ENSP00000366384:p.His405Tyr					ZNF311_ENST00000483450.1_5'UTR	p.H405Y	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN			7	1725	-			405					A2BFK5|B0S7Y4|Q92971	Missense_Mutation	SNP	ENST00000377179.3	37	c.1213C>T	CCDS34357.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870876	0.72065	.	.	ENSG00000197935	ENST00000377179;ENST00000535083	D	0.86769	-2.17	3.57	3.57	0.40892	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94371	0.8190	H	0.95365	3.66	0.35989	D	0.836552	D	0.89917	1.0	D	0.83275	0.996	D	0.95764	0.8803	9	0.87932	D	0	-4.4926	13.4785	0.61322	0.0:0.0:1.0:0.0	.	405	Q5JNZ3	ZN311_HUMAN	Y	405;313	ENSP00000366384:H405Y	ENSP00000366384:H405Y	H	-	1	0	ZNF311	29071545	1.000000	0.71417	0.845000	0.33349	0.843000	0.47879	8.189000	0.89712	1.928000	0.55862	0.585000	0.79938	CAC		0.512	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076631.3	XM_212581		12	40	0	0	0	0.010729	0	12	40					A	28963566	G	A	28963566	3	1	225	1	0	0	0	0	1	0	0	0	17831	1377	48	2	791	2	ZNF311	6	28963566	Missense_Mutation	SNP	G	TCGA-EL-A3H5-01A-11D-A202-08		28963566	142151501	7	4728											
ZBTB22	9278	broad.mit.edu	37	chr6	33282984	33282984	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtacggccccgaccccGcccaggcggtgccggcgctc	14	20	0	0			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr6:33282984G>A	ENST00000431845.2	-	2	1861	c.1710C>T	c.(1708-1710)ggC>ggT	p.G570G	ZBTB22_ENST00000418724.1_Silent_p.G570G|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	570					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)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CCCCGACCCCGCCCAGGCGGT	0.687																																						ENST00000431845.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						c.(1708-1710)ggC>ggT		zinc finger and BTB domain containing 22							25	28	27					6																	33282984		2198	4292	6490	SO:0001819	synonymous_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33282984G>A	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13085	protein-coding gene	gene with protein product		611439	"zinc finger protein 297"	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.1710C>T	6.37:g.33282984G>A						ZBTB22_ENST00000418724.1_Silent_p.G570G	p.G570G	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN			2	1861	-			570					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Silent	SNP	ENST00000431845.2	37	c.1710C>T	CCDS4775.1																																																																																				0.687	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			18	62	0	0	0	0.007413	0	18	62					A	33282984	G	A	33282984	2	1	225	1	0	0	0	0	0	0	0	1	17527	1074	38	1		1	ZBTB22	6	33282984	Silent	SNP	G	TCGA-EL-A3H5-01A-11D-A202-08	4319418	33282984	137832083	8	4729											
POM121L12	285877	broad.mit.edu	37	chr7	53104067	53104067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcgtgcccaggccagggCctctgaagccgagcctcggc	13	17	1	1			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr7:53104067C>T	ENST00000408890.4	+	1	719	c.703C>T	c.(703-705)Cct>Tct	p.P235S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	235										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CAGGCCAGGGCCTCTGAAGCC	0.642																																						ENST00000408890.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(703-705)Cct>Tct		POM121 transmembrane nucleoporin-like 12							42	50	47					7																	53104067		1960	4135	6095	SO:0001583	missense	285877							g.chr7:53104067C>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.703C>T	7.37:g.53104067C>T	ENSP00000386133:p.Pro235Ser						p.P235S	NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN			1	719	+			235					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.703C>T	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	C	3.280	-0.147274	0.06627	.	.	ENSG00000221900	ENST00000408890	T	0.14391	2.51	2.16	1.26	0.21427	.	.	.	.	.	T	0.14013	0.0339	N	0.26042	0.785	0.09310	N	1	D	0.60160	0.987	P	0.57283	0.817	T	0.20739	-1.0266	9	0.18276	T	0.48	.	4.7581	0.13093	0.0:0.8156:0.0:0.1844	.	235	Q8N7R1	P1L12_HUMAN	S	235	ENSP00000386133:P235S	ENSP00000386133:P235S	P	+	1	0	POM121L12	53071561	0.000000	0.05858	0.064000	0.19789	0.352000	0.29268	0.119000	0.15626	0.488000	0.27723	-0.258000	0.10820	CCT		0.642	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		19	69	0	0	0	0.008871	0	19	69					T	53104067	C	T	53104067	3	4	225	1	0	0	0	0	1	0	0	0	12241	739	26	2	705	2	POM121L12	7	53104067	Missense_Mutation	SNP	C	TCGA-EL-A3H5-01A-11D-A202-08		53104067	106034596	9	4730											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		25	65	0	0	0	0.003954	0	25	65					T	140453136	A	T	140453136	3	4	225	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3H5-01A-11D-A202-08	87349069	140453136	18685527	10	4731											
LONRF1	91694	broad.mit.edu	37	chr8	12580704	12580704	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaccgacagctggtatcgTgggtctacagggagaactgc	13	9	1	1			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr8:12580704T>C	ENST00000398246.3	-	12	2292	c.2223A>G	c.(2221-2223)ccA>ccG	p.P741P	LONRF1_ENST00000533751.1_Silent_p.P384P|LONRF1_ENST00000525024.1_Silent_p.P167P	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	741	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		GCTGGTATCGTGGGTCTACAG	0.418																																						ENST00000398246.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						c.(2221-2223)ccA>ccG		LON peptidase N-terminal domain and ring finger 1							133	138	136					8																	12580704		1941	4125	6066	SO:0001819	synonymous_variant	91694				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr8:12580704T>C	AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"RING-type (C3HC4) zinc fingers"	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.2223A>G	8.37:g.12580704T>C						LONRF1_ENST00000533751.1_Silent_p.P384P|LONRF1_ENST00000525024.1_Silent_p.P167P	p.P741P	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN		READ - Rectum adenocarcinoma(644;0.236)	12	2292	-			741			Lon.		B4DM29|B4DU84|Q8TEA0|Q9BSV1	Silent	SNP	ENST00000398246.3	37	c.2223A>G	CCDS5987.2																																																																																				0.418	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251693.2	NM_152271		46	135	0	0	0	0.01441	0	46	135					C	12580704	T	C	12580704	2	2	225	1	0	0	0	0	0	0	0	1	8894	1683	59	3		3	LONRF1	8	12580704	Silent	SNP	T	TCGA-EL-A3H5-01A-11D-A202-08		12580704	133783318	11	4732											
ALDH1B1	219	broad.mit.edu	37	chr9	38396762	38396762	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgagtttctcgagagaacCgtggagaaagcaaagcagag	13	6	1	4			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr9:38396762C>T	ENST00000377698.3	+	2	1170	c.1017C>T	c.(1015-1017)acC>acT	p.T339T		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	339					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		TCGAGAGAACCGTGGAGAAAG	0.557																																						ENST00000377698.3																			0				NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32						c.(1015-1017)acC>acT		aldehyde dehydrogenase 1 family, member B1	NADH(DB00157)						49	55	53					9																	38396762		2203	4300	6503	SO:0001819	synonymous_variant	219				carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	g.chr9:38396762C>T	M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"Aldehyde dehydrogenases"	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.1017C>T	9.37:g.38396762C>T							p.T339T	NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN		GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	2	1170	+			339					B2R8F0|Q8WX76|Q9BV45	Silent	SNP	ENST00000377698.3	37	c.1017C>T	CCDS6615.1																																																																																				0.557	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			26	42	0	0	0	0.005443	0	26	42					T	38396762	C	T	38396762	2	4	225	1	0	0	0	0	0	0	0	1	493	639	23	1		1	ALDH1B1	9	38396762	Silent	SNP	C	TCGA-EL-A3H5-01A-11D-A202-08		38396762	102816669	12	4733											
C11orf87	399947	broad.mit.edu	37	chr11	109294460	109294460	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcggcagcggcaacacggGtgcccgcggcccaggcgcag	17	16	0	0			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr11:109294460G>T	ENST00000327419.6	+	2	504	c.101G>T	c.(100-102)gGt>gTt	p.G34V	RP11-708B6.2_ENST00000532992.1_RNA|RP11-708B6.2_ENST00000532929.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	34						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						GGCAACACGGGTGCCCGCGGC	0.672																																						ENST00000327419.6																			0				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(100-102)gGt>gTt		chromosome 11 open reading frame 87							55	49	51					11																	109294460		2197	4297	6494	SO:0001583	missense	399947					integral to membrane		g.chr11:109294460G>T	AB096240, BC035798	CCDS31672.1	11q22.3	2013-12-13	2013-12-13	2013-12-13	ENSG00000185742	ENSG00000185742			33788	protein-coding gene	gene with protein product	"neuronal integral membrane protein 1"					12477932	Standard	NM_207645		Approved	LOH11CR1A, LOC399947, NEURIM1	uc010rwb.2	Q6NUJ2		ENST00000327419.6:c.101G>T	11.37:g.109294460G>T	ENSP00000331581:p.Gly34Val					RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA	p.G34V	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN			2	504	+			34					B4E169	Missense_Mutation	SNP	ENST00000327419.6	37	c.101G>T	CCDS31672.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.291968	0.23564	.	.	ENSG00000185742	ENST00000327419	.	.	.	3.66	2.75	0.32379	.	0.944717	0.08631	U	0.917077	T	0.26882	0.0658	N	0.14661	0.345	0.09310	N	0.999991	B	0.12630	0.006	B	0.11329	0.006	T	0.23048	-1.0199	9	0.66056	D	0.02	.	7.1432	0.25568	0.1269:0.0:0.8731:0.0	.	34	Q6NUJ2	CK087_HUMAN	V	34	.	ENSP00000331581:G34V	G	+	2	0	C11orf87	108799670	.	.	0.003000	0.11579	0.038000	0.13279	.	.	0.907000	0.36646	-0.379000	0.06801	GGT		0.672	C11orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390403.1	NM_207645		12	32	1	0	2.27111e-07	0.013537	3.84827e-07	12	32					T	109294460	G	T	109294460	3	4	225	1	0	0	0	0	1	0	0	0	1669	1261	44	4	103	4	C11orf87	11	109294460	Missense_Mutation	SNP	G	TCGA-EL-A3H5-01A-11D-A202-08		109294460	25712056	13	4734											
BRCA2	675	broad.mit.edu	37	chr13	32937551	32937551	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agttagatcctcccctcttaGctgtcttaaagaatggcaga	8	10	2	3			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr13:32937551G>T	ENST00000380152.3	+	18	8445	c.8212G>T	c.(8212-8214)Gct>Tct	p.A2738S	BRCA2_ENST00000544455.1_Missense_Mutation_p.A2738S			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2738					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			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		Lung SC(185;0.0262)		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)		TCCCCTCTTAGCTGTCTTAAA	0.458			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	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	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 2			"L, E"		"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.(8212-8214)Gct>Tct	Homologous recombination	breast cancer 2, early onset							129	123	125					13																	32937551		2203	4300	6503	SO:0001583	missense	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	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	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.chr13:32937551G>T	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.8212G>T	13.37:g.32937551G>T	ENSP00000369497:p.Ala2738Ser	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.A2738S	p.A2738S	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)	18	8439	+		Lung SC(185;0.0262)	2738					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.8212G>T	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.505659	0.44558	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.80214	-1.35;-1.35	5.49	4.64	0.57946	Nucleic acid-binding, OB-fold-like (1);BRCA2, oligonucleotide/oligosaccharide-binding 1 (1);	0.236160	0.42294	D	0.000723	T	0.77678	0.4166	L	0.48218	1.51	0.39658	D	0.970577	P	0.35821	0.523	B	0.43018	0.405	T	0.76233	-0.3034	10	0.38643	T	0.18	.	9.7781	0.40632	0.0727:0.0:0.7872:0.14	.	2738	P51587	BRCA2_HUMAN	S	2738	ENSP00000369497:A2738S;ENSP00000439902:A2738S	ENSP00000369497:A2738S	A	+	1	0	BRCA2	31835551	0.994000	0.37717	0.013000	0.15412	0.896000	0.52359	4.327000	0.59247	1.321000	0.45227	0.313000	0.20887	GCT		0.458	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		27	80	1	0	1.17739e-12	0.005443	2.17639e-12	27	80					T	32937551	G	T	32937551	3	4	225	1	0	0	0	0	1	0	0	0	1499	971	34	4	8278	4	BRCA2	13	32937551	Missense_Mutation	SNP	G	TCGA-EL-A3H5-01A-11D-A202-08		32937551	82232327	14	4735											
NYNRIN	57523	broad.mit.edu	37	chr14	24877450	24877450	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaggagctgctgctgagcCtggtgcgggatgctgcgggc	18	11	0	1			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr14:24877450C>T	ENST00000382554.3	+	3	892	c.574C>T	c.(574-576)Ctg>Ttg	p.L192L		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	192					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GCTGCTGAGCCTGGTGCGGGA	0.652																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(574-576)Ctg>Ttg		NYN domain and retroviral integrase containing							19	25	23					14																	24877450		2078	4207	6285	SO:0001819	synonymous_variant	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24877450C>T	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.574C>T	14.37:g.24877450C>T							p.L192L	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			3	892	+			192					Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	37	c.574C>T	CCDS45090.1																																																																																				0.652	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			6	15	0	0	0	0.001984	0	6	15					T	24877450	C	T	24877450	2	4	225	1	0	0	0	0	0	0	0	1	10796	680	24	2		2	NYNRIN	14	24877450	Silent	SNP	C	TCGA-EL-A3H5-01A-11D-A202-08		24877450	82472090	15	4736											
STOML1	9399	broad.mit.edu	37	chr15	74282792	74282792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggagggccagctctggGgtacatctgcaggtgagagc	18	9	2	1			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr15:74282792G>A	ENST00000316900.5	-	2	264	c.140C>T	c.(139-141)cCc>cTc	p.P47L	STOML1_ENST00000359750.4_Missense_Mutation_p.P47L|STOML1_ENST00000561656.1_5'UTR|STOML1_ENST00000316911.6_Missense_Mutation_p.P47L|STOML1_ENST00000564777.1_Missense_Mutation_p.P47L|STOML1_ENST00000541638.1_Missense_Mutation_p.P5L	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	47						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						CCAGCTCTGGGGTACATCTGC	0.582																																						ENST00000316900.5																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						c.(139-141)cCc>cTc		stomatin (EPB72)-like 1							67	62	64					15																	74282792		2197	4296	6493	SO:0001583	missense	9399					integral to membrane	sterol binding	g.chr15:74282792G>A	Y16522	CCDS10254.1, CCDS58381.1, CCDS58382.1, CCDS58383.1, CCDS58384.1, CCDS58385.1	15q24-q25	2008-07-18			ENSG00000067221	ENSG00000067221			14560	protein-coding gene	gene with protein product	"stomatin-like 1", "stomatin (EBP72)-like 1"	608326				9931417	Standard	NM_004809		Approved	hUNC-24, SLP-1, STORP, FLJ36370	uc002awe.4	Q9UBI4	OTTHUMG00000137608	ENST00000316900.5:c.140C>T	15.37:g.74282792G>A	ENSP00000319323:p.Pro47Leu					STOML1_ENST00000359750.4_Missense_Mutation_p.P47L|STOML1_ENST00000316911.6_Missense_Mutation_p.P47L|STOML1_ENST00000561656.1_5'UTR|STOML1_ENST00000541638.1_Missense_Mutation_p.P5L|STOML1_ENST00000564777.1_Missense_Mutation_p.P47L	p.P47L	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN			2	264	-			47					B3KQN0|B4DUU5|B4DXM9|E7ESC0|H3BRP3|O95675|Q4PNR4|Q6FGL8|Q8WYI7|Q9UMB9|Q9UMC0|Q9Y6H9	Missense_Mutation	SNP	ENST00000316900.5	37	c.140C>T	CCDS10254.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641379	0.47153	.	.	ENSG00000067221	ENST00000316900;ENST00000316911;ENST00000541638;ENST00000359750	D;D;D;D	0.97138	-2.96;-2.59;-3.02;-4.26	5.01	4.03	0.46877	.	0.728052	0.12862	N	0.433019	D	0.94291	0.8166	N	0.24115	0.695	0.43673	D	0.9961	P;P;P;P;P;P	0.46142	0.799;0.842;0.873;0.842;0.651;0.651	B;B;P;B;B;B	0.44990	0.343;0.236;0.466;0.236;0.165;0.165	D	0.93515	0.6856	10	0.66056	D	0.02	-7.1209	12.548	0.56212	0.0:0.1691:0.8309:0.0	.	5;47;47;47;47;47	B4DUU5;E7ESC0;Q9UBI4-2;Q4PNR4;Q53HB6;Q9UBI4	.;.;.;.;.;STML1_HUMAN	L	47;47;5;47	ENSP00000319323:P47L;ENSP00000319384:P47L;ENSP00000442478:P5L;ENSP00000352788:P47L	ENSP00000319323:P47L	P	-	2	0	STOML1	72069845	1.000000	0.71417	0.528000	0.27938	0.599000	0.36880	6.317000	0.72862	2.338000	0.79540	0.555000	0.69702	CCC		0.582	STOML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269022.1	NM_004809		3	25	0	0	0	0.004672	0	3	25					A	74282792	G	A	74282792	3	1	225	1	0	0	0	0	1	0	0	0	15312	1232	43	2	1080	2	STOML1	15	74282792	Missense_Mutation	SNP	G	TCGA-EL-A3H5-01A-11D-A202-08		74282792	28248600	16	4737											
ARID3B	10620	broad.mit.edu	37	chr15	74883967	74883967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcccgtgaccttggcaaGccagcaggctggtactcgga	14	12	0	1			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr15:74883967G>A	ENST00000346246.5	+	7	1463	c.1232G>A	c.(1231-1233)aGc>aAc	p.S411N		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	411						nucleus (GO:0005634)	DNA binding (GO:0003677)|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)|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 positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						ACCTTGGCAAGCCAGCAGGCT	0.617																																						ENST00000346246.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						c.(1231-1233)aGc>aAc		AT rich interactive domain 3B (BRIGHT-like)							15	18	17					15																	74883967		2195	4294	6489	SO:0001583	missense	10620				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr15:74883967G>A		CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"-"	14350	protein-coding gene	gene with protein product		612457	"AT rich interactive domain 3B (BRIGHT- like)"				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.1232G>A	15.37:g.74883967G>A	ENSP00000343126:p.Ser411Asn						p.S411N	NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN			7	1463	+			411					O95443|Q59HC9|Q6P9C9	Missense_Mutation	SNP	ENST00000346246.5	37	c.1232G>A	CCDS10264.1	.	.	.	.	.	.	.	.	.	.	G	6.729	0.503219	0.12822	.	.	ENSG00000179361	ENST00000382537;ENST00000346246;ENST00000395077	T	0.50001	0.76	5.31	3.38	0.38709	.	0.685163	0.14864	N	0.293890	T	0.36552	0.0971	L	0.40543	1.245	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.23440	-1.0188	10	0.34782	T	0.22	-3.3785	8.115	0.30937	0.2043:0.1193:0.6764:0.0	.	411;411;411	B4DXL8;Q8IVW6;Q8IVW6-4	.;ARI3B_HUMAN;.	N	411	ENSP00000343126:S411N	ENSP00000343126:S411N	S	+	2	0	ARID3B	72671020	0.051000	0.20477	0.386000	0.26170	0.231000	0.25187	1.484000	0.35508	0.228000	0.21019	-0.797000	0.03246	AGC		0.617	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2	NM_006465		8	7	0	0	0	0.004482	0	8	7					A	74883967	G	A	74883967	3	1	225	1	0	0	0	0	1	0	0	0	917	971	34	2	1254	2	ARID3B	15	74883967	Missense_Mutation	SNP	G	TCGA-EL-A3H5-01A-11D-A202-08	601175	74883967	27647425	17	4738											
MESDC2	23184	broad.mit.edu	37	chr15	81282072	81282072	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtagcagtagcagcagcaGcagcaggtcagaggcacaaa	14	9	1	1			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr15:81282072G>A	ENST00000261758.4	-	1	147	c.61C>T	c.(61-63)Ctg>Ttg	p.L21L	RP11-775C24.3_ENST00000563737.1_lincRNA	NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	21	Chaperone domain. {ECO:0000250}.				mesoderm development (GO:0007498)|protein folding (GO:0006457)|protein localization to cell surface (GO:0034394)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						agcagcagcagcagcagGTCA	0.682																																						ENST00000261758.4																			0				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						c.(61-63)Ctg>Ttg		mesoderm development candidate 2							25	24	24					15																	81282072		2201	4298	6499	SO:0001819	synonymous_variant	23184				mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum		g.chr15:81282072G>A	D42039	CCDS32308.1	15q13	2008-07-18							13520	protein-coding gene	gene with protein product		607783				7788527, 11247670	Standard	NM_015154		Approved	KIAA0081, BOCA, MESD	uc002bfy.1	Q14696		ENST00000261758.4:c.61C>T	15.37:g.81282072G>A							p.L21L	NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN			1	147	-			21			Chaperone domain (By similarity).		B4DW84|D3DW96|Q969U1	Silent	SNP	ENST00000261758.4	37	c.61C>T	CCDS32308.1																																																																																				0.682	MESDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417673.2	NM_015154		4	18	0	0	0	0.009096	0	4	18					A	81282072	G	A	81282072	2	1	225	1	0	0	0	0	0	0	0	1	9481	962	34	2		2	MESDC2	15	81282072	Silent	SNP	G	TCGA-EL-A3H5-01A-11D-A202-08	6398105	81282072	21249320	18	4739											
PIK3R5	23533	broad.mit.edu	37	chr17	8789831	8789831	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcagcaccggtctggcgGcaaagcggcagtagtagagt	16	10	1	1			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr17:8789831G>A	ENST00000447110.1	-	13	2121	c.1997C>T	c.(1996-1998)gCc>gTc	p.A666V	PIK3R5_ENST00000581552.1_Missense_Mutation_p.A666V|PIK3R5_ENST00000584803.1_Missense_Mutation_p.A665V	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	666	Interaction with beta-gamma G protein dimers. {ECO:0000250}.				blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CGGTCTGGCGGCAAAGCGGCA	0.662																																					NSCLC(18;589 615 7696 20311 50332)	ENST00000447110.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(1996-1998)gCc>gTc		phosphoinositide-3-kinase, regulatory subunit 5							54	60	58					17																	8789831		2203	4300	6503	SO:0001583	missense	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8789831G>A	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.1997C>T	17.37:g.8789831G>A	ENSP00000392812:p.Ala666Val					PIK3R5_ENST00000584803.1_Missense_Mutation_p.A665V|PIK3R5_ENST00000581552.1_Missense_Mutation_p.A666V	p.A666V	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN			13	2121	-			666			Interaction with G beta gamma proteins (By similarity).		B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	c.1997C>T	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744802	0.49151	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	D	0.81499	-1.5	4.78	3.73	0.42828	.	0.115341	0.64402	D	0.000018	D	0.83714	0.5314	L	0.34521	1.04	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.85647	0.1280	10	0.72032	D	0.01	-17.27	14.0102	0.64490	0.0:0.1527:0.8473:0.0	.	666	Q8WYR1	PI3R5_HUMAN	V	666	ENSP00000392812:A666V	ENSP00000269300:A666V	A	-	2	0	PIK3R5	8730556	1.000000	0.71417	0.875000	0.34327	0.915000	0.54546	6.068000	0.71201	2.199000	0.70637	0.313000	0.20887	GCC		0.662	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		4	86	0	0	0	0.009096	0	4	86					A	8789831	G	A	8789831	3	1	225	1	0	0	0	0	1	0	0	0	11922	1203	42	2	673	2	PIK3R5	17	8789831	Missense_Mutation	SNP	G	TCGA-EL-A3H5-01A-11D-A202-08		8789831	72405379	19	4740											
TOM1L2	146691	broad.mit.edu	37	chr17	17766051	17766051	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggccccacatacgtcttgCgctgctcagccaaggagttt	12	13	2	0			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr17:17766051C>T	ENST00000379504.3	-	11	1279	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H	TOM1L2_ENST00000535933.1_Missense_Mutation_p.R346H|TOM1L2_ENST00000581396.1_Missense_Mutation_p.R349H|TOM1L2_ENST00000542206.1_Missense_Mutation_p.R251H|TOM1L2_ENST00000478943.1_Missense_Mutation_p.R132H|TOM1L2_ENST00000318094.10_Missense_Mutation_p.R354H|TOM1L2_ENST00000577517.1_5'Flank|TOM1L2_ENST00000540946.1_Missense_Mutation_p.R301H|TOM1L2_ENST00000395739.4_Missense_Mutation_p.R354H	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	399					intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	clathrin binding (GO:0030276)|protein kinase binding (GO:0019901)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					ATACGTCTTGCGCTGCTCAGC	0.527																																					Melanoma(192;2505 2909 14455 25269)	ENST00000581396.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10						c.(1045-1047)cGc>cAc		target of myb1-like 2 (chicken)							187	196	193					17																	17766051		2203	4300	6503	SO:0001583	missense	146691				intracellular protein transport	intracellular		g.chr17:17766051C>T	AJ230803	CCDS32584.1, CCDS42270.1, CCDS74000.1, CCDS74001.1, CCDS74002.1, CCDS74003.1	17p11.2	2008-07-03	2001-11-28		ENSG00000175662	ENSG00000175662			11984	protein-coding gene	gene with protein product		615519	"target of myb1 (chicken) homolog-like 1"			10036180	Standard	NM_001082968		Approved		uc002grz.4	Q6ZVM7	OTTHUMG00000059353	ENST00000379504.3:c.1196G>A	17.37:g.17766051C>T	ENSP00000368818:p.Arg399His					TOM1L2_ENST00000542206.1_Missense_Mutation_p.R251H|TOM1L2_ENST00000540946.1_Missense_Mutation_p.R301H|TOM1L2_ENST00000535933.1_Missense_Mutation_p.R346H|TOM1L2_ENST00000395739.4_Missense_Mutation_p.R354H|TOM1L2_ENST00000478943.1_Missense_Mutation_p.R132H|TOM1L2_ENST00000379504.3_Missense_Mutation_p.R399H|TOM1L2_ENST00000318094.10_Missense_Mutation_p.R354H	p.R349H	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN			10	1142	-	all_neural(463;0.228)		399					B7Z2L7|B7Z7F4|Q86V61|Q8TDE7|Q96M88	Missense_Mutation	SNP	ENST00000379504.3	37	c.1046G>A	CCDS42270.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564552	0.86439	.	.	ENSG00000175662	ENST00000379504;ENST00000318094;ENST00000395739;ENST00000535933;ENST00000540946;ENST00000542206	T;T;T;T;T	0.50277	1.8;1.78;1.74;1.73;0.75	5.88	1.72	0.24424	.	0.216900	0.49305	N	0.000150	T	0.55497	0.1924	L	0.48362	1.52	0.47698	D	0.999497	B;P;D;D;B;B	0.89917	0.066;0.698;1.0;0.999;0.049;0.082	B;B;D;D;B;B	0.71414	0.01;0.098;0.973;0.923;0.006;0.014	T	0.45760	-0.9239	10	0.32370	T	0.25	-7.2771	10.4987	0.44794	0.0:0.7416:0.0:0.2584	.	301;251;346;354;399;349	B7Z2U2;F5H3S6;B7Z2L7;Q6ZVM7-3;Q6ZVM7;Q6ZVM7-2	.;.;.;.;TM1L2_HUMAN;.	H	399;349;354;346;301;251	ENSP00000368818:R399H;ENSP00000379088:R354H;ENSP00000438621:R346H;ENSP00000437655:R301H;ENSP00000445188:R251H	ENSP00000312860:R349H	R	-	2	0	TOM1L2	17706776	0.996000	0.38824	0.965000	0.40720	0.969000	0.65631	2.836000	0.48183	0.116000	0.18110	0.655000	0.94253	CGC		0.527	TOM1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131928.1			5	360	0	0	0	0.000602	0	5	360					T	17766051	C	T	17766051	3	4	225	1	0	0	0	0	1	0	0	0	16350	768	27	1	347	1	TOM1L2	17	17766051	Missense_Mutation	SNP	C	TCGA-EL-A3H5-01A-11D-A202-08	8976220	17766051	63429159	20	4741											
KRT36	8689	broad.mit.edu	37	chr17	39643690	39643690	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctggcagcactgcagctgCtccgagctggacaccacctg	12	15	1	0			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr17:39643690C>T	ENST00000328119.6	-	5	899	c.900G>A	c.(898-900)gaG>gaA	p.E300E	KRT36_ENST00000393986.2_Silent_p.E250E	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	300	Coil 2.|Rod.				regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				ACTGCAGCTGCTCCGAGCTGG	0.587																																						ENST00000393986.2																			0				breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17						c.(748-750)gaG>gaA		keratin 36							71	55	61					17																	39643690		2203	4300	6503	SO:0001819	synonymous_variant	8689					intermediate filament	protein binding|structural constituent of epidermis	g.chr17:39643690C>T	Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"-", "Intermediate filaments type I, keratins (acidic)"	6454	protein-coding gene	gene with protein product		604540	"keratin, hair, acidic, 6"	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.900G>A	17.37:g.39643690C>T						KRT36_ENST00000328119.6_Silent_p.E300E	p.E250E			O76013	KRT36_HUMAN			6	962	-		Breast(137;0.000286)	300			Linker 12.|Rod.		Q86XG4	Silent	SNP	ENST00000328119.6	37	c.750G>A	CCDS11395.1																																																																																				0.587	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259508.1	NM_003771		7	34	0	0	0	0.001984	0	7	34					T	39643690	C	T	39643690	2	4	225	1	0	0	0	0	0	0	0	1	8473	796	28	2		2	KRT36	17	39643690	Silent	SNP	C	TCGA-EL-A3H5-01A-11D-A202-08	21877639	39643690	41551520	21	4742											
AOC3	8639	broad.mit.edu	37	chr17	41008397	41008397	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggcttcttcctccgacccTataacttctttgacgaagac	7	13	2	2			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr17:41008397T>C	ENST00000308423.2	+	4	2282	c.2122T>C	c.(2122-2124)Tat>Cat	p.Y708H	AOC3_ENST00000591562.1_Missense_Mutation_p.Y165H	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	708					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CCTCCGACCCTATAACTTCTT	0.572																																					NSCLC(3;192 220 10664 11501 16477)	ENST00000308423.2																			0				breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41						c.(2122-2124)Tat>Cat		amine oxidase, copper containing 3	Hydralazine(DB01275)|Phenelzine(DB00780)						84	83	83					17																	41008397		2203	4300	6503	SO:0001583	missense	8639				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:41008397T>C	AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"vascular adhesion protein 1"	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.2122T>C	17.37:g.41008397T>C	ENSP00000312326:p.Tyr708His					AOC3_ENST00000591562.1_Missense_Mutation_p.Y165H	p.Y708H	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	4	2282	+		Breast(137;0.000143)	708					B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	ENST00000308423.2	37	c.2122T>C	CCDS11444.1	.	.	.	.	.	.	.	.	.	.	T	17.15	3.315582	0.60524	.	.	ENSG00000131471	ENST00000308423	T	0.03580	3.88	4.91	4.91	0.64330	Copper amine oxidase, C-terminal (3);	0.066891	0.64402	D	0.000009	T	0.09113	0.0225	L	0.38838	1.175	0.43890	D	0.996515	D	0.54397	0.966	D	0.64237	0.923	T	0.48422	-0.9037	10	0.13470	T	0.59	.	14.6957	0.69121	0.0:0.0:0.0:1.0	.	708	Q16853	AOC3_HUMAN	H	708	ENSP00000312326:Y708H	ENSP00000312326:Y708H	Y	+	1	0	AOC3	38261923	0.978000	0.34361	1.000000	0.80357	0.988000	0.76386	2.072000	0.41510	2.061000	0.61500	0.459000	0.35465	TAT		0.572	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734		3	138	0	0	0	0.004672	0	3	138					C	41008397	T	C	41008397	3	2	225	1	0	0	0	0	1	0	0	0	728	1522	53	3	2136	3	AOC3	17	41008397	Missense_Mutation	SNP	T	TCGA-EL-A3H5-01A-11D-A202-08	1364707	41008397	40186813	22	4743											
ABCA6	23460	broad.mit.edu	37	chr17	67102297	67102297	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagagaaggaagagtgagcCagctccatttcattgaggct	12	8	2	4			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr17:67102297C>A	ENST00000284425.2	-	19	2619	c.2445G>T	c.(2443-2445)ctG>ctT	p.L815L		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	815					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AAGAGTGAGCCAGCTCCATTT	0.413																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(2443-2445)ctG>ctT		ATP-binding cassette, sub-family A (ABC1), member 6							114	102	106					17																	67102297		2203	4300	6503	SO:0001819	synonymous_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67102297C>A	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"ATP binding cassette transporters / subfamily A"	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.2445G>T	17.37:g.67102297C>A							p.L815L	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			19	2619	-	Breast(10;5.65e-12)		815					Q6NSH9|Q8N856|Q8WWZ6	Silent	SNP	ENST00000284425.2	37	c.2445G>T	CCDS11683.1																																																																																				0.413	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		17	60	1	0	1.33834e-09	0.007413	2.33253e-09	17	60					A	67102297	C	A	67102297	2	1	225	1	0	0	0	0	0	0	0	1	36	581	21	4		4	ABCA6	17	67102297	Silent	SNP	C	TCGA-EL-A3H5-01A-11D-A202-08	26093900	67102297	14092913	23	4744											
SEMA6B	10501	broad.mit.edu	37	chr19	4552537	4552537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtagaaatgggagtctcCgggtacagagcagttgagcc	15	7	1	3			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr19:4552537C>T	ENST00000586582.1	-	10	1196	c.886G>A	c.(886-888)Gga>Aga	p.G296R	SEMA6B_ENST00000586965.1_Missense_Mutation_p.G296R|SEMA6B_ENST00000301293.3_Missense_Mutation_p.G296R	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	296	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGAGTCTCCGGGTACAGAG	0.652																																						ENST00000586582.1																			0				breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(886-888)Gga>Aga		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B							29	26	27					19																	4552537		2201	4299	6500	SO:0001583	missense	10501				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr19:4552537C>T	AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"Semaphorins"	10739	protein-coding gene	gene with protein product	"Sema VIb", "semaphorin Z", "semaphorin VIB"	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.886G>A	19.37:g.4552537C>T	ENSP00000467290:p.Gly296Arg					SEMA6B_ENST00000301293.3_Missense_Mutation_p.G296R|SEMA6B_ENST00000586965.1_Missense_Mutation_p.G296R	p.G296R	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	10	1196	-		Hepatocellular(1079;0.137)	296			Sema.		A5PKU4|F6IB19|Q9NRK9	Missense_Mutation	SNP	ENST00000586582.1	37	c.886G>A	CCDS12131.1	.	.	.	.	.	.	.	.	.	.	.	23.0	4.360711	0.82353	.	.	ENSG00000167680	ENST00000301293;ENST00000301292	T	0.28666	1.6	4.24	4.24	0.50183	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	U	0.000000	T	0.67031	0.2850	H	0.95780	3.72	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79047	-0.1963	10	0.87932	D	0	.	15.3936	0.74774	0.0:1.0:0.0:0.0	.	296;296	B4DT36;Q9H3T3	.;SEM6B_HUMAN	R	296	ENSP00000301293:G296R	ENSP00000301292:G296R	G	-	1	0	SEMA6B	4503537	1.000000	0.71417	0.715000	0.30552	0.639000	0.38242	7.481000	0.81124	2.208000	0.71279	0.573000	0.79308	GGA		0.652	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458656.2	NM_032108		9	25	0	0	0	0.004482	0	9	25					T	4552537	C	T	4552537	3	4	225	1	0	0	0	0	1	0	0	0	14040	661	23	1	1812	1	SEMA6B	19	4552537	Missense_Mutation	SNP	C	TCGA-EL-A3H5-01A-11D-A202-08		4552537	54576446	24	4745											
PRKCSH	5589	broad.mit.edu	37	chr19	11559445	11559445	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacgagctcaccaccaacgaGtgcgtcccaggaatgcaggg	12	13	1	0			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr19:11559445G>T	ENST00000589838.1	+	13	1265		c.e13+1		PRKCSH_ENST00000592741.1_Splice_Site|PRKCSH_ENST00000412601.1_Splice_Site|PRKCSH_ENST00000587327.1_Splice_Site|PRKCSH_ENST00000591462.1_Splice_Site|PRKCSH_ENST00000252455.2_Splice_Site			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H						cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						CCACCAACGAGTGCGTCCCAG	0.617																																						ENST00000252455.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						c.e14+1		protein kinase C substrate 80K-H							72	77	75					19																	11559445		2203	4300	6503	SO:0001630	splice_region_variant	5589				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding	g.chr19:11559445G>T		CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"EF-hand domain containing"	9411	protein-coding gene	gene with protein product		177060	"polycystic liver disease"	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.1265+1G>T	19.37:g.11559445G>T						PRKCSH_ENST00000412601.1_Splice_Site|PRKCSH_ENST00000592741.1_Splice_Site|PRKCSH_ENST00000591462.1_Splice_Site|PRKCSH_ENST00000587327.1_Splice_Site|PRKCSH_ENST00000589838.1_Splice_Site		NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN			14	1601	+								A8K318|Q96BU9|Q96D06|Q9P0W9	Splice_Site	SNP	ENST00000589838.1	37		CCDS32911.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.679084	0.68042	.	.	ENSG00000130175	ENST00000252455;ENST00000412601	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6404	0.85070	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRKCSH	11420445	1.000000	0.71417	0.953000	0.39169	0.598000	0.36846	8.326000	0.90010	2.217000	0.71921	0.456000	0.33151	.		0.617	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1		Intron	24	64	1	0	7.92952e-12	0.003954	1.42265e-11	24	64					T	11559445	G	T	11559445	5	4	225	1	0	0	0	0	0	0	1	0	12516	1043	36	4	1337	4	PRKCSH	19	11559445	Splice_Site	SNP	G	TCGA-EL-A3H5-01A-11D-A202-08	7006908	11559445	47569538	25	4746											
NPHS1	4868	broad.mit.edu	37	chr19	36342241	36342241	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgacctggcactcatactccGcgtcatcgctgaggtcacag	10	15	3	1	rs386833934		TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr19:36342241G>T	ENST00000378910.5	-	3	319	c.320C>A	c.(319-321)gCg>gAg	p.A107E	NPHS1_ENST00000591817.1_5'Flank|NPHS1_ENST00000353632.6_Missense_Mutation_p.A107E	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	107	Ig-like C2-type 1.		A -> T (in NPHS1). {ECO:0000269|PubMed:18614772}.|A -> V (in NPHS1). {ECO:0000269|PubMed:20172850}.		cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCATACTCCGCGTCATCGCT	0.642																																						ENST00000378910.5																			0				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(319-321)gCg>gAg		nephrosis 1, congenital, Finnish type (nephrin)							30	30	30					19																	36342241		2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36342241G>T		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.320C>A	19.37:g.36342241G>T	ENSP00000368190:p.Ala107Glu					NPHS1_ENST00000353632.6_Missense_Mutation_p.A107E	p.A107E	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	319	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		107		A -> T (in NPHS1).|A -> V (in NPHS1).	Ig-like C2-type 1.		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.320C>A	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019374	0.75275	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.53857	0.6;0.6	5.92	5.92	0.95590	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.061281	0.64402	D	0.000006	T	0.79405	0.4440	M	0.91561	3.22	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.83142	-0.0108	10	0.87932	D	0	-18.7473	17.8963	0.88890	0.0:0.0:1.0:0.0	.	107	O60500	NPHN_HUMAN	E	107	ENSP00000368190:A107E;ENSP00000343634:A107E	ENSP00000343634:A107E	A	-	2	0	NPHS1	41034081	0.979000	0.34478	0.646000	0.29493	0.179000	0.23085	3.644000	0.54381	2.828000	0.97474	0.650000	0.86243	GCG		0.642	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			10	15	1	0	0.000673444	0.008291	0.00108105	10	15					T	36342241	G	T	36342241	3	4	225	1	0	0	0	0	1	0	0	0	10582	1087	38	4	3513	4	NPHS1	19	36342241	Missense_Mutation	SNP	G	TCGA-EL-A3H5-01A-11D-A202-08	24782796	36342241	22786742	26	4747											
NHS	4810	broad.mit.edu	37	chrX	17742462	17742462	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtatacgctgctctctggtTcattcacaatcggtactaca	7	11	3	0			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chrX:17742462T>A	ENST00000380060.3	+	5	1427	c.1089T>A	c.(1087-1089)gtT>gtA	p.V363V	NHS_ENST00000485305.1_3'UTR|NHS_ENST00000398097.3_Silent_p.V207V	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	384					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GCTCTCTGGTTCATTCACAAT	0.423																																						ENST00000380060.3																			0				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71						c.(1087-1089)gtT>gtA		Nance-Horan syndrome (congenital cataracts and dental anomalies)							138	116	124					X																	17742462		2203	4300	6503	SO:0001819	synonymous_variant	4810					nucleus		g.chrX:17742462T>A		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.1089T>A	X.37:g.17742462T>A						NHS_ENST00000398097.3_Silent_p.V207V|NHS_ENST00000485305.1_3'UTR	p.V363V	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN			5	1427	+	Hepatocellular(33;0.183)		363					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Silent	SNP	ENST00000380060.3	37	c.1089T>A	CCDS14181.1																																																																																				0.423	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		40	120	0	0	0	0.00874	0	40	120					A	17742462	T	A	17742462	2	1	225	1	0	0	0	0	0	0	0	1	10411	1770	62	5		5	NHS	23	17742462	Silent	SNP	T	TCGA-EL-A3H5-01A-11D-A202-08		17742462	137528098	27	4748											
USP9X	8239	broad.mit.edu	37	chrX	41075213	41075213	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttcttgctatacaactaaAgcgatttgactatgactggg	9	7	1	2			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chrX:41075213A>C	ENST00000324545.8	+	35	6026	c.5393A>C	c.(5392-5394)aAg>aCg	p.K1798T	USP9X_ENST00000378308.2_Missense_Mutation_p.K1798T	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1798	USP.				axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATACAACTAAAGCGATTTGAC	0.363																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(5392-5394)aAg>aCg		ubiquitin specific peptidase 9, X-linked							78	74	76					X																	41075213		2062	4242	6304	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41075213A>C	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.5393A>C	X.37:g.41075213A>C	ENSP00000316357:p.Lys1798Thr					USP9X_ENST00000378308.2_Missense_Mutation_p.K1798T	p.K1798T	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			35	6026	+			1798					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.5393A>C	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.054648	0.75960	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.39229	1.09;1.09	5.67	5.67	0.87782	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.75568	0.3867	H	0.96547	3.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.84091	0.0390	10	0.87932	D	0	.	14.9351	0.70948	1.0:0.0:0.0:0.0	.	1798;1798	Q93008-1;Q93008	.;USP9X_HUMAN	T	1798	ENSP00000367558:K1798T;ENSP00000316357:K1798T	ENSP00000316357:K1798T	K	+	2	0	USP9X	40960157	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.906000	0.92626	1.909000	0.55274	0.486000	0.48141	AAG		0.363	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		35	70	0	0	0	0.004289	0	35	70					C	41075213	A	C	41075213	3	2	225	1	0	0	0	0	1	0	0	0	17087	72	3	5	5527	5	USP9X	23	41075213	Missense_Mutation	SNP	A	TCGA-EL-A3H5-01A-11D-A202-08	23332751	41075213	114195347	28	4749											
NGFRAP1	27018	broad.mit.edu	37	chrX	102632483	102632483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagaatggagaggaagacCgccctttgggaggaggtgaa	17	6	0	4			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chrX:102632483C>T	ENST00000372645.3	+	3	391	c.64C>T	c.(64-66)Cgc>Tgc	p.R22C	NGFRAP1_ENST00000361298.4_Missense_Mutation_p.R12C|NGFRAP1_ENST00000372635.1_Missense_Mutation_p.R22C|NGFRAP1_ENST00000299872.7_Missense_Mutation_p.R22C|NGFRAP1_ENST00000372634.1_Missense_Mutation_p.R12C			Q00994	BEX3_HUMAN	nerve growth factor receptor (TNFRSF16) associated protein 1	22					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|metal ion binding (GO:0046872)			NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						AGAGGAAGACCGCCCTTTGGG	0.498																																						ENST00000361298.4																			0				NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						c.(34-36)Cgc>Tgc		nerve growth factor receptor (TNFRSF16) associated protein 1							159	156	157					X																	102632483		2203	4300	6503	SO:0001583	missense	27018				apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway	cytosol|nucleus	caspase regulator activity|metal ion binding	g.chrX:102632483C>T	AF187064	CCDS14508.1, CCDS14509.1	Xq22.2	2014-03-21			ENSG00000166681	ENSG00000166681			13388	protein-coding gene	gene with protein product	"brain expressed, X-linked 3"	300361				10764727, 16221301, 2171551	Standard	NM_206915		Approved	BEX3, HGR74, Bex, NADE, DXS6984E	uc004ekj.1	Q00994	OTTHUMG00000022099	ENST00000372645.3:c.64C>T	X.37:g.102632483C>T	ENSP00000361728:p.Arg22Cys					NGFRAP1_ENST00000372645.3_Missense_Mutation_p.R22C|NGFRAP1_ENST00000372635.1_Missense_Mutation_p.R22C|NGFRAP1_ENST00000299872.7_Missense_Mutation_p.R22C|NGFRAP1_ENST00000372634.1_Missense_Mutation_p.R12C	p.R12C	NM_206915.1|NM_206917.1	NP_996798.1|NP_996800.1	Q00994	BEX3_HUMAN			3	399	+			22					B2RD17|D3DXA3|Q5JQT4|Q5JQT5	Missense_Mutation	SNP	ENST00000372645.3	37	c.34C>T	CCDS14508.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.272384	0.40194	.	.	ENSG00000166681	ENST00000361298;ENST00000372645;ENST00000372635;ENST00000372634;ENST00000299872	T;T;T;T;T	0.11385	2.78;2.78;2.78;2.78;2.78	3.68	3.68	0.42216	.	0.162424	0.29767	N	0.011260	T	0.04907	0.0132	N	0.11000	0.08	0.42515	D	0.992986	D	0.58970	0.984	B	0.37267	0.245	T	0.42865	-0.9426	10	0.46703	T	0.11	-0.3257	9.9539	0.41655	0.0:1.0:0.0:0.0	.	22	Q00994	BEX3_HUMAN	C	12;22;22;12;22	ENSP00000354843:R12C;ENSP00000361728:R22C;ENSP00000361718:R22C;ENSP00000361717:R12C;ENSP00000299872:R22C	ENSP00000299872:R22C	R	+	1	0	NGFRAP1	102519139	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	2.711000	0.47177	2.101000	0.63845	0.529000	0.55759	CGC		0.498	NGFRAP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057709.1	NM_014380		66	251	0	0	0	0.01441	0	66	251					T	102632483	C	T	102632483	3	4	225	1	0	0	0	0	1	0	0	0	10397	652	23	1	66	1	NGFRAP1	23	102632483	Missense_Mutation	SNP	C	TCGA-EL-A3H5-01A-11D-A202-08	61557270	102632483	52638077	29	4750											
PEX10	5192	broad.mit.edu	37	chr1	2341873	2341873	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctcaacctccttcctccactCcagccacttcctcgcacctg	3	22	1	0			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr1:2341873C>G	ENST00000447513.2	-	2	198	c.130G>C	c.(130-132)Gag>Cag	p.E44Q	PEX10_ENST00000507596.1_Missense_Mutation_p.E44Q|PEX10_ENST00000288774.3_Missense_Mutation_p.E44Q|PEX10_ENST00000515760.1_5'Flank	NM_002617.3	NP_002608.1	O60683	PEX10_HUMAN	peroxisomal biogenesis factor 10	44					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)	integral component of peroxisomal membrane (GO:0005779)|intracellular (GO:0005622)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)		TTCCTCCACTCCAGCCACTTC	0.592																																					GBM(12;9 508 1649 13619)	ENST00000288774.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7						c.(130-132)Gag>Cag		peroxisomal biogenesis factor 10							90	76	81					1																	2341873		2203	4300	6503	SO:0001583	missense	5192				protein import into peroxisome matrix	integral to peroxisomal membrane|peroxisomal membrane	protein binding|protein C-terminus binding|zinc ion binding	g.chr1:2341873C>G	AF060502	CCDS41.1, CCDS44045.1	1p36.32	2013-01-09	2008-08-26		ENSG00000157911	ENSG00000157911		"RING-type (C3HC4) zinc fingers"	8851	protein-coding gene	gene with protein product		602859	"peroxisome biogenesis factor 10"			9683594	Standard	NM_002617		Approved	RNF69	uc001ajg.3	O60683	OTTHUMG00000001637	ENST00000447513.2:c.130G>C	1.37:g.2341873C>G	ENSP00000407922:p.Glu44Gln					PEX10_ENST00000447513.2_Missense_Mutation_p.E44Q|PEX10_ENST00000507596.1_Missense_Mutation_p.E44Q	p.E44Q	NM_153818.1	NP_722540.1	O60683	PEX10_HUMAN		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)	2	157	-	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	44					B3KWD8|Q5T095|Q9BW90	Missense_Mutation	SNP	ENST00000447513.2	37	c.130G>C	CCDS44045.1	.	.	.	.	.	.	.	.	.	.	C	8.895	0.954828	0.18431	.	.	ENSG00000157911	ENST00000288774;ENST00000447513;ENST00000507596	D;D;D	0.82255	-1.59;-1.59;-1.59	4.73	3.81	0.43845	Pex, N-terminal (1);	0.660425	0.15985	N	0.235088	T	0.72590	0.3479	L	0.28458	0.855	0.33033	D	0.530385	B;B	0.22146	0.065;0.012	B;B	0.21151	0.033;0.022	T	0.68588	-0.5369	10	0.14656	T	0.56	-0.3365	12.769	0.57410	0.0:0.6843:0.3157:0.0	.	44;44	O60683;O60683-2	PEX10_HUMAN;.	Q	44	ENSP00000288774:E44Q;ENSP00000407922:E44Q;ENSP00000424291:E44Q	ENSP00000288774:E44Q	E	-	1	0	PEX10	2331733	0.999000	0.42202	1.000000	0.80357	0.978000	0.69477	0.806000	0.27126	0.969000	0.38237	0.462000	0.41574	GAG		0.592	PEX10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367454.1	NM_153818		4	72	0	0	0	0.27861	0	4	72					G	2341873	C	G	2341873	3	3	226	1	0	0	0	0	1	0	0	0	11736	864	30	4	930	4	PEX10	1	2341873	Missense_Mutation	SNP	C	TCGA-EL-A3H7-01A-11D-A21A-08		2341873	246908748	1	4751											
TAS1R2	80834	broad.mit.edu	37	chr1	19181248	19181248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggctgcagtgtgggcagcGtctcctggaaggcgatgcag	18	9	1	0	rs577863777		TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr1:19181248G>A	ENST00000375371.3	-	3	737	c.716C>T	c.(715-717)aCg>aTg	p.T239M	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	239					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TGTGGGCAGCGTCTCCTGGAA	0.642													G|||	1	0.000199681	0	0	5008	,	,		19777	0		0	False		,,,				2504	0.001					ENST00000375371.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45						c.(715-717)aCg>aTg		taste receptor, type 1, member 2	Aspartame(DB00168)						57	51	53					1																	19181248		2203	4300	6503	SO:0001583	missense	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19181248G>A		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.716C>T	1.37:g.19181248G>A	ENSP00000364520:p.Thr239Met					RP13-279N23.2_ENST00000494072.3_3'UTR	p.T239M	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	3	737	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	239					Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	c.716C>T	CCDS187.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.513528	0.27123	.	.	ENSG00000179002	ENST00000375371	D	0.86164	-2.08	4.99	0.569	0.17340	Extracellular ligand-binding receptor (1);	3.773490	0.00873	N	0.002056	D	0.88273	0.6392	L	0.33668	1.02	0.09310	N	1	D	0.65815	0.995	P	0.60886	0.88	T	0.73892	-0.3839	10	0.41790	T	0.15	.	6.7382	0.23421	0.6261:0.0:0.3739:0.0	.	239	Q8TE23	TS1R2_HUMAN	M	239	ENSP00000364520:T239M	ENSP00000364520:T239M	T	-	2	0	TAS1R2	19053835	0.036000	0.19791	0.119000	0.21687	0.265000	0.26407	1.116000	0.31221	-0.072000	0.12864	-0.258000	0.10820	ACG		0.642	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			12	15	0	0	0	0.457914	0	12	15					A	19181248	G	A	19181248	3	1	226	1	0	0	0	0	1	0	0	0	15560	1145	40	1	1819	1	TAS1R2	1	19181248	Missense_Mutation	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08	16839375	19181248	230069373	2	4752											
TTN	7273	broad.mit.edu	37	chr2	179579858	179579858	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attatcttgtacttcttgccGctcctaagttctctcttgtc	5	12	4	0			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr2:179579858G>A	ENST00000591111.1	-	88	25328	c.25104C>T	c.(25102-25104)agC>agT	p.S8368S	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Silent_p.S8685S|TTN_ENST00000342992.6_Silent_p.S7441S|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12542	Ig-like 66.				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)			ACTTCTTGCCGCTCCTAAGTT	0.443																																						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.(26053-26055)agC>agT		titin							318	300	306					2																	179579858		1923	4120	6043	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179579858G>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.25104C>T	2.37:g.179579858G>A						TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.S7441S|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.S8368S	p.S8685S	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)		90	26279	-			8368			Ig-like 69.		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.26055C>T																																																																																					0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	290	0	0	0	0.361761	0	8	290					A	179579858	G	A	179579858	2	1	226	1	0	0	0	0	0	0	0	1	16732	1078	38	1		1	TTN	2	179579858	Silent	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08		179579858	63619515	3	4753											
FAM126B	285172	broad.mit.edu	37	chr2	201853010	201853010	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cttctccatctatgacgacgGattgaagctgttgtaattgc	9	9	2	2			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr2:201853010G>T	ENST00000418596.3	-	11	1153	c.966C>A	c.(964-966)atC>atA	p.I322I	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	322						intracellular (GO:0005622)				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						TATGACGACGGATTGAAGCTG	0.428																																						ENST00000418596.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.(964-966)atC>atA		family with sequence similarity 126, member B							152	152	152					2																	201853010		2203	4300	6503	SO:0001819	synonymous_variant	285172					intracellular		g.chr2:201853010G>T	BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.966C>A	2.37:g.201853010G>T						AC005037.3_ENST00000413848.1_RNA	p.I322I	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN			11	1153	-			322					B2RCG7|Q4ZG87|Q53TX6	Silent	SNP	ENST00000418596.3	37	c.966C>A	CCDS2335.1																																																																																				0.428	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256285.3	NM_173822		4	182	1	0	0.150653	0.150653	0.162469	4	182					T	201853010	G	T	201853010	2	4	226	1	0	0	0	0	0	0	0	1	5430	1164	41	4		4	FAM126B	2	201853010	Silent	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08	22273152	201853010	41346363	4	4754											
HHLA2	11148	broad.mit.edu	37	chr3	108076828	108076828	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tctctgtcctggcttactatCtgagctcctcacaaaataca	5	13	3	1	rs369237811		TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr3:108076828C>G	ENST00000357759.5	+	6	1237	c.823C>G	c.(823-825)Ctg>Gtg	p.L275V	HHLA2_ENST00000467761.1_Missense_Mutation_p.L275V|HHLA2_ENST00000489514.2_Missense_Mutation_p.L275V|HHLA2_ENST00000491820.1_Missense_Mutation_p.L275V|HHLA2_ENST00000467562.1_Missense_Mutation_p.L211V	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	275	Ig-like V-type 2.				positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						GGCTTACTATCTGAGCTCCTC	0.373													C|||	1	0.000199681	8e-04	0	5008	,	,		18436	0		0	False		,,,				2504	0					ENST00000357759.5																			0				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						c.(823-825)Ctg>Gtg		HERV-H LTR-associating 2		C	VAL/LEU	1,3705		0,1,1852	147	144	145		823	-3.6	0.0	3		145	0,8200		0,0,4100	no	missense	HHLA2	NM_007072.2	32	0,1,5952	GG,GC,CC		0.0,0.027,0.0084	possibly-damaging	275/415	108076828	1,11905	1853	4100	5953	SO:0001583	missense	11148					integral to membrane		g.chr3:108076828C>G	AF126162	CCDS46883.1, CCDS63713.1, CCDS74975.1	3q13.13	2013-01-11			ENSG00000114455	ENSG00000114455		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	4905	protein-coding gene	gene with protein product		604371				10444326	Standard	NM_007072		Approved	B7H7	uc003dwz.3	Q9UM44	OTTHUMG00000159224	ENST00000357759.5:c.823C>G	3.37:g.108076828C>G	ENSP00000350402:p.Leu275Val					HHLA2_ENST00000467562.1_Missense_Mutation_p.L211V|HHLA2_ENST00000491820.1_Missense_Mutation_p.L275V|HHLA2_ENST00000467761.1_Missense_Mutation_p.L275V|HHLA2_ENST00000489514.2_Missense_Mutation_p.L275V	p.L275V	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN			6	1237	+			275			Ig-like V-type 2.		B4DKN2|D3DN60|Q9NWQ6	Missense_Mutation	SNP	ENST00000357759.5	37	c.823C>G	CCDS46883.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.985|8.985	0.976363|0.976363	0.18736|0.18736	2.7E-4|2.7E-4	0.0|0.0	ENSG00000114455|ENSG00000114455	ENST00000491820;ENST00000467562;ENST00000357759;ENST00000467761;ENST00000489514|ENST00000482099	T;T;T;T;T|.	0.65732|.	-0.17;-0.17;-0.17;-0.17;-0.17|.	4.92|4.92	-3.64|-3.64	0.04515|0.04515	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	2.299950|.	0.02738|.	N|.	0.115910|.	T|T	0.17365|0.17365	0.0417|0.0417	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	P;P;P|.	0.39862|.	0.692;0.692;0.692|.	B;B;B|.	0.42692|.	0.395;0.22;0.395|.	T|T	0.27226|0.27226	-1.0080|-1.0080	10|5	0.15066|.	T|.	0.55|.	-6.7831|-6.7831	0.4568|0.4568	0.00510|0.00510	0.2837:0.2068:0.1317:0.3778|0.2837:0.2068:0.1317:0.3778	.|.	211;275;275|.	B4DKN2;C9J7D0;Q9UM44|.	.;.;HHLA2_HUMAN|.	V|C	275;211;275;275;275|177	ENSP00000418284:L275V;ENSP00000418345:L211V;ENSP00000350402:L275V;ENSP00000419207:L275V;ENSP00000417856:L275V|.	ENSP00000350402:L275V|.	L|S	+|+	1|2	2|0	HHLA2|HHLA2	109559518|109559518	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.040000|0.040000	0.13550|0.13550	-1.506000|-1.506000	0.02271|0.02271	-0.341000|-0.341000	0.08376|0.08376	-0.142000|-0.142000	0.14014|0.14014	CTG|TCT		0.373	HHLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353924.1	NM_007072		18	103	0	0	0	0.608945	0	18	103					G	108076828	C	G	108076828	3	3	226	1	0	0	0	0	1	0	0	0	7095	912	32	4	837	4	HHLA2	3	108076828	Missense_Mutation	SNP	C	TCGA-EL-A3H7-01A-11D-A21A-08		108076828	89945602	5	4755											
RPN1	6184	broad.mit.edu	37	chr3	128356853	128356853	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtgatctgggttggatacGgatgaagcacatgggtgtag	18	4	1	2	rs141345041		TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr3:128356853G>T	ENST00000296255.3	-	3	470	c.422C>A	c.(421-423)cCg>cAg	p.P141Q	RPN1_ENST00000497289.1_5'UTR	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	141					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		GGTTGGATACGGATGAAGCAC	0.468			T	EVI1	AML																																	ENST00000296255.3				Dom	yes		3	3q21.3-q25.2	6184	T	ribophorin I			L	EVI1		AML		0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13						c.(421-423)cCg>cAg		ribophorin I							162	129	140					3																	128356853		2203	4300	6503	SO:0001583	missense	6184				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr3:128356853G>T		CCDS3051.1	3q21.3	2013-03-06			ENSG00000163902	ENSG00000163902			10381	protein-coding gene	gene with protein product	"oligosaccharyltransferase 1 homolog (S. cerevisiae)", "oligosaccharyltransferase complex subunit (non-catalytic)"	180470					Standard	NM_002950		Approved	OST1	uc003ekr.1	P04843	OTTHUMG00000159691	ENST00000296255.3:c.422C>A	3.37:g.128356853G>T	ENSP00000296255:p.Pro141Gln					RPN1_ENST00000497289.1_5'UTR	p.P141Q	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	3	470	-			141					B2R5Z0|D3DNB6|Q68DT1	Missense_Mutation	SNP	ENST00000296255.3	37	c.422C>A	CCDS3051.1	.	.	.	.	.	.	.	.	.	.	G	32	5.109920	0.94292	.	.	ENSG00000163902	ENST00000296255;ENST00000545956	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.87321	0.6148	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89983	0.4102	9	0.87932	D	0	-8.6477	19.763	0.96332	0.0:0.0:1.0:0.0	.	141	P04843	RPN1_HUMAN	Q	141;115	.	ENSP00000296255:P141Q	P	-	2	0	RPN1	129839543	1.000000	0.71417	0.962000	0.40283	0.977000	0.68977	9.338000	0.96553	2.675000	0.91044	0.591000	0.81541	CCG		0.468	RPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356934.2	NM_002950		3	64	1	0	0.00909568	0.150653	0.0102094	3	64					T	128356853	G	T	128356853	3	4	226	1	0	0	0	0	1	0	0	0	13607	1116	39	4	1433	4	RPN1	3	128356853	Missense_Mutation	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08	20280025	128356853	69665577	6	4756											
PRDM9	56979	broad.mit.edu	37	chr5	23526999	23526999	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctcctcactcaccagaggaCacacacaggggagaagccct	9	16	2	2			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr5:23526999C>G	ENST00000296682.3	+	11	1984	c.1802C>G	c.(1801-1803)aCa>aGa	p.T601R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	601					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.T601R(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CACCAGAGGACACACACAGGG	0.597										HNSCC(3;0.000094)																												ENST00000296682.3																			1	Substitution - Missense(1)	p.T601R(1)	skin(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(1801-1803)aCa>aGa		PR domain containing 9																																				SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526999C>G	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1802C>G	5.37:g.23526999C>G	ENSP00000296682:p.Thr601Arg	HNSCC(3;0.000094)					p.T601R	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			11	1984	+			601					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.1802C>G	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.521210	0.27211	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.07688	3.17	2.19	2.19	0.27852	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.205033	0.24483	N	0.038125	T	0.14917	0.0360	L	0.49256	1.55	0.24930	N	0.991926	P	0.51653	0.947	P	0.60236	0.871	T	0.02226	-1.1192	10	0.62326	D	0.03	-6.7786	4.8239	0.13407	0.0:0.8206:0.0:0.1794	.	601	Q9NQV7	PRDM9_HUMAN	R	601;367	ENSP00000296682:T601R	ENSP00000253473:T367R	T	+	2	0	PRDM9	23562756	0.000000	0.05858	1.000000	0.80357	0.414000	0.31173	-0.844000	0.04345	1.501000	0.48654	0.555000	0.69702	ACA		0.597	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		4	169	0	0	0	0.217242	0	4	169					G	23526999	C	G	23526999	3	3	226	1	0	0	0	0	1	0	0	0	12463	478	17	4	1840	4	PRDM9	5	23526999	Missense_Mutation	SNP	C	TCGA-EL-A3H7-01A-11D-A21A-08		23526999	157388261	7	4757											
PCDHA8	56140	broad.mit.edu	37	chr5	140222759	140222759	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcagccagctgcaagcagccCtcgcatcccgttccgcgtgg	12	17	0	0	rs369930708		TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr5:140222759C>G	ENST00000531613.1	+	1	1853	c.1853C>G	c.(1852-1854)cCt>cGt	p.P618R	PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P618R|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	618	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAGCAGCCCTCGCATCCCG	0.677																																						ENST00000531613.1																			0				NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(1852-1854)cCt>cGt									95	94	94					5																	140222759		2197	4272	6469	SO:0001583	missense	0							g.chr5:140222759C>G	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1853C>G	5.37:g.140222759C>G	ENSP00000434655:p.Pro618Arg					PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P618R	p.P618R	NM_018911.2	NP_061734.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1853	+								B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1853C>G	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	C	1.437	-0.568604	0.03910	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.21191	2.02;2.02	2.93	-1.94	0.07571	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.12263	0.0298	L	0.28458	0.855	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31888	-0.9927	9	0.66056	D	0.02	.	2.8715	0.05618	0.2391:0.3379:0.3263:0.0968	.	618;618	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	R	618	ENSP00000434655:P618R;ENSP00000367363:P618R	ENSP00000367363:P618R	P	+	2	0	PCDHA8	140202943	0.004000	0.15560	0.000000	0.03702	0.014000	0.08584	0.878000	0.28126	-0.202000	0.10268	0.313000	0.20887	CCT		0.677	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		8	223	0	0	0	0.361761	0	8	223					G	140222759	C	G	140222759	3	3	226	1	0	0	0	0	1	0	0	0	11530	681	24	4	1855	4	PCDHA8	5	140222759	Missense_Mutation	SNP	C	TCGA-EL-A3H7-01A-11D-A21A-08	116695760	140222759	40692501	8	4758											
C6orf146	222826	broad.mit.edu	37	chr6	4069208	4069211	+	Frame_Shift_Del	DEL	TGAA	TGAA	-													tgtatggccaatagtaggttTgaatgagagttcttggcatg							TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr6:4069208_4069211delTGAA	ENST00000274673.3	-	7	1649_1652	c.1246_1249delTTCA	c.(1246-1251)ttcaaafs	p.FK416fs	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	F217A_HUMAN	family with sequence similarity 217, member A	416																	ATAGTAGGTTTGAATGAGAGTTCT	0.387																																						ENST00000274673.3																			0											c.(1246-1251)aafs		family with sequence similarity 217, member A																																				SO:0001589	frameshift_variant	222826							g.chr6:4069208_4069211delTGAA	BC039349	CCDS4489.1	6p25.1	2012-02-07	2012-02-07	2012-02-07	ENSG00000145975	ENSG00000145975			21362	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 146"	C6orf146			Standard	NM_173563		Approved	MGC43581	uc003mvx.3	Q8IXS0	OTTHUMG00000014159	ENST00000274673.3:c.1246_1249delTTCA	6.37:g.4069208_4069211delTGAA	ENSP00000274673:p.Phe416fs					FAM217A_ENST00000380188.2_5'UTR	p.FK416fs	NM_173563.2	NP_775834.2	Q8IXS0	CF146_HUMAN			7	1649_1652	-			416					Q5JYK1	Frame_Shift_Del	DEL	ENST00000274673.3	37	c.1246_1249delTTCA	CCDS4489.1																																																																																				0.387	FAM217A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352577.2	NM_173563		39	132						39	132	---	---	---	---	-	4069211	TGAA	-	4069208	7	5	226	1	0	1	0	1	0	0	0	0	2335	1821	63	0	281	0	C6orf146	6	4069208	Frame_Shift_Del	DEL	TGAA	TCGA-EL-A3H7-01A-11D-A21A-08		4069208	167045859	9	4759											
RNF216	54476	broad.mit.edu	37	chr7	5662664	5662664	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaacacaggccgcacgggagGcagggggaagggtgggtgcg	22	8	0	0			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr7:5662664G>T	ENST00000425013.2	-	17	2652	c.2428C>A	c.(2428-2430)Cct>Act	p.P810T	RNF216_ENST00000389902.3_Missense_Mutation_p.P867T|RNF216_ENST00000469375.1_5'UTR	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	810	Pro-rich.				apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CGCACGGGAGGCAGGGGGAAG	0.647																																						ENST00000425013.2																		FBXL18/RNF216(2)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33						c.(2428-2430)Cct>Act		ring finger protein 216							72	77	75					7																	5662664		2203	4300	6503	SO:0001583	missense	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr7:5662664G>T	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"RING-type (C3HC4) zinc fingers"	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.2428C>A	7.37:g.5662664G>T	ENSP00000404602:p.Pro810Thr					RNF216_ENST00000389902.3_Missense_Mutation_p.P867T|RNF216_ENST00000469375.1_5'UTR	p.P810T	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	17	2652	-		Ovarian(82;0.07)	810			Pro-rich.		Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	c.2428C>A	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265505	0.59431	.	.	ENSG00000011275	ENST00000425013;ENST00000389902;ENST00000458425	T;T	0.54479	0.59;0.57	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.67674	0.2918	L	0.50333	1.59	0.58432	D	0.999993	D;D	0.76494	0.999;0.999	D;D	0.71656	0.951;0.974	T	0.70022	-0.4986	10	0.66056	D	0.02	-11.8033	17.7162	0.88337	0.0:0.0:1.0:0.0	.	810;867	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	T	810;867;622	ENSP00000404602:P810T;ENSP00000374552:P867T	ENSP00000374552:P867T	P	-	1	0	RNF216	5629190	1.000000	0.71417	0.995000	0.50966	0.356000	0.29392	5.002000	0.63952	2.488000	0.83962	0.561000	0.74099	CCT		0.647	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		54	110	1	0	4.33383e-22	0.870114	5.29691e-22	54	110					T	5662664	G	T	5662664	3	4	226	1	0	0	0	0	1	0	0	0	13480	1203	42	4	176	4	RNF216	7	5662664	Missense_Mutation	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08		5662664	153475999	10	4760											
ZAN	7455	broad.mit.edu	37	chr7	100377342	100377342	+	RNA	DEL	C	C	-													gccagagccaggggctcaagCccccactctggagaaacagc							TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr7:100377342delC	ENST00000348028.3	+	0	6756				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_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)			GGGGCTCAAGCCCCCACTCTG	0.627																																						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)							11	13	13					7																	100377342		1896	4077	5973			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100377342delC	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.100377342delC						ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	6737	+	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	DEL	ENST00000348028.3	37																																																																																						0.627	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		2	4						2	4	---	---	---	---	-	100377342	C	-	100377342	6	5	226	0	1	1	0	1	0	0	0	0	17510	739	26	0		0	ZAN	7	100377342	RNA	DEL	C	TCGA-EL-A3H7-01A-11D-A21A-08	94714678	100377342	58761321	11	4761											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		27	52	0	0	0	0.760397	0	27	52					T	140453136	A	T	140453136	3	4	226	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3H7-01A-11D-A21A-08	40075794	140453136	18685527	12	4762											
ADCY8	114	broad.mit.edu	37	chr8	132002665	132002665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggttctctgtctccaggcGcagcctggcctccacacacc	9	17	2	0	rs377530734		TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr8:132002665G>A	ENST00000286355.5	-	2	3176	c.1084C>T	c.(1084-1086)Cgc>Tgc	p.R362C	ADCY8_ENST00000377928.3_Missense_Mutation_p.R362C	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	362					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)|cellular response to glucagon stimulus (GO:0071377)|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)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.R362S(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GTCTCCAGGCGCAGCCTGGCC	0.502										HNSCC(32;0.087)																												ENST00000286355.5																			1	Substitution - Missense(1)	p.R362S(1)	lung(1)	NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(1084-1086)Cgc>Tgc		adenylate cyclase 8 (brain)		G	CYS/ARG	0,4406		0,0,2203	110	117	115		1084	4.7	1.0	8		115	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADCY8	NM_001115.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	362/1252	132002665	1,13005	2203	4300	6503	SO:0001583	missense	114				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|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:132002665G>A	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1084C>T	8.37:g.132002665G>A	ENSP00000286355:p.Arg362Cys	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Missense_Mutation_p.R362C	p.R362C	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		2	3176	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		362						Missense_Mutation	SNP	ENST00000286355.5	37	c.1084C>T	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452400	0.63290	0.0	1.16E-4	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.79845	-1.3;-1.31	5.72	4.73	0.59995	.	0.050961	0.64402	D	0.000001	T	0.79452	0.4448	L	0.57536	1.79	0.43808	D	0.996366	D;D	0.69078	0.997;0.974	P;B	0.47044	0.535;0.249	T	0.80830	-0.1207	10	0.59425	D	0.04	.	11.4001	0.49864	0.0:0.0:0.6677:0.3323	.	362;362	E7EVL1;P40145	.;ADCY8_HUMAN	C	362	ENSP00000286355:R362C;ENSP00000367161:R362C	ENSP00000286355:R362C	R	-	1	0	ADCY8	132071847	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.618000	0.46393	2.857000	0.98124	0.650000	0.86243	CGC		0.502	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			4	159	0	0	0	0.184627	0	4	159					A	132002665	G	A	132002665	3	1	226	1	0	0	0	0	1	0	0	0	300	1087	38	1	2739	1	ADCY8	8	132002665	Missense_Mutation	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08		132002665	14361357	13	4763											
GPT	2875	broad.mit.edu	37	chr8	145732033	145732033	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccgcgggcggtggagcgCgctcaggtcaggcgggggcg	21	14	2	0			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr8:145732033C>T	ENST00000528431.1	+	10	1438	c.1281C>T	c.(1279-1281)cgC>cgT	p.R427R	GPT_ENST00000394955.2_Silent_p.R427R|MFSD3_ENST00000301327.4_5'Flank			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	427					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(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)		L-Alanine(DB00160)|Phenelzine(DB00780)	CGGTGGAGCGCGCTCAGGTCA	0.731																																						ENST00000394955.2																			0				central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5						c.(1279-1281)cgC>cgT		glutamic-pyruvate transaminase (alanine aminotransferase)	L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						4	4	4					8																	145732033		1886	3671	5557	SO:0001819	synonymous_variant	2875				gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr8:145732033C>T		CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2.6.1.2		4552	protein-coding gene	gene with protein product		138200					Standard	NM_005309		Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	ENST00000528431.1:c.1281C>T	8.37:g.145732033C>T						GPT_ENST00000528431.1_Silent_p.R427R	p.R427R	NM_005309.2	NP_005300.1	P24298	ALAT1_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)		9	1504	+	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)		427					B0YJ18|D3DWM7|P78398|Q93076	Silent	SNP	ENST00000528431.1	37	c.1281C>T	CCDS6430.1																																																																																				0.731	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382471.1			7	9	0	0	0	0.27861	0	7	9					T	145732033	C	T	145732033	2	4	226	1	0	0	0	0	0	0	0	1	6737	755	27	1		1	GPT	8	145732033	Silent	SNP	C	TCGA-EL-A3H7-01A-11D-A21A-08	13729368	145732033	631989	14	4764											
ERMP1	79956	broad.mit.edu	37	chr9	5832860	5832861	+	Frame_Shift_Ins	INS	-	-	C													ccctgctcgcgccgccgctaINScccccggggctcctcttccg							TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr9:5832860_5832861insC	ENST00000339450.5	-	1	256_257	c.167_168insG	c.(166-168)ggtfs	p.G56fs	ERMP1_ENST00000381506.3_5'Flank|ERMP1_ENST00000214893.5_5'Flank	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	56						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)		CGCCGCCGCTACCCCCGGGGCT	0.787																																						ENST00000339450.5																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20						c.(166-168)gagfs		endoplasmic reticulum metallopeptidase 1																																				SO:0001589	frameshift_variant	79956				proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity	g.chr9:5832860_5832861insC	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.168dupG	9.37:g.5832865_5832865dupC	ENSP00000340427:p.Gly56fs						p.E56fs	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)	1	256_257	-		Acute lymphoblastic leukemia(23;0.158)	56					B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Frame_Shift_Ins	INS	ENST00000339450.5	37	c.167_168insG	CCDS34983.1																																																																																				0.787	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		2	4						2	4	---	---	---	---	C	5832861	-	C	5832860	7	5	226	1	0	1	1	0	0	0	0	0	5236	378	14	0	2606	0	ERMP1	9	5832860	Frame_Shift_Ins	INS	-	TCGA-EL-A3H7-01A-11D-A21A-08		5832860	135380571	15	4765											
BRD3	8019	broad.mit.edu	37	chr9	136915622	136915622	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttggtacaggggtggcagcGatgacgggcgtctgggagac	20	7	1	2	rs142203601	byFrequency	TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr9:136915622G>A	ENST00000303407.7	-	5	773	c.588C>T	c.(586-588)atC>atT	p.I196I	BRD3_ENST00000357885.2_Silent_p.I196I|BRD3_ENST00000371834.2_Silent_p.I196I	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	196					chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GGGTGGCAGCGATGACGGGCG	0.662			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000303407.7				Dom	yes		9	9q34	8019	T	bromodomain containing 3			E	C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	0				kidney(1)|skin(1)|stomach(4)	6						c.(586-588)atC>atT		bromodomain containing 3		G		2,4404	4.2+/-10.8	0,2,2201	72	83	79		588	-1.7	1.0	9	dbSNP_134	79	0,8598		0,0,4299	no	coding-synonymous	BRD3	NM_007371.3		0,2,6500	AA,AG,GG		0.0,0.0454,0.0154		196/727	136915622	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	8019					nucleus	protein binding	g.chr9:136915622G>A		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"RING3-like"	601541	"bromodomain-containing 3"			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.588C>T	9.37:g.136915622G>A						BRD3_ENST00000371834.2_Silent_p.I196I|BRD3_ENST00000357885.2_Silent_p.I196I	p.I196I	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	5	773	-			196					B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Silent	SNP	ENST00000303407.7	37	c.588C>T	CCDS6980.1																																																																																				0.662	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		15	214	0	0	0	0.592651	0	15	214					A	136915622	G	A	136915622	2	1	226	1	0	0	0	0	0	0	0	1	1503	1048	37	1		1	BRD3	9	136915622	Silent	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08	131082762	136915622	4297809	16	4766											
KLF6	1316	broad.mit.edu	37	chr10	3824179	3824179	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggagctgtcagaggattcGctgctgacatctgagttcag	13	9	3	3			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr10:3824179G>A	ENST00000497571.1	-	2	590	c.330C>T	c.(328-330)agC>agT	p.S110S	KLF6_ENST00000469435.1_Silent_p.S110S|KLF6_ENST00000173785.4_5'UTR|KLF6_ENST00000542957.1_Silent_p.S110S	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	110					B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		CAGAGGATTCGCTGCTGACAT	0.517											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000497571.1																			0				breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(328-330)agC>agT		Kruppel-like factor 6							169	182	178					10																	3824179		2203	4300	6503	SO:0001819	synonymous_variant	1316				B cell differentiation	nucleus	zinc ion binding	g.chr10:3824179G>A	U51869	CCDS7060.1, CCDS53490.1	10p15	2013-01-08	2004-11-29	2004-12-01	ENSG00000067082	ENSG00000067082		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	2235	protein-coding gene	gene with protein product	"GC-rich binding factor"	602053	"core promoter element binding protein"	BCD1, ST12, COPEB		9503030, 9685731	Standard	NM_001300		Approved	CPBP, GBF, Zf9, PAC1	uc001iha.3	Q99612	OTTHUMG00000017567	ENST00000497571.1:c.330C>T	10.37:g.3824179G>A			OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	614	KLF6_ENST00000542957.1_Silent_p.S110S|KLF6_ENST00000173785.4_5'UTR|KLF6_ENST00000469435.1_Silent_p.S110S	p.S110S	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN		Colorectal(1;0.238)	2	590	-			110					B2RE86|B4DDN0|D3DRR1|F5H3M5|Q5VUT7|Q5VUT8|Q9BT79	Silent	SNP	ENST00000497571.1	37	c.330C>T	CCDS7060.1																																																																																				0.517	KLF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046495.1			12	298	0	0	0	0.500413	0	12	298					A	3824179	G	A	3824179	2	1	226	1	0	0	0	0	0	0	0	1	8350	1078	38	1		1	KLF6	10	3824179	Silent	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08		3824179	131710568	17	4767											
A1CF	29974	broad.mit.edu	37	chr10	52569681	52569681	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagtagcagcagcagcagCagtagccatggtgccatcgc	13	12	0	0			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr10:52569681C>T	ENST00000373993.1	-	10	1650	c.1606G>A	c.(1606-1608)Gct>Act	p.A536T	ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000493415.1_5'Flank|A1CF_ENST00000374001.2_Missense_Mutation_p.A528T|A1CF_ENST00000395495.1_Missense_Mutation_p.A481T|A1CF_ENST00000373997.3_Missense_Mutation_p.A528T|A1CF_ENST00000395489.2_Missense_Mutation_p.A529T|A1CF_ENST00000282641.2_Missense_Mutation_p.A536T|A1CF_ENST00000373995.3_Missense_Mutation_p.A536T			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	536					cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						gcagcagcagcagtagcCATG	0.527																																						ENST00000395489.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(1585-1587)Gct>Act		APOBEC1 complementation factor							100	90	93					10																	52569681		2203	4300	6503	SO:0001583	missense	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52569681C>T	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"RNA binding motif (RRM) containing"	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.1606G>A	10.37:g.52569681C>T	ENSP00000363105:p.Ala536Thr					A1CF_ENST00000374001.1_Missense_Mutation_p.A528T|A1CF_ENST00000373993.1_Missense_Mutation_p.A536T|A1CF_ENST00000373997.3_Missense_Mutation_p.A528T|A1CF_ENST00000282641.2_Missense_Mutation_p.A536T|A1CF_ENST00000373995.3_Missense_Mutation_p.A536T|A1CF_ENST00000395495.1_Missense_Mutation_p.A481T|ASAH2B_ENST00000483649.1_Intron	p.A529T	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN			14	1981	-			536					A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.1585G>A	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.276234	0.23307	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489	T;T;T;T;T;T;T	0.12465	2.75;2.81;2.75;2.8;2.81;2.68;2.81	5.58	2.56	0.30785	.	0.602110	0.13673	N	0.370702	T	0.10294	0.0252	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.001	B;B;B;B	0.06405	0.001;0.0;0.001;0.002	T	0.34477	-0.9827	10	0.21014	T	0.42	-2.5634	6.7666	0.23571	0.0:0.6871:0.1471:0.1659	.	529;536;528;536	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	T	528;536;528;536;536;481;511;529	ENSP00000363113:A528T;ENSP00000363105:A536T;ENSP00000363109:A528T;ENSP00000363107:A536T;ENSP00000282641:A536T;ENSP00000378873:A481T;ENSP00000378868:A529T	ENSP00000282641:A536T	A	-	1	0	A1CF	52239687	0.004000	0.15560	0.006000	0.13384	0.061000	0.15899	0.157000	0.16402	0.714000	0.32081	0.655000	0.94253	GCT		0.527	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		4	105	0	0	0	0.150653	0	4	105					T	52569681	C	T	52569681	3	4	226	1	0	0	0	0	1	0	0	0	2	710	25	2	186	2	A1CF	10	52569681	Missense_Mutation	SNP	C	TCGA-EL-A3H7-01A-11D-A21A-08	48745502	52569681	82965066	18	4768											
INPP5F	79892	broad.mit.edu	37	chr10	121586462	121586462	+	IGR	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acatgtcttcagataatgacTcataccactctgatgaattc	5	10	4	4			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr10:121586462T>C	ENST00000360003.3	-	0	4113				INPP5F_ENST00000369080.3_Missense_Mutation_p.S247P|INPP5F_ENST00000361976.2_Missense_Mutation_p.S857P	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein						DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						AGATAATGACTCATACCACTC	0.408																																						ENST00000361976.2																			0				breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(2569-2571)Tca>Cca		inositol polyphosphate-5-phosphatase F							120	110	113					10																	121586462		2203	4300	6503	SO:0001628	intergenic_variant	22876						phosphoric ester hydrolase activity	g.chr10:121586462T>C	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"chromosome 10 open reading frame 119"	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159		10.37:g.121586462T>C						INPP5F_ENST00000369080.3_Missense_Mutation_p.S247P	p.S857P	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	20	2735	+		Lung NSC(174;0.109)|all_lung(145;0.142)	857					B3KSP7|Q6IA56|Q9BVT9|Q9H916	Missense_Mutation	SNP	ENST00000360003.3	37	c.2569T>C	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.325545	0.81580	.	.	ENSG00000198825	ENST00000361976;ENST00000369080	T;T	0.55052	0.85;0.54	5.92	5.92	0.95590	.	0.288604	0.34802	N	0.003663	T	0.63046	0.2478	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.994	T	0.60934	-0.7164	10	0.35671	T	0.21	-12.6761	16.3631	0.83280	0.0:0.0:0.0:1.0	.	247;857	Q5W135;Q9Y2H2	.;SAC2_HUMAN	P	857;247	ENSP00000354519:S857P;ENSP00000358076:S247P	ENSP00000354519:S857P	S	+	1	0	INPP5F	121576452	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.603000	0.82811	2.266000	0.75297	0.533000	0.62120	TCA		0.408	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		47	78	0	0	0	0.870114	0	47	78					C	121586462	T	C	121586462	1	2	226	0	1	0	0	0	0	0	0	0	7758	1551	54	3		3	INPP5F	10	121586462	IGR	SNP	T	TCGA-EL-A3H7-01A-11D-A21A-08	69016781	121586462	13948285	19	4769											
MUC5B	727897	broad.mit.edu	37	chr11	1281040	1281040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggggagtgcgtccagaccGcctgcctcacgcccgatggc	15	15	1	1			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr11:1281040G>A	ENST00000529681.1	+	45	16826	c.16768G>A	c.(16768-16770)Gcc>Acc	p.A5590T	MUC5B_ENST00000447027.1_Missense_Mutation_p.A5593T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5590					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGTCCAGACCGCCTGCCTCAC	0.657																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(16777-16779)Gcc>Acc		mucin 5B, oligomeric mucus/gel-forming							65	77	73					11																	1281040		2108	4213	6321	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1281040G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.16768G>A	11.37:g.1281040G>A	ENSP00000436812:p.Ala5590Thr					MUC5B_ENST00000529681.1_Missense_Mutation_p.A5590T	p.A5593T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	45	16835	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	5590					O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.16777G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	5.859	0.342618	0.11069	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000546052;ENST00000406844;ENST00000526859	T;T;T	0.65178	-0.14;-0.14;-0.14	4.25	1.26	0.21427	.	.	.	.	.	T	0.45216	0.1331	L	0.46885	1.475	0.09310	N	1	P;P	0.47106	0.89;0.89	B;B	0.34590	0.186;0.186	T	0.43653	-0.9378	9	0.87932	D	0	.	3.297	0.06970	0.2976:0.0:0.519:0.1834	.	5927;5593	A7Y9J9;E9PBJ0	.;.	T	5590;5593;5534;489;5302;135	ENSP00000436812:A5590T;ENSP00000415793:A5593T;ENSP00000434539:A135T	ENSP00000343037:A5534T	A	+	1	0	MUC5B	1237616	0.001000	0.12720	0.199000	0.23439	0.019000	0.09904	0.409000	0.21082	0.168000	0.19655	0.561000	0.74099	GCC		0.657	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		10	119	0	0	0	0.411799	0	10	119					A	1281040	G	A	1281040	3	1	226	1	0	0	0	0	1	0	0	0	9979	1087	38	1	16955	1	MUC5B	11	1281040	Missense_Mutation	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08		1281040	133725476	20	4770											
MARK2	2011	broad.mit.edu	37	chr11	63606995	63606995	+	Frame_Shift_Del	DEL	C	C	-													cgccatgtccagcgctcggaCccccctacccacgctgaacg							TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr11:63606995delC	ENST00000508192.1	+	1	519	c.17delC	c.(16-18)accfs	p.T6fs	MARK2_ENST00000377810.3_5'UTR|MARK2_ENST00000402010.2_Frame_Shift_Del_p.T6fs|MARK2_ENST00000350490.7_Frame_Shift_Del_p.T6fs|MARK2_ENST00000377809.4_Frame_Shift_Del_p.T6fs|MARK2_ENST00000361128.5_Frame_Shift_Del_p.T6fs|MARK2_ENST00000413835.2_Frame_Shift_Del_p.T6fs|MARK2_ENST00000502399.3_Frame_Shift_Del_p.T6fs|MARK2_ENST00000315032.8_Frame_Shift_Del_p.T6fs					MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						AGCGCTCGGACCCCCCTACCC	0.692																																						ENST00000402010.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(16-18)acfs		MAP/microtubule affinity-regulating kinase 2							20	26	24					11																	63606995		1770	3868	5638	SO:0001589	frameshift_variant	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63606995delC	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"ELKL motif kinase 1", "serine/threonine kinase", "protein-serine/threonine kinase", "Ser/Thr protein kinase PAR-1B"	600526	"ELKL motif kinase"	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000508192.1:c.17delC	11.37:g.63606995delC	ENSP00000425765:p.Thr6fs					MARK2_ENST00000315032.8_Frame_Shift_Del_p.T6fs|MARK2_ENST00000350490.7_Frame_Shift_Del_p.T6fs|MARK2_ENST00000377809.4_Frame_Shift_Del_p.T6fs|MARK2_ENST00000413835.2_Frame_Shift_Del_p.T6fs|MARK2_ENST00000377810.3_5'UTR|MARK2_ENST00000502399.3_Frame_Shift_Del_p.T6fs|MARK2_ENST00000361128.5_Frame_Shift_Del_p.T6fs|MARK2_ENST00000508192.1_Frame_Shift_Del_p.T6fs	p.T6fs	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN			1	596	+			6						Frame_Shift_Del	DEL	ENST00000508192.1	37	c.17delC	CCDS8051.2																																																																																				0.692	MARK2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360860.1	NM_017490		2	4						2	4	---	---	---	---	-	63606995	C	-	63606995	7	5	226	1	0	1	0	1	0	0	0	0	9313	507	18	0	19	0	MARK2	11	63606995	Frame_Shift_Del	DEL	C	TCGA-EL-A3H7-01A-11D-A21A-08	62325955	63606995	71399521	21	4771											
PRDM10	56980	broad.mit.edu	37	chr11	129812425	129812425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtgattctgggctggccGtacaaacatcatccagttac	10	11	2	1			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr11:129812425G>A	ENST00000360871.3	-	7	1093	c.862C>T	c.(862-864)Cgg>Tgg	p.R288W	PRDM10_ENST00000358825.5_Missense_Mutation_p.R288W|PRDM10_ENST00000528746.1_Missense_Mutation_p.R262W|PRDM10_ENST00000304538.6_Missense_Mutation_p.R202W|PRDM10_ENST00000526082.1_Missense_Mutation_p.R202W|PRDM10_ENST00000423662.2_Missense_Mutation_p.R202W	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	288	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TGGGCTGGCCGTACAAACATC	0.453																																						ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(862-864)Cgg>Tgg		PR domain containing 10							153	146	148					11																	129812425		2201	4297	6498	SO:0001583	missense	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129812425G>A	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"Zinc fingers, C2H2-type"	13995	protein-coding gene	gene with protein product	"PRDM zinc finger transcription factor", "PR-domain family member 7", "tristanin"					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.862C>T	11.37:g.129812425G>A	ENSP00000354118:p.Arg288Trp					PRDM10_ENST00000423662.2_Missense_Mutation_p.R202W|PRDM10_ENST00000526082.1_Missense_Mutation_p.R202W|PRDM10_ENST00000528746.1_Missense_Mutation_p.R262W|PRDM10_ENST00000360871.3_Missense_Mutation_p.R288W|PRDM10_ENST00000304538.6_Missense_Mutation_p.R202W	p.R288W	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	7	1093	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	288			SET.		B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	c.862C>T	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871275	0.72065	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	D;D;D;D;D;D;T	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;2.6	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.92724	0.7687	M	0.78344	2.41	0.54753	D	0.999987	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.99;0.999;0.996;0.99;0.996;0.993;0.996	D	0.93136	0.6537	10	0.87932	D	0	-21.7972	19.5216	0.95187	0.0:0.0:1.0:0.0	.	202;288;288;288;202;202;202	B7ZL72;Q9NQV6-4;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;.;PRD10_HUMAN;.;.;.	W	288;202;288;202;262;202;5	ENSP00000351686:R288W;ENSP00000302669:R202W;ENSP00000354118:R288W;ENSP00000398431:R202W;ENSP00000431262:R262W;ENSP00000432237:R202W;ENSP00000435940:R5W	ENSP00000302669:R202W	R	-	1	2	PRDM10	129317635	1.000000	0.71417	0.773000	0.31616	0.892000	0.51952	5.874000	0.69652	2.700000	0.92200	0.561000	0.74099	CGG		0.453	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		4	120	0	0	0	0.248553	0	4	120					A	129812425	G	A	129812425	3	1	226	1	0	0	0	0	1	0	0	0	12451	1144	40	1	2684	1	PRDM10	11	129812425	Missense_Mutation	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08	66205430	129812425	5194091	22	4772											
NACA	4666	broad.mit.edu	37	chr12	57111705	57111705	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctagacctccttttggggaGggaggagttgcagctggggt	18	7	0	1	rs2926746		TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr12:57111705G>A	ENST00000454682.1	-	3	3890	c.3609C>T	c.(3607-3609)ccC>ccT	p.P1203P	NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1203	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTTGGGGAGGGAGGAGTTG	0.642			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3607-3609)ccC>ccT		nascent polypeptide-associated complex alpha subunit							64	76	73					12																	57111705		1233	2868	4101	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57111705G>A	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3609C>T	12.37:g.57111705G>A						NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron	p.P1203P	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3890	-			0						Silent	SNP	ENST00000454682.1	37	c.3609C>T																																																																																					0.642	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		4	179	0	0	0	0.27861	0	4	179					A	57111705	G	A	57111705	2	1	226	1	0	0	0	0	0	0	0	1	10133	987	35	2		2	NACA	12	57111705	Silent	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08		57111705	76740190	23	4773											
SLC15A1	6564	broad.mit.edu	37	chr13	99354751	99354751	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacctgattccattttccccTttttctggcttctggttaag	6	11	2	1	rs550700409	byFrequency	TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr13:99354751T>C	ENST00000376503.5	-	18	1504	c.1449A>G	c.(1447-1449)aaA>aaG	p.K483K		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	483					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CATTTTCCCCTTTTTCTGGCT	0.284													T|||	6	0.00119808	0	0	5008	,	,		18498	0		0	False		,,,				2504	0.0061					ENST00000376503.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1447-1449)aaA>aaG		solute carrier family 15 (oligopeptide transporter), member 1	Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)						61	68	65					13																	99354751		2201	4296	6497	SO:0001819	synonymous_variant	6564				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	g.chr13:99354751T>C	U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"Solute carriers"	10920	protein-coding gene	gene with protein product	"peptide transporter HPEPT1", "bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)", "solute carrier family 15 oligopeptide transporter member 1"	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.1449A>G	13.37:g.99354751T>C							p.K483K	NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN			18	1504	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		483					Q5VW82	Silent	SNP	ENST00000376503.5	37	c.1449A>G	CCDS9489.1																																																																																				0.284	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073		3	118	0	0	0	0.184627	0	3	118					C	99354751	T	C	99354751	2	2	226	1	0	0	0	0	0	0	0	1	14398	1606	56	3		3	SLC15A1	13	99354751	Silent	SNP	T	TCGA-EL-A3H7-01A-11D-A21A-08		99354751	15815127	24	4774											
C13orf27	93081	broad.mit.edu	37	chr13	103419661	103419661	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgagcctgacacaaacaGtacaggctcttttaaacgaa	8	10	1	2			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr13:103419661G>A	ENST00000376032.4	-	5	655	c.466C>T	c.(466-468)Ctg>Ttg	p.L156L	TEX30_ENST00000376021.4_Silent_p.L115L|TEX30_ENST00000376027.1_Intron|TEX30_ENST00000487260.1_5'Flank|TEX30_ENST00000376022.1_Intron|TEX30_ENST00000376019.1_Silent_p.L115L|TEX30_ENST00000376029.3_Intron	NM_138779.3	NP_620134.3	Q5JUR7	TEX30_HUMAN	testis expressed 30	156										lung(1)|urinary_tract(1)	2						GACACAAACAGTACAGGCTCT	0.403																																						ENST00000376019.1																			0				lung(1)|urinary_tract(1)	2						c.(343-345)Ctg>Ttg		testis expressed 30							98	95	96					13																	103419661		2203	4300	6503	SO:0001819	synonymous_variant	93081							g.chr13:103419661G>A	AF070559	CCDS9503.2, CCDS66577.1, CCDS66578.1	13q33.1	2012-02-09	2012-02-09	2012-02-09	ENSG00000151287	ENSG00000151287			25188	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 27"	C13orf27			Standard	XM_005254097		Approved		uc001vpo.3	Q5JUR7	OTTHUMG00000017306	ENST00000376032.4:c.466C>T	13.37:g.103419661G>A						TEX30_ENST00000376021.4_Silent_p.L115L|TEX30_ENST00000376027.1_Intron|TEX30_ENST00000376032.4_Silent_p.L156L|TEX30_ENST00000376029.3_Intron|TEX30_ENST00000376022.1_Intron	p.L115L			Q5JUR7	CM027_HUMAN			3	1179	-			156					Q5JUR8|Q96KZ8	Silent	SNP	ENST00000376032.4	37	c.343C>T	CCDS9503.2																																																																																				0.403	TEX30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045691.4	NM_138779		3	88	0	0	0	0.184627	0	3	88					A	103419661	G	A	103419661	2	1	226	1	0	0	0	0	0	0	0	1	1723	1020	36	2		2	C13orf27	13	103419661	Silent	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08	4064910	103419661	11750217	25	4775											
ABHD4	63874	broad.mit.edu	37	chr14	23075393	23075393	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttgcagacttctttgaagatGataccatatcagagtatatt	7	6	2	5			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr14:23075393G>C	ENST00000428304.2	+	5	776	c.706G>C	c.(706-708)Gat>Cat	p.D236H	ABHD4_ENST00000544562.1_3'UTR	NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	236					lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		CTTTGAAGATGATACCATATC	0.517																																						ENST00000428304.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14						c.(706-708)Gat>Cat		abhydrolase domain containing 4							60	56	58					14																	23075393		2203	4300	6503	SO:0001583	missense	63874				lipid catabolic process		hydrolase activity	g.chr14:23075393G>C	AK022878	CCDS9572.1	14q11.1	2006-10-06			ENSG00000100439	ENSG00000100439		"Abhydrolase domain containing"	20154	protein-coding gene	gene with protein product							Standard	NM_022060		Approved	FLJ12816	uc001wgm.3	Q8TB40	OTTHUMG00000028686	ENST00000428304.2:c.706G>C	14.37:g.23075393G>C	ENSP00000414558:p.Asp236His					ABHD4_ENST00000544562.1_3'UTR	p.D236H	NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN		GBM - Glioblastoma multiforme(265;0.0153)	5	776	+	all_cancers(95;5.49e-05)		236					B4DDH7|Q9H9E0	Missense_Mutation	SNP	ENST00000428304.2	37	c.706G>C	CCDS9572.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338821	0.81911	.	.	ENSG00000100439	ENST00000428304;ENST00000216327	T;T	0.68765	-0.35;-0.35	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.79293	0.4421	M	0.66439	2.03	0.58432	D	0.999997	D	0.58620	0.983	D	0.63488	0.915	T	0.79850	-0.1629	10	0.52906	T	0.07	-14.1716	16.7765	0.85552	0.0:0.0:1.0:0.0	.	236	Q8TB40	ABHD4_HUMAN	H	236;170	ENSP00000414558:D236H;ENSP00000216327:D170H	ENSP00000216327:D170H	D	+	1	0	ABHD4	22145233	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	3.778000	0.55371	2.551000	0.86045	0.650000	0.86243	GAT		0.517	ABHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071623.3			3	28	0	0	0	0.150653	0	3	28					C	23075393	G	C	23075393	3	2	226	1	0	0	0	0	1	0	0	0	84	1290	45	4	724	4	ABHD4	14	23075393	Missense_Mutation	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08		23075393	84274147	26	4776											
TTLL5	23093	broad.mit.edu	37	chr14	76259282	76259282	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgtgctatctaaacaagcatCattcaggaatagccaaaaca	6	10	3	0			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr14:76259282C>T	ENST00000298832.9	+	27	3215	c.3010C>T	c.(3010-3012)Cat>Tat	p.H1004Y	TTLL5_ENST00000557636.1_Missense_Mutation_p.H1019Y|TTLL5_ENST00000554510.1_Missense_Mutation_p.H513Y|TTLL5_ENST00000556893.1_Missense_Mutation_p.H555Y	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1004					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)		AAACAAGCATCATTCAGGAAT	0.378																																						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.(3010-3012)Cat>Tat		tubulin tyrosine ligase-like family, member 5							82	70	74					14																	76259282		2203	4300	6503	SO:0001583	missense	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76259282C>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.3010C>T	14.37:g.76259282C>T	ENSP00000298832:p.His1004Tyr					TTLL5_ENST00000557636.1_Missense_Mutation_p.H1019Y|TTLL5_ENST00000556893.1_Missense_Mutation_p.H555Y|TTLL5_ENST00000554510.1_Missense_Mutation_p.H513Y	p.H1004Y	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	27	3215	+			1004					B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	37	c.3010C>T	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.760910	0.69763	.	.	ENSG00000119685	ENST00000418433;ENST00000286653;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	T;T;T;T	0.23348	4.01;4.09;1.91;1.91	5.81	4.9	0.64082	.	0.821409	0.11256	N	0.583094	T	0.34658	0.0905	L	0.27053	0.805	0.23506	N	0.997537	D;D;D;P	0.63880	0.97;0.991;0.993;0.949	P;P;P;B	0.61477	0.572;0.889;0.84;0.368	T	0.27938	-1.0059	10	0.19147	T	0.46	.	14.6888	0.69068	0.0:0.8551:0.1449:0.0	.	1019;78;555;1004	G3V2J9;F8W7N3;Q6EMB2-2;Q6EMB2	.;.;.;TTLL5_HUMAN	Y	691;78;1019;1004;555;555;513	ENSP00000450713:H1019Y;ENSP00000298832:H1004Y;ENSP00000452524:H555Y;ENSP00000451946:H513Y	ENSP00000286653:H78Y	H	+	1	0	TTLL5	75329035	0.998000	0.40836	0.996000	0.52242	0.996000	0.88848	2.245000	0.43133	1.407000	0.46875	0.655000	0.94253	CAT		0.378	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		12	37	0	0	0	0.457914	0	12	37					T	76259282	C	T	76259282	3	4	226	1	0	0	0	0	1	0	0	0	16727	826	29	2	3112	2	TTLL5	14	76259282	Missense_Mutation	SNP	C	TCGA-EL-A3H7-01A-11D-A21A-08	53183889	76259282	31090258	27	4777											
YY1	7528	broad.mit.edu	37	chr14	100743846	100743846	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggagacaggccctatgtgtGccccttcgatggttgtaata	12	10	0	1			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr14:100743846G>T	ENST00000262238.4	+	5	1414	c.1154G>T	c.(1153-1155)tGc>tTc	p.C385F	AL157871.2_ENST00000553954.1_RNA	NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	385	Binding to DNA.|Involved in masking transactivation domain.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|cell differentiation (GO:0030154)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromosome organization (GO:0051276)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to prostaglandin F (GO:0034696)|response to UV-C (GO:0010225)|RNA localization (GO:0006403)|spermatogenesis (GO:0007283)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|four-way junction DNA binding (GO:0000400)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.C385F(1)		cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				CCCTATGTGTGCCCCTTCGAT	0.463																																						ENST00000262238.4																			1	Substitution - Missense(1)	p.C385F(1)	lung(1)	cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11						c.(1153-1155)tGc>tTc		YY1 transcription factor							115	103	107					14																	100743846		2203	4300	6503	SO:0001583	missense	7528				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr14:100743846G>T	BC020324	CCDS9957.1	14q	2013-01-08			ENSG00000100811	ENSG00000100811		"INO80 complex subunits", "Zinc fingers, C2H2-type"	12856	protein-coding gene	gene with protein product	"INO80 complex subunit S", "Yin and Yang 1 protein"	600013				1655281, 7912122	Standard	NM_003403		Approved	NF-E1, DELTA, UCRBP, YIN-YANG-1, INO80S	uc001ygy.2	P25490	OTTHUMG00000150479	ENST00000262238.4:c.1154G>T	14.37:g.100743846G>T	ENSP00000262238:p.Cys385Phe						p.C385F	NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN			5	1414	+		Melanoma(154;0.152)	385			Involved in masking transactivation domain.		Q14935	Missense_Mutation	SNP	ENST00000262238.4	37	c.1154G>T	CCDS9957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.40|19.40	3.819772|3.819772	0.71028|0.71028	.|.	.|.	ENSG00000100811|ENSG00000100811	ENST00000554804|ENST00000262238	.|D	.|0.85088	.|-1.94	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.000000	.|0.85682	.|U	.|0.000000	D|D	0.95001|0.95001	0.8382|0.8382	H|H	0.94423|0.94423	3.535|3.535	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.95618|0.95618	0.8678|0.8678	5|10	.|0.87932	.|D	.|0	.|.	20.0965|20.0965	0.97849|0.97849	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|385	.|P25490	.|TYY1_HUMAN	S|F	161|385	.|ENSP00000262238:C385F	.|ENSP00000262238:C385F	A|C	+|+	1|2	0|0	YY1|YY1	99813599|99813599	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.779000|9.779000	0.99018|0.99018	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	GCC|TGC		0.463	YY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318277.1	NM_003403		6	83	1	0	0.0293803	0.248553	0.0323184	6	83					T	100743846	G	T	100743846	3	4	226	1	0	0	0	0	1	0	0	0	17504	1319	46	4	1172	4	YY1	14	100743846	Missense_Mutation	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08	24484564	100743846	6605694	28	4778											
USP10	9100	broad.mit.edu	37	chr16	84792342	84792342	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agttgctggagaatgtaaccCtaatccataaaccagtgtcg	9	9	0	1	rs558711355		TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr16:84792342C>G	ENST00000219473.7	+	5	1326	c.1213C>G	c.(1213-1215)Cta>Gta	p.L405V	USP10_ENST00000570191.1_Missense_Mutation_p.L409V	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	405					autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						GAATGTAACCCTAATCCATAA	0.438																																						ENST00000219473.7																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						c.(1213-1215)Cta>Gta		ubiquitin specific peptidase 10							154	147	149					16																	84792342		1918	4112	6030	SO:0001583	missense	9100				DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:84792342C>G	D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"Ubiquitin-specific peptidases"	12608	protein-coding gene	gene with protein product		609818	"ubiquitin specific protease 10"			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.1213C>G	16.37:g.84792342C>G	ENSP00000219473:p.Leu405Val					USP10_ENST00000570191.1_Missense_Mutation_p.L409V	p.L405V	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN			5	1326	+			405					B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Missense_Mutation	SNP	ENST00000219473.7	37	c.1213C>G	CCDS45537.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414885	0.62511	.	.	ENSG00000103194	ENST00000219473	T	0.07688	3.17	5.48	4.49	0.54785	.	0.424945	0.23585	N	0.046618	T	0.18923	0.0454	L	0.59436	1.845	0.54753	D	0.999989	D;P	0.57571	0.98;0.64	P;P	0.58970	0.849;0.517	T	0.02781	-1.1111	10	0.22706	T	0.39	-11.2382	12.7228	0.57152	0.0:0.916:0.0:0.084	.	409;405	Q14694-3;Q14694	.;UBP10_HUMAN	V	405	ENSP00000219473:L405V	ENSP00000219473:L405V	L	+	1	2	USP10	83349843	1.000000	0.71417	0.986000	0.45419	0.940000	0.58332	2.315000	0.43752	1.353000	0.45828	-0.355000	0.07637	CTA		0.438	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1			5	137	0	0	0	0.27861	0	5	137					G	84792342	C	G	84792342	3	3	226	1	0	0	0	0	1	0	0	0	17038	680	24	4	1231	4	USP10	16	84792342	Missense_Mutation	SNP	C	TCGA-EL-A3H7-01A-11D-A21A-08		84792342	5562411	29	4779											
INTS2	57508	broad.mit.edu	37	chr17	59989322	59989322	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	accatgcctcggaccttgagGgcctgagaaggattcatttt	11	10	1	2			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr17:59989322G>C	ENST00000444766.3	-	6	858	c.783C>G	c.(781-783)gcC>gcG	p.A261A	INTS2_ENST00000251334.6_Silent_p.A253A	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	261					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						GGACCTTGAGGGCCTGAGAAG	0.438																																						ENST00000444766.3																			0				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						c.(781-783)gcC>gcG		integrator complex subunit 2							162	160	161					17																	59989322		1910	4125	6035	SO:0001819	synonymous_variant	57508				snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	g.chr17:59989322G>C	AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"KIAA1287"	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.783C>G	17.37:g.59989322G>C						INTS2_ENST00000251334.6_Silent_p.A253A	p.A261A	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN			6	858	-			261					Q9ULD3	Silent	SNP	ENST00000444766.3	37	c.783C>G	CCDS45750.1																																																																																				0.438	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	NM_020748		9	120	0	0	0	0.479597	0	9	120					C	59989322	G	C	59989322	2	2	226	1	0	0	0	0	0	0	0	1	7778	1219	43	4		4	INTS2	17	59989322	Silent	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08		59989322	21205888	30	4780											
KLHL14	57565	broad.mit.edu	37	chr18	30349967	30349967	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttggtctcctccaggccGtgcagcgcggcgatcttgca	12	14	3	0			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr18:30349967G>A	ENST00000359358.4	-	2	1026	c.588C>T	c.(586-588)caC>caT	p.H196H	AC012123.1_ENST00000426194.1_Intron|KLHL14_ENST00000358095.4_Silent_p.H196H	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	196						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CCTCCAGGCCGTGCAGCGCGG	0.612																																						ENST00000359358.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						c.(586-588)caC>caT		kelch-like family member 14							126	101	110					18																	30349967		2203	4300	6503	SO:0001819	synonymous_variant	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30349967G>A	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"Kelch-like", "BTB/POZ domain containing"	29266	protein-coding gene	gene with protein product	"printor"	613772	"kelch-like 14 (Drosophila)"			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.588C>T	18.37:g.30349967G>A						KLHL14_ENST00000358095.4_Silent_p.H196H|AC012123.1_ENST00000426194.1_Intron	p.H196H	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN			2	1026	-			196					A6NNW1|B4DHA0|Q8WU41	Silent	SNP	ENST00000359358.4	37	c.588C>T	CCDS32813.1																																																																																				0.612	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			4	158	0	0	0	0.184627	0	4	158					A	30349967	G	A	30349967	2	1	226	1	0	0	0	0	0	0	0	1	8370	1136	40	1		1	KLHL14	18	30349967	Silent	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08		30349967	47727281	31	4781											
SETBP1	26040	broad.mit.edu	37	chr18	42530643	42530643	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggaatcaccatgagcagtgaAgtagttaacaggatactttc	10	7	1	2			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr18:42530643A>T	ENST00000282030.5	+	4	1634	c.1338A>T	c.(1336-1338)gaA>gaT	p.E446D		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	446						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGAGCAGTGAAGTAGTTAACA	0.453									Schinzel-Giedion syndrome																													ENST00000282030.5																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104						c.(1336-1338)gaA>gaT		SET binding protein 1							85	87	87					18																	42530643		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42530643A>T	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.1338A>T	18.37:g.42530643A>T	ENSP00000282030:p.Glu446Asp						p.E446D	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	1634	+			446					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.1338A>T	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	A	8.178	0.793112	0.16327	.	.	ENSG00000152217	ENST00000282030	T	0.69040	-0.37	6.08	3.56	0.40772	.	0.159699	0.56097	N	0.000040	T	0.50103	0.1596	L	0.29908	0.895	0.26631	N	0.972476	B	0.10296	0.003	B	0.09377	0.004	T	0.34750	-0.9816	10	0.29301	T	0.29	.	8.4133	0.32657	0.6896:0.2458:0.0646:0.0	.	446	Q9Y6X0	SETBP_HUMAN	D	446	ENSP00000282030:E446D	ENSP00000282030:E446D	E	+	3	2	SETBP1	40784641	1.000000	0.71417	0.992000	0.48379	0.439000	0.31926	1.631000	0.37092	0.467000	0.27218	0.533000	0.62120	GAA		0.453	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		6	98	0	0	0	0.248553	0	6	98					T	42530643	A	T	42530643	3	4	226	1	0	0	0	0	1	0	0	0	14129	69	3	5	1541	5	SETBP1	18	42530643	Missense_Mutation	SNP	A	TCGA-EL-A3H7-01A-11D-A21A-08	12180676	42530643	35546605	32	4782											
DMPK	1760	broad.mit.edu	37	chr19	46278224	46278224	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctgagggccatgcaggaGtaggagtagcccacaaaagg	14	9	0	1	rs138445739		TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr19:46278224G>A	ENST00000291270.4	-	9	1340	c.1215C>T	c.(1213-1215)taC>taT	p.Y405Y	DMPK_ENST00000595361.1_5'UTR|DMPK_ENST00000447742.2_Silent_p.Y400Y|DMPK_ENST00000600757.1_Silent_p.Y410Y|DMPK_ENST00000354227.5_Silent_p.Y400Y|AC074212.6_ENST00000591530.1_RNA|DMPK_ENST00000458663.2_Silent_p.Y400Y|AC074212.6_ENST00000586251.1_RNA|AC074212.6_ENST00000590076.1_RNA|DMPK_ENST00000343373.4_Silent_p.Y415Y|AC074212.6_ENST00000586498.1_RNA	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	405	AGC-kinase C-terminal.				cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CCATGCAGGAGTAGGAGTAGC	0.617																																					Esophageal Squamous(35;307 869 9153 24033 28903)	ENST00000600757.1																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16						c.(1228-1230)taC>taT		dystrophia myotonica-protein kinase		G	,,,	1,4405	2.1+/-5.4	0,1,2202	87	59	69		1200,1200,1245,1215	3.4	1.0	19	dbSNP_134	69	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DMPK	NM_001081560.1,NM_001081562.1,NM_001081563.1,NM_004409.3	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	400/625,400/626,415/640,405/630	46278224	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1760				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:46278224G>A	L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"dystrophia myotonica 1", "DM protein kinase", "myotonin protein kinase A", "myotonic dystrophy associated protein kinase", "thymopoietin homolog"	605377	"dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.1215C>T	19.37:g.46278224G>A						DMPK_ENST00000458663.2_Silent_p.Y400Y|DMPK_ENST00000447742.2_Silent_p.Y400Y|DMPK_ENST00000343373.4_Silent_p.Y415Y|DMPK_ENST00000354227.5_Silent_p.Y400Y|DMPK_ENST00000595361.1_5'UTR|DMPK_ENST00000291270.4_Silent_p.Y405Y	p.Y410Y			Q09013	DMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)	8	1917	-		Ovarian(192;0.0308)|all_neural(266;0.112)	415			AGC-kinase C-terminal.		E5KR08|Q16205|Q6P5Z6	Silent	SNP	ENST00000291270.4	37	c.1230C>T	CCDS12674.1																																																																																				0.617	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1	NM_004409		3	70	0	0	0	0.150653	0	3	70					A	46278224	G	A	46278224	2	1	226	1	0	0	0	0	0	0	0	1	4584	1024	36	2		2	DMPK	19	46278224	Silent	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08		46278224	12850759	33	4783											
TM9SF4	9777	broad.mit.edu	37	chr20	30753110	30753110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggccgcagctggacatcgtgGagttcatcccctctctcctc	10	16	2	0			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr20:30753110G>A	ENST00000398022.2	+	18	2027	c.1792G>A	c.(1792-1794)Gag>Aag	p.E598K	TM9SF4_ENST00000217315.5_Missense_Mutation_p.E581K	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	598						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGACATCGTGGAGTTCATCCC	0.562																																						ENST00000217315.5																			0				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1741-1743)Gag>Aag		transmembrane 9 superfamily protein member 4							282	197	226					20																	30753110		2203	4300	6503	SO:0001583	missense	9777					integral to membrane		g.chr20:30753110G>A	BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.1792G>A	20.37:g.30753110G>A	ENSP00000381104:p.Glu598Lys					TM9SF4_ENST00000398022.2_Missense_Mutation_p.E598K	p.E581K			Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		18	2081	+			598					B0QYT7|Q9NUA3	Missense_Mutation	SNP	ENST00000398022.2	37	c.1741G>A	CCDS13196.2	.	.	.	.	.	.	.	.	.	.	G	13.25	2.180012	0.38511	.	.	ENSG00000101337	ENST00000398022;ENST00000217315	T;T	0.44083	0.93;0.93	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.35451	0.0932	N	0.21373	0.66	0.80722	D	1	B;P	0.44281	0.009;0.831	B;P	0.48425	0.03;0.577	T	0.07158	-1.0787	10	0.02654	T	1	-16.1477	17.7294	0.88373	0.0:0.0:1.0:0.0	.	505;598	B4DH88;Q92544	.;TM9S4_HUMAN	K	598;581	ENSP00000381104:E598K;ENSP00000217315:E581K	ENSP00000217315:E581K	E	+	1	0	TM9SF4	30216771	1.000000	0.71417	0.980000	0.43619	0.727000	0.41649	7.664000	0.83830	2.404000	0.81709	0.561000	0.74099	GAG		0.562	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		30	191	0	0	0	0.827153	0	30	191					A	30753110	G	A	30753110	3	1	226	1	0	0	0	0	1	0	0	0	15977	1175	41	2	1862	2	TM9SF4	20	30753110	Missense_Mutation	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08		30753110	32272410	34	4784											
IFNAR2	3455	broad.mit.edu	37	chr21	34635187	34635187	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtcatttacatcaacagaaaGaagaaagtgtgggattataa	9	4	2	3			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr21:34635187G>C	ENST00000342136.4	+	9	1256	c.930G>C	c.(928-930)aaG>aaC	p.K310N	IFNAR2_ENST00000382241.3_Missense_Mutation_p.K310N|IFNAR2_ENST00000404220.3_3'UTR|IL10RB-AS1_ENST00000411998.1_RNA|AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000342101.3_3'UTR			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	310					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|type I interferon binding (GO:0019962)|type I interferon receptor activity (GO:0004905)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					"""Interferon Alfa-2a(DB00034)|""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"	TCAACAGAAAGAAGAAAGTGT	0.428																																						ENST00000342136.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11						c.(928-930)aaG>aaC		interferon (alpha, beta and omega) receptor 2	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)						107	113	111					21																	34635187		2203	4300	6503	SO:0001583	missense	3455				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity	g.chr21:34635187G>C		CCDS13621.1, CCDS13622.1, CCDS74782.1	21q22.1	2010-08-17			ENSG00000159110	ENSG00000159110		"Interferons"	5433	protein-coding gene	gene with protein product		602376		IFNABR		8181059	Standard	NM_207585		Approved		uc002yrd.3	P48551	OTTHUMG00000065127	ENST00000342136.4:c.930G>C	21.37:g.34635187G>C	ENSP00000343957:p.Lys310Asn					AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000382241.3_Missense_Mutation_p.K310N|IFNAR2_ENST00000342101.3_3'UTR|IFNAR2_ENST00000404220.3_3'UTR	p.K310N			P48551	INAR2_HUMAN			9	1256	+			310					A8KAJ4|D3DSE8|D3DSE9|Q15467|Q6FHD7	Missense_Mutation	SNP	ENST00000342136.4	37	c.930G>C	CCDS13621.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.549430	0.65311	.	.	ENSG00000159110	ENST00000382241;ENST00000342136	T;T	0.51574	0.7;0.7	4.94	4.06	0.47325	.	1.234140	0.05334	N	0.528790	T	0.64659	0.2618	L	0.54323	1.7	0.40637	D	0.981911	D	0.89917	1.0	D	0.68353	0.957	T	0.51012	-0.8759	10	0.72032	D	0.01	.	9.3445	0.38100	0.0974:0.0:0.9026:0.0	.	310	P48551	INAR2_HUMAN	N	310	ENSP00000371676:K310N;ENSP00000343957:K310N	ENSP00000343957:K310N	K	+	3	2	IFNAR2	33557057	1.000000	0.71417	0.996000	0.52242	0.902000	0.53008	2.905000	0.48727	1.445000	0.47624	-0.251000	0.11542	AAG		0.428	IFNAR2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139825.1			18	127	0	0	0	0.639603	0	18	127					C	34635187	G	C	34635187	3	2	226	1	0	0	0	0	1	0	0	0	7545	933	33	4	1120	4	IFNAR2	21	34635187	Missense_Mutation	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08		34635187	13494708	35	4785											
TUBGCP6	85378	broad.mit.edu	37	chr22	50659212	50659212	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccaagctgatgctggcatcAgacacgtgtccatgggtgtt	12	11	1	2	rs141527317	byFrequency	TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr22:50659212A>G	ENST00000248846.5	-	16	3680	c.3576T>C	c.(3574-3576)tcT>tcC	p.S1192S	TUBGCP6_ENST00000439308.2_Silent_p.S1192S|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1192	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGCTGGCATCAGACACGTGTC	0.617													N|||	3	0.000599042	0	0	5008	,	,		21823	0.002		0	False		,,,				2504	0.001					ENST00000439308.2																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(3574-3576)tcT>tcC		tubulin, gamma complex associated protein 6		G		1,4405		0,1,2202	74	68	70		3576	-9.2	0.0	22	dbSNP_134	70	1,8599		0,1,4299	no	coding-synonymous	TUBGCP6	NM_020461.3		0,2,6501	GG,GA,AA		0.0116,0.0227,0.0154		1192/1820	50659212	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50659212A>G	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.3576T>C	22.37:g.50659212A>G						TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Silent_p.S1192S	p.S1192S	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	16	4068	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1192			9 X 27 AA tandem repeats.		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	c.3576T>C	CCDS14087.1																																																																																				0.617	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		6	143	0	0	0	0.27861	0	6	143					G	50659212	A	G	50659212	2	3	226	1	0	0	0	0	0	0	0	1	16767	175	7	3		3	TUBGCP6	22	50659212	Silent	SNP	A	TCGA-EL-A3H7-01A-11D-A21A-08		50659212	645354	36	4786											
MAGEB6	158809	broad.mit.edu	37	chrX	26212431	26212431	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagcttcacccactggctcGcctgatgcaggtgtttcagg	13	12	2	1			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chrX:26212431G>T	ENST00000379034.1	+	2	617	c.468G>T	c.(466-468)tcG>tcT	p.S156S		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	156	Ser-rich.							p.S156S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CCACTGGCTCGCCTGATGCAG	0.507																																						ENST00000379034.1																			1	Substitution - coding silent(1)	p.S156S(1)	lung(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(466-468)tcG>tcT		melanoma antigen family B, 6							56	52	53					X																	26212431		2202	4300	6502	SO:0001819	synonymous_variant	158809							g.chrX:26212431G>T	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.468G>T	X.37:g.26212431G>T							p.S156S	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	617	+			156			Ser-rich.		Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	c.468G>T	CCDS14217.1																																																																																				0.507	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		6	98	1	0	1.06961e-07	0.27861	1.25167e-07	6	98					T	26212431	G	T	26212431	2	4	226	1	0	0	0	0	0	0	0	1	9179	1074	38	4		4	MAGEB6	23	26212431	Silent	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08		26212431	129058129	37	4787											
ZNF41	7592	broad.mit.edu	37	chrX	47308077	47308077	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaggtctgatctctggaaAaaggcttttccacattcact	8	9	3	2			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chrX:47308077A>G	ENST00000377065.4	-	5	1731	c.1092T>C	c.(1090-1092)ttT>ttC	p.F364F	ZNF41_ENST00000465311.1_5'Flank|ZNF41_ENST00000397050.2_Silent_p.F374F|ZNF41_ENST00000313116.7_Silent_p.F364F	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	406					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				ATCTCTGGAAAAAGGCTTTTC	0.403																																						ENST00000377065.4																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24						c.(1090-1092)ttT>ttC		zinc finger protein 41							53	52	52					X																	47308077		2203	4300	6503	SO:0001819	synonymous_variant	7592					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47308077A>G	X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"Zinc fingers, C2H2-type", "-"	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.1092T>C	X.37:g.47308077A>G						ZNF41_ENST00000397050.2_Silent_p.F374F|ZNF41_ENST00000313116.7_Silent_p.F364F	p.F364F	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN			5	1731	-		all_lung(315;0.000129)	406					A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Silent	SNP	ENST00000377065.4	37	c.1092T>C	CCDS14279.1																																																																																				0.403	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380		23	44	0	0	0	0.681144	0	23	44					G	47308077	A	G	47308077	2	3	226	1	0	0	0	0	0	0	0	1	17886	11	1	3		3	ZNF41	23	47308077	Silent	SNP	A	TCGA-EL-A3H7-01A-11D-A21A-08	21095646	47308077	107962483	38	4788											
FAM120C	54954	broad.mit.edu	37	chrX	54209023	54209023	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcggtggaggggtgcccttGttgcccacgtgtcccacgat	15	13	0	0	rs144201658		TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chrX:54209023G>T	ENST00000375180.2	-	1	665	c.609C>A	c.(607-609)aaC>aaA	p.N203K	FAM120C_ENST00000477084.1_Missense_Mutation_p.N203K|FAM120C_ENST00000497680.1_5'UTR|FAM120C_ENST00000328235.4_Missense_Mutation_p.N203K	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	203							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GGGTGCCCTTGTTGCCCACGT	0.706																																						ENST00000375180.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(607-609)aaC>aaA		family with sequence similarity 120C			LYS/ASN,LYS/ASN	1,3829		0,1,1631,566	31	24	26		609,609	2.7	1.0	X	dbSNP_134	26	0,6714		0,0,2424,1866	no	missense,missense	FAM120C	NM_017848.4,NM_198456.1	94,94	0,1,4055,2432	TT,TG,GG,G		0.0,0.0261,0.0095	benign,benign	203/1097,203/239	54209023	1,10543	2198	4290	6488	SO:0001583	missense	54954							g.chrX:54209023G>T	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"chromosome X open reading frame 17"	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.609C>A	X.37:g.54209023G>T	ENSP00000364324:p.Asn203Lys					FAM120C_ENST00000477084.1_Missense_Mutation_p.N203K|FAM120C_ENST00000497680.1_5'UTR|FAM120C_ENST00000328235.4_Missense_Mutation_p.N203K	p.N203K	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN			1	665	-			203					B2RMT7	Missense_Mutation	SNP	ENST00000375180.2	37	c.609C>A	CCDS14356.1	.	.	.	.	.	.	.	.	.	.	g	14.76	2.632612	0.47049	2.61E-4	0.0	ENSG00000184083	ENST00000375180;ENST00000328235;ENST00000477084	T;T;T	0.48201	0.82;0.82;0.82	3.62	2.66	0.31614	.	0.510568	0.20852	N	0.084506	T	0.32585	0.0834	L	0.43152	1.355	0.35836	D	0.825642	P;B;B	0.34462	0.454;0.005;0.292	B;B;B	0.32805	0.137;0.008;0.153	T	0.27938	-1.0059	10	0.22109	T	0.4	.	6.0588	0.19826	0.1211:0.1937:0.6852:0.0	.	203;203;203	F8W881;Q9NX05-2;Q9NX05	.;.;F120C_HUMAN	K	203	ENSP00000364324:N203K;ENSP00000329896:N203K;ENSP00000420718:N203K	ENSP00000329896:N203K	N	-	3	2	FAM120C	54225748	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	4.087000	0.57671	1.811000	0.52892	0.513000	0.50165	AAC		0.706	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		20	39	1	0	7.41877e-09	0.608945	8.87027e-09	20	39					T	54209023	G	T	54209023	3	4	226	1	0	0	0	0	1	0	0	0	5418	1368	48	4	2767	4	FAM120C	23	54209023	Missense_Mutation	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08	6900946	54209023	101061537	39	4789											
CACNA1E	777	broad.mit.edu	37	chr1	181735734	181735734	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttttcttcatttatgccaTcattgggatgcaggtgagct	10	8	3	1			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr1:181735734T>C	ENST00000367573.2	+	35	4868	c.4868T>C	c.(4867-4869)aTc>aCc	p.I1623T	CACNA1E_ENST00000367567.4_Missense_Mutation_p.I1230T|CACNA1E_ENST00000526775.1_Missense_Mutation_p.I1604T|CACNA1E_ENST00000358338.5_Missense_Mutation_p.I1555T|CACNA1E_ENST00000357570.5_Missense_Mutation_p.I1574T|CACNA1E_ENST00000360108.3_Missense_Mutation_p.I1604T|CACNA1E_ENST00000367570.1_Missense_Mutation_p.I1623T	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1623					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)			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						ATTTATGCCATCATTGGGATG	0.478																																						ENST00000526775.1																			0				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.(4810-4812)aTc>aCc		calcium channel, voltage-dependent, R type, alpha 1E subunit							143	126	131					1																	181735734		1919	4138	6057	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181735734T>C	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.4868T>C	1.37:g.181735734T>C	ENSP00000356545:p.Ile1623Thr					CACNA1E_ENST00000367570.1_Missense_Mutation_p.I1623T|CACNA1E_ENST00000357570.5_Missense_Mutation_p.I1574T|CACNA1E_ENST00000367573.2_Missense_Mutation_p.I1623T|CACNA1E_ENST00000360108.3_Missense_Mutation_p.I1604T|CACNA1E_ENST00000358338.5_Missense_Mutation_p.I1555T|CACNA1E_ENST00000367567.4_Missense_Mutation_p.I1230T	p.I1604T	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			34	4976	+			1623					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.4811T>C	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.629600	0.87660	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98947	-5.26;-5.26;-5.26;-5.26;-5.26;-5.26;-5.26	5.56	5.56	0.83823	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99306	0.9757	M	0.93106	3.38	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.996	D;D;D	0.80764	0.984;0.994;0.99	D	0.98934	1.0788	10	0.87932	D	0	.	15.3885	0.74723	0.0:0.0:0.0:1.0	.	1604;1623;1623	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	T	1623;1604;1574;1555;1230;1604;1623	ENSP00000356542:I1623T;ENSP00000434814:I1604T;ENSP00000350183:I1574T;ENSP00000351101:I1555T;ENSP00000356539:I1230T;ENSP00000353222:I1604T;ENSP00000356545:I1623T	ENSP00000350183:I1574T	I	+	2	0	CACNA1E	180002357	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.887000	0.87295	2.118000	0.64928	0.533000	0.62120	ATC		0.478	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		10	9	0	0	0	1	0	10	9					C	181735734	T	C	181735734	3	2	227	1	0	0	0	0	1	0	0	0	2542	1435	50	3	5006	3	CACNA1E	1	181735734	Missense_Mutation	SNP	T	TCGA-EL-A3H8-01A-11D-A20C-08		181735734	67514887	1	4790											
SNAP47	116841	broad.mit.edu	37	chr1	227935556	227935556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcaggttcatgactgacaGcactggagagattctggtca	12	9	4	3			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr1:227935556G>A	ENST00000366759.4	+	2	668	c.254G>A	c.(253-255)aGc>aAc	p.S85N	SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000315781.5_Missense_Mutation_p.S85N|SNAP47-AS1_ENST00000413347.2_RNA	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	85				DST -> TRP (in Ref. 5; AAH01332). {ECO:0000305}.	long-term synaptic potentiation (GO:0060291)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						ATGACTGACAGCACTGGAGAG	0.527																																						ENST00000366759.4																			0				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(253-255)aGc>aAc		synaptosomal-associated protein, 47kDa							62	55	58					1																	227935556		2203	4300	6503	SO:0001583	missense	116841					endomembrane system|membrane|perinuclear region of cytoplasm		g.chr1:227935556G>A	AY090635	CCDS1562.1	1q42.13	2013-10-11	2008-10-27	2008-10-27	ENSG00000143740	ENSG00000143740			30669	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 142"	C1orf142		16621800	Standard	NM_053052		Approved	SVAP1, SNAP-47	uc001hrf.2	Q5SQN1	OTTHUMG00000037697	ENST00000366759.4:c.254G>A	1.37:g.227935556G>A	ENSP00000355721:p.Ser85Asn					SNAP47_ENST00000315781.5_Missense_Mutation_p.S85N|SNAP47_ENST00000366760.1_Intron	p.S85N	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN			2	668	+			85	DST -> TRP (in Ref. 5; AAH01332).				B6EDE0|Q5HYB5|Q5TBZ3|Q8N558|Q8TB31|Q8TCW8|Q8WV46|Q96CQ3|Q96FE1|Q96I66|Q96NU3|Q9BT10|Q9BVB2	Missense_Mutation	SNP	ENST00000366759.4	37	c.254G>A	CCDS1562.1	.	.	.	.	.	.	.	.	.	.	G	4.450	0.083409	0.08533	.	.	ENSG00000143740	ENST00000366759;ENST00000315781	T;T	0.15603	2.41;2.41	4.08	1.79	0.24919	.	0.617332	0.17694	N	0.165165	T	0.11281	0.0275	L	0.34521	1.04	0.09310	N	1	B;B	0.29805	0.257;0.257	B;B	0.29077	0.098;0.098	T	0.21930	-1.0231	10	0.40728	T	0.16	-13.8919	5.629	0.17499	0.6285:0.0:0.3715:0.0	.	85;85	Q5SQN1;Q5SQN1-2	SNP47_HUMAN;.	N	85	ENSP00000355721:S85N;ENSP00000314157:S85N	ENSP00000314157:S85N	S	+	2	0	SNAP47	226002179	1.000000	0.71417	0.001000	0.08648	0.029000	0.11900	2.933000	0.48948	0.207000	0.20607	0.591000	0.81541	AGC		0.527	SNAP47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091961.1	NM_053052		3	37	0	0	0	1	0	3	37					A	227935556	G	A	227935556	3	1	227	1	0	0	0	0	1	0	0	0	14832	971	34	2	260	2	SNAP47	1	227935556	Missense_Mutation	SNP	G	TCGA-EL-A3H8-01A-11D-A20C-08	46199822	227935556	21315065	2	4791											
LRP1B	53353	broad.mit.edu	37	chr2	141245239	141245239	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgcgactgccattgggtcGgctagaatcgatccaataga	11	9	0	2			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr2:141245239G>A	ENST00000389484.3	-	58	10161	c.9190C>T	c.(9190-9192)Cga>Tga	p.R3064*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3064					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)		CCATTGGGTCGGCTAGAATCG	0.313										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.(9190-9192)Cga>Tga		low density lipoprotein receptor-related protein 1B							93	95	94					2																	141245239		2203	4292	6495	SO:0001587	stop_gained	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141245239G>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.9190C>T	2.37:g.141245239G>A	ENSP00000374135:p.Arg3064*	TSP Lung(27;0.18)					p.R3064*	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)	58	10161	-		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)	3064					Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	SNP	ENST00000389484.3	37	c.9190C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	55	24.185479	0.99959	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	5.77	1.45	0.22620	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	9.9117	0.41411	0.0797:0.0:0.2109:0.7094	.	.	.	.	X	3064;3002	.	ENSP00000374135:R3064X	R	-	1	2	LRP1B	140961709	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	3.054000	0.49908	0.264000	0.21851	0.650000	0.86243	CGA		0.313	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		6	86	0	0	0	1	0	6	86					A	141245239	G	A	141245239	4	1	227	1	0	0	0	0	0	1	0	0	8955	1124	39	1	4745	1	LRP1B	2	141245239	Nonsense_Mutation	SNP	G	TCGA-EL-A3H8-01A-11D-A20C-08		141245239	101954134	3	4792											
LRIG1	26018	broad.mit.edu	37	chr3	66436625	66436627	+	In_Frame_Del	DEL	GCT	GCT	-													caggcaaaggtcatgggggaGctgctgctgctggctgctga							TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr3:66436625_66436627delGCT	ENST00000273261.3	-	13	2091_2093	c.1567_1569delAGC	c.(1567-1569)agcdel	p.S524del	LRIG1_ENST00000383703.3_In_Frame_Del_p.S548del|SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000496559.2_5'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	524	Ig-like C2-type 1.|Poly-Ser.				innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCATGGGGGAGCTGCTGCTGCTG	0.547																																						ENST00000383703.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(1639-1641)del		leucine-rich repeats and immunoglobulin-like domains 1																																				SO:0001651	inframe_deletion	26018					integral to membrane		g.chr3:66436625_66436627delGCT	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.1567_1569delAGC	3.37:g.66436634_66436636delGCT	ENSP00000273261:p.Ser524del					LRIG1_ENST00000273261.3_In_Frame_Del_p.S524del|LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_3'UTR	p.S548del			Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	14	2242_2244	-		Lung NSC(201;0.0101)	524			Ig-like C2-type 1.		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	In_Frame_Del	DEL	ENST00000273261.3	37	c.1639_1641delAGC	CCDS33783.1																																																																																				0.547	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		7	584						7	584	---	---	---	---	-	66436627	GCT	-	66436625	7	5	227	1	0	1	0	1	0	0	0	0	8944	962	34	0	1740	0	LRIG1	3	66436625	In_Frame_Del	DEL	GCT	TCGA-EL-A3H8-01A-11D-A20C-08		66436625	131585805	4	4793											
UROC1	131669	broad.mit.edu	37	chr3	126226844	126226844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacgagccgtggggcactgCggctgctgggaaagaggcca	18	10	0	2	rs369545977		TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr3:126226844C>T	ENST00000290868.2	-	5	559	c.506G>A	c.(505-507)cGc>cAc	p.R169H	UROC1_ENST00000383579.3_Missense_Mutation_p.R169H	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	169					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TGGGGCACTGCGGCTGCTGGG	0.597																																						ENST00000290868.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39						c.(505-507)cGc>cAc		urocanate hydratase 1		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	72	75	74		506,506	3.0	0.6	3		74	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	UROC1	NM_001165974.1,NM_144639.2	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	169/737,169/677	126226844	1,13005	2203	4300	6503	SO:0001583	missense	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126226844C>T	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"urocanase 1"	613012	"urocanase domain containing 1"			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.506G>A	3.37:g.126226844C>T	ENSP00000290868:p.Arg169His					UROC1_ENST00000383579.3_Missense_Mutation_p.R169H	p.R169H	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	5	559	-			169					E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	ENST00000290868.2	37	c.506G>A	CCDS3038.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.970815	0.34754	0.0	1.16E-4	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.43688	0.94;0.94	3.91	3.03	0.35002	Urocanase domain (2);	0.239792	0.42682	D	0.000665	T	0.44498	0.1296	M	0.72118	2.19	0.19575	N	0.999968	P;P	0.46512	0.832;0.879	B;B	0.43623	0.213;0.425	T	0.44283	-0.9338	10	0.87932	D	0	-9.3888	11.3057	0.49334	0.0:0.1976:0.8024:0.0	.	169;169	E9PE13;Q96N76	.;HUTU_HUMAN	H	169	ENSP00000290868:R169H;ENSP00000373073:R169H	ENSP00000290868:R169H	R	-	2	0	UROC1	127709534	0.954000	0.32549	0.601000	0.28877	0.033000	0.12548	1.450000	0.35134	0.979000	0.38497	-0.340000	0.08031	CGC		0.597	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		13	153	0	0	0	1	0	13	153					T	126226844	C	T	126226844	3	4	227	1	0	0	0	0	1	0	0	0	17025	768	27	1	1772	1	UROC1	3	126226844	Missense_Mutation	SNP	C	TCGA-EL-A3H8-01A-11D-A20C-08	59790219	126226844	71795586	5	4794											
BRIX1	55299	broad.mit.edu	37	chr5	34922857	34922857	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgaaaggttctcggccccTtttgtcttttgaccctgtaa	8	10	2	2			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr5:34922857T>C	ENST00000336767.5	+	6	857	c.494T>C	c.(493-495)cTt>cCt	p.L165P	BRIX1_ENST00000506023.1_3'UTR	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN	BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)	165	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				ribosome biogenesis (GO:0042254)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|large_intestine(2)|lung(1)	4						TCTCGGCCCCTTTTGTCTTTT	0.343																																						ENST00000336767.5																			0				central_nervous_system(1)|large_intestine(2)|lung(1)	4						c.(493-495)cTt>cCt		BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)							104	110	108					5																	34922857		2203	4300	6503	SO:0001583	missense	55299				ribosome biogenesis|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|protein binding	g.chr5:34922857T>C		CCDS34143.1	5p13.2	2009-09-25	2009-09-25	2009-09-25	ENSG00000113460	ENSG00000113460			24170	protein-coding gene	gene with protein product			"brix domain containing 2"	BXDC2		12477932	Standard	NM_018321		Approved	BRIX, FLJ11100	uc003jja.3	Q8TDN6	OTTHUMG00000162021	ENST00000336767.5:c.494T>C	5.37:g.34922857T>C	ENSP00000338862:p.Leu165Pro					BRIX1_ENST00000506023.1_3'UTR	p.L165P	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN			6	857	+			165			Brix.		A8K0P5|Q3ZTT4|Q8N453|Q96DH1	Missense_Mutation	SNP	ENST00000336767.5	37	c.494T>C	CCDS34143.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.448690	0.84101	.	.	ENSG00000113460	ENST00000336767	T	0.28454	1.61	6.16	6.16	0.99307	Brix domain (3);Anticodon-binding (1);	0.060328	0.64402	D	0.000002	T	0.63058	0.2479	M	0.89601	3.045	0.80722	D	1	D;D	0.63880	0.989;0.993	D;D	0.66351	0.943;0.925	T	0.70461	-0.4865	10	0.66056	D	0.02	-21.2046	16.8061	0.85666	0.0:0.0:0.0:1.0	.	165;165	B4E0B8;Q8TDN6	.;BRX1_HUMAN	P	165	ENSP00000338862:L165P	ENSP00000338862:L165P	L	+	2	0	BRIX1	34958614	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.552000	0.82192	2.367000	0.80283	0.528000	0.53228	CTT		0.343	BRIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366826.2	NM_018321		3	160	0	0	0	1	0	3	160					C	34922857	T	C	34922857	3	2	227	1	0	0	0	0	1	0	0	0	1515	1609	56	3	516	3	BRIX1	5	34922857	Missense_Mutation	SNP	T	TCGA-EL-A3H8-01A-11D-A20C-08		34922857	145992403	6	4795											
EBF1	1879	broad.mit.edu	37	chr5	158141175	158141175	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctaccagatccgcagcccTtttgagtattacttcctgtc	6	13	1	2			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr5:158141175T>C	ENST00000313708.6	-	12	1423	c.1141A>G	c.(1141-1143)Agg>Ggg	p.R381G	EBF1_ENST00000517373.1_Missense_Mutation_p.R373G|EBF1_ENST00000380654.4_Missense_Mutation_p.R350G|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	381					multicellular organismal development (GO:0007275)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCGCAGCCCTTTTGAGTATT	0.478			T	HMGA2	lipoma																																	ENST00000313708.6				Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1141-1143)Agg>Ggg		early B-cell factor 1							220	209	213					5																	158141175		2203	4300	6503	SO:0001583	missense	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158141175T>C	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"early B-cell factor"	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1141A>G	5.37:g.158141175T>C	ENSP00000322898:p.Arg381Gly					EBF1_ENST00000517373.1_Missense_Mutation_p.R373G|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.R350G	p.R381G	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		12	1423	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	381					Q8IW11	Missense_Mutation	SNP	ENST00000313708.6	37	c.1141A>G	CCDS4343.1	.	.	.	.	.	.	.	.	.	.	T	15.51	2.855367	0.51376	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	T;T;T	0.43294	0.95;0.95;0.95	5.76	4.55	0.56014	Helix-loop-helix DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.66829	0.2829	M	0.85859	2.78	0.52501	D	0.999953	D;D;B;D	0.89917	1.0;0.997;0.347;1.0	D;D;B;D	0.97110	0.999;0.973;0.229;1.0	T	0.72623	-0.4237	10	0.66056	D	0.02	-6.607	13.3023	0.60332	0.0:0.0:0.226:0.774	.	381;368;381;350	A8K0Z7;B4E2U8;Q9UH73;Q9UH73-2	.;.;COE1_HUMAN;.	G	381;381;350;373	ENSP00000322898:R381G;ENSP00000370029:R350G;ENSP00000428020:R373G	ENSP00000322898:R381G	R	-	1	2	EBF1	158073753	1.000000	0.71417	1.000000	0.80357	0.538000	0.34931	2.184000	0.42575	2.191000	0.70037	0.533000	0.62120	AGG		0.478	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		4	256	0	0	0	1	0	4	256					C	158141175	T	C	158141175	3	2	227	1	0	0	0	0	1	0	0	0	4880	1608	56	3	654	3	EBF1	5	158141175	Missense_Mutation	SNP	T	TCGA-EL-A3H8-01A-11D-A20C-08	123218318	158141175	22774085	7	4796											
E2F3	1871	broad.mit.edu	37	chr6	20402610	20402610	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttcgccgccgccgccgcCgctgccgccgccccgggcgc	15	23	0	0			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr6:20402610C>T	ENST00000346618.3	+	1	213	c.147C>T	c.(145-147)gcC>gcT	p.A49A	E2F3_ENST00000535432.1_5'Flank	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	49	Poly-Ala.				mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			ccgccgccgccgctgccgccg	0.741																																						ENST00000346618.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(145-147)gcC>gcT		E2F transcription factor 3							14	21	18					6																	20402610		2127	4171	6298	SO:0001819	synonymous_variant	1871				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:20402610C>T	Y10479	CCDS4545.1, CCDS58999.1	6p22	2008-08-29			ENSG00000112242	ENSG00000112242			3115	protein-coding gene	gene with protein product		600427				8246996	Standard	NM_001949		Approved		uc003nda.2	O00716	OTTHUMG00000016389	ENST00000346618.3:c.147C>T	6.37:g.20402610C>T							p.A49A	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)		1	213	+	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		49			Poly-Ala.		Q15000|Q68DT0|Q9BZ44	Silent	SNP	ENST00000346618.3	37	c.147C>T	CCDS4545.1																																																																																				0.741	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043828.1			3	48	0	0	0	1	0	3	48					T	20402610	C	T	20402610	2	4	227	1	0	0	0	0	0	0	0	1	4868	639	23	1		1	E2F3	6	20402610	Silent	SNP	C	TCGA-EL-A3H8-01A-11D-A20C-08		20402610	150712457	8	4797											
TDRD6	221400	broad.mit.edu	37	chr6	46658465	46658465	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atctgtgaagaatatttattCaattagtgaagaatttctga	7	3	3	5			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr6:46658465C>A	ENST00000316081.6	+	1	2600	c.2600C>A	c.(2599-2601)tCa>tAa	p.S867*	TDRD6_ENST00000544460.1_Nonsense_Mutation_p.S867*|RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	867	Tudor 4. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AATATTTATTCAATTAGTGAA	0.368																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(2599-2601)tCa>tAa		tudor domain containing 6							76	83	80					6																	46658465		2203	4300	6503	SO:0001587	stop_gained	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46658465C>A	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.2600C>A	6.37:g.46658465C>A	ENSP00000346065:p.Ser867*					TDRD6_ENST00000316081.6_Nonsense_Mutation_p.S867*	p.S867*	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	2854	+			867			Tudor 4.		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Nonsense_Mutation	SNP	ENST00000316081.6	37	c.2600C>A	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	C	39	7.417118	0.98272	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	.	.	.	5.75	4.88	0.63580	.	0.988332	0.08273	N	0.971158	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.3511	10.204	0.43101	0.0:0.7928:0.136:0.0712	.	.	.	.	X	867	.	ENSP00000346065:S867X	S	+	2	0	TDRD6	46766424	0.083000	0.21467	0.057000	0.19452	0.995000	0.86356	1.813000	0.38962	1.429000	0.47314	0.655000	0.94253	TCA		0.368	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		4	94	1	0	0.150653	1	0.154725	4	94					A	46658465	C	A	46658465	4	1	227	1	0	0	0	0	0	1	0	0	15731	838	29	4	2602	4	TDRD6	6	46658465	Nonsense_Mutation	SNP	C	TCGA-EL-A3H8-01A-11D-A20C-08	26255855	46658465	124456602	9	4798											
C1GALT1	56913	broad.mit.edu	37	chr7	7283195	7283195	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttgcagtttcttttcactAtgttgattctacaaccatgt	5	9	4	1			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr7:7283195A>G	ENST00000223122.3	+	3	991	c.929A>G	c.(928-930)tAt>tGt	p.Y310C	C1GALT1_ENST00000436587.2_Missense_Mutation_p.Y310C			Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1	310					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|kidney development (GO:0001822)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity (GO:0016263)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TCTTTTCACTATGTTGATTCT	0.353																																						ENST00000436587.2																			0				breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7						c.(928-930)tAt>tGt		core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1							186	178	180					7																	7283195		2203	4300	6503	SO:0001583	missense	56913				angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding	g.chr7:7283195A>G	AF155582	CCDS5355.1	7p21.3	2014-06-24	2014-06-24		ENSG00000106392	ENSG00000106392	2.4.1.122	"Beta 3-glycosyltransferases"	24337	protein-coding gene	gene with protein product	"core 1 beta3-Gal-T"	610555				10580128, 11677243	Standard	NM_020156		Approved	C1GALT, T-synthase	uc003srb.3	Q9NS00	OTTHUMG00000151912	ENST00000223122.3:c.929A>G	7.37:g.7283195A>G	ENSP00000223122:p.Tyr310Cys					C1GALT1_ENST00000223122.2_Missense_Mutation_p.Y310C	p.Y310C	NM_020156.3	NP_064541.1	Q9NS00	C1GLT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	4	1152	+			310					Q96QH4|Q9BTU1	Missense_Mutation	SNP	ENST00000223122.3	37	c.929A>G	CCDS5355.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.959809	0.74016	.	.	ENSG00000106392	ENST00000436587;ENST00000223122	T;T	0.63255	-0.03;-0.03	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.78855	0.4349	M	0.80746	2.51	0.80722	D	1	D	0.62365	0.991	D	0.67725	0.953	T	0.82032	-0.0658	10	0.62326	D	0.03	-24.1183	15.1931	0.73063	1.0:0.0:0.0:0.0	.	310	Q9NS00	C1GLT_HUMAN	C	310	ENSP00000389176:Y310C;ENSP00000223122:Y310C	ENSP00000223122:Y310C	Y	+	2	0	C1GALT1	7249720	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.242000	0.95408	2.130000	0.65690	0.533000	0.62120	TAT		0.353	C1GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324379.2	NM_020156		5	160	0	0	0	1	0	5	160					G	7283195	A	G	7283195	3	3	227	1	0	0	0	0	1	0	0	0	1952	449	16	3	939	3	C1GALT1	7	7283195	Missense_Mutation	SNP	A	TCGA-EL-A3H8-01A-11D-A20C-08		7283195	151855468	10	4799											
CASD1	64921	broad.mit.edu	37	chr7	94166787	94166787	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acttgatttgttcacagactGcaatgattcttatgaatgtg	8	6	2	4			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr7:94166787G>T	ENST00000297273.4	+	9	1134	c.847G>T	c.(847-849)Gca>Tca	p.A283S		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	283						integral component of membrane (GO:0016021)				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TTCACAGACTGCAATGATTCT	0.363																																						ENST00000297273.4																			0				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(847-849)Gca>Tca		CAS1 domain containing 1							104	106	106					7																	94166787		2203	4300	6503	SO:0001583	missense	64921					integral to membrane		g.chr7:94166787G>T	AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"chromosome 7 open reading frame 12"	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.847G>T	7.37:g.94166787G>T	ENSP00000297273:p.Ala283Ser						p.A283S	NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		9	1134	+	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		283					B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Missense_Mutation	SNP	ENST00000297273.4	37	c.847G>T	CCDS5636.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270186	0.80469	.	.	ENSG00000127995	ENST00000297273	T	0.18960	2.18	5.03	5.03	0.67393	.	0.104707	0.64402	D	0.000004	T	0.39708	0.1088	L	0.40543	1.245	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.08848	-1.0702	10	0.45353	T	0.12	.	18.7155	0.91673	0.0:0.0:1.0:0.0	.	283;283	Q8WZ77;Q96PB1	.;CASD1_HUMAN	S	283	ENSP00000297273:A283S	ENSP00000297273:A283S	A	+	1	0	CASD1	94004723	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.676000	0.98643	2.513000	0.84729	0.591000	0.81541	GCA		0.363	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1	NM_022900		4	170	1	0	0.150653	1	0.154725	4	170					T	94166787	G	T	94166787	3	4	227	1	0	0	0	0	1	0	0	0	2664	1319	46	4	881	4	CASD1	7	94166787	Missense_Mutation	SNP	G	TCGA-EL-A3H8-01A-11D-A20C-08	86883592	94166787	64971876	11	4800											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		31	60	0	0	0	1	0	31	60					T	140453136	A	T	140453136	3	4	227	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3H8-01A-11D-A20C-08	46286349	140453136	18685527	12	4801											
DPYS	1807	broad.mit.edu	37	chr8	105440214	105440214	+	Frame_Shift_Del	DEL	T	T	-													cctgtgaaacccaccacgccTttttcccatattacggacat							TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr8:105440214delT	ENST00000351513.2	-	6	1218	c.1086delA	c.(1084-1086)aaafs	p.K362fs	AP003471.2_ENST00000410226.1_RNA	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	362					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCACCACGCCTTTTTCCCATA	0.478																																						ENST00000351513.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1084-1086)aafs		dihydropyrimidinase							179	176	177					8																	105440214		2203	4300	6503	SO:0001589	frameshift_variant	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105440214delT	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1086delA	8.37:g.105440214delT	ENSP00000276651:p.Lys362fs						p.K362fs	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		6	1218	-			362						Frame_Shift_Del	DEL	ENST00000351513.2	37	c.1086delA	CCDS6302.1																																																																																				0.478	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		8	461						8	461	---	---	---	---	-	105440214	T	-	105440214	7	5	227	1	0	1	0	1	0	0	0	0	4746	1606	56	0	489	0	DPYS	8	105440214	Frame_Shift_Del	DEL	T	TCGA-EL-A3H8-01A-11D-A20C-08		105440214	40923808	13	4802											
ANKRD42	338699	broad.mit.edu	37	chr11	82935987	82935987	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaagttttaaaagctttcaAtgataatggagaaaatgtac	8	4	1	2	rs376999354	byFrequency	TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr11:82935987A>G	ENST00000393392.2	+	6	755	c.593A>G	c.(592-594)aAt>aGt	p.N198S	ANKRD42_ENST00000260047.6_Missense_Mutation_p.N225S|ANKRD42_ENST00000533342.1_Missense_Mutation_p.N226S|ANKRD42_ENST00000531895.1_Missense_Mutation_p.N226S	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	198			N -> D (in dbSNP:rs17515016).		positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						AAAGCTTTCAATGATAATGGA	0.423													A|||	3	0.000599042	8e-04	0.0014	5008	,	,		12958	0		0.001	False		,,,				2504	0					ENST00000260047.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.(673-675)aAt>aGt		ankyrin repeat domain 42		A	SER/ASN	1,4405	2.1+/-5.4	0,1,2202	105	108	107		593	5.7	1.0	11		107	0,8600		0,0,4300	no	missense	ANKRD42	NM_182603.2	46	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging	198/390	82935987	1,13005	2203	4300	6503	SO:0001583	missense	338699							g.chr11:82935987A>G	AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"Ankyrin repeat domain containing"	26752	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 79"						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000393392.2:c.593A>G	11.37:g.82935987A>G	ENSP00000377051:p.Asn198Ser					ANKRD42_ENST00000533342.1_Missense_Mutation_p.N226S|ANKRD42_ENST00000393392.2_Missense_Mutation_p.N198S|ANKRD42_ENST00000531895.1_Missense_Mutation_p.N226S	p.N225S			Q8N9B4	ANR42_HUMAN			6	1469	+			198					Q49A49	Missense_Mutation	SNP	ENST00000393392.2	37	c.674A>G	CCDS8265.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.176202	0.78564	2.27E-4	0.0	ENSG00000137494	ENST00000545672;ENST00000260047;ENST00000531895;ENST00000393392;ENST00000533342	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	5.67	5.67	0.87782	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000004	T	0.38692	0.1050	L	0.61036	1.89	0.41734	D	0.989572	D;D;D;D	0.76494	0.998;0.999;0.999;0.999	D;D;D;D	0.74674	0.939;0.91;0.91;0.984	T	0.09037	-1.0693	9	.	.	.	-12.6792	14.8967	0.70649	1.0:0.0:0.0:0.0	.	226;490;317;198	E9PIL2;A1DRY3;A1XPJ0;Q8N9B4	.;.;.;ANR42_HUMAN	S	545;225;226;198;226	ENSP00000260047:N225S;ENSP00000434666:N226S;ENSP00000377051:N198S;ENSP00000435790:N226S	.	N	+	2	0	ANKRD42	82613635	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.289000	0.72696	2.154000	0.67381	0.533000	0.62120	AAT		0.423	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000392934.1	NM_182603		48	74	0	0	0	1	0	48	74					G	82935987	A	G	82935987	3	3	227	1	0	0	0	0	1	0	0	0	670	101	4	3	615	3	ANKRD42	11	82935987	Missense_Mutation	SNP	A	TCGA-EL-A3H8-01A-11D-A20C-08		82935987	52070529	14	4803											
RASGRP1	10125	broad.mit.edu	37	chr15	38791143	38791143	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttgtgacagttcatcccGcagtctgtggacaagacatc	10	10	2	2	rs374227836		TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr15:38791143G>A	ENST00000310803.5	-	15	1902	c.1725C>T	c.(1723-1725)tgC>tgT	p.C575C	RASGRP1_ENST00000559830.1_Silent_p.C540C|RASGRP1_ENST00000561180.1_Silent_p.C626C|RASGRP1_ENST00000558164.1_Intron|RASGRP1_ENST00000539159.1_Silent_p.C527C|RASGRP1_ENST00000450598.2_Silent_p.C540C	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	575					activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		AGTTCATCCCGCAGTCTGTGG	0.468																																						ENST00000310803.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(1723-1725)tgC>tgT		RAS guanyl releasing protein 1 (calcium and DAG-regulated)		G	,	0,3850		0,0,1925	260	251	254		1620,1725	-10.2	0.7	15		254	1,8293		0,1,4146	no	coding-synonymous,coding-synonymous	RASGRP1	NM_001128602.1,NM_005739.3	,	0,1,6071	AA,AG,GG		0.0121,0.0,0.0082	,	540/763,575/798	38791143	1,12143	1925	4147	6072	SO:0001819	synonymous_variant	10125				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	g.chr15:38791143G>A	AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"EF-hand domain containing"	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.1725C>T	15.37:g.38791143G>A						RASGRP1_ENST00000450598.2_Silent_p.C540C|RASGRP1_ENST00000558164.1_Intron|RASGRP1_ENST00000559830.1_Silent_p.C540C|RASGRP1_ENST00000561180.1_Silent_p.C626C|RASGRP1_ENST00000539159.1_Silent_p.C527C	p.C575C	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)	15	1902	-		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)	575					Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Silent	SNP	ENST00000310803.5	37	c.1725C>T	CCDS45222.1																																																																																				0.468	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739		5	387	0	0	0	1	0	5	387					A	38791143	G	A	38791143	2	1	227	1	0	0	0	0	0	0	0	1	13074	1079	38	1		1	RASGRP1	15	38791143	Silent	SNP	G	TCGA-EL-A3H8-01A-11D-A20C-08		38791143	63740249	15	4804											
MRPL46	26589	broad.mit.edu	37	chr15	89010506	89010506	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttgcttgagggtgcggctgCaagagccaggctgcgagagc	18	9	0	3			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr15:89010506C>A	ENST00000312475.4	-	1	144	c.103G>T	c.(103-105)Gca>Tca	p.A35S	MRPS11_ENST00000353598.6_5'Flank|MRPS11_ENST00000325844.4_5'Flank|MRPL46_ENST00000559538.1_5'Flank	NM_022163.3	NP_071446.2	Q9H2W6	RM46_HUMAN	mitochondrial ribosomal protein L46	35						mitochondrion (GO:0005739)|ribosome (GO:0005840)	hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GGTGCGGCTGCAAGAGCCAGG	0.677																																						ENST00000312475.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						c.(103-105)Gca>Tca		mitochondrial ribosomal protein L46							28	30	29					15																	89010506		2201	4299	6500	SO:0001583	missense	26589					mitochondrion|ribosome	hydrolase activity	g.chr15:89010506C>A	AF210056	CCDS10341.1	15q25.3	2012-10-08	2001-12-10	2001-12-14	ENSG00000259494	ENSG00000259494		"Mitochondrial ribosomal proteins / large subunits"	1192	protein-coding gene	gene with protein product		611851	"chromosome 15 open reading frame 4"	C15orf4		11761714, 11551941	Standard	NM_022163		Approved	LIECG2, P2ECSL	uc002bmj.2	Q9H2W6	OTTHUMG00000148683	ENST00000312475.4:c.103G>T	15.37:g.89010506C>A	ENSP00000312311:p.Ala35Ser						p.A35S	NM_022163.3	NP_071446.2	Q9H2W6	RM46_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.188)		1	144	-	Lung NSC(78;0.203)		35					B2RD75|Q9HBU8	Missense_Mutation	SNP	ENST00000312475.4	37	c.103G>T	CCDS10341.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.264730	0.59431	.	.	ENSG00000173867	ENST00000312475	T	0.42513	0.97	5.07	0.847	0.18961	.	0.408254	0.27147	N	0.020710	T	0.14485	0.0350	N	0.08118	0	0.09310	N	1	B	0.26935	0.164	B	0.22601	0.04	T	0.16100	-1.0414	10	0.08837	T	0.75	.	2.5944	0.04850	0.1507:0.5384:0.146:0.165	.	35	Q9H2W6	RM46_HUMAN	S	35	ENSP00000312311:A35S	ENSP00000312311:A35S	A	-	1	0	MRPL46	86811510	0.000000	0.05858	0.014000	0.15608	0.029000	0.11900	0.651000	0.24873	0.300000	0.22699	0.655000	0.94253	GCA		0.677	MRPL46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309073.1	NM_022163		3	15	1	0	1	1	1	3	15					A	89010506	C	A	89010506	3	1	227	1	0	0	0	0	1	0	0	0	9810	710	25	4	752	4	MRPL46	15	89010506	Missense_Mutation	SNP	C	TCGA-EL-A3H8-01A-11D-A20C-08	50219363	89010506	13520886	16	4805											
DNAH2	146754	broad.mit.edu	37	chr17	7736520	7736520	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacttccggcctgcagagagCcgcaagaagagcgccaaggg	14	13	0	3			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr17:7736520C>A	ENST00000572933.1	+	85	14570	c.13110C>A	c.(13108-13110)agC>agA	p.S4370R	DNAH2_ENST00000389173.2_Missense_Mutation_p.S4370R			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4370					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(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTGCAGAGAGCCGCAAGAAGA	0.622																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(13108-13110)agC>agA		dynein, axonemal, heavy chain 2							35	36	35					17																	7736520		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7736520C>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.13110C>A	17.37:g.7736520C>A	ENSP00000458355:p.Ser4370Arg					DNAH2_ENST00000389173.2_Missense_Mutation_p.S4370R	p.S4370R			Q9P225	DYH2_HUMAN			85	14570	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	4370					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.13110C>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	8.131	0.783103	0.16189	.	.	ENSG00000183914	ENST00000389173	T	0.08282	3.11	3.9	-0.377	0.12501	Dynein heavy chain (1);	0.191020	0.45361	D	0.000378	T	0.04724	0.0128	N	0.21448	0.665	0.80722	D	1	B	0.09022	0.002	B	0.17098	0.017	T	0.43589	-0.9382	10	0.15066	T	0.55	.	8.7406	0.34556	0.0:0.628:0.0:0.372	.	4370	Q9P225	DYH2_HUMAN	R	4370	ENSP00000373825:S4370R	ENSP00000373825:S4370R	S	+	3	2	DNAH2	7677245	0.998000	0.40836	0.999000	0.59377	0.995000	0.86356	0.558000	0.23469	0.100000	0.17581	0.484000	0.47621	AGC		0.622	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		6	49	1	0	2.0095e-06	1	2.31397e-06	6	49					A	7736520	C	A	7736520	3	1	227	1	0	0	0	0	1	0	0	0	4602	738	26	4	13444	4	DNAH2	17	7736520	Missense_Mutation	SNP	C	TCGA-EL-A3H8-01A-11D-A20C-08		7736520	73458690	17	4806											
MTMR4	9110	broad.mit.edu	37	chr17	56572506	56572506	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcactggagaagggcaGttcagtggaacgggctttgt	18	6	1	1			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr17:56572506G>A	ENST00000323456.5	-	16	3121	c.2997C>T	c.(2995-2997)aaC>aaT	p.N999N	MTMR4_ENST00000579925.1_Silent_p.N942N	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	999					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAGAAGGGCAGTTCAGTGGAA	0.507																																						ENST00000323456.5																			0				breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36						c.(2995-2997)aaC>aaT		myotubularin related protein 4							207	191	196					17																	56572506		2203	4300	6503	SO:0001819	synonymous_variant	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56572506G>A	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.2997C>T	17.37:g.56572506G>A						MTMR4_ENST00000579925.1_Silent_p.N942N	p.N999N	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN			16	3121	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		999					D3DTZ6|Q8IV27|Q9Y4D5	Silent	SNP	ENST00000323456.5	37	c.2997C>T	CCDS11608.1																																																																																				0.507	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		5	259	0	0	0	1	0	5	259					A	56572506	G	A	56572506	2	1	227	1	0	0	0	0	0	0	0	1	9946	1020	36	2		2	MTMR4	17	56572506	Silent	SNP	G	TCGA-EL-A3H8-01A-11D-A20C-08	48835986	56572506	24622704	18	4807											
CCDC45	90799	broad.mit.edu	37	chr17	62512852	62512852	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgaacaggtgaaactgaaCagtattttaaagaatctgat	8	5	2	5			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr17:62512852C>T	ENST00000556440.2	+	5	889	c.379C>T	c.(379-381)Cag>Tag	p.Q127*	CEP95_ENST00000553412.1_Intron	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	127						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						TGAAACTGAACAGTATTTTAA	0.368																																						ENST00000556440.2																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						c.(379-381)Cag>Tag		centrosomal protein 95kDa							109	99	102					17																	62512852		1817	4070	5887	SO:0001587	stop_gained	90799					centrosome|spindle pole	protein binding	g.chr17:62512852C>T	AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"coiled-coil domain containing 45"	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.379C>T	17.37:g.62512852C>T	ENSP00000450461:p.Gln127*					CEP95_ENST00000553412.1_Intron	p.Q127*	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN			5	889	+			127					B4DMD2|Q96M81	Nonsense_Mutation	SNP	ENST00000556440.2	37	c.379C>T	CCDS45763.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024294	0.75390	.	.	ENSG00000258890	ENST00000556440	.	.	.	5.1	1.91	0.25777	.	0.786112	0.12366	N	0.475250	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-0.8718	8.6425	0.33985	0.1637:0.52:0.3163:0.0	.	.	.	.	X	127	.	ENSP00000437744:Q127X	Q	+	1	0	CEP95	59943314	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	0.297000	0.19101	0.380000	0.24823	-1.067000	0.02272	CAG		0.368	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2	NM_138363		13	29	0	0	0	1	0	13	29					T	62512852	C	T	62512852	4	4	227	1	0	0	0	0	0	1	0	0	2816	479	17	2	397	2	CCDC45	17	62512852	Nonsense_Mutation	SNP	C	TCGA-EL-A3H8-01A-11D-A20C-08	5940346	62512852	18682358	19	4808											
ZNF446	55663	broad.mit.edu	37	chr19	58992084	58992084	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcaagggccaccggccggaGgttccatgagcagccagaca	14	14	0	2			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr19:58992084G>A	ENST00000594369.1	+	7	1725	c.1344G>A	c.(1342-1344)gaG>gaA	p.E448E	ZNF446_ENST00000335841.4_3'UTR|ZNF446_ENST00000596341.1_Silent_p.E397E	NM_017908.2	NP_060378.1	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	448					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		ACCGGCCGGAGGTTCCATGAG	0.657																																						ENST00000596341.1																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8						c.(1189-1191)gaG>gaA		zinc finger protein 446							28	31	30					19																	58992084		2184	4250	6434	SO:0001819	synonymous_variant	55663				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58992084G>A		CCDS12982.1	19q13.43	2013-01-09				ENSG00000083838		"Zinc fingers, C2H2-type", "-", "-", "-"	21036	protein-coding gene	gene with protein product							Standard	NM_017908		Approved	ZKSCAN20, FLJ20626, ZSCAN52	uc002qsz.3	Q9NWS9		ENST00000594369.1:c.1344G>A	19.37:g.58992084G>A						ZNF446_ENST00000594369.1_Silent_p.E448E|ZNF446_ENST00000335841.4_3'UTR	p.E397E			Q9NWS9	ZN446_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	7	3411	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	448						Silent	SNP	ENST00000594369.1	37	c.1191G>A	CCDS12982.1																																																																																				0.657	ZNF446-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467052.1	NM_017908		4	99	0	0	0	1	0	4	99					A	58992084	G	A	58992084	2	1	227	1	0	0	0	0	0	0	0	1	17916	991	35	2		2	ZNF446	19	58992084	Silent	SNP	G	TCGA-EL-A3H8-01A-11D-A20C-08		58992084	136899	20	4809											
PLP1	5354	broad.mit.edu	37	chrX	103042754	103042754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcacctatgccctgaccGttgtgtggctcctggtgttt	11	12	1	1	rs11543023		TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chrX:103042754G>A	ENST00000303958.2	+	4	627	c.481G>A	c.(481-483)Gtt>Att	p.V161I	PLP1_ENST00000418604.1_Missense_Mutation_p.V161I|PLP1_ENST00000361621.2_Missense_Mutation_p.V126I|PLP1_ENST00000466486.1_3'UTR	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1	161			Missing (in HLD1).		astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						TGCCCTGACCGTTGTGTGGCT	0.507																																						ENST00000418604.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						c.(481-483)Gtt>Att		proteolipid protein 1							265	180	209					X																	103042754		2203	4300	6503	SO:0001583	missense	5354				cell death|synaptic transmission	integral to membrane		g.chrX:103042754G>A	M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"Pelizaeus-Merzbacher disease"	300401	"spastic paraplegia 2, uncomplicated"	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.481G>A	X.37:g.103042754G>A	ENSP00000305152:p.Val161Ile					PLP1_ENST00000361621.2_Missense_Mutation_p.V126I|PLP1_ENST00000303958.2_Missense_Mutation_p.V161I|PLP1_ENST00000466486.1_3'UTR	p.V161I	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN			5	761	+			161		Missing (in HLD1).			P04400|P06905|Q502Y1|Q6FHZ6	Missense_Mutation	SNP	ENST00000303958.2	37	c.481G>A	CCDS14513.1	.	.	.	.	.	.	.	.	.	.	G	4.630	0.117101	0.08881	.	.	ENSG00000123560	ENST00000418604;ENST00000303958;ENST00000361621;ENST00000428755	D;D;D	0.99252	-5.63;-5.63;-5.63	5.73	-2.0	0.07433	.	0.630262	0.17318	N	0.178635	D	0.95017	0.8387	N	0.12502	0.225	0.25863	N	0.983802	B;B;B;B	0.18461	0.004;0.001;0.001;0.028	B;B;B;B	0.15052	0.001;0.002;0.002;0.012	D	0.89255	0.3593	10	0.07644	T	0.81	-6.9567	11.153	0.48471	0.5962:0.0:0.4038:0.0	rs11543023;rs11543023	106;161;161;126	B4DI30;A8K9L3;P60201;P60201-2	.;.;MYPR_HUMAN;.	I	161;161;126;139	ENSP00000405750:V161I;ENSP00000305152:V161I;ENSP00000354860:V126I	ENSP00000305152:V161I	V	+	1	0	PLP1	102929410	0.808000	0.29022	0.959000	0.39883	0.996000	0.88848	0.400000	0.20932	-0.297000	0.08934	0.600000	0.82982	GTT		0.507	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057743.2			5	230	0	0	0	1	0	5	230					A	103042754	G	A	103042754	3	1	227	1	0	0	0	0	1	0	0	0	12104	1145	40	1	495	1	PLP1	23	103042754	Missense_Mutation	SNP	G	TCGA-EL-A3H8-01A-11D-A20C-08		103042754	52227806	21	4810											
SPANXN2	494119	broad.mit.edu	37	chrX	142803692	142803692	+	Frame_Shift_Del	DEL	T	T	-													ctaacaatcttacctcatcaTtttttttgttattggattca							TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chrX:142803692delT	ENST00000370498.1	-	1	824	c.71delA	c.(70-72)aatfs	p.N24fs		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	24										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TACCTCATCATTTTTTTTGTT	0.443																																						ENST00000370498.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(70-72)atfs		SPANX family, member N2				0,17,3704		0,0,0,1,12,3,1579,534	214	197	202			-0.2	0.0	X		204	1,105,6378		0,0,1,7,61,30,2288,1740	no	codingComplex	SPANXN2	NM_001009615.1		0,0,1,8,73,33,3867,2274	A1A1,A1A2,A1R,A2A2,A2R,A2,RR,R		1.6348,0.4569,1.2053			142803692	1,122,10082	2203	4300	6503	SO:0001589	frameshift_variant	494119							g.chrX:142803692delT		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 7"	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.71delA	X.37:g.142803692delT	ENSP00000359529:p.Asn24fs						p.N24fs	NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN			1	824	-	Acute lymphoblastic leukemia(192;6.56e-05)		24					Q0ZNM2	Frame_Shift_Del	DEL	ENST00000370498.1	37	c.71delA	CCDS35419.1																																																																																				0.443	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		7	246						7	246	---	---	---	---	-	142803692	T	-	142803692	7	5	227	1	0	1	0	1	0	0	0	0	14991	1493	52	0	479	0	SPANXN2	23	142803692	Frame_Shift_Del	DEL	T	TCGA-EL-A3H8-01A-11D-A20C-08	39760938	142803692	12466868	22	4811											
FUNDC2	65991	broad.mit.edu	37	chrX	154282927	154282927	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggggatttttcggaggctttCtgcttggcatggcatcctaa	13	8	1	0			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chrX:154282927C>T	ENST00000369498.3	+	5	804	c.550C>T	c.(550-552)Ctg>Ttg	p.L184L	FUNDC2_ENST00000484175.1_3'UTR	NM_023934.3	NP_076423.2	Q9BWH2	FUND2_HUMAN	FUN14 domain containing 2	184						mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.L184V(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGGAGGCTTTCTGCTTGGCAT	0.448																																						ENST00000369498.3																			1	Substitution - Missense(1)	p.L184V(1)	breast(1)	breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13						c.(550-552)Ctg>Ttg		FUN14 domain containing 2							149	137	141					X																	154282927		2203	4300	6503	SO:0001819	synonymous_variant	65991					mitochondrion		g.chrX:154282927C>T	AF267862	CCDS14763.1	Xq28	2010-03-12			ENSG00000165775	ENSG00000165775			24925	protein-coding gene	gene with protein product						12477932	Standard	NM_023934		Approved	HCBP6, DC44	uc004fmw.3	Q9BWH2	OTTHUMG00000013504	ENST00000369498.3:c.550C>T	X.37:g.154282927C>T						FUNDC2_ENST00000484175.1_3'UTR	p.L184L	NM_023934.3	NP_076423.2	Q9BWH2	FUND2_HUMAN			5	804	+	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		184					B2R7W5|D3DWY5|Q8NHX8|Q9H2I6	Silent	SNP	ENST00000369498.3	37	c.550C>T	CCDS14763.1																																																																																				0.448	FUNDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037641.3	NM_023934		11	253	0	0	0	1	0	11	253					T	154282927	C	T	154282927	2	4	227	1	0	0	0	0	0	0	0	1	6098	912	32	2		2	FUNDC2	23	154282927	Silent	SNP	C	TCGA-EL-A3H8-01A-11D-A20C-08	11479235	154282927	987633	23	4812											
VIL1	7429	broad.mit.edu	37	chr2	219299353	219299353	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggcctttgaggtcccagcGcgggccaatttcctcaattc	10	13	1	1			TCGA-EL-A3MW-01A-11D-A20C-08	TCGA-EL-A3MW-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f349b8b-7642-4276-ad9a-5a76030309d8	ed837939-2741-45c0-90a3-8ec7995d5eb5	g.chr2:219299353G>A	ENST00000248444.5	+	14	1693	c.1605G>A	c.(1603-1605)gcG>gcA	p.A535A	VIL1_ENST00000392114.2_Silent_p.A224A	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	535	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGTCCCAGCGCGGGCCAATT	0.567																																						ENST00000248444.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1603-1605)gcG>gcA		villin 1							104	105	105					2																	219299353		2203	4300	6503	SO:0001819	synonymous_variant	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219299353G>A	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.1605G>A	2.37:g.219299353G>A						VIL1_ENST00000392114.2_Silent_p.A224A	p.A535A	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	14	1693	+		Renal(207;0.0474)	535			Core.		B2R9A7|Q53S11|Q96AC8	Silent	SNP	ENST00000248444.5	37	c.1605G>A	CCDS2417.1																																																																																				0.567	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		4	118	0	0	0	1	0	4	118					A	219299353	G	A	219299353	2	1	228	1	0	0	0	0	0	0	0	1	17161	1074	38	1		1	VIL1	2	219299353	Silent	SNP	G	TCGA-EL-A3MW-01A-11D-A20C-08		219299353	23900020	1	4813											
PGM2	55276	broad.mit.edu	37	chr4	37836265	37836265	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagatacctggaaaaacAattcagtgacttaaagcaga	8	7	1	3			TCGA-EL-A3MW-01A-11D-A20C-08	TCGA-EL-A3MW-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f349b8b-7642-4276-ad9a-5a76030309d8	ed837939-2741-45c0-90a3-8ec7995d5eb5	g.chr4:37836265A>G	ENST00000381967.4	+	3	375	c.275A>G	c.(274-276)cAa>cGa	p.Q92R	PGM2_ENST00000537241.1_Intron|PGM2_ENST00000544359.1_5'UTR	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	92					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						CTGGAAAAACAATTCAGTGAC	0.343																																						ENST00000381967.4																			0				breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						c.(274-276)cAa>cGa		phosphoglucomutase 2							95	106	102					4																	37836265		2203	4300	6503	SO:0001583	missense	55276				glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity	g.chr4:37836265A>G	BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"phosphopentomutase"	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.275A>G	4.37:g.37836265A>G	ENSP00000371393:p.Gln92Arg					PGM2_ENST00000544359.1_5'UTR|PGM2_ENST00000537241.1_Intron	p.Q92R	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN			3	375	+			92					B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Missense_Mutation	SNP	ENST00000381967.4	37	c.275A>G	CCDS3443.1	.	.	.	.	.	.	.	.	.	.	A	11.84	1.758996	0.31137	.	.	ENSG00000169299	ENST00000381967	T	0.50548	0.74	6.05	4.83	0.62350	Alpha-D-phosphohexomutase, alpha/beta/alpha domain I (1);Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);	0.511760	0.22952	N	0.053656	T	0.34513	0.0900	L	0.35542	1.07	0.21290	N	0.999732	B	0.11235	0.004	B	0.16722	0.016	T	0.11891	-1.0569	10	0.22706	T	0.39	-4.1688	9.7856	0.40675	0.8028:0.1291:0.068:0.0	.	92	Q96G03	PGM2_HUMAN	R	92	ENSP00000371393:Q92R	ENSP00000371393:Q92R	Q	+	2	0	PGM2	37512660	0.999000	0.42202	0.679000	0.29978	0.744000	0.42396	3.346000	0.52190	2.320000	0.78422	0.528000	0.53228	CAA		0.343	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290		88	112	0	0	0	1	0	88	112					G	37836265	A	G	37836265	3	3	228	1	0	0	0	0	1	0	0	0	11798	130	5	3	285	3	PGM2	4	37836265	Missense_Mutation	SNP	A	TCGA-EL-A3MW-01A-11D-A20C-08		37836265	153318011	2	4814											
NOP16	51491	broad.mit.edu	37	chr5	175813862	175813862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcagcacatagggcttccGtacaagctctttaggcctct	8	12	3	0			TCGA-EL-A3MW-01A-11D-A20C-08	TCGA-EL-A3MW-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f349b8b-7642-4276-ad9a-5a76030309d8	ed837939-2741-45c0-90a3-8ec7995d5eb5	g.chr5:175813862G>A	ENST00000389158.5	-	3	700	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W	NOP16_ENST00000510123.1_Missense_Mutation_p.R89W|NOP16_ENST00000509257.1_Missense_Mutation_p.R89W|NOP16_ENST00000507413.1_Intron|HIGD2A_ENST00000274787.2_5'Flank			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein	89						intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						TAGGGCTTCCGTACAAGCTCT	0.512																																						ENST00000389158.5																			0				central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						c.(265-267)Cgg>Tgg		NOP16 nucleolar protein							135	138	137					5																	175813862		1995	4163	6158	SO:0001583	missense	51491					nucleolus		g.chr5:175813862G>A		CCDS43403.1, CCDS58991.1	5q35.2	2012-12-10	2012-12-10		ENSG00000048162	ENSG00000048162			26934	protein-coding gene	gene with protein product	"hypothetical protein HSPC111", "HBV pre-S2 trans-regulated protein 3"	612861	"nucleolar protein 16 homolog (yeast)", "NOP16 nucleolar protein homolog (yeast)"			10810093, 11042152	Standard	NM_001291308		Approved	HSPC111, HSPC185, LOC51491	uc003mee.4	Q9Y3C1	OTTHUMG00000163186	ENST00000389158.5:c.265C>T	5.37:g.175813862G>A	ENSP00000373810:p.Arg89Trp					NOP16_ENST00000510123.1_Missense_Mutation_p.R89W|NOP16_ENST00000509257.1_Missense_Mutation_p.R89W|NOP16_ENST00000507413.1_Intron	p.R89W			Q9Y3C1	NOP16_HUMAN			3	700	-			89					B4DV13|D6RGD3|Q05D05|Q6IAI6|Q8IXL5	Missense_Mutation	SNP	ENST00000389158.5	37	c.265C>T	CCDS43403.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123234	0.56613	.	.	ENSG00000048162	ENST00000389158;ENST00000510123;ENST00000341213;ENST00000451293;ENST00000509257	.	.	.	5.88	4.96	0.65561	.	0.493832	0.22293	N	0.061978	T	0.64702	0.2622	L	0.29908	0.895	0.40069	D	0.975998	D;B;B;B	0.89917	1.0;0.173;0.173;0.297	D;B;B;B	0.78314	0.991;0.019;0.019;0.059	T	0.67432	-0.5672	9	0.87932	D	0	.	13.2878	0.60253	0.0:0.0:0.8422:0.1578	.	89;89;89;89	B4E098;Q9Y3C1;Q6PIM0;D6RGD3	.;NOP16_HUMAN;.;.	W	89;89;64;89;89	.	ENSP00000340662:R64W	R	-	1	2	NOP16	175746468	0.999000	0.42202	0.985000	0.45067	0.988000	0.76386	2.369000	0.44231	2.789000	0.95967	0.655000	0.94253	CGG		0.512	NOP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371963.1	NM_016391		4	149	0	0	0	1	0	4	149					A	175813862	G	A	175813862	3	1	228	1	0	0	0	0	1	0	0	0	10537	1144	40	1	282	1	NOP16	5	175813862	Missense_Mutation	SNP	G	TCGA-EL-A3MW-01A-11D-A20C-08		175813862	5101398	3	4815											
TMEM63B	55362	broad.mit.edu	37	chr6	44119647	44119647	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcattgcctcagcctttatcGgcaacgccatggacctgctg	9	14	2	0			TCGA-EL-A3MW-01A-11D-A20C-08	TCGA-EL-A3MW-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f349b8b-7642-4276-ad9a-5a76030309d8	ed837939-2741-45c0-90a3-8ec7995d5eb5	g.chr6:44119647G>T	ENST00000259746.9	+	19	1921	c.1738G>T	c.(1738-1740)Ggc>Tgc	p.G580C	TMEM63B_ENST00000323267.6_Missense_Mutation_p.G580C			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	580					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			AGCCTTTATCGGCAACGCCAT	0.642											OREG0017465	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000259746.9																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35						c.(1738-1740)Ggc>Tgc		transmembrane protein 63B							111	80	91					6																	44119647		2203	4300	6503	SO:0001583	missense	55362					integral to membrane	nucleotide binding|protein binding	g.chr6:44119647G>T	BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 110"	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.1738G>T	6.37:g.44119647G>T	ENSP00000259746:p.Gly580Cys		OREG0017465	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	921	TMEM63B_ENST00000323267.6_Missense_Mutation_p.G580C	p.G580C			Q5T3F8	TM63B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)		19	1921	+	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		580					B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Missense_Mutation	SNP	ENST00000259746.9	37	c.1738G>T	CCDS34461.1	.	.	.	.	.	.	.	.	.	.	G	33	5.198558	0.94997	.	.	ENSG00000137216	ENST00000259746;ENST00000323267	T;T	0.35605	1.3;1.3	5.01	5.01	0.66863	Domain of unknown function DUF221 (1);	0.000000	0.85682	D	0.000000	T	0.63094	0.2482	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71411	-0.4601	10	0.87932	D	0	.	17.4887	0.87696	0.0:0.0:1.0:0.0	.	580	Q5T3F8	TM63B_HUMAN	C	580	ENSP00000259746:G580C;ENSP00000327154:G580C	ENSP00000259746:G580C	G	+	1	0	TMEM63B	44227625	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.578000	0.98200	2.618000	0.88619	0.460000	0.39030	GGC		0.642	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2	XM_166410		55	58	1	0	6.30371e-39	1	6.61889e-39	55	58					T	44119647	G	T	44119647	3	4	228	1	0	0	0	0	1	0	0	0	16188	1116	39	4	1808	4	TMEM63B	6	44119647	Missense_Mutation	SNP	G	TCGA-EL-A3MW-01A-11D-A20C-08		44119647	126995420	4	4816											
ZCWPW1	55063	broad.mit.edu	37	chr7	100014704	100014704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttacccattagcattatcaGtatcagtagcagaagcagta	7	9	2	1			TCGA-EL-A3MW-01A-11D-A20C-08	TCGA-EL-A3MW-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f349b8b-7642-4276-ad9a-5a76030309d8	ed837939-2741-45c0-90a3-8ec7995d5eb5	g.chr7:100014704G>A	ENST00000398027.2	-	6	711	c.464C>T	c.(463-465)aCt>aTt	p.T155I	ZCWPW1_ENST00000324725.6_Missense_Mutation_p.T34I|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.T34I|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.T155I	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	155							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCATTATCAGTATCAGTAGC	0.433																																						ENST00000398027.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(463-465)aCt>aTt		zinc finger, CW type with PWWP domain 1							160	149	153					7																	100014704		1925	4135	6060	SO:0001583	missense	55063						zinc ion binding	g.chr7:100014704G>A	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"zinc finger, CW-type with PWWP domain 1"			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.464C>T	7.37:g.100014704G>A	ENSP00000381109:p.Thr155Ile					ZCWPW1_ENST00000324725.6_Missense_Mutation_p.T34I|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.T155I|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.T34I	p.T155I	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN			6	711	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		155					A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	ENST00000398027.2	37	c.464C>T	CCDS43623.1	.	.	.	.	.	.	.	.	.	.	G	2.874	-0.233407	0.05983	.	.	ENSG00000078487	ENST00000398027;ENST00000490721;ENST00000360951;ENST00000324725;ENST00000379559	T;T;T;T	0.45276	0.92;0.93;0.9;0.93	3.78	1.32	0.21799	.	0.437334	0.19518	N	0.112358	T	0.21674	0.0522	N	0.22421	0.69	0.09310	N	1	P;P;P;P;P	0.44521	0.837;0.627;0.627;0.627;0.744	B;B;B;B;B	0.38327	0.193;0.139;0.139;0.139;0.271	T	0.09185	-1.0686	9	.	.	.	-4.2503	4.2096	0.10505	0.1967:0.0:0.2274:0.5759	.	155;115;156;155;34	B4DUQ2;B4DXS7;C9J435;Q9H0M4;Q9H0M4-4	.;.;.;ZCPW1_HUMAN;.	I	155;34;155;34;156	ENSP00000381109:T155I;ENSP00000419187:T34I;ENSP00000354210:T155I;ENSP00000314880:T34I	.	T	-	2	0	ZCWPW1	99852640	0.803000	0.28956	0.026000	0.17262	0.070000	0.16714	0.593000	0.23999	0.274000	0.22072	-0.425000	0.05940	ACT		0.433	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		12	266	0	0	0	1	0	12	266					A	100014704	G	A	100014704	3	1	228	1	0	0	0	0	1	0	0	0	17594	1029	36	2	1534	2	ZCWPW1	7	100014704	Missense_Mutation	SNP	G	TCGA-EL-A3MW-01A-11D-A20C-08		100014704	59123959	5	4817											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3MW-01A-11D-A20C-08	TCGA-EL-A3MW-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f349b8b-7642-4276-ad9a-5a76030309d8	ed837939-2741-45c0-90a3-8ec7995d5eb5	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		30	44	0	0	0	1	0	30	44					T	140453136	A	T	140453136	3	4	228	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3MW-01A-11D-A20C-08	40438432	140453136	18685527	6	4818											
GIT2	9815	broad.mit.edu	37	chr12	110433982	110433982	+	Frame_Shift_Del	DEL	C	C	-													ggccggtgcgactcacccggCccgctgcagtcagcgcacac							TCGA-EL-A3MW-01A-11D-A20C-08	TCGA-EL-A3MW-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f349b8b-7642-4276-ad9a-5a76030309d8	ed837939-2741-45c0-90a3-8ec7995d5eb5	g.chr12:110433982delC	ENST00000355312.3	-	1	47	c.48delG	c.(46-48)gggfs	p.G16fs	GIT2_ENST00000338373.5_Frame_Shift_Del_p.G16fs|GIT2_ENST00000457474.2_Frame_Shift_Del_p.G16fs|GIT2_ENST00000553118.1_Frame_Shift_Del_p.G16fs|GIT2_ENST00000551209.1_Frame_Shift_Del_p.G16fs|GIT2_ENST00000354574.4_Frame_Shift_Del_p.G16fs|GIT2_ENST00000547815.1_Frame_Shift_Del_p.G16fs|GIT2_ENST00000343646.5_Frame_Shift_Del_p.G16fs|GIT2_ENST00000360185.4_Frame_Shift_Del_p.G16fs|GIT2_ENST00000356259.4_Frame_Shift_Del_p.G16fs|GIT2_ENST00000320063.9_Frame_Shift_Del_p.G16fs|GIT2_ENST00000361006.5_Frame_Shift_Del_p.G16fs	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	16	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						ACTCACCCGGCCCGCTGCAGT	0.731																																						ENST00000360185.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						c.(46-48)ggfs		G protein-coupled receptor kinase interacting ArfGAP 2							5	6	6					12																	110433982		2004	3927	5931	SO:0001589	frameshift_variant	9815				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr12:110433982delC	AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	4273	protein-coding gene	gene with protein product		608564	"G protein-coupled receptor kinase interactor 2"			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.48delG	12.37:g.110433982delC	ENSP00000347464:p.Gly16fs					GIT2_ENST00000320063.9_Frame_Shift_Del_p.G16fs|GIT2_ENST00000338373.5_Frame_Shift_Del_p.G16fs|GIT2_ENST00000553118.1_Frame_Shift_Del_p.G16fs|GIT2_ENST00000547815.1_Frame_Shift_Del_p.G16fs|GIT2_ENST00000551209.1_Frame_Shift_Del_p.G16fs|GIT2_ENST00000457474.2_Frame_Shift_Del_p.G16fs|GIT2_ENST00000356259.4_Frame_Shift_Del_p.G16fs|GIT2_ENST00000361006.5_Frame_Shift_Del_p.G16fs|GIT2_ENST00000354574.4_Frame_Shift_Del_p.G16fs|GIT2_ENST00000343646.5_Frame_Shift_Del_p.G16fs|GIT2_ENST00000355312.3_Frame_Shift_Del_p.G16fs	p.G16fs			Q14161	GIT2_HUMAN			1	212	-			16			Arf-GAP.		Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Frame_Shift_Del	DEL	ENST00000355312.3	37	c.48delG	CCDS9138.1																																																																																				0.731	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1	NM_057169		2	4						2	4	---	---	---	---	-	110433982	C	-	110433982	7	5	228	1	0	1	0	1	0	0	0	0	6397	726	26	0	2349	0	GIT2	12	110433982	Frame_Shift_Del	DEL	C	TCGA-EL-A3MW-01A-11D-A20C-08		110433982	23417913	7	4819											
KSR2	283455	broad.mit.edu	37	chr12	117962864	117962864	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caaagcggccctttccaatgAgctcgccgatctccagctgc	9	16	1	1			TCGA-EL-A3MW-01A-11D-A20C-08	TCGA-EL-A3MW-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f349b8b-7642-4276-ad9a-5a76030309d8	ed837939-2741-45c0-90a3-8ec7995d5eb5	g.chr12:117962864A>T	ENST00000339824.5	-	14	2739	c.2012T>A	c.(2011-2013)cTc>cAc	p.L671H	KSR2_ENST00000302438.5_Missense_Mutation_p.L368H|KSR2_ENST00000425217.1_Missense_Mutation_p.L642H|KSR2_ENST00000545002.1_5'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	671	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTTTCCAATGAGCTCGCCGAT	0.622																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1924-1926)cTc>cAc		kinase suppressor of ras 2							60	65	64					12																	117962864		2091	4215	6306	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117962864A>T	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.2012T>A	12.37:g.117962864A>T	ENSP00000339952:p.Leu671His					KSR2_ENST00000302438.5_Missense_Mutation_p.L368H|KSR2_ENST00000339824.5_Missense_Mutation_p.L671H|KSR2_ENST00000545002.1_5'UTR	p.L642H	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			14	1979	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		671					A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.1925T>A		.	.	.	.	.	.	.	.	.	.	A	17.55	3.417667	0.62622	.	.	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	D;D;D	0.90069	-2.61;-2.61;-2.61	4.98	3.83	0.44106	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.059483	0.64402	D	0.000002	D	0.92071	0.7487	M	0.72624	2.21	0.43930	D	0.996583	D	0.63046	0.992	D	0.65323	0.934	D	0.90086	0.4174	10	0.34782	T	0.22	.	10.3954	0.44198	0.9234:0.0:0.0766:0.0	.	671	Q6VAB6	KSR2_HUMAN	H	642;671;368;343	ENSP00000389715:L642H;ENSP00000339952:L671H;ENSP00000305466:L368H	ENSP00000305466:L368H	L	-	2	0	KSR2	116447247	1.000000	0.71417	1.000000	0.80357	0.374000	0.29953	9.139000	0.94554	0.929000	0.37192	0.528000	0.53228	CTC		0.622	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		5	82	0	0	0	1	0	5	82					T	117962864	A	T	117962864	3	4	228	1	0	0	0	0	1	0	0	0	8582	304	11	5	868	5	KSR2	12	117962864	Missense_Mutation	SNP	A	TCGA-EL-A3MW-01A-11D-A20C-08	7528882	117962864	15889031	8	4820											
EEF2K	29904	broad.mit.edu	37	chr16	22268620	22268620	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttccggccatcagctgatagTggtggacatccagggagttg	14	9	1	1			TCGA-EL-A3MW-01A-11D-A20C-08	TCGA-EL-A3MW-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f349b8b-7642-4276-ad9a-5a76030309d8	ed837939-2741-45c0-90a3-8ec7995d5eb5	g.chr16:22268620T>A	ENST00000263026.5	+	8	1289	c.815T>A	c.(814-816)gTg>gAg	p.V272E		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	272	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		CAGCTGATAGTGGTGGACATC	0.557																																					NSCLC(195;1411 2157 20319 27471 51856)	ENST00000263026.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29						c.(814-816)gTg>gAg		eukaryotic elongation factor-2 kinase							141	118	126					16																	22268620		2197	4300	6497	SO:0001583	missense	29904				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	g.chr16:22268620T>A	U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.815T>A	16.37:g.22268620T>A	ENSP00000263026:p.Val272Glu						p.V272E	NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN		GBM - Glioblastoma multiforme(48;0.0223)	8	1289	+			272			Alpha-type protein kinase.		Q8N588	Missense_Mutation	SNP	ENST00000263026.5	37	c.815T>A	CCDS10604.1	.	.	.	.	.	.	.	.	.	.	T	34	5.309043	0.95629	.	.	ENSG00000103319	ENST00000263026	T	0.25749	1.78	5.87	5.87	0.94306	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.118831	0.56097	D	0.000032	T	0.64494	0.2603	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.76391	-0.2976	10	0.87932	D	0	-16.495	16.2813	0.82687	0.0:0.0:0.0:1.0	.	272	O00418	EF2K_HUMAN	E	272	ENSP00000263026:V272E	ENSP00000263026:V272E	V	+	2	0	EEF2K	22176121	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.493000	0.81493	2.244000	0.73946	0.533000	0.62120	GTG		0.557	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2	NM_013302		6	157	0	0	0	1	0	6	157					A	22268620	T	A	22268620	3	1	228	1	0	0	0	0	1	0	0	0	4930	1696	59	5	841	5	EEF2K	16	22268620	Missense_Mutation	SNP	T	TCGA-EL-A3MW-01A-11D-A20C-08		22268620	68086133	9	4821											
CDYL2	124359	broad.mit.edu	37	chr16	80718510	80718510	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctccaacatgatcattcaAatccaagccaggctgatggg	8	12	3	2			TCGA-EL-A3MW-01A-11D-A20C-08	TCGA-EL-A3MW-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f349b8b-7642-4276-ad9a-5a76030309d8	ed837939-2741-45c0-90a3-8ec7995d5eb5	g.chr16:80718510A>G	ENST00000570137.2	-	2	696	c.541T>C	c.(541-543)Ttg>Ctg	p.L181L	CDYL2_ENST00000562812.1_Silent_p.L181L|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000566173.1_Silent_p.L181L|CDYL2_ENST00000563890.1_Silent_p.L181L	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	181						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						TGATCATTCAAATCCAAGCCA	0.512																																						ENST00000299564.8																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						c.(541-543)Ttg>Ctg		chromodomain protein, Y-like 2							124	110	114					16																	80718510		2203	4300	6503	SO:0001819	synonymous_variant	124359					nucleus	catalytic activity|protein binding	g.chr16:80718510A>G	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"chromodomain Y-like protein 2"			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.541T>C	16.37:g.80718510A>G						CDYL2_ENST00000563890.1_Silent_p.L181L|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000562812.1_Silent_p.L181L|CDYL2_ENST00000566173.1_Silent_p.L181L	p.L181L	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN			2	696	-			181					Q7Z5I8	Silent	SNP	ENST00000570137.2	37	c.541T>C	CCDS32493.1																																																																																				0.512	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342		3	113	0	0	0	1	0	3	113					G	80718510	A	G	80718510	2	3	228	1	0	0	0	0	0	0	0	1	3186	11	1	3		3	CDYL2	16	80718510	Silent	SNP	A	TCGA-EL-A3MW-01A-11D-A20C-08	58449890	80718510	9636243	10	4822											
CCDC42	146849	broad.mit.edu	37	chr17	8647917	8647917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcttcctcttccatgatgCccagactcatggtggcagtg	11	12	3	2			TCGA-EL-A3MW-01A-11D-A20C-08	TCGA-EL-A3MW-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f349b8b-7642-4276-ad9a-5a76030309d8	ed837939-2741-45c0-90a3-8ec7995d5eb5	g.chr17:8647917C>T	ENST00000293845.3	-	1	237	c.11G>A	c.(10-12)gGc>gAc	p.G4D	CCDC42_ENST00000539522.2_Missense_Mutation_p.G4D	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	4										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						TTCCATGATGCCCAGACTCAT	0.612																																						ENST00000293845.3																			0				kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						c.(10-12)gGc>gAc		coiled-coil domain containing 42							91	77	82					17																	8647917		2203	4300	6503	SO:0001583	missense	146849							g.chr17:8647917C>T	AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.11G>A	17.37:g.8647917C>T	ENSP00000293845:p.Gly4Asp					CCDC42_ENST00000539522.2_Missense_Mutation_p.G4D	p.G4D	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN			1	237	-			4					Q8N6Q0	Missense_Mutation	SNP	ENST00000293845.3	37	c.11G>A	CCDS11145.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426953	0.83667	.	.	ENSG00000161973	ENST00000293845;ENST00000539522	T;T	0.27402	1.67;1.76	5.14	5.14	0.70334	.	0.104471	0.42964	D	0.000638	T	0.36331	0.0963	N	0.19112	0.55	0.43175	D	0.994986	D	0.89917	1.0	D	0.87578	0.998	T	0.05370	-1.0889	10	0.09843	T	0.71	-26.3912	14.4624	0.67459	0.0:1.0:0.0:0.0	.	4	Q96M95	CCD42_HUMAN	D	4	ENSP00000293845:G4D;ENSP00000444359:G4D	ENSP00000293845:G4D	G	-	2	0	CCDC42	8588642	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.775000	0.47702	2.556000	0.86216	0.561000	0.74099	GGC		0.612	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442491.1	NM_144681		34	46	0	0	0	1	0	34	46					T	8647917	C	T	8647917	3	4	228	1	0	0	0	0	1	0	0	0	2814	739	26	2	967	2	CCDC42	17	8647917	Missense_Mutation	SNP	C	TCGA-EL-A3MW-01A-11D-A20C-08		8647917	72547293	11	4823											
UBB	7314	broad.mit.edu	37	chr17	16285491	16285491	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaccggcaagaccatcacCctggaagtggagcccagtga	12	13	1	3	rs16962973		TCGA-EL-A3MW-01A-11D-A20C-08	TCGA-EL-A3MW-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f349b8b-7642-4276-ad9a-5a76030309d8	ed837939-2741-45c0-90a3-8ec7995d5eb5	g.chr17:16285491C>T	ENST00000395837.1	+	2	451	c.270C>T	c.(268-270)acC>acT	p.T90T	UBB_ENST00000395839.1_Silent_p.T90T|UBB_ENST00000302182.3_Silent_p.T90T|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	90	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|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)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|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)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|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)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AGACCATCACCCTGGAAGTGG	0.552																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(268-270)acC>acT		ubiquitin B							75	76	75					17																	16285491		2203	4297	6500	SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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 ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285491C>T		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.270C>T	17.37:g.16285491C>T						UBB_ENST00000395837.1_Silent_p.T90T|UBB_ENST00000395839.1_Silent_p.T90T|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron	p.T90T	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	662	+			90			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.270C>T	CCDS11177.1																																																																																				0.552	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		3	84	0	0	0	1	0	3	84					T	16285491	C	T	16285491	2	4	228	1	0	0	0	0	0	0	0	1	16838	610	22	2		2	UBB	17	16285491	Silent	SNP	C	TCGA-EL-A3MW-01A-11D-A20C-08	7637574	16285491	64909719	12	4824											
GAA	2548	broad.mit.edu	37	chr17	78079688	78079688	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccggcagctggacggccgCgtgctgtgagttctgggctc	17	13	1	1	rs149814041		TCGA-EL-A3MW-01A-11D-A20C-08	TCGA-EL-A3MW-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f349b8b-7642-4276-ad9a-5a76030309d8	ed837939-2741-45c0-90a3-8ec7995d5eb5	g.chr17:78079688C>T	ENST00000302262.3	+	3	906	c.687C>T	c.(685-687)cgC>cgT	p.R229R	GAA_ENST00000390015.3_Silent_p.R229R	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	229					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	TGGACGGCCGCGTGCTGTGAG	0.657																																						ENST00000302262.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(685-687)cgC>cgT		glucosidase, alpha; acid	Acarbose(DB00284)	C	,,	0,4404		0,0,2202	36	34	34		687,687,687	-4.3	0.2	17	dbSNP_134	34	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	GAA	NM_000152.3,NM_001079803.1,NM_001079804.1	,,	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	,,	229/953,229/953,229/953	78079688	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	2548				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	g.chr17:78079688C>T		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"Pompe disease", "glycogen storage disease type II"	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.687C>T	17.37:g.78079688C>T						GAA_ENST00000390015.3_Silent_p.R229R	p.R229R	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		3	906	+	all_neural(118;0.117)		229					Q09GN4|Q14351|Q16302|Q8IWE7	Silent	SNP	ENST00000302262.3	37	c.687C>T	CCDS32760.1																																																																																				0.657	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			9	76	0	0	0	1	0	9	76					T	78079688	C	T	78079688	2	4	228	1	0	0	0	0	0	0	0	1	6147	755	27	1		1	GAA	17	78079688	Silent	SNP	C	TCGA-EL-A3MW-01A-11D-A20C-08	61794197	78079688	3115522	13	4825											
DCC	1630	broad.mit.edu	37	chr18	50866169	50866169	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttggactcctcccttgaacCcaaacatcgtggtgcgaggt	11	12	0	1			TCGA-EL-A3MW-01A-11D-A20C-08	TCGA-EL-A3MW-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f349b8b-7642-4276-ad9a-5a76030309d8	ed837939-2741-45c0-90a3-8ec7995d5eb5	g.chr18:50866169C>A	ENST00000442544.2	+	15	2867	c.2251C>A	c.(2251-2253)Cca>Aca	p.P751T	DCC_ENST00000412726.1_Missense_Mutation_p.P599T|DCC_ENST00000581580.1_Missense_Mutation_p.P406T	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	751	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCCCTTGAACCCAAACATCGT	0.473																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(2251-2253)Cca>Aca		deleted in colorectal carcinoma							225	186	199					18																	50866169		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50866169C>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.2251C>A	18.37:g.50866169C>A	ENSP00000389140:p.Pro751Thr					DCC_ENST00000412726.1_Missense_Mutation_p.P599T|DCC_ENST00000581580.1_Missense_Mutation_p.P406T	p.P751T	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	15	2867	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	751			Fibronectin type-III 4.			Missense_Mutation	SNP	ENST00000442544.2	37	c.2251C>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.852609	0.51270	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.57273	0.41;0.41	5.17	5.17	0.71159	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.58538	0.2129	L	0.48260	1.515	0.58432	D	0.999996	B;B;B	0.30664	0.018;0.018;0.289	B;B;B	0.43274	0.091;0.058;0.414	T	0.59653	-0.7414	10	0.52906	T	0.07	.	17.7948	0.88566	0.0:1.0:0.0:0.0	.	599;599;751	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	T	751;684;599	ENSP00000389140:P751T;ENSP00000397322:P599T	ENSP00000304146:P684T	P	+	1	0	DCC	49120167	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.541000	0.82084	2.565000	0.86533	0.655000	0.94253	CCA		0.473	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		7	96	1	0	5.18039e-06	1	5.18039e-06	7	96					A	50866169	C	A	50866169	3	1	228	1	0	0	0	0	1	0	0	0	4282	623	22	4	2309	4	DCC	18	50866169	Missense_Mutation	SNP	C	TCGA-EL-A3MW-01A-11D-A20C-08		50866169	27211079	14	4826											
RTTN	25914	broad.mit.edu	37	chr18	67872549	67872549	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cctgatctcggccagctgatGacctgtcaacgaacggcaca	10	14	2	3			TCGA-EL-A3MW-01A-11D-A20C-08	TCGA-EL-A3MW-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f349b8b-7642-4276-ad9a-5a76030309d8	ed837939-2741-45c0-90a3-8ec7995d5eb5	g.chr18:67872549G>C	ENST00000255674.6	-	2	320	c.34C>G	c.(34-36)Cat>Gat	p.H12D	RTTN_ENST00000437017.1_Missense_Mutation_p.H12D|RTTN_ENST00000454359.1_Missense_Mutation_p.H12D	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	12					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)				GCCAGCTGATGACCTGTCAAC	0.483																																						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.(34-36)Cat>Gat		rotatin							88	89	89					18																	67872549		1929	4130	6059	SO:0001583	missense	25914						binding	g.chr18:67872549G>C	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.34C>G	18.37:g.67872549G>C	ENSP00000255674:p.His12Asp					RTTN_ENST00000454359.1_Missense_Mutation_p.H12D|RTTN_ENST00000437017.1_Missense_Mutation_p.H12D	p.H12D	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN			2	320	-		Esophageal squamous(42;0.129)	12					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.34C>G	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.178865	0.57692	.	.	ENSG00000176225	ENST00000255674;ENST00000454359;ENST00000437017	T;T;T	0.61859	1.61;0.07;0.07	5.35	5.35	0.76521	Armadillo-type fold (2);	0.000000	0.64402	D	0.000001	T	0.75845	0.3905	M	0.68952	2.095	0.58432	D	0.999999	D;D	0.89917	1.0;0.994	D;P	0.91635	0.999;0.844	T	0.77667	-0.2502	10	0.66056	D	0.02	.	19.1024	0.93279	0.0:0.0:1.0:0.0	.	12;12	Q86VV8-2;Q86VV8	.;RTTN_HUMAN	D	12	ENSP00000255674:H12D;ENSP00000402352:H12D;ENSP00000399520:H12D	ENSP00000255674:H12D	H	-	1	0	RTTN	66023529	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	9.503000	0.97984	2.503000	0.84419	0.563000	0.77884	CAT		0.483	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		4	172	0	0	0	1	0	4	172					C	67872549	G	C	67872549	3	2	228	1	0	0	0	0	1	0	0	0	13737	1290	45	4	6838	4	RTTN	18	67872549	Missense_Mutation	SNP	G	TCGA-EL-A3MW-01A-11D-A20C-08	17006380	67872549	10204699	15	4827											
VAMP3	9341	broad.mit.edu	37	chr1	7837370	7837370	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaggaaatattggtggaagAattgcaaggtaattatcttt	11	2	1	2			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr1:7837370A>T	ENST00000054666.6	+	3	338	c.223A>T	c.(223-225)Aat>Tat	p.N75Y	VAMP3_ENST00000470357.1_Missense_Mutation_p.N47Y|RP3-467L1.6_ENST00000602406.1_RNA	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN	vesicle-associated membrane protein 3	75					calcium ion-dependent exocytosis (GO:0017156)|exocytosis (GO:0006887)|Golgi to plasma membrane protein transport (GO:0043001)|membrane fusion (GO:0061025)|positive regulation of receptor recycling (GO:0001921)|protein complex assembly (GO:0006461)|retrograde transport, endosome to Golgi (GO:0042147)|SNARE complex assembly (GO:0035493)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synapse (GO:0045202)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		TTGGTGGAAGAATTGCAAGGT	0.448																																						ENST00000054666.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6						c.(223-225)Aat>Tat		vesicle-associated membrane protein 3							87	85	86					1																	7837370		2203	4300	6503	SO:0001583	missense	9341				cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis	cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome	protein binding	g.chr1:7837370A>T	BC003570	CCDS88.1	1p36.23	2013-02-13	2012-10-17		ENSG00000049245	ENSG00000049245		"Vesicle-associated membrane proteins"	12644	protein-coding gene	gene with protein product	"cellubrevin"	603657				9885218	Standard	NM_004781		Approved	CEB	uc001aol.3	Q15836	OTTHUMG00000001225	ENST00000054666.6:c.223A>T	1.37:g.7837370A>T	ENSP00000054666:p.Asn75Tyr					VAMP3_ENST00000470357.1_Missense_Mutation_p.N47Y	p.N75Y	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)	3	338	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	75					Q9BRV4	Missense_Mutation	SNP	ENST00000054666.6	37	c.223A>T	CCDS88.1	.	.	.	.	.	.	.	.	.	.	A	31	5.071085	0.93950	.	.	ENSG00000049245	ENST00000054666	T	0.55234	0.53	6.17	6.17	0.99709	Synaptobrevin (2);	0.000000	0.85682	D	0.000000	D	0.83751	0.5322	H	0.98407	4.225	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.90070	0.4162	10	0.87932	D	0	-27.6881	16.8222	0.85835	1.0:0.0:0.0:0.0	.	75	Q15836	VAMP3_HUMAN	Y	75	ENSP00000054666:N75Y	ENSP00000054666:N75Y	N	+	1	0	VAMP3	7759957	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.237000	0.95368	2.371000	0.80710	0.533000	0.62120	AAT		0.448	VAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003625.1	NM_004781		3	21	0	0	0	1	0	3	21					T	7837370	A	T	7837370	3	4	229	1	0	0	0	0	1	0	0	0	17111	246	9	5	233	5	VAMP3	1	7837370	Missense_Mutation	SNP	A	TCGA-EL-A3MX-01A-11D-A21A-08		7837370	241413251	1	4828											
GATAD2B	57459	broad.mit.edu	37	chr1	153784245	153784245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctggcacagacaactggGgtgcctgtgcaaagtttgaa	12	10	0	2			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr1:153784245G>A	ENST00000368655.4	-	10	1853	c.1610C>T	c.(1609-1611)cCc>cTc	p.P537L		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	537					ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGACAACTGGGGTGCCTGTGC	0.517																																						ENST00000368655.4																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38						c.(1609-1611)cCc>cTc		GATA zinc finger domain containing 2B							84	84	84					1																	153784245		2203	4300	6503	SO:0001583	missense	57459					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:153784245G>A	AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"GATA zinc finger domain containing"	30778	protein-coding gene	gene with protein product	"transcription repressor p66 beta component of the MeCP1 complex"	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.1610C>T	1.37:g.153784245G>A	ENSP00000357644:p.Pro537Leu						p.P537L	NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		10	1853	-	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		537					D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Missense_Mutation	SNP	ENST00000368655.4	37	c.1610C>T	CCDS1054.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482910	0.84747	.	.	ENSG00000143614	ENST00000368655	T	0.32023	1.47	5.52	5.52	0.82312	.	0.051334	0.85682	D	0.000000	T	0.17662	0.0424	L	0.43923	1.385	0.80722	D	1	P	0.37781	0.608	B	0.32289	0.143	T	0.03034	-1.1080	10	0.52906	T	0.07	-1.0494	18.37	0.90403	0.0:0.0:1.0:0.0	.	537	Q8WXI9	P66B_HUMAN	L	537	ENSP00000357644:P537L	ENSP00000357644:P537L	P	-	2	0	GATAD2B	152050869	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.186000	0.94906	2.873000	0.98535	0.563000	0.77884	CCC		0.517	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1	NM_020699		3	107	0	0	0	1	0	3	107					A	153784245	G	A	153784245	3	1	229	1	0	0	0	0	1	0	0	0	6261	1232	43	2	179	2	GATAD2B	1	153784245	Missense_Mutation	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08	145946875	153784245	95466376	2	4829											
ATP1A2	477	broad.mit.edu	37	chr1	160105253	160105253	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggccgtgacgggtgacggGgtgaacgactcccctgcatt	16	11	0	3			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr1:160105253G>A	ENST00000361216.3	+	16	2234	c.2145G>A	c.(2143-2145)ggG>ggA	p.G715G	ATP1A2_ENST00000392233.3_Silent_p.G715G	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	715			G -> R (in FHM2; de novo mutation in a sporadic case). {ECO:0000269|PubMed:21352219}.		adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CGGGTGACGGGGTGAACGACT	0.602																																						ENST00000361216.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(2143-2145)ggG>ggA		ATPase, Na+/K+ transporting, alpha 2 polypeptide							172	124	140					1																	160105253		2203	4300	6503	SO:0001819	synonymous_variant	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160105253G>A	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"ATPases / P-type"	800	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-2", "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2"	182340	"migraine, hemiplegic 2", "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.2145G>A	1.37:g.160105253G>A						ATP1A2_ENST00000392233.3_Silent_p.G715G|ATP1A2_ENST00000472488.1_3'UTR	p.G715G	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		16	2234	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		715		G -> R (in FHM2; de novo mutation in a sporadic case).			D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	37	c.2145G>A	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	G	9.135	1.012326	0.19277	.	.	ENSG00000018625	ENST00000447527	D	0.99483	-5.99	4.31	-2.77	0.05877	.	0.000000	0.85682	D	0.000000	D	0.97707	0.9248	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.94172	0.7424	7	0.87932	D	0	.	0.9605	0.01394	0.2612:0.1214:0.1724:0.445	.	.	.	.	E	426	ENSP00000411705:G426E	ENSP00000411705:G426E	G	+	2	0	ATP1A2	158371877	0.000000	0.05858	0.892000	0.35008	0.867000	0.49689	-2.311000	0.01128	-0.395000	0.07715	0.561000	0.74099	GGG		0.602	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		5	116	0	0	0	1	0	5	116					A	160105253	G	A	160105253	2	1	229	1	0	0	0	0	0	0	0	1	1129	1219	43	2		2	ATP1A2	1	160105253	Silent	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08	6321008	160105253	89145368	3	4830											
NRXN1	9378	broad.mit.edu	37	chr2	50149344	50149344	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggactcccggatcacttctGctgagcctggatacggctct	11	13	3	1			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr2:50149344G>C	ENST00000406316.2	-	22	5648	c.4172C>G	c.(4171-4173)gCa>gGa	p.A1391G	NRXN1_ENST00000404971.1_Missense_Mutation_p.A1461G|NRXN1_ENST00000342183.5_Missense_Mutation_p.A356G|NRXN1_ENST00000406859.3_Missense_Mutation_p.A1391G|NRXN1_ENST00000401710.1_Missense_Mutation_p.A409G|NRXN1_ENST00000402717.3_Missense_Mutation_p.A1413G|NRXN1_ENST00000405472.3_Missense_Mutation_p.A1413G|NRXN1_ENST00000401669.2_Missense_Mutation_p.A1421G	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1391					adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GATCACTTCTGCTGAGCCTGG	0.532																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(4381-4383)gCa>gGa		neurexin 1							60	51	54					2																	50149344		2203	4300	6503	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50149344G>C	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.4172C>G	2.37:g.50149344G>C	ENSP00000384311:p.Ala1391Gly					NRXN1_ENST00000402717.3_Missense_Mutation_p.A1413G|NRXN1_ENST00000401669.2_Missense_Mutation_p.A1421G|NRXN1_ENST00000406859.3_Missense_Mutation_p.A1391G|NRXN1_ENST00000406316.2_Missense_Mutation_p.A1391G|NRXN1_ENST00000405472.3_Missense_Mutation_p.A1413G|NRXN1_ENST00000401710.1_Missense_Mutation_p.A409G|NRXN1_ENST00000342183.5_Missense_Mutation_p.A356G	p.A1461G	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		24	5721	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	1391					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.4382C>G	CCDS54360.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	10.19|10.19|10.19	1.282844|1.282844|1.282844	0.23392|0.23392|0.23392	.|.|.	.|.|.	ENSG00000179915|ENSG00000179915|ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859|ENST00000412315|ENST00000378262	T;T;T;T;T;T;T;T|.|T	0.70399|.|0.64260	1.03;2.2;0.23;0.18;-0.48;-0.37;-0.08;0.05|.|-0.09	5.95|5.95|5.95	5.95|5.95|5.95	0.96441|0.96441|0.96441	.|.|.	0.428033|.|.	0.17506|.|.	U|.|.	0.171786|.|.	T|T|T	0.64238|0.64238|0.64238	0.2580|0.2580|0.2580	L|L|L	0.36672|0.36672|0.36672	1.1|1.1|1.1	0.20403|0.20403|0.20403	N|N|N	0.999901|0.999901|0.999901	B;B;B;B;B;B|.|.	0.25007|.|.	0.002;0.053;0.116;0.015;0.032;0.013|.|.	B;B;B;B;B;B|.|.	0.29524|.|.	0.006;0.096;0.103;0.008;0.044;0.025|.|.	T|T|T	0.61695|0.61695|0.61695	-0.7010|-0.7010|-0.7010	10|5|7	0.52906|.|0.72032	T|.|D	0.07|.|0.01	.|.|.	15.9241|15.9241|15.9241	0.79603|0.79603|0.79603	0.0:0.0:0.8643:0.1357|0.0:0.0:0.8643:0.1357|0.0:0.0:0.8643:0.1357	.|.|.	56;1461;356;1391;1410;53|.|.	B4DIT5;Q9ULB1-3;P58400;F8WB18;A7E294;Q5HYI0|.|.	.;.;NRX1B_HUMAN;.;.;.|.|.	G|E|R	356;310;409;1461;1391;1413;1421;1462;1413;1391|124|57	ENSP00000341184:A356G;ENSP00000385580:A409G;ENSP00000385142:A1461G;ENSP00000384311:A1391G;ENSP00000434015:A1413G;ENSP00000385017:A1421G;ENSP00000385434:A1413G;ENSP00000385681:A1391G|.|ENSP00000367510:S57R	ENSP00000341184:A356G|.|ENSP00000367510:S57R	A|Q|S	-|-|-	2|1|3	0|0|2	NRXN1|NRXN1|NRXN1	50002848|50002848|50002848	0.995000|0.995000|0.995000	0.38212|0.38212|0.38212	0.912000|0.912000|0.912000	0.35992|0.35992|0.35992	0.973000|0.973000|0.973000	0.67179|0.67179|0.67179	6.016000|6.016000|6.016000	0.70798|0.70798|0.70798	2.817000|2.817000|2.817000	0.96982|0.96982|0.96982	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GCA|CAG|AGC		0.532	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			21	40	0	0	0	1	0	21	40					C	50149344	G	C	50149344	3	2	229	1	0	0	0	0	1	0	0	0	10665	1319	46	4	265	4	NRXN1	2	50149344	Missense_Mutation	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08		50149344	193050029	4	4831											
ASPRV1	151516	broad.mit.edu	37	chr2	70188128	70188128	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgcagggtgtccagatcGccatcagtgacctcctccca	11	15	1	2	rs143824935		TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr2:70188128G>A	ENST00000320256.4	-	1	1269	c.693C>T	c.(691-693)ggC>ggT	p.G231G	PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000419542.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1											endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						TGTCCAGATCGCCATCAGTGA	0.567																																						ENST00000320256.4																			0				endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						c.(691-693)ggC>ggT		aspartic peptidase, retroviral-like 1		G		0,4406		0,0,2203	87	83	84		693	-7.5	0.0	2	dbSNP_134	84	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ASPRV1	NM_152792.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		231/344	70188128	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	151516				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity	g.chr2:70188128G>A	AK055994	CCDS1897.1	2p13.3	2008-02-20			ENSG00000244617	ENSG00000244617			26321	protein-coding gene	gene with protein product	"Skin ASpartic Protease"	611765				16098038, 16565508	Standard	NM_152792		Approved	Taps, SASPase, FLJ25084	uc002sfz.4	Q53RT3	OTTHUMG00000129647	ENST00000320256.4:c.693C>T	2.37:g.70188128G>A							p.G231G	NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN			1	1269	-			231			Peptidase A2.			Silent	SNP	ENST00000320256.4	37	c.693C>T	CCDS1897.1																																																																																				0.567	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1	NM_152792		6	88	0	0	0	1	0	6	88					A	70188128	G	A	70188128	2	1	229	1	0	0	0	0	0	0	0	1	1058	1074	38	1		1	ASPRV1	2	70188128	Silent	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08	20038784	70188128	173011245	5	4832											
AFF3	3899	broad.mit.edu	37	chr2	100209825	100209825	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtcaggtcgattttgacccaGagagacctgatctcatcact	9	11	3	4	rs143928698		TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr2:100209825G>C	ENST00000409236.2	-	13	2410	c.2298C>G	c.(2296-2298)ctC>ctG	p.L766L	AFF3_ENST00000356421.2_Silent_p.L791L|AFF3_ENST00000317233.4_Silent_p.L766L|AFF3_ENST00000409579.1_Silent_p.L791L			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	766					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TTTTGACCCAGAGAGACCTGA	0.582																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(2296-2298)ctC>ctG		AF4/FMR2 family, member 3		G	,	1,4405	2.1+/-5.4	0,1,2202	69	64	66		2373,2298	2.5	1.0	2	dbSNP_134	66	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	AFF3	NM_001025108.1,NM_002285.2	,	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	,	791/1252,766/1227	100209825	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100209825G>C	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2298C>G	2.37:g.100209825G>C						AFF3_ENST00000409236.1_Silent_p.L766L|AFF3_ENST00000409579.1_Silent_p.L791L|AFF3_ENST00000356421.2_Silent_p.L791L	p.L766L	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			14	2533	-			766					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	c.2298C>G	CCDS42723.1																																																																																				0.582	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		3	67	0	0	0	1	0	3	67					C	100209825	G	C	100209825	2	2	229	1	0	0	0	0	0	0	0	1	358	929	33	4		4	AFF3	2	100209825	Silent	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08	30021697	100209825	142989548	6	4833											
CXCR1	3577	broad.mit.edu	37	chr2	219029655	219029655	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccttggaggcggcccagaTgggcaaggtcagggcaaaga	16	10	1	2			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr2:219029655T>C	ENST00000295683.2	-	2	400	c.280A>G	c.(280-282)Atc>Gtc	p.I94V		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	94					cell surface receptor signaling pathway (GO:0007166)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|receptor internalization (GO:0031623)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13					Ketoprofen(DB01009)	GCGGCCCAGATGGGCAAGGTC	0.557																																						ENST00000295683.2																			0				endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						c.(280-282)Atc>Gtc		chemokine (C-X-C motif) receptor 1							102	99	100					2																	219029655		2203	4300	6503	SO:0001583	missense	3577				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity	g.chr2:219029655T>C	U11870	CCDS2409.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000163464	ENSG00000163464		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif", "Interleukins and interleukin receptors"	6026	protein-coding gene	gene with protein product		146929	"interleukin 8 receptor, alpha"	CMKAR1, IL8RA		1303245, 1427896	Standard	NM_000634		Approved	CKR-1, CDw128a, CD181	uc002vhc.3	P25024	OTTHUMG00000133108	ENST00000295683.2:c.280A>G	2.37:g.219029655T>C	ENSP00000295683:p.Ile94Val						p.I94V	NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN			2	400	-			94					B2R6Q3|Q2YEF8|Q2YEG4|Q2YEG5|Q2YEG7|Q2YEG8|Q53R18|Q6IN95|Q8N6T6|Q9P2T8|Q9P2T9|Q9P2U0|Q9P2U1|Q9P2U2	Missense_Mutation	SNP	ENST00000295683.2	37	c.280A>G	CCDS2409.1	.	.	.	.	.	.	.	.	.	.	T	11.62	1.691602	0.30052	.	.	ENSG00000163464	ENST00000295683	T	0.36878	1.23	5.35	-0.818	0.10833	GPCR, rhodopsin-like superfamily (1);	0.170895	0.51477	N	0.000093	T	0.18467	0.0443	L	0.27944	0.81	0.24730	N	0.993095	B	0.13594	0.008	B	0.21360	0.034	T	0.07252	-1.0782	10	0.39692	T	0.17	.	2.1748	0.03859	0.359:0.0764:0.1188:0.4458	.	94	P25024	CXCR1_HUMAN	V	94	ENSP00000295683:I94V	ENSP00000295683:I94V	I	-	1	0	CXCR1	218737900	0.000000	0.05858	0.999000	0.59377	0.997000	0.91878	-0.258000	0.08733	0.298000	0.22638	0.533000	0.62120	ATC		0.557	CXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256773.2	NM_000634		41	87	0	0	0	1	0	41	87					C	219029655	T	C	219029655	3	2	229	1	0	0	0	0	1	0	0	0	4090	1464	51	3	776	3	CXCR1	2	219029655	Missense_Mutation	SNP	T	TCGA-EL-A3MX-01A-11D-A21A-08	118819830	219029655	24169718	7	4834											
IMPDH2	25915	broad.mit.edu	37	chr3	49062646	49062646	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccggaacaccaaagcgccGtgcatactctgacaccttgt	9	14	1	1			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr3:49062646G>A	ENST00000326925.6	+	0	2012				IMPDH2_ENST00000326739.4_Missense_Mutation_p.R355W|DALRD3_ENST00000496568.1_5'Flank	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3						mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						CCAAAGCGCCGTGCATACTCT	0.557																																						ENST00000326739.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16						c.(1063-1065)Cgg>Tgg		IMP (inosine 5'-monophosphate) dehydrogenase 2	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)						108	112	110					3																	49062646		2203	4300	6503	SO:0001628	intergenic_variant	3615				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding	g.chr3:49062646G>A		CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"Mitochondrial respiratory chain complex assembly factors"	29918	protein-coding gene	gene with protein product		612911	"chromosome 3 open reading frame 60", "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773		3.37:g.49062646G>A							p.R355W	NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	10	1102	-			355						Missense_Mutation	SNP	ENST00000326925.6	37	c.1063C>T	CCDS2784.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.66|13.66	2.304528|2.304528	0.40795|0.40795	.|.	.|.	ENSG00000178035|ENSG00000178035	ENST00000326739|ENST00000429182	T|.	0.79653|.	-1.29|.	5.33|5.33	2.49|2.49	0.30216|0.30216	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85961|0.85961	0.5819|0.5819	H|H	0.95917|0.95917	3.74|3.74	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.72338|.	0.977|.	D|D	0.88870|0.88870	0.3332|0.3332	9|5	.|.	.|.	.|.	-12.6352|-12.6352	14.1118|14.1118	0.65126|0.65126	0.0:0.0:0.4849:0.5151|0.0:0.0:0.4849:0.5151	.|.	355|.	P12268|.	IMDH2_HUMAN|.	W|M	355|310	ENSP00000321584:R355W|.	.|.	R|T	-|-	1|2	2|0	IMPDH2|IMPDH2	49037650|49037650	0.652000|0.652000	0.27349|0.27349	0.979000|0.979000	0.43373|0.43373	0.967000|0.967000	0.64934|0.64934	0.805000|0.805000	0.27112|0.27112	0.214000|0.214000	0.20742|0.20742	-0.181000|-0.181000	0.13052|0.13052	CGG|ACG		0.557	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2	NM_199069		30	264	0	0	0	1	0	30	264					A	49062646	G	A	49062646	1	1	229	0	1	0	0	0	0	0	0	0	7727	1144	40	1		1	IMPDH2	3	49062646	IGR	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08		49062646	148959784	8	4835											
PHLDB2	90102	broad.mit.edu	37	chr3	111671550	111671550	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctactatggggagaagcatCaccccaaaggtaggacctgg	13	10	1	1			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr3:111671550C>T	ENST00000431670.2	+	11	3174	c.2763C>T	c.(2761-2763)atC>atT	p.I921I	PHLDB2_ENST00000495180.1_Intron|PHLDB2_ENST00000412622.1_Silent_p.I878I|PHLDB2_ENST00000393925.3_Silent_p.I921I|PHLDB2_ENST00000393923.3_Silent_p.I905I|PHLDB2_ENST00000481953.1_Silent_p.I878I	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	921						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GGAGAAGCATCACCCCAAAGG	0.453																																						ENST00000431670.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(2761-2763)atC>atT		pleckstrin homology-like domain, family B, member 2							98	94	95					3																	111671550		2203	4300	6503	SO:0001819	synonymous_variant	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111671550C>T		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"Pleckstrin homology (PH) domain containing"	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.2763C>T	3.37:g.111671550C>T						PHLDB2_ENST00000393925.3_Silent_p.I921I|PHLDB2_ENST00000412622.1_Silent_p.I878I|PHLDB2_ENST00000481953.1_Silent_p.I878I|PHLDB2_ENST00000495180.1_Intron|PHLDB2_ENST00000393923.3_Silent_p.I905I	p.I921I	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN			11	3174	+			921					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Silent	SNP	ENST00000431670.2	37	c.2763C>T	CCDS46886.1																																																																																				0.453	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		16	59	0	0	0	1	0	16	59					T	111671550	C	T	111671550	2	4	229	1	0	0	0	0	0	0	0	1	11852	816	29	2		2	PHLDB2	3	111671550	Silent	SNP	C	TCGA-EL-A3MX-01A-11D-A21A-08	62608904	111671550	86350880	9	4836											
ETV5	2119	broad.mit.edu	37	chr3	185766571	185766571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgccttcaggaacggacGctggttatccgggaaagcca	12	12	2	0	rs201212469		TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr3:185766571G>A	ENST00000306376.5	-	13	1636	c.1390C>T	c.(1390-1392)Cgt>Tgt	p.R464C	ETV5_ENST00000480706.1_5'UTR|ETV5_ENST00000537818.1_Missense_Mutation_p.R506C|ETV5_ENST00000434744.1_Missense_Mutation_p.R464C	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	464					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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 RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			AGGAACGGACGCTGGTTATCC	0.577			T	"TMPRSS2, SCL45A3"	Prostate								G|||	1	0.000199681	0	0	5008	,	,		16639	0		0.001	False		,,,				2504	0					ENST00000306376.5				Dom	yes		3	3q28	2119	T	ets variant gene 5			E	"TMPRSS2, SCL45A3"		Prostate		0				breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28						c.(1390-1392)Cgt>Tgt		ets variant 5							76	66	69					3																	185766571		2203	4300	6503	SO:0001583	missense	2119				cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:185766571G>A	BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"ets-related molecule"	601600	"ets variant gene 5 (ets-related molecule)"			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.1390C>T	3.37:g.185766571G>A	ENSP00000306894:p.Arg464Cys					ETV5_ENST00000434744.1_Missense_Mutation_p.R464C|ETV5_ENST00000480706.1_5'UTR|ETV5_ENST00000537818.1_Missense_Mutation_p.R506C	p.R464C	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)		13	1636	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		464					A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	ENST00000306376.5	37	c.1390C>T	CCDS33906.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.60	2.584383	0.46110	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818	T;T;T	0.55930	0.49;0.49;0.49	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.72716	0.3495	M	0.66939	2.045	0.58432	D	0.999998	P;D	0.89917	0.706;1.0	B;D	0.76071	0.135;0.987	T	0.72447	-0.4291	10	0.66056	D	0.02	.	19.3923	0.94587	0.0:0.0:1.0:0.0	.	464;506	P41161;B7Z7D7	ETV5_HUMAN;.	C	464;464;506	ENSP00000306894:R464C;ENSP00000413755:R464C;ENSP00000441737:R506C	ENSP00000306894:R464C	R	-	1	0	ETV5	187249265	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.441000	0.52893	2.882000	0.98803	0.655000	0.94253	CGT		0.577	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	NM_004454		28	31	0	0	0	1	0	28	31					A	185766571	G	A	185766571	3	1	229	1	0	0	0	0	1	0	0	0	5282	1087	38	1	146	1	ETV5	3	185766571	Missense_Mutation	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08	74095021	185766571	12255859	10	4837											
LYAR	55646	broad.mit.edu	37	chr4	4276212	4276212	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagagccattggcctcaggGacttcctccccaccagcctc	9	18	1	1			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr4:4276212G>A	ENST00000343470.4	-	7	954	c.714C>T	c.(712-714)gtC>gtT	p.V238V	LYAR_ENST00000452476.1_Silent_p.V238V	NM_017816.2	NP_060286	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	238	Lys-rich.					nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGGCCTCAGGGACTTCCTCCC	0.547																																						ENST00000343470.4																			0				endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17						c.(712-714)gtC>gtT		Ly1 antibody reactive							253	244	247					4																	4276212		2203	4300	6503	SO:0001819	synonymous_variant	55646					nucleolus	metal ion binding|protein binding	g.chr4:4276212G>A	AL136750	CCDS3374.1	4p16.3	2013-01-10	2012-12-07		ENSG00000145220	ENSG00000145220		"Zinc fingers, C2HC-type containing"	26021	protein-coding gene	gene with protein product			"Ly1 antibody reactive homolog (mouse)"			11230166, 8491376	Standard	NM_001145725		Approved	ZC2HC2, ZLYAR	uc003ght.3	Q9NX58	OTTHUMG00000125477	ENST00000343470.4:c.714C>T	4.37:g.4276212G>A						LYAR_ENST00000452476.1_Silent_p.V238V	p.V238V	NM_017816.2	NP_060286.1	Q9NX58	LYAR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	7	954	-			238			Lys-rich.		D3DVS4|Q6FI78|Q9NYS1	Silent	SNP	ENST00000343470.4	37	c.714C>T	CCDS3374.1																																																																																				0.547	LYAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246800.2	NM_017816		114	133	0	0	0	1	0	114	133					A	4276212	G	A	4276212	2	1	229	1	0	0	0	0	0	0	0	1	9103	1161	41	2		2	LYAR	4	4276212	Silent	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08		4276212	186878064	11	4838											
TRIO	7204	broad.mit.edu	37	chr5	14293176	14293176	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctaaacagctacacagagaTtgggaccagccaccctcatg	8	13	2	1			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr5:14293176T>C	ENST00000344204.4	+	6	1133	c.1109T>C	c.(1108-1110)aTt>aCt	p.I370T	TRIO_ENST00000537187.1_Missense_Mutation_p.I370T|TRIO_ENST00000509967.2_Missense_Mutation_p.I321T	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	370					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TACACAGAGATTGGGACCAGC	0.493																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(1108-1110)aTt>aCt		trio Rho guanine nucleotide exchange factor							142	121	128					5																	14293176		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14293176T>C	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.1109T>C	5.37:g.14293176T>C	ENSP00000339299:p.Ile370Thr					TRIO_ENST00000537187.1_Missense_Mutation_p.I370T|TRIO_ENST00000509967.2_Missense_Mutation_p.I321T	p.I370T	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			6	1133	+	Lung NSC(4;0.000742)		370					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.1109T>C	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	T	17.56	3.420296	0.62622	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.52983	0.64;0.64;0.64	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.70902	0.3277	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.991	D;D;D	0.91635	0.999;0.999;0.991	T	0.76080	-0.3090	10	0.66056	D	0.02	.	14.9321	0.70923	0.0:0.0:0.0:1.0	.	321;370;370	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	T	370;370;321;57	ENSP00000339299:I370T;ENSP00000446348:I370T;ENSP00000445592:I321T	ENSP00000339299:I370T	I	+	2	0	TRIO	14346176	1.000000	0.71417	0.990000	0.47175	0.930000	0.56654	8.040000	0.89188	1.935000	0.56089	0.459000	0.35465	ATT		0.493	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		26	64	0	0	0	1	0	26	64					C	14293176	T	C	14293176	3	2	229	1	0	0	0	0	1	0	0	0	16549	1493	52	3	1131	3	TRIO	5	14293176	Missense_Mutation	SNP	T	TCGA-EL-A3MX-01A-11D-A21A-08		14293176	166622084	12	4839											
COL11A2	1302	broad.mit.edu	37	chr6	33141287	33141287	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggtcaacttaccgggggtcCtttcggtccaggaaacccgt	13	12	1	0			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr6:33141287C>G	ENST00000374708.4	-	34	2674	c.2416G>C	c.(2416-2418)Gga>Cga	p.G806R	COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Missense_Mutation_p.G811R|COL11A2_ENST00000357486.1_Missense_Mutation_p.G871R|COL11A2_ENST00000341947.2_Missense_Mutation_p.G892R|COL11A2_ENST00000374713.1_Missense_Mutation_p.G845R|COL11A2_ENST00000361917.1_Missense_Mutation_p.G785R|COL11A2_ENST00000374714.1_Missense_Mutation_p.G866R|COL11A2_ENST00000395197.1_Missense_Mutation_p.G832R	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	892	Collagen-like 4.|Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ACCGGGGGTCCTTTCGGTCCA	0.612																																					Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(2674-2676)Gga>Cga		collagen, type XI, alpha 2							51	62	58					6																	33141287		2201	4296	6497	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33141287C>G	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"Collagens"	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.2416G>C	6.37:g.33141287C>G	ENSP00000363840:p.Gly806Arg					COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Missense_Mutation_p.G811R|COL11A2_ENST00000374708.4_Missense_Mutation_p.G806R|COL11A2_ENST00000357486.1_Missense_Mutation_p.G871R|COL11A2_ENST00000374714.1_Missense_Mutation_p.G866R|COL11A2_ENST00000395197.1_Missense_Mutation_p.G832R|COL11A2_ENST00000361917.1_Missense_Mutation_p.G785R|COL11A2_ENST00000374713.1_Missense_Mutation_p.G845R	p.G892R	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			36	2901	-			892			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.2674G>C	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.481826	0.84747	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.99353	-5.53;-5.53;-5.53;-5.53;-5.53;-5.53;-5.77;-5.77	4.02	4.02	0.46733	.	0.000000	0.85682	D	0.000000	D	0.99635	0.9866	H	0.97315	3.98	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	D	0.97543	1.0087	10	0.87932	D	0	.	14.0539	0.64754	0.0:1.0:0.0:0.0	.	785;806;892	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	R	806;892;871;866;845;832;811;785	ENSP00000363840:G806R;ENSP00000339915:G892R;ENSP00000350079:G871R;ENSP00000363846:G866R;ENSP00000363845:G845R;ENSP00000378623:G832R;ENSP00000363844:G811R;ENSP00000355123:G785R	ENSP00000339915:G892R	G	-	1	0	COL11A2	33249265	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.497000	0.81536	2.246000	0.74042	0.637000	0.83480	GGA		0.612	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			11	103	0	0	0	1	0	11	103					G	33141287	C	G	33141287	3	3	229	1	0	0	0	0	1	0	0	0	3668	690	24	4	2660	4	COL11A2	6	33141287	Missense_Mutation	SNP	C	TCGA-EL-A3MX-01A-11D-A21A-08		33141287	137973780	13	4840											
LEMD2	221496	broad.mit.edu	37	chr6	33744785	33744785	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggatgcctacatatggaTagcgctccatgtcctgctcc	10	13	0	0			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr6:33744785T>C	ENST00000293760.5	-	8	1326	c.1307A>G	c.(1306-1308)tAt>tGt	p.Y436C	LEMD2_ENST00000502643.1_5'Flank|LEMD2_ENST00000508327.1_Missense_Mutation_p.Y134C	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	436					negative regulation of MAPK cascade (GO:0043409)|skeletal muscle cell differentiation (GO:0035914)	integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear membrane (GO:0031965)				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						TACATATGGATAGCGCTCCAT	0.622																																						ENST00000293760.5																			0				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						c.(1306-1308)tAt>tGt		LEM domain containing 2							119	95	103					6																	33744785		2203	4300	6503	SO:0001583	missense	221496					integral to nuclear inner membrane		g.chr6:33744785T>C		CCDS4785.1, CCDS47411.1	6p21.31	2009-11-06			ENSG00000161904	ENSG00000161904			21244	protein-coding gene	gene with protein product						12477932	Standard	NM_001143944		Approved	dJ482C21.1, NET25	uc011drm.2	Q8NC56	OTTHUMG00000014535	ENST00000293760.5:c.1307A>G	6.37:g.33744785T>C	ENSP00000293760:p.Tyr436Cys					LEMD2_ENST00000508327.1_Missense_Mutation_p.Y134C	p.Y436C	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN			8	1326	-			436					B4DVH5|E7EVT2|Q5T972|Q5T974	Missense_Mutation	SNP	ENST00000293760.5	37	c.1307A>G	CCDS4785.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.308969	0.81247	.	.	ENSG00000161904	ENST00000506578;ENST00000293760;ENST00000508327	.	.	.	5.66	5.66	0.87406	Inner nuclear membrane protein MAN1 (1);	0.000000	0.52532	D	0.000072	T	0.63414	0.2509	L	0.44542	1.39	0.50313	D	0.999863	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.98	T	0.68368	-0.5427	9	0.72032	D	0.01	-4.5504	15.9078	0.79445	0.0:0.0:0.0:1.0	.	436;397	Q8NC56;A8MS91	LEMD2_HUMAN;.	C	19;436;134	.	ENSP00000293760:Y436C	Y	-	2	0	LEMD2	33852763	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	4.038000	0.57318	2.144000	0.66660	0.460000	0.39030	TAT		0.622	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040209.3	XM_166338		12	69	0	0	0	1	0	12	69					C	33744785	T	C	33744785	3	2	229	1	0	0	0	0	1	0	0	0	8720	1406	49	3	212	3	LEMD2	6	33744785	Missense_Mutation	SNP	T	TCGA-EL-A3MX-01A-11D-A21A-08	603498	33744785	137370282	14	4841											
TBC1D22B	55633	broad.mit.edu	37	chr6	37225722	37225722	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagaacagcaagcagttttGgaagaggagcgctaagctgc	14	7	0	2			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr6:37225722G>A	ENST00000373491.3	+	1	175	c.29G>A	c.(28-30)tGg>tAg	p.W10*	TMEM217_ENST00000497775.1_5'Flank|TMEM217_ENST00000336655.2_5'Flank|TMEM217_ENST00000356757.2_5'Flank	NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	10							Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			AAGCAGTTTTGGAAGAGGAGC	0.622																																						ENST00000373491.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15						c.(28-30)tGg>tAg		TBC1 domain family, member 22B							38	32	34					6																	37225722		2203	4300	6503	SO:0001587	stop_gained	55633					intracellular	Rab GTPase activator activity	g.chr6:37225722G>A	AK096340	CCDS4832.1	6p21.2	2005-01-05	2005-01-05	2005-01-05	ENSG00000065491	ENSG00000065491			21602	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 197"	C6orf197			Standard	NM_017772		Approved	FLJ20337, dJ744I24.2	uc003onn.3	Q9NU19	OTTHUMG00000014619	ENST00000373491.3:c.29G>A	6.37:g.37225722G>A	ENSP00000362590:p.Trp10*						p.W10*	NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	OV - Ovarian serous cystadenocarcinoma(102;0.241)		1	175	+			10					A8KA28|Q32MQ8|Q5VUK9|Q6P4C3|Q7Z6P7|Q9BPV6|Q9BUT5|Q9NXB6	Nonsense_Mutation	SNP	ENST00000373491.3	37	c.29G>A	CCDS4832.1	.	.	.	.	.	.	.	.	.	.	G	39	7.469150	0.98302	.	.	ENSG00000065491	ENST00000373491	.	.	.	5.62	4.75	0.60458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.9599	0.53003	0.0825:0.0:0.9175:0.0	.	.	.	.	X	10	.	ENSP00000362590:W10X	W	+	2	0	TBC1D22B	37333700	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.232000	0.65332	1.363000	0.46019	0.655000	0.94253	TGG		0.622	TBC1D22B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040402.1	NM_017772		9	39	0	0	0	1	0	9	39					A	37225722	G	A	37225722	4	1	229	1	0	0	0	0	0	1	0	0	15609	1357	47	2	31	2	TBC1D22B	6	37225722	Nonsense_Mutation	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08	3480937	37225722	133889345	15	4842											
MDN1	23195	broad.mit.edu	37	chr6	90368423	90368423	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagactgctgctgctcctcaGagtgttcttcaggatgctga	11	11	3	3			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr6:90368423G>A	ENST00000369393.3	-	89	15042	c.14927C>T	c.(14926-14928)tCt>tTt	p.S4976F	MDN1_ENST00000428876.1_Missense_Mutation_p.S4976F			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4976					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTGCTCCTCAGAGTGTTCTTC	0.532																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(14926-14928)tCt>tTt		MDN1, midasin homolog (yeast)							277	242	254					6																	90368423		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90368423G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.14927C>T	6.37:g.90368423G>A	ENSP00000358400:p.Ser4976Phe					MDN1_ENST00000428876.1_Missense_Mutation_p.S4976F	p.S4976F			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	89	15042	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	4976					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.14927C>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	9.088	1.000905	0.19121	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03330	3.97;3.97	5.09	0.807	0.18714	.	1.362210	0.04771	N	0.427984	T	0.00936	0.0031	N	0.22421	0.69	0.09310	N	1	B	0.26318	0.146	B	0.18871	0.023	T	0.47471	-0.9115	10	0.59425	D	0.04	.	4.8777	0.13664	0.1691:0.0:0.435:0.396	.	4976	Q9NU22	MDN1_HUMAN	F	4976	ENSP00000358400:S4976F;ENSP00000413970:S4976F	ENSP00000358400:S4976F	S	-	2	0	MDN1	90425144	0.004000	0.15560	0.002000	0.10522	0.015000	0.08874	0.850000	0.27737	0.211000	0.20683	0.555000	0.69702	TCT		0.532	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			12	147	0	0	0	1	0	12	147					A	90368423	G	A	90368423	3	1	229	1	0	0	0	0	1	0	0	0	9415	942	33	2	1919	2	MDN1	6	90368423	Missense_Mutation	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08	53142701	90368423	80746644	16	4843											
HIBADH	11112	broad.mit.edu	37	chr7	27570874	27570874	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gccgagggaacgccatccatCactccaggtacaggattata	10	12	1	0			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr7:27570874C>A	ENST00000265395.2	-	7	995	c.789G>T	c.(787-789)gtG>gtT	p.V263V		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	263					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	3-hydroxyisobutyrate dehydrogenase activity (GO:0008442)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)			CGCCATCCATCACTCCAGGTA	0.443																																						ENST00000265395.2																			0				endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12						c.(787-789)gtG>gtT		3-hydroxyisobutyrate dehydrogenase	NADH(DB00157)						140	121	128					7																	27570874		2203	4300	6503	SO:0001819	synonymous_variant	11112				branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity	g.chr7:27570874C>A	AF529362	CCDS5414.1	7p15	2009-06-12			ENSG00000106049	ENSG00000106049	1.1.1.31		4907	protein-coding gene	gene with protein product		608475					Standard	NM_152740		Approved	NS5ATP1	uc003szf.3	P31937	OTTHUMG00000097035	ENST00000265395.2:c.789G>T	7.37:g.27570874C>A							p.V263V	NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	GBM - Glioblastoma multiforme(3;0.0368)		7	995	-			263					Q546Z2|Q9UDN3	Silent	SNP	ENST00000265395.2	37	c.789G>T	CCDS5414.1	.	.	.	.	.	.	.	.	.	.	C	1.104	-0.660103	0.03454	.	.	ENSG00000106049	ENST00000425715	.	.	.	6.17	4.02	0.46733	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-21.0862	8.3201	0.32124	0.1229:0.6928:0.1136:0.0708	.	.	.	.	L	206	.	.	X	-	2	2	HIBADH	27537399	0.996000	0.38824	1.000000	0.80357	0.285000	0.27093	0.412000	0.21131	1.564000	0.49628	0.655000	0.94253	TGA		0.443	HIBADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214132.1	NM_152740		6	71	1	0	0.00307968	1	0.00307968	6	71					A	27570874	C	A	27570874	2	1	229	1	0	0	0	0	0	0	0	1	7099	813	29	4		4	HIBADH	7	27570874	Silent	SNP	C	TCGA-EL-A3MX-01A-11D-A21A-08		27570874	131567789	17	4844											
NSUN5	55695	broad.mit.edu	37	chr7	72718830	72718830	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatgggagcctggcgggggGtccagcagcatggctgggag	20	9	0	0			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr7:72718830G>A	ENST00000252594.6	-	6	684	c.669C>T	c.(667-669)gaC>gaT	p.D223D	NSUN5_ENST00000310326.8_Silent_p.D223D|NSUN5_ENST00000428206.1_Silent_p.D185D|NSUN5_ENST00000438747.2_Silent_p.D223D			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	223					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				CTGGCGGGGGGTCCAGCAGCA	0.617																																						ENST00000428206.1																			0				breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(553-555)gaC>gaT		NOP2/Sun domain family, member 5							36	39	38					7																	72718830		2203	4300	6503	SO:0001819	synonymous_variant	55695						methyltransferase activity	g.chr7:72718830G>A	AF420249	CCDS5546.1, CCDS5547.1, CCDS55118.1, CCDS55119.1	7q11.23	2010-04-08	2009-11-23	2005-01-14	ENSG00000130305	ENSG00000130305		"NOP2/Sun domain containing"	16385	protein-coding gene	gene with protein product	"NOP2/Sun domain family, member 5A"	615732	"Williams Beuren syndrome chromosome region 20A", "NOL1/NOP2/Sun domain family, member 5"	WBSCR20, WBSCR20A		11978965, 12073013	Standard	NM_148956		Approved	NOL1R, p120, (NOL1), FLJ10267, NSUN5A, Ynl022cL	uc011kev.2	Q96P11	OTTHUMG00000129869	ENST00000252594.6:c.669C>T	7.37:g.72718830G>A						NSUN5_ENST00000438747.2_Silent_p.D223D|NSUN5_ENST00000252594.6_Silent_p.D223D|NSUN5_ENST00000310326.8_Silent_p.D223D	p.D185D	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN			6	568	-		Lung NSC(55;0.163)	223					B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	Silent	SNP	ENST00000252594.6	37	c.555C>T	CCDS5547.1																																																																																				0.617	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252113.1	NM_148956		3	52	0	0	0	1	0	3	52					A	72718830	G	A	72718830	2	1	229	1	0	0	0	0	0	0	0	1	10681	1252	44	2		2	NSUN5	7	72718830	Silent	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08	45147956	72718830	86419833	18	4845											
C7orf51	222950	broad.mit.edu	37	chr7	100086968	100086968	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagccttccggacccaactGtaggccccctgaccccgctg	9	19	0	1			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr7:100086968G>T	ENST00000300179.2	+	4	1783	c.1624G>T	c.(1624-1626)Gta>Tta	p.V542L	NYAP1_ENST00000423930.1_Missense_Mutation_p.V542L|NYAP1_ENST00000454988.1_Missense_Mutation_p.V485L	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	542					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GGACCCAACTGTAGGCCCCCT	0.687																																						ENST00000423930.1																			0											c.(1624-1626)Gta>Tta		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1							12	15	14					7																	100086968		2194	4284	6478	SO:0001583	missense	222950							g.chr7:100086968G>T	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"chromosome 7 open reading frame 51", "KIAA1486-like"	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.1624G>T	7.37:g.100086968G>T	ENSP00000300179:p.Val542Leu					NYAP1_ENST00000300179.2_Missense_Mutation_p.V542L|NYAP1_ENST00000454988.1_Missense_Mutation_p.V485L	p.V542L			Q6ZVC0	CG051_HUMAN			4	1783	+			542					Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	ENST00000300179.2	37	c.1624G>T	CCDS5696.1	.	.	.	.	.	.	.	.	.	.	G	8.684	0.905728	0.17760	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.30448	1.53;1.53;1.54	5.35	2.11	0.27256	.	0.705502	0.12808	N	0.437434	T	0.16300	0.0392	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21793	-1.0235	10	0.59425	D	0.04	0.3797	9.6606	0.39952	0.2761:0.0:0.7239:0.0	.	485;542	C9JS30;Q6ZVC0	.;CG051_HUMAN	L	542;542;485	ENSP00000300179:V542L;ENSP00000411861:V542L;ENSP00000394424:V485L	ENSP00000300179:V542L	V	+	1	0	C7orf51	99924904	0.001000	0.12720	0.716000	0.30569	0.722000	0.41435	0.130000	0.15850	0.650000	0.30769	0.561000	0.74099	GTA		0.687	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564		12	13	1	0	1.15919e-05	1	1.18192e-05	12	13					T	100086968	G	T	100086968	3	4	229	1	0	0	0	0	1	0	0	0	2400	1377	48	4	1634	4	C7orf51	7	100086968	Missense_Mutation	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08	27368138	100086968	59051695	19	4846											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		25	44	0	0	0	1	0	25	44					T	140453136	A	T	140453136	3	4	229	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3MX-01A-11D-A21A-08	40366168	140453136	18685527	20	4847											
FER1L6	654463	broad.mit.edu	37	chr8	124992869	124992869	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggaaatcctctcaggacggGcacaggaatctaaattttcc	9	10	2	0			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr8:124992869G>T	ENST00000522917.1	+	11	1434	c.1228G>T	c.(1228-1230)Gca>Tca	p.A410S	FER1L6_ENST00000399018.1_Missense_Mutation_p.A410S	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	410						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTCAGGACGGGCACAGGAATC	0.468											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(1228-1230)Gca>Tca		fer-1-like 6 (C. elegans)							118	121	120					8																	124992869		1878	4105	5983	SO:0001583	missense	654463					integral to membrane		g.chr8:124992869G>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.1228G>T	8.37:g.124992869G>T	ENSP00000428280:p.Ala410Ser		OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1538	FER1L6_ENST00000399018.1_Missense_Mutation_p.A410S	p.A410S	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		11	1434	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		410						Missense_Mutation	SNP	ENST00000522917.1	37	c.1228G>T	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	6.654	0.489224	0.12641	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.81499	-1.5;-1.5	5.53	3.63	0.41609	.	1.265550	0.06236	U	0.689554	T	0.67878	0.2940	N	0.20401	0.57	0.39687	D	0.970988	B	0.17268	0.021	B	0.11329	0.006	T	0.49331	-0.8951	10	0.10377	T	0.69	.	10.3075	0.43689	0.0701:0.0:0.7956:0.1343	.	410	Q2WGJ9	FR1L6_HUMAN	S	410	ENSP00000428280:A410S;ENSP00000381982:A410S	ENSP00000381982:A410S	A	+	1	0	FER1L6	125062050	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	1.900000	0.39828	1.346000	0.45694	0.655000	0.94253	GCA		0.468	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		18	107	1	0	7.41877e-09	1	7.71552e-09	18	107					T	124992869	G	T	124992869	3	4	229	1	0	0	0	0	1	0	0	0	5815	1203	42	4	1266	4	FER1L6	8	124992869	Missense_Mutation	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08		124992869	21371153	21	4848											
RECK	8434	broad.mit.edu	37	chr9	36118962	36118962	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atgcaaacccatcatcccacCgggtaggctggcagtatcgg	11	13	1	0			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr9:36118962C>G	ENST00000377966.3	+	18	3028	c.2462C>G	c.(2461-2463)cCg>cGg	p.P821R		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	821					blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			ATCATCCCACCGGGTAGGCTG	0.557																																						ENST00000377966.3																			0				cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32						c.(2461-2463)cCg>cGg		reversion-inducing-cysteine-rich protein with kazal motifs							64	61	62					9																	36118962		2203	4300	6503	SO:0001583	missense	8434					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	g.chr9:36118962C>G	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.2462C>G	9.37:g.36118962C>G	ENSP00000367202:p.Pro821Arg						p.P821R	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)		18	3028	+			821					B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	ENST00000377966.3	37	c.2462C>G	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238139	0.79800	.	.	ENSG00000122707	ENST00000377966	T	0.53640	0.61	5.52	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.65165	0.2665	M	0.64567	1.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.984	T	0.69030	-0.5253	10	0.72032	D	0.01	-6.7416	14.5557	0.68100	0.0:0.8527:0.1473:0.0	.	821;821	A8K9D8;O95980	.;RECK_HUMAN	R	821	ENSP00000367202:P821R	ENSP00000367202:P821R	P	+	2	0	RECK	36108962	1.000000	0.71417	0.787000	0.31911	0.856000	0.48823	7.354000	0.79424	1.460000	0.47911	0.655000	0.94253	CCG		0.557	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			7	148	0	0	0	1	0	7	148					G	36118962	C	G	36118962	3	3	229	1	0	0	0	0	1	0	0	0	13200	652	23	4	2532	4	RECK	9	36118962	Missense_Mutation	SNP	C	TCGA-EL-A3MX-01A-11D-A21A-08		36118962	105094469	22	4849											
DHX32	55760	broad.mit.edu	37	chr10	127548295	127548295	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaaggtacacaacctccacAgggtgtttatttttcacttc	6	11	1	0			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr10:127548295A>G	ENST00000284690.3	-	3	1216	c.726T>C	c.(724-726)ccT>ccC	p.P242P	DHX32_ENST00000284688.6_Silent_p.P242P	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	242						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CAACCTCCACAGGGTGTTTAT	0.403																																						ENST00000284690.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29						c.(724-726)ccT>ccC		DEAH (Asp-Glu-Ala-His) box polypeptide 32							124	129	127					10																	127548295		2203	4300	6503	SO:0001819	synonymous_variant	55760					mitochondrion|nucleus	ATP binding|helicase activity	g.chr10:127548295A>G		CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"DEAH-boxes"	16717	protein-coding gene	gene with protein product		607960	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.726T>C	10.37:g.127548295A>G						DHX32_ENST00000284688.6_Silent_p.P242P	p.P242P	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN			3	1216	-		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	242					A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Silent	SNP	ENST00000284690.3	37	c.726T>C	CCDS7652.1																																																																																				0.403	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	NM_018180		18	91	0	0	0	1	0	18	91					G	127548295	A	G	127548295	2	3	229	1	0	0	0	0	0	0	0	1	4505	175	7	3		3	DHX32	10	127548295	Silent	SNP	A	TCGA-EL-A3MX-01A-11D-A21A-08		127548295	7986452	23	4850											
E2F8	79733	broad.mit.edu	37	chr11	19246838	19246838	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgggactggtgagtcatagTtggtggcccttccttgctga	14	9	1	2			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr11:19246838T>A	ENST00000527884.1	-	12	2583	c.2351A>T	c.(2350-2352)aAc>aTc	p.N784I	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.N784I|E2F8_ENST00000529188.1_5'Flank	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	784					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGAGTCATAGTTGGTGGCCCT	0.498																																						ENST00000527884.1																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2350-2352)aAc>aTc		E2F transcription factor 8							133	134	134					11																	19246838		2199	4293	6492	SO:0001583	missense	79733				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:19246838T>A		CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.2351A>T	11.37:g.19246838T>A	ENSP00000434199:p.Asn784Ile					E2F8_ENST00000250024.4_Missense_Mutation_p.N784I|RP11-428C19.4_ENST00000527978.1_RNA	p.N784I	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN			12	2583	-			784					A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	ENST00000527884.1	37	c.2351A>T	CCDS7849.1	.	.	.	.	.	.	.	.	.	.	T	4.666	0.123805	0.08931	.	.	ENSG00000129173	ENST00000527884;ENST00000396159;ENST00000250024	T;T	0.17528	2.27;2.27	5.26	-6.84	0.01687	.	1.184280	0.05766	N	0.605871	T	0.06690	0.0171	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41893	-0.9483	10	0.49607	T	0.09	3.46	7.9324	0.29909	0.2088:0.133:0.0:0.6582	.	784	A0AVK6	E2F8_HUMAN	I	784	ENSP00000434199:N784I;ENSP00000250024:N784I	ENSP00000250024:N784I	N	-	2	0	E2F8	19203414	0.000000	0.05858	0.000000	0.03702	0.353000	0.29299	-0.305000	0.08188	-1.221000	0.02591	0.482000	0.46254	AAC		0.498	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680		17	129	0	0	0	1	0	17	129					A	19246838	T	A	19246838	3	1	229	1	0	0	0	0	1	0	0	0	4873	1725	60	5	260	5	E2F8	11	19246838	Missense_Mutation	SNP	T	TCGA-EL-A3MX-01A-11D-A21A-08		19246838	115759678	24	4851											
MARK2	2011	broad.mit.edu	37	chr11	63672399	63672399	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcagctccgacaggtgcgGgaccagcagaatttgcccta	14	12	0	1			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr11:63672399G>A	ENST00000509502.2	+	16	2179	c.1716G>A	c.(1714-1716)cgG>cgA	p.R572R	MARK2_ENST00000315032.8_Silent_p.R606R|MARK2_ENST00000413835.2_Silent_p.R552R|MARK2_ENST00000402010.2_Silent_p.R606R|MARK2_ENST00000425897.2_Silent_p.R526R|MARK2_ENST00000513765.2_Silent_p.R573R|MARK2_ENST00000377810.3_Silent_p.R518R|MARK2_ENST00000350490.7_Silent_p.R551R|MARK2_ENST00000502399.3_Silent_p.R605R|MARK2_ENST00000508192.1_Silent_p.R551R|MARK2_ENST00000408948.3_Silent_p.R518R|MARK2_ENST00000361128.5_Silent_p.R552R|MARK2_ENST00000377809.4_Silent_p.R606R	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						GACAGGTGCGGGACCAGCAGA	0.642																																						ENST00000402010.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1816-1818)cgG>cgA		MAP/microtubule affinity-regulating kinase 2							63	64	64					11																	63672399		2201	4297	6498	SO:0001819	synonymous_variant	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63672399G>A	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"ELKL motif kinase 1", "serine/threonine kinase", "protein-serine/threonine kinase", "Ser/Thr protein kinase PAR-1B"	600526	"ELKL motif kinase"	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.1716G>A	11.37:g.63672399G>A						MARK2_ENST00000361128.5_Silent_p.R552R|MARK2_ENST00000509502.2_Silent_p.R572R|MARK2_ENST00000377810.3_Silent_p.R518R|MARK2_ENST00000425897.2_Silent_p.R526R|MARK2_ENST00000513765.2_Silent_p.R573R|MARK2_ENST00000377809.4_Silent_p.R606R|MARK2_ENST00000502399.3_Silent_p.R605R|MARK2_ENST00000408948.3_Silent_p.R518R|MARK2_ENST00000508192.1_Silent_p.R551R|MARK2_ENST00000413835.2_Silent_p.R552R|MARK2_ENST00000350490.7_Silent_p.R551R|MARK2_ENST00000315032.8_Silent_p.R606R	p.R606R	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN			16	2397	+			606						Silent	SNP	ENST00000509502.2	37	c.1818G>A	CCDS41665.1																																																																																				0.642	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	NM_017490		4	145	0	0	0	1	0	4	145					A	63672399	G	A	63672399	2	1	229	1	0	0	0	0	0	0	0	1	9313	1219	43	2		2	MARK2	11	63672399	Silent	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08	44425561	63672399	71334117	25	4852											
AMICA1	120425	broad.mit.edu	37	chr11	118068757	118068757	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcagggtttttcttttatctCtggattagtcttcttcgtgt	9	7	4	0	rs139352792		TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr11:118068757C>G	ENST00000356289.5	-	8	1134	c.961G>C	c.(961-963)Gag>Cag	p.E321Q	AMICA1_ENST00000292067.7_Missense_Mutation_p.E311Q|AMICA1_ENST00000533261.1_Missense_Mutation_p.E310Q|AMICA1_ENST00000526620.1_Missense_Mutation_p.E282Q	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	321					blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TCTTTTATCTCTGGATTAGTC	0.438											OREG0021382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000292067.7																			0				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20						c.(931-933)Gag>Cag		adhesion molecule, interacts with CXADR antigen 1							193	175	182					11																	118068757		2199	4296	6495	SO:0001583	missense	120425				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane		g.chr11:118068757C>G	AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593		"Immunoglobulin superfamily / V-set domain containing"	19084	protein-coding gene	gene with protein product		609770				12975309	Standard	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000356289.5:c.961G>C	11.37:g.118068757C>G	ENSP00000348635:p.Glu321Gln		OREG0021382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1485	AMICA1_ENST00000526620.1_Missense_Mutation_p.E282Q|AMICA1_ENST00000356289.5_Missense_Mutation_p.E321Q|AMICA1_ENST00000533261.1_Missense_Mutation_p.E310Q	p.E311Q	NM_153206.2	NP_694938.2	Q86YT9	JAML1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	7	1372	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	321					B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Missense_Mutation	SNP	ENST00000356289.5	37	c.931G>C	CCDS41723.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.012217	0.35511	.	.	ENSG00000160593	ENST00000356289;ENST00000292067;ENST00000533261;ENST00000526620	D;D;D;D	0.98792	-4.58;-4.59;-4.58;-5.14	3.91	3.91	0.45181	.	0.147309	0.31897	N	0.006898	D	0.96197	0.8760	N	0.14661	0.345	0.20074	N	0.999934	P;B;P;P;P	0.48998	0.7;0.018;0.641;0.641;0.918	B;B;P;P;P	0.50860	0.383;0.018;0.45;0.45;0.652	D	0.91024	0.4859	10	0.26408	T	0.33	0.285	11.7151	0.51647	0.0:1.0:0.0:0.0	.	321;282;321;310;311	B4DVI6;E9PKK2;Q86YT9;E9PR26;Q86YT9-2	.;.;JAML1_HUMAN;.;.	Q	321;311;310;282	ENSP00000348635:E321Q;ENSP00000292067:E311Q;ENSP00000436117:E310Q;ENSP00000431218:E282Q	ENSP00000292067:E311Q	E	-	1	0	AMICA1	117573967	0.998000	0.40836	0.848000	0.33437	0.003000	0.03518	3.018000	0.49625	2.470000	0.83445	0.650000	0.86243	GAG		0.438	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392105.2	NM_153206		3	105	0	0	0	1	0	3	105					G	118068757	C	G	118068757	3	3	229	1	0	0	0	0	1	0	0	0	574	922	32	4	235	4	AMICA1	11	118068757	Missense_Mutation	SNP	C	TCGA-EL-A3MX-01A-11D-A21A-08	54396358	118068757	16937759	26	4853											
STAC3	246329	broad.mit.edu	37	chr12	57640655	57640655	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caccccagtgcgcagggtttCaaacacaggatcattgcgat	10	12	2	0			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr12:57640655C>T	ENST00000332782.2	-	6	736	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	STAC3_ENST00000554578.1_Missense_Mutation_p.E140K|STAC3_ENST00000546246.2_5'UTR	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	179					intracellular signal transduction (GO:0035556)|neuromuscular synaptic transmission (GO:0007274)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)		identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						CGCAGGGTTTCAAACACAGGA	0.507																																						ENST00000332782.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						c.(535-537)Gaa>Aaa		SH3 and cysteine rich domain 3							247	198	215					12																	57640655		2203	4300	6503	SO:0001583	missense	246329				intracellular signal transduction		identical protein binding|metal ion binding	g.chr12:57640655C>T	AK057013	CCDS8936.1, CCDS66405.1, CCDS66406.1	12q13.3	2014-08-12			ENSG00000185482	ENSG00000185482			28423	protein-coding gene	gene with protein product		615521				12477932	Standard	NM_001286257		Approved	MGC2793	uc009zpl.2	Q96MF2	OTTHUMG00000171271	ENST00000332782.2:c.535G>A	12.37:g.57640655C>T	ENSP00000329200:p.Glu179Lys					STAC3_ENST00000554578.1_Missense_Mutation_p.E140K|STAC3_ENST00000546246.2_5'UTR	p.E179K	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN			6	736	-			179					B4DUK9|Q96HU5	Missense_Mutation	SNP	ENST00000332782.2	37	c.535G>A	CCDS8936.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338384	0.81911	.	.	ENSG00000185482	ENST00000554578;ENST00000332782	D;D	0.83419	-1.68;-1.72	4.74	4.74	0.60224	.	0.110120	0.64402	D	0.000014	T	0.76111	0.3942	L	0.47190	1.495	0.80722	D	1	P	0.37781	0.608	B	0.26864	0.074	T	0.78565	-0.2155	10	0.45353	T	0.12	-0.3612	17.3708	0.87377	0.0:1.0:0.0:0.0	.	179	Q96MF2	STAC3_HUMAN	K	140;179	ENSP00000452068:E140K;ENSP00000329200:E179K	ENSP00000329200:E179K	E	-	1	0	STAC3	55926922	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.961000	0.76042	2.573000	0.86826	0.655000	0.94253	GAA		0.507	STAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412724.2	NM_145064		12	230	0	0	0	1	0	12	230					T	57640655	C	T	57640655	3	4	229	1	0	0	0	0	1	0	0	0	15240	835	29	2	587	2	STAC3	12	57640655	Missense_Mutation	SNP	C	TCGA-EL-A3MX-01A-11D-A21A-08		57640655	76211240	27	4854											
TEP1	7011	broad.mit.edu	37	chr14	20859812	20859812	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gcattagcatctgtcagataGaccaagacagtgcggcctgg	12	10	2	3			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr14:20859812G>C	ENST00000262715.5	-	13	2083	c.2043C>G	c.(2041-2043)gtC>gtG	p.V681V	TEP1_ENST00000556935.1_Silent_p.V573V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	681					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)		CTGTCAGATAGACCAAGACAG	0.532																																						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.(2041-2043)gtC>gtG		telomerase-associated protein 1							154	135	141					14																	20859812		2203	4300	6503	SO:0001819	synonymous_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20859812G>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.2043C>G	14.37:g.20859812G>C						TEP1_ENST00000556935.1_Silent_p.V573V	p.V681V	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)	13	2083	-	all_cancers(95;0.00123)	all_lung(585;0.235)	681					A0AUV9	Silent	SNP	ENST00000262715.5	37	c.2043C>G	CCDS9548.1																																																																																				0.532	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		22	184	0	0	0	1	0	22	184					C	20859812	G	C	20859812	2	2	229	1	0	0	0	0	0	0	0	1	15756	929	33	4		4	TEP1	14	20859812	Silent	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08		20859812	86489728	28	4855											
FANCM	57697	broad.mit.edu	37	chr14	45656993	45656993	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttacacagattctgaaaTgagagctatttacatgaaat	6	6	2	4			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr14:45656993T>C	ENST00000267430.5	+	19	4767	c.4682T>C	c.(4681-4683)aTg>aCg	p.M1561T	FANCM_ENST00000555013.1_3'UTR|FANCM_ENST00000542564.2_Missense_Mutation_p.M1535T	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1561					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GATTCTGAAATGAGAGCTATT	0.254								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(4681-4683)aTg>aCg	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							45	44	44					14																	45656993		2202	4295	6497	SO:0001583	missense	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45656993T>C	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.4682T>C	14.37:g.45656993T>C	ENSP00000267430:p.Met1561Thr					FANCM_ENST00000555013.1_3'UTR|FANCM_ENST00000542564.2_Missense_Mutation_p.M1535T	p.M1561T	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			19	4767	+			1561					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.4682T>C	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	T	18.45	3.626408	0.66901	.	.	ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250	T;T;T	0.78003	-1.14;-1.14;-1.14	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.86772	0.6013	M	0.73962	2.25	0.43381	D	0.99548	D;D	0.76494	0.999;0.998	D;D	0.78314	0.991;0.977	D	0.87007	0.2120	10	0.45353	T	0.12	.	13.9376	0.64034	0.0:0.0:0.0:1.0	.	1535;1561	B2RTQ9;Q8IYD8	.;FANCM_HUMAN	T	1561;1535;1077	ENSP00000267430:M1561T;ENSP00000442493:M1535T;ENSP00000452033:M1077T	ENSP00000267430:M1561T	M	+	2	0	FANCM	44726743	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.658000	0.68003	1.980000	0.57719	0.533000	0.62120	ATG		0.254	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		14	8	0	0	0	1	0	14	8					C	45656993	T	C	45656993	3	2	229	1	0	0	0	0	1	0	0	0	5671	1464	51	3	4756	3	FANCM	14	45656993	Missense_Mutation	SNP	T	TCGA-EL-A3MX-01A-11D-A21A-08	24797181	45656993	61692547	29	4856											
HSP90AA1	3320	broad.mit.edu	37	chr14	102549628	102549628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggctgagttagctacctggtCcttggtctcacctgaggtat	12	10	1	2			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr14:102549628C>T	ENST00000216281.8	-	9	1703	c.1498G>A	c.(1498-1500)Gac>Aac	p.D500N	HSP90AA1_ENST00000441629.2_Missense_Mutation_p.D321N|HSP90AA1_ENST00000334701.7_Missense_Mutation_p.D622N	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	500					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	GCTACCTGGTCCTTGGTCTCA	0.418																																						ENST00000334701.7																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28						c.(1864-1866)Gac>Aac		heat shock protein 90kDa alpha (cytosolic), class A member 1	Rifabutin(DB00615)						114	110	112					14																	102549628		2203	4300	6503	SO:0001583	missense	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102549628C>T	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"Heat shock proteins / HSPC"	5253	protein-coding gene	gene with protein product		140571	"heat shock 90kD protein 1, alpha", "heat shock 90kDa protein 1, alpha"	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.1498G>A	14.37:g.102549628C>T	ENSP00000216281:p.Asp500Asn					HSP90AA1_ENST00000441629.2_Missense_Mutation_p.D321N|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.D500N	p.D622N	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN			10	2145	-			500					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	c.1864G>A	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	c	33	5.199221	0.94997	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000441629	T;T;T	0.09911	2.93;2.93;2.93	4.44	4.44	0.53790	Ribosomal protein S5 domain 2-type fold (1);	0.180292	0.46145	U	0.000305	T	0.28034	0.0691	M	0.67569	2.06	0.80722	D	1	P;D;P	0.58620	0.528;0.983;0.941	P;P;P	0.58520	0.548;0.84;0.811	T	0.02966	-1.1088	10	0.54805	T	0.06	-40.3149	17.4478	0.87583	0.0:1.0:0.0:0.0	.	321;622;500	Q86U12;P07900-2;P07900	.;.;HS90A_HUMAN	N	500;622;321	ENSP00000216281:D500N;ENSP00000335153:D622N;ENSP00000396189:D321N	ENSP00000216281:D500N	D	-	1	0	HSP90AA1	101619381	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.565000	0.82337	2.192000	0.70111	0.655000	0.94253	GAC		0.418	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		6	77	0	0	0	1	0	6	77					T	102549628	C	T	102549628	3	4	229	1	0	0	0	0	1	0	0	0	7401	855	30	2	712	2	HSP90AA1	14	102549628	Missense_Mutation	SNP	C	TCGA-EL-A3MX-01A-11D-A21A-08	56892635	102549628	4799912	30	4857											
AHNAK2	113146	broad.mit.edu	37	chr14	105421471	105421471	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacacggttgtactgagcagCtgatcccctagaccaagaaa	9	11	0	4			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr14:105421471C>T	ENST00000333244.5	-	6	593	c.474G>A	c.(472-474)caG>caA	p.Q158Q	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	158	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					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)			TACTGAGCAGCTGATCCCCTA	0.502																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(472-474)caG>caA		AHNAK nucleoprotein 2							50	53	52					14																	105421471		1901	4110	6011	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105421471C>T	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.474G>A	14.37:g.105421471C>T							p.Q158Q	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)		6	593	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	158			PDZ.		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.474G>A	CCDS45177.1																																																																																				0.502	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		4	81	0	0	0	1	0	4	81					T	105421471	C	T	105421471	2	4	229	1	0	0	0	0	0	0	0	1	415	796	28	2		2	AHNAK2	14	105421471	Silent	SNP	C	TCGA-EL-A3MX-01A-11D-A21A-08	2871843	105421471	1928069	31	4858											
RPUSD1	113000	broad.mit.edu	37	chr16	837116	837116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catggtgtgggcccggccctCcgtgctgttcctgccaatgg	14	14	0	0	rs2272898	byFrequency	TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr16:837116C>T	ENST00000561734.1	-	3	613	c.370G>A	c.(370-372)Gag>Aag	p.E124K	CHTF18_ENST00000317063.6_5'Flank|RPUSD1_ENST00000007264.2_Missense_Mutation_p.E124K|RPUSD1_ENST00000565809.1_Intron|CHTF18_ENST00000455171.2_5'Flank|RPUSD1_ENST00000567114.1_5'UTR|CHTF18_ENST00000262315.9_5'Flank			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	124			E -> Q (in dbSNP:rs2272898).		pseudouridine synthesis (GO:0001522)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				GCCCGGCCCTCCGTGCTGTTC	0.692																																						ENST00000561734.1																			0				endometrium(3)|lung(2)|skin(2)	7						c.(370-372)Gag>Aag		RNA pseudouridylate synthase domain containing 1							43	41	42					16																	837116		2185	4299	6484	SO:0001583	missense	113000				pseudouridine synthesis		pseudouridine synthase activity|RNA binding	g.chr16:837116C>T	AE006465	CCDS10426.1	16p13.3	2013-02-11	2005-01-31	2005-01-31	ENSG00000007376	ENSG00000007376		"RNA pseudouridylate synthase domain containing"	14173	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 40"	C16orf40			Standard	NM_058192		Approved	RLUCL, MGC19600	uc002ckb.3	Q9UJJ7	OTTHUMG00000047840	ENST00000561734.1:c.370G>A	16.37:g.837116C>T	ENSP00000455026:p.Glu124Lys					RPUSD1_ENST00000007264.2_Missense_Mutation_p.E124K|RPUSD1_ENST00000565809.1_Intron|RPUSD1_ENST00000567114.1_5'UTR	p.E124K			Q9UJJ7	RUSD1_HUMAN			3	613	-		Hepatocellular(780;0.00335)	124		E -> Q (in dbSNP:rs2272898).			D3DU66	Missense_Mutation	SNP	ENST00000561734.1	37	c.370G>A	CCDS10426.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.225172	0.58668	.	.	ENSG00000007376	ENST00000007264	T	0.21031	2.03	4.4	4.4	0.53042	Pseudouridine synthase, RsuA and RluB/C/D/E/F (1);Pseudouridine synthase, catalytic domain (1);	0.101193	0.64402	D	0.000003	T	0.25158	0.0611	L	0.39245	1.2	0.80722	D	1	P	0.37423	0.594	B	0.43052	0.406	T	0.05954	-1.0854	10	0.62326	D	0.03	-24.6569	15.6996	0.77533	0.0:1.0:0.0:0.0	.	124	Q9UJJ7	RUSD1_HUMAN	K	124	ENSP00000007264:E124K	ENSP00000007264:E124K	E	-	1	0	RPUSD1	777117	1.000000	0.71417	0.520000	0.27837	0.749000	0.42624	6.911000	0.75746	2.277000	0.76020	0.549000	0.68633	GAG		0.692	RPUSD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420620.1	NM_058192		4	55	0	0	0	1	0	4	55					T	837116	C	T	837116	3	4	229	1	0	0	0	0	1	0	0	0	13666	864	30	2	580	2	RPUSD1	16	837116	Missense_Mutation	SNP	C	TCGA-EL-A3MX-01A-11D-A21A-08		837116	89517637	32	4859											
OGFOD1	55239	broad.mit.edu	37	chr16	56501895	56501895	+	Frame_Shift_Del	DEL	G	G	-													aaattcaagaagagtttgaaGaaagttctgaaattctcctg							TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr16:56501895delG	ENST00000566157.1	+	8	988	c.865delG	c.(865-867)gaafs	p.E289fs	OGFOD1_ENST00000568397.1_Frame_Shift_Del_p.E246fs	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	289					cell proliferation (GO:0008283)|peptidyl-proline hydroxylation (GO:0019511)|protein hydroxylation (GO:0018126)|regulation of translational termination (GO:0006449)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 3-dioxygenase activity (GO:0031544)|peptidyl-proline dioxygenase activity (GO:0031543)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	AGAGTTTGAAGAAAGTTCTGA	0.383																																						ENST00000566157.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(865-867)aafs		2-oxoglutarate and iron-dependent oxygenase domain containing 1	Vitamin C(DB00126)						75	73	74					16																	56501895		2198	4300	6498	SO:0001589	frameshift_variant	55239						iron ion 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	g.chr16:56501895delG	BC032919	CCDS10761.2	16q12.2	2010-11-23			ENSG00000087263	ENSG00000087263			25585	protein-coding gene	gene with protein product	"TPA1, termination and polyadenylation 1, homolog (S. cerevisiae)"	615857				10997877	Standard	NM_018233		Approved	KIAA1612, FLJ10826, TPA1	uc002ejb.3	Q8N543	OTTHUMG00000133237	ENST00000566157.1:c.865delG	16.37:g.56501895delG	ENSP00000457258:p.Glu289fs					OGFOD1_ENST00000568397.1_Frame_Shift_Del_p.E246fs	p.E289fs	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN			8	988	+			289					H3BUQ2|Q9H7U5|Q9H9J9|Q9HA87|Q9HCG0|Q9NVB6	Frame_Shift_Del	DEL	ENST00000566157.1	37	c.865delG	CCDS10761.2																																																																																				0.383	OGFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256976.3	NM_018233		7	45						7	45	---	---	---	---	-	56501895	G	-	56501895	7	5	229	1	0	1	0	1	0	0	0	0	10841	943	33	0	895	0	OGFOD1	16	56501895	Frame_Shift_Del	DEL	G	TCGA-EL-A3MX-01A-11D-A21A-08	55664779	56501895	33852858	33	4860											
ZFHX3	463	broad.mit.edu	37	chr16	72831862	72831863	+	Frame_Shift_Ins	INS	-	-	A													attcttgaagggctctctttINSaacttatgcaggtgggagac							TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr16:72831862_72831863insA	ENST00000268489.5	-	9	5390_5391	c.4718_4719insT	c.(4717-4719)ttafs	p.L1573fs	ZFHX3_ENST00000397992.5_Frame_Shift_Ins_p.L659fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1573					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)				GGGCTCTCTTTAACTTATGCAG	0.47																																						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.(4717-4719)taafs		zinc finger homeobox 3																																				SO:0001589	frameshift_variant	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.chr16:72831862_72831863insA	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.4719dupT	16.37:g.72831864_72831864dupA	ENSP00000268489:p.Leu1573fs					ZFHX3_ENST00000397992.5_Frame_Shift_Ins_p.*659fs	p.*1573fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	5390_5391	-		Ovarian(137;0.13)	1573					D3DWS8|O15101|Q13719	Frame_Shift_Ins	INS	ENST00000268489.5	37	c.4718_4719insT	CCDS10908.1																																																																																				0.47	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		8	77						8	77	---	---	---	---	A	72831863	-	A	72831862	7	5	229	1	0	1	1	0	0	0	0	0	17631	1751	61	0	6400	0	ZFHX3	16	72831862	Frame_Shift_Ins	INS	-	TCGA-EL-A3MX-01A-11D-A21A-08	16329967	72831862	17522891	34	4861											
DPH1	1801	broad.mit.edu	37	chr17	1943643	1943643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattctgggcactttgggccGccagggcagtcctaagatcc	12	12	1	1	rs201983229		TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr17:1943643G>A	ENST00000263083.6	+	8	941	c.896G>A	c.(895-897)cGc>cAc	p.R299H	DPH1_ENST00000570477.1_Missense_Mutation_p.R219H|RP11-667K14.4_ENST00000572404.1_RNA|OVCA2_ENST00000572195.1_5'Flank	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	299					cell proliferation (GO:0008283)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						ACTTTGGGCCGCCAGGGCAGT	0.602																																						ENST00000263083.6																			0				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						c.(895-897)cGc>cAc		diphthamide biosynthesis 1		G	HIS/ARG	2,3900		0,2,1949	49	50	49		896	5.1	1.0	17		49	0,8312		0,0,4156	yes	missense	DPH1	NM_001383.3	29	0,2,6105	AA,AG,GG		0.0,0.0513,0.0164	probably-damaging	299/444	1943643	2,12212	1951	4156	6107	SO:0001583	missense	1801				peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus		g.chr17:1943643G>A	S81752	CCDS42228.1	17p13.3	2013-05-02	2013-05-02	2005-06-03	ENSG00000108963	ENSG00000108963			3003	protein-coding gene	gene with protein product	"ovarian tumor suppressor candidate 1"	603527	"diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae)", "DPH-like 1 (S. cerevisiae)", "DPH1 homolog (S. cerevisiae)"	DPH2L, DPH2L1		8603384, 15485916, 22869748	Standard	NM_001383		Approved	OVCA1	uc002fts.3	Q9BZG8	OTTHUMG00000177724	ENST00000263083.6:c.896G>A	17.37:g.1943643G>A	ENSP00000263083:p.Arg299His					DPH1_ENST00000570477.1_Missense_Mutation_p.R219H	p.R299H	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN			8	941	+			299					D3DTI3|Q16439|Q4VBA2|Q9BTW7|Q9UCY0	Missense_Mutation	SNP	ENST00000263083.6	37	c.896G>A	CCDS42228.1	.	.	.	.	.	.	.	.	.	.	G	32	5.139864	0.94560	5.13E-4	0.0	ENSG00000108963	ENST00000263083	T	0.50548	0.74	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.71476	0.3344	M	0.89785	3.06	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.992	P;P;P	0.58928	0.848;0.848;0.848	T	0.79160	-0.1918	10	0.72032	D	0.01	-16.2111	17.1373	0.86743	0.0:0.0:1.0:0.0	.	309;309;299	E7ENH3;B4DNK0;Q9BZG8	.;.;DPH1_HUMAN	H	299	ENSP00000263083:R299H	ENSP00000263083:R299H	R	+	2	0	DPH1	1890393	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.384000	0.79751	2.380000	0.81148	0.491000	0.48974	CGC		0.602	DPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438660.1	NM_001383		14	61	0	0	0	1	0	14	61					A	1943643	G	A	1943643	3	1	229	1	0	0	0	0	1	0	0	0	4719	1087	38	1	926	1	DPH1	17	1943643	Missense_Mutation	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08		1943643	79251567	35	4862											
ATAD5	79915	broad.mit.edu	37	chr17	29196274	29196274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataatttttcagatttctcgGgtggcatagactttaaaggc	9	6	2	2			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr17:29196274G>A	ENST00000321990.4	+	13	3700	c.3322G>A	c.(3322-3324)Ggt>Agt	p.G1108S		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1108					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AGATTTCTCGGGTGGCATAGA	0.393																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(3322-3324)Ggt>Agt		ATPase family, AAA domain containing 5							100	97	98					17																	29196274		2203	4300	6503	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29196274G>A		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"ATPases / AAA-type"	25752	protein-coding gene	gene with protein product	"enhanced level of genomic instability 1 homolog (S. cerevisiae)"	609534	"chromosome 17 open reading frame 41"	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.3322G>A	17.37:g.29196274G>A	ENSP00000313171:p.Gly1108Ser						p.G1108S	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN			13	3700	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	1108					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.3322G>A	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	G	5.505	0.278123	0.10403	.	.	ENSG00000176208	ENST00000321990	T	0.05786	3.39	5.62	3.43	0.39272	.	1.719510	0.03447	N	0.210105	T	0.04724	0.0128	N	0.08118	0	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.10450	0.005;0.004	T	0.33445	-0.9868	10	0.20046	T	0.44	.	10.0674	0.42313	0.1376:0.0:0.7407:0.1217	.	1108;1108	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	S	1108	ENSP00000313171:G1108S	ENSP00000313171:G1108S	G	+	1	0	ATAD5	26220400	0.612000	0.27000	0.003000	0.11579	0.067000	0.16453	3.316000	0.51960	1.363000	0.46019	0.591000	0.81541	GGT		0.393	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		8	49	0	0	0	1	0	8	49					A	29196274	G	A	29196274	3	1	229	1	0	0	0	0	1	0	0	0	1076	1232	43	2	3372	2	ATAD5	17	29196274	Missense_Mutation	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08	27252631	29196274	51998936	36	4863											
ZNF554	115196	broad.mit.edu	37	chr19	2827692	2827692	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggagcctgctcagaagaaCctgtacagagaggtgatgct	13	9	1	4			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr19:2827692C>T	ENST00000317243.5	+	3	402	c.204C>T	c.(202-204)aaC>aaT	p.N68N	ZNF554_ENST00000591265.1_Silent_p.N68N	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	68	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)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		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)		CTCAGAAGAACCTGTACAGAG	0.483																																						ENST00000317243.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(202-204)aaC>aaT		zinc finger protein 554							95	107	103					19																	2827692		2202	4300	6502	SO:0001819	synonymous_variant	115196				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2827692C>T	AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006		"Zinc fingers, C2H2-type", "-"	26629	protein-coding gene	gene with protein product						12477932	Standard	NM_001102651		Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.204C>T	19.37:g.2827692C>T						ZNF554_ENST00000591265.1_Silent_p.N68N	p.N68N	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_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)	3	402	+		Hepatocellular(1079;0.137)	68			KRAB.		Q8NAT3|Q9BWN3	Silent	SNP	ENST00000317243.5	37	c.204C>T	CCDS42462.1																																																																																				0.483	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451598.3	NM_152303		14	50	0	0	0	1	0	14	50					T	2827692	C	T	2827692	2	4	229	1	0	0	0	0	0	0	0	1	17982	506	18	2		2	ZNF554	19	2827692	Silent	SNP	C	TCGA-EL-A3MX-01A-11D-A21A-08		2827692	56301291	37	4864											
ZNF709	163051	broad.mit.edu	37	chr19	12577553	12577553	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttacctatagaggccaagtTaacaaaggtttcttgcatca	7	9	2	1			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr19:12577553T>C	ENST00000397732.3	-	2	286	c.115A>G	c.(115-117)Aac>Gac	p.N39D	ZNF709_ENST00000428311.1_Missense_Mutation_p.N39D|CTD-3105H18.18_ENST00000598753.1_Missense_Mutation_p.N39D	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	39	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)			large_intestine(3)|upper_aerodigestive_tract(3)	6						GAGGCCAAGTTAACAAAGGTT	0.428																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(115-117)Aac>Gac		zinc finger protein 709							94	95	95					19																	12577553		2200	4297	6497	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12577553T>C	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"Zinc fingers, C2H2-type", "-"	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.115A>G	19.37:g.12577553T>C	ENSP00000380840:p.Asn39Asp					CTD-3105H18.18_ENST00000598753.1_Missense_Mutation_p.N39D|ZNF709_ENST00000428311.1_Missense_Mutation_p.N39D	p.N39D	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			2	286	-			39			KRAB.		A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.115A>G	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	T	19.41	3.821814	0.71028	.	.	ENSG00000242852;ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000455490;ENST00000428311	T;T;T	0.02345	4.33;4.33;4.33	3.19	2.13	0.27403	Krueppel-associated box (4);	0.000000	0.38778	N	0.001565	T	0.17280	0.0415	M	0.93854	3.465	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.03443	-1.1036	10	0.66056	D	0.02	.	7.6922	0.28575	0.0:0.0:0.2146:0.7853	.	39	Q8N972	ZN709_HUMAN	D	39;68;39	ENSP00000380840:N39D;ENSP00000398085:N68D;ENSP00000404127:N39D	ENSP00000404127:N39D	N	-	1	0	ZNF709;CTD-2192J16.17	12438553	0.002000	0.14202	0.034000	0.17996	0.932000	0.56968	1.092000	0.30927	0.582000	0.29556	0.402000	0.26972	AAC		0.428	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		5	45	0	0	0	1	0	5	45					C	12577553	T	C	12577553	3	2	229	1	0	0	0	0	1	0	0	0	18110	1754	61	3	1822	3	ZNF709	19	12577553	Missense_Mutation	SNP	T	TCGA-EL-A3MX-01A-11D-A21A-08	9749861	12577553	46551430	38	4865											
C19orf57	79173	broad.mit.edu	37	chr19	14003691	14003691	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaactggggaacaaaccTcccgaatgagttctgtaaac	9	10	1	1			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr19:14003691T>C	ENST00000586783.1	-	4	300	c.301A>G	c.(301-303)Agg>Ggg	p.R101G	C19orf57_ENST00000346736.2_Missense_Mutation_p.R101G|C19orf57_ENST00000454313.1_Missense_Mutation_p.R101G|C19orf57_ENST00000591586.1_Missense_Mutation_p.R101G			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	101					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGAACAAACCTCCCGAATGAG	0.458																																						ENST00000454313.1																			0				breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(301-303)Agg>Ggg		chromosome 19 open reading frame 57							102	95	97					19																	14003691		2203	4300	6503	SO:0001583	missense	79173				multicellular organismal development		protein binding	g.chr19:14003691T>C	BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.301A>G	19.37:g.14003691T>C	ENSP00000465822:p.Arg101Gly					C19orf57_ENST00000591586.1_Missense_Mutation_p.R101G|C19orf57_ENST00000346736.2_Missense_Mutation_p.R101G|C19orf57_ENST00000586783.1_Missense_Mutation_p.R101G	p.R101G			Q0VDD7	CS057_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		5	359	-			101					Q13411|Q8N825|Q96D63|Q9BU49	Missense_Mutation	SNP	ENST00000586783.1	37	c.301A>G		.	.	.	.	.	.	.	.	.	.	T	15.67	2.903463	0.52333	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	T;T	0.36878	1.23;1.23	4.85	4.85	0.62838	.	0.314770	0.23265	N	0.050083	T	0.45617	0.1351	L	0.32530	0.975	0.26347	N	0.97727	D	0.71674	0.998	D	0.66979	0.948	T	0.31558	-0.9939	10	0.72032	D	0.01	-17.5688	10.9823	0.47501	0.0:0.0:0.0:1.0	.	101	Q0VDD7-2	.	G	101	ENSP00000404382:R101G;ENSP00000254336:R101G	ENSP00000254336:R101G	R	-	1	2	C19orf57	13864691	0.970000	0.33590	0.665000	0.29768	0.333000	0.28666	3.492000	0.53259	2.151000	0.67156	0.459000	0.35465	AGG		0.458	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1	NM_024323		23	29	0	0	0	1	0	23	29					C	14003691	T	C	14003691	3	2	229	1	0	0	0	0	1	0	0	0	1939	1550	54	3	1628	3	C19orf57	19	14003691	Missense_Mutation	SNP	T	TCGA-EL-A3MX-01A-11D-A21A-08	1426138	14003691	45125292	39	4866											
PSG6	5675	broad.mit.edu	37	chr19	43414761	43414761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagggtgactgggtcactgCggctggcactcactgggttc	15	11	3	1	rs9748		TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr19:43414761C>T	ENST00000292125.2	-	3	721	c.677G>A	c.(676-678)cGc>cAc	p.R226H	PSG6_ENST00000187910.2_Missense_Mutation_p.R226H|PSG6_ENST00000402603.4_Missense_Mutation_p.R226H	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	226	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TGGGTCACTGCGGCTGGCACT	0.522																																						ENST00000187910.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(676-678)cGc>cAc		pregnancy specific beta-1-glycoprotein 6							144	157	152					19																	43414761		2201	4295	6496	SO:0001583	missense	5675							g.chr19:43414761C>T		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.677G>A	19.37:g.43414761C>T	ENSP00000292125:p.Arg226His					PSG6_ENST00000292125.2_Missense_Mutation_p.R226H|PSG6_ENST00000402603.4_Missense_Mutation_p.R226H	p.R226H	NM_001031850.3	NP_001027020.1					3	742	-		Prostate(69;0.00899)						O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	c.677G>A	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	5.134	0.210346	0.09757	.	.	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125;ENST00000402456	T;T;T	0.12672	2.66;2.66;2.66	1.63	-3.26	0.05064	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.14657	0.0354	M	0.66560	2.04	0.09310	N	1	P;B;P	0.47253	0.892;0.129;0.501	B;B;B	0.42916	0.391;0.099;0.402	T	0.03354	-1.1045	9	0.52906	T	0.07	.	6.7511	0.23487	0.0:0.4202:0.0:0.5798	rs9748;rs17399468	226;226;226	Q00889;Q00889-2;B5MCE1	PSG6_HUMAN;.;.	H	226	ENSP00000187910:R226H;ENSP00000385736:R226H;ENSP00000292125:R226H	ENSP00000187910:R226H	R	-	2	0	PSG6	48106601	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.465000	0.02357	-1.490000	0.01842	-1.128000	0.01989	CGC		0.522	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		14	291	0	0	0	1	0	14	291					T	43414761	C	T	43414761	3	4	229	1	0	0	0	0	1	0	0	0	12659	768	27	1	685	1	PSG6	19	43414761	Missense_Mutation	SNP	C	TCGA-EL-A3MX-01A-11D-A21A-08	29411070	43414761	15714222	40	4867											
ZNF578	147660	broad.mit.edu	37	chr19	53014565	53014565	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatcgtagatgtcacactGgtgagaaaccttacaagtgt	10	9	1	2			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr19:53014565G>A	ENST00000421239.2	+	6	1175	c.931G>A	c.(931-933)Ggt>Agt	p.G311S	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ATGTCACACTGGTGAGAAACC	0.418																																						ENST00000421239.2																			0											c.(931-933)Ggt>Agt		zinc finger protein 578							104	107	106					19																	53014565		2203	4300	6503	SO:0001583	missense	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53014565G>A	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"Zinc fingers, C2H2-type", "-"	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.931G>A	19.37:g.53014565G>A	ENSP00000459216:p.Gly311Ser					CTD-3099C6.5_ENST00000599143.1_RNA	p.G311S	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	6	1175	+			86					B4DR51|I3L1Y6	Missense_Mutation	SNP	ENST00000421239.2	37	c.931G>A	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	16.30	3.084506	0.55861	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.37	1.37	0.22104	.	.	.	.	.	T	0.26048	0.0635	L	0.41492	1.28	0.22827	N	0.998689	P	0.37708	0.606	B	0.37833	0.259	T	0.12218	-1.0556	7	.	.	.	.	5.0884	0.14694	0.2005:0.0:0.7995:0.0	.	311	G3V4F6	.	S	311	.	.	G	+	1	0	ZNF578	57706377	0.608000	0.26966	0.249000	0.24280	0.125000	0.20455	3.734000	0.55037	0.767000	0.33267	0.297000	0.19635	GGT		0.418	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472		3	93	0	0	0	1	0	3	93					A	53014565	G	A	53014565	3	1	229	1	0	0	0	0	1	0	0	0	18007	1348	47	2	941	2	ZNF578	19	53014565	Missense_Mutation	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08	9599804	53014565	6114418	41	4868											
PRIC285	85441	broad.mit.edu	37	chr20	62198499	62198499	+	Frame_Shift_Del	DEL	C	C	-													gcggtagttctcgtggaagaCcaggcggctctgccgcgcca							TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr20:62198499delC	ENST00000467148.1	-	6	2281	c.2212delG	c.(2212-2214)gtcfs	p.V738fs	HELZ2_ENST00000479540.1_5'Flank|HELZ2_ENST00000427522.2_Frame_Shift_Del_p.V169fs	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	738	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TCGTGGAAGACCAGGCGGCTC	0.667																																						ENST00000467148.1																			0											c.(2212-2214)tcfs		helicase with zinc finger 2, transcriptional coactivator							51	52	52					20																	62198499		2202	4298	6500	SO:0001589	frameshift_variant	85441							g.chr20:62198499delC	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.2212delG	20.37:g.62198499delC	ENSP00000417401:p.Val738fs					HELZ2_ENST00000427522.2_Frame_Shift_Del_p.V169fs	p.V738fs	NM_001037335.2	NP_001032412.2					6	2281	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Frame_Shift_Del	DEL	ENST00000467148.1	37	c.2212delG	CCDS33508.1																																																																																				0.667	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		38	68						38	68	---	---	---	---	-	62198499	C	-	62198499	7	5	229	1	0	1	0	1	0	0	0	0	12485	507	18	0	5793	0	PRIC285	20	62198499	Frame_Shift_Del	DEL	C	TCGA-EL-A3MX-01A-11D-A21A-08		62198499	827021	42	4869											
TCF20	6942	broad.mit.edu	37	chr22	42610592	42610592	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggaggaggaggaggaggaGgaagcagaagactgatagtg	20	2	0	3			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr22:42610592G>A	ENST00000359486.3	-	1	856	c.720C>T	c.(718-720)tcC>tcT	p.S240S	TCF20_ENST00000335626.4_Silent_p.S240S	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	240	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						aggaggaggaggaAGCAGAAG	0.512																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(718-720)tcC>tcT		transcription factor 20 (AR1)							97	82	87					22																	42610592		2203	4300	6503	SO:0001819	synonymous_variant	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42610592G>A	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.720C>T	22.37:g.42610592G>A						TCF20_ENST00000335626.4_Silent_p.S240S	p.S240S	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	856	-			240			Ser-rich.		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	ENST00000359486.3	37	c.720C>T	CCDS14033.1																																																																																				0.512	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		3	75	0	0	0	1	0	3	75					A	42610592	G	A	42610592	2	1	229	1	0	0	0	0	0	0	0	1	15687	987	35	2		2	TCF20	22	42610592	Silent	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08		42610592	8693974	43	4870											
TUBGCP6	85378	broad.mit.edu	37	chr22	50659166	50659166	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttccaccgtggccgggTgggagccatgtctgacacag	16	11	1	1			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr22:50659166T>C	ENST00000248846.5	-	16	3726	c.3622A>G	c.(3622-3624)Acc>Gcc	p.T1208A	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_Missense_Mutation_p.T1208A			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1208	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CGTGGCCGGGTGGGAGCCATG	0.622																																						ENST00000439308.2																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(3622-3624)Acc>Gcc		tubulin, gamma complex associated protein 6							68	62	64					22																	50659166		2203	4300	6503	SO:0001583	missense	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50659166T>C	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.3622A>G	22.37:g.50659166T>C	ENSP00000248846:p.Thr1208Ala					TUBGCP6_ENST00000248846.5_Missense_Mutation_p.T1208A|TUBGCP6_ENST00000491449.1_5'UTR	p.T1208A	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	16	4114	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1208			9 X 27 AA tandem repeats.		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	c.3622A>G	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	N	0.262	-0.998869	0.02128	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.11063	3.2;2.81	4.53	-2.94	0.05581	.	3.633440	0.01029	N	0.004116	T	0.06917	0.0176	N	0.14661	0.345	0.09310	N	1	B;B;B	0.14012	0.0;0.009;0.0	B;B;B	0.17098	0.001;0.017;0.001	T	0.34054	-0.9844	10	0.23302	T	0.38	.	7.6347	0.28259	0.3123:0.4377:0.0:0.25	.	1200;1208;1208	B2RWN4;Q96RT7;Q96RT7-3	.;GCP6_HUMAN;.	A	1208	ENSP00000248846:T1208A;ENSP00000397387:T1208A	ENSP00000248846:T1208A	T	-	1	0	TUBGCP6	49001293	0.000000	0.05858	0.002000	0.10522	0.032000	0.12392	-1.348000	0.02629	-0.593000	0.05844	-0.432000	0.05891	ACC		0.622	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		4	115	0	0	0	1	0	4	115					C	50659166	T	C	50659166	3	2	229	1	0	0	0	0	1	0	0	0	16767	1696	59	3	1877	3	TUBGCP6	22	50659166	Missense_Mutation	SNP	T	TCGA-EL-A3MX-01A-11D-A21A-08	8048574	50659166	645400	44	4871											
GPR101	83550	broad.mit.edu	37	chrX	136112949	136112949	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cccctggcctctacactactCtcactggtccccgtgcttcc	6	20	2	0			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chrX:136112949C>G	ENST00000298110.1	-	1	884	c.885G>C	c.(883-885)gaG>gaC	p.E295D		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					CTACACTACTCTCACTGGTCC	0.617																																						ENST00000298110.1																			0				autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42						c.(883-885)gaG>gaC		G protein-coupled receptor 101							223	153	177					X																	136112949		2203	4300	6503	SO:0001583	missense	83550					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:136112949C>G	AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"GPCR / Class A : Orphans"	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.885G>C	X.37:g.136112949C>G	ENSP00000298110:p.Glu295Asp						p.E295D	NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN			1	884	-	Acute lymphoblastic leukemia(192;0.000127)		295					Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	c.885G>C	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	C	0.544	-0.852336	0.02651	.	.	ENSG00000165370	ENST00000298110	T	0.63255	-0.03	3.84	-0.164	0.13359	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.33059	0.0850	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.18650	-1.0330	9	0.13853	T	0.58	-4.8903	3.9819	0.09498	0.3183:0.4773:0.0:0.2043	.	295	Q96P66	GP101_HUMAN	D	295	ENSP00000298110:E295D	ENSP00000298110:E295D	E	-	3	2	GPR101	135940615	0.001000	0.12720	0.000000	0.03702	0.038000	0.13279	0.235000	0.17948	-0.169000	0.10834	0.600000	0.82982	GAG		0.617	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			30	262	0	0	0	1	0	30	262					G	136112949	C	G	136112949	3	3	229	1	0	0	0	0	1	0	0	0	6622	912	32	4	644	4	GPR101	23	136112949	Missense_Mutation	SNP	C	TCGA-EL-A3MX-01A-11D-A21A-08		136112949	19157611	45	4872											
PTCH2	8643	broad.mit.edu	37	chr1	45288194	45288194	+	Frame_Shift_Del	DEL	G	G	-													atggatgtaggcaccaggcaGggggggtgggtggatggcca							TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr1:45288194delG	ENST00000372192.3	-	22	3635	c.3505delC	c.(3505-3507)ctgfs	p.L1169fs	PTCH2_ENST00000447098.2_Intron|RNU5E-6P_ENST00000365574.1_RNA	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	1169					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GCACCAGGCAGGGGGGGTGGG	0.657									Basal Cell Nevus syndrome																													ENST00000372192.3																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50						c.(3505-3507)tgfs		patched 2							49	53	52					1																	45288194		2203	4300	6503	SO:0001589	frameshift_variant	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45288194delG	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"patched (Drosophila) homolog 2", "patched homolog 2 (Drosophila)"			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.3505delC	1.37:g.45288194delG	ENSP00000361266:p.Leu1169fs					PTCH2_ENST00000447098.2_Intron	p.L1169fs	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN			22	3635	-	Acute lymphoblastic leukemia(166;0.155)		1169					O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Frame_Shift_Del	DEL	ENST00000372192.3	37	c.3505delC	CCDS516.1																																																																																				0.657	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		7	173						7	173	---	---	---	---	-	45288194	G	-	45288194	7	5	230	1	0	1	0	1	0	0	0	0	12731	991	35	0	130	0	PTCH2	1	45288194	Frame_Shift_Del	DEL	G	TCGA-EL-A3MY-01A-11D-A21A-08		45288194	203962427	1	4873											
NBPF10	100132406	broad.mit.edu	37	chr1	145295505	145295505	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gagaagcttgcagagcagctGaagcaagctgaggagctcag	15	8	1	4	rs587623393	byFrequency	TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr1:145295505G>C	ENST00000342960.5	+	2	293	c.258G>C	c.(256-258)ctG>ctC	p.L86L	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	86						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L86L(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CAGAGCAGCTGAAGCAAGCTG	0.512													.|||	25	0.00499201	8e-04	0.0043	5008	,	,		23625	0.003		0.002	False		,,,				2504	0.0164					ENST00000342960.5																			1	Substitution - coding silent(1)	p.L86L(1)	kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(256-258)ctG>ctC		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145295505G>C	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.258G>C	1.37:g.145295505G>C						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	p.L86L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	2	293	+	all_hematologic(923;0.032)		86					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.258G>C	CCDS53355.1																																																																																				0.512	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		5	239	0	0	0	0.09319	0	5	239					C	145295505	G	C	145295505	2	2	230	1	0	0	0	0	0	0	0	1	10193	1277	45	4		4	NBPF10	1	145295505	Silent	SNP	G	TCGA-EL-A3MY-01A-11D-A21A-08	100007311	145295505	103955116	2	4874											
PGBD2	267002	broad.mit.edu	37	chr1	249211207	249211207	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagccaagagctgagtcccGtgggcctttttgagttgttt	12	8	0	3	rs367674534		TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr1:249211207G>T	ENST00000329291.5	+	3	571	c.424G>T	c.(424-426)Gtg>Ttg	p.V142L	PGBD2_ENST00000539153.1_Missense_Mutation_p.V139L|PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000355360.4_Intron	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	142										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GCTGAGTCCCGTGGGCCTTTT	0.398																																						ENST00000539153.1																			0				NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14						c.(415-417)Gtg>Ttg		piggyBac transposable element derived 2							62	70	67					1																	249211207		2201	4300	6501	SO:0001583	missense	0							g.chr1:249211207G>T	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.424G>T	1.37:g.249211207G>T	ENSP00000331643:p.Val142Leu					PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000329291.5_Missense_Mutation_p.V142L	p.V139L			Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		4	670	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	142					B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	37	c.415G>T	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951177	0.53186	.	.	ENSG00000185220	ENST00000329291;ENST00000539153	T;T	0.18960	2.18;2.18	4.18	4.18	0.49190	.	0.000000	0.30473	U	0.009559	T	0.33294	0.0858	L	0.49350	1.555	0.24069	N	0.995988	D;D	0.76494	0.982;0.999	P;D	0.85130	0.88;0.997	T	0.14699	-1.0463	10	0.06757	T	0.87	-25.4058	12.2179	0.54416	0.0:0.0:1.0:0.0	.	139;142	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	L	142;139	ENSP00000331643:V142L;ENSP00000439950:V139L	ENSP00000331643:V142L	V	+	1	0	PGBD2	247177830	0.998000	0.40836	0.812000	0.32479	0.721000	0.41392	2.096000	0.41738	2.331000	0.79229	0.655000	0.94253	GTG		0.398	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			13	35	1	0	1.99824e-07	0.0333	2.37885e-07	13	35					T	249211207	G	T	249211207	3	4	230	1	0	0	0	0	1	0	0	0	11781	1145	40	4	430	4	PGBD2	1	249211207	Missense_Mutation	SNP	G	TCGA-EL-A3MY-01A-11D-A21A-08	103915702	249211207	39414	3	4875											
ITSN2	50618	broad.mit.edu	37	chr2	24550934	24550934	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcttaccattcatagctgtGggaaactgagccatcatggt	10	9	2	1			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr2:24550934G>T	ENST00000355123.4	-	2	461	c.18C>A	c.(16-18)ccC>ccA	p.P6P	ITSN2_ENST00000407704.1_5'UTR|ITSN2_ENST00000361999.3_Silent_p.P6P|ITSN2_ENST00000406921.3_Silent_p.P6P	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	6					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCATAGCTGTGGGAAACTGAG	0.373																																						ENST00000355123.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(16-18)ccC>ccA		intersectin 2							141	121	128					2																	24550934		2203	4300	6503	SO:0001819	synonymous_variant	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24550934G>T	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.18C>A	2.37:g.24550934G>T						ITSN2_ENST00000407704.1_5'UTR|ITSN2_ENST00000361999.3_Silent_p.P6P|ITSN2_ENST00000406921.3_Silent_p.P6P	p.P6P	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN			2	461	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		6					O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Silent	SNP	ENST00000355123.4	37	c.18C>A	CCDS1710.2																																																																																				0.373	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		4	57	1	0	3.59834e-05	0.021553	4.08902e-05	4	57					T	24550934	G	T	24550934	2	4	230	1	0	0	0	0	0	0	0	1	7927	1335	47	4		4	ITSN2	2	24550934	Silent	SNP	G	TCGA-EL-A3MY-01A-11D-A21A-08		24550934	218648439	4	4876											
ANKRD36	375248	broad.mit.edu	37	chr2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-													gaaacaaccagctgagaaggTaattaaagtctcatttatat					rs375413411		TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36											endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314																																						ENST00000420699.2																			0				endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.e25+2		ankyrin repeat domain 36																																				SO:0001630	splice_region_variant	375248							g.chr2:97847365_97847368delTAAT	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.1764+2TAAT>-	2.37:g.97847365_97847368delTAAT						ANKRD36_ENST00000461153.2_Splice_Site		NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			25	2008	+								B4E3I8|Q6UX02|Q86X62|Q9HCD1	Splice_Site	DEL	ENST00000461153.2	37		CCDS54379.1																																																																																				0.314	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5		Intron	4	8						4	8	---	---	---	---	-	97847368	TAAT	-	97847365	8	5	230	1	0	1	0	1	0	0	1	0	665	1652	57	0	1864	0	ANKRD36	2	97847365	Splice_Site	DEL	TAAT	TCGA-EL-A3MY-01A-11D-A21A-08	73296431	97847365	145352008	5	4877											
TTN	7273	broad.mit.edu	37	chr2	179402314	179402314	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggaacccacagctccaTaatatttctctttcagtggg	9	10	2	0			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr2:179402314T>C	ENST00000591111.1	-	305	94921	c.94697A>G	c.(94696-94698)tAt>tGt	p.Y31566C	TTN_ENST00000342992.6_Missense_Mutation_p.Y30639C|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Y33207C|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y24334C|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y24267C|TTN_ENST00000460472.2_Missense_Mutation_p.Y24142C|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592836.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31566					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)			CACAGCTCCATAATATTTCTC	0.458																																						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.(99619-99621)tAt>tGt		titin							78	78	78					2																	179402314		1878	4108	5986	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179402314T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.94697A>G	2.37:g.179402314T>C	ENSP00000465570:p.Tyr31566Cys					TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Y24142C|TTN_ENST00000342175.6_Missense_Mutation_p.Y24334C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y24267C|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Y31566C|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y30639C|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585358.1_RNA	p.Y33207C	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)		355	99844	-			31566					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.99620A>G		.	.	.	.	.	.	.	.	.	.	T	12.55	1.971308	0.34754	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.89	5.89	0.94794	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.20536	0.0494	N	0.03608	-0.345	0.41560	D	0.988627	B;B;B;B	0.20261	0.043;0.043;0.043;0.024	B;B;B;B	0.20577	0.03;0.03;0.03;0.03	T	0.09773	-1.0659	9	0.87932	D	0	.	6.6093	0.22743	0.1376:0.0715:0.0:0.7908	.	24142;24267;24334;31566	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	30639;24142;24334;24267;24139	ENSP00000343764:Y30639C;ENSP00000434586:Y24142C;ENSP00000340554:Y24334C;ENSP00000352154:Y24267C	ENSP00000340554:Y24334C	Y	-	2	0	TTN	179110560	0.987000	0.35691	1.000000	0.80357	0.991000	0.79684	2.114000	0.41911	2.257000	0.74773	0.460000	0.39030	TAT		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	37	0	0	0	0.009096	0	3	37					C	179402314	T	C	179402314	3	2	230	1	0	0	0	0	1	0	0	0	16732	1406	49	3	8391	3	TTN	2	179402314	Missense_Mutation	SNP	T	TCGA-EL-A3MY-01A-11D-A21A-08	81554949	179402314	63797059	6	4878											
COL4A4	1286	broad.mit.edu	37	chr2	227875182	227875182	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaggtatccagggccaaaccCtttgggcccaggatccccaa	11	14	0	0			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr2:227875182C>G	ENST00000396625.3	-	46	4576	c.4369G>C	c.(4369-4371)Ggg>Cgg	p.G1457R	COL4A4_ENST00000329662.7_Missense_Mutation_p.G1454R	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1457	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGGCCAAACCCTTTGGGCCCA	0.572																																						ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(4369-4371)Ggg>Cgg		collagen, type IV, alpha 4							25	25	25					2																	227875182		1842	4092	5934	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227875182C>G		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.4369G>C	2.37:g.227875182C>G	ENSP00000379866:p.Gly1457Arg					COL4A4_ENST00000329662.7_Missense_Mutation_p.G1454R	p.G1457R	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	46	4576	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	1457			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.4369G>C	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.165708	0.38217	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.99429	-5.89;-5.89	5.69	5.69	0.88448	.	.	.	.	.	D	0.99619	0.9861	H	0.94183	3.505	0.39561	D	0.969137	D	0.76494	0.999	D	0.75020	0.985	D	0.98200	1.0467	9	0.72032	D	0.01	.	13.0739	0.59077	0.0:0.9268:0.0:0.0732	.	1457	P53420	CO4A4_HUMAN	R	1457;1454	ENSP00000379866:G1457R;ENSP00000328553:G1454R	ENSP00000328553:G1454R	G	-	1	0	COL4A4	227583426	0.996000	0.38824	0.962000	0.40283	0.478000	0.33099	3.291000	0.51764	2.687000	0.91594	0.655000	0.94253	GGG		0.572	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		6	21	0	0	0	0.02938	0	6	21					G	227875182	C	G	227875182	3	3	230	1	0	0	0	0	1	0	0	0	3693	681	24	4	715	4	COL4A4	2	227875182	Missense_Mutation	SNP	C	TCGA-EL-A3MY-01A-11D-A21A-08	48472868	227875182	15324191	7	4879											
TNIP2	79155	broad.mit.edu	37	chr4	2757866	2757866	+	Frame_Shift_Del	DEL	G	G	-													cccctccagcgcggccaggcGggcgcggaggcgagcgatga							TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr4:2757866delG	ENST00000315423.7	-	1	237	c.151delC	c.(151-153)cgcfs	p.R51fs	TNIP2_ENST00000503235.1_Frame_Shift_Del_p.R51fs|TNIP2_ENST00000510267.1_5'UTR	NM_024309.3	NP_077285.3			TNFAIP3 interacting protein 2											breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCGGCCAGGCGGGCGCGGAGG	0.761																																						ENST00000315423.7																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14						c.(151-153)gcfs		TNFAIP3 interacting protein 2							2	2	2					4																	2757866		1279	2739	4018	SO:0001589	frameshift_variant	79155					cytosol	protein binding	g.chr4:2757866delG	BC002740	CCDS3362.1, CCDS54714.1, CCDS75093.1	4p16.3	2008-08-01			ENSG00000168884	ENSG00000168884			19118	protein-coding gene	gene with protein product		610669				11390377, 12933576	Standard	NM_024309		Approved	ABIN-2, MGC4289, KLIP, FLIP1	uc003gfg.2	Q8NFZ5	OTTHUMG00000090267	ENST00000315423.7:c.151delC	4.37:g.2757866delG	ENSP00000321203:p.Arg51fs					TNIP2_ENST00000510267.1_5'UTR|TNIP2_ENST00000503235.1_Frame_Shift_Del_p.R51fs	p.R51fs	NM_024309.3	NP_077285.3	Q8NFZ5	TNIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	1	237	-			51						Frame_Shift_Del	DEL	ENST00000315423.7	37	c.151delC	CCDS3362.1																																																																																				0.761	TNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206589.5	NM_024309		2	4						2	4	---	---	---	---	-	2757866	G	-	2757866	7	5	230	1	0	1	0	1	0	0	0	0	16312	1116	39	0	1162	0	TNIP2	4	2757866	Frame_Shift_Del	DEL	G	TCGA-EL-A3MY-01A-11D-A21A-08		2757866	188396410	8	4880											
PITX2	5308	broad.mit.edu	37	chr4	111539506	111539506	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctactcaggttgttcaagttAttcaggctgttgagactgga	11	7	3	1			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr4:111539506A>T	ENST00000354925.2	-	7	2434	c.729T>A	c.(727-729)aaT>aaA	p.N243K	PITX2_ENST00000394595.3_Nonstop_Mutation_p.*175K|RP11-380D23.2_ENST00000503456.1_lincRNA|PITX2_ENST00000394598.2_Missense_Mutation_p.N243K|PITX2_ENST00000355080.5_Missense_Mutation_p.N197K|PITX2_ENST00000556049.1_5'Flank|PITX2_ENST00000306732.3_Missense_Mutation_p.N250K	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	243					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|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)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		TGTTCAAGTTATTCAGGCTGT	0.582																																						ENST00000394595.3																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10						c.(523-525)Taa>Aaa		paired-like homeodomain 2							56	59	58					4																	111539506		2203	4300	6503	SO:0001583	missense	5308				determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr4:111539506A>T	U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"Homeoboxes / PRD class"	9005	protein-coding gene	gene with protein product		601542	"paired-like homeodomain transcription factor 2"	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.729T>A	4.37:g.111539506A>T	ENSP00000347004:p.Asn243Lys					PITX2_ENST00000394598.2_Missense_Mutation_p.N243K|PITX2_ENST00000306732.3_Missense_Mutation_p.N250K|PITX2_ENST00000354925.2_Missense_Mutation_p.N243K|PITX2_ENST00000355080.5_Missense_Mutation_p.N197K	p.*175K			Q99697	PITX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00222)	4	778	-		Hepatocellular(203;0.217)	0					A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Nonstop_Mutation	SNP	ENST00000354925.2	37	c.523T>A	CCDS3692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.34|13.34	2.208825|2.208825	0.39003|0.39003	.|.	.|.	ENSG00000164093|ENSG00000164093	ENST00000306732;ENST00000394598;ENST00000355080;ENST00000354925;ENST00000511837|ENST00000394595	D;D;D;D;D|.	0.92699|.	-2.74;-2.86;-3.0;-2.86;-3.09|.	5.68|5.68	1.91|1.91	0.25777|0.25777	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.52533|.	0.1740|.	M|M	0.68952|0.68952	2.095|2.095	0.09310|0.09310	N|N	1|1	B;D;P;P|.	0.61080|.	0.349;0.989;0.695;0.481|.	B;D;B;B|.	0.70487|.	0.108;0.969;0.114;0.217|.	T|.	0.42916|.	-0.9423|.	10|.	0.29301|.	T|.	0.29|.	.|.	9.9959|9.9959	0.41898|0.41898	0.6677:0.0:0.3323:0.0|0.6677:0.0:0.3323:0.0	.|.	197;197;243;250|.	A8K6C6;Q99697-3;Q99697;Q99697-2|.	.;.;PITX2_HUMAN;.|.	K|K	250;243;197;243;243|175	ENSP00000304169:N250K;ENSP00000378097:N243K;ENSP00000347192:N197K;ENSP00000347004:N243K;ENSP00000421454:N243K|.	ENSP00000304169:N250K|.	N|X	-|-	3|1	2|0	PITX2|PITX2	111758955|111758955	.|.	.|.	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	.|.	.|.	0.111000|0.111000	0.17947|0.17947	0.533000|0.533000	0.62120|0.62120	AAT|TAA		0.582	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2			28	68	0	0	0	0.030593	0	28	68					T	111539506	A	T	111539506	3	4	230	1	0	0	0	0	1	0	0	0	11955	446	16	5	228	5	PITX2	4	111539506	Missense_Mutation	SNP	A	TCGA-EL-A3MY-01A-11D-A21A-08	108781640	111539506	79614770	9	4881											
IRX2	153572	broad.mit.edu	37	chr5	2748624	2748624	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accctggccctgcagcgccgCgttcaagttcccgtagtttg	11	15	1	0			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr5:2748624C>A	ENST00000382611.6	-	3	1446	c.1198G>T	c.(1198-1200)Gcg>Tcg	p.A400S	IRX2_ENST00000502957.1_5'Flank|IRX2_ENST00000302057.5_Missense_Mutation_p.A400S	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	400					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		TGCAGCGCCGCGTTCAAGTTC	0.706																																						ENST00000382611.6																			0				breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26						c.(1198-1200)Gcg>Tcg		iroquois homeobox 2							37	38	38					5																	2748624		2189	4286	6475	SO:0001583	missense	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2748624C>A	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"Homeoboxes / TALE class"	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.1198G>T	5.37:g.2748624C>A	ENSP00000372056:p.Ala400Ser					IRX2_ENST00000302057.5_Missense_Mutation_p.A400S	p.A400S	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	3	1446	-			400					Q68A19|Q7Z2I7	Missense_Mutation	SNP	ENST00000382611.6	37	c.1198G>T	CCDS3868.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.511595	0.27036	.	.	ENSG00000170561	ENST00000382611;ENST00000302057	T;T	0.64803	-0.12;-0.12	4.43	4.43	0.53597	.	0.067153	0.64402	D	0.000011	T	0.51295	0.1666	L	0.39898	1.24	0.35681	D	0.81406	B	0.31040	0.305	B	0.25884	0.064	T	0.57596	-0.7784	10	0.16420	T	0.52	-19.73	17.4343	0.87547	0.0:1.0:0.0:0.0	.	400	Q9BZI1	IRX2_HUMAN	S	400	ENSP00000372056:A400S;ENSP00000307006:A400S	ENSP00000307006:A400S	A	-	1	0	IRX2	2801624	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.982000	0.70532	2.184000	0.69523	0.561000	0.74099	GCG		0.706	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			40	78	1	0	5.73435e-26	0.048971	7.35173e-26	40	78					A	2748624	C	A	2748624	3	1	230	1	0	0	0	0	1	0	0	0	7844	768	27	4	225	4	IRX2	5	2748624	Missense_Mutation	SNP	C	TCGA-EL-A3MY-01A-11D-A21A-08		2748624	178166636	10	4882											
RANBP9	10048	broad.mit.edu	37	chr6	13711709	13711709	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgctgttgctgctgctgcGgcggcggcggcggcggctgc	20	13	0	0			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr6:13711709G>T	ENST00000011619.3	-	1	87	c.29C>A	c.(28-30)cCg>cAg	p.P10Q		NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	10	Poly-Pro.				axon guidance (GO:0007411)|microtubule nucleation (GO:0007020)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			ctgctgctgcggcggcggcgg	0.761																																						ENST00000011619.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16						c.(28-30)cCg>cAg		RAN binding protein 9							4	5	5					6																	13711709		764	1870	2634	SO:0001583	missense	10048				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding	g.chr6:13711709G>T	AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"Ran Binding Protein in the Microtubule organizing center"	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.29C>A	6.37:g.13711709G>T	ENSP00000011619:p.Pro10Gln						p.P10Q	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	Epithelial(50;0.223)		1	87	-	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	10			Poly-Pro.		A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Missense_Mutation	SNP	ENST00000011619.3	37	c.29C>A	CCDS4529.1	.	.	.	.	.	.	.	.	.	.	g	8.018	0.759040	0.15846	.	.	ENSG00000010017	ENST00000011619;ENST00000283152	T	0.78003	-1.14	1.59	-3.18	0.05186	.	.	.	.	.	T	0.30198	0.0757	N	0.08118	0	0.21416	N	0.999694	B	0.18968	0.032	B	0.10450	0.005	T	0.18555	-1.0333	9	0.30854	T	0.27	.	5.1241	0.14875	0.0:0.0:0.4149:0.5851	.	10	Q96S59	RANB9_HUMAN	Q	10	ENSP00000011619:P10Q	ENSP00000011619:P10Q	P	-	2	0	RANBP9	13819688	0.000000	0.05858	0.967000	0.41034	0.688000	0.40055	-1.054000	0.03496	-0.053000	0.13289	0.154000	0.16183	CCG		0.761	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1			3	35	1	0	0.00909568	0.009096	0.00988661	3	35					T	13711709	G	T	13711709	3	4	230	1	0	0	0	0	1	0	0	0	13032	1116	39	4	2216	4	RANBP9	6	13711709	Missense_Mutation	SNP	G	TCGA-EL-A3MY-01A-11D-A21A-08		13711709	157403358	11	4883											
E2F3	1871	broad.mit.edu	37	chr6	20486987	20486987	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagaccaaactgttatagttGtgaaagcccctccagaaaca	7	10	0	3			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr6:20486987G>T	ENST00000346618.3	+	5	1018	c.952G>T	c.(952-954)Gtg>Ttg	p.V318L	E2F3_ENST00000535432.1_Missense_Mutation_p.V187L	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	318	Dimerization. {ECO:0000255}.				mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			TGTTATAGTTGTGAAAGCCCC	0.383																																						ENST00000346618.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(952-954)Gtg>Ttg		E2F transcription factor 3							84	76	79					6																	20486987		2203	4300	6503	SO:0001583	missense	1871				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:20486987G>T	Y10479	CCDS4545.1, CCDS58999.1	6p22	2008-08-29			ENSG00000112242	ENSG00000112242			3115	protein-coding gene	gene with protein product		600427				8246996	Standard	NM_001949		Approved		uc003nda.2	O00716	OTTHUMG00000016389	ENST00000346618.3:c.952G>T	6.37:g.20486987G>T	ENSP00000262904:p.Val318Leu					E2F3_ENST00000535432.1_Missense_Mutation_p.V187L	p.V318L	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)		5	1018	+	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		318			Dimerization (Potential).		Q15000|Q68DT0|Q9BZ44	Missense_Mutation	SNP	ENST00000346618.3	37	c.952G>T	CCDS4545.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808216	0.70797	.	.	ENSG00000112242	ENST00000346618;ENST00000535432	D;D	0.90732	-2.72;-2.72	5.93	5.06	0.68205	.	0.119035	0.56097	N	0.000023	D	0.84710	0.5532	L	0.59436	1.845	0.58432	D	0.999999	P	0.45986	0.87	B	0.43194	0.411	D	0.86007	0.1498	10	0.56958	D	0.05	.	10.467	0.44614	0.069:0.1349:0.7961:0.0	.	318	O00716	E2F3_HUMAN	L	318;187	ENSP00000262904:V318L;ENSP00000443418:V187L	ENSP00000262904:V318L	V	+	1	0	E2F3	20594966	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.765000	0.74965	1.495000	0.48549	0.561000	0.74099	GTG		0.383	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043828.1			11	39	1	0	3.27435e-08	0.020292	4.09294e-08	11	39					T	20486987	G	T	20486987	3	4	230	1	0	0	0	0	1	0	0	0	4868	1377	48	4	970	4	E2F3	6	20486987	Missense_Mutation	SNP	G	TCGA-EL-A3MY-01A-11D-A21A-08	6775278	20486987	150628080	12	4884											
FAM120B	84498	broad.mit.edu	37	chr6	170628184	170628184	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagtaaagcaacaagtaaCcatggtttcagacactgaaa	8	7	1	3			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr6:170628184C>T	ENST00000476287.1	+	2	1814	c.1706C>T	c.(1705-1707)aCc>aTc	p.T569I	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Missense_Mutation_p.T592I|FAM120B_ENST00000540480.1_Missense_Mutation_p.T581I	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	569					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		CAACAAGTAACCATGGTTTCA	0.388																																						ENST00000476287.1																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44						c.(1705-1707)aCc>aTc		family with sequence similarity 120B							47	51	49					6																	170628184		2200	4297	6497	SO:0001583	missense	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170628184C>T	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"PPARgamma constitutive coactivator 1", "constitutive coactivator of PPAR-gamma"	612266	"KIAA1838"	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.1706C>T	6.37:g.170628184C>T	ENSP00000417970:p.Thr569Ile					FAM120B_ENST00000540480.1_Missense_Mutation_p.T581I|FAM120B_ENST00000537664.1_Missense_Mutation_p.T592I|FAM120B_ENST00000252510.9_Intron	p.T569I	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	2	1814	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	569					B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	c.1706C>T	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.241785	0.58995	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.10005	2.93;2.92;2.94	4.0	4.0	0.46444	.	0.979946	0.08367	N	0.956701	T	0.09512	0.0234	L	0.48642	1.525	0.80722	D	1	P;P	0.50528	0.936;0.922	P;P	0.52189	0.692;0.614	T	0.30822	-0.9965	10	0.18710	T	0.47	-4.1795	11.9003	0.52680	0.0:1.0:0.0:0.0	.	569;569	Q96EK7;F2Z2E1	F120B_HUMAN;.	I	581;592;569	ENSP00000444125:T581I;ENSP00000440125:T592I;ENSP00000417970:T569I	ENSP00000436640:T569I	T	+	2	0	FAM120B	170470109	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	3.156000	0.50708	2.536000	0.85505	0.561000	0.74099	ACC		0.388	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		10	27	0	0	0	0.069234	0	10	27					T	170628184	C	T	170628184	3	4	230	1	0	0	0	0	1	0	0	0	5417	507	18	2	1708	2	FAM120B	6	170628184	Missense_Mutation	SNP	C	TCGA-EL-A3MY-01A-11D-A21A-08	150141197	170628184	486883	13	4885											
AGR2	10551	broad.mit.edu	37	chr7	16839390	16839390	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagattgaggaggacaaacTgctctgccaatttctggatt	10	9	2	2			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr7:16839390T>C	ENST00000419304.2	-	5	460	c.308A>G	c.(307-309)cAg>cGg	p.Q103R	AGR2_ENST00000419572.2_Missense_Mutation_p.Q123R|AGR2_ENST00000401412.1_Missense_Mutation_p.Q103R	NM_006408.3	NP_006399.1	O95994	AGR2_HUMAN	anterior gradient 2	103					lung goblet cell differentiation (GO:0060480)|mucus secretion (GO:0070254)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)	dystroglycan binding (GO:0002162)			endometrium(2)|lung(1)|prostate(1)|skin(2)	6	Lung NSC(10;0.0376)|all_lung(11;0.0855)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		GAGGACAAACTGCTCTGCCAA	0.308																																						ENST00000419304.2																			0				endometrium(2)|lung(1)|prostate(1)|skin(2)	6						c.(307-309)cAg>cGg		anterior gradient 2							164	166	165					7																	16839390		2203	4299	6502	SO:0001583	missense	10551				mucus secretion	endoplasmic reticulum|extracellular region	protein binding	g.chr7:16839390T>C	AF038451	CCDS5364.1	7p21.3	2013-07-31	2013-07-31		ENSG00000106541	ENSG00000106541		"Protein disulfide isomerases"	328	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 17"	606358	"anterior gradient 2 homolog (Xenopus laevis)"			9790916	Standard	NM_006408		Approved	XAG-2, HAG-2, AG2, PDIA17	uc003str.3	O95994	OTTHUMG00000023446	ENST00000419304.2:c.308A>G	7.37:g.16839390T>C	ENSP00000391490:p.Gln103Arg					AGR2_ENST00000401412.1_Missense_Mutation_p.Q103R|AGR2_ENST00000419572.2_Missense_Mutation_p.Q123R	p.Q103R	NM_006408.3	NP_006399.1	O95994	AGR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.184)	5	460	-	Lung NSC(10;0.0376)|all_lung(11;0.0855)		103						Missense_Mutation	SNP	ENST00000419304.2	37	c.308A>G	CCDS5364.1	.	.	.	.	.	.	.	.	.	.	T	15.00	2.703253	0.48412	.	.	ENSG00000106541	ENST00000419304;ENST00000450569;ENST00000419572;ENST00000401412;ENST00000412973	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	5.1	5.1	0.69264	Thioredoxin-like fold (2);	0.121273	0.56097	D	0.000027	T	0.29355	0.0731	N	0.11927	0.2	0.33620	D	0.604711	B	0.09022	0.002	B	0.23150	0.044	T	0.40232	-0.9574	10	0.87932	D	0	-16.1632	14.5894	0.68354	0.0:0.0:0.0:1.0	.	103	O95994	AGR2_HUMAN	R	103;33;123;103;103	ENSP00000391490:Q103R;ENSP00000388342:Q123R;ENSP00000386025:Q103R;ENSP00000411969:Q103R	ENSP00000386025:Q103R	Q	-	2	0	AGR2	16805915	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.906000	0.56340	1.931000	0.55961	0.454000	0.30748	CAG		0.308	AGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207594.2	NM_006408		6	18	0	0	0	0.038147	0	6	18					C	16839390	T	C	16839390	3	2	230	1	0	0	0	0	1	0	0	0	395	1580	55	3	235	3	AGR2	7	16839390	Missense_Mutation	SNP	T	TCGA-EL-A3MY-01A-11D-A21A-08		16839390	142299273	14	4886											
C7orf47	221908	broad.mit.edu	37	chr7	100033362	100033362	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aggctcaccaggtcccggaaGagccgcttggagcgcggcac	15	14	1	1			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr7:100033362G>C	ENST00000292330.2	-	3	670	c.480C>G	c.(478-480)ctC>ctG	p.L160L	RP11-758P17.2_ENST00000492523.1_RNA|RP11-758P17.3_ENST00000475250.1_RNA|PPP1R35_ENST00000476185.1_Intron	NM_145030.2	NP_659467.1	Q8TAP8	PPR35_HUMAN	protein phosphatase 1, regulatory subunit 35	160					negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										GGTCCCGGAAGAGCCGCTTGG	0.721																																						ENST00000292330.2																			0											c.(478-480)ctC>ctG		protein phosphatase 1, regulatory subunit 35							13	15	14					7																	100033362		2194	4292	6486	SO:0001819	synonymous_variant	221908							g.chr7:100033362G>C	BC026269	CCDS5694.1	7q22.1	2012-04-17	2011-10-11	2011-10-11	ENSG00000160813	ENSG00000160813		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	28320	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 47"	C7orf47		12477932	Standard	NM_145030		Approved	MGC22793	uc003uuy.1	Q8TAP8	OTTHUMG00000159540	ENST00000292330.2:c.480C>G	7.37:g.100033362G>C						RP11-758P17.2_ENST00000492523.1_RNA|PPP1R35_ENST00000476185.1_Intron	p.L160L	NM_145030.2	NP_659467.1	Q8TAP8	CG047_HUMAN			3	670	-			160					A4D2C5	Silent	SNP	ENST00000292330.2	37	c.480C>G	CCDS5694.1																																																																																				0.721	PPP1R35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356095.2	NM_145030		3	8	0	0	0	0.014758	0	3	8					C	100033362	G	C	100033362	2	2	230	1	0	0	0	0	0	0	0	1	2397	929	33	4		4	C7orf47	7	100033362	Silent	SNP	G	TCGA-EL-A3MY-01A-11D-A21A-08	83193972	100033362	59105301	15	4887											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		12	38	0	0	0	0.105934	0	12	38					T	140453136	A	T	140453136	3	4	230	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3MY-01A-11D-A21A-08	40419774	140453136	18685527	16	4888											
ECM2	1842	broad.mit.edu	37	chr9	95277148	95277148	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaccctcctcctcctcatcCtcctcctcctcccttccttg	1	24	2	0			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr9:95277148C>A	ENST00000344604.5	-	4	968	c.819G>T	c.(817-819)gaG>gaT	p.E273D	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Missense_Mutation_p.E251D	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	273	Poly-Glu.				cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						cctcctcatcctcctcctcct	0.607																																						ENST00000344604.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(817-819)gaG>gaT		extracellular matrix protein 2, female organ and adipocyte specific							233	178	197					9																	95277148		2203	4300	6503	SO:0001583	missense	1842				cell-matrix adhesion		integrin binding	g.chr9:95277148C>A	AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"matrix glycoprotein SC1/ECM2"	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.819G>T	9.37:g.95277148C>A	ENSP00000344758:p.Glu273Asp					ECM2_ENST00000444490.2_Missense_Mutation_p.E251D|CENPP_ENST00000375587.3_Intron	p.E273D	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN			4	968	-			273			Poly-Glu.		B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	ENST00000344604.5	37	c.819G>T	CCDS6698.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.150863	0.37923	.	.	ENSG00000106823	ENST00000444490;ENST00000344604	T;T	0.51071	0.72;0.74	4.31	-1.15	0.09709	.	0.388711	0.26424	N	0.024459	T	0.25606	0.0623	L	0.31926	0.97	0.09310	N	1	B;B;B	0.11235	0.002;0.002;0.004	B;B;B	0.09377	0.002;0.002;0.004	T	0.06862	-1.0803	10	0.31617	T	0.26	.	0.4051	0.00432	0.2638:0.2764:0.1301:0.3297	.	273;251;251	O94769;B4DK93;O94769-2	ECM2_HUMAN;.;.	D	251;273	ENSP00000393971:E251D;ENSP00000344758:E273D	ENSP00000344758:E273D	E	-	3	2	ECM2	94316969	0.000000	0.05858	0.002000	0.10522	0.433000	0.31745	-0.835000	0.04386	-0.326000	0.08564	0.650000	0.86243	GAG		0.607	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393		4	118	1	0	2.0095e-06	0.02938	2.33663e-06	4	118					A	95277148	C	A	95277148	3	1	230	1	0	0	0	0	1	0	0	0	4898	680	24	4	1308	4	ECM2	9	95277148	Missense_Mutation	SNP	C	TCGA-EL-A3MY-01A-11D-A21A-08		95277148	45936283	17	4889											
C10orf18	54906	broad.mit.edu	37	chr10	5781833	5781833	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctgaattgccacaaaatgAtgttttgctctctaaagaaa	6	8	2	3			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr10:5781833A>C	ENST00000328090.5	+	13	2325	c.1700A>C	c.(1699-1701)gAt>gCt	p.D567A	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	567																	CCACAAAATGATGTTTTGCTC	0.378																																						ENST00000328090.5																			0											c.(1699-1701)gAt>gCt		family with sequence similarity 208, member B							90	84	86					10																	5781833		1856	4093	5949	SO:0001583	missense	54906							g.chr10:5781833A>C	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.1700A>C	10.37:g.5781833A>C	ENSP00000328426:p.Asp567Ala					RP11-336A10.2_ENST00000411512.2_RNA	p.D567A	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			13	2325	+			567					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.1700A>C	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	A	8.339	0.828256	0.16749	.	.	ENSG00000108021	ENST00000328090	D	0.96940	-4.18	5.7	4.57	0.56435	.	0.698059	0.14004	N	0.347915	D	0.93867	0.8038	L	0.44542	1.39	0.09310	N	1	P	0.39352	0.669	B	0.41374	0.355	D	0.88174	0.2866	10	0.62326	D	0.03	.	8.4131	0.32655	0.8433:0.0:0.1567:0.0	.	567	Q5VWN6	F208B_HUMAN	A	567	ENSP00000328426:D567A	ENSP00000328426:D567A	D	+	2	0	C10orf18	5821839	0.017000	0.18338	0.010000	0.14722	0.063000	0.16089	0.631000	0.24568	0.993000	0.38866	0.402000	0.26972	GAT		0.378	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		21	43	0	0	0	0.108266	0	21	43					C	5781833	A	C	5781833	3	2	230	1	0	0	0	0	1	0	0	0	1596	333	12	5	1738	5	C10orf18	10	5781833	Missense_Mutation	SNP	A	TCGA-EL-A3MY-01A-11D-A21A-08		5781833	129752914	18	4890											
AGAP5	729092	broad.mit.edu	37	chr10	75451811	75451811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttacttacatggtttgtaCagttgcttcttcttatttct	6	7	3	0	rs193138705	byFrequency	TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr10:75451811C>T	ENST00000374094.4	-	4	426	c.386G>A	c.(385-387)tGt>tAt	p.C129Y	AGAP5_ENST00000443782.2_Missense_Mutation_p.C106Y|RP11-464F9.1_ENST00000399449.3_RNA	NM_001144000.1	NP_001137472.1	A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	129					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.C106Y(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						ATGGTTTGTACAGTTGCTTCT	0.284													.|||	70	0.0139776	0	0.0764	5008	,	,		12190	0.0149		0	False		,,,				2504	0.002					ENST00000443782.2																			1	Substitution - Missense(1)	p.C106Y(1)	kidney(1)	NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						c.(316-318)tGt>tAt		ArfGAP with GTPase domain, ankyrin repeat and PH domain 5							9	10	10					10																	75451811		678	1511	2189	SO:0001583	missense	729092				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:75451811C>T		CCDS44439.1	10q22.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000172650	ENSG00000172650		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	23467	protein-coding gene	gene with protein product			"centaurin, gamma-like family, member 2"	CTGLF2			Standard	NM_001144000		Approved	Em:AC073389.1	uc009xri.3	A6NIR3	OTTHUMG00000018473	ENST00000374094.4:c.386G>A	10.37:g.75451811C>T	ENSP00000363207:p.Cys129Tyr					RP11-464F9.1_ENST00000399449.3_RNA|AGAP5_ENST00000374094.4_Missense_Mutation_p.C129Y	p.C106Y			A6NIR3	AGAP5_HUMAN			3	442	-			129					A8MSN5	Missense_Mutation	SNP	ENST00000374094.4	37	c.317G>A	CCDS44439.1	38	0.0173992673992674	0	0.0	16	0.04419889502762431	19	0.033216783216783216	3	0.00395778364116095	-	5.178	0.218414	0.09810	.	.	ENSG00000172650	ENST00000374094;ENST00000443782	D;D	0.87887	-2.31;-2.31	1.7	0.523	0.17060	.	0.321578	0.27384	N	0.019618	T	0.30854	0.0778	N	0.02539	-0.55	0.21841	N	0.999514	B	0.02656	0.0	B	0.01281	0.0	T	0.43734	-0.9373	10	0.23302	T	0.38	.	4.8038	0.13310	0.0:0.1928:0.0:0.8072	.	129	A6NIR3	AGAP5_HUMAN	Y	129;106	ENSP00000363207:C129Y;ENSP00000402792:C106Y	ENSP00000363207:C129Y	C	-	2	0	AGAP5	75121817	1.000000	0.71417	0.996000	0.52242	0.068000	0.16541	1.548000	0.36201	0.138000	0.18790	0.184000	0.17185	TGT		0.284	AGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		XM_001132585		3	5	0	0	0	0.014758	0	3	5					T	75451811	C	T	75451811	3	4	230	1	0	0	0	0	1	0	0	0	371	478	17	2	1694	2	AGAP5	10	75451811	Missense_Mutation	SNP	C	TCGA-EL-A3MY-01A-11D-A21A-08	69669978	75451811	60082936	19	4891											
TACC2	10579	broad.mit.edu	37	chr10	123842613	123842613	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatcgaccagtcacctggaAtgtcgccagtacccctcaga	9	15	2	1			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr10:123842613A>G	ENST00000369005.1	+	4	938	c.598A>G	c.(598-600)Atg>Gtg	p.M200V	TACC2_ENST00000515273.1_Missense_Mutation_p.M200V|TACC2_ENST00000334433.3_Missense_Mutation_p.M200V|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.M200V|TACC2_ENST00000515603.1_Missense_Mutation_p.M200V|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	200					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GTCACCTGGAATGTCGCCAGT	0.582																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(598-600)Atg>Gtg		transforming, acidic coiled-coil containing protein 2							33	31	32					10																	123842613		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123842613A>G	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.598A>G	10.37:g.123842613A>G	ENSP00000358001:p.Met200Val					TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.M200V|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.M200V|TACC2_ENST00000453444.2_Missense_Mutation_p.M200V|TACC2_ENST00000334433.3_Missense_Mutation_p.M200V	p.M200V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	938	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	200					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.598A>G	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	A	6.786	0.514079	0.12944	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.02525	4.26;4.27;4.27;4.26;4.27	5.72	0.706	0.18133	.	0.978077	0.08303	N	0.966559	T	0.01558	0.0050	N	0.04508	-0.205	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.48681	-0.9014	10	0.11182	T	0.66	2.1058	9.2055	0.37287	0.6161:0.0:0.3839:0.0	.	200;200;200	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	V	200;200;200;200;200;190	ENSP00000358001:M200V;ENSP00000424467:M200V;ENSP00000427618:M200V;ENSP00000334280:M200V;ENSP00000395048:M200V	ENSP00000334280:M200V	M	+	1	0	TACC2	123832603	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.130000	0.10498	0.114000	0.18032	0.528000	0.53228	ATG		0.582	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			17	33	0	0	0	0.055883	0	17	33					G	123842613	A	G	123842613	3	3	230	1	0	0	0	0	1	0	0	0	15499	101	4	3	608	3	TACC2	10	123842613	Missense_Mutation	SNP	A	TCGA-EL-A3MY-01A-11D-A21A-08	48390802	123842613	11692134	20	4892											
CD3D	915	broad.mit.edu	37	chr11	118209888	118209888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtctcaggttcacttgttccGagcccagtttcctccaaggt	9	13	2	0	rs367800432		TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr11:118209888G>A	ENST00000300692.4	-	5	641	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	CD3D_ENST00000392884.2_Missense_Mutation_p.R125W|CD3D_ENST00000529594.1_Missense_Mutation_p.R96W	NM_000732.4	NP_000723.1	P04234	CD3D_HUMAN	CD3d molecule, delta (CD3-TCR complex)	169					cell surface receptor signaling pathway (GO:0007166)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive thymic T cell selection (GO:0045059)|regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	alpha-beta T cell receptor complex (GO:0042105)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	Muromonab(DB00075)	CACTTGTTCCGAGCCCAGTTT	0.502																																						ENST00000300692.4																			0				large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9						c.(505-507)Cgg>Tgg		CD3d molecule, delta (CD3-TCR complex)		G	TRP/ARG,TRP/ARG	1,4399	2.1+/-5.4	0,1,2199	119	110	113		505,373	1.0	0.1	11		113	1,8591	1.2+/-3.3	0,1,4295	no	missense,missense	CD3D	NM_000732.4,NM_001040651.1	101,101	0,2,6494	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	169/172,125/128	118209888	2,12990	2200	4296	6496	SO:0001583	missense	915				positive thymic T cell selection|T cell costimulation|T cell receptor signaling pathway	cytoplasm|integral to membrane	protein heterodimerization activity	g.chr11:118209888G>A	X01451	CCDS8394.1, CCDS41724.1	11q23	2014-09-17	2006-03-28		ENSG00000167286	ENSG00000167286		"CD molecules"	1673	protein-coding gene	gene with protein product		186790	"CD3d antigen, delta polypeptide (TiT3 complex)"	T3D			Standard	NM_000732		Approved		uc001pss.1	P04234	OTTHUMG00000166970	ENST00000300692.4:c.505C>T	11.37:g.118209888G>A	ENSP00000300692:p.Arg169Trp					CD3D_ENST00000392884.2_Missense_Mutation_p.R125W|CD3D_ENST00000529594.1_Missense_Mutation_p.R96W	p.R169W	NM_000732.4	NP_000723.1	P04234	CD3D_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	5	641	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	169					A8MVP6	Missense_Mutation	SNP	ENST00000300692.4	37	c.505C>T	CCDS8394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.94|15.94	2.981355|2.981355	0.53827|0.53827	2.27E-4|2.27E-4	1.16E-4|1.16E-4	ENSG00000167286|ENSG00000167286	ENST00000300692;ENST00000529594;ENST00000392884|ENST00000534687	T;T;T|.	0.71817|.	-0.6;-0.45;0.48|.	5.18|5.18	1.03|1.03	0.20045|0.20045	.|.	0.361176|.	0.23660|.	N|.	0.045834|.	T|T	0.48804|0.48804	0.1520|0.1520	M|M	0.81802|0.81802	2.56|2.56	0.18873|0.18873	N|N	0.999986|0.999986	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.81914|.	0.995;0.995|.	T|T	0.44283|0.44283	-0.9338|-0.9338	10|5	0.87932|.	D|.	0|.	-4.8893|-4.8893	4.0466|4.0466	0.09776|0.09776	0.177:0.0:0.4972:0.3257|0.177:0.0:0.4972:0.3257	.|.	125;169|.	A8MVP6;P04234|.	.;CD3D_HUMAN|.	W|L	169;96;125|129	ENSP00000300692:R169W;ENSP00000437335:R96W;ENSP00000376622:R125W|.	ENSP00000300692:R169W|.	R|S	-|-	1|2	2|0	CD3D|CD3D	117715098|117715098	0.353000|0.353000	0.24904|0.24904	0.060000|0.060000	0.19600|0.19600	0.787000|0.787000	0.44495|0.44495	1.147000|1.147000	0.31602|0.31602	0.353000|0.353000	0.24079|0.24079	-0.188000|-0.188000	0.12872|0.12872	CGG|TCG		0.502	CD3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392128.1	NM_000732		31	112	0	0	0	0.069456	0	31	112					A	118209888	G	A	118209888	3	1	230	1	0	0	0	0	1	0	0	0	3010	1057	37	1	14	1	CD3D	11	118209888	Missense_Mutation	SNP	G	TCGA-EL-A3MY-01A-11D-A21A-08		118209888	16796628	21	4893											
ZIC2	7546	broad.mit.edu	37	chr13	100637729	100637729	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggcagcggcggcggcggcTgcggcggcggcggccgcggt	24	14	0	0			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr13:100637729T>G	ENST00000376335.3	+	3	1685	c.1392T>G	c.(1390-1392)gcT>gcG	p.A464A		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	464	Poly-Ala.				brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					cggcggcggctgcggcggcgg	0.816																																					Pancreas(97;119 1522 31925 44771 48764)	ENST00000376335.3																			0				large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1390-1392)gcT>gcG		Zic family member 2							2	3	3					13																	100637729		692	1717	2409	SO:0001819	synonymous_variant	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100637729T>G	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"Zinc fingers, C2H2-type"	12873	protein-coding gene	gene with protein product	"Zinc finger protein of the cerebellum 2"	603073	"Zic family member 2 (odd-paired Drosophila homolog)", "Zic family member 2 (odd-paired homolog, Drosophila)"			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.1392T>G	13.37:g.100637729T>G							p.A464A	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN			3	1685	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		464			Poly-Ala.		Q5VYA9|Q9H309	Silent	SNP	ENST00000376335.3	37	c.1392T>G	CCDS9495.1																																																																																				0.816	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		3	33	0	0	0	0.004672	0	3	33					G	100637729	T	G	100637729	2	3	230	1	0	0	0	0	0	0	0	1	17676	1567	55	5		5	ZIC2	13	100637729	Silent	SNP	T	TCGA-EL-A3MY-01A-11D-A21A-08		100637729	14532149	22	4894											
C15orf63	25764	broad.mit.edu	37	chr15	44093364	44093364	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggagacagaaggtcccgggAgcagaaagccaaacaggagc	15	9	0	3			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr15:44093364A>G	ENST00000406925.1	+	3	4332	c.221A>G	c.(220-222)gAg>gGg	p.E74G	SERINC4_ENST00000319327.6_5'Flank|HYPK_ENST00000442995.2_Missense_Mutation_p.E74G|SERF2_ENST00000594896.1_Missense_Mutation_p.E120G|HYPK_ENST00000498605.1_3'UTR|RP11-296A16.1_ENST00000417761.2_5'Flank|HYPK_ENST00000458412.1_Intron|SERINC4_ENST00000249714.3_5'Flank|SERINC4_ENST00000299969.6_5'Flank|SERF2_ENST00000600633.1_Missense_Mutation_p.E74G			Q9NX55	HYPK_HUMAN	huntingtin interacting protein K	74						cytoplasm (GO:0005737)|nucleus (GO:0005634)							all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;8.1e-07)		AGGTCCCGGGAGCAGAAAGCC	0.493																																						ENST00000406925.1																			0											c.(220-222)gAg>gGg		huntingtin interacting protein K							87	79	82					15																	44093364		2198	4298	6496	SO:0001583	missense	25764							g.chr15:44093364A>G	AF049613	CCDS10104.1	15q14	2012-10-08	2012-10-08	2012-10-08	ENSG00000242028	ENSG00000242028			18418	protein-coding gene	gene with protein product	"Huntingtin yeast partner K"	612784	"chromosome 15 open reading frame 63"	C15orf63		9700202, 20154145	Standard	NM_016400		Approved	HSPC136, FLJ20431	uc001ztf.3	Q9NX55	OTTHUMG00000060146	ENST00000406925.1:c.221A>G	15.37:g.44093364A>G	ENSP00000384474:p.Glu74Gly					SERF2_ENST00000600633.1_Missense_Mutation_p.E74G|HYPK_ENST00000458412.1_Intron|SERF2_ENST00000594896.1_Missense_Mutation_p.E120G|HYPK_ENST00000498605.1_3'UTR|HYPK_ENST00000442995.2_Missense_Mutation_p.E74G	p.E74G						GBM - Glioblastoma multiforme(94;8.1e-07)	3	4332	+		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)						C9JKJ0|O75408|Q8WUW8|Q9P024	Missense_Mutation	SNP	ENST00000406925.1	37	c.221A>G	CCDS10104.1	.	.	.	.	.	.	.	.	.	.	A	32	5.165387	0.94768	.	.	ENSG00000242028	ENST00000406925;ENST00000442995	T;T	0.50813	0.73;0.73	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.65780	0.2724	M	0.79123	2.44	0.80722	D	1	D	0.69078	0.997	P	0.58721	0.844	T	0.70795	-0.4775	10	0.72032	D	0.01	-21.5167	15.4975	0.75666	1.0:0.0:0.0:0.0	.	74	Q9NX55	HYPK_HUMAN	G	74	ENSP00000384474:E74G;ENSP00000401155:E74G	ENSP00000384474:E74G	E	+	2	0	C15orf63	41880656	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.847000	0.92166	2.324000	0.78689	0.533000	0.62120	GAG		0.493	HYPK-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133876.3	NM_016400		16	83	0	0	0	0.069288	0	16	83					G	44093364	A	G	44093364	3	3	230	1	0	0	0	0	1	0	0	0	1809	304	11	3	227	3	C15orf63	15	44093364	Missense_Mutation	SNP	A	TCGA-EL-A3MY-01A-11D-A21A-08		44093364	58438028	23	4895											
CDH11	1009	broad.mit.edu	37	chr16	64984728	64984728	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcctgtgctcaggccggcGttcagaatgtaggcctctgc	14	13	3	1			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr16:64984728G>A	ENST00000268603.4	-	12	2451	c.1836C>T	c.(1834-1836)aaC>aaT	p.N612N	CDH11_ENST00000566827.1_Silent_p.N486N|CDH11_ENST00000394156.3_Silent_p.N612N	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	612	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)		TCAGGCCGGCGTTCAGAATGT	0.632			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.(1834-1836)aaC>aaT		cadherin 11, type 2, OB-cadherin (osteoblast)							91	69	77					16																	64984728		2203	4300	6503	SO:0001819	synonymous_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.chr16:64984728G>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.1836C>T	16.37:g.64984728G>A		TSP Lung(24;0.17)				CDH11_ENST00000268603.4_Silent_p.N612N|CDH11_ENST00000566827.1_Silent_p.N486N	p.N612N			P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	12	2289	-		Ovarian(137;0.0973)	612			Cadherin 5.		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	ENST00000268603.4	37	c.1836C>T	CCDS10803.1																																																																																				0.632	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		27	61	0	0	0	0.050027	0	27	61					A	64984728	G	A	64984728	2	1	230	1	0	0	0	0	0	0	0	1	3097	1136	40	1		1	CDH11	16	64984728	Silent	SNP	G	TCGA-EL-A3MY-01A-11D-A21A-08		64984728	25370025	24	4896											
ZNF207	7756	broad.mit.edu	37	chr17	30687706	30687706	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catttcagccacagcctgttCaacctcagcaaggttatatt	6	12	3	0			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr17:30687706C>A	ENST00000321233.6	+	4	551	c.397C>A	c.(397-399)Caa>Aaa	p.Q133K	ZNF207_ENST00000341711.6_Intron|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000394673.2_Missense_Mutation_p.Q133K|ZNF207_ENST00000342555.6_Missense_Mutation_p.Q136K|ZNF207_ENST00000577908.1_Missense_Mutation_p.Q133K|ZNF207_ENST00000394670.4_Missense_Mutation_p.Q133K	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	133					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)			ACAGCCTGTTCAACCTCAGCA	0.443																																						ENST00000394670.4																			0				breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10						c.(397-399)Caa>Aaa		zinc finger protein 207							69	60	63					17																	30687706		2203	4300	6503	SO:0001583	missense	7756					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:30687706C>A	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.397C>A	17.37:g.30687706C>A	ENSP00000322777:p.Gln133Lys					ZNF207_ENST00000577908.1_Missense_Mutation_p.Q133K|ZNF207_ENST00000321233.6_Missense_Mutation_p.Q133K|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000341711.6_Intron|ZNF207_ENST00000342555.6_Missense_Mutation_p.Q136K|ZNF207_ENST00000394673.2_Missense_Mutation_p.Q133K	p.Q133K	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		4	566	+		Breast(31;0.116)|Ovarian(249;0.182)	133					A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	Missense_Mutation	SNP	ENST00000321233.6	37	c.397C>A	CCDS11271.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257355	0.39896	.	.	ENSG00000010244	ENST00000394670;ENST00000394673;ENST00000394679;ENST00000321233;ENST00000342555	T;T;T;T	0.45668	0.9;0.89;0.92;0.97	5.27	5.27	0.74061	.	0.113306	0.64402	D	0.000009	T	0.43567	0.1253	M	0.70595	2.14	0.80722	D	1	P;P;P;P;P	0.45474	0.859;0.859;0.859;0.859;0.859	B;B;B;B;B	0.42030	0.373;0.373;0.373;0.373;0.373	T	0.47935	-0.9078	10	0.05959	T	0.93	.	18.8845	0.92370	0.0:1.0:0.0:0.0	.	133;136;133;133;133	A8MTG3;Q59G94;E1P660;O43670-2;O43670	.;.;.;.;ZN207_HUMAN	K	133;133;136;133;133	ENSP00000378165:Q133K;ENSP00000378168:Q133K;ENSP00000322777:Q133K;ENSP00000340029:Q133K	ENSP00000322777:Q133K	Q	+	1	0	ZNF207	27711819	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.731000	0.68554	2.463000	0.83235	0.655000	0.94253	CAA		0.443	ZNF207-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256251.2			4	61	1	0	0.014758	0.014758	0.0157	4	61					A	30687706	C	A	30687706	3	1	230	1	0	0	0	0	1	0	0	0	17762	827	29	4	411	4	ZNF207	17	30687706	Missense_Mutation	SNP	C	TCGA-EL-A3MY-01A-11D-A21A-08		30687706	50507504	25	4897											
ECSIT	51295	broad.mit.edu	37	chr19	11618821	11618821	+	Frame_Shift_Del	DEL	G	G	-													cttacctacgatgtggggctGggggggatctgctgcacctg							TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr19:11618821delG	ENST00000270517.7	-	5	916	c.781delC	c.(781-783)cagfs	p.Q261fs	ECSIT_ENST00000252440.7_Frame_Shift_Del_p.Q261fs|CTC-398G3.6_ENST00000585656.1_5'Flank|ZNF653_ENST00000293771.5_5'Flank|ZNF653_ENST00000593191.1_5'Flank|ECSIT_ENST00000591104.1_Frame_Shift_Del_p.Q261fs|ECSIT_ENST00000588998.1_Frame_Shift_Del_p.Q47fs|ECSIT_ENST00000591352.1_5'UTR|ECSIT_ENST00000417981.2_Frame_Shift_Del_p.Q47fs|ECSIT_ENST00000592312.1_Frame_Shift_Del_p.Q145fs	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	261					BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						ATGTGGGGCTGGGGGGGATCT	0.582																																						ENST00000270517.7																			0				kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						c.(781-783)agfs		ECSIT signalling integrator							93	102	99					19																	11618821		2203	4300	6503	SO:0001589	frameshift_variant	51295				innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding	g.chr19:11618821delG	BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"Mitochondrial respiratory chain complex assembly factors"	29548	protein-coding gene	gene with protein product	"signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"	608388	"ECSIT homolog (Drosophila)"			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.781delC	19.37:g.11618821delG	ENSP00000270517:p.Gln261fs					ECSIT_ENST00000591352.1_5'UTR|ECSIT_ENST00000592312.1_Frame_Shift_Del_p.Q145fs|ECSIT_ENST00000417981.2_Frame_Shift_Del_p.Q47fs|ECSIT_ENST00000591104.1_Frame_Shift_Del_p.Q261fs|ECSIT_ENST00000588998.1_Frame_Shift_Del_p.Q47fs|ECSIT_ENST00000252440.7_Frame_Shift_Del_p.Q261fs	p.Q261fs	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN			5	916	-			261					E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Frame_Shift_Del	DEL	ENST00000270517.7	37	c.781delC	CCDS12262.1																																																																																				0.582	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442603.2	NM_016581		7	244						7	244	---	---	---	---	-	11618821	G	-	11618821	7	5	230	1	0	1	0	1	0	0	0	0	4900	1357	47	0	530	0	ECSIT	19	11618821	Frame_Shift_Del	DEL	G	TCGA-EL-A3MY-01A-11D-A21A-08		11618821	47510162	26	4898											
CACNA1A	773	broad.mit.edu	37	chr19	13565980	13565980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctgctccagtgcgaggaCgatgcaattcgctatgatgg	13	9	0	1			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr19:13565980C>T	ENST00000360228.5	-	2	339	c.340G>A	c.(340-342)Gtc>Atc	p.V114I	CACNA1A_ENST00000573710.2_Missense_Mutation_p.V114I	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	114					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	AGTGCGAGGACGATGCAATTC	0.453																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(340-342)Gtc>Atc		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						193	193	193					19																	13565980		2042	4220	6262	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13565980C>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.340G>A	19.37:g.13565980C>T	ENSP00000353362:p.Val114Ile					CACNA1A_ENST00000573710.2_Missense_Mutation_p.V114I	p.V114I	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		2	339	-			114					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.340G>A	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	32	5.112780	0.94339	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	T	0.71222	-0.55	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000009	D	0.84678	0.5525	M	0.80422	2.495	0.53688	D	0.999977	D;D	0.76494	0.999;0.999	D;D	0.72982	0.972;0.979	D	0.86819	0.2003	10	0.72032	D	0.01	.	17.4452	0.87577	0.0:1.0:0.0:0.0	.	114;114	O00555;Q9NS88	CAC1A_HUMAN;.	I	114	ENSP00000353362:V114I	ENSP00000317661:V114I	V	-	1	0	CACNA1A	13426980	1.000000	0.71417	0.996000	0.52242	0.859000	0.49053	7.684000	0.84104	2.489000	0.83994	0.655000	0.94253	GTC		0.453	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		64	185	0	0	0	0.048971	0	64	185					T	13565980	C	T	13565980	3	4	230	1	0	0	0	0	1	0	0	0	2538	536	19	1	7478	1	CACNA1A	19	13565980	Missense_Mutation	SNP	C	TCGA-EL-A3MY-01A-11D-A21A-08	1947159	13565980	45563003	27	4899											
KCNN4	3783	broad.mit.edu	37	chr19	44284861	44284861	+	Frame_Shift_Del	DEL	C	C	-													catgccccactcaccgagcaCcccccgaaccacagcatctc							TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr19:44284861delC	ENST00000262888.3	-	1	548	c.153delG	c.(151-153)gggfs	p.G51fs		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	51					calcium ion transport (GO:0006816)|cell volume homeostasis (GO:0006884)|defense response (GO:0006952)|immune system process (GO:0002376)|phospholipid translocation (GO:0045332)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell receptor signaling pathway (GO:0050862)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|saliva secretion (GO:0046541)|stabilization of membrane potential (GO:0030322)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|Intermediate conductance calcium-activated potassium channel activity (GO:0022894)|protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Enflurane(DB00228)|Halothane(DB01159)|Miconazole(DB01110)|Procaine(DB00721)|Quinine(DB00468)	TCACCGAGCACCCCCCGAACC	0.652																																						ENST00000262888.3																			0				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(151-153)ggfs		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)						127	113	117					19																	44284861		2203	4300	6503	SO:0001589	frameshift_variant	3783				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding	g.chr19:44284861delC	AF022797	CCDS12630.1	19q13.2	2012-07-05				ENSG00000104783		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6293	protein-coding gene	gene with protein product		602754				9380751, 9407042, 16382103	Standard	NM_002250		Approved	KCa3.1, hSK4, hKCa4, hIKCa1	uc002oxl.3	O15554		ENST00000262888.3:c.153delG	19.37:g.44284861delC	ENSP00000262888:p.Gly51fs						p.G51fs	NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN			1	548	-		Prostate(69;0.0352)	51					Q53XR4	Frame_Shift_Del	DEL	ENST00000262888.3	37	c.153delG	CCDS12630.1																																																																																				0.652	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463598.1	NM_002250		8	271						8	271	---	---	---	---	-	44284861	C	-	44284861	7	5	230	1	0	1	0	1	0	0	0	0	8081	494	18	0	1162	0	KCNN4	19	44284861	Frame_Shift_Del	DEL	C	TCGA-EL-A3MY-01A-11D-A21A-08	30718881	44284861	14844122	28	4900											
USP9X	8239	broad.mit.edu	37	chrX	41043681	41043682	+	Frame_Shift_Ins	INS	-	-	A													ttgttaatgcctgctggtgcINSacctctggctgatgattcct							TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chrX:41043681_41043682insA	ENST00000324545.8	+	23	3944_3945	c.3311_3312insA	c.(3310-3315)gcacctfs	p.P1105fs	USP9X_ENST00000378308.2_Frame_Shift_Ins_p.P1105fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1105					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CCTGCTGGTGCACCTCTGGCTG	0.401																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(3310-3312)gccfs		ubiquitin specific peptidase 9, X-linked																																				SO:0001589	frameshift_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41043681_41043682insA	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.3312dupA	X.37:g.41043682_41043682dupA	ENSP00000316357:p.Pro1105fs					USP9X_ENST00000378308.2_Frame_Shift_Ins_p.A1104fs	p.A1104fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			23	3944_3945	+			1104					O75550|Q8WWT3|Q8WX12	Frame_Shift_Ins	INS	ENST00000324545.8	37	c.3311_3312insA	CCDS43930.1																																																																																				0.401	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		20	41						20	41	---	---	---	---	A	41043682	-	A	41043681	7	5	230	1	0	1	1	0	0	0	0	0	17087	710	25	0	3397	0	USP9X	23	41043681	Frame_Shift_Ins	INS	-	TCGA-EL-A3MY-01A-11D-A21A-08		41043681	114226879	29	4901											
MAGEC1	9947	broad.mit.edu	37	chrX	140995008	140995008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcagggggaggactccatGtctcctctctactttcctca	8	15	4	0			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chrX:140995008G>A	ENST00000285879.4	+	4	2104	c.1818G>A	c.(1816-1818)atG>atA	p.M606I	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	606										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTCCATGTCTCCTCTCT	0.572										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1816-1818)atG>atA		melanoma antigen family C, 1							199	211	207					X																	140995008		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140995008G>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1818G>A	X.37:g.140995008G>A	ENSP00000285879:p.Met606Ile	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.M606I	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2104	+	Acute lymphoblastic leukemia(192;6.56e-05)		606					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.1818G>A	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	g	6.161	0.397887	0.11696	.	.	ENSG00000155495	ENST00000285879	T	0.01998	4.51	0.96	0.96	0.19631	.	.	.	.	.	T	0.01387	0.0045	N	0.08118	0	0.09310	N	1	B	0.15719	0.014	B	0.13407	0.009	T	0.47497	-0.9113	9	0.87932	D	0	.	3.8603	0.08993	0.3268:0.0:0.6732:0.0	.	606	O60732	MAGC1_HUMAN	I	606	ENSP00000285879:M606I	ENSP00000285879:M606I	M	+	3	0	MAGEC1	140822674	0.004000	0.15560	0.007000	0.13788	0.007000	0.05969	0.801000	0.27055	0.187000	0.20147	0.190000	0.17370	ATG		0.572	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		5	218	0	0	0	0.014758	0	5	218					A	140995008	G	A	140995008	3	1	230	1	0	0	0	0	1	0	0	0	9180	1377	48	2	1824	2	MAGEC1	23	140995008	Missense_Mutation	SNP	G	TCGA-EL-A3MY-01A-11D-A21A-08	99951327	140995008	14275552	30	4902											
KTI12	112970	broad.mit.edu	37	chr1	52499143	52499143	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcagagcggggtgcgcgcCgcccgtgccaggcagtagag	19	12	0	2			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:52499143C>A	ENST00000371614.1	-	1	345	c.291G>T	c.(289-291)gcG>gcT	p.A97A	TXNDC12_ENST00000371626.4_Intron|RP11-91A18.4_ENST00000425802.1_RNA	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	97							ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						GGGTGCGCGCCGCCCGTGCCA	0.672																																						ENST00000371614.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						c.(289-291)gcG>gcT		KTI12 homolog, chromatin associated (S. cerevisiae)							57	63	61					1																	52499143		2203	4300	6503	SO:0001819	synonymous_variant	112970						ATP binding	g.chr1:52499143C>A		CCDS562.1	1p32.3	2008-02-05			ENSG00000198841	ENSG00000198841			25160	protein-coding gene	gene with protein product						11929532	Standard	NM_138417		Approved	TOT4, MGC20419, SBBI81	uc001ctj.1	Q96EK9	OTTHUMG00000008630	ENST00000371614.1:c.291G>T	1.37:g.52499143C>A						TXNDC12_ENST00000472624.1_Intron|RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000371626.4_Intron	p.A97A	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN			1	345	-			97						Silent	SNP	ENST00000371614.1	37	c.291G>T	CCDS562.1																																																																																				0.672	KTI12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023821.1	NM_138417		4	157	1	0	0.0293803	0.02938	0.0309267	4	157					A	52499143	C	A	52499143	2	1	231	1	0	0	0	0	0	0	0	1	8584	639	23	4		4	KTI12	1	52499143	Silent	SNP	C	TCGA-EL-A3MZ-01A-11D-A21A-08		52499143	196751478	1	4903											
PALMD	54873	broad.mit.edu	37	chr1	100154340	100154340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcttaacagctttatatgCcatggaaattaaagttgaaa	6	5	1	1			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:100154340C>T	ENST00000263174.4	+	7	899	c.524C>T	c.(523-525)gCc>gTc	p.A175V	PALMD_ENST00000605497.1_Missense_Mutation_p.A175V	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	175					regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		GCTTTATATGCCATGGAAATT	0.299																																						ENST00000263174.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31						c.(523-525)gCc>gTc		palmdelphin							49	56	54					1																	100154340		2199	4299	6498	SO:0001583	missense	54873				regulation of cell shape	cytoplasm|membrane		g.chr1:100154340C>T	AJ312214	CCDS758.1	1p22-p21	2008-07-18			ENSG00000099260	ENSG00000099260			15846	protein-coding gene	gene with protein product		610182		C1orf11		11478809	Standard	NM_017734		Approved	FLJ20271, PALML	uc001dsg.3	Q9NP74	OTTHUMG00000010764	ENST00000263174.4:c.524C>T	1.37:g.100154340C>T	ENSP00000263174:p.Ala175Val					PALMD_ENST00000605497.1_Missense_Mutation_p.A175V	p.A175V	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)	7	899	+		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)	175					Q9H7E6|Q9NPM5|Q9NPM6|Q9NPS0	Missense_Mutation	SNP	ENST00000263174.4	37	c.524C>T	CCDS758.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.122609	0.77436	.	.	ENSG00000099260	ENST00000263174	T	0.25749	1.78	5.59	5.59	0.84812	.	0.165900	0.52532	D	0.000069	T	0.40546	0.1121	M	0.70275	2.135	0.49299	D	0.999775	P;P	0.52692	0.955;0.944	P;P	0.57204	0.815;0.719	T	0.31223	-0.9951	10	0.87932	D	0	-6.0025	19.6045	0.95575	0.0:1.0:0.0:0.0	.	175;95	Q9NP74;Q9NP74-2	PALMD_HUMAN;.	V	175	ENSP00000263174:A175V	ENSP00000263174:A175V	A	+	2	0	PALMD	99926928	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.094000	0.64523	2.620000	0.88729	0.563000	0.77884	GCC		0.299	PALMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029672.1	NM_017734		18	49	0	0	0	0.055883	0	18	49					T	100154340	C	T	100154340	3	4	231	1	0	0	0	0	1	0	0	0	11411	739	26	2	550	2	PALMD	1	100154340	Missense_Mutation	SNP	C	TCGA-EL-A3MZ-01A-11D-A21A-08	47655197	100154340	149096281	2	4904											
AKNAD1	254268	broad.mit.edu	37	chr1	109394761	109394761	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgctgttttcaccatcccTtttcgggttgagttggtcag	10	9	2	1			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:109394761T>C	ENST00000370001.3	-	2	794	c.526A>G	c.(526-528)Agg>Ggg	p.R176G	AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369995.3_Missense_Mutation_p.R176G|AKNAD1_ENST00000369994.1_Missense_Mutation_p.R176G	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	176						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TCACCATCCCTTTTCGGGTTG	0.423																																						ENST00000370001.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						c.(526-528)Agg>Ggg		AKNA domain containing 1							62	64	64					1																	109394761		2202	4296	6498	SO:0001583	missense	254268							g.chr1:109394761T>C	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 62"	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.526A>G	1.37:g.109394761T>C	ENSP00000359018:p.Arg176Gly					AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369994.1_Missense_Mutation_p.R176G|AKNAD1_ENST00000369995.3_Missense_Mutation_p.R176G	p.R176G	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN			2	794	-			176					B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	c.526A>G	CCDS791.2	.	.	.	.	.	.	.	.	.	.	T	11.29	1.595772	0.28445	.	.	ENSG00000162641	ENST00000370001;ENST00000369994;ENST00000369995	T;T;T	0.08546	3.1;3.13;3.08	5.77	3.48	0.39840	.	1.154570	0.06009	N	0.649165	T	0.03053	0.0090	L	0.44542	1.39	0.09310	N	0.999992	B	0.09022	0.002	B	0.04013	0.001	T	0.45264	-0.9273	10	0.36615	T	0.2	0.1509	9.7276	0.40342	0.0:0.141:0.0:0.859	.	176	Q5T1N1	AKND1_HUMAN	G	176	ENSP00000359018:R176G;ENSP00000359011:R176G;ENSP00000359012:R176G	ENSP00000359011:R176G	R	-	1	2	AKNAD1	109196284	0.040000	0.19996	0.001000	0.08648	0.017000	0.09413	1.687000	0.37680	0.468000	0.27243	0.533000	0.62120	AGG		0.423	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		3	109	0	0	0	0.009096	0	3	109					C	109394761	T	C	109394761	3	2	231	1	0	0	0	0	1	0	0	0	464	1608	56	3	2044	3	AKNAD1	1	109394761	Missense_Mutation	SNP	T	TCGA-EL-A3MZ-01A-11D-A21A-08	9240421	109394761	139855860	3	4905											
PIAS3	10401	broad.mit.edu	37	chr1	145578441	145578441	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgaaaccattgcccttctAtgaagtctatggggagctca	9	10	3	2			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:145578441A>G	ENST00000393045.2	+	2	494	c.404A>G	c.(403-405)tAt>tGt	p.Y135C	PIAS3_ENST00000369299.3_Missense_Mutation_p.Y126C|PIAS3_ENST00000369298.1_Missense_Mutation_p.Y100C	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	135	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTGCCCTTCTATGAAGTCTAT	0.582																																						ENST00000393045.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.(403-405)tAt>tGt		protein inhibitor of activated STAT, 3							111	112	112					1																	145578441		2203	4300	6503	SO:0001583	missense	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145578441A>G	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"Zinc fingers, MIZ-type"	16861	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 5"	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.404A>G	1.37:g.145578441A>G	ENSP00000376765:p.Tyr135Cys					PIAS3_ENST00000369298.1_Missense_Mutation_p.Y100C|PIAS3_ENST00000369299.3_Missense_Mutation_p.Y126C	p.Y135C	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN			2	494	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		135			PINIT.		Q9UFI3	Missense_Mutation	SNP	ENST00000393045.2	37	c.404A>G	CCDS920.2	.	.	.	.	.	.	.	.	.	.	A	19.01	3.743814	0.69418	.	.	ENSG00000131788	ENST00000393046;ENST00000369299;ENST00000393045;ENST00000369298	T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51	3.79	3.79	0.43588	PINIT domain (1);	0.159499	0.28895	N	0.013785	T	0.79616	0.4476	M	0.82323	2.585	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.82676	-0.0339	10	0.87932	D	0	-6.7353	10.545	0.45056	1.0:0.0:0.0:0.0	.	126;135	F8WA94;Q9Y6X2	.;PIAS3_HUMAN	C	126;126;135;100	ENSP00000376766:Y126C;ENSP00000358305:Y126C;ENSP00000376765:Y135C;ENSP00000358304:Y100C	ENSP00000358304:Y100C	Y	+	2	0	PIAS3	144289798	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.131000	0.94446	1.584000	0.49913	0.459000	0.35465	TAT		0.582	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		19	219	0	0	0	0.030593	0	19	219					G	145578441	A	G	145578441	3	3	231	1	0	0	0	0	1	0	0	0	11877	449	16	3	410	3	PIAS3	1	145578441	Missense_Mutation	SNP	A	TCGA-EL-A3MZ-01A-11D-A21A-08	36183680	145578441	103672180	4	4906											
SEMA6C	10500	broad.mit.edu	37	chr1	151105171	151105171	+	Frame_Shift_Del	DEL	G	G	-													ggactcgagtgagcagggcaGggggggcccggtggccggag							TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:151105171delG	ENST00000341697.3	-	19	4273	c.2582delC	c.(2581-2583)cctfs	p.P861fs	SEMA6C_ENST00000479820.1_Intron|RP11-68I18.10_ENST00000563624.1_RNA			Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	861					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAGCAGGGCAGGGGGGGCCCG	0.781																																						ENST00000341697.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(2581-2583)ctfs		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C							2	2	2					1																	151105171		1554	3144	4698	SO:0001589	frameshift_variant	10500					integral to membrane	receptor activity	g.chr1:151105171delG	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"Semaphorins"	10740	protein-coding gene	gene with protein product	"m-Sema Y2"	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.2582delC	1.37:g.151105171delG	ENSP00000344148:p.Pro861fs					SEMA6C_ENST00000479820.1_Intron	p.P861fs			Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		19	4273	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		861					D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Frame_Shift_Del	DEL	ENST00000341697.3	37	c.2582delC	CCDS984.1																																																																																				0.781	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		2	4						2	4	---	---	---	---	-	151105171	G	-	151105171	7	5	231	1	0	1	0	1	0	0	0	0	14041	1000	35	0	214	0	SEMA6C	1	151105171	Frame_Shift_Del	DEL	G	TCGA-EL-A3MZ-01A-11D-A21A-08	5526730	151105171	98145450	5	4907											
ARHGEF2	9181	broad.mit.edu	37	chr1	155932417	155932417	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaagcgtttgtctcgggcGtacagctccttatagagctt	12	9	1	1	rs370489054		TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:155932417G>A	ENST00000361247.4	-	9	1167	c.1068C>T	c.(1066-1068)taC>taT	p.Y356Y	ARHGEF2_ENST00000462460.2_Silent_p.Y401Y|ARHGEF2_ENST00000368316.1_Silent_p.Y328Y|ARHGEF2_ENST00000313695.7_Silent_p.Y328Y|ARHGEF2_ENST00000368315.4_Silent_p.Y357Y|ARHGEF2_ENST00000313667.4_Silent_p.Y355Y|ARHGEF2_ENST00000477754.2_Intron	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	356	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGTCTCGGGCGTACAGCTCCT	0.557																																					Melanoma(178;35 2768 6610 28839)	ENST00000368316.1																			0				breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40						c.(982-984)taC>taT		Rho/Rac guanine nucleotide exchange factor (GEF) 2		G	,,	1,4405	2.1+/-5.4	0,1,2202	87	88	88		1068,1065,984	-7.2	0.8	1		88	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	ARHGEF2	NM_001162383.1,NM_001162384.1,NM_004723.3	,,	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	,,	356/987,355/986,328/959	155932417	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	g.chr1:155932417G>A	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	682	protein-coding gene	gene with protein product		607560	"rho/rac guanine nucleotide exchange factor (GEF) 2"			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.1068C>T	1.37:g.155932417G>A						ARHGEF2_ENST00000368315.3_Silent_p.Y357Y|ARHGEF2_ENST00000361247.4_Silent_p.Y356Y|ARHGEF2_ENST00000313667.4_Silent_p.Y355Y|ARHGEF2_ENST00000313695.7_Silent_p.Y328Y	p.Y328Y			Q92974	ARHG2_HUMAN			13	1454	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		356			DH.		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Silent	SNP	ENST00000361247.4	37	c.984C>T	CCDS53376.1																																																																																				0.557	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		4	128	0	0	0	0.014758	0	4	128					A	155932417	G	A	155932417	2	1	231	1	0	0	0	0	0	0	0	1	903	1140	40	1		1	ARHGEF2	1	155932417	Silent	SNP	G	TCGA-EL-A3MZ-01A-11D-A21A-08	4827246	155932417	93318204	6	4908											
ATP1A4	480	broad.mit.edu	37	chr1	160124992	160124992	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccattctctgctttgtggCctacagcatccagatatatt	8	11	1	1			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:160124992C>T	ENST00000368081.4	+	3	836	c.365C>T	c.(364-366)gCc>gTc	p.A122V		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	122					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGCTTTGTGGCCTACAGCATC	0.517																																						ENST00000368081.4																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75						c.(364-366)gCc>gTc		ATPase, Na+/K+ transporting, alpha 4 polypeptide							63	58	60					1																	160124992		2203	4300	6503	SO:0001583	missense	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160124992C>T	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"ATPases / P-type"	14073	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-4", "sodium pump subunit alpha-4", "sodium-potassium ATPase catalytic subunit alpha-4"	607321	"ATPase, Na+/K+ transporting, alpha polypeptide-like 2"	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.365C>T	1.37:g.160124992C>T	ENSP00000357060:p.Ala122Val						p.A122V	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	836	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		122					Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	c.365C>T	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735462	0.49045	.	.	ENSG00000132681	ENST00000368081	D	0.93906	-3.31	4.25	4.25	0.50352	ATPase, P-type cation-transporter, N-terminal (1);	0.061528	0.64402	D	0.000006	D	0.96074	0.8721	M	0.90019	3.08	0.80722	D	1	D	0.71674	0.998	P	0.59546	0.859	D	0.96709	0.9524	10	0.87932	D	0	.	14.1868	0.65609	0.0:1.0:0.0:0.0	.	122	Q13733	AT1A4_HUMAN	V	122	ENSP00000357060:A122V	ENSP00000357060:A122V	A	+	2	0	ATP1A4	158391616	1.000000	0.71417	0.992000	0.48379	0.173000	0.22820	7.596000	0.82721	2.193000	0.70182	0.609000	0.83330	GCC		0.517	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		3	53	0	0	0	0.004672	0	3	53					T	160124992	C	T	160124992	3	4	231	1	0	0	0	0	1	0	0	0	1131	739	26	2	375	2	ATP1A4	1	160124992	Missense_Mutation	SNP	C	TCGA-EL-A3MZ-01A-11D-A21A-08	4192575	160124992	89125629	7	4909											
OLFML2B	25903	broad.mit.edu	37	chr1	161953593	161953593	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgaacagcagcctggggaCgatctgtgtgttggtgtggg	17	8	1	0			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:161953593C>T	ENST00000294794.3	-	8	2548	c.2125G>A	c.(2125-2127)Gtc>Atc	p.V709I	OLFML2B_ENST00000367938.1_Missense_Mutation_p.V192I|OLFML2B_ENST00000367940.2_Missense_Mutation_p.V710I	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	709	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			AGCCTGGGGACGATCTGTGTG	0.547																																						ENST00000294794.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2125-2127)Gtc>Atc		olfactomedin-like 2B							393	365	374					1																	161953593		2203	4300	6503	SO:0001583	missense	25903							g.chr1:161953593C>T	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.2125G>A	1.37:g.161953593C>T	ENSP00000294794:p.Val709Ile					OLFML2B_ENST00000367938.1_Missense_Mutation_p.V192I|OLFML2B_ENST00000367940.2_Missense_Mutation_p.V710I	p.V709I	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		8	2548	-	all_hematologic(112;0.156)		709			Olfactomedin-like.		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	c.2125G>A	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	C	8.987	0.976689	0.18812	.	.	ENSG00000162745	ENST00000294794;ENST00000367940;ENST00000367938	D;D;D	0.88818	-2.43;-2.43;-2.43	5.36	3.48	0.39840	Olfactomedin-like (3);	.	.	.	.	T	0.54647	0.1871	N	0.02674	-0.535	0.30311	N	0.788536	B;B	0.15930	0.015;0.009	B;B	0.15484	0.013;0.005	T	0.15037	-1.0451	8	0.20519	T	0.43	.	10.0257	0.42070	0.0:0.8331:0.0:0.1669	.	710;709	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	I	709;710;192	ENSP00000294794:V709I;ENSP00000356917:V710I;ENSP00000356915:V192I	ENSP00000294794:V709I	V	-	1	0	OLFML2B	160220217	1.000000	0.71417	0.979000	0.43373	0.877000	0.50540	1.335000	0.33839	0.626000	0.30322	0.561000	0.74099	GTC		0.547	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		7	565	0	0	0	0.038147	0	7	565					T	161953593	C	T	161953593	3	4	231	1	0	0	0	0	1	0	0	0	10858	536	19	1	131	1	OLFML2B	1	161953593	Missense_Mutation	SNP	C	TCGA-EL-A3MZ-01A-11D-A21A-08	1828601	161953593	87297028	8	4910											
PPP1R15B	84919	broad.mit.edu	37	chr1	204380470	204380470	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcgatcgccgagggaaaaAgggtggccagaaccggaagc	16	9	0	1			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:204380470A>G	ENST00000367188.4	-	1	449	c.70T>C	c.(70-72)Ttt>Ctt	p.F24L	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	24					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			CGAGGGAAAAAGGGTGGCCAG	0.627																																						ENST00000367188.4																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34						c.(70-72)Ttt>Ctt		protein phosphatase 1, regulatory subunit 15B							41	52	48					1																	204380470		2201	4299	6500	SO:0001583	missense	84919				regulation of translation			g.chr1:204380470A>G	AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14951	protein-coding gene	gene with protein product		613257	"protein phosphatase 1, regulatory (inhibitor) subunit 15B"			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.70T>C	1.37:g.204380470A>G	ENSP00000356156:p.Phe24Leu					RP11-739N20.2_ENST00000443515.1_RNA	p.F24L	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)		1	449	-	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		24					Q53GQ4|Q658M2|Q6P156|Q96SN1	Missense_Mutation	SNP	ENST00000367188.4	37	c.70T>C	CCDS1445.1	.	.	.	.	.	.	.	.	.	.	A	10.41	1.343788	0.24339	.	.	ENSG00000158615	ENST00000367188	T	0.24151	1.87	4.77	0.894	0.19242	Protein phosphatase 1, regulatory subunit 15B, N-terminal (1);	0.379360	0.19194	N	0.120358	T	0.14917	0.0360	L	0.29908	0.895	0.23568	N	0.997399	B	0.06786	0.001	B	0.06405	0.002	T	0.18587	-1.0332	10	0.33940	T	0.23	.	5.4501	0.16560	0.5687:0.3383:0.093:0.0	.	24	Q5SWA1	PR15B_HUMAN	L	24	ENSP00000356156:F24L	ENSP00000356156:F24L	F	-	1	0	PPP1R15B	202647093	0.000000	0.05858	0.048000	0.18961	0.007000	0.05969	-0.374000	0.07484	-0.059000	0.13154	-0.274000	0.10170	TTT		0.627	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1	NM_032833		3	134	0	0	0	0.004672	0	3	134					G	204380470	A	G	204380470	3	3	231	1	0	0	0	0	1	0	0	0	12364	72	3	3	2079	3	PPP1R15B	1	204380470	Missense_Mutation	SNP	A	TCGA-EL-A3MZ-01A-11D-A21A-08	42426877	204380470	44870151	9	4911											
OBSCN	84033	broad.mit.edu	37	chr1	228461984	228461984	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgtgtgcagaggtggtgtGgcgctgcggcaacacgcagc	18	10	0	1			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:228461984G>A	ENST00000422127.1	+	19	5566	c.5522G>A	c.(5521-5523)tGg>tAg	p.W1841*	OBSCN_ENST00000366707.4_5'UTR|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.W1841*|OBSCN_ENST00000366709.4_5'UTR|RP5-1139B12.3_ENST00000602947.1_RNA|OBSCN_ENST00000570156.2_Nonsense_Mutation_p.W2216*|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000359599.6_Nonsense_Mutation_p.W688*	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1841	Ig-like 18.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGGTGGTGTGGCGCTGCGGC	0.692																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(6646-6648)tGg>tAg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							54	65	61					1																	228461984		2190	4277	6467	SO:0001587	stop_gained	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228461984G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.5522G>A	1.37:g.228461984G>A	ENSP00000409493:p.Trp1841*					RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000422127.1_Nonsense_Mutation_p.W1841*|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Nonsense_Mutation_p.W688*|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.W1841*|OBSCN_ENST00000366707.4_5'UTR	p.W2216*	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			23	6721	+		Prostate(94;0.0405)	1199			Ig-like 22.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Nonsense_Mutation	SNP	ENST00000422127.1	37	c.6647G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	37	6.257981	0.97417	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	.	.	.	5.16	5.16	0.70880	.	0.082968	0.52532	D	0.000070	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3684	0.60698	0.0783:0.0:0.9217:0.0	.	.	.	.	X	1841;1841;688	.	ENSP00000284548:W1841X	W	+	2	0	OBSCN	226528607	1.000000	0.71417	1.000000	0.80357	0.356000	0.29392	7.326000	0.79133	2.582000	0.87167	0.555000	0.69702	TGG		0.692	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		4	169	0	0	0	0.021553	0	4	169					A	228461984	G	A	228461984	4	1	231	1	0	0	0	0	0	1	0	0	10812	1357	47	2	5592	2	OBSCN	1	228461984	Nonsense_Mutation	SNP	G	TCGA-EL-A3MZ-01A-11D-A21A-08	24081514	228461984	20788637	10	4912											
ZNF669	79862	broad.mit.edu	37	chr1	247267388	247267388	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagccccggctacgccacggCgactcggtccgcaggttccg	14	17	0	0			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:247267388C>A	ENST00000343381.6	-	1	286	c.114G>T	c.(112-114)tcG>tcT	p.S38S	ZNF669_ENST00000448299.2_Intron|ZNF669_ENST00000358785.4_Silent_p.S38S|ZNF669_ENST00000366501.1_Intron|ZNF669_ENST00000366500.1_Intron	NM_024804.2	NP_079080.2	Q96BR6	ZN669_HUMAN	zinc finger protein 669	38					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(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			TACGCCACGGCGACTCGGTCC	0.701																																						ENST00000343381.6																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17						c.(112-114)tcG>tcT		zinc finger protein 669							8	12	11					1																	247267388		2141	4252	6393	SO:0001819	synonymous_variant	79862				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:247267388C>A		CCDS31088.1, CCDS44345.1	1q44	2013-01-08			ENSG00000188295	ENSG00000188295		"Zinc fingers, C2H2-type", "-"	25736	protein-coding gene	gene with protein product						12477932	Standard	NM_024804		Approved	FLJ12606	uc001ice.2	Q96BR6	OTTHUMG00000040869	ENST00000343381.6:c.114G>T	1.37:g.247267388C>A						ZNF669_ENST00000366500.1_Intron|ZNF669_ENST00000448299.2_Intron|ZNF669_ENST00000358785.4_Silent_p.S38S|ZNF669_ENST00000366501.1_Intron	p.S38S	NM_024804.2	NP_079080.2	Q96BR6	ZN669_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00427)		1	286	-	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		38					B3KP94|Q5VT39|Q9H9Q6	Silent	SNP	ENST00000343381.6	37	c.114G>T	CCDS31088.1																																																																																				0.701	ZNF669-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000098394.4	NM_024804		4	12	1	0	0.00024832	0.009096	0.000266057	4	12					A	247267388	C	A	247267388	2	1	231	1	0	0	0	0	0	0	0	1	18073	755	27	4		4	ZNF669	1	247267388	Silent	SNP	C	TCGA-EL-A3MZ-01A-11D-A21A-08	18805404	247267388	1983233	11	4913											
AFF3	3899	broad.mit.edu	37	chr2	100623626	100623626	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacttgctctctgttggccGtcagagggtgggtgcccagc	14	11	2	1			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr2:100623626G>A	ENST00000409236.2	-	4	583	c.471C>T	c.(469-471)gaC>gaT	p.D157D	AFF3_ENST00000409579.1_Silent_p.D182D|AFF3_ENST00000356421.2_Silent_p.D182D|AFF3_ENST00000317233.4_Silent_p.D157D			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	157					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCTGTTGGCCGTCAGAGGGTG	0.498																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(469-471)gaC>gaT		AF4/FMR2 family, member 3							75	82	80					2																	100623626		2203	4300	6503	SO:0001819	synonymous_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100623626G>A	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.471C>T	2.37:g.100623626G>A						AFF3_ENST00000356421.2_Silent_p.D182D|AFF3_ENST00000409236.1_Silent_p.D157D|AFF3_ENST00000409579.1_Silent_p.D182D	p.D157D	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			5	706	-			157					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	c.471C>T	CCDS42723.1																																																																																				0.498	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		38	69	0	0	0	0.048971	0	38	69					A	100623626	G	A	100623626	2	1	231	1	0	0	0	0	0	0	0	1	358	1136	40	1		1	AFF3	2	100623626	Silent	SNP	G	TCGA-EL-A3MZ-01A-11D-A21A-08		100623626	142575747	12	4914											
SLC22A14	9389	broad.mit.edu	37	chr3	38357110	38357110	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	acagagctgaaatccatgacGatcttggtgctcatgctcag	10	10	3	3			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr3:38357110G>T	ENST00000273173.4	+	8	1531	c.1440G>T	c.(1438-1440)acG>acT	p.T480T	SLC22A14_ENST00000448498.1_Silent_p.T480T	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	480					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		AATCCATGACGATCTTGGTGC	0.592																																						ENST00000273173.4																			0				central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21						c.(1438-1440)acG>acT		solute carrier family 22, member 14							168	139	148					3																	38357110		2203	4300	6503	SO:0001819	synonymous_variant	9389					integral to plasma membrane	organic cation transmembrane transporter activity	g.chr3:38357110G>T	AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"Solute carriers"	8495	protein-coding gene	gene with protein product		604048	"organic cationic transporter-like 4", "solute carrier family 22 (organic cation transporter), member 14"	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.1440G>T	3.37:g.38357110G>T						SLC22A14_ENST00000448498.1_Silent_p.T480T	p.T480T	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)	8	1531	+			480					A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Silent	SNP	ENST00000273173.4	37	c.1440G>T	CCDS2677.1																																																																																				0.592	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253742.3	NM_004803		74	133	1	0	7.2426e-40	0.048971	8.19917e-40	74	133					T	38357110	G	T	38357110	2	4	231	1	0	0	0	0	0	0	0	1	14445	1045	37	4		4	SLC22A14	3	38357110	Silent	SNP	G	TCGA-EL-A3MZ-01A-11D-A21A-08		38357110	159665320	13	4915											
ACVR2B	93	broad.mit.edu	37	chr3	38523689	38523689	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctcctctgtcctcacatagGtaggcacgagacggtacatg	10	13	2	1			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr3:38523689G>C	ENST00000352511.4	+	9	1547	c.1075G>C	c.(1075-1077)Gta>Cta	p.V359L		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	359	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|determination of left/right symmetry (GO:0007368)|embryonic foregut morphogenesis (GO:0048617)|gastrulation with mouth forming second (GO:0001702)|heart development (GO:0007507)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm development (GO:0007498)|odontogenesis of dentin-containing tooth (GO:0042475)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|venous blood vessel development (GO:0060841)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		CCTCACATAGGTAGGCACGAG	0.562																																						ENST00000352511.3																			0				lung(1)	1						c.e9-1		activin A receptor, type IIB							89	72	77					3																	38523689		2203	4300	6503	SO:0001630	splice_region_variant	93				activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr3:38523689G>C	X77533	CCDS2679.1	3p22	2006-11-06			ENSG00000114739	ENSG00000114739			174	protein-coding gene	gene with protein product		602730				8161782, 9621519	Standard	NM_001106		Approved	ActR-IIB	uc003cif.3	Q13705	OTTHUMG00000131291	ENST00000352511.4:c.1075-1G>C	3.37:g.38523689G>C							p.V359_splice	NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)	9	1547	+	Medulloblastoma(35;0.163)		359			Protein kinase.		Q4VAV0	Splice_Site	SNP	ENST00000352511.4	37	c.1074_splice	CCDS2679.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867236	0.72065	.	.	ENSG00000114739	ENST00000352511	T	0.69561	-0.41	5.58	5.58	0.84498	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.70325	0.3211	M	0.66560	2.04	0.80722	D	1	P	0.46277	0.875	B	0.44133	0.442	T	0.70854	-0.4759	9	.	.	.	.	19.5661	0.95393	0.0:0.0:1.0:0.0	.	359	Q13705	AVR2B_HUMAN	L	359	ENSP00000340361:V359L	.	V	+	1	0	ACVR2B	38498693	1.000000	0.71417	0.999000	0.59377	0.492000	0.33523	9.752000	0.98900	2.617000	0.88574	0.563000	0.77884	GTA		0.562	ACVR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254059.3	NM_001106	Missense_Mutation	26	70	0	0	0	0.050027	0	26	70					C	38523689	G	C	38523689	5	2	231	1	0	0	0	0	0	0	1	0	224	1275	44	4	1109	4	ACVR2B	3	38523689	Splice_Site	SNP	G	TCGA-EL-A3MZ-01A-11D-A21A-08	166579	38523689	159498741	14	4916											
UQCRC1	7384	broad.mit.edu	37	chr3	48637950	48637950	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccagggcatttctgaggatgTttttgccccgggccacctca	11	13	2	1			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr3:48637950T>A	ENST00000203407.5	-	10	1594	c.1178A>T	c.(1177-1179)aAc>aTc	p.N393I		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	393					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to alkaloid (GO:0043279)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCTGAGGATGTTTTTGCCCCG	0.567																																					NSCLC(81;1112 1427 27031 32409 45529)	ENST00000203407.5																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16						c.(1177-1179)aAc>aTc		ubiquinol-cytochrome c reductase core protein I	Atovaquone(DB01117)						95	84	88					3																	48637950		2203	4300	6503	SO:0001583	missense	7384				aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding	g.chr3:48637950T>A	BC009586	CCDS2774.1	3p21	2011-07-04			ENSG00000010256	ENSG00000010256	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	12585	protein-coding gene	gene with protein product		191328				8407948	Standard	NM_003365		Approved	D3S3191, QCR1, UQCR1	uc003cub.1	P31930	OTTHUMG00000133539	ENST00000203407.5:c.1178A>T	3.37:g.48637950T>A	ENSP00000203407:p.Asn393Ile						p.N393I	NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	10	1594	-			393					B2R7R8|Q96DD2	Missense_Mutation	SNP	ENST00000203407.5	37	c.1178A>T	CCDS2774.1	.	.	.	.	.	.	.	.	.	.	T	29.3	4.990791	0.93106	.	.	ENSG00000010256	ENST00000203407	T	0.09817	2.94	5.81	5.81	0.92471	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.35740	0.0942	M	0.79614	2.46	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.996;1.0	T	0.08576	-1.0715	10	0.59425	D	0.04	-41.7776	16.1641	0.81743	0.0:0.0:0.0:1.0	.	278;393	B4DUL5;P31930	.;QCR1_HUMAN	I	393	ENSP00000203407:N393I	ENSP00000203407:N393I	N	-	2	0	UQCRC1	48612954	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.181000	0.71988	2.225000	0.72522	0.379000	0.24179	AAC		0.567	UQCRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257517.1	NM_003365		33	57	0	0	0	0.042209	0	33	57					A	48637950	T	A	48637950	3	1	231	1	0	0	0	0	1	0	0	0	17016	1725	60	5	280	5	UQCRC1	3	48637950	Missense_Mutation	SNP	T	TCGA-EL-A3MZ-01A-11D-A21A-08	10114261	48637950	149384480	15	4917											
KPNA1	3836	broad.mit.edu	37	chr3	122168506	122168506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatctgatagatatgagaGggcccagcaggcatcagcca	11	11	2	3			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr3:122168506G>A	ENST00000344337.6	-	9	1008	c.832C>T	c.(832-834)Ctc>Ttc	p.L278F	KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	278	Binding to RAG1.				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		AGATATGAGAGGGCCCAGCAG	0.433																																					Melanoma(12;340 801 11196 19797)	ENST00000344337.6																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21						c.(832-834)Ctc>Ttc		karyopherin alpha 1 (importin alpha 5)							79	75	76					3																	122168506		2203	4300	6503	SO:0001583	missense	3836				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr3:122168506G>A	S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"Importins", "Armadillo repeat containing"	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.832C>T	3.37:g.122168506G>A	ENSP00000343701:p.Leu278Phe					KPNA1_ENST00000466923.1_5'UTR	p.L278F	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN		GBM - Glioblastoma multiforme(114;0.0898)	9	1008	-			278			Binding to RAG1.		D3DN93|Q6IBQ9|Q9BQ56	Missense_Mutation	SNP	ENST00000344337.6	37	c.832C>T	CCDS3013.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221700	0.79464	.	.	ENSG00000114030	ENST00000344337;ENST00000465882	D;D	0.85629	-2.01;-2.01	5.1	5.1	0.69264	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.90861	0.7129	M	0.74389	2.26	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.91102	0.4915	10	0.72032	D	0.01	-8.0799	10.9074	0.47088	0.0936:0.0:0.9064:0.0	.	278	P52294	IMA1_HUMAN	F	278	ENSP00000343701:L278F;ENSP00000419890:L278F	ENSP00000343701:L278F	L	-	1	0	KPNA1	123651196	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.325000	0.52030	2.644000	0.89710	0.563000	0.77884	CTC		0.433	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355740.1	NM_002264		3	94	0	0	0	0.004672	0	3	94					A	122168506	G	A	122168506	3	1	231	1	0	0	0	0	1	0	0	0	8429	1000	35	2	808	2	KPNA1	3	122168506	Missense_Mutation	SNP	G	TCGA-EL-A3MZ-01A-11D-A21A-08	73530556	122168506	75853924	16	4918											
YTHDC1	91746	broad.mit.edu	37	chr4	69197877	69197877	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actctttatgaggaaaaatcTtgcatcttgaagcacatatt	6	7	3	2			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr4:69197877T>C	ENST00000344157.4	-	7	1401	c.1066A>G	c.(1066-1068)Aga>Gga	p.R356G	YTHDC1_ENST00000579690.1_Missense_Mutation_p.R356G|YTHDC1_ENST00000355665.3_Missense_Mutation_p.R338G	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	356	YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.				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						AGGAAAAATCTTGCATCTTGA	0.343																																						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.(1066-1068)Aga>Gga		YTH domain containing 1							117	109	112					4																	69197877		2203	4300	6503	SO:0001583	missense	91746							g.chr4:69197877T>C	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.1066A>G	4.37:g.69197877T>C	ENSP00000339245:p.Arg356Gly					YTHDC1_ENST00000579690.1_Missense_Mutation_p.R356G|YTHDC1_ENST00000355665.3_Missense_Mutation_p.R338G	p.R356G	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN			7	1401	-			356			YTH.		Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	ENST00000344157.4	37	c.1066A>G	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	T	13.38	2.220858	0.39201	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.37584	1.19;1.19	5.37	5.37	0.77165	YTH domain (2);	0.000000	0.85682	D	0.000000	T	0.68449	0.3002	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	0.983;1.0	D;D	0.83275	0.981;0.996	T	0.77135	-0.2699	10	0.87932	D	0	.	12.7796	0.57469	0.0:0.0:0.1363:0.8637	.	338;356	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	G	356;338	ENSP00000339245:R356G;ENSP00000347888:R338G	ENSP00000339245:R356G	R	-	1	2	YTHDC1	68880472	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.576000	0.53878	2.155000	0.67459	0.528000	0.53228	AGA		0.343	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		21	73	0	0	0	0.01892	0	21	73					C	69197877	T	C	69197877	3	2	231	1	0	0	0	0	1	0	0	0	17493	1617	56	3	1161	3	YTHDC1	4	69197877	Missense_Mutation	SNP	T	TCGA-EL-A3MZ-01A-11D-A21A-08		69197877	121956399	17	4919											
LEF1	51176	broad.mit.edu	37	chr4	109088756	109088756	+	Frame_Shift_Del	DEL	G	G	-													atttcagactcgttcaccaaGgaagacttgatgtcagctaa							TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr4:109088756delG	ENST00000265165.1	-	1	822	c.168delC	c.(166-168)tccfs	p.S56fs	LEF1_ENST00000379951.2_Frame_Shift_Del_p.S56fs|LEF1_ENST00000510624.1_5'Flank|LEF1_ENST00000512172.1_5'Flank|LEF1_ENST00000438313.2_Frame_Shift_Del_p.S56fs|LEF1-AS1_ENST00000436413.1_RNA	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	56	CTNNB1-binding. {ECO:0000250}.				alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		CGTTCACCAAGGAAGACTTGA	0.577																																						ENST00000379951.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25						c.(166-168)tcfs		lymphoid enhancer-binding factor 1							159	146	150					4																	109088756		2203	4300	6503	SO:0001589	frameshift_variant	51176				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr4:109088756delG		CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.168delC	4.37:g.109088756delG	ENSP00000265165:p.Ser56fs					LEF1_ENST00000265165.1_Frame_Shift_Del_p.S56fs|LEF1_ENST00000438313.2_Frame_Shift_Del_p.S56fs|LEF1-AS1_ENST00000436413.1_RNA	p.S56fs	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000224)	1	1356	-			56			CTNNB1-binding (By similarity).		B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Frame_Shift_Del	DEL	ENST00000265165.1	37	c.168delC	CCDS3679.1																																																																																				0.577	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254749.2			7	225						7	225	---	---	---	---	-	109088756	G	-	109088756	7	5	231	1	0	1	0	1	0	0	0	0	8714	987	35	0	1172	0	LEF1	4	109088756	Frame_Shift_Del	DEL	G	TCGA-EL-A3MZ-01A-11D-A21A-08	39890879	109088756	82065520	18	4920											
TERT	7015	broad.mit.edu	37	chr5	1293592	1293592	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctgggggcaccagccggCgcaggcaggcccgcacgaag	18	15	0	0			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr5:1293592C>T	ENST00000310581.5	-	2	1466	c.1409G>A	c.(1408-1410)cGc>cAc	p.R470H	TERT_ENST00000334602.6_Missense_Mutation_p.R470H|TERT_ENST00000296820.5_Missense_Mutation_p.R470H|TERT_ENST00000508104.2_Missense_Mutation_p.R470H|TERT_ENST00000522877.1_5'Flank	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	470	QFP motif.|RNA-interacting domain 2.|Required for oligomerization.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	CACCAGCCGGCGCAGGCAGGC	0.687									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													ENST00000310581.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41						c.(1408-1410)cGc>cAc		telomerase reverse transcriptase							14	16	15					5																	1293592		2173	4287	6460	SO:0001583	missense	0	TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1293592C>T	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.1409G>A	5.37:g.1293592C>T	ENSP00000309572:p.Arg470His					TERT_ENST00000508104.2_Missense_Mutation_p.R470H|TERT_ENST00000296820.5_Missense_Mutation_p.R470H|TERT_ENST00000334602.6_Missense_Mutation_p.R470H	p.R470H	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		2	1466	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		470			QFP motif.|RNA-interacting domain 2.|Required for oligomerization.		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	c.1409G>A	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	C	3.136	-0.177311	0.06380	.	.	ENSG00000164362	ENST00000310581;ENST00000296820;ENST00000334602;ENST00000508104	D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15	4.46	-0.392	0.12442	Telomerase ribonucleoprotein complex - RNA-binding domain (2);	1.488820	0.03441	N	0.209276	T	0.79997	0.4543	L	0.31926	0.97	0.09310	N	1	B;B;B	0.14438	0.002;0.01;0.003	B;B;B	0.12156	0.001;0.007;0.001	T	0.62737	-0.6791	10	0.45353	T	0.12	-11.5511	4.3911	0.11341	0.1758:0.1758:0.0:0.6484	.	470;470;470	O14746-3;O14746;Q8NG38	.;TERT_HUMAN;.	H	470	ENSP00000309572:R470H;ENSP00000296820:R470H;ENSP00000334346:R470H;ENSP00000426042:R470H	ENSP00000296820:R470H	R	-	2	0	TERT	1346592	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	0.010000	0.13242	-0.021000	0.14009	-0.321000	0.08615	CGC		0.687	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			5	7	0	0	0	0.02938	0	5	7					T	1293592	C	T	1293592	3	4	231	1	0	0	0	0	1	0	0	0	15761	768	27	1	2049	1	TERT	5	1293592	Missense_Mutation	SNP	C	TCGA-EL-A3MZ-01A-11D-A21A-08		1293592	179621668	19	4921											
MTMR12	54545	broad.mit.edu	37	chr5	32243628	32243630	+	Splice_Site	DEL	TGA	TGA	-													aaacaatggtttgaaataccTgattatgtcaagccagctgc							TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr5:32243628_32243630delTGA	ENST00000382142.3	-	11	1267_1269	c.1097_1099delTCA	c.(1096-1101)atcaga>aga	p.I366del	MTMR12_ENST00000264934.5_Splice_Site_p.I366del|MTMR12_ENST00000280285.5_Splice_Site_p.I366del	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	366	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TTGAAATACCTGATTATGTCAAG	0.315																																						ENST00000382142.3																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.e11+1		myotubularin related protein 12																																				SO:0001630	splice_region_variant	54545					cytoplasm	phosphatase activity	g.chr5:32243628_32243630delTGA	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	18191	protein-coding gene	gene with protein product		606501	"phosphatidylinositol-3-phosphate associated protein"	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.1100+1TCA>-	5.37:g.32243628_32243630delTGA						MTMR12_ENST00000280285.5_Splice_Site_p.IR366_splice|MTMR12_ENST00000264934.5_Splice_Site_p.IR366_splice	p.IR366_splice	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN			11	1267_1269	-			366			Myotubularin phosphatase.		Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Splice_Site	DEL	ENST00000382142.3	37	c.1100_splice	CCDS34138.1																																																																																				0.315	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061	In_Frame_Del	19	95						19	95	---	---	---	---	-	32243630	TGA	-	32243628	8	5	231	1	0	1	0	1	0	0	1	0	9941	1594	55	0	1168	0	MTMR12	5	32243628	Splice_Site	DEL	TGA	TCGA-EL-A3MZ-01A-11D-A21A-08	30950036	32243628	148671632	20	4922											
IGF2R	3482	broad.mit.edu	37	chr6	160464296	160464296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaaggcacgagggtgtcccGaggacgcggcagtgtgtgca	18	10	0	0			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr6:160464296G>A	ENST00000356956.1	+	12	1745	c.1597G>A	c.(1597-1599)Gag>Aag	p.E533K		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	533					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	AGGGTGTCCCGAGGACGCGGC	0.493																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(1597-1599)Gag>Aag		insulin-like growth factor 2 receptor							129	121	124					6																	160464296		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160464296G>A	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.1597G>A	6.37:g.160464296G>A	ENSP00000349437:p.Glu533Lys						p.E533K	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	12	1745	+		Breast(66;0.000777)|Ovarian(120;0.0305)	533					Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.1597G>A	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.435154	0.43224	.	.	ENSG00000197081	ENST00000356956	T	0.03635	3.86	5.52	2.79	0.32731	Mannose-6-phosphate receptor, binding (1);	0.341501	0.33199	N	0.005179	T	0.02012	0.0063	M	0.84948	2.725	0.09310	N	0.999996	B	0.23377	0.084	B	0.17979	0.02	T	0.44997	-0.9291	10	0.25751	T	0.34	-16.9673	7.2416	0.26100	0.1937:0.1256:0.6806:0.0	.	533	P11717	MPRI_HUMAN	K	533	ENSP00000349437:E533K	ENSP00000349437:E533K	E	+	1	0	IGF2R	160384286	0.981000	0.34729	0.005000	0.12908	0.012000	0.07955	3.982000	0.56909	0.302000	0.22762	0.655000	0.94253	GAG		0.493	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		60	133	0	0	0	0.048971	0	60	133					A	160464296	G	A	160464296	3	1	231	1	0	0	0	0	1	0	0	0	7576	1059	37	1	1643	1	IGF2R	6	160464296	Missense_Mutation	SNP	G	TCGA-EL-A3MZ-01A-11D-A21A-08		160464296	10650771	21	4923											
PTCD1	26024	broad.mit.edu	37	chr7	99032844	99032844	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgggccctggcgaacagtcGagcgagtctcacgaagtcca	14	13	1	0	rs138103080		TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr7:99032844G>A	ENST00000292478.4	-	2	272	c.22C>T	c.(22-24)Cga>Tga	p.R8*	ATP5J2-PTCD1_ENST00000437572.1_5'UTR|PTCD1_ENST00000485746.1_5'Flank|ATP5J2-PTCD1_ENST00000413834.1_Nonsense_Mutation_p.R57*|PTCD1_ENST00000555673.1_Nonsense_Mutation_p.R57*	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	8					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GCGAACAGTCGAGCGAGTCTC	0.567																																						ENST00000292478.4																			0				endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27						c.(22-24)Cga>Tga		pentatricopeptide repeat domain 1		G	stop/ARG,stop/ARG	0,4406		0,0,2203	54	60	58		169,22	3.9	0.0	7	dbSNP_134	58	1,8597	1.2+/-3.3	0,1,4298	no	stop-gained,stop-gained	PTCD1,ATP5J2-PTCD1	NM_001198879.1,NM_015545.3	,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,	57/750,8/701	99032844	1,13003	2203	4299	6502	SO:0001587	stop_gained	26024							g.chr7:99032844G>A	AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.22C>T	7.37:g.99032844G>A	ENSP00000292478:p.Arg8*					PTCD1_ENST00000555673.1_Nonsense_Mutation_p.R57*|ATP5J2-PTCD1_ENST00000413834.1_Nonsense_Mutation_p.R57*	p.R8*	NM_015545.3	NP_056360.2			STAD - Stomach adenocarcinoma(171;0.215)		2	272	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)							Q3ZB78|Q66K60|Q9UDV2	Nonsense_Mutation	SNP	ENST00000292478.4	37	c.22C>T	CCDS34691.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.323073	0.24080	0.0	1.16E-4	ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000248919	ENST00000292478;ENST00000555673;ENST00000430982;ENST00000430029;ENST00000419981;ENST00000437572;ENST00000413834	.	.	.	5.69	3.88	0.44766	.	0.921067	0.09177	N	0.838055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-14.8697	11.8636	0.52480	0.0:0.1311:0.7324:0.1365	.	.	.	.	X	8;57;8;8;8;8;57	.	ENSP00000400168:R57X	R	-	1	2	ATP5J2-PTCD1;PTCD1	98870780	0.000000	0.05858	0.005000	0.12908	0.000000	0.00434	0.302000	0.19192	0.361000	0.24292	-2.689000	0.00140	CGA		0.567	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545		19	114	0	0	0	0.076483	0	19	114					A	99032844	G	A	99032844	4	1	231	1	0	0	0	0	0	1	0	0	12727	1066	37	1	2108	1	PTCD1	7	99032844	Nonsense_Mutation	SNP	G	TCGA-EL-A3MZ-01A-11D-A21A-08		99032844	60105819	22	4924											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		39	66	0	0	0	0.048971	0	39	66					T	140453136	A	T	140453136	3	4	231	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3MZ-01A-11D-A21A-08	41420292	140453136	18685527	23	4925											
C7orf33	202865	broad.mit.edu	37	chr7	148288066	148288066	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgaagagtgtccctggagaCttccaggcccccaatgtgaa	11	11	0	4			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr7:148288066C>A	ENST00000307003.2	+	1	410	c.49C>A	c.(49-51)Ctt>Att	p.L17I		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	17										central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TCCCTGGAGACTTCCAGGCCC	0.567																																						ENST00000307003.2																			0				central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14						c.(49-51)Ctt>Att		chromosome 7 open reading frame 33							61	60	61					7																	148288066		2203	4300	6503	SO:0001583	missense	202865							g.chr7:148288066C>A	BC021251	CCDS5890.1	7q36.1	2011-11-24			ENSG00000170279	ENSG00000170279			21724	protein-coding gene	gene with protein product							Standard	NM_145304		Approved		uc003wew.3	Q8WU49	OTTHUMG00000152756	ENST00000307003.2:c.49C>A	7.37:g.148288066C>A	ENSP00000304071:p.Leu17Ile						p.L17I	NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		1	410	+	Melanoma(164;0.15)		17						Missense_Mutation	SNP	ENST00000307003.2	37	c.49C>A	CCDS5890.1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.403520	0.25291	.	.	ENSG00000170279	ENST00000307003	.	.	.	3.44	-3.72	0.04411	.	.	.	.	.	T	0.15696	0.0378	N	0.14661	0.345	0.09310	N	1	P	0.46512	0.879	B	0.38755	0.281	T	0.24512	-1.0158	8	0.87932	D	0	.	10.182	0.42975	0.0:0.6825:0.0:0.3175	.	17	Q8WU49	CG033_HUMAN	I	17	.	ENSP00000304071:L17I	L	+	1	0	C7orf33	147918999	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-0.383000	0.07398	-0.562000	0.06086	0.467000	0.42956	CTT		0.567	C7orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327684.1	NM_145304		24	65	1	0	9.90768e-06	0.024334	1.08084e-05	24	65					A	148288066	C	A	148288066	3	1	231	1	0	0	0	0	1	0	0	0	2388	565	20	4	51	4	C7orf33	7	148288066	Missense_Mutation	SNP	C	TCGA-EL-A3MZ-01A-11D-A21A-08	7834930	148288066	10850597	24	4926											
AP3M2	10947	broad.mit.edu	37	chr8	42015502	42015514	+	Frame_Shift_Del	DEL	TAGTTGTGGTTTA	TAGTTGTGGTTTA	-													gccagtgatcaaagacaatgTagttgtggtttatgaggtat							TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr8:42015502_42015514delTAGTTGTGGTTTA	ENST00000518421.1	+	4	608_620	c.317_329delTAGTTGTGGTTTA	c.(316-330)gtagttgtggtttatfs	p.VVVVY106fs	AP3M2_ENST00000396926.3_Frame_Shift_Del_p.VVVVY106fs|AP3M2_ENST00000174653.3_Frame_Shift_Del_p.VVVVY106fs|AP3M2_ENST00000517922.1_Frame_Shift_Del_p.VVVVY106fs|AP3M2_ENST00000520685.1_Intron	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	106					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			AAAGACAATGTAGTTGTGGTTTATGAGGTATTG	0.376																																						ENST00000518421.1																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17						c.(316-330)gtfs		adaptor-related protein complex 3, mu 2 subunit																																				SO:0001589	frameshift_variant	10947				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus		g.chr8:42015502_42015514delTAGTTGTGGTTTA	D38293	CCDS6125.1	8p11.2	2008-07-07			ENSG00000070718	ENSG00000070718			570	protein-coding gene	gene with protein product		610469				7601449	Standard	NM_006803		Approved	CLA20, AP47B	uc003xoo.3	P53677	OTTHUMG00000164060	ENST00000518421.1:c.317_329delTAGTTGTGGTTTA	8.37:g.42015502_42015514delTAGTTGTGGTTTA	ENSP00000428787:p.Val106fs					AP3M2_ENST00000396926.3_Frame_Shift_Del_p.VVVVY106fs|AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000517922.1_Frame_Shift_Del_p.VVVVY106fs|AP3M2_ENST00000174653.3_Frame_Shift_Del_p.VVVVY106fs	p.VVVVY106fs	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		4	608_620	+	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	106					B2RCR0|D3DSY2|Q7Z472	Frame_Shift_Del	DEL	ENST00000518421.1	37	c.317_329delTAGTTGTGGTTTA	CCDS6125.1																																																																																				0.376	AP3M2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376996.1			17	196						17	196	---	---	---	---	-	42015514	TAGTTGTGGTTTA	-	42015502	7	5	231	1	0	1	0	1	0	0	0	0	748	1638	57	0	323	0	AP3M2	8	42015502	Frame_Shift_Del	DEL	TAGTTGTGGTTTA	TCGA-EL-A3MZ-01A-11D-A21A-08		42015502	104348520	25	4927											
RBM12B	389677	broad.mit.edu	37	chr8	94747584	94747584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaattggatcaatatgaactGgacgatattgtaaaacagtc	8	5	1	1			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr8:94747584G>A	ENST00000399300.2	-	3	1268	c.1055C>T	c.(1054-1056)cCa>cTa	p.P352L	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.P352L	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	352	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			AATATGAACTGGACGATATTG	0.363																																						ENST00000399300.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(1054-1056)cCa>cTa		RNA binding motif protein 12B							94	91	92					8																	94747584		1849	4091	5940	SO:0001583	missense	389677						nucleotide binding|RNA binding	g.chr8:94747584G>A		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"RNA binding motif (RRM) containing"	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.1055C>T	8.37:g.94747584G>A	ENSP00000382239:p.Pro352Leu					RBM12B_ENST00000517700.1_Missense_Mutation_p.P352L|RBM12B_ENST00000520961.1_Intron	p.P352L	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	1268	-	Breast(36;4.14e-07)		352			RRM 2.		A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.1055C>T	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	G	8.188	0.795403	0.16327	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.08370	3.1;3.1	5.26	4.33	0.51752	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.183144	0.39020	N	0.001486	T	0.13072	0.0317	L	0.40543	1.245	0.37015	D	0.895919	D	0.57257	0.979	P	0.54759	0.76	T	0.16041	-1.0416	10	0.14656	T	0.56	-14.8186	13.833	0.63393	0.0:0.0:0.7058:0.2942	.	352	Q8IXT5	RB12B_HUMAN	L	352	ENSP00000382239:P352L;ENSP00000427729:P352L	ENSP00000382239:P352L	P	-	2	0	RBM12B	94816760	0.941000	0.31946	1.000000	0.80357	0.975000	0.68041	1.579000	0.36536	2.614000	0.88457	0.591000	0.81541	CCA		0.363	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		18	42	0	0	0	0.043863	0	18	42					A	94747584	G	A	94747584	3	1	231	1	0	0	0	0	1	0	0	0	13114	1348	47	2	1954	2	RBM12B	8	94747584	Missense_Mutation	SNP	G	TCGA-EL-A3MZ-01A-11D-A21A-08	52732082	94747584	51616438	26	4928											
C10orf140	387640	broad.mit.edu	37	chr10	21805720	21805720	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtggtggtggtggtggtgAtggtggtggtggtggtggtg	26	0	0	1			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr10:21805720A>G	ENST00000449193.2	-	4	3284	c.1032T>C	c.(1030-1032)caT>caC	p.H344H	SKIDA1_ENST00000444772.3_Silent_p.H265H|SKIDA1_ENST00000487107.1_5'Flank	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	263	Glu-rich.|Ser-rich.					nucleus (GO:0005634)											ggtggtggtgatggtggtggt	0.716																																						ENST00000449193.2																			0											c.(1030-1032)caT>caC		SKI/DACH domain containing 1							4	6	5					10																	21805720		1658	3602	5260	SO:0001819	synonymous_variant	387640							g.chr10:21805720A>G	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 140"	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1032T>C	10.37:g.21805720A>G						SKIDA1_ENST00000444772.3_Silent_p.H265H	p.H344H	NM_207371.3	NP_997254.3					4	3284	-								B1ANA5|Q6ZMX4|Q8N3C3	Silent	SNP	ENST00000449193.2	37	c.1032T>C	CCDS44363.1																																																																																				0.716	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		2	4	0	0	0	0.004672	0	2	4					G	21805720	A	G	21805720	2	3	231	1	0	0	0	0	0	0	0	1	1595	330	12	3		3	C10orf140	10	21805720	Silent	SNP	A	TCGA-EL-A3MZ-01A-11D-A21A-08		21805720	113729027	27	4929											
PHOX2A	401	broad.mit.edu	37	chr11	71950915	71950915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtagttcggccgctcccgCgccaggcccgccgcccccac	11	21	0	0			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr11:71950915C>T	ENST00000298231.5	-	3	904	c.733G>A	c.(733-735)Gcg>Acg	p.A245T	PHOX2A_ENST00000544057.1_5'UTR	NM_005169.3	NP_005160.2	O14813	PHX2A_HUMAN	paired-like homeobox 2a	245	Poly-Gly.				dopaminergic neuron differentiation (GO:0071542)|locus ceruleus development (GO:0021703)|midbrain development (GO:0030901)|noradrenergic neuron differentiation (GO:0003357)|oculomotor nerve formation (GO:0021623)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of respiratory gaseous exchange (GO:0043576)|somatic motor neuron differentiation (GO:0021523)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)|trochlear nerve formation (GO:0021642)	nuclear chromatin (GO:0000790)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	5						GCCGCTCCCGCGCCAGGCCCG	0.771																																						ENST00000298231.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	5						c.(733-735)Gcg>Acg		paired-like homeobox 2a							2	2	2					11																	71950915		1018	2484	3502	SO:0001583	missense	401				noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:71950915C>T	AF022722	CCDS8214.1	11q13.4	2014-09-04	2007-07-12	2003-02-14	ENSG00000165462	ENSG00000165462		"Homeoboxes / PRD class"	691	protein-coding gene	gene with protein product		602753	"aristaless (Drosophila) homeobox, aristaless homeobox (Drosophila), fibrosis of extraocular muscles, congenital, 2, autosomal recessive", "paired-like (aristaless) homeobox 2a"	ARIX, FEOM2		8661014, 11600883	Standard	NM_005169		Approved	PMX2A, CFEOM2	uc001osh.4	O14813	OTTHUMG00000167899	ENST00000298231.5:c.733G>A	11.37:g.71950915C>T	ENSP00000298231:p.Ala245Thr					PHOX2A_ENST00000544057.1_5'UTR	p.A245T	NM_005169.3	NP_005160.2	O14813	PHX2A_HUMAN			3	904	-			245			Poly-Gly.		A8K3N0|Q8IVZ2	Missense_Mutation	SNP	ENST00000298231.5	37	c.733G>A	CCDS8214.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	9.172|9.172	1.021274|1.021274	0.19433|0.19433	.|.	.|.	ENSG00000165462|ENSG00000165462	ENST00000298231|ENST00000546310	D|.	0.89810|.	-2.57|.	4.93|4.93	0.664|0.664	0.17890|0.17890	.|.	0.327791|.	0.22040|.	N|.	0.065465|.	T|T	0.09598|0.09598	0.0236|0.0236	N|N	0.03608|0.03608	-0.345|-0.345	0.23727|0.23727	N|N	0.997004|0.997004	B|.	0.21147|.	0.052|.	B|.	0.08055|.	0.003|.	T|T	0.27088|0.27088	-1.0084|-1.0084	10|5	0.16420|.	T|.	0.52|.	.|.	1.3349|1.3349	0.02142|0.02142	0.1383:0.3512:0.2698:0.2407|0.1383:0.3512:0.2698:0.2407	.|.	245|.	O14813|.	PHX2A_HUMAN|.	T|H	245|45	ENSP00000298231:A245T|.	ENSP00000298231:A245T|.	A|R	-|-	1|2	0|0	PHOX2A|PHOX2A	71628563|71628563	0.798000|0.798000	0.28890|0.28890	0.913000|0.913000	0.36048|0.36048	0.107000|0.107000	0.19398|0.19398	-0.188000|-0.188000	0.09642|0.09642	-0.149000|-0.149000	0.11215|0.11215	0.462000|0.462000	0.41574|0.41574	GCG|CGC		0.771	PHOX2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396885.1	NM_005169		3	8	0	0	0	0.004672	0	3	8					T	71950915	C	T	71950915	3	4	231	1	0	0	0	0	1	0	0	0	11858	768	27	1	125	1	PHOX2A	11	71950915	Missense_Mutation	SNP	C	TCGA-EL-A3MZ-01A-11D-A21A-08		71950915	63055601	28	4930											
RERGL	79785	broad.mit.edu	37	chr12	18237559	18237559	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caataacaaacccatctgccCagtgaagctcacttgtgagg	8	12	2	2			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr12:18237559C>T	ENST00000229002.2	-	5	433	c.227G>A	c.(226-228)tGg>tAg	p.W76*	RERGL_ENST00000536890.1_Intron|RERGL_ENST00000538724.1_Nonsense_Mutation_p.W75*|RERGL_ENST00000541632.1_5'UTR	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	76	Small GTPase-like.				GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						CCCATCTGCCCAGTGAAGCTC	0.398																																						ENST00000229002.2																			0				endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(226-228)tGg>tAg		RERG/RAS-like							135	129	131					12																	18237559		2203	4300	6503	SO:0001587	stop_gained	79785				signal transduction	membrane	GTP binding|GTPase activity	g.chr12:18237559C>T	AK026308	CCDS8679.1, CCDS66332.1	12p12.3	2014-08-12			ENSG00000111404	ENSG00000111404			26213	protein-coding gene	gene with protein product						24127187	Standard	NM_001286201		Approved	FLJ22655	uc001rdq.3	Q9H628	OTTHUMG00000168820	ENST00000229002.2:c.227G>A	12.37:g.18237559C>T	ENSP00000229002:p.Trp76*					RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000538724.1_Nonsense_Mutation_p.W75*|RERGL_ENST00000536890.1_Intron	p.W76*	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN			5	433	-			76			Small GTPase-like.			Nonsense_Mutation	SNP	ENST00000229002.2	37	c.227G>A	CCDS8679.1	.	.	.	.	.	.	.	.	.	.	C	37	6.332038	0.97480	.	.	ENSG00000111404	ENST00000229002;ENST00000538724	.	.	.	4.79	4.79	0.61399	.	0.057961	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	16.8961	0.86101	0.0:1.0:0.0:0.0	.	.	.	.	X	76;75	.	ENSP00000229002:W76X	W	-	2	0	RERGL	18128826	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.912000	0.75753	2.599000	0.87857	0.467000	0.42956	TGG		0.398	RERGL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401198.1	NM_024730		55	93	0	0	0	0.048971	0	55	93					T	18237559	C	T	18237559	4	4	231	1	0	0	0	0	0	1	0	0	13233	595	21	2	398	2	RERGL	12	18237559	Nonsense_Mutation	SNP	C	TCGA-EL-A3MZ-01A-11D-A21A-08		18237559	115614336	29	4931											
AQP5	362	broad.mit.edu	37	chr12	50357924	50357924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccgctcttttggccctgCggtggtcatgaatcggttca	12	12	3	1	rs117761535		TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr12:50357924C>T	ENST00000293599.6	+	3	726	c.578C>T	c.(577-579)gCg>gTg	p.A193V	RP11-469H8.6_ENST00000550214.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000552379.1_RNA	NM_001651.2	NP_001642.1	P55064	AQP5_HUMAN	aquaporin 5	193					camera-type eye morphogenesis (GO:0048593)|carbon dioxide transport (GO:0015670)|excretion (GO:0007588)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)			large_intestine(1)|lung(3)	4						TTTGGCCCTGCGGTGGTCATG	0.612													C|||	1	0.000199681	0	0	5008	,	,		18160	0.001		0	False		,,,				2504	0					ENST00000293599.6																			0				large_intestine(1)|lung(3)	4						c.(577-579)gCg>gTg		aquaporin 5		C	VAL/ALA	3,4403	6.2+/-15.9	0,3,2200	123	102	109		578	5.1	0.6	12	dbSNP_132	109	9,8591	7.1+/-27.0	0,9,4291	yes	missense	AQP5	NM_001651.2	64	0,12,6491	TT,TC,CC		0.1047,0.0681,0.0923	benign	193/266	50357924	12,12994	2203	4300	6503	SO:0001583	missense	362				carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion	apical plasma membrane|integral to plasma membrane	protein binding|water channel activity	g.chr12:50357924C>T	U46569	CCDS8793.1	12q13	2013-09-10				ENSG00000161798		"Ion channels / Aquaporins"	638	protein-coding gene	gene with protein product		600442				8621489, 23830519	Standard	NM_001651		Approved		uc001rvo.3	P55064	OTTHUMG00000169710	ENST00000293599.6:c.578C>T	12.37:g.50357924C>T	ENSP00000293599:p.Ala193Val						p.A193V	NM_001651.2	NP_001642.1	P55064	AQP5_HUMAN			3	726	+			193					Q6FGW8	Missense_Mutation	SNP	ENST00000293599.6	37	c.578C>T	CCDS8793.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.55	3.418038	0.62622	6.81E-4	0.001047	ENSG00000161798	ENST00000293599	D	0.94232	-3.38	5.07	5.07	0.68467	Aquaporin-like (2);	0.336630	0.24289	N	0.039838	D	0.97548	0.9197	H	0.97291	3.975	0.49798	D	0.99982	D	0.76494	0.999	P	0.58577	0.841	D	0.98776	1.0730	10	0.66056	D	0.02	-0.1821	16.3242	0.82965	0.0:1.0:0.0:0.0	.	193	P55064	AQP5_HUMAN	V	193	ENSP00000293599:A193V	ENSP00000293599:A193V	A	+	2	0	AQP5	48644191	1.000000	0.71417	0.626000	0.29213	0.305000	0.27757	6.635000	0.74295	2.518000	0.84900	0.655000	0.94253	GCG		0.612	AQP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405542.2	NM_001651		44	91	0	0	0	0.048971	0	44	91					T	50357924	C	T	50357924	3	4	231	1	0	0	0	0	1	0	0	0	829	768	27	1	588	1	AQP5	12	50357924	Missense_Mutation	SNP	C	TCGA-EL-A3MZ-01A-11D-A21A-08	32120365	50357924	83493971	30	4932											
SBNO1	55206	broad.mit.edu	37	chr12	123805012	123805012	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagggccaccaagttcatcGataagttcatccagggtatt	9	10	3	0	rs567091125		TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr12:123805012G>A	ENST00000602398.1	-	19	2761	c.2634C>T	c.(2632-2634)atC>atT	p.I878I	SBNO1_ENST00000267176.4_Silent_p.I877I|SBNO1_ENST00000420886.2_Silent_p.I878I|SBNO1_ENST00000602750.1_Silent_p.I877I			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	878					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CAAGTTCATCGATAAGTTCAT	0.438													G|||	1	0.000199681	0	0	5008	,	,		19543	0		0	False		,,,				2504	0.001					ENST00000420886.2																			0				NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(2632-2634)atC>atT		strawberry notch homolog 1 (Drosophila)							119	118	118					12																	123805012		2203	4300	6503	SO:0001819	synonymous_variant	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123805012G>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.2634C>T	12.37:g.123805012G>A						SBNO1_ENST00000602750.1_Silent_p.I877I|SBNO1_ENST00000602398.1_Silent_p.I878I|SBNO1_ENST00000267176.4_Silent_p.I877I	p.I878I	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	18	2633	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		878					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Silent	SNP	ENST00000602398.1	37	c.2634C>T	CCDS53844.1																																																																																				0.438	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		34	98	0	0	0	0.030466	0	34	98					A	123805012	G	A	123805012	2	1	231	1	0	0	0	0	0	0	0	1	13862	1048	37	1		1	SBNO1	12	123805012	Silent	SNP	G	TCGA-EL-A3MZ-01A-11D-A21A-08	73447088	123805012	10046883	31	4933											
THSD1	55901	broad.mit.edu	37	chr13	52971586	52971586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagtgaccactccttggaCgaaggtgcatggtggaggca	15	9	0	1	rs201109452		TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr13:52971586C>T	ENST00000258613.4	-	3	980	c.802G>A	c.(802-804)Gtc>Atc	p.V268I	RNY4P24_ENST00000362735.1_RNA|THSD1_ENST00000544466.1_Intron|THSD1_ENST00000349258.4_Missense_Mutation_p.V268I	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	268					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)		p.V268I(1)		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)		ACTCCTTGGACGAAGGTGCAT	0.562																																						ENST00000349258.4																			1	Substitution - Missense(1)	p.V268I(1)	endometrium(1)	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.(802-804)Gtc>Atc		thrombospondin, type I, domain containing 1		C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	74	72	72		802,802	4.9	0.0	13		72	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	THSD1	NM_018676.3,NM_199263.2	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	268/853,268/800	52971586	1,13005	2203	4300	6503	SO:0001583	missense	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52971586C>T	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.802G>A	13.37:g.52971586C>T	ENSP00000258613:p.Val268Ile					THSD1_ENST00000544466.1_Intron|THSD1_ENST00000258613.4_Missense_Mutation_p.V268I	p.V268I	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	3	1346	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	268					A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	c.802G>A	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	C	2.629	-0.286888	0.05605	0.0	1.16E-4	ENSG00000136114	ENST00000349258;ENST00000258613;ENST00000378095	T;T	0.16196	2.36;2.55	5.79	4.95	0.65309	.	0.299209	0.32736	N	0.005705	T	0.13500	0.0327	L	0.45137	1.4	0.25006	N	0.99143	P;B	0.39883	0.693;0.05	B;B	0.35182	0.197;0.004	T	0.15321	-1.0441	10	0.24483	T	0.36	-17.2921	10.4801	0.44689	0.0:0.8368:0.0:0.1632	.	268;268	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	I	268	ENSP00000340650:V268I;ENSP00000258613:V268I	ENSP00000258613:V268I	V	-	1	0	THSD1	51869587	0.942000	0.31987	0.018000	0.16275	0.007000	0.05969	2.020000	0.41010	1.455000	0.47813	-0.254000	0.11334	GTC		0.562	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			30	78	0	0	0	0.059317	0	30	78					T	52971586	C	T	52971586	3	4	231	1	0	0	0	0	1	0	0	0	15874	536	19	1	1768	1	THSD1	13	52971586	Missense_Mutation	SNP	C	TCGA-EL-A3MZ-01A-11D-A21A-08		52971586	62198292	32	4934											
C14orf106	55320	broad.mit.edu	37	chr14	45716018	45716019	+	Frame_Shift_Ins	INS	-	-	T													cataggtaggtatgctgcaaINStttttttttttcaactctgt					rs546807245	byFrequency	TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr14:45716018_45716019insT	ENST00000310806.4	-	2	929_930	c.471_472insA	c.(469-474)aaattgfs	p.L158fs		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	158					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.K157fs*24(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						GTATGCTGCAATTTTTTTTTTT	0.356													|||unknown(HR)	178	0.0355431	0.0628	0.0101	5008	,	,		17954	0.0169		0.0139	False		,,,				2504	0.0583					ENST00000310806.4																			1	Deletion - Frameshift(1)	p.K157fs*24(1)	ovary(1)	NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						c.(469-474)aatgcafs		MIS18 binding protein 1																																				SO:0001589	frameshift_variant	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45716018_45716019insT	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"kinetochore null 2 homolog (C. elegans)"		"chromosome 14 open reading frame 106"	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.472dupA	14.37:g.45716029_45716029dupT	ENSP00000309790:p.Leu158fs						p.NA157fs	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN			2	929_930	-			157					D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Frame_Shift_Ins	INS	ENST00000310806.4	37	c.471_472insA	CCDS9684.1																																																																																				0.356	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			7	74						7	74	---	---	---	---	T	45716019	-	T	45716018	7	5	231	1	0	1	1	0	0	0	0	0	1738	98	4	0	2990	0	C14orf106	14	45716018	Frame_Shift_Ins	INS	-	TCGA-EL-A3MZ-01A-11D-A21A-08		45716018	61633522	33	4935											
SEMA7A	8482	broad.mit.edu	37	chr15	74703138	74703138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcctcgcagaagtagtGgccgtactgctgcgccgtga	15	12	0	2			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr15:74703138G>A	ENST00000261918.4	-	14	2376	c.1828C>T	c.(1828-1830)Cac>Tac	p.H610Y	SEMA7A_ENST00000542748.1_Missense_Mutation_p.H445Y|SEMA7A_ENST00000543145.2_Missense_Mutation_p.H596Y	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	610	Ig-like C2-type.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						CAGAAGTAGTGGCCGTACTGC	0.637																																						ENST00000261918.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						c.(1828-1830)Cac>Tac		semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)							78	77	77					15																	74703138		2197	4296	6493	SO:0001583	missense	8482				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	g.chr15:74703138G>A	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"Semaphorins", "CD molecules", "Blood group antigens", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10741	protein-coding gene	gene with protein product	"John Milton Hagen blood group", "H-Sema K1"	607961	"sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A", "sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.1828C>T	15.37:g.74703138G>A	ENSP00000261918:p.His610Tyr					SEMA7A_ENST00000542748.1_Missense_Mutation_p.H445Y|SEMA7A_ENST00000543145.2_Missense_Mutation_p.H596Y	p.H610Y	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN			14	2376	-			610			Ig-like C2-type.		B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Missense_Mutation	SNP	ENST00000261918.4	37	c.1828C>T	CCDS10262.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939649	0.52972	.	.	ENSG00000138623	ENST00000261918;ENST00000543145;ENST00000542748	T;T;T	0.12465	2.68;2.68;2.68	4.55	4.55	0.56014	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.675957	0.14345	N	0.325483	T	0.12774	0.0310	L	0.47716	1.5	0.31959	N	0.608595	P;P	0.49862	0.912;0.929	B;P	0.44597	0.325;0.454	T	0.00615	-1.1643	10	0.02654	T	1	-33.8475	11.2779	0.49178	0.0:0.0:0.818:0.182	.	596;610	F5H1S0;O75326	.;SEM7A_HUMAN	Y	610;596;445	ENSP00000261918:H610Y;ENSP00000438966:H596Y;ENSP00000441493:H445Y	ENSP00000261918:H610Y	H	-	1	0	SEMA7A	72490191	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	1.945000	0.40273	2.094000	0.63399	0.555000	0.69702	CAC		0.637	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612		27	44	0	0	0	0.041601	0	27	44					A	74703138	G	A	74703138	3	1	231	1	0	0	0	0	1	0	0	0	14043	1348	47	2	176	2	SEMA7A	15	74703138	Missense_Mutation	SNP	G	TCGA-EL-A3MZ-01A-11D-A21A-08		74703138	27828254	34	4936											
NLRC3	197358	broad.mit.edu	37	chr16	3614041	3614041	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtcctcggggaacatctgCtccaaacacaccttgatctc	8	14	2	1			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr16:3614041C>T	ENST00000301749.7	-	0	1302				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGAACATCTGCTCCAAACACA	0.627																																						ENST00000301749.7																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34								NLR family, CARD domain containing 3							48	55	52					16																	3614041		2070	4205	6275			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3614041C>T	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3614041C>T						NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA		NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN			0	1302	-								Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	RNA	SNP	ENST00000301749.7	37																																																																																						0.627	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		5	78	0	0	0	0.021553	0	5	78					T	3614041	C	T	3614041	1	4	231	0	1	0	0	0	0	0	0	0	10468	796	28	2		2	NLRC3	16	3614041	RNA	SNP	C	TCGA-EL-A3MZ-01A-11D-A21A-08		3614041	86740712	35	4937											
NFAT5	10725	broad.mit.edu	37	chr16	69727910	69727910	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagcaagtaactctcttcttAtctccagcatccatgtctgc	5	14	4	0			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr16:69727910A>T	ENST00000354436.2	+	12	4446	c.4128A>T	c.(4126-4128)ttA>ttT	p.L1376F	NFAT5_ENST00000566899.1_Missense_Mutation_p.L1300F|NFAT5_ENST00000393742.2_Missense_Mutation_p.L1300F|NFAT5_ENST00000567239.1_Missense_Mutation_p.L1393F|NFAT5_ENST00000432919.1_Missense_Mutation_p.L1394F|NFAT5_ENST00000349945.1_Missense_Mutation_p.L1300F	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1376					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTCTCTTCTTATCTCCAGCAT	0.453																																						ENST00000349945.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3898-3900)ttA>ttT		nuclear factor of activated T-cells 5, tonicity-responsive							142	116	125					16																	69727910		2198	4300	6498	SO:0001583	missense	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69727910A>T	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"Nuclear factor of activated T-cells"	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.4128A>T	16.37:g.69727910A>T	ENSP00000346420:p.Leu1376Phe					NFAT5_ENST00000567239.1_Missense_Mutation_p.L1393F|NFAT5_ENST00000566899.1_Missense_Mutation_p.L1300F|NFAT5_ENST00000432919.1_Missense_Mutation_p.L1394F|NFAT5_ENST00000354436.2_Missense_Mutation_p.L1376F|NFAT5_ENST00000393742.2_Missense_Mutation_p.L1300F	p.L1300F	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			14	5452	+			1376					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	c.3900A>T	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	A	11.27	1.589633	0.28357	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.69	-1.49	0.08718	.	0.214986	0.43260	D	0.000598	T	0.27419	0.0673	L	0.34521	1.04	0.33012	D	0.527594	P;B;B	0.43477	0.808;0.435;0.435	B;B;B	0.32864	0.154;0.055;0.055	T	0.28808	-1.0032	10	0.54805	T	0.06	-1.9392	2.5239	0.04687	0.1281:0.371:0.3108:0.1902	.	1393;1376;1394	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	F	1394;1393;1300;1376;1300	ENSP00000396538:L1394F;ENSP00000338806:L1300F;ENSP00000346420:L1376F;ENSP00000377343:L1300F	ENSP00000338806:L1300F	L	+	3	2	NFAT5	68285411	0.961000	0.32948	0.966000	0.40874	0.978000	0.69477	-0.199000	0.09491	-0.513000	0.06496	-0.331000	0.08364	TTA		0.453	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		29	61	0	0	0	0.059317	0	29	61					T	69727910	A	T	69727910	3	4	231	1	0	0	0	0	1	0	0	0	10360	446	16	5	4232	5	NFAT5	16	69727910	Missense_Mutation	SNP	A	TCGA-EL-A3MZ-01A-11D-A21A-08	66113869	69727910	20626843	36	4938											
UBE2O	63893	broad.mit.edu	37	chr17	74398184	74398184	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacgtcgtagagcttggcGccatcttccgtgttcatgga	12	11	2	2	rs576442844		TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr17:74398184G>A	ENST00000319380.7	-	5	775	c.711C>T	c.(709-711)ggC>ggT	p.G237G	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	237					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						AGAGCTTGGCGCCATCTTCCG	0.552													G|||	1	0.000199681	0	0.0014	5008	,	,		16915	0		0	False		,,,				2504	0					ENST00000319380.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(709-711)ggC>ggT		ubiquitin-conjugating enzyme E2O							105	69	82					17																	74398184		2203	4300	6503	SO:0001819	synonymous_variant	63893						ATP binding|ubiquitin-protein ligase activity	g.chr17:74398184G>A	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.711C>T	17.37:g.74398184G>A							p.G237G	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN			5	775	-			237					A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Silent	SNP	ENST00000319380.7	37	c.711C>T	CCDS32742.1																																																																																				0.552	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		3	47	0	0	0	0.009096	0	3	47					A	74398184	G	A	74398184	2	1	231	1	0	0	0	0	0	0	0	1	16865	1074	38	1		1	UBE2O	17	74398184	Silent	SNP	G	TCGA-EL-A3MZ-01A-11D-A21A-08		74398184	6797026	37	4939											
ARID3A	1820	broad.mit.edu	37	chr19	929631	929631	+	Frame_Shift_Del	DEL	C	C	-													cccccgatccccctgctgcaCcccccggccgggcccgggct							TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr19:929631delC	ENST00000263620.3	+	2	430	c.103delC	c.(103-105)cccfs	p.P36fs	AC005391.2_ENST00000585647.1_RNA	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	36			P -> H (in dbSNP:rs17857499). {ECO:0000269|PubMed:15489334}.			cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		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)		CCCTGCTGCAccccccggccg	0.741																																					Pancreas(29;54 1022 32760 50921)	ENST00000263620.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10						c.(103-105)ccfs		AT rich interactive domain 3A (BRIGHT-like)							1	2	2					19																	929631		933	2429	3362	SO:0001589	frameshift_variant	1820					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:929631delC	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"-"	3031	protein-coding gene	gene with protein product		603265	"dead ringer-like 1 (Drosophila)", "AT rich interactive domain 3A (BRIGHT- like)"	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.103delC	19.37:g.929631delC	ENSP00000263620:p.Pro36fs						p.P36fs	NM_005224.2	NP_005215.1	Q99856	ARI3A_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)	2	430	+		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)	36		P -> H (in dbSNP:rs17857499).			Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Frame_Shift_Del	DEL	ENST00000263620.3	37	c.103delC	CCDS12050.1																																																																																				0.741	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		2	4						2	4	---	---	---	---	-	929631	C	-	929631	7	5	231	1	0	1	0	1	0	0	0	0	916	507	18	0	105	0	ARID3A	19	929631	Frame_Shift_Del	DEL	C	TCGA-EL-A3MZ-01A-11D-A21A-08		929631	58199352	38	4940											
DMRTC2	63946	broad.mit.edu	37	chr19	42351650	42351650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcaaccatggtgtcaccGcccatctcaagggccacaag	10	16	2	0			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr19:42351650G>A	ENST00000269945.3	+	2	205	c.154G>A	c.(154-156)Gcc>Acc	p.A52T	LYPD4_ENST00000330743.3_5'Flank|DMRTC2_ENST00000596827.1_Missense_Mutation_p.A52T|DMRTC2_ENST00000602098.1_3'UTR|LYPD4_ENST00000601246.1_5'Flank	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	52					male meiosis I (GO:0007141)|positive regulation of histone H3-K9 dimethylation (GO:1900111)|positive regulation of histone H3-K9 trimethylation (GO:1900114)|sex differentiation (GO:0007548)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|XY body (GO:0001741)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						TGGTGTCACCGCCCATCTCAA	0.617																																						ENST00000269945.3																			0				endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						c.(154-156)Gcc>Acc		DMRT-like family C2							78	69	72					19																	42351650		2203	4300	6503	SO:0001583	missense	63946				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr19:42351650G>A	AJ291669	CCDS33034.1	19q13.2	2008-07-16				ENSG00000142025			13911	protein-coding gene	gene with protein product		614806				11863363	Standard	NM_001040283		Approved		uc002ors.3	Q8IXT2		ENST00000269945.3:c.154G>A	19.37:g.42351650G>A	ENSP00000269945:p.Ala52Thr					DMRTC2_ENST00000602098.1_3'UTR|DMRTC2_ENST00000596827.1_Missense_Mutation_p.A52T	p.A52T	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN			2	205	+			52					Q8N6Q2|Q96M39|Q96SD4	Missense_Mutation	SNP	ENST00000269945.3	37	c.154G>A	CCDS33034.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.600590	0.46423	.	.	ENSG00000142025	ENST00000269945	.	.	.	4.54	4.54	0.55810	DM DNA-binding (6);	0.197463	0.32416	N	0.006134	T	0.50582	0.1624	N	0.05306	-0.075	0.36663	D	0.878074	D;D	0.89917	1.0;0.997	D;P	0.91635	0.999;0.813	T	0.61441	-0.7062	9	0.41790	T	0.15	-10.8185	13.5035	0.61471	0.0:0.0:1.0:0.0	.	52;52	B4DX56;Q8IXT2	.;DMRTD_HUMAN	T	52	.	ENSP00000269945:A52T	A	+	1	0	DMRTC2	47043490	1.000000	0.71417	0.997000	0.53966	0.693000	0.40251	3.550000	0.53691	2.472000	0.83506	0.561000	0.74099	GCC		0.617	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463045.1	NM_001040283		4	117	0	0	0	0.021553	0	4	117					A	42351650	G	A	42351650	3	1	231	1	0	0	0	0	1	0	0	0	4591	1087	38	1	156	1	DMRTC2	19	42351650	Missense_Mutation	SNP	G	TCGA-EL-A3MZ-01A-11D-A21A-08	41422019	42351650	16777333	39	4941											
SYNGR4	23546	broad.mit.edu	37	chr19	48869181	48869181	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcccaagaccatcacgcggGtcttcgaaggggtgaggccc	15	13	2	2			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr19:48869181G>T	ENST00000344846.2	+	2	332	c.82G>T	c.(82-84)Gtc>Ttc	p.V28F	TMEM143_ENST00000541566.1_5'Flank|TMEM143_ENST00000435956.3_5'Flank|TMEM143_ENST00000436660.2_5'Flank|TMEM143_ENST00000293261.3_5'Flank|TMEM143_ENST00000377431.2_5'Flank|TMEM143_ENST00000598012.1_5'Flank	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN	synaptogyrin 4	28	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		CATCACGCGGGTCTTCGAAGG	0.617																																						ENST00000344846.2																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10						c.(82-84)Gtc>Ttc		synaptogyrin 4							84	82	83					19																	48869181		2203	4300	6503	SO:0001583	missense	23546					integral to membrane		g.chr19:48869181G>T	AJ011733	CCDS12717.1	19q13.3	2008-07-04				ENSG00000105467			11502	protein-coding gene	gene with protein product		608373					Standard	NM_012451		Approved		uc002piz.3	O95473		ENST00000344846.2:c.82G>T	19.37:g.48869181G>T	ENSP00000344041:p.Val28Phe						p.V28F	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)	2	332	+		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	28			MARVEL.		Q3KP58	Missense_Mutation	SNP	ENST00000344846.2	37	c.82G>T	CCDS12717.1	.	.	.	.	.	.	.	.	.	.	G	7.134	0.580398	0.13686	.	.	ENSG00000105467	ENST00000344846	T	0.28255	1.62	4.92	2.77	0.32553	Marvel (1);MARVEL-like domain (1);	0.273852	0.34676	N	0.003778	T	0.18800	0.0451	N	0.25890	0.77	0.28370	N	0.920023	B	0.30211	0.273	B	0.29176	0.099	T	0.11518	-1.0584	10	0.42905	T	0.14	-15.8203	6.7547	0.23507	0.7631:0.1532:0.0837:0.0	.	28	O95473	SNG4_HUMAN	F	28	ENSP00000344041:V28F	ENSP00000344041:V28F	V	+	1	0	SYNGR4	53560993	0.998000	0.40836	0.764000	0.31436	0.006000	0.05464	0.572000	0.23684	0.293000	0.22520	-0.438000	0.05819	GTC		0.617	SYNGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465704.1			41	52	1	0	1.48734e-19	0.045515	1.6526e-19	41	52					T	48869181	G	T	48869181	3	4	231	1	0	0	0	0	1	0	0	0	15448	1261	44	4	84	4	SYNGR4	19	48869181	Missense_Mutation	SNP	G	TCGA-EL-A3MZ-01A-11D-A21A-08	6517531	48869181	10259802	40	4942											
PPP2R1A	5518	broad.mit.edu	37	chr19	52719042	52719042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtctgcagctccagaaagCagtggggcctgagatcacca	12	12	2	2			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr19:52719042C>T	ENST00000322088.6	+	7	876	c.818C>T	c.(817-819)gCa>gTa	p.A273V	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.A218V|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.A94V	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	273	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CTCCAGAAAGCAGTGGGGCCT	0.577			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"protein phosphatase 2, regulatory subunit A, alpha"			E			clear cell ovarian carcinoma		0				NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(817-819)gCa>gTa		protein phosphatase 2, regulatory subunit A, alpha							60	59	60					19																	52719042		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52719042C>T		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9302	protein-coding gene	gene with protein product	"protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A"	605983	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.818C>T	19.37:g.52719042C>T	ENSP00000324804:p.Ala273Val					PPP2R1A_ENST00000462990.1_Missense_Mutation_p.A94V|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.A218V	p.A273V	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	7	876	+			273			PP2A subunit B binding.|Polyoma small and medium T antigens Binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.818C>T	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.975313	0.74360	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.04234	3.67;3.67	4.67	4.67	0.58626	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000006	T	0.07818	0.0196	M	0.71581	2.175	0.80722	D	1	P;B;B	0.40144	0.704;0.012;0.012	B;B;B	0.33196	0.159;0.007;0.007	T	0.10753	-1.0616	10	0.49607	T	0.09	-6.7782	15.501	0.75698	0.0:1.0:0.0:0.0	.	218;273;273	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	V	263;193;273;218	ENSP00000324804:A273V;ENSP00000415067:A218V	ENSP00000324804:A273V	A	+	2	0	PPP2R1A	57410854	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.796000	0.75145	2.595000	0.87683	0.655000	0.94253	GCA		0.577	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		29	69	0	0	0	0.033182	0	29	69					T	52719042	C	T	52719042	3	4	231	1	0	0	0	0	1	0	0	0	12382	710	25	2	844	2	PPP2R1A	19	52719042	Missense_Mutation	SNP	C	TCGA-EL-A3MZ-01A-11D-A21A-08	3849861	52719042	6409941	41	4943											
HBXIP	10542	broad.mit.edu	37	chr1	110950445	110950445	+	5'Flank	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcctgacgaaggcttgggCtccccgcgcggtgaccgtcg	16	14	0	2			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr1:110950445C>T	ENST00000602318.1	-	0	0				LAMTOR5_ENST00000256644.4_Missense_Mutation_p.S15N|LAMTOR5-AS1_ENST00000608486.1_RNA|LAMTOR5_ENST00000474861.2_5'Flank|LAMTOR5-AS1_ENST00000608602.1_RNA|LAMTOR5-AS1_ENST00000587691.1_RNA|LAMTOR5-AS1_ENST00000608499.1_RNA|LAMTOR5-AS1_ENST00000590413.1_RNA|LAMTOR5-AS1_ENST00000609512.1_RNA|LAMTOR5-AS1_ENST00000457535.1_RNA|LAMTOR5-AS1_ENST00000608067.1_RNA|LAMTOR5_ENST00000483260.1_5'Flank|LAMTOR5-AS1_ENST00000609244.1_RNA|LAMTOR5-AS1_ENST00000590826.1_RNA|LAMTOR5-AS1_ENST00000610148.1_RNA|LAMTOR5-AS1_ENST00000598454.1_RNA|LAMTOR5-AS1_ENST00000608253.1_RNA|LAMTOR5_ENST00000602858.1_5'Flank|LAMTOR5-AS1_ENST00000609709.1_RNA			O43504	LTOR5_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 5						cellular response to amino acid stimulus (GO:0071230)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)|protein localization to lysosome (GO:0061462)|regulation of cell size (GO:0008361)|response to virus (GO:0009615)|viral genome replication (GO:0019079)	cytosol (GO:0005829)|lysosome (GO:0005764)|Ragulator complex (GO:0071986)											AAGGCTTGGGCTCCCCGCGCG	0.627																																						ENST00000256644.4																			0											c.(43-45)aGc>aAc		late endosomal/lysosomal adaptor, MAPK and MTOR activator 5							41	38	39					1																	110950445		2203	4300	6503	SO:0001631	upstream_gene_variant	10542							g.chr1:110950445C>T	AF029890	CCDS824.1	1p12	2012-09-24	2012-09-24	2012-09-24	ENSG00000134248	ENSG00000134248			17955	protein-coding gene	gene with protein product	"HBx-interacting protein", "hepatitis B virus x-interacting protein (9.6kD)"	608521	"hepatitis B virus x interacting protein"	HBXIP		9499022, 22980980	Standard	NM_006402		Approved	XIP, MGC71071	uc001dzr.3	O43504	OTTHUMG00000011568		1.37:g.110950445C>T	Exception_encountered					LAMTOR5-AS1_ENST00000590413.1_RNA|LAMTOR5-AS1_ENST00000457535.1_RNA	p.S15N	NM_006402.2	NP_006393.2					1	119	-								Q6IBD8	Missense_Mutation	SNP	ENST00000602318.1	37	c.44G>A		.	.	.	.	.	.	.	.	.	.	C	13.87	2.365096	0.41902	.	.	ENSG00000134248	ENST00000256644	.	.	.	2.11	-2.77	0.05877	.	.	.	.	.	T	0.07503	0.0189	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35201	-0.9798	4	.	.	.	.	3.7041	0.08394	0.0:0.2831:0.4145:0.3024	.	.	.	.	N	15	.	.	S	-	2	0	HBXIP	110751968	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.014000	0.12656	-0.748000	0.04753	-0.300000	0.09419	AGC		0.627	LAMTOR5-007	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467909.1	NM_006402		33	41	0	0	0	1	0	33	41					T	110950445	C	T	110950445	1	4	232	0	1	0	0	0	0	0	0	0	6988	797	28	2		2	HBXIP	1	110950445	5'Flank	SNP	C	TCGA-EL-A3N2-01A-11D-A20C-08		110950445	138300176	1	4944											
ITGAV	3685	broad.mit.edu	37	chr2	187532443	187532443	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccgattccaaactgggaGcacaaggagaaccctgagac	10	12	0	2			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr2:187532443G>A	ENST00000261023.3	+	24	2647	c.2373G>A	c.(2371-2373)gaG>gaA	p.E791E	ITGAV_ENST00000374907.3_Silent_p.E755E|ITGAV_ENST00000433736.2_Silent_p.E745E|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	791					angiogenesis (GO:0001525)|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)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	CAAACTGGGAGCACAAGGAGA	0.418																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(2371-2373)gaG>gaA		integrin, alpha V							147	141	143					2																	187532443		2203	4300	6503	SO:0001819	synonymous_variant	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187532443G>A		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"CD molecules", "Integrins"	6150	protein-coding gene	gene with protein product		193210	"antigen identified by monoclonal antibody L230", "vitronectin receptor", "integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.2373G>A	2.37:g.187532443G>A						ITGAV_ENST00000433736.2_Silent_p.E745E|ITGAV_ENST00000374907.3_Silent_p.E755E|AC017101.10_ENST00000453665.1_RNA	p.E791E	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	24	2647	+			791					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Silent	SNP	ENST00000261023.3	37	c.2373G>A	CCDS2292.1																																																																																				0.418	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		4	172	0	0	0	1	0	4	172					A	187532443	G	A	187532443	2	1	232	1	0	0	0	0	0	0	0	1	7888	962	34	2		2	ITGAV	2	187532443	Silent	SNP	G	TCGA-EL-A3N2-01A-11D-A20C-08		187532443	55666930	2	4945											
CACNA2D3	55799	broad.mit.edu	37	chr3	54919331	54919331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcatgacttagaacatcccGatgtgtccttggcagatgaa	10	9	0	4			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr3:54919331G>A	ENST00000474759.1	+	22	1984	c.1936G>A	c.(1936-1938)Gat>Aat	p.D646N	CACNA2D3_ENST00000415676.2_Missense_Mutation_p.D646N|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.D646N|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.D552N	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	646						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	AGAACATCCCGATGTGTCCTT	0.483																																						ENST00000474759.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59						c.(1936-1938)Gat>Aat		calcium channel, voltage-dependent, alpha 2/delta subunit 3							145	139	141					3																	54919331		1983	4152	6135	SO:0001583	missense	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:54919331G>A	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"Calcium channel subunits"	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.1936G>A	3.37:g.54919331G>A	ENSP00000419101:p.Asp646Asn					CACNA2D3_ENST00000288197.5_Missense_Mutation_p.D646N|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.D552N|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.D646N|CACNA2D3-AS1_ENST00000471265.1_RNA	p.D646N	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	22	1984	+			646					B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	ENST00000474759.1	37	c.1936G>A	CCDS54598.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660654	0.88154	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.50343	0.1610	L	0.57130	1.785	0.54753	D	0.999981	D	0.89917	1.0	D	0.85130	0.997	T	0.25847	-1.0120	10	0.08599	T	0.76	-17.8596	18.7597	0.91845	0.0:0.0:1.0:0.0	.	646	Q8IZS8	CA2D3_HUMAN	N	646;646;646;552;552	ENSP00000389506:D646N;ENSP00000419101:D646N;ENSP00000288197:D646N;ENSP00000417279:D552N	ENSP00000288197:D646N	D	+	1	0	CACNA2D3	54894371	1.000000	0.71417	0.924000	0.36721	0.757000	0.42996	8.830000	0.92063	2.873000	0.98535	0.561000	0.74099	GAT		0.483	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			50	86	0	0	0	1	0	50	86					A	54919331	G	A	54919331	3	1	232	1	0	0	0	0	1	0	0	0	2550	1058	37	1	2022	1	CACNA2D3	3	54919331	Missense_Mutation	SNP	G	TCGA-EL-A3N2-01A-11D-A20C-08		54919331	143103099	3	4946											
ZNF608	57507	broad.mit.edu	37	chr5	124079813	124079815	+	In_Frame_Del	DEL	CTC	CTC	-													ttcttgattcgcctgtggctCtcctcctcctcctcttcctt							TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr5:124079813_124079815delCTC	ENST00000306315.5	-	1	1303_1305	c.868_870delGAG	c.(868-870)gagdel	p.E290del	ZNF608_ENST00000504926.1_Intron	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	290							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)		GCCTGTGGCTCTCCTCCTCCTCC	0.522																																						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.(868-870)del		zinc finger protein 608																																				SO:0001651	inframe_deletion	57507					intracellular	zinc ion binding	g.chr5:124079813_124079815delCTC	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.868_870delGAG	5.37:g.124079822_124079824delCTC	ENSP00000307746:p.Glu290del					ZNF608_ENST00000504926.1_Intron	p.E290del	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)	1	1303_1305	-		all_cancers(142;0.186)|Prostate(80;0.081)	290					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	In_Frame_Del	DEL	ENST00000306315.5	37	c.868_870delGAG	CCDS34219.1																																																																																				0.522	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		7	402						7	402	---	---	---	---	-	124079815	CTC	-	124079813	7	5	232	1	0	1	0	1	0	0	0	0	18031	912	32	0	3704	0	ZNF608	5	124079813	In_Frame_Del	DEL	CTC	TCGA-EL-A3N2-01A-11D-A20C-08		124079813	56835447	4	4947											
BAZ1B	9031	broad.mit.edu	37	chr7	72861634	72861634	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatcttcttcctcctcctcCtcttcttcctcctcctcctc	0	21	4	0			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr7:72861634C>T	ENST00000339594.4	-	16	4142	c.3804G>A	c.(3802-3804)gaG>gaA	p.E1268E	BAZ1B_ENST00000404251.1_Silent_p.E1268E	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1268	Poly-Glu.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				cctcctcctcctcttcttcct	0.438																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	ENST00000339594.4																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(3802-3804)gaG>gaA		bromodomain adjacent to zinc finger domain, 1B							178	145	156					7																	72861634		2203	4300	6503	SO:0001819	synonymous_variant	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72861634C>T	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"Zinc fingers, PHD-type"	961	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 9", "Williams-Beuren syndrome chromosome region 10", "transcription factor WSTF"	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.3804G>A	7.37:g.72861634C>T						BAZ1B_ENST00000404251.1_Silent_p.E1268E	p.E1268E	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN			16	4142	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	1268			Poly-Glu.		B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Silent	SNP	ENST00000339594.4	37	c.3804G>A	CCDS5549.1																																																																																				0.438	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		4	109	0	0	0	1	0	4	109					T	72861634	C	T	72861634	2	4	232	1	0	0	0	0	0	0	0	1	1330	680	24	2		2	BAZ1B	7	72861634	Silent	SNP	C	TCGA-EL-A3N2-01A-11D-A20C-08		72861634	86277029	5	4948											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		37	57	0	0	0	1	0	37	57					T	140453136	A	T	140453136	3	4	232	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3N2-01A-11D-A20C-08	67591502	140453136	18685527	6	4949											
DLC1	10395	broad.mit.edu	37	chr8	12957624	12957624	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccgactggctgctgctgctgCtggtctgcgtggagttggaa	16	10	1	0			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr8:12957624C>G	ENST00000276297.4	-	9	2631	c.2222G>C	c.(2221-2223)aGc>aCc	p.S741T	DLC1_ENST00000520226.1_Missense_Mutation_p.S230T|DLC1_ENST00000512044.2_Missense_Mutation_p.S338T|DLC1_ENST00000358919.2_Missense_Mutation_p.S304T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	741	Focal adhesion-targeting (FAT).|Poly-Ser.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTGCTGCTGCTGGTCTGCGT	0.627																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2221-2223)aGc>aCc		deleted in liver cancer 1							56	47	50					8																	12957624		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957624C>G	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2222G>C	8.37:g.12957624C>G	ENSP00000276297:p.Ser741Thr					DLC1_ENST00000512044.2_Missense_Mutation_p.S338T|DLC1_ENST00000358919.2_Missense_Mutation_p.S304T|DLC1_ENST00000520226.1_Missense_Mutation_p.S230T	p.S741T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2631	-			741			Poly-Ser.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.2222G>C	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320479	0.81469	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.07688	3.42;3.19;3.19;3.17	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.31979	0.0814	M	0.80422	2.495	0.80722	D	1	D;B;D	0.65815	0.995;0.103;0.99	P;B;D	0.72982	0.795;0.132;0.979	T	0.09975	-1.0650	10	0.66056	D	0.02	.	17.9274	0.88987	0.0:1.0:0.0:0.0	.	741;338;304	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	T	741;304;338;230	ENSP00000276297:S741T;ENSP00000351797:S304T;ENSP00000422595:S338T;ENSP00000428028:S230T	ENSP00000276297:S741T	S	-	2	0	DLC1	13001995	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.462000	0.80851	2.527000	0.85204	0.561000	0.74099	AGC		0.627	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		4	98	0	0	0	1	0	4	98					G	12957624	C	G	12957624	3	3	232	1	0	0	0	0	1	0	0	0	4550	797	28	4	2404	4	DLC1	8	12957624	Missense_Mutation	SNP	C	TCGA-EL-A3N2-01A-11D-A20C-08		12957624	133406398	7	4950											
ZNF16	7564	broad.mit.edu	37	chr8	146156288	146156288	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccacactcactgcatttgtAggggcgctcgcccgtgtgga	12	14	1	0			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr8:146156288A>G	ENST00000276816.4	-	4	2071	c.1885T>C	c.(1885-1887)Tac>Cac	p.Y629H	ZNF16_ENST00000394909.2_Missense_Mutation_p.Y629H	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	629					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CTGCATTTGTAGGGGCGCTCG	0.537																																						ENST00000276816.4																			0				breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1885-1887)Tac>Cac		zinc finger protein 16							107	104	105					8																	146156288		2203	4300	6503	SO:0001583	missense	7564				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146156288A>G	X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"Zinc fingers, C2H2-type"	12947	protein-coding gene	gene with protein product		601262	"zinc finger protein 16 (KOX 9)"				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.1885T>C	8.37:g.146156288A>G	ENSP00000276816:p.Tyr629His					ZNF16_ENST00000394909.2_Missense_Mutation_p.Y629H	p.Y629H	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)	4	2071	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	629					B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	ENST00000276816.4	37	c.1885T>C	CCDS6437.1	.	.	.	.	.	.	.	.	.	.	A	18.35	3.605439	0.66445	.	.	ENSG00000170631	ENST00000276816;ENST00000394909	T;T	0.67345	-0.26;-0.26	4.0	4.0	0.46444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.71065	0.3296	N	0.26092	0.79	0.24072	N	0.995972	D	0.89917	1.0	D	0.76071	0.987	T	0.61826	-0.6983	9	0.66056	D	0.02	.	12.015	0.53309	1.0:0.0:0.0:0.0	.	629	P17020	ZNF16_HUMAN	H	629	ENSP00000276816:Y629H;ENSP00000378369:Y629H	ENSP00000276816:Y629H	Y	-	1	0	ZNF16	146127092	0.177000	0.23109	0.987000	0.45799	0.931000	0.56810	2.789000	0.47813	1.673000	0.50895	0.379000	0.24179	TAC		0.537	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958		4	150	0	0	0	1	0	4	150					G	146156288	A	G	146156288	3	3	232	1	0	0	0	0	1	0	0	0	17735	420	15	3	167	3	ZNF16	8	146156288	Missense_Mutation	SNP	A	TCGA-EL-A3N2-01A-11D-A20C-08	133198664	146156288	207734	8	4951											
JAK2	3717	broad.mit.edu	37	chr9	5044418	5044418	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtagattttactttcctcgTtggtattgcagtggcagcaa	10	7	0	1			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr9:5044418T>C	ENST00000381652.3	+	5	860	c.366T>C	c.(364-366)cgT>cgC	p.R122R	JAK2_ENST00000539801.1_Silent_p.R122R|JAK2_ENST00000544510.1_5'UTR	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	122	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with cytokine/interferon/growth hormone receptors. {ECO:0000250}.				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)	ACTTTCCTCGTTGGTATTGCA	0.393		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.(364-366)cgT>cgC		Janus kinase 2							144	137	139					9																	5044418		2203	4300	6503	SO:0001819	synonymous_variant	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.chr9:5044418T>C		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.366T>C	9.37:g.5044418T>C						JAK2_ENST00000544510.1_5'UTR|JAK2_ENST00000539801.1_Silent_p.R122R	p.R122R	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	5	860	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	122			FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).		O14636|O75297	Silent	SNP	ENST00000381652.3	37	c.366T>C	CCDS6457.1																																																																																				0.393	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			3	138	0	0	0	1	0	3	138					C	5044418	T	C	5044418	2	2	232	1	0	0	0	0	0	0	0	1	7938	1712	60	3		3	JAK2	9	5044418	Silent	SNP	T	TCGA-EL-A3N2-01A-11D-A20C-08		5044418	136169013	9	4952											
FBXO10	26267	broad.mit.edu	37	chr9	37537802	37537802	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaattcacagttttccaggaCacacaggggcacgttgtgca	10	10	1	0			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr9:37537802C>T	ENST00000432825.2	-	3	772	c.724G>A	c.(724-726)Gtc>Atc	p.V242I	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Intron|FBXO10_ENST00000543968.1_5'Flank	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	242					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		TTTTCCAGGACACACAGGGGC	0.498																																						ENST00000432825.2																			0				breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(724-726)Gtc>Atc		F-box protein 10							67	68	68					9																	37537802		1958	4140	6098	SO:0001583	missense	26267					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr9:37537802C>T	AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"F-boxes /  "other""	13589	protein-coding gene	gene with protein product		609092	"F-box only protein 10"			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.724G>A	9.37:g.37537802C>T	ENSP00000403802:p.Val242Ile					RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Intron	p.V242I	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN		GBM - Glioblastoma multiforme(29;0.0107)	3	772	-			242					Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Missense_Mutation	SNP	ENST00000432825.2	37	c.724G>A	CCDS47966.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.705299	0.30232	.	.	ENSG00000147912	ENST00000432825	T	0.44482	0.92	5.06	3.13	0.36017	Pectin lyase fold/virulence factor (1);	0.155554	0.43919	D	0.000506	T	0.25827	0.0629	N	0.24115	0.695	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05869	-1.0859	10	0.54805	T	0.06	-23.4	6.0733	0.19901	0.0:0.6564:0.1538:0.1898	.	242	Q9UK96	FBX10_HUMAN	I	242	ENSP00000403802:V242I	ENSP00000276960:V242I	V	-	1	0	FBXO10	37527802	0.762000	0.28451	0.999000	0.59377	0.844000	0.47949	0.253000	0.18296	0.575000	0.29434	0.655000	0.94253	GTC		0.498	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3			27	56	0	0	0	1	0	27	56					T	37537802	C	T	37537802	3	4	232	1	0	0	0	0	1	0	0	0	5726	478	17	2	2182	2	FBXO10	9	37537802	Missense_Mutation	SNP	C	TCGA-EL-A3N2-01A-11D-A20C-08	32493384	37537802	103675629	10	4953											
IFFO1	25900	broad.mit.edu	37	chr12	6649704	6649706	+	In_Frame_Del	DEL	GGC	GGC	-													cggagtcctcagcctcgcttGgcggcggcggcgggtcgcta					rs144019095		TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr12:6649704_6649706delGGC	ENST00000396840.2	-	9	1664_1666	c.1623_1625delGCC	c.(1621-1626)ccgcca>cca	p.541_542PP>P	IFFO1_ENST00000465801.1_In_Frame_Del_p.237_238PP>P|RP5-940J5.8_ENST00000499202.2_RNA|RP5-940J5.9_ENST00000602946.1_RNA|IFFO1_ENST00000356896.4_In_Frame_Del_p.545_546PP>P|IFFO1_ENST00000436152.2_In_Frame_Del_p.238_239PP>P|IFFO1_ENST00000336604.4_In_Frame_Del_p.544_545PP>P			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	541	Poly-Pro.					intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						AGCCTCGCTTGGCGGCGGCGGCG	0.601																																						ENST00000436152.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(712-717)cca>cc		intermediate filament family orphan 1																																				SO:0001651	inframe_deletion	25900					intermediate filament		g.chr12:6649704_6649706delGGC	AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"Intermediate filament family orphans"	24970	protein-coding gene	gene with protein product		610495	"intermediate filament family orphan"	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.1623_1625delGCC	12.37:g.6649713_6649715delGGC	ENSP00000380052:p.Pro542del					IFFO1_ENST00000465801.1_In_Frame_Del_p.PP237del|IFFO1_ENST00000396840.2_In_Frame_Del_p.PP541del|IFFO1_ENST00000356896.4_In_Frame_Del_p.PP545del|IFFO1_ENST00000336604.4_In_Frame_Del_p.PP544del	p.PP238del			Q0D2I5	IFFO1_HUMAN			11	1273_1275	-			541					Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	In_Frame_Del	DEL	ENST00000396840.2	37	c.714_716delGCC																																																																																					0.601	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730		7	217						7	217	---	---	---	---	-	6649706	GGC	-	6649704	7	5	232	1	0	1	0	1	0	0	0	0	7510	1348	47	0	58	0	IFFO1	12	6649704	In_Frame_Del	DEL	GGC	TCGA-EL-A3N2-01A-11D-A20C-08		6649704	127202191	11	4954											
EMG1	10436	broad.mit.edu	37	chr12	7080210	7080211	+	Splice_Site	INS	-	-	G													aaacaagatcggaggccgtaINSgtttattgtggtgctggaag					rs60117710|rs374779752|rs200041551		TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr12:7080210_7080211insG	ENST00000261406.6	+	2	266		c.e2-1		PHB2_ENST00000546111.1_5'Flank|PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000544134.1_5'Flank|EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000542912.1_5'Flank|PHB2_ENST00000535923.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		CGGAGGCCGTAGTTTATTGTGG	0.569													GG|G|GG|deletion	5008	1	1	1	5008	,	,		18008	1		1	False		,,,				2504	1					ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3732,16		1865,2,7						3.0	1.0		dbSNP_129	28	7880,30		3934,12,9	no	frameshift	EMG1	NM_006331.7		5799,14,16	A1A1,A1R,RR		0.3793,0.4269,0.3946				11612,46				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080210_7080211insG	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"EMG1 nucleolar protein homolog (S. cerevisiae)"			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->G	12.37:g.7080211_7080211dupG						U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA				Q92979	NEP1_HUMAN			0	155_156	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Intron	8	14						8	14	---	---	---	---	G	7080211	-	G	7080210	8	5	232	1	0	1	1	0	0	0	1	0	5090	420	15	0	126	0	EMG1	12	7080210	Splice_Site	INS	-	TCGA-EL-A3N2-01A-11D-A20C-08	430506	7080210	126771685	12	4955											
DDX51	317781	broad.mit.edu	37	chr12	132625900	132625900	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcgctctggaaggcggcCgccaccacccgcggcagcca	12	19	1	0	rs199515732		TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr12:132625900C>T	ENST00000397333.3	-	8	1208	c.1170G>A	c.(1168-1170)gcG>gcA	p.A390A		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	390	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		GGAAGGCGGCCGCCACCACCC	0.687																																						ENST00000397333.3																			0				endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(1168-1170)gcG>gcA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 51							46	58	54					12																	132625900		1990	4114	6104	SO:0001819	synonymous_variant	317781				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:132625900C>T	BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"DEAD-boxes"	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.1170G>A	12.37:g.132625900C>T							p.A390A	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)	8	1208	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	390			Helicase ATP-binding.		A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Silent	SNP	ENST00000397333.3	37	c.1170G>A	CCDS41865.1																																																																																				0.687	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398978.1	NM_175066		91	159	0	0	0	1	0	91	159					T	132625900	C	T	132625900	2	4	232	1	0	0	0	0	0	0	0	1	4369	639	23	1		1	DDX51	12	132625900	Silent	SNP	C	TCGA-EL-A3N2-01A-11D-A20C-08	125545690	132625900	1225995	13	4956											
SLC5A2	6524	broad.mit.edu	37	chr16	31500259	31500259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttcccgtggtgcaggcgGcacagggcgggcagctcttc	17	13	1	0	rs376838977		TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr16:31500259G>A	ENST00000330498.3	+	11	1358	c.1339G>A	c.(1339-1341)Gca>Aca	p.A447T	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	447					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	GGTGCAGGCGGCACAGGGCGG	0.682																																						ENST00000330498.3																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(1339-1341)Gca>Aca		solute carrier family 5 (sodium/glucose cotransporter), member 2							50	47	48					16																	31500259		2197	4299	6496	SO:0001583	missense	6524				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	g.chr16:31500259G>A		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"Solute carriers"	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1339G>A	16.37:g.31500259G>A	ENSP00000327943:p.Ala447Thr						p.A447T	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN			11	1358	+			447					A2RRD2	Missense_Mutation	SNP	ENST00000330498.3	37	c.1339G>A	CCDS10714.1	.	.	.	.	.	.	.	.	.	.	G	34	5.294974	0.95574	.	.	ENSG00000140675	ENST00000330498	D	0.88509	-2.39	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	D	0.93012	0.7776	M	0.64676	1.99	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92213	0.5778	10	0.40728	T	0.16	.	15.5974	0.76595	0.0:0.0:1.0:0.0	.	447	P31639	SC5A2_HUMAN	T	447	ENSP00000327943:A447T	ENSP00000327943:A447T	A	+	1	0	SLC5A2	31407760	1.000000	0.71417	0.250000	0.24296	0.928000	0.56348	7.743000	0.85020	2.549000	0.85964	0.561000	0.74099	GCA		0.682	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			4	126	0	0	0	1	0	4	126					A	31500259	G	A	31500259	3	1	232	1	0	0	0	0	1	0	0	0	14665	1203	42	2	1381	2	SLC5A2	16	31500259	Missense_Mutation	SNP	G	TCGA-EL-A3N2-01A-11D-A20C-08		31500259	58854494	14	4957											
KCNA7	3743	broad.mit.edu	37	chr19	49575500	49575500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcagggggcgctcgggcgGcaccgggcagccctcgtcct	19	15	0	0			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr19:49575500G>A	ENST00000221444.1	-	1	698	c.343C>T	c.(343-345)Ccg>Tcg	p.P115S		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	115					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	Dalfampridine(DB06637)	CGCTCGGGCGGCACCGGGCAG	0.746																																					Colon(74;686 1235 3793 23366 48562)	ENST00000221444.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11						c.(343-345)Ccg>Tcg		potassium voltage-gated channel, shaker-related subfamily, member 7							5	8	7					19																	49575500		1983	3830	5813	SO:0001583	missense	3743					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:49575500G>A	AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6226	protein-coding gene	gene with protein product		176268				16382104	Standard	NM_031886		Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.343C>T	19.37:g.49575500G>A	ENSP00000221444:p.Pro115Ser						p.P115S	NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	1	698	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	115					A1KYX7|Q9BYS4	Missense_Mutation	SNP	ENST00000221444.1	37	c.343C>T	CCDS12755.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228185	0.39399	.	.	ENSG00000104848	ENST00000221444	D	0.97505	-4.41	3.37	2.2	0.27929	.	0.284012	0.30901	N	0.008656	D	0.94231	0.8148	L	0.37850	1.14	0.34693	D	0.725932	B	0.31026	0.304	B	0.38296	0.27	D	0.95666	0.8719	10	0.72032	D	0.01	.	9.5732	0.39440	0.0:0.4295:0.5705:0.0	.	115	Q96RP8	KCNA7_HUMAN	S	115	ENSP00000221444:P115S	ENSP00000221444:P115S	P	-	1	0	KCNA7	54267312	1.000000	0.71417	0.980000	0.43619	0.539000	0.34962	6.209000	0.72171	1.930000	0.55929	0.485000	0.47835	CCG		0.746	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466263.1	NM_031886		3	37	0	0	0	1	0	3	37					A	49575500	G	A	49575500	3	1	232	1	0	0	0	0	1	0	0	0	8008	1203	42	2	1035	2	KCNA7	19	49575500	Missense_Mutation	SNP	G	TCGA-EL-A3N2-01A-11D-A20C-08		49575500	9553483	15	4958											
NLRP5	126206	broad.mit.edu	37	chr19	56539568	56539568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtcctgctgggctgtcccGttcccctgggggtgaagcag	16	12	0	1	rs370513314		TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr19:56539568G>A	ENST00000390649.3	+	7	1969	c.1969G>A	c.(1969-1971)Gtt>Att	p.V657I		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	657					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.V657I(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GGGCTGTCCCGTTCCCCTGGG	0.597																																						ENST00000390649.3																			2	Substitution - Missense(2)	p.V657I(2)	kidney(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(1969-1971)Gtt>Att		NLR family, pyrin domain containing 5		G	ILE/VAL	0,3966		0,0,1983	62	65	64		1969	-0.3	0.0	19		64	1,8307		0,1,4153	no	missense	NLRP5	NM_153447.4	29	0,1,6136	AA,AG,GG		0.012,0.0,0.0081	possibly-damaging	657/1201	56539568	1,12273	1983	4154	6137	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539568G>A	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1969G>A	19.37:g.56539568G>A	ENSP00000375063:p.Val657Ile						p.V657I	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	1969	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	657					A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.1969G>A	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	9.763	1.170697	0.21621	0.0	1.2E-4	ENSG00000171487	ENST00000390649	D	0.88975	-2.45	3.26	-0.266	0.12942	.	0.497253	0.15090	N	0.281128	T	0.79907	0.4527	L	0.52905	1.665	0.09310	N	1	P	0.43607	0.812	B	0.36845	0.234	T	0.68228	-0.5464	10	0.22109	T	0.4	.	3.4644	0.07544	0.2522:0.2153:0.5325:0.0	.	657	P59047	NALP5_HUMAN	I	657	ENSP00000375063:V657I	ENSP00000375063:V657I	V	+	1	0	NLRP5	61231380	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.169000	0.16641	0.044000	0.15775	-0.258000	0.10820	GTT		0.597	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		50	76	0	0	0	1	0	50	76					A	56539568	G	A	56539568	3	1	232	1	0	0	0	0	1	0	0	0	10480	1145	40	1	1995	1	NLRP5	19	56539568	Missense_Mutation	SNP	G	TCGA-EL-A3N2-01A-11D-A20C-08	6964068	56539568	2589415	16	4959											
SEL1L2	80343	broad.mit.edu	37	chr20	13850192	13850192	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactgtgcgtcgggccacccTttttccgcagctttctgaaa	9	13	1	1			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr20:13850192T>C	ENST00000284951.5	-	14	1286	c.1212A>G	c.(1210-1212)aaA>aaG	p.K404K	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Silent_p.K404K			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	404						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CGGGCCACCCTTTTTCCGCAG	0.393																																						ENST00000284951.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						c.(1210-1212)aaA>aaG		sel-1 suppressor of lin-12-like 2 (C. elegans)							106	99	101					20																	13850192		1868	4113	5981	SO:0001819	synonymous_variant	80343					integral to membrane	binding	g.chr20:13850192T>C	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"chromosome 20 open reading frame 50"	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1212A>G	20.37:g.13850192T>C						SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Silent_p.K404K	p.K404K			Q5TEA6	SE1L2_HUMAN			14	1286	-			404					B4DXX5	Silent	SNP	ENST00000284951.5	37	c.1212A>G																																																																																					0.393	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		3	111	0	0	0	1	0	3	111					C	13850192	T	C	13850192	2	2	232	1	0	0	0	0	0	0	0	1	14011	1606	56	3		3	SEL1L2	20	13850192	Silent	SNP	T	TCGA-EL-A3N2-01A-11D-A20C-08		13850192	49175328	17	4960											
NCOA6	23054	broad.mit.edu	37	chr20	33338270	33338270	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggctgcatcatatttggCggcccgtgggacacctgcat	13	12	1	0	rs201030340		TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr20:33338270C>T	ENST00000374796.2	-	10	4298	c.1728G>A	c.(1726-1728)ccG>ccA	p.P576P	NCOA6_ENST00000359003.2_Silent_p.P576P			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	576	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TCATATTTGGCGGCCCGTGGG	0.453																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(1726-1728)ccG>ccA		nuclear receptor coactivator 6							45	47	46					20																	33338270		2203	4299	6502	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33338270C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"nuclear receptor coactivator RAP250", "activating signal cointegrator-2", "peroxisome proliferator-activated receptor interacting protein"	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.1728G>A	20.37:g.33338270C>T						NCOA6_ENST00000359003.2_Silent_p.P576P	p.P576P			Q14686	NCOA6_HUMAN			10	4298	-			576			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.1728G>A	CCDS13241.1																																																																																				0.453	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		4	135	0	0	0	1	0	4	135					T	33338270	C	T	33338270	2	4	232	1	0	0	0	0	0	0	0	1	10233	755	27	1		1	NCOA6	20	33338270	Silent	SNP	C	TCGA-EL-A3N2-01A-11D-A20C-08	19488078	33338270	29687250	18	4961											
YTHDF1	54915	broad.mit.edu	37	chr20	61833650	61833652	+	In_Frame_Del	DEL	CCT	CCT	-													cagcctcaccttgcgcaccaCctcctcctcctcctggcgct							TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr20:61833650_61833652delCCT	ENST00000370339.3	-	4	1981_1983	c.1640_1642delAGG	c.(1639-1644)gaggtg>gtg	p.E547del	YTHDF1_ENST00000370333.4_In_Frame_Del_p.E497del|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	547							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TTGCGCACCACCTCCTCCTCCTC	0.557																																						ENST00000370339.3																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						c.(1639-1644)gtg>g		YTH domain family, member 1																																				SO:0001651	inframe_deletion	54915							g.chr20:61833650_61833652delCCT	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"YTH domain family 1"	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.1640_1642delAGG	20.37:g.61833659_61833661delCCT	ENSP00000359364:p.Glu547del					YTHDF1_ENST00000370333.4_In_Frame_Del_p.EV497del|YTHDF1_ENST00000370334.4_Intron	p.EV547del	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN			4	1981_1983	-			547					Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	In_Frame_Del	DEL	ENST00000370339.3	37	c.1640_1642delAGG	CCDS13511.1																																																																																				0.557	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		7	372						7	372	---	---	---	---	-	61833652	CCT	-	61833650	7	5	232	1	0	1	0	1	0	0	0	0	17495	507	18	0	45	0	YTHDF1	20	61833650	In_Frame_Del	DEL	CCT	TCGA-EL-A3N2-01A-11D-A20C-08	28495380	61833650	1191870	19	4962											
CBX6	23466	broad.mit.edu	37	chr22	39262611	39262611	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcagaggactgtggtgtaGgcgaggggcagccggaggag	22	6	1	1			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr22:39262611G>A	ENST00000407418.3	-	5	965	c.842C>T	c.(841-843)cCt>cTt	p.P281L	CBX6_ENST00000216083.6_Missense_Mutation_p.P263L			O95503	CBX6_HUMAN	chromobox homolog 6	281					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					CTGTGGTGTAGGCGAGGGGCA	0.746																																						ENST00000407418.3																			0				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						c.(841-843)cCt>cTt		chromobox homolog 6							5	6	5					22																	39262611		2097	4114	6211	SO:0001583	missense	23466				chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex		g.chr22:39262611G>A		CCDS13980.1	22q13.1	2013-04-23			ENSG00000183741	ENSG00000183741			1556	protein-coding gene	gene with protein product							Standard	NM_014292		Approved		uc003awl.3	O95503	OTTHUMG00000150456	ENST00000407418.3:c.842C>T	22.37:g.39262611G>A	ENSP00000384490:p.Pro281Leu					CBX6_ENST00000216083.6_Missense_Mutation_p.P263L	p.P281L			O95503	CBX6_HUMAN			5	965	-	Melanoma(58;0.04)		281					A8KAH0|Q96EM5	Missense_Mutation	SNP	ENST00000407418.3	37	c.842C>T	CCDS13980.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894303	0.52121	.	.	ENSG00000183741	ENST00000407418;ENST00000216083	.	.	.	4.29	4.29	0.51040	.	2.932620	0.02096	U	0.053549	T	0.60431	0.2268	L	0.27053	0.805	0.58432	D	0.999992	P	0.47762	0.9	P	0.47044	0.535	T	0.52711	-0.8539	9	0.56958	D	0.05	.	16.7618	0.85514	0.0:0.0:1.0:0.0	.	281	O95503	CBX6_HUMAN	L	281;263	.	ENSP00000216083:P263L	P	-	2	0	CBX6	37592557	1.000000	0.71417	0.402000	0.26371	0.281000	0.26958	6.210000	0.72176	1.946000	0.56461	0.407000	0.27541	CCT		0.746	CBX6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318190.1	NM_014292		13	11	0	0	0	1	0	13	11					A	39262611	G	A	39262611	3	1	232	1	0	0	0	0	1	0	0	0	2722	1000	35	2	400	2	CBX6	22	39262611	Missense_Mutation	SNP	G	TCGA-EL-A3N2-01A-11D-A20C-08		39262611	12041955	20	4963											
TAF1	6872	broad.mit.edu	37	chrX	70598838	70598838	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcctggcaggctggcttccTtctagcatgactaggaatgc	12	11	1	1			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chrX:70598838T>C	ENST00000373790.4	+	8	1365	c.1314T>C	c.(1312-1314)ccT>ccC	p.P438P	TAF1_ENST00000449580.1_Silent_p.P438P|TAF1_ENST00000276072.3_Silent_p.P459P|TAF1_ENST00000423759.1_Silent_p.P459P	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	438					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GCTGGCTTCCTTCTAGCATGA	0.498																																						ENST00000449580.1																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(1312-1314)ccT>ccC		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							185	138	154					X																	70598838		2203	4300	6503	SO:0001819	synonymous_variant	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70598838T>C		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.1314T>C	X.37:g.70598838T>C						TAF1_ENST00000423759.1_Silent_p.P459P|TAF1_ENST00000276072.3_Silent_p.P459P|TAF1_ENST00000373790.4_Silent_p.P438P	p.P438P			P21675	TAF1_HUMAN			8	1365	+	Renal(35;0.156)	all_lung(315;0.000321)	438					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Silent	SNP	ENST00000373790.4	37	c.1314T>C	CCDS35325.1																																																																																				0.498	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		5	287	0	0	0	1	0	5	287					C	70598838	T	C	70598838	2	2	232	1	0	0	0	0	0	0	0	1	15510	1596	56	3		3	TAF1	23	70598838	Silent	SNP	T	TCGA-EL-A3N2-01A-11D-A20C-08		70598838	84671722	21	4964											
SRPX2	27286	broad.mit.edu	37	chrX	99920610	99920610	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgttacactgcctatgaccGagcctacaaccgggccagct	9	15	0	1	rs146063801	byFrequency	TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chrX:99920610G>A	ENST00000373004.3	+	7	1165	c.737G>A	c.(736-738)cGa>cAa	p.R246Q		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	246	HYR. {ECO:0000255|PROSITE- ProRule:PRU00113}.				angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						GCCTATGACCGAGCCTACAAC	0.488													G|||	1	0.000264901	0	0	3775	,	,		15014	0.001		0	False		,,,				2504	0					ENST00000373004.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(736-738)cGa>cAa		sushi-repeat containing protein, X-linked 2		G	GLN/ARG	3,3832		0,3,1629,571	127	117	121		737	0.0	0.9	X	dbSNP_134	121	1,6727		0,1,2427,1872	yes	missense	SRPX2	NM_014467.2	43	0,4,4056,2443	AA,AG,GG,G		0.0149,0.0782,0.0379	benign	246/466	99920610	4,10559	2203	4300	6503	SO:0001583	missense	27286				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding	g.chrX:99920610G>A	AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"sushi-repeat-containing protein, X-linked 2"			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.737G>A	X.37:g.99920610G>A	ENSP00000362095:p.Arg246Gln						p.R246Q	NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN			7	1165	+			246			HYR.		B3KQT3|Q8WW85	Missense_Mutation	SNP	ENST00000373004.3	37	c.737G>A	CCDS14471.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.711448	0.30322	7.82E-4	1.49E-4	ENSG00000102359	ENST00000373004	T	0.22336	1.96	5.74	0.0403	0.14208	Hyalin (2);	0.320421	0.34025	N	0.004332	T	0.07413	0.0187	N	0.11560	0.145	0.36134	D	0.846306	B	0.10296	0.003	B	0.04013	0.001	T	0.32188	-0.9916	9	.	.	.	-0.0303	2.0582	0.03586	0.4165:0.12:0.3387:0.1248	.	246	O60687	SRPX2_HUMAN	Q	246	ENSP00000362095:R246Q	.	R	+	2	0	SRPX2	99807266	0.973000	0.33851	0.948000	0.38648	0.764000	0.43329	0.227000	0.17795	-0.489000	0.06716	-0.225000	0.12378	CGA		0.488	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057486.1	NM_014467		105	194	0	0	0	1	0	105	194					A	99920610	G	A	99920610	3	1	232	1	0	0	0	0	1	0	0	0	15164	1058	37	1	759	1	SRPX2	23	99920610	Missense_Mutation	SNP	G	TCGA-EL-A3N2-01A-11D-A20C-08	29321772	99920610	55349950	22	4965											
NXF3	56000	broad.mit.edu	37	chrX	102339349	102339349	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctggaggtttttgctctctcTccatgttaacgtgggtttgg	12	8	2	0			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chrX:102339349T>A	ENST00000395065.3	-	3	373	c.272A>T	c.(271-273)gAg>gTg	p.E91V	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.E2V	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	91					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						TTGCTCTCTCTCCATGTTAAC	0.478																																						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.(271-273)gAg>gTg		nuclear RNA export factor 3							234	180	198					X																	102339349		2203	4300	6503	SO:0001583	missense	56000					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:102339349T>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.272A>T	X.37:g.102339349T>A	ENSP00000378504:p.Glu91Val					NXF3_ENST00000425463.2_Missense_Mutation_p.E2V|NXF3_ENST00000425644.1_5'UTR	p.E91V	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN			3	373	-			91					B4DYS7|Q5H9I1|Q9H1A9	Missense_Mutation	SNP	ENST00000395065.3	37	c.272A>T	CCDS14503.1	.	.	.	.	.	.	.	.	.	.	T	13.50	2.255630	0.39896	.	.	ENSG00000147206	ENST00000395065;ENST00000425463	T;T	0.47869	0.88;0.83	3.69	-1.64	0.08318	.	0.129758	0.33712	N	0.004623	T	0.47451	0.1446	L	0.52573	1.65	0.09310	N	1	D;P	0.89917	1.0;0.885	D;P	0.71656	0.974;0.449	T	0.46816	-0.9164	10	0.13470	T	0.59	-4.5913	3.0781	0.06253	0.1914:0.3225:0.0:0.4861	.	91;91	B4DYI1;Q9H4D5	.;NXF3_HUMAN	V	91;2	ENSP00000378504:E91V;ENSP00000404347:E2V	ENSP00000378504:E91V	E	-	2	0	NXF3	102226005	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.482000	0.22276	-0.446000	0.07149	-0.443000	0.05667	GAG		0.478	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1	NM_022052		111	173	0	0	0	1	0	111	173					A	102339349	T	A	102339349	3	1	232	1	0	0	0	0	1	0	0	0	10785	1551	54	5	1391	5	NXF3	23	102339349	Missense_Mutation	SNP	T	TCGA-EL-A3N2-01A-11D-A20C-08	2418739	102339349	52931211	23	4966											
CHD5	26038	broad.mit.edu	37	chr1	6194802	6194802	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcagccacagggaagaggtaGgggtggttgcagcacttttt	16	7	0	1			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr1:6194802G>C	ENST00000262450.3	-	19	3087	c.2988C>G	c.(2986-2988)ccC>ccG	p.P996P	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGAAGAGGTAGGGGTGGTTGC	0.587																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(2986-2988)ccC>ccG		chromodomain helicase DNA binding protein 5							218	227	224					1																	6194802		2203	4300	6503	SO:0001819	synonymous_variant	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6194802G>C	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.2988C>G	1.37:g.6194802G>C						CHD5_ENST00000378021.1_5'UTR	p.P996P	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	19	3087	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	996					A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	37	c.2988C>G	CCDS57.1																																																																																				0.587	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		76	195	0	0	0	0.139131	0	76	195					C	6194802	G	C	6194802	2	2	233	1	0	0	0	0	0	0	0	1	3328	987	35	4		4	CHD5	1	6194802	Silent	SNP	G	TCGA-EL-A3N3-01A-11D-A20C-08		6194802	243055819	1	4967											
TCF7L1	83439	broad.mit.edu	37	chr2	85533408	85533408	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgccttcatgttgtatAtgaaggagatgagggccaag	13	5	1	4			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr2:85533408A>T	ENST00000282111.3	+	9	1344	c.1069A>T	c.(1069-1071)Atg>Ttg	p.M357L		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	357					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CATGTTGTATATGAAGGAGAT	0.512																																						ENST00000282111.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						c.(1069-1071)Atg>Ttg		transcription factor 7-like 1 (T-cell specific, HMG-box)							128	117	121					2																	85533408		2203	4300	6503	SO:0001583	missense	83439				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:85533408A>T	X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.1069A>T	2.37:g.85533408A>T	ENSP00000282111:p.Met357Leu						p.M357L	NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN			9	1344	+			357					Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000282111.3	37	c.1069A>T	CCDS1971.1	.	.	.	.	.	.	.	.	.	.	A	30	5.054709	0.93793	.	.	ENSG00000152284	ENST00000282111	D	0.97850	-4.57	5.17	5.17	0.71159	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.98021	0.9348	M	0.64170	1.965	0.80722	D	1	P	0.45348	0.856	P	0.60949	0.881	D	0.98834	1.0752	10	0.87932	D	0	.	12.9671	0.58490	1.0:0.0:0.0:0.0	.	357	Q9HCS4	TF7L1_HUMAN	L	357	ENSP00000282111:M357L	ENSP00000282111:M357L	M	+	1	0	TCF7L1	85386919	1.000000	0.71417	0.987000	0.45799	0.957000	0.61999	9.323000	0.96364	1.952000	0.56665	0.482000	0.46254	ATG		0.512	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	NM_031283		22	58	0	0	0	0.0918	0	22	58					T	85533408	A	T	85533408	3	4	233	1	0	0	0	0	1	0	0	0	15694	449	16	5	1103	5	TCF7L1	2	85533408	Missense_Mutation	SNP	A	TCGA-EL-A3N3-01A-11D-A20C-08		85533408	157665965	2	4968											
BOLL	66037	broad.mit.edu	37	chr2	198640461	198640461	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atccttataattaagtttttCagcctaaaataaagaaaaaa	3	5	1	1			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr2:198640461C>G	ENST00000392296.4	-	5	589	c.280G>C	c.(280-282)Gaa>Caa	p.E94Q	BOLL_ENST00000433157.1_Missense_Mutation_p.E94Q|BOLL_ENST00000430004.1_Missense_Mutation_p.E94Q|BOLL_ENST00000282278.8_Intron|BOLL_ENST00000321801.7_Missense_Mutation_p.E106Q	NM_033030.5	NP_149019.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	94	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						TTAAGTTTTTCAGCCtaaaat	0.249																																						ENST00000321801.7																			0				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						c.(316-318)Gaa>Caa		boule-like RNA-binding protein							62	64	64					2																	198640461		2200	4275	6475	SO:0001583	missense	66037				cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity	g.chr2:198640461C>G		CCDS2324.1, CCDS2325.1, CCDS63081.1	2q33	2013-10-17	2013-10-17		ENSG00000152430	ENSG00000152430		"RNA binding motif (RRM) containing"	14273	protein-coding gene	gene with protein product		606165	"bol (Drosophila boule homolog)-like", "bol, boule-like (Drosophila)"			11390979, 16001084	Standard	NM_197970		Approved	BOULE	uc002uut.2	Q8N9W6	OTTHUMG00000132747	ENST00000392296.4:c.280G>C	2.37:g.198640461C>G	ENSP00000376116:p.Glu94Gln					BOLL_ENST00000282278.8_Intron|BOLL_ENST00000430004.1_Missense_Mutation_p.E94Q|BOLL_ENST00000433157.1_Missense_Mutation_p.E94Q|BOLL_ENST00000392296.4_Missense_Mutation_p.E94Q	p.E106Q	NM_197970.2	NP_932074.1	Q8N9W6	BOLL_HUMAN			5	886	-			94			RRM.		B4DZA4|Q0JW32|Q53T62|Q969U3	Missense_Mutation	SNP	ENST00000392296.4	37	c.316G>C	CCDS2325.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236428	0.58886	.	.	ENSG00000152430	ENST00000430004;ENST00000392296;ENST00000321801;ENST00000433157	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	5.33	5.33	0.75918	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.221025	0.40144	N	0.001170	T	0.24661	0.0598	N	0.13327	0.33	0.80722	D	1	P;P;B;B	0.39862	0.541;0.692;0.121;0.099	B;B;B;B	0.39840	0.157;0.311;0.155;0.096	T	0.08330	-1.0727	10	0.72032	D	0.01	-12.0074	11.635	0.51198	0.0:0.9157:0.0:0.0843	.	100;106;94;100	Q8N9W6-2;Q8N9W6-3;Q8N9W6;Q8N9W6-4	.;.;BOLL_HUMAN;.	Q	94;94;106;94	ENSP00000397711:E94Q;ENSP00000376116:E94Q;ENSP00000314792:E106Q;ENSP00000396099:E94Q	ENSP00000314792:E106Q	E	-	1	0	BOLL	198348706	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.346000	0.52190	2.485000	0.83878	0.650000	0.86243	GAA		0.249	BOLL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256107.3	NM_033030		10	39	0	0	0	0.069234	0	10	39					G	198640461	C	G	198640461	3	3	233	1	0	0	0	0	1	0	0	0	1487	835	29	4	599	4	BOLL	2	198640461	Missense_Mutation	SNP	C	TCGA-EL-A3N3-01A-11D-A20C-08	113107053	198640461	44558912	3	4969											
MYLK	4638	broad.mit.edu	37	chr3	123420311	123420311	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agggctctggcagagctgttCtgtagcatcagtgacacctg	13	10	3	2			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr3:123420311C>T	ENST00000475616.1	-	14	2435	c.2436G>A	c.(2434-2436)caG>caA	p.Q812Q	MYLK_ENST00000360772.3_Silent_p.Q812Q|MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000359169.1_Silent_p.Q812Q|MYLK_ENST00000360304.3_Silent_p.Q812Q|MYLK_ENST00000346322.5_Silent_p.Q743Q			Q15746	MYLK_HUMAN	myosin light chain kinase	812	Ig-like C2-type 6.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CAGAGCTGTTCTGTAGCATCA	0.607																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(2434-2436)caG>caA		myosin light chain kinase							69	73	72					3																	123420311		2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123420311C>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.2436G>A	3.37:g.123420311C>T						MYLK_ENST00000360304.3_Silent_p.Q812Q|MYLK_ENST00000359169.1_Silent_p.Q812Q|MYLK_ENST00000346322.5_Silent_p.Q743Q|MYLK_ENST00000475616.1_Silent_p.Q812Q	p.Q812Q			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	18	2814	-		Lung NSC(201;0.0496)	812			Ig-like C2-type 6.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.2436G>A	CCDS46896.1																																																																																				0.607	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		32	170	0	0	0	0.074837	0	32	170					T	123420311	C	T	123420311	2	4	233	1	0	0	0	0	0	0	0	1	10056	912	32	2		2	MYLK	3	123420311	Silent	SNP	C	TCGA-EL-A3N3-01A-11D-A20C-08		123420311	74602119	4	4970											
MUC7	4589	broad.mit.edu	37	chr4	71347138	71347138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaactacaccagctccacCatcttcctcagctccaccag	4	19	2	0			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr4:71347138C>T	ENST00000304887.5	+	3	867	c.677C>T	c.(676-678)cCa>cTa	p.P226L	MUC7_ENST00000456088.1_Missense_Mutation_p.P226L|MUC7_ENST00000413702.1_Missense_Mutation_p.P226L	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	226	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.P226L(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CCAGCTCCACCATCTTCCTCA	0.582																																						ENST00000413702.1																			1	Substitution - Missense(1)	p.P226L(1)	endometrium(1)	central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(676-678)cCa>cTa		mucin 7, secreted							433	365	388					4																	71347138		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71347138C>T	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"Mucins"	7518	protein-coding gene	gene with protein product		158375	"mucin 7, salivary"			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.677C>T	4.37:g.71347138C>T	ENSP00000302021:p.Pro226Leu					MUC7_ENST00000456088.1_Missense_Mutation_p.P226L|MUC7_ENST00000304887.5_Missense_Mutation_p.P226L	p.P226L	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	965	+			226			Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.677C>T	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	C	9.454	1.091388	0.20471	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.64618	-0.11;-0.11;-0.11	1.94	-3.88	0.04205	.	.	.	.	.	T	0.39462	0.1079	N	0.19112	0.55	0.09310	N	1	P	0.41784	0.762	B	0.39379	0.298	T	0.28364	-1.0046	8	.	.	.	5.0E-4	6.1445	0.20278	0.5267:0.3242:0.1491:0.0	.	226	Q8TAX7	MUC7_HUMAN	L	226	ENSP00000407422:P226L;ENSP00000400585:P226L;ENSP00000302021:P226L	.	P	+	2	0	MUC7	71381727	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.296000	0.19083	-1.606000	0.01591	-1.058000	0.02302	CCA		0.582	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		6	376	0	0	0	0.02938	0	6	376					T	71347138	C	T	71347138	3	4	233	1	0	0	0	0	1	0	0	0	9981	594	21	2	683	2	MUC7	4	71347138	Missense_Mutation	SNP	C	TCGA-EL-A3N3-01A-11D-A20C-08		71347138	119807138	5	4971											
ODZ2	57451	broad.mit.edu	37	chr5	167655023	167655023	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcaccatcacccccaccaTtggacgctgcaacatctccc	7	19	2	0	rs6859235		TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr5:167655023T>C	ENST00000518659.1	+	25	5447	c.5408T>C	c.(5407-5409)aTt>aCt	p.I1803T	TENM2_ENST00000519204.1_Missense_Mutation_p.I1682T|TENM2_ENST00000520394.1_Missense_Mutation_p.I1564T|CTB-178M22.2_ENST00000519795.1_RNA|TENM2_ENST00000545108.1_Missense_Mutation_p.I1802T|TENM2_ENST00000403607.2_Missense_Mutation_p.I1627T	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1803					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										ACCCCCACCATTGGACGCTGC	0.512																																						ENST00000519204.1																			0											c.(5044-5046)aTt>aCt		teneurin transmembrane protein 2							51	54	53					5																	167655023		2051	4201	6252	SO:0001583	missense	57451							g.chr5:167655023T>C	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.5408T>C	5.37:g.167655023T>C	ENSP00000429430:p.Ile1803Thr					TENM2_ENST00000545108.1_Missense_Mutation_p.I1802T|TENM2_ENST00000403607.2_Missense_Mutation_p.I1627T|TENM2_ENST00000520394.1_Missense_Mutation_p.I1564T|TENM2_ENST00000518659.1_Missense_Mutation_p.I1803T	p.I1682T							24	5163	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.5045T>C		.	.	.	.	.	.	.	.	.	.	T	19.26	3.792826	0.70452	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89681	-2.08;-2.07;-2.18;-2.54;-2.55	5.66	5.66	0.87406	.	0.090234	0.85682	D	0.000000	D	0.92364	0.7577	L	0.53249	1.67	0.50813	D	0.999899	P;P;D	0.58970	0.868;0.61;0.984	P;B;D	0.69479	0.492;0.219;0.964	D	0.91118	0.4927	10	0.31617	T	0.26	.	15.8895	0.79286	0.0:0.0:0.0:1.0	rs6859235;rs6859235	1802;1803;1564	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	T	1803;1802;1682;1564;1627	ENSP00000429430:I1803T;ENSP00000438635:I1802T;ENSP00000428964:I1682T;ENSP00000427874:I1564T;ENSP00000384905:I1627T	ENSP00000384905:I1627T	I	+	2	0	ODZ2	167587601	1.000000	0.71417	0.964000	0.40570	0.930000	0.56654	6.289000	0.72696	2.153000	0.67306	0.459000	0.35465	ATT		0.512	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		19	31	0	0	0	0.069288	0	19	31					C	167655023	T	C	167655023	3	2	233	1	0	0	0	0	1	0	0	0	10835	1493	52	3	5479	3	ODZ2	5	167655023	Missense_Mutation	SNP	T	TCGA-EL-A3N3-01A-11D-A20C-08		167655023	13260237	6	4972											
MDN1	23195	broad.mit.edu	37	chr6	90384187	90384187	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagcaggatctggcactgcaTggccaggtgctgcaggcgct	15	11	1	0			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr6:90384187T>A	ENST00000369393.3	-	79	12998	c.12883A>T	c.(12883-12885)Atg>Ttg	p.M4295L	MDN1_ENST00000428876.1_Missense_Mutation_p.M4295L|MDN1_ENST00000468568.1_5'Flank|RP1-122O8.7_ENST00000438877.1_RNA			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4295					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGGCACTGCATGGCCAGGTGC	0.652																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(12883-12885)Atg>Ttg		MDN1, midasin homolog (yeast)							25	25	25					6																	90384187		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90384187T>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.12883A>T	6.37:g.90384187T>A	ENSP00000358400:p.Met4295Leu					MDN1_ENST00000428876.1_Missense_Mutation_p.M4295L|RP1-122O8.7_ENST00000438877.1_RNA	p.M4295L			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	79	12998	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	4295					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.12883A>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	13.36	2.214634	0.39102	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.02787	4.16;4.16	5.87	5.87	0.94306	.	0.095560	0.64402	D	0.000001	T	0.01661	0.0053	L	0.49126	1.545	0.33607	D	0.603137	B	0.15719	0.014	B	0.16289	0.015	T	0.48364	-0.9042	10	0.20046	T	0.44	.	16.27	0.82612	0.0:0.0:0.0:1.0	.	4295	Q9NU22	MDN1_HUMAN	L	4295	ENSP00000358400:M4295L;ENSP00000413970:M4295L	ENSP00000358400:M4295L	M	-	1	0	MDN1	90440908	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.599000	0.54045	2.248000	0.74166	0.533000	0.62120	ATG		0.652	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			9	19	0	0	0	0.069234	0	9	19					A	90384187	T	A	90384187	3	1	233	1	0	0	0	0	1	0	0	0	9415	1464	51	5	4003	5	MDN1	6	90384187	Missense_Mutation	SNP	T	TCGA-EL-A3N3-01A-11D-A20C-08		90384187	80730880	7	4973											
CENPW	387103	broad.mit.edu	37	chr6	126661490	126661490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccccgtggctttctaaagcGagtcttcaagcgaaagaagc	10	11	3	1			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr6:126661490G>A	ENST00000368328.4	+	1	171	c.71G>A	c.(70-72)cGa>cAa	p.R24Q	CENPW_ENST00000368326.1_Missense_Mutation_p.R24Q|CENPW_ENST00000368325.1_Missense_Mutation_p.R24Q			Q5EE01	CENPW_HUMAN	centromere protein W	24					CENP-A containing nucleosome assembly (GO:0034080)|chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|kinetochore (GO:0000776)|nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(2)|large_intestine(1)|lung(3)	6						TTTCTAAAGCGAGTCTTCAAG	0.542																																						ENST00000368328.4																			0				kidney(2)|large_intestine(1)|lung(3)	6						c.(70-72)cGa>cAa		centromere protein W							87	80	82					6																	126661490		2203	4300	6503	SO:0001583	missense	387103					chromosome, centromeric region|nucleus	DNA binding	g.chr6:126661490G>A	BC039556	CCDS34529.1, CCDS69196.1, CCDS75516.1	6q22.32	2013-11-05	2010-04-16	2010-04-16	ENSG00000203760	ENSG00000203760			21488	protein-coding gene	gene with protein product	"cancer-upregulated gene 2"	611264	"chromosome 6 open reading frame 173"	C6orf173		17610844, 19070575	Standard	NM_001286524		Approved	CUG2	uc003qao.3	Q5EE01	OTTHUMG00000015518	ENST00000368328.4:c.71G>A	6.37:g.126661490G>A	ENSP00000357311:p.Arg24Gln					CENPW_ENST00000368326.1_Missense_Mutation_p.R24Q|CENPW_ENST00000368325.1_Missense_Mutation_p.R24Q	p.R24Q			Q5EE01	CENPW_HUMAN			1	171	+			24					A6NIR0|A6NJC2	Missense_Mutation	SNP	ENST00000368328.4	37	c.71G>A	CCDS34529.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.695973	0.88830	.	.	ENSG00000203760	ENST00000368326;ENST00000368325;ENST00000368328	T	0.35421	1.31	5.32	5.32	0.75619	Histone-fold (1);	0.000000	0.49305	D	0.000142	T	0.30262	0.0759	.	.	.	0.20403	N	0.999906	D	0.69078	0.997	P	0.51193	0.662	T	0.07947	-1.0746	9	0.46703	T	0.11	.	14.3678	0.66817	0.0:0.0:1.0:0.0	.	24	Q5EE01	CENPW_HUMAN	Q	24	ENSP00000357311:R24Q	ENSP00000357308:R24Q	R	+	2	0	CENPW	126703183	0.711000	0.27906	0.494000	0.27515	0.977000	0.68977	2.143000	0.42187	2.767000	0.95098	0.563000	0.77884	CGA		0.542	CENPW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042104.1			26	52	0	0	0	0.134883	0	26	52					A	126661490	G	A	126661490	3	1	233	1	0	0	0	0	1	0	0	0	3244	1058	37	1	73	1	CENPW	6	126661490	Missense_Mutation	SNP	G	TCGA-EL-A3N3-01A-11D-A20C-08	36277303	126661490	44453577	8	4974											
SYNE1	23345	broad.mit.edu	37	chr6	152590391	152590391	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgtggctgttaggtcaaCatcgctctcctccttctcct	8	15	3	0			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr6:152590391C>A	ENST00000367255.5	-	99	19205	c.18604G>T	c.(18604-18606)Gtt>Ttt	p.V6202F	SYNE1_ENST00000423061.1_Missense_Mutation_p.V6131F|SYNE1_ENST00000448038.1_Missense_Mutation_p.V6131F|SYNE1_ENST00000356820.4_Missense_Mutation_p.V726F|SYNE1_ENST00000341594.5_Missense_Mutation_p.V5814F|SYNE1_ENST00000265368.4_Missense_Mutation_p.V6202F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6202					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTTAGGTCAACATCGCTCTCC	0.562										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(18604-18606)Gtt>Ttt		spectrin repeat containing, nuclear envelope 1							166	127	141					6																	152590391		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152590391C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.18604G>T	6.37:g.152590391C>A	ENSP00000356224:p.Val6202Phe	HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Missense_Mutation_p.V6131F|SYNE1_ENST00000356820.4_Missense_Mutation_p.V726F|SYNE1_ENST00000341594.5_Missense_Mutation_p.V5814F|SYNE1_ENST00000265368.4_Missense_Mutation_p.V6202F|SYNE1_ENST00000448038.1_Missense_Mutation_p.V6131F	p.V6202F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	99	19205	-		Ovarian(120;0.0955)	6202					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.18604G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250822	0.39797	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.56611	0.55;0.56;0.45;0.56;0.68;0.86	5.57	4.68	0.58851	.	1.162910	0.06406	N	0.719698	T	0.20861	0.0502	L	0.36672	1.1	0.09310	N	1	B;B;B	0.28605	0.083;0.083;0.217	B;B;B	0.28916	0.027;0.027;0.096	T	0.28490	-1.0042	10	0.10111	T	0.7	.	9.3055	0.37872	0.3673:0.4961:0.1367:0.0	.	6202;6202;6131	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	F	6202;6131;6202;6131;5814;726	ENSP00000356224:V6202F;ENSP00000396024:V6131F;ENSP00000265368:V6202F;ENSP00000390975:V6131F;ENSP00000341887:V5814F;ENSP00000349276:V726F	ENSP00000265368:V6202F	V	-	1	0	SYNE1	152632084	0.000000	0.05858	0.002000	0.10522	0.309000	0.27889	0.962000	0.29280	1.444000	0.47605	0.655000	0.94253	GTT		0.562	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		28	84	1	0	1.08312e-15	0.144211	1.29974e-15	28	84					A	152590391	C	A	152590391	3	1	233	1	0	0	0	0	1	0	0	0	15442	478	17	4	8054	4	SYNE1	6	152590391	Missense_Mutation	SNP	C	TCGA-EL-A3N3-01A-11D-A20C-08	25928901	152590391	18524676	9	4975											
ZNF92	168374	broad.mit.edu	37	chr7	64863789	64863789	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaaataattcatactggagaGaaaccctacaaatgtgaaga	7	6	1	3			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr7:64863789G>A	ENST00000328747.7	+	4	961	c.762G>A	c.(760-762)gaG>gaA	p.E254E	ZNF92_ENST00000431504.1_Silent_p.E178E|ZNF92_ENST00000357512.2_Silent_p.E222E|ZNF92_ENST00000450302.2_Silent_p.E185E	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	254					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				ATACTGGAGAGAAACCCTACA	0.353																																						ENST00000328747.7																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13						c.(760-762)gaG>gaA		zinc finger protein 92							37	41	40					7																	64863789		2152	4257	6409	SO:0001819	synonymous_variant	168374					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:64863789G>A	M61872	CCDS34646.1, CCDS47596.1, CCDS75608.1, CCDS75609.1	7q11.21	2013-01-08	2006-05-12		ENSG00000146757	ENSG00000146757		"Zinc fingers, C2H2-type", "-"	13168	protein-coding gene	gene with protein product		603974	"zinc finger protein 92 (HTF12)"			8467795	Standard	NM_001287533		Approved	HPF12, TF12	uc003ttz.3	Q03936	OTTHUMG00000156557	ENST00000328747.7:c.762G>A	7.37:g.64863789G>A						ZNF92_ENST00000450302.2_Silent_p.E185E|ZNF92_ENST00000431504.1_Silent_p.E178E|ZNF92_ENST00000357512.2_Silent_p.E222E	p.E254E	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN			4	961	+		Lung NSC(55;0.159)	254					A6NNF9|Q8N492|Q8NB35	Silent	SNP	ENST00000328747.7	37	c.762G>A	CCDS34646.1																																																																																				0.353	ZNF92-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344589.2	NM_152626		4	102	0	0	0	0.021553	0	4	102					A	64863789	G	A	64863789	2	1	233	1	0	0	0	0	0	0	0	1	18198	933	33	2		2	ZNF92	7	64863789	Silent	SNP	G	TCGA-EL-A3N3-01A-11D-A20C-08		64863789	94274874	10	4976											
LMTK2	22853	broad.mit.edu	37	chr7	97736519	97736521	+	In_Frame_Del	DEL	GCT	GCT	-													ccgccggcgttgcggcggagGctgctgctgctgctgctggt					rs548021046	byFrequency	TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr7:97736519_97736521delGCT	ENST00000297293.5	+	1	323_325	c.30_32delGCT	c.(28-33)aggctg>agg	p.L16del		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	16					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TGCGGCGGAGGCTGCTGCTGCTG	0.764																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(28-33)agg>ag		lemur tyrosine kinase 2				31,1377		8,15,681						-3.5	0.1		dbSNP_134	2	92,3378		12,68,1655	no	coding	LMTK2	NM_014916.3		20,83,2336	A1A1,A1R,RR		2.6513,2.2017,2.5215				123,4755				SO:0001651	inframe_deletion	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97736519_97736521delGCT	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.30_32delGCT	7.37:g.97736528_97736530delGCT	ENSP00000297293:p.Leu16del						p.RL10del	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			1	323_325	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		10					A4D272|Q75MG7|Q9UPS3	In_Frame_Del	DEL	ENST00000297293.5	37	c.30_32delGCT	CCDS5654.1																																																																																				0.764	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		3	5						3	5	---	---	---	---	-	97736521	GCT	-	97736519	7	5	233	1	0	1	0	1	0	0	0	0	8859	1194	42	0	32	0	LMTK2	7	97736519	In_Frame_Del	DEL	GCT	TCGA-EL-A3N3-01A-11D-A20C-08	32872730	97736519	61402144	11	4977											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		25	82	0	0	0	0.116897	0	25	82					T	140453136	A	T	140453136	3	4	233	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3N3-01A-11D-A20C-08	42716617	140453136	18685527	12	4978											
CDK5	1020	broad.mit.edu	37	chr7	150754217	150754217	+	Frame_Shift_Del	DEL	T	T	-													cgatctcatgagtctcccggTttttggccttgaacacagtt							TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr7:150754217delT	ENST00000485972.1	-	2	749	c.68delA	c.(67-69)aacfs	p.N23fs	SLC4A2_ENST00000485713.1_5'Flank|CDK5_ENST00000297518.4_Frame_Shift_Del_p.N23fs|SLC4A2_ENST00000413384.2_5'Flank	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5	23	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|behavioral response to cocaine (GO:0048148)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|central nervous system neuron development (GO:0021954)|cerebellar cortex formation (GO:0021697)|corpus callosum development (GO:0022038)|cortical actin cytoskeleton organization (GO:0030866)|dendrite morphogenesis (GO:0048813)|embryo development (GO:0009790)|hippocampus development (GO:0021766)|intracellular protein transport (GO:0006886)|layer formation in cerebral cortex (GO:0021819)|motor neuron axon guidance (GO:0008045)|negative regulation of axon extension (GO:0030517)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of proteolysis (GO:0045861)|negative regulation of synaptic plasticity (GO:0031914)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|nucleocytoplasmic transport (GO:0006913)|oligodendrocyte differentiation (GO:0048709)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphorylation (GO:0016310)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein targeting to membrane (GO:0090314)|protein autophosphorylation (GO:0046777)|protein localization to synapse (GO:0035418)|receptor catabolic process (GO:0032801)|receptor clustering (GO:0043113)|regulated secretory pathway (GO:0045055)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|rhythmic process (GO:0048511)|Schwann cell development (GO:0014044)|sensory perception of pain (GO:0019233)|serine phosphorylation of STAT3 protein (GO:0033136)|skeletal muscle tissue development (GO:0007519)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)|visual learning (GO:0008542)	axon (GO:0030424)|cell junction (GO:0030054)|cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|filopodium (GO:0030175)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activator activity (GO:0030549)|ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|ErbB-2 class receptor binding (GO:0005176)|ErbB-3 class receptor binding (GO:0043125)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		AGTCTCCCGGTTTTTGGCCTT	0.582																																						ENST00000485972.1																			0				central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9						c.(67-69)acfs		cyclin-dependent kinase 5							240	237	238					7																	150754217		2036	4194	6230	SO:0001589	frameshift_variant	1020				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity	g.chr7:150754217delT	X66364	CCDS47748.1, CCDS55184.1	7q36	2011-11-08			ENSG00000164885	ENSG00000164885		"Cyclin-dependent kinases"	1774	protein-coding gene	gene with protein product		123831				8275715, 1639063	Standard	NM_001164410		Approved	PSSALRE	uc003wir.2	Q00535	OTTHUMG00000158414	ENST00000485972.1:c.68delA	7.37:g.150754217delT	ENSP00000419782:p.Asn23fs					CDK5_ENST00000297518.4_Frame_Shift_Del_p.N23fs	p.N23fs	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)	2	749	-		Breast(660;0.159)|Ovarian(593;0.182)	23			Protein kinase.		A1XKG3	Frame_Shift_Del	DEL	ENST00000485972.1	37	c.68delA	CCDS47748.1																																																																																				0.582	CDK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350965.3			7	528						7	528	---	---	---	---	-	150754217	T	-	150754217	7	5	233	1	0	1	0	1	0	0	0	0	3142	1725	60	0	854	0	CDK5	7	150754217	Frame_Shift_Del	DEL	T	TCGA-EL-A3N3-01A-11D-A20C-08	10301081	150754217	8384446	13	4979											
LGI3	203190	broad.mit.edu	37	chr8	22009364	22009364	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggtgatgcaatcgaacTcccgcagcggcaggtcctgc	13	13	0	1			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr8:22009364T>C	ENST00000306317.2	-	6	933	c.644A>G	c.(643-645)gAg>gGg	p.E215G	LGI3_ENST00000424267.2_Missense_Mutation_p.E191G	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	215	LRRCT.				exocytosis (GO:0006887)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|extracellular region (GO:0005576)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	catalytic activity (GO:0003824)			endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		GCAATCGAACTCCCGCAGCGG	0.647																																						ENST00000306317.2																			0				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17						c.(643-645)gAg>gGg		leucine-rich repeat LGI family, member 3							68	69	69					8																	22009364		2203	4300	6503	SO:0001583	missense	203190				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome		g.chr8:22009364T>C	AJ487518	CCDS6025.1	8p21.2	2008-07-28			ENSG00000168481	ENSG00000168481			18711	protein-coding gene	gene with protein product		608302				12023020, 18628660	Standard	NM_139278		Approved		uc003xav.3	Q8N145	OTTHUMG00000131599	ENST00000306317.2:c.644A>G	8.37:g.22009364T>C	ENSP00000302297:p.Glu215Gly					LGI3_ENST00000424267.2_Missense_Mutation_p.E191G	p.E215G	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN		Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)	6	933	-			215			LRRCT.		A5PLP2|Q86TL4|Q8N296	Missense_Mutation	SNP	ENST00000306317.2	37	c.644A>G	CCDS6025.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.174564	0.57692	.	.	ENSG00000168481	ENST00000306317;ENST00000424267;ENST00000517694	T;T;T	0.69306	-0.13;-0.39;0.13	4.85	4.85	0.62838	Cysteine-rich flanking region, C-terminal (1);	0.189210	0.44902	D	0.000401	T	0.57066	0.2028	L	0.54908	1.71	0.46222	D	0.998939	P;P	0.42409	0.779;0.462	B;B	0.32393	0.145;0.084	T	0.64495	-0.6394	10	0.66056	D	0.02	-20.3035	12.3904	0.55355	0.0:0.0:0.0:1.0	.	191;215	A5PLP2;Q8N145	.;LGI3_HUMAN	G	215;191;176	ENSP00000302297:E215G;ENSP00000399121:E191G;ENSP00000427817:E176G	ENSP00000302297:E215G	E	-	2	0	LGI3	22065309	1.000000	0.71417	0.999000	0.59377	0.602000	0.36980	6.204000	0.72143	1.808000	0.52836	0.379000	0.24179	GAG		0.647	LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254482.1			52	133	0	0	0	0.139131	0	52	133					C	22009364	T	C	22009364	3	2	233	1	0	0	0	0	1	0	0	0	8753	1551	54	3	1014	3	LGI3	8	22009364	Missense_Mutation	SNP	T	TCGA-EL-A3N3-01A-11D-A20C-08		22009364	124354658	14	4980											
PTPLAD2	401494	broad.mit.edu	37	chr9	21007045	21007046	+	Frame_Shift_Ins	INS	-	-	T													atgctgtacttcacatcttcINSttttttttaatgggaaagat							TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr9:21007045_21007046insT	ENST00000495827.2	-	7	734_735	c.689_690insA	c.(688-690)aagfs	p.K230fs	PTPLAD2_ENST00000513293.2_Frame_Shift_Ins_p.K230fs	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain containing 2	230	Poly-Lys.				fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		TTCACATCTTCTTTTTTTTAAT	0.371																																						ENST00000495827.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						c.(688-690)aaafs		protein tyrosine phosphatase-like A domain containing 2																																				SO:0001589	frameshift_variant	401494				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity	g.chr9:21007045_21007046insT		CCDS43791.1	9p21.3	2008-02-05			ENSG00000188921	ENSG00000188921			20920	protein-coding gene	gene with protein product		615941					Standard	NM_001010915		Approved	Em:AL662879.1, OTTHUMG00000021016	uc010mir.1	Q5VWC8	OTTHUMG00000021016	ENST00000495827.2:c.690dupA	9.37:g.21007053_21007053dupT	ENSP00000419503:p.Lys230fs					PTPLAD2_ENST00000513293.2_Frame_Shift_Ins_p.K230fs	p.K230fs	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN		Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)	7	734_735	-			230			Poly-Lys.		Q7Z385	Frame_Shift_Ins	INS	ENST00000495827.2	37	c.689_690insA	CCDS43791.1																																																																																				0.371	PTPLAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055434.3	NM_001010915		8	142						8	142	---	---	---	---	T	21007046	-	T	21007045	7	5	233	1	0	1	1	0	0	0	0	0	12776	912	32	0	12	0	PTPLAD2	9	21007045	Frame_Shift_Ins	INS	-	TCGA-EL-A3N3-01A-11D-A20C-08		21007045	120206386	15	4981											
FAM22F	54754	broad.mit.edu	37	chr9	97082748	97082748	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgggtggtggcaggtgggcGttggtctccgctggcctctg	19	10	2	0	rs201613053	byFrequency	TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr9:97082748G>C	ENST00000253262.4	-	5	1130	c.1110C>G	c.(1108-1110)aaC>aaG	p.N370K	NUTM2F_ENST00000341207.4_Intron|NUTM2F_ENST00000335456.7_Intron	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	370	Pro-rich.																GCAGGTGGGCGTTGGTCTCCG	0.692													.|||	6	0.00119808	0	0.0014	5008	,	,		14263	0.001		0.004	False		,,,				2504	0					ENST00000253262.4																			0											c.(1108-1110)aaC>aaG		NUT family member 2F		C	LYS/ASN	3,4007		0,3,2002	31	40	37		1110	0.1	0.0	9		37	27,8289		0,27,4131	no	missense	FAM22F	NM_017561.1	94	0,30,6133	CC,CG,GG		0.3247,0.0748,0.2434	benign	370/757	97082748	30,12296	2005	4158	6163	SO:0001583	missense	54754							g.chr9:97082748G>C		CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"family with sequence similarity 22, member F"	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.1110C>G	9.37:g.97082748G>C	ENSP00000253262:p.Asn370Lys					NUTM2F_ENST00000341207.4_Intron|NUTM2F_ENST00000335456.7_Intron	p.N370K	NM_017561.1	NP_060031.1					5	1130	-								B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Missense_Mutation	SNP	ENST00000253262.4	37	c.1110C>G	CCDS47994.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.463894	0.00171	7.48E-4	0.003247	ENSG00000130950	ENST00000253262	T	0.10382	2.88	0.1	0.1	0.14510	.	1.449150	0.04340	N	0.353820	T	0.03011	0.0089	N	0.01352	-0.895	0.54753	D	0.999988	B	0.02656	0.0	B	0.01281	0.0	T	0.51474	-0.8701	9	0.02654	T	1	.	.	.	.	.	370	A1L443	FA22F_HUMAN	K	370	ENSP00000253262:N370K	ENSP00000253262:N370K	N	-	3	2	FAM22F	96122569	0.245000	0.23899	0.025000	0.17156	0.024000	0.10985	-1.291000	0.02775	-1.203000	0.02652	-1.201000	0.01664	AAC		0.692	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053173.2	NM_017561		3	80	0	0	0	0.115264	0	3	80					C	97082748	G	C	97082748	3	2	233	1	0	0	0	0	1	0	0	0	5545	1136	40	4	1172	4	FAM22F	9	97082748	Missense_Mutation	SNP	G	TCGA-EL-A3N3-01A-11D-A20C-08	76075703	97082748	44130683	16	4982											
DTX1	1840	broad.mit.edu	37	chr12	113532726	113532726	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgtaccacctgctgtgcctcGtggccatgtactccaatggc	10	14	0	0			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr12:113532726G>C	ENST00000257600.3	+	6	1863	c.1360G>C	c.(1360-1362)Gtg>Ctg	p.V454L	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	454					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GCTGTGCCTCGTGGCCATGTA	0.657																																						ENST00000257600.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(1360-1362)Gtg>Ctg		deltex homolog 1 (Drosophila)							51	42	45					12																	113532726		2203	4300	6503	SO:0001583	missense	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113532726G>C	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"deltex homolog 1 (Drosophila)"			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1360G>C	12.37:g.113532726G>C	ENSP00000257600:p.Val454Leu					DTX1_ENST00000547974.1_3'UTR	p.V454L	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN			6	1863	+			454					O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.1360G>C	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	G	5.364	0.252388	0.10185	.	.	ENSG00000135144	ENST00000257600	T	0.39592	1.07	4.14	4.14	0.48551	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.141030	0.46758	D	0.000270	T	0.24547	0.0595	N	0.16166	0.38	0.39199	D	0.963117	B	0.16802	0.019	B	0.24155	0.051	T	0.10613	-1.0622	10	0.02654	T	1	-12.4377	15.2059	0.73177	0.0:0.0:1.0:0.0	.	454	Q86Y01	DTX1_HUMAN	L	454	ENSP00000257600:V454L	ENSP00000257600:V454L	V	+	1	0	DTX1	112017109	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.147000	0.50639	1.852000	0.53769	0.456000	0.33151	GTG		0.657	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			49	94	0	0	0	0.139131	0	49	94					C	113532726	G	C	113532726	3	2	233	1	0	0	0	0	1	0	0	0	4793	1145	40	4	1382	4	DTX1	12	113532726	Missense_Mutation	SNP	G	TCGA-EL-A3N3-01A-11D-A20C-08		113532726	20319169	17	4983											
RASAL1	8437	broad.mit.edu	37	chr12	113541981	113541981	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccttgcactggaggtaGgtggtgtgcagcgcccccgt	14	13	1	0			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr12:113541981G>A	ENST00000261729.5	-	18	2265	c.1950C>T	c.(1948-1950)acC>acT	p.T650T	RASAL1_ENST00000446861.3_Silent_p.T622T|RASAL1_ENST00000546530.1_Silent_p.T652T|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Silent_p.T651T			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	650	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						ACTGGAGGTAGGTGGTGTGCA	0.697																																						ENST00000546530.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						c.(1954-1956)acC>acT		RAS protein activator like 1 (GAP1 like)							30	28	29					12																	113541981		2203	4298	6501	SO:0001819	synonymous_variant	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113541981G>A	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"Pleckstrin homology (PH) domain containing"	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.1950C>T	12.37:g.113541981G>A						RASAL1_ENST00000446861.3_Silent_p.T622T|RASAL1_ENST00000548055.1_Silent_p.T651T|RASAL1_ENST00000261729.5_Silent_p.T650T|RASAL1_ENST00000418411.2_5'UTR	p.T652T	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN			18	2241	-			650			PH.		B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Silent	SNP	ENST00000261729.5	37	c.1956C>T	CCDS9165.1																																																																																				0.697	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		8	33	0	0	0	0.080935	0	8	33					A	113541981	G	A	113541981	2	1	233	1	0	0	0	0	0	0	0	1	13063	987	35	2		2	RASAL1	12	113541981	Silent	SNP	G	TCGA-EL-A3N3-01A-11D-A20C-08	9255	113541981	20309914	18	4984											
NPIP	9284	broad.mit.edu	37	chr16	15045758	15045759	+	Frame_Shift_Ins	INS	-	-	GT													aatctcaagacacctcccgaINSgtgtctgctcactccccttc					rs573038613	byFrequency	TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr16:15045758_15045759insGT	ENST00000328085.6	+	8	929_930	c.929_930insGT	c.(928-933)gagtgtfs	p.EC310fs	NPIPA1_ENST00000472413.1_3'UTR	NM_006985.2	NP_008916.2	Q9UND3	NPIA1_HUMAN	nuclear pore complex interacting protein family, member A1	310	Pro-rich.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	nuclear pore (GO:0005643)											ACACCTCCCGAGTGTCTGCTCA	0.559																																						ENST00000328085.6																			0											c.(928-930)gtgfs		nuclear pore complex interacting protein family, member A1																																				SO:0001589	frameshift_variant	9284							g.chr16:15045758_15045759insGT	AC002045	CCDS10557.1	16p13.11	2013-06-11	2013-06-11	2013-06-11	ENSG00000183426	ENSG00000183426			7909	protein-coding gene	gene with protein product		606406	"nuclear pore complex interacting protein"	NPIP		11586358, 18055785	Standard	NM_006985		Approved	morpheus	uc002dcy.4	Q9UND3	OTTHUMG00000090663	ENST00000328085.6:c.932_933dupGT	16.37:g.15045761_15045762dupGT	ENSP00000331843:p.Glu310fs					NPIPA1_ENST00000472413.1_3'UTR	p.V310fs	NM_006985.2	NP_008916.2					8	929_930	+								O15102	Frame_Shift_Ins	INS	ENST00000328085.6	37	c.929_930insGT	CCDS10557.1																																																																																				0.559	NPIPA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207326.2	NM_006985		9	289						9	289	---	---	---	---	GT	15045759	-	GT	15045758	7	5	233	1	0	1	1	0	0	0	0	0	10584	304	11	0	959	0	NPIP	16	15045758	Frame_Shift_Ins	INS	-	TCGA-EL-A3N3-01A-11D-A20C-08		15045758	75308995	19	4985											
GATA6	2627	broad.mit.edu	37	chr18	19752073	19752075	+	In_Frame_Del	DEL	ACC	ACC	-													gcggccgctgaacgggacgtAccaccaccaccaccaccacc					rs587780342		TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr18:19752073_19752075delACC	ENST00000269216.3	+	2	1245_1247	c.968_970delACC	c.(967-972)taccac>tac	p.H333del	GATA6_ENST00000581694.1_In_Frame_Del_p.H333del	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	333	Poly-His.				blood coagulation (GO:0007596)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cellular response to BMP stimulus (GO:0071773)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to hypoxia (GO:0071456)|Clara cell differentiation (GO:0060486)|endodermal cell fate determination (GO:0007493)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|liver development (GO:0001889)|lung saccule development (GO:0060430)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|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 beta1 production (GO:0032911)|negative regulation of transforming growth factor beta2 production (GO:0032912)|organ formation (GO:0048645)|outflow tract septum morphogenesis (GO:0003148)|pancreatic A cell differentiation (GO:0003310)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to growth factor (GO:0070848)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)|tube morphogenesis (GO:0035239)|type B pancreatic cell differentiation (GO:0003309)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|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)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			AACGGGACGTaccaccaccacca	0.749																																					Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)	ENST00000269216.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18						c.(967-972)tac>t		GATA binding protein 6				7,118,1445		1,0,5,26,66,687						2.8	1.0			1	3,218,2733		1,0,1,71,76,1328	no	codingComplex	GATA6	NM_005257.3		2,0,6,97,142,2015	A1A1,A1A2,A1R,A2A2,A2R,RR		7.4814,7.9618,7.6481				10,336,4178				SO:0001651	inframe_deletion	2627				blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr18:19752073_19752075delACC	U66075	CCDS11872.1	18q11-q12	2013-01-25	2001-11-28		ENSG00000141448	ENSG00000141448		"GATA zinc finger domain containing"	4174	protein-coding gene	gene with protein product		601656	"GATA-binding protein 6"			8975704	Standard	XM_005258248		Approved		uc002ktt.2	Q92908	OTTHUMG00000131767	ENST00000269216.3:c.968_970delACC	18.37:g.19752082_19752084delACC	ENSP00000269216:p.His333del					GATA6_ENST00000581694.1_In_Frame_Del_p.YH323del	p.YH323del	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	STAD - Stomach adenocarcinoma(5;0.106)		2	1245_1247	+	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		323					B0YJ17|P78327	In_Frame_Del	DEL	ENST00000269216.3	37	c.968_970delACC	CCDS11872.1																																																																																				0.749	GATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254696.1	NM_005257		3	5						3	5	---	---	---	---	-	19752075	ACC	-	19752073	7	5	233	1	0	1	0	1	0	0	0	0	6258	391	14	0	970	0	GATA6	18	19752073	In_Frame_Del	DEL	ACC	TCGA-EL-A3N3-01A-11D-A20C-08		19752073	58325175	20	4986											
TRIM28	10155	broad.mit.edu	37	chr19	59056853	59056853	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gacatcgtggagaattatttCatgcgtgatagtggcagcaa	12	6	1	2			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr19:59056853C>A	ENST00000253024.5	+	2	691	c.402C>A	c.(400-402)ttC>ttA	p.F134L	RN7SL525P_ENST00000579267.1_RNA|TRIM28_ENST00000341753.6_Intron	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	134	RBCC domain.				convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		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;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		AGAATTATTTCATGCGTGATA	0.552																																						ENST00000253024.5																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19						c.(400-402)ttC>ttA		tripartite motif containing 28							91	98	96					19																	59056853		2203	4299	6502	SO:0001583	missense	10155				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding	g.chr19:59056853C>A		CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	16384	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 157"	601742	"tripartite motif-containing 28"			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.402C>A	19.37:g.59056853C>A	ENSP00000253024:p.Phe134Leu					TRIM28_ENST00000341753.6_Intron	p.F134L	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	2	691	+		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)	134			RBCC domain.		O00677|Q7Z632|Q93040|Q96IM1	Missense_Mutation	SNP	ENST00000253024.5	37	c.402C>A	CCDS12985.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158697	0.78226	.	.	ENSG00000130726	ENST00000253024	T	0.66099	-0.19	4.36	-4.31	0.03698	.	0.000000	0.51477	D	0.000086	T	0.57519	0.2059	N	0.20986	0.625	0.80722	D	1	P	0.49447	0.924	P	0.57776	0.827	T	0.60845	-0.7182	10	0.87932	D	0	-13.804	13.3061	0.60352	0.0:0.7558:0.0:0.2442	.	134	Q13263	TIF1B_HUMAN	L	134	ENSP00000253024:F134L	ENSP00000253024:F134L	F	+	3	2	TRIM28	63748665	0.025000	0.19082	0.608000	0.28969	0.945000	0.59286	-1.557000	0.02166	-0.800000	0.04433	-0.389000	0.06534	TTC		0.552	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1	NM_005762		4	216	1	0	0.0215528	0.021553	0.022296	4	216					A	59056853	C	A	59056853	3	1	233	1	0	0	0	0	1	0	0	0	16499	825	29	4	408	4	TRIM28	19	59056853	Missense_Mutation	SNP	C	TCGA-EL-A3N3-01A-11D-A20C-08		59056853	72130	21	4987											
CLTCL1	8218	broad.mit.edu	37	chr22	19195776	19195776	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatataggactcacggcccTttttcctggccatctgcaga	8	13	2	1			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr22:19195776T>C	ENST00000263200.10	-	22	3560	c.3488A>G	c.(3487-3489)aAg>aGg	p.K1163R	CLTCL1_ENST00000427926.1_Missense_Mutation_p.K1163R|CLTCL1_ENST00000353891.5_Missense_Mutation_p.K1163R|CLTCL1_ENST00000442042.2_5'Flank	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1163	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CTCACGGCCCTTTTTCCTGGC	0.403			T	?	ALCL																																	ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"clathrin, heavy polypeptide-like 1"			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(3487-3489)aAg>aGg		clathrin, heavy chain-like 1							89	89	89					22																	19195776		1834	4086	5920	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19195776T>C		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.3488A>G	22.37:g.19195776T>C	ENSP00000445677:p.Lys1163Arg					CLTCL1_ENST00000427926.1_Missense_Mutation_p.K1163R|CLTCL1_ENST00000353891.5_Missense_Mutation_p.K1163R	p.K1163R	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN			22	3560	-	Colorectal(54;0.0993)		1163			Heavy chain arm.|Proximal segment.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.3488A>G	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	T	14.69	2.612046	0.46631	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.21734	1.99;1.99;1.99	4.03	0.206	0.15208	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.344242	0.29314	N	0.012505	T	0.23649	0.0572	M	0.82056	2.57	0.48632	D	0.999685	B;B	0.17268	0.007;0.021	B;B	0.32583	0.132;0.148	T	0.04885	-1.0920	10	0.37606	T	0.19	-5.8071	2.5169	0.04670	0.1819:0.0813:0.137:0.5998	.	1163;1163	P53675-2;P53675	.;CLH2_HUMAN	R	1163	ENSP00000439662:K1163R;ENSP00000445677:K1163R;ENSP00000441158:K1163R	ENSP00000445677:K1163R	K	-	2	0	CLTCL1	17575776	1.000000	0.71417	0.080000	0.20451	0.982000	0.71751	4.242000	0.58714	-0.273000	0.09246	0.528000	0.53228	AAG		0.403	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		3	90	0	0	0	0.150653	0	3	90					C	19195776	T	C	19195776	3	2	233	1	0	0	0	0	1	0	0	0	3567	1609	56	3	1478	3	CLTCL1	22	19195776	Missense_Mutation	SNP	T	TCGA-EL-A3N3-01A-11D-A20C-08		19195776	32108790	22	4988											
TUBGCP6	85378	broad.mit.edu	37	chr22	50659166	50659166	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttccaccgtggccgggTgggagccatgtctgacacag	16	11	1	1			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr22:50659166T>C	ENST00000248846.5	-	16	3726	c.3622A>G	c.(3622-3624)Acc>Gcc	p.T1208A	TUBGCP6_ENST00000439308.2_Missense_Mutation_p.T1208A|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1208	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CGTGGCCGGGTGGGAGCCATG	0.622																																						ENST00000439308.2																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(3622-3624)Acc>Gcc		tubulin, gamma complex associated protein 6							68	62	64					22																	50659166		2203	4300	6503	SO:0001583	missense	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50659166T>C	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.3622A>G	22.37:g.50659166T>C	ENSP00000248846:p.Thr1208Ala					TUBGCP6_ENST00000248846.5_Missense_Mutation_p.T1208A|TUBGCP6_ENST00000491449.1_5'UTR	p.T1208A	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	16	4114	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1208			9 X 27 AA tandem repeats.		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	c.3622A>G	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	N	0.262	-0.998869	0.02128	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.11063	3.2;2.81	4.53	-2.94	0.05581	.	3.633440	0.01029	N	0.004116	T	0.06917	0.0176	N	0.14661	0.345	0.09310	N	1	B;B;B	0.14012	0.0;0.009;0.0	B;B;B	0.17098	0.001;0.017;0.001	T	0.34054	-0.9844	10	0.23302	T	0.38	.	7.6347	0.28259	0.3123:0.4377:0.0:0.25	.	1200;1208;1208	B2RWN4;Q96RT7;Q96RT7-3	.;GCP6_HUMAN;.	A	1208	ENSP00000248846:T1208A;ENSP00000397387:T1208A	ENSP00000248846:T1208A	T	-	1	0	TUBGCP6	49001293	0.000000	0.05858	0.002000	0.10522	0.032000	0.12392	-1.348000	0.02629	-0.593000	0.05844	-0.432000	0.05891	ACC		0.622	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		6	171	0	0	0	0.038147	0	6	171					C	50659166	T	C	50659166	3	2	233	1	0	0	0	0	1	0	0	0	16767	1696	59	3	1877	3	TUBGCP6	22	50659166	Missense_Mutation	SNP	T	TCGA-EL-A3N3-01A-11D-A20C-08	31463390	50659166	645400	23	4989											
FAM47C	442444	broad.mit.edu	37	chrX	37027200	37027200	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtctccacctggagcctccAgagactggagtgtcccatct	10	14	2	1	rs201507521		TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chrX:37027200A>C	ENST00000358047.3	+	1	769	c.717A>C	c.(715-717)ccA>ccC	p.P239P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	239										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TGGAGCCTCCAGAGACTGGAG	0.637																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(715-717)ccA>ccC		family with sequence similarity 47, member C							48	46	47					X																	37027200		2202	4300	6502	SO:0001819	synonymous_variant	442444							g.chrX:37027200A>C	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.717A>C	X.37:g.37027200A>C							p.P239P	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	769	+			239					Q6ZU46	Silent	SNP	ENST00000358047.3	37	c.717A>C	CCDS35227.1																																																																																				0.637	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		4	131	0	0	0	0.150653	0	4	131					C	37027200	A	C	37027200	2	2	233	1	0	0	0	0	0	0	0	1	5571	175	7	5		5	FAM47C	23	37027200	Silent	SNP	A	TCGA-EL-A3N3-01A-11D-A20C-08		37027200	118243360	24	4990											
FAM47C	442444	broad.mit.edu	37	chrX	37027870	37027870	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agactcgggtgtccagtctcCacctggagcctcctgagact	11	14	1	2	rs140431595		TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chrX:37027870C>A	ENST00000358047.3	+	1	1439	c.1387C>A	c.(1387-1389)Cac>Aac	p.H463N		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	463										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GTCCAGTCTCCACCTGGAGCC	0.632																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1387-1389)Cac>Aac		family with sequence similarity 47, member C							61	60	60					X																	37027870		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37027870C>A	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1387C>A	X.37:g.37027870C>A	ENSP00000367913:p.His463Asn						p.H463N	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1439	+			463					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1387C>A	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	c	9.239	1.037873	0.19669	.	.	ENSG00000198173	ENST00000358047	T	0.18960	2.18	1.44	1.44	0.22558	.	.	.	.	.	T	0.12390	0.0301	N	0.19112	0.55	0.18873	N	0.999989	B	0.24258	0.1	B	0.26416	0.069	T	0.36187	-0.9758	9	0.18276	T	0.48	.	8.6787	0.34196	0.0:1.0:0.0:0.0	.	463	Q5HY64	FA47C_HUMAN	N	463	ENSP00000367913:H463N	ENSP00000367913:H463N	H	+	1	0	FAM47C	36937791	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	0.021000	0.13489	0.638000	0.30545	0.458000	0.33432	CAC		0.632	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		4	145	1	0	0.000602214	0.014758	0.00064523	4	145					A	37027870	C	A	37027870	3	1	233	1	0	0	0	0	1	0	0	0	5571	594	21	4	1389	4	FAM47C	23	37027870	Missense_Mutation	SNP	C	TCGA-EL-A3N3-01A-11D-A20C-08	670	37027870	118242690	25	4991											
HUWE1	10075	broad.mit.edu	37	chrX	53652121	53652121	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tatctggaatcaaataccatGtcgtatgccatctgagaaag	8	8	3	1			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chrX:53652121G>C	ENST00000342160.3	-	17	2045	c.1588C>G	c.(1588-1590)Cat>Gat	p.H530D	HUWE1_ENST00000262854.6_Missense_Mutation_p.H530D|HUWE1_ENST00000218328.8_Missense_Mutation_p.H530D			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	530					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CAAATACCATGTCGTATGCCA	0.408																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(1588-1590)Cat>Gat		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							124	118	120					X																	53652121		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53652121G>C	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.1588C>G	X.37:g.53652121G>C	ENSP00000340648:p.His530Asp					HUWE1_ENST00000218328.8_Missense_Mutation_p.H530D|HUWE1_ENST00000262854.6_Missense_Mutation_p.H530D	p.H530D			Q7Z6Z7	HUWE1_HUMAN			17	2045	-			530					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.1588C>G	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.109351|4.109351	0.77096|0.77096	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328;ENST00000396323|ENST00000424562	T;T;T|.	0.39056|.	1.1;1.1;1.1|.	5.4|5.4	5.4|5.4	0.78164|0.78164	E3 ubiquitin ligase, domain of unknown function DUF913 (1);Armadillo-type fold (1);|.	0.135412|.	0.47852|.	D|.	0.000206|.	T|T	0.74435|0.74435	0.3716|0.3716	M|M	0.70275|0.70275	2.135|2.135	0.80722|0.80722	D|D	1|1	D|.	0.65815|.	0.995|.	P|.	0.62740|.	0.906|.	T|T	0.74500|0.74500	-0.3645|-0.3645	10|5	0.36615|.	T|.	0.2|.	.|.	16.9078|16.9078	0.86132|0.86132	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	530|.	Q7Z6Z7|.	HUWE1_HUMAN|.	D|R	530;530;530;237|208	ENSP00000340648:H530D;ENSP00000262854:H530D;ENSP00000218328:H530D|.	ENSP00000218328:H530D|.	H|T	-|-	1|2	0|0	HUWE1|HUWE1	53668846|53668846	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.959000|0.959000	0.62525|0.62525	9.383000|9.383000	0.97214|0.97214	2.254000|2.254000	0.74563|0.74563	0.600000|0.600000	0.82982|0.82982	CAT|ACA		0.408	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		4	131	0	0	0	0.021553	0	4	131					C	53652121	G	C	53652121	3	2	233	1	0	0	0	0	1	0	0	0	7461	1377	48	4	11804	4	HUWE1	23	53652121	Missense_Mutation	SNP	G	TCGA-EL-A3N3-01A-11D-A20C-08	16624251	53652121	101618439	26	4992											
MAGEE2	139599	broad.mit.edu	37	chrX	75004811	75004811	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcgttagtagcttgtaTttcacctctgccgtcgccgt	12	11	2	0			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chrX:75004811T>C	ENST00000373359.2	-	1	268	c.76A>G	c.(76-78)Ata>Gta	p.I26V		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	26										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTAGCTTGTATTTCACCTCTG	0.572																																						ENST00000373359.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(76-78)Ata>Gta		melanoma antigen family E, 2							41	32	35					X																	75004811		2202	4300	6502	SO:0001583	missense	139599							g.chrX:75004811T>C	AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.76A>G	X.37:g.75004811T>C	ENSP00000362457:p.Ile26Val						p.I26V	NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN			1	268	-			26					Q5JSI5	Missense_Mutation	SNP	ENST00000373359.2	37	c.76A>G	CCDS14431.1	.	.	.	.	.	.	.	.	.	.	T	9.523	1.108753	0.20714	.	.	ENSG00000186675	ENST00000373359	T	0.03441	3.93	2.86	1.7	0.24286	.	.	.	.	.	T	0.01870	0.0059	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48833	-0.9000	9	0.23302	T	0.38	.	4.1157	0.10081	0.0:0.1691:0.0:0.8309	.	26	Q8TD90	MAGE2_HUMAN	V	26	ENSP00000362457:I26V	ENSP00000362457:I26V	I	-	1	0	MAGEE2	74921536	0.886000	0.30341	0.088000	0.20740	0.049000	0.14656	0.414000	0.21164	0.391000	0.25143	0.412000	0.27726	ATA		0.572	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	NM_138703		19	65	0	0	0	0.055883	0	19	65					C	75004811	T	C	75004811	3	2	233	1	0	0	0	0	1	0	0	0	9186	1493	52	3	1499	3	MAGEE2	23	75004811	Missense_Mutation	SNP	T	TCGA-EL-A3N3-01A-11D-A20C-08	21352690	75004811	80265749	27	4993											
LCK	3932	broad.mit.edu	37	chr1	32739980	32739980	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatgactggatggaaaacaTcgatgtgtgtgagaactgcc	13	6	0	3			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr1:32739980T>C	ENST00000336890.5	+	2	188	c.50T>C	c.(49-51)aTc>aCc	p.I17T	LCK_ENST00000333070.4_Missense_Mutation_p.I17T|LCK_ENST00000373564.3_Missense_Mutation_p.I17T	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	17	Interactions with CD4 and CD8. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	ATGGAAAACATCGATGTGTGT	0.577			T	TRB@	T-ALL																																	ENST00000333070.4				Dom	yes		1	1p35-p34.3	3932	T	lymphocyte-specific protein tyrosine kinase			L	TRB@		T-ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(49-51)aTc>aCc		lymphocyte-specific protein tyrosine kinase	Dasatinib(DB01254)						116	101	106					1																	32739980		2203	4300	6503	SO:0001583	missense	3932				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding	g.chr1:32739980T>C	M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"SH2 domain containing"	6524	protein-coding gene	gene with protein product		153390	"lymphocyte-specific protein tyrosine kinase"			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.50T>C	1.37:g.32739980T>C	ENSP00000337825:p.Ile17Thr					LCK_ENST00000373564.3_Missense_Mutation_p.I17T|LCK_ENST00000336890.5_Missense_Mutation_p.I17T	p.I17T	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN			2	150	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)	17			Interactions with CD4 and CD8 (By similarity).		D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Missense_Mutation	SNP	ENST00000336890.5	37	c.50T>C	CCDS359.1	.	.	.	.	.	.	.	.	.	.	t	9.269	1.045145	0.19748	.	.	ENSG00000182866	ENST00000336890;ENST00000482949;ENST00000495610;ENST00000461712;ENST00000373562;ENST00000477031;ENST00000373557;ENST00000333070;ENST00000436824;ENST00000373564	T;T;T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56	5.03	5.03	0.67393	.	0.201710	0.33572	N	0.004776	T	0.45915	0.1366	L	0.50333	1.59	0.33410	D	0.578493	B;B;B;B	0.32693	0.323;0.346;0.38;0.204	B;B;B;B	0.33454	0.079;0.052;0.164;0.035	T	0.55679	-0.8103	10	0.15952	T	0.53	.	13.9372	0.64032	0.0:0.0:0.0:1.0	.	61;17;17;17	E7EN21;Q573B4;P06239-3;P06239	.;.;.;LCK_HUMAN	T	17;17;17;17;17;61;61;17;61;17	ENSP00000337825:I17T;ENSP00000431517:I17T;ENSP00000435605:I17T;ENSP00000434525:I17T;ENSP00000362663:I17T;ENSP00000436554:I61T;ENSP00000362658:I61T;ENSP00000328213:I17T;ENSP00000362665:I17T	ENSP00000328213:I17T	I	+	2	0	LCK	32512567	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	5.969000	0.70422	2.037000	0.60232	0.399000	0.26434	ATC		0.577	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019616.4	NM_005356		4	215	0	0	0	1	0	4	215					C	32739980	T	C	32739980	3	2	234	1	0	0	0	0	1	0	0	0	8676	1435	50	3	52	3	LCK	1	32739980	Missense_Mutation	SNP	T	TCGA-EL-A3T0-01A-22D-A22D-08		32739980	216510641	1	4994											
IL12RB2	3595	broad.mit.edu	37	chr1	67833673	67833673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtccctctaaactggctacGgagtcgaccctacaatgtgt	10	12	1	0			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr1:67833673G>A	ENST00000262345.1	+	10	2064	c.1424G>A	c.(1423-1425)cGg>cAg	p.R475Q	IL12RB2_ENST00000544434.1_Missense_Mutation_p.R475Q|IL12RB2_ENST00000371000.1_Missense_Mutation_p.R475Q|IL12RB2_ENST00000541374.1_Missense_Mutation_p.R475Q	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	475	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						AACTGGCTACGGAGTCGACCC	0.507																																						ENST00000262345.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						c.(1423-1425)cGg>cAg		interleukin 12 receptor, beta 2							152	134	140					1																	67833673		2203	4300	6503	SO:0001583	missense	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67833673G>A	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.1424G>A	1.37:g.67833673G>A	ENSP00000262345:p.Arg475Gln					IL12RB2_ENST00000371000.1_Missense_Mutation_p.R475Q|IL12RB2_ENST00000541374.1_Missense_Mutation_p.R475Q|IL12RB2_ENST00000544434.1_Missense_Mutation_p.R475Q	p.R475Q	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN			10	2064	+			475			Fibronectin type-III 4.		B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	c.1424G>A	CCDS638.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289070	0.59976	.	.	ENSG00000081985	ENST00000262345;ENST00000371000;ENST00000541374;ENST00000544434	T;T;T;T	0.56941	0.43;0.43;0.43;1.71	5.02	5.02	0.67125	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.298342	0.35525	N	0.003153	T	0.61009	0.2313	M	0.71206	2.165	0.30282	N	0.791213	D;D;D;D	0.89917	0.984;1.0;1.0;1.0	P;D;D;D	0.69824	0.788;0.963;0.966;0.934	T	0.58629	-0.7603	10	0.48119	T	0.1	-8.8914	13.709	0.62656	0.0:0.0:1.0:0.0	.	475;475;475;475	B4DGA4;F5H7L6;Q99665-2;Q99665	.;.;.;I12R2_HUMAN	Q	475	ENSP00000262345:R475Q;ENSP00000360039:R475Q;ENSP00000445276:R475Q;ENSP00000442443:R475Q	ENSP00000262345:R475Q	R	+	2	0	IL12RB2	67606261	0.880000	0.30214	0.472000	0.27241	0.162000	0.22319	2.984000	0.49353	2.607000	0.88179	0.655000	0.94253	CGG		0.507	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		19	103	0	0	0	1	0	19	103					A	67833673	G	A	67833673	3	1	234	1	0	0	0	0	1	0	0	0	7627	1116	39	1	1458	1	IL12RB2	1	67833673	Missense_Mutation	SNP	G	TCGA-EL-A3T0-01A-22D-A22D-08	35093693	67833673	181416948	2	4995											
LBH	81606	broad.mit.edu	37	chr2	30457303	30457303	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagatcggccaagatgactgAggtgatgatgaacacccagc	13	9	0	7			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr2:30457303A>G	ENST00000395323.3	+	2	267	c.59A>G	c.(58-60)gAg>gGg	p.E20G	LBH_ENST00000406087.1_Missense_Mutation_p.E20G|LBH_ENST00000407930.2_Missense_Mutation_p.E3G|LBH_ENST00000467242.1_3'UTR|LBH_ENST00000401506.1_Missense_Mutation_p.E26G|LBH_ENST00000404397.1_Missense_Mutation_p.E20G	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN	limb bud and heart development	20					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					AAGATGACTGAGGTGATGATG	0.537																																						ENST00000395323.3																			0				endometrium(2)|large_intestine(1)|lung(2)	5						c.(58-60)gAg>gGg		limb bud and heart development							146	122	130					2																	30457303		2203	4300	6503	SO:0001583	missense	81606				multicellular organismal development|transcription, DNA-dependent	cytoplasm|nucleolus		g.chr2:30457303A>G	AF110224	CCDS33173.1	2p23.1	2012-12-07	2012-12-07		ENSG00000213626	ENSG00000213626			29532	protein-coding gene	gene with protein product		611763	"limb bud and heart development homolog (mouse)"			11230166, 11336496	Standard	NM_030915		Approved		uc002rne.2	Q53QV2	OTTHUMG00000152051	ENST00000395323.3:c.59A>G	2.37:g.30457303A>G	ENSP00000378733:p.Glu20Gly					LBH_ENST00000407930.2_Missense_Mutation_p.E3G|LBH_ENST00000467242.1_3'UTR|LBH_ENST00000406087.1_Missense_Mutation_p.E20G|LBH_ENST00000404397.1_Missense_Mutation_p.E20G|LBH_ENST00000401506.1_Missense_Mutation_p.E26G	p.E20G	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN			2	267	+	Acute lymphoblastic leukemia(172;0.155)		20					B2RBC2|Q9H0Q1	Missense_Mutation	SNP	ENST00000395323.3	37	c.59A>G	CCDS33173.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.042058	0.75732	.	.	ENSG00000213626	ENST00000395323;ENST00000406087;ENST00000404397;ENST00000401506;ENST00000407930	.	.	.	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.70133	0.3189	M	0.66939	2.045	0.50171	D	0.999854	D	0.63880	0.993	D	0.63033	0.91	T	0.73833	-0.3858	9	0.87932	D	0	-20.5435	11.7103	0.51620	1.0:0.0:0.0:0.0	.	20	Q53QV2	LBH_HUMAN	G	20;20;20;26;3	.	ENSP00000378733:E20G	E	+	2	0	LBH	30310807	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.723000	0.74742	1.649000	0.50652	0.374000	0.22700	GAG		0.537	LBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325091.1	NM_030915		3	164	0	0	0	1	0	3	164					G	30457303	A	G	30457303	3	3	234	1	0	0	0	0	1	0	0	0	8650	304	11	3	65	3	LBH	2	30457303	Missense_Mutation	SNP	A	TCGA-EL-A3T0-01A-22D-A22D-08		30457303	212742070	3	4996											
NLRC4	58484	broad.mit.edu	37	chr2	32475708	32475708	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gctggacacatcctgcagttCgaaatcaaacttgtgggaga	11	9	1	1	rs144123569		TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr2:32475708C>A	ENST00000404025.2	-	5	1713	c.1225G>T	c.(1225-1227)Gaa>Taa	p.E409*	NLRC4_ENST00000360906.5_Nonsense_Mutation_p.E409*|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Nonsense_Mutation_p.E409*			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	409	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Winged-helix domain (WHD). {ECO:0000250}.				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)	p.E409K(2)		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)					TCCTGCAGTTCGAAATCAAAC	0.473																																						ENST00000404025.2																			2	Substitution - Missense(2)	p.E409K(2)	large_intestine(2)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(1225-1227)Gaa>Taa		NLR family, CARD domain containing 4							55	57	57					2																	32475708		2203	4300	6503	SO:0001587	stop_gained	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.chr2:32475708C>A	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.1225G>T	2.37:g.32475708C>A	ENSP00000385090:p.Glu409*					NLRC4_ENST00000402280.1_Nonsense_Mutation_p.E409*|NLRC4_ENST00000360906.5_Nonsense_Mutation_p.E409*|NLRC4_ENST00000342905.6_Intron	p.E409*			Q9NPP4	NLRC4_HUMAN			5	1713	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		409			NACHT.		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Nonsense_Mutation	SNP	ENST00000404025.2	37	c.1225G>T	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.519843	0.44866	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	.	.	.	2.97	-1.66	0.08265	.	1.102920	0.07138	N	0.846839	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	6.1007	0.20045	0.0:0.3531:0.3734:0.2735	.	.	.	.	X	409	.	ENSP00000354159:E409X	E	-	1	0	NLRC4	32329212	0.030000	0.19436	0.003000	0.11579	0.006000	0.05464	-0.681000	0.05191	-0.970000	0.03569	-2.441000	0.00211	GAA		0.473	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		3	37	1	0	1	1	1	3	37					A	32475708	C	A	32475708	4	1	234	1	0	0	0	0	0	1	0	0	10469	893	31	4	1873	4	NLRC4	2	32475708	Nonsense_Mutation	SNP	C	TCGA-EL-A3T0-01A-22D-A22D-08	2018405	32475708	210723665	4	4997											
EIF2B5	8893	broad.mit.edu	37	chr3	183856019	183856019	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttactggattgtcatatcagCatctgttctcctcaggtgag	9	9	5	1			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr3:183856019C>T	ENST00000273783.3	+	5	872	c.750C>T	c.(748-750)agC>agT	p.S250S	RP11-778D9.12_ENST00000608135.1_RNA|EIF2B5_ENST00000444495.1_Silent_p.S250S	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	250					astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GTCATATCAGCATCTGTTCTC	0.468																																						ENST00000273783.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27						c.(748-750)agC>agT		eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa							161	147	152					3																	183856019		2203	4300	6503	SO:0001819	synonymous_variant	8893				astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding	g.chr3:183856019C>T	U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.750C>T	3.37:g.183856019C>T						EIF2B5_ENST00000444495.1_Silent_p.S250S	p.S250S	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		5	872	+	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		250					Q541Z1|Q96D04	Silent	SNP	ENST00000273783.3	37	c.750C>T	CCDS3252.1																																																																																				0.468	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1			9	96	0	0	0	1	0	9	96					T	183856019	C	T	183856019	2	4	234	1	0	0	0	0	0	0	0	1	5004	709	25	2		2	EIF2B5	3	183856019	Silent	SNP	C	TCGA-EL-A3T0-01A-22D-A22D-08		183856019	14166411	5	4998											
MOG	4340	broad.mit.edu	37	chr6	29627259	29627259	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctctacagaaatggcaaGgaccaagatggagaccaggc	11	10	1	3			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr6:29627259G>A	ENST00000376917.3	+	2	481	c.252G>A	c.(250-252)aaG>aaA	p.K84K	MOG_ENST00000376898.3_Silent_p.K84K|MOG_ENST00000396701.2_Silent_p.K84K|MOG_ENST00000376888.2_Intron|MOG_ENST00000431798.2_Silent_p.K84K|MOG_ENST00000490427.1_Intron|MOG_ENST00000483013.1_Intron|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000396704.3_Silent_p.K84K|MOG_ENST00000416766.2_Silent_p.K84K|MOG_ENST00000376902.3_Silent_p.K84K|MOG_ENST00000376891.4_Silent_p.K84K|MOG_ENST00000533330.2_Silent_p.K84K|MOG_ENST00000376894.4_Silent_p.K84K|MOG_ENST00000494692.1_Silent_p.K84K	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	84	Ig-like V-type.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GAAATGGCAAGGACCAAGATG	0.547																																						ENST00000376894.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						c.(250-252)aaG>aaA		myelin oligodendrocyte glycoprotein							115	114	114					6																	29627259		1511	2709	4220	SO:0001819	synonymous_variant	4340				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		g.chr6:29627259G>A		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.252G>A	6.37:g.29627259G>A						MOG_ENST00000469603.1_3'UTR|MOG_ENST00000376898.3_Silent_p.K84K|MOG_ENST00000416766.2_Silent_p.K84K|MOG_ENST00000376891.4_Silent_p.K84K|MOG_ENST00000431798.2_Silent_p.K84K|MOG_ENST00000376888.2_Intron|MOG_ENST00000396704.3_Silent_p.K84K|MOG_ENST00000494692.1_Silent_p.K84K|MOG_ENST00000490427.1_Intron|MOG_ENST00000396701.2_Silent_p.K84K|MOG_ENST00000376917.3_Silent_p.K84K|MOG_ENST00000376902.3_Silent_p.K84K|MOG_ENST00000533330.2_Silent_p.K84K|MOG_ENST00000483013.1_Intron	p.K84K			Q16653	MOG_HUMAN			2	370	+			84			Ig-like V-type.		A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Silent	SNP	ENST00000376917.3	37	c.252G>A	CCDS34370.1																																																																																				0.547	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		3	139	0	0	0	1	0	3	139					A	29627259	G	A	29627259	2	1	234	1	0	0	0	0	0	0	0	1	9693	991	35	2		2	MOG	6	29627259	Silent	SNP	G	TCGA-EL-A3T0-01A-22D-A22D-08		29627259	141487808	6	4999											
IMPG1	3617	broad.mit.edu	37	chr6	76751728	76751728	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttcgatgctttgccaaatcGaatattcgtctcatagttga	8	8	1	1			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr6:76751728G>A	ENST00000369950.3	-	2	372	c.183C>T	c.(181-183)ttC>ttT	p.F61F	IMPG1_ENST00000369963.3_Intron	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.F61F(1)|p.F61L(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTGCCAAATCGAATATTCGTC	0.368																																					Pancreas(37;839 1141 2599 26037)	ENST00000369950.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.F61F(1)|p.F61L(1)	lung(1)|endometrium(1)	breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(181-183)ttC>ttT		interphotoreceptor matrix proteoglycan 1							184	173	177					6																	76751728		2203	4300	6503	SO:0001819	synonymous_variant	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76751728G>A	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"sialoprotein associated with cones and rods"	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.183C>T	6.37:g.76751728G>A						IMPG1_ENST00000369963.3_Intron	p.F61F	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN			2	372	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	61						Silent	SNP	ENST00000369950.3	37	c.183C>T	CCDS4985.1																																																																																				0.368	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		20	134	0	0	0	1	0	20	134					A	76751728	G	A	76751728	2	1	234	1	0	0	0	0	0	0	0	1	7728	1049	37	1		1	IMPG1	6	76751728	Silent	SNP	G	TCGA-EL-A3T0-01A-22D-A22D-08	47124469	76751728	94363339	7	5000											
VTA1	51534	broad.mit.edu	37	chr6	142468447	142468447	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccgcgcttgcaccgctgcCcccgctccccgcacagttca	10	21	1	0			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr6:142468447C>A	ENST00000367630.4	+	1	81	c.23C>A	c.(22-24)cCc>cAc	p.P8H	VTA1_ENST00000452973.2_5'UTR|VTA1_ENST00000367621.1_5'UTR	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	8	Interaction with CHMP5.|Interaction with IST1.				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)				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		GCACCGCTGCCCCCGCTCCCC	0.612											OREG0017699	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367630.4																			0				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(22-24)cCc>cAc		vesicle (multivesicular body) trafficking 1							78	72	74					6																	142468447		2203	4300	6503	SO:0001583	missense	51534				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding	g.chr6:142468447C>A	AF060225	CCDS5197.1, CCDS69214.1, CCDS75531.1	6q24.1	2013-08-05	2013-08-05	2007-04-03	ENSG00000009844	ENSG00000009844			20954	protein-coding gene	gene with protein product		610902	"chromosome 6 open reading frame 55", "Vps20-associated 1 homolog (S. cerevisiae)"	C6orf55		11489251, 15644320	Standard	NM_001286372		Approved	HSPC228, My012	uc003qiw.3	Q9NP79	OTTHUMG00000015707	ENST00000367630.4:c.23C>A	6.37:g.142468447C>A	ENSP00000356602:p.Pro8His		OREG0017699	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1671	VTA1_ENST00000452973.2_5'UTR|VTA1_ENST00000367621.1_5'UTR	p.P8H	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)	1	81	+	Breast(32;0.155)		8			Interaction with CHMP5.|Interaction with IST1.		B4DW55|E1P594|E7ETQ7|Q5TGM1|Q6IAE8|Q9H0R2|Q9H3K9|Q9P0Q0	Missense_Mutation	SNP	ENST00000367630.4	37	c.23C>A	CCDS5197.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.859472	0.51376	.	.	ENSG00000009844	ENST00000367630;ENST00000427932	T	0.53423	0.62	5.78	5.78	0.91487	.	0.106321	0.64402	D	0.000004	T	0.64505	0.2604	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.66838	-0.5822	10	0.72032	D	0.01	-11.0547	16.9276	0.86180	0.0:1.0:0.0:0.0	.	8	Q9NP79	VTA1_HUMAN	H	8;9	ENSP00000356602:P8H	ENSP00000356602:P8H	P	+	2	0	VTA1	142510140	0.997000	0.39634	0.999000	0.59377	0.366000	0.29705	4.660000	0.61511	2.738000	0.93877	0.591000	0.81541	CCC		0.612	VTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042483.2	NM_016485		4	88	1	0	5.9392e-07	1	6.39606e-07	4	88					A	142468447	C	A	142468447	3	1	234	1	0	0	0	0	1	0	0	0	17230	623	22	4	25	4	VTA1	6	142468447	Missense_Mutation	SNP	C	TCGA-EL-A3T0-01A-22D-A22D-08	65716719	142468447	28646620	8	5001											
KIAA1529	100499483	broad.mit.edu	37	chr9	100092841	100092841	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggatgagtccaaagaaggctCtattcagggactggaagaaa	13	6	2	3			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr9:100092841C>G	ENST00000357054.1	+	32	3550	c.2615C>G	c.(2614-2616)tCt>tGt	p.S872C	CCDC180_ENST00000529487.1_Missense_Mutation_p.S733C|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000375202.2_Missense_Mutation_p.S733C|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000411667.2_Missense_Mutation_p.S730C|RP11-23J9.4_ENST00000534123.1_RNA			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	872	Glu-rich.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											AAAGAAGGCTCTATTCAGGGA	0.463																																						ENST00000375202.2																			0											c.(2197-2199)tCt>tGt		coiled-coil domain containing 180							71	68	69					9																	100092841		2203	4300	6503	SO:0001583	missense	100499483							g.chr9:100092841C>G	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.2615C>G	9.37:g.100092841C>G	ENSP00000349562:p.Ser872Cys					CCDC180_ENST00000529487.1_Missense_Mutation_p.S733C|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000411667.2_Missense_Mutation_p.S730C|CCDC180_ENST00000357054.1_Missense_Mutation_p.S872C|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000460482.2_3'UTR	p.S733C							32	3550	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.2198C>G		.	.	.	.	.	.	.	.	.	.	C	18.06	3.539798	0.65085	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T	0.14144	2.88;2.92;2.53;2.92	5.08	5.08	0.68730	.	0.569160	0.16108	N	0.229225	T	0.32615	0.0835	L	0.56769	1.78	0.09310	N	0.999997	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.72075	0.967;0.976;0.943;0.976;0.967	T	0.05649	-1.0872	10	0.34782	T	0.22	-2.1053	14.7046	0.69179	0.0:1.0:0.0:0.0	.	756;730;872;733;872	Q86Y65;F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;.;CI174_HUMAN	C	872;733;730;756;733	ENSP00000349562:S872C;ENSP00000364348:S733C;ENSP00000414000:S730C;ENSP00000434727:S733C	ENSP00000349562:S872C	S	+	2	0	C9orf174	99132662	0.000000	0.05858	0.079000	0.20413	0.781000	0.44180	0.305000	0.19254	2.751000	0.94390	0.555000	0.69702	TCT		0.463	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		13	27	0	0	0	1	0	13	27					G	100092841	C	G	100092841	3	3	234	1	0	0	0	0	1	0	0	0	8240	913	32	4	2697	4	KIAA1529	9	100092841	Missense_Mutation	SNP	C	TCGA-EL-A3T0-01A-22D-A22D-08		100092841	41120590	9	5002											
MTPAP	55149	broad.mit.edu	37	chr10	30602720	30602720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggataccagcccccagggccGattacttgatatggaaggtc	12	11	0	1			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr10:30602720G>A	ENST00000263063.4	-	9	1610	c.1567C>T	c.(1567-1569)Cgg>Tgg	p.R523W	MTPAP_ENST00000358107.4_Missense_Mutation_p.R653W|MTPAP_ENST00000488290.1_5'UTR	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	523					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CCCCAGGGCCGATTACTTGAT	0.418																																						ENST00000358107.4																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(1957-1959)Cgg>Tgg		mitochondrial poly(A) polymerase							127	123	124					10																	30602720		2203	4300	6503	SO:0001583	missense	55149				cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding	g.chr10:30602720G>A	AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"TUTase1"	613669	"PAP associated domain containing 1"	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.1567C>T	10.37:g.30602720G>A	ENSP00000263063:p.Arg523Trp					MTPAP_ENST00000263063.3_Missense_Mutation_p.R523W|MTPAP_ENST00000488290.1_5'UTR	p.R653W			Q9NVV4	PAPD1_HUMAN			10	1956	-			523					D3DRX0|Q659E3|Q6P7E5|Q9HA74	Missense_Mutation	SNP	ENST00000263063.4	37	c.1957C>T	CCDS7165.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.250973	0.22880	.	.	ENSG00000107951	ENST00000358107;ENST00000263063	T;T	0.32272	2.18;1.46	5.67	5.67	0.87782	.	1.015320	0.07847	N	0.963926	T	0.38026	0.1025	N	0.19112	0.55	0.09310	N	1	D;P	0.76494	0.999;0.837	P;B	0.58970	0.849;0.394	T	0.34502	-0.9826	10	0.52906	T	0.07	-5.377	11.3141	0.49381	0.0:0.1439:0.7242:0.1319	.	653;523	Q9NVV4-2;Q9NVV4	.;PAPD1_HUMAN	W	653;523	ENSP00000350820:R653W;ENSP00000263063:R523W	ENSP00000263063:R523W	R	-	1	2	MTPAP	30642726	0.113000	0.22115	0.747000	0.31113	0.020000	0.10135	1.103000	0.31062	2.670000	0.90874	0.655000	0.94253	CGG		0.418	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047426.2	NM_018109		3	152	0	0	0	1	0	3	152					A	30602720	G	A	30602720	3	1	234	1	0	0	0	0	1	0	0	0	9956	1057	37	1	185	1	MTPAP	10	30602720	Missense_Mutation	SNP	G	TCGA-EL-A3T0-01A-22D-A22D-08		30602720	104932027	10	5003											
ANKRD30A	91074	broad.mit.edu	37	chr10	37414918	37414918	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagaccatcaaccttaataTacaagacgcccagaagaggt	8	10	1	4			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr10:37414918T>C	ENST00000602533.1	+	1	134	c.35T>C	c.(34-36)aTa>aCa	p.I12T	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.I12T|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.I12T			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	68					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AACCTTAATATACAAGACGCC	0.592																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(34-36)aTa>aCa		ankyrin repeat domain 30A							63	63	63					10																	37414918		1867	4102	5969	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37414918T>C	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.35T>C	10.37:g.37414918T>C	ENSP00000473551:p.Ile12Thr					ANKRD30A_ENST00000361713.1_Missense_Mutation_p.I12T|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.I12T	p.I12T			Q9BXX3	AN30A_HUMAN			1	134	+			68					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.35T>C		.	.	.	.	.	.	.	.	.	.	.	0.159	-1.083624	0.01888	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.71579	-0.58;-0.58	0.682	-1.36	0.09085	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.48677	0.1513	N	0.16656	0.425	0.09310	N	1	B	0.23650	0.089	B	0.30782	0.12	T	0.28870	-1.0030	9	0.32370	T	0.25	.	1.7412	0.02952	0.4007:0.2987:0.0:0.3007	.	68	Q9BXX3	AN30A_HUMAN	T	12	ENSP00000354432:I12T;ENSP00000363792:I12T	ENSP00000354432:I12T	I	+	2	0	ANKRD30A	37454924	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.143000	0.10296	-1.695000	0.01423	-0.860000	0.03012	ATA		0.592	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		3	39	0	0	0	1	0	3	39					C	37414918	T	C	37414918	3	2	234	1	0	0	0	0	1	0	0	0	658	1406	49	3	37	3	ANKRD30A	10	37414918	Missense_Mutation	SNP	T	TCGA-EL-A3T0-01A-22D-A22D-08	6812198	37414918	98119829	11	5004											
PTPRJ	5795	broad.mit.edu	37	chr11	48146708	48146708	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aagcagcgaatggcacagaaGgacagccccaggccatagag	13	11	0	2			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr11:48146708G>C	ENST00000418331.2	+	6	1415	c.1063G>C	c.(1063-1065)Gga>Cga	p.G355R	PTPRJ_ENST00000440289.2_Missense_Mutation_p.G355R	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	355	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGGCACAGAAGGACAGCCCCA	0.532																																						ENST00000418331.2																			0				breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1063-1065)Gga>Cga		protein tyrosine phosphatase, receptor type, J							77	85	82					11																	48146708		2201	4298	6499	SO:0001583	missense	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48146708G>C	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.1063G>C	11.37:g.48146708G>C	ENSP00000400010:p.Gly355Arg					PTPRJ_ENST00000440289.2_Missense_Mutation_p.G355R	p.G355R	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN			6	1415	+			355			Fibronectin type-III 3.		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	c.1063G>C	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297048	0.60086	.	.	ENSG00000149177	ENST00000278456;ENST00000418331;ENST00000440289	T;T	0.06449	3.3;3.3	5.38	4.48	0.54585	Fibronectin, type III (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.19167	0.0460	L	0.59436	1.845	0.38401	D	0.945676	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.01081	-1.1458	9	0.72032	D	0.01	.	10.0445	0.42177	0.0925:0.0:0.9075:0.0	.	355;355	Q12913;Q6P4H4	PTPRJ_HUMAN;.	R	355	ENSP00000400010:G355R;ENSP00000409733:G355R	ENSP00000278456:G355R	G	+	1	0	PTPRJ	48103284	1.000000	0.71417	0.132000	0.22025	0.003000	0.03518	4.489000	0.60309	1.271000	0.44313	-0.251000	0.11542	GGA		0.532	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			14	79	0	0	0	1	0	14	79					C	48146708	G	C	48146708	3	2	234	1	0	0	0	0	1	0	0	0	12804	1001	35	4	1085	4	PTPRJ	11	48146708	Missense_Mutation	SNP	G	TCGA-EL-A3T0-01A-22D-A22D-08		48146708	86859808	12	5005											
TM7SF2	7108	broad.mit.edu	37	chr11	64879505	64879506	+	Frame_Shift_Del	DEL	CC	CC	-													accatggcccccactcagggCccccgggccccgctggaatt							TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr11:64879505_64879506delCC	ENST00000279263.7	+	1	180_181	c.18_19delCC	c.(16-21)ggccccfs	p.P7fs	AP003068.9_ENST00000528887.1_RNA|TM7SF2_ENST00000345348.5_Frame_Shift_Del_p.P7fs|TM7SF2_ENST00000540748.1_5'UTR	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	7					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	delta14-sterol reductase activity (GO:0050613)			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCACTCAGGGCCCCCGGGCCCC	0.639																																						ENST00000279263.7																			0				lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(16-21)ggccfs		transmembrane 7 superfamily member 2																																				SO:0001589	frameshift_variant	7108				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity	g.chr11:64879505_64879506delCC	BC012857	CCDS41669.1, CCDS60846.1	11q13.1	2013-05-23			ENSG00000149809	ENSG00000149809	1.3.1.70		11863	protein-coding gene	gene with protein product	"delta(14)-sterol reductase"	603414				9615229, 9286704	Standard	NM_003273		Approved	ANG1, DHCR14A, NET47	uc001oct.4	O76062	OTTHUMG00000165603	ENST00000279263.7:c.18_19delCC	11.37:g.64879507_64879508delCC	ENSP00000279263:p.Pro7fs					TM7SF2_ENST00000540748.1_5'UTR|TM7SF2_ENST00000345348.5_Frame_Shift_Del_p.GP6fs	p.GP6fs	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN			1	180_181	+			6					A8K4H0|O95982|Q8IY06|Q96E64|Q96GZ1	Frame_Shift_Del	DEL	ENST00000279263.7	37	c.18_19delCC	CCDS41669.1																																																																																				0.639	TM7SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385234.1	NM_003273		6	12						6	12	---	---	---	---	-	64879506	CC	-	64879505	7	5	234	1	0	1	0	1	0	0	0	0	15971	726	26	0	20	0	TM7SF2	11	64879505	Frame_Shift_Del	DEL	CC	TCGA-EL-A3T0-01A-22D-A22D-08	16732797	64879505	70127011	13	5006											
MYO7A	4647	broad.mit.edu	37	chr11	76867737	76867737	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggccgggaagacggagagcAcaaagctgatcctgcagttc	15	10	0	3			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr11:76867737A>G	ENST00000409709.3	+	6	774	c.502A>G	c.(502-504)Aca>Gca	p.T168A	MYO7A_ENST00000409619.2_Missense_Mutation_p.T157A|MYO7A_ENST00000409893.1_Missense_Mutation_p.T168A|MYO7A_ENST00000458637.2_Missense_Mutation_p.T168A	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	168	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GACGGAGAGCACAAAGCTGAT	0.617																																						ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(502-504)Aca>Gca		myosin VIIA							73	84	80					11																	76867737		2119	4219	6338	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76867737A>G	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.502A>G	11.37:g.76867737A>G	ENSP00000386331:p.Thr168Ala					MYO7A_ENST00000458637.2_Missense_Mutation_p.T168A|MYO7A_ENST00000409893.1_Missense_Mutation_p.T168A|MYO7A_ENST00000409619.2_Missense_Mutation_p.T157A	p.T168A	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			6	774	+			168			Myosin head-like.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.502A>G	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	a	24.5	4.535280	0.85812	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	4.95	4.95	0.65309	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.89399	0.6704	L	0.35288	1.05	0.80722	D	1	P;D;D	0.89917	0.938;0.991;1.0	P;P;D	0.91635	0.823;0.873;0.999	D	0.88896	0.3349	10	0.38643	T	0.18	.	14.7906	0.69841	1.0:0.0:0.0:0.0	.	168;168;168	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	A	168;168;168;157;167;167;167;167	ENSP00000386331:T168A;ENSP00000386689:T168A;ENSP00000392185:T168A;ENSP00000386635:T157A	ENSP00000345075:T167A	T	+	1	0	MYO7A	76545385	1.000000	0.71417	0.995000	0.50966	0.918000	0.54935	6.182000	0.71995	2.065000	0.61736	0.529000	0.55759	ACA		0.617	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		7	184	0	0	0	1	0	7	184					G	76867737	A	G	76867737	3	3	234	1	0	0	0	0	1	0	0	0	10082	159	6	3	520	3	MYO7A	11	76867737	Missense_Mutation	SNP	A	TCGA-EL-A3T0-01A-22D-A22D-08	11988232	76867737	58138779	14	5007											
PRPF40B	25766	broad.mit.edu	37	chr12	50025258	50025258	+	Frame_Shift_Del	DEL	C	C	-													agtcagagaccaccagctatCccccccatgccacctggcat							TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr12:50025258delC	ENST00000380281.1	+	2	157	c.93delC	c.(91-93)atcfs	p.I31fs	PRPF40B_ENST00000548825.2_Frame_Shift_Del_p.I53fs|PRPF40B_ENST00000261897.1_Frame_Shift_Del_p.I25fs			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	31	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CACCAGCTATCCCCCCCATGC	0.607																																						ENST00000261897.1																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(73-75)atfs		PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)							84	87	86					12																	50025258		2203	4300	6503	SO:0001589	frameshift_variant	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50025258delC	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"Huntingtin interacting protein C"		"PRP40 pre-mRNA processing factor 40 homolog B (yeast)"			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.93delC	12.37:g.50025258delC	ENSP00000369634:p.Ile31fs					PRPF40B_ENST00000380281.1_Frame_Shift_Del_p.I31fs|PRPF40B_ENST00000548825.2_Frame_Shift_Del_p.I53fs	p.I25fs			Q6NWY9	PR40B_HUMAN			2	626	+			31			Pro-rich.		O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Frame_Shift_Del	DEL	ENST00000380281.1	37	c.75delC																																																																																					0.607	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		7	362						7	362	---	---	---	---	-	50025258	C	-	50025258	7	5	234	1	0	1	0	1	0	0	0	0	12572	845	30	0	99	0	PRPF40B	12	50025258	Frame_Shift_Del	DEL	C	TCGA-EL-A3T0-01A-22D-A22D-08		50025258	83826637	15	5008											
C12orf44	60673	broad.mit.edu	37	chr12	52470924	52470924	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcactgatgccctgggcaccTcagtcaccaccaccatgcgc	8	18	3	1			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr12:52470924T>C	ENST00000336854.4	+	4	1085	c.607T>C	c.(607-609)Tca>Cca	p.S203P	OR7E47P_ENST00000546390.1_RNA|RP11-1100L3.7_ENST00000550301.1_RNA	NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN		203					autophagic vacuole assembly (GO:0000045)	pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein complex binding (GO:0032403)			endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		CCTGGGCACCTCAGTCACCAC	0.577																																						ENST00000336854.4																			0				endometrium(1)|lung(2)|ovary(1)	4						c.(607-609)Tca>Cca		chromosome 12 open reading frame 44							90	85	87					12																	52470924		2203	4300	6503	SO:0001583	missense	60673				autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding	g.chr12:52470924T>C																												ENST00000336854.4:c.607T>C	12.37:g.52470924T>C	ENSP00000338990:p.Ser203Pro					RP11-1100L3.7_ENST00000550301.1_RNA	p.S203P	NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0978)	4	1085	+			203					Q9HAE2|Q9HBN1	Missense_Mutation	SNP	ENST00000336854.4	37	c.607T>C	CCDS8820.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.723151	0.89298	.	.	ENSG00000123395	ENST00000336854;ENST00000550984	.	.	.	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.65123	0.2661	L	0.52011	1.625	0.80722	D	1	D	0.69078	0.997	P	0.57101	0.813	T	0.68089	-0.5501	9	0.59425	D	0.04	-12.5173	13.7571	0.62943	0.0:0.0:0.0:1.0	.	203	Q9BSB4	ATGA1_HUMAN	P	203	.	ENSP00000338990:S203P	S	+	1	0	C12orf44	50757191	1.000000	0.71417	0.991000	0.47740	0.919000	0.55068	7.401000	0.79962	2.145000	0.66743	0.533000	0.62120	TCA		0.577	C12orf44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405063.1			3	99	0	0	0	1	0	3	99					C	52470924	T	C	52470924	3	2	234	1	0	0	0	0	1	0	0	0	1690	1551	54	3	613	3	C12orf44	12	52470924	Missense_Mutation	SNP	T	TCGA-EL-A3T0-01A-22D-A22D-08	2445666	52470924	81380971	16	5009											
TMTC4	84899	broad.mit.edu	37	chr13	101278051	101278051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcttactgtatttgaacaGccaaagacagcagctcctca	7	11	1	2			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr13:101278051G>A	ENST00000376234.3	-	13	1814	c.1625C>T	c.(1624-1626)gCt>gTt	p.A542V	TMTC4_ENST00000342624.5_Missense_Mutation_p.A561V|TMTC4_ENST00000328767.5_Missense_Mutation_p.A431V|TMTC4_ENST00000462211.1_5'UTR	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	542						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TATTTGAACAGCCAAAGACAG	0.368																																						ENST00000342624.5																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1681-1683)gCt>gTt		transmembrane and tetratricopeptide repeat containing 4							64	68	67					13																	101278051		2203	4300	6503	SO:0001583	missense	84899					integral to membrane	binding	g.chr13:101278051G>A		CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"Tetratricopeptide (TTC) repeat domain containing"	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.1625C>T	13.37:g.101278051G>A	ENSP00000365408:p.Ala542Val					TMTC4_ENST00000328767.5_Missense_Mutation_p.A431V|TMTC4_ENST00000376234.3_Missense_Mutation_p.A542V|TMTC4_ENST00000462211.1_5'UTR	p.A561V	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN			14	1940	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		542					A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	ENST00000376234.3	37	c.1682C>T	CCDS41904.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885103	0.91814	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.72942	-0.7;-0.7;-0.7	5.77	5.77	0.91146	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.85557	0.5724	M	0.79011	2.435	0.80722	D	1	D;D;D;D	0.89917	0.995;0.999;1.0;1.0	D;D;D;D	0.91635	0.98;0.967;0.999;0.99	D	0.85978	0.1481	10	0.87932	D	0	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	431;542;542;561	B7Z666;Q5T4D3-2;Q5T4D3;Q5T4D3-3	.;.;TMTC4_HUMAN;.	V	542;561;431	ENSP00000365408:A542V;ENSP00000343871:A561V;ENSP00000365409:A431V	ENSP00000365409:A431V	A	-	2	0	TMTC4	100076052	1.000000	0.71417	0.997000	0.53966	0.605000	0.37080	9.813000	0.99286	2.885000	0.99019	0.655000	0.94253	GCT		0.368	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		4	50	0	0	0	1	0	4	50					A	101278051	G	A	101278051	3	1	234	1	0	0	0	0	1	0	0	0	16260	971	34	2	624	2	TMTC4	13	101278051	Missense_Mutation	SNP	G	TCGA-EL-A3T0-01A-22D-A22D-08		101278051	13891827	17	5010											
PRPF39	55015	broad.mit.edu	37	chr14	45579424	45579424	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttttgaggaacagcaggGtaagagtggagaaattcagt	14	4	1	3			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr14:45579424G>A	ENST00000355765.6	+	9	1473		c.e9+1		SNORD127_ENST00000458892.1_RNA	NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						GAACAGCAGGGTAAGAGTGGA	0.418																																						ENST00000355765.6																			0				breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						c.e9+1		pre-mRNA processing factor 39							90	86	87					14																	45579424		2203	4300	6503	SO:0001630	splice_region_variant	55015				mRNA processing|RNA splicing	nucleus	binding	g.chr14:45579424G>A	AK000673	CCDS9682.2	14q21.1	2013-10-03	2013-10-03		ENSG00000185246	ENSG00000185246			20314	protein-coding gene	gene with protein product		614907	"PRP39 pre-mRNA processing factor 39 homolog (yeast)", "PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae)"				Standard	NM_017922		Approved	FLJ20666, FLJ11128	uc001wvz.4	Q86UA1	OTTHUMG00000140265	ENST00000355765.6:c.1303+1G>A	14.37:g.45579424G>A								NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN			9	1473	+								Q08AL1|Q08AL2|Q9NUU5	Splice_Site	SNP	ENST00000355765.6	37		CCDS9682.2	.	.	.	.	.	.	.	.	.	.	G	18.07	3.540507	0.65085	.	.	ENSG00000185246	ENST00000355765	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0642	0.93103	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRPF39	44649174	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	9.869000	0.99810	2.607000	0.88179	0.563000	0.77884	.		0.418	PRPF39-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319683.2		Intron	3	40	0	0	0	1	0	3	40					A	45579424	G	A	45579424	5	1	234	1	0	0	0	0	0	0	1	0	12569	1275	44	2	1334	2	PRPF39	14	45579424	Splice_Site	SNP	G	TCGA-EL-A3T0-01A-22D-A22D-08		45579424	61770116	18	5011											
SYNE2	23224	broad.mit.edu	37	chr14	64599082	64599082	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acagagagacattttgggcaGaacaagtaacagaagttaaa	10	5	0	4			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr14:64599082G>A	ENST00000344113.4	+	77	14652	c.14440G>A	c.(14440-14442)Gaa>Aaa	p.E4814K	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Missense_Mutation_p.E1199K|SYNE2_ENST00000394768.2_Missense_Mutation_p.E1199K|SYNE2_ENST00000554584.1_Missense_Mutation_p.E4731K|SYNE2_ENST00000555002.1_Missense_Mutation_p.E1448K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E4814K	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4814					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATTTTGGGCAGAACAAGTAAC	0.383																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(3595-3597)Gaa>Aaa		spectrin repeat containing, nuclear envelope 2							85	89	88					14																	64599082		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64599082G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.14440G>A	14.37:g.64599082G>A	ENSP00000341781:p.Glu4814Lys					SYNE2_ENST00000344113.4_Missense_Mutation_p.E4814K|SYNE2_ENST00000554584.1_Missense_Mutation_p.E4731K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.E1199K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E4814K|SYNE2_ENST00000555002.1_Missense_Mutation_p.E1448K	p.E1199K			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	78	14739	+			4814					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.3595G>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809246	0.50421	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.59502	0.49;3.8;0.49;0.26;3.84;3.8	5.42	5.42	0.78866	.	0.118800	0.37348	N	0.002127	T	0.67458	0.2895	M	0.68952	2.095	0.80722	D	1	P;P;D	0.53745	0.837;0.895;0.962	P;P;P	0.51657	0.642;0.468;0.676	T	0.70952	-0.4732	10	0.66056	D	0.02	.	16.7248	0.85418	0.0:0.0:1.0:0.0	.	1199;4814;4814	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	K	4814;1199;4814;4731;4731;1448;1199	ENSP00000350719:E4814K;ENSP00000349969:E1199K;ENSP00000341781:E4814K;ENSP00000452570:E4731K;ENSP00000450831:E1448K;ENSP00000378249:E1199K	ENSP00000261678:E4731K	E	+	1	0	SYNE2	63668835	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.663000	0.68038	2.683000	0.91414	0.655000	0.94253	GAA		0.383	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		3	114	0	0	0	1	0	3	114					A	64599082	G	A	64599082	3	1	234	1	0	0	0	0	1	0	0	0	15443	943	33	2	14742	2	SYNE2	14	64599082	Missense_Mutation	SNP	G	TCGA-EL-A3T0-01A-22D-A22D-08	19019658	64599082	42750458	19	5012											
SPTBN5	51332	broad.mit.edu	37	chr15	42159282	42159282	+	Frame_Shift_Del	DEL	G	G	-													gggaagccggtcccgcacccGggggcgccggagcgtcttca							TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr15:42159282delG	ENST00000320955.6	-	36	6582	c.6355delC	c.(6355-6357)cggfs	p.R2119fs	MIR4310_ENST00000582950.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2119					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCCCGCACCCGGGGGCGCCGG	0.731																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(6355-6357)ggfs		spectrin, beta, non-erythrocytic 5							3	4	4					15																	42159282		1644	3720	5364	SO:0001589	frameshift_variant	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42159282delG	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.6355delC	15.37:g.42159282delG	ENSP00000317790:p.Arg2119fs						p.R2119fs	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	36	6582	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	2119						Frame_Shift_Del	DEL	ENST00000320955.6	37	c.6355delC																																																																																					0.731	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		2	4						2	4	---	---	---	---	-	42159282	G	-	42159282	7	5	234	1	0	1	0	1	0	0	0	0	15121	1115	39	0	4801	0	SPTBN5	15	42159282	Frame_Shift_Del	DEL	G	TCGA-EL-A3T0-01A-22D-A22D-08		42159282	60372110	20	5013											
ABCA3	21	broad.mit.edu	37	chr16	2369769	2369769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaacagctggcgtgtggcgGcatcggcatggtactccatg	16	10	0	0			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr16:2369769G>A	ENST00000301732.5	-	8	1386	c.686C>T	c.(685-687)gCc>gTc	p.A229V	ABCA3_ENST00000382381.3_Missense_Mutation_p.A229V	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	229					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	GCGTGTGGCGGCATCGGCATG	0.637																																						ENST00000301732.5																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(685-687)gCc>gTc		ATP-binding cassette, sub-family A (ABC1), member 3							126	99	108					16																	2369769		2198	4300	6498	SO:0001583	missense	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2369769G>A	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.686C>T	16.37:g.2369769G>A	ENSP00000301732:p.Ala229Val					ABCA3_ENST00000382381.3_Missense_Mutation_p.A229V	p.A229V	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			8	1386	-		Ovarian(90;0.17)	229					B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.686C>T	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	G	5.225	0.227069	0.09916	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.90324	-2.65	5.18	3.19	0.36642	.	0.657737	0.16253	N	0.222636	T	0.81029	0.4738	N	0.13043	0.29	0.09310	N	0.999999	B;B;B	0.13594	0.008;0.004;0.008	B;B;B	0.16722	0.016;0.016;0.016	T	0.67098	-0.5756	10	0.28530	T	0.3	.	9.7576	0.40513	0.0:0.2882:0.5627:0.149	.	229;291;229	A7MBM9;Q4LE27;Q99758	.;.;ABCA3_HUMAN	V	229;291	ENSP00000301732:A229V	ENSP00000301732:A229V	A	-	2	0	ABCA3	2309770	0.399000	0.25287	0.001000	0.08648	0.000000	0.00434	3.559000	0.53756	0.746000	0.32786	-0.175000	0.13238	GCC		0.637	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		3	144	0	0	0	1	0	3	144					A	2369769	G	A	2369769	3	1	234	1	0	0	0	0	1	0	0	0	33	1203	42	2	4532	2	ABCA3	16	2369769	Missense_Mutation	SNP	G	TCGA-EL-A3T0-01A-22D-A22D-08		2369769	87984984	21	5014											
CENPT	80152	broad.mit.edu	37	chr16	67862707	67862707	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggtccggggcctagggggAtgcctgaccaacagaggctc	17	11	0	2			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr16:67862707A>G	ENST00000562787.1	-	14	1868	c.1320T>C	c.(1318-1320)caT>caC	p.H440H	CENPT_ENST00000440851.2_Silent_p.H440H|CENPT_ENST00000562947.1_5'Flank|CENPT_ENST00000564817.1_Silent_p.H385H|CENPT_ENST00000219172.3_Silent_p.H440H	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	440					chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		GCCTAGGGGGATGCCTGACCA	0.582																																						ENST00000562787.1																			0				NS(1)|breast(2)|lung(6)|urinary_tract(1)	10						c.(1318-1320)caT>caC		centromere protein T							67	74	72					16																	67862707		1895	4109	6004	SO:0001819	synonymous_variant	80152				mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding	g.chr16:67862707A>G	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"chromosome 16 open reading frame 56"	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.1320T>C	16.37:g.67862707A>G						CENPT_ENST00000564817.1_Silent_p.H385H|CENPT_ENST00000219172.3_Silent_p.H440H|CENPT_ENST00000440851.2_Silent_p.H440H	p.H440H	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)	14	1868	-		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	440					Q96I29|Q96IC6|Q96NK9|Q9H901	Silent	SNP	ENST00000562787.1	37	c.1320T>C	CCDS42182.1																																																																																				0.582	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082		3	138	0	0	0	1	0	3	138					G	67862707	A	G	67862707	2	3	234	1	0	0	0	0	0	0	0	1	3242	330	12	3		3	CENPT	16	67862707	Silent	SNP	A	TCGA-EL-A3T0-01A-22D-A22D-08	65492938	67862707	22492046	22	5015											
ZNF426	79088	broad.mit.edu	37	chr19	9640216	9640216	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcatgagtgttccctgtacTttgagttctcacgtgcgtct	10	10	3	2			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr19:9640216T>C	ENST00000535489.1	-	6	841	c.505A>G	c.(505-507)Agt>Ggt	p.S169G	ZNF426_ENST00000253115.2_Missense_Mutation_p.S169G|ZNF426_ENST00000593003.1_Missense_Mutation_p.S131G|ZNF426_ENST00000589289.1_3'UTR			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	169					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(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TTCCCTGTACTTTGAGTTCTC	0.428																																						ENST00000593003.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(391-393)Agt>Ggt		zinc finger protein 426							124	109	114					19																	9640216		2203	4300	6503	SO:0001583	missense	79088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9640216T>C	AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818		"Zinc fingers, C2H2-type", "-"	20725	protein-coding gene	gene with protein product							Standard	NM_024106		Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000535489.1:c.505A>G	19.37:g.9640216T>C	ENSP00000439017:p.Ser169Gly					ZNF426_ENST00000535489.1_Missense_Mutation_p.S169G|ZNF426_ENST00000589289.1_3'UTR|ZNF426_ENST00000253115.2_Missense_Mutation_p.S169G	p.S131G			Q9BUY5	ZN426_HUMAN			6	868	-			169					B3KTL2	Missense_Mutation	SNP	ENST00000535489.1	37	c.391A>G	CCDS12215.1	.	.	.	.	.	.	.	.	.	.	T	10.43	1.347587	0.24426	.	.	ENSG00000130818	ENST00000545189;ENST00000253115;ENST00000535489	T;T	0.29655	1.56;1.56	1.56	0.518	0.17030	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.27454	0.0674	L	0.52126	1.63	0.18873	N	0.999984	B;B	0.27498	0.067;0.18	B;B	0.33846	0.013;0.171	T	0.36237	-0.9756	9	0.66056	D	0.02	.	4.7789	0.13192	0.0:0.1902:0.0:0.8098	.	156;169	Q59EH4;Q9BUY5	.;ZN426_HUMAN	G	156;169;169	ENSP00000253115:S169G;ENSP00000439017:S169G	ENSP00000253115:S169G	S	-	1	0	ZNF426	9501216	0.001000	0.12720	0.000000	0.03702	0.075000	0.17131	0.432000	0.21461	0.099000	0.17552	0.383000	0.25322	AGT		0.428	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	NM_024106		8	78	0	0	0	1	0	8	78					C	9640216	T	C	9640216	3	2	234	1	0	0	0	0	1	0	0	0	17897	1609	56	3	1163	3	ZNF426	19	9640216	Missense_Mutation	SNP	T	TCGA-EL-A3T0-01A-22D-A22D-08		9640216	49488767	23	5016											
SLC44A2	57153	broad.mit.edu	37	chr19	10741777	10741777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacattgtgaaatgtgccaGccccctggttctgctggaat	10	11	1	1			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr19:10741777G>A	ENST00000335757.5	+	5	666	c.290G>A	c.(289-291)aGc>aAc	p.S97N	SLC44A2_ENST00000407327.4_Missense_Mutation_p.S95N|SLC44A2_ENST00000586078.1_Missense_Mutation_p.S97N			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	97					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	AAATGTGCCAGCCCCCTGGTT	0.463																																						ENST00000586078.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(289-291)aGc>aAc		solute carrier family 44 (choline transporter), member 2	Choline(DB00122)						101	100	100					19																	10741777		2203	4300	6503	SO:0001583	missense	57153				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity	g.chr19:10741777G>A	AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"Solute carriers"	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.290G>A	19.37:g.10741777G>A	ENSP00000336888:p.Ser97Asn					SLC44A2_ENST00000407327.4_Missense_Mutation_p.S95N|SLC44A2_ENST00000335757.5_Missense_Mutation_p.S97N	p.S97N	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		5	399	+			97					B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Missense_Mutation	SNP	ENST00000335757.5	37	c.290G>A	CCDS12245.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833471	0.32421	.	.	ENSG00000129353	ENST00000407327;ENST00000335757;ENST00000380614	T;T	0.17213	2.29;2.29	4.69	3.63	0.41609	.	0.126220	0.64402	N	0.000001	T	0.16428	0.0395	L	0.50847	1.595	0.44531	D	0.997482	B;B	0.06786	0.001;0.0	B;B	0.09377	0.003;0.004	T	0.03863	-1.0997	10	0.30078	T	0.28	.	12.3266	0.55013	0.0853:0.0:0.9147:0.0	.	97;95	Q8IWA5;Q8IWA5-3	CTL2_HUMAN;.	N	95;97;97	ENSP00000385135:S95N;ENSP00000336888:S97N	ENSP00000336888:S97N	S	+	2	0	SLC44A2	10602777	1.000000	0.71417	1.000000	0.80357	0.497000	0.33675	7.232000	0.78116	1.184000	0.42957	0.456000	0.33151	AGC		0.463	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452045.1			3	134	0	0	0	1	0	3	134					A	10741777	G	A	10741777	3	1	234	1	0	0	0	0	1	0	0	0	14636	971	34	2	343	2	SLC44A2	19	10741777	Missense_Mutation	SNP	G	TCGA-EL-A3T0-01A-22D-A22D-08	1101561	10741777	48387206	24	5017											
ZNF878	729747	broad.mit.edu	37	chr19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacgaacagaactgggaaaActgaatgctttcccacactg	8	11	0	2			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr19:12155673A>C	ENST00000547628.1	-	4	680	c.543T>G	c.(541-543)agT>agG	p.S181R	CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.S228R	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAAACTGAATGCTT	0.403																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(682-684)agT>agG		zinc finger protein 878							189	199	196					19																	12155673		2112	4260	6372	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155673A>C		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"Zinc fingers, C2H2-type", "-"	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.543T>G	19.37:g.12155673A>C	ENSP00000447931:p.Ser181Arg					CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R|CTD-2006C1.2_ENST00000591838.1_RNA	p.S228R			C9JN71	ZN878_HUMAN			5	683	-			181						Missense_Mutation	SNP	ENST00000547628.1	37	c.684T>G	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	a	0	-2.730166	0.00089	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.07216	3.21	1.24	-2.47	0.06442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03871	0.0109	N	0.12831	0.26	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.39231	-0.9624	9	0.21540	T	0.41	.	5.2308	0.15420	0.5561:0.2971:0.0:0.1468	.	181	C9JN71	ZN878_HUMAN	R	181;228	ENSP00000447931:S181R	ENSP00000447931:S181R	S	-	3	2	AC022415.4;ZNF878	12016673	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.404000	0.07205	-2.785000	0.00359	-2.885000	0.00097	AGT		0.403	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		5	339	0	0	0	1	0	5	339					C	12155673	A	C	12155673	3	2	234	1	0	0	0	0	1	0	0	0	18193	40	2	5	1056	5	ZNF878	19	12155673	Missense_Mutation	SNP	A	TCGA-EL-A3T0-01A-22D-A22D-08	1413896	12155673	46973310	25	5018											
ZNF791	163049	broad.mit.edu	37	chr19	12739914	12739914	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatactggagagaaaccctAtaaatgtaaagaatgtggga	11	5	0	2			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr19:12739914A>G	ENST00000343325.4	+	4	1733	c.1571A>G	c.(1570-1572)tAt>tGt	p.Y524C	ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Missense_Mutation_p.Y492C|ZNF791_ENST00000540038.1_Missense_Mutation_p.Y415C|ZNF791_ENST00000446165.1_3'UTR|AC010422.1_ENST00000408416.1_RNA	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	524					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(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						GAGAAACCCTATAAATGTAAA	0.388																																						ENST00000343325.4																			0				endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						c.(1570-1572)tAt>tGt		zinc finger protein 791							85	89	87					19																	12739914		2203	4300	6503	SO:0001583	missense	163049				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12739914A>G	AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"Zinc fingers, C2H2-type", "-"	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.1571A>G	19.37:g.12739914A>G	ENSP00000342974:p.Tyr524Cys					ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000540038.1_Missense_Mutation_p.Y415C|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000458122.3_Missense_Mutation_p.Y492C	p.Y524C	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN			4	1733	+			524					B7Z586|Q8NC99	Missense_Mutation	SNP	ENST00000343325.4	37	c.1571A>G	CCDS12273.1	.	.	.	.	.	.	.	.	.	.	A	12.00	1.806439	0.31961	.	.	ENSG00000173875	ENST00000343325;ENST00000458122;ENST00000540038	T;T;T	0.69306	-0.39;-0.39;1.8	1.89	1.89	0.25635	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.78046	0.4222	M	0.81682	2.555	0.19300	N	0.999979	D	0.89917	1.0	D	0.97110	1.0	T	0.63301	-0.6668	9	0.72032	D	0.01	.	4.0738	0.09894	0.6846:0.0:0.0:0.3154	.	524	Q3KP31	ZN791_HUMAN	C	524;492;415	ENSP00000342974:Y524C;ENSP00000441761:Y492C;ENSP00000441038:Y415C	ENSP00000342974:Y524C	Y	+	2	0	ZNF791	12600914	0.023000	0.18921	0.038000	0.18304	0.967000	0.64934	0.622000	0.24433	0.868000	0.35678	0.402000	0.26972	TAT		0.388	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	NM_153358		9	99	0	0	0	1	0	9	99					G	12739914	A	G	12739914	3	3	234	1	0	0	0	0	1	0	0	0	18160	449	16	3	1585	3	ZNF791	19	12739914	Missense_Mutation	SNP	A	TCGA-EL-A3T0-01A-22D-A22D-08	584241	12739914	46389069	26	5019											
TMEM38A	79041	broad.mit.edu	37	chr19	16799119	16799119	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcagcattcggccatgccCgccaagtccaaggaggagtt	12	13	1	0	rs540893827		TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr19:16799119C>T	ENST00000187762.2	+	6	928	c.837C>T	c.(835-837)ccC>ccT	p.P279P		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	279						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						CGGCCATGCCCGCCAAGTCCA	0.657													.|||	1	0.000199681	0	0	5008	,	,		16934	0		0	False		,,,				2504	0.001					ENST00000187762.2																			0				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						c.(835-837)ccC>ccT		transmembrane protein 38A							53	56	55					19																	16799119		2203	4300	6503	SO:0001819	synonymous_variant	79041					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr19:16799119C>T	AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954			28462	protein-coding gene	gene with protein product		611235				17611541	Standard	NM_024074		Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.837C>T	19.37:g.16799119C>T							p.P279P	NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN			6	928	+			279					A8K9P9	Silent	SNP	ENST00000187762.2	37	c.837C>T	CCDS12349.1																																																																																				0.657	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462841.1	NM_024074		25	75	0	0	0	1	0	25	75					T	16799119	C	T	16799119	2	4	234	1	0	0	0	0	0	0	0	1	16156	639	23	1		1	TMEM38A	19	16799119	Silent	SNP	C	TCGA-EL-A3T0-01A-22D-A22D-08	4059205	16799119	42329864	27	5020											
MMP24	10893	broad.mit.edu	37	chr20	33839758	33839758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcacccccacttaagccGtaggcggagaaacaagcgct	10	13	1	2	rs557891491		TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr20:33839758G>A	ENST00000246186.6	+	3	531	c.446G>A	c.(445-447)cGt>cAt	p.R149H	MMP24-AS1_ENST00000566203.2_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000433764.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	149	Poly-Arg.				cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	CACTTAAGCCGTAGGCGGAGA	0.547													G|||	1	0.000199681	0	0.0014	5008	,	,		21605	0		0	False		,,,				2504	0					ENST00000246186.6																			0				NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14						c.(445-447)cGt>cAt		matrix metallopeptidase 24 (membrane-inserted)							138	144	142					20																	33839758		2029	4186	6215	SO:0001583	missense	10893				proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr20:33839758G>A	AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"membrane-type 5 matrix metalloproteinase"	604871	"matrix metalloproteinase 24 (membrane-inserted)"			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.446G>A	20.37:g.33839758G>A	ENSP00000246186:p.Arg149His					EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000566203.1_RNA	p.R149H	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		3	531	+			149			Poly-Arg.		B7ZBG8|Q9H440	Missense_Mutation	SNP	ENST00000246186.6	37	c.446G>A	CCDS46593.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669497	0.47677	.	.	ENSG00000125966	ENST00000246186;ENST00000540655	T	0.17054	2.3	5.19	4.24	0.50183	Metallopeptidase, catalytic domain (1);	0.112422	0.64402	D	0.000012	T	0.17492	0.0420	M	0.64997	1.995	0.34728	D	0.729402	B	0.10296	0.003	B	0.09377	0.004	T	0.10894	-1.0610	10	0.35671	T	0.21	.	8.6868	0.34243	0.2356:0.0:0.7644:0.0	.	149	Q9Y5R2	MMP24_HUMAN	H	149;97	ENSP00000246186:R149H	ENSP00000246186:R149H	R	+	2	0	MMP24	33303174	0.998000	0.40836	0.870000	0.34147	0.854000	0.48673	3.501000	0.53325	1.407000	0.46875	0.655000	0.94253	CGT		0.547	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078851.4	NM_006690		4	188	0	0	0	1	0	4	188					A	33839758	G	A	33839758	3	1	234	1	0	0	0	0	1	0	0	0	9661	1145	40	1	206	1	MMP24	20	33839758	Missense_Mutation	SNP	G	TCGA-EL-A3T0-01A-22D-A22D-08		33839758	29185762	28	5021											
ZNF335	63925	broad.mit.edu	37	chr20	44581287	44581287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccatgatgtagtgggtgcCagcttcttttagggtgtcac	13	8	2	1			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr20:44581287C>T	ENST00000322927.2	-	19	2864	c.2764G>A	c.(2764-2766)Ggc>Agc	p.G922S	ZNF335_ENST00000426788.1_Missense_Mutation_p.G767S	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	922					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				TAGTGGGTGCCAGCTTCTTTT	0.587																																						ENST00000322927.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(2764-2766)Ggc>Agc		zinc finger protein 335							169	135	147					20																	44581287		2203	4300	6503	SO:0001583	missense	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44581287C>T	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"Zinc fingers, C2H2-type"	15807	protein-coding gene	gene with protein product	"NRC-interacting factor 1"	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.2764G>A	20.37:g.44581287C>T	ENSP00000325326:p.Gly922Ser					ZNF335_ENST00000426788.1_Missense_Mutation_p.G767S	p.G922S	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN			19	2864	-		Myeloproliferative disorder(115;0.0122)	922					B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	c.2764G>A	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.177569	0.38413	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.07800	3.29;3.16	4.77	2.65	0.31530	.	0.400925	0.26571	N	0.023627	T	0.03651	0.0104	N	0.08118	0	0.28179	N	0.928265	B;B	0.06786	0.001;0.0	B;B	0.12156	0.007;0.001	T	0.32824	-0.9892	10	0.30854	T	0.27	-24.7235	5.0925	0.14715	0.0:0.6878:0.0:0.3122	.	767;922	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	S	922;699;767	ENSP00000325326:G922S;ENSP00000397098:G767S	ENSP00000243961:G699S	G	-	1	0	ZNF335	44014694	0.182000	0.23173	0.990000	0.47175	0.936000	0.57629	0.571000	0.23669	1.198000	0.43158	0.555000	0.69702	GGC		0.587	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		53	166	0	0	0	1	0	53	166					T	44581287	C	T	44581287	3	4	234	1	0	0	0	0	1	0	0	0	17849	594	21	2	1304	2	ZNF335	20	44581287	Missense_Mutation	SNP	C	TCGA-EL-A3T0-01A-22D-A22D-08	10741529	44581287	18444233	29	5022											
COL20A1	57642	broad.mit.edu	37	chr20	61951642	61951642	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggctcccctgcgttgcaGtttcagctccagatgctgca	11	15	1	1			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr20:61951642G>A	ENST00000358894.6	+	25	3175		c.e25-1		COL20A1_ENST00000326996.6_Splice_Site|COL20A1_ENST00000435874.1_Splice_Site|COL20A1_ENST00000422202.1_Splice_Site	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1						extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CTGCGTTGCAGTTTCAGCTCC	0.701																																						ENST00000422202.1																			0				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36						c.e24-1		collagen, type XX, alpha 1							41	45	44					20																	61951642		2058	4204	6262	SO:0001630	splice_region_variant	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61951642G>A	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"Collagens", "Fibronectin type III domain containing"	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.3076-1G>A	20.37:g.61951642G>A						COL20A1_ENST00000435874.1_Splice_Site|COL20A1_ENST00000358894.6_Splice_Site|COL20A1_ENST00000326996.6_Splice_Site				Q9P218	COKA1_HUMAN			24	3164	+	all_cancers(38;1.39e-10)							Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Splice_Site	SNP	ENST00000358894.6	37		CCDS46628.1	.	.	.	.	.	.	.	.	.	.	G	5.729	0.318909	0.10845	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202;ENST00000415763;ENST00000455906	.	.	.	3.46	3.46	0.39613	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1745	0.48590	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL20A1	61422087	1.000000	0.71417	0.911000	0.35937	0.026000	0.11368	4.984000	0.63838	1.889000	0.54706	0.462000	0.41574	.		0.701	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882	Intron	3	98	0	0	0	1	0	3	98					A	61951642	G	A	61951642	5	1	234	1	0	0	0	0	0	0	1	0	3679	1043	36	2	3169	2	COL20A1	20	61951642	Splice_Site	SNP	G	TCGA-EL-A3T0-01A-22D-A22D-08	17370355	61951642	1073878	30	5023											
TTC3	7267	broad.mit.edu	37	chr21	38536445	38536445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctctctatgaccaacacaGtaacgaatatgttgtccgca	7	11	1	1			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr21:38536445G>A	ENST00000399017.2	+	32	6010	c.3263G>A	c.(3262-3264)aGt>aAt	p.S1088N	TTC3_ENST00000354749.2_Missense_Mutation_p.S1088N|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.S1088N	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1088					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GACCAACACAGTAACGAATAT	0.398																																					Ovarian(38;194 1649 35661)	ENST00000399017.2																			0				breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75						c.(3262-3264)aGt>aAt		tetratricopeptide repeat domain 3							101	92	95					21																	38536445		2203	4300	6503	SO:0001583	missense	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38536445G>A	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"RING-type (C3HC4) zinc fingers", "Tetratricopeptide (TTC) repeat domain containing"	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.3263G>A	21.37:g.38536445G>A	ENSP00000381981:p.Ser1088Asn					TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Missense_Mutation_p.S1088N|TTC3_ENST00000355666.1_Missense_Mutation_p.S1088N	p.S1088N	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN			32	6010	+		Myeloproliferative disorder(46;0.0412)	1088					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	c.3263G>A	CCDS13651.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.14|12.14	1.849998|1.849998	0.32699|0.32699	.|.	.|.	ENSG00000182670|ENSG00000182670	ENST00000418766;ENST00000438055;ENST00000355666;ENST00000399017;ENST00000354749|ENST00000411496	T;T;T;T;T|.	0.14893|.	2.47;2.47;2.8;2.8;2.8|.	4.76|4.76	-0.722|-0.722	0.11184|0.11184	.|.	0.376195|.	0.25258|.	N|.	0.031976|.	T|T	0.39118|0.39118	0.1066|0.1066	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	N|N	0.999999|0.999999	P;P|.	0.47910|.	0.902;0.842|.	B;B|.	0.43301|.	0.415;0.236|.	T|T	0.37663|0.37663	-0.9696|-0.9696	10|5	0.22706|.	T|.	0.39|.	-2.1146|-2.1146	2.6162|2.6162	0.04905|0.04905	0.111:0.1392:0.465:0.2848|0.111:0.1392:0.465:0.2848	.|.	146;1088|.	Q5GIT6;P53804|.	.;TTC3_HUMAN|.	N|I	1088;1070;1088;1088;1088|244	ENSP00000403943:S1088N;ENSP00000391891:S1070N;ENSP00000347889:S1088N;ENSP00000381981:S1088N;ENSP00000346791:S1088N|.	ENSP00000346791:S1088N|.	S|V	+|+	2|1	0|0	TTC3|TTC3	37458315|37458315	0.000000|0.000000	0.05858|0.05858	0.019000|0.019000	0.16419|0.16419	0.859000|0.859000	0.49053|0.49053	-0.240000|-0.240000	0.08952|0.08952	0.050000|0.050000	0.15949|0.15949	0.591000|0.591000	0.81541|0.81541	AGT|GTA		0.398	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			3	93	0	0	0	1	0	3	93					A	38536445	G	A	38536445	3	1	234	1	0	0	0	0	1	0	0	0	16694	1029	36	2	3385	2	TTC3	21	38536445	Missense_Mutation	SNP	G	TCGA-EL-A3T0-01A-22D-A22D-08		38536445	9593450	31	5024											
SREBF2	6721	broad.mit.edu	37	chr22	42262982	42262982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcaatggcaggggcaGcagcagcggagctgtggacc	17	11	0	0			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr22:42262982G>A	ENST00000361204.4	+	2	402	c.236G>A	c.(235-237)aGc>aAc	p.S79N		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	79	Gly/Pro/Ser-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ggcaggggcagcagcagcGGA	0.602																																						ENST00000361204.4																			0				NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(235-237)aGc>aAc		sterol regulatory element binding transcription factor 2							83	72	76					22																	42262982		2203	4300	6503	SO:0001583	missense	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42262982G>A	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"Basic helix-loop-helix proteins"	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.236G>A	22.37:g.42262982G>A	ENSP00000354476:p.Ser79Asn						p.S79N	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN			2	402	+			79			Gly/Pro/Ser-rich.		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	ENST00000361204.4	37	c.236G>A	CCDS14023.1	.	.	.	.	.	.	.	.	.	.	G	7.763	0.705838	0.15172	.	.	ENSG00000198911	ENST00000361204;ENST00000444813;ENST00000457567	T	0.55052	0.54	4.02	-2.35	0.06684	.	0.324019	0.30455	N	0.009597	T	0.24160	0.0585	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09862	-1.0655	10	0.36615	T	0.2	-0.0544	6.3177	0.21200	0.2149:0.3894:0.3957:0.0	.	79	Q12772	SRBP2_HUMAN	N	79	ENSP00000354476:S79N	ENSP00000354476:S79N	S	+	2	0	SREBF2	40592928	0.216000	0.23585	0.001000	0.08648	0.451000	0.32288	0.551000	0.23361	-0.159000	0.11021	0.561000	0.74099	AGC		0.602	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		3	88	0	0	0	1	0	3	88					A	42262982	G	A	42262982	3	1	234	1	0	0	0	0	1	0	0	0	15141	971	34	2	242	2	SREBF2	22	42262982	Missense_Mutation	SNP	G	TCGA-EL-A3T0-01A-22D-A22D-08		42262982	9041584	32	5025											
MAPK8IP2	23542	broad.mit.edu	37	chr22	51044095	51044095	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggcttcaacatgcgcacGggggagcgcggtgtgtttcc	16	11	1	0			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr22:51044095G>A	ENST00000399908.2	+	5	1865	c.1149G>A	c.(1147-1149)acG>acA	p.T383T	MAPK8IP2_ENST00000399912.1_Silent_p.T383T|MAPK8IP2_ENST00000341339.4_Silent_p.T269T|MAPK8IP2_ENST00000442429.2_Silent_p.T371T|MAPK8IP2_ENST00000329492.3_Silent_p.T648T|MAPK8IP2_ENST00000008876.5_Silent_p.T354T	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	649	Necessary for interaction with FGF13.				behavioral fear response (GO:0001662)|dendrite morphogenesis (GO:0048813)|MAPK cascade (GO:0000165)|nonassociative learning (GO:0046958)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of signal transduction (GO:0009967)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of JNK cascade (GO:0046328)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of receptor activity (GO:0010469)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal complex assembly (GO:0007172)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|neuronal postsynaptic density (GO:0097481)	beta-amyloid binding (GO:0001540)|kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		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)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACATGCGCACGGGGGAGCGCG	0.652																																						ENST00000399908.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(1147-1149)acG>acA		mitogen-activated protein kinase 8 interacting protein 2							37	46	43					22																	51044095		2132	4242	6374	SO:0001819	synonymous_variant	23542				behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding	g.chr22:51044095G>A	AL021708	CCDS74886.1	22q13.33	2010-04-06			ENSG00000008735	ENSG00000008735			6883	protein-coding gene	gene with protein product	"islet-brain 2", "JNK-interacting protein 2"	607755	"PRKM8 interacting protein-like"	PRKM8IPL		10490659	Standard	NM_012324		Approved	IB2, JIP2	uc003bmy.3	Q13387	OTTHUMG00000150181	ENST00000399908.2:c.1149G>A	22.37:g.51044095G>A						MAPK8IP2_ENST00000329492.3_Silent_p.T648T|MAPK8IP2_ENST00000008876.5_Silent_p.T354T|MAPK8IP2_ENST00000341339.4_Silent_p.T269T|MAPK8IP2_ENST00000399912.1_Silent_p.T383T|MAPK8IP2_ENST00000442429.2_Silent_p.T371T	p.T383T	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	5	1865	+		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)	649					Q96G62|Q99771|Q9NZ59|Q9UKQ4	Silent	SNP	ENST00000399908.2	37	c.1149G>A																																																																																					0.652	MAPK8IP2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000316731.2	NM_012324		3	58	0	0	0	1	0	3	58					A	51044095	G	A	51044095	2	1	234	1	0	0	0	0	0	0	0	1	9285	1103	39	1		1	MAPK8IP2	22	51044095	Silent	SNP	G	TCGA-EL-A3T0-01A-22D-A22D-08	8781113	51044095	260471	33	5026											
MAP7D2	256714	broad.mit.edu	37	chrX	20044031	20044031	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaccctgggtagggaggtttCgttgtctttggagactgtgg	17	6	1	1			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chrX:20044031C>T	ENST00000379651.3	-	8	942	c.924G>A	c.(922-924)acG>acA	p.T308T	MAP7D2_ENST00000466145.1_5'UTR|MAP7D2_ENST00000379643.5_Silent_p.T349T|MAP7D2_ENST00000543767.1_Silent_p.T193T|MAP7D2_ENST00000443379.3_Silent_p.T263T|MAP7D2_ENST00000452324.3_Silent_p.T256T	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	308					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						AGGGAGGTTTCGTTGTCTTTG	0.493																																						ENST00000379651.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(922-924)acG>acA		MAP7 domain containing 2							187	174	178					X																	20044031		2203	4300	6503	SO:0001819	synonymous_variant	256714							g.chrX:20044031C>T	BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.924G>A	X.37:g.20044031C>T						MAP7D2_ENST00000466145.1_5'UTR|MAP7D2_ENST00000452324.3_Silent_p.T256T|MAP7D2_ENST00000443379.3_Silent_p.T263T|MAP7D2_ENST00000379643.5_Silent_p.T349T|MAP7D2_ENST00000543767.1_Silent_p.T193T	p.T308T	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN			8	942	-			308					B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Silent	SNP	ENST00000379651.3	37	c.924G>A	CCDS14195.1																																																																																				0.493	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780		37	252	0	0	0	1	0	37	252					T	20044031	C	T	20044031	2	4	234	1	0	0	0	0	0	0	0	1	9268	871	31	1		1	MAP7D2	23	20044031	Silent	SNP	C	TCGA-EL-A3T0-01A-22D-A22D-08		20044031	135226529	34	5027											
AMOT	154796	broad.mit.edu	37	chrX	112058796	112058796	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgtggctgctgctgctgCtgttgttggtggtgatggtg	18	6	0	1			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chrX:112058796C>T	ENST00000524145.1	-	3	1256	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	AMOT_ENST00000371959.3_Silent_p.Q394Q|AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371958.1_Silent_p.Q162Q			Q4VCS5	AMOT_HUMAN	angiomotin	394					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)	p.Q394Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						gctgctgctgctgttgttggt	0.582																																						ENST00000371959.3																			1	Substitution - coding silent(1)	p.Q394Q(1)	lung(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1180-1182)caG>caA		angiomotin							38	34	36					X																	112058796		2203	4300	6503	SO:0001819	synonymous_variant	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112058796C>T	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1182G>A	X.37:g.112058796C>T						AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000524145.1_Silent_p.Q394Q	p.Q394Q	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			2	1181	-			394					Q504X5|Q9HD27|Q9UPT1	Silent	SNP	ENST00000524145.1	37	c.1182G>A	CCDS48154.1																																																																																				0.582	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		3	36	0	0	0	1	0	3	36					T	112058796	C	T	112058796	2	4	234	1	0	0	0	0	0	0	0	1	582	796	28	2		2	AMOT	23	112058796	Silent	SNP	C	TCGA-EL-A3T0-01A-22D-A22D-08	92014765	112058796	43211764	35	5028											
FH	2271	broad.mit.edu	37	chr1	241665851	241665851	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accatggtcattgcttcacaCtgagtagggttcaccttgcc	9	12	3	1			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr1:241665851C>A	ENST00000366560.3	-	8	1166	c.1128G>T	c.(1126-1128)caG>caT	p.Q376H		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	376					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		TTGCTTCACACTGAGTAGGGT	0.408			"Mis, N, F"			"lieomyomatosis, renal"			Hereditary Leiomyomatosis and Renal Cell Cancer																												Melanoma(148;1573 2486 7381 46575)	ENST00000366560.3			yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	"Mis, N, F"	fumarate hydratase			"E, M"		"lieomyomatosis, renal"			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26						c.(1126-1128)caG>caT		fumarate hydratase							104	86	92					1																	241665851		2203	4300	6503	SO:0001583	missense	2271	Hereditary Leiomyomatosis and Renal Cell Cancer	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity	g.chr1:241665851C>A	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.1128G>T	1.37:g.241665851C>A	ENSP00000355518:p.Gln376His						p.Q376H	NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)	8	1166	-	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	376					B1ANK7	Missense_Mutation	SNP	ENST00000366560.3	37	c.1128G>T	CCDS1617.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846651	0.71603	.	.	ENSG00000091483	ENST00000366560	D	0.99429	-5.89	5.96	4.12	0.48240	Lyase 1, N-terminal (1);L-Aspartase-like (1);	0.124352	0.64402	D	0.000009	D	0.99539	0.9835	M	0.91406	3.205	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98674	1.0689	10	0.87932	D	0	-17.4801	11.1733	0.48584	0.0:0.8506:0.0:0.1494	.	376	P07954	FUMH_HUMAN	H	376	ENSP00000355518:Q376H	ENSP00000355518:Q376H	Q	-	3	2	FH	239732474	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.963000	0.49184	0.873000	0.35799	-0.133000	0.14855	CAG		0.408	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1	NM_000143		31	57	1	0	1.42033e-22	1	1.61852e-22	31	57					A	241665851	C	A	241665851	3	1	235	1	0	0	0	0	1	0	0	0	5875	564	20	4	416	4	FH	1	241665851	Missense_Mutation	SNP	C	TCGA-EL-A3T1-01A-11D-A22D-08		241665851	7584770	1	5029											
WDR52	55779	broad.mit.edu	37	chr3	113098181	113098181	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccagaacttccctggctctGagtaaaatccacagaggatg	9	12	1	3			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr3:113098181G>A	ENST00000295868.2	-	17	2432	c.2270C>T	c.(2269-2271)tCa>tTa	p.S757L	WDR52_ENST00000393845.2_Missense_Mutation_p.S757L|WDR52_ENST00000475568.1_5'Flank	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CCCTGGCTCTGAGTAAAATCC	0.388																																						ENST00000393845.2																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						c.(2269-2271)tCa>tTa		WD repeat domain 52							56	58	57					3																	113098181		2203	4300	6503	SO:0001583	missense	55779							g.chr3:113098181G>A																												ENST00000295868.2:c.2270C>T	3.37:g.113098181G>A	ENSP00000295868:p.Ser757Leu					WDR52_ENST00000295868.2_Missense_Mutation_p.S757L	p.S757L	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN			17	2336	-			757						Missense_Mutation	SNP	ENST00000295868.2	37	c.2270C>T	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.333707	0.60853	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.24350	1.86;1.86	5.42	5.42	0.78866	WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.44726	0.1307	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.66084	0.941	T	0.09335	-1.0679	9	0.44086	T	0.13	.	19.0063	0.92852	0.0:0.0:1.0:0.0	.	757	Q96MT7	WDR52_HUMAN	L	757	ENSP00000377428:S757L;ENSP00000295868:S757L	ENSP00000295868:S757L	S	-	2	0	WDR52	114580871	1.000000	0.71417	0.968000	0.41197	0.279000	0.26890	5.130000	0.64745	2.826000	0.97356	0.563000	0.77884	TCA		0.388	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			14	41	0	0	0	1	0	14	41					A	113098181	G	A	113098181	3	1	235	1	0	0	0	0	1	0	0	0	17301	1294	45	2	3385	2	WDR52	3	113098181	Missense_Mutation	SNP	G	TCGA-EL-A3T1-01A-11D-A22D-08		113098181	84924249	2	5030											
PARP9	83666	broad.mit.edu	37	chr3	122259432	122259432	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagcccgggctccttcaAtctctaactctgtccttcct	7	16	4	0	rs143155766	byFrequency	TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr3:122259432A>G	ENST00000360356.2	-	8	1984	c.1757T>C	c.(1756-1758)aTt>aCt	p.I586T	PARP9_ENST00000462315.1_Missense_Mutation_p.I551T|PARP9_ENST00000471785.1_Missense_Mutation_p.I551T|PARP9_ENST00000492382.1_Missense_Mutation_p.I131T|PARP9_ENST00000477522.2_Missense_Mutation_p.I551T	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	586					cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		GGCTCCTTCAATCTCTAACTC	0.443													A|||	4	0.000798722	8e-04	0.0043	5008	,	,		19686	0		0	False		,,,				2504	0					ENST00000462315.1																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34						c.(1651-1653)aTt>aCt		poly (ADP-ribose) polymerase family, member 9		A	THR/ILE,THR/ILE,THR/ILE,THR/ILE,THR/ILE,THR/ILE	11,4395	19.1+/-41.9	0,11,2192	108	104	105		1757,1652,1652,1652,1652,1757	5.0	1.0	3	dbSNP_134	105	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense,missense,missense	PARP9	NM_001146102.1,NM_001146103.1,NM_001146104.1,NM_001146105.1,NM_001146106.1,NM_031458.2	89,89,89,89,89,89	0,12,6491	GG,GA,AA		0.0116,0.2497,0.0923	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	586/855,551/820,551/820,551/820,551/711,586/855	122259432	12,12994	2203	4300	6503	SO:0001583	missense	83666				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:122259432A>G	AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"Poly (ADP-ribose) polymerases"	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.1757T>C	3.37:g.122259432A>G	ENSP00000353512:p.Ile586Thr					PARP9_ENST00000492382.1_Missense_Mutation_p.I131T|PARP9_ENST00000471785.1_Missense_Mutation_p.I551T|PARP9_ENST00000360356.2_Missense_Mutation_p.I586T|PARP9_ENST00000477522.2_Missense_Mutation_p.I551T	p.I551T	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN		GBM - Glioblastoma multiforme(114;0.0519)	8	1945	-			586					A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	ENST00000360356.2	37	c.1652T>C	CCDS3014.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	A	14.82	2.649964	0.47362	0.002497	1.16E-4	ENSG00000138496	ENST00000360356;ENST00000492382;ENST00000477522;ENST00000471785;ENST00000452457;ENST00000462315	T;T;T;T;T	0.22743	2.92;2.45;2.8;2.8;1.94	4.98	4.98	0.66077	.	0.123300	0.36972	N	0.002316	T	0.32615	0.0835	M	0.66939	2.045	0.46437	D	0.99904	D;D;D;D	0.71674	0.995;0.995;0.998;0.994	P;P;D;P	0.65573	0.859;0.82;0.936;0.908	T	0.19712	-1.0297	10	0.87932	D	0	.	11.0072	0.47641	1.0:0.0:0.0:0.0	.	551;586;131;551	E9PFM7;Q8IXQ6;G5E9U8;Q8IXQ6-2	.;PARP9_HUMAN;.;.	T	586;131;551;551;509;551	ENSP00000353512:I586T;ENSP00000417664:I131T;ENSP00000419506:I551T;ENSP00000419001:I551T;ENSP00000418894:I551T	ENSP00000353512:I586T	I	-	2	0	PARP9	123742122	1.000000	0.71417	0.999000	0.59377	0.287000	0.27160	5.165000	0.64959	2.097000	0.63578	0.528000	0.53228	ATT		0.443	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458		12	23	0	0	0	1	0	12	23					G	122259432	A	G	122259432	3	3	235	1	0	0	0	0	1	0	0	0	11466	101	4	3	876	3	PARP9	3	122259432	Missense_Mutation	SNP	A	TCGA-EL-A3T1-01A-11D-A22D-08	9161251	122259432	75762998	3	5031											
CORIN	10699	broad.mit.edu	37	chr4	47839953	47839953	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctcttccggagcgagggcaGgagactgtttcatggataaa	14	8	2	1			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr4:47839953G>C	ENST00000273857.4	-	1	13	c.14C>G	c.(13-15)cCt>cGt	p.P5R	RP11-121C2.2_ENST00000563286.1_lincRNA|CORIN_ENST00000502252.1_Missense_Mutation_p.P5R|CORIN_ENST00000504584.1_Missense_Mutation_p.P5R|CORIN_ENST00000505909.1_Missense_Mutation_p.P5R	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	5					female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AGCGAGGGCAGGAGACTGTTT	0.557																																						ENST00000273857.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						c.(13-15)cCt>cGt		corin, serine peptidase							109	111	111					4																	47839953		2203	4300	6503	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47839953G>C	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"Serine peptidases / Transmembrane"	19012	protein-coding gene	gene with protein product		605236	"corin, serine protease"			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.14C>G	4.37:g.47839953G>C	ENSP00000273857:p.Pro5Arg					CORIN_ENST00000505909.1_Missense_Mutation_p.P5R|CORIN_ENST00000502252.1_Missense_Mutation_p.P5R|CORIN_ENST00000504584.1_Missense_Mutation_p.P5R	p.P5R	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN			1	13	-			5					B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.14C>G	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	G	8.235	0.805560	0.16467	.	.	ENSG00000145244	ENST00000273857;ENST00000502252;ENST00000505909;ENST00000504584	D;D;D;D	0.92495	-2.53;-2.58;-2.42;-3.05	4.71	0.903	0.19296	.	0.612042	0.14744	N	0.301027	D	0.82453	0.5040	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.12013	0.005;0.003;0.0;0.001	B;B;B;B	0.10450	0.004;0.005;0.001;0.002	T	0.70400	-0.4882	10	0.49607	T	0.09	.	4.3502	0.11151	0.2838:0.1664:0.5498:0.0	.	5;5;5;5	B7Z4R1;B4E2W9;B4E1Y7;Q9Y5Q5	.;.;.;CORIN_HUMAN	R	5	ENSP00000273857:P5R;ENSP00000424212:P5R;ENSP00000425401:P5R;ENSP00000423216:P5R	ENSP00000273857:P5R	P	-	2	0	CORIN	47534710	0.861000	0.29849	0.000000	0.03702	0.000000	0.00434	2.344000	0.44010	0.020000	0.15106	-0.258000	0.10820	CCT		0.557	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			13	161	0	0	0	1	0	13	161					C	47839953	G	C	47839953	3	2	235	1	0	0	0	0	1	0	0	0	3752	1000	35	4	3202	4	CORIN	4	47839953	Missense_Mutation	SNP	G	TCGA-EL-A3T1-01A-11D-A22D-08		47839953	143314323	4	5032											
DCUN1D4	23142	broad.mit.edu	37	chr4	52777312	52777312	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attaggaaaaatctggccccTttttccagtttttcaccaat	5	10	2	0			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr4:52777312T>C	ENST00000334635.5	+	9	872	c.692T>C	c.(691-693)cTt>cCt	p.L231P	DCUN1D4_ENST00000381441.3_Intron|DCUN1D4_ENST00000381437.4_Missense_Mutation_p.L171P|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.L275P	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	231	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.					nucleus (GO:0005634)				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			ATCTGGCCCCTTTTTCCAGTT	0.383																																						ENST00000334635.5																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9						c.(691-693)cTt>cCt		DCN1, defective in cullin neddylation 1, domain containing 4							121	119	119					4																	52777312		2203	4300	6503	SO:0001583	missense	23142							g.chr4:52777312T>C	D87466	CCDS3487.2, CCDS33982.1, CCDS75123.1	4q11	2013-06-10	2013-06-10		ENSG00000109184	ENSG00000109184			28998	protein-coding gene	gene with protein product		612977	"DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae)"			15988528	Standard	XM_005265731		Approved	KIAA0276	uc003gze.3	Q92564	OTTHUMG00000128700	ENST00000334635.5:c.692T>C	4.37:g.52777312T>C	ENSP00000334625:p.Leu231Pro					DCUN1D4_ENST00000381441.3_Intron|DCUN1D4_ENST00000381437.4_Missense_Mutation_p.L171P|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.L275P	p.L231P	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)		9	872	+			231			DCUN1.		B4DH25|Q7Z3F3|Q7Z6B8	Missense_Mutation	SNP	ENST00000334635.5	37	c.692T>C	CCDS33982.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.683870	0.88639	.	.	ENSG00000109184	ENST00000334635;ENST00000381437;ENST00000451288;ENST00000510808	T;T;T	0.69306	-0.39;-0.39;-0.39	5.97	5.97	0.96955	Domain of unknown function DUF298 (2);	0.000000	0.85682	D	0.000000	D	0.86339	0.5909	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.89414	0.3705	10	0.62326	D	0.03	-14.1468	15.642	0.77012	0.0:0.0:0.0:1.0	.	275;231	B4DH25;Q92564	.;DCNL4_HUMAN	P	231;171;275;41	ENSP00000334625:L231P;ENSP00000370846:L171P;ENSP00000389900:L275P	ENSP00000334625:L231P	L	+	2	0	DCUN1D4	52472069	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.288000	0.76882	0.533000	0.62120	CTT		0.383	DCUN1D4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250599.2	NM_015115		3	94	0	0	0	1	0	3	94					C	52777312	T	C	52777312	3	2	235	1	0	0	0	0	1	0	0	0	4316	1609	56	3	726	3	DCUN1D4	4	52777312	Missense_Mutation	SNP	T	TCGA-EL-A3T1-01A-11D-A22D-08	4937359	52777312	138376964	5	5033											
MAML3	55534	broad.mit.edu	37	chr4	140811117	140811117	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgttgctgttgctgttt	13	10	0	0	rs62344938		TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr4:140811117C>T	ENST00000509479.2	-	2	2329	c.1473G>A	c.(1471-1473)caG>caA	p.Q491Q	MAML3_ENST00000398940.1_Silent_p.Q30Q|MAML3_ENST00000327122.5_Silent_p.Q335Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgttgct	0.547																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1471-1473)caG>caA		mastermind-like 3 (Drosophila)							16	20	18					4																	140811117		2191	4287	6478	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811117C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1473G>A	4.37:g.140811117C>T						MAML3_ENST00000327122.5_Silent_p.Q335Q|MAML3_ENST00000398940.1_Silent_p.Q30Q	p.Q491Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2329	-	all_hematologic(180;0.162)		491			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1473G>A	CCDS54805.1																																																																																				0.547	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			5	22	0	0	0	1	0	5	22					T	140811117	C	T	140811117	2	4	235	1	0	0	0	0	0	0	0	1	9207	796	28	2		2	MAML3	4	140811117	Silent	SNP	C	TCGA-EL-A3T1-01A-11D-A22D-08	88033805	140811117	50343159	6	5034											
GPR98	84059	broad.mit.edu	37	chr5	90001231	90001231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttaggagttccaccagccGgaatcgccctgcttgatgct	10	12	0	1			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr5:90001231G>A	ENST00000405460.2	+	37	8497	c.8401G>A	c.(8401-8403)Gga>Aga	p.G2801R		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2801					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCCACCAGCCGGAATCGCCCT	0.428																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(8401-8403)Gga>Aga		G protein-coupled receptor 98							163	157	159					5																	90001231		1956	4153	6109	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90001231G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.8401G>A	5.37:g.90001231G>A	ENSP00000384582:p.Gly2801Arg						p.G2801R	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	37	8497	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2801					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.8401G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	35	5.457918	0.96240	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.34667	1.35	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.62853	0.2462	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.63611	-0.6598	10	0.72032	D	0.01	.	20.0204	0.97499	0.0:0.0:1.0:0.0	.	2801;2801	E7ETI5;Q8WXG9	.;GPR98_HUMAN	R	2801	ENSP00000384582:G2801R	ENSP00000296619:G2801R	G	+	1	0	GPR98	90036987	1.000000	0.71417	0.810000	0.32431	0.300000	0.27592	9.043000	0.93799	2.729000	0.93468	0.650000	0.86243	GGA		0.428	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		7	197	0	0	0	1	0	7	197					A	90001231	G	A	90001231	3	1	235	1	0	0	0	0	1	0	0	0	6721	1117	39	1	8547	1	GPR98	5	90001231	Missense_Mutation	SNP	G	TCGA-EL-A3T1-01A-11D-A22D-08		90001231	90914029	7	5035											
ZNF292	23036	broad.mit.edu	37	chr6	87964746	87964746	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggagaagaagcatccattGtgtcttcaatagatgaacta	10	6	2	4			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr6:87964746G>T	ENST00000369577.3	+	8	1442	c.1399G>T	c.(1399-1401)Gtg>Ttg	p.V467L	ZNF292_ENST00000339907.4_Missense_Mutation_p.V462L	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	467						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)		AGCATCCATTGTGTCTTCAAT	0.378																																						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.(1399-1401)Gtg>Ttg		zinc finger protein 292							107	99	102					6																	87964746		1859	4089	5948	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87964746G>T	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.1399G>T	6.37:g.87964746G>T	ENSP00000358590:p.Val467Leu					ZNF292_ENST00000339907.4_Missense_Mutation_p.V462L	p.V467L	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	1442	+		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)	467					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.1399G>T	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.914379	0.72983	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.35789	1.29;1.29	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.51041	0.1651	L	0.54323	1.7	0.58432	D	0.999996	D	0.67145	0.996	D	0.68039	0.955	T	0.47355	-0.9124	10	0.72032	D	0.01	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	467	O60281	ZN292_HUMAN	L	467;462	ENSP00000358590:V467L;ENSP00000342847:V462L	ENSP00000342847:V462L	V	+	1	0	ZNF292	88021465	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	8.062000	0.89475	2.880000	0.98712	0.650000	0.86243	GTG		0.378	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		20	42	1	0	2.79863e-10	1	3.11666e-10	20	42					T	87964746	G	T	87964746	3	4	235	1	0	0	0	0	1	0	0	0	17823	1377	48	4	1429	4	ZNF292	6	87964746	Missense_Mutation	SNP	G	TCGA-EL-A3T1-01A-11D-A22D-08		87964746	83150321	8	5036											
ARMC2	84071	broad.mit.edu	37	chr6	109249435	109249435	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaatattgccagaatattcAggtaggtagactaagacgtg	10	7	1	3			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr6:109249435A>G	ENST00000392644.4	+	11	1663	c.1495A>G	c.(1495-1497)Agc>Ggc	p.S499G	ARMC2_ENST00000368972.3_Splice_Site_p.S334G	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	499										endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		CAGAATATTCAGGTAGGTAGA	0.423																																						ENST00000392644.4																			0				endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24						c.e11+1		armadillo repeat containing 2							143	133	136					6																	109249435		2203	4300	6503	SO:0001630	splice_region_variant	84071						binding	g.chr6:109249435A>G	BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"Armadillo repeat containing"	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.1496+1A>G	6.37:g.109249435A>G						ARMC2_ENST00000368972.3_Splice_Site_p.S334_splice	p.S499_splice	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)	11	1663	+		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)	499					A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Splice_Site	SNP	ENST00000392644.4	37	c.1496_splice	CCDS5069.2	.	.	.	.	.	.	.	.	.	.	A	20.9	4.064320	0.76187	.	.	ENSG00000118690	ENST00000368972;ENST00000392644	T;T	0.47177	0.85;0.85	5.39	5.39	0.77823	Armadillo-like helical (1);Armadillo-type fold (1);	0.038043	0.85682	D	0.000000	T	0.60945	0.2308	M	0.76574	2.34	0.51767	D	0.999932	D	0.89917	1.0	D	0.87578	0.998	T	0.66779	-0.5837	10	0.72032	D	0.01	-5.399	13.2323	0.59951	1.0:0.0:0.0:0.0	.	499	Q8NEN0	ARMC2_HUMAN	G	334;499	ENSP00000357968:S334G;ENSP00000376417:S499G	ENSP00000357968:S334G	S	+	1	0	ARMC2	109356128	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	5.895000	0.69814	2.165000	0.68154	0.528000	0.53228	AGC		0.423	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	NM_032131	Missense_Mutation	3	116	0	0	0	1	0	3	116					G	109249435	A	G	109249435	5	3	235	1	0	0	0	0	0	0	1	0	951	202	7	3	1533	3	ARMC2	6	109249435	Splice_Site	SNP	A	TCGA-EL-A3T1-01A-11D-A22D-08	21284689	109249435	61865632	9	5037											
ROS1	6098	broad.mit.edu	37	chr6	117686282	117686282	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctttccccagtaggtataaGgagtgacagaaagattaaat	9	7	0	3			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr6:117686282G>T	ENST00000368508.3	-	20	3257	c.3059C>A	c.(3058-3060)cCt>cAt	p.P1020H	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.P1015H	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1020	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		GTAGGTATAAGGAGTGACAGA	0.393			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.(3058-3060)cCt>cAt		c-ros oncogene 1 , receptor tyrosine kinase							91	91	91					6																	117686282		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117686282G>T	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.3059C>A	6.37:g.117686282G>T	ENSP00000357494:p.Pro1020His					ROS1_ENST00000368507.3_Missense_Mutation_p.P1015H|GOPC_ENST00000467125.1_Intron	p.P1020H	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)	20	3257	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1020			Fibronectin type-III 4.		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.3059C>A	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125482	0.77436	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.53857	0.6;0.6	4.91	4.91	0.64330	.	0.000000	0.64402	D	0.000006	T	0.53981	0.1830	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.61417	-0.7067	10	0.87932	D	0	.	17.9707	0.89112	0.0:0.0:1.0:0.0	.	1020	P08922	ROS1_HUMAN	H	1020;1015	ENSP00000357494:P1020H;ENSP00000357493:P1015H	ENSP00000357493:P1015H	P	-	2	0	ROS1	117792975	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.131000	0.71670	2.644000	0.89710	0.655000	0.94253	CCT		0.393	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			21	41	1	0	3.01185e-09	1	3.27957e-09	21	41					T	117686282	G	T	117686282	3	4	235	1	0	0	0	0	1	0	0	0	13531	1000	35	4	4080	4	ROS1	6	117686282	Missense_Mutation	SNP	G	TCGA-EL-A3T1-01A-11D-A22D-08	8436847	117686282	53428785	10	5038											
CUX1	1523	broad.mit.edu	37	chr7	101870709	101870709	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agtccccgatgagttccagtGagtcggtgaagagcctgacc	13	11	0	5			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr7:101870709G>T	ENST00000292535.7	+	21	3231	c.3193G>T	c.(3193-3195)Gag>Tag	p.E1065*	CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Nonsense_Mutation_p.E907*|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Nonsense_Mutation_p.E1076*|CUX1_ENST00000549414.2_Nonsense_Mutation_p.E1043*|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Nonsense_Mutation_p.E963*|CUX1_ENST00000550008.2_Nonsense_Mutation_p.E1009*	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	1065					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GAGTTCCAGTGAGTCGGTGAA	0.597																																						ENST00000360264.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(3226-3228)Gag>Tag		cut-like homeobox 1							83	91	88					7																	101870709		2203	4300	6503	SO:0001587	stop_gained	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101870709G>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.3193G>T	7.37:g.101870709G>T	ENSP00000292535:p.Glu1065*					CUX1_ENST00000550008.2_Nonsense_Mutation_p.E1009*|CUX1_ENST00000292535.7_Nonsense_Mutation_p.E1065*|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Nonsense_Mutation_p.E963*|CUX1_ENST00000549414.2_Nonsense_Mutation_p.E1043*|CUX1_ENST00000556210.1_Nonsense_Mutation_p.E907*|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron	p.E1076*	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			21	3246	+			1065					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Nonsense_Mutation	SNP	ENST00000292535.7	37	c.3226G>T	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	39	7.747788	0.98468	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-14.7319	19.7848	0.96432	0.0:0.0:1.0:0.0	.	.	.	.	X	1076;1065;1043;1009;963;907	.	ENSP00000292535:E1065X	E	+	1	0	CUX1	101657429	1.000000	0.71417	0.863000	0.33907	0.557000	0.35523	8.004000	0.88535	2.673000	0.90976	0.655000	0.94253	GAG		0.597	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		33	205	1	0	4.46736e-08	1	4.65746e-08	33	205					T	101870709	G	T	101870709	4	4	235	1	0	0	0	0	0	1	0	0	4064	1291	45	4	3342	4	CUX1	7	101870709	Nonsense_Mutation	SNP	G	TCGA-EL-A3T1-01A-11D-A22D-08		101870709	57267954	11	5039											
CTTNBP2	83992	broad.mit.edu	37	chr7	117386124	117386124	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaagcttccttctgggccGtggaaaatgacattatgata	10	8	1	2	rs574986416		TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr7:117386124G>A	ENST00000160373.3	-	13	3469	c.3378C>T	c.(3376-3378)caC>caT	p.H1126H		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1126					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CTTCTGGGCCGTGGAAAATGA	0.393											OREG0003442	type=REGULATORY REGION|Gene=CTTNBP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	G|||	1	0.000199681	0	0.0014	5008	,	,		19780	0		0	False		,,,				2504	0					ENST00000160373.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(3376-3378)caC>caT		cortactin binding protein 2							143	130	135					7																	117386124		2203	4300	6503	SO:0001819	synonymous_variant	83992							g.chr7:117386124G>A		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.3378C>T	7.37:g.117386124G>A			OREG0003442	type=REGULATORY REGION|Gene=CTTNBP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1480		p.H1126H	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	13	3469	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		1126					O43389|Q7LG11|Q9C0A5	Silent	SNP	ENST00000160373.3	37	c.3378C>T	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	G	8.720	0.914136	0.17907	.	.	ENSG00000077063	ENST00000446636	.	.	.	5.87	-2.06	0.07298	.	.	.	.	.	T	0.54854	0.1884	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50285	-0.8846	4	.	.	.	-0.2504	9.8545	0.41077	0.8027:0.0:0.1029:0.0944	.	.	.	.	W	614	.	.	R	-	1	2	CTTNBP2	117173360	0.974000	0.33945	0.982000	0.44146	0.996000	0.88848	0.078000	0.14761	-0.496000	0.06650	-0.150000	0.13652	CGG		0.393	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		4	132	0	0	0	1	0	4	132					A	117386124	G	A	117386124	2	1	235	1	0	0	0	0	0	0	0	1	4045	1136	40	1		1	CTTNBP2	7	117386124	Silent	SNP	G	TCGA-EL-A3T1-01A-11D-A22D-08	15515415	117386124	41752539	12	5040											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		40	63	0	0	0	1	0	40	63					T	140453136	A	T	140453136	3	4	235	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3T1-01A-11D-A22D-08	23067012	140453136	18685527	13	5041											
PRSS55	203074	broad.mit.edu	37	chr8	10387179	10387179	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caagtggtggattctcactgCggctcactgcttatattccg	10	11	2	0			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr8:10387179C>A	ENST00000328655.3	+	2	357	c.317C>A	c.(316-318)gCg>gAg	p.A106E	PRSS55_ENST00000522210.1_Missense_Mutation_p.A106E|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	106	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						ATTCTCACTGCGGCTCACTGC	0.597																																						ENST00000328655.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						c.(316-318)gCg>gAg		protease, serine, 55							204	205	205					8																	10387179		2203	4300	6503	SO:0001583	missense	203074				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr8:10387179C>A	AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"Serine peptidases / Serine peptidases"	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.317C>A	8.37:g.10387179C>A	ENSP00000333003:p.Ala106Glu					PRSS55_ENST00000522210.1_Missense_Mutation_p.A106E|PRSS51_ENST00000523024.1_RNA	p.A106E	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN			2	357	+			106			Peptidase S1.		E5RJX5	Missense_Mutation	SNP	ENST00000328655.3	37	c.317C>A	CCDS5976.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.891206	0.33442	.	.	ENSG00000184647	ENST00000328655;ENST00000522210	D;D	0.95377	-3.69;-3.69	4.19	3.31	0.37934	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.263995	0.20034	N	0.100642	D	0.97892	0.9307	H	0.94734	3.575	0.19575	N	0.999966	D	0.89917	1.0	D	0.83275	0.996	D	0.92509	0.6015	10	0.87932	D	0	.	7.763	0.28963	0.0:0.8883:0.0:0.1117	.	106	Q6UWB4	PRS55_HUMAN	E	106	ENSP00000333003:A106E;ENSP00000430459:A106E	ENSP00000333003:A106E	A	+	2	0	PRSS55	10424589	0.995000	0.38212	0.045000	0.18777	0.072000	0.16883	3.702000	0.54800	1.346000	0.45694	0.561000	0.74099	GCG		0.597	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464		4	349	1	0	0.00909568	1	0.00909568	4	349					A	10387179	C	A	10387179	3	1	235	1	0	0	0	0	1	0	0	0	12634	768	27	4	323	4	PRSS55	8	10387179	Missense_Mutation	SNP	C	TCGA-EL-A3T1-01A-11D-A22D-08		10387179	135976843	14	5042											
DPYS	1807	broad.mit.edu	37	chr8	105440214	105440214	+	Frame_Shift_Del	DEL	T	T	-													cctgtgaaacccaccacgccTttttcccatattacggacat							TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr8:105440214delT	ENST00000351513.2	-	6	1218	c.1086delA	c.(1084-1086)aaafs	p.K362fs	AP003471.2_ENST00000410226.1_RNA	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	362					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCACCACGCCTTTTTCCCATA	0.478																																						ENST00000351513.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1084-1086)aafs		dihydropyrimidinase							179	176	177					8																	105440214		2203	4300	6503	SO:0001589	frameshift_variant	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105440214delT	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1086delA	8.37:g.105440214delT	ENSP00000276651:p.Lys362fs						p.K362fs	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		6	1218	-			362						Frame_Shift_Del	DEL	ENST00000351513.2	37	c.1086delA	CCDS6302.1																																																																																				0.478	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		7	415						7	415	---	---	---	---	-	105440214	T	-	105440214	7	5	235	1	0	1	0	1	0	0	0	0	4746	1606	56	0	489	0	DPYS	8	105440214	Frame_Shift_Del	DEL	T	TCGA-EL-A3T1-01A-11D-A22D-08	95053035	105440214	40923808	15	5043											
ZNF510	22869	broad.mit.edu	37	chr9	99537117	99537117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaaagagtgtggagaaccGtaaaggataacctgggggtg	16	5	0	3	rs148190358	byFrequency	TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr9:99537117G>A	ENST00000375231.1	-	3	732	c.82C>T	c.(82-84)Cgg>Tgg	p.R28W	ZNF510_ENST00000223428.4_Missense_Mutation_p.R28W			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	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)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GTGGAGAACCGTAAAGGATAA	0.458													G|||	2	0.000399361	0	0	5008	,	,		18483	0		0.002	False		,,,				2504	0					ENST00000375231.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21						c.(82-84)Cgg>Tgg		zinc finger protein 510		G	TRP/ARG	0,4406		0,0,2203	85	85	85		82	2.7	0.0	9	dbSNP_134	85	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ZNF510	NM_014930.1	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	28/684	99537117	2,13004	2203	4300	6503	SO:0001583	missense	22869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99537117G>A	AB023189	CCDS35074.1	9q22.33	2013-01-08			ENSG00000081386	ENSG00000081386		"Zinc fingers, C2H2-type", "-"	29161	protein-coding gene	gene with protein product						10231032	Standard	XM_005251807		Approved	KIAA0972	uc004awn.1	Q9Y2H8	OTTHUMG00000020303	ENST00000375231.1:c.82C>T	9.37:g.99537117G>A	ENSP00000364379:p.Arg28Trp					ZNF510_ENST00000223428.4_Missense_Mutation_p.R28W	p.R28W			Q9Y2H8	ZN510_HUMAN			3	732	-		Acute lymphoblastic leukemia(62;0.0527)	28					Q5SZP5	Missense_Mutation	SNP	ENST00000375231.1	37	c.82C>T	CCDS35074.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	13.82	2.349947	0.41599	0.0	2.33E-4	ENSG00000081386	ENST00000375231;ENST00000223428;ENST00000374641	T;T;T	0.06449	3.3;3.3;5.7	2.7	2.7	0.31948	.	.	.	.	.	T	0.02848	0.0085	N	0.08118	0	0.09310	N	1	D	0.60575	0.988	B	0.34452	0.183	T	0.42599	-0.9442	9	0.66056	D	0.02	.	9.0762	0.36522	0.0:0.0:1.0:0.0	.	28	Q9Y2H8	ZN510_HUMAN	W	28	ENSP00000364379:R28W;ENSP00000223428:R28W;ENSP00000363772:R28W	ENSP00000223428:R28W	R	-	1	2	ZNF510	98576938	0.112000	0.22096	0.020000	0.16555	0.616000	0.37450	2.367000	0.44213	1.831000	0.53308	0.561000	0.74099	CGG		0.458	ZNF510-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053287.1	NM_014930		3	70	0	0	0	1	0	3	70					A	99537117	G	A	99537117	3	1	235	1	0	0	0	0	1	0	0	0	17951	1144	40	1	1985	1	ZNF510	9	99537117	Missense_Mutation	SNP	G	TCGA-EL-A3T1-01A-11D-A22D-08		99537117	41676314	16	5044											
DNM1	1759	broad.mit.edu	37	chr9	130984562	130984562	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccattgagaaggaggtggaGgaatacaagaacttccgccc	12	9	0	2			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr9:130984562G>A	ENST00000372923.3	+	7	1028	c.936G>A	c.(934-936)gaG>gaA	p.E312E	DNM1_ENST00000393594.3_Silent_p.E312E|DNM1_ENST00000341179.7_Silent_p.E312E|DNM1_ENST00000475805.1_Silent_p.E312E|DNM1_ENST00000486160.1_Silent_p.E312E	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	312					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						AGGAGGTGGAGGAATACAAGA	0.612																																					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.(934-936)gaG>gaA		dynamin 1							86	80	82					9																	130984562		2203	4300	6503	SO:0001819	synonymous_variant	1759				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	g.chr9:130984562G>A	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.936G>A	9.37:g.130984562G>A						DNM1_ENST00000486160.1_Silent_p.E312E|DNM1_ENST00000393594.3_Silent_p.E312E|DNM1_ENST00000372923.3_Silent_p.E312E|DNM1_ENST00000475805.1_Silent_p.E312E	p.E312E	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN			7	1028	+			312					A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Silent	SNP	ENST00000372923.3	37	c.936G>A	CCDS6895.1																																																																																				0.612	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	NM_004408		3	80	0	0	0	1	0	3	80					A	130984562	G	A	130984562	2	1	235	1	0	0	0	0	0	0	0	1	4670	991	35	2		2	DNM1	9	130984562	Silent	SNP	G	TCGA-EL-A3T1-01A-11D-A22D-08	31447445	130984562	10228869	17	5045											
GPRIN2	9721	broad.mit.edu	37	chr10	46999778	46999778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcccacctttggggtcccGctgggttagtcccagagcct	13	14	0	1	rs147795605	byFrequency	TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr10:46999778G>A	ENST00000374317.1	+	3	1171	c.898G>A	c.(898-900)Gct>Act	p.A300T	GPRIN2_ENST00000374314.4_Missense_Mutation_p.A300T	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	300										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TTGGGGTCCCGCTGGGTTAGT	0.617													G|||	2	0.000399361	8e-04	0.0014	5008	,	,		39545	0		0	False		,,,				2504	0					ENST00000374314.4																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						c.(898-900)Gct>Act		G protein regulated inducer of neurite outgrowth 2		G	THR/ALA	2,4404	2.1+/-5.4	0,2,2201	70	75	73		898	-3.8	0.0	10	dbSNP_134	73	0,8600		0,0,4300	yes	missense	GPRIN2	NM_014696.3	58	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	300/459	46999778	2,13004	2203	4300	6503	SO:0001583	missense	9721							g.chr10:46999778G>A	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"KIAA0514"	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.898G>A	10.37:g.46999778G>A	ENSP00000363436:p.Ala300Thr					GPRIN2_ENST00000374317.1_Missense_Mutation_p.A300T	p.A300T			O60269	GRIN2_HUMAN			1	1853	+			300					Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	c.898G>A	CCDS31192.1	3	0.0013736263736263737	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	0	0.0	G	0.005	-2.153263	0.00325	4.54E-4	0.0	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.03330	3.97;3.97	4.55	-3.81	0.04294	.	1.047480	0.07555	N	0.916074	T	0.01061	0.0035	N	0.01109	-1.01	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.47275	-0.9130	10	0.02654	T	1	-1.2323	6.8408	0.23961	0.3242:0.1802:0.4956:0.0	.	300	O60269	GRIN2_HUMAN	T	300	ENSP00000363436:A300T;ENSP00000363433:A300T	ENSP00000363433:A300T	A	+	1	0	GPRIN2	46419784	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	0.269000	0.18589	-0.527000	0.06374	-1.401000	0.01141	GCT		0.617	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		22	76	0	0	0	1	0	22	76					A	46999778	G	A	46999778	3	1	235	1	0	0	0	0	1	0	0	0	6730	1087	38	1	900	1	GPRIN2	10	46999778	Missense_Mutation	SNP	G	TCGA-EL-A3T1-01A-11D-A22D-08		46999778	88534969	18	5046											
PYGM	5837	broad.mit.edu	37	chr11	64520608	64520608	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgccgaggggtgatgccGttggtcttattctggaactt	14	9	2	1	rs149123972	byFrequency	TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr11:64520608G>A	ENST00000164139.3	-	12	1853	c.1455C>T	c.(1453-1455)aaC>aaT	p.N485N	PYGM_ENST00000462303.1_5'Flank|PYGM_ENST00000377432.3_Silent_p.N397N	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	485					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						GGGTGATGCCGTTGGTCTTAT	0.557																																						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.(1453-1455)aaC>aaT		phosphorylase, glycogen, muscle	Pyridoxal Phosphate(DB00114)	G	,	2,4400	4.2+/-10.8	0,2,2199	193	216	208		1191,1455	-9.4	0.7	11	dbSNP_134	208	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous	PYGM	NM_001164716.1,NM_005609.2	,	0,2,6496	AA,AG,GG		0.0,0.0454,0.0154	,	397/755,485/843	64520608	2,12994	2201	4297	6498	SO:0001819	synonymous_variant	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64520608G>A		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.1455C>T	11.37:g.64520608G>A						PYGM_ENST00000377432.3_Silent_p.N397N	p.N485N	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN			12	1853	-			485					A0AVK1|A6NDY6	Silent	SNP	ENST00000164139.3	37	c.1455C>T	CCDS8079.1																																																																																				0.557	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		6	374	0	0	0	1	0	6	374					A	64520608	G	A	64520608	2	1	235	1	0	0	0	0	0	0	0	1	12862	1136	40	1		1	PYGM	11	64520608	Silent	SNP	G	TCGA-EL-A3T1-01A-11D-A22D-08		64520608	70485908	19	5047											
LAG3	3902	broad.mit.edu	37	chr12	6884566	6884566	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtggactcctcctgggggAggccctgacctcctggtgac	14	13	0	2			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr12:6884566A>G	ENST00000203629.2	+	5	1242	c.909A>G	c.(907-909)ggA>ggG	p.G303G	LAG3_ENST00000441671.2_Silent_p.G303G	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	303	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell activation (GO:0050868)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|MHC class II protein binding (GO:0042289)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CTCCTGGGGGAGGCCCTGACC	0.632																																						ENST00000203629.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(907-909)ggA>ggG		lymphocyte-activation gene 3							92	87	89					12																	6884566		2203	4300	6503	SO:0001819	synonymous_variant	3902					integral to membrane	antigen binding|MHC class II protein binding	g.chr12:6884566A>G		CCDS8561.1	12p13.3	2013-01-11			ENSG00000089692	ENSG00000089692		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6476	protein-coding gene	gene with protein product		153337					Standard	NM_002286		Approved	CD223	uc001qqt.4	P18627	OTTHUMG00000169197	ENST00000203629.2:c.909A>G	12.37:g.6884566A>G						LAG3_ENST00000441671.2_Silent_p.G303G	p.G303G	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN			5	1242	+			303			Ig-like C2-type 2.		A8K7T9|Q7Z643	Silent	SNP	ENST00000203629.2	37	c.909A>G	CCDS8561.1																																																																																				0.632	LAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402846.1			3	112	0	0	0	1	0	3	112					G	6884566	A	G	6884566	2	3	235	1	0	0	0	0	0	0	0	1	8600	291	11	3		3	LAG3	12	6884566	Silent	SNP	A	TCGA-EL-A3T1-01A-11D-A22D-08		6884566	126967329	20	5048											
PRKCB	5579	broad.mit.edu	37	chr16	24202517	24202517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgattgggagaaacttgaacGcaaagagatccagccccctt	10	10	0	4	rs563116744		TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr16:24202517G>A	ENST00000321728.7	+	16	2004	c.1829G>A	c.(1828-1830)cGc>cAc	p.R610H	PRKCB_ENST00000303531.7_Missense_Mutation_p.R610H	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	610	AGC-kinase C-terminal.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.R610H(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	AAACTTGAACGCAAAGAGATC	0.478													G|||	1	0.000199681	0	0	5008	,	,		18802	0		0	False		,,,				2504	0.001					ENST00000303531.7																			2	Substitution - Missense(2)	p.R610H(2)	large_intestine(2)	central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.(1828-1830)cGc>cAc		protein kinase C, beta	Vitamin E(DB00163)						120	122	122					16																	24202517		2197	4300	6497	SO:0001583	missense	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24202517G>A	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"protein kinase C, beta 1"	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1829G>A	16.37:g.24202517G>A	ENSP00000318315:p.Arg610His					PRKCB_ENST00000321728.7_Missense_Mutation_p.R610H	p.R610H	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN			16	1981	+			610			AGC-kinase C-terminal.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.1829G>A	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.536078	0.64972	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.54071	0.59;0.59	5.79	5.79	0.91817	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.124523	0.56097	D	0.000028	T	0.42787	0.1218	L	0.31207	0.915	0.42943	D	0.994353	B;B	0.21225	0.053;0.031	B;B	0.14578	0.011;0.005	T	0.24154	-1.0168	10	0.18710	T	0.47	.	18.5987	0.91239	0.0:0.0:1.0:0.0	.	610;610	P05771-2;P05771	.;KPCB_HUMAN	H	610	ENSP00000318315:R610H;ENSP00000305355:R610H	ENSP00000305355:R610H	R	+	2	0	PRKCB	24110018	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.857000	0.48349	2.744000	0.94065	0.650000	0.86243	CGC		0.478	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		3	119	0	0	0	1	0	3	119					A	24202517	G	A	24202517	3	1	235	1	0	0	0	0	1	0	0	0	12508	1087	38	1	1891	1	PRKCB	16	24202517	Missense_Mutation	SNP	G	TCGA-EL-A3T1-01A-11D-A22D-08		24202517	66152236	21	5049											
RSPRY1	89970	broad.mit.edu	37	chr16	57238772	57238772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaggccgagaacagtgcaGtacccactgctgacacaagg	11	12	0	2			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr16:57238772G>A	ENST00000537866.1	+	2	1075	c.202G>A	c.(202-204)Gta>Ata	p.V68I	RSPRY1_ENST00000394420.4_Missense_Mutation_p.V68I			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	68						extracellular region (GO:0005576)	zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						GAACAGTGCAGTACCCACTGC	0.547																																						ENST00000537866.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						c.(202-204)Gta>Ata		ring finger and SPRY domain containing 1							103	99	100					16																	57238772		2198	4300	6498	SO:0001583	missense	89970					extracellular region	zinc ion binding	g.chr16:57238772G>A	AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"RING-type (C3HC4) zinc fingers"	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.202G>A	16.37:g.57238772G>A	ENSP00000443176:p.Val68Ile					RSPRY1_ENST00000394420.4_Missense_Mutation_p.V68I	p.V68I			Q96DX4	RSPRY_HUMAN			2	1075	+			68					Q6UX21|Q8ND53	Missense_Mutation	SNP	ENST00000537866.1	37	c.202G>A	CCDS10775.1	.	.	.	.	.	.	.	.	.	.	G	5.141	0.211640	0.09757	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	D;D	0.85411	-1.98;-1.98	5.27	-0.639	0.11497	.	0.645131	0.16087	N	0.230228	T	0.68860	0.3047	L	0.36672	1.1	0.09310	N	1	B;B	0.15473	0.013;0.008	B;B	0.16289	0.015;0.004	T	0.49254	-0.8959	10	0.07325	T	0.83	.	2.5649	0.04781	0.1207:0.2067:0.3568:0.3158	.	68;68	Q96DX4-2;Q96DX4	.;RSPRY_HUMAN	I	68	ENSP00000377942:V68I;ENSP00000443176:V68I	ENSP00000377942:V68I	V	+	1	0	RSPRY1	55796273	0.245000	0.23899	0.990000	0.47175	0.980000	0.70556	0.795000	0.26972	0.277000	0.22141	-0.176000	0.13171	GTA		0.547	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	NM_133368		5	112	0	0	0	1	0	5	112					A	57238772	G	A	57238772	3	1	235	1	0	0	0	0	1	0	0	0	13713	1029	36	2	204	2	RSPRY1	16	57238772	Missense_Mutation	SNP	G	TCGA-EL-A3T1-01A-11D-A22D-08	33036255	57238772	33115981	22	5050											
PLEKHG4	25894	broad.mit.edu	37	chr16	67316145	67316145	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacagaggtcctgatgcaGcaggtgctagactcgccatg	13	11	0	4			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr16:67316145G>A	ENST00000360461.5	+	8	3681	c.1146G>A	c.(1144-1146)caG>caA	p.Q382Q	PLEKHG4_ENST00000427155.2_Silent_p.Q382Q|PLEKHG4_ENST00000450733.1_Silent_p.Q301Q|PLEKHG4_ENST00000379344.3_Silent_p.Q382Q	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	382							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TCCTGATGCAGCAGGTGCTAG	0.612																																						ENST00000360461.5																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1144-1146)caG>caA		pleckstrin homology domain containing, family G (with RhoGef domain) member 4							46	49	48					16																	67316145		2198	4300	6498	SO:0001819	synonymous_variant	25894				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr16:67316145G>A	AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	24501	protein-coding gene	gene with protein product	"puratrophin-1"	609526	"spinocerebellar ataxia 4"	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.1146G>A	16.37:g.67316145G>A						PLEKHG4_ENST00000427155.2_Silent_p.Q382Q|PLEKHG4_ENST00000450733.1_Silent_p.Q301Q|PLEKHG4_ENST00000379344.3_Silent_p.Q382Q	p.Q382Q	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)	8	3681	+			382					Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Silent	SNP	ENST00000360461.5	37	c.1146G>A	CCDS32466.1																																																																																				0.612	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432		3	90	0	0	0	1	0	3	90					A	67316145	G	A	67316145	2	1	235	1	0	0	0	0	0	0	0	1	12071	962	34	2		2	PLEKHG4	16	67316145	Silent	SNP	G	TCGA-EL-A3T1-01A-11D-A22D-08	10077373	67316145	23038608	23	5051											
ALOX12	239	broad.mit.edu	37	chr17	6902319	6902319	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacaccctcctgagctcctGgaactgcctagaagactttg	8	13	0	3			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr17:6902319G>A	ENST00000251535.6	+	5	643	c.590G>A	c.(589-591)tGg>tAg	p.W197*	RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399541.2_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	197	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						CTGAGCTCCTGGAACTGCCTA	0.552																																						ENST00000251535.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						c.(589-591)tGg>tAg		arachidonate 12-lipoxygenase							134	121	125					17																	6902319		2203	4300	6503	SO:0001587	stop_gained	239				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr17:6902319G>A	M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"Arachidonate lipoxygenases"	429	protein-coding gene	gene with protein product	"platelet 12-LOX"	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.590G>A	17.37:g.6902319G>A	ENSP00000251535:p.Trp197*					RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399541.2_Intron	p.W197*	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN			5	643	+			197			Lipoxygenase.		O95569|Q6ISF8|Q9UQM4	Nonsense_Mutation	SNP	ENST00000251535.6	37	c.590G>A	CCDS11084.1	.	.	.	.	.	.	.	.	.	.	G	35	5.432818	0.96150	.	.	ENSG00000108839	ENST00000251535	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.1348	13.8709	0.63617	0.0:0.0:1.0:0.0	.	.	.	.	X	197	.	ENSP00000251535:W197X	W	+	2	0	ALOX12	6843043	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	6.722000	0.74735	2.741000	0.93983	0.551000	0.68910	TGG		0.552	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219922.2			4	152	0	0	0	1	0	4	152					A	6902319	G	A	6902319	4	1	235	1	0	0	0	0	0	1	0	0	536	1357	47	2	608	2	ALOX12	17	6902319	Nonsense_Mutation	SNP	G	TCGA-EL-A3T1-01A-11D-A22D-08		6902319	74292891	24	5052											
PER1	5187	broad.mit.edu	37	chr17	8053317	8053317	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttgacacaggccagtgcGtactgcagcgtggccagggt	15	11	0	1	rs369395487		TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr17:8053317G>A	ENST00000317276.4	-	4	738	c.501C>T	c.(499-501)taC>taT	p.Y167Y	PER1_ENST00000581082.1_Silent_p.Y167Y|PER1_ENST00000354903.5_Silent_p.Y151Y	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	167					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|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)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AGGCCAGTGCGTACTGCAGCG	0.627			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes					G|||	1	0.000199681	0	0	5008	,	,		19599	0		0	False		,,,				2504	0.001					ENST00000317276.4				Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		"AML, CMML"		0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(499-501)taC>taT	Other conserved DNA damage response genes	period circadian clock 1		G		0,4406		0,0,2203	116	124	121		501	-9.5	0.1	17		121	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PER1	NM_002616.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		167/1291	8053317	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8053317G>A	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.501C>T	17.37:g.8053317G>A						PER1_ENST00000581082.1_Silent_p.Y167Y|PER1_ENST00000354903.5_Silent_p.Y151Y	p.Y167Y	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN			4	738	-			167					B2RPA8|B4DI49|D3DTR3	Silent	SNP	ENST00000317276.4	37	c.501C>T	CCDS11131.1																																																																																				0.627	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			5	298	0	0	0	1	0	5	298					A	8053317	G	A	8053317	2	1	235	1	0	0	0	0	0	0	0	1	11729	1140	40	1		1	PER1	17	8053317	Silent	SNP	G	TCGA-EL-A3T1-01A-11D-A22D-08	1150998	8053317	73141893	25	5053											
RPL23	9349	broad.mit.edu	37	chr17	37009327	37009327	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	accggaagacccaaggaaatCcggaatttcgcaccagagga	11	11	0	2			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr17:37009327C>G	ENST00000479035.2	-	2	177	c.45G>C	c.(43-45)cgG>cgC	p.R15R	SNORA21_ENST00000516890.1_RNA|RPL23_ENST00000577407.1_Silent_p.R15R|RPL23_ENST00000394332.1_Silent_p.R15R|RPL23_ENST00000245857.5_5'UTR|RPL23_ENST00000394333.1_Silent_p.R15R|SNORA21_ENST00000362423.1_RNA	NM_000978.3	NP_000969.1	P62829	RL23_HUMAN	ribosomal protein L23	15					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal protein import into nucleus (GO:0006610)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|large_intestine(1)	3						CCAAGGAAATCCGGAATTTCG	0.478																																						ENST00000479035.2																			0				endometrium(2)|large_intestine(1)	3						c.(43-45)cgG>cgC		ribosomal protein L23							74	65	68					17																	37009327		2203	4300	6503	SO:0001819	synonymous_variant	9349				endocrine pancreas development|ribosomal protein import into nucleus|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome	g.chr17:37009327C>G	X52839	CCDS11330.1	17q12	2011-04-06			ENSG00000125691	ENSG00000125691		"L ribosomal proteins"	10316	protein-coding gene	gene with protein product		603662				1861993	Standard	NM_000978		Approved	rpL17, L23	uc002hqx.1	P62829	OTTHUMG00000133118	ENST00000479035.2:c.45G>C	17.37:g.37009327C>G						RPL23_ENST00000245857.5_5'UTR|RPL23_ENST00000394333.1_Silent_p.R15R|RPL23_ENST00000577407.1_Silent_p.R15R|RPL23_ENST00000394332.1_Silent_p.R15R	p.R15R	NM_000978.3	NP_000969.1	P62829	RL23_HUMAN			2	177	-			15					P23131|P24048|Q29246|Q3SWV7|Q6P5S1	Silent	SNP	ENST00000479035.2	37	c.45G>C	CCDS11330.1																																																																																				0.478	RPL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256785.3	NM_000978		9	38	0	0	0	1	0	9	38					G	37009327	C	G	37009327	2	3	235	1	0	0	0	0	0	0	0	1	13570	842	30	4		4	RPL23	17	37009327	Silent	SNP	C	TCGA-EL-A3T1-01A-11D-A22D-08	28956010	37009327	44185883	26	5054											
MUC16	94025	broad.mit.edu	37	chr19	9057556	9057556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtactctgtgctgtagcccCaggagaacttttttgggtgg	13	8	1	1			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr19:9057556C>T	ENST00000397910.4	-	3	30093	c.29890G>A	c.(29890-29892)Ggg>Agg	p.G9964R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9966	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTGTAGCCCCAGGAGAACTT	0.483																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(29890-29892)Ggg>Agg		mucin 16, cell surface associated							257	249	252					19																	9057556		1960	4162	6122	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9057556C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.29890G>A	19.37:g.9057556C>T	ENSP00000381008:p.Gly9964Arg						p.G9964R	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	30093	-			9966			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.29890G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	6.047	0.377084	0.11466	.	.	ENSG00000181143	ENST00000397910	T	0.03607	3.87	2.22	-1.53	0.08611	.	.	.	.	.	T	0.03348	0.0097	N	0.19112	0.55	.	.	.	P	0.35821	0.523	B	0.42163	0.378	T	0.41378	-0.9512	8	0.87932	D	0	.	5.2816	0.15678	0.0:0.5136:0.0:0.4864	.	9964	B5ME49	.	R	9964	ENSP00000381008:G9964R	ENSP00000381008:G9964R	G	-	1	0	MUC16	8918556	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.458000	0.06737	-0.252000	0.09528	0.460000	0.39030	GGG		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		15	305	0	0	0	1	0	15	305					T	9057556	C	T	9057556	3	4	235	1	0	0	0	0	1	0	0	0	9973	594	21	2	13961	2	MUC16	19	9057556	Missense_Mutation	SNP	C	TCGA-EL-A3T1-01A-11D-A22D-08		9057556	50071427	27	5055											
CPAMD8	27151	broad.mit.edu	37	chr19	17088247	17088247	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttctccattctccctgacGtagaagaccagcaggcgacc	8	16	2	3	rs368338696		TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr19:17088247G>A	ENST00000443236.1	-	15	1861	c.1830C>T	c.(1828-1830)taC>taT	p.Y610Y	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	563						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TCTCCCTGACGTAGAAGACCA	0.592																																						ENST00000443236.1																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(1828-1830)taC>taT		C3 and PZP-like, alpha-2-macroglobulin domain containing 8							61	64	63					19																	17088247		1973	4152	6125	SO:0001819	synonymous_variant	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17088247G>A	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1830C>T	19.37:g.17088247G>A						CPAMD8_ENST00000388925.4_Intron	p.Y610Y	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			15	1861	-			563					Q8NC09|Q9ULD7	Silent	SNP	ENST00000443236.1	37	c.1830C>T	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	g	7.685	0.689758	0.14973	.	.	ENSG00000160111	ENST00000443236	.	.	.	2.78	-5.57	0.02521	.	.	.	.	.	T	0.52933	0.1765	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53920	-0.8370	4	.	.	.	.	10.3712	0.44055	0.6364:0.0:0.3636:0.0	.	.	.	.	M	621	.	.	T	-	2	0	CPAMD8	16949247	0.016000	0.18221	0.313000	0.25210	0.939000	0.58152	-1.226000	0.02953	-1.523000	0.01767	-0.944000	0.02675	ACG		0.592	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		3	65	0	0	0	1	0	3	65					A	17088247	G	A	17088247	2	1	235	1	0	0	0	0	0	0	0	1	3795	1140	40	1		1	CPAMD8	19	17088247	Silent	SNP	G	TCGA-EL-A3T1-01A-11D-A22D-08	8030691	17088247	42040736	28	5056											
DYRK1B	9149	broad.mit.edu	37	chr19	40319135	40319135	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagacgccgcggaagtgggtGttgcgcaggaggtcgtacag	19	8	0	1			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr19:40319135G>A	ENST00000593685.1	-	6	1077	c.609C>T	c.(607-609)aaC>aaT	p.N203N	DYRK1B_ENST00000348817.3_Silent_p.N203N|DYRK1B_ENST00000430012.2_Silent_p.N203N|DYRK1B_ENST00000597639.1_Silent_p.N203N|DYRK1B_ENST00000323039.5_Silent_p.N203N			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	203	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GGAAGTGGGTGTTGCGCAGGA	0.612																																						ENST00000593685.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(607-609)aaC>aaT		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B							74	70	71					19																	40319135		2203	4300	6503	SO:0001819	synonymous_variant	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40319135G>A	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"minibrain-related kinase"	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.609C>T	19.37:g.40319135G>A						DYRK1B_ENST00000323039.5_Silent_p.N203N|DYRK1B_ENST00000597639.1_Silent_p.N203N|DYRK1B_ENST00000430012.2_Silent_p.N203N|DYRK1B_ENST00000348817.3_Silent_p.N203N	p.N203N			Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		6	1077	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		203			Protein kinase.		O75258|O75788|O75789	Silent	SNP	ENST00000593685.1	37	c.609C>T	CCDS12543.1																																																																																				0.612	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		3	30	0	0	0	1	0	3	30					A	40319135	G	A	40319135	2	1	235	1	0	0	0	0	0	0	0	1	4855	1368	48	2		2	DYRK1B	19	40319135	Silent	SNP	G	TCGA-EL-A3T1-01A-11D-A22D-08	23230888	40319135	18809848	29	5057											
IDH3B	3420	broad.mit.edu	37	chr20	2641562	2641562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaccacctacctcagccGcatatcataggaggctagct	8	15	2	1			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr20:2641562G>A	ENST00000380843.4	-	5	421	c.391C>T	c.(391-393)Cgg>Tgg	p.R131W	IDH3B_ENST00000380851.5_Missense_Mutation_p.R131W|IDH3B_ENST00000488299.1_5'UTR	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	131					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|NADH metabolic process (GO:0006734)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R131W(1)		breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14						TACCTCAGCCGCATATCATAG	0.567																																						ENST00000380843.4																			1	Substitution - Missense(1)	p.R131W(1)	lung(1)	breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14						c.(391-393)Cgg>Tgg		isocitrate dehydrogenase 3 (NAD+) beta	NADH(DB00157)						125	122	123					20																	2641562		2203	4300	6503	SO:0001583	missense	3420				isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	g.chr20:2641562G>A		CCDS13031.1, CCDS13032.1, CCDS74696.1	20p13	2013-02-14			ENSG00000101365	ENSG00000101365	1.1.1.41		5385	protein-coding gene	gene with protein product		604526				10575215	Standard	NM_006899		Approved	RP46	uc002wgp.4	O43837	OTTHUMG00000031699	ENST00000380843.4:c.391C>T	20.37:g.2641562G>A	ENSP00000370223:p.Arg131Trp					IDH3B_ENST00000380851.5_Missense_Mutation_p.R131W|IDH3B_ENST00000488299.1_5'UTR	p.R131W	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN			5	421	-			131					B2RDR1|D3DVX2|D3DVX3|O95106|Q5JXS8|Q9NQ06|Q9NQ07|Q9NUZ0|Q9UEX0|Q9UG99	Missense_Mutation	SNP	ENST00000380843.4	37	c.391C>T	CCDS13032.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.496745	0.64186	.	.	ENSG00000101365	ENST00000380851;ENST00000380843;ENST00000341825	T;T	0.69561	-0.41;-0.41	5.91	2.82	0.32997	Isopropylmalate dehydrogenase-like domain (2);	0.155759	0.56097	D	0.000031	T	0.79446	0.4447	M	0.83774	2.66	0.80722	D	1	P;D	0.69078	0.949;0.997	P;P	0.60345	0.655;0.873	T	0.81178	-0.1051	10	0.66056	D	0.02	-11.614	13.3641	0.60674	0.0:0.0:0.5468:0.4532	.	131;131	O43837-2;O43837	.;IDH3B_HUMAN	W	131	ENSP00000370232:R131W;ENSP00000370223:R131W	ENSP00000343215:R131W	R	-	1	2	IDH3B	2589562	1.000000	0.71417	0.922000	0.36590	0.966000	0.64601	0.806000	0.27126	0.343000	0.23821	-0.169000	0.13324	CGG		0.567	IDH3B-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077613.1			3	107	0	0	0	1	0	3	107					A	2641562	G	A	2641562	3	1	235	1	0	0	0	0	1	0	0	0	7497	1086	38	1	958	1	IDH3B	20	2641562	Missense_Mutation	SNP	G	TCGA-EL-A3T1-01A-11D-A22D-08		2641562	60383958	30	5058											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290	byFrequency	TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		neuroblastoma RAS viral (v-ras) oncogene homolog							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		69	90	0	0	0	1	0	69	90					C	115256529	T	C	115256529	3	2	236	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-EL-A3T2-01A-11D-A22D-08		115256529	133994092	1	5059											
DENND4B	9909	broad.mit.edu	37	chr1	153907309	153907309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgttgCtgctgctgctgctgttgccg	14	12	0	0			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.				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)	p.Q788Q(1)|p.Q900Q(1)		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)			gctgctgttgctgctgctgct	0.642																																						ENST00000361217.4																			2	Substitution - coding silent(2)	p.Q788Q(1)|p.Q900Q(1)	lung(2)	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.(2698-2700)caG>caA		DENN/MADD domain containing 4B							33	42	39					1																	153907309		2187	4283	6470	SO:0001819	synonymous_variant	9909							g.chr1:153907309C>T	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.2700G>A	1.37:g.153907309C>T							p.Q900Q	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3118	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		900			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2700G>A	CCDS44228.1																																																																																				0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		4	77	0	0	0	1	0	4	77					T	153907309	C	T	153907309	2	4	236	1	0	0	0	0	0	0	0	1	4434	796	28	2		2	DENND4B	1	153907309	Silent	SNP	C	TCGA-EL-A3T2-01A-11D-A22D-08	38650780	153907309	95343312	2	5060											
THBS3	7059	broad.mit.edu	37	chr1	155168008	155168008	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacacacatcaccaacgccaTtgcctgggcagagtgaggct	10	14	1	2			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr1:155168008T>C	ENST00000368378.3	-	18	2098	c.2078A>G	c.(2077-2079)aAt>aGt	p.N693S	THBS3_ENST00000541576.1_Missense_Mutation_p.N90S|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000447623.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.N573S|THBS3_ENST00000486260.1_5'Flank|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA|THBS3_ENST00000541990.1_Missense_Mutation_p.N222S|MIR92B_ENST00000607575.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	693					bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACCAACGCCATTGCCTGGGCA	0.537																																						ENST00000368378.3																			0				breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(2077-2079)aAt>aGt		thrombospondin 3							123	106	112					1																	155168008		2203	4300	6503	SO:0001583	missense	7059				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	g.chr1:155168008T>C	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.2078A>G	1.37:g.155168008T>C	ENSP00000357362:p.Asn693Ser					THBS3_ENST00000487250.1_5'UTR|RP11-263K19.4_ENST00000454348.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.N573S|THBS3_ENST00000428962.2_3'UTR|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000541576.1_Missense_Mutation_p.N90S|THBS3_ENST00000541990.1_Missense_Mutation_p.N222S	p.N693S	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		18	2098	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		693					B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	ENST00000368378.3	37	c.2078A>G	CCDS1099.1	.	.	.	.	.	.	.	.	.	.	T	15.82	2.945586	0.53079	.	.	ENSG00000169231	ENST00000368378;ENST00000541576;ENST00000457183;ENST00000541990	D;D;D;D	0.98666	-5.06;-5.06;-5.06;-5.06	4.66	4.66	0.58398	.	0.057330	0.64402	D	0.000003	D	0.97195	0.9083	M	0.72353	2.195	0.80722	D	1	B;P;P;P	0.40681	0.361;0.727;0.727;0.727	B;B;B;B	0.42959	0.403;0.314;0.314;0.314	D	0.98190	1.0462	10	0.87932	D	0	-12.9723	12.0999	0.53776	0.0:0.0:0.0:1.0	.	573;693;693;693	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	S	693;90;573;222	ENSP00000357362:N693S;ENSP00000444792:N90S;ENSP00000392207:N573S;ENSP00000437353:N222S	ENSP00000357362:N693S	N	-	2	0	THBS3	153434632	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	7.868000	0.87116	1.952000	0.56665	0.460000	0.39030	AAT		0.537	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112		37	72	0	0	0	1	0	37	72					C	155168008	T	C	155168008	3	2	236	1	0	0	0	0	1	0	0	0	15852	1493	52	3	816	3	THBS3	1	155168008	Missense_Mutation	SNP	T	TCGA-EL-A3T2-01A-11D-A22D-08	1260699	155168008	94082613	3	5061											
UBR3	130507	broad.mit.edu	37	chr2	170843170	170843170	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctcagattctcctgagaatgAtattcctatggagatcacca	7	10	3	4			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr2:170843170A>T	ENST00000272793.5	+	25	3700	c.3650A>T	c.(3649-3651)gAt>gTt	p.D1217V	UBR3_ENST00000418381.1_Missense_Mutation_p.D1217V|UBR3_ENST00000392631.1_Missense_Mutation_p.D38V			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1217					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						CCTGAGAATGATATTCCTATG	0.418																																						ENST00000272793.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						c.(3649-3651)gAt>gTt		ubiquitin protein ligase E3 component n-recognin 3 (putative)							82	77	79					2																	170843170		2203	4300	6503	SO:0001583	missense	130507				sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:170843170A>T	AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"Ubiquitin protein ligase E3 component n-recognins"	30467	protein-coding gene	gene with protein product		613831	"zinc finger protein 650"	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.3650A>T	2.37:g.170843170A>T	ENSP00000272793:p.Asp1217Val					UBR3_ENST00000418381.1_Missense_Mutation_p.D1217V|UBR3_ENST00000392631.1_Missense_Mutation_p.D38V	p.D1217V			Q6ZT12	UBR3_HUMAN			25	3700	+			1217					B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	37	c.3650A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.0|22.0	4.230640|4.230640	0.79688|0.79688	.|.	.|.	ENSG00000144357|ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381;ENST00000392631|ENST00000392632	T;T;T|.	0.50001|.	0.85;0.85;0.76|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.100939|.	0.64402|.	D|.	0.000002|.	T|T	0.72598|0.72598	0.3480|0.3480	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	B;P;P|.	0.51791|.	0.392;0.948;0.745|.	B;P;B|.	0.49999|.	0.193;0.628;0.31|.	T|T	0.72316|0.72316	-0.4330|-0.4330	10|5	0.72032|.	D|.	0.01|.	.|.	15.5259|15.5259	0.75905|0.75905	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1217;38;1217|.	Q6ZT12;Q6ZT12-2;E7EVK3|.	UBR3_HUMAN;.;.|.	V|L	1217;1217;1217;38|275	ENSP00000272793:D1217V;ENSP00000396068:D1217V;ENSP00000376408:D38V|.	ENSP00000272793:D1217V|.	D|I	+|+	2|1	0|0	UBR3|UBR3	170551416|170551416	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.917000|0.917000	0.54804|0.54804	8.939000|8.939000	0.92951|0.92951	2.073000|2.073000	0.62155|0.62155	0.477000|0.477000	0.44152|0.44152	GAT|ATA		0.418	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		5	54	0	0	0	1	0	5	54					T	170843170	A	T	170843170	3	4	236	1	0	0	0	0	1	0	0	0	16900	333	12	5	3748	5	UBR3	2	170843170	Missense_Mutation	SNP	A	TCGA-EL-A3T2-01A-11D-A22D-08		170843170	72356203	4	5062											
CACNA1D	776	broad.mit.edu	37	chr3	53529193	53529195	+	Start_Codon_Del	DEL	GAT	GAT	-													tcgctcaataaatgttcgtgGatgatgatgatgatgatgat							TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr3:53529193_53529195delGAT	ENST00000350061.5	+	0	511_513				CACNA1D_ENST00000288139.4_Start_Codon_Del|CACNA1D_ENST00000422281.2_Start_Codon_Del	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|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 potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	aatgttcgtGgatgatgatgatg	0.581																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90								calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)																																			SO:0001582	initiator_codon_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53529193_53529195delGAT	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278		3.37:g.53529202_53529204delGAT						CACNA1D_ENST00000350061.5_Start_Codon_Del|CACNA1D_ENST00000422281.2_Start_Codon_Del		NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	0	118_120	+								B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Translation_Start_Site	DEL	ENST00000350061.5	37		CCDS46848.1																																																																																				0.581	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		7	190						7	190	---	---	---	---	-	53529195	GAT	-	53529193	7	5	236	1	0	1	0	1	0	0	0	0	2541	1189	41	0	2	0	CACNA1D	3	53529193	Start_Codon_Del	DEL	GAT	TCGA-EL-A3T2-01A-11D-A22D-08		53529193	144493237	5	5063											
MAGI1	9223	broad.mit.edu	37	chr3	65365210	65365210	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaggctggcgagggcacCtcgttctcggttttgggcac	17	10	1	0			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr3:65365210C>T	ENST00000497477.2	-	17	2720	c.2721G>A	c.(2719-2721)gaG>gaA	p.E907E	MAGI1_ENST00000483466.1_Silent_p.E935E|MAGI1_ENST00000330909.8_Silent_p.E935E|MAGI1_ENST00000402939.2_Silent_p.E907E			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	935					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GCGAGGGCACCTCGTTCTCGG	0.622																																						ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(2803-2805)gaG>gaA		membrane associated guanylate kinase, WW and PDZ domain containing 1							110	116	114					3																	65365210		2203	4300	6503	SO:0001819	synonymous_variant	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65365210C>T	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"BAI1-associated protein 1"	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.2721G>A	3.37:g.65365210C>T						MAGI1_ENST00000402939.2_Silent_p.E907E|MAGI1_ENST00000483466.1_Silent_p.E935E|MAGI1_ENST00000497477.2_Silent_p.E907E	p.E935E	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	18	2804	-		Lung NSC(201;0.0016)	935					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000497477.2	37	c.2805G>A		.	.	.	.	.	.	.	.	.	.	C	7.423	0.637063	0.14386	.	.	ENSG00000151276	ENST00000460329	.	.	.	5.24	4.36	0.52297	.	.	.	.	.	T	0.55847	0.1946	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53019	-0.8497	4	.	.	.	-24.1512	6.3218	0.21223	0.0:0.677:0.0:0.323	.	.	.	.	K	816	.	.	R	-	2	0	MAGI1	65340250	0.998000	0.40836	1.000000	0.80357	0.832000	0.47134	0.426000	0.21363	1.193000	0.43086	0.591000	0.81541	AGG		0.622	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		79	141	0	0	0	1	0	79	141					T	65365210	C	T	65365210	2	4	236	1	0	0	0	0	0	0	0	1	9190	680	24	2		2	MAGI1	3	65365210	Silent	SNP	C	TCGA-EL-A3T2-01A-11D-A22D-08	11836017	65365210	132657220	6	5064											
GBE1	2632	broad.mit.edu	37	chr3	81699052	81699052	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacgatacaagatctctccGcttttactagtaataactac	4	10	1	1			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr3:81699052G>A	ENST00000429644.2	-	4	1093	c.450C>T	c.(448-450)agC>agT	p.S150S	GBE1_ENST00000489715.1_Silent_p.S109S	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	150					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		AGATCTCTCCGCTTTTACTAG	0.368									Glycogen Storage Disease, type IV																													ENST00000429644.2																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(448-450)agC>agT		glucan (1,4-alpha-), branching enzyme 1							78	73	75					3																	81699052		1859	4102	5961	SO:0001819	synonymous_variant	2632	Glycogen Storage Disease, type IV	Familial Cancer Database	Andersen Disease, Brancher deficiency	glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr3:81699052G>A		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"glycogen branching enzyme", "Andersen disease", "glycogen storage disease type IV"	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.450C>T	3.37:g.81699052G>A						GBE1_ENST00000489715.1_Silent_p.S109S	p.S150S	NM_000158.3	NP_000149.3	Q04446	GLGB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)	4	1093	-		Lung NSC(201;0.0117)	150					B3KWV3|Q96EN0	Silent	SNP	ENST00000429644.2	37	c.450C>T	CCDS54612.1																																																																																				0.368	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2			3	39	0	0	0	1	0	3	39					A	81699052	G	A	81699052	2	1	236	1	0	0	0	0	0	0	0	1	6270	1078	38	1		1	GBE1	3	81699052	Silent	SNP	G	TCGA-EL-A3T2-01A-11D-A22D-08	16333842	81699052	116323378	7	5065											
NIPBL	25836	broad.mit.edu	37	chr5	37001181	37001181	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatggattttactgcgtttgGtaaaatcaacttaaaataca	6	5	1	0			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr5:37001181G>A	ENST00000282516.8	+	14	4163		c.e14+1		NIPBL_ENST00000448238.2_Splice_Site	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)						brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ACTGCGTTTGGTAAAATCAAC	0.333																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.e14+1		Nipped-B homolog (Drosophila)							61	66	65					5																	37001181		2202	4293	6495	SO:0001630	splice_region_variant	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37001181G>A	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.3664+1G>A	5.37:g.37001181G>A						NIPBL_ENST00000448238.2_Splice_Site		NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		14	4163	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)							Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Splice_Site	SNP	ENST00000282516.8	37		CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.234926	0.79800	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7272	0.96168	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NIPBL	37036938	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.063000	0.93927	2.646000	0.89796	0.655000	0.94253	.		0.333	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384	Intron	33	45	0	0	0	1	0	33	45					A	37001181	G	A	37001181	5	1	236	1	0	0	0	0	0	0	1	0	10428	1275	44	2	3715	2	NIPBL	5	37001181	Splice_Site	SNP	G	TCGA-EL-A3T2-01A-11D-A22D-08		37001181	143914079	8	5066											
DNAH8	1769	broad.mit.edu	37	chr6	38854566	38854566	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tattgctgtgtgaaatttcaGataactaatgagattgtgcg	10	4	1	3			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr6:38854566G>C	ENST00000359357.3	+	55	7862		c.e55-1		DNAH8_ENST00000449981.2_Splice_Site|DNAH8_ENST00000441566.1_Splice_Site			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8						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						TGAAATTTCAGATAACTAATG	0.338																																						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.e55-1		dynein, axonemal, heavy chain 8							95	91	92					6																	38854566		2203	4300	6503	SO:0001630	splice_region_variant	1769							g.chr6:38854566G>C	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.7609-1G>C	6.37:g.38854566G>C						DNAH8_ENST00000449981.2_Splice_Site|DNAH8_ENST00000441566.1_Splice_Site								55	7862	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Splice_Site	SNP	ENST00000359357.3	37			.	.	.	.	.	.	.	.	.	.	G	23.9	4.472059	0.84533	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0366	0.97561	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH8	38962544	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	9.750000	0.98875	2.736000	0.93811	0.561000	0.74099	.		0.338	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	Intron	7	90	0	0	0	1	0	7	90					C	38854566	G	C	38854566	5	2	236	1	0	0	0	0	0	0	1	0	4607	956	33	4	7818	4	DNAH8	6	38854566	Splice_Site	SNP	G	TCGA-EL-A3T2-01A-11D-A22D-08		38854566	132260501	9	5067											
NFE2L3	9603	broad.mit.edu	37	chr7	26224962	26224962	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctaaagctttgcatatcccTttttctgtagatgaaattgt	7	7	1	2			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr7:26224962T>C	ENST00000056233.3	+	4	1903	c.1644T>C	c.(1642-1644)ccT>ccC	p.P548P		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	548					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						TGCATATCCCTTTTTCTGTAG	0.418																																						ENST00000056233.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						c.(1642-1644)ccT>ccC		nuclear factor, erythroid 2-like 3							125	114	118					7																	26224962		2203	4300	6503	SO:0001819	synonymous_variant	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26224962T>C	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"basic leucine zipper proteins"	7783	protein-coding gene	gene with protein product		604135	"nuclear factor (erythroid-derived 2)-like 3"			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1644T>C	7.37:g.26224962T>C							p.P548P	NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN			4	1903	+			548					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Silent	SNP	ENST00000056233.3	37	c.1644T>C	CCDS5396.1																																																																																				0.418	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			4	79	0	0	0	1	0	4	79					C	26224962	T	C	26224962	2	2	236	1	0	0	0	0	0	0	0	1	10369	1596	56	3		3	NFE2L3	7	26224962	Silent	SNP	T	TCGA-EL-A3T2-01A-11D-A22D-08		26224962	132913701	10	5068											
OR6V1	346517	broad.mit.edu	37	chr7	142750057	142750057	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggccttgacctttgtcctcaGctccttcctggtgaccctca	8	16	2	2			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr7:142750057G>C	ENST00000418316.1	+	1	641	c.620G>C	c.(619-621)aGc>aCc	p.S207T		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TTTGTCCTCAGCTCCTTCCTG	0.542																																						ENST00000418316.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(619-621)aGc>aCc		olfactory receptor, family 6, subfamily V, member 1							173	177	176					7																	142750057		2065	4223	6288	SO:0001583	missense	346517				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142750057G>C		CCDS47728.1	7q34	2014-05-06			ENSG00000225781	ENSG00000225781		"GPCR / Class A : Olfactory receptors"	15090	protein-coding gene	gene with protein product						12732197	Standard	NM_001001667		Approved	GPR138	uc011ksv.2	Q8N148	OTTHUMG00000158385	ENST00000418316.1:c.620G>C	7.37:g.142750057G>C	ENSP00000396085:p.Ser207Thr						p.S207T	NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN			1	641	+	Melanoma(164;0.059)		207					A4D2I0|B9EH48|Q6IF70	Missense_Mutation	SNP	ENST00000418316.1	37	c.620G>C	CCDS47728.1	.	.	.	.	.	.	.	.	.	.	G	4.871	0.161832	0.09287	.	.	ENSG00000225781	ENST00000418316	T	0.37058	1.22	4.48	3.61	0.41365	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.20780	0.0500	N	0.11756	0.17	0.20074	N	0.999931	P	0.37207	0.587	B	0.35039	0.194	T	0.07385	-1.0775	9	0.25106	T	0.35	.	12.4012	0.55414	0.0:0.171:0.829:0.0	.	207	Q8N148	OR6V1_HUMAN	T	207	ENSP00000396085:S207T	ENSP00000396085:S207T	S	+	2	0	OR6V1	142460179	0.000000	0.05858	1.000000	0.80357	0.990000	0.78478	0.148000	0.16224	1.129000	0.42072	-0.121000	0.15023	AGC		0.542	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350860.1			4	203	0	0	0	1	0	4	203					C	142750057	G	C	142750057	3	2	236	1	0	0	0	0	1	0	0	0	11211	971	34	4	622	4	OR6V1	7	142750057	Missense_Mutation	SNP	G	TCGA-EL-A3T2-01A-11D-A22D-08	116525095	142750057	16388606	11	5069											
WHSC1L1	54904	broad.mit.edu	37	chr8	38187086	38187086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggctattttaacaggcGgtggctcttcctcttccgca	9	13	2	0			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr8:38187086G>A	ENST00000317025.8	-	6	1908	c.1391C>T	c.(1390-1392)cCg>cTg	p.P464L	WHSC1L1_ENST00000433384.2_Missense_Mutation_p.P464L|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.P464L|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.P464L	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	464					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TTTAACAGGCGGTGGCTCTTC	0.517			T	NUP98	AML																																	ENST00000317025.8				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1390-1392)cCg>cTg		Wolf-Hirschhorn syndrome candidate 1-like 1							99	96	97					8																	38187086		2203	4300	6503	SO:0001583	missense	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38187086G>A	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.1391C>T	8.37:g.38187086G>A	ENSP00000313983:p.Pro464Leu					WHSC1L1_ENST00000527502.1_Missense_Mutation_p.P464L|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.P464L|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.P464L	p.P464L	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		6	1908	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	464					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	c.1391C>T	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.814959	0.90790	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502;ENST00000316985	D;D;D;T	0.96522	-4.04;-4.0;-3.99;-0.85	5.41	5.41	0.78517	.	0.000000	0.48286	U	0.000195	D	0.97458	0.9168	L	0.50333	1.59	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.999;1.0;0.998	D	0.98052	1.0388	10	0.62326	D	0.03	.	19.2087	0.93746	0.0:0.0:1.0:0.0	.	464;464;464;464	B7ZL11;Q9BZ95-2;Q9BZ95-3;Q9BZ95	.;.;.;NSD3_HUMAN	L	464;464;401;464;464	ENSP00000393284:P464L;ENSP00000313983:P464L;ENSP00000434730:P464L;ENSP00000313410:P464L	ENSP00000313410:P464L	P	-	2	0	WHSC1L1	38306243	1.000000	0.71417	0.953000	0.39169	0.961000	0.63080	8.640000	0.91028	2.532000	0.85374	0.650000	0.86243	CCG		0.517	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		34	45	0	0	0	1	0	34	45					A	38187086	G	A	38187086	3	1	236	1	0	0	0	0	1	0	0	0	17360	1116	39	1	3085	1	WHSC1L1	8	38187086	Missense_Mutation	SNP	G	TCGA-EL-A3T2-01A-11D-A22D-08		38187086	108176936	12	5070											
C9orf103	414328	broad.mit.edu	37	chr9	86258573	86258573	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attttatgccccctgaattaTtgcagtcccagtttgagact	7	10	0	2	rs138577393		TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr9:86258573T>C	ENST00000376419.4	+	5	446	c.442T>C	c.(442-444)Ttg>Ctg	p.L148L	IDNK_ENST00000405990.3_3'UTR|IDNK_ENST00000277124.8_Silent_p.L102L|IDNK_ENST00000376417.4_3'UTR|IDNK_ENST00000454393.1_Silent_p.L191L	NM_001001551.3	NP_001001551.2	Q5T6J7	GNTK_HUMAN	idnK, gluconokinase homolog (E. coli)	148					D-gluconate catabolic process (GO:0046177)		ATP binding (GO:0005524)|gluconokinase activity (GO:0046316)										CCCTGAATTATTGCAGTCCCA	0.463																																						ENST00000277124.8																			0											c.(304-306)Ttg>Ctg		idnK, gluconokinase homolog (E. coli)		T	,	0,4406		0,0,2203	79	84	82		442,	-6.1	0.5	9	dbSNP_134	82	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,utr-3	C9orf103	NM_001001551.2,NM_001190727.1	,	0,2,6501	CC,CT,TT		0.0233,0.0,0.0154	,	148/188,	86258573	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	414328				carbohydrate metabolic process	cytoplasm	ATP binding|gluconokinase activity|shikimate kinase activity	g.chr9:86258573T>C	BC036421	CCDS35048.1, CCDS35048.2, CCDS59134.1	9q21.32	2012-03-30	2012-03-30	2012-03-30	ENSG00000148057	ENSG00000148057			31367	protein-coding gene	gene with protein product		611343	"chromosome 9 open reading frame 103"	C9orf103			Standard	NM_001001551		Approved	bA522I20.2	uc004amu.3	Q5T6J7	OTTHUMG00000020105	ENST00000376419.4:c.442T>C	9.37:g.86258573T>C						IDNK_ENST00000405990.3_3'UTR|IDNK_ENST00000376417.4_3'UTR|IDNK_ENST00000454393.1_Silent_p.L191L|IDNK_ENST00000376419.4_Silent_p.L148L	p.L102L	NM_001256915.1	NP_001243844.1	Q5T6J7	GNTK_HUMAN			6	1149	+			148					A5PLN6|Q5T6J6	Silent	SNP	ENST00000376419.4	37	c.304T>C	CCDS35048.2																																																																																				0.463	IDNK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052837.2	NM_001001551		4	104	0	0	0	1	0	4	104					C	86258573	T	C	86258573	2	2	236	1	0	0	0	0	0	0	0	1	2446	1490	52	3		3	C9orf103	9	86258573	Silent	SNP	T	TCGA-EL-A3T2-01A-11D-A22D-08		86258573	54954858	13	5071											
FCN2	2220	broad.mit.edu	37	chr9	137779025	137779025	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgcacaggagattccctgAcgttccacaacaaccagtcc	7	16	0	2			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr9:137779025A>G	ENST00000291744.6	+	8	716	c.706A>G	c.(706-708)Acg>Gcg	p.T236A	FCN2_ENST00000350339.2_Missense_Mutation_p.T198A	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	236	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.		T -> M (in dbSNP:rs17549193).		complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|opsonization (GO:0008228)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		AGATTCCCTGACGTTCCACAA	0.468																																						ENST00000350339.2																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20						c.(592-594)Acg>Gcg		ficolin (collagen/fibrinogen domain containing lectin) 2							161	141	147					9																	137779025		2203	4300	6503	SO:0001583	missense	2220				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding	g.chr9:137779025A>G	D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339		"Fibrinogen C domain containing"	3624	protein-coding gene	gene with protein product	"hucolin", "collagen/fibrinogen domain-containing protein 2", "ficolin B", "serum lectin p35", "L-ficolin"	601624	"ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)"			8884275	Standard	XM_006717015		Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.706A>G	9.37:g.137779025A>G	ENSP00000291744:p.Thr236Ala					FCN2_ENST00000291744.6_Missense_Mutation_p.T236A	p.T198A	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)	7	606	+		Myeloproliferative disorder(178;0.0333)	236			Fibrinogen C-terminal.		A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Missense_Mutation	SNP	ENST00000291744.6	37	c.592A>G	CCDS6983.1	.	.	.	.	.	.	.	.	.	.	A	9.522	1.108482	0.20714	.	.	ENSG00000160339	ENST00000350339;ENST00000291744	T;T	0.77620	-1.11;-1.11	4.05	0.128	0.14733	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.557101	0.14767	N	0.299635	T	0.63283	0.2498	L	0.45422	1.42	0.33603	D	0.602629	B;B	0.09022	0.002;0.001	B;B	0.08055	0.002;0.003	T	0.56269	-0.8007	10	0.42905	T	0.14	.	2.4346	0.04479	0.4298:0.0:0.2136:0.3566	.	198;236	Q15485-2;Q15485	.;FCN2_HUMAN	A	198;236	ENSP00000291741:T198A;ENSP00000291744:T236A	ENSP00000291744:T236A	T	+	1	0	FCN2	136918846	0.042000	0.20092	0.034000	0.17996	0.055000	0.15305	0.625000	0.24477	-0.006000	0.14370	0.460000	0.39030	ACG		0.468	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054960.1	NM_004108		8	113	0	0	0	1	0	8	113					G	137779025	A	G	137779025	3	3	236	1	0	0	0	0	1	0	0	0	5792	275	10	3	736	3	FCN2	9	137779025	Missense_Mutation	SNP	A	TCGA-EL-A3T2-01A-11D-A22D-08	51520452	137779025	3434406	14	5072											
SBF2	81846	broad.mit.edu	37	chr11	10064433	10064433	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaaggttaggcatgagcaGtaatgtcgatctgagtcaat	12	5	2	3			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr11:10064433G>A	ENST00000256190.8	-	3	374	c.237C>T	c.(235-237)taC>taT	p.Y79Y	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	79	UDENN.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GGCATGAGCAGTAATGTCGAT	0.443																																						ENST00000256190.8																			0				breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(235-237)taC>taT		SET binding factor 2							148	123	131					11																	10064433		2201	4294	6495	SO:0001819	synonymous_variant	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:10064433G>A	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	2135	protein-coding gene	gene with protein product	"myotubularin related 13"	607697	"Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)", "DENN/MADD domain containing 7B"	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.237C>T	11.37:g.10064433G>A						SBF2_ENST00000527019.1_5'UTR	p.Y79Y	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	3	374	-			79			UDENN.		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Silent	SNP	ENST00000256190.8	37	c.237C>T	CCDS31427.1																																																																																				0.443	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		3	138	0	0	0	1	0	3	138					A	10064433	G	A	10064433	2	1	236	1	0	0	0	0	0	0	0	1	13859	1024	36	2		2	SBF2	11	10064433	Silent	SNP	G	TCGA-EL-A3T2-01A-11D-A22D-08		10064433	124942083	15	5073											
ZNF259	8882	broad.mit.edu	37	chr11	116656238	116656238	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagtccacttacttgaagccCcagcatctcttcctgctgtc	6	16	1	1			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr11:116656238C>A	ENST00000227322.3	-	6	756	c.697G>T	c.(697-699)Ggg>Tgg	p.G233W		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN		233					apoptotic process involved in development (GO:1902742)|axon development (GO:0061564)|Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA endoreduplication (GO:0042023)|inner cell mass cell proliferation (GO:0001833)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of motor neuron apoptotic process (GO:2000672)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of RNA splicing (GO:0033120)|positive regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071931)|pre-mRNA catabolic process (GO:1990261)|regulation of myelination (GO:0031641)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|trophectodermal cell proliferation (GO:0001834)	axon (GO:0030424)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|SMN complex (GO:0032797)	translation initiation factor binding (GO:0031369)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		ACTTGAAGCCCCAGCATCTCT	0.502																																						ENST00000227322.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(697-699)Ggg>Tgg		zinc finger protein 259							127	111	117					11																	116656238		2201	4296	6497	SO:0001583	missense	8882				cell proliferation|signal transduction	cytoplasm|nucleolus		g.chr11:116656238C>A																												ENST00000227322.3:c.697G>T	11.37:g.116656238C>A	ENSP00000227322:p.Gly233Trp						p.G233W	NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)	6	756	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	233					Q2TAA0	Missense_Mutation	SNP	ENST00000227322.3	37	c.697G>T	CCDS8375.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	18.19|18.19|18.19	3.567953|3.567953|3.567953	0.65651|0.65651|0.65651	.|.|.	.|.|.	ENSG00000109917|ENSG00000109917|ENSG00000109917	ENST00000429220|ENST00000227322|ENST00000444935	.|T|.	.|0.62639|.	.|0.01|.	5.65|5.65|5.65	5.65|5.65|5.65	0.86999|0.86999|0.86999	.|Zinc finger, ZPR1-type (1);|.	0.000000|0.000000|.	0.85682|0.85682|.	D|D|.	0.000000|0.000000|.	D|D|D	0.86422|0.86422|0.86422	0.5929|0.5929|0.5929	M|M|M	0.91561|0.91561|0.91561	3.22|3.22|3.22	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D|.	.|0.89917|.	.|1.0;1.0|.	.|D;D|.	.|0.91635|.	.|0.998;0.999|.	D|D|D	0.88515|0.88515|0.88515	0.3092|0.3092|0.3092	6|10|5	.|0.87932|.	.|D|.	.|0|.	-25.5273|-25.5273|-25.5273	19.7221|19.7221|19.7221	0.96147|0.96147|0.96147	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|182;233|.	.|B4DVT8;O75312|.	.|.;ZPR1_HUMAN|.	V|W|C	175|233|232	.|ENSP00000227322:G233W|.	.|ENSP00000227322:G233W|.	G|G|W	-|-|-	2|1|3	0|0|0	ZNF259|ZNF259|ZNF259	116161448|116161448|116161448	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.081000|0.081000|0.081000	0.17604|0.17604|0.17604	7.216000|7.216000|7.216000	0.77974|0.77974|0.77974	2.679000|2.679000|2.679000	0.91253|0.91253|0.91253	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GGG|GGG|TGG		0.502	ZNF259-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106283.2			4	122	1	0	0.014758	1	0.0161308	4	122					A	116656238	C	A	116656238	3	1	236	1	0	0	0	0	1	0	0	0	17798	623	22	4	718	4	ZNF259	11	116656238	Missense_Mutation	SNP	C	TCGA-EL-A3T2-01A-11D-A22D-08	106591805	116656238	18350278	16	5074											
DENND5B	160518	broad.mit.edu	37	chr12	31600669	31600669	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagcgtgaaagaaatggcAggtaaggctcaggctggtca	15	6	2	3			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr12:31600669A>G	ENST00000389082.5	-	6	1928	c.1664T>C	c.(1663-1665)cTg>cCg	p.L555P	DENND5B_ENST00000306833.6_Missense_Mutation_p.L590P|DENND5B_ENST00000536562.1_Missense_Mutation_p.L590P|DENND5B_ENST00000354285.4_Missense_Mutation_p.L577P|snoU13_ENST00000458765.1_RNA	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	555	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AAGAAATGGCAGGTAAGGCTC	0.403																																						ENST00000389082.5																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1663-1665)cTg>cCg		DENN/MADD domain containing 5B							44	45	45					12																	31600669		1879	4108	5987	SO:0001583	missense	160518					integral to membrane		g.chr12:31600669A>G	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"DENN/MADD domain containing"	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.1664T>C	12.37:g.31600669A>G	ENSP00000373734:p.Leu555Pro					DENND5B_ENST00000536562.1_Missense_Mutation_p.L590P|DENND5B_ENST00000306833.6_Missense_Mutation_p.L590P|DENND5B_ENST00000354285.4_Missense_Mutation_p.L577P	p.L555P	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN			6	1928	-			555			dDENN.		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	c.1664T>C	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.179526	0.78564	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.0	5.0	0.66597	dDENN (3);	0.093243	0.44688	D	0.000422	T	0.62780	0.2456	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.996	T	0.62978	-0.6739	10	0.39692	T	0.17	-11.9046	14.853	0.70313	1.0:0.0:0.0:0.0	.	577;555;590	Q6ZUT9-4;Q6ZUT9;G3V1S3	.;DEN5B_HUMAN;.	P	555;590;590;577	ENSP00000373734:L555P;ENSP00000306482:L590P;ENSP00000444889:L590P;ENSP00000346238:L577P	ENSP00000306482:L590P	L	-	2	0	DENND5B	31491936	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.897000	0.92532	2.096000	0.63516	0.460000	0.39030	CTG		0.403	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		2	13	0	0	0	1	0	2	13					G	31600669	A	G	31600669	3	3	236	1	0	0	0	0	1	0	0	0	4437	188	7	3	2224	3	DENND5B	12	31600669	Missense_Mutation	SNP	A	TCGA-EL-A3T2-01A-11D-A22D-08		31600669	102251226	17	5075											
KDM2B	84678	broad.mit.edu	37	chr12	121877692	121877692	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcggttaaggagtctcggGtggtggtgccaacagcagtg	16	8	2	0			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr12:121877692G>T	ENST00000377071.4	-	22	3869	c.3797C>A	c.(3796-3798)aCc>aAc	p.T1266N	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.T634N|KDM2B_ENST00000377069.4_Missense_Mutation_p.T1197N	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1266					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GGAGTCTCGGGTGGTGGTGCC	0.572																																						ENST00000377069.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(3589-3591)aCc>aAc		lysine (K)-specific demethylase 2B							109	127	121					12																	121877692		2157	4248	6405	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121877692G>T	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13610	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1B"	609078	"F-box and leucine-rich repeat protein 10"	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.3797C>A	12.37:g.121877692G>T	ENSP00000366271:p.Thr1266Asn					KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Missense_Mutation_p.T1266N|KDM2B_ENST00000542973.1_Missense_Mutation_p.T634N	p.T1197N	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN			21	3996	-			1266					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.3590C>A	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	G	34	5.367115	0.95900	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.54675	0.56;0.56;0.56	5.82	5.82	0.92795	.	0.000000	0.53938	D	0.000045	T	0.69886	0.3161	L	0.51422	1.61	0.80722	D	1	D;D;D;P	0.76494	0.987;0.999;0.999;0.659	P;D;D;P	0.80764	0.671;0.994;0.994;0.539	T	0.70378	-0.4888	10	0.87932	D	0	-30.1826	20.1054	0.97890	0.0:0.0:1.0:0.0	.	706;1266;1197;709	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	N	1256;634;1197;1266;709;1269	ENSP00000437821:T634N;ENSP00000366269:T1197N;ENSP00000366271:T1266N	ENSP00000261824:T1269N	T	-	2	0	KDM2B	120362075	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.881000	0.87252	2.757000	0.94681	0.655000	0.94253	ACC		0.572	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		15	50	1	0	2.89027e-11	1	3.23435e-11	15	50					T	121877692	G	T	121877692	3	4	236	1	0	0	0	0	1	0	0	0	8125	1261	44	4	273	4	KDM2B	12	121877692	Missense_Mutation	SNP	G	TCGA-EL-A3T2-01A-11D-A22D-08	90277023	121877692	11974203	18	5076											
MYH6	4624	broad.mit.edu	37	chr14	23858160	23858160	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagttggccttggacaggacGcgctgcagctcggccttggc	16	12	0	0	rs568275249		TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr14:23858160G>A	ENST00000356287.3	-	28	4112	c.4083C>T	c.(4081-4083)cgC>cgT	p.R1361R	MIR208A_ENST00000362287.1_RNA|MYH6_ENST00000405093.3_Silent_p.R1361R			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1361					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)	p.R1361R(1)		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)		TGGACAGGACGCGCTGCAGCT	0.647													G|||	1	0.000199681	0	0	5008	,	,		16451	0		0	False		,,,				2504	0.001					ENST00000405093.3																			1	Substitution - coding silent(1)	p.R1361R(1)	upper_aerodigestive_tract(1)	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.(4081-4083)cgC>cgT		myosin, heavy chain 6, cardiac muscle, alpha							71	63	66					14																	23858160		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.chr14:23858160G>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.4083C>T	14.37:g.23858160G>A						MYH6_ENST00000356287.3_Silent_p.R1361R	p.R1361R	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)	29	4153	-	all_cancers(95;2.54e-05)		1361					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	ENST00000356287.3	37	c.4083C>T	CCDS9600.1																																																																																				0.647	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			4	88	0	0	0	1	0	4	88					A	23858160	G	A	23858160	2	1	236	1	0	0	0	0	0	0	0	1	10038	1074	38	1		1	MYH6	14	23858160	Silent	SNP	G	TCGA-EL-A3T2-01A-11D-A22D-08		23858160	83491380	19	5077											
HSPA2	3306	broad.mit.edu	37	chr14	65008100	65008100	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgcatcatcaacgagcccaCggcggcggccatcgcctacg	12	17	2	0			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr14:65008100C>A	ENST00000394709.1	+	2	609	c.533C>A	c.(532-534)aCg>aAg	p.T178K	RP11-973N13.4_ENST00000554918.1_RNA|HSPA2_ENST00000247207.6_Missense_Mutation_p.T178K|HSPA2_ENST00000554883.1_3'UTR			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	178					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		AACGAGCCCACGGCGGCGGCC	0.642																																					Pancreas(136;1211 1835 24894 31984 38227)	ENST00000247207.6																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22						c.(532-534)aCg>aAg		heat shock 70kDa protein 2							55	60	58					14																	65008100		2203	4299	6502	SO:0001583	missense	3306				response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding	g.chr14:65008100C>A	L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"Heat shock proteins / HSP70"	5235	protein-coding gene	gene with protein product		140560	"heat shock 70kD protein 2"				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.533C>A	14.37:g.65008100C>A	ENSP00000378199:p.Thr178Lys					HSPA2_ENST00000394709.1_Missense_Mutation_p.T178K|HSPA2_ENST00000554883.1_3'UTR	p.T178K	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN		all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)	1	915	+			178					Q15508|Q53XM3|Q9UE78	Missense_Mutation	SNP	ENST00000394709.1	37	c.533C>A	CCDS9766.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.924766	0.73213	.	.	ENSG00000126803	ENST00000394709;ENST00000247207	T;T	0.01787	4.64;4.64	5.18	5.18	0.71444	.	0.000000	0.56097	U	0.000031	T	0.29028	0.0721	H	0.99970	5.12	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	T	0.66536	-0.5899	10	0.87932	D	0	-6.572	18.6851	0.91560	0.0:1.0:0.0:0.0	.	178	P54652	HSP72_HUMAN	K	178	ENSP00000378199:T178K;ENSP00000247207:T178K	ENSP00000247207:T178K	T	+	2	0	HSPA2	64077853	1.000000	0.71417	0.987000	0.45799	0.949000	0.60115	7.818000	0.86416	2.407000	0.81776	0.563000	0.77884	ACG		0.642	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1			3	84	1	0	0.115264	1	0.123123	3	84					A	65008100	C	A	65008100	3	1	236	1	0	0	0	0	1	0	0	0	7411	536	19	4	535	4	HSPA2	14	65008100	Missense_Mutation	SNP	C	TCGA-EL-A3T2-01A-11D-A22D-08	41149940	65008100	42341440	20	5078											
FLVCR2	55640	broad.mit.edu	37	chr14	76101253	76101253	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggggttatggtttccccagGgggaagaagtgaatgctgga	17	5	0	2			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr14:76101253G>C	ENST00000238667.4	+	5	1377	c.1021G>C	c.(1021-1023)Ggg>Cgg	p.G341R	FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000553587.1_Splice_Site_p.G89R|FLVCR2_ENST00000539311.1_Splice_Site_p.G136R|FLVCR2_ENST00000556241.1_3'UTR|FLVCR2_ENST00000555027.1_Splice_Site_p.G56R	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	341					heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		GTTTCCCCAGGGGGAAGAAGT	0.527																																						ENST00000238667.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15						c.e5-1		feline leukemia virus subgroup C cellular receptor family, member 2							98	82	87					14																	76101253		2203	4300	6503	SO:0001630	splice_region_variant	55640				transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity	g.chr14:76101253G>C	AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"Solute carriers"	20105	protein-coding gene	gene with protein product		610865	"chromosome 14 open reading frame 58", "feline leukemia virus subgroup C cellular receptor 2"	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.1021-1G>C	14.37:g.76101253G>C						FLVCR2_ENST00000539311.1_Splice_Site_p.G136_splice|FLVCR2_ENST00000556241.1_3'UTR|FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000553587.1_Splice_Site_p.G89_splice|FLVCR2_ENST00000555027.1_Splice_Site_p.G56_splice	p.G341_splice	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	5	1377	+			341					B7Z485|Q53ZT9|Q96JY3|Q9NX90	Splice_Site	SNP	ENST00000238667.4	37	c.1020_splice	CCDS9844.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855385	0.91355	.	.	ENSG00000119686	ENST00000238667;ENST00000539311;ENST00000553341;ENST00000553587;ENST00000554580;ENST00000555027	T;T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32;0.32	5.57	5.57	0.84162	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.152263	0.64402	D	0.000013	T	0.79511	0.4458	M	0.90595	3.13	0.80722	D	1	P;P	0.44816	0.844;0.844	P;P	0.58780	0.845;0.781	T	0.81879	-0.0730	9	.	.	.	-4.5366	18.3372	0.90293	0.0:0.0:1.0:0.0	.	136;341	B7Z485;Q9UPI3	.;FLVC2_HUMAN	R	341;136;42;89;41;56	ENSP00000238667:G341R;ENSP00000443439:G136R;ENSP00000452584:G42R;ENSP00000451603:G89R;ENSP00000451781:G41R;ENSP00000452453:G56R	.	G	+	1	0	AC007182.1	75171006	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.257000	0.78362	2.630000	0.89119	0.591000	0.81541	GGG		0.527	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413672.1	NM_017791	Missense_Mutation	3	25	0	0	0	1	0	3	25					C	76101253	G	C	76101253	5	2	236	1	0	0	0	0	0	0	1	0	5946	1246	43	4	1039	4	FLVCR2	14	76101253	Splice_Site	SNP	G	TCGA-EL-A3T2-01A-11D-A22D-08	11093153	76101253	31248287	21	5079											
KIAA0284	283638	broad.mit.edu	37	chr14	105353277	105353277	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctggccgctacccgggccGcacgcatggacttccactcc	10	19	0	0			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr14:105353277G>A	ENST00000414716.3	+	12	2929	c.2701G>A	c.(2701-2703)Gca>Aca	p.A901T	CEP170B_ENST00000453495.1_Missense_Mutation_p.A902T|CEP170B_ENST00000556508.1_Missense_Mutation_p.A831T|CEP170B_ENST00000418279.1_Missense_Mutation_p.A831T	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	901						cytoplasm (GO:0005737)|microtubule (GO:0005874)											TACCCGGGCCGCACGCATGGA	0.662																																						ENST00000453495.1																			0											c.(2704-2706)Gca>Aca		centrosomal protein 170B							24	33	30					14																	105353277		1985	4139	6124	SO:0001583	missense	283638							g.chr14:105353277G>A	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"Cep170-related"		"KIAA0284"	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.2701G>A	14.37:g.105353277G>A	ENSP00000404151:p.Ala901Thr					CEP170B_ENST00000556508.1_Missense_Mutation_p.A831T|CEP170B_ENST00000418279.1_Missense_Mutation_p.A831T|CEP170B_ENST00000414716.3_Missense_Mutation_p.A901T	p.A902T							12	2932	+								Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	c.2704G>A	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	G	5.089	0.202026	0.09652	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	4.48	-7.53	0.01336	.	1.713730	0.03138	N	0.166219	T	0.18841	0.0452	N	0.19112	0.55	0.09310	N	1	B;B;B	0.19445	0.016;0.036;0.024	B;B;B	0.14578	0.011;0.007;0.008	T	0.13150	-1.0520	10	0.12430	T	0.62	-1.4908	1.2183	0.01918	0.3767:0.0982:0.3191:0.206	.	901;901;831	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	T	831;901;902;831	ENSP00000451249:A831T;ENSP00000404151:A901T;ENSP00000407238:A902T;ENSP00000415006:A831T	ENSP00000404151:A901T	A	+	1	0	KIAA0284	104424322	0.000000	0.05858	0.099000	0.21106	0.475000	0.33008	-0.317000	0.08060	-0.683000	0.05190	0.491000	0.48974	GCA		0.662	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		3	65	0	0	0	1	0	3	65					A	105353277	G	A	105353277	3	1	236	1	0	0	0	0	1	0	0	0	8166	1087	38	1	2743	1	KIAA0284	14	105353277	Missense_Mutation	SNP	G	TCGA-EL-A3T2-01A-11D-A22D-08	29252024	105353277	1996263	22	5080											
TSR1	55720	broad.mit.edu	37	chr17	2238870	2238870	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acagcagcataaagttctggGtgtttcccaattcattcaag	8	9	3	0			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr17:2238870G>C	ENST00000301364.5	-	3	1435	c.356C>G	c.(355-357)aCc>aGc	p.T119S	SGSM2_ENST00000268989.3_5'Flank|SGSM2_ENST00000426855.2_5'Flank|SGSM2_ENST00000574563.1_5'Flank|TSR1_ENST00000576112.2_Missense_Mutation_p.T119S	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	119	Bms1-type G.				ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						AAAGTTCTGGGTGTTTCCCAA	0.483																																						ENST00000301364.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						c.(355-357)aCc>aGc		TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)							78	71	74					17																	2238870		2203	4300	6503	SO:0001583	missense	55720				ribosome assembly	nucleolus	protein binding	g.chr17:2238870G>C	AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"TSR1, 20S rRNA accumulation, homolog (yeast)"			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.356C>G	17.37:g.2238870G>C	ENSP00000301364:p.Thr119Ser						p.T119S	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN			3	1435	-			119					Q8WUY5|Q9NVT0|Q9P2E6	Missense_Mutation	SNP	ENST00000301364.5	37	c.356C>G	CCDS32525.1	.	.	.	.	.	.	.	.	.	.	G	0.837	-0.743130	0.03088	.	.	ENSG00000167721	ENST00000301364	T	0.46451	0.87	5.71	0.203	0.15195	.	0.610732	0.19613	N	0.110098	T	0.15782	0.0380	N	0.04669	-0.19	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29731	-1.0002	10	0.08599	T	0.76	-4.5815	8.4197	0.32692	0.1164:0.3699:0.5137:0.0	.	119	Q2NL82	TSR1_HUMAN	S	119	ENSP00000301364:T119S	ENSP00000301364:T119S	T	-	2	0	TSR1	2185620	0.003000	0.15002	0.037000	0.18230	0.008000	0.06430	0.622000	0.24433	0.331000	0.23511	-0.304000	0.09214	ACC		0.483	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438180.2	NM_018128		3	115	0	0	0	1	0	3	115					C	2238870	G	C	2238870	3	2	236	1	0	0	0	0	1	0	0	0	16661	1261	44	4	2110	4	TSR1	17	2238870	Missense_Mutation	SNP	G	TCGA-EL-A3T2-01A-11D-A22D-08		2238870	78956340	23	5081											
ABCA6	23460	broad.mit.edu	37	chr17	67125767	67125767	+	Frame_Shift_Del	DEL	A	A	-													ttaccaaagataagccatatAaaaaaaagagtataaatatg							TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr17:67125767delA	ENST00000284425.2	-	7	1091	c.917delT	c.(916-918)ttafs	p.L306fs		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	306					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TAAGCCATATAAAAAAAAGAG	0.308																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(916-918)tafs		ATP-binding cassette, sub-family A (ABC1), member 6							75	81	79					17																	67125767		2202	4295	6497	SO:0001589	frameshift_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67125767delA	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"ATP binding cassette transporters / subfamily A"	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.917delT	17.37:g.67125767delA	ENSP00000284425:p.Leu306fs						p.L306fs	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			7	1091	-	Breast(10;5.65e-12)		306					Q6NSH9|Q8N856|Q8WWZ6	Frame_Shift_Del	DEL	ENST00000284425.2	37	c.917delT	CCDS11683.1																																																																																				0.308	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		7	105						7	105	---	---	---	---	-	67125767	A	-	67125767	7	5	236	1	0	1	0	1	0	0	0	0	36	372	13	0	4068	0	ABCA6	17	67125767	Frame_Shift_Del	DEL	A	TCGA-EL-A3T2-01A-11D-A22D-08	64886897	67125767	14069443	24	5082											
TMX3	54495	broad.mit.edu	37	chr18	66367682	66367682	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaataatatcatcttttgTtcgtggtcctctataattat	4	8	4	0			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr18:66367682T>C	ENST00000299608.2	-	6	668	c.352A>G	c.(352-354)Aca>Gca	p.T118A	TMX3_ENST00000443099.2_Intron|TMX3_ENST00000562706.1_Missense_Mutation_p.T118A	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	118	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						TCATCTTTTGTTCGTGGTCCT	0.254																																						ENST00000299608.2																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(352-354)Aca>Gca		thioredoxin-related transmembrane protein 3							88	94	92					18																	66367682		2203	4286	6489	SO:0001583	missense	54495				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr18:66367682T>C	BX647846	CCDS32840.1	18q22	2011-10-19	2009-02-23	2009-02-23		ENSG00000166479		"Protein disulfide isomerases"	24718	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 13"		"thioredoxin domain containing 10"	TXNDC10		15623505	Standard	NM_019022		Approved	FLJ20793, KIAA1830, PDIA13	uc002lkf.3	Q96JJ7		ENST00000299608.2:c.352A>G	18.37:g.66367682T>C	ENSP00000299608:p.Thr118Ala					TMX3_ENST00000562706.1_Missense_Mutation_p.T118A|TMX3_ENST00000443099.2_Intron	p.T118A	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN			6	668	-			118			Thioredoxin.		B3KV75|Q52LT7|Q8N5J0|Q9NWJ9	Missense_Mutation	SNP	ENST00000299608.2	37	c.352A>G	CCDS32840.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.875344	0.91664	.	.	ENSG00000166479	ENST00000299608;ENST00000544714	T	0.42131	0.98	5.99	5.99	0.97316	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.62768	0.2455	M	0.75150	2.29	0.80722	D	1	D;D	0.69078	0.991;0.997	P;D	0.68353	0.853;0.957	T	0.60571	-0.7237	10	0.28530	T	0.3	.	15.2959	0.73906	0.0:0.0:0.0:1.0	.	118;118	Q96JJ7-2;Q96JJ7	.;TMX3_HUMAN	A	118	ENSP00000299608:T118A	ENSP00000299608:T118A	T	-	1	0	TMX3	64518662	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	7.937000	0.87672	2.292000	0.77174	0.482000	0.46254	ACA		0.254	TMX3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420155.1	NM_019022		10	105	0	0	0	1	0	10	105					C	66367682	T	C	66367682	3	2	236	1	0	0	0	0	1	0	0	0	16265	1725	60	3	1056	3	TMX3	18	66367682	Missense_Mutation	SNP	T	TCGA-EL-A3T2-01A-11D-A22D-08		66367682	11709566	25	5083											
REXO1	57455	broad.mit.edu	37	chr19	1828209	1828209	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccagggcaccgccacccccTccacctctgccctgacccct	6	24	1	1			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr19:1828209T>C	ENST00000170168.4	-	2	673	c.579A>G	c.(577-579)ggA>ggG	p.G193G	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	193	Poly-Gly.					nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		CGCCACCCCCTCCACCTCTGC	0.706																																						ENST00000170168.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16						c.(577-579)ggA>ggG		REX1, RNA exonuclease 1 homolog (S. cerevisiae)							16	20	18					19																	1828209		2193	4273	6466	SO:0001819	synonymous_variant	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1828209T>C	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"elongin A binding protein 1"	609614	"transcription elongation factor B polypeptide 3 binding protein 1"	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.579A>G	19.37:g.1828209T>C						REXO1_ENST00000587524.1_5'UTR	p.G193G	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_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)	2	673	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	193			Poly-Gly.		Q9ULT2	Silent	SNP	ENST00000170168.4	37	c.579A>G	CCDS32866.1																																																																																				0.706	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		2	21	0	0	0	1	0	2	21					C	1828209	T	C	1828209	2	2	236	1	0	0	0	0	0	0	0	1	13241	1538	54	3		3	REXO1	19	1828209	Silent	SNP	T	TCGA-EL-A3T2-01A-11D-A22D-08		1828209	57300774	26	5084											
NANOS2	339345	broad.mit.edu	37	chr19	46417736	46417736	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgaggagtagacgtggcgGgactccccgttgtgcttgca	16	9	0	2			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr19:46417736G>A	ENST00000341294.2	-	1	300	c.216C>T	c.(214-216)tcC>tcT	p.S72S		NM_001029861.2	NP_001025032.1	P60321	NANO2_HUMAN	nanos homolog 2 (Drosophila)	72					germ-line stem cell maintenance (GO:0030718)|mRNA catabolic process (GO:0006402)|multicellular organismal development (GO:0007275)|negative regulation of meiosis (GO:0045835)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	mRNA binding (GO:0003729)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		AGACGTGGCGGGACTCCCCGT	0.692																																						ENST00000341294.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6						c.(214-216)tcC>tcT		nanos homolog 2 (Drosophila)							69	63	65					19																	46417736		2203	4300	6503	SO:0001819	synonymous_variant	339345				germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding	g.chr19:46417736G>A	BC042883	CCDS33056.1	19q13.32	2003-12-01				ENSG00000188425			23292	protein-coding gene	gene with protein product		608228				12947200, 12690449	Standard	NM_001029861		Approved	NOS2	uc002pdu.3	P60321		ENST00000341294.2:c.216C>T	19.37:g.46417736G>A							p.S72S	NM_001029861.2	NP_001025032.1	P60321	NANO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)	1	300	-		Ovarian(192;0.0308)|all_neural(266;0.0476)	72					Q17R30|Q4G0P8	Silent	SNP	ENST00000341294.2	37	c.216C>T	CCDS33056.1																																																																																				0.692	NANOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461685.1			3	82	0	0	0	1	0	3	82					A	46417736	G	A	46417736	2	1	236	1	0	0	0	0	0	0	0	1	10152	1219	43	2		2	NANOS2	19	46417736	Silent	SNP	G	TCGA-EL-A3T2-01A-11D-A22D-08	44589527	46417736	12711247	27	5085											
KRTAP8-1	337879	broad.mit.edu	37	chr21	32185391	32185391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcctgtagccgaaagcccCacagccgttgtagccatagc	9	15	1	0			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr21:32185391C>T	ENST00000329621.4	-	1	179	c.148G>A	c.(148-150)Ggg>Agg	p.G50R		NM_175857.3	NP_787053.1	Q8IUC2	KRA81_HUMAN	keratin associated protein 8-1	50	12 X 2 AA repeats of G-[YCGS].					intermediate filament (GO:0005882)				central_nervous_system(1)|large_intestine(1)|lung(4)	6						CCGAAAGCCCCACAGCCGTTG	0.567																																						ENST00000329621.4																			0				central_nervous_system(1)|large_intestine(1)|lung(4)	6						c.(148-150)Ggg>Agg		keratin associated protein 8-1							85	79	81					21																	32185391		2203	4300	6503	SO:0001583	missense	0					intermediate filament		g.chr21:32185391C>T	AJ457064	CCDS13607.1	21q22.1	2006-03-13			ENSG00000183640	ENSG00000183640		"Keratin associated proteins"	18935	protein-coding gene	gene with protein product						12359730	Standard	NM_175857		Approved	KAP8.1	uc002you.3	Q8IUC2	OTTHUMG00000057771	ENST00000329621.4:c.148G>A	21.37:g.32185391C>T	ENSP00000332805:p.Gly50Arg						p.G50R	NM_175857.3	NP_787053.1	Q8IUC2	KRA81_HUMAN			1	179	-			50			12 X 2 AA repeats of G-[YCGS].		Q3LI57	Missense_Mutation	SNP	ENST00000329621.4	37	c.148G>A	CCDS13607.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.527788	0.27299	.	.	ENSG00000183640	ENST00000329621	T	0.07567	3.18	5.41	3.46	0.39613	.	0.341304	0.20764	N	0.086105	T	0.07818	0.0196	.	.	.	0.28917	N	0.892349	P	0.42961	0.795	B	0.43950	0.437	T	0.13361	-1.0512	9	0.24483	T	0.36	-10.6446	8.4956	0.33125	0.1746:0.6569:0.1685:0.0	.	50	Q8IUC2	KRA81_HUMAN	R	50	ENSP00000332805:G50R	ENSP00000332805:G50R	G	-	1	0	KRTAP8-1	31107262	0.808000	0.29022	0.442000	0.26870	0.288000	0.27193	0.782000	0.26788	1.402000	0.46780	0.655000	0.94253	GGG		0.567	KRTAP8-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128223.1			8	160	0	0	0	1	0	8	160					T	32185391	C	T	32185391	3	4	236	1	0	0	0	0	1	0	0	0	8572	594	21	2	47	2	KRTAP8-1	21	32185391	Missense_Mutation	SNP	C	TCGA-EL-A3T2-01A-11D-A22D-08		32185391	15944504	28	5086											
MYO18B	84700	broad.mit.edu	37	chr22	26219630	26219630	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccgatggggcctcgaggatGaggaaaccagctcaggtaca	15	10	1	1			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr22:26219630G>A	ENST00000407587.2	+	13	2849	c.2680G>A	c.(2680-2682)Gag>Aag	p.E894K	MYO18B_ENST00000536101.1_Missense_Mutation_p.E894K|MYO18B_ENST00000335473.7_Missense_Mutation_p.E894K			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	894	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCTCGAGGATGAGGAAACCAG	0.562																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(2680-2682)Gag>Aag		myosin XVIIIB							165	158	161					22																	26219630		2036	4182	6218	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26219630G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.2680G>A	22.37:g.26219630G>A	ENSP00000386096:p.Glu894Lys					MYO18B_ENST00000407587.2_Missense_Mutation_p.E894K|MYO18B_ENST00000536101.1_Missense_Mutation_p.E894K	p.E894K	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			13	2930	+			894			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.2680G>A		.	.	.	.	.	.	.	.	.	.	G	10.45	1.353080	0.24512	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.89123	-2.47;-2.47;-2.47	4.31	0.53	0.17102	Myosin head, motor domain (2);	1.161200	0.06593	N	0.752423	D	0.84561	0.5499	L	0.54323	1.7	0.26882	N	0.967518	P;P;P;P	0.40534	0.525;0.72;0.617;0.673	B;B;B;B	0.37387	0.115;0.248;0.173;0.16	T	0.72181	-0.4368	10	0.31617	T	0.26	.	7.6214	0.28187	0.096:0.3139:0.5901:0.0	.	407;894;894;894	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	K	894	ENSP00000441229:E894K;ENSP00000334563:E894K;ENSP00000386096:E894K	ENSP00000334563:E894K	E	+	1	0	MYO18B	24549630	1.000000	0.71417	0.186000	0.23195	0.077000	0.17291	3.548000	0.53670	0.447000	0.26695	0.448000	0.29417	GAG		0.562	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		4	135	0	0	0	1	0	4	135					A	26219630	G	A	26219630	3	1	236	1	0	0	0	0	1	0	0	0	10066	1291	45	2	2726	2	MYO18B	22	26219630	Missense_Mutation	SNP	G	TCGA-EL-A3T2-01A-11D-A22D-08		26219630	25084936	29	5087											
ZFX	7543	broad.mit.edu	37	chrX	24228800	24228800	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccatactggggagaagccGtaccaatgccagtactgcga	11	11	0	1			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chrX:24228800G>A	ENST00000379177.1	+	11	2152	c.1725G>A	c.(1723-1725)ccG>ccA	p.P575P	ZFX_ENST00000338565.3_Silent_p.P525P|ZFX_ENST00000379188.3_Silent_p.P575P|ZFX_ENST00000539115.1_Silent_p.P346P|ZFX_ENST00000304543.5_Silent_p.P575P|ZFX_ENST00000540034.1_Silent_p.P614P	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	575					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						GGGAGAAGCCGTACCAATGCC	0.438																																					Esophageal Squamous(20;306 562 7346 32868 37983)	ENST00000379177.1																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						c.(1723-1725)ccG>ccA		zinc finger protein, X-linked							97	88	91					X																	24228800		2203	4300	6503	SO:0001819	synonymous_variant	7543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chrX:24228800G>A		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"Zinc fingers, C2H2-type"	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.1725G>A	X.37:g.24228800G>A						ZFX_ENST00000338565.3_Silent_p.P525P|ZFX_ENST00000539115.1_Silent_p.P346P|ZFX_ENST00000379188.3_Silent_p.P575P|ZFX_ENST00000540034.1_Silent_p.P614P|ZFX_ENST00000304543.5_Silent_p.P575P	p.P575P	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN			11	2152	+			575					B9EG97|O43668|Q8WYJ8	Silent	SNP	ENST00000379177.1	37	c.1725G>A	CCDS14211.1																																																																																				0.438	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		3	101	0	0	0	1	0	3	101					A	24228800	G	A	24228800	2	1	236	1	0	0	0	0	0	0	0	1	17658	1132	40	1		1	ZFX	23	24228800	Silent	SNP	G	TCGA-EL-A3T2-01A-11D-A22D-08		24228800	131041760	30	5088											
STAG2	10735	broad.mit.edu	37	chrX	123211862	123211862	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgagtaaaacaaggcagaTagacaaaattcagtgtgcta	9	5	1	3			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chrX:123211862T>G	ENST00000371160.1	+	27	3019	c.2729T>G	c.(2728-2730)aTa>aGa	p.I910R	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.I910R|STAG2_ENST00000371157.3_Missense_Mutation_p.I910R|STAG2_ENST00000371144.3_Missense_Mutation_p.I910R|STAG2_ENST00000371145.3_Missense_Mutation_p.I910R|STAG2_ENST00000354548.5_Missense_Mutation_p.I841R	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	910					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						ACAAGGCAGATAGACAAAATT	0.313																																						ENST00000371160.1																			0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.(2728-2730)aTa>aGa		stromal antigen 2							118	102	108					X																	123211862		2203	4299	6502	SO:0001583	missense	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123211862T>G	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.2729T>G	X.37:g.123211862T>G	ENSP00000360202:p.Ile910Arg					STAG2_ENST00000218089.9_Missense_Mutation_p.I910R|STAG2_ENST00000371157.3_Missense_Mutation_p.I910R|STAG2_ENST00000371145.3_Missense_Mutation_p.I910R|STAG2_ENST00000354548.5_Missense_Mutation_p.I841R|STAG2_ENST00000371144.3_Missense_Mutation_p.I910R|STAG2_ENST00000469481.1_Intron	p.I910R			Q8N3U4	STAG2_HUMAN			27	3019	+			910					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	c.2729T>G	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	T	18.31	3.595386	0.66219	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T	0.35421	1.69;1.33;1.31;1.31;1.69;1.31	5.7	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.56093	0.1962	M	0.80616	2.505	0.80722	D	1	P;D	0.60575	0.942;0.988	P;P	0.60345	0.726;0.873	T	0.56613	-0.7950	10	0.41790	T	0.15	1.0791	11.9485	0.52942	0.0:0.0:0.1433:0.8567	.	910;910	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	R	910;841;910;910;910;910	ENSP00000218089:I910R;ENSP00000346555:I841R;ENSP00000360202:I910R;ENSP00000360199:I910R;ENSP00000360187:I910R;ENSP00000360186:I910R	ENSP00000218089:I910R	I	+	2	0	STAG2	123039543	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.114000	0.71560	0.755000	0.32990	0.412000	0.27726	ATA		0.313	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		38	96	0	0	0	1	0	38	96					G	123211862	T	G	123211862	3	3	236	1	0	0	0	0	1	0	0	0	15242	1406	49	5	2827	5	STAG2	23	123211862	Missense_Mutation	SNP	T	TCGA-EL-A3T2-01A-11D-A22D-08	98983062	123211862	32058698	31	5089											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	24	0	0	3			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		6	65	0	0	0	1	0	6	65					A	150156360	G	A	150156360	2	1	236	1	0	0	0	0	0	0	0	1	7227	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-EL-A3T2-01A-11D-A22D-08	26944498	150156360	5114200	32	5090											
C1QA	712	broad.mit.edu	37	chr1	22965567	22965567	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aacgtggtcatcttcgacacGgtcatcaccaaccaggaaga	9	12	4	1	rs569999510		TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr1:22965567G>C	ENST00000374642.3	+	3	609	c.405G>C	c.(403-405)acG>acC	p.T135T	C1QA_ENST00000402322.1_Silent_p.T135T	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	135	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				cell-cell signaling (GO:0007267)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCTTCGACACGGTCATCACCA	0.602																																						ENST00000374642.3																			0				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6						c.(403-405)acG>acC		complement component 1, q subcomponent, A chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						69	62	65					1																	22965567		2203	4300	6503	SO:0001819	synonymous_variant	712				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22965567G>C	AF135157	CCDS226.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173372	ENSG00000173372		"Complement system"	1241	protein-coding gene	gene with protein product		120550	"complement component 1, q subcomponent, alpha polypeptide"			1537612	Standard	NM_015991		Approved		uc001bfy.3	P02745	OTTHUMG00000002893	ENST00000374642.3:c.405G>C	1.37:g.22965567G>C						C1QA_ENST00000402322.1_Silent_p.T135T	p.T135T	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	3	609	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	135			C1q.		B2R4X2|Q5T963	Silent	SNP	ENST00000374642.3	37	c.405G>C	CCDS226.1	.	.	.	.	.	.	.	.	.	.	G	5.250	0.231602	0.09969	.	.	ENSG00000173372	ENST00000339353	.	.	.	5.48	-0.308	0.12773	.	0.457491	0.16055	N	0.231745	T	0.22975	0.0555	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.18429	-1.0337	6	0.26408	T	0.33	0.0124	5.057	0.14539	0.1461:0.2599:0.4957:0.0982	.	.	.	.	P	130	.	ENSP00000341271:R130P	R	+	2	0	C1QA	22838154	0.002000	0.14202	0.644000	0.29465	0.680000	0.39746	-0.022000	0.12480	0.030000	0.15379	-0.226000	0.12346	CGG		0.602	C1QA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008087.2	NM_015991		3	67	0	0	0	1	0	3	67					C	22965567	G	C	22965567	2	2	237	1	0	0	0	0	0	0	0	1	1954	1103	39	4		4	C1QA	1	22965567	Silent	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08		22965567	226285054	1	5091											
RBBP4	5928	broad.mit.edu	37	chr1	33123032	33123032	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tatattgccgttacagaccaGaagggaaagatttcagcatt	9	7	1	3			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr1:33123032G>A	ENST00000373493.5	+	3	328	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	RBBP4_ENST00000373485.1_Missense_Mutation_p.E57K|RBBP4_ENST00000544435.1_Intron|RBBP4_ENST00000414241.3_Missense_Mutation_p.E56K|RBBP4_ENST00000524393.1_Intron|RBBP4_ENST00000458695.2_Missense_Mutation_p.E22K	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	57					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin assembly (GO:0031497)|chromatin remodeling (GO:0006338)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|nucleosome assembly (GO:0006334)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|NURF complex (GO:0016589)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				TTACAGACCAGAAGGGAAAGA	0.413																																						ENST00000373493.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15						c.(169-171)Gaa>Aaa		retinoblastoma binding protein 4							109	99	102					1																	33123032		2203	4300	6503	SO:0001583	missense	5928				cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding	g.chr1:33123032G>A	BC053904	CCDS366.1, CCDS44105.1, CCDS44106.1	1p35.1	2014-07-17	2001-11-28		ENSG00000162521	ENSG00000162521		"WD repeat domain containing"	9887	protein-coding gene	gene with protein product		602923	"retinoblastoma-binding protein 4"			8350924, 14609955, 17531812	Standard	NM_005610		Approved	RbAp48, NURF55, lin-53	uc001bvr.3	Q09028	OTTHUMG00000007998	ENST00000373493.5:c.169G>A	1.37:g.33123032G>A	ENSP00000362592:p.Glu57Lys					RBBP4_ENST00000373485.1_Missense_Mutation_p.E57K|RBBP4_ENST00000414241.3_Missense_Mutation_p.E56K|RBBP4_ENST00000544435.1_Intron|RBBP4_ENST00000524393.1_Intron|RBBP4_ENST00000458695.2_Missense_Mutation_p.E22K	p.E57K	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN			3	328	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	57					B2R6G9|B4DRH0|D3DPQ3|P31149|Q53H02|Q96BV9	Missense_Mutation	SNP	ENST00000373493.5	37	c.169G>A	CCDS366.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502438	0.44455	.	.	ENSG00000162521	ENST00000414241;ENST00000373493;ENST00000373485;ENST00000458695;ENST00000490500;ENST00000445722	T;T;T;T	0.69306	-0.35;-0.39;-0.28;-0.37	5.13	5.13	0.70059	.	0.044278	0.85682	D	0.000000	T	0.59074	0.2167	L	0.47716	1.5	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.14023	0.004;0.01	T	0.55872	-0.8072	10	0.08599	T	0.76	.	17.9525	0.89058	0.0:0.0:1.0:0.0	.	56;57	Q09028-2;Q09028	.;RBBP4_HUMAN	K	56;57;57;22;22;22	ENSP00000398242:E56K;ENSP00000362592:E57K;ENSP00000362584:E57K;ENSP00000396057:E22K	ENSP00000362584:E57K	E	+	1	0	RBBP4	32895619	1.000000	0.71417	1.000000	0.80357	0.469000	0.32828	9.638000	0.98445	2.559000	0.86315	0.491000	0.48974	GAA		0.413	RBBP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021957.3	NM_005610		6	107	0	0	0	1	0	6	107					A	33123032	G	A	33123032	3	1	237	1	0	0	0	0	1	0	0	0	13101	943	33	2	179	2	RBBP4	1	33123032	Missense_Mutation	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08	10157465	33123032	216127589	2	5092											
ZMYM4	9202	broad.mit.edu	37	chr1	35870639	35870639	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacagggacggaagaagtctAtagtggctgtggagcccagg	16	7	1	1	rs201516168		TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr1:35870639A>G	ENST00000314607.6	+	24	3624	c.3544A>G	c.(3544-3546)Ata>Gta	p.I1182V	ZMYM4_ENST00000373297.2_Missense_Mutation_p.I1093V	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1182					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAAGAAGTCTATAGTGGCTGT	0.413																																						ENST00000314607.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54						c.(3544-3546)Ata>Gta		zinc finger, MYM-type 4		A	VAL/ILE	0,4406		0,0,2203	64	75	71		3544	-4.4	0.8	1		71	1,8597	1.2+/-3.3	0,1,4298	yes	missense	ZMYM4	NM_005095.2	29	0,1,6501	GG,GA,AA		0.0116,0.0,0.0077	benign	1182/1549	35870639	1,13003	2203	4299	6502	SO:0001583	missense	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35870639A>G	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"Zinc fingers, MYM type"	13055	protein-coding gene	gene with protein product		613568	"zinc finger protein 262"	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.3544A>G	1.37:g.35870639A>G	ENSP00000322915:p.Ile1182Val					ZMYM4_ENST00000373297.2_Missense_Mutation_p.I1093V	p.I1182V	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN			24	3624	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	1182					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	37	c.3544A>G	CCDS389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	2.795|2.795	-0.250370|-0.250370	0.05867|0.05867	0.0|0.0	1.16E-4|1.16E-4	ENSG00000146463|ENSG00000146463	ENST00000314607;ENST00000373297|ENST00000457946	T;T|.	0.20881|.	2.06;2.04|.	5.95|5.95	-4.38|-4.38	0.03622|0.03622	.|.	0.640981|.	0.17170|.	N|.	0.184319|.	T|T	0.17323|0.17323	0.0416|0.0416	N|N	0.10874|0.10874	0.06|0.06	0.23769|0.23769	N|N	0.996891|0.996891	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.31166|0.31166	-0.9953|-0.9953	10|5	0.07644|.	T|.	0.81|.	-1.0674|-1.0674	10.2779|10.2779	0.43521|0.43521	0.4378:0.1001:0.4621:0.0|0.4378:0.1001:0.4621:0.0	.|.	1182|.	Q5VZL5|.	ZMYM4_HUMAN|.	V|C	1182;1093|840	ENSP00000322915:I1182V;ENSP00000362394:I1093V|.	ENSP00000322915:I1182V|.	I|Y	+|+	1|2	0|0	ZMYM4|ZMYM4	35643226|35643226	0.861000|0.861000	0.29849|0.29849	0.839000|0.839000	0.33178|0.33178	0.996000|0.996000	0.88848|0.88848	0.316000|0.316000	0.19469|0.19469	-1.133000|-1.133000	0.02903|0.02903	-0.274000|-0.274000	0.10170|0.10170	ATA|TAT		0.413	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		7	112	0	0	0	1	0	7	112					G	35870639	A	G	35870639	3	3	237	1	0	0	0	0	1	0	0	0	17699	449	16	3	3638	3	ZMYM4	1	35870639	Missense_Mutation	SNP	A	TCGA-EL-A3T3-01A-11D-A22D-08	2747607	35870639	213379982	3	5093											
LIPT1	51601	broad.mit.edu	37	chr2	99778836	99778836	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aattgtgagagctctgaatgCtgtccaaccccagctggatg	11	10	1	2			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr2:99778836C>G	ENST00000393473.2	+	3	640	c.416C>G	c.(415-417)gCt>gGt	p.A139G	LIPT1_ENST00000340066.1_Missense_Mutation_p.A139G|LIPT1_ENST00000393471.2_Missense_Mutation_p.A139G|LIPT1_ENST00000393474.3_Missense_Mutation_p.A139G|LIPT1_ENST00000393477.3_Missense_Mutation_p.A139G|MRPL30_ENST00000410042.1_Intron	NM_001204830.1|NM_015929.3	NP_001191759.1|NP_057013.1	Q9Y234	LIPT_HUMAN	lipoyltransferase 1	139	BPL/LPL catalytic. {ECO:0000255|PROSITE- ProRule:PRU01067}.				cellular protein modification process (GO:0006464)|lipid metabolic process (GO:0006629)|protein lipoylation (GO:0009249)	mitochondrion (GO:0005739)	transferase activity, transferring acyl groups (GO:0016746)			large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	GCTCTGAATGCTGTCCAACCC	0.383																																					GBM(84;665 1268 21657 25485 30647)	ENST00000393477.3																			0				large_intestine(6)|lung(1)	7						c.(415-417)gCt>gGt		lipoyltransferase 1	Lipoic Acid(DB00166)						71	67	68					2																	99778836		2203	4300	6503	SO:0001583	missense	51601				lipid metabolic process|protein lipoylation	mitochondrion	acyltransferase activity	g.chr2:99778836C>G	AB017566	CCDS2039.1	2q11.2	2010-11-25			ENSG00000144182	ENSG00000144182	2.3.1.181		29569	protein-coding gene	gene with protein product		610284				10103005	Standard	NM_145197		Approved	MGC12290, MGC13378	uc002szq.4	Q9Y234	OTTHUMG00000130640	ENST00000393473.2:c.416C>G	2.37:g.99778836C>G	ENSP00000377115:p.Ala139Gly					MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000393471.2_Missense_Mutation_p.A139G|LIPT1_ENST00000393473.2_Missense_Mutation_p.A139G|LIPT1_ENST00000393474.3_Missense_Mutation_p.A139G|LIPT1_ENST00000340066.1_Missense_Mutation_p.A139G	p.A139G	NM_145197.2	NP_660198.1	Q9Y234	LIPT_HUMAN			4	768	+			139					Q4ZFZ1	Missense_Mutation	SNP	ENST00000393473.2	37	c.416C>G	CCDS2039.1	.	.	.	.	.	.	.	.	.	.	C	9.625	1.134937	0.21123	.	.	ENSG00000144182	ENST00000393473;ENST00000393477;ENST00000393474;ENST00000340066;ENST00000393471;ENST00000434566	D;D;D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56;-3.56;-3.56	5.07	5.07	0.68467	Biotin/lipoate A/B protein ligase (1);	0.315864	0.32473	N	0.006045	D	0.89476	0.6726	N	0.20328	0.56	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	D	0.84650	0.0700	10	0.26408	T	0.33	-12.0282	17.6112	0.88054	0.0:1.0:0.0:0.0	.	139	Q9Y234	LIPT_HUMAN	G	139	ENSP00000377115:A139G;ENSP00000377118:A139G;ENSP00000377116:A139G;ENSP00000342071:A139G;ENSP00000377114:A139G;ENSP00000393591:A139G	ENSP00000342071:A139G	A	+	2	0	LIPT1	99145268	0.016000	0.18221	0.830000	0.32933	0.998000	0.95712	1.516000	0.35856	2.635000	0.89317	0.650000	0.86243	GCT		0.383	LIPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253128.1	NM_015929		5	76	0	0	0	1	0	5	76					G	99778836	C	G	99778836	3	3	237	1	0	0	0	0	1	0	0	0	8829	797	28	4	418	4	LIPT1	2	99778836	Missense_Mutation	SNP	C	TCGA-EL-A3T3-01A-11D-A22D-08		99778836	143420537	4	5094											
DDX18	8886	broad.mit.edu	37	chr2	118583110	118583110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattgtgtacggatgtggcaGcgagaggactagacattcct	13	7	0	2			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr2:118583110G>A	ENST00000263239.2	+	10	1584	c.1456G>A	c.(1456-1458)Gcg>Acg	p.A486T		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	486	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGATGTGGCAGCGAGAGGACT	0.433																																						ENST00000263239.2																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1456-1458)Gcg>Acg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 18							126	112	117					2																	118583110		2203	4300	6503	SO:0001583	missense	8886						ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr2:118583110G>A	X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"DEAD-boxes"	2741	protein-coding gene	gene with protein product		606355	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.1456G>A	2.37:g.118583110G>A	ENSP00000263239:p.Ala486Thr						p.A486T	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN			10	1584	+			486			Helicase C-terminal.		Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Missense_Mutation	SNP	ENST00000263239.2	37	c.1456G>A	CCDS2120.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328985	0.81690	.	.	ENSG00000088205	ENST00000263239;ENST00000539346;ENST00000415038	T;T	0.05649	3.41;3.41	4.72	4.72	0.59763	Helicase, C-terminal (3);	0.098051	0.64402	N	0.000001	T	0.35828	0.0945	H	0.94503	3.545	0.80722	D	1	D	0.71674	0.998	D	0.67382	0.951	T	0.53330	-0.8454	10	0.87932	D	0	-0.0311	18.2335	0.89942	0.0:0.0:1.0:0.0	.	486	Q9NVP1	DDX18_HUMAN	T	486;225;150	ENSP00000263239:A486T;ENSP00000415604:A150T	ENSP00000263239:A486T	A	+	1	0	DDX18	118299580	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	9.297000	0.96120	2.628000	0.89032	0.650000	0.86243	GCG		0.433	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	NM_006773		3	131	0	0	0	1	0	3	131					A	118583110	G	A	118583110	3	1	237	1	0	0	0	0	1	0	0	0	4345	971	34	2	1494	2	DDX18	2	118583110	Missense_Mutation	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08	18804274	118583110	124616263	5	5095											
ABI2	10152	broad.mit.edu	37	chr2	204259430	204259430	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctttttgtaggcggcacTccccctatcgcacactggag	9	14	1	0			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr2:204259430T>C	ENST00000422511.2	+	6	617	c.586T>C	c.(586-588)Tcc>Ccc	p.S196P	ABI2_ENST00000261017.5_Missense_Mutation_p.S190P|ABI2_ENST00000295851.5_Missense_Mutation_p.S196P|ABI2_ENST00000261018.7_Intron|RAPH1_ENST00000457812.1_3'UTR|ABI2_ENST00000424558.1_Missense_Mutation_p.S190P|ABI2_ENST00000430418.1_Intron|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000261016.6_Missense_Mutation_p.S145P			Q9NYB9	ABI2_HUMAN	abl-interactor 2	196	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|cell migration (GO:0016477)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|Rac protein signal transduction (GO:0016601)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	cytoskeletal adaptor activity (GO:0008093)|DNA binding (GO:0003677)|kinase binding (GO:0019900)|proline-rich region binding (GO:0070064)|protein complex binding (GO:0032403)|SH3 domain binding (GO:0017124)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						TAGGCGGCACTCCCCCTATCG	0.473																																						ENST00000295851.4																			0				breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						c.(586-588)Tcc>Ccc		abl-interactor 2							109	101	103					2																	204259430		2203	4300	6503	SO:0001583	missense	10152				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding	g.chr2:204259430T>C	AF260261	CCDS2358.1, CCDS63093.1, CCDS63094.1, CCDS74634.1	2q33	2010-09-20	2009-07-23		ENSG00000138443	ENSG00000138443			24011	protein-coding gene	gene with protein product		606442				7590236, 10964520	Standard	XM_005246217		Approved	ABI-2, AIP-1, ABI2B, AblBP3, argBPIA, SSH3BP2	uc002uzz.3	Q9NYB9	OTTHUMG00000132879	ENST00000422511.2:c.586T>C	2.37:g.204259430T>C	ENSP00000396249:p.Ser196Pro					ABI2_ENST00000422511.2_Missense_Mutation_p.S196P|RAPH1_ENST00000457812.1_3'UTR|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000261016.6_Missense_Mutation_p.S145P|ABI2_ENST00000261017.5_Missense_Mutation_p.S190P|ABI2_ENST00000261018.7_Intron|ABI2_ENST00000430418.1_Intron|ABI2_ENST00000424558.1_Missense_Mutation_p.S190P	p.S196P			Q9NYB9	ABI2_HUMAN			6	882	+			196			Pro-rich.		B4DSN1|Q13147|Q13249|Q13801|Q9BV70	Missense_Mutation	SNP	ENST00000422511.2	37	c.586T>C		.	.	.	.	.	.	.	.	.	.	T	21.9	4.217353	0.79352	.	.	ENSG00000138443	ENST00000295851;ENST00000261017;ENST00000424558;ENST00000261016;ENST00000417864;ENST00000422511	D;D;D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98;-2.98;-2.98	5.86	5.86	0.93980	.	0.048494	0.85682	D	0.000000	D	0.92756	0.7697	L	0.33485	1.01	0.80722	D	1	D;D;D;P;D;P	0.67145	0.963;0.984;0.994;0.949;0.996;0.841	P;P;P;P;P;P	0.59889	0.61;0.811;0.865;0.743;0.806;0.791	D	0.93759	0.7065	10	0.87932	D	0	-7.5122	16.2652	0.82574	0.0:0.0:0.0:1.0	.	31;134;190;145;196;190	B7Z612;B7Z836;Q9NYB9-4;Q9NYB9-3;Q9NYB9;Q9NYB9-2	.;.;.;.;ABI2_HUMAN;.	P	196;190;190;145;196;196	ENSP00000295851:S196P;ENSP00000261017:S190P;ENSP00000391433:S190P;ENSP00000261016:S145P;ENSP00000414703:S196P;ENSP00000396249:S196P	ENSP00000261016:S145P	S	+	1	0	ABI2	203967675	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.029000	0.70895	2.241000	0.73720	0.528000	0.53228	TCC		0.473	ABI2-007	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000336179.2	NM_005759		3	190	0	0	0	1	0	3	190					C	204259430	T	C	204259430	3	2	237	1	0	0	0	0	1	0	0	0	89	1551	54	3	586	3	ABI2	2	204259430	Missense_Mutation	SNP	T	TCGA-EL-A3T3-01A-11D-A22D-08	85676320	204259430	38939943	6	5096											
SCN5A	6331	broad.mit.edu	37	chr3	38591931	38591931	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggtggctctagtgacactgtCataggagggtgggaaggaag	18	5	2	1			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr3:38591931C>G	ENST00000333535.4	-	28	6081	c.5932G>C	c.(5932-5934)Gac>Cac	p.D1978H	SCN5A_ENST00000449557.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000414099.2_Missense_Mutation_p.D1960H|SCN5A_ENST00000443581.1_Missense_Mutation_p.D1977H|SCN5A_ENST00000425664.1_Missense_Mutation_p.D1960H|SCN5A_ENST00000450102.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000451551.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000413689.1_Missense_Mutation_p.D1978H|SCN5A_ENST00000423572.2_Missense_Mutation_p.D1977H|SCN5A_ENST00000455624.2_Missense_Mutation_p.D1945H			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1978					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)	GTGACACTGTCATAGGAGGGT	0.602																																						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.(5932-5934)Gac>Cac		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)						42	47	45					3																	38591931		2022	4172	6194	SO:0001583	missense	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.chr3:38591931C>G	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.5932G>C	3.37:g.38591931C>G	ENSP00000328968:p.Asp1978His					SCN5A_ENST00000455624.2_Missense_Mutation_p.D1945H|SCN5A_ENST00000451551.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000450102.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000449557.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000443581.1_Missense_Mutation_p.D1977H|SCN5A_ENST00000425664.1_Missense_Mutation_p.D1960H|SCN5A_ENST00000423572.2_Missense_Mutation_p.D1977H|SCN5A_ENST00000414099.2_Missense_Mutation_p.D1960H|SCN5A_ENST00000333535.4_Missense_Mutation_p.D1978H	p.D1978H	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)	28	6125	-	Medulloblastoma(35;0.163)		1978					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.5932G>C	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.565807	0.65651	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96856	-4.02;-4.03;-4.03;-4.08;-4.03;-4.02;-4.03;-4.15;-4.08;-4.08	4.95	4.95	0.65309	.	0.058474	0.64402	D	0.000003	D	0.95529	0.8547	N	0.08118	0	0.54753	D	0.999986	D;D;P;D;D;D	0.89917	0.959;1.0;0.64;0.999;0.958;1.0	P;D;B;D;P;D	0.85130	0.496;0.997;0.387;0.973;0.693;0.996	D	0.97067	0.9775	10	0.62326	D	0.03	.	18.3714	0.90408	0.0:1.0:0.0:0.0	.	1924;1945;1960;1978;1977;1978	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	H	1960;1977;1978;1924;1977;1960;1978;1945;1924;1924	ENSP00000398962:D1960H;ENSP00000398266:D1977H;ENSP00000410257:D1978H;ENSP00000388797:D1924H;ENSP00000397915:D1977H;ENSP00000416634:D1960H;ENSP00000328968:D1978H;ENSP00000399524:D1945H;ENSP00000403355:D1924H;ENSP00000413996:D1924H	ENSP00000328968:D1978H	D	-	1	0	SCN5A	38566935	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	4.781000	0.62389	2.573000	0.86826	0.655000	0.94253	GAC		0.602	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		3	74	0	0	0	1	0	3	74					G	38591931	C	G	38591931	3	3	237	1	0	0	0	0	1	0	0	0	13922	826	29	4	122	4	SCN5A	3	38591931	Missense_Mutation	SNP	C	TCGA-EL-A3T3-01A-11D-A22D-08		38591931	159430499	7	5097											
ERC2	26059	broad.mit.edu	37	chr3	56468821	56468821	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgccctttgggtaggttgttGaagccaccccttcatgatca	10	11	2	2			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr3:56468821G>A	ENST00000288221.6	-	2	470	c.215C>T	c.(214-216)tCa>tTa	p.S72L		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	72						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GTAGGTTGTTGAAGCCACCCC	0.507																																						ENST00000288221.6																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(214-216)tCa>tTa		ELKS/RAB6-interacting/CAST family member 2							176	170	172					3																	56468821		2023	4180	6203	SO:0001583	missense	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:56468821G>A	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.215C>T	3.37:g.56468821G>A	ENSP00000288221:p.Ser72Leu						p.S72L	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	2	470	-			72					Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	c.215C>T	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	G	33	5.211190	0.95069	.	.	ENSG00000187672	ENST00000288221	T	0.42513	0.97	5.76	5.76	0.90799	.	0.058312	0.64402	D	0.000001	T	0.54078	0.1836	L	0.34521	1.04	0.58432	D	0.999996	D	0.54601	0.967	P	0.60789	0.879	T	0.54470	-0.8289	10	0.72032	D	0.01	-13.3325	19.9759	0.97304	0.0:0.0:1.0:0.0	.	72	O15083	ERC2_HUMAN	L	72	ENSP00000288221:S72L	ENSP00000288221:S72L	S	-	2	0	ERC2	56443861	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.476000	0.97823	2.713000	0.92767	0.655000	0.94253	TCA		0.507	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		4	215	0	0	0	1	0	4	215					A	56468821	G	A	56468821	3	1	237	1	0	0	0	0	1	0	0	0	5211	1294	45	2	2712	2	ERC2	3	56468821	Missense_Mutation	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08	17876890	56468821	141553609	8	5098											
GPR78	27201	broad.mit.edu	37	chr4	8588779	8588779	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agctgctccgcttccccaacAggctggcggagctcgtgccc	12	17	0	0			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr4:8588779A>T	ENST00000382487.4	+	3	1199		c.e3-1		GPR78_ENST00000509216.1_Splice_Site	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78						adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CTTCCCCAACAGGCTGGCGGA	0.627																																						ENST00000382487.4																			0				central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.e3-1		G protein-coupled receptor 78							28	30	29					4																	8588779		2200	4291	6491	SO:0001630	splice_region_variant	27201				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr4:8588779A>T	AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"GPCR / Class A : Orphans"	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.783-1A>T	4.37:g.8588779A>T						GPR78_ENST00000509216.1_Splice_Site		NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN			3	1199	+								Q8NGV3	Splice_Site	SNP	ENST00000382487.4	37		CCDS3403.1	.	.	.	.	.	.	.	.	.	.	A	11.56	1.675786	0.29783	.	.	ENSG00000155269	ENST00000382487	.	.	.	3.32	2.12	0.27331	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.3914	0.26911	0.8911:0.0:0.1089:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPR78	8639679	1.000000	0.71417	0.006000	0.13384	0.012000	0.07955	4.058000	0.57463	0.215000	0.20761	0.482000	0.46254	.		0.627	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1		Intron	34	63	0	0	0	1	0	34	63					T	8588779	A	T	8588779	5	4	237	1	0	0	0	0	0	0	1	0	6710	202	7	5	791	5	GPR78	4	8588779	Splice_Site	SNP	A	TCGA-EL-A3T3-01A-11D-A22D-08		8588779	182565497	9	5099											
EGFLAM	133584	broad.mit.edu	37	chr5	38352357	38352357	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcattgtggtttcggattctGaggtggccctgtcttggaaa	13	7	3	1			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr5:38352357G>A	ENST00000354891.3	+	5	815	c.469G>A	c.(469-471)Gag>Aag	p.E157K	EGFLAM_ENST00000322350.5_Missense_Mutation_p.E157K	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	157	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TTCGGATTCTGAGGTGGCCCT	0.507																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(469-471)Gag>Aag		EGF-like, fibronectin type III and laminin G domains							135	131	132					5																	38352357		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38352357G>A	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"Fibronectin type III domain containing"	26810	protein-coding gene	gene with protein product	"pikachurin", "agrin-like"					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.469G>A	5.37:g.38352357G>A	ENSP00000346964:p.Glu157Lys					EGFLAM_ENST00000354891.3_Missense_Mutation_p.E157K	p.E157K	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			5	815	+	all_lung(31;0.000385)		157			Fibronectin type-III 2.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.469G>A	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365170	0.82463	.	.	ENSG00000164318	ENST00000354891;ENST00000322350	T;T	0.56941	0.43;0.43	4.73	3.86	0.44501	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.51329	0.1668	L	0.56396	1.775	0.80722	D	1	P;P	0.42556	0.783;0.57	P;B	0.44518	0.452;0.252	T	0.53613	-0.8414	10	0.72032	D	0.01	-11.1467	8.6955	0.34293	0.1056:0.0:0.8944:0.0	.	157;157	Q63HQ2;Q63HQ2-2	EGFLA_HUMAN;.	K	157	ENSP00000346964:E157K;ENSP00000313084:E157K	ENSP00000313084:E157K	E	+	1	0	EGFLAM	38388114	1.000000	0.71417	0.983000	0.44433	0.893000	0.52053	4.117000	0.57877	0.988000	0.38734	0.563000	0.77884	GAG		0.507	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		18	188	0	0	0	1	0	18	188					A	38352357	G	A	38352357	3	1	237	1	0	0	0	0	1	0	0	0	4966	1291	45	2	487	2	EGFLAM	5	38352357	Missense_Mutation	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08		38352357	142562903	10	5100											
DOCK2	1794	broad.mit.edu	37	chr5	169494626	169494626	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaccctccccatcaacccacTctccatgctcctgaacggga	6	19	2	1			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr5:169494626T>A	ENST00000256935.8	+	45	4660	c.4580T>A	c.(4579-4581)cTc>cAc	p.L1527H	DOCK2_ENST00000540750.1_Missense_Mutation_p.L588H|DOCK2_ENST00000520908.1_Missense_Mutation_p.L1019H|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1527	DHR-2.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.L1527H(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCAACCCACTCTCCATGCTC	0.522																																						ENST00000256935.8																			1	Substitution - Missense(1)	p.L1527H(1)	kidney(1)	NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(4579-4581)cTc>cAc		dedicator of cytokinesis 2							178	163	168					5																	169494626		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169494626T>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4580T>A	5.37:g.169494626T>A	ENSP00000256935:p.Leu1527His					DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.L588H|DOCK2_ENST00000520908.1_Missense_Mutation_p.L1019H	p.L1527H	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		45	4660	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1527			DHR-2.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.4580T>A	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.354110	0.82243	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.37411	1.2;1.2;1.2	4.83	4.83	0.62350	.	0.000000	0.64402	D	0.000001	T	0.69958	0.3169	H	0.94542	3.55	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.80004	-0.1564	10	0.87932	D	0	.	14.6914	0.69087	0.0:0.0:0.0:1.0	.	1019;83;1527	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	H	1527;1019;588	ENSP00000256935:L1527H;ENSP00000429283:L1019H;ENSP00000438827:L588H	ENSP00000256935:L1527H	L	+	2	0	DOCK2	169427204	1.000000	0.71417	0.151000	0.22473	0.863000	0.49368	7.993000	0.88291	1.933000	0.56026	0.460000	0.39030	CTC		0.522	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		4	127	0	0	0	1	0	4	127					A	169494626	T	A	169494626	3	1	237	1	0	0	0	0	1	0	0	0	4687	1551	54	5	4758	5	DOCK2	5	169494626	Missense_Mutation	SNP	T	TCGA-EL-A3T3-01A-11D-A22D-08	131142269	169494626	11420634	11	5101											
IRF4	3662	broad.mit.edu	37	chr6	407546	407546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatttaccagaacacatcaGcaatccagaagattaccaca	5	12	1	3			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr6:407546G>A	ENST00000380956.4	+	9	1430	c.1304G>A	c.(1303-1305)aGc>aAc	p.S435N		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	435					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GAACACATCAGCAATCCAGAA	0.353			T	IGH@	MM																																	ENST00000380956.4				Dom	yes		6	6p25-p23	3662	T	interferon regulatory factor 4			L	IGH@		MM		0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(1303-1305)aGc>aAc		interferon regulatory factor 4							94	93	93					6																	407546		2203	4300	6503	SO:0001583	missense	3662				interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:407546G>A	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.1304G>A	6.37:g.407546G>A	ENSP00000370343:p.Ser435Asn						p.S435N	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)	9	1430	+		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	435					Q5VUI7|Q99660	Missense_Mutation	SNP	ENST00000380956.4	37	c.1304G>A	CCDS4469.1	.	.	.	.	.	.	.	.	.	.	G	6.450	0.451122	0.12223	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.96232	-3.95	5.51	3.67	0.42095	SMAD domain-like (1);SMAD/FHA domain (1);	1.013590	0.07857	N	0.965575	D	0.88407	0.6428	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.81360	-0.0968	10	0.49607	T	0.09	-17.2981	15.3401	0.74290	0.0:0.3953:0.6047:0.0	.	434;435	Q15306-2;Q15306	.;IRF4_HUMAN	N	435;464	ENSP00000370343:S435N	ENSP00000370343:S435N	S	+	2	0	IRF4	352546	0.021000	0.18746	0.595000	0.28798	0.361000	0.29550	0.691000	0.25467	1.311000	0.45024	0.655000	0.94253	AGC		0.353	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			3	67	0	0	0	1	0	3	67					A	407546	G	A	407546	3	1	237	1	0	0	0	0	1	0	0	0	7832	971	34	2	1334	2	IRF4	6	407546	Missense_Mutation	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08		407546	170707521	12	5102											
MLLT4	4301	broad.mit.edu	37	chr6	168352394	168352394	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agttgggccagatgcgcactCagtccttaaaccctgctccg	10	14	1	1			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr6:168352394C>G	ENST00000447894.2	+	29	4339	c.4339C>G	c.(4339-4341)Cag>Gag	p.Q1447E	MLLT4_ENST00000351017.4_Missense_Mutation_p.Q1454E|MLLT4_ENST00000392108.3_Missense_Mutation_p.Q1447E|MLLT4_ENST00000392112.1_Missense_Mutation_p.Q1430E|MLLT4_ENST00000366806.2_Missense_Mutation_p.Q1447E|MLLT4_ENST00000400822.3_Missense_Mutation_p.Q1446E|MLLT4_ENST00000344191.4_Missense_Mutation_p.Q1447E			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1447					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GATGCGCACTCAGTCCTTAAA	0.577			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(4339-4341)Cag>Gag		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							130	118	122					6																	168352394		2203	4300	6503	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168352394C>G	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.4339C>G	6.37:g.168352394C>G	ENSP00000404595:p.Gln1447Glu					MLLT4_ENST00000392108.3_Missense_Mutation_p.Q1447E|MLLT4_ENST00000392112.1_Missense_Mutation_p.Q1430E|MLLT4_ENST00000400822.3_Missense_Mutation_p.Q1446E|MLLT4_ENST00000344191.4_Missense_Mutation_p.Q1447E|MLLT4_ENST00000351017.4_Missense_Mutation_p.Q1454E|MLLT4_ENST00000447894.2_Missense_Mutation_p.Q1447E	p.Q1447E			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	30	4481	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	1447					O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.4339C>G		.	.	.	.	.	.	.	.	.	.	C	10.99	1.508735	0.27036	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.04706	3.76;3.72;3.77;3.8;3.57;3.71;3.71	5.39	5.39	0.77823	.	0.361992	0.29431	N	0.012172	T	0.02533	0.0077	L	0.51422	1.61	0.26362	N	0.977024	P;P;P;P	0.42692	0.495;0.787;0.571;0.571	B;B;B;B	0.41691	0.115;0.364;0.163;0.163	T	0.49283	-0.8956	10	0.06236	T	0.91	-4.5856	19.1739	0.93594	0.0:1.0:0.0:0.0	.	1447;1446;1447;1431	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	E	1447;1454;1447;1447;1430;1447;1446;1447	ENSP00000341118:Q1447E;ENSP00000252692:Q1454E;ENSP00000375956:Q1447E;ENSP00000355771:Q1447E;ENSP00000375960:Q1430E;ENSP00000383623:Q1446E;ENSP00000404595:Q1447E	ENSP00000345834:Q1447E	Q	+	1	0	MLLT4	168095243	0.962000	0.33011	0.019000	0.16419	0.434000	0.31775	5.899000	0.69846	2.526000	0.85167	0.561000	0.74099	CAG		0.577	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		17	263	0	0	0	1	0	17	263					G	168352394	C	G	168352394	3	3	237	1	0	0	0	0	1	0	0	0	9629	827	29	4	4453	4	MLLT4	6	168352394	Missense_Mutation	SNP	C	TCGA-EL-A3T3-01A-11D-A22D-08	167944848	168352394	2762673	13	5103											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		31	45	0	0	0	1	0	31	45					T	140453136	A	T	140453136	3	4	237	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3T3-01A-11D-A22D-08		140453136	18685527	14	5104											
DLC1	10395	broad.mit.edu	37	chr8	12957624	12957624	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccgactggctgctgctgctgCtggtctgcgtggagttggaa	16	10	1	0			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr8:12957624C>G	ENST00000276297.4	-	9	2631	c.2222G>C	c.(2221-2223)aGc>aCc	p.S741T	DLC1_ENST00000512044.2_Missense_Mutation_p.S338T|DLC1_ENST00000520226.1_Missense_Mutation_p.S230T|DLC1_ENST00000358919.2_Missense_Mutation_p.S304T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	741	Focal adhesion-targeting (FAT).|Poly-Ser.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTGCTGCTGCTGGTCTGCGT	0.627																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2221-2223)aGc>aCc		deleted in liver cancer 1							56	47	50					8																	12957624		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957624C>G	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2222G>C	8.37:g.12957624C>G	ENSP00000276297:p.Ser741Thr					DLC1_ENST00000520226.1_Missense_Mutation_p.S230T|DLC1_ENST00000358919.2_Missense_Mutation_p.S304T|DLC1_ENST00000512044.2_Missense_Mutation_p.S338T	p.S741T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2631	-			741			Poly-Ser.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.2222G>C	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320479	0.81469	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.07688	3.42;3.19;3.19;3.17	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.31979	0.0814	M	0.80422	2.495	0.80722	D	1	D;B;D	0.65815	0.995;0.103;0.99	P;B;D	0.72982	0.795;0.132;0.979	T	0.09975	-1.0650	10	0.66056	D	0.02	.	17.9274	0.88987	0.0:1.0:0.0:0.0	.	741;338;304	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	T	741;304;338;230	ENSP00000276297:S741T;ENSP00000351797:S304T;ENSP00000422595:S338T;ENSP00000428028:S230T	ENSP00000276297:S741T	S	-	2	0	DLC1	13001995	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.462000	0.80851	2.527000	0.85204	0.561000	0.74099	AGC		0.627	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		3	98	0	0	0	1	0	3	98					G	12957624	C	G	12957624	3	3	237	1	0	0	0	0	1	0	0	0	4550	797	28	4	2404	4	DLC1	8	12957624	Missense_Mutation	SNP	C	TCGA-EL-A3T3-01A-11D-A22D-08		12957624	133406398	15	5105											
TBC1D2	55357	broad.mit.edu	37	chr9	101017574	101017574	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caagggattggcatcctgagCggtccgcgagtaatacagct	13	10	0	1			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr9:101017574C>G	ENST00000375064.1	-	1	288	c.250G>C	c.(250-252)Gct>Cct	p.A84P	TBC1D2_ENST00000375066.5_Missense_Mutation_p.A84P|TBC1D2_ENST00000342112.5_5'UTR	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	84	Interaction with CADH1.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GCATCCTGAGCGGTCCGCGAG	0.542																																						ENST00000375066.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(250-252)Gct>Cct		TBC1 domain family, member 2							81	82	82					9																	101017574		2203	4300	6503	SO:0001583	missense	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:101017574C>G	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"prostate antigen recognized and identified by SEREX"	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.250G>C	9.37:g.101017574C>G	ENSP00000364205:p.Ala84Pro					TBC1D2_ENST00000375064.1_Missense_Mutation_p.A84P|TBC1D2_ENST00000342112.5_5'UTR	p.A84P	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	1	341	-		Myeloproliferative disorder(762;0.0255)	84			Interaction with CADH1.|PH.		B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375064.1	37	c.250G>C		.	.	.	.	.	.	.	.	.	.	C	12.67	2.006448	0.35415	.	.	ENSG00000095383	ENST00000375064;ENST00000375066	T;T	0.75154	-0.91;-0.91	5.53	5.53	0.82687	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.066669	0.64402	D	0.000017	T	0.53110	0.1776	N	0.02854	-0.475	0.80722	D	1	B;B	0.25521	0.078;0.128	B;B	0.30495	0.054;0.116	T	0.53563	-0.8421	10	0.20046	T	0.44	.	14.9553	0.71107	0.0:1.0:0.0:0.0	.	84;84	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	P	84	ENSP00000364205:A84P;ENSP00000364207:A84P	ENSP00000364205:A84P	A	-	1	0	TBC1D2	100057395	1.000000	0.71417	0.999000	0.59377	0.639000	0.38242	4.089000	0.57685	2.596000	0.87737	0.462000	0.41574	GCT		0.542	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		7	97	0	0	0	1	0	7	97					G	101017574	C	G	101017574	3	3	237	1	0	0	0	0	1	0	0	0	15605	768	27	4	2555	4	TBC1D2	9	101017574	Missense_Mutation	SNP	C	TCGA-EL-A3T3-01A-11D-A22D-08		101017574	40195857	16	5106											
DPP7	29952	broad.mit.edu	37	chr9	140006389	140006389	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgccccaggtgtccaggcaGtaccgctggcggagctcgtc	14	15	0	0			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr9:140006389G>A	ENST00000371579.2	-	10	1147	c.1143C>T	c.(1141-1143)taC>taT	p.Y381Y		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	381						cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		TGTCCAGGCAGTACCGCTGGC	0.657																																						ENST00000371579.2																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						c.(1141-1143)taC>taT		dipeptidyl-peptidase 7							66	76	72					9																	140006389		2203	4300	6503	SO:0001819	synonymous_variant	29952					cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity	g.chr9:140006389G>A	AF154502	CCDS7030.1	9q34.3	2008-02-05	2006-01-12		ENSG00000176978	ENSG00000176978			14892	protein-coding gene	gene with protein product		610537	"dipeptidylpeptidase 7"			10477574, 11139392	Standard	XM_005266075		Approved	DPPII	uc004clh.3	Q9UHL4	OTTHUMG00000020977	ENST00000371579.2:c.1143C>T	9.37:g.140006389G>A							p.Y381Y	NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)	10	1147	-	all_cancers(76;0.0926)		381					A8K7U7|Q5VSF1|Q969X4	Silent	SNP	ENST00000371579.2	37	c.1143C>T	CCDS7030.1																																																																																				0.657	DPP7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055279.1	NM_013379		3	78	0	0	0	1	0	3	78					A	140006389	G	A	140006389	2	1	237	1	0	0	0	0	0	0	0	1	4731	1024	36	2		2	DPP7	9	140006389	Silent	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08	38988815	140006389	1207042	17	5107											
GPAM	57678	broad.mit.edu	37	chr10	113920471	113920471	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataaaaaactcatcgttcctGctagtgtgggtgattgtgac	10	7	1	2			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr10:113920471G>A	ENST00000348367.4	-	16	1847	c.1650C>T	c.(1648-1650)agC>agT	p.S550S	GPAM_ENST00000423155.1_Silent_p.S550S|GPAM_ENST00000369425.1_Silent_p.S550S			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	550					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		CATCGTTCCTGCTAGTGTGGG	0.458																																					Ovarian(161;1017 2606 18293 52943)	ENST00000348367.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1648-1650)agC>agT		glycerol-3-phosphate acyltransferase, mitochondrial							153	125	135					10																	113920471		2203	4300	6503	SO:0001819	synonymous_variant	57678				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr10:113920471G>A	AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"glycerol-3-phosphate acyltransferase 1, mitochondrial"	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.1650C>T	10.37:g.113920471G>A						GPAM_ENST00000423155.1_Silent_p.S550S|GPAM_ENST00000369425.1_Silent_p.S550S	p.S550S			Q9HCL2	GPAT1_HUMAN		Epithelial(162;0.0306)|all cancers(201;0.123)	16	1847	-			550					Q5VW51|Q86TA3	Silent	SNP	ENST00000348367.4	37	c.1650C>T	CCDS7570.1																																																																																				0.458	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918		38	51	0	0	0	1	0	38	51					A	113920471	G	A	113920471	2	1	237	1	0	0	0	0	0	0	0	1	6588	1310	46	2		2	GPAM	10	113920471	Silent	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08		113920471	21614276	18	5108											
C10orf90	118611	broad.mit.edu	37	chr10	128193188	128193188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctggagaactctgtgcagGcaaaagatctctgatgccga	11	9	3	3			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr10:128193188G>A	ENST00000284694.7	-	3	701	c.581C>T	c.(580-582)gCc>gTc	p.A194V	C10orf90_ENST00000544758.1_Missense_Mutation_p.A291V|C10orf90_ENST00000392694.1_Missense_Mutation_p.A147V|C10orf90_ENST00000356858.3_Missense_Mutation_p.A147V|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000454341.1_Missense_Mutation_p.A194V	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	194	Required for interaction with HDAC1. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CTCTGTGCAGGCAAAAGATCT	0.612											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000284694.7																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(580-582)gCc>gTc		chromosome 10 open reading frame 90							60	66	64					10																	128193188		2203	4300	6503	SO:0001583	missense	118611							g.chr10:128193188G>A	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"fragile-site associated tumor suppressor"					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.581C>T	10.37:g.128193188G>A	ENSP00000284694:p.Ala194Val		OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1563	C10orf90_ENST00000356858.3_Missense_Mutation_p.A147V|C10orf90_ENST00000392694.1_Missense_Mutation_p.A147V|C10orf90_ENST00000544758.1_Missense_Mutation_p.A291V|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000454341.1_Missense_Mutation_p.A194V	p.A194V	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	3	701	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)	194					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	c.581C>T	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.932709	0.52866	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	T;T;T;T;T	0.23552	2.22;2.22;2.21;2.22;1.9	4.74	-4.35	0.03656	.	2.384410	0.01288	N	0.009928	T	0.18635	0.0447	L	0.36672	1.1	0.09310	N	1	P;P;P;B;B	0.43352	0.804;0.804;0.804;0.418;0.007	B;B;B;B;B	0.38225	0.268;0.268;0.194;0.173;0.005	T	0.37126	-0.9719	10	0.62326	D	0.03	2.1478	5.2111	0.15316	0.076:0.418:0.2943:0.2117	.	291;291;147;194;194	F5GZL2;B4DMQ6;Q5T024;Q96M02;Q96M02-2	.;.;.;CJ090_HUMAN;.	V	147;194;194;291;194;147;147	ENSP00000284694:A194V;ENSP00000398786:A194V;ENSP00000444369:A291V;ENSP00000405995:A194V;ENSP00000376459:A147V	ENSP00000284694:A194V	A	-	2	0	C10orf90	128183178	0.000000	0.05858	0.000000	0.03702	0.170000	0.22686	-0.445000	0.06845	-0.369000	0.08028	0.467000	0.42956	GCC		0.612	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		7	153	0	0	0	1	0	7	153					A	128193188	G	A	128193188	3	1	237	1	0	0	0	0	1	0	0	0	1623	1203	42	2	1546	2	C10orf90	10	128193188	Missense_Mutation	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08	14272717	128193188	7341559	19	5109											
SPRYD5	84767	broad.mit.edu	37	chr11	55659057	55659057	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgatatacaccatccccaaTtgctccttctcacctcctct	2	18	2	1			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr11:55659057T>C	ENST00000449290.2	+	7	1400	c.1308T>C	c.(1306-1308)aaT>aaC	p.N436N	TRIM51_ENST00000244891.3_Silent_p.N293N	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	436	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)										CCATCCCCAATTGCTCCTTCT	0.453																																						ENST00000449290.2																			0											c.(1306-1308)aaT>aaC		tripartite motif-containing 51							122	124	123					11																	55659057		2173	4219	6392	SO:0001819	synonymous_variant	84767					intracellular	zinc ion binding	g.chr11:55659057T>C	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.1308T>C	11.37:g.55659057T>C						TRIM51_ENST00000244891.3_Silent_p.N293N	p.N436N	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN			7	1400	+			436			B30.2/SPRY.		A6NMG2	Silent	SNP	ENST00000449290.2	37	c.1308T>C																																																																																					0.453	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		12	198	0	0	0	1	0	12	198					C	55659057	T	C	55659057	2	2	237	1	0	0	0	0	0	0	0	1	15110	1490	52	3		3	SPRYD5	11	55659057	Silent	SNP	T	TCGA-EL-A3T3-01A-11D-A22D-08		55659057	79347459	20	5110											
ZBTB3	79842	broad.mit.edu	37	chr11	62520401	62520401	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccacatcaagagatggcaGtggctccaatgaaactgctg	10	11	1	2	rs185887296		TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr11:62520401G>A	ENST00000394807.3	-	2	1011	c.886C>T	c.(886-888)Ctg>Ttg	p.L296L		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	296	Pro-rich.				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(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						AGAGATGGCAGTGGCTCCAAT	0.542													G|||	1	0.000199681	0	0	5008	,	,		21069	0.001		0	False		,,,				2504	0					ENST00000394807.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						c.(886-888)Ctg>Ttg		zinc finger and BTB domain containing 3							66	60	62					11																	62520401		2202	4299	6501	SO:0001819	synonymous_variant	79842				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:62520401G>A	AK027045	CCDS8034.1	11q12.3	2013-01-09				ENSG00000185670		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	22918	protein-coding gene	gene with protein product							Standard	NM_024784		Approved	FLJ23392	uc001nuz.3	Q9H5J0		ENST00000394807.3:c.886C>T	11.37:g.62520401G>A							p.L296L	NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN			2	1011	-			296			Pro-rich.			Silent	SNP	ENST00000394807.3	37	c.886C>T	CCDS8034.1																																																																																				0.542	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395342.1	NM_024784		3	88	0	0	0	1	0	3	88					A	62520401	G	A	62520401	2	1	237	1	0	0	0	0	0	0	0	1	17531	1020	36	2		2	ZBTB3	11	62520401	Silent	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08	6861344	62520401	72486115	21	5111											
UBASH3B	84959	broad.mit.edu	37	chr11	122659906	122659906	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccaatggagcagaccagCaccagcgagggttggatcta	12	11	2	1			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr11:122659906C>T	ENST00000284273.5	+	6	1245	c.870C>T	c.(868-870)agC>agT	p.S290S		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	290	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)		AGCAGACCAGCACCAGCGAGG	0.532																																						ENST00000284273.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26						c.(868-870)agC>agT		ubiquitin associated and SH3 domain containing B							182	177	179					11																	122659906		2202	4299	6501	SO:0001819	synonymous_variant	84959					cytoplasm|nucleus	protein tyrosine phosphatase activity	g.chr11:122659906C>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.870C>T	11.37:g.122659906C>T							p.S290S	NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)	6	1245	+		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)	290			SH3.		Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Silent	SNP	ENST00000284273.5	37	c.870C>T	CCDS31694.1																																																																																				0.532	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873		6	437	0	0	0	1	0	6	437					T	122659906	C	T	122659906	2	4	237	1	0	0	0	0	0	0	0	1	16837	709	25	2		2	UBASH3B	11	122659906	Silent	SNP	C	TCGA-EL-A3T3-01A-11D-A22D-08	60139505	122659906	12346610	22	5112											
TMEM225	338661	broad.mit.edu	37	chr11	123753862	123753862	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatcacagagcccaggttaCgtgacgtgtttggacttttt	10	8	1	2			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr11:123753862C>T	ENST00000375026.2	-	4	877	c.661G>A	c.(661-663)Gta>Ata	p.V221I		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	221					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						GCCCAGGTTACGTGACGTGTT	0.423																																						ENST00000375026.2																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						c.(661-663)Gta>Ata		transmembrane protein 225							172	158	163					11																	123753862		2202	4299	6501	SO:0001583	missense	338661					integral to membrane		g.chr11:123753862C>T	AY634366	CCDS31697.1	11q24.1	2014-06-13			ENSG00000204300	ENSG00000204300			32390	protein-coding gene	gene with protein product	"PMP22 claudin domain containing", "protein phosphatase 1, regulatory subunit 154"						Standard	XM_006718832		Approved	PMP22CD, PPP1R154	uc001pzi.3	Q6GV28	OTTHUMG00000165959	ENST00000375026.2:c.661G>A	11.37:g.123753862C>T	ENSP00000364166:p.Val221Ile						p.V221I	NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN			4	877	-			221						Missense_Mutation	SNP	ENST00000375026.2	37	c.661G>A	CCDS31697.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123100	0.56613	.	.	ENSG00000204300	ENST00000375026	T	0.35605	1.3	3.89	3.89	0.44902	.	0.000000	0.40908	D	0.000981	T	0.46210	0.1381	L	0.34521	1.04	0.22017	N	0.99942	D	0.89917	1.0	D	0.76575	0.988	T	0.21930	-1.0231	10	0.87932	D	0	-15.6406	11.6604	0.51343	0.0:1.0:0.0:0.0	.	221	Q6GV28	TM225_HUMAN	I	221	ENSP00000364166:V221I	ENSP00000364166:V221I	V	-	1	0	TMEM225	123259072	0.574000	0.26684	0.378000	0.26068	0.054000	0.15201	1.387000	0.34430	2.462000	0.83206	0.655000	0.94253	GTA		0.423	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387260.1	NM_001013743		35	63	0	0	0	1	0	35	63					T	123753862	C	T	123753862	3	4	237	1	0	0	0	0	1	0	0	0	16144	536	19	1	20	1	TMEM225	11	123753862	Missense_Mutation	SNP	C	TCGA-EL-A3T3-01A-11D-A22D-08	1093956	123753862	11252654	23	5113											
CD163	9332	broad.mit.edu	37	chr12	7640590	7640590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagcttccagagagaagtccGaatcacagatggagccccac	10	13	1	3			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr12:7640590G>A	ENST00000359156.4	-	7	1716	c.1514C>T	c.(1513-1515)tCg>tTg	p.S505L	CD163_ENST00000396620.3_Missense_Mutation_p.S505L|CD163_ENST00000541972.1_Missense_Mutation_p.S493L|CD163_ENST00000432237.2_Missense_Mutation_p.S505L|CD163_ENST00000539632.1_5'Flank	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	505	SRCR 5. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.S505*(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	AGAGAAGTCCGAATCACAGAT	0.537																																						ENST00000359156.4																			1	Substitution - Nonsense(1)	p.S505*(1)	lung(1)	breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(1513-1515)tCg>tTg		CD163 molecule							75	64	68					12																	7640590		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7640590G>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1514C>T	12.37:g.7640590G>A	ENSP00000352071:p.Ser505Leu					CD163_ENST00000432237.2_Missense_Mutation_p.S505L|CD163_ENST00000396620.3_Missense_Mutation_p.S505L|CD163_ENST00000541972.1_Missense_Mutation_p.S493L	p.S505L	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			7	1716	-			505			SRCR 5.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.1514C>T	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.739029	0.30774	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.33	3.39	0.38822	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.547984	0.19113	N	0.122394	T	0.31358	0.0794	L	0.45051	1.395	0.09310	N	1	D;P;D	0.59357	0.985;0.951;0.969	P;B;P	0.50270	0.636;0.396;0.553	T	0.07214	-1.0784	10	0.26408	T	0.33	.	9.4667	0.38817	0.0844:0.1453:0.7702:0.0	.	505;505;505	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	L	505;493;505;505	ENSP00000352071:S505L;ENSP00000444071:S493L;ENSP00000379863:S505L;ENSP00000403885:S505L	ENSP00000352071:S505L	S	-	2	0	CD163	7531857	0.003000	0.15002	0.966000	0.40874	0.932000	0.56968	1.496000	0.35638	1.388000	0.46506	0.655000	0.94253	TCG		0.537	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		3	80	0	0	0	1	0	3	80					A	7640590	G	A	7640590	3	1	237	1	0	0	0	0	1	0	0	0	2967	1059	37	1	1996	1	CD163	12	7640590	Missense_Mutation	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08		7640590	126211305	24	5114											
LATS2	26524	broad.mit.edu	37	chr13	21562482	21562483	+	In_Frame_Ins	INS	-	-	GGGGCG													cgtccaagccctccgcagccINSggggcgggggcgggggcggg					rs56252009|rs550642106	byFrequency	TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr13:21562482_21562483insGGGGCG	ENST00000382592.4	-	4	1841_1842	c.1436_1437insCGCCCC	c.(1435-1437)ccg>ccCGCCCCg	p.479_479P>PAP	LATS2_ENST00000542899.1_In_Frame_Ins_p.479_479P>PAP|LATS2_ENST00000472754.1_5'Flank	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2									p.P473_A480delPAPAPAPA(2)|p.P479_A480insGR(1)		breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CCTCCGCAgccggggcgggggc	0.787														1274	0.254393	0.1566	0.3429	5008	,	,		6446	0.2133		0.338	False		,,,				2504	0.2802					ENST00000382592.4																			3	Deletion - In frame(2)|Insertion - In frame(1)	p.P473_A480delPAPAPAPA(2)|p.P479_A480insGR(1)	breast(2)|pancreas(1)	breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45						c.(1435-1437)cgc>cCGCCCCgc		large tumor suppressor kinase 2				22,194		10,2,96						-10.2	0.0		dbSNP_119	2	119,543		56,7,268	no	coding	LATS2	NM_014572.2		66,9,364	A1A1,A1R,RR		17.9758,10.1852,16.0592				141,737				SO:0001652	inframe_insertion	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21562482_21562483insGGGGCG	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"LATS (large tumor suppressor, Drosophila) homolog 2", "LATS, large tumor suppressor, homolog 2 (Drosophila)"			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.1431_1436dupCGCCCC	13.37:g.21562483_21562488dupGGGGCG	ENSP00000372035:p.AlaPro479dup					LATS2_ENST00000542899.1_In_Frame_Ins_p.478_479insPP	p.478_479insPP	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	4	1841_1842	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	478						In_Frame_Ins	INS	ENST00000382592.4	37	c.1436_1437insCGCCCC	CCDS9294.1																																																																																				0.787	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			4	4						4	4	---	---	---	---	GGGGCG	21562483	-	GGGGCG	21562482	7	5	237	1	0	1	1	0	0	0	0	0	8647	639	23	0	1849	0	LATS2	13	21562482	In_Frame_Ins	INS	-	TCGA-EL-A3T3-01A-11D-A22D-08		21562482	93607396	25	5115											
LATS2	26524	broad.mit.edu	37	chr13	21562776	21562776	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctccaggcccggcttctgCagggagtcccggcgggccag	16	16	1	0			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr13:21562776C>A	ENST00000382592.4	-	4	1548	c.1143G>T	c.(1141-1143)ctG>ctT	p.L381L	LATS2_ENST00000542899.1_Silent_p.L381L|LATS2_ENST00000472754.1_5'Flank	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CCGGCTTCTGCAGGGAGTCCC	0.701																																						ENST00000382592.4																			0				breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45						c.(1141-1143)ctG>ctT		large tumor suppressor kinase 2							10	14	12					13																	21562776		2117	4107	6224	SO:0001819	synonymous_variant	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21562776C>A	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"LATS (large tumor suppressor, Drosophila) homolog 2", "LATS, large tumor suppressor, homolog 2 (Drosophila)"			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.1143G>T	13.37:g.21562776C>A						LATS2_ENST00000542899.1_Silent_p.L381L	p.L381L	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	4	1548	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	381						Silent	SNP	ENST00000382592.4	37	c.1143G>T	CCDS9294.1																																																																																				0.701	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			3	39	1	0	1	1	1	3	39					A	21562776	C	A	21562776	2	1	237	1	0	0	0	0	0	0	0	1	8647	697	25	4		4	LATS2	13	21562776	Silent	SNP	C	TCGA-EL-A3T3-01A-11D-A22D-08	294	21562776	93607102	26	5116											
FAM70B	348013	broad.mit.edu	37	chr13	114469169	114469169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcctcatagtcaccgtcgGgctggctgccaccaccagga	11	16	2	0			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr13:114469169G>A	ENST00000375353.3	+	2	155	c.128G>A	c.(127-129)gGg>gAg	p.G43E		NM_182614.2	NP_872420.1	Q8WV15	T255B_HUMAN	transmembrane protein 255B	43						integral component of membrane (GO:0016021)											GTCACCGTCGGGCTGGCTGCC	0.652																																						ENST00000375353.3																			0											c.(127-129)gGg>gAg		transmembrane protein 255B							119	91	100					13																	114469169		2203	4300	6503	SO:0001583	missense	348013							g.chr13:114469169G>A	BC018995	CCDS45071.1	13q34	2012-11-30	2012-11-30	2012-11-30	ENSG00000184497	ENSG00000184497			28297	protein-coding gene	gene with protein product			"family with sequence similarity 70, member B"	FAM70B		12477932	Standard	NM_182614		Approved	MGC20579	uc001vuh.3	Q8WV15	OTTHUMG00000017398	ENST00000375353.3:c.128G>A	13.37:g.114469169G>A	ENSP00000364502:p.Gly43Glu						p.G43E	NM_182614.2	NP_872420.1					2	155	+									Missense_Mutation	SNP	ENST00000375353.3	37	c.128G>A	CCDS45071.1	.	.	.	.	.	.	.	.	.	.	g	16.98	3.271278	0.59649	.	.	ENSG00000184497	ENST00000375353	T	0.63913	-0.07	4.42	4.42	0.53409	.	.	.	.	.	T	0.80454	0.4626	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84433	0.0578	9	0.87932	D	0	-18.8846	15.8064	0.78517	0.0:0.0:1.0:0.0	.	43;43	B4DIK8;Q8WV15	.;FA70B_HUMAN	E	43	ENSP00000364502:G43E	ENSP00000364502:G43E	G	+	2	0	FAM70B	113644774	1.000000	0.71417	0.945000	0.38365	0.058000	0.15608	8.119000	0.89579	2.008000	0.58898	0.313000	0.20887	GGG		0.652	TMEM255B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045953.4	NM_182614		68	85	0	0	0	1	0	68	85					A	114469169	G	A	114469169	3	1	237	1	0	0	0	0	1	0	0	0	5606	1232	43	2	134	2	FAM70B	13	114469169	Missense_Mutation	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08	92906393	114469169	700709	27	5117											
RASGRP1	10125	broad.mit.edu	37	chr15	38810529	38810529	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaggcggcaatgtaactccTcacccttagctttcaccagt	7	14	3	0			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr15:38810529T>G	ENST00000310803.5	-	5	662	c.485A>C	c.(484-486)gAg>gCg	p.E162A	RASGRP1_ENST00000561180.1_Missense_Mutation_p.E213A|RASGRP1_ENST00000450598.2_Missense_Mutation_p.E162A|RASGRP1_ENST00000559830.1_Missense_Mutation_p.E162A|RASGRP1_ENST00000539159.1_Missense_Mutation_p.E114A|RASGRP1_ENST00000558164.1_Missense_Mutation_p.E162A	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	162	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		ATGTAACTCCTCACCCTTAGC	0.443																																						ENST00000310803.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(484-486)gAg>gCg		RAS guanyl releasing protein 1 (calcium and DAG-regulated)							112	105	107					15																	38810529		1954	4148	6102	SO:0001583	missense	10125				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	g.chr15:38810529T>G	AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"EF-hand domain containing"	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.485A>C	15.37:g.38810529T>G	ENSP00000310244:p.Glu162Ala					RASGRP1_ENST00000559830.1_Missense_Mutation_p.E162A|RASGRP1_ENST00000450598.2_Missense_Mutation_p.E162A|RASGRP1_ENST00000539159.1_Missense_Mutation_p.E114A|RASGRP1_ENST00000561180.1_Missense_Mutation_p.E213A|RASGRP1_ENST00000558164.1_Missense_Mutation_p.E162A	p.E162A	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)	5	662	-		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)	162			N-terminal Ras-GEF.		Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Missense_Mutation	SNP	ENST00000310803.5	37	c.485A>C	CCDS45222.1	.	.	.	.	.	.	.	.	.	.	T	13.29	2.193608	0.38707	.	.	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000415523;ENST00000431814;ENST00000539159;ENST00000414708;ENST00000541438	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.03	5.03	0.67393	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (2);	0.114035	0.64402	D	0.000012	T	0.30293	0.0760	L	0.54323	1.7	0.52099	D	0.999941	B;B;B;B	0.23650	0.089;0.002;0.004;0.003	B;B;B;B	0.20577	0.03;0.002;0.002;0.009	T	0.05733	-1.0867	10	0.27785	T	0.31	-17.2498	14.9193	0.70822	0.0:0.0:0.0:1.0	.	162;162;162;162	C9JM27;C9JCE5;O95267;O95267-2	.;.;GRP1_HUMAN;.	A	162;162;162;162;114;162;162	ENSP00000310244:E162A;ENSP00000388540:E162A;ENSP00000444762:E114A;ENSP00000413105:E162A	ENSP00000310244:E162A	E	-	2	0	RASGRP1	36597821	1.000000	0.71417	0.986000	0.45419	0.998000	0.95712	5.548000	0.67255	2.128000	0.65567	0.460000	0.39030	GAG		0.443	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739		17	13	0	0	0	1	0	17	13					G	38810529	T	G	38810529	3	3	237	1	0	0	0	0	1	0	0	0	13074	1551	54	5	1960	5	RASGRP1	15	38810529	Missense_Mutation	SNP	T	TCGA-EL-A3T3-01A-11D-A22D-08		38810529	63720863	28	5118											
C15orf27	123591	broad.mit.edu	37	chr15	76467946	76467946	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggagatggttatccagcaGtacgagaaggccaaggtcat	13	7	1	2			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr15:76467946G>A	ENST00000388942.3	+	8	975	c.699G>A	c.(697-699)caG>caA	p.Q233Q	RP11-593F23.1_ENST00000558424.1_RNA	NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	233					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TTATCCAGCAGTACGAGAAGG	0.552																																						ENST00000388942.3																			0				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						c.(697-699)caG>caA		chromosome 15 open reading frame 27							132	109	117					15																	76467946		2197	4294	6491	SO:0001819	synonymous_variant	123591					integral to membrane		g.chr15:76467946G>A	AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.699G>A	15.37:g.76467946G>A						RP11-593F23.1_ENST00000558424.1_RNA	p.Q233Q	NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN			8	975	+			233					Q8N993|Q96LL5	Silent	SNP	ENST00000388942.3	37	c.699G>A	CCDS10289.2																																																																																				0.552	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286637.2	NM_152335		3	102	0	0	0	1	0	3	102					A	76467946	G	A	76467946	2	1	237	1	0	0	0	0	0	0	0	1	1788	1020	36	2		2	C15orf27	15	76467946	Silent	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08	37657417	76467946	26063446	29	5119											
ITGAL	3683	broad.mit.edu	37	chr16	30507512	30507512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctctgacagacatcaacgGcgatgggctggtagacgtgg	15	9	2	3			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr16:30507512G>A	ENST00000356798.6	+	14	1778	c.1598G>A	c.(1597-1599)gGc>gAc	p.G533D	ITGAL_ENST00000358164.5_Missense_Mutation_p.G450D|ITGAL_ENST00000568012.1_3'UTR|ITGAL_ENST00000433423.2_Intron|RP11-297C4.1_ENST00000563751.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	533					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	GACATCAACGGCGATGGGCTG	0.617																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(1597-1599)gGc>gAc		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						88	97	94					16																	30507512		2197	4300	6497	SO:0001583	missense	0				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30507512G>A		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"CD molecules", "Integrins"	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.1598G>A	16.37:g.30507512G>A	ENSP00000349252:p.Gly533Asp					ITGAL_ENST00000358164.5_Missense_Mutation_p.G450D|ITGAL_ENST00000568012.1_3'UTR|ITGAL_ENST00000433423.2_Intron	p.G533D	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			14	1778	+			533					O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	c.1598G>A	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.778854	0.70107	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	D;D	0.86865	-2.18;-2.18	5.94	4.99	0.66335	.	0.102074	0.44097	D	0.000487	D	0.93403	0.7896	M	0.85299	2.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93887	0.7176	10	0.66056	D	0.02	.	12.1137	0.53854	0.0798:0.0:0.9202:0.0	.	450;533	Q96HB1;P20701	.;ITAL_HUMAN	D	533;450	ENSP00000349252:G533D;ENSP00000350886:G450D	ENSP00000349252:G533D	G	+	2	0	ITGAL	30415013	1.000000	0.71417	0.878000	0.34440	0.369000	0.29798	4.742000	0.62103	1.522000	0.49001	0.563000	0.77884	GGC		0.617	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			6	243	0	0	0	1	0	6	243					A	30507512	G	A	30507512	3	1	237	1	0	0	0	0	1	0	0	0	7886	1203	42	2	1652	2	ITGAL	16	30507512	Missense_Mutation	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08		30507512	59847241	30	5120											
ERBB2	2064	broad.mit.edu	37	chr17	37882044	37882044	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatccctgacctgctggaaaAgggggagcggctgccccagc	15	13	0	1			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr17:37882044A>G	ENST00000269571.5	+	23	2969	c.2810A>G	c.(2809-2811)aAg>aGg	p.K937R	ERBB2_ENST00000541774.1_Missense_Mutation_p.K922R|ERBB2_ENST00000584450.1_Missense_Mutation_p.K937R|ERBB2_ENST00000445658.2_Missense_Mutation_p.K661R|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584601.1_Missense_Mutation_p.K907R|ERBB2_ENST00000406381.2_Missense_Mutation_p.K907R|ERBB2_ENST00000540147.1_Missense_Mutation_p.K907R			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	937	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CTGCTGGAAAAGGGGGAGCGG	0.592		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																												ENST00000406381.2		1		Dom	yes		17	17q21.1	2064	"A, Mis, O"	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"			E			"breast, ovarian, other tumour types, NSCLC, gastric"		0				NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(2719-2721)aAg>aGg		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						69	64	66					17																	37882044		2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37882044A>G	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2810A>G	17.37:g.37882044A>G	ENSP00000269571:p.Lys937Arg	TCGA GBM(5;<1E-08)				ERBB2_ENST00000269571.5_Missense_Mutation_p.K937R|ERBB2_ENST00000584601.1_Missense_Mutation_p.K907R|ERBB2_ENST00000584450.1_Missense_Mutation_p.K937R|ERBB2_ENST00000445658.2_Missense_Mutation_p.K661R|ERBB2_ENST00000541774.1_Missense_Mutation_p.K922R|ERBB2_ENST00000540147.1_Missense_Mutation_p.K907R	p.K907R	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	25	3230	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	937			Protein kinase.		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.2720A>G	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	A	13.29	2.193682	0.38707	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64	5.53	5.53	0.82687	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.74504	0.3725	N	0.21508	0.67	0.80722	D	1	B;P;B	0.41910	0.242;0.764;0.242	B;B;B	0.38655	0.172;0.278;0.172	T	0.78969	-0.1994	9	0.72032	D	0.01	.	15.33	0.74200	1.0:0.0:0.0:0.0	.	661;922;937	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	R	907;922;661;937;907	ENSP00000385185:K907R;ENSP00000446466:K922R;ENSP00000404047:K661R;ENSP00000269571:K937R;ENSP00000443562:K907R	ENSP00000269571:K937R	K	+	2	0	ERBB2	35135570	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.819000	0.62664	2.099000	0.63709	0.460000	0.39030	AAG		0.592	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			4	117	0	0	0	1	0	4	117					G	37882044	A	G	37882044	3	3	237	1	0	0	0	0	1	0	0	0	5206	72	3	3	2900	3	ERBB2	17	37882044	Missense_Mutation	SNP	A	TCGA-EL-A3T3-01A-11D-A22D-08		37882044	43313166	31	5121											
BPTF	2186	broad.mit.edu	37	chr17	65871028	65871028	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acaagaatgagactgagaatGactctaaagatgctgagaaa	10	5	1	6			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr17:65871028G>C	ENST00000321892.4	+	4	1817	c.1756G>C	c.(1756-1758)Gac>Cac	p.D586H	BPTF_ENST00000335221.5_Missense_Mutation_p.D586H|BPTF_ENST00000306378.6_Missense_Mutation_p.D586H|BPTF_ENST00000424123.3_Missense_Mutation_p.D447H			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	586					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GACTGAGAATGACTCTAAAGA	0.373																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(1756-1758)Gac>Cac		bromodomain PHD finger transcription factor							108	112	110					17																	65871028		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65871028G>C	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.1756G>C	17.37:g.65871028G>C	ENSP00000315454:p.Asp586His					BPTF_ENST00000335221.5_Missense_Mutation_p.D586H|BPTF_ENST00000306378.6_Missense_Mutation_p.D586H|BPTF_ENST00000424123.3_Missense_Mutation_p.D447H	p.D586H			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		4	1817	+	all_cancers(12;6e-11)		586					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.1756G>C		.	.	.	.	.	.	.	.	.	.	G	2.854	-0.237615	0.05944	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;T;T	0.62788	0.02;-0.0;0.01	4.79	2.4	0.29515	.	.	.	.	.	T	0.49949	0.1587	N	0.22421	0.69	0.09310	N	1	B;B;P	0.44946	0.232;0.343;0.846	B;B;P	0.45610	0.134;0.281;0.487	T	0.37126	-0.9719	9	0.62326	D	0.03	-2.0596	6.5728	0.22549	0.5498:0.0:0.4502:0.0	.	586;586;586	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	H	491;586;586;586;447	ENSP00000307208:D586H;ENSP00000334351:D586H;ENSP00000315454:D586H	ENSP00000307208:D586H	D	+	1	0	BPTF	63301490	0.044000	0.20184	0.005000	0.12908	0.631000	0.37964	0.233000	0.17911	0.233000	0.21120	0.591000	0.81541	GAC		0.373	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		4	48	0	0	0	1	0	4	48					C	65871028	G	C	65871028	3	2	237	1	0	0	0	0	1	0	0	0	1495	1290	45	4	1770	4	BPTF	17	65871028	Missense_Mutation	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08	27988984	65871028	15324182	32	5122											
WDR7	23335	broad.mit.edu	37	chr18	54362346	54362346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacgacttgtttgtggtcGtgaagatggaagcatagtta	14	4	0	2			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr18:54362346G>A	ENST00000254442.3	+	11	1485	c.1274G>A	c.(1273-1275)cGt>cAt	p.R425H	WDR7_ENST00000357574.3_Missense_Mutation_p.R425H|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	425					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GTTTGTGGTCGTGAAGATGGA	0.448																																						ENST00000254442.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78						c.(1273-1275)cGt>cAt		WD repeat domain 7							131	115	121					18																	54362346		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54362346G>A	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"WD repeat domain containing"	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.1274G>A	18.37:g.54362346G>A	ENSP00000254442:p.Arg425His					WDR7_ENST00000357574.3_Missense_Mutation_p.R425H|WDR7_ENST00000589935.1_Intron	p.R425H	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	11	1485	+			425					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.1274G>A	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	G	34	5.310149	0.95629	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	D;D	0.94280	-3.39;-3.39	5.38	5.38	0.77491	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	D	0.95950	0.8681	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.967;0.991	D	0.93562	0.6896	10	0.13470	T	0.59	.	19.0834	0.93192	0.0:0.0:1.0:0.0	.	425;425	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	H	425	ENSP00000254442:R425H;ENSP00000350187:R425H	ENSP00000254442:R425H	R	+	2	0	WDR7	52513344	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.473000	0.97714	2.680000	0.91292	0.585000	0.79938	CGT		0.448	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			3	104	0	0	0	1	0	3	104					A	54362346	G	A	54362346	3	1	237	1	0	0	0	0	1	0	0	0	17317	1145	40	1	1312	1	WDR7	18	54362346	Missense_Mutation	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08		54362346	23714902	33	5123											
LPHN1	22859	broad.mit.edu	37	chr19	14261877	14261877	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccggggggtgcgggagggggTgggggcagggcctcactggg	26	8	1	0			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr19:14261877T>G	ENST00000340736.6	-	24	4530	c.4233A>C	c.(4231-4233)ccA>ccC	p.P1411P	CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Silent_p.P1406P	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1411	Poly-Pro.				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						CGGGAGGGGGTGGGGGCAGGG	0.731																																						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.(4231-4233)ccA>ccC		latrophilin 1							2	2	2					19																	14261877		1492	3187	4679	SO:0001819	synonymous_variant	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14261877T>G	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.4233A>C	19.37:g.14261877T>G						CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Silent_p.P1406P|CTB-55O6.12_ENST00000588658.1_RNA	p.P1411P	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN			24	4530	-			1411			Poly-Pro.		Q96IE7|Q9BU07|Q9HAR3	Silent	SNP	ENST00000340736.6	37	c.4233A>C	CCDS32928.1																																																																																				0.731	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		4	6	0	0	0	1	0	4	6					G	14261877	T	G	14261877	2	3	237	1	0	0	0	0	0	0	0	1	8915	1683	59	5		5	LPHN1	19	14261877	Silent	SNP	T	TCGA-EL-A3T3-01A-11D-A22D-08		14261877	44867106	34	5124											
NPHS1	4868	broad.mit.edu	37	chr19	36334403	36334403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagttgaacatgcccgggaGgatgggattggcatcgacag	15	9	0	1			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr19:36334403G>A	ENST00000378910.5	-	17	2304	c.2305C>T	c.(2305-2307)Ctc>Ttc	p.L769F	NPHS1_ENST00000353632.6_Missense_Mutation_p.L769F	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	769	Ig-like C2-type 7.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATGCCCGGGAGGATGGGATTG	0.572																																						ENST00000378910.5																			0				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(2305-2307)Ctc>Ttc		nephrosis 1, congenital, Finnish type (nephrin)							141	130	134					19																	36334403		2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36334403G>A		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.2305C>T	19.37:g.36334403G>A	ENSP00000368190:p.Leu769Phe					NPHS1_ENST00000353632.6_Missense_Mutation_p.L769F	p.L769F	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		17	2304	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		769			Ig-like C2-type 7.		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.2305C>T	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958926	0.53400	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.79033	-1.23;-1.23	5.04	5.04	0.67666	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.512331	0.19615	N	0.110043	D	0.83248	0.5213	L	0.46157	1.445	0.27239	N	0.959203	D	0.65815	0.995	D	0.65773	0.938	T	0.76572	-0.2910	10	0.56958	D	0.05	-19.9369	14.3119	0.66422	0.0:0.0:1.0:0.0	.	769	O60500	NPHN_HUMAN	F	769	ENSP00000368190:L769F;ENSP00000343634:L769F	ENSP00000343634:L769F	L	-	1	0	NPHS1	41026243	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	3.451000	0.52964	2.532000	0.85374	0.456000	0.33151	CTC		0.572	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			5	357	0	0	0	1	0	5	357					A	36334403	G	A	36334403	3	1	237	1	0	0	0	0	1	0	0	0	10582	1000	35	2	1472	2	NPHS1	19	36334403	Missense_Mutation	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08	22072526	36334403	22794580	35	5125											
DYRK1B	9149	broad.mit.edu	37	chr19	40318234	40318234	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatgtcaatggccaggtcGtagggtgtgcccaggagcac	14	11	1	0	rs78838108	byFrequency	TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr19:40318234G>A	ENST00000593685.1	-	7	1338	c.870C>T	c.(868-870)taC>taT	p.Y290Y	DYRK1B_ENST00000430012.2_Silent_p.Y290Y|DYRK1B_ENST00000597639.1_Silent_p.Y290Y|DYRK1B_ENST00000323039.5_Silent_p.Y290Y|DYRK1B_ENST00000348817.3_Silent_p.Y290Y			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	290	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			TGGCCAGGTCGTAGGGTGTGC	0.597													G|||	5	0.000998403	0.0038	0	5008	,	,		17848	0		0	False		,,,				2504	0					ENST00000593685.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(868-870)taC>taT		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B		G	,,	5,4401	11.4+/-27.6	0,5,2198	74	67	69		870,870,870	-7.1	0.9	19	dbSNP_131	69	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	DYRK1B	NM_004714.1,NM_006483.1,NM_006484.1	,,	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	,,	290/630,290/590,290/602	40318234	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40318234G>A	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"minibrain-related kinase"	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.870C>T	19.37:g.40318234G>A						DYRK1B_ENST00000430012.2_Silent_p.Y290Y|DYRK1B_ENST00000323039.5_Silent_p.Y290Y|DYRK1B_ENST00000597639.1_Silent_p.Y290Y|DYRK1B_ENST00000348817.3_Silent_p.Y290Y	p.Y290Y			Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		7	1338	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		290			Protein kinase.		O75258|O75788|O75789	Silent	SNP	ENST00000593685.1	37	c.870C>T	CCDS12543.1																																																																																				0.597	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		3	116	0	0	0	1	0	3	116					A	40318234	G	A	40318234	2	1	237	1	0	0	0	0	0	0	0	1	4855	1140	40	1		1	DYRK1B	19	40318234	Silent	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08	3983831	40318234	18810749	36	5126											
ZC3H4	23211	broad.mit.edu	37	chr19	47572401	47572403	+	In_Frame_Del	DEL	CTC	CTC	-													tcagccagcctcctcgctctCtcctcctcctcctgctgctt							TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr19:47572401_47572403delCTC	ENST00000253048.5	-	14	2381_2383	c.2344_2346delGAG	c.(2344-2346)gagdel	p.E782del	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	782							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCCTCGCTCTCTCCTCCTCCTCC	0.7																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(2344-2346)del		zinc finger CCCH-type containing 4																																				SO:0001651	inframe_deletion	23211						nucleic acid binding|zinc ion binding	g.chr19:47572401_47572403delCTC	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2344_2346delGAG	19.37:g.47572410_47572412delCTC	ENSP00000253048:p.Glu782del					ZC3H4_ENST00000594019.1_Intron	p.E782del	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	14	2381_2383	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	782					Q9Y420	In_Frame_Del	DEL	ENST00000253048.5	37	c.2344_2346delGAG	CCDS42582.1																																																																																				0.7	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			8	253						8	253	---	---	---	---	-	47572403	CTC	-	47572401	7	5	237	1	0	1	0	1	0	0	0	0	17567	912	32	0	1573	0	ZC3H4	19	47572401	In_Frame_Del	DEL	CTC	TCGA-EL-A3T3-01A-11D-A22D-08	7254167	47572401	11556582	37	5127											
SLC24A3	57419	broad.mit.edu	37	chr20	19677526	19677526	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggaccagcgtgcctgactGcatggccagcctcattgtgg	14	12	1	1			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr20:19677526G>T	ENST00000328041.6	+	14	1774	c.1577G>T	c.(1576-1578)tGc>tTc	p.C526F	RP4-718D20.3_ENST00000609846.1_RNA|RP4-718D20.3_ENST00000593770.1_RNA|RP4-718D20.3_ENST00000609610.1_RNA|RP4-718D20.3_ENST00000608476.1_RNA|RP4-718D20.3_ENST00000435992.2_RNA|RP4-718D20.3_ENST00000598694.1_RNA|RP4-718D20.3_ENST00000600889.1_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	526					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GTGCCTGACTGCATGGCCAGC	0.597																																						ENST00000328041.6																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1576-1578)tGc>tTc		solute carrier family 24 (sodium/potassium/calcium exchanger), member 3							89	73	79					20																	19677526		2203	4300	6503	SO:0001583	missense	57419					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr20:19677526G>T	AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"Solute carriers"	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.1577G>T	20.37:g.19677526G>T	ENSP00000333519:p.Cys526Phe						p.C526F	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN			14	1774	+			526					B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Missense_Mutation	SNP	ENST00000328041.6	37	c.1577G>T	CCDS13140.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.666702	0.88251	.	.	ENSG00000185052	ENST00000328041	T	0.61859	0.07	5.7	5.7	0.88788	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	T	0.66886	0.2835	L	0.31207	0.915	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.63319	-0.6664	9	.	.	.	.	18.6103	0.91283	0.0:0.0:1.0:0.0	.	526	Q9HC58	NCKX3_HUMAN	F	526	ENSP00000333519:C526F	.	C	+	2	0	SLC24A3	19625526	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.830000	0.99415	2.695000	0.91970	0.561000	0.74099	TGC		0.597	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	NM_020689		5	126	1	0	5.9392e-07	1	6.05342e-07	5	126					T	19677526	G	T	19677526	3	4	237	1	0	0	0	0	1	0	0	0	14467	1319	46	4	1631	4	SLC24A3	20	19677526	Missense_Mutation	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08		19677526	43347994	38	5128											
CDH22	64405	broad.mit.edu	37	chr20	44815233	44815233	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttggaggctcaccttggaTgtcaagcagagagaaatgag	14	6	2	3			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr20:44815233T>C	ENST00000372262.3	-	9	2057	c.1657A>G	c.(1657-1659)Atc>Gtc	p.I553V	CDH22_ENST00000537909.1_Missense_Mutation_p.I553V	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	553	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TCACCTTGGATGTCAAGCAGA	0.592																																						ENST00000372262.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44						c.(1657-1659)Atc>Gtc		cadherin 22, type 2							86	82	84					20																	44815233		2203	4300	6503	SO:0001583	missense	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44815233T>C	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"Cadherins / Major cadherins"	13251	protein-coding gene	gene with protein product		609920	"cadherin-like 22"	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1657A>G	20.37:g.44815233T>C	ENSP00000361336:p.Ile553Val					CDH22_ENST00000537909.1_Missense_Mutation_p.I553V	p.I553V	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN			9	2057	-		Myeloproliferative disorder(115;0.0122)	553			Cadherin 5.		B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	c.1657A>G	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	T	11.84	1.758834	0.31137	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.58506	0.33;0.33	4.42	4.42	0.53409	Cadherin (4);Cadherin-like (1);	0.143219	0.46145	N	0.000314	T	0.27731	0.0682	N	0.02158	-0.66	0.24435	N	0.994557	B	0.02656	0.0	B	0.06405	0.002	T	0.10965	-1.0607	10	0.44086	T	0.13	.	7.0009	0.24809	0.0:0.1855:0.0:0.8145	.	553	Q9UJ99	CAD22_HUMAN	V	553	ENSP00000361336:I553V;ENSP00000437790:I553V	ENSP00000361336:I553V	I	-	1	0	CDH22	44248640	0.898000	0.30612	1.000000	0.80357	0.972000	0.66771	0.652000	0.24888	1.628000	0.50416	0.368000	0.22195	ATC		0.592	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		5	132	0	0	0	1	0	5	132					C	44815233	T	C	44815233	3	2	237	1	0	0	0	0	1	0	0	0	3107	1464	51	3	841	3	CDH22	20	44815233	Missense_Mutation	SNP	T	TCGA-EL-A3T3-01A-11D-A22D-08	25137707	44815233	18210287	39	5129											
DIDO1	11083	broad.mit.edu	37	chr20	61542301	61542301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgggacacaaccccctgatCgttctcgggctcctgcttac	9	16	1	1			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr20:61542301C>T	ENST00000266070.4	-	3	989	c.664G>A	c.(664-666)Gat>Aat	p.D222N	DIDO1_ENST00000395343.1_Missense_Mutation_p.D222N|DIDO1_ENST00000395340.1_Missense_Mutation_p.D222N|DIDO1_ENST00000266071.5_Missense_Mutation_p.D222N|DIDO1_ENST00000370368.1_Missense_Mutation_p.D222N|DIDO1_ENST00000354665.4_Missense_Mutation_p.D222N|DIDO1_ENST00000370366.1_Missense_Mutation_p.D222N|DIDO1_ENST00000370371.4_Missense_Mutation_p.D222N|DIDO1_ENST00000395335.2_Missense_Mutation_p.D222N	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	222					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ACCCCCTGATCGTTCTCGGGC	0.622																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(664-666)Gat>Aat		death inducer-obliterator 1							82	86	85					20																	61542301		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61542301C>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.664G>A	20.37:g.61542301C>T	ENSP00000266070:p.Asp222Asn					DIDO1_ENST00000266071.5_Missense_Mutation_p.D222N|DIDO1_ENST00000395343.1_Missense_Mutation_p.D222N|DIDO1_ENST00000395335.2_Missense_Mutation_p.D222N|DIDO1_ENST00000370366.1_Missense_Mutation_p.D222N|DIDO1_ENST00000370368.1_Missense_Mutation_p.D222N|DIDO1_ENST00000370371.4_Missense_Mutation_p.D222N|DIDO1_ENST00000354665.4_Missense_Mutation_p.D222N|DIDO1_ENST00000395340.1_Missense_Mutation_p.D222N	p.D222N	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			3	989	-	Breast(26;5.68e-08)		222					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.664G>A	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.501547	0.26861	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.17854	3.39;3.39;2.76;2.76;2.25;2.25;2.25;2.26;2.26	5.5	3.55	0.40652	.	0.973173	0.08356	U	0.958419	T	0.10594	0.0259	L	0.51422	1.61	0.09310	N	1	B;P;P;P	0.44006	0.145;0.813;0.813;0.824	B;B;B;B	0.22386	0.024;0.039;0.039;0.017	T	0.24764	-1.0151	10	0.14656	T	0.56	-0.4946	5.6085	0.17392	0.0:0.6236:0.1431:0.2333	.	222;222;222;222	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	N	222	ENSP00000266070:D222N;ENSP00000378752:D222N;ENSP00000378749:D222N;ENSP00000378744:D222N;ENSP00000359397:D222N;ENSP00000359394:D222N;ENSP00000346692:D222N;ENSP00000359391:D222N;ENSP00000266071:D222N	ENSP00000266070:D222N	D	-	1	0	DIDO1	61012746	0.012000	0.17670	0.028000	0.17463	0.126000	0.20510	0.505000	0.22642	0.664000	0.31047	0.561000	0.74099	GAT		0.622	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		4	72	0	0	0	1	0	4	72					T	61542301	C	T	61542301	3	4	237	1	0	0	0	0	1	0	0	0	4522	884	31	1	6244	1	DIDO1	20	61542301	Missense_Mutation	SNP	C	TCGA-EL-A3T3-01A-11D-A22D-08	16727068	61542301	1483219	40	5130											
FAM47C	442444	broad.mit.edu	37	chrX	37027156	37027156	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagtgtcccatctccgcccaCagcctcccaagactcaggtg	9	17	2	1	rs368685662		TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chrX:37027156C>G	ENST00000358047.3	+	1	725	c.673C>G	c.(673-675)Cag>Gag	p.Q225E		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	225										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCTCCGCCCACAGCCTCCCAA	0.647																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(673-675)Cag>Gag		family with sequence similarity 47, member C							41	41	41					X																	37027156		2202	4298	6500	SO:0001583	missense	442444							g.chrX:37027156C>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.673C>G	X.37:g.37027156C>G	ENSP00000367913:p.Gln225Glu						p.Q225E	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	725	+			225					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.673C>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.683783	0.00101	.	.	ENSG00000198173	ENST00000358047	T	0.12672	2.66	0.96	0.96	0.19631	.	.	.	.	.	T	0.01870	0.0059	N	0.00114	-2.085	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37337	-0.9710	9	0.02654	T	1	.	2.8694	0.05611	0.2407:0.2933:0.466:0.0	.	225	Q5HY64	FA47C_HUMAN	E	225	ENSP00000367913:Q225E	ENSP00000367913:Q225E	Q	+	1	0	FAM47C	36937077	0.000000	0.05858	0.016000	0.15963	0.016000	0.09150	-3.060000	0.00624	-1.049000	0.03234	-1.043000	0.02367	CAG		0.647	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		5	135	0	0	0	1	0	5	135					G	37027156	C	G	37027156	3	3	237	1	0	0	0	0	1	0	0	0	5571	479	17	4	675	4	FAM47C	23	37027156	Missense_Mutation	SNP	C	TCGA-EL-A3T3-01A-11D-A22D-08		37027156	118243404	41	5131											
EDA	1896	broad.mit.edu	37	chrX	69253267	69253267	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatctttcaggtggagtgctCaatgactggtctcgcatcac	11	10	5	1			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chrX:69253267C>T	ENST00000374552.4	+	7	1055	c.813C>T	c.(811-813)ctC>ctT	p.L271L	EDA_ENST00000374553.2_Silent_p.L271L|EDA_ENST00000524573.1_Silent_p.L268L	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	271					cell differentiation (GO:0030154)|cell-matrix adhesion (GO:0007160)|ectoderm development (GO:0007398)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|immune response (GO:0006955)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|salivary gland cavitation (GO:0060662)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	apical part of cell (GO:0045177)|collagen trimer (GO:0005581)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						GTGGAGTGCTCAATGACTGGT	0.478											OREG0019847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000374552.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						c.(811-813)ctC>ctT		ectodysplasin A							170	152	158					X																	69253267		2203	4300	6503	SO:0001819	synonymous_variant	1896				cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding	g.chrX:69253267C>T	U59227	CCDS14394.1, CCDS35318.1, CCDS35319.1, CCDS43966.1, CCDS35318.2, CCDS35319.2, CCDS55436.1	Xq12-q13.1	2013-05-22	2004-08-09	2004-08-12	ENSG00000158813	ENSG00000158813		"Tumor necrosis factor (ligand) superfamily"	3157	protein-coding gene	gene with protein product		300451	"ectodermal dysplasia 1, anhidrotic", "oligodontia 1"	ED1, EDA2, ODT1		8696334, 18657636, 16583127	Standard	NM_001005612		Approved	EDA1, XLHED, HED, XHED, ED1-A1, ED1-A2, EDA-A1, EDA-A2	uc004dxs.3	Q92838	OTTHUMG00000021764	ENST00000374552.4:c.813C>T	X.37:g.69253267C>T			OREG0019847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	EDA_ENST00000524573.1_Silent_p.L268L|EDA_ENST00000374553.2_Silent_p.L271L	p.L271L	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN			7	1055	+			271					A0AUZ2|A2A337|B7ZLU2|B7ZLU4|O75910|Q5JS00|Q5JUM7|Q9UP77|Q9Y6L0|Q9Y6L1|Q9Y6L2|Q9Y6L3|Q9Y6L4	Silent	SNP	ENST00000374552.4	37	c.813C>T	CCDS14394.1																																																																																				0.478	EDA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057048.2	NM_001399		6	273	0	0	0	1	0	6	273					T	69253267	C	T	69253267	2	4	237	1	0	0	0	0	0	0	0	1	4903	813	29	2		2	EDA	23	69253267	Silent	SNP	C	TCGA-EL-A3T3-01A-11D-A22D-08	32226111	69253267	86017293	42	5132											
SYTL4	94121	broad.mit.edu	37	chrX	99942164	99942164	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcatacttcagggaaaAggcaatcctgccagtcacaa	8	12	3	0			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chrX:99942164A>G	ENST00000372989.1	-	13	1415	c.1084T>C	c.(1084-1086)Ttt>Ctt	p.F362L	SYTL4_ENST00000455616.1_Missense_Mutation_p.F362L|SYTL4_ENST00000263033.5_Missense_Mutation_p.F362L|SYTL4_ENST00000372981.1_3'UTR|SYTL4_ENST00000276141.6_Missense_Mutation_p.F362L|SYTL4_ENST00000454200.2_Missense_Mutation_p.F364L	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	362	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""Insulin(DB00071)|Insulin Regular(DB00030)"	TTCAGGGAAAAGGCAATCCTG	0.502																																						ENST00000455616.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27						c.(1084-1086)Ttt>Ctt		synaptotagmin-like 4	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						102	81	88					X																	99942164		2203	4300	6503	SO:0001583	missense	94121				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding	g.chrX:99942164A>G		CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"granuphilin-a", "exophilin-2"	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.1084T>C	X.37:g.99942164A>G	ENSP00000362080:p.Phe362Leu					SYTL4_ENST00000276141.6_Missense_Mutation_p.F362L|SYTL4_ENST00000372989.1_Missense_Mutation_p.F362L|SYTL4_ENST00000454200.2_Missense_Mutation_p.F364L|SYTL4_ENST00000372981.1_3'UTR|SYTL4_ENST00000263033.5_Missense_Mutation_p.F362L	p.F362L			Q96C24	SYTL4_HUMAN			12	1430	-			362			C2 1.		Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP	ENST00000372989.1	37	c.1084T>C	CCDS14472.1	.	.	.	.	.	.	.	.	.	.	A	8.669	0.902470	0.17760	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033	T;T;T;T;T	0.07216	3.21;3.21;3.21;3.21;3.21	5.98	4.71	0.59529	C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.043536	0.85682	D	0.000000	T	0.05914	0.0154	N	0.17674	0.51	0.58432	D	0.999999	B	0.24533	0.105	B	0.20384	0.029	T	0.41945	-0.9480	9	.	.	.	-17.0152	12.5658	0.56308	0.8651:0.0:0.0:0.1348	.	362	Q96C24	SYTL4_HUMAN	L	362;362;364;362;362	ENSP00000362080:F362L;ENSP00000390252:F362L;ENSP00000403556:F364L;ENSP00000276141:F362L;ENSP00000263033:F362L	.	F	-	1	0	SYTL4	99828820	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	5.054000	0.64275	2.021000	0.59480	0.481000	0.45027	TTT		0.502	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737		3	114	0	0	0	1	0	3	114					G	99942164	A	G	99942164	3	3	237	1	0	0	0	0	1	0	0	0	15482	72	3	3	959	3	SYTL4	23	99942164	Missense_Mutation	SNP	A	TCGA-EL-A3T3-01A-11D-A22D-08	30688897	99942164	55328396	43	5133											
FLNA	2316	broad.mit.edu	37	chrX	153599581	153599581	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggagccgcgcctgctgcGctctggcccgcccgagagtg	15	18	1	1			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chrX:153599581G>A	ENST00000369850.3	-	2	269	c.33C>T	c.(31-33)agC>agT	p.S11S	FLNA_ENST00000344736.4_Silent_p.S11S|FLNA_ENST00000422373.1_Silent_p.S11S|FLNA_ENST00000360319.4_Silent_p.S11S	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	11	Actin-binding.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGCCTGCTGCGCTCTGGCCCG	0.701																																						ENST00000422373.1																			0				breast(6)	6						c.(31-33)agC>agT		filamin A, alpha							6	7	7					X																	153599581		1896	3924	5820	SO:0001819	synonymous_variant	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153599581G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.33C>T	X.37:g.153599581G>A						FLNA_ENST00000369850.3_Silent_p.S11S|FLNA_ENST00000344736.4_Silent_p.S11S|FLNA_ENST00000360319.4_Silent_p.S11S	p.S11S	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			2	281	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		11			Actin-binding.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.33C>T	CCDS48194.1																																																																																				0.701	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			4	2	0	0	0	1	0	4	2					A	153599581	G	A	153599581	2	1	237	1	0	0	0	0	0	0	0	1	5933	1078	38	1		1	FLNA	23	153599581	Silent	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08	53657417	153599581	1670979	44	5134											
MTOR	2475	broad.mit.edu	37	chr1	11297986	11297986	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtgcagatggccagctcccGgatctcaaacacctggtcat	10	13	2	1			TCGA-EL-A3T6-01A-11D-A21Z-08	TCGA-EL-A3T6-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5140ce7c-fceb-49d3-9c00-5dcb081ca0c0	021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3	g.chr1:11297986G>T	ENST00000361445.4	-	13	2198	c.2122C>A	c.(2122-2124)Cgg>Agg	p.R708R		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	708					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GCCAGCTCCCGGATCTCAAAC	0.572																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(2122-2124)Cgg>Agg		mechanistic target of rapamycin (serine/threonine kinase)							87	72	77					1																	11297986		2203	4300	6503	SO:0001819	synonymous_variant	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11297986G>T	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.2122C>A	1.37:g.11297986G>T							p.R708R	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			13	2198	-			708					Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	ENST00000361445.4	37	c.2122C>A	CCDS127.1																																																																																				0.572	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		3	80	1	0	1	1	1	3	80					T	11297986	G	T	11297986	2	4	238	1	0	0	0	0	0	0	0	1	9954	1115	39	4		4	MTOR	1	11297986	Silent	SNP	G	TCGA-EL-A3T6-01A-11D-A21Z-08		11297986	237952635	1	5135											
PUM1	9698	broad.mit.edu	37	chr1	31532162	31532162	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcaccatgctgcctctgaaaGaagtagtccaccatagcgtc	8	13	2	2			TCGA-EL-A3T6-01A-11D-A21Z-08	TCGA-EL-A3T6-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5140ce7c-fceb-49d3-9c00-5dcb081ca0c0	021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3	g.chr1:31532162G>C	ENST00000257075.5	-	2	345	c.252C>G	c.(250-252)ttC>ttG	p.F84L	PUM1_ENST00000373747.3_Missense_Mutation_p.F84L|PUM1_ENST00000424085.2_Missense_Mutation_p.F84L|PUM1_ENST00000440538.2_Missense_Mutation_p.F84L|PUM1_ENST00000423018.2_Missense_Mutation_p.F84L|PUM1_ENST00000373741.4_Missense_Mutation_p.F120L|PUM1_ENST00000373742.2_Missense_Mutation_p.F120L|PUM1_ENST00000426105.2_Missense_Mutation_p.F84L	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	84					membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		GCCTCTGAAAGAAGTAGTCCA	0.542																																						ENST00000373747.3																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(250-252)ttC>ttG		pumilio RNA-binding family member 1							100	92	95					1																	31532162		2203	4300	6503	SO:0001583	missense	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31532162G>C	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"pumilio (Drosophila) homolog 1", "pumilio homolog 1 (Drosophila)"				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.252C>G	1.37:g.31532162G>C	ENSP00000257075:p.Phe84Leu					PUM1_ENST00000426105.2_Missense_Mutation_p.F84L|PUM1_ENST00000440538.2_Missense_Mutation_p.F84L|PUM1_ENST00000373742.2_Missense_Mutation_p.F120L|PUM1_ENST00000424085.2_Missense_Mutation_p.F84L|PUM1_ENST00000257075.5_Missense_Mutation_p.F84L|PUM1_ENST00000423018.2_Missense_Mutation_p.F84L|PUM1_ENST00000373741.4_Missense_Mutation_p.F120L	p.F84L	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	2	351	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	84					A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	c.252C>G	CCDS338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.7|22.7	4.322807|4.322807	0.81580|0.81580	.|.	.|.	ENSG00000134644|ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742;ENST00000543952;ENST00000531867|ENST00000525843	T;T;T;T;T;T;T;T|.	0.55234|.	0.69;2.35;2.61;2.62;2.56;2.6;0.94;0.53|.	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.64951|0.64951	0.2645|0.2645	L|L	0.46157|0.46157	1.445|1.445	0.37086|0.37086	D|D	0.899234|0.899234	P;P;P;P;P;P|.	0.52577|.	0.924;0.924;0.924;0.954;0.924;0.924|.	P;P;P;D;P;P|.	0.63597|.	0.827;0.827;0.827;0.916;0.827;0.827|.	T|T	0.64871|0.64871	-0.6305|-0.6305	10|5	0.72032|.	D|.	0.01|.	-7.6818|-7.6818	18.9209|18.9209	0.92525|0.92525	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	120;84;120;84;84;84|.	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0|.	.;.;.;.;PUM1_HUMAN;.|.	L|V	84;84;84;84;84;84;120;84;120;84;84|101	ENSP00000400141:F84L;ENSP00000257075:F84L;ENSP00000362852:F84L;ENSP00000391723:F84L;ENSP00000401777:F84L;ENSP00000362846:F120L;ENSP00000399440:F84L;ENSP00000362847:F120L|.	ENSP00000257075:F84L|.	F|L	-|-	3|1	2|0	PUM1|PUM1	31304749|31304749	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.263000|9.263000	0.95617|0.95617	2.711000|2.711000	0.92665|0.92665	0.655000|0.655000	0.94253|0.94253	TTC|CTT		0.542	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			4	99	0	0	0	1	0	4	99					C	31532162	G	C	31532162	3	2	238	1	0	0	0	0	1	0	0	0	12825	933	33	4	3398	4	PUM1	1	31532162	Missense_Mutation	SNP	G	TCGA-EL-A3T6-01A-11D-A21Z-08	20234176	31532162	217718459	2	5136											
USH2A	7399	broad.mit.edu	37	chr1	216390846	216390846	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggcctgtgaccaagtgacAggtttcattcaaggctcctg	11	11	2	2			TCGA-EL-A3T6-01A-11D-A21Z-08	TCGA-EL-A3T6-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5140ce7c-fceb-49d3-9c00-5dcb081ca0c0	021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3	g.chr1:216390846A>G	ENST00000307340.3	-	15	3426	c.3040T>C	c.(3040-3042)Tgt>Cgt	p.C1014R	USH2A_ENST00000366942.3_Missense_Mutation_p.C1014R|USH2A_ENST00000366943.2_Missense_Mutation_p.C1014R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1014	Laminin EGF-like 10. {ECO:0000255|PROSITE-ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACCAAGTGACAGGTTTCATTC	0.403										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(3040-3042)Tgt>Cgt		Usher syndrome 2A (autosomal recessive, mild)							83	76	78					1																	216390846		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216390846A>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3040T>C	1.37:g.216390846A>G	ENSP00000305941:p.Cys1014Arg	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.C1014R|USH2A_ENST00000366942.3_Missense_Mutation_p.C1014R	p.C1014R			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	15	3426	-			1014			Laminin EGF-like 10.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.3040T>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.128720	0.77549	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	D;D;D	0.94330	-3.4;-3.4;-3.4	5.22	5.22	0.72569	EGF-like, laminin (3);	0.000000	0.44688	U	0.000421	D	0.98102	0.9374	H	0.98612	4.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99643	1.0989	10	0.87932	D	0	.	15.1022	0.72288	1.0:0.0:0.0:0.0	.	1014;1014	O75445-2;O75445	.;USH2A_HUMAN	R	1014	ENSP00000305941:C1014R;ENSP00000355910:C1014R;ENSP00000355909:C1014R	ENSP00000305941:C1014R	C	-	1	0	USH2A	214457469	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.835000	0.69368	1.978000	0.57642	0.482000	0.46254	TGT		0.403	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		16	37	0	0	0	1	0	16	37					G	216390846	A	G	216390846	3	3	238	1	0	0	0	0	1	0	0	0	17033	188	7	3	12814	3	USH2A	1	216390846	Missense_Mutation	SNP	A	TCGA-EL-A3T6-01A-11D-A21Z-08	184858684	216390846	32859775	3	5137											
PRDM8	56978	broad.mit.edu	37	chr4	81124557	81124557	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtaccatatgaggtcgcaCcacaaaaaggagtatgcgat	11	8	0	1			TCGA-EL-A3T6-01A-11D-A21Z-08	TCGA-EL-A3T6-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5140ce7c-fceb-49d3-9c00-5dcb081ca0c0	021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3	g.chr4:81124557C>T	ENST00000504452.1	+	8	2780	c.1941C>T	c.(1939-1941)caC>caT	p.H647H	PRDM8_ENST00000339711.4_Silent_p.H647H|PRDM8_ENST00000415738.2_Silent_p.H647H			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	647					corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						TGAGGTCGCACCACAAAAAGG	0.597																																						ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(1939-1941)caC>caT		PR domain containing 8							36	41	39					4																	81124557		2173	4286	6459	SO:0001819	synonymous_variant	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81124557C>T	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.1941C>T	4.37:g.81124557C>T						PRDM8_ENST00000504452.1_Silent_p.H647H|PRDM8_ENST00000415738.2_Silent_p.H647H	p.H647H	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN			10	3172	+			647					A8K7X2|Q6IQ36	Silent	SNP	ENST00000504452.1	37	c.1941C>T	CCDS43243.1																																																																																				0.597	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			13	26	0	0	0	1	0	13	26					T	81124557	C	T	81124557	2	4	238	1	0	0	0	0	0	0	0	1	12462	506	18	2		2	PRDM8	4	81124557	Silent	SNP	C	TCGA-EL-A3T6-01A-11D-A21Z-08		81124557	110029719	4	5138											
PCDHB10	56126	broad.mit.edu	37	chr5	140573713	140573713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcaggctttcgagttcCgcgtgggcgccacagaccgc	13	16	0	1			TCGA-EL-A3T6-01A-11D-A21Z-08	TCGA-EL-A3T6-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5140ce7c-fceb-49d3-9c00-5dcb081ca0c0	021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3	g.chr5:140573713C>T	ENST00000239446.4	+	1	1772	c.1588C>T	c.(1588-1590)Cgc>Tgc	p.R530C		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	530	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(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTCGAGTTCCGCGTGGGCGC	0.687																																						ENST00000239446.4																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(1588-1590)Cgc>Tgc									71	89	83					5																	140573713		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140573713C>T	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"Cadherins / Protocadherins : Clustered"	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1588C>T	5.37:g.140573713C>T	ENSP00000239446:p.Arg530Cys						p.R530C	NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1772	+			530			Cadherin 5.		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.1588C>T	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	c	12.05	1.822001	0.32237	.	.	ENSG00000120324	ENST00000239446	T	0.01767	4.65	3.53	-1.09	0.09904	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.05318	0.0141	L	0.55834	1.745	0.24359	N	0.994884	D	0.69078	0.997	D	0.65140	0.932	T	0.31943	-0.9925	9	0.52906	T	0.07	.	7.9219	0.29850	0.2181:0.429:0.3528:0.0	.	530	Q9UN67	PCDBA_HUMAN	C	530	ENSP00000239446:R530C	ENSP00000239446:R530C	R	+	1	0	PCDHB10	140553897	0.000000	0.05858	0.998000	0.56505	0.986000	0.74619	-2.949000	0.00679	-0.021000	0.14009	0.549000	0.68633	CGC		0.687	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		3	105	0	0	0	1	0	3	105					T	140573713	C	T	140573713	3	4	238	1	0	0	0	0	1	0	0	0	11535	652	23	1	1590	1	PCDHB10	5	140573713	Missense_Mutation	SNP	C	TCGA-EL-A3T6-01A-11D-A21Z-08		140573713	40341547	5	5139											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3T6-01A-11D-A21Z-08	TCGA-EL-A3T6-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5140ce7c-fceb-49d3-9c00-5dcb081ca0c0	021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		24	48	0	0	0	1	0	24	48					T	140453136	A	T	140453136	3	4	238	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3T6-01A-11D-A21Z-08		140453136	18685527	6	5140											
DCAF12	25853	broad.mit.edu	37	chr9	34107509	34107509	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cacacctccaggctcccggtCtttcagaatggggatcttgg	11	13	3	1			TCGA-EL-A3T6-01A-11D-A21Z-08	TCGA-EL-A3T6-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5140ce7c-fceb-49d3-9c00-5dcb081ca0c0	021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3	g.chr9:34107509C>A	ENST00000361264.4	-	3	729	c.388G>T	c.(388-390)Gac>Tac	p.D130Y	DCAF12_ENST00000463286.1_5'UTR	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	130					protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						GGCTCCCGGTCTTTCAGAATG	0.488																																						ENST00000361264.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						c.(388-390)Gac>Tac		DDB1 and CUL4 associated factor 12							94	93	93					9																	34107509		2203	4300	6503	SO:0001583	missense	25853					centrosome|CUL4 RING ubiquitin ligase complex		g.chr9:34107509C>A	AB067479	CCDS6549.1	9p11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000198876	ENSG00000198876		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	19911	protein-coding gene	gene with protein product	"cancer/testis antigen 102"		"KIAA1892", "WD repeat domain 40A"	KIAA1892, WDR40A		11572484, 9110174	Standard	NM_015397		Approved	DKFZP434O125, MGC1058, CT102, TCC52	uc003ztt.2	Q5T6F0	OTTHUMG00000019806	ENST00000361264.4:c.388G>T	9.37:g.34107509C>A	ENSP00000355114:p.Asp130Tyr					DCAF12_ENST00000463286.1_5'UTR	p.D130Y	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN			3	729	-			130					A8KA70|D3DRL6|Q5T6E9|Q5T6F1|Q6P3V0|Q7L4F8|Q96PZ5|Q9NXA9|Q9UFJ1	Missense_Mutation	SNP	ENST00000361264.4	37	c.388G>T	CCDS6549.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.651678	0.88056	.	.	ENSG00000198876	ENST00000361264;ENST00000396990;ENST00000450964	T;T;T	0.61510	0.1;0.1;0.1	5.07	5.07	0.68467	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.73102	0.3544	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.73642	-0.3918	10	0.51188	T	0.08	-17.6937	16.7919	0.85591	0.0:1.0:0.0:0.0	.	130	Q5T6F0	DCA12_HUMAN	Y	130;112;109	ENSP00000355114:D130Y;ENSP00000380187:D112Y;ENSP00000415833:D109Y	ENSP00000355114:D130Y	D	-	1	0	DCAF12	34097509	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.287000	0.78681	2.631000	0.89168	0.655000	0.94253	GAC		0.488	DCAF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052133.2	NM_015397		12	57	1	0	0.00136819	1	0.00152022	12	57					A	34107509	C	A	34107509	3	1	238	1	0	0	0	0	1	0	0	0	4263	913	32	4	1001	4	DCAF12	9	34107509	Missense_Mutation	SNP	C	TCGA-EL-A3T6-01A-11D-A21Z-08		34107509	107105922	7	5141											
SYT1	6857	broad.mit.edu	37	chr12	79747297	79747297	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttagcaagagaaattgggtGatatctgcttctcccttcgc	9	10	2	2			TCGA-EL-A3T6-01A-11D-A21Z-08	TCGA-EL-A3T6-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5140ce7c-fceb-49d3-9c00-5dcb081ca0c0	021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3	g.chr12:79747297G>A	ENST00000261205.4	+	9	1483	c.826G>A	c.(826-828)Gat>Aat	p.D276N	SYT1_ENST00000393240.3_Missense_Mutation_p.D276N|SYT1_ENST00000552744.1_Missense_Mutation_p.D276N|SYT1_ENST00000457153.2_Missense_Mutation_p.D273N	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	276	Phospholipid binding. {ECO:0000305}.				calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						GAAATTGGGTGATATCTGCTT	0.363																																						ENST00000261205.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						c.(826-828)Gat>Aat		synaptotagmin I							186	176	179					12																	79747297		2203	4300	6503	SO:0001583	missense	6857				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	g.chr12:79747297G>A		CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"Synaptotagmins"	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.826G>A	12.37:g.79747297G>A	ENSP00000261205:p.Asp276Asn					SYT1_ENST00000552744.1_Missense_Mutation_p.D276N|SYT1_ENST00000457153.2_Missense_Mutation_p.D273N|SYT1_ENST00000393240.3_Missense_Mutation_p.D276N	p.D276N	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN			9	1483	+			276			Phospholipid binding (Probable).		Q6AI31	Missense_Mutation	SNP	ENST00000261205.4	37	c.826G>A	CCDS9017.1	.	.	.	.	.	.	.	.	.	.	G	35	5.543864	0.96474	.	.	ENSG00000067715	ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552744	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	6.06	6.06	0.98353	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.88713	0.6511	M	0.93594	3.435	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.67725	0.953;0.953	D	0.90355	0.4369	10	0.87932	D	0	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	276;276	Q6AI31;P21579	.;SYT1_HUMAN	N	276;276;273;276	ENSP00000376932:D276N;ENSP00000261205:D276N;ENSP00000391056:D273N;ENSP00000447575:D276N	ENSP00000261205:D276N	D	+	1	0	SYT1	78271428	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.880000	0.98712	0.650000	0.86243	GAT		0.363	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1	NM_005639		5	149	0	0	0	1	0	5	149					A	79747297	G	A	79747297	3	1	238	1	0	0	0	0	1	0	0	0	15462	1290	45	2	848	2	SYT1	12	79747297	Missense_Mutation	SNP	G	TCGA-EL-A3T6-01A-11D-A21Z-08		79747297	54104598	8	5142											
POP5	51367	broad.mit.edu	37	chr12	121017154	121017156	+	In_Frame_Del	DEL	CTC	CTC	-													tctgcagcctcctcacctgaCtcctcctcctcctctaataa					rs188092231|rs369463367		TCGA-EL-A3T6-01A-11D-A21Z-08	TCGA-EL-A3T6-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5140ce7c-fceb-49d3-9c00-5dcb081ca0c0	021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3	g.chr12:121017154_121017156delCTC	ENST00000357500.4	-	5	492_494	c.457_459delGAG	c.(457-459)gagdel	p.E153del	POP5_ENST00000341039.2_In_Frame_Del_p.E103del|POP5_ENST00000542776.1_5'UTR	NM_015918.3	NP_057002.2	Q969H6	POP5_HUMAN	processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)	153					tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)	ribonuclease P activity (GO:0004526)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	all_neural(191;0.077)|Medulloblastoma(191;0.0922)					CCTCACCTGACTCCTCCTCCTCC	0.517																																						ENST00000341039.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7						c.(307-309)del		processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)																																				SO:0001651	inframe_deletion	51367				tRNA processing		protein binding|ribonuclease P activity	g.chr12:121017154_121017156delCTC	AJ306296	CCDS9202.1, CCDS9203.1	12q24.31	2012-05-21			ENSG00000167272	ENSG00000167272			17689	protein-coding gene	gene with protein product		609992				11413139	Standard	NM_198202		Approved		uc001tys.3	Q969H6	OTTHUMG00000169023	ENST00000357500.4:c.457_459delGAG	12.37:g.121017163_121017165delCTC	ENSP00000350098:p.Glu153del					POP5_ENST00000542776.1_5'UTR|POP5_ENST00000357500.4_In_Frame_Del_p.E153del	p.E103del	NM_198202.1	NP_937845.1	Q969H6	POP5_HUMAN			4	323_325	-	all_neural(191;0.077)|Medulloblastoma(191;0.0922)		153					A6NL80|Q53FS5|Q9Y2Q6	In_Frame_Del	DEL	ENST00000357500.4	37	c.307_309delGAG	CCDS9202.1																																																																																				0.517	POP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401993.1	NM_015918		7	204						7	204	---	---	---	---	-	121017156	CTC	-	121017154	7	5	238	1	0	1	0	1	0	0	0	0	12253	564	20	0	36	0	POP5	12	121017154	In_Frame_Del	DEL	CTC	TCGA-EL-A3T6-01A-11D-A21Z-08	41269857	121017154	12834741	9	5143											
DYNC1H1	1778	broad.mit.edu	37	chr14	102466737	102466737	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttcagtacagcctcgaaagGtatatcatgaaatcggtgtt	9	7	2	1			TCGA-EL-A3T6-01A-11D-A21Z-08	TCGA-EL-A3T6-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5140ce7c-fceb-49d3-9c00-5dcb081ca0c0	021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3	g.chr14:102466737G>T	ENST00000360184.4	+	18	4238		c.e18+1			NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.?(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GCCTCGAAAGGTATATCATGA	0.403																																						ENST00000360184.4																			1	Unknown(1)	p.?(1)	kidney(1)	NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.e18+1		dynein, cytoplasmic 1, heavy chain 1							96	96	96					14																	102466737		2203	4300	6503	SO:0001630	splice_region_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102466737G>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.4074+1G>T	14.37:g.102466737G>T								NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			18	4238	+								B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Splice_Site	SNP	ENST00000360184.4	37		CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.038429	0.93630	.	.	ENSG00000197102	ENST00000360184	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0769	0.97748	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DYNC1H1	101536490	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.805000	0.99149	2.820000	0.97059	0.650000	0.86243	.		0.403	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376	Intron	12	27	1	0	2.27111e-07	1	2.67189e-07	12	27					T	102466737	G	T	102466737	5	4	238	1	0	0	0	0	0	0	1	0	4841	1275	44	4	4145	4	DYNC1H1	14	102466737	Splice_Site	SNP	G	TCGA-EL-A3T6-01A-11D-A21Z-08		102466737	4882803	10	5144											
NXN	64359	broad.mit.edu	37	chr17	726925	726925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccctccaggctgctgctctCcagagactgcccattgtttc	8	17	1	1			TCGA-EL-A3T6-01A-11D-A21Z-08	TCGA-EL-A3T6-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5140ce7c-fceb-49d3-9c00-5dcb081ca0c0	021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3	g.chr17:726925C>T	ENST00000336868.3	-	3	650	c.559G>A	c.(559-561)Gag>Aag	p.E187K	NXN_ENST00000577098.1_5'UTR|NXN_ENST00000537628.2_5'UTR|NXN_ENST00000575801.1_Missense_Mutation_p.E79K|NXN_ENST00000538650.1_5'Flank	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	187	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cardiovascular system development (GO:0072358)|cell differentiation (GO:0030154)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-disulfide reductase activity (GO:0047134)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		CTGCTGCTCTCCAGAGACTGC	0.552																																						ENST00000336868.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13						c.(559-561)Gag>Aag		nucleoredoxin							64	61	62					17																	726925		2203	4300	6503	SO:0001583	missense	64359				cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity	g.chr17:726925C>T		CCDS10998.1, CCDS56013.1	17p13	2007-08-10			ENSG00000167693	ENSG00000167693			18008	protein-coding gene	gene with protein product		612895					Standard	NM_022463		Approved	FLJ12614, NRX	uc002fsa.3	Q6DKJ4	OTTHUMG00000090307	ENST00000336868.3:c.559G>A	17.37:g.726925C>T	ENSP00000337443:p.Glu187Lys					NXN_ENST00000537628.2_5'UTR|NXN_ENST00000577098.1_5'UTR|NXN_ENST00000575801.1_Missense_Mutation_p.E79K	p.E187K	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)	3	650	-			187			Thioredoxin.		B4DXQ0|D3DTH2|Q3SWW6|Q6P3U6|Q7L4C6|Q9H9Q1	Missense_Mutation	SNP	ENST00000336868.3	37	c.559G>A	CCDS10998.1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.907391	0.72868	.	.	ENSG00000167693	ENST00000336868;ENST00000537628	T	0.79749	-1.3	5.87	5.87	0.94306	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (3);	0.130656	0.64402	D	0.000002	T	0.61060	0.2317	N	0.04297	-0.235	0.80722	D	1	B;P;P	0.43094	0.008;0.592;0.799	B;B;B	0.37601	0.011;0.254;0.152	T	0.64795	-0.6323	10	0.07644	T	0.81	-12.6467	19.5705	0.95413	0.0:1.0:0.0:0.0	.	79;74;187	B4DXQ0;Q6DKJ4-2;Q6DKJ4	.;.;NXN_HUMAN	K	187;79	ENSP00000337443:E187K	ENSP00000337443:E187K	E	-	1	0	NXN	673675	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.407000	0.80029	2.941000	0.99782	0.655000	0.94253	GAG		0.552	NXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206669.1			3	55	0	0	0	1	0	3	55					T	726925	C	T	726925	3	4	238	1	0	0	0	0	1	0	0	0	10787	864	30	2	772	2	NXN	17	726925	Missense_Mutation	SNP	C	TCGA-EL-A3T6-01A-11D-A21Z-08		726925	80468285	11	5145											
ADARB1	104	broad.mit.edu	37	chr21	46624644	46624644	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tacaccctcaacaagcctttGctcagtggcaagtatctcta	6	13	3	0			TCGA-EL-A3T6-01A-11D-A21Z-08	TCGA-EL-A3T6-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5140ce7c-fceb-49d3-9c00-5dcb081ca0c0	021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3	g.chr21:46624644G>C	ENST00000360697.3	+	8	1875	c.1860G>C	c.(1858-1860)ttG>ttC	p.L620F	ADARB1_ENST00000348831.4_Missense_Mutation_p.L580F|ADARB1_ENST00000539173.1_Missense_Mutation_p.L620F|ADARB1_ENST00000389863.4_Missense_Mutation_p.L620F|ADARB1_ENST00000437626.1_3'UTR			P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	620	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|positive regulation of viral genome replication (GO:0045070)|regulation of cell cycle (GO:0051726)|RNA processing (GO:0006396)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA adenosine deaminase activity (GO:0003726)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		ACAAGCCTTTGCTCAGTGGCA	0.488																																						ENST00000539173.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17						c.(1858-1860)ttG>ttC		adenosine deaminase, RNA-specific, B1							101	86	91					21																	46624644		2203	4300	6503	SO:0001583	missense	104				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding	g.chr21:46624644G>C	U76420	CCDS33589.1, CCDS33590.1, CCDS42970.1	21q22.3	2012-03-22	2010-06-24		ENSG00000197381	ENSG00000197381	3.5.-.-		226	protein-coding gene	gene with protein product	"RED1 homolog (rat)"	601218	"adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)"			9143496, 14759252	Standard	NR_027672		Approved	ADAR2, DRADA2, ADAR2g, DRABA2, RED1, hRED1, ADAR2a-L1, ADAR2a-L2, ADAR2a-L3, ADAR2a, ADAR2b, ADAR2c, ADAR2d	uc002zgy.2	P78563	OTTHUMG00000090295	ENST00000360697.3:c.1860G>C	21.37:g.46624644G>C	ENSP00000353920:p.Leu620Phe					ADARB1_ENST00000389863.4_Missense_Mutation_p.L620F|ADARB1_ENST00000348831.4_Missense_Mutation_p.L580F|ADARB1_ENST00000437626.1_3'UTR|ADARB1_ENST00000360697.3_Missense_Mutation_p.L620F	p.L620F	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN		Colorectal(79;0.115)	10	2295	+			620			A to I editase.		A6NFK8|A6NJ84|C3TTQ1|C3TTQ2|C9JUP4|G5E9B4|O00395|O00465|O00691|O00692|P78555|Q4AE79|Q6P0M9|Q8NFD1	Missense_Mutation	SNP	ENST00000360697.3	37	c.1860G>C	CCDS33589.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576004	0.65878	.	.	ENSG00000197381	ENST00000539173;ENST00000539917;ENST00000389863;ENST00000348831;ENST00000360697	D;D;D;D	0.94576	-3.46;-3.46;-3.46;-3.46	5.01	2.0	0.26442	Adenosine deaminase/editase (3);	0.000000	0.85682	D	0.000000	D	0.93311	0.7868	L	0.58925	1.835	0.80722	D	1	B;P;P;P	0.47962	0.213;0.892;0.731;0.903	B;P;B;P	0.52881	0.275;0.453;0.324;0.712	D	0.90956	0.4809	10	0.51188	T	0.08	-26.6987	4.8629	0.13592	0.172:0.3734:0.4546:0.0	.	620;580;608;620	P78563;Q4AE77;G5E9B4;P78563-3	RED1_HUMAN;.;.;.	F	620;620;620;580;620	ENSP00000441897:L620F;ENSP00000374513:L620F;ENSP00000015877:L580F;ENSP00000353920:L620F	ENSP00000015877:L580F	L	+	3	2	ADARB1	45449072	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.713000	0.37951	1.222000	0.43521	0.650000	0.86243	TTG		0.488	ADARB1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206648.2	NM_015833		25	35	0	0	0	1	0	25	35					C	46624644	G	C	46624644	3	2	238	1	0	0	0	0	1	0	0	0	282	1310	46	4	1890	4	ADARB1	21	46624644	Missense_Mutation	SNP	G	TCGA-EL-A3T6-01A-11D-A21Z-08		46624644	1505251	12	5146											
ARHGEF10L	55160	broad.mit.edu	37	chr1	18014116	18014116	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtgagcgtgacacacatgGtgaaggcgggcagcggcgtc	17	10	0	3			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr1:18014116G>T	ENST00000361221.3	+	27	3217	c.3058G>T	c.(3058-3060)Gtg>Ttg	p.V1020L	ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.V793L|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.V981L|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.V1015L|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.V981L|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.V723L	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1020						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)		GACACACATGGTGAAGGCGGG	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.(3058-3060)Gtg>Ttg		Rho guanine nucleotide exchange factor (GEF) 10-like							92	80	84					1																	18014116		2203	4300	6503	SO:0001583	missense	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:18014116G>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.3058G>T	1.37:g.18014116G>T	ENSP00000355060:p.Val1020Leu					ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.V981L|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.V793L|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.V1015L|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.V723L|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.V981L	p.V1020L	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)	27	3217	+		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)	1020					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.3058G>T	CCDS182.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.158408	0.57368	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375408;ENST00000457829;ENST00000167825	T;T;T;T;T;T	0.62941	1.48;1.48;-0.01;1.48;1.48;1.48	4.8	4.8	0.61643	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.206543	0.34986	N	0.003529	T	0.67239	0.2872	M	0.79926	2.475	0.41863	D	0.990233	P;P;P;B;P;P;P	0.44946	0.761;0.802;0.749;0.371;0.846;0.798;0.696	B;P;B;B;B;B;B	0.45343	0.21;0.477;0.318;0.153;0.379;0.409;0.232	T	0.73065	-0.4100	10	0.59425	D	0.04	-18.9479	11.0755	0.48030	0.0913:0.0:0.9087:0.0	.	793;1015;723;781;976;981;1020	Q5VXI4;Q9HCE6-5;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;ARGAL_HUMAN	L	1020;981;1015;981;793;793;723	ENSP00000355060:V1020L;ENSP00000399401:V981L;ENSP00000394621:V1015L;ENSP00000364564:V981L;ENSP00000364557:V793L;ENSP00000167825:V723L	ENSP00000167825:V723L	V	+	1	0	ARHGEF10L	17886703	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	5.190000	0.65104	2.203000	0.70933	0.561000	0.74099	GTG		0.622	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		38	39	1	0	7.93934e-33	1	8.73328e-33	38	39					T	18014116	G	T	18014116	3	4	239	1	0	0	0	0	1	0	0	0	895	1261	44	4	3160	4	ARHGEF10L	1	18014116	Missense_Mutation	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08		18014116	231236505	1	5147											
CSF3R	1441	broad.mit.edu	37	chr1	36941036	36941036	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttgccccagttcaggcaGcaggagagaaaggcctgagt	14	10	1	2			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr1:36941036G>A	ENST00000373106.1	-	4	850	c.303C>T	c.(301-303)tgC>tgT	p.C101C	CSF3R_ENST00000361632.4_Silent_p.C101C|CSF3R_ENST00000338937.5_Silent_p.C101C|CSF3R_ENST00000373104.1_Silent_p.C101C|CSF3R_ENST00000418048.2_Silent_p.C101C|CSF3R_ENST00000373103.1_Silent_p.C101C|CSF3R_ENST00000440588.2_Silent_p.C101C|CSF3R_ENST00000331941.5_Silent_p.C101C	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	101	Ig-like C2-type.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	AGTTCAGGCAGCAGGAGAGAA	0.607																																						ENST00000373103.1																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(301-303)tgC>tgT		colony stimulating factor 3 receptor (granulocyte)	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						103	85	91					1																	36941036		2203	4300	6503	SO:0001819	synonymous_variant	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36941036G>A	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"CD molecules", "Fibronectin type III domain containing"	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.303C>T	1.37:g.36941036G>A						CSF3R_ENST00000373104.1_Silent_p.C101C|CSF3R_ENST00000338937.5_Silent_p.C101C|CSF3R_ENST00000361632.4_Silent_p.C101C|CSF3R_ENST00000440588.2_Silent_p.C101C|CSF3R_ENST00000418048.2_Silent_p.C101C|CSF3R_ENST00000373106.1_Silent_p.C101C|CSF3R_ENST00000331941.5_Silent_p.C101C	p.C101C	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN			4	850	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	101			Ig-like C2-type.			Silent	SNP	ENST00000373106.1	37	c.303C>T	CCDS413.1																																																																																				0.607	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		4	153	0	0	0	1	0	4	153					A	36941036	G	A	36941036	2	1	239	1	0	0	0	0	0	0	0	1	3937	963	34	2		2	CSF3R	1	36941036	Silent	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08	18926920	36941036	212309585	2	5148											
GUK1	2987	broad.mit.edu	37	chr1	228335126	228335126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaggtggcggtgcaggccGtgcaggccatgaaccgcatc	16	12	0	1	rs200469661		TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr1:228335126G>A	ENST00000366718.1	+	5	698	c.271G>A	c.(271-273)Gtg>Atg	p.V91M	GUK1_ENST00000366723.1_Missense_Mutation_p.V112M|GUK1_ENST00000470040.1_3'UTR|GJC2_ENST00000366714.2_5'Flank|GUK1_ENST00000312726.4_Missense_Mutation_p.V91M|GUK1_ENST00000391865.3_Missense_Mutation_p.V112M|GUK1_ENST00000366730.1_Missense_Mutation_p.V91M|GUK1_ENST00000366728.2_Missense_Mutation_p.V112M|GUK1_ENST00000366722.1_Missense_Mutation_p.V91M|GUK1_ENST00000366716.1_Missense_Mutation_p.V91M|GUK1_ENST00000366721.1_Missense_Mutation_p.V93M|GUK1_ENST00000366726.1_Missense_Mutation_p.V91M	NM_001159391.1	NP_001152863.1	Q16774	KGUA_HUMAN	guanylate kinase 1	91	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				ATP metabolic process (GO:0046034)|dATP metabolic process (GO:0046060)|dGDP biosynthetic process (GO:0006185)|dGMP metabolic process (GO:0046054)|drug metabolic process (GO:0017144)|GDP biosynthetic process (GO:0046711)|GDP-mannose metabolic process (GO:0019673)|glycoprotein transport (GO:0034436)|GMP metabolic process (GO:0046037)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleotide metabolic process (GO:0006163)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			endometrium(2)|lung(5)|prostate(1)|soft_tissue(1)	9		Prostate(94;0.0405)				GGTGCAGGCCGTGCAGGCCAT	0.657													G|||	1	0.000199681	0	0	5008	,	,		16746	0.001		0	False		,,,				2504	0					ENST00000366718.1																			0				endometrium(2)|lung(5)|prostate(1)|soft_tissue(1)	9						c.(271-273)Gtg>Atg		guanylate kinase 1							85	76	79					1																	228335126		2203	4300	6503	SO:0001583	missense	2987				nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process	cytosol	ATP binding|guanylate kinase activity	g.chr1:228335126G>A	BC006249	CCDS1568.1, CCDS53481.1, CCDS55689.1	1q32-q41	2012-10-02			ENSG00000143774	ENSG00000143774	2.7.4.8		4693	protein-coding gene	gene with protein product		139270				8647247	Standard	NM_000858		Approved		uc021pkf.1	Q16774	OTTHUMG00000039503	ENST00000366718.1:c.271G>A	1.37:g.228335126G>A	ENSP00000355679:p.Val91Met					GUK1_ENST00000366722.1_Missense_Mutation_p.V91M|GUK1_ENST00000312726.4_Missense_Mutation_p.V91M|GUK1_ENST00000470040.1_3'UTR|GUK1_ENST00000366721.1_Missense_Mutation_p.V93M|GUK1_ENST00000366716.1_Missense_Mutation_p.V91M|GUK1_ENST00000391865.3_Missense_Mutation_p.V112M|GUK1_ENST00000366728.2_Missense_Mutation_p.V112M|GUK1_ENST00000366723.1_Missense_Mutation_p.V112M|GUK1_ENST00000366726.1_Missense_Mutation_p.V91M|GUK1_ENST00000366730.1_Missense_Mutation_p.V91M	p.V91M	NM_001159391.1	NP_001152863.1	Q16774	KGUA_HUMAN			5	698	+		Prostate(94;0.0405)	91			Guanylate kinase-like.		B1ANH1	Missense_Mutation	SNP	ENST00000366718.1	37	c.271G>A	CCDS1568.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	21.3	4.135296	0.77662	.	.	ENSG00000143774	ENST00000366730;ENST00000391865;ENST00000366726;ENST00000312726;ENST00000366728;ENST00000453943;ENST00000366723;ENST00000366722;ENST00000435153;ENST00000366721;ENST00000412265;ENST00000366718;ENST00000366716;ENST00000420445	T;T;T;T;T;T;T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62	4.96	4.96	0.65561	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	T	0.67154	0.2863	M	0.64260	1.97	0.48288	D	0.99962	D;D	0.89917	1.0;1.0	D;D	0.79784	0.989;0.993	T	0.70285	-0.4914	10	0.87932	D	0	.	18.0194	0.89251	0.0:0.0:1.0:0.0	.	112;91	B4E1H6;Q16774	.;KGUA_HUMAN	M	91;112;91;91;112;112;112;91;157;93;157;91;91;94	ENSP00000355691:V91M;ENSP00000375738:V112M;ENSP00000355687:V91M;ENSP00000317659:V91M;ENSP00000355689:V112M;ENSP00000401832:V112M;ENSP00000355684:V112M;ENSP00000355683:V91M;ENSP00000403664:V157M;ENSP00000355682:V93M;ENSP00000407604:V157M;ENSP00000355679:V91M;ENSP00000355677:V91M	ENSP00000317659:V91M	V	+	1	0	GUK1	226401749	1.000000	0.71417	0.909000	0.35828	0.774000	0.43823	3.492000	0.53259	2.570000	0.86706	0.557000	0.71058	GTG		0.657	GUK1-021	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000095944.1	NM_000858		4	157	0	0	0	1	0	4	157					A	228335126	G	A	228335126	3	1	239	1	0	0	0	0	1	0	0	0	6900	1145	40	1	352	1	GUK1	1	228335126	Missense_Mutation	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08	191394090	228335126	20915495	3	5149											
PROM2	150696	broad.mit.edu	37	chr2	95947921	95947921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggggcagcgctctggacaGtcctgcagctcaacgactcc	12	14	2	0			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr2:95947921G>A	ENST00000317620.9	+	14	1808	c.1675G>A	c.(1675-1677)Gtc>Atc	p.V559I	PROM2_ENST00000317668.4_Missense_Mutation_p.V559I|PROM2_ENST00000403131.2_Missense_Mutation_p.V559I|PROM2_ENST00000542147.1_Missense_Mutation_p.V559I	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	559					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GCTCTGGACAGTCCTGCAGCT	0.617																																						ENST00000317620.9																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(1675-1677)Gtc>Atc		prominin 2							55	49	51					2																	95947921		2203	4300	6503	SO:0001583	missense	150696					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		g.chr2:95947921G>A	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.1675G>A	2.37:g.95947921G>A	ENSP00000318270:p.Val559Ile					PROM2_ENST00000542147.1_Missense_Mutation_p.V559I|PROM2_ENST00000403131.2_Missense_Mutation_p.V559I|PROM2_ENST00000317668.4_Missense_Mutation_p.V559I	p.V559I	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN			14	1808	+			559					A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	ENST00000317620.9	37	c.1675G>A	CCDS2012.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.484447	0.84854	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000016	T	0.68284	0.2984	M	0.79475	2.455	0.39874	D	0.973548	D	0.89917	1.0	D	0.91635	0.999	T	0.70648	-0.4814	10	0.42905	T	0.14	-33.9211	14.2782	0.66194	0.0:0.0:1.0:0.0	.	559	Q8N271	PROM2_HUMAN	I	559	ENSP00000385716:V559I;ENSP00000318520:V559I;ENSP00000318270:V559I;ENSP00000442542:V559I	ENSP00000318270:V559I	V	+	1	0	PROM2	95311648	0.980000	0.34600	0.938000	0.37757	0.990000	0.78478	2.330000	0.43885	2.434000	0.82447	0.561000	0.74099	GTC		0.617	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		3	51	0	0	0	1	0	3	51					A	95947921	G	A	95947921	3	1	239	1	0	0	0	0	1	0	0	0	12556	1029	36	2	1729	2	PROM2	2	95947921	Missense_Mutation	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08		95947921	147251452	4	5150											
FOXD4L1	200350	broad.mit.edu	37	chr2	114257270	114257270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcttcccctactaccgccGcaagttccccgcctggcaga	8	20	0	1			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr2:114257270G>A	ENST00000306507.5	+	1	610	c.437G>A	c.(436-438)cGc>cAc	p.R146H		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	146					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						TACTACCGCCGCAAGTTCCCC	0.647																																						ENST00000306507.5																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						c.(436-438)cGc>cAc		forkhead box D4-like 1							21	29	26					2																	114257270		1969	3887	5856	SO:0001583	missense	200350				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system 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 activator activity|transcription factor binding	g.chr2:114257270G>A	AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.437G>A	2.37:g.114257270G>A	ENSP00000302756:p.Arg146His						p.R146H	NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN			1	610	+			146					B3KWN1|B9EGF3	Missense_Mutation	SNP	ENST00000306507.5	37	c.437G>A	CCDS2117.1	.	.	.	.	.	.	.	.	.	.	.	18.48	3.632869	0.67015	.	.	ENSG00000184492	ENST00000306507	D	0.95518	-3.73	2.57	2.57	0.30868	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.32161	U	0.006500	D	0.93122	0.7810	N	0.13327	0.33	0.34798	D	0.736421	D	0.89917	1.0	D	0.70716	0.97	D	0.92718	0.6189	10	0.62326	D	0.03	.	5.4261	0.16427	0.1646:0.0:0.8354:0.0	.	146	Q9NU39	FX4L1_HUMAN	H	146	ENSP00000302756:R146H	ENSP00000302756:R146H	R	+	2	0	FOXD4L1	113973740	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	3.860000	0.55995	1.452000	0.47756	0.184000	0.17185	CGC		0.647	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254148.1	NM_012184		5	335	0	0	0	1	0	5	335					A	114257270	G	A	114257270	3	1	239	1	0	0	0	0	1	0	0	0	6000	1087	38	1	439	1	FOXD4L1	2	114257270	Missense_Mutation	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08	18309349	114257270	128942103	5	5151											
MAP3K13	9175	broad.mit.edu	37	chr3	185146741	185146741	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attcagttcagcaggtcaggCagtggcagtggtgggtttct	15	7	4	0			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr3:185146741C>A	ENST00000265026.3	+	2	706	c.372C>A	c.(370-372)ggC>ggA	p.G124G	MAP3K13_ENST00000535426.1_Intron|MAP3K13_ENST00000446828.1_Intron|MAP3K13_ENST00000443863.1_Intron|MAP3K13_ENST00000424227.1_Silent_p.G124G	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GCAGGTCAGGCAGTGGCAGTG	0.488																																						ENST00000265026.3																			0				NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(370-372)ggC>ggA		mitogen-activated protein kinase kinase kinase 13							94	94	94					3																	185146741		2203	4300	6503	SO:0001819	synonymous_variant	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185146741C>A	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6852	protein-coding gene	gene with protein product	"leucine zipper-bearing kinase"	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.372C>A	3.37:g.185146741C>A						MAP3K13_ENST00000446828.1_Intron|MAP3K13_ENST00000443863.1_Intron|MAP3K13_ENST00000424227.1_Silent_p.G124G|MAP3K13_ENST00000535426.1_Intron	p.G124G	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		2	706	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		124						Silent	SNP	ENST00000265026.3	37	c.372C>A	CCDS3270.1																																																																																				0.488	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		3	102	1	0	1	1	1	3	102					A	185146741	C	A	185146741	2	1	239	1	0	0	0	0	0	0	0	1	9247	697	25	4		4	MAP3K13	3	185146741	Silent	SNP	C	TCGA-EL-A3T7-01A-11D-A22D-08		185146741	12875689	6	5152											
PCDHA1	56147	broad.mit.edu	37	chr5	140167696	140167696	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgggctacaacgcgtggctGtcctatgaactgcagccggc	13	13	0	1			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr5:140167696G>A	ENST00000504120.2	+	1	1821	c.1821G>A	c.(1819-1821)ctG>ctA	p.L607L	PCDHA1_ENST00000378133.3_Silent_p.L607L|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	607	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGTGGCTGTCCTATGAAC	0.672																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(1819-1821)ctG>ctA									85	85	85					5																	140167696		2203	4299	6502	SO:0001819	synonymous_variant	0							g.chr5:140167696G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1821G>A	5.37:g.140167696G>A						PCDHA1_ENST00000378133.3_Silent_p.L607L|PCDHA1_ENST00000394633.3_Intron	p.L607L	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1821	+								O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	c.1821G>A	CCDS54913.1																																																																																				0.672	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		4	199	0	0	0	1	0	4	199					A	140167696	G	A	140167696	2	1	239	1	0	0	0	0	0	0	0	1	11519	1364	48	2		2	PCDHA1	5	140167696	Silent	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08		140167696	40747564	7	5153											
BAG2	9532	broad.mit.edu	37	chr6	57037528	57037528	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aagatcaacgctaaagccaaCgaggggcgcttctgccgctc	11	13	2	1			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr6:57037528C>G	ENST00000370693.5	+	1	405	c.33C>G	c.(31-33)aaC>aaG	p.N11K	RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000588819.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000585414.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000590164.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000592785.1_RNA|RP11-203B9.4_ENST00000589312.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586234.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|BAG2_ENST00000545080.1_5'Flank|RP11-203B9.4_ENST00000609545.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000589394.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA	NM_004282.3	NP_004273.1	O95816	BAG2_HUMAN	BCL2-associated athanogene 2	11					protein folding (GO:0006457)|protein metabolic process (GO:0019538)		identical protein binding (GO:0042802)			endometrium(1)|large_intestine(1)	2	Lung NSC(77;0.126)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CTAAAGCCAACGAGGGGCGCT	0.687																																						ENST00000370693.5																			0				endometrium(1)|large_intestine(1)	2						c.(31-33)aaC>aaG		BCL2-associated athanogene 2							33	29	30					6																	57037528		2200	4297	6497	SO:0001583	missense	9532				apoptosis|protein folding		protein binding	g.chr6:57037528C>G	AF095192	CCDS4961.1	6p12.3-p11.2	2008-02-05			ENSG00000112208	ENSG00000112208			938	protein-coding gene	gene with protein product		603882				9873016	Standard	NM_004282		Approved		uc003pdr.3	O95816	OTTHUMG00000014919	ENST00000370693.5:c.33C>G	6.37:g.57037528C>G	ENSP00000359727:p.Asn11Lys					RP11-203B9.4_ENST00000585414.1_RNA	p.N11K	NM_004282.3	NP_004273.1	O95816	BAG2_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		1	405	+	Lung NSC(77;0.126)		11					B4DXE2|Q08AS9|Q6FID0	Missense_Mutation	SNP	ENST00000370693.5	37	c.33C>G	CCDS4961.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.100264	0.37048	.	.	ENSG00000112208	ENST00000370693	.	.	.	4.89	3.11	0.35812	.	0.146062	0.64402	D	0.000014	T	0.22742	0.0549	L	0.44542	1.39	0.80722	D	1	B	0.12630	0.006	B	0.12837	0.008	T	0.21759	-1.0236	9	0.06099	T	0.92	-8.6895	10.7814	0.46379	0.0:0.8417:0.0:0.1583	.	11	O95816	BAG2_HUMAN	K	11	.	ENSP00000359727:N11K	N	+	3	2	BAG2	57145487	1.000000	0.71417	0.896000	0.35187	0.841000	0.47740	0.956000	0.29202	0.471000	0.27319	0.467000	0.42956	AAC		0.687	BAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041044.2			6	5	0	0	0	1	0	6	5					G	57037528	C	G	57037528	3	3	239	1	0	0	0	0	1	0	0	0	1287	535	19	4	35	4	BAG2	6	57037528	Missense_Mutation	SNP	C	TCGA-EL-A3T7-01A-11D-A22D-08		57037528	114077539	8	5154											
RNF146	81847	broad.mit.edu	37	chr6	127608035	127608035	+	Missense_Mutation	SNP	G	G	C													caaccttgttgtcaccagaaGaactcaaggcagcaagtaga							TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr6:127608035G>C	ENST00000368314.1	+	3	701	c.277G>C	c.(277-279)Gaa>Caa	p.E93Q	RNF146_ENST00000480444.1_3'UTR|RNF146_ENST00000608991.1_Missense_Mutation_p.E92Q|RNF146_ENST00000356799.2_3'UTR|RNF146_ENST00000309649.3_Missense_Mutation_p.E92Q|RNF146_ENST00000476956.1_3'UTR|RNF146_ENST00000489534.1_3'UTR|RNF146_ENST00000610153.1_Missense_Mutation_p.E93Q	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	93	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly-ADP-D-ribose binding (GO:0072572)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		GTCACCAGAAGAACTCAAGGC	0.463																																						ENST00000368314.1																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10						c.(277-279)Gaa>Caa		ring finger protein 146							79	73	75					6																	127608035		2203	4300	6503	SO:0001583	missense	81847				positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:127608035G>C	AK027558	CCDS5136.1, CCDS56449.1	6q22.1-q22.33	2008-02-05			ENSG00000118518	ENSG00000118518		"RING-type (C3HC4) zinc fingers"	21336	protein-coding gene	gene with protein product		612137					Standard	NM_001242844		Approved	DKFZp434O1427, dactylidin, dJ351K20.1	uc021zes.1	Q9NTX7	OTTHUMG00000015522	ENST00000368314.1:c.277G>C	6.37:g.127608035G>C	ENSP00000357297:p.Glu93Gln					RNF146_ENST00000309649.3_Missense_Mutation_p.E92Q|RNF146_ENST00000356799.2_Missense_Mutation_p.E92Q|RNF146_ENST00000476956.1_3'UTR	p.E93Q	NM_001242849.1|NM_001242850.1|NM_001242851.1	NP_001229778.1|NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN		GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)	3	701	+			93			WWE.		E1P572|Q6FIB2|Q7L8H4|Q96K03|Q96T06|Q9NTX6	Missense_Mutation	SNP	ENST00000368314.1	37	c.277G>C	CCDS56449.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525746	0.85600	.	.	ENSG00000118518	ENST00000368314;ENST00000356799;ENST00000309649	T;T;T	0.31510	1.49;1.49;1.49	5.8	5.8	0.92144	WWE domain (1);	0.000000	0.85682	D	0.000000	T	0.33585	0.0868	L	0.43152	1.355	0.80722	D	1	D	0.61697	0.99	P	0.54140	0.743	T	0.01468	-1.1347	10	0.46703	T	0.11	0.242	20.0734	0.97734	0.0:0.0:1.0:0.0	.	93	Q9NTX7	RN146_HUMAN	Q	93;92;92	ENSP00000357297:E93Q;ENSP00000349253:E92Q;ENSP00000309365:E92Q	ENSP00000309365:E92Q	E	+	1	0	RNF146	127649728	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.956000	0.87863	2.748000	0.94277	0.655000	0.94253	GAA		0.463	RNF146-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042112.1	NM_030963		26	33	0	0	0	1	0	26	33					C	127608035	G	C	127608035	3	2	239	1	0	0	0	0	1	0	0	0	13448	943	33	4	276	4	RNF146	6	127608035	Missense_Mutation	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08	70570507	127608035	43507032	9	5155	24	2									
RNF146	81847	broad.mit.edu	37	chr6	127608036	127608036	+	Missense_Mutation	SNP	A	A	T													aaccttgttgtcaccagaagAactcaaggcagcaagtagag							TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr6:127608036A>T	ENST00000368314.1	+	3	702	c.278A>T	c.(277-279)gAa>gTa	p.E93V	RNF146_ENST00000480444.1_3'UTR|RNF146_ENST00000608991.1_Missense_Mutation_p.E92V|RNF146_ENST00000356799.2_3'UTR|RNF146_ENST00000309649.3_Missense_Mutation_p.E92V|RNF146_ENST00000476956.1_3'UTR|RNF146_ENST00000489534.1_3'UTR|RNF146_ENST00000610153.1_Missense_Mutation_p.E93V	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	93	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly-ADP-D-ribose binding (GO:0072572)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		TCACCAGAAGAACTCAAGGCA	0.463																																						ENST00000368314.1																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10						c.(277-279)gAa>gTa		ring finger protein 146							78	73	75					6																	127608036		2203	4300	6503	SO:0001583	missense	81847				positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:127608036A>T	AK027558	CCDS5136.1, CCDS56449.1	6q22.1-q22.33	2008-02-05			ENSG00000118518	ENSG00000118518		"RING-type (C3HC4) zinc fingers"	21336	protein-coding gene	gene with protein product		612137					Standard	NM_001242844		Approved	DKFZp434O1427, dactylidin, dJ351K20.1	uc021zes.1	Q9NTX7	OTTHUMG00000015522	ENST00000368314.1:c.278A>T	6.37:g.127608036A>T	ENSP00000357297:p.Glu93Val					RNF146_ENST00000309649.3_Missense_Mutation_p.E92V|RNF146_ENST00000356799.2_Missense_Mutation_p.E92V|RNF146_ENST00000476956.1_3'UTR	p.E93V	NM_001242849.1|NM_001242850.1|NM_001242851.1	NP_001229778.1|NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN		GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)	3	702	+			93			WWE.		E1P572|Q6FIB2|Q7L8H4|Q96K03|Q96T06|Q9NTX6	Missense_Mutation	SNP	ENST00000368314.1	37	c.278A>T	CCDS56449.1	.	.	.	.	.	.	.	.	.	.	A	18.47	3.630119	0.67015	.	.	ENSG00000118518	ENST00000368314;ENST00000356799;ENST00000309649	T;T;T	0.28666	1.6;1.6;1.6	5.8	5.8	0.92144	WWE domain (1);	0.000000	0.85682	D	0.000000	T	0.32010	0.0815	L	0.43152	1.355	0.80722	D	1	D	0.69078	0.997	P	0.57009	0.811	T	0.02942	-1.1091	10	0.42905	T	0.14	0.242	16.1639	0.81739	1.0:0.0:0.0:0.0	.	93	Q9NTX7	RN146_HUMAN	V	93;92;92	ENSP00000357297:E93V;ENSP00000349253:E92V;ENSP00000309365:E92V	ENSP00000309365:E92V	E	+	2	0	RNF146	127649729	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.178000	0.71968	2.219000	0.72066	0.533000	0.62120	GAA		0.463	RNF146-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042112.1	NM_030963		27	32	0	0	0	1	0	27	32					T	127608036	A	T	127608036	3	4	239	1	0	0	0	0	1	0	0	0	13448	246	9	5	277	5	RNF146	6	127608036	Missense_Mutation	SNP	A	TCGA-EL-A3T7-01A-11D-A22D-08	1	127608036	43507031	10	5156	24	2									
FAM40B	57464	broad.mit.edu	37	chr7	129102860	129102860	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctctaccagggaatgctGtacagccttccgcagtatat	8	12	1	0			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr7:129102860G>A	ENST00000249344.2	+	14	1570	c.1530G>A	c.(1528-1530)ctG>ctA	p.L510L	STRIP2_ENST00000435494.2_Silent_p.L510L	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	510					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											AGGGAATGCTGTACAGCCTTC	0.507																																						ENST00000249344.2																			0											c.(1528-1530)ctG>ctA		striatin interacting protein 2							99	88	92					7																	129102860		2203	4300	6503	SO:0001819	synonymous_variant	57464							g.chr7:129102860G>A	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"FAR11 factor arrest 11 homolog B (yeast)"		"family with sequence similarity 40, member B"	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.1530G>A	7.37:g.129102860G>A						STRIP2_ENST00000435494.2_Silent_p.L510L	p.L510L	NM_020704.2	NP_065755.1					14	1570	+								Q8WUZ4	Silent	SNP	ENST00000249344.2	37	c.1530G>A	CCDS34752.1																																																																																				0.507	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336		4	83	0	0	0	1	0	4	83					A	129102860	G	A	129102860	2	1	239	1	0	0	0	0	0	0	0	1	5561	1364	48	2		2	FAM40B	7	129102860	Silent	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08		129102860	30035803	11	5157											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		45	72	0	0	0	1	0	45	72					T	140453136	A	T	140453136	3	4	239	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3T7-01A-11D-A22D-08	11350276	140453136	18685527	12	5158											
CD163	9332	broad.mit.edu	37	chr12	7649609	7649609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgcttgcatgccacagcaGcatcgtaactgtcccagccg	10	14	0	0			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr12:7649609G>A	ENST00000359156.4	-	5	1101	c.899C>T	c.(898-900)gCt>gTt	p.A300V	CD163_ENST00000432237.2_Missense_Mutation_p.A300V|CD163_ENST00000541972.1_Missense_Mutation_p.A288V|CD163_ENST00000396620.3_Missense_Mutation_p.A300V	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	300	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	TGCCACAGCAGCATCGTAACT	0.498																																						ENST00000359156.4																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(898-900)gCt>gTt		CD163 molecule							192	143	159					12																	7649609		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7649609G>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.899C>T	12.37:g.7649609G>A	ENSP00000352071:p.Ala300Val					CD163_ENST00000541972.1_Missense_Mutation_p.A288V|CD163_ENST00000396620.3_Missense_Mutation_p.A300V|CD163_ENST00000432237.2_Missense_Mutation_p.A300V	p.A300V	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			5	1101	-			300			SRCR 3.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.899C>T	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118289	0.56505	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	4.86	3.97	0.46021	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.075154	0.56097	D	0.000039	T	0.66771	0.2823	M	0.82056	2.57	0.46542	D	0.999099	D;P;D	0.89917	1.0;0.923;1.0	D;B;D	0.79784	0.993;0.397;0.993	T	0.67360	-0.5690	10	0.39692	T	0.17	.	11.2623	0.49091	0.0908:0.0:0.9092:0.0	.	300;300;300	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	V	300;288;300;300	ENSP00000352071:A300V;ENSP00000444071:A288V;ENSP00000379863:A300V;ENSP00000403885:A300V	ENSP00000352071:A300V	A	-	2	0	CD163	7540876	1.000000	0.71417	0.809000	0.32408	0.322000	0.28314	5.408000	0.66368	1.199000	0.43173	0.456000	0.33151	GCT		0.498	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		3	129	0	0	0	1	0	3	129					A	7649609	G	A	7649609	3	1	239	1	0	0	0	0	1	0	0	0	2967	971	34	2	2619	2	CD163	12	7649609	Missense_Mutation	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08		7649609	126202286	13	5159											
ARIH1	25820	broad.mit.edu	37	chr15	72767235	72767235	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggcggcggcggcggcggCggtggtggtggcgggccggg	28	10	0	0			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr15:72767235C>T	ENST00000379887.4	+	1	569	c.255C>T	c.(253-255)ggC>ggT	p.G85G	RP11-1007O24.3_ENST00000565181.1_lincRNA	NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	85	Gly-rich.				cytokine-mediated signaling pathway (GO:0019221)|protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ubiquitin ligase complex (GO:0000151)	small conjugating protein ligase activity (GO:0019787)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						gcggcggcggcggtggtggtg	0.736																																						ENST00000379887.4																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						c.(253-255)ggC>ggT		ariadne RBR E3 ubiquitin protein ligase 1							4	3	3					15																	72767235		1491	2998	4489	SO:0001819	synonymous_variant	25820				ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:72767235C>T	AF072832	CCDS10244.1	15q24	2013-10-03	2013-10-03		ENSG00000166233	ENSG00000166233			689	protein-coding gene	gene with protein product	"ariadne, Drosophila, homolog of"	605624	"ariadne (Drosophila) homolog, ubiquitin-conjugating enzyme E2-binding protein, 1", "ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila)"			10521492, 24058416	Standard	NM_005744		Approved	HARI, HHARI, UBCH7BP, ARI	uc002aut.4	Q9Y4X5	OTTHUMG00000133474	ENST00000379887.4:c.255C>T	15.37:g.72767235C>T						RP11-1007O24.3_ENST00000565181.1_lincRNA	p.G85G	NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN			1	569	+			85			Gly-rich.		B2R6U3|O76026|Q9H3T6|Q9UEN0|Q9UP39	Silent	SNP	ENST00000379887.4	37	c.255C>T	CCDS10244.1																																																																																				0.736	ARIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257350.1	NM_005744		4	23	0	0	0	1	0	4	23					T	72767235	C	T	72767235	2	4	239	1	0	0	0	0	0	0	0	1	923	755	27	1		1	ARIH1	15	72767235	Silent	SNP	C	TCGA-EL-A3T7-01A-11D-A22D-08		72767235	29764157	14	5160											
VPS33B	26276	broad.mit.edu	37	chr15	91565471	91565471	+	Frame_Shift_Del	DEL	A	A	-													ggggcgtccggccgatggggAaaagccatggcagcggtcac							TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr15:91565471delA	ENST00000333371.3	-	1	362	c.9delT	c.(7-9)tttfs	p.F3fs	VPS33B_ENST00000535843.1_5'UTR|VPS33B_ENST00000535906.1_Frame_Shift_Del_p.F3fs|AC068831.10_ENST00000556904.1_RNA|AC068831.10_ENST00000417221.4_RNA|VPS33B_ENST00000557358.1_5'UTR|AC068831.10_ENST00000557804.1_RNA|AC068831.10_ENST00000501381.3_RNA	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	3					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					GCCGATGGGGAAAAGCCATGG	0.652																																						ENST00000333371.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16						c.(7-9)ttfs		vacuolar protein sorting 33 homolog B (yeast)							17	15	16					15																	91565471		2187	4286	6473	SO:0001589	frameshift_variant	26276				cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding	g.chr15:91565471delA	AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"vacuolar protein sorting 33B (yeast homolog)"			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.9delT	15.37:g.91565471delA	ENSP00000327650:p.Phe3fs					VPS33B_ENST00000535906.1_Frame_Shift_Del_p.F3fs|VPS33B_ENST00000535843.1_5'UTR|VPS33B_ENST00000557358.1_5'UTR	p.F3fs	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN			1	362	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		3					B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Frame_Shift_Del	DEL	ENST00000333371.3	37	c.9delT	CCDS10369.1																																																																																				0.652	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313496.1	NM_018668		2	4						2	4	---	---	---	---	-	91565471	A	-	91565471	7	5	239	1	0	1	0	1	0	0	0	0	17199	243	9	0	1936	0	VPS33B	15	91565471	Frame_Shift_Del	DEL	A	TCGA-EL-A3T7-01A-11D-A22D-08	18798236	91565471	10965921	15	5161											
JMJD5	79831	broad.mit.edu	37	chr16	27230341	27230341	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcctgggcgatggggaGgaggaggaaatcaccatcaa	16	8	2	0	rs549622164		TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr16:27230341G>A	ENST00000286096.4	+	6	1076	c.903G>A	c.(901-903)gaG>gaA	p.E301E	KDM8_ENST00000441782.2_Silent_p.E339E|KDM8_ENST00000380948.2_Intron|KDM8_ENST00000567785.1_3'UTR|KDM8_ENST00000568965.1_Intron	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN	lysine (K)-specific demethylase 8	301	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				G2/M transition of mitotic cell cycle (GO:0000086)|histone H3-K36 demethylation (GO:0070544)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (H3-K36 specific) (GO:0051864)|metal ion binding (GO:0046872)										GCGATGGGGAGGAGGAGGAAA	0.582													G|||	1	0.000199681	8e-04	0	5008	,	,		17241	0		0	False		,,,				2504	0					ENST00000286096.4																			0											c.(901-903)gaG>gaA		lysine (K)-specific demethylase 8							174	135	148					16																	27230341		2197	4300	6497	SO:0001819	synonymous_variant	79831				G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:27230341G>A	AK023860	CCDS10627.1, CCDS45448.1	16p12.1	2012-03-28	2012-03-28	2012-03-28	ENSG00000155666	ENSG00000155666		"Chromatin-modifying enzymes / K-demethylases"	25840	protein-coding gene	gene with protein product		611917	"jumonji domain containing 5"	JMJD5		20457893	Standard	NM_024773		Approved	FLJ13798	uc010vcn.1	Q8N371	OTTHUMG00000131677	ENST00000286096.4:c.903G>A	16.37:g.27230341G>A						KDM8_ENST00000441782.2_Silent_p.E339E|KDM8_ENST00000567785.1_3'UTR|KDM8_ENST00000568965.1_Intron|KDM8_ENST00000380948.2_Intron	p.E301E	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN			6	1076	+			301			JmjC.		B4DLU9|Q6VAK5|Q9H8B1	Silent	SNP	ENST00000286096.4	37	c.903G>A	CCDS10627.1																																																																																				0.582	KDM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254580.3	NM_024773		4	139	0	0	0	1	0	4	139					A	27230341	G	A	27230341	2	1	239	1	0	0	0	0	0	0	0	1	7952	991	35	2		2	JMJD5	16	27230341	Silent	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08		27230341	63124412	16	5162											
TPPP3	51673	broad.mit.edu	37	chr16	67424874	67424874	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcggtccctgtcacggacttTccgtcagccaccttgcagtc	9	16	2	0			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr16:67424874T>A	ENST00000564104.1	-	1	982	c.141A>T	c.(139-141)ggA>ggT	p.G47G	TPPP3_ENST00000290942.5_Silent_p.G47G|TPPP3_ENST00000562206.1_Silent_p.G47G|TPPP3_ENST00000393957.2_Silent_p.G47G|RNU1-123P_ENST00000458950.1_RNA			Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family member 3	47					microtubule bundle formation (GO:0001578)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	tubulin binding (GO:0015631)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		TCACGGACTTTCCGTCAGCCA	0.572																																						ENST00000564104.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7						c.(139-141)ggA>ggT		tubulin polymerization-promoting protein family member 3							151	115	127					16																	67424874		2198	4300	6498	SO:0001819	synonymous_variant	51673				microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding	g.chr16:67424874T>A	BC000691	CCDS10835.1	16q22.1	2008-02-05			ENSG00000159713	ENSG00000159713			24162	protein-coding gene	gene with protein product						15590652, 17105200	Standard	XM_005255979		Approved	CGI-38, p25gamma, p20	uc002etb.3	Q9BW30	OTTHUMG00000137516	ENST00000564104.1:c.141A>T	16.37:g.67424874T>A						TPPP3_ENST00000562206.1_Silent_p.G47G|TPPP3_ENST00000393957.2_Silent_p.G47G|TPPP3_ENST00000290942.5_Silent_p.G47G	p.G47G			Q9BW30	TPPP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)	1	982	-		Ovarian(137;0.0563)	47					Q49AH9|Q9Y326|Q9Y6H0	Silent	SNP	ENST00000564104.1	37	c.141A>T	CCDS10835.1																																																																																				0.572	TPPP3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421787.2	NM_015964		23	76	0	0	0	1	0	23	76					A	67424874	T	A	67424874	2	1	239	1	0	0	0	0	0	0	0	1	16412	1770	62	5		5	TPPP3	16	67424874	Silent	SNP	T	TCGA-EL-A3T7-01A-11D-A22D-08	40194533	67424874	22929879	17	5163											
SUPT6H	6830	broad.mit.edu	37	chr17	27020729	27020729	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttcaggtgtggaaccactttGacagcggttcgtgcccaggc	13	11	1	1			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr17:27020729G>C	ENST00000314616.6	+	28	3932	c.3649G>C	c.(3649-3651)Gac>Cac	p.D1217H	SUPT6H_ENST00000347486.4_Missense_Mutation_p.D1217H	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1217	Interaction with KDM6A. {ECO:0000250}.|S1 motif. {ECO:0000255|PROSITE- ProRule:PRU00180}.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GAACCACTTTGACAGCGGTTC	0.502																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3649-3651)Gac>Cac		suppressor of Ty 6 homolog (S. cerevisiae)							117	103	108					17																	27020729		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27020729G>C	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.3649G>C	17.37:g.27020729G>C	ENSP00000319104:p.Asp1217His					SUPT6H_ENST00000347486.4_Missense_Mutation_p.D1217H	p.D1217H	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			28	3932	+	Lung NSC(42;0.00431)		1217			S1 motif.		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.3649G>C	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856715	0.91433	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.72526	0.3471	M	0.73598	2.24	0.80722	D	1	D	0.58620	0.983	P	0.49085	0.6	T	0.76342	-0.2994	9	0.87932	D	0	-27.8683	20.0989	0.97860	0.0:0.0:1.0:0.0	.	1217	Q7KZ85	SPT6H_HUMAN	H	1217	.	ENSP00000319104:D1217H	D	+	1	0	SUPT6H	24044856	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.121000	0.94375	2.764000	0.94973	0.650000	0.86243	GAC		0.502	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		25	78	0	0	0	1	0	25	78					C	27020729	G	C	27020729	3	2	239	1	0	0	0	0	1	0	0	0	15397	1290	45	4	3755	4	SUPT6H	17	27020729	Missense_Mutation	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08		27020729	54174481	18	5164											
ACE	1636	broad.mit.edu	37	chr17	61566087	61566087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctggcgagacaaggcggGgagagccatcctccagtttt	16	10	0	2			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr17:61566087G>A	ENST00000290866.4	+	16	2408	c.2384G>A	c.(2383-2385)gGg>gAg	p.G795E	ACE_ENST00000428043.1_Missense_Mutation_p.G795E|ACE_ENST00000290863.6_Missense_Mutation_p.G221E|ACE_ENST00000421982.2_Missense_Mutation_p.G105E|ACE_ENST00000413513.3_Missense_Mutation_p.G221E|ACE_ENST00000577647.1_Missense_Mutation_p.G221E|ACE_ENST00000490216.2_Missense_Mutation_p.G221E	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	795	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GACAAGGCGGGGAGAGCCATC	0.557																																						ENST00000577647.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(661-663)gGg>gAg		angiotensin I converting enzyme	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						120	106	111					17																	61566087		2203	4300	6503	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61566087G>A	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"CD molecules"	2707	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	106180	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.2384G>A	17.37:g.61566087G>A	ENSP00000290866:p.Gly795Glu					ACE_ENST00000290863.6_Missense_Mutation_p.G221E|ACE_ENST00000490216.2_Missense_Mutation_p.G221E|ACE_ENST00000421982.2_Missense_Mutation_p.G105E|ACE_ENST00000290866.4_Missense_Mutation_p.G795E|ACE_ENST00000413513.3_Missense_Mutation_p.G221E|ACE_ENST00000428043.1_Missense_Mutation_p.G795E	p.G221E			P12821	ACE_HUMAN			5	707	+			795			Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.662G>A	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.864849	0.32977	.	.	ENSG00000159640	ENST00000290866;ENST00000428043;ENST00000290863;ENST00000413513;ENST00000421982	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;1.18	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.83266	0.5217	H	0.97440	4.005	0.39222	D	0.963523	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.97110	1.0;0.993;0.998;1.0	D	0.89300	0.3625	10	0.87932	D	0	-48.9288	18.5243	0.90965	0.0:0.0:1.0:0.0	.	105;221;221;795	F6X3S4;B4DXI3;P12821-3;P12821	.;.;.;ACE_HUMAN	E	795;795;221;221;105	ENSP00000290866:G795E;ENSP00000397593:G795E;ENSP00000290863:G221E;ENSP00000392247:G221E;ENSP00000387760:G105E	ENSP00000290863:G221E	G	+	2	0	ACE	58919819	1.000000	0.71417	0.971000	0.41717	0.014000	0.08584	8.234000	0.89801	2.815000	0.96918	0.561000	0.74099	GGG		0.557	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			3	148	0	0	0	1	0	3	148					A	61566087	G	A	61566087	3	1	239	1	0	0	0	0	1	0	0	0	136	1232	43	2	2649	2	ACE	17	61566087	Missense_Mutation	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08	34545358	61566087	19629123	19	5165											
CHAF1A	10036	broad.mit.edu	37	chr19	4433112	4433112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacggcaatgtgaacgggaGcaaggtcatcatccgggagt	15	9	2	1			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr19:4433112G>A	ENST00000301280.5	+	13	2350	c.2249G>A	c.(2248-2250)aGc>aAc	p.S750N	CTB-50L17.5_ENST00000590159.1_RNA|CHAF1A_ENST00000587368.1_3'UTR	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	750	Binds to p60.				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)		GTGAACGGGAGCAAGGTCATC	0.667								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.(2248-2250)aGc>aAc	Chromatin Structure	chromatin assembly factor 1, subunit A (p150)							24	24	24					19																	4433112		2199	4299	6498	SO:0001583	missense	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.chr19:4433112G>A	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.2249G>A	19.37:g.4433112G>A	ENSP00000301280:p.Ser750Asn					CHAF1A_ENST00000587368.1_3'UTR	p.S750N	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)	13	2350	+		Hepatocellular(1079;0.137)	750			Binds to p60.		Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	c.2249G>A	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165949	0.78339	.	.	ENSG00000167670	ENST00000535117;ENST00000301280	T	0.30981	1.51	5.33	5.33	0.75918	.	.	.	.	.	T	0.38612	0.1047	L	0.55103	1.725	0.54753	D	0.999985	P	0.40660	0.726	B	0.43386	0.418	T	0.30851	-0.9964	9	0.87932	D	0	-38.5057	18.0297	0.89279	0.0:0.0:1.0:0.0	.	750	Q13111	CAF1A_HUMAN	N	750	ENSP00000301280:S750N	ENSP00000301280:S750N	S	+	2	0	CHAF1A	4384112	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.119000	0.71590	2.485000	0.83878	0.655000	0.94253	AGC		0.667	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		3	40	0	0	0	1	0	3	40					A	4433112	G	A	4433112	3	1	239	1	0	0	0	0	1	0	0	0	3311	971	34	2	2299	2	CHAF1A	19	4433112	Missense_Mutation	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08		4433112	54695871	20	5166											
SCN1B	6324	broad.mit.edu	37	chr19	35523482	35523482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggactcggagaccgaggccGtgtatgggatgaccttcaaa	14	9	1	2	rs368129661		TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr19:35523482G>A	ENST00000262631.5	+	2	228	c.91G>A	c.(91-93)Gtg>Atg	p.V31M	SCN1B_ENST00000596348.1_3'UTR|SCN1B_ENST00000415950.3_Missense_Mutation_p.V31M|SCN1B_ENST00000595652.1_Missense_Mutation_p.V31M	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	31	Ig-like C2-type.				axon guidance (GO:0007411)|cardiac conduction (GO:0061337)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|corticospinal neuron axon guidance (GO:0021966)|locomotion (GO:0040011)|membrane depolarization (GO:0051899)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during Purkinje myocyte cell action potential (GO:0086047)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|intercalated disc (GO:0014704)|node of Ranvier (GO:0033268)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)|voltage-gated sodium channel activity involved in Purkinje myocyte action potential (GO:0086062)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Valproic Acid(DB00313)|Zonisamide(DB00909)	GACCGAGGCCGTGTATGGGAT	0.622																																						ENST00000262631.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11						c.(91-93)Gtg>Atg		sodium channel, voltage-gated, type I, beta subunit		G	MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	130	125	127		91,91	3.8	1.0	19		127	0,8600		0,0,4300	no	missense,missense	SCN1B	NM_001037.4,NM_199037.3	21,21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	31/219,31/269	35523482	1,13005	2203	4300	6503	SO:0001583	missense	6324				axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity	g.chr19:35523482G>A		CCDS12441.1, CCDS46047.1	19q13.12	2014-09-17	2012-02-28		ENSG00000105711	ENSG00000105711		"Sodium channels", "Voltage-gated ion channels / Sodium channels", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10586	protein-coding gene	gene with protein product		600235	"sodium channel, voltage-gated, type I, beta polypeptide", "sodium channel, voltage-gated, type I, beta"			8394762	Standard	NM_001037		Approved		uc002nxo.2	Q07699	OTTHUMG00000182472	ENST00000262631.5:c.91G>A	19.37:g.35523482G>A	ENSP00000262631:p.Val31Met					SCN1B_ENST00000596348.1_3'UTR|SCN1B_ENST00000595652.1_Missense_Mutation_p.V31M|SCN1B_ENST00000415950.3_Missense_Mutation_p.V31M	p.V31M	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		2	228	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		31			Ig-like C2-type.		Q5TZZ4|Q6TN97	Missense_Mutation	SNP	ENST00000262631.5	37	c.91G>A	CCDS12441.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.343136	0.61073	2.27E-4	0.0	ENSG00000105711	ENST00000262631;ENST00000415950	D;D	0.94758	-3.51;-3.51	3.82	3.82	0.43975	Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	D	0.95999	0.8697	M	0.62723	1.935	0.58432	D	0.999998	D;D;D	0.89917	0.996;1.0;1.0	D;D;D	0.91635	0.927;0.988;0.999	D	0.95842	0.8867	10	0.72032	D	0.01	-29.9484	11.0836	0.48074	0.0:0.0:1.0:0.0	.	31;31;31	B4DI92;Q07699;Q07699-2	.;SCN1B_HUMAN;.	M	31	ENSP00000262631:V31M;ENSP00000396915:V31M	ENSP00000262631:V31M	V	+	1	0	SCN1B	40215322	1.000000	0.71417	1.000000	0.80357	0.271000	0.26615	8.413000	0.90235	1.969000	0.57287	0.563000	0.77884	GTG		0.622	SCN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461567.1			4	201	0	0	0	1	0	4	201					A	35523482	G	A	35523482	3	1	239	1	0	0	0	0	1	0	0	0	13915	1145	40	1	97	1	SCN1B	19	35523482	Missense_Mutation	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08	31090370	35523482	23605501	21	5167											
PPP1R13L	10848	broad.mit.edu	37	chr19	45901354	45901354	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagttcatccaccttggccGccgccgtgtccagctccatc	8	18	2	0			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr19:45901354G>A	ENST00000418234.2	-	3	185	c.107C>T	c.(106-108)gCg>gTg	p.A36V	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.A36V	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	36					apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CACCTTGGCCGCCGCCGTGTC	0.652																																					Pancreas(61;1447 1663 31419 50578)	ENST00000418234.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(106-108)gCg>gTg		protein phosphatase 1, regulatory subunit 13 like							55	55	55					19																	45901354		2203	4300	6503	SO:0001583	missense	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45901354G>A	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"Ankyrin repeat domain containing"	18838	protein-coding gene	gene with protein product		607463	"protein phosphatase 1, regulatory (inhibitor) subunit 13 like"			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.107C>T	19.37:g.45901354G>A	ENSP00000403902:p.Ala36Val					PPP1R13L_ENST00000360957.5_Missense_Mutation_p.A36V	p.A36V	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	3	185	-		all_neural(266;0.224)|Ovarian(192;0.231)	36					Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP	ENST00000418234.2	37	c.107C>T	CCDS33050.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758763	0.69763	.	.	ENSG00000104881	ENST00000418234;ENST00000360957	T;T	0.58652	0.32;0.32	4.31	2.17	0.27698	.	0.549764	0.19686	N	0.108386	T	0.28333	0.0700	L	0.27053	0.805	0.26311	N	0.97782	P;B	0.45902	0.868;0.014	B;B	0.24269	0.052;0.002	T	0.21381	-1.0247	10	0.14252	T	0.57	.	6.6105	0.22749	0.2208:0.0:0.7792:0.0	.	36;36	Q6ZNZ8;Q8WUF5	.;IASPP_HUMAN	V	36	ENSP00000403902:A36V;ENSP00000354218:A36V	ENSP00000354218:A36V	A	-	2	0	PPP1R13L	50593194	0.898000	0.30612	0.957000	0.39632	0.927000	0.56198	1.607000	0.36836	0.569000	0.29329	0.563000	0.77884	GCG		0.652	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		3	117	0	0	0	1	0	3	117					A	45901354	G	A	45901354	3	1	239	1	0	0	0	0	1	0	0	0	12358	1087	38	1	2423	1	PPP1R13L	19	45901354	Missense_Mutation	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08	10377872	45901354	13227629	22	5168											
SGSM3	57591	broad.mit.edu	37	chr22	40805710	40805710	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagcccctgaaggagggcGtccgggacatgctggtgaag	17	10	0	2	rs199770532		TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr22:40805710G>A	ENST00000355630.3	-	0	4496				SGSM3_ENST00000248929.9_Missense_Mutation_p.V733I	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1						negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GAAGGAGGGCGTCCGGGACAT	0.662			T	RBM15	acute megakaryocytic leukemia																																	ENST00000248929.9				Dom	yes		22	22q13	57591		megakaryoblastic leukemia (translocation) 1			L					0				cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						c.(2197-2199)Gtc>Atc		small G protein signaling modulator 3			ILE/VAL	0,4406		0,0,2203	88	91	90		2197	4.8	0.8	22		90	2,8598	1.2+/-3.3	0,2,4298	yes	missense	SGSM3	NM_015705.4	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	733/750	40805710	2,13004	2203	4300	6503	SO:0001628	intergenic_variant	27352				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding	g.chr22:40805710G>A	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"megakaryocytic acute leukemia", "myocardin-related transcription factor A", "basic, SAP and coiled-coil domain"	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146		22.37:g.40805710G>A							p.V733I	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN			22	2386	+			733					Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.2197G>A	CCDS14003.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	16.10|16.10	3.028398|3.028398	0.54790|0.54790	0.0|0.0	2.33E-4|2.33E-4	ENSG00000100359|ENSG00000100359	ENST00000417424|ENST00000248929	.|T	.|0.16597	.|2.33	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.35740|0.35740	0.0942|0.0942	L|L	0.55990|0.55990	1.75|1.75	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.67145	.|0.996;0.996;0.979	.|P;P;P	.|0.60541	.|0.572;0.876;0.638	T|T	0.10823|0.10823	-1.0613|-1.0613	5|10	.|0.72032	.|D	.|0.01	.|.	18.3415|18.3415	0.90307|0.90307	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|644;761;733	.|B4DVE3;Q96HU1-2;Q96HU1	.|.;.;SGSM3_HUMAN	H|I	85|733	.|ENSP00000248929:V733I	.|ENSP00000248929:V733I	R|V	+|+	2|1	0|0	SGSM3|SGSM3	39135656|39135656	1.000000|1.000000	0.71417|0.71417	0.819000|0.819000	0.32651|0.32651	0.141000|0.141000	0.21300|0.21300	7.138000|7.138000	0.77305|0.77305	2.410000|2.410000	0.81850|0.81850	0.558000|0.558000	0.71614|0.71614	CGT|GTC		0.662	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		4	169	0	0	0	1	0	4	169					A	40805710	G	A	40805710	1	1	239	0	1	0	0	0	0	0	0	0	14224	1145	40	1		1	SGSM3	22	40805710	IGR	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08		40805710	10498856	23	5169											
SYTL4	94121	broad.mit.edu	37	chrX	99955909	99955909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacctgggctccttctgccGctcctgaatgatctttcttc	7	14	3	2			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chrX:99955909G>A	ENST00000372989.1	-	7	854	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	SYTL4_ENST00000455616.1_Missense_Mutation_p.R175W|SYTL4_ENST00000263033.5_Missense_Mutation_p.R175W|SYTL4_ENST00000454200.2_Missense_Mutation_p.R175W|SYTL4_ENST00000372981.1_Missense_Mutation_p.R175W|SYTL4_ENST00000276141.6_Missense_Mutation_p.R175W	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	175					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""Insulin(DB00071)|Insulin Regular(DB00030)"	TCCTTCTGCCGCTCCTGAATG	0.388																																						ENST00000372981.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27						c.(523-525)Cgg>Tgg		synaptotagmin-like 4	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						130	117	121					X																	99955909		2203	4300	6503	SO:0001583	missense	94121				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding	g.chrX:99955909G>A		CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"granuphilin-a", "exophilin-2"	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.523C>T	X.37:g.99955909G>A	ENSP00000362080:p.Arg175Trp					SYTL4_ENST00000372989.1_Missense_Mutation_p.R175W|SYTL4_ENST00000454200.2_Missense_Mutation_p.R175W|SYTL4_ENST00000455616.1_Missense_Mutation_p.R175W|SYTL4_ENST00000276141.6_Missense_Mutation_p.R175W|SYTL4_ENST00000263033.5_Missense_Mutation_p.R175W	p.R175W			Q96C24	SYTL4_HUMAN			5	709	-			175					Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP	ENST00000372989.1	37	c.523C>T	CCDS14472.1	.	.	.	.	.	.	.	.	.	.	g	11.59	1.682548	0.29872	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033;ENST00000372981	T;T;T;T;T;T	0.64803	2.01;2.01;2.0;2.01;2.01;-0.12	5.78	5.78	0.91487	.	0.462954	0.25708	N	0.028821	T	0.57051	0.2027	N	0.14661	0.345	0.31079	N	0.712174	D;D	0.69078	0.997;0.971	P;B	0.52856	0.711;0.216	T	0.59883	-0.7370	9	.	.	.	-6.1752	16.7516	0.85488	0.0:0.0:1.0:0.0	.	175;175	Q96C24-2;Q96C24	.;SYTL4_HUMAN	W	175	ENSP00000362080:R175W;ENSP00000390252:R175W;ENSP00000403556:R175W;ENSP00000276141:R175W;ENSP00000263033:R175W;ENSP00000362072:R175W	.	R	-	1	2	SYTL4	99842565	0.997000	0.39634	0.703000	0.30354	0.009000	0.06853	4.136000	0.58004	2.432000	0.82394	0.591000	0.81541	CGG		0.388	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737		17	206	0	0	0	1	0	17	206					A	99955909	G	A	99955909	3	1	239	1	0	0	0	0	1	0	0	0	15482	1086	38	1	1544	1	SYTL4	23	99955909	Missense_Mutation	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08		99955909	55314651	24	5170											
AGPS	8540	broad.mit.edu	37	chr2	178307134	178307134	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgtttcctattttggcaGgaggaacaagtgtttcatat	10	5	1	0			TCGA-EL-A3T8-01A-21D-A22D-08	TCGA-EL-A3T8-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47a0cb63-dd19-49fe-983d-a2e786795355	e475f95d-8efb-4df4-9682-9608c5081ea7	g.chr2:178307134G>A	ENST00000264167.4	+	7	855		c.e7-1		AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase						cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			TATTTTGGCAGGAGGAACAAG	0.333																																						ENST00000264167.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32						c.e7-1		alkylglycerone phosphate synthase							94	98	96					2																	178307134		2203	4300	6503	SO:0001630	splice_region_variant	8540				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity	g.chr2:178307134G>A	Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.710-1G>A	2.37:g.178307134G>A						AGPS_ENST00000409888.1_Intron		NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)		7	855	+								A5D8U9|Q2TU35	Splice_Site	SNP	ENST00000264167.4	37		CCDS2275.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390334	0.82902	.	.	ENSG00000018510	ENST00000264167;ENST00000536686	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8327	0.96642	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AGPS	178015380	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.056000	0.89455	2.779000	0.95612	0.643000	0.83706	.		0.333	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255730.2		Intron	3	87	0	0	0	1	0	3	87					A	178307134	G	A	178307134	5	1	240	1	0	0	0	0	0	0	1	0	394	1014	35	2	735	2	AGPS	2	178307134	Splice_Site	SNP	G	TCGA-EL-A3T8-01A-21D-A22D-08		178307134	64892239	1	5171											
FAM117B	150864	broad.mit.edu	37	chr2	203590986	203590986	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctcagattgcaaaattacGccagcagttgcagagaagta	9	8	1	2			TCGA-EL-A3T8-01A-21D-A22D-08	TCGA-EL-A3T8-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47a0cb63-dd19-49fe-983d-a2e786795355	e475f95d-8efb-4df4-9682-9608c5081ea7	g.chr2:203590986G>T	ENST00000392238.2	+	4	860	c.860G>T	c.(859-861)cGc>cTc	p.R287L	FAM117B_ENST00000303116.6_Missense_Mutation_p.R43L			Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	287										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						GCAAAATTACGCCAGCAGTTG	0.393																																						ENST00000303116.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						c.(127-129)cGc>cTc		family with sequence similarity 117, member B							126	121	123					2																	203590986		2203	4300	6503	SO:0001583	missense	150864							g.chr2:203590986G>T	AB053315	CCDS33362.1, CCDS33362.2	2q33	2008-08-18	2008-08-18	2008-08-18	ENSG00000138439	ENSG00000138439			14440	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 13"	ALS2CR13		11586298	Standard	NM_173511		Approved	FLJ38771	uc010zhx.2	Q6P1L5	OTTHUMG00000154550	ENST00000392238.2:c.860G>T	2.37:g.203590986G>T	ENSP00000376071:p.Arg287Leu					FAM117B_ENST00000392238.2_Missense_Mutation_p.R287L	p.R43L	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN			4	870	+			287			Gly-rich.		Q53QZ5|Q585T9|Q8N8W1|Q96Q34	Missense_Mutation	SNP	ENST00000392238.2	37	c.128G>T	CCDS33362.2	.	.	.	.	.	.	.	.	.	.	G	29.8	5.038610	0.93630	.	.	ENSG00000138439	ENST00000303116;ENST00000392238	.	.	.	5.71	5.71	0.89125	.	0.048721	0.85682	D	0.000000	T	0.78604	0.4309	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79271	-0.1872	9	0.72032	D	0.01	-11.0079	19.4656	0.94935	0.0:0.0:1.0:0.0	.	287	Q6P1L5	F117B_HUMAN	L	43;287	.	ENSP00000306299:R43L	R	+	2	0	FAM117B	203299231	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.451000	0.90343	2.691000	0.91804	0.563000	0.77884	CGC		0.393	FAM117B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335888.3	NM_173511		4	95	1	0	0.217242	1	0.217242	4	95					T	203590986	G	T	203590986	3	4	240	1	0	0	0	0	1	0	0	0	5410	1087	38	4	874	4	FAM117B	2	203590986	Missense_Mutation	SNP	G	TCGA-EL-A3T8-01A-21D-A22D-08	25283852	203590986	39608387	2	5172											
ZDBF2	57683	broad.mit.edu	37	chr2	207169562	207169562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgaggatgaggatgctaccGaagagagaccatccgaggtt	14	7	0	4			TCGA-EL-A3T8-01A-21D-A22D-08	TCGA-EL-A3T8-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47a0cb63-dd19-49fe-983d-a2e786795355	e475f95d-8efb-4df4-9682-9608c5081ea7	g.chr2:207169562G>A	ENST00000374423.3	+	5	696	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	104							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GGATGCTACCGAAGAGAGACC	0.458																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(310-312)Gaa>Aaa		zinc finger, DBF-type containing 2							84	81	82					2																	207169562		1969	4154	6123	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207169562G>A	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.310G>A	2.37:g.207169562G>A	ENSP00000363545:p.Glu104Lys						p.E104K	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	696	+			104					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.310G>A	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	7.932	0.740941	0.15642	.	.	ENSG00000204186	ENST00000374423	T	0.17370	2.28	4.68	2.72	0.32119	.	1.458410	0.04756	N	0.425444	T	0.06462	0.0166	N	0.14661	0.345	0.09310	N	1	P	0.45240	0.854	B	0.29524	0.103	T	0.11299	-1.0593	10	0.02654	T	1	.	5.1627	0.15070	0.1066:0.0:0.6893:0.204	.	104	Q9HCK1	ZDBF2_HUMAN	K	104	ENSP00000363545:E104K	ENSP00000363545:E104K	E	+	1	0	ZDBF2	206877807	0.023000	0.18921	0.002000	0.10522	0.002000	0.02628	0.663000	0.25053	1.110000	0.41699	0.650000	0.86243	GAA		0.458	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		17	30	0	0	0	1	0	17	30					A	207169562	G	A	207169562	3	1	240	1	0	0	0	0	1	0	0	0	17596	1059	37	1	320	1	ZDBF2	2	207169562	Missense_Mutation	SNP	G	TCGA-EL-A3T8-01A-21D-A22D-08	3578576	207169562	36029811	3	5173											
RBM28	55131	broad.mit.edu	37	chr7	127963614	127963614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatatcagcagcactcacaCcctctgcagccttcgtccca	5	19	3	0	rs553213737	byFrequency	TCGA-EL-A3T8-01A-21D-A22D-08	TCGA-EL-A3T8-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47a0cb63-dd19-49fe-983d-a2e786795355	e475f95d-8efb-4df4-9682-9608c5081ea7	g.chr7:127963614C>T	ENST00000223073.2	-	13	1484	c.1370G>A	c.(1369-1371)gGt>gAt	p.G457D	RBM28_ENST00000481788.1_5'Flank|RBM28_ENST00000415472.2_Missense_Mutation_p.G316D	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	457					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						AGCACTCACACCCTCTGCAGC	0.458													C|||	3	0.000599042	0	0	5008	,	,		23021	0		0	False		,,,				2504	0.0031					ENST00000223073.1																			0				breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						c.(1369-1371)gGt>gAt		RNA binding motif protein 28							219	197	204					7																	127963614		2203	4300	6503	SO:0001583	missense	55131				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	g.chr7:127963614C>T	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"RNA binding motif (RRM) containing"	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.1370G>A	7.37:g.127963614C>T	ENSP00000223073:p.Gly457Asp					RBM28_ENST00000415472.2_Missense_Mutation_p.G316D	p.G457D	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN			13	1484	-			457					A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	37	c.1370G>A	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776431	0.90195	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	T;T	0.22134	2.9;1.97	5.93	5.93	0.95920	.	0.138154	0.64402	D	0.000003	T	0.45377	0.1339	M	0.63208	1.945	0.80722	D	1	B;D;B	0.89917	0.243;1.0;0.243	B;D;B	0.91635	0.341;0.999;0.168	T	0.06391	-1.0829	10	0.37606	T	0.19	-14.6238	17.8347	0.88692	0.0:1.0:0.0:0.0	.	316;457;316	E9PDD9;Q9NW13;B4DU52	.;RBM28_HUMAN;.	D	457;316	ENSP00000223073:G457D;ENSP00000390517:G316D	ENSP00000223073:G457D	G	-	2	0	RBM28	127750850	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	6.476000	0.73587	2.814000	0.96858	0.655000	0.94253	GGT		0.458	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		6	140	0	0	0	1	0	6	140					T	127963614	C	T	127963614	3	4	240	1	0	0	0	0	1	0	0	0	13128	507	18	2	937	2	RBM28	7	127963614	Missense_Mutation	SNP	C	TCGA-EL-A3T8-01A-21D-A22D-08		127963614	31175049	4	5174											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3T8-01A-21D-A22D-08	TCGA-EL-A3T8-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47a0cb63-dd19-49fe-983d-a2e786795355	e475f95d-8efb-4df4-9682-9608c5081ea7	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		31	48	0	0	0	1	0	31	48					T	140453136	A	T	140453136	3	4	240	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3T8-01A-21D-A22D-08	12489522	140453136	18685527	5	5175											
ATP6V1C1	528	broad.mit.edu	37	chr8	104066176	104066176	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgactttgttcttgattcaGagtatctcgtcacattactg	7	8	4	3			TCGA-EL-A3T8-01A-21D-A22D-08	TCGA-EL-A3T8-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47a0cb63-dd19-49fe-983d-a2e786795355	e475f95d-8efb-4df4-9682-9608c5081ea7	g.chr8:104066176G>A	ENST00000395862.3	+	7	697	c.538G>A	c.(538-540)Gag>Aag	p.E180K	ATP6V1C1_ENST00000518857.1_Missense_Mutation_p.E105K|ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.E180K|ATP6V1C1_ENST00000521514.1_Missense_Mutation_p.E105K	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1	180					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			TCTTGATTCAGAGTATCTCGT	0.308																																						ENST00000395862.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13						c.(538-540)Gag>Aag		ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1							161	155	157					8																	104066176		2203	4299	6502	SO:0001583	missense	528				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr8:104066176G>A	X69151	CCDS6296.1	8p22.3	2011-05-24	2006-01-13	2002-05-10	ENSG00000155097	ENSG00000155097	3.6.3.14	"ATPases / V-type"	856	protein-coding gene	gene with protein product		603097	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) 42kD", "ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C, isoform 1"	ATP6D, ATP6C		8250920, 14580332	Standard	NM_001695		Approved	VATC, Vma5	uc003ykz.4	P21283	OTTHUMG00000164761	ENST00000395862.3:c.538G>A	8.37:g.104066176G>A	ENSP00000379203:p.Glu180Lys					ATP6V1C1_ENST00000521514.1_Missense_Mutation_p.E105K|ATP6V1C1_ENST00000518857.1_Missense_Mutation_p.E105K|ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.E180K	p.E180K	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)		7	697	+	Lung NSC(17;0.000427)|all_lung(17;0.000533)		180						Missense_Mutation	SNP	ENST00000395862.3	37	c.538G>A	CCDS6296.1	.	.	.	.	.	.	.	.	.	.	G	36	5.755180	0.96898	.	.	ENSG00000155097	ENST00000518857;ENST00000395862;ENST00000521514;ENST00000518738	T;T;T;T	0.61510	0.1;0.1;0.1;0.1	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.83649	0.5300	H	0.97340	3.985	0.80722	D	1	D	0.54964	0.969	P	0.59595	0.86	D	0.89556	0.3803	10	0.87932	D	0	.	19.2989	0.94134	0.0:0.0:1.0:0.0	.	180	P21283	VATC1_HUMAN	K	105;180;105;180	ENSP00000428204:E105K;ENSP00000379203:E180K;ENSP00000430129:E105K;ENSP00000430282:E180K	ENSP00000379203:E180K	E	+	1	0	ATP6V1C1	104135352	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	8.001000	0.88508	2.563000	0.86464	0.655000	0.94253	GAG		0.308	ATP6V1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380101.1	NM_001695		7	82	0	0	0	1	0	7	82					A	104066176	G	A	104066176	3	1	240	1	0	0	0	0	1	0	0	0	1180	943	33	2	560	2	ATP6V1C1	8	104066176	Missense_Mutation	SNP	G	TCGA-EL-A3T8-01A-21D-A22D-08		104066176	42297846	6	5176											
SFMBT2	57713	broad.mit.edu	37	chr10	7242431	7242431	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaggtattttcttaacaggCactgtgggcggcaatctgtc	12	8	2	1			TCGA-EL-A3T8-01A-21D-A22D-08	TCGA-EL-A3T8-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47a0cb63-dd19-49fe-983d-a2e786795355	e475f95d-8efb-4df4-9682-9608c5081ea7	g.chr10:7242431C>A	ENST00000361972.4	-	14	1593	c.1503G>T	c.(1501-1503)gtG>gtT	p.V501V	SFMBT2_ENST00000397167.1_Silent_p.V501V	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	501					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TCTTAACAGGCACTGTGGGCG	0.438																																						ENST00000361972.4																			0				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						c.(1501-1503)gtG>gtT		Scm-like with four mbt domains 2							111	111	111					10																	7242431		2203	4300	6503	SO:0001819	synonymous_variant	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7242431C>A	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"Sterile alpha motif (SAM) domain containing"	20256	protein-coding gene	gene with protein product		615392	"Scm-related gene containing four mbt domains 2"			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1503G>T	10.37:g.7242431C>A						SFMBT2_ENST00000397167.1_Silent_p.V501V	p.V501V	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN			14	1593	-			501					A7MD09|Q9HCF5	Silent	SNP	ENST00000361972.4	37	c.1503G>T	CCDS31138.1																																																																																				0.438	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		28	36	1	0	1.06801e-11	1	1.20151e-11	28	36					A	7242431	C	A	7242431	2	1	240	1	0	0	0	0	0	0	0	1	14158	697	25	4		4	SFMBT2	10	7242431	Silent	SNP	C	TCGA-EL-A3T8-01A-21D-A22D-08		7242431	128292316	7	5177											
CDHR1	92211	broad.mit.edu	37	chr10	85972907	85972907	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	actattccatcacccatgcaGagcccgccaacgtgttcgac	7	16	1	1	rs144856473		TCGA-EL-A3T8-01A-21D-A22D-08	TCGA-EL-A3T8-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47a0cb63-dd19-49fe-983d-a2e786795355	e475f95d-8efb-4df4-9682-9608c5081ea7	g.chr10:85972907G>C	ENST00000372117.3	+	16	1946	c.1843G>C	c.(1843-1845)Gag>Cag	p.E615Q	CDHR1_ENST00000440770.2_Missense_Mutation_p.E319Q|CDHR1_ENST00000332904.3_Missense_Mutation_p.E615Q	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	615	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)	p.E615K(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CACCCATGCAGAGCCCGCCAA	0.572																																						ENST00000372117.3																			1	Substitution - Missense(1)	p.E615K(1)	lung(1)	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(1843-1845)Gag>Cag		cadherin-related family member 1							121	107	112					10																	85972907		2203	4300	6503	SO:0001583	missense	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85972907G>C	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"Cadherins / Cadherin-related"	14550	protein-coding gene	gene with protein product		609502	"protocadherin 21"	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1843G>C	10.37:g.85972907G>C	ENSP00000361189:p.Glu615Gln					CDHR1_ENST00000332904.3_Missense_Mutation_p.E615Q|CDHR1_ENST00000440770.2_Missense_Mutation_p.E319Q	p.E615Q	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN			16	1946	+			615			Cadherin 6.		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	c.1843G>C	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.184239	0.78677	.	.	ENSG00000148600	ENST00000332904;ENST00000372117;ENST00000440770	T;T;T	0.54071	0.59;0.59;0.59	5.93	5.93	0.95920	Cadherin (4);Cadherin-like (1);	0.199139	0.52532	D	0.000071	T	0.56877	0.2015	N	0.17764	0.52	0.52501	D	0.999955	D;P;D	0.62365	0.991;0.82;0.99	P;P;D	0.63033	0.898;0.628;0.91	T	0.52449	-0.8574	10	0.30078	T	0.28	-28.6022	17.8347	0.88692	0.0:0.0:1.0:0.0	.	319;615;615	E7EN47;Q96JP9-2;Q96JP9	.;.;CDHR1_HUMAN	Q	615;615;319	ENSP00000331063:E615Q;ENSP00000361189:E615Q;ENSP00000415980:E319Q	ENSP00000331063:E615Q	E	+	1	0	CDHR1	85962887	1.000000	0.71417	0.980000	0.43619	0.588000	0.36517	9.326000	0.96389	2.814000	0.96858	0.655000	0.94253	GAG		0.572	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		7	128	0	0	0	1	0	7	128					C	85972907	G	C	85972907	3	2	240	1	0	0	0	0	1	0	0	0	3118	943	33	4	1905	4	CDHR1	10	85972907	Missense_Mutation	SNP	G	TCGA-EL-A3T8-01A-21D-A22D-08	78730476	85972907	49561840	8	5178											
QSER1	79832	broad.mit.edu	37	chr11	32956671	32956671	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagattttctgaaatccggGcccaagcagcagttttccac	8	11	1	2			TCGA-EL-A3T8-01A-21D-A22D-08	TCGA-EL-A3T8-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47a0cb63-dd19-49fe-983d-a2e786795355	e475f95d-8efb-4df4-9682-9608c5081ea7	g.chr11:32956671G>A	ENST00000399302.2	+	4	3815	c.3480G>A	c.(3478-3480)ggG>ggA	p.G1160G	QSER1_ENST00000527788.1_Silent_p.G921G	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1160										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TGAAATCCGGGCCCAAGCAGC	0.448																																						ENST00000399302.2																			0				breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48						c.(3478-3480)ggG>ggA		glutamine and serine rich 1							80	80	80					11																	32956671		1869	4095	5964	SO:0001819	synonymous_variant	79832							g.chr11:32956671G>A	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.3480G>A	11.37:g.32956671G>A						QSER1_ENST00000527788.1_Silent_p.G921G	p.G1160G	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN			4	3815	+	Breast(20;0.158)		1160					Q6ZU30|Q6ZUR5	Silent	SNP	ENST00000399302.2	37	c.3480G>A	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	G	5.667	0.307716	0.10733	.	.	ENSG00000060749	ENST00000524678	T	0.67865	-0.29	5.46	-1.42	0.08913	.	0.000000	0.64402	D	0.000001	T	0.61299	0.2336	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57648	-0.7775	7	0.72032	D	0.01	.	1.2095	0.01902	0.3085:0.1078:0.364:0.2197	.	.	.	.	D	181	ENSP00000432136:G181D	ENSP00000432136:G181D	G	+	2	0	QSER1	32913247	0.292000	0.24362	0.998000	0.56505	0.987000	0.75469	-0.337000	0.07852	0.013000	0.14918	0.467000	0.42956	GGC		0.448	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		3	64	0	0	0	1	0	3	64					A	32956671	G	A	32956671	2	1	240	1	0	0	0	0	0	0	0	1	12882	1190	42	2		2	QSER1	11	32956671	Silent	SNP	G	TCGA-EL-A3T8-01A-21D-A22D-08		32956671	102049845	9	5179											
MARS	4141	broad.mit.edu	37	chr12	57892382	57892382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgtttgatatttttggtcGcaccaccactccacagcaga	7	12	0	2			TCGA-EL-A3T8-01A-21D-A22D-08	TCGA-EL-A3T8-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47a0cb63-dd19-49fe-983d-a2e786795355	e475f95d-8efb-4df4-9682-9608c5081ea7	g.chr12:57892382G>A	ENST00000262027.5	+	9	1201	c.1067G>A	c.(1066-1068)cGc>cAc	p.R356H	MARS_ENST00000315473.5_Missense_Mutation_p.R122H|MARS_ENST00000447721.2_3'UTR	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	356					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	ATTTTTGGTCGCACCACCACT	0.498																																						ENST00000262027.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33						c.(1066-1068)cGc>cAc		methionyl-tRNA synthetase	L-Methionine(DB00134)						174	151	159					12																	57892382		2203	4300	6503	SO:0001583	missense	4141				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding	g.chr12:57892382G>A	X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"Aminoacyl tRNA synthetases / Class I"	6898	protein-coding gene	gene with protein product	"methionine tRNA ligase 1, cytoplasmic"	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.1067G>A	12.37:g.57892382G>A	ENSP00000262027:p.Arg356His					MARS_ENST00000315473.5_Missense_Mutation_p.R122H|MARS_ENST00000447721.2_3'UTR	p.R356H	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	GBM - Glioblastoma multiforme(3;4.27e-41)		9	1201	+			356					B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	ENST00000262027.5	37	c.1067G>A	CCDS8942.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.951278|3.951278	0.73787|0.73787	.|.	.|.	ENSG00000166986|ENSG00000166986	ENST00000552371|ENST00000262027;ENST00000315473	.|T;T	.|0.55588	.|0.99;0.51	4.86|4.86	4.86|4.86	0.63082|0.63082	.|Aminoacyl-tRNA synthetase, class I (M) (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	.|0.050938	.|0.85682	.|D	.|0.000000	T|T	0.78078|0.78078	0.4227|0.4227	M|M	0.90922|0.90922	3.16|3.16	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.998;0.995	.|D;D;D	.|0.70487	.|0.969;0.931;0.968	D|D	0.83958|0.83958	0.0320|0.0320	5|10	.|0.87932	.|D	.|0	-10.8416|-10.8416	17.1304|17.1304	0.86725|0.86725	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|122;229;356	.|A6NC17;B4E0E9;P56192	.|.;.;SYMC_HUMAN	T|H	189|356;122	.|ENSP00000262027:R356H;ENSP00000314653:R122H	.|ENSP00000262027:R356H	A|R	+|+	1|2	0|0	MARS|MARS	56178649|56178649	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.165000|0.165000	0.22458|0.22458	9.318000|9.318000	0.96334|0.96334	2.433000|2.433000	0.82419|0.82419	0.561000|0.561000	0.74099|0.74099	GCA|CGC		0.498	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990		3	100	0	0	0	1	0	3	100					A	57892382	G	A	57892382	3	1	240	1	0	0	0	0	1	0	0	0	9316	1087	38	1	1101	1	MARS	12	57892382	Missense_Mutation	SNP	G	TCGA-EL-A3T8-01A-21D-A22D-08		57892382	75959513	10	5180											
PITPNM2	57605	broad.mit.edu	37	chr12	123474427	123474427	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggccaggggtggtggggcTgggggcgggcagggcgagca	27	7	0	0			TCGA-EL-A3T8-01A-21D-A22D-08	TCGA-EL-A3T8-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47a0cb63-dd19-49fe-983d-a2e786795355	e475f95d-8efb-4df4-9682-9608c5081ea7	g.chr12:123474427T>G	ENST00000542749.1	-	16	2701	c.2638A>C	c.(2638-2640)Agc>Cgc	p.S880R	PITPNM2_ENST00000392428.1_Missense_Mutation_p.S601R|PITPNM2_ENST00000280562.5_Intron|PITPNM2_ENST00000320201.4_Missense_Mutation_p.S880R			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	880	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GTGGTGGGGCTGGGGGCGGGC	0.687																																						ENST00000320201.4																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(2638-2640)Agc>Cgc		phosphatidylinositol transfer protein, membrane-associated 2							2	3	2					12																	123474427		1321	2883	4204	SO:0001583	missense	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123474427T>G	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.2638A>C	12.37:g.123474427T>G	ENSP00000437611:p.Ser880Arg					PITPNM2_ENST00000280562.5_Intron|PITPNM2_ENST00000542749.1_Missense_Mutation_p.S880R|PITPNM2_ENST00000392428.1_Missense_Mutation_p.S601R	p.S880R	NM_020845.2	NP_065896.1	Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	17	2776	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		880			DDHD.		Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	c.2638A>C	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	t	8.105	0.777545	0.16120	.	.	ENSG00000090975	ENST00000320201;ENST00000392428;ENST00000542749	T;T;T	0.44083	1.25;0.93;1.25	5.25	-10.5	0.00291	DDHD (2);	1.325000	0.05462	U	0.551478	T	0.20495	0.0493	N	0.14661	0.345	0.09310	N	1	B	0.22909	0.077	B	0.28991	0.097	T	0.32903	-0.9889	10	0.44086	T	0.13	-0.586	3.5902	0.07986	0.4413:0.3133:0.0929:0.1526	.	880	Q9BZ72	PITM2_HUMAN	R	880;601;880	ENSP00000322218:S880R;ENSP00000376223:S601R;ENSP00000437611:S880R	ENSP00000322218:S880R	S	-	1	0	PITPNM2	122040380	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.610000	0.00209	-4.103000	0.00073	-2.971000	0.00081	AGC		0.687	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		4	4	0	0	0	1	0	4	4					G	123474427	T	G	123474427	3	3	240	1	0	0	0	0	1	0	0	0	11951	1580	55	5	1447	5	PITPNM2	12	123474427	Missense_Mutation	SNP	T	TCGA-EL-A3T8-01A-21D-A22D-08	65582045	123474427	10377468	11	5181											
OR10G2	26534	broad.mit.edu	37	chr14	22102364	22102364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaacatgaagcaactggcgGccactaccctgacgtccaca	8	14	0	2	rs375960315		TCGA-EL-A3T8-01A-21D-A22D-08	TCGA-EL-A3T8-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47a0cb63-dd19-49fe-983d-a2e786795355	e475f95d-8efb-4df4-9682-9608c5081ea7	g.chr14:22102364G>A	ENST00000542433.1	-	1	732	c.635C>T	c.(634-636)gCc>gTc	p.A212V		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		GCAACTGGCGGCCACTACCCT	0.532																																						ENST00000542433.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22						c.(634-636)gCc>gTc		olfactory receptor, family 10, subfamily G, member 2							61	67	65					14																	22102364		2198	4294	6492	SO:0001583	missense	26534				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22102364G>A		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"GPCR / Class A : Olfactory receptors"	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.635C>T	14.37:g.22102364G>A	ENSP00000445383:p.Ala212Val						p.A212V	NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN		GBM - Glioblastoma multiforme(265;0.0142)	1	732	-	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	212					B2RPD0	Missense_Mutation	SNP	ENST00000542433.1	37	c.635C>T	CCDS32047.1	.	.	.	.	.	.	.	.	.	.	G	5.308	0.242235	0.10077	.	.	ENSG00000255582	ENST00000542433	T	0.35605	1.3	3.92	2.98	0.34508	GPCR, rhodopsin-like superfamily (1);	0.294724	0.24039	N	0.042115	T	0.20901	0.0503	N	0.11427	0.14	0.26746	N	0.970308	B	0.16396	0.017	B	0.21708	0.036	T	0.20405	-1.0276	10	0.56958	D	0.05	-5.3532	10.7849	0.46398	0.0:0.1949:0.8051:0.0	.	212	Q8NGC3	O10G2_HUMAN	V	212	ENSP00000445383:A212V	ENSP00000445383:A212V	A	-	2	0	OR10G2	21172204	0.000000	0.05858	0.964000	0.40570	0.147000	0.21601	0.163000	0.16520	0.795000	0.33922	0.557000	0.71058	GCC		0.532	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1			3	112	0	0	0	1	0	3	112					A	22102364	G	A	22102364	3	1	240	1	0	0	0	0	1	0	0	0	10899	1203	42	2	300	2	OR10G2	14	22102364	Missense_Mutation	SNP	G	TCGA-EL-A3T8-01A-21D-A22D-08		22102364	85247176	12	5182											
TDP1	55775	broad.mit.edu	37	chr14	90430003	90430003	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccaaagtataactctggagCcctccacatcaagggtaaga	9	11	2	1			TCGA-EL-A3T8-01A-21D-A22D-08	TCGA-EL-A3T8-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47a0cb63-dd19-49fe-983d-a2e786795355	e475f95d-8efb-4df4-9682-9608c5081ea7	g.chr14:90430003C>A	ENST00000335725.4	+	3	795	c.545C>A	c.(544-546)gCc>gAc	p.A182D	TDP1_ENST00000393452.3_Missense_Mutation_p.A182D|TDP1_ENST00000555565.1_Intron|TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000555880.1_Missense_Mutation_p.A182D|TDP1_ENST00000393454.2_Missense_Mutation_p.A182D	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	182					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		AACTCTGGAGCCCTCCACATC	0.512								Repair of DNA-protein crosslinks																														ENST00000335725.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25						c.(544-546)gCc>gAc	Repair of DNA-protein crosslinks	tyrosyl-DNA phosphodiesterase 1							46	47	46					14																	90430003		2203	4300	6503	SO:0001583	missense	55775				cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding	g.chr14:90430003C>A	AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.545C>A	14.37:g.90430003C>A	ENSP00000337353:p.Ala182Asp					TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000393452.3_Missense_Mutation_p.A182D|TDP1_ENST00000555565.1_Intron|TDP1_ENST00000393454.2_Missense_Mutation_p.A182D|TDP1_ENST00000555880.1_Missense_Mutation_p.A182D	p.A182D	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN		COAD - Colon adenocarcinoma(157;0.23)	3	795	+		all_cancers(154;0.185)	182					Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Missense_Mutation	SNP	ENST00000335725.4	37	c.545C>A	CCDS9888.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414528	0.83449	.	.	ENSG00000042088	ENST00000393452;ENST00000554180;ENST00000393454;ENST00000553617;ENST00000335725;ENST00000555880	T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96	5.56	4.66	0.58398	.	0.049515	0.85682	D	0.000000	T	0.62405	0.2425	M	0.82323	2.585	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.982;0.989;0.998;0.989	T	0.61739	-0.7001	10	0.07644	T	0.81	-6.6798	14.6892	0.69072	0.0:0.9293:0.0:0.0707	.	182;182;182;182	G3V2F4;E7EPD8;G3V4W8;Q9NUW8	.;.;.;TYDP1_HUMAN	D	182;182;182;83;182;182	ENSP00000377098:A182D;ENSP00000450872:A182D;ENSP00000377099:A182D;ENSP00000450708:A83D;ENSP00000337353:A182D;ENSP00000450628:A182D	ENSP00000337353:A182D	A	+	2	0	TDP1	89499756	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	5.335000	0.65929	2.596000	0.87737	0.561000	0.74099	GCC		0.512	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1	NM_018319		4	48	1	0	0.150653	1	0.156448	4	48					A	90430003	C	A	90430003	3	1	240	1	0	0	0	0	1	0	0	0	15725	739	26	4	547	4	TDP1	14	90430003	Missense_Mutation	SNP	C	TCGA-EL-A3T8-01A-21D-A22D-08	68327639	90430003	16919537	13	5183											
NOD2	64127	broad.mit.edu	37	chr16	50759417	50759417	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagcctggaggagaaccatcTccaggatgaaggtgtatgtt	13	8	1	2			TCGA-EL-A3T8-01A-21D-A22D-08	TCGA-EL-A3T8-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47a0cb63-dd19-49fe-983d-a2e786795355	e475f95d-8efb-4df4-9682-9608c5081ea7	g.chr16:50759417T>A	ENST00000300589.2	+	10	3005	c.2900T>A	c.(2899-2901)cTc>cAc	p.L967H		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	967					activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|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 nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GAGAACCATCTCCAGGATGAA	0.413																																						ENST00000300589.2																			0				cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52						c.(2899-2901)cTc>cAc		nucleotide-binding oligomerization domain containing 2							95	93	94					16																	50759417		2198	4300	6498	SO:0001583	missense	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50759417T>A	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"Nucleotide-binding domain and leucine rich repeat containing"	5331	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2", "NOD-like receptor C2", "NLR family, CARD domain containing 2"	605956	"caspase recruitment domain family, member 15"	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.2900T>A	16.37:g.50759417T>A	ENSP00000300589:p.Leu967His						p.L967H	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN			10	3005	+		all_cancers(37;0.0156)	967					E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	c.2900T>A	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	T	19.91	3.915185	0.73098	.	.	ENSG00000167207	ENST00000526417;ENST00000300589;ENST00000431240	T	0.60672	0.17	5.97	5.97	0.96955	.	0.225081	0.31685	N	0.007221	T	0.79009	0.4374	M	0.91406	3.205	0.29266	N	0.870981	D	0.71674	0.998	D	0.64877	0.93	T	0.79969	-0.1579	10	0.87932	D	0	.	12.8422	0.57809	0.0:0.0:0.0:1.0	.	967	Q9HC29	NOD2_HUMAN	H	940;967;107	ENSP00000300589:L967H	ENSP00000300589:L967H	L	+	2	0	NOD2	49316918	0.793000	0.28825	0.684000	0.30055	0.995000	0.86356	3.578000	0.53892	2.288000	0.76882	0.533000	0.62120	CTC		0.413	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		3	90	0	0	0	1	0	3	90					A	50759417	T	A	50759417	3	1	240	1	0	0	0	0	1	0	0	0	10517	1551	54	5	2938	5	NOD2	16	50759417	Missense_Mutation	SNP	T	TCGA-EL-A3T8-01A-21D-A22D-08		50759417	39595336	14	5184											
FECH	2235	broad.mit.edu	37	chr18	55247321	55247321	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacctcttctgcggttgaaCttgaggttttgcaccctggg	11	10	2	2			TCGA-EL-A3T8-01A-21D-A22D-08	TCGA-EL-A3T8-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47a0cb63-dd19-49fe-983d-a2e786795355	e475f95d-8efb-4df4-9682-9608c5081ea7	g.chr18:55247321C>T	ENST00000262093.5	-	2	329	c.178G>A	c.(178-180)Gtt>Att	p.V60I	FECH_ENST00000382873.3_Missense_Mutation_p.V60I|FECH_ENST00000585699.1_Intron	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	60					cellular response to dexamethasone stimulus (GO:0071549)|cholesterol metabolic process (GO:0008203)|detection of UV (GO:0009589)|erythrocyte differentiation (GO:0030218)|generation of precursor metabolites and energy (GO:0006091)|heme biosynthetic process (GO:0006783)|iron ion homeostasis (GO:0055072)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|regulation of gene expression (GO:0010468)|regulation of hemoglobin biosynthetic process (GO:0046984)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insecticide (GO:0017085)|response to lead ion (GO:0010288)|response to light stimulus (GO:0009416)|response to methylmercury (GO:0051597)|response to platinum ion (GO:0070541)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle assembly (GO:0034379)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	2 iron, 2 sulfur cluster binding (GO:0051537)|ferrochelatase activity (GO:0004325)|ferrous iron binding (GO:0008198)|heme binding (GO:0020037)|iron-responsive element binding (GO:0030350)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				TGCGGTTGAACTTGAGGTTTT	0.522																																						ENST00000262093.5																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(178-180)Gtt>Att		ferrochelatase							164	148	153					18																	55247321		2203	4300	6503	SO:0001583	missense	2235				generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding	g.chr18:55247321C>T	D00726	CCDS11964.1, CCDS32836.1	18q21.2-q21.3	2010-05-11	2010-05-11		ENSG00000066926	ENSG00000066926	4.99.1.1		3647	protein-coding gene	gene with protein product	"protoporphyria"	612386	"ferrochelatase (protoporphyria)"			1838349	Standard	NM_001012515		Approved		uc002lgp.4	P22830	OTTHUMG00000132740	ENST00000262093.5:c.178G>A	18.37:g.55247321C>T	ENSP00000262093:p.Val60Ile					FECH_ENST00000585699.1_Intron|FECH_ENST00000382873.3_Missense_Mutation_p.V60I	p.V60I	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN			2	329	-		Colorectal(73;0.227)	60					A8KA72|Q8IXN1|Q8NAN0	Missense_Mutation	SNP	ENST00000262093.5	37	c.178G>A	CCDS11964.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.395538	0.25205	.	.	ENSG00000066926	ENST00000262093;ENST00000382873	D;D	0.97665	-4.47;-4.48	5.6	5.6	0.85130	.	0.417679	0.26424	N	0.024454	D	0.93022	0.7779	L	0.27053	0.805	0.21915	N	0.999474	B;B	0.10296	0.0;0.003	B;B	0.11329	0.001;0.006	D	0.83722	0.0193	10	0.36615	T	0.2	-3.1101	10.9244	0.47184	0.0:0.9146:0.0:0.0854	.	60;60	P22830;P22830-2	HEMH_HUMAN;.	I	60	ENSP00000262093:V60I;ENSP00000372326:V60I	ENSP00000262093:V60I	V	-	1	0	FECH	53398319	0.963000	0.33076	0.702000	0.30337	0.115000	0.19883	2.526000	0.45607	2.788000	0.95919	0.650000	0.86243	GTT		0.522	FECH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256098.1			9	142	0	0	0	1	0	9	142					T	55247321	C	T	55247321	3	4	240	1	0	0	0	0	1	0	0	0	5808	565	20	2	1151	2	FECH	18	55247321	Missense_Mutation	SNP	C	TCGA-EL-A3T8-01A-21D-A22D-08		55247321	22829927	15	5185											
SLC25A33	84275	broad.mit.edu	37	chr1	9642501	9642501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggcagatcccaaatactgCcattgtgttgtctacttatg	8	11	1	1			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr1:9642501C>T	ENST00000302692.6	+	7	1118	c.908C>T	c.(907-909)gCc>gTc	p.A303V		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33	303					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		CCAAATACTGCCATTGTGTTG	0.453																																						ENST00000302692.6																			0				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9						c.(907-909)gCc>gTc		solute carrier family 25 (pyrimidine nucleotide carrier), member 33							64	58	60					1																	9642501		2203	4300	6503	SO:0001583	missense	84275				transport	integral to membrane|mitochondrial inner membrane		g.chr1:9642501C>T	AF495714	CCDS103.1	1p36.22	2013-05-22	2012-03-29		ENSG00000171612	ENSG00000171612		"Solute carriers"	29681	protein-coding gene	gene with protein product		610816	"solute carrier family 25, member 33"			14715278, 16949250	Standard	XM_005263503		Approved	MGC4399, BMSC-MCP, PNC1	uc001apw.3	Q9BSK2	OTTHUMG00000001322	ENST00000302692.6:c.908C>T	1.37:g.9642501C>T	ENSP00000306328:p.Ala303Val						p.A303V	NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)	7	1118	+	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	303						Missense_Mutation	SNP	ENST00000302692.6	37	c.908C>T	CCDS103.1	.	.	.	.	.	.	.	.	.	.	C	33	5.227479	0.95173	.	.	ENSG00000171612	ENST00000302692	D	0.81908	-1.55	5.98	5.98	0.97165	Mitochondrial carrier domain (2);	0.211314	0.49305	D	0.000141	D	0.90397	0.6994	M	0.77313	2.365	0.80722	D	1	D	0.61697	0.99	D	0.63283	0.913	D	0.87709	0.2565	10	0.29301	T	0.29	-12.3981	19.4463	0.94849	0.0:1.0:0.0:0.0	.	303	Q9BSK2	S2533_HUMAN	V	303	ENSP00000306328:A303V	ENSP00000306328:A303V	A	+	2	0	SLC25A33	9565088	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.835000	0.97688	0.650000	0.86243	GCC		0.453	SLC25A33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003851.2	NM_032315		7	20	0	0	0	1	0	7	20					T	9642501	C	T	9642501	3	4	241	1	0	0	0	0	1	0	0	0	14497	739	26	2	934	2	SLC25A33	1	9642501	Missense_Mutation	SNP	C	TCGA-EL-A3T9-01A-21D-A22D-08		9642501	239608120	1	5186											
GJA8	2703	broad.mit.edu	37	chr1	147380580	147380580	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctctttgaagtgggcttcatCgtgggccactacttcctgta	10	11	2	1			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr1:147380580C>A	ENST00000369235.1	+	1	498	c.498C>A	c.(496-498)atC>atA	p.I166I	GJA8_ENST00000240986.4_Silent_p.I166I			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	166					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TGGGCTTCATCGTGGGCCACT	0.607																																					Melanoma(76;1255 1795 8195 52096)	ENST00000240986.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37						c.(496-498)atC>atA		gap junction protein, alpha 8, 50kDa							117	113	114					1																	147380580		2203	4300	6503	SO:0001819	synonymous_variant	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147380580C>A	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"Ion channels / Gap junction proteins (connexins)"	4281	protein-coding gene	gene with protein product	"connexin 50"	600897	"gap junction protein, alpha 8, 50kD (connexin 50)", "gap junction protein, alpha 8, 50kDa (connexin 50)"	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.498C>A	1.37:g.147380580C>A						GJA8_ENST00000369235.1_Silent_p.I166I	p.I166I	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN			2	551	+	all_hematologic(923;0.0276)		166					A7L5M5|Q5VVN9|Q9NP25	Silent	SNP	ENST00000369235.1	37	c.498C>A	CCDS30834.1																																																																																				0.607	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		101	144	1	0	9.33504e-39	1	1.02925e-38	101	144					A	147380580	C	A	147380580	2	1	241	1	0	0	0	0	0	0	0	1	6405	874	31	4		4	GJA8	1	147380580	Silent	SNP	C	TCGA-EL-A3T9-01A-21D-A22D-08	137738079	147380580	101870041	2	5187											
SLC8A1	6546	broad.mit.edu	37	chr2	40342768	40342768	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccactttgctggcaaatgtGtctgcagaggaagaagagaa	13	7	1	3			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr2:40342768G>T	ENST00000403092.1	-	11	2580	c.2547C>A	c.(2545-2547)gaC>gaA	p.D849E	SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000408028.2_Splice_Site_p.D841E|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000332839.4_Splice_Site_p.D849E|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000542756.1_Splice_Site_p.D844E|SLC8A1_ENST00000405901.3_Splice_Site_p.D844E|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000402441.1_Splice_Site_p.D813E|SLC8A1_ENST00000542024.1_Splice_Site_p.D813E|SLC8A1_ENST00000406391.2_Splice_Site_p.D813E|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000406785.2_Splice_Site_p.D813E|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000405269.1_Splice_Site_p.D813E			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	849					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TGGCAAATGTGTCTGCAGAGG	0.507																																						ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.e8-1		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						66	68	67					2																	40342768		2203	4300	6503	SO:0001630	splice_region_variant	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40342768G>T		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2546-1C>A	2.37:g.40342768G>T						SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Splice_Site_p.D844_splice|SLC8A1_ENST00000542024.1_Splice_Site_p.D813_splice|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000408028.2_Splice_Site_p.D841_splice|SLC8A1_ENST00000406391.2_Splice_Site_p.D813_splice|SLC8A1_ENST00000405901.3_Splice_Site_p.D844_splice|SLC8A1_ENST00000405269.1_Splice_Site_p.D813_splice|SLC8A1_ENST00000403092.1_Splice_Site_p.D849_splice|SLC8A1_ENST00000402441.1_Splice_Site_p.D813_splice|SLC8A1_ENST00000332839.4_Splice_Site_p.D849_splice	p.D813_splice			P32418	NAC1_HUMAN			8	2628	-			849					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Splice_Site	SNP	ENST00000403092.1	37	c.2437_splice	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999305	0.54147	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49	5.87	3.14	0.36123	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	T	0.59514	0.2199	L	0.39467	1.215	0.58432	D	0.999997	P;D;D;D	0.89917	0.902;1.0;1.0;1.0	P;D;D;D	0.81914	0.893;0.981;0.993;0.995	T	0.58244	-0.7670	10	0.87932	D	0	.	7.9687	0.30115	0.3101:0.0:0.6899:0.0	.	813;836;844;849	P32418-2;P32418-3;F6VPY9;P32418	.;.;.;NAC1_HUMAN	E	813;849;844;849;844;813;813;849;841;836;813;813	ENSP00000383886:D813E;ENSP00000440727:D844E;ENSP00000384763:D849E;ENSP00000385678:D844E;ENSP00000385188:D813E;ENSP00000385535:D813E;ENSP00000332931:D849E;ENSP00000384908:D841E;ENSP00000385811:D813E;ENSP00000443515:D813E	ENSP00000332931:D849E	D	-	3	2	SLC8A1	40196272	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	2.414000	0.44627	0.410000	0.25675	0.655000	0.94253	GAC		0.507	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097	Missense_Mutation	16	49	1	0	2.89027e-11	1	3.03126e-11	16	49					T	40342768	G	T	40342768	5	4	241	1	0	0	0	0	0	0	1	0	14706	1391	48	4	378	4	SLC8A1	2	40342768	Splice_Site	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08		40342768	202856605	3	5188											
KCNK12	56660	broad.mit.edu	37	chr2	47797086	47797086	+	Frame_Shift_Del	DEL	T	T	-													gacgcgccgctcacctatggTtgacaccacggtgcccacga							TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr2:47797086delT	ENST00000327876.4	-	1	992	c.385delA	c.(385-387)accfs	p.T129fs	KCNK12_ENST00000493527.1_5'UTR|AC138655.1_ENST00000601243.1_5'Flank	NM_022055.1	NP_071338.1	Q9HB15	KCNKC_HUMAN	potassium channel, subfamily K, member 12	129						integral component of membrane (GO:0016021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.0?(2)|p.?(1)		NS(1)|endometrium(1)|lung(3)|ovary(1)	6		all_hematologic(82;0.0495)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCACCTATGGTTGACACCACG	0.721																																						ENST00000327876.3																			3	Whole gene deletion(2)|Unknown(1)	p.0?(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(2)|prostate(1)	NS(1)|endometrium(1)|lung(3)|ovary(1)	6						c.(385-387)ccfs		potassium channel, subfamily K, member 12							3	4	4					2																	47797086		1841	3676	5517	SO:0001589	frameshift_variant	56660					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr2:47797086delT	AF287302	CCDS1835.1	2p16.3	2012-03-07			ENSG00000184261	ENSG00000184261		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6274	protein-coding gene	gene with protein product		607366				11060316	Standard	NM_022055		Approved	THIK-2, THIK2, K2p12.1	uc002rwb.3	Q9HB15	OTTHUMG00000129131	ENST00000327876.4:c.385delA	2.37:g.47797086delT	ENSP00000327611:p.Thr129fs					KCNK12_ENST00000493527.1_5'UTR	p.T129fs	NM_022055.1	NP_071338.1	Q9HB15	KCNKC_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	992	-		all_hematologic(82;0.0495)|Acute lymphoblastic leukemia(82;0.175)	129						Frame_Shift_Del	DEL	ENST00000327876.4	37	c.385delA	CCDS1835.1																																																																																				0.721	KCNK12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251182.2	NM_022055		2	4						2	4	---	---	---	---	-	47797086	T	-	47797086	7	5	241	1	0	1	0	1	0	0	0	0	8060	1725	60	0	915	0	KCNK12	2	47797086	Frame_Shift_Del	DEL	T	TCGA-EL-A3T9-01A-21D-A22D-08	7454318	47797086	195402287	4	5189											
ITGA6	3655	broad.mit.edu	37	chr2	173292654	173292654	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccgggagcctcttcggcttCtcgctggccatgcactggca	12	16	2	0	rs377085042		TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr2:173292654C>T	ENST00000264106.6	+	1	341	c.138C>T	c.(136-138)ttC>ttT	p.F46F	ITGA6_ENST00000409080.1_Silent_p.F46F|ITGA6_ENST00000343713.4_Silent_p.F46F|ITGA6_ENST00000409532.1_Intron|ITGA6_ENST00000375221.2_Silent_p.F46F|ITGA6_ENST00000264107.7_Silent_p.F46F|AC078883.4_ENST00000441212.1_RNA			P23229	ITA6_HUMAN	integrin, alpha 6	46					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TCTTCGGCTTCTCGCTGGCCA	0.672																																						ENST00000375221.2																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44						c.(136-138)ttC>ttT		integrin, alpha 6							44	46	46					2																	173292654		2203	4299	6502	SO:0001819	synonymous_variant	0				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	g.chr2:173292654C>T		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"CD molecules", "Integrins"	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.138C>T	2.37:g.173292654C>T						ITGA6_ENST00000343713.4_Silent_p.F46F|ITGA6_ENST00000264106.6_Silent_p.F46F|ITGA6_ENST00000264107.7_Silent_p.F46F|ITGA6_ENST00000409532.1_Intron|ITGA6_ENST00000409080.1_Silent_p.F46F|AC078883.4_ENST00000441212.1_RNA	p.F46F			P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		1	341	+			46					B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Silent	SNP	ENST00000264106.6	37	c.138C>T																																																																																					0.672	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				19	39	0	0	0	1	0	19	39					T	173292654	C	T	173292654	2	4	241	1	0	0	0	0	0	0	0	1	7880	912	32	2		2	ITGA6	2	173292654	Silent	SNP	C	TCGA-EL-A3T9-01A-21D-A22D-08	125495568	173292654	69906719	5	5190											
C3orf43	255798	broad.mit.edu	37	chr3	196235046	196235046	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtatggactcccatacaacTctaacgcgcttgttcttaac	6	12	2	0			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr3:196235046T>C	ENST00000397537.2	-	3	513	c.357A>G	c.(355-357)agA>agG	p.R119R		NM_001077657.1	NP_001071125.1	Q147U7	SMCO1_HUMAN	single-pass membrane protein with coiled-coil domains 1	119						integral component of membrane (GO:0016021)											CCCATACAACTCTAACGCGCT	0.483																																						ENST00000397537.2																			0											c.(355-357)agA>agG		single-pass membrane protein with coiled-coil domains 1							137	132	133					3																	196235046		1983	4160	6143	SO:0001819	synonymous_variant	255798							g.chr3:196235046T>C	AK123917	CCDS43192.1	3q29	2013-03-08	2013-03-08	2013-03-08	ENSG00000214097	ENSG00000214097			27407	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 43"	C3orf43			Standard	NM_001077657		Approved	FLJ41923, DKFZp313B0440		Q147U7	OTTHUMG00000155581	ENST00000397537.2:c.357A>G	3.37:g.196235046T>C							p.R119R	NM_001077657.1	NP_001071125.1					3	513	-								B3KW20	Silent	SNP	ENST00000397537.2	37	c.357A>G	CCDS43192.1																																																																																				0.483	SMCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340776.1	NM_001006109		25	73	0	0	0	1	0	25	73					C	196235046	T	C	196235046	2	2	241	1	0	0	0	0	0	0	0	1	2230	1548	54	3		3	C3orf43	3	196235046	Silent	SNP	T	TCGA-EL-A3T9-01A-21D-A22D-08		196235046	1787384	6	5191											
ALB	213	broad.mit.edu	37	chr4	74274412	74274412	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caagaacctgagagaaatgaAtgcttcttgcaacacaaaga	8	8	1	5			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr4:74274412A>T	ENST00000295897.4	+	4	461	c.372A>T	c.(370-372)gaA>gaT	p.E124D	ALB_ENST00000415165.2_Intron|ALB_ENST00000509063.1_Missense_Mutation_p.E124D|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000503124.1_Intron|ALB_ENST00000401494.3_Intron	NM_000477.5	NP_000468.1	Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGAGAAATGAATGCTTCTTGC	0.433																																						ENST00000295897.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48						c.(370-372)gaA>gaT		albumin	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)						96	90	92					4																	74274412		2203	4300	6503	SO:0001583	missense	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74274412A>T	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000295897.4:c.372A>T	4.37:g.74274412A>T	ENSP00000295897:p.Glu124Asp					ALB_ENST00000415165.2_Intron|ALB_ENST00000401494.3_Intron|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000503124.1_Intron|ALB_ENST00000509063.1_Missense_Mutation_p.E124D	p.E124D	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		4	461	+	Breast(15;0.00102)		124			Albumin 1.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000295897.4	37	c.372A>T	CCDS3555.1	.	.	.	.	.	.	.	.	.	.	A	14.90	2.672162	0.47781	.	.	ENSG00000163631	ENST00000441319;ENST00000295897;ENST00000329326;ENST00000509063;ENST00000430202	T;T;T	0.73681	-0.77;-0.77;-0.77	6.04	-12.1	0.00011	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.745812	0.12785	N	0.439375	T	0.65626	0.2709	M	0.72118	2.19	0.58432	D	0.999998	B;B	0.14805	0.011;0.011	B;B	0.24155	0.019;0.051	T	0.56214	-0.8016	10	0.87932	D	0	-15.4278	11.339	0.49523	0.1662:0.0803:0.5954:0.1581	.	124;124	A6NBZ8;P02768	.;ALBU_HUMAN	D	126;124;124;124;133	ENSP00000392541:E126D;ENSP00000295897:E124D;ENSP00000422784:E124D	ENSP00000295897:E124D	E	+	3	2	ALB	74493276	0.000000	0.05858	0.000000	0.03702	0.408000	0.30992	-3.822000	0.00357	-3.026000	0.00268	-0.468000	0.05107	GAA		0.433	ALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252173.3	NM_000477		14	35	0	0	0	1	0	14	35					T	74274412	A	T	74274412	3	4	241	1	0	0	0	0	1	0	0	0	486	98	4	5	386	5	ALB	4	74274412	Missense_Mutation	SNP	A	TCGA-EL-A3T9-01A-21D-A22D-08		74274412	116879864	7	5192											
KIAA1109	84162	broad.mit.edu	37	chr4	123185435	123185435	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaatcttccaacaataccCtcagcctcagatttcaacac	2	17	4	1			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr4:123185435C>T	ENST00000264501.4	+	45	7543	c.7170C>T	c.(7168-7170)ccC>ccT	p.P2390P	KIAA1109_ENST00000455637.1_Silent_p.P2390P|KIAA1109_ENST00000388738.3_Silent_p.P2390P			Q2LD37	K1109_HUMAN	KIAA1109	2390					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CAACAATACCCTCAGCCTCAG	0.398																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(7168-7170)ccC>ccT		KIAA1109							103	98	100					4																	123185435		1902	4121	6023	SO:0001819	synonymous_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123185435C>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.7170C>T	4.37:g.123185435C>T						KIAA1109_ENST00000455637.1_Silent_p.P2390P|KIAA1109_ENST00000388738.3_Silent_p.P2390P	p.P2390P			Q2LD37	K1109_HUMAN			45	7543	+			2390					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	c.7170C>T	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.955|8.955	0.969145|0.969145	0.18659|0.18659	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000419325|ENST00000446180	.|T	.|0.32023	.|1.47	5.92|5.92	3.26|3.26	0.37387|0.37387	.|.	.|0.000000	.|0.51477	.|U	.|0.000091	T|T	0.35998|0.35998	0.0951|0.0951	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.03717|0.03717	-1.1010|-1.1010	4|7	.|0.36615	.|T	.|0.2	.|.	8.7663|8.7663	0.34704|0.34704	0.0:0.6402:0.2328:0.127|0.0:0.6402:0.2328:0.127	.|.	.|.	.|.	.|.	F|L	348|963	.|ENSP00000394909:P963L	.|ENSP00000394909:P963L	L|P	+|+	1|2	0|0	KIAA1109|KIAA1109	123404885|123404885	0.189000|0.189000	0.23263|0.23263	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	-0.432000|-0.432000	0.06956|0.06956	0.394000|0.394000	0.25230|0.25230	-0.145000|-0.145000	0.13849|0.13849	CTC|CCT		0.398	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		27	64	0	0	0	1	0	27	64					T	123185435	C	T	123185435	2	4	241	1	0	0	0	0	0	0	0	1	8208	668	24	2		2	KIAA1109	4	123185435	Silent	SNP	C	TCGA-EL-A3T9-01A-21D-A22D-08	48911023	123185435	67968841	8	5193											
ITGA2	3673	broad.mit.edu	37	chr5	52360756	52360756	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaagggcattttgggtcaGcaccaatttcttgaaggccc	11	10	2	1			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr5:52360756G>A	ENST00000296585.5	+	14	1760	c.1617G>A	c.(1615-1617)caG>caA	p.Q539Q		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	539					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)	p.Q539Q(2)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TTTTGGGTCAGCACCAATTTC	0.428																																						ENST00000296585.5																			2	Substitution - coding silent(2)	p.Q539Q(2)	lung(2)	breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1615-1617)caG>caA		integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)							111	115	113					5																	52360756		2203	4300	6503	SO:0001819	synonymous_variant	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52360756G>A		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"CD molecules", "Integrins"	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.1617G>A	5.37:g.52360756G>A							p.Q539Q	NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN			14	1760	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	539					Q14595	Silent	SNP	ENST00000296585.5	37	c.1617G>A	CCDS3957.1																																																																																				0.428	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		3	104	0	0	0	1	0	3	104					A	52360756	G	A	52360756	2	1	241	1	0	0	0	0	0	0	0	1	7875	962	34	2		2	ITGA2	5	52360756	Silent	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08		52360756	128554504	9	5194											
PCSK1	5122	broad.mit.edu	37	chr5	95735751	95735751	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaatccaccagagctttggCatttagcaagccaaatccaa	6	11	0	1			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr5:95735751C>T	ENST00000311106.3	-	10	1573	c.1336G>A	c.(1336-1338)Gcc>Acc	p.A446T	PCSK1_ENST00000508626.1_Missense_Mutation_p.A399T|PCSK1_ENST00000513085.1_5'UTR|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	446	Peptidase S8.				cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	AGAGCTTTGGCATTTAGCAAG	0.493																																						ENST00000311106.3																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36						c.(1336-1338)Gcc>Acc		proprotein convertase subtilisin/kexin type 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						118	111	113					5																	95735751		2203	4300	6503	SO:0001583	missense	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95735751C>T		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"prohormone convertase 3", "prohormone convertase 1", "neuroendocrine convertase 1", "proprotein convertase 1"	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.1336G>A	5.37:g.95735751C>T	ENSP00000308024:p.Ala446Thr					PCSK1_ENST00000513085.1_5'UTR|PCSK1_ENST00000508626.1_Missense_Mutation_p.A399T|CTD-2337A12.1_ENST00000502645.2_RNA	p.A446T	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	10	1573	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	446					B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	ENST00000311106.3	37	c.1336G>A	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	C	34	5.312467	0.95655	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	D;D	0.89050	-2.46;-2.46	5.35	5.35	0.76521	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.095078	0.64402	D	0.000001	D	0.95089	0.8409	M	0.84773	2.715	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.74348	0.932;0.983	D	0.95461	0.8543	10	0.87932	D	0	-16.8571	19.0312	0.92957	0.0:1.0:0.0:0.0	.	399;446	E9PHA1;P29120	.;NEC1_HUMAN	T	446;399	ENSP00000308024:A446T;ENSP00000421600:A399T	ENSP00000308024:A446T	A	-	1	0	PCSK1	95761507	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.268000	0.78473	2.661000	0.90470	0.557000	0.71058	GCC		0.493	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		47	49	0	0	0	1	0	47	49					T	95735751	C	T	95735751	3	4	241	1	0	0	0	0	1	0	0	0	11600	710	25	2	945	2	PCSK1	5	95735751	Missense_Mutation	SNP	C	TCGA-EL-A3T9-01A-21D-A22D-08	43374995	95735751	85179509	10	5195											
KDM3B	51780	broad.mit.edu	37	chr5	137727661	137727661	+	Frame_Shift_Del	DEL	G	G	-													ggcggctttctgtcctccccGgcagatttttcacaggagaa					rs187275789		TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr5:137727661delG	ENST00000314358.5	+	8	2540	c.2340delG	c.(2338-2340)ccgfs	p.P780fs	KDM3B_ENST00000542866.1_Intron|KDM3B_ENST00000394866.1_Frame_Shift_Del_p.P436fs	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	780					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TGTCCTCCCCGGCAGATTTTT	0.532																																						ENST00000314358.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						c.(2338-2340)ccfs		lysine (K)-specific demethylase 3B							177	196	189					5																	137727661		2203	4300	6503	SO:0001589	frameshift_variant	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137727661delG	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"Chromatin-modifying enzymes / K-demethylases"	1337	protein-coding gene	gene with protein product		609373	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.2340delG	5.37:g.137727661delG	ENSP00000326563:p.Pro780fs					KDM3B_ENST00000394866.1_Frame_Shift_Del_p.P436fs|KDM3B_ENST00000542866.1_Intron	p.P780fs	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN			8	2540	+			780					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Frame_Shift_Del	DEL	ENST00000314358.5	37	c.2340delG	CCDS34242.1																																																																																				0.532	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		193	270						193	270	---	---	---	---	-	137727661	G	-	137727661	7	5	241	1	0	1	0	1	0	0	0	0	8127	1103	39	0	2370	0	KDM3B	5	137727661	Frame_Shift_Del	DEL	G	TCGA-EL-A3T9-01A-21D-A22D-08	41991910	137727661	43187599	11	5196											
HSPA1L	3305	broad.mit.edu	37	chr6	31779208	31779208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaaaccataggcaatggcaGcagccgtgggctcattgatg	12	10	1	1			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr6:31779208G>A	ENST00000375654.4	-	2	731	c.542C>T	c.(541-543)gCt>gTt	p.A181V	HSPA1L_ENST00000417199.3_Missense_Mutation_p.A181V	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	181					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GGCAATGGCAGCAGCCGTGGG	0.458																																						ENST00000375654.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(541-543)gCt>gTt		heat shock 70kDa protein 1-like							95	84	88					6																	31779208		2203	4300	6503	SO:0001583	missense	0				response to unfolded protein		ATP binding	g.chr6:31779208G>A	D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"Heat shock proteins / HSP70"	5234	protein-coding gene	gene with protein product		140559	"heat shock 70kD protein-like 1"			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.542C>T	6.37:g.31779208G>A	ENSP00000364805:p.Ala181Val					HSPA1L_ENST00000417199.3_Missense_Mutation_p.A181V	p.A181V	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN			2	731	-			181					A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	c.542C>T	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125224	0.77436	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653;ENST00000424494	T;T	0.13657	2.57;2.57	4.66	4.66	0.58398	.	.	.	.	.	T	0.47451	0.1446	H	0.99650	4.68	0.80722	D	1	D	0.55605	0.972	P	0.57776	0.827	T	0.72001	-0.4422	9	0.87932	D	0	.	15.0885	0.72174	0.0:0.0:1.0:0.0	.	181	P34931	HS71L_HUMAN	V	181;181;126;71	ENSP00000364805:A181V;ENSP00000387691:A181V	ENSP00000364804:A126V	A	-	2	0	HSPA1L	31887187	1.000000	0.71417	0.997000	0.53966	0.959000	0.62525	9.652000	0.98499	2.410000	0.81850	0.460000	0.39030	GCT		0.458	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			3	72	0	0	0	1	0	3	72					A	31779208	G	A	31779208	3	1	241	1	0	0	0	0	1	0	0	0	7410	971	34	2	1387	2	HSPA1L	6	31779208	Missense_Mutation	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08		31779208	139335859	12	5197											
KIAA0415	9907	broad.mit.edu	37	chr7	4830986	4830986	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcacggtcagccggctggtGgagagggaggccggcctcat	18	12	2	1			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr7:4830986G>T	ENST00000348624.4	+	17	2488	c.2394G>T	c.(2392-2394)gtG>gtT	p.V798V	AP5Z1_ENST00000490487.1_3'UTR|MIR4656_ENST00000579503.1_RNA	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	798					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)											GCCGGCTGGTGGAGAGGGAGG	0.667																																						ENST00000348624.4																			0											c.(2392-2394)gtG>gtT		adaptor-related protein complex 5, zeta 1 subunit							15	19	18					7																	4830986		2014	4177	6191	SO:0001819	synonymous_variant	9907				cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding	g.chr7:4830986G>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.2394G>T	7.37:g.4830986G>T						AP5Z1_ENST00000490487.1_3'UTR	p.V798V	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN			17	2488	+			798					Q8N3X2|Q96H80	Silent	SNP	ENST00000348624.4	37	c.2394G>T	CCDS47528.1																																																																																				0.667	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			18	28	1	0	1.02788e-11	1	1.10497e-11	18	28					T	4830986	G	T	4830986	2	4	241	1	0	0	0	0	0	0	0	1	8175	1335	47	4		4	KIAA0415	7	4830986	Silent	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08		4830986	154307677	13	5198											
FLNC	2318	broad.mit.edu	37	chr7	128494189	128494189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtccacccaggtcggcgggGaccccttccctgctgtgttt	12	15	0	0			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr7:128494189G>A	ENST00000325888.8	+	40	6907	c.6646G>A	c.(6646-6648)Gac>Aac	p.D2216N	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.D2183N	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2216	Intradomain insert; mediate targeting to Z lines.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGTCGGCGGGGACCCCTTCCC	0.697																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(6646-6648)Gac>Aac		filamin C, gamma							21	28	26					7																	128494189		1987	4140	6127	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128494189G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.6646G>A	7.37:g.128494189G>A	ENSP00000327145:p.Asp2216Asn					RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.D2183N	p.D2216N	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			40	6907	+			2216			Intradomain insert.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.6646G>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176343	0.78564	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.85556	-2.0;-2.0	5.64	5.64	0.86602	.	0.142156	0.49916	D	0.000131	T	0.73598	0.3607	N	0.08118	0	0.52501	D	0.99995	B;B	0.33238	0.403;0.244	B;B	0.30855	0.121;0.018	T	0.76629	-0.2889	10	0.72032	D	0.01	.	17.1975	0.86897	0.0:0.0:1.0:0.0	.	2183;2216	Q14315-2;Q14315	.;FLNC_HUMAN	N	2216;2183	ENSP00000327145:D2216N;ENSP00000344002:D2183N	ENSP00000327145:D2216N	D	+	1	0	FLNC	128281425	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	6.140000	0.71738	2.655000	0.90218	0.655000	0.94253	GAC		0.697	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			30	38	0	0	0	1	0	30	38					A	128494189	G	A	128494189	3	1	241	1	0	0	0	0	1	0	0	0	5935	1174	41	2	6804	2	FLNC	7	128494189	Missense_Mutation	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08	123663203	128494189	30644474	14	5199											
GPT	2875	broad.mit.edu	37	chr8	145730778	145730778	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgaggagcgtgcctgggcGctggacgtggccgagcttca	18	11	1	0			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr8:145730778G>A	ENST00000528431.1	+	6	802	c.645G>A	c.(643-645)gcG>gcA	p.A215A	GPT_ENST00000394955.2_Silent_p.A215A			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	215					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(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)		L-Alanine(DB00160)|Phenelzine(DB00780)	GTGCCTGGGCGCTGGACGTGG	0.672																																						ENST00000394955.2																			0				central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5						c.(643-645)gcG>gcA		glutamic-pyruvate transaminase (alanine aminotransferase)	L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						31	25	27					8																	145730778		2182	4285	6467	SO:0001819	synonymous_variant	2875				gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr8:145730778G>A		CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2.6.1.2		4552	protein-coding gene	gene with protein product		138200					Standard	NM_005309		Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	ENST00000528431.1:c.645G>A	8.37:g.145730778G>A						GPT_ENST00000528431.1_Silent_p.A215A	p.A215A	NM_005309.2	NP_005300.1	P24298	ALAT1_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)		5	868	+	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)		215					B0YJ18|D3DWM7|P78398|Q93076	Silent	SNP	ENST00000528431.1	37	c.645G>A	CCDS6430.1																																																																																				0.672	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382471.1			3	39	0	0	0	1	0	3	39					A	145730778	G	A	145730778	2	1	241	1	0	0	0	0	0	0	0	1	6737	1074	38	1		1	GPT	8	145730778	Silent	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08		145730778	633244	15	5200											
STOML2	30968	broad.mit.edu	37	chr9	35102741	35102741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacccaggcctcctgctgcGgcacgaacagtaccacggtg	11	17	0	0			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr9:35102741G>A	ENST00000356493.5	-	2	187	c.125C>T	c.(124-126)cCg>cTg	p.P42L	STOML2_ENST00000452248.2_Missense_Mutation_p.P42L|STOML2_ENST00000487490.1_5'Flank	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	42					CD4-positive, alpha-beta T cell activation (GO:0035710)|cellular calcium ion homeostasis (GO:0006874)|interleukin-2 production (GO:0032623)|lipid localization (GO:0010876)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|mitochondrial calcium ion transport (GO:0006851)|mitochondrial protein processing (GO:0034982)|mitochondrion organization (GO:0007005)|positive regulation of cardiolipin metabolic process (GO:1900210)|positive regulation of mitochondrial DNA replication (GO:0090297)|positive regulation of mitochondrial membrane potential (GO:0010918)|protein oligomerization (GO:0051259)|stress-induced mitochondrial fusion (GO:1990046)|T cell receptor signaling pathway (GO:0050852)	cytoskeleton (GO:0005856)|extrinsic component of plasma membrane (GO:0019897)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	cardiolipin binding (GO:1901612)|receptor binding (GO:0005102)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTCCTGCTGCGGCACGAACAG	0.642																																						ENST00000356493.5																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16						c.(124-126)cCg>cTg		stomatin (EPB72)-like 2							59	66	64					9																	35102741		2203	4300	6503	SO:0001583	missense	30968					cytoskeleton	receptor binding	g.chr9:35102741G>A	AF190167	CCDS6577.1, CCDS69588.1, CCDS75830.1	9p13.1	2008-02-05			ENSG00000165283	ENSG00000165283			14559	protein-coding gene	gene with protein product		608292				10713127, 17121834	Standard	NM_001287031		Approved	SLP-2, HSPC108	uc003zwi.3	Q9UJZ1	OTTHUMG00000019851	ENST00000356493.5:c.125C>T	9.37:g.35102741G>A	ENSP00000348886:p.Pro42Leu					STOML2_ENST00000452248.2_Missense_Mutation_p.P42L	p.P42L	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		2	187	-			42					B4E1K7|D3DRN3|O60376|Q53G29|Q96FY2|Q9P042	Missense_Mutation	SNP	ENST00000356493.5	37	c.125C>T	CCDS6577.1	.	.	.	.	.	.	.	.	.	.	G	37	5.997984	0.97184	.	.	ENSG00000165283	ENST00000356493;ENST00000452248	D;D	0.95035	-3.59;-3.59	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.98235	0.9416	H	0.95745	3.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.978;1.0	D	0.98971	1.0801	10	0.87932	D	0	-25.8155	19.0059	0.92851	0.0:0.0:1.0:0.0	.	42;42	B4E1K7;Q9UJZ1	.;STML2_HUMAN	L	42	ENSP00000348886:P42L;ENSP00000395743:P42L	ENSP00000348886:P42L	P	-	2	0	STOML2	35092741	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.226000	0.95229	2.826000	0.97356	0.561000	0.74099	CCG		0.642	STOML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052273.1	NM_013442		52	111	0	0	0	1	0	52	111					A	35102741	G	A	35102741	3	1	241	1	0	0	0	0	1	0	0	0	15313	1116	39	1	981	1	STOML2	9	35102741	Missense_Mutation	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08		35102741	106110690	16	5201											
VWA2	340706	broad.mit.edu	37	chr10	116045883	116045883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagggagctgctggtggcgGtgcctgtgggggagtaccag	21	8	0	0			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr10:116045883G>A	ENST00000392982.3	+	11	1433	c.1183G>A	c.(1183-1185)Gtg>Atg	p.V395M	VWA2_ENST00000603594.1_Missense_Mutation_p.V395M			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	395	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		GCTGGTGGCGGTGCCTGTGGG	0.662																																						ENST00000603594.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26						c.(1183-1185)Gtg>Atg		von Willebrand factor A domain containing 2							78	74	75					10																	116045883		2203	4300	6503	SO:0001583	missense	340706					extracellular region		g.chr10:116045883G>A	AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.1183G>A	10.37:g.116045883G>A	ENSP00000376708:p.Val395Met					VWA2_ENST00000392982.3_Missense_Mutation_p.V395M	p.V395M	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN		Epithelial(162;0.036)|all cancers(201;0.0793)	11	1504	+			395			VWFA 2.		A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	ENST00000392982.3	37	c.1183G>A		.	.	.	.	.	.	.	.	.	.	G	14.13	2.444847	0.43429	.	.	ENSG00000165816	ENST00000392982;ENST00000298715	D	0.85013	-1.93	5.6	4.69	0.59074	von Willebrand factor, type A (3);	0.143356	0.46442	D	0.000283	D	0.91078	0.7192	M	0.77616	2.38	0.27933	N	0.937803	D;D;D	0.71674	0.998;0.993;0.997	D;D;D	0.69142	0.962;0.947;0.948	D	0.85517	0.1201	10	0.87932	D	0	.	12.5014	0.55957	0.1328:0.0:0.8672:0.0	.	91;395;395	Q5GFL6-3;Q5GFL6;Q5GFL6-2	.;VWA2_HUMAN;.	M	395	ENSP00000376708:V395M	ENSP00000298715:V395M	V	+	1	0	VWA2	116035873	0.990000	0.36364	0.952000	0.39060	0.036000	0.12997	2.004000	0.40854	2.625000	0.88918	0.563000	0.77884	GTG		0.662	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3	NM_198496		4	177	0	0	0	1	0	4	177					A	116045883	G	A	116045883	3	1	241	1	0	0	0	0	1	0	0	0	17236	1261	44	2	1221	2	VWA2	10	116045883	Missense_Mutation	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08		116045883	19488864	17	5202											
LDHAL6A	160287	broad.mit.edu	37	chr11	18500402	18500402	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactttgggaaattcagaaGgagctcaagctttaaagttg	10	6	2	1			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr11:18500402G>A	ENST00000280706.2	+	7	1781	c.984G>A	c.(982-984)aaG>aaA	p.K328K	LDHAL6A_ENST00000396213.3_Silent_p.K328K|TSG101_ENST00000536719.1_Intron	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	328					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	L-lactate dehydrogenase activity (GO:0004459)			large_intestine(3)|lung(9)|urinary_tract(1)	13						AAATTCAGAAGGAGCTCAAGC	0.348																																						ENST00000280706.2																			0				large_intestine(3)|lung(9)|urinary_tract(1)	13						c.(982-984)aaG>aaA		lactate dehydrogenase A-like 6A	NADH(DB00157)						126	138	133					11																	18500402		2199	4293	6492	SO:0001819	synonymous_variant	160287				glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	g.chr11:18500402G>A	AK131523	CCDS7841.1	11p15.1	2011-01-27			ENSG00000166800	ENSG00000166800			28335	protein-coding gene	gene with protein product						12477932	Standard	NM_001144071		Approved	MGC23940, LDH6A	uc001mop.1	Q6ZMR3	OTTHUMG00000167724	ENST00000280706.2:c.984G>A	11.37:g.18500402G>A						LDHAL6A_ENST00000396213.3_Silent_p.K328K|TSG101_ENST00000536719.1_Intron	p.K328K	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN			7	1781	+			328					D3DQY5	Silent	SNP	ENST00000280706.2	37	c.984G>A	CCDS7841.1																																																																																				0.348	LDHAL6A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395904.1	NM_144972		3	178	0	0	0	1	0	3	178					A	18500402	G	A	18500402	2	1	241	1	0	0	0	0	0	0	0	1	8699	991	35	2		2	LDHAL6A	11	18500402	Silent	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08		18500402	116506114	18	5203											
ETS1	2113	broad.mit.edu	37	chr11	128332410	128332410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtaatagtagcgtaggccaCggctcagtttctcataattc	9	10	2	0			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr11:128332410C>T	ENST00000319397.6	-	8	1481	c.1172G>A	c.(1171-1173)cGt>cAt	p.R391H	ETS1_ENST00000535549.1_Missense_Mutation_p.R175H|ETS1_ENST00000531611.1_3'UTR|ETS1_ENST00000526145.2_Missense_Mutation_p.R304H|ETS1_ENST00000345075.4_Missense_Mutation_p.R304H|ETS1_ENST00000392668.4_Missense_Mutation_p.R435H	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	391					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)		GCGTAGGCCACGGCTCAGTTT	0.458																																						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.(1303-1305)cGt>cAt		v-ets avian erythroblastosis virus E26 oncogene homolog 1							199	157	171					11																	128332410		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.chr11:128332410C>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.1172G>A	11.37:g.128332410C>T	ENSP00000324578:p.Arg391His					ETS1_ENST00000319397.5_Missense_Mutation_p.R391H|ETS1_ENST00000526145.1_Missense_Mutation_p.R304H|ETS1_ENST00000345075.4_Missense_Mutation_p.R304H|ETS1_ENST00000531611.1_3'UTR|ETS1_ENST00000535549.1_Missense_Mutation_p.R175H	p.R435H	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)	10	1372	-	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)	391					A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Missense_Mutation	SNP	ENST00000319397.6	37	c.1304G>A	CCDS8475.1	.	.	.	.	.	.	.	.	.	.	C	35	5.416038	0.96092	.	.	ENSG00000134954	ENST00000345075;ENST00000535549;ENST00000392668;ENST00000319397;ENST00000526145	T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42	5.96	5.96	0.96718	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (5);	0.051447	0.85682	D	0.000000	T	0.69646	0.3134	H	0.94462	3.54	0.80722	D	1	D;D;D	0.89917	0.991;1.0;1.0	P;D;D	0.97110	0.842;0.999;1.0	T	0.77427	-0.2592	10	0.87932	D	0	.	20.4043	0.99006	0.0:1.0:0.0:0.0	.	391;175;435	P14921;F5GYX9;Q6N087	ETS1_HUMAN;.;.	H	304;175;435;391;304	ENSP00000340485:R304H;ENSP00000441430:R175H;ENSP00000376436:R435H;ENSP00000324578:R391H;ENSP00000433500:R304H	ENSP00000324578:R391H	R	-	2	0	ETS1	127837620	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.823000	0.97156	0.650000	0.86243	CGT		0.458	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386269.2	NM_005238		21	42	0	0	0	1	0	21	42					T	128332410	C	T	128332410	3	4	241	1	0	0	0	0	1	0	0	0	5275	536	19	1	157	1	ETS1	11	128332410	Missense_Mutation	SNP	C	TCGA-EL-A3T9-01A-21D-A22D-08	109832008	128332410	6674106	19	5204											
LRP1	4035	broad.mit.edu	37	chr12	57553705	57553705	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaatcagcgtggccaggctGgagaaagctgctcagacccg	13	12	2	2			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr12:57553705G>A	ENST00000243077.3	+	12	2362	c.1896G>A	c.(1894-1896)ctG>ctA	p.L632L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	632					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)	TGGCCAGGCTGGAGAAAGCTG	0.567																																						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.(1894-1896)ctG>ctA		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						125	106	112					12																	57553705		2203	4300	6503	SO:0001819	synonymous_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.chr12:57553705G>A	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.1896G>A	12.37:g.57553705G>A							p.L632L	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	12	2362	+			632					Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.1896G>A	CCDS8932.1																																																																																				0.567	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		3	130	0	0	0	1	0	3	130					A	57553705	G	A	57553705	2	1	241	1	0	0	0	0	0	0	0	1	8951	1335	47	2		2	LRP1	12	57553705	Silent	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08		57553705	76298190	20	5205											
POC1B	282809	broad.mit.edu	37	chr12	89864264	89864264	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatatgcaattaactccaccGctgtgaactgatttgtagaa	8	8	0	3	rs185311452	byFrequency	TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr12:89864264G>A	ENST00000313546.3	-	7	812	c.684C>T	c.(682-684)agC>agT	p.S228S	POC1B_ENST00000549035.1_Silent_p.S186S|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000541909.1_Silent_p.S98S|POC1B_ENST00000378528.2_Intron|POC1B_ENST00000393179.4_Silent_p.S98S	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	228					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						TAACTCCACCGCTGTGAACTG	0.388													G|||	4	0.000798722	0	0	5008	,	,		12769	0.004		0	False		,,,				2504	0					ENST00000393179.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						c.(292-294)agC>agT		POC1 centriolar protein B							106	105	105					12																	89864264		2203	4300	6503	SO:0001819	synonymous_variant	282809							g.chr12:89864264G>A	AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"WD repeat domain containing"	30836	protein-coding gene	gene with protein product		614784	"WD repeat domain 51B", "POC1 centriolar protein homolog B (Chlamydomonas)"	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.684C>T	12.37:g.89864264G>A						POC1B_ENST00000549035.1_Silent_p.S186S|POC1B_ENST00000313546.3_Silent_p.S228S|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000541909.1_Silent_p.S98S|POC1B_ENST00000378528.2_Intron	p.S98S							5	907	-								G3V1X0	Silent	SNP	ENST00000313546.3	37	c.294C>T	CCDS31869.1																																																																																				0.388	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406637.1	NM_172240		3	68	0	0	0	1	0	3	68					A	89864264	G	A	89864264	2	1	241	1	0	0	0	0	0	0	0	1	12176	1078	38	1		1	POC1B	12	89864264	Silent	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08	32310559	89864264	43987631	21	5206											
GPR135	64582	broad.mit.edu	37	chr14	59930877	59930877	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatggtctgggcctgccgGgcggcggccagcagcaccag	17	14	1	0			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr14:59930877G>A	ENST00000395116.1	-	1	1183	c.1068C>T	c.(1066-1068)gcC>gcT	p.A356A		NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	356						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.134)		GGGCCTGCCGGGCGGCGGCCA	0.667																																						ENST00000395116.1																			0				breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1066-1068)gcC>gcT		G protein-coupled receptor 135							15	16	15					14																	59930877		2183	4280	6463	SO:0001819	synonymous_variant	64582					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:59930877G>A	AY288418	CCDS9738.1	14q23.1	2012-08-21			ENSG00000181619	ENSG00000181619		"GPCR / Class A : Orphans"	19991	protein-coding gene	gene with protein product		607970				14623098	Standard	NM_022571		Approved	HUMNPIIY20, PAFR	uc010apj.3	Q8IZ08	OTTHUMG00000140325	ENST00000395116.1:c.1068C>T	14.37:g.59930877G>A							p.A356A	NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.134)	1	1183	-			356					Q7Z604|Q86SM3|Q8NH39	Silent	SNP	ENST00000395116.1	37	c.1068C>T	CCDS9738.1																																																																																				0.667	GPR135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276941.1	NM_022571		5	16	0	0	0	1	0	5	16					A	59930877	G	A	59930877	2	1	241	1	0	0	0	0	0	0	0	1	6644	1219	43	2		2	GPR135	14	59930877	Silent	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08		59930877	47418663	22	5207											
NTRK3	4916	broad.mit.edu	37	chr15	88679156	88679156	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtgagggcaacactggcaTtgctcatgcccaccacgttc	10	14	1	1	rs372972530		TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr15:88679156T>G	ENST00000360948.2	-	8	1042	c.881A>C	c.(880-882)aAt>aCt	p.N294T	NTRK3_ENST00000558676.1_Missense_Mutation_p.N294T|NTRK3_ENST00000557856.1_Missense_Mutation_p.N294T|NTRK3_ENST00000542733.2_Missense_Mutation_p.N196T|NTRK3_ENST00000357724.2_Missense_Mutation_p.N294T|NTRK3_ENST00000355254.2_Missense_Mutation_p.N294T|NTRK3_ENST00000317501.3_Missense_Mutation_p.N294T|NTRK3_ENST00000540489.2_Missense_Mutation_p.N294T|NTRK3_ENST00000394480.2_Missense_Mutation_p.N294T	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	294	Ig-like C2-type 1.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AACACTGGCATTGCTCATGCC	0.542			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)																												ENST00000394480.1				Dom	yes		15	15q25	4916	T	"neurotrophic tyrosine kinase, receptor, type 3"			"E, M"	ETV6		"congenital fibrosarcoma, Secretory breast "	ETV6/NTRK3(238)	0				breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119						c.(880-882)aAt>aCt		neurotrophic tyrosine kinase, receptor, type 3							208	129	156					15																	88679156		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88679156T>G	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.881A>C	15.37:g.88679156T>G	ENSP00000354207:p.Asn294Thr	TSP Lung(13;0.10)				NTRK3_ENST00000540489.2_Missense_Mutation_p.N294T|NTRK3_ENST00000558676.1_Missense_Mutation_p.N294T|NTRK3_ENST00000360948.2_Missense_Mutation_p.N294T|NTRK3_ENST00000557856.1_Missense_Mutation_p.N294T|NTRK3_ENST00000542733.2_Missense_Mutation_p.N196T|NTRK3_ENST00000357724.2_Missense_Mutation_p.N294T|NTRK3_ENST00000317501.3_Missense_Mutation_p.N294T|NTRK3_ENST00000355254.2_Missense_Mutation_p.N294T	p.N294T	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		9	1202	-			294			Ig-like C2-type 1.		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.881A>C	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	T	17.47	3.396473	0.62177	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.51	4.36	0.52297	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.089884	0.85682	N	0.000000	T	0.61388	0.2343	N	0.25144	0.715	0.52099	D	0.999949	P;P;B;D;P;B	0.62365	0.84;0.811;0.142;0.991;0.814;0.071	P;B;B;P;B;B	0.57720	0.474;0.433;0.216;0.826;0.38;0.065	T	0.63462	-0.6632	10	0.59425	D	0.04	.	11.5562	0.50750	0.0:0.0:0.1501:0.8499	.	196;294;294;294;294;294	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	T	294;294;294;294;196;294;294	ENSP00000377990:N294T;ENSP00000354207:N294T;ENSP00000350356:N294T;ENSP00000347397:N294T;ENSP00000437773:N196T;ENSP00000444673:N294T;ENSP00000318328:N294T	ENSP00000318328:N294T	N	-	2	0	NTRK3	86480160	1.000000	0.71417	0.990000	0.47175	0.947000	0.59692	7.853000	0.86934	0.895000	0.36342	0.460000	0.39030	AAT		0.542	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				33	63	0	0	0	1	0	33	63					G	88679156	T	G	88679156	3	3	241	1	0	0	0	0	1	0	0	0	10708	1493	52	5	1948	5	NTRK3	15	88679156	Missense_Mutation	SNP	T	TCGA-EL-A3T9-01A-21D-A22D-08		88679156	13852236	23	5208											
PALB2	79728	broad.mit.edu	37	chr16	23646583	23646583	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acatccaaatgactctgaatGacagcctccacggctacttt	6	13	1	3			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr16:23646583G>T	ENST00000261584.4	-	4	1436	c.1284C>A	c.(1282-1284)gtC>gtA	p.V428V		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	428	ChAM (Chromatin-association motif); required for chromatin association, mediates nucleosome association.|DNA-binding (with the preference D loop > dsDNA > ssDNA).				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		GACTCTGAATGACAGCCTCCA	0.393			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks																														ENST00000261584.4			yes	Rec		"Fanconi anaemia N, breast cancer susceptibility "	16	16p12.1	79728	"F, N, Mis"	partner and localizer of BRCA2			"L, O, E"		"Wilms tumor, medulloblastoma, AML ,breast"			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(1282-1284)gtC>gtA	Involved in tolerance or repair of DNA crosslinks	partner and localizer of BRCA2							71	75	74					16																	23646583		2195	4300	6495	SO:0001819	synonymous_variant	79728				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	g.chr16:23646583G>T		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"Fanconi anemia, complementation groups"	26144	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group N"	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.1284C>A	16.37:g.23646583G>T							p.V428V	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN		GBM - Glioblastoma multiforme(48;0.0167)	4	1436	-			428					A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Silent	SNP	ENST00000261584.4	37	c.1284C>A	CCDS32406.1																																																																																				0.393	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		3	85	1	0	1	1	1	3	85					T	23646583	G	T	23646583	2	4	241	1	0	0	0	0	0	0	0	1	11406	1277	45	4		4	PALB2	16	23646583	Silent	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08		23646583	66708170	24	5209											
ITGAL	3683	broad.mit.edu	37	chr16	30510706	30510706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgcagctggatggccacCggaccagaagacgggggttg	16	11	1	2			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr16:30510706C>T	ENST00000356798.6	+	17	2221	c.2041C>T	c.(2041-2043)Cgg>Tgg	p.R681W	RP11-297C4.1_ENST00000563751.1_RNA|ITGAL_ENST00000358164.5_Missense_Mutation_p.R598W|ITGAL_ENST00000433423.2_Missense_Mutation_p.R77W	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	681					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	GGATGGCCACCGGACCAGAAG	0.537																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(2041-2043)Cgg>Tgg		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						117	113	114					16																	30510706		2197	4300	6497	SO:0001583	missense	0				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30510706C>T		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"CD molecules", "Integrins"	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.2041C>T	16.37:g.30510706C>T	ENSP00000349252:p.Arg681Trp					RP11-297C4.1_ENST00000563751.1_RNA|ITGAL_ENST00000358164.5_Missense_Mutation_p.R598W|ITGAL_ENST00000433423.2_Missense_Mutation_p.R77W	p.R681W	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			17	2221	+			681					O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	c.2041C>T	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.011749	0.35511	.	.	ENSG00000005844	ENST00000356798;ENST00000358164;ENST00000433423	T;T;T	0.52295	0.67;0.67;1.34	5.79	5.79	0.91817	Integrin alpha-2 (1);	0.000000	0.51477	D	0.000096	T	0.69160	0.3080	M	0.80847	2.515	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.72530	-0.4265	10	0.87932	D	0	.	12.5499	0.56222	0.1661:0.8339:0.0:0.0	.	77;598;681	B4E021;Q96HB1;P20701	.;.;ITAL_HUMAN	W	681;598;77	ENSP00000349252:R681W;ENSP00000350886:R598W;ENSP00000409377:R77W	ENSP00000349252:R681W	R	+	1	2	ITGAL	30418207	0.275000	0.24201	1.000000	0.80357	0.502000	0.33828	0.223000	0.17719	2.753000	0.94483	0.650000	0.86243	CGG		0.537	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			57	185	0	0	0	1	0	57	185					T	30510706	C	T	30510706	3	4	241	1	0	0	0	0	1	0	0	0	7886	643	23	1	2107	1	ITGAL	16	30510706	Missense_Mutation	SNP	C	TCGA-EL-A3T9-01A-21D-A22D-08	6864123	30510706	59844047	25	5210											
ELMO3	79767	broad.mit.edu	37	chr16	67237636	67237636	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcgagcagacacggctGgacctggagcagctgctgac	16	12	0	2			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr16:67237636G>A	ENST00000360833.1	+	19	2184	c.2127G>A	c.(2125-2127)ctG>ctA	p.L709L	MIR328_ENST00000385213.1_RNA|ELMO3_ENST00000477898.1_Silent_p.L560L|ELMO3_ENST00000393997.2_Silent_p.L726L			Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	673					apoptotic process (GO:0006915)|phagocytosis (GO:0006909)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		AGACACGGCTGGACCTGGAGC	0.672																																						ENST00000393997.2																			0				cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18						c.(2176-2178)ctG>ctA		engulfment and cell motility 3							39	46	44					16																	67237636		2139	4232	6371	SO:0001819	synonymous_variant	79767				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding	g.chr16:67237636G>A		CCDS10833.2	16q22.1	2010-03-18	2006-01-20		ENSG00000102890	ENSG00000102890		"Engulfment and cell motility proteins"	17289	protein-coding gene	gene with protein product		606422	"engulfment and cell motility 3 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_024712		Approved	FLJ13824, CED12, ELMO-3, CED-12	uc002esa.3	Q96BJ8	OTTHUMG00000133570	ENST00000360833.1:c.2127G>A	16.37:g.67237636G>A						ELMO3_ENST00000477898.1_Silent_p.L560L|ELMO3_ENST00000360833.1_Silent_p.L709L	p.L726L	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)	20	2235	+		Ovarian(137;0.0563)	673					B4DV86|Q9H8A5	Silent	SNP	ENST00000360833.1	37	c.2178G>A																																																																																					0.672	ELMO3-001	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000257667.2	NM_024712		4	139	0	0	0	1	0	4	139					A	67237636	G	A	67237636	2	1	241	1	0	0	0	0	0	0	0	1	5067	1335	47	2		2	ELMO3	16	67237636	Silent	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08	36726930	67237636	23117117	26	5211											
CAPS	8498	broad.mit.edu	37	chr19	5915243	5915243	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttcccaggtcacactggcGgaattccaggactactacag	10	12	1	0	rs371122890		TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr19:5915243G>A	ENST00000340578.6	-	0	3233				CAPS_ENST00000222125.5_Silent_p.A160A|CAPS_ENST00000588776.1_Silent_p.A246A|AC104532.4_ENST00000591109.1_RNA|CAPS_ENST00000452990.2_Silent_p.A133A	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3						intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						TCACACTGGCGGAATTCCAGG	0.667																																						ENST00000588776.1																			0				cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	4						c.(736-738)gcG>gcA		calcyphosine		G	,	0,4406		0,0,2203	73	65	68		480,399	-11.2	0.0	19		68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CAPS	NM_004058.3,NM_080590.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	160/190,133/163	5915243	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	828				intracellular signal transduction	cytoplasm	calcium ion binding	g.chr19:5915243G>A	Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4			19.37:g.5915243G>A						CAPS_ENST00000222125.5_Silent_p.A160A|CAPS_ENST00000452990.2_Silent_p.A133A	p.A246A			Q13938	CAYP1_HUMAN			5	3105	+			160					B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Silent	SNP	ENST00000340578.6	37	c.738G>A	CCDS42478.1																																																																																				0.667	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452304.1	NM_007322		18	37	0	0	0	1	0	18	37					A	5915243	G	A	5915243	1	1	241	0	1	0	0	0	0	0	0	0	2637	1103	39	1		1	CAPS	19	5915243	IGR	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08		5915243	53213740	27	5212											
ZNF414	84330	broad.mit.edu	37	chr19	8576745	8576745	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctctcggtccagggccggGggtggcggcggggctgggct	23	11	1	0			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr19:8576745G>A	ENST00000255616.8	-	5	731	c.630C>T	c.(628-630)ccC>ccT	p.P210P	ZNF414_ENST00000393927.4_Silent_p.P210P	NM_032370.2	NP_115746.2	Q96IQ9	ZN414_HUMAN	zinc finger protein 414	210					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			lung(2)	2						CCAGGGCCGGGGGTGGCGGCG	0.726																																						ENST00000393927.4																			0				lung(2)	2						c.(628-630)ccC>ccT		zinc finger protein 414							4	6	5					19																	8576745		1631	3504	5135	SO:0001819	synonymous_variant	84330				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:8576745G>A	AK074191	CCDS12205.1, CCDS54211.1	19p13.2	2008-02-05				ENSG00000133250		"Zinc fingers, C2H2-type"	20630	protein-coding gene	gene with protein product							Standard	NM_032370		Approved	MGC15716, Zfp414	uc002mke.4	Q96IQ9		ENST00000255616.8:c.630C>T	19.37:g.8576745G>A						ZNF414_ENST00000255616.8_Silent_p.P210P	p.P210P	NM_001146175.1	NP_001139647.1	Q96IQ9	ZN414_HUMAN			5	743	-			210					A8MY94	Silent	SNP	ENST00000255616.8	37	c.630C>T	CCDS12205.1																																																																																				0.726	ZNF414-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460199.2	NM_032370		3	5	0	0	0	1	0	3	5					A	8576745	G	A	8576745	2	1	241	1	0	0	0	0	0	0	0	1	17888	1219	43	2		2	ZNF414	19	8576745	Silent	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08	2661502	8576745	50552238	28	5213											
LOC729991-MEF2B	100271849	broad.mit.edu	37	chr19	19258532	19258532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggggtcggggcaaggccGgatcacccccttcgcctgcc	15	17	1	0			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr19:19258532G>A	ENST00000602424.2	-	6	1094	c.368C>T	c.(367-369)cCg>cTg	p.P123L	MEF2B_ENST00000410050.1_Missense_Mutation_p.P123L|MEF2B_ENST00000409224.1_Missense_Mutation_p.P126L|MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.P140L|MEF2B_ENST00000424583.2_Missense_Mutation_p.P123L|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2B_ENST00000162023.5_Missense_Mutation_p.P123L|MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.P123L|MEF2B_ENST00000409447.2_Missense_Mutation_p.P123L	NM_005919.3	NP_005910.1	Q02080	MEF2B_HUMAN	myocyte enhancer factor 2B	123					muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|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 transcription factor activity (GO:0003700)			breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			GGGCAAGGCCGGATCACCCCC	0.627																																						ENST00000602424.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28						c.(367-369)cCg>cTg		myocyte enhancer factor 2B							67	68	68					19																	19258532		2203	4300	6503	SO:0001583	missense	100271849							g.chr19:19258532G>A	X63380	CCDS12394.1, CCDS46024.1	19p13.11	2010-05-12	2007-04-24					"Myocyte enhancer factors"	6995	protein-coding gene	gene with protein product		600661				1516833, 8575763	Standard	NM_001145785		Approved	RSRFR2	uc002nll.2	Q02080		ENST00000602424.2:c.368C>T	19.37:g.19258532G>A	ENSP00000473308:p.Pro123Leu					MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.P140L|MEF2B_ENST00000424583.2_Missense_Mutation_p.P123L|MEF2B_ENST00000410050.1_Missense_Mutation_p.P123L|MEF2B_ENST00000409447.2_Missense_Mutation_p.P123L|MEF2B_ENST00000409224.1_Missense_Mutation_p.P126L|MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.P123L|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2B_ENST00000162023.5_Missense_Mutation_p.P123L	p.P123L	NM_005919.3	NP_005910.1			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)		6	1094	-								A0AV80|B4DVH7|B7ZVY1|G5E9M1	Missense_Mutation	SNP	ENST00000602424.2	37	c.368C>T	CCDS12394.1	.	.	.	.	.	.	.	.	.	.	G	5.079	0.200243	0.09652	.	.	ENSG00000213999	ENST00000409224;ENST00000424583;ENST00000410050;ENST00000444486;ENST00000409447;ENST00000162023	D;D;D;D;D	0.85861	-2.04;-2.02;-1.87;-2.01;-2.02	5.15	2.8	0.32819	.	0.629540	0.15163	N	0.277044	T	0.63355	0.2504	N	0.04880	-0.145	0.35343	D	0.786665	B;B;B;B;B	0.15930	0.012;0.015;0.005;0.01;0.006	B;B;B;B;B	0.10450	0.005;0.003;0.002;0.003;0.001	T	0.57751	-0.7757	10	0.07990	T	0.79	-4.8687	5.3856	0.16216	0.2963:0.0:0.7037:0.0	.	123;170;123;123;126	Q02080;B8ZZJ5;C9J4J4;G5E9M1;B3KQ23	MEF2B_HUMAN;.;.;.;.	L	126;123;123;123;170;123	ENSP00000386480:P126L;ENSP00000402154:P123L;ENSP00000386374:P123L;ENSP00000390762:P123L;ENSP00000162023:P123L	ENSP00000162023:P123L	P	-	2	0	MEF2B	19119532	0.995000	0.38212	0.998000	0.56505	0.966000	0.64601	3.177000	0.50871	1.139000	0.42245	0.561000	0.74099	CCG		0.627	MEF2B-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_005919		3	114	0	0	0	1	0	3	114					A	19258532	G	A	19258532	3	1	241	1	0	0	0	0	1	0	0	0	8889	1116	39	1	749	1	LOC729991-MEF2B	19	19258532	Missense_Mutation	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08	10681787	19258532	39870451	29	5214											
ZNF681	148213	broad.mit.edu	37	chr19	23927314	23927314	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgtgaggactggttaaaGgctttgccacattcttcaca	11	8	2	1			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr19:23927314G>A	ENST00000402377.3	-	4	1179	c.1038C>T	c.(1036-1038)gcC>gcT	p.A346A	ZNF681_ENST00000395385.3_Silent_p.A277A	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	346					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ACTGGTTAAAGGCTTTGCCAC	0.433																																						ENST00000402377.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21						c.(1036-1038)gcC>gcT		zinc finger protein 681							88	91	90					19																	23927314		2203	4300	6503	SO:0001819	synonymous_variant	148213				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:23927314G>A	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"Zinc fingers, C2H2-type", "-"	26457	protein-coding gene	gene with protein product	"hypothetical protein FLJ31526"						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1038C>T	19.37:g.23927314G>A						ZNF681_ENST00000395385.3_Silent_p.A277A	p.A346A	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN			4	1179	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	346					B3KVF7	Silent	SNP	ENST00000402377.3	37	c.1038C>T	CCDS12414.2																																																																																				0.433	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286		3	73	0	0	0	1	0	3	73					A	23927314	G	A	23927314	2	1	241	1	0	0	0	0	0	0	0	1	18085	987	35	2		2	ZNF681	19	23927314	Silent	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08	4668782	23927314	35201669	30	5215											
COL20A1	57642	broad.mit.edu	37	chr20	61941834	61941834	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctatgagggcggggttggCgaaggcctgcggggcctggt	20	8	1	1			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr20:61941834C>T	ENST00000358894.6	+	11	1465	c.1365C>T	c.(1363-1365)ggC>ggT	p.G455G	COL20A1_ENST00000326996.6_Silent_p.G455G|COL20A1_ENST00000435874.1_Silent_p.G462G|COL20A1_ENST00000422202.1_Silent_p.G462G	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	455	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GCGGGGTTGGCGAAGGCCTGC	0.687																																						ENST00000422202.1																			0				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36						c.(1384-1386)ggC>ggT		collagen, type XX, alpha 1							16	19	18					20																	61941834		1989	4150	6139	SO:0001819	synonymous_variant	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61941834C>T	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"Collagens", "Fibronectin type III domain containing"	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.1365C>T	20.37:g.61941834C>T						COL20A1_ENST00000326996.6_Silent_p.G455G|COL20A1_ENST00000435874.1_Silent_p.G462G|COL20A1_ENST00000358894.6_Silent_p.G455G	p.G462G			Q9P218	COKA1_HUMAN			10	1454	+	all_cancers(38;1.39e-10)		455			Fibronectin type-III 2.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Silent	SNP	ENST00000358894.6	37	c.1386C>T	CCDS46628.1																																																																																				0.687	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		3	12	0	0	0	1	0	3	12					T	61941834	C	T	61941834	2	4	241	1	0	0	0	0	0	0	0	1	3679	755	27	1		1	COL20A1	20	61941834	Silent	SNP	C	TCGA-EL-A3T9-01A-21D-A22D-08		61941834	1083686	31	5216											
TMEM50B	757	broad.mit.edu	37	chr21	34839360	34839360	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacaccacatgtgtgaaaggCatggttcaactgttctggct	10	9	2	1			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr21:34839360C>A	ENST00000542230.2	-	3	383	c.169G>T	c.(169-171)Gcc>Tcc	p.A57S	AP000301.1_ENST00000581654.1_RNA	NM_006134.6	NP_006125.2	P56557	TM50B_HUMAN	transmembrane protein 50B	57						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|ovary(1)|skin(1)	4						GTGTGAAAGGCATGGTTCAAC	0.368																																						ENST00000542230.2																			0				breast(1)|kidney(1)|ovary(1)|skin(1)	4						c.(169-171)Gcc>Tcc		transmembrane protein 50B							146	132	137					21																	34839360		2203	4300	6503	SO:0001583	missense	757					endoplasmic reticulum|integral to membrane|plasma membrane		g.chr21:34839360C>A	AF045606	CCDS13625.1	21q22.1	2008-07-29	2005-06-02	2005-06-02	ENSG00000142188	ENSG00000142188			1280	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 4"	C21orf4			Standard	NR_040016		Approved		uc002yrs.2	P56557	OTTHUMG00000065286	ENST00000542230.2:c.169G>T	21.37:g.34839360C>A	ENSP00000439768:p.Ala57Ser						p.A57S	NM_006134.6	NP_006125.2	P56557	TM50B_HUMAN			3	383	-			57					B2R4L4|D3DSF1|O60537|Q5PY47	Missense_Mutation	SNP	ENST00000542230.2	37	c.169G>T	CCDS13625.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.804956	0.50315	.	.	ENSG00000142188	ENST00000542230;ENST00000440644;ENST00000432504;ENST00000435619	T;T	0.30448	1.53;1.53	5.62	4.74	0.60224	.	0.177614	0.48286	D	0.000194	T	0.24661	0.0598	L	0.35249	1.045	0.58432	D	0.999999	B	0.27700	0.186	B	0.33121	0.158	T	0.03576	-1.1023	10	0.12103	T	0.63	-11.8283	13.255	0.60073	0.0:0.9224:0.0:0.0776	.	57	P56557	TM50B_HUMAN	S	57	ENSP00000439768:A57S;ENSP00000387622:A57S	ENSP00000371390:A57S	A	-	1	0	TMEM50B	33761230	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	4.298000	0.59067	1.379000	0.46325	0.549000	0.68633	GCC		0.368	TMEM50B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140080.5			3	101	1	0	0.014758	1	0.0151094	3	101					A	34839360	C	A	34839360	3	1	241	1	0	0	0	0	1	0	0	0	16173	710	25	4	327	4	TMEM50B	21	34839360	Missense_Mutation	SNP	C	TCGA-EL-A3T9-01A-21D-A22D-08		34839360	13290535	32	5217											
COL6A2	1292	broad.mit.edu	37	chr21	47532397	47532397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcgggacatcgccagcaCgccgcacgagctctaccgca	11	18	1	0			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr21:47532397C>T	ENST00000300527.4	+	3	724	c.620C>T	c.(619-621)aCg>aTg	p.T207M	COL6A2_ENST00000357838.4_Missense_Mutation_p.T207M|COL6A2_ENST00000460886.1_3'UTR|COL6A2_ENST00000409416.1_Missense_Mutation_p.T207M|COL6A2_ENST00000310645.5_Missense_Mutation_p.T207M|COL6A2_ENST00000397763.1_Missense_Mutation_p.T207M	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	207	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ATCGCCAGCACGCCGCACGAG	0.662																																						ENST00000300527.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(619-621)aCg>aTg		collagen, type VI, alpha 2							22	30	27					21																	47532397		2200	4291	6491	SO:0001583	missense	0				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47532397C>T	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.620C>T	21.37:g.47532397C>T	ENSP00000300527:p.Thr207Met					COL6A2_ENST00000460886.1_3'UTR|COL6A2_ENST00000310645.5_Missense_Mutation_p.T207M|COL6A2_ENST00000409416.1_Missense_Mutation_p.T207M|COL6A2_ENST00000357838.4_Missense_Mutation_p.T207M|COL6A2_ENST00000397763.1_Missense_Mutation_p.T207M	p.T207M	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	3	724	+	Breast(49;0.245)		207			Nonhelical region.|VWFA 1.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.620C>T	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	C	6.716	0.500827	0.12822	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7	4.21	1.91	0.25777	von Willebrand factor, type A (3);	0.659028	0.15915	N	0.238410	T	0.72692	0.3492	L	0.34521	1.04	0.09310	N	1	B;B;B	0.23937	0.045;0.094;0.075	B;B;B	0.21360	0.027;0.034;0.028	T	0.63296	-0.6669	10	0.45353	T	0.12	-2.8059	9.9243	0.41483	0.0:0.7108:0.0:0.2892	.	207;207;207	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	M	207	ENSP00000300527:T207M;ENSP00000350497:T207M;ENSP00000312529:T207M;ENSP00000387115:T207M;ENSP00000380870:T207M	ENSP00000300527:T207M	T	+	2	0	COL6A2	46356825	0.001000	0.12720	0.216000	0.23742	0.831000	0.47069	1.301000	0.33447	0.905000	0.36596	0.313000	0.20887	ACG		0.662	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			13	26	0	0	0	1	0	13	26					T	47532397	C	T	47532397	3	4	241	1	0	0	0	0	1	0	0	0	3700	536	19	1	626	1	COL6A2	21	47532397	Missense_Mutation	SNP	C	TCGA-EL-A3T9-01A-21D-A22D-08	12693037	47532397	597498	33	5218											
SEZ6L	23544	broad.mit.edu	37	chr22	26695087	26695087	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgctaagatgctgacatgcAtcaatgcctccaagccgcac	9	14	1	2			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr22:26695087A>C	ENST00000248933.6	+	5	1395	c.1300A>C	c.(1300-1302)Atc>Ctc	p.I434L	SEZ6L_ENST00000404234.3_Missense_Mutation_p.I434L|SEZ6L_ENST00000343706.4_Missense_Mutation_p.I434L|SEZ6L_ENST00000360929.3_Missense_Mutation_p.I434L|SEZ6L_ENST00000402979.1_Missense_Mutation_p.I207L|SEZ6L_ENST00000403121.1_Missense_Mutation_p.I207L|SEZ6L_ENST00000529632.2_Missense_Mutation_p.I434L			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	434	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GCTGACATGCATCAATGCCTC	0.597																																						ENST00000529632.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						c.(1300-1302)Atc>Ctc		seizure related 6 homolog (mouse)-like							32	28	29					22																	26695087		2203	4300	6503	SO:0001583	missense	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26695087A>C	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.1300A>C	22.37:g.26695087A>C	ENSP00000248933:p.Ile434Leu					SEZ6L_ENST00000248933.6_Missense_Mutation_p.I434L|SEZ6L_ENST00000402979.1_Missense_Mutation_p.I207L|SEZ6L_ENST00000403121.1_Missense_Mutation_p.I207L|SEZ6L_ENST00000343706.4_Missense_Mutation_p.I434L|SEZ6L_ENST00000404234.3_Missense_Mutation_p.I434L|SEZ6L_ENST00000360929.3_Missense_Mutation_p.I434L	p.I434L	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN			5	1496	+			434			Sushi 1.		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	c.1300A>C	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	A	4.132	0.022750	0.08006	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01;0.01;0.01	4.55	3.49	0.39957	Complement control module (2);Sushi/SCR/CCP (3);	0.114934	0.37623	N	0.002004	T	0.22704	0.0548	N	0.00446	-1.495	0.80722	D	1	B;B;B;B;B;B;B	0.15719	0.002;0.001;0.014;0.004;0.002;0.001;0.001	B;B;B;B;B;B;B	0.19666	0.007;0.01;0.026;0.009;0.015;0.01;0.01	T	0.34104	-0.9842	10	0.02654	T	1	.	9.7682	0.40574	0.6637:0.3362:0.0:0.0	.	434;434;207;434;434;434;434	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	L	434;434;434;434;434;207;207	ENSP00000384772:I434L;ENSP00000437037:I434L;ENSP00000354185:I434L;ENSP00000248933:I434L;ENSP00000342661:I434L;ENSP00000384838:I207L;ENSP00000384733:I207L	ENSP00000248933:I434L	I	+	1	0	SEZ6L	25025087	1.000000	0.71417	0.997000	0.53966	0.922000	0.55478	2.547000	0.45786	0.749000	0.32854	0.459000	0.35465	ATC		0.597	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			7	25	0	0	0	1	0	7	25					C	26695087	A	C	26695087	3	2	241	1	0	0	0	0	1	0	0	0	14143	217	8	5	1318	5	SEZ6L	22	26695087	Missense_Mutation	SNP	A	TCGA-EL-A3T9-01A-21D-A22D-08		26695087	24609479	34	5219											
ELFN2	114794	broad.mit.edu	37	chr22	37769205	37769205	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaccttcttgcgcagggcGtgaccggcggccatgtacac	14	13	1	1	rs148494870		TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr22:37769205G>A	ENST00000402918.2	-	3	3155	c.2370C>T	c.(2368-2370)caC>caT	p.H790H	RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.8_ENST00000609322.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	790					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TGCGCAGGGCGTGACCGGCGG	0.627													G|||	1	0.000199681	0	0	5008	,	,		14983	0		0.001	False		,,,				2504	0					ENST00000402918.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35						c.(2368-2370)caC>caT		extracellular leucine-rich repeat and fibronectin type III domain containing 2		G		0,4406		0,0,2203	97	89	91		2370	2.4	1.0	22	dbSNP_134	91	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	ELFN2	NM_052906.3		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		790/821	37769205	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	114794					cell surface|integral to membrane		g.chr22:37769205G>A	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing"	29396	protein-coding gene	gene with protein product			"leucine rich repeat containing 62", "extracellular leucine-rich repeat and fibronectin type III containing 2", "extracellular leucine-rich repeat and fibronectin type III domain containing 2", "protein phosphatase 1, regulatory subunit 29"	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.2370C>T	22.37:g.37769205G>A						ELFN2_ENST00000349653.3_Silent_p.H790H|RP1-63G5.5_ENST00000430883.1_RNA	p.H790H	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN			3	3155	-	Melanoma(58;0.0574)		790					Q96PY3	Silent	SNP	ENST00000402918.2	37	c.2370C>T	CCDS33642.1																																																																																				0.627	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		44	82	0	0	0	1	0	44	82					A	37769205	G	A	37769205	2	1	241	1	0	0	0	0	0	0	0	1	5058	1136	40	1		1	ELFN2	22	37769205	Silent	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08	11074118	37769205	13535361	35	5220											
EFNB1	1947	broad.mit.edu	37	chrX	68060182	68060182	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaaggtggcattgttcgcGgctgtcggtgccggttgcgt	16	10	0	0			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chrX:68060182G>A	ENST00000204961.4	+	5	1506	c.726G>A	c.(724-726)gcG>gcA	p.A242A		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	242					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|embryonic pattern specification (GO:0009880)|ephrin receptor signaling pathway (GO:0048013)|neural crest cell migration (GO:0001755)|positive regulation of T cell proliferation (GO:0042102)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ephrin receptor binding (GO:0046875)			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						CATTGTTCGCGGCTGTCGGTG	0.587																																						ENST00000204961.4																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						c.(724-726)gcG>gcA		ephrin-B1							56	57	56					X																	68060182		2203	4300	6503	SO:0001819	synonymous_variant	1947				cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding	g.chrX:68060182G>A	U09303	CCDS14391.1	Xq12	2011-03-09			ENSG00000090776	ENSG00000090776		"Ephrins"	3226	protein-coding gene	gene with protein product		300035	"craniofrontonasal syndrome (craniofrontonasal dysplasia)"	EPLG2, CFNS		7774950, 16526919	Standard	NM_004429		Approved	LERK2, Elk-L	uc004dxd.4	P98172	OTTHUMG00000021751	ENST00000204961.4:c.726G>A	X.37:g.68060182G>A							p.A242A	NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN			5	1506	+			242					D3DVU0	Silent	SNP	ENST00000204961.4	37	c.726G>A	CCDS14391.1																																																																																				0.587	EFNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057029.1	NM_004429		9	36	0	0	0	1	0	9	36					A	68060182	G	A	68060182	2	1	241	1	0	0	0	0	0	0	0	1	4955	1103	39	1		1	EFNB1	23	68060182	Silent	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08		68060182	87210378	36	5221											
PCSK9	255738	broad.mit.edu	37	chr1	55505553	55505555	+	In_Frame_Del	DEL	CTG	CTG	-													ggtcctggtggccgctgccaCtgctgctgctgctgctgctg					rs67610340		TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chr1:55505553_55505555delCTG	ENST00000302118.5	+	1	333_335	c.43_45delCTG	c.(43-45)ctgdel	p.L23del	PCSK9_ENST00000452118.2_In_Frame_Del_p.L23del|PCSK9_ENST00000543384.1_5'Flank	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	23			L -> LL (this polymoprhism seems to have a modifier effect on LDLR mutation and familial hypercholesterolemia). {ECO:0000269|PubMed:19319977, ECO:0000269|PubMed:22095935, ECO:0000269|Ref.4, ECO:0000269|Ref.5}.		apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.P14_L15insL(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						gccgctgccactgctgctgctgc	0.709																																					Pancreas(137;1454 1827 5886 22361 42375)	ENST00000302118.5																			2	Insertion - In frame(2)	p.P14_L15insL(2)	breast(1)|central_nervous_system(1)	NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						c.(43-45)del		proprotein convertase subtilisin/kexin type 9				61,2,537,84,3012		19,0,2,0,21,1,0,0,0,105,6,319,10,58,1307						0.2	0.0		dbSNP_130	10	61,21,797,190,6069		12,0,0,1,36,3,4,0,11,129,6,529,19,145,2674	no	codingComplex	PCSK9	NM_174936.3		31,0,2,1,57,4,4,0,11,234,12,848,29,203,3981	A1A1,A1A2,A1A3,A1A4,A1R,A2A2,A2A3,A2A4,A2R,A3A3,A3A4,A3R,A4A4,A4R,RR		14.9762,18.5065,16.1805				122,23,1334,274,9081				SO:0001651	inframe_deletion	255738				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	g.chr1:55505553_55505555delCTG	AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"hypercholesterolemia, autosomal dominant 3"	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.43_45delCTG	1.37:g.55505562_55505564delCTG	ENSP00000303208:p.Leu23del					PCSK9_ENST00000452118.2_In_Frame_Del_p.L23del	p.L23del	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN			1	333_335	+			23		L -> LL (this polymoprhism seems to have a modifier effect on LDLR mutation and familial hypercholesterolemia).			A8T640|C0JYY9|Q5PSM5|Q5SZQ2	In_Frame_Del	DEL	ENST00000302118.5	37	c.43_45delCTG	CCDS603.1																																																																																				0.709	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		2	4						2	4	---	---	---	---	-	55505555	CTG	-	55505553	7	5	242	1	0	1	0	1	0	0	0	0	11606	564	20	0	45	0	PCSK9	1	55505553	In_Frame_Del	DEL	CTG	TCGA-EL-A3TA-01A-12D-A22D-08		55505553	193745068	1	5222											
DCDC2	51473	broad.mit.edu	37	chr6	24357867	24357867	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaagctggacaccttcttctCatggatgacgacgcggcgcc	12	13	2	1			TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chr6:24357867C>T	ENST00000378454.3	-	1	413	c.112G>A	c.(112-114)Gag>Aag	p.E38K	KAAG1_ENST00000274766.1_5'UTR	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	38	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				ACCTTCTTCTCATGGATGACG	0.642																																						ENST00000378454.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(112-114)Gag>Aag		doublecortin domain containing 2							43	44	44					6																	24357867		2203	4300	6503	SO:0001583	missense	51473				cellular defense response|intracellular signal transduction|neuron migration			g.chr6:24357867C>T	AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.112G>A	6.37:g.24357867C>T	ENSP00000367715:p.Glu38Lys					KAAG1_ENST00000274766.1_5'UTR	p.E38K	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN			1	413	-		Ovarian(999;0.101)	38			Doublecortin 1.		Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Missense_Mutation	SNP	ENST00000378454.3	37	c.112G>A	CCDS4550.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.8|25.8	4.670544|4.670544	0.88348|0.88348	.|.	.|.	ENSG00000146038|ENSG00000146038	ENST00000378454;ENST00000451359|ENST00000436313	D|.	0.91295|.	-2.82|.	5.51|5.51	5.51|5.51	0.81932|0.81932	Doublecortin domain (5);|.	0.116516|.	0.56097|.	D|.	0.000028|.	T|T	0.50240|0.50240	0.1604|0.1604	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D|.	0.67145|.	0.996|.	D|.	0.65010|.	0.931|.	T|T	0.43410|0.43410	-0.9393|-0.9393	10|5	0.13853|.	T|.	0.58|.	-23.9694|-23.9694	19.4407|19.4407	0.94820|0.94820	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	38|.	Q9UHG0|.	DCDC2_HUMAN|.	K|I	38|5	ENSP00000367715:E38K|.	ENSP00000367715:E38K|.	E|M	-|-	1|3	0|0	DCDC2|DCDC2	24465846|24465846	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.987000|0.987000	0.75469|0.75469	4.708000|4.708000	0.61859|0.61859	2.586000|2.586000	0.87340|0.87340	0.650000|0.650000	0.86243|0.86243	GAG|ATG		0.642	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356		10	43	0	0	0	1	0	10	43					T	24357867	C	T	24357867	3	4	242	1	0	0	0	0	1	0	0	0	4285	835	29	2	1358	2	DCDC2	6	24357867	Missense_Mutation	SNP	C	TCGA-EL-A3TA-01A-12D-A22D-08		24357867	146757200	2	5223											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		10	36	0	0	0	1	0	10	36					T	140453136	A	T	140453136	3	4	242	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3TA-01A-12D-A22D-08		140453136	18685527	3	5224											
SSPO	23145	broad.mit.edu	37	chr7	149501110	149501110	+	RNA	DEL	G	G	-													ctccaaccctccggcagcctGggggggtgccccgtgtgaag					rs530953664		TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chr7:149501110delG	ENST00000378016.2	+	0	8246							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCGGCAGCCTGGGGGGGTGCC	0.667																																						ENST00000378016.2																			0													SCO-spondin				21,3497		2,17,1740						-0.7	0.0			8	99,7475		35,29,3723	no	frameshift	SSPO	NM_198455.2		37,46,5463	A1A1,A1R,RR		1.3071,0.5969,1.0819				120,10972						23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149501110delG	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149501110delG										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	8246	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	DEL	ENST00000378016.2	37																																																																																						0.667	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				2	4						2	4	---	---	---	---	-	149501110	G	-	149501110	6	5	242	0	1	1	0	1	0	0	0	0	15188	1357	47	0		0	SSPO	7	149501110	RNA	DEL	G	TCGA-EL-A3TA-01A-12D-A22D-08	9047974	149501110	9637553	4	5225											
GPR44	11251	broad.mit.edu	37	chr11	60620167	60620169	+	In_Frame_Del	DEL	GCG	GCG	-													gagcgggcggtggaggaggtGcggcggcggcggctgcttcc							TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chr11:60620167_60620169delGCG	ENST00000332539.4	-	2	1138_1140	c.1027_1029delCGC	c.(1027-1029)cgcdel	p.R343del	RP11-804A23.4_ENST00000538705.1_RNA	NM_004778.2	NP_004769.2	Q9Y5Y4	PD2R2_HUMAN	prostaglandin D2 receptor 2	343					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|calcium-mediated signaling (GO:0019722)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|prostaglandin D receptor activity (GO:0004956)|prostaglandin F receptor activity (GO:0004958)|prostaglandin J receptor activity (GO:0001785)									Indomethacin(DB00328)|Sulindac(DB00605)	TGGAGGAGGTGCGGCGGCGGCGG	0.749																																						ENST00000332539.4																			0											c.(1027-1029)del		prostaglandin D2 receptor 2				45,28,1843		12,1,20,7,13,905						-2.3	0.6		dbSNP_129	3	24,66,4762		5,0,14,11,44,2352	no	codingComplex	GPR44	NM_004778.2		17,1,34,18,57,3257	A1A1,A1A2,A1R,A2A2,A2R,RR		1.8549,3.81,2.4084				69,94,6605				SO:0001651	inframe_deletion	11251				immune response	integral to plasma membrane	N-formyl peptide receptor activity	g.chr11:60620167_60620169delGCG	AF118265	CCDS7994.1	11q12-q13.3	2012-08-08	2011-11-11	2011-11-11		ENSG00000183134		"CD molecules", "GPCR / Class A : Prostanoid receptors"	4502	protein-coding gene	gene with protein product	"chemoattractant receptor homologous molecule expressed on T helper type 2 cells"	604837	"G protein-coupled receptor 44"	GPR44		10036181	Standard	NM_004778		Approved	CRTH2, CD294, DP2	uc001nqc.2	Q9Y5Y4		ENST00000332539.4:c.1027_1029delCGC	11.37:g.60620176_60620178delGCG	ENSP00000332812:p.Arg343del						p.R343del	NM_004778.2	NP_004769.2	Q9Y5Y4	GPR44_HUMAN			2	1138_1140	-			343					O94765|Q4QRI6	In_Frame_Del	DEL	ENST00000332539.4	37	c.1027_1029delCGC	CCDS7994.1																																																																																				0.749	PTGDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396328.1	NM_004778		2	4						2	4	---	---	---	---	-	60620169	GCG	-	60620167	7	5	242	1	0	1	0	1	0	0	0	0	6695	1306	46	0	162	0	GPR44	11	60620167	In_Frame_Del	DEL	GCG	TCGA-EL-A3TA-01A-12D-A22D-08		60620167	74386349	5	5226											
CEP290	80184	broad.mit.edu	37	chr12	88486541	88486541	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcatcacttactgccttgctCacactatcagctaattcatc	4	14	4	0	rs546939043		TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chr12:88486541C>T	ENST00000552810.1	-	29	3721	c.3378G>A	c.(3376-3378)gtG>gtA	p.V1126V	CEP290_ENST00000397838.3_Silent_p.V186V|CEP290_ENST00000309041.7_Silent_p.V1128V|CEP290_ENST00000547691.2_Silent_p.V186V	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1126					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CTGCCTTGCTCACACTATCAG	0.358													C|||	1	0.000199681	0	0	5008	,	,		18985	0.001		0	False		,,,				2504	0					ENST00000552810.1																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						c.(3376-3378)gtG>gtA		centrosomal protein 290kDa							245	229	234					12																	88486541		1954	4154	6108	SO:0001819	synonymous_variant	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88486541C>T	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"Joubert syndrome 5", "nephrocystin-6", "cancer/testis antigen 87", "POC3 centriolar protein homolog (Chlamydomonas)", "Meckel syndrome, type 4"	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.3378G>A	12.37:g.88486541C>T						CEP290_ENST00000547691.2_Silent_p.V186V|CEP290_ENST00000309041.7_Silent_p.V1128V|CEP290_ENST00000397838.3_Silent_p.V186V	p.V1126V	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN			29	3721	-			1126					Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Silent	SNP	ENST00000552810.1	37	c.3378G>A	CCDS55858.1																																																																																				0.358	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		3	94	0	0	0	1	0	3	94					T	88486541	C	T	88486541	2	4	242	1	0	0	0	0	0	0	0	1	3253	813	29	2		2	CEP290	12	88486541	Silent	SNP	C	TCGA-EL-A3TA-01A-12D-A22D-08		88486541	45365354	6	5227											
FLRT2	23768	broad.mit.edu	37	chr14	86089600	86089600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaagtggaaatacaaccGgggccggcggaaagatgatt	14	8	0	3			TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chr14:86089600G>A	ENST00000330753.4	+	2	2509	c.1742G>A	c.(1741-1743)cGg>cAg	p.R581Q	FLRT2_ENST00000554746.1_Missense_Mutation_p.R581Q	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	581					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AAATACAACCGGGGCCGGCGG	0.517																																						ENST00000330753.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(1741-1743)cGg>cAg		fibronectin leucine rich transmembrane protein 2							80	87	85					14																	86089600		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86089600G>A	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"Fibronectin type III domain containing"	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1742G>A	14.37:g.86089600G>A	ENSP00000332879:p.Arg581Gln					FLRT2_ENST00000554746.1_Missense_Mutation_p.R581Q	p.R581Q	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	2509	+			581					A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.1742G>A	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.547953	0.86022	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.60548	0.18;0.18	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.69655	0.3135	L	0.53249	1.67	0.58432	D	0.999999	D	0.71674	0.998	P	0.55508	0.777	T	0.69412	-0.5152	10	0.72032	D	0.01	-15.3263	20.8794	0.99867	0.0:0.0:1.0:0.0	.	581	O43155	FLRT2_HUMAN	Q	581;581;234	ENSP00000332879:R581Q;ENSP00000451050:R581Q	ENSP00000332879:R581Q	R	+	2	0	FLRT2	85159353	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.809000	0.75211	2.941000	0.99782	0.655000	0.94253	CGG		0.517	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			4	118	0	0	0	1	0	4	118					A	86089600	G	A	86089600	3	1	242	1	0	0	0	0	1	0	0	0	5939	1116	39	1	1744	1	FLRT2	14	86089600	Missense_Mutation	SNP	G	TCGA-EL-A3TA-01A-12D-A22D-08		86089600	21259940	7	5228											
NIPA1	123606	broad.mit.edu	37	chr15	23086365	23086367	+	In_Frame_Del	DEL	GCC	GCC	-													ggctacgcgccccctccccgGccgccgccgccgccgccgcc					rs531550505	byFrequency	TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chr15:23086365_23086367delGCC	ENST00000337435.4	-	1	69_71	c.45_47delGGC	c.(43-48)gcggcc>gcc	p.15_16AA>A	NIPA1_ENST00000437912.2_Intron|NIPA1_ENST00000538684.1_5'Flank|NIPA1_ENST00000561183.1_Intron	NM_001142275.1|NM_144599.4	NP_001135747.1|NP_653200.2	Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	15					cell death (GO:0008219)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		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;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		CCCCTCCCCGgccgccgccgccg	0.818														310	0.061901	0.0666	0.0519	5008	,	,		2562	0.0139		0.1014	False		,,,				2504	0.0716					ENST00000337435.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15						c.(43-48)gcc>gc		non imprinted in Prader-Willi/Angelman syndrome 1																																				SO:0001651	inframe_deletion	123606				cell death	early endosome|integral to membrane|plasma membrane		g.chr15:23086365_23086367delGCC	BK001020	CCDS73691.1, CCDS73692.1	15q11.2	2006-10-06			ENSG00000170113	ENSG00000170113			17043	protein-coding gene	gene with protein product		608145	"spastic paraplegia 6 (autosomal dominant)"	SPG6		14508710	Standard	NM_144599		Approved	MGC35570	uc001yvc.3	Q7RTP0	OTTHUMG00000129099	ENST00000337435.4:c.45_47delGGC	15.37:g.23086374_23086376delGCC	ENSP00000337452:p.Ala16del					NIPA1_ENST00000561183.1_Intron|NIPA1_ENST00000437912.2_Intron	p.AA15del	NM_001142275.1|NM_144599.4	NP_001135747.1|NP_653200.2	Q7RTP0	NIPA1_HUMAN		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)	1	69_71	-		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)	15					B2RA76|Q5HYA9|Q7KZB0|Q86XW4	In_Frame_Del	DEL	ENST00000337435.4	37	c.45_47delGGC	CCDS10011.1																																																																																				0.818	NIPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251135.2	NM_144599		3	3						3	3	---	---	---	---	-	23086367	GCC	-	23086365	7	5	242	1	0	1	0	1	0	0	0	0	10422	1203	42	0	962	0	NIPA1	15	23086365	In_Frame_Del	DEL	GCC	TCGA-EL-A3TA-01A-12D-A22D-08		23086365	79445027	8	5229											
PITPNM3	83394	broad.mit.edu	37	chr17	6367996	6367996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctctccagtcagagccacCatgtcgaggggcccgtacat	10	14	2	1			TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chr17:6367996C>T	ENST00000262483.8	-	15	2073	c.1986G>A	c.(1984-1986)atG>atA	p.M662I	PITPNM3_ENST00000576664.1_5'UTR|PITPNM3_ENST00000421306.3_Missense_Mutation_p.M626I	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	662					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		TCAGAGCCACCATGTCGAGGG	0.622																																						ENST00000262483.8																			0											c.(1984-1986)atG>atA									55	51	52					17																	6367996		2203	4300	6503	SO:0001583	missense	0							g.chr17:6367996C>T	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"GPCR / Class A : Chemokine receptors : Atypical"	21043	protein-coding gene	gene with protein product	"atypical chemokine receptor 6"	608921	"cone rod dystrophy 5"	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.1986G>A	17.37:g.6367996C>T	ENSP00000262483:p.Met662Ile					ACKR6_ENST00000421306.3_Missense_Mutation_p.M626I|ACKR6_ENST00000576664.1_5'UTR	p.M662I	NM_031220.3	NP_112497.2					15	2073	-								A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	37	c.1986G>A	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.602111	0.87055	.	.	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.47177	0.85;0.85	4.78	4.78	0.61160	.	0.083044	0.85682	D	0.000000	T	0.58352	0.2116	M	0.87269	2.87	0.51482	D	0.99992	P;P	0.39903	0.694;0.501	B;B	0.41466	0.358;0.073	T	0.66744	-0.5846	10	0.51188	T	0.08	.	15.6696	0.77262	0.0:1.0:0.0:0.0	.	626;662	F8WEW5;Q9BZ71	.;PITM3_HUMAN	I	662;626	ENSP00000262483:M662I;ENSP00000407882:M626I	ENSP00000262483:M662I	M	-	3	0	PITPNM3	6308720	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.680000	0.84062	2.358000	0.79984	0.561000	0.74099	ATG		0.622	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		8	28	0	0	0	1	0	8	28					T	6367996	C	T	6367996	3	4	242	1	0	0	0	0	1	0	0	0	11952	594	21	2	962	2	PITPNM3	17	6367996	Missense_Mutation	SNP	C	TCGA-EL-A3TA-01A-12D-A22D-08		6367996	74827214	9	5230											
ZSCAN18	65982	broad.mit.edu	37	chr19	58596319	58596319	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcaggtgcgagagccacgcGaaggcctccccgcactcgcc	12	17	1	1			TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chr19:58596319G>A	ENST00000240727.6	-	7	1665	c.1266C>T	c.(1264-1266)ttC>ttT	p.F422F	ZSCAN18_ENST00000601144.1_Silent_p.F422F|ZSCAN18_ENST00000600404.1_Silent_p.F478F|ZSCAN18_ENST00000421612.2_Silent_p.F286F	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	422					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGAGCCACGCGAAGGCCTCCC	0.716																																						ENST00000240727.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19						c.(1264-1266)ttC>ttT		zinc finger and SCAN domain containing 18							21	19	20					19																	58596319		2196	4290	6486	SO:0001819	synonymous_variant	65982				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58596319G>A	AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"-", "Zinc fingers, C2H2-type"	21037	protein-coding gene	gene with protein product			"zinc finger protein 447"	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.1266C>T	19.37:g.58596319G>A						ZSCAN18_ENST00000601144.1_Silent_p.F422F|ZSCAN18_ENST00000421612.2_Silent_p.F286F|ZSCAN18_ENST00000600404.1_Silent_p.F478F	p.F422F	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	7	1665	-		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)	422					B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Silent	SNP	ENST00000240727.6	37	c.1266C>T	CCDS12971.1																																																																																				0.716	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926		3	8	0	0	0	1	0	3	8					A	58596319	G	A	58596319	2	1	242	1	0	0	0	0	0	0	0	1	18227	1049	37	1		1	ZSCAN18	19	58596319	Silent	SNP	G	TCGA-EL-A3TA-01A-12D-A22D-08		58596319	532664	10	5231											
PKNOX1	5316	broad.mit.edu	37	chr21	44437073	44437073	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagggaattgtggtgccggCgtccgcgctgcagcagggaa	17	10	1	0			TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chr21:44437073C>A	ENST00000291547.5	+	6	789	c.578C>A	c.(577-579)gCg>gAg	p.A193E	PKNOX1_ENST00000432907.2_Missense_Mutation_p.A76E	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	193					angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						GTGGTGCCGGCGTCCGCGCTG	0.512																																						ENST00000291547.5																			0				cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						c.(577-579)gCg>gAg		PBX/knotted 1 homeobox 1							53	49	50					21																	44437073		2203	4300	6503	SO:0001583	missense	5316						sequence-specific DNA binding	g.chr21:44437073C>A		CCDS13692.1, CCDS68211.1	21q22.3	2011-06-20			ENSG00000160199	ENSG00000160199		"Homeoboxes / TALE class"	9022	protein-coding gene	gene with protein product		602100				9479508	Standard	NM_001286258		Approved	PREP1	uc002zcq.1	P55347	OTTHUMG00000086833	ENST00000291547.5:c.578C>A	21.37:g.44437073C>A	ENSP00000291547:p.Ala193Glu					PKNOX1_ENST00000432907.2_Missense_Mutation_p.A76E	p.A193E	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN			6	789	+			193					O00528|Q8IWT7	Missense_Mutation	SNP	ENST00000291547.5	37	c.578C>A	CCDS13692.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.435406	0.62955	.	.	ENSG00000160199	ENST00000291547;ENST00000432907	D;D	0.86694	-1.89;-2.16	5.39	5.39	0.77823	.	0.052376	0.85682	D	0.000000	D	0.92110	0.7499	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;P;D	0.87578	0.998;0.861;0.998	D	0.90434	0.4426	10	0.30854	T	0.27	-24.7945	17.3298	0.87259	0.0:1.0:0.0:0.0	.	193;193;193	Q5DNB2;P55347;P55347-2	.;PKNX1_HUMAN;.	E	193;76	ENSP00000291547:A193E;ENSP00000402243:A76E	ENSP00000291547:A193E	A	+	2	0	PKNOX1	43310142	1.000000	0.71417	0.087000	0.20705	0.015000	0.08874	6.768000	0.74980	2.506000	0.84524	0.655000	0.94253	GCG		0.512	PKNOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195520.3			3	53	1	0	0.115264	1	0.122468	3	53					A	44437073	C	A	44437073	3	1	242	1	0	0	0	0	1	0	0	0	11982	768	27	4	596	4	PKNOX1	21	44437073	Missense_Mutation	SNP	C	TCGA-EL-A3TA-01A-12D-A22D-08		44437073	3692822	11	5232											
P2RY10	27334	broad.mit.edu	37	chrX	78216608	78216608	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aatgcagttgcgttggtcggGatgattacagttgctgagct	14	6	0	2			TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chrX:78216608G>T	ENST00000171757.2	+	4	871	c.591G>T	c.(589-591)ggG>ggT	p.G197G	P2RY10_ENST00000544091.1_Silent_p.G197G	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	197						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CGTTGGTCGGGATGATTACAG	0.453																																						ENST00000171757.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						c.(589-591)ggG>ggT		purinergic receptor P2Y, G-protein coupled, 10							168	124	139					X																	78216608		2203	4300	6503	SO:0001819	synonymous_variant	0					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78216608G>T	AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.591G>T	X.37:g.78216608G>T						P2RY10_ENST00000544091.1_Silent_p.G197G	p.G197G	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN			4	871	+			197					D3DTE5|Q4VBN7|Q86V16	Silent	SNP	ENST00000171757.2	37	c.591G>T	CCDS14442.1																																																																																				0.453	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1			3	43	1	0	1	1	1	3	43					T	78216608	G	T	78216608	2	4	242	1	0	0	0	0	0	0	0	1	11347	1161	41	4		4	P2RY10	23	78216608	Silent	SNP	G	TCGA-EL-A3TA-01A-12D-A22D-08		78216608	77053952	12	5233											
AMMECR1	9949	broad.mit.edu	37	chrX	109561058	109561060	+	In_Frame_Del	DEL	CCG	CCG	-													gtggcgacagggcgatccccCcgccgccgccgccgcagccc							TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chrX:109561058_109561060delCCG	ENST00000262844.5	-	1	407_409	c.240_242delCGG	c.(238-243)ggcggg>ggg	p.80_81GG>G	AMMECR1_ENST00000496695.1_5'Flank|AMMECR1_ENST00000372057.1_5'UTR|AMMECR1_ENST00000372059.2_In_Frame_Del_p.80_81GG>G	NM_015365.2	NP_056180.1	Q9Y4X0	AMMR1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	80	Gly/Ser-rich.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						GGCGATCCCCCCGCCGCCGCCGC	0.734																																						ENST00000262844.5																			0				large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						c.(238-243)ggg>gg		Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1			,,	57,2761		4,39,10,1217,288					,,	4.4	1.0			10	122,4848		9,60,44,1818,1152	no	coding,utr-5,coding	AMMECR1	NM_015365.2,NM_001171689.1,NM_001025580.1	,,	13,99,54,3035,1440	A1A1,A1R,A1,RR,R		2.4547,2.0227,2.2984	,,	,,		179,7609				SO:0001651	inframe_deletion	9949							g.chrX:109561058_109561060delCCG	AJ007014	CCDS14551.1, CCDS35368.1, CCDS55476.1	Xq22.3	2014-06-17	2008-09-12		ENSG00000101935	ENSG00000101935			467	protein-coding gene	gene with protein product		300195				10049589, 9480748	Standard	NM_001171689		Approved		uc004eoo.3	Q9Y4X0	OTTHUMG00000022197	ENST00000262844.5:c.240_242delCGG	X.37:g.109561067_109561069delCCG	ENSP00000262844:p.Gly82del					AMMECR1_ENST00000372057.1_5'UTR|AMMECR1_ENST00000372059.2_In_Frame_Del_p.GG80del	p.GG80del	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN			1	407_409	-			80			Gly/Ser-rich.		Q5JYV9|Q6P9D8|Q8WX22|Q9UIQ8	In_Frame_Del	DEL	ENST00000262844.5	37	c.240_242delCGG	CCDS14551.1																																																																																				0.734	AMMECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057907.1			2	4						2	4	---	---	---	---	-	109561060	CCG	-	109561058	7	5	242	1	0	1	0	1	0	0	0	0	578	623	22	0	783	0	AMMECR1	23	109561058	In_Frame_Del	DEL	CCG	TCGA-EL-A3TA-01A-12D-A22D-08	31344450	109561058	45709502	13	5234											
PAK3	5063	broad.mit.edu	37	chrX	110385387	110385387	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcagactttgagcatacgaTtcatgtggggtttgatgcag	12	6	2	3			TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chrX:110385387T>G	ENST00000372010.1	+	6	681	c.239T>G	c.(238-240)aTt>aGt	p.I80S	PAK3_ENST00000425146.1_Missense_Mutation_p.I80S|PAK3_ENST00000372007.5_Missense_Mutation_p.I80S|PAK3_ENST00000519681.1_Missense_Mutation_p.I80S|PAK3_ENST00000262836.4_Missense_Mutation_p.I80S|PAK3_ENST00000518291.1_Missense_Mutation_p.I80S|PAK3_ENST00000360648.4_Missense_Mutation_p.I80S|PAK3_ENST00000417227.1_Missense_Mutation_p.I80S|PAK3_ENST00000446737.1_Missense_Mutation_p.I80S			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	80	Autoregulatory region. {ECO:0000250}.|CRIB. {ECO:0000255|PROSITE- ProRule:PRU00057}.|GTPase-binding. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GAGCATACGATTCATGTGGGG	0.398										TSP Lung(19;0.15)																												ENST00000519681.1																			0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(238-240)aTt>aGt		p21 protein (Cdc42/Rac)-activated kinase 3							198	195	196					X																	110385387		2203	4300	6503	SO:0001583	missense	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110385387T>G	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"mental retardation, X-linked 47", "p21 (CDKN1A)-activated kinase 3"	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.239T>G	X.37:g.110385387T>G	ENSP00000361080:p.Ile80Ser	TSP Lung(19;0.15)				PAK3_ENST00000446737.1_Missense_Mutation_p.I80S|PAK3_ENST00000425146.1_Missense_Mutation_p.I80S|PAK3_ENST00000372007.4_Missense_Mutation_p.I80S|PAK3_ENST00000372010.1_Missense_Mutation_p.I80S|PAK3_ENST00000417227.1_Missense_Mutation_p.I80S|PAK3_ENST00000262836.4_Missense_Mutation_p.I80S|PAK3_ENST00000360648.4_Missense_Mutation_p.I80S|PAK3_ENST00000518291.1_Missense_Mutation_p.I80S	p.I80S			O75914	PAK3_HUMAN			6	681	+			80			Autoregulatory region (By similarity).|CRIB.|GTPase-binding (By similarity).		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Missense_Mutation	SNP	ENST00000372010.1	37	c.239T>G	CCDS48153.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.170719	0.78452	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000429193;ENST00000360648;ENST00000417227;ENST00000262836	D;D;D;D;D;D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9	5.96	4.78	0.61160	PAK-box/P21-Rho-binding (3);	0.053444	0.64402	D	0.000001	D	0.85695	0.5756	N	0.26042	0.785	0.80722	D	1	D;D;P;P	0.57899	0.961;0.981;0.915;0.896	P;P;P;P	0.62885	0.804;0.908;0.836;0.747	D	0.85902	0.1435	10	0.66056	D	0.02	.	11.6631	0.51358	0.1348:0.0:0.0:0.8652	.	80;80;80;80	O75914-4;O75914-3;O75914;O75914-2	.;.;PAK3_HUMAN;.	S	80	ENSP00000410853:I80S;ENSP00000401982:I80S;ENSP00000361080:I80S;ENSP00000429113:I80S;ENSP00000361077:I80S;ENSP00000428921:I80S;ENSP00000405642:I80S;ENSP00000353864:I80S;ENSP00000389172:I80S;ENSP00000262836:I80S	ENSP00000262836:I80S	I	+	2	0	PAK3	110272043	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	0.838000	0.34948	0.486000	0.48141	ATT		0.398	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		3	64	0	0	0	1	0	3	64					G	110385387	T	G	110385387	3	3	242	1	0	0	0	0	1	0	0	0	11402	1493	52	5	245	5	PAK3	23	110385387	Missense_Mutation	SNP	T	TCGA-EL-A3TA-01A-12D-A22D-08	824329	110385387	44885173	14	5235											
TNFRSF9	3604	broad.mit.edu	37	chr1	7980912	7980914	+	In_Frame_Del	DEL	CTT	CTT	-													atttcacagttcacatcctcCttcttcttcttctggaaatc							TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr1:7980912_7980914delCTT	ENST00000377507.3	-	8	915_917	c.749_751delAAG	c.(748-753)gaagga>gga	p.E250del		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	250	Interaction with LRR-1.		E -> G (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.E250G(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		TCACATCCTCCTTCTTCTTCTTC	0.379																																						ENST00000377507.3																			1	Substitution - Missense(1)	p.E250G(1)	large_intestine(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(748-753)gga>g		tumor necrosis factor receptor superfamily, member 9				58,4208		29,0,2104						6.2	1.0			142	103,8151		49,5,4073	no	coding	TNFRSF9	NM_001561.5		78,5,6177	A1A1,A1R,RR		1.2479,1.3596,1.2859				161,12359				SO:0001651	inframe_deletion	3604				induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	g.chr1:7980912_7980914delCTT	L12964	CCDS92.1	1p36	2008-02-05			ENSG00000049249	ENSG00000049249		"Tumor necrosis factor receptor superfamily", "CD molecules"	11924	protein-coding gene	gene with protein product		602250		ILA		8262389, 8639902	Standard	NM_001561		Approved	CD137, 4-1BB	uc001aot.3	Q07011	OTTHUMG00000001223	ENST00000377507.3:c.749_751delAAG	1.37:g.7980921_7980923delCTT	ENSP00000366729:p.Glu250del						p.EG250del	NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)	8	915_917	-	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	250		E -> G (in a colorectal cancer sample; somatic mutation).	Interaction with LRR-1.			In_Frame_Del	DEL	ENST00000377507.3	37	c.749_751delAAG	CCDS92.1																																																																																				0.379	TNFRSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003622.1			7	132						7	132	---	---	---	---	-	7980914	CTT	-	7980912	7	5	243	1	0	1	0	1	0	0	0	0	16297	690	24	0	20	0	TNFRSF9	1	7980912	In_Frame_Del	DEL	CTT	TCGA-EL-A3TB-01A-11D-A22D-08		7980912	241269709	1	5236											
VCAM1	7412	broad.mit.edu	37	chr1	101198093	101198093	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgaaaatcctgtggagcaggCagctccctaacggggagcta	13	11	0	0			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr1:101198093C>A	ENST00000294728.2	+	7	1746	c.1645C>A	c.(1645-1647)Cag>Aag	p.Q549K	VCAM1_ENST00000347652.2_Missense_Mutation_p.Q457K|VCAM1_ENST00000370119.4_Missense_Mutation_p.Q487K|VCAM1_ENST00000370115.1_Missense_Mutation_p.Q350K	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	549	Ig-like C2-type 6.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)	p.Q549K(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GTGGAGCAGGCAGCTCCCTAA	0.483																																						ENST00000294728.2																			1	Substitution - Missense(1)	p.Q549K(1)	lung(1)	central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1645-1647)Cag>Aag		vascular cell adhesion molecule 1	Carvedilol(DB01136)						46	49	48					1																	101198093		2203	4300	6503	SO:0001583	missense	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101198093C>A	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.1645C>A	1.37:g.101198093C>A	ENSP00000294728:p.Gln549Lys					VCAM1_ENST00000370119.4_Missense_Mutation_p.Q487K|VCAM1_ENST00000347652.2_Missense_Mutation_p.Q457K|VCAM1_ENST00000370115.1_Missense_Mutation_p.Q350K	p.Q549K	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	7	1746	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	549			Ig-like C2-type 6.		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	c.1645C>A	CCDS773.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.172710	0.00315	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728;ENST00000370115	T;T;T;T	0.12255	2.7;2.7;2.7;2.7	5.57	-0.954	0.10359	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.051540	0.07249	N	0.865631	T	0.01592	0.0051	N	0.11064	0.09	0.09310	N	1	B;B;B	0.10296	0.0;0.003;0.0	B;B;B	0.14023	0.008;0.01;0.009	T	0.45071	-0.9286	10	0.06099	T	0.92	0.4401	10.342	0.43884	0.5996:0.3314:0.0:0.0691	.	487;457;549	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	K	487;457;549;350	ENSP00000359137:Q487K;ENSP00000304611:Q457K;ENSP00000294728:Q549K;ENSP00000359133:Q350K	ENSP00000294728:Q549K	Q	+	1	0	VCAM1	100970681	0.000000	0.05858	0.337000	0.25536	0.093000	0.18481	-0.120000	0.10660	0.060000	0.16281	-0.169000	0.13324	CAG		0.483	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		17	21	1	0	3.52763e-06	1	4.13237e-06	17	21					A	101198093	C	A	101198093	3	1	243	1	0	0	0	0	1	0	0	0	17134	711	25	4	1671	4	VCAM1	1	101198093	Missense_Mutation	SNP	C	TCGA-EL-A3TB-01A-11D-A22D-08	93217181	101198093	148052528	2	5237											
RBM15	64783	broad.mit.edu	37	chr1	110882663	110882663	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	catctgtcgggttctggcagCggggatgagcgggtagcctt	17	9	2	1			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr1:110882663C>G	ENST00000369784.3	+	1	1536	c.636C>G	c.(634-636)agC>agG	p.S212R	RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000487146.2_Missense_Mutation_p.S212R|RBM15_ENST00000602849.1_Missense_Mutation_p.S212R	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	212	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTTCTGGCAGCGGGGATGAGC	0.602			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000369784.3				Dom	yes		1	1p13	64783	T	RNA binding motif protein 15			L	MKL1		acute megakaryocytic leukemia		0				ovary(3)	3						c.(634-636)agC>agG		RNA binding motif protein 15							62	64	63					1																	110882663		2203	4300	6503	SO:0001583	missense	64783				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:110882663C>G	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"RNA binding motif (RRM) containing"	14959	protein-coding gene	gene with protein product	"one twenty-two"	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.636C>G	1.37:g.110882663C>G	ENSP00000358799:p.Ser212Arg		OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1430	RBM15_ENST00000487146.2_Missense_Mutation_p.S212R|RBM15_ENST00000602849.1_Missense_Mutation_p.S212R	p.S212R	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	1536	+		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)	212			RRM 1.		A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	ENST00000369784.3	37	c.636C>G	CCDS822.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.403869	0.42613	.	.	ENSG00000162775	ENST00000369784	T	0.17370	2.28	4.35	4.35	0.52113	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.320649	0.23517	N	0.047333	T	0.05868	0.0153	N	0.08118	0	0.37411	D	0.913259	P;P	0.48503	0.736;0.911	P;P	0.46172	0.453;0.506	T	0.12016	-1.0564	10	0.56958	D	0.05	-10.1302	10.3684	0.44038	0.0:0.9063:0.0:0.0937	.	212;212	Q96T37-3;Q96T37	.;RBM15_HUMAN	R	212	ENSP00000358799:S212R	ENSP00000358799:S212R	S	+	3	2	RBM15	110684186	0.885000	0.30320	1.000000	0.80357	0.999000	0.98932	-0.102000	0.10956	2.706000	0.92434	0.655000	0.94253	AGC		0.602	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		37	38	0	0	0	1	0	37	38					G	110882663	C	G	110882663	3	3	243	1	0	0	0	0	1	0	0	0	13116	767	27	4	638	4	RBM15	1	110882663	Missense_Mutation	SNP	C	TCGA-EL-A3TB-01A-11D-A22D-08	9684570	110882663	138367958	3	5238											
GPN1	11321	broad.mit.edu	37	chr2	27861816	27861816	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttgaggctttccaagatgCcttgaatcaagagactacat	8	8	1	4			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr2:27861816C>A	ENST00000610189.1	+	9	642	c.635C>A	c.(634-636)gCc>gAc	p.A212D	GPN1_ENST00000458167.2_Missense_Mutation_p.A117D|GPN1_ENST00000407583.3_Missense_Mutation_p.A200D|GPN1_ENST00000461249.1_3'UTR|GPN1_ENST00000515877.1_Missense_Mutation_p.A133D|GPN1_ENST00000264718.3_Missense_Mutation_p.A226D|GPN1_ENST00000503738.1_Missense_Mutation_p.A117D|GPN1_ENST00000424214.1_Missense_Mutation_p.A133D	NM_007266.3	NP_009197.2			GPN-loop GTPase 1											endometrium(1)|large_intestine(1)|lung(12)	14						TTCCAAGATGCCTTGAATCAA	0.443																																						ENST00000264718.3																			0				endometrium(1)|large_intestine(1)|lung(12)	14						c.(676-678)gCc>gAc		GPN-loop GTPase 1							116	103	108					2																	27861816		2203	4300	6503	SO:0001583	missense	11321					cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding	g.chr2:27861816C>A	AB044661	CCDS1760.2, CCDS46248.1, CCDS46249.1, CCDS46250.1	2p23.3	2011-11-04	2008-04-30	2008-04-30	ENSG00000198522	ENSG00000198522		"GPN-loop GTPases"	17030	protein-coding gene	gene with protein product	"RNA polymerase II associated protein 4"	611479	"XPA binding protein 1", "XPA binding protein 1, GTPase"	XAB1		11058119, 11124703	Standard	NM_007266		Approved	NTPBP, MBDIN, ATPBD1A, RPAP4	uc010ymc.2	Q9HCN4	OTTHUMG00000097784	ENST00000610189.1:c.635C>A	2.37:g.27861816C>A	ENSP00000476446:p.Ala212Asp					GPN1_ENST00000461249.1_3'UTR|GPN1_ENST00000458167.2_Missense_Mutation_p.A117D|GPN1_ENST00000407583.3_Missense_Mutation_p.A200D|GPN1_ENST00000515877.1_Missense_Mutation_p.A133D|GPN1_ENST00000503738.1_Missense_Mutation_p.A117D|GPN1_ENST00000424214.1_Missense_Mutation_p.A133D	p.A226D	NM_007266.3	NP_009197.2	Q9HCN4	GPN1_HUMAN			9	698	+			212						Missense_Mutation	SNP	ENST00000610189.1	37	c.677C>A		.	.	.	.	.	.	.	.	.	.	C	35	5.502546	0.96371	.	.	ENSG00000198522	ENST00000515877;ENST00000503738;ENST00000458167;ENST00000424214;ENST00000407583;ENST00000264718	T;T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96;1.96	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.48259	0.1490	M	0.74647	2.275	0.80722	D	1	P;D;P;D	0.89917	0.707;1.0;0.943;0.999	P;D;P;D	0.79784	0.838;0.993;0.733;0.993	T	0.40997	-0.9533	10	0.59425	D	0.04	-2.0114	16.8827	0.86067	0.0:1.0:0.0:0.0	.	212;226;117;200	Q9HCN4;B4DQM4;B4DXU4;B5MBZ5	GPN1_HUMAN;.;.;.	D	133;117;117;133;200;226	ENSP00000424678:A133D;ENSP00000427269:A117D;ENSP00000412170:A117D;ENSP00000398115:A133D;ENSP00000384255:A200D;ENSP00000264718:A226D	ENSP00000264718:A226D	A	+	2	0	GPN1	27715320	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.175000	0.77632	2.773000	0.95371	0.655000	0.94253	GCC		0.443	GPN1-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473126.1	NM_007266		5	67	1	0	0.000602214	1	0.000649758	5	67					A	27861816	C	A	27861816	3	1	243	1	0	0	0	0	1	0	0	0	6617	739	26	4	794	4	GPN1	2	27861816	Missense_Mutation	SNP	C	TCGA-EL-A3TB-01A-11D-A22D-08		27861816	215337557	4	5239											
ALMS1	7840	broad.mit.edu	37	chr2	73613087	73613089	+	In_Frame_Del	DEL	GCG	GCG	-													aggaagaggaggaggctgcaGcggcggcggcggcgaacgtg					rs13009609		TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr2:73613087_73613089delGCG	ENST00000264448.6	+	1	202_204	c.91_93delGCG	c.(91-93)gcgdel	p.A35del	ALMS1_ENST00000377715.1_In_Frame_Del_p.A35del|ALMS1_ENST00000409009.1_In_Frame_Del_p.A35del	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	35	Glu-rich.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ggaggCTGCAGCGGCGGCGGCGG	0.675																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(91-93)del		Alstrom syndrome 1																																				SO:0001651	inframe_deletion	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73613087_73613089delGCG	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.91_93delGCG	2.37:g.73613096_73613098delGCG	ENSP00000264448:p.Ala35del					ALMS1_ENST00000409009.1_In_Frame_Del_p.A35del|ALMS1_ENST00000377715.1_In_Frame_Del_p.A35del	p.A35del	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			1	202_204	+			35			Glu-rich.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	In_Frame_Del	DEL	ENST00000264448.6	37	c.91_93delGCG	CCDS42697.1																																																																																				0.675	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		2	4						2	4	---	---	---	---	-	73613089	GCG	-	73613087	7	5	243	1	0	1	0	1	0	0	0	0	535	971	34	0	93	0	ALMS1	2	73613087	In_Frame_Del	DEL	GCG	TCGA-EL-A3TB-01A-11D-A22D-08	45751271	73613087	169586286	5	5240											
TTN	7273	broad.mit.edu	37	chr2	179399157	179399157	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagagcctccgatgctgtcAtgcgagatttcctctctttc	10	12	2	2			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr2:179399157A>G	ENST00000591111.1	-	308	97486	c.97262T>C	c.(97261-97263)aTg>aCg	p.M32421T	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M31494T|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M25189T|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M25122T|TTN-AS1_ENST00000587568.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M24997T|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.M34062T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32421	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			CGATGCTGTCATGCGAGATTT	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.(102184-102186)aTg>aCg		titin							131	131	131					2																	179399157		1938	4128	6066	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179399157A>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.97262T>C	2.37:g.179399157A>G	ENSP00000465570:p.Met32421Thr					TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M25122T|TTN_ENST00000342992.6_Missense_Mutation_p.M31494T|TTN_ENST00000342175.6_Missense_Mutation_p.M25189T|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M32421T|TTN_ENST00000460472.2_Missense_Mutation_p.M24997T|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000450692.2_RNA	p.M34062T	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)		358	102409	-			32421			Ig-like 151.		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.102185T>C		.	.	.	.	.	.	.	.	.	.	A	14.43	2.532817	0.45073	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	6.02	6.02	0.97574	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.62925	0.2468	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.85130	0.997;0.997;0.997;0.997	T	0.65446	-0.6166	9	0.87932	D	0	.	15.5246	0.75894	1.0:0.0:0.0:0.0	.	24997;25122;25189;32421	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	31494;24997;25189;25122;24994	ENSP00000343764:M31494T;ENSP00000434586:M24997T;ENSP00000340554:M25189T;ENSP00000352154:M25122T	ENSP00000340554:M25189T	M	-	2	0	TTN	179107403	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.309000	0.96252	2.304000	0.77564	0.528000	0.53228	ATG		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		43	67	0	0	0	1	0	43	67					G	179399157	A	G	179399157	3	3	243	1	0	0	0	0	1	0	0	0	16732	217	8	3	5814	3	TTN	2	179399157	Missense_Mutation	SNP	A	TCGA-EL-A3TB-01A-11D-A22D-08	105786070	179399157	63800216	6	5241											
PRKAR2A	5576	broad.mit.edu	37	chr3	48789079	48789079	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaccagctgttcctcaTagtgtgagatgttcctcttc	7	12	4	1			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr3:48789079T>C	ENST00000265563.8	-	11	1403	c.1154A>G	c.(1153-1155)tAt>tGt	p.Y385C	PRKAR2A_ENST00000296446.8_Missense_Mutation_p.Y363C|PRKAR2A_ENST00000454963.1_Missense_Mutation_p.Y385C	NM_004157.2	NP_004148.1	P13861	KAP2_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, alpha	385					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|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)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)		SLC26A6/PRKAR2A(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		CTGTTCCTCATAGTGTGAGAT	0.512																																						ENST00000265563.8																		SLC26A6/PRKAR2A(2)	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	6						c.(1153-1155)tAt>tGt		protein kinase, cAMP-dependent, regulatory, type II, alpha							91	78	83					3																	48789079		2203	4300	6503	SO:0001583	missense	5576				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|membrane fraction	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr3:48789079T>C		CCDS2778.1	3p21.3-p21.2	2009-07-10			ENSG00000114302	ENSG00000114302	2.7.11.1		9391	protein-coding gene	gene with protein product		176910		PRKAR2		9676433	Standard	NM_004157		Approved		uc003cux.1	P13861	OTTHUMG00000133540	ENST00000265563.8:c.1154A>G	3.37:g.48789079T>C	ENSP00000265563:p.Tyr385Cys					PRKAR2A_ENST00000454963.1_Missense_Mutation_p.Y385C|PRKAR2A_ENST00000296446.8_Missense_Mutation_p.Y363C	p.Y385C	NM_004157.2	NP_004148.1	P13861	KAP2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)	11	1403	-			385					Q16823|Q9BUB1	Missense_Mutation	SNP	ENST00000265563.8	37	c.1154A>G	CCDS2778.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.539716	0.85917	.	.	ENSG00000114302	ENST00000265563;ENST00000454963;ENST00000296446	T;T;T	0.43688	0.94;0.94;0.94	6.17	6.17	0.99709	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.75110	0.3805	H	0.94658	3.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.82506	-0.0423	10	0.87932	D	0	-0.0867	16.8222	0.85835	0.0:0.0:0.0:1.0	.	363;385	Q9BUB1;P13861	.;KAP2_HUMAN	C	385;385;363	ENSP00000265563:Y385C;ENSP00000394041:Y385C;ENSP00000296446:Y363C	ENSP00000265563:Y385C	Y	-	2	0	PRKAR2A	48764083	1.000000	0.71417	0.938000	0.37757	0.994000	0.84299	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	TAT		0.512	PRKAR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257518.1			11	20	0	0	0	1	0	11	20					C	48789079	T	C	48789079	3	2	243	1	0	0	0	0	1	0	0	0	12505	1406	49	3	64	3	PRKAR2A	3	48789079	Missense_Mutation	SNP	T	TCGA-EL-A3TB-01A-11D-A22D-08		48789079	149233351	7	5242											
EPHA6	285220	broad.mit.edu	37	chr3	97202876	97202876	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggagattgatccctcaagaAttcgtattgagagagtcatt	10	6	2	5			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr3:97202876A>T	ENST00000514100.1	+	7	591	c.349A>T	c.(349-351)Att>Ttt	p.I117F	EPHA6_ENST00000389672.5_Missense_Mutation_p.I725F|EPHA6_ENST00000442602.2_Missense_Mutation_p.I91F|EPHA6_ENST00000502694.1_Missense_Mutation_p.I117F	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	631	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TCCCTCAAGAATTCGTATTGA	0.378																																						ENST00000389672.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						c.(2173-2175)Att>Ttt		EPH receptor A6							96	98	97					3																	97202876		1860	4110	5970	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97202876A>T	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000514100.1:c.349A>T	3.37:g.97202876A>T	ENSP00000421711:p.Ile117Phe					EPHA6_ENST00000442602.2_Missense_Mutation_p.I91F|EPHA6_ENST00000514100.1_Missense_Mutation_p.I117F|EPHA6_ENST00000502694.1_Missense_Mutation_p.I117F	p.I725F	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN			10	2211	+			630			Protein kinase.		D6RAL5	Missense_Mutation	SNP	ENST00000514100.1	37	c.2173A>T		.	.	.	.	.	.	.	.	.	.	A	25.3	4.628588	0.87560	.	.	ENSG00000080224	ENST00000389672;ENST00000514100;ENST00000502694;ENST00000442602	T;T;T;D	0.87179	0.45;1.21;1.21;-2.22	5.42	5.42	0.78866	Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.91486	0.7312	L	0.49699	1.58	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.999;0.999;0.994;0.999	D	0.92428	0.5951	9	0.87932	D	0	.	15.5233	0.75881	1.0:0.0:0.0:0.0	.	91;630;117;117	B4DXQ6;Q9UF33;Q9UF33-2;D6RAL5	.;EPHA6_HUMAN;.;.	F	725;117;117;91	ENSP00000374323:I725F;ENSP00000421711:I117F;ENSP00000423950:I117F;ENSP00000403100:I91F	ENSP00000374323:I725F	I	+	1	0	EPHA6	98685566	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.958000	0.93099	2.071000	0.62044	0.454000	0.30748	ATT		0.378	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000359997.1	NM_001080448		10	17	0	0	0	1	0	10	17					T	97202876	A	T	97202876	3	4	243	1	0	0	0	0	1	0	0	0	5171	101	4	5	2279	5	EPHA6	3	97202876	Missense_Mutation	SNP	A	TCGA-EL-A3TB-01A-11D-A22D-08	48413797	97202876	100819554	8	5243											
F2RL1	2150	broad.mit.edu	37	chr5	76128981	76128981	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgtgaaccccatggggcaCtccaggaagaaggcaaacat	11	11	0	2			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr5:76128981C>T	ENST00000296677.4	+	2	755	c.549C>T	c.(547-549)caC>caT	p.H183H		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	183					blood coagulation (GO:0007596)|chemokine (C-C motif) ligand 2 secretion (GO:0035926)|chemokine secretion (GO:0090195)|defense response to virus (GO:0051607)|establishment of endothelial barrier (GO:0061028)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|interleukin-1 beta secretion (GO:0050702)|interleukin-10 secretion (GO:0072608)|leukocyte migration (GO:0050900)|leukocyte proliferation (GO:0070661)|mature dendritic cell differentiation (GO:0097029)|negative regulation of chemokine secretion (GO:0090198)|negative regulation of JNK cascade (GO:0046329)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neutrophil activation (GO:0042119)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of cell migration (GO:0030335)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of eosinophil degranulation (GO:0043311)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of neutrophil mediated killing of gram-negative bacterium (GO:0070963)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|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 vasodilation (GO:0045909)|regulation of blood coagulation (GO:0030193)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of JNK cascade (GO:0046328)|T cell activation involved in immune response (GO:0002286)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CCATGGGGCACTCCAGGAAGA	0.488																																						ENST00000296677.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13						c.(547-549)caC>caT		coagulation factor II (thrombin) receptor-like 1							211	191	198					5																	76128981		2203	4300	6503	SO:0001819	synonymous_variant	2150				blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity	g.chr5:76128981C>T	BC018130	CCDS4033.1	5q13	2012-08-08			ENSG00000164251	ENSG00000164251		"GPCR / Class A : Protease activated receptors"	3538	protein-coding gene	gene with protein product	"proteinase-activated receptor-2"	600933		GPR11		7937743, 7556175	Standard	NM_005242		Approved	PAR2	uc003keo.3	P55085	OTTHUMG00000102118	ENST00000296677.4:c.549C>T	5.37:g.76128981C>T							p.H183H	NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)	2	755	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	183					Q13317|Q13346|Q53XJ8	Silent	SNP	ENST00000296677.4	37	c.549C>T	CCDS4033.1																																																																																				0.488	F2RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219957.2			7	141	0	0	0	1	0	7	141					T	76128981	C	T	76128981	2	4	243	1	0	0	0	0	0	0	0	1	5344	564	20	2		2	F2RL1	5	76128981	Silent	SNP	C	TCGA-EL-A3TB-01A-11D-A22D-08		76128981	104786279	9	5244											
WWC1	23286	broad.mit.edu	37	chr5	167891808	167891808	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggagttagacctgcaggcGacaagaacctggcacagcca	12	12	0	2	rs372157598		TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr5:167891808G>A	ENST00000265293.4	+	21	3493	c.2991G>A	c.(2989-2991)gcG>gcA	p.A997A	WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Silent_p.A1003A	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	997	Interaction with histone H3.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		ACCTGCAGGCGACAAGAACCT	0.612																																						ENST00000265293.4																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43						c.(2989-2991)gcG>gcA		WW and C2 domain containing 1		G	,,	1,4405	2.1+/-5.4	0,1,2202	70	68	69		3009,3009,2991	-10.3	0.2	5		69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	WWC1	NM_001161661.1,NM_001161662.1,NM_015238.2	,,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,	1003/1120,1003/1119,997/1114	167891808	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167891808G>A	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"WW, C2 and coiled-coil domain containing"	29435	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 168"	610533	"WW, C2 and coiled-coil domain containing 1"			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.2991G>A	5.37:g.167891808G>A						WWC1_ENST00000521089.1_Silent_p.A1003A|WWC1_ENST00000522140.1_3'UTR	p.A997A	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	21	3493	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	997			Interaction with histone H3.		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Silent	SNP	ENST00000265293.4	37	c.2991G>A	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	G	1.028	-0.682876	0.03353	2.27E-4	1.16E-4	ENSG00000113645	ENST00000393895;ENST00000524228	.	.	.	5.14	-10.3	0.00346	.	.	.	.	.	T	0.32436	0.0829	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40440	-0.9563	4	.	.	.	.	2.261	0.04067	0.215:0.3974:0.1253:0.2623	.	.	.	.	N	965;774	.	.	D	+	1	0	WWC1	167824386	0.001000	0.12720	0.239000	0.24122	0.020000	0.10135	-1.951000	0.01529	-1.772000	0.01292	-1.056000	0.02311	GAC		0.612	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		22	41	0	0	0	1	0	22	41					A	167891808	G	A	167891808	2	1	243	1	0	0	0	0	0	0	0	1	17408	1045	37	1		1	WWC1	5	167891808	Silent	SNP	G	TCGA-EL-A3TB-01A-11D-A22D-08	91762827	167891808	13023452	10	5245											
VARS	7407	broad.mit.edu	37	chr6	31760609	31760609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcggaattctggctgccGgacacacgtgacaaaccagc	12	13	1	1			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr6:31760609G>A	ENST00000375663.3	-	4	1026	c.586C>T	c.(586-588)Cgg>Tgg	p.R196W	VARS_ENST00000444930.2_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	196	GST C-terminal.				gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	TCTGGCTGCCGGACACACGTG	0.557																																						ENST00000375663.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30						c.(586-588)Cgg>Tgg		valyl-tRNA synthetase	L-Valine(DB00161)						49	50	49					6																	31760609		2203	4300	6503	SO:0001583	missense	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31760609G>A	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	12651	protein-coding gene	gene with protein product	"valine tRNA ligase 1, cytoplasmic"	192150	"valyl-tRNA synthetase 2"	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.586C>T	6.37:g.31760609G>A	ENSP00000364815:p.Arg196Trp					VARS_ENST00000444930.2_5'UTR	p.R196W	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN			4	1026	-			196			GST C-terminal.		B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	37	c.586C>T	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.235989	0.58886	.	.	ENSG00000204394	ENST00000375663	T	0.02177	4.41	5.24	5.24	0.73138	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.379447	0.27056	N	0.021145	T	0.01124	0.0037	N	0.14661	0.345	0.80722	D	1	P	0.51057	0.941	B	0.43360	0.417	T	0.68773	-0.5320	10	0.72032	D	0.01	-7.6021	14.3229	0.66499	0.0:0.0:1.0:0.0	.	196	P26640	SYVC_HUMAN	W	196	ENSP00000364815:R196W	ENSP00000364815:R196W	R	-	1	2	VARS	31868588	1.000000	0.71417	0.997000	0.53966	0.545000	0.35147	4.155000	0.58131	2.427000	0.82271	0.467000	0.42956	CGG		0.557	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		3	53	0	0	0	1	0	3	53					A	31760609	G	A	31760609	3	1	243	1	0	0	0	0	1	0	0	0	17120	1115	39	1	3316	1	VARS	6	31760609	Missense_Mutation	SNP	G	TCGA-EL-A3TB-01A-11D-A22D-08		31760609	139354458	11	5246											
GRM4	2914	broad.mit.edu	37	chr6	34059809	34059809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtccgagggcaccacgcggGagaagaagtcgtagcggctg	17	10	0	2			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr6:34059809G>A	ENST00000538487.2	-	3	1030	c.587C>T	c.(586-588)tCc>tTc	p.S196F	GRM4_ENST00000374181.4_Missense_Mutation_p.S196F|GRM4_ENST00000609222.1_Missense_Mutation_p.S63F|GRM4_ENST00000455714.2_Missense_Mutation_p.S56F|GRM4_ENST00000374177.3_Missense_Mutation_p.S127F|GRM4_ENST00000535756.1_Missense_Mutation_p.S63F|GRM4_ENST00000544773.2_Missense_Mutation_p.S27F	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	196					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CACCACGCGGGAGAAGAAGTC	0.642																																						ENST00000374181.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(586-588)tCc>tTc		glutamate receptor, metabotropic 4	L-Glutamic Acid(DB00142)						115	87	96					6																	34059809		2203	4300	6503	SO:0001583	missense	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34059809G>A	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.587C>T	6.37:g.34059809G>A	ENSP00000440556:p.Ser196Phe					GRM4_ENST00000455714.2_Missense_Mutation_p.S56F|GRM4_ENST00000538487.1_Missense_Mutation_p.S196F|GRM4_ENST00000544773.1_Missense_Mutation_p.S27F|GRM4_ENST00000374177.3_Missense_Mutation_p.S127F|GRM4_ENST00000535756.1_Missense_Mutation_p.S63F	p.S196F	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN			2	756	-			196					B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	c.587C>T	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472697	0.84640	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57;-1.57	3.83	3.83	0.44106	Extracellular ligand-binding receptor (1);	0.000000	0.64402	U	0.000001	T	0.79828	0.4513	L	0.44542	1.39	0.80722	D	1	B;B;D;D;D;P	0.76494	0.041;0.262;0.999;0.997;0.997;0.54	B;B;D;D;D;B	0.83275	0.055;0.108;0.995;0.996;0.996;0.292	T	0.78558	-0.2158	10	0.05436	T	0.98	.	15.882	0.79211	0.0:0.0:1.0:0.0	.	196;27;56;196;196;63	B7ZLU9;B7Z1T9;F5GXM5;A1L4F9;Q14833;B3KVL9	.;.;.;.;GRM4_HUMAN;.	F	196;127;63;27;196;56	ENSP00000363296:S196F;ENSP00000363292:S127F;ENSP00000437925:S63F;ENSP00000437730:S27F;ENSP00000440556:S196F;ENSP00000398456:S56F	ENSP00000363292:S127F	S	-	2	0	GRM4	34167787	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.652000	0.98499	1.961000	0.56991	0.561000	0.74099	TCC		0.642	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			21	73	0	0	0	1	0	21	73					A	34059809	G	A	34059809	3	1	243	1	0	0	0	0	1	0	0	0	6799	1174	41	2	2187	2	GRM4	6	34059809	Missense_Mutation	SNP	G	TCGA-EL-A3TB-01A-11D-A22D-08	2299200	34059809	137055258	12	5247											
C6orf138	442213	broad.mit.edu	37	chr6	48036187	48036187	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agcgaccaggcgctccaggtCgccctcgggctggaagcggt	16	14	0	0			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr6:48036187C>A	ENST00000339488.4	-	1	238	c.205G>T	c.(205-207)Gac>Tac	p.D69Y	PTCHD4_ENST00000543600.1_Missense_Mutation_p.D52Y	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	69						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										CGCTCCAGGTCGCCCTCGGGC	0.652																																						ENST00000543600.1																			0											c.(154-156)Gac>Tac		patched domain containing 4							31	36	34					6																	48036187		1980	4162	6142	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:48036187C>A		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.205G>T	6.37:g.48036187C>A	ENSP00000341914:p.Asp69Tyr					PTCHD4_ENST00000339488.4_Missense_Mutation_p.D69Y	p.D52Y			Q6ZW05	CF138_HUMAN			1	193	-			69					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.154G>T	CCDS34473.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.10|15.10	2.733386|2.733386	0.48939|0.48939	.|.	.|.	ENSG00000244694|ENSG00000244694	ENST00000339488;ENST00000543600|ENST00000398738	D;T|.	0.95171|.	-3.63;0.17|.	4.56|4.56	3.66|3.66	0.41972|0.41972	.|.	0.194425|.	0.42682|.	D|.	0.000669|.	T|T	0.60637|0.60637	0.2284|0.2284	M|M	0.65498|0.65498	2.005|2.005	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.996|.	T|T	0.61778|0.61778	-0.6993|-0.6993	10|5	0.87932|.	D|.	0|.	.|.	14.3095|14.3095	0.66407|0.66407	0.0:0.85:0.15:0.0|0.0:0.85:0.15:0.0	.|.	69;52|.	Q6ZW05;B0QZ29|.	CF138_HUMAN;.|.	Y|L	69;52|68	ENSP00000341914:D69Y;ENSP00000439864:D52Y|.	ENSP00000341914:D69Y|.	D|R	-|-	1|2	0|0	C6orf138|C6orf138	48144146|48144146	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.942000|0.942000	0.58702|0.58702	4.578000|4.578000	0.60929|0.60929	0.855000|0.855000	0.35359|0.35359	0.545000|0.545000	0.68477|0.68477	GAC|CGA		0.652	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		3	37	1	0	0.004672	1	0.0047888	3	37					A	48036187	C	A	48036187	3	1	243	1	0	0	0	0	1	0	0	0	2332	884	31	4	2347	4	C6orf138	6	48036187	Missense_Mutation	SNP	C	TCGA-EL-A3TB-01A-11D-A22D-08	13976378	48036187	123078880	13	5248											
ZNF92	168374	broad.mit.edu	37	chr7	64863789	64863789	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaaataattcatactggagaGaaaccctacaaatgtgaaga	7	6	1	3			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr7:64863789G>A	ENST00000328747.7	+	4	961	c.762G>A	c.(760-762)gaG>gaA	p.E254E	ZNF92_ENST00000357512.2_Silent_p.E222E|ZNF92_ENST00000431504.1_Silent_p.E178E|ZNF92_ENST00000450302.2_Silent_p.E185E	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	254					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				ATACTGGAGAGAAACCCTACA	0.353																																						ENST00000328747.7																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13						c.(760-762)gaG>gaA		zinc finger protein 92							37	41	40					7																	64863789		2152	4257	6409	SO:0001819	synonymous_variant	168374					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:64863789G>A	M61872	CCDS34646.1, CCDS47596.1, CCDS75608.1, CCDS75609.1	7q11.21	2013-01-08	2006-05-12		ENSG00000146757	ENSG00000146757		"Zinc fingers, C2H2-type", "-"	13168	protein-coding gene	gene with protein product		603974	"zinc finger protein 92 (HTF12)"			8467795	Standard	NM_001287533		Approved	HPF12, TF12	uc003ttz.3	Q03936	OTTHUMG00000156557	ENST00000328747.7:c.762G>A	7.37:g.64863789G>A						ZNF92_ENST00000450302.2_Silent_p.E185E|ZNF92_ENST00000357512.2_Silent_p.E222E|ZNF92_ENST00000431504.1_Silent_p.E178E	p.E254E	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN			4	961	+		Lung NSC(55;0.159)	254					A6NNF9|Q8N492|Q8NB35	Silent	SNP	ENST00000328747.7	37	c.762G>A	CCDS34646.1																																																																																				0.353	ZNF92-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344589.2	NM_152626		3	39	0	0	0	1	0	3	39					A	64863789	G	A	64863789	2	1	243	1	0	0	0	0	0	0	0	1	18198	933	33	2		2	ZNF92	7	64863789	Silent	SNP	G	TCGA-EL-A3TB-01A-11D-A22D-08		64863789	94274874	14	5249											
MUC17	140453	broad.mit.edu	37	chr7	100685167	100685167	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaccagcacacctgtgacCacttcttctccaaccaattc	4	17	2	1			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr7:100685167C>T	ENST00000306151.4	+	3	10534	c.10470C>T	c.(10468-10470)acC>acT	p.T3490T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3490	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACCTGTGACCACTTCTTCTC	0.488																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(10468-10470)acC>acT		mucin 17, cell surface associated							227	241	236					7																	100685167		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100685167C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.10470C>T	7.37:g.100685167C>T							p.T3490T	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	10534	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3490			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.10470C>T	CCDS34711.1																																																																																				0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		143	202	0	0	0	1	0	143	202					T	100685167	C	T	100685167	2	4	243	1	0	0	0	0	0	0	0	1	9974	581	21	2		2	MUC17	7	100685167	Silent	SNP	C	TCGA-EL-A3TB-01A-11D-A22D-08	35821378	100685167	58453496	15	5250											
ST6GALNAC6	30815	broad.mit.edu	37	chr9	130658585	130658585	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcggcgtcctgcaggtggcCctgggggcagggatgtgggt	21	9	0	0			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr9:130658585C>T	ENST00000373146.1	-	3	232	c.53G>A	c.(52-54)gGg>gAg	p.G18E	ST6GALNAC6_ENST00000373141.1_5'UTR|ST6GALNAC6_ENST00000542456.1_5'UTR|ST6GALNAC6_ENST00000373144.3_5'UTR|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000373142.1_Missense_Mutation_p.G18E|ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.G18E			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	18					cell-cell recognition (GO:0009988)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGCAGGTGGCCCTGGGGGCAG	0.552																																						ENST00000373146.1																			0				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(52-54)gGg>gAg		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6							141	137	138					9																	130658585		2203	4300	6503	SO:0001583	missense	30815				protein glycosylation	integral to Golgi membrane|plasma membrane		g.chr9:130658585C>T	BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408		"Sialyltransferases"	23364	protein-coding gene	gene with protein product		610135	"sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F"	SIAT7F		12668675	Standard	XM_005251952		Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373146.1:c.53G>A	9.37:g.130658585C>T	ENSP00000362239:p.Gly18Glu					ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000542456.1_5'UTR|ST6GALNAC6_ENST00000373141.1_5'UTR|ST6GALNAC6_ENST00000373144.3_5'UTR|ST6GALNAC6_ENST00000373142.1_Missense_Mutation_p.G18E|ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.G18E	p.G18E			Q969X2	SIA7F_HUMAN			3	232	-			18					B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	Missense_Mutation	SNP	ENST00000373146.1	37	c.53G>A	CCDS6882.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.905601	0.33628	.	.	ENSG00000160408	ENST00000373146;ENST00000373142;ENST00000291839	T;T;T	0.56444	1.01;0.46;1.01	3.63	2.73	0.32206	.	0.148155	0.28057	N	0.016762	T	0.35038	0.0918	N	0.19112	0.55	0.27701	N	0.945774	P	0.36683	0.565	B	0.38225	0.268	T	0.20739	-1.0266	10	0.51188	T	0.08	-18.7194	7.0273	0.24946	0.0:0.8705:0.0:0.1295	.	18	Q969X2	SIA7F_HUMAN	E	18	ENSP00000362239:G18E;ENSP00000362235:G18E;ENSP00000291839:G18E	ENSP00000291839:G18E	G	-	2	0	ST6GALNAC6	129698406	0.999000	0.42202	0.871000	0.34182	0.029000	0.11900	1.935000	0.40173	0.859000	0.35456	-0.136000	0.14681	GGG		0.552	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054278.1	NM_013443		42	67	0	0	0	1	0	42	67					T	130658585	C	T	130658585	3	4	243	1	0	0	0	0	1	0	0	0	15227	623	22	2	968	2	ST6GALNAC6	9	130658585	Missense_Mutation	SNP	C	TCGA-EL-A3TB-01A-11D-A22D-08		130658585	10554846	16	5251											
COL5A1	1289	broad.mit.edu	37	chr9	137655578	137655578	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggcccagggggctgcctgggGagcccgtaagtctgtgagct	18	11	1	1			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr9:137655578G>T	ENST00000371817.3	+	20	2443	c.2029G>T	c.(2029-2031)Gag>Tag	p.E677*		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	677	Triple-helical region.			E -> K (in Ref. 1; BAA14323). {ECO:0000305}.|E -> Q (in Ref. 4; AA sequence). {ECO:0000305}.	axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GCTGCCTGGGGAGCCCGTAAG	0.592																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(2029-2031)Gag>Tag		collagen, type V, alpha 1							81	81	81					9																	137655578		2203	4300	6503	SO:0001587	stop_gained	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137655578G>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2029G>T	9.37:g.137655578G>T	ENSP00000360882:p.Glu677*						p.E677*	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	20	2443	+		Myeloproliferative disorder(178;0.0341)	677	E -> K (in Ref. 1; BAA14323).|E -> Q (in Ref. 4; AA sequence).		Triple-helical region.		Q15094|Q5SUX4	Nonsense_Mutation	SNP	ENST00000371817.3	37	c.2029G>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	43	9.907908	0.99293	.	.	ENSG00000130635	ENST00000371817	.	.	.	3.9	3.9	0.45041	.	0.187884	0.39687	U	0.001287	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.7621	0.62973	0.0:0.0:1.0:0.0	.	.	.	.	X	677	.	ENSP00000360882:E677X	E	+	1	0	COL5A1	136795399	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	7.015000	0.76387	1.904000	0.55121	0.462000	0.41574	GAG		0.592	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		4	81	1	0	1.23904e-05	1	1.41113e-05	4	81					T	137655578	G	T	137655578	4	4	243	1	0	0	0	0	0	1	0	0	3696	1175	41	4	2107	4	COL5A1	9	137655578	Nonsense_Mutation	SNP	G	TCGA-EL-A3TB-01A-11D-A22D-08	6996993	137655578	3557853	17	5252											
CSGALNACT2	55454	broad.mit.edu	37	chr10	43654323	43654323	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actagatcaattattaatatCattgtgccacttgctgaaag	6	7	2	2	rs375714621		TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr10:43654323C>A	ENST00000374466.3	+	3	1157	c.822C>A	c.(820-822)atC>atA	p.I274I	CSGALNACT2_ENST00000374464.1_Silent_p.I274I	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	274					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TTATTAATATCATTGTGCCAC	0.378																																						ENST00000374466.3																			0				endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(820-822)atC>atA		chondroitin sulfate N-acetylgalactosaminyltransferase 2		C		1,4405	2.1+/-5.4	0,1,2202	84	80	81		822	4.7	1.0	10		81	0,8600		0,0,4300	no	coding-synonymous	CSGALNACT2	NM_018590.3		0,1,6502	AA,AC,CC		0.0,0.0227,0.0077		274/543	43654323	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55454				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr10:43654323C>A	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"Beta 4-glycosyltransferases"	24292	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.822C>A	10.37:g.43654323C>A						CSGALNACT2_ENST00000374464.1_Silent_p.I274I	p.I274I	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN			3	1157	+			274					B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Silent	SNP	ENST00000374466.3	37	c.822C>A	CCDS7201.1																																																																																				0.378	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		3	57	1	0	0.00909568	1	0.00909568	3	57					A	43654323	C	A	43654323	2	1	243	1	0	0	0	0	0	0	0	1	3939	816	29	4		4	CSGALNACT2	10	43654323	Silent	SNP	C	TCGA-EL-A3TB-01A-11D-A22D-08		43654323	91880424	18	5253											
EIF3A	8661	broad.mit.edu	37	chr10	120797832	120797832	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gtccttgtcattctcctcccGatcttgattatctctgtccc	5	15	4	1			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr10:120797832G>C	ENST00000369144.3	-	20	3773	c.3646C>G	c.(3646-3648)Cgg>Ggg	p.R1216G	EIF3A_ENST00000541549.1_Missense_Mutation_p.R1182G	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ttctcctcccgatcttgatta	0.483																																						ENST00000369144.3																			0				endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56						c.(3646-3648)Cgg>Ggg		eukaryotic translation initiation factor 3, subunit A							261	214	230					10																	120797832		2203	4300	6503	SO:0001583	missense	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120797832G>C	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.3646C>G	10.37:g.120797832G>C	ENSP00000358140:p.Arg1216Gly					EIF3A_ENST00000541549.1_Missense_Mutation_p.R1182G|EIF3A_ENST00000478852.1_Intron	p.R1216G	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	20	3773	-		Lung NSC(174;0.094)|all_lung(145;0.123)	1216			Asp-rich.		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	c.3646C>G	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.281260	0.40394	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.26660	1.81;1.72	5.74	5.74	0.90152	.	0.000000	0.37304	N	0.002144	T	0.28134	0.0694	N	0.19112	0.55	0.35731	D	0.817922	D;B	0.56287	0.975;0.358	P;B	0.53313	0.723;0.091	T	0.10590	-1.0623	10	0.35671	T	0.21	-11.9695	15.7729	0.78184	0.0:0.0:1.0:0.0	.	1182;1216	F5H335;Q14152	.;EIF3A_HUMAN	G	1216;1182	ENSP00000358140:R1216G;ENSP00000438178:R1182G	ENSP00000358140:R1216G	R	-	1	2	EIF3A	120787822	1.000000	0.71417	0.999000	0.59377	0.873000	0.50193	3.715000	0.54897	2.873000	0.98535	0.561000	0.74099	CGG		0.483	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		3	82	0	0	0	1	0	3	82					C	120797832	G	C	120797832	3	2	243	1	0	0	0	0	1	0	0	0	5012	1057	37	4	514	4	EIF3A	10	120797832	Missense_Mutation	SNP	G	TCGA-EL-A3TB-01A-11D-A22D-08	77143509	120797832	14736915	19	5254											
TCP11L1	55346	broad.mit.edu	37	chr11	33087532	33087532	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactcaagatgattgtgaagAttttgctaacagatatgcac	8	6	1	5			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr11:33087532A>G	ENST00000334274.4	+	8	1529	c.1129A>G	c.(1129-1131)Att>Gtt	p.I377V	TCP11L1_ENST00000531632.2_Missense_Mutation_p.I377V|TCP11L1_ENST00000432887.1_Missense_Mutation_p.I377V|TCP11L1_ENST00000324357.9_Missense_Mutation_p.I156V	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	377						microtubule (GO:0005874)				kidney(1)|liver(2)|lung(2)|skin(1)	6						GATTGTGAAGATTTTGCTAAC	0.542											OREG0020866	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000334274.4																			0				kidney(1)|liver(2)|lung(2)|skin(1)	6						c.(1129-1131)Att>Gtt		t-complex 11, testis-specific-like 1							111	114	113					11																	33087532		2202	4298	6500	SO:0001583	missense	55346							g.chr11:33087532A>G	BC041696	CCDS7882.1	11p13	2014-08-12	2012-09-20		ENSG00000176148	ENSG00000176148			25655	protein-coding gene	gene with protein product			"t-complex 11 (mouse) like 1"				Standard	NM_001145541		Approved	FLJ11336	uc010rei.2	Q9NUJ3	OTTHUMG00000165303	ENST00000334274.4:c.1129A>G	11.37:g.33087532A>G	ENSP00000335595:p.Ile377Val		OREG0020866	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	837	TCP11L1_ENST00000531632.2_Missense_Mutation_p.I377V|TCP11L1_ENST00000324357.9_Missense_Mutation_p.I156V|TCP11L1_ENST00000432887.1_Missense_Mutation_p.I377V	p.I377V	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN			8	1529	+			377					D3DR01|Q8IVX4	Missense_Mutation	SNP	ENST00000334274.4	37	c.1129A>G	CCDS7882.1	.	.	.	.	.	.	.	.	.	.	A	4.268	0.048872	0.08243	.	.	ENSG00000176148	ENST00000334274;ENST00000531632;ENST00000432887;ENST00000324357	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	5.68	0.538	0.17150	.	0.414587	0.26499	N	0.024040	T	0.02848	0.0085	N	0.03281	-0.365	0.28438	N	0.916945	B	0.06786	0.001	B	0.08055	0.003	T	0.42799	-0.9430	10	0.05620	T	0.96	-50.6503	4.091	0.09970	0.2787:0.0:0.507:0.2143	.	377	Q9NUJ3	T11L1_HUMAN	V	377;377;377;156	ENSP00000335595:I377V;ENSP00000433067:I377V;ENSP00000395070:I377V;ENSP00000316279:I156V	ENSP00000316279:I156V	I	+	1	0	TCP11L1	33044108	1.000000	0.71417	0.983000	0.44433	0.991000	0.79684	2.366000	0.44204	0.086000	0.17137	0.459000	0.35465	ATT		0.542	TCP11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383377.4	NM_018393		45	143	0	0	0	1	0	45	143					G	33087532	A	G	33087532	3	3	243	1	0	0	0	0	1	0	0	0	15711	333	12	3	1155	3	TCP11L1	11	33087532	Missense_Mutation	SNP	A	TCGA-EL-A3TB-01A-11D-A22D-08		33087532	101918984	20	5255											
CASP5	838	broad.mit.edu	37	chr11	104879560	104879560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactggtcgacttttgatccGtattaggtactagggtctgg	12	8	1	1	rs201179331		TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr11:104879560G>A	ENST00000260315.3	-	2	154	c.155C>T	c.(154-156)aCg>aTg	p.T52M	CASP5_ENST00000393141.2_Missense_Mutation_p.T65M|CASP5_ENST00000526056.1_Missense_Mutation_p.T65M|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000393139.2_Missense_Mutation_p.T19M|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000444749.2_Intron			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	52					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		CTTTTGATCCGTATTAGGTAC	0.373																																						ENST00000393141.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35						c.(193-195)aCg>aTg		caspase 5, apoptosis-related cysteine peptidase							133	121	125					11																	104879560		2201	4298	6499	SO:0001583	missense	838				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104879560G>A		CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"Caspases"	1506	protein-coding gene	gene with protein product		602665	"caspase 5, apoptosis-related cysteine protease"			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.155C>T	11.37:g.104879560G>A	ENSP00000260315:p.Thr52Met					CASP5_ENST00000393139.2_Missense_Mutation_p.T19M|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000526056.1_Missense_Mutation_p.T65M|CASP5_ENST00000444749.2_Intron|CASP5_ENST00000260315.3_Missense_Mutation_p.T52M	p.T65M	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)	2	225	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	52			CARD.		B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Missense_Mutation	SNP	ENST00000260315.3	37	c.194C>T	CCDS8328.2	.	.	.	.	.	.	.	.	.	.	.	5.906	0.351283	0.11182	.	.	ENSG00000137757	ENST00000393141;ENST00000393139;ENST00000260315;ENST00000526056;ENST00000456094	T;T;T;T;T	0.27890	4.64;1.64;4.66;4.64;2.7	1.45	-2.9	0.05648	.	.	.	.	.	T	0.12135	0.0295	N	0.08118	0	0.09310	N	1	B;B	0.20780	0.028;0.048	B;B	0.09377	0.002;0.004	T	0.17379	-1.0371	9	0.66056	D	0.02	.	2.3436	0.04266	0.3508:0.0:0.3954:0.2537	.	52;65	P51878;P51878-5	CASP5_HUMAN;.	M	65;19;52;65;36	ENSP00000376849:T65M;ENSP00000376847:T19M;ENSP00000260315:T52M;ENSP00000436877:T65M;ENSP00000415241:T36M	ENSP00000260315:T52M	T	-	2	0	CASP5	104384770	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.537000	0.02206	-1.032000	0.03304	-0.300000	0.09419	ACG		0.373	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	NM_004347		6	66	0	0	0	1	0	6	66					A	104879560	G	A	104879560	3	1	243	1	0	0	0	0	1	0	0	0	2674	1145	40	1	1181	1	CASP5	11	104879560	Missense_Mutation	SNP	G	TCGA-EL-A3TB-01A-11D-A22D-08	71792028	104879560	30126956	21	5256											
FEZ1	9638	broad.mit.edu	37	chr11	125359608	125359608	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactggggcttctcctccggGtcctccgagcaggagggtcg	15	14	1	0			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr11:125359608G>A	ENST00000278919.3	-	2	300	c.66C>T	c.(64-66)gaC>gaT	p.D22D	FEZ1_ENST00000524435.1_Silent_p.D22D|FEZ1_ENST00000366139.3_Silent_p.D22D	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	22					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|establishment of mitochondrion localization (GO:0051654)|nervous system development (GO:0007399)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|transport (GO:0006810)	axon (GO:0030424)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		TCTCCTCCGGGTCCTCCGAGC	0.542																																					Melanoma(180;509 2033 10762 15939 24711)	ENST00000278919.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(64-66)gaC>gaT		fasciculation and elongation protein zeta 1 (zygin I)							69	74	72					11																	125359608		2201	4299	6500	SO:0001819	synonymous_variant	9638				axon guidance|cell adhesion|transport	microtubule|plasma membrane		g.chr11:125359608G>A	U60060	CCDS31716.1, CCDS44758.1	11q24.2	2005-09-29			ENSG00000149557	ENSG00000149557			3659	protein-coding gene	gene with protein product		604825				9096408, 15843383	Standard	NM_005103		Approved		uc001qbx.3	Q99689	OTTHUMG00000165886	ENST00000278919.3:c.66C>T	11.37:g.125359608G>A						FEZ1_ENST00000366139.3_Silent_p.D22D|FEZ1_ENST00000524435.1_Silent_p.D22D	p.D22D	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)	2	300	-	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	22					O00679|O00728|Q6IBI7	Silent	SNP	ENST00000278919.3	37	c.66C>T	CCDS31716.1																																																																																				0.542	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386875.1	NM_005103		44	71	0	0	0	1	0	44	71					A	125359608	G	A	125359608	2	1	243	1	0	0	0	0	0	0	0	1	5823	1252	44	2		2	FEZ1	11	125359608	Silent	SNP	G	TCGA-EL-A3TB-01A-11D-A22D-08	20480048	125359608	9646908	22	5257											
POLE2	5427	broad.mit.edu	37	chr14	50131361	50131366	+	In_Frame_Del	DEL	CATGCC	CATGCC	-													taccttctgctaagacaaagCatgcctctgtgtataaacca							TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr14:50131361_50131366delCATGCC	ENST00000216367.5	-	9	759_764	c.660_665delGGCATG	c.(658-666)gaggcatgc>gac	p.220_222EAC>D	POLE2_ENST00000554396.1_In_Frame_Del_p.220_222EAC>D|POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000539565.2_In_Frame_Del_p.194_196EAC>D	NM_002692.3	NP_002683.2	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	220					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	epsilon DNA polymerase complex (GO:0008622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)				Cladribine(DB00242)	TAAGACAAAGCATGCCTCTGTGTATA	0.35																																						ENST00000539565.2																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10						c.(580-588)gac>ga		polymerase (DNA directed), epsilon 2, accessory subunit																																				SO:0001651	inframe_deletion	5427				DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity	g.chr14:50131361_50131366delCATGCC	AF025840	CCDS32073.1, CCDS55914.1, CCDS55915.1	14q21-q22	2012-05-18	2012-05-18		ENSG00000100479	ENSG00000100479		"DNA polymerases"	9178	protein-coding gene	gene with protein product	"DNA polymerase epsilon subunit B"	602670	"polymerase (DNA directed), epsilon 2 (p59 subunit)"			9405441, 9443964	Standard	NM_002692		Approved	DPE2	uc001wwu.3	P56282	OTTHUMG00000170813	ENST00000216367.5:c.660_665delGGCATG	14.37:g.50131361_50131366delCATGCC	ENSP00000216367:p.Glu220_Cys222delinsAsp					POLE2_ENST00000216367.5_In_Frame_Del_p.EAC220del|POLE2_ENST00000554396.1_In_Frame_Del_p.EAC220del|POLE2_ENST00000556584.1_5'UTR	p.EAC194del	NM_001197330.1	NP_001184259.1	P56282	DPOE2_HUMAN			8	800_805	-	all_epithelial(31;0.0021)|Breast(41;0.0124)		220					A0AV55|A4FU92|A4LBB7|A6NH58|B4DDE6|O43560	In_Frame_Del	DEL	ENST00000216367.5	37	c.582_587delGGCATG	CCDS32073.1																																																																																				0.35	POLE2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410512.1	NM_002692		15	106						15	106	---	---	---	---	-	50131366	CATGCC	-	50131361	7	5	243	1	0	1	0	1	0	0	0	0	12197	710	25	0	962	0	POLE2	14	50131361	In_Frame_Del	DEL	CATGCC	TCGA-EL-A3TB-01A-11D-A22D-08		50131361	57218179	23	5258											
ZNF609	23060	broad.mit.edu	37	chr15	64966384	64966384	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taataagcggaaaaacaaacCcctttcagacatggagctga	8	9	1	2			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr15:64966384C>A	ENST00000326648.3	+	4	1459	c.1331C>A	c.(1330-1332)cCc>cAc	p.P444H	RNU6-549P_ENST00000384433.1_RNA|ZNF609_ENST00000559364.1_3'UTR	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	444						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAAAACAAACCCCTTTCAGAC	0.562																																						ENST00000326648.3																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1330-1332)cCc>cAc		zinc finger protein 609							72	73	72					15																	64966384		2203	4299	6502	SO:0001583	missense	23060					nucleus	zinc ion binding	g.chr15:64966384C>A	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"Zinc fingers, C2H2-type"	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.1331C>A	15.37:g.64966384C>A	ENSP00000316527:p.Pro444His					ZNF609_ENST00000559364.1_3'UTR	p.P444H	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN			4	1459	+			444					Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	c.1331C>A	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223625	0.58668	.	.	ENSG00000180357	ENST00000326648	T	0.52057	0.68	5.4	5.4	0.78164	.	0.046113	0.85682	D	0.000000	T	0.69611	0.3130	M	0.70275	2.135	0.80722	D	1	D	0.67145	0.996	D	0.77004	0.989	T	0.72330	-0.4326	10	0.72032	D	0.01	-15.8453	19.1915	0.93669	0.0:1.0:0.0:0.0	.	444	O15014	ZN609_HUMAN	H	444	ENSP00000316527:P444H	ENSP00000316527:P444H	P	+	2	0	ZNF609	62753437	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.528000	0.85240	0.650000	0.86243	CCC		0.562	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		3	74	1	0	0.004672	1	0.0047888	3	74					A	64966384	C	A	64966384	3	1	243	1	0	0	0	0	1	0	0	0	18032	623	22	4	1345	4	ZNF609	15	64966384	Missense_Mutation	SNP	C	TCGA-EL-A3TB-01A-11D-A22D-08		64966384	37565008	24	5259											
ZNF592	9640	broad.mit.edu	37	chr15	85345382	85345382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggaggaggaggaggaagagGaggcggcggcagcggagatg	24	4	0	2			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr15:85345382G>A	ENST00000560079.2	+	11	3850	c.3562G>A	c.(3562-3564)Gag>Aag	p.E1188K	ZNF592_ENST00000299927.3_Missense_Mutation_p.E1188K	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	1188					cell death (GO:0008219)|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(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ggaggaagaggaggCGGCGGC	0.607																																						ENST00000299927.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40						c.(3562-3564)Gag>Aag		zinc finger protein 592							12	14	13					15																	85345382		2198	4270	6468	SO:0001583	missense	9640				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:85345382G>A	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"Zinc fingers, C2H2-type"	28986	protein-coding gene	gene with protein product		613624	"spinocerebellar ataxia, autosomal recessive 5"	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.3562G>A	15.37:g.85345382G>A	ENSP00000452877:p.Glu1188Lys					ZNF592_ENST00000560079.2_Missense_Mutation_p.E1188K	p.E1188K			Q92610	ZN592_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		8	3584	+			1188					Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	c.3562G>A	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	G	4.241	0.043616	0.08196	.	.	ENSG00000166716	ENST00000299927	T	0.00612	6.22	2.12	2.12	0.27331	.	2.136570	0.03113	N	0.162712	T	0.00440	0.0014	N	0.08118	0	0.09310	N	1	P	0.34934	0.476	B	0.21546	0.035	T	0.42548	-0.9445	10	0.07990	T	0.79	.	9.8452	0.41024	0.0:0.0:1.0:0.0	.	1188	Q92610	ZN592_HUMAN	K	1188	ENSP00000299927:E1188K	ENSP00000299927:E1188K	E	+	1	0	ZNF592	83146386	0.054000	0.20591	0.004000	0.12327	0.103000	0.19146	1.175000	0.31944	0.846000	0.35142	0.563000	0.77884	GAG		0.607	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		7	13	0	0	0	1	0	7	13					A	85345382	G	A	85345382	3	1	243	1	0	0	0	0	1	0	0	0	18019	1175	41	2	3592	2	ZNF592	15	85345382	Missense_Mutation	SNP	G	TCGA-EL-A3TB-01A-11D-A22D-08	20378998	85345382	17186010	25	5260											
PGAP3	93210	broad.mit.edu	37	chr17	37842227	37842227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggaggtagagcccaacgGtgacccacatacactcatac	9	14	1	2			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr17:37842227G>A	ENST00000300658.4	-	2	319	c.227C>T	c.(226-228)aCc>aTc	p.T76I	ERBB2_ENST00000578199.1_5'Flank|PGAP3_ENST00000579146.1_Missense_Mutation_p.T76I|PGAP3_ENST00000378011.4_Missense_Mutation_p.T76I|ERBB2_ENST00000584601.1_5'Flank|ERBB2_ENST00000406381.2_5'Flank|PGAP3_ENST00000429199.2_Missense_Mutation_p.T76I	NM_033419.3	NP_219487.3	Q96FM1	PGAP3_HUMAN	post-GPI attachment to proteins 3	76					GPI anchor biosynthetic process (GO:0006506)|GPI anchor metabolic process (GO:0006505)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	hydrolase activity, acting on ester bonds (GO:0016788)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						GAGCCCAACGGTGACCCACAT	0.537																																						ENST00000300658.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(226-228)aCc>aTc		post-GPI attachment to proteins 3							160	104	123					17																	37842227		2203	4300	6503	SO:0001583	missense	93210				GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds	g.chr17:37842227G>A	AB088396	CCDS32641.1	17q21.2	2009-06-02	2009-06-02	2009-06-02		ENSG00000161395			23719	protein-coding gene	gene with protein product	"post-GPI attachment to proteins 3"	611801	"per1-like domain containing 1"	PERLD1		15010812, 17021251, 17314402	Standard	NM_001291728		Approved	MGC9753, CAB2, PP1498, PER1	uc002hsj.3	Q96FM1		ENST00000300658.4:c.227C>T	17.37:g.37842227G>A	ENSP00000300658:p.Thr76Ile					PGAP3_ENST00000429199.2_Missense_Mutation_p.T76I|PGAP3_ENST00000579146.1_Missense_Mutation_p.T76I|PGAP3_ENST00000378011.4_Missense_Mutation_p.T76I	p.T76I	NM_033419.3	NP_219487.3	Q96FM1	PGAP3_HUMAN			2	319	-			76					B4DGK7|Q86Z03|Q8NBJ8	Missense_Mutation	SNP	ENST00000300658.4	37	c.227C>T	CCDS32641.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.947603	0.92593	.	.	ENSG00000161395	ENST00000300658;ENST00000378011;ENST00000309862;ENST00000429199	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.64260	0.2582	L	0.41356	1.27	0.80722	D	1	B;P;D;D	0.53151	0.406;0.883;0.958;0.958	B;P;P;P	0.62491	0.393;0.903;0.743;0.745	T	0.56444	-0.7978	9	0.11182	T	0.66	-23.7715	17.5327	0.87819	0.0:0.0:1.0:0.0	.	76;20;76;76	B4DGK7;B4DVJ3;Q96FM1-2;Q96FM1	.;.;.;PGAP3_HUMAN	I	76;76;20;76	.	ENSP00000300658:T76I	T	-	2	0	PGAP3	35095753	1.000000	0.71417	0.995000	0.50966	0.947000	0.59692	8.533000	0.90617	2.440000	0.82611	0.561000	0.74099	ACC		0.537	PGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444825.2	NM_033419		3	57	0	0	0	1	0	3	57					A	37842227	G	A	37842227	3	1	243	1	0	0	0	0	1	0	0	0	11779	1261	44	2	763	2	PGAP3	17	37842227	Missense_Mutation	SNP	G	TCGA-EL-A3TB-01A-11D-A22D-08		37842227	43352983	26	5261											
KRTAP3-3	85293	broad.mit.edu	37	chr17	39150166	39150166	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcaggaagcaggtgggcaCgcagggctgaggaatgtggc	20	7	0	1	rs146610892	byFrequency	TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr17:39150166C>T	ENST00000391586.1	-	1	219	c.184G>A	c.(184-186)Gtg>Atg	p.V62M		NM_033185.2	NP_149441.1	Q9BYR6	KRA33_HUMAN	keratin associated protein 3-3	62						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.V62M(1)		lung(2)|prostate(2)	4		Breast(137;0.00043)				CAGGTGGGCACGCAGGGCTGA	0.632													C|||	7	0.00139776	0.0053	0	5008	,	,		18411	0		0	False		,,,				2504	0					ENST00000391586.1																			1	Substitution - Missense(1)	p.V62M(1)	prostate(1)	lung(2)|prostate(2)	4						c.(184-186)Gtg>Atg		keratin associated protein 3-3		C	MET/VAL	25,4381	31.7+/-61.6	0,25,2178	107	78	88		184	5.9	1.0	17	dbSNP_134	88	2,8586	2.2+/-6.3	0,2,4292	no	missense	KRTAP3-3	NM_033185.2	21	0,27,6470	TT,TC,CC		0.0233,0.5674,0.2078	probably-damaging	62/99	39150166	27,12967	2203	4294	6497	SO:0001583	missense	85293					keratin filament	structural molecule activity	g.chr17:39150166C>T	AJ406933	CCDS32643.1	17q21.2	2013-06-25			ENSG00000212899	ENSG00000212899		"Keratin associated proteins"	18890	protein-coding gene	gene with protein product						11279113	Standard	NM_033185		Approved	KAP3.3	uc002hvr.1	Q9BYR6	OTTHUMG00000133591	ENST00000391586.1:c.184G>A	17.37:g.39150166C>T	ENSP00000375428:p.Val62Met						p.V62M	NM_033185.2	NP_149441.1	Q9BYR6	KRA33_HUMAN			1	219	-		Breast(137;0.00043)	62					Q52LP0|Q6NTD4	Missense_Mutation	SNP	ENST00000391586.1	37	c.184G>A	CCDS32643.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233534	0.79688	0.005674	2.33E-4	ENSG00000212899	ENST00000391586	T	0.32515	1.45	5.89	5.89	0.94794	.	0.000000	0.51477	D	0.000090	T	0.49864	0.1582	.	.	.	0.39246	D	0.963944	D	0.89917	1.0	D	0.91635	0.999	T	0.60156	-0.7318	9	0.87932	D	0	.	15.8129	0.78578	0.0:1.0:0.0:0.0	.	62	Q9BYR6	KRA33_HUMAN	M	62	ENSP00000375428:V62M	ENSP00000375428:V62M	V	-	1	0	KRTAP3-3	36403692	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.511000	0.53400	2.801000	0.96364	0.650000	0.86243	GTG		0.632	KRTAP3-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257695.1			41	46	0	0	0	1	0	41	46					T	39150166	C	T	39150166	3	4	243	1	0	0	0	0	1	0	0	0	8547	536	19	1	116	1	KRTAP3-3	17	39150166	Missense_Mutation	SNP	C	TCGA-EL-A3TB-01A-11D-A22D-08	1307939	39150166	42045044	27	5262											
DCC	1630	broad.mit.edu	37	chr18	50734133	50734133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcgattcttagcttataatCgctatggtccgggcgtctct	9	10	2	0	rs267605206		TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr18:50734133C>T	ENST00000442544.2	+	11	2423	c.1807C>T	c.(1807-1809)Cgc>Tgc	p.R603C	DCC_ENST00000581580.1_Missense_Mutation_p.R258C|DCC_ENST00000412726.1_Missense_Mutation_p.R451C	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	603	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.R603C(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGCTTATAATCGCTATGGTCC	0.353																																						ENST00000442544.2																			1	Substitution - Missense(1)	p.R603C(1)	skin(1)	NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(1807-1809)Cgc>Tgc		deleted in colorectal carcinoma							146	150	149					18																	50734133		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50734133C>T	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1807C>T	18.37:g.50734133C>T	ENSP00000389140:p.Arg603Cys					DCC_ENST00000412726.1_Missense_Mutation_p.R451C|DCC_ENST00000581580.1_Missense_Mutation_p.R258C	p.R603C	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	11	2423	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	603			Fibronectin type-III 2.			Missense_Mutation	SNP	ENST00000442544.2	37	c.1807C>T	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.187618	0.38609	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.57907	0.37;0.37	5.83	5.83	0.93111	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.75428	0.3848	M	0.80847	2.515	0.58432	D	0.999995	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.944;0.944;0.994	T	0.77384	-0.2608	10	0.72032	D	0.01	.	18.8898	0.92395	0.0:1.0:0.0:0.0	.	451;451;603	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	C	603;536;451	ENSP00000389140:R603C;ENSP00000397322:R451C	ENSP00000304146:R536C	R	+	1	0	DCC	48988131	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.430000	0.52807	2.775000	0.95449	0.650000	0.86243	CGC		0.353	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		39	78	0	0	0	1	0	39	78					T	50734133	C	T	50734133	3	4	243	1	0	0	0	0	1	0	0	0	4282	884	31	1	1849	1	DCC	18	50734133	Missense_Mutation	SNP	C	TCGA-EL-A3TB-01A-11D-A22D-08		50734133	27343115	28	5263											
PRSSL1	400668	broad.mit.edu	37	chr19	687034	687034	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgggtccagcactcggaccTtggcctccatcagtccaggc	11	17	1	0			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr19:687034T>C	ENST00000329267.7	-	4	565	c.536A>G	c.(535-537)aAg>aGg	p.K179R		NM_214710.3	NP_999875	Q6UWY2	PRS57_HUMAN	protease, serine, 57	179	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|lung(5)	6						CACTCGGACCTTGGCCTCCAT	0.672																																						ENST00000329267.7																			0				central_nervous_system(1)|lung(5)	6						c.(535-537)aAg>aGg		protease, serine, 57							49	46	47					19																	687034		2203	4300	6503	SO:0001583	missense	400668				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:687034T>C	AY358594	CCDS12041.1	19p13.3	2012-03-26	2011-03-07	2011-03-07		ENSG00000185198		"Serine peptidases / Serine peptidases"	31397	protein-coding gene	gene with protein product			"protease, serine-like 1"	PRSSL1		12975309	Standard	NM_214710		Approved	UNQ782	uc002lpl.1	Q6UWY2		ENST00000329267.7:c.536A>G	19.37:g.687034T>C	ENSP00000327386:p.Lys179Arg						p.K179R	NM_214710.3	NP_999875.1	Q6UWY2	PRS57_HUMAN			4	565	-			179			Peptidase S1.		B2RNW8	Missense_Mutation	SNP	ENST00000329267.7	37	c.536A>G	CCDS12041.1	.	.	.	.	.	.	.	.	.	.	T	8.879	0.951256	0.18431	.	.	ENSG00000185198	ENST00000329267	D	0.88664	-2.41	4.72	3.7	0.42460	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.369009	0.19652	N	0.109185	T	0.79924	0.4530	N	0.20357	0.565	0.09310	N	1	B;B	0.18013	0.025;0.025	B;B	0.16289	0.015;0.015	T	0.69580	-0.5107	10	0.56958	D	0.05	.	9.0473	0.36354	0.0:0.0879:0.0:0.9121	.	178;179	B7ZMF6;Q6UWY2	.;PRS57_HUMAN	R	179	ENSP00000327386:K179R	ENSP00000327386:K179R	K	-	2	0	PRSS57	638034	0.003000	0.15002	0.266000	0.24541	0.108000	0.19459	0.757000	0.26433	0.685000	0.31468	0.379000	0.24179	AAG		0.672	PRSS57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452480.2	NM_214710		9	29	0	0	0	1	0	9	29					C	687034	T	C	687034	3	2	243	1	0	0	0	0	1	0	0	0	12636	1609	56	3	323	3	PRSSL1	19	687034	Missense_Mutation	SNP	T	TCGA-EL-A3TB-01A-11D-A22D-08		687034	58441949	29	5264											
MYO9B	4650	broad.mit.edu	37	chr19	17294679	17294680	+	Splice_Site	INS	-	-	A													aagcagatcattccaaaggtINSaaaaaaaaaaacacaccccg							TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr19:17294679_17294680insA	ENST00000594824.1	+	16	2520		c.e16+2		MYO9B_ENST00000397274.2_Splice_Site|MYO9B_ENST00000595618.1_Splice_Site			Q13459	MYO9B_HUMAN	myosin IXB						actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.?(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						ATTCCAAAGGTAAAAAAAAAAA	0.411																																						ENST00000595618.1																			2	Unknown(2)	p.?(2)	soft_tissue(2)	breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.e16+2		myosin IXB																																				SO:0001630	splice_region_variant	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17294679_17294680insA		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.2373+2->A	19.37:g.17294690_17294690dupA						MYO9B_ENST00000594824.1_Splice_Site|MYO9B_ENST00000397274.2_Splice_Site		NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN			16	2525	+								O75314|Q9NUJ2|Q9UHN0	Splice_Site	INS	ENST00000594824.1	37																																																																																						0.411	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1		Intron	3	3						3	3	---	---	---	---	A	17294680	-	A	17294679	8	5	243	1	0	1	1	0	0	0	1	0	10085	1652	57	0	2433	0	MYO9B	19	17294679	Splice_Site	INS	-	TCGA-EL-A3TB-01A-11D-A22D-08	16607645	17294679	41834304	30	5265											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	9	17	2	0	rs145580328		TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51	56	55					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		4	150	0	0	0	1	0	4	150					G	37028425	A	G	37028425	3	3	243	1	0	0	0	0	1	0	0	0	5571	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-EL-A3TB-01A-11D-A22D-08		37028425	118242135	31	5266											
TRIM33	51592	broad.mit.edu	37	chr1	114968115	114968116	+	Frame_Shift_Ins	INS	-	-	T													gcttgtctaggatgctgttgINStgttgttgttgttgtagttg							TCGA-EL-A3ZG-01A-11D-A23M-08	TCGA-EL-A3ZG-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7706fa4-0ec2-4c1f-b0c5-d4efff97cccc	593d2302-87c2-48e3-b9a1-54511d86c105	g.chr1:114968115_114968116insT	ENST00000358465.2	-	9	1733_1734	c.1650_1651insA	c.(1648-1653)acacaafs	p.Q551fs	TRIM33_ENST00000450349.2_Frame_Shift_Ins_p.Q159fs|TRIM33_ENST00000369543.2_Frame_Shift_Ins_p.Q551fs	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	551					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGATGCTGTTGTGTTGTTGTTG	0.426			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	" tripartite motif-containing 33 (PTC7,TIF1G)"			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(1648-1653)acaacafs		tripartite motif containing 33																																				SO:0001589	frameshift_variant	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114968115_114968116insT	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"Tripartite motif containing / Tripartite motif containing", "Zinc fingers, PHD-type", "RING-type (C3HC4) zinc fingers"	16290	protein-coding gene	gene with protein product	"transcriptional intermediary factor 1 gamma", "ret-fused gene 7"	605769	"tripartite motif-containing 33"			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.1651dupA	1.37:g.114968116_114968116dupT	ENSP00000351250:p.Gln551fs					TRIM33_ENST00000369543.2_Frame_Shift_Ins_p.T551fs|TRIM33_ENST00000450349.2_Frame_Shift_Ins_p.T159fs	p.T551fs	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	1733_1734	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	551					O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Frame_Shift_Ins	INS	ENST00000358465.2	37	c.1650_1651insA	CCDS872.1																																																																																				0.426	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		7	296						7	296	---	---	---	---	T	114968116	-	T	114968115	7	5	244	1	0	1	1	0	0	0	0	0	16504	1386	48	0	1780	0	TRIM33	1	114968115	Frame_Shift_Ins	INS	-	TCGA-EL-A3ZG-01A-11D-A23M-08		114968115	134282506	1	5267											
ZNF860	344787	broad.mit.edu	37	chr3	32030998	32030998	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtagcaccgacagatatgatCgaaggcatcctggaaacaag	11	9	0	2	rs4639011	byFrequency	TCGA-EL-A3ZG-01A-11D-A23M-08	TCGA-EL-A3ZG-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7706fa4-0ec2-4c1f-b0c5-d4efff97cccc	593d2302-87c2-48e3-b9a1-54511d86c105	g.chr3:32030998C>T	ENST00000360311.4	+	2	976	c.427C>T	c.(427-429)Cga>Tga	p.R143*		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	143					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(3)|lung(4)|ovary(1)	8						CAGATATGATCGAAGGCATCC	0.403													C|||	408	0.0814696	0.2761	0.0346	5008	,	,		20440	0		0.0179	False		,,,				2504	0.001					ENST00000360311.4																			0				endometrium(3)|lung(4)|ovary(1)	8						c.(427-429)Cga>Tga		zinc finger protein 860		C	stop/ARG	271,1113		33,205,454	59	45	49		427	-0.7	0.0	3	dbSNP_111	49	59,3123		1,57,1533	yes	stop-gained	ZNF860	NM_001137674.2		34,262,1987	TT,TC,CC		1.8542,19.5809,7.2273		143/633	32030998	330,4236	692	1591	2283	SO:0001587	stop_gained	344787				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32030998C>T	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"Zinc fingers, C2H2-type", "-"	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.427C>T	3.37:g.32030998C>T	ENSP00000373274:p.Arg143*						p.R143*	NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN			2	976	+			143					B4DFA4	Nonsense_Mutation	SNP	ENST00000360311.4	37	c.427C>T	CCDS46784.1	170	0.07783882783882784	145	0.29471544715447157	12	0.03314917127071823	0	0.0	13	0.017150395778364115	C	27.7	4.851216	0.91277	0.195809	0.018542	ENSG00000197385	ENST00000360311	.	.	.	0.345	-0.691	0.11305	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.1762	0.10353	0.6425:0.3575:0.0:0.0	rs4639011;rs52793498;rs4639011	.	.	.	X	143	.	.	R	+	1	2	ZNF860	32006002	0.000000	0.05858	0.010000	0.14722	0.009000	0.06853	-0.710000	0.05024	-0.755000	0.04709	-0.782000	0.03352	CGA		0.403	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			5	63	0	0	0	1	0	5	63					T	32030998	C	T	32030998	4	4	244	1	0	0	0	0	0	1	0	0	18191	876	31	1	429	1	ZNF860	3	32030998	Nonsense_Mutation	SNP	C	TCGA-EL-A3ZG-01A-11D-A23M-08		32030998	165991432	2	5268											
SORBS2	8470	broad.mit.edu	37	chr4	186544620	186544622	+	In_Frame_Del	DEL	GGT	GGT	-													gcaggagctgatgaggtggcGgtggtggtggtggtggtgat					rs562339021		TCGA-EL-A3ZG-01A-11D-A23M-08	TCGA-EL-A3ZG-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7706fa4-0ec2-4c1f-b0c5-d4efff97cccc	593d2302-87c2-48e3-b9a1-54511d86c105	g.chr4:186544620_186544622delGGT	ENST00000284776.7	-	13	2458_2460	c.1949_1951delACC	c.(1948-1953)caccgc>cgc	p.H650del	SORBS2_ENST00000418609.1_In_Frame_Del_p.H554del|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_In_Frame_Del_p.H750del|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000431808.1_In_Frame_Del_p.H650del|SORBS2_ENST00000498125.1_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	650	His-rich.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ATGAggtggcggtggtggtggtg	0.522																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(1948-1953)cgc>c		sorbin and SH3 domain containing 2																																				SO:0001651	inframe_deletion	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186544620_186544622delGGT		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1949_1951delACC	4.37:g.186544629_186544631delGGT	ENSP00000284776:p.His650del					SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_In_Frame_Del_p.HR750del|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_In_Frame_Del_p.HR650del|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000418609.1_In_Frame_Del_p.HR554del|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron	p.HR650del			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	2512_2514	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	650			His-rich.		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	In_Frame_Del	DEL	ENST00000284776.7	37	c.1949_1951delACC	CCDS3845.1																																																																																				0.522	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		8	185						8	185	---	---	---	---	-	186544622	GGT	-	186544620	7	5	244	1	0	1	0	1	0	0	0	0	14928	1116	39	0	1387	0	SORBS2	4	186544620	In_Frame_Del	DEL	GGT	TCGA-EL-A3ZG-01A-11D-A23M-08		186544620	4609656	3	5269											
RAD17	5884	broad.mit.edu	37	chr5	68692367	68692367	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctcagtggtttctaataaaTaaaaaggtaaaaaaaaaaaa	5	4	2	0	rs200909538	byFrequency	TCGA-EL-A3ZG-01A-11D-A23M-08	TCGA-EL-A3ZG-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7706fa4-0ec2-4c1f-b0c5-d4efff97cccc	593d2302-87c2-48e3-b9a1-54511d86c105	g.chr5:68692367T>A	ENST00000509734.1	+	15	2277	c.1599T>A	c.(1597-1599)aaT>aaA	p.N533K	RAD17_ENST00000305138.4_Missense_Mutation_p.N522K|RAD17_ENST00000354868.5_Missense_Mutation_p.N522K|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000282891.6_Missense_Mutation_p.N436K|RAD17_ENST00000354312.3_Missense_Mutation_p.N522K|RAD17_ENST00000345306.6_Missense_Mutation_p.N522K|RAD17_ENST00000521422.1_Missense_Mutation_p.N357K|RAD17_ENST00000358030.2_Missense_Mutation_p.N357K|RAD17_ENST00000380774.3_Missense_Mutation_p.N533K|RAD17_ENST00000361732.2_Missense_Mutation_p.N522K			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	533	Interaction with MCM7.				cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TTCTAATAAATAAAAAGGTAA	0.338								Other conserved DNA damage response genes																														ENST00000509734.1																			0											c.(1597-1599)aaT>aaA	Other conserved DNA damage response genes	RAD17 homolog (S. pombe)							19	19	19					5																	68692367		2203	4300	6503	SO:0001583	missense	5884				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr5:68692367T>A	AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"RAD1 (S. pombe) homolog"			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.1599T>A	5.37:g.68692367T>A	ENSP00000426191:p.Asn533Lys					RAD17_ENST00000282891.6_Missense_Mutation_p.N436K|RAD17_ENST00000361732.2_Missense_Mutation_p.N522K|RAD17_ENST00000305138.4_Missense_Mutation_p.N522K|RAD17_ENST00000345306.6_Missense_Mutation_p.N522K|RAD17_ENST00000380774.3_Missense_Mutation_p.N533K|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000354312.3_Missense_Mutation_p.N522K|RAD17_ENST00000354868.5_Missense_Mutation_p.N522K|RAD17_ENST00000521422.1_Missense_Mutation_p.N357K|RAD17_ENST00000358030.2_Missense_Mutation_p.N357K	p.N533K			O75943	RAD17_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)	15	2277	+		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	533			Interaction with MCM7.		A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Missense_Mutation	SNP	ENST00000509734.1	37	c.1599T>A	CCDS4003.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.328380	0.41197	.	.	ENSG00000152942	ENST00000361732;ENST00000509734;ENST00000354868;ENST00000521422;ENST00000354312;ENST00000345306;ENST00000305138;ENST00000282891;ENST00000358030;ENST00000380774;ENST00000513214	T;T;T;T;T;T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9	5.24	1.46	0.22682	.	0.188302	0.56097	D	0.000039	T	0.25121	0.0610	M	0.64404	1.975	0.37592	D	0.920216	P;P;B	0.43973	0.587;0.823;0.348	B;P;B	0.46320	0.287;0.512;0.191	T	0.19224	-1.0312	10	0.16420	T	0.52	0.2205	5.2212	0.15370	0.0:0.24:0.1489:0.6111	.	533;436;522	O75943;O75943-4;O75943-2	RAD17_HUMAN;.;.	K	522;533;522;357;522;522;522;436;357;533;141	ENSP00000355226:N522K;ENSP00000426191:N533K;ENSP00000346938:N522K;ENSP00000427743:N357K;ENSP00000346271:N522K;ENSP00000311227:N522K;ENSP00000303134:N522K;ENSP00000282891:N436K;ENSP00000350725:N357K;ENSP00000370151:N533K;ENSP00000425005:N141K	ENSP00000282891:N436K	N	+	3	2	RAD17	68728123	1.000000	0.71417	0.998000	0.56505	0.894000	0.52154	1.030000	0.30153	0.071000	0.16664	0.455000	0.32223	AAT		0.338	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1	NM_133344		6	4	0	0	0	1	0	6	4					A	68692367	T	A	68692367	3	1	244	1	0	0	0	0	1	0	0	0	12979	1403	49	5	1662	5	RAD17	5	68692367	Missense_Mutation	SNP	T	TCGA-EL-A3ZG-01A-11D-A23M-08		68692367	112222893	4	5270											
C6orf15	29113	broad.mit.edu	37	chr6	31079317	31079317	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctggataccgattaatattCccccagctgcctcctggata	7	14	0	0	rs112157845	byFrequency	TCGA-EL-A3ZG-01A-11D-A23M-08	TCGA-EL-A3ZG-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7706fa4-0ec2-4c1f-b0c5-d4efff97cccc	593d2302-87c2-48e3-b9a1-54511d86c105	g.chr6:31079317C>T	ENST00000259870.3	-	2	822	c.819G>A	c.(817-819)ggG>ggA	p.G273G		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	273	Gly-rich.				extracellular matrix organization (GO:0030198)	interstitial matrix (GO:0005614)	heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						GATTAATATTCCCCCAGCTGC	0.498													C|||	13	0.00259585	0.0061	0	5008	,	,		16732	0		0.004	False		,,,				2504	0.001					ENST00000259870.3																			0				endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						c.(817-819)ggG>ggA		chromosome 6 open reading frame 15							67	77	74					6																	31079317		1745	3412	5157	SO:0001819	synonymous_variant	29113							g.chr6:31079317C>T	AB031481	CCDS4693.1	6p21	2011-12-12			ENSG00000204542	ENSG00000204542			13927	protein-coding gene	gene with protein product		611401					Standard	NM_014070		Approved	STG	uc003nsk.1	Q6UXA7	OTTHUMG00000031111	ENST00000259870.3:c.819G>A	6.37:g.31079317C>T							p.G273G	NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN			2	822	-			273			Gly-rich.		B0S7V8|Q0EFA6|Q2L6G7|Q5SQ81|Q86Z05|Q9UIG3	Silent	SNP	ENST00000259870.3	37	c.819G>A	CCDS4693.1																																																																																				0.498	C6orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076184.2	NM_014070		18	83	0	0	0	1	0	18	83					T	31079317	C	T	31079317	2	4	244	1	0	0	0	0	0	0	0	1	2336	842	30	2		2	C6orf15	6	31079317	Silent	SNP	C	TCGA-EL-A3ZG-01A-11D-A23M-08		31079317	140035750	5	5271											
ME1	4199	broad.mit.edu	37	chr6	83963383	83963383	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaatgtgcaatactggtttCgatacttgttcaggagacga	11	6	1	2	rs142401926	byFrequency	TCGA-EL-A3ZG-01A-11D-A23M-08	TCGA-EL-A3ZG-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7706fa4-0ec2-4c1f-b0c5-d4efff97cccc	593d2302-87c2-48e3-b9a1-54511d86c105	g.chr6:83963383C>T	ENST00000369705.3	-	7	895	c.779G>A	c.(778-780)cGa>cAa	p.R260Q	ME1_ENST00000541327.1_Missense_Mutation_p.R94Q|ME1_ENST00000543031.1_Missense_Mutation_p.R185Q	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	260					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		ATACTGGTTTCGATACTTGTT	0.318													C|||	2	0.000399361	0	0.0014	5008	,	,		17878	0		0	False		,,,				2504	0.001					ENST00000369705.3																			0				NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(778-780)cGa>cAa		malic enzyme 1, NADP(+)-dependent, cytosolic	NADH(DB00157)	C	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	155	138	144		779	3.6	1.0	6	dbSNP_134	144	0,8598		0,0,4299	yes	missense	ME1	NM_002395.4	43	0,2,6500	TT,TC,CC		0.0,0.0454,0.0154	benign	260/573	83963383	2,13002	2203	4299	6502	SO:0001583	missense	4199				carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding	g.chr6:83963383C>T	X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.779G>A	6.37:g.83963383C>T	ENSP00000358719:p.Arg260Gln					ME1_ENST00000543031.1_Missense_Mutation_p.R185Q|ME1_ENST00000541327.1_Missense_Mutation_p.R94Q	p.R260Q	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0641)	7	895	-		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)	260					B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Missense_Mutation	SNP	ENST00000369705.3	37	c.779G>A	CCDS34492.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	17.21	3.332738	0.60853	4.54E-4	0.0	ENSG00000065833	ENST00000369705;ENST00000541327;ENST00000543031	T;T;T	0.49432	0.78;0.78;0.78	5.53	3.62	0.41486	Malic enzyme, N-terminal (2);	0.110564	0.64402	N	0.000006	T	0.24275	0.0588	L	0.61387	1.9	0.58432	D	0.999999	B	0.29590	0.25	B	0.25506	0.061	T	0.07158	-1.0787	10	0.46703	T	0.11	-2.6858	7.2351	0.26066	0.0:0.7624:0.0:0.2376	.	260	P48163	MAOX_HUMAN	Q	260;94;185	ENSP00000358719:R260Q;ENSP00000439912:R94Q;ENSP00000446114:R185Q	ENSP00000358719:R260Q	R	-	2	0	ME1	84020102	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.352000	0.52239	0.575000	0.29434	0.460000	0.39030	CGA		0.318	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1			3	28	0	0	0	1	0	3	28					T	83963383	C	T	83963383	3	4	244	1	0	0	0	0	1	0	0	0	9417	884	31	1	971	1	ME1	6	83963383	Missense_Mutation	SNP	C	TCGA-EL-A3ZG-01A-11D-A23M-08	52884066	83963383	87151684	6	5272											
MEPCE	56257	broad.mit.edu	37	chr7	100028823	100028825	+	In_Frame_Del	DEL	CCA	CCA	-													cgagggagttggggaggccgCcaccaccaccaccacccact					rs71555278		TCGA-EL-A3ZG-01A-11D-A23M-08	TCGA-EL-A3ZG-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7706fa4-0ec2-4c1f-b0c5-d4efff97cccc	593d2302-87c2-48e3-b9a1-54511d86c105	g.chr7:100028823_100028825delCCA	ENST00000310512.2	+	1	1570_1572	c.1182_1184delCCA	c.(1180-1185)cgccac>cgc	p.H399del	ZCWPW1_ENST00000324725.6_5'Flank|ZCWPW1_ENST00000398027.2_5'Flank|ZCWPW1_ENST00000360951.4_5'Flank|MEPCE_ENST00000414441.1_5'UTR	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	399					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGGAGGCCGCCACCACCACCAC	0.581																																						ENST00000310512.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1180-1185)cgc>cg		methylphosphate capping enzyme																																				SO:0001651	inframe_deletion	56257						methyltransferase activity	g.chr7:100028823_100028825delCCA	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"bin3, bicoid-interacting 3, homolog (Drosophila)"	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.1182_1184delCCA	7.37:g.100028832_100028834delCCA	ENSP00000308546:p.His399del					MEPCE_ENST00000414441.1_5'UTR	p.RH394del	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN			1	1570_1572	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		394					B3KP86|D6W5V7|Q9NPD4	In_Frame_Del	DEL	ENST00000310512.2	37	c.1182_1184delCCA	CCDS5693.1																																																																																				0.581	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			7	187						7	187	---	---	---	---	-	100028825	CCA	-	100028823	7	5	244	1	0	1	0	1	0	0	0	0	9477	726	26	0	1184	0	MEPCE	7	100028823	In_Frame_Del	DEL	CCA	TCGA-EL-A3ZG-01A-11D-A23M-08		100028823	59109840	7	5273											
SRPK2	6733	broad.mit.edu	37	chr7	104844169	104844169	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggggtctggcaaaggtggCggtggtggtggtggtggcgg	25	4	1	0	rs202128417	byFrequency	TCGA-EL-A3ZG-01A-11D-A23M-08	TCGA-EL-A3ZG-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7706fa4-0ec2-4c1f-b0c5-d4efff97cccc	593d2302-87c2-48e3-b9a1-54511d86c105	g.chr7:104844169C>T	ENST00000393651.3	-	3	222	c.135G>A	c.(133-135)ccG>ccA	p.P45P	SRPK2_ENST00000357311.3_Silent_p.P34P|SRPK2_ENST00000489828.1_Silent_p.P34P	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						GCAAAggtggcggtggtggtg	0.557																																						ENST00000357311.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						c.(100-102)ccG>ccA		SRSF protein kinase 2							49	43	45					7																	104844169		2203	4300	6503	SO:0001819	synonymous_variant	6733				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr7:104844169C>T	U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"SR protein kinase 2", "serine/arginine-rich splicing factor kinase 2"	602980	"SFRS protein kinase 2"			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.135G>A	7.37:g.104844169C>T						SRPK2_ENST00000489828.1_Silent_p.P34P|SRPK2_ENST00000393651.3_Silent_p.P45P	p.P34P	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN			2	273	-			34						Silent	SNP	ENST00000393651.3	37	c.102G>A	CCDS34724.1																																																																																				0.557	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1	NM_182691		4	55	0	0	0	1	0	4	55					T	104844169	C	T	104844169	2	4	244	1	0	0	0	0	0	0	0	1	15159	755	27	1		1	SRPK2	7	104844169	Silent	SNP	C	TCGA-EL-A3ZG-01A-11D-A23M-08	4815346	104844169	54294494	8	5274											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3ZG-01A-11D-A23M-08	TCGA-EL-A3ZG-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7706fa4-0ec2-4c1f-b0c5-d4efff97cccc	593d2302-87c2-48e3-b9a1-54511d86c105	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		16	29	0	0	0	1	0	16	29					T	140453136	A	T	140453136	3	4	244	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3ZG-01A-11D-A23M-08	35608967	140453136	18685527	9	5275											
NEURL	9148	broad.mit.edu	37	chr10	105344609	105344610	+	Frame_Shift_Del	DEL	GC	GC	-													gtggagcacgggcgcgacgaGcgcgcgctcgtcttcaccag							TCGA-EL-A3ZG-01A-11D-A23M-08	TCGA-EL-A3ZG-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7706fa4-0ec2-4c1f-b0c5-d4efff97cccc	593d2302-87c2-48e3-b9a1-54511d86c105	g.chr10:105344609_105344610delGC	ENST00000369780.4	+	4	1375_1376	c.966_967delGC	c.(964-969)gagcgcfs	p.R323fs	NEURL_ENST00000369777.2_Frame_Shift_Del_p.R306fs	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		323	NHR 2. {ECO:0000255|PROSITE- ProRule:PRU00400}.				brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GGCGCGACGAGCGCGCGCTCGT	0.752																																						ENST00000369780.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(964-969)gagcfs																																						SO:0001589	frameshift_variant	0				nervous system development	perinuclear region of cytoplasm	zinc ion binding	g.chr10:105344609_105344610delGC																												ENST00000369780.4:c.966_967delGC	10.37:g.105344615_105344616delGC	ENSP00000358795:p.Arg323fs					NEURL_ENST00000369777.2_Frame_Shift_Del_p.ER305fs	p.ER322fs	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)	4	1375_1376	+			322			NHR 2.		Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Frame_Shift_Del	DEL	ENST00000369780.4	37	c.966_967delGC	CCDS7551.1																																																																																				0.752	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050170.1			2	4						2	4	---	---	---	---	-	105344610	GC	-	105344609	7	5	244	1	0	1	0	1	0	0	0	0	10345	962	34	0	980	0	NEURL	10	105344609	Frame_Shift_Del	DEL	GC	TCGA-EL-A3ZG-01A-11D-A23M-08		105344609	30190138	10	5276											
LPCAT3	10162	broad.mit.edu	37	chr12	7092661	7092661	+	Frame_Shift_Del	DEL	T	T	-													ggatgaggtaggtctccttgTagaaaaggtaatgccgataa							TCGA-EL-A3ZG-01A-11D-A23M-08	TCGA-EL-A3ZG-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7706fa4-0ec2-4c1f-b0c5-d4efff97cccc	593d2302-87c2-48e3-b9a1-54511d86c105	g.chr12:7092661delT	ENST00000261407.4	-	2	276	c.191delA	c.(190-192)tacfs	p.Y64fs	LPCAT3_ENST00000535021.1_5'Flank	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	64					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						GGTCTCCTTGTAGAAAAGGTA	0.418																																						ENST00000261407.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						c.(190-192)tcfs		lysophosphatidylcholine acyltransferase 3							165	167	166					12																	7092661		2203	4300	6503	SO:0001589	frameshift_variant	10162				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity	g.chr12:7092661delT	U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"O-acyltransferase (membrane bound) domain containing 5", "membrane bound O-acyltransferase domain containing 5"	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.191delA	12.37:g.7092661delT	ENSP00000261407:p.Tyr64fs					U47924.19_ENST00000564245.1_RNA	p.Y64fs	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN			2	276	-			64					B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Frame_Shift_Del	DEL	ENST00000261407.4	37	c.191delA	CCDS8572.1																																																																																				0.418	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768		7	164						7	164	---	---	---	---	-	7092661	T	-	7092661	7	5	244	1	0	1	0	1	0	0	0	0	8912	1638	57	0	1316	0	LPCAT3	12	7092661	Frame_Shift_Del	DEL	T	TCGA-EL-A3ZG-01A-11D-A23M-08		7092661	126759234	11	5277											
CNGB1	1258	broad.mit.edu	37	chr16	57993834	57993834	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagggaggaggtctgggccTgggagccgggctggggctct	22	9	2	0			TCGA-EL-A3ZG-01A-11D-A23M-08	TCGA-EL-A3ZG-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7706fa4-0ec2-4c1f-b0c5-d4efff97cccc	593d2302-87c2-48e3-b9a1-54511d86c105	g.chr16:57993834T>C	ENST00000251102.8	-	10	779	c.719A>G	c.(718-720)cAg>cGg	p.Q240R	CNGB1_ENST00000564448.1_Missense_Mutation_p.Q234R|CNGB1_ENST00000311183.4_Missense_Mutation_p.Q240R	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	240	Pro-rich.				cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GGTCTGGGCCTGGGAGCCGGG	0.701																																					Colon(156;1293 1853 16336 28962 38659)	ENST00000564448.1																			0				breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(700-702)cAg>cGg		cyclic nucleotide gated channel beta 1							16	21	19					16																	57993834		1982	4138	6120	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57993834T>C	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2151	protein-coding gene	gene with protein product	"glutamic acid-rich protein"	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.719A>G	16.37:g.57993834T>C	ENSP00000251102:p.Gln240Arg					CNGB1_ENST00000251102.8_Missense_Mutation_p.Q240R|CNGB1_ENST00000311183.4_Missense_Mutation_p.Q240R	p.Q234R			Q14028	CNGB1_HUMAN			10	761	-			240			Pro-rich.		H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.701A>G	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	T	5.223	0.226561	0.09916	.	.	ENSG00000070729	ENST00000251102;ENST00000311183	D;T	0.96940	-4.18;0.82	0.158	0.158	0.14942	.	.	.	.	.	D	0.91962	0.7454	L	0.42245	1.32	0.09310	N	1	B;B	0.25904	0.137;0.008	B;B	0.15484	0.013;0.003	D	0.84525	0.0630	8	0.54805	T	0.06	.	.	.	.	.	240;240	Q14028-3;Q14028	.;CNGB1_HUMAN	R	240	ENSP00000251102:Q240R;ENSP00000311670:Q240R	ENSP00000251102:Q240R	Q	-	2	0	CNGB1	56551335	0.136000	0.22515	0.003000	0.11579	0.020000	0.10135	0.285000	0.18883	0.175000	0.19841	0.172000	0.16884	CAG		0.701	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		3	22	0	0	0	1	0	3	22					C	57993834	T	C	57993834	3	2	244	1	0	0	0	0	1	0	0	0	3600	1580	55	3	3162	3	CNGB1	16	57993834	Missense_Mutation	SNP	T	TCGA-EL-A3ZG-01A-11D-A23M-08		57993834	32360919	12	5278											
KRTAP4-11	653240	broad.mit.edu	37	chr17	39274170	39274170	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcagctggggtggcagcagGtgggctggcagcacacagac	18	10	0	1			TCGA-EL-A3ZG-01A-11D-A23M-08	TCGA-EL-A3ZG-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7706fa4-0ec2-4c1f-b0c5-d4efff97cccc	593d2302-87c2-48e3-b9a1-54511d86c105	g.chr17:39274170G>T	ENST00000391413.2	-	1	436	c.398C>A	c.(397-399)aCc>aAc	p.T133N		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	133	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gtggcagcaggtgggctggca	0.672																																						ENST00000391413.2																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(397-399)aCc>aAc		keratin associated protein 4-11							7	13	11					17																	39274170		677	1579	2256	SO:0001583	missense	653240					keratin filament		g.chr17:39274170G>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"Keratin associated proteins"	18911	protein-coding gene	gene with protein product			"keratin associated protein 4-14"	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.398C>A	17.37:g.39274170G>T	ENSP00000375232:p.Thr133Asn						p.T133N	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	436	-		Breast(137;0.000496)	133			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.398C>A	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	16.39	3.108575	0.56291	.	.	ENSG00000212721	ENST00000391413	T	0.01464	4.86	4.58	1.2	0.21068	.	2.577010	0.03019	U	0.150524	T	0.05135	0.0137	M	0.93062	3.375	0.09310	N	1	B	0.33413	0.411	B	0.32022	0.139	T	0.48692	-0.9013	10	0.48119	T	0.1	.	2.0576	0.03585	0.1147:0.2125:0.4176:0.2553	.	133	Q9BYQ6	KR411_HUMAN	N	133	ENSP00000375232:T133N	ENSP00000375232:T133N	T	-	2	0	KRTAP4-11	36527696	0.000000	0.05858	0.916000	0.36221	0.959000	0.62525	-4.569000	0.00214	0.919000	0.36945	0.514000	0.50259	ACC		0.672	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			6	39	1	0	7.48243e-07	1	7.83873e-07	6	39					T	39274170	G	T	39274170	3	4	244	1	0	0	0	0	1	0	0	0	8549	1261	44	4	193	4	KRTAP4-11	17	39274170	Missense_Mutation	SNP	G	TCGA-EL-A3ZG-01A-11D-A23M-08		39274170	41921040	13	5279											
FAM131C	348487	broad.mit.edu	37	chr1	16388993	16388993	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacacacaagtgcactgaCctgccaaggatcccaacaga	10	13	0	2			TCGA-EL-A3ZH-01A-31D-A23M-08	TCGA-EL-A3ZH-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc31e6b-07a9-4f0e-b3f3-9005473057fa	14208ab1-4d73-4805-9538-8f63d23152a3	g.chr1:16388993C>T	ENST00000375662.4	-	3	358		c.e3+1		FAM131C_ENST00000494078.1_Splice_Site	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C											large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		AGTGCACTGACCTGCCAAGGA	0.607																																						ENST00000375662.4																			0				large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.e3+1		family with sequence similarity 131, member C							19	21	20					1																	16388993		1904	4109	6013	SO:0001630	splice_region_variant	348487							g.chr1:16388993C>T		CCDS41270.1	1p36.13	2008-02-05	2007-03-20	2007-03-20	ENSG00000185519	ENSG00000185519			26717	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 117"	C1orf117		12477932	Standard	NM_182623		Approved	FLJ36766	uc001axz.4	Q96AQ9	OTTHUMG00000009525	ENST00000375662.4:c.174+1G>A	1.37:g.16388993C>T						FAM131C_ENST00000494078.1_Splice_Site		NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)	3	358	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)						Q5T5Q5|Q8N3X3|Q8N9P9	Splice_Site	SNP	ENST00000375662.4	37		CCDS41270.1	.	.	.	.	.	.	.	.	.	.	.	16.72	3.201980	0.58234	.	.	ENSG00000185519	ENST00000375662	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4058	0.60913	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM131C	16261580	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	2.444000	0.44890	2.239000	0.73571	0.561000	0.74099	.		0.607	FAM131C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026319.1	NM_182623	Intron	3	5	0	0	0	1	0	3	5					T	16388993	C	T	16388993	5	4	245	1	0	0	0	0	0	0	1	0	5441	521	18	2	687	2	FAM131C	1	16388993	Splice_Site	SNP	C	TCGA-EL-A3ZH-01A-31D-A23M-08		16388993	232861628	1	5280											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290	byFrequency	TCGA-EL-A3ZH-01A-31D-A23M-08	TCGA-EL-A3ZH-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc31e6b-07a9-4f0e-b3f3-9005473057fa	14208ab1-4d73-4805-9538-8f63d23152a3	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		neuroblastoma RAS viral (v-ras) oncogene homolog							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		57	63	0	0	0	1	0	57	63					C	115256529	T	C	115256529	3	2	245	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-EL-A3ZH-01A-31D-A23M-08	98867536	115256529	133994092	2	5281											
TMEM79	84283	broad.mit.edu	37	chr1	156255560	156255560	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgaggcagtggtgaggccGcctggctgttcctgtggggg	20	9	0	2	rs140033065	byFrequency	TCGA-EL-A3ZH-01A-31D-A23M-08	TCGA-EL-A3ZH-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc31e6b-07a9-4f0e-b3f3-9005473057fa	14208ab1-4d73-4805-9538-8f63d23152a3	g.chr1:156255560G>A	ENST00000405535.2	+	2	714	c.543G>A	c.(541-543)ccG>ccA	p.P181P	TMEM79_ENST00000495881.1_3'UTR|SMG5_ENST00000368267.5_5'Flank|SMG5_ENST00000361813.5_5'Flank|TMEM79_ENST00000295694.5_Silent_p.P181P|TMEM79_ENST00000357501.2_Intron	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	181					cornification (GO:0070268)|cuticle development (GO:0042335)|epithelial cell maturation (GO:0002070)|establishment of skin barrier (GO:0061436)|hair follicle morphogenesis (GO:0031069)|positive regulation of epidermis development (GO:0045684)|regulated secretory pathway (GO:0045055)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					TGGTGAGGCCGCCTGGCTGTT	0.682													G|||	5	0.000998403	0	0	5008	,	,		12551	0		0.004	False		,,,				2504	0.001					ENST00000405535.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21						c.(541-543)ccG>ccA		transmembrane protein 79		G		5,4395		0,5,2195	39	45	43		543	-11.3	0.0	1	dbSNP_134	43	29,8569		1,27,4271	no	coding-synonymous	TMEM79	NM_032323.2		1,32,6466	AA,AG,GG		0.3373,0.1136,0.2616		181/395	156255560	34,12964	2200	4299	6499	SO:0001819	synonymous_variant	84283					integral to membrane		g.chr1:156255560G>A	BC005094	CCDS1138.1	1q22	2014-04-22			ENSG00000163472	ENSG00000163472			28196	protein-coding gene	gene with protein product	"mattrin"	615531					Standard	NM_032323		Approved	MGC13102, FLJ16057, FLJ32254, MATT	uc009wrw.3	Q9BSE2	OTTHUMG00000019788	ENST00000405535.2:c.543G>A	1.37:g.156255560G>A						TMEM79_ENST00000357501.2_Intron|TMEM79_ENST00000295694.5_Silent_p.P181P|TMEM79_ENST00000495881.1_3'UTR	p.P181P	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN			2	714	+	Hepatocellular(266;0.158)		181					B2RE22|D3DVB8	Silent	SNP	ENST00000405535.2	37	c.543G>A	CCDS1138.1																																																																																				0.682	TMEM79-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052101.1	NM_032323		8	76	0	0	0	1	0	8	76					A	156255560	G	A	156255560	2	1	245	1	0	0	0	0	0	0	0	1	16200	1074	38	1		1	TMEM79	1	156255560	Silent	SNP	G	TCGA-EL-A3ZH-01A-31D-A23M-08	40999031	156255560	92995061	3	5282											
TYW1B	441250	broad.mit.edu	37	chr7	72093914	72093914	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttccccagggacacgagctgCgcgtaggcctggagctcgtc	14	14	0	0	rs374211694		TCGA-EL-A3ZH-01A-31D-A23M-08	TCGA-EL-A3ZH-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc31e6b-07a9-4f0e-b3f3-9005473057fa	14208ab1-4d73-4805-9538-8f63d23152a3	g.chr7:72093914C>A	ENST00000435769.2	-	0	1698				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000343721.5_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										ACACGAGCTGCGCGTAGGCCT	0.527													C|||	1	0.000199681	0	0	5008	,	,		17625	0		0	False		,,,				2504	0.001					ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							62	67	65					7																	72093914		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72093914C>A	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"radical S-adenosyl methionine and flavodoxin domains 1", "non-protein coding RNA 69", "long intergenic non-protein coding RNA 69"		"tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72093914C>A										Q6NUM6	TYW1B_HUMAN			0	1188	-								A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.527	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		3	19	1	0	1	1	1	3	19					A	72093914	C	A	72093914	1	1	245	0	1	0	0	0	0	0	0	0	16816	755	27	4		4	TYW1B	7	72093914	RNA	SNP	C	TCGA-EL-A3ZH-01A-31D-A23M-08		72093914	87044749	4	5283											
CCDC136	64753	broad.mit.edu	37	chr7	128445518	128445518	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttagagcctgatcctgaaatGcagttgttacggcagcagct	11	9	0	3			TCGA-EL-A3ZH-01A-31D-A23M-08	TCGA-EL-A3ZH-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc31e6b-07a9-4f0e-b3f3-9005473057fa	14208ab1-4d73-4805-9538-8f63d23152a3	g.chr7:128445518G>T	ENST00000297788.4	+	6	1255	c.888G>T	c.(886-888)atG>atT	p.M296I	CCDC136_ENST00000464832.1_Missense_Mutation_p.M346I|CCDC136_ENST00000487361.1_Missense_Mutation_p.M296I|CCDC136_ENST00000378685.4_Missense_Mutation_p.M334I	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	296	Glu-rich.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						ATCCTGAAATGCAGTTGTTAC	0.502																																						ENST00000297788.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						c.(886-888)atG>atT		coiled-coil domain containing 136							129	129	129					7																	128445518		2006	4180	6186	SO:0001583	missense	64753					integral to membrane	protein binding	g.chr7:128445518G>T		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.888G>T	7.37:g.128445518G>T	ENSP00000297788:p.Met296Ile					CCDC136_ENST00000487361.1_Missense_Mutation_p.M296I|CCDC136_ENST00000378685.4_Missense_Mutation_p.M334I|CCDC136_ENST00000464832.1_Missense_Mutation_p.M346I	p.M296I	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN			6	1255	+			296			Glu-rich.		A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	ENST00000297788.4	37	c.888G>T	CCDS47704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.863|7.863	0.726402|0.726402	0.15439|0.15439	.|.	.|.	ENSG00000128596|ENSG00000128596	ENST00000494552|ENST00000378685;ENST00000464832;ENST00000487361;ENST00000297788;ENST00000397697;ENST00000320524	.|T;T;T;T	.|0.74106	.|1.0;0.98;-0.81;1.55	5.65|5.65	-0.858|-0.858	0.10689|0.10689	.|.	.|0.660669	.|0.16047	.|N	.|0.232148	T|T	0.57607|0.57607	0.2065|0.2065	L|L	0.38531|0.38531	1.155|1.155	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.25904	.|0.012;0.137;0.009	.|B;B;B	.|0.21546	.|0.015;0.035;0.008	T|T	0.42068|0.42068	-0.9473|-0.9473	5|10	.|0.32370	.|T	.|0.25	-1.0407|-1.0407	6.7498|6.7498	0.23482|0.23482	0.0792:0.1419:0.5989:0.1801|0.0792:0.1419:0.5989:0.1801	.|.	.|296;296;334	.|C9JE17;Q96JN2;Q96JN2-3	.|.;CC136_HUMAN;.	F|I	173|334;346;296;296;296;296	.|ENSP00000367956:M334I;ENSP00000419515:M346I;ENSP00000420509:M296I;ENSP00000297788:M296I	.|ENSP00000297788:M296I	C|M	+|+	2|3	0|0	CCDC136|CCDC136	128232754|128232754	0.000000|0.000000	0.05858|0.05858	0.016000|0.016000	0.15963|0.15963	0.684000|0.684000	0.39900|0.39900	-0.168000|-0.168000	0.09925|0.09925	-0.140000|-0.140000	0.11394|0.11394	0.655000|0.655000	0.94253|0.94253	TGC|ATG		0.502	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		38	66	1	0	1.90571e-15	1	2.00601e-15	38	66					T	128445518	G	T	128445518	3	4	245	1	0	0	0	0	1	0	0	0	2770	1319	46	4	910	4	CCDC136	7	128445518	Missense_Mutation	SNP	G	TCGA-EL-A3ZH-01A-31D-A23M-08	56351604	128445518	30693145	5	5284											
TOPORS	10210	broad.mit.edu	37	chr9	32541435	32541435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactgacattaatgatgtccGtggcgatggcaattgccttg	11	8	0	2			TCGA-EL-A3ZH-01A-31D-A23M-08	TCGA-EL-A3ZH-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc31e6b-07a9-4f0e-b3f3-9005473057fa	14208ab1-4d73-4805-9538-8f63d23152a3	g.chr9:32541435G>A	ENST00000360538.2	-	3	3204	c.3088C>T	c.(3088-3090)Cgg>Tgg	p.R1030W	TOPORS_ENST00000379858.1_Missense_Mutation_p.R965W	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	1030					cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		AATGATGTCCGTGGCGATGGC	0.393																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(3088-3090)Cgg>Tgg		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							100	96	98					9																	32541435		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32541435G>A	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"RING-type (C3HC4) zinc fingers"	21653	protein-coding gene	gene with protein product		609507	"retinitis pigmentosa 31 (autosomal dominant)", "topoisomerase I binding, arginine/serine-rich"	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.3088C>T	9.37:g.32541435G>A	ENSP00000353735:p.Arg1030Trp					TOPORS_ENST00000379858.1_Missense_Mutation_p.R965W	p.R1030W	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	3204	-			1030					O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.3088C>T	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116162	0.56505	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.19105	2.17;2.19	4.72	1.55	0.23275	.	0.000000	0.38897	N	0.001523	T	0.23611	0.0571	N	0.19112	0.55	0.29347	N	0.865591	D	0.89917	1.0	D	0.69654	0.965	T	0.03344	-1.1046	10	0.87932	D	0	-6.5977	5.7977	0.18396	0.0923:0.0:0.4041:0.5035	.	1030	Q9NS56	TOPRS_HUMAN	W	1030;965	ENSP00000353735:R1030W;ENSP00000369187:R965W	ENSP00000353735:R1030W	R	-	1	2	TOPORS	32531435	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.026000	0.30103	0.674000	0.31244	0.650000	0.86243	CGG		0.393	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		4	62	0	0	0	1	0	4	62					A	32541435	G	A	32541435	3	1	245	1	0	0	0	0	1	0	0	0	16367	1144	40	1	53	1	TOPORS	9	32541435	Missense_Mutation	SNP	G	TCGA-EL-A3ZH-01A-31D-A23M-08		32541435	108671996	6	5285											
CD5	921	broad.mit.edu	37	chr11	60885869	60885869	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacacctcagagctcaatcaTctgctacggacaactgggct	8	14	4	1	rs142251832		TCGA-EL-A3ZH-01A-31D-A23M-08	TCGA-EL-A3ZH-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc31e6b-07a9-4f0e-b3f3-9005473057fa	14208ab1-4d73-4805-9538-8f63d23152a3	g.chr11:60885869T>C	ENST00000347785.3	+	3	483	c.317T>C	c.(316-318)aTc>aCc	p.I106T		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	106	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		AGCTCAATCATCTGCTACGGA	0.562																																						ENST00000347785.3																			0				central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(316-318)aTc>aCc		CD5 molecule		T	THR/ILE	0,4406		0,0,2203	205	185	192		317	-3.7	0.0	11	dbSNP_134	192	3,8595	3.0+/-9.4	0,3,4296	no	missense	CD5	NM_014207.3	89	0,3,6499	CC,CT,TT		0.0349,0.0,0.0231	benign	106/496	60885869	3,13001	2203	4299	6502	SO:0001583	missense	921				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity	g.chr11:60885869T>C	X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"CD molecules"	1685	protein-coding gene	gene with protein product		153340	"CD5 antigen (p56-62)"	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.317T>C	11.37:g.60885869T>C	ENSP00000342681:p.Ile106Thr						p.I106T	NM_014207.3	NP_055022.2	P06127	CD5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)	3	483	+		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)	106			SRCR 1.		A0N0P4|A8K9I3	Missense_Mutation	SNP	ENST00000347785.3	37	c.317T>C	CCDS8000.1	.	.	.	.	.	.	.	.	.	.	T	2.549	-0.304490	0.05495	0.0	3.49E-4	ENSG00000110448	ENST00000347785;ENST00000544014	T;T	0.34275	1.37;1.37	3.85	-3.67	0.04476	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	2.223100	0.01902	N	0.039273	T	0.24547	0.0595	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.19386	-1.0307	10	0.20046	T	0.44	-0.5178	11.0793	0.48051	0.0:0.3933:0.0:0.6067	.	106	P06127	CD5_HUMAN	T	106	ENSP00000342681:I106T;ENSP00000440899:I106T	ENSP00000342681:I106T	I	+	2	0	CD5	60642445	0.007000	0.16637	0.001000	0.08648	0.002000	0.02628	-0.456000	0.06754	-1.218000	0.02601	-1.139000	0.01908	ATC		0.562	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396465.2	NM_014207		10	191	0	0	0	1	0	10	191					C	60885869	T	C	60885869	3	2	245	1	0	0	0	0	1	0	0	0	3021	1435	50	3	327	3	CD5	11	60885869	Missense_Mutation	SNP	T	TCGA-EL-A3ZH-01A-31D-A23M-08		60885869	74120647	7	5286											
TAF6L	10629	broad.mit.edu	37	chr11	62543326	62543326	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggctcatggcggagagcaCgggcctggagctgagcgatg	18	11	1	2	rs76769410	byFrequency	TCGA-EL-A3ZH-01A-31D-A23M-08	TCGA-EL-A3ZH-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc31e6b-07a9-4f0e-b3f3-9005473057fa	14208ab1-4d73-4805-9538-8f63d23152a3	g.chr11:62543326C>T	ENST00000294168.3	+	2	272	c.71C>T	c.(70-72)aCg>aTg	p.T24M	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	24					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						GCGGAGAGCACGGGCCTGGAG	0.637													C|||	13	0.00259585	0.0015	0.0014	5008	,	,		18124	0		0.008	False		,,,				2504	0.002					ENST00000294168.3																			0				endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						c.(70-72)aCg>aTg		TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa		C	MET/THR	9,4393	16.8+/-37.8	0,9,2192	69	68	68		71	3.9	1.0	11	dbSNP_131	68	78,8520	45.4+/-104.0	2,74,4223	yes	missense	TAF6L	NM_006473.3	81	2,83,6415	TT,TC,CC		0.9072,0.2045,0.6692	possibly-damaging	24/623	62543326	87,12913	2201	4299	6500	SO:0001583	missense	10629				chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity	g.chr11:62543326C>T	BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.71C>T	11.37:g.62543326C>T	ENSP00000294168:p.Thr24Met					TMEM223_ENST00000527073.1_Intron	p.T24M	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN			2	272	+			24					B2RAT0|Q96HA6	Missense_Mutation	SNP	ENST00000294168.3	37	c.71C>T	CCDS8035.1	7	0.003205128205128205	0	0.0	1	0.0027624309392265192	0	0.0	6	0.0079155672823219	C	12.19	1.864603	0.32977	0.002045	0.009072	ENSG00000162227	ENST00000294168;ENST00000526261;ENST00000529509	T;T;T	0.42131	0.98;0.98;0.98	4.78	3.86	0.44501	Histone-fold (2);TATA box binding protein associated factor (TAF) (2);	0.211038	0.39615	N	0.001303	T	0.15478	0.0373	N	0.11427	0.14	0.80722	D	1	B;B	0.22146	0.013;0.065	B;B	0.17098	0.006;0.017	T	0.04522	-1.0945	10	0.37606	T	0.19	1.1681	7.4374	0.27164	0.0:0.8078:0.0:0.1922	.	24;24	B4DVM4;Q9Y6J9	.;TAF6L_HUMAN	M	24	ENSP00000294168:T24M;ENSP00000435116:T24M;ENSP00000434662:T24M	ENSP00000294168:T24M	T	+	2	0	TAF6L	62299902	0.996000	0.38824	0.963000	0.40424	0.968000	0.65278	3.349000	0.52217	1.364000	0.46038	0.561000	0.74099	ACG		0.637	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395352.1	NM_006473		4	57	0	0	0	1	0	4	57					T	62543326	C	T	62543326	3	4	245	1	0	0	0	0	1	0	0	0	15528	536	19	1	73	1	TAF6L	11	62543326	Missense_Mutation	SNP	C	TCGA-EL-A3ZH-01A-31D-A23M-08	1657457	62543326	72463190	8	5287											
MLL	4297	broad.mit.edu	37	chr11	118362606	118362606	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agttctgacagctttgttgaAttctcggactaccagccatt	8	10	2	2			TCGA-EL-A3ZH-01A-31D-A23M-08	TCGA-EL-A3ZH-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc31e6b-07a9-4f0e-b3f3-9005473057fa	14208ab1-4d73-4805-9538-8f63d23152a3	g.chr11:118362606A>C	ENST00000389506.5	+	15	4958	c.4958A>C	c.(4957-4959)aAt>aCt	p.N1653T	KMT2A_ENST00000534358.1_Missense_Mutation_p.N1656T|KMT2A_ENST00000354520.4_Missense_Mutation_p.N1615T			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1653					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GCTTTGTTGAATTCTCGGACT	0.473																																						ENST00000534358.1																			0											c.(4966-4968)aAt>aCt		lysine (K)-specific methyltransferase 2A							52	51	51					11																	118362606		2200	4296	6496	SO:0001583	missense	4297							g.chr11:118362606A>C	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.4958A>C	11.37:g.118362606A>C	ENSP00000374157:p.Asn1653Thr					KMT2A_ENST00000389506.5_Missense_Mutation_p.N1653T|KMT2A_ENST00000354520.4_Missense_Mutation_p.N1615T	p.N1656T	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					15	4990	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.4967A>C	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	A	17.33	3.362840	0.61403	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313;ENST00000392873	D;D;D;D	0.90324	-1.61;-1.62;-1.55;-2.65	5.75	5.75	0.90469	Bromodomain (1);	0.000000	0.85682	D	0.000000	D	0.93077	0.7796	L	0.47716	1.5	0.80722	D	1	D;D	0.67145	0.972;0.996	P;D	0.65140	0.875;0.932	D	0.93666	0.6986	10	0.66056	D	0.02	.	16.0681	0.80903	1.0:0.0:0.0:0.0	.	1656;1653	E9PQG7;Q03164	.;MLL1_HUMAN	T	1656;1653;1615;563;365	ENSP00000436786:N1656T;ENSP00000374157:N1653T;ENSP00000346516:N1615T;ENSP00000376612:N365T	ENSP00000346516:N1615T	N	+	2	0	MLL	117867816	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.891000	0.69782	2.188000	0.69820	0.528000	0.53228	AAT		0.473	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		5	51	0	0	0	1	0	5	51					C	118362606	A	C	118362606	3	2	245	1	0	0	0	0	1	0	0	0	9620	101	4	5	5016	5	MLL	11	118362606	Missense_Mutation	SNP	A	TCGA-EL-A3ZH-01A-31D-A23M-08	55819280	118362606	16643910	9	5288											
EFCAB4B	84766	broad.mit.edu	37	chr12	3788151	3788151	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcctcatcttcgcccaTgtcgcccagatcctcatccc	6	19	3	1			TCGA-EL-A3ZH-01A-31D-A23M-08	TCGA-EL-A3ZH-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc31e6b-07a9-4f0e-b3f3-9005473057fa	14208ab1-4d73-4805-9538-8f63d23152a3	g.chr12:3788151T>C	ENST00000252322.1	-	6	922	c.454A>G	c.(454-456)Atg>Gtg	p.M152V	EFCAB4B_ENST00000440314.2_Missense_Mutation_p.M152V|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.M152V	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		152					activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TCTTCGCCCATGTCGCCCAGA	0.532																																						ENST00000440314.2																			0				breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(454-456)Atg>Gtg		EF-hand calcium binding domain 4B							206	166	179					12																	3788151		2203	4300	6503	SO:0001583	missense	84766				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding	g.chr12:3788151T>C																												ENST00000252322.1:c.454A>G	12.37:g.3788151T>C	ENSP00000252322:p.Met152Val					EFCAB4B_ENST00000444507.1_Missense_Mutation_p.M152V|EFCAB4B_ENST00000252322.1_Missense_Mutation_p.M152V	p.M152V	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)		6	927	-			152					B4E1X0|B9EK63	Missense_Mutation	SNP	ENST00000252322.1	37	c.454A>G	CCDS8522.1	.	.	.	.	.	.	.	.	.	.	T	0.707	-0.788760	0.02884	.	.	ENSG00000130038	ENST00000440314;ENST00000444507;ENST00000252322	T;T;T	0.59638	0.25;2.71;2.73	4.38	-3.17	0.05202	.	0.956485	0.08808	N	0.890749	T	0.37019	0.0988	L	0.39020	1.185	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.19353	-1.0308	10	0.26408	T	0.33	-3.7883	0.9736	0.01421	0.1506:0.174:0.309:0.3664	.	152;152;152	D7UEQ6;Q9BSW2-2;Q9BSW2	.;.;EFC4B_HUMAN	V	152	ENSP00000409382:M152V;ENSP00000412496:M152V;ENSP00000252322:M152V	ENSP00000252322:M152V	M	-	1	0	EFCAB4B	3658412	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.193000	0.09573	-0.824000	0.04295	0.459000	0.35465	ATG		0.532	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398673.1			48	74	0	0	0	1	0	48	74					C	3788151	T	C	3788151	3	2	245	1	0	0	0	0	1	0	0	0	4937	1464	51	3	1993	3	EFCAB4B	12	3788151	Missense_Mutation	SNP	T	TCGA-EL-A3ZH-01A-31D-A23M-08		3788151	130063744	10	5289											
ATXN2L	11273	broad.mit.edu	37	chr16	28846948	28846948	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acccaggggccctgacaggcAcgccgccctctctgccaccg	11	20	1	1			TCGA-EL-A3ZH-01A-31D-A23M-08	TCGA-EL-A3ZH-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc31e6b-07a9-4f0e-b3f3-9005473057fa	14208ab1-4d73-4805-9538-8f63d23152a3	g.chr16:28846948A>C	ENST00000336783.4	+	21	2931	c.2764A>C	c.(2764-2766)Acg>Ccg	p.T922P	ATXN2L_ENST00000395547.2_Missense_Mutation_p.T922P|ATXN2L_ENST00000340394.8_Missense_Mutation_p.T922P|ATXN2L_ENST00000325215.6_Missense_Mutation_p.T922P|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000564304.1_Missense_Mutation_p.T928P|ATXN2L_ENST00000570200.1_Missense_Mutation_p.T922P|ATXN2L_ENST00000382686.4_Missense_Mutation_p.T922P	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	922					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCTGACAGGCACGCCGCCCTC	0.672																																						ENST00000336783.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(2764-2766)Acg>Ccg		ataxin 2-like							39	39	39					16																	28846948		2197	4299	6496	SO:0001583	missense	11273					membrane		g.chr16:28846948A>C		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.2764A>C	16.37:g.28846948A>C	ENSP00000338718:p.Thr922Pro					ATXN2L_ENST00000340394.8_Missense_Mutation_p.T922P|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000564304.1_Missense_Mutation_p.T928P|ATXN2L_ENST00000570200.1_Missense_Mutation_p.T922P|ATXN2L_ENST00000395547.2_Missense_Mutation_p.T922P|ATXN2L_ENST00000325215.6_Missense_Mutation_p.T922P|ATXN2L_ENST00000382686.4_Missense_Mutation_p.T922P	p.T922P	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN			21	2931	+			922					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	ENST00000336783.4	37	c.2764A>C	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	18.14	3.557872	0.65425	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	T;T;T;T;T	0.70986	-0.41;-0.53;-0.48;-0.43;-0.45	5.82	5.82	0.92795	.	0.070599	0.64402	D	0.000020	T	0.77177	0.4092	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D;D	0.76494	0.998;0.998;0.999;0.999;0.998;0.999	D;D;D;D;D;D	0.80764	0.987;0.987;0.994;0.994;0.987;0.994	T	0.75510	-0.3292	10	0.33940	T	0.23	-10.331	15.1603	0.72778	1.0:0.0:0.0:0.0	.	922;922;922;922;922;922	Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;ATX2L_HUMAN;.;.;.;.	P	922	ENSP00000341459:T922P;ENSP00000378917:T922P;ENSP00000338718:T922P;ENSP00000372133:T922P;ENSP00000315650:T922P	ENSP00000315650:T922P	T	+	1	0	ATXN2L	28754449	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.024000	0.76443	2.222000	0.72286	0.383000	0.25322	ACG		0.672	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		15	34	0	0	0	1	0	15	34					C	28846948	A	C	28846948	3	2	245	1	0	0	0	0	1	0	0	0	1212	159	6	5	2846	5	ATXN2L	16	28846948	Missense_Mutation	SNP	A	TCGA-EL-A3ZH-01A-31D-A23M-08		28846948	61507805	11	5290											
ACSS2	55902	broad.mit.edu	37	chr20	33501967	33501967	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acgaggccctgcagaagtgtCaggagaagtaagtgtgtttg	15	6	1	2			TCGA-EL-A3ZH-01A-31D-A23M-08	TCGA-EL-A3ZH-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc31e6b-07a9-4f0e-b3f3-9005473057fa	14208ab1-4d73-4805-9538-8f63d23152a3	g.chr20:33501967C>T	ENST00000360596.2	+	6	923	c.712C>T	c.(712-714)Cag>Tag	p.Q238*	ACSS2_ENST00000336325.4_Nonsense_Mutation_p.Q188*|ACSS2_ENST00000253382.5_Nonsense_Mutation_p.Q238*|ACSS2_ENST00000476922.1_Intron	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	238					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCAGAAGTGTCAGGAGAAGTA	0.537																																						ENST00000360596.2																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21						c.(712-714)Cag>Tag		acyl-CoA synthetase short-chain family member 2	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						97	102	100					20																	33501967		2203	4300	6503	SO:0001587	stop_gained	55902				ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding	g.chr20:33501967C>T	AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"Acyl-CoA synthetase family"	15814	protein-coding gene	gene with protein product		605832	"acetyl-Coenzyme A synthetase 2 (ADP forming)"	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.712C>T	20.37:g.33501967C>T	ENSP00000353804:p.Gln238*					ACSS2_ENST00000253382.5_Nonsense_Mutation_p.Q238*|ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Nonsense_Mutation_p.Q188*	p.Q238*	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN			6	923	+			238					A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Nonsense_Mutation	SNP	ENST00000360596.2	37	c.712C>T	CCDS13243.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953305	0.92660	.	.	ENSG00000131069	ENST00000336325;ENST00000360596;ENST00000374693;ENST00000253382	.	.	.	5.24	5.24	0.73138	.	0.424663	0.26808	N	0.022386	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-16.1784	8.8531	0.35212	0.2073:0.6595:0.1332:0.0	.	.	.	.	X	188;238;238;238	.	ENSP00000253382:Q238X	Q	+	1	0	ACSS2	32965628	1.000000	0.71417	0.990000	0.47175	0.979000	0.70002	2.841000	0.48223	2.729000	0.93468	0.655000	0.94253	CAG		0.537	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078823.3	NM_018677		3	31	0	0	0	1	0	3	31					T	33501967	C	T	33501967	4	4	245	1	0	0	0	0	0	1	0	0	189	827	29	2	734	2	ACSS2	20	33501967	Nonsense_Mutation	SNP	C	TCGA-EL-A3ZH-01A-31D-A23M-08		33501967	29523553	12	5291											
MED15	51586	broad.mit.edu	37	chr22	20909296	20909296	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggaattggcatgcctcctcgGggcccgggacagtctctggg	16	12	1	0			TCGA-EL-A3ZH-01A-31D-A23M-08	TCGA-EL-A3ZH-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc31e6b-07a9-4f0e-b3f3-9005473057fa	14208ab1-4d73-4805-9538-8f63d23152a3	g.chr22:20909296G>C	ENST00000263205.7	+	5	381	c.312G>C	c.(310-312)cgG>cgC	p.R104R	MED15_ENST00000542773.1_Intron|MED15_ENST00000425759.2_Intron|MED15_ENST00000541476.1_Silent_p.R78R|MED15_ENST00000406969.1_Silent_p.R78R|MED15_ENST00000292733.7_Silent_p.R104R|MED15_ENST00000382974.2_Intron	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	104					gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			TGCCTCCTCGGGGCCCGGGAC	0.647																																						ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(310-312)cgG>cgC		mediator complex subunit 15							40	43	42					22																	20909296		2203	4300	6503	SO:0001819	synonymous_variant	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20909296G>C	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"trinucleotide repeat containing 7", "PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.312G>C	22.37:g.20909296G>C						MED15_ENST00000425759.2_Intron|MED15_ENST00000542773.1_Intron|MED15_ENST00000292733.7_Silent_p.R104R|MED15_ENST00000382974.2_Intron|MED15_ENST00000541476.1_Silent_p.R78R|MED15_ENST00000406969.1_Silent_p.R78R	p.R104R	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		5	381	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	104					D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Silent	SNP	ENST00000263205.7	37	c.312G>C	CCDS33602.1																																																																																				0.647	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		5	50	0	0	0	1	0	5	50					C	20909296	G	C	20909296	2	2	245	1	0	0	0	0	0	0	0	1	9433	1219	43	4		4	MED15	22	20909296	Silent	SNP	G	TCGA-EL-A3ZH-01A-31D-A23M-08		20909296	30395270	13	5292											
BRCC3	79184	broad.mit.edu	37	chrX	154305462	154305462	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taggttgatgccgtcagaatTgttcacattcattctgtcat	8	8	5	2			TCGA-EL-A3ZH-01A-31D-A23M-08	TCGA-EL-A3ZH-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc31e6b-07a9-4f0e-b3f3-9005473057fa	14208ab1-4d73-4805-9538-8f63d23152a3	g.chrX:154305462T>A	ENST00000369462.1	+	4	238	c.213T>A	c.(211-213)atT>atA	p.I71I	BRCC3_ENST00000369459.2_Silent_p.I71I|BRCC3_ENST00000330045.7_Silent_p.I71I|MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000340647.4_Silent_p.I72I|BRCC3_ENST00000399042.1_Silent_p.I71I	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	71	MPN.				double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|positive regulation of DNA repair (GO:0045739)|protein K63-linked deubiquitination (GO:0070536)|regulation of catalytic activity (GO:0050790)|response to ionizing radiation (GO:0010212)|response to X-ray (GO:0010165)	BRCA1-A complex (GO:0070531)|BRISC complex (GO:0070552)|nuclear ubiquitin ligase complex (GO:0000152)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	enzyme regulator activity (GO:0030234)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|polyubiquitin binding (GO:0031593)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCGTCAGAATTGTTCACATTC	0.413																																						ENST00000369462.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22						c.(211-213)atT>atA		BRCA1/BRCA2-containing complex, subunit 3							109	94	98					X																	154305462		1885	4100	5985	SO:0001819	synonymous_variant	79184				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:154305462T>A	X64643	CCDS56610.1, CCDS56611.1, CCDS56612.1	Xq28	2013-05-29	2005-11-21	2005-11-21	ENSG00000185515	ENSG00000185515			24185	protein-coding gene	gene with protein product	"Lys-63-specific deubiquitinase"	300617	"chromosome X open reading frame 53"	CXorf53		1303175, 14636569	Standard	NM_024332		Approved	C6.1A, BRCC36	uc004fna.3	P46736	OTTHUMG00000022658	ENST00000369462.1:c.213T>A	X.37:g.154305462T>A						BRCC3_ENST00000330045.7_Silent_p.I71I|MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000399042.1_Silent_p.I71I|BRCC3_ENST00000369459.2_Silent_p.I71I|BRCC3_ENST00000340647.4_Silent_p.I72I	p.I71I	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN			4	238	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		71					A6QRF8|A6QRF9|A8MUX5|A8MWH0|A9Z1Y0|A9Z1Y5|B1B062|B4DQN7|Q16107|Q53YX5|Q9BTZ6	Silent	SNP	ENST00000369462.1	37	c.213T>A	CCDS56611.1																																																																																				0.413	BRCC3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058788.4	NM_024332		20	30	0	0	0	1	0	20	30					A	154305462	T	A	154305462	2	1	245	1	0	0	0	0	0	0	0	1	1500	1800	63	5		5	BRCC3	23	154305462	Silent	SNP	T	TCGA-EL-A3ZH-01A-31D-A23M-08		154305462	965098	14	5293											
ADRA2B	151	broad.mit.edu	37	chr2	96781258	96781258	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccctgcccaggcccccCcttggccctgggacctctgc	9	22	2	0			TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chr2:96781258C>A	ENST00000409345.3	-	1	726	c.631G>T	c.(631-633)Ggg>Tgg	p.G211W		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	211			G -> A (in dbSNP:rs9333568). {ECO:0000269|Ref.6}.		activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CCAGGCCCCCCCTTGGCCCTG	0.622																																						ENST00000409345.3																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16						c.(631-633)Ggg>Tgg		adrenoceptor alpha 2B	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						31	35	34					2																	96781258		2038	4174	6212	SO:0001583	missense	151				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding	g.chr2:96781258C>A	M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"GPCR / Class A : Adrenoceptors : alpha"	282	protein-coding gene	gene with protein product		104260	"adrenergic, alpha-2B-, receptor"	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.631G>T	2.37:g.96781258C>A	ENSP00000387281:p.Gly211Trp						p.G211W	NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN			1	726	-			211		G -> A (in dbSNP:rs9333568).			Q4TUH9|Q53RF2|Q9BZK0	Missense_Mutation	SNP	ENST00000409345.3	37	c.631G>T	CCDS56129.1	.	.	.	.	.	.	.	.	.	.	C	5.157	0.214555	0.09810	.	.	ENSG00000222040	ENST00000409345	T	0.72725	-0.68	4.97	-1.15	0.09709	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.71804	0.3383	M	0.91249	3.19	0.09310	N	1	B	0.13145	0.007	B	0.20577	0.03	T	0.66878	-0.5812	9	0.72032	D	0.01	.	4.5321	0.12010	0.0:0.3194:0.3294:0.3511	.	211	P18089	ADA2B_HUMAN	W	211	ENSP00000387281:G211W	ENSP00000387281:G211W	G	-	1	0	ADRA2B	96144985	0.000000	0.05858	0.002000	0.10522	0.345000	0.29048	-0.014000	0.12656	-0.083000	0.12618	-1.808000	0.00615	GGG		0.622	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1			13	29	1	0	6.53275e-17	1	7.74252e-17	13	29					A	96781258	C	A	96781258	3	1	246	1	0	0	0	0	1	0	0	0	338	623	22	4	716	4	ADRA2B	2	96781258	Missense_Mutation	SNP	C	TCGA-EL-A3ZK-01A-21D-A23M-08		96781258	146418115	1	5294											
TGFBRAP1	9392	broad.mit.edu	37	chr2	105924122	105924122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtctccctatcctcttgaCgatcggcggcctctcctcac	7	18	4	1			TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chr2:105924122C>T	ENST00000393359.2	-	2	1063	c.637G>A	c.(637-639)Gtc>Atc	p.V213I	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.V213I			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	213	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						ATCCTCTTGACGATCGGCGGC	0.592																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	ENST00000393359.2																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(637-639)Gtc>Atc		transforming growth factor, beta receptor associated protein 1							96	108	103					2																	105924122		2203	4300	6503	SO:0001583	missense	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105924122C>T	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.637G>A	2.37:g.105924122C>T	ENSP00000377027:p.Val213Ile					TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.V213I	p.V213I			Q8WUH2	TGFA1_HUMAN			2	1063	-			213			CNH.		A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	c.637G>A	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	C	31	5.094654	0.94149	.	.	ENSG00000135966	ENST00000393359;ENST00000258449	T;T	0.05382	3.45;3.45	5.32	5.32	0.75619	Citron-like (2);	0.068722	0.64402	D	0.000016	T	0.08582	0.0213	L	0.33668	1.02	0.80722	D	1	P	0.48640	0.913	P	0.46076	0.503	T	0.43163	-0.9408	10	0.13470	T	0.59	-42.3827	19.1899	0.93660	0.0:1.0:0.0:0.0	.	213	Q8WUH2	TGFA1_HUMAN	I	213	ENSP00000377027:V213I;ENSP00000258449:V213I	ENSP00000258449:V213I	V	-	1	0	TGFBRAP1	105290554	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.907000	0.69908	2.760000	0.94817	0.655000	0.94253	GTC		0.592	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		13	161	0	0	0	1	0	13	161					T	105924122	C	T	105924122	3	4	246	1	0	0	0	0	1	0	0	0	15821	536	19	1	1989	1	TGFBRAP1	2	105924122	Missense_Mutation	SNP	C	TCGA-EL-A3ZK-01A-21D-A23M-08	9142864	105924122	137275251	2	5295											
PCDHB16	57717	broad.mit.edu	37	chr5	140563687	140563687	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccacctgttcgccctcaggtCgctggactacgaggccctgc	11	17	1	0			TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chr5:140563687C>T	ENST00000361016.2	+	1	2708	c.1553C>T	c.(1552-1554)tCg>tTg	p.S518L		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	518	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)			GCCCTCAGGTCGCTGGACTAC	0.697																																						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.(1552-1554)tCg>tTg									35	35	35					5																	140563687		2097	4081	6178	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140563687C>T	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.1553C>T	5.37:g.140563687C>T	ENSP00000354293:p.Ser518Leu						p.S518L	NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2708	+			518			Cadherin 5.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.1553C>T	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	c	19.52	3.843151	0.71488	.	.	ENSG00000196963	ENST00000361016	T	0.01821	4.62	4.26	4.26	0.50523	Cadherin (5);Cadherin-like (1);	0.285247	0.18718	N	0.133117	T	0.09335	0.0230	M	0.77486	2.375	0.36564	D	0.872595	D	0.59767	0.986	P	0.60236	0.871	T	0.09618	-1.0666	10	0.87932	D	0	.	16.3541	0.83228	0.0:1.0:0.0:0.0	.	518	Q9NRJ7	PCDBG_HUMAN	L	518	ENSP00000354293:S518L	ENSP00000354293:S518L	S	+	2	0	PCDHB16	140543871	0.936000	0.31750	0.187000	0.23214	0.089000	0.18198	7.619000	0.83057	1.931000	0.55961	0.580000	0.79431	TCG		0.697	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		4	33	0	0	0	1	0	4	33					T	140563687	C	T	140563687	3	4	246	1	0	0	0	0	1	0	0	0	11541	893	31	1	1555	1	PCDHB16	5	140563687	Missense_Mutation	SNP	C	TCGA-EL-A3ZK-01A-21D-A23M-08		140563687	40351573	3	5296											
DNAJB9	4189	broad.mit.edu	37	chr7	108213643	108213643	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatgacatgtttgaagataTggagaaaatgttttctttta	9	2	1	5			TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chr7:108213643T>C	ENST00000249356.3	+	3	1064	c.518T>C	c.(517-519)aTg>aCg	p.M173T	DNAJB9_ENST00000465725.1_Intron	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	173					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	misfolded protein binding (GO:0051787)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						TTTGAAGATATGGAGAAAATG	0.393																																						ENST00000249356.3																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						c.(517-519)aTg>aCg		DnaJ (Hsp40) homolog, subfamily B, member 9							145	144	144					7																	108213643		2203	4300	6503	SO:0001583	missense	4189				ER-associated protein catabolic process|protein folding	endoplasmic reticulum|nucleolus	heat shock protein binding|misfolded protein binding|unfolded protein binding	g.chr7:108213643T>C	AB026908	CCDS5752.1	7q31	2011-09-02			ENSG00000128590	ENSG00000128590		"Heat shock proteins / DNAJ (HSP40)"	6968	protein-coding gene	gene with protein product		602634		MDG1		9533036, 11147971	Standard	NM_012328		Approved		uc003vfn.3	Q9UBS3	OTTHUMG00000154866	ENST00000249356.3:c.518T>C	7.37:g.108213643T>C	ENSP00000249356:p.Met173Thr					DNAJB9_ENST00000465725.1_Intron	p.M173T	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN			3	1064	+			173						Missense_Mutation	SNP	ENST00000249356.3	37	c.518T>C	CCDS5752.1	.	.	.	.	.	.	.	.	.	.	T	13.63	2.295580	0.40594	.	.	ENSG00000128590	ENST00000249356	T	0.60548	0.18	5.86	5.86	0.93980	.	0.086852	0.85682	D	0.000000	T	0.53334	0.1790	M	0.67953	2.075	0.80722	D	1	P	0.38978	0.652	B	0.30855	0.121	T	0.56269	-0.8007	9	.	.	.	.	15.448	0.75248	0.0:0.0:0.0:1.0	.	173	Q9UBS3	DNJB9_HUMAN	T	173	ENSP00000249356:M173T	.	M	+	2	0	DNAJB9	108000879	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.477000	0.81069	2.240000	0.73641	0.533000	0.62120	ATG		0.393	DNAJB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337414.1			52	93	0	0	0	1	0	52	93					C	108213643	T	C	108213643	3	2	246	1	0	0	0	0	1	0	0	0	4627	1464	51	3	524	3	DNAJB9	7	108213643	Missense_Mutation	SNP	T	TCGA-EL-A3ZK-01A-21D-A23M-08		108213643	50925020	4	5297											
RNF148	378925	broad.mit.edu	37	chr7	122342453	122342453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcccttctctgctgccaCgttgattttatgtgtaaaag	8	10	1	1	rs189837730	byFrequency	TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chr7:122342453C>T	ENST00000434824.1	-	1	568	c.352G>A	c.(352-354)Gtg>Atg	p.V118M	CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron|RNF148_ENST00000447240.1_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	118	PA.					integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						TCTGCTGCCACGTTGATTTTA	0.483													C|||	3	0.000599042	0	0	5008	,	,		20581	0.003		0	False		,,,				2504	0					ENST00000434824.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						c.(352-354)Gtg>Atg		ring finger protein 148							221	219	220					7																	122342453		2035	4183	6218	SO:0001583	missense	378925					integral to membrane	zinc ion binding	g.chr7:122342453C>T	BC029264	CCDS47692.1	7q31.33	2013-01-09			ENSG00000235631	ENSG00000235631		"RING-type (C3HC4) zinc fingers"	22411	protein-coding gene	gene with protein product						8744354	Standard	NM_198085		Approved	MGC35222	uc003vkk.1	Q8N7C7	OTTHUMG00000157099	ENST00000434824.1:c.352G>A	7.37:g.122342453C>T	ENSP00000388207:p.Val118Met					CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron|RNF148_ENST00000447240.1_Intron|CADPS2_ENST00000449022.2_Intron	p.V118M	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN			1	568	-			118			PA.		A4D0X4|Q8N308	Missense_Mutation	SNP	ENST00000434824.1	37	c.352G>A	CCDS47692.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	9.699	1.153993	0.21371	.	.	ENSG00000235631	ENST00000434824	T	0.08896	3.04	4.95	3.1	0.35709	Protease-associated domain, PA (1);	.	.	.	.	T	0.06508	0.0167	L	0.55834	1.745	0.80722	D	1	B	0.17038	0.02	B	0.24541	0.054	T	0.12243	-1.0555	9	0.30078	T	0.28	.	9.2719	0.37677	0.2638:0.4795:0.2567:0.0	.	118	Q8N7C7	RN148_HUMAN	M	118	ENSP00000388207:V118M	ENSP00000388207:V118M	V	-	1	0	RNF148	122129689	0.092000	0.21681	0.988000	0.46212	0.998000	0.95712	0.602000	0.24134	0.567000	0.29293	0.555000	0.69702	GTG		0.483	RNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347424.1	NM_198085		31	271	0	0	0	1	0	31	271					T	122342453	C	T	122342453	3	4	246	1	0	0	0	0	1	0	0	0	13449	536	19	1	569	1	RNF148	7	122342453	Missense_Mutation	SNP	C	TCGA-EL-A3ZK-01A-21D-A23M-08	14128810	122342453	36796210	5	5298											
ADAMTS8	11095	broad.mit.edu	37	chr11	130289047	130289047	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagaagttacgcagtgtaagCcccccattgtcggacacctc	9	14	0	1			TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chr11:130289047C>A	ENST00000257359.6	-	2	1567	c.861G>T	c.(859-861)ggG>ggT	p.G287G		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	287	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)		GCAGTGTAAGCCCCCCATTGT	0.557																																						ENST00000257359.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(859-861)ggG>ggT		ADAM metallopeptidase with thrombospondin type 1 motif, 8							153	163	160					11																	130289047		2006	4176	6182	SO:0001819	synonymous_variant	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.chr11:130289047C>A	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.861G>T	11.37:g.130289047C>A							p.G287G	NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	2	1567	-	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)	287			Peptidase M12B.		Q9NZS0	Silent	SNP	ENST00000257359.6	37	c.861G>T	CCDS41732.1																																																																																				0.557	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		80	184	1	0	3.00245e-22	1	3.69532e-22	80	184					A	130289047	C	A	130289047	2	1	246	1	0	0	0	0	0	0	0	1	272	726	26	4		4	ADAMTS8	11	130289047	Silent	SNP	C	TCGA-EL-A3ZK-01A-21D-A23M-08		130289047	4717469	6	5299											
BICD1	636	broad.mit.edu	37	chr12	32480404	32480404	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgccattgcaggtagagcggGaaaaggccattcttttggcc	13	9	1	1			TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chr12:32480404G>A	ENST00000281474.5	+	5	1118	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	BICD1_ENST00000548411.1_Missense_Mutation_p.E339K	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	339					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GGTAGAGCGGGAAAAGGCCAT	0.507																																						ENST00000548411.1																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1015-1017)Gaa>Aaa		bicaudal D homolog 1 (Drosophila)							83	82	82					12																	32480404		2203	4300	6503	SO:0001583	missense	636				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	g.chr12:32480404G>A	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"Bicaudal D (Drosophila) homolog 1"			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.1015G>A	12.37:g.32480404G>A	ENSP00000281474:p.Glu339Lys					BICD1_ENST00000281474.5_Missense_Mutation_p.E339K	p.E339K	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		5	1196	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		339					A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	c.1015G>A	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902452	0.92035	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.61392	0.11;0.11	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.78039	0.4221	M	0.79693	2.465	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.83275	0.994;0.996	T	0.77792	-0.2455	10	0.41790	T	0.15	.	19.1424	0.93450	0.0:0.0:1.0:0.0	.	339;339	F8W113;Q96G01	.;BICD1_HUMAN	K	339	ENSP00000446793:E339K;ENSP00000281474:E339K	ENSP00000281474:E339K	E	+	1	0	BICD1	32371671	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.556000	0.98127	2.597000	0.87782	0.655000	0.94253	GAA		0.507	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		31	84	0	0	0	1	0	31	84					A	32480404	G	A	32480404	3	1	246	1	0	0	0	0	1	0	0	0	1428	1175	41	2	1033	2	BICD1	12	32480404	Missense_Mutation	SNP	G	TCGA-EL-A3ZK-01A-21D-A23M-08		32480404	101371491	7	5300											
POTEG	404785	broad.mit.edu	37	chr14	19553709	19553709	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagacactcaggagcaagaTgggcaagtggtgctgccact	14	9	1	2			TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chr14:19553709T>G	ENST00000409832.3	+	1	345	c.293T>G	c.(292-294)aTg>aGg	p.M98R		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	98										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGGAGCAAGATGGGCAAGTGG	0.622																																						ENST00000409832.3																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(292-294)aTg>aGg		POTE ankyrin domain family, member G							64	77	73					14																	19553709		1567	3282	4849	SO:0001583	missense	404785							g.chr14:19553709T>G		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33896	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 4"	608916	"ANKRD26-like family C, member 2"	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.293T>G	14.37:g.19553709T>G	ENSP00000386971:p.Met98Arg						p.M98R	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN			1	345	+			98					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.293T>G	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	t	7.546	0.661761	0.14645	.	.	ENSG00000222036	ENST00000409832	T	0.26810	1.71	0.535	-1.07	0.09968	.	.	.	.	.	T	0.21227	0.0511	L	0.58101	1.795	0.09310	N	1	P	0.45634	0.863	B	0.40565	0.333	T	0.11012	-1.0605	8	0.66056	D	0.02	.	.	.	.	.	98	Q6S5H5	POTEG_HUMAN	R	98	ENSP00000386971:M98R	ENSP00000386971:M98R	M	+	2	0	POTEG	18623709	0.052000	0.20516	0.037000	0.18230	0.013000	0.08279	0.399000	0.20916	-0.806000	0.04398	-1.006000	0.02489	ATG		0.622	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		43	395	0	0	0	1	0	43	395					G	19553709	T	G	19553709	3	3	246	1	0	0	0	0	1	0	0	0	12266	1464	51	5	295	5	POTEG	14	19553709	Missense_Mutation	SNP	T	TCGA-EL-A3ZK-01A-21D-A23M-08		19553709	87795831	8	5301											
TMEM146	257062	broad.mit.edu	37	chr19	5749174	5749174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attatggcaatctgggcatcGtgccaagttccataatcaaa	8	9	2	0			TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chr19:5749174G>A	ENST00000381624.3	+	11	1028	c.967G>A	c.(967-969)Gtg>Atg	p.V323M	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	323					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											TCTGGGCATCGTGCCAAGTTC	0.438																																						ENST00000381624.3																			0											c.(967-969)Gtg>Atg		catsper channel auxiliary subunit delta							86	86	86					19																	5749174		1875	4107	5982	SO:0001583	missense	257062					integral to membrane		g.chr19:5749174G>A	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"transmembrane protein 146"	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.967G>A	19.37:g.5749174G>A	ENSP00000371037:p.Val323Met					CATSPERD_ENST00000381614.2_5'UTR	p.V323M	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN			11	1028	+			323					Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.967G>A	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	g	10.85	1.467278	0.26335	.	.	ENSG00000174898	ENST00000394548;ENST00000381624	T	0.22945	1.93	3.26	0.932	0.19466	.	0.387969	0.14997	U	0.286320	T	0.10809	0.0264	N	0.11427	0.14	0.09310	N	0.999996	B	0.24675	0.109	B	0.16722	0.016	T	0.25813	-1.0121	10	0.28530	T	0.3	-1.9269	5.5105	0.16878	0.2342:0.5496:0.2161:0.0	.	323	Q86XM0	TM146_HUMAN	M	249;323	ENSP00000371037:V323M	ENSP00000371037:V323M	V	+	1	0	TMEM146	5700174	0.000000	0.05858	0.011000	0.14972	0.139000	0.21198	-0.195000	0.09546	0.347000	0.23924	-0.630000	0.03990	GTG		0.438	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		24	41	0	0	0	1	0	24	41					A	5749174	G	A	5749174	3	1	246	1	0	0	0	0	1	0	0	0	16057	1145	40	1	1009	1	TMEM146	19	5749174	Missense_Mutation	SNP	G	TCGA-EL-A3ZK-01A-21D-A23M-08		5749174	53379809	9	5302											
ZFP36	7538	broad.mit.edu	37	chr19	39898883	39898883	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgaagacctggcggccccGggccaccctcctgtgcttcg	13	17	0	1	rs535257605		TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chr19:39898883G>A	ENST00000248673.3	+	2	583	c.525G>A	c.(523-525)ccG>ccA	p.P175P	ZFP36_ENST00000597629.1_Silent_p.P181P|MIR4530_ENST00000581459.1_RNA	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	175					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|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)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGGCGGCCCCGGGCCACCCTC	0.667													G|||	1	0.000199681	8e-04	0	5008	,	,		15145	0		0	False		,,,				2504	0				NSCLC(67;1164 1324 12056 21056 30097)	ENST00000597629.1																			0				large_intestine(1)|lung(5)|pancreas(1)	7						c.(541-543)ccG>ccA		ZFP36 ring finger protein							54	67	62					19																	39898883		2202	4298	6500	SO:0001819	synonymous_variant	7538				positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding	g.chr19:39898883G>A	M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"RING-type (C3HC4) zinc fingers"	12862	protein-coding gene	gene with protein product		190700	"zinc finger protein 36, C3H type, homolog (mouse)"			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.525G>A	19.37:g.39898883G>A						ZFP36_ENST00000248673.3_Silent_p.P175P	p.P181P			P26651	TTP_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		2	617	+	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		175					B2RA54	Silent	SNP	ENST00000248673.3	37	c.543G>A																																																																																					0.667	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				48	96	0	0	0	1	0	48	96					A	39898883	G	A	39898883	2	1	246	1	0	0	0	0	0	0	0	1	17642	1103	39	1		1	ZFP36	19	39898883	Silent	SNP	G	TCGA-EL-A3ZK-01A-21D-A23M-08	34149709	39898883	19230100	10	5303											
EPS8L1	54869	broad.mit.edu	37	chr19	55594786	55594786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agggacccccatacagacccGagttcttcagcggctgggag	13	13	2	1			TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chr19:55594786G>A	ENST00000201647.6	+	13	1311	c.1255G>A	c.(1255-1257)Gag>Aag	p.E419K	EPS8L1_ENST00000588359.1_Missense_Mutation_p.E73K|EPS8L1_ENST00000245618.5_Missense_Mutation_p.E292K|EPS8L1_ENST00000540810.1_Missense_Mutation_p.E355K|EPS8L1_ENST00000586329.1_Missense_Mutation_p.E401K|EPS8L1_ENST00000592824.1_3'UTR	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	419					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		ATACAGACCCGAGTTCTTCAG	0.672																																					Ovarian(149;255 1863 3636 27051 29647)	ENST00000201647.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12						c.(1255-1257)Gag>Aag		EPS8-like 1							13	16	15					19																	55594786		2130	4149	6279	SO:0001583	missense	54869					cytoplasm		g.chr19:55594786G>A	AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.1255G>A	19.37:g.55594786G>A	ENSP00000201647:p.Glu419Lys					EPS8L1_ENST00000540810.1_Missense_Mutation_p.E355K|EPS8L1_ENST00000588359.1_Missense_Mutation_p.E73K|EPS8L1_ENST00000586329.1_Missense_Mutation_p.E401K|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000245618.5_Missense_Mutation_p.E292K	p.E419K	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	13	1311	+			419					Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Missense_Mutation	SNP	ENST00000201647.6	37	c.1255G>A	CCDS12914.1	.	.	.	.	.	.	.	.	.	.	G	6.514	0.462969	0.12402	.	.	ENSG00000131037	ENST00000310075;ENST00000201647;ENST00000540810;ENST00000245618;ENST00000539118	T;T;T	0.05319	3.7;3.46;3.47	3.51	2.46	0.29980	.	0.614309	0.15712	N	0.248341	T	0.02848	0.0085	N	0.24115	0.695	0.31608	N	0.651927	B;B;B;B;B	0.33857	0.429;0.048;0.041;0.008;0.018	B;B;B;B;B	0.20184	0.028;0.013;0.013;0.004;0.005	T	0.29549	-1.0008	10	0.02654	T	1	-7.8796	7.1314	0.25504	0.1332:0.0:0.8668:0.0	.	355;401;166;292;419	B4DKV7;Q8TE68-3;Q8TE68-4;Q8TE68-2;Q8TE68	.;.;.;.;ES8L1_HUMAN	K	401;419;355;292;73	ENSP00000201647:E419K;ENSP00000437541:E355K;ENSP00000245618:E292K	ENSP00000201647:E419K	E	+	1	0	EPS8L1	60286598	0.210000	0.23517	0.545000	0.28153	0.555000	0.35460	1.283000	0.33237	0.597000	0.29811	0.561000	0.74099	GAG		0.672	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729		3	17	0	0	0	1	0	3	17					A	55594786	G	A	55594786	3	1	246	1	0	0	0	0	1	0	0	0	5195	1059	37	1	1353	1	EPS8L1	19	55594786	Missense_Mutation	SNP	G	TCGA-EL-A3ZK-01A-21D-A23M-08	15695903	55594786	3534197	11	5304											
PPEF1	5475	broad.mit.edu	37	chrX	18807364	18807364	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaatggatctcctactgaAcacttaacagagcatgaatg	7	9	1	3			TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chrX:18807364A>G	ENST00000361511.4	+	13	1532	c.1038A>G	c.(1036-1038)gaA>gaG	p.E346E	PPEF1_ENST00000359763.6_Silent_p.E293E|PPEF1_ENST00000349874.5_Silent_p.E346E|PPEF1_ENST00000544635.1_Silent_p.E281E|PPEF1_ENST00000543630.1_Silent_p.E346E	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	346	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					CTCCTACTGAACACTTAACAG	0.418																																						ENST00000361511.4																			0				breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43						c.(1036-1038)gaA>gaG		protein phosphatase, EF-hand calcium binding domain 1							129	100	110					X																	18807364		2203	4300	6503	SO:0001819	synonymous_variant	5475				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chrX:18807364A>G	BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	9243	protein-coding gene	gene with protein product	"protein phosphatase 7, catalytic subunit, alpha isozyme"	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.1038A>G	X.37:g.18807364A>G						PPEF1_ENST00000544635.1_Silent_p.E281E|PPEF1_ENST00000543630.1_Silent_p.E346E|PPEF1_ENST00000359763.6_Silent_p.E293E|PPEF1_ENST00000349874.5_Silent_p.E346E	p.E346E	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN			13	1532	+	Hepatocellular(33;0.183)		346			Catalytic.		A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Silent	SNP	ENST00000361511.4	37	c.1038A>G	CCDS14188.1																																																																																				0.418	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240		7	122	0	0	0	1	0	7	122					G	18807364	A	G	18807364	2	3	246	1	0	0	0	0	0	0	0	1	12307	40	2	3		3	PPEF1	23	18807364	Silent	SNP	A	TCGA-EL-A3ZK-01A-21D-A23M-08		18807364	136463196	12	5305											
ATP11C	286410	broad.mit.edu	37	chrX	138869347	138869347	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cttactcttctatttcttttCtttggttctctactctcata	2	11	6	0	rs147128476		TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chrX:138869347C>G	ENST00000327569.3	-	15	1684	c.1586G>C	c.(1585-1587)aGa>aCa	p.R529T	ATP11C_ENST00000361648.2_Missense_Mutation_p.R529T|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370557.1_Missense_Mutation_p.R526T|ATP11C_ENST00000370543.1_Missense_Mutation_p.R529T|ATP11C_ENST00000359686.2_Missense_Mutation_p.R529T	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	529					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|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(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TATTTCTTTTCTTTGGTTCTC	0.348																																						ENST00000370557.1																			0				breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75						c.(1576-1578)aGa>aCa		ATPase, class VI, type 11C							114	88	97					X																	138869347		2202	4299	6501	SO:0001583	missense	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138869347C>G	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"ATPases / P-type"	13554	protein-coding gene	gene with protein product		300516	"ATPase, Class VI, type 11C"			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.1586G>C	X.37:g.138869347C>G	ENSP00000332756:p.Arg529Thr					ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000327569.3_Missense_Mutation_p.R529T|ATP11C_ENST00000359686.2_Missense_Mutation_p.R529T|ATP11C_ENST00000361648.2_Missense_Mutation_p.R529T|ATP11C_ENST00000370543.1_Missense_Mutation_p.R529T	p.R526T			Q8NB49	AT11C_HUMAN			15	2604	-	Acute lymphoblastic leukemia(192;0.000127)		529					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	c.1577G>C	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.307512	0.23821	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02	5.76	4.79	0.61399	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.210800	0.47093	D	0.000260	T	0.31513	0.0799	N	0.02736	-0.51	0.37695	D	0.924005	B;B	0.10296	0.001;0.003	B;B	0.15870	0.004;0.014	T	0.28427	-1.0044	10	0.33141	T	0.24	.	3.5993	0.08019	0.0:0.6415:0.0:0.3585	.	529;529	Q8NB49-3;Q8NB49	.;AT11C_HUMAN	T	526;529;529;529;529	ENSP00000359588:R526T;ENSP00000355165:R529T;ENSP00000332756:R529T;ENSP00000359574:R529T;ENSP00000352715:R529T	ENSP00000332756:R529T	R	-	2	0	ATP11C	138697013	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.873000	0.39558	2.422000	0.82143	0.594000	0.82650	AGA		0.348	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		22	59	0	0	0	1	0	22	59					G	138869347	C	G	138869347	3	3	246	1	0	0	0	0	1	0	0	0	1121	913	32	4	1939	4	ATP11C	23	138869347	Missense_Mutation	SNP	C	TCGA-EL-A3ZK-01A-21D-A23M-08	120061983	138869347	16401213	13	5306											
PRDX6	9588	broad.mit.edu	37	chr1	173456996	173456996	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacctccgctacacaccccaGccttaagtctcttggagaag	7	15	1	1	rs1804052		TCGA-EL-A3ZL-01A-11D-A23M-08	TCGA-EL-A3ZL-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c1ffd6e-4a42-43c5-9e67-04aeab98c23e	136ac5a7-aff2-490d-85db-c40289aba059	g.chr1:173456996G>T	ENST00000340385.5	+	5	801	c.669G>T	c.(667-669)caG>caT	p.Q223H	PRDX6_ENST00000470017.1_3'UTR	NM_004905.2	NP_004896.1	P30041	PRDX6_HUMAN	peroxiredoxin 6	223					hydrogen peroxide catabolic process (GO:0042744)|phospholipid catabolic process (GO:0009395)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|membrane (GO:0016020)	antioxidant activity (GO:0016209)|glutathione peroxidase activity (GO:0004602)|peroxiredoxin activity (GO:0051920)|phospholipase A2 activity (GO:0004623)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						ACACACCCCAGCCTTAAGTCT	0.483																																						ENST00000340385.5																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						c.(667-669)caG>caT		peroxiredoxin 6							57	56	56					1																	173456996		2203	4300	6503	SO:0001583	missense	9588				cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding	g.chr1:173456996G>T	D14662	CCDS1307.1	1q24.1	2008-02-05			ENSG00000117592	ENSG00000117592			16753	protein-coding gene	gene with protein product		602316				11233154	Standard	NM_004905		Approved	AOP2, KIAA0106, 1-Cys, NSGPx, PRX, aiPLA2, MGC46173, p29	uc001giy.1	P30041	OTTHUMG00000034804	ENST00000340385.5:c.669G>T	1.37:g.173456996G>T	ENSP00000342026:p.Gln223His					PRDX6_ENST00000470017.1_3'UTR	p.Q223H	NM_004905.2	NP_004896.1	P30041	PRDX6_HUMAN			5	801	+			223					A8JZY7|P32077|Q5TAH4|Q5ZEZ8	Missense_Mutation	SNP	ENST00000340385.5	37	c.669G>T	CCDS1307.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.251011	0.39797	.	.	ENSG00000117592	ENST00000340385	T	0.14766	2.48	5.76	5.76	0.90799	Thioredoxin-like fold (1);	0.103195	0.64402	D	0.000002	T	0.11367	0.0277	M	0.83312	2.635	0.49213	D	0.999768	B	0.15473	0.013	B	0.14578	0.011	T	0.02852	-1.1102	10	0.52906	T	0.07	-8.4881	10.3119	0.43714	0.0:0.1445:0.7059:0.1496	.	223	P30041	PRDX6_HUMAN	H	223	ENSP00000342026:Q223H	ENSP00000342026:Q223H	Q	+	3	2	PRDX6	171723619	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	1.981000	0.40628	2.880000	0.98712	0.650000	0.86243	CAG		0.483	PRDX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084222.1	NM_004905		31	28	1	0	7.11191e-15	1	7.11191e-15	31	28					T	173456996	G	T	173456996	3	4	247	1	0	0	0	0	1	0	0	0	12469	962	34	4	687	4	PRDX6	1	173456996	Missense_Mutation	SNP	G	TCGA-EL-A3ZL-01A-11D-A23M-08		173456996	75793625	1	5307											
ANKRD23	200539	broad.mit.edu	37	chr2	97505817	97505817	+	Frame_Shift_Del	DEL	G	G	-													ggtgcgcactgccacgtgcaGgggggtgctcccgatctgag							TCGA-EL-A3ZL-01A-11D-A23M-08	TCGA-EL-A3ZL-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c1ffd6e-4a42-43c5-9e67-04aeab98c23e	136ac5a7-aff2-490d-85db-c40289aba059	g.chr2:97505817delG	ENST00000318357.4	-	7	681	c.640delC	c.(640-642)ctgfs	p.L214fs	ANKRD23_ENST00000418232.1_Frame_Shift_Del_p.L214fs|ANKRD23_ENST00000331001.2_Frame_Shift_Del_p.L172fs|ANKRD23_ENST00000476975.1_5'UTR	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	214					fatty acid metabolic process (GO:0006631)|response to mechanical stimulus (GO:0009612)	I band (GO:0031674)|intercalated disc (GO:0014704)|nucleus (GO:0005634)	titin binding (GO:0031432)			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						GCCACGTGCAGGGGGGTGCTC	0.637																																						ENST00000318357.4																			0				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						c.(640-642)tgfs		ankyrin repeat domain 23							18	17	17					2																	97505817		2177	4274	6451	SO:0001589	frameshift_variant	200539					nucleus		g.chr2:97505817delG		CCDS2027.1	2q11.2	2013-01-10			ENSG00000163126	ENSG00000163126		"Ankyrin repeat domain containing"	24470	protein-coding gene	gene with protein product	"diabetes related ankyrin repeat protein"	610736				12456686	Standard	NM_144994		Approved	DARP, FLJ32449, MARP3	uc002sxa.3	Q86SG2	OTTHUMG00000130534	ENST00000318357.4:c.640delC	2.37:g.97505817delG	ENSP00000321679:p.Leu214fs					ANKRD23_ENST00000476975.1_5'UTR|ANKRD23_ENST00000331001.2_Frame_Shift_Del_p.L172fs|ANKRD23_ENST00000418232.1_Frame_Shift_Del_p.L214fs	p.L214fs	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN			7	681	-			214					Q711K7|Q8NAJ7	Frame_Shift_Del	DEL	ENST00000318357.4	37	c.640delC	CCDS2027.1																																																																																				0.637	ANKRD23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252956.1	NM_144994		3	4						3	4	---	---	---	---	-	97505817	G	-	97505817	7	5	247	1	0	1	0	1	0	0	0	0	652	991	35	0	289	0	ANKRD23	2	97505817	Frame_Shift_Del	DEL	G	TCGA-EL-A3ZL-01A-11D-A23M-08		97505817	145693556	2	5308											
HEATR7B2	133558	broad.mit.edu	37	chr5	41012777	41012777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggttgaggctctccagacCgtccagcatttcctctagga	12	12	2	2			TCGA-EL-A3ZL-01A-11D-A23M-08	TCGA-EL-A3ZL-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c1ffd6e-4a42-43c5-9e67-04aeab98c23e	136ac5a7-aff2-490d-85db-c40289aba059	g.chr5:41012777C>T	ENST00000399564.4	-	30	3493	c.3043G>A	c.(3043-3045)Ggt>Agt	p.G1015S	MROH2B_ENST00000506092.2_Missense_Mutation_p.G570S	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1015																	CTCTCCAGACCGTCCAGCATT	0.478																																						ENST00000399564.4																			0											c.(3043-3045)Ggt>Agt		maestro heat-like repeat family member 2B							126	123	124					5																	41012777		1918	4144	6062	SO:0001583	missense	133558							g.chr5:41012777C>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.3043G>A	5.37:g.41012777C>T	ENSP00000382476:p.Gly1015Ser					MROH2B_ENST00000506092.2_Missense_Mutation_p.G570S	p.G1015S	NM_173489.4	NP_775760.3					30	3493	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.3043G>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	5.673	0.308741	0.10733	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.05513	3.43;3.43	5.92	3.84	0.44239	Armadillo-like helical (1);Armadillo-type fold (1);	0.101042	0.44688	D	0.000424	T	0.03695	0.0105	N	0.25485	0.75	0.33519	D	0.592177	P	0.40515	0.719	B	0.32342	0.144	T	0.41520	-0.9504	10	0.15952	T	0.53	.	9.3731	0.38266	0.0:0.8136:0.0:0.1864	.	1015	Q7Z745	HTRB2_HUMAN	S	570;720;1015	ENSP00000441504:G570S;ENSP00000382476:G1015S	ENSP00000296803:G720S	G	-	1	0	HEATR7B2	41048534	1.000000	0.71417	1.000000	0.80357	0.063000	0.16089	0.985000	0.29578	1.521000	0.48983	0.561000	0.74099	GGT		0.478	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		40	58	0	0	0	1	0	40	58					T	41012777	C	T	41012777	3	4	247	1	0	0	0	0	1	0	0	0	7035	652	23	1	1766	1	HEATR7B2	5	41012777	Missense_Mutation	SNP	C	TCGA-EL-A3ZL-01A-11D-A23M-08		41012777	139902483	3	5309											
FAM53C	51307	broad.mit.edu	37	chr5	137681091	137681091	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctgtcacccagtctgggCccgcaggcaagccgcttctt	10	17	3	0			TCGA-EL-A3ZL-01A-11D-A23M-08	TCGA-EL-A3ZL-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c1ffd6e-4a42-43c5-9e67-04aeab98c23e	136ac5a7-aff2-490d-85db-c40289aba059	g.chr5:137681091C>T	ENST00000239906.5	+	4	1142	c.714C>T	c.(712-714)ggC>ggT	p.G238G	FAM53C_ENST00000513056.1_Missense_Mutation_p.A48V|FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000434981.2_Silent_p.G238G|RP11-256P1.1_ENST00000504539.1_RNA	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	238										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCAGTCTGGGCCCGCAGGCAA	0.677																																						ENST00000513056.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(142-144)gCc>gTc		family with sequence similarity 53, member C							52	62	59					5																	137681091		2203	4300	6503	SO:0001819	synonymous_variant	51307							g.chr5:137681091C>T	AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"chromosome 5 open reading frame 6"	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.714C>T	5.37:g.137681091C>T						FAM53C_ENST00000434981.2_Silent_p.G238G|FAM53C_ENST00000239906.5_Silent_p.G238G|FAM53C_ENST00000507506.1_3'UTR	p.A48V			Q9NYF3	FA53C_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		4	337	+			0					B2RDJ5|D3DQB9	Missense_Mutation	SNP	ENST00000239906.5	37	c.143C>T	CCDS4204.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.199480	0.38806	.	.	ENSG00000120709	ENST00000513056	T	0.43294	0.95	5.55	1.85	0.25348	.	.	.	.	.	T	0.28962	0.0719	.	.	.	0.20821	N	0.999847	B	0.14438	0.01	B	0.16722	0.016	T	0.25082	-1.0142	8	0.51188	T	0.08	-12.7186	4.4993	0.11856	0.0:0.5186:0.154:0.3274	.	48	D6RE00	.	V	48	ENSP00000425154:A48V	ENSP00000425154:A48V	A	+	2	0	FAM53C	137708990	0.002000	0.14202	0.944000	0.38274	0.900000	0.52787	0.034000	0.13776	0.164000	0.19529	-0.176000	0.13171	GCC		0.677	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251278.2	NM_016605		7	176	0	0	0	1	0	7	176					T	137681091	C	T	137681091	2	4	247	1	0	0	0	0	0	0	0	1	5581	726	26	2		2	FAM53C	5	137681091	Silent	SNP	C	TCGA-EL-A3ZL-01A-11D-A23M-08	96668314	137681091	43234169	4	5310											
IL12B	3593	broad.mit.edu	37	chr5	158749491	158749491	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaataattcttggcctcGcatcttagaaaggtcttatt	7	9	3	2			TCGA-EL-A3ZL-01A-11D-A23M-08	TCGA-EL-A3ZL-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c1ffd6e-4a42-43c5-9e67-04aeab98c23e	136ac5a7-aff2-490d-85db-c40289aba059	g.chr5:158749491G>A	ENST00000231228.2	-	4	848	c.393C>T	c.(391-393)tgC>tgT	p.C131C		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B	131					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|interferon-gamma biosynthetic process (GO:0042095)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of cell adhesion (GO:0045785)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|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 Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to UV-B (GO:0010224)|sensory perception of pain (GO:0019233)|sexual reproduction (GO:0019953)|T-helper 1 type immune response (GO:0042088)|T-helper cell differentiation (GO:0042093)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)|interleukin-23 complex (GO:0070743)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|interleukin-12 alpha subunit binding (GO:0042164)|interleukin-12 receptor binding (GO:0005143)|protein heterodimerization activity (GO:0046982)			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	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)			TCTTGGCCTCGCATCTTAGAA	0.383																																						ENST00000231228.2																			0				cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11						c.(391-393)tgC>tgT		interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)							89	89	89					5																	158749491		2203	4300	6503	SO:0001819	synonymous_variant	3593				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity	g.chr5:158749491G>A	M65290	CCDS4346.1	5q31.1-q33.1	2014-09-17	2014-04-04		ENSG00000113302	ENSG00000113302		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5970	protein-coding gene	gene with protein product	"natural killer cell stimulatory factor-2", "cytotoxic lymphocyte maturation factor 2, p40", "interleukin 12, p40", "natural killer cell stimulatory factor, 40 kD subunit", "interleukin-12 beta chain", "IL12, subunit p40"	161561	"interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)"	NKSF2		1673147	Standard	NM_002187		Approved	CLMF, IL-12B, NKSF, CLMF2	uc003lxr.1	P29460	OTTHUMG00000130307	ENST00000231228.2:c.393C>T	5.37:g.158749491G>A							p.C131C	NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		4	848	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	131						Silent	SNP	ENST00000231228.2	37	c.393C>T	CCDS4346.1																																																																																				0.383	IL12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252652.2	NM_002187		12	20	0	0	0	1	0	12	20					A	158749491	G	A	158749491	2	1	247	1	0	0	0	0	0	0	0	1	7625	1079	38	1		1	IL12B	5	158749491	Silent	SNP	G	TCGA-EL-A3ZL-01A-11D-A23M-08	21068400	158749491	22165769	5	5311											
GJA1	2697	broad.mit.edu	37	chr6	121768964	121768964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaatcgaatggggcaggcggGaagcaccatctctaactccc	11	12	1	0			TCGA-EL-A3ZL-01A-11D-A23M-08	TCGA-EL-A3ZL-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c1ffd6e-4a42-43c5-9e67-04aeab98c23e	136ac5a7-aff2-490d-85db-c40289aba059	g.chr6:121768964G>A	ENST00000282561.3	+	2	1128	c.971G>A	c.(970-972)gGa>gAa	p.G324E		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	324					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	GGGCAGGCGGGAAGCACCATC	0.458																																						ENST00000282561.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33						c.(970-972)gGa>gAa		gap junction protein, alpha 1, 43kDa	Carvedilol(DB01136)						77	78	78					6																	121768964		2203	4300	6503	SO:0001583	missense	2697				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	g.chr6:121768964G>A	BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"Ion channels / Gap junction proteins (connexins)"	4274	protein-coding gene	gene with protein product	"oculodentodigital dysplasia (syndactyly type III)", "connexin 43"	121014	"gap junction protein, alpha-like", "gap junction protein, alpha 1, 43kDa (connexin 43)"	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.971G>A	6.37:g.121768964G>A	ENSP00000282561:p.Gly324Glu						p.G324E	NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN		GBM - Glioblastoma multiforme(226;0.00252)	2	1128	+			324					B2R5U9|Q6FHU1|Q9Y5I8	Missense_Mutation	SNP	ENST00000282561.3	37	c.971G>A	CCDS5123.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667826	0.47677	.	.	ENSG00000152661	ENST00000440608;ENST00000282561	T	0.79749	-1.3	4.88	4.88	0.63580	.	0.137792	0.25523	U	0.030091	T	0.79240	0.4412	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76052	-0.3100	10	0.25106	T	0.35	.	18.5905	0.91210	0.0:0.0:1.0:0.0	.	324	P17302	CXA1_HUMAN	E	308;324	ENSP00000282561:G324E	ENSP00000282561:G324E	G	+	2	0	GJA1	121810663	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	9.208000	0.95075	2.694000	0.91930	0.585000	0.79938	GGA		0.458	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042023.1	NM_000165		52	67	0	0	0	1	0	52	67					A	121768964	G	A	121768964	3	1	247	1	0	0	0	0	1	0	0	0	6400	1174	41	2	973	2	GJA1	6	121768964	Missense_Mutation	SNP	G	TCGA-EL-A3ZL-01A-11D-A23M-08		121768964	49346103	6	5312											
IGFBP1	3484	broad.mit.edu	37	chr7	45928328	45928328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcggcgtgacagccggcgCtccgtggcagtgcgcgccct	17	15	0	1			TCGA-EL-A3ZL-01A-11D-A23M-08	TCGA-EL-A3ZL-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c1ffd6e-4a42-43c5-9e67-04aeab98c23e	136ac5a7-aff2-490d-85db-c40289aba059	g.chr7:45928328C>T	ENST00000275525.3	+	1	373	c.77C>T	c.(76-78)gCt>gTt	p.A26V	IGFBP1_ENST00000468955.1_Missense_Mutation_p.A26V|IGFBP1_ENST00000457280.1_Missense_Mutation_p.A26V	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	26	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)|tissue regeneration (GO:0042246)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	insulin-like growth factor binding (GO:0005520)			large_intestine(2)|lung(4)	6						ACAGCCGGCGCTCCGTGGCAG	0.716																																						ENST00000275525.3																			0				large_intestine(2)|lung(4)	6						c.(76-78)gCt>gTt		insulin-like growth factor binding protein 1							15	18	17					7																	45928328		2197	4294	6491	SO:0001583	missense	3484					extracellular space	insulin-like growth factor binding	g.chr7:45928328C>T		CCDS5504.1	7p12.3	2014-09-16			ENSG00000146678	ENSG00000146678			5469	protein-coding gene	gene with protein product	"placental protein 12", "amniotic fluid binding protein", "alpha-pregnancy-associated endometrial globulin", "growth hormone independent-binding protein", "binding protein-28", "binding protein-26", "binding protein-25", "IGF-binding protein 1"	146730		IBP1		2461294	Standard	NM_000596		Approved	IGF-BP25, AFBP, hIGFBP-1, PP12	uc003tnp.3	P08833	OTTHUMG00000152343	ENST00000275525.3:c.77C>T	7.37:g.45928328C>T	ENSP00000275525:p.Ala26Val					IGFBP1_ENST00000468955.1_Missense_Mutation_p.A26V|IGFBP1_ENST00000457280.1_Missense_Mutation_p.A26V	p.A26V	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN			1	373	+			26			IGFBP N-terminal.		A4D2F4|D3DVL9|Q8IYP5	Missense_Mutation	SNP	ENST00000275525.3	37	c.77C>T	CCDS5504.1	.	.	.	.	.	.	.	.	.	.	c	15.31	2.795091	0.50208	.	.	ENSG00000146678	ENST00000275525;ENST00000457280;ENST00000468955	T;T;T	0.27890	1.67;1.64;2.72	4.93	4.93	0.64822	Insulin-like growth factor-binding protein, IGFBP (1);	0.540911	0.19238	N	0.119227	T	0.23014	0.0556	N	0.24115	0.695	0.09310	N	1	B;B;B	0.26195	0.144;0.144;0.144	B;B;B	0.24394	0.053;0.032;0.053	T	0.11767	-1.0574	10	0.32370	T	0.25	12.6002	15.657	0.77144	0.0:1.0:0.0:0.0	.	26;26;26	C9J6H2;P08833;C9JXF9	.;IBP1_HUMAN;.	V	26	ENSP00000275525:A26V;ENSP00000413511:A26V;ENSP00000417069:A26V	ENSP00000275525:A26V	A	+	2	0	IGFBP1	45894853	0.001000	0.12720	0.004000	0.12327	0.005000	0.04900	1.176000	0.31957	2.287000	0.76781	0.645000	0.84053	GCT		0.716	IGFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251355.2	NM_000596		14	19	0	0	0	1	0	14	19					T	45928328	C	T	45928328	3	4	247	1	0	0	0	0	1	0	0	0	7578	797	28	2	79	2	IGFBP1	7	45928328	Missense_Mutation	SNP	C	TCGA-EL-A3ZL-01A-11D-A23M-08		45928328	113210335	7	5313											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3ZL-01A-11D-A23M-08	TCGA-EL-A3ZL-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c1ffd6e-4a42-43c5-9e67-04aeab98c23e	136ac5a7-aff2-490d-85db-c40289aba059	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		22	29	0	0	0	1	0	22	29					T	140453136	A	T	140453136	3	4	247	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3ZL-01A-11D-A23M-08	94524808	140453136	18685527	8	5314											
EXT1	2131	broad.mit.edu	37	chr8	118817130	118817130	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggagtataggtagtgataaTatctgtaaaaatcaaagatg	11	2	2	2			TCGA-EL-A3ZL-01A-11D-A23M-08	TCGA-EL-A3ZL-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c1ffd6e-4a42-43c5-9e67-04aeab98c23e	136ac5a7-aff2-490d-85db-c40289aba059	g.chr8:118817130T>A	ENST00000378204.2	-	10	2692	c.1886A>T	c.(1885-1887)tAt>tTt	p.Y629F		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	629					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GTAGTGATAATATCTGTAAAA	0.433			"Mis, N, F, S"			"exostoses, osteosarcoma"			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													ENST00000378204.2			yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	"Mis, N, F, S"	multiple exostoses type 1 gene			M		"exostoses, osteosarcoma"			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38						c.(1885-1887)tAt>tTt		exostosin glycosyltransferase 1							107	104	105					8																	118817130		2203	4300	6503	SO:0001583	missense	2131	Langer-Giedion syndrome;Hereditary Multiple Exostoses	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr8:118817130T>A	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"Exostosin glycosyltransferase family"	3512	protein-coding gene	gene with protein product	"Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"	608177	"Langer-Giedion syndrome chromosome region", "exostoses (multiple) 1", "exostosin 1"	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.1886A>T	8.37:g.118817130T>A	ENSP00000367446:p.Tyr629Phe						p.Y629F	NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	STAD - Stomach adenocarcinoma(47;0.012)		10	2692	-	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		629					B2R7V2|Q9BVI9	Missense_Mutation	SNP	ENST00000378204.2	37	c.1886A>T	CCDS6324.1	.	.	.	.	.	.	.	.	.	.	t	31	5.074628	0.94000	.	.	ENSG00000182197	ENST00000378204	T	0.75477	-0.94	5.68	5.68	0.88126	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.054860	0.85682	D	0.000000	D	0.90013	0.6882	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92656	0.6137	10	0.72032	D	0.01	-8.3178	15.9321	0.79672	0.0:0.0:0.0:1.0	.	629	Q16394	EXT1_HUMAN	F	629	ENSP00000367446:Y629F	ENSP00000367446:Y629F	Y	-	2	0	EXT1	118886311	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.036000	0.88901	2.160000	0.67779	0.477000	0.44152	TAT		0.433	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127		21	53	0	0	0	1	0	21	53					A	118817130	T	A	118817130	3	1	247	1	0	0	0	0	1	0	0	0	5323	1406	49	5	362	5	EXT1	8	118817130	Missense_Mutation	SNP	T	TCGA-EL-A3ZL-01A-11D-A23M-08		118817130	27546892	9	5315											
PC	5091	broad.mit.edu	37	chr11	66638546	66638546	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagctgtgcaccaccctcaTgccacgccctccacccccat	6	21	1	0			TCGA-EL-A3ZL-01A-11D-A23M-08	TCGA-EL-A3ZL-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c1ffd6e-4a42-43c5-9e67-04aeab98c23e	136ac5a7-aff2-490d-85db-c40289aba059	g.chr11:66638546T>C	ENST00000393958.2	-	6	703	c.610A>G	c.(610-612)Atg>Gtg	p.M204V	PC_ENST00000393960.1_Missense_Mutation_p.M204V|PC_ENST00000355677.3_Missense_Mutation_p.M204V|PC_ENST00000393955.2_Missense_Mutation_p.M204V|PC_ENST00000524491.1_Missense_Mutation_p.M164V	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	204	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	ACCACCCTCATGCCACGCCCT	0.652																																						ENST00000393960.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(610-612)Atg>Gtg		pyruvate carboxylase	Biotin(DB00121)|Pyruvic acid(DB00119)						91	90	91					11																	66638546		2200	4295	6495	SO:0001583	missense	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66638546T>C	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.610A>G	11.37:g.66638546T>C	ENSP00000377530:p.Met204Val					PC_ENST00000355677.3_Missense_Mutation_p.M204V|PC_ENST00000393955.2_Missense_Mutation_p.M204V|PC_ENST00000524491.1_Missense_Mutation_p.M164V|PC_ENST00000393958.2_Missense_Mutation_p.M204V	p.M204V	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	7	891	-		Melanoma(852;0.0525)	204			ATP-grasp.|Biotin carboxylation.		B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	c.610A>G	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.125638	0.77436	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960;ENST00000524491;ENST00000355677	D;D;D;D;D	0.96940	-4.18;-4.18;-4.18;-4.18;-4.18	4.99	4.99	0.66335	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.000000	0.85682	D	0.000000	D	0.98273	0.9428	H	0.97918	4.105	0.58432	D	0.999999	P	0.46859	0.885	P	0.51701	0.677	D	0.99133	1.0853	10	0.87932	D	0	-38.7772	12.6279	0.56640	0.0:0.0:0.0:1.0	.	204	P11498	PYC_HUMAN	V	204;204;204;164;204	ENSP00000377527:M204V;ENSP00000377530:M204V;ENSP00000377532:M204V;ENSP00000434192:M164V;ENSP00000347900:M204V	ENSP00000347900:M204V	M	-	1	0	PC	66395122	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.105000	0.77031	1.885000	0.54596	0.459000	0.35465	ATG		0.652	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		28	47	0	0	0	1	0	28	47					C	66638546	T	C	66638546	3	2	247	1	0	0	0	0	1	0	0	0	11497	1464	51	3	2994	3	PC	11	66638546	Missense_Mutation	SNP	T	TCGA-EL-A3ZL-01A-11D-A23M-08		66638546	68367970	10	5316											
DNAH10	196385	broad.mit.edu	37	chr12	124403405	124403405	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaggtcttcaggctgtcactGaagaagtcgctgcctgattc	12	10	3	3			TCGA-EL-A3ZL-01A-11D-A23M-08	TCGA-EL-A3ZL-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c1ffd6e-4a42-43c5-9e67-04aeab98c23e	136ac5a7-aff2-490d-85db-c40289aba059	g.chr12:124403405G>A	ENST00000409039.3	+	64	11086	c.11061G>A	c.(11059-11061)ctG>ctA	p.L3687L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3687					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGCTGTCACTGAAGAAGTCGC	0.537																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(11059-11061)ctG>ctA		dynein, axonemal, heavy chain 10							66	67	67					12																	124403405		2103	4237	6340	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124403405G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.11061G>A	12.37:g.124403405G>A							p.L3687L	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	64	11086	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		3687					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.11061G>A	CCDS9255.2																																																																																				0.537	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			24	18	0	0	0	1	0	24	18					A	124403405	G	A	124403405	2	1	247	1	0	0	0	0	0	0	0	1	4598	1277	45	2		2	DNAH10	12	124403405	Silent	SNP	G	TCGA-EL-A3ZL-01A-11D-A23M-08		124403405	9448490	11	5317											
MYH4	4622	broad.mit.edu	37	chr17	10360869	10360869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggcgatgttgtagtccaCggtgccggcatagtgcacca	14	12	0	0	rs368576472		TCGA-EL-A3ZL-01A-11D-A23M-08	TCGA-EL-A3ZL-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c1ffd6e-4a42-43c5-9e67-04aeab98c23e	136ac5a7-aff2-490d-85db-c40289aba059	g.chr17:10360869C>T	ENST00000255381.2	-	16	1875	c.1765G>A	c.(1765-1767)Gtg>Atg	p.V589M	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	589	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTGTAGTCCACGGTGCCGGCA	0.527																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(1765-1767)Gtg>Atg		myosin, heavy chain 4, skeletal muscle		C	MET/VAL	1,4405		0,1,2202	122	122	122		1765	5.0	1.0	17		122	0,8600		0,0,4300	no	missense	MYH4	NM_017533.2	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	589/1940	10360869	1,13005	2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10360869C>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1765G>A	17.37:g.10360869C>T	ENSP00000255381:p.Val589Met					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.V589M	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			16	1875	-			589			Myosin head-like.			Missense_Mutation	SNP	ENST00000255381.2	37	c.1765G>A	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.205915	0.79127	2.27E-4	0.0	ENSG00000141048	ENST00000255381	D	0.93953	-3.32	5.01	5.01	0.66863	Myosin head, motor domain (2);	0.000000	0.33813	U	0.004539	D	0.98523	0.9507	H	0.99842	4.835	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	D	0.99751	1.1018	10	0.87932	D	0	.	18.6894	0.91577	0.0:1.0:0.0:0.0	.	589	Q9Y623	MYH4_HUMAN	M	589	ENSP00000255381:V589M	ENSP00000255381:V589M	V	-	1	0	MYH4	10301594	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	7.544000	0.82117	2.496000	0.84212	0.561000	0.74099	GTG		0.527	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		4	102	0	0	0	1	0	4	102					T	10360869	C	T	10360869	3	4	247	1	0	0	0	0	1	0	0	0	10037	536	19	1	4154	1	MYH4	17	10360869	Missense_Mutation	SNP	C	TCGA-EL-A3ZL-01A-11D-A23M-08		10360869	70834341	12	5318											
TNRC6C	57690	broad.mit.edu	37	chr17	76046475	76046475	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcttgacccaagagttctGtctaatactggttggggaca	11	8	3	2			TCGA-EL-A3ZL-01A-11D-A23M-08	TCGA-EL-A3ZL-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c1ffd6e-4a42-43c5-9e67-04aeab98c23e	136ac5a7-aff2-490d-85db-c40289aba059	g.chr17:76046475G>A	ENST00000588061.1	+	5	2059	c.1332G>A	c.(1330-1332)ctG>ctA	p.L444L	TNRC6C_ENST00000588847.1_Silent_p.L444L|TNRC6C_ENST00000544502.1_Silent_p.L444L|TNRC6C_ENST00000301624.4_Silent_p.L444L|TNRC6C_ENST00000541771.1_Silent_p.L444L|TNRC6C_ENST00000335749.4_Silent_p.L444L			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	444	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|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)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|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)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CAAGAGTTCTGTCTAATACTG	0.488																																						ENST00000335749.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.(1330-1332)ctG>ctA		trinucleotide repeat containing 6C							97	98	97					17																	76046475		1907	4128	6035	SO:0001819	synonymous_variant	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76046475G>A	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"Trinucleotide (CAG) repeat containing"	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.1332G>A	17.37:g.76046475G>A						TNRC6C_ENST00000544502.1_Silent_p.L444L|TNRC6C_ENST00000588847.1_Silent_p.L444L|TNRC6C_ENST00000301624.4_Silent_p.L444L|TNRC6C_ENST00000588061.1_Silent_p.L444L|TNRC6C_ENST00000541771.1_Silent_p.L444L	p.L444L	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		3	1901	+			444			Sufficient for interaction with argonaute family proteins.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Silent	SNP	ENST00000588061.1	37	c.1332G>A	CCDS45798.1																																																																																				0.488	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		40	70	0	0	0	1	0	40	70					A	76046475	G	A	76046475	2	1	247	1	0	0	0	0	0	0	0	1	16339	1364	48	2		2	TNRC6C	17	76046475	Silent	SNP	G	TCGA-EL-A3ZL-01A-11D-A23M-08	65685606	76046475	5148735	13	5319											
PDE4A	5141	broad.mit.edu	37	chr19	10561524	10561524	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaaacgtgtcagcagttGgcccgggagactctggagga	16	8	2	2			TCGA-EL-A3ZL-01A-11D-A23M-08	TCGA-EL-A3ZL-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c1ffd6e-4a42-43c5-9e67-04aeab98c23e	136ac5a7-aff2-490d-85db-c40289aba059	g.chr19:10561524G>A	ENST00000352831.6	+	6	800	c.690G>A	c.(688-690)ttG>ttA	p.L230L	PDE4A_ENST00000440014.2_Silent_p.L169L|PDE4A_ENST00000380702.2_Silent_p.L208L|PDE4A_ENST00000293683.5_Silent_p.L204L|PDE4A_ENST00000592685.1_Silent_p.L208L|PDE4A_ENST00000344979.3_5'Flank	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	230					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	GTCAGCAGTTGGCCCGGGAGA	0.602																																						ENST00000380702.2																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(622-624)ttG>ttA		phosphodiesterase 4A, cAMP-specific	Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)						44	42	43					19																	10561524		1568	3582	5150	SO:0001819	synonymous_variant	5141				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding	g.chr19:10561524G>A		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"Phosphodiesterases"	8780	protein-coding gene	gene with protein product	"phosphodiesterase E2 dunce homolog (Drosophila)"	600126	"phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.690G>A	19.37:g.10561524G>A						PDE4A_ENST00000440014.2_Silent_p.L169L|PDE4A_ENST00000293683.5_Silent_p.L204L|PDE4A_ENST00000592685.1_Silent_p.L208L|PDE4A_ENST00000352831.6_Silent_p.L230L	p.L208L			P27815	PDE4A_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		7	624	+			230					O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Silent	SNP	ENST00000352831.6	37	c.624G>A	CCDS45961.1																																																																																				0.602	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1			5	10	0	0	0	1	0	5	10					A	10561524	G	A	10561524	2	1	247	1	0	0	0	0	0	0	0	1	11639	1339	47	2		2	PDE4A	19	10561524	Silent	SNP	G	TCGA-EL-A3ZL-01A-11D-A23M-08		10561524	48567459	14	5320											
MYH14	79784	broad.mit.edu	37	chr19	50779287	50779287	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccgggcccagctgctgaaAtccctgcgggaggctcaagc	14	15	1	1			TCGA-EL-A3ZL-01A-11D-A23M-08	TCGA-EL-A3ZL-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c1ffd6e-4a42-43c5-9e67-04aeab98c23e	136ac5a7-aff2-490d-85db-c40289aba059	g.chr19:50779287A>G	ENST00000596571.1	+	25	3384	c.3384A>G	c.(3382-3384)aaA>aaG	p.K1128K	MYH14_ENST00000425460.1_Silent_p.K1136K|MYH14_ENST00000440075.2_Silent_p.K1169K|MYH14_ENST00000262269.8_Silent_p.K1169K|MYH14_ENST00000376970.2_Silent_p.K1161K|MYH14_ENST00000601313.1_Silent_p.K1169K|MYH14_ENST00000598205.1_Silent_p.K1136K			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1128					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AGCTGCTGAAATCCCTGCGGG	0.662																																						ENST00000440075.2																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(3505-3507)aaA>aaG		myosin, heavy chain 14, non-muscle							14	18	16					19																	50779287		1974	4148	6122	SO:0001819	synonymous_variant	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50779287A>G	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.3384A>G	19.37:g.50779287A>G						MYH14_ENST00000425460.1_Silent_p.K1136K|MYH14_ENST00000376970.2_Silent_p.K1161K|MYH14_ENST00000262269.8_Silent_p.K1169K|MYH14_ENST00000601313.1_Silent_p.K1169K|MYH14_ENST00000598205.1_Silent_p.K1136K|MYH14_ENST00000596571.1_Silent_p.K1128K	p.K1169K			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	28	3554	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	1128					B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	ENST00000596571.1	37	c.3507A>G	CCDS59411.1																																																																																				0.662	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		17	22	0	0	0	1	0	17	22					G	50779287	A	G	50779287	2	3	247	1	0	0	0	0	0	0	0	1	10033	98	4	3		3	MYH14	19	50779287	Silent	SNP	A	TCGA-EL-A3ZL-01A-11D-A23M-08	40217763	50779287	8349696	15	5321											
POTEH	23784	broad.mit.edu	37	chr22	16287673	16287673	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcttgccgctccccctgcaCcaggggaagcagtggcagca	12	16	1	0			TCGA-EL-A3ZL-01A-11D-A23M-08	TCGA-EL-A3ZL-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c1ffd6e-4a42-43c5-9e67-04aeab98c23e	136ac5a7-aff2-490d-85db-c40289aba059	g.chr22:16287673C>G	ENST00000343518.6	-	1	264	c.213G>C	c.(211-213)tgG>tgC	p.W71C		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	71								p.W71C(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCCCCCTGCACCAGGGGAAGC	0.582																																						ENST00000343518.6																			1	Substitution - Missense(1)	p.W71C(1)	NS(1)	NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(211-213)tgG>tgC		POTE ankyrin domain family, member H							110	126	120					22																	16287673		2105	3940	6045	SO:0001583	missense	23784							g.chr22:16287673C>G	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	133	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 7"	608913	"actin, beta-like 1", "ANKRD26-like family C, member 3"	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.213G>C	22.37:g.16287673C>G	ENSP00000340610:p.Trp71Cys						p.W71C	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN			1	264	-			71					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.213G>C	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.595853	0.00008	.	.	ENSG00000198062	ENST00000359587;ENST00000343518;ENST00000355872	T	0.25912	1.77	.	.	.	.	.	.	.	.	T	0.03608	0.0103	N	0.00321	-1.65	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16012	-1.0417	7	0.02654	T	1	.	.	.	.	.	71	Q6S545	POTEH_HUMAN	C	71	ENSP00000340610:W71C	ENSP00000340610:W71C	W	-	3	0	POTEH	14667673	0.006000	0.16342	0.007000	0.13788	0.007000	0.05969	-0.619000	0.05572	-1.825000	0.01207	-1.799000	0.00621	TGG		0.582	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		7	882	0	0	0	1	0	7	882					G	16287673	C	G	16287673	3	3	247	1	0	0	0	0	1	0	0	0	12267	508	18	4	1464	4	POTEH	22	16287673	Missense_Mutation	SNP	C	TCGA-EL-A3ZL-01A-11D-A23M-08		16287673	35016893	16	5322											
GABRE	2564	broad.mit.edu	37	chrX	151124198	151124198	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	acctagagaggtccgggctgGagcagactctgtcttgatcc	13	11	2	3			TCGA-EL-A3ZL-01A-11D-A23M-08	TCGA-EL-A3ZL-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c1ffd6e-4a42-43c5-9e67-04aeab98c23e	136ac5a7-aff2-490d-85db-c40289aba059	g.chrX:151124198G>C	ENST00000370328.3	-	7	972	c.919C>G	c.(919-921)Cca>Gca	p.P307A	GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370325.1_Missense_Mutation_p.P307A|AF274855.1_ENST00000582865.1_RNA|MIR224_ENST00000384889.1_RNA	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	307					gamma-aminobutyric acid signaling pathway (GO:0007214)|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)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				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)	GTCCGGGCTGGAGCAGACTCT	0.537																																						ENST00000370325.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.(919-921)Cca>Gca		gamma-aminobutyric acid (GABA) A receptor, epsilon							121	108	112					X																	151124198		2203	4300	6503	SO:0001583	missense	2564				gamma-aminobutyric acid signaling pathway	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.chrX:151124198G>C	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4085	protein-coding gene	gene with protein product	"GABA(A) receptor, epsilon"	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.919C>G	X.37:g.151124198G>C	ENSP00000359353:p.Pro307Ala					GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.P307A	p.P307A			P78334	GBRE_HUMAN			7	972	-	Acute lymphoblastic leukemia(192;6.56e-05)		307					E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	c.919C>G	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.534971	0.27475	.	.	ENSG00000102287	ENST00000370328;ENST00000370325	D;D	0.87809	-2.3;-2.3	5.8	1.96	0.26148	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.209799	0.33813	N	0.004523	T	0.78201	0.4246	L	0.41027	1.25	0.36397	D	0.86285	B	0.17038	0.02	B	0.22601	0.04	T	0.65455	-0.6164	10	0.20046	T	0.44	.	6.5227	0.22285	0.1671:0.2984:0.5345:0.0	.	307	P78334	GBRE_HUMAN	A	307	ENSP00000359353:P307A;ENSP00000359350:P307A	ENSP00000359350:P307A	P	-	1	0	GABRE	150874854	1.000000	0.71417	0.001000	0.08648	0.732000	0.41865	4.438000	0.59961	-0.041000	0.13558	0.529000	0.55759	CCA		0.537	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		5	133	0	0	0	1	0	5	133					C	151124198	G	C	151124198	3	2	247	1	0	0	0	0	1	0	0	0	6170	1174	41	4	613	4	GABRE	23	151124198	Missense_Mutation	SNP	G	TCGA-EL-A3ZL-01A-11D-A23M-08		151124198	4146362	17	5323											
ATAD3C	219293	broad.mit.edu	37	chr1	1390875	1390875	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcagtcgaccccaggaCgtgctggagggtgttgtgct	14	12	1	0	rs1781147	byFrequency	TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr1:1390875C>T	ENST00000378785.2	+	5	1409	c.414C>T	c.(412-414)gaC>gaT	p.D138D		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	138							ATP binding (GO:0005524)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	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;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|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;0.145)		GACCCCAGGACGTGCTGGAGG	0.677													c|||	2129	0.42512	0.528	0.4323	5008	,	,		12946	0.499		0.1879	False		,,,				2504	0.4489					ENST00000378785.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7						c.(412-414)gaC>gaT		ATPase family, AAA domain containing 3C		C		656,728		164,328,200	61	62	62		414	-1.4	0.2	1	dbSNP_89	62	617,2565		72,473,1046	no	coding-synonymous	ATAD3C	NM_001039211.2		236,801,1246	TT,TC,CC		19.3903,47.3988,27.88		138/412	1390875	1273,3293	692	1591	2283	SO:0001819	synonymous_variant	219293						ATP binding|nucleoside-triphosphatase activity	g.chr1:1390875C>T	AK091918	CCDS44039.1	1p36.33	2010-04-21		2007-02-08	ENSG00000215915	ENSG00000215915		"ATPases / AAA-type"	32151	protein-coding gene	gene with protein product							Standard	NM_001039211		Approved	FLJ34599	uc001aft.2	Q5T2N8	OTTHUMG00000000531	ENST00000378785.2:c.414C>T	1.37:g.1390875C>T							p.D138D	NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|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;0.145)	5	1409	+	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)	138					Q8N1Z5	Silent	SNP	ENST00000378785.2	37	c.414C>T	CCDS44039.1																																																																																				0.677	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001279.3	NM_001039211		6	29	0	0	0	1	0	6	29					T	1390875	C	T	1390875	2	4	248	1	0	0	0	0	0	0	0	1	1075	535	19	1		1	ATAD3C	1	1390875	Silent	SNP	C	TCGA-EL-A3ZM-01A-12D-A23M-08		1390875	247859746	1	5324											
DNAJC8	22826	broad.mit.edu	37	chr1	28559481	28559481	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cggtgctgcctccgccgcctGaagtcccgctctctcctgaa	10	18	1	2			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr1:28559481G>A	ENST00000263697.4	-	1	55	c.29C>T	c.(28-30)tCa>tTa	p.S10L	DNAJC8_ENST00000489277.1_5'UTR	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	10					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)				kidney(1)|large_intestine(3)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		TCCGCCGCCTGAAGTCCCGCT	0.627																																						ENST00000263697.4																			0				kidney(1)|large_intestine(3)|lung(2)	6						c.(28-30)tCa>tTa		DnaJ (Hsp40) homolog, subfamily C, member 8							46	56	53					1																	28559481		2107	4217	6324	SO:0001583	missense	22826				nuclear mRNA splicing, via spliceosome|protein folding	nucleoplasm	heat shock protein binding|unfolded protein binding	g.chr1:28559481G>A	AF083190	CCDS41292.1	1p35	2011-09-02			ENSG00000126698	ENSG00000126698		"Heat shock proteins / DNAJ (HSP40)"	15470	protein-coding gene	gene with protein product						11147971	Standard	NM_014280		Approved	SPF31	uc001bpn.3	O75937	OTTHUMG00000003538	ENST00000263697.4:c.29C>T	1.37:g.28559481G>A	ENSP00000263697:p.Ser10Leu					DNAJC8_ENST00000489277.1_5'UTR	p.S10L	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)	1	55	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	10					B4DUU4|D3DPM0|Q6IBA4|Q8N4Z5|Q9P051|Q9P067	Missense_Mutation	SNP	ENST00000263697.4	37	c.29C>T	CCDS41292.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067141	0.55539	.	.	ENSG00000126698	ENST00000263697	T	0.63255	-0.03	4.48	4.48	0.54585	.	0.447691	0.23345	N	0.049182	T	0.54447	0.1859	L	0.43152	1.355	0.45621	D	0.99855	B	0.12630	0.006	B	0.14578	0.011	T	0.52155	-0.8613	10	0.38643	T	0.18	-12.7911	14.5176	0.67830	0.0:0.0:1.0:0.0	.	10	O75937	DNJC8_HUMAN	L	10	ENSP00000263697:S10L	ENSP00000263697:S10L	S	-	2	0	DNAJC8	28432068	0.997000	0.39634	0.987000	0.45799	0.969000	0.65631	2.552000	0.45828	2.482000	0.83794	0.655000	0.94253	TCA		0.627	DNAJC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009860.1	NM_014280		8	46	0	0	0	1	0	8	46					A	28559481	G	A	28559481	3	1	248	1	0	0	0	0	1	0	0	0	4655	1294	45	2	768	2	DNAJC8	1	28559481	Missense_Mutation	SNP	G	TCGA-EL-A3ZM-01A-12D-A23M-08	27168606	28559481	220691140	2	5325											
ARHGEF11	9826	broad.mit.edu	37	chr1	156928533	156928533	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggaagctgaaagactcaCaaaatatctccaagggcagc	11	9	2	2			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr1:156928533C>T	ENST00000361409.2	-	16	2125		c.e16+1		ARHGEF11_ENST00000368194.3_Splice_Site	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11						actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAAAGACTCACAAAATATCTC	0.532																																						ENST00000368194.3																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81						c.e17+1		Rho guanine nucleotide exchange factor (GEF) 11							50	46	47					1																	156928533		2203	4300	6503	SO:0001630	splice_region_variant	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156928533C>T	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"Rho guanine nucleotide exchange factors"	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.1382+1G>A	1.37:g.156928533C>T						ARHGEF11_ENST00000361409.2_Splice_Site		NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN			17	2542	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)							D3DVD0|Q5VY40|Q6PFW2	Splice_Site	SNP	ENST00000361409.2	37		CCDS1162.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395961	0.83011	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0224	0.89259	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARHGEF11	155195157	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	5.885000	0.69736	2.606000	0.88127	0.491000	0.48974	.		0.532	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236	Intron	10	16	0	0	0	1	0	10	16					T	156928533	C	T	156928533	5	4	248	1	0	0	0	0	0	0	1	0	896	492	17	2	3285	2	ARHGEF11	1	156928533	Splice_Site	SNP	C	TCGA-EL-A3ZM-01A-12D-A23M-08	128369052	156928533	92322088	3	5326											
NBAS	51594	broad.mit.edu	37	chr2	15307443	15307443	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttggtcacaattggaatcaTtcaccttcaagaaataagac	6	9	4	2			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr2:15307443T>A	ENST00000281513.5	-	52	6870	c.6845A>T	c.(6844-6846)aAt>aTt	p.N2282I	NBAS_ENST00000441750.1_Missense_Mutation_p.N2162I	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2282					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ATTGGAATCATTCACCTTCAA	0.517																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(6844-6846)aAt>aTt		neuroblastoma amplified sequence							58	52	54					2																	15307443		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15307443T>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.6845A>T	2.37:g.15307443T>A	ENSP00000281513:p.Asn2282Ile					NBAS_ENST00000441750.1_Missense_Mutation_p.N2162I	p.N2282I	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			52	6870	-			2282					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.6845A>T	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.91|14.91	2.676304|2.676304	0.47886|0.47886	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000442506|ENST00000441750;ENST00000281513;ENST00000433283	.|T;T	.|0.32515	.|1.45;1.45	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	.|0.487586	.|0.25009	.|N	.|0.033842	T|T	0.34803|0.34803	0.0910|0.0910	L|L	0.47716|0.47716	1.5|1.5	0.31887|0.31887	N|N	0.617667|0.617667	.|D;B	.|0.54207	.|0.965;0.242	.|P;B	.|0.49637	.|0.617;0.032	T|T	0.50890|0.50890	-0.8774|-0.8774	5|10	.|0.87932	.|D	.|0	.|.	9.2476|9.2476	0.37536|0.37536	0.0:0.0802:0.0:0.9198|0.0:0.0802:0.0:0.9198	.|.	.|2162;2282	.|A2RRP1-2;A2RRP1	.|.;NBAS_HUMAN	L|I	1330|2162;2282;95	.|ENSP00000413201:N2162I;ENSP00000281513:N2282I	.|ENSP00000281513:N2282I	M|N	-|-	1|2	0|0	NBAS|NBAS	15224894|15224894	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.083000|0.083000	0.17756|0.17756	3.910000|3.910000	0.56371|0.56371	2.062000|2.062000	0.61559|0.61559	0.533000|0.533000	0.62120|0.62120	ATG|AAT		0.517	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		8	37	0	0	0	1	0	8	37					A	15307443	T	A	15307443	3	1	248	1	0	0	0	0	1	0	0	0	10186	1493	52	5	274	5	NBAS	2	15307443	Missense_Mutation	SNP	T	TCGA-EL-A3ZM-01A-12D-A23M-08		15307443	227891930	4	5327											
COL6A3	1293	broad.mit.edu	37	chr2	238275436	238275436	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcctggacgttgcccacGcggaacgctgtggcgctgtt	14	13	0	0	rs202086524		TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr2:238275436G>A	ENST00000295550.4	-	11	5846	c.5394C>T	c.(5392-5394)cgC>cgT	p.R1798R	COL6A3_ENST00000347401.3_Silent_p.R1597R|COL6A3_ENST00000472056.1_Silent_p.R1191R|COL6A3_ENST00000409809.1_Silent_p.R1592R|COL6A3_ENST00000346358.4_Silent_p.R1598R|COL6A3_ENST00000353578.4_Silent_p.R1592R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1798	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CGTTGCCCACGCGGAACGCTG	0.547													G|||	1	0.000199681	0	0	5008	,	,		22287	0		0.001	False		,,,				2504	0					ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(5392-5394)cgC>cgT		collagen, type VI, alpha 3							97	89	92					2																	238275436		2203	4300	6503	SO:0001819	synonymous_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238275436G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5394C>T	2.37:g.238275436G>A						COL6A3_ENST00000353578.4_Silent_p.R1592R|COL6A3_ENST00000409809.1_Silent_p.R1592R|COL6A3_ENST00000346358.4_Silent_p.R1598R|COL6A3_ENST00000347401.3_Silent_p.R1597R|COL6A3_ENST00000472056.1_Silent_p.R1191R	p.R1798R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	11	5846	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1798			Nonhelical region.|VWFA 9.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	c.5394C>T	CCDS33412.1																																																																																				0.547	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		21	75	0	0	0	1	0	21	75					A	238275436	G	A	238275436	2	1	248	1	0	0	0	0	0	0	0	1	3701	1074	38	1		1	COL6A3	2	238275436	Silent	SNP	G	TCGA-EL-A3ZM-01A-12D-A23M-08	222967993	238275436	4923937	5	5328											
PRR23A	729627	broad.mit.edu	37	chr3	138724757	138724757	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccacttccagcccagcagaCgagtcgtcctgcgctcctga	9	17	0	2	rs11924188	byFrequency	TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr3:138724757C>G	ENST00000383163.2	-	1	353	c.354G>C	c.(352-354)tcG>tcC	p.S118S	MRPS22_ENST00000495075.1_5'UTR	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	118										endometrium(3)|kidney(1)|lung(7)	11						GCCCAGCAGACGAGTCGTCCT	0.617													C|||	3066	0.61222	0.4349	0.6066	5008	,	,		16100	0.6141		0.7594	False		,,,				2504	0.7025					ENST00000383163.2																			0				endometrium(3)|kidney(1)|lung(7)	11						c.(352-354)tcG>tcC		proline rich 23A		C		701,683		183,335,174	36	35	35		354	-2.9	0.0	3	dbSNP_120	35	2443,739		942,559,90	no	coding-synonymous	PRR23A	NM_001134659.1		1125,894,264	GG,GC,CC		23.2244,49.3497,31.1432		118/267	138724757	3144,1422	692	1591	2283	SO:0001819	synonymous_variant	729627							g.chr3:138724757C>G		CCDS46923.1	3q22.3	2014-06-03				ENSG00000206260			37172	protein-coding gene	gene with protein product							Standard	NM_001134659		Approved		uc011bms.2	A6NEV1		ENST00000383163.2:c.354G>C	3.37:g.138724757C>G						MRPS22_ENST00000495075.1_5'UTR	p.S118S	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN			1	353	-			118						Silent	SNP	ENST00000383163.2	37	c.354G>C	CCDS46923.1																																																																																				0.617	PRR23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361503.1	NM_001134659		4	30	0	0	0	1	0	4	30					G	138724757	C	G	138724757	2	3	248	1	0	0	0	0	0	0	0	1	12594	523	19	4		4	PRR23A	3	138724757	Silent	SNP	C	TCGA-EL-A3ZM-01A-12D-A23M-08		138724757	59297673	6	5329											
GK2	2712	broad.mit.edu	37	chr4	80328887	80328887	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tttctcacattgtcaagcatCcaacgaagttttactgcact	5	11	2	0			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr4:80328887C>A	ENST00000358842.3	-	1	485	c.468G>T	c.(466-468)tgG>tgT	p.W156C		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TGTCAAGCATCCAACGAAGTT	0.413																																						ENST00000358842.3																			0				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(466-468)tgG>tgT		glycerol kinase 2							137	132	134					4																	80328887		2203	4300	6503	SO:0001583	missense	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80328887C>A	BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"Glycerol kinases"	4291	protein-coding gene	gene with protein product		600148	"glycerol kinase pseudogene 2"	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.468G>T	4.37:g.80328887C>A	ENSP00000351706:p.Trp156Cys						p.W156C	NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN			1	485	-			156					Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	c.468G>T	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957103	0.53293	.	.	ENSG00000196475	ENST00000358842	D	0.85861	-2.04	3.76	3.76	0.43208	Carbohydrate kinase, FGGY, conserved site (1);Carbohydrate kinase, FGGY, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94377	0.8192	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95599	0.8661	10	0.87932	D	0	-20.143	13.8928	0.63750	0.0:1.0:0.0:0.0	.	156	Q14410	GLPK2_HUMAN	C	156	ENSP00000351706:W156C	ENSP00000351706:W156C	W	-	3	0	GK2	80547911	1.000000	0.71417	0.957000	0.39632	0.773000	0.43773	7.259000	0.78381	2.418000	0.82041	0.585000	0.79938	TGG		0.413	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		20	98	1	0	1.56452e-12	1	1.84062e-12	20	98					A	80328887	C	A	80328887	3	1	248	1	0	0	0	0	1	0	0	0	6421	856	30	4	1197	4	GK2	4	80328887	Missense_Mutation	SNP	C	TCGA-EL-A3ZM-01A-12D-A23M-08		80328887	110825389	7	5330											
SLC39A8	64116	broad.mit.edu	37	chr4	103189158	103189158	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gagggcatcgcagagcgttaTcatccaggcaatcgtcccta	11	12	1	1			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr4:103189158T>A	ENST00000394833.2	-	6	1395	c.919A>T	c.(919-921)Ata>Tta	p.I307L	SLC39A8_ENST00000424970.2_Missense_Mutation_p.I307L|SLC39A8_ENST00000356736.4_Missense_Mutation_p.I307L	NM_001135148.1|NM_022154.5	NP_001128620.1|NP_071437.3	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	307					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)|plasma membrane (GO:0005886)	metal ion transmembrane transporter activity (GO:0046873)			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		CAGAGCGTTATCATCCAGGCA	0.468																																						ENST00000424970.2																			0				large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(919-921)Ata>Tta		solute carrier family 39 (zinc transporter), member 8							171	151	158					4																	103189158		2203	4300	6503	SO:0001583	missense	64116					integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity	g.chr4:103189158T>A		CCDS3656.1, CCDS47117.1	4q22-q24	2013-05-22			ENSG00000138821	ENSG00000138821		"Solute carriers"	20862	protein-coding gene	gene with protein product		608732	"solute carrier family 39 (metal ion transporter), member 8"			12504855, 12659941	Standard	NM_001135146		Approved	BIGM103	uc003hwc.2	Q9C0K1	OTTHUMG00000131120	ENST00000394833.2:c.919A>T	4.37:g.103189158T>A	ENSP00000378310:p.Ile307Leu					SLC39A8_ENST00000394833.2_Missense_Mutation_p.I307L|SLC39A8_ENST00000356736.4_Missense_Mutation_p.I307L	p.I307L	NM_001135147.1	NP_001128619.1	Q9C0K1	S39A8_HUMAN		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)	7	1234	-		Hepatocellular(203;0.217)	307					B4E2H3|Q96SM9|Q9BVC0|Q9NSA4	Missense_Mutation	SNP	ENST00000394833.2	37	c.919A>T	CCDS3656.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.455321	0.84209	.	.	ENSG00000138821	ENST00000424970;ENST00000356736;ENST00000394833	T;T;T	0.40225	1.04;1.04;1.04	5.37	2.93	0.34026	.	0.202765	0.47093	D	0.000246	T	0.52289	0.1725	M	0.68728	2.09	0.49389	D	0.999781	P;D;P	0.55385	0.948;0.971;0.802	P;P;P	0.57057	0.612;0.812;0.477	T	0.50792	-0.8786	10	0.72032	D	0.01	-35.4236	8.1093	0.30905	0.0:0.2418:0.0:0.7582	.	307;307;240	B4E2H3;Q9C0K1;Q9C0K1-2	.;S39A8_HUMAN;.	L	307	ENSP00000394548:I307L;ENSP00000349174:I307L;ENSP00000378310:I307L	ENSP00000349174:I307L	I	-	1	0	SLC39A8	103408181	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	2.723000	0.47277	0.360000	0.24265	0.528000	0.53228	ATA		0.468	SLC39A8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253798.1	NM_022154		30	56	0	0	0	1	0	30	56					A	103189158	T	A	103189158	3	1	248	1	0	0	0	0	1	0	0	0	14624	1435	50	5	552	5	SLC39A8	4	103189158	Missense_Mutation	SNP	T	TCGA-EL-A3ZM-01A-12D-A23M-08	22860271	103189158	87965118	8	5331											
PPIL1	51645	broad.mit.edu	37	chr6	36839520	36839520	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgggtcacctccttggAtcatgaagtctttgataatt	9	8	3	2			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr6:36839520A>T	ENST00000373699.5	-	2	436	c.185T>A	c.(184-186)aTc>aAc	p.I62N	C6orf89_ENST00000510325.2_5'Flank|C6orf89_ENST00000359359.2_5'Flank	NM_016059.4	NP_057143.1	Q9Y3C6	PPIL1_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 1	62	Cyclosporin A binding.|PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			lung(1)|ovary(1)	2						ACCTCCTTGGATCATGAAGTC	0.398																																						ENST00000373699.5																			0				lung(1)|ovary(1)	2						c.(184-186)aTc>aAc		peptidylprolyl isomerase (cyclophilin)-like 1							195	185	189					6																	36839520		2203	4300	6503	SO:0001583	missense	51645				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr6:36839520A>T	AF090992	CCDS4826.1	6p21.1	2008-08-29			ENSG00000137168	ENSG00000137168			9260	protein-coding gene	gene with protein product		601301				10072585, 8978786	Standard	NM_016059		Approved	CYPL1	uc003omu.2	Q9Y3C6	OTTHUMG00000014612	ENST00000373699.5:c.185T>A	6.37:g.36839520A>T	ENSP00000362803:p.Ile62Asn						p.I62N	NM_016059.4	NP_057143.1	Q9Y3C6	PPIL1_HUMAN			2	436	-			62			Cyclosporin A binding.|PPIase cyclophilin-type.		O15001|Q5TDC9	Missense_Mutation	SNP	ENST00000373699.5	37	c.185T>A	CCDS4826.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.599944	0.87055	.	.	ENSG00000137168	ENST00000373699	T	0.28666	1.6	5.4	5.4	0.78164	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);Peptidyl-prolyl cis-trans isomerase, cyclophilin-type, conserved site (1);	0.058791	0.64402	D	0.000003	T	0.62636	0.2444	H	0.97415	4	0.58432	D	0.999996	D	0.67145	0.996	D	0.68765	0.96	T	0.77230	-0.2664	10	0.87932	D	0	.	13.6739	0.62443	1.0:0.0:0.0:0.0	.	62	Q9Y3C6	PPIL1_HUMAN	N	62	ENSP00000362803:I62N	ENSP00000362803:I62N	I	-	2	0	PPIL1	36947498	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.859000	0.92264	2.159000	0.67721	0.533000	0.62120	ATC		0.398	PPIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040382.1			41	54	0	0	0	1	0	41	54					T	36839520	A	T	36839520	3	4	248	1	0	0	0	0	1	0	0	0	12326	333	12	5	327	5	PPIL1	6	36839520	Missense_Mutation	SNP	A	TCGA-EL-A3ZM-01A-12D-A23M-08		36839520	134275547	9	5332											
C6orf174	387104	broad.mit.edu	37	chr6	127796843	127796843	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtcgctctcgccgccgatGggcccttcgcgcttgcggtg	15	15	1	0			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr6:127796843G>A	ENST00000525778.1	-	6	3073	c.2328C>T	c.(2326-2328)ccC>ccT	p.P776P	SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000481848.2_Silent_p.P776P|SOGA3_ENST00000368268.2_Silent_p.P776P|SOGA3_ENST00000556132.1_Silent_p.P776P|SOGA3_ENST00000465909.2_Silent_p.P776P			Q5TF21	SOGA3_HUMAN	SOGA family member 3	776					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CGCCGCCGATGGGCCCTTCGC	0.726																																						ENST00000556132.1																			0											c.(2326-2328)ccC>ccT		SOGA family member 3							20	28	25					6																	127796843		2087	4208	6295	SO:0001819	synonymous_variant	387104					integral to membrane		g.chr6:127796843G>A	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 174"	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.2328C>T	6.37:g.127796843G>A						SOGA3_ENST00000525778.1_Silent_p.P776P|SOGA3_ENST00000481848.2_Silent_p.P776P|SOGA3_ENST00000368268.2_Silent_p.P776P|SOGA3_ENST00000465909.2_Silent_p.P776P	p.P776P	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN			6	3192	-			776						Silent	SNP	ENST00000525778.1	37	c.2328C>T	CCDS43505.1																																																																																				0.726	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		24	50	0	0	0	1	0	24	50					A	127796843	G	A	127796843	2	1	248	1	0	0	0	0	0	0	0	1	2345	1335	47	2		2	C6orf174	6	127796843	Silent	SNP	G	TCGA-EL-A3ZM-01A-12D-A23M-08	90957323	127796843	43318224	10	5333											
PDE7B	27115	broad.mit.edu	37	chr6	136508198	136508198	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acttgaacagaaatttgaacTggaaatcagtcctctttgta	7	7	2	3			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr6:136508198T>A	ENST00000308191.6	+	12	1373	c.1070T>A	c.(1069-1071)cTg>cAg	p.L357Q	RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	357	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	AAATTTGAACTGGAAATCAGT	0.294																																						ENST00000308191.6																			0				breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1069-1071)cTg>cAg		phosphodiesterase 7B	Dyphylline(DB00651)|Ketotifen(DB00920)						83	90	88					6																	136508198		2203	4300	6503	SO:0001583	missense	27115				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr6:136508198T>A	AB038040	CCDS5175.1	6q23-q24	2008-03-18			ENSG00000171408	ENSG00000171408	3.1.4.17	"Phosphodiesterases"	8792	protein-coding gene	gene with protein product		604645				10618442	Standard	XM_005266931		Approved		uc003qgp.3	Q9NP56	OTTHUMG00000015641	ENST00000308191.6:c.1070T>A	6.37:g.136508198T>A	ENSP00000310661:p.Leu357Gln					RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA	p.L357Q	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	12	1373	+	Colorectal(23;0.24)		357			Catalytic (By similarity).		Q5W154	Missense_Mutation	SNP	ENST00000308191.6	37	c.1070T>A	CCDS5175.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.907123	0.92107	.	.	ENSG00000171408	ENST00000308191;ENST00000367787	T	0.80738	-1.41	5.77	5.77	0.91146	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.075441	0.53938	D	0.000047	D	0.90106	0.6909	M	0.91459	3.21	0.80722	D	1	D;D	0.71674	0.985;0.998	P;D	0.68039	0.773;0.955	D	0.92383	0.5915	10	0.87932	D	0	.	16.0954	0.81117	0.0:0.0:0.0:1.0	.	409;357	A1E5M1;Q9NP56	.;PDE7B_HUMAN	Q	357;493	ENSP00000310661:L357Q	ENSP00000310661:L357Q	L	+	2	0	PDE7B	136549891	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.695000	0.84257	2.203000	0.70933	0.455000	0.32223	CTG		0.294	PDE7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042371.1			14	40	0	0	0	1	0	14	40					A	136508198	T	A	136508198	3	1	248	1	0	0	0	0	1	0	0	0	11652	1580	55	5	1116	5	PDE7B	6	136508198	Missense_Mutation	SNP	T	TCGA-EL-A3ZM-01A-12D-A23M-08	8711355	136508198	34606869	11	5334											
GRM1	2911	broad.mit.edu	37	chr6	146350748	146350748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagtgttgctggcaggagCgtcgtctcagcgctcggtgg	17	9	1	0			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr6:146350748C>T	ENST00000282753.1	+	1	330	c.95C>T	c.(94-96)gCg>gTg	p.A32V	GRM1_ENST00000361719.2_Missense_Mutation_p.A32V|GRM1_ENST00000507907.1_Missense_Mutation_p.A32V|GRM1_ENST00000355289.4_Missense_Mutation_p.A32V|GRM1_ENST00000392299.2_Missense_Mutation_p.A32V|GRM1_ENST00000492807.2_Missense_Mutation_p.A32V			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	32					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CTGGCAGGAGCGTCGTCTCAG	0.582																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(94-96)gCg>gTg		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						92	106	101					6																	146350748		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146350748C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.95C>T	6.37:g.146350748C>T	ENSP00000282753:p.Ala32Val					GRM1_ENST00000282753.1_Missense_Mutation_p.A32V|GRM1_ENST00000355289.4_Missense_Mutation_p.A32V|GRM1_ENST00000507907.1_Missense_Mutation_p.A32V|GRM1_ENST00000492807.2_Missense_Mutation_p.A32V|GRM1_ENST00000361719.2_Missense_Mutation_p.A32V	p.A32V			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	2	565	+		Ovarian(120;0.0387)	32					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.95C>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.725366	0.48833	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.87966	-2.29;-2.32;-2.32;-2.29;-2.32;-2.32	5.57	4.66	0.58398	.	0.228739	0.45606	D	0.000346	T	0.75496	0.3857	L	0.31752	0.955	0.47245	D	0.99936	P;P;P;P	0.45768	0.777;0.509;0.819;0.866	B;B;B;B	0.39465	0.3;0.134;0.158;0.3	T	0.79259	-0.1877	10	0.45353	T	0.12	.	18.0581	0.89369	0.0:0.8696:0.1304:0.0	.	32;32;27;32	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	V	32	ENSP00000354896:A32V;ENSP00000376119:A32V;ENSP00000424095:A32V;ENSP00000282753:A32V;ENSP00000347437:A32V;ENSP00000425599:A32V	ENSP00000282753:A32V	A	+	2	0	GRM1	146392441	1.000000	0.71417	0.967000	0.41034	0.862000	0.49288	3.838000	0.55828	2.619000	0.88677	0.561000	0.74099	GCG		0.582	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		59	99	0	0	0	1	0	59	99					T	146350748	C	T	146350748	3	4	248	1	0	0	0	0	1	0	0	0	6796	768	27	1	97	1	GRM1	6	146350748	Missense_Mutation	SNP	C	TCGA-EL-A3ZM-01A-12D-A23M-08	9842550	146350748	24764319	12	5335											
WBSCR28	135886	broad.mit.edu	37	chr7	73279335	73279335	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgcagttggttcagaacCgagatcacctctataatttc	7	10	4	2			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr7:73279335C>T	ENST00000320531.2	+	2	121	c.85C>T	c.(85-87)Cga>Tga	p.R29*		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	29						integral component of membrane (GO:0016021)		p.R29I(1)		breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				GGTTCAGAACCGAGATCACCT	0.507																																						ENST00000320531.2																			1	Substitution - Missense(1)	p.R29I(1)	lung(1)	breast(2)|kidney(2)|lung(6)|skin(1)	11						c.(85-87)Cga>Tga		Williams-Beuren syndrome chromosome region 28							300	308	305					7																	73279335		1913	4126	6039	SO:0001587	stop_gained	135886					integral to membrane		g.chr7:73279335C>T	BC030643	CCDS43597.1	7q11.23	2006-07-04			ENSG00000175877	ENSG00000175877			23018	protein-coding gene	gene with protein product		612547				8812460	Standard	NM_182504		Approved	MGC26719	uc003tzk.2	Q6UE05	OTTHUMG00000157243	ENST00000320531.2:c.85C>T	7.37:g.73279335C>T	ENSP00000316775:p.Arg29*						p.R29*	NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN			2	121	+		Lung NSC(55;0.159)	29					Q6UE04|Q8NHP4	Nonsense_Mutation	SNP	ENST00000320531.2	37	c.85C>T	CCDS43597.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632711	0.67015	.	.	ENSG00000175877	ENST00000320531	.	.	.	4.43	4.43	0.53597	.	0.000000	0.40222	N	0.001159	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-31.8465	12.4753	0.55809	0.0:1.0:0.0:0.0	.	.	.	.	X	29	.	ENSP00000316775:R29X	R	+	1	2	WBSCR28	72917271	1.000000	0.71417	0.989000	0.46669	0.464000	0.32679	1.845000	0.39279	2.335000	0.79485	0.555000	0.69702	CGA		0.507	WBSCR28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348130.1	NM_182504		114	560	0	0	0	1	0	114	560					T	73279335	C	T	73279335	4	4	248	1	0	0	0	0	0	1	0	0	17264	644	23	1	91	1	WBSCR28	7	73279335	Nonsense_Mutation	SNP	C	TCGA-EL-A3ZM-01A-12D-A23M-08		73279335	85859328	13	5336											
FBXO24	26261	broad.mit.edu	37	chr7	100192027	100192027	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggaaagatctactcttTggtagtgaatgagacccagc	12	7	2	3			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr7:100192027T>C	ENST00000241071.6	+	6	1137	c.815T>C	c.(814-816)tTg>tCg	p.L272S	FBXO24_ENST00000465843.1_Missense_Mutation_p.L258S|FBXO24_ENST00000468962.1_Missense_Mutation_p.L260S|FBXO24_ENST00000427939.2_Missense_Mutation_p.L310S|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000360609.2_Missense_Mutation_p.L258S|PCOLCE-AS1_ENST00000544873.1_RNA	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	272					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ATCTACTCTTTGGTAGTGAAT	0.557																																						ENST00000241071.6																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28						c.(814-816)tTg>tCg		F-box protein 24							108	101	103					7																	100192027		2203	4300	6503	SO:0001583	missense	26261					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr7:100192027T>C	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"F-boxes /  "other""	13595	protein-coding gene	gene with protein product		609097	"F-box only protein 24"			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.815T>C	7.37:g.100192027T>C	ENSP00000241071:p.Leu272Ser					PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Missense_Mutation_p.L310S|FBXO24_ENST00000468962.1_Missense_Mutation_p.L260S|FBXO24_ENST00000360609.2_Missense_Mutation_p.L258S|FBXO24_ENST00000465843.1_Missense_Mutation_p.L258S|PCOLCE-AS1_ENST00000544873.1_RNA	p.L272S	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN			6	1137	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		272					A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	ENST00000241071.6	37	c.815T>C	CCDS5698.1	.	.	.	.	.	.	.	.	.	.	T	16.17	3.046474	0.55110	.	.	ENSG00000106336	ENST00000241071;ENST00000360609;ENST00000465843;ENST00000468962;ENST00000427939	T;T;T;T;T	0.80480	-1.38;0.18;0.18;-1.38;-1.38	4.73	4.73	0.59995	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.49916	D	0.000139	T	0.67552	0.2905	N	0.08118	0	0.45015	D	0.998036	P;P;P;P	0.48407	0.91;0.91;0.91;0.573	P;P;P;B	0.45099	0.469;0.469;0.469;0.23	T	0.74734	-0.3565	10	0.72032	D	0.01	-3.9157	12.5216	0.56062	0.0:0.0:0.0:1.0	.	260;310;272;258	B4DY42;B4DX91;O75426;O75426-2	.;.;FBX24_HUMAN;.	S	272;258;258;260;310	ENSP00000241071:L272S;ENSP00000353821:L258S;ENSP00000419602:L258S;ENSP00000420239:L260S;ENSP00000416558:L310S	ENSP00000241071:L272S	L	+	2	0	FBXO24	100029963	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	4.684000	0.61686	2.137000	0.66172	0.392000	0.25879	TTG		0.557	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			35	78	0	0	0	1	0	35	78					C	100192027	T	C	100192027	3	2	248	1	0	0	0	0	1	0	0	0	5735	1821	63	3	994	3	FBXO24	7	100192027	Missense_Mutation	SNP	T	TCGA-EL-A3ZM-01A-12D-A23M-08	26912692	100192027	58946636	14	5337											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		47	31	0	0	0	1	0	47	31					T	140453136	A	T	140453136	3	4	248	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3ZM-01A-12D-A23M-08	40261109	140453136	18685527	15	5338											
SLC25A37	51312	broad.mit.edu	37	chr8	23429210	23429210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggtatggccaatgccttcCggacggtgtaccagctcaac	12	13	1	0			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr8:23429210C>T	ENST00000519973.1	+	4	1057	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W	FP15737_ENST00000399967.3_5'Flank	NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	287					iron ion homeostasis (GO:0055072)|mitochondrial iron ion transport (GO:0048250)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	iron ion transmembrane transporter activity (GO:0005381)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		CAATGCCTTCCGGACGGTGTA	0.607																																						ENST00000519973.1																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15						c.(859-861)Cgg>Tgg		solute carrier family 25 (mitochondrial iron transporter), member 37							31	34	33					8																	23429210		1971	4138	6109	SO:0001583	missense	51312				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane		g.chr8:23429210C>T	AF495725	CCDS47828.1	8p21.2	2013-05-22	2012-03-29		ENSG00000147454	ENSG00000147454		"Solute carriers"	29786	protein-coding gene	gene with protein product	"mitoferrin"	610387	"solute carrier family 25, member 37"			16511496	Standard	XM_006716352		Approved	MSCP, MFRN, MFRN1	uc003xdo.3	Q9NYZ2	OTTHUMG00000163865	ENST00000519973.1:c.859C>T	8.37:g.23429210C>T	ENSP00000429200:p.Arg287Trp						p.R287W	NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)	4	1057	+		Prostate(55;0.114)	287					A2RU93|Q53FT7|Q69YJ8|Q969S1|Q9P0J2	Missense_Mutation	SNP	ENST00000519973.1	37	c.859C>T	CCDS47828.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696408	0.68386	.	.	ENSG00000147454	ENST00000519973	T	0.80909	-1.43	5.8	4.92	0.64577	Mitochondrial carrier domain (2);	0.051108	0.85682	D	0.000000	D	0.91188	0.7224	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.92845	0.6292	10	0.87932	D	0	-9.8826	13.573	0.61858	0.2817:0.7183:0.0:0.0	.	287	Q9NYZ2	MFRN1_HUMAN	W	287	ENSP00000429200:R287W	ENSP00000429200:R287W	R	+	1	2	SLC25A37	23485155	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.615000	0.24329	1.436000	0.47453	0.650000	0.86243	CGG		0.607	SLC25A37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376039.1	NM_016612		11	33	0	0	0	1	0	11	33					T	23429210	C	T	23429210	3	4	248	1	0	0	0	0	1	0	0	0	14501	643	23	1	873	1	SLC25A37	8	23429210	Missense_Mutation	SNP	C	TCGA-EL-A3ZM-01A-12D-A23M-08		23429210	122934812	16	5339											
NPBWR1	2831	broad.mit.edu	37	chr8	53852926	53852926	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtggccggccgcacctacagCgccgcgcgcgcggtgagcct	16	17	0	1			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr8:53852926C>A	ENST00000331251.3	+	1	1936	c.459C>A	c.(457-459)agC>agA	p.S153R		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	153					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)|regulation of metabolic process (GO:0019222)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				GCACCTACAGCGCCGCGCGCG	0.711																																						ENST00000331251.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17						c.(457-459)agC>agA		neuropeptides B/W receptor 1							14	16	15					8																	53852926		2172	4244	6416	SO:0001583	missense	2831				synaptic transmission	plasma membrane	opioid receptor activity|protein binding	g.chr8:53852926C>A	BC033145	CCDS6151.1	8p22-q21.13	2012-08-08	2006-02-15	2006-02-15		ENSG00000183729		"GPCR / Class A : Neuropeptide receptors : W/B"	4522	protein-coding gene	gene with protein product		600730	"G protein-coupled receptor 7"	GPR7		7590751, 12401809	Standard	NM_005285		Approved		uc011ldu.2	P48145		ENST00000331251.3:c.459C>A	8.37:g.53852926C>A	ENSP00000330284:p.Ser153Arg						p.S153R	NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN			1	1936	+		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)	153					Q6NTC7	Missense_Mutation	SNP	ENST00000331251.3	37	c.459C>A	CCDS6151.1	.	.	.	.	.	.	.	.	.	.	C	3.580	-0.085825	0.07097	.	.	ENSG00000183729	ENST00000331251	T	0.32753	1.44	5.06	2.01	0.26516	GPCR, rhodopsin-like superfamily (1);	0.453060	0.17675	N	0.165829	T	0.05135	0.0137	N	0.00298	-1.69	0.26585	N	0.973301	B	0.02656	0.0	B	0.04013	0.001	T	0.38824	-0.9643	10	0.02654	T	1	.	3.9022	0.09166	0.183:0.3773:0.3531:0.0867	.	153	P48145	NPBW1_HUMAN	R	153	ENSP00000330284:S153R	ENSP00000330284:S153R	S	+	3	2	NPBWR1	54015479	0.924000	0.31332	0.666000	0.29783	0.975000	0.68041	-0.052000	0.11865	0.655000	0.30866	0.655000	0.94253	AGC		0.711	NPBWR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378047.1	NM_005285		4	19	1	0	0.150653	1	0.150653	4	19					A	53852926	C	A	53852926	3	1	248	1	0	0	0	0	1	0	0	0	10568	767	27	4	461	4	NPBWR1	8	53852926	Missense_Mutation	SNP	C	TCGA-EL-A3ZM-01A-12D-A23M-08	30423716	53852926	92511096	17	5340											
RALYL	138046	broad.mit.edu	37	chr8	85097248	85097248	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcgcaatgagtaaacgacgCagtaggtcctacccagccta	9	12	0	1			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr8:85097248C>A	ENST00000521268.1	+	1	1082				RALYL_ENST00000518566.1_Intron|RALYL_ENST00000522455.1_Intron|RALYL_ENST00000517638.1_Splice_Site_p.R5R|RALYL_ENST00000521695.1_Intron	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like								nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GTAAACGACGCAGTAGGTCCT	0.522																																						ENST00000517638.1																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						c.e1+1		RALY RNA binding protein-like							102	110	107					8																	85097248		2101	4231	6332	SO:0001627	intron_variant	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85097248C>A		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"RNA binding motif (RRM) containing"	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.-24+589C>A	8.37:g.85097248C>A						RALYL_ENST00000522455.1_Intron|RALYL_ENST00000521695.1_Intron|RALYL_ENST00000518566.1_Intron|RALYL_ENST00000521268.1_Intron	p.R5_splice	NM_001100391.1	NP_001093861.1	Q86SE5	RALYL_HUMAN			1	139	+			0					B3KTH2|G3V129|Q6ZW87|Q8N1C2	Splice_Site	SNP	ENST00000521268.1	37	c.16_splice	CCDS55253.1																																																																																				0.522	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1			20	35	1	0	3.51602e-12	1	4.05694e-12	20	35					A	85097248	C	A	85097248	1	1	248	0	1	0	0	0	0	0	0	0	13020	724	25	4		4	RALYL	8	85097248	Intron	SNP	C	TCGA-EL-A3ZM-01A-12D-A23M-08	31244322	85097248	61266774	18	5341											
CNTN5	53942	broad.mit.edu	37	chr11	99827594	99827594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttgtggcggaagacagcCggcggttcatctcccaggag	14	12	2	1	rs190220140	byFrequency	TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr11:99827594C>T	ENST00000524871.1	+	8	1020	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	CNTN5_ENST00000528682.1_Missense_Mutation_p.R244W|CNTN5_ENST00000527185.1_Missense_Mutation_p.R244W|CNTN5_ENST00000279463.3_Missense_Mutation_p.R244W|CNTN5_ENST00000418526.2_Missense_Mutation_p.R170W	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	244	Ig-like C2-type 2.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GGAAGACAGCCGGCGGTTCAT	0.403													C|||	3	0.000599042	0	0	5008	,	,		15060	0.001		0	False		,,,				2504	0.002					ENST00000524871.1																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(730-732)Cgg>Tgg		contactin 5							90	85	87					11																	99827594		1844	4083	5927	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99827594C>T	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.730C>T	11.37:g.99827594C>T	ENSP00000435637:p.Arg244Trp					CNTN5_ENST00000527185.1_Missense_Mutation_p.R244W|CNTN5_ENST00000279463.3_Missense_Mutation_p.R244W|CNTN5_ENST00000418526.2_Missense_Mutation_p.R170W|CNTN5_ENST00000528682.1_Missense_Mutation_p.R244W	p.R244W	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	8	1020	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	244			Ig-like C2-type 2.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.730C>T	CCDS53696.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	20.8	4.057752	0.76074	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57	5.47	5.47	0.80525	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.062577	0.64402	D	0.000004	D	0.94364	0.8188	H	0.97874	4.095	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	0.95775	0.8812	10	0.87932	D	0	.	14.1978	0.65682	0.159:0.841:0.0:0.0	.	244;170;244	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	W	244;244;244;170;244	ENSP00000433575:R244W;ENSP00000436185:R244W;ENSP00000435637:R244W;ENSP00000393229:R170W;ENSP00000279463:R244W	ENSP00000279463:R244W	R	+	1	2	CNTN5	99332804	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.468000	0.60162	2.711000	0.92665	0.585000	0.79938	CGG		0.403	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		12	33	0	0	0	1	0	12	33					T	99827594	C	T	99827594	3	4	248	1	0	0	0	0	1	0	0	0	3644	643	23	1	752	1	CNTN5	11	99827594	Missense_Mutation	SNP	C	TCGA-EL-A3ZM-01A-12D-A23M-08		99827594	35178922	19	5342											
GNB3	2784	broad.mit.edu	37	chr12	6954899	6954899	+	Frame_Shift_Del	DEL	C	C	-													gccttctccctcagtggccgCctactattcgctggctacga							TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr12:6954899delC	ENST00000229264.3	+	10	1254	c.849delC	c.(847-849)cgcfs	p.R283fs	CDCA3_ENST00000604599.1_5'UTR|CDCA3_ENST00000422785.3_3'UTR|GNB3_ENST00000435982.2_Frame_Shift_Del_p.R282fs	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	283					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						TCAGTGGCCGCCTACTATTCG	0.602																																						ENST00000229264.3																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						c.(847-849)cgfs		guanine nucleotide binding protein (G protein), beta polypeptide 3							176	167	170					12																	6954899		2203	4300	6503	SO:0001589	frameshift_variant	2784				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr12:6954899delC		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"WD repeat domain containing"	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.849delC	12.37:g.6954899delC	ENSP00000229264:p.Arg283fs					CDCA3_ENST00000422785.3_3'UTR|GNB3_ENST00000435982.2_Frame_Shift_Del_p.R282fs|CDCA3_ENST00000604599.1_5'UTR	p.R283fs	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN			10	1254	+			283					Q96B71|Q9BQC0	Frame_Shift_Del	DEL	ENST00000229264.3	37	c.849delC	CCDS8564.1																																																																																				0.602	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075		55	166						55	166	---	---	---	---	-	6954899	C	-	6954899	7	5	248	1	0	1	0	1	0	0	0	0	6519	726	26	0	879	0	GNB3	12	6954899	Frame_Shift_Del	DEL	C	TCGA-EL-A3ZM-01A-12D-A23M-08		6954899	126896996	20	5343											
TPCN1	53373	broad.mit.edu	37	chr12	113707646	113707646	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcatgatcatctttgccatCctcggtgagttcccgcctct	7	14	4	2			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr12:113707646C>T	ENST00000335509.6	+	7	1058	c.744C>T	c.(742-744)atC>atT	p.I248I	TPCN1_ENST00000541517.1_Silent_p.I320I|TPCN1_ENST00000550785.1_Silent_p.I320I|TPCN1_ENST00000392569.4_Silent_p.I180I	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	248					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TCTTTGCCATCCTCGGTGAGT	0.567																																						ENST00000550785.1																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(958-960)atC>atT		two pore segment channel 1							122	95	104					12																	113707646		2203	4300	6503	SO:0001819	synonymous_variant	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113707646C>T	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"Voltage-gated ion channels / Two-pore channels"	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.744C>T	12.37:g.113707646C>T						TPCN1_ENST00000541517.1_Silent_p.I320I|TPCN1_ENST00000392569.4_Silent_p.I180I|TPCN1_ENST00000335509.6_Silent_p.I248I	p.I320I	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN			8	1129	+			248					A7E258|Q86XS9|Q8NC20	Silent	SNP	ENST00000335509.6	37	c.960C>T	CCDS31908.1																																																																																				0.567	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		18	74	0	0	0	1	0	18	74					T	113707646	C	T	113707646	2	4	248	1	0	0	0	0	0	0	0	1	16392	845	30	2		2	TPCN1	12	113707646	Silent	SNP	C	TCGA-EL-A3ZM-01A-12D-A23M-08	106752747	113707646	20144249	21	5344											
THAP10	56906	broad.mit.edu	37	chr15	71184271	71184271	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatgcctggctgcctggagcTctcctcgcgtgtccaggcgg	14	14	1	0			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr15:71184271T>A	ENST00000249861.4	-	1	853	c.341A>T	c.(340-342)gAg>gTg	p.E114V	LRRC49_ENST00000443425.2_5'Flank|LRRC49_ENST00000260382.5_5'Flank|LRRC49_ENST00000544974.2_Intron|LRRC49_ENST00000560369.1_5'Flank	NM_020147.3	NP_064532.1	Q9P2Z0	THA10_HUMAN	THAP domain containing 10	114							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|kidney(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TGCCTGGAGCTCTCCTCGCGT	0.682																																						ENST00000249861.4																			0				NS(1)|kidney(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(340-342)gAg>gTg		THAP domain containing 10							34	35	35					15																	71184271		2199	4297	6496	SO:0001583	missense	56906						DNA binding|metal ion binding	g.chr15:71184271T>A	AL360202	CCDS10237.1	15q22.32	2013-01-25			ENSG00000129028	ENSG00000129028		"THAP (C2CH-type zinc finger) domain containing"	23193	protein-coding gene	gene with protein product		612538				12575992	Standard	NM_020147		Approved		uc002asv.3	Q9P2Z0	OTTHUMG00000133388	ENST00000249861.4:c.341A>T	15.37:g.71184271T>A	ENSP00000249861:p.Glu114Val					LRRC49_ENST00000544974.2_Intron	p.E114V	NM_020147.3	NP_064532.1	Q9P2Z0	THA10_HUMAN			1	853	-			114					B2R8R0	Missense_Mutation	SNP	ENST00000249861.4	37	c.341A>T	CCDS10237.1	.	.	.	.	.	.	.	.	.	.	T	7.777	0.708763	0.15239	.	.	ENSG00000129028	ENST00000249861	.	.	.	2.23	-1.76	0.08006	.	.	.	.	.	T	0.14614	0.0353	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.17806	-1.0357	8	0.33141	T	0.24	.	2.804	0.05422	0.0:0.2855:0.2489:0.4656	.	114	Q9P2Z0	THA10_HUMAN	V	114	.	ENSP00000249861:E114V	E	-	2	0	THAP10	68971325	0.000000	0.05858	0.000000	0.03702	0.088000	0.18126	-0.713000	0.05007	-0.618000	0.05656	-0.429000	0.05907	GAG		0.682	THAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257242.2	NM_020147		13	10	0	0	0	1	0	13	10					A	71184271	T	A	71184271	3	1	248	1	0	0	0	0	1	0	0	0	15839	1551	54	5	444	5	THAP10	15	71184271	Missense_Mutation	SNP	T	TCGA-EL-A3ZM-01A-12D-A23M-08		71184271	31347121	22	5345											
BTBD12	84464	broad.mit.edu	37	chr16	3633188	3633188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcgtcatcattgaggcctGgaggtgcctccttggtgggc	17	10	2	1			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr16:3633188G>A	ENST00000294008.3	-	14	5703	c.5063C>T	c.(5062-5064)cCa>cTa	p.P1688L	RP11-461A8.1_ENST00000573982.1_lincRNA	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1688	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						ATTGAGGCCTGGAGGTGCCTC	0.587								Direct reversal of damage																														ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(5062-5064)cCa>cTa	Direct reversal of damage	SLX4 structure-specific endonuclease subunit							148	134	139					16																	3633188		2197	4300	6497	SO:0001583	missense	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3633188G>A	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.5063C>T	16.37:g.3633188G>A	ENSP00000294008:p.Pro1688Leu					RP11-461A8.1_ENST00000573982.1_lincRNA	p.P1688L	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			14	5703	-			1688			Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.5063C>T	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	G	7.547	0.661994	0.14645	.	.	ENSG00000188827	ENST00000294008	T	0.01106	5.33	5.21	-3.95	0.04118	.	1.642900	0.03452	N	0.210897	T	0.00552	0.0018	N	0.01668	-0.77	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.47535	-0.9110	10	0.06099	T	0.92	.	8.8271	0.35061	0.6106:0.1123:0.2771:0.0	.	1688	Q8IY92	SLX4_HUMAN	L	1688	ENSP00000294008:P1688L	ENSP00000294008:P1688L	P	-	2	0	SLX4	3573189	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.931000	0.03967	-0.705000	0.05035	0.655000	0.94253	CCA		0.587	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		44	60	0	0	0	1	0	44	60					A	3633188	G	A	3633188	3	1	248	1	0	0	0	0	1	0	0	0	1540	1348	47	2	449	2	BTBD12	16	3633188	Missense_Mutation	SNP	G	TCGA-EL-A3ZM-01A-12D-A23M-08		3633188	86721565	23	5346											
SETD1A	9739	broad.mit.edu	37	chr16	30970090	30970090	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggagatgggcagaaggcccCgagcttccagtggcggaact	17	10	0	2			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr16:30970090C>G	ENST00000262519.8	+	2	724	c.38C>G	c.(37-39)cCg>cGg	p.P13R		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	13					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						CAGAAGGCCCCGAGCTTCCAG	0.577																																						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.(37-39)cCg>cGg		SET domain containing 1A							102	99	100					16																	30970090		2197	4300	6497	SO:0001583	missense	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.chr16:30970090C>G	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.38C>G	16.37:g.30970090C>G	ENSP00000262519:p.Pro13Arg						p.P13R	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			2	724	+			13					A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.38C>G	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.952574	0.53293	.	.	ENSG00000099381	ENST00000262519;ENST00000452917;ENST00000449974	D	0.93247	-3.19	5.1	5.1	0.69264	.	0.199282	0.33938	U	0.004414	D	0.92004	0.7467	N	0.16790	0.44	0.34100	D	0.661803	D	0.71674	0.998	P	0.58210	0.835	D	0.94788	0.7959	10	0.54805	T	0.06	.	15.45	0.75265	0.0:1.0:0.0:0.0	.	13	O15047	SET1A_HUMAN	R	13	ENSP00000262519:P13R	ENSP00000262519:P13R	P	+	2	0	SETD1A	30877591	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.932000	0.63476	2.369000	0.80426	0.655000	0.94253	CCG		0.577	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		19	84	0	0	0	1	0	19	84					G	30970090	C	G	30970090	3	3	248	1	0	0	0	0	1	0	0	0	14130	652	23	4	40	4	SETD1A	16	30970090	Missense_Mutation	SNP	C	TCGA-EL-A3ZM-01A-12D-A23M-08	27336902	30970090	59384663	24	5347											
SCARF1	8578	broad.mit.edu	37	chr17	1538386	1538386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcttgaccttggcttccGcctggcctttctggaagcta	9	15	2	1	rs144425748		TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr17:1538386G>A	ENST00000263071.4	-	11	2208	c.2159C>T	c.(2158-2160)gCg>gTg	p.A720V	SCARF1_ENST00000571272.1_3'UTR|SCARF1_ENST00000348987.3_Missense_Mutation_p.A634V	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	720	Gly-rich.				cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)	p.A720E(1)		cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTTGGCTTCCGCCTGGCCTTT	0.632													G|||	1	0.000199681	0	0.0014	5008	,	,		17511	0		0	False		,,,				2504	0					ENST00000263071.4																			1	Substitution - Missense(1)	p.A720E(1)	endometrium(1)	cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2158-2160)gCg>gTg		scavenger receptor class F, member 1			VAL/ALA,,VAL/ALA	0,4406		0,0,2203	34	33	33		2159,,1901	1.8	0.7	17	dbSNP_134	33	19,8581	13.3+/-46.6	0,19,4281	yes	missense,utr-3,missense	SCARF1	NM_003693.2,NM_145350.1,NM_145352.2	64,,64	0,19,6484	AA,AG,GG		0.2209,0.0,0.1461	possibly-damaging,,possibly-damaging	720/831,,634/745	1538386	19,12987	2203	4300	6503	SO:0001583	missense	8578				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity	g.chr17:1538386G>A	D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"scavenger receptor expressed by endothelial cells", "acetyl LDL receptor"	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.2159C>T	17.37:g.1538386G>A	ENSP00000263071:p.Ala720Val					SCARF1_ENST00000571272.1_3'UTR|SCARF1_ENST00000348987.3_Missense_Mutation_p.A634V	p.A720V	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	11	2208	-			720			Gly-rich.		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	ENST00000263071.4	37	c.2159C>T	CCDS11007.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	g	12.26	1.885058	0.33255	0.0	0.002209	ENSG00000074660	ENST00000263071;ENST00000348987	T;T	0.21543	2.0;2.67	5.13	1.83	0.25207	.	0.649781	0.12604	N	0.454407	T	0.17662	0.0424	M	0.63428	1.95	0.09310	N	1	P;P	0.52170	0.951;0.918	B;B	0.40134	0.32;0.264	T	0.24154	-1.0168	10	0.52906	T	0.07	-0.0666	2.1548	0.03809	0.157:0.1202:0.4504:0.2724	.	634;720	Q14162-2;Q14162	.;SREC_HUMAN	V	720;634	ENSP00000263071:A720V;ENSP00000323964:A634V	ENSP00000263071:A720V	A	-	2	0	SCARF1	1485136	0.997000	0.39634	0.653000	0.29593	0.559000	0.35586	1.056000	0.30480	0.501000	0.28013	0.550000	0.68814	GCG		0.632	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693		5	34	0	0	0	1	0	5	34					A	1538386	G	A	1538386	3	1	248	1	0	0	0	0	1	0	0	0	13883	1087	38	1	337	1	SCARF1	17	1538386	Missense_Mutation	SNP	G	TCGA-EL-A3ZM-01A-12D-A23M-08		1538386	79656824	25	5348											
ZNF594	84622	broad.mit.edu	37	chr17	5085881	5085881	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctggtgaattttctgctcTcccctaagctcctcatcctg	6	15	3	1			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr17:5085881T>C	ENST00000399604.4	-	1	1811	c.1671A>G	c.(1669-1671)ggA>ggG	p.G557G	ZNF594_ENST00000575779.1_Silent_p.G557G			Q96JF6	ZN594_HUMAN	zinc finger protein 594	557					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(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TTTTCTGCTCTCCCCTAAGCT	0.473																																						ENST00000399604.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(1669-1671)ggA>ggG		zinc finger protein 594							139	122	128					17																	5085881		2004	4208	6212	SO:0001819	synonymous_variant	84622				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:5085881T>C	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"Zinc fingers, C2H2-type"	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.1671A>G	17.37:g.5085881T>C						ZNF594_ENST00000575779.1_Silent_p.G557G	p.G557G			Q96JF6	ZN594_HUMAN			1	1811	-			557					Q6RFS0	Silent	SNP	ENST00000399604.4	37	c.1671A>G	CCDS42241.1																																																																																				0.473	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		7	95	0	0	0	1	0	7	95					C	5085881	T	C	5085881	2	2	248	1	0	0	0	0	0	0	0	1	18021	1538	54	3		3	ZNF594	17	5085881	Silent	SNP	T	TCGA-EL-A3ZM-01A-12D-A23M-08	3547495	5085881	76109329	26	5349											
ZNF286B	729288	broad.mit.edu	37	chr17	18565373	18565373	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagttctctgatgttgaatAagagctgatgaatgaatgaa	11	3	1	8			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr17:18565373A>G	ENST00000545289.1	-	5	1696	c.1446T>C	c.(1444-1446)ctT>ctC	p.L482L	ZNF286B_ENST00000285274.5_3'UTR	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	482					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(1)	2						GATGTTGAATAAGAGCTGATG	0.388																																						ENST00000545289.1																			0				endometrium(1)|lung(1)	2						c.(1444-1446)ctT>ctC		zinc finger protein 286B							164	151	155					17																	18565373		692	1591	2283	SO:0001819	synonymous_variant	729288				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:18565373A>G		CCDS58523.1	17p11.2	2013-01-08			ENSG00000249459	ENSG00000249459		"Zinc fingers, C2H2-type"	33241	protein-coding gene	gene with protein product	"zinc finger protein 590"		"zinc finger protein 286-like", "zinc finger 286C pseudogene"	ZNF286L, ZNF286C			Standard	NM_001145045		Approved	ZNF590	uc010vyd.1	P0CG31	OTTHUMG00000178136	ENST00000545289.1:c.1446T>C	17.37:g.18565373A>G							p.L482L	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN			5	1696	-			482						Silent	SNP	ENST00000545289.1	37	c.1446T>C	CCDS58523.1																																																																																				0.388	ZNF286B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_001723047		4	34	0	0	0	1	0	4	34					G	18565373	A	G	18565373	2	3	248	1	0	0	0	0	0	0	0	1	17821	349	13	3		3	ZNF286B	17	18565373	Silent	SNP	A	TCGA-EL-A3ZM-01A-12D-A23M-08	13479492	18565373	62629837	27	5350											
DOCK6	57572	broad.mit.edu	37	chr19	11319762	11319762	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gccgaaggtccggtgagcccTggtagccccgggcaattctg	15	13	1	1			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr19:11319762T>A	ENST00000294618.7	-	38	4780	c.4769A>T	c.(4768-4770)cAg>cTg	p.Q1590L	CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Missense_Mutation_p.Q929L	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1590	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CGGTGAGCCCTGGTAGCCCCG	0.657																																						ENST00000294618.7																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						c.(4768-4770)cAg>cTg		dedicator of cytokinesis 6							18	23	21					19																	11319762		1988	4150	6138	SO:0001583	missense	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11319762T>A		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.4769A>T	19.37:g.11319762T>A	ENSP00000294618:p.Gln1590Leu					CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Missense_Mutation_p.Q929L	p.Q1590L	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN			38	4780	-			1590			DHR-2.		A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	c.4769A>T	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	t	23.5	4.419321	0.83559	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.25250	2.55;1.81	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.53433	0.1796	M	0.85373	2.75	0.80722	D	1	D;P	0.67145	0.996;0.754	D;P	0.67900	0.954;0.476	T	0.62006	-0.6945	10	0.87932	D	0	-34.6928	13.9587	0.64166	0.0:0.0:0.0:1.0	.	929;1590	C9IZV6;Q96HP0	.;DOCK6_HUMAN	L	1590;929	ENSP00000294618:Q1590L;ENSP00000321556:Q929L	ENSP00000294618:Q1590L	Q	-	2	0	DOCK6	11180762	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	7.824000	0.86668	2.014000	0.59158	0.529000	0.55759	CAG		0.657	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		9	7	0	0	0	1	0	9	7					A	11319762	T	A	11319762	3	1	248	1	0	0	0	0	1	0	0	0	4691	1580	55	5	1418	5	DOCK6	19	11319762	Missense_Mutation	SNP	T	TCGA-EL-A3ZM-01A-12D-A23M-08		11319762	47809221	28	5351											
ZSCAN5A	79149	broad.mit.edu	37	chr19	56733610	56733610	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcttctctctccacaacGcaggcagaaggtgtgtcagc	11	12	3	1			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr19:56733610G>A	ENST00000587340.1	-	7	1520	c.825C>T	c.(823-825)tgC>tgT	p.C275C	ZSCAN5A_ENST00000391713.1_Silent_p.C275C|ZSCAN5A_ENST00000592355.1_Silent_p.C274C|ZSCAN5A_ENST00000587492.1_Silent_p.C129C|ZSCAN5A_ENST00000254165.3_Silent_p.C158C			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	275					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCTCCACAACGCAGGCAGAAG	0.527																																						ENST00000587340.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(823-825)tgC>tgT		zinc finger and SCAN domain containing 5A							107	107	107					19																	56733610		2203	4298	6501	SO:0001819	synonymous_variant	79149				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56733610G>A	AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"-", "Zinc fingers, C2H2-type"	23710	protein-coding gene	gene with protein product			"zinc finger protein 495", "zinc finger and SCAN domain containing 5"	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.825C>T	19.37:g.56733610G>A						ZSCAN5A_ENST00000587492.1_Silent_p.C129C|ZSCAN5A_ENST00000592355.1_Silent_p.C274C|ZSCAN5A_ENST00000254165.3_Silent_p.C158C|ZSCAN5A_ENST00000391713.1_Silent_p.C275C	p.C275C			Q9BUG6	ZSA5A_HUMAN			7	1520	-			275					B4DX98|Q49A73|Q53F04|Q8N7B3	Silent	SNP	ENST00000587340.1	37	c.825C>T	CCDS12941.1																																																																																				0.527	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1	NM_024303		20	101	0	0	0	1	0	20	101					A	56733610	G	A	56733610	2	1	248	1	0	0	0	0	0	0	0	1	18235	1079	38	1		1	ZSCAN5A	19	56733610	Silent	SNP	G	TCGA-EL-A3ZM-01A-12D-A23M-08	45413848	56733610	2395373	29	5352											
AP1B1	162	broad.mit.edu	37	chr22	29737521	29737521	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtggcaggctcttgtgcaCgacgccccggcccccctcca	12	18	1	0	rs149960917	byFrequency	TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr22:29737521C>T	ENST00000405198.1	-	12	1796	c.1765G>A	c.(1765-1767)Gtg>Atg	p.V589M	AP1B1_ENST00000317368.7_Missense_Mutation_p.V589M|AP1B1_ENST00000357586.2_Missense_Mutation_p.V589M|AP1B1_ENST00000415447.1_Missense_Mutation_p.V589M|AP1B1_ENST00000472057.1_5'Flank|AP1B1_ENST00000402502.1_Missense_Mutation_p.V589M|AP1B1_ENST00000432560.2_Missense_Mutation_p.V589M|AP1B1_ENST00000356015.2_Missense_Mutation_p.V589M			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	589	Pro-rich (stalk region).				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTCTTGTGCACGACGCCCCGG	0.627													C|||	3	0.000599042	0	0	5008	,	,		17989	0		0.003	False		,,,				2504	0					ENST00000357586.2																			0				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1765-1767)Gtg>Atg		adaptor-related protein complex 1, beta 1 subunit		C	MET/VAL,MET/VAL,MET/VAL	1,4405	4.2+/-10.8	0,1,2202	65	57	59		1765,1765,1765	5.6	1.0	22	dbSNP_134	59	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense	AP1B1	NM_001127.3,NM_001166019.1,NM_145730.2	21,21,21	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	benign,benign,benign	589/950,589/920,589/940	29737521	5,13001	2203	4300	6503	SO:0001583	missense	162				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	g.chr22:29737521C>T	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.1765G>A	22.37:g.29737521C>T	ENSP00000384194:p.Val589Met					AP1B1_ENST00000317368.7_Missense_Mutation_p.V589M|AP1B1_ENST00000432560.2_Missense_Mutation_p.V589M|AP1B1_ENST00000356015.2_Missense_Mutation_p.V589M|AP1B1_ENST00000415447.1_Missense_Mutation_p.V589M|AP1B1_ENST00000405198.1_Missense_Mutation_p.V589M|AP1B1_ENST00000402502.1_Missense_Mutation_p.V589M	p.V589M	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN			13	1951	-			589			Pro-rich (stalk region).		C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	ENST00000405198.1	37	c.1765G>A	CCDS13855.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	15.67	2.901625	0.52227	2.27E-4	4.65E-4	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447	T;T;T;T;T;T;T	0.24538	1.9;1.89;1.88;1.9;1.85;1.88;1.88	5.6	5.6	0.85130	.	0.173853	0.51477	D	0.000091	T	0.24699	0.0599	L	0.50333	1.59	0.42524	D	0.993015	P;B;B;B;B	0.37525	0.598;0.169;0.303;0.201;0.426	B;B;B;B;B	0.34931	0.139;0.128;0.128;0.06;0.192	T	0.02546	-1.1143	10	0.32370	T	0.25	-24.1456	14.6413	0.68726	0.0:0.8535:0.1465:0.0	.	142;589;589;589;589	B4DS79;F8WDL0;Q10567-2;Q10567;Q10567-3	.;.;.;AP1B1_HUMAN;.	M	589	ENSP00000350199:V589M;ENSP00000348297:V589M;ENSP00000400065:V589M;ENSP00000384194:V589M;ENSP00000319361:V589M;ENSP00000386071:V589M;ENSP00000387612:V589M	ENSP00000319361:V589M	V	-	1	0	AP1B1	28067521	0.999000	0.42202	0.959000	0.39883	0.922000	0.55478	3.490000	0.53245	2.629000	0.89072	0.655000	0.94253	GTG		0.627	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127		7	61	0	0	0	1	0	7	61					T	29737521	C	T	29737521	3	4	248	1	0	0	0	0	1	0	0	0	731	536	19	1	1128	1	AP1B1	22	29737521	Missense_Mutation	SNP	C	TCGA-EL-A3ZM-01A-12D-A23M-08		29737521	21567045	30	5353											
TMPRSS6	164656	broad.mit.edu	37	chr22	37485776	37485776	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gccaggtggtcaggccccttCagccggaggacctggccctg	15	15	2	0			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr22:37485776C>T	ENST00000346753.3	-	7	821	c.705G>A	c.(703-705)ctG>ctA	p.L235L	TMPRSS6_ENST00000406725.1_Silent_p.L226L|TMPRSS6_ENST00000381792.2_Silent_p.L226L|TMPRSS6_ENST00000406856.1_Silent_p.L226L|TMPRSS6_ENST00000442782.2_Silent_p.L235L	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	235	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.		L -> P (in IRIDA; does not undergo proteolytic processing; loss of activity). {ECO:0000269|PubMed:22581667}.		angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CAGGCCCCTTCAGCCGGAGGA	0.667																																						ENST00000381792.2																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(676-678)ctG>ctA		transmembrane protease, serine 6							19	20	20					22																	37485776		2203	4298	6501	SO:0001819	synonymous_variant	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37485776C>T	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"Serine peptidases / Transmembrane"	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.705G>A	22.37:g.37485776C>T						TMPRSS6_ENST00000406725.1_Silent_p.L226L|TMPRSS6_ENST00000406856.1_Silent_p.L226L|TMPRSS6_ENST00000346753.3_Silent_p.L235L|TMPRSS6_ENST00000442782.2_Silent_p.L235L	p.L226L			Q8IU80	TMPS6_HUMAN			7	818	-			235			CUB 1.		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Silent	SNP	ENST00000346753.3	37	c.678G>A	CCDS13941.1																																																																																				0.667	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		4	12	0	0	0	1	0	4	12					T	37485776	C	T	37485776	2	4	248	1	0	0	0	0	0	0	0	1	16248	813	29	2		2	TMPRSS6	22	37485776	Silent	SNP	C	TCGA-EL-A3ZM-01A-12D-A23M-08	7748255	37485776	13818790	31	5354											
SFRS17A	8227	broad.mit.edu	37	chrX	1714353	1714353	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagaggcagaagcttcaggAactggagcagcaaagagaag	16	6	1	3			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chrX:1714353A>C	ENST00000313871.3	+	3	1035	c.839A>C	c.(838-840)gAa>gCa	p.E280A	AKAP17A_ENST00000381261.3_Missense_Mutation_p.E280A	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	280					B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						AAGCTTCAGGAACTGGAGCAG	0.527																																						ENST00000313871.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						c.(838-840)gAa>gCa		A kinase (PRKA) anchor protein 17A							252	268	262					X																	1714353		2203	4296	6499	SO:0001583	missense	8227				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chrX:1714353A>C	L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"Pseudoautosomal regions / PAR1", "A-kinase anchor proteins"	18783	protein-coding gene	gene with protein product		312095, 465000	"chromosome X and Y open reading frame 3", "splicing factor, arginine/serine-rich 17A"	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.839A>C	X.37:g.1714353A>C	ENSP00000324827:p.Glu280Ala					AKAP17A_ENST00000381261.3_Missense_Mutation_p.E280A	p.E280A	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN			3	1035	+			280					Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Missense_Mutation	SNP	ENST00000313871.3	37	c.839A>C	CCDS14116.1	.	.	.	.	.	.	.	.	.	.	a	2.147	-0.395430	0.04899	.	.	ENSG00000197976	ENST00000313871;ENST00000381261	T;T	0.60920	1.47;0.15	2.43	1.18	0.20946	.	0.000000	0.64402	U	0.000001	T	0.47967	0.1474	.	.	.	0.09310	N	1	P;P	0.47962	0.684;0.903	B;P	0.52554	0.376;0.702	T	0.44034	-0.9354	9	0.08837	T	0.75	.	7.242	0.26102	0.8812:0.0:0.1188:0.0	.	280;280	Q02040-3;Q02040	.;AK17A_HUMAN	A	280	ENSP00000324827:E280A;ENSP00000370660:E280A	ENSP00000324827:E280A	E	+	2	0	AKAP17A	1674353	1.000000	0.71417	0.009000	0.14445	0.404000	0.30871	6.187000	0.72039	0.012000	0.14892	0.084000	0.15446	GAA		0.527	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2	NM_005088		54	148	0	0	0	1	0	54	148					C	1714353	A	C	1714353	3	2	248	1	0	0	0	0	1	0	0	0	14173	246	9	5	845	5	SFRS17A	23	1714353	Missense_Mutation	SNP	A	TCGA-EL-A3ZM-01A-12D-A23M-08		1714353	153556207	32	5355											
CENPI	2491	broad.mit.edu	37	chrX	100382593	100382593	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgtctgaatagaagtggatCatttccactagaacaacttc	7	8	2	3			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chrX:100382593C>T	ENST00000372927.1	+	10	1290	c.1013C>T	c.(1012-1014)tCa>tTa	p.S338L	CENPI_ENST00000218507.5_Missense_Mutation_p.S338L|CENPI_ENST00000423383.1_Missense_Mutation_p.S338L|CENPI_ENST00000372926.1_Missense_Mutation_p.S338L	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	338					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)		p.S338L(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						AGAAGTGGATCATTTCCACTA	0.378																																						ENST00000372927.1																			1	Substitution - Missense(1)	p.S338L(1)	lung(1)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						c.(1012-1014)tCa>tTa		centromere protein I							117	109	112					X																	100382593		2203	4300	6503	SO:0001583	missense	2491				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	g.chrX:100382593C>T	X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"FSH primary response (LRPR1, rat) homolog 1", "FSH primary response (LRPR1 homolog, rat) 1"	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.1013C>T	X.37:g.100382593C>T	ENSP00000362018:p.Ser338Leu					CENPI_ENST00000423383.1_Missense_Mutation_p.S338L|CENPI_ENST00000218507.5_Missense_Mutation_p.S338L|CENPI_ENST00000372926.1_Missense_Mutation_p.S338L	p.S338L	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN			10	1290	+			338					Q5JWZ9|Q96ED0	Missense_Mutation	SNP	ENST00000372927.1	37	c.1013C>T	CCDS14479.1	.	.	.	.	.	.	.	.	.	.	c	8.544	0.874039	0.17395	.	.	ENSG00000102384	ENST00000423383;ENST00000218507;ENST00000372926;ENST00000372927	.	.	.	5.4	4.54	0.55810	.	0.644562	0.16760	N	0.200667	T	0.46112	0.1376	M	0.70595	2.14	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.17098	0.017;0.017	T	0.35649	-0.9780	9	0.23302	T	0.38	-1.1598	10.8434	0.46728	0.0:0.844:0.0:0.156	.	338;338	B4DZL4;Q92674	.;CENPI_HUMAN	L	338	.	ENSP00000218507:S338L	S	+	2	0	CENPI	100269249	0.000000	0.05858	0.063000	0.19743	0.216000	0.24613	0.450000	0.21762	1.170000	0.42753	0.594000	0.82650	TCA		0.378	CENPI-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057519.1	NM_006733		19	47	0	0	0	1	0	19	47					T	100382593	C	T	100382593	3	4	248	1	0	0	0	0	1	0	0	0	3233	838	29	2	1047	2	CENPI	23	100382593	Missense_Mutation	SNP	C	TCGA-EL-A3ZM-01A-12D-A23M-08	98668240	100382593	54887967	33	5356											
FAM162B	221303	broad.mit.edu	37	chr6	117086593	117086593	+	Frame_Shift_Del	DEL	G	G	-													ccttggggcccagaattgctGggggccccgccgctggagta							TCGA-EL-A3ZN-01A-11D-A23M-08	TCGA-EL-A3ZN-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a9cae6-bfb5-44e3-a869-2afeb05d7cb8	5fdac115-dce2-4082-b319-ff754a29233f	g.chr6:117086593delG	ENST00000368557.4	-	1	293	c.147delC	c.(145-147)cccfs	p.P49fs		NM_001085480.2	NP_001078949.1	Q5T6X4	F162B_HUMAN	family with sequence similarity 162, member B	49						integral component of membrane (GO:0016021)				large_intestine(2)|lung(4)	6						CAGAATTGCTGGGGGCCCCGC	0.771																																						ENST00000368557.4																			0				large_intestine(2)|lung(4)	6						c.(145-147)ccfs		family with sequence similarity 162, member B							3	4	4					6																	117086593		1649	3784	5433	SO:0001589	frameshift_variant	221303					integral to membrane		g.chr6:117086593delG	BC038997	CCDS43497.1	6q22.31	2014-01-28	2008-06-05	2008-06-05	ENSG00000183807	ENSG00000183807			21549	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 189"	C6orf189			Standard	NM_001085480		Approved	bA86F4.2	uc003pxi.2	Q5T6X4	OTTHUMG00000015446	ENST00000368557.4:c.147delC	6.37:g.117086593delG	ENSP00000357545:p.Pro49fs						p.P49fs	NM_001085480.2	NP_001078949.1	Q5T6X4	F162B_HUMAN			1	293	-			49					Q8IXW8	Frame_Shift_Del	DEL	ENST00000368557.4	37	c.147delC	CCDS43497.1																																																																																				0.771	FAM162B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041965.1	XM_927381		2	4						2	4	---	---	---	---	-	117086593	G	-	117086593	7	5	249	1	0	1	0	1	0	0	0	0	5475	1335	47	0	357	0	FAM162B	6	117086593	Frame_Shift_Del	DEL	G	TCGA-EL-A3ZN-01A-11D-A23M-08		117086593	54028474	1	5357											
ZNF679	168417	broad.mit.edu	37	chr7	63727074	63727074	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagagaaaccctacaaatgtAaagaatgtgggaaagccttt	10	6	0	2			TCGA-EL-A3ZN-01A-11D-A23M-08	TCGA-EL-A3ZN-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a9cae6-bfb5-44e3-a869-2afeb05d7cb8	5fdac115-dce2-4082-b319-ff754a29233f	g.chr7:63727074A>G	ENST00000421025.1	+	5	1332	c.1063A>G	c.(1063-1065)Aaa>Gaa	p.K355E	ZNF679_ENST00000255746.4_Missense_Mutation_p.K355E	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	355					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(3)|lung(11)|skin(1)|stomach(1)	18						CTACAAATGTAAAGAATGTGG	0.398																																						ENST00000421025.1																			0				endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						c.(1063-1065)Aaa>Gaa		zinc finger protein 679							50	50	50					7																	63727074		692	1591	2283	SO:0001583	missense	168417				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63727074A>G	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"Zinc fingers, C2H2-type", "-"	28650	protein-coding gene	gene with protein product	"hypothetical protein MGC42415"					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.1063A>G	7.37:g.63727074A>G	ENSP00000416809:p.Lys355Glu					ZNF679_ENST00000255746.4_Missense_Mutation_p.K355E	p.K355E	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN			5	1332	+			355						Missense_Mutation	SNP	ENST00000421025.1	37	c.1063A>G	CCDS47592.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.503461	0.00010	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	T;T	0.08370	3.1;3.1	0.859	-1.72	0.08107	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02012	0.0063	N	0.01800	-0.715	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39603	-0.9606	9	0.02654	T	1	.	2.8269	0.05488	0.505:0.254:0.241:0.0	.	355	Q8IYX0	ZN679_HUMAN	E	355	ENSP00000416809:K355E;ENSP00000255746:K355E	ENSP00000255746:K355E	K	+	1	0	ZNF679	63364509	0.000000	0.05858	0.393000	0.26258	0.393000	0.30537	-7.766000	0.00030	-1.173000	0.02758	-1.193000	0.01689	AAA		0.398	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		3	21	0	0	0	1	0	3	21					G	63727074	A	G	63727074	3	3	249	1	0	0	0	0	1	0	0	0	18083	363	13	3	1077	3	ZNF679	7	63727074	Missense_Mutation	SNP	A	TCGA-EL-A3ZN-01A-11D-A23M-08		63727074	95411589	2	5358											
MUC5B	727897	broad.mit.edu	37	chr11	1268402	1268402	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacctgcagccaccagcaGcacagtgactccctcctctg	7	19	1	1			TCGA-EL-A3ZN-01A-11D-A23M-08	TCGA-EL-A3ZN-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a9cae6-bfb5-44e3-a869-2afeb05d7cb8	5fdac115-dce2-4082-b319-ff754a29233f	g.chr11:1268402G>A	ENST00000529681.1	+	31	10350	c.10292G>A	c.(10291-10293)aGc>aAc	p.S3431N	MUC5B_ENST00000447027.1_Missense_Mutation_p.S3434N|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3431	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.S3410N(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		gccaccagcagcacAGTGACT	0.682																																						ENST00000447027.1																			1	Substitution - Missense(1)	p.S3410N(1)	prostate(1)	cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(10300-10302)aGc>aAc		mucin 5B, oligomeric mucus/gel-forming							41	76	64					11																	1268402		2093	4144	6237	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1268402G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10292G>A	11.37:g.1268402G>A	ENSP00000436812:p.Ser3431Asn					MUC5B_ENST00000529681.1_Missense_Mutation_p.S3431N|RP11-532E4.2_ENST00000532061.2_RNA	p.S3434N			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	10359	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3431	Missing (in Ref. 6; AAB61398).		17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.10301G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	3.121	-0.180464	0.06380	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637	T;T	0.20598	2.06;2.24	2.38	-2.65	0.06095	.	.	.	.	.	T	0.11965	0.0291	L	0.29908	0.895	0.09310	N	1	B	0.11235	0.004	B	0.01281	0.0	T	0.31888	-0.9927	9	0.87932	D	0	.	2.2793	0.04110	0.1745:0.3567:0.3457:0.1231	.	3434	E9PBJ0	.	N	3431;3434;3403	ENSP00000436812:S3431N;ENSP00000415793:S3434N	ENSP00000343037:S3403N	S	+	2	0	MUC5B	1224978	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.426000	0.02443	-0.630000	0.05567	-0.714000	0.03626	AGC		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		3	16	0	0	0	1	0	3	16					A	1268402	G	A	1268402	3	1	249	1	0	0	0	0	1	0	0	0	9979	971	34	2	10423	2	MUC5B	11	1268402	Missense_Mutation	SNP	G	TCGA-EL-A3ZN-01A-11D-A23M-08		1268402	133738114	3	5359											
PGR	5241	broad.mit.edu	37	chr11	100922214	100922214	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccactgacgtgtttgtaggaTctccatcctagaccaaacac	7	13	1	2			TCGA-EL-A3ZN-01A-11D-A23M-08	TCGA-EL-A3ZN-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a9cae6-bfb5-44e3-a869-2afeb05d7cb8	5fdac115-dce2-4082-b319-ff754a29233f	g.chr11:100922214T>C	ENST00000325455.5	-	5	3751	c.2298A>G	c.(2296-2298)agA>agG	p.R766R	PGR_ENST00000263463.5_Silent_p.R664R|PGR_ENST00000534013.1_Silent_p.R172R	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	766	Steroid-binding.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|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 binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	GTTTGTAGGATCTCCATCCTA	0.343																																					Pancreas(124;2271 2354 21954 22882)	ENST00000325455.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36						c.(2296-2298)agA>agG		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						126	123	124					11																	100922214		2203	4300	6503	SO:0001819	synonymous_variant	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100922214T>C	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"Nuclear hormone receptors"	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.2298A>G	11.37:g.100922214T>C						PGR_ENST00000263463.5_Silent_p.R664R|PGR_ENST00000534013.1_Silent_p.R172R	p.R766R	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	5	3751	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	766			Steroid-binding.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Silent	SNP	ENST00000325455.5	37	c.2298A>G	CCDS8310.1																																																																																				0.343	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			24	45	0	0	0	1	0	24	45					C	100922214	T	C	100922214	2	2	249	1	0	0	0	0	0	0	0	1	11805	1432	50	3		3	PGR	11	100922214	Silent	SNP	T	TCGA-EL-A3ZN-01A-11D-A23M-08	99653812	100922214	34084302	4	5360											
KIAA1683	80726	broad.mit.edu	37	chr19	18368857	18368857	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccaggacgcagcacccctGgctggctcccatgcgcggtt	12	17	0	0			TCGA-EL-A3ZN-01A-11D-A23M-08	TCGA-EL-A3ZN-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a9cae6-bfb5-44e3-a869-2afeb05d7cb8	5fdac115-dce2-4082-b319-ff754a29233f	g.chr19:18368857G>A	ENST00000600328.3	-	4	2869	c.2676C>T	c.(2674-2676)gcC>gcT	p.A892A	KIAA1683_ENST00000600359.3_Silent_p.A846A|PDE4C_ENST00000596647.1_5'Flank|KIAA1683_ENST00000392413.4_Silent_p.A1079A|PDE4C_ENST00000355502.3_5'Flank			Q9H0B3	K1683_HUMAN	KIAA1683	892						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CAGCACCCCTGGCTGGCTCCC	0.657																																						ENST00000392413.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3235-3237)gcC>gcT		KIAA1683							62	62	62					19																	18368857		2202	4294	6496	SO:0001819	synonymous_variant	80726					mitochondrion		g.chr19:18368857G>A	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.2676C>T	19.37:g.18368857G>A						KIAA1683_ENST00000600359.2_Silent_p.A846A|KIAA1683_ENST00000600328.2_Silent_p.A892A	p.A1079A	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN			4	3452	-			1090					B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Silent	SNP	ENST00000600328.3	37	c.3237C>T	CCDS32958.1																																																																																				0.657	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			48	123	0	0	0	1	0	48	123					A	18368857	G	A	18368857	2	1	249	1	0	0	0	0	0	0	0	1	8251	1335	47	2		2	KIAA1683	19	18368857	Silent	SNP	G	TCGA-EL-A3ZN-01A-11D-A23M-08		18368857	40760126	5	5361											
PDIK1L	149420	broad.mit.edu	37	chr1	26448486	26448486	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	accagcttcatgcttcagctGagcagtgccctggctttctt	9	13	3	1			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr1:26448486G>C	ENST00000374271.4	+	4	731	c.444G>C	c.(442-444)ctG>ctC	p.L148L	PDIK1L_ENST00000374269.1_Silent_p.L148L	NM_001243532.1|NM_001243533.1|NM_152835.4	NP_001230461.1|NP_001230462.1|NP_690048.1	Q8N165	PDK1L_HUMAN	PDLIM1 interacting kinase 1 like	148	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTTCAGCTGAGCAGTGCCC	0.438																																						ENST00000374271.4																			0				large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	7						c.(442-444)ctG>ctC		PDLIM1 interacting kinase 1 like							119	118	119					1																	26448486		2203	4300	6503	SO:0001819	synonymous_variant	149420					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr1:26448486G>C	AF411102	CCDS274.1	1p35.1	2008-02-05			ENSG00000175087	ENSG00000175087			18981	protein-coding gene	gene with protein product		610785				14631099	Standard	NM_152835		Approved	CLIK1L	uc009vsb.3	Q8N165	OTTHUMG00000007511	ENST00000374271.4:c.444G>C	1.37:g.26448486G>C						PDIK1L_ENST00000374269.1_Silent_p.L148L	p.L148L	NM_001243532.1|NM_001243533.1|NM_152835.4	NP_001230461.1|NP_001230462.1|NP_690048.1	Q8N165	PDK1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)	4	731	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)	148			Protein kinase.		B2R777|D3DPK2|Q5T2I0|Q8NDB3	Silent	SNP	ENST00000374271.4	37	c.444G>C	CCDS274.1																																																																																				0.438	PDIK1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019752.1	NM_152835		17	109	0	0	0	1	0	17	109					C	26448486	G	C	26448486	2	2	250	1	0	0	0	0	0	0	0	1	11673	1277	45	4		4	PDIK1L	1	26448486	Silent	SNP	G	TCGA-EL-A3ZO-01A-11D-A23M-08		26448486	222802135	1	5362											
FAM46B	115572	broad.mit.edu	37	chr1	27333107	27333107	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctcaccgagtccacaaacttGagctccacgttcttgccgct	7	16	2	1			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr1:27333107G>C	ENST00000289166.5	-	2	771	c.606C>G	c.(604-606)ctC>ctG	p.L202L		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	202										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		CCACAAACTTGAGCTCCACGT	0.542																																						ENST00000289166.5																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10						c.(604-606)ctC>ctG		family with sequence similarity 46, member B							125	121	123					1																	27333107		2203	4300	6503	SO:0001819	synonymous_variant	115572							g.chr1:27333107G>C	AK122816	CCDS294.2	1p35.3	2008-02-05			ENSG00000158246	ENSG00000158246			28273	protein-coding gene	gene with protein product						12477932	Standard	NM_052943		Approved	MGC16491	uc010ofj.2	Q96A09	OTTHUMG00000004278	ENST00000289166.5:c.606C>G	1.37:g.27333107G>C							p.L202L	NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)	2	771	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	202						Silent	SNP	ENST00000289166.5	37	c.606C>G	CCDS294.2																																																																																				0.542	FAM46B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012347.2	NM_052943		19	132	0	0	0	1	0	19	132					C	27333107	G	C	27333107	2	2	250	1	0	0	0	0	0	0	0	1	5566	1277	45	4		4	FAM46B	1	27333107	Silent	SNP	G	TCGA-EL-A3ZO-01A-11D-A23M-08	884621	27333107	221917514	2	5363											
HPDL	84842	broad.mit.edu	37	chr1	45793409	45793409	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cgctgagcccaggtgaggatCccgagctgggcctcgaaatg	15	12	0	2			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr1:45793409C>G	ENST00000334815.3	+	1	865	c.589C>G	c.(589-591)Ccc>Gcc	p.P197A		NM_032756.2	NP_116145.1	Q96IR7	HPDL_HUMAN	4-hydroxyphenylpyruvate dioxygenase-like	197					aromatic amino acid family metabolic process (GO:0009072)		4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(166;0.155)					AGGTGAGGATCCCGAGCTGGG	0.642																																						ENST00000334815.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(589-591)Ccc>Gcc		4-hydroxyphenylpyruvate dioxygenase-like							31	33	32					1																	45793409		2203	4299	6502	SO:0001583	missense	84842				aromatic amino acid family metabolic process		4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding	g.chr1:45793409C>G	BC007293	CCDS519.1	1p34.1	2008-02-05	2007-03-14	2007-03-14	ENSG00000186603	ENSG00000186603			28242	protein-coding gene	gene with protein product			"glyoxalase domain containing 1"	GLOXD1		12477932	Standard	NM_032756		Approved	MGC15668, 4-HPPD-L	uc001cne.3	Q96IR7	OTTHUMG00000007681	ENST00000334815.3:c.589C>G	1.37:g.45793409C>G	ENSP00000335060:p.Pro197Ala						p.P197A	NM_032756.2	NP_116145.1	Q96IR7	HPDL_HUMAN			1	865	+	Acute lymphoblastic leukemia(166;0.155)		197					B2R9B0	Missense_Mutation	SNP	ENST00000334815.3	37	c.589C>G	CCDS519.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.480681	0.26598	.	.	ENSG00000186603	ENST00000334815	T	0.57752	0.38	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000003	T	0.60612	0.2282	M	0.69823	2.125	0.39784	D	0.972344	P	0.41313	0.745	P	0.46076	0.503	T	0.65857	-0.6066	10	0.56958	D	0.05	-35.2041	15.3355	0.74250	0.0:0.8602:0.1398:0.0	.	197	Q96IR7	HPDL_HUMAN	A	197	ENSP00000335060:P197A	ENSP00000335060:P197A	P	+	1	0	HPDL	45565996	0.962000	0.33011	1.000000	0.80357	0.814000	0.46013	1.379000	0.34340	2.712000	0.92718	0.561000	0.74099	CCC		0.642	HPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020527.1	NM_032756		11	99	0	0	0	1	0	11	99					G	45793409	C	G	45793409	3	3	250	1	0	0	0	0	1	0	0	0	7333	855	30	4	591	4	HPDL	1	45793409	Missense_Mutation	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08	18460302	45793409	203457212	3	5364											
CDC7	8317	broad.mit.edu	37	chr1	91985807	91985807	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tatgacaattaggggatccaGagaaactatccaagctgcta	9	8	0	2			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr1:91985807G>C	ENST00000428239.1	+	11	1560	c.1301G>C	c.(1300-1302)aGa>aCa	p.R434T	CDC7_ENST00000430031.2_Missense_Mutation_p.R406T|CDC7_ENST00000234626.6_Missense_Mutation_p.R434T	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	434	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		AGGGGATCCAGAGAAACTATC	0.328																																						ENST00000428239.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23						c.(1300-1302)aGa>aCa		cell division cycle 7							91	91	91					1																	91985807		2203	4300	6503	SO:0001583	missense	8317				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:91985807G>C	AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1", "CDC7 cell division cycle 7 (S. cerevisiae)", "cell division cycle 7 (S. cerevisiae)", "cell division cycle 7 homolog (S. cerevisiae)"	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.1301G>C	1.37:g.91985807G>C	ENSP00000393139:p.Arg434Thr					CDC7_ENST00000234626.6_Missense_Mutation_p.R434T|CDC7_ENST00000430031.2_Missense_Mutation_p.R406T	p.R434T	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)	11	1560	+		all_lung(203;0.0165)|Lung NSC(277;0.0562)	434			Protein kinase.		D3DT31|O00558|Q5T5U5	Missense_Mutation	SNP	ENST00000428239.1	37	c.1301G>C	CCDS734.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.798508	0.50208	.	.	ENSG00000097046	ENST00000430031;ENST00000234626;ENST00000428239	T;T;T	0.64991	-0.13;-0.13;-0.13	5.69	0.492	0.16872	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.137365	0.64402	N	0.000004	T	0.41026	0.1141	N	0.16656	0.425	0.38240	D	0.941286	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.984	T	0.37244	-0.9714	10	0.23891	T	0.37	-23.4554	5.4648	0.16637	0.266:0.2457:0.4883:0.0	.	406;434	B7Z5H7;O00311	.;CDC7_HUMAN	T	406;434;434	ENSP00000407477:R406T;ENSP00000234626:R434T;ENSP00000393139:R434T	ENSP00000234626:R434T	R	+	2	0	CDC7	91758395	1.000000	0.71417	0.978000	0.43139	0.977000	0.68977	2.023000	0.41040	-0.148000	0.11234	0.455000	0.32223	AGA		0.328	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027928.1	NM_003503		6	52	0	0	0	1	0	6	52					C	91985807	G	C	91985807	3	2	250	1	0	0	0	0	1	0	0	0	3084	942	33	4	1339	4	CDC7	1	91985807	Missense_Mutation	SNP	G	TCGA-EL-A3ZO-01A-11D-A23M-08	46192398	91985807	157264814	4	5365											
ITGA10	8515	broad.mit.edu	37	chr1	145537478	145537478	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aagtgctggtatctacaactCtggagaacagaaaggaaaat	10	6	2	2			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr1:145537478C>G	ENST00000369304.3	+	20	2663	c.2488C>G	c.(2488-2490)Ctg>Gtg	p.L830V	ITGA10_ENST00000538811.1_Missense_Mutation_p.L699V|ITGA10_ENST00000539363.1_Missense_Mutation_p.L687V	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	830					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATCTACAACTCTGGAGAACAG	0.522																																						ENST00000369304.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(2488-2490)Ctg>Gtg		integrin, alpha 10							190	201	197					1																	145537478		2203	4300	6503	SO:0001583	missense	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145537478C>G	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"Integrins"	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.2488C>G	1.37:g.145537478C>G	ENSP00000358310:p.Leu830Val					ITGA10_ENST00000539363.1_Missense_Mutation_p.L687V|ITGA10_ENST00000538811.1_Missense_Mutation_p.L699V	p.L830V	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN			20	2663	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		830					B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	c.2488C>G	CCDS918.1	.	.	.	.	.	.	.	.	.	.	C	6.277	0.419235	0.11870	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.37411	1.2;1.2;1.2	4.97	3.1	0.35709	Integrin alpha-2 (1);	0.187567	0.36815	N	0.002397	T	0.21387	0.0515	L	0.31476	0.935	0.39790	D	0.972427	D;P;D;D	0.76494	0.966;0.924;0.985;0.999	P;P;P;D	0.75484	0.872;0.665;0.883;0.986	T	0.17379	-1.0371	10	0.10636	T	0.68	.	4.4717	0.11715	0.1759:0.6411:0.0:0.183	.	796;699;687;830	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	V	830;796;687;699	ENSP00000358310:L830V;ENSP00000439894:L687V;ENSP00000440011:L699V	ENSP00000358310:L830V	L	+	1	2	ITGA10	144248835	0.988000	0.35896	0.846000	0.33378	0.210000	0.24377	2.802000	0.47916	0.696000	0.31696	0.655000	0.94253	CTG		0.522	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		41	450	0	0	0	1	0	41	450					G	145537478	C	G	145537478	3	3	250	1	0	0	0	0	1	0	0	0	7873	912	32	4	2566	4	ITGA10	1	145537478	Missense_Mutation	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08	53551671	145537478	103713143	5	5366											
RAG1AP1	55974	broad.mit.edu	37	chr1	155110531	155110531	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tacccttctcacctctgcctCctggtgcctctatgggtttc	7	16	3	0			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr1:155110531C>G	ENST00000368404.4	+	5	583	c.521C>G	c.(520-522)tCc>tGc	p.S174C	SLC50A1_ENST00000368401.5_Missense_Mutation_p.S119C|SLC50A1_ENST00000484157.1_Missense_Mutation_p.S109C|SLC50A1_ENST00000303343.8_Missense_Mutation_p.S120C|SLC50A1_ENST00000368405.3_3'UTR	NM_018845.3	NP_061333.2	Q9BRV3	SWET1_HUMAN	solute carrier family 50 (sugar efflux transporter), member 1	174	Mediates interaction with TRPV2. {ECO:0000250}.|MtN3/slv 2.				carbohydrate transport (GO:0008643)|DNA recombination (GO:0006310)|glucoside transport (GO:0042946)|positive regulation of gene expression, epigenetic (GO:0045815)	endomembrane system (GO:0012505)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucoside transmembrane transporter activity (GO:0042947)			endometrium(1)|lung(1)|ovary(1)|skin(1)	4						ACCTCTGCCTCCTGGTGCCTC	0.502																																						ENST00000368404.4																			0				endometrium(1)|lung(1)|ovary(1)|skin(1)	4						c.(520-522)tCc>tGc		solute carrier family 50 (sugar efflux transporter), member 1							172	150	158					1																	155110531		2203	4300	6503	SO:0001583	missense	55974				positive regulation of gene expression, epigenetic	Golgi membrane|integral to membrane|plasma membrane	glucoside transmembrane transporter activity	g.chr1:155110531C>G	AF126023, AF126024	CCDS1093.1, CCDS44238.1, CCDS44239.1, CCDS72929.1, CCDS72930.1	1q22	2013-07-17	2013-07-17	2010-11-30	ENSG00000169241	ENSG00000169241		"Solute carriers"	30657	protein-coding gene	gene with protein product	"stromal cell protein"	613683	"recombination activating gene 1 activating protein 1"	RAG1AP1		21107422	Standard	NM_018845		Approved	SCP, RP11-540D14.5, slv, RZPDo834D038D, HsSWEET1, SWEET1	uc001fhj.4	Q9BRV3	OTTHUMG00000035333	ENST00000368404.4:c.521C>G	1.37:g.155110531C>G	ENSP00000357389:p.Ser174Cys					SLC50A1_ENST00000484157.1_Missense_Mutation_p.S109C|SLC50A1_ENST00000368405.3_3'UTR|SLC50A1_ENST00000368401.5_Missense_Mutation_p.S119C|SLC50A1_ENST00000303343.8_Missense_Mutation_p.S120C	p.S174C	NM_018845.3	NP_061333.2	Q9BRV3	SWET1_HUMAN			5	583	+			174			Mediates interaction with TRPV2 (By similarity).|MtN3/slv 2.		Q5SR64|Q6IAK6|Q96DC5|Q9UHQ2|Q9UHQ3	Missense_Mutation	SNP	ENST00000368404.4	37	c.521C>G	CCDS1093.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.724363	0.48728	.	.	ENSG00000169241	ENST00000484157;ENST00000303343;ENST00000368404;ENST00000368401	.	.	.	4.97	4.03	0.46877	.	0.051961	0.85682	N	0.000000	T	0.48314	0.1493	M	0.76433	2.335	0.51767	D	0.999938	P;B;B	0.39737	0.685;0.39;0.444	B;B;B	0.43052	0.406;0.34;0.261	T	0.51044	-0.8755	9	0.33141	T	0.24	-10.5073	12.8259	0.57718	0.0:0.7899:0.2101:0.0	.	120;119;174	Q9BRV3-3;Q9BRV3-2;Q9BRV3	.;.;SWET1_HUMAN	C	109;120;174;119	.	ENSP00000306146:S120C	S	+	2	0	SLC50A1	153377155	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	3.587000	0.53957	1.353000	0.45828	0.655000	0.94253	TCC		0.502	SLC50A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085505.1	NM_018845		10	138	0	0	0	1	0	10	138					G	155110531	C	G	155110531	3	3	250	1	0	0	0	0	1	0	0	0	13004	855	30	4	539	4	RAG1AP1	1	155110531	Missense_Mutation	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08	9573053	155110531	94140090	6	5367											
ARHGEF2	9181	broad.mit.edu	37	chr1	155931629	155931629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccagctgataaataccctCgtccacattggacagcagct	7	14	0	1			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr1:155931629C>T	ENST00000361247.4	-	11	1390	c.1291G>A	c.(1291-1293)Gag>Aag	p.E431K	ARHGEF2_ENST00000368315.4_Missense_Mutation_p.E432K|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.E476K|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.E430K|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.E403K|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.E403K	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	431	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.E403*(1)		breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TAAATACCCTCGTCCACATTG	0.632																																					Melanoma(178;35 2768 6610 28839)	ENST00000368316.1																			1	Substitution - Nonsense(1)	p.E403*(1)	lung(1)	breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40						c.(1207-1209)Gag>Aag		Rho/Rac guanine nucleotide exchange factor (GEF) 2							73	73	73					1																	155931629		2203	4300	6503	SO:0001583	missense	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	g.chr1:155931629C>T	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	682	protein-coding gene	gene with protein product		607560	"rho/rac guanine nucleotide exchange factor (GEF) 2"			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.1291G>A	1.37:g.155931629C>T	ENSP00000354837:p.Glu431Lys					ARHGEF2_ENST00000368315.3_Missense_Mutation_p.E432K|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.E430K|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.E431K|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.E403K	p.E403K			Q92974	ARHG2_HUMAN			15	1677	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		431			DH.		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	c.1207G>A	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	C	1.749	-0.489629	0.04352	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000435736;ENST00000543433;ENST00000313667	T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61	4.86	3.95	0.45737	Dbl homology (DH) domain (5);	0.155125	0.30159	N	0.010263	T	0.25680	0.0625	N	0.15975	0.35	0.22835	N	0.998674	B;B;B;B	0.16396	0.017;0.005;0.001;0.002	B;B;B;B	0.17098	0.017;0.01;0.0;0.006	T	0.14309	-1.0477	10	0.11794	T	0.64	-31.2352	7.0728	0.25187	0.0912:0.1764:0.7323:0.0	.	476;475;431;430	B7Z977;D3DVA5;Q92974;Q92974-2	.;.;ARHG2_HUMAN;.	K	403;431;432;403;476;404;430	ENSP00000315325:E403K;ENSP00000354837:E431K;ENSP00000357298:E432K;ENSP00000357299:E403K;ENSP00000314787:E430K	ENSP00000314787:E430K	E	-	1	0	ARHGEF2	154198253	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	0.913000	0.28611	1.411000	0.46957	-0.197000	0.12766	GAG		0.632	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		10	168	0	0	0	1	0	10	168					T	155931629	C	T	155931629	3	4	250	1	0	0	0	0	1	0	0	0	903	893	31	1	1717	1	ARHGEF2	1	155931629	Missense_Mutation	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08	821098	155931629	93318992	7	5368											
SPTA1	6708	broad.mit.edu	37	chr1	158592868	158592868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcagcagagcggcataacGctcttcaatggctttagact	9	11	3	2	rs374336960		TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr1:158592868G>A	ENST00000368147.4	-	43	6205	c.6025C>T	c.(6025-6027)Cgt>Tgt	p.R2009C		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2009					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCGGCATAACGCTCTTCAATG	0.502																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(6025-6027)Cgt>Tgt		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		G	CYS/ARG	1,3885		0,1,1942	282	282	282		6025	2.8	0.2	1		282	0,8286		0,0,4143	no	missense	SPTA1	NM_003126.2	180	0,1,6085	AA,AG,GG		0.0,0.0257,0.0082	probably-damaging	2009/2420	158592868	1,12171	1943	4143	6086	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158592868G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6025C>T	1.37:g.158592868G>A	ENSP00000357129:p.Arg2009Cys					SPTA1_ENST00000368147.3_Missense_Mutation_p.R2006C|SPTA1_ENST00000461624.1_5'UTR	p.R2009C	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			43	6205	-	all_hematologic(112;0.0378)		2009					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.6025C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.540995	0.45280	2.57E-4	0.0	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.56611	0.45;0.45	4.78	2.81	0.32909	.	.	.	.	.	T	0.61714	0.2369	M	0.80616	2.505	0.50313	D	0.999865	D	0.89917	1.0	D	0.77004	0.989	T	0.66337	-0.5949	9	0.87932	D	0	.	8.537	0.33368	0.083:0.0:0.7658:0.1512	.	2009	P02549	SPTA1_HUMAN	C	2009;2006	ENSP00000357130:R2009C;ENSP00000357129:R2006C	ENSP00000357129:R2006C	R	-	1	0	SPTA1	156859492	1.000000	0.71417	0.188000	0.23233	0.001000	0.01503	7.143000	0.77348	1.239000	0.43787	-0.140000	0.14226	CGT		0.502	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		172	509	0	0	0	1	0	172	509					A	158592868	G	A	158592868	3	1	250	1	0	0	0	0	1	0	0	0	15115	1087	38	1	1274	1	SPTA1	1	158592868	Missense_Mutation	SNP	G	TCGA-EL-A3ZO-01A-11D-A23M-08	2661239	158592868	90657753	8	5369											
IPO9	55705	broad.mit.edu	37	chr1	201843979	201843979	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gatgactccaatgatatgtgGgaggaccaggaggaggaaga	16	5	0	3			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr1:201843979G>C	ENST00000361565.4	+	22	2922	c.2853G>C	c.(2851-2853)tgG>tgC	p.W951C		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	951					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						ATGATATGTGggaggaccagg	0.438																																						ENST00000361565.4																			0				cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(2851-2853)tgG>tgC		importin 9							119	120	119					1																	201843979		2203	4300	6503	SO:0001583	missense	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201843979G>C	AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"Importins"	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.2853G>C	1.37:g.201843979G>C	ENSP00000354742:p.Trp951Cys						p.W951C	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN			22	2922	+			951					B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	ENST00000361565.4	37	c.2853G>C	CCDS1415.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121109	0.56613	.	.	ENSG00000198700	ENST00000361565;ENST00000456707	T	0.66815	-0.23	5.95	5.03	0.67393	Armadillo-type fold (1);	0.103088	0.64402	D	0.000001	T	0.59636	0.2208	N	0.24115	0.695	0.80722	D	1	D	0.54047	0.964	P	0.47626	0.552	T	0.63972	-0.6516	10	0.54805	T	0.06	.	14.2833	0.66228	0.0:0.0:0.85:0.15	.	951	Q96P70	IPO9_HUMAN	C	951;26	ENSP00000354742:W951C	ENSP00000354742:W951C	W	+	3	0	IPO9	200110602	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.632000	0.74281	1.507000	0.48752	-0.181000	0.13052	TGG		0.438	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		16	153	0	0	0	1	0	16	153					C	201843979	G	C	201843979	3	2	250	1	0	0	0	0	1	0	0	0	7799	1241	43	4	2939	4	IPO9	1	201843979	Missense_Mutation	SNP	G	TCGA-EL-A3ZO-01A-11D-A23M-08	43251111	201843979	47406642	9	5370											
LYST	1130	broad.mit.edu	37	chr1	235887339	235887339	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgaatttaccttggtgttatCaaatgccaacaggagtgttc	9	7	1	1			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr1:235887339C>G	ENST00000389794.3	-	39	9478	c.9304G>C	c.(9304-9306)Gat>Cat	p.D3102H	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.D3102H			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3102					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTGGTGTTATCAAATGCCAAC	0.343																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(9304-9306)Gat>Cat		lysosomal trafficking regulator							95	93	94					1																	235887339		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235887339C>G	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.9304G>C	1.37:g.235887339C>G	ENSP00000374444:p.Asp3102His					LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.D3102H	p.D3102H			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		39	9478	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	3102					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.9304G>C	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449648	0.84101	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.62639	0.01;0.01	5.23	5.23	0.72850	PH-BEACH domain (1);	0.000000	0.85682	D	0.000000	T	0.65883	0.2734	N	0.10916	0.065	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.73534	-0.3952	10	0.66056	D	0.02	.	19.1565	0.93511	0.0:1.0:0.0:0.0	.	3102	Q99698	LYST_HUMAN	H	3102	ENSP00000374444:D3102H;ENSP00000374443:D3102H	ENSP00000374443:D3102H	D	-	1	0	LYST	233953962	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.776000	0.85560	2.597000	0.87782	0.460000	0.39030	GAT		0.343	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			5	77	0	0	0	1	0	5	77					G	235887339	C	G	235887339	3	3	250	1	0	0	0	0	1	0	0	0	9128	826	29	4	2161	4	LYST	1	235887339	Missense_Mutation	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08	34043360	235887339	13363282	10	5371											
TCF7L1	83439	broad.mit.edu	37	chr2	85529723	85529723	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cccacccacctctccccagaGatcgatccaaagacaggtaa	6	17	1	2			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr2:85529723G>C	ENST00000282111.3	+	5	917	c.642G>C	c.(640-642)gaG>gaC	p.E214D		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	214	Pro-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						TCTCCCCAGAGATCGATCCAA	0.587																																						ENST00000282111.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						c.(640-642)gaG>gaC		transcription factor 7-like 1 (T-cell specific, HMG-box)							72	76	74					2																	85529723		2203	4300	6503	SO:0001583	missense	83439				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:85529723G>C	X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.642G>C	2.37:g.85529723G>C	ENSP00000282111:p.Glu214Asp						p.E214D	NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN			5	917	+			214			Pro-rich.		Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000282111.3	37	c.642G>C	CCDS1971.1	.	.	.	.	.	.	.	.	.	.	G	6.743	0.505878	0.12883	.	.	ENSG00000152284	ENST00000282111	D	0.98192	-4.78	4.53	3.63	0.41609	CTNNB1 binding, N-teminal (1);	0.116972	0.56097	N	0.000022	D	0.92351	0.7573	N	0.03268	-0.37	0.39289	D	0.964703	P	0.51537	0.946	P	0.45753	0.492	D	0.91659	0.5341	10	0.02654	T	1	.	11.5174	0.50529	0.0:0.0:0.8197:0.1803	.	214	Q9HCS4	TF7L1_HUMAN	D	214	ENSP00000282111:E214D	ENSP00000282111:E214D	E	+	3	2	TCF7L1	85383234	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.556000	0.45862	1.065000	0.40693	0.655000	0.94253	GAG		0.587	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	NM_031283		11	169	0	0	0	1	0	11	169					C	85529723	G	C	85529723	3	2	250	1	0	0	0	0	1	0	0	0	15694	933	33	4	660	4	TCF7L1	2	85529723	Missense_Mutation	SNP	G	TCGA-EL-A3ZO-01A-11D-A23M-08		85529723	157669650	11	5372											
REV1	51455	broad.mit.edu	37	chr2	100079058	100079058	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cgaaactgttcctccaatttCtggaccttggcagccatata	7	12	1	0			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr2:100079058C>G	ENST00000258428.3	-	3	309	c.81G>C	c.(79-81)caG>caC	p.Q27H	REV1_ENST00000393445.3_Missense_Mutation_p.Q27H	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	27					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTCCAATTTCTGGACCTTGG	0.378								Direct reversal of damage																														ENST00000258428.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(79-81)caG>caC	Direct reversal of damage	REV1, polymerase (DNA directed)							115	107	110					2																	100079058		2203	4300	6503	SO:0001583	missense	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100079058C>G	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"DNA polymerases"	14060	protein-coding gene	gene with protein product		606134	"REV1 (yeast homolog)- like", "REV1-like (yeast)", "REV1 homolog (S. cerevisiae)"	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.81G>C	2.37:g.100079058C>G	ENSP00000258428:p.Gln27His					REV1_ENST00000393445.3_Missense_Mutation_p.Q27H	p.Q27H	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN			3	309	-			27					O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	37	c.81G>C	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352060	0.61183	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.31247	1.5;1.5	5.63	4.76	0.60689	BRCT (1);	0.168925	0.53938	D	0.000043	T	0.36303	0.0962	L	0.47716	1.5	0.35932	D	0.83261	P;P;P	0.39094	0.659;0.626;0.606	P;B;P	0.48166	0.569;0.401;0.537	T	0.46498	-0.9187	10	0.45353	T	0.12	.	10.2372	0.43290	0.0:0.84:0.0:0.16	.	6;27;27	Q9UBZ9-3;Q9UBZ9;Q9UBZ9-2	.;REV1_HUMAN;.	H	27	ENSP00000377091:Q27H;ENSP00000258428:Q27H	ENSP00000258428:Q27H	Q	-	3	2	REV1	99445490	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	0.506000	0.22658	1.363000	0.46019	0.655000	0.94253	CAG		0.378	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		10	134	0	0	0	1	0	10	134					G	100079058	C	G	100079058	3	3	250	1	0	0	0	0	1	0	0	0	13239	912	32	4	3758	4	REV1	2	100079058	Missense_Mutation	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08	14549335	100079058	143120315	12	5373											
FHL2	2274	broad.mit.edu	37	chr2	105984158	105984158	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtggcagatgaagcaggtctCatgccagctgctgcccttgt	13	11	1	2			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr2:105984158C>T	ENST00000409807.1	-	4	704	c.370G>A	c.(370-372)Gag>Aag	p.E124K	FHL2_ENST00000336660.5_Missense_Mutation_p.M65I|FHL2_ENST00000409177.1_Missense_Mutation_p.E240K|FHL2_ENST00000393353.3_Missense_Mutation_p.E124K|FHL2_ENST00000344213.4_Missense_Mutation_p.E234K|AC012360.6_ENST00000457290.2_RNA|FHL2_ENST00000393352.3_Missense_Mutation_p.E124K|FHL2_ENST00000408995.1_Missense_Mutation_p.E124K|FHL2_ENST00000358129.4_Missense_Mutation_p.E124K|FHL2_ENST00000322142.8_Missense_Mutation_p.E124K			Q14192	FHL2_HUMAN	four and a half LIM domains 2	124	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				androgen receptor signaling pathway (GO:0030521)|atrial cardiac muscle cell development (GO:0055014)|cellular lipid metabolic process (GO:0044255)|heart trabecula formation (GO:0060347)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle cell development (GO:0055015)	actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|M band (GO:0031430)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Z disc (GO:0030018)	androgen receptor binding (GO:0050681)|identical protein binding (GO:0042802)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						AAGCAGGTCTCATGCCAGCTG	0.522																																						ENST00000409177.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						c.(718-720)Gag>Aag		four and a half LIM domains 2							179	161	167					2																	105984158		2203	4300	6503	SO:0001583	missense	2274				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding	g.chr2:105984158C>T		CCDS2070.1	2q12.2	2014-09-17			ENSG00000115641	ENSG00000115641			3703	protein-coding gene	gene with protein product		602633				8753811	Standard	NM_201557		Approved	SLIM3, DRAL	uc002tcy.3	Q14192	OTTHUMG00000153120	ENST00000409807.1:c.370G>A	2.37:g.105984158C>T	ENSP00000386665:p.Glu124Lys					FHL2_ENST00000393353.3_Missense_Mutation_p.E124K|FHL2_ENST00000408995.1_Missense_Mutation_p.E124K|FHL2_ENST00000358129.4_Missense_Mutation_p.E124K|FHL2_ENST00000336660.5_Missense_Mutation_p.M65I|FHL2_ENST00000393352.3_Missense_Mutation_p.E124K|FHL2_ENST00000344213.4_Missense_Mutation_p.E234K|FHL2_ENST00000409807.1_Missense_Mutation_p.E124K|AC012360.6_ENST00000457290.2_RNA|FHL2_ENST00000322142.8_Missense_Mutation_p.E124K	p.E240K			Q14192	FHL2_HUMAN			4	839	-			124			LIM zinc-binding 4.		Q13229|Q13644|Q2I5I4|Q5TM15|Q9P294	Missense_Mutation	SNP	ENST00000409807.1	37	c.718G>A	CCDS2070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.724609|5.724609	0.96847|0.96847	.|.	.|.	ENSG00000115641|ENSG00000115641	ENST00000409177;ENST00000344213;ENST00000393353;ENST00000393352;ENST00000322142;ENST00000358129;ENST00000409807;ENST00000408995|ENST00000336660	D;D;D;D;D;D;D;D|T	0.87809|0.16897	-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3|2.31	5.59|5.59	5.59|5.59	0.84812|0.84812	Zinc finger, LIM-type (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.26048|0.26048	0.0635|0.0635	L|L	0.31157|0.31157	0.91|0.91	0.40062|0.40062	D|D	0.975905|0.975905	D;D;D;D|.	0.89917|.	1.0;0.995;0.994;1.0|.	D;D;D;D|.	0.85130|.	0.997;0.945;0.964;0.997|.	T|T	0.00888|0.00888	-1.1526|-1.1526	10|7	0.39692|0.49607	T|T	0.17|0.09	.|.	19.5892|19.5892	0.95501|0.95501	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	124;124;234;124|.	Q6I9R8;Q2I5I4;Q2XQU9;Q14192|.	.;.;.;FHL2_HUMAN|.	K|I	124;234;124;124;124;124;124;124|65	ENSP00000386892:E124K;ENSP00000344266:E234K;ENSP00000377021:E124K;ENSP00000377020:E124K;ENSP00000322909:E124K;ENSP00000350846:E124K;ENSP00000386665:E124K;ENSP00000386633:E124K|ENSP00000338270:M65I	ENSP00000322909:E124K|ENSP00000338270:M65I	E|M	-|-	1|3	0|0	FHL2|FHL2	105350590|105350590	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.995000|0.995000	0.86356|0.86356	7.818000|7.818000	0.86416|0.86416	2.619000|2.619000	0.88677|0.88677	0.563000|0.563000	0.77884|0.77884	GAG|ATG		0.522	FHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329654.1			31	139	0	0	0	1	0	31	139					T	105984158	C	T	105984158	3	4	250	1	0	0	0	0	1	0	0	0	5879	835	29	2	481	2	FHL2	2	105984158	Missense_Mutation	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08	5905100	105984158	137215215	13	5374											
LY75	4065	broad.mit.edu	37	chr2	160738665	160738665	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagttttgtgacaaccacctCcacatctgctagagaatgaa	8	10	1	3			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr2:160738665C>T	ENST00000263636.4	-	7	1243	c.1216G>A	c.(1216-1218)Gag>Aag	p.E406K	LY75-CD302_ENST00000504764.1_Missense_Mutation_p.E406K|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.E406K|LY75_ENST00000553424.1_Missense_Mutation_p.E406K|LY75_ENST00000554112.1_Missense_Mutation_p.E406K	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	406	C-type lectin 2. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		ACAACCACCTCCACATCTGCT	0.388																																						ENST00000263636.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(1216-1218)Gag>Aag		lymphocyte antigen 75							124	121	122					2																	160738665		2203	4300	6503	SO:0001583	missense	4065							g.chr2:160738665C>T	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.1216G>A	2.37:g.160738665C>T	ENSP00000263636:p.Glu406Lys					LY75-CD302_ENST00000504764.1_Missense_Mutation_p.E406K|LY75_ENST00000554112.1_Missense_Mutation_p.E406K|LY75_ENST00000553424.1_Missense_Mutation_p.E406K|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.E406K	p.E406K	NM_002349.3	NP_002340.2				COAD - Colon adenocarcinoma(177;0.132)	7	1243	-								O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	c.1216G>A	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250602	0.80135	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25	5.32	5.32	0.75619	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.35646	N	0.003065	T	0.41259	0.1151	L	0.58302	1.8	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	1.0;0.999;1.0;0.995	T	0.14980	-1.0453	10	0.72032	D	0.01	-20.6367	18.9746	0.92730	0.0:1.0:0.0:0.0	.	24;406;406;406	Q59H44;O60449-3;O60449;O60449-2	.;.;LY75_HUMAN;.	K	406	ENSP00000451511:E406K;ENSP00000451446:E406K;ENSP00000263636:E406K;ENSP00000423463:E406K;ENSP00000421035:E406K	ENSP00000423463:E406K	E	-	1	0	LY75;LY75-CD302	160446911	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	6.056000	0.71111	2.665000	0.90641	0.650000	0.86243	GAG		0.388	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			29	125	0	0	0	1	0	29	125					T	160738665	C	T	160738665	3	4	250	1	0	0	0	0	1	0	0	0	9099	864	30	2	4068	2	LY75	2	160738665	Missense_Mutation	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08	54754507	160738665	82460708	14	5375											
ANO7	50636	broad.mit.edu	37	chr2	242157786	242157786	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttcgccgccgcgcacaacCgcacgtgcaggtgagccccg	12	19	0	1			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr2:242157786C>A	ENST00000274979.8	+	21	2576	c.2473C>A	c.(2473-2475)Cgc>Agc	p.R825S	ANO7_ENST00000402430.3_Missense_Mutation_p.R824S	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	825					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CGCGCACAACCGCACGTGCAG	0.776																																						ENST00000274979.8																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						c.(2473-2475)Cgc>Agc		anoctamin 7							4	4	4					2																	242157786		2002	3962	5964	SO:0001583	missense	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242157786C>A	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	31677	protein-coding gene	gene with protein product		605096	"transmembrane protein 16G"	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.2473C>A	2.37:g.242157786C>A	ENSP00000274979:p.Arg825Ser					ANO7_ENST00000402430.3_Missense_Mutation_p.R824S	p.R825S	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN			21	2576	+			825					Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	c.2473C>A	CCDS33423.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.856|2.856	-0.237122|-0.237122	0.05944|0.05944	.|.	.|.	ENSG00000146205|ENSG00000146205	ENST00000451047|ENST00000274979;ENST00000402430	.|T;T	.|0.69685	.|-0.3;-0.42	2.62|2.62	2.62|2.62	0.31277|0.31277	.|.	.|0.909930	.|0.09165	.|U	.|0.839718	T|T	0.43344|0.43344	0.1243|0.1243	N|N	0.17082|0.17082	0.46|0.46	0.28818|0.28818	N|N	0.897852|0.897852	.|B	.|0.02656	.|0.0	.|B	.|0.06405	.|0.002	T|T	0.37056|0.37056	-0.9722|-0.9722	5|10	.|0.09590	.|T	.|0.72	.|.	4.2556|4.2556	0.10715|0.10715	0.0:0.6133:0.2419:0.1448|0.0:0.6133:0.2419:0.1448	.|.	.|825	.|Q6IWH7	.|ANO7_HUMAN	Q|S	137|825;824	.|ENSP00000274979:R825S;ENSP00000385418:R824S	.|ENSP00000274979:R825S	P|R	+|+	2|1	0|0	ANO7|ANO7	241806459|241806459	0.019000|0.019000	0.18553|0.18553	0.996000|0.996000	0.52242|0.52242	0.059000|0.059000	0.15707|0.15707	0.105000|0.105000	0.15333|0.15333	1.146000|1.146000	0.42352|0.42352	0.305000|0.305000	0.20034|0.20034	CCG|CGC		0.776	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		2	5	1	0	0.0784	1	0.0789521	2	5					A	242157786	C	A	242157786	3	1	250	1	0	0	0	0	1	0	0	0	702	652	23	4	2627	4	ANO7	2	242157786	Missense_Mutation	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08	81419121	242157786	1041587	15	5376											
FARP2	9855	broad.mit.edu	37	chr2	242396303	242396303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtcctcagtgatgctggcgGagccgggatggactgcgagg	18	9	1	1			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr2:242396303G>A	ENST00000264042.3	+	14	1723	c.1553G>A	c.(1552-1554)gGa>gAa	p.G518E	FARP2_ENST00000545004.1_Missense_Mutation_p.G518E|FARP2_ENST00000373287.4_Missense_Mutation_p.G518E	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	518					actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GATGCTGGCGGAGCCGGGATG	0.622																																						ENST00000264042.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(1552-1554)gGa>gAa		FERM, RhoGEF and pleckstrin domain protein 2							28	29	28					2																	242396303		2203	4300	6503	SO:0001583	missense	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242396303G>A	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.1553G>A	2.37:g.242396303G>A	ENSP00000264042:p.Gly518Glu					FARP2_ENST00000545004.1_Missense_Mutation_p.G518E|FARP2_ENST00000373287.4_Missense_Mutation_p.G518E	p.G518E	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	14	1723	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	518					B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	c.1553G>A	CCDS33424.1	.	.	.	.	.	.	.	.	.	.	G	4.555	0.103014	0.08731	.	.	ENSG00000006607	ENST00000264042;ENST00000545004;ENST00000373287	T;D;D	0.81499	-0.9;-1.5;-1.5	4.53	2.65	0.31530	Dbl homology (DH) domain (1);	0.432661	0.24391	N	0.038931	T	0.68732	0.3033	L	0.43152	1.355	0.09310	N	1	P;P;B	0.45474	0.493;0.859;0.181	B;B;B	0.43274	0.146;0.414;0.069	T	0.61357	-0.7079	10	0.02654	T	1	.	8.498	0.33141	0.0898:0.1609:0.7493:0.0	.	518;518;518	O94887-2;F5GZ84;O94887	.;.;FARP2_HUMAN	E	518	ENSP00000264042:G518E;ENSP00000443876:G518E;ENSP00000362384:G518E	ENSP00000264042:G518E	G	+	2	0	FARP2	242044976	1.000000	0.71417	0.019000	0.16419	0.213000	0.24496	1.990000	0.40717	0.331000	0.23511	0.609000	0.83330	GGA		0.622	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			10	67	0	0	0	1	0	10	67					A	242396303	G	A	242396303	3	1	250	1	0	0	0	0	1	0	0	0	5677	1174	41	2	1603	2	FARP2	2	242396303	Missense_Mutation	SNP	G	TCGA-EL-A3ZO-01A-11D-A23M-08	238517	242396303	803070	16	5377											
WDR6	11180	broad.mit.edu	37	chr3	49050828	49050828	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actggctagctgggctccgtAtagtgcccgatgggagcatg	15	10	0	0			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr3:49050828A>G	ENST00000608424.1	+	2	1900	c.1861A>G	c.(1861-1863)Ata>Gta	p.I621V	WDR6_ENST00000415265.2_Missense_Mutation_p.I69V|WDR6_ENST00000395474.3_Missense_Mutation_p.I651V|WDR6_ENST00000448293.1_Missense_Mutation_p.I570V			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	621					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		TGGGCTCCGTATAGTGCCCGA	0.557																																						ENST00000395474.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(1951-1953)Ata>Gta		WD repeat domain 6							104	78	87					3																	49050828		2203	4300	6503	SO:0001583	missense	11180				cell cycle arrest|negative regulation of cell proliferation	cytoplasm		g.chr3:49050828A>G	AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"WD repeat domain containing"	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.1861A>G	3.37:g.49050828A>G	ENSP00000477389:p.Ile621Val					WDR6_ENST00000415265.2_Missense_Mutation_p.I69V|WDR6_ENST00000448293.1_Missense_Mutation_p.I570V	p.I651V	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN		Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)	2	2231	+			621	V -> I (in Ref. 2; BAG58164).				B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	ENST00000608424.1	37	c.1951A>G		.	.	.	.	.	.	.	.	.	.	A	4.242	0.043846	0.08196	.	.	ENSG00000178252	ENST00000395474;ENST00000415265;ENST00000448293	T;T;T	0.70045	2.81;-0.45;-0.45	5.35	-0.18	0.13295	WD40 repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);Six-bladed beta-propeller, TolB-like (1);	0.483859	0.25720	N	0.028752	T	0.39627	0.1085	N	0.12182	0.205	0.09310	N	0.999998	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.14504	-1.0470	10	0.40728	T	0.16	-11.4258	4.1182	0.10092	0.3744:0.0:0.2909:0.3347	.	69;621;570	E9PBK6;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	V	651;69;570	ENSP00000378857:I651V;ENSP00000412195:I69V;ENSP00000413432:I570V	ENSP00000378857:I651V	I	+	1	0	WDR6	49025832	0.177000	0.23109	0.759000	0.31340	0.938000	0.57974	0.697000	0.25556	0.053000	0.16036	0.459000	0.35465	ATA		0.557	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1			27	56	0	0	0	1	0	27	56					G	49050828	A	G	49050828	3	3	250	1	0	0	0	0	1	0	0	0	17307	449	16	3	1957	3	WDR6	3	49050828	Missense_Mutation	SNP	A	TCGA-EL-A3ZO-01A-11D-A23M-08		49050828	148971602	17	5378											
C3orf62	375341	broad.mit.edu	37	chr3	49313987	49313987	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aggttttctctcggggcacaGagcatgtggttttgcattta	12	7	1	1			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr3:49313987G>C	ENST00000343010.3	-	1	1355	c.319C>G	c.(319-321)Ctg>Gtg	p.L107V	MIR4271_ENST00000582451.1_RNA	NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN	chromosome 3 open reading frame 62	107										breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCGGGGCACAGAGCATGTGGT	0.498																																						ENST00000343010.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(319-321)Ctg>Gtg		chromosome 3 open reading frame 62							132	127	129					3																	49313987		2203	4300	6503	SO:0001583	missense	375341							g.chr3:49313987G>C	AK125642	CCDS2792.1	3p21.31	2006-02-11			ENSG00000188315	ENSG00000188315			24771	protein-coding gene	gene with protein product						12477932	Standard	NM_198562		Approved	FLJ43654	uc003cwn.2	Q6ZUJ4	OTTHUMG00000156819	ENST00000343010.3:c.319C>G	3.37:g.49313987G>C	ENSP00000341139:p.Leu107Val						p.L107V	NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	1355	-			107					Q6P7E9|Q7Z3X6	Missense_Mutation	SNP	ENST00000343010.3	37	c.319C>G	CCDS2792.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.401457	0.42613	.	.	ENSG00000188315	ENST00000343010;ENST00000436325	T;T	0.49720	0.77;0.77	4.94	-4.98	0.03019	.	0.467974	0.14935	N	0.289868	T	0.25494	0.0620	N	0.20986	0.625	0.09310	N	1	B	0.14805	0.011	B	0.15484	0.013	T	0.10776	-1.0615	10	0.39692	T	0.17	-1.32	6.8354	0.23933	0.2464:0.2836:0.47:0.0	.	107	Q6ZUJ4	CC062_HUMAN	V	107;105	ENSP00000341139:L107V;ENSP00000413663:L105V	ENSP00000341139:L107V	L	-	1	2	C3orf62	49288991	0.000000	0.05858	0.000000	0.03702	0.813000	0.45954	-0.333000	0.07894	-0.632000	0.05553	-0.312000	0.09012	CTG		0.498	C3orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345990.1	NM_198562		38	77	0	0	0	1	0	38	77					C	49313987	G	C	49313987	3	2	250	1	0	0	0	0	1	0	0	0	2238	933	33	4	496	4	C3orf62	3	49313987	Missense_Mutation	SNP	G	TCGA-EL-A3ZO-01A-11D-A23M-08	263159	49313987	148708443	18	5379											
POLQ	10721	broad.mit.edu	37	chr3	121230820	121230820	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacaggctttagagaaccctGaaggagagctatgccttttg	11	8	0	3			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr3:121230820G>A	ENST00000264233.5	-	10	1653	c.1525C>T	c.(1525-1527)Cag>Tag	p.Q509*		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	509	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AGAGAACCCTGAAGGAGAGCT	0.408								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(1525-1527)Cag>Tag	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							83	81	82					3																	121230820		2203	4299	6502	SO:0001587	stop_gained	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121230820G>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.1525C>T	3.37:g.121230820G>A	ENSP00000264233:p.Gln509*						p.Q509*	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	10	1653	-			509			Helicase C-terminal.		O95160|Q6VMB5	Nonsense_Mutation	SNP	ENST00000264233.5	37	c.1525C>T	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	39	7.455964	0.98296	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	.	.	.	5.33	5.33	0.75918	.	0.233178	0.43919	D	0.000509	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	19.0019	0.92837	0.0:0.0:1.0:0.0	.	.	.	.	X	132;509;645	.	ENSP00000264233:Q509X	Q	-	1	0	POLQ	122713510	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.772000	0.68889	2.463000	0.83235	0.462000	0.41574	CAG		0.408	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		20	105	0	0	0	1	0	20	105					A	121230820	G	A	121230820	4	1	250	1	0	0	0	0	0	1	0	0	12208	1299	45	2	6331	2	POLQ	3	121230820	Nonsense_Mutation	SNP	G	TCGA-EL-A3ZO-01A-11D-A23M-08	71916833	121230820	76791610	19	5380											
SEC62	7095	broad.mit.edu	37	chr3	169694764	169694764	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agtggactgtcttttggattCaaagtgggcaaaggccaaga	13	6	2	1			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr3:169694764C>T	ENST00000337002.4	+	3	234	c.176C>T	c.(175-177)tCa>tTa	p.S59L	SEC62-AS1_ENST00000479626.1_RNA|SEC62_ENST00000480708.1_Missense_Mutation_p.S59L	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	59					cotranslational protein targeting to membrane (GO:0006613)|posttranslational protein targeting to membrane (GO:0006620)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						CTTTTGGATTCAAAGTGGGCA	0.343																																						ENST00000337002.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						c.(175-177)tCa>tTa		SEC62 homolog (S. cerevisiae)							73	72	72					3																	169694764		2203	4300	6503	SO:0001583	missense	7095				cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity	g.chr3:169694764C>T	D87127	CCDS3210.1	3q26.2	2008-04-22	2008-04-22	2008-04-22	ENSG00000008952	ENSG00000008952			11846	protein-coding gene	gene with protein product		602173	"translocation protein 1"	TLOC1		9020021, 10799540	Standard	NM_003262		Approved	Dtrp1, HTP1	uc003fgh.3	Q99442	OTTHUMG00000158753	ENST00000337002.4:c.176C>T	3.37:g.169694764C>T	ENSP00000337688:p.Ser59Leu					SEC62_ENST00000480708.1_Missense_Mutation_p.S59L	p.S59L	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN			3	234	+			59					D3DNQ0|O00682|O00729	Missense_Mutation	SNP	ENST00000337002.4	37	c.176C>T	CCDS3210.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.968030	0.74131	.	.	ENSG00000008952	ENST00000337002;ENST00000480708	T;T	0.13538	2.58;2.58	5.66	5.66	0.87406	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.130809	0.53938	D	0.000046	T	0.39253	0.1071	M	0.79011	2.435	0.80722	D	1	D	0.57899	0.981	D	0.67231	0.95	T	0.13255	-1.0516	10	0.72032	D	0.01	-7.2856	16.6676	0.85257	0.0:1.0:0.0:0.0	.	59	Q99442	SEC62_HUMAN	L	59	ENSP00000337688:S59L;ENSP00000420331:S59L	ENSP00000337688:S59L	S	+	2	0	SEC62	171177458	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.188000	0.77739	2.671000	0.90904	0.555000	0.69702	TCA		0.343	SEC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352043.1			13	29	0	0	0	1	0	13	29					T	169694764	C	T	169694764	3	4	250	1	0	0	0	0	1	0	0	0	14004	838	29	2	186	2	SEC62	3	169694764	Missense_Mutation	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08	48463944	169694764	28327666	20	5381											
FRYL	285527	broad.mit.edu	37	chr4	48523067	48523067	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcctccatttctccccacctCaggcagccggctgttagcat	8	17	2	0			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr4:48523067C>T	ENST00000503238.1	-	52	7686	c.7687G>A	c.(7687-7689)Gag>Aag	p.E2563K	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.E2563K|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.E2563K			O94915	FRYL_HUMAN	FRY-like	2563					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTCCCCACCTCAGGCAGCCGG	0.468																																						ENST00000537810.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(7687-7689)Gag>Aag		FRY-like							59	59	59					4																	48523067		1833	4095	5928	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48523067C>T	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.7687G>A	4.37:g.48523067C>T	ENSP00000426064:p.Glu2563Lys					FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.E2563K|FRYL_ENST00000358350.4_Missense_Mutation_p.E2563K	p.E2563K			O94915	FRYL_HUMAN			55	8291	-			2563					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.7687G>A	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	C	35	5.456152	0.96223	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810	T;T;T	0.24350	1.88;1.88;1.86	5.61	5.61	0.85477	.	0.111088	0.64402	D	0.000012	T	0.54398	0.1856	M	0.77820	2.39	0.80722	D	1	D;B;B	0.69078	0.997;0.091;0.086	D;B;B	0.73380	0.98;0.045;0.124	T	0.52411	-0.8579	10	0.45353	T	0.12	.	19.6323	0.95713	0.0:1.0:0.0:0.0	.	1393;2563;2563	Q6ZR29;O94915;F5GX82	.;FRYL_HUMAN;.	K	2563	ENSP00000426064:E2563K;ENSP00000351113:E2563K;ENSP00000441114:E2563K	ENSP00000351113:E2563K	E	-	1	0	FRYL	48217824	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	7.487000	0.81328	2.646000	0.89796	0.563000	0.77884	GAG		0.468	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			7	54	0	0	0	1	0	7	54					T	48523067	C	T	48523067	3	4	250	1	0	0	0	0	1	0	0	0	6064	835	29	2	1394	2	FRYL	4	48523067	Missense_Mutation	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08		48523067	142631209	21	5382											
TMEM192	201931	broad.mit.edu	37	chr4	166000862	166000862	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggaagtgagagccaacaatCgcttactcagcagcgcattg	11	10	1	1	rs556977126		TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr4:166000862C>T	ENST00000306480.6	-	6	909	c.764G>A	c.(763-765)cGa>cAa	p.R255Q	TMEM192_ENST00000506087.1_Missense_Mutation_p.R251Q	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN	transmembrane protein 192	255						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		AGCCAACAATCGCTTACTCAG	0.463																																						ENST00000306480.5																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7						c.(763-765)cGa>cAa		transmembrane protein 192							106	102	103					4																	166000862		1956	4152	6108	SO:0001583	missense	201931					Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus		g.chr4:166000862C>T	BC036301	CCDS43279.1	4q32.3	2008-04-22			ENSG00000170088	ENSG00000170088			26775	protein-coding gene	gene with protein product						12477932	Standard	NM_001100389		Approved	FLJ38482	uc003iqz.4	Q8IY95	OTTHUMG00000161254	ENST00000306480.6:c.764G>A	4.37:g.166000862C>T	ENSP00000305069:p.Arg255Gln					TMEM192_ENST00000506087.1_Missense_Mutation_p.R251Q	p.R255Q	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN		GBM - Glioblastoma multiforme(119;0.0926)	6	909	-	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)	255					Q7Z3A1|Q8N928	Missense_Mutation	SNP	ENST00000306480.6	37	c.764G>A	CCDS43279.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040335	0.35989	.	.	ENSG00000170088	ENST00000306480;ENST00000506087	.	.	.	5.97	5.97	0.96955	.	0.053862	0.64402	D	0.000001	T	0.47728	0.1461	M	0.62723	1.935	0.40649	D	0.982018	D	0.55800	0.973	B	0.39935	0.314	T	0.53129	-0.8482	9	0.42905	T	0.14	-36.0273	11.2118	0.48804	0.0:0.9174:0.0:0.0826	.	255	Q8IY95	TM192_HUMAN	Q	255;251	.	ENSP00000305069:R255Q	R	-	2	0	TMEM192	166220312	0.973000	0.33851	0.144000	0.22314	0.009000	0.06853	2.305000	0.43664	2.835000	0.97688	0.591000	0.81541	CGA		0.463	TMEM192-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364310.3	NM_152681		7	36	0	0	0	1	0	7	36					T	166000862	C	T	166000862	3	4	250	1	0	0	0	0	1	0	0	0	16112	884	31	1	55	1	TMEM192	4	166000862	Missense_Mutation	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08	117477795	166000862	25153414	22	5383											
C7	730	broad.mit.edu	37	chr5	40947793	40947793	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttacaacttgctgagccattCtggaaggagctttcccacct	8	12	1	1			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr5:40947793C>T	ENST00000313164.9	+	8	1187	c.828C>T	c.(826-828)ttC>ttT	p.F276F		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	276	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				CTGAGCCATTCTGGAAGGAGC	0.448																																						ENST00000313164.9																			0											c.(826-828)ttC>ttT		complement component 7							82	78	79					5																	40947793		1848	4087	5935	SO:0001819	synonymous_variant	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40947793C>T	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"Complement system"	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.828C>T	5.37:g.40947793C>T							p.F276F	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN			8	1187	+		Ovarian(839;0.0112)	276			MACPF.		Q6P3T5|Q92489	Silent	SNP	ENST00000313164.9	37	c.828C>T	CCDS47201.1																																																																																				0.448	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			5	92	0	0	0	1	0	5	92					T	40947793	C	T	40947793	2	4	250	1	0	0	0	0	0	0	0	1	2375	912	32	2		2	C7	5	40947793	Silent	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08		40947793	139967467	23	5384											
PIK3R1	5295	broad.mit.edu	37	chr5	67593325	67593325	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cctataacttgtacagctctCtgaaagaactggtgctacat	7	10	1	2			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr5:67593325C>G	ENST00000521381.1	+	16	2687	c.2071C>G	c.(2071-2073)Ctg>Gtg	p.L691V	PIK3R1_ENST00000521657.1_Missense_Mutation_p.L691V|PIK3R1_ENST00000396611.1_Missense_Mutation_p.L699V|PIK3R1_ENST00000523872.1_Missense_Mutation_p.L328V|PIK3R1_ENST00000320694.8_Missense_Mutation_p.L391V|PIK3R1_ENST00000336483.5_Missense_Mutation_p.L421V|PIK3R1_ENST00000274335.5_Missense_Mutation_p.L691V	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	691	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	GTACAGCTCTCTGAAAGAACT	0.493			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		2	Whole gene deletion(1)|Unknown(1)	p.0?(1)|p.?(1)	large_intestine(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(2071-2073)Ctg>Gtg		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)						247	238	241					5																	67593325		2203	4300	6503	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67593325C>G	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.2071C>G	5.37:g.67593325C>G	ENSP00000428056:p.Leu691Val	TCGA GBM(4;<1E-08)				PIK3R1_ENST00000320694.8_Missense_Mutation_p.L391V|PIK3R1_ENST00000336483.5_Missense_Mutation_p.L421V|PIK3R1_ENST00000396611.1_Missense_Mutation_p.L699V|PIK3R1_ENST00000523872.1_Missense_Mutation_p.L328V|PIK3R1_ENST00000521657.1_Missense_Mutation_p.L691V|PIK3R1_ENST00000274335.5_Missense_Mutation_p.L691V	p.L691V	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	16	2687	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	691			SH2 2.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.2071C>G	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496896	0.64186	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	D;D;D;D;D;D;D	0.91792	-2.91;-2.91;-2.91;-2.91;-2.91;-2.91;-2.91	4.96	4.08	0.47627	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.95043	0.8395	M	0.71206	2.165	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.91635	0.999;0.999;0.999	D	0.94429	0.7648	10	0.49607	T	0.09	-10.8658	13.7466	0.62879	0.0:0.9246:0.0:0.0754	.	421;391;691	P27986-2;P27986-3;P27986	.;.;P85A_HUMAN	V	691;691;699;691;391;421;328	ENSP00000428056:L691V;ENSP00000429277:L691V;ENSP00000379855:L699V;ENSP00000274335:L691V;ENSP00000323512:L391V;ENSP00000338554:L421V;ENSP00000430098:L328V	ENSP00000274335:L691V	L	+	1	2	PIK3R1	67629081	0.994000	0.37717	1.000000	0.80357	0.996000	0.88848	3.206000	0.51098	2.592000	0.87571	0.655000	0.94253	CTG		0.493	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		36	227	0	0	0	1	0	36	227					G	67593325	C	G	67593325	3	3	250	1	0	0	0	0	1	0	0	0	11918	912	32	4	2259	4	PIK3R1	5	67593325	Missense_Mutation	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08	26645532	67593325	113321935	24	5385											
TMEM171	134285	broad.mit.edu	37	chr5	72427547	72427547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcctctatcttctgagccttCcccaccgtaaactatggact	6	15	3	1			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr5:72427547C>T	ENST00000454765.2	+	4	1438	c.965C>T	c.(964-966)tCc>tTc	p.S322F	TMEM171_ENST00000287773.5_Missense_Mutation_p.S321F|RP11-232L2.2_ENST00000508255.1_RNA			Q8WVE6	TM171_HUMAN	transmembrane protein 171	322						integral component of membrane (GO:0016021)				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		TCTGAGCCTTCCCCACCGTAA	0.353																																					NSCLC(112;638 2280 27369 30736)	ENST00000454765.2																			0				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15						c.(964-966)tCc>tTc		transmembrane protein 171							123	121	122					5																	72427547		2203	4300	6503	SO:0001583	missense	134285					integral to membrane		g.chr5:72427547C>T	BC018083	CCDS4017.1, CCDS54869.1	5q13.2	2008-02-05			ENSG00000157111	ENSG00000157111			27031	protein-coding gene	gene with protein product						12477932	Standard	NM_173490		Approved	PRP2	uc003kcm.2	Q8WVE6	OTTHUMG00000131269	ENST00000454765.2:c.965C>T	5.37:g.72427547C>T	ENSP00000415030:p.Ser322Phe					TMEM171_ENST00000287773.5_Missense_Mutation_p.S321F	p.S322F			Q8WVE6	TM171_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)	4	1438	+		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)	322					Q8N0S1|Q8TDT7	Missense_Mutation	SNP	ENST00000454765.2	37	c.965C>T	CCDS4017.1	.	.	.	.	.	.	.	.	.	.	C	9.034	0.988090	0.18966	.	.	ENSG00000157111	ENST00000454765;ENST00000287773	T;T	0.30714	1.52;1.52	5.22	3.45	0.39498	.	0.328441	0.26058	N	0.026599	T	0.29556	0.0737	M	0.65975	2.015	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.26018	-1.0115	10	0.51188	T	0.08	-6.2457	7.4694	0.27340	0.0:0.6937:0.147:0.1593	.	321;322	Q8WVE6-2;Q8WVE6	.;TM171_HUMAN	F	322;321	ENSP00000415030:S322F;ENSP00000287773:S321F	ENSP00000287773:S321F	S	+	2	0	TMEM171	72463303	0.247000	0.23920	0.017000	0.16124	0.064000	0.16182	2.508000	0.45450	0.599000	0.29845	-0.244000	0.11960	TCC		0.353	TMEM171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254037.2	NM_173490		26	175	0	0	0	1	0	26	175					T	72427547	C	T	72427547	3	4	250	1	0	0	0	0	1	0	0	0	16085	855	30	2	975	2	TMEM171	5	72427547	Missense_Mutation	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08	4834222	72427547	108487713	25	5386											
CHD1	1105	broad.mit.edu	37	chr5	98232910	98232910	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tacttacttgcaccaagaatGagcaagccaatttaaaccat	5	10	0	2			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr5:98232910G>A	ENST00000284049.3	-	10	1629	c.1480C>T	c.(1480-1482)Cat>Tat	p.H494Y		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	494	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CACCAAGAATGAGCAAGCCAA	0.348																																						ENST00000284049.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(1480-1482)Cat>Tat		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						88	89	89					5																	98232910		2203	4300	6503	SO:0001583	missense	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98232910G>A	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.1480C>T	5.37:g.98232910G>A	ENSP00000284049:p.His494Tyr						p.H494Y	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	10	1629	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	494			Helicase ATP-binding.		Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	c.1480C>T	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619551	0.87460	.	.	ENSG00000153922	ENST00000284049	D	0.93133	-3.17	5.76	5.76	0.90799	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.34828	U	0.003649	D	0.87229	0.6125	N	0.02876	-0.465	0.80722	D	1	B	0.33583	0.418	B	0.39590	0.304	D	0.86358	0.1715	10	0.40728	T	0.16	.	19.9647	0.97261	0.0:0.0:1.0:0.0	.	494	O14646	CHD1_HUMAN	Y	494	ENSP00000284049:H494Y	ENSP00000284049:H494Y	H	-	1	0	CHD1	98260810	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.441000	0.97557	2.719000	0.93026	0.585000	0.79938	CAT		0.348	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		33	56	0	0	0	1	0	33	56					A	98232910	G	A	98232910	3	1	250	1	0	0	0	0	1	0	0	0	3323	1290	45	2	3756	2	CHD1	5	98232910	Missense_Mutation	SNP	G	TCGA-EL-A3ZO-01A-11D-A23M-08	25805363	98232910	82682350	26	5387											
PCDHB5	26167	broad.mit.edu	37	chr5	140516600	140516600	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccctgcaggcgttcgagttCcgcgtgggagccacagaccg	15	14	0	1			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr5:140516600C>T	ENST00000231134.5	+	1	1801	c.1584C>T	c.(1582-1584)ttC>ttT	p.F528F		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	528	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(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTTCGAGTTCCGCGTGGGAG	0.687																																						ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(1582-1584)ttC>ttT									49	53	52					5																	140516600		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516600C>T	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"Cadherins / Protocadherins : Clustered"	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1584C>T	5.37:g.140516600C>T							p.F528F	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1801	+			528			Cadherin 5.		Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	c.1584C>T	CCDS4247.1																																																																																				0.687	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		48	158	0	0	0	1	0	48	158					T	140516600	C	T	140516600	2	4	250	1	0	0	0	0	0	0	0	1	11545	854	30	2		2	PCDHB5	5	140516600	Silent	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08	42283690	140516600	40398660	27	5388											
PCDHGA2	56113	broad.mit.edu	37	chr5	140718777	140718777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctctttgctctgaacccgcGaagcggcagcttggtcactg	12	13	3	1			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr5:140718777G>A	ENST00000394576.2	+	1	239	c.239G>A	c.(238-240)cGa>cAa	p.R80Q	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	80	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)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGAACCCGCGAAGCGGCAGC	0.572																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(238-240)cGa>cAa									59	64	62					5																	140718777		2203	4300	6503	SO:0001583	missense	0							g.chr5:140718777G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.239G>A	5.37:g.140718777G>A	ENSP00000378077:p.Arg80Gln					PCDHGA1_ENST00000517417.1_Intron	p.R80Q	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	239	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.239G>A	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	11.09	1.536404	0.27475	.	.	ENSG00000081853	ENST00000394576	T	0.26810	1.71	5.08	3.27	0.37495	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.37136	U	0.002224	T	0.19327	0.0464	L	0.48877	1.53	0.09310	N	1	P;P	0.35944	0.497;0.529	B;B	0.34652	0.118;0.187	T	0.13683	-1.0500	10	0.48119	T	0.1	.	5.4761	0.16695	0.3917:0.0:0.6083:0.0	.	80;80	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	Q	80	ENSP00000378077:R80Q	ENSP00000378077:R80Q	R	+	2	0	PCDHGA2	140698961	0.001000	0.12720	0.804000	0.32291	0.427000	0.31564	1.396000	0.34531	1.280000	0.44463	-0.218000	0.12543	CGA		0.572	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		20	135	0	0	0	1	0	20	135					A	140718777	G	A	140718777	3	1	250	1	0	0	0	0	1	0	0	0	11554	1058	37	1	241	1	PCDHGA2	5	140718777	Missense_Mutation	SNP	G	TCGA-EL-A3ZO-01A-11D-A23M-08	202177	140718777	40196483	28	5389											
HIST1H1C	3006	broad.mit.edu	37	chr6	26056240	26056240	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gttgcgccgccagccgccttCttgggcttcttggctgcccc	12	17	2	0	rs547786942		TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr6:26056240C>T	ENST00000343677.2	-	1	459	c.417G>A	c.(415-417)aaG>aaA	p.K139K		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	139					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)			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						CAGCCGCCTTCTTGGGCTTCT	0.567																																						ENST00000343677.2																			0				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.(415-417)aaG>aaA		histone cluster 1, H1c							62	74	70					6																	26056240		2198	4296	6494	SO:0001819	synonymous_variant	3006				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26056240C>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.417G>A	6.37:g.26056240C>T							p.K139K	NM_005319.3	NP_005310.1	P16403	H12_HUMAN			1	459	-			139					A8K4I2	Silent	SNP	ENST00000343677.2	37	c.417G>A	CCDS4577.1																																																																																				0.567	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		24	172	0	0	0	1	0	24	172					T	26056240	C	T	26056240	2	4	250	1	0	0	0	0	0	0	0	1	7124	912	32	2		2	HIST1H1C	6	26056240	Silent	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08		26056240	145058827	29	5390											
ZKSCAN4	387032	broad.mit.edu	37	chr6	28213044	28213044	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ataagacttctattccgtgtGaaacttctctcacactcatt	4	11	4	2			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr6:28213044G>A	ENST00000377294.2	-	5	1731	c.1488C>T	c.(1486-1488)ttC>ttT	p.F496F	ZKSCAN4_ENST00000423974.2_Silent_p.F341F	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	496					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(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TATTCCGTGTGAAACTTCTCT	0.453																																						ENST00000377294.2																			0				endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(1486-1488)ttC>ttT		zinc finger with KRAB and SCAN domains 4							119	117	118					6																	28213044		2203	4300	6503	SO:0001819	synonymous_variant	387032				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28213044G>A	AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"Zinc fingers, C2H2-type", "-", "-", "-"	13854	protein-coding gene	gene with protein product		611643	"zinc finger protein 307", "zinc finger protein 427"	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.1488C>T	6.37:g.28213044G>A						ZKSCAN4_ENST00000423974.2_Silent_p.F341F	p.F496F	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN			5	1731	-			496					B2RE32|Q5U7L4	Silent	SNP	ENST00000377294.2	37	c.1488C>T	CCDS4647.1																																																																																				0.453	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	NM_019110		17	93	0	0	0	1	0	17	93					A	28213044	G	A	28213044	2	1	250	1	0	0	0	0	0	0	0	1	17686	1281	45	2		2	ZKSCAN4	6	28213044	Silent	SNP	G	TCGA-EL-A3ZO-01A-11D-A23M-08	2156804	28213044	142902023	30	5391											
HLA-DPB1	3115	broad.mit.edu	37	chr6	33052895	33052895	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	caccaacctgatccgtaatgGagactggaccttccagatcc	8	14	0	3			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr6:33052895G>C	ENST00000418931.2	+	3	649	c.533G>C	c.(532-534)gGa>gCa	p.G178A		NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	178	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	peptide antigen binding (GO:0042605)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						ATCCGTAATGGAGACTGGACC	0.557																																						ENST00000418931.2																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						c.(532-534)gGa>gCa		major histocompatibility complex, class II, DP beta 1							129	121	124					6																	33052895		1511	2709	4220	SO:0001583	missense	3115				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex		g.chr6:33052895G>C		CCDS4765.1	6p21.3	2013-01-11			ENSG00000223865	ENSG00000223865		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4940	protein-coding gene	gene with protein product		142858		HLA-DP1B			Standard	NM_002121		Approved		uc003ocu.2	P04440	OTTHUMG00000031076	ENST00000418931.2:c.533G>C	6.37:g.33052895G>C	ENSP00000408146:p.Gly178Ala						p.G178A	NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN			3	649	+			178			Beta-2.|Ig-like C1-type.		A0PFJ7|A5I886|A8YPB3|B5U8B4|B7VF80|B7VF87|B8ZX68|B8ZYT0|B9W5S8|B9W6F7|B9W6F9|C0MPP5|C0MPQ2|C0MPQ3|C0MPQ5|C0MPQ6|C0MPQ7|C4R9J5|C5IZL1|O00259|O19698|O19700|O19702|O19749|O46884|O77952|O98215|O98216|O98217|O98218|O98219|O98222|O98223|P01916|P04232|P13763|P79493|P79608|Q0P0L4|Q0ZFN3|Q14279|Q27S71|Q29682|Q29684|Q29698|Q29714|Q29775|Q29776|Q29778|Q29779|Q29781|Q29827|Q29828|Q29879|Q29880|Q29898|Q29977|Q2MGW3|Q30015|Q30031|Q30032|Q30033|Q30034|Q30050|Q30051|Q30052|Q30053|Q30054|Q30055|Q30174|Q4GY31|Q4JHD8|Q5ENE0|Q5ENE1|Q5ENW3|Q5EP46|Q5EP47|Q5EP49|Q5EP51|Q5EP52|Q5EP53|Q5EP56|Q5I4H8|Q5I4H9|Q5ISH4|Q5ISH5|Q5SQ73|Q5STP2|Q5YLA6|Q6IVX1|Q6LBX2|Q6LBX3|Q6LBX4|Q6LBX5|Q6LBX6|Q6LBX7|Q6PWX6|Q6TAS4|Q714U1|Q714U2|Q7YQ10|Q860Z7|Q8HWL7|Q8HWT5|Q8SNC4|Q95HC1|Q95IT7|Q95IT8|Q9BD13|Q9GIM2|Q9GIM4|Q9GIX6|Q9GJ41|Q9MY67|Q9TNT7|Q9TQE2|Q9XS11|Q9XS12	Missense_Mutation	SNP	ENST00000418931.2	37	c.533G>C	CCDS4765.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.45|16.45	3.125446|3.125446	0.56721|0.56721	.|.	.|.	ENSG00000223865|ENSG00000223865	ENST00000416804|ENST00000418931;ENST00000411942;ENST00000428835	.|T;T	.|0.00628	.|6.11;6.11	4.04|4.04	3.16|3.16	0.36331|0.36331	.|Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.01627|0.01627	0.0052|0.0052	M|M	0.83603|0.83603	2.65|2.65	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	T|T	0.50021|0.50021	-0.8876|-0.8876	5|10	.|0.87932	.|D	.|0	.|.	9.884|9.884	0.41251|0.41251	0.1029:0.0:0.8971:0.0|0.1029:0.0:0.8971:0.0	.|.	.|144;188;178	.|A2ALJ6;Q59GY1;P04440	.|.;.;DPB1_HUMAN	Q|A	145|178;148;155	.|ENSP00000408146:G178A;ENSP00000412654:G155A	.|ENSP00000389210:G148A	E|G	+|+	1|2	0|0	HLA-DPB1|HLA-DPB1	33160873|33160873	1.000000|1.000000	0.71417|0.71417	0.211000|0.211000	0.23655|0.23655	0.866000|0.866000	0.49608|0.49608	3.802000|3.802000	0.55553|0.55553	1.050000|1.050000	0.40346|0.40346	0.544000|0.544000	0.68410|0.68410	GAG|GGA		0.557	HLA-DPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076106.2	NM_002121		20	127	0	0	0	1	0	20	127					C	33052895	G	C	33052895	3	2	250	1	0	0	0	0	1	0	0	0	7203	1174	41	4	543	4	HLA-DPB1	6	33052895	Missense_Mutation	SNP	G	TCGA-EL-A3ZO-01A-11D-A23M-08	4839851	33052895	138062172	31	5392											
LHFPL5	222662	broad.mit.edu	37	chr6	35782404	35782404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcatgtgtggggagcagaCgggcaagtacacgctgggcc	18	10	0	1	rs104893976		TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr6:35782404C>T	ENST00000373853.1	+	2	872	c.494C>T	c.(493-495)aCg>aTg	p.T165M	LHFPL5_ENST00000496656.1_3'UTR|LHFPL5_ENST00000360215.1_Missense_Mutation_p.T165M			Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	165			T -> M (in DFNB67). {ECO:0000269|PubMed:16752389}.		auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transport (GO:0006811)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						GGGGAGCAGACGGGCAAGTAC	0.627																																						ENST00000360215.1																			0				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20	GRCh37	CM062818	LHFPL5	M	rs104893976	c.(493-495)aCg>aTg		lipoma HMGIC fusion partner-like 5							182	119	141					6																	35782404		2203	4300	6503	SO:0001583	missense	222662					integral to membrane		g.chr6:35782404C>T	BC028630	CCDS4812.1	6p21.31	2014-01-28				ENSG00000197753			21253	protein-coding gene	gene with protein product		609427	"deafness, autosomal recessive 67"	DFNB67		16459341	Standard	NM_182548		Approved	MGC33835, dJ510O8.8, Tmhs	uc003olg.1	Q8TAF8		ENST00000373853.1:c.494C>T	6.37:g.35782404C>T	ENSP00000362960:p.Thr165Met					LHFPL5_ENST00000373853.1_Missense_Mutation_p.T165M|LHFPL5_ENST00000496656.1_3'UTR	p.T165M	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN			2	871	+			165		T -> M (in DFNB67).			B3KX66	Missense_Mutation	SNP	ENST00000373853.1	37	c.494C>T	CCDS4812.1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999211	0.93227	.	.	ENSG00000197753	ENST00000373853;ENST00000360215	T;T	0.73363	-0.74;-0.74	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.86435	0.5932	M	0.85710	2.77	0.58432	A	0.999994	D	0.89917	1.0	D	0.91635	0.999	D	0.88536	0.3106	9	0.87932	D	0	-21.2576	18.717	0.91679	0.0:1.0:0.0:0.0	.	165	Q8TAF8	TMHS_HUMAN	M	165	ENSP00000362960:T165M;ENSP00000353346:T165M	ENSP00000353346:T165M	T	+	2	0	LHFPL5	35890382	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.434000	0.82447	0.561000	0.74099	ACG		0.627	LHFPL5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040323.1	NM_182548		37	70	0	0	0	1	0	37	70					T	35782404	C	T	35782404	3	4	250	1	0	0	0	0	1	0	0	0	8768	536	19	1	500	1	LHFPL5	6	35782404	Missense_Mutation	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08	2729509	35782404	135332663	32	5393											
LGSN	51557	broad.mit.edu	37	chr6	63990030	63990030	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcgaataaaggtttctcctaGagcctgtctcaggcattgat	9	9	2	2			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr6:63990030G>C	ENST00000370657.4	-	4	1459	c.1426C>G	c.(1426-1428)Cta>Gta	p.L476V	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	476					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTTTCTCCTAGAGCCTGTCTC	0.383																																						ENST00000370657.4																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1426-1428)Cta>Gta		lengsin, lens protein with glutamine synthetase domain	L-Glutamic Acid(DB00142)						76	79	78					6																	63990030		2203	4300	6503	SO:0001583	missense	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63990030G>C	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"glutamate-ammonia ligase (glutamine synthetase) domain containing 1"	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.1426C>G	6.37:g.63990030G>C	ENSP00000359691:p.Leu476Val					LGSN_ENST00000370658.5_3'UTR	p.L476V			Q5TDP6	LGSN_HUMAN			4	1459	-			476					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.1426C>G	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.931956	0.34096	.	.	ENSG00000146166	ENST00000370657	D	0.90732	-2.72	5.96	5.96	0.96718	Glutamine synthetase/guanido kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94285	0.8164	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.94480	0.7692	10	0.72032	D	0.01	-12.5536	8.7704	0.34728	0.158:0.0:0.842:0.0	.	476	Q5TDP6	LGSN_HUMAN	V	476	ENSP00000359691:L476V	ENSP00000359691:L476V	L	-	1	2	LGSN	64047989	1.000000	0.71417	0.993000	0.49108	0.058000	0.15608	2.765000	0.47621	2.832000	0.97577	0.655000	0.94253	CTA		0.383	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		12	87	0	0	0	1	0	12	87					C	63990030	G	C	63990030	3	2	250	1	0	0	0	0	1	0	0	0	8759	933	33	4	107	4	LGSN	6	63990030	Missense_Mutation	SNP	G	TCGA-EL-A3ZO-01A-11D-A23M-08	28207626	63990030	107125037	33	5394											
ANKRD6	22881	broad.mit.edu	37	chr6	90276782	90276782	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acagagaatgtggttcagctCatcaacaagggcgccagggt	13	9	3	1			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr6:90276782C>G	ENST00000522441.1	+	2	728	c.87C>G	c.(85-87)ctC>ctG	p.L29L	RP11-16C18.3_ENST00000425588.1_RNA|ANKRD6_ENST00000520793.1_Silent_p.L29L|ANKRD6_ENST00000339746.4_Silent_p.L29L|RP11-16C18.3_ENST00000438267.1_RNA|ANKRD6_ENST00000520886.2_Intron|ANKRD6_ENST00000485637.1_Silent_p.L29L|ANKRD6_ENST00000369408.5_Silent_p.L29L|ANKRD6_ENST00000447838.2_Silent_p.L29L	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	29					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		TGGTTCAGCTCATCAACAAGG	0.498																																						ENST00000369408.5																			0				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21						c.(85-87)ctC>ctG		ankyrin repeat domain 6							52	52	52					6																	90276782		1958	4147	6105	SO:0001819	synonymous_variant	22881						protein binding	g.chr6:90276782C>G	AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"Ankyrin repeat domain containing"	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.87C>G	6.37:g.90276782C>G						ANKRD6_ENST00000520793.1_Silent_p.L29L|ANKRD6_ENST00000520886.2_Intron|ANKRD6_ENST00000485637.1_Silent_p.L29L|ANKRD6_ENST00000339746.4_Silent_p.L29L|ANKRD6_ENST00000447838.2_Silent_p.L29L|ANKRD6_ENST00000522441.1_Silent_p.L29L	p.L29L	NM_001242813.1	NP_001229742.1	Q9Y2G4	ANKR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0209)	2	436	+		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)	29					B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Silent	SNP	ENST00000522441.1	37	c.87C>G	CCDS56441.1																																																																																				0.498	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376594.1			4	7	0	0	0	1	0	4	7					G	90276782	C	G	90276782	2	3	250	1	0	0	0	0	0	0	0	1	685	813	29	4		4	ANKRD6	6	90276782	Silent	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08	26286752	90276782	80838285	34	5395											
GGCT	79017	broad.mit.edu	37	chr7	30538517	30538517	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttgagttgcaactttaacttCtattacaacatacattccac	3	10	1	1			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr7:30538517C>G	ENST00000275428.4	-	3	459	c.325G>C	c.(325-327)Gaa>Caa	p.E109Q	GGCT_ENST00000005374.6_Intron|GGCT_ENST00000409144.1_Intron|GGCT_ENST00000409390.1_Intron|GGCT_ENST00000598361.1_Missense_Mutation_p.E24Q|GGCT_ENST00000409436.1_Missense_Mutation_p.E109Q	NM_024051.3	NP_076956.1	O75223	GGCT_HUMAN	gamma-glutamylcyclotransferase	109					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|release of cytochrome c from mitochondria (GO:0001836)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	gamma-glutamylcyclotransferase activity (GO:0003839)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						ACTTTAACTTCTATTACAACA	0.388																																						ENST00000275428.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						c.(325-327)Gaa>Caa		gamma-glutamylcyclotransferase							159	148	152					7																	30538517		2203	4300	6503	SO:0001583	missense	79017				release of cytochrome c from mitochondria	cytosol	acyltransferase activity|gamma-glutamylcyclotransferase activity|protein homodimerization activity	g.chr7:30538517C>G	BC019243	CCDS5428.1, CCDS56474.1, CCDS56475.1, CCDS56476.1	7p15-p14	2010-04-23	2010-04-23	2008-08-04	ENSG00000006625	ENSG00000006625	2.3.2.4		21705	protein-coding gene	gene with protein product		137170	"chromosome 7 open reading frame 24"	C7orf24, GCTG		17932939, 18515354	Standard	NM_024051		Approved	MGC3077, CRF21, Ggc	uc003tba.3	O75223	OTTHUMG00000128593	ENST00000275428.4:c.325G>C	7.37:g.30538517C>G	ENSP00000275428:p.Glu109Gln					GGCT_ENST00000409436.1_Missense_Mutation_p.E109Q|GGCT_ENST00000598361.1_Missense_Mutation_p.E24Q|GGCT_ENST00000409390.1_Intron|GGCT_ENST00000409144.1_Intron|GGCT_ENST00000005374.6_Intron	p.E109Q	NM_024051.3	NP_076956.1	O75223	GGCT_HUMAN			3	459	-			109					B2RDN0|B8ZZN4|B8ZZR8|Q9BS37	Missense_Mutation	SNP	ENST00000275428.4	37	c.325G>C	CCDS5428.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609965	0.66558	.	.	ENSG00000006625	ENST00000275428;ENST00000497601;ENST00000409436	.	.	.	5.55	3.64	0.41730	Butirosin biosynthesis, BtrG-like (1);AIG2-like (1);	0.089813	0.85682	D	0.000000	T	0.42291	0.1196	N	0.24115	0.695	0.80722	D	1	P;D	0.53745	0.785;0.962	B;P	0.49192	0.264;0.602	T	0.14200	-1.0481	9	0.20046	T	0.44	-18.9861	10.7362	0.46126	0.0:0.7942:0.1321:0.0737	.	109;48	O75223;E7EU55	GGCT_HUMAN;.	Q	109;48;109	.	ENSP00000275428:E109Q	E	-	1	0	GGCT	30505042	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.600000	0.46240	1.482000	0.48325	0.650000	0.86243	GAA		0.388	GGCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250447.2	NM_024051		13	91	0	0	0	1	0	13	91					G	30538517	C	G	30538517	3	3	250	1	0	0	0	0	1	0	0	0	6355	922	32	4	249	4	GGCT	7	30538517	Missense_Mutation	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08		30538517	128600146	35	5396											
CAMK2B	816	broad.mit.edu	37	chr7	44302632	44302632	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaatgcttcagaaggcggcaGatccgagcctctctctccag	11	13	3	2			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr7:44302632G>T	ENST00000395749.2	-	3	268	c.192C>A	c.(190-192)atC>atA	p.I64I	CAMK2B_ENST00000346990.4_Silent_p.I64I|CAMK2B_ENST00000353625.4_Silent_p.I64I|CAMK2B_ENST00000347193.4_Silent_p.I64I|CAMK2B_ENST00000258682.6_Silent_p.I64I|CAMK2B_ENST00000395747.2_Silent_p.I64I|CAMK2B_ENST00000440254.2_Silent_p.I64I|CAMK2B_ENST00000350811.3_Silent_p.I64I|CAMK2B_ENST00000457475.1_Silent_p.I64I|CAMK2B_ENST00000358707.3_Silent_p.I64I|CAMK2B_ENST00000502837.2_De_novo_Start_InFrame	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	64	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						GAAGGCGGCAGATCCGAGCCT	0.617																																						ENST00000502837.2																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18								calcium/calmodulin-dependent protein kinase II beta							56	56	56					7																	44302632		2203	4300	6503	SO:0001819	synonymous_variant	816				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr7:44302632G>T	U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"CaM-kinase II beta chain", "calcium/calmodulin-dependent protein kinase type II beta chain", "CaM kinase II beta subunit", "proline rich calmodulin-dependent protein kinase"	607707	"calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.192C>A	7.37:g.44302632G>T						CAMK2B_ENST00000395749.2_Silent_p.I64I|CAMK2B_ENST00000346990.4_Silent_p.I64I|CAMK2B_ENST00000258682.6_Silent_p.I64I|CAMK2B_ENST00000358707.3_Silent_p.I64I|CAMK2B_ENST00000440254.2_Silent_p.I64I|CAMK2B_ENST00000457475.1_Silent_p.I64I|CAMK2B_ENST00000353625.4_Silent_p.I64I|CAMK2B_ENST00000347193.4_Silent_p.I64I|CAMK2B_ENST00000350811.3_Silent_p.I64I|CAMK2B_ENST00000395747.2_Silent_p.I64I				Q13554	KCC2B_HUMAN			0	245	-								A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Translation_Start_Site	SNP	ENST00000395749.2	37		CCDS5483.1																																																																																				0.617	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251138.2	NM_172084		12	88	1	0	4.3838e-07	1	4.67824e-07	12	88					T	44302632	G	T	44302632	2	4	250	1	0	0	0	0	0	0	0	1	2600	932	33	4		4	CAMK2B	7	44302632	Silent	SNP	G	TCGA-EL-A3ZO-01A-11D-A23M-08	13764115	44302632	114836031	36	5397											
ZNF655	79027	broad.mit.edu	37	chr7	99170671	99170671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttgtgaaagagtcttcagtCgtagtgtccaccttactcaa	9	9	3	2	rs201958300		TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr7:99170671C>T	ENST00000394163.2	+	3	1123	c.940C>T	c.(940-942)Cgt>Tgt	p.R314C	ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000419215.2_3'UTR|GS1-259H13.10_ENST00000455905.1_Intron|GS1-259H13.10_ENST00000486324.1_Intron|ZNF655_ENST00000424881.1_Missense_Mutation_p.R349C|ZNF655_ENST00000493277.1_Missense_Mutation_p.R349C|ZNF655_ENST00000252713.4_Missense_Mutation_p.R314C	NM_001009960.1|NM_138494.2	NP_001009960.1|NP_612503.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	314					negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R314C(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					AGTCTTCAGTCGTAGTGTCCA	0.403																																						ENST00000424881.1																			1	Substitution - Missense(1)	p.R314C(1)	NS(1)	NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16						c.(1045-1047)Cgt>Tgt		zinc finger protein 655							85	79	81					7																	99170671		2203	4300	6503	SO:0001583	missense	79027				G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	g.chr7:99170671C>T	AY099353	CCDS5669.1, CCDS5670.1, CCDS34695.1, CCDS47655.1	7q22.1	2013-01-08			ENSG00000197343	ENSG00000197343		"Zinc fingers, C2H2-type", "-"	30899	protein-coding gene	gene with protein product						11179890, 15558030	Standard	NM_001083956		Approved	VIK-1, VIK	uc010lgc.3	Q8N720	OTTHUMG00000156637	ENST00000394163.2:c.940C>T	7.37:g.99170671C>T	ENSP00000377718:p.Arg314Cys					ZNF655_ENST00000493277.1_Missense_Mutation_p.R349C|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000394163.2_Missense_Mutation_p.R314C|ZNF655_ENST00000252713.4_Missense_Mutation_p.R314C	p.R349C	NM_001083956.1|NM_001085368.1	NP_001077425.1|NP_001078837.1	Q8N720	ZN655_HUMAN			4	1265	+	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)		314					A4D291|A6NGD3|B4E3M4|B7Z9Q9|D6W5T4|Q8IV00|Q8TA89|Q96EZ3|Q9BQ85	Missense_Mutation	SNP	ENST00000394163.2	37	c.1045C>T	CCDS5669.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.679155	0.47886	.	.	ENSG00000197343	ENST00000252713;ENST00000493277;ENST00000424881;ENST00000394163	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	4.93	1.9	0.25705	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44688	D	0.000436	T	0.42787	0.1218	L	0.53729	1.69	0.41530	D	0.988455	B;B	0.17465	0.017;0.022	B;B	0.12837	0.004;0.008	T	0.37033	-0.9723	10	0.49607	T	0.09	-6.3528	6.7397	0.23428	0.0:0.6843:0.1477:0.168	.	349;314	Q8N720-3;Q8N720	.;ZN655_HUMAN	C	314;349;349;314	ENSP00000252713:R314C;ENSP00000419135:R349C;ENSP00000393876:R349C;ENSP00000377718:R314C	ENSP00000252713:R314C	R	+	1	0	ZNF655	99008607	0.000000	0.05858	0.989000	0.46669	0.940000	0.58332	0.142000	0.16096	0.754000	0.32968	0.650000	0.86243	CGT		0.403	ZNF655-009	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000344929.1	NM_138494		6	97	0	0	0	1	0	6	97					T	99170671	C	T	99170671	3	4	250	1	0	0	0	0	1	0	0	0	18065	884	31	1	1477	1	ZNF655	7	99170671	Missense_Mutation	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08	54868039	99170671	59967992	37	5398											
FAM3C	10447	broad.mit.edu	37	chr7	121002954	121002955	+	Frame_Shift_Ins	INS	-	-	T													tgttatttatgcttacctccINStccccacatgtcaaaatatt							TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr7:121002954_121002955insT	ENST00000359943.3	-	7	591_592	c.378_379insA	c.(376-381)ggaggafs	p.G127fs		NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C	127					multicellular organismal development (GO:0007275)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	cytokine activity (GO:0005125)			kidney(1)|lung(8)	9	all_neural(327;0.117)					TGCTTACCTCCTCCCCACATGT	0.332																																						ENST00000359943.3																			0				kidney(1)|lung(8)	9						c.(376-381)gggagafs		family with sequence similarity 3, member C																																				SO:0001589	frameshift_variant	10447				multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity	g.chr7:121002954_121002955insT	D87120	CCDS5782.1	7q22.1-q31.1	2014-08-14			ENSG00000196937	ENSG00000196937			18664	protein-coding gene	gene with protein product	"predicted osteoblast protein", "interleukin-like EMT inducer", "interleukin-like epithelial-mesenchymal transition inducer"	608618				12160727	Standard	NM_014888		Approved	GS3876, ILEI	uc010lkm.3	Q92520	OTTHUMG00000156979	ENST00000359943.3:c.379dupA	7.37:g.121002955_121002955dupT	ENSP00000353025:p.Gly127fs						p.R127fs	NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN			7	591_592	-	all_neural(327;0.117)		127					A6NDN2|A8K3R7	Frame_Shift_Ins	INS	ENST00000359943.3	37	c.378_379insA	CCDS5782.1																																																																																				0.332	FAM3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346945.1	NM_001040020		7	49						7	49	---	---	---	---	T	121002955	-	T	121002954	7	5	250	1	0	1	1	0	0	0	0	0	5558	690	24	0	320	0	FAM3C	7	121002954	Frame_Shift_Ins	INS	-	TCGA-EL-A3ZO-01A-11D-A23M-08	21832283	121002954	38135709	38	5399											
PTPRZ1	5803	broad.mit.edu	37	chr7	121680999	121680999	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaggcagcctatgccaagCgccatgcagtggggcctgtt	14	11	0	0	rs142748552		TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr7:121680999C>T	ENST00000393386.2	+	21	6178	c.5767C>T	c.(5767-5769)Cgc>Tgc	p.R1923C	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.R1056C	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1923	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CTATGCCAAGCGCCATGCAGT	0.512													C|||	1	0.000199681	0	0.0014	5008	,	,		17165	0		0	False		,,,				2504	0					ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(5767-5769)Cgc>Tgc		protein tyrosine phosphatase, receptor-type, Z polypeptide 1		C	CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	74	66	69		3187,3166,5767	6.1	1.0	7	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	PTPRZ1	NM_001206838.1,NM_001206839.1,NM_002851.2	180,180,180	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,benign	1063/1456,1056/1449,1923/2316	121680999	2,13004	2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121680999C>T	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.5767C>T	7.37:g.121680999C>T	ENSP00000377047:p.Arg1923Cys					PTPRZ1_ENST00000449182.1_Missense_Mutation_p.R1056C	p.R1923C	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			21	6178	+			1923			Tyrosine-protein phosphatase 1.		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.5767C>T	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.682047	0.47991	2.27E-4	1.16E-4	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.15372	2.43;2.43	6.06	6.06	0.98353	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.080862	0.53938	D	0.000056	T	0.26159	0.0638	N	0.17345	0.48	0.44570	D	0.997534	B;B;D	0.89917	0.025;0.141;1.0	B;B;D	0.80764	0.011;0.07;0.994	T	0.02031	-1.1226	10	0.54805	T	0.06	.	13.7889	0.63128	0.0:0.9304:0.0:0.0696	.	1062;1056;1923	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	C	1923;1056	ENSP00000377047:R1923C;ENSP00000410000:R1056C	ENSP00000377047:R1923C	R	+	1	0	PTPRZ1	121468235	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.284000	0.51708	2.880000	0.98712	0.650000	0.86243	CGC		0.512	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		12	86	0	0	0	1	0	12	86					T	121680999	C	T	121680999	3	4	250	1	0	0	0	0	1	0	0	0	12814	768	27	1	5849	1	PTPRZ1	7	121680999	Missense_Mutation	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08	678045	121680999	37457664	39	5400											
PTPRZ1	5803	broad.mit.edu	37	chr7	121698953	121698953	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aacttataagtgttataaaaGaagaagctgccaatagggat	9	4	0	2			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr7:121698953G>C	ENST00000393386.2	+	28	7039	c.6628G>C	c.(6628-6630)Gaa>Caa	p.E2210Q	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.E1343Q	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2210	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TGTTATAAAAGAAGAAGCTGC	0.383																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(6628-6630)Gaa>Caa		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							112	118	116					7																	121698953		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121698953G>C	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.6628G>C	7.37:g.121698953G>C	ENSP00000377047:p.Glu2210Gln					PTPRZ1_ENST00000449182.1_Missense_Mutation_p.E1343Q	p.E2210Q	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			28	7039	+			2210			Tyrosine-protein phosphatase 2.		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.6628G>C	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387207	0.61956	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	D;D	0.83673	-1.75;-1.75	5.86	5.86	0.93980	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.071164	0.56097	D	0.000021	D	0.88100	0.6346	L	0.39566	1.225	0.46798	D	0.9992	P;D;D	0.63046	0.675;0.992;0.977	P;D;D	0.70487	0.447;0.969;0.915	D	0.86463	0.1780	10	0.41790	T	0.15	.	20.2019	0.98263	0.0:0.0:1.0:0.0	.	1349;1343;2210	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	Q	2210;1343	ENSP00000377047:E2210Q;ENSP00000410000:E1343Q	ENSP00000377047:E2210Q	E	+	1	0	PTPRZ1	121486189	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	4.793000	0.62474	2.776000	0.95493	0.655000	0.94253	GAA		0.383	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		9	78	0	0	0	1	0	9	78					C	121698953	G	C	121698953	3	2	250	1	0	0	0	0	1	0	0	0	12814	943	33	4	6738	4	PTPRZ1	7	121698953	Missense_Mutation	SNP	G	TCGA-EL-A3ZO-01A-11D-A23M-08	17954	121698953	37439710	40	5401											
WASL	8976	broad.mit.edu	37	chr7	123332450	123332450	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ggtctaacagtgcatctcgtCcagagcaggacactggccga	12	12	2	1			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr7:123332450C>G	ENST00000223023.4	-	9	1630	c.1298G>C	c.(1297-1299)gGa>gCa	p.G433A		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	433	WH2 2. {ECO:0000255|PROSITE- ProRule:PRU00406}.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGCATCTCGTCCAGAGCAGGA	0.398																																						ENST00000223023.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1297-1299)gGa>gCa		Wiskott-Aldrich syndrome-like							76	72	73					7																	123332450		2203	4300	6503	SO:0001583	missense	8976				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity	g.chr7:123332450C>G	D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.1298G>C	7.37:g.123332450C>G	ENSP00000223023:p.Gly433Ala						p.G433A	NM_003941.2	NP_003932.3	O00401	WASL_HUMAN			9	1630	-			433			WH2 2.		A1JUI9|Q7Z746	Missense_Mutation	SNP	ENST00000223023.4	37	c.1298G>C	CCDS34743.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021317	0.75275	.	.	ENSG00000106299	ENST00000223023	T	0.49720	0.77	5.64	5.64	0.86602	Wiscott-Aldrich syndrome, C-terminal (1);Actin-binding WH2 (3);	0.113374	0.64402	D	0.000008	T	0.69459	0.3113	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71224	-0.4656	10	0.87932	D	0	-16.9557	19.6847	0.95976	0.0:1.0:0.0:0.0	.	433	O00401	WASL_HUMAN	A	433	ENSP00000223023:G433A	ENSP00000223023:G433A	G	-	2	0	WASL	123119686	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.632000	0.83247	2.651000	0.90000	0.650000	0.86243	GGA		0.398	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941		18	99	0	0	0	1	0	18	99					G	123332450	C	G	123332450	3	3	250	1	0	0	0	0	1	0	0	0	17253	855	30	4	231	4	WASL	7	123332450	Missense_Mutation	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08	1633497	123332450	35806213	41	5402											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		21	55	0	0	0	1	0	21	55					T	140453136	A	T	140453136	3	4	250	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3ZO-01A-11D-A23M-08	17120686	140453136	18685527	42	5403											
RP1L1	94137	broad.mit.edu	37	chr8	10466364	10466364	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tctctgttgagtctctggctCccctcgccatcctcaccctc	6	19	3	1			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr8:10466364C>G	ENST00000382483.3	-	4	5467	c.5244G>C	c.(5242-5244)ggG>ggC	p.G1748G		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1828					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)		GTCTCTGGCTCCCCTCGCCAT	0.622																																						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.(5242-5244)ggG>ggC		retinitis pigmentosa 1-like 1							122	128	126					8																	10466364		2002	4187	6189	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10466364C>G	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.5244G>C	8.37:g.10466364C>G							p.G1748G	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	5467	-			1748					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.5244G>C	CCDS43708.1																																																																																				0.622	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			38	239	0	0	0	1	0	38	239					G	10466364	C	G	10466364	2	3	250	1	0	0	0	0	0	0	0	1	13533	842	30	4		4	RP1L1	8	10466364	Silent	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08		10466364	135897658	43	5404											
KCNS2	3788	broad.mit.edu	37	chr8	99440359	99440359	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ccgcttgctgctctgccactCgcgcgaggccattctggagc	12	16	2	0			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr8:99440359C>G	ENST00000287042.4	+	2	502	c.152C>G	c.(151-153)tCg>tGg	p.S51W	KCNS2_ENST00000521839.1_Missense_Mutation_p.S51W	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	51					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CTCTGCCACTCGCGCGAGGCC	0.637																																					Pancreas(138;844 2489 9202 24627)	ENST00000287042.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31						c.(151-153)tCg>tGg		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2							67	59	62					8																	99440359		2203	4300	6503	SO:0001583	missense	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99440359C>G	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.152C>G	8.37:g.99440359C>G	ENSP00000287042:p.Ser51Trp					KCNS2_ENST00000521839.1_Missense_Mutation_p.S51W	p.S51W	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	502	+	Breast(36;2.4e-06)		51					A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	c.152C>G	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	c	23.3	4.401918	0.83120	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	D;D	0.96856	-4.15;-4.15	5.4	5.4	0.78164	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.64402	D	0.000001	D	0.98560	0.9519	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99597	1.0977	10	0.87932	D	0	.	18.7928	0.91982	0.0:1.0:0.0:0.0	.	51	Q9ULS6	KCNS2_HUMAN	W	51	ENSP00000287042:S51W;ENSP00000430712:S51W	ENSP00000287042:S51W	S	+	2	0	KCNS2	99509535	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.815000	0.86186	2.523000	0.85059	0.558000	0.71614	TCG		0.637	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		14	108	0	0	0	1	0	14	108					G	99440359	C	G	99440359	3	3	250	1	0	0	0	0	1	0	0	0	8089	893	31	4	154	4	KCNS2	8	99440359	Missense_Mutation	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08	88973995	99440359	46923663	44	5405											
TRPS1	7227	broad.mit.edu	37	chr8	116616440	116616440	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tccaaggtgcttttctgggcTgcaaagtcctctgggacaga	12	10	2	1			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr8:116616440T>A	ENST00000220888.5	-	3	1876	c.1717A>T	c.(1717-1719)Agc>Tgc	p.S573C	TRPS1_ENST00000395715.3_Missense_Mutation_p.S586C|TRPS1_ENST00000520276.1_Missense_Mutation_p.S577C|TRPS1_ENST00000519674.1_Missense_Mutation_p.S573C|TRPS1_ENST00000519076.1_Intron			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	573					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TTTTCTGGGCTGCAAAGTCCT	0.448									Langer-Giedion syndrome																													ENST00000395715.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111						c.(1756-1758)Agc>Tgc		trichorhinophalangeal syndrome I							67	68	68					8																	116616440		1902	4122	6024	SO:0001583	missense	7227	Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116616440T>A	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"GATA zinc finger domain containing", "Zinc fingers, C2H2-type"	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.1717A>T	8.37:g.116616440T>A	ENSP00000220888:p.Ser573Cys					TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000220888.5_Missense_Mutation_p.S573C|TRPS1_ENST00000520276.1_Missense_Mutation_p.S577C|TRPS1_ENST00000519674.1_Missense_Mutation_p.S573C	p.S586C	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		4	2333	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		573					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.1756A>T		.	.	.	.	.	.	.	.	.	.	T	17.93	3.509381	0.64522	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000520276;ENST00000519674	T;T;T;T	0.15256	2.44;2.44;2.44;2.44	5.87	5.87	0.94306	.	0.200427	0.56097	D	0.000032	T	0.26955	0.0660	N	0.14661	0.345	0.44316	D	0.997191	D;D;D	0.76494	0.998;0.997;0.999	D;D;D	0.72338	0.966;0.926;0.977	T	0.13683	-1.0500	10	0.87932	D	0	.	16.5764	0.84681	0.0:0.0:0.0:1.0	.	577;573;586	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	C	586;573;577;573	ENSP00000379065:S586C;ENSP00000220888:S573C;ENSP00000428680:S577C;ENSP00000429174:S573C	ENSP00000220888:S573C	S	-	1	0	TRPS1	116685615	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.018000	0.70811	2.371000	0.80710	0.533000	0.62120	AGC		0.448	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		5	61	0	0	0	1	0	5	61					A	116616440	T	A	116616440	3	1	250	1	0	0	0	0	1	0	0	0	16590	1580	55	5	2144	5	TRPS1	8	116616440	Missense_Mutation	SNP	T	TCGA-EL-A3ZO-01A-11D-A23M-08	17176081	116616440	29747582	45	5406											
ATAD2	29028	broad.mit.edu	37	chr8	124373884	124373884	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tactgtggattgcatgccttCgcctaaagtaaaaaacaaaa	7	8	0	0			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr8:124373884C>T	ENST00000287394.5	-	9	1159	c.1052G>A	c.(1051-1053)cGa>cAa	p.R351Q	ATAD2_ENST00000521903.1_5'UTR|ATAD2_ENST00000534257.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	351					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TGCATGCCTTCGCCTAAAGTA	0.403																																						ENST00000287394.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.(1051-1053)cGa>cAa		ATPase family, AAA domain containing 2							118	115	116					8																	124373884		2203	4300	6503	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124373884C>T	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"ATPases / AAA-type"	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.1052G>A	8.37:g.124373884C>T	ENSP00000287394:p.Arg351Gln					ATAD2_ENST00000534257.1_5'UTR|ATAD2_ENST00000521903.1_5'UTR	p.R351Q	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		9	1159	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		351					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.1052G>A	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.515124	0.85389	.	.	ENSG00000156802	ENST00000287394	D	0.92495	-3.05	5.59	5.59	0.84812	.	0.615500	0.12902	U	0.429729	D	0.93341	0.7877	L	0.46157	1.445	0.80722	D	1	D;D	0.71674	0.998;0.977	D;B	0.63283	0.913;0.425	D	0.88937	0.3377	10	0.13108	T	0.6	-12.2165	15.1308	0.72520	0.142:0.858:0.0:0.0	.	181;351	Q6PL18-2;Q6PL18	.;ATAD2_HUMAN	Q	351	ENSP00000287394:R351Q	ENSP00000287394:R351Q	R	-	2	0	ATAD2	124443065	1.000000	0.71417	0.996000	0.52242	0.540000	0.34992	3.652000	0.54439	2.614000	0.88457	0.655000	0.94253	CGA		0.403	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		21	79	0	0	0	1	0	21	79					T	124373884	C	T	124373884	3	4	250	1	0	0	0	0	1	0	0	0	1071	884	31	1	3200	1	ATAD2	8	124373884	Missense_Mutation	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08	7757444	124373884	21990138	46	5407											
FER1L6	654463	broad.mit.edu	37	chr8	125022933	125022933	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcactggtccaacatgctGgagaaaatggcagacttcct	10	11	0	2			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr8:125022933G>A	ENST00000522917.1	+	14	2006	c.1800G>A	c.(1798-1800)ctG>ctA	p.L600L	FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Silent_p.L600L	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	600						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCAACATGCTGGAGAAAATGG	0.473																																						ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(1798-1800)ctG>ctA		fer-1-like 6 (C. elegans)							180	174	176					8																	125022933		2081	4243	6324	SO:0001819	synonymous_variant	654463					integral to membrane		g.chr8:125022933G>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.1800G>A	8.37:g.125022933G>A						FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Silent_p.L600L	p.L600L	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		14	2006	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		600						Silent	SNP	ENST00000522917.1	37	c.1800G>A	CCDS43767.1																																																																																				0.473	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		49	157	0	0	0	1	0	49	157					A	125022933	G	A	125022933	2	1	250	1	0	0	0	0	0	0	0	1	5815	1335	47	2		2	FER1L6	8	125022933	Silent	SNP	G	TCGA-EL-A3ZO-01A-11D-A23M-08	649049	125022933	21341089	47	5408											
TG	7038	broad.mit.edu	37	chr8	133900464	133900464	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acgcctgccaagctgctagtGaagatcatgagctacagaga	11	10	1	4			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr8:133900464G>A	ENST00000220616.4	+	10	2452	c.2412G>A	c.(2410-2412)gtG>gtA	p.V804V	TG_ENST00000377869.1_Silent_p.V804V	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	804	Thyroglobulin type-1 7. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGCTGCTAGTGAAGATCATGA	0.522																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(2410-2412)gtG>gtA		thyroglobulin							72	66	68					8																	133900464		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133900464G>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.2412G>A	8.37:g.133900464G>A						TG_ENST00000377869.1_Silent_p.V804V	p.V804V	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	10	2452	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	804			Thyroglobulin type-1 7.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.2412G>A	CCDS34944.1																																																																																				0.522	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		10	54	0	0	0	1	0	10	54					A	133900464	G	A	133900464	2	1	250	1	0	0	0	0	0	0	0	1	15810	1277	45	2		2	TG	8	133900464	Silent	SNP	G	TCGA-EL-A3ZO-01A-11D-A23M-08	8877531	133900464	12463558	48	5409											
PARP10	84875	broad.mit.edu	37	chr8	145060266	145060266	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acgcccccacagcccagtctCtgccagctcaacacaggtcc	7	20	2	0			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr8:145060266C>G	ENST00000313028.7	-	2	232	c.138G>C	c.(136-138)caG>caC	p.Q46H	PARP10_ENST00000524918.1_Missense_Mutation_p.Q46H|PARP10_ENST00000525773.1_Missense_Mutation_p.Q58H|PARP10_ENST00000533665.1_Intron	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	46					negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-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;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGCCCAGTCTCTGCCAGCTCA	0.622																																						ENST00000313028.7																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(136-138)caG>caC		poly (ADP-ribose) polymerase family, member 10							46	50	49					8																	145060266		2203	4300	6503	SO:0001583	missense	84875					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	g.chr8:145060266C>G	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"Poly (ADP-ribose) polymerases"	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.138G>C	8.37:g.145060266C>G	ENSP00000325618:p.Gln46His					PARP10_ENST00000533665.1_Intron|PARP10_ENST00000524918.1_Missense_Mutation_p.Q46H|PARP10_ENST00000525773.1_Missense_Mutation_p.Q58H	p.Q46H	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	232	-	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		46					Q8N2I0|Q8WV05|Q96CH7|Q96K72	Missense_Mutation	SNP	ENST00000313028.7	37	c.138G>C	CCDS34960.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335483	0.81801	.	.	ENSG00000178685	ENST00000524918;ENST00000313028;ENST00000525773;ENST00000313059;ENST00000525879;ENST00000528625;ENST00000525486;ENST00000531537;ENST00000529842;ENST00000528914;ENST00000528136;ENST00000529311;ENST00000530478;ENST00000532311;ENST00000531707	T;T;T;T;T;T;T;T;T;T;T;T	0.33654	3.39;3.39;3.39;1.4;3.39;3.39;3.39;3.39;3.39;3.39;3.39;3.39	4.36	4.36	0.52297	Nucleotide-binding, alpha-beta plait (1);	0.313831	0.23656	N	0.045862	T	0.46698	0.1406	L	0.48362	1.52	0.33612	D	0.603723	D;D;D	0.61080	0.978;0.989;0.978	P;P;P	0.59012	0.753;0.85;0.753	T	0.59721	-0.7401	10	0.52906	T	0.07	.	12.3134	0.54942	0.0:1.0:0.0:0.0	.	58;46;46	E9PNI7;E9PK67;Q53GL7	.;.;PAR10_HUMAN	H	46;46;58;46;46;46;46;46;46;46;46;46;46;46;46	ENSP00000431620:Q46H;ENSP00000325618:Q46H;ENSP00000434776:Q58H;ENSP00000314320:Q46H;ENSP00000436301:Q46H;ENSP00000431818:Q46H;ENSP00000435793:Q46H;ENSP00000432204:Q46H;ENSP00000436697:Q46H;ENSP00000434005:Q46H;ENSP00000431250:Q46H;ENSP00000434411:Q46H	ENSP00000325618:Q46H	Q	-	3	2	PARP10	145132254	0.000000	0.05858	0.997000	0.53966	0.763000	0.43281	0.233000	0.17911	2.262000	0.75019	0.645000	0.84053	CAG		0.622	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	NM_032789		21	111	0	0	0	1	0	21	111					G	145060266	C	G	145060266	3	3	250	1	0	0	0	0	1	0	0	0	11455	912	32	4	2979	4	PARP10	8	145060266	Missense_Mutation	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08	11159802	145060266	1303756	49	5410											
PTPN3	5774	broad.mit.edu	37	chr9	112189342	112189342	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcaacacaggatttccacaAgtttttgcaagatcggtaat	7	9	1	1			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr9:112189342A>G	ENST00000374541.2	-	12	993	c.889T>C	c.(889-891)Ttg>Ctg	p.L297L	PTPN3_ENST00000446349.1_Silent_p.L166L|PTPN3_ENST00000412145.1_Silent_p.L166L|PTPN3_ENST00000262539.3_Silent_p.L188L	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	297	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GATTTCCACAAGTTTTTGCAA	0.448																																						ENST00000412145.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(496-498)Ttg>Ctg		protein tyrosine phosphatase, non-receptor type 3							147	133	138					9																	112189342		2203	4300	6503	SO:0001819	synonymous_variant	0				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112189342A>G		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.889T>C	9.37:g.112189342A>G						PTPN3_ENST00000446349.1_Silent_p.L166L|PTPN3_ENST00000262539.3_Silent_p.L188L|PTPN3_ENST00000374541.2_Silent_p.L297L	p.L166L	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN			7	3049	-			297			FERM.		A0AUW9|E7EN99|E9PGU7	Silent	SNP	ENST00000374541.2	37	c.496T>C	CCDS6776.1																																																																																				0.448	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			9	53	0	0	0	1	0	9	53					G	112189342	A	G	112189342	2	3	250	1	0	0	0	0	0	0	0	1	12789	69	3	3		3	PTPN3	9	112189342	Silent	SNP	A	TCGA-EL-A3ZO-01A-11D-A23M-08		112189342	29024089	50	5411											
PPYR1	5540	broad.mit.edu	37	chr10	47087440	47087440	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	atctacaccaccttcctgctCctcttccagtactgcctccc	3	20	2	0			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr10:47087440C>G	ENST00000395716.1	+	2	742	c.657C>G	c.(655-657)ctC>ctG	p.L219L	NPY4R_ENST00000374312.1_Silent_p.L219L			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	219					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)										CCTTCCTGCTCCTCTTCCAGT	0.602																																						ENST00000374312.1																			0											c.(655-657)ctC>ctG		neuropeptide Y receptor Y4							206	164	178					10																	47087440		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr10:47087440C>G		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.657C>G	10.37:g.47087440C>G						NPY4R_ENST00000395716.1_Silent_p.L219L	p.L219L	NM_005972.4	NP_005963.3					3	1076	+								Q13456|Q5ISU3|Q5T2X9|Q6FH06	Silent	SNP	ENST00000395716.1	37	c.657C>G	CCDS31193.1																																																																																				0.602	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			13	305	0	0	0	1	0	13	305					G	47087440	C	G	47087440	2	3	250	1	0	0	0	0	0	0	0	1	12416	842	30	4		4	PPYR1	10	47087440	Silent	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08		47087440	88447307	51	5412											
C10orf72	196740	broad.mit.edu	37	chr10	50285331	50285331	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atgaagagcagaatgctgagGatccccacgcagcacacgag	12	11	0	4			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr10:50285331G>T	ENST00000332853.4	-	4	590	c.567C>A	c.(565-567)atC>atA	p.I189I		NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GAATGCTGAGGATCCCCACGC	0.527																																						ENST00000332853.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						c.(565-567)atC>atA		V-set and transmembrane domain containing 4							138	108	118					10																	50285331		2203	4300	6503	SO:0001819	synonymous_variant	196740					integral to membrane|plasma membrane		g.chr10:50285331G>T	BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"Immunoglobulin superfamily / V-set domain containing"	26470	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 72"	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.567C>A	10.37:g.50285331G>T							p.I189I	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN			4	590	-			189					B4DNI6|Q96MX7	Silent	SNP	ENST00000332853.4	37	c.567C>A	CCDS31198.1																																																																																				0.527	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047966.2	NM_144984		7	69	1	0	0.000442599	1	0.000458636	7	69					T	50285331	G	T	50285331	2	4	250	1	0	0	0	0	0	0	0	1	1615	1164	41	4		4	C10orf72	10	50285331	Silent	SNP	G	TCGA-EL-A3ZO-01A-11D-A23M-08	3197891	50285331	85249416	52	5413											
TET1	80312	broad.mit.edu	37	chr10	70405889	70405889	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttcaagtgtacacaataatCatggttcatcattaacaaaa	4	8	4	0			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr10:70405889C>T	ENST00000373644.4	+	4	3612	c.3403C>T	c.(3403-3405)Cat>Tat	p.H1135Y		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1135					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ACACAATAATCATGGTTCATC	0.393																																						ENST00000373644.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(3403-3405)Cat>Tat		tet methylcytosine dioxygenase 1							85	75	79					10																	70405889		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70405889C>T	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.3403C>T	10.37:g.70405889C>T	ENSP00000362748:p.His1135Tyr						p.H1135Y	NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN			4	3612	+			1135					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.3403C>T	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	C	2.686	-0.274220	0.05679	.	.	ENSG00000138336	ENST00000373644	T	0.06294	3.32	5.36	3.52	0.40303	.	1.545220	0.03640	N	0.239389	T	0.05090	0.0136	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43686	-0.9376	10	0.06891	T	0.86	.	6.9259	0.24414	0.0:0.674:0.0:0.326	.	1135	Q8NFU7	TET1_HUMAN	Y	1135	ENSP00000362748:H1135Y	ENSP00000362748:H1135Y	H	+	1	0	TET1	70075895	0.504000	0.26123	0.001000	0.08648	0.832000	0.47134	1.744000	0.38268	0.664000	0.31047	-0.373000	0.07131	CAT		0.393	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		8	52	0	0	0	1	0	8	52					T	70405889	C	T	70405889	3	4	250	1	0	0	0	0	1	0	0	0	15766	826	29	2	3413	2	TET1	10	70405889	Missense_Mutation	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08	20120558	70405889	65128858	53	5414											
DDIT4	54541	broad.mit.edu	37	chr10	74034832	74034832	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccaggggctgtttagctcCgccaactctcccttcctccc	7	18	1	0			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr10:74034832C>T	ENST00000307365.3	+	3	786	c.585C>T	c.(583-585)tcC>tcT	p.S195S	RP11-442H21.2_ENST00000491934.2_RNA	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	195					brain development (GO:0007420)|cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of glycolytic process (GO:0045820)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of TOR signaling (GO:0032007)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron death (GO:1901216)|protein complex disassembly (GO:0043241)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|mitochondrion (GO:0005739)				cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						TGTTTAGCTCCGCCAACTCTC	0.617											OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000307365.3																			0				cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.(583-585)tcC>tcT		DNA-damage-inducible transcript 4							27	28	28					10																	74034832		2203	4300	6503	SO:0001819	synonymous_variant	54541				apoptosis			g.chr10:74034832C>T	AK000507	CCDS7315.1	10q22.1	2008-05-14			ENSG00000168209	ENSG00000168209			24944	protein-coding gene	gene with protein product	"HIF-1 responsive RTP801"	607729				11884613	Standard	NM_019058		Approved	RTP801, FLJ20500, REDD-1, REDD1, Dig2	uc001jsx.1	Q9NX09	OTTHUMG00000018435	ENST00000307365.3:c.585C>T	10.37:g.74034832C>T			OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1149	RP11-442H21.2_ENST00000491934.2_RNA	p.S195S	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN			3	786	+			195					Q9H0S3	Silent	SNP	ENST00000307365.3	37	c.585C>T	CCDS7315.1																																																																																				0.617	DDIT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048577.1	NM_019058		4	38	0	0	0	1	0	4	38					T	74034832	C	T	74034832	2	4	250	1	0	0	0	0	0	0	0	1	4331	639	23	1		1	DDIT4	10	74034832	Silent	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08	3628943	74034832	61499915	54	5415											
VWA2	340706	broad.mit.edu	37	chr10	116021037	116021037	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	caggaagtgaaggcaagaatCaagaggatggttttcaagta	13	4	2	3			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr10:116021037C>G	ENST00000392982.3	+	5	604	c.354C>G	c.(352-354)atC>atG	p.I118M	VWA2_ENST00000603594.1_Missense_Mutation_p.I118M			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	118	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		AGGCAAGAATCAAGAGGATGG	0.463																																						ENST00000603594.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26						c.(352-354)atC>atG		von Willebrand factor A domain containing 2							120	111	114					10																	116021037		2203	4300	6503	SO:0001583	missense	340706					extracellular region		g.chr10:116021037C>G	AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.354C>G	10.37:g.116021037C>G	ENSP00000376708:p.Ile118Met					VWA2_ENST00000392982.3_Missense_Mutation_p.I118M	p.I118M	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN		Epithelial(162;0.036)|all cancers(201;0.0793)	5	675	+			118			VWFA 1.		A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	ENST00000392982.3	37	c.354C>G		.	.	.	.	.	.	.	.	.	.	C	9.699	1.153982	0.21371	.	.	ENSG00000165816	ENST00000392982;ENST00000298715	D	0.98381	-4.9	5.76	1.75	0.24633	von Willebrand factor, type A (3);	0.161363	0.56097	N	0.000040	D	0.96756	0.8941	M	0.78223	2.4	0.27769	N	0.94355	B;B	0.31931	0.347;0.298	B;B	0.36418	0.224;0.143	D	0.93313	0.6686	10	0.56958	D	0.05	.	5.6326	0.17518	0.136:0.5313:0.2623:0.0704	.	118;118	Q5GFL6;Q5GFL6-2	VWA2_HUMAN;.	M	118	ENSP00000376708:I118M	ENSP00000298715:I118M	I	+	3	3	VWA2	116011027	0.987000	0.35691	0.701000	0.30321	0.664000	0.39144	0.150000	0.16263	0.055000	0.16094	-0.175000	0.13238	ATC		0.463	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3	NM_198496		13	97	0	0	0	1	0	13	97					G	116021037	C	G	116021037	3	3	250	1	0	0	0	0	1	0	0	0	17236	816	29	4	368	4	VWA2	10	116021037	Missense_Mutation	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08	41986205	116021037	19513710	55	5416											
ARHGEF17	9828	broad.mit.edu	37	chr11	73021165	73021165	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaaaacctggtgggagctcCggggaccgtggaagcaaccc	15	12	0	0			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr11:73021165C>T	ENST00000263674.3	+	1	1832	c.1482C>T	c.(1480-1482)tcC>tcT	p.S494S	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	494					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GTGGGAGCTCCGGGGACCGTG	0.597																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(1480-1482)tcC>tcT		Rho guanine nucleotide exchange factor (GEF) 17							53	61	58					11																	73021165		2200	4293	6493	SO:0001819	synonymous_variant	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73021165C>T	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	21726	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.1482C>T	11.37:g.73021165C>T							p.S494S	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			1	1832	+			494					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	ENST00000263674.3	37	c.1482C>T	CCDS8221.1																																																																																				0.597	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		16	84	0	0	0	1	0	16	84					T	73021165	C	T	73021165	2	4	250	1	0	0	0	0	0	0	0	1	900	639	23	1		1	ARHGEF17	11	73021165	Silent	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08		73021165	61985351	56	5417											
CREBZF	58487	broad.mit.edu	37	chr11	85375852	85375852	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aacaagttgcagccggctccGggctctcactgcgggttggg	15	12	1	0			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr11:85375852G>C	ENST00000527447.1	-	1	294	c.68C>G	c.(67-69)cCg>cGg	p.P23R	CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000398294.2_5'Flank|CREBZF_ENST00000534224.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	23					negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				AGCCGGCTCCGGGCTCTCACT	0.726																																					NSCLC(172;674 2044 9050 18334 41735)	ENST00000527447.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(67-69)cCg>cGg		CREB/ATF bZIP transcription factor							10	12	11					11																	85375852		1735	3932	5667	SO:0001583	missense	58487				negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:85375852G>C	AF039942	CCDS41697.1	11q14.1	2013-01-10			ENSG00000137504	ENSG00000137504		"basic leucine zipper proteins"	24905	protein-coding gene	gene with protein product	"Zhangfei"	606444				10871379	Standard	NM_001039618		Approved	ZF	uc001pas.2	Q9NS37	OTTHUMG00000133648	ENST00000527447.1:c.68C>G	11.37:g.85375852G>C	ENSP00000433459:p.Pro23Arg					CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000534224.1_Intron	p.P23R	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN			1	294	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	23					B2R8Q9|Q0P5U9|Q52LT3	Missense_Mutation	SNP	ENST00000527447.1	37	c.68C>G	CCDS41697.1	.	.	.	.	.	.	.	.	.	.	G	3.911	-0.020065	0.07634	.	.	ENSG00000137504	ENST00000527447	.	.	.	4.78	1.8	0.24995	.	.	.	.	.	T	0.24967	0.0606	N	0.08118	0	0.48830	D	0.999719	B	0.11235	0.004	B	0.10450	0.005	T	0.04537	-1.0944	7	.	.	.	-8.6727	3.688	0.08335	0.093:0.1664:0.5687:0.1719	.	23	Q9NS37	ZHANG_HUMAN	R	23	.	.	P	-	2	0	CREBZF	85053500	0.871000	0.30034	0.393000	0.26258	0.067000	0.16453	1.090000	0.30902	0.411000	0.25702	0.655000	0.94253	CCG		0.726	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390191.2	NM_001039618		21	33	0	0	0	1	0	21	33					C	85375852	G	C	85375852	3	2	250	1	0	0	0	0	1	0	0	0	3863	1116	39	4	1000	4	CREBZF	11	85375852	Missense_Mutation	SNP	G	TCGA-EL-A3ZO-01A-11D-A23M-08	12354687	85375852	49630664	57	5418											
SLCO1C1	53919	broad.mit.edu	37	chr12	20903757	20903757	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaagcattcccgcatctcaTtgctacagcatcccagattt	5	13	1	1	rs10841611	byFrequency	TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr12:20903757T>C	ENST00000266509.2	+	14	2284				SLCO1C1_ENST00000540354.1_Intron|SLCO1C1_ENST00000381552.1_Silent_p.H649H|SLCO1C1_ENST00000545604.1_Silent_p.H649H|SLCO1C1_ENST00000545102.1_Silent_p.H531H	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1						sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.H649H(1)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	CCGCATCTCATTGCTACAGCA	0.378													C|||	2391	0.477436	0.1952	0.5735	5008	,	,		16607	0.5913		0.504	False		,,,				2504	0.6462					ENST00000381552.1																			1	Substitution - coding silent(1)	p.H649H(1)	kidney(1)	NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(1945-1947)caT>caC		solute carrier organic anion transporter family, member 1C1		C	,,,	1072,3334	722.3+/-409.3	137,798,1268	115	105	108		1593,,1947,	0.4	0.0	12	dbSNP_120	108	4722,3878	544.0+/-384.5	1285,2152,863	no	coding-synonymous,intron,coding-synonymous,intron	SLCO1C1	NM_001145944.1,NM_001145945.1,NM_001145946.1,NM_017435.4	,,,	1422,2950,2131	CC,CT,TT		45.093,24.3305,44.5487	,,,	531/613,,649/731,	20903757	5794,7212	2203	4300	6503	SO:0001627	intron_variant	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20903757T>C	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"Solute carriers"	13819	protein-coding gene	gene with protein product		613389	"solute carrier family 21 (organic anion transporter), member 14"	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1916+31T>C	12.37:g.20903757T>C						SLCO1C1_ENST00000266509.2_Intron|SLCO1C1_ENST00000545604.1_Silent_p.H649H|SLCO1C1_ENST00000545102.1_Silent_p.H531H|SLCO1C1_ENST00000540354.1_Intron	p.H649H			Q9NYB5	SO1C1_HUMAN			14	2315	+	Esophageal squamous(101;0.149)		0					B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Silent	SNP	ENST00000266509.2	37	c.1947T>C	CCDS8683.1																																																																																				0.378	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		5	57	0	0	0	1	0	5	57					C	20903757	T	C	20903757	1	2	250	0	1	0	0	0	0	0	0	0	14725	1490	52	3		3	SLCO1C1	12	20903757	Intron	SNP	T	TCGA-EL-A3ZO-01A-11D-A23M-08		20903757	112948138	58	5419											
APPL2	55198	broad.mit.edu	37	chr12	105591668	105591668	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctcccctgggctgacacatGagattcccgccttgggtgaa	12	13	0	3			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr12:105591668G>A	ENST00000258530.3	-	11	1152	c.927C>T	c.(925-927)ctC>ctT	p.L309L	APPL2_ENST00000549573.1_Intron|APPL2_ENST00000539978.2_Silent_p.L266L|APPL2_ENST00000551662.1_Silent_p.L315L	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.				cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GCTGACACATGAGATTCCCGC	0.547																																						ENST00000258530.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(925-927)ctC>ctT		adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2							79	78	79					12																	105591668		2203	4300	6503	SO:0001819	synonymous_variant	55198				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	g.chr12:105591668G>A	AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"Pleckstrin homology (PH) domain containing"	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.927C>T	12.37:g.105591668G>A						APPL2_ENST00000551662.1_Silent_p.L315L|APPL2_ENST00000549573.1_Intron|APPL2_ENST00000539978.2_Silent_p.L266L	p.L309L	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN			11	1152	-			309			PH.|Required for RAB5A binding (By similarity).		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Silent	SNP	ENST00000258530.3	37	c.927C>T	CCDS9101.1																																																																																				0.547	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	NM_018171		8	60	0	0	0	1	0	8	60					A	105591668	G	A	105591668	2	1	250	1	0	0	0	0	0	0	0	1	818	1277	45	2		2	APPL2	12	105591668	Silent	SNP	G	TCGA-EL-A3ZO-01A-11D-A23M-08	84687911	105591668	28260227	59	5420											
KDM2B	84678	broad.mit.edu	37	chr12	121958892	121958892	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtctacaggggtgtagacggCatggatccaacctggggtgg	17	8	1	1			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr12:121958892C>G	ENST00000377071.4	-	9	1015	c.943G>C	c.(943-945)Gcc>Ccc	p.A315P	KDM2B_ENST00000377069.4_Missense_Mutation_p.A284P|KDM2B_ENST00000536437.1_Missense_Mutation_p.A198P|KDM2B_ENST00000538046.2_Intron|KDM2B_ENST00000543852.1_Missense_Mutation_p.A84P	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	315	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GTGTAGACGGCATGGATCCAA	0.612																																						ENST00000377069.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(850-852)Gcc>Ccc		lysine (K)-specific demethylase 2B							64	67	66					12																	121958892		2084	4212	6296	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121958892C>G	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13610	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1B"	609078	"F-box and leucine-rich repeat protein 10"	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.943G>C	12.37:g.121958892C>G	ENSP00000366271:p.Ala315Pro					KDM2B_ENST00000543852.1_Missense_Mutation_p.A84P|KDM2B_ENST00000538046.2_Intron|KDM2B_ENST00000377071.4_Missense_Mutation_p.A315P|KDM2B_ENST00000536437.1_Missense_Mutation_p.A198P	p.A284P	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN			9	1256	-			315			JmjC.		A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.850G>C	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	C	34	5.400060	0.96030	.	.	ENSG00000089094	ENST00000397480;ENST00000377069;ENST00000377071;ENST00000536437;ENST00000397478;ENST00000261824;ENST00000446152;ENST00000542030;ENST00000538379;ENST00000545022;ENST00000543852;ENST00000541511	T;T;T;T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	5.87	5.87	0.94306	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.64402	D	0.000009	D	0.89104	0.6620	M	0.93720	3.45	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.90947	0.4802	10	0.87932	D	0	-17.4679	20.2079	0.98282	0.0:1.0:0.0:0.0	.	198;315;284	Q1RLM7;Q8NHM5;A8MRS1	.;KDM2B_HUMAN;.	P	315;284;315;198;315;315;278;17;84;84;84;84	ENSP00000366269:A284P;ENSP00000366271:A315P;ENSP00000445196:A198P;ENSP00000398279:A278P;ENSP00000444846:A17P;ENSP00000445102:A84P;ENSP00000437497:A84P;ENSP00000440942:A84P;ENSP00000442293:A84P	ENSP00000261824:A315P	A	-	1	0	KDM2B	120443275	1.000000	0.71417	0.996000	0.52242	0.940000	0.58332	7.487000	0.81328	2.781000	0.95711	0.655000	0.94253	GCC		0.612	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		5	43	0	0	0	1	0	5	43					G	121958892	C	G	121958892	3	3	250	1	0	0	0	0	1	0	0	0	8125	710	25	4	3179	4	KDM2B	12	121958892	Missense_Mutation	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08	16367224	121958892	11893003	60	5421											
ABCD4	5826	broad.mit.edu	37	chr14	74757084	74757084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatgagcaggctctgtccctCggagatctttaggctcagat	12	10	3	3	rs374984401		TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr14:74757084C>T	ENST00000356924.4	-	12	1380	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	ABCD4_ENST00000557554.1_5'UTR|ABCD4_ENST00000298816.7_Missense_Mutation_p.E309K|AC005519.4_ENST00000554532.2_RNA	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	413	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cobalamin metabolic process (GO:0009235)|transmembrane transport (GO:0055085)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		CTCTGTCCCTCGGAGATCTTT	0.592											OREG0022800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000356924.4																			0				cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(1237-1239)Gag>Aag		ATP-binding cassette, sub-family D (ALD), member 4		C	LYS/GLU	0,4406		0,0,2203	128	131	130		1237	1.3	0.9	14		130	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABCD4	NM_005050.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	413/607	74757084	1,13005	2203	4300	6503	SO:0001583	missense	5826					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr14:74757084C>T	AF009746	CCDS9828.1	14q24	2012-03-14			ENSG00000119688	ENSG00000119688		"ATP binding cassette transporters / subfamily D"	68	protein-coding gene	gene with protein product		603214		PXMP1L		9266848, 9302272	Standard	NR_003256		Approved	PMP69, P70R, EST352188	uc001xpr.2	O14678	OTTHUMG00000171207	ENST00000356924.4:c.1237G>A	14.37:g.74757084C>T	ENSP00000349396:p.Glu413Lys		OREG0022800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1155	ABCD4_ENST00000298816.7_Missense_Mutation_p.E309K|AC005519.4_ENST00000554532.2_RNA|ABCD4_ENST00000557554.1_5'UTR	p.E413K	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00153)	12	1380	-			413			ABC transporter.		A8K5L7|Q6IAQ0|Q96E75	Missense_Mutation	SNP	ENST00000356924.4	37	c.1237G>A	CCDS9828.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.198105	0.38806	0.0	1.16E-4	ENSG00000119688	ENST00000356924;ENST00000298816	D;D	0.99839	-3.28;-7.07	5.37	1.33	0.21861	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.221479	0.47455	D	0.000234	D	0.98040	0.9354	N	0.11756	0.17	0.36146	D	0.847124	B;B;B;B	0.19331	0.035;0.004;0.02;0.007	B;B;B;B	0.15052	0.012;0.003;0.005;0.003	D	0.99961	1.1741	10	0.13853	T	0.58	.	9.531	0.39193	0.0:0.5249:0.334:0.141	.	309;309;413;413	F8W7M4;B7Z4V6;A8K5L7;O14678	.;.;.;ABCD4_HUMAN	K	413;309	ENSP00000349396:E413K;ENSP00000298816:E309K	ENSP00000298816:E309K	E	-	1	0	ABCD4	73826837	0.998000	0.40836	0.887000	0.34795	0.900000	0.52787	2.934000	0.48956	0.388000	0.25054	0.561000	0.74099	GAG		0.592	ABCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314382.1	NM_005050		33	211	0	0	0	1	0	33	211					T	74757084	C	T	74757084	3	4	250	1	0	0	0	0	1	0	0	0	63	893	31	1	615	1	ABCD4	14	74757084	Missense_Mutation	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08		74757084	32592456	61	5422											
CLMN	79789	broad.mit.edu	37	chr14	95677084	95677084	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgatgctgaaagccttctcTagattttctcgtgtggaatt	10	8	2	2			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr14:95677084T>C	ENST00000298912.4	-	7	854	c.741A>G	c.(739-741)ctA>ctG	p.L247L		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	247	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		AAGCCTTCTCTAGATTTTCTC	0.512																																						ENST00000298912.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44						c.(739-741)ctA>ctG		calmin (calponin-like, transmembrane)							153	148	149					14																	95677084		2203	4300	6503	SO:0001819	synonymous_variant	79789					integral to membrane	actin binding	g.chr14:95677084T>C	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.741A>G	14.37:g.95677084T>C							p.L247L	NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	7	854	-			247			Actin-binding.|CH 2.		B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Silent	SNP	ENST00000298912.4	37	c.741A>G	CCDS9933.1																																																																																				0.512	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			82	142	0	0	0	1	0	82	142					C	95677084	T	C	95677084	2	2	250	1	0	0	0	0	0	0	0	1	3542	1509	53	3		3	CLMN	14	95677084	Silent	SNP	T	TCGA-EL-A3ZO-01A-11D-A23M-08	20920000	95677084	11672456	62	5423											
SPG11	80208	broad.mit.edu	37	chr15	44864971	44864971	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgacacagagtggtcagctGaagaaatgtctggctttcct	11	8	2	4			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr15:44864971G>A	ENST00000261866.7	-	33	6269	c.6253C>T	c.(6253-6255)Cag>Tag	p.Q2085*	SPG11_ENST00000535302.2_Nonsense_Mutation_p.Q1972*|SPG11_ENST00000427534.2_Nonsense_Mutation_p.Q2085*	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2085					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)		GTGGTCAGCTGAAGAAATGTC	0.468																																						ENST00000261866.7																			0				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						c.(6253-6255)Cag>Tag		spastic paraplegia 11 (autosomal recessive)							226	164	185					15																	44864971		2198	4298	6496	SO:0001587	stop_gained	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44864971G>A		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	ENST00000261866.7:c.6253C>T	15.37:g.44864971G>A	ENSP00000261866:p.Gln2085*					SPG11_ENST00000535302.2_Nonsense_Mutation_p.Q1972*|SPG11_ENST00000427534.2_Nonsense_Mutation_p.Q2085*	p.Q2085*	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN		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)	33	6269	-		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)	2085					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Nonsense_Mutation	SNP	ENST00000261866.7	37	c.6253C>T	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	G	46	12.798761	0.99697	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	.	.	.	5.65	4.72	0.59763	.	0.232716	0.45361	D	0.000378	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	14.8384	0.70201	0.0:0.1436:0.8564:0.0	.	.	.	.	X	2085;1972;2085	.	ENSP00000261866:Q2085X	Q	-	1	0	SPG11	42652263	1.000000	0.71417	0.900000	0.35374	0.980000	0.70556	4.821000	0.62679	1.485000	0.48380	0.655000	0.94253	CAG		0.468	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			11	86	0	0	0	1	0	11	86					A	44864971	G	A	44864971	4	1	250	1	0	0	0	0	0	1	0	0	15040	1299	45	2	1110	2	SPG11	15	44864971	Nonsense_Mutation	SNP	G	TCGA-EL-A3ZO-01A-11D-A23M-08		44864971	57666421	63	5424											
ALDH1A2	8854	broad.mit.edu	37	chr15	58253454	58253454	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctttcgataacttcatccatCgtcttaaatctcaaaatttc	2	11	3	0	rs267604270		TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr15:58253454C>T	ENST00000249750.4	-	11	2057	c.1290G>A	c.(1288-1290)acG>acA	p.T430T	ALDH1A2_ENST00000537372.1_Silent_p.T409T|ALDH1A2_ENST00000559517.1_Silent_p.T334T|ALDH1A2_ENST00000347587.3_Silent_p.T392T|ALDH1A2_ENST00000558231.1_Silent_p.T401T	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	430					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	CTTCATCCATCGTCTTAAATC	0.408																																						ENST00000249750.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1288-1290)acG>acA		aldehyde dehydrogenase 1 family, member A2	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						90	83	85					15																	58253454		2192	4292	6484	SO:0001819	synonymous_variant	8854				negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	g.chr15:58253454C>T	AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"Aldehyde dehydrogenases"	15472	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 2"	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.1290G>A	15.37:g.58253454C>T						ALDH1A2_ENST00000347587.3_Silent_p.T392T|ALDH1A2_ENST00000559517.1_Silent_p.T334T|ALDH1A2_ENST00000537372.1_Silent_p.T409T|ALDH1A2_ENST00000558231.1_Silent_p.T401T	p.T430T	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	11	2057	-			430					B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Silent	SNP	ENST00000249750.4	37	c.1290G>A	CCDS10163.1																																																																																				0.408	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1			7	38	0	0	0	1	0	7	38					T	58253454	C	T	58253454	2	4	250	1	0	0	0	0	0	0	0	1	491	871	31	1		1	ALDH1A2	15	58253454	Silent	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08	13388483	58253454	44277938	64	5425											
SCAPER	49855	broad.mit.edu	37	chr15	76995317	76995317	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctttgttcaatctgttcCatgtgccttcgaatactttc	5	10	3	0			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr15:76995317C>T	ENST00000563290.1	-	19	2369	c.2274G>A	c.(2272-2274)atG>atA	p.M758I	SCAPER_ENST00000538941.2_Missense_Mutation_p.M512I|SCAPER_ENST00000324767.7_Missense_Mutation_p.M758I			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	758	Glu-rich.					endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						CAATCTGTTCCATGTGCCTTC	0.353																																						ENST00000538941.2																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						c.(1534-1536)atG>atA		S-phase cyclin A-associated protein in the ER							87	87	87					15																	76995317		1862	4112	5974	SO:0001583	missense	49855					endoplasmic reticulum|nucleus	zinc ion binding	g.chr15:76995317C>T	AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"Zinc fingers, C2H2-type"	13081	protein-coding gene	gene with protein product		611611	"zinc finger protein 291"	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.2274G>A	15.37:g.76995317C>T	ENSP00000454973:p.Met758Ile					SCAPER_ENST00000324767.7_Missense_Mutation_p.M758I|SCAPER_ENST00000563290.1_Missense_Mutation_p.M758I	p.M512I	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN			19	2475	-			757			Glu-rich.		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	37	c.1536G>A	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.551615	0.65311	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.23348	1.93;1.91	5.8	5.8	0.92144	.	0.035574	0.85682	D	0.000000	T	0.16257	0.0391	N	0.08118	0	0.58432	D	0.999999	B;P;B	0.36789	0.079;0.57;0.213	B;B;B	0.33454	0.065;0.164;0.108	T	0.07139	-1.0788	10	0.38643	T	0.18	.	20.0589	0.97667	0.0:1.0:0.0:0.0	.	757;779;512	Q9BY12;Q9BY12-2;F5H7X8	SCAPE_HUMAN;.;.	I	758;512;780	ENSP00000326924:M758I;ENSP00000442190:M512I	ENSP00000303560:M780I	M	-	3	0	SCAPER	74782372	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.732000	0.93576	0.650000	0.86243	ATG		0.353	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843		26	65	0	0	0	1	0	26	65					T	76995317	C	T	76995317	3	4	250	1	0	0	0	0	1	0	0	0	13878	594	21	2	1984	2	SCAPER	15	76995317	Missense_Mutation	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08	18741863	76995317	25536075	65	5426											
THOC6	79228	broad.mit.edu	37	chr16	3076528	3076528	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctccacaggagaattccctCatcctggctgggggagactg	12	13	1	2			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr16:3076528C>T	ENST00000326266.8	+	7	719	c.423C>T	c.(421-423)ctC>ctT	p.L141L	HCFC1R1_ENST00000574980.1_5'Flank|HCFC1R1_ENST00000248089.3_5'Flank|HCFC1R1_ENST00000574151.1_5'Flank|THOC6_ENST00000574549.1_Silent_p.L117L|THOC6_ENST00000253952.9_Silent_p.L141L|THOC6_ENST00000575576.1_Silent_p.L117L|HCFC1R1_ENST00000354679.3_5'Flank|HCFC1R1_ENST00000572355.1_5'Flank|HCFC1R1_ENST00000396916.1_5'Flank	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	141					apoptotic process (GO:0006915)|central nervous system development (GO:0007417)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						AGAATTCCCTCATCCTGGCTG	0.527																																						ENST00000326266.8																			0				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						c.(421-423)ctC>ctT		THO complex 6 homolog (Drosophila)							78	73	75					16																	3076528		2198	4300	6498	SO:0001819	synonymous_variant	79228				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding	g.chr16:3076528C>T	BC050674	CCDS10491.1, CCDS45392.1	16p13.3	2013-02-11	2006-03-02	2006-03-02		ENSG00000131652		"WD repeat domain containing", "THO complex subunits"	28369	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 35"	615403	"WD repeat domain 58"	WDR58		12477932	Standard	NM_024339		Approved	MGC2655, fSAP35	uc002ctb.2	Q86W42		ENST00000326266.8:c.423C>T	16.37:g.3076528C>T						THOC6_ENST00000575576.1_Silent_p.L117L|THOC6_ENST00000574549.1_Silent_p.L117L|THOC6_ENST00000253952.9_Silent_p.L141L	p.L141L	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN			7	719	+			141					B2RA85|Q8NBR1|Q9BTV9	Silent	SNP	ENST00000326266.8	37	c.423C>T	CCDS10491.1																																																																																				0.527	THOC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436981.1	NM_024339		5	32	0	0	0	1	0	5	32					T	3076528	C	T	3076528	2	4	250	1	0	0	0	0	0	0	0	1	15866	813	29	2		2	THOC6	16	3076528	Silent	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08		3076528	87278225	66	5427											
BTBD12	84464	broad.mit.edu	37	chr16	3640002	3640002	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcatcctcctgctgcagcaCagcttcgcttcttggtgggc	10	15	2	0			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr16:3640002C>G	ENST00000294008.3	-	12	4277	c.3637G>C	c.(3637-3639)Gtg>Ctg	p.V1213L		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1213	Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TGCTGCAGCACAGCTTCGCTT	0.577								Direct reversal of damage																														ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(3637-3639)Gtg>Ctg	Direct reversal of damage	SLX4 structure-specific endonuclease subunit							56	60	59					16																	3640002		2197	4300	6497	SO:0001583	missense	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3640002C>G	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.3637G>C	16.37:g.3640002C>G	ENSP00000294008:p.Val1213Leu						p.V1213L	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			12	4277	-			1213			Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.3637G>C	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740428	0.30865	.	.	ENSG00000188827	ENST00000294008	T	0.17213	2.29	6.07	-2.53	0.06326	.	1.463100	0.03997	N	0.295927	T	0.07458	0.0188	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.25293	-1.0136	10	0.28530	T	0.3	.	1.9565	0.03377	0.2069:0.4245:0.2033:0.1653	.	1213	Q8IY92	SLX4_HUMAN	L	1213	ENSP00000294008:V1213L	ENSP00000294008:V1213L	V	-	1	0	SLX4	3580003	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.839000	0.04368	-0.746000	0.04766	-0.152000	0.13540	GTG		0.577	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		25	142	0	0	0	1	0	25	142					G	3640002	C	G	3640002	3	3	250	1	0	0	0	0	1	0	0	0	1540	478	17	4	1883	4	BTBD12	16	3640002	Missense_Mutation	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08	563474	3640002	86714751	67	5428											
BTBD12	84464	broad.mit.edu	37	chr16	3647621	3647621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccacacggtcctctatctgtCggcctgtggtttcagagtcc	10	14	3	1	rs145194745		TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr16:3647621C>T	ENST00000294008.3	-	7	2082	c.1442G>A	c.(1441-1443)cGa>cAa	p.R481Q		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	481	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CTCTATCTGTCGGCCTGTGGT	0.517								Direct reversal of damage					C|||	1	0.000199681	0	0	5008	,	,		17535	0.001		0	False		,,,				2504	0					ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(1441-1443)cGa>cAa	Direct reversal of damage	SLX4 structure-specific endonuclease subunit		C	GLN/ARG	1,4393	2.1+/-5.4	0,1,2196	77	84	81		1442	3.0	0.0	16	dbSNP_134	81	0,8600		0,0,4300	yes	missense	SLX4	NM_032444.2	43	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging	481/1835	3647621	1,12993	2197	4300	6497	SO:0001583	missense	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3647621C>T	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.1442G>A	16.37:g.3647621C>T	ENSP00000294008:p.Arg481Gln						p.R481Q	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			7	2082	-			481			Interaction with C20orf94, ERCC4 and MSH2.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.1442G>A	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	16.17	3.046387	0.55110	2.28E-4	0.0	ENSG00000188827	ENST00000294008	T	0.01272	5.07	5.34	3.03	0.35002	.	0.206555	0.33057	N	0.005323	T	0.00906	0.0030	N	0.17631	0.505	0.09310	N	1	P	0.48503	0.911	B	0.31946	0.138	T	0.58272	-0.7665	10	0.30078	T	0.28	.	9.3657	0.38223	0.0:0.6978:0.0:0.3022	.	481	Q8IY92	SLX4_HUMAN	Q	481	ENSP00000294008:R481Q	ENSP00000294008:R481Q	R	-	2	0	SLX4	3587622	0.000000	0.05858	0.019000	0.16419	0.867000	0.49689	0.507000	0.22675	1.246000	0.43901	0.655000	0.94253	CGA		0.517	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		27	126	0	0	0	1	0	27	126					T	3647621	C	T	3647621	3	4	250	1	0	0	0	0	1	0	0	0	1540	884	31	1	4098	1	BTBD12	16	3647621	Missense_Mutation	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08	7619	3647621	86707132	68	5429											
GRIN2A	2903	broad.mit.edu	37	chr16	9858772	9858772	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggagacttcttcttttcttCaatgtgcactccatgaatgc	7	10	4	2			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr16:9858772C>T	ENST00000396573.2	-	14	2938	c.2629G>A	c.(2629-2631)Gaa>Aaa	p.E877K	GRIN2A_ENST00000396575.2_Missense_Mutation_p.E877K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.E877K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.E877K|GRIN2A_ENST00000535259.1_Missense_Mutation_p.E720K|GRIN2A_ENST00000404927.2_Missense_Mutation_p.E877K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	877					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTCTTTTCTTCAATGTGCACT	0.468																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(2629-2631)Gaa>Aaa		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						115	107	109					16																	9858772		2197	4300	6497	SO:0001583	missense	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9858772C>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2629G>A	16.37:g.9858772C>T	ENSP00000379818:p.Glu877Lys					GRIN2A_ENST00000396575.2_Missense_Mutation_p.E877K|GRIN2A_ENST00000404927.2_Missense_Mutation_p.E877K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.E877K|GRIN2A_ENST00000535259.1_Missense_Mutation_p.E720K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.E877K	p.E877K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			14	2938	-			877					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.2629G>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378134	0.82682	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.13538	2.58;2.61;2.62;2.58;2.58	5.52	5.52	0.82312	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.043793	0.85682	D	0.000000	T	0.39118	0.1066	M	0.74881	2.28	0.58432	D	0.999992	D;D;P	0.61697	0.967;0.99;0.77	D;D;B	0.70487	0.911;0.969;0.396	T	0.05517	-1.0880	9	.	.	.	.	18.4623	0.90743	0.0:1.0:0.0:0.0	.	720;877;877	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	K	877;877;720;877;877	ENSP00000379818:E877K;ENSP00000385872:E877K;ENSP00000441572:E720K;ENSP00000332549:E877K;ENSP00000379820:E877K	.	E	-	1	0	GRIN2A	9766273	1.000000	0.71417	0.982000	0.44146	0.983000	0.72400	7.395000	0.79876	2.595000	0.87683	0.655000	0.94253	GAA		0.468	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			38	95	0	0	0	1	0	38	95					T	9858772	C	T	9858772	3	4	250	1	0	0	0	0	1	0	0	0	6779	835	29	2	1769	2	GRIN2A	16	9858772	Missense_Mutation	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08	6211151	9858772	80495981	69	5430											
BRD7	29117	broad.mit.edu	37	chr16	50354303	50354303	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttctggaatatttcagcttCtgtgtggtaagaaaacagac	9	7	3	2	rs540625147		TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr16:50354303C>T	ENST00000394688.3	-	15	1772		c.e15-1		BRD7_ENST00000394689.2_Splice_Site			Q9NPI1	BRD7_HUMAN	bromodomain containing 7						cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				ATTTCAGCTTCTGTGTGGTAA	0.463													C|||	1	0.000199681	8e-04	0	5008	,	,		21008	0		0	False		,,,				2504	0					ENST00000394688.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22						c.e15-1		bromodomain containing 7							99	97	97					16																	50354303		2198	4300	6498	SO:0001630	splice_region_variant	29117				cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:50354303C>T	AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"bromodomain-containing 7"			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.1613-1G>A	16.37:g.50354303C>T						BRD7_ENST00000394689.2_Splice_Site				Q9NPI1	BRD7_HUMAN			15	1772	-		all_cancers(37;0.0127)						Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Splice_Site	SNP	ENST00000394688.3	37		CCDS10742.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942537	0.73672	.	.	ENSG00000166164	ENST00000394688;ENST00000394689	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5306	0.95228	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BRD7	48911804	1.000000	0.71417	0.996000	0.52242	0.909000	0.53808	7.442000	0.80503	2.665000	0.90641	0.655000	0.94253	.		0.463	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3	NM_013263	Intron	11	81	0	0	0	1	0	11	81					T	50354303	C	T	50354303	5	4	250	1	0	0	0	0	0	0	1	0	1505	927	32	2	355	2	BRD7	16	50354303	Splice_Site	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08	40495531	50354303	40000450	70	5431											
CNOT1	23019	broad.mit.edu	37	chr16	58621113	58621113	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaagtaactcaccgaaacctCtaagatctgagctggaagaa	8	9	3	3			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr16:58621113C>G	ENST00000317147.5	-	6	757	c.425G>C	c.(424-426)aGa>aCa	p.R142T	CNOT1_ENST00000441024.2_Missense_Mutation_p.R142T|CNOT1_ENST00000569240.1_Missense_Mutation_p.R142T	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	142					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|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)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		ACCGAAACCTCTAAGATCTGA	0.358																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(424-426)aGa>aCa		CCR4-NOT transcription complex, subunit 1							91	95	93					16																	58621113		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58621113C>G	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.425G>C	16.37:g.58621113C>G	ENSP00000320949:p.Arg142Thr					CNOT1_ENST00000569240.1_Missense_Mutation_p.R142T|CNOT1_ENST00000441024.2_Missense_Mutation_p.R142T	p.R142T	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	6	757	-			142					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.425G>C	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.317345	0.60524	.	.	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	T;T	0.22945	1.93;1.93	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.32071	0.0817	M	0.65975	2.015	0.80722	D	1	P;P;P	0.43938	0.557;0.51;0.822	B;B;B	0.39258	0.295;0.066;0.194	T	0.07751	-1.0756	9	.	.	.	-8.8926	19.6599	0.95861	0.0:1.0:0.0:0.0	.	142;142;142	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	T	142	ENSP00000320949:R142T;ENSP00000413113:R142T	.	R	-	2	0	CNOT1	57178614	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	4.826000	0.62715	2.651000	0.90000	0.561000	0.74099	AGA		0.358	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		9	54	0	0	0	1	0	9	54					G	58621113	C	G	58621113	3	3	250	1	0	0	0	0	1	0	0	0	3617	913	32	4	7103	4	CNOT1	16	58621113	Missense_Mutation	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08	8266810	58621113	31733640	71	5432											
NFAT5	10725	broad.mit.edu	37	chr16	69727140	69727140	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agcctccaatgtttcactctCaaagtaccattgctgtgtta	6	11	2	0			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr16:69727140C>T	ENST00000354436.2	+	12	3676	c.3358C>T	c.(3358-3360)Caa>Taa	p.Q1120*	NFAT5_ENST00000393742.2_Nonsense_Mutation_p.Q1044*|NFAT5_ENST00000567239.1_Nonsense_Mutation_p.Q1137*|NFAT5_ENST00000349945.1_Nonsense_Mutation_p.Q1044*|NFAT5_ENST00000432919.1_Nonsense_Mutation_p.Q1138*|NFAT5_ENST00000566899.1_Nonsense_Mutation_p.Q1044*	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1120					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q1044K(1)|p.Q1138K(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GTTTCACTCTCAAAGTACCAT	0.428																																						ENST00000349945.1																			2	Substitution - Missense(2)	p.Q1044K(1)|p.Q1138K(1)	kidney(2)	NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3130-3132)Caa>Taa		nuclear factor of activated T-cells 5, tonicity-responsive							106	108	107					16																	69727140		2198	4300	6498	SO:0001587	stop_gained	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69727140C>T	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"Nuclear factor of activated T-cells"	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.3358C>T	16.37:g.69727140C>T	ENSP00000346420:p.Gln1120*					NFAT5_ENST00000567239.1_Nonsense_Mutation_p.Q1137*|NFAT5_ENST00000432919.1_Nonsense_Mutation_p.Q1138*|NFAT5_ENST00000393742.2_Nonsense_Mutation_p.Q1044*|NFAT5_ENST00000354436.2_Nonsense_Mutation_p.Q1120*|NFAT5_ENST00000566899.1_Nonsense_Mutation_p.Q1044*	p.Q1044*	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			14	4682	+			1120					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Nonsense_Mutation	SNP	ENST00000354436.2	37	c.3130C>T	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	C	41	8.620910	0.98888	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	.	.	.	5.83	5.83	0.93111	.	0.269957	0.38605	N	0.001636	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-1.5194	20.1162	0.97934	0.0:1.0:0.0:0.0	.	.	.	.	X	1138;1137;1044;1120;1044	.	ENSP00000338806:Q1044X	Q	+	1	0	NFAT5	68284641	1.000000	0.71417	0.989000	0.46669	0.993000	0.82548	5.790000	0.69038	2.756000	0.94617	0.655000	0.94253	CAA		0.428	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		8	176	0	0	0	1	0	8	176					T	69727140	C	T	69727140	4	4	250	1	0	0	0	0	0	1	0	0	10360	827	29	2	3462	2	NFAT5	16	69727140	Nonsense_Mutation	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08	11106027	69727140	20627613	72	5433											
PSMD7	5713	broad.mit.edu	37	chr16	74336136	74336136	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcatcattgatgtgaagccGaaggacctagggctgcctac	12	10	2	2	rs541071308		TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr16:74336136G>A	ENST00000219313.4	+	5	524	c.384G>A	c.(382-384)ccG>ccA	p.P128P	PSMD7_ENST00000540379.1_Silent_p.P51P|PSMD7_ENST00000567958.1_Silent_p.P128P|AC009120.6_ENST00000566411.1_RNA|PSMD7_ENST00000568615.2_Silent_p.P128P	NM_002811.4	NP_002802.2	P51665	PSMD7_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 7	128					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 ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|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)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	protein homodimerization activity (GO:0042803)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	15						ATGTGAAGCCGAAGGACCTAG	0.458													.|||	1	0.000199681	8e-04	0	5008	,	,		19721	0		0	False		,,,				2504	0					ENST00000219313.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	15						c.(382-384)ccG>ccA		proteasome (prosome, macropain) 26S subunit, non-ATPase, 7							170	150	157					16																	74336136		2198	4300	6498	SO:0001819	synonymous_variant	5713				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 ubiquitin-protein ligase activity involved in mitotic cell cycle|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|viral reproduction	proteasome regulatory particle	protein binding	g.chr16:74336136G>A	D50063	CCDS10910.1	16q22.3	2010-10-15	2007-07-06		ENSG00000103035	ENSG00000103035		"Proteasome (prosome, macropain) subunits"	9565	protein-coding gene	gene with protein product	"Mov34 homolog"	157970	"proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 (Mov34 homolog)"			7755639	Standard	NM_002811		Approved	S12, P40, MOV34, Rpn8	uc002fcq.3	P51665	OTTHUMG00000137601	ENST00000219313.4:c.384G>A	16.37:g.74336136G>A						PSMD7_ENST00000568615.2_Silent_p.P128P|PSMD7_ENST00000540379.1_Silent_p.P51P|PSMD7_ENST00000567958.1_Silent_p.P128P	p.P128P	NM_002811.4	NP_002802.2	P51665	PSD7_HUMAN			5	524	+			128					D3DWS9|Q6PKI2|Q96E97	Silent	SNP	ENST00000219313.4	37	c.384G>A	CCDS10910.1																																																																																				0.458	PSMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269010.2	NM_002811		11	88	0	0	0	1	0	11	88					A	74336136	G	A	74336136	2	1	250	1	0	0	0	0	0	0	0	1	12703	1045	37	1		1	PSMD7	16	74336136	Silent	SNP	G	TCGA-EL-A3ZO-01A-11D-A23M-08	4608996	74336136	16018617	73	5434											
CRISPLD2	83716	broad.mit.edu	37	chr16	84911073	84911073	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggactgctacacgaccgttGctcagctgtgcccgtttgaa	11	12	1	1			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr16:84911073G>A	ENST00000262424.5	+	12	1410	c.1186G>A	c.(1186-1188)Gct>Act	p.A396T	CRISPLD2_ENST00000564567.1_Missense_Mutation_p.A396T|CRISPLD2_ENST00000567845.1_Missense_Mutation_p.A395T	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	396	LCCL 2. {ECO:0000255|PROSITE- ProRule:PRU00123}.				extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|lung development (GO:0030324)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|transport vesicle (GO:0030133)	heparin binding (GO:0008201)			endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						CACGACCGTTGCTCAGCTGTG	0.537																																						ENST00000262424.5																			0				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						c.(1186-1188)Gct>Act		cysteine-rich secretory protein LCCL domain containing 2							156	120	132					16																	84911073		2199	4300	6499	SO:0001583	missense	83716					extracellular region|transport vesicle		g.chr16:84911073G>A	AL136861	CCDS10949.1	16q24.1	2008-02-05	2005-02-16	2005-02-16	ENSG00000103196	ENSG00000103196			25248	protein-coding gene	gene with protein product		612434	"LCCL domain containing cysteine-rich secretory protein 2"	LCRISP2		11230166	Standard	NM_031476		Approved	DKFZP434B044	uc010voh.1	Q9H0B8	OTTHUMG00000137644	ENST00000262424.5:c.1186G>A	16.37:g.84911073G>A	ENSP00000262424:p.Ala396Thr					CRISPLD2_ENST00000564567.1_Missense_Mutation_p.A396T|CRISPLD2_ENST00000567845.1_Missense_Mutation_p.A395T	p.A396T	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN			12	1410	+			396			LCCL 2.		D3DUM0|Q6P590|Q6UWH0|Q6UXC6|Q96IB1|Q96K61	Missense_Mutation	SNP	ENST00000262424.5	37	c.1186G>A	CCDS10949.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326450	0.81690	.	.	ENSG00000103196	ENST00000262424	D	0.89270	-2.49	5.07	5.07	0.68467	LCCL (5);	0.000000	0.85682	D	0.000000	D	0.94235	0.8149	M	0.82923	2.615	0.80722	D	1	D;P	0.65815	0.995;0.917	D;P	0.65987	0.94;0.637	D	0.94364	0.7590	10	0.52906	T	0.07	.	16.3751	0.83382	0.0:0.0:1.0:0.0	.	396;396	Q9H0B8;Q9H0B8-2	CRLD2_HUMAN;.	T	396	ENSP00000262424:A396T	ENSP00000262424:A396T	A	+	1	0	CRISPLD2	83468574	1.000000	0.71417	0.922000	0.36590	0.553000	0.35397	7.568000	0.82369	2.533000	0.85409	0.556000	0.70494	GCT		0.537	CRISPLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269086.2	NM_031476		6	105	0	0	0	1	0	6	105					A	84911073	G	A	84911073	3	1	250	1	0	0	0	0	1	0	0	0	3883	1319	46	2	1228	2	CRISPLD2	16	84911073	Missense_Mutation	SNP	G	TCGA-EL-A3ZO-01A-11D-A23M-08	10574937	84911073	5443680	74	5435											
MYH10	4628	broad.mit.edu	37	chr17	8381712	8381712	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcaacctgcatgaagatttCtttcagcttcttctcagtgc	6	12	5	2			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr17:8381712C>A	ENST00000269243.4	-	39	5695	c.5557G>T	c.(5557-5559)Gaa>Taa	p.E1853*	NDEL1_ENST00000299734.7_Intron|MYH10_ENST00000379980.4_Nonsense_Mutation_p.E1869*|MYH10_ENST00000360416.3_Nonsense_Mutation_p.E1884*|MYH10_ENST00000396239.1_Nonsense_Mutation_p.E1874*	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1853					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						ATGAAGATTTCTTTCAGCTTC	0.493																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(5650-5652)Gaa>Taa		myosin, heavy chain 10, non-muscle							161	135	144					17																	8381712		2203	4300	6503	SO:0001587	stop_gained	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8381712C>A	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.5557G>T	17.37:g.8381712C>A	ENSP00000269243:p.Glu1853*					MYH10_ENST00000396239.1_Nonsense_Mutation_p.E1874*|NDEL1_ENST00000299734.7_Intron|MYH10_ENST00000269243.4_Nonsense_Mutation_p.E1853*|MYH10_ENST00000379980.4_Nonsense_Mutation_p.E1869*	p.E1884*	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			41	5788	-			1853					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Nonsense_Mutation	SNP	ENST00000269243.4	37	c.5650G>T	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	46	12.481818	0.99671	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	.	.	.	4.9	4.9	0.64082	.	0.103125	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.6313	0.91360	0.0:1.0:0.0:0.0	.	.	.	.	X	1853;1884;1874;1869	.	ENSP00000269243:E1853X	E	-	1	0	MYH10	8322437	1.000000	0.71417	0.960000	0.40013	0.998000	0.95712	7.609000	0.82925	2.717000	0.92951	0.655000	0.94253	GAA		0.493	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			14	108	1	0	7.93312e-07	1	8.40323e-07	14	108					A	8381712	C	A	8381712	4	1	250	1	0	0	0	0	0	1	0	0	10030	922	32	4	385	4	MYH10	17	8381712	Nonsense_Mutation	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08		8381712	72813498	75	5436											
ATAD5	79915	broad.mit.edu	37	chr17	29203482	29203482	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggaccaaagcgagcacttcCtcccaaaaccttggcaaatt	7	13	0	0			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr17:29203482C>G	ENST00000321990.4	+	15	4076	c.3698C>G	c.(3697-3699)cCt>cGt	p.P1233R		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1233					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CGAGCACTTCCTCCCAAAACC	0.353																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(3697-3699)cCt>cGt		ATPase family, AAA domain containing 5							67	68	68					17																	29203482		2203	4300	6503	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29203482C>G		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"ATPases / AAA-type"	25752	protein-coding gene	gene with protein product	"enhanced level of genomic instability 1 homolog (S. cerevisiae)"	609534	"chromosome 17 open reading frame 41"	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.3698C>G	17.37:g.29203482C>G	ENSP00000313171:p.Pro1233Arg						p.P1233R	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN			15	4076	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	1233					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.3698C>G	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967755	0.74131	.	.	ENSG00000176208	ENST00000321990	T	0.08370	3.1	5.21	4.24	0.50183	ATPase, AAA+ type, core (1);	0.166603	0.52532	N	0.000065	T	0.13030	0.0316	L	0.57536	1.79	0.31262	N	0.69284	P	0.51351	0.944	P	0.48114	0.567	T	0.05716	-1.0868	10	0.16420	T	0.52	.	13.1141	0.59289	0.0:0.9217:0.0:0.0783	.	1233	Q96QE3	ATAD5_HUMAN	R	1233	ENSP00000313171:P1233R	ENSP00000313171:P1233R	P	+	2	0	ATAD5	26227608	0.979000	0.34478	0.981000	0.43875	0.961000	0.63080	2.519000	0.45546	1.295000	0.44724	0.655000	0.94253	CCT		0.353	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		27	53	0	0	0	1	0	27	53					G	29203482	C	G	29203482	3	3	250	1	0	0	0	0	1	0	0	0	1076	681	24	4	3756	4	ATAD5	17	29203482	Missense_Mutation	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08	20821770	29203482	51991728	76	5437											
KRT25	147183	broad.mit.edu	37	chr17	38907519	38907519	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgtgaggtccaccccgggGgctgcgttcatctccacgtt	12	14	2	1			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr17:38907519G>A	ENST00000312150.4	-	4	789	c.729C>T	c.(727-729)gcC>gcT	p.A243A		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CCACCCCGGGGGCTGCGTTCA	0.572																																						ENST00000312150.4																			0				endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16						c.(727-729)gcC>gcT		keratin 25							88	79	82					17																	38907519		2203	4300	6503	SO:0001819	synonymous_variant	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38907519G>A	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"-", "Intermediate filaments type I, keratins (acidic)"	30839	protein-coding gene	gene with protein product			"keratin 25A"	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.729C>T	17.37:g.38907519G>A							p.A243A	NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN			4	789	-		Breast(137;0.00526)	243			Linker 12.|Rod.			Silent	SNP	ENST00000312150.4	37	c.729C>T	CCDS11373.1																																																																																				0.572	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		29	75	0	0	0	1	0	29	75					A	38907519	G	A	38907519	2	1	250	1	0	0	0	0	0	0	0	1	8462	1219	43	2		2	KRT25	17	38907519	Silent	SNP	G	TCGA-EL-A3ZO-01A-11D-A23M-08	9704037	38907519	42287691	77	5438											
KCNH4	23415	broad.mit.edu	37	chr17	40321507	40321507	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caggctacctcgttggcgtcGatgccgctgttgacggccca	13	14	0	1			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr17:40321507G>A	ENST00000264661.3	-	9	1910	c.1578C>T	c.(1576-1578)atC>atT	p.I526I	KCNH4_ENST00000607371.1_Silent_p.I526I	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	526					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CGTTGGCGTCGATGCCGCTGT	0.637																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(1576-1578)atC>atT		potassium voltage-gated channel, subfamily H (eag-related), member 4							68	66	67					17																	40321507		2203	4300	6503	SO:0001819	synonymous_variant	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40321507G>A	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1578C>T	17.37:g.40321507G>A						KCNH4_ENST00000607371.1_Silent_p.I526I	p.I526I	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	9	1910	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	526						Silent	SNP	ENST00000264661.3	37	c.1578C>T	CCDS11420.1																																																																																				0.637	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		27	50	0	0	0	1	0	27	50					A	40321507	G	A	40321507	2	1	250	1	0	0	0	0	0	0	0	1	8034	1048	37	1		1	KCNH4	17	40321507	Silent	SNP	G	TCGA-EL-A3ZO-01A-11D-A23M-08	1413988	40321507	40873703	78	5439											
C17orf71	55181	broad.mit.edu	37	chr17	57288927	57288927	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatgccaaaaagctttaccCatggcccacagtgcctacca	7	15	0	0			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr17:57288927C>T	ENST00000543872.2	+	2	1779	c.1515C>T	c.(1513-1515)ccC>ccT	p.P505P	SMG8_ENST00000580498.1_Intron|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Silent_p.P505P|SMG8_ENST00000578922.1_Silent_p.P505P			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	505					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						AAGCTTTACCCATGGCCCACA	0.403																																						ENST00000543872.2																			0				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						c.(1513-1515)ccC>ccT		SMG8 nonsense mediated mRNA decay factor							85	78	80					17																	57288927		2203	4300	6503	SO:0001819	synonymous_variant	55181				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	g.chr17:57288927C>T	AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"chromosome 17 open reading frame 71", "smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.1515C>T	17.37:g.57288927C>T						SMG8_ENST00000578922.1_Silent_p.P505P|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Silent_p.P505P|SMG8_ENST00000580498.1_Intron	p.P505P			Q8ND04	SMG8_HUMAN			2	1779	+			505					Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Silent	SNP	ENST00000543872.2	37	c.1515C>T	CCDS11615.1																																																																																				0.403	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149		11	64	0	0	0	1	0	11	64					T	57288927	C	T	57288927	2	4	250	1	0	0	0	0	0	0	0	1	1878	581	21	2		2	C17orf71	17	57288927	Silent	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08	16967420	57288927	23906283	79	5440											
SRP68	6730	broad.mit.edu	37	chr17	74057636	74057636	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gttcaaaacgtagcattcctGagaggtaagctgtgtaagcc	11	8	1	1			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr17:74057636G>A	ENST00000307877.2	-	5	742	c.581C>T	c.(580-582)tCa>tTa	p.S194L	SRP68_ENST00000539137.1_Missense_Mutation_p.S156L|SRP68_ENST00000355113.5_Missense_Mutation_p.S93L	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	194					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TAGCATTCCTGAGAGGTAAGC	0.438																																						ENST00000307877.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						c.(580-582)tCa>tTa		signal recognition particle 68kDa							107	94	98					17																	74057636		2203	4300	6503	SO:0001583	missense	6730				response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	g.chr17:74057636G>A	AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"signal recognition particle 68kD"			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.581C>T	17.37:g.74057636G>A	ENSP00000312066:p.Ser194Leu					SRP68_ENST00000539137.1_Missense_Mutation_p.S156L|SRP68_ENST00000355113.5_Missense_Mutation_p.S93L	p.S194L	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN			5	742	-			194					B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	ENST00000307877.2	37	c.581C>T	CCDS11738.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946385	0.53079	.	.	ENSG00000167881	ENST00000539137;ENST00000540937;ENST00000307877;ENST00000304220;ENST00000355113	T;T;T	0.22945	1.93;1.93;1.93	5.66	4.7	0.59300	Tetratricopeptide-like helical (1);	0.333284	0.34088	N	0.004272	T	0.16128	0.0388	N	0.16307	0.4	0.45777	D	0.99866	B;B	0.31548	0.328;0.161	B;B	0.30495	0.116;0.053	T	0.08576	-1.0715	10	0.25751	T	0.34	-0.9704	13.0546	0.58973	0.0742:0.0:0.9258:0.0	.	156;194	G3V1U4;Q9UHB9	.;SRP68_HUMAN	L	156;194;194;194;93	ENSP00000446136:S156L;ENSP00000312066:S194L;ENSP00000347233:S93L	ENSP00000307756:S194L	S	-	2	0	SRP68	71569231	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	5.006000	0.63978	1.535000	0.49220	0.655000	0.94253	TCA		0.438	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230		6	41	0	0	0	1	0	6	41					A	74057636	G	A	74057636	3	1	250	1	0	0	0	0	1	0	0	0	15155	1294	45	2	1350	2	SRP68	17	74057636	Missense_Mutation	SNP	G	TCGA-EL-A3ZO-01A-11D-A23M-08	16768709	74057636	7137574	80	5441											
NDUFA7	4701	broad.mit.edu	37	chr19	8381393	8381393	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctcacctctctgctggctTgcctgacaccagcgccttct	7	18	3	1			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr19:8381393T>G	ENST00000301457.2	-	3	275	c.238A>C	c.(238-240)Aag>Cag	p.K80Q	NDUFA7_ENST00000598884.1_Missense_Mutation_p.K80Q	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	80					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5						TCTGCTGGCTTGCCTGACACC	0.592																																						ENST00000301457.2																			0				NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5						c.(238-240)Aag>Cag		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	NADH(DB00157)						70	76	74					19																	8381393		2097	4230	6327	SO:0001583	missense	4701				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr19:8381393T>G	AF050637	CCDS42492.1	19p13.2	2013-05-14	2002-08-29		ENSG00000267855	ENSG00000267855		"Mitochondrial respiratory chain complex / Complex I"	7691	protein-coding gene	gene with protein product	"complex I B14.5a subunit"	602139	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7 (14.5kD, B14.5a)"			9763676	Standard	NM_005001		Approved	B14.5a	uc002mjm.2	O95182	OTTHUMG00000182459	ENST00000301457.2:c.238A>C	19.37:g.8381393T>G	ENSP00000301457:p.Lys80Gln					NDUFA7_ENST00000598884.1_Missense_Mutation_p.K80Q	p.K80Q	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN			3	275	-			80						Missense_Mutation	SNP	ENST00000301457.2	37	c.238A>C	CCDS42492.1	.	.	.	.	.	.	.	.	.	.	T	8.613	0.889608	0.17540	.	.	ENSG00000167774	ENST00000301457	T	0.50548	0.74	5.44	4.36	0.52297	.	0.503947	0.22589	N	0.058113	T	0.30634	0.0771	N	0.19112	0.55	0.29592	N	0.848339	B	0.22146	0.065	B	0.21917	0.037	T	0.14392	-1.0474	10	0.19590	T	0.45	-16.6775	11.1721	0.48577	0.0:0.0:0.2624:0.7376	.	80	O95182	NDUA7_HUMAN	Q	80	ENSP00000301457:K80Q	ENSP00000301457:K80Q	K	-	1	0	NDUFA7	8287393	0.873000	0.30073	0.975000	0.42487	0.194000	0.23727	0.903000	0.28475	2.194000	0.70268	0.459000	0.35465	AAG		0.592	NDUFA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461373.1	NM_005001		11	147	0	0	0	1	0	11	147					G	8381393	T	G	8381393	3	3	250	1	0	0	0	0	1	0	0	0	10270	1821	63	5	111	5	NDUFA7	19	8381393	Missense_Mutation	SNP	T	TCGA-EL-A3ZO-01A-11D-A23M-08		8381393	50747590	81	5442											
RAVER1	125950	broad.mit.edu	37	chr19	10439465	10439465	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gcatccgtccagtgcacgtaGagggtgcgtggtcccagcgg	16	12	0	1			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr19:10439465G>C	ENST00000293677.6	-	3	741	c.660C>G	c.(658-660)ctC>ctG	p.L220L		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	203						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			AGTGCACGTAGAGGGTGCGTG	0.637																																						ENST00000293677.6																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18						c.(658-660)ctC>ctG		ribonucleoprotein, PTB-binding 1							29	35	33					19																	10439465		2174	4254	6428	SO:0001819	synonymous_variant	125950					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr19:10439465G>C		CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"RNA binding motif (RRM) containing"	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.660C>G	19.37:g.10439465G>C							p.L220L	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		3	741	-			203					A6NMU4|Q8IY60|Q8TF24	Silent	SNP	ENST00000293677.6	37	c.660C>G	CCDS45960.1																																																																																				0.637	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451227.1	NM_133452		4	41	0	0	0	1	0	4	41					C	10439465	G	C	10439465	2	2	250	1	0	0	0	0	0	0	0	1	13094	929	33	4		4	RAVER1	19	10439465	Silent	SNP	G	TCGA-EL-A3ZO-01A-11D-A23M-08	2058072	10439465	48689518	82	5443											
DPF1	8193	broad.mit.edu	37	chr19	38713285	38713285	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcgcaggctgcgctcggcGcacaggcgcgcgttgtaact	15	13	0	0			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr19:38713285G>A	ENST00000420980.2	-	2	200	c.174C>T	c.(172-174)tgC>tgT	p.C58C	DPF1_ENST00000416611.1_Silent_p.C32C|DPF1_ENST00000412732.1_5'UTR|DPF1_ENST00000414789.1_5'UTR|DPF1_ENST00000456296.1_Silent_p.C32C|DPF1_ENST00000355526.4_Silent_p.C58C	NM_004647.2	NP_004638.2	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	58					apoptotic process (GO:0006915)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGCGCTCGGCGCACAGGCGCG	0.677																																						ENST00000416611.1																			0				large_intestine(1)|lung(4)|ovary(1)|skin(1)	7						c.(94-96)tgC>tgT		D4, zinc and double PHD fingers family 1							25	25	25					19																	38713285		2199	4298	6497	SO:0001819	synonymous_variant	0				induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding	g.chr19:38713285G>A	U43843	CCDS33008.2, CCDS46064.1, CCDS46065.1	19q13.12	2013-01-28			ENSG00000011332	ENSG00000011332		"Zinc fingers, PHD-type"	20225	protein-coding gene	gene with protein product		601670				8812431	Standard	XM_005259288		Approved	neuro-d4, NEUD4, BAF45b	uc002ohm.3	Q92782	OTTHUMG00000157164	ENST00000420980.2:c.174C>T	19.37:g.38713285G>A						DPF1_ENST00000456296.1_Silent_p.C32C|DPF1_ENST00000414789.1_5'UTR|DPF1_ENST00000412732.1_5'UTR|DPF1_ENST00000355526.4_Silent_p.C58C|DPF1_ENST00000420980.2_Silent_p.C58C	p.C32C			Q92782	DPF1_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		2	219	-	all_cancers(60;1.24e-06)		58					B3KSY8|Q08AJ0	Silent	SNP	ENST00000420980.2	37	c.96C>T	CCDS33008.2	.	.	.	.	.	.	.	.	.	.	g	8.147	0.786500	0.16189	.	.	ENSG00000011332	ENST00000355526	D	0.90444	-2.67	3.36	-0.239	0.13050	.	.	.	.	.	D	0.89118	0.6624	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.81949	-0.0699	5	.	.	.	-11.8413	8.6657	0.34118	0.4071:0.0:0.5929:0.0	.	.	.	.	C	51	ENSP00000347716:R51C	.	R	-	1	0	DPF1	43405125	0.777000	0.28628	0.995000	0.50966	0.701000	0.40568	0.022000	0.13511	-0.303000	0.08856	-1.568000	0.00874	CGC		0.677	DPF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347721.1			6	19	0	0	0	1	0	6	19					A	38713285	G	A	38713285	2	1	250	1	0	0	0	0	0	0	0	1	4716	1079	38	1		1	DPF1	19	38713285	Silent	SNP	G	TCGA-EL-A3ZO-01A-11D-A23M-08	28273820	38713285	20415698	83	5444											
CATSPERG	57828	broad.mit.edu	37	chr19	38853443	38853443	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcggtgaagcaggaggtcCtgattaatcgcaactcggtg	13	10	0	2			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr19:38853443C>A	ENST00000409235.3	+	20	2561	c.2446C>A	c.(2446-2448)Ctg>Atg	p.L816M	CATSPERG_ENST00000410018.1_Missense_Mutation_p.L776M|AC005625.1_ENST00000590304.1_RNA|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	816					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						GCAGGAGGTCCTGATTAATCG	0.567																																						ENST00000409235.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						c.(2446-2448)Ctg>Atg		catsper channel auxiliary subunit gamma							70	71	71					19																	38853443		2203	4300	6503	SO:0001583	missense	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38853443C>A	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"chromosome 19 open reading frame 15", "cation channel, sperm-associated, gamma"	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2446C>A	19.37:g.38853443C>A	ENSP00000386962:p.Leu816Met					CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.L776M	p.L816M	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN			20	2561	+			816					A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	c.2446C>A	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	C	12.28	1.890935	0.33348	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.49432	0.78;0.78	4.37	-3.89	0.04193	.	1.276660	0.05605	N	0.577134	T	0.54062	0.1835	M	0.69823	2.125	0.09310	N	0.999999	B;P	0.48589	0.022;0.912	B;P	0.54759	0.046;0.76	T	0.54255	-0.8321	10	0.52906	T	0.07	-1.8366	3.453	0.07505	0.4334:0.2962:0.0:0.2705	.	816;776	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	M	776;816;816	ENSP00000387057:L776M;ENSP00000386962:L816M	ENSP00000386962:L816M	L	+	1	2	CATSPERG	43545283	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.853000	0.04303	-0.370000	0.08016	-0.372000	0.07161	CTG		0.567	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		54	123	1	0	2.75338e-15	1	3.02872e-15	54	123					A	38853443	C	A	38853443	3	1	250	1	0	0	0	0	1	0	0	0	2692	680	24	4	2520	4	CATSPERG	19	38853443	Missense_Mutation	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08	140158	38853443	20275540	84	5445											
RYR1	6261	broad.mit.edu	37	chr19	38983246	38983246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaaggaagagaaacctgagGaggagcggtcagcagaggag	18	5	1	4			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr19:38983246G>A	ENST00000359596.3	+	38	6244	c.6244G>A	c.(6244-6246)Gag>Aag	p.E2082K	RYR1_ENST00000360985.3_Missense_Mutation_p.E2082K|RYR1_ENST00000355481.4_Missense_Mutation_p.E2082K			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2082	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GAAACCTGAGGAGGAGCGGTC	0.632																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(6244-6246)Gag>Aag		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						48	44	45					19																	38983246		2202	4300	6502	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38983246G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.6244G>A	19.37:g.38983246G>A	ENSP00000352608:p.Glu2082Lys					RYR1_ENST00000359596.3_Missense_Mutation_p.E2082K|RYR1_ENST00000360985.3_Missense_Mutation_p.E2082K	p.E2082K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		38	6375	+	all_cancers(60;7.91e-06)		2082			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.6244G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	g	10.78	1.447342	0.25987	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.71579	-0.58;-0.58;-0.58	5.05	5.05	0.67936	.	0.609449	0.13007	U	0.421191	T	0.60907	0.2305	L	0.46157	1.445	0.33088	D	0.537604	B;P	0.34699	0.003;0.464	B;B	0.31614	0.005;0.133	T	0.63712	-0.6575	10	0.16420	T	0.52	.	11.5863	0.50920	0.0878:0.0:0.9122:0.0	.	2082;2082	P21817-2;P21817	.;RYR1_HUMAN	K	2082	ENSP00000352608:E2082K;ENSP00000347667:E2082K;ENSP00000354254:E2082K	ENSP00000347667:E2082K	E	+	1	0	RYR1	43675086	1.000000	0.71417	0.998000	0.56505	0.074000	0.17049	3.331000	0.52075	2.349000	0.79799	0.539000	0.68188	GAG		0.632	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			9	49	0	0	0	1	0	9	49					A	38983246	G	A	38983246	3	1	250	1	0	0	0	0	1	0	0	0	13768	1175	41	2	6394	2	RYR1	19	38983246	Missense_Mutation	SNP	G	TCGA-EL-A3ZO-01A-11D-A23M-08	129803	38983246	20145737	85	5446											
SPTBN4	57731	broad.mit.edu	37	chr19	41081411	41081411	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gacactacccactacttcatCcacagatgagggcaacccta	6	15	1	2			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr19:41081411C>G	ENST00000352632.3	+	36	7717	c.7631C>G	c.(7630-7632)tCc>tGc	p.S2544C	SHKBP1_ENST00000600733.1_5'Flank|SHKBP1_ENST00000291842.5_5'Flank|SPTBN4_ENST00000392025.1_Missense_Mutation_p.S1287C|SPTBN4_ENST00000598249.1_Missense_Mutation_p.S2544C|SPTBN4_ENST00000593816.1_3'UTR			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2544					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTACTTCATCCACAGATGAG	0.637																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(7630-7632)tCc>tGc		spectrin, beta, non-erythrocytic 4							50	38	42					19																	41081411		2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41081411C>G	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.7631C>G	19.37:g.41081411C>G	ENSP00000263373:p.Ser2544Cys					SPTBN4_ENST00000598249.1_Missense_Mutation_p.S2544C|SPTBN4_ENST00000593816.1_3'UTR|SPTBN4_ENST00000392025.1_Missense_Mutation_p.S1287C	p.S2544C			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		36	7717	+			2544					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.7631C>G	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112204	0.77210	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000392025	T;T	0.79554	-1.28;0.02	4.65	4.65	0.58169	.	0.000000	0.64402	U	0.000016	T	0.79885	0.4523	N	0.08118	0	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70716	0.97;0.945	D	0.85151	0.0986	10	0.87932	D	0	.	16.6678	0.85257	0.0:1.0:0.0:0.0	.	1287;2544	C9JY79;Q9H254	.;SPTN4_HUMAN	C	2544;2544;1287	ENSP00000263373:S2544C;ENSP00000375879:S1287C	ENSP00000263373:S2544C	S	+	2	0	SPTBN4	45773251	1.000000	0.71417	0.997000	0.53966	0.933000	0.57130	6.350000	0.73017	2.296000	0.77279	0.462000	0.41574	TCC		0.637	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			6	39	0	0	0	1	0	6	39					G	41081411	C	G	41081411	3	3	250	1	0	0	0	0	1	0	0	0	15120	855	30	4	7863	4	SPTBN4	19	41081411	Missense_Mutation	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08	2098165	41081411	18047572	86	5447											
CEACAM8	1088	broad.mit.edu	37	chr19	43098036	43098036	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcagtggtgggcgggttccaGaaggtgaaaagtgaggctag	19	5	0	3	rs146608676		TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr19:43098036G>A	ENST00000244336.5	-	2	182	c.81C>T	c.(79-81)ttC>ttT	p.F27F	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|CEACAM8_ENST00000599005.1_Intron	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	27					immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				GCGGGTTCCAGAAGGTGAAAA	0.498													.|||	1	0.000199681	8e-04	0	5008	,	,		20499	0		0	False		,,,				2504	0					ENST00000244336.5																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16						c.(79-81)ttC>ttT		carcinoembryonic antigen-related cell adhesion molecule 8							102	96	98					19																	43098036		2203	4300	6503	SO:0001819	synonymous_variant	1088				immune response	anchored to membrane|extracellular space|integral to plasma membrane		g.chr19:43098036G>A	D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.81C>T	19.37:g.43098036G>A						CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	p.F27F	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN			2	182	-		Prostate(69;0.00899)	27					O60399|Q16574	Silent	SNP	ENST00000244336.5	37	c.81C>T	CCDS12610.1																																																																																				0.498	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321430.1			24	169	0	0	0	1	0	24	169					A	43098036	G	A	43098036	2	1	250	1	0	0	0	0	0	0	0	1	3198	933	33	2		2	CEACAM8	19	43098036	Silent	SNP	G	TCGA-EL-A3ZO-01A-11D-A23M-08	2016625	43098036	16030947	87	5448											
PSG9	5678	broad.mit.edu	37	chr19	43772209	43772209	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggcaaattgtggacaagtaGaagaacatccttcccctcag	10	10	1	2	rs144736946		TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr19:43772209G>A	ENST00000270077.3	-	2	253	c.157C>T	c.(157-159)Cta>Tta	p.L53L	PSG9_ENST00000596730.1_Silent_p.L53L|PSG9_ENST00000418820.2_Silent_p.L53L|PSG9_ENST00000291752.5_Silent_p.L53L|PSG9_ENST00000443718.3_Silent_p.L53L|PSG9_ENST00000244293.7_Silent_p.L53L|PSG9_ENST00000593948.1_Silent_p.L53L	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	53	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TGGACAAGTAGAAGAACATCC	0.473																																						ENST00000244293.7																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(157-159)Cta>Tta		pregnancy specific beta-1-glycoprotein 9		G		1,4405	2.1+/-5.4	0,1,2202	161	158	159		157	-0.8	0.0	19	dbSNP_134	159	0,8600		0,0,4300	no	coding-synonymous	PSG9	NM_002784.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		53/427	43772209	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5678				female pregnancy	extracellular region		g.chr19:43772209G>A	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.157C>T	19.37:g.43772209G>A						PSG9_ENST00000418820.2_Silent_p.L53L|PSG9_ENST00000443718.3_Silent_p.L53L|PSG9_ENST00000270077.3_Silent_p.L53L|PSG9_ENST00000291752.5_Silent_p.L53L|PSG9_ENST00000596730.1_Silent_p.L53L|PSG9_ENST00000593948.1_Silent_p.L53L	p.L53L			Q00887	PSG9_HUMAN			2	223	-		Prostate(69;0.00682)	53			Ig-like V-type.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Silent	SNP	ENST00000270077.3	37	c.157C>T	CCDS12618.1																																																																																				0.473	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		72	185	0	0	0	1	0	72	185					A	43772209	G	A	43772209	2	1	250	1	0	0	0	0	0	0	0	1	12662	933	33	2		2	PSG9	19	43772209	Silent	SNP	G	TCGA-EL-A3ZO-01A-11D-A23M-08	674173	43772209	15356774	88	5449											
SLC17A7	57030	broad.mit.edu	37	chr19	49935868	49935868	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccgccgatgggcacgatgAtggtcatgaccaggtggggc	18	10	1	2			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr19:49935868A>G	ENST00000221485.3	-	9	1229	c.1058T>C	c.(1057-1059)aTc>aCc	p.I353T	SLC17A7_ENST00000543531.1_Missense_Mutation_p.I341T|SLC17A7_ENST00000600601.1_Missense_Mutation_p.I286T	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	353					glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GGGCACGATGATGGTCATGAC	0.662																																						ENST00000221485.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26						c.(1057-1059)aTc>aCc		solute carrier family 17 (vesicular glutamate transporter), member 7							31	31	31					19																	49935868		2203	4299	6502	SO:0001583	missense	57030				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity	g.chr19:49935868A>G	AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"Solute carriers"	16704	protein-coding gene	gene with protein product	"vesicular glutamate transporter 1"	605208	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.1058T>C	19.37:g.49935868A>G	ENSP00000221485:p.Ile353Thr					SLC17A7_ENST00000600601.1_Missense_Mutation_p.I286T|SLC17A7_ENST00000543531.1_Missense_Mutation_p.I341T	p.I353T	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)	9	1229	-		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	353					B4DFR9|B4DG46|Q6PCD0	Missense_Mutation	SNP	ENST00000221485.3	37	c.1058T>C	CCDS12764.1	.	.	.	.	.	.	.	.	.	.	A	16.31	3.087483	0.55968	.	.	ENSG00000104888	ENST00000221485;ENST00000543531	T;T	0.61392	0.11;0.11	3.87	3.87	0.44632	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.52532	D	0.000065	T	0.64349	0.2590	M	0.81112	2.525	0.80722	D	1	B;B	0.32893	0.389;0.389	B;B	0.42163	0.292;0.378	T	0.66693	-0.5859	10	0.44086	T	0.13	.	10.953	0.47341	1.0:0.0:0.0:0.0	.	353;195	Q9P2U7;A8K0Q7	VGLU1_HUMAN;.	T	353;341	ENSP00000221485:I353T;ENSP00000441767:I341T	ENSP00000221485:I353T	I	-	2	0	SLC17A7	54627680	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	8.939000	0.92951	1.774000	0.52232	0.402000	0.26972	ATC		0.662	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2			15	40	0	0	0	1	0	15	40					G	49935868	A	G	49935868	3	3	250	1	0	0	0	0	1	0	0	0	14422	333	12	3	640	3	SLC17A7	19	49935868	Missense_Mutation	SNP	A	TCGA-EL-A3ZO-01A-11D-A23M-08	6163659	49935868	9193115	89	5450											
SRC	6714	broad.mit.edu	37	chr20	36012660	36012660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgggggcgctttccccgcctCgcagacccccagcaagccag	12	19	0	1			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr20:36012660C>T	ENST00000373578.2	+	4	453	c.104C>T	c.(103-105)tCg>tTg	p.S35L	SRC_ENST00000360723.4_Missense_Mutation_p.S35L|SRC_ENST00000373558.2_Missense_Mutation_p.S35L|SRC_ENST00000445403.1_Missense_Mutation_p.S35L|SRC_ENST00000358208.4_Missense_Mutation_p.S35L|SRC_ENST00000373567.2_Missense_Mutation_p.S35L	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	SRC proto-oncogene, non-receptor tyrosine kinase	35					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cellular response to progesterone stimulus (GO:0071393)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|membrane organization (GO:0061024)|negative regulation of anoikis (GO:2000811)|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)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of protein homooligomerization (GO:0032463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oogenesis (GO:0048477)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of integrin activation (GO:0033625)|positive regulation of podosome assembly (GO:0071803)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone receptor signaling pathway (GO:0050847)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of bone resorption (GO:0045124)|regulation of caveolin-mediated endocytosis (GO:2001286)|regulation of cell-cell adhesion (GO:0022407)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of epithelial cell migration (GO:0010632)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of protein binding (GO:0043393)|regulation of vascular permeability (GO:0043114)|response to interleukin-1 (GO:0070555)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|T cell costimulation (GO:0031295)|transforming growth factor beta receptor signaling pathway (GO:0007179)|uterus development (GO:0060065)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|growth factor receptor binding (GO:0070851)|heme binding (GO:0020037)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Bosutinib(DB06616)|Dasatinib(DB01254)|Ponatinib(DB08901)	TTCCCCGCCTCGCAGACCCCC	0.746																																						ENST00000373578.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(103-105)tCg>tTg		v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog	Dasatinib(DB01254)						6	9	8					20																	36012660		1848	3899	5747	SO:0001583	missense	6714				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity	g.chr20:36012660C>T	AF077754	CCDS13294.1	20q12-q13	2014-06-25	2014-06-25		ENSG00000197122	ENSG00000197122		"SH2 domain containing"	11283	protein-coding gene	gene with protein product		190090	"v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog"	SRC1		2582238	Standard	NM_005417		Approved	ASV, c-src	uc002xgy.3	P12931	OTTHUMG00000032417	ENST00000373578.2:c.104C>T	20.37:g.36012660C>T	ENSP00000362680:p.Ser35Leu					SRC_ENST00000373558.2_Missense_Mutation_p.S35L|SRC_ENST00000445403.1_Missense_Mutation_p.S35L|SRC_ENST00000360723.4_Missense_Mutation_p.S35L|SRC_ENST00000358208.4_Missense_Mutation_p.S35L|SRC_ENST00000373567.2_Missense_Mutation_p.S35L	p.S35L	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN			4	453	+		Myeloproliferative disorder(115;0.00878)	35					E1P5V4|Q76P87|Q86VB9|Q9H5A8	Missense_Mutation	SNP	ENST00000373578.2	37	c.104C>T	CCDS13294.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.634744	0.47049	.	.	ENSG00000197122	ENST00000445403;ENST00000373578;ENST00000360723;ENST00000358208;ENST00000373567;ENST00000373558	T;T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84;-0.84	4.14	4.14	0.48551	.	0.282027	0.35151	N	0.003405	T	0.61476	0.2350	L	0.48642	1.525	0.80722	D	1	P	0.41131	0.739	B	0.27887	0.084	T	0.64867	-0.6306	9	.	.	.	.	13.9441	0.64073	0.0:1.0:0.0:0.0	.	35	P12931	SRC_HUMAN	L	35	ENSP00000408503:S35L;ENSP00000362680:S35L;ENSP00000353950:S35L;ENSP00000350941:S35L;ENSP00000362668:S35L;ENSP00000362659:S35L	.	S	+	2	0	SRC	35446074	0.885000	0.30320	0.137000	0.22149	0.100000	0.18952	3.510000	0.53393	2.139000	0.66308	0.561000	0.74099	TCG		0.746	SRC-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268142.1	NM_005417		4	17	0	0	0	1	0	4	17					T	36012660	C	T	36012660	3	4	250	1	0	0	0	0	1	0	0	0	15133	893	31	1	106	1	SRC	20	36012660	Missense_Mutation	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08		36012660	27012860	90	5451											
HSPA13	6782	broad.mit.edu	37	chr21	15746494	15746494	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tttccacagcttgtctcaatCtgtggatttcctctttccta	5	12	3	0			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr21:15746494C>G	ENST00000285667.3	-	5	927	c.860G>C	c.(859-861)aGa>aCa	p.R287T	HSPA13_ENST00000544452.1_Missense_Mutation_p.R79T	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	287						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						TTGTCTCAATCTGTGGATTTC	0.418																																						ENST00000285667.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						c.(859-861)aGa>aCa		heat shock protein 70kDa family, member 13							96	86	89					21																	15746494		2203	4300	6503	SO:0001583	missense	6782					endoplasmic reticulum|microsome	ATP binding	g.chr21:15746494C>G		CCDS13567.1	21q11.1	2011-09-02	2008-06-17	2008-06-17	ENSG00000155304	ENSG00000155304		"Heat shock proteins / HSP70"	11375	protein-coding gene	gene with protein product		601100	"stress 70 protein chaperone, microsome-associated, 60kD", "stress 70 protein chaperone, microsome-associated, 60kDa"	STCH		8825657	Standard	NM_006948		Approved		uc002yjt.3	P48723	OTTHUMG00000074261	ENST00000285667.3:c.860G>C	21.37:g.15746494C>G	ENSP00000285667:p.Arg287Thr					HSPA13_ENST00000544452.1_Missense_Mutation_p.R79T	p.R287T	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN			5	927	-			287					B2R616|Q8NE40	Missense_Mutation	SNP	ENST00000285667.3	37	c.860G>C	CCDS13567.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100039	0.56183	.	.	ENSG00000155304	ENST00000285667;ENST00000544452	T;T	0.01474	4.85;4.85	5.66	4.78	0.61160	.	0.373279	0.32147	N	0.006518	T	0.05547	0.0146	M	0.85041	2.73	0.37971	D	0.933276	B	0.27910	0.193	B	0.31390	0.129	T	0.03514	-1.1029	10	0.87932	D	0	-18.0972	15.0321	0.71717	0.0:0.9313:0.0:0.0687	.	287	P48723	HSP13_HUMAN	T	287;79	ENSP00000285667:R287T;ENSP00000441986:R79T	ENSP00000285667:R287T	R	-	2	0	HSPA13	14668365	0.997000	0.39634	1.000000	0.80357	0.736000	0.42039	1.460000	0.35244	1.525000	0.49052	0.585000	0.79938	AGA		0.418	HSPA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157815.1			6	52	0	0	0	1	0	6	52					G	15746494	C	G	15746494	3	3	250	1	0	0	0	0	1	0	0	0	7406	913	32	4	559	4	HSPA13	21	15746494	Missense_Mutation	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08		15746494	32383401	91	5452											
RNF160	26046	broad.mit.edu	37	chr21	30339475	30339475	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgttgcaatcctgggtctttGagaactgcatcaataaaagg	10	7	2	1			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr21:30339475G>C	ENST00000361371.5	-	10	1417	c.1338C>G	c.(1336-1338)ctC>ctG	p.L446L	LTN1_ENST00000389195.2_Silent_p.L492L|LTN1_ENST00000389194.2_Silent_p.L492L			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	446					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						CTGGGTCTTTGAGAACTGCAT	0.388																																						ENST00000361371.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						c.(1336-1338)ctC>ctG		listerin E3 ubiquitin protein ligase 1							62	58	59					21																	30339475		2203	4300	6503	SO:0001819	synonymous_variant	26046						ligase activity|zinc ion binding	g.chr21:30339475G>C	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"RING-type (C3HC4) zinc fingers"	13082	protein-coding gene	gene with protein product	"listerin"	613083	"chromosome 21 open reading frame 98", "zinc finger protein 294", "ring finger protein 160"	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.1338C>G	21.37:g.30339475G>C						LTN1_ENST00000389194.2_Silent_p.L492L|LTN1_ENST00000389195.2_Silent_p.L492L	p.L446L	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN			10	1488	-			446					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Silent	SNP	ENST00000361371.5	37	c.1338C>G																																																																																					0.388	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		8	62	0	0	0	1	0	8	62					C	30339475	G	C	30339475	2	2	250	1	0	0	0	0	0	0	0	1	13455	1277	45	4		4	RNF160	21	30339475	Silent	SNP	G	TCGA-EL-A3ZO-01A-11D-A23M-08	14592981	30339475	17790420	92	5453											
DMD	1756	broad.mit.edu	37	chrX	31792217	31792217	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atctgccagagcaggtacctCcaacatcaaggaagatggca	10	11	2	2	rs128626253		TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chrX:31792217C>A	ENST00000357033.4	-	51	7608	c.7402G>T	c.(7402-7404)Gag>Tag	p.E2468*	DMD_ENST00000378707.3_Nonsense_Mutation_p.E8*|DMD_ENST00000343523.2_Nonsense_Mutation_p.E8*|DMD_ENST00000541735.1_Nonsense_Mutation_p.E8*|DMD_ENST00000359836.1_Nonsense_Mutation_p.E8*|DMD_ENST00000474231.1_Nonsense_Mutation_p.E8*|DMD_ENST00000378677.2_Nonsense_Mutation_p.E2464*	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2468					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GCAGGTACCTCCAACATCAAG	0.458																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77	GRCh37	CM084899|CX921033	DMD	M|X	rs128626253	c.(7402-7404)Gag>Tag		dystrophin							100	84	89					X																	31792217		2202	4300	6502	SO:0001587	stop_gained	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31792217C>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.7402G>T	X.37:g.31792217C>A	ENSP00000354923:p.Glu2468*					DMD_ENST00000359836.1_Nonsense_Mutation_p.E8*|DMD_ENST00000378707.3_Nonsense_Mutation_p.E8*|DMD_ENST00000474231.1_Nonsense_Mutation_p.E8*|DMD_ENST00000541735.1_Nonsense_Mutation_p.E8*|DMD_ENST00000343523.2_Nonsense_Mutation_p.E8*|DMD_ENST00000378677.2_Nonsense_Mutation_p.E2464*	p.E2468*	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			51	7608	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2468					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Nonsense_Mutation	SNP	ENST00000357033.4	37	c.7402G>T	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	50|50	16.835336|16.835336	0.99873|0.99873	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231|ENST00000465285	.|.	.|.	.|.	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	0.000000|.	0.37348|.	U|.	0.002135|.	.|T	.|0.73651	.|0.3614	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74054	.|-0.3788	.|3	0.51188|.	T|.	0.08|.	.|.	17.6536|17.6536	0.88171|0.88171	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	2460;1127;1124;164;2464;2468;8;8;2468;2345;8;8;8|196	.|.	ENSP00000340057:E8X|.	E|G	-|-	1|2	0|0	DMD|DMD	31702138|31702138	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.223000|6.223000	0.72257|0.72257	2.096000|2.096000	0.63516|0.63516	0.594000|0.594000	0.82650|0.82650	GAG|GGA		0.458	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		9	87	1	0	1.12685e-05	1	1.18485e-05	9	87					A	31792217	C	A	31792217	4	1	250	1	0	0	0	0	0	1	0	0	4580	864	30	4	3919	4	DMD	23	31792217	Nonsense_Mutation	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08		31792217	123478343	93	5454											
RNF113A	7737	broad.mit.edu	37	chrX	119005506	119005506	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgtccagcagcccctttcCgcccaggctttttgaaaagg	10	14	0	1			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chrX:119005506C>T	ENST00000371442.2	-	1	285	c.71G>A	c.(70-72)cGg>cAg	p.R24Q	NDUFA1_ENST00000371437.4_5'UTR	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	24							zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						AGCCCCTTTCCGCCCAGGCTT	0.602																																						ENST00000371442.2																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						c.(70-72)cGg>cAg		ring finger protein 113A							56	57	57					X																	119005506		2203	4299	6502	SO:0001583	missense	7737						nucleic acid binding|zinc ion binding	g.chrX:119005506C>T	X98253	CCDS14589.1	Xq24	2013-10-22	2005-03-22	2005-03-22	ENSG00000125352	ENSG00000125352		"RING-type (C3HC4) zinc fingers"	12974	protein-coding gene	gene with protein product			"zinc finger protein 183 (RING finger, C3HC4 type)"	ZNF183		9224902	Standard	NM_006978		Approved	RNF113, Cwc24	uc004esb.3	O15541	OTTHUMG00000022283	ENST00000371442.2:c.71G>A	X.37:g.119005506C>T	ENSP00000360497:p.Arg24Gln					NDUFA1_ENST00000371437.4_5'UTR	p.R24Q	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN			1	285	-			24					B2RBR7	Missense_Mutation	SNP	ENST00000371442.2	37	c.71G>A	CCDS14589.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939642	0.52972	.	.	ENSG00000125352	ENST00000371442	T	0.31247	1.5	5.29	5.29	0.74685	.	0.140134	0.46758	D	0.000262	T	0.24736	0.0600	M	0.66939	2.045	0.80722	D	1	P	0.48640	0.913	B	0.30401	0.115	T	0.15037	-1.0451	10	0.14656	T	0.56	.	13.3956	0.60851	0.0:1.0:0.0:0.0	.	24	O15541	R113A_HUMAN	Q	24	ENSP00000360497:R24Q	ENSP00000360497:R24Q	R	-	2	0	RNF113A	118889534	0.188000	0.23250	0.111000	0.21465	0.968000	0.65278	1.818000	0.39012	2.227000	0.72691	0.600000	0.82982	CGG		0.602	RNF113A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058071.1	NM_006978		17	224	0	0	0	1	0	17	224					T	119005506	C	T	119005506	3	4	250	1	0	0	0	0	1	0	0	0	13427	652	23	1	964	1	RNF113A	23	119005506	Missense_Mutation	SNP	C	TCGA-EL-A3ZO-01A-11D-A23M-08	87213289	119005506	36265054	94	5455											
USP26	83844	broad.mit.edu	37	chrX	132161783	132161783	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgtaagcaaaggcatcctctGaaggacacctgtcccacttc	8	13	1	1			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chrX:132161783G>A	ENST00000511190.1	-	6	935	c.466C>T	c.(466-468)Cag>Tag	p.Q156*	USP26_ENST00000370832.1_Nonsense_Mutation_p.Q156*|USP26_ENST00000406273.1_Nonsense_Mutation_p.Q156*	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	156					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GGCATCCTCTGAAGGACACCT	0.388																																					NSCLC(104;342 1621 36940 47097 52632)	ENST00000511190.1																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60						c.(466-468)Cag>Tag		ubiquitin specific peptidase 26							93	70	78					X																	132161783		2203	4299	6502	SO:0001587	stop_gained	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132161783G>A	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"Ubiquitin-specific peptidases"	13485	protein-coding gene	gene with protein product		300309	"ubiquitin specific protease 26"			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.466C>T	X.37:g.132161783G>A	ENSP00000423390:p.Gln156*					USP26_ENST00000406273.1_Nonsense_Mutation_p.Q156*|USP26_ENST00000370832.1_Nonsense_Mutation_p.Q156*	p.Q156*	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN			6	935	-	Acute lymphoblastic leukemia(192;0.000127)		156					B9WRT6|Q5H9H4	Nonsense_Mutation	SNP	ENST00000511190.1	37	c.466C>T	CCDS14635.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.568760	0.65765	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	.	.	.	4.13	0.289	0.15723	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	1.3964	2.8337	0.05507	0.3528:0.0:0.4304:0.2167	.	.	.	.	X	156	.	ENSP00000359869:Q156X	Q	-	1	0	USP26	131989449	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.601000	0.02081	-0.085000	0.12573	-0.322000	0.08575	CAG		0.388	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		19	49	0	0	0	1	0	19	49					A	132161783	G	A	132161783	4	1	250	1	0	0	0	0	0	1	0	0	17054	1299	45	2	2278	2	USP26	23	132161783	Nonsense_Mutation	SNP	G	TCGA-EL-A3ZO-01A-11D-A23M-08	13156277	132161783	23108777	95	5456											
TP53BP2	7159	broad.mit.edu	37	chr1	223986347	223986347	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttggttttgtaggaacaggAggtggtactttagccacatt	12	5	0	0			TCGA-EL-A3ZP-01A-11D-A23M-08	TCGA-EL-A3ZP-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5abd938-1b6a-428e-b8bf-27735c50eda0	09b2073c-4af3-4cd5-a3bb-bdeac945d63b	g.chr1:223986347A>C	ENST00000343537.7	-	12	1809	c.1518T>G	c.(1516-1518)ccT>ccG	p.P506P	TP53BP2_ENST00000391878.2_Silent_p.P377P|TP53BP2_ENST00000391879.2_Intron|TP53BP2_ENST00000498843.1_5'UTR	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	500					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TAGGAACAGGAGGTGGTACTT	0.368																																						ENST00000391878.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29						c.(1129-1131)ccT>ccG		tumor protein p53 binding protein, 2							62	64	64					1																	223986347		2203	4300	6503	SO:0001819	synonymous_variant	7159				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:223986347A>C	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	12000	protein-coding gene	gene with protein product		602143	"tumor protein p53-binding protein, 2"			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.1518T>G	1.37:g.223986347A>C						TP53BP2_ENST00000343537.7_Silent_p.P506P|TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_Intron	p.P377P	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN		GBM - Glioblastoma multiforme(131;0.0958)	13	1899	-			500					B4DG66|Q12892|Q86X75|Q96KQ3	Silent	SNP	ENST00000343537.7	37	c.1131T>G	CCDS44319.1																																																																																				0.368	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426		31	53	0	0	0	1	0	31	53					C	223986347	A	C	223986347	2	2	251	1	0	0	0	0	0	0	0	1	16381	291	11	5		5	TP53BP2	1	223986347	Silent	SNP	A	TCGA-EL-A3ZP-01A-11D-A23M-08		223986347	25264274	1	5457											
XDH	7498	broad.mit.edu	37	chr2	31572963	31572963	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcactcggcaatgagcatccCctggggccccccaaagcccc	10	19	0	1			TCGA-EL-A3ZP-01A-11D-A23M-08	TCGA-EL-A3ZP-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5abd938-1b6a-428e-b8bf-27735c50eda0	09b2073c-4af3-4cd5-a3bb-bdeac945d63b	g.chr2:31572963C>G	ENST00000379416.3	-	25	2806	c.2758G>C	c.(2758-2760)Ggg>Cgg	p.G920R		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	920					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	ATGAGCATCCCCTGGGGCCCC	0.577																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74						c.(2758-2760)Ggg>Cgg		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						95	108	104					2																	31572963		2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31572963C>G	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"xanthene dehydrogenase"			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.2758G>C	2.37:g.31572963C>G	ENSP00000368727:p.Gly920Arg						p.G920R	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN			25	2806	-	Acute lymphoblastic leukemia(172;0.155)		920					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.2758G>C	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.612710	0.66672	.	.	ENSG00000158125	ENST00000379416	T	0.43294	0.95	5.85	5.85	0.93711	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.242112	0.48767	D	0.000174	T	0.77280	0.4107	H	0.96833	3.89	0.80722	D	1	P	0.50710	0.938	D	0.65140	0.932	D	0.84208	0.0454	10	0.87932	D	0	.	19.7631	0.96332	0.0:1.0:0.0:0.0	.	920	P47989	XDH_HUMAN	R	920	ENSP00000368727:G920R	ENSP00000368727:G920R	G	-	1	0	XDH	31426467	1.000000	0.71417	0.721000	0.30653	0.001000	0.01503	7.778000	0.85637	2.764000	0.94973	0.650000	0.86243	GGG		0.577	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		8	197	0	0	0	1	0	8	197					G	31572963	C	G	31572963	3	3	251	1	0	0	0	0	1	0	0	0	17423	623	22	4	1291	4	XDH	2	31572963	Missense_Mutation	SNP	C	TCGA-EL-A3ZP-01A-11D-A23M-08		31572963	211626410	2	5458											
RNF168	165918	broad.mit.edu	37	chr3	196214338	196214338	+	Frame_Shift_Del	DEL	T	T	-													ttcttccatcgctcttcgccTtttttctgcctgtctttttt							TCGA-EL-A3ZP-01A-11D-A23M-08	TCGA-EL-A3ZP-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5abd938-1b6a-428e-b8bf-27735c50eda0	09b2073c-4af3-4cd5-a3bb-bdeac945d63b	g.chr3:196214338delT	ENST00000318037.3	-	3	1084	c.490delA	c.(490-492)aggfs	p.R166fs		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	166	Glu-rich.				cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GCTCTTCGCCTTTTTTCTGCC	0.448																																						ENST00000318037.3																			0				NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20						c.(490-492)ggfs		ring finger protein 168, E3 ubiquitin protein ligase							512	470	484					3																	196214338		2203	4300	6503	SO:0001589	frameshift_variant	165918				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:196214338delT	AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"RING-type (C3HC4) zinc fingers"	26661	protein-coding gene	gene with protein product		612688	"ring finger protein 168"			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.490delA	3.37:g.196214338delT	ENSP00000320898:p.Arg166fs						p.R166fs	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)	3	1084	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		166			Glu-rich.		Q8NA67|Q96NS4	Frame_Shift_Del	DEL	ENST00000318037.3	37	c.490delA	CCDS3317.1																																																																																				0.448	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617		7	379						7	379	---	---	---	---	-	196214338	T	-	196214338	7	5	251	1	0	1	0	1	0	0	0	0	13459	1608	56	0	1241	0	RNF168	3	196214338	Frame_Shift_Del	DEL	T	TCGA-EL-A3ZP-01A-11D-A23M-08		196214338	1808092	3	5459											
PPARGC1A	10891	broad.mit.edu	37	chr4	23833371	23833371	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcctcattctcttcatctaTcttctgcagaaagagaaaaa	5	10	6	2			TCGA-EL-A3ZP-01A-11D-A23M-08	TCGA-EL-A3ZP-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5abd938-1b6a-428e-b8bf-27735c50eda0	09b2073c-4af3-4cd5-a3bb-bdeac945d63b	g.chr4:23833371T>C	ENST00000264867.2	-	3	357	c.238A>G	c.(238-240)Ata>Gta	p.I80V	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	80					androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|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 stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TCTTCATCTATCTTCTGCAGA	0.458																																					Esophageal Squamous(29;694 744 13796 34866 44181)	ENST00000264867.2																			0				central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51						c.(238-240)Ata>Gta		peroxisome proliferator-activated receptor gamma, coactivator 1 alpha							195	170	179					4																	23833371		2203	4300	6503	SO:0001583	missense	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23833371T>C	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"RNA binding motif (RRM) containing"	9237	protein-coding gene	gene with protein product		604517	"peroxisome proliferative activated receptor, gamma, coactivator 1", "peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.238A>G	4.37:g.23833371T>C	ENSP00000264867:p.Ile80Val					PPARGC1A_ENST00000509702.1_5'UTR	p.I80V	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN			3	357	-		Breast(46;0.0503)	80					B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	37	c.238A>G	CCDS3429.1	.	.	.	.	.	.	.	.	.	.	T	15.02	2.710604	0.48517	.	.	ENSG00000109819	ENST00000264867	T	0.36520	1.25	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.40145	0.1105	M	0.80982	2.52	0.80722	D	1	P	0.35507	0.506	B	0.27796	0.083	T	0.45614	-0.9249	10	0.72032	D	0.01	-6.5452	13.5349	0.61643	0.0:0.0:0.1294:0.8706	.	80	Q9UBK2	PRGC1_HUMAN	V	80	ENSP00000264867:I80V	ENSP00000264867:I80V	I	-	1	0	PPARGC1A	23442469	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.987000	0.70571	2.308000	0.77769	0.533000	0.62120	ATA		0.458	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		79	118	0	0	0	1	0	79	118					C	23833371	T	C	23833371	3	2	251	1	0	0	0	0	1	0	0	0	12300	1435	50	3	2202	3	PPARGC1A	4	23833371	Missense_Mutation	SNP	T	TCGA-EL-A3ZP-01A-11D-A23M-08		23833371	167320905	4	5460											
YTHDC2	64848	broad.mit.edu	37	chr5	112862416	112862417	+	Frame_Shift_Ins	INS	-	-	A													agaaacaggaagaaattgttINSaaaataattaaggaaaataa							TCGA-EL-A3ZP-01A-11D-A23M-08	TCGA-EL-A3ZP-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5abd938-1b6a-428e-b8bf-27735c50eda0	09b2073c-4af3-4cd5-a3bb-bdeac945d63b	g.chr5:112862416_112862417insA	ENST00000161863.4	+	4	822_823	c.609_610insA	c.(610-612)aaafs	p.K204fs	YTHDC2_ENST00000515883.1_Frame_Shift_Ins_p.K204fs	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	204	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AAGAAATTGTTAAAATAATTAA	0.327																																						ENST00000161863.4																			0				NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(607-612)gtaaatfs		YTH domain containing 2																																				SO:0001589	frameshift_variant	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112862416_112862417insA	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.613dupA	5.37:g.112862420_112862420dupA	ENSP00000161863:p.Lys204fs					YTHDC2_ENST00000515883.1_Frame_Shift_Ins_p.N204fs	p.N204fs	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	4	822_823	+		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)	204			Helicase ATP-binding.		B2RP66	Frame_Shift_Ins	INS	ENST00000161863.4	37	c.609_610insA	CCDS4113.1																																																																																				0.327	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		7	90						7	90	---	---	---	---	A	112862417	-	A	112862416	7	5	251	1	0	1	1	0	0	0	0	0	17494	1741	61	0	623	0	YTHDC2	5	112862416	Frame_Shift_Ins	INS	-	TCGA-EL-A3ZP-01A-11D-A23M-08		112862416	68052844	5	5461											
SH3PXD2B	285590	broad.mit.edu	37	chr5	171773196	171773196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgggatggttgtctggaattCggcgatggtgtaatactctt	14	5	2	0			TCGA-EL-A3ZP-01A-11D-A23M-08	TCGA-EL-A3ZP-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5abd938-1b6a-428e-b8bf-27735c50eda0	09b2073c-4af3-4cd5-a3bb-bdeac945d63b	g.chr5:171773196C>T	ENST00000311601.5	-	12	1302	c.1132G>A	c.(1132-1134)Gaa>Aaa	p.E378K	SH3PXD2B_ENST00000519643.1_Missense_Mutation_p.E378K	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	378	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTCTGGAATTCGGCGATGGTG	0.567																																						ENST00000311601.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1132-1134)Gaa>Aaa		SH3 and PX domains 2B							266	239	248					5																	171773196		2203	4300	6503	SO:0001583	missense	285590				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding	g.chr5:171773196C>T	AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"KIAA1295"	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.1132G>A	5.37:g.171773196C>T	ENSP00000309714:p.Glu378Lys					SH3PXD2B_ENST00000519643.1_Missense_Mutation_p.E378K	p.E378K	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		12	1302	-	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	378			SH3 3.		B6F0V2|Q9P2Q1	Missense_Mutation	SNP	ENST00000311601.5	37	c.1132G>A	CCDS34291.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.141336	0.77775	.	.	ENSG00000174705	ENST00000519643;ENST00000311601	T;T	0.63096	-0.02;0.77	5.31	5.31	0.75309	Src homology-3 domain (4);	0.122489	0.53938	D	0.000058	T	0.60183	0.2249	L	0.46157	1.445	0.48632	D	0.999689	P	0.52170	0.951	B	0.43658	0.426	T	0.66752	-0.5844	10	0.87932	D	0	-15.498	16.4653	0.84077	0.0:1.0:0.0:0.0	.	378	A1X283	SPD2B_HUMAN	K	378	ENSP00000430890:E378K;ENSP00000309714:E378K	ENSP00000309714:E378K	E	-	1	0	SH3PXD2B	171705801	1.000000	0.71417	0.921000	0.36526	0.790000	0.44656	5.678000	0.68153	2.490000	0.84030	0.455000	0.32223	GAA		0.567	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	NM_017963		82	143	0	0	0	1	0	82	143					T	171773196	C	T	171773196	3	4	251	1	0	0	0	0	1	0	0	0	14257	893	31	1	1611	1	SH3PXD2B	5	171773196	Missense_Mutation	SNP	C	TCGA-EL-A3ZP-01A-11D-A23M-08	58910780	171773196	9142064	6	5462											
CDC37L1	55664	broad.mit.edu	37	chr9	4684993	4684993	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacttggtagcttagcactGcataattctgagtccttgga	9	8	1	1			TCGA-EL-A3ZP-01A-11D-A23M-08	TCGA-EL-A3ZP-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5abd938-1b6a-428e-b8bf-27735c50eda0	09b2073c-4af3-4cd5-a3bb-bdeac945d63b	g.chr9:4684993G>A	ENST00000381854.3	+	2	451	c.249G>A	c.(247-249)ctG>ctA	p.L83L	CDC37L1_ENST00000381858.1_Silent_p.L83L|CDC37L1_ENST00000479095.1_3'UTR	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN	cell division cycle 37-like 1	83	Self-association.					cytoplasm (GO:0005737)				breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		GCTTAGCACTGCATAATTCTG	0.463																																						ENST00000381854.3																			0				breast(1)|kidney(1)|lung(2)	4						c.(247-249)ctG>ctA		cell division cycle 37-like 1							138	131	133					9																	4684993		2203	4300	6503	SO:0001819	synonymous_variant	55664					cytoplasm		g.chr9:4684993G>A	AK000497	CCDS6454.1	9p24.1	2013-01-17	2013-01-17		ENSG00000106993	ENSG00000106993			17179	protein-coding gene	gene with protein product		610346	"CDC37 cell division cycle 37 homolog (S. cerevisiae)-like 1", "cell division cycle 37 homolog (S. cerevisiae)-like 1"				Standard	NM_017913		Approved	HARC, FLJ20639, CDC37B	uc003zio.3	Q7L3B6	OTTHUMG00000019465	ENST00000381854.3:c.249G>A	9.37:g.4684993G>A						CDC37L1_ENST00000479095.1_3'UTR|CDC37L1_ENST00000381858.1_Silent_p.L83L	p.L83L	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN		GBM - Glioblastoma multiforme(50;0.0318)	2	451	+	all_hematologic(13;0.137)	Breast(48;0.238)	83			Self-association.		B1AL70|Q9NWS3|Q9NX16	Silent	SNP	ENST00000381854.3	37	c.249G>A	CCDS6454.1																																																																																				0.463	CDC37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051564.1	NM_017913		4	72	0	0	0	1	0	4	72					A	4684993	G	A	4684993	2	1	251	1	0	0	0	0	0	0	0	1	3069	1306	46	2		2	CDC37L1	9	4684993	Silent	SNP	G	TCGA-EL-A3ZP-01A-11D-A23M-08		4684993	136528438	7	5463											
OR5B2	390190	broad.mit.edu	37	chr11	58190069	58190069	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgaatgcatcttcaagatGgtgatgaatatgaacaagta	10	5	2	5			TCGA-EL-A3ZP-01A-11D-A23M-08	TCGA-EL-A3ZP-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5abd938-1b6a-428e-b8bf-27735c50eda0	09b2073c-4af3-4cd5-a3bb-bdeac945d63b	g.chr11:58190069G>A	ENST00000302581.2	-	1	717	c.666C>T	c.(664-666)acC>acT	p.T222T		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCTTCAAGATGGTGATGAATA	0.383																																						ENST00000302581.2																			0				NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(664-666)acC>acT		olfactory receptor, family 5, subfamily B, member 2							87	83	84					11																	58190069		2201	4295	6496	SO:0001819	synonymous_variant	390190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58190069G>A	AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"GPCR / Class A : Olfactory receptors"	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.666C>T	11.37:g.58190069G>A							p.T222T	NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN			1	717	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	222					B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Silent	SNP	ENST00000302581.2	37	c.666C>T	CCDS31550.1																																																																																				0.383	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2	NM_001005566		5	65	0	0	0	1	0	5	65					A	58190069	G	A	58190069	2	1	251	1	0	0	0	0	0	0	0	1	11150	1335	47	2		2	OR5B2	11	58190069	Silent	SNP	G	TCGA-EL-A3ZP-01A-11D-A23M-08		58190069	76816447	8	5464											
EP400	57634	broad.mit.edu	37	chr12	132547135	132547136	+	In_Frame_Ins	INS	-	-	CAG													agcagcagcagcagcagcagINScaacagcagcagcagcaaca							TCGA-EL-A3ZP-01A-11D-A23M-08	TCGA-EL-A3ZP-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5abd938-1b6a-428e-b8bf-27735c50eda0	09b2073c-4af3-4cd5-a3bb-bdeac945d63b	g.chr12:132547135_132547136insCAG	ENST00000333577.4	+	48	8440_8441	c.8331_8332insCAG	c.(8332-8334)caa>CAGcaa	p.2778_2778Q>QQ	EP400_ENST00000330386.6_In_Frame_Ins_p.2661_2661Q>QQ|EP400_ENST00000389562.2_In_Frame_Ins_p.2741_2741Q>QQ|EP400_ENST00000332482.4_In_Frame_Ins_p.2705_2705Q>QQ|EP400_ENST00000389561.2_In_Frame_Ins_p.2742_2742Q>QQ			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	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)			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)		agcagcagcagcaacagcagca	0.589																																						ENST00000333577.4																			0				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.(8329-8334)caaaca>caCAGaaca		E1A binding protein p400																																				SO:0001652	inframe_insertion	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.chr12:132547135_132547136insCAG	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.8329_8331dupCAG	12.37:g.132547133_132547135dupCAG	ENSP00000333602:p.Gln2784dup					EP400_ENST00000330386.6_In_Frame_Ins_p.2660_2660Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2704_2704Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2741_2741Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2740_2740Q>HR	p.2777_2777Q>HR			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8440_8441	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2777			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	In_Frame_Ins	INS	ENST00000333577.4	37	c.8331_8332insCAG																																																																																					0.589	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		9	99						9	99	---	---	---	---	CAG	132547136	-	CAG	132547135	7	5	251	1	0	1	1	0	0	0	0	0	5149	962	34	0	8402	0	EP400	12	132547135	In_Frame_Ins	INS	-	TCGA-EL-A3ZP-01A-11D-A23M-08		132547135	1304760	9	5465											
ST6GALNAC2	10610	broad.mit.edu	37	chr17	74562272	74562272	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagatcgtggtttgcataaaAtatcaatggcttcatttttc	7	7	2	1			TCGA-EL-A3ZP-01A-11D-A23M-08	TCGA-EL-A3ZP-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5abd938-1b6a-428e-b8bf-27735c50eda0	09b2073c-4af3-4cd5-a3bb-bdeac945d63b	g.chr17:74562272A>G	ENST00000225276.5	-	9	1358	c.1039T>C	c.(1039-1041)Ttt>Ctt	p.F347L		NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	347					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						TTTGCATAAAATATCAATGGC	0.502																																						ENST00000225276.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						c.(1039-1041)Ttt>Ctt		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2							169	147	155					17																	74562272		2203	4300	6503	SO:0001583	missense	10610				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr17:74562272A>G	U14550	CCDS11747.1	17q25.1	2013-03-01	2003-12-05	2005-02-07	ENSG00000070731	ENSG00000070731	2.4.99.7	"Sialyltransferases"	10867	protein-coding gene	gene with protein product		610137	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)", "sialyltransferase-like 1"	SIAT7, SIAT7B, SIATL1		11984005	Standard	NM_006456		Approved	ST6GalNAII, STHM	uc002jsg.4	Q9UJ37	OTTHUMG00000180301	ENST00000225276.5:c.1039T>C	17.37:g.74562272A>G	ENSP00000225276:p.Phe347Leu						p.F347L	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN			9	1358	-			347					Q12971	Missense_Mutation	SNP	ENST00000225276.5	37	c.1039T>C	CCDS11747.1	.	.	.	.	.	.	.	.	.	.	A	17.10	3.302735	0.60195	.	.	ENSG00000070731	ENST00000225276	T	0.28895	1.59	5.35	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.51381	0.1671	M	0.70787	2.145	0.54753	D	0.999983	D	0.65815	0.995	D	0.68483	0.958	T	0.50915	-0.8771	10	0.54805	T	0.06	-27.0046	11.569	0.50822	0.8501:0.1499:0.0:0.0	.	347	Q9UJ37	SIA7B_HUMAN	L	347	ENSP00000225276:F347L	ENSP00000225276:F347L	F	-	1	0	ST6GALNAC2	72073867	1.000000	0.71417	0.935000	0.37517	0.066000	0.16364	8.167000	0.89668	0.850000	0.35239	0.533000	0.62120	TTT		0.502	ST6GALNAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450650.1	NM_006456		58	92	0	0	0	1	0	58	92					G	74562272	A	G	74562272	3	3	251	1	0	0	0	0	1	0	0	0	15223	101	4	3	89	3	ST6GALNAC2	17	74562272	Missense_Mutation	SNP	A	TCGA-EL-A3ZP-01A-11D-A23M-08		74562272	6632938	10	5466											
CLCNKB	1188	broad.mit.edu	37	chr1	16378296	16378296	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcaccaatcccatcatgccAggggggtatgctctggcagg	12	12	3	0	rs199755248		TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr1:16378296A>C	ENST00000375679.4	+	14	1500	c.1389A>C	c.(1387-1389)ccA>ccC	p.P463P	CLCNKB_ENST00000375667.3_Silent_p.P294P	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	463					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CCATCATGCCAGGGGGGTATG	0.622													C|||	1	0.000199681	0	0	5008	,	,		18264	0.001		0	False		,,,				2504	0					ENST00000375679.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21	GRCh37	CD004305	CLCNKB	D		c.(1387-1389)ccA>ccC		chloride channel, voltage-sensitive Kb							66	66	66					1																	16378296		2203	4300	6503	SO:0001819	synonymous_variant	1188							g.chr1:16378296A>C	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"Ion channels / Chloride channels : Voltage-sensitive"	2027	protein-coding gene	gene with protein product		602023	"chloride channel Kb"				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.1389A>C	1.37:g.16378296A>C						CLCNKB_ENST00000375667.3_Silent_p.P294P	p.P463P	NM_000085.4	NP_000076.2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	14	1500	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)						B3KUY3|Q5T5Q7|Q5T5Q8	Silent	SNP	ENST00000375679.4	37	c.1389A>C	CCDS168.1																																																																																				0.622	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		6	96	0	0	0	1	0	6	96					C	16378296	A	C	16378296	2	2	252	1	0	0	0	0	0	0	0	1	3470	175	7	5		5	CLCNKB	1	16378296	Silent	SNP	A	TCGA-EL-A3ZQ-01A-11D-A23M-08		16378296	232872325	1	5467											
NTNG1	22854	broad.mit.edu	37	chr1	107867092	107867092	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcaaaaccattgagctaacAgacaacatagttattacctt	5	9	0	2			TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr1:107867092A>C	ENST00000370068.1	+	3	1281	c.435A>C	c.(433-435)acA>acC	p.T145T	NTNG1_ENST00000370072.3_Silent_p.T145T|NTNG1_ENST00000370071.2_Silent_p.T145T|NTNG1_ENST00000370065.1_Silent_p.T145T|NTNG1_ENST00000370074.4_Silent_p.T145T|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370073.2_Silent_p.T145T|NTNG1_ENST00000370067.1_Silent_p.T145T|NTNG1_ENST00000370070.2_Silent_p.T145T|NTNG1_ENST00000542803.1_Silent_p.T145T|NTNG1_ENST00000370061.3_Silent_p.T145T|NTNG1_ENST00000370066.1_Silent_p.T145T			Q9Y2I2	NTNG1_HUMAN	netrin G1	145	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		TTGAGCTAACAGACAACATAG	0.463																																						ENST00000370067.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37						c.(433-435)acA>acC		netrin G1							101	105	103					1																	107867092		2203	4299	6502	SO:0001819	synonymous_variant	22854				axonogenesis	anchored to plasma membrane	protein binding	g.chr1:107867092A>C	AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"Netrins"	23319	protein-coding gene	gene with protein product	"netrin G1f", "Netrin-G1"	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.435A>C	1.37:g.107867092A>C						NTNG1_ENST00000370061.3_Silent_p.T145T|NTNG1_ENST00000370065.1_Silent_p.T145T|NTNG1_ENST00000370070.2_Silent_p.T145T|NTNG1_ENST00000370071.2_Silent_p.T145T|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370066.1_Silent_p.T145T|NTNG1_ENST00000370072.3_Silent_p.T145T|NTNG1_ENST00000370074.4_Silent_p.T145T|NTNG1_ENST00000542803.1_Silent_p.T145T|NTNG1_ENST00000370068.1_Silent_p.T145T|NTNG1_ENST00000370073.2_Silent_p.T145T	p.T145T			Q9Y2I2	NTNG1_HUMAN		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)	3	1062	+		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)	145			Laminin N-terminal.		Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Silent	SNP	ENST00000370068.1	37	c.435A>C	CCDS44180.1																																																																																				0.463	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917		29	51	0	0	0	1	0	29	51					C	107867092	A	C	107867092	2	2	252	1	0	0	0	0	0	0	0	1	10704	175	7	5		5	NTNG1	1	107867092	Silent	SNP	A	TCGA-EL-A3ZQ-01A-11D-A23M-08	91488796	107867092	141383529	2	5468											
DAXX	1616	broad.mit.edu	37	chr6	33287900	33287900	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcctcctcttcttcttcCtcctcctcctcctcttcctc	1	23	4	0			TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr6:33287900C>T	ENST00000374542.5	-	5	1557	c.1353G>A	c.(1351-1353)gaG>gaA	p.E451E	DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000266000.6_Silent_p.E451E|DAXX_ENST00000414083.2_Silent_p.E376E|ZBTB22_ENST00000418724.1_5'Flank|ZBTB22_ENST00000431845.2_5'Flank	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	451	Asp/Glu-rich (acidic).|Necessary for interaction with USP7.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.E451E(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						cttcttcttcctcctcctcct	0.557			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM																																	ENST00000374542.5				Rec	yes		6	6p21.3	1616	"Mis, F, N"	death-domain associated protein			E			Pancreatic neuroendocrine tumors. Paediatric GBM		2	Substitution - coding silent(2)	p.E451E(2)	prostate(1)|kidney(1)	breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						c.(1351-1353)gaG>gaA		death-domain associated protein							127	100	109					6																	33287900		2203	4300	6503	SO:0001819	synonymous_variant	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33287900C>T	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"death-associated protein 6"			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.1353G>A	6.37:g.33287900C>T						DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000266000.6_Silent_p.E451E|DAXX_ENST00000414083.2_Silent_p.E376E	p.E451E	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN			5	1557	-			451			Asp/Glu-rich (acidic).|Necessary for interaction with USP7.		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Silent	SNP	ENST00000374542.5	37	c.1353G>A	CCDS4776.1																																																																																				0.557	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			4	44	0	0	0	1	0	4	44					T	33287900	C	T	33287900	2	4	252	1	0	0	0	0	0	0	0	1	4243	680	24	2		2	DAXX	6	33287900	Silent	SNP	C	TCGA-EL-A3ZQ-01A-11D-A23M-08		33287900	137827167	3	5469											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		17	28	0	0	0	1	0	17	28					T	140453136	A	T	140453136	3	4	252	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3ZQ-01A-11D-A23M-08		140453136	18685527	4	5470											
TG	7038	broad.mit.edu	37	chr8	133895206	133895207	+	Frame_Shift_Ins	INS	-	-	G													gacgcccaggggaaggaaatINSgcatggaacccggcagcaag							TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr8:133895206_133895207insG	ENST00000220616.4	+	8	1077_1078	c.1037_1038insG	c.(1036-1041)atgcatfs	p.H347fs	TG_ENST00000377869.1_Frame_Shift_Ins_p.H347fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	347	Thyroglobulin type-1 4. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGGAAGGAAATGCATGGAACCC	0.614																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(1036-1038)acafs		thyroglobulin																																				SO:0001589	frameshift_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133895206_133895207insG	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.1038dupG	8.37:g.133895207_133895207dupG	ENSP00000220616:p.His347fs					TG_ENST00000377869.1_Frame_Shift_Ins_p.T346fs	p.T346fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	8	1077_1078	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	346			Thyroglobulin type-1 4.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Frame_Shift_Ins	INS	ENST00000220616.4	37	c.1037_1038insG	CCDS34944.1																																																																																				0.614	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		20	26						20	26	---	---	---	---	G	133895207	-	G	133895206	7	5	252	1	0	1	1	0	0	0	0	0	15810	1464	51	0	1067	0	TG	8	133895206	Frame_Shift_Ins	INS	-	TCGA-EL-A3ZQ-01A-11D-A23M-08		133895206	12468816	5	5471											
DIP2C	22982	broad.mit.edu	37	chr10	459978	459978	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcggccagttcgtgaccacgCccagctgctctccgcgcatg	12	17	1	1			TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr10:459978C>G	ENST00000280886.6	-	8	1019	c.932G>C	c.(931-933)gGc>gCc	p.G311A	DIP2C_ENST00000381496.3_Missense_Mutation_p.G204A	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	311						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CGTGACCACGCCCAGCTGCTC	0.627																																						ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(931-933)gGc>gCc		DIP2 disco-interacting protein 2 homolog C (Drosophila)							49	52	51					10																	459978		2203	4299	6502	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:459978C>G	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"KIAA0934"	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.932G>C	10.37:g.459978C>G	ENSP00000280886:p.Gly311Ala					DIP2C_ENST00000381496.3_Missense_Mutation_p.G204A	p.G311A	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	8	1019	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	311					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.932G>C	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.969294	0.34754	.	.	ENSG00000151240	ENST00000280886;ENST00000381496	T;T	0.45668	0.89;0.89	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.40546	0.1121	L	0.58428	1.81	0.80722	D	1	B;B	0.17038	0.02;0.0	B;B	0.16722	0.016;0.001	T	0.37291	-0.9712	10	0.08599	T	0.76	-26.2516	18.7949	0.91990	0.0:1.0:0.0:0.0	.	204;311	E7EPU2;Q9Y2E4	.;DIP2C_HUMAN	A	311;204	ENSP00000280886:G311A;ENSP00000370907:G204A	ENSP00000280886:G311A	G	-	2	0	DIP2C	449978	1.000000	0.71417	0.948000	0.38648	0.303000	0.27691	7.776000	0.85560	2.427000	0.82271	0.655000	0.94253	GGC		0.627	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		27	76	0	0	0	1	0	27	76					G	459978	C	G	459978	3	3	252	1	0	0	0	0	1	0	0	0	4529	739	26	4	3858	4	DIP2C	10	459978	Missense_Mutation	SNP	C	TCGA-EL-A3ZQ-01A-11D-A23M-08		459978	135074769	6	5472											
DNAJC12	56521	broad.mit.edu	37	chr10	69556970	69556970	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccattcacatctgcaaaaccTttaaaggaaagaaagtaaat	5	8	2	1			TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr10:69556970T>C	ENST00000225171.2	-	5	655		c.e5-2		DNAJC12_ENST00000483798.2_Splice_Site	NM_021800.2	NP_068572.1	Q9UKB3	DJC12_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 12											breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						CTGCAAAACCTTTAAAGGAAA	0.378																																						ENST00000225171.2																			0				breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						c.e5-2		DnaJ (Hsp40) homolog, subfamily C, member 12							52	50	51					10																	69556970		2203	4300	6503	SO:0001630	splice_region_variant	56521				protein folding		heat shock protein binding|unfolded protein binding	g.chr10:69556970T>C	AF176012	CCDS7271.1, CCDS7272.1	10q21.3	2011-09-02			ENSG00000108176	ENSG00000108176		"Heat shock proteins / DNAJ (HSP40)"	28908	protein-coding gene	gene with protein product	"J domain protein 1"	606060				10760603	Standard	NM_021800		Approved	JDP1	uc001jnb.3	Q9UKB3	OTTHUMG00000018339	ENST00000225171.2:c.503-2A>G	10.37:g.69556970T>C						DNAJC12_ENST00000483798.2_Splice_Site		NM_021800.2	NP_068572.1	Q9UKB3	DJC12_HUMAN			5	655	-								Q5JVQ1|Q9UKB2	Splice_Site	SNP	ENST00000225171.2	37		CCDS7271.1	.	.	.	.	.	.	.	.	.	.	T	9.862	1.196580	0.22037	.	.	ENSG00000108176	ENST00000225171	.	.	.	5.49	3.06	0.35304	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.1003	0.25333	0.1469:0.0:0.1539:0.6992	.	.	.	.	.	-1	.	.	.	-	.	.	DNAJC12	69226976	0.887000	0.30362	0.001000	0.08648	0.020000	0.10135	2.209000	0.42806	0.418000	0.25898	0.533000	0.62120	.		0.378	DNAJC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048291.1	NM_021800	Intron	9	12	0	0	0	1	0	9	12					C	69556970	T	C	69556970	5	2	252	1	0	0	0	0	0	0	1	0	4631	1623	56	3	99	3	DNAJC12	10	69556970	Splice_Site	SNP	T	TCGA-EL-A3ZQ-01A-11D-A23M-08	69096992	69556970	65977777	7	5473											
FOLH1	2346	broad.mit.edu	37	chr11	49208318	49208318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atagttaacatacactagatCgccctgttgagatcgggaat	9	8	0	2			TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr11:49208318C>T	ENST00000256999.2	-	5	777	c.517G>A	c.(517-519)Gat>Aat	p.D173N	FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000533034.1_Missense_Mutation_p.D158N|FOLH1_ENST00000340334.7_Missense_Mutation_p.D158N|FOLH1_ENST00000356696.3_Missense_Mutation_p.D173N	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	173					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TACACTAGATCGCCCTGTTGA	0.393																																						ENST00000340334.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60						c.(472-474)Gat>Aat		folate hydrolase (prostate-specific membrane antigen) 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						90	89	89					11																	49208318		2201	4298	6499	SO:0001583	missense	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49208318C>T	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.517G>A	11.37:g.49208318C>T	ENSP00000256999:p.Asp173Asn					FOLH1_ENST00000533034.1_Missense_Mutation_p.D158N|FOLH1_ENST00000256999.2_Missense_Mutation_p.D173N|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000356696.3_Missense_Mutation_p.D173N	p.D158N	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN			6	840	-			173					A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	c.472G>A	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392086	0.42410	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724	T;T;T;T	0.06768	3.26;3.26;3.26;3.26	3.05	3.05	0.35203	Protease-associated domain, PA (1);	0.236753	0.29266	N	0.012650	T	0.09555	0.0235	L	0.52266	1.64	0.80722	D	1	B;B;B;B	0.25169	0.119;0.04;0.06;0.002	B;B;B;B	0.25759	0.063;0.021;0.039;0.003	T	0.11494	-1.0585	10	0.46703	T	0.11	.	11.9601	0.53003	0.0:1.0:0.0:0.0	.	158;158;173;173	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	N	173;173;158;158;173	ENSP00000256999:D173N;ENSP00000349129:D173N;ENSP00000344131:D158N;ENSP00000431463:D158N	ENSP00000256999:D173N	D	-	1	0	FOLH1	49164894	1.000000	0.71417	0.990000	0.47175	0.636000	0.38137	6.933000	0.75874	1.746000	0.51805	0.430000	0.28490	GAT		0.393	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		14	32	0	0	0	1	0	14	32					T	49208318	C	T	49208318	3	4	252	1	0	0	0	0	1	0	0	0	5979	884	31	1	1795	1	FOLH1	11	49208318	Missense_Mutation	SNP	C	TCGA-EL-A3ZQ-01A-11D-A23M-08		49208318	85798198	8	5474											
ACSS3	79611	broad.mit.edu	37	chr12	81503376	81503376	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaacatttgttacaatgccGttgatcgtcatattgaaaat	6	6	1	2	rs368706037		TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr12:81503376G>A	ENST00000548058.1	+	2	1259	c.349G>A	c.(349-351)Gtt>Att	p.V117I	RP11-543H12.1_ENST00000547123.1_RNA|ACSS3_ENST00000261206.3_Missense_Mutation_p.V116I			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	117						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TTACAATGCCGTTGATCGTCA	0.323																																						ENST00000548058.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						c.(349-351)Gtt>Att		acyl-CoA synthetase short-chain family member 3		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	108	106	107		349	0.4	1.0	12		107	0,8598		0,0,4299	no	missense	ACSS3	NM_024560.2	29	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	117/687	81503376	1,13003	2203	4299	6502	SO:0001583	missense	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81503376G>A		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"Acyl-CoA synthetase family"	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.349G>A	12.37:g.81503376G>A	ENSP00000449535:p.Val117Ile					ACSS3_ENST00000261206.3_Missense_Mutation_p.V116I|RP11-543H12.1_ENST00000547123.1_RNA	p.V117I			Q9H6R3	ACSS3_HUMAN			2	1259	+			117					Q8NC66	Missense_Mutation	SNP	ENST00000548058.1	37	c.349G>A	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.655604	0.29425	2.27E-4	0.0	ENSG00000111058	ENST00000549175;ENST00000548058;ENST00000261206	T;T;T	0.47528	0.84;2.9;2.9	6.07	0.424	0.16468	Acyl-CoA synthase, domain of unknown function DUF3448 (1);	0.161948	0.53938	N	0.000060	T	0.27798	0.0684	N	0.21097	0.63	0.80722	D	1	B	0.11235	0.004	B	0.14578	0.011	T	0.03545	-1.1026	10	0.33940	T	0.23	-7.6977	6.4092	0.21682	0.4976:0.1319:0.3705:0.0	.	117	Q9H6R3	ACSS3_HUMAN	I	9;117;116	ENSP00000447748:V9I;ENSP00000449535:V117I;ENSP00000261206:V116I	ENSP00000261206:V116I	V	+	1	0	ACSS3	80027507	0.991000	0.36638	0.976000	0.42696	0.870000	0.49936	0.255000	0.18333	-0.119000	0.11830	-1.052000	0.02337	GTT		0.323	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		3	26	0	0	0	1	0	3	26					A	81503376	G	A	81503376	3	1	252	1	0	0	0	0	1	0	0	0	190	1145	40	1	355	1	ACSS3	12	81503376	Missense_Mutation	SNP	G	TCGA-EL-A3ZQ-01A-11D-A23M-08		81503376	52348519	9	5475											
UGGT2	55757	broad.mit.edu	37	chr13	96705526	96705526	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gccacagcgctgtggagcctAgtagcagccgcaccacgttc	12	15	0	0			TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr13:96705526A>T	ENST00000376747.3	-	1	111	c.41T>A	c.(40-42)cTa>cAa	p.L14Q	UGGT2_ENST00000397618.3_Missense_Mutation_p.L14Q|UGGT2_ENST00000376712.4_Missense_Mutation_p.L14Q|UGGT2_ENST00000376714.3_Missense_Mutation_p.L14Q	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	14					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TGTGGAGCCTAGTAGCAGCCG	0.687																																						ENST00000376747.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						c.(40-42)cTa>cAa		UDP-glucose glycoprotein glucosyltransferase 2							9	9	9					13																	96705526		2149	4198	6347	SO:0001583	missense	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96705526A>T	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"UDP-glucose:glycoprotein glucosyltransferase 2"	605898	"UDP-glucose ceramide glucosyltransferase-like 2"	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.41T>A	13.37:g.96705526A>T	ENSP00000365938:p.Leu14Gln					UGGT2_ENST00000397618.3_Missense_Mutation_p.L14Q|UGGT2_ENST00000376714.3_Missense_Mutation_p.L14Q|UGGT2_ENST00000376712.4_Missense_Mutation_p.L14Q	p.L14Q	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN			1	111	-			14					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	c.41T>A	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.993327	0.74703	.	.	ENSG00000102595	ENST00000376747;ENST00000376722;ENST00000376714;ENST00000397618;ENST00000376712	T;T	0.36699	2.89;1.24	4.08	4.08	0.47627	.	0.549730	0.17455	N	0.173655	T	0.57227	0.2039	M	0.76574	2.34	0.26092	N	0.980948	D;D;B	0.76494	0.999;0.999;0.272	D;D;B	0.85130	0.997;0.997;0.042	T	0.49000	-0.8984	10	0.87932	D	0	-7.1028	9.6163	0.39694	1.0:0.0:0.0:0.0	.	14;14;14	Q2TAA6;E7EMU6;Q9NYU1	.;.;UGGG2_HUMAN	Q	14	ENSP00000365938:L14Q;ENSP00000380743:L14Q	ENSP00000365902:L14Q	L	-	2	0	UGGT2	95503527	0.473000	0.25878	0.179000	0.23059	0.004000	0.04260	1.814000	0.38972	1.841000	0.53522	0.379000	0.24179	CTA		0.687	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		5	11	0	0	0	1	0	5	11					T	96705526	A	T	96705526	3	4	252	1	0	0	0	0	1	0	0	0	16939	420	15	5	4665	5	UGGT2	13	96705526	Missense_Mutation	SNP	A	TCGA-EL-A3ZQ-01A-11D-A23M-08		96705526	18464352	10	5476											
USP6	9098	broad.mit.edu	37	chr17	5042837	5042837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagtggaagtcaatgcccCggctcccaacggacctggat	13	12	1	0	rs61745111	byFrequency	TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr17:5042837C>T	ENST00000574788.1	+	22	3596	c.1366C>T	c.(1366-1368)Cgg>Tgg	p.R456W	USP6_ENST00000332776.4_Missense_Mutation_p.R456W|USP6_ENST00000304328.5_Missense_Mutation_p.R139W|USP6_ENST00000250066.6_Missense_Mutation_p.R456W			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	456					cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)	p.R456W(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GTCAATGCCCCGGCTCCCAAC	0.612			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								C|||	509	0.101637	0.1982	0.0375	5008	,	,		18531	0.0784		0.1153	False		,,,				2504	0.0266					ENST00000574788.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"COL1A1, CDH11, ZNF9, OMD"		aneurysmal bone cysts		1	Substitution - Missense(1)	p.R456W(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(1366-1368)Cgg>Tgg		ubiquitin specific peptidase 6 (Tre-2 oncogene)		C	TRP/ARG	710,3696	291.3+/-281.4	62,586,1555	51	59	56		1366	-0.5	0.0	17	dbSNP_129	56	951,7649	208.3+/-249.8	52,847,3401	yes	missense	USP6	NM_004505.2	101	114,1433,4956	TT,TC,CC		11.0581,16.1144,12.771	benign	456/1407	5042837	1661,11345	2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5042837C>T	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"Ubiquitin-specific peptidases"	12629	protein-coding gene	gene with protein product	"ubiquitin carboxyl-terminal hydrolase 6", "TBC1D3 and USP32 fusion", "Tre-2 oncogene"	604334	"ubiquitin specific protease 6 (Tre-2 oncogene)", "TRE oncogene, Smith Magenis syndrome chromosome region", "ubiquitin specific peptidase 6 (Tre-2 oncogene)"	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.1366C>T	17.37:g.5042837C>T	ENSP00000460380:p.Arg456Trp					USP6_ENST00000250066.6_Missense_Mutation_p.R456W|USP6_ENST00000304328.5_Missense_Mutation_p.R139W|USP6_ENST00000332776.4_Missense_Mutation_p.R456W	p.R456W			P35125	UBP6_HUMAN			22	3596	+			456					Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.1366C>T	CCDS11069.2	250	0.11446886446886446	97	0.19715447154471544	16	0.04419889502762431	52	0.09090909090909091	85	0.11213720316622691	C	1.018	-0.685710	0.03328	0.161144	0.110581	ENSG00000129204	ENST00000332776;ENST00000250066;ENST00000304328	T;T;T	0.25749	2.19;2.68;1.78	0.266	-0.532	0.11890	.	0.290613	0.37012	N	0.002286	T	0.00012	0.0000	N	0.24115	0.695	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38373	-0.9664	8	0.87932	D	0	.	.	.	.	rs61745111	139;456	P35125-2;P35125	.;UBP6_HUMAN	W	456;456;139	ENSP00000328010:R456W;ENSP00000250066:R456W;ENSP00000305473:R139W	ENSP00000250066:R456W	R	+	1	2	USP6	4983561	0.025000	0.19082	0.000000	0.03702	0.000000	0.00434	-1.254000	0.02874	-2.211000	0.00737	-2.287000	0.00268	CGG		0.612	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		5	72	0	0	0	1	0	5	72					T	5042837	C	T	5042837	3	4	252	1	0	0	0	0	1	0	0	0	17083	643	23	1	1416	1	USP6	17	5042837	Missense_Mutation	SNP	C	TCGA-EL-A3ZQ-01A-11D-A23M-08		5042837	76152373	11	5477											
MYO15A	51168	broad.mit.edu	37	chr17	18077153	18077153	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgcggacccagcggcccaCggccaactccagctacccct	10	20	0	0	rs371592889		TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr17:18077153C>T	ENST00000205890.5	+	65	10747	c.10409C>T	c.(10408-10410)aCg>aTg	p.T3470M	RP11-258F1.1_ENST00000583062.1_RNA|RP11-258F1.1_ENST00000577847.1_RNA|MYO15A_ENST00000451725.2_Intron|MYO15A_ENST00000418233.3_Missense_Mutation_p.T734M	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3470	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CAGCGGCCCACGGCCAACTCC	0.662																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(10408-10410)aCg>aTg		myosin XVA		C	MET/THR	1,3907		0,1,1953	40	43	42		10409	5.0	0.9	17		42	0,8272		0,0,4136	no	missense	MYO15A	NM_016239.3	81	0,1,6089	TT,TC,CC		0.0,0.0256,0.0082	probably-damaging	3470/3531	18077153	1,12179	1954	4136	6090	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18077153C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.10409C>T	17.37:g.18077153C>T	ENSP00000205890:p.Thr3470Met					RP11-258F1.1_ENST00000577847.1_RNA|MYO15A_ENST00000451725.2_Intron|MYO15A_ENST00000418233.3_Missense_Mutation_p.T734M	p.T3470M	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			65	10747	+	all_neural(463;0.228)		3470			FERM.|Tail.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.10409C>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.914501	0.52546	2.56E-4	0.0	ENSG00000091536	ENST00000205890	D	0.88431	-2.38	5.95	4.98	0.66077	FERM domain (1);	.	.	.	.	D	0.92047	0.7480	L	0.56769	1.78	0.80722	D	1	P;D	0.89917	0.507;1.0	B;P	0.61800	0.114;0.894	D	0.92201	0.5768	9	0.52906	T	0.07	.	14.701	0.69157	0.0:0.9299:0.0:0.0701	.	734;3470	B4DFC7;Q9UKN7	.;MYO15_HUMAN	M	3470	ENSP00000205890:T3470M	ENSP00000205890:T3470M	T	+	2	0	MYO15A	18017878	1.000000	0.71417	0.915000	0.36163	0.995000	0.86356	5.858000	0.69532	1.516000	0.48900	0.655000	0.94253	ACG		0.662	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		6	78	0	0	0	1	0	6	78					T	18077153	C	T	18077153	3	4	252	1	0	0	0	0	1	0	0	0	10063	536	19	1	10659	1	MYO15A	17	18077153	Missense_Mutation	SNP	C	TCGA-EL-A3ZQ-01A-11D-A23M-08	13034316	18077153	63118057	12	5478											
SMCR8	140775	broad.mit.edu	37	chr17	18219366	18219366	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttggcacttttgatctcaAttacttctccctgcgtatca	5	11	3	1			TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr17:18219366A>G	ENST00000406438.3	+	1	743	c.263A>G	c.(262-264)aAt>aGt	p.N88S	TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000542570.1_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	88						nucleus (GO:0005634)		p.N88S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TTTGATCTCAATTACTTCTCC	0.507																																						ENST00000406438.3																			1	Substitution - Missense(1)	p.N88S(1)	kidney(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(262-264)aAt>aGt		Smith-Magenis syndrome chromosome region, candidate 8							204	186	192					17																	18219366		2203	4300	6503	SO:0001583	missense	140775							g.chr17:18219366A>G	AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.263A>G	17.37:g.18219366A>G	ENSP00000385025:p.Asn88Ser						p.N88S	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN			1	743	+			88					A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	37	c.263A>G	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	A	18.77	3.695730	0.68386	.	.	ENSG00000176994	ENST00000406438	T	0.29655	1.56	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.52058	0.1711	L	0.54323	1.7	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.51156	-0.8741	10	0.56958	D	0.05	-16.7337	16.1605	0.81700	1.0:0.0:0.0:0.0	.	88	Q8TEV9	SMCR8_HUMAN	S	88	ENSP00000385025:N88S	ENSP00000385025:N88S	N	+	2	0	SMCR8	18160091	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.829000	0.92055	2.220000	0.72140	0.533000	0.62120	AAT		0.507	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		69	111	0	0	0	1	0	69	111					G	18219366	A	G	18219366	3	3	252	1	0	0	0	0	1	0	0	0	14792	101	4	3	265	3	SMCR8	17	18219366	Missense_Mutation	SNP	A	TCGA-EL-A3ZQ-01A-11D-A23M-08	142213	18219366	62975844	13	5479											
USH1G	124590	broad.mit.edu	37	chr17	72916218	72916218	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcgagcgggcgctcttgCgcccatcctcggagaccttg	14	14	1	2			TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr17:72916218C>T	ENST00000319642.1	-	2	895	c.713G>A	c.(712-714)cGc>cAc	p.R238H		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	238					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)		HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					GGCGCTCTTGCGCCCATCCTC	0.687																																						ENST00000319642.1																		HN1/USH1G(2)	0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14						c.(712-714)cGc>cAc		Usher syndrome 1G (autosomal recessive)							38	43	42					17																	72916218		2198	4279	6477	SO:0001583	missense	124590				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton		g.chr17:72916218C>T	AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.713G>A	17.37:g.72916218C>T	ENSP00000320076:p.Arg238His						p.R238H	NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN			2	895	-	all_lung(278;0.172)|Lung NSC(278;0.207)		238					Q8N251	Missense_Mutation	SNP	ENST00000319642.1	37	c.713G>A	CCDS32725.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.472612	0.84640	.	.	ENSG00000182040	ENST00000319642	T	0.74209	-0.82	3.68	3.68	0.42216	.	0.000000	0.85682	D	0.000000	D	0.83547	0.5278	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.85180	0.1003	10	0.52906	T	0.07	-25.7575	15.9969	0.80256	0.0:1.0:0.0:0.0	.	238	Q495M9	USH1G_HUMAN	H	238	ENSP00000320076:R238H	ENSP00000320076:R238H	R	-	2	0	USH1G	70427813	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	7.604000	0.82830	2.075000	0.62263	0.485000	0.47835	CGC		0.687	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443676.1	NM_173477		7	104	0	0	0	1	0	7	104					T	72916218	C	T	72916218	3	4	252	1	0	0	0	0	1	0	0	0	17032	768	27	1	680	1	USH1G	17	72916218	Missense_Mutation	SNP	C	TCGA-EL-A3ZQ-01A-11D-A23M-08	54696852	72916218	8278992	14	5480											
POMGNT1	55624	broad.mit.edu	37	chr1	46663383	46663383	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catctctatacctgacagaaTctccgcagggcccgctggtt	9	14	2	2			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr1:46663383T>C	ENST00000371984.3	-	2	268	c.111A>G	c.(109-111)agA>agG	p.R37R	POMGNT1_ENST00000371986.3_Silent_p.R37R|POMGNT1_ENST00000396420.3_Silent_p.R37R|POMGNT1_ENST00000535522.1_5'Flank|POMGNT1_ENST00000371992.1_Silent_p.R37R	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	37					protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					CCTGACAGAATCTCCGCAGGG	0.602																																						ENST00000396420.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(109-111)agA>agG		protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)							71	76	74					1																	46663383		2203	4300	6503	SO:0001819	synonymous_variant	55624				protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity	g.chr1:46663383T>C		CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	19139	protein-coding gene	gene with protein product	"protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"	606822	"muscle-eye-brain disease", "protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.111A>G	1.37:g.46663383T>C						POMGNT1_ENST00000371984.3_Silent_p.R37R|POMGNT1_ENST00000371992.1_Silent_p.R37R|POMGNT1_ENST00000371986.3_Silent_p.R37R	p.R37R			Q8WZA1	PMGT1_HUMAN			2	747	-	Acute lymphoblastic leukemia(166;0.155)		37					D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Silent	SNP	ENST00000371984.3	37	c.111A>G	CCDS531.1																																																																																				0.602	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020146.1	NM_017739		31	76	0	0	0	1	0	31	76					C	46663383	T	C	46663383	2	2	253	1	0	0	0	0	0	0	0	1	12243	1432	50	3		3	POMGNT1	1	46663383	Silent	SNP	T	TCGA-EL-A3ZR-01A-11D-A23M-08		46663383	202587238	1	5481											
RDH14	57665	broad.mit.edu	37	chr2	18736681	18736681	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attgaagagtggtttgaccaAcagtggaatgtgtatgtgcc	13	5	0	3			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr2:18736681A>T	ENST00000381249.3	-	2	894	c.787T>A	c.(787-789)Ttg>Atg	p.L263M	RDH14_ENST00000468071.1_5'UTR	NM_020905.3	NP_065956.1	Q9HBH5	RDH14_HUMAN	retinol dehydrogenase 14 (all-trans/9-cis/11-cis)	263					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)				Vitamin A(DB00162)	GGTTTGACCAACAGTGGAATG	0.473																																						ENST00000381249.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6						c.(787-789)Ttg>Atg		retinol dehydrogenase 14 (all-trans/9-cis/11-cis)							185	177	180					2																	18736681		2203	4300	6503	SO:0001583	missense	57665							g.chr2:18736681A>T	AF237952	CCDS1693.1	2p24.2	2011-09-14	2006-05-09		ENSG00000240857	ENSG00000240857	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	19979	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 4"		"retinol dehydrogenase 14 (all-trans and 9-cis)"			12226107, 19027726	Standard	NM_020905		Approved	PAN2, SDR7C4		Q9HBH5	OTTHUMG00000090705	ENST00000381249.3:c.787T>A	2.37:g.18736681A>T	ENSP00000370648:p.Leu263Met					RDH14_ENST00000468071.1_5'UTR	p.L263M	NM_020905.3	NP_065956.1					2	894	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)								Missense_Mutation	SNP	ENST00000381249.3	37	c.787T>A	CCDS1693.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.234650	0.58886	.	.	ENSG00000240857	ENST00000381249	D	0.82081	-1.57	5.67	0.0741	0.14393	NAD(P)-binding domain (1);	.	.	.	.	T	0.79845	0.4516	N	0.25426	0.745	0.50467	D	0.999876	D	0.61697	0.99	P	0.56434	0.798	T	0.75852	-0.3171	9	0.45353	T	0.12	.	10.4886	0.44737	0.4383:0.0:0.5617:0.0	.	263	Q9HBH5	RDH14_HUMAN	M	263	ENSP00000370648:L263M	ENSP00000370648:L263M	L	-	1	2	RDH14	18600162	0.998000	0.40836	0.975000	0.42487	0.918000	0.54935	1.962000	0.40442	0.100000	0.17581	0.533000	0.62120	TTG		0.473	RDH14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207394.1			47	133	0	0	0	1	0	47	133					T	18736681	A	T	18736681	3	4	253	1	0	0	0	0	1	0	0	0	13193	40	2	5	227	5	RDH14	2	18736681	Missense_Mutation	SNP	A	TCGA-EL-A3ZR-01A-11D-A23M-08		18736681	224462692	2	5482											
EPC2	26122	broad.mit.edu	37	chr2	149528907	149528907	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actgtgaacaataaaagagtTtctgcagcatctgtagcttt	8	7	2	2			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr2:149528907T>G	ENST00000258484.6	+	10	1705	c.1671T>G	c.(1669-1671)gtT>gtG	p.V557V		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	557					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		ATAAAAGAGTTTCTGCAGCAT	0.383																																						ENST00000258484.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(1669-1671)gtT>gtG		enhancer of polycomb homolog 2 (Drosophila)							133	127	129					2																	149528907		1880	4100	5980	SO:0001819	synonymous_variant	26122				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:149528907T>G	AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.1671T>G	2.37:g.149528907T>G							p.V557V	NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0516)	10	1705	+			557					B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Silent	SNP	ENST00000258484.6	37	c.1671T>G	CCDS46422.1																																																																																				0.383	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	NM_015630		19	76	0	0	0	1	0	19	76					G	149528907	T	G	149528907	2	3	253	1	0	0	0	0	0	0	0	1	5161	1828	64	5		5	EPC2	2	149528907	Silent	SNP	T	TCGA-EL-A3ZR-01A-11D-A23M-08	130792226	149528907	93670466	3	5483											
INTU	27152	broad.mit.edu	37	chr4	128564831	128564832	+	Frame_Shift_Ins	INS	-	-	T													attatcattgaagatgactaINScaaagaaagaaaaaagtatg							TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr4:128564831_128564832insT	ENST00000335251.6	+	2	405_406	c.302_303insT	c.(301-306)tacaaafs	p.K102fs	INTU_ENST00000296461.5_Frame_Shift_Ins_p.K102fs	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	102					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						GAAGATGACTACAAAGAAAGAA	0.361																																						ENST00000335251.5																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						c.(301-303)taafs		inturned planar cell polarity protein																																				SO:0001589	frameshift_variant	27152							g.chr4:128564831_128564832insT	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"PDZ domain containing 6", "inturned planar cell polarity effector homolog (Drosophila)"	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	Exception_encountered	4.37:g.128564831_128564832insT	ENSP00000334003:p.Lys102fs					INTU_ENST00000296461.5_Frame_Shift_Ins_p.*101fs	p.*101fs	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN			2	405_406	+			101					A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Frame_Shift_Ins	INS	ENST00000335251.6	37	c.302_303insT	CCDS34061.1																																																																																				0.361	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		7	151						7	151	---	---	---	---	T	128564832	-	T	128564831	7	5	253	1	0	1	1	0	0	0	0	0	7786	391	14	0	308	0	INTU	4	128564831	Frame_Shift_Ins	INS	-	TCGA-EL-A3ZR-01A-11D-A23M-08		128564831	62589445	4	5484											
PPP1R3B	79660	broad.mit.edu	37	chr8	8998675	8998675	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtgtcgaacgtcatccTtattttcacggtcttctcaa	7	12	4	0			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr8:8998675T>G	ENST00000310455.3	-	2	637	c.487A>C	c.(487-489)Agg>Cgg	p.R163R	RP11-10A14.3_ENST00000520017.1_RNA|PPP1R3B_ENST00000519699.1_Silent_p.R163R|RP11-10A14.3_ENST00000522057.1_RNA	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	163	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase regulator activity (GO:0019888)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		AACGTCATCCTTATTTTCACG	0.512																																						ENST00000310455.3																			0				endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12						c.(487-489)Agg>Cgg		protein phosphatase 1, regulatory subunit 3B							231	196	208					8																	8998675		2203	4300	6503	SO:0001819	synonymous_variant	79660				glycogen metabolic process			g.chr8:8998675T>G	AK024067	CCDS5973.1	8p23.1	2012-04-17	2011-10-04		ENSG00000173281	ENSG00000173281		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14942	protein-coding gene	gene with protein product	"PP1 subunit R4", "hepatic glycogen-targeting subunit, G(L)"	610541	"protein phosphatase 1, regulatory (inhibitor) subunit 3B"			11948623, 17555403	Standard	NM_024607		Approved	GL, FLJ14005, PPP1R4	uc003wsn.4	Q86XI6	OTTHUMG00000129329	ENST00000310455.3:c.487A>C	8.37:g.8998675T>G						PPP1R3B_ENST00000519699.1_Silent_p.R163R	p.R163R	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN		COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)	2	637	-			163			CBM21.		B3KTV3|Q9H812	Silent	SNP	ENST00000310455.3	37	c.487A>C	CCDS5973.1																																																																																				0.512	PPP1R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251472.1	NM_024607		80	84	0	0	0	1	0	80	84					G	8998675	T	G	8998675	2	3	253	1	0	0	0	0	0	0	0	1	12372	1608	56	5		5	PPP1R3B	8	8998675	Silent	SNP	T	TCGA-EL-A3ZR-01A-11D-A23M-08		8998675	137365347	5	5485											
BNC2	54796	broad.mit.edu	37	chr9	16436472	16436472	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctggagtgagtaaacttcTataaaatggaggaactggtt	11	6	1	1			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr9:16436472T>C	ENST00000380672.4	-	6	1777	c.1720A>G	c.(1720-1722)Aga>Gga	p.R574G	BNC2_ENST00000380666.2_Missense_Mutation_p.R574G|BNC2_ENST00000545497.1_Missense_Mutation_p.R479G|BNC2_ENST00000380667.2_Missense_Mutation_p.R507G	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		AGTAAACTTCTATAAAATGGA	0.507																																						ENST00000380672.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(1720-1722)Aga>Gga		basonuclin 2							48	54	52					9																	16436472		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16436472T>C	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"Zinc fingers, C2H2-type"	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1720A>G	9.37:g.16436472T>C	ENSP00000370047:p.Arg574Gly					BNC2_ENST00000380666.2_Missense_Mutation_p.R574G|BNC2_ENST00000545497.1_Missense_Mutation_p.R479G|BNC2_ENST00000380667.2_Missense_Mutation_p.R507G	p.R574G	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	1777	-			574			Pro-rich.			Missense_Mutation	SNP	ENST00000380672.4	37	c.1720A>G	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	T	13.62	2.290609	0.40494	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.51817	0.69;0.7;0.76;0.72;0.7	6.07	3.56	0.40772	.	0.000000	0.85682	D	0.000000	T	0.64034	0.2562	M	0.67397	2.05	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D	0.76494	0.999;0.998;0.989;0.998;0.999;0.981;0.998;0.998;0.998	D;D;D;D;D;D;D;D;D	0.78314	0.934;0.981;0.985;0.968;0.991;0.95;0.987;0.987;0.981	T	0.65701	-0.6104	10	0.49607	T	0.09	-12.2417	13.0682	0.59046	0.0:0.0:0.2286:0.7714	.	479;507;574;400;574;531;574;479;339	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	G	574;531;507;479;400;574;574	ENSP00000370047:R574G;ENSP00000408370:R531G;ENSP00000370042:R507G;ENSP00000444640:R479G;ENSP00000370041:R574G	ENSP00000370041:R574G	R	-	1	2	BNC2	16426472	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	2.438000	0.44837	2.326000	0.78906	0.533000	0.62120	AGA		0.507	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		30	62	0	0	0	1	0	30	62					C	16436472	T	C	16436472	3	2	253	1	0	0	0	0	1	0	0	0	1475	1530	53	3	1587	3	BNC2	9	16436472	Missense_Mutation	SNP	T	TCGA-EL-A3ZR-01A-11D-A23M-08		16436472	124776959	6	5486											
ABO	28	broad.mit.edu	37	chr9	136131223	136131223	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggctctcgtcgtgccacaCggcctcgatgccgttggcct	13	15	1	0			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr9:136131223C>T	ENST00000453660.2	-	0	905				RP11-430N14.4_ENST00000606717.1_RNA			P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation (GO:0006486)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosylgalactoside 3-alpha-galactosyltransferase activity (GO:0004381)|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity (GO:0004380)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		TCGTGCCACACGGCCTCGATG	0.662																																						ENST00000453660.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11								ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)							57	66	63					9																	136131223		2114	4227	6341			28				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr9:136131223C>T	AF134415		9q34.2	2014-07-19			ENSG00000175164	ENSG00000175164	2.4.1.40, 2.4.1.37	"Blood group antigens", "Glycosyltransferase family 6 domain containing"	79	protein-coding gene	gene with protein product		110300				184030	Standard	NM_020469		Approved	A3GALNT, A3GALT1	uc004cda.1	P16442	OTTHUMG00000020872		9.37:g.136131223C>T										P16442	BGAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)	0	905	-								B0JDB9|O14758|Q14490|Q53I57|Q6ISD4|Q6KFZ2|Q70V27|Q99484|Q99485|Q9NY01|Q9UQ68|Q9UQ69	RNA	SNP	ENST00000453660.2	37																																																																																						0.662	ABO-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000054907.4	NM_020469		18	75	0	0	0	1	0	18	75					T	136131223	C	T	136131223	1	4	253	0	1	0	0	0	0	0	0	0	97	536	19	1		1	ABO	9	136131223	RNA	SNP	C	TCGA-EL-A3ZR-01A-11D-A23M-08	119694751	136131223	5082208	7	5487											
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	14	13	0	0	rs121913233		TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117	102	107					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)				HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R	p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		80	71	0	0	0	1	0	80	71					C	533874	T	C	533874	3	2	253	1	0	0	0	0	1	0	0	0	7348	1580	55	3	466	3	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-EL-A3ZR-01A-11D-A23M-08		533874	134472642	8	5488											
MUC5B	727897	broad.mit.edu	37	chr11	1271213	1271213	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacctccacagtgctgaccaCgaaggccaccacgacaaggg	10	16	0	1	rs555257212		TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr11:1271213C>A	ENST00000529681.1	+	31	13161	c.13103C>A	c.(13102-13104)aCg>aAg	p.T4368K	MUC5B_ENST00000447027.1_Missense_Mutation_p.T4371K|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4368	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTGCTGACCACGAAGGCCACC	0.642																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(13111-13113)aCg>aAg		mucin 5B, oligomeric mucus/gel-forming							91	109	103					11																	1271213		2126	4219	6345	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1271213C>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13103C>A	11.37:g.1271213C>A	ENSP00000436812:p.Thr4368Lys					MUC5B_ENST00000529681.1_Missense_Mutation_p.T4368K	p.T4371K			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	13170	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4368			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.13112C>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	6.387	0.439594	0.12104	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000535652	T;T	0.24908	1.83;2.0	2.88	-3.33	0.04958	.	.	.	.	.	T	0.17704	0.0425	L	0.54323	1.7	0.09310	N	1	B;B	0.25351	0.124;0.124	B;B	0.18871	0.023;0.023	T	0.40289	-0.9571	9	0.87932	D	0	.	0.8629	0.01197	0.4016:0.2808:0.1641:0.1536	.	4841;4371	A7Y9J9;E9PBJ0	.;.	K	4368;4371;4312;4218;147	ENSP00000436812:T4368K;ENSP00000415793:T4371K	ENSP00000343037:T4312K	T	+	2	0	MUC5B	1227789	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.133000	0.10451	-0.130000	0.11599	0.184000	0.17185	ACG		0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		133	91	1	0	1.74062e-63	1	1.79501e-63	133	91					A	1271213	C	A	1271213	3	1	253	1	0	0	0	0	1	0	0	0	9979	536	19	4	13234	4	MUC5B	11	1271213	Missense_Mutation	SNP	C	TCGA-EL-A3ZR-01A-11D-A23M-08	737339	1271213	133735303	9	5489											
SMTNL1	219537	broad.mit.edu	37	chr11	57310279	57310279	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagtcaggaaagcaggaaaAggcaccagccgaggacggca	15	9	1	1			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr11:57310279A>G	ENST00000399154.2	+	1	164	c.164A>G	c.(163-165)aAg>aGg	p.K55R	SMTNL1_ENST00000457912.1_Missense_Mutation_p.K73R|SMTNL1_ENST00000527972.1_Missense_Mutation_p.K55R			A8MU46	SMTL1_HUMAN	smoothelin-like 1	55	Glu-rich.				negative regulation of vasodilation (GO:0045908)|positive regulation of vasoconstriction (GO:0045907)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						AAGCAGGAAAAGGCACCAGCC	0.567																																						ENST00000457912.1																			0				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						c.(217-219)aAg>aGg		smoothelin-like 1							47	53	51					11																	57310279		1998	4176	6174	SO:0001583	missense	219537							g.chr11:57310279A>G	BX116227		11q12.1	2006-02-02				ENSG00000214872			32394	protein-coding gene	gene with protein product	"calponin homology-associated smooth muscle protein"	613664				15327999	Standard	NM_001105565		Approved	CHASM	uc021qjh.1	A8MU46		ENST00000399154.2:c.164A>G	11.37:g.57310279A>G	ENSP00000382108:p.Lys55Arg					SMTNL1_ENST00000399154.2_Missense_Mutation_p.K55R|SMTNL1_ENST00000527972.1_Missense_Mutation_p.K55R	p.K73R			E9PPJ3	E9PPJ3_HUMAN			2	218	+			55						Missense_Mutation	SNP	ENST00000399154.2	37	c.218A>G		.	.	.	.	.	.	.	.	.	.	A	1.139	-0.650054	0.03506	.	.	ENSG00000214872	ENST00000457912;ENST00000527972;ENST00000399154	D;D;T	0.93712	-3.27;-3.25;4.23	5.05	-0.241	0.13043	.	1.298600	0.06333	N	0.706457	T	0.78155	0.4239	N	0.04203	-0.255	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.69881	-0.5025	10	0.02654	T	1	-2.0282	0.4087	0.00437	0.2972:0.1949:0.1258:0.3822	.	73	C9J621	.	R	73;55;55	ENSP00000406485:K73R;ENSP00000432651:K55R;ENSP00000382108:K55R	ENSP00000382108:K55R	K	+	2	0	SMTNL1	57066855	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	0.129000	0.15830	0.007000	0.14760	0.533000	0.62120	AAG		0.567	SMTNL1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_166203		3	35	0	0	0	1	0	3	35					G	57310279	A	G	57310279	3	3	253	1	0	0	0	0	1	0	0	0	14815	72	3	3	224	3	SMTNL1	11	57310279	Missense_Mutation	SNP	A	TCGA-EL-A3ZR-01A-11D-A23M-08	56039066	57310279	77696237	10	5490											
OR5B17	219965	broad.mit.edu	37	chr11	58126180	58126180	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggggttacacactgctgcGtagcggtcataggccattga	14	9	1	1	rs146597451		TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr11:58126180G>A	ENST00000357377.3	-	1	362	c.363C>T	c.(361-363)taC>taT	p.Y121Y		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ACACTGCTGCGTAGCGGTCAT	0.473																																						ENST00000357377.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(361-363)taC>taT		olfactory receptor, family 5, subfamily B, member 17		G		1,4401	2.1+/-5.4	0,1,2200	124	111	115		363	-7.2	0.0	11	dbSNP_134	115	0,8590		0,0,4295	no	coding-synonymous	OR5B17	NM_001005489.1		0,1,6495	AA,AG,GG		0.0,0.0227,0.0077		121/315	58126180	1,12991	2201	4295	6496	SO:0001819	synonymous_variant	219965				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58126180G>A	AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786		"GPCR / Class A : Olfactory receptors"	15267	protein-coding gene	gene with protein product				OR5B20P			Standard	NM_001005489		Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.363C>T	11.37:g.58126180G>A							p.Y121Y	NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN			1	362	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	121					Q6IEX1	Silent	SNP	ENST00000357377.3	37	c.363C>T	CCDS31548.1																																																																																				0.473	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394708.2	NM_001005489		19	74	0	0	0	1	0	19	74					A	58126180	G	A	58126180	2	1	253	1	0	0	0	0	0	0	0	1	11149	1140	40	1		1	OR5B17	11	58126180	Silent	SNP	G	TCGA-EL-A3ZR-01A-11D-A23M-08	815901	58126180	76880336	11	5491											
PLCB3	5331	broad.mit.edu	37	chr11	64028911	64028911	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgccactgaggagatgTccacgcttgtcaactacatc	9	11	1	3			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr11:64028911T>G	ENST00000540288.1	+	15	1874	c.1771T>G	c.(1771-1773)Tcc>Gcc	p.S591A	PLCB3_ENST00000325234.5_Missense_Mutation_p.S524A|PLCB3_ENST00000279230.6_Missense_Mutation_p.S591A	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	591	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				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						TGAGGAGATGTCCACGCTTGT	0.607																																						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.(1771-1773)Tcc>Gcc		phospholipase C, beta 3 (phosphatidylinositol-specific)							164	127	140					11																	64028911		2201	4297	6498	SO:0001583	missense	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64028911T>G	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.1771T>G	11.37:g.64028911T>G	ENSP00000443631:p.Ser591Ala					PLCB3_ENST00000279230.6_Missense_Mutation_p.S591A|PLCB3_ENST00000325234.5_Missense_Mutation_p.S524A	p.S591A	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN			15	1874	+			591			PI-PLC Y-box.		A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	37	c.1771T>G	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.417766	0.83449	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.70045	-0.45;-0.45;-0.45	4.75	4.75	0.60458	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.257208	0.39687	N	0.001281	T	0.81945	0.4930	M	0.83312	2.635	0.54753	D	0.999984	D;D	0.71674	0.994;0.998	D;D	0.91635	0.994;0.999	D	0.84226	0.0464	10	0.56958	D	0.05	.	13.2131	0.59836	0.0:0.0:0.0:1.0	.	524;591	G5E960;Q01970	.;PLCB3_HUMAN	A	591;591;524	ENSP00000279230:S591A;ENSP00000443631:S591A;ENSP00000324660:S524A	ENSP00000279230:S591A	S	+	1	0	PLCB3	63785487	1.000000	0.71417	0.989000	0.46669	0.835000	0.47333	7.914000	0.87478	1.778000	0.52293	0.254000	0.18369	TCC		0.607	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			11	120	0	0	0	1	0	11	120					G	64028911	T	G	64028911	3	3	253	1	0	0	0	0	1	0	0	0	12029	1667	58	5	1829	5	PLCB3	11	64028911	Missense_Mutation	SNP	T	TCGA-EL-A3ZR-01A-11D-A23M-08	5902731	64028911	70977605	12	5492											
RFXAP	5994	broad.mit.edu	37	chr13	37399626	37399626	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggatcttttggggatcgtcCtgcaagacctactcttttag	10	9	2	1			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr13:37399626C>A	ENST00000255476.2	+	2	796	c.662C>A	c.(661-663)cCt>cAt	p.P221H	RFXAP_ENST00000472888.1_3'UTR	NM_000538.3	NP_000529.1	O00287	RFXAP_HUMAN	regulatory factor X-associated protein	221	C-terminal domain.				positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)		GGGGATCGTCCTGCAAGACCT	0.308																																						ENST00000255476.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(661-663)cCt>cAt		regulatory factor X-associated protein							110	111	111					13																	37399626		2203	4300	6503	SO:0001583	missense	5994					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr13:37399626C>A	Y12812	CCDS9359.1	13q14	2014-09-17			ENSG00000133111	ENSG00000133111			9988	protein-coding gene	gene with protein product		601861				9118943	Standard	NM_000538		Approved		uc001uvu.1	O00287	OTTHUMG00000016738	ENST00000255476.2:c.662C>A	13.37:g.37399626C>A	ENSP00000255476:p.Pro221His					RFXAP_ENST00000472888.1_3'UTR	p.P221H	NM_000538.3	NP_000529.1	O00287	RFXAP_HUMAN		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)	2	796	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	221			C-terminal domain.		B2R9T8|Q5VZM6|Q8TC40	Missense_Mutation	SNP	ENST00000255476.2	37	c.662C>A	CCDS9359.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691762	0.88735	.	.	ENSG00000133111	ENST00000255476	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.78310	0.4263	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78861	-0.2037	9	0.72032	D	0.01	-7.4864	18.649	0.91423	0.0:1.0:0.0:0.0	.	221	O00287	RFXAP_HUMAN	H	221	.	ENSP00000255476:P221H	P	+	2	0	RFXAP	36297626	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.725000	0.74752	2.752000	0.94435	0.655000	0.94253	CCT		0.308	RFXAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044521.1	NM_000538		18	30	1	0	3.32936e-07	1	3.32936e-07	18	30					A	37399626	C	A	37399626	3	1	253	1	0	0	0	0	1	0	0	0	13270	681	24	4	668	4	RFXAP	13	37399626	Missense_Mutation	SNP	C	TCGA-EL-A3ZR-01A-11D-A23M-08		37399626	77770252	13	5493											
KBTBD7	84078	broad.mit.edu	37	chr13	41768119	41768119	+	Missense_Mutation	SNP	G	G	A													tgctcttgaagtagggacacGcagctgctagcacgttgcga							TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr13:41768119G>A	ENST00000379483.3	-	1	583	c.275C>T	c.(274-276)gCg>gTg	p.A92V		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	92	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GTAGGGACACGCAGCTGCTAG	0.617																																						ENST00000379483.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(274-276)gCg>gTg		kelch repeat and BTB (POZ) domain containing 7							89	60	70					13																	41768119		2203	4300	6503	SO:0001583	missense	84078						protein binding	g.chr13:41768119G>A	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"BTB/POZ domain containing"	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.275C>T	13.37:g.41768119G>A	ENSP00000368797:p.Ala92Val						p.A92V	NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	583	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	92			BTB.		B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	c.275C>T	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951354	0.73787	.	.	ENSG00000120696	ENST00000379483	T	0.68025	-0.3	4.79	4.79	0.61399	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	U	0.000000	T	0.66436	0.2789	N	0.17922	0.545	0.58432	D	0.999995	D	0.67145	0.996	P	0.60117	0.869	T	0.65660	-0.6114	10	0.31617	T	0.26	.	15.6538	0.77118	0.0:0.0:1.0:0.0	.	92	Q8WVZ9	KBTB7_HUMAN	V	92	ENSP00000368797:A92V	ENSP00000368797:A92V	A	-	2	0	KBTBD7	40666119	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	5.118000	0.64673	2.343000	0.79666	0.563000	0.77884	GCG		0.617	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		8	46	0	0	0	1	0	8	46					A	41768119	G	A	41768119	3	1	253	1	0	0	0	0	1	0	0	0	7998	1087	38	1	1783	1	KBTBD7	13	41768119	Missense_Mutation	SNP	G	TCGA-EL-A3ZR-01A-11D-A23M-08	4368493	41768119	73401759	14	5494	25	2									
KBTBD7	84078	broad.mit.edu	37	chr13	41768120	41768120	+	Missense_Mutation	SNP	C	C	G													gctcttgaagtagggacacgCagctgctagcacgttgcgat							TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr13:41768120C>G	ENST00000379483.3	-	1	582	c.274G>C	c.(274-276)Gcg>Ccg	p.A92P		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	92	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		TAGGGACACGCAGCTGCTAGC	0.617																																						ENST00000379483.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(274-276)Gcg>Ccg		kelch repeat and BTB (POZ) domain containing 7							89	60	70					13																	41768120		2203	4300	6503	SO:0001583	missense	84078						protein binding	g.chr13:41768120C>G	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"BTB/POZ domain containing"	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.274G>C	13.37:g.41768120C>G	ENSP00000368797:p.Ala92Pro						p.A92P	NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	582	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	92			BTB.		B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	c.274G>C	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.800552	0.70567	.	.	ENSG00000120696	ENST00000379483	T	0.68903	-0.36	4.79	4.79	0.61399	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	U	0.000000	D	0.83427	0.5252	M	0.88241	2.94	0.58432	D	0.999998	D	0.69078	0.997	D	0.68039	0.955	D	0.86991	0.2110	10	0.72032	D	0.01	.	15.6538	0.77118	0.0:1.0:0.0:0.0	.	92	Q8WVZ9	KBTB7_HUMAN	P	92	ENSP00000368797:A92P	ENSP00000368797:A92P	A	-	1	0	KBTBD7	40666120	1.000000	0.71417	0.996000	0.52242	0.939000	0.58152	4.493000	0.60341	2.343000	0.79666	0.563000	0.77884	GCG		0.617	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		8	47	0	0	0	1	0	8	47					G	41768120	C	G	41768120	3	3	253	1	0	0	0	0	1	0	0	0	7998	710	25	4	1784	4	KBTBD7	13	41768120	Missense_Mutation	SNP	C	TCGA-EL-A3ZR-01A-11D-A23M-08	1	41768120	73401758	15	5495	25	2									
CLDN10	9071	broad.mit.edu	37	chr13	96086195	96086195	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaccacgcgagcctcctcGgtgataacagccacttgggt	12	13	0	2	rs149372773		TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr13:96086195G>A	ENST00000376873.3	+	1	338	c.108G>A	c.(106-108)tcG>tcA	p.S36S		NM_001160100.1|NM_182848.3	NP_001153572.1|NP_878268.1	P78369	CLD10_HUMAN	claudin 10	38					calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|ion transport (GO:0006811)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			GAGCCTCCTCGGTGATAACAG	0.552													G|||	1	0.000199681	0	0	5008	,	,		17721	0		0.001	False		,,,				2504	0					ENST00000376873.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15						c.(106-108)tcG>tcA		claudin 10		G	,	2,4404	4.2+/-10.8	0,2,2201	117	102	107		108,108	-5.5	0.6	13	dbSNP_134	107	19,8581	13.3+/-46.6	0,19,4281	no	coding-synonymous,coding-synonymous	CLDN10	NM_001160100.1,NM_182848.3	,	0,21,6482	AA,AG,GG		0.2209,0.0454,0.1615	,	36/208,36/227	96086195	21,12985	2203	4300	6503	SO:0001819	synonymous_variant	9071				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr13:96086195G>A	U89916	CCDS9475.1, CCDS9476.1	13q31-q34	2008-07-18			ENSG00000134873	ENSG00000134873		"Claudins"	2033	protein-coding gene	gene with protein product						18025272	Standard	NM_182848		Approved	OSP-L, CPETRL3	uc001vmh.2	P78369	OTTHUMG00000017217	ENST00000376873.3:c.108G>A	13.37:g.96086195G>A							p.S36S	NM_001160100.1|NM_182848.3	NP_001153572.1|NP_878268.1	P78369	CLD10_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.18)		1	338	+	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		38					Q6IBF9|Q96N78	Silent	SNP	ENST00000376873.3	37	c.108G>A	CCDS9475.1																																																																																				0.552	CLDN10-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045483.3	NM_006984		4	71	0	0	0	1	0	4	71					A	96086195	G	A	96086195	2	1	253	1	0	0	0	0	0	0	0	1	3472	1103	39	1		1	CLDN10	13	96086195	Silent	SNP	G	TCGA-EL-A3ZR-01A-11D-A23M-08	54318075	96086195	19083683	16	5496											
LRP10	26020	broad.mit.edu	37	chr14	23345001	23345001	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggagacactgtctggcCaggctgttgtgtcctaccac	12	12	1	1			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr14:23345001C>T	ENST00000359591.4	+	5	1535	c.844C>T	c.(844-846)Cag>Tag	p.Q282*	LRP10_ENST00000546834.1_Nonsense_Mutation_p.Q282*	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	282	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		ACTGTCTGGCCAGGCTGTTGT	0.582																																						ENST00000359591.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32						c.(844-846)Cag>Tag		low density lipoprotein receptor-related protein 10							91	75	80					14																	23345001		2203	4300	6503	SO:0001587	stop_gained	26020				endocytosis	coated pit|integral to membrane		g.chr14:23345001C>T	AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"Low density lipoprotein receptors"	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.844C>T	14.37:g.23345001C>T	ENSP00000352601:p.Gln282*					LRP10_ENST00000546834.1_Nonsense_Mutation_p.Q282*	p.Q282*	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN		GBM - Glioblastoma multiforme(265;0.00549)	5	1535	+	all_cancers(95;4.69e-05)		282			CUB 2.		A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Nonsense_Mutation	SNP	ENST00000359591.4	37	c.844C>T	CCDS9578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.45|17.45	3.392060|3.392060	0.62066|0.62066	.|.	.|.	ENSG00000197324|ENSG00000197324	ENST00000551466|ENST00000359591;ENST00000546834	.|.	.|.	.|.	5.97|5.97	3.92|3.92	0.45320|0.45320	.|.	.|0.282045	.|0.36932	.|N	.|0.002329	T|.	0.66327|.	0.2778|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.74137|.	-0.3762|.	3|.	.|0.42905	.|T	.|0.14	-10.7722|-10.7722	14.5957|14.5957	0.68403|0.68403	0.3457:0.6543:0.0:0.0|0.3457:0.6543:0.0:0.0	.|.	.|.	.|.	.|.	L|X	183|282	.|.	.|ENSP00000352601:Q282X	P|Q	+|+	2|1	0|0	LRP10|LRP10	22414841|22414841	0.981000|0.981000	0.34729|0.34729	1.000000|1.000000	0.80357|0.80357	0.821000|0.821000	0.46438|0.46438	2.506000|2.506000	0.45433|0.45433	1.472000|1.472000	0.48140|0.48140	0.655000|0.655000	0.94253|0.94253	CCA|CAG		0.582	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			39	83	0	0	0	1	0	39	83					T	23345001	C	T	23345001	4	4	253	1	0	0	0	0	0	1	0	0	8952	595	21	2	862	2	LRP10	14	23345001	Nonsense_Mutation	SNP	C	TCGA-EL-A3ZR-01A-11D-A23M-08		23345001	84004539	17	5497											
NLRP4	147945	broad.mit.edu	37	chr19	56373475	56373475	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctctcgtgatgacatcagGtccctctgtgatgccttgaa	9	12	3	4			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr19:56373475G>A	ENST00000301295.6	+	5	2558	c.2136G>A	c.(2134-2136)agG>agA	p.R712R	NLRP4_ENST00000346986.5_Silent_p.R712R|NLRP4_ENST00000587891.1_Silent_p.R637R	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	712					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ATGACATCAGGTCCCTCTGTG	0.473																																						ENST00000301295.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(2134-2136)agG>agA		NLR family, pyrin domain containing 4							141	124	130					19																	56373475		2203	4300	6503	SO:0001819	synonymous_variant	147945						ATP binding	g.chr19:56373475G>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2136G>A	19.37:g.56373475G>A						NLRP4_ENST00000346986.5_Silent_p.R712R|NLRP4_ENST00000587891.1_Silent_p.R637R	p.R712R	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	5	2558	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	712					Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	c.2136G>A	CCDS12936.1																																																																																				0.473	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		5	89	0	0	0	1	0	5	89					A	56373475	G	A	56373475	2	1	253	1	0	0	0	0	0	0	0	1	10479	1252	44	2		2	NLRP4	19	56373475	Silent	SNP	G	TCGA-EL-A3ZR-01A-11D-A23M-08		56373475	2755508	18	5498											
RTDR1	27156	broad.mit.edu	37	chr22	23401754	23401754	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacggaaagtgggcacgtgCgtctgcagggccttgcggcc	17	12	1	0	rs533095411		TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr22:23401754C>T	ENST00000216036.4	-	7	1129	c.933G>A	c.(931-933)acG>acA	p.T311T		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		311										breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		TGGGCACGTGCGTCTGCAGGG	0.637													C|||	1	0.000199681	8e-04	0	5008	,	,		17703	0		0	False		,,,				2504	0					ENST00000216036.4																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18						c.(931-933)acG>acA		rhabdoid tumor deletion region gene 1							97	94	95					22																	23401754		2203	4300	6503	SO:0001819	synonymous_variant	27156						binding	g.chr22:23401754C>T																												ENST00000216036.4:c.933G>A	22.37:g.23401754C>T							p.T311T	NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		READ - Rectum adenocarcinoma(21;0.175)	7	1129	-	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		311						Silent	SNP	ENST00000216036.4	37	c.933G>A	CCDS13803.1																																																																																				0.637	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319049.1			40	140	0	0	0	1	0	40	140					T	23401754	C	T	23401754	2	4	253	1	0	0	0	0	0	0	0	1	13719	755	27	1		1	RTDR1	22	23401754	Silent	SNP	C	TCGA-EL-A3ZR-01A-11D-A23M-08		23401754	27902812	19	5499											
MAP3K15	389840	broad.mit.edu	37	chrX	19389610	19389610	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaggatcccaatgatttgCttgatgtgtccaactgagag	10	9	1	3			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chrX:19389610C>T	ENST00000338883.4	-	23	3146	c.3147G>A	c.(3145-3147)aaG>aaA	p.K1049K	MAP3K15_ENST00000359173.3_Silent_p.K484K|MAP3K15_ENST00000469203.2_Silent_p.K881K|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1049							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CAATGATTTGCTTGATGTGTC	0.478																																						ENST00000338883.4																			0				NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(3145-3147)aaG>aaA		mitogen-activated protein kinase kinase kinase 15							121	95	104					X																	19389610		2203	4300	6503	SO:0001819	synonymous_variant	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19389610C>T	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.3147G>A	X.37:g.19389610C>T						MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Silent_p.K881K|MAP3K15_ENST00000359173.3_Silent_p.K484K	p.K1049K	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN			23	3146	-	Hepatocellular(33;0.183)		1049					A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Silent	SNP	ENST00000338883.4	37	c.3147G>A																																																																																					0.478	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		42	59	0	0	0	1	0	42	59					T	19389610	C	T	19389610	2	4	253	1	0	0	0	0	0	0	0	1	9249	796	28	2		2	MAP3K15	23	19389610	Silent	SNP	C	TCGA-EL-A3ZR-01A-11D-A23M-08		19389610	135880950	20	5500											
PCDH11X	27328	broad.mit.edu	37	chrX	91090988	91090988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctaaatatactctcccagCggctgttgatcctgacgtag	8	12	2	2			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chrX:91090988C>T	ENST00000373094.1	+	1	1330	c.485C>T	c.(484-486)gCg>gTg	p.A162V	PCDH11X_ENST00000361724.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A162V|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000504220.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A162V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	162	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACTCTCCCAGCGGCTGTTGAT	0.343																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(484-486)gCg>gTg		protocadherin 11 X-linked							36	37	37					X																	91090988		2200	4298	6498	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090988C>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.485C>T	X.37:g.91090988C>T	ENSP00000362186:p.Ala162Val					PCDH11X_ENST00000361724.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000504220.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A162V|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A162V	p.A162V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			1	1330	+			162			Cadherin 2.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.485C>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.575181	0.28092	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6	4.44	3.54	0.40534	Cadherin (4);Cadherin-like (1);	0.138116	0.49916	D	0.000122	T	0.29190	0.0726	N	0.11651	0.15	0.35926	D	0.832189	B;B;P;P;P;P;B;B	0.37101	0.083;0.191;0.526;0.526;0.526;0.582;0.047;0.047	B;B;B;B;B;B;B;B	0.31442	0.018;0.036;0.08;0.08;0.08;0.13;0.019;0.019	T	0.31503	-0.9941	10	0.25106	T	0.35	.	12.5927	0.56451	0.0:0.836:0.164:0.0	.	162;162;162;162;162;162;162;162	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	V	162	ENSP00000378746:A162V;ENSP00000362186:A162V;ENSP00000362189:A162V;ENSP00000355040:A162V;ENSP00000362180:A162V;ENSP00000423762:A162V;ENSP00000355105:A162V;ENSP00000384758:A162V;ENSP00000298274:A162V	ENSP00000298274:A162V	A	+	2	0	PCDH11X	90977644	0.999000	0.42202	0.953000	0.39169	0.537000	0.34900	4.217000	0.58547	0.938000	0.37419	0.506000	0.49869	GCG		0.343	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		5	52	0	0	0	1	0	5	52					T	91090988	C	T	91090988	3	4	253	1	0	0	0	0	1	0	0	0	11508	768	27	1	487	1	PCDH11X	23	91090988	Missense_Mutation	SNP	C	TCGA-EL-A3ZR-01A-11D-A23M-08	71701378	91090988	64179572	21	5501											
ANKRD45	339416	broad.mit.edu	37	chr1	173596291	173596291	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atatattttttcagagtcagCcttgcatctgaaagaatgga	8	6	3	3	rs551995436		TCGA-EL-A3ZS-01A-12D-A23M-08	TCGA-EL-A3ZS-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91019ef-9b12-40b6-bb84-8693ba5b2300	91cf9886-bdae-4fa5-b416-19840973079d	g.chr1:173596291C>A	ENST00000333279.2	-	4	564	c.504G>T	c.(502-504)agG>agT	p.R168S		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	184										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						TCAGAGTCAGCCTTGCATCTG	0.428																																						ENST00000333279.2																			0				NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						c.(502-504)agG>agT		ankyrin repeat domain 45							106	107	107					1																	173596291		2203	4300	6503	SO:0001583	missense	339416							g.chr1:173596291C>A		CCDS1309.1	1q25.1	2013-01-10			ENSG00000183831	ENSG00000183831		"Ankyrin repeat domain containing"	24786	protein-coding gene	gene with protein product	"cancer/testis antigen 117"						Standard	NM_198493		Approved	FLJ45235, CT117	uc001gja.1	Q5TZF3	OTTHUMG00000040546	ENST00000333279.2:c.504G>T	1.37:g.173596291C>A	ENSP00000331268:p.Arg168Ser						p.R168S	NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN			4	564	-			184					A1A4G2|Q6ZST1	Missense_Mutation	SNP	ENST00000333279.2	37	c.504G>T	CCDS1309.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.685940	0.47991	.	.	ENSG00000183831	ENST00000333279	T	0.50813	0.73	5.35	-1.54	0.08584	Ankyrin repeat-containing domain (3);	0.058021	0.64402	D	0.000007	T	0.34542	0.0901	M	0.72353	2.195	0.33685	D	0.612664	D	0.57257	0.979	P	0.54270	0.747	T	0.15665	-1.0429	10	0.41790	T	0.15	-9.773	3.6897	0.08341	0.1069:0.4916:0.1054:0.2961	.	184	Q5TZF3	ANR45_HUMAN	S	168	ENSP00000331268:R168S	ENSP00000331268:R168S	R	-	3	2	ANKRD45	171862914	0.486000	0.25980	0.976000	0.42696	0.646000	0.38490	-0.356000	0.07661	-0.194000	0.10399	-1.151000	0.01829	AGG		0.428	ANKRD45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097580.2	NM_198493		4	66	1	0	0.000602214	1	0.000662436	4	66					A	173596291	C	A	173596291	3	1	254	1	0	0	0	0	1	0	0	0	673	738	26	4	308	4	ANKRD45	1	173596291	Missense_Mutation	SNP	C	TCGA-EL-A3ZS-01A-12D-A23M-08		173596291	75654330	1	5502											
TTN	7273	broad.mit.edu	37	chr2	179428462	179428462	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggacctggtggcttataaGgattacaggccgtaacaggc	14	8	0	0			TCGA-EL-A3ZS-01A-12D-A23M-08	TCGA-EL-A3ZS-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91019ef-9b12-40b6-bb84-8693ba5b2300	91cf9886-bdae-4fa5-b416-19840973079d	g.chr2:179428462G>T	ENST00000591111.1	-	276	77698	c.77474C>A	c.(77473-77475)cCt>cAt	p.P25825H	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P24898H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P18593H|TTN_ENST00000460472.2_Missense_Mutation_p.P18401H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P18526H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P27466H|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25825	Fibronectin type-III 87. {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)			TGGCTTATAAGGATTACAGGC	0.478																																						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.(82396-82398)cCt>cAt		titin							108	103	105					2																	179428462		1921	4141	6062	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179428462G>T	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.77474C>A	2.37:g.179428462G>T	ENSP00000465570:p.Pro25825His					TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P18526H|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P24898H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P25825H|TTN_ENST00000460472.2_Missense_Mutation_p.P18401H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P18593H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.P27466H	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	82621	-			25825					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.82397C>A		.	.	.	.	.	.	.	.	.	.	G	13.81	2.349369	0.41599	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68479	-0.33;-0.15;-0.16;-0.17	5.97	5.97	0.96955	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.89015	0.6595	H	0.96833	3.89	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.91656	0.5338	9	0.87932	D	0	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	18401;18526;18593;25825	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	24898;18401;18593;18526;18399	ENSP00000343764:P24898H;ENSP00000434586:P18401H;ENSP00000340554:P18593H;ENSP00000352154:P18526H	ENSP00000340554:P18593H	P	-	2	0	TTN	179136708	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.807000	0.99171	2.836000	0.97738	0.655000	0.94253	CCT		0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	95	1	0	0.00198382	1	0.00207829	7	95					T	179428462	G	T	179428462	3	4	254	1	0	0	0	0	1	0	0	0	16732	1000	35	4	25730	4	TTN	2	179428462	Missense_Mutation	SNP	G	TCGA-EL-A3ZS-01A-12D-A23M-08		179428462	63770911	2	5503											
TTN	7273	broad.mit.edu	37	chr2	179449515	179449515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagctttccaaccctgcagGaagtttttgtgactgaagct	9	10	1	2			TCGA-EL-A3ZS-01A-12D-A23M-08	TCGA-EL-A3ZS-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91019ef-9b12-40b6-bb84-8693ba5b2300	91cf9886-bdae-4fa5-b416-19840973079d	g.chr2:179449515G>A	ENST00000591111.1	-	260	60154	c.59930C>T	c.(59929-59931)tCc>tTc	p.S19977F	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S19050F|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S12745F|TTN_ENST00000460472.2_Missense_Mutation_p.S12553F|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S12678F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S21618F|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19977	Fibronectin type-III 44. {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)			AACCCTGCAGGAAGTTTTTGT	0.507																																						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.(64852-64854)tCc>tTc		titin							177	177	177					2																	179449515		1944	4136	6080	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179449515G>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.59930C>T	2.37:g.179449515G>A	ENSP00000465570:p.Ser19977Phe					TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S12678F|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S19050F|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S19977F|TTN_ENST00000460472.2_Missense_Mutation_p.S12553F|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S12745F|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.S21618F	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)		310	65077	-			19977			Fibronectin type-III 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.64853C>T		.	.	.	.	.	.	.	.	.	.	G	16.60	3.169586	0.57584	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60299	0.2;0.2;0.2;0.2	6.03	6.03	0.97812	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72938	0.3523	M	0.73598	2.24	0.44862	D	0.99787	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.69479	0.964;0.964;0.964;0.964	T	0.75306	-0.3364	9	0.87932	D	0	.	10.7657	0.46292	0.0:0.2318:0.6446:0.1236	.	12553;12678;12745;19977	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	19050;12553;12745;12678;12551	ENSP00000343764:S19050F;ENSP00000434586:S12553F;ENSP00000340554:S12745F;ENSP00000352154:S12678F	ENSP00000340554:S12745F	S	-	2	0	TTN	179157761	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.643000	0.46604	2.861000	0.98227	0.655000	0.94253	TCC		0.507	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	254	0	0	0	1	0	13	254					A	179449515	G	A	179449515	3	1	254	1	0	0	0	0	1	0	0	0	16732	1174	41	2	43338	2	TTN	2	179449515	Missense_Mutation	SNP	G	TCGA-EL-A3ZS-01A-12D-A23M-08	21053	179449515	63749858	3	5504											
FYCO1	79443	broad.mit.edu	37	chr3	46009639	46009639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcctgcatctcctgggccGcatcactgggaataggttct	11	13	3	0			TCGA-EL-A3ZS-01A-12D-A23M-08	TCGA-EL-A3ZS-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91019ef-9b12-40b6-bb84-8693ba5b2300	91cf9886-bdae-4fa5-b416-19840973079d	g.chr3:46009639G>A	ENST00000296137.2	-	8	1392	c.1187C>T	c.(1186-1188)gCg>gTg	p.A396V	FYCO1_ENST00000535325.1_Missense_Mutation_p.A396V	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	396					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTCCTGGGCCGCATCACTGGG	0.567																																						ENST00000296137.2																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(1186-1188)gCg>gTg		FYVE and coiled-coil domain containing 1							164	166	166					3																	46009639		2203	4300	6503	SO:0001583	missense	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46009639G>A	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"Zinc fingers, FYVE domain containing"	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.1187C>T	3.37:g.46009639G>A	ENSP00000296137:p.Ala396Val					FYCO1_ENST00000535325.1_Missense_Mutation_p.A396V	p.A396V	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	8	1392	-			396					B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	c.1187C>T	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	G	3.099	-0.185135	0.06340	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.21191	2.02;2.03	4.72	3.29	0.37713	.	0.235442	0.37136	N	0.002234	T	0.09024	0.0223	N	0.03608	-0.345	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.25363	-1.0134	10	0.38643	T	0.18	-0.0765	9.3123	0.37912	0.1481:0.0:0.8519:0.0	.	396;396	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	V	396	ENSP00000296137:A396V;ENSP00000441178:A396V	ENSP00000296137:A396V	A	-	2	0	FYCO1	45984643	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	1.032000	0.30178	0.815000	0.34398	0.655000	0.94253	GCG		0.567	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		5	260	0	0	0	1	0	5	260					A	46009639	G	A	46009639	3	1	254	1	0	0	0	0	1	0	0	0	6125	1087	38	1	3293	1	FYCO1	3	46009639	Missense_Mutation	SNP	G	TCGA-EL-A3ZS-01A-12D-A23M-08		46009639	152012791	4	5505											
KCTD9	54793	broad.mit.edu	37	chr8	25296836	25296836	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttacaatgagctgtccatgaCgcaagtagttcaaaatgggt	10	7	1	2			TCGA-EL-A3ZS-01A-12D-A23M-08	TCGA-EL-A3ZS-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91019ef-9b12-40b6-bb84-8693ba5b2300	91cf9886-bdae-4fa5-b416-19840973079d	g.chr8:25296836C>G	ENST00000221200.4	-	6	678	c.458G>C	c.(457-459)cGt>cCt	p.R153P	KCTD9_ENST00000518067.1_5'Flank	NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN	potassium channel tetramerization domain containing 9	153	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein homooligomerization (GO:0051260)					breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		CTGTCCATGACGCAAGTAGTT	0.353																																						ENST00000221200.4																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12						c.(457-459)cGt>cCt		potassium channel tetramerization domain containing 9							42	40	41					8																	25296836		2203	4300	6503	SO:0001583	missense	54793					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:25296836C>G	BC021216	CCDS6048.1	8p21.1	2013-06-20	2013-06-20		ENSG00000104756	ENSG00000104756		"BTB/POZ domain containing"	22401	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 9"			11483580	Standard	NM_017634		Approved	FLJ20038, BTBD27	uc003xeo.3	Q7L273	OTTHUMG00000099428	ENST00000221200.4:c.458G>C	8.37:g.25296836C>G	ENSP00000221200:p.Arg153Pro						p.R153P	NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)	6	678	-		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)	153			BTB.		Q6NUM8|Q9NXV4	Missense_Mutation	SNP	ENST00000221200.4	37	c.458G>C	CCDS6048.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.843366	0.91197	.	.	ENSG00000104756	ENST00000221200	T	0.55760	0.5	5.61	5.61	0.85477	BTB/POZ-like (2);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.64402	U	0.000001	D	0.85788	0.5778	H	0.99425	4.56	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	D	0.91610	0.5302	10	0.87932	D	0	.	20.0086	0.97443	0.0:1.0:0.0:0.0	.	153	Q7L273	KCTD9_HUMAN	P	153	ENSP00000221200:R153P	ENSP00000221200:R153P	R	-	2	0	KCTD9	25352753	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.808000	0.96608	0.655000	0.94253	CGT		0.353	KCTD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216890.1	NM_017634		4	24	0	0	0	1	0	4	24					G	25296836	C	G	25296836	3	3	254	1	0	0	0	0	1	0	0	0	8116	536	19	4	739	4	KCTD9	8	25296836	Missense_Mutation	SNP	C	TCGA-EL-A3ZS-01A-12D-A23M-08		25296836	121067186	5	5506											
PRMT8	56341	broad.mit.edu	37	chr12	3649791	3649791	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaacagccccccctcccAgcccccccagcccgtcgtcc	8	24	0	1			TCGA-EL-A3ZS-01A-12D-A23M-08	TCGA-EL-A3ZS-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91019ef-9b12-40b6-bb84-8693ba5b2300	91cf9886-bdae-4fa5-b416-19840973079d	g.chr12:3649791A>C	ENST00000382622.3	+	2	485	c.95A>C	c.(94-96)cAg>cCg	p.Q32P	PRMT8_ENST00000452611.2_Missense_Mutation_p.Q23P|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	32					histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CCCCCCTCCCAGCCCCCCCAG	0.652																																						ENST00000382622.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37						c.(94-96)cAg>cCg		protein arginine methyltransferase 8							47	56	53					12																	3649791		2200	4300	6500	SO:0001583	missense	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3649791A>C	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"Protein arginine methyltransferases"	5188	protein-coding gene	gene with protein product		610086	"HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)", "HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.95A>C	12.37:g.3649791A>C	ENSP00000372067:p.Gln32Pro					PRMT8_ENST00000452611.2_Missense_Mutation_p.Q23P|PRMT8_ENST00000261252.4_3'UTR	p.Q32P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		2	485	+			32					B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	c.95A>C	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	A	13.47	2.246943	0.39697	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.28454	1.74;1.61	5.52	4.31	0.51392	.	0.132959	0.52532	D	0.000078	T	0.24586	0.0596	L	0.43152	1.355	0.58432	D	0.999996	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.04991	-1.0913	10	0.28530	T	0.3	.	10.4061	0.44258	0.8361:0.1639:0.0:0.0	.	23;32	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	P	23;32	ENSP00000414507:Q23P;ENSP00000372067:Q32P	ENSP00000372067:Q32P	Q	+	2	0	PRMT8	3520052	0.998000	0.40836	0.994000	0.49952	0.869000	0.49853	4.424000	0.59868	2.101000	0.63845	0.460000	0.39030	CAG		0.652	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		10	88	0	0	0	1	0	10	88					C	3649791	A	C	3649791	3	2	254	1	0	0	0	0	1	0	0	0	12542	188	7	5	101	5	PRMT8	12	3649791	Missense_Mutation	SNP	A	TCGA-EL-A3ZS-01A-12D-A23M-08		3649791	130202104	6	5507											
ATN1	1822	broad.mit.edu	37	chr12	7045127	7045127	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagttttgtctggacccccaAtgggtcccaaggggggaggg	17	9	1	0	rs149811742		TCGA-EL-A3ZS-01A-12D-A23M-08	TCGA-EL-A3ZS-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91019ef-9b12-40b6-bb84-8693ba5b2300	91cf9886-bdae-4fa5-b416-19840973079d	g.chr12:7045127A>G	ENST00000356654.4	+	5	934	c.697A>G	c.(697-699)Atg>Gtg	p.M233V	ATN1_ENST00000396684.2_Missense_Mutation_p.M233V	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	233					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						TGGACCCCCAATGGGTCCCAA	0.637													a|||	1	0.000199681	8e-04	0	5008	,	,		-128	0		0	False		,,,				2504	0					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.(697-699)Atg>Gtg		atrophin 1		A	VAL/MET,VAL/MET	3,4361		0,3,2179	17	19	19		697,697	-6.8	0.2	12	dbSNP_134	19	1,8571		0,1,4285	yes	missense,missense	ATN1	NM_001007026.1,NM_001940.3	21,21	0,4,6464	GG,GA,AA		0.0117,0.0687,0.0309	benign,benign	233/1191,233/1191	7045127	4,12932	2182	4286	6468	SO:0001583	missense	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7045127A>G	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.697A>G	12.37:g.7045127A>G	ENSP00000349076:p.Met233Val					ATN1_ENST00000396684.2_Missense_Mutation_p.M233V	p.M233V	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN			5	934	+			233					Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	c.697A>G	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	-	0.005	-2.218854	0.00286	6.87E-4	1.17E-4	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325	T;T;T	0.53206	0.63;0.63;0.63	3.83	-6.76	0.01732	.	1.671270	0.03988	U	0.294363	T	0.17450	0.0419	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.06607	-1.0817	10	0.28530	T	0.3	.	0.3218	0.00304	0.2206:0.2924:0.1994:0.2876	.	233;233	Q86V38;P54259	.;ATN1_HUMAN	V	233	ENSP00000349076:M233V;ENSP00000379915:M233V;ENSP00000441744:M233V	ENSP00000349076:M233V	M	+	1	0	ATN1	6915388	0.002000	0.14202	0.209000	0.23619	0.031000	0.12232	-0.483000	0.06536	-0.926000	0.03770	-0.369000	0.07265	ATG		0.637	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		11	32	0	0	0	1	0	11	32					G	7045127	A	G	7045127	3	3	254	1	0	0	0	0	1	0	0	0	1111	101	4	3	711	3	ATN1	12	7045127	Missense_Mutation	SNP	A	TCGA-EL-A3ZS-01A-12D-A23M-08	3395336	7045127	126806768	7	5508											
C1QL4	338761	broad.mit.edu	37	chr12	49730112	49730112	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcgcctggcgggaaggggGgcacggaagcaggcgcgccg	22	11	0	0			TCGA-EL-A3ZS-01A-12D-A23M-08	TCGA-EL-A3ZS-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91019ef-9b12-40b6-bb84-8693ba5b2300	91cf9886-bdae-4fa5-b416-19840973079d	g.chr12:49730112G>T	ENST00000334221.3	-	1	859	c.149C>A	c.(148-150)cCc>cAc	p.P50H		NM_001008223.1	NP_001008224.1	Q86Z23	C1QL4_HUMAN	complement component 1, q subcomponent-like 4	50						collagen trimer (GO:0005581)|extracellular region (GO:0005576)				large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						CGGGAAGGGGGGCACGGAAGC	0.751																																						ENST00000334221.3																			0				large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						c.(148-150)cCc>cAc		complement component 1, q subcomponent-like 4							3	3	3					12																	49730112		1574	3153	4727	SO:0001583	missense	338761					collagen		g.chr12:49730112G>T		CCDS31793.1	12q13.12	2012-04-12				ENSG00000186897			31416	protein-coding gene	gene with protein product		615229					Standard	NM_001008223		Approved	C1QTNF11, CTRP11	uc001rtz.1	Q86Z23	OTTHUMG00000169515	ENST00000334221.3:c.149C>A	12.37:g.49730112G>T	ENSP00000335285:p.Pro50His						p.P50H	NM_001008223.1	NP_001008224.1	Q86Z23	C1QL4_HUMAN			1	859	-			50						Missense_Mutation	SNP	ENST00000334221.3	37	c.149C>A	CCDS31793.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191706	0.78902	.	.	ENSG00000186897	ENST00000334221	D	0.98701	-5.08	4.31	4.31	0.51392	.	0.089442	0.42964	D	0.000633	D	0.97570	0.9204	L	0.55990	1.75	0.51482	D	0.999928	P	0.38565	0.637	B	0.43990	0.438	D	0.97538	1.0084	10	0.24483	T	0.36	.	15.556	0.76192	0.0:0.0:1.0:0.0	.	50	Q86Z23	C1QL4_HUMAN	H	50	ENSP00000335285:P50H	ENSP00000335285:P50H	P	-	2	0	C1QL4	48016379	1.000000	0.71417	0.980000	0.43619	0.801000	0.45260	9.111000	0.94308	1.939000	0.56221	0.561000	0.74099	CCC		0.751	C1QL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404561.1	NM_001008223		4	7	1	0	0.150653	1	0.150653	4	7					T	49730112	G	T	49730112	3	4	254	1	0	0	0	0	1	0	0	0	1961	1232	43	4	575	4	C1QL4	12	49730112	Missense_Mutation	SNP	G	TCGA-EL-A3ZS-01A-12D-A23M-08	42684985	49730112	84121783	8	5509											
MYH7	4625	broad.mit.edu	37	chr14	23898270	23898270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccatccagttgaacatcCtctcatacactgccttggcc	5	16	2	1			TCGA-EL-A3ZS-01A-12D-A23M-08	TCGA-EL-A3ZS-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91019ef-9b12-40b6-bb84-8693ba5b2300	91cf9886-bdae-4fa5-b416-19840973079d	g.chr14:23898270C>T	ENST00000355349.3	-	14	1463	c.1301G>A	c.(1300-1302)aGg>aAg	p.R434K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	434	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|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)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTTGAACATCCTCTCATACAC	0.542																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(1300-1302)aGg>aAg		myosin, heavy chain 7, cardiac muscle, beta							144	127	133					14																	23898270		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23898270C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.1301G>A	14.37:g.23898270C>T	ENSP00000347507:p.Arg434Lys						p.R434K	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	14	1463	-	all_cancers(95;2.54e-05)		434			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.1301G>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	c	1.349	-0.591893	0.03799	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.88664	-2.41	4.18	-2.61	0.06171	Myosin head, motor domain (2);	.	.	.	.	T	0.78419	0.4280	N	0.25825	0.765	0.21782	N	0.999541	B	0.02656	0.0	B	0.01281	0.0	T	0.59440	-0.7454	9	0.10902	T	0.67	.	11.4013	0.49873	0.0:0.3619:0.0:0.6381	.	434	P12883	MYH7_HUMAN	K	434	ENSP00000347507:R434K	ENSP00000347507:R434K	R	-	2	0	MYH7	22968110	0.983000	0.35010	0.980000	0.43619	0.520000	0.34377	0.109000	0.15417	-0.725000	0.04901	-1.662000	0.00750	AGG		0.542	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		5	122	0	0	0	1	0	5	122					T	23898270	C	T	23898270	3	4	254	1	0	0	0	0	1	0	0	0	10039	681	24	2	4614	2	MYH7	14	23898270	Missense_Mutation	SNP	C	TCGA-EL-A3ZS-01A-12D-A23M-08		23898270	83451270	9	5510											
CCNK	8812	broad.mit.edu	37	chr14	99976639	99976639	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccgctgccacaccggcccccGcccccacccccctccagcta	6	27	0	0			TCGA-EL-A3ZS-01A-12D-A23M-08	TCGA-EL-A3ZS-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91019ef-9b12-40b6-bb84-8693ba5b2300	91cf9886-bdae-4fa5-b416-19840973079d	g.chr14:99976639G>C	ENST00000389879.5	+	11	1386	c.1263G>C	c.(1261-1263)ccG>ccC	p.P421P	CCNK_ENST00000555049.1_Intron|RP11-688G15.3_ENST00000557733.1_RNA	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	421					cellular response to DNA damage stimulus (GO:0006974)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of cell cycle arrest (GO:0071157)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cyclin K-CDK12 complex (GO:0002944)|cyclin K-CDK13 complex (GO:0002945)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				ACCGGCCCCCGCCCCCACCCC	0.682																																						ENST00000389879.5																			0				NS(1)|endometrium(2)|lung(3)	6						c.(1261-1263)ccG>ccC		cyclin K							12	13	12					14																	99976639		1794	4045	5839	SO:0001819	synonymous_variant	8812				cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding	g.chr14:99976639G>C	AF060515	CCDS45160.1	14q32.2	2014-07-03			ENSG00000090061	ENSG00000090061			1596	protein-coding gene	gene with protein product		603544				9632813, 10574912	Standard	NM_001099402		Approved	CPR4	uc001ygi.4	O75909	OTTHUMG00000171495	ENST00000389879.5:c.1263G>C	14.37:g.99976639G>C						CCNK_ENST00000555049.1_Intron	p.P421P	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN			11	1386	+		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)	421					Q59FT6|Q86U16|Q96B63|Q9NNY9	Silent	SNP	ENST00000389879.5	37	c.1263G>C	CCDS45160.1																																																																																				0.682	CCNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413721.1			4	10	0	0	0	1	0	4	10					C	99976639	G	C	99976639	2	2	254	1	0	0	0	0	0	0	0	1	2930	1074	38	4		4	CCNK	14	99976639	Silent	SNP	G	TCGA-EL-A3ZS-01A-12D-A23M-08	76078369	99976639	7372901	10	5511											
CYB5D1	124637	broad.mit.edu	37	chr17	7761479	7761479	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccggggcctggtggctggGccagacttggagtattttca	16	10	1	1			TCGA-EL-A3ZS-01A-12D-A23M-08	TCGA-EL-A3ZS-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91019ef-9b12-40b6-bb84-8693ba5b2300	91cf9886-bdae-4fa5-b416-19840973079d	g.chr17:7761479G>A	ENST00000332439.4	+	1	179	c.27G>A	c.(25-27)ggG>ggA	p.G9G	LSMD1_ENST00000575771.1_5'Flank|LSMD1_ENST00000570555.1_Intron|LSMD1_ENST00000576384.1_5'Flank|CYB5D1_ENST00000570446.1_Silent_p.G9G|CYB5D1_ENST00000571846.1_Silent_p.G9G|LSMD1_ENST00000335155.5_5'Flank|LSMD1_ENST00000576861.1_Intron|LSMD1_ENST00000333775.5_5'Flank|LSMD1_ENST00000575071.1_5'Flank|LSMD1_ENST00000575208.1_5'Flank	NM_144607.4	NP_653208.2	Q6P9G0	CB5D1_HUMAN	cytochrome b5 domain containing 1	9							heme binding (GO:0020037)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(2)|skin(2)	6		all_cancers(10;0.11)|Prostate(122;0.219)				TGGTGGCTGGGCCAGACTTGG	0.582																																						ENST00000332439.4																			0				breast(1)|endometrium(1)|large_intestine(2)|skin(2)	6						c.(25-27)ggG>ggA		cytochrome b5 domain containing 1							75	82	79					17																	7761479		2203	4300	6503	SO:0001819	synonymous_variant	124637						heme binding	g.chr17:7761479G>A	AK057061	CCDS11123.1	17p13.1	2006-01-12	2006-01-12						26516	protein-coding gene	gene with protein product						12477932	Standard	NM_144607		Approved	FLJ32499	uc002gjb.4	Q6P9G0		ENST00000332439.4:c.27G>A	17.37:g.7761479G>A						LSMD1_ENST00000576861.1_Intron|CYB5D1_ENST00000570446.1_Silent_p.G9G|LSMD1_ENST00000570555.1_Intron|CYB5D1_ENST00000571846.1_Silent_p.G9G	p.G9G	NM_144607.4	NP_653208.2	Q6P9G0	CB5D1_HUMAN			1	179	+		all_cancers(10;0.11)|Prostate(122;0.219)	9					D3DTQ8|Q96DM7	Silent	SNP	ENST00000332439.4	37	c.27G>A	CCDS11123.1																																																																																				0.582	CYB5D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440841.1	NM_144607		4	140	0	0	0	1	0	4	140					A	7761479	G	A	7761479	2	1	254	1	0	0	0	0	0	0	0	1	4124	1190	42	2		2	CYB5D1	17	7761479	Silent	SNP	G	TCGA-EL-A3ZS-01A-12D-A23M-08		7761479	73433731	11	5512											
ZMYM3	9203	broad.mit.edu	37	chrX	70466321	70466321	+	Frame_Shift_Del	DEL	A	A	-													gctgggggtggtgggggtggAggggtgggagcagtgggagc							TCGA-EL-A3ZS-01A-12D-A23M-08	TCGA-EL-A3ZS-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91019ef-9b12-40b6-bb84-8693ba5b2300	91cf9886-bdae-4fa5-b416-19840973079d	g.chrX:70466321delA	ENST00000353904.2	-	15	2641	c.2454delT	c.(2452-2454)cctfs	p.P824fs	ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.P824fs|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.P826fs|ZMYM3_ENST00000373998.1_Frame_Shift_Del_p.P812fs|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.P826fs	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	824					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GTGGGGGTGGAGGGGTGGGAG	0.577																																						ENST00000373998.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(2416-2418)ccfs		zinc finger, MYM-type 3							17	16	16					X																	70466321		2173	4217	6390	SO:0001589	frameshift_variant	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70466321delA	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.2454delT	X.37:g.70466321delA	ENSP00000343909:p.Pro824fs					ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.P824fs|ZMYM3_ENST00000353904.2_Frame_Shift_Del_p.P824fs|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.P826fs|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.P826fs|ZMYM3_ENST00000489332.1_5'UTR	p.P812fs	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			15	3115	-	Renal(35;0.156)		824					D3DVV3|O15089|Q96E26	Frame_Shift_Del	DEL	ENST00000353904.2	37	c.2418delT	CCDS14409.1																																																																																				0.577	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		2	4						2	4	---	---	---	---	-	70466321	A	-	70466321	7	5	254	1	0	1	0	1	0	0	0	0	17698	291	11	0	1702	0	ZMYM3	23	70466321	Frame_Shift_Del	DEL	A	TCGA-EL-A3ZS-01A-12D-A23M-08		70466321	84804239	12	5513											
RUSC1	23623	broad.mit.edu	37	chr1	155300201	155300201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctcccctcagggcagtgCgggctctctgtgatcacact	12	14	3	1			TCGA-EL-A3ZT-01A-12D-A23M-08	TCGA-EL-A3ZT-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a33169-6990-498f-b8fa-f978c4c6de35	fc947e09-bbcf-4555-84c3-6e3fa8b5256b	g.chr1:155300201C>T	ENST00000368352.5	+	10	2699	c.2548C>T	c.(2548-2550)Cgg>Tgg	p.R850W	RUSC1_ENST00000292254.4_Missense_Mutation_p.R381W|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368354.3_Missense_Mutation_p.R744W|RUSC1_ENST00000368349.4_Missense_Mutation_p.R381W|RUSC1_ENST00000368347.4_Missense_Mutation_p.R440W	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	850	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CAGGGCAGTGCGGGCTCTCTG	0.617																																						ENST00000368352.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21						c.(2548-2550)Cgg>Tgg		RUN and SH3 domain containing 1							89	74	79					1																	155300201		2203	4300	6503	SO:0001583	missense	23623					cytoplasm|nucleolus	SH3/SH2 adaptor activity	g.chr1:155300201C>T	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.2548C>T	1.37:g.155300201C>T	ENSP00000357336:p.Arg850Trp					RUSC1_ENST00000368347.4_Missense_Mutation_p.R440W|RUSC1_ENST00000368354.3_Missense_Mutation_p.R744W|RUSC1_ENST00000292254.4_Missense_Mutation_p.R381W|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368349.4_Missense_Mutation_p.R381W	p.R850W	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		10	2699	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		850			SH3.		B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	ENST00000368352.5	37	c.2548C>T	CCDS41410.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341654	0.41498	.	.	ENSG00000160753	ENST00000368354;ENST00000368352;ENST00000368347;ENST00000368349;ENST00000292254	T;T;T;T;T	0.37915	1.37;1.6;1.17;1.17;1.17	4.4	3.47	0.39725	Src homology-3 domain (4);	0.000000	0.41194	D	0.000929	T	0.59101	0.2169	M	0.92970	3.365	0.50313	D	0.999861	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.997;1.0;0.998;0.999	T	0.70644	-0.4815	10	0.72032	D	0.01	-28.7572	12.6539	0.56776	0.0:0.8331:0.1669:0.0	.	348;381;381;275;440;349;850	B4DQB8;Q9BVN2-2;Q5T9U9;B3KWM9;Q5T9V0;Q9BT86;Q9BVN2	.;.;.;.;.;.;RUSC1_HUMAN	W	744;850;440;381;381	ENSP00000357338:R744W;ENSP00000357336:R850W;ENSP00000357331:R440W;ENSP00000357333:R381W;ENSP00000292254:R381W	ENSP00000292254:R381W	R	+	1	2	RUSC1	153566825	0.904000	0.30761	0.888000	0.34837	0.026000	0.11368	1.884000	0.39668	1.180000	0.42898	-0.499000	0.04595	CGG		0.617	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			3	38	0	0	0	1	0	3	38					T	155300201	C	T	155300201	3	4	255	1	0	0	0	0	1	0	0	0	13750	759	27	1	2713	1	RUSC1	1	155300201	Missense_Mutation	SNP	C	TCGA-EL-A3ZT-01A-12D-A23M-08		155300201	93950420	1	5514											
WNT3A	89780	broad.mit.edu	37	chr1	228210473	228210473	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgcttctgcaggaactaCgtggagatcatgcccagcgt	11	13	2	1			TCGA-EL-A3ZT-01A-12D-A23M-08	TCGA-EL-A3ZT-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a33169-6990-498f-b8fa-f978c4c6de35	fc947e09-bbcf-4555-84c3-6e3fa8b5256b	g.chr1:228210473C>T	ENST00000284523.1	+	2	255	c.177C>T	c.(175-177)taC>taT	p.Y59Y	WNT3A_ENST00000366753.2_Silent_p.Y59Y	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	59					axis elongation involved in somitogenesis (GO:0090245)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cellular response to retinoic acid (GO:0071300)|COP9 signalosome assembly (GO:0010387)|dorsal/ventral neural tube patterning (GO:0021904)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|mammary gland development (GO:0030879)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesodermal cell fate commitment (GO:0048343)|platelet aggregation (GO:0070527)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000081)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dermatome development (GO:0061184)|positive regulation of mesodermal cell fate specification (GO:0048337)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of receptor internalization (GO:0002092)|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)|post-anal tail morphogenesis (GO:0036342)|regulation of microtubule cytoskeleton organization (GO:0070507)|skeletal muscle cell differentiation (GO:0035914)|spinal cord association neuron differentiation (GO:0021527)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription coactivator activity (GO:0003713)	p.Y59Y(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				GCAGGAACTACGTGGAGATCA	0.652																																						ENST00000284523.1																			1	Substitution - coding silent(1)	p.Y59Y(1)	ovary(1)	kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12						c.(175-177)taC>taT		wingless-type MMTV integration site family, member 3A							54	53	54					1																	228210473		2203	4300	6503	SO:0001819	synonymous_variant	89780				axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity	g.chr1:228210473C>T	AB060284	CCDS1564.1	1q42	2013-02-28			ENSG00000154342	ENSG00000154342		"Wingless-type MMTV integration sites", "Endogenous ligands"	15983	protein-coding gene	gene with protein product		606359				11414706	Standard	NM_033131		Approved		uc001hrq.2	P56704	OTTHUMG00000037593	ENST00000284523.1:c.177C>T	1.37:g.228210473C>T						WNT3A_ENST00000366753.2_Silent_p.Y59Y	p.Y59Y	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN			2	255	+		Prostate(94;0.0405)	59					Q3SY79|Q3SY80|Q969P2	Silent	SNP	ENST00000284523.1	37	c.177C>T	CCDS1564.1																																																																																				0.652	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091648.1	NM_033131		14	28	0	0	0	1	0	14	28					T	228210473	C	T	228210473	2	4	255	1	0	0	0	0	0	0	0	1	17386	547	19	1		1	WNT3A	1	228210473	Silent	SNP	C	TCGA-EL-A3ZT-01A-12D-A23M-08	72910272	228210473	21040148	2	5515											
PTPN4	5775	broad.mit.edu	37	chr2	120677714	120677714	+	Missense_Mutation	SNP	G	G	C													catgtaaaaatttgtggaaaGcatgtgtagaacatcacaca							TCGA-EL-A3ZT-01A-12D-A23M-08	TCGA-EL-A3ZT-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a33169-6990-498f-b8fa-f978c4c6de35	fc947e09-bbcf-4555-84c3-6e3fa8b5256b	g.chr2:120677714G>C	ENST00000263708.2	+	12	1669	c.898G>C	c.(898-900)Gca>Cca	p.A300P	snoU13_ENST00000459555.1_RNA	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	300	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TTTGTGGAAAGCATGTGTAGA	0.333																																						ENST00000263708.2																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30						c.(898-900)Gca>Cca		protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	Alendronate(DB00630)						123	122	123					2																	120677714		2203	4300	6503	SO:0001583	missense	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120677714G>C		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.898G>C	2.37:g.120677714G>C	ENSP00000263708:p.Ala300Pro						p.A300P	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN			12	1669	+			300			FERM.		B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	c.898G>C	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043362	0.75732	.	.	ENSG00000088179	ENST00000263708	D	0.82344	-1.6	5.55	3.57	0.40892	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.095693	0.64402	D	0.000001	D	0.85720	0.5762	M	0.66939	2.045	0.80722	D	1	P	0.40230	0.708	P	0.49387	0.609	D	0.84554	0.0646	10	0.46703	T	0.11	.	13.1862	0.59682	0.1084:0.0:0.8916:0.0	.	300	P29074	PTN4_HUMAN	P	300	ENSP00000263708:A300P	ENSP00000263708:A300P	A	+	1	0	PTPN4	120394184	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	5.073000	0.64395	0.756000	0.33013	0.655000	0.94253	GCA		0.333	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			64	77	0	0	0	1	0	64	77					C	120677714	G	C	120677714	3	2	255	1	0	0	0	0	1	0	0	0	12790	971	34	4	940	4	PTPN4	2	120677714	Missense_Mutation	SNP	G	TCGA-EL-A3ZT-01A-12D-A23M-08		120677714	122521659	3	5516	26	2									
PTPN4	5775	broad.mit.edu	37	chr2	120677715	120677715	+	Missense_Mutation	SNP	C	C	A													atgtaaaaatttgtggaaagCatgtgtagaacatcacacat							TCGA-EL-A3ZT-01A-12D-A23M-08	TCGA-EL-A3ZT-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a33169-6990-498f-b8fa-f978c4c6de35	fc947e09-bbcf-4555-84c3-6e3fa8b5256b	g.chr2:120677715C>A	ENST00000263708.2	+	12	1670	c.899C>A	c.(898-900)gCa>gAa	p.A300E	snoU13_ENST00000459555.1_RNA	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	300	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TTGTGGAAAGCATGTGTAGAA	0.333																																						ENST00000263708.2																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30						c.(898-900)gCa>gAa		protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	Alendronate(DB00630)						125	124	124					2																	120677715		2203	4300	6503	SO:0001583	missense	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120677715C>A		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.899C>A	2.37:g.120677715C>A	ENSP00000263708:p.Ala300Glu						p.A300E	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN			12	1670	+			300			FERM.		B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	c.899C>A	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395043	0.83011	.	.	ENSG00000088179	ENST00000263708	D	0.82255	-1.59	5.55	5.55	0.83447	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.095693	0.64402	D	0.000001	D	0.86497	0.5947	M	0.66939	2.045	0.80722	D	1	B	0.29671	0.254	B	0.40565	0.333	D	0.84392	0.0555	10	0.52906	T	0.07	.	19.6941	0.96016	0.0:1.0:0.0:0.0	.	300	P29074	PTN4_HUMAN	E	300	ENSP00000263708:A300E	ENSP00000263708:A300E	A	+	2	0	PTPN4	120394185	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	5.810000	0.69179	2.885000	0.99019	0.655000	0.94253	GCA		0.333	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			63	78	1	0	2.53126e-37	1	2.86143e-37	63	78					A	120677715	C	A	120677715	3	1	255	1	0	0	0	0	1	0	0	0	12790	710	25	4	941	4	PTPN4	2	120677715	Missense_Mutation	SNP	C	TCGA-EL-A3ZT-01A-12D-A23M-08	1	120677715	122521658	4	5517	26	2									
TRIO	7204	broad.mit.edu	37	chr5	14492733	14492733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgacacacgattacacgGcagtgaaggaggatgagatc	14	7	0	3			TCGA-EL-A3ZT-01A-12D-A23M-08	TCGA-EL-A3ZT-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a33169-6990-498f-b8fa-f978c4c6de35	fc947e09-bbcf-4555-84c3-6e3fa8b5256b	g.chr5:14492733G>A	ENST00000344204.4	+	49	7714	c.7690G>A	c.(7690-7692)Gca>Aca	p.A2564T	TRIO_ENST00000344135.5_Missense_Mutation_p.A63T|TRIO_ENST00000537187.1_Missense_Mutation_p.A2388T	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2564	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CGATTACACGGCAGTGAAGGA	0.517																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(7690-7692)Gca>Aca		trio Rho guanine nucleotide exchange factor							111	88	96					5																	14492733		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14492733G>A	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.7690G>A	5.37:g.14492733G>A	ENSP00000339299:p.Ala2564Thr					TRIO_ENST00000344135.5_Missense_Mutation_p.A63T|TRIO_ENST00000537187.1_Missense_Mutation_p.A2388T	p.A2564T	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			49	7714	+	Lung NSC(4;0.000742)		2564			SH3 2.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.7690G>A	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	34	5.339224	0.95783	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206;ENST00000344135	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	5.52	5.52	0.82312	Src homology-3 domain (2);	0.054930	0.64402	D	0.000001	T	0.69187	0.3083	L	0.34521	1.04	0.42253	D	0.991982	D	0.89917	1.0	D	0.97110	1.0	T	0.72033	-0.4412	10	0.72032	D	0.01	.	19.4741	0.94979	0.0:0.0:1.0:0.0	.	2564	O75962	TRIO_HUMAN	T	2564;2388;2251;63	ENSP00000339299:A2564T;ENSP00000446348:A2388T;ENSP00000426342:A2251T;ENSP00000339291:A63T	ENSP00000339291:A63T	A	+	1	0	TRIO	14545733	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.414000	0.97362	2.595000	0.87683	0.655000	0.94253	GCA		0.517	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		13	31	0	0	0	1	0	13	31					A	14492733	G	A	14492733	3	1	255	1	0	0	0	0	1	0	0	0	16549	1203	42	2	7884	2	TRIO	5	14492733	Missense_Mutation	SNP	G	TCGA-EL-A3ZT-01A-12D-A23M-08		14492733	166422527	5	5518											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3ZT-01A-12D-A23M-08	TCGA-EL-A3ZT-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a33169-6990-498f-b8fa-f978c4c6de35	fc947e09-bbcf-4555-84c3-6e3fa8b5256b	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		49	76	0	0	0	1	0	49	76					T	140453136	A	T	140453136	3	4	255	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3ZT-01A-12D-A23M-08		140453136	18685527	6	5519											
UTP20	27340	broad.mit.edu	37	chr12	101777048	101777048	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatccagaagctgtcccggaTtgcaaaactggaagctgctt	11	10	0	1	rs559137147		TCGA-EL-A3ZT-01A-12D-A23M-08	TCGA-EL-A3ZT-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a33169-6990-498f-b8fa-f978c4c6de35	fc947e09-bbcf-4555-84c3-6e3fa8b5256b	g.chr12:101777048T>G	ENST00000261637.4	+	59	8060	c.7886T>G	c.(7885-7887)aTt>aGt	p.I2629S		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2629					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CTGTCCCGGATTGCAAAACTG	0.493																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(7885-7887)aTt>aGt		UTP20, small subunit (SSU) processome component, homolog (yeast)							57	63	61					12																	101777048		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101777048T>G	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.7886T>G	12.37:g.101777048T>G	ENSP00000261637:p.Ile2629Ser						p.I2629S	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			59	8060	+			2629					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.7886T>G	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	T	16.93	3.257892	0.59321	.	.	ENSG00000120800	ENST00000261637	T	0.04551	3.6	5.73	5.73	0.89815	.	0.330121	0.39544	N	0.001326	T	0.07413	0.0187	L	0.48642	1.525	0.39109	D	0.961433	B	0.16603	0.018	B	0.18263	0.021	T	0.14476	-1.0471	10	0.48119	T	0.1	-2.0574	16.0371	0.80638	0.0:0.0:0.0:1.0	.	2629	O75691	UTP20_HUMAN	S	2629	ENSP00000261637:I2629S	ENSP00000261637:I2629S	I	+	2	0	UTP20	100301179	1.000000	0.71417	0.153000	0.22517	0.812000	0.45895	4.739000	0.62080	2.187000	0.69744	0.523000	0.50628	ATT		0.493	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		5	63	0	0	0	1	0	5	63					G	101777048	T	G	101777048	3	3	255	1	0	0	0	0	1	0	0	0	17096	1493	52	5	8120	5	UTP20	12	101777048	Missense_Mutation	SNP	T	TCGA-EL-A3ZT-01A-12D-A23M-08		101777048	32074847	7	5520											
MED13L	23389	broad.mit.edu	37	chr12	116413488	116413488	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcccagctctgtctgcttgTctttgattggggccaatata	9	11	3	1			TCGA-EL-A3ZT-01A-12D-A23M-08	TCGA-EL-A3ZT-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a33169-6990-498f-b8fa-f978c4c6de35	fc947e09-bbcf-4555-84c3-6e3fa8b5256b	g.chr12:116413488T>C	ENST00000281928.3	-	24	5626	c.5420A>G	c.(5419-5421)gAc>gGc	p.D1807G		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1807						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TGTCTGCTTGTCTTTGATTGG	0.488																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(5419-5421)gAc>gGc		mediator complex subunit 13-like							81	86	84					12																	116413488		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116413488T>C	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"thyroid hormone receptor associated protein 2"	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.5420A>G	12.37:g.116413488T>C	ENSP00000281928:p.Asp1807Gly						p.D1807G	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	24	5626	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		1807					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.5420A>G	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.513219	0.85389	.	.	ENSG00000123066	ENST00000281928	T	0.75367	-0.93	5.87	5.87	0.94306	.	0.143889	0.64402	D	0.000005	T	0.75503	0.3858	L	0.49640	1.575	0.54753	D	0.999982	P	0.43231	0.801	P	0.46510	0.519	T	0.74722	-0.3569	10	0.38643	T	0.18	.	16.5764	0.84681	0.0:0.0:0.0:1.0	.	1807	Q71F56	MD13L_HUMAN	G	1807	ENSP00000281928:D1807G	ENSP00000281928:D1807G	D	-	2	0	MED13L	114897871	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.872000	0.56085	2.371000	0.80710	0.533000	0.62120	GAC		0.488	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			6	61	0	0	0	1	0	6	61					C	116413488	T	C	116413488	3	2	255	1	0	0	0	0	1	0	0	0	9431	1667	58	3	1244	3	MED13L	12	116413488	Missense_Mutation	SNP	T	TCGA-EL-A3ZT-01A-12D-A23M-08	14636440	116413488	17438407	8	5521											
SEMA4B	10509	broad.mit.edu	37	chr15	90764978	90764978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagaacaccattgtgtcccGcattgcccgcatctgcaagg	10	13	1	1			TCGA-EL-A3ZT-01A-12D-A23M-08	TCGA-EL-A3ZT-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a33169-6990-498f-b8fa-f978c4c6de35	fc947e09-bbcf-4555-84c3-6e3fa8b5256b	g.chr15:90764978G>A	ENST00000411539.2	+	7	1102	c.842G>A	c.(841-843)cGc>cAc	p.R281H	SEMA4B_ENST00000379122.3_Missense_Mutation_p.R276H|SEMA4B_ENST00000332496.6_Missense_Mutation_p.R281H	NM_198925.2	NP_945119.1	Q9NPR2	SEM4B_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B	276	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)	receptor activity (GO:0004872)			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			ATTGTGTCCCGCATTGCCCGC	0.552											OREG0023469	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000411539.2																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12						c.(841-843)cGc>cAc		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B							49	48	48					15																	90764978		2047	4195	6242	SO:0001583	missense	10509							g.chr15:90764978G>A	AB051532	CCDS45347.1	15q25	2008-07-18						"Semaphorins"	10730	protein-coding gene	gene with protein product				SEMAC		7748561	Standard	NM_020210		Approved	SemC, KIAA1745, MGC131831	uc002boz.3	Q9NPR2		ENST00000411539.2:c.842G>A	15.37:g.90764978G>A	ENSP00000394720:p.Arg281His		OREG0023469	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1277	SEMA4B_ENST00000379122.3_Missense_Mutation_p.R276H|SEMA4B_ENST00000332496.6_Missense_Mutation_p.R281H	p.R281H	NM_198925.2	NP_945119.1			BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)		7	1102	+	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)							Q6UXE3|Q8WVP9|Q96FK5|Q9C0B8|Q9H691|Q9NPM8|Q9NPN0	Missense_Mutation	SNP	ENST00000411539.2	37	c.842G>A	CCDS45347.1	.	.	.	.	.	.	.	.	.	.	g	32	5.159288	0.94686	.	.	ENSG00000185033	ENST00000332496;ENST00000379122;ENST00000411539	T;T;T	0.32272	1.46;1.46;1.46	5.31	5.31	0.75309	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.70228	0.3200	H	0.96943	3.91	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.81236	-0.1024	10	0.87932	D	0	.	17.9333	0.89005	0.0:0.0:1.0:0.0	.	281;276	Q2NL81;Q9NPR2	.;SEM4B_HUMAN	H	281;276;281	ENSP00000332204:R281H;ENSP00000368417:R276H;ENSP00000394720:R281H	ENSP00000332204:R281H	R	+	2	0	SEMA4B	88565982	1.000000	0.71417	0.976000	0.42696	0.968000	0.65278	9.727000	0.98787	2.652000	0.90054	0.558000	0.71614	CGC		0.552	SEMA4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416810.1	NM_198925		3	30	0	0	0	1	0	3	30					A	90764978	G	A	90764978	3	1	255	1	0	0	0	0	1	0	0	0	14032	1087	38	1	868	1	SEMA4B	15	90764978	Missense_Mutation	SNP	G	TCGA-EL-A3ZT-01A-12D-A23M-08		90764978	11766414	9	5522											
SOLH	6650	broad.mit.edu	37	chr16	601310	601310	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgccacacaggttcctcaTgggtgcctcctgtggcgggg	14	13	2	0			TCGA-EL-A3ZT-01A-12D-A23M-08	TCGA-EL-A3ZT-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a33169-6990-498f-b8fa-f978c4c6de35	fc947e09-bbcf-4555-84c3-6e3fa8b5256b	g.chr16:601310T>C	ENST00000219611.2	+	8	2438	c.2075T>C	c.(2074-2076)aTg>aCg	p.M692T	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	692	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										AGGTTCCTCATGGGTGCCTCC	0.682																																						ENST00000219611.2																			0											c.(2074-2076)aTg>aCg		calpain 15							42	51	48					16																	601310		2198	4299	6497	SO:0001583	missense	6650							g.chr16:601310T>C	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"small optic lobes (Drosophila) homolog", "small optic lobes homolog (Drosophila)"	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.2075T>C	16.37:g.601310T>C	ENSP00000219611:p.Met692Thr					LA16c-366D1.3_ENST00000565879.1_RNA	p.M692T	NM_005632.2	NP_005623.1					8	2438	+								B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	ENST00000219611.2	37	c.2075T>C	CCDS10410.1	.	.	.	.	.	.	.	.	.	.	t	15.26	2.781902	0.49891	.	.	ENSG00000103326	ENST00000219611	T	0.45276	0.9	5.55	4.45	0.53987	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.65460	0.2693	M	0.86268	2.805	0.58432	D	0.999999	D	0.65815	0.995	D	0.77557	0.99	T	0.68542	-0.5381	10	0.72032	D	0.01	.	10.2506	0.43367	0.0:0.0789:0.0:0.9211	.	692	O75808	CAN15_HUMAN	T	692	ENSP00000219611:M692T	ENSP00000219611:M692T	M	+	2	0	SOLH	541311	1.000000	0.71417	0.998000	0.56505	0.683000	0.39861	7.999000	0.88496	0.933000	0.37291	0.454000	0.30748	ATG		0.682	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632		14	24	0	0	0	1	0	14	24					C	601310	T	C	601310	3	2	255	1	0	0	0	0	1	0	0	0	14925	1464	51	3	2093	3	SOLH	16	601310	Missense_Mutation	SNP	T	TCGA-EL-A3ZT-01A-12D-A23M-08		601310	89753443	10	5523											
SLC12A3	6559	broad.mit.edu	37	chr16	56906569	56906569	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggccttgcttttccagcGgacatttttgtccagaactt	8	11	1	1	rs149172580		TCGA-EL-A3ZT-01A-12D-A23M-08	TCGA-EL-A3ZT-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a33169-6990-498f-b8fa-f978c4c6de35	fc947e09-bbcf-4555-84c3-6e3fa8b5256b	g.chr16:56906569G>A	ENST00000563236.1	+	8	991	c.966G>A	c.(964-966)gcG>gcA	p.A322A	SLC12A3_ENST00000438926.2_Splice_Site_p.A322A|SLC12A3_ENST00000262502.5_Splice_Site_p.A321A|SLC12A3_ENST00000566786.1_Splice_Site_p.A321A			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	322					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CTTTTCCAGCGGACATTTTTG	0.592													G|||	1	0.000199681	0	0.0014	5008	,	,		21687	0		0	False		,,,				2504	0					ENST00000438926.2																			0				breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.e8-1		solute carrier family 12 (sodium/chloride transporter), member 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	G	,,	7,4389	12.9+/-30.5	0,7,2191	81	71	74		966,963,966	2.6	1.0	16	dbSNP_134	74	0,8600		0,0,4300	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	SLC12A3	NM_000339.2,NM_001126107.1,NM_001126108.1	,,	0,7,6491	AA,AG,GG		0.0,0.1592,0.0539	,,	322/1031,321/1030,322/1022	56906569	7,12989	2198	4300	6498	SO:0001630	splice_region_variant	0				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56906569G>A		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"Solute carriers"	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.965-1G>A	16.37:g.56906569G>A						SLC12A3_ENST00000566786.1_Splice_Site_p.A321_splice|SLC12A3_ENST00000563236.1_Splice_Site_p.A322_splice|SLC12A3_ENST00000262502.5_Splice_Site_p.A321_splice	p.A322_splice	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN			8	995	+			322					A8MSJ2|C9JNN9	Splice_Site	SNP	ENST00000563236.1	37	c.964_splice	CCDS58464.1																																																																																				0.592	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1		Silent	18	35	0	0	0	1	0	18	35					A	56906569	G	A	56906569	5	1	255	1	0	0	0	0	0	0	1	0	14384	1130	39	1	996	1	SLC12A3	16	56906569	Splice_Site	SNP	G	TCGA-EL-A3ZT-01A-12D-A23M-08	56305259	56906569	33448184	11	5524											
PLIN4	729359	broad.mit.edu	37	chr19	4510792	4510792	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtccaccccaggaggtggcGggggtactaggtaaccagtt	15	10	0	0	rs144380069	byFrequency	TCGA-EL-A3ZT-01A-12D-A23M-08	TCGA-EL-A3ZT-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a33169-6990-498f-b8fa-f978c4c6de35	fc947e09-bbcf-4555-84c3-6e3fa8b5256b	g.chr19:4510792G>A	ENST00000301286.3	-	3	3137	c.3138C>T	c.(3136-3138)ccC>ccT	p.P1046P		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1046						cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						AGGAGGTGGCGGGGGTACTAG	0.637													N|||	16	0.00319489	0	0	5008	,	,		17541	0.001		0.006	False		,,,				2504	0.0092					ENST00000301286.3																			0				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						c.(3136-3138)ccC>ccT		perilipin 4				5,4169		0,5,2082	54	63	60		3138	-6.0	0.0	19	dbSNP_134	60	55,8381		0,55,4163	no	coding-synonymous	PLIN4	NM_001080400.1		0,60,6245	AA,AG,GG		0.652,0.1198,0.4758		1046/1358	4510792	60,12550	2087	4218	6305	SO:0001819	synonymous_variant	729359					lipid particle|plasma membrane		g.chr19:4510792G>A	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.3138C>T	19.37:g.4510792G>A							p.P1046P	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN			3	3137	-			1046					A6NEI2	Silent	SNP	ENST00000301286.3	37	c.3138C>T	CCDS45927.1																																																																																				0.637	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		3	41	0	0	0	1	0	3	41					A	4510792	G	A	4510792	2	1	255	1	0	0	0	0	0	0	0	1	12092	1103	39	1		1	PLIN4	19	4510792	Silent	SNP	G	TCGA-EL-A3ZT-01A-12D-A23M-08		4510792	54618191	12	5525											
ZC3H4	23211	broad.mit.edu	37	chr19	47572495	47572495	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caccggcgcctggcttcggcCggcctgggggccctccctca	14	19	1	0	rs372785889		TCGA-EL-A3ZT-01A-12D-A23M-08	TCGA-EL-A3ZT-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a33169-6990-498f-b8fa-f978c4c6de35	fc947e09-bbcf-4555-84c3-6e3fa8b5256b	g.chr19:47572495C>A	ENST00000253048.5	-	14	2289	c.2252G>T	c.(2251-2253)cGg>cTg	p.R751L	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	751							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TGGCTTCGGCCGGCCTGGGGG	0.677																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(2251-2253)cGg>cTg		zinc finger CCCH-type containing 4							25	30	29					19																	47572495		1909	4105	6014	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47572495C>A	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2252G>T	19.37:g.47572495C>A	ENSP00000253048:p.Arg751Leu					ZC3H4_ENST00000594019.1_Intron	p.R751L	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	14	2289	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	751					Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.2252G>T	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.640046	0.29157	.	.	ENSG00000130749	ENST00000253048	T	0.18174	2.23	5.17	4.11	0.48088	.	1.018400	0.07859	N	0.965990	T	0.14485	0.0350	L	0.36672	1.1	0.28761	N	0.900886	B	0.10296	0.003	B	0.10450	0.005	T	0.31943	-0.9925	10	0.11485	T	0.65	.	10.2217	0.43201	0.1528:0.6994:0.1478:0.0	.	751	Q9UPT8	ZC3H4_HUMAN	L	751	ENSP00000253048:R751L	ENSP00000253048:R751L	R	-	2	0	ZC3H4	52264335	0.994000	0.37717	1.000000	0.80357	0.936000	0.57629	1.015000	0.29963	1.361000	0.45981	0.591000	0.81541	CGG		0.677	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			11	17	1	0	7.03913e-09	1	7.62572e-09	11	17					A	47572495	C	A	47572495	3	1	255	1	0	0	0	0	1	0	0	0	17567	652	23	4	1667	4	ZC3H4	19	47572495	Missense_Mutation	SNP	C	TCGA-EL-A3ZT-01A-12D-A23M-08	43061703	47572495	11556488	13	5526											
TFE3	7030	broad.mit.edu	37	chrX	48896807	48896807	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgcctgggcccgcattAgctgctgccgcagcaagacc	12	17	0	1			TCGA-EL-A3ZT-01A-12D-A23M-08	TCGA-EL-A3ZT-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a33169-6990-498f-b8fa-f978c4c6de35	fc947e09-bbcf-4555-84c3-6e3fa8b5256b	g.chrX:48896807A>C	ENST00000315869.7	-	3	618	c.359T>G	c.(358-360)cTa>cGa	p.L120R	TFE3_ENST00000487451.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	120					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						GGCCCGCATTAGCTGCTGCCG	0.657			T	"SFPQ, ASPSCR1, PRCC, NONO, CLTC"	"papillary renal, alveolar soft part sarcoma, renal"																																	ENST00000315869.7				Dom	yes		X	Xp11.22	7030	T	transcription factor binding to IGHM enhancer 3			E	"SFPQ, ASPSCR1, PRCC, NONO, CLTC"		"papillary renal, alveolar soft part sarcoma, renal"	NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	0				central_nervous_system(1)	1						c.(358-360)cTa>cGa		transcription factor binding to IGHM enhancer 3							20	18	18					X																	48896807		2201	4298	6499	SO:0001583	missense	7030				humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chrX:48896807A>C	X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"Basic helix-loop-helix proteins"	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.359T>G	X.37:g.48896807A>C	ENSP00000314129:p.Leu120Arg					TFE3_ENST00000493583.1_5'UTR	p.L120R	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN			3	618	-			120					A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Missense_Mutation	SNP	ENST00000315869.7	37	c.359T>G	CCDS14315.3	.	.	.	.	.	.	.	.	.	.	A	17.13	3.311874	0.60414	.	.	ENSG00000068323	ENST00000315869	T	0.58797	0.31	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000006	T	0.73353	0.3576	M	0.71206	2.165	0.54753	D	0.999989	D	0.71674	0.998	D	0.83275	0.996	T	0.76498	-0.2937	10	0.87932	D	0	-8.8663	11.6256	0.51142	1.0:0.0:0.0:0.0	.	120	P19532	TFE3_HUMAN	R	120	ENSP00000314129:L120R	ENSP00000314129:L120R	L	-	2	0	TFE3	48783751	1.000000	0.71417	0.995000	0.50966	0.761000	0.43186	8.566000	0.90734	1.728000	0.51552	0.417000	0.27973	CTA		0.657	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2	NM_006521		8	3	0	0	0	1	0	8	3					C	48896807	A	C	48896807	3	2	255	1	0	0	0	0	1	0	0	0	15797	420	15	5	1400	5	TFE3	23	48896807	Missense_Mutation	SNP	A	TCGA-EL-A3ZT-01A-12D-A23M-08		48896807	106373753	14	5527											
RERE	473	broad.mit.edu	37	chr1	8716118	8716118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cataacgagacttttttttcGgtggtttcttcttattcttc	6	8	3	1	rs139888880	byFrequency	TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr1:8716118G>A	ENST00000337907.3	-	3	873	c.239C>T	c.(238-240)cCg>cTg	p.P80L	RERE_ENST00000400908.2_Missense_Mutation_p.P80L|RERE_ENST00000400907.2_Missense_Mutation_p.P80L	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	80					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P80Q(1)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CTTTTTTTTCGGTGGTTTCTT	0.443																																						ENST00000337907.3																			1	Substitution - Missense(1)	p.P80Q(1)	lung(1)	central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(238-240)cCg>cTg		arginine-glutamic acid dipeptide (RE) repeats		G	LEU/PRO,LEU/PRO	6,4400	11.4+/-27.6	0,6,2197	316	292	300		239,239	5.4	1.0	1	dbSNP_134	300	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	RERE	NM_001042681.1,NM_012102.3	98,98	0,7,6496	AA,AG,GG		0.0116,0.1362,0.0538	probably-damaging,probably-damaging	80/1567,80/1567	8716118	7,12999	2203	4300	6503	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8716118G>A	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.239C>T	1.37:g.8716118G>A	ENSP00000338629:p.Pro80Leu					RERE_ENST00000400907.2_Missense_Mutation_p.P80L|RERE_ENST00000400908.2_Missense_Mutation_p.P80L	p.P80L	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	3	873	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	80					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.239C>T	CCDS95.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201467	0.79015	0.001362	1.16E-4	ENSG00000142599	ENST00000337907;ENST00000400907;ENST00000400908	T;T	0.46451	0.87;0.87	5.45	5.45	0.79879	.	.	.	.	.	T	0.51449	0.1675	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.45425	-0.9262	9	0.29301	T	0.29	-17.9739	18.2804	0.90096	0.0:0.0:1.0:0.0	.	80	Q9P2R6	RERE_HUMAN	L	80	ENSP00000338629:P80L;ENSP00000383700:P80L	ENSP00000338629:P80L	P	-	2	0	RERE	8638705	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.452000	0.80683	2.553000	0.86117	0.557000	0.71058	CCG		0.443	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			17	255	0	0	0	1	0	17	255					A	8716118	G	A	8716118	3	1	256	1	0	0	0	0	1	0	0	0	13231	1116	39	1	4549	1	RERE	1	8716118	Missense_Mutation	SNP	G	TCGA-EL-A4JV-01A-11D-A257-08		8716118	240534503	1	5528											
PTCHD2	57540	broad.mit.edu	37	chr1	11562110	11562110	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggggcggcaagatctactAtgacggcatgggccaggacc	16	10	1	2			TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr1:11562110A>G	ENST00000294484.6	+	2	1199	c.1061A>G	c.(1060-1062)tAt>tGt	p.Y354C	PTCHD2_ENST00000389575.3_Missense_Mutation_p.Y354C	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	354					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)		AAGATCTACTATGACGGCATG	0.607																																						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.(1060-1062)tAt>tGt		patched domain containing 2							32	35	34					1																	11562110		1904	4113	6017	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11562110A>G	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.1061A>G	1.37:g.11562110A>G	ENSP00000294484:p.Tyr354Cys					PTCHD2_ENST00000389575.3_Missense_Mutation_p.Y354C	p.Y354C	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	1199	+	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)	354					Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.1061A>G	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	A	17.01	3.280037	0.59758	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.28666	1.6;1.6	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.41949	0.1181	N	0.24115	0.695	0.53688	D	0.999973	D	0.89917	1.0	D	0.87578	0.998	T	0.39840	-0.9594	10	0.59425	D	0.04	-14.6375	14.4989	0.67707	1.0:0.0:0.0:0.0	.	354	Q9P2K9	PTHD2_HUMAN	C	354	ENSP00000294484:Y354C;ENSP00000374226:Y354C	ENSP00000294484:Y354C	Y	+	2	0	PTCHD2	11484697	1.000000	0.71417	0.902000	0.35471	0.765000	0.43378	5.598000	0.67585	2.020000	0.59435	0.533000	0.62120	TAT		0.607	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		18	21	0	0	0	1	0	18	21					G	11562110	A	G	11562110	3	3	256	1	0	0	0	0	1	0	0	0	12733	449	16	3	1063	3	PTCHD2	1	11562110	Missense_Mutation	SNP	A	TCGA-EL-A4JV-01A-11D-A257-08	2845992	11562110	237688511	2	5529											
TDRD5	163589	broad.mit.edu	37	chr1	179609053	179609053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccgggacatctctgttgtGtaaggatttctgaggataag	13	6	2	1			TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr1:179609053G>A	ENST00000367614.1	+	10	1959	c.1600G>A	c.(1600-1602)Gta>Ata	p.V534I	TDRD5_ENST00000294848.8_Missense_Mutation_p.V534I|TDRD5_ENST00000444136.1_Missense_Mutation_p.V534I	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	534	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.				DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TCTCTGTTGTGTAAGGATTTC	0.423																																						ENST00000444136.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						c.(1600-1602)Gta>Ata		tudor domain containing 5							214	204	207					1																	179609053		2203	4300	6503	SO:0001583	missense	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179609053G>A	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"Tudor domain containing"	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.1600G>A	1.37:g.179609053G>A	ENSP00000356586:p.Val534Ile					TDRD5_ENST00000294848.8_Missense_Mutation_p.V534I|TDRD5_ENST00000367614.1_Missense_Mutation_p.V534I	p.V534I	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN			10	1850	+			534			Tudor.		A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	c.1600G>A	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.175937	0.57692	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136	T;T;T	0.10860	2.83;2.83;2.83	5.33	4.42	0.53409	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.067875	0.64402	D	0.000019	T	0.25382	0.0617	M	0.62723	1.935	0.39209	D	0.96328	D;D	0.67145	0.996;0.996	D;D	0.68353	0.947;0.957	T	0.02121	-1.1210	10	0.51188	T	0.08	-2.5321	8.5477	0.33433	0.0821:0.1535:0.7644:0.0	.	534;534	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	I	534	ENSP00000356586:V534I;ENSP00000294848:V534I;ENSP00000406052:V534I	ENSP00000294848:V534I	V	+	1	0	TDRD5	177875676	1.000000	0.71417	0.976000	0.42696	0.634000	0.38068	5.434000	0.66526	1.249000	0.43950	-0.136000	0.14681	GTA		0.423	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		70	82	0	0	0	1	0	70	82					A	179609053	G	A	179609053	3	1	256	1	0	0	0	0	1	0	0	0	15730	1377	48	2	1634	2	TDRD5	1	179609053	Missense_Mutation	SNP	G	TCGA-EL-A4JV-01A-11D-A257-08	168046943	179609053	69641568	3	5530											
TFEB	7942	broad.mit.edu	37	chr6	41658830	41658832	+	In_Frame_Del	DEL	TGC	TGC	-													gccctccgagctgctgctgtTgctgctgctgctgctgctgc					rs150746914	byFrequency	TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr6:41658830_41658832delTGC	ENST00000230323.4	-	3	421_423	c.120_122delGCA	c.(118-123)cagcaa>caa	p.40_41QQ>Q	TFEB_ENST00000403298.4_In_Frame_Del_p.40_41QQ>Q|TFEB_ENST00000394283.1_In_Frame_Del_p.40_41QQ>Q|TFEB_ENST00000358871.2_In_Frame_Del_p.54_55QQ>Q|TFEB_ENST00000420312.1_In_Frame_Del_p.40_41QQ>Q|TFEB_ENST00000373033.1_In_Frame_Del_p.40_41QQ>Q	NM_001271945.1|NM_007162.2	NP_001258874.1|NP_009093.1	P19484	TFEB_HUMAN	transcription factor EB	40	Gln-rich.|Poly-Gln.				autophagy (GO:0006914)|embryonic placenta development (GO:0001892)|humoral immune response (GO:0006959)|lysosome organization (GO:0007040)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.Q44delQ(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			ctgctgctgttgctgctgctgct	0.65			T	ALPHA	renal (childhood epithelioid)						OREG0004069	type=REGULATORY REGION|Gene=TFEB|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000394283.1				Dom	yes		6	6p21	7942	T	transcription factor EB			"E,M"	ALPHA		renal (childhood epithelioid)		1	Deletion - In frame(1)	p.Q44delQ(1)	prostate(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11						c.(118-123)caa>ca		transcription factor EB			,	99,2,3979		8,0,83,0,2,1947					,	3.2	1.0			17	237,1,7686		26,0,185,0,1,3750	no	codingComplex,codingComplex	TFEB	NM_007162.2,NM_001167827.1	,	34,0,268,0,3,5697	A1A1,A1A2,A1R,A2A2,A2R,RR		3.0035,2.4755,2.8241	,	,		336,3,11665				SO:0001651	inframe_deletion	7942				embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr6:41658830_41658832delTGC	M33782	CCDS4858.1, CCDS64424.1, CCDS64425.1	6p21	2013-05-21			ENSG00000112561	ENSG00000112561		"Basic helix-loop-helix proteins"	11753	protein-coding gene	gene with protein product		600744				2115126	Standard	NM_007162		Approved	TCFEB, bHLHe35	uc003oqu.2	P19484	OTTHUMG00000014684	ENST00000230323.4:c.120_122delGCA	6.37:g.41658839_41658841delTGC	ENSP00000230323:p.Gln44del		OREG0004069	type=REGULATORY REGION|Gene=TFEB|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	902	TFEB_ENST00000403298.4_In_Frame_Del_p.QQ42del|TFEB_ENST00000358871.2_In_Frame_Del_p.QQ56del|TFEB_ENST00000230323.4_In_Frame_Del_p.QQ42del|TFEB_ENST00000373033.1_In_Frame_Del_p.QQ42del|TFEB_ENST00000420312.1_In_Frame_Del_p.QQ42del	p.QQ42del			P19484	TFEB_HUMAN	Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)		2	1346_1348	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		42			Gln-rich.|Poly-Gln.		Q709B3|Q7Z6P9|Q9BRJ5|Q9UJD8	In_Frame_Del	DEL	ENST00000230323.4	37	c.120_122delGCA	CCDS4858.1																																																																																				0.65	TFEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040522.3			2	4						2	4	---	---	---	---	-	41658832	TGC	-	41658830	7	5	256	1	0	1	0	1	0	0	0	0	15798	1812	63	0	1340	0	TFEB	6	41658830	In_Frame_Del	DEL	TGC	TCGA-EL-A4JV-01A-11D-A257-08		41658830	129456237	4	5531											
NPC1L1	29881	broad.mit.edu	37	chr7	44578575	44578575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtattgtccggattgaggGgggcgtagcagatgtcctgc	17	7	0	2			TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr7:44578575G>A	ENST00000289547.4	-	2	1476	c.1421C>T	c.(1420-1422)cCc>cTc	p.P474L	NPC1L1_ENST00000423141.1_Missense_Mutation_p.P474L|NPC1L1_ENST00000546276.1_Missense_Mutation_p.P474L|NPC1L1_ENST00000381160.3_Missense_Mutation_p.P474L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	474					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CGGATTGAGGGGGGCGTAGCA	0.597																																						ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(1420-1422)cCc>cTc		NPC1-like 1	Ezetimibe(DB00973)						124	109	114					7																	44578575		2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44578575G>A		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.1421C>T	7.37:g.44578575G>A	ENSP00000289547:p.Pro474Leu					NPC1L1_ENST00000381160.3_Missense_Mutation_p.P474L|NPC1L1_ENST00000423141.1_Missense_Mutation_p.P474L|NPC1L1_ENST00000546276.1_Missense_Mutation_p.P474L	p.P474L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			2	1476	-			474					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.1421C>T	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	g	18.09	3.546370	0.65198	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.95588	-3.75;-3.75;-3.75;-3.75	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.98143	0.9387	M	0.93062	3.375	0.80722	D	1	D;D;D;D	0.89917	0.998;0.992;0.999;1.0	D;P;D;D	0.74674	0.913;0.9;0.984;0.976	D	0.99204	1.0874	10	0.72032	D	0.01	-43.0919	15.9151	0.79508	0.0:0.0:1.0:0.0	.	474;474;474;474	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	L	474	ENSP00000289547:P474L;ENSP00000370552:P474L;ENSP00000438033:P474L;ENSP00000404670:P474L	ENSP00000289547:P474L	P	-	2	0	NPC1L1	44545100	1.000000	0.71417	0.871000	0.34182	0.383000	0.30230	9.016000	0.93645	2.353000	0.79882	0.407000	0.27541	CCC		0.597	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		3	46	0	0	0	1	0	3	46					A	44578575	G	A	44578575	3	1	256	1	0	0	0	0	1	0	0	0	10571	1232	43	2	2734	2	NPC1L1	7	44578575	Missense_Mutation	SNP	G	TCGA-EL-A4JV-01A-11D-A257-08		44578575	114560088	5	5532											
TACC2	10579	broad.mit.edu	37	chr10	123843832	123843832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggctttcagcagcaagcGtgatccagaagtaggcaaag	12	9	2	2			TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr10:123843832G>A	ENST00000369005.1	+	4	2157	c.1817G>A	c.(1816-1818)cGt>cAt	p.R606H	TACC2_ENST00000515273.1_Missense_Mutation_p.R606H|TACC2_ENST00000453444.2_Missense_Mutation_p.R606H|TACC2_ENST00000334433.3_Missense_Mutation_p.R606H|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.R606H|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	606					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGCAGCAAGCGTGATCCAGAA	0.572																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(1816-1818)cGt>cAt		transforming, acidic coiled-coil containing protein 2							70	66	67					10																	123843832		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123843832G>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.1817G>A	10.37:g.123843832G>A	ENSP00000358001:p.Arg606His					TACC2_ENST00000515273.1_Missense_Mutation_p.R606H|TACC2_ENST00000453444.2_Missense_Mutation_p.R606H|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.R606H|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.R606H	p.R606H	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	2157	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	606					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.1817G>A	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.662280	0.29515	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.03035	4.08;4.07;4.07;4.08;4.07	5.29	3.31	0.37934	.	0.733388	0.11267	N	0.581933	T	0.02533	0.0077	N	0.14661	0.345	0.09310	N	1	P;P;P	0.36616	0.561;0.561;0.561	B;B;B	0.24974	0.057;0.057;0.057	T	0.45862	-0.9232	10	0.72032	D	0.01	-0.3458	11.3784	0.49741	0.0:0.6235:0.3765:0.0	.	606;606;606	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	H	606;606;606;606;606;596	ENSP00000358001:R606H;ENSP00000424467:R606H;ENSP00000427618:R606H;ENSP00000334280:R606H;ENSP00000395048:R606H	ENSP00000334280:R606H	R	+	2	0	TACC2	123833822	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.150000	0.10189	1.233000	0.43693	-0.311000	0.09066	CGT		0.572	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			3	45	0	0	0	1	0	3	45					A	123843832	G	A	123843832	3	1	256	1	0	0	0	0	1	0	0	0	15499	1145	40	1	1827	1	TACC2	10	123843832	Missense_Mutation	SNP	G	TCGA-EL-A4JV-01A-11D-A257-08		123843832	11690915	6	5533											
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	14	13	0	0	rs121913233		TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117	102	107					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)				HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R	p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		29	48	0	0	0	1	0	29	48					C	533874	T	C	533874	3	2	256	1	0	0	0	0	1	0	0	0	7348	1580	55	3	466	3	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-EL-A4JV-01A-11D-A257-08		533874	134472642	7	5534											
AP2A2	161	broad.mit.edu	37	chr11	981217	981217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgtggtaactgcagccaCaagtctgatcaccactttag	11	10	2	1			TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr11:981217C>T	ENST00000448903.2	+	6	764	c.623C>T	c.(622-624)aCa>aTa	p.T208I	AP2A2_ENST00000534328.1_Missense_Mutation_p.T208I|AP2A2_ENST00000332231.5_Missense_Mutation_p.T208I	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	208					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACTGCAGCCACAAGTCTGATC	0.453																																						ENST00000448903.2																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21						c.(622-624)aCa>aTa		adaptor-related protein complex 2, alpha 2 subunit							69	68	69					11																	981217		1972	4150	6122	SO:0001583	missense	161				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity	g.chr11:981217C>T	AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"alpha-adaptin C; Huntingtin interacting protein J", "adaptin, alpha B", "clathrin-associated/assembly/adaptor protein, large, alpha 2"	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.623C>T	11.37:g.981217C>T	ENSP00000413234:p.Thr208Ile					AP2A2_ENST00000534328.1_Missense_Mutation_p.T208I|AP2A2_ENST00000332231.5_Missense_Mutation_p.T208I	p.T208I	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)	6	764	+		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	208					O75403|Q53ET1|Q96SI8	Missense_Mutation	SNP	ENST00000448903.2	37	c.623C>T	CCDS44512.1	.	.	.	.	.	.	.	.	.	.	C	2.472	-0.321650	0.05386	.	.	ENSG00000183020	ENST00000525796;ENST00000534328;ENST00000417081;ENST00000448903;ENST00000332231;ENST00000448757;ENST00000329626	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	3.09	2.18	0.27775	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.196210	0.43919	D	0.000511	T	0.18173	0.0436	L	0.31752	0.955	0.19575	N	0.999969	B;B;B	0.13145	0.004;0.007;0.002	B;B;B	0.17098	0.017;0.015;0.012	T	0.20907	-1.0261	10	0.46703	T	0.11	.	10.9028	0.47062	0.0:0.9045:0.0:0.0954	.	101;208;208	Q59FN8;O94973-2;O94973	.;.;AP2A2_HUMAN	I	48;208;208;208;208;208;81	ENSP00000437228:T48I;ENSP00000436059:T208I;ENSP00000413234:T208I;ENSP00000327694:T208I	ENSP00000328024:T81I	T	+	2	0	AP2A2	971217	0.474000	0.25886	0.002000	0.10522	0.055000	0.15305	1.728000	0.38105	0.893000	0.36288	-0.229000	0.12294	ACA		0.453	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	NM_012305		4	8	0	0	0	1	0	4	8					T	981217	C	T	981217	3	4	256	1	0	0	0	0	1	0	0	0	740	478	17	2	645	2	AP2A2	11	981217	Missense_Mutation	SNP	C	TCGA-EL-A4JV-01A-11D-A257-08	447343	981217	134025299	8	5535											
ZC3H14	79882	broad.mit.edu	37	chr14	89061103	89061103	+	Intron	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagtttccatcaccaccTctaccaatttttcttccacc	1	16	4	0	rs565303355		TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr14:89061103T>G	ENST00000251038.5	+	10	1504				ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000555755.1_Intron|ZC3H14_ENST00000555900.1_Silent_p.P11P|ZC3H14_ENST00000393514.5_Intron|ZC3H14_ENST00000406216.3_Silent_p.P11P|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000318308.6_Silent_p.P11P|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000336693.4_Intron	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14							cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						CATCACCACCTCTACCAATTT	0.378																																						ENST00000555900.1																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						c.(31-33)ccT>ccG		zinc finger CCCH-type containing 14							88	87	87					14																	89061103		2203	4300	6503	SO:0001627	intron_variant	79882					cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding	g.chr14:89061103T>G	AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"Zinc fingers, CCCH-type domain containing"	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.1280-1975T>G	14.37:g.89061103T>G						ZC3H14_ENST00000555755.1_Intron|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000406216.3_Silent_p.P11P|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000393514.5_Intron|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000336693.4_Intron|ZC3H14_ENST00000318308.6_Silent_p.P11P|ZC3H14_ENST00000251038.5_Intron	p.P11P			Q6PJT7	ZC3HE_HUMAN			1	345	+			666					A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Silent	SNP	ENST00000251038.5	37	c.33T>G	CCDS32133.1																																																																																				0.378	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824		5	63	0	0	0	1	0	5	63					G	89061103	T	G	89061103	1	3	256	0	1	0	0	0	0	0	0	0	17563	1538	54	5		5	ZC3H14	14	89061103	Intron	SNP	T	TCGA-EL-A4JV-01A-11D-A257-08		89061103	18288437	9	5536											
MYH13	8735	broad.mit.edu	37	chr17	10216500	10216500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctccagctcctctgtgcGctgaatggcgtccgtctcgt	10	16	2	1			TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr17:10216500G>A	ENST00000418404.3	-	29	4319	c.4156C>T	c.(4156-4158)Cgc>Tgc	p.R1386C	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.R1386C			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1386					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCCTCTGTGCGCTGAATGGCG	0.617																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(4156-4158)Cgc>Tgc		myosin, heavy chain 13, skeletal muscle							139	134	136					17																	10216500		2203	4300	6503	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10216500G>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4156C>T	17.37:g.10216500G>A	ENSP00000404570:p.Arg1386Cys					MYH13_ENST00000252172.4_Missense_Mutation_p.R1386C|MYH13_ENST00000570743.1_Missense_Mutation_p.R1386C	p.R1386C			Q9UKX3	MYH13_HUMAN			29	4319	-			1386					O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.4156C>T	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.583801	0.46006	.	.	ENSG00000006788	ENST00000252172	T	0.81078	-1.45	3.96	3.96	0.45880	Myosin tail (1);	.	.	.	.	D	0.90363	0.6984	H	0.95043	3.615	0.46317	D	0.998982	B	0.30361	0.277	P	0.47376	0.545	D	0.91917	0.5544	9	0.87932	D	0	.	12.2372	0.54522	0.0868:0.0:0.9132:0.0	.	1386	Q9UKX3	MYH13_HUMAN	C	1386	ENSP00000252172:R1386C	ENSP00000252172:R1386C	R	-	1	0	MYH13	10157225	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	1.132000	0.31418	2.207000	0.71202	0.462000	0.41574	CGC		0.617	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		48	78	0	0	0	1	0	48	78					A	10216500	G	A	10216500	3	1	256	1	0	0	0	0	1	0	0	0	10032	1087	38	1	1708	1	MYH13	17	10216500	Missense_Mutation	SNP	G	TCGA-EL-A4JV-01A-11D-A257-08		10216500	70978710	10	5537											
ADNP2	22850	broad.mit.edu	37	chr18	77894961	77894961	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgtgtcgggagttcttccTgtgggccagccagtgaggcc	16	10	1	1			TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr18:77894961T>C	ENST00000262198.4	+	4	2120	c.1665T>C	c.(1663-1665)ccT>ccC	p.P555P		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	555					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|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(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		GAGTTCTTCCTGTGGGCCAGC	0.557																																						ENST00000262198.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42						c.(1663-1665)ccT>ccC		ADNP homeobox 2							92	83	86					18																	77894961		2203	4300	6503	SO:0001819	synonymous_variant	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77894961T>C	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	23803	protein-coding gene	gene with protein product			"zinc finger protein 508"	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.1665T>C	18.37:g.77894961T>C							p.P555P	NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	4	2120	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	555					A8K951|O94943|Q9H9P3	Silent	SNP	ENST00000262198.4	37	c.1665T>C	CCDS32853.1																																																																																				0.557	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		5	92	0	0	0	1	0	5	92					C	77894961	T	C	77894961	2	2	256	1	0	0	0	0	0	0	0	1	324	1567	55	3		3	ADNP2	18	77894961	Silent	SNP	T	TCGA-EL-A4JV-01A-11D-A257-08		77894961	182287	11	5538											
LILRB1	10859	broad.mit.edu	37	chr19	55146590	55146590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttccaacatcctgcagggGctgtggggccagagcccaca	12	13	0	1			TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr19:55146590G>A	ENST00000396331.1	+	12	1876	c.1519G>A	c.(1519-1521)Gct>Act	p.A507T	LILRB1_ENST00000396332.4_Missense_Mutation_p.A507T|LILRB1_ENST00000434867.2_Missense_Mutation_p.A507T|LILRB1_ENST00000396327.3_Missense_Mutation_p.A508T|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396317.1_Missense_Mutation_p.A491T|LILRB1_ENST00000418536.2_Missense_Mutation_p.A491T|LILRB1_ENST00000324602.7_Missense_Mutation_p.A508T|LILRB1_ENST00000396315.1_Missense_Mutation_p.A508T|LILRB1_ENST00000396321.2_Missense_Mutation_p.A507T|LILRB1_ENST00000427581.2_Missense_Mutation_p.A557T|LILRB1_ENST00000448689.1_Intron	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	507					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TCCTGCAGGGGCTGTGGGGCC	0.617										HNSCC(37;0.09)																												ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(1519-1521)Gct>Act		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1							12	14	13					19																	55146590		2001	4127	6128	SO:0001583	missense	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55146590G>A	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1519G>A	19.37:g.55146590G>A	ENSP00000379622:p.Ala507Thr	HNSCC(37;0.09)				LILRB1_ENST00000434867.2_Missense_Mutation_p.A507T|LILRB1_ENST00000396315.1_Missense_Mutation_p.A508T|LILRB1_ENST00000396321.2_Missense_Mutation_p.A507T|LILRB1_ENST00000396317.1_Missense_Mutation_p.A491T|LILRB1_ENST00000396332.4_Missense_Mutation_p.A507T|LILRB1_ENST00000418536.2_Missense_Mutation_p.A491T|LILRB1_ENST00000396327.3_Missense_Mutation_p.A508T|LILRB1_ENST00000324602.7_Missense_Mutation_p.A508T|LILRB1_ENST00000427581.2_Missense_Mutation_p.A557T|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000448689.1_Intron	p.A507T	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	12	1876	+			507					A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.1519G>A	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	G	7.159	0.585397	0.13749	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T	0.00529	7.0;6.88;7.0;6.87;6.78;7.0;7.0;6.8;6.88;6.78	1.3	1.3	0.21679	.	.	.	.	.	T	0.01454	0.0047	M	0.85542	2.76	0.09310	N	1	B;B;P;P;D;D	0.65815	0.255;0.255;0.908;0.609;0.995;0.985	B;B;P;B;D;P	0.65233	0.046;0.067;0.544;0.235;0.933;0.836	T	0.43147	-0.9409	9	0.62326	D	0.03	.	5.9701	0.19346	0.0:0.0:1.0:0.0	.	491;507;508;507;508;507	A8MVE2;D9IDM5;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;.;LIRB1_HUMAN	T	507;491;507;508;508;507;507;557;491;508	ENSP00000379614:A507T;ENSP00000391514:A491T;ENSP00000379622:A507T;ENSP00000379618:A508T;ENSP00000315997:A508T;ENSP00000405243:A507T;ENSP00000379623:A507T;ENSP00000395004:A557T;ENSP00000379610:A491T;ENSP00000379608:A508T	ENSP00000315997:A508T	A	+	1	0	LILRB1	59838402	0.003000	0.15002	0.009000	0.14445	0.110000	0.19582	0.016000	0.13377	1.006000	0.39211	0.205000	0.17691	GCT		0.617	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			21	15	0	0	0	1	0	21	15					A	55146590	G	A	55146590	3	1	256	1	0	0	0	0	1	0	0	0	8790	1203	42	2	1560	2	LILRB1	19	55146590	Missense_Mutation	SNP	G	TCGA-EL-A4JV-01A-11D-A257-08		55146590	3982393	12	5539											
BAT2L2	23215	broad.mit.edu	37	chr1	171509227	171509227	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaagtgaggcacaagtacaAaagtttttaagcagatctgt	9	6	2	2			TCGA-EL-A4JW-01A-11D-A257-08	TCGA-EL-A4JW-11A-12D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f3ed41c-8506-4db3-b856-ca823d511258	9b411822-8132-4319-a3a5-0600a50a1c7d	g.chr1:171509227A>G	ENST00000338920.4	+	16	2853	c.2616A>G	c.(2614-2616)caA>caG	p.Q872Q	PRRC2C_ENST00000392078.3_Silent_p.Q874Q|PRRC2C_ENST00000426496.2_Silent_p.Q872Q|PRRC2C_ENST00000367742.3_Silent_p.Q874Q	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	872					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										CACAAGTACAAAAGTTTTTAA	0.398																																						ENST00000367742.3																			0											c.(2620-2622)caA>caG		proline-rich coiled-coil 2C							141	144	143					1																	171509227		2203	4300	6503	SO:0001819	synonymous_variant	23215						protein C-terminus binding	g.chr1:171509227A>G	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"BAT2 domain containing 1", "HLA-B associated transcript 2-like 2"	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.2616A>G	1.37:g.171509227A>G						PRRC2C_ENST00000338920.4_Silent_p.Q872Q|PRRC2C_ENST00000392078.3_Silent_p.Q874Q|PRRC2C_ENST00000426496.2_Silent_p.Q872Q	p.Q874Q			Q9Y520	PRC2C_HUMAN			16	2864	+			872					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Silent	SNP	ENST00000338920.4	37	c.2622A>G	CCDS1296.2																																																																																				0.398	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		38	71	0	0	0	1	0	38	71					G	171509227	A	G	171509227	2	3	257	1	0	0	0	0	0	0	0	1	1321	11	1	3		3	BAT2L2	1	171509227	Silent	SNP	A	TCGA-EL-A4JW-01A-11D-A257-08		171509227	77741394	1	5540											
UQCRC1	7384	broad.mit.edu	37	chr3	48638425	48638425	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccacgccaccaccataagTgcagtcatagtggccgatga	9	14	1	1			TCGA-EL-A4JW-01A-11D-A257-08	TCGA-EL-A4JW-11A-12D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f3ed41c-8506-4db3-b856-ca823d511258	9b411822-8132-4319-a3a5-0600a50a1c7d	g.chr3:48638425T>C	ENST00000203407.5	-	8	1365	c.949A>G	c.(949-951)Act>Gct	p.T317A		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	317					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to alkaloid (GO:0043279)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCACCATAAGTGCAGTCATAG	0.622																																					NSCLC(81;1112 1427 27031 32409 45529)	ENST00000203407.5																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16						c.(949-951)Act>Gct		ubiquinol-cytochrome c reductase core protein I	Atovaquone(DB01117)						52	47	48					3																	48638425		2203	4300	6503	SO:0001583	missense	7384				aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding	g.chr3:48638425T>C	BC009586	CCDS2774.1	3p21	2011-07-04			ENSG00000010256	ENSG00000010256	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	12585	protein-coding gene	gene with protein product		191328				8407948	Standard	NM_003365		Approved	D3S3191, QCR1, UQCR1	uc003cub.1	P31930	OTTHUMG00000133539	ENST00000203407.5:c.949A>G	3.37:g.48638425T>C	ENSP00000203407:p.Thr317Ala						p.T317A	NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	8	1365	-			317					B2R7R8|Q96DD2	Missense_Mutation	SNP	ENST00000203407.5	37	c.949A>G	CCDS2774.1	.	.	.	.	.	.	.	.	.	.	T	13.80	2.345514	0.41498	.	.	ENSG00000010256	ENST00000203407	T	0.10763	2.84	5.72	5.72	0.89469	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.24967	0.0606	L	0.42744	1.35	0.58432	D	0.999997	B;D	0.69078	0.035;0.997	B;D	0.80764	0.057;0.994	T	0.01440	-1.1354	10	0.25106	T	0.35	-26.1093	15.9994	0.80280	0.0:0.0:0.0:1.0	.	202;317	B4DUL5;P31930	.;QCR1_HUMAN	A	317	ENSP00000203407:T317A	ENSP00000203407:T317A	T	-	1	0	UQCRC1	48613429	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	4.094000	0.57721	2.187000	0.69744	0.459000	0.35465	ACT		0.622	UQCRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257517.1	NM_003365		14	26	0	0	0	1	0	14	26					C	48638425	T	C	48638425	3	2	257	1	0	0	0	0	1	0	0	0	17016	1696	59	3	517	3	UQCRC1	3	48638425	Missense_Mutation	SNP	T	TCGA-EL-A4JW-01A-11D-A257-08		48638425	149384005	2	5541											
DOCK3	1795	broad.mit.edu	37	chr3	51418794	51418794	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agggtgcgtcatccctcaggAccccatggacccgcctgcgc	12	17	2	0			TCGA-EL-A4JW-01A-11D-A257-08	TCGA-EL-A4JW-11A-12D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f3ed41c-8506-4db3-b856-ca823d511258	9b411822-8132-4319-a3a5-0600a50a1c7d	g.chr3:51418794A>C	ENST00000266037.9	+	53	5920	c.5897A>C	c.(5896-5898)gAc>gCc	p.D1966A		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1966					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		ATCCCTCAGGACCCCATGGAC	0.677																																						ENST00000266037.9																			0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(5896-5898)gAc>gCc		dedicator of cytokinesis 3							46	54	51					3																	51418794		2130	4233	6363	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51418794A>C	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5897A>C	3.37:g.51418794A>C	ENSP00000266037:p.Asp1966Ala						p.D1966A	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	53	5920	+			1966					O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.5897A>C	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	A	12.79	2.042618	0.35989	.	.	ENSG00000088538	ENST00000266037	T	0.04654	3.58	6.17	6.17	0.99709	.	0.107759	0.64402	D	0.000009	T	0.05273	0.0140	L	0.36672	1.1	0.40513	D	0.980752	B	0.22003	0.063	B	0.22386	0.039	T	0.35151	-0.9800	10	0.08599	T	0.76	.	15.3933	0.74767	1.0:0.0:0.0:0.0	.	1966	Q8IZD9	DOCK3_HUMAN	A	1966	ENSP00000266037:D1966A	ENSP00000266037:D1966A	D	+	2	0	DOCK3	51393834	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.732000	0.62029	2.371000	0.80710	0.533000	0.62120	GAC		0.677	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		9	32	0	0	0	1	0	9	32					C	51418794	A	C	51418794	3	2	257	1	0	0	0	0	1	0	0	0	4688	275	10	5	6107	5	DOCK3	3	51418794	Missense_Mutation	SNP	A	TCGA-EL-A4JW-01A-11D-A257-08	2780369	51418794	146603636	3	5542											
KIAA1257	57501	broad.mit.edu	37	chr3	128706481	128706481	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttatgaaaagctcccacGtcgtctgtgaagccggcagt	11	11	1	2			TCGA-EL-A4JW-01A-11D-A257-08	TCGA-EL-A4JW-11A-12D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f3ed41c-8506-4db3-b856-ca823d511258	9b411822-8132-4319-a3a5-0600a50a1c7d	g.chr3:128706481G>A	ENST00000265068.5	-	4	812	c.645C>T	c.(643-645)gaC>gaT	p.D215D	KIAA1257_ENST00000515659.1_Silent_p.D103D|KIAA1257_ENST00000511438.1_Silent_p.D215D|KIAA1257_ENST00000510149.1_5'UTR	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	215										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						AAGCTCCCACGTCGTCTGTGA	0.428																																						ENST00000265068.5																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						c.(643-645)gaC>gaT		KIAA1257							128	125	126					3																	128706481		1844	4081	5925	SO:0001819	synonymous_variant	57501							g.chr3:128706481G>A	AB033083	CCDS46905.1	3q21.3	2011-11-07			ENSG00000114656	ENSG00000114656			29231	protein-coding gene	gene with protein product						10574462	Standard	NM_020741		Approved		uc003elj.4	Q9ULG3	OTTHUMG00000159946	ENST00000265068.5:c.645C>T	3.37:g.128706481G>A						KIAA1257_ENST00000515659.1_Silent_p.D103D|KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000511438.1_Silent_p.D215D	p.D215D	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN			4	812	-			215					Q8IXY7|Q8N5T4	Silent	SNP	ENST00000265068.5	37	c.645C>T	CCDS46905.1																																																																																				0.428	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000358430.1	NM_020741		5	64	0	0	0	1	0	5	64					A	128706481	G	A	128706481	2	1	257	1	0	0	0	0	0	0	0	1	8218	1136	40	1		1	KIAA1257	3	128706481	Silent	SNP	G	TCGA-EL-A4JW-01A-11D-A257-08	77287687	128706481	69315949	4	5543											
GPR149	344758	broad.mit.edu	37	chr3	154138835	154138835	+	Frame_Shift_Del	DEL	G	G	-													acttttactgtacctgacgaGgggttctttctgatttactc							TCGA-EL-A4JW-01A-11D-A257-08	TCGA-EL-A4JW-11A-12D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f3ed41c-8506-4db3-b856-ca823d511258	9b411822-8132-4319-a3a5-0600a50a1c7d	g.chr3:154138835delG	ENST00000389740.2	-	3	1715	c.1616delC	c.(1615-1617)cctfs	p.P539fs		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	539					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TACCTGACGAGGGGTTCTTTC	0.368																																						ENST00000389740.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47						c.(1615-1617)ctfs		G protein-coupled receptor 149							56	50	52					3																	154138835		1828	4079	5907	SO:0001589	frameshift_variant	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154138835delG	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"GPCR / Class A : Orphans"	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.1616delC	3.37:g.154138835delG	ENSP00000374390:p.Pro539fs						p.P539fs	NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		3	1715	-			539						Frame_Shift_Del	DEL	ENST00000389740.2	37	c.1616delC	CCDS43162.1																																																																																				0.368	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		16	16						16	16	---	---	---	---	-	154138835	G	-	154138835	7	5	257	1	0	1	0	1	0	0	0	0	6654	1000	35	0	587	0	GPR149	3	154138835	Frame_Shift_Del	DEL	G	TCGA-EL-A4JW-01A-11D-A257-08	25432354	154138835	43883595	5	5544											
FAM120B	84498	broad.mit.edu	37	chr6	170627281	170627281	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taacatcatattagctgtgtCagaccatatatcgaaagttc	6	8	2	1			TCGA-EL-A4JW-01A-11D-A257-08	TCGA-EL-A4JW-11A-12D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f3ed41c-8506-4db3-b856-ca823d511258	9b411822-8132-4319-a3a5-0600a50a1c7d	g.chr6:170627281C>T	ENST00000476287.1	+	2	911	c.803C>T	c.(802-804)tCa>tTa	p.S268L	FAM120B_ENST00000537664.1_Missense_Mutation_p.S291L|FAM120B_ENST00000540480.1_Missense_Mutation_p.S280L|FAM120B_ENST00000252510.9_Intron	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	268					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		TTAGCTGTGTCAGACCATATA	0.353																																						ENST00000476287.1																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44						c.(802-804)tCa>tTa		family with sequence similarity 120B							73	80	78					6																	170627281		2202	4300	6502	SO:0001583	missense	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170627281C>T	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"PPARgamma constitutive coactivator 1", "constitutive coactivator of PPAR-gamma"	612266	"KIAA1838"	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.803C>T	6.37:g.170627281C>T	ENSP00000417970:p.Ser268Leu					FAM120B_ENST00000540480.1_Missense_Mutation_p.S280L|FAM120B_ENST00000537664.1_Missense_Mutation_p.S291L|FAM120B_ENST00000252510.9_Intron	p.S268L	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	2	911	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	268					B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	c.803C>T	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.467965	0.63625	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.10099	2.92;2.91;2.93	5.36	5.36	0.76844	.	0.251545	0.38005	N	0.001850	T	0.09202	0.0227	L	0.47716	1.5	0.80722	D	1	P;P	0.43826	0.818;0.818	B;B	0.43082	0.318;0.407	T	0.06481	-1.0824	10	0.44086	T	0.13	-15.9785	19.4494	0.94861	0.0:1.0:0.0:0.0	.	268;268	Q96EK7;F2Z2E1	F120B_HUMAN;.	L	280;291;268	ENSP00000444125:S280L;ENSP00000440125:S291L;ENSP00000417970:S268L	ENSP00000436640:S268L	S	+	2	0	FAM120B	170469206	1.000000	0.71417	0.947000	0.38551	0.957000	0.61999	5.487000	0.66863	2.645000	0.89757	0.650000	0.86243	TCA		0.353	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		8	76	0	0	0	1	0	8	76					T	170627281	C	T	170627281	3	4	257	1	0	0	0	0	1	0	0	0	5417	838	29	2	805	2	FAM120B	6	170627281	Missense_Mutation	SNP	C	TCGA-EL-A4JW-01A-11D-A257-08		170627281	487786	6	5545											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A4JW-01A-11D-A257-08	TCGA-EL-A4JW-11A-12D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f3ed41c-8506-4db3-b856-ca823d511258	9b411822-8132-4319-a3a5-0600a50a1c7d	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		13	48	0	0	0	1	0	13	48					T	140453136	A	T	140453136	3	4	257	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A4JW-01A-11D-A257-08		140453136	18685527	7	5546											
GOT2	2806	broad.mit.edu	37	chr16	58750077	58750077	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatagtgaaggctcctacaCgctcacctgaaagacaaaaa	7	12	1	3			TCGA-EL-A4JW-01A-11D-A257-08	TCGA-EL-A4JW-11A-12D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f3ed41c-8506-4db3-b856-ca823d511258	9b411822-8132-4319-a3a5-0600a50a1c7d	g.chr16:58750077C>A	ENST00000245206.5	-	8	988	c.860G>T	c.(859-861)cGt>cTt	p.R287L	GOT2_ENST00000564400.1_5'UTR|GOT2_ENST00000434819.2_Missense_Mutation_p.R244L	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	287					2-oxoglutarate metabolic process (GO:0006103)|4-hydroxyproline catabolic process (GO:0019470)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid transport (GO:0015908)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|oxaloacetate metabolic process (GO:0006107)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)	GGCTCCTACACGCTCACCTGA	0.428																																						ENST00000245206.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22						c.(859-861)cGt>cTt		glutamic-oxaloacetic transaminase 2, mitochondrial	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						125	114	117					16																	58750077		2198	4300	6498	SO:0001583	missense	2806				aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding	g.chr16:58750077C>A		CCDS10801.1, CCDS67045.1	16q21	2013-05-29	2013-05-29		ENSG00000125166	ENSG00000125166	2.6.1.1		4433	protein-coding gene	gene with protein product	"kynurenine aminotransferase IV", "aspartate aminotransferase 2", "aspartate transaminase 2"	138150	"glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)"			17442055	Standard	NM_002080		Approved	mitAAT, KATIV, KAT4	uc002eof.1	P00505	OTTHUMG00000133769	ENST00000245206.5:c.860G>T	16.37:g.58750077C>A	ENSP00000245206:p.Arg287Leu					GOT2_ENST00000564400.1_5'UTR|GOT2_ENST00000434819.2_Missense_Mutation_p.R244L	p.R287L	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN			8	988	-			287					B4DJA6|E7ERW2|Q53FL3|Q9BWA3	Missense_Mutation	SNP	ENST00000245206.5	37	c.860G>T	CCDS10801.1	.	.	.	.	.	.	.	.	.	.	C	33	5.237324	0.95240	.	.	ENSG00000125166	ENST00000245206;ENST00000434819	D;D	0.98249	-4.82;-4.82	5.32	5.32	0.75619	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.99369	0.9778	H	0.97023	3.925	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.995;0.999	D	0.98595	1.0656	9	.	.	.	4.689	18.3515	0.90339	0.0:1.0:0.0:0.0	.	244;287	E7ERW2;P00505	.;AATM_HUMAN	L	287;244	ENSP00000245206:R287L;ENSP00000394100:R244L	.	R	-	2	0	GOT2	57307578	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.471000	0.80985	2.662000	0.90505	0.591000	0.81541	CGT		0.428	GOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258289.3			20	46	1	0	4.96729e-08	1	5.48115e-08	20	46					A	58750077	C	A	58750077	3	1	257	1	0	0	0	0	1	0	0	0	6581	536	19	4	444	4	GOT2	16	58750077	Missense_Mutation	SNP	C	TCGA-EL-A4JW-01A-11D-A257-08		58750077	31604676	8	5547											
CELF5	60680	broad.mit.edu	37	chr19	3281319	3281319	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccctcacattgcccttcagCccctacagtgcctacgccca	5	20	2	0			TCGA-EL-A4JW-01A-11D-A257-08	TCGA-EL-A4JW-11A-12D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f3ed41c-8506-4db3-b856-ca823d511258	9b411822-8132-4319-a3a5-0600a50a1c7d	g.chr19:3281319C>G	ENST00000292672.2	+	6	763	c.726C>G	c.(724-726)agC>agG	p.S242R	CELF5_ENST00000541430.2_Missense_Mutation_p.S242R	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	242					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						TGCCCTTCAGCCCCTACAGTG	0.642																																						ENST00000541430.2																			0				kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						c.(724-726)agC>agG		CUGBP, Elav-like family member 5							98	87	90					19																	3281319		2203	4300	6503	SO:0001583	missense	60680				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:3281319C>G	AF248649	CCDS12106.1, CCDS54197.1	19p13	2013-02-12	2010-02-19	2010-02-19		ENSG00000161082		"RNA binding motif (RRM) containing"	14058	protein-coding gene	gene with protein product		612680	"Bruno (Drosophila) -like 5, RNA binding protein", "bruno-like 5, RNA binding protein (Drosophila)"	BRUNOL5		10893231	Standard	NM_001172673		Approved		uc002lxm.3	Q8N6W0		ENST00000292672.2:c.726C>G	19.37:g.3281319C>G	ENSP00000292672:p.Ser242Arg					CELF5_ENST00000292672.2_Missense_Mutation_p.S242R	p.S242R	NM_001172673.1	NP_001166144.1	Q8N6W0	CELF5_HUMAN			6	762	+			242					D6W614|O75253|Q59GP2|Q86VW6|Q9BZC0|Q9NR86	Missense_Mutation	SNP	ENST00000292672.2	37	c.726C>G	CCDS12106.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442570	0.63067	.	.	ENSG00000161082	ENST00000292672;ENST00000541430;ENST00000334293	T;T;T	0.28255	2.35;1.77;1.62	3.46	2.39	0.29439	.	0.153984	0.56097	D	0.000023	T	0.43389	0.1245	L	0.59436	1.845	0.39926	D	0.97422	P;D;B	0.71674	0.725;0.998;0.006	B;D;B	0.66847	0.391;0.947;0.005	T	0.42949	-0.9421	10	0.72032	D	0.01	-6.7708	6.3239	0.21232	0.0:0.762:0.0:0.2379	.	128;242;242	B4DFI3;Q8N6W0-2;Q8N6W0	.;.;CELF5_HUMAN	R	242;242;128	ENSP00000292672:S242R;ENSP00000443498:S242R;ENSP00000335182:S128R	ENSP00000292672:S242R	S	+	3	2	CELF5	3232319	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.603000	0.36794	1.655000	0.50712	0.313000	0.20887	AGC		0.642	CELF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452574.1	NM_021938		14	71	0	0	0	1	0	14	71					G	3281319	C	G	3281319	3	3	257	1	0	0	0	0	1	0	0	0	3219	738	26	4	748	4	CELF5	19	3281319	Missense_Mutation	SNP	C	TCGA-EL-A4JW-01A-11D-A257-08		3281319	55847664	9	5548											
RPL18A	6142	broad.mit.edu	37	chr19	17973820	17973820	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaagtgccgccggccggCtgtcaagcagttccacgtga	13	14	1	1			TCGA-EL-A4JW-01A-11D-A257-08	TCGA-EL-A4JW-11A-12D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f3ed41c-8506-4db3-b856-ca823d511258	9b411822-8132-4319-a3a5-0600a50a1c7d	g.chr19:17973820C>T	ENST00000222247.5	+	4	503	c.422C>T	c.(421-423)gCt>gTt	p.A141V	RPL18A_ENST00000600147.1_Splice_Site|SNORA68_ENST00000384437.1_RNA|RPL18A_ENST00000599870.1_Missense_Mutation_p.A112V|RPL18A_ENST00000599898.1_Missense_Mutation_p.A102V	NM_000980.3	NP_000971.1	Q02543	RL18A_HUMAN	ribosomal protein L18a	141					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						CGCCGGCCGGCTGTCAAGCAG	0.677																																						ENST00000599870.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						c.(334-336)gCt>gTt		ribosomal protein L18a							20	23	22					19																	17973820		2202	4299	6501	SO:0001583	missense	6142				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr19:17973820C>T	AB007175	CCDS12367.1	19p13.11	2011-04-06			ENSG00000105640	ENSG00000105640		"L ribosomal proteins"	10311	protein-coding gene	gene with protein product	"60S ribosomal protein L18a", "ribosomal protein L18a-like protein"	604178				9582194	Standard	NM_000980		Approved	L18A	uc002nhp.3	Q02543		ENST00000222247.5:c.422C>T	19.37:g.17973820C>T	ENSP00000222247:p.Ala141Val					RPL18A_ENST00000600147.1_Splice_Site|RPL18A_ENST00000599898.1_Missense_Mutation_p.A102V|RPL18A_ENST00000222247.5_Missense_Mutation_p.A141V	p.A112V			Q02543	RL18A_HUMAN			3	934	+			141						Missense_Mutation	SNP	ENST00000222247.5	37	c.335C>T	CCDS12367.1	.	.	.	.	.	.	.	.	.	.	C	8.734	0.917319	0.17982	.	.	ENSG00000105640	ENST00000222247	.	.	.	4.71	4.71	0.59529	.	0.055575	0.64402	D	0.000001	T	0.60090	0.2242	M	0.64997	1.995	0.80722	D	1	B	0.17268	0.021	B	0.22601	0.04	T	0.57027	-0.7881	8	.	.	.	.	15.5239	0.75887	0.0:1.0:0.0:0.0	.	141	Q02543	RL18A_HUMAN	V	141	.	.	A	+	2	0	RPL18A	17834820	1.000000	0.71417	0.265000	0.24526	0.175000	0.22909	7.688000	0.84153	2.337000	0.79520	0.460000	0.39030	GCT		0.677	RPL18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466679.1	NM_000980		15	21	0	0	0	1	0	15	21					T	17973820	C	T	17973820	3	4	257	1	0	0	0	0	1	0	0	0	13565	797	28	2	436	2	RPL18A	19	17973820	Missense_Mutation	SNP	C	TCGA-EL-A4JW-01A-11D-A257-08	14692501	17973820	41155163	10	5549											
SLC6A8	6535	broad.mit.edu	37	chrX	152957468	152957468	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctgggggactggaggtgcCaggggccctcaactgggagg	20	9	2	0			TCGA-EL-A4JW-01A-11D-A257-08	TCGA-EL-A4JW-11A-12D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f3ed41c-8506-4db3-b856-ca823d511258	9b411822-8132-4319-a3a5-0600a50a1c7d	g.chrX:152957468C>A	ENST00000253122.5	+	4	1159	c.683C>A	c.(682-684)cCa>cAa	p.P228Q	SLC6A8_ENST00000430077.2_Missense_Mutation_p.P113Q	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	228					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	CTGGAGGTGCCAGGGGCCCTC	0.612																																						ENST00000253122.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(682-684)cCa>cAa		solute carrier family 6 (neurotransmitter transporter), member 8	Creatine(DB00148)						31	22	26					X																	152957468		2197	4283	6480	SO:0001583	missense	6535				creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chrX:152957468C>A		CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"Solute carriers"	11055	protein-coding gene	gene with protein product	"creatine transporter"	300036	"solute carrier family 6 (neurotransmitter transporter, creatine), member 8"			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.683C>A	X.37:g.152957468C>A	ENSP00000253122:p.Pro228Gln					SLC6A8_ENST00000430077.2_Missense_Mutation_p.P113Q	p.P228Q	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN			4	1159	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		228					B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Missense_Mutation	SNP	ENST00000253122.5	37	c.683C>A	CCDS14726.1	.	.	.	.	.	.	.	.	.	.	c	15.61	2.885353	0.51908	.	.	ENSG00000130821	ENST00000253122;ENST00000430077	T;T	0.75938	-0.98;-0.98	4.09	4.09	0.47781	.	.	.	.	.	T	0.68851	0.3046	L	0.58810	1.83	0.36146	D	0.847109	B;P;B	0.35139	0.129;0.486;0.131	B;B;B	0.36030	0.091;0.216;0.091	T	0.75510	-0.3292	9	0.54805	T	0.06	.	8.4116	0.32646	0.0:0.8861:0.0:0.1139	.	228;247;228	D3DWV2;Q59EV7;P48029	.;.;SC6A8_HUMAN	Q	228;113	ENSP00000253122:P228Q;ENSP00000403041:P113Q	ENSP00000253122:P228Q	P	+	2	0	SLC6A8	152610662	0.003000	0.15002	0.990000	0.47175	0.982000	0.71751	0.986000	0.29590	1.878000	0.54408	0.529000	0.55759	CCA		0.612	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061003.1			11	15	1	0	5.50884e-06	1	5.87609e-06	11	15					A	152957468	C	A	152957468	3	1	257	1	0	0	0	0	1	0	0	0	14690	594	21	4	697	4	SLC6A8	23	152957468	Missense_Mutation	SNP	C	TCGA-EL-A4JW-01A-11D-A257-08		152957468	2313092	11	5550											
SYF2	25949	broad.mit.edu	37	chr1	25553932	25553934	+	Splice_Site	DEL	CTG	CTG	-													tcaggttgaaaaaggacttaCtgtttttctctcagtctctc							TCGA-EL-A4JX-01A-12D-A257-08	TCGA-EL-A4JX-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd	7edd3289-ff98-4237-a5bf-a3ece719e294	g.chr1:25553932_25553934delCTG	ENST00000236273.4	-	5	491_493	c.466_468delCAG	c.(466-468)cagdel	p.Q156del	SYF2_ENST00000354361.3_Splice_Site_p.Q114del|SYF2_ENST00000476231.1_5'Flank	NM_015484.4	NP_056299.1	O95926	SYF2_HUMAN	SYF2 pre-mRNA-splicing factor	156					embryonic organ development (GO:0048568)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|mitotic G2 DNA damage checkpoint (GO:0007095)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(4)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)		AAAGGACTTACTGTTTTTCTCTC	0.384																																						ENST00000236273.4																			0				kidney(1)|large_intestine(1)|lung(4)	6						c.e5+1		SYF2 pre-mRNA-splicing factor																																				SO:0001630	splice_region_variant	25949					catalytic step 2 spliceosome		g.chr1:25553932_25553934delCTG	AF273089	CCDS258.1, CCDS259.1	1p36.11	2013-08-21	2013-08-21	2005-09-14	ENSG00000117614	ENSG00000117614			19824	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 29"	607090	"CCNDBP1 interactor", "SYF2 homolog, RNA splicing factor (S. cerevisiae)"	CBPIN		11118353	Standard	NM_207170		Approved	p29, DKFZp564O2082, NTC31, fSAP29	uc001bjt.1	O95926	OTTHUMG00000043610	ENST00000236273.4:c.467+1CAG>-	1.37:g.25553932_25553934delCTG						SYF2_ENST00000354361.3_Splice_Site_p.114_splice	p.156_splice	NM_015484.4	NP_056299.1	O95926	SYF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)	5	491_493	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	156					Q5TH73	Splice_Site	DEL	ENST00000236273.4	37	c.467_splice	CCDS259.1																																																																																				0.384	SYF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000101962.1	NM_015484	In_Frame_Del	9	98						9	98	---	---	---	---	-	25553934	CTG	-	25553932	8	5	258	1	0	1	0	1	0	0	1	0	15434	579	20	0	275	0	SYF2	1	25553932	Splice_Site	DEL	CTG	TCGA-EL-A4JX-01A-12D-A257-08		25553932	223696689	1	5551											
PELI1	57162	broad.mit.edu	37	chr2	64323399	64323399	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacaagaacaccattagtggTcaagccatccatctgtccat	6	13	2	1			TCGA-EL-A4JX-01A-12D-A257-08	TCGA-EL-A4JX-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd	7edd3289-ff98-4237-a5bf-a3ece719e294	g.chr2:64323399T>C	ENST00000358912.4	-	6	992	c.550A>G	c.(550-552)Acc>Gcc	p.T184A		NM_020651.3	NP_065702.2	Q96FA3	PELI1_HUMAN	pellino E3 ubiquitin protein ligase 1	184					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|protein K48-linked ubiquitination (GO:0070936)|response to dsRNA (GO:0043331)|response to lipopolysaccharide (GO:0032496)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						CCATTAGTGGTCAAGCCATCC	0.428																																						ENST00000358912.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						c.(550-552)Acc>Gcc		pellino E3 ubiquitin protein ligase 1							145	132	137					2																	64323399		2203	4300	6503	SO:0001583	missense	57162				innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol		g.chr2:64323399T>C		CCDS1876.1	2p13.3	2012-02-23	2012-02-23		ENSG00000197329	ENSG00000197329		"Pellino homologs"	8827	protein-coding gene	gene with protein product		614797	"pellino (Drosophila) homolog 1", "pellino homolog 1 (Drosophila)"			11306823, 16951688	Standard	NM_020651		Approved		uc002sct.4	Q96FA3	OTTHUMG00000129511	ENST00000358912.4:c.550A>G	2.37:g.64323399T>C	ENSP00000351789:p.Thr184Ala						p.T184A	NM_020651.3	NP_065702.2	Q96FA3	PELI1_HUMAN			6	992	-			184					Q96SM0|Q9GZY5|Q9HCX0	Missense_Mutation	SNP	ENST00000358912.4	37	c.550A>G	CCDS1876.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.627442	0.87560	.	.	ENSG00000197329	ENST00000358912	T	0.57436	0.4	5.65	5.65	0.86999	.	0.134439	0.64402	D	0.000002	T	0.75961	0.3921	M	0.89095	3.005	0.58432	D	0.999999	D	0.65815	0.995	D	0.66497	0.944	T	0.80353	-0.1418	10	0.56958	D	0.05	-11.7071	16.1778	0.81874	0.0:0.0:0.0:1.0	.	184	Q96FA3	PELI1_HUMAN	A	184	ENSP00000351789:T184A	ENSP00000351789:T184A	T	-	1	0	PELI1	64176903	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.997000	0.88414	2.279000	0.76181	0.533000	0.62120	ACC		0.428	PELI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251686.1	NM_020651		5	66	0	0	0	1	0	5	66					C	64323399	T	C	64323399	3	2	258	1	0	0	0	0	1	0	0	0	11721	1667	58	3	714	3	PELI1	2	64323399	Missense_Mutation	SNP	T	TCGA-EL-A4JX-01A-12D-A257-08		64323399	178875974	2	5552											
MAN1A1	4121	broad.mit.edu	37	chr6	119569448	119569448	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcatattcagcaatgcccaAggtattccagagggagtatg	10	8	2	1			TCGA-EL-A4JX-01A-12D-A257-08	TCGA-EL-A4JX-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd	7edd3289-ff98-4237-a5bf-a3ece719e294	g.chr6:119569448A>C	ENST00000368468.3	-	6	1410	c.969T>G	c.(967-969)ccT>ccG	p.P323P	MAN1A1_ENST00000368466.2_Silent_p.P346P	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	323					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		GCAATGCCCAAGGTATTCCAG	0.343																																					Ovarian(136;8 1825 12608 33541 47587)	ENST00000368468.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24						c.(967-969)ccT>ccG		mannosidase, alpha, class 1A, member 1							92	89	90					6																	119569448		2203	4300	6503	SO:0001819	synonymous_variant	4121				post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr6:119569448A>C	AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.969T>G	6.37:g.119569448A>C						MAN1A1_ENST00000368466.2_Silent_p.P346P	p.P323P	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)	6	1410	-		all_epithelial(87;0.173)	323					E7EU32|Q6P052|Q9NU44|Q9UJI3	Silent	SNP	ENST00000368468.3	37	c.969T>G	CCDS5122.1																																																																																				0.343	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042015.1	NM_005907		10	29	0	0	0	1	0	10	29					C	119569448	A	C	119569448	2	2	258	1	0	0	0	0	0	0	0	1	9210	59	3	5		5	MAN1A1	6	119569448	Silent	SNP	A	TCGA-EL-A4JX-01A-12D-A257-08		119569448	51545619	3	5553											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A4JX-01A-12D-A257-08	TCGA-EL-A4JX-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd	7edd3289-ff98-4237-a5bf-a3ece719e294	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		11	56	0	0	0	1	0	11	56					T	140453136	A	T	140453136	3	4	258	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A4JX-01A-12D-A257-08		140453136	18685527	4	5554											
AGPAT6	137964	broad.mit.edu	37	chr8	41470441	41470441	+	Silent	SNP	G	G	A													tgcccacacgtctggtttgaGcgctcggaagtgaaggatcg					rs371903817		TCGA-EL-A4JX-01A-12D-A257-08	TCGA-EL-A4JX-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd	7edd3289-ff98-4237-a5bf-a3ece719e294	g.chr8:41470441G>A	ENST00000396987.3	+	8	1800	c.873G>A	c.(871-873)gaG>gaA	p.E291E	RP11-360L9.8_ENST00000581909.1_RNA	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	291					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|fatty acid metabolic process (GO:0006631)|glandular epithelial cell maturation (GO:0002071)|glycerophospholipid biosynthetic process (GO:0046474)|lactation (GO:0007595)|lipid biosynthetic process (GO:0008610)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of multicellular organism growth (GO:0040014)|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)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			TCTGGTTTGAGCGCTCGGAAG	0.547											OREG0018739	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000396987.3																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14						c.(871-873)gaG>gaA		1-acylglycerol-3-phosphate O-acyltransferase 6							105	77	87					8																	41470441		2203	4300	6503	SO:0001819	synonymous_variant	137964				acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity	g.chr8:41470441G>A	AF406612	CCDS6117.1	8p11.21	2013-02-05	2013-02-05			ENSG00000158669	2.3.1.15	"1-acylglycerol-3-phosphate O-acyltransferases"	20880	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, zeta"	608143	"1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta)"			12938015	Standard	NM_178819		Approved	DKFZp586M1819, LPAAT-zeta	uc003xnz.2	Q86UL3		ENST00000396987.3:c.873G>A	8.37:g.41470441G>A			OREG0018739	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	901	RP11-360L9.8_ENST00000581909.1_RNA	p.E291E	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)		8	1800	+	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	291					Q86V89	Silent	SNP	ENST00000396987.3	37	c.873G>A	CCDS6117.1																																																																																				0.547	AGPAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377158.1	NM_178819		5	14	0	0	0	1	0	5	14					A	41470441	G	A	41470441	2	1	258	1	0	0	0	0	0	0	0	1	391	962	34	2		2	AGPAT6	8	41470441	Silent	SNP	G	TCGA-EL-A4JX-01A-12D-A257-08		41470441	104893581	5	5555	27	2									
AGPAT6	137964	broad.mit.edu	37	chr8	41470442	41470442	+	Missense_Mutation	SNP	C	C	T													gcccacacgtctggtttgagCgctcggaagtgaaggatcgc							TCGA-EL-A4JX-01A-12D-A257-08	TCGA-EL-A4JX-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd	7edd3289-ff98-4237-a5bf-a3ece719e294	g.chr8:41470442C>T	ENST00000396987.3	+	8	1801	c.874C>T	c.(874-876)Cgc>Tgc	p.R292C	RP11-360L9.8_ENST00000581909.1_RNA	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	292					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|fatty acid metabolic process (GO:0006631)|glandular epithelial cell maturation (GO:0002071)|glycerophospholipid biosynthetic process (GO:0046474)|lactation (GO:0007595)|lipid biosynthetic process (GO:0008610)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of multicellular organism growth (GO:0040014)|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)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			CTGGTTTGAGCGCTCGGAAGT	0.552											OREG0018739	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000396987.3																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14						c.(874-876)Cgc>Tgc		1-acylglycerol-3-phosphate O-acyltransferase 6							104	77	86					8																	41470442		2203	4300	6503	SO:0001583	missense	137964				acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity	g.chr8:41470442C>T	AF406612	CCDS6117.1	8p11.21	2013-02-05	2013-02-05			ENSG00000158669	2.3.1.15	"1-acylglycerol-3-phosphate O-acyltransferases"	20880	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, zeta"	608143	"1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta)"			12938015	Standard	NM_178819		Approved	DKFZp586M1819, LPAAT-zeta	uc003xnz.2	Q86UL3		ENST00000396987.3:c.874C>T	8.37:g.41470442C>T	ENSP00000380184:p.Arg292Cys		OREG0018739	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	901	RP11-360L9.8_ENST00000581909.1_RNA	p.R292C	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)		8	1801	+	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	292					Q86V89	Missense_Mutation	SNP	ENST00000396987.3	37	c.874C>T	CCDS6117.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727164	0.89390	.	.	ENSG00000158669	ENST00000396987	D	0.99214	-5.57	5.3	5.3	0.74995	Phospholipid/glycerol acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.99569	0.9845	M	0.94142	3.5	0.80722	D	1	D	0.69078	0.997	D	0.66979	0.948	D	0.98154	1.0443	10	0.87932	D	0	.	18.1301	0.89598	0.0:1.0:0.0:0.0	.	292	Q86UL3	GPAT4_HUMAN	C	292	ENSP00000380184:R292C	ENSP00000380184:R292C	R	+	1	0	AGPAT6	41589599	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	5.793000	0.69060	2.769000	0.95229	0.655000	0.94253	CGC		0.552	AGPAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377158.1	NM_178819		5	14	0	0	0	1	0	5	14					T	41470442	C	T	41470442	3	4	258	1	0	0	0	0	1	0	0	0	391	768	27	1	900	1	AGPAT6	8	41470442	Missense_Mutation	SNP	C	TCGA-EL-A4JX-01A-12D-A257-08	1	41470442	104893580	6	5556	27	2									
TNNT3	7140	broad.mit.edu	37	chr11	1956128	1956128	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aagttcgagtttggggagaaGctgaaacgccagaaatatga	13	5	0	4			TCGA-EL-A4JX-01A-12D-A257-08	TCGA-EL-A4JX-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd	7edd3289-ff98-4237-a5bf-a3ece719e294	g.chr11:1956128G>C	ENST00000397301.1	+	15	701	c.693G>C	c.(691-693)aaG>aaC	p.K231N	TNNT3_ENST00000397304.2_Missense_Mutation_p.K201N|TNNT3_ENST00000381589.3_Missense_Mutation_p.K218N|TNNT3_ENST00000381561.4_Missense_Mutation_p.K223N|TNNT3_ENST00000381558.1_Missense_Mutation_p.K212N|TNNT3_ENST00000278317.6_Missense_Mutation_p.K220N|TNNT3_ENST00000381549.3_Missense_Mutation_p.K212N|TNNT3_ENST00000446240.1_Missense_Mutation_p.K201N|TNNT3_ENST00000381579.3_Missense_Mutation_p.K212N|TNNT3_ENST00000360603.3_Missense_Mutation_p.K214N|TNNT3_ENST00000381548.3_Missense_Mutation_p.K222N|TNNT3_ENST00000493234.1_3'UTR			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	231					ATP catabolic process (GO:0006200)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of striated muscle contraction (GO:0006942)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium-dependent protein binding (GO:0048306)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		TTGGGGAGAAGCTGAAACGCC	0.612																																						ENST00000381558.1																			0				breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19						c.(634-636)aaG>aaC		troponin T type 3 (skeletal, fast)							132	136	134					11																	1956128		2202	4299	6501	SO:0001583	missense	7140				muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding	g.chr11:1956128G>C	M21984	CCDS7727.1, CCDS41594.1, CCDS41595.1, CCDS41596.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130595	ENSG00000130595			11950	protein-coding gene	gene with protein product	"troponin-T3, skeletal, fast"	600692	"troponin T3, skeletal, fast"			8172653	Standard	NM_001042782		Approved	AMCD2B, DA2B, FSSV, DKFZp779M2348	uc001lup.4	P45378	OTTHUMG00000012475	ENST00000397301.1:c.693G>C	11.37:g.1956128G>C	ENSP00000380468:p.Lys231Asn					TNNT3_ENST00000360603.3_Missense_Mutation_p.K214N|TNNT3_ENST00000381548.3_Missense_Mutation_p.K222N|TNNT3_ENST00000381561.4_Missense_Mutation_p.K223N|TNNT3_ENST00000446240.1_Missense_Mutation_p.K201N|TNNT3_ENST00000381579.3_Missense_Mutation_p.K212N|TNNT3_ENST00000397301.1_Missense_Mutation_p.K231N|TNNT3_ENST00000278317.6_Missense_Mutation_p.K220N|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000397304.2_Missense_Mutation_p.K201N|TNNT3_ENST00000381589.3_Missense_Mutation_p.K218N|TNNT3_ENST00000381549.3_Missense_Mutation_p.K212N	p.K212N			P45378	TNNT3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)	13	915	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	231					A8MQ76|A8MSW1|B3KPX3|B7WP64|B7ZL26|B7ZVV9|Q12975|Q12976|Q12977|Q12978|Q17RG9|Q6FH29|Q6N056|Q86TH6	Missense_Mutation	SNP	ENST00000397301.1	37	c.636G>C		.	.	.	.	.	.	.	.	.	.	.	13.21	2.169166	0.38315	.	.	ENSG00000130595	ENST00000278317;ENST00000397309;ENST00000381561;ENST00000381548;ENST00000360603;ENST00000381549;ENST00000381589;ENST00000381579;ENST00000381557;ENST00000453458;ENST00000381563;ENST00000344578;ENST00000381558;ENST00000397301;ENST00000397304;ENST00000446240	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34	4.28	1.25	0.21368	.	0.096661	0.64402	D	0.000002	D	0.90665	0.7072	M	0.82517	2.595	0.48288	D	0.999622	D;D;D;D;P	0.56035	0.974;0.974;0.974;0.974;0.956	P;P;P;P;P	0.56700	0.804;0.735;0.804;0.804;0.641	D	0.89491	0.3757	10	0.54805	T	0.06	-12.8892	10.4399	0.44460	0.3021:0.0:0.6979:0.0	.	220;212;218;212;231	P45378-2;P45378-7;P45378-6;P45378-4;P45378	.;.;.;.;TNNT3_HUMAN	N	220;232;223;222;214;212;218;212;206;201;223;207;212;231;201;201	ENSP00000278317:K220N;ENSP00000370973:K223N;ENSP00000370960:K222N;ENSP00000353815:K214N;ENSP00000370961:K212N;ENSP00000371001:K218N;ENSP00000370991:K212N;ENSP00000370969:K206N;ENSP00000415614:K201N;ENSP00000370975:K223N;ENSP00000344870:K207N;ENSP00000370970:K212N;ENSP00000380468:K231N;ENSP00000380471:K201N;ENSP00000413203:K201N	ENSP00000278317:K220N	K	+	3	2	TNNT3	1912704	1.000000	0.71417	1.000000	0.80357	0.268000	0.26511	0.737000	0.26144	0.384000	0.24942	0.313000	0.20887	AAG		0.612	TNNT3-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000142920.3	NM_006757		31	108	0	0	0	1	0	31	108					C	1956128	G	C	1956128	3	2	258	1	0	0	0	0	1	0	0	0	16329	962	34	4	751	4	TNNT3	11	1956128	Missense_Mutation	SNP	G	TCGA-EL-A4JX-01A-12D-A257-08		1956128	133050388	7	5557											
GJA3	2700	broad.mit.edu	37	chr13	20716349	20716349	+	Frame_Shift_Del	DEL	G	G	-													cagcctcgtgcgcgagtggcGgggagctgctgccgacgggg							TCGA-EL-A4JX-01A-12D-A257-08	TCGA-EL-A4JX-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd	7edd3289-ff98-4237-a5bf-a3ece719e294	g.chr13:20716349delG	ENST00000241125.3	-	2	1255	c.1079delC	c.(1078-1080)ccgfs	p.P361fs		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	361					cell-cell signaling (GO:0007267)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		CGCGAGTGGCGGGGAGCTGCT	0.766																																						ENST00000241125.3																			0				NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						c.(1078-1080)cgfs		gap junction protein, alpha 3, 46kDa							2	4	3					13																	20716349		1618	3343	4961	SO:0001589	frameshift_variant	2700				cell-cell signaling|visual perception	connexon complex|integral to membrane		g.chr13:20716349delG	AF075290	CCDS9289.1	13q12.11	2008-02-05	2007-01-16		ENSG00000121743	ENSG00000121743		"Ion channels / Gap junction proteins (connexins)"	4277	protein-coding gene	gene with protein product	"connexin 46"	121015	"gap junction protein, alpha 3, 46kD (connexin 46)", "gap junction protein, alpha 3, 46kDa (connexin 46)"	CZP3		10205266, 7342922	Standard	NM_021954		Approved	CX46	uc001umx.1	Q9Y6H8	OTTHUMG00000016510	ENST00000241125.3:c.1079delC	13.37:g.20716349delG	ENSP00000241125:p.Pro361fs						p.P361fs	NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)	2	1255	-		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)	361					Q0VAB7|Q9H537	Frame_Shift_Del	DEL	ENST00000241125.3	37	c.1079delC	CCDS9289.1																																																																																				0.766	GJA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044059.3	NM_021954		2	4						2	4	---	---	---	---	-	20716349	G	-	20716349	7	5	258	1	0	1	0	1	0	0	0	0	6402	1116	39	0	232	0	GJA3	13	20716349	Frame_Shift_Del	DEL	G	TCGA-EL-A4JX-01A-12D-A257-08		20716349	94453529	8	5558											
KRT9	3857	broad.mit.edu	37	chr17	39725743	39725743	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgctcatactcctgacGcatgtcattgagggtcttgg	12	10	3	2			TCGA-EL-A4JX-01A-12D-A257-08	TCGA-EL-A4JX-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd	7edd3289-ff98-4237-a5bf-a3ece719e294	g.chr17:39725743G>A	ENST00000246662.4	-	4	1044	c.979C>T	c.(979-981)Cgt>Tgt	p.R327C	KRT9_ENST00000588431.1_Missense_Mutation_p.R94C	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	327	Coil 2.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				TACTCCTGACGCATGTCATTG	0.502																																						ENST00000246662.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(979-981)Cgt>Tgt		keratin 9							216	174	188					17																	39725743		2203	4300	6503	SO:0001583	missense	3857				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	g.chr17:39725743G>A		CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"-", "Intermediate filaments type I, keratins (acidic)"	6447	protein-coding gene	gene with protein product	"cytokeratin 9", "type I cytoskeletal 9", "epidermolytic palmoplantar keratoderma"	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.979C>T	17.37:g.39725743G>A	ENSP00000246662:p.Arg327Cys					KRT9_ENST00000588431.1_Missense_Mutation_p.R94C	p.R327C	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN			4	1044	-		Breast(137;0.000307)	327			Coil 2.|Rod.		O00109|Q0IJ47|Q14665	Missense_Mutation	SNP	ENST00000246662.4	37	c.979C>T	CCDS32654.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163226	0.38217	.	.	ENSG00000171403	ENST00000246662	D	0.93426	-3.22	4.25	3.25	0.37280	Filament (1);	.	.	.	.	D	0.94248	0.8153	H	0.96996	3.92	0.39645	D	0.970389	D	0.54207	0.965	B	0.40901	0.343	D	0.94494	0.7704	9	0.87932	D	0	.	6.4217	0.21748	0.0984:0.0:0.5989:0.3027	.	327	P35527	K1C9_HUMAN	C	327	ENSP00000246662:R327C	ENSP00000246662:R327C	R	-	1	0	KRT9	36979269	1.000000	0.71417	0.658000	0.29665	0.276000	0.26787	1.819000	0.39022	1.887000	0.54652	0.561000	0.74099	CGT		0.502	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257707.1	NM_000226		9	47	0	0	0	1	0	9	47					A	39725743	G	A	39725743	3	1	258	1	0	0	0	0	1	0	0	0	8501	1087	38	1	908	1	KRT9	17	39725743	Missense_Mutation	SNP	G	TCGA-EL-A4JX-01A-12D-A257-08		39725743	41469467	9	5559											
GPR4	2828	broad.mit.edu	37	chr19	46094655	46094655	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtagcggtctcggaagagcTcgtcatggaacaggggcgcc	16	10	2	1			TCGA-EL-A4JX-01A-12D-A257-08	TCGA-EL-A4JX-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd	7edd3289-ff98-4237-a5bf-a3ece719e294	g.chr19:46094655T>A	ENST00000323040.4	-	2	1414	c.470A>T	c.(469-471)gAg>gTg	p.E157V	GPR4_ENST00000591614.1_5'Flank|OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	157					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)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		TCGGAAGAGCTCGTCATGGAA	0.652																																					Esophageal Squamous(117;181 1612 1673 14956 42937)	ENST00000323040.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(469-471)gAg>gTg		G protein-coupled receptor 4							59	60	60					19																	46094655		2203	4300	6503	SO:0001583	missense	2828					integral to plasma membrane	G-protein coupled receptor activity	g.chr19:46094655T>A	BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"GPCR / Class A : Orphans"	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.470A>T	19.37:g.46094655T>A	ENSP00000319744:p.Glu157Val					OPA3_ENST00000544371.1_Intron	p.E157V	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)	2	1414	-			157					A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	ENST00000323040.4	37	c.470A>T	CCDS12669.1	.	.	.	.	.	.	.	.	.	.	T	19.95	3.921780	0.73213	.	.	ENSG00000177464	ENST00000323040	T	0.72282	-0.64	5.23	5.23	0.72850	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000004	T	0.76307	0.3969	L	0.45285	1.41	0.42849	D	0.994078	D	0.71674	0.998	D	0.72625	0.978	T	0.77664	-0.2503	10	0.56958	D	0.05	.	9.3319	0.38027	0.0:0.0:0.1807:0.8193	.	157	P46093	GPR4_HUMAN	V	157	ENSP00000319744:E157V	ENSP00000319744:E157V	E	-	2	0	GPR4	50786495	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.994000	0.56994	1.978000	0.57642	0.374000	0.22700	GAG		0.652	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1	NM_005282		11	85	0	0	0	1	0	11	85					A	46094655	T	A	46094655	3	1	258	1	0	0	0	0	1	0	0	0	6694	1551	54	5	622	5	GPR4	19	46094655	Missense_Mutation	SNP	T	TCGA-EL-A4JX-01A-12D-A257-08		46094655	13034328	10	5560											
LAIR2	3904	broad.mit.edu	37	chr19	55020248	55020248	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctgcccctgtttacagaaaGctctggaggcccggactccc	10	16	1	1	rs12949		TCGA-EL-A4JX-01A-12D-A257-08	TCGA-EL-A4JX-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd	7edd3289-ff98-4237-a5bf-a3ece719e294	g.chr19:55020248G>C	ENST00000301202.2	+	4	490	c.368G>C	c.(367-369)aGc>aCc	p.S123T	LAIR2_ENST00000351841.2_Intron	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	123						extracellular region (GO:0005576)		p.S123T(1)		central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		TTTACAGAAAGCTCTGGAGGC	0.627																																						ENST00000301202.2																			1	Substitution - Missense(1)	p.S123T(1)	kidney(1)	central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18						c.(367-369)aGc>aCc		leukocyte-associated immunoglobulin-like receptor 2							54	63	60					19																	55020248		2127	4276	6403	SO:0001583	missense	3904					extracellular region	receptor activity	g.chr19:55020248G>C	AF013250	CCDS12897.1, CCDS12898.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167618	ENSG00000167618		"Leukocyte-associated Ig like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6478	protein-coding gene	gene with protein product		602993	"leukocyte-associated Ig-like receptor 2"			9285412	Standard	XM_005277264		Approved	CD306	uc002qgc.3	Q6ISS4	OTTHUMG00000065697	ENST00000301202.2:c.368G>C	19.37:g.55020248G>C	ENSP00000301202:p.Ser123Thr					LAIR2_ENST00000351841.2_Intron	p.S123T	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN		GBM - Glioblastoma multiforme(193;0.0967)	4	490	+	Ovarian(34;0.19)		123					Q6PEZ4	Missense_Mutation	SNP	ENST00000301202.2	37	c.368G>C	CCDS12897.1	97	0.044413919413919416	28	0.056910569105691054	13	0.03591160220994475	7	0.012237762237762238	49	0.06464379947229551	C	0.004	-2.301275	0.00243	.	.	ENSG00000167618	ENST00000301202	T	0.00523	6.83	1.4	-1.19	0.09585	.	.	.	.	.	T	0.00039	0.0001	N	0.02539	-0.55	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.23154	-1.0196	9	0.14252	T	0.57	.	0.4992	0.00576	0.2475:0.3218:0.2448:0.1859	rs3177589;rs17343215	123	Q6ISS4	LAIR2_HUMAN	T	123	ENSP00000301202:S123T	ENSP00000301202:S123T	S	+	2	0	LAIR2	59712060	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-1.594000	0.02094	-0.745000	0.04772	-0.980000	0.02579	AGC		0.627	LAIR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140801.1			3	12	0	0	0	1	0	3	12					C	55020248	G	C	55020248	3	2	258	1	0	0	0	0	1	0	0	0	8603	971	34	4	382	4	LAIR2	19	55020248	Missense_Mutation	SNP	G	TCGA-EL-A4JX-01A-12D-A257-08	8925593	55020248	4108735	11	5561											
PHKA2	5256	broad.mit.edu	37	chrX	18913268	18913268	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catcgtacctctcgggtcgtCgaggatgggaggacataacc	13	11	1	0			TCGA-EL-A4JX-01A-12D-A257-08	TCGA-EL-A4JX-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd	7edd3289-ff98-4237-a5bf-a3ece719e294	g.chrX:18913268C>T	ENST00000379942.4	-	31	3989	c.3324G>A	c.(3322-3324)tcG>tcA	p.S1108S	PHKA2-AS1_ENST00000439295.1_RNA|PHKA2-AS1_ENST00000452900.1_RNA|PHKA2_ENST00000481718.1_5'UTR	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1108					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CTCGGGTCGTCGAGGATGGGA	0.527																																						ENST00000379942.4																			0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(3322-3324)tcG>tcA		phosphorylase kinase, alpha 2 (liver)							173	147	156					X																	18913268		2203	4300	6503	SO:0001819	synonymous_variant	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18913268C>T		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.3324G>A	X.37:g.18913268C>T						PHKA2_ENST00000481718.1_5'UTR	p.S1108S	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN			31	3989	-	Hepatocellular(33;0.183)		1108					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Silent	SNP	ENST00000379942.4	37	c.3324G>A	CCDS14190.1																																																																																				0.527	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		25	89	0	0	0	1	0	25	89					T	18913268	C	T	18913268	2	4	258	1	0	0	0	0	0	0	0	1	11844	871	31	1		1	PHKA2	23	18913268	Silent	SNP	C	TCGA-EL-A4JX-01A-12D-A257-08		18913268	136357292	12	5562											
GPR101	83550	broad.mit.edu	37	chrX	136112376	136112376	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaccctctgttccgggcagGtctgggtggctatcttcttt	11	13	4	0			TCGA-EL-A4JX-01A-12D-A257-08	TCGA-EL-A4JX-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd	7edd3289-ff98-4237-a5bf-a3ece719e294	g.chrX:136112376G>T	ENST00000298110.1	-	1	1457	c.1458C>A	c.(1456-1458)gaC>gaA	p.D486E		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	486						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					TTCCGGGCAGGTCTGGGTGGC	0.478																																						ENST00000298110.1																			0				autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42						c.(1456-1458)gaC>gaA		G protein-coupled receptor 101							101	95	97					X																	136112376		2203	4300	6503	SO:0001583	missense	83550					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:136112376G>T	AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"GPCR / Class A : Orphans"	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.1458C>A	X.37:g.136112376G>T	ENSP00000298110:p.Asp486Glu						p.D486E	NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN			1	1457	-	Acute lymphoblastic leukemia(192;0.000127)		486					Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	c.1458C>A	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	G	5.090	0.202294	0.09652	.	.	ENSG00000165370	ENST00000298110	T	0.36157	1.27	5.08	-1.35	0.09114	.	.	.	.	.	T	0.16041	0.0386	N	0.14661	0.345	0.20307	N	0.999919	B	0.02656	0.0	B	0.04013	0.001	T	0.32134	-0.9918	9	0.11182	T	0.66	-9.416	5.3993	0.16286	0.3315:0.2257:0.4428:0.0	.	486	Q96P66	GP101_HUMAN	E	486	ENSP00000298110:D486E	ENSP00000298110:D486E	D	-	3	2	GPR101	135940042	1.000000	0.71417	0.158000	0.22627	0.382000	0.30200	1.202000	0.32271	-0.414000	0.07495	0.429000	0.28392	GAC		0.478	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			22	77	1	0	1.87028e-06	1	1.94222e-06	22	77					T	136112376	G	T	136112376	3	4	258	1	0	0	0	0	1	0	0	0	6622	1252	44	4	71	4	GPR101	23	136112376	Missense_Mutation	SNP	G	TCGA-EL-A4JX-01A-12D-A257-08	117199108	136112376	19158184	13	5563											
DCLRE1B	64858	broad.mit.edu	37	chr1	114454228	114454228	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaaaccaagccttctctgGctgttagaaaggaggctaaa	10	8	1	2			TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr1:114454228G>A	ENST00000369563.3	+	4	1460	c.1014G>A	c.(1012-1014)tgG>tgA	p.W338*	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	338					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		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)		GCCTTCTCTGGCTGTTAGAAA	0.498								Other identified genes with known or suspected DNA repair function																														ENST00000369563.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18						c.(1012-1014)tgG>tgA	Other identified genes with known or suspected DNA repair function	DNA cross-link repair 1B							57	59	58					1																	114454228		2203	4300	6503	SO:0001587	stop_gained	64858				cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding	g.chr1:114454228G>A	BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"APOLLO", "PSO2 homolog (S. cerevisiae)"	609683	"DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.1014G>A	1.37:g.114454228G>A	ENSP00000358576:p.Trp338*					DCLRE1B_ENST00000466480.1_3'UTR	p.W338*	NM_022836.3	NP_073747.1	Q9H816	DCR1B_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)	4	1460	+	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)	338					Q9H9E5	Nonsense_Mutation	SNP	ENST00000369563.3	37	c.1014G>A	CCDS866.1	.	.	.	.	.	.	.	.	.	.	G	39	7.529879	0.98342	.	.	ENSG00000118655	ENST00000369563	.	.	.	6.03	4.16	0.48862	.	0.753124	0.13281	N	0.399712	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-18.9939	4.3263	0.11041	0.1353:0.1186:0.6088:0.1373	.	.	.	.	X	338	.	ENSP00000358576:W338X	W	+	3	0	DCLRE1B	114255751	0.844000	0.29557	0.811000	0.32455	0.850000	0.48378	0.680000	0.25306	0.868000	0.35678	0.655000	0.94253	TGG		0.498	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033020.2	NM_022836		20	45	0	0	0	1	0	20	45					A	114454228	G	A	114454228	4	1	259	1	0	0	0	0	0	1	0	0	4295	1212	42	2	1028	2	DCLRE1B	1	114454228	Nonsense_Mutation	SNP	G	TCGA-EL-A4JZ-01A-11D-A257-08		114454228	134796393	1	5564											
TGFB2	7042	broad.mit.edu	37	chr1	218610805	218610805	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttctgtgctggagcatgcccGtatttatggagttcagacac	11	9	2	1	rs142741166		TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr1:218610805G>C	ENST00000366930.4	+	6	1520	c.1053G>C	c.(1051-1053)ccG>ccC	p.P351P	TGFB2_ENST00000479322.1_3'UTR|TGFB2_ENST00000366929.4_Silent_p.P379P	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	351					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		GAGCATGCCCGTATTTATGGA	0.483																																						ENST00000366929.4																			0				breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1135-1137)ccG>ccC		transforming growth factor, beta 2							120	111	114					1																	218610805		2203	4300	6503	SO:0001819	synonymous_variant	7042				activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding	g.chr1:218610805G>C	M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"Endogenous ligands"	11768	protein-coding gene	gene with protein product	"prepro-transforming growth factor beta-2"	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.1053G>C	1.37:g.218610805G>C						TGFB2_ENST00000366930.4_Silent_p.P351P|TGFB2_ENST00000479322.1_3'UTR	p.P379P	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN		all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)	7	1604	+			351					B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Silent	SNP	ENST00000366930.4	37	c.1137G>C	CCDS1521.1																																																																																				0.483	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238		4	31	0	0	0	1	0	4	31					C	218610805	G	C	218610805	2	2	259	1	0	0	0	0	0	0	0	1	15815	1132	40	4		4	TGFB2	1	218610805	Silent	SNP	G	TCGA-EL-A4JZ-01A-11D-A257-08	104156577	218610805	30639816	2	5565											
ERAP2	64167	broad.mit.edu	37	chr5	96215823	96215823	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttttgagttaccctgctcAtgaacaaattgcactgctgg	9	9	1	2	rs554491944		TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr5:96215823A>G	ENST00000437043.3	+	2	1145	c.434A>G	c.(433-435)cAt>cGt	p.H145R	ERAP2_ENST00000510309.1_Missense_Mutation_p.H145R|CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Missense_Mutation_p.H145R	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	145					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TACCCTGCTCATGAACAAATT	0.433													A|||	1	0.000199681	0	0	5008	,	,		23079	0		0	False		,,,				2504	0.001					ENST00000437043.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(433-435)cAt>cGt		endoplasmic reticulum aminopeptidase 2							90	82	85					5																	96215823		2203	4300	6503	SO:0001583	missense	64167				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96215823A>G	AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"leukocyte-derived arginine aminopeptidase"	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.434A>G	5.37:g.96215823A>G	ENSP00000400376:p.His145Arg					CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000510309.1_Missense_Mutation_p.H145R|ERAP2_ENST00000379904.4_Missense_Mutation_p.H145R	p.H145R	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN		COAD - Colon adenocarcinoma(37;0.0703)	2	1145	+		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)	145					Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Missense_Mutation	SNP	ENST00000437043.3	37	c.434A>G	CCDS4086.1	.	.	.	.	.	.	.	.	.	.	A	12.09	1.832136	0.32421	.	.	ENSG00000164308	ENST00000437043;ENST00000510373;ENST00000513084;ENST00000379904;ENST00000510309	T;T;T;T;T	0.04015	3.73;3.73;3.73;3.73;3.73	4.55	4.55	0.56014	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.03608	0.0103	N	0.17674	0.51	0.37286	D	0.90806	B;B	0.22983	0.078;0.059	B;B	0.26094	0.039;0.066	T	0.48410	-0.9038	10	0.19147	T	0.46	.	9.1545	0.36985	0.8368:0.0:0.0:0.1632	.	145;145	Q6P179-3;Q6P179	.;ERAP2_HUMAN	R	145	ENSP00000400376:H145R;ENSP00000421175:H145R;ENSP00000421849:H145R;ENSP00000369235:H145R;ENSP00000425758:H145R	ENSP00000369235:H145R	H	+	2	0	ERAP2	96241579	1.000000	0.71417	0.889000	0.34880	0.870000	0.49936	4.098000	0.57748	1.825000	0.53177	0.383000	0.25322	CAT		0.433	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2	NM_022350		9	23	0	0	0	1	0	9	23					G	96215823	A	G	96215823	3	3	259	1	0	0	0	0	1	0	0	0	5204	217	8	3	436	3	ERAP2	5	96215823	Missense_Mutation	SNP	A	TCGA-EL-A4JZ-01A-11D-A257-08		96215823	84699437	3	5566											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		19	42	0	0	0	1	0	19	42					T	140453136	A	T	140453136	3	4	259	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A4JZ-01A-11D-A257-08		140453136	18685527	4	5567											
LRRTM3	347731	broad.mit.edu	37	chr10	68687364	68687364	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttttccaaggttggtcagCcttcagaacctttacttgca	7	11	2	1			TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr10:68687364C>T	ENST00000361320.4	+	2	1268	c.690C>T	c.(688-690)agC>agT	p.S230S	CTNNA3_ENST00000433211.2_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	230					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						GGTTGGTCAGCCTTCAGAACC	0.458																																						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.(688-690)agC>agT		leucine rich repeat transmembrane neuronal 3							87	89	88					10																	68687364		2203	4300	6503	SO:0001819	synonymous_variant	347731					integral to membrane		g.chr10:68687364C>T	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.690C>T	10.37:g.68687364C>T						CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron	p.S230S	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN			2	1268	+			230					A8K2A3|Q2NKX7|Q6N0A3	Silent	SNP	ENST00000361320.4	37	c.690C>T	CCDS7270.1																																																																																				0.458	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		28	52	0	0	0	1	0	28	52					T	68687364	C	T	68687364	2	4	259	1	0	0	0	0	0	0	0	1	9041	738	26	2		2	LRRTM3	10	68687364	Silent	SNP	C	TCGA-EL-A4JZ-01A-11D-A257-08		68687364	66847383	5	5568											
SORCS3	22986	broad.mit.edu	37	chr10	106976772	106976772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgcaaacttcagccccatcGaggacggcatcaagcacgtg	10	14	2	0			TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr10:106976772G>A	ENST00000369701.3	+	19	2853	c.2626G>A	c.(2626-2628)Gag>Aag	p.E876K	SORCS3_ENST00000369699.4_Missense_Mutation_p.E162K	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	876	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CAGCCCCATCGAGGACGGCAT	0.527																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(2626-2628)Gag>Aag		sortilin-related VPS10 domain containing receptor 3							169	129	142					10																	106976772		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106976772G>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2626G>A	10.37:g.106976772G>A	ENSP00000358715:p.Glu876Lys					SORCS3_ENST00000369699.4_Missense_Mutation_p.E162K	p.E876K	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	19	2853	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	876			PKD.		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.2626G>A	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	34	5.358173	0.95854	.	.	ENSG00000156395	ENST00000369701;ENST00000369699	T;T	0.62788	-0.0;-0.0	5.87	5.87	0.94306	PKD domain (4);	0.297159	0.37577	N	0.002037	T	0.75989	0.3925	M	0.64997	1.995	0.80722	D	1	D	0.67145	0.996	P	0.61070	0.883	T	0.72567	-0.4254	9	.	.	.	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	876	Q9UPU3	SORC3_HUMAN	K	876;162	ENSP00000358715:E876K;ENSP00000358713:E162K	.	E	+	1	0	SORCS3	106966762	1.000000	0.71417	0.994000	0.49952	0.957000	0.61999	7.579000	0.82511	2.941000	0.99782	0.655000	0.94253	GAG		0.527	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		11	29	0	0	0	1	0	11	29					A	106976772	G	A	106976772	3	1	259	1	0	0	0	0	1	0	0	0	14932	1059	37	1	2700	1	SORCS3	10	106976772	Missense_Mutation	SNP	G	TCGA-EL-A4JZ-01A-11D-A257-08	38289408	106976772	28557975	6	5569											
KRTAP5-6	440023	broad.mit.edu	37	chr11	1718519	1718519	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggctgtggctccggctgtgGgggctgtggctctggctgtg	20	9	1	0			TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr11:1718519G>C	ENST00000382160.1	+	1	95	c.44G>C	c.(43-45)gGg>gCg	p.G15A		NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN	keratin associated protein 5-6	15						keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		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;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TCCGGCTGTGGGGGCTGTGGC	0.652																																						ENST00000382160.1																			0				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10						c.(43-45)gGg>gCg		keratin associated protein 5-6							65	83	77					11																	1718519		2200	4298	6498	SO:0001583	missense	440023					keratin filament		g.chr11:1718519G>C	AB126075	CCDS31332.1	11p15.5	2008-02-05			ENSG00000205864	ENSG00000205864		"Keratin associated proteins"	23600	protein-coding gene	gene with protein product						15144888	Standard	NM_001012416		Approved	KRTAP5.6	uc001lua.3	Q6L8G9	OTTHUMG00000043932	ENST00000382160.1:c.44G>C	11.37:g.1718519G>C	ENSP00000371595:p.Gly15Ala						p.G15A	NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	95	+		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)	15					A1L452	Missense_Mutation	SNP	ENST00000382160.1	37	c.44G>C	CCDS31332.1	.	.	.	.	.	.	.	.	.	.	g	2.645	-0.283318	0.05642	.	.	ENSG00000205864	ENST00000382160	T	0.09445	2.98	2.86	2.86	0.33363	.	.	.	.	.	T	0.30070	0.0753	M	0.85197	2.74	0.24171	N	0.995625	D	0.71674	0.998	D	0.70487	0.969	T	0.26643	-1.0097	9	0.09084	T	0.74	.	11.5464	0.50696	0.0:0.0:1.0:0.0	.	15	Q6L8G9	KRA56_HUMAN	A	15	ENSP00000371595:G15A	ENSP00000371595:G15A	G	+	2	0	KRTAP5-6	1675095	1.000000	0.71417	1.000000	0.80357	0.153000	0.21895	4.044000	0.57361	1.604000	0.50143	0.410000	0.27636	GGG		0.652	KRTAP5-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102339.2			40	99	0	0	0	1	0	40	99					C	1718519	G	C	1718519	3	2	259	1	0	0	0	0	1	0	0	0	8565	1232	43	4	46	4	KRTAP5-6	11	1718519	Missense_Mutation	SNP	G	TCGA-EL-A4JZ-01A-11D-A257-08		1718519	133287997	7	5570											
WRAP53	55135	broad.mit.edu	37	chr17	7592188	7592188	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggagggggacccagtttcTctctccactcccctggaaac	11	15	2	0			TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr17:7592188T>C	ENST00000316024.5	+	1	2570	c.222T>C	c.(220-222)tcT>tcC	p.S74S	WRAP53_ENST00000534050.1_Silent_p.S74S|WRAP53_ENST00000396463.2_Silent_p.S74S|WRAP53_ENST00000431639.2_Silent_p.S74S|WRAP53_ENST00000457584.2_Silent_p.S74S|TP53_ENST00000455263.2_5'Flank|RP11-199F11.2_ENST00000571370.1_RNA|TP53_ENST00000269305.4_5'Flank|TP53_ENST00000445888.2_5'Flank|TP53_ENST00000420246.2_5'Flank			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	74					positive regulation of telomerase activity (GO:0051973)|telomere formation via telomerase (GO:0032203)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						ACCCAGTTTCTCTCTCCACTC	0.582																																						ENST00000316024.5																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						c.(220-222)tcT>tcC		WD repeat containing, antisense to TP53							79	95	90					17																	7592188		2203	4300	6503	SO:0001819	synonymous_variant	55135				positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding	g.chr17:7592188T>C	AK001247, DQ431240	CCDS11119.1	17p13.1	2014-09-17	2009-02-16	2009-02-16	ENSG00000141499	ENSG00000141499		"WD repeat domain containing"	25522	protein-coding gene	gene with protein product	"telomerase cajal body protein 1", "WD-encoding RNA antisense to p53"	612661	"WD repeat domain 79"	WDR79		19179534, 19250907, 19571673, 19342896, 20494116, 21441950	Standard	NM_018081		Approved	FLJ10385, TCAB1	uc010vuh.2	Q9BUR4	OTTHUMG00000134323	ENST00000316024.5:c.222T>C	17.37:g.7592188T>C						WRAP53_ENST00000396463.2_Silent_p.S74S|WRAP53_ENST00000457584.2_Silent_p.S74S|WRAP53_ENST00000534050.1_Silent_p.S74S|WRAP53_ENST00000431639.2_Silent_p.S74S	p.S74S			Q9BUR4	WAP53_HUMAN			1	2570	+			74					B3KPR9|D3DTQ4|Q08ET9|Q9NW09	Silent	SNP	ENST00000316024.5	37	c.222T>C	CCDS11119.1																																																																																				0.582	WRAP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259385.2	NM_018081		29	59	0	0	0	1	0	29	59					C	7592188	T	C	7592188	2	2	259	1	0	0	0	0	0	0	0	1	17397	1538	54	3		3	WRAP53	17	7592188	Silent	SNP	T	TCGA-EL-A4JZ-01A-11D-A257-08		7592188	73603022	8	5571											
AKT2	208	broad.mit.edu	37	chr19	40762959	40762959	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctccaggtcttgatgtattCacctgaaatgaggcaggaag	11	9	2	3	rs387906659		TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr19:40762959C>T	ENST00000392038.2	-	3	347	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	AKT2_ENST00000424901.1_Missense_Mutation_p.E17K|AKT2_ENST00000579047.1_5'UTR|AKT2_ENST00000311278.6_Missense_Mutation_p.E17K	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	17	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.		E -> K (in HIHGHH; exhibits plasma membrane localization in serum-starved cells and produced inappropriate tonic nuclear exclusion of FOXO1 in preadipocytes). {ECO:0000269|PubMed:21979934}.		activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)	p.E17K(1)		breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			TTGATGTATTCACCTGAAATG	0.577			A		"ovarian, pancreatic "																																	ENST00000392038.2				Dom	yes		19	19q13.1-q13.2	208	A	v-akt murine thymoma viral oncogene homolog 2			E			"ovarian, pancreatic "		1	Substitution - Missense(1)	p.E17K(1)	breast(1)	breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27						c.(49-51)Gaa>Aaa		v-akt murine thymoma viral oncogene homolog 2							73	65	68					19																	40762959		2203	4300	6503	SO:0001583	missense	208				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr19:40762959C>T	M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"Pleckstrin homology (PH) domain containing"	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.49G>A	19.37:g.40762959C>T	ENSP00000375892:p.Glu17Lys					AKT2_ENST00000579047.1_5'UTR|AKT2_ENST00000424901.1_Missense_Mutation_p.E17K|AKT2_ENST00000311278.6_Missense_Mutation_p.E17K	p.E17K	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	Lung(22;0.000499)		3	347	-			17			PH.		B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Missense_Mutation	SNP	ENST00000392038.2	37	c.49G>A	CCDS12552.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.00|18.00	3.525681|3.525681	0.64860|0.64860	.|.	.|.	ENSG00000105221|ENSG00000105221	ENST00000358335|ENST00000392038;ENST00000424901;ENST00000311278;ENST00000537834;ENST00000452077;ENST00000392037;ENST00000416362;ENST00000423127;ENST00000456441;ENST00000416994;ENST00000427375;ENST00000441941	.|T;T;T;T;T;T;T;T;T;T;T	.|0.37915	.|1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17	5.27|5.27	5.27|5.27	0.74061|0.74061	.|Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.60222	.|0.2252	M|M	0.67700|0.67700	2.07|2.07	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.994;1.0;1.0	.|D;D;D	.|0.91635	.|0.974;0.997;0.999	.|T	.|0.61705	.|-0.7008	.|10	.|0.72032	.|D	.|0.01	.|.	17.8288|17.8288	0.88674|0.88674	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|17;17;17	.|B7Z8Z9;Q0VAN0;P31751	.|.;.;AKT2_HUMAN	.|K	-1|17	.|ENSP00000375892:E17K;ENSP00000399532:E17K;ENSP00000309428:E17K;ENSP00000404083:E17K;ENSP00000375891:E17K;ENSP00000407999:E17K;ENSP00000403842:E17K;ENSP00000396532:E17K;ENSP00000392458:E17K;ENSP00000403890:E17K;ENSP00000396968:E17K	.|ENSP00000309428:E17K	.|E	-|-	.|1	.|0	AKT2|AKT2	45454799|45454799	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	7.301000|7.301000	0.78850|0.78850	2.758000|2.758000	0.94735|0.94735	0.561000|0.561000	0.74099|0.74099	.|GAA		0.577	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268029.1	NM_001626		12	39	0	0	0	1	0	12	39					T	40762959	C	T	40762959	3	4	259	1	0	0	0	0	1	0	0	0	480	835	29	2	1444	2	AKT2	19	40762959	Missense_Mutation	SNP	C	TCGA-EL-A4JZ-01A-11D-A257-08		40762959	18366024	9	5572											
ZNF549	256051	broad.mit.edu	37	chr19	58049389	58049389	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgcaatgtatgtgggaaAtcattccgccacaaacaaac	9	9	1	0			TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr19:58049389A>G	ENST00000376233.3	+	4	1198	c.1017A>G	c.(1015-1017)aaA>aaG	p.K339K	ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000240719.3_Silent_p.K326K	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	339					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(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		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)		TATGTGGGAAATCATTCCGCC	0.428																																						ENST00000376233.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1015-1017)aaA>aaG		zinc finger protein 549							95	90	92					19																	58049389		2203	4300	6503	SO:0001819	synonymous_variant	256051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58049389A>G	AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"Zinc fingers, C2H2-type", "-"	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.1017A>G	19.37:g.58049389A>G						ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000240719.3_Silent_p.K326K|ZNF549_ENST00000594943.1_Intron	p.K339K	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1198	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	339					B3KV91|O43336|Q8NAR4	Silent	SNP	ENST00000376233.3	37	c.1017A>G	CCDS56106.1																																																																																				0.428	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	NM_153263		21	45	0	0	0	1	0	21	45					G	58049389	A	G	58049389	2	3	259	1	0	0	0	0	0	0	0	1	17978	98	4	3		3	ZNF549	19	58049389	Silent	SNP	A	TCGA-EL-A4JZ-01A-11D-A257-08	17286430	58049389	1079594	10	5573											
PREX1	57580	broad.mit.edu	37	chr20	47256389	47256389	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcctggatgctaatctggatCaggctccggccacggattgt	12	11	2	0			TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr20:47256389C>T	ENST00000371941.3	-	30	3841	c.3819G>A	c.(3817-3819)ctG>ctA	p.L1273L	PREX1_ENST00000396220.1_Silent_p.L1273L|PREX1_ENST00000496915.1_5'Flank	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1273					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TAATCTGGATCAGGCTCCGGC	0.552																																						ENST00000396220.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(3817-3819)ctG>ctA		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							156	150	152					20																	47256389		2203	4300	6503	SO:0001819	synonymous_variant	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47256389C>T	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.3819G>A	20.37:g.47256389C>T						PREX1_ENST00000371941.3_Silent_p.L1273L	p.L1273L			Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		30	3841	-			1273					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Silent	SNP	ENST00000371941.3	37	c.3819G>A	CCDS13410.1																																																																																				0.552	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		6	105	0	0	0	1	0	6	105					T	47256389	C	T	47256389	2	4	259	1	0	0	0	0	0	0	0	1	12476	813	29	2		2	PREX1	20	47256389	Silent	SNP	C	TCGA-EL-A4JZ-01A-11D-A257-08		47256389	15769131	11	5574											
NCAM2	4685	broad.mit.edu	37	chr21	22849723	22849723	+	Frame_Shift_Del	DEL	A	A	-													aagttcagattacagctgccAatagattgggatattctgaa							TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr21:22849723delA	ENST00000400546.1	+	15	2257	c.2008delA	c.(2008-2010)aatfs	p.N670fs	NCAM2_ENST00000284894.7_Frame_Shift_Del_p.N528fs	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	670	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TACAGCTGCCAATAGATTGGG	0.388																																						ENST00000400546.1																			0				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108						c.(2008-2010)atfs		neural cell adhesion molecule 2							87	83	84					21																	22849723		1872	4113	5985	SO:0001589	frameshift_variant	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22849723delA		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.2008delA	21.37:g.22849723delA	ENSP00000383392:p.Asn670fs					NCAM2_ENST00000284894.7_Frame_Shift_Del_p.N528fs	p.N670fs	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	15	2257	+		Lung NSC(9;0.195)	670			Fibronectin type-III 2.		A8MQ06|B7Z841|Q7Z7F2	Frame_Shift_Del	DEL	ENST00000400546.1	37	c.2008delA	CCDS42910.1																																																																																				0.388	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		14	31						14	31	---	---	---	---	-	22849723	A	-	22849723	7	5	259	1	0	1	0	1	0	0	0	0	10203	130	5	0	2066	0	NCAM2	21	22849723	Frame_Shift_Del	DEL	A	TCGA-EL-A4JZ-01A-11D-A257-08		22849723	25280172	12	5575											
CLIC2	1193	broad.mit.edu	37	chrX	154508527	154508527	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcttctggaaactgggggttCctcagcactgtctggatcaa	11	10	5	0			TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chrX:154508527C>A	ENST00000369449.2	-	5	711	c.493G>T	c.(493-495)Gaa>Taa	p.E165*	CLIC2_ENST00000465553.1_5'UTR	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN	chloride intracellular channel 2	165	C-terminal.|Foot loop.|GST C-terminal.				chloride transmembrane transport (GO:1902476)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|oxidation-reduction process (GO:0055114)|positive regulation of binding (GO:0051099)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|signal transduction (GO:0007165)|transport (GO:0006810)	chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)|glutathione peroxidase activity (GO:0004602)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACTGGGGGTTCCTCAGCACTG	0.423																																					Melanoma(108;581 1592 2289 21669 28822)	ENST00000369449.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18						c.(493-495)Gaa>Taa		chloride intracellular channel 2							81	77	78					X																	154508527		2203	4300	6503	SO:0001587	stop_gained	1193				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity	g.chrX:154508527C>A	AJ000217	CCDS14767.1	Xq28	2012-09-26			ENSG00000155962	ENSG00000155962		"Ion channels / Chloride channels : Intracellular"	2063	protein-coding gene	gene with protein product		300138				9339381	Standard	NM_001289		Approved	XAP121	uc004fnf.3	O15247	OTTHUMG00000022660	ENST00000369449.2:c.493G>T	X.37:g.154508527C>A	ENSP00000358460:p.Glu165*					CLIC2_ENST00000465553.1_5'UTR	p.E165*	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN			5	711	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		165			C-terminal.|Foot loop.|GST C-terminal.		A8K9S0|O15174|Q5JT80|Q8TCE3	Nonsense_Mutation	SNP	ENST00000369449.2	37	c.493G>T	CCDS14767.1	.	.	.	.	.	.	.	.	.	.	c	22.6	4.305729	0.81247	.	.	ENSG00000155962	ENST00000369449;ENST00000321926	.	.	.	4.68	4.68	0.58851	.	0.298284	0.37761	N	0.001942	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-8.578	14.4807	0.67579	0.0:1.0:0.0:0.0	.	.	.	.	X	165;123	.	ENSP00000318558:E123X	E	-	1	0	CLIC2	154161721	0.999000	0.42202	0.996000	0.52242	0.941000	0.58515	2.516000	0.45520	2.085000	0.62840	0.284000	0.19432	GAA		0.423	CLIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058793.1	NM_001289		21	42	1	0	8.34094e-07	1	8.34094e-07	21	42					A	154508527	C	A	154508527	4	1	259	1	0	0	0	0	0	1	0	0	3526	864	30	4	258	4	CLIC2	23	154508527	Nonsense_Mutation	SNP	C	TCGA-EL-A4JZ-01A-11D-A257-08		154508527	762033	13	5576											
LCE1C	353133	broad.mit.edu	37	chr1	152777911	152777911	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gagggcacttgggggtgcacTtgggagggggctggcactgc	21	8	0	0			TCGA-EL-A4K0-01A-11D-A257-08	TCGA-EL-A4K0-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220d117b-cc76-4c53-8f51-5eee3409a703	939a3085-5656-44fb-a757-67e40ab49b32	g.chr1:152777911T>A	ENST00000607093.1	-	1	43	c.44A>T	c.(43-45)aAg>aTg	p.K15M	LCE1C_ENST00000368768.1_Missense_Mutation_p.K15M			Q5T751	LCE1C_HUMAN	late cornified envelope 1C	15	Pro-rich.				keratinization (GO:0031424)					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gggggtgcacttgggagggGG	0.607																																						ENST00000368768.1																			0				NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9						c.(43-45)aAg>aTg		late cornified envelope 1C							40	38	39					1																	152777911		2202	4300	6502	SO:0001583	missense	353133				keratinization			g.chr1:152777911T>A		CCDS1026.1	1q21.3	2008-02-05			ENSG00000197084	ENSG00000197084		"Late cornified envelopes"	29464	protein-coding gene	gene with protein product		612605				11698679	Standard	NM_001276331		Approved	LEP3	uc001fap.1	Q5T751	OTTHUMG00000012445	ENST00000607093.1:c.44A>T	1.37:g.152777911T>A	ENSP00000475270:p.Lys15Met					LCE1C_ENST00000607093.1_Missense_Mutation_p.K15M	p.K15M	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	94	-	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		15			Pro-rich.			Missense_Mutation	SNP	ENST00000607093.1	37	c.44A>T	CCDS1026.1	.	.	.	.	.	.	.	.	.	.	T	10.42	1.346045	0.24426	.	.	ENSG00000197084	ENST00000368768	T	0.07688	3.17	3.39	3.39	0.38822	.	.	.	.	.	T	0.11879	0.0289	M	0.83774	2.66	0.24947	N	0.991817	D	0.53312	0.959	P	0.54706	0.759	T	0.06127	-1.0844	9	0.87932	D	0	.	8.4875	0.33080	0.0:0.0:0.0:1.0	.	15	Q5T751	LCE1C_HUMAN	M	15	ENSP00000357757:K15M	ENSP00000357757:K15M	K	-	2	0	LCE1C	151044535	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.212000	0.42835	1.300000	0.44818	0.533000	0.62120	AAG		0.607	LCE1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034658.2	NM_178351		9	20	0	0	0	1	0	9	20					A	152777911	T	A	152777911	3	1	260	1	0	0	0	0	1	0	0	0	8661	1609	56	5	316	5	LCE1C	1	152777911	Missense_Mutation	SNP	T	TCGA-EL-A4K0-01A-11D-A257-08		152777911	96472710	1	5577											
HMCN1	83872	broad.mit.edu	37	chr1	186052052	186052052	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtgtgttgctgagaacaCagctgggagtgccaaaaaat	13	6	0	1			TCGA-EL-A4K0-01A-11D-A257-08	TCGA-EL-A4K0-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220d117b-cc76-4c53-8f51-5eee3409a703	939a3085-5656-44fb-a757-67e40ab49b32	g.chr1:186052052C>A	ENST00000271588.4	+	57	9072	c.8843C>A	c.(8842-8844)aCa>aAa	p.T2948K	HMCN1_ENST00000367492.2_Missense_Mutation_p.T2948K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2948	Ig-like C2-type 27.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCTGAGAACACAGCTGGGAGT	0.353																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(8842-8844)aCa>aAa		hemicentin 1							73	74	74					1																	186052052		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186052052C>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.8843C>A	1.37:g.186052052C>A	ENSP00000271588:p.Thr2948Lys					HMCN1_ENST00000367492.2_Missense_Mutation_p.T2948K	p.T2948K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			57	9072	+			2948			Ig-like C2-type 27.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.8843C>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.380978	0.24944	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.28666	1.6;1.6	5.44	4.42	0.53409	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.378223	0.31484	N	0.007576	T	0.28566	0.0707	N	0.20401	0.57	0.29956	N	0.819825	D	0.76494	0.999	D	0.70016	0.967	T	0.21348	-1.0248	10	0.05620	T	0.96	.	6.4966	0.22146	0.0:0.7868:0.0:0.2132	.	2948	Q96RW7	HMCN1_HUMAN	K	2948	ENSP00000271588:T2948K;ENSP00000356462:T2948K	ENSP00000271588:T2948K	T	+	2	0	HMCN1	184318675	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.053000	0.41326	2.540000	0.85666	0.591000	0.81541	ACA		0.353	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		9	20	1	0	3.09899e-07	1	3.23985e-07	9	20					A	186052052	C	A	186052052	3	1	260	1	0	0	0	0	1	0	0	0	7220	478	17	4	9069	4	HMCN1	1	186052052	Missense_Mutation	SNP	C	TCGA-EL-A4K0-01A-11D-A257-08	33274141	186052052	63198569	2	5578											
UGT1A3	54659	broad.mit.edu	37	chr2	234638599	234638599	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgcccaacatggtcttcaTtgggggcatcaactgtgcca	10	12	3	0	rs371021401	byFrequency	TCGA-EL-A4K0-01A-11D-A257-08	TCGA-EL-A4K0-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220d117b-cc76-4c53-8f51-5eee3409a703	939a3085-5656-44fb-a757-67e40ab49b32	g.chr2:234638599T>C	ENST00000482026.1	+	1	846	c.827T>C	c.(826-828)aTt>aCt	p.I276T	UGT1A1_ENST00000609767.1_Missense_Mutation_p.I276T|UGT1A9_ENST00000354728.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000608381.1_Intron			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	276					cellular glucuronidation (GO:0052695)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|UDP-glycosyltransferase activity (GO:0008194)			breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	Atorvastatin(DB01076)|Candesartan(DB00796)|Cyproheptadine(DB00434)|Eltrombopag(DB06210)|Etodolac(DB00749)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Irbesartan(DB01029)|Lamotrigine(DB00555)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Pitavastatin(DB08860)|Simvastatin(DB00641)|Valproic Acid(DB00313)	ATGGTCTTCATTGGGGGCATC	0.473													T|||	19	0.00379393	0	0	5008	,	,		19056	0.001		0	False		,,,				2504	0.0184					ENST00000482026.1																			0				breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46						c.(826-828)aTt>aCt									108	111	110					2																	234638599		2203	4300	6503	SO:0001583	missense	0							g.chr2:234638599T>C	M84127	CCDS2509.1	2q37	2010-03-05	2005-07-20		ENSG00000243135	ENSG00000243135		"UDP glucuronosyltransferases"	12535	other	complex locus constituent		606428	"UDP glycosyltransferase 1 family, polypeptide A3"			9295054, 1339448, 11434514	Standard	NM_019093		Approved	UGT1C		P35503	OTTHUMG00000059118	ENST00000482026.1:c.827T>C	2.37:g.234638599T>C	ENSP00000418532:p.Ile276Thr					UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron	p.I276T	NM_019093.2	NP_061966.1				Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	1	846	+		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)						B8K287	Missense_Mutation	SNP	ENST00000482026.1	37	c.827T>C	CCDS2509.1	.	.	.	.	.	.	.	.	.	.	t	19.20	3.782465	0.70222	.	.	ENSG00000243135	ENST00000482026	T	0.67171	-0.25	4.0	4.0	0.46444	.	.	.	.	.	D	0.84687	0.5527	M	0.92923	3.36	0.44380	D	0.997284	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88217	0.2894	9	0.87932	D	0	.	12.938	0.58327	0.0:0.0:0.0:1.0	.	276;276	Q5DT01;P35503	.;UD13_HUMAN	T	276	ENSP00000418532:I276T	ENSP00000418532:I276T	I	+	2	0	UGT1A3	234303338	0.921000	0.31238	0.999000	0.59377	0.885000	0.51271	5.134000	0.64770	1.457000	0.47850	0.373000	0.22412	ATT		0.473	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130983.1	NM_019093		7	142	0	0	0	1	0	7	142					C	234638599	T	C	234638599	3	2	260	1	0	0	0	0	1	0	0	0	16943	1493	52	3	829	3	UGT1A3	2	234638599	Missense_Mutation	SNP	T	TCGA-EL-A4K0-01A-11D-A257-08		234638599	8560774	3	5579											
SETD5	55209	broad.mit.edu	37	chr3	9482327	9482327	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaacctactattttagacaCtattaataagactgaattgg	5	7	0	3			TCGA-EL-A4K0-01A-11D-A257-08	TCGA-EL-A4K0-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220d117b-cc76-4c53-8f51-5eee3409a703	939a3085-5656-44fb-a757-67e40ab49b32	g.chr3:9482327C>T	ENST00000406341.1	+	7	945	c.755C>T	c.(754-756)aCt>aTt	p.T252I	SETD5_ENST00000407969.1_Missense_Mutation_p.T271I|SETD5_ENST00000402466.1_Missense_Mutation_p.T154I|SETD5_ENST00000402198.1_Missense_Mutation_p.T252I|SETD5_ENST00000302463.6_Missense_Mutation_p.T154I			Q9C0A6	SETD5_HUMAN	SET domain containing 5	252										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		ATTTTAGACACTATTAATAAG	0.393																																						ENST00000402466.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(460-462)aCt>aTt		SET domain containing 5							74	70	71					3																	9482327		1863	4105	5968	SO:0001583	missense	55209							g.chr3:9482327C>T	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.755C>T	3.37:g.9482327C>T	ENSP00000383939:p.Thr252Ile					SETD5_ENST00000407969.1_Missense_Mutation_p.T271I|SETD5_ENST00000406341.1_Missense_Mutation_p.T252I|SETD5_ENST00000302463.6_Missense_Mutation_p.T154I|SETD5_ENST00000402198.1_Missense_Mutation_p.T252I	p.T154I			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	9	1229	+	Medulloblastoma(99;0.227)		252					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.461C>T	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	C	32	5.170312	0.94768	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000442373;ENST00000302463	D;D;D;D;T;D	0.92699	-2.76;-3.09;-2.76;-2.76;0.8;-3.09	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.92935	0.7752	N	0.19112	0.55	0.58432	D	0.999999	D;D;B	0.89917	1.0;0.999;0.23	D;D;B	0.87578	0.998;0.991;0.183	D	0.92896	0.6335	10	0.41790	T	0.15	-5.8603	19.4544	0.94882	0.0:1.0:0.0:0.0	.	154;252;271	Q9C0A6-3;Q9C0A6;E7EWN3	.;SETD5_HUMAN;.	I	252;154;252;271;141;154	ENSP00000385852:T252I;ENSP00000384429:T154I;ENSP00000383939:T252I;ENSP00000384114:T271I;ENSP00000408837:T141I;ENSP00000302028:T154I	ENSP00000302028:T154I	T	+	2	0	SETD5	9457327	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.675000	0.68123	2.693000	0.91896	0.650000	0.86243	ACT		0.393	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		5	13	0	0	0	1	0	5	13					T	9482327	C	T	9482327	3	4	260	1	0	0	0	0	1	0	0	0	14134	565	20	2	777	2	SETD5	3	9482327	Missense_Mutation	SNP	C	TCGA-EL-A4K0-01A-11D-A257-08		9482327	188540103	4	5580											
LRRC33	375387	broad.mit.edu	37	chr3	196387348	196387348	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcaagttgcggaccctcctGctgcgcgacaacaacatggg	12	13	0	0			TCGA-EL-A4K0-01A-11D-A257-08	TCGA-EL-A4K0-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220d117b-cc76-4c53-8f51-5eee3409a703	939a3085-5656-44fb-a757-67e40ab49b32	g.chr3:196387348G>C	ENST00000328557.4	+	3	1037	c.834G>C	c.(832-834)ctG>ctC	p.L278L		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	278					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											GGACCCTCCTGCTGCGCGACA	0.627																																						ENST00000328557.4																			0											c.(832-834)ctG>ctC		negative regulator of reactive oxygen species							106	107	107					3																	196387348		2203	4300	6503	SO:0001819	synonymous_variant	375387							g.chr3:196387348G>C	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"leucine rich repeat containing 33"	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.834G>C	3.37:g.196387348G>C							p.L278L	NM_198565.1	NP_940967.1					3	1037	+									Silent	SNP	ENST00000328557.4	37	c.834G>C	CCDS3319.1																																																																																				0.627	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		34	92	0	0	0	1	0	34	92					C	196387348	G	C	196387348	2	2	260	1	0	0	0	0	0	0	0	1	8988	1306	46	4		4	LRRC33	3	196387348	Silent	SNP	G	TCGA-EL-A4K0-01A-11D-A257-08	186905021	196387348	1635082	5	5581											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A4K0-01A-11D-A257-08	TCGA-EL-A4K0-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220d117b-cc76-4c53-8f51-5eee3409a703	939a3085-5656-44fb-a757-67e40ab49b32	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		25	45	0	0	0	1	0	25	45					T	140453136	A	T	140453136	3	4	260	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A4K0-01A-11D-A257-08		140453136	18685527	6	5582											
ARCN1	372	broad.mit.edu	37	chr11	118455289	118455289	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatctgaaggtgaaaccatcAtgtcctctagtatgggcaag	10	8	3	2			TCGA-EL-A4K0-01A-11D-A257-08	TCGA-EL-A4K0-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220d117b-cc76-4c53-8f51-5eee3409a703	939a3085-5656-44fb-a757-67e40ab49b32	g.chr11:118455289A>G	ENST00000264028.4	+	5	843	c.748A>G	c.(748-750)Atg>Gtg	p.M250V	ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000392859.3_Missense_Mutation_p.M162V|ARCN1_ENST00000359415.4_Missense_Mutation_p.M291V	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	250					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TGAAACCATCATGTCCTCTAG	0.413																																						ENST00000359415.4																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13						c.(871-873)Atg>Gtg		archain 1							112	101	105					11																	118455289		2200	4295	6495	SO:0001583	missense	372				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol		g.chr11:118455289A>G	X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"coatomer protein complex, subunit delta"	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.748A>G	11.37:g.118455289A>G	ENSP00000264028:p.Met250Val					ARCN1_ENST00000392859.3_Missense_Mutation_p.M162V|ARCN1_ENST00000264028.4_Missense_Mutation_p.M250V|ARCN1_ENST00000534182.2_Intron	p.M291V			P48444	COPD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	6	1036	+	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)	250			MHD.		B4E1X2|E9PEU4|Q52M80	Missense_Mutation	SNP	ENST00000264028.4	37	c.871A>G	CCDS8400.1	.	.	.	.	.	.	.	.	.	.	A	9.972	1.225719	0.22542	.	.	ENSG00000095139	ENST00000392859;ENST00000359415;ENST00000264028	T;T;T	0.41400	1.0;1.0;1.0	5.65	3.3	0.37823	.	0.211908	0.64402	N	0.000019	T	0.12518	0.0304	N	0.00583	-1.355	0.42644	D	0.993428	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.05146	-1.0903	10	0.25106	T	0.35	-0.6389	8.4405	0.32812	0.7833:0.0:0.2167:0.0	.	162;291;250	E9PEU4;B0YIW6;P48444	.;.;COPD_HUMAN	V	162;291;250	ENSP00000376599:M162V;ENSP00000352385:M291V;ENSP00000264028:M250V	ENSP00000264028:M250V	M	+	1	0	ARCN1	117960499	1.000000	0.71417	0.999000	0.59377	0.910000	0.53928	2.640000	0.46579	0.410000	0.25675	0.533000	0.62120	ATG		0.413	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389278.1			25	40	0	0	0	1	0	25	40					G	118455289	A	G	118455289	3	3	260	1	0	0	0	0	1	0	0	0	842	217	8	3	766	3	ARCN1	11	118455289	Missense_Mutation	SNP	A	TCGA-EL-A4K0-01A-11D-A257-08		118455289	16551227	7	5583											
NELL2	4753	broad.mit.edu	37	chr12	45269298	45269298	+	Intron	DEL	A	A	-													cgagagccttacctgagatcAgcagccaagctttaaatagc							TCGA-EL-A4K0-01A-11D-A257-08	TCGA-EL-A4K0-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220d117b-cc76-4c53-8f51-5eee3409a703	939a3085-5656-44fb-a757-67e40ab49b32	g.chr12:45269298delA	ENST00000429094.2	-	2	560				NELL2_ENST00000452445.2_Intron|NELL2_ENST00000549027.1_Frame_Shift_Del_p.L15fs|NELL2_ENST00000551601.1_Frame_Shift_Del_p.L15fs|NELL2_ENST00000395487.2_Frame_Shift_Del_p.L15fs|NELL2_ENST00000333837.4_Intron|NELL2_ENST00000548826.1_Intron|NELL2_ENST00000437801.2_Intron	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)							extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		ACCTGAGATCAGCAGCCAAGC	0.557																																						ENST00000395487.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(43-45)cgfs		NEL-like 2 (chicken)							87	83	84					12																	45269298		1568	3582	5150	SO:0001627	intron_variant	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45269298delA	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"nel (chicken)-like 2"			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.56-162T>-	12.37:g.45269298delA						NELL2_ENST00000333837.4_Intron|NELL2_ENST00000549027.1_Frame_Shift_Del_p.L15fs|NELL2_ENST00000437801.2_Intron|NELL2_ENST00000452445.2_Intron|NELL2_ENST00000429094.2_Intron|NELL2_ENST00000551601.1_Frame_Shift_Del_p.L15fs|NELL2_ENST00000548826.1_Intron	p.L15fs	NM_001145109.1	NP_001138581.1	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	1	139	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	0					B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Frame_Shift_Del	DEL	ENST00000429094.2	37	c.44delT	CCDS8746.1																																																																																				0.557	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		6	13						6	13	---	---	---	---	-	45269298	A	-	45269298	6	5	260	0	1	1	0	1	0	0	0	0	10334	188	7	0		0	NELL2	12	45269298	Intron	DEL	A	TCGA-EL-A4K0-01A-11D-A257-08		45269298	88582597	8	5584											
GPC6	10082	broad.mit.edu	37	chr13	94482634	94482634	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaccctcagtatcacttcAgtgaagactacctggaatgt	7	10	3	2			TCGA-EL-A4K0-01A-11D-A257-08	TCGA-EL-A4K0-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220d117b-cc76-4c53-8f51-5eee3409a703	939a3085-5656-44fb-a757-67e40ab49b32	g.chr13:94482634A>C	ENST00000377047.4	+	3	1162	c.547A>C	c.(547-549)Agt>Cgt	p.S183R	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	183					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GTATCACTTCAGTGAAGACTA	0.493																																						ENST00000377047.4																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38						c.(547-549)Agt>Cgt		glypican 6							100	96	98					13																	94482634		2203	4300	6503	SO:0001583	missense	10082					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:94482634A>C	AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"Proteoglycans / Cell Surface : Glypicans"	4454	protein-coding gene	gene with protein product	"glypican proteoglycan 6"	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.547A>C	13.37:g.94482634A>C	ENSP00000366246:p.Ser183Arg					GPC6-AS2_ENST00000445540.1_RNA	p.S183R	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN			3	1162	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)	183					A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	ENST00000377047.4	37	c.547A>C	CCDS9469.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.047041	0.75846	.	.	ENSG00000183098	ENST00000377047	T	0.53640	0.61	5.53	5.53	0.82687	.	0.056923	0.64402	D	0.000002	T	0.61311	0.2337	M	0.74647	2.275	0.41118	D	0.985792	P;P	0.52463	0.953;0.592	P;P	0.57620	0.752;0.824	T	0.64939	-0.6289	10	0.52906	T	0.07	.	9.8801	0.41227	0.7376:0.0:0.0:0.2624	.	183;183	B4E2M1;Q9Y625	.;GPC6_HUMAN	R	183	ENSP00000366246:S183R	ENSP00000366246:S183R	S	+	1	0	GPC6	93280635	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.562000	0.60816	2.240000	0.73641	0.528000	0.53228	AGT		0.493	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045460.4	NM_005708		6	45	0	0	0	1	0	6	45					C	94482634	A	C	94482634	3	2	260	1	0	0	0	0	1	0	0	0	6602	188	7	5	557	5	GPC6	13	94482634	Missense_Mutation	SNP	A	TCGA-EL-A4K0-01A-11D-A257-08		94482634	20687244	9	5585											
BCKDK	10295	broad.mit.edu	37	chr16	31122082	31122082	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagtgggtggactttgccaGgtgaggcaagaatggctcag	17	6	1	2			TCGA-EL-A4K0-01A-11D-A257-08	TCGA-EL-A4K0-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220d117b-cc76-4c53-8f51-5eee3409a703	939a3085-5656-44fb-a757-67e40ab49b32	g.chr16:31122082G>T	ENST00000394951.1	+	9	1339	c.716G>T	c.(715-717)aGa>aTa	p.R239I	BCKDK_ENST00000219794.6_Splice_Site_p.R239I|BCKDK_ENST00000394950.3_Splice_Site_p.R239I|BCKDK_ENST00000287507.3_Splice_Site_p.R239I|AC135050.1_ENST00000517000.2_RNA			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	239	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				branched-chain amino acid catabolic process (GO:0009083)|cellular amino acid catabolic process (GO:0009063)|phosphorylation (GO:0016310)|protein phosphorylation (GO:0006468)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrion (GO:0005739)	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity (GO:0047323)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|stomach(1)	2						GACTTTGCCAGGTGAGGCAAG	0.577																																						ENST00000394951.1																			0				breast(1)|stomach(1)	2						c.e9+1		branched chain ketoacid dehydrogenase kinase							85	87	86					16																	31122082		2197	4300	6497	SO:0001630	splice_region_variant	10295				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity	g.chr16:31122082G>T	AF026548	CCDS10705.1, CCDS45467.1, CCDS61917.1	16p11.2	2008-05-14			ENSG00000103507	ENSG00000103507			16902	protein-coding gene	gene with protein product		614901				1889817	Standard	NM_005881		Approved		uc002eaw.5	O14874	OTTHUMG00000047356	ENST00000394951.1:c.716+1G>T	16.37:g.31122082G>T						BCKDK_ENST00000287507.3_Splice_Site_p.R239_splice|BCKDK_ENST00000219794.6_Splice_Site_p.R239_splice|BCKDK_ENST00000394950.3_Splice_Site_p.R239_splice	p.R239_splice			O14874	BCKD_HUMAN			9	1339	+			239			Histidine kinase.		A8MY43|Q6FGL4|Q96G95|Q96IN5	Splice_Site	SNP	ENST00000394951.1	37	c.716_splice	CCDS10705.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.812349	0.90707	.	.	ENSG00000103507	ENST00000394951;ENST00000219794;ENST00000394950;ENST00000287507	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	4.58	4.58	0.56647	ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.88291	0.6397	M	0.87180	2.865	0.80722	D	1	D;D	0.71674	0.998;0.996	P;P	0.61940	0.896;0.758	D	0.90330	0.4351	10	0.66056	D	0.02	-5.6488	16.6791	0.85287	0.0:0.0:1.0:0.0	.	239;239	Q96G95;O14874	.;BCKD_HUMAN	I	239	ENSP00000378405:R239I;ENSP00000219794:R239I;ENSP00000378404:R239I;ENSP00000287507:R239I	ENSP00000219794:R239I	R	+	2	0	BCKDK	31029583	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	8.283000	0.89909	2.536000	0.85505	0.563000	0.77884	AGA		0.577	BCKDK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108514.1	NM_005881	Missense_Mutation	40	57	1	0	9.88483e-10	1	1.08262e-09	40	57					T	31122082	G	T	31122082	5	4	260	1	0	0	0	0	0	0	1	0	1361	1014	35	4	742	4	BCKDK	16	31122082	Splice_Site	SNP	G	TCGA-EL-A4K0-01A-11D-A257-08		31122082	59232671	10	5586											
SSX1	6756	broad.mit.edu	37	chrX	48118021	48118021	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtaataaacaggccacagacTtccaggggaatgattttgat	10	7	0	3			TCGA-EL-A4K0-01A-11D-A257-08	TCGA-EL-A4K0-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220d117b-cc76-4c53-8f51-5eee3409a703	939a3085-5656-44fb-a757-67e40ab49b32	g.chrX:48118021T>A	ENST00000376919.3	+	4	371	c.235T>A	c.(235-237)Ttc>Atc	p.F79I		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	79	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						GGCCACAGACTTCCAGGGGAA	0.453			T	SS18	synovial sarcoma																																Esophageal Squamous(175;994 1982 2214 6527 18857)	ENST00000376919.3				Dom	yes		X	Xp11.23-p11.22	6756	T	"synovial sarcoma, X breakpoint 1"			M	SS18		synovial sarcoma	SS18/SSX1(1169)|SS18L1/SSX1(2)	0				endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						c.(235-237)Ttc>Atc		synovial sarcoma, X breakpoint 1							172	159	164					X																	48118021		2203	4299	6502	SO:0001583	missense	6756				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity	g.chrX:48118021T>A	BC001003	CCDS14290.1	Xp11.23	2009-03-12			ENSG00000126752	ENSG00000126752			11335	protein-coding gene	gene with protein product	"cancer/testis antigen family 5, member 1"	312820				7655467	Standard	NM_005635		Approved	CT5.1	uc004djb.1	Q16384	OTTHUMG00000021488	ENST00000376919.3:c.235T>A	X.37:g.48118021T>A	ENSP00000366118:p.Phe79Ile						p.F79I	NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN			4	371	+			79			KRAB-related.		A3KN76|Q08AJ2|Q5JQ64	Missense_Mutation	SNP	ENST00000376919.3	37	c.235T>A	CCDS14290.1	.	.	.	.	.	.	.	.	.	.	N	6.249	0.414123	0.11870	.	.	ENSG00000126752	ENST00000376919	T	0.06371	3.31	2.11	0.92	0.19397	Krueppel-associated box (1);Krueppel-associated box-related (1);	0.830876	0.10413	N	0.677726	T	0.06188	0.0160	L	0.57536	1.79	0.09310	N	1	B	0.29909	0.261	B	0.26969	0.075	T	0.41662	-0.9496	10	0.23302	T	0.38	.	3.4777	0.07590	0.0:0.2181:0.0:0.7819	.	79	Q16384	SSX1_HUMAN	I	79	ENSP00000366118:F79I	ENSP00000366118:F79I	F	+	1	0	SSX1	48002965	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.245000	0.08890	0.177000	0.19895	0.305000	0.20034	TTC		0.453	SSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056485.1	NM_005635		62	94	0	0	0	1	0	62	94					A	48118021	T	A	48118021	3	1	260	1	0	0	0	0	1	0	0	0	15202	1609	56	5	245	5	SSX1	23	48118021	Missense_Mutation	SNP	T	TCGA-EL-A4K0-01A-11D-A257-08		48118021	107152539	11	5587											
UBE2U	148581	broad.mit.edu	37	chr1	64676469	64676469	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtatagactttttggacaacCctgagaagtggaatacaaac	9	7	0	2	rs192044358		TCGA-EL-A4K1-01A-11D-A257-08	TCGA-EL-A4K1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad7e48d-ad2d-4b88-841b-8dcf2ac88399	5d6424d3-35dc-4aa9-9490-d60a5fb0ee44	g.chr1:64676469C>A	ENST00000371076.3	+	4	530	c.286C>A	c.(286-288)Cct>Act	p.P96T		NM_152489.1	NP_689702.1	Q5VVX9	UBE2U_HUMAN	ubiquitin-conjugating enzyme E2U (putative)	96					protein ubiquitination (GO:0016567)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			large_intestine(3)|lung(2)|skin(1)	6						TTTGGACAACCCTGAGAAGTG	0.308																																						ENST00000371077.4																			0				large_intestine(3)|lung(2)|skin(1)	6						c.(286-288)Cct>Act		ubiquitin-conjugating enzyme E2U (putative)							84	79	81					1																	64676469		2203	4300	6503	SO:0001583	missense	148581						ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr1:64676469C>A	BC029895	CCDS627.1	1p31.3	2008-02-05			ENSG00000177414	ENSG00000177414		"Ubiquitin-conjugating enzymes E2"	28559	protein-coding gene	gene with protein product						12477932	Standard	NM_152489		Approved	MGC35130	uc001dbn.1	Q5VVX9	OTTHUMG00000009023	ENST00000371076.3:c.286C>A	1.37:g.64676469C>A	ENSP00000360116:p.Pro96Thr					UBE2U_ENST00000371076.3_Missense_Mutation_p.P96T	p.P96T			Q5VVX9	UBE2U_HUMAN			4	710	+			96					Q8N1D4	Missense_Mutation	SNP	ENST00000371076.3	37	c.286C>A	CCDS627.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	6.713	0.500165	0.12762	.	.	ENSG00000177414	ENST00000371077;ENST00000371076	T;T	0.35421	1.31;1.31	5.5	2.61	0.31194	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.354685	0.24532	N	0.037718	T	0.36826	0.0981	M	0.89785	3.06	0.09310	N	1	P	0.47253	0.892	P	0.52267	0.694	T	0.35773	-0.9775	10	0.87932	D	0	.	4.4081	0.11420	0.1799:0.6382:0.0:0.182	.	96	Q5VVX9	UBE2U_HUMAN	T	96	ENSP00000360117:P96T;ENSP00000360116:P96T	ENSP00000360116:P96T	P	+	1	0	UBE2U	64449057	0.000000	0.05858	0.023000	0.16930	0.033000	0.12548	0.451000	0.21779	0.685000	0.31468	0.561000	0.74099	CCT		0.308	UBE2U-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025005.1	NM_152489		3	41	1	0	0.115264	1	0.115264	3	41					A	64676469	C	A	64676469	3	1	261	1	0	0	0	0	1	0	0	0	16871	623	22	4	300	4	UBE2U	1	64676469	Missense_Mutation	SNP	C	TCGA-EL-A4K1-01A-11D-A257-08		64676469	184574152	1	5588											
NBPF9	400818	broad.mit.edu	37	chr1	144823868	144823868	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtcttgcaggactcactgTatagatgttattcaactcct	7	9	3	1	rs61807127		TCGA-EL-A4K1-01A-11D-A257-08	TCGA-EL-A4K1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad7e48d-ad2d-4b88-841b-8dcf2ac88399	5d6424d3-35dc-4aa9-9490-d60a5fb0ee44	g.chr1:144823868T>G	ENST00000281815.8	+	9	936	c.190T>G	c.(190-192)Tat>Gat	p.Y64D	NBPF9_ENST00000338347.4_Missense_Mutation_p.Y379D|NBPF9_ENST00000440491.2_Missense_Mutation_p.Y379D|NBPF9_ENST00000468645.1_3'UTR			Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	712						cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						GGACTCACTGTATAGATGTTA	0.478																																						ENST00000440491.2																			0				NS(2)|prostate(1)	3						c.(1135-1137)Tat>Gat		neuroblastoma breakpoint family, member 9																																				SO:0001583	missense	400818							g.chr1:144823868T>G		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"neuroblastoma breakpoint family"	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000281815.8:c.190T>G	1.37:g.144823868T>G	ENSP00000281815:p.Tyr64Asp					NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.Y379D|NBPF9_ENST00000281815.8_Missense_Mutation_p.Y64D	p.Y379D	NM_001037675.2	NP_001032764.1					9	1135	+									Missense_Mutation	SNP	ENST00000281815.8	37	c.1135T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0|0	-2.727028|-2.727028	0.00091|0.00091	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000375552|ENST00000338347;ENST00000440491;ENST00000281815	.|T;T;T	.|0.03035	.|4.07;4.07;4.07	0.431|0.431	0.431|0.431	0.16523|0.16523	.|.	.|.	.|.	.|.	.|.	T|T	0.00356|0.00356	0.0011|0.0011	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.43814|0.43814	-0.9368|-0.9368	3|5	.|0.02654	.|T	.|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	W|D	377|379;379;64	.|ENSP00000342975:Y379D;ENSP00000390934:Y379D;ENSP00000281815:Y64D	.|ENSP00000281815:Y64D	C|Y	+|+	3|1	2|0	NBPF9|NBPF9	143535225|143535225	0.130000|0.130000	0.22417|0.22417	0.001000|0.001000	0.08648|0.08648	0.032000|0.032000	0.12392|0.12392	-0.055000|-0.055000	0.11807|0.11807	-0.397000|-0.397000	0.07691|0.07691	-1.044000|-1.044000	0.02363|0.02363	TGT|TAT		0.478	NBPF9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037675		3	30	0	0	0	1	0	3	30					G	144823868	T	G	144823868	3	3	261	1	0	0	0	0	1	0	0	0	10199	1638	57	5	1961	5	NBPF9	1	144823868	Missense_Mutation	SNP	T	TCGA-EL-A4K1-01A-11D-A257-08	80147399	144823868	104426753	2	5589											
PRSS45	29122	broad.mit.edu	37	chr3	46784402	46784402	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaacctcccagaaactcaCatagcacaagttttccccat	4	15	1	2	rs556551810		TCGA-EL-A4K1-01A-11D-A257-08	TCGA-EL-A4K1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad7e48d-ad2d-4b88-841b-8dcf2ac88399	5d6424d3-35dc-4aa9-9490-d60a5fb0ee44	g.chr3:46784402C>T	ENST00000460241.1	-	4	1129				PRSS45_ENST00000442359.2_Splice_Site			Q9UI38	TSP50_HUMAN	protease, serine, 50						proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						CAGAAACTCACATAGCACAAG	0.582																																					Pancreas(41;915 1239 11561 17469)	ENST00000442359.2																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.e3+1		protease, serine, 45							57	58	57					3																	46784402		1958	4128	6086	SO:0001627	intron_variant	377047				proteolysis		serine-type endopeptidase activity	g.chr3:46784402C>T	AF100707	CCDS2745.1	3p21.31	2011-05-24			ENSG00000206549	ENSG00000206549		"Serine peptidases / Serine peptidases"	17910	protein-coding gene	gene with protein product	"cancer/testis antigen 20", "testes specific protease 50"	607950				10397268	Standard	NM_013270		Approved	TSP50, CT20	uc003cqe.1	Q9UI38	OTTHUMG00000164067	ENST00000460241.1:c.541+5712G>A	3.37:g.46784402C>T						PRSS50_ENST00000460241.1_Intron		NM_199183.2	NP_954652.2	Q7RTY3	PRS45_HUMAN			3	453	-									Splice_Site	SNP	ENST00000460241.1	37		CCDS2745.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.937802	0.52972	.	.	ENSG00000188086	ENST00000331814;ENST00000442359	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2786	0.49181	0.0:0.8154:0.1846:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRSS45	46759406	1.000000	0.71417	0.942000	0.38095	0.797000	0.45037	3.681000	0.54648	2.623000	0.88846	0.655000	0.94253	.		0.582	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354544.1			9	16	0	0	0	1	0	9	16					T	46784402	C	T	46784402	1	4	261	0	1	0	0	0	0	0	0	0	12629	492	17	2		2	PRSS45	3	46784402	Intron	SNP	C	TCGA-EL-A4K1-01A-11D-A257-08		46784402	151238028	3	5590											
CACNA1D	776	broad.mit.edu	37	chr3	53810919	53810919	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acaccttgatgtggtcactcTgcttcgacgcatccagcctc	8	15	2	1			TCGA-EL-A4K1-01A-11D-A257-08	TCGA-EL-A4K1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad7e48d-ad2d-4b88-841b-8dcf2ac88399	5d6424d3-35dc-4aa9-9490-d60a5fb0ee44	g.chr3:53810919T>A	ENST00000350061.5	+	37	5034	c.4523T>A	c.(4522-4524)cTg>cAg	p.L1508Q	CACNA1D_ENST00000288139.4_Missense_Mutation_p.L1528Q|CACNA1D_ENST00000540742.1_Missense_Mutation_p.L400Q|CACNA1D_ENST00000422281.2_Missense_Mutation_p.L1493Q	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1508					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|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 potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GTGGTCACTCTGCTTCGACGC	0.527																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(4582-4584)cTg>cAg		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						141	118	126					3																	53810919		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53810919T>A	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.4523T>A	3.37:g.53810919T>A	ENSP00000288133:p.Leu1508Gln					CACNA1D_ENST00000350061.5_Missense_Mutation_p.L1508Q|CACNA1D_ENST00000422281.2_Missense_Mutation_p.L1493Q|CACNA1D_ENST00000540742.1_Missense_Mutation_p.L400Q	p.L1528Q	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	38	4701	+			1508					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.4583T>A	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.808185	0.90707	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000540742	D;D;D;T;T	0.98075	-4.65;-4.7;-4.68;2.79;2.79	5.43	5.43	0.79202	.	0.000000	0.56097	D	0.000035	D	0.98789	0.9592	M	0.87456	2.885	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;1.0	D;D;D;D;D	0.85130	0.993;0.979;0.993;0.984;0.997	D	0.99823	1.1048	10	0.87932	D	0	.	15.4778	0.75497	0.0:0.0:0.0:1.0	.	1493;400;1201;1508;1528	B0FYA3;F5H313;Q59GD8;Q01668;Q01668-2	.;.;.;CAC1D_HUMAN;.	Q	1508;1528;1493;1201;400	ENSP00000288133:L1508Q;ENSP00000288139:L1528Q;ENSP00000409174:L1493Q;ENSP00000418014:L1201Q;ENSP00000438229:L400Q	ENSP00000288139:L1528Q	L	+	2	0	CACNA1D	53785959	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.040000	0.89188	2.053000	0.61076	0.460000	0.39030	CTG		0.527	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		7	45	0	0	0	1	0	7	45					A	53810919	T	A	53810919	3	1	261	1	0	0	0	0	1	0	0	0	2541	1580	55	5	4841	5	CACNA1D	3	53810919	Missense_Mutation	SNP	T	TCGA-EL-A4K1-01A-11D-A257-08	7026517	53810919	144211511	4	5591											
CWH43	80157	broad.mit.edu	37	chr4	49063893	49063893	+	Frame_Shift_Del	DEL	A	A	-													attttcatatgaatactcccAaatactttttatgaaacatt					rs376806787|rs538616012	byFrequency	TCGA-EL-A4K1-01A-11D-A257-08	TCGA-EL-A4K1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad7e48d-ad2d-4b88-841b-8dcf2ac88399	5d6424d3-35dc-4aa9-9490-d60a5fb0ee44	g.chr4:49063893delA	ENST00000226432.4	+	16	2269	c.2086delA	c.(2086-2088)aaafs	p.K696fs	CWH43_ENST00000513409.1_Frame_Shift_Del_p.K669fs	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	696					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GAATACTCCCAAATACTTTTT	0.254													|||unknown(NO_COVERAGE)	14	0.00279553	0.0015	0	5008	,	,		15462	0		0.007	False		,,,				2504	0.0051					ENST00000226432.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(2086-2088)aafs		cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)				6,4212		0,6,2103	25	24	24			-0.2	1.0	4		25	69,8059		0,69,3995	no	frameshift	CWH43	NM_025087.2		0,75,6098	A1A1,A1R,RR		0.8489,0.1422,0.6075			49063893	75,12271	2182	4240	6422	SO:0001589	frameshift_variant	80157				GPI anchor biosynthetic process	integral to membrane		g.chr4:49063893delA		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.2086delA	4.37:g.49063893delA	ENSP00000226432:p.Lys696fs					CWH43_ENST00000513409.1_Frame_Shift_Del_p.K669fs	p.K696fs	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN			16	2269	+			696					B2RPD7	Frame_Shift_Del	DEL	ENST00000226432.4	37	c.2086delA	CCDS3486.1																																																																																				0.254	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087		11	16						11	16	---	---	---	---	-	49063893	A	-	49063893	7	5	261	1	0	1	0	1	0	0	0	0	4073	131	5	0	2148	0	CWH43	4	49063893	Frame_Shift_Del	DEL	A	TCGA-EL-A4K1-01A-11D-A257-08		49063893	142090383	5	5592											
JMY	133746	broad.mit.edu	37	chr5	78610535	78610535	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagagacactggagaaagaTctgcctagaaaggaggggaa	14	7	1	4			TCGA-EL-A4K1-01A-11D-A257-08	TCGA-EL-A4K1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad7e48d-ad2d-4b88-841b-8dcf2ac88399	5d6424d3-35dc-4aa9-9490-d60a5fb0ee44	g.chr5:78610535T>G	ENST00000396137.4	+	9	2982	c.2520T>G	c.(2518-2520)gaT>gaG	p.D840E	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	840					'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)		TGGAGAAAGATCTGCCTAGAA	0.592																																						ENST00000396137.4																			0				endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16						c.(2518-2520)gaT>gaG		junction mediating and regulatory protein, p53 cofactor							36	37	37					5																	78610535		1969	4155	6124	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.chr5:78610535T>G	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.2520T>G	5.37:g.78610535T>G	ENSP00000379441:p.Asp840Glu					JMY_ENST00000412001.1_Intron	p.D840E	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)	9	2982	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	840					A1L4P5|B5MDS2|B5MDT0	Missense_Mutation	SNP	ENST00000396137.4	37	c.2520T>G	CCDS4047.3	.	.	.	.	.	.	.	.	.	.	T	3.560	-0.089903	0.07053	.	.	ENSG00000152409	ENST00000282259;ENST00000396137	T	0.51574	0.7	4.91	-4.47	0.03525	.	0.439613	0.23830	N	0.044157	T	0.20820	0.0501	N	0.22421	0.69	0.09310	N	1	B	0.22211	0.066	B	0.24006	0.05	T	0.38178	-0.9673	10	0.02654	T	1	.	6.4382	0.21835	0.0:0.3031:0.3255:0.3715	.	840	Q8N9B5	JMY_HUMAN	E	829;840	ENSP00000379441:D840E	ENSP00000282259:D829E	D	+	3	2	JMY	78646291	0.009000	0.17119	0.015000	0.15790	0.913000	0.54294	-0.514000	0.06298	-0.365000	0.08076	0.528000	0.53228	GAT		0.592	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	NM_152405		4	40	0	0	0	1	0	4	40					G	78610535	T	G	78610535	3	3	261	1	0	0	0	0	1	0	0	0	7957	1432	50	5	2554	5	JMY	5	78610535	Missense_Mutation	SNP	T	TCGA-EL-A4K1-01A-11D-A257-08		78610535	102304725	6	5593											
C6orf170	221322	broad.mit.edu	37	chr6	121544383	121544383	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttaaagaaaatgacttacaAtaacacatgttgggacttca	6	6	1	2			TCGA-EL-A4K1-01A-11D-A257-08	TCGA-EL-A4K1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad7e48d-ad2d-4b88-841b-8dcf2ac88399	5d6424d3-35dc-4aa9-9490-d60a5fb0ee44	g.chr6:121544383A>G	ENST00000398212.2	-	21	2529	c.2480T>C	c.(2479-2481)aTt>aCt	p.I827T	TBC1D32_ENST00000275159.6_Splice_Site_p.I827T|TBC1D32_ENST00000398197.2_5'UTR	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	827					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										ATGACTTACAATAACACATGT	0.299																																						ENST00000275159.6																			0											c.e21+1		TBC1 domain family, member 32							85	79	81					6																	121544383		1800	4078	5878	SO:0001630	splice_region_variant	221322							g.chr6:121544383A>G	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"broad-minded homolog"	615867	"chromosome 6 open reading frame 171", "chromosome 6 open reading frame 170"	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.2481+1T>C	6.37:g.121544383A>G						TBC1D32_ENST00000398212.2_Splice_Site_p.I827_splice|TBC1D32_ENST00000398197.2_5'UTR	p.I827_splice							21	2479	-								Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Splice_Site	SNP	ENST00000398212.2	37	c.2481_splice	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	A	8.206	0.799311	0.16397	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.21191	2.02;2.02	5.64	3.29	0.37713	.	0.441828	0.27164	N	0.020632	T	0.09379	0.0231	M	0.67953	2.075	0.34152	D	0.667675	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.03945	-1.0990	10	0.46703	T	0.11	.	7.1119	0.25395	0.8037:0.0:0.1963:0.0	.	827;827	Q96NH3-4;Q96NH3	.;BROMI_HUMAN	T	827	ENSP00000275159:I827T;ENSP00000381270:I827T	ENSP00000275159:I827T	I	-	2	0	C6orf170	121586082	0.993000	0.37304	0.187000	0.23214	0.991000	0.79684	1.588000	0.36633	0.508000	0.28173	0.533000	0.62120	ATT		0.299	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730	Missense_Mutation	23	32	0	0	0	1	0	23	32					G	121544383	A	G	121544383	5	3	261	1	0	0	0	0	0	0	1	0	2344	115	4	3	1341	3	C6orf170	6	121544383	Splice_Site	SNP	A	TCGA-EL-A4K1-01A-11D-A257-08		121544383	49570684	7	5594											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A4K1-01A-11D-A257-08	TCGA-EL-A4K1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad7e48d-ad2d-4b88-841b-8dcf2ac88399	5d6424d3-35dc-4aa9-9490-d60a5fb0ee44	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		46	45	0	0	0	1	0	46	45					T	140453136	A	T	140453136	3	4	261	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A4K1-01A-11D-A257-08		140453136	18685527	8	5595											
BHLHE22	27319	broad.mit.edu	37	chr8	65494021	65494023	+	In_Frame_Del	DEL	GCA	GCA	-													tagcggtagcggcagcggcgGcagcagcagcagcagcagca					rs62519837		TCGA-EL-A4K1-01A-11D-A257-08	TCGA-EL-A4K1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad7e48d-ad2d-4b88-841b-8dcf2ac88399	5d6424d3-35dc-4aa9-9490-d60a5fb0ee44	g.chr8:65494021_65494023delGCA	ENST00000321870.1	+	1	1208_1210	c.674_676delGCA	c.(673-678)ggcagc>ggc	p.S234del	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	234	Ser-rich.				anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.S234delS(1)|p.S226G(1)		NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						ggcagcggcggcagcagcagcag	0.709																																					Colon(113;104 1586 2865 9855 18065)	ENST00000321870.1																			2	Substitution - Missense(1)|Deletion - In frame(1)	p.S234delS(1)|p.S226G(1)	central_nervous_system(1)|skin(1)	NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						c.(673-678)ggc>g		basic helix-loop-helix family, member e22																																				SO:0001651	inframe_deletion	27319				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr8:65494021_65494023delGCA	U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"Basic helix-loop-helix proteins"	11963	protein-coding gene	gene with protein product		613483	"trinucleotide repeat containing 20", "basic helix-loop-helix domain containing, class B, 5"	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.674_676delGCA	8.37:g.65494030_65494032delGCA	ENSP00000318799:p.Ser234del					RP11-21C4.1_ENST00000517909.1_RNA	p.GS225del	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN			1	1208_1210	+			225			Gly-rich.|Ser-rich.			In_Frame_Del	DEL	ENST00000321870.1	37	c.674_676delGCA	CCDS6179.1																																																																																				0.709	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378549.1	NM_152414		2	4						2	4	---	---	---	---	-	65494023	GCA	-	65494021	7	5	261	1	0	1	0	1	0	0	0	0	1421	1203	42	0	676	0	BHLHE22	8	65494021	In_Frame_Del	DEL	GCA	TCGA-EL-A4K1-01A-11D-A257-08		65494021	80870001	9	5596											
CYC1	1537	broad.mit.edu	37	chr8	145150795	145150795	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaaagtgatgctgtcagcGctgggcatgctggcggcagg	18	9	1	1	rs146030978		TCGA-EL-A4K1-01A-11D-A257-08	TCGA-EL-A4K1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad7e48d-ad2d-4b88-841b-8dcf2ac88399	5d6424d3-35dc-4aa9-9490-d60a5fb0ee44	g.chr8:145150795G>A	ENST00000318911.4	+	2	262	c.189G>A	c.(187-189)gcG>gcA	p.A63A		NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	63					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)			TGCTGTCAGCGCTGGGCATGC	0.662											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.(187-189)gcG>gcA		cytochrome c-1		G		2,4404	4.2+/-10.8	0,2,2201	69	70	70		189	2.0	1.0	8	dbSNP_134	70	0,8600		0,0,4300	no	coding-synonymous	CYC1	NM_001916.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		63/326	145150795	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	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.chr8:145150795G>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.189G>A	8.37:g.145150795G>A			OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1692		p.A63A	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)		2	262	+	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)		63					Q5U062|Q6FHS7	Silent	SNP	ENST00000318911.4	37	c.189G>A	CCDS6415.1																																																																																				0.662	CYC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382895.1	NM_001916		7	63	0	0	0	1	0	7	63					A	145150795	G	A	145150795	2	1	261	1	0	0	0	0	0	0	0	1	4135	1074	38	1		1	CYC1	8	145150795	Silent	SNP	G	TCGA-EL-A4K1-01A-11D-A257-08	79656774	145150795	1213227	10	5597											
ABO	28	broad.mit.edu	37	chr9	136131300	136131300	+	RNA	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gccgctgcacctcttgcaccGaccccccgaagaaccccccc	7	23	1	1			TCGA-EL-A4K1-01A-11D-A257-08	TCGA-EL-A4K1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad7e48d-ad2d-4b88-841b-8dcf2ac88399	5d6424d3-35dc-4aa9-9490-d60a5fb0ee44	g.chr9:136131300G>C	ENST00000453660.2	-	0	828				RP11-430N14.4_ENST00000606717.1_RNA			P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation (GO:0006486)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosylgalactoside 3-alpha-galactosyltransferase activity (GO:0004381)|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity (GO:0004380)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		CTCTTGCACCGACCCCCCGAA	0.677																																						ENST00000453660.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11								ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)							27	30	29					9																	136131300		2022	4184	6206			28				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr9:136131300G>C	AF134415		9q34.2	2014-07-19			ENSG00000175164	ENSG00000175164	2.4.1.40, 2.4.1.37	"Blood group antigens", "Glycosyltransferase family 6 domain containing"	79	protein-coding gene	gene with protein product		110300				184030	Standard	NM_020469		Approved	A3GALNT, A3GALT1	uc004cda.1	P16442	OTTHUMG00000020872		9.37:g.136131300G>C										P16442	BGAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)	0	828	-								B0JDB9|O14758|Q14490|Q53I57|Q6ISD4|Q6KFZ2|Q70V27|Q99484|Q99485|Q9NY01|Q9UQ68|Q9UQ69	RNA	SNP	ENST00000453660.2	37																																																																																						0.677	ABO-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000054907.4	NM_020469		3	18	0	0	0	1	0	3	18					C	136131300	G	C	136131300	1	2	261	0	1	0	0	0	0	0	0	0	97	1059	37	4		4	ABO	9	136131300	RNA	SNP	G	TCGA-EL-A4K1-01A-11D-A257-08		136131300	5082131	11	5598											
ST5	6764	broad.mit.edu	37	chr11	8747678	8747678	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggatccaaacttgggttgGttctcagtaccattctcagt	9	9	2	0			TCGA-EL-A4K1-01A-11D-A257-08	TCGA-EL-A4K1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad7e48d-ad2d-4b88-841b-8dcf2ac88399	5d6424d3-35dc-4aa9-9490-d60a5fb0ee44	g.chr11:8747678G>A	ENST00000534127.1	-	7	1804	c.1419C>T	c.(1417-1419)aaC>aaT	p.N473N	ST5_ENST00000313726.6_Silent_p.N473N|ST5_ENST00000530438.1_Silent_p.N53N|ST5_ENST00000357665.1_Silent_p.N473N|ST5_ENST00000526757.1_Silent_p.N53N	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	473					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		ACTTGGGTTGGTTCTCAGTAC	0.478																																						ENST00000534127.1																			0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(1417-1419)aaC>aaT		suppression of tumorigenicity 5							146	135	139					11																	8747678		2201	4296	6497	SO:0001819	synonymous_variant	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8747678G>A	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"DENN/MADD domain containing"	11350	protein-coding gene	gene with protein product	"DENN/MADD domain containing 2B"	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.1419C>T	11.37:g.8747678G>A						ST5_ENST00000526757.1_Silent_p.N53N|ST5_ENST00000530438.1_Silent_p.N53N|ST5_ENST00000357665.1_Silent_p.N473N|ST5_ENST00000313726.6_Silent_p.N473N	p.N473N	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	7	1804	-			473					B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Silent	SNP	ENST00000534127.1	37	c.1419C>T	CCDS7791.1																																																																																				0.478	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		12	94	0	0	0	1	0	12	94					A	8747678	G	A	8747678	2	1	261	1	0	0	0	0	0	0	0	1	15219	1252	44	2		2	ST5	11	8747678	Silent	SNP	G	TCGA-EL-A4K1-01A-11D-A257-08		8747678	126258838	12	5599											
C11orf41	25758	broad.mit.edu	37	chr11	33564403	33564403	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcaggggccatagaaatgAccagcagaaagctagcctct	10	10	2	3			TCGA-EL-A4K1-01A-11D-A257-08	TCGA-EL-A4K1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad7e48d-ad2d-4b88-841b-8dcf2ac88399	5d6424d3-35dc-4aa9-9490-d60a5fb0ee44	g.chr11:33564403A>G	ENST00000321505.4	+	1	583	c.403A>G	c.(403-405)Acc>Gcc	p.T135A	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.T135A|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.T135A			Q6ZVL6	K154L_HUMAN	KIAA1549-like	135						integral component of membrane (GO:0016021)											CATAGAAATGACCAGCAGAAA	0.522											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000321505.4																			0											c.(403-405)Acc>Gcc		KIAA1549-like							45	46	46					11																	33564403		1913	4114	6027	SO:0001583	missense	25758							g.chr11:33564403A>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.403A>G	11.37:g.33564403A>G	ENSP00000315295:p.Thr135Ala		OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	841	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.T135A|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.T135A	p.T135A							1	583	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.403A>G	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	A	10.11	1.260939	0.23051	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654	.	.	.	5.53	1.9	0.25705	.	.	.	.	.	T	0.16128	0.0388	N	0.12182	0.205	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.10450	0.005;0.003	T	0.32268	-0.9913	8	0.09843	T	0.71	.	4.6743	0.12705	0.6699:0.1639:0.1662:0.0	.	135;135	E9PAT2;Q6ZVL6-2	.;.	A	135	.	ENSP00000265654:T135A	T	+	1	0	C11orf41	33520979	0.004000	0.15560	0.028000	0.17463	0.078000	0.17371	1.195000	0.32186	0.360000	0.24265	0.459000	0.35465	ACC		0.522	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		3	44	0	0	0	1	0	3	44					G	33564403	A	G	33564403	3	3	261	1	0	0	0	0	1	0	0	0	1640	275	10	3	405	3	C11orf41	11	33564403	Missense_Mutation	SNP	A	TCGA-EL-A4K1-01A-11D-A257-08	24816725	33564403	101442113	13	5600											
ATRX	546	broad.mit.edu	37	chrX	76875995	76875995	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcatcacaaacaacaaaatCagggcctacaaaaataaaca	3	10	3	0			TCGA-EL-A4K1-01A-11D-A257-08	TCGA-EL-A4K1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad7e48d-ad2d-4b88-841b-8dcf2ac88399	5d6424d3-35dc-4aa9-9490-d60a5fb0ee44	g.chrX:76875995C>A	ENST00000373344.5	-	20	5354	c.5140G>T	c.(5140-5142)Gat>Tat	p.D1714Y	ATRX_ENST00000395603.3_Missense_Mutation_p.D1676Y|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1714	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ACAACAAAATCAGGGCCTACA	0.284			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(5140-5142)Gat>Tat		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						41	34	36					X																	76875995		2198	4292	6490	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76875995C>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5140G>T	X.37:g.76875995C>A	ENSP00000362441:p.Asp1714Tyr					ATRX_ENST00000395603.3_Missense_Mutation_p.D1676Y|ATRX_ENST00000480283.1_5'UTR	p.D1714Y	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			20	5354	-			1714			Helicase ATP-binding.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.5140G>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473958	0.63737	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.93189	-3.18;-3.18	4.47	4.47	0.54385	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.97102	0.9053	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.98166	1.0449	10	0.87932	D	0	-8.1903	16.4458	0.83932	0.0:1.0:0.0:0.0	.	1676;1714	P46100-4;P46100	.;ATRX_HUMAN	Y	1714;1676	ENSP00000362441:D1714Y;ENSP00000378967:D1676Y	ENSP00000362441:D1714Y	D	-	1	0	ATRX	76762651	1.000000	0.71417	0.999000	0.59377	0.698000	0.40448	7.414000	0.80117	1.790000	0.52503	0.544000	0.68410	GAT		0.284	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		6	14	1	0	0.00116845	1	0.00129827	6	14					A	76875995	C	A	76875995	3	1	261	1	0	0	0	0	1	0	0	0	1208	826	29	4	2402	4	ATRX	23	76875995	Missense_Mutation	SNP	C	TCGA-EL-A4K1-01A-11D-A257-08		76875995	78394565	14	5601											
DNAJC11	55735	broad.mit.edu	37	chr1	6696243	6696243	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atgcaggacgccccggaactGatagagcactttcaggttct	11	11	2	2			TCGA-EL-A4K2-01A-11D-A257-08	TCGA-EL-A4K2-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba57094e-ee91-4235-9cfb-88659af9a99e	406c2a3b-2a90-403c-b247-e484b0b313e3	g.chr1:6696243G>C	ENST00000377577.5	-	15	1711	c.1588C>G	c.(1588-1590)Cag>Gag	p.Q530E	DNAJC11_ENST00000542246.1_Missense_Mutation_p.Q492E|DNAJC11_ENST00000294401.7_Missense_Mutation_p.Q478E|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000377573.5_Missense_Mutation_p.Q440E	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	530						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCGGAACTGATAGAGCACT	0.542																																						ENST00000377577.5																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32						c.(1588-1590)Cag>Gag		DnaJ (Hsp40) homolog, subfamily C, member 11							89	77	81					1																	6696243		2203	4300	6503	SO:0001583	missense	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6696243G>C	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"Heat shock proteins / DNAJ (HSP40)"	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.1588C>G	1.37:g.6696243G>C	ENSP00000366800:p.Gln530Glu					DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000542246.1_Missense_Mutation_p.Q492E|DNAJC11_ENST00000377573.5_Missense_Mutation_p.Q440E|DNAJC11_ENST00000294401.7_Missense_Mutation_p.Q478E	p.Q530E	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	15	1711	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	530					Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Missense_Mutation	SNP	ENST00000377577.5	37	c.1588C>G	CCDS87.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.402738	0.25291	.	.	ENSG00000007923	ENST00000377577;ENST00000294401;ENST00000542246;ENST00000377573	T;T;T;T	0.21361	2.59;2.62;2.33;2.01	5.52	5.52	0.82312	DnaJ-like protein C11, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.15998	0.0385	L	0.31664	0.95	0.58432	D	0.999999	B;B;B	0.14438	0.01;0.007;0.009	B;B;B	0.17433	0.014;0.018;0.013	T	0.06058	-1.0848	10	0.02654	T	1	-28.1203	18.4484	0.90695	0.0:0.0:1.0:0.0	.	440;478;530	B4DGD5;Q9NVH1-3;Q9NVH1	.;.;DJC11_HUMAN	E	530;478;492;440	ENSP00000366800:Q530E;ENSP00000294401:Q478E;ENSP00000444020:Q492E;ENSP00000366796:Q440E	ENSP00000294401:Q478E	Q	-	1	0	DNAJC11	6618830	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.238000	0.95380	2.590000	0.87494	0.655000	0.94253	CAG		0.542	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		17	35	0	0	0	1	0	17	35					C	6696243	G	C	6696243	3	2	262	1	0	0	0	0	1	0	0	0	4630	1299	45	4	99	4	DNAJC11	1	6696243	Missense_Mutation	SNP	G	TCGA-EL-A4K2-01A-11D-A257-08		6696243	242554378	1	5602											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290	byFrequency	TCGA-EL-A4K2-01A-11D-A257-08	TCGA-EL-A4K2-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba57094e-ee91-4235-9cfb-88659af9a99e	406c2a3b-2a90-403c-b247-e484b0b313e3	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		neuroblastoma RAS viral (v-ras) oncogene homolog							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		67	103	0	0	0	1	0	67	103					C	115256529	T	C	115256529	3	2	262	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-EL-A4K2-01A-11D-A257-08	108560286	115256529	133994092	2	5603											
TRPC3	7222	broad.mit.edu	37	chr4	122853799	122853799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaggggctcagagtgagaCgcttgctggccgcgaagcca	15	12	1	2			TCGA-EL-A4K2-01A-11D-A257-08	TCGA-EL-A4K2-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba57094e-ee91-4235-9cfb-88659af9a99e	406c2a3b-2a90-403c-b247-e484b0b313e3	g.chr4:122853799C>T	ENST00000379645.3	-	2	687	c.614G>A	c.(613-615)cGt>cAt	p.R205H	TRPC3_ENST00000513531.1_Missense_Mutation_p.R132H|TRPC3_ENST00000264811.5_Missense_Mutation_p.R132H	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	120					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CAGAGTGAGACGCTTGCTGGC	0.647																																						ENST00000264811.5																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(394-396)cGt>cAt		transient receptor potential cation channel, subfamily C, member 3							75	67	70					4																	122853799		2203	4300	6503	SO:0001583	missense	7222				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr4:122853799C>T	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"Voltage-gated ion channels / Transient receptor potential cation channels"	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.614G>A	4.37:g.122853799C>T	ENSP00000368966:p.Arg205His					TRPC3_ENST00000513531.1_Missense_Mutation_p.R132H|TRPC3_ENST00000379645.3_Missense_Mutation_p.R205H	p.R132H	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN			1	813	-			120					A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	c.395G>A	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970079	0.92855	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	T;T;T	0.76709	-0.82;-1.04;-0.96	5.81	5.81	0.92471	.	0.127443	0.52532	D	0.000068	D	0.86752	0.6008	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.953;0.996	D	0.86800	0.1991	10	0.72032	D	0.01	-9.2081	20.0804	0.97772	0.0:1.0:0.0:0.0	.	132;205	E9PCJ9;Q5G1L5	.;.	H	132;205;132	ENSP00000264811:R132H;ENSP00000368966:R205H;ENSP00000426899:R132H	ENSP00000264811:R132H	R	-	2	0	TRPC3	123073249	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	4.880000	0.63107	2.738000	0.93877	0.655000	0.94253	CGT		0.647	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305		3	40	0	0	0	1	0	3	40					T	122853799	C	T	122853799	3	4	262	1	0	0	0	0	1	0	0	0	16576	536	19	1	2195	1	TRPC3	4	122853799	Missense_Mutation	SNP	C	TCGA-EL-A4K2-01A-11D-A257-08		122853799	68300477	3	5604											
PDE4D	5144	broad.mit.edu	37	chr5	58511659	58511659	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggagagaggtcataatcGctgtcggatcgatacaggaa	13	6	1	1	rs372078770		TCGA-EL-A4K2-01A-11D-A257-08	TCGA-EL-A4K2-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba57094e-ee91-4235-9cfb-88659af9a99e	406c2a3b-2a90-403c-b247-e484b0b313e3	g.chr5:58511659G>A	ENST00000340635.6	-	2	766	c.591C>T	c.(589-591)agC>agT	p.S197S	PDE4D_ENST00000360047.5_Silent_p.S61S|PDE4D_ENST00000546160.1_Silent_p.S136S|PDE4D_ENST00000503947.1_5'UTR|PDE4D_ENST00000502575.1_Silent_p.S133S|PDE4D_ENST00000405755.2_Silent_p.S75S|PDE4D_ENST00000503258.1_Silent_p.S67S|PDE4D_ENST00000507116.1_Silent_p.S133S|PDE4D_ENST00000502484.2_Silent_p.S136S	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	197					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GGTCATAATCGCTGTCGGATC	0.493																																						ENST00000340635.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15						c.(589-591)agC>agT		phosphodiesterase 4D, cAMP-specific	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	G	,,,,,	1,3791		0,1,1895	115	112	113		591,408,399,225,201,183	1.7	1.0	5		113	2,8248		0,2,4123	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PDE4D	NM_001104631.1,NM_001165899.1,NM_001197218.1,NM_001197219.1,NM_001197220.1,NM_006203.4	,,,,,	0,3,6018	AA,AG,GG		0.0242,0.0264,0.0249	,,,,,	197/810,136/749,133/746,75/688,67/680,61/674	58511659	3,12039	1896	4125	6021	SO:0001819	synonymous_variant	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:58511659G>A		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"Phosphodiesterases"	8783	protein-coding gene	gene with protein product	"phosphodiesterase E3 dunce homolog (Drosophila)"	600129	"phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.591C>T	5.37:g.58511659G>A						PDE4D_ENST00000503947.1_5'UTR|PDE4D_ENST00000507116.1_Silent_p.S133S|PDE4D_ENST00000503258.1_Silent_p.S67S|PDE4D_ENST00000405755.2_Silent_p.S75S|PDE4D_ENST00000360047.5_Silent_p.S61S|PDE4D_ENST00000502484.2_Silent_p.S136S|PDE4D_ENST00000502575.1_Silent_p.S133S|PDE4D_ENST00000546160.1_Silent_p.S136S	p.S197S	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	2	766	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	197					O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Silent	SNP	ENST00000340635.6	37	c.591C>T	CCDS47213.1																																																																																				0.493	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3			4	52	0	0	0	1	0	4	52					A	58511659	G	A	58511659	2	1	262	1	0	0	0	0	0	0	0	1	11642	1078	38	1		1	PDE4D	5	58511659	Silent	SNP	G	TCGA-EL-A4K2-01A-11D-A257-08		58511659	122403601	4	5605											
SLC22A7	10864	broad.mit.edu	37	chr6	43266347	43266347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctcctgcctccgctttgCctatccccaggctctcccca	6	21	1	0			TCGA-EL-A4K2-01A-11D-A257-08	TCGA-EL-A4K2-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba57094e-ee91-4235-9cfb-88659af9a99e	406c2a3b-2a90-403c-b247-e484b0b313e3	g.chr6:43266347C>T	ENST00000372585.5	+	1	346	c.251C>T	c.(250-252)gCc>gTc	p.A84V	SLC22A7_ENST00000487175.1_Intron|SLC22A7_ENST00000372574.3_Missense_Mutation_p.A84V|SLC22A7_ENST00000372589.3_Missense_Mutation_p.A84V	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	84					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	CTCCGCTTTGCCTATCCCCAG	0.652																																						ENST00000372585.5																			0				NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26						c.(250-252)gCc>gTc		solute carrier family 22 (organic anion transporter), member 7							42	41	42					6																	43266347		2203	4300	6503	SO:0001583	missense	10864					basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	g.chr6:43266347C>T	AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"Solute carriers"	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.251C>T	6.37:g.43266347C>T	ENSP00000361666:p.Ala84Val					SLC22A7_ENST00000372574.3_Missense_Mutation_p.A84V|SLC22A7_ENST00000372589.3_Missense_Mutation_p.A84V|SLC22A7_ENST00000487175.1_Intron	p.A84V	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		1	346	+			84					B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	ENST00000372585.5	37	c.251C>T	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	C	4.983	0.182655	0.09495	.	.	ENSG00000137204	ENST00000449231;ENST00000372589;ENST00000372585;ENST00000372574	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.63	3.59	0.41128	Major facilitator superfamily domain (1);	1.126500	0.06478	N	0.732336	T	0.16171	0.0389	N	0.12853	0.265	0.09310	N	1	B;B;B	0.27166	0.17;0.141;0.141	B;B;B	0.32149	0.141;0.087;0.087	T	0.31223	-0.9951	10	0.25106	T	0.35	.	6.2074	0.20610	0.1891:0.6916:0.0:0.1193	.	84;84;84	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	V	84	ENSP00000411818:A84V;ENSP00000361670:A84V;ENSP00000361666:A84V;ENSP00000361655:A84V	ENSP00000361655:A84V	A	+	2	0	SLC22A7	43374325	0.001000	0.12720	0.054000	0.19295	0.985000	0.73830	1.576000	0.36504	1.362000	0.46000	0.563000	0.77884	GCC		0.652	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1			3	43	0	0	0	1	0	3	43					T	43266347	C	T	43266347	3	4	262	1	0	0	0	0	1	0	0	0	14459	739	26	2	253	2	SLC22A7	6	43266347	Missense_Mutation	SNP	C	TCGA-EL-A4K2-01A-11D-A257-08		43266347	127848720	5	5606											
C6orf142	90523	broad.mit.edu	37	chr6	53986246	53986246	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaactacatgtctcataggTctctgctggtggttctgaag	10	8	3	1			TCGA-EL-A4K2-01A-11D-A257-08	TCGA-EL-A4K2-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba57094e-ee91-4235-9cfb-88659af9a99e	406c2a3b-2a90-403c-b247-e484b0b313e3	g.chr6:53986246T>C	ENST00000274897.5	+	2	178	c.65T>C	c.(64-66)gTc>gCc	p.V22A	MLIP_ENST00000358276.5_Splice_Site_p.V16A|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000514921.1_Splice_Site_p.V22A|MLIP_ENST00000502396.1_Splice_Site_p.V33A|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000370876.2_Intron	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	22	Interaction with LMNA.					nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						GTCTCATAGGTCTCTGCTGGT	0.393																																						ENST00000514921.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						c.e2-1		muscular LMNA-interacting protein							123	120	121					6																	53986246		2203	4300	6503	SO:0001630	splice_region_variant	90523					nuclear envelope|PML body	protein binding	g.chr6:53986246T>C	AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"muscle-enriched A-type lamin interacting protein"	614106	"chromosome 6 open reading frame 142"	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.64-1T>C	6.37:g.53986246T>C						MLIP_ENST00000370877.2_Intron|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000502396.1_Splice_Site_p.V33_splice|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000274897.5_Splice_Site_p.V22_splice|MLIP_ENST00000358276.5_Splice_Site_p.V16_splice	p.V22_splice			Q5VWP3	MLIP_HUMAN			2	178	+			22			Interaction with LMNA.		B7Z2N0|D6RE05|Q96H08|Q96NF7	Splice_Site	SNP	ENST00000274897.5	37	c.63_splice	CCDS4954.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.991467	0.74703	.	.	ENSG00000146147	ENST00000274897;ENST00000514921;ENST00000502396;ENST00000358276;ENST00000514433	T;T;T;T;T	0.43294	1.71;1.27;1.3;0.95;1.36	5.13	5.13	0.70059	.	0.099482	0.41001	D	0.000964	T	0.48642	0.1511	M	0.64997	1.995	0.29359	N	0.86482	D;D;D	0.76494	0.999;0.996;0.999	D;D;D	0.80764	0.994;0.986;0.994	T	0.50101	-0.8867	10	0.72032	D	0.01	0.0025	11.5986	0.50988	0.0:0.0:0.0:1.0	.	33;22;22	Q5VWP3-3;Q5VWP3;D6RE05	.;MLIP_HUMAN;.	A	22;22;33;16;23	ENSP00000274897:V22A;ENSP00000425142:V22A;ENSP00000426290:V33A;ENSP00000351019:V16A;ENSP00000421444:V23A	ENSP00000274897:V22A	V	+	2	0	MLIP	54094205	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.309000	0.59135	2.062000	0.61559	0.482000	0.46254	GTC		0.393	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569	Missense_Mutation	20	41	0	0	0	1	0	20	41					C	53986246	T	C	53986246	5	2	262	1	0	0	0	0	0	0	1	0	2333	1681	58	3	71	3	C6orf142	6	53986246	Splice_Site	SNP	T	TCGA-EL-A4K2-01A-11D-A257-08	10719899	53986246	117128821	6	5607											
ZNF703	80139	broad.mit.edu	37	chr8	37555481	37555481	+	Frame_Shift_Del	DEL	G	G	-													gggggcctgggcctgccgccGggcaagccccccagctccag							TCGA-EL-A4K2-01A-11D-A257-08	TCGA-EL-A4K2-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba57094e-ee91-4235-9cfb-88659af9a99e	406c2a3b-2a90-403c-b247-e484b0b313e3	g.chr8:37555481delG	ENST00000331569.4	+	2	1291	c.1062delG	c.(1060-1062)ccgfs	p.P354fs		NM_025069.1	NP_079345.1	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	354	Gly-rich.				adherens junction assembly (GO:0034333)|cellular response to estradiol stimulus (GO:0071392)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)		FGFR1/ZNF703(2)	breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			GCCTGCCGCCGGGCAAGCCCC	0.711																																						ENST00000331569.4																		FGFR1/ZNF703(2)	0				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7						c.(1060-1062)ccfs		zinc finger protein 703							6	7	7					8																	37555481		2041	4128	6169	SO:0001589	frameshift_variant	80139				adherens junction assembly|mammary gland epithelial cell differentiation|negative regulation of homotypic cell-cell adhesion|negative regulation of transcription, DNA-dependent|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of mammary gland epithelial cell proliferation|regulation of canonical Wnt receptor signaling pathway|regulation of cell cycle|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr8:37555481delG	AK024361	CCDS6094.1	8p12	2008-05-02				ENSG00000183779			25883	protein-coding gene	gene with protein product						15897872	Standard	NM_025069		Approved	FLJ14299, ZNF503L	uc003xjy.1	Q9H7S9		ENST00000331569.4:c.1062delG	8.37:g.37555481delG	ENSP00000332325:p.Pro354fs						p.P354fs	NM_025069.1	NP_079345.1	Q9H7S9	ZN703_HUMAN	BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)		2	1291	+			354			Gly-rich.		Q5XG76	Frame_Shift_Del	DEL	ENST00000331569.4	37	c.1062delG	CCDS6094.1																																																																																				0.711	ZNF703-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376683.2	NM_025069		2	4						2	4	---	---	---	---	-	37555481	G	-	37555481	7	5	262	1	0	1	0	1	0	0	0	0	18103	1103	39	0	1068	0	ZNF703	8	37555481	Frame_Shift_Del	DEL	G	TCGA-EL-A4K2-01A-11D-A257-08		37555481	108808541	7	5608											
UBR5	51366	broad.mit.edu	37	chr8	103271235	103271235	+	Frame_Shift_Del	DEL	A	A	-													gattcatcattgaaagaggtAaaactgatcagcatttgcac							TCGA-EL-A4K2-01A-11D-A257-08	TCGA-EL-A4K2-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba57094e-ee91-4235-9cfb-88659af9a99e	406c2a3b-2a90-403c-b247-e484b0b313e3	g.chr8:103271235delA	ENST00000520539.1	-	57	8685	c.8079delT	c.(8077-8079)tttfs	p.F2693fs	KB-431C1.5_ENST00000606361.1_RNA|UBR5_ENST00000220959.4_Frame_Shift_Del_p.F2692fs|UBR5_ENST00000518205.1_Frame_Shift_Del_p.F421fs|UBR5_ENST00000521922.1_Frame_Shift_Del_p.F2686fs	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2693	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGAAAGAGGTAAAACTGATCA	0.333																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(8077-8079)ttfs		ubiquitin protein ligase E3 component n-recognin 5							91	94	93					8																	103271235		2203	4300	6503	SO:0001589	frameshift_variant	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103271235delA	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	16806	protein-coding gene	gene with protein product		608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.8079delT	8.37:g.103271235delA	ENSP00000429084:p.Phe2693fs					UBR5_ENST00000518205.1_Frame_Shift_Del_p.F421fs|UBR5_ENST00000220959.4_Frame_Shift_Del_p.F2692fs|UBR5_ENST00000521922.1_Frame_Shift_Del_p.F2686fs	p.F2693fs	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		57	8685	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		2693			HECT.		B2RP24|J3KMW7|O94970|Q9NPL3	Frame_Shift_Del	DEL	ENST00000520539.1	37	c.8079delT	CCDS34933.1																																																																																				0.333	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		10	26						10	26	---	---	---	---	-	103271235	A	-	103271235	7	5	262	1	0	1	0	1	0	0	0	0	16902	359	13	0	332	0	UBR5	8	103271235	Frame_Shift_Del	DEL	A	TCGA-EL-A4K2-01A-11D-A257-08	65715754	103271235	43092787	8	5609											
USP5	8078	broad.mit.edu	37	chr12	6964920	6964920	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttcctgcttctttacagaAagaggaggaccctgctacag	9	12	1	2			TCGA-EL-A4K2-01A-11D-A257-08	TCGA-EL-A4K2-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba57094e-ee91-4235-9cfb-88659af9a99e	406c2a3b-2a90-403c-b247-e484b0b313e3	g.chr12:6964920A>G	ENST00000229268.8	+	3	291	c.239A>G	c.(238-240)aAa>aGa	p.K80R	USP5_ENST00000389231.5_Splice_Site_p.K80R	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	80					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						TCTTTACAGAAAGAGGAGGAC	0.577																																						ENST00000229268.8																			0				breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						c.e3-1		ubiquitin specific peptidase 5 (isopeptidase T)							63	68	66					12																	6964920		2203	4300	6503	SO:0001630	splice_region_variant	0				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr12:6964920A>G	U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"Ubiquitin-specific peptidases"	12628	protein-coding gene	gene with protein product		601447	"ubiquitin specific protease 5 (isopeptidase T)"			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.238-1A>G	12.37:g.6964920A>G						USP5_ENST00000389231.5_Splice_Site_p.K80_splice	p.K80_splice	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN			3	291	+			80					D3DUS7|D3DUS8|Q96J22	Splice_Site	SNP	ENST00000229268.8	37	c.237_splice	CCDS41743.1	.	.	.	.	.	.	.	.	.	.	A	14.27	2.484239	0.44147	.	.	ENSG00000111667	ENST00000229268;ENST00000389231;ENST00000542087	T;T	0.26223	1.75;1.77	5.67	3.28	0.37604	.	0.199060	0.52532	N	0.000078	T	0.38983	0.1061	M	0.61703	1.905	0.80722	D	1	B;D	0.55800	0.005;0.973	B;P	0.58928	0.012;0.848	T	0.05419	-1.0886	10	0.30078	T	0.28	-0.5668	10.0412	0.42160	0.8631:0.0:0.1369:0.0	.	80;80	P45974;P45974-2	UBP5_HUMAN;.	R	80	ENSP00000229268:K80R;ENSP00000373883:K80R	ENSP00000229268:K80R	K	+	2	0	USP5	6835181	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	5.959000	0.70339	0.418000	0.25898	0.533000	0.62120	AAA		0.577	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1		Missense_Mutation	37	48	0	0	0	1	0	37	48					G	6964920	A	G	6964920	5	3	262	1	0	0	0	0	0	0	1	0	17078	28	1	3	249	3	USP5	12	6964920	Splice_Site	SNP	A	TCGA-EL-A4K2-01A-11D-A257-08		6964920	126886975	9	5610											
UBC	7316	broad.mit.edu	37	chr12	125397369	125397369	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggctccacttcgagagtgaTggtcttaccagtcagggtct	12	11	3	2			TCGA-EL-A4K2-01A-11D-A257-08	TCGA-EL-A4K2-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba57094e-ee91-4235-9cfb-88659af9a99e	406c2a3b-2a90-403c-b247-e484b0b313e3	g.chr12:125397369T>C	ENST00000536769.1	-	1	2525	c.949A>G	c.(949-951)Atc>Gtc	p.I317V	UBC_ENST00000536661.1_5'Flank|UBC_ENST00000546120.1_Missense_Mutation_p.I241V|UBC_ENST00000339647.5_Missense_Mutation_p.I317V|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000538617.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	317	Ubiquitin-like 5. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|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)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|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)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|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)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TCGAGAGTGATGGTCTTACCA	0.522																																						ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(949-951)Atc>Gtc		ubiquitin C							90	76	80					12																	125397369		2202	4286	6488	SO:0001583	missense	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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 ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397369T>C		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"polyubiquitin-C"	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.949A>G	12.37:g.125397369T>C	ENSP00000441543:p.Ile317Val					UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Missense_Mutation_p.I241V|UBC_ENST00000339647.5_Missense_Mutation_p.I317V	p.I317V			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	2525	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		317			Ubiquitin-like 5.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000536769.1	37	c.949A>G	CCDS9260.1	.	.	.	.	.	.	.	.	.	.	T	10.72	1.431067	0.25726	.	.	ENSG00000150991	ENST00000536769;ENST00000535460;ENST00000541046;ENST00000339647;ENST00000546120	T;T;T	0.75050	-0.9;-0.9;-0.9	2.94	2.94	0.34122	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.46442	U	0.000291	T	0.74884	0.3775	M	0.72894	2.215	0.58432	D	0.999999	B;B;B	0.19583	0.016;0.037;0.016	B;B;B	0.36030	0.085;0.216;0.085	T	0.75051	-0.3454	10	0.59425	D	0.04	.	9.4283	0.38595	0.0:0.0:0.0:1.0	.	406;317;317	Q66K58;F5H7K6;P0CG48	.;.;UBC_HUMAN	V	317;317;241;317;241	ENSP00000441543:I317V;ENSP00000344818:I317V;ENSP00000438394:I241V	ENSP00000344818:I317V	I	-	1	0	UBC	123963322	1.000000	0.71417	1.000000	0.80357	0.145000	0.21501	6.551000	0.73909	1.382000	0.46385	0.449000	0.29647	ATC		0.522	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		40	116	0	0	0	1	0	40	116					C	125397369	T	C	125397369	3	2	262	1	0	0	0	0	1	0	0	0	16839	1464	51	3	1112	3	UBC	12	125397369	Missense_Mutation	SNP	T	TCGA-EL-A4K2-01A-11D-A257-08	118432449	125397369	8454526	10	5611											
C14orf4	64207	broad.mit.edu	37	chr14	77493648	77493650	+	In_Frame_Del	DEL	GCG	GCG	-													ggctgcgctgttccaccgcaGcggcggcggcggcggcggcg					rs371633333		TCGA-EL-A4K2-01A-11D-A257-08	TCGA-EL-A4K2-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba57094e-ee91-4235-9cfb-88659af9a99e	406c2a3b-2a90-403c-b247-e484b0b313e3	g.chr14:77493648_77493650delGCG	ENST00000238647.3	-	1	1384_1386	c.486_488delCGC	c.(484-489)gccgct>gct	p.162_163AA>A		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	162	Poly-Ala.				development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						TTCCACCgcagcggcggcggcgg	0.749																																						ENST00000238647.3																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						c.(484-489)gct>gc		interferon regulatory factor 2 binding protein-like																																				SO:0001651	inframe_deletion	64207					nucleus		g.chr14:77493648_77493650delGCG	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"enhanced at puberty 1"	611720	"chromosome 14 open reading frame 4"	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.486_488delCGC	14.37:g.77493657_77493659delGCG	ENSP00000238647:p.Ala164del						p.AA162del	NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN			1	1384_1386	-			162			Poly-Ala.		Q8NDQ2|Q96JG2|Q9H3I7	In_Frame_Del	DEL	ENST00000238647.3	37	c.486_488delCGC	CCDS9854.1																																																																																				0.749	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		5	8						5	8	---	---	---	---	-	77493650	GCG	-	77493648	7	5	262	1	0	1	0	1	0	0	0	0	1773	971	34	0	1906	0	C14orf4	14	77493648	In_Frame_Del	DEL	GCG	TCGA-EL-A4K2-01A-11D-A257-08		77493648	29855892	11	5612											
TBC1D2B	23102	broad.mit.edu	37	chr15	78305349	78305349	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctccagcgccttctgcaGcaaggtctggaagtggccag	12	12	3	0			TCGA-EL-A4K2-01A-11D-A257-08	TCGA-EL-A4K2-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba57094e-ee91-4235-9cfb-88659af9a99e	406c2a3b-2a90-403c-b247-e484b0b313e3	g.chr15:78305349G>A	ENST00000300584.3	-	9	2085	c.2086C>T	c.(2086-2088)Ctg>Ttg	p.L696L	TBC1D2B_ENST00000409931.3_Silent_p.L696L	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	696	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GCCTTCTGCAGCAAGGTCTGG	0.562																																						ENST00000409931.3																			0				breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						c.(2086-2088)Ctg>Ttg		TBC1 domain family, member 2B							119	89	99					15																	78305349		2196	4293	6489	SO:0001819	synonymous_variant	23102					intracellular	protein binding|Rab GTPase activator activity	g.chr15:78305349G>A	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.2086C>T	15.37:g.78305349G>A						TBC1D2B_ENST00000300584.3_Silent_p.L696L	p.L696L			Q9UPU7	TBD2B_HUMAN			9	2157	-			696			Rab-GAP TBC.		A7MD42|Q8N1F9|Q9NXM0	Silent	SNP	ENST00000300584.3	37	c.2086C>T	CCDS45314.1																																																																																				0.562	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079		3	20	0	0	0	1	0	3	20					A	78305349	G	A	78305349	2	1	262	1	0	0	0	0	0	0	0	1	15616	962	34	2		2	TBC1D2B	15	78305349	Silent	SNP	G	TCGA-EL-A4K2-01A-11D-A257-08		78305349	24226043	12	5613											
DNAH9	1770	broad.mit.edu	37	chr17	11827171	11827171	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcaacaatcagaactttcaCaacgtgtctttggggcaagg	9	9	4	1			TCGA-EL-A4K2-01A-11D-A257-08	TCGA-EL-A4K2-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba57094e-ee91-4235-9cfb-88659af9a99e	406c2a3b-2a90-403c-b247-e484b0b313e3	g.chr17:11827171C>A	ENST00000262442.4	+	62	11858	c.11790C>A	c.(11788-11790)caC>caA	p.H3930Q	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.H3930Q|DNAH9_ENST00000608377.1_Missense_Mutation_p.H242Q	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3930	AAA 6. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGAACTTTCACAACGTGTCTT	0.453																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(11788-11790)caC>caA		dynein, axonemal, heavy chain 9							154	126	135					17																	11827171		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11827171C>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.11790C>A	17.37:g.11827171C>A	ENSP00000262442:p.His3930Gln					DNAH9_ENST00000396001.2_Missense_Mutation_p.H242Q|DNAH9_ENST00000454412.2_Missense_Mutation_p.H3930Q	p.H3930Q	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	62	11858	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3930			AAA 6 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.11790C>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.583659	0.65992	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001;ENST00000361801	T;T;T	0.08370	3.1;3.1;3.1	4.98	3.94	0.45596	Dynein heavy chain (1);	0.045058	0.85682	D	0.000000	T	0.23410	0.0566	M	0.68317	2.08	0.54753	D	0.999981	P;D	0.69078	0.489;0.997	B;D	0.76575	0.385;0.988	T	0.00113	-1.2042	10	0.59425	D	0.04	.	10.2321	0.43260	0.0:0.8379:0.0:0.1621	.	283;3930	B7Z7H0;Q9NYC9	.;DYH9_HUMAN	Q	3930;3930;2512;242;283	ENSP00000262442:H3930Q;ENSP00000414874:H3930Q;ENSP00000379323:H242Q	ENSP00000262442:H3930Q	H	+	3	2	DNAH9	11767896	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.419000	0.34793	2.588000	0.87417	0.561000	0.74099	CAC		0.453	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		6	61	1	0	0.0215528	1	0.0215528	6	61					A	11827171	C	A	11827171	3	1	262	1	0	0	0	0	1	0	0	0	4608	477	17	4	12036	4	DNAH9	17	11827171	Missense_Mutation	SNP	C	TCGA-EL-A4K2-01A-11D-A257-08		11827171	69368039	13	5614											
BSN	8927	broad.mit.edu	37	chr3	49689975	49689975	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctacacctcgggcacctctCccacctctctgtcctcccta	5	21	2	0			TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr3:49689975C>T	ENST00000296452.4	+	5	3100	c.2986C>T	c.(2986-2988)Ccc>Tcc	p.P996S		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	996					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGGCACCTCTCCCACCTCTCT	0.647																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(2986-2988)Ccc>Tcc		bassoon presynaptic cytomatrix protein							40	36	37					3																	49689975		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49689975C>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.2986C>T	3.37:g.49689975C>T	ENSP00000296452:p.Pro996Ser						p.P996S	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	3100	+			996					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.2986C>T	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.039829	0.55003	.	.	ENSG00000164061	ENST00000296452	T	0.39787	1.06	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.67040	0.2851	M	0.77313	2.365	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.69957	-0.5004	10	0.54805	T	0.06	.	18.2681	0.90059	0.0:1.0:0.0:0.0	.	996	Q9UPA5	BSN_HUMAN	S	996	ENSP00000296452:P996S	ENSP00000296452:P996S	P	+	1	0	BSN	49664979	1.000000	0.71417	0.989000	0.46669	0.943000	0.58893	7.798000	0.85924	2.413000	0.81919	0.561000	0.74099	CCC		0.647	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		15	23	0	0	0	1	0	15	23					T	49689975	C	T	49689975	3	4	263	1	0	0	0	0	1	0	0	0	1530	855	30	2	3004	2	BSN	3	49689975	Missense_Mutation	SNP	C	TCGA-EL-A4K4-01A-11D-A257-08		49689975	148332455	1	5615											
COL6A6	131873	broad.mit.edu	37	chr3	130284243	130284243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaagcagctgttaacctccGacgggagggtgtgaccatct	12	10	1	1			TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr3:130284243G>A	ENST00000358511.6	+	3	1098	c.1067G>A	c.(1066-1068)cGa>cAa	p.R356Q	COL6A6_ENST00000453409.2_Missense_Mutation_p.R356Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	356	Nonhelical region.|VWFA 2. {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 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						GTTAACCTCCGACGGGAGGGT	0.567																																						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.(1066-1068)cGa>cAa		collagen, type VI, alpha 6							158	168	164					3																	130284243		2012	4183	6195	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130284243G>A	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.1067G>A	3.37:g.130284243G>A	ENSP00000351310:p.Arg356Gln					COL6A6_ENST00000453409.2_Missense_Mutation_p.R356Q	p.R356Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			3	1098	+			356			Nonhelical region.|VWFA 2.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.1067G>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921984	0.73213	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.80824	-1.42;-1.42	5.01	5.01	0.66863	von Willebrand factor, type A (3);	0.000000	0.53938	D	0.000045	D	0.87386	0.6164	M	0.71920	2.185	0.32172	N	0.581533	D	0.89917	1.0	D	0.68765	0.96	D	0.87618	0.2508	10	0.33141	T	0.24	.	14.0723	0.64868	0.0:0.0:0.8487:0.1513	.	356	A6NMZ7	CO6A6_HUMAN	Q	356	ENSP00000351310:R356Q;ENSP00000399236:R356Q	ENSP00000351310:R356Q	R	+	2	0	COL6A6	131766933	0.998000	0.40836	1.000000	0.80357	0.727000	0.41649	4.233000	0.58651	2.492000	0.84095	0.561000	0.74099	CGA		0.567	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		56	66	0	0	0	1	0	56	66					A	130284243	G	A	130284243	3	1	263	1	0	0	0	0	1	0	0	0	3703	1058	37	1	1077	1	COL6A6	3	130284243	Missense_Mutation	SNP	G	TCGA-EL-A4K4-01A-11D-A257-08	80594268	130284243	67738187	2	5616											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		14	39	0	0	0	1	0	14	39					T	140453136	A	T	140453136	3	4	263	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A4K4-01A-11D-A257-08		140453136	18685527	3	5617											
ADO	84890	broad.mit.edu	37	chr10	64565221	64565221	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgcatcagctgcatggaCaagctagacgcgggcggcgg	17	11	1	1			TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr10:64565221C>A	ENST00000373783.1	+	1	706	c.402C>A	c.(400-402)gaC>gaA	p.D134E	RP11-436D10.3_ENST00000425290.1_RNA	NM_032804.5	NP_116193.2	Q96SZ5	AEDO_HUMAN	2-aminoethanethiol (cysteamine) dioxygenase	134						mitochondrion (GO:0005739)	cysteamine dioxygenase activity (GO:0047800)|metal ion binding (GO:0046872)			lung(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					GCTGCATGGACAAGCTAGACG	0.716																																						ENST00000373783.1																			0				lung(2)	2						c.(400-402)gaC>gaA		2-aminoethanethiol (cysteamine) dioxygenase							6	5	5					10																	64565221		1983	3894	5877	SO:0001583	missense	84890						cysteamine dioxygenase activity|metal ion binding	g.chr10:64565221C>A	BC028589	CCDS7266.2	10q21.3	2007-08-28	2007-08-28	2007-08-28	ENSG00000181915	ENSG00000181915	1.13.11.19		23506	protein-coding gene	gene with protein product	"cysteamine dioxygenase"	611392	"chromosome 10 open reading frame 22"	C10orf22		17581819	Standard	NM_032804		Approved	FLJ14547	uc001jmg.3	Q96SZ5	OTTHUMG00000018306	ENST00000373783.1:c.402C>A	10.37:g.64565221C>A	ENSP00000362888:p.Asp134Glu					RP11-436D10.3_ENST00000425290.1_RNA	p.D134E	NM_032804.5	NP_116193.2	Q96SZ5	AEDO_HUMAN			1	706	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		134					B1AL29	Missense_Mutation	SNP	ENST00000373783.1	37	c.402C>A	CCDS7266.2	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759305	0.89932	.	.	ENSG00000181915	ENST00000373783	T	0.55413	0.52	5.07	5.07	0.68467	Cupin, RmlC-type (1);RmlC-like jelly roll fold (1);	0.109027	0.64402	D	0.000012	T	0.73265	0.3565	M	0.88979	2.995	0.53688	D	0.999971	D	0.56746	0.977	D	0.67382	0.951	T	0.76526	-0.2927	10	0.49607	T	0.09	-26.846	10.8793	0.46929	0.0:0.9115:0.0:0.0885	.	134	Q96SZ5	AEDO_HUMAN	E	134	ENSP00000362888:D134E	ENSP00000362888:D134E	D	+	3	2	ADO	64235227	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.158000	0.50723	2.356000	0.79943	0.650000	0.86243	GAC		0.716	ADO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048243.2	NM_032804		2	0	1	0	0.0784	1	0.0784	2	0					A	64565221	C	A	64565221	3	1	263	1	0	0	0	0	1	0	0	0	325	477	17	4	404	4	ADO	10	64565221	Missense_Mutation	SNP	C	TCGA-EL-A4K4-01A-11D-A257-08		64565221	70969526	4	5618											
TRIM6	117854	broad.mit.edu	37	chr11	5624780	5624780	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctggccaacatagtgaggCggctcagagaggtagtgttg	15	7	2	2	rs61758093		TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr11:5624780C>T	ENST00000278302.5	+	2	378	c.238C>T	c.(238-240)Cgg>Tgg	p.R80W	TRIM6_ENST00000507320.1_Intron|TRIM6_ENST00000506134.1_Intron|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000515022.1_Intron|TRIM6_ENST00000445329.1_Intron|TRIM6_ENST00000380097.3_Missense_Mutation_p.R108W|TRIM6_ENST00000380107.1_Missense_Mutation_p.R80W|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.R108W	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	80					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		CATAGTGAGGCGGCTCAGAGA	0.552																																						ENST00000380097.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22						c.(322-324)Cgg>Tgg		tripartite motif containing 6		C	TRP/ARG,TRP/ARG,,,TRP/ARG	6,4396	11.4+/-27.6	0,6,2195	87	87	87		322,322,,,238	1.6	0.5	11	dbSNP_129	87	0,8594		0,0,4297	no	missense,missense,intron,intron,missense	TRIM6,TRIM6-TRIM34	NM_001003818.2,NM_001003819.3,NM_001198644.1,NM_001198645.1,NM_058166.4	101,101,,,101	0,6,6492	TT,TC,CC		0.0,0.1363,0.0462	probably-damaging,probably-damaging,,,probably-damaging	108/517,108/843,,,80/489	5624780	6,12990	2201	4297	6498	SO:0001583	missense	117854							g.chr11:5624780C>T	AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16277	protein-coding gene	gene with protein product		607564	"tripartite motif-containing 6"			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.238C>T	11.37:g.5624780C>T	ENSP00000278302:p.Arg80Trp					TRIM6_ENST00000380107.1_Missense_Mutation_p.R80W|TRIM6_ENST00000278302.5_Missense_Mutation_p.R80W|TRIM6_ENST00000515022.1_Intron|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.R108W|TRIM6_ENST00000506134.1_Intron|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000507320.1_Intron|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000445329.1_Intron	p.R108W	NM_001003818.2|NM_001198644.1|NM_001198645.1	NP_001003818.1|NP_001185573.1|NP_001185574.1				Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)	2	564	+		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)						A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Missense_Mutation	SNP	ENST00000278302.5	37	c.322C>T	CCDS31390.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.977229	0.34848	0.001363	0.0	ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000258659;ENSG00000258588	ENST00000278302;ENST00000380107;ENST00000380097;ENST00000337072;ENST00000354852	D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92	4.04	1.6	0.23607	Zinc finger, RING/FYVE/PHD-type (1);	.	.	.	.	D	0.92453	0.7604	M	0.90082	3.085	0.21064	N	0.999794	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.987;0.982;0.999;0.998	T	0.83115	-0.0121	9	0.59425	D	0.04	.	9.5348	0.39216	0.6522:0.3478:0.0:0.0	rs61758093	80;108;108;80	E9PFM0;B2RNG4;Q9C030-2;Q9C030	.;.;.;TRIM6_HUMAN	W	80;80;108;108;108	ENSP00000278302:R80W;ENSP00000369450:R80W;ENSP00000369440:R108W;ENSP00000346916:R108W	ENSP00000278302:R80W	R	+	1	2	TRIM34;TRIM6;TRIM6-TRIM34	5581356	0.001000	0.12720	0.536000	0.28039	0.451000	0.32288	0.636000	0.24644	0.325000	0.23359	-0.266000	0.10368	CGG		0.552	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2	NM_001003818		10	43	0	0	0	1	0	10	43					T	5624780	C	T	5624780	3	4	263	1	0	0	0	0	1	0	0	0	16530	759	27	1	328	1	TRIM6	11	5624780	Missense_Mutation	SNP	C	TCGA-EL-A4K4-01A-11D-A257-08		5624780	129381736	5	5619											
NCOR2	9612	broad.mit.edu	37	chr12	124827559	124827559	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagggcaatcacctgcgtccAgagggatgccgcggggtatg	16	11	1	1			TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr12:124827559A>T	ENST00000405201.1	-	33	4928	c.4928T>A	c.(4927-4929)cTg>cAg	p.L1643Q	NCOR2_ENST00000429285.2_Missense_Mutation_p.L1633Q|NCOR2_ENST00000397355.1_Missense_Mutation_p.L1634Q|NCOR2_ENST00000404621.1_Missense_Mutation_p.L1633Q|NCOR2_ENST00000356219.3_Missense_Mutation_p.L1650Q|NCOR2_ENST00000404121.2_Missense_Mutation_p.L1204Q			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1651					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		ACCTGCGTCCAGAGGGATGCC	0.637																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(4948-4950)cTg>cAg		nuclear receptor corepressor 2							27	31	30					12																	124827559		2038	4180	6218	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124827559A>T	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.4928T>A	12.37:g.124827559A>T	ENSP00000384018:p.Leu1643Gln					NCOR2_ENST00000429285.2_Missense_Mutation_p.L1633Q|NCOR2_ENST00000405201.1_Missense_Mutation_p.L1643Q|NCOR2_ENST00000404621.1_Missense_Mutation_p.L1633Q|NCOR2_ENST00000404121.2_Missense_Mutation_p.L1204Q|NCOR2_ENST00000397355.1_Missense_Mutation_p.L1634Q	p.L1650Q	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	34	5104	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		1651					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.4949T>A	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	A	16.83	3.231792	0.58777	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285	T;T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11;0.11	5.14	5.14	0.70334	.	0.258733	0.33364	N	0.004985	T	0.75554	0.3865	M	0.74258	2.255	0.45330	D	0.998327	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.79279	-0.1869	10	0.87932	D	0	-24.2164	14.942	0.71000	1.0:0.0:0.0:0.0	.	1633;1634;1643	C9J0Q5;C9J239;C9JFD3	.;.;.	Q	1643;1633;1650;1634;1642;1204;1633	ENSP00000384018:L1643Q;ENSP00000384202:L1633Q;ENSP00000348551:L1650Q;ENSP00000380513:L1634Q;ENSP00000385618:L1204Q;ENSP00000400281:L1633Q	ENSP00000348551:L1650Q	L	-	2	0	NCOR2	123393512	1.000000	0.71417	0.949000	0.38748	0.832000	0.47134	8.415000	0.90241	1.920000	0.55613	0.459000	0.35465	CTG		0.637	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		3	22	0	0	0	1	0	3	22					T	124827559	A	T	124827559	3	4	263	1	0	0	0	0	1	0	0	0	10236	188	7	5	2676	5	NCOR2	12	124827559	Missense_Mutation	SNP	A	TCGA-EL-A4K4-01A-11D-A257-08		124827559	9024336	6	5620											
LACTB	114294	broad.mit.edu	37	chr15	63414116	63414116	+	Frame_Shift_Del	DEL	G	G	-													ctgcccgggctgccgcccccGggggcttggcctcaagctgc					rs34925488	byFrequency	TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr15:63414116delG	ENST00000261893.4	+	1	118	c.46delG	c.(46-48)gggfs	p.G17fs	LACTB_ENST00000413507.2_Frame_Shift_Del_p.G17fs	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	17						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						TGCCGCCCCCGGGGGCTTGGC	0.751																																					Melanoma(85;443 1381 6215 27308 35583)	ENST00000413507.2																			0				NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						c.(46-48)ggfs		lactamase, beta							4	5	5					15																	63414116		1367	2959	4326	SO:0001589	frameshift_variant	114294					mitochondrion	hydrolase activity	g.chr15:63414116delG	AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"Mitochondrial ribosomal proteins / large subunits"	16468	protein-coding gene	gene with protein product		608440	"mitochondrial ribosomal protein L56"	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.46delG	15.37:g.63414116delG	ENSP00000261893:p.Gly17fs					LACTB_ENST00000261893.4_Frame_Shift_Del_p.G17fs	p.G17fs	NM_171846.2	NP_741982.1	P83111	LACTB_HUMAN			1	85	+			17					P83096	Frame_Shift_Del	DEL	ENST00000261893.4	37	c.46delG	CCDS10182.1																																																																																				0.751	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857		2	4						2	4	---	---	---	---	-	63414116	G	-	63414116	7	5	263	1	0	1	0	1	0	0	0	0	8597	1116	39	0	48	0	LACTB	15	63414116	Frame_Shift_Del	DEL	G	TCGA-EL-A4K4-01A-11D-A257-08		63414116	39117276	7	5621											
SEPX1	6123	broad.mit.edu	37	chr16	1993132	1993132	+	IGR	DEL	C	C	-													agtgattctggaaaacctcgCccccgaagaagctgcagaac							TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr16:1993132delC	ENST00000268661.7	-	0	2182				MSRB1_ENST00000399753.2_Frame_Shift_Del_p.G9fs|MSRB1_ENST00000489198.1_5'Flank|MSRB1_ENST00000564908.1_Frame_Shift_Del_p.G9fs|MSRB1_ENST00000361871.3_Frame_Shift_Del_p.G9fs	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|ribosome (GO:0005840)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						GAAAACCTCGCCCCCGAAGAA	0.697																																						ENST00000361871.3																			0											c.(25-27)gcfs		methionine sulfoxide reductase B1	L-Methionine(DB00134)						13	17	16					16																	1993132		1934	4092	6026	SO:0001628	intergenic_variant	51734				protein repair	cytoplasm|nucleus	peptide-methionine-(S)-S-oxide reductase activity|zinc ion binding	g.chr16:1993132delC	U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986		"L ribosomal proteins"	10351	protein-coding gene	gene with protein product						8921388	Standard	NM_005061		Approved		uc002cnh.3	Q92901	OTTHUMG00000128685		16.37:g.1993132delC						MSRB1_ENST00000399753.2_Frame_Shift_Del_p.G9fs|MSRB1_ENST00000564908.1_Frame_Shift_Del_p.G9fs	p.G9fs	NM_016332.2	NP_057416.1	Q9NZV6	MSRB1_HUMAN			1	195	-			9						Frame_Shift_Del	DEL	ENST00000268661.7	37	c.26delG	CCDS10450.1																																																																																				0.697	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250582.2	NM_005061		2	4						2	4	---	---	---	---	-	1993132	C	-	1993132	6	5	263	0	1	1	0	1	0	0	0	0	14073	739	26	0		0	SEPX1	16	1993132	IGR	DEL	C	TCGA-EL-A4K4-01A-11D-A257-08		1993132	88361621	8	5622											
OR10H2	26538	broad.mit.edu	37	chr19	15839218	15839218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccgtcatgggctacgaccGctacgtggccatctgccacc	10	17	2	0	rs549916970	byFrequency	TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr19:15839218G>A	ENST00000305899.3	+	1	385	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GGCTACGACCGCTACGTGGCC	0.647																																						ENST00000305899.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27						c.(364-366)cGc>cAc		olfactory receptor, family 10, subfamily H, member 2							59	51	54					19																	15839218		2203	4298	6501	SO:0001583	missense	26538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15839218G>A	AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"GPCR / Class A : Olfactory receptors"	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.365G>A	19.37:g.15839218G>A	ENSP00000306095:p.Arg122His						p.R122H	NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN			1	385	+	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)		122					Q6IFQ1|Q96R58	Missense_Mutation	SNP	ENST00000305899.3	37	c.365G>A	CCDS12333.1	.	.	.	.	.	.	.	.	.	.	.	17.55	3.418735	0.62622	.	.	ENSG00000171942	ENST00000305899	T	0.77489	-1.1	3.4	3.4	0.38934	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000115	T	0.79257	0.4415	M	0.89785	3.06	0.39779	D	0.972277	P	0.35684	0.515	B	0.30572	0.117	D	0.83923	0.0302	10	0.87932	D	0	.	12.3469	0.55126	0.0:0.0:1.0:0.0	.	122	O60403	O10H2_HUMAN	H	122	ENSP00000306095:R122H	ENSP00000306095:R122H	R	+	2	0	OR10H2	15700218	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.970000	0.76099	1.446000	0.47643	0.537000	0.68136	CGC		0.647	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			24	40	0	0	0	1	0	24	40					A	15839218	G	A	15839218	3	1	263	1	0	0	0	0	1	0	0	0	10906	1087	38	1	367	1	OR10H2	19	15839218	Missense_Mutation	SNP	G	TCGA-EL-A4K4-01A-11D-A257-08		15839218	43289765	9	5623											
ITCH	83737	broad.mit.edu	37	chr20	33057876	33057876	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatggacctcagatagcctAtgttcgggacttcaaagcaa	9	10	2	1			TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr20:33057876A>G	ENST00000262650.6	+	16	1707	c.1571A>G	c.(1570-1572)tAt>tGt	p.Y524C	ITCH_ENST00000535650.1_Missense_Mutation_p.Y373C|ITCH_ENST00000374864.4_Missense_Mutation_p.Y483C|ITCH_ENST00000483727.1_3'UTR			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	524					apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						CAGATAGCCTATGTTCGGGAC	0.408																																						ENST00000374864.4																			0				NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1447-1449)tAt>tGt		itchy E3 ubiquitin protein ligase							259	245	250					20																	33057876		2203	4300	6503	SO:0001583	missense	83737				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	g.chr20:33057876A>G	AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"itchy (mouse homolog) E3 ubiquitin protein ligase", "itchy E3 ubiquitin protein ligase homolog (mouse)"			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.1571A>G	20.37:g.33057876A>G	ENSP00000262650:p.Tyr524Cys					ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000535650.1_Missense_Mutation_p.Y373C|ITCH_ENST00000262650.6_Missense_Mutation_p.Y524C	p.Y483C	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN			15	1661	+			524			WW 4.		A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Missense_Mutation	SNP	ENST00000262650.6	37	c.1448A>G	CCDS58768.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.725526	0.89298	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	T;T;T	0.37411	1.21;1.2;1.58	6.07	6.07	0.98685	.	0.114890	0.64402	D	0.000009	T	0.64000	0.2559	M	0.82193	2.58	0.80722	D	1	D;P;D	0.69078	0.997;0.936;0.997	D;B;P	0.70227	0.968;0.273;0.884	T	0.69139	-0.5224	10	0.87932	D	0	.	16.3021	0.82825	1.0:0.0:0.0:0.0	.	435;524;483	B4DN85;Q96J02;Q5QP37	.;ITCH_HUMAN;.	C	483;373;524	ENSP00000363998:Y483C;ENSP00000445608:Y373C;ENSP00000262650:Y524C	ENSP00000262650:Y524C	Y	+	2	0	ITCH	32521537	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.958000	0.93099	2.326000	0.78906	0.533000	0.62120	TAT		0.408	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2			49	103	0	0	0	1	0	49	103					G	33057876	A	G	33057876	3	3	263	1	0	0	0	0	1	0	0	0	7868	449	16	3	1498	3	ITCH	20	33057876	Missense_Mutation	SNP	A	TCGA-EL-A4K4-01A-11D-A257-08		33057876	29967644	10	5624											
EMILIN3	90187	broad.mit.edu	37	chr20	39991087	39991087	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccagacacgctcaggccCtgcagctggctgcccagctg	12	17	1	1			TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr20:39991087C>T	ENST00000332312.3	-	4	1314	c.1122G>A	c.(1120-1122)caG>caA	p.Q374Q		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	374						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)				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)				CGCTCAGGCCCTGCAGCTGGC	0.672																																						ENST00000332312.3																			0				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.(1120-1122)caG>caA		elastin microfibril interfacer 3																																				SO:0001819	synonymous_variant	90187					proteinaceous extracellular matrix		g.chr20:39991087C>T	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.1122G>A	20.37:g.39991087C>T							p.Q374Q	NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN			4	1314	-		Myeloproliferative disorder(115;0.00425)	374					Q495S5|Q495S6|Q495S7|Q76KT4	Silent	SNP	ENST00000332312.3	37	c.1122G>A	CCDS13316.1																																																																																				0.672	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106876.2	XM_029741		3	21	0	0	0	1	0	3	21					T	39991087	C	T	39991087	2	4	263	1	0	0	0	0	0	0	0	1	5095	680	24	2		2	EMILIN3	20	39991087	Silent	SNP	C	TCGA-EL-A4K4-01A-11D-A257-08	6933211	39991087	23034433	11	5625											
KIAA0754	643314	broad.mit.edu	37	chr1	39878974	39878974	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagtgcccaccccagaggagCccacctccccagctgctgca	9	20	0	1			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr1:39878974C>G	ENST00000530275.1	+	1	2824	c.2629C>G	c.(2629-2631)Ccc>Gcc	p.P877A	MACF1_ENST00000372915.3_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000317713.7_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	877	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCCAGAGGAGCCCACCTCCCC	0.687																																						ENST00000530275.1																			0				central_nervous_system(1)|large_intestine(6)|skin(1)	8						c.(2629-2631)Ccc>Gcc		KIAA0754							8	10	9					1																	39878974		1843	4036	5879	SO:0001583	missense	643314							g.chr1:39878974C>G			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.2629C>G	1.37:g.39878974C>G	ENSP00000431179:p.Pro877Ala					MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000539005.1_Intron	p.P877A	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	2824	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	877			Ala-rich.		E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37	c.2629C>G		.	.	.	.	.	.	.	.	.	.	C	9.146	1.015170	0.19355	.	.	ENSG00000255103	ENST00000530275	T	0.24723	1.84	4.2	-1.59	0.08453	.	.	.	.	.	T	0.15003	0.0362	L	0.29908	0.895	0.09310	N	1	B	0.28291	0.206	B	0.31101	0.124	T	0.31052	-0.9957	9	0.51188	T	0.08	.	1.7766	0.03023	0.1403:0.4618:0.1371:0.2608	.	877	O94854	K0754_HUMAN	A	877	ENSP00000431179:P877A	ENSP00000431179:P877A	P	+	1	0	RP4-562N20.1	39651561	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.318000	0.08050	-0.132000	0.11557	0.462000	0.41574	CCC		0.687	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		6	15	0	0	0	1	0	6	15					G	39878974	C	G	39878974	3	3	264	1	0	0	0	0	1	0	0	0	8192	739	26	4	3039	4	KIAA0754	1	39878974	Missense_Mutation	SNP	C	TCGA-EL-A4K6-01A-12D-A257-08		39878974	209371647	1	5626											
RAP1A	5906	broad.mit.edu	37	chr1	112240072	112240072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccccacagcaagttgaaGtcgattgccaacagtgtatg	10	11	0	1			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr1:112240072G>A	ENST00000369709.3	+	4	315	c.136G>A	c.(136-138)Gtc>Atc	p.V46I	RAP1A_ENST00000436150.2_Missense_Mutation_p.V46I|RAP1A_ENST00000356415.1_Missense_Mutation_p.V46I|RAP1A_ENST00000494982.1_3'UTR|RAP1A_ENST00000545460.1_Missense_Mutation_p.V46I	NM_002884.2	NP_002875.1	P62834	RAP1A_HUMAN	RAP1A, member of RAS oncogene family	46					activation of MAPKK activity (GO:0000186)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of vasculogenesis (GO:2001214)|protein transport (GO:0015031)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|guanyl-nucleotide exchange factor complex (GO:0032045)|late endosome (GO:0005770)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)		GCAAGTTGAAGTCGATTGCCA	0.358																																						ENST00000369709.3																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(136-138)Gtc>Atc		RAP1A, member of RAS oncogene family							151	156	154					1																	112240072		2203	4300	6503	SO:0001583	missense	5906				activation of MAPKK activity|blood coagulation|energy reserve metabolic process|nerve growth factor receptor signaling pathway|regulation of insulin secretion	cytosol|plasma membrane	GTP binding|GTPase activity	g.chr1:112240072G>A	BC014086	CCDS840.1	1p13.3	2014-05-09			ENSG00000116473	ENSG00000116473			9855	protein-coding gene	gene with protein product		179520				3143720	Standard	XM_006710803		Approved	KREV-1, SMGP21	uc001ebl.3	P62834	OTTHUMG00000011959	ENST00000369709.3:c.136G>A	1.37:g.112240072G>A	ENSP00000358723:p.Val46Ile					RAP1A_ENST00000436150.2_Missense_Mutation_p.V46I|RAP1A_ENST00000356415.1_Missense_Mutation_p.V46I|RAP1A_ENST00000545460.1_Missense_Mutation_p.V46I|RAP1A_ENST00000494982.1_3'UTR	p.V46I	NM_002884.2	NP_002875.1	P62834	RAP1A_HUMAN		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)	4	315	+		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)	46					P10113	Missense_Mutation	SNP	ENST00000369709.3	37	c.136G>A	CCDS840.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.834554	0.50951	.	.	ENSG00000116473	ENST00000356415;ENST00000433097;ENST00000369709;ENST00000436150;ENST00000545460	T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47	5.33	5.33	0.75918	Small GTP-binding protein domain (1);	0.060932	0.64402	D	0.000004	T	0.38852	0.1056	N	0.20881	0.62	0.80722	D	1	B	0.02656	0.0	B	0.11329	0.006	T	0.47522	-0.9111	10	0.02654	T	1	.	18.999	0.92826	0.0:0.0:1.0:0.0	.	46	P62834	RAP1A_HUMAN	I	46	ENSP00000348786:V46I;ENSP00000396741:V46I;ENSP00000358723:V46I;ENSP00000394318:V46I;ENSP00000443009:V46I	ENSP00000348786:V46I	V	+	1	0	RAP1A	112041595	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.476000	0.97823	2.652000	0.90054	0.650000	0.86243	GTC		0.358	RAP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033071.1	NM_002884		30	32	0	0	0	1	0	30	32					A	112240072	G	A	112240072	3	1	264	1	0	0	0	0	1	0	0	0	13035	1029	36	2	146	2	RAP1A	1	112240072	Missense_Mutation	SNP	G	TCGA-EL-A4K6-01A-12D-A257-08	72361098	112240072	137010549	2	5627											
NRAS	4893	broad.mit.edu	37	chr1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catggcactgtactcttcttGtccagctgtatccagtatgt	8	11	2	0	rs121913254		TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		610	Substitution - Missense(609)|Complex(1)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)	skin(372)|haematopoietic_and_lymphoid_tissue(73)|thyroid(55)|NS(29)|large_intestine(28)|soft_tissue(16)|lung(12)|autonomic_ganglia(6)|liver(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|cervix(2)|endometrium(2)|pancreas(2)|meninges(1)|kidney(1)|biliary_tract(1)|stomach(1)|ovary(1)|bone(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)Caa>Aaa		neuroblastoma RAS viral (v-ras) oncogene homolog							180	156	164					1																	115256530		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256530G>T	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.181C>A	1.37:g.115256530G>T	ENSP00000358548:p.Gln61Lys	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61K	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	434	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.181C>A	CCDS877.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255564	0.95336	.	.	ENSG00000213281	ENST00000369535	D	0.83506	-1.73	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.91845	0.7419	H	0.95850	3.73	0.80722	D	1	P	0.51791	0.948	P	0.54759	0.76	D	0.93711	0.7024	10	0.62326	D	0.03	.	18.6626	0.91477	0.0:0.0:1.0:0.0	.	61	P01111	RASN_HUMAN	K	61	ENSP00000358548:Q61K	ENSP00000358548:Q61K	Q	-	1	0	NRAS	115058053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.520000	0.98027	2.624000	0.88883	0.655000	0.94253	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		84	106	1	0	2.67039e-37	1	3.24777e-37	84	106					T	115256530	G	T	115256530	3	4	264	1	0	0	0	0	1	0	0	0	10640	1386	48	4	400	4	NRAS	1	115256530	Missense_Mutation	SNP	G	TCGA-EL-A4K6-01A-12D-A257-08	3016458	115256530	133994091	3	5628											
FCRL2	79368	broad.mit.edu	37	chr1	157739926	157739926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggagctggcagtcagcacagGacgttgaaagagctctagag	15	8	2	3			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr1:157739926G>A	ENST00000361516.3	-	4	373	c.325C>T	c.(325-327)Cct>Tct	p.P109S	FCRL2_ENST00000469986.1_5'Flank|FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Missense_Mutation_p.P109S	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	109	Ig-like C2-type 2.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GTCAGCACAGGACGTTGAAAG	0.532																																						ENST00000361516.3																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51						c.(325-327)Cct>Tct		Fc receptor-like 2							43	43	43					1																	157739926		2203	4300	6503	SO:0001583	missense	79368				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	g.chr1:157739926G>A	AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14875	protein-coding gene	gene with protein product		606509	"SH2 domain-containing phosphatase anchor protein 1"	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.325C>T	1.37:g.157739926G>A	ENSP00000355157:p.Pro109Ser					FCRL2_ENST00000392274.3_Missense_Mutation_p.P109S|FCRL2_ENST00000368181.4_Intron	p.P109S	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		4	373	-	all_hematologic(112;0.0378)		109			Ig-like C2-type 2.		A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Missense_Mutation	SNP	ENST00000361516.3	37	c.325C>T	CCDS1168.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.906855	0.52333	.	.	ENSG00000132704	ENST00000361516;ENST00000392274	T;T	0.26957	1.7;1.7	4.09	3.16	0.36331	Immunoglobulin-like (1);	0.000000	0.34828	U	0.003650	T	0.43612	0.1255	M	0.92367	3.3	0.09310	N	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.98;0.997;0.996	T	0.36768	-0.9734	10	0.56958	D	0.05	.	9.2901	0.37782	0.0:0.0:0.7855:0.2145	.	109;109;109	B4E0W2;B4DVJ9;Q96LA5	.;.;FCRL2_HUMAN	S	109	ENSP00000355157:P109S;ENSP00000376100:P109S	ENSP00000355157:P109S	P	-	1	0	FCRL2	156006550	0.844000	0.29557	0.005000	0.12908	0.196000	0.23810	2.768000	0.47645	1.047000	0.40274	0.591000	0.81541	CCT		0.532	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2	NM_030764		25	23	0	0	0	1	0	25	23					A	157739926	G	A	157739926	3	1	264	1	0	0	0	0	1	0	0	0	5795	1174	41	2	1237	2	FCRL2	1	157739926	Missense_Mutation	SNP	G	TCGA-EL-A4K6-01A-12D-A257-08	42483396	157739926	91510695	4	5629											
USH2A	7399	broad.mit.edu	37	chr1	215914751	215914751	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttgatgatgattccatttgGtttttcaggtggcatccact	10	7	1	3	rs41303285	byFrequency	TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr1:215914751G>T	ENST00000307340.3	-	60	12063	c.11677C>A	c.(11677-11679)Cca>Aca	p.P3893T	USH2A_ENST00000366943.2_Missense_Mutation_p.P3893T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3893	Fibronectin type-III 24. {ECO:0000255|PROSITE-ProRule:PRU00316}.		P -> T (in dbSNP:rs41303285). {ECO:0000269|PubMed:18273898}.		hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTCCATTTGGTTTTTCAGGT	0.388										HNSCC(13;0.011)			G|||	31	0.0061901	0	0.0058	5008	,	,		15254	0		0.0189	False		,,,				2504	0.0082					ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(11677-11679)Cca>Aca		Usher syndrome 2A (autosomal recessive, mild)		G	THR/PRO	22,4384	29.0+/-57.7	0,22,2181	156	160	159	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	11677	4.4	0.9	1	dbSNP_127	159	193,8407	85.6+/-148.0	2,189,4109	yes	missense	USH2A	NM_206933.2	38	2,211,6290	TT,TG,GG		2.2442,0.4993,1.6531	probably-damaging	3893/5203	215914751	215,12791	2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215914751G>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11677C>A	1.37:g.215914751G>T	ENSP00000305941:p.Pro3893Thr	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.P3893T	p.P3893T			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	60	12063	-			3893		P -> T (in dbSNP:rs41303285).	Fibronectin type-III 24.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.11677C>A	CCDS31025.1	17	0.007783882783882784	0	0.0	4	0.011049723756906077	0	0.0	13	0.017150395778364115	G	18.62	3.662850	0.67700	0.004993	0.022442	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.55588	0.51;0.51	5.38	4.44	0.53790	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.44688	D	0.000425	T	0.54663	0.1872	M	0.66560	2.04	0.53005	D	0.999964	D	0.89917	1.0	D	0.72075	0.976	T	0.66268	-0.5966	10	0.44086	T	0.13	.	15.9672	0.79984	0.0:0.135:0.865:0.0	rs41303285	3893	O75445	USH2A_HUMAN	T	3893	ENSP00000305941:P3893T;ENSP00000355910:P3893T	ENSP00000305941:P3893T	P	-	1	0	USH2A	213981374	1.000000	0.71417	0.878000	0.34440	0.972000	0.66771	5.655000	0.67981	1.447000	0.47661	0.655000	0.94253	CCA		0.388	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		5	86	1	0	1	1	1	5	86					T	215914751	G	T	215914751	3	4	264	1	0	0	0	0	1	0	0	0	17033	1261	44	4	3983	4	USH2A	1	215914751	Missense_Mutation	SNP	G	TCGA-EL-A4K6-01A-12D-A257-08	58174825	215914751	33335870	5	5630											
FBXO11	80204	broad.mit.edu	37	chr2	48066036	48066036	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaagttcactgaagcgtttAcatacacaagctgctctaca	7	11	2	1			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr2:48066036A>G	ENST00000403359.3	-	4	621	c.549T>C	c.(547-549)tgT>tgC	p.C183C	FBXO11_ENST00000378314.3_Silent_p.C65C|FBXO11_ENST00000402508.1_Silent_p.C99C|FBXO11_ENST00000316377.4_Silent_p.C99C|FBXO11_ENST00000480038.1_5'UTR	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	183	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGAAGCGTTTACATACACAAG	0.368			"Mis, F, D"		DLBCL																																	ENST00000403359.3				Rec	yes		2	2p16.3	80204	"Mis, F, D"	F-box protein 11			L			DLBCL		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(547-549)tgT>tgC		F-box protein 11							114	105	108					2																	48066036		2203	4300	6503	SO:0001819	synonymous_variant	80204				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:48066036A>G	AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"Ubiquitin protein ligase E3 component n-recognins", "F-boxes /  "other""	13590	protein-coding gene	gene with protein product	"ubiquitin protein ligase E3 component n-recognin 6"	607871	"F-box only protein 11"			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.549T>C	2.37:g.48066036A>G						FBXO11_ENST00000378314.3_Silent_p.C65C|FBXO11_ENST00000316377.4_Silent_p.C99C|FBXO11_ENST00000480038.1_5'UTR|FBXO11_ENST00000402508.1_Silent_p.C99C	p.C183C	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	621	-		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	183			F-box.		A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Silent	SNP	ENST00000403359.3	37	c.549T>C	CCDS54357.1																																																																																				0.368	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133		28	27	0	0	0	1	0	28	27					G	48066036	A	G	48066036	2	3	264	1	0	0	0	0	0	0	0	1	5727	389	14	3		3	FBXO11	2	48066036	Silent	SNP	A	TCGA-EL-A4K6-01A-12D-A257-08		48066036	195133337	6	5631											
ZNF2	7549	broad.mit.edu	37	chr2	95843249	95843249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcagtgacattcgaagacGttgccgtggttttcacagat	10	8	2	3			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr2:95843249G>A	ENST00000340539.5	+	3	517	c.55G>A	c.(55-57)Gtt>Att	p.V19I	ZNF2_ENST00000398107.2_De_novo_Start_OutOfFrame|ZNF2_ENST00000453539.2_Missense_Mutation_p.V19I|ZNF2_ENST00000295210.6_Missense_Mutation_p.V19I|ZNF2_ENST00000425369.1_De_novo_Start_OutOfFrame	NM_021088.2	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	19	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		ATTCGAAGACGTTGCCGTGGT	0.443																																						ENST00000398107.2																			0				endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12								zinc finger protein 2							177	172	173					2																	95843249		1982	4183	6165	SO:0001583	missense	7549				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:95843249G>A	X60152	CCDS42712.1, CCDS42713.1, CCDS62957.1	2q11.1	2013-09-24	2005-02-07		ENSG00000163067	ENSG00000275111		"Zinc fingers, C2H2-type", "-"	12991	protein-coding gene	gene with protein product		194500	"zinc finger protein 2 (A1-5)"			8183940, 1945843	Standard	NM_021088		Approved	A1-5, ZNF661, Zfp661	uc002suf.3	Q9BSG1	OTTHUMG00000155150	ENST00000340539.5:c.55G>A	2.37:g.95843249G>A	ENSP00000345392:p.Val19Ile					ZNF2_ENST00000425369.1_De_novo_Start_OutOfFrame|ZNF2_ENST00000453539.2_Missense_Mutation_p.V19I|ZNF2_ENST00000340539.5_Missense_Mutation_p.V19I|ZNF2_ENST00000295210.6_Missense_Mutation_p.V19I		NM_001017396.1	NP_001017396.1	Q9BSG1	ZNF2_HUMAN		READ - Rectum adenocarcinoma(193;0.0222)	0	451	+		Ovarian(717;0.00768)						A8MWV7|B4DIR4|Q4ZFY6|Q96G44|Q9UMC5	Translation_Start_Site	SNP	ENST00000340539.5	37		CCDS42712.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.926679	0.52759	.	.	ENSG00000163067	ENST00000340539;ENST00000295210;ENST00000453539	T;T;T	0.08720	3.06;3.06;3.06	5.07	5.07	0.68467	Krueppel-associated box (4);	0.000000	0.42964	D	0.000636	T	0.32346	0.0826	M	0.83692	2.655	0.32804	D	0.500571	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.46034	-0.9220	10	0.87932	D	0	-19.2748	15.9862	0.80155	0.0:0.0:1.0:0.0	.	19;19	B4DIR4;Q9BSG1	.;ZNF2_HUMAN	I	19	ENSP00000345392:V19I;ENSP00000295210:V19I;ENSP00000411051:V19I	ENSP00000295210:V19I	V	+	1	0	ZNF2	95206976	1.000000	0.71417	0.850000	0.33497	0.081000	0.17604	4.402000	0.59722	2.623000	0.88846	0.609000	0.83330	GTT		0.443	ZNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338595.2	NM_021088		46	130	0	0	0	1	0	46	130					A	95843249	G	A	95843249	3	1	264	1	0	0	0	0	1	0	0	0	17757	1145	40	1	61	1	ZNF2	2	95843249	Missense_Mutation	SNP	G	TCGA-EL-A4K6-01A-12D-A257-08	47777213	95843249	147356124	7	5632											
TTN	7273	broad.mit.edu	37	chr2	179476842	179476842	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactttaggtcaacatgtcGttttgtcacatcaaccactg	6	12	3	0			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr2:179476842G>A	ENST00000591111.1	-	217	45597	c.45373C>T	c.(45373-45375)Cga>Tga	p.R15125*	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.R16766*|TTN_ENST00000342992.6_Nonsense_Mutation_p.R14198*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R7893*|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R7826*|TTN_ENST00000460472.2_Nonsense_Mutation_p.R7701*			Q8WZ42	TITIN_HUMAN	titin	15125	Fibronectin type-III 10. {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)			TCAACATGTCGTTTTGTCACA	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.(50296-50298)Cga>Tga		titin							106	94	98					2																	179476842		1874	4098	5972	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179476842G>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.45373C>T	2.37:g.179476842G>A	ENSP00000465570:p.Arg15125*					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.R15125*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R7701*|TTN_ENST00000359218.5_Nonsense_Mutation_p.R7826*|TTN_ENST00000342992.6_Nonsense_Mutation_p.R14198*|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R7893*|TTN-AS1_ENST00000456053.1_RNA	p.R16766*	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)		267	50520	-			15125			Ig-like 101.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.50296C>T		.	.	.	.	.	.	.	.	.	.	G	59	37.731312	0.99984	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	6.17	0.537	0.17144	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.6047	0.45388	0.0:0.1944:0.2015:0.604	.	.	.	.	X	14198;7701;7893;7826;7701	.	ENSP00000340554:R7893X	R	-	1	2	TTN	179185087	1.000000	0.71417	0.988000	0.46212	0.995000	0.86356	1.702000	0.37836	0.136000	0.18733	0.655000	0.94253	CGA		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	14	0	0	0	1	0	16	14					A	179476842	G	A	179476842	4	1	264	1	0	0	0	0	0	1	0	0	16732	1153	40	1	57781	1	TTN	2	179476842	Nonsense_Mutation	SNP	G	TCGA-EL-A4K6-01A-12D-A257-08	83633593	179476842	63722531	8	5633											
SCN11A	11280	broad.mit.edu	37	chr3	38889182	38889182	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcggacaattctgaagagcGtcggagggaaaggaatgtgc	16	6	1	2			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr3:38889182G>A	ENST00000302328.3	-	26	4577	c.4379C>T	c.(4378-4380)aCg>aTg	p.T1460M	SCN11A_ENST00000456224.3_Missense_Mutation_p.T1422M|SCN11A_ENST00000450244.1_Missense_Mutation_p.T1460M	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1460					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTGAAGAGCGTCGGAGGGAA	0.493																																						ENST00000302328.3																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(4378-4380)aCg>aTg		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						40	44	42					3																	38889182		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38889182G>A	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.4379C>T	3.37:g.38889182G>A	ENSP00000307599:p.Thr1460Met					SCN11A_ENST00000456224.3_Missense_Mutation_p.T1422M|SCN11A_ENST00000450244.1_Missense_Mutation_p.T1460M	p.T1460M	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	26	4577	-			1460					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.4379C>T	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.920064	0.73098	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.98512	-4.97;-4.97;-4.97	5.83	3.72	0.42706	Ion transport (1);	0.102782	0.64402	D	0.000003	D	0.98735	0.9575	H	0.94734	3.575	0.38360	D	0.944577	D	0.67145	0.996	P	0.52343	0.696	D	0.99927	1.1294	10	0.87932	D	0	.	13.4439	0.61129	0.1476:0.0:0.8524:0.0	.	1460	Q9UI33	SCNBA_HUMAN	M	1460;1460;1422	ENSP00000307599:T1460M;ENSP00000400945:T1460M;ENSP00000416757:T1422M	ENSP00000307599:T1460M	T	-	2	0	SCN11A	38864186	1.000000	0.71417	0.669000	0.29828	0.966000	0.64601	5.743000	0.68655	1.471000	0.48121	0.650000	0.86243	ACG		0.493	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		17	22	0	0	0	1	0	17	22					A	38889182	G	A	38889182	3	1	264	1	0	0	0	0	1	0	0	0	13913	1145	40	1	1000	1	SCN11A	3	38889182	Missense_Mutation	SNP	G	TCGA-EL-A4K6-01A-12D-A257-08		38889182	159133248	9	5634											
PFKFB4	5210	broad.mit.edu	37	chr3	48561154	48561154	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgccttgtcgaggaagTaggccagcaggcagcgcatc	14	12	0	0			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr3:48561154T>C	ENST00000232375.3	-	11	1314	c.1202A>G	c.(1201-1203)tAc>tGc	p.Y401C	PFKFB4_ENST00000416568.1_Missense_Mutation_p.Y394C|PFKFB4_ENST00000383734.2_Missense_Mutation_p.Y366C|PFKFB4_ENST00000541519.1_Missense_Mutation_p.Y367C|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000536104.1_Missense_Mutation_p.Y390C	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	401	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GTCGAGGAAGTAGGCCAGCAG	0.602																																						ENST00000232375.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(1201-1203)tAc>tGc		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4							103	89	94					3																	48561154		2203	4300	6503	SO:0001583	missense	5210				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	g.chr3:48561154T>C	BC010269	CCDS2771.1	3p22-p21	2004-03-02			ENSG00000114268	ENSG00000114268			8875	protein-coding gene	gene with protein product		605320				8830046, 10095107	Standard	NM_004567		Approved		uc003ctv.3	Q16877	OTTHUMG00000133528	ENST00000232375.3:c.1202A>G	3.37:g.48561154T>C	ENSP00000232375:p.Tyr401Cys					PFKFB4_ENST00000383734.2_Missense_Mutation_p.Y366C|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000416568.1_Missense_Mutation_p.Y394C|PFKFB4_ENST00000541519.1_Missense_Mutation_p.Y367C|PFKFB4_ENST00000536104.1_Missense_Mutation_p.Y390C	p.Y401C	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	11	1314	-			401			Fructose-2,6-bisphosphatase.		Q5S3G5|Q5XLC2|Q64EX5	Missense_Mutation	SNP	ENST00000232375.3	37	c.1202A>G	CCDS2771.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.165114	0.78339	.	.	ENSG00000114268	ENST00000232375;ENST00000536104;ENST00000416568;ENST00000383734;ENST00000541519	.	.	.	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	D	0.87164	0.6109	H	0.97315	3.98	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;0.996;0.999;1.0	D	0.90752	0.4658	9	0.87932	D	0	-20.2928	11.9822	0.53125	0.0:0.0:0.0:1.0	.	390;366;394;401	B7Z5C3;Q5XLC2;Q66S35;Q16877	.;.;.;F264_HUMAN	C	401;390;394;366;367	.	ENSP00000232375:Y401C	Y	-	2	0	PFKFB4	48536158	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.804000	0.85993	1.915000	0.55452	0.460000	0.39030	TAC		0.602	PFKFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257503.2	NM_004567		40	39	0	0	0	1	0	40	39					C	48561154	T	C	48561154	3	2	264	1	0	0	0	0	1	0	0	0	11763	1638	57	3	223	3	PFKFB4	3	48561154	Missense_Mutation	SNP	T	TCGA-EL-A4K6-01A-12D-A257-08	9671972	48561154	149461276	10	5635											
C3orf1	51300	broad.mit.edu	37	chr3	119217604	119217604	+	Silent	SNP	G	G	T													gaggtgccgccaccggcaccGcggagctttctctgtagagc							TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr3:119217604G>T	ENST00000494664.1	+	1	226	c.24G>T	c.(22-24)ccG>ccT	p.P8P	TIMMDC1_ENST00000493694.1_Silent_p.P8P|RP11-190C22.8_ENST00000609598.1_lincRNA	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	8						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						CACCGGCACCGCGGAGCTTTC	0.602																																						ENST00000494664.1																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						c.(22-24)ccG>ccT		translocase of inner mitochondrial membrane domain containing 1							97	106	102					3																	119217604		2203	4300	6503	SO:0001819	synonymous_variant	51300					integral to membrane|mitochondrial inner membrane	protein transporter activity	g.chr3:119217604G>T	AF210057	CCDS33831.1	3q13.33	2013-12-05	2011-07-05	2011-07-05	ENSG00000113845	ENSG00000113845			1321	protein-coding gene	gene with protein product		615534	"chromosome 3 open reading frame 1"	C3orf1		11092749	Standard	NM_016589		Approved	FLJ22597	uc003ecn.3	Q9NPL8	OTTHUMG00000159388	ENST00000494664.1:c.24G>T	3.37:g.119217604G>T						TIMMDC1_ENST00000493694.1_Silent_p.P8P	p.P8P	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN			1	226	+			8					D3DN81|Q6IAJ7|Q6UWU6|Q9NPR3|Q9NPS5|Q9P0Y6	Silent	SNP	ENST00000494664.1	37	c.24G>T	CCDS33831.1																																																																																				0.602	TIMMDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355077.3	NM_016589		75	100	1	0	2.14232e-31	1	2.53696e-31	75	100					T	119217604	G	T	119217604	2	4	264	1	0	0	0	0	0	0	0	1	2206	1074	38	4		4	C3orf1	3	119217604	Silent	SNP	G	TCGA-EL-A4K6-01A-12D-A257-08	70656450	119217604	78804826	11	5636	28	2									
C3orf1	51300	broad.mit.edu	37	chr3	119217605	119217605	+	Missense_Mutation	SNP	C	C	T													aggtgccgccaccggcaccgCggagctttctctgtagagca							TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr3:119217605C>T	ENST00000494664.1	+	1	227	c.25C>T	c.(25-27)Cgg>Tgg	p.R9W	TIMMDC1_ENST00000493694.1_Missense_Mutation_p.R9W|RP11-190C22.8_ENST00000609598.1_lincRNA	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	9						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						ACCGGCACCGCGGAGCTTTCT	0.602																																						ENST00000494664.1																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						c.(25-27)Cgg>Tgg		translocase of inner mitochondrial membrane domain containing 1							98	107	104					3																	119217605		2203	4300	6503	SO:0001583	missense	51300					integral to membrane|mitochondrial inner membrane	protein transporter activity	g.chr3:119217605C>T	AF210057	CCDS33831.1	3q13.33	2013-12-05	2011-07-05	2011-07-05	ENSG00000113845	ENSG00000113845			1321	protein-coding gene	gene with protein product		615534	"chromosome 3 open reading frame 1"	C3orf1		11092749	Standard	NM_016589		Approved	FLJ22597	uc003ecn.3	Q9NPL8	OTTHUMG00000159388	ENST00000494664.1:c.25C>T	3.37:g.119217605C>T	ENSP00000418803:p.Arg9Trp					TIMMDC1_ENST00000493694.1_Missense_Mutation_p.R9W	p.R9W	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN			1	227	+			9					D3DN81|Q6IAJ7|Q6UWU6|Q9NPR3|Q9NPS5|Q9P0Y6	Missense_Mutation	SNP	ENST00000494664.1	37	c.25C>T	CCDS33831.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.841730	0.51057	.	.	ENSG00000113845	ENST00000494664;ENST00000493694;ENST00000466984	T;T;T	0.57273	1.15;0.51;0.41	4.85	0.82	0.18793	.	0.639946	0.15296	N	0.269887	T	0.44117	0.1278	L	0.57536	1.79	0.09310	N	1	D	0.60575	0.988	P	0.44477	0.451	T	0.42241	-0.9463	10	0.72032	D	0.01	0.0265	2.5516	0.04750	0.3432:0.3965:0.1667:0.0936	.	9	Q9NPL8	TIDC1_HUMAN	W	9	ENSP00000418803:R9W;ENSP00000419510:R9W;ENSP00000420122:R9W	ENSP00000264244:R9W	R	+	1	2	TIMMDC1	120700295	0.000000	0.05858	0.000000	0.03702	0.104000	0.19210	0.019000	0.13444	0.276000	0.22118	0.650000	0.86243	CGG		0.602	TIMMDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355077.3	NM_016589		76	101	0	0	0	1	0	76	101					T	119217605	C	T	119217605	3	4	264	1	0	0	0	0	1	0	0	0	2206	759	27	1	27	1	C3orf1	3	119217605	Missense_Mutation	SNP	C	TCGA-EL-A4K6-01A-12D-A257-08	1	119217605	78804825	12	5637	28	2									
PITX2	5308	broad.mit.edu	37	chr4	111539567	111539567	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ctgagggcaccatgctggacGacatgctcatggacgagata	13	10	1	2			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr4:111539567G>C	ENST00000354925.2	-	7	2373	c.668C>G	c.(667-669)tCg>tGg	p.S223W	PITX2_ENST00000394595.3_Silent_p.V154V|RP11-380D23.2_ENST00000503456.1_lincRNA|PITX2_ENST00000556049.1_5'Flank|PITX2_ENST00000355080.5_Missense_Mutation_p.S177W|PITX2_ENST00000394598.2_Missense_Mutation_p.S223W|PITX2_ENST00000306732.3_Missense_Mutation_p.S230W	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	223					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|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)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.S230L(1)|p.S223L(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CATGCTGGACGACATGCTCAT	0.547																																						ENST00000354925.2																			2	Substitution - Missense(2)	p.S230L(1)|p.S223L(1)	endometrium(2)	breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10						c.(667-669)tCg>tGg		paired-like homeodomain 2							77	75	76					4																	111539567		2203	4300	6503	SO:0001583	missense	5308				determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr4:111539567G>C	U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"Homeoboxes / PRD class"	9005	protein-coding gene	gene with protein product		601542	"paired-like homeodomain transcription factor 2"	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.668C>G	4.37:g.111539567G>C	ENSP00000347004:p.Ser223Trp					PITX2_ENST00000394598.2_Missense_Mutation_p.S223W|PITX2_ENST00000306732.3_Missense_Mutation_p.S230W|PITX2_ENST00000394595.3_Silent_p.V154V|PITX2_ENST00000355080.5_Missense_Mutation_p.S177W	p.S223W	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00222)	7	2373	-		Hepatocellular(203;0.217)	223					A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Missense_Mutation	SNP	ENST00000354925.2	37	c.668C>G	CCDS3692.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.547750	0.65311	.	.	ENSG00000164093	ENST00000306732;ENST00000394598;ENST00000355080;ENST00000354925;ENST00000511837	D;D;D;D;D	0.93763	-2.93;-3.05;-3.2;-3.05;-3.28	5.25	5.25	0.73442	.	0.107193	0.64402	D	0.000004	D	0.94958	0.8369	L	0.43923	1.385	0.80722	D	1	P;D;D;D	0.67145	0.946;0.969;0.996;0.993	P;B;D;P	0.64687	0.708;0.442;0.928;0.902	D	0.94679	0.7863	10	0.51188	T	0.08	.	19.0324	0.92963	0.0:0.0:1.0:0.0	.	177;177;223;230	A8K6C6;Q99697-3;Q99697;Q99697-2	.;.;PITX2_HUMAN;.	W	230;223;177;223;223	ENSP00000304169:S230W;ENSP00000378097:S223W;ENSP00000347192:S177W;ENSP00000347004:S223W;ENSP00000421454:S223W	ENSP00000304169:S230W	S	-	2	0	PITX2	111759016	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.657000	0.98554	2.737000	0.93849	0.563000	0.77884	TCG		0.547	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2			32	38	0	0	0	1	0	32	38					C	111539567	G	C	111539567	3	2	264	1	0	0	0	0	1	0	0	0	11955	1059	37	4	289	4	PITX2	4	111539567	Missense_Mutation	SNP	G	TCGA-EL-A4K6-01A-12D-A257-08		111539567	79614709	13	5638											
CTNND2	1501	broad.mit.edu	37	chr5	11159811	11159811	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgttggtcagtactgctAgggcatcctggatgattggc	14	10	1	1			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr5:11159811A>G	ENST00000304623.8	-	12	2225	c.2036T>C	c.(2035-2037)cTa>cCa	p.L679P	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.L246P|CTNND2_ENST00000359640.2_Missense_Mutation_p.L679P|CTNND2_ENST00000511377.1_Missense_Mutation_p.L588P|CTNND2_ENST00000503622.1_Missense_Mutation_p.L342P	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	679					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CAGTACTGCTAGGGCATCCTG	0.502																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(2035-2037)cTa>cCa		catenin (cadherin-associated protein), delta 2							185	168	174					5																	11159811		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11159811A>G	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2036T>C	5.37:g.11159811A>G	ENSP00000307134:p.Leu679Pro					CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.L588P|CTNND2_ENST00000458100.2_Missense_Mutation_p.L246P|CTNND2_ENST00000359640.2_Missense_Mutation_p.L679P|CTNND2_ENST00000503622.1_Missense_Mutation_p.L342P	p.L679P	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			12	2225	-			679					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.2036T>C	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.550703	0.86127	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44	6.16	6.16	0.99307	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74816	0.3766	M	0.79805	2.47	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.78314	0.96;0.96;0.991	T	0.78122	-0.2327	10	0.87932	D	0	-14.9743	16.8061	0.85666	1.0:0.0:0.0:0.0	.	342;246;679	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	P	679;679;588;246;342	ENSP00000307134:L679P;ENSP00000352661:L679P;ENSP00000426510:L588P;ENSP00000391155:L246P;ENSP00000426887:L342P	ENSP00000307134:L679P	L	-	2	0	CTNND2	11212811	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	8.874000	0.92363	2.367000	0.80283	0.528000	0.53228	CTA		0.502	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		12	121	0	0	0	1	0	12	121					G	11159811	A	G	11159811	3	3	264	1	0	0	0	0	1	0	0	0	4020	420	15	3	1685	3	CTNND2	5	11159811	Missense_Mutation	SNP	A	TCGA-EL-A4K6-01A-12D-A257-08		11159811	169755449	14	5639											
TIFAB	140947	broad.mit.edu	37	chr5	134785192	134785192	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggagatgccttcccattcGtcagtttcctcagcctcagg	10	13	3	1	rs377099358		TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr5:134785192G>A	ENST00000503143.2	-	0	0				CTB-138E5.1_ENST00000510230.1_RNA|TIFAB_ENST00000537858.1_Silent_p.D146D	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN								nucleus (GO:0005634)				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTTCCCATTCGTCAGTTTCCT	0.572																																						ENST00000537858.1																			0				breast(1)|endometrium(1)|liver(1)|lung(5)	8						c.(436-438)gaC>gaT		TRAF-interacting protein with forkhead-associated domain, family member B		G		1,3897		0,1,1948	61	65	64		438	-10.6	0.0	5		64	0,8280		0,0,4140	no	coding-synonymous	TIFAB	NM_001099221.1		0,1,6088	AA,AG,GG		0.0,0.0257,0.0082		146/162	134785192	1,12177	1949	4140	6089	SO:0001631	upstream_gene_variant	497189							g.chr5:134785192G>A																													5.37:g.134785192G>A	Exception_encountered						p.D146D	NM_001099221.1	NP_001092691.1	Q6ZNK6	TIFAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	638	-			146						Silent	SNP	ENST00000503143.2	37	c.438C>T	CCDS4186.1																																																																																				0.572	C5orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372531.1			42	63	0	0	0	1	0	42	63					A	134785192	G	A	134785192	1	1	264	0	1	0	0	0	0	0	0	0	15892	1136	40	1		1	TIFAB	5	134785192	5'Flank	SNP	G	TCGA-EL-A4K6-01A-12D-A257-08	123625381	134785192	46130068	15	5640											
HIST1H4E	8367	broad.mit.edu	37	chr6	26204872	26204872	+	De_novo_Start_InFrame	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attttcgttggtgtgttggtCatgtctggtcgcggcaaagg	15	6	2	0	rs144621549		TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr6:26204872C>A	ENST00000360441.4	+	0	15					NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e						CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				GTGTGTTGGTCATGTCTGGTC	0.498																																						ENST00000360441.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18								histone cluster 1, H4e							66	70	69					6																	26204872		2203	4300	6503			8367				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26204872C>A	Z80787	CCDS4593.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198518	ENSG00000276966		"Histones / Replication-dependent"	4790	protein-coding gene	gene with protein product		602830	"H4 histone family, member J", "histone 1, H4e"	H4FJ		9119399, 12408966	Standard	NM_003545		Approved	H4/j	uc003ngy.3	P62805	OTTHUMG00000014441		6.37:g.26204872C>A								NM_003545.3	NP_003536.1	P62805	H4_HUMAN			0	15	+		all_hematologic(11;0.196)						A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Translation_Start_Site	SNP	ENST00000360441.4	37		CCDS4593.1																																																																																				0.498	HIST1H4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040104.1	NM_003545		46	67	1	0	4.01344e-20	1	4.63089e-20	46	67					A	26204872	C	A	26204872	1	1	264	1	0	1	0	0	0	0	0	0	7169	841	29	4		4	HIST1H4E	6	26204872	De_novo_Start_InFrame	SNP	C	TCGA-EL-A4K6-01A-12D-A257-08		26204872	144910195	16	5641											
CCDC129	223075	broad.mit.edu	37	chr7	31592727	31592727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgaagtgcaccaaaagcgCgtgggctccgctggatgagt	14	11	0	2			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr7:31592727C>T	ENST00000407970.3	+	2	127	c.89C>T	c.(88-90)gCg>gTg	p.A30V	CCDC129_ENST00000409210.1_5'Flank|CCDC129_ENST00000319386.3_Missense_Mutation_p.A30V|CCDC129_ENST00000451887.2_Missense_Mutation_p.A56V|CCDC129_ENST00000482748.1_Intron	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	30										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ACCAAAAGCGCGTGGGCTCCG	0.537																																						ENST00000319386.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(88-90)gCg>gTg		coiled-coil domain containing 129																																				SO:0001583	missense	223075							g.chr7:31592727C>T	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.89C>T	7.37:g.31592727C>T	ENSP00000384416:p.Ala30Val					CCDC129_ENST00000407970.3_Missense_Mutation_p.A30V|CCDC129_ENST00000482748.1_Intron|CCDC129_ENST00000451887.2_Missense_Mutation_p.A56V	p.A30V			Q6ZRS4	CC129_HUMAN			2	1082	+			30					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.89C>T	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	C	5.912	0.352423	0.11182	.	.	ENSG00000180347	ENST00000409717;ENST00000456011;ENST00000319386;ENST00000407970;ENST00000454513;ENST00000451887;ENST00000538406	T;T;T;T;T;T	0.52754	0.65;0.71;1.96;2.13;0.68;2.12	5.35	2.59	0.31030	.	0.000000	0.45606	D	0.000352	T	0.32971	0.0847	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.30211	0.273;0.273;0.273;0.273	B;B;B;B	0.28305	0.088;0.088;0.088;0.066	T	0.13764	-1.0497	10	0.23891	T	0.37	-8.7493	10.6813	0.45815	0.0:0.8304:0.0:0.1696	.	56;40;30;30	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	V	30;30;30;30;30;56;40	ENSP00000387220:A30V;ENSP00000390544:A30V;ENSP00000313062:A30V;ENSP00000384416:A30V;ENSP00000413233:A30V;ENSP00000395835:A56V	ENSP00000313062:A30V	A	+	2	0	CCDC129	31559252	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.151000	0.16283	0.493000	0.27837	-0.940000	0.02684	GCG		0.537	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		10	7	0	0	0	1	0	10	7					T	31592727	C	T	31592727	3	4	264	1	0	0	0	0	1	0	0	0	2764	768	27	1	91	1	CCDC129	7	31592727	Missense_Mutation	SNP	C	TCGA-EL-A4K6-01A-12D-A257-08		31592727	127545936	17	5642											
ADCY1	107	broad.mit.edu	37	chr7	45688322	45688322	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactgctactactgcgtgtcGggcctcacccagcccaagac	10	16	1	1			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr7:45688322G>A	ENST00000297323.7	+	5	1096	c.1074G>A	c.(1072-1074)tcG>tcA	p.S358S	ADCY1_ENST00000432715.1_Silent_p.S133S	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	358					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)	ACTGCGTGTCGGGCCTCACCC	0.577																																						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.(1072-1074)tcG>tcA		adenylate cyclase 1 (brain)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)						113	90	98					7																	45688322		2203	4300	6503	SO:0001819	synonymous_variant	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.chr7:45688322G>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.1074G>A	7.37:g.45688322G>A						ADCY1_ENST00000432715.1_Silent_p.S133S	p.S358S	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN			5	1096	+			358					A4D2L8|Q75MI1	Silent	SNP	ENST00000297323.7	37	c.1074G>A	CCDS34631.1																																																																																				0.577	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		15	41	0	0	0	1	0	15	41					A	45688322	G	A	45688322	2	1	264	1	0	0	0	0	0	0	0	1	292	1103	39	1		1	ADCY1	7	45688322	Silent	SNP	G	TCGA-EL-A4K6-01A-12D-A257-08	14095595	45688322	113450341	18	5643											
ABP1	26	broad.mit.edu	37	chr7	150553564	150553564	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgtggagcgagagatgccGgccctgggctgggccgtggc	20	12	0	1	rs565800850		TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr7:150553564G>A	ENST00000493429.1	+	4	590	c.6G>A	c.(4-6)ccG>ccA	p.P2P	AOC1_ENST00000416793.2_Silent_p.P2P|AOC1_ENST00000360937.4_Silent_p.P2P|AOC1_ENST00000467291.1_Silent_p.P2P			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	2					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)	p.P2P(1)								Amiloride(DB00594)	GAGAGATGCCGGCCCTGGGCT	0.607													G|||	1	0.000199681	0	0.0014	5008	,	,		19665	0		0	False		,,,				2504	0					ENST00000493429.1																			1	Substitution - coding silent(1)	p.P2P(1)	lung(1)								c.(4-6)ccG>ccA		amine oxidase, copper containing 1							28	30	29					7																	150553564		1933	4130	6063	SO:0001819	synonymous_variant	26							g.chr7:150553564G>A	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"diamine oxidase"	104610	"amiloride binding protein 1 (amine oxidase (copper-containing))"	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.6G>A	7.37:g.150553564G>A						AOC1_ENST00000360937.4_Silent_p.P2P|AOC1_ENST00000467291.1_Silent_p.P2P|AOC1_ENST00000416793.2_Silent_p.P2P	p.P2P							4	590	+								C9J690|Q16683|Q16684|Q56II4|Q6GU42	Silent	SNP	ENST00000493429.1	37	c.6G>A	CCDS43679.1																																																																																				0.607	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		27	35	0	0	0	1	0	27	35					A	150553564	G	A	150553564	2	1	264	1	0	0	0	0	0	0	0	1	98	1103	39	1		1	ABP1	7	150553564	Silent	SNP	G	TCGA-EL-A4K6-01A-12D-A257-08	104865242	150553564	8585099	19	5644											
PRKDC	5591	broad.mit.edu	37	chr8	48686858	48686858	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggttcttgggcacgaatgTtgtgatctttgcttcctcgt	11	9	2	1			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr8:48686858T>C	ENST00000314191.2	-	87	12316	c.12260A>G	c.(12259-12261)aAc>aGc	p.N4087S	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.N4056S	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	4088					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GGCACGAATGTTGTGATCTTT	0.512								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(12259-12261)aAc>aGc	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							106	99	102					8																	48686858		1969	4137	6106	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48686858T>C		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.12260A>G	8.37:g.48686858T>C	ENSP00000313420:p.Asn4087Ser					PRKDC_ENST00000338368.3_Missense_Mutation_p.N4056S|PRKDC_ENST00000523565.1_5'UTR	p.N4087S	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			87	12316	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	4088					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.12260A>G		.	.	.	.	.	.	.	.	.	.	T	14.08	2.428276	0.43122	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02552	4.25;4.27	5.86	4.71	0.59529	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.139910	0.64402	N	0.000007	T	0.04588	0.0125	L	0.58583	1.82	0.58432	D	0.999994	B;B	0.23442	0.047;0.085	B;B	0.21151	0.033;0.032	T	0.32428	-0.9907	10	0.40728	T	0.16	.	11.8871	0.52608	0.0:0.0682:0.0:0.9318	.	4056;4088	E7EUY0;P78527	.;PRKDC_HUMAN	S	4087;4056	ENSP00000313420:N4087S;ENSP00000345182:N4056S	ENSP00000313420:N4087S	N	-	2	0	PRKDC	48849411	1.000000	0.71417	0.796000	0.32109	0.297000	0.27493	4.006000	0.57083	1.044000	0.40200	0.528000	0.53228	AAC		0.512	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		9	12	0	0	0	1	0	9	12					C	48686858	T	C	48686858	3	2	264	1	0	0	0	0	1	0	0	0	12521	1725	60	3	127	3	PRKDC	8	48686858	Missense_Mutation	SNP	T	TCGA-EL-A4K6-01A-12D-A257-08		48686858	97677164	20	5645											
SLA	6503	broad.mit.edu	37	chr8	134050954	134050955	+	Frame_Shift_Del	DEL	TC	TC	-													ctcgtctaccccaagcgggtTctctgttccctcggggtcct							TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr8:134050954_134050955delTC	ENST00000338087.5	-	9	1464_1465	c.645_646delGA	c.(643-648)gagaacfs	p.N216fs	SLA_ENST00000427060.2_Frame_Shift_Del_p.N256fs|TG_ENST00000519543.1_Intron|SLA_ENST00000524345.1_Frame_Shift_Del_p.N108fs|TG_ENST00000220616.4_Intron|TG_ENST00000377869.1_Intron|SLA_ENST00000395352.3_Frame_Shift_Del_p.N233fs|TG_ENST00000542445.1_Intron|SLA_ENST00000517648.1_Frame_Shift_Del_p.N189fs	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	216	SLA C-terminal.				positive regulation of signal transduction (GO:0009967)	endosome (GO:0005768)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			CCAAGCGGGTTCTCTGTTCCCT	0.53																																						ENST00000338087.5																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17						c.(643-648)gaacfs		Src-like-adaptor																																				SO:0001589	frameshift_variant	6503					endosome	SH3/SH2 adaptor activity	g.chr8:134050954_134050955delTC		CCDS6370.1, CCDS47922.1, CCDS47923.1, CCDS64977.1, CCDS64978.1	8q24.22	2013-09-19	2001-11-28		ENSG00000155926	ENSG00000155926		"SH2 domain containing"	10902	protein-coding gene	gene with protein product		601099	"Src-like-adapter"			8825655, 11179692	Standard	NM_001045556		Approved	SLA1	uc011ljd.2	Q13239	OTTHUMG00000164439	ENST00000338087.5:c.645_646delGA	8.37:g.134050956_134050957delTC	ENSP00000337548:p.Asn216fs					TG_ENST00000377869.1_Intron|SLA_ENST00000517648.1_Frame_Shift_Del_p.EN188fs|SLA_ENST00000524345.1_Frame_Shift_Del_p.EN107fs|SLA_ENST00000395352.3_Frame_Shift_Del_p.EN232fs|TG_ENST00000519543.1_Intron|SLA_ENST00000427060.2_Frame_Shift_Del_p.EN255fs|TG_ENST00000220616.4_Intron|TG_ENST00000542445.1_Intron	p.EN215fs	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)		9	1464_1465	-	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	215			SLA C-terminal.		B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8	Frame_Shift_Del	DEL	ENST00000338087.5	37	c.645_646delGA	CCDS6370.1																																																																																				0.53	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378771.1			29	34						29	34	---	---	---	---	-	134050955	TC	-	134050954	7	5	264	1	0	1	0	1	0	0	0	0	14363	1783	62	0	188	0	SLA	8	134050954	Frame_Shift_Del	DEL	TC	TCGA-EL-A4K6-01A-12D-A257-08	85364096	134050954	12313068	21	5646											
ORM1	5004	broad.mit.edu	37	chr9	117086322	117086322	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaccagtgcatctataacacCacctacctgaatgtccagcg	7	14	1	1			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr9:117086322C>G	ENST00000259396.8	+	3	360	c.282C>G	c.(280-282)acC>acG	p.T94T	ORM1_ENST00000538816.1_3'UTR|ORM1_ENST00000477456.1_3'UTR	NM_000607.2	NP_000598.2	P02763	A1AG1_HUMAN	orosomucoid 1	94					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|regulation of immune system process (GO:0002682)|transport (GO:0006810)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Abiraterone(DB05812)|Acenocoumarol(DB01418)|Ajmaline(DB01426)|Alfentanil(DB00802)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aprindine(DB01429)|Bupropion(DB01156)|Canagliflozin(DB08907)|Celecoxib(DB00482)|Chlorpromazine(DB00477)|Desipramine(DB01151)|Disopyramide(DB00280)|Doxazosin(DB00590)|Doxepin(DB01142)|Erlotinib(DB00530)|Fluoxetine(DB00472)|Gefitinib(DB00317)|Imatinib(DB00619)|Imipramine(DB00458)|Ivacaftor(DB08820)|Maprotiline(DB00934)|Mirabegron(DB08893)|Nateglinide(DB00731)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxycodone(DB00497)|Penbutolol(DB01359)|Pethidine(DB00454)|Phenprocoumon(DB00946)|Pitavastatin(DB08860)|Prazosin(DB00457)|Propranolol(DB00571)|Quinidine(DB00908)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Tamsulosin(DB00706)|Telaprevir(DB05521)|Thalidomide(DB01041)|Trazodone(DB00656)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Vismodegib(DB08828)|Warfarin(DB00682)	TCTATAACACCACCTACCTGA	0.552																																						ENST00000259396.8																			0				endometrium(2)|large_intestine(4)|lung(2)	8						c.(280-282)acC>acG		orosomucoid 1	Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)						151	160	157					9																	117086322		2203	4300	6503	SO:0001819	synonymous_variant	5004				acute-phase response|regulation of immune system process|transport	extracellular space	protein binding	g.chr9:117086322C>G		CCDS6803.1	9q32	2013-09-19			ENSG00000229314	ENSG00000229314		"Lipocalins"	8498	protein-coding gene	gene with protein product		138600					Standard	NM_000607		Approved		uc004bik.4	P02763	OTTHUMG00000021012	ENST00000259396.8:c.282C>G	9.37:g.117086322C>G						ORM1_ENST00000477456.1_3'UTR|ORM1_ENST00000538816.1_3'UTR	p.T94T	NM_000607.2	NP_000598.2	P02763	A1AG1_HUMAN			3	360	+		Myeloproliferative disorder(63;0.163)	94					B7ZKQ5|Q5T539|Q5U067|Q8TC16	Silent	SNP	ENST00000259396.8	37	c.282C>G	CCDS6803.1																																																																																				0.552	ORM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055426.1			30	224	0	0	0	1	0	30	224					G	117086322	C	G	117086322	2	3	264	1	0	0	0	0	0	0	0	1	11267	581	21	4		4	ORM1	9	117086322	Silent	SNP	C	TCGA-EL-A4K6-01A-12D-A257-08		117086322	24127109	22	5647											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105420865	105420865	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcatgggctcggcggtggcGtcggcacctggcgagggcag	19	11	1	0			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr10:105420865G>T	ENST00000369774.4	-	8	756	c.480C>A	c.(478-480)gaC>gaA	p.D160E	SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Missense_Mutation_p.D22E|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.D27E|SH3PXD2A_ENST00000538130.1_5'UTR|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.D160E			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	160					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CGGCGGTGGCGTCGGCACCTG	0.692																																						ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(478-480)gaC>gaA		SH3 and PX domains 2A							100	104	102					10																	105420865		2203	4300	6503	SO:0001583	missense	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105420865G>T	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"five SH3 domains"		"SH3 multiple domains 1"	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.480C>A	10.37:g.105420865G>T	ENSP00000358789:p.Asp160Glu					SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Missense_Mutation_p.D22E|SH3PXD2A_ENST00000538130.1_5'UTR|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.D160E|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.D27E	p.D160E			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	8	756	-		Colorectal(252;0.0815)|Breast(234;0.131)	160					D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37	c.480C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.77|17.77	3.472140|3.472140	0.63737|0.63737	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000427662;ENST00000369774;ENST00000355946;ENST00000536035;ENST00000540321|ENST00000420222	T;T;T;T|.	0.67171|.	-0.25;0.51;0.56;0.45|.	5.37|5.37	5.37|5.37	0.77165|0.77165	Src homology-3 domain (1);|.	0.060239|.	0.64402|.	D|.	0.000008|.	T|T	0.49012|0.49012	0.1532|0.1532	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	P;D;P;P|.	0.63046|.	0.905;0.992;0.562;0.943|.	P;P;B;P|.	0.57502|.	0.451;0.822;0.096;0.653|.	T|T	0.42882|0.42882	-0.9425|-0.9425	10|5	0.02654|.	T|.	1|.	-45.4549|-45.4549	12.8823|12.8823	0.58024|0.58024	0.0846:0.0:0.9154:0.0|0.0846:0.0:0.9154:0.0	.|.	160;37;22;160|.	Q5TCZ1;B7Z9L8;F8WCK5;Q5TCZ1-3|.	SPD2A_HUMAN;.;.;.|.	E|S	22;160;160;75;27|115	ENSP00000392664:D22E;ENSP00000358789:D160E;ENSP00000348215:D160E;ENSP00000443663:D27E|.	ENSP00000348215:D160E|.	D|R	-|-	3|1	2|0	SH3PXD2A|SH3PXD2A	105410855|105410855	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	2.772000|2.772000	0.47678|0.47678	2.504000|2.504000	0.84457|0.84457	0.561000|0.561000	0.74099|0.74099	GAC|CGC		0.692	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		83	90	1	0	1.42954e-44	1	1.78693e-44	83	90					T	105420865	G	T	105420865	3	4	264	1	0	0	0	0	1	0	0	0	14256	1136	40	4	2865	4	SH3PXD2A	10	105420865	Missense_Mutation	SNP	G	TCGA-EL-A4K6-01A-12D-A257-08		105420865	30113882	23	5648											
OR52A1	23538	broad.mit.edu	37	chr11	5172912	5172912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcctccttctggggcaaacGaaaaactgtgataaatatct	8	9	2	1			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr11:5172912G>A	ENST00000380367.1	-	2	1105	c.688C>T	c.(688-690)Cgt>Tgt	p.R230C	OR52A1_ENST00000328942.1_Missense_Mutation_p.R230C			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	230					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGGCAAACGAAAAACTGTG	0.423																																						ENST00000380367.1																			0				breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19						c.(688-690)Cgt>Tgt		olfactory receptor, family 52, subfamily A, member 1							165	152	157					11																	5172912		2201	4298	6499	SO:0001583	missense	23538				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr11:5172912G>A	AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"GPCR / Class A : Olfactory receptors"	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.688C>T	11.37:g.5172912G>A	ENSP00000369725:p.Arg230Cys					OR52A1_ENST00000328942.1_Missense_Mutation_p.R230C	p.R230C			Q9UKL2	O52A1_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1105	-		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)	230					Q6IF31	Missense_Mutation	SNP	ENST00000380367.1	37	c.688C>T	CCDS31374.1	.	.	.	.	.	.	.	.	.	.	G	4.139	0.024086	0.08006	.	.	ENSG00000182070	ENST00000380367;ENST00000328942	T;T	0.00267	8.38;8.38	5.33	-1.38	0.09027	GPCR, rhodopsin-like superfamily (1);	1.100120	0.06929	N	0.810707	T	0.00210	0.0006	M	0.67625	2.065	0.09310	N	1	B	0.19200	0.034	B	0.15484	0.013	T	0.20907	-1.0261	10	0.45353	T	0.12	.	5.6185	0.17444	0.0716:0.093:0.3925:0.443	.	230	Q9UKL2	O52A1_HUMAN	C	230	ENSP00000369725:R230C;ENSP00000333684:R230C	ENSP00000333684:R230C	R	-	1	0	OR52A1	5129488	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.532000	0.02217	-0.101000	0.12219	-0.850000	0.03035	CGT		0.423	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142810.2	NM_012375		5	84	0	0	0	1	0	5	84					A	5172912	G	A	5172912	3	1	264	1	0	0	0	0	1	0	0	0	11108	1058	37	1	252	1	OR52A1	11	5172912	Missense_Mutation	SNP	G	TCGA-EL-A4K6-01A-12D-A257-08		5172912	129833604	24	5649											
SHANK2	22941	broad.mit.edu	37	chr11	70333190	70333190	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgctgacggtcaggctttCgtcaggccgcagctggctcg	15	13	2	1			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr11:70333190C>T	ENST00000423696.2	-	15	2107	c.2071G>A	c.(2071-2073)Gaa>Aaa	p.E691K	SHANK2_ENST00000449833.2_Missense_Mutation_p.E475K|SHANK2_ENST00000409161.1_Missense_Mutation_p.E474K|SHANK2_ENST00000338508.4_Missense_Mutation_p.E1071K			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	691					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GTCAGGCTTTCGTCAGGCCGC	0.701																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(3211-3213)Gaa>Aaa		SH3 and multiple ankyrin repeat domains 2							31	36	34					11																	70333190		2180	4244	6424	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70333190C>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2071G>A	11.37:g.70333190C>T	ENSP00000394536:p.Glu691Lys					SHANK2_ENST00000449833.2_Missense_Mutation_p.E475K|SHANK2_ENST00000409161.1_Missense_Mutation_p.E474K|SHANK2_ENST00000423696.2_Missense_Mutation_p.E691K	p.E1071K			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	3210	-			691					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.3211G>A		.	.	.	.	.	.	.	.	.	.	C	15.46	2.839087	0.51057	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94	4.73	4.73	0.59995	.	0.046857	0.85682	D	0.000000	T	0.30603	0.0770	N	0.24115	0.695	0.80722	D	1	B;B;B	0.32731	0.002;0.382;0.165	B;B;B	0.25987	0.002;0.049;0.065	T	0.13098	-1.0522	10	0.44086	T	0.13	.	17.6921	0.88271	0.0:1.0:0.0:0.0	.	691;1070;475	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	K	475;474;349;1071;691;709;694	ENSP00000399423:E475K;ENSP00000386491:E474K;ENSP00000402944:E349K;ENSP00000345193:E1071K;ENSP00000394536:E691K;ENSP00000294018:E694K	ENSP00000294018:E694K	E	-	1	0	SHANK2	70010838	1.000000	0.71417	0.902000	0.35471	0.596000	0.36781	7.290000	0.78711	2.182000	0.69389	0.561000	0.74099	GAA		0.701	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		29	47	0	0	0	1	0	29	47					T	70333190	C	T	70333190	3	4	264	1	0	0	0	0	1	0	0	0	14265	893	31	1	2349	1	SHANK2	11	70333190	Missense_Mutation	SNP	C	TCGA-EL-A4K6-01A-12D-A257-08	65160278	70333190	64673326	25	5650											
ARHGAP32	9743	broad.mit.edu	37	chr11	129034263	129034263	+	Frame_Shift_Del	DEL	T	T	-													gccgctctcgagggtgtacaTttctatgtagctctggaaca							TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr11:129034263delT	ENST00000310343.9	-	2	175	c.176delA	c.(175-177)aatfs	p.N59fs	ARHGAP32_ENST00000524655.1_5'Flank	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	59					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						AGGGTGTACATTTCTATGTAG	0.348																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(175-177)atfs		Rho GTPase activating protein 32							74	65	68					11																	129034263		1566	3578	5144	SO:0001589	frameshift_variant	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:129034263delT	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.176delA	11.37:g.129034263delT	ENSP00000310561:p.Asn59fs						p.N59fs	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			2	175	-			59					I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Frame_Shift_Del	DEL	ENST00000310343.9	37	c.176delA	CCDS44769.1																																																																																				0.348	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		2	4						2	4	---	---	---	---	-	129034263	T	-	129034263	7	5	264	1	0	1	0	1	0	0	0	0	881	1493	52	0	6171	0	ARHGAP32	11	129034263	Frame_Shift_Del	DEL	T	TCGA-EL-A4K6-01A-12D-A257-08	58701073	129034263	5972253	26	5651											
C12orf71	728858	broad.mit.edu	37	chr12	27234344	27234344	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctctggctgctctgacagGattgaggagatctctggagc	13	9	3	3			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr12:27234344G>A	ENST00000429849.2	-	2	603	c.573C>T	c.(571-573)atC>atT	p.I191I		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	191										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						GCTCTGACAGGATTGAGGAGA	0.537																																						ENST00000429849.2																			0				endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						c.(571-573)atC>atT		chromosome 12 open reading frame 71							161	147	152					12																	27234344		2076	4215	6291	SO:0001819	synonymous_variant	728858							g.chr12:27234344G>A		CCDS44851.1	12p11.23	2008-07-25			ENSG00000214700	ENSG00000214700			34452	protein-coding gene	gene with protein product							Standard	NM_001080406		Approved	LOC728858	uc001rhq.3	A8MTZ7	OTTHUMG00000169274	ENST00000429849.2:c.573C>T	12.37:g.27234344G>A							p.I191I	NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN			2	603	-			191						Silent	SNP	ENST00000429849.2	37	c.573C>T	CCDS44851.1																																																																																				0.537	C12orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403258.1	NM_001080406		55	51	0	0	0	1	0	55	51					A	27234344	G	A	27234344	2	1	264	1	0	0	0	0	0	0	0	1	1712	1164	41	2		2	C12orf71	12	27234344	Silent	SNP	G	TCGA-EL-A4K6-01A-12D-A257-08		27234344	106617551	27	5652											
DIS3	22894	broad.mit.edu	37	chr13	73345948	73345948	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttaccttttcacaaagataCacagttgttcctcttctggc	5	11	3	1			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr13:73345948C>T	ENST00000377767.4	-	11	1690	c.1590G>A	c.(1588-1590)gtG>gtA	p.V530V	DIS3_ENST00000545453.1_Silent_p.V368V|DIS3_ENST00000377780.4_Silent_p.V500V	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	530					CUT catabolic process (GO:0071034)|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)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		CACAAAGATACACAGTTGTTC	0.338										Multiple Myeloma(4;0.011)																												ENST00000377767.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35						c.(1588-1590)gtG>gtA		DIS3 mitotic control homolog (S. cerevisiae)							85	85	85					13																	73345948		2203	4300	6503	SO:0001819	synonymous_variant	22894				CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding	g.chr13:73345948C>T	AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"exosome component 11"	607533	"KIAA1008", "DIS3 mitotic control homolog (S. cerevisiae)"	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.1590G>A	13.37:g.73345948C>T		Multiple Myeloma(4;0.011)				DIS3_ENST00000545453.1_Silent_p.V368V|DIS3_ENST00000377780.4_Silent_p.V500V	p.V530V	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN		GBM - Glioblastoma multiforme(99;0.000181)	11	1690	-		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)	530					A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Silent	SNP	ENST00000377767.4	37	c.1590G>A	CCDS9447.1																																																																																				0.338	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953		7	73	0	0	0	1	0	7	73					T	73345948	C	T	73345948	2	4	264	1	0	0	0	0	0	0	0	1	4535	465	17	2		2	DIS3	13	73345948	Silent	SNP	C	TCGA-EL-A4K6-01A-12D-A257-08		73345948	41823930	28	5653											
LRRC3	81543	broad.mit.edu	37	chr21	45876948	45876948	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaactcagcgccaagataCgcctgtcccacaaccccctg	7	18	1	1			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr21:45876948C>T	ENST00000291592.4	+	2	738	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	LRRC3-AS1_ENST00000426578.1_RNA|LRRC3DN_ENST00000596691.1_5'Flank	NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	141						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		CGCCAAGATACGCCTGTCCCA	0.672																																						ENST00000291592.4																			0				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						c.(421-423)Cgc>Tgc		leucine rich repeat containing 3							40	42	41					21																	45876948		2203	4300	6503	SO:0001583	missense	81543					integral to membrane	protein binding	g.chr21:45876948C>T	AB058646	CCDS13711.1	21q22.3	2011-12-07	2002-06-20		ENSG00000160233	ENSG00000160233			14965	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 102"	C21orf102		12036297	Standard	NM_030891		Approved		uc002zfa.3	Q9BY71	OTTHUMG00000040847	ENST00000291592.4:c.421C>T	21.37:g.45876948C>T	ENSP00000291592:p.Arg141Cys						p.R141C	NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)	2	738	+		Breast(209;0.00908)	141					Q0VDJ2	Missense_Mutation	SNP	ENST00000291592.4	37	c.421C>T	CCDS13711.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163856	0.78226	.	.	ENSG00000160233	ENST00000291592	D	0.90385	-2.66	4.82	4.82	0.62117	.	0.186781	0.46758	D	0.000271	D	0.93344	0.7878	L	0.54323	1.7	0.58432	D	0.999997	D	0.89917	1.0	D	0.63703	0.917	D	0.92710	0.6182	10	0.39692	T	0.17	-60.251	17.9134	0.88942	0.0:1.0:0.0:0.0	.	141	Q9BY71	LRRC3_HUMAN	C	141	ENSP00000291592:R141C	ENSP00000291592:R141C	R	+	1	0	LRRC3	44701376	0.967000	0.33354	1.000000	0.80357	0.988000	0.76386	0.761000	0.26489	2.397000	0.81536	0.561000	0.74099	CGC		0.672	LRRC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098095.3			13	65	0	0	0	1	0	13	65					T	45876948	C	T	45876948	3	4	264	1	0	0	0	0	1	0	0	0	8984	536	19	1	423	1	LRRC3	21	45876948	Missense_Mutation	SNP	C	TCGA-EL-A4K6-01A-12D-A257-08		45876948	2252947	29	5654											
RPA2	6118	broad.mit.edu	37	chr1	28233710	28233710	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	acctgtgaaatctcaacattCccaattctgaacacttcatc	3	13	3	2			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr1:28233710C>G	ENST00000373912.3	-	3	500	c.201G>C	c.(199-201)ggG>ggC	p.G67G	RPA2_ENST00000313433.7_Silent_p.G155G|RPA2_ENST00000373909.3_Silent_p.G75G	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN	replication protein A2, 32kDa	67					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of DNA damage checkpoint (GO:2000001)|regulation of double-strand break repair via homologous recombination (GO:0010569)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|enzyme binding (GO:0019899)|protein phosphatase binding (GO:0019903)|single-stranded DNA binding (GO:0003697)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCAACATTCCCAATTCTGA	0.348								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000373912.3																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11						c.(199-201)ggG>ggC	Direct reversal of damage;Nucleotide excision repair (NER)	replication protein A2, 32kDa							103	112	109					1																	28233710		2203	4300	6503	SO:0001819	synonymous_variant	6118				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body	protein phosphatase binding|single-stranded DNA binding	g.chr1:28233710C>G	BC021257	CCDS314.1, CCDS72740.1	1p35	2008-02-05	2002-08-29		ENSG00000117748	ENSG00000117748			10290	protein-coding gene	gene with protein product		179836	"replication protein A2 (32kD)"			8454588	Standard	XM_005245965		Approved		uc001bpe.1	P15927	OTTHUMG00000003915	ENST00000373912.3:c.201G>C	1.37:g.28233710C>G						RPA2_ENST00000313433.7_Silent_p.G155G|RPA2_ENST00000373909.3_Silent_p.G75G	p.G67G	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)	3	500	-		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)	67					Q52II0|Q5TEI9|Q5TEJ5	Silent	SNP	ENST00000373912.3	37	c.201G>C	CCDS314.1																																																																																				0.348	RPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011179.1	NM_002946		11	187	0	0	0	1	0	11	187					G	28233710	C	G	28233710	2	3	265	1	0	0	0	0	0	0	0	1	13537	842	30	4		4	RPA2	1	28233710	Silent	SNP	C	TCGA-EL-A4K7-01A-11D-A257-08		28233710	221016911	1	5655											
HIVEP3	59269	broad.mit.edu	37	chr1	42048045	42048045	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctcgagagaatcagaTttctcaaaggagctggtgtg	14	7	2	2			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr1:42048045T>C	ENST00000372583.1	-	4	3309	c.2424A>G	c.(2422-2424)aaA>aaG	p.K808K	HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000247584.5_Silent_p.K808K|HIVEP3_ENST00000429157.2_Silent_p.K808K|HIVEP3_ENST00000372584.1_Silent_p.K808K	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	808	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.|Ser-rich.				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)				GAGAATCAGATTTCTCAAAGG	0.557																																						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.(2422-2424)aaA>aaG		human immunodeficiency virus type I enhancer binding protein 3							47	50	49					1																	42048045		2203	4300	6503	SO:0001819	synonymous_variant	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42048045T>C	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.2424A>G	1.37:g.42048045T>C						HIVEP3_ENST00000372583.1_Silent_p.K808K|HIVEP3_ENST00000247584.5_Silent_p.K808K|HIVEP3_ENST00000429157.2_Silent_p.K808K	p.K808K	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	3438	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	808			No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich.		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	ENST00000372583.1	37	c.2424A>G	CCDS463.1																																																																																				0.557	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		4	88	0	0	0	1	0	4	88					C	42048045	T	C	42048045	2	2	265	1	0	0	0	0	0	0	0	1	7188	1490	52	3		3	HIVEP3	1	42048045	Silent	SNP	T	TCGA-EL-A4K7-01A-11D-A257-08	13814335	42048045	207202576	2	5656											
AK5	26289	broad.mit.edu	37	chr1	77763407	77763407	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attacaactggagaattggcCccacaggtactgctgtataa	9	9	0	1			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr1:77763407C>A	ENST00000354567.2	+	4	842	c.579C>A	c.(577-579)gcC>gcA	p.A193A	AK5_ENST00000317704.4_3'UTR|AK5_ENST00000344720.5_Silent_p.A167A	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	193	Adenylate kinase 1.|NMPbind 1. {ECO:0000250}.				ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GAGAATTGGCCCCACAGGTAC	0.358																																						ENST00000344720.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						c.(499-501)gcC>gcA		adenylate kinase 5							86	87	87					1																	77763407		2203	4300	6503	SO:0001819	synonymous_variant	26289				ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	g.chr1:77763407C>A	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"Adenylate kinases"	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.579C>A	1.37:g.77763407C>A						AK5_ENST00000317704.4_3'UTR|AK5_ENST00000354567.2_Silent_p.A193A	p.A167A	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN			4	1527	+			193					Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Silent	SNP	ENST00000354567.2	37	c.501C>A	CCDS675.1																																																																																				0.358	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858		7	78	1	0	0.000157383	1	0.000172614	7	78					A	77763407	C	A	77763407	2	1	265	1	0	0	0	0	0	0	0	1	443	610	22	4		4	AK5	1	77763407	Silent	SNP	C	TCGA-EL-A4K7-01A-11D-A257-08	35715362	77763407	171487214	3	5657											
SELENBP1	8991	broad.mit.edu	37	chr1	151338854	151338854	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggatctccaagggaataagcCcatcttttagagacagggtc	11	9	2	1			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr1:151338854C>A	ENST00000368868.5	-	7	831	c.740G>T	c.(739-741)gGg>gTg	p.G247V	SELENBP1_ENST00000447402.3_Missense_Mutation_p.G185V|SELENBP1_ENST00000435071.1_Missense_Mutation_p.G183V|SELENBP1_ENST00000473693.1_5'Flank|SELENBP1_ENST00000426705.2_Missense_Mutation_p.G289V	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	247					protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGGAATAAGCCCATCTTTTAG	0.577																																						ENST00000435071.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20						c.(547-549)gGg>gTg		selenium binding protein 1							123	127	126					1																	151338854		2203	4300	6503	SO:0001583	missense	8991				protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding	g.chr1:151338854C>A	U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.740G>T	1.37:g.151338854C>A	ENSP00000357861:p.Gly247Val					SELENBP1_ENST00000447402.3_Missense_Mutation_p.G185V|SELENBP1_ENST00000368868.5_Missense_Mutation_p.G247V|SELENBP1_ENST00000426705.2_Missense_Mutation_p.G289V	p.G183V			Q13228	SBP1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		7	1010	-	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		247					A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Missense_Mutation	SNP	ENST00000368868.5	37	c.548G>T	CCDS995.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.54|16.54	3.151940|3.151940	0.57151|0.57151	.|.	.|.	ENSG00000143416|ENSG00000143416	ENST00000424475|ENST00000368868;ENST00000447402;ENST00000435071;ENST00000458566;ENST00000426705	T|T;T;T;T;T	0.32515|0.30981	1.45|1.51;1.51;1.51;2.51;2.51	4.32|4.32	4.32|4.32	0.51571|0.51571	.|WD40/YVTN repeat-like-containing domain (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.54046|0.54046	0.1834|0.1834	M|M	0.92833|0.92833	3.35|3.35	0.80722|0.80722	D|D	1|1	.|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	.|1.0;0.999;1.0;1.0;0.999;1.0;0.998;1.0	T|T	0.63821|0.63821	-0.6550|-0.6550	8|10	0.87932|0.72032	D|D	0|0.01	-10.7074|-10.7074	10.1484|10.1484	0.42778|0.42778	0.0:0.9024:0.0:0.0976|0.0:0.9024:0.0:0.0976	.|.	.|185;289;207;231;183;100;183;247	.|B4E1F3;A6PVW9;A6PVW8;A6PVX1;Q9H8A8;B4DPI7;Q13228-2;Q13228	.|.;.;.;.;.;.;.;SBP1_HUMAN	C|V	208|247;185;183;231;289	ENSP00000396209:G208C|ENSP00000357861:G247V;ENSP00000413960:G185V;ENSP00000408263:G183V;ENSP00000406222:G231V;ENSP00000397261:G289V	ENSP00000396209:G208C|ENSP00000357861:G247V	G|G	-|-	1|2	0|0	SELENBP1|SELENBP1	149605478|149605478	0.996000|0.996000	0.38824|0.38824	0.963000|0.963000	0.40424|0.40424	0.414000|0.414000	0.31173|0.31173	3.514000|3.514000	0.53422|0.53422	2.239000|2.239000	0.73571|0.73571	0.407000|0.407000	0.27541|0.27541	GGC|GGG		0.577	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034904.4			14	169	1	0	4.36969e-10	1	5.30605e-10	14	169					A	151338854	C	A	151338854	3	1	265	1	0	0	0	0	1	0	0	0	14014	623	22	4	702	4	SELENBP1	1	151338854	Missense_Mutation	SNP	C	TCGA-EL-A4K7-01A-11D-A257-08	73575447	151338854	97911767	4	5658											
WDR35	57539	broad.mit.edu	37	chr2	20132099	20132099	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctttccgatagagttctAtggcatcaagagttttattc	9	7	2	2			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr2:20132099A>G	ENST00000345530.3	-	24	2916	c.2801T>C	c.(2800-2802)aTa>aCa	p.I934T	WDR35_ENST00000281405.4_Missense_Mutation_p.I923T|WDR35_ENST00000416055.2_Intron	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	934					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATAGAGTTCTATGGCATCAAG	0.333																																						ENST00000345530.3																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(2800-2802)aTa>aCa		WD repeat domain 35							117	115	116					2																	20132099		2202	4299	6501	SO:0001583	missense	57539							g.chr2:20132099A>G	AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"WD repeat domain containing", "Intraflagellar transport homologs"	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.2801T>C	2.37:g.20132099A>G	ENSP00000314444:p.Ile934Thr					WDR35_ENST00000281405.4_Missense_Mutation_p.I923T|WDR35_ENST00000416055.2_Intron	p.I934T	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN			24	2916	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		934					B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	ENST00000345530.3	37	c.2801T>C	CCDS33152.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.333977	0.81801	.	.	ENSG00000118965	ENST00000345530;ENST00000281405	T;T	0.27104	1.69;1.69	5.16	5.16	0.70880	.	0.147759	0.64402	D	0.000014	T	0.38719	0.1051	M	0.81112	2.525	0.80722	D	1	B;P	0.44044	0.374;0.825	B;P	0.45794	0.22;0.493	T	0.29761	-1.0001	10	0.34782	T	0.22	-10.7223	14.4643	0.67472	1.0:0.0:0.0:0.0	.	923;934	Q9P2L0-2;Q9P2L0	.;WDR35_HUMAN	T	934;923	ENSP00000314444:I934T;ENSP00000281405:I923T	ENSP00000281405:I923T	I	-	2	0	WDR35	19995580	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.215000	0.95146	2.084000	0.62774	0.533000	0.62120	ATA		0.333	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		5	84	0	0	0	1	0	5	84					G	20132099	A	G	20132099	3	3	265	1	0	0	0	0	1	0	0	0	17286	449	16	3	764	3	WDR35	2	20132099	Missense_Mutation	SNP	A	TCGA-EL-A4K7-01A-11D-A257-08		20132099	223067274	5	5659											
PUM2	23369	broad.mit.edu	37	chr2	20463041	20463041	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcggttgtttctgaaaTcttccaataatctactgcgg	10	8	3	1			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr2:20463041T>C	ENST00000361078.2	-	13	2160	c.2138A>G	c.(2137-2139)gAt>gGt	p.D713G	PUM2_ENST00000319801.5_Missense_Mutation_p.D634G|PUM2_ENST00000403432.1_Missense_Mutation_p.D713G|PUM2_ENST00000536417.1_Missense_Mutation_p.D657G|PUM2_ENST00000338086.5_Missense_Mutation_p.D713G			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	713	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTTCTGAAATCTTCCAATAA	0.443																																						ENST00000361078.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42						c.(2137-2139)gAt>gGt		pumilio RNA-binding family member 2							66	67	67					2																	20463041		2203	4300	6503	SO:0001583	missense	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20463041T>C	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"pumilio (Drosphila) homolog 2", "pumilio homolog 2 (Drosophila)"			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.2138A>G	2.37:g.20463041T>C	ENSP00000354370:p.Asp713Gly					PUM2_ENST00000319801.5_Missense_Mutation_p.D634G|PUM2_ENST00000338086.5_Missense_Mutation_p.D713G|PUM2_ENST00000403432.1_Missense_Mutation_p.D713G|PUM2_ENST00000536417.1_Missense_Mutation_p.D657G	p.D713G			Q8TB72	PUM2_HUMAN			13	2160	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		713			PUM-HD.		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	37	c.2138A>G		.	.	.	.	.	.	.	.	.	.	T	20.4	3.979347	0.74360	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417	T;T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5;2.5	5.71	5.71	0.89125	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.39226	0.1070	M	0.75264	2.295	0.80722	D	1	B;D;D;D	0.76494	0.246;0.999;0.999;0.998	B;D;D;D	0.85130	0.201;0.992;0.997;0.997	T	0.19386	-1.0307	10	0.62326	D	0.03	-13.327	15.9781	0.80086	0.0:0.0:0.0:1.0	.	657;634;713;713	B4E2B6;B7ZL34;Q8TB72-3;Q8TB72	.;.;.;PUM2_HUMAN	G	713;713;634;525;713;657	ENSP00000338173:D713G;ENSP00000354370:D713G;ENSP00000326746:D634G;ENSP00000409905:D525G;ENSP00000385992:D713G;ENSP00000440093:D657G	ENSP00000326746:D634G	D	-	2	0	PUM2	20326522	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.171000	0.68590	0.533000	0.62120	GAT		0.443	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		8	40	0	0	0	1	0	8	40					C	20463041	T	C	20463041	3	2	265	1	0	0	0	0	1	0	0	0	12826	1435	50	3	1088	3	PUM2	2	20463041	Missense_Mutation	SNP	T	TCGA-EL-A4K7-01A-11D-A257-08	330942	20463041	222736332	6	5660											
FAM128A	653784	broad.mit.edu	37	chr2	132249917	132249917	+	Frame_Shift_Del	DEL	C	C	-													agccccgggggcgccgccgaCcccggcccaggccctacgcc					rs72262008		TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr2:132249917delC	ENST00000309451.6	-	1	78	c.33delG	c.(31-33)gggfs	p.G11fs	MIR4784_ENST00000579560.1_RNA|MZT2A_ENST00000410036.2_Intron|AC093838.4_ENST00000438378.2_RNA	NM_001085365.1	NP_001078834.1	Q6P582	MZT2A_HUMAN	mitotic spindle organizing protein 2A	11						centrosome (GO:0005813)|gamma-tubulin ring complex (GO:0008274)|spindle (GO:0005819)				breast(1)|lung(1)	2						gcgccgccgaccccggcccAG	0.776																																						ENST00000309451.6																			0				breast(1)|lung(1)	2						c.(31-33)ggfs		mitotic spindle organizing protein 2A				406,1854		131,144,855	2	3	3			-0.6	0.0	2	dbSNP_130	3	459,4889		121,217,2336	no	frameshift	MZT2A	NM_001085365.1		252,361,3191	A1A1,A1R,RR		8.5826,17.9646,11.3696			132249917	865,6743	1162	2859	4021	SO:0001589	frameshift_variant	653784					centrosome|gamma-tubulin ring complex|spindle		g.chr2:132249917delC	BC018206	CCDS42758.1	2q21.1	2013-10-11	2010-07-22	2010-07-22	ENSG00000173272	ENSG00000173272			33187	protein-coding gene	gene with protein product	"mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2A"	613449	"family with sequence similarity 128, member A"	FAM128A		20360068	Standard	NM_001085365		Approved	MOZART2A	uc002tsw.4	Q6P582	OTTHUMG00000153606	ENST00000309451.6:c.33delG	2.37:g.132249917delC	ENSP00000311500:p.Gly11fs					MZT2A_ENST00000410036.2_Intron	p.G11fs	NM_001085365.1	NP_001078834.1	Q6P582	MZT2A_HUMAN			1	78	-			11					Q3SWV8|Q8WVB2	Frame_Shift_Del	DEL	ENST00000309451.6	37	c.33delG	CCDS42758.1																																																																																				0.776	MZT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331811.2			2	4						2	4	---	---	---	---	-	132249917	C	-	132249917	7	5	265	1	0	1	0	1	0	0	0	0	5434	494	18	0	455	0	FAM128A	2	132249917	Frame_Shift_Del	DEL	C	TCGA-EL-A4K7-01A-11D-A257-08	111786876	132249917	110949456	7	5661											
DARS	1615	broad.mit.edu	37	chr2	136700980	136700980	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taactcaacgtcttgctgtgTacagcttccaattttctgat	6	10	3	1			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr2:136700980T>C	ENST00000264161.4	-	5	606	c.391A>G	c.(391-393)Aca>Gca	p.T131A	DARS_ENST00000463008.1_5'UTR|DARS_ENST00000537273.1_Missense_Mutation_p.T31A	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	131					aspartyl-tRNA aminoacylation (GO:0006422)|gene expression (GO:0010467)|protein complex assembly (GO:0006461)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacylase activity (GO:0004046)|aspartate-tRNA ligase activity (GO:0004815)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	TCTTGCTGTGTACAGCTTCCA	0.333																																						ENST00000264161.4																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15						c.(391-393)Aca>Gca		aspartyl-tRNA synthetase	L-Aspartic Acid(DB00128)						208	199	202					2																	136700980		2203	4299	6502	SO:0001583	missense	1615				aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding	g.chr2:136700980T>C	J05032	CCDS2180.1	2q21.3	2011-07-01			ENSG00000115866	ENSG00000115866	6.1.1.12	"Aminoacyl tRNA synthetases / Class II"	2678	protein-coding gene	gene with protein product	"aspartate tRNA ligase 1, cytoplasmic"	603084				2674137	Standard	NM_001349		Approved		uc002tux.1	P14868	OTTHUMG00000131741	ENST00000264161.4:c.391A>G	2.37:g.136700980T>C	ENSP00000264161:p.Thr131Ala					DARS_ENST00000537273.1_Missense_Mutation_p.T31A|DARS_ENST00000463008.1_5'UTR	p.T131A	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.168)	5	606	-			131					A8K3J2|D3DP77|Q2TNI3|Q32Q69|Q53HV4|Q53YC5|Q68CR9|Q9BW52	Missense_Mutation	SNP	ENST00000264161.4	37	c.391A>G	CCDS2180.1	.	.	.	.	.	.	.	.	.	.	T	15.49	2.848546	0.51164	.	.	ENSG00000115866	ENST00000264161;ENST00000537273;ENST00000441323;ENST00000456565;ENST00000449218	D;T	0.82711	-1.64;-1.26	4.9	3.66	0.41972	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.315788	0.39341	N	0.001382	D	0.84023	0.5381	M	0.83603	2.65	0.58432	D	0.999998	B	0.24882	0.113	B	0.31547	0.132	D	0.85144	0.0982	10	0.87932	D	0	-11.7698	11.2669	0.49116	0.1368:0.0:0.0:0.8632	.	131	P14868	SYDC_HUMAN	A	131;31;98;98;98	ENSP00000264161:T131A;ENSP00000444192:T31A	ENSP00000264161:T131A	T	-	1	0	DARS	136417450	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.922000	0.48860	2.180000	0.69256	0.460000	0.39030	ACA		0.333	DARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254660.5	NM_001349		5	139	0	0	0	1	0	5	139					C	136700980	T	C	136700980	3	2	265	1	0	0	0	0	1	0	0	0	4241	1638	57	3	1162	3	DARS	2	136700980	Missense_Mutation	SNP	T	TCGA-EL-A4K7-01A-11D-A257-08	4451063	136700980	106498393	8	5662											
CCDC80	151887	broad.mit.edu	37	chr3	112358390	112358390	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttgaccgagctgaggacccCtcatctctgatcatctcacg	8	15	4	3			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr3:112358390C>A	ENST00000206423.3	-	2	1316	c.363G>T	c.(361-363)gaG>gaT	p.E121D	CCDC80_ENST00000475181.1_5'UTR|CCDC80_ENST00000439685.2_Missense_Mutation_p.E121D	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	121					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CTGAGGACCCCTCATCTCTGA	0.592																																						ENST00000206423.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						c.(361-363)gaG>gaT		coiled-coil domain containing 80							87	83	84					3																	112358390		2203	4300	6503	SO:0001583	missense	151887							g.chr3:112358390C>A	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"steroid sensitive gene 1"	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.363G>T	3.37:g.112358390C>A	ENSP00000206423:p.Glu121Asp					CCDC80_ENST00000439685.2_Missense_Mutation_p.E121D|CCDC80_ENST00000475181.1_5'UTR	p.E121D	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN			2	1316	-			121					D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	c.363G>T	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.740843	0.49151	.	.	ENSG00000091986	ENST00000206423;ENST00000439685	T;T	0.50548	0.74;0.74	5.35	3.56	0.40772	.	0.118480	0.56097	D	0.000029	T	0.27027	0.0662	N	0.19112	0.55	0.80722	D	1	B;B;B	0.24186	0.099;0.06;0.06	B;B;B	0.22753	0.041;0.018;0.018	T	0.05649	-1.0872	10	0.25106	T	0.35	-34.0782	4.892	0.13731	0.1512:0.6023:0.0:0.2465	.	132;121;121	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	D	121	ENSP00000206423:E121D;ENSP00000411814:E121D	ENSP00000206423:E121D	E	-	3	2	CCDC80	113841080	0.998000	0.40836	1.000000	0.80357	0.777000	0.43975	0.490000	0.22403	0.823000	0.34589	0.650000	0.86243	GAG		0.592	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		4	109	1	0	0.00024832	1	0.000268028	4	109					A	112358390	C	A	112358390	3	1	265	1	0	0	0	0	1	0	0	0	2854	680	24	4	2517	4	CCDC80	3	112358390	Missense_Mutation	SNP	C	TCGA-EL-A4K7-01A-11D-A257-08		112358390	85664040	9	5663											
BCHE	590	broad.mit.edu	37	chr3	165547492	165547492	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcaaaatagtagaaaaaggCattatttccccattctgaga	6	7	2	2	rs201490686		TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr3:165547492C>A	ENST00000264381.3	-	2	1496	c.1330G>T	c.(1330-1332)Gcc>Tcc	p.A444S	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	444					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	TAGAAAAAGGCATTATTTCCC	0.428																																						ENST00000264381.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55						c.(1330-1332)Gcc>Tcc		butyrylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						101	106	104					3																	165547492		2203	4300	6503	SO:0001583	missense	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165547492C>A	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"cholinesterase 1", "cholinesterase (serum) 2"	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1330G>T	3.37:g.165547492C>A	ENSP00000264381:p.Ala444Ser					BCHE_ENST00000540653.1_Intron	p.A444S	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN			2	1496	-			444					A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.1330G>T	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.361183	0.24684	.	.	ENSG00000114200	ENST00000264381	D	0.95412	-3.7	5.52	2.71	0.32032	Carboxylesterase, type B (1);	0.395769	0.29253	N	0.012698	D	0.93739	0.7999	L	0.38649	1.16	0.09310	N	1	B	0.25563	0.129	B	0.43331	0.416	D	0.88314	0.2958	10	0.87932	D	0	.	7.9983	0.30282	0.0:0.7222:0.132:0.1458	.	444	P06276	CHLE_HUMAN	S	444	ENSP00000264381:A444S	ENSP00000264381:A444S	A	-	1	0	BCHE	167030186	0.000000	0.05858	0.300000	0.25030	0.834000	0.47266	0.819000	0.27308	0.273000	0.22049	0.591000	0.81541	GCC		0.428	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			6	91	1	0	0.0293803	1	0.0302707	6	91					A	165547492	C	A	165547492	3	1	265	1	0	0	0	0	1	0	0	0	1358	710	25	4	490	4	BCHE	3	165547492	Missense_Mutation	SNP	C	TCGA-EL-A4K7-01A-11D-A257-08	53189102	165547492	32474938	10	5664											
ECT2	1894	broad.mit.edu	37	chr3	172502587	172502587	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tacccagtgttgcattacttTtaaatggtacttgtctgatc	7	8	1	1			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr3:172502587T>A	ENST00000392692.3	+	17	1995	c.1819T>A	c.(1819-1821)Tta>Ata	p.L607I	ECT2_ENST00000417960.1_Missense_Mutation_p.L575I|ECT2_ENST00000441497.2_Missense_Mutation_p.L576I|ECT2_ENST00000427830.1_Missense_Mutation_p.L576I|ECT2_ENST00000540509.1_Missense_Mutation_p.L607I|ECT2_ENST00000232458.5_Missense_Mutation_p.L576I	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	607	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TGCATTACTTTTAAATGGTAC	0.343																																						ENST00000417960.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1723-1725)Tta>Ata		epithelial cell transforming sequence 2 oncogene							170	161	164					3																	172502587		2203	4300	6503	SO:0001583	missense	1894				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr3:172502587T>A	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"Rho guanine nucleotide exchange factors"	3155	protein-coding gene	gene with protein product		600586	"epithelial cell transforming sequence 2 oncogene"			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.1819T>A	3.37:g.172502587T>A	ENSP00000376457:p.Leu607Ile					ECT2_ENST00000232458.5_Missense_Mutation_p.L576I|ECT2_ENST00000540509.1_Missense_Mutation_p.L607I|ECT2_ENST00000427830.1_Missense_Mutation_p.L576I|ECT2_ENST00000441497.2_Missense_Mutation_p.L576I|ECT2_ENST00000392692.3_Missense_Mutation_p.L607I	p.L575I	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		17	2200	+	Ovarian(172;0.00197)|Breast(254;0.158)		576			DH.		Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	c.1723T>A	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.615211	0.87359	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509	T;T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37;0.37	5.78	4.65	0.58169	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.67951	0.2948	M	0.77712	2.385	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.998;1.0;0.998;0.997	D;D;D;D;D	0.97110	0.994;0.98;1.0;0.966;0.966	T	0.71213	-0.4659	10	0.87932	D	0	-13.5768	5.6698	0.17715	0.0:0.2371:0.0:0.7629	.	607;52;607;576;575	Q9H8V3;Q96SJ9;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.;.	I	576;607;576;575;576;607	ENSP00000232458:L576I;ENSP00000376457:L607I;ENSP00000401910:L576I;ENSP00000415876:L575I;ENSP00000412259:L576I;ENSP00000443160:L607I	ENSP00000232458:L576I	L	+	1	2	ECT2	173985281	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	1.743000	0.38258	2.210000	0.71456	0.482000	0.46254	TTA		0.343	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		10	95	0	0	0	1	0	10	95					A	172502587	T	A	172502587	3	1	265	1	0	0	0	0	1	0	0	0	4901	1838	64	5	1784	5	ECT2	3	172502587	Missense_Mutation	SNP	T	TCGA-EL-A4K7-01A-11D-A257-08	6955095	172502587	25519843	11	5665											
KIAA0226	9711	broad.mit.edu	37	chr3	197421354	197421354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatctctctatcactgtcttCctcttccacttcctcctcct	2	18	5	0			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr3:197421354C>T	ENST00000296343.5	-	10	1575	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K	KIAA0226_ENST00000389665.5_Missense_Mutation_p.E526K|KIAA0226_ENST00000273582.5_Missense_Mutation_p.E481K	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	526					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TCACTGTCTTCCTCTTCCACT	0.532																																					Esophageal Squamous(3;167 355 3763 15924)	ENST00000273582.5																			0				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1441-1443)Gaa>Aaa		KIAA0226							168	170	169					3																	197421354		2073	4205	6278	SO:0001583	missense	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197421354C>T	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.1576G>A	3.37:g.197421354C>T	ENSP00000296343:p.Glu526Lys					KIAA0226_ENST00000389665.5_Missense_Mutation_p.E526K|KIAA0226_ENST00000296343.5_Missense_Mutation_p.E526K	p.E481K	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	11	1986	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		526					Q96CK5	Missense_Mutation	SNP	ENST00000296343.5	37	c.1441G>A	CCDS43195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.6|25.6	4.650642|4.650642	0.87958|0.87958	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000273582;ENST00000296343;ENST00000389665;ENST00000447048|ENST00000413360	.|.	.|.	.|.	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	0.128592|.	0.53938|.	D|.	0.000059|.	T|T	0.60676|0.60676	0.2287|0.2287	L|L	0.38175|0.38175	1.15|1.15	0.52501|0.52501	D|D	0.999958|0.999958	P;P;P;P|.	0.49559|.	0.925;0.915;0.835;0.839|.	P;P;P;B|.	0.48334|.	0.54;0.574;0.493;0.218|.	T|T	0.56836|0.56836	-0.7913|-0.7913	9|5	0.51188|.	T|.	0.08|.	.|.	18.3225|18.3225	0.90243|0.90243	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	374;526;481;526|.	Q5HYI6;Q92622-3;Q92622-2;Q92622|.	.;.;.;RUBIC_HUMAN|.	K|E	481;526;526;126|487	.|.	ENSP00000273582:E481K|.	E|G	-|-	1|2	0|0	KIAA0226|KIAA0226	198905751|198905751	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.606000|0.606000	0.37113|0.37113	7.316000|7.316000	0.79007|0.79007	2.338000|2.338000	0.79540|0.79540	0.558000|0.558000	0.71614|0.71614	GAA|GGA		0.532	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		5	108	0	0	0	1	0	5	108					T	197421354	C	T	197421354	3	4	265	1	0	0	0	0	1	0	0	0	8162	864	30	2	1386	2	KIAA0226	3	197421354	Missense_Mutation	SNP	C	TCGA-EL-A4K7-01A-11D-A257-08	24918767	197421354	601076	12	5666											
PF4V1	5197	broad.mit.edu	37	chr4	74719560	74719560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaccacctcccaggtccGtcccaggcacatcaccagcc	8	19	1	1			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr4:74719560G>A	ENST00000226524.3	+	2	335	c.161G>A	c.(160-162)cGt>cAt	p.R54H		NM_002620.2	NP_002611.1	P10720	PF4V_HUMAN	platelet factor 4 variant 1	54					cell chemotaxis (GO:0060326)|immune response (GO:0006955)	extracellular space (GO:0005615)	heparin binding (GO:0008201)			endometrium(1)|liver(2)	3	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TCCCAGGTCCGTCCCAGGCAC	0.612																																						ENST00000226524.3																			0				endometrium(1)|liver(2)	3						c.(160-162)cGt>cAt		platelet factor 4 variant 1							54	57	56					4																	74719560		2202	4296	6498	SO:0001583	missense	5197				immune response	extracellular region	chemokine activity|heparin binding	g.chr4:74719560G>A	M26167	CCDS3561.1	4q12-q21	2008-08-15			ENSG00000109272	ENSG00000109272			8862	protein-coding gene	gene with protein product		173461				2725510	Standard	NM_002620		Approved	SCYB4V1, CXCL4V1, CXCL4L1	uc003hhg.1	P10720	OTTHUMG00000130177	ENST00000226524.3:c.161G>A	4.37:g.74719560G>A	ENSP00000226524:p.Arg54His						p.R54H	NM_002620.2	NP_002611.1	P10720	PF4V_HUMAN	all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		2	335	+	Breast(15;0.00102)		54					A1L4S0	Missense_Mutation	SNP	ENST00000226524.3	37	c.161G>A	CCDS3561.1	.	.	.	.	.	.	.	.	.	.	G	0.065	-1.214762	0.01555	.	.	ENSG00000109272	ENST00000226524	T	0.04809	3.55	4.12	-2.56	0.06268	CXC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.631229	0.16266	N	0.222028	T	0.01092	0.0036	N	0.01219	-0.95	0.09310	N	1	B	0.29115	0.233	B	0.22386	0.039	T	0.42531	-0.9446	10	0.02654	T	1	.	5.1238	0.14875	0.4048:0.177:0.4181:0.0	.	54	P10720	PF4V_HUMAN	H	54	ENSP00000226524:R54H	ENSP00000226524:R54H	R	+	2	0	PF4V1	74938424	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.524000	0.06222	-0.447000	0.07138	-1.261000	0.01458	CGT		0.612	PF4V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252495.1			6	38	0	0	0	1	0	6	38					A	74719560	G	A	74719560	3	1	265	1	0	0	0	0	1	0	0	0	11753	1145	40	1	167	1	PF4V1	4	74719560	Missense_Mutation	SNP	G	TCGA-EL-A4K7-01A-11D-A257-08		74719560	116434716	13	5667											
MYOZ2	51778	broad.mit.edu	37	chr4	120072131	120072131	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccaggctatttaagatgCgtcaaagaagatctgacaaa	10	7	2	4			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr4:120072131C>T	ENST00000307128.5	+	3	394	c.181C>T	c.(181-183)Cgt>Tgt	p.R61C		NM_016599.4	NP_057683.1			myozenin 2									p.R61C(1)		endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						ATTTAAGATGCGTCAAAGAAG	0.398																																						ENST00000307128.5																			1	Substitution - Missense(1)	p.R61C(1)	large_intestine(1)	endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(181-183)Cgt>Tgt		myozenin 2							135	126	129					4																	120072131		2203	4300	6503	SO:0001583	missense	51778						protein phosphatase 2B binding	g.chr4:120072131C>T	AF249873	CCDS3711.1	4q26-q27	2014-09-17	2002-01-07	2002-01-11	ENSG00000172399	ENSG00000172399			1330	protein-coding gene	gene with protein product		605602	"chromosome 4 open reading frame 5"	C4orf5		8619474, 9110174	Standard	NM_016599		Approved	CS-1	uc003icp.4	Q9NPC6	OTTHUMG00000132968	ENST00000307128.5:c.181C>T	4.37:g.120072131C>T	ENSP00000306997:p.Arg61Cys						p.R61C	NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN			3	394	+			61						Missense_Mutation	SNP	ENST00000307128.5	37	c.181C>T	CCDS3711.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989295	0.93106	.	.	ENSG00000172399	ENST00000307128	D	0.82619	-1.63	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.92306	0.7559	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92940	0.6371	10	0.87932	D	0	-11.1782	18.7213	0.91694	0.0:1.0:0.0:0.0	.	61	Q9NPC6	MYOZ2_HUMAN	C	61	ENSP00000306997:R61C	ENSP00000306997:R61C	R	+	1	0	MYOZ2	120291579	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.182000	0.65059	2.715000	0.92844	0.650000	0.86243	CGT		0.398	MYOZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256526.2			8	74	0	0	0	1	0	8	74					T	120072131	C	T	120072131	3	4	265	1	0	0	0	0	1	0	0	0	10096	768	27	1	187	1	MYOZ2	4	120072131	Missense_Mutation	SNP	C	TCGA-EL-A4K7-01A-11D-A257-08	45352571	120072131	71082145	14	5668											
SLC38A9	153129	broad.mit.edu	37	chr5	54923735	54923735	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaccttatgatccctcctaTgtttgggtagaaacaggcca	9	10	0	2			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr5:54923735T>C	ENST00000396865.2	-	15	2095	c.1504A>G	c.(1504-1506)Ata>Gta	p.I502V	SLC38A9_ENST00000416547.2_Missense_Mutation_p.I378V|SLC38A9_ENST00000318672.3_Missense_Mutation_p.I502V|SLC38A9_ENST00000515629.1_Missense_Mutation_p.I439V|SLC38A9_ENST00000539768.1_3'UTR|SLC38A9_ENST00000512595.1_Missense_Mutation_p.I439V	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	502					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				ATCCCTCCTATGTTTGGGTAG	0.388																																						ENST00000396865.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8						c.(1504-1506)Ata>Gta		solute carrier family 38, member 9							108	94	99					5																	54923735		2203	4300	6503	SO:0001583	missense	153129				amino acid transport|sodium ion transport	integral to membrane		g.chr5:54923735T>C		CCDS3968.1, CCDS58947.1, CCDS58948.1, CCDS75243.1	5q11.2	2013-05-22			ENSG00000177058	ENSG00000177058		"Solute carriers"	26907	protein-coding gene	gene with protein product							Standard	NM_173514		Approved	FLJ90709	uc003jqf.3	Q8NBW4	OTTHUMG00000131189	ENST00000396865.2:c.1504A>G	5.37:g.54923735T>C	ENSP00000380074:p.Ile502Val					SLC38A9_ENST00000416547.2_Missense_Mutation_p.I378V|SLC38A9_ENST00000512595.1_Missense_Mutation_p.I439V|SLC38A9_ENST00000539768.1_3'UTR|SLC38A9_ENST00000515629.1_Missense_Mutation_p.I439V|SLC38A9_ENST00000318672.3_Missense_Mutation_p.I502V	p.I502V	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN			15	2095	-		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)	502					B3KXV1|B7Z7D0|Q0P5S0|Q6MZJ8	Missense_Mutation	SNP	ENST00000396865.2	37	c.1504A>G	CCDS3968.1	.	.	.	.	.	.	.	.	.	.	T	9.786	1.176664	0.21704	.	.	ENSG00000177058	ENST00000396865;ENST00000318672;ENST00000515629;ENST00000416547;ENST00000512595;ENST00000511233	T;T;T;T;T;T	0.41065	4.3;4.3;4.3;4.3;4.3;1.01	5.48	5.48	0.80851	.	0.130204	0.64402	D	0.000002	T	0.31575	0.0801	N	0.25332	0.735	0.80722	D	1	B;B	0.32409	0.043;0.37	B;B	0.30316	0.045;0.114	T	0.08432	-1.0722	10	0.31617	T	0.26	0.2228	15.8687	0.79091	0.0:0.0:0.0:1.0	.	439;502	B3KXV1;Q8NBW4	.;S38A9_HUMAN	V	502;502;439;378;439;417	ENSP00000380074:I502V;ENSP00000316596:I502V;ENSP00000420934:I439V;ENSP00000397429:I378V;ENSP00000427335:I439V;ENSP00000423219:I417V	ENSP00000316596:I502V	I	-	1	0	SLC38A9	54959492	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.995000	0.70631	2.200000	0.70718	0.460000	0.39030	ATA		0.388	SLC38A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253912.2	NM_173514		7	62	0	0	0	1	0	7	62					C	54923735	T	C	54923735	3	2	265	1	0	0	0	0	1	0	0	0	14611	1464	51	3	189	3	SLC38A9	5	54923735	Missense_Mutation	SNP	T	TCGA-EL-A4K7-01A-11D-A257-08		54923735	125991525	15	5669											
DSP	1832	broad.mit.edu	37	chr6	7585646	7585646	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggcagtgaaagaaaaatgGctcccgtatgaggctggcca	14	8	0	3			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr6:7585646G>A	ENST00000379802.3	+	24	8492	c.8151G>A	c.(8149-8151)tgG>tgA	p.W2717*	DSP_ENST00000418664.2_Nonsense_Mutation_p.W2118*	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2717	4.5 X 38 AA tandem repeats (Domain C).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAGAAAAATGGCTCCCGTATG	0.552																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(8149-8151)tgG>tgA		desmoplakin							119	123	121					6																	7585646		2203	4300	6503	SO:0001587	stop_gained	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7585646G>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.8151G>A	6.37:g.7585646G>A	ENSP00000369129:p.Trp2717*					DSP_ENST00000418664.2_Nonsense_Mutation_p.W2118*	p.W2717*	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	8492	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2717			Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Nonsense_Mutation	SNP	ENST00000379802.3	37	c.8151G>A	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	50	16.761548	0.99871	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	.	.	.	5.62	5.62	0.85841	.	0.100070	0.45867	D	0.000340	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	20.0281	0.97530	0.0:0.0:1.0:0.0	.	.	.	.	X	2717;2118	.	ENSP00000369129:W2717X	W	+	3	0	DSP	7530645	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.823000	0.86660	2.818000	0.97014	0.655000	0.94253	TGG		0.552	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		12	206	0	0	0	1	0	12	206					A	7585646	G	A	7585646	4	1	265	1	0	0	0	0	0	1	0	0	4781	1212	42	2	8245	2	DSP	6	7585646	Nonsense_Mutation	SNP	G	TCGA-EL-A4K7-01A-11D-A257-08		7585646	163529421	16	5670											
USP49	25862	broad.mit.edu	37	chr6	41767589	41767589	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaatcttttaaggtgcagcCggagaacctgaggtagtctg	13	7	2	3			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr6:41767589C>A	ENST00000394253.3	-	5	1978	c.1649G>T	c.(1648-1650)cGg>cTg	p.R550L	USP49_ENST00000297229.2_Missense_Mutation_p.R550L|USP49_ENST00000373006.1_Missense_Mutation_p.R550L|USP49_ENST00000373010.1_Missense_Mutation_p.R550L|USP49_ENST00000373009.3_Missense_Mutation_p.R550L			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	550	USP.				histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AAGGTGCAGCCGGAGAACCTG	0.498																																						ENST00000394253.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23						c.(1648-1650)cGg>cTg		ubiquitin specific peptidase 49							177	162	167					6																	41767589		2203	4300	6503	SO:0001583	missense	25862				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:41767589C>A	AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"Ubiquitin-specific peptidases"	20078	protein-coding gene	gene with protein product			"ubiquitin specific protease 49"			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.1649G>T	6.37:g.41767589C>A	ENSP00000377797:p.Arg550Leu					USP49_ENST00000373006.1_Missense_Mutation_p.R550L|USP49_ENST00000373010.1_Missense_Mutation_p.R550L|USP49_ENST00000297229.2_Missense_Mutation_p.R550L|USP49_ENST00000373009.3_Missense_Mutation_p.R550L	p.R550L			Q70CQ1	UBP49_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		5	1978	-	Ovarian(28;0.0919)|Colorectal(47;0.121)		550					Q5T3D9|Q5T3E0|Q96CK4	Missense_Mutation	SNP	ENST00000394253.3	37	c.1649G>T		.	.	.	.	.	.	.	.	.	.	C	27.5	4.836480	0.91117	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.72505	4.28;4.28;4.28;-0.66;-0.66	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.69806	0.3152	N	0.25332	0.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65010	-0.6272	10	0.21540	T	0.41	-19.1745	19.3678	0.94471	0.0:1.0:0.0:0.0	.	550	Q70CQ1-2	.	L	550	ENSP00000377797:R550L;ENSP00000362101:R550L;ENSP00000362100:R550L;ENSP00000362097:R550L;ENSP00000297229:R550L	ENSP00000297229:R550L	R	-	2	0	USP49	41875567	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.687000	0.91594	0.655000	0.94253	CGG		0.498	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561		6	87	1	0	8.12818e-05	1	9.21194e-05	6	87					A	41767589	C	A	41767589	3	1	265	1	0	0	0	0	1	0	0	0	17077	652	23	4	281	4	USP49	6	41767589	Missense_Mutation	SNP	C	TCGA-EL-A4K7-01A-11D-A257-08	34181943	41767589	129347478	17	5671											
AIM1	202	broad.mit.edu	37	chr6	106975299	106975299	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaggcacgaagaagcagAgtctgataagccagtggtga	15	6	1	4			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr6:106975299A>G	ENST00000369066.3	+	5	3795	c.3308A>G	c.(3307-3309)gAg>gGg	p.E1103G		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GAAGAAGCAGAGTCTGATAAG	0.408																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(3307-3309)gAg>gGg		absent in melanoma 1							249	238	242					6																	106975299		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106975299A>G	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"suppression of tumorigenicity 4", "beta-gamma crystallin domain containing 1"	601797	"suppression of tumorigenicity 4 (malignant melanoma)"	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.3308A>G	6.37:g.106975299A>G	ENSP00000358062:p.Glu1103Gly						p.E1103G	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	5	3795	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	1103			Beta/gamma crystallin 'Greek key' 2.		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.3308A>G	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	A	7.484	0.649343	0.14516	.	.	ENSG00000112297	ENST00000369066	T	0.73047	-0.71	5.29	1.17	0.20885	Beta/gamma crystallin (2);Gamma-crystallin-related (1);	1.155210	0.06117	N	0.668165	T	0.36166	0.0957	L	0.38838	1.175	0.09310	N	0.999999	B	0.17465	0.022	B	0.15870	0.014	T	0.25572	-1.0128	10	0.46703	T	0.11	.	2.88	0.05644	0.4829:0.1153:0.0666:0.3352	.	1103	Q9Y4K1	AIM1_HUMAN	G	1103	ENSP00000358062:E1103G	ENSP00000358062:E1103G	E	+	2	0	AIM1	107081992	0.018000	0.18449	0.403000	0.26384	0.129000	0.20672	0.782000	0.26788	0.378000	0.24764	0.528000	0.53228	GAG		0.408	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			6	224	0	0	0	1	0	6	224					G	106975299	A	G	106975299	3	3	265	1	0	0	0	0	1	0	0	0	430	304	11	3	3326	3	AIM1	6	106975299	Missense_Mutation	SNP	A	TCGA-EL-A4K7-01A-11D-A257-08	65207710	106975299	64139768	18	5672											
LRRC17	10234	broad.mit.edu	37	chr7	102584658	102584658	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatattttctgtttccagcCgcttttttagggctcacaca	6	10	2	0	rs149961330		TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr7:102584658C>T	ENST00000339431.4	+	4	1225	c.930C>T	c.(928-930)gcC>gcT	p.A310A	FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000379306.3_Intron|LRRC17_ENST00000485478.1_3'UTR|LRRC17_ENST00000249377.4_3'UTR|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379308.3_Intron	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	310					bone marrow development (GO:0048539)|negative regulation of osteoclast differentiation (GO:0045671)|ossification (GO:0001503)	extracellular space (GO:0005615)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						TGTTTCCAGCCGCTTTTTTAG	0.313																																						ENST00000339431.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.e4-1		leucine rich repeat containing 17		C	,,,	0,4274		0,0,2137	62	68	66		930,,,	4.8	1.0	7	dbSNP_134	66	1,8569		0,1,4284	no	coding-synonymous-near-splice,intron,utr-3,intron	LRRC17,FBXL13	NM_001031692.2,NM_001111038.1,NM_005824.2,NM_145032.3	,,,	0,1,6421	TT,TC,CC		0.0117,0.0,0.0078	,,,	310/442,,,	102584658	1,12843	2137	4285	6422	SO:0001630	splice_region_variant	10234				bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space		g.chr7:102584658C>T	U32907	CCDS5727.1, CCDS34721.1	7q22.1	2009-05-26			ENSG00000128606	ENSG00000128606			16895	protein-coding gene	gene with protein product						8982252, 19336404	Standard	NM_005824		Approved	P37NB, H_RG318M05.3	uc003vau.3	Q8N6Y2	OTTHUMG00000157210	ENST00000339431.4:c.929-1C>T	7.37:g.102584658C>T						LRRC17_ENST00000485478.1_3'UTR|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000456695.1_Intron|LRRC17_ENST00000249377.4_3'UTR|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000313221.4_Intron	p.A310_splice	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN			4	1225	+			310					Q13288|Q6UWA7|Q75MG5	Splice_Site	SNP	ENST00000339431.4	37	c.928_splice	CCDS34721.1																																																																																				0.313	LRRC17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347930.1	NM_005824	Silent	7	96	0	0	0	1	0	7	96					T	102584658	C	T	102584658	5	4	265	1	0	0	0	0	0	0	1	0	8973	666	23	1	958	1	LRRC17	7	102584658	Splice_Site	SNP	C	TCGA-EL-A4K7-01A-11D-A257-08		102584658	56554005	19	5673											
FLNC	2318	broad.mit.edu	37	chr7	128478662	128478662	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctgttttcggcaggggccGgcactggcgatgttgctgtg	16	10	1	0			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr7:128478662G>T	ENST00000325888.8	+	8	1477	c.1216G>T	c.(1216-1218)Ggc>Tgc	p.G406C	FLNC_ENST00000346177.6_Missense_Mutation_p.G406C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	406					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGCAGGGGCCGGCACTGGCGA	0.667																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(1216-1218)Ggc>Tgc		filamin C, gamma							61	74	69					7																	128478662		2155	4246	6401	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128478662G>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.1216G>T	7.37:g.128478662G>T	ENSP00000327145:p.Gly406Cys					FLNC_ENST00000346177.6_Missense_Mutation_p.G406C	p.G406C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			8	1477	+			406					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.1216G>T	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744129	0.69418	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.72282	-0.64;-0.64	5.53	5.53	0.82687	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90202	0.6937	H	0.97491	4.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93425	0.6780	10	0.87932	D	0	.	18.0334	0.89292	0.0:0.0:1.0:0.0	.	406;406	Q14315-2;Q14315	.;FLNC_HUMAN	C	406	ENSP00000327145:G406C;ENSP00000344002:G406C	ENSP00000327145:G406C	G	+	1	0	FLNC	128265898	1.000000	0.71417	0.986000	0.45419	0.187000	0.23431	7.994000	0.88315	2.590000	0.87494	0.561000	0.74099	GGC		0.667	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			6	155	1	0	0.000157383	1	0.000172614	6	155					T	128478662	G	T	128478662	3	4	265	1	0	0	0	0	1	0	0	0	5935	1116	39	4	1246	4	FLNC	7	128478662	Missense_Mutation	SNP	G	TCGA-EL-A4K7-01A-11D-A257-08	25894004	128478662	30660001	20	5674											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		30	52	0	0	0	1	0	30	52					T	140453136	A	T	140453136	3	4	265	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A4K7-01A-11D-A257-08	11974474	140453136	18685527	21	5675											
NOBOX	135935	broad.mit.edu	37	chr7	144098189	144098189	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	taatttggcaggtcacttccGggggcccctgcttgtggtct	13	11	2	0			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr7:144098189G>C	ENST00000467773.1	-	4	793	c.794C>G	c.(793-795)cCg>cGg	p.P265R	NOBOX_ENST00000483238.1_Missense_Mutation_p.P265R|NOBOX_ENST00000223140.5_Missense_Mutation_p.P180R	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	265					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GGTCACTTCCGGGGGCCCCTG	0.577																																						ENST00000467773.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26						c.(793-795)cCg>cGg		NOBOX oogenesis homeobox							63	62	62					7																	144098189		1840	4082	5922	SO:0001583	missense	135935				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	g.chr7:144098189G>C			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"Homeoboxes / PRD class"	22448	protein-coding gene	gene with protein product	"newborn ovary homeobox-encoding gene"	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.794C>G	7.37:g.144098189G>C	ENSP00000419457:p.Pro265Arg					NOBOX_ENST00000223140.5_Missense_Mutation_p.P180R|NOBOX_ENST00000483238.1_Missense_Mutation_p.P265R	p.P265R	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN			4	793	-	Melanoma(164;0.14)		265					A6NCD3|A8MZN5	Missense_Mutation	SNP	ENST00000467773.1	37	c.794C>G		.	.	.	.	.	.	.	.	.	.	G	7.412	0.635000	0.14322	.	.	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140;ENST00000555556	D;D;D	0.95656	-3.77;-3.77;-3.77	5.13	2.14	0.27477	.	0.450854	0.24070	N	0.041828	D	0.92861	0.7729	L	0.57536	1.79	0.09310	N	1	P	0.49783	0.928	P	0.46172	0.506	D	0.85151	0.0986	10	0.26408	T	0.33	-5.3765	6.4122	0.21698	0.3361:0.0:0.6639:0.0	.	265	O60393	NOBOX_HUMAN	R	265;265;180;54	ENSP00000419565:P265R;ENSP00000419457:P265R;ENSP00000223140:P180R	ENSP00000223140:P180R	P	-	2	0	NOBOX	143729122	0.057000	0.20700	0.005000	0.12908	0.505000	0.33919	0.082000	0.14847	0.240000	0.21263	0.555000	0.69702	CCG		0.577	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420		8	32	0	0	0	1	0	8	32					C	144098189	G	C	144098189	3	2	265	1	0	0	0	0	1	0	0	0	10512	1116	39	4	1213	4	NOBOX	7	144098189	Missense_Mutation	SNP	G	TCGA-EL-A4K7-01A-11D-A257-08	3645053	144098189	15040474	22	5676											
KCNU1	157855	broad.mit.edu	37	chr8	36780118	36780118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacgggcactgttttttccGgcagcttcttggattctctg	10	11	2	0	rs202006761		TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr8:36780118G>A	ENST00000399881.3	+	24	2744	c.2707G>A	c.(2707-2709)Ggc>Agc	p.G903S		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	903	Segment S10.				multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGTTTTTTCCGGCAGCTTCTT	0.493																																						ENST00000399881.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(2707-2709)Ggc>Agc		potassium channel, subfamily U, member 1							93	92	92					8																	36780118		1873	4118	5991	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36780118G>A	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2707G>A	8.37:g.36780118G>A	ENSP00000382770:p.Gly903Ser						p.G903S	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	24	2744	+			903			Segment S10.			Missense_Mutation	SNP	ENST00000399881.3	37	c.2707G>A	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	G	1.888	-0.456214	0.04540	.	.	ENSG00000215262	ENST00000399881	T	0.37235	1.21	5.42	3.56	0.40772	.	0.460512	0.15350	U	0.267040	T	0.20455	0.0492	L	0.31207	0.915	0.09310	N	0.999991	P	0.42456	0.78	B	0.31946	0.138	T	0.07271	-1.0781	10	0.34782	T	0.22	0.165	7.7485	0.28883	0.0836:0.0:0.7559:0.1605	.	903	A8MYU2	KCNU1_HUMAN	S	903	ENSP00000382770:G903S	ENSP00000382770:G903S	G	+	1	0	KCNU1	36899276	0.897000	0.30589	0.249000	0.24280	0.220000	0.24768	2.658000	0.46733	1.294000	0.44707	0.655000	0.94253	GGC		0.493	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		3	43	0	0	0	1	0	3	43					A	36780118	G	A	36780118	3	1	265	1	0	0	0	0	1	0	0	0	8093	1116	39	1	2801	1	KCNU1	8	36780118	Missense_Mutation	SNP	G	TCGA-EL-A4K7-01A-11D-A257-08		36780118	109583904	23	5677											
CSPP1	79848	broad.mit.edu	37	chr8	68030560	68030560	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccttatgatgatgcatactAtttttatgggtccaggaata	8	6	0	2			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr8:68030560A>G	ENST00000262210.5	+	12	1590	c.1559A>G	c.(1558-1560)tAt>tGt	p.Y520C	CSPP1_ENST00000412460.1_Missense_Mutation_p.Y226C	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	555	Pro-rich.				positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GATGCATACTATTTTTATGGG	0.408																																						ENST00000262210.5																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49						c.(1558-1560)tAt>tGt		centrosome and spindle pole associated protein 1							165	154	157					8																	68030560		1891	4098	5989	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68030560A>G	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.1559A>G	8.37:g.68030560A>G	ENSP00000262210:p.Tyr520Cys					CSPP1_ENST00000412460.1_Missense_Mutation_p.Y226C	p.Y520C	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		12	1590	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	555			Pro-rich.		A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.1559A>G	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.193476	0.78902	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.37915	1.17;1.18;1.18	5.48	5.48	0.80851	.	0.000000	0.56097	D	0.000024	T	0.57755	0.2075	M	0.61703	1.905	0.44188	D	0.997006	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.994;0.988	T	0.60697	-0.7212	10	0.72032	D	0.01	-14.7018	14.8492	0.70284	1.0:0.0:0.0:0.0	.	226;520;555;555	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5;F8W7C3	.;.;CSPP1_HUMAN;.	C	520;555;226;226	ENSP00000262210:Y520C;ENSP00000415782:Y226C;ENSP00000430092:Y226C	ENSP00000262210:Y520C	Y	+	2	0	CSPP1	68193114	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.705000	0.74644	2.214000	0.71695	0.528000	0.53228	TAT		0.408	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		5	120	0	0	0	1	0	5	120					G	68030560	A	G	68030560	3	3	265	1	0	0	0	0	1	0	0	0	3962	449	16	3	1718	3	CSPP1	8	68030560	Missense_Mutation	SNP	A	TCGA-EL-A4K7-01A-11D-A257-08	31250442	68030560	78333462	24	5678											
TOP1MT	116447	broad.mit.edu	37	chr8	144413450	144413450	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtatgggggtgcgaagtacGggcccttgtgctccagctgt	16	10	0	0			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr8:144413450G>A	ENST00000329245.4	-	2	216	c.182C>T	c.(181-183)cCg>cTg	p.P61L	TOP1MT_ENST00000521193.1_5'UTR|TOP1MT_ENST00000519148.1_5'UTR|TOP1MT_ENST00000523676.1_5'UTR	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	61					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	TGCGAAGTACGGGCCCTTGTG	0.612																																						ENST00000329245.4																			0				endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23						c.(181-183)cCg>cTg		topoisomerase (DNA) I, mitochondrial	Irinotecan(DB00762)|Topotecan(DB01030)						142	126	132					8																	144413450		2203	4300	6503	SO:0001583	missense	116447				DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity	g.chr8:144413450G>A	AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.182C>T	8.37:g.144413450G>A	ENSP00000328835:p.Pro61Leu					TOP1MT_ENST00000523676.1_5'UTR|TOP1MT_ENST00000521193.1_5'UTR|TOP1MT_ENST00000519148.1_5'UTR	p.P61L	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		2	216	-	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		61					B7ZAR5|E7ES89|Q86ST4|Q86V82	Missense_Mutation	SNP	ENST00000329245.4	37	c.182C>T	CCDS6400.1	.	.	.	.	.	.	.	.	.	.	g	15.95	2.984896	0.53934	.	.	ENSG00000184428	ENST00000329245;ENST00000518007;ENST00000518760;ENST00000522043	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	3.51	2.61	0.31194	DNA topoisomerase I, DNA binding, mixed alpha/beta motif, eukaryotic-type (1);DNA topoisomerase I, DNA binding, eukaryotic-type (2);	0.152547	0.30085	U	0.010449	T	0.62208	0.2409	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59963	-0.7355	10	0.32370	T	0.25	.	11.6354	0.51200	0.0:0.1817:0.8183:0.0	.	61	Q969P6	TOP1M_HUMAN	L	61;30;87;118	ENSP00000328835:P61L;ENSP00000430209:P30L;ENSP00000428723:P87L;ENSP00000428931:P118L	ENSP00000328835:P61L	P	-	2	0	TOP1MT	144484825	1.000000	0.71417	0.074000	0.20217	0.169000	0.22640	5.170000	0.64990	0.431000	0.26258	0.598000	0.82781	CCG		0.612	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381247.3	NM_052963		5	77	0	0	0	1	0	5	77					A	144413450	G	A	144413450	3	1	265	1	0	0	0	0	1	0	0	0	16361	1116	39	1	1675	1	TOP1MT	8	144413450	Missense_Mutation	SNP	G	TCGA-EL-A4K7-01A-11D-A257-08	76382890	144413450	1950572	25	5679											
SCRIB	23513	broad.mit.edu	37	chr8	144874061	144874061	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccaggcgtcccggggaGgtgctggtctgggggccgag	19	12	2	0	rs530563448		TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr8:144874061G>C	ENST00000320476.3	-	34	4686	c.4680C>G	c.(4678-4680)acC>acG	p.T1560T	SCRIB_ENST00000546337.1_5'Flank|RP11-429J17.8_ENST00000532625.1_RNA|RP11-429J17.8_ENST00000534089.1_RNA|SCRIB_ENST00000356994.2_Silent_p.T1560T|RP11-429J17.8_ENST00000527139.1_RNA|SCRIB_ENST00000377533.3_Silent_p.T1479T	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1560					activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GTCCCGGGGAGGTGCTGGTCT	0.716																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(4678-4680)acC>acG		scribbled planar cell polarity protein							6	8	7					8																	144874061		2080	4118	6198	SO:0001819	synonymous_variant	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144874061G>C	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.4680C>G	8.37:g.144874061G>C						SCRIB_ENST00000320476.3_Silent_p.T1560T|SCRIB_ENST00000377533.3_Silent_p.T1479T	p.T1560T	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		34	4686	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1560					Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	ENST00000320476.3	37	c.4680C>G	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	G	8.420	0.846102	0.16963	.	.	ENSG00000180900	ENST00000526832	.	.	.	4.46	3.56	0.40772	.	.	.	.	.	T	0.59985	0.2234	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57359	-0.7825	4	.	.	.	.	9.8012	0.40766	0.1612:0.0:0.8388:0.0	.	.	.	.	V	580	.	.	L	-	1	0	SCRIB	144946049	0.995000	0.38212	1.000000	0.80357	0.992000	0.81027	1.071000	0.30666	2.206000	0.71126	0.556000	0.70494	CTC		0.716	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		3	11	0	0	0	1	0	3	11					C	144874061	G	C	144874061	2	2	265	1	0	0	0	0	0	0	0	1	13937	987	35	4		4	SCRIB	8	144874061	Silent	SNP	G	TCGA-EL-A4K7-01A-11D-A257-08	460611	144874061	1489961	26	5680											
AGPAT2	10555	broad.mit.edu	37	chr9	139571468	139571468	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcactgtcatggcagtgctaGagcgctgccggttgatgaag	14	9	2	3			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr9:139571468G>C	ENST00000371696.2	-	3	502	c.437C>G	c.(436-438)tCt>tGt	p.S146C	AGPAT2_ENST00000371694.3_Missense_Mutation_p.S146C|AGPAT2_ENST00000538402.1_Missense_Mutation_p.S146C	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	146					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)		GGCAGTGCTAGAGCGCTGCCG	0.672																																						ENST00000371696.2																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6						c.(436-438)tCt>tGt		1-acylglycerol-3-phosphate O-acyltransferase 2							69	76	74					9																	139571468		2203	4300	6503	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.chr9:139571468G>C	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.437C>G	9.37:g.139571468G>C	ENSP00000360761:p.Ser146Cys					AGPAT2_ENST00000371694.3_Missense_Mutation_p.S146C|AGPAT2_ENST00000538402.1_Missense_Mutation_p.S146C	p.S146C	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)	3	502	-	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)	146					O00516|O15106|Q5VUD3|Q5VUD4|Q9BSV7|Q9BWR7	Missense_Mutation	SNP	ENST00000371696.2	37	c.437C>G	CCDS7003.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.487340	0.63962	.	.	ENSG00000169692	ENST00000371694;ENST00000371696;ENST00000538402	D;D;D	0.93953	-3.32;-3.32;-3.32	4.86	3.95	0.45737	Phospholipid/glycerol acyltransferase (2);1-acyl-sn-glycerol-3-phosphate acyltransferase (1);	0.108901	0.64402	D	0.000009	D	0.96147	0.8744	M	0.86502	2.82	0.34189	D	0.671842	D;D	0.62365	0.991;0.987	P;P	0.58520	0.753;0.84	D	0.99655	1.0992	10	0.59425	D	0.04	-21.8683	14.2012	0.65705	0.0:0.1508:0.8492:0.0	.	146;146	O15120-2;O15120	.;PLCB_HUMAN	C	146	ENSP00000360759:S146C;ENSP00000360761:S146C;ENSP00000438919:S146C	ENSP00000360759:S146C	S	-	2	0	AGPAT2	138691289	1.000000	0.71417	0.231000	0.23993	0.554000	0.35429	8.599000	0.90856	1.018000	0.39521	0.563000	0.77884	TCT		0.672	AGPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055090.1	NM_006412		18	125	0	0	0	1	0	18	125					C	139571468	G	C	139571468	3	2	265	1	0	0	0	0	1	0	0	0	387	942	33	4	415	4	AGPAT2	9	139571468	Missense_Mutation	SNP	G	TCGA-EL-A4K7-01A-11D-A257-08		139571468	1641963	27	5681											
ANUBL1	93550	broad.mit.edu	37	chr10	46122478	46122478	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacccttaacaatcggtggcGagatggtgcagtggaaccac	13	10	0	1			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr10:46122478G>A	ENST00000344646.5	-	7	1008	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C	ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374366.3_Missense_Mutation_p.R191C	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	265							zinc ion binding (GO:0008270)										AATCGGTGGCGAGATGGTGCA	0.463																																						ENST00000374366.3																			0											c.(571-573)Cgc>Tgc		zinc finger, AN1-type domain 4							76	69	72					10																	46122478		2203	4300	6503	SO:0001583	missense	93550						zinc ion binding	g.chr10:46122478G>A	AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"Zinc fingers, AN1-type domain containing"	23504	protein-coding gene	gene with protein product			"AN1, ubiquitin-like, homolog (Xenopus laevis)"	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.793C>T	10.37:g.46122478G>A	ENSP00000339484:p.Arg265Cys					ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000344646.5_Missense_Mutation_p.R265C|ZFAND4_ENST00000374371.2_Intron	p.R191C			Q86XD8	ANUB1_HUMAN			8	1036	-			265					A8K8V4|B2RAX2|Q5VVY5	Missense_Mutation	SNP	ENST00000344646.5	37	c.571C>T	CCDS7214.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063492	0.76187	.	.	ENSG00000172671	ENST00000344646;ENST00000374366;ENST00000374370	T;T	0.32988	1.44;1.43	5.47	5.47	0.80525	.	1.633390	0.03814	N	0.266426	T	0.61899	0.2384	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.29181	-1.0020	10	0.62326	D	0.03	-18.4853	16.8259	0.85931	0.0:0.0:1.0:0.0	.	265	Q86XD8	ANUB1_HUMAN	C	265;191;147	ENSP00000339484:R265C;ENSP00000363486:R191C	ENSP00000339484:R265C	R	-	1	0	ANUBL1	45442484	1.000000	0.71417	0.997000	0.53966	0.846000	0.48090	5.903000	0.69877	2.574000	0.86865	0.650000	0.86243	CGC		0.463	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047790.1	NM_174890		4	88	0	0	0	1	0	4	88					A	46122478	G	A	46122478	3	1	265	1	0	0	0	0	1	0	0	0	713	1058	37	1	1406	1	ANUBL1	10	46122478	Missense_Mutation	SNP	G	TCGA-EL-A4K7-01A-11D-A257-08		46122478	89412269	28	5682											
HKDC1	80201	broad.mit.edu	37	chr10	71003048	71003048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggggccttcggggacgacGgggccctggaggacattcgc	20	11	0	0			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr10:71003048G>A	ENST00000354624.5	+	7	935	c.802G>A	c.(802-804)Ggg>Agg	p.G268R	HKDC1_ENST00000395086.2_Missense_Mutation_p.G268R	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	268	Hexokinase type-2 1.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CGGGGACGACGGGGCCCTGGA	0.587																																						ENST00000354624.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(802-804)Ggg>Agg		hexokinase domain containing 1							93	91	92					10																	71003048		2203	4300	6503	SO:0001583	missense	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:71003048G>A		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.802G>A	10.37:g.71003048G>A	ENSP00000346643:p.Gly268Arg					HKDC1_ENST00000395086.2_Missense_Mutation_p.G268R	p.G268R	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN			7	935	+			268					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	c.802G>A	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	G	31	5.079320	0.94050	.	.	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.96716	-4.1;-4.1	5.23	5.23	0.72850	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97629	0.9223	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	P	0.56612	0.802	D	0.98192	1.0463	10	0.87932	D	0	-28.2834	18.982	0.92758	0.0:0.0:1.0:0.0	.	268	Q2TB90	HKDC1_HUMAN	R	268	ENSP00000346643:G268R;ENSP00000378521:G268R	ENSP00000346643:G268R	G	+	1	0	HKDC1	70673054	1.000000	0.71417	0.885000	0.34714	0.751000	0.42716	9.608000	0.98331	2.721000	0.93114	0.655000	0.94253	GGG		0.587	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		5	105	0	0	0	1	0	5	105					A	71003048	G	A	71003048	3	1	265	1	0	0	0	0	1	0	0	0	7193	1116	39	1	828	1	HKDC1	10	71003048	Missense_Mutation	SNP	G	TCGA-EL-A4K7-01A-11D-A257-08	24880570	71003048	64531699	29	5683											
HPX	3263	broad.mit.edu	37	chr11	6452460	6452460	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtgagtgcagcccaggAgactggtcacattctggggt	14	10	3	2			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr11:6452460A>T	ENST00000265983.3	-	10	1470	c.1370T>A	c.(1369-1371)cTc>cAc	p.L457H		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	457					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)		GCAGCCCAGGAGACTGGTCAC	0.527																																						ENST00000265983.3																			0				endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15						c.(1369-1371)cTc>cAc		hemopexin							66	62	63					11																	6452460		2201	4296	6497	SO:0001583	missense	3263				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding	g.chr11:6452460A>T	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.1370T>A	11.37:g.6452460A>T	ENSP00000265983:p.Leu457His						p.L457H	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)	10	1470	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	457					B2R957	Missense_Mutation	SNP	ENST00000265983.3	37	c.1370T>A	CCDS7763.1	.	.	.	.	.	.	.	.	.	.	A	17.90	3.502366	0.64298	.	.	ENSG00000110169	ENST00000265983	T	0.13901	2.55	5.32	5.32	0.75619	Hemopexin/matrixin (2);	0.360189	0.31976	N	0.006780	T	0.36193	0.0958	M	0.78456	2.415	0.35431	D	0.794078	D	0.76494	0.999	D	0.65010	0.931	T	0.53753	-0.8394	10	0.87932	D	0	-51.2992	13.2374	0.59976	1.0:0.0:0.0:0.0	.	457	P02790	HEMO_HUMAN	H	457	ENSP00000265983:L457H	ENSP00000265983:L457H	L	-	2	0	HPX	6409036	1.000000	0.71417	0.991000	0.47740	0.828000	0.46876	4.889000	0.63171	2.032000	0.59987	0.459000	0.35465	CTC		0.527	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257256.1	NM_000613		6	52	0	0	0	1	0	6	52					T	6452460	A	T	6452460	3	4	265	1	0	0	0	0	1	0	0	0	7346	304	11	5	22	5	HPX	11	6452460	Missense_Mutation	SNP	A	TCGA-EL-A4K7-01A-11D-A257-08		6452460	128554056	30	5684											
OR5M3	219482	broad.mit.edu	37	chr11	56237680	56237680	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagcaatgaagaagaaacaCtgtactaaacaaccagcata	7	8	0	4			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr11:56237680C>A	ENST00000312240.2	-	1	334	c.294G>T	c.(292-294)caG>caT	p.Q98H		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AGAAGAAACACTGTACTAAAC	0.368																																						ENST00000312240.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(292-294)caG>caT		olfactory receptor, family 5, subfamily M, member 3							90	85	87					11																	56237680		2201	4295	6496	SO:0001583	missense	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237680C>A	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"GPCR / Class A : Olfactory receptors"	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.294G>T	11.37:g.56237680C>A	ENSP00000312208:p.Gln98His						p.Q98H	NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN			1	334	-	Esophageal squamous(21;0.00448)		98					B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	c.294G>T	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.353557	0.41700	.	.	ENSG00000174937	ENST00000312240	T	0.00472	7.19	5.13	1.17	0.20885	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000441	T	0.02012	0.0063	H	0.97186	3.955	0.19775	N	0.999952	D	0.89917	1.0	D	0.91635	0.999	T	0.21484	-1.0244	10	0.87932	D	0	-7.4145	7.7116	0.28682	0.0:0.5712:0.0:0.4288	.	98	Q8NGP4	OR5M3_HUMAN	H	98	ENSP00000312208:Q98H	ENSP00000312208:Q98H	Q	-	3	2	OR5M3	55994256	0.000000	0.05858	0.875000	0.34327	0.705000	0.40729	-0.952000	0.03881	0.193000	0.20303	0.478000	0.44815	CAG		0.368	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		9	119	1	0	2.17888e-05	1	2.55455e-05	9	119					A	56237680	C	A	56237680	3	1	265	1	0	0	0	0	1	0	0	0	11175	564	20	4	631	4	OR5M3	11	56237680	Missense_Mutation	SNP	C	TCGA-EL-A4K7-01A-11D-A257-08	49785220	56237680	78768836	31	5685											
AHNAK	79026	broad.mit.edu	37	chr11	62300004	62300004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgggcattttcatcttggGcattttcaggttccattctg	10	9	4	0			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr11:62300004G>A	ENST00000378024.4	-	5	2159	c.1885C>T	c.(1885-1887)Ccc>Tcc	p.P629S	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	629					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTCATCTTGGGCATTTTCAGG	0.507																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(1885-1887)Ccc>Tcc		AHNAK nucleoprotein							113	103	106					11																	62300004		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62300004G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.1885C>T	11.37:g.62300004G>A	ENSP00000367263:p.Pro629Ser					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.P629S	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	2159	-		Melanoma(852;0.155)	629					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.1885C>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.397856	0.42512	.	.	ENSG00000124942	ENST00000378024	T	0.05649	3.41	4.59	3.68	0.42216	.	.	.	.	.	T	0.28962	0.0719	M	0.88775	2.98	0.26897	N	0.96718	D	0.76494	0.999	D	0.87578	0.998	T	0.09509	-1.0671	9	0.46703	T	0.11	.	12.2806	0.54760	0.0847:0.0:0.9153:0.0	.	629	Q09666	AHNK_HUMAN	S	629	ENSP00000367263:P629S	ENSP00000367263:P629S	P	-	1	0	AHNAK	62056580	1.000000	0.71417	0.991000	0.47740	0.760000	0.43138	3.940000	0.56599	0.932000	0.37266	0.305000	0.20034	CCC		0.507	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		14	118	0	0	0	1	0	14	118					A	62300004	G	A	62300004	3	1	265	1	0	0	0	0	1	0	0	0	414	1203	42	2	15907	2	AHNAK	11	62300004	Missense_Mutation	SNP	G	TCGA-EL-A4K7-01A-11D-A257-08	6062324	62300004	72706512	32	5686											
PITPNM1	9600	broad.mit.edu	37	chr11	67269981	67269981	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gctcacccactcaccgggttCgggtgtaggggtaggcattc	14	12	2	0			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr11:67269981C>A	ENST00000534749.1	-	2	475	c.287G>T	c.(286-288)cGa>cTa	p.R96L	PITPNM1_ENST00000436757.2_Missense_Mutation_p.R96L|PITPNM1_ENST00000356404.3_Missense_Mutation_p.R96L			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	96					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						TCACCGGGTTCGGGTGTAGGG	0.657																																					GBM(28;144 709 4607 5525)	ENST00000356404.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(286-288)cGa>cTa		phosphatidylinositol transfer protein, membrane-associated 1							65	65	65					11																	67269981		2200	4295	6495	SO:0001583	missense	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67269981C>A	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"PYK2 N-terminal domain-interacting receptor 2", "retinal degeneration B alpha 1"	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.287G>T	11.37:g.67269981C>A	ENSP00000437286:p.Arg96Leu					PITPNM1_ENST00000534749.1_Missense_Mutation_p.R96L|PITPNM1_ENST00000436757.2_Missense_Mutation_p.R96L	p.R96L	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN			3	512	-			96					A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	ENST00000534749.1	37	c.287G>T	CCDS31620.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559089	0.86335	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404;ENST00000533391;ENST00000532703;ENST00000528559	T;T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35;0.35	4.42	4.42	0.53409	START-like domain (1);	0.232300	0.22273	N	0.062240	T	0.70657	0.3249	M	0.70108	2.13	0.40751	D	0.982916	D;D	0.89917	1.0;0.999	D;D	0.87578	0.992;0.998	T	0.75485	-0.3301	10	0.87932	D	0	-11.4298	14.1459	0.65351	0.0:1.0:0.0:0.0	.	96;96	O00562-2;O00562	.;PITM1_HUMAN	L	96	ENSP00000437286:R96L;ENSP00000398787:R96L;ENSP00000348772:R96L;ENSP00000434046:R96L;ENSP00000432977:R96L;ENSP00000434904:R96L	ENSP00000348772:R96L	R	-	2	0	PITPNM1	67026557	0.999000	0.42202	0.952000	0.39060	0.912000	0.54170	7.417000	0.80156	2.170000	0.68504	0.561000	0.74099	CGA		0.657	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		3	57	1	0	0.115264	1	0.115264	3	57					A	67269981	C	A	67269981	3	1	265	1	0	0	0	0	1	0	0	0	11950	884	31	4	3535	4	PITPNM1	11	67269981	Missense_Mutation	SNP	C	TCGA-EL-A4K7-01A-11D-A257-08	4969977	67269981	67736535	33	5687											
C2CD3	26005	broad.mit.edu	37	chr11	73789474	73789474	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtagcaatatgtattcttaTgaatgtggttgtggccagca	12	5	1	1			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr11:73789474T>C	ENST00000334126.7	-	23	4515	c.4289A>G	c.(4288-4290)cAt>cGt	p.H1430R	C2CD3_ENST00000313663.7_Missense_Mutation_p.H1430R			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1430					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TGTATTCTTATGAATGTGGTT	0.478																																						ENST00000334126.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.(4288-4290)cAt>cGt		C2 calcium-dependent domain containing 3							69	64	66					11																	73789474		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73789474T>C	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.4289A>G	11.37:g.73789474T>C	ENSP00000334379:p.His1430Arg					C2CD3_ENST00000313663.7_Missense_Mutation_p.H1430R	p.H1430R			Q4AC94	C2CD3_HUMAN			23	4515	-	Breast(11;4.16e-06)		1430					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.4289A>G		.	.	.	.	.	.	.	.	.	.	T	15.05	2.717931	0.48622	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	T;T;T	0.13778	2.95;2.96;2.56	5.3	4.1	0.47936	.	0.275476	0.41097	D	0.000952	T	0.24890	0.0604	L	0.54323	1.7	0.31757	N	0.63379	D	0.71674	0.998	P	0.62649	0.905	T	0.12142	-1.0559	10	0.49607	T	0.09	-12.9818	7.2391	0.26086	0.0:0.0785:0.1481:0.7734	.	1430	Q4AC94-1	.	R	1430;1430;1411;238	ENSP00000334379:H1430R;ENSP00000323339:H1430R;ENSP00000388750:H238R	ENSP00000323339:H1430R	H	-	2	0	C2CD3	73467122	1.000000	0.71417	1.000000	0.80357	0.549000	0.35272	3.171000	0.50824	2.000000	0.58554	0.533000	0.62120	CAT		0.478	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		8	40	0	0	0	1	0	8	40					C	73789474	T	C	73789474	3	2	265	1	0	0	0	0	1	0	0	0	2154	1464	51	3	1638	3	C2CD3	11	73789474	Missense_Mutation	SNP	T	TCGA-EL-A4K7-01A-11D-A257-08	6519493	73789474	61217042	34	5688											
GRIN2B	2904	broad.mit.edu	37	chr12	14018761	14018761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattatcatagaggagccccCgtggatgcccaggatggggg	15	10	1	1			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr12:14018761C>T	ENST00000609686.1	-	2	591	c.382G>A	c.(382-384)Ggg>Agg	p.G128R		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	128					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|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)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GAGGAGCCCCCGTGGATGCCC	0.537																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(382-384)Ggg>Agg		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						105	120	115					12																	14018761		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:14018761C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.382G>A	12.37:g.14018761C>T	ENSP00000477455:p.Gly128Arg						p.G128R	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			2	591	-			128					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.382G>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.029067	0.93518	.	.	ENSG00000150086	ENST00000279593	D	0.86230	-2.09	5.57	5.57	0.84162	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.94837	0.8332	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95310	0.8411	10	0.87932	D	0	.	19.556	0.95347	0.0:1.0:0.0:0.0	.	128	Q13224	NMDE2_HUMAN	R	128	ENSP00000279593:G128R	ENSP00000279593:G128R	G	-	1	0	GRIN2B	13910028	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.813000	0.86123	2.602000	0.87976	0.563000	0.77884	GGG		0.537	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			12	210	0	0	0	1	0	12	210					T	14018761	C	T	14018761	3	4	265	1	0	0	0	0	1	0	0	0	6780	652	23	1	4120	1	GRIN2B	12	14018761	Missense_Mutation	SNP	C	TCGA-EL-A4K7-01A-11D-A257-08		14018761	119833134	35	5689											
CAND1	55832	broad.mit.edu	37	chr12	67699720	67699721	+	Frame_Shift_Del	DEL	TT	TT	-													ctcttagtgccatgctagacTttttccaagctctggttgtc							TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr12:67699720_67699721delTT	ENST00000545606.1	+	10	2709_2710	c.2272_2273delTT	c.(2272-2274)tttfs	p.F759fs		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	759					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		CATGCTAGACTTTTTCCAAGCT	0.441																																						ENST00000545606.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35						c.(2272-2274)tfs		cullin-associated and neddylation-dissociated 1																																				SO:0001589	frameshift_variant	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67699720_67699721delTT		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"TBP interacting protein"	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.2272_2273delTT	12.37:g.67699722_67699723delTT	ENSP00000442318:p.Phe759fs						p.F759fs	NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	10	2709_2710	+			759					B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Frame_Shift_Del	DEL	ENST00000545606.1	37	c.2272_2273delTT	CCDS8977.1																																																																																				0.441	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		53	96						53	96	---	---	---	---	-	67699721	TT	-	67699720	7	5	265	1	0	1	0	1	0	0	0	0	2615	1609	56	0	2310	0	CAND1	12	67699720	Frame_Shift_Del	DEL	TT	TCGA-EL-A4K7-01A-11D-A257-08	53680959	67699720	66152175	36	5690											
CAND1	55832	broad.mit.edu	37	chr12	67700155	67700155	+	Frame_Shift_Del	DEL	C	C	-													tgcaagaaataactagtcaaCccaaaaggcagtatctttta							TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr12:67700155delC	ENST00000545606.1	+	10	3144	c.2707delC	c.(2707-2709)cccfs	p.P903fs		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	903					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		AACTAGTCAACCCAAAAGGCA	0.413																																						ENST00000545606.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35						c.(2707-2709)ccfs		cullin-associated and neddylation-dissociated 1							85	80	82					12																	67700155		2203	4300	6503	SO:0001589	frameshift_variant	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67700155delC		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"TBP interacting protein"	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.2707delC	12.37:g.67700155delC	ENSP00000442318:p.Pro903fs						p.P903fs	NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	10	3144	+			903					B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Frame_Shift_Del	DEL	ENST00000545606.1	37	c.2707delC	CCDS8977.1																																																																																				0.413	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		7	57						7	57	---	---	---	---	-	67700155	C	-	67700155	7	5	265	1	0	1	0	1	0	0	0	0	2615	507	18	0	2745	0	CAND1	12	67700155	Frame_Shift_Del	DEL	C	TCGA-EL-A4K7-01A-11D-A257-08	435	67700155	66151740	37	5691											
GPR109B	8843	broad.mit.edu	37	chr12	123200861	123200861	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagatgatggctgctgtccAattggagatcttgttcaggg	14	6	2	3	rs202161035	byFrequency	TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr12:123200861A>G	ENST00000528880.2	-	1	578	c.424T>C	c.(424-426)Tgg>Cgg	p.W142R	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	142					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)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Niacin(DB00627)	GCTGCTGTCCAATTGGAGATC	0.542													a|||	48	0.00958466	0	0.0014	5008	,	,		20111	0		0.001	False		,,,				2504	0.047					ENST00000528880.2																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9						c.(424-426)Tgg>Cgg		hydroxycarboxylic acid receptor 3	Mepenzolate(DB04843)|Niacin(DB00627)	A	ARG/TRP	3,4403	6.2+/-15.9	0,3,2200	112	107	109		424	-1.5	0.0	12		109	3,8597	2.2+/-6.3	0,3,4297	no	missense	HCAR3	NM_006018.2	101	0,6,6497	GG,GA,AA		0.0349,0.0681,0.0461	benign	142/388	123200861	6,13000	2203	4300	6503	SO:0001583	missense	8843					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr12:123200861A>G	D10923	CCDS53842.1	12q24.31	2012-08-08	2011-05-30	2011-05-30		ENSG00000255398		"GPCR / Class A : Hydroxy-carboxylic acid receptors"	16824	protein-coding gene	gene with protein product		606039	"G protein-coupled receptor 109B"	GPR109B		7505609, 9205127, 18983141, 21454438	Standard	NM_006018		Approved	HCA3, HM74	uc001ucy.4	P49019		ENST00000528880.2:c.424T>C	12.37:g.123200861A>G	ENSP00000436714:p.Trp142Arg					HCAR1_ENST00000356987.2_Intron	p.W142R	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN			1	578	-			142					A8K4G5|B2R830|E9PI97|Q8NGE4	Missense_Mutation	SNP	ENST00000528880.2	37	c.424T>C	CCDS53842.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.417547	0.00013	6.81E-4	3.49E-4	ENSG00000255398	ENST00000528880	T	0.31247	1.5	3.41	-1.55	0.08558	.	.	.	.	.	T	0.04497	0.0123	N	0.00174	-1.93	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38156	-0.9674	9	0.02654	T	1	.	3.3871	0.07276	0.228:0.0:0.4367:0.3353	.	142	E9PI97	.	R	142	ENSP00000436714:W142R	ENSP00000436714:W142R	W	-	1	0	HCAR3	121766814	0.990000	0.36364	0.005000	0.12908	0.143000	0.21401	0.082000	0.14847	-0.211000	0.10124	-1.392000	0.01152	TGG		0.542	HCAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387549.2	NM_006018		4	111	0	0	0	1	0	4	111					G	123200861	A	G	123200861	3	3	265	1	0	0	0	0	1	0	0	0	6626	130	5	3	743	3	GPR109B	12	123200861	Missense_Mutation	SNP	A	TCGA-EL-A4K7-01A-11D-A257-08	55500706	123200861	10651034	38	5692											
ZNF605	100289635	broad.mit.edu	37	chr12	133502381	133502381	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actacattcaaagggcttttCtccagtatgggttctctgat	8	9	3	1			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr12:133502381C>A	ENST00000360187.4	-	5	1852	c.1504G>T	c.(1504-1506)Gaa>Taa	p.E502*	ZNF605_ENST00000392321.3_Nonsense_Mutation_p.E533*|ZNF605_ENST00000331711.7_5'Flank	NM_183238.3	NP_899061.1	Q86T29	ZN605_HUMAN	zinc finger protein 605	502					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(16)|large_intestine(5)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00227)|all_epithelial(31;0.142)		OV - Ovarian serous cystadenocarcinoma(86;9.24e-09)|Epithelial(86;2.11e-07)|all cancers(50;5.27e-06)		AAGGGCTTTTCTCCAGTATGG	0.433																																						ENST00000360187.4																			0				breast(1)|kidney(16)|large_intestine(5)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(1504-1506)Gaa>Taa		zinc finger protein 605							34	36	35					12																	133502381		2201	4278	6479	SO:0001587	stop_gained	100289635				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:133502381C>A	AL832623	CCDS31938.1, CCDS53850.1	12q24.33	2013-01-08	2009-09-11	2009-09-11		ENSG00000196458		"Zinc fingers, C2H2-type", "-"	28068	protein-coding gene	gene with protein product							Standard	NM_183238		Approved		uc001uli.3	Q86T29		ENST00000360187.4:c.1504G>T	12.37:g.133502381C>A	ENSP00000353314:p.Glu502*					ZNF605_ENST00000392321.3_Nonsense_Mutation_p.E533*	p.E502*	NM_183238.3	NP_899061.1	Q86T29	ZN605_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;9.24e-09)|Epithelial(86;2.11e-07)|all cancers(50;5.27e-06)	5	1852	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00227)|all_epithelial(31;0.142)	502					B3KVG4|D3DXJ0|Q86T91	Nonsense_Mutation	SNP	ENST00000360187.4	37	c.1504G>T	CCDS31938.1	.	.	.	.	.	.	.	.	.	.	C	39	7.608154	0.98387	.	.	ENSG00000196458	ENST00000360187;ENST00000392321	.	.	.	3.96	3.96	0.45880	.	0.000000	0.32918	N	0.005494	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.3338	0.74234	0.0:1.0:0.0:0.0	.	.	.	.	X	502;533	.	ENSP00000353314:E502X	E	-	1	0	ZNF605	132012454	0.975000	0.34042	0.943000	0.38184	0.988000	0.76386	4.404000	0.59735	2.213000	0.71641	0.561000	0.74099	GAA		0.433	ZNF605-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397135.2	NM_183238		5	31	1	0	0.00448238	1	0.00468926	5	31					A	133502381	C	A	133502381	4	1	265	1	0	0	0	0	0	1	0	0	18028	922	32	4	425	4	ZNF605	12	133502381	Nonsense_Mutation	SNP	C	TCGA-EL-A4K7-01A-11D-A257-08	10301520	133502381	349514	39	5693											
UGGT2	55757	broad.mit.edu	37	chr13	96555250	96555250	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcctctagaaatagctgtgTtctcttcatttatttttgat	5	7	3	2			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr13:96555250T>G	ENST00000376747.3	-	21	2430	c.2360A>C	c.(2359-2361)aAc>aCc	p.N787T		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	787					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						AATAGCTGTGTTCTCTTCATT	0.338																																						ENST00000376747.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						c.(2359-2361)aAc>aCc		UDP-glucose glycoprotein glucosyltransferase 2							78	79	79					13																	96555250		2202	4298	6500	SO:0001583	missense	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96555250T>G	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"UDP-glucose:glycoprotein glucosyltransferase 2"	605898	"UDP-glucose ceramide glucosyltransferase-like 2"	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.2360A>C	13.37:g.96555250T>G	ENSP00000365938:p.Asn787Thr						p.N787T	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN			21	2430	-			787					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	c.2360A>C	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	T	13.29	2.193916	0.38707	.	.	ENSG00000102595	ENST00000376747	T	0.08008	3.14	5.66	4.43	0.53597	.	0.047498	0.85682	D	0.000000	T	0.10723	0.0262	M	0.66939	2.045	0.80722	D	1	B	0.15930	0.015	B	0.17433	0.018	T	0.06752	-1.0809	10	0.25751	T	0.34	-10.0978	9.8192	0.40871	0.0:0.1408:0.0:0.8592	.	787	Q9NYU1	UGGG2_HUMAN	T	787	ENSP00000365938:N787T	ENSP00000365938:N787T	N	-	2	0	UGGT2	95353251	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	1.507000	0.35758	0.929000	0.37192	0.528000	0.53228	AAC		0.338	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		7	56	0	0	0	1	0	7	56					G	96555250	T	G	96555250	3	3	265	1	0	0	0	0	1	0	0	0	16939	1725	60	5	2266	5	UGGT2	13	96555250	Missense_Mutation	SNP	T	TCGA-EL-A4K7-01A-11D-A257-08		96555250	18614628	40	5694											
ZNF839	55778	broad.mit.edu	37	chr14	102798009	102798009	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgccatctgaaccagaaaaTggagctcttttgcgatcaga	9	9	3	3	rs562616740		TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr14:102798009T>C	ENST00000558850.1	+	3	1244	c.894T>C	c.(892-894)aaT>aaC	p.N298N	ZNF839_ENST00000442396.2_Silent_p.N414N|ZNF839_ENST00000262236.5_Silent_p.N298N|ZNF839_ENST00000559185.1_Silent_p.N298N	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	298							metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AACCAGAAAATGGAGCTCTTT	0.463																																						ENST00000262236.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(892-894)aaT>aaC		zinc finger protein 839							58	57	57					14																	102798009		1947	4144	6091	SO:0001819	synonymous_variant	55778					intracellular	zinc ion binding	g.chr14:102798009T>C	AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 131"	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.894T>C	14.37:g.102798009T>C						ZNF839_ENST00000559185.1_Silent_p.N298N|ZNF839_ENST00000558850.1_Silent_p.N298N|ZNF839_ENST00000442396.2_Silent_p.N414N	p.N298N	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN			3	1249	+			298					B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Silent	SNP	ENST00000558850.1	37	c.894T>C	CCDS58336.1																																																																																				0.463	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335		3	18	0	0	0	1	0	3	18					C	102798009	T	C	102798009	2	2	265	1	0	0	0	0	0	0	0	1	18185	1461	51	3		3	ZNF839	14	102798009	Silent	SNP	T	TCGA-EL-A4K7-01A-11D-A257-08		102798009	4551531	41	5695											
MYO9A	4649	broad.mit.edu	37	chr15	72324844	72324844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtacttacccaagtacaGtgcctgtttcctggtaattt	8	10	0	0			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr15:72324844G>A	ENST00000356056.5	-	3	1398	c.926C>T	c.(925-927)aCt>aTt	p.T309I	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.T309I|MYO9A_ENST00000564571.1_Missense_Mutation_p.T309I|MYO9A_ENST00000424560.1_Missense_Mutation_p.T309I|RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000566885.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	309	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCCAAGTACAGTGCCTGTTTC	0.358																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(925-927)aCt>aTt		myosin IXA							101	98	99					15																	72324844		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72324844G>A	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.926C>T	15.37:g.72324844G>A	ENSP00000348349:p.Thr309Ile					MYO9A_ENST00000444904.1_Missense_Mutation_p.T309I|MYO9A_ENST00000424560.1_Missense_Mutation_p.T309I|MYO9A_ENST00000566885.1_5'UTR|MYO9A_ENST00000564571.1_Missense_Mutation_p.T309I|MYO9A_ENST00000563542.1_5'UTR|RP11-390D11.1_ENST00000568391.1_RNA	p.T309I	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			3	1398	-			309			Myosin head-like 1.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.926C>T	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.107704	0.37242	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.87809	-2.3;-2.3;-2.3	5.14	5.14	0.70334	Myosin head, motor domain (2);	.	.	.	.	T	0.76962	0.4061	N	0.16098	0.37	0.58432	D	0.999999	B;B;B	0.15473	0.002;0.013;0.007	B;B;B	0.23018	0.008;0.02;0.043	T	0.71404	-0.4603	9	0.07482	T	0.82	.	17.3543	0.87331	0.0:0.0:1.0:0.0	.	309;309;309	B2RTY4-3;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	I	309	ENSP00000348349:T309I;ENSP00000399162:T309I;ENSP00000398250:T309I	ENSP00000261864:T309I	T	-	2	0	MYO9A	70111898	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.226000	0.72277	2.377000	0.81083	0.561000	0.74099	ACT		0.358	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		4	45	0	0	0	1	0	4	45					A	72324844	G	A	72324844	3	1	265	1	0	0	0	0	1	0	0	0	10084	1029	36	2	6880	2	MYO9A	15	72324844	Missense_Mutation	SNP	G	TCGA-EL-A4K7-01A-11D-A257-08		72324844	30206548	42	5696											
ALG1	56052	broad.mit.edu	37	chr16	5134849	5134849	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatgggatgagagctgggtGcagactgtgctccctttggt	16	8	0	2			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr16:5134849G>A	ENST00000262374.5	+	13	1393	c.1362G>A	c.(1360-1362)gtG>gtA	p.V454V	ALG1_ENST00000588623.1_Silent_p.V343V|FAM86A_ENST00000427587.4_3'UTR|FAM86A_ENST00000458008.4_3'UTR|ALG1_ENST00000544428.1_Silent_p.V343V	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	454					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipopolysaccharide biosynthetic process (GO:0009103)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitobiosyldiphosphodolichol beta-mannosyltransferase activity (GO:0004578)|mannosyltransferase activity (GO:0000030)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				AGAGCTGGGTGCAGACTGTGC	0.557																																						ENST00000588623.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1027-1029)gtG>gtA		ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase							23	29	26					16																	5134849		1340	2296	3636	SO:0001819	synonymous_variant	56052				dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity	g.chr16:5134849G>A	AB019038	CCDS10528.1	16p13.3	2013-02-22	2013-02-22		ENSG00000033011	ENSG00000033011	2.4.1.142	"Glycosyltransferase group 1 domain containing"	18294	protein-coding gene	gene with protein product		605907	"asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)", "asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)"			10704531	Standard	NM_019109		Approved	HMT-1, HMAT1	uc002cym.3	Q9BT22	OTTHUMG00000129529	ENST00000262374.5:c.1362G>A	16.37:g.5134849G>A						FAM86A_ENST00000458008.4_3'UTR|FAM86A_ENST00000427587.4_3'UTR|ALG1_ENST00000262374.5_Silent_p.V454V|ALG1_ENST00000544428.1_Silent_p.V343V	p.V343V			Q9BT22	ALG1_HUMAN			14	2129	+		Ovarian(90;0.0164)	454					B4DP08|Q6UVZ9|Q8N5Y4|Q9P2Y2	Silent	SNP	ENST00000262374.5	37	c.1029G>A	CCDS10528.1																																																																																				0.557	ALG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251716.2	NM_019109		15	39	0	0	0	1	0	15	39					A	5134849	G	A	5134849	2	1	265	1	0	0	0	0	0	0	0	1	510	1306	46	2		2	ALG1	16	5134849	Silent	SNP	G	TCGA-EL-A4K7-01A-11D-A257-08		5134849	85219904	43	5697											
CYBA	1535	broad.mit.edu	37	chr16	88709931	88709932	+	Frame_Shift_Del	DEL	CC	CC	-													gcctccgatctgcggccgctCccggggcttgggctcgatgg							TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr16:88709931_88709932delCC	ENST00000261623.3	-	6	555_556	c.417_418delGG	c.(415-420)cgggagfs	p.E140fs		NM_000101.3	NP_000092.2	P13498	CY24A_HUMAN	cytochrome b-245, alpha polypeptide	140	Pro-rich.				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)|cellular response to amino acid stimulus (GO:0071230)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to tumor necrosis factor (GO:0071356)|cytochrome complex assembly (GO:0017004)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|negative regulation of glomerular filtration by angiotensin (GO:0003106)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of cell growth (GO:0030307)|positive regulation of endothelial cell proliferation (GO:0001938)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|response to nutrient levels (GO:0031667)|smooth muscle hypertrophy (GO:0014895)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|secretory granule (GO:0030141)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activity (GO:0016175)			endometrium(1)|liver(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0478)	Dextromethorphan(DB00514)	TGCGGCCGCTCCCGGGGCTTGG	0.762																																						ENST00000261623.3																			0				endometrium(1)|liver(1)	2						c.(415-420)cgagfs		cytochrome b-245, alpha polypeptide																																				SO:0001589	frameshift_variant	1535				cytochrome complex assembly|electron transport chain|hydrogen peroxide biosynthetic process|inflammatory response|innate immune response|respiratory burst|smooth muscle hypertrophy|superoxide anion generation|transport	NADPH oxidase complex|stored secretory granule	electron carrier activity|heme binding|protein heterodimerization activity|SH3 domain binding	g.chr16:88709931_88709932delCC		CCDS32504.1	16q24	2014-09-17				ENSG00000051523		"Cytochrome b genes"	2577	protein-coding gene	gene with protein product	"flavocytochrome b-558 alpha polypeptide"	608508				2243141	Standard	NM_000101		Approved	p22-PHOX	uc002flb.4	P13498		ENST00000261623.3:c.417_418delGG	16.37:g.88709931_88709932delCC	ENSP00000261623:p.Glu140fs						p.RE139fs	NM_000101.3	NP_000092.2	P13498	CY24A_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	6	555_556	-			139			Pro-rich.		Q14090|Q9BR72	Frame_Shift_Del	DEL	ENST00000261623.3	37	c.417_418delGG	CCDS32504.1																																																																																				0.762	CYBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422765.1	NM_000101		2	4						2	4	---	---	---	---	-	88709932	CC	-	88709931	7	5	265	1	0	1	0	1	0	0	0	0	4131	864	30	0	173	0	CYBA	16	88709931	Frame_Shift_Del	DEL	CC	TCGA-EL-A4K7-01A-11D-A257-08	83575082	88709931	1644822	44	5698											
POLR2A	5430	broad.mit.edu	37	chr17	7407048	7407048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatggcagaggagtttcggCtcagtggggaggccttcgac	17	9	1	1			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr17:7407048C>T	ENST00000322644.6	+	19	3577	c.3178C>T	c.(3178-3180)Ctc>Ttc	p.L1060F		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1060					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GGAGTTTCGGCTCAGTGGGGA	0.557																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(3178-3180)Ctc>Ttc		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							74	61	66					17																	7407048		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7407048C>T			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.3178C>T	17.37:g.7407048C>T	ENSP00000314949:p.Leu1060Phe						p.L1060F	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			19	3577	+		Prostate(122;0.173)	1060					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.3178C>T	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	C	33	5.207211	0.95033	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.70869	-0.52	5.91	5.91	0.95273	RNA polymerase Rpb1, domain 6 (1);RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	D	0.89238	0.6658	H	0.95328	3.655	0.80722	D	1	D	0.71674	0.998	D	0.70016	0.967	D	0.91687	0.5363	10	0.87932	D	0	-16.2349	19.07	0.93130	0.0:1.0:0.0:0.0	.	1060	P24928	RPB1_HUMAN	F	1016;1060	ENSP00000314949:L1060F	ENSP00000314949:L1060F	L	+	1	0	SLC35G6	7347772	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.319000	0.65835	2.793000	0.96121	0.655000	0.94253	CTC		0.557	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		3	20	0	0	0	1	0	3	20					T	7407048	C	T	7407048	3	4	265	1	0	0	0	0	1	0	0	0	12214	797	28	2	3252	2	POLR2A	17	7407048	Missense_Mutation	SNP	C	TCGA-EL-A4K7-01A-11D-A257-08		7407048	73788162	45	5699											
DNAH2	146754	broad.mit.edu	37	chr17	7695278	7695278	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctatgtcaccatggtagagaTgacatttgtgttcagcatga	10	7	2	3			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr17:7695278T>A	ENST00000572933.1	+	45	8404	c.6944T>A	c.(6943-6945)aTg>aAg	p.M2315K	DNAH2_ENST00000389173.2_Missense_Mutation_p.M2315K			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2315					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(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATGGTAGAGATGACATTTGTG	0.532																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(6943-6945)aTg>aAg		dynein, axonemal, heavy chain 2							211	189	196					17																	7695278		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7695278T>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.6944T>A	17.37:g.7695278T>A	ENSP00000458355:p.Met2315Lys					DNAH2_ENST00000389173.2_Missense_Mutation_p.M2315K	p.M2315K			Q9P225	DYH2_HUMAN			45	8404	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2315					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.6944T>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	T	8.182	0.794102	0.16327	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.19806	2.12	4.98	4.98	0.66077	.	0.229247	0.36482	N	0.002561	T	0.11793	0.0287	N	0.16266	0.395	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.05886	-1.0858	10	0.05833	T	0.94	.	13.8009	0.63199	0.0:0.0:0.0:1.0	.	2315	Q9P225	DYH2_HUMAN	K	2315	ENSP00000373825:M2315K	ENSP00000353818:M2315K	M	+	2	0	DNAH2	7636003	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	6.887000	0.75616	2.088000	0.63022	0.523000	0.50628	ATG		0.532	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		18	120	0	0	0	1	0	18	120					A	7695278	T	A	7695278	3	1	265	1	0	0	0	0	1	0	0	0	4602	1464	51	5	7118	5	DNAH2	17	7695278	Missense_Mutation	SNP	T	TCGA-EL-A4K7-01A-11D-A257-08	288230	7695278	73499932	46	5700											
KRTAP4-7	100132476	broad.mit.edu	37	chr17	39240504	39240504	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctctgaccagggctgcAgccaagacctctgtcaggag	13	12	3	2	rs11655310	byFrequency	TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr17:39240504A>G	ENST00000391417.4	+	1	46	c.46A>G	c.(46-48)Agc>Ggc	p.S16G		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	16	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		S -> G. {ECO:0000269|PubMed:11279113, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.S16G(2)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						CCAGGGCTGCAGCCAAGACCT	0.607													g|||	3114	0.621805	0.8873	0.6297	5008	,	,		13919	0.3938		0.6153	False		,,,				2504	0.499					ENST00000391417.4																			2	Substitution - Missense(2)	p.S16G(2)	endometrium(2)	NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(46-48)Agc>Ggc		keratin associated protein 4-7							7	16	13					17																	39240504		647	1547	2194	SO:0001583	missense	100132476							g.chr17:39240504A>G	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"Keratin associated proteins"	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.46A>G	17.37:g.39240504A>G	ENSP00000375236:p.Ser16Gly						p.S16G	NM_033061.3	NP_149050.3					1	46	+								A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	c.46A>G	CCDS45673.1	1184	0.5421245421245421	392	0.7967479674796748	210	0.580110497237569	193	0.3374125874125874	389	0.5131926121372031	.	0.007	-1.989467	0.00439	.	.	ENSG00000240871;ENSG00000212722	ENST00000391417;ENST00000377734	T	0.00591	6.35	3.09	2.03	0.26663	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.20773	-1.0265	7	0.02654	T	1	.	3.8452	0.08931	0.1259:0.0:0.4559:0.4182	rs11655310	16	Q9BYR0	KRA47_HUMAN	G	16	ENSP00000375236:S16G	ENSP00000375236:S16G	S	+	1	0	KRTAP4-9;KRTAP4-7	36494030	0.673000	0.27539	0.190000	0.23270	0.015000	0.08874	0.317000	0.19487	0.103000	0.17682	-0.355000	0.07637	AGC		0.607	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			4	53	0	0	0	1	0	4	53					G	39240504	A	G	39240504	3	3	265	1	0	0	0	0	1	0	0	0	8555	188	7	3	48	3	KRTAP4-7	17	39240504	Missense_Mutation	SNP	A	TCGA-EL-A4K7-01A-11D-A257-08	31545226	39240504	41954706	47	5701											
RGS9	8787	broad.mit.edu	37	chr17	63221354	63221354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgcagcgggtccatggccCcccgtgggccctctgtcacc	13	17	2	0			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr17:63221354C>T	ENST00000262406.9	+	18	1709	c.1642C>T	c.(1642-1644)Ccc>Tcc	p.P548S	RGS9_ENST00000443584.3_Missense_Mutation_p.P545S|RGS9_ENST00000449996.3_Missense_Mutation_p.P545S	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	548				GSMAPR -> WSGANP (in Ref. 7; AAC25430). {ECO:0000305}.	dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						GTCCATGGCCCCCCGTGGGCC	0.697																																						ENST00000449996.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						c.(1633-1635)Ccc>Tcc		regulator of G-protein signaling 9							72	81	78					17																	63221354		1982	4150	6132	SO:0001583	missense	8787				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr17:63221354C>T	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"Regulators of G-protein signaling"	10004	protein-coding gene	gene with protein product	"regulator of G protein signalling 9", "regulator of G protein signalling 9L", "regulator of G-protein signaling 9L"	604067	"regulator of G-protein signalling 9"			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1642C>T	17.37:g.63221354C>T	ENSP00000262406:p.Pro548Ser					RGS9_ENST00000262406.9_Missense_Mutation_p.P548S|RGS9_ENST00000443584.3_Missense_Mutation_p.P545S	p.P545S	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN			18	1705	+			548	GSMAPR -> WSGANP (in Ref. 7; AAC25430).				A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	37	c.1633C>T	CCDS42373.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.998466	0.00435	.	.	ENSG00000108370	ENST00000262406;ENST00000449996	T;T	0.27256	1.68;1.68	3.77	-3.61	0.04556	.	2.876290	0.00714	N	0.000853	T	0.10121	0.0248	N	0.08118	0	0.09310	N	1	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.001	T	0.11991	-1.0565	10	0.15066	T	0.55	.	0.5564	0.00671	0.3966:0.1853:0.2181:0.1999	.	548;548;545	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	S	548;545	ENSP00000262406:P548S;ENSP00000396329:P545S	ENSP00000262406:P548S	P	+	1	0	RGS9	60651816	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-0.396000	0.07278	-0.345000	0.08325	0.491000	0.48974	CCC		0.697	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835		6	151	0	0	0	1	0	6	151					T	63221354	C	T	63221354	3	4	265	1	0	0	0	0	1	0	0	0	13313	623	22	2	1767	2	RGS9	17	63221354	Missense_Mutation	SNP	C	TCGA-EL-A4K7-01A-11D-A257-08	23980850	63221354	17973856	48	5702											
LAMA1	284217	broad.mit.edu	37	chr18	7049134	7049134	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggtggctaagggtcatgagAtctgcattgagcgttctaat	13	7	3	2			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr18:7049134A>G	ENST00000389658.3	-	5	804	c.711T>C	c.(709-711)gaT>gaC	p.D237D		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	237	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GGGTCATGAGATCTGCATTGA	0.468																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(709-711)gaT>gaC		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						138	115	123					18																	7049134		2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7049134A>G	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.711T>C	18.37:g.7049134A>G							p.D237D	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			5	804	-		Colorectal(10;0.172)	237			Laminin N-terminal.			Silent	SNP	ENST00000389658.3	37	c.711T>C	CCDS32787.1																																																																																				0.468	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		11	93	0	0	0	1	0	11	93					G	7049134	A	G	7049134	2	3	265	1	0	0	0	0	0	0	0	1	8605	330	12	3		3	LAMA1	18	7049134	Silent	SNP	A	TCGA-EL-A4K7-01A-11D-A257-08		7049134	71028114	49	5703											
TYK2	7297	broad.mit.edu	37	chr19	10476512	10476512	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agacgttccgaaggcgcagcCgggtcagggcgctgtgctgc	17	12	1	1			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr19:10476512C>A	ENST00000525621.1	-	7	1173	c.692G>T	c.(691-693)cGg>cTg	p.R231L	TYK2_ENST00000529370.1_Missense_Mutation_p.R231L|TYK2_ENST00000264818.6_Missense_Mutation_p.R231L|TYK2_ENST00000524462.1_Missense_Mutation_p.R46L	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	231	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.R231Q(1)		breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			AAGGCGCAGCCGGGTCAGGGC	0.647																																						ENST00000525621.1																			1	Substitution - Missense(1)	p.R231Q(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(691-693)cGg>cTg		tyrosine kinase 2							13	14	14					19																	10476512		2181	4268	6449	SO:0001583	missense	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10476512C>A		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.692G>T	19.37:g.10476512C>A	ENSP00000431885:p.Arg231Leu					TYK2_ENST00000524462.1_Missense_Mutation_p.R46L|TYK2_ENST00000264818.6_Missense_Mutation_p.R231L|TYK2_ENST00000529370.1_Missense_Mutation_p.R231L	p.R231L	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		7	1173	-			231			FERM.		Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	c.692G>T	CCDS12236.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.11|13.11	2.140571|2.140571	0.37825|0.37825	.|.	.|.	ENSG00000105397|ENSG00000105397	ENST00000525220|ENST00000524462;ENST00000525621;ENST00000264818;ENST00000529370	.|D;T;T;T	.|0.82711	.|-1.64;0.67;0.67;0.67	4.66|4.66	1.14|1.14	0.20703|0.20703	.|FERM central domain (1);Band 4.1 domain (1);FERM domain (1);	.|0.387908	.|0.18266	.|N	.|0.146463	D|D	0.83769|0.83769	0.5326|0.5326	M|M	0.77616|0.77616	2.38|2.38	0.09310|0.09310	N|N	1|1	.|D;P	.|0.60160	.|0.987;0.792	.|P;P	.|0.53401	.|0.725;0.587	T|T	0.74586|0.74586	-0.3616|-0.3616	5|10	.|0.87932	.|D	.|0	-22.8988|-22.8988	2.5899|2.5899	0.04839|0.04839	0.216:0.4783:0.0:0.3057|0.216:0.4783:0.0:0.3057	.|.	.|231;231	.|E9PPF2;P29597	.|.;TYK2_HUMAN	C|L	10|46;231;231;231	.|ENSP00000433203:R46L;ENSP00000431885:R231L;ENSP00000264818:R231L;ENSP00000432728:R231L	.|ENSP00000264818:R231L	G|R	-|-	1|2	0|0	TYK2|TYK2	10337512|10337512	0.000000|0.000000	0.05858|0.05858	0.161000|0.161000	0.22692|0.22692	0.084000|0.084000	0.17831|0.17831	0.223000|0.223000	0.17719|0.17719	0.563000|0.563000	0.29222|0.29222	0.561000|0.561000	0.74099|0.74099	GGC|CGG		0.647	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			6	25	1	0	0.00116845	1	0.00124147	6	25					A	10476512	C	A	10476512	3	1	265	1	0	0	0	0	1	0	0	0	16807	652	23	4	2947	4	TYK2	19	10476512	Missense_Mutation	SNP	C	TCGA-EL-A4K7-01A-11D-A257-08		10476512	48652471	50	5704											
DNM2	1785	broad.mit.edu	37	chr19	10904502	10904502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgaatcaatcgcatcttcCacgagcggttcccatttgag	8	14	2	1			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr19:10904502C>T	ENST00000355667.6	+	8	1179	c.1099C>T	c.(1099-1101)Cac>Tac	p.H367Y	DNM2_ENST00000389253.4_Missense_Mutation_p.H367Y|DNM2_ENST00000314646.5_Missense_Mutation_p.H367Y|DNM2_ENST00000359692.6_Missense_Mutation_p.H367Y|DNM2_ENST00000408974.4_Missense_Mutation_p.H367Y|DNM2_ENST00000585892.1_Missense_Mutation_p.H367Y	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	367					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)			TCGCATCTTCCACGAGCGGTT	0.632			"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.(1099-1101)Cac>Tac		dynamin 2							88	95	92					19																	10904502		2203	4300	6503	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.chr19:10904502C>T		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.1099C>T	19.37:g.10904502C>T	ENSP00000347890:p.His367Tyr					DNM2_ENST00000389253.4_Missense_Mutation_p.H367Y|DNM2_ENST00000408974.4_Missense_Mutation_p.H367Y|DNM2_ENST00000355667.6_Missense_Mutation_p.H367Y|DNM2_ENST00000359692.6_Missense_Mutation_p.H367Y|DNM2_ENST00000585892.1_Missense_Mutation_p.H367Y	p.H367Y			P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		8	1263	+			367					A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	c.1099C>T	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958455	0.92726	.	.	ENSG00000079805	ENST00000389252;ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646	T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81	4.93	4.93	0.64822	Dynamin central domain (1);	0.050458	0.85682	D	0.000000	D	0.88695	0.6506	M	0.91249	3.19	0.80722	D	1	D;P;B;P;P	0.63046	0.992;0.76;0.399;0.857;0.72	D;B;P;P;B	0.68943	0.961;0.378;0.543;0.616;0.41	D	0.91497	0.5216	10	0.87932	D	0	-1.2259	16.9458	0.86229	0.0:1.0:0.0:0.0	.	100;367;367;367;367	B4DJ53;A8K1B6;P50570-2;P50570;E9PEQ4	.;.;.;DYN2_HUMAN;.	Y	356;367;367;367;367;367	ENSP00000386192:H367Y;ENSP00000347890:H367Y;ENSP00000352721:H367Y;ENSP00000373905:H367Y;ENSP00000313164:H367Y	ENSP00000313164:H367Y	H	+	1	0	DNM2	10765502	1.000000	0.71417	0.996000	0.52242	0.960000	0.62799	7.818000	0.86416	2.274000	0.75844	0.655000	0.94253	CAC		0.632	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		4	116	0	0	0	1	0	4	116					T	10904502	C	T	10904502	3	4	265	1	0	0	0	0	1	0	0	0	4672	594	21	2	1129	2	DNM2	19	10904502	Missense_Mutation	SNP	C	TCGA-EL-A4K7-01A-11D-A257-08	427990	10904502	48224481	51	5705											
HCST	10870	broad.mit.edu	37	chr19	36394716	36394716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctctctgccgctcctggCaggcctcgtggctgctgatg	12	16	2	1			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr19:36394716C>T	ENST00000246551.4	+	3	266	c.152C>T	c.(151-153)gCa>gTa	p.A51V	NFKBID_ENST00000352614.2_5'Flank|NFKBID_ENST00000606253.1_5'Flank|HCST_ENST00000437550.2_Missense_Mutation_p.A51V			Q9UBK5	HCST_HUMAN	hematopoietic cell signal transducer	51					positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of immune response (GO:0050776)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase binding (GO:0043548)|receptor binding (GO:0005102)			lung(4)	4	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCGCTCCTGGCAGGCCTCGTG	0.687																																						ENST00000246551.4																			0				lung(4)	4						c.(151-153)gCa>gTa		hematopoietic cell signal transducer							33	30	31					19																	36394716		2203	4300	6503	SO:0001583	missense	10870				regulation of immune response	integral to membrane|plasma membrane		g.chr19:36394716C>T	AF072844	CCDS32998.1, CCDS46057.1	19q13.1	2009-05-07	2003-10-14	2003-10-15	ENSG00000126264	ENSG00000126264			16977	protein-coding gene	gene with protein product	"DNAX-activation protein 10", "kinase assoc pro of ~10kDa"	604089	"phosphoinositide-3-kinase adaptor protein"	PIK3AP		10426994	Standard	NM_014266		Approved	DAP10, DKFZP586C1522, KAP10	uc002ocl.1	Q9UBK5	OTTHUMG00000048132	ENST00000246551.4:c.152C>T	19.37:g.36394716C>T	ENSP00000246551:p.Ala51Val					HCST_ENST00000437550.2_Missense_Mutation_p.A51V	p.A51V			Q9UBK5	HCST_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	266	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		51					Q9UBS1|Q9Y3Y0	Missense_Mutation	SNP	ENST00000246551.4	37	c.152C>T	CCDS32998.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705586	0.89018	.	.	ENSG00000126264	ENST00000246551;ENST00000437550	.	.	.	4.55	-0.589	0.11683	.	0.524166	0.16146	N	0.227463	T	0.26376	0.0644	.	.	.	0.09310	N	1	B;B	0.27559	0.181;0.15	B;B	0.20955	0.032;0.019	T	0.14615	-1.0466	8	0.51188	T	0.08	-8.6543	7.3649	0.26768	0.0:0.574:0.0:0.426	.	51;51	Q9UBK5;Q9UBK5-2	HCST_HUMAN;.	V	51	.	ENSP00000246551:A51V	A	+	2	0	HCST	41086556	0.000000	0.05858	0.029000	0.17559	0.897000	0.52465	-1.080000	0.03407	0.091000	0.17302	0.655000	0.94253	GCA		0.687	HCST-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109520.3	NM_014266		8	36	0	0	0	1	0	8	36					T	36394716	C	T	36394716	3	4	265	1	0	0	0	0	1	0	0	0	7003	710	25	2	162	2	HCST	19	36394716	Missense_Mutation	SNP	C	TCGA-EL-A4K7-01A-11D-A257-08	25490214	36394716	22734267	52	5706											
MYADM	91663	broad.mit.edu	37	chr19	54377258	54377258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccgaagtggcctggaccCgggcccggcccggcgagatc	15	17	0	1			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr19:54377258C>T	ENST00000391769.2	+	3	755	c.475C>T	c.(475-477)Cgg>Tgg	p.R159W	MYADM_ENST00000391771.1_Missense_Mutation_p.R159W|MYADM_ENST00000391770.4_Missense_Mutation_p.R159W|MYADM_ENST00000336967.3_Missense_Mutation_p.R159W|MYADM_ENST00000391768.2_Missense_Mutation_p.R159W|AC008440.5_ENST00000413496.2_RNA	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	159	MARVEL 1. {ECO:0000255|PROSITE- ProRule:PRU00581}.				establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		GGCCTGGACCCGGGCCCGGCC	0.652																																						ENST00000391769.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(475-477)Cgg>Tgg		myeloid-associated differentiation marker							45	47	46					19																	54377258		2203	4299	6502	SO:0001583	missense	91663					integral to membrane		g.chr19:54377258C>T	AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820			7544	protein-coding gene	gene with protein product		609959				10733104, 12075932	Standard	NM_001020818		Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.475C>T	19.37:g.54377258C>T	ENSP00000375649:p.Arg159Trp					MYADM_ENST00000391768.2_Missense_Mutation_p.R159W|MYADM_ENST00000391770.4_Missense_Mutation_p.R159W|MYADM_ENST00000391771.1_Missense_Mutation_p.R159W|MYADM_ENST00000336967.3_Missense_Mutation_p.R159W	p.R159W	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN		GBM - Glioblastoma multiforme(134;0.0488)	3	755	+	Ovarian(34;0.19)		159			MARVEL 1.		B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	Missense_Mutation	SNP	ENST00000391769.2	37	c.475C>T	CCDS12866.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326945	0.41197	.	.	ENSG00000179820	ENST00000421337;ENST00000336967;ENST00000391770;ENST00000448420;ENST00000439000;ENST00000391771;ENST00000415619;ENST00000391769;ENST00000391768	.	.	.	4.21	0.568	0.17333	Marvel (1);	0.068332	0.53938	D	0.000042	T	0.52549	0.1741	L	0.36672	1.1	0.45541	D	0.998495	D	0.89917	1.0	D	0.65573	0.936	T	0.46665	-0.9175	9	0.38643	T	0.18	-14.402	5.8374	0.18615	0.2463:0.6254:0.0:0.1283	.	159	Q96S97	MYADM_HUMAN	W	159;159;159;159;159;159;122;159;159	.	ENSP00000337222:R159W	R	+	1	2	MYADM	59069070	1.000000	0.71417	0.861000	0.33841	0.781000	0.44180	0.904000	0.28491	0.374000	0.24650	0.313000	0.20887	CGG		0.652	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134337.1	NM_138373		4	73	0	0	0	1	0	4	73					T	54377258	C	T	54377258	3	4	265	1	0	0	0	0	1	0	0	0	10006	643	23	1	477	1	MYADM	19	54377258	Missense_Mutation	SNP	C	TCGA-EL-A4K7-01A-11D-A257-08	17982542	54377258	4751725	53	5707											
C20orf54	113278	broad.mit.edu	37	chr20	745919	745919	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgatatctcagtgacattgAcgcaggtagtgagaccggag	13	8	1	4			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr20:745919A>G	ENST00000217254.7	-	2	741	c.500T>C	c.(499-501)gTc>gCc	p.V167A	SLC52A3_ENST00000473664.1_5'UTR|SLC52A3_ENST00000381944.3_Missense_Mutation_p.V167A	NM_033409.3	NP_212134.3	Q9NQ40	S52A3_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	167					cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	riboflavin transporter activity (GO:0032217)										AGTGACATTGACGCAGGTAGT	0.597																																						ENST00000381944.3																			0											c.(499-501)gTc>gCc		solute carrier family 52 (riboflavin transporter), member 3							80	76	77					20																	745919		2203	4300	6503	SO:0001583	missense	113278				sensory perception of sound	integral to plasma membrane	riboflavin transporter activity	g.chr20:745919A>G	AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276		"Solute carriers"	16187	protein-coding gene	gene with protein product	"hypothetical protein LOC113278"	613350	"chromosome 20 open reading frame 54"	C20orf54		11780052, 19122205	Standard	NM_033409		Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000217254.7:c.500T>C	20.37:g.745919A>G	ENSP00000217254:p.Val167Ala					SLC52A3_ENST00000473664.1_5'UTR|SLC52A3_ENST00000217254.7_Missense_Mutation_p.V167A	p.V167A			Q9NQ40	RFT2_HUMAN			2	741	-			167					A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	Missense_Mutation	SNP	ENST00000217254.7	37	c.500T>C	CCDS13007.1	.	.	.	.	.	.	.	.	.	.	A	15.51	2.853580	0.51270	.	.	ENSG00000101276	ENST00000217254;ENST00000381944	T;T	0.73681	-0.77;-0.77	5.53	1.91	0.25777	.	0.318910	0.32769	N	0.005667	T	0.54902	0.1887	L	0.37630	1.12	0.50467	D	0.999874	B;B	0.24618	0.107;0.065	B;B	0.18871	0.023;0.007	T	0.35871	-0.9771	10	0.12766	T	0.61	-20.6388	4.9447	0.13984	0.654:0.0:0.2096:0.1364	.	167;167	Q9NQ40-2;Q9NQ40	.;RFT2_HUMAN	A	167	ENSP00000217254:V167A;ENSP00000371370:V167A	ENSP00000217254:V167A	V	-	2	0	C20orf54	693919	0.745000	0.28261	0.396000	0.26296	0.797000	0.45037	1.492000	0.35594	0.951000	0.37770	0.459000	0.35465	GTC		0.597	SLC52A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077482.2	NM_033409		15	70	0	0	0	1	0	15	70					G	745919	A	G	745919	3	3	265	1	0	0	0	0	1	0	0	0	2114	275	10	3	925	3	C20orf54	20	745919	Missense_Mutation	SNP	A	TCGA-EL-A4K7-01A-11D-A257-08		745919	62279601	54	5708											
ZSWIM1	90204	broad.mit.edu	37	chr20	44512067	44512067	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccatctgagaaacaaggtaTggcttctctgttccgttaca	8	11	2	1			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr20:44512067T>C	ENST00000372523.1	+	2	931	c.836T>C	c.(835-837)aTg>aCg	p.M279T	ZSWIM1_ENST00000372520.1_Missense_Mutation_p.M279T	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	279						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				AAACAAGGTATGGCTTCTCTG	0.537																																						ENST00000372523.1																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13						c.(835-837)aTg>aCg		zinc finger, SWIM-type containing 1							116	108	111					20																	44512067		2203	4300	6503	SO:0001583	missense	90204						zinc ion binding	g.chr20:44512067T>C	AL008726	CCDS13382.2	20q13.12	2013-09-20	2003-12-17	2003-12-19	ENSG00000168612	ENSG00000168612		"Zinc fingers, SWIM-type"	16155	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 162"	C20orf162			Standard	NM_080603		Approved	dJ337O18.5	uc010ghi.3	Q9BR11	OTTHUMG00000074023	ENST00000372523.1:c.836T>C	20.37:g.44512067T>C	ENSP00000361601:p.Met279Thr					ZSWIM1_ENST00000372520.1_Missense_Mutation_p.M279T	p.M279T	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN			2	931	+		Myeloproliferative disorder(115;0.028)	279					Q5JZH2|Q9BR12|Q9BV30	Missense_Mutation	SNP	ENST00000372523.1	37	c.836T>C	CCDS13382.2	.	.	.	.	.	.	.	.	.	.	T	10.52	1.372091	0.24857	.	.	ENSG00000168612	ENST00000372523;ENST00000372520	T;T	0.24151	1.87;1.87	5.26	5.26	0.73747	.	0.318212	0.26563	U	0.023661	T	0.20007	0.0481	N	0.24115	0.695	0.18873	N	0.999984	B	0.19817	0.039	B	0.14578	0.011	T	0.19224	-1.0312	10	0.66056	D	0.02	-18.081	15.0151	0.71578	0.0:0.0:0.0:1.0	.	279	Q9BR11	ZSWM1_HUMAN	T	279	ENSP00000361601:M279T;ENSP00000361598:M279T	ENSP00000361598:M279T	M	+	2	0	ZSWIM1	43945474	0.036000	0.19791	0.429000	0.26710	0.921000	0.55340	2.373000	0.44266	2.205000	0.71048	0.528000	0.53228	ATG		0.537	ZSWIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157064.2	NM_080603		4	139	0	0	0	1	0	4	139					C	44512067	T	C	44512067	3	2	265	1	0	0	0	0	1	0	0	0	18237	1464	51	3	838	3	ZSWIM1	20	44512067	Missense_Mutation	SNP	T	TCGA-EL-A4K7-01A-11D-A257-08	43766148	44512067	18513453	55	5709											
CBR1	873	broad.mit.edu	37	chr21	37445106	37445106	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagagacccctgtgtacTtggcccttttgcccccagat	10	14	0	2			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr21:37445106T>G	ENST00000290349.6	+	3	935	c.760T>G	c.(760-762)Ttg>Gtg	p.L254V	SETD4_ENST00000399201.1_Intron|CBR1_ENST00000530908.1_3'UTR|AP000688.14_ENST00000535199.1_RNA	NM_001757.2	NP_001748.1	P16152	CBR1_HUMAN	carbonyl reductase 1	254					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|drug metabolic process (GO:0017144)|epithelial cell differentiation (GO:0030855)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|vitamin K metabolic process (GO:0042373)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	15-hydroxyprostaglandin dehydrogenase (NADP+) activity (GO:0047021)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|prostaglandin-E2 9-reductase activity (GO:0050221)			endometrium(2)|kidney(3)	5					Doxorubicin(DB00997)|Haloperidol(DB00502)|Lubiprostone(DB01046)|Tetrabenazine(DB04844)	CCCTGTGTACTTGGCCCTTTT	0.577																																						ENST00000290349.6																			0				endometrium(2)|kidney(3)	5						c.(760-762)Ttg>Gtg		carbonyl reductase 1	Acetohexamide(DB00414)|Lubiprostone(DB01046)						65	67	66					21																	37445106		2203	4300	6503	SO:0001583	missense	873				drug metabolic process|vitamin K metabolic process	cytoplasm	15-hydroxyprostaglandin dehydrogenase (NADP+) activity|carbonyl reductase (NADPH) activity|prostaglandin-E2 9-reductase activity|protein binding	g.chr21:37445106T>G		CCDS13641.1, CCDS68202.1	21q22.1	2011-09-14			ENSG00000159228	ENSG00000159228	1.1.1.184	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	1548	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 21C, member 1"	114830		CBR		8432528, 19027726	Standard	NM_001757		Approved	SDR21C1	uc002yvb.1	P16152	OTTHUMG00000086618	ENST00000290349.6:c.760T>G	21.37:g.37445106T>G	ENSP00000290349:p.Leu254Val					SETD4_ENST00000399201.1_Intron|AP000688.14_ENST00000535199.1_RNA|CBR1_ENST00000530908.1_3'UTR	p.L254V	NM_001757.2	NP_001748.1	P16152	CBR1_HUMAN			3	935	+			254					B2RBZ7|B4DFK7|Q3LHW8	Missense_Mutation	SNP	ENST00000290349.6	37	c.760T>G	CCDS13641.1	.	.	.	.	.	.	.	.	.	.	T	18.91	3.723088	0.68959	.	.	ENSG00000159228	ENST00000290349	T	0.14022	2.54	5.85	-0.426	0.12314	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.24851	0.0603	M	0.75615	2.305	0.80722	D	1	D	0.58620	0.983	P	0.54346	0.749	T	0.04579	-1.0941	10	0.87932	D	0	-9.1504	9.9918	0.41877	0.0:0.328:0.0:0.672	.	254	P16152	CBR1_HUMAN	V	254	ENSP00000290349:L254V	ENSP00000290349:L254V	L	+	1	2	CBR1	36366976	0.996000	0.38824	0.997000	0.53966	0.978000	0.69477	0.601000	0.24119	-0.072000	0.12864	-0.290000	0.09829	TTG		0.577	CBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194633.2			26	24	0	0	0	1	0	26	24					G	37445106	T	G	37445106	3	3	265	1	0	0	0	0	1	0	0	0	2708	1606	56	5	770	5	CBR1	21	37445106	Missense_Mutation	SNP	T	TCGA-EL-A4K7-01A-11D-A257-08		37445106	10684789	56	5710											
DGCR14	8220	broad.mit.edu	37	chr22	19125807	19125807	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggatcagctccttgccatcGgggcccaccttgccctgttt	11	15	1	0			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr22:19125807G>A	ENST00000252137.6	-	7	889	c.846C>T	c.(844-846)ccC>ccT	p.P282P		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	282					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					CCTTGCCATCGGGGCCCACCT	0.637																																						ENST00000252137.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16						c.(844-846)ccC>ccT		DiGeorge syndrome critical region gene 14							50	44	46					22																	19125807		2203	4300	6503	SO:0001819	synonymous_variant	8220				nervous system development	catalytic step 2 spliceosome		g.chr22:19125807G>A	L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"DiGeorge syndrome critical region gene 13"	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.846C>T	22.37:g.19125807G>A							p.P282P	NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN			7	889	-	Colorectal(54;0.0993)		282					Q49AH7|Q9BTZ4	Silent	SNP	ENST00000252137.6	37	c.846C>T	CCDS13756.1																																																																																				0.637	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316432.2			4	24	0	0	0	1	0	4	24					A	19125807	G	A	19125807	2	1	265	1	0	0	0	0	0	0	0	1	4460	1103	39	1		1	DGCR14	22	19125807	Silent	SNP	G	TCGA-EL-A4K7-01A-11D-A257-08		19125807	32178759	57	5711											
SEPT5	5413	broad.mit.edu	37	chr22	19708122	19708122	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcattgcatgagaaggtcaAcatcgtgcctctcatcgcca	10	12	2	1			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr22:19708122A>G	ENST00000455784.2	+	7	673	c.548A>G	c.(547-549)aAc>aGc	p.N183S	SEPT5_ENST00000438754.2_Missense_Mutation_p.N192S|SEPT5_ENST00000406395.1_Missense_Mutation_p.N183S|GP1BB_ENST00000366425.3_5'Flank|SEPT5_ENST00000383045.3_Missense_Mutation_p.N192S	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	183	Septin-type G.				cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					GAGAAGGTCAACATCGTGCCT	0.612																																						ENST00000438754.2																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(574-576)aAc>aGc		septin 5							70	56	61					22																	19708122		2203	4300	6503	SO:0001583	missense	5413				cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr22:19708122A>G	Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"Septins"	9164	protein-coding gene	gene with protein product		602724	"peanut-like 1 (Drosophila)"	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.548A>G	22.37:g.19708122A>G	ENSP00000391311:p.Asn183Ser					SEPT5_ENST00000406395.1_Missense_Mutation_p.N183S|SEPT5_ENST00000383045.3_Missense_Mutation_p.N192S|SEPT5_ENST00000455784.2_Missense_Mutation_p.N183S	p.N192S	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN			6	855	+	Colorectal(54;0.0993)		183					O15251|Q96MY5	Missense_Mutation	SNP	ENST00000455784.2	37	c.575A>G	CCDS13764.1	.	.	.	.	.	.	.	.	.	.	A	17.06	3.292743	0.59976	.	.	ENSG00000184702	ENST00000455784;ENST00000406395;ENST00000412544;ENST00000431124;ENST00000383045;ENST00000438754;ENST00000395109	T;T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	3.13	3.13	0.36017	.	0.000000	0.85682	D	0.000000	T	0.79317	0.4425	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81097	-0.1087	10	0.87932	D	0	.	7.6849	0.28534	0.8821:0.0:0.1179:0.0	.	183	Q99719	SEPT5_HUMAN	S	183;183;136;221;192;192;136	ENSP00000391311:N183S;ENSP00000384535:N183S;ENSP00000408678:N136S;ENSP00000414488:N221S;ENSP00000372515:N192S;ENSP00000394541:N192S;ENSP00000378541:N136S	ENSP00000372515:N192S	N	+	2	0	SEPT5	18088122	1.000000	0.71417	0.998000	0.56505	0.556000	0.35491	5.956000	0.70315	1.665000	0.50811	0.260000	0.18958	AAC		0.612	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317937.1	NM_002688		16	48	0	0	0	1	0	16	48					G	19708122	A	G	19708122	3	3	265	1	0	0	0	0	1	0	0	0	14067	43	2	3	574	3	SEPT5	22	19708122	Missense_Mutation	SNP	A	TCGA-EL-A4K7-01A-11D-A257-08	582315	19708122	31596444	58	5712											
BCOR	54880	broad.mit.edu	37	chrX	39922163	39922163	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agcctggcaatcctcttcttCgtctgcacacagcacatctg	7	15	4	0	rs370685925		TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chrX:39922163C>A	ENST00000378444.4	-	9	4237	c.4009G>T	c.(4009-4011)Gaa>Taa	p.E1337*	BCOR_ENST00000397354.3_Nonsense_Mutation_p.E1303*|BCOR_ENST00000342274.4_Nonsense_Mutation_p.E1303*|BCOR_ENST00000378463.1_Nonsense_Mutation_p.E180*|BCOR_ENST00000378455.4_Nonsense_Mutation_p.E1285*	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1337					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TCCTCTTCTTCGTCTGCACAC	0.532			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"F, N, S, T"	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"retinoblastoma, AML, APL(translocation)"		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(3907-3909)Gaa>Taa		BCL6 corepressor							141	112	121					X																	39922163		2202	4300	6502	SO:0001587	stop_gained	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39922163C>A	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.4009G>T	X.37:g.39922163C>A	ENSP00000367705:p.Glu1337*					BCOR_ENST00000378463.1_Nonsense_Mutation_p.E180*|BCOR_ENST00000397354.3_Nonsense_Mutation_p.E1303*|BCOR_ENST00000378455.4_Nonsense_Mutation_p.E1285*|BCOR_ENST00000378444.4_Nonsense_Mutation_p.E1337*	p.E1303*	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			9	4269	-			1337					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Nonsense_Mutation	SNP	ENST00000378444.4	37	c.3907G>T	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	C	45	11.583240	0.99579	.	.	ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000442018	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-10.0684	18.7655	0.91871	0.0:1.0:0.0:0.0	.	.	.	.	X	207;180;1285;1303;1337;1303;10	.	ENSP00000345923:E1303X	E	-	1	0	BCOR	39807107	1.000000	0.71417	0.350000	0.25708	0.966000	0.64601	3.518000	0.53451	2.376000	0.81061	0.600000	0.82982	GAA		0.532	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		7	6	1	0	8.12818e-05	1	9.21194e-05	7	6					A	39922163	C	A	39922163	4	1	265	1	0	0	0	0	0	1	0	0	1386	893	31	4	1286	4	BCOR	23	39922163	Nonsense_Mutation	SNP	C	TCGA-EL-A4K7-01A-11D-A257-08		39922163	115348397	59	5713											
SMC1A	8243	broad.mit.edu	37	chrX	53432827	53432827	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatgttcttgcccaaaaccTtggttacagcaatctgatac	6	12	2	1			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chrX:53432827T>C	ENST00000322213.4	-	10	1734	c.1607A>G	c.(1606-1608)aAg>aGg	p.K536R	SMC1A_ENST00000375340.6_Missense_Mutation_p.K302R	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	536	Flexible hinge.				DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						GCCCAAAACCTTGGTTACAGC	0.488																																						ENST00000322213.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						c.(1606-1608)aAg>aGg		structural maintenance of chromosomes 1A							122	101	108					X																	53432827		2203	4300	6503	SO:0001583	missense	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53432827T>C	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"Structural maintenance of chromosomes proteins"	11111	protein-coding gene	gene with protein product		300040	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.1607A>G	X.37:g.53432827T>C	ENSP00000323421:p.Lys536Arg					SMC1A_ENST00000375340.6_Missense_Mutation_p.K302R	p.K536R	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN			10	1734	-			536			Flexible hinge.		O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	c.1607A>G	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.581156	0.86748	.	.	ENSG00000072501	ENST00000322213;ENST00000375340	D;T	0.85702	-2.02;3.3	5.55	5.55	0.83447	SMCs flexible hinge (3);RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.91071	0.7190	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	0.992;1.0;1.0	D;D;D	0.97110	0.976;0.995;1.0	D	0.91880	0.5515	10	0.72032	D	0.01	.	13.8218	0.63325	0.0:0.0:0.0:1.0	.	302;514;536	B7Z709;Q6MZR8;Q14683	.;.;SMC1A_HUMAN	R	536;302	ENSP00000323421:K536R;ENSP00000364489:K302R	ENSP00000323421:K536R	K	-	2	0	SMC1A	53449552	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.955000	0.87856	1.976000	0.57569	0.486000	0.48141	AAG		0.488	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		4	26	0	0	0	1	0	4	26					C	53432827	T	C	53432827	3	2	265	1	0	0	0	0	1	0	0	0	14781	1609	56	3	2158	3	SMC1A	23	53432827	Missense_Mutation	SNP	T	TCGA-EL-A4K7-01A-11D-A257-08	13510664	53432827	101837733	60	5714											
ASB12	142689	broad.mit.edu	37	chrX	63444817	63444817	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcgattaacagctggatataCtctggctcacaattatgatg	8	8	2	1			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chrX:63444817C>G	ENST00000396130.2	-	1	686	c.687G>C	c.(685-687)gaG>gaC	p.E229D	MTMR8_ENST00000453546.1_Missense_Mutation_p.E613D|ASB12_ENST00000362002.2_Missense_Mutation_p.E238D			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12	229					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						GCTGGATATACTCTGGCTCAC	0.488																																						ENST00000453546.1																			2	Whole gene deletion(2)	p.0?(2)	ovary(1)|large_intestine(1)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						c.(1837-1839)gaG>gaC		myotubularin related protein 8							76	64	68					X																	63444817		2203	4300	6503	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63444817C>G	AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"Ankyrin repeat domain containing"	19763	protein-coding gene	gene with protein product		300891	"ankyrin repeat and SOCS box-containing 12"			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705	ENST00000396130.2:c.687G>C	X.37:g.63444817C>G	ENSP00000379435:p.Glu229Asp					ASB12_ENST00000396130.2_Missense_Mutation_p.E229D|ASB12_ENST00000362002.2_Missense_Mutation_p.E238D	p.E613D			Q96EF0	MTMR8_HUMAN			10	1928	-			0					J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Missense_Mutation	SNP	ENST00000396130.2	37	c.1839G>C		.	.	.	.	.	.	.	.	.	.	C	15.64	2.892608	0.52121	.	.	ENSG00000198881;ENSG00000198881;ENSG00000198881;ENSG00000102043	ENST00000362002;ENST00000396130;ENST00000361287;ENST00000453546	T;T;T	0.55413	0.52;0.52;0.52	4.06	2.27	0.28462	Ankyrin repeat-containing domain (3);	0.110697	0.64402	D	0.000010	T	0.46328	0.1387	N	0.25789	0.76	0.19300	N	0.999976	D;D	0.61697	0.99;0.99	P;P	0.60886	0.88;0.829	T	0.27938	-1.0059	10	0.18276	T	0.48	-5.4416	4.3778	0.11279	0.1833:0.6014:0.0:0.2152	.	613;229	B4DQL0;Q8WXK4	.;ASB12_HUMAN	D	238;229;206;613	ENSP00000355195:E238D;ENSP00000379435:E229D;ENSP00000394003:E613D	ENSP00000354626:E206D	E	-	3	2	ASB12;MTMR8	63361542	0.939000	0.31865	1.000000	0.80357	0.886000	0.51366	0.063000	0.14410	0.866000	0.35629	0.468000	0.43344	GAG		0.488	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				10	19	0	0	0	1	0	10	19					G	63444817	C	G	63444817	3	3	265	1	0	0	0	0	1	0	0	0	1016	564	20	4	250	4	ASB12	23	63444817	Missense_Mutation	SNP	C	TCGA-EL-A4K7-01A-11D-A257-08	10011990	63444817	91825743	61	5715											
ARHGAP4	393	broad.mit.edu	37	chrX	153186148	153186148	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcctcagtggcaccagCggtggtggtggggacactcc	15	14	1	0	rs147143769	byFrequency	TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chrX:153186148C>A	ENST00000350060.5	-	5	654	c.613G>T	c.(613-615)Gct>Tct	p.A205S	ARHGAP4_ENST00000537206.1_Missense_Mutation_p.A182S|ARHGAP4_ENST00000370028.3_Missense_Mutation_p.A205S|ARHGAP4_ENST00000393721.1_Intron|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.A184S	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	205					apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGGCACCAGCGGTGGTGGTG	0.682																																						ENST00000370028.3																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14						c.(613-615)Gct>Tct		Rho GTPase activating protein 4							41	39	39					X																	153186148		2203	4300	6503	SO:0001583	missense	393				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chrX:153186148C>A	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"Rho GTPase activating proteins"	674	protein-coding gene	gene with protein product	"Rho-GAP hematopoietic protein C1"	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.613G>T	X.37:g.153186148C>A	ENSP00000203786:p.Ala205Ser					ARHGAP4_ENST00000537206.1_Missense_Mutation_p.A182S|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.A205S|ARHGAP4_ENST00000393721.1_Intron|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.A184S	p.A205S	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN			5	670	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		205					Q14144|Q86UY3	Missense_Mutation	SNP	ENST00000350060.5	37	c.613G>T	CCDS14736.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.131|0.131	-1.113145|-1.113145	0.01799|0.01799	.|.	.|.	ENSG00000089820|ENSG00000089820	ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206|ENST00000418750	T;T;T;T|.	0.53857|.	2.93;0.6;0.6;0.6|.	4.76|4.76	-3.98|-3.98	0.04082|0.04082	.|.	0.612541|.	0.13651|.	N|.	0.372259|.	T|T	0.19886|0.19886	0.0478|0.0478	N|N	0.12182|0.12182	0.205|0.205	0.09310|0.09310	N|N	1|1	B;B|.	0.28933|.	0.228;0.104|.	B;B|.	0.26517|.	0.07;0.044|.	T|T	0.32534|0.32534	-0.9903|-0.9903	10|6	0.02654|0.87932	T|D	1|0	.|.	6.5087|6.5087	0.22210|0.22210	0.0:0.3463:0.1231:0.5306|0.0:0.3463:0.1231:0.5306	.|.	205;205|.	Q86UY3;P98171|.	.;RHG04_HUMAN|.	S|L	205;205;184;182|52	ENSP00000359045:A205S;ENSP00000203786:A205S;ENSP00000359033:A184S;ENSP00000444169:A182S|.	ENSP00000203786:A205S|ENSP00000385042:R214L	A|R	-|-	1|2	0|0	ARHGAP4|ARHGAP4	152839342|152839342	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.010000|0.010000	0.07245|0.07245	-2.427000|-2.427000	0.01026|0.01026	-1.150000|-1.150000	0.02840|0.02840	-0.297000|-0.297000	0.09499|0.09499	GCT|CGC		0.682	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		8	24	1	0	0.0381472	1	0.0387166	8	24					A	153186148	C	A	153186148	3	1	265	1	0	0	0	0	1	0	0	0	885	768	27	4	2423	4	ARHGAP4	23	153186148	Missense_Mutation	SNP	C	TCGA-EL-A4K7-01A-11D-A257-08	89741331	153186148	2084412	62	5716											
HSPG2	3339	broad.mit.edu	37	chr1	22202372	22202372	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacctcccggaaaggcacaAtgaaggtgctgggctggccg	14	12	1	1			TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr1:22202372A>G	ENST00000374695.3	-	24	3246	c.3167T>C	c.(3166-3168)aTt>aCt	p.I1056T		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1056	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GAAAGGCACAATGAAGGTGCT	0.637																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(3166-3168)aTt>aCt		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						46	49	48					1																	22202372		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22202372A>G	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.3167T>C	1.37:g.22202372A>G	ENSP00000363827:p.Ile1056Thr						p.I1056T	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	24	3246	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	1056			Laminin IV type A 2.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.3167T>C	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	2.104	-0.405408	0.04832	.	.	ENSG00000142798	ENST00000374695	T	0.33654	1.4	5.51	4.58	0.56647	Laminin B type IV (2);Laminin B, subgroup (1);	0.599141	0.13858	N	0.357873	T	0.10337	0.0253	N	0.00670	-1.27	0.23150	N	0.998215	B	0.02656	0.0	B	0.01281	0.0	T	0.27706	-1.0066	10	0.02654	T	1	.	9.6251	0.39746	0.1733:0.0:0.8267:0.0	.	1056	P98160	PGBM_HUMAN	T	1056	ENSP00000363827:I1056T	ENSP00000363827:I1056T	I	-	2	0	HSPG2	22074959	0.999000	0.42202	0.734000	0.30879	0.946000	0.59487	2.887000	0.48586	0.685000	0.31468	-0.215000	0.12644	ATT		0.637	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		37	68	0	0	0	1	0	37	68					G	22202372	A	G	22202372	3	3	266	1	0	0	0	0	1	0	0	0	7430	101	4	3	10304	3	HSPG2	1	22202372	Missense_Mutation	SNP	A	TCGA-EL-A4K9-01A-11D-A257-08		22202372	227048249	1	5717											
AMPD2	271	broad.mit.edu	37	chr1	110171834	110171834	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgcaccctgccagccacccgGaactgcatctcttcttagag	8	16	2	1			TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr1:110171834G>T	ENST00000256578.3	+	13	2197	c.1837G>T	c.(1837-1839)Gaa>Taa	p.E613*	AMPD2_ENST00000342115.4_Nonsense_Mutation_p.E532*|AMPD2_ENST00000393688.3_Nonsense_Mutation_p.E494*|AMPD2_ENST00000528667.1_Nonsense_Mutation_p.E613*|AMPD2_ENST00000526301.1_3'UTR|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000358729.4_Nonsense_Mutation_p.E538*|AMPD2_ENST00000528454.1_Nonsense_Mutation_p.E495*	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	613					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CAGCCACCCGGAACTGCATCT	0.612																																						ENST00000256578.3																			0				breast(1)|large_intestine(3)|ovary(2)|skin(1)	7						c.(1837-1839)Gaa>Taa		adenosine monophosphate deaminase 2							60	60	60					1																	110171834		2203	4300	6503	SO:0001587	stop_gained	271				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:110171834G>T	S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"AMPD isoform L"	102771	"adenosine monophosphate deaminase 2 (isoform L)"			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.1837G>T	1.37:g.110171834G>T	ENSP00000256578:p.Glu613*					AMPD2_ENST00000342115.4_Nonsense_Mutation_p.E532*|AMPD2_ENST00000528667.1_Nonsense_Mutation_p.E613*|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000528454.1_Nonsense_Mutation_p.E495*|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000393688.3_Nonsense_Mutation_p.E494*|AMPD2_ENST00000358729.4_Nonsense_Mutation_p.E538*	p.E613*	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)	13	2197	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	613					B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Nonsense_Mutation	SNP	ENST00000256578.3	37	c.1837G>T	CCDS805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.577397|7.577397	0.98368|0.98368	.|.	.|.	ENSG00000116337|ENSG00000116337	ENST00000342115;ENST00000528667;ENST00000256578;ENST00000358729;ENST00000528454;ENST00000393688|ENST00000369840	.|.	.|.	.|.	4.93|4.93	4.93|4.93	0.64822|0.64822	.|.	0.050350|.	0.85682|.	D|.	0.000000|.	.|T	.|0.67571	.|0.2907	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.66333	.|-0.5950	.|3	0.16896|.	T|.	0.51|.	-22.4731|-22.4731	17.931|17.931	0.88998|0.88998	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|V	532;613;613;538;495;494|583	.|.	ENSP00000256578:E613X|.	E|G	+|+	1|2	0|0	AMPD2|AMPD2	109973357|109973357	1.000000|1.000000	0.71417|0.71417	0.950000|0.950000	0.38849|0.38849	0.148000|0.148000	0.21650|0.21650	7.524000|7.524000	0.81866|0.81866	2.555000|2.555000	0.86185|0.86185	0.655000|0.655000	0.94253|0.94253	GAA|GGA		0.612	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1			15	49	1	0	2.61681e-11	1	2.71373e-11	15	49					T	110171834	G	T	110171834	4	4	266	1	0	0	0	0	0	1	0	0	586	1175	41	4	1928	4	AMPD2	1	110171834	Nonsense_Mutation	SNP	G	TCGA-EL-A4K9-01A-11D-A257-08	87969462	110171834	139078787	2	5718											
CENPF	1063	broad.mit.edu	37	chr1	214818552	214818552	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagataaatcatcacgtgAagatattggagataatgtgg	11	4	2	4			TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr1:214818552A>G	ENST00000366955.3	+	13	5807	c.5639A>G	c.(5638-5640)gAa>gGa	p.E1880G		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1976					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TCATCACGTGAAGATATTGGA	0.408																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(5638-5640)gAa>gGa		centromere protein F, 350/400kDa							55	54	55					1																	214818552		2203	4300	6503	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214818552A>G	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.5639A>G	1.37:g.214818552A>G	ENSP00000355922:p.Glu1880Gly						p.E1880G	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	13	5807	+			1976					Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.5639A>G	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	A	2.342	-0.350825	0.05173	.	.	ENSG00000117724	ENST00000366955	T	0.03441	3.93	5.13	2.82	0.32997	.	0.456150	0.16308	N	0.220146	T	0.04003	0.0112	L	0.47716	1.5	0.09310	N	1	B	0.30068	0.267	B	0.22386	0.039	T	0.38023	-0.9680	10	0.27082	T	0.32	.	10.8636	0.46842	0.4475:0.5525:0.0:0.0	.	1976	P49454	CENPF_HUMAN	G	1880	ENSP00000355922:E1880G	ENSP00000355922:E1880G	E	+	2	0	CENPF	212885175	0.000000	0.05858	0.155000	0.22561	0.024000	0.10985	0.209000	0.17435	0.777000	0.33496	0.421000	0.28195	GAA		0.408	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		24	41	0	0	0	1	0	24	41					G	214818552	A	G	214818552	3	3	266	1	0	0	0	0	1	0	0	0	3231	246	9	3	5685	3	CENPF	1	214818552	Missense_Mutation	SNP	A	TCGA-EL-A4K9-01A-11D-A257-08	104646718	214818552	34432069	3	5719											
ZNF660	285349	broad.mit.edu	37	chr3	44635702	44635702	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gaaaatgaggagaaagacaaGaaatttcaaacataagacag	9	4	1	5			TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr3:44635702G>C	ENST00000322734.2	+	3	350	c.17G>C	c.(16-18)aGa>aCa	p.R6T	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	6					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		AGAAAGACAAGAAATTTCAAA	0.413																																						ENST00000322734.2																			0				large_intestine(2)|lung(4)	6						c.(16-18)aGa>aCa		zinc finger protein 660							97	92	94					3																	44635702		2203	4300	6503	SO:0001583	missense	285349				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44635702G>C	AK094189	CCDS2716.1	3p21.32	2013-01-08			ENSG00000144792	ENSG00000144792		"Zinc fingers, C2H2-type"	26720	protein-coding gene	gene with protein product							Standard	NM_173658		Approved	FLJ36870	uc003cnl.1	Q6AZW8	OTTHUMG00000133097	ENST00000322734.2:c.17G>C	3.37:g.44635702G>C	ENSP00000324605:p.Arg6Thr					RP11-944L7.4_ENST00000457331.1_RNA	p.R6T	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)	3	350	+			6					Q7Z331|Q8N9M8	Missense_Mutation	SNP	ENST00000322734.2	37	c.17G>C	CCDS2716.1	.	.	.	.	.	.	.	.	.	.	G	1.013	-0.687148	0.03328	.	.	ENSG00000144792	ENST00000416644;ENST00000441021;ENST00000322734	T	0.08634	3.07	4.65	4.65	0.58169	.	.	.	.	.	T	0.03827	0.0108	N	0.08118	0	0.58432	D	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.46190	-0.9209	8	.	.	.	.	6.794	0.23715	0.0939:0.1802:0.726:0.0	.	6	Q6AZW8	ZN660_HUMAN	T	6	ENSP00000324605:R6T	.	R	+	2	0	ZNF660	44610706	0.696000	0.27757	0.864000	0.33941	0.096000	0.18686	3.525000	0.53502	2.575000	0.86900	0.655000	0.94253	AGA		0.413	ZNF660-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256756.4	NM_173658		19	50	0	0	0	1	0	19	50					C	44635702	G	C	44635702	3	2	266	1	0	0	0	0	1	0	0	0	18067	942	33	4	19	4	ZNF660	3	44635702	Missense_Mutation	SNP	G	TCGA-EL-A4K9-01A-11D-A257-08		44635702	153386728	4	5720			1	12		2	2	90	G		6.324751e-05
ZNF660	285349	broad.mit.edu	37	chr3	44635791	44635791	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aagacaatagtcagtgctgtGaccctgcaacaaatgagaga	10	8	1	4			TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr3:44635791G>C	ENST00000322734.2	+	3	439	c.106G>C	c.(106-108)Gac>Cac	p.D36H	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	36					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		TCAGTGCTGTGACCCTGCAAC	0.398																																						ENST00000322734.2																			0				large_intestine(2)|lung(4)	6						c.(106-108)Gac>Cac		zinc finger protein 660							112	109	110					3																	44635791		2203	4300	6503	SO:0001583	missense	285349				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44635791G>C	AK094189	CCDS2716.1	3p21.32	2013-01-08			ENSG00000144792	ENSG00000144792		"Zinc fingers, C2H2-type"	26720	protein-coding gene	gene with protein product							Standard	NM_173658		Approved	FLJ36870	uc003cnl.1	Q6AZW8	OTTHUMG00000133097	ENST00000322734.2:c.106G>C	3.37:g.44635791G>C	ENSP00000324605:p.Asp36His					RP11-944L7.4_ENST00000457331.1_RNA	p.D36H	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)	3	439	+			36					Q7Z331|Q8N9M8	Missense_Mutation	SNP	ENST00000322734.2	37	c.106G>C	CCDS2716.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.697863	0.00725	.	.	ENSG00000144792	ENST00000416644;ENST00000322734	T	0.08282	3.11	4.65	0.874	0.19124	.	.	.	.	.	T	0.03608	0.0103	N	0.08118	0	0.09310	N	1	B	0.17268	0.021	B	0.15870	0.014	T	0.47262	-0.9131	8	.	.	.	.	5.2933	0.15739	0.3421:0.144:0.5138:0.0	.	36	Q6AZW8	ZN660_HUMAN	H	36	ENSP00000324605:D36H	.	D	+	1	0	ZNF660	44610795	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.498000	0.22530	0.295000	0.22570	0.655000	0.94253	GAC		0.398	ZNF660-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256756.4	NM_173658		29	64	0	0	0	1	0	29	64					C	44635791	G	C	44635791	3	2	266	1	0	0	0	0	1	0	0	0	18067	1290	45	4	108	4	ZNF660	3	44635791	Missense_Mutation	SNP	G	TCGA-EL-A4K9-01A-11D-A257-08	89	44635791	153386639	5	5721			1	12		2	2	90	G		6.324751e-05
CACNA2D3	55799	broad.mit.edu	37	chr3	54157600	54157600	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccattgctgctaagtactcCggttcccagcttctgcaaaa	7	13	1	0			TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr3:54157600C>A	ENST00000474759.1	+	2	231	c.183C>A	c.(181-183)tcC>tcA	p.S61S	CACNA2D3_ENST00000490478.1_5'UTR|CACNA2D3_ENST00000288197.5_Silent_p.S61S|CACNA2D3_ENST00000415676.2_Silent_p.S61S	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	61						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	CTAAGTACTCCGGTTCCCAGC	0.493																																						ENST00000474759.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59						c.(181-183)tcC>tcA		calcium channel, voltage-dependent, alpha 2/delta subunit 3							132	129	130					3																	54157600		1904	4127	6031	SO:0001819	synonymous_variant	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:54157600C>A	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"Calcium channel subunits"	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.183C>A	3.37:g.54157600C>A						CACNA2D3_ENST00000288197.5_Silent_p.S61S|CACNA2D3_ENST00000415676.2_Silent_p.S61S|CACNA2D3_ENST00000490478.1_5'UTR	p.S61S	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	2	231	+			61					B2RPL6|Q9NY16|Q9NY18	Silent	SNP	ENST00000474759.1	37	c.183C>A	CCDS54598.1																																																																																				0.493	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			4	147	1	0	0.150653	1	0.150653	4	147					A	54157600	C	A	54157600	2	1	266	1	0	0	0	0	0	0	0	1	2550	639	23	4		4	CACNA2D3	3	54157600	Silent	SNP	C	TCGA-EL-A4K9-01A-11D-A257-08	9521809	54157600	143864830	6	5722											
TFAP2B	7021	broad.mit.edu	37	chr6	50791398	50791398	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgggttcggaagccggctcTctcctgccccagcctcgggc	14	16	1	0			TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr6:50791398T>C	ENST00000393655.3	+	2	529	c.360T>C	c.(358-360)tcT>tcC	p.S120S	TFAP2B_ENST00000489228.1_3'UTR|TFAP2B_ENST00000263046.4_Silent_p.S129S	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	120	Gln/Pro-rich (transactivation domain).				aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|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 neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|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 coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AAGCCGGCTCTCTCCTGCCCC	0.697																																					Pancreas(116;1373 2332 5475 10752)	ENST00000263046.4																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40						c.(385-387)tcT>tcC		transcription factor AP-2 beta (activating enhancer binding protein 2 beta)							25	28	27					6																	50791398		2201	4300	6501	SO:0001819	synonymous_variant	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50791398T>C	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.360T>C	6.37:g.50791398T>C						TFAP2B_ENST00000489228.1_3'UTR|TFAP2B_ENST00000393655.3_Silent_p.S120S	p.S129S			Q92481	AP2B_HUMAN			3	553	+	Lung NSC(77;0.156)		120			Gln/Pro-rich (transactivation domain).		Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Silent	SNP	ENST00000393655.3	37	c.387T>C	CCDS4934.2																																																																																				0.697	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		8	17	0	0	0	1	0	8	17					C	50791398	T	C	50791398	2	2	266	1	0	0	0	0	0	0	0	1	15785	1538	54	3		3	TFAP2B	6	50791398	Silent	SNP	T	TCGA-EL-A4K9-01A-11D-A257-08		50791398	120323669	7	5723											
AUTS2	26053	broad.mit.edu	37	chr7	70227978	70227978	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggactgttgcaaagagccaAtctttgagcctgtggtgctt	12	8	1	2	rs148610030	byFrequency	TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr7:70227978A>G	ENST00000342771.4	+	7	1186	c.865A>G	c.(865-867)Atc>Gtc	p.I289V	AUTS2_ENST00000406775.2_Missense_Mutation_p.I289V	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	289										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CAAAGAGCCAATCTTTGAGCC	0.587													a|||	6	0.00119808	0.0038	0	5008	,	,		18152	0		0	False		,,,				2504	0.001					ENST00000342771.4																			0				breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50						c.(865-867)Atc>Gtc		autism susceptibility candidate 2		G	VAL/ILE,VAL/ILE	10,4396	16.8+/-37.8	0,10,2193	127	126	126		865,865	-7.9	0.0	7	dbSNP_134	126	0,8600		0,0,4300	yes	missense,missense	AUTS2	NM_001127231.1,NM_015570.2	29,29	0,10,6493	GG,GA,AA		0.0,0.227,0.0769	benign,benign	289/1236,289/1260	70227978	10,12996	2203	4300	6503	SO:0001583	missense	26053							g.chr7:70227978A>G	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.865A>G	7.37:g.70227978A>G	ENSP00000344087:p.Ile289Val					AUTS2_ENST00000406775.2_Missense_Mutation_p.I289V	p.I289V	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	7	1186	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	289					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.865A>G	CCDS5539.1	2|2	9.157509157509158E-4|9.157509157509158E-4	2|2	0.0040650406504065045|0.0040650406504065045	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	a|a	8.791|8.791	0.930584|0.930584	0.18131|0.18131	0.00227|0.00227	0.0|0.0	ENSG00000158321|ENSG00000158321	ENST00000406775;ENST00000342771|ENST00000416482	T;T|.	0.29655|.	1.57;1.56|.	5.47|5.47	-7.92|-7.92	0.01160|0.01160	.|.	0.747786|.	0.12661|.	N|.	0.449613|.	T|T	0.27349|0.27349	0.0671|0.0671	L|L	0.29908|0.29908	0.895|0.895	0.24636|0.24636	N|N	0.993594|0.993594	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.35724|0.35724	-0.9777|-0.9777	9|5	.|.	.|.	.|.	-1.8391|-1.8391	8.8096|8.8096	0.34959|0.34959	0.2692:0.3661:0.3647:0.0|0.2692:0.3661:0.3647:0.0	.|.	289;289|.	Q8WXX7-2;Q8WXX7|.	.;AUTS2_HUMAN|.	V|S	289|69	ENSP00000385263:I289V;ENSP00000344087:I289V|.	.|.	I|N	+|+	1|2	0|0	AUTS2|AUTS2	69865914|69865914	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.713000|0.713000	0.41058|0.41058	-0.105000|-0.105000	0.10907|0.10907	-1.145000|-1.145000	0.02858|0.02858	-0.377000|-0.377000	0.06932|0.06932	ATC|AAT		0.587	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			14	124	0	0	0	1	0	14	124					G	70227978	A	G	70227978	3	3	266	1	0	0	0	0	1	0	0	0	1225	101	4	3	1036	3	AUTS2	7	70227978	Missense_Mutation	SNP	A	TCGA-EL-A4K9-01A-11D-A257-08		70227978	88910685	8	5724											
DLX6	1750	broad.mit.edu	37	chr7	96635421	96635423	+	In_Frame_Del	DEL	GCC	GCC	-													cagcagcagcaacagcaacaGccgccgccgccgccgccgcc					rs527616759|rs540915866|rs570498188|rs374304439	byFrequency	TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr7:96635421_96635423delGCC	ENST00000518156.2	+	1	562_564	c.132_134delGCC	c.(130-135)cagccg>cag	p.P53del	DLX6-AS1_ENST00000437541.1_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000555308.1_5'Flank|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000431497.2_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS2_ENST00000606174.1_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	0					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					aacagcaacagccgccgccgccg	0.704																																						ENST00000518156.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(130-135)cag>ca		distal-less homeobox 6																																				SO:0001651	inframe_deletion	1750				nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:96635421_96635423delGCC		CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"Homeoboxes / ANTP class : NKL subclass"	2919	protein-coding gene	gene with protein product		600030	"distal-less homeo box 6"			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.132_134delGCC	7.37:g.96635430_96635432delGCC	ENSP00000428480:p.Pro53del					DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000452769.2_RNA	p.QP44del			P56179	DLX6_HUMAN			1	562_564	+	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		0					A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	In_Frame_Del	DEL	ENST00000518156.2	37	c.132_134delGCC	CCDS47647.2																																																																																				0.704	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	NM_005222		2	4						2	4	---	---	---	---	-	96635423	GCC	-	96635421	7	5	266	1	0	1	0	1	0	0	0	0	4575	962	34	0	134	0	DLX6	7	96635421	In_Frame_Del	DEL	GCC	TCGA-EL-A4K9-01A-11D-A257-08	26407443	96635421	62503242	9	5725											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		22	37	0	0	0	1	0	22	37					T	140453136	A	T	140453136	3	4	266	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A4K9-01A-11D-A257-08	43817715	140453136	18685527	10	5726											
EPHB6	2051	broad.mit.edu	37	chr7	142562146	142562146	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gctggactgcaactgaacgtCaaagagcggagctttgggcc	14	10	1	2			TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr7:142562146C>G	ENST00000392957.2	+	7	1375	c.588C>G	c.(586-588)gtC>gtG	p.V196V	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Silent_p.V196V	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	196	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					AACTGAACGTCAAAGAGCGGA	0.657																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(586-588)gtC>gtG		EPH receptor B6							132	145	140					7																	142562146		2202	4299	6501	SO:0001819	synonymous_variant	0					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142562146C>G	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.588C>G	7.37:g.142562146C>G						EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Silent_p.V196V	p.V196V	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			7	1375	+	Melanoma(164;0.059)		196					A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	ENST00000392957.2	37	c.588C>G	CCDS5873.2																																																																																				0.657	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			114	225	0	0	0	1	0	114	225					G	142562146	C	G	142562146	2	3	266	1	0	0	0	0	0	0	0	1	5178	813	29	4		4	EPHB6	7	142562146	Silent	SNP	C	TCGA-EL-A4K9-01A-11D-A257-08	2109010	142562146	16576517	11	5727											
SECISBP2	79048	broad.mit.edu	37	chr9	91954833	91954833	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctgaaagaagagacagaataGagacaccgaaatttcaatct	8	7	2	5			TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr9:91954833G>C	ENST00000375807.3	+	9	1338	c.1267G>C	c.(1267-1269)Gag>Cag	p.E423Q	SECISBP2_ENST00000339901.4_Missense_Mutation_p.E350Q|SECISBP2_ENST00000534113.2_Missense_Mutation_p.E355Q	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	423					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AGACAGAATAGAGACACCGAA	0.403																																						ENST00000375807.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						c.(1267-1269)Gag>Cag		SECIS binding protein 2							100	100	100					9																	91954833		2203	4300	6503	SO:0001583	missense	79048				translation	nucleus	mRNA 3'-UTR binding	g.chr9:91954833G>C	AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.1267G>C	9.37:g.91954833G>C	ENSP00000364965:p.Glu423Gln					SECISBP2_ENST00000534113.2_Missense_Mutation_p.E355Q|SECISBP2_ENST00000339901.4_Missense_Mutation_p.E350Q	p.E423Q	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN			9	1338	+			423					F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	ENST00000375807.3	37	c.1267G>C	CCDS6683.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.477821	0.26511	.	.	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113;ENST00000425851	T;T;T;T	0.72725	-0.68;-0.68;-0.68;0.93	4.94	2.99	0.34606	.	0.627907	0.15701	N	0.248906	T	0.48169	0.1485	N	0.17474	0.49	0.09310	N	1	B;B;B	0.23377	0.024;0.084;0.024	B;B;B	0.22601	0.013;0.04;0.007	T	0.24048	-1.0171	10	0.18276	T	0.48	-9.9042	5.5196	0.16925	0.0765:0.1412:0.6359:0.1463	.	430;350;423	Q59H19;Q96T21-2;Q96T21	.;.;SEBP2_HUMAN	Q	423;429;350;355;220	ENSP00000364965:E423Q;ENSP00000364959:E350Q;ENSP00000436650:E355Q;ENSP00000414288:E220Q	ENSP00000364959:E350Q	E	+	1	0	SECISBP2	91144653	0.394000	0.25246	0.867000	0.34043	0.987000	0.75469	1.923000	0.40055	1.295000	0.44724	0.655000	0.94253	GAG		0.403	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077		45	52	0	0	0	1	0	45	52					C	91954833	G	C	91954833	3	2	266	1	0	0	0	0	1	0	0	0	14006	943	33	4	1301	4	SECISBP2	9	91954833	Missense_Mutation	SNP	G	TCGA-EL-A4K9-01A-11D-A257-08		91954833	49258598	12	5728											
GDF2	2658	broad.mit.edu	37	chr10	48416491	48416491	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccactcaggttaaggctgCgcaggaaatccaccttcacg	9	15	2	0	rs200330818		TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr10:48416491C>T	ENST00000249598.1	-	1	362	c.203G>A	c.(202-204)cGc>cAc	p.R68H		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	68			R -> L (in HHT5; impaired protein processing and function). {ECO:0000269|PubMed:23972370}.		activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GTTAAGGCTGCGCAGGAAATC	0.577																																						ENST00000249598.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						c.(202-204)cGc>cAc		growth differentiation factor 2							80	74	76					10																	48416491		2203	4300	6503	SO:0001583	missense	2658				activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr10:48416491C>T	AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"Endogenous ligands"	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.203G>A	10.37:g.48416491C>T	ENSP00000249598:p.Arg68His						p.R68H	NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN			1	362	-			68					Q5VSQ9|Q9Y571	Missense_Mutation	SNP	ENST00000249598.1	37	c.203G>A	CCDS7219.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.011730	0.54468	.	.	ENSG00000128802	ENST00000249598	T	0.66460	-0.21	5.22	4.32	0.51571	Transforming growth factor-beta, N-terminal (1);	0.048640	0.85682	D	0.000000	T	0.60818	0.2298	M	0.64404	1.975	0.58432	D	0.999995	P	0.43024	0.798	B	0.36608	0.229	T	0.62835	-0.6770	10	0.38643	T	0.18	.	13.1607	0.59542	0.0:0.9222:0.0:0.0778	.	68	Q9UK05	GDF2_HUMAN	H	68	ENSP00000249598:R68H	ENSP00000249598:R68H	R	-	2	0	GDF2	48036497	1.000000	0.71417	1.000000	0.80357	0.375000	0.29983	3.864000	0.56024	1.339000	0.45563	-0.136000	0.14681	CGC		0.577	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047891.1	NM_016204		7	72	0	0	0	1	0	7	72					T	48416491	C	T	48416491	3	4	266	1	0	0	0	0	1	0	0	0	6314	768	27	1	1094	1	GDF2	10	48416491	Missense_Mutation	SNP	C	TCGA-EL-A4K9-01A-11D-A257-08		48416491	87118256	13	5729											
GOT1	2805	broad.mit.edu	37	chr10	101180440	101180440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagacgagaagcacagctccGgaactcagccaggcccagga	12	13	1	2			TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr10:101180440G>A	ENST00000370508.5	-	2	268	c.241C>T	c.(241-243)Cgg>Tgg	p.R81W	GOT1_ENST00000543866.1_Missense_Mutation_p.R60W|GOT1_ENST00000471741.1_5'UTR	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	81					2-oxoglutarate metabolic process (GO:0006103)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to insulin stimulus (GO:0032869)|fatty acid homeostasis (GO:0055089)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|glycerol biosynthetic process (GO:0006114)|L-methionine biosynthetic process from methylthioadenosine (GO:0019509)|oxaloacetate metabolic process (GO:0006107)|polyamine metabolic process (GO:0006595)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	carboxylic acid binding (GO:0031406)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-cysteine:2-oxoglutarate aminotransferase activity (GO:0047801)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|phosphatidylserine decarboxylase activity (GO:0004609)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)	GCACAGCTCCGGAACTCAGCC	0.488																																					Melanoma(173;770 3544 21601)	ENST00000370508.5																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16						c.(241-243)Cgg>Tgg		glutamic-oxaloacetic transaminase 1, soluble	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						125	119	121					10																	101180440		2203	4300	6503	SO:0001583	missense	2805				aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr10:101180440G>A	M37400	CCDS7479.1	10q24.1-q25.1	2013-05-29	2013-05-29		ENSG00000120053	ENSG00000120053	2.6.1.1		4432	protein-coding gene	gene with protein product	"aspartate aminotransferase 1", "aspartate transaminase 1"	138180	"glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)"			1974457	Standard	NM_002079		Approved		uc001kpr.3	P17174	OTTHUMG00000018882	ENST00000370508.5:c.241C>T	10.37:g.101180440G>A	ENSP00000359539:p.Arg81Trp					GOT1_ENST00000543866.1_Missense_Mutation_p.R60W|GOT1_ENST00000471741.1_5'UTR	p.R81W	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	2	268	-		Ovarian(717;0.028)|Colorectal(252;0.234)	81					B2R6R7|B7Z7E9|Q5VW80	Missense_Mutation	SNP	ENST00000370508.5	37	c.241C>T	CCDS7479.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.549204	0.65311	.	.	ENSG00000120053	ENST00000370508;ENST00000543866	T;T	0.31510	1.49;1.49	5.77	5.77	0.91146	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.61800	0.2376	M	0.84156	2.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.977	T	0.64651	-0.6357	10	0.87932	D	0	-19.8922	19.9576	0.97228	0.0:0.0:1.0:0.0	.	81;81	Q2TU84;P17174	.;AATC_HUMAN	W	81;60	ENSP00000359539:R81W;ENSP00000445578:R60W	ENSP00000359539:R81W	R	-	1	2	GOT1	101170430	1.000000	0.71417	1.000000	0.80357	0.456000	0.32438	4.209000	0.58493	2.885000	0.99019	0.655000	0.94253	CGG		0.488	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049794.1	NM_002079		17	50	0	0	0	1	0	17	50					A	101180440	G	A	101180440	3	1	266	1	0	0	0	0	1	0	0	0	6579	1115	39	1	1032	1	GOT1	10	101180440	Missense_Mutation	SNP	G	TCGA-EL-A4K9-01A-11D-A257-08	52763949	101180440	34354307	14	5730											
BAD	572	broad.mit.edu	37	chr11	64037703	64037703	+	Frame_Shift_Del	DEL	C	C	-													actgggagggggcggagcttCccctgcccaagttccgatcc							TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr11:64037703delC	ENST00000394532.3	-	3	755	c.485delG	c.(484-486)ggafs	p.G162fs	BAD_ENST00000544785.1_Frame_Shift_Del_p.G98fs|BAD_ENST00000309032.3_Frame_Shift_Del_p.G162fs	NM_004322.3	NP_004313.1	Q92934	BAD_HUMAN	BCL2-associated agonist of cell death	162					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ADP metabolic process (GO:0046031)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|ATP metabolic process (GO:0046034)|cellular process regulating host cell cycle in response to virus (GO:0060154)|cellular response to chromate (GO:0071247)|cellular response to hypoxia (GO:0071456)|cellular response to lipid (GO:0071396)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose catabolic process (GO:0006007)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|pore complex assembly (GO:0046931)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process by virus (GO:0060139)|positive regulation of autophagy (GO:0010508)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane potential (GO:0010918)|positive regulation of neuron death (GO:1901216)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of mitochondrial membrane permeability (GO:0046902)|release of cytochrome c from mitochondria (GO:0001836)|response to amino acid (GO:0043200)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to oleic acid (GO:0034201)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|suppression by virus of host apoptotic process (GO:0019050)|type B pancreatic cell proliferation (GO:0044342)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|lipid binding (GO:0008289)|phospholipid binding (GO:0005543)|protein kinase binding (GO:0019901)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						GGCGGAGCTTCCCCTGCCCAA	0.632																																						ENST00000394532.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						c.(484-486)gafs		BCL2-associated agonist of cell death							81	71	74					11																	64037703		2201	4297	6498	SO:0001589	frameshift_variant	572				activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation	cytosol|mitochondrial outer membrane	caspase activator activity|phospholipid binding|protein kinase binding	g.chr11:64037703delC	AF021792	CCDS8065.1	11q13.1	2014-03-07	2008-08-19		ENSG00000002330	ENSG00000002330			936	protein-coding gene	gene with protein product		603167				8929532	Standard	NM_004322		Approved	BCL2L8, BBC2	uc001nzd.3	Q92934	OTTHUMG00000134302	ENST00000394532.3:c.485delG	11.37:g.64037703delC	ENSP00000378040:p.Gly162fs					BAD_ENST00000544785.1_Frame_Shift_Del_p.G98fs|BAD_ENST00000309032.3_Frame_Shift_Del_p.G162fs	p.G162fs	NM_004322.3	NP_004313.1	Q92934	BAD_HUMAN			3	755	-			162					O14803|Q6FH21	Frame_Shift_Del	DEL	ENST00000394532.3	37	c.485delG	CCDS8065.1																																																																																				0.632	BAD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259180.2	NM_032989		21	37						21	37	---	---	---	---	-	64037703	C	-	64037703	7	5	266	1	0	1	0	1	0	0	0	0	1285	855	30	0	25	0	BAD	11	64037703	Frame_Shift_Del	DEL	C	TCGA-EL-A4K9-01A-11D-A257-08		64037703	70968813	15	5731											
KRTAP5-9	3846	broad.mit.edu	37	chr11	71259896	71259896	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcaagcggggctgtggctccTgtgggggctccaagggaggc	20	10	0	0			TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr11:71259896T>A	ENST00000528743.2	+	1	431	c.193T>A	c.(193-195)Tgt>Agt	p.C65S		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	65	8 X 4 AA repeats of C-C-X-P.				epidermis development (GO:0008544)	keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						CTGTGGCTCCTGTGGGGGCTC	0.632																																						ENST00000528743.2																			0				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						c.(193-195)Tgt>Agt		keratin associated protein 5-9							100	116	110					11																	71259896		2200	4293	6493	SO:0001583	missense	3846				epidermis development	keratin filament		g.chr11:71259896T>A	AB126078	CCDS53677.1	11q13.4	2008-02-05				ENSG00000254997		"Keratin associated proteins"	23604	protein-coding gene	gene with protein product		148021		KRN1		15144888	Standard	NM_005553		Approved	KRTAP5.9, KRTAP5-1	uc001oqs.1	P26371		ENST00000528743.2:c.193T>A	11.37:g.71259896T>A	ENSP00000431443:p.Cys65Ser						p.C65S	NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN			1	431	+			65			8 X 4 AA repeats of C-C-X-P.		Q14564|Q3MIP8	Missense_Mutation	SNP	ENST00000528743.2	37	c.193T>A	CCDS53677.1	.	.	.	.	.	.	.	.	.	.	N	1.443	-0.567073	0.03910	.	.	ENSG00000254997	ENST00000528743	T	0.03801	3.8	1.21	1.21	0.21127	.	.	.	.	.	T	0.05823	0.0152	M	0.86028	2.79	0.22666	N	0.998879	P	0.50710	0.938	B	0.37943	0.261	T	0.26883	-1.0090	9	0.02654	T	1	.	6.5676	0.22521	0.0:0.0:0.0:1.0	.	65	P26371	KRA59_HUMAN	S	65	ENSP00000431443:C65S	ENSP00000431443:C65S	C	+	1	0	KRTAP5-9	70937544	0.994000	0.37717	0.996000	0.52242	0.080000	0.17528	1.957000	0.40392	0.818000	0.34468	0.363000	0.22086	TGT		0.632	KRTAP5-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393901.2			8	246	0	0	0	1	0	8	246					A	71259896	T	A	71259896	3	1	266	1	0	0	0	0	1	0	0	0	8568	1580	55	5	195	5	KRTAP5-9	11	71259896	Missense_Mutation	SNP	T	TCGA-EL-A4K9-01A-11D-A257-08	7222193	71259896	63746620	16	5732											
RPUSD4	84881	broad.mit.edu	37	chr11	126081384	126081384	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tgttcccgtttctgggctcgGagcttctccgctaatctctg	10	13	3	0			TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr11:126081384G>C	ENST00000298317.4	-	1	203	c.150C>G	c.(148-150)ctC>ctG	p.L50L	RPUSD4_ENST00000533628.1_Silent_p.L50L|FAM118B_ENST00000533050.1_5'UTR|RP11-50B3.4_ENST00000532866.1_RNA|FAM118B_ENST00000529731.1_5'Flank|FAM118B_ENST00000360194.4_5'Flank|RNU4-86P_ENST00000410135.1_RNA|RPUSD4_ENST00000534393.1_5'Flank	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	50					pseudouridine synthesis (GO:0001522)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		TCTGGGCTCGGAGCTTCTCCG	0.572																																						ENST00000298317.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17						c.(148-150)ctC>ctG		RNA pseudouridylate synthase domain containing 4							147	156	153					11																	126081384		2201	4299	6500	SO:0001819	synonymous_variant	84881				pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding	g.chr11:126081384G>C	BC014131	CCDS8469.1, CCDS53721.1	11q24.2	2013-02-11			ENSG00000165526	ENSG00000165526		"RNA pseudouridylate synthase domain containing"	25898	protein-coding gene	gene with protein product							Standard	NM_032795		Approved	FLJ14494	uc001qde.3	Q96CM3	OTTHUMG00000165815	ENST00000298317.4:c.150C>G	11.37:g.126081384G>C						RPUSD4_ENST00000533628.1_Silent_p.L50L|FAM118B_ENST00000533050.1_5'UTR	p.L50L	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)	1	203	-	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	50					E9PML2|Q96K56	Silent	SNP	ENST00000298317.4	37	c.150C>G	CCDS8469.1																																																																																				0.572	RPUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386336.1	NM_032795		14	292	0	0	0	1	0	14	292					C	126081384	G	C	126081384	2	2	266	1	0	0	0	0	0	0	0	1	13669	1161	41	4		4	RPUSD4	11	126081384	Silent	SNP	G	TCGA-EL-A4K9-01A-11D-A257-08	54821488	126081384	8925132	17	5733											
ITPR2	3709	broad.mit.edu	37	chr12	26732960	26732960	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgcaattgtttaacttacCtggaggctggtactattgtc	9	7	0	0			TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr12:26732960C>T	ENST00000381340.3	-	33	4925	c.4509G>A	c.(4507-4509)caG>caA	p.Q1503Q		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1503					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TTTAACTTACCTGGAGGCTGG	0.368																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.e33+1		inositol 1,4,5-trisphosphate receptor, type 2							97	88	91					12																	26732960		1811	4070	5881	SO:0001630	splice_region_variant	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26732960C>T	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.4509+1G>A	12.37:g.26732960C>T							p.Q1503_splice	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			33	4925	-	Colorectal(261;0.0847)		1503					O94773	Splice_Site	SNP	ENST00000381340.3	37	c.4509_splice	CCDS41764.1																																																																																				0.368	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223	Silent	23	49	0	0	0	1	0	23	49					T	26732960	C	T	26732960	5	4	266	1	0	0	0	0	0	0	1	0	7921	695	24	2	3696	2	ITPR2	12	26732960	Splice_Site	SNP	C	TCGA-EL-A4K9-01A-11D-A257-08		26732960	107118935	18	5734											
DDX23	9416	broad.mit.edu	37	chr12	49229995	49229995	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtctcagccacaccaatgaTgtcacgattctgtagcccaa	7	13	3	1			TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr12:49229995T>C	ENST00000308025.3	-	11	1370	c.1291A>G	c.(1291-1293)Atc>Gtc	p.I431V	DDX23_ENST00000553182.1_5'Flank	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	431	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						ACACCAATGATGTCACGATTC	0.507																																						ENST00000308025.3																			0				NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						c.(1291-1293)Atc>Gtc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 23							197	182	187					12																	49229995		2203	4300	6503	SO:0001583	missense	9416					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	g.chr12:49229995T>C	AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"DEAD-boxes"	17347	protein-coding gene	gene with protein product		612172	"PRP28 homolog, yeast"			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.1291A>G	12.37:g.49229995T>C	ENSP00000310723:p.Ile431Val						p.I431V	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN			11	1370	-			431			Helicase ATP-binding.		B2R600|B4DH15|O43188	Missense_Mutation	SNP	ENST00000308025.3	37	c.1291A>G	CCDS8770.1	.	.	.	.	.	.	.	.	.	.	T	14.33	2.503802	0.44558	.	.	ENSG00000174243	ENST00000308025	T	0.10573	2.86	5.49	5.49	0.81192	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.07683	0.0193	N	0.10837	0.055	0.80722	D	1	P	0.35700	0.516	B	0.39771	0.309	T	0.48246	-0.9052	10	0.15952	T	0.53	-11.6761	14.5545	0.68091	0.0:0.0:0.0:1.0	.	431	Q9BUQ8	DDX23_HUMAN	V	431	ENSP00000310723:I431V	ENSP00000310723:I431V	I	-	1	0	DDX23	47516262	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.909000	0.87444	2.079000	0.62486	0.459000	0.35465	ATC		0.507	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818		50	114	0	0	0	1	0	50	114					C	49229995	T	C	49229995	3	2	266	1	0	0	0	0	1	0	0	0	4350	1464	51	3	1199	3	DDX23	12	49229995	Missense_Mutation	SNP	T	TCGA-EL-A4K9-01A-11D-A257-08	22497035	49229995	84621900	19	5735											
SCN8A	6334	broad.mit.edu	37	chr12	52184279	52184279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacagaaacctattccccGccccttggtaagtgcattgt	8	14	0	1			TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr12:52184279G>A	ENST00000354534.6	+	25	4695	c.4517G>A	c.(4516-4518)cGc>cAc	p.R1506H	SCN8A_ENST00000545061.1_Missense_Mutation_p.R1465H	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1506					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	CCTATTCCCCGCCCCTTGGTA	0.458																																						ENST00000354534.5																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(4516-4518)cGc>cAc		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						47	46	46					12																	52184279		1985	4198	6183	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52184279G>A	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.4517G>A	12.37:g.52184279G>A	ENSP00000346534:p.Arg1506His					SCN8A_ENST00000545061.1_Missense_Mutation_p.R1465H	p.R1506H	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	25	4695	+			1506					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.4517G>A	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762644	0.89932	.	.	ENSG00000196876	ENST00000354534;ENST00000545061;ENST00000355133	D;D;D	0.96716	-4.1;-4.04;-3.83	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	D	0.98601	0.9532	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.65140	0.932	D	0.99686	1.1000	10	0.87932	D	0	.	17.8666	0.88796	0.0:0.0:1.0:0.0	.	1506	Q9UQD0	SCN8A_HUMAN	H	1506;1465;1465	ENSP00000346534:R1506H;ENSP00000440360:R1465H;ENSP00000347255:R1465H	ENSP00000346534:R1506H	R	+	2	0	SCN8A	50470546	1.000000	0.71417	0.992000	0.48379	0.865000	0.49528	9.657000	0.98554	2.519000	0.84933	0.650000	0.86243	CGC		0.458	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		18	19	0	0	0	1	0	18	19					A	52184279	G	A	52184279	3	1	266	1	0	0	0	0	1	0	0	0	13924	1087	38	1	4611	1	SCN8A	12	52184279	Missense_Mutation	SNP	G	TCGA-EL-A4K9-01A-11D-A257-08	2954284	52184279	81667616	20	5736											
GGA3	23163	broad.mit.edu	37	chr17	73236447	73236447	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcaggtgccactggctgttCccagctgactctttgggagg	14	11	1	1			TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr17:73236447C>T	ENST00000245541.6	-	12	1455	c.1239G>A	c.(1237-1239)ggG>ggA	p.G413G	GGA3_ENST00000538886.1_Silent_p.G291G|GGA3_ENST00000578348.1_Silent_p.G291G|GGA3_ENST00000351904.7_Silent_p.G380G|GGA3_ENST00000582486.1_Silent_p.G341G|GGA3_ENST00000582717.1_Silent_p.G341G	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	413	Unstructured hinge.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			ACTGGCTGTTCCCAGCTGACT	0.577																																						ENST00000245541.6																			0				breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20						c.(1237-1239)ggG>ggA		golgi-associated, gamma adaptin ear containing, ARF binding protein 3							44	38	40					17																	73236447		2202	4300	6502	SO:0001819	synonymous_variant	23163				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	g.chr17:73236447C>T	AF190864	CCDS11716.1, CCDS11717.1, CCDS54164.1, CCDS58597.1	17q25	2010-02-12	2010-02-12			ENSG00000125447			17079	protein-coding gene	gene with protein product		606006				10747089, 10749927	Standard	NR_033345		Approved	KIAA0154	uc002jni.2	Q9NZ52		ENST00000245541.6:c.1239G>A	17.37:g.73236447C>T						GGA3_ENST00000578348.1_Silent_p.G291G|GGA3_ENST00000538886.1_Silent_p.G291G|GGA3_ENST00000351904.7_Silent_p.G380G|GGA3_ENST00000582717.1_Silent_p.G341G|GGA3_ENST00000582486.1_Silent_p.G341G	p.G413G	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)		12	1455	-			413			Unstructured hinge.		B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3	Silent	SNP	ENST00000245541.6	37	c.1239G>A	CCDS11717.1																																																																																				0.577	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446645.1	NM_138619		5	8	0	0	0	1	0	5	8					T	73236447	C	T	73236447	2	4	266	1	0	0	0	0	0	0	0	1	6354	842	30	2		2	GGA3	17	73236447	Silent	SNP	C	TCGA-EL-A4K9-01A-11D-A257-08		73236447	7958763	21	5737											
TMPRSS15	5651	broad.mit.edu	37	chr21	19737548	19737548	+	Frame_Shift_Del	DEL	T	T	-													tgatccagttaacaaaaatcTtccatcacaaactgtggctg							TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr21:19737548delT	ENST00000284885.3	-	7	715	c.682delA	c.(682-684)agafs	p.R228fs		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	228	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					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						AACAAAAATCTTCCATCACAA	0.378																																						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.(682-684)gafs		transmembrane protease, serine 15							116	110	112					21																	19737548		2203	4300	6503	SO:0001589	frameshift_variant	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19737548delT		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.682delA	21.37:g.19737548delT	ENSP00000284885:p.Arg228fs						p.R228fs	NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN			7	715	-			228			CUB 1.		Q2NKL7	Frame_Shift_Del	DEL	ENST00000284885.3	37	c.682delA	CCDS13571.1																																																																																				0.378	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		36	77						36	77	---	---	---	---	-	19737548	T	-	19737548	7	5	266	1	0	1	0	1	0	0	0	0	16243	1617	56	0	2453	0	TMPRSS15	21	19737548	Frame_Shift_Del	DEL	T	TCGA-EL-A4K9-01A-11D-A257-08		19737548	28392347	22	5738											
DOCK7	85440	broad.mit.edu	37	chr1	63042965	63042965	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tacagaataagcctgtggtgGtttttccaatgagactggca	11	7	0	2			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr1:63042965G>C	ENST00000340370.5	-	18	2097	c.2080C>G	c.(2080-2082)Cca>Gca	p.P694A	DOCK7_ENST00000251157.5_Missense_Mutation_p.P694A	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	694	DHR-1.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GCCTGTGGTGGTTTTTCCAAT	0.373																																						ENST00000251157.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(2080-2082)Cca>Gca		dedicator of cytokinesis 7							74	73	73					1																	63042965		2203	4300	6503	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63042965G>C		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.2080C>G	1.37:g.63042965G>C	ENSP00000340742:p.Pro694Ala					DOCK7_ENST00000340370.5_Missense_Mutation_p.P694A	p.P694A	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN			18	2113	-			694			DHR-1.		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.2080C>G	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340714	0.81911	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370	T;T	0.14022	2.54;2.54	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.44008	0.1273	M	0.86343	2.81	0.80722	D	1	D;P;D;D	0.69078	0.997;0.843;0.968;0.969	D;P;P;P	0.72075	0.976;0.473;0.775;0.615	T	0.43475	-0.9389	10	0.42905	T	0.14	.	18.5867	0.91192	0.0:0.0:1.0:0.0	.	694;694;694;694	Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.	A	694	ENSP00000251157:P694A;ENSP00000340742:P694A	ENSP00000251157:P694A	P	-	1	0	DOCK7	62815553	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	9.657000	0.98554	2.623000	0.88846	0.467000	0.42956	CCA		0.373	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		15	36	0	0	0	1	0	15	36					C	63042965	G	C	63042965	3	2	267	1	0	0	0	0	1	0	0	0	4692	1261	44	4	4377	4	DOCK7	1	63042965	Missense_Mutation	SNP	G	TCGA-EL-A4KD-01A-11D-A257-08		63042965	186207656	1	5739											
PDE4DIP	9659	broad.mit.edu	37	chr1	144906087	144906087	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcggtttcctgaaatttctTgaccctgggattctactgaa	8	9	2	3			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr1:144906087T>C	ENST00000369354.3	-	19	2735	c.2546A>G	c.(2545-2547)cAa>cGa	p.Q849R	PDE4DIP_ENST00000529945.1_Missense_Mutation_p.Q1012R|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.Q636R|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.Q849R|PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.Q849R|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q915R|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q849R|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.Q1012R|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q986R|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.Q986R			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	849					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGAAATTTCTTGACCCTGGGA	0.353			T	PDGFRB	MPD																																	ENST00000529945.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(3034-3036)cAa>cGa		phosphodiesterase 4D interacting protein							77	81	79					1																	144906087		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144906087T>C	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.2546A>G	1.37:g.144906087T>C	ENSP00000358360:p.Gln849Arg					PDE4DIP_ENST00000369359.4_Missense_Mutation_p.Q986R|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q915R|PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.Q636R|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q986R|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.Q849R|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.Q1012R|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.Q849R|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.Q849R|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q849R	p.Q1012R			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	15	3474	-			849					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.3035A>G	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	T	15.59	2.878364	0.51801	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.12039	4.71;4.84;4.84;4.84;4.83;3.85;3.85;2.76;2.74;2.72	5.6	4.41	0.53225	.	.	.	.	.	T	0.08802	0.0218	L	0.29908	0.895	0.80722	D	1	P;P;P;D;D	0.65815	0.914;0.944;0.929;0.985;0.995	B;P;P;P;P	0.58721	0.395;0.548;0.503;0.786;0.844	T	0.21861	-1.0233	9	0.15499	T	0.54	.	9.146	0.36933	0.0:0.0:0.1838:0.8162	.	1012;849;1012;915;849	E9PL24;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;MYOME_HUMAN	R	915;849;849;1012;986;986;849;849;1012;1012;636	ENSP00000327209:Q915R;ENSP00000358360:Q849R;ENSP00000358363:Q849R;ENSP00000435654:Q986R;ENSP00000358366:Q986R;ENSP00000358357:Q849R;ENSP00000358355:Q849R;ENSP00000316434:Q1012R;ENSP00000433392:Q1012R;ENSP00000436791:Q636R	ENSP00000327209:Q915R	Q	-	2	0	PDE4DIP	143617444	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.104000	0.50306	2.171000	0.68590	0.467000	0.42956	CAA		0.353	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		10	98	0	0	0	1	0	10	98					C	144906087	T	C	144906087	3	2	267	1	0	0	0	0	1	0	0	0	11643	1812	63	3	4608	3	PDE4DIP	1	144906087	Missense_Mutation	SNP	T	TCGA-EL-A4KD-01A-11D-A257-08	81863122	144906087	104344534	2	5740											
S100A7	6278	broad.mit.edu	37	chr1	153430333	153430333	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatggctctgcttgtggtaGtctgtggctatgtctcccag	12	11	3	0			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr1:153430333G>T	ENST00000368723.3	-	3	365	c.255C>A	c.(253-255)gaC>gaA	p.D85E	S100A7_ENST00000368722.1_Missense_Mutation_p.D85E	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	85	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				angiogenesis (GO:0001525)|defense response to Gram-negative bacterium (GO:0050829)|epidermis development (GO:0008544)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of granulocyte chemotaxis (GO:0071624)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of T cell chemotaxis (GO:0010820)|response to lipopolysaccharide (GO:0032496)|response to reactive oxygen species (GO:0000302)|sequestering of metal ion (GO:0051238)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|RAGE receptor binding (GO:0050786)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTTGTGGTAGTCTGTGGCTA	0.512																																						ENST00000368723.3																			0				breast(1)|large_intestine(2)|lung(5)|skin(2)	10						c.(253-255)gaC>gaA		S100 calcium binding protein A7							99	88	91					1																	153430333		2203	4300	6503	SO:0001583	missense	6278				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding	g.chr1:153430333G>T	BC034687	CCDS1039.1	1q21	2013-01-10	2006-09-11		ENSG00000143556	ENSG00000143556		"S100 calcium binding proteins", "EF-hand domain containing"	10497	protein-coding gene	gene with protein product		600353	"S100 calcium-binding protein A7 (psoriasin 1)", "S100 calcium binding protein A7 (psoriasin 1)"	PSOR1		1940442	Standard	NM_002963		Approved	S100A7c	uc001fbv.1	P31151	OTTHUMG00000013123	ENST00000368723.3:c.255C>A	1.37:g.153430333G>T	ENSP00000357712:p.Asp85Glu					S100A7_ENST00000368722.1_Missense_Mutation_p.D85E	p.D85E	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	365	-	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		85			EF-hand 2.		Q5SY67|Q6FGE3|Q9H1E2	Missense_Mutation	SNP	ENST00000368723.3	37	c.255C>A	CCDS1039.1	.	.	.	.	.	.	.	.	.	.	.	9.037	0.988711	0.18966	.	.	ENSG00000143556	ENST00000368723;ENST00000368722	T;T	0.06218	3.33;3.33	2.15	0.207	0.15214	EF-hand-like domain (1);	.	.	.	.	T	0.01287	0.0042	L	0.53249	1.67	0.09310	N	1	P	0.43412	0.806	B	0.37091	0.241	T	0.37526	-0.9702	9	0.06625	T	0.88	.	4.2297	0.10597	0.368:0.0:0.632:0.0	.	85	P31151	S10A7_HUMAN	E	85	ENSP00000357712:D85E;ENSP00000357711:D85E	ENSP00000357711:D85E	D	-	3	2	S100A7	151696957	0.329000	0.24696	0.004000	0.12327	0.149000	0.21700	0.266000	0.18534	0.062000	0.16340	0.194000	0.17425	GAC		0.512	S100A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036789.1	NM_002963		33	55	1	0	6.84511e-11	1	7.23626e-11	33	55					T	153430333	G	T	153430333	3	4	267	1	0	0	0	0	1	0	0	0	13783	1020	36	4	54	4	S100A7	1	153430333	Missense_Mutation	SNP	G	TCGA-EL-A4KD-01A-11D-A257-08	8524246	153430333	95820288	3	5741											
TDRD5	163589	broad.mit.edu	37	chr1	179620127	179620127	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgtgacacatcctcaaaCgaagatgtctatttccatca	6	10	3	2			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr1:179620127C>T	ENST00000367614.1	+	12	2285	c.1926C>T	c.(1924-1926)aaC>aaT	p.N642N	TDRD5_ENST00000444136.1_Silent_p.N642N|TDRD5_ENST00000294848.8_Silent_p.N642N	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	642					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CATCCTCAAACGAAGATGTCT	0.413																																						ENST00000444136.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						c.(1924-1926)aaC>aaT		tudor domain containing 5							176	165	169					1																	179620127		2203	4300	6503	SO:0001819	synonymous_variant	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179620127C>T	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"Tudor domain containing"	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.1926C>T	1.37:g.179620127C>T						TDRD5_ENST00000294848.8_Silent_p.N642N|TDRD5_ENST00000367614.1_Silent_p.N642N	p.N642N	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN			12	2176	+			642					A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Silent	SNP	ENST00000367614.1	37	c.1926C>T	CCDS1332.1																																																																																				0.413	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		5	104	0	0	0	1	0	5	104					T	179620127	C	T	179620127	2	4	267	1	0	0	0	0	0	0	0	1	15730	535	19	1		1	TDRD5	1	179620127	Silent	SNP	C	TCGA-EL-A4KD-01A-11D-A257-08	26189794	179620127	69630494	4	5742											
COL6A6	131873	broad.mit.edu	37	chr3	130282318	130282318	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaaggccctgcggaaagaCggagtgaaaatcatctctgt	11	9	3	2			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr3:130282318C>T	ENST00000358511.6	+	2	502	c.471C>T	c.(469-471)gaC>gaT	p.D157D	COL6A6_ENST00000453409.2_Silent_p.D157D	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	157	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 matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.D157D(1)		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						TGCGGAAAGACGGAGTGAAAA	0.493																																						ENST00000358511.6																			1	Substitution - coding silent(1)	p.D157D(1)	large_intestine(1)	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.(469-471)gaC>gaT		collagen, type VI, alpha 6							57	57	57					3																	130282318		1923	4123	6046	SO:0001819	synonymous_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130282318C>T	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.471C>T	3.37:g.130282318C>T						COL6A6_ENST00000453409.2_Silent_p.D157D	p.D157D	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			2	502	+			157			Nonhelical region.|VWFA 1.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	c.471C>T	CCDS46911.1																																																																																				0.493	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		4	39	0	0	0	1	0	4	39					T	130282318	C	T	130282318	2	4	267	1	0	0	0	0	0	0	0	1	3703	535	19	1		1	COL6A6	3	130282318	Silent	SNP	C	TCGA-EL-A4KD-01A-11D-A257-08		130282318	67740112	5	5743											
GABRA2	2555	broad.mit.edu	37	chr4	46314729	46314729	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaagaaaacatcaattgtaTattcctgaaataaaaaatag	5	4	1	2			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr4:46314729T>C	ENST00000510861.1	-	5	433	c.260A>G	c.(259-261)tAt>tGt	p.Y87C	GABRA2_ENST00000514090.1_Missense_Mutation_p.Y87C|GABRA2_ENST00000507069.1_Missense_Mutation_p.Y87C|GABRA2_ENST00000356504.1_Missense_Mutation_p.Y87C|GABRA2_ENST00000515082.1_Missense_Mutation_p.Y87C|GABRA2_ENST00000540012.1_Missense_Mutation_p.Y32C|GABRA2_ENST00000381620.4_Missense_Mutation_p.Y87C			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	87					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					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)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	ATCAATTGTATATTCCTGAAA	0.249																																						ENST00000510861.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56						c.(259-261)tAt>tGt		gamma-aminobutyric acid (GABA) A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						20	21	21					4																	46314729		2150	4279	6429	SO:0001583	missense	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46314729T>C		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4076	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 2"	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.260A>G	4.37:g.46314729T>C	ENSP00000421828:p.Tyr87Cys					GABRA2_ENST00000540012.1_Missense_Mutation_p.Y32C|GABRA2_ENST00000514090.1_Missense_Mutation_p.Y87C|GABRA2_ENST00000381620.4_Missense_Mutation_p.Y87C|GABRA2_ENST00000356504.1_Missense_Mutation_p.Y87C|GABRA2_ENST00000515082.1_Missense_Mutation_p.Y87C|GABRA2_ENST00000507069.1_Missense_Mutation_p.Y87C	p.Y87C			P47869	GBRA2_HUMAN			5	433	-			87					A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	c.260A>G	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	T	18.48	3.633857	0.67130	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069;ENST00000515082;ENST00000503806;ENST00000506961	T;T;T;T;T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33;-1.33;-1.33;-1.33;-1.33	5.95	5.95	0.96441	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.93252	0.7850	H	0.96691	3.865	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.993;1.0	D	0.95272	0.8378	10	0.87932	D	0	.	15.5881	0.76502	0.0:0.0:0.0:1.0	.	32;87;87	B7Z1H8;G5E9Z6;P47869	.;.;GBRA2_HUMAN	C	87;87;87;87;32;87;87;87;87	ENSP00000421828:Y87C;ENSP00000421300:Y87C;ENSP00000371033:Y87C;ENSP00000348897:Y87C;ENSP00000444409:Y32C;ENSP00000427603:Y87C;ENSP00000423840:Y87C;ENSP00000424362:Y87C;ENSP00000424093:Y87C	ENSP00000348897:Y87C	Y	-	2	0	GABRA2	46009486	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	8.040000	0.89188	2.272000	0.75746	0.460000	0.39030	TAT		0.249	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			5	24	0	0	0	1	0	5	24					C	46314729	T	C	46314729	3	2	267	1	0	0	0	0	1	0	0	0	6161	1406	49	3	1119	3	GABRA2	4	46314729	Missense_Mutation	SNP	T	TCGA-EL-A4KD-01A-11D-A257-08		46314729	144839547	6	5744											
NDST4	64579	broad.mit.edu	37	chr4	115998001	115998001	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataggtttaactgttttcagCtccattgacctatatggtag	8	7	1	1			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr4:115998001C>T	ENST00000264363.2	-	2	870	c.192G>A	c.(190-192)gaG>gaA	p.E64E		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	64	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CTGTTTTCAGCTCCATTGACC	0.408																																						ENST00000264363.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(190-192)gaG>gaA		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							150	173	165					4																	115998001		2203	4300	6503	SO:0001819	synonymous_variant	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115998001C>T	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"Sulfotransferases, membrane-bound"	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.192G>A	4.37:g.115998001C>T							p.E64E	NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	2	870	-		Ovarian(17;0.156)	64			Heparan sulfate N-deacetylase 4.		Q2KHM8	Silent	SNP	ENST00000264363.2	37	c.192G>A	CCDS3706.1																																																																																				0.408	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		7	69	0	0	0	1	0	7	69					T	115998001	C	T	115998001	2	4	267	1	0	0	0	0	0	0	0	1	10258	796	28	2		2	NDST4	4	115998001	Silent	SNP	C	TCGA-EL-A4KD-01A-11D-A257-08	69683272	115998001	75156275	7	5745											
HOXA10	3206	broad.mit.edu	37	chr7	27211780	27211780	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagttggctgcgttttcaCctttggaattgcctggcatg	12	10	1	0			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr7:27211780C>T	ENST00000283921.4	-	2	970	c.971G>A	c.(970-972)gGt>gAt	p.G324D	HOXA10_ENST00000521421.1_5'UTR|HOXA-AS4_ENST00000519935.1_RNA|RP1-170O19.20_ENST00000470747.4_Intron|HOXA-AS4_ENST00000523790.1_RNA|HOXA9_ENST00000497089.1_5'Flank|HOXA10_ENST00000396344.4_Missense_Mutation_p.G8D|RP1-170O19.20_ENST00000465941.1_Intron|MIR196B_ENST00000384852.1_RNA|HOXA-AS4_ENST00000519694.1_RNA	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10	324					anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|male gonad development (GO:0008584)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|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)			breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						TGCGTTTTCACCTTTGGAATT	0.547																																						ENST00000283921.4																			0				breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						c.(970-972)gGt>gAt		homeobox A10							69	65	66					7																	27211780		2203	4300	6503	SO:0001583	missense	3206				spermatogenesis		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27211780C>T		CCDS5410.2	7p15.2	2011-06-20	2005-12-22		ENSG00000253293	ENSG00000253293		"Homeoboxes / ANTP class : HOXL subclass"	5100	protein-coding gene	gene with protein product		142957	"homeo box A10"	HOX1H, HOX1		1973146, 1358459	Standard	NR_037939		Approved		uc011jzm.2	P31260	OTTHUMG00000023436	ENST00000283921.4:c.971G>A	7.37:g.27211780C>T	ENSP00000283921:p.Gly324Asp					HOXA10_ENST00000396344.4_Missense_Mutation_p.G8D|HOXA10_ENST00000521421.1_5'UTR|RP1-170O19.20_ENST00000470747.4_Intron|RP1-170O19.20_ENST00000465941.1_Intron	p.G324D	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN			2	970	-			324					O43370|O43605|Q15949|Q504T1	Missense_Mutation	SNP	ENST00000283921.4	37	c.971G>A	CCDS5410.2	.	.	.	.	.	.	.	.	.	.	C	8.194	0.796632	0.16327	.	.	ENSG00000253293	ENST00000283921;ENST00000396344	D;D	0.94723	-2.89;-3.5	5.7	5.7	0.88788	Homeodomain-related (1);Homeodomain-like (1);	0.100502	0.41605	D	0.000842	D	0.90638	0.7064	L	0.34521	1.04	0.38286	D	0.942573	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	D	0.86889	0.2047	10	0.10636	T	0.68	.	19.8362	0.96658	0.0:1.0:0.0:0.0	.	324;8	P31260;Q504T1	HXA10_HUMAN;.	D	324;8	ENSP00000283921:G324D;ENSP00000379633:G8D	ENSP00000283921:G324D	G	-	2	0	HOXA10	27178305	0.998000	0.40836	1.000000	0.80357	0.979000	0.70002	2.218000	0.42889	2.690000	0.91761	0.563000	0.77884	GGT		0.547	HOXA10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358724.2			4	62	0	0	0	1	0	4	62					T	27211780	C	T	27211780	3	4	267	1	0	0	0	0	1	0	0	0	7289	507	18	2	265	2	HOXA10	7	27211780	Missense_Mutation	SNP	C	TCGA-EL-A4KD-01A-11D-A257-08		27211780	131926883	8	5746											
IRF5	3663	broad.mit.edu	37	chr7	128588791	128588791	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtcccagcagcggttgcaGcctgtggcccaggcccctcc	12	18	0	0			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr7:128588791G>T	ENST00000402030.2	+	9	1488	c.1416G>T	c.(1414-1416)caG>caT	p.Q472H	IRF5_ENST00000473745.1_Missense_Mutation_p.Q472H|IRF5_ENST00000357234.5_Missense_Mutation_p.Q488H|IRF5_ENST00000249375.4_Missense_Mutation_p.Q472H|IRF5_ENST00000477535.1_Missense_Mutation_p.Q386H	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	472					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						AGCGGTTGCAGCCTGTGGCCC	0.597																																						ENST00000402030.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						c.(1414-1416)caG>caT		interferon regulatory factor 5							68	71	70					7																	128588791		2203	4300	6503	SO:0001583	missense	3663				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:128588791G>T		CCDS5808.1, CCDS43645.1, CCDS56512.1	7q32	2008-07-18			ENSG00000128604	ENSG00000128604			6120	protein-coding gene	gene with protein product		607218					Standard	XM_005250317		Approved		uc003vog.3	Q13568	OTTHUMG00000158410	ENST00000402030.2:c.1416G>T	7.37:g.128588791G>T	ENSP00000385352:p.Gln472His					IRF5_ENST00000249375.4_Missense_Mutation_p.Q472H|IRF5_ENST00000477535.1_Missense_Mutation_p.Q386H|IRF5_ENST00000473745.1_Missense_Mutation_p.Q472H|IRF5_ENST00000357234.5_Missense_Mutation_p.Q488H	p.Q472H	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN			9	1488	+			472					A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Missense_Mutation	SNP	ENST00000402030.2	37	c.1416G>T	CCDS5808.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.385739	0.42308	.	.	ENSG00000128604	ENST00000357234;ENST00000477535;ENST00000402030;ENST00000249375;ENST00000473745;ENST00000412326	D;D;D;D;D	0.97455	-4.39;-4.37;-4.39;-4.39;-4.39	5.87	4.04	0.47022	SMAD domain-like (1);SMAD/FHA domain (1);	0.139842	0.32640	N	0.005822	D	0.93812	0.8021	L	0.47716	1.5	0.28953	N	0.890291	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.10450	0.001;0.001;0.005	D	0.88993	0.3416	10	0.52906	T	0.07	-2.4908	6.8101	0.23799	0.1526:0.1483:0.6991:0.0	.	386;472;488	E7EW54;Q13568;Q13568-2	.;IRF5_HUMAN;.	H	488;386;472;472;472;462	ENSP00000349770:Q488H;ENSP00000419950:Q386H;ENSP00000385352:Q472H;ENSP00000249375:Q472H;ENSP00000419149:Q472H	ENSP00000249375:Q472H	Q	+	3	2	IRF5	128376027	0.999000	0.42202	0.998000	0.56505	0.998000	0.95712	1.411000	0.34702	1.473000	0.48159	0.655000	0.94253	CAG		0.597	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350934.1	NM_001098627		39	72	1	0	1.36161e-19	1	1.48176e-19	39	72					T	128588791	G	T	128588791	3	4	267	1	0	0	0	0	1	0	0	0	7833	962	34	4	1494	4	IRF5	7	128588791	Missense_Mutation	SNP	G	TCGA-EL-A4KD-01A-11D-A257-08	101377011	128588791	30549872	9	5747											
B4GALNT3	283358	broad.mit.edu	37	chr12	667249	667249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaggctggcatagacctcGtgaaggtaaagggcctggat	14	8	1	2	rs539329065		TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr12:667249G>A	ENST00000266383.5	+	17	2615	c.2602G>A	c.(2602-2604)Gtg>Atg	p.V868M		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	868					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CATAGACCTCGTGAAGGTAAA	0.547													G|||	1	0.000199681	8e-04	0	5008	,	,		22200	0		0	False		,,,				2504	0					ENST00000266383.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(2602-2604)Gtg>Atg		beta-1,4-N-acetyl-galactosaminyl transferase 3							65	64	64					12																	667249		2203	4300	6503	SO:0001583	missense	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:667249G>A	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"Beta 4-glycosyltransferases"	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.2602G>A	12.37:g.667249G>A	ENSP00000266383:p.Val868Met						p.V868M	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		17	2615	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		868					Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	c.2602G>A	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.223582	0.79576	.	.	ENSG00000139044	ENST00000266383	T	0.35605	1.3	4.97	4.97	0.65823	.	0.179894	0.48286	D	0.000189	T	0.64972	0.2647	M	0.83603	2.65	0.50039	D	0.999843	D	0.89917	1.0	D	0.77557	0.99	T	0.70949	-0.4733	10	0.72032	D	0.01	-23.0392	18.6071	0.91271	0.0:0.0:1.0:0.0	.	868	Q6L9W6	B4GN3_HUMAN	M	868	ENSP00000266383:V868M	ENSP00000266383:V868M	V	+	1	0	B4GALNT3	537510	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	4.820000	0.62671	2.454000	0.82982	0.561000	0.74099	GTG		0.547	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		4	49	0	0	0	1	0	4	49					A	667249	G	A	667249	3	1	267	1	0	0	0	0	1	0	0	0	1268	1145	40	1	2668	1	B4GALNT3	12	667249	Missense_Mutation	SNP	G	TCGA-EL-A4KD-01A-11D-A257-08		667249	133184646	10	5748											
GCN1L1	10985	broad.mit.edu	37	chr12	120582584	120582584	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggctgtagccacgatttcTggcatcaacttctccaactt	7	13	3	0			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr12:120582584T>C	ENST00000300648.6	-	41	5223	c.5211A>G	c.(5209-5211)ccA>ccG	p.P1737P		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1737					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCACGATTTCTGGCATCAACT	0.517																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(5209-5211)ccA>ccG		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							182	186	185					12																	120582584		2052	4211	6263	SO:0001819	synonymous_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120582584T>C	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.5211A>G	12.37:g.120582584T>C							p.P1737P	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			41	5223	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1737					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	c.5211A>G	CCDS41847.1																																																																																				0.517	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			58	103	0	0	0	1	0	58	103					C	120582584	T	C	120582584	2	2	267	1	0	0	0	0	0	0	0	1	6299	1567	55	3		3	GCN1L1	12	120582584	Silent	SNP	T	TCGA-EL-A4KD-01A-11D-A257-08	119915335	120582584	13269311	11	5749											
IRS2	8660	broad.mit.edu	37	chr13	110438060	110438060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcgtccttggtgtagaggGcgatcaggtacttgtgcttg	14	8	1	1			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr13:110438060G>A	ENST00000375856.3	-	1	855	c.341C>T	c.(340-342)gCc>gTc	p.A114V		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	114	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GGTGTAGAGGGCGATCAGGTA	0.657																																					Melanoma(100;613 2409 40847)	ENST00000375856.3																			0				kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19						c.(340-342)gCc>gTc		insulin receptor substrate 2							35	25	29					13																	110438060		2198	4297	6495	SO:0001583	missense	8660				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	g.chr13:110438060G>A	AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"Pleckstrin homology (PH) domain containing"	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.341C>T	13.37:g.110438060G>A	ENSP00000365016:p.Ala114Val						p.A114V	NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)		1	855	-	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	114			PH.		Q96RR2|Q9BZG0|Q9Y6I5	Missense_Mutation	SNP	ENST00000375856.3	37	c.341C>T	CCDS9510.1	.	.	.	.	.	.	.	.	.	.	g	28.8	4.953054	0.92660	.	.	ENSG00000185950	ENST00000375856	T	0.74842	-0.88	3.33	3.33	0.38152	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	U	0.000002	T	0.77398	0.4124	L	0.31065	0.9	0.48975	D	0.99973	D	0.89917	1.0	D	0.91635	0.999	T	0.76623	-0.2891	10	0.36615	T	0.2	.	13.7259	0.62759	0.0:0.0:1.0:0.0	.	114	Q9Y4H2	IRS2_HUMAN	V	114	ENSP00000365016:A114V	ENSP00000365016:A114V	A	-	2	0	IRS2	109236061	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.335000	0.90031	1.742000	0.51746	0.479000	0.44913	GCC		0.657	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	NM_003749		7	9	0	0	0	1	0	7	9					A	110438060	G	A	110438060	3	1	267	1	0	0	0	0	1	0	0	0	7841	1203	42	2	3683	2	IRS2	13	110438060	Missense_Mutation	SNP	G	TCGA-EL-A4KD-01A-11D-A257-08		110438060	4731818	12	5750											
GPR139	124274	broad.mit.edu	37	chr16	20084907	20084907	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accaccaagacagcgagctgTtggctgcgaggtgggcgtgc	16	11	0	1			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr16:20084907T>A	ENST00000570682.1	-	1	332	c.32A>T	c.(31-33)aAc>aTc	p.N11I		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	11					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CAGCGAGCTGTTGGCTGCGAG	0.697																																						ENST00000570682.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						c.(31-33)aAc>aTc		G protein-coupled receptor 139							34	35	35					16																	20084907		2201	4299	6500	SO:0001583	missense	124274					integral to membrane|plasma membrane		g.chr16:20084907T>A	AY255545	CCDS32398.1	16p13.11	2012-08-21						"GPCR / Class A : Orphans"	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.32A>T	16.37:g.20084907T>A	ENSP00000458791:p.Asn11Ile						p.N11I	NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN			1	332	-			11					A8K5R9|Q86SP2|Q8TDU8	Missense_Mutation	SNP	ENST00000570682.1	37	c.32A>T	CCDS32398.1	.	.	.	.	.	.	.	.	.	.	T	15.25	2.776652	0.49786	.	.	ENSG00000180269	ENST00000326571	.	.	.	4.32	4.32	0.51571	.	0.067200	0.56097	D	0.000026	T	0.31451	0.0797	N	0.08118	0	0.37023	D	0.896304	B	0.09022	0.002	B	0.08055	0.003	T	0.30621	-0.9972	9	0.87932	D	0	-20.213	9.805	0.40789	0.0:0.0:0.0:1.0	.	11	Q6DWJ6	GP139_HUMAN	I	11	.	ENSP00000370779:N11I	N	-	2	0	GPR139	19992408	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.523000	0.35932	1.799000	0.52666	0.374000	0.22700	AAC		0.697	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		5	11	0	0	0	1	0	5	11					A	20084907	T	A	20084907	3	1	267	1	0	0	0	0	1	0	0	0	6648	1725	60	5	1037	5	GPR139	16	20084907	Missense_Mutation	SNP	T	TCGA-EL-A4KD-01A-11D-A257-08		20084907	70269846	13	5751											
NCOR1	9611	broad.mit.edu	37	chr17	15995328	15995328	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctggtagagagcatagccGctcactggggttccaattgg	14	10	1	1	rs375288132		TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr17:15995328G>A	ENST00000268712.3	-	22	3122	c.2865C>T	c.(2863-2865)agC>agT	p.S955S	NCOR1_ENST00000395848.1_Silent_p.S862S|NCOR1_ENST00000395851.1_Silent_p.S971S	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	955					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GAGCATAGCCGCTCACTGGGG	0.433																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(2863-2865)agC>agT		nuclear receptor corepressor 1		G	,,	0,4406		0,0,2203	120	118	119		2586,2913,2865	-2.5	0.7	17		119	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	NCOR1	NM_001190438.1,NM_001190440.1,NM_006311.3	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	862/915,971/2338,955/2441	15995328	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15995328G>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.2865C>T	17.37:g.15995328G>A						NCOR1_ENST00000395851.1_Silent_p.S971S|NCOR1_ENST00000395848.1_Silent_p.S862S	p.S955S	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	22	3122	-			955					B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	ENST00000268712.3	37	c.2865C>T	CCDS11175.1																																																																																				0.433	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		7	86	0	0	0	1	0	7	86					A	15995328	G	A	15995328	2	1	267	1	0	0	0	0	0	0	0	1	10235	1078	38	1		1	NCOR1	17	15995328	Silent	SNP	G	TCGA-EL-A4KD-01A-11D-A257-08		15995328	65199882	14	5752											
SLC9A3R1	9368	broad.mit.edu	37	chr17	72759553	72759553	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcatggggacgtggtgtcCgccatcagggctggcgggga	19	10	1	0	rs531304500		TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr17:72759553C>A	ENST00000262613.5	+	3	846	c.651C>A	c.(649-651)tcC>tcA	p.S217S	SLC9A3R1_ENST00000413388.2_Silent_p.S61S	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1	217	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|bile acid secretion (GO:0032782)|cellular phosphate ion homeostasis (GO:0030643)|cellular protein localization (GO:0034613)|glutathione transport (GO:0034635)|microvillus assembly (GO:0030033)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of sodium:proton antiporter activity (GO:0032416)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|protein complex assembly (GO:0006461)|regulation of excretion (GO:0044062)|regulation of protein kinase activity (GO:0045859)|regulation of sodium:proton antiporter activity (GO:0032415)|renal absorption (GO:0070293)|renal phosphate ion absorption (GO:0097291)|renal sodium ion transport (GO:0003096)|Wnt signaling pathway (GO:0016055)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|membrane raft (GO:0045121)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle (GO:0031982)	beta-2 adrenergic receptor binding (GO:0031698)|beta-catenin binding (GO:0008013)|chloride channel regulator activity (GO:0017081)|growth factor receptor binding (GO:0070851)|PDZ domain binding (GO:0030165)|phosphatase binding (GO:0019902)|protein self-association (GO:0043621)|receptor binding (GO:0005102)			large_intestine(4)	4						ACGTGGTGTCCGCCATCAGGG	0.622																																						ENST00000262613.5																			0				large_intestine(4)	4						c.(649-651)tcC>tcA		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1							61	55	57					17																	72759553		2201	4300	6501	SO:0001819	synonymous_variant	9368				apoptosis|bile acid secretion|glutathione transport|microvillus assembly|negative regulation of cell proliferation|negative regulation of ERK1 and ERK2 cascade|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|protein complex assembly|regulation of protein kinase activity|regulation of sodium:hydrogen antiporter activity|renal absorption|Wnt receptor signaling pathway	actin cytoskeleton|apical plasma membrane|centrosome|endomembrane system|filopodium|intracellular membrane-bounded organelle|microvillus membrane|ruffle	beta-2 adrenergic receptor binding|beta-catenin binding|chloride channel regulator activity|growth factor receptor binding|PDZ domain binding|phosphatase binding|protein self-association	g.chr17:72759553C>A	AF015926	CCDS11705.1	17q25.1	2014-09-04	2012-03-22		ENSG00000109062	ENSG00000109062			11075	protein-coding gene	gene with protein product		604990	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 1", "solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 1", "solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1"			9314537, 9430655	Standard	NM_004252		Approved	NHERF, EBP50	uc002jlo.4	O14745	OTTHUMG00000178863	ENST00000262613.5:c.651C>A	17.37:g.72759553C>A						SLC9A3R1_ENST00000413388.2_Silent_p.S61S	p.S217S	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN			3	846	+			217			PDZ 2.		B3KY21|O43552|Q86WQ5	Silent	SNP	ENST00000262613.5	37	c.651C>A	CCDS11705.1																																																																																				0.622	SLC9A3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443671.1			7	14	1	0	1.12685e-05	1	1.15815e-05	7	14					A	72759553	C	A	72759553	2	1	267	1	0	0	0	0	0	0	0	1	14714	639	23	4		4	SLC9A3R1	17	72759553	Silent	SNP	C	TCGA-EL-A4KD-01A-11D-A257-08	56764225	72759553	8435657	15	5753											
ECSIT	51295	broad.mit.edu	37	chr19	11618516	11618516	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctttgctttaagccctcaCcctctcctccgggggcagca	9	16	2	0			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr19:11618516C>T	ENST00000270517.7	-	6	1081		c.e6+1		ECSIT_ENST00000591104.1_Splice_Site|ZNF653_ENST00000593191.1_5'Flank|ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000252440.7_Intron|ECSIT_ENST00000591352.1_5'Flank|ECSIT_ENST00000417981.2_Splice_Site|ZNF653_ENST00000293771.5_5'Flank|CTC-398G3.6_ENST00000585656.1_5'Flank|ECSIT_ENST00000592312.1_Splice_Site	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator						BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						TAAGCCCTCACCCTCTCCTCC	0.612																																						ENST00000270517.7																			0				kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						c.e6+1		ECSIT signalling integrator							56	46	49					19																	11618516		2203	4300	6503	SO:0001630	splice_region_variant	51295				innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding	g.chr19:11618516C>T	BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"Mitochondrial respiratory chain complex assembly factors"	29548	protein-coding gene	gene with protein product	"signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"	608388	"ECSIT homolog (Drosophila)"			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.945+1G>A	19.37:g.11618516C>T						ECSIT_ENST00000417981.2_Splice_Site|ECSIT_ENST00000592312.1_Splice_Site|ECSIT_ENST00000591104.1_Splice_Site|ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000252440.7_Intron		NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN			6	1081	-								E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Splice_Site	SNP	ENST00000270517.7	37		CCDS12262.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.662571	0.67700	.	.	ENSG00000130159	ENST00000270517;ENST00000417981	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.52	0.84311	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ECSIT	11479516	1.000000	0.71417	0.998000	0.56505	0.639000	0.38242	7.224000	0.78042	2.165000	0.68154	0.491000	0.48974	.		0.612	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442603.2	NM_016581	Intron	22	42	0	0	0	1	0	22	42					T	11618516	C	T	11618516	5	4	267	1	0	0	0	0	0	0	1	0	4900	521	18	2	361	2	ECSIT	19	11618516	Splice_Site	SNP	C	TCGA-EL-A4KD-01A-11D-A257-08		11618516	47510467	16	5754											
TMEM145	284339	broad.mit.edu	37	chr19	42821993	42821993	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgacactttcctgagaagCagcctttttatgtgcccttc	8	12	0	1			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr19:42821993C>T	ENST00000301204.3	+	12	1074	c.1033C>T	c.(1033-1035)Cag>Tag	p.Q345*	TMEM145_ENST00000598766.1_Nonsense_Mutation_p.Q369*	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	345					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				TCCTGAGAAGCAGCCTTTTTA	0.597																																						ENST00000598766.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27						c.(1105-1107)Cag>Tag		transmembrane protein 145							192	154	167					19																	42821993		2203	4300	6503	SO:0001587	stop_gained	284339					integral to membrane		g.chr19:42821993C>T	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.1033C>T	19.37:g.42821993C>T	ENSP00000301204:p.Gln345*					TMEM145_ENST00000301204.3_Nonsense_Mutation_p.Q345*	p.Q369*			Q8NBT3	TM145_HUMAN			12	1105	+		Prostate(69;0.00682)	345						Nonsense_Mutation	SNP	ENST00000301204.3	37	c.1105C>T	CCDS12603.1	.	.	.	.	.	.	.	.	.	.	C	36	5.864104	0.97043	.	.	ENSG00000167619	ENST00000301204	.	.	.	4.55	4.55	0.56014	.	0.324845	0.26594	N	0.023506	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-23.4669	15.1796	0.72945	0.0:1.0:0.0:0.0	.	.	.	.	X	345	.	ENSP00000301204:Q345X	Q	+	1	0	TMEM145	47513833	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.277000	0.72608	2.258000	0.74832	0.591000	0.81541	CAG		0.597	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633		6	70	0	0	0	1	0	6	70					T	42821993	C	T	42821993	4	4	267	1	0	0	0	0	0	1	0	0	16056	711	25	2	1079	2	TMEM145	19	42821993	Nonsense_Mutation	SNP	C	TCGA-EL-A4KD-01A-11D-A257-08	31203477	42821993	16306990	17	5755											
SEC14L2	23541	broad.mit.edu	37	chr22	30812008	30812008	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacagcagtatgaacacagCgtgcagatttcccgtggctc	10	11	0	2			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr22:30812008C>T	ENST00000312932.9	+	10	1103	c.843C>T	c.(841-843)agC>agT	p.S281S	SEC14L2_ENST00000403484.1_Silent_p.S207S|RP4-539M6.19_ENST00000439838.1_Silent_p.S115S|SEC14L2_ENST00000402592.3_Silent_p.S198S|SEC14L2_ENST00000405717.3_Silent_p.S281S	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	281	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cholesterol biosynthetic process (GO:0045540)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	ATGAACACAGCGTGCAGATTT	0.557																																						ENST00000312932.9																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10						c.(841-843)agC>agT		SEC14-like 2 (S. cerevisiae)	Vitamin E(DB00163)						101	89	93					22																	30812008		2203	4300	6503	SO:0001819	synonymous_variant	23541				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding	g.chr22:30812008C>T	AL096881	CCDS13876.1, CCDS46685.1, CCDS56228.1	22q12.2	2010-08-19	2001-11-28		ENSG00000100003	ENSG00000100003			10699	protein-coding gene	gene with protein product	"supernatant protein factor"	607558	"SEC14 (S. cerevisiae)-like 2"	C22orf6		10591208	Standard	NM_033382		Approved	TAP, SPF, KIAA1186, KIAA1658	uc003ahr.3	O76054	OTTHUMG00000151024	ENST00000312932.9:c.843C>T	22.37:g.30812008C>T						SEC14L2_ENST00000403484.1_Silent_p.S207S|SEC14L2_ENST00000402592.3_Silent_p.S198S|RP4-539M6.19_ENST00000439838.1_Silent_p.S115S|SEC14L2_ENST00000405717.3_Silent_p.S281S	p.S281S	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN			10	1103	+			281			GOLD.		B7Z8Q1|F5H3U4|Q53EQ2|Q6PD61|Q9ULN4	Silent	SNP	ENST00000312932.9	37	c.843C>T	CCDS13876.1																																																																																				0.557	SEC14L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321018.4	NM_012429		21	53	0	0	0	1	0	21	53					T	30812008	C	T	30812008	2	4	267	1	0	0	0	0	0	0	0	1	13982	767	27	1		1	SEC14L2	22	30812008	Silent	SNP	C	TCGA-EL-A4KD-01A-11D-A257-08		30812008	20492558	18	5756											
MAGED1	9500	broad.mit.edu	37	chrX	51637442	51637442	+	Frame_Shift_Del	DEL	C	C	-													ggtgcgggcctcctcggcttCcaggtgagatctccactccc							TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chrX:51637442delC	ENST00000375722.1	+	2	294	c.42delC	c.(40-42)ttcfs	p.F14fs	MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375695.2_Frame_Shift_Del_p.F14fs|MAGED1_ENST00000326587.7_Frame_Shift_Del_p.F14fs|MAGED1_ENST00000375772.3_Frame_Shift_Del_p.F14fs			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	14					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)					TCCTCGGCTTCCAGGTGAGAT	0.657										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.(40-42)ttfs		melanoma antigen family D, 1							27	24	25					X																	51637442		2203	4297	6500	SO:0001589	frameshift_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:51637442delC	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.42delC	X.37:g.51637442delC	ENSP00000364874:p.Phe14fs	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_ENST00000375722.1_Frame_Shift_Del_p.F14fs|MAGED1_ENST00000375772.3_Frame_Shift_Del_p.F14fs|MAGED1_ENST00000326587.7_Frame_Shift_Del_p.F14fs|MAGED1_ENST00000494718.1_3'UTR	p.F14fs	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN			2	195	+	Ovarian(276;0.236)		0					Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Frame_Shift_Del	DEL	ENST00000375722.1	37	c.42delC	CCDS14337.1																																																																																				0.657	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332		2	4						2	4	---	---	---	---	-	51637442	C	-	51637442	7	5	267	1	0	1	0	1	0	0	0	0	9183	854	30	0	44	0	MAGED1	23	51637442	Frame_Shift_Del	DEL	C	TCGA-EL-A4KD-01A-11D-A257-08		51637442	103633118	19	5757											
ALG13	79868	broad.mit.edu	37	chrX	110951558	110951558	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgaatatttaggcagcttAgggctgtttcgaaagctgac	12	6	0	2			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chrX:110951558A>G	ENST00000394780.3	+	4	699	c.687A>G	c.(685-687)ttA>ttG	p.L229L	ALG13_ENST00000251943.4_Silent_p.L125L|ALG13-AS1_ENST00000430794.1_RNA	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	229	Deubiquitinase activity.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						TAGGCAGCTTAGGGCTGTTTC	0.453																																						ENST00000394780.3																			0				endometrium(2)|lung(10)|skin(1)	13						c.(685-687)ttA>ttG		ALG13, UDP-N-acetylglucosaminyltransferase subunit							126	109	115					X																	110951558		1568	3582	5150	SO:0001819	synonymous_variant	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:110951558A>G	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"Tudor domain containing", "OTU domain containing"	30881	protein-coding gene	gene with protein product	"tudor domain containing 13", "N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"	300776	"glycosyltransferase 28 domain containing 1", "chromosome X open reading frame 45", "asparagine-linked glycosylation 13 homolog (S. cerevisiae)"	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.687A>G	X.37:g.110951558A>G						ALG13-AS1_ENST00000430794.1_RNA|ALG13_ENST00000251943.4_Silent_p.L125L	p.L229L	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN			4	699	+			229					B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Silent	SNP	ENST00000394780.3	37	c.687A>G	CCDS55477.1																																																																																				0.453	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		9	56	0	0	0	1	0	9	56					G	110951558	A	G	110951558	2	3	267	1	0	0	0	0	0	0	0	1	515	417	15	3		3	ALG13	23	110951558	Silent	SNP	A	TCGA-EL-A4KD-01A-11D-A257-08	59314116	110951558	44319002	20	5758											
TAS1R3	83756	broad.mit.edu	37	chr1	1269281	1269281	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcgtggagtcagaactgcctCtgagctgggcagaccggctg	15	11	2	3			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:1269281C>T	ENST00000339381.5	+	6	2028	c.1996C>T	c.(1996-1998)Ctg>Ttg	p.L666L		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	666					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	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;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		AGAACTGCCTCTGAGCTGGGC	0.677																																						ENST00000339381.5																			0				kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(1996-1998)Ctg>Ttg		taste receptor, type 1, member 3	Aspartame(DB00168)						27	29	28					1																	1269281		2200	4296	6496	SO:0001819	synonymous_variant	83756				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:1269281C>T	AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.1996C>T	1.37:g.1269281C>T							p.L666L	NM_152228.1	NP_689414.1	Q7RTX0	TS1R3_HUMAN		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	6	2028	+	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)	666					Q5TA49|Q8NGW9	Silent	SNP	ENST00000339381.5	37	c.1996C>T	CCDS30556.1																																																																																				0.677	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1			9	36	0	0	0	1	0	9	36					T	1269281	C	T	1269281	2	4	268	1	0	0	0	0	0	0	0	1	15561	912	32	2		2	TAS1R3	1	1269281	Silent	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08		1269281	247981340	1	5759											
TAS1R1	80835	broad.mit.edu	37	chr1	6635194	6635194	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagagggctgtccctggcctGaaggcgtttgaagaagccta	14	9	0	4			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:6635194G>A	ENST00000333172.6	+	3	1195	c.1002G>A	c.(1000-1002)ctG>ctA	p.L334L	TAS1R1_ENST00000328191.4_Silent_p.L334L|TAS1R1_ENST00000351136.3_Intron	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	334					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TCCCTGGCCTGAAGGCGTTTG	0.632																																						ENST00000333172.6																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(1000-1002)ctG>ctA		taste receptor, type 1, member 1							36	39	38					1																	6635194		2203	4300	6503	SO:0001819	synonymous_variant	0				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6635194G>A		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14448	protein-coding gene	gene with protein product		606225	"G protein-coupled receptor 70"	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.1002G>A	1.37:g.6635194G>A						TAS1R1_ENST00000328191.4_Silent_p.L334L|TAS1R1_ENST00000351136.3_Intron	p.L334L	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	3	1195	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	334					B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Silent	SNP	ENST00000333172.6	37	c.1002G>A	CCDS81.1																																																																																				0.632	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1			12	26	0	0	0	1	0	12	26					A	6635194	G	A	6635194	2	1	268	1	0	0	0	0	0	0	0	1	15559	1277	45	2		2	TAS1R1	1	6635194	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	5365913	6635194	242615427	2	5760											
ZNF436	80818	broad.mit.edu	37	chr1	23688762	23688762	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgagatgagagctccggctGaagcttttcccacaagcatt	10	10	0	3			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:23688762G>A	ENST00000314011.4	-	4	1249	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	ZNF436_ENST00000374608.3_Silent_p.F371F	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	371					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AGCTCCGGCTGAAGCTTTTCC	0.468																																						ENST00000314011.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						c.(1111-1113)ttC>ttT		zinc finger protein 436							100	99	99					1																	23688762		2203	4300	6503	SO:0001819	synonymous_variant	80818				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:23688762G>A	AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"Zinc fingers, C2H2-type", "-"	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232	ENST00000314011.4:c.1113C>T	1.37:g.23688762G>A						ZNF436_ENST00000374609.1_Intron|ZNF436_ENST00000374608.3_Silent_p.F371F	p.F371F	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	4	1249	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	371					Q658I9	Silent	SNP	ENST00000314011.4	37	c.1113C>T	CCDS233.1																																																																																				0.468	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008908.1	NM_030634		18	59	0	0	0	1	0	18	59					A	23688762	G	A	23688762	2	1	268	1	0	0	0	0	0	0	0	1	17906	1281	45	2		2	ZNF436	1	23688762	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	17053568	23688762	225561859	3	5761											
C1orf172	126695	broad.mit.edu	37	chr1	27278146	27278146	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctgtcagcttcttgaagatGagcacatcaatttctcggct	8	10	5	3			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:27278146G>T	ENST00000320567.5	-	2	814	c.726C>A	c.(724-726)ctC>ctA	p.L242L		NM_152365.2	NP_689578.2	Q8NAX2	KDF1_HUMAN		242					developmental growth (GO:0048589)|establishment of skin barrier (GO:0061436)|keratinocyte development (GO:0003334)|limb epidermis development (GO:0060887)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|positive regulation of epidermal cell differentiation (GO:0045606)|regulation of epidermal cell division (GO:0010482)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		TCTTGAAGATGAGCACATCAA	0.532																																						ENST00000320567.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(724-726)ctC>ctA		chromosome 1 open reading frame 172							46	43	44					1																	27278146		2203	4300	6503	SO:0001819	synonymous_variant	126695							g.chr1:27278146G>T																												ENST00000320567.5:c.726C>A	1.37:g.27278146G>T							p.L242L	NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)	2	814	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	242					Q5QP32|Q8N0S7	Silent	SNP	ENST00000320567.5	37	c.726C>A	CCDS293.1	.	.	.	.	.	.	.	.	.	.	G	6.614	0.481670	0.12581	.	.	ENSG00000175707	ENST00000374109	.	.	.	4.77	1.83	0.25207	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.1392	0.03770	0.1842:0.284:0.4051:0.1266	.	.	.	.	X	203	.	ENSP00000363223:S203X	S	-	2	0	C1orf172	27150733	0.997000	0.39634	1.000000	0.80357	0.950000	0.60333	0.308000	0.19314	0.218000	0.20820	0.555000	0.69702	TCA		0.532	C1orf172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012340.1			9	35	1	0	1.12685e-05	1	1.14272e-05	9	35					T	27278146	G	T	27278146	2	4	268	1	0	0	0	0	0	0	0	1	2013	1277	45	4		4	C1orf172	1	27278146	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	3589384	27278146	221972475	4	5762											
TMEM54	113452	broad.mit.edu	37	chr1	33363789	33363789	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctgcagagccaccgcatcttGaggggtgcccacgtagcgca	13	14	1	2			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:33363789G>C	ENST00000373463.3	-	2	267	c.148C>G	c.(148-150)Caa>Gaa	p.Q50E	TMEM54_ENST00000329151.5_Missense_Mutation_p.Q50E|TMEM54_ENST00000475208.1_5'UTR	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN	transmembrane protein 54	50						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACCGCATCTTGAGGGGTGCCC	0.617																																						ENST00000373463.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6						c.(148-150)Caa>Gaa		transmembrane protein 54							132	98	110					1																	33363789		2203	4300	6503	SO:0001583	missense	113452					integral to membrane		g.chr1:33363789G>C		CCDS371.1	1p35-p34	2008-02-05			ENSG00000121900	ENSG00000121900			24143	protein-coding gene	gene with protein product						9500206	Standard	NM_033504		Approved	CAC-1	uc001bwi.1	Q969K7	OTTHUMG00000004016	ENST00000373463.3:c.148C>G	1.37:g.33363789G>C	ENSP00000362562:p.Gln50Glu					TMEM54_ENST00000329151.5_Missense_Mutation_p.Q50E|TMEM54_ENST00000475208.1_5'UTR	p.Q50E	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN			2	267	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	50					Q6UV18|Q8IVD0|Q9UM12	Missense_Mutation	SNP	ENST00000373463.3	37	c.148C>G	CCDS371.1	.	.	.	.	.	.	.	.	.	.	G	1.538	-0.542503	0.04053	.	.	ENSG00000121900	ENST00000373463;ENST00000329151	T;T	0.41065	1.01;1.01	5.26	3.31	0.37934	.	1.054500	0.07225	N	0.861450	T	0.36276	0.0961	L	0.29908	0.895	0.09310	N	1	B;B;B	0.20164	0.034;0.004;0.042	B;B;B	0.25506	0.036;0.006;0.061	T	0.35176	-0.9799	10	0.33141	T	0.24	.	12.8304	0.57742	0.0:0.0:0.5444:0.4556	.	50;50;50	Q969K7-2;Q969K7-3;Q969K7	.;.;TMM54_HUMAN	E	50	ENSP00000362562:Q50E;ENSP00000328630:Q50E	ENSP00000328630:Q50E	Q	-	1	0	TMEM54	33136376	0.219000	0.23619	0.001000	0.08648	0.008000	0.06430	1.981000	0.40628	0.647000	0.30713	0.655000	0.94253	CAA		0.617	TMEM54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011474.1	NM_033504		19	47	0	0	0	1	0	19	47					C	33363789	G	C	33363789	3	2	268	1	0	0	0	0	1	0	0	0	16177	1299	45	4	540	4	TMEM54	1	33363789	Missense_Mutation	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	6085643	33363789	215886832	5	5763											
ELOVL1	64834	broad.mit.edu	37	chr1	43829727	43829727	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccatacatccagatgaggtGaataatgactgggtactggt	12	7	0	4			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:43829727G>A	ENST00000372458.3	-	8	817	c.700C>T	c.(700-702)Cac>Tac	p.H234Y	ELOVL1_ENST00000413844.2_Missense_Mutation_p.H207Y|ELOVL1_ENST00000470769.1_5'UTR	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	Q9BW60	ELOV1_HUMAN	ELOVL fatty acid elongase 1	234					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CAGATGAGGTGAATAATGACT	0.478																																						ENST00000372458.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4						c.(700-702)Cac>Tac		ELOVL fatty acid elongase 1							124	109	114					1																	43829727		2203	4300	6503	SO:0001583	missense	64834				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	fatty acid elongase activity|protein binding	g.chr1:43829727G>A	AK001653	CCDS485.1, CCDS57987.1	1p34	2011-05-25	2011-05-25		ENSG00000066322	ENSG00000066322			14418	protein-coding gene	gene with protein product		611813	"elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1"				Standard	NM_022821		Approved	Ssc1	uc031pmf.1	Q9BW60	OTTHUMG00000007422	ENST00000372458.3:c.700C>T	1.37:g.43829727G>A	ENSP00000361536:p.His234Tyr					ELOVL1_ENST00000413844.2_Missense_Mutation_p.H207Y|ELOVL1_ENST00000470769.1_5'UTR	p.H234Y	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	Q9BW60	ELOV1_HUMAN			8	817	-	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	234					B4DP24|Q53HT2|Q5JUY3|Q8WXU3|Q9NVD9|Q9Y396	Missense_Mutation	SNP	ENST00000372458.3	37	c.700C>T	CCDS485.1	.	.	.	.	.	.	.	.	.	.	G	5.976	0.364036	0.11296	.	.	ENSG00000066322	ENST00000372458;ENST00000413844	T;T	0.20598	2.06;2.06	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.08846	0.0219	N	0.01431	-0.87	0.80722	D	1	B;B	0.15930	0.009;0.015	B;B	0.19946	0.007;0.027	T	0.23048	-1.0199	10	0.02654	T	1	-1.4123	19.819	0.96583	0.0:0.0:1.0:0.0	.	207;234	B4DP24;Q9BW60	.;ELOV1_HUMAN	Y	234;207	ENSP00000361536:H234Y;ENSP00000416024:H207Y	ENSP00000361536:H234Y	H	-	1	0	ELOVL1	43602314	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.688000	0.91661	0.591000	0.81541	CAC		0.478	ELOVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019496.1	NM_022821		15	43	0	0	0	1	0	15	43					A	43829727	G	A	43829727	3	1	268	1	0	0	0	0	1	0	0	0	5073	1290	45	2	143	2	ELOVL1	1	43829727	Missense_Mutation	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	10465938	43829727	205420894	6	5764											
ANKRD35	148741	broad.mit.edu	37	chr1	145555755	145555755	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacaggggggatgtgggaCgcgtggctgccctggcctcc	18	12	0	0	rs201747548		TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:145555755C>T	ENST00000355594.4	+	2	190	c.103C>T	c.(103-105)Cgc>Tgc	p.R35C	ANKRD35_ENST00000544626.1_Missense_Mutation_p.R35C	NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	35										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGATGTGGGACGCGTGGCTGC	0.602																																					Melanoma(9;127 754 22988 51047)	ENST00000355594.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47						c.(103-105)Cgc>Tgc		ankyrin repeat domain 35		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	68	68	68		103	4.9	1.0	1		68	0,8600		0,0,4300	no	missense	ANKRD35	NM_144698.3	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	35/1002	145555755	1,13005	2203	4300	6503	SO:0001583	missense	148741							g.chr1:145555755C>T	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"Ankyrin repeat domain containing"	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.103C>T	1.37:g.145555755C>T	ENSP00000347802:p.Arg35Cys					ANKRD35_ENST00000544626.1_Missense_Mutation_p.R35C	p.R35C	NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN			2	190	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		35					A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	c.103C>T	CCDS919.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219169	0.79464	2.27E-4	0.0	ENSG00000198483	ENST00000355594;ENST00000544626	T;T	0.62232	0.04;0.04	5.84	4.93	0.64822	Ankyrin repeat-containing domain (4);	0.000000	0.49916	D	0.000137	T	0.26557	0.0649	N	0.10972	0.075	0.46011	D	0.998816	B	0.29627	0.252	B	0.26614	0.071	T	0.33548	-0.9864	10	0.87932	D	0	-4.847	11.1709	0.48571	0.0:0.9155:0.0:0.0845	.	35	Q8N283	ANR35_HUMAN	C	35	ENSP00000347802:R35C;ENSP00000442671:R35C	ENSP00000347802:R35C	R	+	1	0	ANKRD35	144267112	0.567000	0.26626	0.995000	0.50966	0.932000	0.56968	0.758000	0.26447	1.479000	0.48272	0.655000	0.94253	CGC		0.602	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		14	26	0	0	0	1	0	14	26					T	145555755	C	T	145555755	3	4	268	1	0	0	0	0	1	0	0	0	664	536	19	1	109	1	ANKRD35	1	145555755	Missense_Mutation	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08	101726028	145555755	103694866	7	5765											
PI4KB	5298	broad.mit.edu	37	chr1	151265367	151265367	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aggtactggaagccgtcataGagtttggtggtgatagaccg	15	6	1	3			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:151265367G>C	ENST00000368873.1	-	12	2580	c.2412C>G	c.(2410-2412)ctC>ctG	p.L804L	PI4KB_ENST00000271657.5_Silent_p.L816L|PI4KB_ENST00000368875.2_Silent_p.L816L|PI4KB_ENST00000529142.1_Silent_p.L472L|PI4KB_ENST00000368874.4_Silent_p.L789L|PI4KB_ENST00000368872.1_Silent_p.L789L			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	804					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGCCGTCATAGAGTTTGGTGG	0.587																																					Colon(154;765 1838 9854 28443 37492)	ENST00000368875.2																			0				breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27						c.(2446-2448)ctC>ctG		phosphatidylinositol 4-kinase, catalytic, beta							147	140	142					1																	151265367		2203	4300	6503	SO:0001819	synonymous_variant	5298				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr1:151265367G>C	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.2412C>G	1.37:g.151265367G>C						PI4KB_ENST00000368874.4_Silent_p.L789L|PI4KB_ENST00000271657.5_Silent_p.L816L|PI4KB_ENST00000368873.1_Silent_p.L804L|PI4KB_ENST00000368872.1_Silent_p.L789L|PI4KB_ENST00000529142.1_Silent_p.L472L	p.L816L	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		13	3028	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		804					B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Silent	SNP	ENST00000368873.1	37	c.2448C>G																																																																																					0.587	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		14	50	0	0	0	1	0	14	50					C	151265367	G	C	151265367	2	2	268	1	0	0	0	0	0	0	0	1	11874	929	33	4		4	PI4KB	1	151265367	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	5709612	151265367	97985254	8	5766											
RPTN	126638	broad.mit.edu	37	chr1	152127926	152127926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactctggccttgtctgtctGtctgaccatagtgggaactc	10	11	4	1			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:152127926G>A	ENST00000316073.3	-	3	1713	c.1649C>T	c.(1648-1650)aCa>aTa	p.T550I		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	550	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TTGTCTGTCTGTCTGACCATA	0.522																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1648-1650)aCa>aTa		repetin							730	646	672					1																	152127926		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152127926G>A	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1649C>T	1.37:g.152127926G>A	ENSP00000317895:p.Thr550Ile						p.T550I	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1713	-			550			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.1649C>T	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	G	7.729	0.698768	0.15106	.	.	ENSG00000215853	ENST00000316073;ENST00000541545	T	0.14766	2.48	4.42	1.37	0.22104	.	0.566808	0.13306	N	0.397893	T	0.06142	0.0159	M	0.81942	2.565	0.09310	N	1	B	0.19706	0.038	B	0.12156	0.007	T	0.31916	-0.9926	10	0.40728	T	0.16	0.1957	5.7557	0.18172	0.1903:0.1601:0.6496:0.0	.	550	Q6XPR3	RPTN_HUMAN	I	550;205	ENSP00000317895:T550I	ENSP00000317895:T550I	T	-	2	0	RPTN	150394550	0.032000	0.19561	0.001000	0.08648	0.018000	0.09664	1.153000	0.31676	-0.016000	0.14127	-0.476000	0.04901	ACA		0.522	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		37	702	0	0	0	1	0	37	702					A	152127926	G	A	152127926	3	1	268	1	0	0	0	0	1	0	0	0	13664	1377	48	2	709	2	RPTN	1	152127926	Missense_Mutation	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	862559	152127926	97122695	9	5767											
RPTN	126638	broad.mit.edu	37	chr1	152129034	152129034	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctctcagactgattgtggtGagaatctctgtcttgtctct	9	9	5	3			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:152129034G>A	ENST00000316073.3	-	3	605	c.541C>T	c.(541-543)Cac>Tac	p.H181Y		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	181	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGATTGTGGTGAGAATCTCTG	0.458																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(541-543)Cac>Tac		repetin							493	420	442					1																	152129034		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152129034G>A	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.541C>T	1.37:g.152129034G>A	ENSP00000317895:p.His181Tyr						p.H181Y	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	605	-			181			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.541C>T	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629945	0.46944	.	.	ENSG00000215853	ENST00000316073	T	0.13778	2.56	5.17	0.583	0.17417	.	1.160040	0.06847	N	0.796661	T	0.03178	0.0093	M	0.73217	2.22	0.09310	N	1	P	0.40144	0.704	B	0.33521	0.165	T	0.39014	-0.9634	10	0.06494	T	0.89	-0.137	3.6988	0.08375	0.306:0.0:0.5266:0.1674	.	181	Q6XPR3	RPTN_HUMAN	Y	181	ENSP00000317895:H181Y	ENSP00000317895:H181Y	H	-	1	0	RPTN	150395658	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.013000	0.13310	0.127000	0.18452	-0.402000	0.06365	CAC		0.458	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		77	307	0	0	0	1	0	77	307					A	152129034	G	A	152129034	3	1	268	1	0	0	0	0	1	0	0	0	13664	1290	45	2	1817	2	RPTN	1	152129034	Missense_Mutation	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	1108	152129034	97121587	10	5768											
RHOQ	23433	broad.mit.edu	37	chr2	46803742	46803742	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aaactttagcaagactgaatGatatgaaagaaaaacctata	6	5	0	5			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr2:46803742G>C	ENST00000238738.4	+	4	728	c.409G>C	c.(409-411)Gat>Cat	p.D137H	RP11-417F21.1_ENST00000506009.2_RNA	NM_012249.3	NP_036381.2	P17081	RHOQ_HUMAN	ras homolog family member Q	137					cellular response to insulin stimulus (GO:0032869)|cortical actin cytoskeleton organization (GO:0030866)|GTP catabolic process (GO:0006184)|insulin receptor signaling pathway (GO:0008286)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin filament (GO:0005884)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	GBD domain binding (GO:0032427)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|profilin binding (GO:0005522)			skin(2)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AAGACTGAATGATATGAAAGA	0.318																																						ENST00000238738.4																			0				skin(2)	2						c.(409-411)Gat>Cat		ras homolog family member Q							87	92	90					2																	46803742		2203	4298	6501	SO:0001583	missense	23433				cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	actin filament|cytosol|plasma membrane	GBD domain binding|GTP binding|GTPase activity|profilin binding	g.chr2:46803742G>C	M31470	CCDS33191.1	2p21	2012-02-27	2012-02-27	2004-03-24	ENSG00000119729	ENSG00000119729			17736	protein-coding gene	gene with protein product		605857	"RAS-like, family 7, member A", "ras homolog gene family, member Q"	RASL7A, ARHQ		2108320	Standard	NM_012249		Approved	TC10	uc002rva.3	P17081	OTTHUMG00000150653	ENST00000238738.4:c.409G>C	2.37:g.46803742G>C	ENSP00000238738:p.Asp137His					RP11-417F21.1_ENST00000506009.2_RNA	p.D137H	NM_012249.3	NP_036381.2	P17081	RHOQ_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		4	728	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	137					D6W5A6|Q0VGN1|Q52LS8|Q53SJ1|Q6NS39|Q6P146|Q7Z480	Missense_Mutation	SNP	ENST00000238738.4	37	c.409G>C	CCDS33191.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736178	0.69189	.	.	ENSG00000119729	ENST00000238738;ENST00000482449	T;T	0.69806	-0.43;-0.43	5.52	5.52	0.82312	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.74473	0.3721	L	0.38692	1.165	0.80722	D	1	D	0.63046	0.992	P	0.61201	0.885	T	0.76027	-0.3109	10	0.87932	D	0	.	19.6361	0.95733	0.0:0.0:1.0:0.0	.	137	P17081	RHOQ_HUMAN	H	137;58	ENSP00000238738:D137H;ENSP00000428006:D58H	ENSP00000238738:D137H	D	+	1	0	RHOQ	46657246	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.763000	0.85283	2.878000	0.98634	0.650000	0.86243	GAT		0.318	RHOQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319409.1	NM_012249		15	50	0	0	0	1	0	15	50					C	46803742	G	C	46803742	3	2	268	1	0	0	0	0	1	0	0	0	13342	1290	45	4	423	4	RHOQ	2	46803742	Missense_Mutation	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08		46803742	196395631	11	5769											
ETAA1	54465	broad.mit.edu	37	chr2	67632194	67632194	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttactacttataagaagaaaTtgagtactaatcagccatgc	6	7	1	3			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr2:67632194T>C	ENST00000272342.5	+	5	2510	c.2380T>C	c.(2380-2382)Ttg>Ctg	p.L794L	ETAA1_ENST00000462772.1_3'UTR	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	794						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TAAGAAGAAATTGAGTACTAA	0.328																																						ENST00000272342.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						c.(2380-2382)Ttg>Ctg		Ewing tumor-associated antigen 1							46	47	47					2																	67632194		2202	4296	6498	SO:0001819	synonymous_variant	54465					cytoplasm|nucleus		g.chr2:67632194T>C	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"Ewing's tumor-associated antigen 1"			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.2380T>C	2.37:g.67632194T>C						ETAA1_ENST00000462772.1_3'UTR	p.L794L	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN			5	2510	+			794					Q05BT7|Q53SC4	Silent	SNP	ENST00000272342.5	37	c.2380T>C	CCDS1882.1																																																																																				0.328	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		20	33	0	0	0	1	0	20	33					C	67632194	T	C	67632194	2	2	268	1	0	0	0	0	0	0	0	1	5267	1490	52	3		3	ETAA1	2	67632194	Silent	SNP	T	TCGA-EL-A4KG-01A-11D-A257-08	20828452	67632194	175567179	12	5770											
TCF7L1	83439	broad.mit.edu	37	chr2	85532449	85532449	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctggcctgcccacctcaggGatcccccaccctgccatcgt	8	21	1	0			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr2:85532449G>A	ENST00000282111.3	+	8	1187	c.912G>A	c.(910-912)ggG>ggA	p.G304G		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	304	Pro-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CCACCTCAGGGATCCCCCACC	0.627																																						ENST00000282111.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						c.(910-912)ggG>ggA		transcription factor 7-like 1 (T-cell specific, HMG-box)							79	77	78					2																	85532449		2203	4300	6503	SO:0001819	synonymous_variant	83439				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:85532449G>A	X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.912G>A	2.37:g.85532449G>A							p.G304G	NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN			8	1187	+			304			Pro-rich.		Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000282111.3	37	c.912G>A	CCDS1971.1																																																																																				0.627	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	NM_031283		22	55	0	0	0	1	0	22	55					A	85532449	G	A	85532449	2	1	268	1	0	0	0	0	0	0	0	1	15694	1161	41	2		2	TCF7L1	2	85532449	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	17900255	85532449	157666924	13	5771											
MST1	63891	broad.mit.edu	37	chr3	49724229	49724229	+	5'Flank	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttgtcgtccagaccttggtcGaggaacctgggggcggtaat	15	9	0	1			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr3:49724229G>T	ENST00000327697.6	+	0	0				MST1_ENST00000449682.2_Silent_p.L245L|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_5'UTR|RNF123_ENST00000432042.1_5'Flank|MST1_ENST00000383728.3_Silent_p.L170L|MST1_ENST00000545762.1_3'UTR	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123						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)		GACCTTGGTCGAGGAACCTGG	0.622																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(733-735)ctC>ctA		macrophage stimulating 1 (hepatocyte growth factor-like)							14	16	15					3																	49724229		2196	4296	6492	SO:0001631	upstream_gene_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49724229G>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		3.37:g.49724229G>T	Exception_encountered					MST1_ENST00000494828.2_5'UTR|MST1_ENST00000383728.3_Silent_p.L170L|MST1_ENST00000545762.1_3'UTR	p.L245L	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	7	1096	-			231			Kringle 2.		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Silent	SNP	ENST00000327697.6	37	c.735C>A	CCDS33758.1																																																																																				0.622	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		6	25	1	0	0.00116845	1	0.00116845	6	25					T	49724229	G	T	49724229	1	4	268	0	1	0	0	0	0	0	0	0	9890	1045	37	4		4	MST1	3	49724229	5'Flank	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08		49724229	148298201	14	5772											
PHLDB2	90102	broad.mit.edu	37	chr3	111603725	111603725	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agagccacagagaaccagctGacacctctcagcttgcctcc	8	16	1	3			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr3:111603725G>A	ENST00000431670.2	+	2	1212	c.801G>A	c.(799-801)ctG>ctA	p.L267L	PHLDB2_ENST00000393925.3_Silent_p.L267L|PHLDB2_ENST00000478922.1_Silent_p.L267L|PHLDB2_ENST00000481953.1_Silent_p.L267L|PHLDB2_ENST00000412622.1_Silent_p.L267L|PHLDB2_ENST00000393923.3_Silent_p.L294L|PHLDB2_ENST00000477695.1_Silent_p.L267L	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	267						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AGAACCAGCTGACACCTCTCA	0.478																																						ENST00000431670.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(799-801)ctG>ctA		pleckstrin homology-like domain, family B, member 2							59	58	58					3																	111603725		2203	4300	6503	SO:0001819	synonymous_variant	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111603725G>A		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"Pleckstrin homology (PH) domain containing"	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.801G>A	3.37:g.111603725G>A						PHLDB2_ENST00000481953.1_Silent_p.L267L|PHLDB2_ENST00000477695.1_Silent_p.L267L|PHLDB2_ENST00000393923.3_Silent_p.L294L|PHLDB2_ENST00000393925.3_Silent_p.L267L|PHLDB2_ENST00000412622.1_Silent_p.L267L|PHLDB2_ENST00000478922.1_Silent_p.L267L	p.L267L	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN			2	1212	+			267					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Silent	SNP	ENST00000431670.2	37	c.801G>A	CCDS46886.1																																																																																				0.478	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		18	37	0	0	0	1	0	18	37					A	111603725	G	A	111603725	2	1	268	1	0	0	0	0	0	0	0	1	11852	1277	45	2		2	PHLDB2	3	111603725	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	61879496	111603725	86418705	15	5773											
BCL6	604	broad.mit.edu	37	chr3	187443336	187443336	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atttgtagggcttctctccaGagtgaattcgagtgtgggtt	13	6	1	2			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr3:187443336G>C	ENST00000406870.2	-	8	2156	c.1790C>G	c.(1789-1791)tCt>tGt	p.S597C	RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.S541C|BCL6_ENST00000232014.4_Missense_Mutation_p.S597C|RP11-211G3.3_ENST00000437407.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	597					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)		CTTCTCTCCAGAGTGAATTCG	0.572			"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.(1789-1791)tCt>tGt		B-cell CLL/lymphoma 6							118	123	122					3																	187443336		2203	4300	6503	SO:0001583	missense	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.chr3:187443336G>C		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.1790C>G	3.37:g.187443336G>C	ENSP00000384371:p.Ser597Cys					BCL6_ENST00000450123.2_Missense_Mutation_p.S541C|BCL6_ENST00000232014.4_Missense_Mutation_p.S597C|RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron	p.S597C	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	8	2156	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		597					A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	c.1790C>G	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307051	0.81247	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.19938	2.11;2.11;2.11	5.59	5.59	0.84812	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.45776	0.1359	L	0.56769	1.78	0.58432	D	0.999994	D;P	0.89917	1.0;0.914	D;P	0.87578	0.998;0.665	T	0.34850	-0.9812	10	0.87932	D	0	.	18.5726	0.91142	0.0:0.0:1.0:0.0	.	541;597	B8PSA7;P41182	.;BCL6_HUMAN	C	597;597;541	ENSP00000384371:S597C;ENSP00000232014:S597C;ENSP00000413122:S541C	ENSP00000232014:S597C	S	-	2	0	BCL6	188926030	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.619000	0.88677	0.655000	0.94253	TCT		0.572	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		19	66	0	0	0	1	0	19	66					C	187443336	G	C	187443336	3	2	268	1	0	0	0	0	1	0	0	0	1376	942	33	4	342	4	BCL6	3	187443336	Missense_Mutation	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	75839611	187443336	10579094	16	5774											
GAK	2580	broad.mit.edu	37	chr4	853445	853445	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcaaatgggtccgggttctGagacttggtccagctggcct	14	10	1	1			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr4:853445G>A	ENST00000314167.4	-	24	3342	c.3232C>T	c.(3232-3234)Cag>Tag	p.Q1078*	GAK_ENST00000511163.1_Nonsense_Mutation_p.Q999*|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1078					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)		TCCGGGTTCTGAGACTTGGTC	0.612																																						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.(3232-3234)Cag>Tag		cyclin G associated kinase							64	68	66					4																	853445		2203	4300	6503	SO:0001587	stop_gained	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:853445G>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.3232C>T	4.37:g.853445G>A	ENSP00000314499:p.Gln1078*					GAK_ENST00000511163.1_Nonsense_Mutation_p.Q999*|GAK_ENST00000509566.1_5'UTR	p.Q1078*	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN		Colorectal(103;0.219)	24	3342	-			1078					Q5U4P5|Q9BVY6	Nonsense_Mutation	SNP	ENST00000314167.4	37	c.3232C>T	CCDS3340.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.086510|5.086510	0.94100|0.94100	.|.	.|.	ENSG00000178950|ENSG00000178950	ENST00000398567;ENST00000314167;ENST00000511163|ENST00000510799	.|T	.|0.38722	.|1.12	4.68|4.68	4.68|4.68	0.58851|0.58851	.|.	0.222797|.	0.39759|.	N|.	0.001264|.	.|T	.|0.49150	.|0.1540	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.64292	.|-0.6442	.|5	0.35671|0.72032	T|D	0.21|0.01	-28.9117|-28.9117	8.8497|8.8497	0.35192|0.35192	0.1046:0.0:0.8954:0.0|0.1046:0.0:0.8954:0.0	.|.	.|.	.|.	.|.	X|L	354;1078;999|197	.|ENSP00000426062:S197L	ENSP00000314499:Q1078X|ENSP00000426062:S197L	Q|S	-|-	1|2	0|0	GAK|GAK	843445|843445	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	5.098000|5.098000	0.64548|0.64548	2.132000|2.132000	0.65825|0.65825	0.511000|0.511000	0.50034|0.50034	CAG|TCA		0.612	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		20	68	0	0	0	1	0	20	68					A	853445	G	A	853445	4	1	268	1	0	0	0	0	0	1	0	0	6195	1299	45	2	723	2	GAK	4	853445	Nonsense_Mutation	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08		853445	190300831	17	5775											
RIOK2	55781	broad.mit.edu	37	chr5	96503564	96503564	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccacttctccatctgaaaatGagaattcagatccctctttt	4	12	4	3	rs200897705		TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr5:96503564G>A	ENST00000283109.3	-	8	1072	c.1004C>T	c.(1003-1005)tCa>tTa	p.S335L	CTD-2215E18.1_ENST00000509481.1_Intron|RIOK2_ENST00000508447.1_Missense_Mutation_p.S335L	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	335	Protein kinase.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		ATCTGAAAATGAGAATTCAGA	0.418																																						ENST00000283109.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23						c.(1003-1005)tCa>tTa		RIO kinase 2							144	151	149					5																	96503564		2203	4300	6503	SO:0001583	missense	55781						ATP binding|protein serine/threonine kinase activity	g.chr5:96503564G>A	AK002021	CCDS4089.1, CCDS54884.1	5q14	2012-12-10	2012-12-10		ENSG00000058729	ENSG00000058729			18999	protein-coding gene	gene with protein product			"RIO kinase 2 (yeast)"				Standard	NM_018343		Approved	FLJ11159	uc003kmz.3	Q9BVS4	OTTHUMG00000128723	ENST00000283109.3:c.1004C>T	5.37:g.96503564G>A	ENSP00000283109:p.Ser335Leu					RIOK2_ENST00000508447.1_Missense_Mutation_p.S335L|CTD-2215E18.1_ENST00000509481.1_Intron	p.S335L	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN		COAD - Colon adenocarcinoma(37;0.0657)	8	1072	-		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)	335			Protein kinase.		D6RDI3|Q9NUT0	Missense_Mutation	SNP	ENST00000283109.3	37	c.1004C>T	CCDS4089.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.551069	0.45383	.	.	ENSG00000058729	ENST00000283109;ENST00000508447	T;T	0.22539	1.95;1.95	5.65	4.76	0.60689	.	1.259200	0.05024	N	0.473291	T	0.28300	0.0699	L	0.56769	1.78	0.09310	N	1	B;B	0.24823	0.112;0.003	B;B	0.19666	0.026;0.002	T	0.38757	-0.9646	10	0.34782	T	0.22	-3.8624	14.2482	0.66001	0.0:0.1503:0.8497:0.0	.	335;335	D6RDI3;Q9BVS4	.;RIOK2_HUMAN	L	335	ENSP00000283109:S335L;ENSP00000420932:S335L	ENSP00000283109:S335L	S	-	2	0	RIOK2	96529320	0.156000	0.22821	0.005000	0.12908	0.254000	0.26022	3.609000	0.54117	1.336000	0.45506	0.460000	0.39030	TCA		0.418	RIOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250628.1	NM_018343		28	122	0	0	0	1	0	28	122					A	96503564	G	A	96503564	3	1	268	1	0	0	0	0	1	0	0	0	13378	1294	45	2	694	2	RIOK2	5	96503564	Missense_Mutation	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08		96503564	84411696	18	5776											
FOXP4	116113	broad.mit.edu	37	chr6	41555185	41555186	+	Frame_Shift_Ins	INS	-	-	C													ccgctccccccaaggtctcaINSccccccctctcccaccatac							TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr6:41555185_41555186insC	ENST00000307972.4	+	6	819_820	c.807_808insC	c.(808-810)cccfs	p.P270fs	FOXP4_ENST00000409208.1_Frame_Shift_Ins_p.P270fs|FOXP4_ENST00000373063.3_Frame_Shift_Ins_p.P269fs|FOXP4_ENST00000373057.3_Frame_Shift_Ins_p.P268fs|FOXP4_ENST00000373060.1_Frame_Shift_Ins_p.P270fs			Q8IVH2	FOXP4_HUMAN	forkhead box P4	270					embryonic foregut morphogenesis (GO:0048617)|heart development (GO:0007507)|lung secretory cell differentiation (GO:0061140)|negative regulation of lung goblet cell differentiation (GO:1901250)	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)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCAAGGTCTCACCCCCCCTCTC	0.678											OREG0004065	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000373060.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16						c.(805-810)tcccccfs		forkhead box P4																																				SO:0001589	frameshift_variant	116113				embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	g.chr6:41555185_41555186insC	AB080747	CCDS4856.1, CCDS34447.1, CCDS34448.1	6p21.1	2008-02-05			ENSG00000137166	ENSG00000137166		"Forkhead boxes"	20842	protein-coding gene	gene with protein product		608924					Standard	XM_006714991		Approved	FLJ40908	uc003oql.3	Q8IVH2	OTTHUMG00000014679	ENST00000307972.4:c.814dupC	6.37:g.41555192_41555192dupC	ENSP00000309823:p.Pro270fs		OREG0004065	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	902	FOXP4_ENST00000373063.3_Frame_Shift_Ins_p.SP268fs|FOXP4_ENST00000409208.1_Frame_Shift_Ins_p.SP269fs|FOXP4_ENST00000307972.4_Frame_Shift_Ins_p.SP269fs|FOXP4_ENST00000373057.3_Frame_Shift_Ins_p.SP267fs	p.SP269fs	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN			7	1265_1266	+	Ovarian(28;0.0327)|Colorectal(47;0.196)		269					Q5W098|Q7Z7F8|Q8IW55|Q96E19	Frame_Shift_Ins	INS	ENST00000307972.4	37	c.807_808insC	CCDS34447.1																																																																																				0.678	FOXP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000106767.1	NM_138457		30	67						30	67	---	---	---	---	C	41555186	-	C	41555185	7	5	268	1	0	1	1	0	0	0	0	0	6029	146	6	0	829	0	FOXP4	6	41555185	Frame_Shift_Ins	INS	-	TCGA-EL-A4KG-01A-11D-A257-08		41555185	129559882	19	5777											
DST	667	broad.mit.edu	37	chr6	56397207	56397207	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agactgagctgtttcaaaatCttcactttatctgcgggctc	8	10	4	2			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr6:56397207C>G	ENST00000361203.3	-	60	16417	c.16410G>C	c.(16408-16410)aaG>aaC	p.K5470N	DST_ENST00000421834.2_Missense_Mutation_p.K3384N|DST_ENST00000370769.4_Missense_Mutation_p.K5472N|DST_ENST00000244364.6_Missense_Mutation_p.K3058N|DST_ENST00000446842.2_Missense_Mutation_p.K5146N|DST_ENST00000370754.5_Missense_Mutation_p.K5650N|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.K3384N|DST_ENST00000340834.4_5'UTR			Q03001	DYST_HUMAN	dystonin	5470					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTTTCAAAATCTTCACTTTAT	0.398																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(16948-16950)aaG>aaC		dystonin							106	95	99					6																	56397207		1855	4096	5951	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56397207C>G	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.16410G>C	6.37:g.56397207C>G	ENSP00000354508:p.Lys5470Asn					DST_ENST00000340834.4_5'UTR|DST_ENST00000446842.2_Missense_Mutation_p.K5146N|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.K3058N|DST_ENST00000421834.2_Missense_Mutation_p.K3384N|DST_ENST00000370788.2_Missense_Mutation_p.K3384N|DST_ENST00000361203.3_Missense_Mutation_p.K5470N|DST_ENST00000370769.4_Missense_Mutation_p.K5472N	p.K5650N			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		64	16949	-	Lung NSC(77;0.103)		5470					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.16950G>C		.	.	.	.	.	.	.	.	.	.	C	14.07	2.426416	0.43020	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.48	2.76	0.32466	.	0.000000	0.52532	D	0.000077	T	0.45377	0.1339	L	0.48642	1.525	0.28083	N	0.932106	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.998	D;D;D;D;D	0.97110	0.999;1.0;0.998;0.999;0.976	T	0.46345	-0.9198	9	0.42905	T	0.14	.	10.4912	0.44752	0.0:0.7126:0.0:0.2874	.	3384;5472;5650;5470;3058	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	N	3058;5650;5472;3384;5146;3384;5470	ENSP00000244364:K3058N;ENSP00000359790:K5650N;ENSP00000359805:K5472N;ENSP00000400883:K3384N;ENSP00000393645:K5146N;ENSP00000359824:K3384N;ENSP00000354508:K5470N	ENSP00000244364:K3058N	K	-	3	2	DST	56505166	0.993000	0.37304	0.971000	0.41717	0.914000	0.54420	0.425000	0.21346	0.367000	0.24454	-0.300000	0.09419	AAG		0.398	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		4	27	0	0	0	1	0	4	27					G	56397207	C	G	56397207	3	3	268	1	0	0	0	0	1	0	0	0	4783	912	32	4	6501	4	DST	6	56397207	Missense_Mutation	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08	14842022	56397207	114717860	20	5778											
DST	667	broad.mit.edu	37	chr6	56438569	56438569	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ttccacatttcccatccagtCcagcatttcatccaagccat	3	16	1	0			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr6:56438569C>G	ENST00000361203.3	-	47	12518	c.12511G>C	c.(12511-12513)Gac>Cac	p.D4171H	DST_ENST00000421834.2_Missense_Mutation_p.D2085H|DST_ENST00000370769.4_Missense_Mutation_p.D4173H|DST_ENST00000244364.6_Missense_Mutation_p.D1759H|DST_ENST00000446842.2_Missense_Mutation_p.D3847H|DST_ENST00000370754.5_Missense_Mutation_p.D4351H|DST_ENST00000312431.6_Missense_Mutation_p.D4171H|DST_ENST00000370788.2_Missense_Mutation_p.D2085H			Q03001	DYST_HUMAN	dystonin	4171					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCCATCCAGTCCAGCATTTCA	0.403																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(13051-13053)Gac>Cac		dystonin							142	144	143					6																	56438569		1954	4146	6100	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56438569C>G	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.12511G>C	6.37:g.56438569C>G	ENSP00000354508:p.Asp4171His					DST_ENST00000446842.2_Missense_Mutation_p.D3847H|DST_ENST00000312431.6_Missense_Mutation_p.D4171H|DST_ENST00000244364.6_Missense_Mutation_p.D1759H|DST_ENST00000421834.2_Missense_Mutation_p.D2085H|DST_ENST00000370788.2_Missense_Mutation_p.D2085H|DST_ENST00000361203.3_Missense_Mutation_p.D4171H|DST_ENST00000370769.4_Missense_Mutation_p.D4173H	p.D4351H			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		51	13050	-	Lung NSC(77;0.103)		4171					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.13051G>C		.	.	.	.	.	.	.	.	.	.	C	15.64	2.892663	0.52121	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203	T;T;T;T;T;D;T;T	0.83163	1.28;1.28;1.28;1.28;1.28;-1.69;1.28;1.28	5.95	2.97	0.34412	.	0.352724	0.23652	N	0.045905	T	0.79341	0.4429	L	0.46157	1.445	0.28698	N	0.904231	P;P;P;B;B	0.49961	0.836;0.859;0.93;0.257;0.011	B;P;P;B;B	0.62014	0.347;0.687;0.897;0.143;0.014	T	0.77563	-0.2541	9	0.44086	T	0.13	.	9.0829	0.36563	0.0:0.7403:0.1196:0.1401	.	2085;4173;4351;4171;1759	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	H	1759;4351;4173;2085;3847;4171;2085;4171	ENSP00000244364:D1759H;ENSP00000359790:D4351H;ENSP00000359805:D4173H;ENSP00000400883:D2085H;ENSP00000393645:D3847H;ENSP00000307959:D4171H;ENSP00000359824:D2085H;ENSP00000354508:D4171H	ENSP00000244364:D1759H	D	-	1	0	DST	56546528	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	1.884000	0.39668	0.318000	0.23185	0.650000	0.86243	GAC		0.403	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		16	52	0	0	0	1	0	16	52					G	56438569	C	G	56438569	3	3	268	1	0	0	0	0	1	0	0	0	4783	855	30	4	10452	4	DST	6	56438569	Missense_Mutation	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08	41362	56438569	114676498	21	5779											
TBX18	9096	broad.mit.edu	37	chr6	85472299	85472299	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatcatctcagtgcctatctCatgaaagcgcttccagagct	8	12	3	2			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr6:85472299C>T	ENST00000369663.5	-	2	797	c.460G>A	c.(460-462)Gag>Aag	p.E154K	TBX18_ENST00000606521.1_5'UTR|TBX18_ENST00000606784.1_5'UTR	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	154					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GTGCCTATCTCATGAAAGCGC	0.672																																						ENST00000369663.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61						c.(460-462)Gag>Aag		T-box 18							94	98	96					6																	85472299		2203	4299	6502	SO:0001583	missense	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85472299C>T	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"T-boxes"	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.460G>A	6.37:g.85472299C>T	ENSP00000358677:p.Glu154Lys					TBX18_ENST00000606784.1_5'UTR|TBX18_ENST00000606521.1_5'UTR	p.E154K	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	2	797	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	154					A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	c.460G>A	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	C	37	6.132278	0.97310	.	.	ENSG00000112837	ENST00000416980;ENST00000369663	T	0.80393	-1.37	5.74	5.74	0.90152	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.048279	0.85682	D	0.000000	T	0.80623	0.4658	L	0.42529	1.33	0.80722	D	1	D	0.60160	0.987	P	0.59056	0.851	T	0.75342	-0.3351	10	0.22109	T	0.4	.	19.9226	0.97093	0.0:1.0:0.0:0.0	.	154	O95935	TBX18_HUMAN	K	69;154	ENSP00000358677:E154K	ENSP00000358677:E154K	E	-	1	0	TBX18	85529018	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.843000	0.69424	2.720000	0.93068	0.561000	0.74099	GAG		0.672	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		25	97	0	0	0	1	0	25	97					T	85472299	C	T	85472299	3	4	268	1	0	0	0	0	1	0	0	0	15650	835	29	2	1391	2	TBX18	6	85472299	Missense_Mutation	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08	29033730	85472299	85642768	22	5780											
BCLAF1	9774	broad.mit.edu	37	chr6	136597418	136597418	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttttaccctgatctgcgagGactgacttcctgaactgtct	8	12	2	3			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr6:136597418G>A	ENST00000531224.1	-	5	1497	c.1245C>T	c.(1243-1245)gtC>gtT	p.V415V	BCLAF1_ENST00000353331.4_Silent_p.V413V|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527536.1_Silent_p.V415V|BCLAF1_ENST00000527759.1_Silent_p.V413V|BCLAF1_ENST00000392348.2_Silent_p.V413V	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	415					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GATCTGCGAGGACTGACTTCC	0.418																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(1243-1245)gtC>gtT		BCL2-associated transcription factor 1							294	287	289					6																	136597418		2203	4300	6503	SO:0001819	synonymous_variant	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136597418G>A	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1245C>T	6.37:g.136597418G>A						BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000392348.2_Silent_p.V413V|BCLAF1_ENST00000353331.4_Silent_p.V413V|BCLAF1_ENST00000527759.1_Silent_p.V413V|BCLAF1_ENST00000527536.1_Silent_p.V415V	p.V415V	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	5	1497	-	Colorectal(23;0.24)		415					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Silent	SNP	ENST00000531224.1	37	c.1245C>T	CCDS5177.1																																																																																				0.418	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		68	290	0	0	0	1	0	68	290					A	136597418	G	A	136597418	2	1	268	1	0	0	0	0	0	0	0	1	1383	1161	41	2		2	BCLAF1	6	136597418	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	51125119	136597418	34517649	23	5781											
VTA1	51534	broad.mit.edu	37	chr6	142510607	142510607	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	agatggaaggcaacatacatCcataattgtttaaagaatgg	9	5	0	2	rs150897330	byFrequency	TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr6:142510607C>G	ENST00000367630.4	+	5	514	c.456C>G	c.(454-456)atC>atG	p.I152M	VTA1_ENST00000452973.2_Missense_Mutation_p.I94M|VTA1_ENST00000367621.1_Missense_Mutation_p.I94M|VTA1_ENST00000491881.1_3'UTR	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	152	Interaction with IST1.				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)				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		CAACATACATCCATAATTGTT	0.343																																						ENST00000367630.4																			0				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(454-456)atC>atG		vesicle (multivesicular body) trafficking 1							110	112	112					6																	142510607		2203	4300	6503	SO:0001583	missense	51534				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding	g.chr6:142510607C>G	AF060225	CCDS5197.1, CCDS69214.1, CCDS75531.1	6q24.1	2013-08-05	2013-08-05	2007-04-03	ENSG00000009844	ENSG00000009844			20954	protein-coding gene	gene with protein product		610902	"chromosome 6 open reading frame 55", "Vps20-associated 1 homolog (S. cerevisiae)"	C6orf55		11489251, 15644320	Standard	NM_001286372		Approved	HSPC228, My012	uc003qiw.3	Q9NP79	OTTHUMG00000015707	ENST00000367630.4:c.456C>G	6.37:g.142510607C>G	ENSP00000356602:p.Ile152Met					VTA1_ENST00000452973.2_Missense_Mutation_p.I94M|VTA1_ENST00000367621.1_Missense_Mutation_p.I94M|VTA1_ENST00000491881.1_3'UTR	p.I152M	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)	5	514	+	Breast(32;0.155)		152			Interaction with IST1.		B4DW55|E1P594|E7ETQ7|Q5TGM1|Q6IAE8|Q9H0R2|Q9H3K9|Q9P0Q0	Missense_Mutation	SNP	ENST00000367630.4	37	c.456C>G	CCDS5197.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378253	0.61735	.	.	ENSG00000009844	ENST00000367630;ENST00000367621;ENST00000452973;ENST00000427932	T;T;T	0.60299	0.2;0.2;0.2	5.46	0.341	0.15991	Vacuolar protein sorting-associate Vta1, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61022	0.2314	M	0.82923	2.615	0.58432	D	0.99999	D;D	0.89917	0.998;1.0	D;D	0.85130	0.994;0.997	T	0.60424	-0.7266	10	0.51188	T	0.08	-12.7033	4.5264	0.11983	0.1489:0.4145:0.0:0.4366	.	94;152	E7ETQ7;Q9NP79	.;VTA1_HUMAN	M	152;94;94;153	ENSP00000356602:I152M;ENSP00000356593:I94M;ENSP00000395767:I94M	ENSP00000356593:I94M	I	+	3	3	VTA1	142552300	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	0.940000	0.28992	-0.020000	0.14032	0.557000	0.71058	ATC		0.343	VTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042483.2	NM_016485		27	38	0	0	0	1	0	27	38					G	142510607	C	G	142510607	3	3	268	1	0	0	0	0	1	0	0	0	17230	845	30	4	474	4	VTA1	6	142510607	Missense_Mutation	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08	5913189	142510607	28604460	24	5782											
TAGAP	117289	broad.mit.edu	37	chr6	159457891	159457891	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tggtttgtcacccggctctcGaggcactcctgggaggatgg	15	11	2	0			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr6:159457891G>C	ENST00000367066.3	-	10	1495	c.1164C>G	c.(1162-1164)ctC>ctG	p.L388L	RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000326965.6_Silent_p.L210L|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	388					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CCCGGCTCTCGAGGCACTCCT	0.587																																						ENST00000367066.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23						c.(1162-1164)ctC>ctG		T-cell activation RhoGTPase activating protein							45	47	46					6																	159457891		2203	4300	6503	SO:0001819	synonymous_variant	117289				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr6:159457891G>C	AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"Rho GTPase activating proteins"	15669	protein-coding gene	gene with protein product		609667	"T-cell activation GTPase activating protein"			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.1164C>G	6.37:g.159457891G>C						RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000326965.6_Silent_p.L210L|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA	p.L388L	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	10	1495	-		Breast(66;0.000776)|Ovarian(120;0.0303)	388					Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Silent	SNP	ENST00000367066.3	37	c.1164C>G	CCDS5261.1																																																																																				0.587	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114		13	46	0	0	0	1	0	13	46					C	159457891	G	C	159457891	2	2	268	1	0	0	0	0	0	0	0	1	15534	1045	37	4		4	TAGAP	6	159457891	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	16947284	159457891	11657176	25	5783											
DLX6	1750	broad.mit.edu	37	chr7	96635389	96635391	+	In_Frame_Del	DEL	CAG	CAG	-													agcagcagcagcagcagcaaCagcagcagcagcagcagcag					rs35478952		TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr7:96635389_96635391delCAG	ENST00000518156.2	+	1	530_532	c.100_102delCAG	c.(100-102)cagdel	p.Q44del	DLX6_ENST00000555308.1_5'Flank|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000431497.2_RNA|DLX6-AS1_ENST00000430404.2_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	0					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					gcagcagcaacagcagcagcagc	0.68																																						ENST00000518156.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(100-102)del		distal-less homeobox 6				71,2005		9,53,976						-0.1	1.0			6	237,4797		8,221,2288	no	coding	DLX6	NM_005222.3		17,274,3264	A1A1,A1R,RR		4.708,3.42,4.3319				308,6802				SO:0001651	inframe_deletion	1750				nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:96635389_96635391delCAG		CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"Homeoboxes / ANTP class : NKL subclass"	2919	protein-coding gene	gene with protein product		600030	"distal-less homeo box 6"			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.100_102delCAG	7.37:g.96635398_96635400delCAG	ENSP00000428480:p.Gln44del					DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000437331.2_RNA	p.Q44del			P56179	DLX6_HUMAN			1	530_532	+	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		0					A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	In_Frame_Del	DEL	ENST00000518156.2	37	c.100_102delCAG	CCDS47647.2																																																																																				0.68	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	NM_005222		3	4						3	4	---	---	---	---	-	96635391	CAG	-	96635389	7	5	268	1	0	1	0	1	0	0	0	0	4575	479	17	0	102	0	DLX6	7	96635389	In_Frame_Del	DEL	CAG	TCGA-EL-A4KG-01A-11D-A257-08		96635389	62503274	26	5784											
MUC17	140453	broad.mit.edu	37	chr7	100695160	100695160	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaccagaagccatactgcatCagcccctgtgagcctggctt	10	14	1	2			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr7:100695160C>A	ENST00000306151.4	+	9	13084	c.13020C>A	c.(13018-13020)atC>atA	p.I4340I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4340					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CATACTGCATCAGCCCCTGTG	0.577																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(13018-13020)atC>atA		mucin 17, cell surface associated							183	162	169					7																	100695160		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100695160C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.13020C>A	7.37:g.100695160C>A							p.I4340I	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			9	13084	+	Lung NSC(181;0.136)|all_lung(186;0.182)		4340					O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.13020C>A	CCDS34711.1																																																																																				0.577	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		26	109	1	0	1.42536e-11	1	1.48733e-11	26	109					A	100695160	C	A	100695160	2	1	268	1	0	0	0	0	0	0	0	1	9974	816	29	4		4	MUC17	7	100695160	Silent	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08	4059771	100695160	58443503	27	5785											
TRIM24	8805	broad.mit.edu	37	chr7	138258373	138258373	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	accaaattcatcagtgccatCtccaggccttgcaggtaaag	8	12	3	0			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr7:138258373C>T	ENST00000343526.4	+	12	2215	c.2000C>T	c.(1999-2001)tCt>tTt	p.S667F	TRIM24_ENST00000415680.2_Missense_Mutation_p.S633F			O15164	TIF1A_HUMAN	tripartite motif containing 24	667					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TCAGTGCCATCTCCAGGCCTT	0.398																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	ENST00000343526.4																			0				breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						c.(1999-2001)tCt>tTt		tripartite motif containing 24							116	109	112					7																	138258373		2203	4300	6503	SO:0001583	missense	8805				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:138258373C>T	AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	11812	protein-coding gene	gene with protein product		603406	"transcriptional intermediary factor 1", "tripartite motif-containing 24"	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.2000C>T	7.37:g.138258373C>T	ENSP00000340507:p.Ser667Phe					TRIM24_ENST00000415680.2_Missense_Mutation_p.S633F	p.S667F			O15164	TIF1A_HUMAN			12	2215	+			667					A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	ENST00000343526.4	37	c.2000C>T	CCDS5847.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455246	0.84209	.	.	ENSG00000122779	ENST00000343526;ENST00000536822;ENST00000415680	T;T	0.81330	-1.37;-1.48	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.84674	0.5524	L	0.27053	0.805	0.58432	D	0.999998	D;D	0.76494	0.998;0.999	D;D	0.85130	0.982;0.997	D	0.85455	0.1163	10	0.51188	T	0.08	-18.3868	19.0964	0.93253	0.0:1.0:0.0:0.0	.	667;633	O15164;O15164-2	TIF1A_HUMAN;.	F	667;578;633	ENSP00000340507:S667F;ENSP00000390829:S633F	ENSP00000340507:S667F	S	+	2	0	TRIM24	137908913	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.063000	0.64332	2.595000	0.87683	0.563000	0.77884	TCT		0.398	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905		14	54	0	0	0	1	0	14	54					T	138258373	C	T	138258373	3	4	268	1	0	0	0	0	1	0	0	0	16495	913	32	2	2046	2	TRIM24	7	138258373	Missense_Mutation	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08	37563213	138258373	20880290	28	5786											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		22	41	0	0	0	1	0	22	41					T	140453136	A	T	140453136	3	4	268	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A4KG-01A-11D-A257-08	2194763	140453136	18685527	29	5787											
MLL3	58508	broad.mit.edu	37	chr7	151856077	151856077	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtccgtttgcttcgctgtttCttggtttcacttcctccatc	7	13	2	0			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr7:151856077C>G	ENST00000262189.6	-	44	11759	c.11541G>C	c.(11539-11541)aaG>aaC	p.K3847N	KMT2C_ENST00000355193.2_Missense_Mutation_p.K3847N	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3847					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TTCGCTGTTTCTTGGTTTCAC	0.458																																						ENST00000355193.2																			0											c.(11539-11541)aaG>aaC		lysine (K)-specific methyltransferase 2C							234	208	217					7																	151856077		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151856077C>G	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.11541G>C	7.37:g.151856077C>G	ENSP00000262189:p.Lys3847Asn					KMT2C_ENST00000262189.6_Missense_Mutation_p.K3847N	p.K3847N							44	11759	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.11541G>C	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.07|17.07	3.294222|3.294222	0.60086|0.60086	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000360104|ENST00000262189;ENST00000355193;ENST00000424877	.|D;D;D	.|0.90900	.|-1.98;-1.98;-2.75	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	.|0.000000	.|0.45606	.|U	.|0.000341	D|D	0.94251|0.94251	0.8154|0.8154	M|M	0.70275|0.70275	2.135|2.135	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;0.999;1.0	.|D;D;D	.|0.80764	.|0.994;0.964;0.975	D|D	0.93034|0.93034	0.6451|0.6451	5|10	.|0.38643	.|T	.|0.18	.|.	14.1122|14.1122	0.65129|0.65129	0.0:0.9279:0.0:0.072|0.0:0.9279:0.0:0.072	.|.	.|3847;2908;3847	.|Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	.|MLL3_HUMAN;.;.	Q|N	1353|3847;3847;433	.|ENSP00000262189:K3847N;ENSP00000347325:K3847N;ENSP00000410411:K433N	.|ENSP00000262189:K3847N	E|K	-|-	1|3	0|2	MLL3|MLL3	151487010|151487010	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.908000|3.908000	0.56355|0.56355	2.777000|2.777000	0.95525|0.95525	0.591000|0.591000	0.81541|0.81541	GAA|AAG		0.458	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			27	98	0	0	0	1	0	27	98					G	151856077	C	G	151856077	3	3	268	1	0	0	0	0	1	0	0	0	9622	912	32	4	3258	4	MLL3	7	151856077	Missense_Mutation	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08	11402941	151856077	7282586	30	5788											
NCAPG2	54892	broad.mit.edu	37	chr7	158478911	158478911	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccaagctctgaaataaatttCtgcaatgtataccatcaaag	5	9	3	1			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr7:158478911C>G	ENST00000409423.1	-	9	962	c.790G>C	c.(790-792)Gaa>Caa	p.E264Q	NCAPG2_ENST00000449727.2_Missense_Mutation_p.E264Q|NCAPG2_ENST00000275830.10_Missense_Mutation_p.E56Q|NCAPG2_ENST00000409339.3_Missense_Mutation_p.E264Q|NCAPG2_ENST00000356309.3_Missense_Mutation_p.E264Q	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	264					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		AAATAAATTTCTGCAATGTAT	0.254																																						ENST00000409339.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39						c.(790-792)Gaa>Caa		non-SMC condensin II complex, subunit G2							31	31	31					7																	158478911		1780	4041	5821	SO:0001583	missense	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158478911C>G	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"leucine zipper protein 5"	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.790G>C	7.37:g.158478911C>G	ENSP00000386569:p.Glu264Gln					NCAPG2_ENST00000409423.1_Missense_Mutation_p.E264Q|NCAPG2_ENST00000356309.3_Missense_Mutation_p.E264Q|NCAPG2_ENST00000275830.10_Missense_Mutation_p.E56Q|NCAPG2_ENST00000449727.2_Missense_Mutation_p.E264Q	p.E264Q			Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	8	903	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	264					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	ENST00000409423.1	37	c.790G>C	CCDS43686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.947586|3.947586	0.73787|0.73787	.|.	.|.	ENSG00000146918|ENSG00000146918	ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000449727|ENST00000441982	T;T;T;T;T|.	0.52526|.	0.66;0.66;0.66;0.66;0.66|.	5.24|5.24	5.24|5.24	0.73138|0.73138	Armadillo-type fold (1);|.	0.147419|.	0.64402|.	D|.	0.000011|.	T|T	0.74816|0.74816	0.3766|0.3766	M|M	0.69823|0.69823	2.125|2.125	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D|.	0.89917|.	0.999;0.999;1.0|.	D;D;D|.	0.79108|.	0.986;0.961;0.992|.	T|T	0.74080|0.74080	-0.3780|-0.3780	10|5	0.42905|.	T|.	0.14|.	-15.0116|-15.0116	17.3635|17.3635	0.87357|0.87357	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	264;56;264|.	Q86XI2-2;E7EUH9;Q86XI2|.	.;.;CNDG2_HUMAN|.	Q|H	264;264;56;264;264|65	ENSP00000348657:E264Q;ENSP00000386569:E264Q;ENSP00000275830:E56Q;ENSP00000387007:E264Q;ENSP00000388326:E264Q|.	ENSP00000275830:E56Q|.	E|Q	-|-	1|3	0|2	NCAPG2|NCAPG2	158171672|158171672	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.965000|0.965000	0.64279|0.64279	5.262000|5.262000	0.65501|0.65501	2.606000|2.606000	0.88127|0.88127	0.655000|0.655000	0.94253|0.94253	GAA|CAG		0.254	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		12	19	0	0	0	1	0	12	19					G	158478911	C	G	158478911	3	3	268	1	0	0	0	0	1	0	0	0	10208	922	32	4	2725	4	NCAPG2	7	158478911	Missense_Mutation	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08	6622834	158478911	659752	31	5789											
C8orf38	137682	broad.mit.edu	37	chr8	96044311	96044311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cactgagggcctttaatgtgGaactggctcaggctggtatt	13	8	1	1			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr8:96044311G>A	ENST00000396124.4	+	2	309	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	NDUFAF6_ENST00000396111.2_Nonsense_Mutation_p.W2*|NDUFAF6_ENST00000286687.4_5'UTR|NDUFAF6_ENST00000396113.1_Nonsense_Mutation_p.W2*|NDUFAF6_ENST00000542894.1_Missense_Mutation_p.E44K	NM_152416.3	NP_689629.2	Q330K2	NDUF6_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6	96					biosynthetic process (GO:0009058)|mitochondrial respiratory chain complex I assembly (GO:0032981)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	transferase activity (GO:0016740)										CTTTAATGTGGAACTGGCTCA	0.383																																						ENST00000396113.1																			0											c.(4-6)tgG>tgA		NADH dehydrogenase (ubiquinone) complex I, assembly factor 6							94	97	96					8																	96044311		2203	4300	6503	SO:0001583	missense	137682				biosynthetic process	mitochondrion	transferase activity	g.chr8:96044311G>A	BC028166	CCDS6266.2	8q22.1	2013-10-21	2012-05-08	2012-05-08	ENSG00000156170	ENSG00000156170		"Mitochondrial respiratory chain complex assembly factors"	28625	protein-coding gene	gene with protein product		612392	"chromosome 8 open reading frame 38"	C8orf38		22019594, 23509070	Standard	NM_152416		Approved	MGC40214	uc003yhj.3	Q330K2	OTTHUMG00000150173	ENST00000396124.4:c.286G>A	8.37:g.96044311G>A	ENSP00000379430:p.Glu96Lys					NDUFAF6_ENST00000542894.1_Missense_Mutation_p.E44K|NDUFAF6_ENST00000286687.4_5'UTR|NDUFAF6_ENST00000396124.4_Missense_Mutation_p.E96K|NDUFAF6_ENST00000396111.2_Nonsense_Mutation_p.W2*	p.W2*			Q330K2	CH038_HUMAN			8	1056	+			0					A8MT28|A8MWF0|B4DQ45|Q8N6U6	Nonsense_Mutation	SNP	ENST00000396124.4	37	c.6G>A	CCDS6266.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.262034|9.262034	0.99118|0.99118	.|.	.|.	ENSG00000156170|ENSG00000156170	ENST00000542894;ENST00000396124|ENST00000523378;ENST00000396113;ENST00000396111	D;D|.	0.84070|.	-1.8;-1.8|.	5.61|5.61	5.61|5.61	0.85477|0.85477	Terpenoid synthase (2);|.	8.480580|.	0.01362|.	N|.	0.012288|.	D|.	0.85665|.	0.5749|.	M|M	0.92268|0.92268	3.29|3.29	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.998;0.996|.	D;D|.	0.79784|.	0.993;0.948|.	D|.	0.86981|.	0.2104|.	10|.	0.72032|0.42905	D|T	0.01|0.14	-16.0926|-16.0926	18.4087|18.4087	0.90543|0.90543	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	96;44|.	Q330K2;Q330K2-2|.	CH038_HUMAN;.|.	K|X	44;96|2	ENSP00000444515:E44K;ENSP00000379430:E96K|.	ENSP00000379430:E96K|ENSP00000379417:W2X	E|W	+|+	1|3	0|0	C8orf38|C8orf38	96113487|96113487	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.882000|8.882000	0.92420|0.92420	2.636000|2.636000	0.89361|0.89361	0.655000|0.655000	0.94253|0.94253	GAA|TGG		0.383	NDUFAF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316700.2	NM_152416		17	44	0	0	0	1	0	17	44					A	96044311	G	A	96044311	3	1	268	1	0	0	0	0	1	0	0	0	2424	1175	41	2	292	2	C8orf38	8	96044311	Missense_Mutation	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08		96044311	50319711	32	5790											
TRPM3	80036	broad.mit.edu	37	chr9	73461349	73461349	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gttgtcattgctgctttgatGagccctttcccaaagacttg	9	10	1	3	rs551795475		TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr9:73461349G>C	ENST00000377111.2	-	4	864	c.621C>G	c.(619-621)ctC>ctG	p.L207L	TRPM3_ENST00000408909.2_Silent_p.L54L|TRPM3_ENST00000358082.3_Silent_p.L54L|TRPM3_ENST00000396280.5_Silent_p.L54L|TRPM3_ENST00000377110.3_Silent_p.L207L|TRPM3_ENST00000357533.2_Silent_p.L209L|TRPM3_ENST00000361823.5_Silent_p.L54L|TRPM3_ENST00000396285.1_Silent_p.L54L|TRPM3_ENST00000377097.3_Silent_p.L54L|TRPM3_ENST00000423814.3_Silent_p.L209L|TRPM3_ENST00000360823.2_Silent_p.L54L|TRPM3_ENST00000396283.1_Silent_p.L54L|TRPM3_ENST00000396292.4_Silent_p.L54L|TRPM3_ENST00000377105.1_Silent_p.L54L|TRPM3_ENST00000377101.1_Silent_p.L54L|TRPM3_ENST00000377106.1_Silent_p.L54L	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	207					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CTGCTTTGATGAGCCCTTTCC	0.483																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(619-621)ctC>ctG		transient receptor potential cation channel, subfamily M, member 3							218	212	214					9																	73461349		2203	4300	6503	SO:0001819	synonymous_variant	80036					integral to membrane	calcium channel activity	g.chr9:73461349G>C	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.621C>G	9.37:g.73461349G>C						TRPM3_ENST00000377101.1_Silent_p.L54L|TRPM3_ENST00000377106.1_Silent_p.L54L|TRPM3_ENST00000408909.2_Silent_p.L54L|TRPM3_ENST00000396285.1_Silent_p.L54L|TRPM3_ENST00000396280.5_Silent_p.L54L|TRPM3_ENST00000396283.1_Silent_p.L54L|TRPM3_ENST00000361823.5_Silent_p.L54L|TRPM3_ENST00000360823.2_Silent_p.L54L|TRPM3_ENST00000396292.4_Silent_p.L54L|TRPM3_ENST00000377111.2_Silent_p.L207L|TRPM3_ENST00000357533.2_Silent_p.L209L|TRPM3_ENST00000377097.3_Silent_p.L54L|TRPM3_ENST00000358082.3_Silent_p.L54L|TRPM3_ENST00000423814.3_Silent_p.L209L|TRPM3_ENST00000377105.1_Silent_p.L54L	p.L207L	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			4	864	-			207					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377111.2	37	c.621C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.005|9.005	0.980986|0.980986	0.18812|0.18812	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000396280|ENST00000377097	.|.	.|.	.|.	5.86|5.86	1.54|1.54	0.23209|0.23209	.|.	.|.	.|.	.|.	.|.	T|.	0.42810|.	0.1219|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.24621|.	-1.0155|.	4|.	.|.	.|.	.|.	-24.4484|-24.4484	1.5848|1.5848	0.02641|0.02641	0.2153:0.1145:0.4392:0.2311|0.2153:0.1145:0.4392:0.2311	.|.	.|.	.|.	.|.	D|X	54|97	.|.	.|.	H|S	-|-	1|2	0|0	TRPM3|TRPM3	72651169|72651169	0.944000|0.944000	0.32072|0.32072	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	-0.010000|-0.010000	0.12743|0.12743	0.315000|0.315000	0.23110|0.23110	0.650000|0.650000	0.86243|0.86243	CAT|TCA		0.483	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		26	130	0	0	0	1	0	26	130					C	73461349	G	C	73461349	2	2	268	1	0	0	0	0	0	0	0	1	16584	1277	45	4		4	TRPM3	9	73461349	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08		73461349	67752082	33	5791											
LAMC3	10319	broad.mit.edu	37	chr9	133936606	133936606	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acccactgccccccgggccaGagaggtaagtgactcctgcc	11	17	0	2			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr9:133936606G>C	ENST00000361069.4	+	13	2476	c.2343G>C	c.(2341-2343)caG>caC	p.Q781H	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	781	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCCCGGGCCAGAGAGGTAAGT	0.687																																						ENST00000361069.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(2341-2343)caG>caC		laminin, gamma 3							21	22	22					9																	133936606		2203	4299	6502	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133936606G>C	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.2343G>C	9.37:g.133936606G>C	ENSP00000354360:p.Gln781His					LAMC3_ENST00000480883.1_Intron	p.Q781H	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	13	2476	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	781			Laminin EGF-like 7.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.2343G>C	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.181805	0.38511	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.61274	0.12	4.79	2.92	0.33932	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	N	0.21194	0.64	0.40579	D	0.981371	B	0.24721	0.11	B	0.25759	0.063	T	0.21930	-1.0231	10	0.42905	T	0.14	.	5.2398	0.15465	0.1774:0.0:0.6618:0.1607	.	781	Q9Y6N6	LAMC3_HUMAN	H	781	ENSP00000354360:Q781H	ENSP00000347156:Q781H	Q	+	3	2	LAMC3	132926427	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.472000	0.35376	1.018000	0.39521	0.557000	0.71058	CAG		0.687	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		3	17	0	0	0	1	0	3	17					C	133936606	G	C	133936606	3	2	268	1	0	0	0	0	1	0	0	0	8616	933	33	4	2393	4	LAMC3	9	133936606	Missense_Mutation	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	60475257	133936606	7276825	34	5792											
NRP1	8829	broad.mit.edu	37	chr10	33510667	33510667	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgttatcttgcaaccgtatActtcaaatctcatagatatg	5	9	3	1			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr10:33510667A>G	ENST00000265371.4	-	9	1787	c.1262T>C	c.(1261-1263)gTa>gCa	p.V421A	NRP1_ENST00000374875.1_Missense_Mutation_p.V240A|NRP1_ENST00000432372.2_Missense_Mutation_p.V421A|NRP1_ENST00000374867.2_Missense_Mutation_p.V421A|NRP1_ENST00000374816.3_Missense_Mutation_p.V421A|NRP1_ENST00000374822.4_Missense_Mutation_p.V421A|NRP1_ENST00000374823.5_Missense_Mutation_p.V421A|NRP1_ENST00000374821.5_Missense_Mutation_p.V421A|NRP1_ENST00000395995.1_Missense_Mutation_p.V421A			O14786	NRP1_HUMAN	neuropilin 1	421	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GCAACCGTATACTTCAAATCT	0.393																																					Melanoma(104;886 1489 44640 45944 51153)	ENST00000265371.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48						c.(1261-1263)gTa>gCa		neuropilin 1	Palifermin(DB00039)|Pegaptanib(DB04895)						155	149	151					10																	33510667		2203	4300	6503	SO:0001583	missense	8829				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	g.chr10:33510667A>G	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"CD molecules"	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.1262T>C	10.37:g.33510667A>G	ENSP00000265371:p.Val421Ala					NRP1_ENST00000374816.3_Missense_Mutation_p.V421A|NRP1_ENST00000374822.4_Missense_Mutation_p.V421A|NRP1_ENST00000374867.2_Missense_Mutation_p.V421A|NRP1_ENST00000395995.1_Missense_Mutation_p.V421A|NRP1_ENST00000374823.5_Missense_Mutation_p.V421A|NRP1_ENST00000374821.5_Missense_Mutation_p.V421A	p.V421A			O14786	NRP1_HUMAN			9	1787	-			421			F5/8 type C 1.		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	ENST00000265371.4	37	c.1262T>C	CCDS7177.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.572593	0.86542	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816;ENST00000432372	D;D;D;D;D;D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0	5.87	5.87	0.94306	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.103731	0.64402	D	0.000003	D	0.98601	0.9532	M	0.75447	2.3	0.80722	D	1	P;P;P;P;P;P;P;P;P	0.46457	0.794;0.771;0.878;0.878;0.759;0.679;0.794;0.46;0.641	P;P;P;P;B;B;P;P;B	0.58077	0.764;0.781;0.832;0.827;0.315;0.35;0.764;0.453;0.382	D	0.99712	1.1007	10	0.87932	D	0	-24.9418	16.5764	0.84681	1.0:0.0:0.0:0.0	.	421;421;421;421;421;421;421;240;421	A8K9V7;E7EX60;Q5T7F0;Q5T7F1;O14786-2;Q68DN3;O14786;Q5JWQ6;E9PEP6	.;.;.;.;.;.;NRP1_HUMAN;.;.	A	421;240;421;421;421;421;421;421;94	ENSP00000265371:V421A;ENSP00000364009:V240A;ENSP00000364001:V421A;ENSP00000379317:V421A;ENSP00000363955:V421A;ENSP00000363954:V421A;ENSP00000363956:V421A;ENSP00000363949:V421A;ENSP00000408911:V94A	ENSP00000265371:V421A	V	-	2	0	NRP1	33550673	1.000000	0.71417	0.928000	0.36995	0.941000	0.58515	8.902000	0.92568	2.371000	0.80710	0.533000	0.62120	GTA		0.393	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			38	72	0	0	0	1	0	38	72					G	33510667	A	G	33510667	3	3	268	1	0	0	0	0	1	0	0	0	10660	391	14	3	1560	3	NRP1	10	33510667	Missense_Mutation	SNP	A	TCGA-EL-A4KG-01A-11D-A257-08		33510667	102024080	35	5793											
AFAP1L2	84632	broad.mit.edu	37	chr10	116067643	116067643	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttcattaggttgctcagtttGaggccagcagaacatttctt	9	8	3	2			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr10:116067643G>C	ENST00000304129.4	-	10	1022	c.993C>G	c.(991-993)ctC>ctG	p.L331L	AFAP1L2_ENST00000369271.3_Silent_p.L331L|AFAP1L2_ENST00000545353.1_Silent_p.L384L			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	331					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		TGCTCAGTTTGAGGCCAGCAG	0.483																																						ENST00000369271.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21						c.(991-993)ctC>ctG		actin filament associated protein 1-like 2							118	106	110					10																	116067643		2203	4300	6503	SO:0001819	synonymous_variant	84632				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding	g.chr10:116067643G>C	BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"Pleckstrin homology (PH) domain containing"	25901	protein-coding gene	gene with protein product		612420	"KIAA1914"	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.993C>G	10.37:g.116067643G>C						AFAP1L2_ENST00000304129.4_Silent_p.L331L|AFAP1L2_ENST00000545353.1_Silent_p.L384L	p.L331L	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN		Epithelial(162;0.0219)|all cancers(201;0.0561)	10	1293	-		Colorectal(252;0.175)|Breast(234;0.231)	331					A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Silent	SNP	ENST00000304129.4	37	c.993C>G	CCDS31286.1																																																																																				0.483	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	NM_032550		7	43	0	0	0	1	0	7	43					C	116067643	G	C	116067643	2	2	268	1	0	0	0	0	0	0	0	1	355	1277	45	4		4	AFAP1L2	10	116067643	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	82556976	116067643	19467104	36	5794											
PGAP2	27315	broad.mit.edu	37	chr11	3845543	3845543	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gtgttcattgcctcatccctCgggcacatgctcctcacctg	8	16	3	0	rs559872012		TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr11:3845543C>G	ENST00000463452.2	+	4	545	c.462C>G	c.(460-462)ctC>ctG	p.L154L	PGAP2_ENST00000300730.6_Silent_p.L211L|PGAP2_ENST00000396991.2_Silent_p.L215L|PGAP2_ENST00000396993.4_Missense_Mutation_p.R108G|PGAP2_ENST00000465307.2_Missense_Mutation_p.R158G|PGAP2_ENST00000479072.1_5'UTR|PGAP2_ENST00000396986.2_Silent_p.L211L|PGAP2_ENST00000278243.4_Silent_p.L215L|PGAP2_ENST00000493547.2_Silent_p.L154L|PGAP2_ENST00000532017.1_3'UTR|PGAP2_ENST00000496834.2_5'UTR|AC090587.2_ENST00000507938.1_RNA	NM_001256240.1	NP_001243169.1	Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2	154					GPI anchor biosynthetic process (GO:0006506)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|signal transduction in response to DNA damage (GO:0042770)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						CCTCATCCCTCGGGCACATGC	0.562													C|||	1	0.000199681	0	0	5008	,	,		19404	0.001		0	False		,,,				2504	0					ENST00000396993.4																			0				NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						c.(322-324)Cgg>Ggg		post-GPI attachment to proteins 2							210	163	179					11																	3845543		2201	4298	6499	SO:0001819	synonymous_variant	27315				GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity	g.chr11:3845543C>G	AF159615	CCDS7747.1, CCDS44523.1, CCDS58112.1, CCDS58113.1, CCDS73244.1, CCDS73245.1	11p15.4	2014-01-31			ENSG00000148985	ENSG00000148985			17893	protein-coding gene	gene with protein product	"FGF receptor activating protein 1", "cell wall biogenesis 43 N-terminal homolog (S. cerevisiae)"	615187	"mental retardation, non-syndromic, autosomal recessive, 21"	MRT21		10585768, 16407401, 23561846	Standard	NM_014489		Approved	FRAG1, CWH43-N	uc010qxw.3	Q9UHJ9	OTTHUMG00000012238	ENST00000463452.2:c.462C>G	11.37:g.3845543C>G						PGAP2_ENST00000496834.2_5'UTR|PGAP2_ENST00000479072.1_5'UTR|PGAP2_ENST00000396991.2_Silent_p.L215L|PGAP2_ENST00000465307.2_Missense_Mutation_p.R158G|PGAP2_ENST00000300730.6_Silent_p.L211L|PGAP2_ENST00000278243.4_Silent_p.L215L|PGAP2_ENST00000463452.2_Silent_p.L154L|PGAP2_ENST00000493547.2_Silent_p.L154L|PGAP2_ENST00000532017.1_3'UTR|PGAP2_ENST00000396986.2_Silent_p.L211L	p.R108G			Q9UHJ9	PGAP2_HUMAN			4	400	+			0					E9PJG5|H7BXL9|Q6UC77|Q96G66|Q9UF01|Q9Y4N1	Missense_Mutation	SNP	ENST00000463452.2	37	c.322C>G	CCDS58112.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.28|10.28	1.305505|1.305505	0.23736|0.23736	.|.	.|.	ENSG00000148985|ENSG00000148985	ENST00000396993;ENST00000532523;ENST00000465307|ENST00000459679;ENST00000464906;ENST00000464441	.|.	.|.	.|.	6.07|6.07	4.14|4.14	0.48551|0.48551	.|.	.|.	.|.	.|.	.|.	T|T	0.63402|0.63402	0.2508|0.2508	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B;B|.	0.09022|.	0.002;0.001|.	B;B|.	0.06405|.	0.002;0.002|.	T|T	0.62497|0.62497	-0.6842|-0.6842	7|4	0.87932|.	D|.	0|.	-36.2598|-36.2598	12.4597|12.4597	0.55725|0.55725	0.0:0.5972:0.4028:0.0|0.0:0.5972:0.4028:0.0	.|.	158;108|.	B7Z2X5;A8MZF5|.	.;.|.	G|W	108;173;158|185;245;26	.|.	ENSP00000380190:R108G|.	R|S	+|+	1|2	2|0	PGAP2|PGAP2	3802119|3802119	0.983000|0.983000	0.35010|0.35010	0.905000|0.905000	0.35620|0.35620	0.832000|0.832000	0.47134|0.47134	1.980000|1.980000	0.40618|0.40618	1.565000|1.565000	0.49641|0.49641	-0.181000|-0.181000	0.13052|0.13052	CGG|TCG		0.562	PGAP2-049	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000383260.1			24	64	0	0	0	1	0	24	64					G	3845543	C	G	3845543	2	3	268	1	0	0	0	0	0	0	0	1	11778	875	31	4		4	PGAP2	11	3845543	Silent	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08		3845543	131160973	37	5795											
EXT2	2132	broad.mit.edu	37	chr11	44135735	44135735	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaaatactttgctttcagGgccctgttggctggtggcgg	13	9	1	0			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr11:44135735G>A	ENST00000343631.3	+	4	756	c.627G>A	c.(625-627)agG>agA	p.R209R	EXT2_ENST00000358681.4_Splice_Site_p.R209R|EXT2_ENST00000529186.1_3'UTR|EXT2_ENST00000395673.3_Splice_Site_p.R242R|EXT2_ENST00000533608.1_Splice_Site_p.R209R			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	209					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TTGCTTTCAGGGCCCTGTTGG	0.443			"Mis, N, F, S"			"exostoses, osteosarcoma"			Hereditary Multiple Exostoses																													ENST00000395673.3			yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	"Mis, N, F, S"	multiple exostoses type 2 gene			M		"exostoses, osteosarcoma"			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.e4-1		exostosin glycosyltransferase 2							121	112	115					11																	44135735		2203	4300	6503	SO:0001630	splice_region_variant	2132	Hereditary Multiple Exostoses	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	g.chr11:44135735G>A		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"Exostosin glycosyltransferase family"	3513	protein-coding gene	gene with protein product	"Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"	608210	"exostoses (multiple) 2", "exostosin 2"			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.627-1G>A	11.37:g.44135735G>A						EXT2_ENST00000529186.1_3'UTR|EXT2_ENST00000533608.1_Splice_Site_p.R209_splice|EXT2_ENST00000358681.4_Splice_Site_p.R209_splice|EXT2_ENST00000343631.3_Splice_Site_p.R209_splice	p.R242_splice	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN			4	782	+			209					B2R5Z6|C9JU51|J3KPT2|O15288	Splice_Site	SNP	ENST00000343631.3	37	c.725_splice	CCDS7908.1																																																																																				0.443	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401	Silent	7	108	0	0	0	1	0	7	108					A	44135735	G	A	44135735	5	1	268	1	0	0	0	0	0	0	1	0	5324	1246	43	2	740	2	EXT2	11	44135735	Splice_Site	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	40290192	44135735	90870781	38	5796											
DPP3	10072	broad.mit.edu	37	chr11	66264824	66264824	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cttgctggaggctggcgaggGactcgttaccatcactccca	12	13	1	0			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr11:66264824G>C	ENST00000360510.2	+	16	1819	c.1754G>C	c.(1753-1755)gGa>gCa	p.G585A	DPP3_ENST00000531863.1_Missense_Mutation_p.G605A|DPP3_ENST00000532677.1_Missense_Mutation_p.G604A|DPP3_ENST00000530165.1_Missense_Mutation_p.G555A|DPP3_ENST00000541961.1_Missense_Mutation_p.G585A|DPP3_ENST00000453114.1_Missense_Mutation_p.G585A			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	585					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G585E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						GCTGGCGAGGGACTCGTTACC	0.622																																						ENST00000532677.1																			1	Substitution - Missense(1)	p.G585E(1)	breast(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(1810-1812)gGa>gCa		dipeptidyl-peptidase 3							55	56	56					11																	66264824		2200	4295	6495	SO:0001583	missense	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66264824G>C	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"dipeptidylpeptidase III", "dipeptidylpeptidase 3"			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.1754G>C	11.37:g.66264824G>C	ENSP00000353701:p.Gly585Ala					DPP3_ENST00000530165.1_Missense_Mutation_p.G555A|DPP3_ENST00000360510.2_Missense_Mutation_p.G585A|DPP3_ENST00000541961.1_Missense_Mutation_p.G585A|DPP3_ENST00000531863.1_Missense_Mutation_p.G605A|DPP3_ENST00000453114.1_Missense_Mutation_p.G585A	p.G604A	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN			16	2212	+			585					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	ENST00000360510.2	37	c.1811G>C	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.736950	0.49045	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000543807	T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84	5.85	5.85	0.93711	.	0.148161	0.64402	D	0.000010	T	0.34978	0.0916	L	0.55103	1.725	0.51767	D	0.99993	B;P	0.36616	0.233;0.561	B;P	0.47251	0.16;0.542	T	0.05632	-1.0873	10	0.49607	T	0.09	.	10.9891	0.47539	0.084:0.0:0.916:0.0	.	604;585	G3V1D3;Q9NY33	.;DPP3_HUMAN	A	605;604;585;585;585;555;483	ENSP00000432782:G605A;ENSP00000435284:G604A;ENSP00000353701:G585A;ENSP00000389943:G585A;ENSP00000440502:G585A;ENSP00000436941:G555A	ENSP00000353701:G585A	G	+	2	0	DPP3	66021400	1.000000	0.71417	0.998000	0.56505	0.465000	0.32709	5.666000	0.68059	2.767000	0.95098	0.655000	0.94253	GGA		0.622	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			29	49	0	0	0	1	0	29	49					C	66264824	G	C	66264824	3	2	268	1	0	0	0	0	1	0	0	0	4728	1174	41	4	1812	4	DPP3	11	66264824	Missense_Mutation	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	22129089	66264824	68741692	39	5797											
C11orf51	25906	broad.mit.edu	37	chr11	71822277	71822277	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcgatccagattaaaccacaGagtctcagtcacacgaggga	9	11	2	2			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr11:71822277G>A	ENST00000227618.4	-	3	271	c.46C>T	c.(46-48)Ctg>Ttg	p.L16L	ANAPC15_ENST00000543050.1_Silent_p.L16L|ANAPC15_ENST00000542531.1_Silent_p.L16L|ANAPC15_ENST00000535503.1_Silent_p.L16L|ANAPC15_ENST00000545944.1_Silent_p.L16L|ANAPC15_ENST00000543015.1_5'Flank|ANAPC15_ENST00000545680.1_Silent_p.L16L|ANAPC15_ENST00000502597.2_Intron|ANAPC15_ENST00000538393.1_Silent_p.L16L|ANAPC15_ENST00000538919.1_Silent_p.L16L|ANAPC15_ENST00000535234.1_Silent_p.L16L|ANAPC15_ENST00000543587.1_Silent_p.L16L	NM_001278487.1|NM_001278491.1|NM_014042.2	NP_001265416.1|NP_001265420.1|NP_054761.1	P60006	APC15_HUMAN	anaphase promoting complex subunit 15	16					mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	anaphase-promoting complex (GO:0005680)|intracellular (GO:0005622)											TTAAACCACAGAGTCTCAGTC	0.512																																						ENST00000227618.4																			0											c.(46-48)Ctg>Ttg		anaphase promoting complex subunit 15							138	118	125					11																	71822277		2200	4293	6493	SO:0001819	synonymous_variant	25906							g.chr11:71822277G>A	AL080071	CCDS8210.1, CCDS60880.1	11q13.4	2012-10-17	2012-05-31	2012-05-31	ENSG00000110200	ENSG00000110200		"Anaphase promoting complex subunits"	24531	protein-coding gene	gene with protein product		614717	"chromosome 11 open reading frame 51"	C11orf51		21926987	Standard	NM_014042		Approved	HSPC020, DKFZP564M082, APC15	uc001orw.3	P60006	OTTHUMG00000167865	ENST00000227618.4:c.46C>T	11.37:g.71822277G>A						ANAPC15_ENST00000543587.1_Silent_p.L16L|ANAPC15_ENST00000545944.1_Silent_p.L16L|ANAPC15_ENST00000542531.1_Silent_p.L16L|ANAPC15_ENST00000538393.1_Silent_p.L16L|ANAPC15_ENST00000545680.1_Silent_p.L16L|ANAPC15_ENST00000535234.1_Silent_p.L16L|ANAPC15_ENST00000502597.2_Intron|ANAPC15_ENST00000543050.1_Silent_p.L16L|ANAPC15_ENST00000535503.1_Silent_p.L16L|ANAPC15_ENST00000538919.1_Silent_p.L16L	p.L16L	NM_001278487.1|NM_001278491.1|NM_014042.2	NP_001265416.1|NP_001265420.1|NP_054761.1					3	271	-								G3V1Q3|Q9CXK2|Q9Y269	Silent	SNP	ENST00000227618.4	37	c.46C>T	CCDS8210.1																																																																																				0.512	ANAPC15-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396695.1	NM_014042		23	82	0	0	0	1	0	23	82					A	71822277	G	A	71822277	2	1	268	1	0	0	0	0	0	0	0	1	1646	933	33	2		2	C11orf51	11	71822277	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	5557453	71822277	63184239	40	5798											
FAT3	120114	broad.mit.edu	37	chr11	92533689	92533689	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cacaaagcacatacgtagctGaggtgagagagaacgtggct	13	8	0	3			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr11:92533689G>A	ENST00000298047.6	+	9	7527	c.7510G>A	c.(7510-7512)Gag>Aag	p.E2504K	FAT3_ENST00000525166.1_Missense_Mutation_p.E2354K|FAT3_ENST00000409404.2_Missense_Mutation_p.E2504K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2504	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATACGTAGCTGAGGTGAGAGA	0.493										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(7510-7512)Gag>Aag		FAT atypical cadherin 3							78	76	77					11																	92533689		2061	4199	6260	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92533689G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.7510G>A	11.37:g.92533689G>A	ENSP00000298047:p.Glu2504Lys	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.E2504K|FAT3_ENST00000525166.1_Missense_Mutation_p.E2354K	p.E2504K			Q8TDW7	FAT3_HUMAN			9	7527	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2504			Cadherin 23.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.7510G>A		.	.	.	.	.	.	.	.	.	.	G	23.6	4.438207	0.83885	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.53423	0.62;0.62;0.62	5.95	5.95	0.96441	.	.	.	.	.	T	0.56775	0.2008	L	0.43757	1.38	0.80722	D	1	D	0.61697	0.99	P	0.54664	0.758	T	0.46898	-0.9158	9	0.33940	T	0.23	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	2504	Q8TDW7-3	.	K	2504;2504;2354	ENSP00000298047:E2504K;ENSP00000387040:E2504K;ENSP00000432586:E2354K	ENSP00000298047:E2504K	E	+	1	0	FAT3	92173337	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.869000	0.87170	2.824000	0.97209	0.655000	0.94253	GAG		0.493	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		11	31	0	0	0	1	0	11	31					A	92533689	G	A	92533689	3	1	268	1	0	0	0	0	1	0	0	0	5691	1291	45	2	7544	2	FAT3	11	92533689	Missense_Mutation	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	20711412	92533689	42472827	41	5799											
C12orf51	283450	broad.mit.edu	37	chr12	112701951	112701951	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcattctcatcaggtttaatCaaaatagtgttactgagaag	7	6	4	1			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr12:112701951C>T	ENST00000430131.2	-	16	2534	c.1389G>A	c.(1387-1389)ttG>ttA	p.L463L	HECTD4_ENST00000550722.1_Silent_p.L751L|HECTD4_ENST00000377560.5_Silent_p.L713L|RN7SKP71_ENST00000364558.1_RNA			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	463					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CAGGTTTAATCAAAATAGTGT	0.408																																						ENST00000550722.1																			0											c.(2251-2253)ttG>ttA		HECT domain containing E3 ubiquitin protein ligase 4							113	86	95					12																	112701951		2203	4300	6503	SO:0001819	synonymous_variant	283450							g.chr12:112701951C>T	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.1389G>A	12.37:g.112701951C>T						HECTD4_ENST00000377560.5_Silent_p.L713L|HECTD4_ENST00000430131.2_Silent_p.L463L	p.L751L	NM_001109662.3	NP_001103132.3					17	2648	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.2253G>A																																																																																					0.408	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		4	12	0	0	0	1	0	4	12					T	112701951	C	T	112701951	2	4	268	1	0	0	0	0	0	0	0	1	1696	825	29	2		2	C12orf51	12	112701951	Silent	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08		112701951	21149944	42	5800											
AACS	65985	broad.mit.edu	37	chr12	125612771	125612771	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cttcctgtgtataaaggggaGattcaggcccggaacctggg	14	9	1	1			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr12:125612771G>C	ENST00000316519.6	+	13	1580	c.1374G>C	c.(1372-1374)gaG>gaC	p.E458D	AACS_ENST00000545511.1_Missense_Mutation_p.R38T|AACS_ENST00000316543.10_Missense_Mutation_p.E56D|AACS_ENST00000543665.1_5'Flank|AACS_ENST00000261686.6_Missense_Mutation_p.E458D	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	458					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)		ATAAAGGGGAGATTCAGGCCC	0.512																																						ENST00000545511.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26						c.(112-114)aGa>aCa		acetoacetyl-CoA synthetase							68	65	66					12																	125612771		2203	4300	6503	SO:0001583	missense	65985				fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding	g.chr12:125612771G>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.1374G>C	12.37:g.125612771G>C	ENSP00000324842:p.Glu458Asp					AACS_ENST00000316519.6_Missense_Mutation_p.E458D|AACS_ENST00000316543.10_Missense_Mutation_p.E56D|AACS_ENST00000261686.6_Missense_Mutation_p.E458D	p.R38T			Q86V21	AACS_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)	3	5100	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		0					Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Missense_Mutation	SNP	ENST00000316519.6	37	c.113G>C	CCDS9263.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.81|18.81	3.702114|3.702114	0.68501|0.68501	.|.	.|.	ENSG00000081760|ENSG00000081760	ENST00000316519;ENST00000261686;ENST00000316543;ENST00000538851;ENST00000536118|ENST00000545511	T;T;T;T;T|.	0.41065|.	1.01;1.01;2.84;1.01;2.84|.	4.65|4.65	1.2|1.2	0.21068|0.21068	AMP-dependent synthetase/ligase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80778|0.80778	0.4688|0.4688	H|H	0.95470|0.95470	3.675|3.675	0.58432|0.58432	D|D	0.999994|0.999994	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|T	0.81586|0.81586	-0.0865|-0.0865	10|6	0.87932|0.87932	D|D	0|0	.|.	8.9071|8.9071	0.35530|0.35530	0.4303:0.0:0.5697:0.0|0.4303:0.0:0.5697:0.0	.|.	458;458|.	Q86V21-2;Q86V21|.	.;AACS_HUMAN|.	D|T	458;458;56;123;13|38	ENSP00000324842:E458D;ENSP00000261686:E458D;ENSP00000324929:E56D;ENSP00000441686:E123D;ENSP00000441331:E13D|.	ENSP00000261686:E458D|ENSP00000441387:R38T	E|R	+|+	3|2	2|0	AACS|AACS	124178724|124178724	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.947000|0.947000	0.59692|0.59692	2.539000|2.539000	0.45718|0.45718	0.379000|0.379000	0.24794|0.24794	0.313000|0.313000	0.20887|0.20887	GAG|AGA		0.512	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400202.1	NM_023928		7	20	0	0	0	1	0	7	20					C	125612771	G	C	125612771	3	2	268	1	0	0	0	0	1	0	0	0	9	933	33	4	1424	4	AACS	12	125612771	Missense_Mutation	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	12910820	125612771	8239124	43	5801											
C14orf145	145508	broad.mit.edu	37	chr14	81259151	81259151	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	aacagtttcagattgtttctCcaacgctcgttctaacttct	5	11	4	1			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr14:81259151C>G	ENST00000555265.1	-	14	1888	c.1513G>C	c.(1513-1515)Gag>Cag	p.E505Q	CEP128_ENST00000281129.3_Missense_Mutation_p.E505Q			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	505						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GATTGTTTCTCCAACGCTCGT	0.418																																						ENST00000555265.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1513-1515)Gag>Cag		centrosomal protein 128kDa							196	185	189					14																	81259151		2203	4300	6503	SO:0001583	missense	145508					centriole|spindle pole		g.chr14:81259151C>G	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 61", "chromosome 14 open reading frame 145"	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.1513G>C	14.37:g.81259151C>G	ENSP00000451162:p.Glu505Gln					CEP128_ENST00000281129.3_Missense_Mutation_p.E505Q	p.E505Q			Q6ZU80	CE128_HUMAN			14	1888	-			505					B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	c.1513G>C	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	C	9.666	1.145308	0.21288	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619	T;T	0.37915	1.17;1.17	5.58	5.58	0.84498	.	0.129370	0.50627	D	0.000109	T	0.36826	0.0981	L	0.50333	1.59	0.80722	D	1	P	0.36199	0.543	B	0.37144	0.242	T	0.08249	-1.0731	10	0.17369	T	0.5	.	19.5769	0.95449	0.0:1.0:0.0:0.0	.	505	Q6ZU80	CE128_HUMAN	Q	505	ENSP00000281129:E505Q;ENSP00000451162:E505Q	ENSP00000281129:E505Q	E	-	1	0	CEP128	80328904	1.000000	0.71417	0.996000	0.52242	0.126000	0.20510	4.278000	0.58946	2.622000	0.88805	0.650000	0.86243	GAG		0.418	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		19	97	0	0	0	1	0	19	97					G	81259151	C	G	81259151	3	3	268	1	0	0	0	0	1	0	0	0	1749	864	30	4	1819	4	C14orf145	14	81259151	Missense_Mutation	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08		81259151	26090389	44	5802											
SERPINA9	327657	broad.mit.edu	37	chr14	94942490	94942490	+	5'Flank	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cacctttgcaggttcctcttCtcctgccctgtccttgcatg	7	16	2	0			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr14:94942490C>T	ENST00000380365.3	-	0	0				SERPINA9_ENST00000337425.5_Missense_Mutation_p.R7K|SERPINA9_ENST00000424550.2_5'UTR|SERPINA9_ENST00000546329.1_Silent_p.E34E|SERPINA9_ENST00000298845.7_Missense_Mutation_p.R7K|SERPINA9_ENST00000539349.1_Intron|SERPINA9_ENST00000448305.2_5'UTR			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		ggttcctcttctcctgccctg	0.532																																						ENST00000337425.5																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21						c.(19-21)aGa>aAa		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9							326	330	329					14																	94942490		2072	4217	6289	SO:0001631	upstream_gene_variant	327657				regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	g.chr14:94942490C>T	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"Serine (or cysteine) peptidase inhibitors"	15995	protein-coding gene	gene with protein product		615677	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710		14.37:g.94942490C>T	Exception_encountered					SERPINA9_ENST00000539349.1_Intron|SERPINA9_ENST00000448305.2_5'UTR|SERPINA9_ENST00000424550.2_5'UTR|SERPINA9_ENST00000298845.7_Missense_Mutation_p.R7K|SERPINA9_ENST00000546329.1_Silent_p.E34E	p.R7K	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)	1	94	-		all_cancers(154;0.0691)|all_epithelial(191;0.233)	0					B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Missense_Mutation	SNP	ENST00000380365.3	37	c.20G>A		.	.	.	.	.	.	.	.	.	.	C	8.750	0.921089	0.17982	.	.	ENSG00000170054	ENST00000298845;ENST00000337425	D;D	0.84516	-1.86;-1.77	2.0	2.0	0.26442	.	.	.	.	.	T	0.75428	0.3848	.	.	.	0.43073	D	0.994717	B;B	0.30211	0.273;0.273	B;B	0.21546	0.025;0.035	T	0.75230	-0.3391	8	0.62326	D	0.03	.	7.5365	0.27712	0.0:1.0:0.0:0.0	.	7;7	Q86WD7-7;Q86WD7-2	.;.	K	7	ENSP00000298845:R7K;ENSP00000337133:R7K	ENSP00000298845:R7K	R	-	2	0	SERPINA9	94012243	0.000000	0.05858	0.497000	0.27552	0.125000	0.20455	0.316000	0.19469	1.438000	0.47492	0.508000	0.49915	AGA		0.532	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2	NM_175739		49	144	0	0	0	1	0	49	144					T	94942490	C	T	94942490	1	4	268	0	1	0	0	0	0	0	0	0	14095	913	32	2		2	SERPINA9	14	94942490	5'Flank	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08	13683339	94942490	12407050	45	5803											
C14orf79	122616	broad.mit.edu	37	chr14	105455319	105455319	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acattttaaagtgtgcttttCaagaaataacagtccagcag	7	7	1	1			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr14:105455319C>T	ENST00000547315.1	+	2	1102	c.463C>T	c.(463-465)Caa>Taa	p.Q155*	C14orf79_ENST00000549240.1_5'Flank|C14orf79_ENST00000549584.1_3'UTR|C14orf79_ENST00000550614.1_5'UTR	NM_174891.3	NP_777551.2	Q96F83	CN079_HUMAN	chromosome 14 open reading frame 79	155										breast(1)|endometrium(1)|lung(1)	3		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)			GTGTGCTTTTCAAGAAATAAC	0.383																																						ENST00000547315.1																			0				breast(1)|endometrium(1)|lung(1)	3						c.(463-465)Caa>Taa		chromosome 14 open reading frame 79							99	92	94					14																	105455319		1860	4095	5955	SO:0001587	stop_gained	122616							g.chr14:105455319C>T		CCDS42000.1	14q32.33	2012-09-25			ENSG00000140104	ENSG00000140104			20126	protein-coding gene	gene with protein product							Standard	NM_174891		Approved		uc001ypy.1	Q96F83	OTTHUMG00000170474	ENST00000547315.1:c.463C>T	14.37:g.105455319C>T	ENSP00000450114:p.Gln155*					C14orf79_ENST00000549584.1_3'UTR|C14orf79_ENST00000550614.1_5'UTR	p.Q155*	NM_174891.3	NP_777551.2	Q96F83	CN079_HUMAN	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)		2	1102	+		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	155					B2RPK9|Q9BTP4	Nonsense_Mutation	SNP	ENST00000547315.1	37	c.463C>T	CCDS42000.1	.	.	.	.	.	.	.	.	.	.	C	40	8.170074	0.98688	.	.	ENSG00000140104	ENST00000547315	.	.	.	4.57	4.57	0.56435	.	0.382961	0.18810	N	0.130556	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-7.1115	12.8783	0.58001	0.0:1.0:0.0:0.0	.	.	.	.	X	155	.	ENSP00000374614:Q155X	Q	+	1	0	C14orf79	104526364	0.981000	0.34729	0.998000	0.56505	0.166000	0.22503	1.954000	0.40362	2.098000	0.63641	0.563000	0.77884	CAA		0.383	C14orf79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409318.1	NM_174891		29	49	0	0	0	1	0	29	49					T	105455319	C	T	105455319	4	4	268	1	0	0	0	0	0	1	0	0	1780	827	29	2	469	2	C14orf79	14	105455319	Nonsense_Mutation	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08	10512829	105455319	1894221	46	5804											
CT62	196993	broad.mit.edu	37	chr15	71403760	71403760	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gactgtaggtcagcattccaGagttcctggaggaggaagaa	14	7	1	2			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr15:71403760G>C	ENST00000449977.2	-	4	647	c.141C>G	c.(139-141)ctC>ctG	p.L47L	CT62_ENST00000566432.1_3'UTR|THSD4_ENST00000355327.3_Intron	NM_001102658.1	NP_001096128.1	P0C5K7	CT62_HUMAN	cancer/testis antigen 62	47										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)	6						CAGCATTCCAGAGTTCCTGGA	0.493																																						ENST00000449977.2																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)	6						c.(139-141)ctC>ctG		cancer/testis antigen 62							25	25	25					15																	71403760		1905	4121	6026	SO:0001819	synonymous_variant	196993							g.chr15:71403760G>C	BC039359, AL080151	CCDS45295.1	15q23	2011-03-09			ENSG00000225362	ENSG00000225362			27286	protein-coding gene	gene with protein product						15905330	Standard	NM_001102658		Approved		uc002ata.2	P0C5K7		ENST00000449977.2:c.141C>G	15.37:g.71403760G>C						THSD4_ENST00000355327.3_Intron|RP11-673C5.4_ENST00000564862.1_RNA|CT62_ENST00000566432.1_3'UTR	p.L47L	NM_001102658.1	NP_001096128.1	P0C5K7	CT62_HUMAN			4	647	-			47						Silent	SNP	ENST00000449977.2	37	c.141C>G	CCDS45295.1																																																																																				0.493	CT62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420810.1	NM_001102658		6	11	0	0	0	1	0	6	11					C	71403760	G	C	71403760	2	2	268	1	0	0	0	0	0	0	0	1	3990	929	33	4		4	CT62	15	71403760	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08		71403760	31127632	47	5805											
AKAP13	11214	broad.mit.edu	37	chr15	86205661	86205661	+	Intron	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtgcagtactctgctggcctGagtgctgactttaattacag	11	9	1	2			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr15:86205661G>C	ENST00000394518.2	+	13	4894				AKAP13_ENST00000560579.1_Intron|AKAP13_ENST00000361243.2_Silent_p.L1596L|RP11-815J21.4_ENST00000558980.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13						apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CTGCTGGCCTGAGTGCTGACT	0.478																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000361243.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(4786-4788)ctG>ctC		A kinase (PRKA) anchor protein 13							186	176	179					15																	86205661		2202	4299	6501	SO:0001627	intron_variant	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86205661G>C	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.4800-2133G>C	15.37:g.86205661G>C						AKAP13_ENST00000394518.2_Intron|AKAP13_ENST00000560579.1_Intron|RP11-815J21.4_ENST00000558980.1_RNA	p.L1596L	NM_006738.4	NP_006729.4	Q12802	AKP13_HUMAN			12	4869	+			1596					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	c.4788G>C	CCDS32319.1																																																																																				0.478	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		29	75	0	0	0	1	0	29	75					C	86205661	G	C	86205661	1	2	268	0	1	0	0	0	0	0	0	0	449	1277	45	4		4	AKAP13	15	86205661	Intron	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	14801901	86205661	16325731	48	5806											
ABCC12	94160	broad.mit.edu	37	chr16	48155668	48155668	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccaaagagtatgttttctctCacatttccatgaaagatcca	5	10	2	3			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr16:48155668C>T	ENST00000311303.3	-	11	2016	c.1671G>A	c.(1669-1671)gtG>gtA	p.V557V	ABCC12_ENST00000448542.1_Silent_p.V557V|ABCC12_ENST00000416054.1_Silent_p.V557V	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	557	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.					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)				TGTTTTCTCTCACATTTCCAT	0.433																																						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.(1669-1671)gtG>gtA		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							86	73	77					16																	48155668		2201	4300	6501	SO:0001819	synonymous_variant	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48155668C>T	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.1671G>A	16.37:g.48155668C>T						ABCC12_ENST00000416054.1_Silent_p.V557V|ABCC12_ENST00000448542.1_Silent_p.V557V	p.V557V	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			11	2016	-		all_cancers(37;0.0474)|all_lung(18;0.047)	557			ABC transporter 1.		Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	ENST00000311303.3	37	c.1671G>A	CCDS10730.1																																																																																				0.433	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		14	35	0	0	0	1	0	14	35					T	48155668	C	T	48155668	2	4	268	1	0	0	0	0	0	0	0	1	52	813	29	2		2	ABCC12	16	48155668	Silent	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08		48155668	42199085	49	5807											
P4HB	5034	broad.mit.edu	37	chr17	79804400	79804400	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gtacttggtcatctcctcctCcagggtgatgaggcgcacgg	13	12	2	2			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr17:79804400C>G	ENST00000331483.4	-	7	1183	c.961G>C	c.(961-963)Gag>Cag	p.E321Q	P4HB_ENST00000576390.1_Intron|P4HB_ENST00000472244.1_5'UTR|RP11-498C9.2_ENST00000576784.1_RNA|P4HB_ENST00000439918.2_Missense_Mutation_p.E277Q	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	321					cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein folding (GO:0006457)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|procollagen-proline 4-dioxygenase complex (GO:0016222)	poly(A) RNA binding (GO:0044822)|procollagen-proline 4-dioxygenase activity (GO:0004656)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			ATCTCCTCCTCCAGGGTGATG	0.577																																					Colon(49;444 983 1296 7887 42561)	ENST00000331483.4																			0				NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22						c.(961-963)Gag>Cag		prolyl 4-hydroxylase, beta polypeptide							109	83	92					17																	79804400		2203	4300	6503	SO:0001583	missense	5034				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr17:79804400C>G	J02783	CCDS11787.1	17q25	2011-10-19	2008-12-09		ENSG00000185624	ENSG00000185624	1.14.11.2, 5.3.4.1	"Protein disulfide isomerases"	8548	protein-coding gene	gene with protein product	"protein disulfide isomerase-associated 1", "protein disulfide isomerase family A, member 1", "collagen prolyl 4-hydroxylase beta"	176790	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)", "procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)", "procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide"	PO4DB, ERBA2L		8111381	Standard	NM_000918		Approved	PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4Hbeta	uc002kbn.1	P07237	OTTHUMG00000150269	ENST00000331483.4:c.961G>C	17.37:g.79804400C>G	ENSP00000327801:p.Glu321Gln					P4HB_ENST00000576390.1_Intron|P4HB_ENST00000439918.2_Missense_Mutation_p.E277Q|P4HB_ENST00000472244.1_5'UTR	p.E321Q	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)		7	1183	-	all_neural(118;0.0878)|Ovarian(332;0.12)		321					B2RDQ2|P30037|P32079|Q15205|Q6LDE5	Missense_Mutation	SNP	ENST00000331483.4	37	c.961G>C	CCDS11787.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.1|28.1	4.891015|4.891015	0.91889|0.91889	.|.	.|.	ENSG00000185624|ENSG00000185624	ENST00000331483;ENST00000537205;ENST00000436463|ENST00000415593;ENST00000439918	T|.	0.14516|.	2.5|.	5.74|5.74	4.76|4.76	0.60689|0.60689	Thioredoxin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82412|0.82412	0.5031|0.5031	M|M	0.87038|0.87038	2.855|2.855	0.80722|0.80722	D|D	1|1	P|.	0.46395|.	0.877|.	P|.	0.59825|.	0.864|.	D|D	0.85338|0.85338	0.1094|0.1094	10|5	0.66056|.	D|.	0.02|.	.|.	16.8818|16.8818	0.86065|0.86065	0.0:0.8717:0.1283:0.0|0.0:0.8717:0.1283:0.0	.|.	321|.	P07237|.	PDIA1_HUMAN|.	Q|A	321;264;305|86;107	ENSP00000327801:E321Q|.	ENSP00000327801:E321Q|.	E|G	-|-	1|2	0|0	P4HB|P4HB	77397689|77397689	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.920000|0.920000	0.55202|0.55202	6.002000|6.002000	0.70693|0.70693	1.411000|1.411000	0.46957|0.46957	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.577	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317250.3	NM_000918		20	59	0	0	0	1	0	20	59					G	79804400	C	G	79804400	3	3	268	1	0	0	0	0	1	0	0	0	11359	864	30	4	585	4	P4HB	17	79804400	Missense_Mutation	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08		79804400	1390810	50	5808											
C19orf55	126393	broad.mit.edu	37	chr19	36250713	36250713	+	5'Flank	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctgagcccatccaggtctcaGagatccaggctcccacaagc	9	16	1	2			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr19:36250713G>C	ENST00000592984.1	-	0	0				C19orf55_ENST00000537459.1_Missense_Mutation_p.Q44H|C19orf55_ENST00000396908.4_Missense_Mutation_p.Q44H|C19orf55_ENST00000421853.2_Intron|HSPB6_ENST00000587965.1_5'Flank|HSPB6_ENST00000004982.3_5'Flank|C19orf55_ENST00000536950.1_Missense_Mutation_p.Q44H|C19orf55_ENST00000544099.1_Missense_Mutation_p.Q44H			O14558	HSPB6_HUMAN	heat shock protein, alpha-crystallin-related, B6						regulation of muscle contraction (GO:0006937)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)			lung(1)	1	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCAGGTCTCAGAGATCCAGGC	0.577																																						ENST00000544099.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15						c.(130-132)caG>caC		chromosome 19 open reading frame 55							32	35	34					19																	36250713		1914	4108	6022	SO:0001631	upstream_gene_variant	148137							g.chr19:36250713G>C	AJ278121	CCDS12475.1	19q13.13	2014-06-12			ENSG00000004776	ENSG00000004776		"Heat shock proteins / HSPB"	26511	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 91"	610695				12820654, 14717697	Standard	NM_144617		Approved	FLJ32389, Hsp20, PPP1R91	uc002obn.2	O14558	OTTHUMG00000048122		19.37:g.36250713G>C	Exception_encountered					C19orf55_ENST00000536950.1_Missense_Mutation_p.Q44H|C19orf55_ENST00000421853.2_Intron|C19orf55_ENST00000537459.1_Missense_Mutation_p.Q44H|C19orf55_ENST00000396908.4_Missense_Mutation_p.Q44H	p.Q44H			Q2NL68	CS055_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	195	+	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		44					O14551|Q6NVI3|Q96MG9	Missense_Mutation	SNP	ENST00000592984.1	37	c.132G>C	CCDS12475.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.668305	0.47677	.	.	ENSG00000167595	ENST00000396908;ENST00000301165	T	0.34472	1.36	4.1	0.515	0.17013	.	0.596324	0.13000	N	0.421717	T	0.35038	0.0918	L	0.51422	1.61	0.09310	N	1	P;P;P	0.50943	0.94;0.94;0.94	P;P;P	0.51016	0.656;0.53;0.53	T	0.15009	-1.0452	10	0.42905	T	0.14	-2.325	2.7479	0.05272	0.2515:0.0:0.5242:0.2243	.	44;44;44	E5RFB9;Q2NL68-3;Q2NL68-4	.;.;.	H	44	ENSP00000380116:Q44H	ENSP00000301165:Q44H	Q	+	3	2	C19orf55	40942553	0.000000	0.05858	0.702000	0.30337	0.907000	0.53573	0.373000	0.20484	0.473000	0.27368	0.467000	0.42956	CAG		0.577	HSPB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109498.3	NM_144617		3	3	0	0	0	1	0	3	3					C	36250713	G	C	36250713	1	2	268	0	1	0	0	0	0	0	0	0	1937	933	33	4		4	C19orf55	19	36250713	5'Flank	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08		36250713	22878270	51	5809											
LIPE	3991	broad.mit.edu	37	chr19	42912472	42912472	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aatggccggatggcaggcgtGaactgtggagagacgcggct	18	8	0	2			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr19:42912472G>A	ENST00000244289.4	-	3	1698	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE_ENST00000602000.1_5'UTR	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	474					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)	p.F474L(1)		breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TGGCAGGCGTGAACTGTGGAG	0.617																																						ENST00000244289.4																			1	Substitution - Missense(1)	p.F474L(1)	kidney(1)	breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(1420-1422)ttC>ttT		lipase, hormone-sensitive							121	111	115					19																	42912472		2203	4300	6503	SO:0001819	synonymous_variant	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42912472G>A	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.1422C>T	19.37:g.42912472G>A						LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	p.F474F	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN			3	1698	-		Prostate(69;0.00682)	474					Q3LRT2|Q6NSL7	Silent	SNP	ENST00000244289.4	37	c.1422C>T	CCDS12607.1																																																																																				0.617	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		25	82	0	0	0	1	0	25	82					A	42912472	G	A	42912472	2	1	268	1	0	0	0	0	0	0	0	1	8821	1281	45	2		2	LIPE	19	42912472	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	6661759	42912472	16216511	52	5810											
LMTK3	114783	broad.mit.edu	37	chr19	49005818	49005818	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tcggggggccgctgggctcgGaggtaacgcttcaggtcccc	17	13	1	0			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr19:49005818G>C	ENST00000600059.1	-	7	893	c.666C>G	c.(664-666)ctC>ctG	p.L222L	LMTK3_ENST00000270238.3_Silent_p.L251L			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	222	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GCTGGGCTCGGAGGTAACGCT	0.697																																						ENST00000600059.1																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16						c.(664-666)ctC>ctG		lemur tyrosine kinase 3							17	21	20					19																	49005818		1999	4126	6125	SO:0001819	synonymous_variant	114783							g.chr19:49005818G>C	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 101"						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.666C>G	19.37:g.49005818G>C						LMTK3_ENST00000270238.3_Silent_p.L251L	p.L222L						OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	7	893	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	Silent	SNP	ENST00000600059.1	37	c.666C>G																																																																																					0.697	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		5	22	0	0	0	1	0	5	22					C	49005818	G	C	49005818	2	2	268	1	0	0	0	0	0	0	0	1	8860	1161	41	4		4	LMTK3	19	49005818	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	6093346	49005818	10123165	53	5811											
CHGB	1114	broad.mit.edu	37	chr20	5904455	5904455	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggtgaggaggaaaatgagctGaccttgaacgagaagaattt	14	4	0	6			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr20:5904455G>A	ENST00000378961.4	+	4	1869	c.1665G>A	c.(1663-1665)ctG>ctA	p.L555L		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	555						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AAAATGAGCTGACCTTGAACG	0.453																																						ENST00000378961.4																			0				breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						c.(1663-1665)ctG>ctA		chromogranin B (secretogranin 1)							74	71	72					20																	5904455		2203	4300	6503	SO:0001819	synonymous_variant	1114					extracellular region	hormone activity	g.chr20:5904455G>A		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"secretogranin B"	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.1665G>A	20.37:g.5904455G>A							p.L555L	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN			4	1869	+			555					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Silent	SNP	ENST00000378961.4	37	c.1665G>A	CCDS13092.1																																																																																				0.453	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		20	55	0	0	0	1	0	20	55					A	5904455	G	A	5904455	2	1	268	1	0	0	0	0	0	0	0	1	3339	1277	45	2		2	CHGB	20	5904455	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08		5904455	57121065	54	5812											
TSSK2	23617	broad.mit.edu	37	chr22	19118936	19118936	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacgatgccacagtcctaagGaagaagggttacatcgtagg	13	8	0	1			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr22:19118936G>A	ENST00000399635.2	+	1	616	c.24G>A	c.(22-24)agG>agA	p.R8R	DGCR14_ENST00000252137.6_3'UTR|AC004471.10_ENST00000609936.1_lincRNA	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	8					multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					CAGTCCTAAGGAAGAAGGGTT	0.542																																						ENST00000399635.2																			0				endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11						c.(22-24)agG>agA		testis-specific serine kinase 2							68	55	59					22																	19118936		2203	4300	6503	SO:0001819	synonymous_variant	23617				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:19118936G>A	AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"serine/threonine kinase 22B (spermiogenesis associated)"	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.24G>A	22.37:g.19118936G>A						DGCR14_ENST00000252137.6_3'UTR	p.R8R	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN			1	616	+	Colorectal(54;0.0993)		8					Q8IY55	Silent	SNP	ENST00000399635.2	37	c.24G>A	CCDS13755.1																																																																																				0.542	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316431.1			10	34	0	0	0	1	0	10	34					A	19118936	G	A	19118936	2	1	268	1	0	0	0	0	0	0	0	1	16666	1165	41	2		2	TSSK2	22	19118936	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08		19118936	32185630	55	5813											
TMEM47	83604	broad.mit.edu	37	chrX	34648444	34648444	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttggttctagtagtagtcttCatagttcttagggttcaggc	11	6	5	0			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chrX:34648444C>A	ENST00000275954.3	-	3	790	c.532G>T	c.(532-534)Gaa>Taa	p.E178*		NM_031442.3	NP_113630.1	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	178						cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						TAGTAGTCTTCATAGTTCTTA	0.398																																						ENST00000275954.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(532-534)Gaa>Taa		transmembrane protein 47							158	140	146					X																	34648444		2202	4300	6502	SO:0001587	stop_gained	83604					integral to membrane		g.chrX:34648444C>A	AK090917	CCDS14235.1	Xp11.4	2008-02-05	2005-03-21	2005-03-21	ENSG00000147027	ENSG00000147027			18515	protein-coding gene	gene with protein product		300698	"transmembrane 4 superfamily member 10"	TM4SF10		11472633	Standard	NM_031442		Approved	BCMP1, DKFZP761J17121, DKFZp564E153	uc004ddh.3	Q9BQJ4	OTTHUMG00000021343	ENST00000275954.3:c.532G>T	X.37:g.34648444C>A	ENSP00000275954:p.Glu178*						p.E178*	NM_031442.3	NP_113630.1	Q9BQJ4	TMM47_HUMAN			3	790	-			178					Q5JR44	Nonsense_Mutation	SNP	ENST00000275954.3	37	c.532G>T	CCDS14235.1	.	.	.	.	.	.	.	.	.	.	C	36	5.861323	0.97036	.	.	ENSG00000147027	ENST00000275954	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.45139	D	0.998157	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	0.7713	17.0295	0.86457	0.0:1.0:0.0:0.0	.	.	.	.	X	178	.	ENSP00000275954:E178X	E	-	1	0	TMEM47	34558365	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.438000	0.80431	2.231000	0.72958	0.415000	0.27848	GAA		0.398	TMEM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056209.1	NM_031442		19	48	1	0	6.94344e-10	1	7.14183e-10	19	48					A	34648444	C	A	34648444	4	1	268	1	0	0	0	0	0	1	0	0	16168	835	29	4	17	4	TMEM47	23	34648444	Nonsense_Mutation	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08		34648444	120622116	56	5814											
ATP11C	286410	broad.mit.edu	37	chrX	138871491	138871491	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ataatgcaaatgcaccttatCtactttgtcaaaatatgtta	4	7	2	0			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chrX:138871491C>G	ENST00000327569.3	-	13	1470	c.1372G>C	c.(1372-1374)Gat>Cat	p.D458H	ATP11C_ENST00000370557.1_Missense_Mutation_p.D455H|ATP11C_ENST00000370543.1_Missense_Mutation_p.D458H|ATP11C_ENST00000359686.2_Missense_Mutation_p.D458H|ATP11C_ENST00000361648.2_Missense_Mutation_p.D458H|ATP11C_ENST00000460773.1_5'UTR	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	458					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|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(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TGCACCTTATCTACTTTGTCA	0.318																																						ENST00000370557.1																			0				breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75						c.(1363-1365)Gat>Cat		ATPase, class VI, type 11C							127	105	113					X																	138871491		2203	4299	6502	SO:0001583	missense	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138871491C>G	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"ATPases / P-type"	13554	protein-coding gene	gene with protein product		300516	"ATPase, Class VI, type 11C"			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.1372G>C	X.37:g.138871491C>G	ENSP00000332756:p.Asp458His					ATP11C_ENST00000370543.1_Missense_Mutation_p.D458H|ATP11C_ENST00000361648.2_Missense_Mutation_p.D458H|ATP11C_ENST00000359686.2_Missense_Mutation_p.D458H|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000327569.3_Missense_Mutation_p.D458H	p.D455H			Q8NB49	AT11C_HUMAN			13	2390	-	Acute lymphoblastic leukemia(192;0.000127)		458					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	c.1363G>C	CCDS14668.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.09|14.09	2.430516|2.430516	0.43122|0.43122	.|.	.|.	ENSG00000101974|ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686|ENST00000422228	T;T;T;T;T|.	0.63417|.	-0.04;-0.04;-0.04;-0.04;-0.04|.	5.7|5.7	5.7|5.7	0.88788|0.88788	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);|.	0.861742|.	0.10536|.	N|.	0.663220|.	T|.	0.39963|.	0.1098|.	N|N	0.05050|0.05050	-0.12|-0.12	0.37707|0.37707	D|D	0.924448|0.924448	B;B|.	0.31026|.	0.259;0.304|.	B;B|.	0.32022|.	0.136;0.139|.	T|.	0.43893|.	-0.9363|.	10|.	0.30078|.	T|.	0.28|.	.|.	17.7536|17.7536	0.88442|0.88442	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	458;458|.	Q8NB49-3;Q8NB49|.	.;AT11C_HUMAN|.	H|Y	455;458;458;458;458|33	ENSP00000359588:D455H;ENSP00000355165:D458H;ENSP00000332756:D458H;ENSP00000359574:D458H;ENSP00000352715:D458H|.	ENSP00000332756:D458H|.	D|X	-|-	1|3	0|2	ATP11C|ATP11C	138699157|138699157	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.848000|0.848000	0.48234|0.48234	3.000000|3.000000	0.49481|0.49481	2.411000|2.411000	0.81874|0.81874	0.529000|0.529000	0.55759|0.55759	GAT|TAG		0.318	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		8	32	0	0	0	1	0	8	32					G	138871491	C	G	138871491	3	3	268	1	0	0	0	0	1	0	0	0	1121	913	32	4	2161	4	ATP11C	23	138871491	Missense_Mutation	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08	104223047	138871491	16399069	57	5815											
SDPR	8436	broad.mit.edu	37	chr2	192701209	192701209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaatgctttcttgaggctatCcactttcttcaggctggatc	8	10	3	1			TCGA-EL-A4KH-01A-11D-A257-08	TCGA-EL-A4KH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f751da92-34f7-4f6b-93c8-1946d3e1e068	11398e17-c47c-4c24-852f-e642cf930718	g.chr2:192701209C>T	ENST00000304141.4	-	2	1047	c.718G>A	c.(718-720)Gat>Aat	p.D240N		NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			TTGAGGCTATCCACTTTCTTC	0.453																																						ENST00000304141.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23						c.(718-720)Gat>Aat		serum deprivation response	Phosphatidylserine(DB00144)						207	216	213					2																	192701209		2203	4300	6503	SO:0001583	missense	8436					caveola|cytosol	phosphatidylserine binding|protein binding	g.chr2:192701209C>T	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"phosphatidylserine binding protein"	606728	"serum deprivation response (phosphatidylserine-binding protein)", "serum deprivation response (phosphatidylserine binding protein)"			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.718G>A	2.37:g.192701209C>T	ENSP00000305675:p.Asp240Asn						p.D240N	NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		2	1047	-			240						Missense_Mutation	SNP	ENST00000304141.4	37	c.718G>A	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	C	34	5.323413	0.95708	.	.	ENSG00000168497	ENST00000304141	T	0.63580	-0.05	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.78761	0.4334	M	0.69463	2.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80464	-0.1371	10	0.87932	D	0	-32.0306	18.8456	0.92205	0.0:1.0:0.0:0.0	.	240	O95810	SDPR_HUMAN	N	240	ENSP00000305675:D240N	ENSP00000305675:D240N	D	-	1	0	SDPR	192409454	1.000000	0.71417	0.999000	0.59377	0.929000	0.56500	7.499000	0.81566	2.698000	0.92095	0.563000	0.77884	GAT		0.453	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	NM_004657		7	191	0	0	0	1	0	7	191					T	192701209	C	T	192701209	3	4	269	1	0	0	0	0	1	0	0	0	13970	855	30	2	563	2	SDPR	2	192701209	Missense_Mutation	SNP	C	TCGA-EL-A4KH-01A-11D-A257-08		192701209	50498164	1	5816											
TAPBP	9278	broad.mit.edu	37	chr6	33281527	33281527	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggggcggcggttcccccGgtccctggcgcaacagcagt	16	16	0	0			TCGA-EL-A4KH-01A-11D-A257-08	TCGA-EL-A4KH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f751da92-34f7-4f6b-93c8-1946d3e1e068	11398e17-c47c-4c24-852f-e642cf930718	g.chr6:33281527G>A	ENST00000431845.2	-	0	2651				TAPBP_ENST00000426633.2_Missense_Mutation_p.P51L|TAPBP_ENST00000456592.2_Missense_Mutation_p.P51L|TAPBP_ENST00000475304.1_Missense_Mutation_p.P51L|TAPBP_ENST00000489157.1_Missense_Mutation_p.P51L|TAPBP_ENST00000434618.2_Missense_Mutation_p.P51L	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22						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)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CGGTTCCCCCGGTCCCTGGCG	0.672																																						ENST00000434618.2																			0				endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						c.(151-153)cCg>cTg		TAP binding protein (tapasin)							28	32	31					6																	33281527		2203	4291	6494	SO:0001628	intergenic_variant	6892				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding	g.chr6:33281527G>A	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13085	protein-coding gene	gene with protein product		611439	"zinc finger protein 297"	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110		6.37:g.33281527G>A						TAPBP_ENST00000489157.1_Missense_Mutation_p.P51L|TAPBP_ENST00000426633.2_Missense_Mutation_p.P51L|TAPBP_ENST00000456592.2_Missense_Mutation_p.P51L|TAPBP_ENST00000475304.1_Missense_Mutation_p.P51L	p.P51L	NM_003190.4|NM_172209.2	NP_003181.3|NP_757346.2	O15533	TPSN_HUMAN			2	497	-			51					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	c.152C>T	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	G	3.256	-0.152216	0.06585	.	.	ENSG00000231925	ENST00000434618;ENST00000475304;ENST00000489157;ENST00000426633;ENST00000456592;ENST00000449540;ENST00000458089;ENST00000437741	T;T;T;T;T	0.37915	1.49;1.47;1.17;1.45;1.49	4.15	3.28	0.37604	.	0.563887	0.18026	N	0.154062	T	0.23330	0.0564	M	0.67953	2.075	0.09310	N	0.999997	P;P;B;P;D;P	0.63880	0.91;0.569;0.384;0.91;0.993;0.854	B;B;B;B;P;B	0.44921	0.233;0.05;0.038;0.108;0.464;0.08	T	0.04140	-1.0974	10	0.48119	T	0.1	-19.0806	12.0883	0.53710	0.0:0.0:0.8271:0.1729	.	51;51;51;51;51;51	G5E9H8;E9PGM2;A2AB90;O15533-3;G3V0I4;O15533	.;.;.;.;.;TPSN_HUMAN	L	51	ENSP00000395701:P51L;ENSP00000417949:P51L;ENSP00000419659:P51L;ENSP00000404833:P51L;ENSP00000387803:P51L	ENSP00000404833:P51L	P	-	2	0	TAPBP	33389505	0.529000	0.26322	0.126000	0.21872	0.062000	0.15995	1.892000	0.39748	0.506000	0.28125	-1.624000	0.00789	CCG		0.672	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			7	42	0	0	0	1	0	7	42					A	33281527	G	A	33281527	1	1	269	0	1	0	0	0	0	0	0	0	15549	1116	39	1		1	TAPBP	6	33281527	IGR	SNP	G	TCGA-EL-A4KH-01A-11D-A257-08		33281527	137833540	2	5817											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A4KH-01A-11D-A257-08	TCGA-EL-A4KH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f751da92-34f7-4f6b-93c8-1946d3e1e068	11398e17-c47c-4c24-852f-e642cf930718	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		20	43	0	0	0	1	0	20	43					T	140453136	A	T	140453136	3	4	269	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A4KH-01A-11D-A257-08		140453136	18685527	3	5818											
ZNF777	27153	broad.mit.edu	37	chr7	149152881	149152881	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagaacacaggagtgagggtCccttctggagcacatgtggc	14	10	1	2			TCGA-EL-A4KH-01A-11D-A257-08	TCGA-EL-A4KH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f751da92-34f7-4f6b-93c8-1946d3e1e068	11398e17-c47c-4c24-852f-e642cf930718	g.chr7:149152881C>A	ENST00000247930.4	-	2	556	c.233G>T	c.(232-234)gGa>gTa	p.G78V		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	78					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GAGTGAGGGTCCCTTCTGGAG	0.602																																						ENST00000247930.4																			0				large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(232-234)gGa>gTa		zinc finger protein 777							85	93	90					7																	149152881		1899	4120	6019	SO:0001583	missense	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149152881C>A	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"Zinc fingers, C2H2-type", "-"	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.233G>T	7.37:g.149152881C>A	ENSP00000247930:p.Gly78Val						p.G78V	NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		2	556	-	Melanoma(164;0.165)		78					Q8N2R2|Q8N659	Missense_Mutation	SNP	ENST00000247930.4	37	c.233G>T	CCDS43675.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.852497	0.32699	.	.	ENSG00000196453	ENST00000247930	T	0.06528	3.29	4.66	2.41	0.29592	.	0.319902	0.22690	N	0.056825	T	0.04543	0.0124	N	0.24115	0.695	0.52099	D	0.999941	B	0.30634	0.288	B	0.31191	0.125	T	0.42172	-0.9467	10	0.87932	D	0	-6.0917	6.4182	0.21728	0.0:0.6907:0.1921:0.1172	.	78	Q9ULD5-2	.	V	78	ENSP00000247930:G78V	ENSP00000247930:G78V	G	-	2	0	ZNF777	148783814	0.998000	0.40836	1.000000	0.80357	0.949000	0.60115	1.632000	0.37102	0.932000	0.37266	0.462000	0.41574	GGA		0.602	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		43	74	1	0	7.05121e-23	1	8.13601e-23	43	74					A	149152881	C	A	149152881	3	1	269	1	0	0	0	0	1	0	0	0	18147	855	30	4	2282	4	ZNF777	7	149152881	Missense_Mutation	SNP	C	TCGA-EL-A4KH-01A-11D-A257-08	8699745	149152881	9985782	4	5819											
CACNA2D4	93589	broad.mit.edu	37	chr12	1993484	1993484	+	Frame_Shift_Del	DEL	G	G	-													aatgaggtaagtgaaaactcGgacctaacccacaagacaca							TCGA-EL-A4KH-01A-11D-A257-08	TCGA-EL-A4KH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f751da92-34f7-4f6b-93c8-1946d3e1e068	11398e17-c47c-4c24-852f-e642cf930718	g.chr12:1993484delG	ENST00000382722.5	-	12	1638	c.1276delC	c.(1276-1278)cgafs	p.R426fs	CACNA2D4_ENST00000588077.1_Frame_Shift_Del_p.R362fs|CACNA2D4_ENST00000586184.1_Frame_Shift_Del_p.R426fs|CACNA2D4_ENST00000585708.1_Frame_Shift_Del_p.R362fs|CACNA2D4_ENST00000587995.1_Frame_Shift_Del_p.R426fs|CACNA2D4_ENST00000585732.1_Intron	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	426	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GTGAAAACTCGGACCTAACCC	0.483																																					Colon(2;101 179 21030 23310 28141)	ENST00000382722.5																			0				endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(1276-1278)gafs		calcium channel, voltage-dependent, alpha 2/delta subunit 4							77	85	82					12																	1993484		2019	4188	6207	SO:0001589	frameshift_variant	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:1993484delG	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"Calcium channel subunits"	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.1276delC	12.37:g.1993484delG	ENSP00000372169:p.Arg426fs					CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000587995.1_Frame_Shift_Del_p.R426fs|CACNA2D4_ENST00000588077.1_Frame_Shift_Del_p.R362fs|CACNA2D4_ENST00000585708.1_Frame_Shift_Del_p.R362fs|CACNA2D4_ENST00000586184.1_Frame_Shift_Del_p.R426fs	p.R426fs	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	12	1638	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	426			VWFA.		Q7Z3S8|Q86XZ5|Q8IZS9	Frame_Shift_Del	DEL	ENST00000382722.5	37	c.1276delC	CCDS44785.1																																																																																				0.483	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			5	7						5	7	---	---	---	---	-	1993484	G	-	1993484	7	5	269	1	0	1	0	1	0	0	0	0	2551	1124	39	0	2245	0	CACNA2D4	12	1993484	Frame_Shift_Del	DEL	G	TCGA-EL-A4KH-01A-11D-A257-08		1993484	131858411	5	5820											
CHD4	1108	broad.mit.edu	37	chr12	6707418	6707418	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaacccaggagcagtgccaGtaagacatgccttgccattt	10	11	0	1			TCGA-EL-A4KH-01A-11D-A257-08	TCGA-EL-A4KH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f751da92-34f7-4f6b-93c8-1946d3e1e068	11398e17-c47c-4c24-852f-e642cf930718	g.chr12:6707418G>A	ENST00000357008.2	-	11	1819	c.1656C>T	c.(1654-1656)taC>taT	p.Y552Y	CHD4_ENST00000544040.1_Silent_p.Y545Y|CHD4_ENST00000544484.1_Silent_p.Y549Y|CHD4_ENST00000309577.6_Silent_p.Y552Y	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	552	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				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						AGCAGTGCCAGTAAGACATGC	0.542																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(1654-1656)taC>taT		chromodomain helicase DNA binding protein 4							123	126	125					12																	6707418		2203	4300	6503	SO:0001819	synonymous_variant	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.chr12:6707418G>A	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.1656C>T	12.37:g.6707418G>A						CHD4_ENST00000544484.1_Silent_p.Y549Y|CHD4_ENST00000357008.2_Silent_p.Y552Y|CHD4_ENST00000544040.1_Silent_p.Y545Y	p.Y552Y			Q14839	CHD4_HUMAN			11	1819	-			552			Chromo 1.		Q8IXZ5	Silent	SNP	ENST00000357008.2	37	c.1656C>T	CCDS8552.1																																																																																				0.542	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		6	127	0	0	0	1	0	6	127					A	6707418	G	A	6707418	2	1	269	1	0	0	0	0	0	0	0	1	3327	1024	36	2		2	CHD4	12	6707418	Silent	SNP	G	TCGA-EL-A4KH-01A-11D-A257-08	4713934	6707418	127144477	6	5821											
DNAH10	196385	broad.mit.edu	37	chr12	124332536	124332536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtatctaggtggggcccCcgccggcccagcaggaaccg	14	15	1	0			TCGA-EL-A4KH-01A-11D-A257-08	TCGA-EL-A4KH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f751da92-34f7-4f6b-93c8-1946d3e1e068	11398e17-c47c-4c24-852f-e642cf930718	g.chr12:124332536C>T	ENST00000409039.3	+	32	5514	c.5489C>T	c.(5488-5490)cCc>cTc	p.P1830L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1830	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGTGGGGCCCCCGCCGGCCCA	0.532																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(5488-5490)cCc>cTc		dynein, axonemal, heavy chain 10							79	86	83					12																	124332536		1933	4154	6087	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124332536C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5489C>T	12.37:g.124332536C>T	ENSP00000386770:p.Pro1830Leu						p.P1830L	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	32	5514	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1830			AAA 1 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.5489C>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054516	0.75960	.	.	ENSG00000197653	ENST00000409039	T	0.15718	2.4	5.53	5.53	0.82687	ATPase, AAA+ type, core (1);	0.000000	0.85682	U	0.000000	T	0.50599	0.1625	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57266	-0.7841	10	0.72032	D	0.01	.	19.4428	0.94827	0.0:1.0:0.0:0.0	.	1830	Q8IVF4	DYH10_HUMAN	L	1830	ENSP00000386770:P1830L	ENSP00000386770:P1830L	P	+	2	0	DNAH10	122898489	1.000000	0.71417	1.000000	0.80357	0.452000	0.32318	6.063000	0.71162	2.598000	0.87819	0.555000	0.69702	CCC		0.532	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			4	96	0	0	0	1	0	4	96					T	124332536	C	T	124332536	3	4	269	1	0	0	0	0	1	0	0	0	4598	623	22	2	5615	2	DNAH10	12	124332536	Missense_Mutation	SNP	C	TCGA-EL-A4KH-01A-11D-A257-08	117625118	124332536	9519359	7	5822											
MVD	4597	broad.mit.edu	37	chr16	88719737	88719737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgatgtatttgaccccacCgggggtcggctccatggcca	12	12	0	2	rs113497258	byFrequency	TCGA-EL-A4KH-01A-11D-A257-08	TCGA-EL-A4KH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f751da92-34f7-4f6b-93c8-1946d3e1e068	11398e17-c47c-4c24-852f-e642cf930718	g.chr16:88719737C>T	ENST00000301012.3	-	9	1122	c.1093G>A	c.(1093-1095)Ggt>Agt	p.G365S	CYBA_ENST00000261623.3_5'Flank|CYBA_ENST00000569359.1_5'Flank|CYBA_ENST00000561972.1_5'Flank|CYBA_ENST00000567174.1_5'Flank|MVD_ENST00000568709.1_5'Flank	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	365					cellular protein metabolic process (GO:0044267)|cholesterol biosynthetic process (GO:0006695)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|positive regulation of cell proliferation (GO:0008284)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|diphosphomevalonate decarboxylase activity (GO:0004163)|Hsp70 protein binding (GO:0030544)|protein homodimerization activity (GO:0042803)			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		TTGACCCCACCGGGGGTCGGC	0.672													C|||	22	0.00439297	0.0166	0	5008	,	,		16088	0		0	False		,,,				2504	0					ENST00000301012.3																			0				endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12						c.(1093-1095)Ggt>Agt		mevalonate (diphospho) decarboxylase		C	SER/GLY	37,4355	38.4+/-70.7	0,37,2159	26	30	29		1093	4.2	0.1	16	dbSNP_132	29	3,8595	3.0+/-9.4	0,3,4296	yes	missense	MVD	NM_002461.1	56	0,40,6455	TT,TC,CC		0.0349,0.8424,0.3079	benign	365/401	88719737	40,12950	2196	4299	6495	SO:0001583	missense	4597				cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity	g.chr16:88719737C>T	U49260	CCDS10968.1	16q24.3	2010-04-29			ENSG00000167508	ENSG00000167508	4.1.1.33		7529	protein-coding gene	gene with protein product	"mevalonate pyrophosphate decarboxylase"	603236				8626466	Standard	NM_002461		Approved	MPD	uc002flg.1	P53602	OTTHUMG00000137865	ENST00000301012.3:c.1093G>A	16.37:g.88719737C>T	ENSP00000301012:p.Gly365Ser						p.G365S	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	9	1122	-			365					Q53Y65	Missense_Mutation	SNP	ENST00000301012.3	37	c.1093G>A	CCDS10968.1	15	0.006868131868131868	15	0.03048780487804878	0	0.0	0	0.0	0	0.0	C	15.47	2.843893	0.51164	0.008424	3.49E-4	ENSG00000167508	ENST00000301012	T	0.46451	0.87	4.19	4.19	0.49359	.	0.187576	0.46758	D	0.000277	T	0.15955	0.0384	M	0.68952	2.095	0.35275	D	0.780859	P	0.43826	0.818	B	0.32928	0.155	T	0.53570	-0.8420	10	0.45353	T	0.12	-19.524	14.3839	0.66929	0.0:1.0:0.0:0.0	.	365	P53602	MVD1_HUMAN	S	365	ENSP00000301012:G365S	ENSP00000301012:G365S	G	-	1	0	MVD	87247238	0.090000	0.21635	0.074000	0.20217	0.046000	0.14306	2.710000	0.47169	2.060000	0.61445	0.462000	0.41574	GGT		0.672	MVD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269547.2	NM_002461		3	21	0	0	0	1	0	3	21					T	88719737	C	T	88719737	3	4	269	1	0	0	0	0	1	0	0	0	9994	652	23	1	117	1	MVD	16	88719737	Missense_Mutation	SNP	C	TCGA-EL-A4KH-01A-11D-A257-08		88719737	1635016	8	5823											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290	byFrequency	TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		neuroblastoma RAS viral (v-ras) oncogene homolog							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		95	49	0	0	0	1	0	95	49					C	115256529	T	C	115256529	3	2	270	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-EL-A4KI-01A-11D-A257-08		115256529	133994092	1	5824											
PKP4	8502	broad.mit.edu	37	chr2	159481720	159481720	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aataccaaaccaccgccagaGtggggtccccactgaccctg	9	16	0	2			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr2:159481720G>T	ENST00000389759.3	+	7	1046	c.934G>T	c.(934-936)Gtg>Ttg	p.V312L	PKP4_ENST00000389757.3_Missense_Mutation_p.V312L	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	312					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CACCGCCAGAGTGGGGTCCCC	0.632										HNSCC(62;0.18)																												ENST00000389757.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						c.(934-936)Gtg>Ttg		plakophilin 4							47	44	45					2																	159481720		2203	4300	6503	SO:0001583	missense	8502				cell adhesion	desmosome	protein binding	g.chr2:159481720G>T	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"Armadillo repeat containing"	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.934G>T	2.37:g.159481720G>T	ENSP00000374409:p.Val312Leu	HNSCC(62;0.18)				PKP4_ENST00000389759.3_Missense_Mutation_p.V312L	p.V312L	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN			7	1059	+			312					Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	c.934G>T	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.718921	0.30503	.	.	ENSG00000144283	ENST00000428353;ENST00000389757;ENST00000389759	T;T	0.74632	-0.82;-0.86	5.87	5.87	0.94306	.	0.304042	0.31210	N	0.008048	T	0.69993	0.3173	L	0.34521	1.04	0.48135	D	0.999598	B;B;B;B	0.17465	0.013;0.002;0.007;0.022	B;B;B;B	0.27380	0.047;0.004;0.006;0.079	T	0.61831	-0.6982	10	0.37606	T	0.19	-11.6221	20.5827	0.99408	0.0:0.0:1.0:0.0	.	164;312;312;164	Q6LCG8;Q99569-2;Q99569;F8W7E2	.;.;PKP4_HUMAN;.	L	164;312;312	ENSP00000374407:V312L;ENSP00000374409:V312L	ENSP00000374407:V312L	V	+	1	0	PKP4	159189966	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.025000	0.76449	2.941000	0.99782	0.655000	0.94253	GTG		0.632	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			12	22	1	0	0.010729	1	0.010729	12	22					T	159481720	G	T	159481720	3	4	270	1	0	0	0	0	1	0	0	0	11987	1029	36	4	956	4	PKP4	2	159481720	Missense_Mutation	SNP	G	TCGA-EL-A4KI-01A-11D-A257-08		159481720	83717653	2	5825											
TTN	7273	broad.mit.edu	37	chr2	179629473	179629473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatatcacggcacagaagcGggcaggcttgccagactgca	14	11	1	2	rs374521620		TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr2:179629473G>A	ENST00000591111.1	-	42	9993	c.9769C>T	c.(9769-9771)Cgc>Tgc	p.R3257C	TTN_ENST00000342992.6_Missense_Mutation_p.R3257C|TTN_ENST00000589042.1_Missense_Mutation_p.R3257C|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.R3257C|TTN_ENST00000342175.6_Missense_Mutation_p.R3211C|TTN_ENST00000359218.5_Missense_Mutation_p.R3211C|TTN_ENST00000460472.2_Missense_Mutation_p.R3211C|TTN-AS1_ENST00000578746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13585	Ig-like 19.				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)			GCACAGAAGCGGGCAGGCTTG	0.507																																						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.(9769-9771)Cgc>Tgc		titin							80	83	82					2																	179629473		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179629473G>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.9769C>T	2.37:g.179629473G>A	ENSP00000465570:p.Arg3257Cys					TTN_ENST00000359218.5_Missense_Mutation_p.R3211C|TTN_ENST00000460472.2_Missense_Mutation_p.R3211C|TTN_ENST00000342992.6_Missense_Mutation_p.R3257C|TTN_ENST00000591111.1_Missense_Mutation_p.R3257C|TTN_ENST00000360870.5_Missense_Mutation_p.R3257C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R3211C	p.R3257C	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)		42	9993	-			2987			Ig-like 19.		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.9769C>T		.	.	.	.	.	.	.	.	.	.	G	17.73	3.462563	0.63513	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52	5.69	5.69	0.88448	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85856	0.5794	M	0.81942	2.565	0.58432	D	0.999996	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0	D	0.86936	0.2076	9	0.87932	D	0	.	19.821	0.96592	0.0:0.0:1.0:0.0	.	3211;3211;3211;3257;3257	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	C	3257;3211;3211;3211;3211;3257	ENSP00000343764:R3257C;ENSP00000434586:R3211C;ENSP00000340554:R3211C;ENSP00000352154:R3211C;ENSP00000354117:R3257C	ENSP00000340554:R3211C	R	-	1	0	TTN	179337718	1.000000	0.71417	0.998000	0.56505	0.915000	0.54546	7.894000	0.87336	2.683000	0.91414	0.655000	0.94253	CGC		0.507	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		22	63	0	0	0	1	0	22	63					A	179629473	G	A	179629473	3	1	270	1	0	0	0	0	1	0	0	0	16732	1116	39	1	101503	1	TTN	2	179629473	Missense_Mutation	SNP	G	TCGA-EL-A4KI-01A-11D-A257-08	20147753	179629473	63569900	3	5826											
GABRA2	2555	broad.mit.edu	37	chr4	46390678	46390678	+	Frame_Shift_Del	DEL	C	C	-													agggtcccacaccaagaaaaCaaaaagcaggaactgcatgt					rs41301819		TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr4:46390678delC	ENST00000510861.1	-	2	219	c.46delG	c.(46-48)gttfs	p.V16fs	RP11-436F23.1_ENST00000502455.1_RNA|GABRA2_ENST00000507069.1_Frame_Shift_Del_p.V16fs|GABRA2_ENST00000514090.1_Frame_Shift_Del_p.V16fs|GABRA2_ENST00000515082.1_Frame_Shift_Del_p.V16fs|GABRA2_ENST00000507460.1_Frame_Shift_Del_p.V16fs|GABRA2_ENST00000509716.1_5'UTR|GABRA2_ENST00000540012.1_5'UTR|GABRA2_ENST00000381620.4_Frame_Shift_Del_p.V16fs|GABRA2_ENST00000356504.1_Frame_Shift_Del_p.V16fs			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	16					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					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)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	ACCAAGAAAACAAAAAGCAGG	0.368																																						ENST00000507460.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56						c.(46-48)ttfs		gamma-aminobutyric acid (GABA) A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						157	156	156					4																	46390678		2203	4300	6503	SO:0001589	frameshift_variant	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46390678delC		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4076	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 2"	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.46delG	4.37:g.46390678delC	ENSP00000421828:p.Val16fs					GABRA2_ENST00000509716.1_5'UTR|GABRA2_ENST00000510861.1_Frame_Shift_Del_p.V16fs|GABRA2_ENST00000356504.1_Frame_Shift_Del_p.V16fs|GABRA2_ENST00000507069.1_Frame_Shift_Del_p.V16fs|GABRA2_ENST00000515082.1_Frame_Shift_Del_p.V16fs|GABRA2_ENST00000540012.1_5'UTR|GABRA2_ENST00000381620.4_Frame_Shift_Del_p.V16fs|GABRA2_ENST00000514090.1_Frame_Shift_Del_p.V16fs	p.V16fs			P47869	GBRA2_HUMAN			2	378	-			16					A8K0U7|B7Z1H8|Q59G14	Frame_Shift_Del	DEL	ENST00000510861.1	37	c.46delG	CCDS3471.1																																																																																				0.368	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			18	52						18	52	---	---	---	---	-	46390678	C	-	46390678	7	5	270	1	0	1	0	1	0	0	0	0	6161	478	17	0	1345	0	GABRA2	4	46390678	Frame_Shift_Del	DEL	C	TCGA-EL-A4KI-01A-11D-A257-08		46390678	144763598	4	5827											
RP1L1	94137	broad.mit.edu	37	chr8	10466014	10466014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgactctggctgggcctccCcttcagcctcctgggcatcc	10	18	2	1	rs535482422		TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr8:10466014C>T	ENST00000382483.3	-	4	5817	c.5594G>A	c.(5593-5595)gGg>gAg	p.G1865E		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1945					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)		CTGGGCCTCCCCTTCAGCCTC	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.(5593-5595)gGg>gAg		retinitis pigmentosa 1-like 1							159	157	158					8																	10466014		1899	4114	6013	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10466014C>T	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.5594G>A	8.37:g.10466014C>T	ENSP00000371923:p.Gly1865Glu						p.G1865E	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	5817	-			1865					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.5594G>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	1.540	-0.542143	0.04053	.	.	ENSG00000183638	ENST00000382483	T	0.07567	3.18	2.07	-4.15	0.03881	.	.	.	.	.	T	0.03477	0.0100	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47169	-0.9138	9	0.07644	T	0.81	.	8.3342	0.32204	0.0:0.4029:0.0:0.5971	.	1865	A6NKC6	.	E	1865	ENSP00000371923:G1865E	ENSP00000371923:G1865E	G	-	2	0	RP1L1	10503424	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.312000	0.08113	-1.379000	0.02118	-1.488000	0.00978	GGG		0.632	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			49	167	0	0	0	1	0	49	167					T	10466014	C	T	10466014	3	4	270	1	0	0	0	0	1	0	0	0	13533	623	22	2	1612	2	RP1L1	8	10466014	Missense_Mutation	SNP	C	TCGA-EL-A4KI-01A-11D-A257-08		10466014	135898008	5	5828											
TAF2	6873	broad.mit.edu	37	chr8	120790278	120790278	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttatttttcctgttgtcaTtgtacttgattaagtctaaa	5	7	2	1			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr8:120790278T>C	ENST00000378164.2	-	18	2643	c.2345A>G	c.(2344-2346)aAt>aGt	p.N782S		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	782					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CCTGTTGTCATTGTACTTGAT	0.289																																						ENST00000378164.2																			0				NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49						c.(2344-2346)aAt>aGt		TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa							42	45	44					8																	120790278		2199	4284	6483	SO:0001583	missense	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120790278T>C	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.2345A>G	8.37:g.120790278T>C	ENSP00000367406:p.Asn782Ser						p.N782S	NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		18	2643	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		782					B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	37	c.2345A>G	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.301054	0.81136	.	.	ENSG00000064313	ENST00000378164	T	0.38722	1.12	5.64	5.64	0.86602	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71264	0.3319	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77940	-0.2399	10	0.66056	D	0.02	-27.1167	15.8661	0.79067	0.0:0.0:0.0:1.0	.	782	Q6P1X5	TAF2_HUMAN	S	782	ENSP00000367406:N782S	ENSP00000367406:N782S	N	-	2	0	TAF2	120859459	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.971000	0.88012	2.155000	0.67459	0.477000	0.44152	AAT		0.289	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		5	6	0	0	0	1	0	5	6					C	120790278	T	C	120790278	3	2	270	1	0	0	0	0	1	0	0	0	15521	1493	52	3	1290	3	TAF2	8	120790278	Missense_Mutation	SNP	T	TCGA-EL-A4KI-01A-11D-A257-08	110324264	120790278	25573744	6	5829											
CDH23	64072	broad.mit.edu	37	chr10	73560398	73560398	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctccccctactagggtgaCatctatgtgctgtcttctct	7	15	3	1			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr10:73560398C>T	ENST00000224721.6	+	52	7388	c.7383C>T	c.(7381-7383)gaC>gaT	p.D2461D	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Silent_p.D216D	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2456	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACTAGGGTGACATCTATGTGC	0.507																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(7381-7383)gaC>gaT		cadherin-related 23							52	54	53					10																	73560398		1936	4129	6065	SO:0001819	synonymous_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73560398C>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.7383C>T	10.37:g.73560398C>T						CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Silent_p.D216D	p.D2461D	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			52	7388	+			2456			Cadherin 23.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37	c.7383C>T																																																																																					0.507	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		8	8	0	0	0	1	0	8	8					T	73560398	C	T	73560398	2	4	270	1	0	0	0	0	0	0	0	1	3108	477	17	2		2	CDH23	10	73560398	Silent	SNP	C	TCGA-EL-A4KI-01A-11D-A257-08		73560398	61974349	7	5830											
FAM196A	642938	broad.mit.edu	37	chr10	128973908	128973908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtaaacggtggcaacctccGttttaaacaccctcctgagg	9	13	0	1	rs377391223	byFrequency	TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr10:128973908G>A	ENST00000522781.1	-	4	1307	c.752C>T	c.(751-753)aCg>aTg	p.T251M	FAM196A_ENST00000424811.2_Missense_Mutation_p.T251M|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	251										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GGCAACCTCCGTTTTAAACAC	0.657													G|||	2	0.000399361	0	0	5008	,	,		15461	0		0	False		,,,				2504	0.002					ENST00000522781.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(751-753)aCg>aTg		family with sequence similarity 196, member A		G	MET/THR,	1,4403	2.1+/-5.4	0,1,2201	21	23	23		752,	4.0	0.7	10		23	0,8600		0,0,4300	no	missense,intron	DOCK1,FAM196A	NM_001039762.2,NM_001380.3	81,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,	251/480,	128973908	1,13003	2202	4300	6502	SO:0001583	missense	642938							g.chr10:128973908G>A		CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 141"	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.752C>T	10.37:g.128973908G>A	ENSP00000429763:p.Thr251Met					DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.T251M	p.T251M	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN			4	1307	-			251					B2RNT4|B7ZME7	Missense_Mutation	SNP	ENST00000522781.1	37	c.752C>T	CCDS31312.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575891	0.45902	2.27E-4	0.0	ENSG00000188916	ENST00000522781;ENST00000424811	T;T	0.47528	0.84;0.84	4.02	4.02	0.46733	.	0.234553	0.43919	D	0.000508	T	0.65101	0.2659	M	0.69823	2.125	0.43381	D	0.995488	D;D	0.89917	1.0;0.999	D;P	0.72982	0.979;0.903	T	0.68659	-0.5350	10	0.87932	D	0	.	12.5521	0.56231	0.0:0.0:0.8332:0.1668	.	251;251	B7ZME7;Q6ZSG2	.;F196A_HUMAN	M	251	ENSP00000429763:T251M;ENSP00000428730:T251M	ENSP00000428730:T251M	T	-	2	0	FAM196A	128863898	0.998000	0.40836	0.702000	0.30337	0.309000	0.27889	2.909000	0.48758	2.530000	0.85305	0.563000	0.77884	ACG		0.657	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762		6	16	0	0	0	1	0	6	16					A	128973908	G	A	128973908	3	1	270	1	0	0	0	0	1	0	0	0	5528	1145	40	1	699	1	FAM196A	10	128973908	Missense_Mutation	SNP	G	TCGA-EL-A4KI-01A-11D-A257-08	55413510	128973908	6560839	8	5831											
WNT11	7481	broad.mit.edu	37	chr11	75907721	75907721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagctgcttgcagtgttgcGtctggttcagtgccagggcc	14	12	2	0	rs200871564		TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr11:75907721G>A	ENST00000322563.3	-	2	249	c.125C>T	c.(124-126)aCg>aTg	p.T42M	RP11-619A14.2_ENST00000527314.1_RNA	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	42					adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|bone mineralization (GO:0030282)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cloacal septation (GO:0060197)|embryonic skeletal system development (GO:0048706)|lung-associated mesenchyme development (GO:0060484)|mesonephric duct development (GO:0072177)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor production (GO:0090272)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroendocrine cell differentiation (GO:0061101)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway (GO:0035567)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta2 production (GO:0032915)|protein localization to cell surface (GO:0034394)|protein phosphorylation (GO:0006468)|response to nutrient levels (GO:0031667)|tight junction assembly (GO:0070830)|ureteric bud morphogenesis (GO:0060675)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|protein kinase activator activity (GO:0030295)|Ras GTPase activator activity (GO:0005099)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						GCAGTGTTGCGTCTGGTTCAG	0.637																																						ENST00000322563.3																			0				breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						c.(124-126)aCg>aTg		wingless-type MMTV integration site family, member 11		G	MET/THR	1,4399	2.1+/-5.4	0,1,2199	56	39	45		125	5.1	1.0	11		45	0,8584		0,0,4292	no	missense	WNT11	NM_004626.2	81	0,1,6491	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	42/355	75907721	1,12983	2200	4292	6492	SO:0001583	missense	7481				adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding	g.chr11:75907721G>A	Y12692	CCDS8242.1	11q13.5	2008-02-05			ENSG00000085741	ENSG00000085741		"Wingless-type MMTV integration sites"	12776	protein-coding gene	gene with protein product		603699				9757009	Standard	NM_004626		Approved		uc001oxe.3	O96014	OTTHUMG00000165264	ENST00000322563.3:c.125C>T	11.37:g.75907721G>A	ENSP00000325526:p.Thr42Met						p.T42M	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN			2	249	-			42					B2R8Z6|Q14DE8|Q8WZ98	Missense_Mutation	SNP	ENST00000322563.3	37	c.125C>T	CCDS8242.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965800	0.74131	2.27E-4	0.0	ENSG00000085741	ENST00000322563;ENST00000531317;ENST00000447195	T	0.76448	-1.02	5.06	5.06	0.68205	.	0.181630	0.45126	D	0.000392	T	0.71753	0.3377	N	0.14661	0.345	0.54753	D	0.999981	D	0.71674	0.998	P	0.53146	0.719	T	0.75068	-0.3448	10	0.49607	T	0.09	.	13.2145	0.59851	0.0:0.1597:0.8403:0.0	.	42	O96014	WNT11_HUMAN	M	42	ENSP00000325526:T42M	ENSP00000325526:T42M	T	-	2	0	WNT11	75585369	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.587000	0.74071	2.334000	0.79466	0.655000	0.94253	ACG		0.637	WNT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383083.1	NM_004626		5	14	0	0	0	1	0	5	14					A	75907721	G	A	75907721	3	1	270	1	0	0	0	0	1	0	0	0	17381	1145	40	1	955	1	WNT11	11	75907721	Missense_Mutation	SNP	G	TCGA-EL-A4KI-01A-11D-A257-08		75907721	59098795	9	5832											
IGSF9B	22997	broad.mit.edu	37	chr11	133801601	133801601	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccatggtccccagagtgttGtaaggcacacaggtataagt	11	10	0	1			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr11:133801601G>T	ENST00000321016.8	-	9	1430	c.1200C>A	c.(1198-1200)taC>taA	p.Y400*	IGSF9B_ENST00000533871.2_Nonsense_Mutation_p.Y400*			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	400	Ig-like 4.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCAGAGTGTTGTAAGGCACAC	0.602																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1198-1200)taC>taA		immunoglobulin superfamily, member 9B							40	45	44					11																	133801601		2028	4185	6213	SO:0001587	stop_gained	22997					integral to membrane|plasma membrane		g.chr11:133801601G>T	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.1200C>A	11.37:g.133801601G>T	ENSP00000317980:p.Tyr400*					IGSF9B_ENST00000533871.2_Nonsense_Mutation_p.Y400*	p.Y400*			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	9	1430	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	400			Ig-like 4.		G5EA26	Nonsense_Mutation	SNP	ENST00000321016.8	37	c.1200C>A		.	.	.	.	.	.	.	.	.	.	G	40	7.970073	0.98588	.	.	ENSG00000080854	ENST00000321016;ENST00000533871;ENST00000527648	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.7919	0.23705	0.2184:0.0:0.7816:0.0	.	.	.	.	X	400;242;400	.	ENSP00000317980:Y400X	Y	-	3	2	IGSF9B	133306811	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.998000	0.49465	2.423000	0.82170	0.543000	0.68304	TAC		0.602	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		5	10	1	0	0.000602214	1	0.000648539	5	10					T	133801601	G	T	133801601	4	4	270	1	0	0	0	0	0	1	0	0	7606	1372	48	4	2893	4	IGSF9B	11	133801601	Nonsense_Mutation	SNP	G	TCGA-EL-A4KI-01A-11D-A257-08	57893880	133801601	1204915	10	5833											
GCN1L1	10985	broad.mit.edu	37	chr12	120611492	120611492	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acatgcactgcaggtaggcaTgcctcaccgcagatgtggag	13	11	1	1			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr12:120611492T>A	ENST00000300648.6	-	14	1343	c.1331A>T	c.(1330-1332)cAt>cTt	p.H444L	AC004812.1_ENST00000582675.1_RNA	NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	444					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGGTAGGCATGCCTCACCGC	0.502																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(1330-1332)cAt>cTt		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							90	85	86					12																	120611492		1943	4140	6083	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120611492T>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.1331A>T	12.37:g.120611492T>A	ENSP00000300648:p.His444Leu						p.H444L	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			14	1343	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		444					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.1331A>T	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	T	11.95	1.792762	0.31685	.	.	ENSG00000089154	ENST00000300648	T	0.04194	3.68	5.14	5.14	0.70334	Armadillo-like helical (1);Domain of unknown function DUF3554 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.06508	0.0167	L	0.57536	1.79	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.15665	-1.0429	10	0.07482	T	0.82	-13.0669	14.9422	0.71003	0.0:0.0:0.0:1.0	.	444	Q92616	GCN1L_HUMAN	L	444	ENSP00000300648:H444L	ENSP00000300648:H444L	H	-	2	0	GCN1L1	119095875	1.000000	0.71417	0.975000	0.42487	0.972000	0.66771	7.594000	0.82698	1.934000	0.56057	0.455000	0.32223	CAT		0.502	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			6	52	0	0	0	1	0	6	52					A	120611492	T	A	120611492	3	1	270	1	0	0	0	0	1	0	0	0	6299	1464	51	5	6864	5	GCN1L1	12	120611492	Missense_Mutation	SNP	T	TCGA-EL-A4KI-01A-11D-A257-08		120611492	13240403	11	5834											
RB1	5925	broad.mit.edu	37	chr13	49039494	49039494	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caacaccaacaaaaatgactCcaagatcaaggtgtgtgttt	7	9	1	2			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr13:49039494C>T	ENST00000267163.4	+	23	2617	c.2479C>T	c.(2479-2481)Cca>Tca	p.P827S		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	827	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|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 during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	AAAAATGACTCCAAGATCAAG	0.368		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"D, Mis, N, F, S"	retinoblastoma gene			"L, E, M, O"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"		26	Whole gene deletion(15)|Unknown(11)	p.0?(15)|p.?(11)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(2479-2481)Cca>Tca		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						57	61	59					13																	49039494		2201	4300	6501	SO:0001583	missense	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49039494C>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2479C>T	13.37:g.49039494C>T	ENSP00000267163:p.Pro827Ser	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.P827S	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	23	2617	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	827			Domain C; mediates interaction with E4F1.|Interaction with LIMD1.		A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	c.2479C>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423244	0.83559	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.86694	-2.16	5.66	5.66	0.87406	Rb C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92417	0.7593	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92567	0.6063	10	0.72032	D	0.01	.	19.736	0.96205	0.0:1.0:0.0:0.0	.	827	P06400	RB_HUMAN	S	806;827	ENSP00000267163:P827S	ENSP00000267163:P827S	P	+	1	0	RB1	47937495	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.749000	0.74883	2.669000	0.90835	0.591000	0.81541	CCA		0.368	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			24	34	0	0	0	1	0	24	34					T	49039494	C	T	49039494	3	4	270	1	0	0	0	0	1	0	0	0	13098	855	30	2	2569	2	RB1	13	49039494	Missense_Mutation	SNP	C	TCGA-EL-A4KI-01A-11D-A257-08		49039494	66130384	12	5835											
SLITRK1	114798	broad.mit.edu	37	chr13	84454817	84454817	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcaaaggtctcttcttgggCagggggcgccgggagactag	17	9	2	1			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr13:84454817C>A	ENST00000377084.2	-	1	1711	c.826G>T	c.(826-828)Gcc>Tcc	p.A276S		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	276					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TCTTCTTGGGCAGGGGGCGCC	0.552																																						ENST00000377084.2																			0				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80						c.(826-828)Gcc>Tcc		SLIT and NTRK-like family, member 1							61	64	63					13																	84454817		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84454817C>A	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.826G>T	13.37:g.84454817C>A	ENSP00000366288:p.Ala276Ser						p.A276S	NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	1711	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	276					Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.826G>T	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	C	1.046	-0.677213	0.03378	.	.	ENSG00000178235	ENST00000377084	T	0.41400	1.0	4.95	4.95	0.65309	.	0.053938	0.85682	D	0.000000	T	0.23249	0.0562	N	0.05230	-0.09	0.53005	D	0.999968	B	0.13145	0.007	B	0.12837	0.008	T	0.08827	-1.0703	10	0.12103	T	0.63	-12.6113	16.915	0.86149	0.0:1.0:0.0:0.0	.	276	Q96PX8	SLIK1_HUMAN	S	276	ENSP00000366288:A276S	ENSP00000366288:A276S	A	-	1	0	SLITRK1	83352818	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.366000	0.59492	2.572000	0.86782	0.555000	0.69702	GCC		0.552	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		20	44	1	0	1.01871e-10	1	1.15638e-10	20	44					A	84454817	C	A	84454817	3	1	270	1	0	0	0	0	1	0	0	0	14742	710	25	4	1268	4	SLITRK1	13	84454817	Missense_Mutation	SNP	C	TCGA-EL-A4KI-01A-11D-A257-08	35415323	84454817	30715061	13	5836											
SRRM2	23524	broad.mit.edu	37	chr16	2812763	2812763	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagaagaagcaggtccaattCaagcccagaaatgaagaaat	9	7	1	5			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr16:2812763C>T	ENST00000301740.8	+	11	2783	c.2234C>T	c.(2233-2235)tCa>tTa	p.S745L		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	745	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGGTCCAATTCAAGCCCAGAA	0.468																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(2233-2235)tCa>tTa		serine/arginine repetitive matrix 2							91	95	94					16																	2812763		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2812763C>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2234C>T	16.37:g.2812763C>T	ENSP00000301740:p.Ser745Leu						p.S745L	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	2783	+			745			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.2234C>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	3.912	-0.019808	0.07634	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000426305	T	0.37915	1.17	5.8	5.8	0.92144	.	0.000000	0.51477	D	0.000091	T	0.33904	0.0879	L	0.27053	0.805	0.35032	D	0.758848	D	0.58268	0.982	P	0.50049	0.629	T	0.33394	-0.9870	10	0.29301	T	0.29	-12.9674	13.1768	0.59633	0.0:0.8399:0.1601:0.0	.	745	Q9UQ35	SRRM2_HUMAN	L	745;745;710	ENSP00000301740:S745L	ENSP00000301740:S745L	S	+	2	0	SRRM2	2752764	0.964000	0.33143	0.999000	0.59377	0.687000	0.40016	3.481000	0.53179	2.746000	0.94184	0.563000	0.77884	TCA		0.468	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			15	81	0	0	0	1	0	15	81					T	2812763	C	T	2812763	3	4	270	1	0	0	0	0	1	0	0	0	15168	838	29	2	2272	2	SRRM2	16	2812763	Missense_Mutation	SNP	C	TCGA-EL-A4KI-01A-11D-A257-08		2812763	87541990	14	5837											
SLC47A1	55244	broad.mit.edu	37	chr17	19463805	19463805	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtacatttttactaccgacCggtgagtgctaggattttct	10	8	1	1	rs185769986		TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr17:19463805C>T	ENST00000270570.4	+	12	1191	c.1105C>T	c.(1105-1107)Cga>Tga	p.R369*	RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000395585.1_Splice_Site_p.R369*|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000436810.2_Splice_Site_p.R346*|SNORA59B_ENST00000458926.1_RNA|SLC47A1_ENST00000571335.1_Splice_Site_p.R174*|SLC47A1_ENST00000457293.1_Splice_Site_p.R369*	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	369					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	TACTACCGACCGGTGAGTGCT	0.403													C|||	1	0.000199681	0	0.0014	5008	,	,		21798	0		0	False		,,,				2504	0					ENST00000270570.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.e12+1		solute carrier family 47 (multidrug and toxin extrusion), member 1							178	162	167					17																	19463805		2203	4300	6503	SO:0001630	splice_region_variant	55244					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19463805C>T		CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"Solute carriers"	25588	protein-coding gene	gene with protein product	"multidrug and toxin extrusion 1"	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.1106+1C>T	17.37:g.19463805C>T						SLC47A1_ENST00000457293.1_Splice_Site_p.R369_splice|SLC47A1_ENST00000395585.1_Splice_Site_p.R369_splice|SLC47A1_ENST00000436810.2_Splice_Site_p.R346_splice|SLC47A1_ENST00000571335.1_Splice_Site_p.R174_splice|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000575023.1_Intron	p.R369_splice	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN			12	1191	+	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)		369					Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Splice_Site	SNP	ENST00000270570.4	37	c.1106_splice	CCDS11209.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	16.50	3.139656	0.56936	.	.	ENSG00000142494	ENST00000436810;ENST00000270570;ENST00000457293;ENST00000395585;ENST00000455670;ENST00000424755	.	.	.	5.46	-4.57	0.03421	.	0.680052	0.15370	N	0.265893	.	.	.	.	.	.	0.44834	D	0.997842	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-2.1866	7.4226	0.27081	0.6956:0.1473:0.0814:0.0757	.	.	.	.	X	346;369;369;369;103;81	.	ENSP00000270570:R369X	R	+	1	2	SLC47A1	19404397	0.496000	0.26059	0.432000	0.26747	0.419000	0.31324	-0.167000	0.09940	-1.120000	0.02953	0.462000	0.41574	CGA		0.403	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242	Nonsense_Mutation	16	61	0	0	0	1	0	16	61					T	19463805	C	T	19463805	5	4	270	1	0	0	0	0	0	0	1	0	14647	666	23	1	1151	1	SLC47A1	17	19463805	Splice_Site	SNP	C	TCGA-EL-A4KI-01A-11D-A257-08		19463805	61731405	15	5838											
EFCAB5	374786	broad.mit.edu	37	chr17	28380836	28380836	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacaagatcgacacaaagggTcagtagcagaacaaggatca	10	8	2	2			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr17:28380836T>C	ENST00000394835.3	+	10	2056	c.1864T>C	c.(1864-1866)Tca>Cca	p.S622P	EFCAB5_ENST00000320856.5_Missense_Mutation_p.S622P|EFCAB5_ENST00000378738.3_Missense_Mutation_p.S622P|EFCAB5_ENST00000394832.2_Missense_Mutation_p.S622P|EFCAB5_ENST00000536908.2_Missense_Mutation_p.S566P|EFCAB5_ENST00000541045.1_Missense_Mutation_p.S279P	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	622							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ACACAAAGGGTCAGTAGCAGA	0.463																																						ENST00000394835.3																			0				breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(1864-1866)Tca>Cca		EF-hand calcium binding domain 5							239	225	230					17																	28380836		2083	4215	6298	SO:0001583	missense	374786						calcium ion binding	g.chr17:28380836T>C	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"EF-hand domain containing"	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.1864T>C	17.37:g.28380836T>C	ENSP00000378312:p.Ser622Pro					EFCAB5_ENST00000541045.1_Missense_Mutation_p.S279P|EFCAB5_ENST00000536908.2_Missense_Mutation_p.S566P|EFCAB5_ENST00000320856.5_Missense_Mutation_p.S622P|EFCAB5_ENST00000394832.2_Missense_Mutation_p.S622P|EFCAB5_ENST00000378738.3_Missense_Mutation_p.S622P	p.S622P	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN			10	2056	+			622					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.1864T>C	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	T	12.44	1.938610	0.34189	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000541045;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.83	2.13	0.27403	.	0.723385	0.11968	N	0.512046	T	0.54615	0.1869	M	0.67953	2.075	0.09310	N	1	D;D;D;P;B;P	0.89917	0.999;1.0;1.0;0.859;0.111;0.859	D;D;D;P;B;B	0.91635	0.996;0.998;0.999;0.507;0.041;0.274	T	0.37776	-0.9691	10	0.34782	T	0.22	-10.1655	3.4961	0.07655	0.0:0.272:0.1974:0.5306	.	566;566;622;622;622;622	B4DS75;F5GYL2;A8MSY9;B5MEA3;E7EVS9;A4FU69	.;.;.;.;.;EFCB5_HUMAN	P	566;365;279;622;622;622;622;566;428	ENSP00000440619:S566P;ENSP00000445575:S279P;ENSP00000378312:S622P;ENSP00000322003:S622P;ENSP00000378309:S622P;ENSP00000368012:S622P;ENSP00000417009:S428P	ENSP00000322003:S622P	S	+	1	0	EFCAB5	25404962	0.002000	0.14202	0.056000	0.19401	0.007000	0.05969	0.441000	0.21611	1.028000	0.39785	0.533000	0.62120	TCA		0.463	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		38	132	0	0	0	1	0	38	132					C	28380836	T	C	28380836	3	2	270	1	0	0	0	0	1	0	0	0	4938	1667	58	3	1902	3	EFCAB5	17	28380836	Missense_Mutation	SNP	T	TCGA-EL-A4KI-01A-11D-A257-08	8917031	28380836	52814374	16	5839											
KCTD2	23510	broad.mit.edu	37	chr17	73055633	73055633	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaagcacgtgtacagagtccTgcagtgtcaggaagaagagc	14	8	1	3			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr17:73055633T>A	ENST00000322444.6	+	4	575	c.569T>A	c.(568-570)cTg>cAg	p.L190Q	KCTD2_ENST00000581589.1_5'UTR	NM_015353.1	NP_056168.1	Q14681	KCTD2_HUMAN	potassium channel tetramerization domain containing 2	190					protein homooligomerization (GO:0051260)		protein complex binding (GO:0032403)			kidney(1)|lung(2)	3	all_lung(278;0.226)					TACAGAGTCCTGCAGTGTCAG	0.567																																						ENST00000322444.6																			0				kidney(1)|lung(2)	3						c.(568-570)cTg>cAg		potassium channel tetramerization domain containing 2							106	85	92					17																	73055633		2203	4300	6503	SO:0001583	missense	23510					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr17:73055633T>A	BC033329	CCDS32728.1	17q25.2	2013-06-20	2013-06-20			ENSG00000180901			21294	protein-coding gene	gene with protein product		613422	"potassium channel tetramerisation domain containing 2"			12620391	Standard	XR_248405		Approved	KIAA0176	uc002jmp.3	Q14681		ENST00000322444.6:c.569T>A	17.37:g.73055633T>A	ENSP00000312814:p.Leu190Gln					KCTD2_ENST00000581589.1_5'UTR	p.L190Q	NM_015353.1	NP_056168.1	Q14681	KCTD2_HUMAN			4	575	+	all_lung(278;0.226)		190						Missense_Mutation	SNP	ENST00000322444.6	37	c.569T>A	CCDS32728.1	.	.	.	.	.	.	.	.	.	.	T	31	5.085562	0.94100	.	.	ENSG00000180901	ENST00000322444;ENST00000375286	T	0.59638	0.25	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000001	T	0.79353	0.4431	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.83450	0.0048	10	0.87932	D	0	.	15.837	0.78805	0.0:0.0:0.0:1.0	.	190	Q14681	KCTD2_HUMAN	Q	190;172	ENSP00000312814:L190Q	ENSP00000312814:L190Q	L	+	2	0	KCTD2	70567228	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.959000	0.87885	2.140000	0.66376	0.460000	0.39030	CTG		0.567	KCTD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445538.1			17	19	0	0	0	1	0	17	19					A	73055633	T	A	73055633	3	1	270	1	0	0	0	0	1	0	0	0	8107	1580	55	5	583	5	KCTD2	17	73055633	Missense_Mutation	SNP	T	TCGA-EL-A4KI-01A-11D-A257-08	44674797	73055633	8139577	17	5840											
ECSIT	51295	broad.mit.edu	37	chr19	11624902	11624902	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttccccaccaggcgcctgCccaaacaggtcctcaaaggg	10	17	1	0			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr19:11624902C>T	ENST00000270517.7	-	3	366	c.231G>A	c.(229-231)ggG>ggA	p.G77G	ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000591104.1_Silent_p.G77G|ECSIT_ENST00000417981.2_Intron|RN7SL833P_ENST00000498758.2_RNA|ECSIT_ENST00000592312.1_5'UTR|ECSIT_ENST00000591352.1_5'Flank|ECSIT_ENST00000252440.7_Silent_p.G77G	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	77					BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						CAGGCGCCTGCCCAAACAGGT	0.632																																						ENST00000270517.7																			0				kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						c.(229-231)ggG>ggA		ECSIT signalling integrator							51	50	50					19																	11624902		2203	4300	6503	SO:0001819	synonymous_variant	51295				innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding	g.chr19:11624902C>T	BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"Mitochondrial respiratory chain complex assembly factors"	29548	protein-coding gene	gene with protein product	"signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"	608388	"ECSIT homolog (Drosophila)"			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.231G>A	19.37:g.11624902C>T						ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000592312.1_5'UTR|ECSIT_ENST00000417981.2_Intron|ECSIT_ENST00000591104.1_Silent_p.G77G|ECSIT_ENST00000252440.7_Silent_p.G77G	p.G77G	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN			3	366	-			77					E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Silent	SNP	ENST00000270517.7	37	c.231G>A	CCDS12262.1																																																																																				0.632	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442603.2	NM_016581		19	22	0	0	0	1	0	19	22					T	11624902	C	T	11624902	2	4	270	1	0	0	0	0	0	0	0	1	4900	726	26	2		2	ECSIT	19	11624902	Silent	SNP	C	TCGA-EL-A4KI-01A-11D-A257-08		11624902	47504081	18	5841											
NWD1	284434	broad.mit.edu	37	chr19	16908636	16908636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatgaagacatggtggagaCggctgtttttggtactgaga	14	5	0	4	rs140641936	byFrequency	TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr19:16908636C>T	ENST00000552788.1	+	14	3398	c.3398C>T	c.(3397-3399)aCg>aTg	p.T1133M	NWD1_ENST00000524140.2_Missense_Mutation_p.T1133M|NWD1_ENST00000339803.6_Missense_Mutation_p.T998M|NWD1_ENST00000379808.3_Missense_Mutation_p.T1133M|NWD1_ENST00000549814.1_Missense_Mutation_p.T1133M|NWD1_ENST00000523826.1_Missense_Mutation_p.T927M			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1133							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATGGTGGAGACGGCTGTTTTT	0.542																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(3397-3399)aCg>aTg		NACHT and WD repeat domain containing 1		C	MET/THR	0,4406		0,0,2203	297	272	281		3398	3.6	0.2	19	dbSNP_134	281	4,8596	3.7+/-12.6	0,4,4296	no	missense	NWD1	NM_001007525.3	81	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging	1133/1433	16908636	4,13002	2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16908636C>T	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3398C>T	19.37:g.16908636C>T	ENSP00000447224:p.Thr1133Met					NWD1_ENST00000549814.1_Missense_Mutation_p.T1133M|NWD1_ENST00000552788.1_Missense_Mutation_p.T1133M|NWD1_ENST00000523826.1_Missense_Mutation_p.T927M|NWD1_ENST00000379808.3_Missense_Mutation_p.T1133M|NWD1_ENST00000339803.6_Missense_Mutation_p.T998M	p.T1133M	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			16	3816	+			1133					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.3398C>T		.	.	.	.	.	.	.	.	.	.	C	8.793	0.931090	0.18131	0.0	4.65E-4	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.70986	-0.23;-0.53;-0.23;3.51;3.51;3.51	4.62	3.58	0.41010	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.299519	0.31784	N	0.007074	T	0.57562	0.2062	N	0.24115	0.695	0.21064	N	0.999794	P;P;P	0.41345	0.661;0.746;0.63	B;B;B	0.41510	0.212;0.359;0.271	T	0.54262	-0.8320	10	0.62326	D	0.03	-4.2155	10.6039	0.45384	0.0:0.9041:0.0:0.0959	.	1133;1133;998	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	M	998;1133;1133;1133;927;1133;998	ENSP00000428579:T1133M;ENSP00000447548:T1133M;ENSP00000369136:T1133M;ENSP00000428955:T927M;ENSP00000447224:T1133M;ENSP00000340159:T998M	ENSP00000340159:T998M	T	+	2	0	NWD1	16769636	0.263000	0.24083	0.152000	0.22495	0.016000	0.09150	1.992000	0.40737	1.151000	0.42436	0.561000	0.74099	ACG		0.542	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		102	162	0	0	0	1	0	102	162					T	16908636	C	T	16908636	3	4	270	1	0	0	0	0	1	0	0	0	10781	536	19	1	3039	1	NWD1	19	16908636	Missense_Mutation	SNP	C	TCGA-EL-A4KI-01A-11D-A257-08	5283734	16908636	42220347	19	5842											
PRND	23627	broad.mit.edu	37	chr20	4705313	4705313	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcaagtggaaccggaaggCcctgcccagcactgcccaga	11	14	1	1	rs368923140		TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr20:4705313C>T	ENST00000305817.2	+	2	187	c.116C>T	c.(115-117)gCc>gTc	p.A39V		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	39	Flexible tail.				protein homooligomerization (GO:0051260)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						AACCGGAAGGCCCTGCCCAGC	0.622																																						ENST00000305817.2																			0				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						c.(115-117)gCc>gTc		prion protein 2 (dublet)		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	62	53	56		116	2.2	0.0	20		56	0,8600		0,0,4300	no	missense	PRND	NM_012409.2	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	39/177	4705313	1,13005	2203	4300	6503	SO:0001583	missense	23627				protein homooligomerization	anchored to membrane|plasma membrane		g.chr20:4705313C>T	AF106918	CCDS13081.1	20p13	2013-09-19			ENSG00000171864	ENSG00000171864			15748	protein-coding gene	gene with protein product	"prion-like protein doppel"	604263				10525406, 10577243	Standard	NM_012409		Approved	DPL, dJ1068H6.4, DOPPEL, PrPLP	uc002wkz.3	Q9UKY0	OTTHUMG00000031789	ENST00000305817.2:c.116C>T	20.37:g.4705313C>T	ENSP00000306900:p.Ala39Val						p.A39V	NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN			2	187	+			39			Flexible tail.		A7U7M5|Q9H311|Q9H312|Q9NTM4	Missense_Mutation	SNP	ENST00000305817.2	37	c.116C>T	CCDS13081.1	.	.	.	.	.	.	.	.	.	.	C	2.775	-0.254911	0.05829	2.27E-4	0.0	ENSG00000171864	ENST00000305817	D	0.82803	-1.65	5.47	2.19	0.27852	.	0.960811	0.08524	N	0.932934	T	0.70133	0.3189	L	0.28458	0.855	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.52373	-0.8584	10	0.12430	T	0.62	-7.6194	6.2887	0.21047	0.0:0.6368:0.1682:0.195	.	39	Q9UKY0	PRND_HUMAN	V	39	ENSP00000306900:A39V	ENSP00000306900:A39V	A	+	2	0	PRND	4653313	0.001000	0.12720	0.001000	0.08648	0.334000	0.28698	0.824000	0.27379	0.659000	0.30945	0.557000	0.71058	GCC		0.622	PRND-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077827.2	NM_012409		4	51	0	0	0	1	0	4	51					T	4705313	C	T	4705313	3	4	270	1	0	0	0	0	1	0	0	0	12543	739	26	2	118	2	PRND	20	4705313	Missense_Mutation	SNP	C	TCGA-EL-A4KI-01A-11D-A257-08		4705313	58320207	20	5843											
C22orf9	23313	broad.mit.edu	37	chr22	45601543	45601543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttatggatgtgaatgtcccCgccgtcagcacgtgtgcaca	11	12	1	1			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr22:45601543C>T	ENST00000336156.5	-	4	447	c.382G>A	c.(382-384)Ggg>Agg	p.G128R	KIAA0930_ENST00000251993.7_Missense_Mutation_p.G133R|KIAA0930_ENST00000474515.1_5'Flank|KIAA0930_ENST00000443310.3_Missense_Mutation_p.G110R|KIAA0930_ENST00000391627.2_Missense_Mutation_p.G94R	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	128										endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						TGAATGTCCCCGCCGTCAGCA	0.617																																						ENST00000336156.4																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						c.(382-384)Ggg>Agg		KIAA0930							85	77	80					22																	45601543		2203	4300	6503	SO:0001583	missense	23313						protein binding	g.chr22:45601543C>T	AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 9"	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.382G>A	22.37:g.45601543C>T	ENSP00000336720:p.Gly128Arg					KIAA0930_ENST00000251993.7_Missense_Mutation_p.G133R|KIAA0930_ENST00000391627.2_Missense_Mutation_p.G94R|KIAA0930_ENST00000443310.3_Missense_Mutation_p.G110R	p.G128R	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN			4	447	-			128					B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Missense_Mutation	SNP	ENST00000336156.5	37	c.382G>A	CCDS33665.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193788	0.58017	.	.	ENSG00000100364	ENST00000336156;ENST00000251993;ENST00000391627;ENST00000443310;ENST00000414854;ENST00000424508	.	.	.	4.59	4.59	0.56863	.	0.156544	0.56097	D	0.000024	T	0.62780	0.2456	L	0.28694	0.88	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;0.995;0.999	D;P;P;P	0.91635	0.999;0.806;0.578;0.859	T	0.55933	-0.8062	9	0.12430	T	0.62	-34.2283	15.9647	0.79961	0.0:1.0:0.0:0.0	.	110;128;133;199	B0AZU2;Q6ICG6;Q6ICG6-2;Q8IUY4	.;K0930_HUMAN;.;.	R	128;133;94;110;94;110	.	ENSP00000251993:G133R	G	-	1	0	KIAA0930	43980207	1.000000	0.71417	0.763000	0.31416	0.100000	0.18952	7.485000	0.81204	2.275000	0.75901	0.561000	0.74099	GGG		0.617	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321975.2	NM_001009880		9	12	0	0	0	1	0	9	12					T	45601543	C	T	45601543	3	4	270	1	0	0	0	0	1	0	0	0	2151	652	23	1	860	1	C22orf9	22	45601543	Missense_Mutation	SNP	C	TCGA-EL-A4KI-01A-11D-A257-08		45601543	5703023	21	5844											
RLIM	51132	broad.mit.edu	37	chrX	73811938	73811938	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtcattatctgccttaacatGgtctgaattgcaacagatgt	8	8	3	2	rs61754468		TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					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)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			6	Substitution - coding silent(6)	p.T404T(6)	lung(3)|urinary_tract(1)|kidney(1)|endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1210-1212)acC>acG		ring finger protein, LIM domain interacting							102	92	95					X																	73811938		2203	4300	6503	SO:0001819	synonymous_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811938G>C	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"RING-type (C3HC4) zinc fingers"	13429	protein-coding gene	gene with protein product	"ring zinc finger protein NY-REN-43antigen", "LIM domain interacting ring finger protein"	300379	"ring finger protein 12"	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1212C>G	X.37:g.73811938G>C						RLIM_ENST00000349225.2_Silent_p.T404T	p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1430	-			404					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.1212C>G	CCDS14427.1																																																																																				0.413	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		4	31	0	0	0	1	0	4	31					C	73811938	G	C	73811938	2	2	270	1	0	0	0	0	0	0	0	1	13390	1335	47	4		4	RLIM	23	73811938	Silent	SNP	G	TCGA-EL-A4KI-01A-11D-A257-08		73811938	81458622	22	5845											
MAGI3	260425	broad.mit.edu	37	chr1	114137161	114137161	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttgtaagaaagccaaagccCctgaagactgtgaagatgga	11	7	0	5			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr1:114137161C>A	ENST00000307546.9	+	6	1072	c.997C>A	c.(997-999)Cct>Act	p.P333T	MAGI3_ENST00000369617.4_Missense_Mutation_p.P333T|MAGI3_ENST00000369615.1_Missense_Mutation_p.P333T|MAGI3_ENST00000369611.4_Missense_Mutation_p.P333T	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	333					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-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)		AGCCAAAGCCCCTGAAGACTG	0.368																																						ENST00000369615.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(997-999)Cct>Act		membrane associated guanylate kinase, WW and PDZ domain containing 3							100	104	102					1																	114137161		2203	4300	6503	SO:0001583	missense	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114137161C>A	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.997C>A	1.37:g.114137161C>A	ENSP00000304604:p.Pro333Thr					MAGI3_ENST00000369611.4_Missense_Mutation_p.P333T|MAGI3_ENST00000369617.4_Missense_Mutation_p.P333T|MAGI3_ENST00000307546.9_Missense_Mutation_p.P333T	p.P333T	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_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)	6	1059	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	333					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	c.997C>A	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683308	0.88542	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.20332	2.33;2.08;2.31;2.31	5.53	5.53	0.82687	.	0.049103	0.85682	D	0.000000	T	0.37237	0.0996	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.982;0.996	T	0.13388	-1.0511	10	0.87932	D	0	-17.557	19.4668	0.94946	0.0:1.0:0.0:0.0	.	333;333;333	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	T	333	ENSP00000358630:P333T;ENSP00000304604:P333T;ENSP00000358628:P333T;ENSP00000358624:P333T	ENSP00000304604:P333T	P	+	1	0	MAGI3	113938684	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.398000	0.79919	2.613000	0.88420	0.585000	0.79938	CCT		0.368	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		4	115	1	0	0.184627	1	0.18913	4	115					A	114137161	C	A	114137161	3	1	271	1	0	0	0	0	1	0	0	0	9192	623	22	4	1019	4	MAGI3	1	114137161	Missense_Mutation	SNP	C	TCGA-EM-A1CS-01A-11D-A13W-08		114137161	135113460	1	5846											
NRXN1	9378	broad.mit.edu	37	chr2	50779760	50779760	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctggaagtccacatgatacCattctccatcattcactttc	4	13	4	1			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr2:50779760C>A	ENST00000406316.2	-	9	3200	c.1724G>T	c.(1723-1725)tGg>tTg	p.W575L	NRXN1_ENST00000401669.2_Missense_Mutation_p.W575L|NRXN1_ENST00000406859.3_Missense_Mutation_p.W575L|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Missense_Mutation_p.W567L|NRXN1_ENST00000404971.1_Missense_Mutation_p.W615L|NRXN1_ENST00000405472.3_Missense_Mutation_p.W567L	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	575	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CACATGATACCATTCTCCATC	0.463																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(1843-1845)tGg>tTg		neurexin 1							146	136	139					2																	50779760		1896	4108	6004	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50779760C>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1724G>T	2.37:g.50779760C>A	ENSP00000384311:p.Trp575Leu					NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406316.2_Missense_Mutation_p.W575L|NRXN1_ENST00000405472.3_Missense_Mutation_p.W567L|NRXN1_ENST00000401669.2_Missense_Mutation_p.W575L|NRXN1_ENST00000406859.3_Missense_Mutation_p.W575L|NRXN1_ENST00000402717.3_Missense_Mutation_p.W567L	p.W615L	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		10	3183	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	575			Laminin G-like 3.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.1844G>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989854	0.93106	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.92097	0.7495	H	0.94964	3.605	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.985;0.999;1.0	D	0.93322	0.6693	10	0.87932	D	0	.	20.3495	0.98807	0.0:1.0:0.0:0.0	.	615;575;567	Q9ULB1-3;F8WB18;A7E294	.;.;.	L	615;575;567;575;616;567;575	ENSP00000385142:W615L;ENSP00000384311:W575L;ENSP00000434015:W567L;ENSP00000385017:W575L;ENSP00000385434:W567L;ENSP00000385681:W575L	ENSP00000385017:W575L	W	-	2	0	NRXN1	50633264	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.764000	0.85297	2.814000	0.96858	0.591000	0.81541	TGG		0.463	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			5	155	1	0	0.184627	1	0.18913	5	155					A	50779760	C	A	50779760	3	1	271	1	0	0	0	0	1	0	0	0	10665	595	21	4	3122	4	NRXN1	2	50779760	Missense_Mutation	SNP	C	TCGA-EM-A1CS-01A-11D-A13W-08		50779760	192419613	2	5847											
GLI2	2736	broad.mit.edu	37	chr2	121708835	121708835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggccccctgccctcagcGgcagccctgtcatctctgac	10	19	3	1	rs540240518		TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr2:121708835G>A	ENST00000452319.1	+	4	331	c.271G>A	c.(271-273)Ggc>Agc	p.G91S	GLI2_ENST00000361492.4_Missense_Mutation_p.G91S|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TGCCCTCAGCGGCAGCCCTGT	0.632													G|||	1	0.000199681	0	0.0014	5008	,	,		17960	0		0	False		,,,				2504	0					ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(271-273)Ggc>Agc		GLI family zinc finger 2							98	111	107					2																	121708835		2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121708835G>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.271G>A	2.37:g.121708835G>A	ENSP00000390436:p.Gly91Ser					GLI2_ENST00000361492.4_Missense_Mutation_p.G91S|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR	p.G91S			P10070	GLI2_HUMAN			4	331	+	Renal(3;0.0496)	Prostate(154;0.0623)	91						Missense_Mutation	SNP	ENST00000452319.1	37	c.271G>A	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043608	0.75732	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.41400	1.0;1.0	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.53753	0.1816	L	0.48642	1.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.70016	0.958;0.967;0.955	T	0.40496	-0.9560	10	0.05525	T	0.97	.	19.1082	0.93305	0.0:0.0:1.0:0.0	.	91;91;91	B4DT63;P10070;Q0VGA0	.;GLI2_HUMAN;.	S	91	ENSP00000390436:G91S;ENSP00000354586:G91S	ENSP00000354586:G91S	G	+	1	0	GLI2	121425305	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	6.611000	0.74183	2.751000	0.94390	0.555000	0.69702	GGC		0.632	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		6	194	0	0	0	1	0	6	194					A	121708835	G	A	121708835	3	1	271	1	0	0	0	0	1	0	0	0	6438	1116	39	1	281	1	GLI2	2	121708835	Missense_Mutation	SNP	G	TCGA-EM-A1CS-01A-11D-A13W-08	70929075	121708835	121490538	3	5848											
ADAMTS19	171019	broad.mit.edu	37	chr5	128863519	128863519	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agcttattctgctccatgaaActccagtaagaaagtcttga	7	9	2	3			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr5:128863519A>T	ENST00000274487.4	+	5	1292	c.1147A>T	c.(1147-1149)Act>Tct	p.T383S	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	383	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					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)		GCTCCATGAAACTCCAGTAAG	0.308																																						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.(1147-1149)Act>Tct		ADAM metallopeptidase with thrombospondin type 1 motif, 19							88	94	92					5																	128863519		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128863519A>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.1147A>T	5.37:g.128863519A>T	ENSP00000274487:p.Thr383Ser					CTC-575N7.1_ENST00000503616.1_RNA	p.T383S	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)	5	1292	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	383			Peptidase M12B.			Missense_Mutation	SNP	ENST00000274487.4	37	c.1147A>T	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	A	14.13	2.443333	0.43429	.	.	ENSG00000145808	ENST00000274487	T	0.62639	0.01	4.41	4.41	0.53225	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.158954	0.41712	D	0.000833	T	0.35770	0.0943	N	0.03608	-0.345	0.31821	N	0.625927	B	0.19200	0.034	B	0.26310	0.068	T	0.38156	-0.9674	9	.	.	.	.	9.5679	0.39409	0.7405:0.0:0.0:0.2595	.	383	Q8TE59	ATS19_HUMAN	S	383	ENSP00000274487:T383S	.	T	+	1	0	ADAMTS19	128891418	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.529000	0.53532	2.209000	0.71365	0.460000	0.39030	ACT		0.308	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		48	79	0	0	0	1	0	48	79					T	128863519	A	T	128863519	3	4	271	1	0	0	0	0	1	0	0	0	264	43	2	5	1165	5	ADAMTS19	5	128863519	Missense_Mutation	SNP	A	TCGA-EM-A1CS-01A-11D-A13W-08		128863519	52051741	4	5849											
GPLD1	2822	broad.mit.edu	37	chr6	24446031	24446031	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cctcccaaggctctttttctCatctcggatgtgtaacaaat	6	12	3	0			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr6:24446031C>A	ENST00000230036.1	-	19	1959	c.1849G>T	c.(1849-1851)Gag>Tag	p.E617*		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	617					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						CTCTTTTTCTCATCTCGGATG	0.532																																						ENST00000230036.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						c.(1849-1851)Gag>Tag		glycosylphosphatidylinositol specific phospholipase D1							112	111	111					6																	24446031		2203	4300	6503	SO:0001587	stop_gained	2822					extracellular region	glycosylphosphatidylinositol phospholipase D activity	g.chr6:24446031C>A	L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.1849G>T	6.37:g.24446031C>A	ENSP00000230036:p.Glu617*						p.E617*	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN			19	1959	-			617					Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Nonsense_Mutation	SNP	ENST00000230036.1	37	c.1849G>T	CCDS4553.1	.	.	.	.	.	.	.	.	.	.	C	35	5.555615	0.96514	.	.	ENSG00000112293	ENST00000230036	.	.	.	5.49	4.62	0.57501	.	0.478268	0.20745	N	0.086463	.	.	.	.	.	.	0.24283	N	0.995196	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-12.6895	11.0533	0.47903	0.0:0.8494:0.0:0.1506	.	.	.	.	X	617	.	ENSP00000230036:E617X	E	-	1	0	GPLD1	24554010	0.009000	0.17119	0.015000	0.15790	0.404000	0.30871	1.849000	0.39318	1.301000	0.44836	0.655000	0.94253	GAG		0.532	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503		4	105	1	0	1	1	1	4	105					A	24446031	C	A	24446031	4	1	271	1	0	0	0	0	0	1	0	0	6614	835	29	4	701	4	GPLD1	6	24446031	Nonsense_Mutation	SNP	C	TCGA-EM-A1CS-01A-11D-A13W-08		24446031	146669036	5	5850											
ABCC10	89845	broad.mit.edu	37	chr6	43415125	43415125	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acctgtgacctgccccaggaAccccagggccagccactgca	10	18	0	1			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chr6:43415125A>C	ENST00000372530.4	+	17	3899	c.3684A>C	c.(3682-3684)gaA>gaC	p.E1228D	ABCC10_ENST00000244533.3_Missense_Mutation_p.E1200D	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1228					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)	TGCCCCAGGAACCCCAGGGCC	0.632																																						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.(3598-3600)gaA>gaC		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							35	38	37					6																	43415125		2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43415125A>C	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.3684A>C	6.37:g.43415125A>C	ENSP00000361608:p.Glu1228Asp					ABCC10_ENST00000372530.4_Missense_Mutation_p.E1228D	p.E1200D	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)		15	3959	+	all_lung(25;0.00536)		1228			ABC transmembrane type-1 2.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.3600A>C	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.455118	0.84209	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.94417	-3.42;-3.42	5.22	3.14	0.36123	.	0.160266	0.42964	D	0.000625	D	0.94905	0.8353	M	0.66378	2.025	0.58432	D	0.999995	D;D	0.76494	0.999;0.965	D;P	0.72982	0.979;0.535	D	0.94112	0.7372	10	0.48119	T	0.1	-6.2539	10.3735	0.44068	0.2203:0.0:0.7797:0.0	.	1200;1228	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	D	1228;1200	ENSP00000361608:E1228D;ENSP00000244533:E1200D	ENSP00000244533:E1200D	E	+	3	2	ABCC10	43523103	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.892000	0.39748	1.166000	0.42689	-0.462000	0.05337	GAA		0.632	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		6	44	0	0	0	1	0	6	44					C	43415125	A	C	43415125	3	2	271	1	0	0	0	0	1	0	0	0	50	40	2	5	3658	5	ABCC10	6	43415125	Missense_Mutation	SNP	A	TCGA-EM-A1CS-01A-11D-A13W-08	18969094	43415125	127699942	6	5851											
MUC17	140453	broad.mit.edu	37	chr7	100681033	100681033	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtatacctctcagcaccacGccggtggccagtcctgaggc	11	15	1	1	rs368015481	byFrequency	TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr7:100681033G>A	ENST00000306151.4	+	3	6400	c.6336G>A	c.(6334-6336)acG>acA	p.T2112T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2112	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAGCACCACGCCGGTGGCCA	0.498													G|||	3	0.000599042	0	0	5008	,	,		25736	0.002		0.001	False		,,,				2504	0					ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(6334-6336)acG>acA		mucin 17, cell surface associated		G		0,4406		0,0,2203	209	212	211		6336	-1.9	0.0	7		211	3,8597	819.1+/-406.8	0,3,4297	no	coding-synonymous	MUC17	NM_001040105.1		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		2112/4494	100681033	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681033G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6336G>A	7.37:g.100681033G>A							p.T2112T	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	6400	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2112			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.6336G>A	CCDS34711.1																																																																																				0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	436	0	0	0	1	0	6	436					A	100681033	G	A	100681033	2	1	271	1	0	0	0	0	0	0	0	1	9974	1074	38	1		1	MUC17	7	100681033	Silent	SNP	G	TCGA-EM-A1CS-01A-11D-A13W-08		100681033	58457630	7	5852											
AMBP	259	broad.mit.edu	37	chr9	116839008	116839008	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accgatggccaggttgtaccActtcccatagatctaggagg	11	11	1	1			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr9:116839008A>C	ENST00000265132.3	-	2	392	c.130T>G	c.(130-132)Tgg>Ggg	p.W44G		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	44					cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	AGGTTGTACCACTTCCCATAG	0.597																																						ENST00000265132.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11						c.(130-132)Tgg>Ggg		alpha-1-microglobulin/bikunin precursor	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						110	78	89					9																	116839008		2203	4300	6503	SO:0001583	missense	259				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity	g.chr9:116839008A>C	X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"Lipocalins"	453	protein-coding gene	gene with protein product	"growth-inhibiting protein 19", "uristatin", "complex-forming glycoprotein heterogeneous in charge", "bikunin", "inter-alpha-trypsin inhibitor light chain", "protein HC", "uronic-acid-rich protein", "trypstatin"	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.130T>G	9.37:g.116839008A>C	ENSP00000265132:p.Trp44Gly						p.W44G	NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN			2	392	-			44					P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Missense_Mutation	SNP	ENST00000265132.3	37	c.130T>G	CCDS6800.1	.	.	.	.	.	.	.	.	.	.	A	15.99	2.995141	0.54147	.	.	ENSG00000106927	ENST00000265132	D	0.99557	-6.16	3.86	3.86	0.44501	Lipocalin conserved site (1);Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.000000	0.85682	D	0.000000	D	0.99527	0.9831	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98797	1.0738	10	0.59425	D	0.04	.	8.9958	0.36052	1.0:0.0:0.0:0.0	.	44	P02760	AMBP_HUMAN	G	44	ENSP00000265132:W44G	ENSP00000265132:W44G	W	-	1	0	AMBP	115878829	1.000000	0.71417	0.969000	0.41365	0.962000	0.63368	5.463000	0.66712	1.624000	0.50355	0.459000	0.35465	TGG		0.597	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	NM_001633		19	49	0	0	0	1	0	19	49					C	116839008	A	C	116839008	3	2	271	1	0	0	0	0	1	0	0	0	564	159	6	5	964	5	AMBP	9	116839008	Missense_Mutation	SNP	A	TCGA-EM-A1CS-01A-11D-A13W-08		116839008	24374423	8	5853											
DMBT1	1755	broad.mit.edu	37	chr10	124336139	124336139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccattgccctggatgatgtgCgctgctcaggacacgaatcc	11	13	1	1			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr10:124336139C>T	ENST00000338354.3	+	7	614	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	DMBT1_ENST00000359586.6_Missense_Mutation_p.R170C|DMBT1_ENST00000368909.3_Missense_Mutation_p.R170C|DMBT1_ENST00000344338.3_Missense_Mutation_p.R170C|DMBT1_ENST00000330163.4_Missense_Mutation_p.R170C|DMBT1_ENST00000368956.2_Missense_Mutation_p.R170C|DMBT1_ENST00000368955.3_Missense_Mutation_p.R170C			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	170	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGATGATGTGCGCTGCTCAGG	0.587																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000368909.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(508-510)Cgc>Tgc		deleted in malignant brain tumors 1							147	143	145					10																	124336139		2068	4243	6311	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124336139C>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.508C>T	10.37:g.124336139C>T	ENSP00000342210:p.Arg170Cys					DMBT1_ENST00000368955.3_Missense_Mutation_p.R170C|DMBT1_ENST00000344338.3_Missense_Mutation_p.R170C|DMBT1_ENST00000359586.6_Missense_Mutation_p.R170C|DMBT1_ENST00000330163.4_Missense_Mutation_p.R170C|DMBT1_ENST00000368956.2_Missense_Mutation_p.R170C|DMBT1_ENST00000338354.3_Missense_Mutation_p.R170C	p.R170C	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN			7	614	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	170			SRCR 1.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.508C>T		.	.	.	.	.	.	.	.	.	.	c	14.36	2.513656	0.44763	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	4.63	-5.58	0.02512	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.895030	0.03666	U	0.243313	T	0.70168	0.3193	M	0.92880	3.355	0.09310	N	1	B;D;P;D;D;D	0.89917	0.405;0.999;0.954;0.998;0.997;1.0	B;D;P;P;P;D	0.74023	0.04;0.931;0.592;0.627;0.804;0.982	T	0.71006	-0.4717	10	0.52906	T	0.07	.	12.8229	0.57704	0.3295:0.1672:0.5033:0.0	.	170;170;170;170;170;170	F8WEF7;Q9UGM3-4;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;DMBT1_HUMAN	C	170	ENSP00000342210:R170C;ENSP00000343175:R170C;ENSP00000327747:R170C;ENSP00000357905:R170C;ENSP00000357951:R170C;ENSP00000357952:R170C;ENSP00000352593:R170C	ENSP00000331522:R170C	R	+	1	0	DMBT1	124326129	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-6.709000	0.00056	-1.523000	0.01767	-0.176000	0.13171	CGC		0.587	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		5	217	0	0	0	1	0	5	217					T	124336139	C	T	124336139	3	4	271	1	0	0	0	0	1	0	0	0	4577	768	27	1	534	1	DMBT1	10	124336139	Missense_Mutation	SNP	C	TCGA-EM-A1CS-01A-11D-A13W-08		124336139	11198608	9	5854											
FRY	10129	broad.mit.edu	37	chr13	32698958	32698958	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtcccaacactggcaataTgcatattgtggcagacctgt	10	10	0	1			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr13:32698958T>C	ENST00000380250.3	+	7	1158	c.662T>C	c.(661-663)aTg>aCg	p.M221T		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	221						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACTGGCAATATGCATATTGTG	0.438																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(661-663)aTg>aCg		furry homolog (Drosophila)							142	137	139					13																	32698958		1934	4145	6079	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32698958T>C	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.662T>C	13.37:g.32698958T>C	ENSP00000369600:p.Met221Thr						p.M221T	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	7	1158	+		Lung SC(185;0.0271)	221					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.662T>C	CCDS41875.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.62|17.62	3.434827|3.434827	0.62955|0.62955	.|.	.|.	ENSG00000073910|ENSG00000073910	ENST00000267067|ENST00000380250	.|T	.|0.23147	.|1.92	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.24198|0.24198	0.0586|0.0586	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|B	.|0.30634	.|0.288	.|B	.|0.25140	.|0.058	T|T	0.03344|0.03344	-1.1046|-1.1046	6|10	0.87932|0.22706	D|T	0|0.39	.|.	15.5243|15.5243	0.75890|0.75890	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|221	.|Q5TBA9	.|FRY_HUMAN	R|T	148|221	.|ENSP00000369600:M221T	ENSP00000267067:C148R|ENSP00000369600:M221T	C|M	+|+	1|2	0|0	FRY|FRY	31596958|31596958	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	8.040000|8.040000	0.89188|0.89188	2.081000|2.081000	0.62600|0.62600	0.459000|0.459000	0.35465|0.35465	TGC|ATG		0.438	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		5	201	0	0	0	1	0	5	201					C	32698958	T	C	32698958	3	2	271	1	0	0	0	0	1	0	0	0	6063	1464	51	3	688	3	FRY	13	32698958	Missense_Mutation	SNP	T	TCGA-EM-A1CS-01A-11D-A13W-08		32698958	82470920	10	5855											
ARHGEF7	8874	broad.mit.edu	37	chr13	111870032	111870032	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttccccttttaggacatgAccgataatagcaacaatcaa	5	11	2	1			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr13:111870032A>G	ENST00000375741.2	+	6	788	c.538A>G	c.(538-540)Acc>Gcc	p.T180A	ARHGEF7_ENST00000370623.3_Missense_Mutation_p.T87A|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.T130A|ARHGEF7_ENST00000544132.1_5'UTR|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.T159A|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.T2A|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.T2A|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.T77A|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.T2A|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.T2A	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	180					apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TTAGGACATGACCGATAATAG	0.378																																						ENST00000375741.2																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41						c.(538-540)Acc>Gcc		Rho guanine nucleotide exchange factor (GEF) 7							109	104	105					13																	111870032		2203	4300	6503	SO:0001583	missense	8874				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:111870032A>G	D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	15607	protein-coding gene	gene with protein product	"SH3 domain-containing proline-rich protein", "PAK-interacting exchange factor beta", "rho", "guanine nucleotide exchange factor 7"	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.538A>G	13.37:g.111870032A>G	ENSP00000364893:p.Thr180Ala					ARHGEF7_ENST00000317133.5_Missense_Mutation_p.T159A|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.T2A|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.T2A|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.T87A|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.T130A|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.T2A|ARHGEF7_ENST00000544132.1_5'UTR|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.T77A|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.T2A	p.T180A	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		6	788	+	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		180					B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000375741.2	37	c.538A>G	CCDS45068.1	.	.	.	.	.	.	.	.	.	.	A	17.39	3.377007	0.61735	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000449979;ENST00000370623;ENST00000545635;ENST00000491775;ENST00000466143;ENST00000218789;ENST00000375736;ENST00000467053;ENST00000426073;ENST00000426768;ENST00000375737;ENST00000375723	T;T;T;T;D;T;T;T;T;T;T;T;T	0.94828	0.65;0.65;0.65;0.9;-3.53;0.7;0.68;0.71;0.7;0.71;0.89;0.67;0.65	4.82	4.82	0.62117	.	0.054190	0.64402	D	0.000001	D	0.90246	0.6950	L	0.27053	0.805	0.80722	D	1	B;B;B;B	0.25521	0.021;0.121;0.025;0.128	B;B;B;B	0.25759	0.014;0.063;0.034;0.06	D	0.88542	0.3110	10	0.66056	D	0.02	.	14.697	0.69129	1.0:0.0:0.0:0.0	.	77;130;180;159	B7Z6G2;Q14155-2;Q14155;Q14155-3	.;.;ARHG7_HUMAN;.	A	159;180;130;2;87;157;2;2;2;2;2;2;77;77;2	ENSP00000325994:T159A;ENSP00000364893:T180A;ENSP00000364891:T130A;ENSP00000406732:T2A;ENSP00000359657:T87A;ENSP00000418067:T2A;ENSP00000218789:T2A;ENSP00000364888:T2A;ENSP00000420592:T2A;ENSP00000397068:T2A;ENSP00000389890:T77A;ENSP00000364889:T77A;ENSP00000364875:T2A	ENSP00000218789:T2A	T	+	1	0	ARHGEF7	110668033	1.000000	0.71417	0.987000	0.45799	0.915000	0.54546	5.480000	0.66820	1.918000	0.55548	0.533000	0.62120	ACC		0.378	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511		3	63	0	0	0	1	0	3	63					G	111870032	A	G	111870032	3	3	271	1	0	0	0	0	1	0	0	0	911	275	10	3	560	3	ARHGEF7	13	111870032	Missense_Mutation	SNP	A	TCGA-EM-A1CS-01A-11D-A13W-08	79171074	111870032	3299846	11	5856											
MYH7B	57644	broad.mit.edu	37	chr20	33578552	33578552	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactgccaggagaacctcaaCaagctgatgaccaacctgcg	9	14	1	3			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr20:33578552C>A	ENST00000262873.7	+	21	2207	c.2115C>A	c.(2113-2115)aaC>aaA	p.N705K	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	663	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)			AGAACCTCAACAAGCTGATGA	0.607																																						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.(2113-2115)aaC>aaA		myosin, heavy chain 7B, cardiac muscle, beta							58	66	63					20																	33578552		2098	4219	6317	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33578552C>A	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.2115C>A	20.37:g.33578552C>A	ENSP00000262873:p.Asn705Lys						p.N705K	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		21	2207	+			663			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.2115C>A	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877210	0.51801	.	.	ENSG00000078814	ENST00000262873	D	0.87103	-2.21	3.8	3.8	0.43715	Myosin head, motor domain (2);	0.000000	0.41396	D	0.000883	D	0.86096	0.5851	M	0.80332	2.49	0.47441	D	0.999425	B	0.29341	0.242	B	0.27796	0.083	D	0.86794	0.1987	10	0.87932	D	0	.	10.624	0.45497	0.0:0.9094:0.0:0.0906	.	663	A7E2Y1	MYH7B_HUMAN	K	705	ENSP00000262873:N705K	ENSP00000262873:N705K	N	+	3	2	MYH7B	33042213	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.573000	0.36472	2.422000	0.82143	0.561000	0.74099	AAC		0.607	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		4	68	1	0	0.150653	1	0.162242	4	68					A	33578552	C	A	33578552	3	1	271	1	0	0	0	0	1	0	0	0	10040	477	17	4	2197	4	MYH7B	20	33578552	Missense_Mutation	SNP	C	TCGA-EM-A1CS-01A-11D-A13W-08		33578552	29446968	12	5857											
LBP	3929	broad.mit.edu	37	chr20	37002620	37002620	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccttcctctgctgaagcGtgttcagctctacgaccttg	8	16	3	1	rs544709874		TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr20:37002620G>A	ENST00000217407.2	+	14	1525	c.1364G>A	c.(1363-1365)cGt>cAt	p.R455H		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	455					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CTGCTGAAGCGTGTTCAGCTC	0.488													G|||	1	0.000199681	0	0	5008	,	,		20557	0.001		0	False		,,,				2504	0					ENST00000217407.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28						c.(1363-1365)cGt>cAt		lipopolysaccharide binding protein							93	85	88					20																	37002620		2203	4300	6503	SO:0001583	missense	3929				acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	g.chr20:37002620G>A		CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"BPI fold containing"	6517	protein-coding gene	gene with protein product	"BPI fold containing family D, member 2"	151990	"lipopolysaccharide-binding protein"			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.1364G>A	20.37:g.37002620G>A	ENSP00000217407:p.Arg455His						p.R455H	NM_004139.3	NP_004130.2	P18428	LBP_HUMAN			14	1525	+		Myeloproliferative disorder(115;0.00878)	455					B2R938|O43438|Q92672|Q9H403|Q9UD66	Missense_Mutation	SNP	ENST00000217407.2	37	c.1364G>A	CCDS13304.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.599005	0.00125	.	.	ENSG00000129988	ENST00000217407;ENST00000538599	T	0.06528	3.29	5.01	-10.0	0.00425	Lipid-binding serum glycoprotein, C-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	1.482540	0.03811	N	0.265874	T	0.03827	0.0108	N	0.03000	-0.44	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.52895	-0.8514	10	0.25751	T	0.34	5.3301	22.978	0.99978	0.222:0.0:0.778:0.0	.	455	P18428	LBP_HUMAN	H	455	ENSP00000217407:R455H	ENSP00000217407:R455H	R	+	2	0	LBP	36436034	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.634000	0.00869	-3.973000	0.00085	-1.084000	0.02203	CGT		0.488	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139		28	79	0	0	0	1	0	28	79					A	37002620	G	A	37002620	3	1	271	1	0	0	0	0	1	0	0	0	8651	1145	40	1	1418	1	LBP	20	37002620	Missense_Mutation	SNP	G	TCGA-EM-A1CS-01A-11D-A13W-08	3424068	37002620	26022900	13	5858											
GGT1	2678	broad.mit.edu	37	chr22	25023483	25023483	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccactcacccgatctcctacTacaagcccgagttctacacg	5	18	3	0			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr22:25023483T>G	ENST00000400382.1	+	12	1860	c.1105T>G	c.(1105-1107)Tac>Gac	p.Y369D	GGT1_ENST00000401885.1_Missense_Mutation_p.Y25D|GGT1_ENST00000406383.2_Missense_Mutation_p.Y369D|GGT1_ENST00000404920.1_Missense_Mutation_p.Y25D|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000400380.1_Missense_Mutation_p.Y369D|GGT1_ENST00000400383.1_Missense_Mutation_p.Y369D|GGT1_ENST00000248923.4_Missense_Mutation_p.Y369D|GGT1_ENST00000404223.1_Missense_Mutation_p.Y25D|GGT1_ENST00000404532.1_Missense_Mutation_p.Y25D|GGT1_ENST00000403838.1_Missense_Mutation_p.Y25D			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	369					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	GATCTCCTACTACAAGCCCGA	0.627																																						ENST00000400382.1																			0				breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40						c.(1105-1107)Tac>Gac		gamma-glutamyltransferase 1	Glutathione(DB00143)						31	31	31					22																	25023483		2198	4294	6492	SO:0001583	missense	2678				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding	g.chr22:25023483T>G	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"CD molecules", "Gamma-glutamyltransferases"	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.1105T>G	22.37:g.25023483T>G	ENSP00000383232:p.Tyr369Asp					GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000404532.1_Missense_Mutation_p.Y25D|GGT1_ENST00000400380.1_Missense_Mutation_p.Y369D|GGT1_ENST00000400383.1_Missense_Mutation_p.Y369D|GGT1_ENST00000248923.4_Missense_Mutation_p.Y369D|GGT1_ENST00000406383.2_Missense_Mutation_p.Y369D|GGT1_ENST00000404920.1_Missense_Mutation_p.Y25D|GGT1_ENST00000401885.1_Missense_Mutation_p.Y25D|GGT1_ENST00000403838.1_Missense_Mutation_p.Y25D|GGT1_ENST00000404223.1_Missense_Mutation_p.Y25D	p.Y369D			P19440	GGT1_HUMAN			12	1860	+			369					Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	ENST00000400382.1	37	c.1105T>G	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	.	12.44	1.938502	0.34189	.	.	ENSG00000100031	ENST00000248923;ENST00000412658;ENST00000400382;ENST00000400383;ENST00000400380;ENST00000406383;ENST00000401885;ENST00000404532;ENST00000403838;ENST00000404223;ENST00000404920	T;T;T;T;T;T;T;T;T;T;T	0.07444	3.19;3.19;3.19;3.19;3.19;3.19;3.19;3.19;3.19;3.19;3.19	3.54	2.46	0.29980	.	0.000000	0.85682	D	0.000000	T	0.34629	0.0904	H	0.94734	3.575	0.45108	D	0.998125	D	0.89917	1.0	D	0.87578	0.998	T	0.18429	-1.0337	10	0.66056	D	0.02	-44.3186	8.4691	0.32975	0.1745:0.0:0.0:0.8255	.	369	P19440	GGT1_HUMAN	D	369;369;369;369;369;369;25;25;25;25;25	ENSP00000248923:Y369D;ENSP00000393537:Y369D;ENSP00000383232:Y369D;ENSP00000383233:Y369D;ENSP00000383231:Y369D;ENSP00000385975:Y369D;ENSP00000384381:Y25D;ENSP00000385445:Y25D;ENSP00000384820:Y25D;ENSP00000385016:Y25D;ENSP00000385001:Y25D	ENSP00000248923:Y369D	Y	+	1	0	GGT1	23353483	1.000000	0.71417	0.390000	0.26220	0.034000	0.12701	7.426000	0.80270	0.515000	0.28320	0.248000	0.18094	TAC		0.627	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	NM_013430		3	35	0	0	0	1	0	3	35					G	25023483	T	G	25023483	3	3	271	1	0	0	0	0	1	0	0	0	6361	1522	53	5	1135	5	GGT1	22	25023483	Missense_Mutation	SNP	T	TCGA-EM-A1CS-01A-11D-A13W-08		25023483	26281083	14	5859											
YY2	404281	broad.mit.edu	37	chrX	21875408	21875408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagatgttccgggattacgCcgccatgagaaaacatctcc	9	11	1	2			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chrX:21875408C>T	ENST00000429584.2	+	1	1304	c.806C>T	c.(805-807)gCc>gTc	p.A269V	MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000465888.1_3'UTR	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	269	Mediates transcriptional repression.				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(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						CGGGATTACGCCGCCATGAGA	0.498																																						ENST00000429584.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						c.(805-807)gCc>gTc		YY2 transcription factor							122	123	122					X																	21875408		2203	4300	6503	SO:0001583	missense	404281				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding	g.chrX:21875408C>T	AK091850	CCDS14202.1	Xp22.2-p22.1	2011-02-11			ENSG00000230797	ENSG00000230797		"Zinc fingers, C2H2-type"	31684	protein-coding gene	gene with protein product	"transcription factor yin yang 2"	300570				14702039	Standard	NM_206923		Approved	ZNF631	uc011mjp.2	O15391	OTTHUMG00000021236	ENST00000429584.2:c.806C>T	X.37:g.21875408C>T	ENSP00000389381:p.Ala269Val					MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Intron	p.A269V	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN			1	1304	+			269			Mediates transcriptional repression.		B2RP10|Q6Q1S4	Missense_Mutation	SNP	ENST00000429584.2	37	c.806C>T	CCDS14202.1	.	.	.	.	.	.	.	.	.	.	C	9.218	1.032576	0.19590	.	.	ENSG00000230797	ENST00000429584	T	0.10382	2.88	4.52	1.65	0.23941	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.061473	0.64402	U	0.000002	T	0.08980	0.0222	L	0.29908	0.895	0.09310	N	1	B	0.27316	0.175	B	0.24701	0.055	T	0.21999	-1.0229	10	0.87932	D	0	.	13.0524	0.58962	0.0:0.5116:0.4884:0.0	.	269	O15391	TYY2_HUMAN	V	269	ENSP00000389381:A269V	ENSP00000389381:A269V	A	+	2	0	YY2	21785329	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	2.107000	0.41844	0.104000	0.17725	-0.202000	0.12741	GCC		0.498	YY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056025.1	NM_206923		5	310	0	0	0	1	0	5	310					T	21875408	C	T	21875408	3	4	271	1	0	0	0	0	1	0	0	0	17506	739	26	2	808	2	YY2	23	21875408	Missense_Mutation	SNP	C	TCGA-EM-A1CS-01A-11D-A13W-08		21875408	133395152	15	5860											
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-													ctggttgggtttgcacttcaTcctcgaggcagcctcctcga					rs78182391		TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			8	17						8	17	---	---	---	---	-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	271	1	0	1	0	1	0	0	0	0	10727	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-EM-A1CS-01A-11D-A13W-08	29363888	51239296	104031264	16	5861											
ZXDB	158586	broad.mit.edu	37	chrX	57619097	57619097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctcctgcccagcagcccGggtgtctgatcgccccgcaa	11	19	1	1			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chrX:57619097G>A	ENST00000374888.1	+	1	829	c.616G>A	c.(616-618)Ggg>Agg	p.G206R		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	206					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.G206R(2)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CCAGCAGCCCGGGTGTCTGAT	0.711																																						ENST00000374888.1																			2	Substitution - Missense(2)	p.G206R(2)	lung(1)|prostate(1)	NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						c.(616-618)Ggg>Agg		zinc finger, X-linked, duplicated B							12	14	13					X																	57619097		2186	4257	6443	SO:0001583	missense	158586				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chrX:57619097G>A	L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"Zinc fingers, C2H2-type"	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.616G>A	X.37:g.57619097G>A	ENSP00000364023:p.Gly206Arg						p.G206R	NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN			1	829	+			206					A8K151|Q9UBB3	Missense_Mutation	SNP	ENST00000374888.1	37	c.616G>A	CCDS35313.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.654782	0.00108	.	.	ENSG00000198455	ENST00000374888	T	0.11063	2.81	2.65	1.78	0.24846	.	0.160870	0.29602	N	0.011697	T	0.04452	0.0122	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41787	-0.9489	10	0.15952	T	0.53	.	4.3042	0.10938	0.3435:0.0:0.6565:0.0	.	206	P98169	ZXDB_HUMAN	R	206	ENSP00000364023:G206R	ENSP00000364023:G206R	G	+	1	0	ZXDB	57635822	0.000000	0.05858	0.002000	0.10522	0.045000	0.14185	-0.287000	0.08388	0.520000	0.28426	0.556000	0.70494	GGG		0.711	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	NM_007157		4	35	0	0	0	1	0	4	35					A	57619097	G	A	57619097	3	1	271	1	0	0	0	0	1	0	0	0	18248	1116	39	1	618	1	ZXDB	23	57619097	Missense_Mutation	SNP	G	TCGA-EM-A1CS-01A-11D-A13W-08	6379801	57619097	97651463	17	5862											
ARMCX3	51566	broad.mit.edu	37	chrX	100880307	100880307	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaaacgggcttcccccaattCagatgataccgttttgtccc	8	13	1	2			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chrX:100880307C>A	ENST00000341189.4	+	5	1204	c.338C>A	c.(337-339)tCa>tAa	p.S113*	ARMCX3_ENST00000537169.1_Nonsense_Mutation_p.S113*|ARMCX3_ENST00000471229.2_Nonsense_Mutation_p.S113*|RP4-545K15.5_ENST00000564612.1_RNA|ARMCX3-AS1_ENST00000454228.1_RNA	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	113					cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						TCCCCCAATTCAGATGATACC	0.527																																						ENST00000341189.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(337-339)tCa>tAa		armadillo repeat containing, X-linked 3							60	55	56					X																	100880307		2202	4299	6501	SO:0001587	stop_gained	51566					integral to membrane	binding	g.chrX:100880307C>A	AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"Armadillo repeat containing"	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.338C>A	X.37:g.100880307C>A	ENSP00000340672:p.Ser113*					ARMCX3_ENST00000537169.1_Nonsense_Mutation_p.S113*|ARMCX3_ENST00000471229.2_Nonsense_Mutation_p.S113*	p.S113*	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN			5	1204	+			113					Q53HC6|Q7LCF5|Q9NPE4	Nonsense_Mutation	SNP	ENST00000341189.4	37	c.338C>A	CCDS14489.1	.	.	.	.	.	.	.	.	.	.	C	38	7.008815	0.97998	.	.	ENSG00000102401	ENST00000341189;ENST00000537169	.	.	.	4.08	4.08	0.47627	.	0.333185	0.23211	N	0.050664	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.8572	10.7694	0.46314	0.0:1.0:0.0:0.0	.	.	.	.	X	113	.	.	S	+	2	0	ARMCX3	100766963	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.018000	0.49625	2.305000	0.77605	0.523000	0.50628	TCA		0.527	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057568.2	NM_016607		13	108	1	0	5.50884e-06	1	6.42698e-06	13	108					A	100880307	C	A	100880307	4	1	271	1	0	0	0	0	0	1	0	0	961	838	29	4	340	4	ARMCX3	23	100880307	Nonsense_Mutation	SNP	C	TCGA-EM-A1CS-01A-11D-A13W-08	43261210	100880307	54390253	18	5863											
RERE	473	broad.mit.edu	37	chr1	8526058	8526058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcgctgcagggctttgCcagcatcgtaaccgctttca	11	14	1	0			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr1:8526058C>T	ENST00000337907.3	-	12	1764	c.1130G>A	c.(1129-1131)gGc>gAc	p.G377D	RERE_ENST00000400907.2_Missense_Mutation_p.G377D|RERE_ENST00000377464.1_Missense_Mutation_p.G109D|RERE_ENST00000400908.2_Missense_Mutation_p.G377D	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	377	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CAGGGCTTTGCCAGCATCGTA	0.507																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1129-1131)gGc>gAc		arginine-glutamic acid dipeptide (RE) repeats							89	74	79					1																	8526058		2203	4300	6503	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8526058C>T	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.1130G>A	1.37:g.8526058C>T	ENSP00000338629:p.Gly377Asp					RERE_ENST00000400907.2_Missense_Mutation_p.G377D|RERE_ENST00000400908.2_Missense_Mutation_p.G377D|RERE_ENST00000377464.1_Missense_Mutation_p.G109D	p.G377D	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	12	1764	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	377			ELM2.		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.1130G>A	CCDS95.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212001	0.79240	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000400907;ENST00000400908	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.98	5.98	0.97165	ELM2 domain (1);Homeodomain-like (1);	.	.	.	.	T	0.60418	0.2267	L	0.48877	1.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.53940	-0.8367	9	0.42905	T	0.14	-25.5195	19.4443	0.94840	0.0:1.0:0.0:0.0	.	109;377	B1AKN3;Q9P2R6	.;RERE_HUMAN	D	377;109;377;377	ENSP00000338629:G377D;ENSP00000366684:G109D;ENSP00000383699:G377D;ENSP00000383700:G377D	ENSP00000338629:G377D	G	-	2	0	RERE	8448645	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.484000	0.81180	2.847000	0.97988	0.591000	0.81541	GGC		0.507	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			3	45	0	0	0	0.115264	0	3	45					T	8526058	C	T	8526058	3	4	272	1	0	0	0	0	1	0	0	0	13231	739	26	2	3622	2	RERE	1	8526058	Missense_Mutation	SNP	C	TCGA-EM-A1CT-01A-11D-A13W-08		8526058	240724563	1	5864											
DBT	1629	broad.mit.edu	37	chr1	100681607	100681607	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atactagtataggaacagtcAtgtcttttggctttggtgga	11	5	2	0			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr1:100681607A>G	ENST00000370132.4	-	6	717	c.704T>C	c.(703-705)aTg>aCg	p.M235T	DBT_ENST00000370131.3_Missense_Mutation_p.M235T	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	235					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity (GO:0043754)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		AGGAACAGTCATGTCTTTTGG	0.373																																						ENST00000370132.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19						c.(703-705)aTg>aCg		dihydrolipoamide branched chain transacylase E2							267	263	264					1																	100681607		2203	4300	6503	SO:0001583	missense	1629				branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding	g.chr1:100681607A>G	BC016675	CCDS767.1	1p31	2008-02-05	2004-11-15		ENSG00000137992	ENSG00000137992			2698	protein-coding gene	gene with protein product		248610	"dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)"			1420314, 1429740	Standard	NM_001918		Approved		uc001dta.3	P11182	OTTHUMG00000010921	ENST00000370132.4:c.704T>C	1.37:g.100681607A>G	ENSP00000359151:p.Met235Thr					DBT_ENST00000370131.3_Missense_Mutation_p.M235T	p.M235T	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)	6	717	-		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	235					B2R811|Q5VVL8	Missense_Mutation	SNP	ENST00000370132.4	37	c.704T>C	CCDS767.1	.	.	.	.	.	.	.	.	.	.	a	8.818	0.936917	0.18206	.	.	ENSG00000137992	ENST00000543138;ENST00000370132;ENST00000370131	T;T	0.27720	1.65;1.65	5.66	-2.48	0.06423	.	0.896444	0.09845	N	0.748330	T	0.03651	0.0104	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45716	-0.9242	10	0.13853	T	0.58	-3.6242	7.8301	0.29338	0.1473:0.1469:0.0:0.7059	.	54;235	F5H1F9;P11182	.;ODB2_HUMAN	T	54;235;235	ENSP00000359151:M235T;ENSP00000359150:M235T	ENSP00000359150:M235T	M	-	2	0	DBT	100454195	0.000000	0.05858	0.034000	0.17996	0.551000	0.35334	-0.006000	0.12833	-0.246000	0.09611	0.524000	0.50904	ATG		0.373	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030101.2	NM_001918		114	175	0	0	0	0.870114	0	114	175					G	100681607	A	G	100681607	3	3	272	1	0	0	0	0	1	0	0	0	4258	217	8	3	768	3	DBT	1	100681607	Missense_Mutation	SNP	A	TCGA-EM-A1CT-01A-11D-A13W-08	92155549	100681607	148569014	2	5865											
DENND4B	9909	broad.mit.edu	37	chr1	153906083	153906083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgggaggcaggggagtggCgggaaggagtgagcagctgt	23	5	0	1			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr1:153906083C>T	ENST00000361217.4	-	20	3624	c.3206G>A	c.(3205-3207)cGc>cAc	p.R1069H	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1069					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)			AGGGGAGTGGCGGGAAGGAGT	0.711																																						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.(3205-3207)cGc>cAc		DENN/MADD domain containing 4B							7	10	9					1																	153906083		1918	4044	5962	SO:0001583	missense	9909							g.chr1:153906083C>T	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.3206G>A	1.37:g.153906083C>T	ENSP00000354597:p.Arg1069His						p.R1069H	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		20	3624	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		1069					Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	c.3206G>A	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.904816	0.52333	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.09255	3.1;3.0	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.03739	0.0106	L	0.29908	0.895	0.50632	D	0.999889	B	0.15473	0.013	B	0.08055	0.003	T	0.29761	-1.0001	10	0.34782	T	0.22	-21.3494	11.6622	0.51354	0.0:0.9152:0.0:0.0848	.	1069	O75064	DEN4B_HUMAN	H	1069;1080	ENSP00000354597:R1069H;ENSP00000357635:R1080H	ENSP00000354597:R1069H	R	-	2	0	DENND4B	152172707	1.000000	0.71417	1.000000	0.80357	0.267000	0.26476	1.912000	0.39946	2.690000	0.91761	0.462000	0.41574	CGC		0.711	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		6	11	0	0	0	0.248553	0	6	11					T	153906083	C	T	153906083	3	4	272	1	0	0	0	0	1	0	0	0	4434	768	27	1	1320	1	DENND4B	1	153906083	Missense_Mutation	SNP	C	TCGA-EM-A1CT-01A-11D-A13W-08	53224476	153906083	95344538	3	5866											
HMCN1	83872	broad.mit.edu	37	chr1	185969305	185969305	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ttacaccctatgacaatgggGagtacatctgtgtggcagtc	11	9	1	1			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr1:185969305G>C	ENST00000271588.4	+	26	4232	c.4003G>C	c.(4003-4005)Gag>Cag	p.E1335Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.E1335Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1335	Ig-like C2-type 10.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGACAATGGGGAGTACATCTG	0.418																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(4003-4005)Gag>Cag		hemicentin 1							136	122	127					1																	185969305		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185969305G>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.4003G>C	1.37:g.185969305G>C	ENSP00000271588:p.Glu1335Gln					HMCN1_ENST00000367492.2_Missense_Mutation_p.E1335Q	p.E1335Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			26	4232	+			1335			Ig-like C2-type 10.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.4003G>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.851419	0.71719	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.67523	-0.27;-0.27	5.25	4.33	0.51752	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.147231	0.64402	N	0.000013	T	0.60248	0.2254	N	0.21194	0.64	0.52501	D	0.999957	D	0.57571	0.98	P	0.51895	0.683	T	0.55541	-0.8125	10	0.19590	T	0.45	.	13.7888	0.63126	0.0741:0.0:0.9259:0.0	.	1335	Q96RW7	HMCN1_HUMAN	Q	1335	ENSP00000271588:E1335Q;ENSP00000356462:E1335Q	ENSP00000271588:E1335Q	E	+	1	0	HMCN1	184235928	1.000000	0.71417	0.998000	0.56505	0.784000	0.44337	9.188000	0.94921	1.205000	0.43262	0.558000	0.71614	GAG		0.418	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		67	68	0	0	0	0.870114	0	67	68					C	185969305	G	C	185969305	3	2	272	1	0	0	0	0	1	0	0	0	7220	1175	41	4	4105	4	HMCN1	1	185969305	Missense_Mutation	SNP	G	TCGA-EM-A1CT-01A-11D-A13W-08	32063222	185969305	63281316	4	5867											
C1orf115	79762	broad.mit.edu	37	chr1	220869983	220869983	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtcatcatcaaaggatgCcgctacgtggtcatcggcct	11	11	4	0			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr1:220869983C>T	ENST00000294889.5	+	2	897	c.339C>T	c.(337-339)tgC>tgT	p.C113C		NM_024709.4	NP_078985.3	Q9H7X2	CA115_HUMAN	chromosome 1 open reading frame 115	113						integral component of membrane (GO:0016021)				large_intestine(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0273)		TCAAAGGATGCCGCTACGTGG	0.512																																						ENST00000294889.5																			0				large_intestine(1)|lung(1)	2						c.(337-339)tgC>tgT		chromosome 1 open reading frame 115							110	110	110					1																	220869983		2203	4300	6503	SO:0001819	synonymous_variant	79762					integral to membrane		g.chr1:220869983C>T	AK024208	CCDS1524.1	1q41	2008-02-05			ENSG00000162817	ENSG00000162817			25873	protein-coding gene	gene with protein product						12477932	Standard	NM_024709		Approved	FLJ14146	uc001hmp.1	Q9H7X2	OTTHUMG00000037361	ENST00000294889.5:c.339C>T	1.37:g.220869983C>T							p.C113C	NM_024709.4	NP_078985.3	Q9H7X2	CA115_HUMAN		GBM - Glioblastoma multiforme(131;0.0273)	2	897	+			113					B3KRN3|D3DTB2	Silent	SNP	ENST00000294889.5	37	c.339C>T	CCDS1524.1																																																																																				0.512	C1orf115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090922.3	NM_024709		5	156	0	0	0	0.184627	0	5	156					T	220869983	C	T	220869983	2	4	272	1	0	0	0	0	0	0	0	1	1988	747	26	2		2	C1orf115	1	220869983	Silent	SNP	C	TCGA-EM-A1CT-01A-11D-A13W-08	34900678	220869983	28380638	5	5868											
C2orf78	388960	broad.mit.edu	37	chr2	74043556	74043556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcaagctcgacatgtttctCggcggccaaaccctctagcc	8	16	3	0			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr2:74043556C>T	ENST00000409561.1	+	3	2327	c.2206C>T	c.(2206-2208)Cgg>Tgg	p.R736W		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	736										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						ACATGTTTCTCGGCGGCCAAA	0.537																																						ENST00000409561.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						c.(2206-2208)Cgg>Tgg		chromosome 2 open reading frame 78							199	203	202					2																	74043556		2080	4203	6283	SO:0001583	missense	388960							g.chr2:74043556C>T	AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.2206C>T	2.37:g.74043556C>T	ENSP00000387124:p.Arg736Trp						p.R736W	NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN			3	2327	+			736						Missense_Mutation	SNP	ENST00000409561.1	37	c.2206C>T	CCDS46338.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177736	0.57692	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	T	0.56776	0.44	5.23	4.36	0.52297	.	0.000000	0.46145	D	0.000316	T	0.70193	0.3196	M	0.79475	2.455	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62941	-0.6747	10	0.87932	D	0	-12.3262	10.1035	0.42519	0.0:0.9067:0.0:0.0933	.	736	A6NCI8	CB078_HUMAN	W	736;706	ENSP00000387124:R736W	ENSP00000340692:R706W	R	+	1	2	C2orf78	73897064	0.593000	0.26840	0.023000	0.16930	0.004000	0.04260	0.496000	0.22499	1.360000	0.45960	-0.253000	0.11424	CGG		0.537	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		8	195	0	0	0	0.307466	0	8	195					T	74043556	C	T	74043556	3	4	272	1	0	0	0	0	1	0	0	0	2195	875	31	1	2216	1	C2orf78	2	74043556	Missense_Mutation	SNP	C	TCGA-EM-A1CT-01A-11D-A13W-08		74043556	169155817	6	5869											
DNASE1L3	1776	broad.mit.edu	37	chr3	58196616	58196616	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggaggagaagcagcagtggGgccagctcccgtgacatcct	15	11	0	2			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr3:58196616G>C	ENST00000394549.2	-	1	334	c.18C>G	c.(16-18)gcC>gcG	p.A6A	DNASE1L3_ENST00000318316.3_Silent_p.A6A|DNASE1L3_ENST00000486455.1_Silent_p.A6A|DNASE1L3_ENST00000483681.1_Silent_p.A6A	NM_004944.3	NP_004935.1	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	6					apoptotic DNA fragmentation (GO:0006309)|developmental programmed cell death (GO:0010623)|DNA metabolic process (GO:0006259)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		GCAGCAGTGGGGCCAGCTCCC	0.587																																					Esophageal Squamous(96;1069 1424 4841 43466 52325)	ENST00000483681.1																			0				breast(2)|large_intestine(4)|lung(6)	12						c.(16-18)gcC>gcG		deoxyribonuclease I-like 3							100	91	94					3																	58196616		2203	4300	6503	SO:0001819	synonymous_variant	1776				apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters	g.chr3:58196616G>C	AF047354	CCDS2886.1, CCDS58836.1	3p14.3	2008-05-15			ENSG00000163687	ENSG00000163687			2959	protein-coding gene	gene with protein product	"DNase gamma"	602244				9205125, 9714828, 14646506	Standard	NM_004944		Approved	DNAS1L3, LSD	uc003djo.2	Q13609	OTTHUMG00000159153	ENST00000394549.2:c.18C>G	3.37:g.58196616G>C						DNASE1L3_ENST00000318316.3_Silent_p.A6A|DNASE1L3_ENST00000486455.1_Silent_p.A6A|DNASE1L3_ENST00000394549.2_Silent_p.A6A	p.A6A			Q13609	DNSL3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)	3	599	-			6					B2R8B1|B7Z707|O75803	Silent	SNP	ENST00000394549.2	37	c.18C>G	CCDS2886.1																																																																																				0.587	DNASE1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353533.1	NM_004944		36	57	0	0	0	0.779181	0	36	57					C	58196616	G	C	58196616	2	2	272	1	0	0	0	0	0	0	0	1	4663	1219	43	4		4	DNASE1L3	3	58196616	Silent	SNP	G	TCGA-EM-A1CT-01A-11D-A13W-08		58196616	139825814	7	5870											
CCDC39	339829	broad.mit.edu	37	chr3	180334307	180334307	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaggtgctgtattacctgTtgaaagtatgtttgaaggat	12	3	0	3			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr3:180334307T>C	ENST00000442201.2	-	18	2702	c.2583A>G	c.(2581-2583)caA>caG	p.Q861Q	CCDC39_ENST00000273654.4_3'UTR|TTC14_ENST00000382584.4_Intron	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	861					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GTATTACCTGTTGAAAGTATG	0.264																																						ENST00000442201.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45						c.(2581-2583)caA>caG		coiled-coil domain containing 39							44	40	41					3																	180334307		1803	4064	5867	SO:0001819	synonymous_variant	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180334307T>C	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.2583A>G	3.37:g.180334307T>C						TTC14_ENST00000382584.4_Intron|CCDC39_ENST00000273654.4_3'UTR	p.Q861Q	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		18	2702	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		861					B4E2H1	Silent	SNP	ENST00000442201.2	37	c.2583A>G	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	T	8.383	0.837891	0.16891	.	.	ENSG00000145075	ENST00000473854	.	.	.	5.37	-0.35	0.12606	.	.	.	.	.	T	0.44993	0.1320	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24941	-1.0146	4	.	.	.	.	4.2205	0.10556	0.119:0.4781:0.1361:0.2669	.	.	.	.	S	45	.	.	N	-	2	0	CCDC39	181817001	0.956000	0.32656	0.946000	0.38457	0.981000	0.71138	0.011000	0.13264	-0.181000	0.10619	0.455000	0.32223	AAC		0.264	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		24	30	0	0	0	0.667858	0	24	30					C	180334307	T	C	180334307	2	2	272	1	0	0	0	0	0	0	0	1	2811	1722	60	3		3	CCDC39	3	180334307	Silent	SNP	T	TCGA-EM-A1CT-01A-11D-A13W-08	122137691	180334307	17688123	8	5871											
ADCY2	108	broad.mit.edu	37	chr5	7707861	7707861	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctggagcacttgaatggCgcttataaagtggaggaggg	15	7	0	1	rs112493968	byFrequency	TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr5:7707861C>T	ENST00000338316.4	+	9	1400	c.1311C>T	c.(1309-1311)ggC>ggT	p.G437G	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Silent_p.G257G	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	437					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)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|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)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACTTGAATGGCGCTTATAAAG	0.413													C|||	10	0.00199681	0.0068	0	5008	,	,		17267	0.001		0	False		,,,				2504	0					ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(1309-1311)ggC>ggT		adenylate cyclase 2 (brain)		C		17,4389	25.3+/-52.1	0,17,2186	126	126	126		1311	-11.3	0.5	5	dbSNP_132	126	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ADCY2	NM_020546.2		0,19,6484	TT,TC,CC		0.0233,0.3858,0.1461		437/1092	7707861	19,12987	2203	4300	6503	SO:0001819	synonymous_variant	108				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	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7707861C>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1311C>T	5.37:g.7707861C>T						ADCY2_ENST00000537121.1_Silent_p.G257G	p.G437G	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			9	1400	+			437					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.1311C>T	CCDS3872.2																																																																																				0.413	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		49	80	0	0	0	0.870114	0	49	80					T	7707861	C	T	7707861	2	4	272	1	0	0	0	0	0	0	0	1	294	755	27	1		1	ADCY2	5	7707861	Silent	SNP	C	TCGA-EM-A1CT-01A-11D-A13W-08		7707861	173207399	9	5872											
HIST1H2BD	3017	broad.mit.edu	37	chr6	26158671	26158671	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaagcgctcgaccatcaccTccagggagatccagacggcc	10	16	1	2			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr6:26158671T>C	ENST00000289316.2	+	1	298	c.274T>C	c.(274-276)Tcc>Ccc	p.S92P	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.S92P	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	92					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						GACCATCACCTCCAGGGAGAT	0.627																																						ENST00000289316.2																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						c.(274-276)Tcc>Ccc		histone cluster 1, H2bd							95	101	99					6																	26158671		2203	4298	6501	SO:0001583	missense	3017				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26158671T>C	M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"Histones / Replication-dependent"	4747	protein-coding gene	gene with protein product		602799	"H2B histone family, member B", "histone 1, H2bd"	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	ENST00000289316.2:c.274T>C	6.37:g.26158671T>C	ENSP00000289316:p.Ser92Pro					HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.S92P	p.S92P	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN			1	298	+			92						Missense_Mutation	SNP	ENST00000289316.2	37	c.274T>C	CCDS4587.1	.	.	.	.	.	.	.	.	.	.	.	18.96	3.734048	0.69189	.	.	ENSG00000158373	ENST00000377777;ENST00000289316	T;T	0.46063	0.88;0.88	5.19	5.19	0.71726	Histone-fold (2);Histone core (1);	0.000000	0.53938	D	0.000052	T	0.39759	0.1090	M	0.88241	2.94	0.44330	D	0.997213	B	0.21688	0.059	B	0.28709	0.093	T	0.52719	-0.8538	10	0.72032	D	0.01	.	11.4472	0.50131	0.1348:0.0:0.0:0.8652	.	92	P58876	H2B1D_HUMAN	P	92	ENSP00000367008:S92P;ENSP00000289316:S92P	ENSP00000289316:S92P	S	+	1	0	HIST1H2BD	26266650	0.999000	0.42202	0.346000	0.25655	0.983000	0.72400	4.233000	0.58651	2.275000	0.75901	0.529000	0.55759	TCC		0.627	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040088.1	NM_021063		62	86	0	0	0	0.870114	0	62	86					C	26158671	T	C	26158671	3	2	272	1	0	0	0	0	1	0	0	0	7143	1551	54	3	276	3	HIST1H2BD	6	26158671	Missense_Mutation	SNP	T	TCGA-EM-A1CT-01A-11D-A13W-08		26158671	144956396	10	5873											
GPNMB	10457	broad.mit.edu	37	chr7	23293036	23293036	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaatgaaaaactctacccaGtgtggaagcggggagacatg	14	7	1	2			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr7:23293036G>T	ENST00000381990.2	+	2	342	c.181G>T	c.(181-183)Gtg>Ttg	p.V61L	GPNMB_ENST00000258733.4_Missense_Mutation_p.V61L|GPNMB_ENST00000539136.1_Intron|GPNMB_ENST00000409458.3_Missense_Mutation_p.V61L|GPNMB_ENST00000453162.2_Missense_Mutation_p.V61L	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	61					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			ACTCTACCCAGTGTGGAAGCG	0.433																																						ENST00000258733.4																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41						c.(181-183)Gtg>Ttg		glycoprotein (transmembrane) nmb							103	104	103					7																	23293036		2203	4300	6503	SO:0001583	missense	10457				negative regulation of cell proliferation	melanosome		g.chr7:23293036G>T	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"transmembrane glycoprotein", "glycoprotein NMB", "glycoprotein nmb-like protein", "osteoactivin"	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.181G>T	7.37:g.23293036G>T	ENSP00000371420:p.Val61Leu					GPNMB_ENST00000409458.3_Missense_Mutation_p.V61L|GPNMB_ENST00000539136.1_Intron|GPNMB_ENST00000453162.2_Missense_Mutation_p.V61L|GPNMB_ENST00000381990.2_Missense_Mutation_p.V61L	p.V61L			Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		2	476	+			61					A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	ENST00000381990.2	37	c.181G>T	CCDS34610.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101360	0.56183	.	.	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000409458;ENST00000453162	T;T;T	0.14766	2.48;2.49;2.49	5.44	3.52	0.40303	.	0.172297	0.38837	N	0.001541	T	0.29882	0.0747	M	0.79805	2.47	0.22317	N	0.999202	P;P;D;P	0.67145	0.749;0.937;0.996;0.949	B;P;D;P	0.76071	0.441;0.506;0.987;0.712	T	0.15235	-1.0444	10	0.23891	T	0.37	-16.5726	3.7904	0.08718	0.0833:0.1178:0.4988:0.3001	.	61;61;61;61	F5GY20;Q14956;Q14956-2;Q96F58	.;GPNMB_HUMAN;.;.	L	61;96;61;61;61	ENSP00000258733:V61L;ENSP00000371420:V61L;ENSP00000405586:V61L	ENSP00000258733:V61L	V	+	1	0	GPNMB	23259561	0.993000	0.37304	1.000000	0.80357	0.969000	0.65631	1.554000	0.36266	1.280000	0.44463	0.650000	0.86243	GTG		0.433	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		4	80	1	0	0.0215528	0.217242	0.0245462	4	80					T	23293036	G	T	23293036	3	4	272	1	0	0	0	0	1	0	0	0	6620	1029	36	4	187	4	GPNMB	7	23293036	Missense_Mutation	SNP	G	TCGA-EM-A1CT-01A-11D-A13W-08		23293036	135845627	11	5874											
CNPY4	245812	broad.mit.edu	37	chr7	99722478	99722481	+	Frame_Shift_Del	DEL	AAGC	AAGC	-													gacaagatgaccaagacaggAagccaccccaaacttgaccg							TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr7:99722478_99722481delAAGC	ENST00000262932.3	+	6	846_849	c.714_717delAAGC	c.(712-717)ggaagcfs	p.GS238fs	MBLAC1_ENST00000398075.2_5'Flank|CNPY4_ENST00000480692.1_3'UTR|RP11-506M12.1_ENST00000494221.1_RNA	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	238						extracellular region (GO:0005576)				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCAAGACAGGAAGCCACCCCAAAC	0.554																																						ENST00000262932.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(712-717)ggfs		canopy FGF signaling regulator 4																																				SO:0001589	frameshift_variant	245812					extracellular region		g.chr7:99722478_99722481delAAGC	AK075537	CCDS34701.1	7q22.1	2013-07-23	2013-07-23		ENSG00000166997	ENSG00000166997			28631	protein-coding gene	gene with protein product	"protein associated with TLR4"	610047	"canopy 4 homolog (zebrafish)"			12975309	Standard	NM_152755		Approved	MGC40499, PRAT4B	uc003uto.3	Q8N129	OTTHUMG00000154817	ENST00000262932.3:c.714_717delAAGC	7.37:g.99722478_99722481delAAGC	ENSP00000262932:p.Gly238fs					RP11-506M12.1_ENST00000494221.1_RNA|CNPY4_ENST00000480692.1_3'UTR	p.GS238fs	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN			6	846_849	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		238					Q8WUN9	Frame_Shift_Del	DEL	ENST00000262932.3	37	c.714_717delAAGC	CCDS34701.1																																																																																				0.554	CNPY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337224.4	NM_152755		8	140						8	140	---	---	---	---	-	99722481	AAGC	-	99722478	7	5	272	1	0	1	0	1	0	0	0	0	3630	233	9	0	736	0	CNPY4	7	99722478	Frame_Shift_Del	DEL	AAGC	TCGA-EM-A1CT-01A-11D-A13W-08	76429442	99722478	59416185	12	5875											
PIK3CG	5294	broad.mit.edu	37	chr7	106509419	106509419	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacctgctgctgatagaccaCcgtttcctcctgcgccgtgg	10	15	0	2			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr7:106509419C>A	ENST00000359195.3	+	2	1723	c.1413C>A	c.(1411-1413)caC>caA	p.H471Q	PIK3CG_ENST00000440650.2_Missense_Mutation_p.H471Q|PIK3CG_ENST00000496166.1_Missense_Mutation_p.H471Q	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	471	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TGATAGACCACCGTTTCCTCC	0.532																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(1411-1413)caC>caA		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							111	106	108					7																	106509419		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106509419C>A		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1413C>A	7.37:g.106509419C>A	ENSP00000352121:p.His471Gln					PIK3CG_ENST00000496166.1_Missense_Mutation_p.H471Q|PIK3CG_ENST00000440650.2_Missense_Mutation_p.H471Q	p.H471Q	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			2	1723	+			471					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.1413C>A	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.312499	0.60414	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.77229	-1.08;-1.08;-1.08	6.02	5.13	0.70059	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	D	0.85182	0.5638	M	0.69823	2.125	0.80722	D	1	P	0.52316	0.952	P	0.58331	0.837	D	0.85891	0.1428	10	0.49607	T	0.09	-37.4831	15.5857	0.76479	0.0:0.9336:0.0:0.0664	.	471	P48736	PK3CG_HUMAN	Q	471	ENSP00000392258:H471Q;ENSP00000419260:H471Q;ENSP00000352121:H471Q	ENSP00000352121:H471Q	H	+	3	2	PIK3CG	106296655	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.648000	0.46647	1.537000	0.49254	0.655000	0.94253	CAC		0.532	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			46	75	1	0	1.62263e-30	0.870114	2.01599e-30	46	75					A	106509419	C	A	106509419	3	1	272	1	0	0	0	0	1	0	0	0	11916	506	18	4	1415	4	PIK3CG	7	106509419	Missense_Mutation	SNP	C	TCGA-EM-A1CT-01A-11D-A13W-08	6786941	106509419	52629244	13	5876											
DOCK4	9732	broad.mit.edu	37	chr7	111484884	111484884	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtcggctggtgatctccaAtatggtcctcagcagaatat	11	9	2	2			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr7:111484884A>G	ENST00000437633.1	-	25	2927	c.2671T>C	c.(2671-2673)Ttg>Ctg	p.L891L	DOCK4_ENST00000428084.1_Silent_p.L891L	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	891					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GTGATCTCCAATATGGTCCTC	0.463																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(2671-2673)Ttg>Ctg		dedicator of cytokinesis 4							149	148	148					7																	111484884		1977	4169	6146	SO:0001819	synonymous_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111484884A>G		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.2671T>C	7.37:g.111484884A>G						DOCK4_ENST00000437633.1_Silent_p.L891L	p.L891L			Q8N1I0	DOCK4_HUMAN			25	2943	-		Acute lymphoblastic leukemia(1;0.0441)	891					O14584|O94824|Q8NB45	Silent	SNP	ENST00000437633.1	37	c.2671T>C	CCDS47688.1																																																																																				0.463	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		9	174	0	0	0	0.307466	0	9	174					G	111484884	A	G	111484884	2	3	272	1	0	0	0	0	0	0	0	1	4689	98	4	3		3	DOCK4	7	111484884	Silent	SNP	A	TCGA-EM-A1CT-01A-11D-A13W-08	4975465	111484884	47653779	14	5877											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		36	66	0	0	0	0.779181	0	36	66					T	140453136	A	T	140453136	3	4	272	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A1CT-01A-11D-A13W-08	28968252	140453136	18685527	15	5878											
TEX15	56154	broad.mit.edu	37	chr8	30694875	30694875	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagatgctccaaaagtatgCacagtattgggattcaatgt	9	8	1	1			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr8:30694875C>T	ENST00000256246.2	-	3	7850	c.7776G>A	c.(7774-7776)gtG>gtA	p.V2592V		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2592					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CAAAAGTATGCACAGTATTGG	0.378																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(7774-7776)gtG>gtA		testis expressed 15							94	92	93					8																	30694875		2203	4300	6503	SO:0001819	synonymous_variant	56154							g.chr8:30694875C>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7776G>A	8.37:g.30694875C>T							p.V2592V	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	3	7850	-			2592						Silent	SNP	ENST00000256246.2	37	c.7776G>A	CCDS6080.1																																																																																				0.378	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			61	100	0	0	0	0.870114	0	61	100					T	30694875	C	T	30694875	2	4	272	1	0	0	0	0	0	0	0	1	15776	697	25	2		2	TEX15	8	30694875	Silent	SNP	C	TCGA-EM-A1CT-01A-11D-A13W-08		30694875	115669147	16	5879											
ZFAND1	79752	broad.mit.edu	37	chr8	82614952	82614952	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attccaagtaagattcaacaTttttacagaattgttcttca	4	7	3	2			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr8:82614952T>A	ENST00000220669.5	-	8	803	c.785A>T	c.(784-786)aAt>aTt	p.N262I	ZFAND1_ENST00000519338.1_5'UTR|ZFAND1_ENST00000521895.1_3'UTR|ZFAND1_ENST00000523096.1_Missense_Mutation_p.N255I|ZFAND1_ENST00000522520.1_Missense_Mutation_p.N155I|ZFAND1_ENST00000521287.1_Missense_Mutation_p.N155I	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	262							zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						AGATTCAACATTTTTACAGAA	0.294																																						ENST00000220669.5																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(784-786)aAt>aTt		zinc finger, AN1-type domain 1							56	60	59					8																	82614952		2201	4294	6495	SO:0001583	missense	79752						zinc ion binding	g.chr8:82614952T>A		CCDS6232.1, CCDS55250.1, CCDS55251.1	8q21.13	2006-07-07						"Zinc fingers, AN1-type domain containing"	25858	protein-coding gene	gene with protein product						12477932	Standard	NM_024699		Approved	FLJ14007	uc003ycj.2	Q8TCF1		ENST00000220669.5:c.785A>T	8.37:g.82614952T>A	ENSP00000220669:p.Asn262Ile					ZFAND1_ENST00000522520.1_Missense_Mutation_p.N155I|ZFAND1_ENST00000521895.1_3'UTR|ZFAND1_ENST00000521287.1_Missense_Mutation_p.N155I|ZFAND1_ENST00000523096.1_Missense_Mutation_p.N255I|ZFAND1_ENST00000519338.1_5'UTR	p.N262I	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN			8	803	-			262					E5RIG0|E5RJ99|Q658R7|Q6IA32|Q6PGQ6|Q9H810	Missense_Mutation	SNP	ENST00000220669.5	37	c.785A>T	CCDS6232.1	.	.	.	.	.	.	.	.	.	.	T	16.15	3.042653	0.55003	.	.	ENSG00000104231	ENST00000523096;ENST00000220669;ENST00000522520;ENST00000521287	.	.	.	5.62	5.62	0.85841	.	0.202886	0.49916	D	0.000128	T	0.54191	0.1843	L	0.36672	1.1	0.80722	D	1	P;P	0.44478	0.836;0.836	B;B	0.44224	0.444;0.444	T	0.60052	-0.7338	9	0.87932	D	0	.	15.8121	0.78573	0.0:0.0:0.0:1.0	.	255;262	E5RIG0;Q8TCF1	.;ZFAN1_HUMAN	I	255;262;155;155	.	ENSP00000220669:N262I	N	-	2	0	ZFAND1	82777507	1.000000	0.71417	0.965000	0.40720	0.195000	0.23768	6.826000	0.75298	2.146000	0.66826	0.397000	0.26171	AAT		0.294	ZFAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379739.1	NM_024699		48	73	0	0	0	0.864702	0	48	73					A	82614952	T	A	82614952	3	1	272	1	0	0	0	0	1	0	0	0	17623	1493	52	5	25	5	ZFAND1	8	82614952	Missense_Mutation	SNP	T	TCGA-EM-A1CT-01A-11D-A13W-08	51920077	82614952	63749070	17	5880											
EPPK1	83481	broad.mit.edu	37	chr8	144940654	144940654	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagcaccagggccgtgccGggccgcagcacgcccttcca	13	18	0	0			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr8:144940654G>A	ENST00000525985.1	-	2	6839	c.6768C>T	c.(6766-6768)ccC>ccT	p.P2256P				P58107	EPIPL_HUMAN	epiplakin 1	2256						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGCCGTGCCGGGCCGCAGCA	0.726																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6766-6768)ccC>ccT		epiplakin 1							47	45	46					8																	144940654		2171	4256	6427	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940654G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6768C>T	8.37:g.144940654G>A							p.P2256P			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	6839	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2256					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.6768C>T																																																																																					0.726	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		3	39	0	0	0	0.217242	0	3	39					A	144940654	G	A	144940654	2	1	272	1	0	0	0	0	0	0	0	1	5190	1103	39	1		1	EPPK1	8	144940654	Silent	SNP	G	TCGA-EM-A1CT-01A-11D-A13W-08	62325702	144940654	1423368	18	5881											
LYZL2	119180	broad.mit.edu	37	chr10	30915158	30915158	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggaccgtctgggctgtggtGttgtagccgctctcataata	13	9	2	0			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr10:30915158G>T	ENST00000375318.2	-	3	368	c.312C>A	c.(310-312)aaC>aaA	p.N104K		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	58					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				GGGCTGTGGTGTTGTAGCCGC	0.552																																						ENST00000375318.2																			0				NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19						c.(310-312)aaC>aaA		lysozyme-like 2							133	101	112					10																	30915158		2203	4300	6503	SO:0001583	missense	119180				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr10:30915158G>T	AF139543	CCDS7167.2	10p11.23	2009-12-04			ENSG00000151033	ENSG00000151033			29613	protein-coding gene	gene with protein product		612748					Standard	NM_183058		Approved		uc001ivk.3	Q7Z4W2	OTTHUMG00000017898	ENST00000375318.2:c.312C>A	10.37:g.30915158G>T	ENSP00000364467:p.Asn104Lys						p.N104K	NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN			3	368	-		Prostate(175;0.151)	58					Q6NZ69	Missense_Mutation	SNP	ENST00000375318.2	37	c.312C>A	CCDS7167.2	.	.	.	.	.	.	.	.	.	.	G	10.95	1.497025	0.26861	.	.	ENSG00000151033	ENST00000375318	T	0.79352	-1.26	2.27	1.35	0.21983	.	0.195936	0.43260	D	0.000587	D	0.83972	0.5370	M	0.77313	2.365	0.29048	N	0.884677	D	0.89917	1.0	D	0.85130	0.997	T	0.75485	-0.3301	10	0.66056	D	0.02	-2.2735	4.8961	0.13751	0.179:0.0:0.821:0.0	.	104	Q7Z4W2-2	.	K	104	ENSP00000364467:N104K	ENSP00000364467:N104K	N	-	3	2	LYZL2	30955164	1.000000	0.71417	0.517000	0.27799	0.397000	0.30659	1.421000	0.34815	0.518000	0.28383	0.306000	0.20318	AAC		0.552	LYZL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047434.1	NM_183058		4	28	1	0	1.23904e-05	0.184627	1.48685e-05	4	28					T	30915158	G	T	30915158	3	4	272	1	0	0	0	0	1	0	0	0	9132	1368	48	4	284	4	LYZL2	10	30915158	Missense_Mutation	SNP	G	TCGA-EM-A1CT-01A-11D-A13W-08		30915158	104619589	19	5882											
ATM	472	broad.mit.edu	37	chr11	108178672	108178672	+	Frame_Shift_Del	DEL	C	C	-													ggataaaaaatcacaaagaaCaatgcttgctgttgtggact							TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr11:108178672delC	ENST00000452508.2	+	39	5912	c.5723delC	c.(5722-5724)acafs	p.T1908fs	ATM_ENST00000278616.4_Frame_Shift_Del_p.T1908fs			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1908					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TCACAAAGAACAATGCTTGCT	0.398			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(5722-5724)aafs	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							165	149	154					11																	108178672		2201	4298	6499	SO:0001589	frameshift_variant	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108178672delC	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5723delC	11.37:g.108178672delC	ENSP00000388058:p.Thr1908fs	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Frame_Shift_Del_p.T1908fs	p.T1908fs	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	38	6108	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1908					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Frame_Shift_Del	DEL	ENST00000452508.2	37	c.5723delC	CCDS31669.1																																																																																				0.398	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		23	43						23	43	---	---	---	---	-	108178672	C	-	108178672	7	5	272	1	0	1	0	1	0	0	0	0	1109	478	17	0	5869	0	ATM	11	108178672	Frame_Shift_Del	DEL	C	TCGA-EM-A1CT-01A-11D-A13W-08		108178672	26827844	20	5883											
SCN3B	55800	broad.mit.edu	37	chr11	123513260	123513260	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtgtagaggccagagtcGttcagagtgacgttgagcac	15	8	1	5	rs142613556		TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr11:123513260G>A	ENST00000392770.2	-	3	1141	c.339C>T	c.(337-339)aaC>aaT	p.N113N	SCN3B_ENST00000299333.3_Silent_p.N113N|SCN3B_ENST00000530277.1_Silent_p.N113N	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	113	Ig-like C2-type.				atrial cardiac muscle cell action potential (GO:0086014)|axon guidance (GO:0007411)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of heart rate (GO:0010460)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|ventricular cardiac muscle cell action potential (GO:0086005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	Valproic Acid(DB00313)|Zonisamide(DB00909)	GGCCAGAGTCGTTCAGAGTGA	0.602													G|||	1	0.000199681	0	0	5008	,	,		19306	0.001		0	False		,,,				2504	0					ENST00000392770.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26						c.(337-339)aaC>aaT		sodium channel, voltage-gated, type III, beta subunit		G	,	0,4404		0,0,2202	106	99	101		339,339	-10.3	0.7	11	dbSNP_134	101	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	SCN3B	NM_001040151.1,NM_018400.3	,	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	,	113/216,113/216	123513260	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	55800				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity	g.chr11:123513260G>A	AJ243396	CCDS8442.1	11q24.1	2014-09-17	2012-02-28		ENSG00000166257	ENSG00000166257		"Sodium channels", "Voltage-gated ion channels / Sodium channels", "Immunoglobulin superfamily / V-set domain containing"	20665	protein-coding gene	gene with protein product		608214	"sodium channel, voltage-gated, type III, beta"			10688874	Standard	XR_428980		Approved	HSA243396	uc001pzb.1	Q9NY72	OTTHUMG00000166006	ENST00000392770.2:c.339C>T	11.37:g.123513260G>A						SCN3B_ENST00000299333.3_Silent_p.N113N|SCN3B_ENST00000530277.1_Silent_p.N113N	p.N113N	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	3	1141	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	113			Ig-like C2-type.		A5H1I5|Q17RL3|Q9ULR2	Silent	SNP	ENST00000392770.2	37	c.339C>T	CCDS8442.1																																																																																				0.602	SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387412.1	NM_018400		5	97	0	0	0	0.217242	0	5	97					A	123513260	G	A	123513260	2	1	272	1	0	0	0	0	0	0	0	1	13919	1136	40	1		1	SCN3B	11	123513260	Silent	SNP	G	TCGA-EM-A1CT-01A-11D-A13W-08	15334588	123513260	11493256	21	5884											
VSIG2	23584	broad.mit.edu	37	chr11	124618648	124618648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttggtgagaatgagctggcCagacacctcatctagaggat	13	8	2	4			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr11:124618648C>T	ENST00000326621.5	-	5	698	c.598G>A	c.(598-600)Ggc>Agc	p.G200S	VSIG2_ENST00000403470.1_Missense_Mutation_p.G200S|RP11-677M14.2_ENST00000531241.1_RNA	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	200	Ig-like C2-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		ATGAGCTGGCCAGACACCTCA	0.537																																						ENST00000403470.1																			0				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19						c.(598-600)Ggc>Agc		V-set and immunoglobulin domain containing 2							152	124	133					11																	124618648		2201	4299	6500	SO:0001583	missense	23584					integral to plasma membrane|membrane fraction		g.chr11:124618648C>T	AF061022	CCDS8452.1	11q24	2013-01-11			ENSG00000019102	ENSG00000019102		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing"	17149	protein-coding gene	gene with protein product		606011				9862345	Standard	NM_014312		Approved	CTXL, CTH	uc001qas.3	Q96IQ7	OTTHUMG00000150357	ENST00000326621.5:c.598G>A	11.37:g.124618648C>T	ENSP00000318684:p.Gly200Ser					VSIG2_ENST00000326621.5_Missense_Mutation_p.G200S	p.G200S			Q96IQ7	VSIG2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)	5	653	-	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	200			Ig-like C2-type.		O95791|Q9NX42	Missense_Mutation	SNP	ENST00000326621.5	37	c.598G>A	CCDS8452.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974024	0.92919	.	.	ENSG00000019102	ENST00000326621;ENST00000403470	T;T	0.12774	2.65;2.65	5.44	5.44	0.79542	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.38957	0.1060	M	0.77486	2.375	0.46798	D	0.999208	D	0.89917	1.0	D	0.91635	0.999	T	0.09250	-1.0683	10	0.66056	D	0.02	.	14.6271	0.68629	0.0:1.0:0.0:0.0	.	200	Q96IQ7	VSIG2_HUMAN	S	200	ENSP00000318684:G200S;ENSP00000385013:G200S	ENSP00000318684:G200S	G	-	1	0	VSIG2	124123858	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.370000	0.59517	2.835000	0.97688	0.591000	0.81541	GGC		0.537	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317785.1	NM_014312		19	28	0	0	0	0.557998	0	19	28					T	124618648	C	T	124618648	3	4	272	1	0	0	0	0	1	0	0	0	17221	594	21	2	397	2	VSIG2	11	124618648	Missense_Mutation	SNP	C	TCGA-EM-A1CT-01A-11D-A13W-08	1105388	124618648	10387868	22	5885											
SLC4A8	9498	broad.mit.edu	37	chr12	51855027	51855027	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtccagtagggaaaggtcaGcagtaccatgagattggcag	15	7	1	1			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr12:51855027G>A	ENST00000453097.2	+	9	1270	c.1053G>A	c.(1051-1053)caG>caA	p.Q351Q	SLC4A8_ENST00000394856.1_Silent_p.Q298Q|SLC4A8_ENST00000514353.3_Silent_p.Q298Q|SLC4A8_ENST00000358657.3_Silent_p.Q378Q|SLC4A8_ENST00000535225.2_Silent_p.Q298Q	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GGAAAGGTCAGCAGTACCATG	0.378																																						ENST00000453097.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55						c.(1051-1053)caG>caA		solute carrier family 4, sodium bicarbonate cotransporter, member 8							154	140	145					12																	51855027		2203	4300	6503	SO:0001819	synonymous_variant	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51855027G>A	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"Solute carriers"	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.1053G>A	12.37:g.51855027G>A						SLC4A8_ENST00000535225.2_Silent_p.Q298Q|SLC4A8_ENST00000514353.3_Silent_p.Q298Q|SLC4A8_ENST00000394856.1_Silent_p.Q298Q|SLC4A8_ENST00000358657.3_Silent_p.Q378Q	p.Q351Q	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	9	1270	+			351						Silent	SNP	ENST00000453097.2	37	c.1053G>A	CCDS44890.1																																																																																				0.378	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		3	54	0	0	0	0.150653	0	3	54					A	51855027	G	A	51855027	2	1	272	1	0	0	0	0	0	0	0	1	14659	962	34	2		2	SLC4A8	12	51855027	Silent	SNP	G	TCGA-EM-A1CT-01A-11D-A13W-08		51855027	81996868	23	5886											
CEP290	80184	broad.mit.edu	37	chr12	88514828	88514828	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actaattctttatccttttcCctagcatcagcctcagccag	4	14	3	0			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr12:88514828C>T	ENST00000552810.1	-	14	1648	c.1305G>A	c.(1303-1305)agG>agA	p.R435R	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Silent_p.R435R	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	435					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TATCCTTTTCCCTAGCATCAG	0.358																																						ENST00000552810.1																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						c.(1303-1305)agG>agA		centrosomal protein 290kDa							122	115	117					12																	88514828		1852	4086	5938	SO:0001819	synonymous_variant	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88514828C>T	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"Joubert syndrome 5", "nephrocystin-6", "cancer/testis antigen 87", "POC3 centriolar protein homolog (Chlamydomonas)", "Meckel syndrome, type 4"	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.1305G>A	12.37:g.88514828C>T						CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Silent_p.R435R	p.R435R	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN			14	1648	-			435					Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Silent	SNP	ENST00000552810.1	37	c.1305G>A	CCDS55858.1																																																																																				0.358	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		17	44	0	0	0	0.539581	0	17	44					T	88514828	C	T	88514828	2	4	272	1	0	0	0	0	0	0	0	1	3253	622	22	2		2	CEP290	12	88514828	Silent	SNP	C	TCGA-EM-A1CT-01A-11D-A13W-08	36659801	88514828	45337067	24	5887											
TMPO	7112	broad.mit.edu	37	chr12	98927427	98927427	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcttttgccaaaactgtTgtctctcattcactcactac	3	13	6	0			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr12:98927427T>C	ENST00000556029.1	+	3	921				TMPO_ENST00000266732.4_Silent_p.V464V|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000261210.5_Intron|TMPO_ENST00000343315.5_Intron	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCAAAACTGTTGTCTCTCATT	0.423																																						ENST00000266732.4																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1390-1392)gtT>gtC		thymopoietin							160	134	143					12																	98927427		2203	4300	6503	SO:0001627	intron_variant	7112					integral to membrane|nuclear inner membrane	DNA binding|lamin binding	g.chr12:98927427T>C		CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"LEM domain containing 4"	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.565+1811T>C	12.37:g.98927427T>C						TMPO_ENST00000393053.2_Intron|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000556029.1_Intron|TMPO_ENST00000261210.5_Intron	p.V464V	NM_003276.2	NP_003267.1	P42167	LAP2B_HUMAN			4	1630	+			0					A2T926|Q14861	Silent	SNP	ENST00000556029.1	37	c.1392T>C	CCDS31879.1																																																																																				0.423	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276		37	57	0	0	0	0.788014	0	37	57					C	98927427	T	C	98927427	1	2	272	0	1	0	0	0	0	0	0	0	16234	1799	63	3		3	TMPO	12	98927427	Intron	SNP	T	TCGA-EM-A1CT-01A-11D-A13W-08	10412599	98927427	34924468	25	5888											
MPHOSPH8	54737	broad.mit.edu	37	chr13	20220952	20220952	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgaaaacaagagaagatcccAaagaaaatagaaaaacaaaa	6	6	0	4			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr13:20220952A>T	ENST00000361479.5	+	3	807	c.739A>T	c.(739-741)Aaa>Taa	p.K247*	MPHOSPH8_ENST00000414242.2_Nonsense_Mutation_p.K247*	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	247	Lys-rich.				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)		agaagatcccaaagaaaatag	0.313																																						ENST00000361479.5																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(739-741)Aaa>Taa		M-phase phosphoprotein 8							27	32	30					13																	20220952		2126	4249	6375	SO:0001587	stop_gained	54737				cell cycle	cytoplasm|nucleus		g.chr13:20220952A>T	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.739A>T	13.37:g.20220952A>T	ENSP00000355388:p.Lys247*					MPHOSPH8_ENST00000414242.2_Nonsense_Mutation_p.K247*	p.K247*	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)	3	807	+		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)	247			Lys-rich.		B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Nonsense_Mutation	SNP	ENST00000361479.5	37	c.739A>T	CCDS9287.1	.	.	.	.	.	.	.	.	.	.	A	38	6.778124	0.97833	.	.	ENSG00000196199	ENST00000414242;ENST00000361479;ENST00000538024	.	.	.	6.02	6.02	0.97574	.	0.233845	0.47455	D	0.000236	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.542	0.84395	1.0:0.0:0.0:0.0	.	.	.	.	X	247	.	ENSP00000355388:K247X	K	+	1	0	MPHOSPH8	19118952	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.108000	0.77055	2.304000	0.77564	0.528000	0.53228	AAA		0.313	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2	NM_017520		32	48	0	0	0	0.729181	0	32	48					T	20220952	A	T	20220952	4	4	272	1	0	0	0	0	0	1	0	0	9727	131	5	5	749	5	MPHOSPH8	13	20220952	Nonsense_Mutation	SNP	A	TCGA-EM-A1CT-01A-11D-A13W-08		20220952	94948926	26	5889											
NALCN	259232	broad.mit.edu	37	chr13	101735461	101735461	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttgacagagagcaacacCgactgggccaggacgagtaa	12	11	0	2			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr13:101735461C>T	ENST00000251127.6	-	32	3753	c.3672G>A	c.(3670-3672)tcG>tcA	p.S1224S		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1224					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGAGCAACACCGACTGGGCCA	0.413																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(3670-3672)tcG>tcA		sodium leak channel, non-selective							128	125	126					13																	101735461		2203	4300	6503	SO:0001819	synonymous_variant	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101735461C>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3672G>A	13.37:g.101735461C>T							p.S1224S	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			32	3753	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1224					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	ENST00000251127.6	37	c.3672G>A	CCDS9498.1																																																																																				0.413	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		25	42	0	0	0	0.667858	0	25	42					T	101735461	C	T	101735461	2	4	272	1	0	0	0	0	0	0	0	1	10148	639	23	1		1	NALCN	13	101735461	Silent	SNP	C	TCGA-EM-A1CT-01A-11D-A13W-08	81514509	101735461	13434417	27	5890											
SERPINA9	327657	broad.mit.edu	37	chr14	94936076	94936076	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggggtgctctttgtggaGgaagggcgggggtatgcact	20	6	1	0	rs375474833	byFrequency	TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr14:94936076G>A	ENST00000380365.3	-	2	180	c.102C>T	c.(100-102)tcC>tcT	p.S34S	SERPINA9_ENST00000539349.1_5'Flank|SERPINA9_ENST00000298845.7_Silent_p.S52S|SERPINA9_ENST00000546329.1_Intron|SERPINA9_ENST00000448305.2_Intron|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000337425.5_Silent_p.S52S			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	34					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		TCTTTGTGGAGGAAGGGCGGG	0.562													G|||	2	0.000399361	0.0015	0	5008	,	,		17762	0		0	False		,,,				2504	0					ENST00000337425.5																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21						c.(154-156)tcC>tcT		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9		G	,	11,4003		0,11,1996	83	86	85		156,156	2.1	0.0	14		85	0,8332		0,0,4166	no	coding-synonymous,coding-synonymous	SERPINA9	NM_001042518.1,NM_175739.3	,	0,11,6162	AA,AG,GG		0.0,0.274,0.0891	,	52/336,52/436	94936076	11,12335	2007	4166	6173	SO:0001819	synonymous_variant	327657				regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	g.chr14:94936076G>A	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"Serine (or cysteine) peptidase inhibitors"	15995	protein-coding gene	gene with protein product		615677	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.102C>T	14.37:g.94936076G>A						SERPINA9_ENST00000448305.2_Intron|SERPINA9_ENST00000298845.7_Silent_p.S52S|SERPINA9_ENST00000546329.1_Intron|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000380365.3_Silent_p.S34S	p.S52S	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)	2	230	-		all_cancers(154;0.0691)|all_epithelial(191;0.233)	34					B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Silent	SNP	ENST00000380365.3	37	c.156C>T																																																																																					0.562	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2	NM_175739		27	50	0	0	0	0.717897	0	27	50					A	94936076	G	A	94936076	2	1	272	1	0	0	0	0	0	0	0	1	14095	987	35	2		2	SERPINA9	14	94936076	Silent	SNP	G	TCGA-EM-A1CT-01A-11D-A13W-08		94936076	12413464	28	5891											
CES8	283848	broad.mit.edu	37	chr16	67040714	67040714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atactgggccaactttgcccGcacagggtgagtctgccccc	11	15	1	1	rs201670214		TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr16:67040714G>A	ENST00000326686.5	+	13	1511	c.1511G>A	c.(1510-1512)cGc>cAc	p.R504H	CES4A_ENST00000338718.4_Intron|CES4A_ENST00000398354.1_Missense_Mutation_p.R434H|CES4A_ENST00000540579.1_Missense_Mutation_p.R406H|CES4A_ENST00000535696.1_Intron|CES4A_ENST00000540947.2_Intron|CES4A_ENST00000541479.1_Missense_Mutation_p.R457H|CES4A_ENST00000397205.2_Intron			Q5XG92	EST4A_HUMAN	carboxylesterase 4A	504						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						AACTTTGCCCGCACAGGGTGA	0.567																																						ENST00000326686.5																			0				large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						c.(1510-1512)cGc>cAc		carboxylesterase 4A		G	HIS/ARG,,	0,4074		0,0,2037	83	87	86		1217,,	2.2	0.9	16		86	1,8421		0,1,4210	yes	missense,intron,intron	CES4A	NM_001190201.1,NM_001190202.1,NM_173815.6	29,,	0,1,6247	AA,AG,GG		0.0119,0.0,0.0080	benign,,	406/464,,	67040714	1,12495	2037	4211	6248	SO:0001583	missense	283848					extracellular region	carboxylesterase activity	g.chr16:67040714G>A	AK094783	CCDS42174.1, CCDS42174.2, CCDS54024.1, CCDS54025.1, CCDS42174.3	16q22.1	2011-10-25	2010-10-12	2010-10-12	ENSG00000172824	ENSG00000172824		"Carboxylesterases"	26741	protein-coding gene	gene with protein product			"carboxylesterase 8 (putative)"	CES8		12975309, 17364878, 20931200	Standard	NM_001190201		Approved	FLJ37464	uc010vix.2	Q5XG92		ENST00000326686.5:c.1511G>A	16.37:g.67040714G>A	ENSP00000314145:p.Arg504His					CES4A_ENST00000338718.4_Intron|CES4A_ENST00000535696.1_Intron|CES4A_ENST00000541479.1_Missense_Mutation_p.R457H|CES4A_ENST00000397205.2_Intron|CES4A_ENST00000540947.2_Intron|CES4A_ENST00000398354.1_Missense_Mutation_p.R434H|CES4A_ENST00000540579.1_Missense_Mutation_p.R406H	p.R504H			Q5XG92	EST4A_HUMAN			13	1511	+			504					A8KAJ6|B7Z349|B7Z3L2|B7Z6R3|Q6UX55|Q8N9F4	Missense_Mutation	SNP	ENST00000326686.5	37	c.1511G>A		.	.	.	.	.	.	.	.	.	.	G	14.37	2.515376	0.44763	0.0	1.19E-4	ENSG00000172824	ENST00000541479;ENST00000398354;ENST00000326686;ENST00000538199;ENST00000540579	T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39	5.41	2.25	0.28309	.	0.731670	0.12145	N	0.495484	T	0.62539	0.2436	M	0.75884	2.315	0.25581	N	0.986796	B	0.23735	0.09	B	0.21546	0.035	T	0.57271	-0.7840	10	0.59425	D	0.04	.	4.9007	0.13773	0.085:0.1483:0.6133:0.1533	.	457	F5H5S4	.	H	457;434;504;397;406	ENSP00000443175:R457H;ENSP00000381397:R434H;ENSP00000314145:R504H;ENSP00000441103:R397H;ENSP00000441907:R406H	ENSP00000314145:R504H	R	+	2	0	CES4A	65598215	0.001000	0.12720	0.861000	0.33841	0.801000	0.45260	0.783000	0.26802	0.204000	0.20548	0.591000	0.81541	CGC		0.567	CES4A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173815		5	89	0	0	0	0.184627	0	5	89					A	67040714	G	A	67040714	3	1	272	1	0	0	0	0	1	0	0	0	3273	1087	38	1	1642	1	CES8	16	67040714	Missense_Mutation	SNP	G	TCGA-EM-A1CT-01A-11D-A13W-08		67040714	23314039	29	5892											
CYTSB	92521	broad.mit.edu	37	chr17	20163561	20163561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaatacggtggttccaagcGcaatgctctactgaaatggt	12	8	1	1			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr17:20163561G>A	ENST00000261503.5	+	12	2945	c.2894G>A	c.(2893-2895)cGc>cAc	p.R965H	SPECC1_ENST00000395527.4_Missense_Mutation_p.R965H|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000536879.1_Missense_Mutation_p.R305H|SPECC1_ENST00000395530.2_Missense_Mutation_p.R884H	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	965	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		GGTTCCAAGCGCAATGCTCTA	0.507																																						ENST00000395530.2																			0				breast(1)|large_intestine(3)|ovary(4)	8						c.(2650-2652)cGc>cAc		sperm antigen with calponin homology and coiled-coil domains 1							125	116	119					17																	20163561		2203	4300	6503	SO:0001583	missense	92521					nucleus		g.chr17:20163561G>A	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"sperm antigen HCMOGT 1", "cytokinesis and spindle organization B", "cytospin B"	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.2894G>A	17.37:g.20163561G>A	ENSP00000261503:p.Arg965His					SPECC1_ENST00000395527.4_Missense_Mutation_p.R965H|SPECC1_ENST00000261503.5_Missense_Mutation_p.R965H|SPECC1_ENST00000536879.1_Missense_Mutation_p.R305H|AC004702.2_ENST00000580225.1_lincRNA	p.R884H	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN		KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)	10	2859	+			965					B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	c.2651G>A	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.829930	0.91036	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000536879;ENST00000395527	D;D;T	0.95377	-3.69;-3.69;0.58	4.31	4.31	0.51392	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.98166	0.9394	M	0.93283	3.4	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	D	0.98968	1.0800	10	0.87932	D	0	-14.961	14.6715	0.68948	0.0:0.0:1.0:0.0	.	965;884;965	A8MV89;Q5M775-4;Q5M775	.;.;CYTSB_HUMAN	H	965;965;305;884	ENSP00000261503:R965H;ENSP00000438294:R305H;ENSP00000378898:R884H	ENSP00000261503:R965H	R	+	2	0	SPECC1	20104153	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.598000	0.90852	2.399000	0.81585	0.655000	0.94253	CGC		0.507	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		4	110	0	0	0	0.150653	0	4	110					A	20163561	G	A	20163561	3	1	272	1	0	0	0	0	1	0	0	0	4210	1087	38	1	3006	1	CYTSB	17	20163561	Missense_Mutation	SNP	G	TCGA-EM-A1CT-01A-11D-A13W-08		20163561	61031649	30	5893											
ZNF329	79673	broad.mit.edu	37	chr19	58639340	58639341	+	Frame_Shift_Ins	INS	-	-	G													ccacactgaggacaccggctINSgggaccctccctgctatgga							TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr19:58639340_58639341insG	ENST00000598312.1	-	4	1763_1764	c.1530_1531insC	c.(1528-1533)cccagcfs	p.S511fs	ZNF329_ENST00000358067.4_Frame_Shift_Ins_p.S511fs	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	511					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)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		GGACACCGGCTGGGACCCTCCC	0.5																																						ENST00000598312.1																			0				NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20						c.(1528-1533)ccgccgfs		zinc finger protein 329																																				SO:0001589	frameshift_variant	79673				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58639340_58639341insG	AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"Zinc fingers, C2H2-type"	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.1531dupC	19.37:g.58639343_58639343dupG	ENSP00000470008:p.Ser511fs					ZNF329_ENST00000358067.4_Frame_Shift_Ins_p.P511fs	p.P511fs	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)	4	1763_1764	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)	511					B3KR32|Q9H9R7	Frame_Shift_Ins	INS	ENST00000598312.1	37	c.1530_1531insC	CCDS12972.1																																																																																				0.5	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1	NM_024620		9	242						9	242	---	---	---	---	G	58639341	-	G	58639340	7	5	272	1	0	1	1	0	0	0	0	0	17844	1580	55	0	98	0	ZNF329	19	58639340	Frame_Shift_Ins	INS	-	TCGA-EM-A1CT-01A-11D-A13W-08		58639340	489643	31	5894											
ZBTB46	140685	broad.mit.edu	37	chr20	62421407	62421407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctccctccgtactgagacGgtgaaacctgctcttccttg	9	15	1	2	rs569028644		TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr20:62421407G>A	ENST00000245663.4	-	2	854	c.704C>T	c.(703-705)cCg>cTg	p.P235L	ZBTB46_ENST00000480766.1_5'Flank|ZBTB46_ENST00000395104.1_Missense_Mutation_p.P235L|ZBTB46_ENST00000302995.2_Missense_Mutation_p.P235L	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	235					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GTACTGAGACGGTGAAACCTG	0.602																																						ENST00000245663.4																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(703-705)cCg>cTg		zinc finger and BTB domain containing 46							83	76	78					20																	62421407		2203	4300	6503	SO:0001583	missense	140685				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr20:62421407G>A	AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	16094	protein-coding gene	gene with protein product	"BTB-ZF protein expressed in effector lymphocytes"	614639	"BTB (POZ) domain containing 4"	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.704C>T	20.37:g.62421407G>A	ENSP00000245663:p.Pro235Leu					ZBTB46_ENST00000302995.2_Missense_Mutation_p.P235L|ZBTB46_ENST00000395104.1_Missense_Mutation_p.P235L	p.P235L	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN			2	854	-	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)		235					E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Missense_Mutation	SNP	ENST00000245663.4	37	c.704C>T	CCDS13538.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.224409	0.58668	.	.	ENSG00000130584	ENST00000245663;ENST00000302995;ENST00000395104	T;T;T	0.20069	2.1;2.1;2.1	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.45975	0.1369	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.08391	-1.0724	10	0.36615	T	0.2	.	19.0349	0.92972	0.0:0.0:1.0:0.0	.	235	Q86UZ6	ZBT46_HUMAN	L	235	ENSP00000245663:P235L;ENSP00000303102:P235L;ENSP00000378536:P235L	ENSP00000245663:P235L	P	-	2	0	ZBTB46	61891851	1.000000	0.71417	0.563000	0.28383	0.014000	0.08584	7.419000	0.80179	2.749000	0.94314	0.655000	0.94253	CCG		0.602	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224		3	43	0	0	0	0.115264	0	3	43					A	62421407	G	A	62421407	3	1	272	1	0	0	0	0	1	0	0	0	17544	1116	39	1	1081	1	ZBTB46	20	62421407	Missense_Mutation	SNP	G	TCGA-EM-A1CT-01A-11D-A13W-08		62421407	604113	32	5895											
TBC1D25	4943	broad.mit.edu	37	chrX	48403341	48403341	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttctatctgactgggacctCagcacagcctttgccactgc	8	15	3	1			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chrX:48403341C>A	ENST00000376771.4	+	3	659	c.318C>A	c.(316-318)ctC>ctA	p.L106L	TBC1D25_ENST00000476141.1_Intron|TBC1D25_ENST00000537536.1_5'UTR	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	106					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						ACTGGGACCTCAGCACAGCCT	0.562																																						ENST00000376771.4																			0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(316-318)ctC>ctA		TBC1 domain family, member 25							102	82	89					X																	48403341		2203	4300	6503	SO:0001819	synonymous_variant	4943					intracellular	Rab GTPase activator activity	g.chrX:48403341C>A	L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"ornithine aminotransferase-like 1"	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.318C>A	X.37:g.48403341C>A						TBC1D25_ENST00000481090.1_Intron|TBC1D25_ENST00000427713.1_Intron|TBC1D25_ENST00000537536.1_5'UTR	p.L106L	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN			3	659	+			106					Q08AN9|Q3MII4|Q8TAR9	Silent	SNP	ENST00000376771.4	37	c.318C>A	CCDS35242.1																																																																																				0.562	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	NM_002536		3	34	1	0	0.004672	0.115264	0.00563388	3	34					A	48403341	C	A	48403341	2	1	272	1	0	0	0	0	0	0	0	1	15612	813	29	4		4	TBC1D25	23	48403341	Silent	SNP	C	TCGA-EM-A1CT-01A-11D-A13W-08		48403341	106867219	33	5896											
FAM179A	165186	broad.mit.edu	37	chr2	29226385	29226385	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctcctggcaatacctgcacTgcaatgatgagaagatgcag	10	10	1	3			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr2:29226385T>A	ENST00000379558.4	+	6	1018	c.667T>A	c.(667-669)Tgc>Agc	p.C223S	FAM179A_ENST00000403861.2_Missense_Mutation_p.C223S	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	223										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ATACCTGCACTGCAATGATGA	0.622																																						ENST00000379558.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(667-669)Tgc>Agc		family with sequence similarity 179, member A							34	40	38					2																	29226385		2091	4205	6296	SO:0001583	missense	165186						binding	g.chr2:29226385T>A	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.667T>A	2.37:g.29226385T>A	ENSP00000368876:p.Cys223Ser					FAM179A_ENST00000403861.2_Missense_Mutation_p.C223S	p.C223S	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN			6	1018	+			223					Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	c.667T>A	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	T	14.13	2.443235	0.43429	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.44482	1.69;0.92	5.01	5.01	0.66863	.	.	.	.	.	T	0.31231	0.0790	L	0.32530	0.975	0.30849	N	0.734831	B;B	0.12630	0.006;0.003	B;B	0.12156	0.007;0.005	T	0.23547	-1.0185	9	0.19147	T	0.46	.	11.1094	0.48223	0.0:0.0:0.0:1.0	.	223;223	F8W8E4;Q6ZUX3	.;F179A_HUMAN	S	223	ENSP00000368876:C223S;ENSP00000384699:C223S	ENSP00000368876:C223S	C	+	1	0	FAM179A	29079889	0.991000	0.36638	0.995000	0.50966	0.650000	0.38633	1.328000	0.33758	1.889000	0.54706	0.402000	0.26972	TGC		0.622	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		4	4	0	0	0	0.009096	0	4	4					A	29226385	T	A	29226385	3	1	273	1	0	0	0	0	1	0	0	0	5505	1580	55	5	685	5	FAM179A	2	29226385	Missense_Mutation	SNP	T	TCGA-EM-A1CU-01A-11D-A13W-08		29226385	213972988	1	5897											
GLI2	2736	broad.mit.edu	37	chr2	121748118	121748118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctcccagaactcctcccGcctcaccaccccccgaaact	3	24	2	1	rs138987487	byFrequency	TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr2:121748118G>A	ENST00000452319.1	+	14	4688	c.4628G>A	c.(4627-4629)cGc>cAc	p.R1543H	GLI2_ENST00000361492.4_Missense_Mutation_p.R1543H|GLI2_ENST00000314490.11_Intron					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AACTCCTCCCGCCTCACCACC	0.612													G|||	3	0.000599042	0	0	5008	,	,		16808	0.001		0.002	False		,,,				2504	0					ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(4627-4629)cGc>cAc		GLI family zinc finger 2		G	HIS/ARG	0,4406		0,0,2203	113	131	125		4628	5.0	1.0	2	dbSNP_134	125	6,8594	5.0+/-18.6	0,6,4294	yes	missense	GLI2	NM_005270.4	29	0,6,6497	AA,AG,GG		0.0698,0.0,0.0461	probably-damaging	1543/1587	121748118	6,13000	2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121748118G>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.4628G>A	2.37:g.121748118G>A	ENSP00000390436:p.Arg1543His					GLI2_ENST00000361492.4_Missense_Mutation_p.R1543H|GLI2_ENST00000314490.11_Intron	p.R1543H			P10070	GLI2_HUMAN			14	4688	+	Renal(3;0.0496)	Prostate(154;0.0623)	1543						Missense_Mutation	SNP	ENST00000452319.1	37	c.4628G>A	CCDS33283.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	29.3	4.995231	0.93167	0.0	6.98E-4	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.28895	1.59;1.59	4.98	4.98	0.66077	.	0.054412	0.64402	D	0.000001	T	0.53110	0.1776	L	0.61036	1.89	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.66847	0.886;0.947	T	0.53315	-0.8456	10	0.54805	T	0.06	.	18.4555	0.90718	0.0:0.0:1.0:0.0	.	1543;1198	P10070;P10070-2	GLI2_HUMAN;.	H	1543	ENSP00000390436:R1543H;ENSP00000354586:R1543H	ENSP00000354586:R1543H	R	+	2	0	GLI2	121464588	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	9.657000	0.98554	2.581000	0.87130	0.555000	0.69702	CGC		0.612	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		15	112	0	0	0	0.146539	0	15	112					A	121748118	G	A	121748118	3	1	273	1	0	0	0	0	1	0	0	0	6438	1087	38	1	4678	1	GLI2	2	121748118	Missense_Mutation	SNP	G	TCGA-EM-A1CU-01A-11D-A13W-08	92521733	121748118	121451255	2	5898											
UGT1A1	54658	broad.mit.edu	37	chr2	234669699	234669699	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctctgcatctgtctggctgTttagaagtgactttgtgaag	12	7	3	3			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr2:234669699T>C	ENST00000608383.1	+	1	766	c.766T>C	c.(766-768)Ttt>Ctt	p.F256L	UGT1A8_ENST00000305208.5_Missense_Mutation_p.F256L|UGT1A1_ENST00000608381.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000360418.3_Missense_Mutation_p.F256L|UGT1A1_ENST00000609767.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A4_ENST00000373409.3_Intron			P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	256					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	TGTCTGGCTGTTTAGAAGTGA	0.483																																						ENST00000360418.3																			0				breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30						c.(766-768)Ttt>Ctt			Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)						180	177	178					2																	234669699		2203	4300	6503	SO:0001583	missense	0				bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	g.chr2:234669699T>C	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"UDP glucuronosyltransferases"	12530	other	complex locus constituent		191740	"UDP glycosyltransferase 1 family, polypeptide A1"	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000608383.1:c.766T>C	2.37:g.234669699T>C	ENSP00000476741:p.Phe256Leu					UGT1A7_ENST00000373426.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000305208.5_Missense_Mutation_p.F256L|UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron	p.F256L			P22309	UD11_HUMAN		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	1	766	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	256					A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000608383.1	37	c.766T>C	CCDS2510.1	.	.	.	.	.	.	.	.	.	.	T	0.019	-1.453833	0.01071	.	.	ENSG00000241635	ENST00000305208;ENST00000360418	T;T	0.51817	0.69;0.69	5.55	-11.1	0.00147	.	.	.	.	.	T	0.10078	0.0247	N	0.00514	-1.41	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.20384	0.029;0.002	T	0.19031	-1.0318	9	0.15952	T	0.53	.	2.1448	0.03784	0.3579:0.2102:0.0693:0.3626	.	256;256	A6NJC3;P22309	.;UD11_HUMAN	L	256	ENSP00000304845:F256L;ENSP00000353593:F256L	ENSP00000304845:F256L	F	+	1	0	UGT1A1	234334438	0.000000	0.05858	0.000000	0.03702	0.232000	0.25224	-3.863000	0.00347	-3.237000	0.00208	-1.139000	0.01908	TTT		0.483	UGT1A1-203	KNOWN	basic|CCDS	protein_coding	protein_coding				5	184	0	0	0	0.014758	0	5	184					C	234669699	T	C	234669699	3	2	273	1	0	0	0	0	1	0	0	0	16941	1725	60	3	768	3	UGT1A1	2	234669699	Missense_Mutation	SNP	T	TCGA-EM-A1CU-01A-11D-A13W-08	112921581	234669699	8529674	3	5899											
BSN	8927	broad.mit.edu	37	chr3	49691153	49691153	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaccacagctgtggctccTtgtccagctgggctgccacg	12	16	0	0			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr3:49691153T>C	ENST00000296452.4	+	5	4278	c.4164T>C	c.(4162-4164)ccT>ccC	p.P1388P		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1388					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTGTGGCTCCTTGTCCAGCTG	0.622																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(4162-4164)ccT>ccC		bassoon presynaptic cytomatrix protein							53	57	55					3																	49691153		2203	4300	6503	SO:0001819	synonymous_variant	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49691153T>C	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.4164T>C	3.37:g.49691153T>C							p.P1388P	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	4278	+			1388					O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	c.4164T>C	CCDS2800.1																																																																																				0.622	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		8	51	0	0	0	0.105934	0	8	51					C	49691153	T	C	49691153	2	2	273	1	0	0	0	0	0	0	0	1	1530	1596	56	3		3	BSN	3	49691153	Silent	SNP	T	TCGA-EM-A1CU-01A-11D-A13W-08		49691153	148331277	4	5900											
CAMKV	79012	broad.mit.edu	37	chr3	49898222	49898222	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggatcttgcggaagagattCttatcatggttctcataatc	9	7	4	1			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr3:49898222C>A	ENST00000477224.1	-	8	1180	c.702G>T	c.(700-702)aaG>aaT	p.K234N	CAMKV_ENST00000498324.1_5'Flank|CAMKV_ENST00000463537.1_Missense_Mutation_p.K234N|CAMKV_ENST00000466940.1_Missense_Mutation_p.K191N|RN7SL217P_ENST00000584520.1_RNA|CAMKV_ENST00000467248.1_Missense_Mutation_p.K159N|CAMKV_ENST00000488336.1_Missense_Mutation_p.K234N|CAMKV_ENST00000296471.7_Missense_Mutation_p.K206N			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	234	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGAAGAGATTCTTATCATGGT	0.502																																						ENST00000477224.1																			0				central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7						c.(700-702)aaG>aaT		CaM kinase-like vesicle-associated							197	193	194					3																	49898222		2203	4300	6503	SO:0001583	missense	79012					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr3:49898222C>A	BC017363	CCDS33762.1	3p21.31	2005-03-04			ENSG00000164076	ENSG00000164076			28788	protein-coding gene	gene with protein product		614993				12477932	Standard	XM_005265478		Approved	MGC8407, VACAMKL	uc003cxt.1	Q8NCB2	OTTHUMG00000158288	ENST00000477224.1:c.702G>T	3.37:g.49898222C>A	ENSP00000419195:p.Lys234Asn					CAMKV_ENST00000488336.1_Missense_Mutation_p.K234N|CAMKV_ENST00000296471.7_Missense_Mutation_p.K206N|CAMKV_ENST00000463537.1_Missense_Mutation_p.K234N|CAMKV_ENST00000467248.1_Missense_Mutation_p.K159N|CAMKV_ENST00000466940.1_Missense_Mutation_p.K191N	p.K234N			Q8NCB2	CAMKV_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	8	1180	-			234			Protein kinase.		A6NFD4|Q6FIB8|Q8NBS8|Q8NC85|Q8NDU4|Q8WTT8|Q9BQC9|Q9H0Q5	Missense_Mutation	SNP	ENST00000477224.1	37	c.702G>T	CCDS33762.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491901	0.44352	.	.	ENSG00000164076	ENST00000296471;ENST00000488336;ENST00000463537;ENST00000477224;ENST00000467248;ENST00000466940	T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.21	2.22	0.28083	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	0.44483	D	0.000447	T	0.59865	0.2225	N	0.21324	0.655	0.50039	D	0.99984	D;D;D;D;D;D;D	0.76494	0.992;0.997;0.996;0.996;0.996;0.999;0.996	P;D;D;D;P;D;D	0.70935	0.872;0.971;0.935;0.935;0.893;0.936;0.935	T	0.59820	-0.7382	10	0.54805	T	0.06	.	5.51	0.16876	0.0:0.5709:0.1464:0.2827	.	191;197;234;159;206;234;234	E7ETR1;B4DMF2;B2RDF9;B4DM24;Q8NCB2-2;Q8NCB2-3;Q8NCB2	.;.;.;.;.;.;CAMKV_HUMAN	N	206;234;234;234;159;191	ENSP00000296471:K206N;ENSP00000418809:K234N;ENSP00000417614:K234N;ENSP00000419195:K234N;ENSP00000420053:K159N;ENSP00000420724:K191N	ENSP00000296471:K206N	K	-	3	2	CAMKV	49873226	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.599000	0.36751	1.322000	0.45245	0.561000	0.74099	AAG		0.502	CAMKV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350584.4	NM_024046		21	142	1	0	1.96292e-10	0.055883	2.41159e-10	21	142					A	49898222	C	A	49898222	3	1	273	1	0	0	0	0	1	0	0	0	2608	912	32	4	819	4	CAMKV	3	49898222	Missense_Mutation	SNP	C	TCGA-EM-A1CU-01A-11D-A13W-08	207069	49898222	148124208	5	5901											
BBX	56987	broad.mit.edu	37	chr3	107429455	107429455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagaagaggaagacgaagagGaggatattgataaggtaagt	15	1	0	5			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr3:107429455G>A	ENST00000325805.8	+	4	435	c.148G>A	c.(148-150)Gag>Aag	p.E50K	BBX_ENST00000416476.2_Missense_Mutation_p.E50K|BBX_ENST00000415149.2_Missense_Mutation_p.E50K|BBX_ENST00000402543.1_Missense_Mutation_p.E50K|BBX_ENST00000406780.1_Missense_Mutation_p.E50K			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	50	Poly-Glu.				bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			agacgaagaggaggaTATTGA	0.348																																						ENST00000415149.2																			0				breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49						c.(148-150)Gag>Aag		bobby sox homolog (Drosophila)							64	59	61					3																	107429455		2203	4300	6503	SO:0001583	missense	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107429455G>A	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"x 001 protein"					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.148G>A	3.37:g.107429455G>A	ENSP00000319974:p.Glu50Lys					BBX_ENST00000406780.1_Missense_Mutation_p.E50K|BBX_ENST00000325805.8_Missense_Mutation_p.E50K|BBX_ENST00000416476.2_Missense_Mutation_p.E50K|BBX_ENST00000402543.1_Missense_Mutation_p.E50K	p.E50K	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		4	475	+			50			Poly-Glu.		A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	c.148G>A	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444084	0.63067	.	.	ENSG00000114439	ENST00000415149;ENST00000402543;ENST00000325805;ENST00000427402;ENST00000416476;ENST00000431630;ENST00000449335;ENST00000456817;ENST00000458458;ENST00000437908;ENST00000456419;ENST00000402163;ENST00000406780;ENST00000413213;ENST00000449271;ENST00000449213;ENST00000457496;ENST00000429270	D;D;D;D;D;D;D;D;D;D;D;D;D	0.98701	-4.57;-4.59;-4.59;-4.96;-5.05;-4.94;-4.96;-5.08;-4.57;-4.36;-1.84;-4.53;-4.53	5.66	5.66	0.87406	.	0.367561	0.33834	N	0.004512	D	0.98362	0.9456	L	0.27053	0.805	0.58432	D	0.999998	B;B;D;B	0.69078	0.001;0.001;0.997;0.0	B;B;D;B	0.75020	0.004;0.003;0.985;0.001	D	0.99913	1.1210	10	0.87932	D	0	-2.6004	19.7304	0.96180	0.0:0.0:1.0:0.0	.	50;50;50;50	C9JA69;Q8WY36;A2RRM7;Q8WY36-2	.;BBX_HUMAN;.;.	K	50	ENSP00000408358:E50K;ENSP00000385317:E50K;ENSP00000319974:E50K;ENSP00000413320:E50K;ENSP00000403860:E50K;ENSP00000408297:E50K;ENSP00000413274:E50K;ENSP00000385518:E50K;ENSP00000385530:E50K;ENSP00000403806:E50K;ENSP00000406554:E50K;ENSP00000407662:E50K;ENSP00000414673:E50K	ENSP00000319974:E50K	E	+	1	0	BBX	108912145	1.000000	0.71417	0.991000	0.47740	0.989000	0.77384	6.937000	0.75898	2.836000	0.97738	0.650000	0.86243	GAG		0.348	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		6	33	0	0	0	0.021553	0	6	33					A	107429455	G	A	107429455	3	1	273	1	0	0	0	0	1	0	0	0	1343	1175	41	2	150	2	BBX	3	107429455	Missense_Mutation	SNP	G	TCGA-EM-A1CU-01A-11D-A13W-08	57531233	107429455	90592975	6	5902											
ABCC5	10057	broad.mit.edu	37	chr3	183655701	183655701	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcctcacctgacagtgccaCtgaacagcaccggctcttga	9	15	2	3	rs377607475		TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr3:183655701C>A	ENST00000334444.6	-	26	4082	c.3842G>T	c.(3841-3843)aGt>aTt	p.S1281I	ABCC5_ENST00000265586.6_Missense_Mutation_p.S1238I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1281	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	GACAGTGCCACTGAACAGCAC	0.552																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3841-3843)aGt>aTt		ATP-binding cassette, sub-family C (CFTR/MRP), member 5		C	ILE/SER	0,4248		0,0,2124	67	70	69		3842	5.5	1.0	3		69	1,8475		0,1,4237	no	missense	ABCC5	NM_005688.2	142	0,1,6361	AA,AC,CC		0.0118,0.0,0.0079	benign	1281/1438	183655701	1,12723	2124	4238	6362	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183655701C>A	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3842G>T	3.37:g.183655701C>A	ENSP00000333926:p.Ser1281Ile					ABCC5_ENST00000265586.6_Missense_Mutation_p.S1238I	p.S1281I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		26	4082	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		1281			ABC transporter 2.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.3842G>T	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	C	8.087	0.773689	0.16051	0.0	1.18E-4	ENSG00000114770	ENST00000334444;ENST00000265586	D;D	0.94138	-3.36;-3.36	5.49	5.49	0.81192	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.044196	0.85682	D	0.000000	D	0.95217	0.8449	M	0.89095	3.005	0.58432	D	0.999999	B;P	0.42039	0.015;0.769	B;P	0.45829	0.048;0.494	D	0.94019	0.7291	10	0.18710	T	0.47	-16.0933	19.3693	0.94479	0.0:1.0:0.0:0.0	.	1238;1281	Q86UX3;O15440	.;MRP5_HUMAN	I	1281;1238	ENSP00000333926:S1281I;ENSP00000265586:S1238I	ENSP00000265586:S1238I	S	-	2	0	ABCC5	185138395	0.980000	0.34600	0.998000	0.56505	0.975000	0.68041	2.506000	0.45433	2.583000	0.87209	0.655000	0.94253	AGT		0.552	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		9	49	1	0	0.000274275	0.047766	0.000327606	9	49					A	183655701	C	A	183655701	3	1	273	1	0	0	0	0	1	0	0	0	56	565	20	4	491	4	ABCC5	3	183655701	Missense_Mutation	SNP	C	TCGA-EM-A1CU-01A-11D-A13W-08	76226246	183655701	14366729	7	5903											
MAML1	9794	broad.mit.edu	37	chr5	179200917	179200917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctctgctgccgtgcccgGcatgaacaccttgggtccat	11	15	1	1			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr5:179200917G>A	ENST00000292599.3	+	5	2353	c.2090G>A	c.(2089-2091)gGc>gAc	p.G697D	MAML1_ENST00000503050.1_Intron	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)			GCCGTGCCCGGCATGAACACC	0.587																																						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.(2089-2091)gGc>gAc		mastermind-like 1 (Drosophila)							129	131	130					5																	179200917		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.chr5:179200917G>A	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.2090G>A	5.37:g.179200917G>A	ENSP00000292599:p.Gly697Asp					MAML1_ENST00000503050.1_Intron	p.G697D	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	2353	+	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)	697						Missense_Mutation	SNP	ENST00000292599.3	37	c.2090G>A	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141521	0.77775	.	.	ENSG00000161021	ENST00000292599	T	0.53206	0.63	4.67	4.67	0.58626	.	0.000000	0.64402	D	0.000002	T	0.65249	0.2673	L	0.58101	1.795	0.58432	D	0.999993	D	0.89917	1.0	D	0.71184	0.972	T	0.68281	-0.5450	10	0.56958	D	0.05	-19.2681	17.576	0.87949	0.0:0.0:1.0:0.0	.	697	Q92585	MAML1_HUMAN	D	697	ENSP00000292599:G697D	ENSP00000292599:G697D	G	+	2	0	MAML1	179133523	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.666000	0.61554	2.149000	0.67028	0.462000	0.41574	GGC		0.587	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		4	132	0	0	0	0.014758	0	4	132					A	179200917	G	A	179200917	3	1	273	1	0	0	0	0	1	0	0	0	9205	1203	42	2	2108	2	MAML1	5	179200917	Missense_Mutation	SNP	G	TCGA-EM-A1CU-01A-11D-A13W-08		179200917	1714343	8	5904											
HIST1H4B	8366	broad.mit.edu	37	chr6	26027331	26027331	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccacgagtctcctcataaatCaaaccggaaattcgcttaac	5	13	3	0	rs369387838		TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr6:26027331C>G	ENST00000377364.3	-	1	149	c.150G>C	c.(148-150)ttG>ttC	p.L50F		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	50					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						CCTCATAAATCAAACCGGAAA	0.562																																						ENST00000377364.3																			0				large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						c.(148-150)ttG>ttC		histone cluster 1, H4b							81	72	75					6																	26027331		2203	4300	6503	SO:0001583	missense	8366				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26027331C>G	X67081	CCDS4572.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124529	ENSG00000278705		"Histones / Replication-dependent"	4789	protein-coding gene	gene with protein product		602829	"H4 histone family, member I", "histone 1, H4b"	H4FI		9119399, 12408966	Standard	NM_003544		Approved	H4/I	uc003nfr.3	P62805	OTTHUMG00000014417	ENST00000377364.3:c.150G>C	6.37:g.26027331C>G	ENSP00000366581:p.Leu50Phe						p.L50F	NM_003544.2	NP_003535.1	P62805	H4_HUMAN			1	149	-			50					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000377364.3	37	c.150G>C	CCDS4572.1	.	.	.	.	.	.	.	.	.	.	c	9.243	1.038722	0.19669	.	.	ENSG00000124529	ENST00000377364	T	0.67865	-0.29	4.65	-3.15	0.05233	.	0.000000	0.47093	U	0.000255	T	0.46229	0.1382	.	.	.	0.26830	N	0.968603	.	.	.	.	.	.	T	0.56177	-0.8022	7	0.59425	D	0.04	.	8.896	0.35465	0.1961:0.2621:0.5418:0.0	.	.	.	.	F	50	ENSP00000366581:L50F	ENSP00000366581:L50F	L	-	3	2	HIST1H4B	26135310	0.955000	0.32602	0.105000	0.21289	0.000000	0.00434	-0.020000	0.12525	-0.864000	0.04078	-1.104000	0.02111	TTG		0.562	HIST1H4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040079.2	NM_003544		25	46	0	0	0	0.116897	0	25	46					G	26027331	C	G	26027331	3	3	273	1	0	0	0	0	1	0	0	0	7166	825	29	4	165	4	HIST1H4B	6	26027331	Missense_Mutation	SNP	C	TCGA-EM-A1CU-01A-11D-A13W-08		26027331	145087736	9	5905											
AIM1	202	broad.mit.edu	37	chr6	106992724	106992724	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttggatccaaaggttccaGtattgatgtattgggaattg	11	5	0	1			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr6:106992724G>T	ENST00000369066.3	+	11	4491	c.4004G>T	c.(4003-4005)aGt>aTt	p.S1335I	AIM1_ENST00000535438.1_Missense_Mutation_p.S154I|AIM1_ENST00000487681.1_3'UTR	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AAAGGTTCCAGTATTGATGTA	0.333																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(4003-4005)aGt>aTt		absent in melanoma 1							121	123	122					6																	106992724		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106992724G>T	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"suppression of tumorigenicity 4", "beta-gamma crystallin domain containing 1"	601797	"suppression of tumorigenicity 4 (malignant melanoma)"	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.4004G>T	6.37:g.106992724G>T	ENSP00000358062:p.Ser1335Ile					AIM1_ENST00000487681.1_3'UTR|AIM1_ENST00000535438.1_Missense_Mutation_p.S154I	p.S1335I	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	11	4491	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	1335			Beta/gamma crystallin 'Greek key' 7.		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.4004G>T	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171999	0.57584	.	.	ENSG00000112297	ENST00000369066;ENST00000457437;ENST00000535438	T;T;T	0.77620	-1.11;-1.11;-1.11	5.72	4.74	0.60224	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.479492	0.28296	N	0.015864	T	0.73442	0.3587	M	0.66297	2.02	0.30547	N	0.765859	P;B	0.37636	0.603;0.033	P;B	0.49597	0.616;0.044	T	0.72297	-0.4335	10	0.59425	D	0.04	.	7.0063	0.24838	0.2421:0.0:0.7579:0.0	.	154;1335	B4DU04;Q9Y4K1	.;AIM1_HUMAN	I	1335;154;154	ENSP00000358062:S1335I;ENSP00000391419:S154I;ENSP00000439183:S154I	ENSP00000358062:S1335I	S	+	2	0	AIM1	107099417	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.525000	0.35953	2.703000	0.92315	0.561000	0.74099	AGT		0.333	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			23	97	1	0	2.21704e-12	0.076483	2.8039e-12	23	97					T	106992724	G	T	106992724	3	4	273	1	0	0	0	0	1	0	0	0	430	1029	36	4	4046	4	AIM1	6	106992724	Missense_Mutation	SNP	G	TCGA-EM-A1CU-01A-11D-A13W-08	80965393	106992724	64122343	10	5906											
PCLO	27445	broad.mit.edu	37	chr7	82545550	82545550	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctgataaggtgaaacttGctgatggtacaaagtttgtt	11	4	1	3			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr7:82545550G>A	ENST00000333891.9	-	7	12089	c.11752C>T	c.(11752-11754)Caa>Taa	p.Q3918*	PCLO_ENST00000423517.2_Nonsense_Mutation_p.Q3918*|PCLO_ENST00000437081.1_Nonsense_Mutation_p.Q638*	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTGAAACTTGCTGATGGTAC	0.458																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(11752-11754)Caa>Taa		piccolo presynaptic cytomatrix protein							404	401	402					7																	82545550		2028	4176	6204	SO:0001587	stop_gained	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82545550G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.11752C>T	7.37:g.82545550G>A	ENSP00000334319:p.Gln3918*					PCLO_ENST00000437081.1_Nonsense_Mutation_p.Q638*|PCLO_ENST00000333891.8_Nonsense_Mutation_p.Q3918*	p.Q3918*	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			7	12089	-			3849						Nonsense_Mutation	SNP	ENST00000333891.9	37	c.11752C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	32	5.117547	0.94385	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	.	.	.	5.51	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.0367	0.80635	0.0:0.1432:0.8568:0.0	.	.	.	.	X	3918;3918;638	.	ENSP00000334319:Q3918X	Q	-	1	0	PCLO	82383486	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.517000	0.73759	1.342000	0.45619	0.563000	0.77884	CAA		0.458	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		7	433	0	0	0	0.02938	0	7	433					A	82545550	G	A	82545550	4	1	273	1	0	0	0	0	0	1	0	0	11583	1328	46	2	3769	2	PCLO	7	82545550	Nonsense_Mutation	SNP	G	TCGA-EM-A1CU-01A-11D-A13W-08		82545550	76593113	11	5907											
MUC17	140453	broad.mit.edu	37	chr7	100684160	100684160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctgaaggtaccagcatgCcaacctcaactcctagtgaa	7	13	2	2			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr7:100684160C>T	ENST00000306151.4	+	3	9527	c.9463C>T	c.(9463-9465)Cca>Tca	p.P3155S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3155	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCCAACCTCAAC	0.478																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(9463-9465)Cca>Tca		mucin 17, cell surface associated							296	301	299					7																	100684160		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684160C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9463C>T	7.37:g.100684160C>T	ENSP00000302716:p.Pro3155Ser						p.P3155S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	9527	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3155			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.9463C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	2.356	-0.347730	0.05208	.	.	ENSG00000169876	ENST00000306151	T	0.06608	3.28	0.905	-1.81	0.07882	.	.	.	.	.	T	0.05227	0.0139	N	0.11560	0.145	0.09310	N	1	D	0.57571	0.98	D	0.70227	0.968	T	0.11275	-1.0594	9	0.05721	T	0.95	.	0.2536	0.00209	0.2082:0.1993:0.2083:0.3842	.	3155	Q685J3	MUC17_HUMAN	S	3155	ENSP00000302716:P3155S	ENSP00000302716:P3155S	P	+	1	0	MUC17	100470880	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-4.691000	0.00198	-1.762000	0.01308	0.121000	0.15741	CCA		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	382	0	0	0	0.021553	0	6	382					T	100684160	C	T	100684160	3	4	273	1	0	0	0	0	1	0	0	0	9974	739	26	2	9473	2	MUC17	7	100684160	Missense_Mutation	SNP	C	TCGA-EM-A1CU-01A-11D-A13W-08	18138610	100684160	58454503	12	5908											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		34	55	0	0	0	0.069456	0	34	55					T	140453136	A	T	140453136	3	4	273	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A1CU-01A-11D-A13W-08	39768976	140453136	18685527	13	5909											
VAV2	7410	broad.mit.edu	37	chr9	136635556	136635556	+	Frame_Shift_Del	DEL	T	T	-													cccgggacttgtaggggtacTtgagtgtggtgtccagctgc							TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr9:136635556delT	ENST00000371850.3	-	27	2322	c.2291delA	c.(2290-2292)aagfs	p.K764fs	VAV2_ENST00000406606.3_Frame_Shift_Del_p.K754fs|VAV2_ENST00000371851.1_Frame_Shift_Del_p.K754fs	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	764	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GTAGGGGTACTTGAGTGTGGT	0.637																																						ENST00000371851.1																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(2260-2262)agfs		vav 2 guanine nucleotide exchange factor							165	126	139					9																	136635556		2203	4300	6503	SO:0001589	frameshift_variant	7410				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	g.chr9:136635556delT		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12658	protein-coding gene	gene with protein product		600428	"vav 2 oncogene"			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.2291delA	9.37:g.136635556delT	ENSP00000360916:p.Lys764fs					VAV2_ENST00000406606.3_Frame_Shift_Del_p.K754fs|VAV2_ENST00000371850.3_Frame_Shift_Del_p.K764fs	p.K754fs			P52735	VAV2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)	25	2586	-			764			SH2.		A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Frame_Shift_Del	DEL	ENST00000371850.3	37	c.2261delA	CCDS48053.1																																																																																				0.637	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			14	85						14	85	---	---	---	---	-	136635556	T	-	136635556	7	5	273	1	0	1	0	1	0	0	0	0	17129	1609	56	0	361	0	VAV2	9	136635556	Frame_Shift_Del	DEL	T	TCGA-EM-A1CU-01A-11D-A13W-08		136635556	4577875	14	5910											
TSPAN14	81619	broad.mit.edu	37	chr10	82267030	82267030	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacccggatgcatggaatcgAccctgtggtgctggtcctga	14	11	0	1			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr10:82267030A>G	ENST00000429989.3	+	4	402	c.179A>G	c.(178-180)gAc>gGc	p.D60G	TSPAN14_ENST00000341863.6_Missense_Mutation_p.D60G|TSPAN14_ENST00000372158.1_Missense_Mutation_p.D60G|TSPAN14_ENST00000372156.1_Missense_Mutation_p.D60G|TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000372164.3_Missense_Mutation_p.D43G	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14	60					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			CATGGAATCGACCCTGTGGTG	0.592																																						ENST00000429989.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						c.(178-180)gAc>gGc		tetraspanin 14							140	120	127					10																	82267030		2203	4300	6503	SO:0001583	missense	81619					integral to membrane		g.chr10:82267030A>G	AF311903	CCDS7369.1, CCDS44448.1	10q23.1	2013-02-14	2005-03-21	2005-03-21	ENSG00000108219	ENSG00000108219		"Tetraspanins"	23303	protein-coding gene	gene with protein product			"transmembrane 4 superfamily member 14"	TM4SF14		11230166	Standard	NM_030927		Approved	DC-TM4F2, MGC11352	uc001kcj.4	Q8NG11	OTTHUMG00000018615	ENST00000429989.3:c.179A>G	10.37:g.82267030A>G	ENSP00000396270:p.Asp60Gly					TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000341863.6_Missense_Mutation_p.D60G|TSPAN14_ENST00000372156.1_Missense_Mutation_p.D60G|TSPAN14_ENST00000372158.1_Missense_Mutation_p.D60G|TSPAN14_ENST00000372164.3_Missense_Mutation_p.D43G	p.D60G	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	Colorectal(32;0.229)		4	402	+			60					A6NHE1|B4DHY6|D3DWD7|D3DWD8|Q567U7|Q9BU34|Q9H0U1	Missense_Mutation	SNP	ENST00000429989.3	37	c.179A>G	CCDS7369.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.599488	0.87055	.	.	ENSG00000108219	ENST00000429989;ENST00000372160;ENST00000372157;ENST00000372164;ENST00000372158;ENST00000341863;ENST00000372156	T;T;T;T;T;T	0.78816	-1.21;2.91;-1.21;-1.21;-1.21;-1.21	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.84964	0.5589	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.77557	0.986;0.99	T	0.83271	-0.0043	10	0.28530	T	0.3	-34.6248	12.6842	0.56938	1.0:0.0:0.0:0.0	.	60;43	Q8NG11;Q8NG11-2	TSN14_HUMAN;.	G	60;60;30;43;60;60;60	ENSP00000396270:D60G;ENSP00000361230:D30G;ENSP00000361237:D43G;ENSP00000361231:D60G;ENSP00000344076:D60G;ENSP00000361229:D60G	ENSP00000344076:D60G	D	+	2	0	TSPAN14	82257010	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.144000	0.94629	1.939000	0.56221	0.454000	0.30748	GAC		0.592	TSPAN14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049081.2	NM_030927		3	40	0	0	0	0.014758	0	3	40					G	82267030	A	G	82267030	3	3	273	1	0	0	0	0	1	0	0	0	16635	275	10	3	189	3	TSPAN14	10	82267030	Missense_Mutation	SNP	A	TCGA-EM-A1CU-01A-11D-A13W-08		82267030	53267717	15	5911											
IFT46	56912	broad.mit.edu	37	chr11	118422948	118422948	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggtgtagtgcacagtcgCagggggcttagaacggtgta	16	8	0	1			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr11:118422948C>T	ENST00000264021.3	-	8	1004	c.586G>A	c.(586-588)Gcg>Acg	p.A196T	IFT46_ENST00000530872.1_Missense_Mutation_p.A247T|IFT46_ENST00000264020.2_Missense_Mutation_p.A247T	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	196					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						TGCACAGTCGCAGGGGGCTTA	0.443																																						ENST00000264020.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(739-741)Gcg>Acg		intraflagellar transport 46 homolog (Chlamydomonas)							212	184	193					11																	118422948		2200	4295	6495	SO:0001583	missense	56912				flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding	g.chr11:118422948C>T	AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"Intraflagellar transport homologs"	26146	protein-coding gene	gene with protein product	"cilia and flagella associated protein 32"		"chromosome 11 open reading frame 60", "intraflagellar transport 46 homolog (Chlamydomonas)"	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.586G>A	11.37:g.118422948C>T	ENSP00000264021:p.Ala196Thr					IFT46_ENST00000264021.3_Missense_Mutation_p.A196T|IFT46_ENST00000530872.1_Missense_Mutation_p.A247T	p.A247T	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN			9	1116	-			196					A8K0F6|Q9H6V5	Missense_Mutation	SNP	ENST00000264021.3	37	c.739G>A	CCDS53718.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716135	0.89205	.	.	ENSG00000118096	ENST00000264021;ENST00000264020;ENST00000530872;ENST00000531939	T;T;T;T	0.53423	0.85;0.84;0.85;0.62	5.64	5.64	0.86602	.	0.052249	0.85682	D	0.000000	T	0.66963	0.2843	M	0.70275	2.135	0.80722	D	1	D;P;P	0.61697	0.99;0.476;0.48	P;B;B	0.60173	0.87;0.223;0.28	T	0.68228	-0.5464	10	0.59425	D	0.04	0.0092	19.683	0.95971	0.0:1.0:0.0:0.0	.	247;196;247	E9PR06;Q9NQC8;Q9NQC8-2	.;IFT46_HUMAN;.	T	196;247;247;196	ENSP00000264021:A196T;ENSP00000264020:A247T;ENSP00000432384:A247T;ENSP00000435826:A196T	ENSP00000264020:A247T	A	-	1	0	IFT46	117928158	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	6.654000	0.74387	2.653000	0.90120	0.561000	0.74099	GCG		0.443	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389627.1	NM_020153		5	154	0	0	0	0.014758	0	5	154					T	118422948	C	T	118422948	3	4	273	1	0	0	0	0	1	0	0	0	7560	710	25	2	348	2	IFT46	11	118422948	Missense_Mutation	SNP	C	TCGA-EM-A1CU-01A-11D-A13W-08		118422948	16583568	16	5912											
HSPA8	3312	broad.mit.edu	37	chr11	122931873	122931873	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaacttgattctttgcggCatcaccgatcaaccgttcag	8	12	4	1			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr11:122931873C>T	ENST00000532636.1	-	2	279	c.160G>A	c.(160-162)Gcc>Acc	p.A54T	SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000526110.1_Missense_Mutation_p.A54T|HSPA8_ENST00000534319.1_5'Flank|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000227378.3_Missense_Mutation_p.A54T|HSPA8_ENST00000533540.1_Missense_Mutation_p.A54T|HSPA8_ENST00000534624.1_Missense_Mutation_p.A54T|HSPA8_ENST00000453788.2_Missense_Mutation_p.A54T			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	54					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		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;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TTCTTTGCGGCATCACCGATC	0.438																																					Colon(21;486 594 5900 6733 14272)	ENST00000534624.1																			0				breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36						c.(160-162)Gcc>Acc		heat shock 70kDa protein 8							86	72	77					11																	122931873		2202	4299	6501	SO:0001583	missense	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122931873C>T	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"Heat shock proteins / HSP70"	5241	protein-coding gene	gene with protein product		600816	"heat shock 70kD protein 8"	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.160G>A	11.37:g.122931873C>T	ENSP00000437125:p.Ala54Thr					HSPA8_ENST00000533540.1_Missense_Mutation_p.A54T|HSPA8_ENST00000227378.3_Missense_Mutation_p.A54T|HSPA8_ENST00000532636.1_Missense_Mutation_p.A54T|HSPA8_ENST00000526110.1_Missense_Mutation_p.A54T|HSPA8_ENST00000453788.2_Missense_Mutation_p.A54T	p.A54T	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	2	436	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	54					Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.160G>A	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157373	0.78114	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000526110;ENST00000525463;ENST00000525624;ENST00000534567;ENST00000527387;ENST00000532182;ENST00000524590;ENST00000530391	T;T;T;T;T;T;T;T;T;T;T;T;T	0.04194	5.37;5.37;5.37;5.37;5.37;5.37;3.68;5.37;5.37;5.37;5.37;5.37;5.37	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.20577	0.0495	M	0.92833	3.35	0.80722	D	1	P;P;B;B;P	0.47762	0.745;0.9;0.416;0.362;0.9	P;P;B;B;P	0.49140	0.527;0.601;0.139;0.085;0.601	T	0.29336	-1.0015	10	0.87932	D	0	-16.5281	17.4081	0.87479	0.0:1.0:0.0:0.0	.	54;54;54;54;54	B4DTX2;Q53GZ6;E7ET08;P11142-2;P11142	.;.;.;.;HSP7C_HUMAN	T	54	ENSP00000437125:A54T;ENSP00000437189:A54T;ENSP00000432083:A54T;ENSP00000404372:A54T;ENSP00000227378:A54T;ENSP00000433584:A54T;ENSP00000436762:A54T;ENSP00000435154:A54T;ENSP00000431641:A54T;ENSP00000436183:A54T;ENSP00000434415:A54T;ENSP00000434565:A54T;ENSP00000434851:A54T	ENSP00000227378:A54T	A	-	1	0	HSPA8	122437083	1.000000	0.71417	0.982000	0.44146	0.234000	0.25298	7.816000	0.86201	2.151000	0.67156	0.484000	0.47621	GCC		0.438	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			9	64	0	0	0	0.047766	0	9	64					T	122931873	C	T	122931873	3	4	273	1	0	0	0	0	1	0	0	0	7416	710	25	2	1812	2	HSPA8	11	122931873	Missense_Mutation	SNP	C	TCGA-EM-A1CU-01A-11D-A13W-08	4508925	122931873	12074643	17	5913											
NCKAP1L	3071	broad.mit.edu	37	chr12	54936440	54936440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcttcgaaatgcctatcggGaggtgtctcgggccttccac	12	12	1	0			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr12:54936440G>A	ENST00000293373.6	+	31	3434	c.3355G>A	c.(3355-3357)Gag>Aag	p.E1119K	RP11-1049A21.2_ENST00000547942.1_RNA|NCKAP1L_ENST00000545638.2_Missense_Mutation_p.E1069K	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	1119					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGCCTATCGGGAGGTGTCTCG	0.542																																						ENST00000293373.6																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.(3355-3357)Gag>Aag		NCK-associated protein 1-like							170	144	153					12																	54936440		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54936440G>A	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"hematopoietic protein 1"	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.3355G>A	12.37:g.54936440G>A	ENSP00000293373:p.Glu1119Lys					NCKAP1L_ENST00000545638.2_Missense_Mutation_p.E1069K	p.E1119K	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN			31	3434	+			1119					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.3355G>A	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514957	0.85389	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.32272	1.46;1.46	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.45597	0.1350	L	0.47716	1.5	0.52501	D	0.999954	D	0.69078	0.997	D	0.79108	0.992	T	0.10222	-1.0639	10	0.09338	T	0.73	-20.6294	16.6815	0.85292	0.0:0.0:1.0:0.0	.	1119	P55160	NCKPL_HUMAN	K	1119;1069	ENSP00000293373:E1119K;ENSP00000445596:E1069K	ENSP00000293373:E1119K	E	+	1	0	NCKAP1L	53222707	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	7.742000	0.85008	2.802000	0.96397	0.655000	0.94253	GAG		0.542	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		7	113	0	0	0	0.02938	0	7	113					A	54936440	G	A	54936440	3	1	273	1	0	0	0	0	1	0	0	0	10222	1175	41	2	3477	2	NCKAP1L	12	54936440	Missense_Mutation	SNP	G	TCGA-EM-A1CU-01A-11D-A13W-08		54936440	78915455	18	5914											
OAS3	4940	broad.mit.edu	37	chr12	113388602	113388602	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggaccaggggccccgccgCgcagagatccttgatgagat	14	12	0	3			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr12:113388602C>T	ENST00000228928.7	+	7	1658	c.1479C>T	c.(1477-1479)cgC>cgT	p.R493R	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	493	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GGCCCCGCCGCGCAGAGATCC	0.582																																						ENST00000228928.7																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						c.(1477-1479)cgC>cgT		2'-5'-oligoadenylate synthetase 3, 100kDa							78	86	84					12																	113388602		1943	4120	6063	SO:0001819	synonymous_variant	4940				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113388602C>T	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"2'-5'-oligoadenylate synthetase 3 (100 kD)"			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.1479C>T	12.37:g.113388602C>T						RP1-71H24.1_ENST00000552784.1_RNA	p.R493R	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN			7	1658	+			493			OAS domain 2.		Q2HJ14|Q9H3P5	Silent	SNP	ENST00000228928.7	37	c.1479C>T	CCDS44981.1																																																																																				0.582	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			23	95	0	0	0	0.083992	0	23	95					T	113388602	C	T	113388602	2	4	273	1	0	0	0	0	0	0	0	1	10801	755	27	1		1	OAS3	12	113388602	Silent	SNP	C	TCGA-EM-A1CU-01A-11D-A13W-08	58452162	113388602	20463293	19	5915											
DYNC1LI2	1783	broad.mit.edu	37	chr16	66757703	66757703	+	Frame_Shift_Del	DEL	A	A	-													ctatccagttcttcctgaacAtttgacaacacagtcttttg							TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr16:66757703delA	ENST00000258198.2	-	13	1607	c.1401delT	c.(1399-1401)aatfs	p.N467fs	DYNC1LI2_ENST00000443351.2_Frame_Shift_Del_p.N390fs|DYNC1LI2_ENST00000379482.2_Intron|RP11-63M22.2_ENST00000569274.1_RNA	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	467					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|centrosome localization (GO:0051642)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		CTTCCTGAACATTTGACAACA	0.333																																						ENST00000258198.2																			0				central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15						c.(1399-1401)aafs		dynein, cytoplasmic 1, light intermediate chain 2							123	109	114					16																	66757703		2201	4300	6501	SO:0001589	frameshift_variant	1783				transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity	g.chr16:66757703delA	AF035812	CCDS10818.1, CCDS67049.1	16q22.1	2008-02-05	2005-11-25	2005-11-25	ENSG00000135720	ENSG00000135720		"Cytoplasmic dyneins"	2966	protein-coding gene	gene with protein product		611406	"dynein, cytoplasmic, light intermediate polypeptide 2"	DNCLI2		16260502	Standard	NM_006141		Approved		uc002eqb.1	O43237	OTTHUMG00000137523	ENST00000258198.2:c.1401delT	16.37:g.66757703delA	ENSP00000258198:p.Asn467fs					DYNC1LI2_ENST00000443351.2_Frame_Shift_Del_p.N390fs|RP11-63M22.2_ENST00000569274.1_RNA|DYNC1LI2_ENST00000379482.2_Intron	p.N467fs	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)	13	1607	-		Ovarian(137;0.0563)	467					A8K6V1|B4DZP4|Q8TAT3	Frame_Shift_Del	DEL	ENST00000258198.2	37	c.1401delT	CCDS10818.1																																																																																				0.333	DYNC1LI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268846.1	NM_006141		10	75						10	75	---	---	---	---	-	66757703	A	-	66757703	7	5	273	1	0	1	0	1	0	0	0	0	4845	214	8	0	81	0	DYNC1LI2	16	66757703	Frame_Shift_Del	DEL	A	TCGA-EM-A1CU-01A-11D-A13W-08		66757703	23597050	20	5916											
MUC16	94025	broad.mit.edu	37	chr19	9082462	9082462	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acaaggatgttggggtctcaGatggtgtgaaggttaacgtc	15	5	1	2			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr19:9082462G>A	ENST00000397910.4	-	1	9556	c.9353C>T	c.(9352-9354)tCt>tTt	p.S3118F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3119	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGGGTCTCAGATGGTGTGAA	0.483																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(9352-9354)tCt>tTt		mucin 16, cell surface associated							280	293	289					19																	9082462		1977	4163	6140	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9082462G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.9353C>T	19.37:g.9082462G>A	ENSP00000381008:p.Ser3118Phe						p.S3118F	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	9556	-			3119			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.9353C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.919362	0.00498	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	0.541	-0.987	0.10249	.	.	.	.	.	T	0.01421	0.0046	N	0.08118	0	.	.	.	B	0.21821	0.061	B	0.14578	0.011	T	0.48115	-0.9063	7	0.87932	D	0	.	.	.	.	.	3118	B5ME49	.	F	3118	ENSP00000381008:S3118F	ENSP00000381008:S3118F	S	-	2	0	MUC16	8943462	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.290000	0.18975	-2.028000	0.00931	-2.281000	0.00270	TCT		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	258	0	0	0	0.014758	0	5	258					A	9082462	G	A	9082462	3	1	273	1	0	0	0	0	1	0	0	0	9973	942	33	2	34506	2	MUC16	19	9082462	Missense_Mutation	SNP	G	TCGA-EM-A1CU-01A-11D-A13W-08		9082462	50046521	21	5917											
SIK1	150094	broad.mit.edu	37	chr21	44836663	44836663	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctagggagcagggcatcaGgtcctccatctcacagtccc	11	15	2	0			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr21:44836663G>A	ENST00000270162.6	-	14	2443	c.2311C>T	c.(2311-2313)Ctg>Ttg	p.L771L		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	771					cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	CAGGGCATCAGGTCCTCCATC	0.657																																						ENST00000270162.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						c.(2311-2313)Ctg>Ttg		salt-inducible kinase 1							33	34	34					21																	44836663		2201	4299	6500	SO:0001819	synonymous_variant	150094				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr21:44836663G>A	BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"myocardial SNF1-like kinase"	605705	"SNF1-like kinase"	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.2311C>T	21.37:g.44836663G>A							p.L771L	NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN			14	2443	-			771					A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Silent	SNP	ENST00000270162.6	37	c.2311C>T	CCDS33575.1																																																																																				0.657	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195654.1	NM_173354		9	26	0	0	0	0.058154	0	9	26					A	44836663	G	A	44836663	2	1	273	1	0	0	0	0	0	0	0	1	14317	991	35	2		2	SIK1	21	44836663	Silent	SNP	G	TCGA-EM-A1CU-01A-11D-A13W-08		44836663	3293232	22	5918											
KRTAP10-5	386680	broad.mit.edu	37	chr21	45999747	45999747	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggggcacagcaggaggagaTgggcacgcagcaggcgggcc	20	10	0	1	rs201346007		TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr21:45999747T>C	ENST00000400372.1	-	1	734	c.709A>G	c.(709-711)Atc>Gtc	p.I237V	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	237	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						CAGGAGGAGATGGGCACGCAG	0.716																																						ENST00000400372.1																			0				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(709-711)Atc>Gtc		keratin associated protein 10-5							49	59	56					21																	45999747		2203	4298	6501	SO:0001583	missense	386680					keratin filament		g.chr21:45999747T>C	AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"Keratin associated proteins"	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.709A>G	21.37:g.45999747T>C	ENSP00000383223:p.Ile237Val					TSPEAR_ENST00000323084.4_Intron	p.I237V	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN			1	734	-			237			22 X 5 AA repeats of C-C-X(3).		Q0VAR7|Q0VAR8|Q70LJ3	Missense_Mutation	SNP	ENST00000400372.1	37	c.709A>G	CCDS42958.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.582454	0.00008	.	.	ENSG00000241123	ENST00000400372	T	0.00648	5.99	3.23	-6.45	0.01914	.	.	.	.	.	T	0.00271	0.0008	N	0.00972	-1.085	0.09310	N	1	B	0.20550	0.046	B	0.34991	0.193	T	0.40608	-0.9554	9	0.02654	T	1	.	1.6352	0.02740	0.1936:0.1672:0.097:0.5422	.	237	P60370	KR105_HUMAN	V	237	ENSP00000383223:I237V	ENSP00000383223:I237V	I	-	1	0	KRTAP10-5	44824175	0.001000	0.12720	0.003000	0.11579	0.002000	0.02628	-1.462000	0.02364	-3.314000	0.00189	-1.802000	0.00618	ATC		0.716	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1			4	41	0	0	0	0.02938	0	4	41					C	45999747	T	C	45999747	3	2	273	1	0	0	0	0	1	0	0	0	8512	1464	51	3	110	3	KRTAP10-5	21	45999747	Missense_Mutation	SNP	T	TCGA-EM-A1CU-01A-11D-A13W-08	1163084	45999747	2130148	23	5919											
MAGED1	9500	broad.mit.edu	37	chrX	51644751	51644751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgaggccgaagcccggGctgaagcaagaacccgcatg	14	13	0	3			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chrX:51644751G>A	ENST00000375722.1	+	12	2314	c.2062G>A	c.(2062-2064)Gct>Act	p.A688T	MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375695.2_Missense_Mutation_p.A744T|MAGED1_ENST00000326587.7_Missense_Mutation_p.A688T|MAGED1_ENST00000375772.3_Missense_Mutation_p.A688T			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	688					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)					CGAAGCCCGGGCTGAAGCAAG	0.577										Multiple Myeloma(10;0.10)																												ENST00000375695.2																			0				breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32						c.(2230-2232)Gct>Act		melanoma antigen family D, 1							64	57	59					X																	51644751		2203	4300	6503	SO:0001583	missense	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:51644751G>A	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.2062G>A	X.37:g.51644751G>A	ENSP00000364874:p.Ala688Thr	Multiple Myeloma(10;0.10)				MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375722.1_Missense_Mutation_p.A688T|MAGED1_ENST00000375772.3_Missense_Mutation_p.A688T|MAGED1_ENST00000326587.7_Missense_Mutation_p.A688T	p.A744T	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN			13	2383	+	Ovarian(276;0.236)		688					Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	ENST00000375722.1	37	c.2230G>A	CCDS14337.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805372	0.50315	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695	T;T;T;T	0.04654	3.61;3.61;3.61;3.58	4.09	4.09	0.47781	.	0.000000	0.43579	D	0.000543	T	0.11495	0.0280	L	0.34521	1.04	0.34623	D	0.718777	D;D	0.67145	0.996;0.993	D;D	0.77557	0.99;0.977	T	0.07908	-1.0748	10	0.62326	D	0.03	.	10.6836	0.45830	0.0:0.0:1.0:0.0	.	744;688	Q9Y5V3-2;Q9Y5V3	.;MAGD1_HUMAN	T	688;688;688;744	ENSP00000364927:A688T;ENSP00000364874:A688T;ENSP00000325333:A688T;ENSP00000364847:A744T	ENSP00000325333:A688T	A	+	1	0	MAGED1	51661491	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.578000	0.53892	2.284000	0.76573	0.513000	0.50165	GCT		0.577	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332		17	5	0	0	0	0.0333	0	17	5					A	51644751	G	A	51644751	3	1	273	1	0	0	0	0	1	0	0	0	9183	1203	42	2	2276	2	MAGED1	23	51644751	Missense_Mutation	SNP	G	TCGA-EM-A1CU-01A-11D-A13W-08		51644751	103625809	24	5920											
SP140	11262	broad.mit.edu	37	chr2	231113619	231113619	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gagacctttgatctaaaaacTccccaagtcactaatgaagg	7	10	2	3			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr2:231113619T>A	ENST00000392045.3	+	9	1026	c.912T>A	c.(910-912)acT>acA	p.T304T	SP140_ENST00000343805.6_Silent_p.T278T|SP140_ENST00000350136.5_Silent_p.T234T|SP140_ENST00000420434.3_Silent_p.T304T|SP140_ENST00000417495.3_Silent_p.T251T|SP140_ENST00000486687.2_Silent_p.T228T	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	304					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ATCTAAAAACTCCCCAAGTCA	0.423																																						ENST00000392045.3																			0				NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						c.(910-912)acT>acA		SP140 nuclear body protein							122	108	112					2																	231113619		1824	4078	5902	SO:0001819	synonymous_variant	11262				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:231113619T>A	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"Zinc fingers, PHD-type"	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.912T>A	2.37:g.231113619T>A						SP140_ENST00000343805.6_Silent_p.T278T|SP140_ENST00000486687.2_Silent_p.T228T|SP140_ENST00000350136.5_Silent_p.T234T|SP140_ENST00000417495.3_Silent_p.T251T|SP140_ENST00000420434.3_Silent_p.T304T	p.T304T	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	9	1026	+		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	304					E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Silent	SNP	ENST00000392045.3	37	c.912T>A	CCDS42831.1																																																																																				0.423	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		24	27	0	0	0	1	0	24	27					A	231113619	T	A	231113619	2	1	274	1	0	0	0	0	0	0	0	1	14962	1538	54	5		5	SP140	2	231113619	Silent	SNP	T	TCGA-EM-A1CV-01A-11D-A13W-08		231113619	12085754	1	5921											
SLC22A13	9390	broad.mit.edu	37	chr3	38307656	38307656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggacatcctcagccaccGcttcaatgagacgcagcctt	9	15	2	1	rs113229654	byFrequency	TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr3:38307656G>A	ENST00000311856.4	+	1	354	c.305G>A	c.(304-306)cGc>cAc	p.R102H	SLC22A13_ENST00000450935.2_Missense_Mutation_p.R61H	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	102					nicotinate transport (GO:2001142)|organic cation transport (GO:0015695)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	nicotinate transporter activity (GO:0090416)|organic cation transmembrane transporter activity (GO:0015101)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		CTCAGCCACCGCTTCAATGAG	0.592													G|||	11	0.00219649	8e-04	0	5008	,	,		21197	0		0.008	False		,,,				2504	0.002					ENST00000311856.4																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20						c.(304-306)cGc>cAc		solute carrier family 22 (organic anion/urate transporter), member 13		G	HIS/ARG	5,4401		0,5,2198	65	65	65		305	1.8	1.0	3	dbSNP_132	65	61,8539		0,61,4239	yes	missense	SLC22A13	NM_004256.3	29	0,66,6437	AA,AG,GG		0.7093,0.1135,0.5075	probably-damaging	102/552	38307656	66,12940	2203	4300	6503	SO:0001583	missense	9390					integral to plasma membrane	organic cation transmembrane transporter activity	g.chr3:38307656G>A	AB010438	CCDS2676.1	3p22.2	2013-07-18	2013-07-18	2003-10-15	ENSG00000172940	ENSG00000172940		"Solute carriers"	8494	protein-coding gene	gene with protein product		604047	"organic cationic transporter-like 3", "solute carrier family 22 (organic anion transporter), member 13"	ORCTL3		10072596, 18411268	Standard	NM_004256		Approved	OCTL1, OCTL3, OAT10	uc003chz.3	Q9Y226	OTTHUMG00000131086	ENST00000311856.4:c.305G>A	3.37:g.38307656G>A	ENSP00000310241:p.Arg102His					SLC22A13_ENST00000450935.2_Missense_Mutation_p.R61H	p.R102H	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)	1	354	+			102					B2RCV9|Q8IYG1	Missense_Mutation	SNP	ENST00000311856.4	37	c.305G>A	CCDS2676.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	.	10.96	1.499538	0.26861	0.001135	0.007093	ENSG00000172940	ENST00000311856;ENST00000450935	T;T	0.65732	-0.17;0.73	4.59	1.8	0.24995	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.242931	0.46442	N	0.000295	T	0.45094	0.1325	M	0.67953	2.075	0.25137	N	0.990529	B;B	0.17667	0.023;0.014	B;B	0.12837	0.008;0.003	T	0.42120	-0.9470	10	0.38643	T	0.18	.	5.0987	0.14747	0.2385:0.0:0.6197:0.1418	.	102;102	Q9Y226-2;Q9Y226	.;S22AD_HUMAN	H	102;61	ENSP00000310241:R102H;ENSP00000406929:R61H	ENSP00000310241:R102H	R	+	2	0	SLC22A13	38282660	0.999000	0.42202	0.993000	0.49108	0.765000	0.43378	2.749000	0.47492	0.131000	0.18576	-0.336000	0.08194	CGC		0.592	SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253746.2	NM_004256		3	36	0	0	0	1	0	3	36					A	38307656	G	A	38307656	3	1	274	1	0	0	0	0	1	0	0	0	14444	1087	38	1	307	1	SLC22A13	3	38307656	Missense_Mutation	SNP	G	TCGA-EM-A1CV-01A-11D-A13W-08		38307656	159714774	2	5922											
ANKRD17	26057	broad.mit.edu	37	chr4	74124072	74124083	+	In_Frame_Del	DEL	CCGCCTCCACCG	CCGCCTCCACCG	-													tggtgccgccgccgccacctCcgcctccaccgccgcctcca							TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr4:74124072_74124083delCCGCCTCCACCG	ENST00000358602.4	-	1	419_430	c.303_314delCGGTGGAGGCGG	c.(301-315)ggcggtggaggcgga>gga	p.101_105GGGGG>G	ANKRD17_ENST00000330838.6_In_Frame_Del_p.101_105GGGGG>G|RP11-692D12.1_ENST00000502790.1_RNA	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	101	Gly-rich.				blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			gccgccacctccgcctccaccgccgcctccac	0.651																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(301-315)gga>gg		ankyrin repeat domain 17			,	57,4193		9,39,2077					,	-2.3	0.0			47	135,8087		31,73,4007	no	coding,coding	ANKRD17	NM_198889.1,NM_032217.3	,	40,112,6084	A1A1,A1R,RR		1.6419,1.3412,1.5394	,	,		192,12280				SO:0001651	inframe_deletion	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:74124072_74124083delCCGCCTCCACCG	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.303_314delCGGTGGAGGCGG	4.37:g.74124072_74124083delCCGCCTCCACCG	ENSP00000351416:p.Gly105_Gly108del					ANKRD17_ENST00000330838.6_In_Frame_Del_p.GGGGG106del	p.GGGGG106del	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		1	419_430	-	Breast(15;0.000295)		106			Gly-rich.		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	In_Frame_Del	DEL	ENST00000358602.4	37	c.303_314delCGGTGGAGGCGG	CCDS34004.1																																																																																				0.651	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		14	59						14	59	---	---	---	---	-	74124083	CCGCCTCCACCG	-	74124072	7	5	274	1	0	1	0	1	0	0	0	0	646	855	30	0	7633	0	ANKRD17	4	74124072	In_Frame_Del	DEL	CCGCCTCCACCG	TCGA-EM-A1CV-01A-11D-A13W-08		74124072	117030204	3	5923											
EXOC2	55770	broad.mit.edu	37	chr6	637797	637797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagatgccggtcacaagggGgggttgtcgtgatcgagaca	17	7	1	3			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr6:637797G>A	ENST00000230449.4	-	2	157	c.22C>T	c.(22-24)Ccc>Tcc	p.P8S	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	8	IPT/TIG.				cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.Q6fs*28(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GTCACAAGGGGGGGTTGTCGT	0.473																																						ENST00000230449.4																			1	Deletion - Frameshift(1)	p.Q6fs*28(1)	ovary(1)	breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46						c.(22-24)Ccc>Tcc		exocyst complex component 2							119	118	119					6																	637797		2203	4300	6503	SO:0001583	missense	55770				exocytosis|protein transport			g.chr6:637797G>A	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"SEC5-like 1 (S. cerevisiae)"	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.22C>T	6.37:g.637797G>A	ENSP00000230449:p.Pro8Ser					EXOC2_ENST00000448181.3_Intron	p.P8S	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	2	157	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	8			IPT/TIG.		B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	ENST00000230449.4	37	c.22C>T	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.975654	0.74360	.	.	ENSG00000112685	ENST00000230449;ENST00000443083	D;D	0.84442	-1.85;-1.85	5.29	5.29	0.74685	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94948	0.8366	H	0.95884	3.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96114	0.9079	10	0.87932	D	0	-23.5931	19.2731	0.94018	0.0:0.0:1.0:0.0	.	8	Q96KP1	EXOC2_HUMAN	S	8	ENSP00000230449:P8S;ENSP00000406400:P8S	ENSP00000230449:P8S	P	-	1	0	EXOC2	582797	1.000000	0.71417	0.981000	0.43875	0.281000	0.26958	9.081000	0.94049	2.624000	0.88883	0.563000	0.77884	CCC		0.473	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		49	51	0	0	0	1	0	49	51					A	637797	G	A	637797	3	1	274	1	0	0	0	0	1	0	0	0	5302	1232	43	2	2860	2	EXOC2	6	637797	Missense_Mutation	SNP	G	TCGA-EM-A1CV-01A-11D-A13W-08		637797	170477270	4	5924											
SVOPL	136306	broad.mit.edu	37	chr7	138305790	138305790	+	Splice_Site	DEL	C	C	-													ctgcagggtccttggctgtaCctgggatataaatggtgcca							TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr7:138305790delC	ENST00000419765.3	-	13	1387		c.e13+1		SVOPL_ENST00000288513.5_Splice_Site|SVOPL_ENST00000436657.1_Splice_Site|SVOPL_ENST00000463557.1_Intron|SVOPL_ENST00000421622.1_Splice_Site	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like							integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CTTGGCTGTACCTGGGATATA	0.567																																						ENST00000421622.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						c.e10+1		SVOP-like							57	50	52					7																	138305790		2203	4300	6503	SO:0001630	splice_region_variant	136306					integral to membrane	transmembrane transporter activity	g.chr7:138305790delC	BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"SV2 related protein homolog (rat)-like"				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.1353+1G>-	7.37:g.138305790delC						SVOPL_ENST00000288513.5_Splice_Site|SVOPL_ENST00000463557.1_Intron|SVOPL_ENST00000419765.3_Splice_Site|SVOPL_ENST00000436657.1_Splice_Site				Q8N434	SVOPL_HUMAN			10	1202	-									Splice_Site	DEL	ENST00000419765.3	37		CCDS47721.1																																																																																				0.567	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4	NM_174959	Intron	8	15						8	15	---	---	---	---	-	138305790	C	-	138305790	8	5	274	1	0	1	0	1	0	0	1	0	15421	521	18	0	136	0	SVOPL	7	138305790	Splice_Site	DEL	C	TCGA-EM-A1CV-01A-11D-A13W-08		138305790	20832873	5	5925											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		19	37	0	0	0	1	0	19	37					T	140453136	A	T	140453136	3	4	274	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A1CV-01A-11D-A13W-08	2147346	140453136	18685527	6	5926											
CTNNAL1	8727	broad.mit.edu	37	chr9	111706098	111706098	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtcatcgtctttcagcTgaaatgtaatttaacaagtt	7	7	3	1			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr9:111706098T>A	ENST00000325551.4	-	17	2028		c.e17-2		FAM206A_ENST00000374624.3_Intron|CTNNAL1_ENST00000374595.4_Splice_Site|CTNNAL1_ENST00000325580.6_Splice_Site|CTNNAL1_ENST00000374594.1_Splice_Site	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1						cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		GTCTTTCAGCTGAAATGTAAT	0.358																																						ENST00000374595.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25						c.e17-2		catenin (cadherin-associated protein), alpha-like 1							119	118	118					9																	111706098		2203	4300	6503	SO:0001630	splice_region_variant	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111706098T>A	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"alpha-catulin", "alpha2-catulin"	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.1942-2A>T	9.37:g.111706098T>A						CTNNAL1_ENST00000325580.6_Splice_Site|CTNNAL1_ENST00000325551.4_Splice_Site|FAM206A_ENST00000374624.3_Intron|CTNNAL1_ENST00000374594.1_Splice_Site				Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	17	2021	-								B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Splice_Site	SNP	ENST00000325551.4	37		CCDS6775.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.019898	0.75275	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580;ENST00000374594	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6804	0.62481	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CTNNAL1	110745919	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.792000	0.69052	2.326000	0.78906	0.533000	0.62120	.		0.358	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798	Intron	14	47	0	0	0	1	0	14	47					A	111706098	T	A	111706098	5	1	274	1	0	0	0	0	0	0	1	0	4015	1594	55	5	276	5	CTNNAL1	9	111706098	Splice_Site	SNP	T	TCGA-EM-A1CV-01A-11D-A13W-08		111706098	29507333	7	5927											
PTCHD3	374308	broad.mit.edu	37	chr10	27687711	27687711	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtacaaaacatatataaagaCtacaaaatacttggactcac	4	8	1	1			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr10:27687711C>A	ENST00000438700.3	-	4	1933	c.1816G>T	c.(1816-1818)Gtc>Ttc	p.V606F		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	606					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TATATAAAGACTACAAAATAC	0.378																																						ENST00000438700.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						c.(1816-1818)Gtc>Ttc		patched domain containing 3							65	65	65					10																	27687711		2203	4300	6503	SO:0001583	missense	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27687711C>A	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.1816G>T	10.37:g.27687711C>A	ENSP00000417658:p.Val606Phe						p.V606F	NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN			4	1933	-			606					I3L499|Q6ZU28	Missense_Mutation	SNP	ENST00000438700.3	37	c.1816G>T	CCDS31173.1	.	.	.	.	.	.	.	.	.	.	C	2.635	-0.285376	0.05605	.	.	ENSG00000182077	ENST00000438700	D	0.85339	-1.97	4.19	4.19	0.49359	.	0.487586	0.20899	N	0.083661	D	0.84120	0.5402	L	0.39397	1.21	0.09310	N	1	B	0.21071	0.051	B	0.37091	0.241	T	0.79037	-0.1967	10	0.72032	D	0.01	-23.7507	16.3031	0.82832	0.0:1.0:0.0:0.0	.	606	Q3KNS1	PTHD3_HUMAN	F	606	ENSP00000417658:V606F	ENSP00000417658:V606F	V	-	1	0	PTCHD3	27727717	0.720000	0.27996	0.069000	0.20011	0.054000	0.15201	1.114000	0.31196	2.173000	0.68751	0.484000	0.47621	GTC		0.378	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		19	38	1	0	1.56452e-12	1	1.62247e-12	19	38					A	27687711	C	A	27687711	3	1	274	1	0	0	0	0	1	0	0	0	12734	565	20	4	491	4	PTCHD3	10	27687711	Missense_Mutation	SNP	C	TCGA-EM-A1CV-01A-11D-A13W-08		27687711	107847036	8	5928											
SUFU	51684	broad.mit.edu	37	chr10	104353455	104353455	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaacgggcagggcatcctGgagctgctgcggacagtgcc	17	11	0	0			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr10:104353455G>A	ENST00000369902.3	+	5	826	c.660G>A	c.(658-660)ctG>ctA	p.L220L	SUFU_ENST00000423559.2_Silent_p.L220L|SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000369899.2_Silent_p.L220L|RNU6-43P_ENST00000384302.1_RNA	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	220					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		AGGGCATCCTGGAGCTGCTGC	0.612			"D, F, S"		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation																													ENST00000369902.3			yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	"D, F, S"	suppressor of fused homolog (Drosophila)			O		medulloblastoma	medulloblastoma		0				breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24						c.(658-660)ctG>ctA		suppressor of fused homolog (Drosophila)							86	75	79					10																	104353455		2203	4300	6503	SO:0001819	synonymous_variant	51684	Medulloblastoma, associated with Germline SUFU Mutation	Familial Cancer Database		negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding	g.chr10:104353455G>A	AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.660G>A	10.37:g.104353455G>A						SUFU_ENST00000423559.2_Silent_p.L220L|SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000369899.2_Silent_p.L220L	p.L220L	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)	5	826	+		Colorectal(252;0.207)	220					Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Silent	SNP	ENST00000369902.3	37	c.660G>A	CCDS7537.1																																																																																				0.612	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050089.1	NM_016169		3	28	0	0	0	1	0	3	28					A	104353455	G	A	104353455	2	1	274	1	0	0	0	0	0	0	0	1	15367	1335	47	2		2	SUFU	10	104353455	Silent	SNP	G	TCGA-EM-A1CV-01A-11D-A13W-08	76665744	104353455	31181292	9	5929											
SRP14	6727	broad.mit.edu	37	chr15	40328596	40328597	+	In_Frame_Ins	INS	-	-	TGCTGC													gctgttgctgctgcggcaggINStgctgctgctgctgctgctg					rs550938068|rs556326548|rs377432895|rs371085676	byFrequency	TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	415c9e9c-96db-43f7-8e67-cc1d6bf5fef2	g.chr15:40328596_40328597insTGCTGC	ENST00000267884.6	-	5	419_420	c.348_349insGCAGCA	c.(346-351)gcacct>gcaGCAGCAcct	p.115_116insAA	SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000558720.1_In_Frame_Ins_p.35_36insAA|SRP14-AS1_ENST00000504245.1_lincRNA|SRP14_ENST00000560773.1_In_Frame_Ins_p.35_36insAA	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	115	Ala/Thr-rich.				cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		gctgcggcaggtgctgctgctg	0.48																																						ENST00000267884.6																			0				endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(346-351)gcctgc>gcGCAGCActgc		signal recognition particle 14kDa (homologous Alu RNA binding protein)																																				SO:0001652	inframe_insertion	6727				negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding	g.chr15:40328596_40328597insTGCTGC		CCDS42017.1	15q22	2008-08-15	2002-08-29		ENSG00000140319	ENSG00000140319			11299	protein-coding gene	gene with protein product		600708	"signal recognition particle 14kD (homologous Alu RNA-binding protein)"			8196634	Standard	NM_003134		Approved	ALURBP, MGC14326	uc001zkq.2	P37108		ENST00000267884.6:c.343_348dupGCAGCA	15.37:g.40328597_40328602dupTGCTGC	ENSP00000267884:p.Ala114_Ala115dup					SRP14_ENST00000560773.1_In_Frame_Ins_p.36_37AC>AQHC|SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000558720.1_In_Frame_Ins_p.36_37AC>AQHC	p.116_117AC>AQHC	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)	5	419_420	-		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	116			Ala/Thr-rich.		B5BUF5|Q6B0K5|Q96Q14	In_Frame_Ins	INS	ENST00000267884.6	37	c.348_349insGCAGCA	CCDS42017.1																																																																																				0.48	SRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418262.2	NM_003134		12	68						12	68	---	---	---	---	TGCTGC	40328597	-	TGCTGC	40328596	7	5	274	1	0	1	1	0	0	0	0	0	15152	1261	44	0	65	0	SRP14	15	40328596	In_Frame_Ins	INS	-	TCGA-EM-A1CV-01A-11D-A13W-08		40328596	62202796	10	5930											
ZNF90	7643	broad.mit.edu	37	chr19	20228941	20228941	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacccttgctacacataagaAaattcatactggagagataa	6	8	1	2	rs61998186	byFrequency	TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr19:20228941A>G	ENST00000418063.2	+	4	690	c.578A>G	c.(577-579)aAa>aGa	p.K193R	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	193					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|lung(2)|ovary(1)|skin(1)	5						ACACATAAGAAAATTCATACT	0.383													a|||	614	0.122604	0.0076	0.1873	5008	,	,		20447	0.3393		0.0885	False		,,,				2504	0.044					ENST00000418063.2																			0				breast(1)|lung(2)|ovary(1)|skin(1)	5						c.(577-579)aAa>aGa		zinc finger protein 90		A	ARG/LYS	24,1360		0,24,668	27	25	26		578	1.2	0.1	19	dbSNP_129	26	300,2882		14,272,1305	no	missense	ZNF90	NM_007138.1	26	14,296,1973	GG,GA,AA		9.428,1.7341,7.0959	benign	193/602	20228941	324,4242	692	1591	2283	SO:0001583	missense	7643					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20228941A>G	M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"Zinc fingers, C2H2-type", "-"	13165	protein-coding gene	gene with protein product		603973	"zinc finger protein 90 (HTF9)"			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.578A>G	19.37:g.20228941A>G	ENSP00000410466:p.Lys193Arg					ZNF90_ENST00000474284.1_Intron	p.K193R	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN			4	690	+			193					B9EH87	Missense_Mutation	SNP	ENST00000418063.2	37	c.578A>G	CCDS46028.1	314	0.14377289377289376	7	0.014227642276422764	56	0.15469613259668508	184	0.32167832167832167	67	0.08839050131926121	A	0.017	-1.495373	0.01009	0.017341	0.09428	ENSG00000213988	ENST00000418063	T	0.12984	2.63	1.18	1.18	0.20946	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.02697	-0.525	0.58432	P	4.000000000004E-6	B	0.26512	0.151	B	0.30716	0.119	T	0.48293	-0.9048	7	.	.	.	.	2.9598	0.05889	0.701:0.0:0.299:0.0	rs61998186	193	Q03938	ZNF90_HUMAN	R	193	ENSP00000410466:K193R	.	K	+	2	0	ZNF90	20089941	0.000000	0.05858	0.075000	0.20258	0.075000	0.17131	-0.704000	0.05058	0.251000	0.21505	0.248000	0.18094	AAA		0.383	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350101.1	NM_007138		3	28	0	0	0	1	0	3	28					G	20228941	A	G	20228941	3	3	274	1	0	0	0	0	1	0	0	0	18196	14	1	3	592	3	ZNF90	19	20228941	Missense_Mutation	SNP	A	TCGA-EM-A1CV-01A-11D-A13W-08		20228941	38900042	11	5931											
NCR1	9437	broad.mit.edu	37	chr19	55423572	55423572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaccttttaaccacagagaCgggactccagaaaggtaagt	9	10	0	2			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr19:55423572C>T	ENST00000291890.4	+	6	757	c.719C>T	c.(718-720)aCg>aTg	p.T240M	NCR1_ENST00000447255.1_Missense_Mutation_p.T239M|NCR1_ENST00000350790.5_Missense_Mutation_p.T145M|NCR1_ENST00000594765.1_Missense_Mutation_p.T239M|NCR1_ENST00000338835.5_Intron|NCR1_ENST00000357397.5_Missense_Mutation_p.T133M|NCR1_ENST00000598576.1_Missense_Mutation_p.T227M	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	240					cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		ACCACAGAGACGGGACTCCAG	0.512																																						ENST00000594765.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18						c.(715-717)aCg>aTg		natural cytotoxicity triggering receptor 1							129	121	124					19																	55423572		2203	4300	6503	SO:0001583	missense	9437				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	g.chr19:55423572C>T	AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6731	protein-coding gene	gene with protein product		604530	"lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.719C>T	19.37:g.55423572C>T	ENSP00000291890:p.Thr240Met					NCR1_ENST00000357397.5_Missense_Mutation_p.T133M|NCR1_ENST00000598576.1_Missense_Mutation_p.T227M|NCR1_ENST00000291890.4_Missense_Mutation_p.T240M|NCR1_ENST00000338835.5_Intron|NCR1_ENST00000350790.5_Missense_Mutation_p.T145M|NCR1_ENST00000447255.1_Missense_Mutation_p.T239M	p.T239M			O76036	NCTR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0449)	6	741	+			240					B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Missense_Mutation	SNP	ENST00000291890.4	37	c.716C>T	CCDS12911.1	.	.	.	.	.	.	.	.	.	.	C	6.539	0.467713	0.12402	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000350790;ENST00000357397	T;T;T;T	0.00561	6.86;6.89;6.85;6.59	2.54	-0.969	0.10310	.	619.523000	0.00166	N	0.000000	T	0.00468	0.0015	L	0.51914	1.62	0.09310	N	1	P;P;P;P	0.39480	0.675;0.546;0.675;0.546	B;B;B;B	0.21360	0.034;0.026;0.034;0.015	T	0.48007	-0.9072	10	0.59425	D	0.04	.	2.4668	0.04554	0.2339:0.4865:0.0:0.2796	.	133;145;239;240	O76036-5;B0V3L2;O76036-6;O76036	.;.;.;NCTR1_HUMAN	M	240;239;145;133	ENSP00000291890:T240M;ENSP00000404434:T239M;ENSP00000344358:T145M;ENSP00000349972:T133M	ENSP00000291890:T240M	T	+	2	0	NCR1	60115384	0.000000	0.05858	0.000000	0.03702	0.138000	0.21146	-0.221000	0.09202	-0.097000	0.12307	-0.124000	0.14976	ACG		0.512	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1			34	46	0	0	0	1	0	34	46					T	55423572	C	T	55423572	3	4	274	1	0	0	0	0	1	0	0	0	10237	536	19	1	741	1	NCR1	19	55423572	Missense_Mutation	SNP	C	TCGA-EM-A1CV-01A-11D-A13W-08	35194631	55423572	3705411	12	5932											
USP9X	8239	broad.mit.edu	37	chrX	41073950	41073950	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgcatatcattgtgaaaaAtgcaataaaaaggtacgggc	9	5	1	1			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chrX:41073950A>G	ENST00000324545.8	+	34	5952	c.5319A>G	c.(5317-5319)aaA>aaG	p.K1773K	USP9X_ENST00000378308.2_Silent_p.K1773K	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1773	USP.				axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATTGTGAAAAATGCAATAAAA	0.323																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(5317-5319)aaA>aaG		ubiquitin specific peptidase 9, X-linked							81	81	81					X																	41073950		2168	4280	6448	SO:0001819	synonymous_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41073950A>G	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.5319A>G	X.37:g.41073950A>G						USP9X_ENST00000378308.2_Silent_p.K1773K	p.K1773K	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			34	5952	+			1773					O75550|Q8WWT3|Q8WX12	Silent	SNP	ENST00000324545.8	37	c.5319A>G	CCDS43930.1																																																																																				0.323	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		19	68	0	0	0	1	0	19	68					G	41073950	A	G	41073950	2	3	274	1	0	0	0	0	0	0	0	1	17087	98	4	3		3	USP9X	23	41073950	Silent	SNP	A	TCGA-EM-A1CV-01A-11D-A13W-08		41073950	114196610	13	5933											
GPR112	139378	broad.mit.edu	37	chrX	135430491	135430491	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ataactaaatcttctaaaacAatgcatccaggttgtttgaa	5	7	2	1			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chrX:135430491A>C	ENST00000394143.1	+	6	4917	c.4626A>C	c.(4624-4626)acA>acC	p.T1542T	GPR112_ENST00000287534.4_Silent_p.T1479T|GPR112_ENST00000394141.1_Silent_p.T1337T|GPR112_ENST00000412101.1_Silent_p.T1337T|GPR112_ENST00000370652.1_Silent_p.T1542T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1542					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTTCTAAAACAATGCATCCAG	0.413																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(4624-4626)acA>acC		G protein-coupled receptor 112							105	101	102					X																	135430491		2203	4300	6503	SO:0001819	synonymous_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135430491A>C	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.4626A>C	X.37:g.135430491A>C						GPR112_ENST00000370652.1_Silent_p.T1542T|GPR112_ENST00000287534.4_Silent_p.T1479T|GPR112_ENST00000412101.1_Silent_p.T1337T|GPR112_ENST00000394141.1_Silent_p.T1337T	p.T1542T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	4917	+	Acute lymphoblastic leukemia(192;0.000127)		1542					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	c.4626A>C	CCDS35409.1																																																																																				0.413	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			5	122	0	0	0	1	0	5	122					C	135430491	A	C	135430491	2	2	274	1	0	0	0	0	0	0	0	1	6629	117	5	5		5	GPR112	23	135430491	Silent	SNP	A	TCGA-EM-A1CV-01A-11D-A13W-08	94356541	135430491	19840069	14	5934											
CYP4A11	1579	broad.mit.edu	37	chr1	47395831	47395831	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agggttagggagcctcctgaGacgcaggtggattccatttt	14	8	0	1	rs58897090	byFrequency	TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-11A-12D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	e2fc2905-a15a-4820-8fe8-32b2720c4e8e	g.chr1:47395831G>A	ENST00000310638.4	-	12	1547	c.1516C>T	c.(1516-1518)Ctc>Ttc	p.L506F	CYP4A11_ENST00000371904.4_Missense_Mutation_p.L507F|CYP4A11_ENST00000462347.1_Missense_Mutation_p.L408F	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	506			NGIHLRLRRLPNPCEDKDQL -> MESTCVSGGSLTLVKTR TSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAV PQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS (in CYP4A11V).		arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	AGCCTCCTGAGACGCAGGTGG	0.577																																						ENST00000310638.4																			0				endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36						c.(1516-1518)Ctc>Ttc		cytochrome P450, family 4, subfamily A, polypeptide 11	NADH(DB00157)						89	75	80					1																	47395831		2203	4298	6501	SO:0001583	missense	1579				long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47395831G>A	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"Cytochrome P450s"	2642	protein-coding gene	gene with protein product		601310	"cytochrome P450, subfamily IVA, polypeptide 11"	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.1516C>T	1.37:g.47395831G>A	ENSP00000311095:p.Leu506Phe					CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371904.4_Missense_Mutation_p.L507F	p.L506F	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN			12	1547	-			506		NGIHLRLRRLPNPCEDKDQL -> MESTCVSGGSLTLVKTR TSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAV PQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS (in CYP4A11V).			Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	c.1516C>T	CCDS543.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614624	0.46631	.	.	ENSG00000187048	ENST00000310638;ENST00000371904	T;T	0.69306	-0.39;-0.39	4.71	4.71	0.59529	.	0.139546	0.47093	D	0.000249	T	0.70081	0.3183	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.74272	-0.3719	10	0.87932	D	0	.	13.4352	0.61079	0.0794:0.0:0.9206:0.0	rs58897090	506	Q02928	CP4AB_HUMAN	F	506;507	ENSP00000311095:L506F;ENSP00000360971:L507F	ENSP00000311095:L506F	L	-	1	0	CYP4A11	47168418	0.015000	0.18098	0.719000	0.30619	0.232000	0.25224	0.018000	0.13422	2.330000	0.79161	0.645000	0.84053	CTC		0.577	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		5	94	0	0	0	0.001984	0	5	94					A	47395831	G	A	47395831	3	1	275	1	0	0	0	0	1	0	0	0	4183	942	33	2	47	2	CYP4A11	1	47395831	Missense_Mutation	SNP	G	TCGA-EM-A1CW-01A-21D-A13W-08		47395831	201854790	1	5935											
MTMR11	10903	broad.mit.edu	37	chr1	149902758	149902758	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtcaggaaccctgacactgtCatgaagagcaagaaggaaaa	11	8	2	4			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr1:149902758C>A	ENST00000439741.2	-	14	1640	c.1390G>T	c.(1390-1392)Gac>Tac	p.D464Y	MTMR11_ENST00000369140.3_Missense_Mutation_p.D392Y|MTMR11_ENST00000361405.6_Missense_Mutation_p.M261I|SF3B4_ENST00000271628.8_5'Flank|MTMR11_ENST00000406732.3_3'UTR|MTMR11_ENST00000492824.1_5'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	464	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)			CTGACACTGTCATGAAGAGCA	0.502																																						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.(1390-1392)Gac>Tac		myotubularin related protein 11							43	47	46					1																	149902758		2203	4300	6503	SO:0001583	missense	10903						phosphatase activity	g.chr1:149902758C>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.1390G>T	1.37:g.149902758C>A	ENSP00000391668:p.Asp464Tyr					MTMR11_ENST00000369140.3_Missense_Mutation_p.D392Y|MTMR11_ENST00000406732.3_3'UTR|MTMR11_ENST00000361405.6_Missense_Mutation_p.M261I|MTMR11_ENST00000492824.1_5'UTR	p.D464Y	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		14	1640	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		464			Myotubularin phosphatase.		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Missense_Mutation	SNP	ENST00000439741.2	37	c.1390G>T	CCDS53360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.089338|4.089338	0.76756|0.76756	.|.	.|.	ENSG00000014914|ENSG00000014914	ENST00000369140;ENST00000439741|ENST00000361405	D;D|T	0.92858|0.41400	-3.12;-3.12|1.0	5.16|5.16	5.16|5.16	0.70880|0.70880	Myotubularin phosphatase domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.41488|0.41488	0.1161|0.1161	L|L	0.45581|0.45581	1.43|1.43	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.998|.	T|T	0.09207|0.09207	-1.0685|-1.0685	10|7	0.87932|0.36615	D|T	0|0.2	.|.	17.3809|17.3809	0.87404|0.87404	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	392;464|.	A4FU01-4;A4FU01|.	.;MTMRB_HUMAN|.	Y|I	392;464|261	ENSP00000358136:D392Y;ENSP00000391668:D464Y|ENSP00000354941:M261I	ENSP00000358136:D392Y|ENSP00000354941:M261I	D|M	-|-	1|3	0|0	MTMR11|MTMR11	148169382|148169382	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	6.887000|6.887000	0.75616|0.75616	2.676000|2.676000	0.91093|0.91093	0.655000|0.655000	0.94253|0.94253	GAC|ATG		0.502	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873		16	36	1	0	6.31663e-08	0.003163	1.13699e-07	16	36					A	149902758	C	A	149902758	3	1	275	1	0	0	0	0	1	0	0	0	9940	826	29	4	794	4	MTMR11	1	149902758	Missense_Mutation	SNP	C	TCGA-EM-A1CW-01A-21D-A13W-08	102506927	149902758	99347863	2	5936											
OR10Z1	128368	broad.mit.edu	37	chr1	158576561	158576561	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcatgggcctgtactaaCtgcttccttctggctgccat	9	14	2	0			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr1:158576561C>T	ENST00000361284.1	+	1	333	c.333C>T	c.(331-333)aaC>aaT	p.N111N		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	111						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(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CCTGTACTAACTGCTTCCTTC	0.567																																						ENST00000361284.1																			0				endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(331-333)aaC>aaT		olfactory receptor, family 10, subfamily Z, member 1							130	136	134					1																	158576561		2203	4299	6502	SO:0001819	synonymous_variant	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576561C>T	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"GPCR / Class A : Olfactory receptors"	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.333C>T	1.37:g.158576561C>T							p.N111N	NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN			1	333	+	all_hematologic(112;0.0378)		111					Q5VYL0|Q6IFR7	Silent	SNP	ENST00000361284.1	37	c.333C>T	CCDS30901.1																																																																																				0.567	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		6	222	0	0	0	0.001168	0	6	222					T	158576561	C	T	158576561	2	4	275	1	0	0	0	0	0	0	0	1	10923	564	20	2		2	OR10Z1	1	158576561	Silent	SNP	C	TCGA-EM-A1CW-01A-21D-A13W-08	8673803	158576561	90674060	3	5937											
OR2M3	127062	broad.mit.edu	37	chr1	248366655	248366655	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaagtccatttctatggctGgttgtgccacacaaattttc	8	10	1	0			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr1:248366655G>T	ENST00000456743.1	+	1	324	c.286G>T	c.(286-288)Ggt>Tgt	p.G96C		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TTCTATGGCTGGTTGTGCCAC	0.502																																						ENST00000456743.1																			0				endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(286-288)Ggt>Tgt		olfactory receptor, family 2, subfamily M, member 3							286	286	286					1																	248366655		2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366655G>T		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"GPCR / Class A : Olfactory receptors"	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.286G>T	1.37:g.248366655G>T	ENSP00000389625:p.Gly96Cys						p.G96C	NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	324	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		96					B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.286G>T	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.040101	0.35989	.	.	ENSG00000228198	ENST00000456743	T	0.10005	2.92	2.44	1.49	0.22878	GPCR, rhodopsin-like superfamily (1);	0.899723	0.08975	U	0.866609	T	0.36303	0.0962	M	0.89658	3.05	0.09310	N	1	D	0.71674	0.998	D	0.67900	0.954	T	0.08493	-1.0719	10	0.87932	D	0	.	8.4808	0.33040	0.1257:0.0:0.8743:0.0	.	96	Q8NG83	OR2M3_HUMAN	C	96	ENSP00000389625:G96C	ENSP00000389625:G96C	G	+	1	0	OR2M3	246433278	0.017000	0.18338	0.003000	0.11579	0.002000	0.02628	1.867000	0.39499	0.344000	0.23847	0.405000	0.27470	GGT		0.502	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		129	310	1	0	4.83686e-69	0.00361	9.67373e-69	129	310					T	248366655	G	T	248366655	3	4	275	1	0	0	0	0	1	0	0	0	11011	1348	47	4	288	4	OR2M3	1	248366655	Missense_Mutation	SNP	G	TCGA-EM-A1CW-01A-21D-A13W-08	89790094	248366655	883966	4	5938											
GRIA2	2891	broad.mit.edu	37	chr4	158142278	158142278	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtctcttctaacagcatacaGataggtaggtaccctttgtg	9	9	2	1			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr4:158142278G>C	ENST00000264426.9	+	1	363	c.84G>C	c.(82-84)caG>caC	p.Q28H	GRIA2_ENST00000393815.2_Intron|GRIA2_ENST00000449365.1_5'Flank|GRIA2_ENST00000296526.7_Missense_Mutation_p.Q28H|GRIA2_ENST00000504801.1_Intron|GRIA2_ENST00000507898.1_Intron	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	28					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	ACAGCATACAGATAGGTAGGT	0.358																																						ENST00000296526.7																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(82-84)caG>caC		glutamate receptor, ionotropic, AMPA 2	L-Glutamic Acid(DB00142)						252	229	237					4																	158142278		2203	4300	6503	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158142278G>C		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.84G>C	4.37:g.158142278G>C	ENSP00000264426:p.Gln28His					GRIA2_ENST00000264426.9_Missense_Mutation_p.Q28H|GRIA2_ENST00000393815.2_Intron|GRIA2_ENST00000507898.1_Intron|GRIA2_ENST00000504801.1_Intron	p.Q28H	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	1	409	+	all_hematologic(180;0.24)	Renal(120;0.0458)	28					A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.84G>C	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.789921	0.50102	.	.	ENSG00000120251	ENST00000512774;ENST00000509417;ENST00000296526;ENST00000264426	T;T;T	0.21543	2.0;2.0;2.0	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.40839	0.1133	L	0.59436	1.845	0.80722	D	1	D;D	0.61080	0.982;0.989	D;P	0.65874	0.939;0.61	T	0.13791	-1.0496	10	0.66056	D	0.02	.	13.6695	0.62416	0.0741:0.0:0.9259:0.0	.	28;28	P42262;P42262-2	GRIA2_HUMAN;.	H	28	ENSP00000425217:Q28H;ENSP00000296526:Q28H;ENSP00000264426:Q28H	ENSP00000264426:Q28H	Q	+	3	2	GRIA2	158361728	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.093000	0.41710	2.580000	0.87095	0.484000	0.47621	CAG		0.358	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			63	215	0	0	0	0.00361	0	63	215					C	158142278	G	C	158142278	3	2	275	1	0	0	0	0	1	0	0	0	6768	933	33	4	86	4	GRIA2	4	158142278	Missense_Mutation	SNP	G	TCGA-EM-A1CW-01A-21D-A13W-08		158142278	33011998	5	5939											
LRP11	84918	broad.mit.edu	37	chr6	150174150	150174150	+	Frame_Shift_Del	DEL	C	C	-													atgcgttaccttcatgtccaCtgacgggtccccctgcagca							TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr6:150174150delC	ENST00000239367.2	-	2	765	c.760delG	c.(760-762)gtgfs	p.V254fs	LRP11_ENST00000367368.2_Frame_Shift_Del_p.V254fs|LRP11_ENST00000546019.1_De_novo_Start_OutOfFrame|RP11-350J20.12_ENST00000472053.2_RNA	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	254	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.					integral component of membrane (GO:0016021)				cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		TTCATGTCCACTGACGGGTCC	0.532																																						ENST00000546019.1																			0				cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8								low density lipoprotein receptor-related protein 11							89	80	83					6																	150174150		2203	4300	6503	SO:0001589	frameshift_variant	84918					integral to membrane	receptor activity	g.chr6:150174150delC	AK027641	CCDS5220.1	6q24.3	2013-02-27			ENSG00000120256	ENSG00000120256		"Low density lipoprotein receptors"	16936	protein-coding gene	gene with protein product							Standard	NM_032832		Approved	bA350J20.3, MANSC3	uc003qng.2	Q86VZ4	OTTHUMG00000015801	ENST00000239367.2:c.760delG	6.37:g.150174150delC	ENSP00000239367:p.Val254fs					LRP11_ENST00000239367.2_Frame_Shift_Del_p.V254fs|LRP11_ENST00000367368.2_Frame_Shift_Del_p.V254fs				Q86VZ4	LRP11_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)	0	325	-		Ovarian(120;0.0907)						Q5VYC0|Q96SN6	Translation_Start_Site	DEL	ENST00000239367.2	37		CCDS5220.1																																																																																				0.532	LRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042664.1	NM_032832		19	58						19	58	---	---	---	---	-	150174150	C	-	150174150	7	5	275	1	0	1	0	1	0	0	0	0	8953	565	20	0	766	0	LRP11	6	150174150	Frame_Shift_Del	DEL	C	TCGA-EM-A1CW-01A-21D-A13W-08		150174150	20940917	6	5940											
ALDOB	229	broad.mit.edu	37	chr9	104192048	104192048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgttcaccttgattcccaCcacgatccccttttccttga	6	15	1	2			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr9:104192048C>T	ENST00000374855.4	-	3	437	c.313G>A	c.(313-315)Gtg>Atg	p.V105M	ALDOB_ENST00000468981.3_Intron	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	105					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				TTGATTCCCACCACGATCCCC	0.522																																						ENST00000374855.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(313-315)Gtg>Atg		aldolase B, fructose-bisphosphate							286	255	265					9																	104192048		2203	4300	6503	SO:0001583	missense	229				fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding	g.chr9:104192048C>T	X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.313G>A	9.37:g.104192048C>T	ENSP00000363988:p.Val105Met					ALDOB_ENST00000468981.2_Intron	p.V105M	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN			3	437	-		Acute lymphoblastic leukemia(62;0.0559)	105					Q13741|Q13742|Q5T7D6	Missense_Mutation	SNP	ENST00000374855.4	37	c.313G>A	CCDS6756.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140285	0.77775	.	.	ENSG00000136872	ENST00000374855;ENST00000374853;ENST00000430164	D	0.86230	-2.09	5.94	3.99	0.46301	Aldolase-type TIM barrel (1);	0.057728	0.64402	D	0.000002	D	0.93416	0.7900	M	0.89601	3.045	0.80722	D	1	D	0.63880	0.993	P	0.59546	0.859	D	0.94568	0.7768	10	0.56958	D	0.05	-9.2858	15.5459	0.76101	0.0:0.7394:0.2606:0.0	.	105	P05062	ALDOB_HUMAN	M	105;32;105	ENSP00000363988:V105M	ENSP00000363986:V32M	V	-	1	0	ALDOB	103231869	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.011000	0.57124	1.512000	0.48834	0.650000	0.86243	GTG		0.522	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053434.2			93	254	0	0	0	0.00361	0	93	254					T	104192048	C	T	104192048	3	4	275	1	0	0	0	0	1	0	0	0	508	507	18	2	809	2	ALDOB	9	104192048	Missense_Mutation	SNP	C	TCGA-EM-A1CW-01A-21D-A13W-08		104192048	37021383	7	5941											
SNAPC4	6621	broad.mit.edu	37	chr9	139286500	139286500	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actcctgcttgttgatgctgGggtgctccgagttctgccag	13	11	1	1			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr9:139286500G>T	ENST00000298532.2	-	9	1237	c.869C>A	c.(868-870)cCc>cAc	p.P290H		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GTTGATGCTGGGGTGCTCCGA	0.627																																						ENST00000298532.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33						c.(868-870)cCc>cAc		small nuclear RNA activating complex, polypeptide 4, 190kDa							119	113	115					9																	139286500		2203	4300	6503	SO:0001583	missense	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139286500G>T	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"small nuclear RNA activating complex, polypeptide 4, 190kD"			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.869C>A	9.37:g.139286500G>T	ENSP00000298532:p.Pro290His						p.P290H	NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	9	1237	-		Myeloproliferative disorder(178;0.0511)	290			HTH myb-type 1.			Missense_Mutation	SNP	ENST00000298532.2	37	c.869C>A	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804426	0.90623	.	.	ENSG00000165684	ENST00000298532	T	0.31769	1.48	5.69	5.69	0.88448	Transcription regulator HTH, Myb-type, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.71134	0.3304	H	0.97131	3.945	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.81380	-0.0959	10	0.87932	D	0	-34.551	18.8043	0.92030	0.0:0.0:1.0:0.0	.	290	Q5SXM2	SNPC4_HUMAN	H	290	ENSP00000298532:P290H	ENSP00000298532:P290H	P	-	2	0	SNAPC4	138406321	1.000000	0.71417	0.961000	0.40146	0.847000	0.48162	8.656000	0.91102	2.681000	0.91329	0.655000	0.94253	CCC		0.627	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		5	138	1	0	0.00116845	0.001168	0.00182887	5	138					T	139286500	G	T	139286500	3	4	275	1	0	0	0	0	1	0	0	0	14837	1232	43	4	3596	4	SNAPC4	9	139286500	Missense_Mutation	SNP	G	TCGA-EM-A1CW-01A-21D-A13W-08	35094452	139286500	1926931	8	5942											
PLXDC2	84898	broad.mit.edu	37	chr10	20506361	20506361	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttttctcttactagtcaaaaGagaagatgtgtgagaataca	8	5	2	3			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr10:20506361G>C	ENST00000377252.4	+	11	1970	c.1129G>C	c.(1129-1131)Gag>Cag	p.E377Q	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Missense_Mutation_p.E328Q	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	377					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CTAGTCAAAAGAGAAGATGTG	0.418																																						ENST00000377252.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						c.(1129-1131)Gag>Cag		plexin domain containing 2							61	58	59					10																	20506361		2203	4300	6503	SO:0001583	missense	84898					integral to membrane		g.chr10:20506361G>C	AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"tumor endothelial marker 7-related precursor"	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.1129G>C	10.37:g.20506361G>C	ENSP00000366460:p.Glu377Gln					PLXDC2_ENST00000377242.3_Missense_Mutation_p.E328Q|PLXDC2_ENST00000377238.2_3'UTR	p.E377Q	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN			11	1970	+			377					Q96E59|Q96PD9|Q96SU9	Missense_Mutation	SNP	ENST00000377252.4	37	c.1129G>C	CCDS7132.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319730	0.23994	.	.	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000377238;ENST00000536022	T;T	0.76578	-1.03;-1.03	5.55	4.62	0.57501	.	0.091007	0.64402	D	0.000001	T	0.65015	0.2651	L	0.36672	1.1	0.33289	D	0.563271	P;B	0.37864	0.61;0.393	B;B	0.32864	0.154;0.099	T	0.71220	-0.4657	10	0.22109	T	0.4	.	13.1063	0.59249	0.0:0.0:0.8405:0.1595	.	328;377	Q6UX71-2;Q6UX71	.;PXDC2_HUMAN	Q	377;328;240;363	ENSP00000366460:E377Q;ENSP00000366450:E328Q	ENSP00000366446:E240Q	E	+	1	0	PLXDC2	20546367	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	4.686000	0.61700	2.634000	0.89283	0.563000	0.77884	GAG		0.418	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812		3	58	0	0	0	0.004672	0	3	58					C	20506361	G	C	20506361	3	2	275	1	0	0	0	0	1	0	0	0	12118	943	33	4	1171	4	PLXDC2	10	20506361	Missense_Mutation	SNP	G	TCGA-EM-A1CW-01A-21D-A13W-08		20506361	115028386	9	5943											
PARD3	56288	broad.mit.edu	37	chr10	34985316	34985316	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcctccatctccatgttccAagcgatgcacctgtatccag	6	15	1	0			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr10:34985316A>C	ENST00000374789.3	-	2	477	c.152T>G	c.(151-153)tTg>tGg	p.L51W	PARD3_ENST00000374788.3_Missense_Mutation_p.L51W|PARD3_ENST00000545260.1_Missense_Mutation_p.L51W|PARD3_ENST00000340077.5_Missense_Mutation_p.L51W|PARD3_ENST00000346874.4_Missense_Mutation_p.L51W|PARD3_ENST00000374794.3_Missense_Mutation_p.L51W|PARD3_ENST00000545693.1_Missense_Mutation_p.L51W|PARD3_ENST00000374773.1_Missense_Mutation_p.L51W|PARD3_ENST00000350537.4_Missense_Mutation_p.L51W|PARD3_ENST00000374790.3_Missense_Mutation_p.L51W|PARD3_ENST00000374776.1_Missense_Mutation_p.L51W	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	51					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TCCATGTTCCAAGCGATGCAC	0.413																																						ENST00000374789.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63						c.(151-153)tTg>tGg		par-3 family cell polarity regulator							306	259	275					10																	34985316		2203	4300	6503	SO:0001583	missense	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34985316A>C	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.152T>G	10.37:g.34985316A>C	ENSP00000363921:p.Leu51Trp					PARD3_ENST00000374773.1_Missense_Mutation_p.L51W|PARD3_ENST00000346874.4_Missense_Mutation_p.L51W|PARD3_ENST00000374790.3_Missense_Mutation_p.L51W|PARD3_ENST00000350537.4_Missense_Mutation_p.L51W|PARD3_ENST00000545693.1_Missense_Mutation_p.L51W|PARD3_ENST00000340077.5_Missense_Mutation_p.L51W|PARD3_ENST00000374776.1_Missense_Mutation_p.L51W|PARD3_ENST00000545260.1_Missense_Mutation_p.L51W|PARD3_ENST00000374788.3_Missense_Mutation_p.L51W|PARD3_ENST00000374794.3_Missense_Mutation_p.L51W	p.L51W	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN			2	477	-		Breast(68;0.0707)	51					F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.152T>G	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.636228	0.87760	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773	T;T;T;T;T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000001	T	0.79476	0.4452	M	0.79123	2.44	0.80722	D	1	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;0.999;0.999;0.999;1.0;1.0;1.0;0.999;1.0;1.0	T	0.82287	-0.0532	10	0.87932	D	0	.	14.8814	0.70537	1.0:0.0:0.0:0.0	.	51;51;51;51;51;51;51;51;51;51;51	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q8TEW0-8;Q8TEW0-9	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.	W	51	ENSP00000443147:L51W;ENSP00000440857:L51W;ENSP00000363921:L51W;ENSP00000363920:L51W;ENSP00000340591:L51W;ENSP00000363926:L51W;ENSP00000311986:L51W;ENSP00000363922:L51W;ENSP00000363908:L51W;ENSP00000341844:L51W;ENSP00000363905:L51W	ENSP00000341844:L51W	L	-	2	0	PARD3	35025322	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	8.775000	0.91772	2.155000	0.67459	0.528000	0.53228	TTG		0.413	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		38	239	0	0	0	0.004878	0	38	239					C	34985316	A	C	34985316	3	2	275	1	0	0	0	0	1	0	0	0	11443	131	5	5	4049	5	PARD3	10	34985316	Missense_Mutation	SNP	A	TCGA-EM-A1CW-01A-21D-A13W-08	14478955	34985316	100549431	10	5944											
SPI1	6688	broad.mit.edu	37	chr11	47380480	47380480	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggggggctctgccgctcGccctcctcctcatctgagct	12	16	3	1	rs569009172		TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr11:47380480G>A	ENST00000378538.3	-	4	630	c.408C>T	c.(406-408)ggC>ggT	p.G136G	SPI1_ENST00000227163.4_Silent_p.G137G|SPI1_ENST00000533968.1_Silent_p.G136G|SPI1_ENST00000533030.1_Intron	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN	Spi-1 proto-oncogene	136					anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|histone H3 acetylation (GO:0043966)|hypermethylation of CpG island (GO:0044027)|lymphocyte differentiation (GO:0030098)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of MHC class II biosynthetic process (GO:0045347)|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)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of erythrocyte differentiation (GO:0045646)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somatic stem cell maintenance (GO:0035019)	nuclear chromatin (GO:0000790)	core promoter binding (GO:0001047)|NFAT protein binding (GO:0051525)|RNA binding (GO:0003723)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		TCTGCCGCTCGCCCTCCTCCT	0.706													G|||	1	0.000199681	0	0	5008	,	,		14242	0.001		0	False		,,,				2504	0					ENST00000378538.3																			0				central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8						c.(406-408)ggC>ggT		spleen focus forming virus (SFFV) proviral integration oncogene							16	16	16					11																	47380480		2194	4291	6485	SO:0001819	synonymous_variant	6688				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:47380480G>A	X52056	CCDS7933.2, CCDS44591.1	11p12-p11.22	2014-06-25	2014-06-25		ENSG00000066336	ENSG00000066336			11241	protein-coding gene	gene with protein product	"hematopoietic transcription factor PU.1", "31 kDa transforming protein"	165170	"spleen focus forming virus (SFFV) proviral integration oncogene"			1693183	Standard	NM_003120		Approved	PU.1, SPI-A, OF, SFPI1, SPI-1	uc001nfb.1	P17947	OTTHUMG00000150150	ENST00000378538.3:c.408C>T	11.37:g.47380480G>A						SPI1_ENST00000227163.4_Silent_p.G137G|SPI1_ENST00000533968.1_Silent_p.G136G|SPI1_ENST00000533030.1_Intron	p.G136G	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN		Lung(87;0.0967)	4	630	-			136						Silent	SNP	ENST00000378538.3	37	c.408C>T	CCDS7933.2																																																																																				0.706	SPI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316571.1	NM_003120		3	1	0	0	0	0.004672	0	3	1					A	47380480	G	A	47380480	2	1	275	1	0	0	0	0	0	0	0	1	15048	1074	38	1		1	SPI1	11	47380480	Silent	SNP	G	TCGA-EM-A1CW-01A-21D-A13W-08		47380480	87626036	11	5945											
AHNAK	79026	broad.mit.edu	37	chr11	62287957	62287957	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttaggtgccagtctgggccTtgaacgtccacatctgggac	12	11	2	1			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr11:62287957T>C	ENST00000378024.4	-	5	14206	c.13932A>G	c.(13930-13932)caA>caG	p.Q4644Q	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4644				Q -> H (in Ref. 4; AAA69898). {ECO:0000305}.	protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGTCTGGGCCTTGAACGTCCA	0.537																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(13930-13932)caA>caG		AHNAK nucleoprotein							180	184	182					11																	62287957		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62287957T>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.13932A>G	11.37:g.62287957T>C						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.Q4644Q	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	14206	-		Melanoma(852;0.155)	4644	Q -> H (in Ref. 2; AAA69898).				A1A586	Silent	SNP	ENST00000378024.4	37	c.13932A>G	CCDS31584.1																																																																																				0.537	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		5	306	0	0	0	0.001168	0	5	306					C	62287957	T	C	62287957	2	2	275	1	0	0	0	0	0	0	0	1	414	1606	56	3		3	AHNAK	11	62287957	Silent	SNP	T	TCGA-EM-A1CW-01A-21D-A13W-08	14907477	62287957	72718559	12	5946											
ATG16L2	89849	broad.mit.edu	37	chr11	72537766	72537766	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggagacactgtctggacacAaggataaggtgacagctgcc	13	9	1	2			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr11:72537766A>G	ENST00000321297.5	+	13	1402	c.1264A>G	c.(1264-1266)Aag>Gag	p.K422E	ATG16L2_ENST00000534905.1_Intron	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	422					autophagy (GO:0006914)|negative stranded viral RNA replication (GO:0039689)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			GTCTGGACACAAGGATAAGGT	0.587																																						ENST00000321297.5																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14						c.(1264-1266)Aag>Gag		autophagy related 16-like 2 (S. cerevisiae)							82	90	87					11																	72537766		2200	4293	6493	SO:0001583	missense	89849				autophagy|protein transport	cytoplasm	protein binding	g.chr11:72537766A>G	AK024423	CCDS31634.1	11q13.4	2014-02-12	2012-06-06		ENSG00000168010	ENSG00000168010		"WD repeat domain containing"	25464	protein-coding gene	gene with protein product			"ATG16 autophagy related 16-like 2 (S. cerevisiae)"			11214971	Standard	XM_005274378		Approved	FLJ00012, WDR80, ATG16B	uc001otd.3	Q8NAA4	OTTHUMG00000167961	ENST00000321297.5:c.1264A>G	11.37:g.72537766A>G	ENSP00000326340:p.Lys422Glu					ATG16L2_ENST00000534905.1_Intron	p.K422E	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.73e-06)		13	1402	+			422					A5PL30|B2RPK5|Q658V4|Q6PID3|Q8NBG0	Missense_Mutation	SNP	ENST00000321297.5	37	c.1264A>G	CCDS31634.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.11|15.11	2.736787|2.736787	0.49045|0.49045	.|.	.|.	ENSG00000168010|ENSG00000168010	ENST00000321297;ENST00000538973;ENST00000541367|ENST00000535830;ENST00000540222	T;T;T|.	0.56941|.	0.43;0.43;0.43|.	5.63|5.63	4.49|4.49	0.54785|0.54785	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.779066|.	0.12102|.	N|.	0.499430|.	T|T	0.43188|0.43188	0.1236|0.1236	N|N	0.21240|0.21240	0.645|0.645	0.80722|0.80722	D|D	1|1	B;B|.	0.22211|.	0.066;0.02|.	B;B|.	0.28465|.	0.05;0.09|.	T|T	0.23404|0.23404	-1.0189|-1.0189	10|5	0.28530|.	T|.	0.3|.	.|.	10.6003|10.6003	0.45362|0.45362	0.8559:0.0:0.0:0.1441|0.8559:0.0:0.0:0.1441	.|.	316;422|.	Q8NAA4-2;Q8NAA4|.	.;A16L2_HUMAN|.	E|R	422;253;253|259;199	ENSP00000326340:K422E;ENSP00000441989:K253E;ENSP00000437412:K253E|.	ENSP00000326340:K422E|.	K|Q	+|+	1|2	0|0	ATG16L2|ATG16L2	72215414|72215414	0.987000|0.987000	0.35691|0.35691	0.999000|0.999000	0.59377|0.59377	0.639000|0.639000	0.38242|0.38242	2.335000|2.335000	0.43929|0.43929	1.051000|1.051000	0.40369|0.40369	0.459000|0.459000	0.35465|0.35465	AAG|CAA		0.587	ATG16L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397305.1	NM_033388		3	136	0	0	0	0.004672	0	3	136					G	72537766	A	G	72537766	3	3	275	1	0	0	0	0	1	0	0	0	1092	131	5	3	1314	3	ATG16L2	11	72537766	Missense_Mutation	SNP	A	TCGA-EM-A1CW-01A-21D-A13W-08	10249809	72537766	62468750	13	5947											
FNTB	2342	broad.mit.edu	37	chr14	65453792	65453793	+	Frame_Shift_Ins	INS	-	-	A													gttgcaggacgactcggtggINSaaacagtcacgtccatagaa							TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr14:65453792_65453793insA	ENST00000246166.2	+	1	355_356	c.121_122insA	c.(121-123)gaafs	p.E41fs	CHURC1-FNTB_ENST00000549987.1_Intron|FNTB_ENST00000542227.1_Intron|FNTB_ENST00000447296.2_Intron	NM_002028.3	NP_002019.1	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	41					negative regulation of cell proliferation (GO:0008285)|phototransduction, visible light (GO:0007603)|positive regulation of cell cycle (GO:0045787)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|protein farnesylation (GO:0018343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to cytokine (GO:0034097)|response to inorganic substance (GO:0010035)|response to organic cyclic compound (GO:0014070)|rhodopsin mediated signaling pathway (GO:0016056)|wound healing (GO:0042060)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	farnesyltranstransferase activity (GO:0004311)|protein farnesyltransferase activity (GO:0004660)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CGACTCGGTGGAAACAGTCACG	0.653																																						ENST00000246166.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(121-123)aacfs		farnesyltransferase, CAAX box, beta																																				SO:0001589	frameshift_variant	2342							g.chr14:65453792_65453793insA		CCDS9769.1	14q23.3	2011-09-28			ENSG00000257365	ENSG00000257365			3785	protein-coding gene	gene with protein product		134636				8276393	Standard	NM_002028		Approved	FPTB		P49356	OTTHUMG00000142811	ENST00000246166.2:c.124dupA	14.37:g.65453795_65453795dupA	ENSP00000246166:p.Glu41fs					CHURC1-FNTB_ENST00000542227.1_Intron|CHURC1-FNTB_ENST00000447296.2_Intron	p.N41fs	NM_002028.3	NP_002019.1				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)	1	355_356	+								B2RDX6|B4E1A0	Frame_Shift_Ins	INS	ENST00000246166.2	37	c.121_122insA	CCDS9769.1																																																																																				0.653	FNTB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000286392.1	NM_002028		17	32						17	32	---	---	---	---	A	65453793	-	A	65453792	7	5	275	1	0	1	1	0	0	0	0	0	5978	1175	41	0	123	0	FNTB	14	65453792	Frame_Shift_Ins	INS	-	TCGA-EM-A1CW-01A-21D-A13W-08		65453792	41895748	14	5948											
NF1	4763	broad.mit.edu	37	chr17	29508804	29508804	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccacagactgatatggctgGtaaggatacgattgattttt	10	7	0	3			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr17:29508804G>T	ENST00000358273.4	+	7	1113		c.e7+1		NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000431387.4_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GATATGGCTGGTAAGGATACG	0.313			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.e7+1		neurofibromin 1							55	56	56					17																	29508804		2203	4290	6493	SO:0001630	splice_region_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29508804G>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.730+1G>T	17.37:g.29508804G>T		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000431387.4_Splice_Site|NF1_ENST00000356175.3_Splice_Site		NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	7	1113	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)						O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	SNP	ENST00000358273.4	37		CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.786887	0.90367	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2867	0.94077	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF1	26532930	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.858000	0.92256	2.793000	0.96121	0.655000	0.94253	.		0.313	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	Intron	19	67	1	0	6.94344e-10	0.006122	1.3156e-09	19	67					T	29508804	G	T	29508804	5	4	275	1	0	0	0	0	0	0	1	0	10356	1275	44	4	757	4	NF1	17	29508804	Splice_Site	SNP	G	TCGA-EM-A1CW-01A-21D-A13W-08		29508804	51686406	15	5949											
ZNF556	80032	broad.mit.edu	37	chr19	2877358	2877358	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagactcgaaattgtaatcgTcatctgcgcaagaattgttg	9	7	2	2			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr19:2877358T>C	ENST00000307635.2	+	4	489	c.402T>C	c.(400-402)cgT>cgC	p.R134R	ZNF556_ENST00000586426.1_Silent_p.R133R	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	134					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(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		ATTGTAATCGTCATCTGCGCA	0.418																																						ENST00000586426.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31						c.(397-399)cgT>cgC		zinc finger protein 556							128	110	116					19																	2877358		2203	4300	6503	SO:0001819	synonymous_variant	80032				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2877358T>C	BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"Zinc fingers, C2H2-type", "-"	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.402T>C	19.37:g.2877358T>C						ZNF556_ENST00000307635.2_Silent_p.R134R	p.R133R			Q9HAH1	ZN556_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)	4	486	+			134					Q96GM3	Silent	SNP	ENST00000307635.2	37	c.399T>C	CCDS12097.1																																																																																				0.418	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967		4	106	0	0	0	0.001168	0	4	106					C	2877358	T	C	2877358	2	2	275	1	0	0	0	0	0	0	0	1	17984	1654	58	3		3	ZNF556	19	2877358	Silent	SNP	T	TCGA-EM-A1CW-01A-21D-A13W-08		2877358	56251625	16	5950											
DYRK1B	9149	broad.mit.edu	37	chr19	40316404	40316404	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccacggaggcccaggtgaGgccccagagtggcagggtca	16	13	1	2			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr19:40316404G>A	ENST00000593685.1	-	11	2309	c.1841C>T	c.(1840-1842)cCt>cTt	p.P614L	DYRK1B_ENST00000348817.3_Missense_Mutation_p.P586L|DYRK1B_ENST00000597639.1_Missense_Mutation_p.P586L|DYRK1B_ENST00000323039.5_Missense_Mutation_p.P614L|DYRK1B_ENST00000430012.2_Missense_Mutation_p.P574L			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	614					adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GCCCAGGTGAGGCCCCAGAGT	0.711																																						ENST00000593685.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1840-1842)cCt>cTt		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B							5	7	6					19																	40316404		2104	4131	6235	SO:0001583	missense	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40316404G>A	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"minibrain-related kinase"	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.1841C>T	19.37:g.40316404G>A	ENSP00000469863:p.Pro614Leu					DYRK1B_ENST00000597639.1_Missense_Mutation_p.P586L|DYRK1B_ENST00000430012.2_Missense_Mutation_p.P574L|DYRK1B_ENST00000348817.3_Missense_Mutation_p.P586L|DYRK1B_ENST00000323039.5_Missense_Mutation_p.P614L	p.P614L			Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		11	2309	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		614					O75258|O75788|O75789	Missense_Mutation	SNP	ENST00000593685.1	37	c.1841C>T	CCDS12543.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.863837	0.51482	.	.	ENSG00000105204	ENST00000323039;ENST00000348817;ENST00000430012	T;T;T	0.61040	0.14;0.33;0.43	5.01	5.01	0.66863	.	0.148147	0.46758	D	0.000274	T	0.41880	0.1178	N	0.14661	0.345	0.58432	D	0.999995	P;B;P	0.36909	0.573;0.437;0.573	B;B;B	0.35278	0.199;0.098;0.199	T	0.45175	-0.9279	10	0.44086	T	0.13	.	15.8112	0.78565	0.0:0.0:1.0:0.0	.	574;614;586	Q9Y463-2;Q9Y463;Q9Y463-3	.;DYR1B_HUMAN;.	L	614;586;574	ENSP00000312789:P614L;ENSP00000221803:P586L;ENSP00000403182:P574L	ENSP00000312789:P614L	P	-	2	0	DYRK1B	45008244	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.858000	0.55979	2.312000	0.78011	0.462000	0.41574	CCT		0.711	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		2	0	0	0	0	0.004672	0	2	0					A	40316404	G	A	40316404	3	1	275	1	0	0	0	0	1	0	0	0	4855	1000	35	2	52	2	DYRK1B	19	40316404	Missense_Mutation	SNP	G	TCGA-EM-A1CW-01A-21D-A13W-08	37439046	40316404	18812579	17	5951											
ZNF211	10520	broad.mit.edu	37	chr19	58152577	58152577	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtaaagcctttagccacatAgacacacttgttcaggacca	7	11	1	1			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr19:58152577A>G	ENST00000347302.3	+	3	902	c.723A>G	c.(721-723)atA>atG	p.I241M	ZNF211_ENST00000254182.7_Missense_Mutation_p.I232M|ZNF211_ENST00000544273.1_Missense_Mutation_p.I253M|ZNF211_ENST00000541801.1_Missense_Mutation_p.I232M|ZNF211_ENST00000420680.1_Missense_Mutation_p.I245M|ZNF211_ENST00000240731.4_Missense_Mutation_p.I254M|ZNF211_ENST00000391703.3_Missense_Mutation_p.I180M|ZNF211_ENST00000299871.5_Missense_Mutation_p.I306M	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	241					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(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTAGCCACATAGACACACTTG	0.448																																						ENST00000544273.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(757-759)atA>atG		zinc finger protein 211							92	93	93					19																	58152577		2203	4300	6503	SO:0001583	missense	0					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58152577A>G	U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"Zinc fingers, C2H2-type", "-"	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.723A>G	19.37:g.58152577A>G	ENSP00000339562:p.Ile241Met					ZNF211_ENST00000391703.3_Missense_Mutation_p.I180M|ZNF211_ENST00000347302.3_Missense_Mutation_p.I241M|ZNF211_ENST00000541801.1_Missense_Mutation_p.I232M|ZNF211_ENST00000299871.5_Missense_Mutation_p.I306M|ZNF211_ENST00000420680.1_Missense_Mutation_p.I245M|ZNF211_ENST00000240731.4_Missense_Mutation_p.I254M|ZNF211_ENST00000254182.7_Missense_Mutation_p.I232M	p.I253M			Q13398	ZN211_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1086	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	241					B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	ENST00000347302.3	37	c.759A>G	CCDS12957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.92|12.92	2.083064|2.083064	0.36758|0.36758	.|.	.|.	ENSG00000121417|ENSG00000121417	ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731|ENST00000407202	T;T;T;T;T;T;T;T|.	0.15372|.	2.43;2.43;2.43;2.43;2.43;2.43;2.43;2.43|.	3.65|3.65	-6.8|-6.8	0.01709|0.01709	.|.	.|.	.|.	.|.	.|.	T|T	0.16171|0.16171	0.0389|0.0389	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B;B;B;B;B|.	0.33512|.	0.004;0.002;0.415;0.032;0.001;0.001|.	B;B;B;B;B;B|.	0.34301|.	0.004;0.002;0.179;0.004;0.002;0.002|.	T|T	0.22591|0.22591	-1.0212|-1.0212	9|5	0.46703|.	T|.	0.11|.	.|.	2.4299|2.4299	0.04469|0.04469	0.2485:0.3431:0.2951:0.1133|0.2485:0.3431:0.2951:0.1133	.|.	245;253;306;232;241;254|.	Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1|.	.;.;.;.;ZN211_HUMAN;.|.	M|G	245;241;232;180;232;306;253;254|245	ENSP00000399193:I245M;ENSP00000339562:I241M;ENSP00000254182:I232M;ENSP00000375584:I180M;ENSP00000442601:I232M;ENSP00000299871:I306M;ENSP00000441386:I253M;ENSP00000240731:I254M|.	ENSP00000240731:I254M|.	I|R	+|+	3|1	3|2	ZNF211|ZNF211	62844389|62844389	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.419000|0.419000	0.31324|0.31324	0.014000|0.014000	0.13333|0.13333	-1.595000|-1.595000	0.01613|0.01613	0.482000|0.482000	0.46254|0.46254	ATA|AGA		0.448	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1			3	163	0	0	0	0.004672	0	3	163					G	58152577	A	G	58152577	3	3	275	1	0	0	0	0	1	0	0	0	17764	410	15	3	776	3	ZNF211	19	58152577	Missense_Mutation	SNP	A	TCGA-EM-A1CW-01A-21D-A13W-08	17836173	58152577	976406	18	5952											
RASSF2	9770	broad.mit.edu	37	chr20	4768882	4768882	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccactcgtatggaccacGtacaaggcaaactcctctgc	7	16	1	0	rs559942126		TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr20:4768882G>A	ENST00000379400.3	-	9	867	c.672C>T	c.(670-672)taC>taT	p.Y224Y	RASSF2_ENST00000379376.2_Silent_p.Y224Y|RASSF2_ENST00000478553.1_5'UTR	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	224	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						TATGGACCACGTACAAGGCAA	0.383													G|||	1	0.000199681	0	0	5008	,	,		20725	0		0	False		,,,				2504	0.001				Melanoma(158;1891 3343 50738)	ENST00000379400.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						c.(670-672)taC>taT		Ras association (RalGDS/AF-6) domain family member 2							128	127	128					20																	4768882		2203	4300	6503	SO:0001819	synonymous_variant	9770				cell cycle|signal transduction	nucleus	protein binding	g.chr20:4768882G>A	D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"centromere protein 34"	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.672C>T	20.37:g.4768882G>A						RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Silent_p.Y224Y	p.Y224Y	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN			9	867	-			224			Ras-associating.		A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Silent	SNP	ENST00000379400.3	37	c.672C>T	CCDS13083.1																																																																																				0.383	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	NM_014737		4	132	0	0	0	0.000602	0	4	132					A	4768882	G	A	4768882	2	1	275	1	0	0	0	0	0	0	0	1	13086	1140	40	1		1	RASSF2	20	4768882	Silent	SNP	G	TCGA-EM-A1CW-01A-21D-A13W-08		4768882	58256638	19	5953											
FAM47A	158724	broad.mit.edu	37	chrX	34148199	34148199	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaaggcaattggtccataaaGatcgtcaagaacgtcaggtt	10	7	2	2			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chrX:34148199G>T	ENST00000346193.3	-	1	2248	c.2197C>A	c.(2197-2199)Ctt>Att	p.L733I		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	733										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGTCCATAAAGATCGTCAAGA	0.428																																						ENST00000346193.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(2197-2199)Ctt>Att		family with sequence similarity 47, member A							133	128	129					X																	34148199		2202	4300	6502	SO:0001583	missense	158724							g.chrX:34148199G>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.2197C>A	X.37:g.34148199G>T	ENSP00000345029:p.Leu733Ile						p.L733I	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	2248	-			733					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.2197C>A	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.871650	0.33069	.	.	ENSG00000185448	ENST00000346193	T	0.20463	2.07	1.17	1.17	0.20885	.	.	.	.	.	T	0.41166	0.1147	M	0.77616	2.38	0.09310	N	0.999999	D	0.67145	0.996	D	0.79108	0.992	T	0.10086	-1.0645	9	0.87932	D	0	.	5.3637	0.16101	0.0:0.0:1.0:0.0	.	733	Q5JRC9	FA47A_HUMAN	I	733	ENSP00000345029:L733I	ENSP00000345029:L733I	L	-	1	0	FAM47A	34058120	0.577000	0.26708	0.343000	0.25615	0.038000	0.13279	1.022000	0.30052	0.880000	0.35969	0.544000	0.68410	CTT		0.428	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		5	250	1	0	0.00116845	0.001168	0.00182887	5	250					T	34148199	G	T	34148199	3	4	275	1	0	0	0	0	1	0	0	0	5569	942	33	4	182	4	FAM47A	23	34148199	Missense_Mutation	SNP	G	TCGA-EM-A1CW-01A-21D-A13W-08		34148199	121122361	20	5954											
SPRED2	200734	broad.mit.edu	37	chr2	65540763	65540763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaataagagccatccaccGgaggcaaaacttctcgtcgc	10	13	1	1			TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chr2:65540763G>A	ENST00000356388.4	-	6	1318	c.1129C>T	c.(1129-1131)Cgg>Tgg	p.R377W	SPRED2_ENST00000443619.2_Missense_Mutation_p.R374W	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	377	SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						GCCATCCACCGGAGGCAAAAC	0.577																																						ENST00000356388.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						c.(1129-1131)Cgg>Tgg		sprouty-related, EVH1 domain containing 2							80	81	81					2																	65540763		2203	4300	6503	SO:0001583	missense	200734				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding	g.chr2:65540763G>A	AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.1129C>T	2.37:g.65540763G>A	ENSP00000348753:p.Arg377Trp					SPRED2_ENST00000443619.2_Missense_Mutation_p.R374W	p.R377W	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN			6	1318	-			377			SPR.		A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Missense_Mutation	SNP	ENST00000356388.4	37	c.1129C>T	CCDS33211.1	.	.	.	.	.	.	.	.	.	.	G	31	5.078954	0.94050	.	.	ENSG00000198369	ENST00000356388;ENST00000443619;ENST00000452315	T;T;T	0.75367	-0.93;-0.93;-0.93	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.90359	0.6983	M	0.93283	3.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92338	0.5879	10	0.87932	D	0	-9.5809	19.6373	0.95740	0.0:0.0:1.0:0.0	.	374;377	E9PEP0;Q7Z698	.;SPRE2_HUMAN	W	377;374;392	ENSP00000348753:R377W;ENSP00000393697:R374W;ENSP00000390595:R392W	ENSP00000348753:R377W	R	-	1	2	SPRED2	65394267	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.005000	0.88553	2.636000	0.89361	0.655000	0.94253	CGG		0.577	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1			3	34	0	0	0	0.115264	0	3	34					A	65540763	G	A	65540763	3	1	276	1	0	0	0	0	1	0	0	0	15092	1115	39	1	131	1	SPRED2	2	65540763	Missense_Mutation	SNP	G	TCGA-EM-A1YA-01A-11D-A14W-08		65540763	177658610	1	5955											
RGPD5	727851	broad.mit.edu	37	chr2	113174792	113174792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttccagtaattctctattttCctgcacatctctagtggaaa	5	10	2	0			TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chr2:113174792C>T	ENST00000302558.3	-	6	951	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K	RGPD8_ENST00000409750.1_Intron|RGPD8_ENST00000330575.5_Missense_Mutation_p.E254K	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	254					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						TCTCTATTTTCCTGCACATCT	0.388																																						ENST00000302558.3																			0				endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(760-762)Gaa>Aaa		RANBP2-like and GRIP domain containing 8							19	26	25					2																	113174792		100	607	707	SO:0001583	missense	727851							g.chr2:113174792C>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.760G>A	2.37:g.113174792C>T	ENSP00000306637:p.Glu254Lys					RGPD8_ENST00000409750.1_Intron|RGPD8_ENST00000330575.5_Missense_Mutation_p.E254K	p.E254K	NM_001164463.1	NP_001157935.1					6	951	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.760G>A	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.480363	0.26598	.	.	ENSG00000169629	ENST00000302558;ENST00000330575	T;T	0.29655	1.56;1.56	2.48	2.48	0.30137	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.20941	0.0504	L	0.35723	1.085	0.28413	N	0.918086	B;B	0.30727	0.292;0.008	B;B	0.28991	0.097;0.002	T	0.13098	-1.0522	9	0.37606	T	0.19	-19.7503	5.2907	0.15725	0.0:0.8312:0.0:0.1688	.	254;254	F8W705;O14715	.;RGPD8_HUMAN	K	254	ENSP00000306637:E254K;ENSP00000327486:E254K	ENSP00000306637:E254K	E	-	1	0	RGPD8	112891263	0.997000	0.39634	0.795000	0.32087	0.400000	0.30750	2.399000	0.44495	1.388000	0.46506	0.398000	0.26397	GAA		0.388	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		56	102	0	0	0	0.139131	0	56	102					T	113174792	C	T	113174792	3	4	276	1	0	0	0	0	1	0	0	0	13289	864	30	2	15623	2	RGPD5	2	113174792	Missense_Mutation	SNP	C	TCGA-EM-A1YA-01A-11D-A14W-08	47634029	113174792	130024581	2	5956											
ALPK1	80216	broad.mit.edu	37	chr4	113362205	113362205	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttaataaccagcatgtggAatgtaatgaaatctgccatc	7	8	1	1			TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chr4:113362205A>G	ENST00000458497.1	+	15	3950	c.3671A>G	c.(3670-3672)gAa>gGa	p.E1224G	ALPK1_ENST00000504176.2_Missense_Mutation_p.E1146G|ALPK1_ENST00000177648.9_Missense_Mutation_p.E1224G	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1224	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CAGCATGTGGAATGTAATGAA	0.383																																						ENST00000458497.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53						c.(3670-3672)gAa>gGa		alpha-kinase 1							182	184	183					4																	113362205		2203	4300	6503	SO:0001583	missense	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113362205A>G	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"lymphocyte alpha-kinase"	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.3671A>G	4.37:g.113362205A>G	ENSP00000398048:p.Glu1224Gly					ALPK1_ENST00000504176.2_Missense_Mutation_p.E1146G|ALPK1_ENST00000177648.9_Missense_Mutation_p.E1224G	p.E1224G	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	15	3950	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	1224			Alpha-type protein kinase.		B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	c.3671A>G	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	A	15.73	2.920889	0.52653	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.15256	2.44;2.44;2.44	5.83	1.92	0.25849	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.686003	0.14605	N	0.309400	T	0.28400	0.0702	M	0.78637	2.42	0.09310	N	1	P;P;P	0.44946	0.673;0.846;0.72	B;P;B	0.48982	0.225;0.597;0.334	T	0.10200	-1.0640	10	0.87932	D	0	-0.2364	7.7197	0.28725	0.6668:0.264:0.0692:0.0	.	1146;1146;1224	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	G	1224;1224;1146	ENSP00000398048:E1224G;ENSP00000177648:E1224G;ENSP00000426044:E1146G	ENSP00000177648:E1224G	E	+	2	0	ALPK1	113581654	0.648000	0.27313	0.008000	0.14137	0.954000	0.61252	3.515000	0.53429	0.107000	0.17824	0.528000	0.53228	GAA		0.383	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		56	121	0	0	0	0.139131	0	56	121					G	113362205	A	G	113362205	3	3	276	1	0	0	0	0	1	0	0	0	544	246	9	3	3721	3	ALPK1	4	113362205	Missense_Mutation	SNP	A	TCGA-EM-A1YA-01A-11D-A14W-08		113362205	77792071	3	5957											
ENPP1	5167	broad.mit.edu	37	chr6	132171195	132171195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgctgtgatgctgcctgtGttgagcttggaaactgctgt	14	8	0	2			TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chr6:132171195G>A	ENST00000360971.2	+	3	399	c.379G>A	c.(379-381)Gtt>Att	p.V127I		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	127	SMB 1. {ECO:0000255|PROSITE- ProRule:PRU00350}.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TGCTGCCTGTGTTGAGCTTGG	0.413																																					Colon(104;336 1535 5856 11019 33782)	ENST00000360971.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46						c.(379-381)Gtt>Att		ectonucleotide pyrophosphatase/phosphodiesterase 1	Amifostine(DB01143)|Ribavirin(DB00811)						164	150	155					6																	132171195		2203	4300	6503	SO:0001583	missense	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132171195G>A	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.379G>A	6.37:g.132171195G>A	ENSP00000354238:p.Val127Ile						p.V127I	NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	3	399	+	Breast(56;0.0505)		127			SMB 1.		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	ENST00000360971.2	37	c.379G>A	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	G	19.36	3.811795	0.70797	.	.	ENSG00000197594	ENST00000360971	T	0.46451	0.87	5.53	5.53	0.82687	Somatomedin B domain (4);Somatomedin B, chordata (1);	0.080923	0.49305	D	0.000158	T	0.44808	0.1311	M	0.73962	2.25	0.44261	D	0.997119	P	0.41188	0.741	P	0.45712	0.491	T	0.41088	-0.9528	10	0.45353	T	0.12	-13.6905	18.5932	0.91222	0.0:0.0:1.0:0.0	.	127	P22413	ENPP1_HUMAN	I	127	ENSP00000354238:V127I	ENSP00000354238:V127I	V	+	1	0	ENPP1	132212888	0.986000	0.35501	0.158000	0.22627	0.537000	0.34900	6.338000	0.72963	2.759000	0.94783	0.650000	0.86243	GTT		0.413	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			9	89	0	0	0	0.069234	0	9	89					A	132171195	G	A	132171195	3	1	276	1	0	0	0	0	1	0	0	0	5129	1377	48	2	389	2	ENPP1	6	132171195	Missense_Mutation	SNP	G	TCGA-EM-A1YA-01A-11D-A14W-08		132171195	38943872	4	5958											
SLC10A5	347051	broad.mit.edu	37	chr8	82606560	82606560	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agatagcccccaccccctccTgggcacgtgcaggtcattac	9	17	1	1			TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chr8:82606560T>A	ENST00000518568.1	-	1	1849	c.648A>T	c.(646-648)ccA>ccT	p.P216P		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	216						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						CACCCCCTCCTGGGCACGTGC	0.468																																						ENST00000518568.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						c.(646-648)ccA>ccT		solute carrier family 10, member 5							96	102	100					8																	82606560		2203	4300	6503	SO:0001819	synonymous_variant	347051					integral to membrane	bile acid:sodium symporter activity	g.chr8:82606560T>A		CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"Solute carriers"	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.648A>T	8.37:g.82606560T>A							p.P216P	NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN			1	1849	-			216					B2RN26	Silent	SNP	ENST00000518568.1	37	c.648A>T	CCDS34915.1																																																																																				0.468	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	XM_294493		42	73	0	0	0	0.104719	0	42	73					A	82606560	T	A	82606560	2	1	276	1	0	0	0	0	0	0	0	1	14377	1567	55	5		5	SLC10A5	8	82606560	Silent	SNP	T	TCGA-EM-A1YA-01A-11D-A14W-08		82606560	63757462	5	5959											
IARS	3376	broad.mit.edu	37	chr9	95050407	95050407	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aagctggatactcaaacataCcacaggtaagccatggcaat	8	10	1	0			TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chr9:95050407C>G	ENST00000375643.3	-	3	543		c.e3+1		IARS_ENST00000443024.2_Splice_Site|IARS_ENST00000447699.2_Intron|IARS_ENST00000375629.3_Splice_Site	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase						gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CTCAAACATACCACAGGTAAG	0.348																																						ENST00000375643.3																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35						c.e3+1		isoleucyl-tRNA synthetase	L-Isoleucine(DB00167)						94	84	88					9																	95050407		2203	4300	6503	SO:0001630	splice_region_variant	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95050407C>G	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	5330	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 1, cytoplasmic"	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.276+1G>C	9.37:g.95050407C>G						IARS_ENST00000443024.2_Splice_Site|IARS_ENST00000447699.2_Intron|IARS_ENST00000375629.3_Splice_Site		NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN			3	543	-								A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Splice_Site	SNP	ENST00000375643.3	37		CCDS6694.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.898136	0.91962	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000375660;ENST00000395554	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2585	0.98435	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IARS	94090228	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.039000	0.70972	2.894000	0.99253	0.655000	0.94253	.		0.348	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161	Intron	3	54	0	0	0	0.115264	0	3	54					G	95050407	C	G	95050407	5	3	276	1	0	0	0	0	0	0	1	0	7473	521	18	4	3639	4	IARS	9	95050407	Splice_Site	SNP	C	TCGA-EM-A1YA-01A-11D-A14W-08		95050407	46163024	6	5960											
IGSF22	283284	broad.mit.edu	37	chr11	18731052	18731052	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcgatgagtcctcccactgtGtagcaggtgcctgagatggg	14	10	0	2			TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chr11:18731052G>C	ENST00000513874.1	-	18	3019	c.2880C>G	c.(2878-2880)taC>taG	p.Y960*	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	859										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CTCCCACTGTGTAGCAGGTGC	0.567																																						ENST00000513874.1																			0				NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.(2878-2880)taC>taG		immunoglobulin superfamily, member 22							108	113	111					11																	18731052		1965	4146	6111	SO:0001587	stop_gained	283284							g.chr11:18731052G>C	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.2880C>G	11.37:g.18731052G>C	ENSP00000421191:p.Tyr960*					RP11-1081L13.4_ENST00000527285.1_RNA	p.Y960*	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN			18	3019	-			859					A6NNA0|D6RGV7	Nonsense_Mutation	SNP	ENST00000513874.1	37	c.2880C>G	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	G	41	8.791677	0.98956	.	.	ENSG00000179057	ENST00000513874	.	.	.	4.32	4.32	0.51571	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7485	0.69508	0.0:0.0:1.0:0.0	.	.	.	.	X	960	.	ENSP00000322422:Y859X	Y	-	3	2	IGSF22	18687628	1.000000	0.71417	0.953000	0.39169	0.970000	0.65996	2.196000	0.42686	2.243000	0.73865	0.655000	0.94253	TAC		0.567	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		4	102	0	0	0	0.150653	0	4	102					C	18731052	G	C	18731052	4	2	276	1	0	0	0	0	0	1	0	0	7600	1372	48	4	1124	4	IGSF22	11	18731052	Nonsense_Mutation	SNP	G	TCGA-EM-A1YA-01A-11D-A14W-08		18731052	116275464	7	5961											
PKM2	5315	broad.mit.edu	37	chr15	72495521	72495521	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacatggctgcctcagcctcAcgagctatctgtaaggttta	9	11	3	0			TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chr15:72495521A>G	ENST00000335181.5	-	9	1244				PKM_ENST00000389093.3_Silent_p.R383R|PKM_ENST00000568883.1_Silent_p.R218R|PKM_ENST00000565184.1_Silent_p.R383R|PKM_ENST00000568459.1_Silent_p.R383R|PKM_ENST00000319622.6_Silent_p.R383R|PKM_ENST00000565154.1_Silent_p.R383R|PKM_ENST00000449901.2_Intron	NM_002654.4	NP_002645.3	P14618	KPYM_HUMAN	pyruvate kinase, muscle						carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|programmed cell death (GO:0012501)|small molecule metabolic process (GO:0044281)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			endometrium(1)|lung(7)	8					Pyruvic acid(DB00119)	CCTCAGCCTCACGAGCTATCT	0.527																																						ENST00000319622.6																			0				endometrium(1)|lung(7)	8						c.(1147-1149)cgT>cgC		pyruvate kinase, muscle							74	69	71					15																	72495521		2199	4297	6496	SO:0001627	intron_variant	5315							g.chr15:72495521A>G	M23725	CCDS32284.1, CCDS32285.1, CCDS55972.1, CCDS73752.1	15q23	2012-10-02		2012-05-23	ENSG00000067225	ENSG00000067225	2.7.1.40		9021	protein-coding gene	gene with protein product		179050		PKM2		2040271	Standard	NM_002654		Approved	THBP1, OIP3, PK3	uc002atr.1	P14618	OTTHUMG00000172709	ENST00000335181.5:c.1141-560T>C	15.37:g.72495521A>G						PKM_ENST00000335181.5_Intron|PKM_ENST00000449901.2_Intron|PKM_ENST00000568459.1_Silent_p.R383R|PKM_ENST00000568883.1_Silent_p.R218R|PKM_ENST00000389093.3_Silent_p.R383R|PKM_ENST00000565154.1_Silent_p.R383R|PKM_ENST00000565184.1_Silent_p.R383R	p.R383R	NM_001206796.1|NM_182470.2|NM_182471.2	NP_001193725.1|NP_872270.1|NP_872271.1					9	1605	-								A6NFK3|B2R5N8|B3KRY0|B4DFX8|B4DUU6|P14786|Q53GK4|Q96E76|Q9BWB5|Q9UCV6|Q9UPF2	Silent	SNP	ENST00000335181.5	37	c.1149T>C	CCDS32284.1																																																																																				0.527	PKM-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420056.1			3	42	0	0	0	0.115264	0	3	42					G	72495521	A	G	72495521	1	3	276	0	1	0	0	0	0	0	0	0	11977	146	6	3		3	PKM2	15	72495521	Intron	SNP	A	TCGA-EM-A1YA-01A-11D-A14W-08		72495521	30035871	8	5962											
DNAH2	146754	broad.mit.edu	37	chr17	7734055	7734055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttaagtacctcattgccgGcatcaactatggtggacatg	9	10	2	0			TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chr17:7734055G>A	ENST00000572933.1	+	79	13585	c.12125G>A	c.(12124-12126)gGc>gAc	p.G4042D	DNAH2_ENST00000389173.2_Missense_Mutation_p.G4042D			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4042					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)	p.G4042D(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTCATTGCCGGCATCAACTAT	0.507																																						ENST00000572933.1																			1	Substitution - Missense(1)	p.G4042D(1)	prostate(1)	NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(12124-12126)gGc>gAc		dynein, axonemal, heavy chain 2							97	93	94					17																	7734055		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7734055G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.12125G>A	17.37:g.7734055G>A	ENSP00000458355:p.Gly4042Asp					DNAH2_ENST00000389173.2_Missense_Mutation_p.G4042D	p.G4042D			Q9P225	DYH2_HUMAN			79	13585	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	4042					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.12125G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.292863	0.23564	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.07216	3.21	5.84	5.84	0.93424	Dynein heavy chain (1);	0.058521	0.64402	D	0.000002	T	0.08133	0.0203	N	0.17248	0.465	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.19666	0.011;0.026	T	0.32745	-0.9895	10	0.45353	T	0.12	.	18.9094	0.92477	0.0:0.0:1.0:0.0	.	4003;4042	Q9P225-2;Q9P225	.;DYH2_HUMAN	D	4003;4042	ENSP00000373825:G4042D	ENSP00000353818:G4003D	G	+	2	0	DNAH2	7674780	1.000000	0.71417	0.209000	0.23619	0.814000	0.46013	6.261000	0.72509	2.779000	0.95612	0.655000	0.94253	GGC		0.507	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		3	54	0	0	0	0.115264	0	3	54					A	7734055	G	A	7734055	3	1	276	1	0	0	0	0	1	0	0	0	4602	1203	42	2	12435	2	DNAH2	17	7734055	Missense_Mutation	SNP	G	TCGA-EM-A1YA-01A-11D-A14W-08		7734055	73461155	9	5963											
PSG9	5678	broad.mit.edu	37	chr19	43766171	43766171	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtcacagggaggctctgacCattcatccaccataggtagc	10	12	3	1	rs373945115		TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chr19:43766171C>A	ENST00000270077.3	-	3	646	c.550G>T	c.(550-552)Ggt>Tgt	p.G184C	PSG9_ENST00000418820.2_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000593948.1_Missense_Mutation_p.G184C|PSG9_ENST00000244293.7_Missense_Mutation_p.G184C|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000291752.5_Intron	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	184	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				AGGCTCTGACCATTCATCCAC	0.507																																						ENST00000244293.7																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(550-552)Ggt>Tgt		pregnancy specific beta-1-glycoprotein 9							260	253	255					19																	43766171		2203	4300	6503	SO:0001583	missense	5678				female pregnancy	extracellular region		g.chr19:43766171C>A	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.550G>T	19.37:g.43766171C>A	ENSP00000270077:p.Gly184Cys					PSG9_ENST00000593948.1_Missense_Mutation_p.G184C|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000270077.3_Missense_Mutation_p.G184C|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000596730.1_Intron	p.G184C			Q00887	PSG9_HUMAN			3	616	-		Prostate(69;0.00682)	184			Ig-like C2-type 1.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000270077.3	37	c.550G>T	CCDS12618.1	.	.	.	.	.	.	.	.	.	.	N	11.58	1.680407	0.29872	.	.	ENSG00000183668	ENST00000270077;ENST00000435220;ENST00000244293	T;T	0.17213	2.29;2.29	2.12	-1.95	0.07548	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41971	0.1182	M	0.90252	3.1	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.19516	-1.0303	9	0.87932	D	0	.	6.1841	0.20488	0.0:0.7109:0.0:0.2891	.	184;184;184	Q15227;Q6LEU7;Q00887	.;.;PSG9_HUMAN	C	184;145;184	ENSP00000270077:G184C;ENSP00000244293:G184C	ENSP00000244293:G184C	G	-	1	0	PSG9	48458011	0.000000	0.05858	0.007000	0.13788	0.011000	0.07611	-1.033000	0.03571	-0.364000	0.08088	0.194000	0.17425	GGT		0.507	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		109	165	1	0	3.29639e-60	0.139131	3.86967e-60	109	165					A	43766171	C	A	43766171	3	1	276	1	0	0	0	0	1	0	0	0	12662	594	21	4	746	4	PSG9	19	43766171	Missense_Mutation	SNP	C	TCGA-EM-A1YA-01A-11D-A14W-08		43766171	15362812	10	5964											
TMPRSS15	5651	broad.mit.edu	37	chr21	19666639	19666639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcactgctgacgagagatgCgccgcagagcagtcggccgc	15	13	1	3	rs372571410		TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chr21:19666639C>T	ENST00000284885.3	-	21	2467	c.2434G>A	c.(2434-2436)Gca>Aca	p.A812T		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	812	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						ACGAGAGATGCGCCGCAGAGC	0.567																																						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.(2434-2436)Gca>Aca		transmembrane protease, serine 15		C	THR/ALA	0,4406		0,0,2203	75	77	76		2434	5.8	0.8	21		76	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMPRSS15	NM_002772.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	812/1020	19666639	1,13005	2203	4300	6503	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19666639C>T		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.2434G>A	21.37:g.19666639C>T	ENSP00000284885:p.Ala812Thr						p.A812T	NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN			21	2467	-			812			Peptidase S1.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.2434G>A	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266516	0.80358	0.0	1.16E-4	ENSG00000154646	ENST00000284885	D	0.94232	-3.38	5.79	5.79	0.91817	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.96858	0.8974	M	0.83692	2.655	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.96638	0.9472	9	.	.	.	.	17.5226	0.87791	0.0:1.0:0.0:0.0	.	812	P98073	ENTK_HUMAN	T	812	ENSP00000284885:A812T	.	A	-	1	0	TMPRSS15	18588510	1.000000	0.71417	0.847000	0.33407	0.213000	0.24496	6.497000	0.73674	2.729000	0.93468	0.643000	0.83706	GCA		0.567	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		5	64	0	0	0	0.014758	0	5	64					T	19666639	C	T	19666639	3	4	276	1	0	0	0	0	1	0	0	0	16243	768	27	1	645	1	TMPRSS15	21	19666639	Missense_Mutation	SNP	C	TCGA-EM-A1YA-01A-11D-A14W-08		19666639	28463256	11	5965											
EIF1AX	1964	broad.mit.edu	37	chrX	20148725	20148725	+	Splice_Site	SNP	G	G	A													tatcagtttcattgattttaGctaaggacacagtaagaaat							TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chrX:20148725G>A	ENST00000379607.5	-	6	541	c.338C>T	c.(337-339)gCt>gTt	p.A113V	EIF1AX_ENST00000379593.1_Splice_Site_p.A85V	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	113					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						ATTGATTTTAGCTAAGGACAC	0.313																																						ENST00000379607.5																			0				endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.e6-1		eukaryotic translation initiation factor 1A, X-linked							145	118	127					X																	20148725		2203	4297	6500	SO:0001630	splice_region_variant	1964					cytosol	translation initiation factor activity	g.chrX:20148725G>A	L18960	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674			3250	protein-coding gene	gene with protein product		300186	"eukaryotic translation initiation factor 1A, X chromosome"	EIF4C, EIF1A		8106356, 9381176	Standard	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.338-1C>T	X.37:g.20148725G>A						EIF1AX_ENST00000379593.1_Splice_Site_p.A85_splice	p.A113_splice	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN			6	541	-			113					B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Splice_Site	SNP	ENST00000379607.5	37	c.337_splice	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157761	0.38119	.	.	ENSG00000173674	ENST00000379607;ENST00000379593	T;T	0.40476	1.03;1.03	4.82	4.82	0.62117	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.39332	0.1074	L	0.56199	1.76	0.58432	D	0.999997	B	0.15141	0.012	B	0.16722	0.016	T	0.28138	-1.0053	9	0.12766	T	0.61	.	17.1436	0.86760	0.0:0.0:1.0:0.0	.	113	P47813	IF1AX_HUMAN	V	113;85	ENSP00000368927:A113V;ENSP00000368912:A85V	ENSP00000368912:A85V	A	-	2	0	EIF1AX	20058646	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.956000	0.93066	1.967000	0.57214	0.594000	0.82650	GCT		0.313	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1		Missense_Mutation	22	41	0	0	0	0.062417	0	22	41					A	20148725	G	A	20148725	5	1	276	1	0	0	0	0	0	0	1	0	4992	985	34	2	104	2	EIF1AX	23	20148725	Splice_Site	SNP	G	TCGA-EM-A1YA-01A-11D-A14W-08		20148725	135121835	12	5966	29	2									
EIF1AX	1964	broad.mit.edu	37	chrX	20148726	20148726	+	Splice_Site	SNP	C	C	A													atcagtttcattgattttagCtaaggacacagtaagaaata							TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chrX:20148726C>A	ENST00000379607.5	-	6	541		c.e6-1		EIF1AX_ENST00000379593.1_Splice_Site	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						TTGATTTTAGCTAAGGACACA	0.313																																						ENST00000379607.5																			0				endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.e6-1		eukaryotic translation initiation factor 1A, X-linked							143	117	126					X																	20148726		2203	4297	6500	SO:0001630	splice_region_variant	1964					cytosol	translation initiation factor activity	g.chrX:20148726C>A	L18960	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674			3250	protein-coding gene	gene with protein product		300186	"eukaryotic translation initiation factor 1A, X chromosome"	EIF4C, EIF1A		8106356, 9381176	Standard	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.338-1G>T	X.37:g.20148726C>A						EIF1AX_ENST00000379593.1_Splice_Site		NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN			6	541	-								B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Splice_Site	SNP	ENST00000379607.5	37		CCDS14196.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805406	0.70682	.	.	ENSG00000173674	ENST00000379607;ENST00000379593	.	.	.	4.64	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1934	0.73063	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EIF1AX	20058647	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.770000	0.74990	2.025000	0.59659	0.594000	0.82650	.		0.313	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1		Intron	21	42	1	0	6.33239e-15	0.055883	7.12393e-15	21	42					A	20148726	C	A	20148726	5	1	276	1	0	0	0	0	0	0	1	0	4992	811	28	4	105	4	EIF1AX	23	20148726	Splice_Site	SNP	C	TCGA-EM-A1YA-01A-11D-A14W-08	1	20148726	135121834	13	5967	29	2									
CASZ1	54897	broad.mit.edu	37	chr1	10720553	10720553	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aacatgccgaggaactcggtCatggtggaggccgcgtagtc	15	10	1	0			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr1:10720553C>T	ENST00000377022.3	-	6	863	c.546G>A	c.(544-546)atG>atA	p.M182I	CASZ1_ENST00000478728.2_5'Flank|CASZ1_ENST00000344008.5_Missense_Mutation_p.M182I	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	182					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGAACTCGGTCATGGTGGAGG	0.652																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(544-546)atG>atA		castor zinc finger 1							31	32	32					1																	10720553		2203	4300	6503	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10720553C>T	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.546G>A	1.37:g.10720553C>T	ENSP00000366221:p.Met182Ile					CASZ1_ENST00000344008.5_Missense_Mutation_p.M182I	p.M182I	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	6	863	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	182					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.546G>A	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020816	0.75275	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.22	3.22	0.36961	.	0.000000	0.85682	D	0.000000	T	0.53174	0.1780	L	0.34521	1.04	0.30753	N	0.744911	D;D;D;B	0.63880	0.984;0.993;0.984;0.417	P;P;P;B	0.61874	0.712;0.895;0.786;0.085	T	0.58393	-0.7644	9	0.72032	D	0.01	-23.3279	13.6498	0.62304	0.0:0.8439:0.1561:0.0	.	206;182;182;182	B7Z1S3;B3KRV8;Q86V15-2;Q86V15	.;.;.;CASZ1_HUMAN	I	182	.	ENSP00000339445:M182I	M	-	3	0	CASZ1	10643140	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.629000	0.67798	2.081000	0.62600	0.491000	0.48974	ATG		0.652	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		5	21	0	0	0	0.02938	0	5	21					T	10720553	C	T	10720553	3	4	277	1	0	0	0	0	1	0	0	0	2685	826	29	2	4801	2	CASZ1	1	10720553	Missense_Mutation	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08		10720553	238530068	1	5968											
KTI12	112970	broad.mit.edu	37	chr1	52499429	52499429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccgcaaaacaccacgagcGgcatcctctcagggagcgac	11	16	1	0			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr1:52499429G>A	ENST00000371614.1	-	1	59	c.5C>T	c.(4-6)cCg>cTg	p.P2L	TXNDC12_ENST00000371626.4_Intron|RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000610127.1_3'UTR	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	2							ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						CACCACGAGCGGCATCCTCTC	0.657																																						ENST00000371614.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						c.(4-6)cCg>cTg		KTI12 homolog, chromatin associated (S. cerevisiae)							9	10	9					1																	52499429		2130	4179	6309	SO:0001583	missense	112970						ATP binding	g.chr1:52499429G>A		CCDS562.1	1p32.3	2008-02-05			ENSG00000198841	ENSG00000198841			25160	protein-coding gene	gene with protein product						11929532	Standard	NM_138417		Approved	TOT4, MGC20419, SBBI81	uc001ctj.1	Q96EK9	OTTHUMG00000008630	ENST00000371614.1:c.5C>T	1.37:g.52499429G>A	ENSP00000360676:p.Pro2Leu					TXNDC12_ENST00000472624.1_Intron|RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000371626.4_Intron	p.P2L	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN			1	59	-			2						Missense_Mutation	SNP	ENST00000371614.1	37	c.5C>T	CCDS562.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.393383	0.83011	.	.	ENSG00000198841	ENST00000371614	T	0.43688	0.94	5.06	5.06	0.68205	.	0.069384	0.64402	U	0.000020	T	0.70876	0.3274	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.77991	-0.2379	10	0.87932	D	0	.	15.2953	0.73902	0.0:0.0:1.0:0.0	.	2	Q96EK9	KTI12_HUMAN	L	2	ENSP00000360676:P2L	ENSP00000360676:P2L	P	-	2	0	KTI12	52272017	1.000000	0.71417	0.999000	0.59377	0.396000	0.30629	5.531000	0.67148	2.627000	0.88993	0.655000	0.94253	CCG		0.657	KTI12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023821.1	NM_138417		4	11	0	0	0	0.014758	0	4	11					A	52499429	G	A	52499429	3	1	277	1	0	0	0	0	1	0	0	0	8584	1116	39	1	1063	1	KTI12	1	52499429	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	41778876	52499429	196751192	2	5969											
BCAR3	8412	broad.mit.edu	37	chr1	94054850	94054850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcgctgagtcgcagaaCtgtccggttgattttgaagt	13	9	0	4			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr1:94054850C>T	ENST00000370244.1	-	7	901	c.613G>A	c.(613-615)Gtt>Att	p.V205I	BCAR3_ENST00000370243.1_Missense_Mutation_p.V205I|BCAR3_ENST00000260502.6_Missense_Mutation_p.V205I|RP5-1033H22.2_ENST00000427243.1_RNA|RP5-1033H22.2_ENST00000417401.1_RNA|BCAR3_ENST00000370247.3_Missense_Mutation_p.V114I|RP5-1033H22.2_ENST00000431770.1_RNA	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	205	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		AGTCGCAGAACTGTCCGGTTG	0.582																																						ENST00000370244.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25						c.(613-615)Gtt>Att		breast cancer anti-estrogen resistance 3							50	51	51					1																	94054850		2203	4300	6503	SO:0001583	missense	8412				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:94054850C>T	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"SH2 domain containing"	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.613G>A	1.37:g.94054850C>T	ENSP00000359264:p.Val205Ile					BCAR3_ENST00000370243.1_Missense_Mutation_p.V205I|BCAR3_ENST00000370247.3_Missense_Mutation_p.V114I|BCAR3_ENST00000260502.6_Missense_Mutation_p.V205I	p.V205I	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	7	901	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	205			SH2.		D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	ENST00000370244.1	37	c.613G>A	CCDS745.1	.	.	.	.	.	.	.	.	.	.	C	9.406	1.079240	0.20227	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	4.96	3.05	0.35203	SH2 motif (4);	0.110806	0.64402	D	0.000011	T	0.78597	0.4308	L	0.45051	1.395	0.80722	D	1	B;B	0.20368	0.044;0.04	B;B	0.30782	0.12;0.032	T	0.77749	-0.2471	10	0.51188	T	0.08	1.6997	10.7212	0.46042	0.0:0.7391:0.0:0.2609	.	205;114	O75815;Q5TEW3	BCAR3_HUMAN;.	I	114;205;205;205	ENSP00000359267:V114I;ENSP00000260502:V205I;ENSP00000359264:V205I;ENSP00000359263:V205I	ENSP00000260502:V205I	V	-	1	0	BCAR3	93827438	0.890000	0.30428	0.115000	0.21578	0.299000	0.27559	1.750000	0.38329	1.224000	0.43551	0.561000	0.74099	GTT		0.582	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			4	22	0	0	0	0.014758	0	4	22					T	94054850	C	T	94054850	3	4	277	1	0	0	0	0	1	0	0	0	1349	565	20	2	1896	2	BCAR3	1	94054850	Missense_Mutation	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08	41555421	94054850	155195771	3	5970											
TRIM46	80128	broad.mit.edu	37	chr1	155149705	155149705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagcctgacatacatcctggGaaaccaggacacggtacaga	11	11	0	2			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr1:155149705G>A	ENST00000334634.4	+	5	848	c.848G>A	c.(847-849)gGa>gAa	p.G283E	TRIM46_ENST00000368383.3_Missense_Mutation_p.G283E|TRIM46_ENST00000545012.1_Missense_Mutation_p.G157E|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368385.4_Missense_Mutation_p.G283E|TRIM46_ENST00000392451.2_Missense_Mutation_p.G283E|TRIM46_ENST00000543729.1_Missense_Mutation_p.G290E|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000368382.1_Missense_Mutation_p.G260E	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	283						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TACATCCTGGGAAACCAGGAC	0.612																																						ENST00000392451.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29						c.(847-849)gGa>gAa		tripartite motif containing 46							122	115	117					1																	155149705		2203	4300	6503	SO:0001583	missense	80128					intracellular	zinc ion binding	g.chr1:155149705G>A		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19019	protein-coding gene	gene with protein product		600986	"tripartite motif-containing 46"				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.848G>A	1.37:g.155149705G>A	ENSP00000334657:p.Gly283Glu					TRIM46_ENST00000334634.4_Missense_Mutation_p.G283E|TRIM46_ENST00000368382.1_Missense_Mutation_p.G260E|TRIM46_ENST00000545012.1_Missense_Mutation_p.G157E|TRIM46_ENST00000543729.1_Missense_Mutation_p.G290E|TRIM46_ENST00000368385.4_Missense_Mutation_p.G283E|TRIM46_ENST00000368383.3_Missense_Mutation_p.G283E|TRIM46_ENST00000468878.1_3'UTR	p.G283E			Q7Z4K8	TRI46_HUMAN	Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		5	931	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		283					A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	37	c.848G>A	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.347817	0.61183	.	.	ENSG00000163462	ENST00000543729;ENST00000430513;ENST00000368385;ENST00000545012;ENST00000392451;ENST00000368383;ENST00000368382;ENST00000334634	T;T;T;T;T;T;T	0.63744	0.95;0.71;-0.06;0.89;0.65;0.42;0.47	5.33	5.33	0.75918	.	0.204070	0.44285	D	0.000476	T	0.29423	0.0733	N	0.19112	0.55	0.36897	D	0.890186	P;P;P;P;P	0.42827	0.782;0.791;0.791;0.67;0.782	B;B;B;B;B	0.41764	0.189;0.366;0.191;0.366;0.324	T	0.28776	-1.0033	10	0.05833	T	0.94	.	14.8761	0.70496	0.0:0.0:1.0:0.0	.	270;283;260;283;283	F5H5Z2;Q5VT61;B1AVQ4;Q7Z4K8;Q7Z4K8-2	.;.;.;TRI46_HUMAN;.	E	290;270;283;157;283;283;260;283	ENSP00000442719:G290E;ENSP00000357369:G283E;ENSP00000440254:G157E;ENSP00000376245:G283E;ENSP00000357367:G283E;ENSP00000357366:G260E;ENSP00000334657:G283E	ENSP00000334657:G283E	G	+	2	0	TRIM46	153416329	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.971000	0.63749	2.665000	0.90641	0.655000	0.94253	GGA		0.612	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058		35	126	0	0	0	0.025465	0	35	126					A	155149705	G	A	155149705	3	1	277	1	0	0	0	0	1	0	0	0	16518	1174	41	2	866	2	TRIM46	1	155149705	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	61094855	155149705	94100916	4	5971											
ASPM	259266	broad.mit.edu	37	chr1	197115496	197115496	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcggccgcggggccccgCagccccgcgggcggcctccg	16	21	0	0			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr1:197115496C>T	ENST00000367409.4	-	1	328	c.72G>A	c.(70-72)ctG>ctA	p.L24L	ASPM_ENST00000294732.7_Silent_p.L24L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	24					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						cggggccccgcagccccgcgg	0.701																																						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.(70-72)ctG>ctA		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							11	16	14					1																	197115496		2146	4180	6326	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197115496C>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.72G>A	1.37:g.197115496C>T						ASPM_ENST00000294732.7_Silent_p.L24L	p.L24L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			1	328	-			24					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.72G>A	CCDS1389.1																																																																																				0.701	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		6	21	0	0	0	0.02938	0	6	21					T	197115496	C	T	197115496	2	4	277	1	0	0	0	0	0	0	0	1	1056	697	25	2		2	ASPM	1	197115496	Silent	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08	41965791	197115496	52135125	5	5972											
ID2	3398	broad.mit.edu	37	chr2	8822537	8822537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgcagatcgccctggactCgcatcccactattgtcagcc	8	17	1	1			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr2:8822537C>T	ENST00000234091.4	+	3	1102	c.242C>T	c.(241-243)tCg>tTg	p.S81L	AC011747.7_ENST00000455965.1_RNA|ID2_ENST00000331129.3_Missense_Mutation_p.S81L|ID2_ENST00000396290.1_Missense_Mutation_p.S81L			Q02363	ID2_HUMAN	inhibitor of DNA binding 2, dominant negative helix-loop-helix protein	81					adipose tissue development (GO:0060612)|bundle of His development (GO:0003166)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|embryonic digestive tract morphogenesis (GO:0048557)|endodermal digestive tract morphogenesis (GO:0061031)|entrainment of circadian clock by photoperiod (GO:0043153)|enucleate erythrocyte differentiation (GO:0043353)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|locomotor rhythm (GO:0045475)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|membranous septum morphogenesis (GO:0003149)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|natural killer cell differentiation (GO:0001779)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of DNA binding (GO:0043392)|negative regulation of gene expression (GO:0010629)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of oligodendrocyte differentiation (GO:0048715)|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)|neuron fate commitment (GO:0048663)|olfactory bulb development (GO:0021772)|oligodendrocyte development (GO:0014003)|Peyer's patch development (GO:0048541)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of lipid metabolic process (GO:0019216)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|protein complex (GO:0043234)	ion channel binding (GO:0044325)			breast(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GCCCTGGACTCGCATCCCACT	0.587																																						ENST00000234091.4																			0				breast(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(241-243)tCg>tTg		inhibitor of DNA binding 2, dominant negative helix-loop-helix protein							69	71	70					2																	8822537		2203	4300	6503	SO:0001583	missense	3398				cellular senescence|embryonic digestive tract morphogenesis|endodermal digestive tract morphogenesis|epithelial cell differentiation involved in mammary gland alveolus development|mammary gland epithelial cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of neuron differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|neuron fate commitment|positive regulation of blood pressure|positive regulation of cell cycle arrest|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent	protein complex	protein binding	g.chr2:8822537C>T		CCDS1659.1	2p25	2013-05-21			ENSG00000115738	ENSG00000115738		"Basic helix-loop-helix proteins"	5361	protein-coding gene	gene with protein product	"cell growth-inhibiting gene 8"	600386				8294468	Standard	NM_002166		Approved	GIG8, bHLHb26	uc002qza.3	Q02363	OTTHUMG00000112454	ENST00000234091.4:c.242C>T	2.37:g.8822537C>T	ENSP00000234091:p.Ser81Leu					ID2_ENST00000396290.1_Missense_Mutation_p.S81L|ID2_ENST00000331129.3_Missense_Mutation_p.S81L	p.S81L			Q02363	ID2_HUMAN			3	1102	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		81						Missense_Mutation	SNP	ENST00000234091.4	37	c.242C>T	CCDS1659.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541711	0.65198	.	.	ENSG00000115738	ENST00000234091;ENST00000396290;ENST00000331129	D;D;D	0.98329	-4.87;-4.87;-4.87	5.56	5.56	0.83823	Helix-loop-helix DNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.97126	0.9061	L	0.59436	1.845	0.80722	D	1	B	0.11235	0.004	B	0.04013	0.001	D	0.94318	0.7551	10	0.62326	D	0.03	-5.0979	19.5147	0.95159	0.0:1.0:0.0:0.0	.	81	Q02363	ID2_HUMAN	L	81	ENSP00000234091:S81L;ENSP00000379585:S81L;ENSP00000385465:S81L	ENSP00000234091:S81L	S	+	2	0	ID2	8739988	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.884000	0.69729	2.610000	0.88304	0.555000	0.69702	TCG		0.587	ID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000231925.2	NM_002166		16	41	0	0	0	0.043863	0	16	41					T	8822537	C	T	8822537	3	4	277	1	0	0	0	0	1	0	0	0	7490	893	31	1	244	1	ID2	2	8822537	Missense_Mutation	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08		8822537	234376836	6	5973											
CCDC80	151887	broad.mit.edu	37	chr3	112357200	112357200	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcagctcgtcctccagctgaGaggcagtaggccggctgagg	16	12	0	2			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr3:112357200G>T	ENST00000206423.3	-	2	2506	c.1553C>A	c.(1552-1554)tCt>tAt	p.S518Y	CCDC80_ENST00000475181.1_5'Flank|CCDC80_ENST00000439685.2_Missense_Mutation_p.S518Y	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	518	Lys-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CTCCAGCTGAGAGGCAGTAGG	0.473																																						ENST00000206423.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						c.(1552-1554)tCt>tAt		coiled-coil domain containing 80							62	65	64					3																	112357200		2203	4300	6503	SO:0001583	missense	151887							g.chr3:112357200G>T	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"steroid sensitive gene 1"	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.1553C>A	3.37:g.112357200G>T	ENSP00000206423:p.Ser518Tyr					CCDC80_ENST00000439685.2_Missense_Mutation_p.S518Y	p.S518Y	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN			2	2506	-			518			Lys-rich.		D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	c.1553C>A	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097691	0.76870	.	.	ENSG00000091986	ENST00000206423;ENST00000439685;ENST00000444594	T;T	0.50277	0.75;0.75	5.78	5.78	0.91487	.	0.325516	0.35096	N	0.003447	T	0.58119	0.2100	L	0.27053	0.805	0.39618	D	0.969988	D;D;D	0.67145	0.996;0.989;0.989	D;P;P	0.65874	0.939;0.817;0.781	T	0.61931	-0.6961	10	0.72032	D	0.01	-14.3876	20.0211	0.97503	0.0:0.0:1.0:0.0	.	529;518;518	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	Y	518;518;146	ENSP00000206423:S518Y;ENSP00000411814:S518Y	ENSP00000206423:S518Y	S	-	2	0	CCDC80	113839890	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.467000	0.66737	2.741000	0.93983	0.555000	0.69702	TCT		0.473	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		24	53	1	0	1.96895e-08	0.016522	2.22138e-08	24	53					T	112357200	G	T	112357200	3	4	277	1	0	0	0	0	1	0	0	0	2854	942	33	4	1327	4	CCDC80	3	112357200	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08		112357200	85665230	7	5974											
MCM2	4171	broad.mit.edu	37	chr3	127335823	127335823	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtgtccagccgagccatcttCaccactggccagggggcgtc	13	15	2	0			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr3:127335823C>T	ENST00000265056.7	+	10	1879	c.1635C>T	c.(1633-1635)ttC>ttT	p.F545F		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	545	MCM.				cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						GAGCCATCTTCACCACTGGCC	0.607																																						ENST00000265056.7																			0				ovary(3)|skin(2)|stomach(1)	6						c.(1633-1635)ttC>ttT		minichromosome maintenance complex component 2							76	81	79					3																	127335823		2203	4300	6503	SO:0001819	synonymous_variant	4171				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127335823C>T	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"mitotin"	116945	"minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)", "MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.1635C>T	3.37:g.127335823C>T							p.F545F	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN			10	1879	+			545			MCM.		Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Silent	SNP	ENST00000265056.7	37	c.1635C>T	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.614554	0.28712	.	.	ENSG00000073111	ENST00000491422	.	.	.	5.79	3.03	0.35002	.	.	.	.	.	T	0.62097	0.2400	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58934	-0.7548	4	.	.	.	-36.7156	11.7228	0.51691	0.0:0.8055:0.0:0.1945	.	.	.	.	L	477	.	.	S	+	2	0	MCM2	128818513	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.299000	0.51826	0.794000	0.33899	0.650000	0.86243	TCA		0.607	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			46	75	0	0	0	0.01441	0	46	75					T	127335823	C	T	127335823	2	4	277	1	0	0	0	0	0	0	0	1	9386	825	29	2		2	MCM2	3	127335823	Silent	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08	14978623	127335823	70686607	8	5975											
PLXND1	23129	broad.mit.edu	37	chr3	129324718	129324718	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgtcggaggggttgaggtcGaaggtgaagagcttggccag	19	6	0	3			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr3:129324718G>A	ENST00000324093.4	-	1	943	c.765C>T	c.(763-765)ttC>ttT	p.F255F	PLXND1_ENST00000393239.1_Silent_p.F255F	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	255	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GGTTGAGGTCGAAGGTGAAGA	0.657																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	0				NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(763-765)ttC>ttT		plexin D1							42	39	40					3																	129324718		2203	4300	6503	SO:0001819	synonymous_variant	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129324718G>A	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"Plexins"	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.765C>T	3.37:g.129324718G>A						PLXND1_ENST00000324093.4_Silent_p.F255F	p.F255F			Q9Y4D7	PLXD1_HUMAN			1	943	-			255			Sema.		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	ENST00000324093.4	37	c.765C>T	CCDS33854.1																																																																																				0.657	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		3	15	0	0	0	0.004672	0	3	15					A	129324718	G	A	129324718	2	1	277	1	0	0	0	0	0	0	0	1	12127	1049	37	1		1	PLXND1	3	129324718	Silent	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	1988895	129324718	68697712	9	5976											
RPL9	6133	broad.mit.edu	37	chr4	39460022	39460022	+	Missense_Mutation	SNP	G	G	A													caagtctcataccattttctGgaatgtcgacagtctgattg							TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr4:39460022G>A	ENST00000449470.2	-	1	486	c.38C>T	c.(37-39)cCa>cTa	p.P13L	LIAS_ENST00000513731.1_5'Flank|RPL9_ENST00000295955.9_Missense_Mutation_p.P13L|LIAS_ENST00000261434.3_5'Flank|LIAS_ENST00000340169.2_5'Flank|LIAS_ENST00000381846.1_5'Flank	NM_001024921.2	NP_001020092.1	P32969	RL9_HUMAN	ribosomal protein L9	13					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)	RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1)	8						ACCATTTTCTGGAATGTCGAC	0.468																																						ENST00000449470.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1)	8						c.(37-39)cCa>cTa		ribosomal protein L9							107	98	101					4																	39460022		2203	4300	6503	SO:0001583	missense	6133				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|nucleolus|ribosome	rRNA binding|structural constituent of ribosome	g.chr4:39460022G>A	D14531	CCDS3452.1	4p13	2011-04-06			ENSG00000163682	ENSG00000163682		"L ribosomal proteins"	10369	protein-coding gene	gene with protein product		603686				8597601, 8415001	Standard	XM_005262661		Approved	L9	uc021sso.1	P32969	OTTHUMG00000099367	ENST00000449470.2:c.38C>T	4.37:g.39460022G>A	ENSP00000400467:p.Pro13Leu					RPL9_ENST00000295955.9_Missense_Mutation_p.P13L	p.P13L	NM_001024921.2	NP_001020092.1	P32969	RL9_HUMAN			1	486	-			13						Missense_Mutation	SNP	ENST00000449470.2	37	c.38C>T	CCDS3452.1	.	.	.	.	.	.	.	.	.	.	G	35	5.550149	0.96501	.	.	ENSG00000163682	ENST00000295955;ENST00000449470;ENST00000394452;ENST00000503040;ENST00000504470	.	.	.	5.77	5.77	0.91146	Ribosomal protein L6, alpha-beta domain (3);	0.000000	0.85682	U	0.000000	D	0.90103	0.6908	H	0.96691	3.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.92760	0.6223	9	0.72032	D	0.01	.	18.9865	0.92773	0.0:0.0:1.0:0.0	.	13;13	B4DLV8;P32969	.;RL9_HUMAN	L	13	.	ENSP00000346022:P13L	P	-	2	0	RPL9	39136417	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.267000	0.95665	2.724000	0.93272	0.561000	0.74099	CCA		0.468	RPL9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361018.1			11	45	0	0	0	0.008291	0	11	45					A	39460022	G	A	39460022	3	1	277	1	0	0	0	0	1	0	0	0	13603	1348	47	2	564	2	RPL9	4	39460022	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08		39460022	151694254	10	5977	30	2									
RPL9	6133	broad.mit.edu	37	chr4	39460023	39460023	+	Missense_Mutation	SNP	G	G	A													aagtctcataccattttctgGaatgtcgacagtctgattgc							TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr4:39460023G>A	ENST00000449470.2	-	1	485	c.37C>T	c.(37-39)Cca>Tca	p.P13S	LIAS_ENST00000513731.1_5'Flank|RPL9_ENST00000295955.9_Missense_Mutation_p.P13S|LIAS_ENST00000261434.3_5'Flank|LIAS_ENST00000340169.2_5'Flank|LIAS_ENST00000381846.1_5'Flank	NM_001024921.2	NP_001020092.1	P32969	RL9_HUMAN	ribosomal protein L9	13					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)	RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1)	8						CCATTTTCTGGAATGTCGACA	0.473																																						ENST00000449470.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1)	8						c.(37-39)Cca>Tca		ribosomal protein L9							107	99	101					4																	39460023		2203	4300	6503	SO:0001583	missense	6133				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|nucleolus|ribosome	rRNA binding|structural constituent of ribosome	g.chr4:39460023G>A	D14531	CCDS3452.1	4p13	2011-04-06			ENSG00000163682	ENSG00000163682		"L ribosomal proteins"	10369	protein-coding gene	gene with protein product		603686				8597601, 8415001	Standard	XM_005262661		Approved	L9	uc021sso.1	P32969	OTTHUMG00000099367	ENST00000449470.2:c.37C>T	4.37:g.39460023G>A	ENSP00000400467:p.Pro13Ser					RPL9_ENST00000295955.9_Missense_Mutation_p.P13S	p.P13S	NM_001024921.2	NP_001020092.1	P32969	RL9_HUMAN			1	485	-			13						Missense_Mutation	SNP	ENST00000449470.2	37	c.37C>T	CCDS3452.1	.	.	.	.	.	.	.	.	.	.	G	35	5.430539	0.96150	.	.	ENSG00000163682	ENST00000295955;ENST00000449470;ENST00000394452;ENST00000503040;ENST00000504470	.	.	.	5.77	5.77	0.91146	Ribosomal protein L6, alpha-beta domain (3);	0.000000	0.85682	U	0.000000	D	0.90027	0.6886	H	0.96691	3.865	0.80722	D	1	D;D	0.76494	0.999;0.991	D;D	0.77557	0.99;0.962	D	0.92828	0.6278	9	0.87932	D	0	.	18.9865	0.92773	0.0:0.0:1.0:0.0	.	13;13	B4DLV8;P32969	.;RL9_HUMAN	S	13	.	ENSP00000346022:P13S	P	-	1	0	RPL9	39136418	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.267000	0.95665	2.724000	0.93272	0.561000	0.74099	CCA		0.473	RPL9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361018.1			11	44	0	0	0	0.008291	0	11	44					A	39460023	G	A	39460023	3	1	277	1	0	0	0	0	1	0	0	0	13603	1174	41	2	565	2	RPL9	4	39460023	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	1	39460023	151694253	11	5978	30	2									
RUFY3	22902	broad.mit.edu	37	chr4	71634264	71634264	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctcttacagtgaattctaCgaacccaatgccctcatgat	5	12	3	2			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr4:71634264C>A	ENST00000226328.4	+	5	1145	c.582C>A	c.(580-582)taC>taA	p.Y194*	RUFY3_ENST00000502653.1_Nonsense_Mutation_p.Y141*|RUFY3_ENST00000417478.2_Nonsense_Mutation_p.Y254*|RUFY3_ENST00000536664.1_Nonsense_Mutation_p.Y178*|RUFY3_ENST00000381006.3_Nonsense_Mutation_p.Y194*	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	194	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			GTGAATTCTACGAACCCAATG	0.388																																						ENST00000226328.4																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16						c.(580-582)taC>taA		RUN and FYVE domain containing 3							149	146	147					4																	71634264		2203	4300	6503	SO:0001587	stop_gained	22902				negative regulation of axonogenesis	filopodium|growth cone		g.chr4:71634264C>A	AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"Zinc fingers, FYVE domain containing"	30285	protein-coding gene	gene with protein product	"single axon-related 1"	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.582C>A	4.37:g.71634264C>A	ENSP00000226328:p.Tyr194*					RUFY3_ENST00000417478.2_Nonsense_Mutation_p.Y254*|RUFY3_ENST00000536664.1_Nonsense_Mutation_p.Y178*|RUFY3_ENST00000502653.1_Nonsense_Mutation_p.Y141*|RUFY3_ENST00000381006.3_Nonsense_Mutation_p.Y194*	p.Y194*	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	Lung(101;0.235)		5	1145	+		all_hematologic(202;0.248)	194			RUN.		B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Nonsense_Mutation	SNP	ENST00000226328.4	37	c.582C>A	CCDS3547.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545550	0.86022	.	.	ENSG00000018189	ENST00000503876;ENST00000417478;ENST00000381006;ENST00000226328;ENST00000536664;ENST00000513597;ENST00000502653	.	.	.	5.53	4.34	0.51931	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.7693	9.1035	0.36683	0.0:0.1605:0.0:0.8395	.	.	.	.	X	130;254;194;194;178;130;141	.	ENSP00000226328:Y194X	Y	+	3	2	RUFY3	71853128	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.642000	0.24735	0.938000	0.37419	-0.350000	0.07774	TAC		0.388	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	NM_014961		4	104	1	0	1.024e-07	0.014758	1.14066e-07	4	104					A	71634264	C	A	71634264	4	1	277	1	0	0	0	0	0	1	0	0	13740	547	19	4	962	4	RUFY3	4	71634264	Nonsense_Mutation	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08	32174241	71634264	119520012	12	5979											
INTU	27152	broad.mit.edu	37	chr4	128554328	128554328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catattcctcagcgagtagcGattatgagtaaggttttcaa	9	7	2	1			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr4:128554328G>A	ENST00000335251.6	+	1	242	c.139G>A	c.(139-141)Gat>Aat	p.D47N	INTU_ENST00000296461.5_Missense_Mutation_p.D47N	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	47					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						AGCGAGTAGCGATTATGAGTA	0.488																																						ENST00000335251.5																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						c.(139-141)Gat>Aat		inturned planar cell polarity protein							89	88	88					4																	128554328		2203	4300	6503	SO:0001583	missense	27152							g.chr4:128554328G>A	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"PDZ domain containing 6", "inturned planar cell polarity effector homolog (Drosophila)"	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.139G>A	4.37:g.128554328G>A	ENSP00000334003:p.Asp47Asn					INTU_ENST00000296461.5_Missense_Mutation_p.D47N	p.D47N	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN			1	242	+			47					A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	ENST00000335251.6	37	c.139G>A	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.830399	0.32329	.	.	ENSG00000164066	ENST00000335251;ENST00000296461	T	0.49720	0.77	4.03	2.25	0.28309	.	0.417015	0.24321	N	0.039544	T	0.30070	0.0753	L	0.43152	1.355	0.09310	N	1	P	0.39920	0.695	B	0.30495	0.116	T	0.11348	-1.0591	10	0.30854	T	0.27	-2.4673	6.5913	0.22647	0.0:0.2259:0.5805:0.1936	.	47	Q9ULD6	PDZD6_HUMAN	N	47	ENSP00000296461:D47N	ENSP00000296461:D47N	D	+	1	0	INTU	128773778	0.378000	0.25114	0.005000	0.12908	0.840000	0.47671	1.243000	0.32767	0.618000	0.30179	0.655000	0.94253	GAT		0.488	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		5	65	0	0	0	0.021553	0	5	65					A	128554328	G	A	128554328	3	1	277	1	0	0	0	0	1	0	0	0	7786	1058	37	1	141	1	INTU	4	128554328	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	56920064	128554328	62599948	13	5980											
USP38	84640	broad.mit.edu	37	chr4	144109022	144109022	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattggcaagccttgtgcaGcatattcctcttcagatgat	9	10	2	2			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr4:144109022G>A	ENST00000307017.4	+	2	1232	c.726G>A	c.(724-726)caG>caA	p.Q242Q	USP38_ENST00000510377.1_Silent_p.Q242Q	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	242					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					GCCTTGTGCAGCATATTCCTC	0.388																																						ENST00000307017.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33						c.(724-726)caG>caA		ubiquitin specific peptidase 38							103	95	98					4																	144109022		2203	4300	6503	SO:0001819	synonymous_variant	84640				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr4:144109022G>A	AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"Ubiquitin-specific peptidases"	20067	protein-coding gene	gene with protein product			"ubiquitin specific protease 38"			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.726G>A	4.37:g.144109022G>A						USP38_ENST00000510377.1_Silent_p.Q242Q	p.Q242Q	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN			2	1232	+	all_hematologic(180;0.158)		242					B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Silent	SNP	ENST00000307017.4	37	c.726G>A	CCDS3758.1																																																																																				0.388	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364869.1	NM_032557		3	49	0	0	0	0.004672	0	3	49					A	144109022	G	A	144109022	2	1	277	1	0	0	0	0	0	0	0	1	17066	962	34	2		2	USP38	4	144109022	Silent	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	15554694	144109022	47045254	14	5981											
CASP3	836	broad.mit.edu	37	chr4	185550615	185550615	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atggcacaaagcgactggatGaaccaggagccatcctttga	11	10	0	2			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr4:185550615G>A	ENST00000308394.4	-	8	907	c.645C>T	c.(643-645)ttC>ttT	p.F215F	CASP3_ENST00000393588.4_Missense_Mutation_p.S175L|CASP3_ENST00000523916.1_Silent_p.F215F|CASP3_ENST00000393585.2_Missense_Mutation_p.S175L|CASP3_ENST00000517513.1_Missense_Mutation_p.S175L	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	215					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell homeostasis (GO:0001782)|cell fate commitment (GO:0045165)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte differentiation (GO:0030218)|execution phase of apoptosis (GO:0097194)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glial cell apoptotic process (GO:0034349)|heart development (GO:0007507)|hippo signaling (GO:0035329)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|keratinocyte differentiation (GO:0030216)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|proteolysis (GO:0006508)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|release of cytochrome c from mitochondria (GO:0001836)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:0097200)|peptidase activity (GO:0008233)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Minocycline(DB01017)	GCGACTGGATGAACCAGGAGC	0.393																																						ENST00000393585.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12						c.(523-525)tCa>tTa		caspase 3, apoptosis-related cysteine peptidase	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)						64	60	62					4																	185550615		2203	4300	6503	SO:0001819	synonymous_variant	836				activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding	g.chr4:185550615G>A	BC016926	CCDS3836.1	4q34	2008-02-05	2005-08-17		ENSG00000164305	ENSG00000164305		"Caspases"	1504	protein-coding gene	gene with protein product		600636	"caspase 3, apoptosis-related cysteine protease"			8780721	Standard	NM_004346		Approved	CPP32, CPP32B, Yama, apopain	uc003iwi.3	P42574	OTTHUMG00000133681	ENST00000308394.4:c.645C>T	4.37:g.185550615G>A						CASP3_ENST00000393588.4_Missense_Mutation_p.S175L|CASP3_ENST00000517513.1_Missense_Mutation_p.S175L|CASP3_ENST00000523916.1_Silent_p.F215F|CASP3_ENST00000308394.4_Silent_p.F215F	p.S175L			P42574	CASP3_HUMAN		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	7	858	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)	0					A8K5M2|D3DP53|Q96AN1|Q96KP2	Missense_Mutation	SNP	ENST00000308394.4	37	c.524C>T	CCDS3836.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571486	0.65765	.	.	ENSG00000164305	ENST00000393585;ENST00000517513;ENST00000393588	T;T;T	0.05580	3.42;3.42;3.42	5.69	2.43	0.29744	.	.	.	.	.	T	0.06280	0.0162	.	.	.	0.24896	N	0.992131	B	0.14805	0.011	B	0.20184	0.028	T	0.31420	-0.9944	8	0.87932	D	0	.	8.603	0.33756	0.2021:0.1316:0.6663:0.0	.	175	A8MVM1	.	L	175	ENSP00000377210:S175L;ENSP00000428372:S175L;ENSP00000377213:S175L	ENSP00000377210:S175L	S	-	2	0	CASP3	185787609	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.951000	0.40333	0.679000	0.31345	0.650000	0.86243	TCA		0.393	CASP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257885.2	NM_004346		15	42	0	0	0	0.038395	0	15	42					A	185550615	G	A	185550615	2	1	277	1	0	0	0	0	0	0	0	1	2672	1281	45	2		2	CASP3	4	185550615	Silent	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	41441593	185550615	5603661	15	5982											
CTNND2	1501	broad.mit.edu	37	chr5	10973762	10973762	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtaatttcttgtggaattctGaaatggctggtaggtctcgt	12	5	3	1			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr5:10973762G>C	ENST00000304623.8	-	22	3670	c.3481C>G	c.(3481-3483)Cag>Gag	p.Q1161E	CTNND2_ENST00000511377.1_Missense_Mutation_p.Q1070E|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.Q728E|CTNND2_ENST00000503622.1_Missense_Mutation_p.Q824E|CTNND2_ENST00000359640.2_Missense_Mutation_p.Q1103E	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1161					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTGGAATTCTGAAATGGCTGG	0.532																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(3481-3483)Cag>Gag		catenin (cadherin-associated protein), delta 2							124	107	113					5																	10973762		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:10973762G>C	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.3481C>G	5.37:g.10973762G>C	ENSP00000307134:p.Gln1161Glu					CTNND2_ENST00000458100.2_Missense_Mutation_p.Q728E|CTNND2_ENST00000359640.2_Missense_Mutation_p.Q1103E|CTNND2_ENST00000511377.1_Missense_Mutation_p.Q1070E|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.Q824E	p.Q1161E	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			22	3670	-			1161					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.3481C>G	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.043699	0.36085	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	T;T;T;T;T	0.76968	-0.93;-1.01;-0.93;-1.06;-1.05	5.93	5.93	0.95920	.	0.542825	0.18585	N	0.136906	T	0.69628	0.3132	N	0.19112	0.55	0.58432	D	0.999996	B;B;B	0.14805	0.004;0.004;0.011	B;B;B	0.21360	0.006;0.034;0.013	T	0.61292	-0.7092	10	0.37606	T	0.19	-2.7109	20.3368	0.98748	0.0:0.0:1.0:0.0	.	824;753;1161	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	E	1161;1103;1070;256;728;824	ENSP00000307134:Q1161E;ENSP00000352661:Q1103E;ENSP00000426510:Q1070E;ENSP00000391155:Q728E;ENSP00000426887:Q824E	ENSP00000307134:Q1161E	Q	-	1	0	CTNND2	11026762	1.000000	0.71417	0.981000	0.43875	0.997000	0.91878	9.476000	0.97823	2.805000	0.96524	0.655000	0.94253	CAG		0.532	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		19	47	0	0	0	0.043863	0	19	47					C	10973762	G	C	10973762	3	2	277	1	0	0	0	0	1	0	0	0	4020	1299	45	4	200	4	CTNND2	5	10973762	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08		10973762	169941498	16	5983											
MYO10	4651	broad.mit.edu	37	chr5	16689986	16689986	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaagtcctatcggccataatGatgtcgatcccattctcctt	6	12	1	1			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr5:16689986G>A	ENST00000513610.1	-	28	4297	c.3843C>T	c.(3841-3843)atC>atT	p.I1281I	MYO10_ENST00000427430.2_Silent_p.I638I|MYO10_ENST00000274203.9_Silent_p.I638I|MYO10_ENST00000515803.1_Silent_p.I620I|MYO10_ENST00000505695.1_Silent_p.I620I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1281	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CGGCCATAATGATGTCGATCC	0.468																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(3841-3843)atC>atT		myosin X							186	183	184					5																	16689986		2083	4220	6303	SO:0001819	synonymous_variant	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16689986G>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3843C>T	5.37:g.16689986G>A						MYO10_ENST00000515803.1_Silent_p.I620I|MYO10_ENST00000274203.9_Silent_p.I638I|MYO10_ENST00000505695.1_Silent_p.I620I|MYO10_ENST00000427430.2_Silent_p.I638I	p.I1281I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			28	4297	-			1281			PH 1.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	37	c.3843C>T	CCDS54834.1																																																																																				0.468	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		3	49	0	0	0	0.009096	0	3	49					A	16689986	G	A	16689986	2	1	277	1	0	0	0	0	0	0	0	1	10062	1280	45	2		2	MYO10	5	16689986	Silent	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	5716224	16689986	164225274	17	5984											
IRF1	3659	broad.mit.edu	37	chr5	131822017	131822017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccggcacaacttccactGggatgtgccagtcggggaga	14	11	0	1			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr5:131822017G>A	ENST00000245414.4	-	7	851	c.593C>T	c.(592-594)cCa>cTa	p.P198L	IRF1_ENST00000405885.2_Missense_Mutation_p.P198L|IRF1_ENST00000463784.1_5'Flank	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	198					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		AACTTCCACTGGGATGTGCCA	0.582																																						ENST00000245414.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11						c.(592-594)cCa>cTa		interferon regulatory factor 1							89	89	89					5																	131822017		2203	4300	6503	SO:0001583	missense	3659				blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm		g.chr5:131822017G>A		CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"interferon regulatory factor-1"	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.593C>T	5.37:g.131822017G>A	ENSP00000245414:p.Pro198Leu					IRF1_ENST00000405885.2_Missense_Mutation_p.P198L	p.P198L	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)	7	851	-		all_cancers(142;0.026)|Breast(839;0.198)	198					Q96GG7	Missense_Mutation	SNP	ENST00000245414.4	37	c.593C>T	CCDS4155.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.827610	0.32329	.	.	ENSG00000125347	ENST00000245414;ENST00000405885	D;D	0.81821	-1.54;-1.54	4.99	4.09	0.47781	.	1.143530	0.06063	N	0.658702	T	0.72211	0.3432	.	.	.	0.18873	N	0.999985	B;B	0.28128	0.201;0.181	B;B	0.24541	0.016;0.054	T	0.57700	-0.7766	9	0.30078	T	0.28	-4.4167	12.6501	0.56755	0.0:0.0:0.6897:0.3103	.	198;198	Q5FBX3;P10914	.;IRF1_HUMAN	L	198	ENSP00000245414:P198L;ENSP00000384406:P198L	ENSP00000245414:P198L	P	-	2	0	IRF1	131849916	0.417000	0.25432	0.072000	0.20136	0.712000	0.41017	2.383000	0.44354	1.409000	0.46915	0.655000	0.94253	CCA		0.582	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132340.1	NM_002198		4	88	0	0	0	0.009096	0	4	88					A	131822017	G	A	131822017	3	1	277	1	0	0	0	0	1	0	0	0	7827	1348	47	2	400	2	IRF1	5	131822017	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	115132031	131822017	49093243	18	5985											
PCDHB10	56126	broad.mit.edu	37	chr5	140573408	140573408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccgtcactgacttggggaCacccaggctgaaaaccgagc	11	14	1	2			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr5:140573408C>T	ENST00000239446.4	+	1	1467	c.1283C>T	c.(1282-1284)aCa>aTa	p.T428I		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	428	Cadherin 4. {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(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACTTGGGGACACCCAGGCTG	0.537																																						ENST00000239446.4																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(1282-1284)aCa>aTa									100	96	97					5																	140573408		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140573408C>T	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"Cadherins / Protocadherins : Clustered"	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1283C>T	5.37:g.140573408C>T	ENSP00000239446:p.Thr428Ile						p.T428I	NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1467	+			428			Cadherin 4.		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.1283C>T	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	C	8.230	0.804544	0.16467	.	.	ENSG00000120324	ENST00000239446	T	0.01821	4.62	3.22	2.34	0.29019	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.02970	0.0088	L	0.49640	1.575	0.21290	N	0.999736	B	0.17268	0.021	B	0.30029	0.11	T	0.35674	-0.9779	9	0.49607	T	0.09	.	10.4758	0.44663	0.0:0.8999:0.0:0.1001	.	428	Q9UN67	PCDBA_HUMAN	I	428	ENSP00000239446:T428I	ENSP00000239446:T428I	T	+	2	0	PCDHB10	140553592	0.000000	0.05858	0.011000	0.14972	0.562000	0.35680	-0.020000	0.12525	0.702000	0.31825	-0.273000	0.10243	ACA		0.537	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		33	46	0	0	0	0.013726	0	33	46					T	140573408	C	T	140573408	3	4	277	1	0	0	0	0	1	0	0	0	11535	478	17	2	1285	2	PCDHB10	5	140573408	Missense_Mutation	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08	8751391	140573408	40341852	19	5986											
HIST1H1E	3008	broad.mit.edu	37	chr6	26156747	26156747	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggcccccggtgtccgagctCattactaaagctgttgccgc	12	14	1	0			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr6:26156747C>T	ENST00000304218.3	+	1	189	c.129C>T	c.(127-129)ctC>ctT	p.L43L	HIST1H2BD_ENST00000289316.2_5'Flank|HIST1H2BD_ENST00000377777.4_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	43	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						TGTCCGAGCTCATTACTAAAG	0.627																																						ENST00000304218.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						c.(127-129)ctC>ctT		histone cluster 1, H1e							21	27	25					6																	26156747		2202	4299	6501	SO:0001819	synonymous_variant	3008				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26156747C>T	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"Histones / Replication-dependent"	4718	protein-coding gene	gene with protein product		142220	"H1 histone family, member 4", "histone 1, H1e"	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.129C>T	6.37:g.26156747C>T							p.L43L	NM_005321.2	NP_005312.1	P10412	H14_HUMAN			1	189	+			43			H15.		Q4VB25	Silent	SNP	ENST00000304218.3	37	c.129C>T	CCDS4586.1																																																																																				0.627	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		13	38	0	0	0	0.013537	0	13	38					T	26156747	C	T	26156747	2	4	277	1	0	0	0	0	0	0	0	1	7126	813	29	2		2	HIST1H1E	6	26156747	Silent	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08		26156747	144958320	20	5987											
TRIM10	10107	broad.mit.edu	37	chr6	30121959	30121959	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaggagcccagagccgagacGaagccccaagccagcctcac	11	16	1	2	rs562843566		TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr6:30121959G>A	ENST00000449742.2	-	7	1308	c.1233C>T	c.(1231-1233)ttC>ttT	p.F411F	TRIM10_ENST00000376704.3_Intron	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	411	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			ovary(1)	1						GAGCCGAGACGAAGCCCCAAG	0.672													G|||	1	0.000199681	0	0	5008	,	,		14727	0		0	False		,,,				2504	0.001					ENST00000449742.2																			0				ovary(1)	1						c.(1231-1233)ttC>ttT		tripartite motif containing 10							47	35	39					6																	30121959		1510	2709	4219	SO:0001819	synonymous_variant	10107					cytoplasm	zinc ion binding	g.chr6:30121959G>A	Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10072	protein-coding gene	gene with protein product		605701	"tripartite motif-containing 10"	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.1233C>T	6.37:g.30121959G>A						TRIM10_ENST00000376704.3_Intron	p.F411F	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN			7	1308	-			411			B30.2/SPRY.		A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Silent	SNP	ENST00000449742.2	37	c.1233C>T	CCDS34375.1																																																																																				0.672	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1			11	23	0	0	0	0.016723	0	11	23					A	30121959	G	A	30121959	2	1	277	1	0	0	0	0	0	0	0	1	16483	1049	37	1		1	TRIM10	6	30121959	Silent	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	3965212	30121959	140993108	21	5988											
FGD2	221472	broad.mit.edu	37	chr6	36983609	36983609	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ggcgcccagttccaggtgagGacccgcatcgatgtggccgg	16	13	0	1			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr6:36983609G>C	ENST00000274963.8	+	9	1266	c.1095G>C	c.(1093-1095)agG>agC	p.R365S		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	365	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						TCCAGGTGAGGACCCGCATCG	0.612																																						ENST00000274963.8																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						c.(1093-1095)agG>agC		FYVE, RhoGEF and PH domain containing 2							68	57	61					6																	36983609		2203	4299	6502	SO:0001583	missense	221472				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr6:36983609G>C	AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	3664	protein-coding gene	gene with protein product		605091	"FGD1 family, member 2"			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.1095G>C	6.37:g.36983609G>C	ENSP00000274963:p.Arg365Ser						p.R365S	NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN			9	1266	+			365			PH 1.		Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Missense_Mutation	SNP	ENST00000274963.8	37	c.1095G>C	CCDS4829.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.734831	0.69189	.	.	ENSG00000146192	ENST00000274963	D	0.85556	-2.0	4.63	3.76	0.43208	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.48286	D	0.000183	D	0.89736	0.6801	M	0.90814	3.15	0.39706	D	0.97126	D	0.76494	0.999	D	0.72982	0.979	D	0.89827	0.3993	10	0.87932	D	0	1.2561	5.735	0.18061	0.1744:0.2803:0.5453:0.0	.	365	Q7Z6J4	FGD2_HUMAN	S	365	ENSP00000274963:R365S	ENSP00000274963:R365S	R	+	3	2	FGD2	37091587	0.930000	0.31532	1.000000	0.80357	0.995000	0.86356	0.117000	0.15583	1.064000	0.40671	0.491000	0.48974	AGG		0.612	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558		2	6	0	0	0	0.004672	0	2	6					C	36983609	G	C	36983609	3	2	277	1	0	0	0	0	1	0	0	0	5833	1165	41	4	1129	4	FGD2	6	36983609	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	6861650	36983609	134131458	22	5989											
TREM1	54210	broad.mit.edu	37	chr6	41254385	41254385	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agcagcccccagagcctggtCttcctcatccttcctgtgca	8	17	2	1			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr6:41254385C>T	ENST00000244709.4	-	1	72	c.9G>A	c.(7-9)aaG>aaA	p.K3K	TREM1_ENST00000589614.1_Silent_p.K3K|TREM1_ENST00000591620.1_Silent_p.K3K|TREM1_ENST00000334475.6_Silent_p.K3K	NM_018643.3	NP_061113.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	3					blood coagulation (GO:0007596)|chemokine metabolic process (GO:0050755)|cytokine secretion involved in immune response (GO:0002374)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|neutrophil mediated killing of gram-negative bacterium (GO:0070945)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					AGAGCCTGGTCTTCCTCATCC	0.582																																						ENST00000591620.1																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16						c.(7-9)aaG>aaA		triggering receptor expressed on myeloid cells 1	Glutathione(DB00143)						92	84	87					6																	41254385		2203	4300	6503	SO:0001819	synonymous_variant	54210				blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity	g.chr6:41254385C>T	AF196329	CCDS4854.1, CCDS56427.1, CCDS59499.1	6p21.1	2013-01-11			ENSG00000124731	ENSG00000124731		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	17760	protein-coding gene	gene with protein product		605085				11922939, 10799849	Standard	NM_018643		Approved	TREM-1, CD354	uc003oqf.2	Q9NP99	OTTHUMG00000014674	ENST00000244709.4:c.9G>A	6.37:g.41254385C>T						TREM1_ENST00000334475.6_Silent_p.K3K|TREM1_ENST00000244709.4_Silent_p.K3K|TREM1_ENST00000589614.1_Silent_p.K3K	p.K3K	NM_001242589.1	NP_001229518.1	Q9NP99	TREM1_HUMAN			1	35	-	Ovarian(28;0.0327)|Colorectal(47;0.196)		3					B4DWG2|K7EJW1|Q53FL8|Q5T2C9|Q86YU1	Silent	SNP	ENST00000244709.4	37	c.9G>A	CCDS4854.1																																																																																				0.582	TREM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040505.2	NM_018643		12	52	0	0	0	0.020292	0	12	52					T	41254385	C	T	41254385	2	4	277	1	0	0	0	0	0	0	0	1	16467	912	32	2		2	TREM1	6	41254385	Silent	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08	4270776	41254385	129860682	23	5990											
NMBR	4829	broad.mit.edu	37	chr6	142409595	142409595	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atggcgctgttggtgatgaaGatcttcaccagcatgatgtt	12	7	2	4	rs368028844		TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr6:142409595G>A	ENST00000258042.1	-	1	341	c.201C>T	c.(199-201)atC>atT	p.I67I	RP11-137J7.2_ENST00000454401.1_RNA	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	67					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		TGGTGATGAAGATCTTCACCA	0.602																																						ENST00000258042.1																			0				breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(199-201)atC>atT		neuromedin B receptor		G		0,4406		0,0,2203	89	80	83		201	4.7	1.0	6		83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NMBR	NM_002511.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		67/391	142409595	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4829				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	g.chr6:142409595G>A		CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"GPCR / Class A : Bombesin receptors"	7843	protein-coding gene	gene with protein product	"bombesin receptor 1"	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.201C>T	6.37:g.142409595G>A						RP11-137J7.2_ENST00000454401.1_RNA	p.I67I	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)	1	341	-	Breast(32;0.155)		67					E9KL38|Q5VUK8	Silent	SNP	ENST00000258042.1	37	c.201C>T	CCDS5196.1																																																																																				0.602	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1			15	24	0	0	0	0.024245	0	15	24					A	142409595	G	A	142409595	2	1	277	1	0	0	0	0	0	0	0	1	10487	932	33	2		2	NMBR	6	142409595	Silent	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	101155210	142409595	28705472	24	5991											
DPY19L4	286148	broad.mit.edu	37	chr8	95738654	95738657	+	Frame_Shift_Del	DEL	GAAA	GAAA	-													tcagtgacattccaattcctGaaagagctccaaaacgtaag							TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr8:95738654_95738657delGAAA	ENST00000414645.2	+	2	211_214	c.112_115delGAAA	c.(112-117)gaaagafs	p.ER38fs		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	38						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TCCAATTCCTGAAAGAGCTCCAAA	0.328																																						ENST00000414645.2																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21						c.(112-117)gafs		dpy-19-like 4 (C. elegans)																																				SO:0001589	frameshift_variant	286148					integral to membrane		g.chr8:95738654_95738657delGAAA		CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.112_115delGAAA	8.37:g.95738654_95738657delGAAA	ENSP00000389630:p.Glu38fs						p.ER38fs	NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN			2	211_214	+	Breast(36;3.85e-06)		38					Q6ZW32|Q6ZW42|Q7Z329	Frame_Shift_Del	DEL	ENST00000414645.2	37	c.112_115delGAAA	CCDS34924.1																																																																																				0.328	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379339.1	NM_181787		8	29						8	29	---	---	---	---	-	95738657	GAAA	-	95738654	7	5	277	1	0	1	0	1	0	0	0	0	4743	1291	45	0	118	0	DPY19L4	8	95738654	Frame_Shift_Del	DEL	GAAA	TCGA-EM-A1YB-01A-11D-A14W-08		95738654	50625368	25	5992											
SQLE	6713	broad.mit.edu	37	chr8	126033114	126033114	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgttgggctgctttctgtGtaagttgtgatggcacagag	14	7	1	2			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr8:126033114G>A	ENST00000265896.5	+	10	2430		c.e10+1		SQLE_ENST00000523430.1_Splice_Site	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase						cellular aromatic compound metabolic process (GO:0006725)|cholesterol biosynthetic process (GO:0006695)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|squalene monooxygenase activity (GO:0004506)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TGCTTTCTGTGTAAGTTGTGA	0.383																																						ENST00000265896.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14						c.e10+1		squalene epoxidase	Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)						93	93	93					8																	126033114		1901	4120	6021	SO:0001630	splice_region_variant	6713				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity	g.chr8:126033114G>A	D78130	CCDS47918.1	8q24.1	2014-06-23			ENSG00000104549	ENSG00000104549	1.14.13.132		11279	protein-coding gene	gene with protein product	"squalene monooxygenase"	602019				9286711	Standard	NM_003129		Approved		uc011liq.2	Q14534	OTTHUMG00000164990	ENST00000265896.5:c.1532+1G>A	8.37:g.126033114G>A						SQLE_ENST00000523430.1_Splice_Site		NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		10	2430	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)							Q9UEK6	Splice_Site	SNP	ENST00000265896.5	37		CCDS47918.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904569	0.92035	.	.	ENSG00000104549	ENST00000523430;ENST00000265896;ENST00000541193	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SQLE	126102296	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.278000	0.95766	2.941000	0.99782	0.655000	0.94253	.		0.383	SQLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381362.1	NM_003129	Intron	6	17	0	0	0	0.021553	0	6	17					A	126033114	G	A	126033114	5	1	277	1	0	0	0	0	0	0	1	0	15127	1391	48	2	1470	2	SQLE	8	126033114	Splice_Site	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	30294460	126033114	20330908	26	5993											
FREM1	158326	broad.mit.edu	37	chr9	14824915	14824915	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccacctcagtttccttgaCaaccaaatgccgagaaactc	7	14	1	2			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr9:14824915C>A	ENST00000380880.3	-	11	2740	c.1957G>T	c.(1957-1959)Gtc>Ttc	p.V653F	FREM1_ENST00000380881.4_Missense_Mutation_p.V654F|FREM1_ENST00000422223.2_Missense_Mutation_p.V653F			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	653					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GTTTCCTTGACAACCAAATGC	0.418																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1960-1962)Gtc>Ttc		FRAS1 related extracellular matrix 1							89	83	85					9																	14824915		1834	4083	5917	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14824915C>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1957G>T	9.37:g.14824915C>A	ENSP00000370262:p.Val653Phe					FREM1_ENST00000422223.2_Missense_Mutation_p.V653F|FREM1_ENST00000380880.3_Missense_Mutation_p.V653F	p.V654F			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	12	2775	-			653					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.1960G>T	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120134	0.77323	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.50548	0.74;0.74;0.74	5.92	5.92	0.95590	.	0.161583	0.56097	D	0.000037	T	0.76111	0.3942	M	0.89534	3.04	0.52501	D	0.999956	D	0.71674	0.998	D	0.71414	0.973	T	0.79983	-0.1573	10	0.87932	D	0	-19.4499	20.3206	0.98668	0.0:1.0:0.0:0.0	.	653	Q5H8C1	FREM1_HUMAN	F	654;653;653	ENSP00000370263:V654F;ENSP00000412940:V653F;ENSP00000370262:V653F	ENSP00000370257:V656F	V	-	1	0	FREM1	14814915	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.883000	0.39658	2.809000	0.96659	0.655000	0.94253	GTC		0.418	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		8	35	1	0	7.48243e-07	0.006214	8.23067e-07	8	35					A	14824915	C	A	14824915	3	1	277	1	0	0	0	0	1	0	0	0	6044	478	17	4	4740	4	FREM1	9	14824915	Missense_Mutation	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08		14824915	126388516	27	5994											
PPP6C	5537	broad.mit.edu	37	chr9	127915858	127915858	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gccaacctgctcctcggggaCtgatagcccaggtatccaca	10	15	0	1			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr9:127915858C>G	ENST00000373547.4	-	6	722	c.623G>C	c.(622-624)aGt>aCt	p.S208T	PPP6C_ENST00000451402.1_Missense_Mutation_p.S245T|PPP6C_ENST00000373546.3_Missense_Mutation_p.S61T|PPP6C_ENST00000415905.1_Missense_Mutation_p.S186T	NM_002721.4	NP_002712.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	208					G1/S transition of mitotic cell cycle (GO:0000082)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						TCCTCGGGGACTGATAGCCCA	0.438																																						ENST00000451402.1																			0				NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						c.(733-735)aGt>aCt		protein phosphatase 6, catalytic subunit							80	75	77					9																	127915858		2203	4300	6503	SO:0001583	missense	5537				G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr9:127915858C>G	AF035158	CCDS6861.1, CCDS48018.1, CCDS48019.1	9q33.3	2010-03-17			ENSG00000119414	ENSG00000119414		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9323	protein-coding gene	gene with protein product		612725				9143513	Standard	NM_002721		Approved	PP6	uc004bpg.4	O00743	OTTHUMG00000020671	ENST00000373547.4:c.623G>C	9.37:g.127915858C>G	ENSP00000362648:p.Ser208Thr					PPP6C_ENST00000415905.1_Missense_Mutation_p.S186T|PPP6C_ENST00000373546.3_Missense_Mutation_p.S61T|PPP6C_ENST00000373547.4_Missense_Mutation_p.S208T	p.S245T	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN			7	954	-			208					B2R5V6|B7Z2W9|B7Z5K9|Q5U0A2|Q9UIC9	Missense_Mutation	SNP	ENST00000373547.4	37	c.734G>C	CCDS6861.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840940	0.91197	.	.	ENSG00000119414	ENST00000373547;ENST00000451402;ENST00000415905;ENST00000373546	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	5.76	5.76	0.90799	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.88299	0.6399	H	0.95884	3.735	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.91635	0.999;0.997;0.998	D	0.91413	0.5152	10	0.87932	D	0	-11.1956	18.9632	0.92684	0.0:1.0:0.0:0.0	.	186;245;208	O00743-2;O00743-3;O00743	.;.;PPP6_HUMAN	T	208;245;186;61	ENSP00000362648:S208T;ENSP00000392147:S245T;ENSP00000411744:S186T;ENSP00000362647:S61T	ENSP00000362647:S61T	S	-	2	0	PPP6C	126955679	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.445000	0.80570	2.724000	0.93272	0.585000	0.79938	AGT		0.438	PPP6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054060.1	NM_016294		14	10	0	0	0	0.016723	0	14	10					G	127915858	C	G	127915858	3	3	277	1	0	0	0	0	1	0	0	0	12407	565	20	4	302	4	PPP6C	9	127915858	Missense_Mutation	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08	113090943	127915858	13297573	28	5995											
C9orf116	138162	broad.mit.edu	37	chr9	138391667	138391667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggccttgggcgccacaggctCcgcgcacgctctggggcatt	15	15	1	0			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr9:138391667C>T	ENST00000429260.2	-	1	51	c.31G>A	c.(31-33)Gag>Aag	p.E11K	C9orf116_ENST00000371789.3_Missense_Mutation_p.E11K|C9orf116_ENST00000371791.1_Missense_Mutation_p.E11K|MRPS2_ENST00000241600.5_5'Flank|MRPS2_ENST00000371785.1_5'Flank	NM_001048265.1|NM_144654.2	NP_001041730.1|NP_653255.1	Q5BN46	CI116_HUMAN	chromosome 9 open reading frame 116	11															OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05)		GCCACAGGCTCCGCGCACGCT	0.697																																						ENST00000371789.3																			0											c.(31-33)Gag>Aag		chromosome 9 open reading frame 116							10	11	11					9																	138391667		2172	4281	6453	SO:0001583	missense	138162							g.chr9:138391667C>T	BC021261	CCDS6989.1, CCDS43899.1	9q34.3	2012-04-02			ENSG00000160345	ENSG00000160345			28435	protein-coding gene	gene with protein product	"p53-induced expression 1 in Rb&#8722;/&#8722; cells"	614502				12477932	Standard	NM_144654		Approved	MGC29761, RbEST47, PIERCE1	uc004cft.1	Q5BN46	OTTHUMG00000020902	ENST00000429260.2:c.31G>A	9.37:g.138391667C>T	ENSP00000395281:p.Glu11Lys					C9orf116_ENST00000429260.2_Missense_Mutation_p.E11K|C9orf116_ENST00000371791.1_Missense_Mutation_p.E11K	p.E11K			Q5BN46	CI116_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05)	1	697	-			11					Q5T897|Q8WU44	Missense_Mutation	SNP	ENST00000429260.2	37	c.31G>A	CCDS43899.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557303	0.65425	.	.	ENSG00000160345	ENST00000429260;ENST00000371789;ENST00000371791	.	.	.	3.66	2.75	0.32379	.	2.237690	0.01723	N	0.028415	T	0.44414	0.1292	L	0.47716	1.5	0.09310	N	1	B;B	0.20671	0.047;0.017	B;B	0.18561	0.022;0.022	T	0.28427	-1.0044	9	0.52906	T	0.07	-6.483	6.4017	0.21642	0.0:0.7584:0.0:0.2416	.	11;11	Q5BN46;Q5BN46-2	CI116_HUMAN;.	K	11	.	ENSP00000360854:E11K	E	-	1	0	C9orf116	137531488	0.027000	0.19231	0.019000	0.16419	0.056000	0.15407	1.435000	0.34969	0.820000	0.34516	0.462000	0.41574	GAG		0.697	C9orf116-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054985.2	NM_144654		4	5	0	0	0	0.014758	0	4	5					T	138391667	C	T	138391667	3	4	277	1	0	0	0	0	1	0	0	0	2450	864	30	2	391	2	C9orf116	9	138391667	Missense_Mutation	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08	10475809	138391667	2821764	29	5996											
ZDHHC16	84287	broad.mit.edu	37	chr10	99213324	99213324	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtgggccactataaccatcgGtacttcttctctttctgctt	7	12	3	0			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr10:99213324G>C	ENST00000370854.3	+	6	783	c.594G>C	c.(592-594)cgG>cgC	p.R198R	ZDHHC16_ENST00000353979.3_Intron|ZDHHC16_ENST00000352634.4_Silent_p.R198R|ZDHHC16_ENST00000393760.1_Silent_p.R198R|ZDHHC16_ENST00000370842.2_Silent_p.R198R|ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000345745.5_Silent_p.R133R|ZDHHC16_ENST00000370846.4_Intron	NM_032327.2	NP_115703.2	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	198					apoptotic process (GO:0006915)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		ATAACCATCGGTACTTCTTCT	0.483																																						ENST00000393760.1																			0				kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14						c.(592-594)cgG>cgC		zinc finger, DHHC-type containing 16							289	246	261					10																	99213324		2203	4300	6503	SO:0001819	synonymous_variant	84287				apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chr10:99213324G>C	AF258563	CCDS7460.1, CCDS7461.1, CCDS7462.1, CCDS7463.1, CCDS73176.1	10q24.1	2008-05-02			ENSG00000171307	ENSG00000171307		"Zinc fingers, DHHC-type"	20714	protein-coding gene	gene with protein product						12021275	Standard	NM_198043		Approved	APH2	uc001knk.3	Q969W1	OTTHUMG00000018847	ENST00000370854.3:c.594G>C	10.37:g.99213324G>C						ZDHHC16_ENST00000370846.4_Intron|ZDHHC16_ENST00000353979.3_Intron|ZDHHC16_ENST00000352634.4_Silent_p.R198R|ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000345745.5_Silent_p.R133R|ZDHHC16_ENST00000370842.2_Silent_p.R198R|ZDHHC16_ENST00000370854.3_Silent_p.R198R	p.R198R	NM_198046.1	NP_932163.1	Q969W1	ZDH16_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)	7	943	+		Colorectal(252;0.0846)	198					D3DR52|D3DR53|D3DR54|Q5JTG7|Q5JTH0|Q8N4Z6|Q8WY84|Q9BSV3	Silent	SNP	ENST00000370854.3	37	c.594G>C	CCDS7460.1	.	.	.	.	.	.	.	.	.	.	G	7.106	0.575096	0.13623	.	.	ENSG00000171307	ENST00000420089;ENST00000417044	.	.	.	5.95	-1.23	0.09465	.	.	.	.	.	T	0.55800	0.1943	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51988	-0.8635	4	.	.	.	-18.7209	10.2687	0.43470	0.1955:0.3872:0.4172:0.0	.	.	.	.	A	174;140	.	.	G	+	2	0	ZDHHC16	99203314	1.000000	0.71417	0.995000	0.50966	0.967000	0.64934	0.892000	0.28322	-0.100000	0.12241	-1.134000	0.01955	GGT		0.483	ZDHHC16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049658.2	NM_032327		5	168	0	0	0	0.014758	0	5	168					C	99213324	G	C	99213324	2	2	277	1	0	0	0	0	0	0	0	1	17603	1248	44	4		4	ZDHHC16	10	99213324	Silent	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08		99213324	36321423	30	5997											
VTI1A	143187	broad.mit.edu	37	chr10	114298090	114298090	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaatagcagtggaaaccgGtaagaattctgagagtgagc	12	7	1	3			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr10:114298090G>A	ENST00000393077.2	+	5	543		c.e5+1		VTI1A_ENST00000432306.1_Splice_Site	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A						intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	SNAP receptor activity (GO:0005484)		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		GTGGAAACCGGTAAGAATTCT	0.453			T	TCF7L2	colorectal																																	ENST00000393077.2				Dom	yes		10	10q25.2	143187	T	vesicle transport through interaction with t-SNAREs homolog 1A			E	TCF7L2		colorectal	VTI1A/TCF7L2(8)	0				breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						c.e5+1		vesicle transport through interaction with t-SNAREs 1A							101	104	103					10																	114298090		2203	4300	6503	SO:0001630	splice_region_variant	143187				intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	protein transporter activity|SNAP receptor activity	g.chr10:114298090G>A	BC017052	CCDS7575.2	10q25.2	2012-12-10	2012-12-10		ENSG00000151532	ENSG00000151532			17792	protein-coding gene	gene with protein product		614316	"vesicle transport through interaction with t-SNAREs homolog 1A (yeast)"			9446565	Standard	NM_145206		Approved	MVti1, Vti1a, Vti1-rp2	uc001kzz.3	Q96AJ9	OTTHUMG00000019063	ENST00000393077.2:c.427+1G>A	10.37:g.114298090G>A						VTI1A_ENST00000432306.1_Splice_Site		NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN		Epithelial(162;0.0126)|all cancers(201;0.0487)	5	543	+		Colorectal(252;0.0314)|Breast(234;0.183)						A2A307|B4E137|Q5W0D7	Splice_Site	SNP	ENST00000393077.2	37		CCDS7575.2	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999303	0.74818	.	.	ENSG00000151532	ENST00000393077;ENST00000432306	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1615	0.98135	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VTI1A	114288080	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.102000	0.94226	2.835000	0.97688	0.650000	0.86243	.		0.453	VTI1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050397.2		Intron	19	61	0	0	0	0.038395	0	19	61					A	114298090	G	A	114298090	5	1	277	1	0	0	0	0	0	0	1	0	17232	1275	44	2	446	2	VTI1A	10	114298090	Splice_Site	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	15084766	114298090	21236657	31	5998											
SESN3	143686	broad.mit.edu	37	chr11	94963999	94963999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaggtagttggcggcggccGacgggctgccgccgccccgg	19	15	0	0			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr11:94963999G>A	ENST00000536441.1	-	1	362	c.26C>T	c.(25-27)tCg>tTg	p.S9L	SESN3_ENST00000416495.2_Missense_Mutation_p.S9L|RP11-712B9.2_ENST00000536683.1_RNA|SESN3_ENST00000393234.1_Missense_Mutation_p.S9L|RP11-712B9.2_ENST00000543573.1_RNA|SESN3_ENST00000537480.1_Intron|RP11-712B9.2_ENST00000543150.1_RNA|SESN3_ENST00000278499.2_Intron|RP11-712B9.2_ENST00000534891.1_RNA|RP11-712B9.2_ENST00000540692.1_RNA	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	9					glucose homeostasis (GO:0042593)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)|response to insulin (GO:0032868)	nucleus (GO:0005634)				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		GGCGGCGGCCGACGGGCTGCC	0.751																																						ENST00000536441.1																			0				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16						c.(25-27)tCg>tTg		sestrin 3							6	10	9					11																	94963999		1906	3877	5783	SO:0001583	missense	143686				cell cycle arrest	nucleus		g.chr11:94963999G>A	AK096300	CCDS8303.1, CCDS60938.1	11q21	2005-09-18			ENSG00000149212	ENSG00000149212			23060	protein-coding gene	gene with protein product		607768				12607115	Standard	NM_144665		Approved	SEST3, MGC29667	uc001pfj.4	P58005	OTTHUMG00000167829	ENST00000536441.1:c.26C>T	11.37:g.94963999G>A	ENSP00000441927:p.Ser9Leu					SESN3_ENST00000278499.2_Intron|RP11-712B9.2_ENST00000543150.1_RNA|SESN3_ENST00000416495.2_Missense_Mutation_p.S9L|SESN3_ENST00000393234.1_Missense_Mutation_p.S9L|RP11-712B9.2_ENST00000536683.1_RNA|SESN3_ENST00000537480.1_Intron|RP11-712B9.2_ENST00000534891.1_RNA	p.S9L	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.234)	1	362	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	9					B7Z7P9|Q96AD1	Missense_Mutation	SNP	ENST00000536441.1	37	c.26C>T	CCDS8303.1	.	.	.	.	.	.	.	.	.	.	g	14.12	2.440317	0.43326	.	.	ENSG00000149212	ENST00000536441;ENST00000393234;ENST00000416495	T;T;T	0.23754	2.23;1.9;1.89	3.51	2.56	0.30785	.	0.405477	0.17910	U	0.157882	T	0.10637	0.0260	N	0.08118	0	0.24468	N	0.994409	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.21895	-1.0232	10	0.21014	T	0.42	-14.1665	6.2253	0.20703	0.1099:0.1882:0.7018:0.0	.	9;9	P58005-3;P58005	.;SESN3_HUMAN	L	9	ENSP00000441927:S9L;ENSP00000376926:S9L;ENSP00000407008:S9L	ENSP00000376926:S9L	S	-	2	0	SESN3	94603647	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.608000	0.36847	1.804000	0.52760	0.556000	0.70494	TCG		0.751	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396475.3	NM_144665		5	9	0	0	0	0.014758	0	5	9					A	94963999	G	A	94963999	3	1	277	1	0	0	0	0	1	0	0	0	14126	1059	37	1	1492	1	SESN3	11	94963999	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08		94963999	40042517	32	5999											
C11orf53	341032	broad.mit.edu	37	chr11	111154827	111154827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtcacgtcaggttactacGgtgtcagaagatctttctta	10	9	5	2			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr11:111154827G>A	ENST00000280325.4	+	3	181	c.34G>A	c.(34-36)Ggt>Agt	p.G12S		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	12								p.G12C(1)		endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		AGGTTACTACGGTGTCAGAAG	0.502											OREG0021325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000280325.4																			1	Substitution - Missense(1)	p.G12C(1)	lung(1)	endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8						c.(34-36)Ggt>Agt		chromosome 11 open reading frame 53							145	146	146					11																	111154827		2201	4297	6498	SO:0001583	missense	341032							g.chr11:111154827G>A	BC039669	CCDS31674.1	11q23.1	2012-05-31			ENSG00000150750	ENSG00000150750			30527	protein-coding gene	gene with protein product						12477932	Standard	NM_198498		Approved	MGC50104	uc001plc.3	Q8IXP5	OTTHUMG00000166656	ENST00000280325.4:c.34G>A	11.37:g.111154827G>A	ENSP00000280325:p.Gly12Ser		OREG0021325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1433		p.G12S	NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)	3	181	+		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)	12						Missense_Mutation	SNP	ENST00000280325.4	37	c.34G>A	CCDS31674.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461730	0.84425	.	.	ENSG00000150750	ENST00000280325	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.75451	0.3851	L	0.60455	1.87	0.53688	D	0.999979	D	0.76494	0.999	D	0.66602	0.945	T	0.70335	-0.4900	9	0.31617	T	0.26	-19.5702	18.9569	0.92662	0.0:0.0:1.0:0.0	.	12	Q8IXP5	CK053_HUMAN	S	12	.	ENSP00000280325:G12S	G	+	1	0	C11orf53	110660037	1.000000	0.71417	0.235000	0.24058	0.962000	0.63368	5.780000	0.68956	2.826000	0.97356	0.563000	0.77884	GGT		0.502	C11orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390989.1	NM_198498		7	178	0	0	0	0.02938	0	7	178					A	111154827	G	A	111154827	3	1	277	1	0	0	0	0	1	0	0	0	1648	1116	39	1	40	1	C11orf53	11	111154827	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	16190828	111154827	23851689	33	6000											
DNAJC22	79962	broad.mit.edu	37	chr12	49742735	49742735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccacctgtacctgggaaGggacagccacgccctgctct	10	17	1	0			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr12:49742735G>A	ENST00000549441.2	+	3	1284	c.80G>A	c.(79-81)aGg>aAg	p.R27K	DNAJC22_ENST00000395069.3_Missense_Mutation_p.R27K			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	27						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						TACCTGGGAAGGGACAGCCAC	0.652																																						ENST00000549441.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						c.(79-81)aGg>aAg		DnaJ (Hsp40) homolog, subfamily C, member 22							37	44	42					12																	49742735		2203	4299	6502	SO:0001583	missense	79962				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:49742735G>A	AK055747	CCDS8785.1	12q13.12	2011-09-02		2008-07-08	ENSG00000178401	ENSG00000178401		"Heat shock proteins / DNAJ (HSP40)"	25802	protein-coding gene	gene with protein product	"wurst homolog (Drosophila)"					17558392	Standard	NM_024902		Approved	wus, FLJ13236	uc001rua.3	Q8N4W6		ENST00000549441.2:c.80G>A	12.37:g.49742735G>A	ENSP00000446830:p.Arg27Lys					DNAJC22_ENST00000395069.3_Missense_Mutation_p.R27K	p.R27K			Q8N4W6	DJC22_HUMAN			3	1284	+			27					B3KP54	Missense_Mutation	SNP	ENST00000549441.2	37	c.80G>A	CCDS8785.1	.	.	.	.	.	.	.	.	.	.	G	31	5.075311	0.94000	.	.	ENSG00000178401	ENST00000549441;ENST00000395069	T;T	0.58797	0.31;0.31	4.91	4.91	0.64330	TM2 (1);	0.000000	0.85682	D	0.000000	T	0.62974	0.2472	L	0.33624	1.015	0.52501	D	0.999958	D	0.57257	0.979	P	0.56823	0.807	T	0.67526	-0.5648	10	0.87932	D	0	-10.4055	17.2967	0.87172	0.0:0.0:1.0:0.0	.	27	Q8N4W6	DJC22_HUMAN	K	27	ENSP00000446830:R27K;ENSP00000378508:R27K	ENSP00000378508:R27K	R	+	2	0	DNAJC22	48029002	1.000000	0.71417	0.913000	0.36048	0.995000	0.86356	9.060000	0.93907	2.452000	0.82932	0.556000	0.70494	AGG		0.652	DNAJC22-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404302.2	NM_024902		4	78	0	0	0	0.009096	0	4	78					A	49742735	G	A	49742735	3	1	277	1	0	0	0	0	1	0	0	0	4641	1000	35	2	82	2	DNAJC22	12	49742735	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08		49742735	84109160	34	6001											
KIAA0284	283638	broad.mit.edu	37	chr14	105352853	105352854	+	Frame_Shift_Ins	INS	-	-	G													cggacgggggccgaggccccINSgagccaggggtggagccaca							TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr14:105352853_105352854insG	ENST00000414716.3	+	12	2505_2506	c.2277_2278insG	c.(2278-2280)gagfs	p.E760fs	CEP170B_ENST00000453495.1_Frame_Shift_Ins_p.E761fs|CEP170B_ENST00000418279.1_Frame_Shift_Ins_p.E690fs|CEP170B_ENST00000556508.1_Frame_Shift_Ins_p.E690fs	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	760						cytoplasm (GO:0005737)|microtubule (GO:0005874)											GCCGAGGCCCCGAGCCAGGGGT	0.723																																						ENST00000453495.1																			0											c.(2278-2283)ccagccfs		centrosomal protein 170B																																				SO:0001589	frameshift_variant	283638							g.chr14:105352853_105352854insG	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"Cep170-related"		"KIAA0284"	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.2278dupG	14.37:g.105352854_105352854dupG	ENSP00000404151:p.Glu760fs					CEP170B_ENST00000418279.1_Frame_Shift_Ins_p.A690fs|CEP170B_ENST00000414716.3_Frame_Shift_Ins_p.A760fs|CEP170B_ENST00000556508.1_Frame_Shift_Ins_p.A690fs	p.A761fs							12	2508_2509	+								Q2KHR7|Q86TI7	Frame_Shift_Ins	INS	ENST00000414716.3	37	c.2280_2281insG	CCDS45175.1																																																																																				0.723	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		2	4						2	4	---	---	---	---	G	105352854	-	G	105352853	7	5	277	1	0	1	1	0	0	0	0	0	8166	639	23	0	2319	0	KIAA0284	14	105352853	Frame_Shift_Ins	INS	-	TCGA-EM-A1YB-01A-11D-A14W-08		105352853	1996687	35	6002											
RYR3	6263	broad.mit.edu	37	chr15	33833092	33833092	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaagtagcatcgaagaagGtgtgcttctttaaatgcatt	11	5	1	1			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr15:33833092G>A	ENST00000389232.4	+	7	716		c.e7+1		RYR3_ENST00000415757.3_Splice_Site	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3						calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATCGAAGAAGGTGTGCTTCTT	0.428																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.e7+1		ryanodine receptor 3							99	96	97					15																	33833092		1987	4152	6139	SO:0001630	splice_region_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33833092G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.646+1G>A	15.37:g.33833092G>A						RYR3_ENST00000415757.3_Splice_Site		NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	7	716	+		all_lung(180;7.18e-09)						O15175|Q15412	Splice_Site	SNP	ENST00000389232.4	37		CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.670326	0.88348	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	5.95	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7944	0.69868	0.0695:0.0:0.9305:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RYR3	31620384	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.755000	0.98912	1.534000	0.49203	0.655000	0.94253	.		0.428	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		Intron	6	62	0	0	0	0.021553	0	6	62					A	33833092	G	A	33833092	5	1	277	1	0	0	0	0	0	0	1	0	13770	1275	44	2	673	2	RYR3	15	33833092	Splice_Site	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08		33833092	68698300	36	6003											
C15orf52	388115	broad.mit.edu	37	chr15	40630052	40630052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcatagtcccagcccgcctCcgggggctcccccaccggcc	12	21	0	0			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr15:40630052C>T	ENST00000559313.1	-	6	703	c.688G>A	c.(688-690)Gag>Aag	p.E230K	C15orf52_ENST00000397536.2_Missense_Mutation_p.E20K|C15orf52_ENST00000557973.1_5'Flank	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	230							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		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;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		CAGCCCGCCTCCGGGGGCTCC	0.697																																						ENST00000397536.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19						c.(58-60)Gag>Aag		chromosome 15 open reading frame 52							9	11	10					15																	40630052		2154	4256	6410	SO:0001583	missense	388115							g.chr15:40630052C>T	AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.688G>A	15.37:g.40630052C>T	ENSP00000453969:p.Glu230Lys					C15orf52_ENST00000559313.1_Missense_Mutation_p.E230K	p.E20K			Q6ZUT6	CO052_HUMAN		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)	2	93	-		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)	230					B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Missense_Mutation	SNP	ENST00000559313.1	37	c.58G>A	CCDS10055.2	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835952	0.71373	.	.	ENSG00000188549	ENST00000382688;ENST00000397536;ENST00000397535	T	0.54479	0.57	4.63	4.63	0.57726	.	0.081616	0.44688	D	0.000425	T	0.67979	0.2951	M	0.72894	2.215	0.20489	N	0.999895	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.85130	0.997;0.994;0.997	T	0.59820	-0.7382	10	0.21540	T	0.41	-15.9455	12.996	0.58646	0.0:1.0:0.0:0.0	.	20;162;230	Q6ZUT6-2;Q6ZUT6-3;Q6ZUT6	.;.;CO052_HUMAN	K	230;20;162	ENSP00000380670:E20K	ENSP00000372135:E230K	E	-	1	0	C15orf52	38417344	0.192000	0.23301	0.164000	0.22755	0.366000	0.29705	1.743000	0.38258	2.097000	0.63578	0.563000	0.77884	GAG		0.697	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319567.2	NM_207380		3	13	0	0	0	0.009096	0	3	13					T	40630052	C	T	40630052	3	4	277	1	0	0	0	0	1	0	0	0	1800	864	30	2	940	2	C15orf52	15	40630052	Missense_Mutation	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08	6796960	40630052	61901340	37	6004											
ZNF710	374655	broad.mit.edu	37	chr15	90617455	90617455	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgctccagcaagtttaatctCaagggcaacctgagccggca	10	12	1	1			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr15:90617455C>T	ENST00000268154.4	+	4	2009	c.1758C>T	c.(1756-1758)ctC>ctT	p.L586L	RP11-617F23.1_ENST00000558334.1_RNA	NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	586					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)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			AGTTTAATCTCAAGGGCAACC	0.592																																						ENST00000268154.4																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19						c.(1756-1758)ctC>ctT		zinc finger protein 710							58	52	54					15																	90617455		2200	4298	6498	SO:0001819	synonymous_variant	374655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:90617455C>T	AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"Zinc fingers, C2H2-type"	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.1758C>T	15.37:g.90617455C>T							p.L586L	NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)		4	2009	+	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		586					A0AVS3|Q6ZMK9|Q8NDU0	Silent	SNP	ENST00000268154.4	37	c.1758C>T	CCDS10358.1																																																																																				0.592	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313423.1	NM_198526		18	33	0	0	0	0.038395	0	18	33					T	90617455	C	T	90617455	2	4	277	1	0	0	0	0	0	0	0	1	18112	813	29	2		2	ZNF710	15	90617455	Silent	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08	49987403	90617455	11913937	38	6005											
SPSB3	90864	broad.mit.edu	37	chr16	1828539	1828539	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacagtcacagaaggactcGccggtcacgggcaccgcact	12	15	2	1			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr16:1828539G>A	ENST00000566339.1	-	3	531	c.201C>T	c.(199-201)ggC>ggT	p.G67G	SPSB3_ENST00000301717.4_Silent_p.G67G	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	67					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						AGAAGGACTCGCCGGTCACGG	0.677																																						ENST00000566339.1																			0				endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						c.(199-201)ggC>ggT		splA/ryanodine receptor domain and SOCS box containing 3							73	76	75					16																	1828539		2198	4300	6498	SO:0001819	synonymous_variant	90864				intracellular signal transduction			g.chr16:1828539G>A		CCDS32365.1	16p13.3	2008-02-05				ENSG00000162032			30629	protein-coding gene	gene with protein product		611659	"chromosome 16 open reading frame 31"	C16orf31		12076535	Standard	NM_080861		Approved	SSB-3	uc002cmu.3	Q6PJ21		ENST00000566339.1:c.201C>T	16.37:g.1828539G>A						SPSB3_ENST00000301717.4_Silent_p.G67G	p.G67G	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN			3	531	-			67					D3DU78|Q49A96|Q86X18|Q8WXK5|Q96IE6|Q96RY2	Silent	SNP	ENST00000566339.1	37	c.201C>T	CCDS32365.1																																																																																				0.677	SPSB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433512.1	NM_080861		16	58	0	0	0	0.012319	0	16	58					A	1828539	G	A	1828539	2	1	277	1	0	0	0	0	0	0	0	1	15113	1074	38	1		1	SPSB3	16	1828539	Silent	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08		1828539	88526214	39	6006											
RUNDC2A	92017	broad.mit.edu	37	chr16	12121194	12121194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggtcacctgtctgtgtgCccagtttgaagccgtcctgc	12	13	2	1			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr16:12121194C>T	ENST00000566228.1	+	4	209	c.140C>T	c.(139-141)gCc>gTc	p.A47V		NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	47	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						TGTCTGTGTGCCCAGTTTGAA	0.572																																						ENST00000566228.1																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						c.(139-141)gCc>gTc		sorting nexin 29							99	92	95					16																	12121194		2197	4300	6497	SO:0001583	missense	92017				cell communication		phosphatidylinositol binding	g.chr16:12121194C>T	AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"Sorting nexins"	30542	protein-coding gene	gene with protein product			"RUN domain containing 2A"	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.140C>T	16.37:g.12121194C>T	ENSP00000456480:p.Ala47Val						p.A47V	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN			4	209	+			0					B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	ENST00000566228.1	37	c.140C>T	CCDS10553.2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060546	0.76074	.	.	ENSG00000140660	ENST00000268271	.	.	.	4.89	4.89	0.63831	.	0.070768	0.56097	D	0.000040	T	0.67608	0.2911	L	0.55481	1.735	0.80722	D	1	.	.	.	.	.	.	T	0.62812	-0.6775	7	0.22706	T	0.39	-9.9373	15.9258	0.79615	0.0:1.0:0.0:0.0	.	.	.	.	V	47	.	ENSP00000268271:A47V	A	+	2	0	RUNDC2A	12028695	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.124000	0.77185	2.406000	0.81754	0.549000	0.68633	GCC		0.572	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			27	57	0	0	0	0.027356	0	27	57					T	12121194	C	T	12121194	3	4	277	1	0	0	0	0	1	0	0	0	13743	739	26	2	154	2	RUNDC2A	16	12121194	Missense_Mutation	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08	10292655	12121194	78233559	40	6007											
KIAA0174	9798	broad.mit.edu	37	chr16	71954709	71954709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgtaggaccaaccagattgGaactgtgaatgacagggtaa	12	6	0	3			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr16:71954709G>A	ENST00000378799.6	+	5	781	c.425G>A	c.(424-426)gGa>gAa	p.G142E	IST1_ENST00000535424.1_Missense_Mutation_p.G155E|IST1_ENST00000606369.1_Intron|RP11-498D10.5_ENST00000567146.1_RNA|IST1_ENST00000378798.5_Missense_Mutation_p.G142E|IST1_ENST00000538565.1_Intron|IST1_ENST00000544564.1_Missense_Mutation_p.G142E|IST1_ENST00000541571.2_Missense_Mutation_p.G142E|IST1_ENST00000538850.1_5'UTR|IST1_ENST00000329908.8_Missense_Mutation_p.G142E			P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	142	Interaction with CHMP1A and CHMP1B.|Interaction with VPS37B.				abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of proteolysis (GO:0045862)|protein localization (GO:0008104)|viral capsid secondary envelopment (GO:0046745)|viral release from host cell (GO:0019076)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|midbody (GO:0030496)	MIT domain binding (GO:0090541)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)										AACCAGATTGGAACTGTGAAT	0.413																																						ENST00000378799.6																			0											c.(424-426)gGa>gAa		increased sodium tolerance 1 homolog (yeast)							173	141	152					16																	71954709		2198	4300	6498	SO:0001583	missense	9798				cell cycle|cell division	cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment	protein binding	g.chr16:71954709G>A	BC004359	CCDS10905.1, CCDS59271.1, CCDS59272.1, CCDS59273.1, CCDS59274.1	16q22.2	2011-08-18	2011-08-18	2011-08-18	ENSG00000182149	ENSG00000182149			28977	protein-coding gene	gene with protein product			"KIAA0174"	KIAA0174		8724849, 19129480	Standard	NM_001270975		Approved		uc002fbm.2	P53990	OTTHUMG00000137597	ENST00000378799.6:c.425G>A	16.37:g.71954709G>A	ENSP00000368076:p.Gly142Glu					IST1_ENST00000329908.8_Missense_Mutation_p.G142E|IST1_ENST00000544564.1_Missense_Mutation_p.G142E|IST1_ENST00000541571.2_Missense_Mutation_p.G142E|IST1_ENST00000538850.1_5'UTR|IST1_ENST00000538565.1_Intron|IST1_ENST00000535424.1_Missense_Mutation_p.G155E|IST1_ENST00000378798.5_Missense_Mutation_p.G142E|IST1_ENST00000606369.1_Intron|RP11-498D10.5_ENST00000567146.1_RNA	p.G142E	NM_001270975.1	NP_001257904.1	P53990	IST1_HUMAN			5	781	+			142			Interaction with CHMP1A and CHMP1B.|Interaction with VPS37B.		A8KAH5|J3QLU7|Q3SYM4|Q9BQ81|Q9BWN2	Missense_Mutation	SNP	ENST00000378799.6	37	c.425G>A	CCDS59272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.16|16.16	3.045818|3.045818	0.55110|0.55110	.|.	.|.	ENSG00000182149|ENSG00000182149	ENST00000541848|ENST00000535424;ENST00000378799;ENST00000424485;ENST00000538963;ENST00000329908;ENST00000378798;ENST00000456820	.|.	.|.	.|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|Domain of unknown function DUF292, eukaryotic (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.63581|0.63581	0.2523|0.2523	N|N	0.17594|0.17594	0.5|0.5	0.80722|0.80722	D|D	1|1	.|D;D;P;D	.|0.89917	.|1.0;1.0;0.542;0.999	.|D;D;B;D	.|0.76575	.|0.988;0.982;0.213;0.983	T|T	0.61212|0.61212	-0.7108|-0.7108	5|9	.|0.28530	.|T	.|0.3	-14.5355|-14.5355	19.9677|19.9677	0.97275|0.97275	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|142;142;142;155	.|P53990;P53990-2;P53990-3;A8KAH5	.|IST1_HUMAN;.;.;.	K|E	29|155;142;138;131;142;142;80	.|.	.|ENSP00000330408:G142E	E|G	+|+	1|2	0|0	KIAA0174|KIAA0174	70512210|70512210	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.807000|9.807000	0.99171|0.99171	2.727000|2.727000	0.93392|0.93392	0.650000|0.650000	0.86243|0.86243	GAA|GGA		0.413	IST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269005.2	NM_014761		3	83	0	0	0	0.004672	0	3	83					A	71954709	G	A	71954709	3	1	277	1	0	0	0	0	1	0	0	0	8158	1174	41	2	439	2	KIAA0174	16	71954709	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	59833515	71954709	18400044	41	6008											
SLC16A13	201232	broad.mit.edu	37	chr17	6939881	6939881	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggatcgcctccataggaatCgcggtgcagcagtttgggag	15	9	0	0			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr17:6939881C>T	ENST00000308027.6	+	1	488	c.180C>T	c.(178-180)atC>atT	p.I60I		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	60						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						CCATAGGAATCGCGGTGCAGC	0.637																																						ENST00000308027.6																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						c.(178-180)atC>atT		solute carrier family 16, member 13							46	48	47					17																	6939881		2203	4300	6503	SO:0001819	synonymous_variant	201232					integral to membrane|plasma membrane	symporter activity	g.chr17:6939881C>T	BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"Solute carriers"	31037	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 13"		"solute carrier family 16 (monocarboxylic acid transporters), member 13"				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.180C>T	17.37:g.6939881C>T							p.I60I	NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN			1	488	+			60					A3KMG3|A5PKU5|Q2VP92	Silent	SNP	ENST00000308027.6	37	c.180C>T	CCDS11085.1																																																																																				0.637	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219923.2			5	42	0	0	0	0.014758	0	5	42					T	6939881	C	T	6939881	2	4	277	1	0	0	0	0	0	0	0	1	14406	874	31	1		1	SLC16A13	17	6939881	Silent	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08		6939881	74255329	42	6009											
TP53	7157	broad.mit.edu	37	chr17	7578275	7578275	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttccactcggataagatgctGaggaggggccagacctaaga	13	9	0	4			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr17:7578275G>A	ENST00000269305.4	-	6	763	c.574C>T	c.(574-576)Cag>Tag	p.Q192*	TP53_ENST00000455263.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q192*	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	192	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		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.Q192*(83)|p.0?(8)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191del(4)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(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)	ATAAGATGCTGAGGAGGGGCC	0.557		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"		144	Substitution - Nonsense(95)|Deletion - In frame(19)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(6)|Unknown(6)|Insertion - Frameshift(1)|Complex - frameshift(1)|Substitution - Missense(1)	p.Q192*(83)|p.0?(8)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191del(4)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(1)	breast(26)|ovary(20)|urinary_tract(15)|lung(12)|upper_aerodigestive_tract(10)|skin(8)|biliary_tract(7)|oesophagus(7)|large_intestine(6)|kidney(6)|stomach(5)|haematopoietic_and_lymphoid_tissue(5)|liver(5)|bone(4)|central_nervous_system(3)|pancreas(2)|cervix(1)|endometrium(1)|eye(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						c.(574-576)Cag>Tag	Other conserved DNA damage response genes	tumor protein p53							89	80	83					17																	7578275		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7578275G>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.574C>T	17.37:g.7578275G>A	ENSP00000269305:p.Gln192*	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_ENST00000445888.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q192*	p.Q192*	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	706	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	192		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.574C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.269040	0.40095	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	3.36	0.38483	.	0.242461	0.43260	D	0.000594	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-22.6404	8.6971	0.34303	0.0:0.1484:0.545:0.3066	.	.	.	.	X	192;192;192;192;192;192;181;99;60;99;60	.	ENSP00000269305:Q192X	Q	-	1	0	TP53	7519000	1.000000	0.71417	0.987000	0.45799	0.035000	0.12851	2.163000	0.42377	0.732000	0.32470	0.655000	0.94253	CAG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		9	26	0	0	0	0.004482	0	9	26					A	7578275	G	A	7578275	4	1	277	1	0	0	0	0	0	1	0	0	16378	1299	45	2	720	2	TP53	17	7578275	Nonsense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	638394	7578275	73616935	43	6010											
PCGF2	7703	broad.mit.edu	37	chr17	36896590	36896590	+	Silent	SNP	C	C	T													gtggcgtcgatgaagtacccCccgcagagggcacacatgag							TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr17:36896590C>T	ENST00000580830.1	-	4	767	c.66G>A	c.(64-66)ggG>ggA	p.G22G	PCGF2_ENST00000360797.2_Silent_p.G22G|PCGF2_ENST00000579882.1_Silent_p.G22G|PCGF2_ENST00000581345.1_Silent_p.G22G|PCGF2_ENST00000578109.1_Intron|PCGF2_ENST00000585100.1_Silent_p.G22G			P35227	PCGF2_HUMAN	polycomb group ring finger 2	22					anterior/posterior pattern specification (GO:0009952)|cellular response to hydrogen peroxide (GO:0070301)|embryonic skeletal system morphogenesis (GO:0048704)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					TGAAGTACCCCCCGCAGAGGG	0.627																																						ENST00000580830.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(64-66)ggG>ggA		polycomb group ring finger 2							111	106	108					17																	36896590		2203	4300	6503	SO:0001819	synonymous_variant	7703				negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:36896590C>T	D13969	CCDS32638.1	17q12	2013-01-09	2005-01-17	2005-01-19		ENSG00000277258		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	12929	protein-coding gene	gene with protein product		600346	"ring finger protein 110"	ZNF144, RNF110		8325509	Standard	NM_007144		Approved	MEL-18	uc002hqp.1	P35227		ENST00000580830.1:c.66G>A	17.37:g.36896590C>T						PCGF2_ENST00000578109.1_Intron|PCGF2_ENST00000579882.1_Silent_p.G22G|PCGF2_ENST00000585100.1_Silent_p.G22G|PCGF2_ENST00000360797.2_Silent_p.G22G|PCGF2_ENST00000581345.1_Silent_p.G22G	p.G22G			P35227	PCGF2_HUMAN			4	767	-	Breast(7;9.07e-22)		22					A6NGD8	Silent	SNP	ENST00000580830.1	37	c.66G>A	CCDS32638.1																																																																																				0.627	PCGF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442246.2	NM_007144		10	57	0	0	0	0.016723	0	10	57					T	36896590	C	T	36896590	2	4	277	1	0	0	0	0	0	0	0	1	11575	610	22	2		2	PCGF2	17	36896590	Silent	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08	29318315	36896590	44298620	44	6011	31	2									
PCGF2	7703	broad.mit.edu	37	chr17	36896591	36896591	+	Missense_Mutation	SNP	C	C	T													tggcgtcgatgaagtaccccCcgcagagggcacacatgagg							TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr17:36896591C>T	ENST00000580830.1	-	4	766	c.65G>A	c.(64-66)gGg>gAg	p.G22E	PCGF2_ENST00000360797.2_Missense_Mutation_p.G22E|PCGF2_ENST00000579882.1_Missense_Mutation_p.G22E|PCGF2_ENST00000581345.1_Missense_Mutation_p.G22E|PCGF2_ENST00000578109.1_Intron|PCGF2_ENST00000585100.1_Missense_Mutation_p.G22E			P35227	PCGF2_HUMAN	polycomb group ring finger 2	22					anterior/posterior pattern specification (GO:0009952)|cellular response to hydrogen peroxide (GO:0070301)|embryonic skeletal system morphogenesis (GO:0048704)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					GAAGTACCCCCCGCAGAGGGC	0.622																																						ENST00000580830.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(64-66)gGg>gAg		polycomb group ring finger 2							111	106	108					17																	36896591		2203	4300	6503	SO:0001583	missense	7703				negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:36896591C>T	D13969	CCDS32638.1	17q12	2013-01-09	2005-01-17	2005-01-19		ENSG00000277258		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	12929	protein-coding gene	gene with protein product		600346	"ring finger protein 110"	ZNF144, RNF110		8325509	Standard	NM_007144		Approved	MEL-18	uc002hqp.1	P35227		ENST00000580830.1:c.65G>A	17.37:g.36896591C>T	ENSP00000461961:p.Gly22Glu					PCGF2_ENST00000578109.1_Intron|PCGF2_ENST00000579882.1_Missense_Mutation_p.G22E|PCGF2_ENST00000585100.1_Missense_Mutation_p.G22E|PCGF2_ENST00000360797.2_Missense_Mutation_p.G22E|PCGF2_ENST00000581345.1_Missense_Mutation_p.G22E	p.G22E			P35227	PCGF2_HUMAN			4	766	-	Breast(7;9.07e-22)		22					A6NGD8	Missense_Mutation	SNP	ENST00000580830.1	37	c.65G>A	CCDS32638.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041389	0.75732	.	.	ENSG00000056661	ENST00000360797	D	0.85861	-2.04	5.2	5.2	0.72013	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.206931	0.40554	N	0.001062	D	0.84179	0.5415	L	0.27975	0.815	0.46011	D	0.998814	P	0.51240	0.943	P	0.57009	0.811	T	0.79734	-0.1679	10	0.15066	T	0.55	-22.9307	16.2761	0.82644	0.0:1.0:0.0:0.0	.	22	P35227	PCGF2_HUMAN	E	22	ENSP00000354033:G22E	ENSP00000354033:G22E	G	-	2	0	PCGF2	34150117	0.988000	0.35896	0.998000	0.56505	0.860000	0.49131	2.999000	0.49473	2.702000	0.92279	0.462000	0.41574	GGG		0.622	PCGF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442246.2	NM_007144		11	57	0	0	0	0.020292	0	11	57					T	36896591	C	T	36896591	3	4	277	1	0	0	0	0	1	0	0	0	11575	623	22	2	1005	2	PCGF2	17	36896591	Missense_Mutation	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08	1	36896591	44298619	45	6012	31	2									
ITGA3	3675	broad.mit.edu	37	chr17	48156836	48156836	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcatccccacagcgcaggcGgcgacagctggatccagggg	14	14	1	0			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr17:48156836G>T	ENST00000320031.8	+	21	2951	c.2621G>T	c.(2620-2622)cGg>cTg	p.R874L	ITGA3_ENST00000007722.7_Missense_Mutation_p.R874L	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	874					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						CAGCGCAGGCGGCGACAGCTG	0.627																																						ENST00000320031.8																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						c.(2620-2622)cGg>cTg		integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)							38	42	41					17																	48156836		2202	4299	6501	SO:0001583	missense	3675				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	g.chr17:48156836G>T	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"CD molecules", "Integrins"	6139	protein-coding gene	gene with protein product		605025	"antigen identified by monoclonal antibody J143"	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.2621G>T	17.37:g.48156836G>T	ENSP00000315190:p.Arg874Leu					ITGA3_ENST00000007722.7_Missense_Mutation_p.R874L	p.R874L	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN			21	2951	+			874					A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	c.2621G>T	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.431169	0.62844	.	.	ENSG00000005884	ENST00000007722;ENST00000538917;ENST00000320031	T;T	0.50277	0.75;0.75	4.79	4.79	0.61399	Integrin alpha-2 (1);	0.058114	0.64402	D	0.000003	T	0.56717	0.2004	M	0.72118	2.19	0.80722	D	1	D;B	0.52996	0.957;0.177	P;B	0.54544	0.755;0.069	T	0.57148	-0.7861	10	0.42905	T	0.14	.	8.8749	0.35339	0.0995:0.0:0.9005:0.0	.	874;874	P26006-1;P26006	.;ITA3_HUMAN	L	874;860;874	ENSP00000007722:R874L;ENSP00000315190:R874L	ENSP00000007722:R874L	R	+	2	0	ITGA3	45511835	0.985000	0.35326	0.928000	0.36995	0.917000	0.54804	2.363000	0.44178	2.486000	0.83907	0.313000	0.20887	CGG		0.627	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		4	66	1	0	0.00909568	0.009096	0.00952881	4	66					T	48156836	G	T	48156836	3	4	277	1	0	0	0	0	1	0	0	0	7877	1116	39	4	2703	4	ITGA3	17	48156836	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	11260245	48156836	33038374	46	6013											
NAPG	8774	broad.mit.edu	37	chr18	10526109	10526109	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgactgtggagatggcggctCagaagataaacgaggggctg	17	6	1	4			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr18:10526109C>T	ENST00000322897.6	+	1	79	c.10C>T	c.(10-12)Cag>Tag	p.Q4*	NAPG_ENST00000542979.1_5'UTR	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma	4					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)				large_intestine(2)|lung(2)	4						GATGGCGGCTCAGAAGATAAA	0.597																																						ENST00000322897.6																			0				large_intestine(2)|lung(2)	4						c.(10-12)Cag>Tag		N-ethylmaleimide-sensitive factor attachment protein, gamma							48	57	54					18																	10526109		1962	4142	6104	SO:0001587	stop_gained	8774				cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding	g.chr18:10526109C>T	U78107	CCDS45827.1	18p11.21	2013-02-28			ENSG00000134265	ENSG00000134265			7642	protein-coding gene	gene with protein product	"gamma SNAP"	603216				9269766	Standard	NM_003826		Approved		uc002kon.3	Q99747	OTTHUMG00000179119	ENST00000322897.6:c.10C>T	18.37:g.10526109C>T	ENSP00000324628:p.Gln4*					NAPG_ENST00000542979.1_5'UTR	p.Q4*	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN			1	79	+			4					B4DFC9|Q9BUV1	Nonsense_Mutation	SNP	ENST00000322897.6	37	c.10C>T	CCDS45827.1	.	.	.	.	.	.	.	.	.	.	C	39	7.561878	0.98358	.	.	ENSG00000134265	ENST00000322897	.	.	.	5.15	5.15	0.70609	.	0.111193	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.9878	16.1089	0.81244	0.0:1.0:0.0:0.0	.	.	.	.	X	4	.	ENSP00000324628:Q4X	Q	+	1	0	NAPG	10516109	1.000000	0.71417	0.978000	0.43139	0.956000	0.61745	5.979000	0.70508	2.392000	0.81423	0.555000	0.69702	CAG		0.597	NAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444873.1	NM_003826		3	28	0	0	0	0.004672	0	3	28					T	10526109	C	T	10526109	4	4	277	1	0	0	0	0	0	1	0	0	10164	827	29	2	12	2	NAPG	18	10526109	Nonsense_Mutation	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08		10526109	67551139	47	6014											
ZNF91	7644	broad.mit.edu	37	chr19	23544777	23544777	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcttatgtttagcaagggttGaagaacggctaaaagctttg	11	5	1	2			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr19:23544777G>A	ENST00000300619.7	-	4	1209	c.1004C>T	c.(1003-1005)tCa>tTa	p.S335L	ZNF91_ENST00000397082.2_Missense_Mutation_p.S303L|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	335					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AGCAAGGGTTGAAGAACGGCT	0.383																																						ENST00000300619.7																			0											c.(1003-1005)tCa>tTa		zinc finger protein 91							71	74	73					19																	23544777		2114	4253	6367	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544777G>A	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"Zinc fingers, C2H2-type", "-"	13166	protein-coding gene	gene with protein product		603971	"zinc finger protein 91 (HPF7, HTF10)"			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.1004C>T	19.37:g.23544777G>A	ENSP00000300619:p.Ser335Leu					ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.S303L	p.S335L	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	1209	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	335					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.1004C>T	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	G	7.068	0.567820	0.13560	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.01705	4.68;4.68	1.41	1.41	0.22369	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03011	0.0089	M	0.76002	2.32	0.09310	N	1	P;P	0.40282	0.711;0.604	B;B	0.39068	0.289;0.22	T	0.36625	-0.9740	9	0.66056	D	0.02	.	5.4987	0.16817	0.1923:0.0:0.8077:0.0	.	303;335	Q05481-2;Q05481	.;ZNF91_HUMAN	L	335;303	ENSP00000300619:S335L;ENSP00000380272:S303L	ENSP00000300619:S335L	S	-	2	0	ZNF91	23336617	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.123000	0.10611	1.100000	0.41517	0.162000	0.16502	TCA		0.383	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		20	75	0	0	0	0.043863	0	20	75					A	23544777	G	A	23544777	3	1	277	1	0	0	0	0	1	0	0	0	18197	1294	45	2	2575	2	ZNF91	19	23544777	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08		23544777	35584206	48	6015											
IL29	282618	broad.mit.edu	37	chr19	39787080	39787080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatggctgcagcttggaccGtggtgctggtgactttggtg	16	9	0	1			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr19:39787080G>A	ENST00000333625.2	+	1	116	c.19G>A	c.(19-21)Gtg>Atg	p.V7M		NM_172140.1	NP_742152.1	Q8IU54	IFNL1_HUMAN	interferon, lambda 1	7					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of cell proliferation (GO:0008285)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of memory T cell differentiation (GO:0043381)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of immune response (GO:0050778)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-28 receptor complex (GO:0032002)	interleukin-28 receptor binding (GO:0032003)|receptor binding (GO:0005102)										AGCTTGGACCGTGGTGCTGGT	0.567																																						ENST00000333625.2																			0											c.(19-21)Gtg>Atg		interferon, lambda 1							117	104	108					19																	39787080		2203	4300	6503	SO:0001583	missense	282618							g.chr19:39787080G>A	AY129150	CCDS12531.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000182393	ENSG00000182393		"Interferons"	18363	protein-coding gene	gene with protein product		607403	"interleukin 29", "interleukin 29 (interferon, lambda 1)"	IL29			Standard	NM_172140		Approved	IL-29	uc002okv.3	Q8IU54		ENST00000333625.2:c.19G>A	19.37:g.39787080G>A	ENSP00000329991:p.Val7Met						p.V7M	NM_172140.1	NP_742152.1					1	116	+								A0AV25|Q17R34	Missense_Mutation	SNP	ENST00000333625.2	37	c.19G>A	CCDS12531.1	.	.	.	.	.	.	.	.	.	.	g	11.47	1.647561	0.29246	.	.	ENSG00000182393	ENST00000333625	T	0.15487	2.42	3.71	2.65	0.31530	.	1.513180	0.04370	N	0.358921	T	0.12347	0.0300	L	0.36672	1.1	0.09310	N	1	P	0.41673	0.759	B	0.26969	0.075	T	0.31943	-0.9925	10	0.34782	T	0.22	-3.5037	8.8016	0.34912	0.0:0.7153:0.2847:0.0	.	7	Q8IU54	IL29_HUMAN	M	7	ENSP00000329991:V7M	ENSP00000329991:V7M	V	+	1	0	IL29	44478920	0.000000	0.05858	0.008000	0.14137	0.505000	0.33919	-0.318000	0.08050	0.764000	0.33197	0.450000	0.29827	GTG		0.567	IFNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463834.1	NM_172140		19	60	0	0	0	0.012319	0	19	60					A	39787080	G	A	39787080	3	1	277	1	0	0	0	0	1	0	0	0	7685	1145	40	1	21	1	IL29	19	39787080	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	16242303	39787080	19341903	49	6016											
DCX	1641	broad.mit.edu	37	chrX	110653602	110653602	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggatgtcttatctctttcgtCaaagtgtccaaaatcaagtt	7	8	4	0			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chrX:110653602C>A	ENST00000338081.3	-	2	439	c.268G>T	c.(268-270)Gac>Tac	p.D90Y	DCX_ENST00000371993.2_Missense_Mutation_p.D9Y|DCX_ENST00000356915.2_Missense_Mutation_p.D9Y|DCX_ENST00000488120.1_Missense_Mutation_p.D9Y|DCX_ENST00000356220.3_Missense_Mutation_p.D9Y|DCX_ENST00000496551.1_5'UTR	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	90					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						TCTCTTTCGTCAAAGTGTCCA	0.507																																						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.(268-270)Gac>Tac		doublecortin							105	96	99					X																	110653602		2203	4300	6503	SO:0001583	missense	1641				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	g.chrX:110653602C>A	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.268G>T	X.37:g.110653602C>A	ENSP00000337697:p.Asp90Tyr					DCX_ENST00000356915.2_Missense_Mutation_p.D9Y|DCX_ENST00000356220.3_Missense_Mutation_p.D9Y|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000488120.1_Missense_Mutation_p.D9Y|DCX_ENST00000371993.2_Missense_Mutation_p.D9Y	p.D90Y	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN			2	439	-			90					A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	37	c.268G>T	CCDS14556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.3|23.3	4.402444|4.402444	0.83230|0.83230	.|.	.|.	ENSG00000077279|ENSG00000077279	ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120;ENST00000468911|ENST00000358070	T;T;T;T;T;T|.	0.52754|.	1.5;1.5;1.38;1.5;1.5;0.65|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59197|0.59197	0.2176|0.2176	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.77557|.	0.99;0.99|.	T|T	0.54050|0.54050	-0.8351|-0.8351	10|5	0.87932|.	D|.	0|.	.|.	18.1845|18.1845	0.89789|0.89789	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	78;90|.	B4DM53;O43602|.	.;DCX_HUMAN|.	Y|F	9;9;90;9;9;9|81	ENSP00000349385:D9Y;ENSP00000361061:D9Y;ENSP00000337697:D90Y;ENSP00000348553:D9Y;ENSP00000419861:D9Y;ENSP00000418811:D9Y|.	ENSP00000337697:D90Y|.	D|L	-|-	1|3	0|2	DCX|DCX	110540258|110540258	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.651000|7.651000	0.83577|0.83577	2.487000|2.487000	0.83934|0.83934	0.513000|0.513000	0.50165|0.50165	GAC|TTG		0.507	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153		27	112	1	0	1.16021e-09	0.034045	1.32595e-09	27	112					A	110653602	C	A	110653602	3	1	277	1	0	0	0	0	1	0	0	0	4318	826	29	4	1096	4	DCX	23	110653602	Missense_Mutation	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08		110653602	44616958	50	6017											
CT47B1	643311	broad.mit.edu	37	chrX	120008779	120008779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacggcctcctctgaggtcGgttcctctgcggccggttcc	12	17	2	1			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chrX:120008779G>A	ENST00000371311.3	-	1	1000	c.746C>T	c.(745-747)cCg>cTg	p.P249L		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	249										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CTCTGAGGTCGGTTCCTCTGC	0.692																																						ENST00000371311.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						c.(745-747)cCg>cTg		cancer/testis antigen family 47, member B1							40	37	38					X																	120008779		692	1590	2282	SO:0001583	missense	643311							g.chrX:120008779G>A		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"cancer/testis CT47 family, member 13"	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.746C>T	X.37:g.120008779G>A	ENSP00000360360:p.Pro249Leu						p.P249L	NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN			1	1000	-			249					A6NM97	Missense_Mutation	SNP	ENST00000371311.3	37	c.746C>T	CCDS48161.1	.	.	.	.	.	.	.	.	.	.	G	8.643	0.896532	0.17686	.	.	ENSG00000236446	ENST00000371311	.	.	.	1.43	-0.162	0.13367	.	.	.	.	.	T	0.20210	0.0486	L	0.32530	0.975	0.09310	N	1	B	0.31989	0.35	B	0.15870	0.014	T	0.15435	-1.0437	8	0.72032	D	0.01	.	3.4761	0.07585	0.4483:0.0:0.5517:0.0	.	249	P0C2W7	CT47B_HUMAN	L	249	.	ENSP00000360360:P249L	P	-	2	0	CT47B1	119892807	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	0.161000	0.16481	-0.095000	0.12351	0.171000	0.16805	CCG		0.692	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		55	100	0	0	0	0.01441	0	55	100					A	120008779	G	A	120008779	3	1	277	1	0	0	0	0	1	0	0	0	3989	1116	39	1	161	1	CT47B1	23	120008779	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	9355177	120008779	35261781	51	6018											
GABRA3	2556	broad.mit.edu	37	chrX	151336929	151336929	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cactgggagcagcgcccttgGagatggtggaaaattcagtg	15	8	1	1			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chrX:151336929G>T	ENST00000370314.4	-	10	1488	c.1250C>A	c.(1249-1251)tCc>tAc	p.S417Y	GABRA3_ENST00000535043.1_Missense_Mutation_p.S417Y|RP11-329E24.6_ENST00000453915.1_RNA	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	417					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				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)|Zolpidem(DB00425)|Zopiclone(DB01198)	AGCGCCCTTGGAGATGGTGGA	0.557																																					NSCLC(142;2578 2613 10251 16743)	ENST00000370314.4																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37						c.(1249-1251)tCc>tAc		gamma-aminobutyric acid (GABA) A receptor, alpha 3	Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						288	235	253					X																	151336929		2203	4300	6503	SO:0001583	missense	2556				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chrX:151336929G>T		CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4077	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 3"	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.1250C>A	X.37:g.151336929G>T	ENSP00000359337:p.Ser417Tyr					RP11-329E24.6_ENST00000453915.1_RNA|GABRA3_ENST00000370311.1_Missense_Mutation_p.S417Y|GABRA3_ENST00000535043.1_Missense_Mutation_p.S417Y	p.S417Y	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN			10	1488	-	Acute lymphoblastic leukemia(192;6.56e-05)		417					Q8TAF9	Missense_Mutation	SNP	ENST00000370314.4	37	c.1250C>A	CCDS14706.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128935	0.77549	.	.	ENSG00000011677	ENST00000370314;ENST00000370311;ENST00000535043	D;D;D	0.82167	-1.58;-1.58;-1.58	4.71	4.71	0.59529	Neurotransmitter-gated ion-channel transmembrane domain (1);	1.029980	0.07604	N	0.924197	D	0.84973	0.5591	L	0.39245	1.2	0.51482	D	0.999923	D	0.55385	0.971	P	0.52109	0.69	T	0.80039	-0.1549	10	0.72032	D	0.01	.	14.4152	0.67145	0.0:0.0:1.0:0.0	.	417	P34903	GBRA3_HUMAN	Y	417	ENSP00000359337:S417Y;ENSP00000359334:S417Y;ENSP00000443527:S417Y	ENSP00000359334:S417Y	S	-	2	0	GABRA3	151087585	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.748000	0.98867	2.069000	0.61940	0.597000	0.82753	TCC		0.557	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060921.1	NM_000808		7	248	1	0	0.00198382	0.02938	0.00210333	7	248					T	151336929	G	T	151336929	3	4	277	1	0	0	0	0	1	0	0	0	6162	1174	41	4	232	4	GABRA3	23	151336929	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	31328150	151336929	3933631	52	6019											
LPHN2	23266	broad.mit.edu	37	chr1	82436030	82436030	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atatttgcaggacttctacaCtttttctttttggcagcttt	6	8	2	0			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr1:82436030C>G	ENST00000370728.1	+	18	3399	c.2754C>G	c.(2752-2754)caC>caG	p.H918Q	LPHN2_ENST00000370715.1_Missense_Mutation_p.H905Q|LPHN2_ENST00000359929.3_Missense_Mutation_p.H905Q|LPHN2_ENST00000370721.1_Missense_Mutation_p.H843Q|LPHN2_ENST00000370717.2_Missense_Mutation_p.H918Q|LPHN2_ENST00000370713.1_Missense_Mutation_p.H905Q|LPHN2_ENST00000394879.1_Missense_Mutation_p.H905Q|LPHN2_ENST00000319517.6_Missense_Mutation_p.H905Q|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000271029.4_Missense_Mutation_p.H918Q|LPHN2_ENST00000370725.1_Missense_Mutation_p.H918Q|LPHN2_ENST00000370723.1_Missense_Mutation_p.H905Q|LPHN2_ENST00000335786.5_Missense_Mutation_p.H918Q|LPHN2_ENST00000370730.1_Missense_Mutation_p.H918Q|LPHN2_ENST00000370727.1_Missense_Mutation_p.H918Q			O95490	LPHN2_HUMAN	latrophilin 2	918					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GACTTCTACACTTTTTCTTTT	0.353																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(2752-2754)caC>caG		latrophilin 2							148	146	147					1																	82436030		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82436030C>G	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.2754C>G	1.37:g.82436030C>G	ENSP00000359763:p.His918Gln					LPHN2_ENST00000394879.1_Missense_Mutation_p.H905Q|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Missense_Mutation_p.H905Q|LPHN2_ENST00000335786.5_Missense_Mutation_p.H918Q|LPHN2_ENST00000370721.1_Missense_Mutation_p.H843Q|LPHN2_ENST00000370717.2_Missense_Mutation_p.H918Q|LPHN2_ENST00000370723.1_Missense_Mutation_p.H905Q|LPHN2_ENST00000370725.1_Missense_Mutation_p.H918Q|LPHN2_ENST00000370727.1_Missense_Mutation_p.H918Q|LPHN2_ENST00000370713.1_Missense_Mutation_p.H905Q|LPHN2_ENST00000359929.3_Missense_Mutation_p.H905Q|LPHN2_ENST00000271029.4_Missense_Mutation_p.H918Q|LPHN2_ENST00000370730.1_Missense_Mutation_p.H918Q|LPHN2_ENST00000370715.1_Missense_Mutation_p.H905Q	p.H918Q			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	18	3399	+			918					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.2754C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.48|15.48	2.846504|2.846504	0.51164|0.51164	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.46063|.	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88|.	5.72|5.72	3.85|3.85	0.44370|0.44370	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69531|0.69531	0.3121|0.3121	M|M	0.88241|0.88241	2.94|2.94	0.52501|0.52501	D|D	0.999959|0.999959	D;D;D|.	0.65815|.	0.995;0.987;0.991|.	D;P;D|.	0.68765|.	0.96;0.833;0.96|.	T|T	0.74281|0.74281	-0.3716|-0.3716	10|5	0.59425|.	D|.	0.04|.	.|.	9.0623|9.0623	0.36442|0.36442	0.0:0.7804:0.0:0.2196|0.0:0.7804:0.0:0.2196	.|.	905;905;905|.	O95490-3;O95490-4;O95490-2|.	.;.;.|.	Q|S	843;918;918;918;918;905;905;905;905;905;918;905;918;918|786	ENSP00000359756:H843Q;ENSP00000359763:H918Q;ENSP00000359765:H918Q;ENSP00000359762:H918Q;ENSP00000359760:H918Q;ENSP00000359758:H905Q;ENSP00000353006:H905Q;ENSP00000359750:H905Q;ENSP00000359748:H905Q;ENSP00000322270:H905Q;ENSP00000359752:H918Q;ENSP00000378344:H905Q;ENSP00000271029:H918Q;ENSP00000337306:H918Q|.	ENSP00000271029:H918Q|.	H|T	+|+	3|2	2|0	LPHN2|LPHN2	82208618|82208618	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	1.445000|1.445000	0.35079|0.35079	1.418000|1.418000	0.47098|0.47098	0.591000|0.591000	0.81541|0.81541	CAC|ACT		0.353	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		43	69	0	0	0	0.045515	0	43	69					G	82436030	C	G	82436030	3	3	278	1	0	0	0	0	1	0	0	0	8916	564	20	4	2765	4	LPHN2	1	82436030	Missense_Mutation	SNP	C	TCGA-EM-A1YC-01A-11D-A14W-08		82436030	166814591	1	6020											
SH3RF3	344558	broad.mit.edu	37	chr2	110036027	110036027	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggcgggatctacccccacGgctgtcccacgggctgcctc	12	18	1	0	rs368091662	byFrequency	TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr2:110036027G>A	ENST00000309415.6	+	5	1332	c.1332G>A	c.(1330-1332)acG>acA	p.T444T		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	444							zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						CTACCCCCACGGCTGTCCCAC	0.612													G|||	4	0.000798722	0	0	5008	,	,		17427	0		0	False		,,,				2504	0.0041					ENST00000309415.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						c.(1330-1332)acG>acA		SH3 domain containing ring finger 3		G		0,4044		0,0,2022	29	33	32		1332	-1.9	0.0	2		32	1,8359		0,1,4179	no	coding-synonymous	SH3RF3	NM_001099289.1		0,1,6201	AA,AG,GG		0.012,0.0,0.0081		444/883	110036027	1,12403	2022	4180	6202	SO:0001819	synonymous_variant	344558						zinc ion binding	g.chr2:110036027G>A	AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"RING-type (C3HC4) zinc fingers"	24699	protein-coding gene	gene with protein product			"SH3 multiple domains 4"	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.1332G>A	2.37:g.110036027G>A							p.T444T	NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN			5	1332	+			444					A0SDZ7|A8MPR1|Q8NDU1	Silent	SNP	ENST00000309415.6	37	c.1332G>A																																																																																					0.612	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289		2	3	0	0	0	0.004672	0	2	3					A	110036027	G	A	110036027	2	1	278	1	0	0	0	0	0	0	0	1	14260	1103	39	1		1	SH3RF3	2	110036027	Silent	SNP	G	TCGA-EM-A1YC-01A-11D-A14W-08		110036027	133163346	2	6021											
CDCP1	64866	broad.mit.edu	37	chr3	45135081	45135081	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcatgcagctccacaggcaGgtggaggatgtcactgggca	15	10	2	0			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr3:45135081G>A	ENST00000296129.1	-	6	1449	c.1315C>T	c.(1315-1317)Ctg>Ttg	p.L439L		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	439	CUB.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TCCACAGGCAGGTGGAGGATG	0.592																																						ENST00000296129.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29						c.(1315-1317)Ctg>Ttg		CUB domain containing protein 1							123	115	118					3																	45135081		2203	4300	6503	SO:0001819	synonymous_variant	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45135081G>A	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"CD molecules"	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.1315C>T	3.37:g.45135081G>A							p.L439L	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	6	1449	-			439			CUB.		Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Silent	SNP	ENST00000296129.1	37	c.1315C>T	CCDS2727.1																																																																																				0.592	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		8	117	0	0	0	0.004482	0	8	117					A	45135081	G	A	45135081	2	1	278	1	0	0	0	0	0	0	0	1	3093	991	35	2		2	CDCP1	3	45135081	Silent	SNP	G	TCGA-EM-A1YC-01A-11D-A14W-08		45135081	152887349	3	6022											
HAPLN1	1404	broad.mit.edu	37	chr5	82940234	82940234	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatctgcttttatctttatcCcaaaatccgtagttcctgac	4	11	2	1			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr5:82940234C>A	ENST00000274341.4	-	4	1573	c.723G>T	c.(721-723)tgG>tgT	p.W241C		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	241	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	TATCTTTATCCCAAAATCCGT	0.448																																						ENST00000274341.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34						c.(721-723)tgG>tgT		hyaluronan and proteoglycan link protein 1							63	69	67					5																	82940234		2203	4300	6503	SO:0001583	missense	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82940234C>A		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"Immunoglobulin superfamily / V-set domain containing"	2380	protein-coding gene	gene with protein product	"Cartilage link protein", "hyaluronan and proteoglycan link protein 1"	115435	"cartilage linking protein 1"	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.723G>T	5.37:g.82940234C>A	ENSP00000274341:p.Trp241Cys						p.W241C	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	4	1573	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	241			Link 1.		B2R9A9	Missense_Mutation	SNP	ENST00000274341.4	37	c.723G>T	CCDS4061.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911738	0.52439	.	.	ENSG00000145681	ENST00000274341;ENST00000510978	T;T	0.09255	3.0;3.0	5.5	5.5	0.81552	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.049974	0.85682	D	0.000000	T	0.07908	0.0198	N	0.08118	0	0.80722	D	1	P	0.43662	0.814	B	0.42386	0.386	T	0.21690	-1.0238	10	0.87932	D	0	.	14.0021	0.64439	0.0:0.9274:0.0:0.0726	.	241	P10915	HPLN1_HUMAN	C	241	ENSP00000274341:W241C;ENSP00000422592:W241C	ENSP00000274341:W241C	W	-	3	0	HAPLN1	82975990	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.092000	0.30927	2.733000	0.93635	0.650000	0.86243	TGG		0.448	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		12	90	1	0	0.00010058	0.013537	0.000135064	12	90					A	82940234	C	A	82940234	3	1	278	1	0	0	0	0	1	0	0	0	6954	624	22	4	349	4	HAPLN1	5	82940234	Missense_Mutation	SNP	C	TCGA-EM-A1YC-01A-11D-A14W-08		82940234	97975026	4	6023											
FLOT1	10211	broad.mit.edu	37	chr6	30707947	30707947	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctctgacctgaagctgataGgccaggtcagcctgtgctcg	13	12	2	3			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr6:30707947G>C	ENST00000376389.3	-	8	931	c.711C>G	c.(709-711)gcC>gcG	p.A237A	FLOT1_ENST00000470643.1_5'UTR|FLOT1_ENST00000456573.2_Silent_p.A189A|XXbac-BPG252P9.10_ENST00000607333.1_RNA	NM_005803.2	NP_005794.1	P41440	S19A1_HUMAN	flotillin 1	0					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13					Methotrexate(DB00563)|Pralatrexate(DB06813)	GAAGCTGATAGGCCAGGTCAG	0.557																																						ENST00000376389.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						c.(709-711)gcC>gcG		flotillin 1							93	70	78					6																	30707947		1511	2709	4220	SO:0001819	synonymous_variant	10211					centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction		g.chr6:30707947G>C	AF089750	CCDS4688.1	6p21.3	2010-02-17			ENSG00000137312	ENSG00000137312			3757	protein-coding gene	gene with protein product		606998					Standard	XM_005248780		Approved		uc003nrm.3	O75955	OTTHUMG00000031151	ENST00000376389.3:c.711C>G	6.37:g.30707947G>C						FLOT1_ENST00000456573.2_Silent_p.A189A|FLOT1_ENST00000470643.1_5'UTR	p.A237A	NM_005803.2	NP_005794.1	O75955	FLOT1_HUMAN			8	931	-			237					B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Silent	SNP	ENST00000376389.3	37	c.711C>G	CCDS4688.1																																																																																				0.557	FLOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076276.2			5	23	0	0	0	0.021553	0	5	23					C	30707947	G	C	30707947	2	2	278	1	0	0	0	0	0	0	0	1	5936	987	35	4		4	FLOT1	6	30707947	Silent	SNP	G	TCGA-EM-A1YC-01A-11D-A14W-08		30707947	140407120	5	6024											
AKR1D1	6718	broad.mit.edu	37	chr7	137792293	137792293	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggttgtcattcctaaaagCtttaatcttgaaaggatcaa	8	6	3	1			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr7:137792293C>T	ENST00000242375.3	+	7	864	c.822C>T	c.(820-822)agC>agT	p.S274S	AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000411726.2_Silent_p.S233S|AKR1D1_ENST00000432161.1_Silent_p.S274S	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	274					androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|C21-steroid hormone metabolic process (GO:0008207)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|steroid binding (GO:0005496)			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23					Azelaic Acid(DB00548)|Finasteride(DB01216)	TTCCTAAAAGCTTTAATCTTG	0.358																																						ENST00000242375.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						c.(820-822)agC>agT		aldo-keto reductase family 1, member D1							90	89	89					7																	137792293		2203	4300	6503	SO:0001819	synonymous_variant	6718				androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding	g.chr7:137792293C>T	Z28339	CCDS5846.1, CCDS55169.1, CCDS55170.1	7q32-q33	2012-12-04	2012-12-04		ENSG00000122787	ENSG00000122787	1.3.99.6	"Aldo-keto reductases"	388	protein-coding gene	gene with protein product	"delta 4-3-ketosteroid-5-beta-reductase"	604741	"aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)"	SRD5B1		7508385, 10343119	Standard	NM_005989		Approved		uc003vtz.3	P51857	OTTHUMG00000155787	ENST00000242375.3:c.822C>T	7.37:g.137792293C>T						AKR1D1_ENST00000411726.2_Silent_p.S233S|AKR1D1_ENST00000432161.1_Silent_p.S274S|AKR1D1_ENST00000468877.2_3'UTR	p.S274S	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN			7	864	+			274					A1L4P6|A8K060|B4DPN3|B4DPN8	Silent	SNP	ENST00000242375.3	37	c.822C>T	CCDS5846.1																																																																																				0.358	AKR1D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341637.1	NM_005989		7	150	0	0	0	0.02938	0	7	150					T	137792293	C	T	137792293	2	4	278	1	0	0	0	0	0	0	0	1	473	796	28	2		2	AKR1D1	7	137792293	Silent	SNP	C	TCGA-EM-A1YC-01A-11D-A14W-08		137792293	21346370	6	6025											
VLDLR	7436	broad.mit.edu	37	chr9	2635558	2635558	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agactgtgttgacggcagtgAtgaaaagaactgtggtaagt	14	4	0	5			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr9:2635558A>G	ENST00000382100.3	+	2	544	c.188A>G	c.(187-189)gAt>gGt	p.D63G	RP11-125B21.2_ENST00000599229.1_RNA|VLDLR_ENST00000382099.2_Missense_Mutation_p.D63G	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	63	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		GACGGCAGTGATGAAAAGAAC	0.373																																						ENST00000382100.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(187-189)gAt>gGt		very low density lipoprotein receptor							355	352	353					9																	2635558		2203	4300	6503	SO:0001583	missense	7436				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity	g.chr9:2635558A>G		CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"Low density lipoprotein receptors"	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.188A>G	9.37:g.2635558A>G	ENSP00000371532:p.Asp63Gly					VLDLR_ENST00000382099.2_Missense_Mutation_p.D63G|RP11-125B21.2_ENST00000599229.1_RNA	p.D63G	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN		GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)	2	544	+			63			LDL-receptor class A 1.		B2RMZ7|D3DRH6|Q5VVF6	Missense_Mutation	SNP	ENST00000382100.3	37	c.188A>G	CCDS6446.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.811618	0.90707	.	.	ENSG00000147852	ENST00000382100;ENST00000382096;ENST00000382099	D;D;D	0.99220	-5.58;-5.58;-5.58	5.96	5.96	0.96718	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.52532	D	0.000077	D	0.99729	0.9894	H	0.99238	4.48	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.96998	0.9727	10	0.87932	D	0	.	16.4277	0.83824	1.0:0.0:0.0:0.0	.	63;63;63	P98155-2;Q5VVF5;P98155	.;.;VLDLR_HUMAN	G	63	ENSP00000371532:D63G;ENSP00000371528:D63G;ENSP00000371531:D63G	ENSP00000371528:D63G	D	+	2	0	VLDLR	2625558	1.000000	0.71417	0.988000	0.46212	0.936000	0.57629	9.339000	0.96797	2.279000	0.76181	0.533000	0.62120	GAT		0.373	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	NM_003383		5	140	0	0	0	0.014758	0	5	140					G	2635558	A	G	2635558	3	3	278	1	0	0	0	0	1	0	0	0	17171	333	12	3	194	3	VLDLR	9	2635558	Missense_Mutation	SNP	A	TCGA-EM-A1YC-01A-11D-A14W-08		2635558	138577873	7	6026											
DNAJB5	25822	broad.mit.edu	37	chr9	34997244	34997244	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagatccttaagcagcacctAccctgttcctaggctctgcc	7	16	1	1			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr9:34997244A>C	ENST00000541010.1	+	3	4047	c.1035A>C	c.(1033-1035)ctA>ctC	p.L345L	DNAJB5_ENST00000545841.1_Silent_p.L345L|DNAJB5_ENST00000335998.3_Silent_p.L379L|DNAJB5_ENST00000312316.5_Silent_p.L345L|DNAJB5_ENST00000453597.3_Silent_p.L459L|DNAJB5_ENST00000454002.2_Silent_p.L417L			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	345					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			AGCAGCACCTACCCTGTTCCT	0.527																																						ENST00000541010.1																			0				kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(1033-1035)ctA>ctC		DnaJ (Hsp40) homolog, subfamily B, member 5							82	86	84					9																	34997244		2203	4300	6503	SO:0001819	synonymous_variant	25822				protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding	g.chr9:34997244A>C	AF088982	CCDS35007.1, CCDS47959.1, CCDS47960.1, CCDS47960.2	9p	2011-09-02			ENSG00000137094	ENSG00000137094		"Heat shock proteins / DNAJ (HSP40)"	14887	protein-coding gene	gene with protein product		611328				10570961, 11147971	Standard	NM_001135004		Approved	Hsc40	uc003zvs.4	O75953	OTTHUMG00000019840	ENST00000541010.1:c.1035A>C	9.37:g.34997244A>C						DNAJB5_ENST00000453597.3_Silent_p.L459L|DNAJB5_ENST00000335998.3_Silent_p.L379L|DNAJB5_ENST00000454002.2_Silent_p.L417L|DNAJB5_ENST00000545841.1_Silent_p.L345L|DNAJB5_ENST00000312316.5_Silent_p.L345L	p.L345L			O75953	DNJB5_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		3	4047	+			345					B3KN14|B4DSA6|J3KQM9|J3KR08|Q5T656|Q8TDR7|Q96EM4	Silent	SNP	ENST00000541010.1	37	c.1035A>C	CCDS35007.1																																																																																				0.527	DNAJB5-008	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401397.1			7	49	0	0	0	0.016723	0	7	49					C	34997244	A	C	34997244	2	2	278	1	0	0	0	0	0	0	0	1	4623	378	14	5		5	DNAJB5	9	34997244	Silent	SNP	A	TCGA-EM-A1YC-01A-11D-A14W-08	32361686	34997244	106216187	8	6027											
SHB	6461	broad.mit.edu	37	chr9	38068356	38068356	+	Frame_Shift_Del	DEL	T	T	-													gcgacgagccaggcccgttgTaggggtcctcgaagtctcgc							TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr9:38068356delT	ENST00000377707.3	-	1	852	c.287delA	c.(286-288)tacfs	p.Y96fs	SHB_ENST00000377700.4_Frame_Shift_Del_p.Y96fs|RP11-613M10.9_ENST00000540557.1_Frame_Shift_Del_p.Y96fs	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	96	Mediates interaction with LAT, PTK2/FAK1, JAK1 and JAK3.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		AGGCCCGTTGTAGGGGTCCTC	0.706																																						ENST00000377707.3																			0				central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11						c.(286-288)tcfs		Src homology 2 domain containing adaptor protein B							9	12	11					9																	38068356		1890	4118	6008	SO:0001589	frameshift_variant	6461				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity	g.chr9:38068356delT		CCDS43806.1	9p13.2	2013-09-23	2005-05-24		ENSG00000107338	ENSG00000107338		"SH2 domain containing"	10838	protein-coding gene	gene with protein product		600314	"SHB adaptor protein (a Src homology 2 protein)", "SHB (Src homology 2 domain containing) adaptor protein B"			7713524	Standard	NM_003028		Approved		uc004aax.3	Q15464	OTTHUMG00000019936	ENST00000377707.3:c.287delA	9.37:g.38068356delT	ENSP00000366936:p.Tyr96fs					RP11-613M10.9_ENST00000540557.1_Frame_Shift_Del_p.Y96fs|SHB_ENST00000377700.4_Frame_Shift_Del_p.Y96fs	p.Y96fs	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)	1	852	-		all_epithelial(88;0.122)	96			Mediates interaction with LAT, FAK1, JAK1 and JAK3.		B9EGM0|D3DRQ5|Q504U5|Q5VUM8	Frame_Shift_Del	DEL	ENST00000377707.3	37	c.287delA	CCDS43806.1																																																																																				0.706	SHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052490.1			2	4						2	4	---	---	---	---	-	38068356	T	-	38068356	7	5	278	1	0	1	0	1	0	0	0	0	14268	1638	57	0	1266	0	SHB	9	38068356	Frame_Shift_Del	DEL	T	TCGA-EM-A1YC-01A-11D-A14W-08	3071112	38068356	103145075	9	6028											
RUFY2	55680	broad.mit.edu	37	chr10	70164495	70164495	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaggggggatagtcagaAtccaaagtgcggccaaagct	14	8	1	1			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr10:70164495A>T	ENST00000602465.1	-	2	211	c.111T>A	c.(109-111)gaT>gaA	p.D37E	RUFY2_ENST00000454950.2_Intron|RUFY2_ENST00000388768.2_Missense_Mutation_p.D72E|RUFY2_ENST00000399200.2_Missense_Mutation_p.D37E|RUFY2_ENST00000342616.4_Missense_Mutation_p.D37E|RUFY2_ENST00000472394.2_5'UTR			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	86						nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						GATAGTCAGAATCCAAAGTGC	0.393																																						ENST00000388768.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						c.(214-216)gaT>gaA		RUN and FYVE domain containing 2							134	132	132					10																	70164495		1902	4108	6010	SO:0001583	missense	55680					nucleus	metal ion binding	g.chr10:70164495A>T	AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"Zinc fingers, FYVE domain containing"	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.111T>A	10.37:g.70164495A>T	ENSP00000473462:p.Asp37Glu					RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000602465.1_Missense_Mutation_p.D37E|RUFY2_ENST00000399200.2_Missense_Mutation_p.D37E|RUFY2_ENST00000342616.4_Missense_Mutation_p.D37E|RUFY2_ENST00000454950.2_Intron	p.D72E	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN			2	542	-			86					B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Missense_Mutation	SNP	ENST00000602465.1	37	c.216T>A		.	.	.	.	.	.	.	.	.	.	A	19.49	3.838190	0.71373	.	.	ENSG00000204130	ENST00000388768;ENST00000399200;ENST00000342616	T;T;T	0.12039	2.72;2.72;2.72	4.5	0.733	0.18289	.	0.000000	0.85682	D	0.000000	T	0.27663	0.0680	M	0.64997	1.995	0.80722	D	1	P;P;D;P	0.61697	0.617;0.811;0.99;0.811	B;P;D;P	0.72625	0.207;0.855;0.978;0.855	T	0.00948	-1.1504	10	0.48119	T	0.1	.	8.3991	0.32574	0.6594:0.0:0.3406:0.0	.	37;37;37;72	Q5TC51;Q8WXA3-2;Q8WXA3-4;Q8WXA3-3	.;.;.;.	E	72;37;37	ENSP00000373420:D72E;ENSP00000382151:D37E;ENSP00000341727:D37E	ENSP00000341727:D37E	D	-	3	2	RUFY2	69834501	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.954000	0.40362	0.263000	0.21812	0.459000	0.35465	GAT		0.393	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467567.1	NM_017987		6	88	0	0	0	0.021553	0	6	88					T	70164495	A	T	70164495	3	4	278	1	0	0	0	0	1	0	0	0	13739	98	4	5	1890	5	RUFY2	10	70164495	Missense_Mutation	SNP	A	TCGA-EM-A1YC-01A-11D-A14W-08		70164495	65370252	10	6029											
INPPL1	3636	broad.mit.edu	37	chr11	71943766	71943766	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgcgtttcacacacctcttCtggtttggggacctcaacta	8	13	4	0			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr11:71943766C>T	ENST00000298229.2	+	15	2013	c.1809C>T	c.(1807-1809)ttC>ttT	p.F603F	INPPL1_ENST00000541756.1_Silent_p.F361F|INPPL1_ENST00000538751.1_Silent_p.F361F	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	603					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CACACCTCTTCTGGTTTGGGG	0.582																																						ENST00000298229.2																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1807-1809)ttC>ttT		inositol polyphosphate phosphatase-like 1							92	89	90					11																	71943766		2200	4293	6493	SO:0001819	synonymous_variant	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71943766C>T	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"Sterile alpha motif (SAM) domain containing", "SH2 domain containing"	6080	protein-coding gene	gene with protein product	"51C protein"	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.1809C>T	11.37:g.71943766C>T						INPPL1_ENST00000538751.1_Silent_p.F361F|INPPL1_ENST00000541756.1_Silent_p.F361F	p.F603F	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN			15	2013	+			603					B2RTX5|Q13577|Q13578	Silent	SNP	ENST00000298229.2	37	c.1809C>T	CCDS8213.1																																																																																				0.582	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		6	93	0	0	0	0.02938	0	6	93					T	71943766	C	T	71943766	2	4	278	1	0	0	0	0	0	0	0	1	7761	912	32	2		2	INPPL1	11	71943766	Silent	SNP	C	TCGA-EM-A1YC-01A-11D-A14W-08		71943766	63062750	11	6030											
ATM	472	broad.mit.edu	37	chr11	108216586	108216586	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcttggatccagctatttgGtttgagaagcgattggctta	11	6	1	1			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr11:108216586G>T	ENST00000452508.2	+	59	8724	c.8535G>T	c.(8533-8535)tgG>tgT	p.W2845C	C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.W2845C			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2845	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.W2845*(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CAGCTATTTGGTTTGAGAAGC	0.373			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		1	Substitution - Nonsense(1)	p.W2845*(1)	NS(1)	NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(8533-8535)tgG>tgT	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							158	162	161					11																	108216586		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108216586G>T	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8535G>T	11.37:g.108216586G>T	ENSP00000388058:p.Trp2845Cys	TSP Lung(14;0.12)				C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.W2845C	p.W2845C	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	58	8920	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2845			PI3K/PI4K.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.8535G>T	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737759	0.89573	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.83075	-1.68;-1.68	5.64	5.64	0.86602	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.95242	0.8457	H	0.98333	4.205	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96828	0.9609	10	0.87932	D	0	.	19.6889	0.95989	0.0:0.0:1.0:0.0	.	2845	Q13315	ATM_HUMAN	C	2845	ENSP00000278616:W2845C;ENSP00000388058:W2845C	ENSP00000278616:W2845C	W	+	3	0	ATM	107721796	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.847000	0.99503	2.650000	0.89964	0.650000	0.86243	TGG		0.373	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		98	80	1	0	1.74666e-38	0.01441	2.4145e-38	98	80					T	108216586	G	T	108216586	3	4	278	1	0	0	0	0	1	0	0	0	1109	1270	44	4	8761	4	ATM	11	108216586	Missense_Mutation	SNP	G	TCGA-EM-A1YC-01A-11D-A14W-08	36272820	108216586	26789930	12	6031											
LRIG3	121227	broad.mit.edu	37	chr12	59274443	59274443	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgatatttcccctcactgGcaaattccacctcgcgcagc	6	16	1	1			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr12:59274443G>A	ENST00000320743.3	-	13	2007	c.1721C>T	c.(1720-1722)gCc>gTc	p.A574V	LRIG3_ENST00000379141.4_Missense_Mutation_p.A514V	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	574	Ig-like C2-type 1.				otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A574V(1)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CCCCTCACTGGCAAATTCCAC	0.478			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	1	Substitution - Missense(1)	p.A574V(1)	prostate(1)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1720-1722)gCc>gTc		leucine-rich repeats and immunoglobulin-like domains 3							88	79	82					12																	59274443		2203	4300	6503	SO:0001583	missense	121227					integral to membrane		g.chr12:59274443G>A	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"Immunoglobulin superfamily / I-set domain containing"	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.1721C>T	12.37:g.59274443G>A	ENSP00000326759:p.Ala574Val					LRIG3_ENST00000379141.4_Missense_Mutation_p.A514V	p.A574V	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		13	2007	-			574			Ig-like C2-type 1.		Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	c.1721C>T	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.915777	0.52546	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.40476	1.03;1.03	6.04	6.04	0.98038	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.714336	0.11489	N	0.558920	T	0.41789	0.1174	L	0.56769	1.78	0.25738	N	0.98519	B;B	0.20164	0.018;0.042	B;B	0.27380	0.079;0.022	T	0.25606	-1.0127	9	.	.	.	.	9.4956	0.38986	0.0764:0.1865:0.7371:0.0	.	514;574	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	V	514;574	ENSP00000368436:A514V;ENSP00000326759:A574V	.	A	-	2	0	LRIG3	57560710	1.000000	0.71417	0.994000	0.49952	0.856000	0.48823	3.394000	0.52551	2.873000	0.98535	0.561000	0.74099	GCC		0.478	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		3	49	0	0	0	0.009096	0	3	49					A	59274443	G	A	59274443	3	1	278	1	0	0	0	0	1	0	0	0	8946	1203	42	2	1666	2	LRIG3	12	59274443	Missense_Mutation	SNP	G	TCGA-EM-A1YC-01A-11D-A14W-08		59274443	74577452	13	6032											
STRC	161497	broad.mit.edu	37	chr15	43896265	43896265	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttggcagcaagctgtggcTccctacacagctgtccaact	9	14	1	0			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr15:43896265T>C	ENST00000450892.2	-	22	4381	c.4304A>G	c.(4303-4305)gAg>gGg	p.E1435G	STRC_ENST00000541030.1_Missense_Mutation_p.E662G|RNU6-554P_ENST00000410466.1_RNA	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1435					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		AAGCTGTGGCTCCCTACACAG	0.557																																						ENST00000450892.2																			0				skin(4)	4						c.(4303-4305)gAg>gGg		stereocilin							42	41	42					15																	43896265		2200	4298	6498	SO:0001583	missense	161497				sensory perception of sound	cell surface		g.chr15:43896265T>C	BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.4304A>G	15.37:g.43896265T>C	ENSP00000401513:p.Glu1435Gly					STRC_ENST00000541030.1_Missense_Mutation_p.E662G	p.E1435G	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	22	4381	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	1435						Missense_Mutation	SNP	ENST00000450892.2	37	c.4304A>G	CCDS10098.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.598909	0.00857	.	.	ENSG00000242866	ENST00000450892;ENST00000299992;ENST00000541030	T;T	0.77229	-1.07;-1.08	5.6	2.04	0.26737	.	0.895753	0.09511	N	0.792309	T	0.54224	0.1845	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.36261	-0.9755	9	0.07990	T	0.79	0.3255	4.6195	0.12442	0.0:0.5088:0.1533:0.3379	.	662;1435	F5GXA4;Q7RTU9	.;STRC_HUMAN	G	1435;1435;662	ENSP00000401513:E1435G;ENSP00000440413:E662G	ENSP00000299992:E1435G	E	-	2	0	STRC	41683557	0.000000	0.05858	0.000000	0.03702	0.415000	0.31203	0.803000	0.27083	-0.042000	0.13535	-1.071000	0.02255	GAG		0.557	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	NM_153700		3	22	0	0	0	0.009096	0	3	22					C	43896265	T	C	43896265	3	2	278	1	0	0	0	0	1	0	0	0	15327	1551	54	3	1055	3	STRC	15	43896265	Missense_Mutation	SNP	T	TCGA-EM-A1YC-01A-11D-A14W-08		43896265	58635127	14	6033											
KDM6B	23135	broad.mit.edu	37	chr17	7752257	7752257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggcccgggagcgcagggCgggcgaagagccagtcccgg	20	13	0	1	rs200066890	byFrequency	TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr17:7752257C>T	ENST00000448097.2	+	11	2982	c.2651C>T	c.(2650-2652)gCg>gTg	p.A884V	KDM6B_ENST00000254846.5_Missense_Mutation_p.A884V			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	884	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GAGCGCAGGGCGGGCGAAGAG	0.692													C|||	2	0.000399361	0	0	5008	,	,		5923	0.002		0	False		,,,				2504	0					ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(2650-2652)gCg>gTg		lysine (K)-specific demethylase 6B																																				SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7752257C>T	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.2651C>T	17.37:g.7752257C>T	ENSP00000412513:p.Ala884Val					KDM6B_ENST00000448097.2_Missense_Mutation_p.A884V	p.A884V	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			11	3040	+			884			Pro-rich.		C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.2651C>T		.	.	.	.	.	.	.	.	.	.	C	9.856	1.194921	0.22037	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.77489	-1.1;-1.1	4.47	-0.204	0.13200	.	0.652904	0.15604	N	0.253750	T	0.55878	0.1948	N	0.14661	0.345	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.04013	0.0;0.001	T	0.39781	-0.9597	10	0.27082	T	0.32	-1.1734	7.3404	0.26633	0.0:0.5814:0.257:0.1616	.	884;884	O15054;O15054-1	KDM6B_HUMAN;.	V	884	ENSP00000254846:A884V;ENSP00000412513:A884V	ENSP00000254846:A884V	A	+	2	0	KDM6B	7692982	0.389000	0.25205	0.285000	0.24819	0.954000	0.61252	0.132000	0.15891	0.226000	0.20979	-0.448000	0.05591	GCG		0.692	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		3	12	0	0	0	0.004672	0	3	12					T	7752257	C	T	7752257	3	4	278	1	0	0	0	0	1	0	0	0	8138	768	27	1	2681	1	KDM6B	17	7752257	Missense_Mutation	SNP	C	TCGA-EM-A1YC-01A-11D-A14W-08		7752257	73442953	15	6034											
DNAH9	1770	broad.mit.edu	37	chr17	11584043	11584043	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgaggtttcctttgcaggagCtgcctgagaaatggaacaac	12	8	0	2			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr17:11584043C>G	ENST00000262442.4	+	19	3648	c.3580C>G	c.(3580-3582)Ctg>Gtg	p.L1194V	DNAH9_ENST00000454412.2_Missense_Mutation_p.L1194V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1194	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTTGCAGGAGCTGCCTGAGAA	0.527																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(3580-3582)Ctg>Gtg		dynein, axonemal, heavy chain 9							64	52	56					17																	11584043		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11584043C>G	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.3580C>G	17.37:g.11584043C>G	ENSP00000262442:p.Leu1194Val					DNAH9_ENST00000454412.2_Missense_Mutation_p.L1194V	p.L1194V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	19	3648	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1194			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.3580C>G	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.120361	0.56613	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.33216	1.47;1.42	5.37	3.32	0.38043	.	0.088829	0.47093	D	0.000260	T	0.59528	0.2200	M	0.89095	3.005	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.69030	-0.5253	10	0.87932	D	0	.	12.9572	0.58434	0.0:0.8591:0.0:0.1409	.	1194	Q9NYC9	DYH9_HUMAN	V	1194	ENSP00000262442:L1194V;ENSP00000414874:L1194V	ENSP00000262442:L1194V	L	+	1	2	DNAH9	11524768	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	1.664000	0.37439	1.384000	0.46424	0.563000	0.77884	CTG		0.527	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		3	20	0	0	0	0.004672	0	3	20					G	11584043	C	G	11584043	3	3	278	1	0	0	0	0	1	0	0	0	4608	796	28	4	3654	4	DNAH9	17	11584043	Missense_Mutation	SNP	C	TCGA-EM-A1YC-01A-11D-A14W-08	3831786	11584043	69611167	16	6035											
C18orf34	374864	broad.mit.edu	37	chr18	30554616	30554616	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagtgctcctgccacagTgtgtgcatccttctctgcag	10	12	1	1			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr18:30554616T>C	ENST00000383096.3	-	22	2600	c.2418A>G	c.(2416-2418)acA>acG	p.T806T	CCDC178_ENST00000300227.8_Silent_p.T768T|CCDC178_ENST00000579916.1_Silent_p.T126T|CCDC178_ENST00000579947.1_Silent_p.T806T|CCDC178_ENST00000403303.1_Silent_p.T806T|CCDC178_ENST00000581852.1_Silent_p.T11T|CCDC178_ENST00000402325.1_Silent_p.T756T|CCDC178_ENST00000406524.2_Silent_p.T830T|CCDC178_ENST00000583930.1_Silent_p.T830T			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	806																	CCTGCCACAGTGTGTGCATCC	0.493																																						ENST00000383096.3																			0											c.(2416-2418)acA>acG		coiled-coil domain containing 178							55	49	51					18																	30554616		2203	4300	6503	SO:0001819	synonymous_variant	374864							g.chr18:30554616T>C	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.2418A>G	18.37:g.30554616T>C						CCDC178_ENST00000402325.1_Silent_p.T756T|CCDC178_ENST00000579947.1_Silent_p.T806T|CCDC178_ENST00000403303.1_Silent_p.T806T|CCDC178_ENST00000581852.1_Silent_p.T11T|CCDC178_ENST00000406524.2_Silent_p.T830T|CCDC178_ENST00000579916.1_Silent_p.T126T|CCDC178_ENST00000583930.1_Silent_p.T830T|CCDC178_ENST00000300227.8_Silent_p.T768T	p.T806T							22	2600	-								A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Silent	SNP	ENST00000383096.3	37	c.2418A>G	CCDS42424.1																																																																																				0.493	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		12	19	0	0	0	0.013537	0	12	19					C	30554616	T	C	30554616	2	2	278	1	0	0	0	0	0	0	0	1	1902	1683	59	3		3	C18orf34	18	30554616	Silent	SNP	T	TCGA-EM-A1YC-01A-11D-A14W-08		30554616	47522632	17	6036											
TRAPPC10	7109	broad.mit.edu	37	chr21	45483558	45483558	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagatctgcgcagttacctGttctctcgccagtgcacctt	8	13	2	1			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr21:45483558G>A	ENST00000291574.4	+	7	1105	c.930G>A	c.(928-930)ctG>ctA	p.L310L		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	310					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GCAGTTACCTGTTCTCTCGCC	0.582																																						ENST00000291574.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.(928-930)ctG>ctA		trafficking protein particle complex 10							122	113	116					21																	45483558		2203	4300	6503	SO:0001819	synonymous_variant	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45483558G>A	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"Trafficking protein particle complex"	11868	protein-coding gene	gene with protein product	"trafficking protein particle complex subunit 130", "TRAPP 130 kDa subunit"	602103	"transmembrane protein 1"	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.930G>A	21.37:g.45483558G>A							p.L310L	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN			7	1105	+			310					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Silent	SNP	ENST00000291574.4	37	c.930G>A	CCDS13704.1																																																																																				0.582	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		4	73	0	0	0	0.021553	0	4	73					A	45483558	G	A	45483558	2	1	278	1	0	0	0	0	0	0	0	1	16454	1364	48	2		2	TRAPPC10	21	45483558	Silent	SNP	G	TCGA-EM-A1YC-01A-11D-A14W-08		45483558	2646337	18	6037											
EGFL6	25975	broad.mit.edu	37	chrX	13624630	13624630	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtggacgatatgactgtaTaggtaagattcgatggcacc	12	7	0	2	rs151014946	byFrequency	TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chrX:13624630T>C	ENST00000361306.1	+	6	910	c.653T>C	c.(652-654)aTa>aCa	p.I218T	EGFL6_ENST00000380602.3_Missense_Mutation_p.I218T	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	218					cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						TATGACTGTATAGGTAAGATT	0.398																																						ENST00000361306.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						c.(652-654)aTa>aCa		EGF-like-domain, multiple 6							193	176	182					X																	13624630		2203	4300	6503	SO:0001583	missense	25975				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding	g.chrX:13624630T>C	AF186084	CCDS14155.1, CCDS55370.1	Xp22	2008-02-05	2002-10-09		ENSG00000198759	ENSG00000198759			3235	protein-coding gene	gene with protein product		300239	"MAM and EGF domain containing"	MAEG		10610727	Standard	NM_015507		Approved		uc004cvj.3	Q8IUX8	OTTHUMG00000021155	ENST00000361306.1:c.653T>C	X.37:g.13624630T>C	ENSP00000355126:p.Ile218Thr					EGFL6_ENST00000380602.3_Missense_Mutation_p.I218T	p.I218T	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN			6	910	+			218					B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6	Missense_Mutation	SNP	ENST00000361306.1	37	c.653T>C	CCDS14155.1	.	.	.	.	.	.	.	.	.	.	T	4.823	0.152987	0.09185	.	.	ENSG00000198759	ENST00000361306;ENST00000380602	D;D	0.87412	-2.25;-2.25	5.25	4.04	0.47022	EGF-like calcium-binding (1);	0.486110	0.22288	N	0.062034	T	0.70037	0.3178	N	0.04669	-0.19	0.23673	N	0.997146	B;B	0.20887	0.003;0.049	B;B	0.18561	0.006;0.022	T	0.52866	-0.8518	10	0.11182	T	0.66	.	11.1036	0.48190	0.0:0.0:0.1531:0.8469	.	218;218	Q8IUX8-2;Q8IUX8	.;EGFL6_HUMAN	T	218	ENSP00000355126:I218T;ENSP00000369976:I218T	ENSP00000355126:I218T	I	+	2	0	EGFL6	13534551	1.000000	0.71417	0.463000	0.27130	0.017000	0.09413	4.550000	0.60733	0.619000	0.30197	0.432000	0.28606	ATA		0.398	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055800.1	NM_015507		17	180	0	0	0	0.008871	0	17	180					C	13624630	T	C	13624630	3	2	278	1	0	0	0	0	1	0	0	0	4963	1406	49	3	675	3	EGFL6	23	13624630	Missense_Mutation	SNP	T	TCGA-EM-A1YC-01A-11D-A14W-08		13624630	141645930	19	6038											
TMEM35	59353	broad.mit.edu	37	chrX	100349805	100349805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcccatgctctggtgtttGgaatcctgctcacttgccgc	10	14	2	0			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chrX:100349805G>A	ENST00000372930.4	+	2	647	c.364G>A	c.(364-366)Gga>Aga	p.G122R	TMEM35_ENST00000478351.1_3'UTR|TRMT2B-AS1_ENST00000443801.2_RNA	NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN	transmembrane protein 35	122						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						TCTGGTGTTTGGAATCCTGCT	0.557																																						ENST00000372930.4																			0				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						c.(364-366)Gga>Aga		transmembrane protein 35							171	130	144					X																	100349805		2203	4300	6503	SO:0001583	missense	59353					cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane		g.chrX:100349805G>A	AK024146	CCDS14478.1	Xq22	2008-02-05			ENSG00000126950	ENSG00000126950			25864	protein-coding gene	gene with protein product							Standard	NM_021637		Approved	FLJ14084	uc004egw.3	Q53FP2	OTTHUMG00000022016	ENST00000372930.4:c.364G>A	X.37:g.100349805G>A	ENSP00000362021:p.Gly122Arg					TMEM35_ENST00000478351.1_3'UTR	p.G122R	NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN			2	647	+			122					Q9H7Y3	Missense_Mutation	SNP	ENST00000372930.4	37	c.364G>A	CCDS14478.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037794	0.75617	.	.	ENSG00000126950	ENST00000372930;ENST00000444892	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.72558	0.3475	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69198	-0.5208	9	0.29301	T	0.29	-9.396	18.3931	0.90490	0.0:0.0:1.0:0.0	.	122	Q53FP2	TMM35_HUMAN	R	122;81	.	ENSP00000362021:G122R	G	+	1	0	TMEM35	100236461	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	9.194000	0.94962	2.284000	0.76573	0.594000	0.82650	GGA		0.557	TMEM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057508.1	NM_021637		17	131	0	0	0	0.038395	0	17	131					A	100349805	G	A	100349805	3	1	278	1	0	0	0	0	1	0	0	0	16154	1349	47	2	370	2	TMEM35	23	100349805	Missense_Mutation	SNP	G	TCGA-EM-A1YC-01A-11D-A14W-08	86725175	100349805	54920755	20	6039											
NRP2	8828	broad.mit.edu	37	chr2	206630290	206630290	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtcccactggagaactgCatgggtatgtgaatatctgt	12	7	1	2			TCGA-EM-A1YD-01A-11D-A14W-08	TCGA-EM-A1YD-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa9d53-6742-48e3-ac67-7be5f7f48aa6	357a4434-cd9f-4fc5-bab7-5ef3a14fc76e	g.chr2:206630290C>T	ENST00000357785.5	+	14	2431	c.2400C>T	c.(2398-2400)tgC>tgT	p.C800C	AC007362.3_ENST00000596616.1_RNA|NRP2_ENST00000360409.3_Silent_p.C800C|NRP2_ENST00000272849.3_Silent_p.C800C|NRP2_ENST00000412873.2_Silent_p.C800C|AC007362.3_ENST00000423425.1_RNA|NRP2_ENST00000357118.4_Silent_p.C800C|NRP2_ENST00000540178.1_Silent_p.C800C|NRP2_ENST00000540841.1_Silent_p.C800C|AC007362.3_ENST00000598710.1_RNA|NRP2_ENST00000485684.1_3'UTR			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TGGAGAACTGCATGGGTATGT	0.478																																						ENST00000360409.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(2398-2400)tgC>tgT		neuropilin 2							226	209	214					2																	206630290		2203	4300	6503	SO:0001819	synonymous_variant	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206630290C>T	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.2400C>T	2.37:g.206630290C>T						NRP2_ENST00000540178.1_Silent_p.C800C|NRP2_ENST00000412873.2_Silent_p.C800C|NRP2_ENST00000540841.1_Silent_p.C800C|NRP2_ENST00000357118.4_Silent_p.C800C|NRP2_ENST00000485684.1_3'UTR|NRP2_ENST00000272849.3_Silent_p.C800C|NRP2_ENST00000357785.5_Silent_p.C800C	p.C800C	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN			14	3191	+			800			MAM.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000357785.5	37	c.2400C>T	CCDS46496.1																																																																																				0.478	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			4	96	0	0	0	0.009096	0	4	96					T	206630290	C	T	206630290	2	4	279	1	0	0	0	0	0	0	0	1	10661	718	25	2		2	NRP2	2	206630290	Silent	SNP	C	TCGA-EM-A1YD-01A-11D-A14W-08		206630290	36569083	1	6040											
ZFP42	132625	broad.mit.edu	37	chr4	188924090	188924090	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caggcggaaatagaacctgtCagcgcggtgtgggccttatg	15	9	1	1			TCGA-EM-A1YD-01A-11D-A14W-08	TCGA-EM-A1YD-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa9d53-6742-48e3-ac67-7be5f7f48aa6	357a4434-cd9f-4fc5-bab7-5ef3a14fc76e	g.chr4:188924090C>T	ENST00000326866.4	+	4	537	c.129C>T	c.(127-129)gtC>gtT	p.V43V	ZFP42_ENST00000509524.1_Silent_p.V43V	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	43					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TAGAACCTGTCAGCGCGGTGT	0.562																																						ENST00000326866.4																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27						c.(127-129)gtC>gtT		ZFP42 zinc finger protein							107	93	98					4																	188924090		2203	4300	6503	SO:0001819	synonymous_variant	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924090C>T	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"Zinc fingers, C2H2-type"	30949	protein-coding gene	gene with protein product		614572	"zinc finger protein 42 homolog (mouse)", "zinc finger protein 42"			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.129C>T	4.37:g.188924090C>T						ZFP42_ENST00000509524.1_Silent_p.V43V	p.V43V	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	4	537	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	43					D3DP65|Q8WXE2	Silent	SNP	ENST00000326866.4	37	c.129C>T	CCDS3849.1																																																																																				0.562	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		25	40	0	0	0	0.099896	0	25	40					T	188924090	C	T	188924090	2	4	279	1	0	0	0	0	0	0	0	1	17647	813	29	2		2	ZFP42	4	188924090	Silent	SNP	C	TCGA-EM-A1YD-01A-11D-A14W-08		188924090	2230186	2	6041											
SKAP2	8935	broad.mit.edu	37	chr7	26766512	26766512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactacaacctgatatatacGtttatcaggagcagagattt	7	7	1	2			TCGA-EM-A1YD-01A-11D-A14W-08	TCGA-EM-A1YD-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa9d53-6742-48e3-ac67-7be5f7f48aa6	357a4434-cd9f-4fc5-bab7-5ef3a14fc76e	g.chr7:26766512G>A	ENST00000345317.2	-	7	896	c.583C>T	c.(583-585)Cgt>Tgt	p.R195C	SKAP2_ENST00000539623.1_Missense_Mutation_p.R23C|SKAP2_ENST00000489977.1_5'UTR	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	195	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				B cell activation (GO:0042113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.R195G(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						TGATATATACGTTTATCAGGA	0.303																																						ENST00000345317.2																			1	Substitution - Missense(1)	p.R195G(1)	lung(1)	haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						c.(583-585)Cgt>Tgt		src kinase associated phosphoprotein 2							96	88	91					7																	26766512		2202	4299	6501	SO:0001583	missense	8935				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity	g.chr7:26766512G>A		CCDS5400.1	7p15.2	2013-01-10	2006-09-28	2006-09-28	ENSG00000005020	ENSG00000005020		"Pleckstrin homology (PH) domain containing"	15687	protein-coding gene	gene with protein product		605215	"src family associated phosphoprotein 2"	SCAP2		9837776, 9755858	Standard	NM_003930		Approved	RA70, SKAP-HOM, SKAP55R, SAPS	uc003syc.3	O75563	OTTHUMG00000023495	ENST00000345317.2:c.583C>T	7.37:g.26766512G>A	ENSP00000005587:p.Arg195Cys					SKAP2_ENST00000489977.1_5'UTR|SKAP2_ENST00000539623.1_Missense_Mutation_p.R23C	p.R195C	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN			7	896	-			195			PH.		A4D173|Q53GP6|Q75MK6|Q75MZ4|Q9UBZ3|Q9UED8	Missense_Mutation	SNP	ENST00000345317.2	37	c.583C>T	CCDS5400.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139300	0.77775	.	.	ENSG00000005020	ENST00000345317;ENST00000539623;ENST00000535331	T;T	0.18502	2.21;2.21	5.71	5.71	0.89125	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.55065	0.1897	M	0.92268	3.29	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.65319	-0.6197	10	0.87932	D	0	-16.3262	19.921	0.97085	0.0:0.0:1.0:0.0	.	180;195	B7Z5N4;O75563	.;SKAP2_HUMAN	C	195;23;180	ENSP00000005587:R195C;ENSP00000443593:R23C	ENSP00000005587:R195C	R	-	1	0	SKAP2	26733037	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.472000	0.97709	2.712000	0.92718	0.644000	0.83932	CGT		0.303	SKAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214128.1			15	34	0	0	0	0.0333	0	15	34					A	26766512	G	A	26766512	3	1	279	1	0	0	0	0	1	0	0	0	14356	1145	40	1	520	1	SKAP2	7	26766512	Missense_Mutation	SNP	G	TCGA-EM-A1YD-01A-11D-A14W-08		26766512	132372151	3	6042											
WT1	7490	broad.mit.edu	37	chr11	32414222	32414222	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	acctacaaacctgtatgtctCctttggtgtcttttgagctg	8	10	2	1			TCGA-EM-A1YD-01A-11D-A14W-08	TCGA-EM-A1YD-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa9d53-6742-48e3-ac67-7be5f7f48aa6	357a4434-cd9f-4fc5-bab7-5ef3a14fc76e	g.chr11:32414222C>A	ENST00000379079.2	-	8	966	c.693G>T	c.(691-693)agG>agT	p.R231S	WT1_ENST00000332351.3_Missense_Mutation_p.R443S|WT1_ENST00000448076.3_Missense_Mutation_p.R443S|WT1_ENST00000530998.1_Missense_Mutation_p.R214S	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	375					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|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)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			CTGTATGTCTCCTTTGGTGTC	0.438			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													ENST00000332351.3			yes	Rec	yes	"Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"	11	11p13	7490	"D, Mis, N, F, S"	Wilms tumour 1 gene			O	EWSR1	Wilms	"Wilms, desmoplastic small round cell tumor"	EWSR1/WT1(234)	0				NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533						c.(1327-1329)agG>agT		Wilms tumor 1							187	155	166					11																	32414222		2202	4299	6501	SO:0001583	missense	7490	Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:32414222C>A		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"Zinc fingers, C2H2-type"	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.693G>T	11.37:g.32414222C>A	ENSP00000368370:p.Arg231Ser					WT1_ENST00000448076.3_Missense_Mutation_p.R443S|WT1_ENST00000530998.1_Missense_Mutation_p.R214S|WT1_ENST00000379079.2_Missense_Mutation_p.R231S	p.R443S	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(30;0.128)		8	1613	-	Breast(20;0.247)		375					A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Missense_Mutation	SNP	ENST00000379079.2	37	c.1329G>T	CCDS55751.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.931831	0.73442	.	.	ENSG00000184937	ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076	T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87	5.73	4.81	0.61882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	U	0.000001	T	0.42517	0.1206	L	0.52364	1.645	0.58432	D	0.999998	D;D;D;P;P	0.61080	0.987;0.989;0.988;0.942;0.953	D;D;D;P;D	0.70935	0.939;0.971;0.953;0.891;0.917	T	0.16988	-1.0384	10	0.87932	D	0	.	11.7909	0.52070	0.0:0.8698:0.0:0.1302	.	431;375;448;214;231	P19544-8;P19544;P19544-7;B3KSA5;P19544-6	.;WT1_HUMAN;.;.;.	S	231;443;214;426;443	ENSP00000368370:R231S;ENSP00000331327:R443S;ENSP00000435307:R214S;ENSP00000415516:R426S;ENSP00000413452:R443S	ENSP00000331327:R443S	R	-	3	2	WT1	32370798	0.995000	0.38212	1.000000	0.80357	0.993000	0.82548	0.423000	0.21313	2.868000	0.98415	0.555000	0.69702	AGG		0.438	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1	NM_000378		4	32	1	0	0.00024832	0.009096	0.000297984	4	32					A	32414222	C	A	32414222	3	1	279	1	0	0	0	0	1	0	0	0	17405	854	30	4	236	4	WT1	11	32414222	Missense_Mutation	SNP	C	TCGA-EM-A1YD-01A-11D-A14W-08		32414222	102592294	4	6043											
KRT79	338785	broad.mit.edu	37	chr12	53225273	53225273	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgctctgaagtctgtccagCgtgctccgcatgctacccag	10	15	2	1	rs200800580		TCGA-EM-A1YD-01A-11D-A14W-08	TCGA-EM-A1YD-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa9d53-6742-48e3-ac67-7be5f7f48aa6	357a4434-cd9f-4fc5-bab7-5ef3a14fc76e	g.chr12:53225273C>T	ENST00000330553.5	-	2	649	c.615G>A	c.(613-615)acG>acA	p.T205T		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	205	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTCTGTCCAGCGTGCTCCGCA	0.607																																						ENST00000330553.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(613-615)acG>acA		keratin 79							112	108	109					12																	53225273		2203	4300	6503	SO:0001819	synonymous_variant	338785					keratin filament	structural molecule activity	g.chr12:53225273C>T	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"-", "Intermediate filaments type II, keratins (basic)"	28930	protein-coding gene	gene with protein product	"keratin 6-like"	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.615G>A	12.37:g.53225273C>T							p.T205T	NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN			2	649	-			205			Coil 1B.|Rod.		Q6P465|Q7Z793	Silent	SNP	ENST00000330553.5	37	c.615G>A	CCDS8839.1																																																																																				0.607	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834		22	83	0	0	0	0.076483	0	22	83					T	53225273	C	T	53225273	2	4	279	1	0	0	0	0	0	0	0	1	8492	755	27	1		1	KRT79	12	53225273	Silent	SNP	C	TCGA-EM-A1YD-01A-11D-A14W-08		53225273	80626622	5	6044											
ZNF319	57567	broad.mit.edu	37	chr16	58031260	58031260	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttggcgtgcacgggtgctGcagcagctccgacgactcct	13	14	0	0			TCGA-EM-A1YD-01A-11D-A14W-08	TCGA-EM-A1YD-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa9d53-6742-48e3-ac67-7be5f7f48aa6	357a4434-cd9f-4fc5-bab7-5ef3a14fc76e	g.chr16:58031260G>A	ENST00000299237.2	-	2	1532	c.910C>T	c.(910-912)Cag>Tag	p.Q304*	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	304					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						CACGGGTGCTGCAGCAGCTCC	0.662																																						ENST00000299237.2																			0				large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						c.(910-912)Cag>Tag		zinc finger protein 319							36	37	37					16																	58031260		2198	4300	6498	SO:0001587	stop_gained	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:58031260G>A	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"Zinc fingers, C2H2-type"	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.910C>T	16.37:g.58031260G>A	ENSP00000299237:p.Gln304*						p.Q304*	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN			2	1532	-			304					Q52LH8	Nonsense_Mutation	SNP	ENST00000299237.2	37	c.910C>T	CCDS32462.1	.	.	.	.	.	.	.	.	.	.	G	42	9.297352	0.99128	.	.	ENSG00000166188	ENST00000299237	.	.	.	5.13	5.13	0.70059	.	0.130255	0.52532	U	0.000070	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-26.217	17.579	0.87960	0.0:0.0:1.0:0.0	.	.	.	.	X	304	.	ENSP00000299237:Q304X	Q	-	1	0	ZNF319	56588761	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.855000	0.86950	2.399000	0.81585	0.655000	0.94253	CAG		0.662	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			3	29	0	0	0	0.009096	0	3	29					A	58031260	G	A	58031260	4	1	279	1	0	0	0	0	0	1	0	0	17834	1328	46	2	842	2	ZNF319	16	58031260	Nonsense_Mutation	SNP	G	TCGA-EM-A1YD-01A-11D-A14W-08		58031260	32323493	6	6045											
PTPRT	11122	broad.mit.edu	37	chr20	41306647	41306647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgggagagtcgactatgtGggtctctgcccacgtgcctg	15	10	1	1			TCGA-EM-A1YD-01A-11D-A14W-08	TCGA-EM-A1YD-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa9d53-6742-48e3-ac67-7be5f7f48aa6	357a4434-cd9f-4fc5-bab7-5ef3a14fc76e	g.chr20:41306647G>A	ENST00000373187.1	-	7	1011	c.1012C>T	c.(1012-1014)Cac>Tac	p.H338Y	PTPRT_ENST00000373193.3_Missense_Mutation_p.H338Y|PTPRT_ENST00000356100.2_Missense_Mutation_p.H338Y|PTPRT_ENST00000373190.1_Missense_Mutation_p.H338Y|PTPRT_ENST00000373201.1_Missense_Mutation_p.H338Y|PTPRT_ENST00000373184.1_Missense_Mutation_p.H338Y|PTPRT_ENST00000373198.4_Missense_Mutation_p.H338Y			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	338	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TCGACTATGTGGGTCTCTGCC	0.567																																						ENST00000373198.3																			0				NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(1012-1014)Cac>Tac		protein tyrosine phosphatase, receptor type, T							148	155	153					20																	41306647		2042	4187	6229	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:41306647G>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1012C>T	20.37:g.41306647G>A	ENSP00000362283:p.His338Tyr					PTPRT_ENST00000373190.1_Missense_Mutation_p.H338Y|PTPRT_ENST00000373193.3_Missense_Mutation_p.H338Y|PTPRT_ENST00000373201.1_Missense_Mutation_p.H338Y|PTPRT_ENST00000373187.1_Missense_Mutation_p.H338Y|PTPRT_ENST00000373184.1_Missense_Mutation_p.H338Y|PTPRT_ENST00000356100.2_Missense_Mutation_p.H338Y	p.H338Y	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN			7	1247	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	338			Fibronectin type-III 1.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.1012C>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.162273	0.38217	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41	5.42	5.42	0.78866	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.112633	0.64402	D	0.000016	T	0.61211	0.2329	M	0.76838	2.35	0.51233	D	0.999918	B;B	0.32467	0.321;0.372	B;B	0.36030	0.138;0.216	T	0.65569	-0.6136	10	0.87932	D	0	.	19.1814	0.93625	0.0:0.0:1.0:0.0	.	338;338	O14522-1;O14522	.;PTPRT_HUMAN	Y	338	ENSP00000362286:H338Y;ENSP00000362283:H338Y;ENSP00000362289:H338Y;ENSP00000348408:H338Y;ENSP00000362294:H338Y;ENSP00000362280:H338Y;ENSP00000362297:H338Y	ENSP00000348408:H338Y	H	-	1	0	PTPRT	40740061	1.000000	0.71417	1.000000	0.80357	0.208000	0.24298	6.532000	0.73825	2.705000	0.92388	0.655000	0.94253	CAC		0.567	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			14	115	0	0	0	0.020292	0	14	115					A	41306647	G	A	41306647	3	1	279	1	0	0	0	0	1	0	0	0	12812	1348	47	2	3474	2	PTPRT	20	41306647	Missense_Mutation	SNP	G	TCGA-EM-A1YD-01A-11D-A14W-08		41306647	21718873	7	6046											
ASMT	438	broad.mit.edu	37	chrX	1743168	1743168	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgtgtttcagctttctAtcgaaacacagagctgtcca	9	9	2	1			TCGA-EM-A1YD-01A-11D-A14W-08	TCGA-EM-A1YD-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa9d53-6742-48e3-ac67-7be5f7f48aa6	357a4434-cd9f-4fc5-bab7-5ef3a14fc76e	g.chrX:1743168A>G	ENST00000381229.4	+	3	287	c.251A>G	c.(250-252)tAt>tGt	p.Y84C	ASMT_ENST00000381241.3_Missense_Mutation_p.Y84C|ASMT_ENST00000381233.3_Missense_Mutation_p.Y84C			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	84					cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		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)			Melatonin(DB01065)	TCAGCTTTCTATCGAAACACA	0.537																																						ENST00000381241.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16						c.(250-252)tAt>tGt		acetylserotonin O-methyltransferase							158	152	154					X																	1743168		2203	4296	6499	SO:0001583	missense	438				melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity	g.chrX:1743168A>G	M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"Pseudoautosomal regions / PAR1"	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381229.4:c.251A>G	X.37:g.1743168A>G	ENSP00000370627:p.Tyr84Cys					ASMT_ENST00000381229.4_Missense_Mutation_p.Y84C|ASMT_ENST00000381233.3_Missense_Mutation_p.Y84C	p.Y84C	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN			3	450	+		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)	84					B2RC33|Q16598|Q5JQ72|Q5JQ73	Missense_Mutation	SNP	ENST00000381229.4	37	c.251A>G		.	.	.	.	.	.	.	.	.	.	a	13.20	2.165317	0.38217	.	.	ENSG00000196433	ENST00000381241;ENST00000381229;ENST00000381233	T;T;T	0.72615	-0.67;-0.67;-0.67	1.79	1.79	0.24919	.	0.246868	0.34411	U	0.003995	T	0.78978	0.4369	M	0.89785	3.06	0.09310	N	1	P;P	0.49559	0.859;0.925	P;P	0.52627	0.56;0.704	T	0.70802	-0.4773	10	0.87932	D	0	.	6.8964	0.24259	1.0:0.0:0.0:0.0	.	84;84	P46597-2;P46597-3	.;.	C	84	ENSP00000370639:Y84C;ENSP00000370627:Y84C;ENSP00000370631:Y84C	ENSP00000370627:Y84C	Y	+	2	0	ASMT	1703168	0.932000	0.31603	0.005000	0.12908	0.023000	0.10783	3.243000	0.51392	0.546000	0.28920	0.345000	0.21793	TAT		0.537	ASMT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055612.1	NM_004043		35	96	0	0	0	0.069456	0	35	96					G	1743168	A	G	1743168	3	3	279	1	0	0	0	0	1	0	0	0	1045	449	16	3	261	3	ASMT	23	1743168	Missense_Mutation	SNP	A	TCGA-EM-A1YD-01A-11D-A14W-08		1743168	153527392	8	6047											
GRIK3	2899	broad.mit.edu	37	chr1	37346338	37346338	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtcggggtagaggttcacGtagaaggtgtccttgttgtc	15	6	1	2			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr1:37346338G>A	ENST00000373091.3	-	3	463	c.447C>T	c.(445-447)taC>taT	p.Y149Y	GRIK3_ENST00000373093.4_Silent_p.Y149Y	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	149					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				AGAGGTTCACGTAGAAGGTGT	0.602																																						ENST00000373091.3																			0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(445-447)taC>taT		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						348	300	316					1																	37346338		2203	4300	6503	SO:0001819	synonymous_variant	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37346338G>A	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.447C>T	1.37:g.37346338G>A						GRIK3_ENST00000373093.4_Silent_p.Y149Y	p.Y149Y	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN			3	463	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	149					A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	ENST00000373091.3	37	c.447C>T	CCDS416.1																																																																																				0.602	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		8	82	0	0	0	0.047766	0	8	82					A	37346338	G	A	37346338	2	1	280	1	0	0	0	0	0	0	0	1	6775	1140	40	1		1	GRIK3	1	37346338	Silent	SNP	G	TCGA-EM-A1YE-01A-11D-A14W-08		37346338	211904283	1	6048											
CD1A	909	broad.mit.edu	37	chr1	158225840	158225840	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtgagctgcactctggAaaggtctcaggaagcttctt	13	9	3	1			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr1:158225840A>G	ENST00000289429.5	+	3	905	c.372A>G	c.(370-372)ggA>ggG	p.G124G		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	124					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TGCACTCTGGAAAGGTCTCAG	0.428																																						ENST00000289429.5																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32						c.(370-372)ggA>ggG		CD1a molecule	Antithymocyte globulin(DB00098)						84	81	82					1																	158225840		2203	4300	6503	SO:0001819	synonymous_variant	909				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		g.chr1:158225840A>G	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1634	protein-coding gene	gene with protein product		188370	"CD1A antigen, a polypeptide", "CD1a antigen"	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.372A>G	1.37:g.158225840A>G							p.G124G	NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN			3	905	+	all_hematologic(112;0.0378)		124					D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Silent	SNP	ENST00000289429.5	37	c.372A>G	CCDS1174.1																																																																																				0.428	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		4	79	0	0	0	0.014758	0	4	79					G	158225840	A	G	158225840	2	3	280	1	0	0	0	0	0	0	0	1	2974	233	9	3		3	CD1A	1	158225840	Silent	SNP	A	TCGA-EM-A1YE-01A-11D-A14W-08	120879502	158225840	91024781	2	6049											
DNAH7	56171	broad.mit.edu	37	chr2	196913064	196913064	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaatggttctggactctcaTcatcctgctttacactcaaa	5	11	4	0			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr2:196913064T>C	ENST00000312428.6	-	4	306	c.206A>G	c.(205-207)gAt>gGt	p.D69G	DNAH7_ENST00000410072.1_Missense_Mutation_p.D69G	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	69	Stem. {ECO:0000250}.				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)			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						TGGACTCTCATCATCCTGCTT	0.358																																						ENST00000312428.6																			0				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.(205-207)gAt>gGt		dynein, axonemal, heavy chain 7							128	121	123					2																	196913064		1887	4119	6006	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196913064T>C	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.206A>G	2.37:g.196913064T>C	ENSP00000311273:p.Asp69Gly					DNAH7_ENST00000410072.1_Missense_Mutation_p.D69G	p.D69G	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			4	306	-			69			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.206A>G	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	T	12.07	1.827964	0.32329	.	.	ENSG00000118997	ENST00000312428;ENST00000410072;ENST00000312446;ENST00000427816	T;T	0.24350	1.86;2.76	4.81	2.39	0.29439	.	1.917840	0.02155	N	0.058321	T	0.19765	0.0475	L	0.29908	0.895	0.09310	N	1	B	0.17038	0.02	B	0.14023	0.01	T	0.16217	-1.0410	10	0.27785	T	0.31	.	4.2472	0.10677	0.1757:0.0949:0.0:0.7294	.	69	Q8WXX0	DYH7_HUMAN	G	69;69;69;44	ENSP00000311273:D69G;ENSP00000386260:D69G	ENSP00000311273:D69G	D	-	2	0	DNAH7	196621309	0.004000	0.15560	0.000000	0.03702	0.182000	0.23217	1.502000	0.35704	0.417000	0.25871	0.477000	0.44152	GAT		0.358	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		6	37	0	0	0	0.021553	0	6	37					C	196913064	T	C	196913064	3	2	280	1	0	0	0	0	1	0	0	0	4606	1435	50	3	12116	3	DNAH7	2	196913064	Missense_Mutation	SNP	T	TCGA-EM-A1YE-01A-11D-A14W-08		196913064	46286309	3	6050											
ADAMTS3	9508	broad.mit.edu	37	chr4	73156663	73156663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcacccatgcagtatttgCtgtgcacagagcggttggtg	14	9	1	1			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr4:73156663C>T	ENST00000286657.4	-	20	2876	c.2840G>A	c.(2839-2841)aGc>aAc	p.S947N		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	947	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCAGTATTTGCTGTGCACAGA	0.582																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(2839-2841)aGc>aAc		ADAM metallopeptidase with thrombospondin type 1 motif, 3							147	124	132					4																	73156663		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73156663C>T	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"ADAM metallopeptidases with thrombospondin type 1 motif"	219	protein-coding gene	gene with protein product		605011	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2840G>A	4.37:g.73156663C>T	ENSP00000286657:p.Ser947Asn						p.S947N	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		20	2876	-			947			TSP type-1 3.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.2840G>A	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.659568	0.29515	.	.	ENSG00000156140	ENST00000286657	T	0.60672	0.17	5.42	3.68	0.42216	.	0.226039	0.42682	N	0.000672	T	0.38453	0.1041	L	0.35593	1.075	0.39734	D	0.971643	B	0.09022	0.002	B	0.18263	0.021	T	0.20974	-1.0259	10	0.20046	T	0.44	.	3.0996	0.06322	0.1945:0.5347:0.1202:0.1506	.	947	O15072	ATS3_HUMAN	N	947	ENSP00000286657:S947N	ENSP00000286657:S947N	S	-	2	0	ADAMTS3	73375527	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	1.274000	0.33132	1.286000	0.44565	0.557000	0.71058	AGC		0.582	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			3	79	0	0	0	0.004672	0	3	79					T	73156663	C	T	73156663	3	4	280	1	0	0	0	0	1	0	0	0	267	797	28	2	789	2	ADAMTS3	4	73156663	Missense_Mutation	SNP	C	TCGA-EM-A1YE-01A-11D-A14W-08		73156663	117997613	4	6051											
ARHGAP26	23092	broad.mit.edu	37	chr5	142150381	142150381	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcgatagtccgcacttcCgagagacgctcaagtcgcac	10	15	1	1			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr5:142150381C>T	ENST00000274498.4	+	1	433	c.55C>T	c.(55-57)Cga>Tga	p.R19*	ARHGAP26_ENST00000378004.3_Nonsense_Mutation_p.R19*	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	19					actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCGCACTTCCGAGAGACGCT	0.647																																						ENST00000378004.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25						c.(55-57)Cga>Tga		Rho GTPase activating protein 26							49	43	45					5																	142150381		2203	4300	6503	SO:0001587	stop_gained	23092				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chr5:142150381C>T	AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"Rho GTPase activating proteins"	17073	protein-coding gene	gene with protein product	"GTPase regulator associated with the focal adhesion kinase pp125"	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.55C>T	5.37:g.142150381C>T	ENSP00000274498:p.Arg19*					ARHGAP26_ENST00000274498.4_Nonsense_Mutation_p.R19*	p.R19*	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	410	+		all_hematologic(541;0.0416)	19					O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Nonsense_Mutation	SNP	ENST00000274498.4	37	c.55C>T	CCDS4277.1	.	.	.	.	.	.	.	.	.	.	C	43	10.173406	0.99352	.	.	ENSG00000145819	ENST00000274498;ENST00000378004	.	.	.	5.61	4.73	0.59995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8709	0.70456	0.1449:0.8551:0.0:0.0	.	.	.	.	X	19	.	ENSP00000274498:R19X	R	+	1	2	ARHGAP26	142130565	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	0.931000	0.28871	1.345000	0.45676	0.563000	0.77884	CGA		0.647	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071		5	23	0	0	0	0.014758	0	5	23					T	142150381	C	T	142150381	4	4	280	1	0	0	0	0	0	1	0	0	875	644	23	1	57	1	ARHGAP26	5	142150381	Nonsense_Mutation	SNP	C	TCGA-EM-A1YE-01A-11D-A14W-08		142150381	38764879	5	6052											
TNRC18	84629	broad.mit.edu	37	chr7	5399130	5399130	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atcatgttcctcctcagaccCcttgtgtctctttcttatcc	4	15	4	1			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr7:5399130C>G	ENST00000430969.1	-	15	5080	c.4732G>C	c.(4732-4734)Ggg>Cgg	p.G1578R	TNRC18_ENST00000399537.4_Missense_Mutation_p.G1578R	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1578							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)		TCCTCAGACCCCTTGTGTCTC	0.542																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(4732-4734)Ggg>Cgg		trinucleotide repeat containing 18							215	210	212					7																	5399130		2030	4196	6226	SO:0001583	missense	84629						DNA binding	g.chr7:5399130C>G	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.4732G>C	7.37:g.5399130C>G	ENSP00000395538:p.Gly1578Arg					TNRC18_ENST00000430969.1_Missense_Mutation_p.G1578R	p.G1578R			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	15	5080	-		Ovarian(82;0.142)	1578					A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.4732G>C	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	c	18.04	3.535371	0.64972	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544;ENST00000440081	T;T;T	0.50277	2.69;2.69;0.75	5.53	5.53	0.82687	.	0.000000	0.44483	D	0.000459	T	0.65626	0.2709	M	0.68952	2.095	0.39662	D	0.970621	D	0.89917	1.0	D	0.76575	0.988	T	0.60677	-0.7216	10	0.17369	T	0.5	.	17.6403	0.88133	0.0:1.0:0.0:0.0	.	1578	O15417	TNC18_HUMAN	R	1578;1578;633;68	ENSP00000382452:G1578R;ENSP00000395538:G1578R;ENSP00000395990:G68R	ENSP00000382452:G1578R	G	-	1	0	TNRC18	5365656	1.000000	0.71417	1.000000	0.80357	0.297000	0.27493	5.478000	0.66806	2.596000	0.87737	0.561000	0.74099	GGG		0.542	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				30	139	0	0	0	0.037714	0	30	139					G	5399130	C	G	5399130	3	3	280	1	0	0	0	0	1	0	0	0	16336	623	22	4	4238	4	TNRC18	7	5399130	Missense_Mutation	SNP	C	TCGA-EM-A1YE-01A-11D-A14W-08		5399130	153739533	6	6053											
DGKB	1607	broad.mit.edu	37	chr7	14378197	14378198	+	Frame_Shift_Ins	INS	-	-	T													gtggtccttttgtcagacccINSttttttctctattcgtcgat							TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr7:14378197_14378198insT	ENST00000403951.2	-	23	2486_2487	c.2067_2068insA	c.(2065-2070)aaagggfs	p.G690fs	DGKB_ENST00000399322.3_Frame_Shift_Ins_p.G690fs|DGKB_ENST00000444700.2_Frame_Shift_Ins_p.G671fs|DGKB_ENST00000402815.1_Frame_Shift_Ins_p.G689fs|DGKB_ENST00000406247.3_Frame_Shift_Ins_p.G690fs|DGKB_ENST00000258767.5_Frame_Shift_Ins_p.G690fs|DGKB_ENST00000407950.1_Frame_Shift_Ins_p.G682fs|DGKB_ENST00000403963.1_5'UTR			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	690					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						TTGTCAGACCCTTTTTTCTCTA	0.401																																						ENST00000403951.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2065-2070)aaggtcfs		diacylglycerol kinase, beta 90kDa	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14378197_14378198insT	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"EF-hand domain containing"	2850	protein-coding gene	gene with protein product		604070	"diacylglycerol kinase, beta (90kD)"	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.2068dupA	7.37:g.14378203_14378203dupT	ENSP00000385780:p.Gly690fs					DGKB_ENST00000402815.1_Frame_Shift_Ins_p.V689fs|DGKB_ENST00000399322.3_Frame_Shift_Ins_p.V690fs|DGKB_ENST00000444700.2_Frame_Shift_Ins_p.V671fs|DGKB_ENST00000258767.5_Frame_Shift_Ins_p.V690fs|DGKB_ENST00000407950.1_Frame_Shift_Ins_p.V682fs|DGKB_ENST00000406247.3_Frame_Shift_Ins_p.V690fs|DGKB_ENST00000403963.1_5'UTR	p.V690fs			Q9Y6T7	DGKB_HUMAN			23	2486_2487	-			690					A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Frame_Shift_Ins	INS	ENST00000403951.2	37	c.2067_2068insA	CCDS47547.1																																																																																				0.401	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		29	52						29	52	---	---	---	---	T	14378198	-	T	14378197	7	5	280	1	0	1	1	0	0	0	0	0	4466	681	24	0	377	0	DGKB	7	14378197	Frame_Shift_Ins	INS	-	TCGA-EM-A1YE-01A-11D-A14W-08	8979067	14378197	144760466	7	6054											
METTL2B	55798	broad.mit.edu	37	chr7	128119449	128119449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacaagtgttcttcgaagaGccttgaacataaaacacaga	8	9	1	3			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr7:128119449G>A	ENST00000262432.8	+	3	477	c.440G>A	c.(439-441)aGc>aAc	p.S147N	RP11-212P7.3_ENST00000462662.1_RNA|METTL2B_ENST00000480046.1_Missense_Mutation_p.S82N	NM_018396.2	NP_060866.2	Q6P1Q9	MET2B_HUMAN	methyltransferase like 2B	147					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TCTTCGAAGAGCCTTGAACAT	0.418																																						ENST00000480046.1																			0				breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(244-246)aGc>aAc		methyltransferase like 2B							164	177	173					7																	128119449		2203	4300	6503	SO:0001583	missense	55798						methyltransferase activity	g.chr7:128119449G>A	AK002212	CCDS5803.2	7q32.2	2012-06-12	2006-02-09	2006-02-09	ENSG00000165055	ENSG00000165055			18272	protein-coding gene	gene with protein product		607846	"methyltransferase like 2"	METTL2		11738826	Standard	NM_018396		Approved	METL, FLJ11350	uc003vnf.3	Q6P1Q9	OTTHUMG00000143738	ENST00000262432.8:c.440G>A	7.37:g.128119449G>A	ENSP00000262432:p.Ser147Asn					METTL2B_ENST00000262432.8_Missense_Mutation_p.S147N	p.S82N			Q6P1Q9	MTL2B_HUMAN			2	360	+			147					B4DZ68|Q0IJ54|Q3B7J1	Missense_Mutation	SNP	ENST00000262432.8	37	c.245G>A	CCDS5803.2	.	.	.	.	.	.	.	.	.	.	G	8.159	0.789078	0.16258	.	.	ENSG00000165055	ENST00000462662;ENST00000262432;ENST00000480046	T;D;T	0.82081	2.21;-1.57;2.74	2.65	2.65	0.31530	.	0.971746	0.08556	N	0.928217	T	0.76779	0.4035	L	0.50333	1.59	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.09377	0.004;0.001	T	0.60265	-0.7297	10	0.19590	T	0.45	-4.6257	8.9073	0.35532	0.0:0.0:1.0:0.0	.	82;147	Q6P1Q9-2;Q6P1Q9	.;MTL2B_HUMAN	N	141;147;82	ENSP00000418634:S141N;ENSP00000262432:S147N;ENSP00000418402:S82N	ENSP00000262432:S147N	S	+	2	0	METTL2B	127906685	0.066000	0.20996	0.011000	0.14972	0.116000	0.19942	2.151000	0.42263	1.492000	0.48499	0.405000	0.27470	AGC		0.418	METTL2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289817.1	NM_018396		18	89	0	0	0	0.043863	0	18	89					A	128119449	G	A	128119449	3	1	280	1	0	0	0	0	1	0	0	0	9500	971	34	2	450	2	METTL2B	7	128119449	Missense_Mutation	SNP	G	TCGA-EM-A1YE-01A-11D-A14W-08	113741252	128119449	31019214	8	6055											
OR1J2	26740	broad.mit.edu	37	chr9	125273560	125273560	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagctccctctctcacacCcttctcctgacccggctgtc	6	21	3	1			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr9:125273560C>T	ENST00000335302.5	+	1	480	c.480C>T	c.(478-480)acC>acT	p.T160T		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	160						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)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TCTCTCACACCCTTCTCCTGA	0.537																																						ENST00000335302.5																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						c.(478-480)acC>acT		olfactory receptor, family 1, subfamily J, member 2							198	158	172					9																	125273560		2203	4300	6503	SO:0001819	synonymous_variant	26740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125273560C>T		CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"GPCR / Class A : Olfactory receptors"	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.480C>T	9.37:g.125273560C>T							p.T160T	NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN			1	480	+			160					A3KFL9|Q6IF14|Q96R90|Q9NZP1	Silent	SNP	ENST00000335302.5	37	c.480C>T	CCDS35121.1																																																																																				0.537	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053932.1			8	76	0	0	0	0.047766	0	8	76					T	125273560	C	T	125273560	2	4	280	1	0	0	0	0	0	0	0	1	10960	610	22	2		2	OR1J2	9	125273560	Silent	SNP	C	TCGA-EM-A1YE-01A-11D-A14W-08		125273560	15939871	9	6056											
MYST4	23522	broad.mit.edu	37	chr10	76603076	76603076	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttcagcagcggctgcgacTgggggccaaacgcgctgtga	15	12	1	1			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr10:76603076T>G	ENST00000287239.4	+	3	950	c.461T>G	c.(460-462)cTg>cGg	p.L154R	KAT6B_ENST00000372714.1_Missense_Mutation_p.L154R|KAT6B_ENST00000372725.1_Missense_Mutation_p.L154R|KAT6B_ENST00000372724.1_Missense_Mutation_p.L154R|KAT6B_ENST00000372711.1_Missense_Mutation_p.L154R	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	154	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CGGCTGCGACTGGGGGCCAAA	0.522																																						ENST00000287239.4																			0											c.(460-462)cTg>cGg		K(lysine) acetyltransferase 6B							64	64	64					10																	76603076		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76603076T>G	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	17582	protein-coding gene	gene with protein product	"MOZ-related factor"	605880	"MYST histone acetyltransferase (monocytic leukemia) 4"	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.461T>G	10.37:g.76603076T>G	ENSP00000287239:p.Leu154Arg					KAT6B_ENST00000372711.1_Missense_Mutation_p.L154R|KAT6B_ENST00000372714.1_Missense_Mutation_p.L154R|KAT6B_ENST00000372725.1_Missense_Mutation_p.L154R|KAT6B_ENST00000372724.1_Missense_Mutation_p.L154R	p.L154R	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			3	950	+			154			H15.		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.461T>G	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	T	16.38	3.106008	0.56291	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95	6.04	6.04	0.98038	.	0.000000	0.35970	N	0.002868	T	0.49847	0.1581	M	0.77103	2.36	0.34845	D	0.741092	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.64807	-0.6320	10	0.87932	D	0	-6.3665	16.5885	0.84745	0.0:0.0:0.0:1.0	.	154;154;154	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	R	154	ENSP00000361810:L154R;ENSP00000361809:L154R;ENSP00000287239:L154R;ENSP00000361799:L154R;ENSP00000361796:L154R	ENSP00000287239:L154R	L	+	2	0	KAT6B	76273082	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.698000	0.84413	2.317000	0.78254	0.460000	0.39030	CTG		0.522	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		3	63	0	0	0	0.004672	0	3	63					G	76603076	T	G	76603076	3	3	280	1	0	0	0	0	1	0	0	0	10105	1580	55	5	463	5	MYST4	10	76603076	Missense_Mutation	SNP	T	TCGA-EM-A1YE-01A-11D-A14W-08		76603076	58931671	10	6057											
FAM86C	55199	broad.mit.edu	37	chr11	71502813	71502813	+	Intron	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatcctgtgtgtgtgaagcAcccgccgtcagtcaagtatg	12	11	2	1	rs200557451	byFrequency	TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr11:71502813A>C	ENST00000359244.4	+	3	182				FAM86C1_ENST00000426628.2_Missense_Mutation_p.H63P|FAM86C1_ENST00000346333.6_Intron	NM_018172.2	NP_060642.2	Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1									p.H63P(1)		lung(1)	1						TGTGTGAAGCACCCGCCGTCA	0.532																																						ENST00000426628.2																			1	Substitution - Missense(1)	p.H63P(1)	kidney(1)	lung(1)	1						c.(187-189)cAc>cCc		family with sequence similarity 86, member C1							89	89	89					11																	71502813		2200	4293	6493	SO:0001627	intron_variant	55199							g.chr11:71502813A>C	AK130709	CCDS8202.1, CCDS41686.1, CCDS44664.1	11q13.4	2011-07-07	2011-07-07	2011-07-07	ENSG00000158483	ENSG00000158483			25561	protein-coding gene	gene with protein product			"family with sequence similarity 86, member C"	FAM86C		12477932	Standard	NM_152563		Approved	FLJ10661, FLJ27199	uc001oqv.4	Q9NVL1	OTTHUMG00000160552	ENST00000359244.4:c.160-1613A>C	11.37:g.71502813A>C						FAM86C1_ENST00000528685.1_Intron|FAM86C1_ENST00000359244.4_Intron|FAM86C1_ENST00000346333.6_Intron	p.H63P	NM_001099653.1	NP_001093123.1	Q9NVL1	FA86C_HUMAN			3	207	+			60					Q8N5D3	Missense_Mutation	SNP	ENST00000359244.4	37	c.188A>C	CCDS41686.1	.	.	.	.	.	.	.	.	.	.	.	16.03	3.008016	0.54361	.	.	ENSG00000158483	ENST00000426628	T	0.25085	1.82	2.05	2.05	0.26809	.	.	.	.	.	T	0.32194	0.0821	.	.	.	0.80722	D	1	D	0.55172	0.97	P	0.51701	0.677	T	0.10520	-1.0626	8	0.66056	D	0.02	.	6.0007	0.19519	1.0:0.0:0.0:0.0	.	63	G3V0F7	.	P	63	ENSP00000391329:H63P	ENSP00000391329:H63P	H	+	2	0	FAM86C1	71180461	1.000000	0.71417	0.701000	0.30321	0.557000	0.35523	2.025000	0.41059	0.937000	0.37394	0.155000	0.16302	CAC		0.532	FAM86C1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361120.1	NM_152563		4	40	0	0	0	0.038147	0	4	40					C	71502813	A	C	71502813	1	2	280	0	1	0	0	0	0	0	0	0	5646	159	6	5		5	FAM86C	11	71502813	Intron	SNP	A	TCGA-EM-A1YE-01A-11D-A14W-08		71502813	63503703	11	6058											
MSI1	4440	broad.mit.edu	37	chr12	120802533	120802533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaccttgggctgtgctcgcCgagggaaggccaccttaggg	15	12	0	0			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr12:120802533C>T	ENST00000257552.2	-	5	381	c.293G>A	c.(292-294)cGg>cAg	p.R98Q		NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	98	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGTGCTCGCCGAGGGAAGGC	0.522																																						ENST00000257552.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19						c.(292-294)cGg>cAg		musashi RNA-binding protein 1							180	178	179					12																	120802533		2203	4300	6503	SO:0001583	missense	4440				nervous system development	cytoplasm|nucleus	nucleotide binding	g.chr12:120802533C>T	AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"RNA binding motif (RRM) containing"	7330	protein-coding gene	gene with protein product		603328	"Musashi (Drosophila) homolog 1", "musashi homolog 1 (Drosophila)"			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.293G>A	12.37:g.120802533C>T	ENSP00000257552:p.Arg98Gln						p.R98Q	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN			5	381	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		98			RRM 1.		Q96PU0|Q96PU1|Q96PU2|Q96PU3	Missense_Mutation	SNP	ENST00000257552.2	37	c.293G>A	CCDS9196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.157859|5.157859	0.94686|0.94686	.|.	.|.	ENSG00000135097|ENSG00000135097	ENST00000546985|ENST00000257552	.|D	.|0.88664	.|-2.41	5.26|5.26	5.26|5.26	0.73747|0.73747	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	.|0.072118	.|0.53938	.|D	.|0.000045	D|D	0.93449|0.93449	0.7910|0.7910	M|M	0.64260|0.64260	1.97|1.97	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.68353	.|0.957	D|D	0.94038|0.94038	0.7307|0.7307	5|10	.|0.87932	.|D	.|0	.|.	18.4997|18.4997	0.90877|0.90877	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|98	.|O43347	.|MSI1H_HUMAN	S|Q	30|98	.|ENSP00000257552:R98Q	.|ENSP00000257552:R98Q	G|R	-|-	1|2	0|0	MSI1|MSI1	119286916|119286916	1.000000|1.000000	0.71417|0.71417	0.937000|0.937000	0.37676|0.37676	0.886000|0.886000	0.51366|0.51366	7.398000|7.398000	0.79919|0.79919	2.462000|2.462000	0.83206|0.83206	0.455000|0.455000	0.32223|0.32223	GGC|CGG		0.522	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403629.1	NM_002442		46	90	0	0	0	0.048971	0	46	90					T	120802533	C	T	120802533	3	4	280	1	0	0	0	0	1	0	0	0	9875	652	23	1	835	1	MSI1	12	120802533	Missense_Mutation	SNP	C	TCGA-EM-A1YE-01A-11D-A14W-08		120802533	13049362	12	6059											
CDC6	990	broad.mit.edu	37	chr17	38451657	38451657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagttcaattctgtgcccGcaaagtctctgctgtttcag	9	11	4	0	rs4135016	byFrequency	TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr17:38451657G>A	ENST00000209728.4	+	8	1604	c.1133G>A	c.(1132-1134)cGc>cAc	p.R378H		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	378			R -> H (in dbSNP:rs4135016). {ECO:0000269|Ref.3}.		DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						TTCTGTGCCCGCAAAGTCTCT	0.403													G|||	3	0.000599042	0.0023	0	5008	,	,		17068	0		0	False		,,,				2504	0					ENST00000209728.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						c.(1132-1134)cGc>cAc		cell division cycle 6		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	202	186	191		1133	6.0	1.0	17	dbSNP_108	191	0,8600		0,0,4300	yes	missense	CDC6	NM_001254.3	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	378/561	38451657	2,13004	2203	4300	6503	SO:0001583	missense	990				cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity	g.chr17:38451657G>A	U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"CDC6 (cell division cycle 6, S. cerevisiae) homolog", "CDC6 cell division cycle 6 homolog (S. cerevisiae)", "cell division cycle 6 homolog (S. cerevisiae)"	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.1133G>A	17.37:g.38451657G>A	ENSP00000209728:p.Arg378His						p.R378H	NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN			8	1604	+			378		R -> H (in dbSNP:rs4135016).			Q8TB30	Missense_Mutation	SNP	ENST00000209728.4	37	c.1133G>A	CCDS11365.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	32	5.111037	0.94339	4.54E-4	0.0	ENSG00000094804	ENST00000209728	T	0.57907	0.37	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.81847	0.4909	H	0.95504	3.68	0.58432	D	0.999991	D	0.89917	1.0	D	0.77004	0.989	D	0.86213	0.1626	10	0.72032	D	0.01	-35.3611	19.185	0.93639	0.0:0.0:1.0:0.0	rs4135016;rs4135016	378	Q99741	CDC6_HUMAN	H	378	ENSP00000209728:R378H	ENSP00000209728:R378H	R	+	2	0	CDC6	35705183	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.582000	0.90791	2.835000	0.97688	0.591000	0.81541	CGC		0.403	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257129.1			4	117	0	0	0	0.014758	0	4	117					A	38451657	G	A	38451657	3	1	280	1	0	0	0	0	1	0	0	0	3083	1087	38	1	1159	1	CDC6	17	38451657	Missense_Mutation	SNP	G	TCGA-EM-A1YE-01A-11D-A14W-08		38451657	42743553	13	6060											
ACLY	47	broad.mit.edu	37	chr17	40034394	40034394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgggcacggttgggggcgGcacctcctgggcaggtacaa	17	11	0	0			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr17:40034394G>A	ENST00000352035.2	-	22	2579	c.2449C>T	c.(2449-2451)Ccg>Tcg	p.P817S	ACLY_ENST00000353196.1_Missense_Mutation_p.P807S|ACLY_ENST00000393896.2_Missense_Mutation_p.P807S|ACLY_ENST00000537919.1_Missense_Mutation_p.P546S|ACLY_ENST00000590151.1_Missense_Mutation_p.P817S	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	817					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GTTGGGGGCGGCACCTCCTGG	0.522																																					Colon(64;807 1396 15971 30971)	ENST00000352035.2																		NTN1/ACLY(2)	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(2449-2451)Ccg>Tcg		ATP citrate lyase							44	37	40					17																	40034394		2203	4300	6503	SO:0001583	missense	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40034394G>A	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"ATP citrate synthase"	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.2449C>T	17.37:g.40034394G>A	ENSP00000253792:p.Pro817Ser					ACLY_ENST00000590151.1_Missense_Mutation_p.P817S|ACLY_ENST00000393896.2_Missense_Mutation_p.P807S|ACLY_ENST00000353196.1_Missense_Mutation_p.P807S|ACLY_ENST00000537919.1_Missense_Mutation_p.P546S	p.P817S	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN			22	2579	-		Breast(137;0.000143)	817					B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	ENST00000352035.2	37	c.2449C>T	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326606	0.81690	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	5.69	5.69	0.88448	Citrate synthase-like, core (1);	0.000000	0.85682	D	0.000000	T	0.57814	0.2079	M	0.86268	2.805	0.80722	D	1	D;D;D;P;D	0.76494	0.999;0.974;0.999;0.813;0.999	D;P;D;B;D	0.73708	0.974;0.48;0.981;0.423;0.974	T	0.59894	-0.7368	10	0.49607	T	0.09	.	19.8215	0.96599	0.0:0.0:1.0:0.0	.	546;861;871;807;817	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	S	817;871;807;546;807	ENSP00000253792:P817S;ENSP00000345398:P807S;ENSP00000445349:P546S;ENSP00000377474:P807S	ENSP00000253792:P817S	P	-	1	0	ACLY	37287920	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	9.807000	0.99171	2.679000	0.91253	0.650000	0.86243	CCG		0.522	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		3	34	0	0	0	0.004672	0	3	34					A	40034394	G	A	40034394	3	1	280	1	0	0	0	0	1	0	0	0	143	1203	42	2	888	2	ACLY	17	40034394	Missense_Mutation	SNP	G	TCGA-EM-A1YE-01A-11D-A14W-08	1582737	40034394	41160816	14	6061											
ZC3H4	23211	broad.mit.edu	37	chr19	47570455	47570455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcgcccgggcgctgccGggcgttggggggccctgccg	22	14	0	0			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr19:47570455G>A	ENST00000253048.5	-	15	3107	c.3070C>T	c.(3070-3072)Cgg>Tgg	p.R1024W	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1024							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GGGCGCTGCCGGGCGTTGGGG	0.706																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(3070-3072)Cgg>Tgg		zinc finger CCCH-type containing 4							14	17	16					19																	47570455		1809	4040	5849	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47570455G>A	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.3070C>T	19.37:g.47570455G>A	ENSP00000253048:p.Arg1024Trp					ZC3H4_ENST00000594019.1_5'UTR	p.R1024W	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	15	3107	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	1024					Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.3070C>T	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699618	0.48307	.	.	ENSG00000130749	ENST00000253048	T	0.19250	2.16	5.23	4.18	0.49190	.	0.691249	0.13538	N	0.380446	T	0.37128	0.0992	L	0.44542	1.39	0.41505	D	0.9883	D	0.89917	1.0	D	0.66847	0.947	T	0.08006	-1.0743	10	0.62326	D	0.03	.	12.724	0.57159	0.0:0.0:0.7019:0.298	.	1024	Q9UPT8	ZC3H4_HUMAN	W	1024	ENSP00000253048:R1024W	ENSP00000253048:R1024W	R	-	1	2	ZC3H4	52262295	1.000000	0.71417	0.988000	0.46212	0.114000	0.19823	1.272000	0.33109	1.315000	0.45114	0.558000	0.71614	CGG		0.706	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			12	9	0	0	0	0.105934	0	12	9					A	47570455	G	A	47570455	3	1	280	1	0	0	0	0	1	0	0	0	17567	1115	39	1	845	1	ZC3H4	19	47570455	Missense_Mutation	SNP	G	TCGA-EM-A1YE-01A-11D-A14W-08		47570455	11558528	15	6062											
MKL1	57591	broad.mit.edu	37	chr22	40815091	40815091	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggtgggagacacgggggGcgtggagcccgtgctgccaa	22	9	0	1			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr22:40815091G>A	ENST00000355630.3	-	12	1941	c.1351C>T	c.(1351-1353)Ccc>Tcc	p.P451S	MKL1_ENST00000396617.3_Missense_Mutation_p.P451S|MKL1_ENST00000407029.1_Missense_Mutation_p.P451S|MKL1_ENST00000402042.1_Missense_Mutation_p.P401S	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	451					negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GACACGGGGGGCGTGGAGCCC	0.677			T	RBM15	acute megakaryocytic leukemia																																	ENST00000396617.3				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(1351-1353)Ccc>Tcc		megakaryoblastic leukemia (translocation) 1							14	13	13					22																	40815091		2195	4292	6487	SO:0001583	missense	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40815091G>A	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"megakaryocytic acute leukemia", "myocardin-related transcription factor A", "basic, SAP and coiled-coil domain"	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.1351C>T	22.37:g.40815091G>A	ENSP00000347847:p.Pro451Ser					MKL1_ENST00000402042.1_Missense_Mutation_p.P401S|MKL1_ENST00000355630.3_Missense_Mutation_p.P451S|MKL1_ENST00000407029.1_Missense_Mutation_p.P451S	p.P451S			Q969V6	MKL1_HUMAN			12	1941	-			451					Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.1351C>T	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.754194	0.31046	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029	T;T;T;T	0.58358	0.44;0.34;0.34;0.44	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.67739	0.2925	M	0.91663	3.23	0.80722	D	1	D;B;P	0.53312	0.959;0.376;0.883	P;B;B	0.50109	0.631;0.073;0.327	T	0.71411	-0.4601	10	0.09084	T	0.74	-26.6888	18.3103	0.90197	0.0:0.0:1.0:0.0	.	401;451;451	B0QY83;E7ER32;Q969V6	.;.;MKL1_HUMAN	S	451;451;401;451	ENSP00000347847:P451S;ENSP00000379861:P451S;ENSP00000385584:P401S;ENSP00000385835:P451S	ENSP00000347847:P451S	P	-	1	0	MKL1	39145037	1.000000	0.71417	0.586000	0.28679	0.257000	0.26127	7.802000	0.85969	2.553000	0.86117	0.655000	0.94253	CCC		0.677	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		5	3	0	0	0	0.014758	0	5	3					A	40815091	G	A	40815091	3	1	280	1	0	0	0	0	1	0	0	0	9601	1203	42	2	1460	2	MKL1	22	40815091	Missense_Mutation	SNP	G	TCGA-EM-A1YE-01A-11D-A14W-08		40815091	10489475	16	6063											
PKD1L1	168507	broad.mit.edu	37	chr7	47944122	47944122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaggagggggacgtgagcCgattggccacaattttcttc	14	9	1	2	rs200343133		TCGA-EM-A22I-01A-11D-A17V-08	TCGA-EM-A22I-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0636a7b-490a-44e0-8512-062c989896ce	db5dcc71-4c5c-4843-9048-3c25cf68feb4	g.chr7:47944122C>T	ENST00000289672.2	-	12	1834	c.1784G>A	c.(1783-1785)cGg>cAg	p.R595Q		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	595	PKD 2. {ECO:0000255|PROSITE- ProRule:PRU00151}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGACGTGAGCCGATTGGCCAC	0.537													C|||	1	0.000199681	0	0	5008	,	,		20323	0.001		0	False		,,,				2504	0					ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(1783-1785)cGg>cAg		polycystic kidney disease 1 like 1							104	79	88					7																	47944122		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47944122C>T	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.1784G>A	7.37:g.47944122C>T	ENSP00000289672:p.Arg595Gln						p.R595Q	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			12	1834	-			595			PKD 2.		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.1784G>A	CCDS34633.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	19.59	3.855285	0.71719	.	.	ENSG00000158683	ENST00000289672	T	0.67345	-0.26	5.12	5.12	0.69794	PKD/Chitinase domain (1);PKD domain (1);	0.585786	0.15551	N	0.256403	T	0.81498	0.4835	M	0.75447	2.3	0.30744	N	0.745903	D	0.89917	1.0	D	0.78314	0.991	T	0.79029	-0.1970	10	0.42905	T	0.14	-27.1029	16.4699	0.84109	0.0:1.0:0.0:0.0	.	595	Q8TDX9	PK1L1_HUMAN	Q	595	ENSP00000289672:R595Q	ENSP00000289672:R595Q	R	-	2	0	PKD1L1	47910647	0.962000	0.33011	0.141000	0.22245	0.511000	0.34104	4.880000	0.63107	2.576000	0.86940	0.585000	0.79938	CGG		0.537	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		15	39	0	0	0	0.006122	0	15	39					T	47944122	C	T	47944122	3	4	281	1	0	0	0	0	1	0	0	0	11964	652	23	1	6949	1	PKD1L1	7	47944122	Missense_Mutation	SNP	C	TCGA-EM-A22I-01A-11D-A17V-08		47944122	111194541	1	6064											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A22I-01A-11D-A17V-08	TCGA-EM-A22I-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0636a7b-490a-44e0-8512-062c989896ce	db5dcc71-4c5c-4843-9048-3c25cf68feb4	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		9	25	0	0	0	0.010729	0	9	25					T	140453136	A	T	140453136	3	4	281	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A22I-01A-11D-A17V-08	92509014	140453136	18685527	2	6065											
LRRCC1	85444	broad.mit.edu	37	chr8	86050374	86050374	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaatcttcacaactggaTgaggtacttgagaagttgga	11	5	2	2			TCGA-EM-A22I-01A-11D-A17V-08	TCGA-EM-A22I-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0636a7b-490a-44e0-8512-062c989896ce	db5dcc71-4c5c-4843-9048-3c25cf68feb4	g.chr8:86050374T>A	ENST00000360375.3	+	16	2747	c.2598T>A	c.(2596-2598)gaT>gaA	p.D866E	LRRCC1_ENST00000414626.2_Missense_Mutation_p.D846E	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	866					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						CACAACTGGATGAGGTACTTG	0.318																																						ENST00000414626.2																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						c.(2536-2538)gaT>gaA		leucine rich repeat and coiled-coil centrosomal protein 1							39	36	37					8																	86050374		1820	4080	5900	SO:0001583	missense	85444				cell division|mitosis	centriole|nucleus		g.chr8:86050374T>A	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"centrosomal leucine-rich repeat and coiled-coil containing protein", "variable number of flagella 1 homolog (Chlamydomonas)"		"leucine rich repeat and coiled-coil domain containing 1"			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.2598T>A	8.37:g.86050374T>A	ENSP00000353538:p.Asp866Glu					LRRCC1_ENST00000360375.3_Missense_Mutation_p.D866E	p.D846E			Q9C099	LRCC1_HUMAN			15	3427	+			866					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	c.2538T>A	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.819591	0.00595	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.27104	1.69;1.69	5.58	4.38	0.52667	.	0.000000	0.39475	N	0.001353	T	0.13670	0.0331	L	0.27053	0.805	0.20821	N	0.999846	B;B;B	0.26975	0.165;0.095;0.012	B;B;B	0.24155	0.032;0.051;0.005	T	0.26815	-1.0092	10	0.02654	T	1	-26.3555	9.6618	0.39960	0.2658:0.0:0.0:0.7342	.	846;773;866	Q9C099-2;E9PE41;Q9C099	.;.;LRCC1_HUMAN	E	866;846	ENSP00000353538:D866E;ENSP00000394695:D846E	ENSP00000353538:D866E	D	+	3	2	LRRCC1	86237626	0.958000	0.32768	0.900000	0.35374	0.008000	0.06430	1.221000	0.32503	2.118000	0.64928	0.528000	0.53228	GAT		0.318	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		11	12	0	0	0	0.013537	0	11	12					A	86050374	T	A	86050374	3	1	281	1	0	0	0	0	1	0	0	0	9026	1461	51	5	2660	5	LRRCC1	8	86050374	Missense_Mutation	SNP	T	TCGA-EM-A22I-01A-11D-A17V-08		86050374	60313648	3	6066											
OPLAH	26873	broad.mit.edu	37	chr8	145113595	145113595	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgctcatgctgggcccacCtatgacaaaaacccagtggc	10	14	1	1			TCGA-EM-A22I-01A-11D-A17V-08	TCGA-EM-A22I-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0636a7b-490a-44e0-8512-062c989896ce	db5dcc71-4c5c-4843-9048-3c25cf68feb4	g.chr8:145113595C>T	ENST00000426825.1	-	6	669		c.e6-1		OPLAH_ENST00000534424.1_Splice_Site	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)						glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-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;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGGGCCCACCTATGACAAAA	0.657																																						ENST00000426825.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.e6-1		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)						28	35	33					8																	145113595		2165	4263	6428	SO:0001630	splice_region_variant	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145113595C>T	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.588-1G>A	8.37:g.145113595C>T						OPLAH_ENST00000534424.1_Splice_Site		NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		6	669	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)							A5PKY8|Q75W65|Q9Y4Q0	Splice_Site	SNP	ENST00000426825.1	37			.	.	.	.	.	.	.	.	.	.	C	14.61	2.588016	0.46110	.	.	ENSG00000178814	ENST00000426825	.	.	.	4.38	4.38	0.52667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4249	0.67207	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	OPLAH	145185583	1.000000	0.71417	0.970000	0.41538	0.398000	0.30690	4.109000	0.57824	1.988000	0.58038	0.561000	0.74099	.		0.657	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570	Intron	4	21	0	0	0	0.009096	0	4	21					T	145113595	C	T	145113595	5	4	281	1	0	0	0	0	0	0	1	0	10876	695	24	2	3369	2	OPLAH	8	145113595	Splice_Site	SNP	C	TCGA-EM-A22I-01A-11D-A17V-08	59063221	145113595	1250427	4	6067											
RC3H2	54542	broad.mit.edu	37	chr9	125639844	125639844	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcggcacatgctagtcttgtAtttgctgtttggctgaggct	12	8	1	1			TCGA-EM-A22I-01A-11D-A17V-08	TCGA-EM-A22I-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0636a7b-490a-44e0-8512-062c989896ce	db5dcc71-4c5c-4843-9048-3c25cf68feb4	g.chr9:125639844A>G	ENST00000373670.1	-	8	1831	c.1231T>C	c.(1231-1233)Tac>Cac	p.Y411H	RC3H2_ENST00000335387.5_Missense_Mutation_p.Y411H|RC3H2_ENST00000423239.2_Missense_Mutation_p.Y411H|RC3H2_ENST00000373665.2_Missense_Mutation_p.Y411H|RC3H2_ENST00000357244.2_Missense_Mutation_p.Y411H|SNORD90_ENST00000391145.1_RNA			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	411					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CTAGTCTTGTATTTGCTGTTT	0.418																																						ENST00000373670.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1231-1233)Tac>Cac		ring finger and CCCH-type domains 2							207	199	202					9																	125639844		1898	4128	6026	SO:0001583	missense	54542					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	g.chr9:125639844A>G	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	21461	protein-coding gene	gene with protein product		615231	"membrane associated DNA binding protein", "ring finger and CCCH-type zinc finger domains 2"	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.1231T>C	9.37:g.125639844A>G	ENSP00000362774:p.Tyr411His					RC3H2_ENST00000357244.2_Missense_Mutation_p.Y411H|RC3H2_ENST00000335387.5_Missense_Mutation_p.Y411H|RC3H2_ENST00000423239.2_Missense_Mutation_p.Y411H|RC3H2_ENST00000373665.2_Missense_Mutation_p.Y411H	p.Y411H			Q9HBD1	RC3H2_HUMAN			8	1831	-			411					Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	c.1231T>C	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.720573	0.89205	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239;ENST00000373665;ENST00000335387	T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52	5.3	5.3	0.74995	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.73528	0.3598	M	0.81802	2.56	0.54753	D	0.999989	D;D;D;D	0.89917	1.0;1.0;0.997;0.997	D;D;D;D	0.85130	0.997;0.995;0.992;0.986	T	0.78016	-0.2369	10	0.87932	D	0	-12.1453	14.4128	0.67128	1.0:0.0:0.0:0.0	.	411;282;411;411	A6NHN2;Q4VXB0;Q9HBD1;Q9HBD1-4	.;.;RC3H2_HUMAN;.	H	411;411;282;411;411;411	ENSP00000362774:Y411H;ENSP00000349783:Y411H;ENSP00000411767:Y411H;ENSP00000362769:Y411H;ENSP00000335150:Y411H	ENSP00000335150:Y411H	Y	-	1	0	RC3H2	124679665	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.331000	0.96430	2.023000	0.59567	0.467000	0.42956	TAC		0.418	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		7	176	0	0	0	0.006214	0	7	176					G	125639844	A	G	125639844	3	3	281	1	0	0	0	0	1	0	0	0	13167	449	16	3	2474	3	RC3H2	9	125639844	Missense_Mutation	SNP	A	TCGA-EM-A22I-01A-11D-A17V-08		125639844	15573587	5	6068											
ANAPC2	29882	broad.mit.edu	37	chr9	140074764	140074764	+	Missense_Mutation	SNP	G	G	A													agcgtagaccccgaacggtgGctgctcctctgctggccgct							TCGA-EM-A22I-01A-11D-A17V-08	TCGA-EM-A22I-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0636a7b-490a-44e0-8512-062c989896ce	db5dcc71-4c5c-4843-9048-3c25cf68feb4	g.chr9:140074764G>A	ENST00000323927.2	-	10	1763	c.1759C>T	c.(1759-1761)Cca>Tca	p.P587S		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	587					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CCGAACGGTGGCTGCTCCTCT	0.642																																						ENST00000323927.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15						c.(1759-1761)Cca>Tca		anaphase promoting complex subunit 2							68	64	65					9																	140074764		2203	4300	6503	SO:0001583	missense	29882				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr9:140074764G>A	AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"Anaphase promoting complex subunits"	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.1759C>T	9.37:g.140074764G>A	ENSP00000314004:p.Pro587Ser						p.P587S	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)	10	1763	-	all_cancers(76;0.0926)		587					Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	SNP	ENST00000323927.2	37	c.1759C>T	CCDS7033.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249763	0.39797	.	.	ENSG00000176248	ENST00000323927	T	0.74002	-0.8	4.79	3.82	0.43975	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	T	0.60038	0.2238	L	0.34521	1.04	0.80722	D	1	B;B	0.12630	0.006;0.005	B;B	0.21151	0.033;0.019	T	0.52939	-0.8508	10	0.08837	T	0.75	-20.7154	12.1266	0.53920	0.0:0.1749:0.8251:0.0	.	587;584	Q9UJX6;Q9UJX6-2	ANC2_HUMAN;.	S	587	ENSP00000314004:P587S	ENSP00000314004:P587S	P	-	1	0	ANAPC2	139194585	1.000000	0.71417	0.984000	0.44739	0.698000	0.40448	5.651000	0.67951	2.202000	0.70862	0.462000	0.41574	CCA		0.642	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	NM_013366		4	77	0	0	0	0.009096	0	4	77					A	140074764	G	A	140074764	3	1	281	1	0	0	0	0	1	0	0	0	603	1203	42	2	725	2	ANAPC2	9	140074764	Missense_Mutation	SNP	G	TCGA-EM-A22I-01A-11D-A17V-08	14434920	140074764	1138667	6	6069	32	2									
ANAPC2	29882	broad.mit.edu	37	chr9	140074765	140074765	+	Silent	SNP	C	C	T													gcgtagaccccgaacggtggCtgctcctctgctggccgctt							TCGA-EM-A22I-01A-11D-A17V-08	TCGA-EM-A22I-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0636a7b-490a-44e0-8512-062c989896ce	db5dcc71-4c5c-4843-9048-3c25cf68feb4	g.chr9:140074765C>T	ENST00000323927.2	-	10	1762	c.1758G>A	c.(1756-1758)caG>caA	p.Q586Q		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	586					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CGAACGGTGGCTGCTCCTCTG	0.647																																						ENST00000323927.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15						c.(1756-1758)caG>caA		anaphase promoting complex subunit 2							67	63	65					9																	140074765		2203	4300	6503	SO:0001819	synonymous_variant	29882				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr9:140074765C>T	AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"Anaphase promoting complex subunits"	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.1758G>A	9.37:g.140074765C>T							p.Q586Q	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)	10	1762	-	all_cancers(76;0.0926)		586					Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Silent	SNP	ENST00000323927.2	37	c.1758G>A	CCDS7033.1																																																																																				0.647	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	NM_013366		4	76	0	0	0	0.009096	0	4	76					T	140074765	C	T	140074765	2	4	281	1	0	0	0	0	0	0	0	1	603	796	28	2		2	ANAPC2	9	140074765	Silent	SNP	C	TCGA-EM-A22I-01A-11D-A17V-08	1	140074765	1138666	7	6070	32	2									
C10orf99	387695	broad.mit.edu	37	chr10	85944480	85944480	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgcaagcttgagccagaGccccgcctttgggtggtgcc	13	14	0	2			TCGA-EM-A22I-01A-11D-A17V-08	TCGA-EM-A22I-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0636a7b-490a-44e0-8512-062c989896ce	db5dcc71-4c5c-4843-9048-3c25cf68feb4	g.chr10:85944480G>A	ENST00000372126.3	+	3	318	c.204G>A	c.(202-204)gaG>gaA	p.E68E	C10orf99_ENST00000472542.1_Intron	NM_207373.2	NP_997256.1	Q6UWK7	CJ099_HUMAN	chromosome 10 open reading frame 99	68						extracellular region (GO:0005576)				endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						TTGAGCCAGAGCCCCGCCTTT	0.577																																						ENST00000372126.3																			0				endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						c.(202-204)gaG>gaA		chromosome 10 open reading frame 99							89	80	83					10																	85944480		2203	4300	6503	SO:0001819	synonymous_variant	387695					extracellular region		g.chr10:85944480G>A	AY358751	CCDS7371.1	10q23.2	2014-04-16			ENSG00000188373	ENSG00000188373			31428	protein-coding gene	gene with protein product						12975309	Standard	NM_207373		Approved	UNQ1833, RLLV1833, FLJ21763	uc001kcu.3	Q6UWK7	OTTHUMG00000018635	ENST00000372126.3:c.204G>A	10.37:g.85944480G>A						C10orf99_ENST00000472542.1_Intron	p.E68E	NM_207373.2	NP_997256.1	Q6UWK7	CJ099_HUMAN			3	318	+			68						Silent	SNP	ENST00000372126.3	37	c.204G>A	CCDS7371.1																																																																																				0.577	C10orf99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049114.1	NM_207373		5	60	0	0	0	0.001168	0	5	60					A	85944480	G	A	85944480	2	1	281	1	0	0	0	0	0	0	0	1	1628	962	34	2		2	C10orf99	10	85944480	Silent	SNP	G	TCGA-EM-A22I-01A-11D-A17V-08		85944480	49590267	8	6071											
ZFHX3	463	broad.mit.edu	37	chr16	72831798	72831798	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acaagtgttacacttaaaagGtttgttgtctgggctgctgg	12	6	1	0			TCGA-EM-A22I-01A-11D-A17V-08	TCGA-EM-A22I-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0636a7b-490a-44e0-8512-062c989896ce	db5dcc71-4c5c-4843-9048-3c25cf68feb4	g.chr16:72831798G>C	ENST00000268489.5	-	9	5455	c.4783C>G	c.(4783-4785)Cct>Gct	p.P1595A	ZFHX3_ENST00000397992.5_Missense_Mutation_p.P681A	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1595					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)				CACTTAAAAGGTTTGTTGTCT	0.488																																						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.(4783-4785)Cct>Gct		zinc finger homeobox 3							64	63	63					16																	72831798		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.chr16:72831798G>C	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.4783C>G	16.37:g.72831798G>C	ENSP00000268489:p.Pro1595Ala					ZFHX3_ENST00000397992.5_Missense_Mutation_p.P681A	p.P1595A	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	5455	-		Ovarian(137;0.13)	1595					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.4783C>G	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993973	0.54041	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.34667	1.35;1.35	5.78	5.78	0.91487	Zinc finger, U1-type (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49916	D	0.000132	T	0.56558	0.1993	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.51741	-0.8667	10	0.54805	T	0.06	.	20.3668	0.98882	0.0:0.0:1.0:0.0	.	1595	Q15911	ZFHX3_HUMAN	A	1595;681	ENSP00000268489:P1595A;ENSP00000438926:P681A	ENSP00000268489:P1595A	P	-	1	0	ZFHX3	71389299	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.894000	0.99253	0.655000	0.94253	CCT		0.488	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		21	48	0	0	0	0.010504	0	21	48					C	72831798	G	C	72831798	3	2	281	1	0	0	0	0	1	0	0	0	17631	1261	44	4	6336	4	ZFHX3	16	72831798	Missense_Mutation	SNP	G	TCGA-EM-A22I-01A-11D-A17V-08		72831798	17522955	9	6072											
CACNB1	782	broad.mit.edu	37	chr17	37333738	37333738	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaagtactccgccagatgCtcgcaggcatcctccaattg	8	15	0	1			TCGA-EM-A22I-01A-11D-A17V-08	TCGA-EM-A22I-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0636a7b-490a-44e0-8512-062c989896ce	db5dcc71-4c5c-4843-9048-3c25cf68feb4	g.chr17:37333738C>T	ENST00000394303.3	-	13	1404	c.1197G>A	c.(1195-1197)gaG>gaA	p.E399E	CACNB1_ENST00000344140.5_Silent_p.E444E|RP5-906A24.2_ENST00000579256.1_RNA|CACNB1_ENST00000394310.3_Silent_p.E399E	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	399					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CCGCCAGATGCTCGCAGGCAT	0.607																																					Esophageal Squamous(5;100 366 38393 41452 45827)	ENST00000394303.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						c.(1195-1197)gaG>gaA		calcium channel, voltage-dependent, beta 1 subunit	Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)						68	58	62					17																	37333738		2203	4300	6503	SO:0001819	synonymous_variant	782				axon guidance	voltage-gated calcium channel complex		g.chr17:37333738C>T		CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"Calcium channel subunits"	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.1197G>A	17.37:g.37333738C>T						RP5-906A24.2_ENST00000579256.1_RNA|CACNB1_ENST00000394310.3_Silent_p.E399E|CACNB1_ENST00000344140.5_Silent_p.E444E	p.E399E	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN			13	1404	-			399					A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Silent	SNP	ENST00000394303.3	37	c.1197G>A	CCDS42311.1																																																																																				0.607	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256945.3			16	27	0	0	0	0.00499	0	16	27					T	37333738	C	T	37333738	2	4	281	1	0	0	0	0	0	0	0	1	2552	796	28	2		2	CACNB1	17	37333738	Silent	SNP	C	TCGA-EM-A22I-01A-11D-A17V-08		37333738	43861472	10	6073											
ARFGEF2	10564	broad.mit.edu	37	chr20	47621731	47621731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagaaagattttctgaggcCctttgagcatattatgaaga	9	7	1	6			TCGA-EM-A22I-01A-11D-A17V-08	TCGA-EM-A22I-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0636a7b-490a-44e0-8512-062c989896ce	db5dcc71-4c5c-4843-9048-3c25cf68feb4	g.chr20:47621731C>T	ENST00000371917.4	+	26	3557	c.3557C>T	c.(3556-3558)cCc>cTc	p.P1186L		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1186					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TTTCTGAGGCCCTTTGAGCAT	0.448																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	ENST00000371917.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(3556-3558)cCc>cTc		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)							118	117	117					20																	47621731		2203	4300	6503	SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47621731C>T	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.3557C>T	20.37:g.47621731C>T	ENSP00000360985:p.Pro1186Leu						p.P1186L	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		26	3557	+			1186					Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.3557C>T	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	C	34	5.292290	0.95546	.	.	ENSG00000124198	ENST00000371917	T	0.63255	-0.03	5.95	5.95	0.96441	Domain of unknown function DUF1981, SEC7 associated (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85221	0.5647	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87562	0.2472	10	0.87932	D	0	.	20.3923	0.98948	0.0:1.0:0.0:0.0	.	1186	Q9Y6D5	BIG2_HUMAN	L	1186	ENSP00000360985:P1186L	ENSP00000360985:P1186L	P	+	2	0	ARFGEF2	47055138	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.805000	0.86005	2.831000	0.97527	0.609000	0.83330	CCC		0.448	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		12	91	0	0	0	0.013537	0	12	91					T	47621731	C	T	47621731	3	4	281	1	0	0	0	0	1	0	0	0	853	623	22	2	3659	2	ARFGEF2	20	47621731	Missense_Mutation	SNP	C	TCGA-EM-A22I-01A-11D-A17V-08		47621731	15403789	11	6074											
RBM11	54033	broad.mit.edu	37	chr21	15599326	15599326	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgaggctggacccagctcAtataaatggactcaccaaca	8	12	2	1			TCGA-EM-A22I-01A-11D-A17V-08	TCGA-EM-A22I-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0636a7b-490a-44e0-8512-062c989896ce	db5dcc71-4c5c-4843-9048-3c25cf68feb4	g.chr21:15599326A>G	ENST00000400577.3	+	5	567	c.558A>G	c.(556-558)tcA>tcG	p.S186S	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	186					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		GACCCAGCTCATATAAATGGA	0.453																																						ENST00000400577.3																			0				endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(556-558)tcA>tcG		RNA binding motif protein 11							213	207	209					21																	15599326		1942	4139	6081	SO:0001819	synonymous_variant	54033						nucleotide binding|RNA binding	g.chr21:15599326A>G	AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"RNA binding motif (RRM) containing"	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.558A>G	21.37:g.15599326A>G						RBM11_ENST00000468643.1_3'UTR	p.S186S	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN		Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)	5	567	+			186					Q6YNC2|Q8NBA1|Q8NFF6	Silent	SNP	ENST00000400577.3	37	c.558A>G	CCDS46635.1																																																																																				0.453	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157818.1	NM_144770		7	199	0	0	0	0.004482	0	7	199					G	15599326	A	G	15599326	2	3	281	1	0	0	0	0	0	0	0	1	13112	204	8	3		3	RBM11	21	15599326	Silent	SNP	A	TCGA-EM-A22I-01A-11D-A17V-08		15599326	32530569	12	6075											
ZXDB	158586	broad.mit.edu	37	chrX	57619097	57619097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctcctgcccagcagcccGggtgtctgatcgccccgcaa	11	19	1	1			TCGA-EM-A22I-01A-11D-A17V-08	TCGA-EM-A22I-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0636a7b-490a-44e0-8512-062c989896ce	db5dcc71-4c5c-4843-9048-3c25cf68feb4	g.chrX:57619097G>A	ENST00000374888.1	+	1	829	c.616G>A	c.(616-618)Ggg>Agg	p.G206R		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	206					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.G206R(2)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CCAGCAGCCCGGGTGTCTGAT	0.711																																						ENST00000374888.1																			2	Substitution - Missense(2)	p.G206R(2)	lung(1)|prostate(1)	NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						c.(616-618)Ggg>Agg		zinc finger, X-linked, duplicated B							12	14	13					X																	57619097		2186	4257	6443	SO:0001583	missense	158586				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chrX:57619097G>A	L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"Zinc fingers, C2H2-type"	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.616G>A	X.37:g.57619097G>A	ENSP00000364023:p.Gly206Arg						p.G206R	NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN			1	829	+			206					A8K151|Q9UBB3	Missense_Mutation	SNP	ENST00000374888.1	37	c.616G>A	CCDS35313.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.654782	0.00108	.	.	ENSG00000198455	ENST00000374888	T	0.11063	2.81	2.65	1.78	0.24846	.	0.160870	0.29602	N	0.011697	T	0.04452	0.0122	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41787	-0.9489	10	0.15952	T	0.53	.	4.3042	0.10938	0.3435:0.0:0.6565:0.0	.	206	P98169	ZXDB_HUMAN	R	206	ENSP00000364023:G206R	ENSP00000364023:G206R	G	+	1	0	ZXDB	57635822	0.000000	0.05858	0.002000	0.10522	0.045000	0.14185	-0.287000	0.08388	0.520000	0.28426	0.556000	0.70494	GGG		0.711	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	NM_007157		3	22	0	0	0	0.004672	0	3	22					A	57619097	G	A	57619097	3	1	281	1	0	0	0	0	1	0	0	0	18248	1116	39	1	618	1	ZXDB	23	57619097	Missense_Mutation	SNP	G	TCGA-EM-A22I-01A-11D-A17V-08		57619097	97651463	13	6076											
HCFC1	3054	broad.mit.edu	37	chrX	153228845	153228845	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccaggctaccactccagaGcctggccgtaattccaggat	9	15	0	1			TCGA-EM-A22I-01A-11D-A17V-08	TCGA-EM-A22I-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0636a7b-490a-44e0-8512-062c989896ce	db5dcc71-4c5c-4843-9048-3c25cf68feb4	g.chrX:153228845G>A	ENST00000310441.7	-	4	1509	c.543C>T	c.(541-543)ggC>ggT	p.G181G	HCFC1_ENST00000369984.4_Silent_p.G181G|HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000354233.3_Silent_p.G181G	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	181					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)					CCACTCCAGAGCCTGGCCGTA	0.527																																						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.(541-543)ggC>ggT		host cell factor C1 (VP16-accessory protein)							59	61	60					X																	153228845		1961	4137	6098	SO:0001819	synonymous_variant	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:153228845G>A		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.543C>T	X.37:g.153228845G>A						HCFC1_ENST00000354233.3_Silent_p.G181G|HCFC1_ENST00000369984.4_Silent_p.G181G	p.G181G	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			4	1509	-	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)		181					Q6P4G5	Silent	SNP	ENST00000310441.7	37	c.543C>T	CCDS44020.1																																																																																				0.527	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		24	44	0	0	0	0.00278	0	24	44					A	153228845	G	A	153228845	2	1	281	1	0	0	0	0	0	0	0	1	6991	958	34	2		2	HCFC1	23	153228845	Silent	SNP	G	TCGA-EM-A22I-01A-11D-A17V-08	95609748	153228845	2041715	14	6077											
PPM1J	333926	broad.mit.edu	37	chr1	113256123	113256123	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggatgggtcttacctggCctcggctaggctccctaggt	15	11	1	0			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr1:113256123C>T	ENST00000309276.6	-	2	612	c.437G>A	c.(436-438)gGc>gAc	p.G146D	RP11-426L16.10_ENST00000471038.2_5'Flank|RP11-426L16.10_ENST00000606505.1_5'Flank|PPM1J_ENST00000464951.1_5'UTR|PPM1J_ENST00000359994.4_5'Flank|RP11-426L16.9_ENST00000566195.1_RNA	NM_005167.5	NP_005158.5	Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	146	PP2C-like.				protein dephosphorylation (GO:0006470)		protein serine/threonine phosphatase activity (GO:0004722)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTTACCTGGCCTCGGCTAGG	0.562																																						ENST00000309276.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14						c.(436-438)gGc>gAc		protein phosphatase, Mg2+/Mn2+ dependent, 1J							209	173	185					1																	113256123		2203	4300	6503	SO:0001583	missense	333926							g.chr1:113256123C>T	AK093270	CCDS855.2	1p13.1	2012-04-17	2010-03-05		ENSG00000155367	ENSG00000155367	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	20785	protein-coding gene	gene with protein product	"protein phosphatase 2C zeta"	609957	"protein phosphatase 1J (PP2C domain containing)"			12633878	Standard	NM_005167		Approved	FLJ35951, MGC19531, DKFZp434P1514, PP2Czeta, PPP2CZ	uc001ect.1	Q5JR12	OTTHUMG00000012019	ENST00000309276.6:c.437G>A	1.37:g.113256123C>T	ENSP00000308926:p.Gly146Asp					PPM1J_ENST00000464951.1_5'UTR	p.G146D	NM_005167.5	NP_005158.5	Q5JR12	PPM1J_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	612	-	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	146			PP2C-like.		B3KSB7|Q6DKJ7|Q96EZ7|Q9UF84	Missense_Mutation	SNP	ENST00000309276.6	37	c.437G>A	CCDS855.2	.	.	.	.	.	.	.	.	.	.	C	8.063	0.768646	0.15983	.	.	ENSG00000155367	ENST00000309276	T	0.30182	1.54	5.13	2.97	0.34412	Protein phosphatase 2C-like (4);	0.904437	0.09727	N	0.763669	T	0.07234	0.0183	L	0.36672	1.1	0.21984	N	0.99943	B	0.02656	0.0	B	0.04013	0.001	T	0.35649	-0.9780	10	0.15952	T	0.53	-2.6614	4.2695	0.10780	0.0:0.5915:0.0:0.4085	.	146	Q5JR12	PPM1J_HUMAN	D	146	ENSP00000308926:G146D	ENSP00000308926:G146D	G	-	2	0	PPM1J	113057646	0.930000	0.31532	0.661000	0.29709	0.323000	0.28346	1.964000	0.40462	1.130000	0.42092	0.561000	0.74099	GGC		0.562	PPM1J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033251.1	NM_005167		5	59	0	0	0	8.12818e-05	0	5	59					T	113256123	C	T	113256123	3	4	282	1	0	0	0	0	1	0	0	0	12342	739	26	2	1116	2	PPM1J	1	113256123	Missense_Mutation	SNP	C	TCGA-EM-A22J-01A-11D-A17V-08		113256123	135994498	1	6078											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290	byFrequency	TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		neuroblastoma RAS viral (v-ras) oncogene homolog							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		60	88	0	0	0	0.000147903	0	60	88					C	115256529	T	C	115256529	3	2	282	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-EM-A22J-01A-11D-A17V-08	2000406	115256529	133994092	2	6079											
MTIF2	4528	broad.mit.edu	37	chr2	55470598	55470598	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatctctttcccttttctcTtttggctttaagggtatttg	7	8	2	0			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr2:55470598T>C	ENST00000263629.4	-	12	1833	c.1518A>G	c.(1516-1518)aaA>aaG	p.K506K	MTIF2_ENST00000394600.3_Silent_p.K506K|MTIF2_ENST00000403721.1_Silent_p.K506K	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	506					formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						CCCTTTTCTCTTTTGGCTTTA	0.313																																						ENST00000394600.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						c.(1516-1518)aaA>aaG		mitochondrial translational initiation factor 2							94	96	95					2																	55470598		2202	4300	6502	SO:0001819	synonymous_variant	4528				regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity	g.chr2:55470598T>C	L34600	CCDS1853.1	2p16.1	2008-02-05			ENSG00000085760	ENSG00000085760			7441	protein-coding gene	gene with protein product		603766				9925935, 7829522	Standard	XM_005264335		Approved	IF-2mt	uc002ryo.3	P46199	OTTHUMG00000129338	ENST00000263629.4:c.1518A>G	2.37:g.55470598T>C						MTIF2_ENST00000263629.4_Silent_p.K506K|MTIF2_ENST00000403721.1_Silent_p.K506K	p.K506K	NM_001005369.1	NP_001005369.1	P46199	IF2M_HUMAN			13	2254	-			506					D6W5D0	Silent	SNP	ENST00000263629.4	37	c.1518A>G	CCDS1853.1																																																																																				0.313	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251486.4	NM_002453		3	89	0	0	0	0.00024832	0	3	89					C	55470598	T	C	55470598	2	2	282	1	0	0	0	0	0	0	0	1	9934	1606	56	3		3	MTIF2	2	55470598	Silent	SNP	T	TCGA-EM-A22J-01A-11D-A17V-08		55470598	187728775	3	6080											
STK25	10494	broad.mit.edu	37	chr2	242439602	242439602	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggacctttgatgtctcggTggatcttgcgttcggagtgc	14	9	2	1			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr2:242439602T>C	ENST00000316586.4	-	5	762	c.413A>G	c.(412-414)cAc>cGc	p.H138R	STK25_ENST00000535007.1_Missense_Mutation_p.H44R|STK25_ENST00000543554.1_Missense_Mutation_p.H44R|STK25_ENST00000403346.3_Missense_Mutation_p.H138R|STK25_ENST00000401869.1_Missense_Mutation_p.H138R|STK25_ENST00000478403.1_5'Flank|STK25_ENST00000405585.1_Missense_Mutation_p.H61R|STK25_ENST00000405883.3_Missense_Mutation_p.H61R	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	138	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				establishment or maintenance of cell polarity (GO:0007163)|Golgi localization (GO:0051645)|positive regulation of axonogenesis (GO:0050772)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GATGTCTCGGTGGATCTTGCG	0.582																																					NSCLC(99;1100 1566 7679 28647 48345)	ENST00000316586.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						c.(412-414)cAc>cGc		serine/threonine kinase 25							121	111	115					2																	242439602		2203	4300	6503	SO:0001583	missense	10494				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr2:242439602T>C	D63780	CCDS2549.1, CCDS63199.1, CCDS63200.1	2q37.3	2010-06-25	2010-06-25		ENSG00000115694	ENSG00000115694			11404	protein-coding gene	gene with protein product		602255	"serine/threonine kinase 25 (Ste20, yeast homolog)"			8887545, 9160885, 15037601	Standard	NM_001271977		Approved	SOK1, YSK1	uc002wbp.4	O00506	OTTHUMG00000133408	ENST00000316586.4:c.413A>G	2.37:g.242439602T>C	ENSP00000325748:p.His138Arg					STK25_ENST00000401869.1_Missense_Mutation_p.H138R|STK25_ENST00000405883.3_Missense_Mutation_p.H61R|STK25_ENST00000543554.1_Missense_Mutation_p.H44R|STK25_ENST00000535007.1_Missense_Mutation_p.H44R|STK25_ENST00000405585.1_Missense_Mutation_p.H61R|STK25_ENST00000403346.3_Missense_Mutation_p.H138R	p.H138R	NM_001271977.1|NM_001271978.1	NP_001258906.1|NP_001258907.1	O00506	STK25_HUMAN		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)	5	762	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	138			Protein kinase.		A8K6Z3|A8K7D2|B7Z9K1|Q15522|Q5BJF1	Missense_Mutation	SNP	ENST00000316586.4	37	c.413A>G	CCDS2549.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.4|26.4	4.735697|4.735697	0.89482|0.89482	.|.	.|.	ENSG00000115694|ENSG00000115694	ENST00000316586;ENST00000403346;ENST00000401869;ENST00000405883;ENST00000545437;ENST00000405585;ENST00000543554;ENST00000535007;ENST00000450497;ENST00000424537;ENST00000442307;ENST00000413760;ENST00000429279;ENST00000436402;ENST00000440109;ENST00000435225|ENST00000423004	T;T;T;T;T;T;T;T;T;T;T;D;T;D;D|.	0.95307|.	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;0.48;0.48;0.48;0.48;-3.67;-1.32;-3.67;-3.67|.	5.07|5.07	5.07|5.07	0.68467|0.68467	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|.	0.85682|.	D|.	0.000000|.	D|D	0.91683|0.91683	0.7371|0.7371	H|H	0.99834|0.99834	4.825|4.825	0.80722|0.80722	D|D	1|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|D	0.95409|0.95409	0.8496|0.8496	10|5	0.87932|.	D|.	0|.	.|.	15.1502|15.1502	0.72692|0.72692	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	138;64;61;138|.	B4DZ52;B4DVS7;A8K6Z3;O00506|.	.;.;.;STK25_HUMAN|.	R|A	138;138;138;61;44;61;44;44;44;42;44;44;44;138;44;44|20	ENSP00000325748:H138R;ENSP00000384162:H138R;ENSP00000385687:H138R;ENSP00000384444:H61R;ENSP00000385541:H61R;ENSP00000444886:H44R;ENSP00000446008:H44R;ENSP00000399212:H44R;ENSP00000417020:H42R;ENSP00000403607:H44R;ENSP00000395104:H44R;ENSP00000404960:H44R;ENSP00000412617:H138R;ENSP00000403866:H44R;ENSP00000401114:H44R|.	ENSP00000325748:H138R|.	H|T	-|-	2|1	0|0	STK25|STK25	242088275|242088275	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.834000|7.834000	0.86773|0.86773	2.035000|2.035000	0.60131|0.60131	0.533000|0.533000	0.62120|0.62120	CAC|ACC		0.582	STK25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257265.4	NM_006374		5	57	0	0	0	1.23904e-05	0	5	57					C	242439602	T	C	242439602	3	2	282	1	0	0	0	0	1	0	0	0	15293	1696	59	3	899	3	STK25	2	242439602	Missense_Mutation	SNP	T	TCGA-EM-A22J-01A-11D-A17V-08	186969004	242439602	759771	4	6081											
CNTN3	5067	broad.mit.edu	37	chr3	74315640	74315640	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	caaccaacttactggttattCgtggaatcctgatctgttca	7	10	2	1			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr3:74315640C>G	ENST00000263665.6	-	21	3005	c.2978G>C	c.(2977-2979)cGa>cCa	p.R993P	CNTN3_ENST00000477856.1_5'UTR	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	993	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ACTGGTTATTCGTGGAATCCT	0.428																																						ENST00000263665.6																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(2977-2979)cGa>cCa		contactin 3 (plasmacytoma associated)							289	269	276					3																	74315640		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74315640C>G	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2978G>C	3.37:g.74315640C>G	ENSP00000263665:p.Arg993Pro					CNTN3_ENST00000477856.1_5'UTR	p.R993P	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	21	3005	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	993					B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.2978G>C	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480441	0.63849	.	.	ENSG00000113805	ENST00000263665	T	0.47528	0.84	5.42	5.42	0.78866	Fibronectin, type III (1);	0.095905	0.64402	D	0.000001	T	0.40040	0.1101	N	0.14661	0.345	0.47621	D	0.999474	P	0.35684	0.515	P	0.44860	0.462	T	0.37314	-0.9711	10	0.45353	T	0.12	.	13.1937	0.59726	0.0:0.9229:0.0:0.0771	.	993	Q9P232	CNTN3_HUMAN	P	993	ENSP00000263665:R993P	ENSP00000263665:R993P	R	-	2	0	CNTN3	74398330	0.667000	0.27484	1.000000	0.80357	0.993000	0.82548	0.823000	0.27366	2.534000	0.85438	0.655000	0.94253	CGA		0.428	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		3	73	0	0	0	6.4e-05	0	3	73					G	74315640	C	G	74315640	3	3	282	1	0	0	0	0	1	0	0	0	3642	884	31	4	116	4	CNTN3	3	74315640	Missense_Mutation	SNP	C	TCGA-EM-A22J-01A-11D-A17V-08		74315640	123706790	5	6082											
ADH4	127	broad.mit.edu	37	chr4	100047817	100047817	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggtatgggtcaccagtgcaTccagattgaatttcttattc	10	8	2	2			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr4:100047817T>A	ENST00000265512.7	-	8	1120	c.1046A>T	c.(1045-1047)gAt>gTt	p.D349V	RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000508393.1_Missense_Mutation_p.D368V|ADH4_ENST00000423445.1_Missense_Mutation_p.D368V|ADH4_ENST00000505590.1_Missense_Mutation_p.D368V	NM_000670.3	NP_000661.2	P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	349					alcohol catabolic process (GO:0046164)|alcohol metabolic process (GO:0006066)|cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|quinone metabolic process (GO:1901661)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|all-trans retinal binding (GO:0005503)|benzaldehyde dehydrogenase activity (GO:0019115)|ethanol binding (GO:0035276)|NAD binding (GO:0051287)|NADPH:quinone reductase activity (GO:0003960)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)		CACCAGTGCATCCAGATTGAA	0.373																																						ENST00000508393.1																			0				NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18						c.(1102-1104)gAt>gTt		alcohol dehydrogenase 4 (class II), pi polypeptide	NADH(DB00157)						138	134	135					4																	100047817		2203	4300	6503	SO:0001583	missense	127				alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding	g.chr4:100047817T>A	M15943	CCDS34032.1	4q22	2008-02-05				ENSG00000198099	1.1.1.1	"Alcohol dehydrogenases"	252	protein-coding gene	gene with protein product		103740					Standard	NM_000670		Approved	ADH-2	uc003hun.3	P08319		ENST00000265512.7:c.1046A>T	4.37:g.100047817T>A	ENSP00000265512:p.Asp349Val					ADH4_ENST00000265512.7_Missense_Mutation_p.D349V|ADH4_ENST00000423445.1_Missense_Mutation_p.D368V|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000505590.1_Missense_Mutation_p.D368V	p.D368V			P08319	ADH4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	9	1268	-			349					A8K470|B4DIE7|C9J4A9|Q8TCD7	Missense_Mutation	SNP	ENST00000265512.7	37	c.1103A>T	CCDS34032.1	.	.	.	.	.	.	.	.	.	.	T	18.40	3.615175	0.66672	.	.	ENSG00000198099	ENST00000508393;ENST00000265512;ENST00000423445;ENST00000505590	T;T;T;T	0.11604	2.76;2.76;2.76;2.76	4.75	3.58	0.41010	GroES-like (1);	0.000000	0.64402	U	0.000004	T	0.36110	0.0955	H	0.95004	3.61	0.80722	D	1	P;D	0.53619	0.898;0.961	P;P	0.57371	0.577;0.819	T	0.43261	-0.9402	10	0.87932	D	0	-5.1278	10.2182	0.43182	0.0:0.0781:0.0:0.9219	.	368;349	P08319-2;P08319	.;ADH4_HUMAN	V	368;349;368;368	ENSP00000424630:D368V;ENSP00000265512:D349V;ENSP00000397939:D368V;ENSP00000425416:D368V	ENSP00000265512:D349V	D	-	2	0	ADH4	100266840	1.000000	0.71417	0.678000	0.29963	0.897000	0.52465	5.703000	0.68340	0.859000	0.35456	0.533000	0.62120	GAT		0.373	ADH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364220.2	NM_000670		20	56	0	0	0	0.000132079	0	20	56					A	100047817	T	A	100047817	3	1	282	1	0	0	0	0	1	0	0	0	310	1435	50	5	104	5	ADH4	4	100047817	Missense_Mutation	SNP	T	TCGA-EM-A22J-01A-11D-A17V-08		100047817	91106459	6	6083											
FBN2	2201	broad.mit.edu	37	chr5	127638774	127638774	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catggatgccgctcgcactcAtcaacatctataaagaaata	6	11	3	1			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr5:127638774A>G	ENST00000508053.1	-	52	6782	c.5808T>C	c.(5806-5808)gaT>gaC	p.D1936D	FBN2_ENST00000262464.4_Silent_p.D1936D			P35556	FBN2_HUMAN	fibrillin 2	1936	EGF-like 32; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCTCGCACTCATCAACATCTA	0.338																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(5806-5808)gaT>gaC		fibrillin 2							94	96	96					5																	127638774		2203	4300	6503	SO:0001819	synonymous_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127638774A>G	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.5808T>C	5.37:g.127638774A>G						FBN2_ENST00000262464.4_Silent_p.D1936D	p.D1936D			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	52	6782	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1936			EGF-like 32; calcium-binding.		B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.5808T>C	CCDS34222.1																																																																																				0.338	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		27	40	0	0	0	0.000117367	0	27	40					G	127638774	A	G	127638774	2	3	282	1	0	0	0	0	0	0	0	1	5703	214	8	3		3	FBN2	5	127638774	Silent	SNP	A	TCGA-EM-A22J-01A-11D-A17V-08		127638774	53276486	7	6084											
PCDHB5	26167	broad.mit.edu	37	chr5	140516258	140516258	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggacagagagagccaagcCgagtacaacatcaccatcac	9	13	2	2			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr5:140516258C>T	ENST00000231134.5	+	1	1459	c.1242C>T	c.(1240-1242)gcC>gcT	p.A414A		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	414	Cadherin 4. {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(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAGCCAAGCCGAGTACAACA	0.498																																						ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(1240-1242)gcC>gcT									132	118	122					5																	140516258		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516258C>T	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"Cadherins / Protocadherins : Clustered"	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1242C>T	5.37:g.140516258C>T							p.A414A	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1459	+			414			Cadherin 4.		Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	c.1242C>T	CCDS4247.1																																																																																				0.498	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		42	72	0	0	0	0.000374591	0	42	72					T	140516258	C	T	140516258	2	4	282	1	0	0	0	0	0	0	0	1	11545	639	23	1		1	PCDHB5	5	140516258	Silent	SNP	C	TCGA-EM-A22J-01A-11D-A17V-08	12877484	140516258	40399002	8	6085											
CLDN15	24146	broad.mit.edu	37	chr7	100880845	100880845	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccatgaagaagccaaaggtTtccacagccatcgacatggt	10	11	0	2			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr7:100880845T>C	ENST00000401528.1	-	2	1143	c.18A>G	c.(16-18)gaA>gaG	p.E6E	CLDN15_ENST00000433422.1_5'UTR|FIS1_ENST00000482199.1_5'Flank|CLDN15_ENST00000308344.5_Silent_p.E6E	NM_001185080.1	NP_001172009.1	P56746	CLD15_HUMAN	claudin 15	6					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)					AGCCAAAGGTTTCCACAGCCA	0.622																																						ENST00000401528.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10						c.(16-18)gaA>gaG		claudin 15							101	80	87					7																	100880845		2203	4300	6503	SO:0001819	synonymous_variant	24146				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr7:100880845T>C	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.18A>G	7.37:g.100880845T>C						CLDN15_ENST00000433422.1_5'UTR|CLDN15_ENST00000308344.5_Silent_p.E6E	p.E6E	NM_001185080.1	NP_001172009.1	P56746	CLD15_HUMAN			2	1143	-	Lung NSC(181;0.168)|all_lung(186;0.215)		6					B3KPB5	Silent	SNP	ENST00000401528.1	37	c.18A>G	CCDS5717.1																																																																																				0.622	CLDN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318698.1	NM_014343		4	38	0	0	0	0.00024832	0	4	38					C	100880845	T	C	100880845	2	2	282	1	0	0	0	0	0	0	0	1	3476	1838	64	3		3	CLDN15	7	100880845	Silent	SNP	T	TCGA-EM-A22J-01A-11D-A17V-08		100880845	58257818	9	6086											
SUSD1	64420	broad.mit.edu	37	chr9	114886546	114886546	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaatctgtacctgtgcatgTtaaagtactttctctccagg	8	9	2	1			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr9:114886546T>C	ENST00000374270.3	-	6	1049	c.877A>G	c.(877-879)Aca>Gca	p.T293A	SUSD1_ENST00000482851.1_5'Flank|SUSD1_ENST00000374263.3_Missense_Mutation_p.T293A|SUSD1_ENST00000374264.2_Missense_Mutation_p.T293A	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	293	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CCTGTGCATGTTAAAGTACTT	0.507																																						ENST00000374270.3																		SUSD1/ROD1(2)	0				central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(877-879)Aca>Gca		sushi domain containing 1							141	147	145					9																	114886546		2203	4300	6503	SO:0001583	missense	64420					integral to membrane	calcium ion binding	g.chr9:114886546T>C	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.877A>G	9.37:g.114886546T>C	ENSP00000363388:p.Thr293Ala					SUSD1_ENST00000374263.3_Missense_Mutation_p.T293A|SUSD1_ENST00000374264.2_Missense_Mutation_p.T293A	p.T293A	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN			6	1049	-			293			Sushi 2.		A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	ENST00000374270.3	37	c.877A>G	CCDS6783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.422|9.422	1.083315|1.083315	0.20309|0.20309	.|.	.|.	ENSG00000106868|ENSG00000106868	ENST00000355396|ENST00000374270;ENST00000374263;ENST00000374264	.|T;T;T	.|0.65916	.|-0.18;-0.18;-0.18	5.96|5.96	-2.34|-2.34	0.06704|0.06704	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.675007	.|0.13156	.|N	.|0.409439	T|T	0.37100|0.37100	0.0991|0.0991	L|L	0.37630|0.37630	1.12|1.12	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.06786	.|0.001;0.001;0.001	.|B;B;B	.|0.11329	.|0.003;0.004;0.006	T|T	0.22173|0.22173	-1.0224|-1.0224	5|10	.|0.07482	.|T	.|0.82	-4.5896|-4.5896	0.7024|0.7024	0.00910|0.00910	0.1785:0.2541:0.1426:0.4248|0.1785:0.2541:0.1426:0.4248	.|.	.|293;293;293	.|F8WAQ1;Q6UWL2-2;Q6UWL2	.|.;.;SUSD1_HUMAN	S|A	276|293	.|ENSP00000363388:T293A;ENSP00000363381:T293A;ENSP00000363382:T293A	.|ENSP00000363381:T293A	N|T	-|-	2|1	0|0	SUSD1|SUSD1	113926367|113926367	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.990000|0.990000	0.78478|0.78478	-0.137000|-0.137000	0.10389|0.10389	-0.073000|-0.073000	0.12842|0.12842	-0.256000|-0.256000	0.11100|0.11100	AAC|ACA		0.507	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486		4	147	0	0	0	0.00024832	0	4	147					C	114886546	T	C	114886546	3	2	282	1	0	0	0	0	1	0	0	0	15404	1725	60	3	1414	3	SUSD1	9	114886546	Missense_Mutation	SNP	T	TCGA-EM-A22J-01A-11D-A17V-08		114886546	26326885	10	6087											
LDLRAD3	143458	broad.mit.edu	37	chr11	36248871	36248871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accacccccaccactgcaacGtcacctacaacgtcaataat	3	18	2	0	rs371720202		TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr11:36248871G>A	ENST00000315571.5	+	5	712	c.691G>A	c.(691-693)Gtc>Atc	p.V231I	LDLRAD3_ENST00000528989.1_Missense_Mutation_p.V182I|LDLRAD3_ENST00000524419.1_Missense_Mutation_p.V221I|LDLRAD3_ENST00000529759.1_3'UTR	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	231					receptor-mediated endocytosis (GO:0006898)|regulation of protein processing (GO:0070613)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CCACTGCAACGTCACCTACAA	0.632																																						ENST00000315571.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28						c.(691-693)Gtc>Atc		low density lipoprotein receptor class A domain containing 3		G	ILE/VAL	0,4404		0,0,2202	74	66	69		691	5.1	1.0	11		69	1,8595	1.2+/-3.3	0,1,4297	no	missense	LDLRAD3	NM_174902.2	29	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	231/346	36248871	1,12999	2202	4298	6500	SO:0001583	missense	143458					integral to membrane	receptor activity	g.chr11:36248871G>A	AK075546	CCDS31462.1	11p13	2014-06-05			ENSG00000179241	ENSG00000179241			27046	protein-coding gene	gene with protein product						21795536	Standard	NM_174902		Approved	LRAD3	uc001mwk.1	Q86YD5	OTTHUMG00000166313	ENST00000315571.5:c.691G>A	11.37:g.36248871G>A	ENSP00000318607:p.Val231Ile					LDLRAD3_ENST00000528989.1_Missense_Mutation_p.V182I|LDLRAD3_ENST00000524419.1_Missense_Mutation_p.V221I|LDLRAD3_ENST00000529759.1_3'UTR	p.V231I	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN			5	712	+	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)	231					B7Z1U3|B9EG81|Q8NBJ0	Missense_Mutation	SNP	ENST00000315571.5	37	c.691G>A	CCDS31462.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569277	0.65765	0.0	1.16E-4	ENSG00000179241	ENST00000528989;ENST00000524419;ENST00000315571	D;D;D	0.94576	-3.46;-3.39;-3.21	5.07	5.07	0.68467	.	0.169547	0.40469	N	0.001100	D	0.92374	0.7580	L	0.32530	0.975	0.35106	D	0.76572	D;P;P	0.58268	0.982;0.83;0.83	P;B;B	0.47864	0.559;0.124;0.124	D	0.93002	0.6424	10	0.23302	T	0.38	.	18.4625	0.90745	0.0:0.0:1.0:0.0	.	221;182;231	E9PR86;B7Z1U3;Q86YD5	.;.;LRAD3_HUMAN	I	182;221;231	ENSP00000433954:V182I;ENSP00000434313:V221I;ENSP00000318607:V231I	ENSP00000318607:V231I	V	+	1	0	LDLRAD3	36205447	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.779000	0.75057	2.359000	0.80004	0.655000	0.94253	GTC		0.632	LDLRAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389085.1	NM_174902		27	56	0	0	0	0.000409698	0	27	56					A	36248871	G	A	36248871	3	1	282	1	0	0	0	0	1	0	0	0	8707	1145	40	1	709	1	LDLRAD3	11	36248871	Missense_Mutation	SNP	G	TCGA-EM-A22J-01A-11D-A17V-08		36248871	98757645	11	6088											
PHC1	1911	broad.mit.edu	37	chr12	9092053	9092053	+	Nonstop_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaatgtcctcaaggagaccTaaggtggccctcttgcacaa	9	11	2	1			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr12:9092053T>C	ENST00000543824.1	+	16	3345	c.3013T>C	c.(3013-3015)Taa>Caa	p.*1005Q	PHC1_ENST00000536844.1_Nonstop_Mutation_p.*611Q|PHC1_ENST00000433083.2_Nonstop_Mutation_p.*960Q|PHC1_ENST00000544916.1_Nonstop_Mutation_p.*1005Q			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	0					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						CAAGGAGACCTAAGGTGGCCC	0.478																																						ENST00000433083.2																			0				breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(2878-2880)Taa>Caa		polyhomeotic homolog 1 (Drosophila)							9	8	9					12																	9092053		2139	4231	6370	SO:0001578	stop_lost	1911				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr12:9092053T>C	U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"Sterile alpha motif (SAM) domain containing"	3182	protein-coding gene	gene with protein product		602978	"early development regulator 1 (homolog of polyhomeotic 1)", "polyhomeotic-like 1 (Drosophila)"	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.3013T>C	12.37:g.9092053T>C	ENSP00000440674:p.*1005Glnext*62					PHC1_ENST00000544916.1_Nonstop_Mutation_p.*1005Q|PHC1_ENST00000536844.1_Nonstop_Mutation_p.*611Q|PHC1_ENST00000543824.1_Nonstop_Mutation_p.*1005Q	p.*960Q			P78364	PHC1_HUMAN			14	3023	+			0			SAM.		D3DUV4|Q8WVM3|Q9BU63	Nonstop_Mutation	SNP	ENST00000543824.1	37	c.2878T>C	CCDS8597.1	.	.	.	.	.	.	.	.	.	.	T	14.88	2.667124	0.47677	.	.	ENSG00000111752	ENST00000543824;ENST00000251757;ENST00000433083;ENST00000536844	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4414	0.75184	0.0:0.0:0.0:1.0	.	.	.	.	Q	1005;1005;960;611	.	.	X	+	1	0	PHC1	8983320	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.026000	0.49689	2.127000	0.65507	0.528000	0.53228	TAA		0.478	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	NM_004426		2	11	0	0	0	6.4e-05	0	2	11					C	9092053	T	C	9092053	4	2	282	1	0	0	0	0	0	0	0	0	11816	1535	53	3	3067	3	PHC1	12	9092053	Nonstop_Mutation	SNP	T	TCGA-EM-A22J-01A-11D-A17V-08		9092053	124759842	12	6089											
BCAT1	586	broad.mit.edu	37	chr12	24985718	24985719	+	Frame_Shift_Ins	INS	-	-	TC													ggctgtaccagagccaaacaINStctctctcactctgttcccc							TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr12:24985718_24985719insTC	ENST00000261192.7	-	9	1508_1509	c.982_983insGA	c.(982-984)atgfs	p.M328fs	RP11-625L16.3_ENST00000545410.1_RNA|BCAT1_ENST00000544418.1_5'Flank|BCAT1_ENST00000539780.1_Frame_Shift_Ins_p.M291fs|BCAT1_ENST00000539282.1_Frame_Shift_Ins_p.M340fs|BCAT1_ENST00000342945.5_Frame_Shift_Ins_p.M267fs|BCAT1_ENST00000538118.1_Frame_Shift_Ins_p.M327fs	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	328					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cell proliferation (GO:0008283)|cellular nitrogen compound metabolic process (GO:0034641)|G1/S transition of mitotic cell cycle (GO:0000082)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)	AGAGCCAAACATCTCTCTCACT	0.431																																						ENST00000261192.7																			0				breast(1)|large_intestine(1)|lung(3)|prostate(2)	7						c.(982-984)gttfs		branched chain amino-acid transaminase 1, cytosolic	Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)																																			SO:0001589	frameshift_variant	586				branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	g.chr12:24985718_24985719insTC		CCDS44845.1, CCDS53760.1, CCDS53761.1, CCDS53762.1, CCDS53763.1	12p12.1	2012-10-02	2010-05-07		ENSG00000060982	ENSG00000060982	2.6.1.42		976	protein-coding gene	gene with protein product		113520	"branched chain aminotransferase 1, cytosolic"	BCT1		9165094	Standard	NM_005504		Approved		uc010six.2	P54687	OTTHUMG00000169053	ENST00000261192.7:c.981_982dupGA	12.37:g.24985725_24985726dupTC	ENSP00000261192:p.Met328fs					BCAT1_ENST00000539780.1_Frame_Shift_Ins_p.V291fs|BCAT1_ENST00000538118.1_Frame_Shift_Ins_p.V327fs|BCAT1_ENST00000539282.1_Frame_Shift_Ins_p.V340fs|RP11-625L16.3_ENST00000545410.1_RNA|BCAT1_ENST00000342945.5_Frame_Shift_Ins_p.V267fs	p.V328fs	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN			9	1508_1509	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)		328					B3KY27|B7Z2M5|B7Z5L0|F5H5E4|Q68DQ7|Q96MY9	Frame_Shift_Ins	INS	ENST00000261192.7	37	c.982_983insGA	CCDS44845.1																																																																																				0.431	BCAT1-001	KNOWN	upstream_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402080.1	NM_005504		9	7						9	7	---	---	---	---	TC	24985719	-	TC	24985718	7	5	282	1	0	1	1	0	0	0	0	0	1354	217	8	0	189	0	BCAT1	12	24985718	Frame_Shift_Ins	INS	-	TCGA-EM-A22J-01A-11D-A17V-08	15893665	24985718	108866177	13	6090											
FNDC3A	22862	broad.mit.edu	37	chr13	49772502	49772502	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttatgtggcacttagaataCgaattcaagccttgaatagc	8	8	1	2			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr13:49772502C>T	ENST00000492622.2	+	23	3084	c.2779C>T	c.(2779-2781)Cga>Tga	p.R927*	FNDC3A_ENST00000398316.3_Nonsense_Mutation_p.R871*|FNDC3A_ENST00000541916.1_Nonsense_Mutation_p.R927*	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	927	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		ACTTAGAATACGAATTCAAGC	0.368																																						ENST00000492622.2																			0				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41						c.(2779-2781)Cga>Tga		fibronectin type III domain containing 3A							88	86	87					13																	49772502		2203	4300	6503	SO:0001587	stop_gained	22862					Golgi membrane|integral to membrane		g.chr13:49772502C>T	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"Fibronectin type III domain containing"	20296	protein-coding gene	gene with protein product		615794	"fibronectin type III domain containing 3"	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.2779C>T	13.37:g.49772502C>T	ENSP00000417257:p.Arg927*					FNDC3A_ENST00000541916.1_Nonsense_Mutation_p.R927*|FNDC3A_ENST00000398316.3_Nonsense_Mutation_p.R871*	p.R927*	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	23	3084	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	927			Fibronectin type-III 7.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Nonsense_Mutation	SNP	ENST00000492622.2	37	c.2779C>T	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	C	41	9.136227	0.99077	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	.	.	.	6.06	5.22	0.72569	.	0.000000	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.4588	15.9153	0.79512	0.1361:0.8639:0.0:0.0	.	.	.	.	X	927;863;927;871	.	ENSP00000338579:R863X	R	+	1	2	FNDC3A	48670503	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.613000	0.54152	1.557000	0.49525	0.650000	0.86243	CGA		0.368	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		6	64	0	0	0	3.59834e-05	0	6	64					T	49772502	C	T	49772502	4	4	282	1	0	0	0	0	0	1	0	0	5969	528	19	1	2876	1	FNDC3A	13	49772502	Nonsense_Mutation	SNP	C	TCGA-EM-A22J-01A-11D-A17V-08		49772502	65397376	14	6091											
ATP11A	23250	broad.mit.edu	37	chr13	113487317	113487317	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcctcgcccgacgaggtggcGctggtcgaaggtgtccagag	16	12	0	1			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr13:113487317G>C	ENST00000487903.1	+	14	1627	c.1539G>C	c.(1537-1539)gcG>gcC	p.A513A	ATP11A_ENST00000375630.2_Silent_p.A513A|ATP11A_ENST00000283558.8_Silent_p.A513A|ATP11A_ENST00000375645.3_Silent_p.A513A			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	513					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ACGAGGTGGCGCTGGTCGAAG	0.627																																						ENST00000487903.1																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51						c.(1537-1539)gcG>gcC		ATPase, class VI, type 11A							116	125	122					13																	113487317		2203	4300	6503	SO:0001819	synonymous_variant	23250				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.chr13:113487317G>C	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"ATPases / P-type"	13552	protein-coding gene	gene with protein product	"potential phospholipid-transporting ATPase IH", "phospholipid-translocating ATPase"	605868	"ATPase, Class VI, type 11A"			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.1539G>C	13.37:g.113487317G>C						ATP11A_ENST00000375645.3_Silent_p.A513A|ATP11A_ENST00000283558.8_Silent_p.A513A|ATP11A_ENST00000375630.2_Silent_p.A513A	p.A513A			P98196	AT11A_HUMAN			14	1627	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	513					Q5VXT2	Silent	SNP	ENST00000487903.1	37	c.1539G>C	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.330365	0.24167	.	.	ENSG00000068650	ENST00000418678	.	.	.	5.71	-9.43	0.00607	.	.	.	.	.	T	0.31420	0.0796	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38845	-0.9642	4	.	.	.	.	0.7248	0.00947	0.2505:0.1769:0.3208:0.2518	.	.	.	.	P	488	.	.	R	+	2	0	ATP11A	112535318	0.000000	0.05858	0.037000	0.18230	0.958000	0.62258	-1.949000	0.01532	-1.991000	0.00976	0.561000	0.74099	CGC		0.627	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		18	180	0	0	0	7.07596e-05	0	18	180					C	113487317	G	C	113487317	2	2	282	1	0	0	0	0	0	0	0	1	1119	1074	38	4		4	ATP11A	13	113487317	Silent	SNP	G	TCGA-EM-A22J-01A-11D-A17V-08	63714815	113487317	1682561	15	6092											
IL16	3603	broad.mit.edu	37	chr15	81517814	81517814	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catctccaggtccctgatgcTctgtaatgctaagaccagtg	9	12	2	2			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr15:81517814T>C	ENST00000302987.4	+	1	74	c.74T>C	c.(73-75)cTc>cCc	p.L25P	IL16_ENST00000394660.2_Missense_Mutation_p.L25P			Q14005	IL16_HUMAN	interleukin 16	25					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TCCCTGATGCTCTGTAATGCT	0.498																																						ENST00000394660.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(73-75)cTc>cCc		interleukin 16							81	82	82					15																	81517814		2009	4187	6196	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81517814T>C	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"Interleukins and interleukin receptors"	5980	protein-coding gene	gene with protein product	"prointerleukin 16", "lymphocyte chemoattractant factor"	603035	"interleukin 16 (lymphocyte chemoattractant factor)"			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.74T>C	15.37:g.81517814T>C	ENSP00000302935:p.Leu25Pro					IL16_ENST00000302987.4_Missense_Mutation_p.L25P	p.L25P	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			2	434	+			25					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.74T>C	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	T	13.45	2.241631	0.39598	.	.	ENSG00000172349	ENST00000394655;ENST00000360547;ENST00000394660;ENST00000302987	T;T	0.21361	2.02;2.01	4.18	4.18	0.49190	.	0.000000	0.34777	N	0.003698	T	0.44829	0.1312	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.48043	-0.9069	10	0.87932	D	0	.	13.4093	0.60933	0.0:0.0:0.0:1.0	.	25;25	Q14005;Q14005-2	IL16_HUMAN;.	P	25;67;25;25	ENSP00000378155:L25P;ENSP00000302935:L25P	ENSP00000302935:L25P	L	+	2	0	IL16	79304869	1.000000	0.71417	1.000000	0.80357	0.134000	0.20937	5.190000	0.65104	1.751000	0.51876	0.460000	0.39030	CTC		0.498	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		15	25	0	0	0	0.000308642	0	15	25					C	81517814	T	C	81517814	3	2	282	1	0	0	0	0	1	0	0	0	7633	1551	54	3	76	3	IL16	15	81517814	Missense_Mutation	SNP	T	TCGA-EM-A22J-01A-11D-A17V-08		81517814	21013578	16	6093											
SLC35B1	10237	broad.mit.edu	37	chr17	47780295	47780295	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggatcacagaggccaaaaTtgtgaagaactttcgagttg	12	6	1	3	rs80203972	byFrequency	TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr17:47780295T>C	ENST00000240333.6	-	8	962	c.841A>G	c.(841-843)Att>Gtt	p.I281V	SLC35B1_ENST00000415270.2_Missense_Mutation_p.I318V			P78383	S35B1_HUMAN	solute carrier family 35, member B1	281					transport (GO:0006810)|UDP-galactose transmembrane transport (GO:0072334)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	UDP-galactose transmembrane transporter activity (GO:0005459)			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						GAGGCCAAAATTGTGAAGAAC	0.493													.|||	3	0.000599042	0.0023	0	5008	,	,		16249	0		0	False		,,,				2504	0					ENST00000240333.6																			0				endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						c.(841-843)Att>Gtt		solute carrier family 35, member B1		T	VAL/ILE	3,4403	6.2+/-15.9	0,3,2200	143	136	138		841	5.2	1.0	17	dbSNP_131	138	0,8600		0,0,4300	yes	missense	SLC35B1	NM_005827.1	29	0,3,6500	CC,CT,TT		0.0,0.0681,0.0231	benign	281/323	47780295	3,13003	2203	4300	6503	SO:0001583	missense	10237					endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity	g.chr17:47780295T>C	D16978	CCDS11552.1, CCDS11552.2	17q21.32	2013-05-22			ENSG00000121073	ENSG00000121073		"Solute carriers"	20798	protein-coding gene	gene with protein product		610790				9010752	Standard	NM_005827		Approved	UGTREL1	uc002iph.1	P78383	OTTHUMG00000161638	ENST00000240333.6:c.841A>G	17.37:g.47780295T>C	ENSP00000240333:p.Ile281Val					SLC35B1_ENST00000415270.2_Missense_Mutation_p.I318V	p.I281V			P78383	S35B1_HUMAN			8	962	-			281					B4DEC4|J3KQV4|Q96EW7	Missense_Mutation	SNP	ENST00000240333.6	37	c.841A>G	CCDS11552.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	12.19	1.862744	0.32884	6.81E-4	0.0	ENSG00000121073	ENST00000240333;ENST00000415270;ENST00000504260;ENST00000502406;ENST00000503334	T;T;T	0.35048	1.33;1.33;1.33	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.30198	0.0757	N	0.25286	0.73	0.80722	D	1	B;B	0.22146	0.065;0.065	B;B	0.34180	0.177;0.139	T	0.09751	-1.0660	10	0.23891	T	0.37	2.4688	14.8245	0.70101	0.0:0.0:0.0:1.0	.	214;281	D3DTX1;P78383	.;S35B1_HUMAN	V	281;318;157;157;214	ENSP00000240333:I281V;ENSP00000409548:I318V;ENSP00000423323:I214V	ENSP00000240333:I281V	I	-	1	0	SLC35B1	45135294	1.000000	0.71417	0.978000	0.43139	0.962000	0.63368	7.645000	0.83430	2.153000	0.67306	0.533000	0.62120	ATT		0.493	SLC35B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365564.2	NM_005827		17	68	0	0	0	9.7654e-05	0	17	68					C	47780295	T	C	47780295	3	2	282	1	0	0	0	0	1	0	0	0	14575	1493	52	3	135	3	SLC35B1	17	47780295	Missense_Mutation	SNP	T	TCGA-EM-A22J-01A-11D-A17V-08		47780295	33414915	17	6094											
KIAA0892	23383	broad.mit.edu	37	chr19	19446536	19446536	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctttttcagtggttgataTcacagcaagtatcctttccg	7	9	3	1			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr19:19446536T>C	ENST00000392313.6	+	2	465	c.286T>C	c.(286-288)Tca>Cca	p.S96P	MAU2_ENST00000262815.8_Intron|MAU2_ENST00000586189.3_3'UTR	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	96	Sufficient for interaction with NIPBL.				maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						GTGGTTGATATCACAGCAAGT	0.438																																						ENST00000392313.5																			0				NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						c.(286-288)Tca>Cca		MAU2 sister chromatid cohesion factor							155	159	158					19																	19446536		1892	4114	6006	SO:0001583	missense	23383				cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding	g.chr19:19446536T>C	AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"sister chromatid cohesion 4"	614560	"KIAA0892", "MAU2 chromatid cohesion factor homolog (C. elegans)"	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.286T>C	19.37:g.19446536T>C	ENSP00000376127:p.Ser96Pro					MAU2_ENST00000262815.8_Intron	p.S96P	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN			2	332	+			96			Sufficient for interaction with NIPBL.		Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Missense_Mutation	SNP	ENST00000392313.6	37	c.286T>C	CCDS32969.2	.	.	.	.	.	.	.	.	.	.	T	16.93	3.257411	0.59321	.	.	ENSG00000129933	ENST00000392313	T	0.76060	-0.99	5.48	5.48	0.80851	Tetratricopeptide-like helical (1);	0.430942	0.23485	N	0.047663	T	0.67599	0.2910	L	0.41027	1.25	0.80722	D	1	B	0.24043	0.096	B	0.28553	0.091	T	0.63193	-0.6692	10	0.28530	T	0.3	.	14.3953	0.67007	0.0:0.0:0.0:1.0	.	96	Q9Y6X3	SCC4_HUMAN	P	96	ENSP00000376127:S96P	ENSP00000376127:S96P	S	+	1	0	MAU2	19307536	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.992000	0.76238	2.090000	0.63153	0.533000	0.62120	TCA		0.438	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316748.6	NM_015329		24	68	0	0	0	0.000117367	0	24	68					C	19446536	T	C	19446536	3	2	282	1	0	0	0	0	1	0	0	0	8196	1435	50	3	292	3	KIAA0892	19	19446536	Missense_Mutation	SNP	T	TCGA-EM-A22J-01A-11D-A17V-08		19446536	39682447	18	6095											
LILRA2	11027	broad.mit.edu	37	chr19	55085362	55085362	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccatgacccccatcctcaCggtcctgatctgtctcggtg	9	17	3	2	rs145704089	byFrequency	TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr19:55085362C>T	ENST00000251377.3	+	2	150	c.17C>T	c.(16-18)aCg>aTg	p.T6M	LILRA2_ENST00000251376.3_Missense_Mutation_p.T6M|LILRA2_ENST00000495786.1_Intron|LILRB1_ENST00000418536.2_Missense_Mutation_p.T6M|LILRB1_ENST00000448689.1_Missense_Mutation_p.T6M|LILRA2_ENST00000391737.1_Missense_Mutation_p.T6M|LILRA2_ENST00000391738.3_Missense_Mutation_p.T6M|LILRB1_ENST00000396321.2_Missense_Mutation_p.T6M			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	6					defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCCATCCTCACGGTCCTGATC	0.602													c|||	2	0.000399361	0	0	5008	,	,		18820	0.001		0.001	False		,,,				2504	0					ENST00000396321.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(16-18)aCg>aTg		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1		C	MET/THR,MET/THR	3,4403	6.2+/-15.9	0,3,2200	139	116	124		17,17	0.1	0.0	19	dbSNP_134	124	6,8594	5.0+/-18.6	0,6,4294	no	missense,missense	LILRA2	NM_001130917.1,NM_006866.2	81,81	0,9,6494	TT,TC,CC		0.0698,0.0681,0.0692	,	6/484,6/467	55085362	9,12997	2203	4300	6503	SO:0001583	missense	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55085362C>T	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.17C>T	19.37:g.55085362C>T	ENSP00000251377:p.Thr6Met	HNSCC(37;0.09)				LILRB1_ENST00000418536.2_Missense_Mutation_p.T6M|LILRA2_ENST00000495786.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.T6M|LILRA2_ENST00000251377.3_Missense_Mutation_p.T6M|LILRB1_ENST00000448689.1_Missense_Mutation_p.T6M|LILRA2_ENST00000391738.3_Missense_Mutation_p.T6M|LILRA2_ENST00000251376.3_Missense_Mutation_p.T6M	p.T6M			Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	1	17	+			6					O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.17C>T	CCDS46179.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	4.448	0.082908	0.08533	6.81E-4	6.98E-4	ENSG00000239998;ENSG00000239998;ENSG00000239998;ENSG00000239998;ENSG00000239998;ENSG00000104972;ENSG00000104972;ENSG00000104972	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737;ENST00000396321;ENST00000418536;ENST00000448689	T;T;T;T;T;T;T;T	0.00524	6.99;6.88;6.88;6.82;6.85;6.97;6.97;6.84	2.69	0.13	0.14746	.	1.627630	0.03783	N	0.261658	T	0.00524	0.0017	L	0.47016	1.485	0.09310	N	1	B;B;B;B;B	0.26195	0.144;0.057;0.072;0.036;0.029	B;B;B;B;B	0.31191	0.125;0.04;0.011;0.011;0.024	T	0.47302	-0.9128	10	0.28530	T	0.3	.	5.0209	0.14361	0.0:0.6733:0.0:0.3267	.	6;6;6;6;6	Q99702;E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;.;LIRA2_HUMAN;.	M	6	ENSP00000388131:T6M;ENSP00000251377:T6M;ENSP00000375618:T6M;ENSP00000251376:T6M;ENSP00000375617:T6M;ENSP00000379614:T6M;ENSP00000391514:T6M;ENSP00000409968:T6M	ENSP00000251376:T6M	T	+	2	0	LILRB1;LILRA2	59777174	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-3.303000	0.00519	0.003000	0.14656	0.508000	0.49915	ACG		0.602	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			28	83	0	0	0	0.000147802	0	28	83					T	55085362	C	T	55085362	3	4	282	1	0	0	0	0	1	0	0	0	8785	536	19	1	19	1	LILRA2	19	55085362	Missense_Mutation	SNP	C	TCGA-EM-A22J-01A-11D-A17V-08	35638826	55085362	4043621	19	6096											
NLRP4	147945	broad.mit.edu	37	chr19	56373368	56373368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttttgcagaataaataacGtttccttttctggccagagt	8	7	1	2			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr19:56373368G>A	ENST00000301295.6	+	5	2451	c.2029G>A	c.(2029-2031)Gtt>Att	p.V677I	NLRP4_ENST00000346986.5_Missense_Mutation_p.V677I|NLRP4_ENST00000587891.1_Missense_Mutation_p.V602I	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	677					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AATAAATAACGTTTCCTTTTC	0.423																																						ENST00000301295.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(2029-2031)Gtt>Att		NLR family, pyrin domain containing 4							139	138	139					19																	56373368		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56373368G>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2029G>A	19.37:g.56373368G>A	ENSP00000301295:p.Val677Ile					NLRP4_ENST00000346986.5_Missense_Mutation_p.V677I|NLRP4_ENST00000587891.1_Missense_Mutation_p.V602I	p.V677I	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	5	2451	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	677					Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.2029G>A	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.631309	0.28978	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.52526	0.66;0.66	3.26	1.06	0.20224	.	.	.	.	.	T	0.52565	0.1742	L	0.46157	1.445	0.09310	N	1	D;D;D	0.89917	0.987;1.0;1.0	P;D;D	0.87578	0.68;0.998;0.996	T	0.39014	-0.9634	9	0.23302	T	0.38	.	3.9261	0.09263	0.1273:0.0:0.6379:0.2348	.	677;602;677	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	I	677	ENSP00000301295:V677I;ENSP00000344787:V677I	ENSP00000301295:V677I	V	+	1	0	NLRP4	61065180	0.001000	0.12720	0.002000	0.10522	0.026000	0.11368	0.448000	0.21726	0.375000	0.24679	-0.311000	0.09066	GTT		0.423	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		33	63	0	0	0	0.00058488	0	33	63					A	56373368	G	A	56373368	3	1	282	1	0	0	0	0	1	0	0	0	10479	1145	40	1	2043	1	NLRP4	19	56373368	Missense_Mutation	SNP	G	TCGA-EM-A22J-01A-11D-A17V-08	1288006	56373368	2755615	20	6097											
DIDO1	11083	broad.mit.edu	37	chr20	61524262	61524262	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttccaaatggtgctgagtcGagacaaaaagagggtcgtgt	13	6	0	3			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr20:61524262G>A	ENST00000266070.4	-	13	3479	c.3154C>T	c.(3154-3156)Cga>Tga	p.R1052*	DIDO1_ENST00000395340.1_Nonsense_Mutation_p.R1052*|DIDO1_ENST00000395335.2_Nonsense_Mutation_p.R1052*|DIDO1_ENST00000395343.1_Nonsense_Mutation_p.R1052*	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1052					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R1052*(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTGCTGAGTCGAGACAAAAAG	0.423																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			1	Substitution - Nonsense(1)	p.R1052*(1)	large_intestine(1)	NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(3154-3156)Cga>Tga		death inducer-obliterator 1							117	105	109					20																	61524262		2203	4300	6503	SO:0001587	stop_gained	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61524262G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3154C>T	20.37:g.61524262G>A	ENSP00000266070:p.Arg1052*					DIDO1_ENST00000395335.2_Nonsense_Mutation_p.R1052*|DIDO1_ENST00000395340.1_Nonsense_Mutation_p.R1052*|DIDO1_ENST00000395343.1_Nonsense_Mutation_p.R1052*	p.R1052*	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			13	3479	-	Breast(26;5.68e-08)		1052					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Nonsense_Mutation	SNP	ENST00000266070.4	37	c.3154C>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	45	11.559260	0.99576	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	.	.	.	5.88	4.94	0.65067	.	0.000000	0.36519	U	0.002550	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.5963	15.002	0.71479	0.0681:0.0:0.9319:0.0	.	.	.	.	X	1052	.	ENSP00000266070:R1052X	R	-	1	2	DIDO1	60994707	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	3.587000	0.53957	1.504000	0.48704	-0.229000	0.12294	CGA		0.423	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		15	41	0	0	0	0.000219431	0	15	41					A	61524262	G	A	61524262	4	1	282	1	0	0	0	0	0	1	0	0	4522	1066	37	1	3613	1	DIDO1	20	61524262	Nonsense_Mutation	SNP	G	TCGA-EM-A22J-01A-11D-A17V-08		61524262	1501258	21	6098											
NOTCH2	4853	broad.mit.edu	37	chr1	120461954	120461954	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggaagacaccttgggcaTcagctgccactgcagcatgg	12	13	1	1			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr1:120461954T>G	ENST00000256646.2	-	31	5981	c.5762A>C	c.(5761-5763)gAt>gCt	p.D1921A		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1921					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACCTTGGGCATCAGCTGCCAC	0.468			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"N, F, Mis"	Notch homolog 2			L			"marginal zone lymphoma, DLBCL"		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(5761-5763)gAt>gCt		notch 2							59	56	57					1																	120461954		2203	4300	6503	SO:0001583	missense	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120461954T>G	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.5762A>C	1.37:g.120461954T>G	ENSP00000256646:p.Asp1921Ala						p.D1921A	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	31	5981	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1921					Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.5762A>C	CCDS908.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.467431	0.84533	.	.	ENSG00000134250	ENST00000256646	T	0.53857	0.6	5.64	5.64	0.86602	Ankyrin repeat-containing domain (4);	0.000000	0.38897	U	0.001523	T	0.51483	0.1677	N	0.25201	0.72	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.61262	-0.7098	10	0.87932	D	0	.	15.0356	0.71744	0.0:0.0:0.0:1.0	.	1921	Q04721	NOTC2_HUMAN	A	1921	ENSP00000256646:D1921A	ENSP00000256646:D1921A	D	-	2	0	NOTCH2	120263477	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.040000	0.89188	2.160000	0.67779	0.533000	0.62120	GAT		0.468	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		3	83	0	0	0	0.004672	0	3	83					G	120461954	T	G	120461954	3	3	283	1	0	0	0	0	1	0	0	0	10548	1435	50	5	1669	5	NOTCH2	1	120461954	Missense_Mutation	SNP	T	TCGA-EM-A22K-01A-11D-A17V-08		120461954	128788667	1	6099											
CCDC150	284992	broad.mit.edu	37	chr2	197521549	197521549	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aacatctttcggctgcaaacTgaaaaggatttgaatcctca	7	9	2	2	rs200786144		TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr2:197521549T>A	ENST00000389175.4	+	3	504	c.369T>A	c.(367-369)acT>acA	p.T123T	CCDC150_ENST00000423093.2_Intron|CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000472405.2_Silent_p.T20T	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	123										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GGCTGCAAACTGAAAAGGATT	0.388																																						ENST00000389175.4																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(367-369)acT>acA		coiled-coil domain containing 150							88	87	87					2																	197521549		1872	4106	5978	SO:0001819	synonymous_variant	284992							g.chr2:197521549T>A		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.369T>A	2.37:g.197521549T>A						CCDC150_ENST00000423093.2_Intron|CCDC150_ENST00000472405.2_Silent_p.T20T|CCDC150_ENST00000272831.7_Intron	p.T123T	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN			3	504	+			123					Q6P5U6|Q6P663|Q8N8V5	Silent	SNP	ENST00000389175.4	37	c.369T>A	CCDS46478.1																																																																																				0.388	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		4	46	0	0	0	0.009096	0	4	46					A	197521549	T	A	197521549	2	1	283	1	0	0	0	0	0	0	0	1	2785	1567	55	5		5	CCDC150	2	197521549	Silent	SNP	T	TCGA-EM-A22K-01A-11D-A17V-08		197521549	45677824	2	6100											
COL4A4	1286	broad.mit.edu	37	chr2	227979396	227979396	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaatttcctttttctcccTtttccccaggatggccctga	6	14	1	2			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr2:227979396T>C	ENST00000396625.3	-	8	713	c.506A>G	c.(505-507)aAg>aGg	p.K169R	COL4A4_ENST00000329662.7_Missense_Mutation_p.K169R	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	169	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTTTTCTCCCTTTTCCCCAGG	0.299																																						ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(505-507)aAg>aGg		collagen, type IV, alpha 4							111	100	103					2																	227979396		1806	4074	5880	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227979396T>C		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.506A>G	2.37:g.227979396T>C	ENSP00000379866:p.Lys169Arg					COL4A4_ENST00000329662.7_Missense_Mutation_p.K169R	p.K169R	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	8	713	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	169			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.506A>G	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	T	12.96	2.095251	0.36952	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.94232	-3.38;-3.22	5.51	-1.39	0.08997	.	.	.	.	.	D	0.89276	0.6669	M	0.67700	2.07	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.75216	-0.3396	9	0.27082	T	0.32	.	5.1502	0.15005	0.124:0.294:0.0:0.582	.	169	P53420	CO4A4_HUMAN	R	169	ENSP00000379866:K169R;ENSP00000328553:K169R	ENSP00000328553:K169R	K	-	2	0	COL4A4	227687640	0.131000	0.22433	0.000000	0.03702	0.987000	0.75469	0.259000	0.18405	-0.386000	0.07821	0.533000	0.62120	AAG		0.299	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		3	55	0	0	0	0.004672	0	3	55					C	227979396	T	C	227979396	3	2	283	1	0	0	0	0	1	0	0	0	3693	1609	56	3	4730	3	COL4A4	2	227979396	Missense_Mutation	SNP	T	TCGA-EM-A22K-01A-11D-A17V-08	30457847	227979396	15219977	3	6101											
MYRIP	25924	broad.mit.edu	37	chr3	40223732	40223732	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcccagtctgccttctcaAtcactggagaagaagccctg	10	13	3	2			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr3:40223732A>G	ENST00000302541.6	+	9	1237	c.895A>G	c.(895-897)Atc>Gtc	p.I299V	MYRIP_ENST00000539167.1_Missense_Mutation_p.I112V|MYRIP_ENST00000396217.3_Missense_Mutation_p.I210V|MYRIP_ENST00000444716.1_Missense_Mutation_p.I299V|MYRIP_ENST00000425621.1_Missense_Mutation_p.I299V|MYRIP_ENST00000459828.1_3'UTR	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	299	Myosin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		TGCCTTCTCAATCACTGGAGA	0.592																																						ENST00000302541.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(895-897)Atc>Gtc		myosin VIIA and Rab interacting protein							87	93	91					3																	40223732		2203	4300	6503	SO:0001583	missense	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40223732A>G	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"A-kinase anchor proteins"	19156	protein-coding gene	gene with protein product	"synaptotagmin-like protein homologue lacking C2 domains-c", "rab effector MYRIP", "Slp homologue lacking C2 domains"	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.895A>G	3.37:g.40223732A>G	ENSP00000301972:p.Ile299Val					MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000444716.1_Missense_Mutation_p.I299V|MYRIP_ENST00000539167.1_Missense_Mutation_p.I112V|MYRIP_ENST00000425621.1_Missense_Mutation_p.I299V|MYRIP_ENST00000396217.3_Missense_Mutation_p.I210V	p.I299V	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	9	1237	+			299			Myosin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	ENST00000302541.6	37	c.895A>G	CCDS2689.1	.	.	.	.	.	.	.	.	.	.	A	14.44	2.534980	0.45073	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000425621;ENST00000396217;ENST00000539167	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	5.27	0.92	0.19397	Myelin-associated oligodendrocytic basic protein (MOBP) (1);	0.458062	0.21428	N	0.074713	T	0.07369	0.0186	N	0.08118	0	0.18873	N	0.999981	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.08055	0.003;0.0;0.001	T	0.30327	-0.9982	9	.	.	.	.	2.1049	0.03688	0.2362:0.3865:0.2648:0.1125	.	210;299;299	Q32M42;G3XAI8;Q8NFW9	.;.;MYRIP_HUMAN	V	299;299;299;210;112	ENSP00000398665:I299V;ENSP00000301972:I299V;ENSP00000389323:I299V;ENSP00000379519:I210V;ENSP00000438297:I112V	.	I	+	1	0	MYRIP	40198736	0.869000	0.29996	0.000000	0.03702	0.550000	0.35303	1.725000	0.38074	-0.143000	0.11334	-0.274000	0.10170	ATC		0.592	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		4	128	0	0	0	0.009096	0	4	128					G	40223732	A	G	40223732	3	3	283	1	0	0	0	0	1	0	0	0	10100	101	4	3	925	3	MYRIP	3	40223732	Missense_Mutation	SNP	A	TCGA-EM-A22K-01A-11D-A17V-08		40223732	157798698	4	6102											
ANTXR2	118429	broad.mit.edu	37	chr4	80992749	80992749	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagatacctcacaaatctcTccgcaagttgctgtacgaaa	6	11	2	1			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr4:80992749T>C	ENST00000307333.7	-	2	214	c.212A>G	c.(211-213)gAg>gGg	p.E71G	ANTXR2_ENST00000295465.4_Missense_Mutation_p.E71G|ANTXR2_ENST00000404191.1_5'UTR|ANTXR2_ENST00000403729.2_Missense_Mutation_p.E71G|ANTXR2_ENST00000346652.6_Missense_Mutation_p.E71G	NM_001145794.1	NP_001139266.1	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	71	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				reproductive process (GO:0022414)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						CACAAATCTCTCCGCAAGTTG	0.368									Juvenile Hyaline Fibromatosis																													ENST00000403729.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						c.(211-213)gAg>gGg		anthrax toxin receptor 2							89	88	89					4																	80992749		1832	4092	5924	SO:0001583	missense	118429	Juvenile Hyaline Fibromatosis	Familial Cancer Database	incl. Infantile Systemic Hyalinosis		endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity	g.chr4:80992749T>C	AY040326	CCDS47085.1, CCDS47086.1, CCDS68733.1	4q21.3	2004-01-15			ENSG00000163297	ENSG00000163297			21732	protein-coding gene	gene with protein product	"capillary morphogenesis protein 2"	608041				11683410, 12700348	Standard	NM_058172		Approved	CMG2, CMG-2, FLJ31074	uc003hlz.4	P58335	OTTHUMG00000151982	ENST00000307333.7:c.212A>G	4.37:g.80992749T>C	ENSP00000306185:p.Glu71Gly					ANTXR2_ENST00000346652.6_Missense_Mutation_p.E71G|ANTXR2_ENST00000404191.1_5'UTR|ANTXR2_ENST00000307333.7_Missense_Mutation_p.E71G|ANTXR2_ENST00000295465.4_Missense_Mutation_p.E71G	p.E71G	NM_058172.5	NP_477520.2	P58335	ANTR2_HUMAN			2	737	-			71			VWFA.		Q4W5H6|Q59E98|Q5JPE9|Q86UI1|Q8N4J8|Q8NB13|Q96NC7	Missense_Mutation	SNP	ENST00000307333.7	37	c.212A>G	CCDS47086.1	.	.	.	.	.	.	.	.	.	.	t	9.987	1.229729	0.22542	.	.	ENSG00000163297	ENST00000403729;ENST00000346652;ENST00000307333;ENST00000295465	D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81	5.61	4.4	0.53042	von Willebrand factor, type A (3);	0.266366	0.41823	D	0.000805	T	0.73385	0.3580	L	0.28192	0.835	0.43439	D	0.995618	B;B;B	0.30937	0.301;0.017;0.008	B;B;B	0.26864	0.074;0.013;0.005	T	0.66634	-0.5874	10	0.25751	T	0.34	-6.9592	9.7388	0.40404	0.1546:0.0:0.0:0.8454	.	71;71;71	P58335-2;P58335;P58335-4	.;ANTR2_HUMAN;.	G	71	ENSP00000385575:E71G;ENSP00000314883:E71G;ENSP00000306185:E71G;ENSP00000295465:E71G	ENSP00000295465:E71G	E	-	2	0	ANTXR2	81211773	0.977000	0.34250	0.942000	0.38095	0.389000	0.30415	3.952000	0.56691	0.921000	0.36994	0.460000	0.39030	GAG		0.368	ANTXR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324663.1	NM_058172		26	26	0	0	0	0.004656	0	26	26					C	80992749	T	C	80992749	3	2	283	1	0	0	0	0	1	0	0	0	712	1551	54	3	1360	3	ANTXR2	4	80992749	Missense_Mutation	SNP	T	TCGA-EM-A22K-01A-11D-A17V-08		80992749	110161527	5	6103											
ZNF322A	79692	broad.mit.edu	37	chr6	26638435	26638435	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctgcatgtgttctctgatgtCctgaaagcgctaagtgatgc	11	9	1	3			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr6:26638435C>G	ENST00000415922.2	-	4	992	c.347G>C	c.(346-348)gGa>gCa	p.G116A	ZNF322_ENST00000471278.1_Missense_Mutation_p.G116A|RP11-457M11.2_ENST00000456172.1_RNA|ZNF322_ENST00000461899.1_5'Flank	NM_024639.4	NP_078915.2	Q6U7Q0	ZN322_HUMAN	zinc finger protein 322	116					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TCTCTGATGTCCTGAAAGCGC	0.413																																						ENST00000415922.2																			0											c.(346-348)gGa>gCa		zinc finger protein 322							162	162	162					6																	26638435		2201	4298	6499	SO:0001583	missense	79692				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr6:26638435C>G	AY376736	CCDS4617.1	6p22.1	2013-01-08	2011-07-29	2011-07-29	ENSG00000181315	ENSG00000181315		"Zinc fingers, C2H2-type"	23640	protein-coding gene	gene with protein product		610847	"zinc finger protein 489", "HLA complex group 12", "zinc finger protein 322A"	ZNF489, ZNF388, HCG12, ZNF322A		15555580	Standard	NM_024639		Approved	bA457M11.3, bA457M11.2	uc021yny.1	Q6U7Q0	OTTHUMG00000014460	ENST00000415922.2:c.347G>C	6.37:g.26638435C>G	ENSP00000418897:p.Gly116Ala					ZNF322_ENST00000471278.1_Missense_Mutation_p.G116A	p.G116A	NM_024639.4	NP_078915.2	Q6U7Q0	Z322A_HUMAN			4	992	-			116					A8K1X3|Q0VDH6|Q6B0G2|Q86W72|Q9H5I9	Missense_Mutation	SNP	ENST00000415922.2	37	c.347G>C	CCDS4617.1	.	.	.	.	.	.	.	.	.	.	c	6.323	0.427748	0.11987	.	.	ENSG00000181315	ENST00000415922;ENST00000471278	T;T	0.16597	2.33;2.33	5.03	4.16	0.48862	.	0.000000	0.38548	N	0.001649	T	0.01421	0.0046	N	0.00966	-1.09	0.28073	N	0.932495	P	0.38978	0.652	B	0.37780	0.258	T	0.32079	-0.9920	10	0.08837	T	0.75	-14.6223	6.9099	0.24329	0.0:0.8188:0.0:0.1812	.	116	Q6U7Q0	ZN322_HUMAN	A	116	ENSP00000418897:G116A;ENSP00000419728:G116A	ENSP00000418897:G116A	G	-	2	0	ZNF322	26746414	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	-3.382000	0.00490	2.776000	0.95493	0.655000	0.94253	GGA		0.413	ZNF322-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040126.2	NM_024639		3	126	0	0	0	0.004672	0	3	126					G	26638435	C	G	26638435	3	3	283	1	0	0	0	0	1	0	0	0	17838	855	30	4	865	4	ZNF322A	6	26638435	Missense_Mutation	SNP	C	TCGA-EM-A22K-01A-11D-A17V-08		26638435	144476632	6	6104											
TIAM2	26230	broad.mit.edu	37	chr6	155458519	155458519	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttcatgcgagagttggaaaTgagcaggaccaacactgaga	12	7	1	3			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr6:155458519T>A	ENST00000461783.3	+	7	2676	c.1403T>A	c.(1402-1404)aTg>aAg	p.M468K	TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Missense_Mutation_p.M468K|TIAM2_ENST00000318981.5_Missense_Mutation_p.M468K|TIAM2_ENST00000529824.2_Missense_Mutation_p.M468K|TIAM2_ENST00000456144.1_Missense_Mutation_p.M468K			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	468					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GAGTTGGAAATGAGCAGGACC	0.493																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(1402-1404)aTg>aAg		T-cell lymphoma invasion and metastasis 2							106	114	111					6																	155458519		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155458519T>A		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.1403T>A	6.37:g.155458519T>A	ENSP00000437188:p.Met468Lys					TIAM2_ENST00000360366.4_Missense_Mutation_p.M468K|TIAM2_ENST00000456144.1_Missense_Mutation_p.M468K|TIAM2_ENST00000529824.2_Missense_Mutation_p.M468K|TIAM2_ENST00000318981.5_Missense_Mutation_p.M468K|TIAM2_ENST00000367174.2_5'UTR	p.M468K			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	7	2676	+		Ovarian(120;0.196)	468					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.1403T>A	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	T	14.41	2.527491	0.44969	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.05513	3.54;3.43;3.5;3.54;3.54;3.5	6.08	4.93	0.64822	.	0.181406	0.64402	D	0.000013	T	0.04363	0.0120	M	0.75264	2.295	0.80722	D	1	P;B	0.38767	0.646;0.363	B;B	0.30572	0.117;0.055	T	0.07177	-1.0786	10	0.87932	D	0	.	11.6879	0.51497	0.0:0.0683:0.0:0.9317	.	468;468	Q8IVF5-2;Q8IVF5	.;TIAM2_HUMAN	K	468;714;468;468;468;468;468	ENSP00000437188:M468K;ENSP00000434901:M468K;ENSP00000407746:M468K;ENSP00000327315:M468K;ENSP00000353528:M468K;ENSP00000433348:M468K	ENSP00000327315:M468K	M	+	2	0	TIAM2	155500211	1.000000	0.71417	0.991000	0.47740	0.475000	0.33008	3.717000	0.54911	2.333000	0.79357	0.533000	0.62120	ATG		0.493	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		6	171	0	0	0	0.001168	0	6	171					A	155458519	T	A	155458519	3	1	283	1	0	0	0	0	1	0	0	0	15888	1464	51	5	1409	5	TIAM2	6	155458519	Missense_Mutation	SNP	T	TCGA-EM-A22K-01A-11D-A17V-08	128820084	155458519	15656548	7	6105											
XPNPEP1	7511	broad.mit.edu	37	chr10	111642324	111642324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgcacctggatcctgtattCggcttccagacccaagtcaa	8	13	1	1	rs372041068		TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr10:111642324C>T	ENST00000502935.1	-	10	1026	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	XPNPEP1_ENST00000369683.1_Missense_Mutation_p.E189K|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.E303K|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.E260K|XPNPEP1_ENST00000430337.1_5'UTR					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble											endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		ATCCTGTATTCGGCTTCCAGA	0.572																																						ENST00000369680.4																			0				endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31						c.(778-780)Gaa>Aaa		X-prolyl aminopeptidase (aminopeptidase P) 1, soluble		C	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	133	120	125		907,907	5.8	0.2	10		125	0,8600		0,0,4300	no	missense,missense	XPNPEP1	NM_001167604.1,NM_020383.3	56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	303/643,303/667	111642324	1,13005	2203	4300	6503	SO:0001583	missense	7511				bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	g.chr10:111642324C>T		CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"X-prolyl aminopeptidase (aminopeptidase P)-like"	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.907G>A	10.37:g.111642324C>T	ENSP00000421566:p.Glu303Lys					XPNPEP1_ENST00000430337.1_5'UTR|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.E303K|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.E189K|XPNPEP1_ENST00000502935.1_Missense_Mutation_p.E303K	p.E260K	NM_020383.3	NP_065116.3	Q9NQW7	XPP1_HUMAN		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)	10	1026	-		Breast(234;0.174)	260						Missense_Mutation	SNP	ENST00000502935.1	37	c.778G>A	CCDS7560.2	.	.	.	.	.	.	.	.	.	.	C	17.38	3.373941	0.61735	2.27E-4	0.0	ENSG00000108039	ENST00000502935;ENST00000369683;ENST00000322238;ENST00000369680;ENST00000403138;ENST00000423625	.	.	.	5.82	5.82	0.92795	.	0.095649	0.64402	D	0.000001	T	0.42471	0.1204	L	0.31120	0.905	0.58432	D	0.999999	P;B;B	0.35348	0.496;0.077;0.011	B;B;B	0.13407	0.009;0.005;0.001	T	0.32534	-0.9903	9	0.23891	T	0.37	-20.7264	18.2859	0.90114	0.0:1.0:0.0:0.0	.	303;303;260	B4E2P4;G5E9Y2;Q9NQW7	.;.;XPP1_HUMAN	K	303;189;303;260;260;228	.	ENSP00000324011:E303K	E	-	1	0	XPNPEP1	111632314	1.000000	0.71417	0.198000	0.23420	0.858000	0.48976	6.985000	0.76193	2.757000	0.94681	0.655000	0.94253	GAA		0.572	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2			36	82	0	0	0	0.004878	0	36	82					T	111642324	C	T	111642324	3	4	283	1	0	0	0	0	1	0	0	0	17439	893	31	1	1141	1	XPNPEP1	10	111642324	Missense_Mutation	SNP	C	TCGA-EM-A22K-01A-11D-A17V-08		111642324	23892423	8	6106											
HRAS	3265	broad.mit.edu	37	chr11	533875	533875	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catggcgctgtactcctcctGgccggcggtatccaggatgt	13	13	0	0	rs28933406		TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr11:533875G>T	ENST00000451590.1	-	3	368	c.181C>A	c.(181-183)Cag>Aag	p.Q61K	HRAS_ENST00000311189.7_Missense_Mutation_p.Q61K|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61K|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61K|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61K	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61K(61)|p.Q61R(1)|p.Q61E(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TACTCCTCCTGGCCGGCGGTA	0.597		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		63	Substitution - Missense(63)	p.Q61K(61)|p.Q61R(1)|p.Q61E(1)	thyroid(23)|skin(18)|urinary_tract(8)|upper_aerodigestive_tract(4)|soft_tissue(4)|testis(2)|lung(2)|cervix(1)|kidney(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)Cag>Aag		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117	102	107					11																	533875		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533875G>T	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.181C>A	11.37:g.533875G>T	ENSP00000407586:p.Gln61Lys	HNSCC(11;0.0054)				HRAS_ENST00000397594.1_Missense_Mutation_p.Q61K|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61K|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61K|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61K|HRAS_ENST00000468682.2_5'UTR	p.Q61K	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	368	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.181C>A	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855718	0.51376	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88644	0.6492	H	0.96604	3.85	0.80722	D	1	B;B	0.19073	0.033;0.012	B;B	0.19391	0.015;0.025	D	0.89618	0.3846	10	0.62326	D	0.03	.	14.8426	0.70237	0.0:0.0:1.0:0.0	rs28933406	61;61	P01112-2;P01112	.;RASH_HUMAN	K	61	ENSP00000380722:Q61K;ENSP00000380723:Q61K;ENSP00000407586:Q61K;ENSP00000388246:Q61K;ENSP00000309845:Q61K	ENSP00000309845:Q61K	Q	-	1	0	HRAS	523875	1.000000	0.71417	0.987000	0.45799	0.459000	0.32528	9.476000	0.97823	2.045000	0.60652	0.561000	0.74099	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		47	81	1	0	3.68337e-26	0.01441	9.20843e-26	47	81					T	533875	G	T	533875	3	4	283	1	0	0	0	0	1	0	0	0	7348	1357	47	4	467	4	HRAS	11	533875	Missense_Mutation	SNP	G	TCGA-EM-A22K-01A-11D-A17V-08		533875	134472641	9	6107											
AKAP11	11215	broad.mit.edu	37	chr13	42874704	42874704	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcgtgcattttcactaAaagaacgtgccattagtggc	11	9	1	1			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr13:42874704A>T	ENST00000025301.2	+	8	1997	c.1822A>T	c.(1822-1824)Aaa>Taa	p.K608*		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	608					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		ATTTTCACTAAAAGAACGTGC	0.383																																						ENST00000025301.2																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56						c.(1822-1824)Aaa>Taa		A kinase (PRKA) anchor protein 11							82	78	79					13																	42874704		2203	4300	6503	SO:0001587	stop_gained	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42874704A>T	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	369	protein-coding gene	gene with protein product	"AKAP 220", "A-kinase anchoring protein, 220kDa", "protein kinase A anchoring protein 11", "protein phosphatase 1, regulatory subunit 44"	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.1822A>T	13.37:g.42874704A>T	ENSP00000025301:p.Lys608*						p.K608*	NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	1997	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	608					O75124|Q9NUK7	Nonsense_Mutation	SNP	ENST00000025301.2	37	c.1822A>T	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	A	39	7.598592	0.98381	.	.	ENSG00000023516	ENST00000025301	.	.	.	6.07	4.88	0.63580	.	0.111062	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.592	0.61966	0.8704:0.1296:0.0:0.0	.	.	.	.	X	608	.	ENSP00000025301:K608X	K	+	1	0	AKAP11	41772704	1.000000	0.71417	0.864000	0.33941	0.969000	0.65631	7.098000	0.76974	1.093000	0.41377	0.477000	0.44152	AAA		0.383	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		5	42	0	0	0	0.000602	0	5	42					T	42874704	A	T	42874704	4	4	283	1	0	0	0	0	0	1	0	0	447	15	1	5	1844	5	AKAP11	13	42874704	Nonsense_Mutation	SNP	A	TCGA-EM-A22K-01A-11D-A17V-08		42874704	72295174	10	6108											
DLGAP5	9787	broad.mit.edu	37	chr14	55637441	55637441	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atcatctggaatgtccaattCaagtttcctgtcccactcga	6	12	3	0			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr14:55637441C>G	ENST00000247191.2	-	11	1582	c.1366G>C	c.(1366-1368)Gaa>Caa	p.E456Q	DLGAP5_ENST00000395425.2_Missense_Mutation_p.E456Q	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	456					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						ATGTCCAATTCAAGTTTCCTG	0.333																																						ENST00000247191.2																			0				biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(1366-1368)Gaa>Caa		discs, large (Drosophila) homolog-associated protein 5							173	145	155					14																	55637441		2203	4300	6503	SO:0001583	missense	9787				cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding	g.chr14:55637441C>G	D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"discs, large homolog 7 (Drosophila)"	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.1366G>C	14.37:g.55637441C>G	ENSP00000247191:p.Glu456Gln					DLGAP5_ENST00000395425.2_Missense_Mutation_p.E456Q	p.E456Q	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN			11	1582	-			456					A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	ENST00000247191.2	37	c.1366G>C	CCDS9723.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.337639	0.41398	.	.	ENSG00000126787	ENST00000395425;ENST00000247191	T;T	0.24538	1.85;1.85	5.4	3.48	0.39840	.	0.270105	0.40554	N	0.001068	T	0.34978	0.0916	M	0.74389	2.26	0.37008	D	0.895616	B;B	0.29162	0.235;0.132	B;B	0.38156	0.266;0.251	T	0.46978	-0.9152	10	0.66056	D	0.02	.	11.3611	0.49644	0.0:0.7733:0.1549:0.0717	.	456;456	A8MTM6;Q15398	.;DLGP5_HUMAN	Q	456	ENSP00000378815:E456Q;ENSP00000247191:E456Q	ENSP00000247191:E456Q	E	-	1	0	DLGAP5	54707194	1.000000	0.71417	0.951000	0.38953	0.507000	0.33981	2.774000	0.47694	1.317000	0.45149	0.561000	0.74099	GAA		0.333	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	NM_014750		28	40	0	0	0	0.009535	0	28	40					G	55637441	C	G	55637441	3	3	283	1	0	0	0	0	1	0	0	0	4563	835	29	4	1305	4	DLGAP5	14	55637441	Missense_Mutation	SNP	C	TCGA-EM-A22K-01A-11D-A17V-08		55637441	51712099	11	6109											
EIF2AK4	440275	broad.mit.edu	37	chr15	40308702	40308702	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgcccctttgctttccaGctgtgtcgactctacaagtt	8	13	1	0			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr15:40308702G>A	ENST00000263791.5	+	28	3802		c.e28-1		EIF2AK4_ENST00000382727.2_Splice_Site	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4						cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TTGCTTTCCAGCTGTGTCGAC	0.473																																						ENST00000263791.5																			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40						c.e28-1		eukaryotic translation initiation factor 2 alpha kinase 4							66	68	68					15																	40308702		2069	4220	6289	SO:0001630	splice_region_variant	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40308702G>A	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.3760-1G>A	15.37:g.40308702G>A						EIF2AK4_ENST00000382727.2_Splice_Site		NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	28	3802	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)						C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Splice_Site	SNP	ENST00000263791.5	37		CCDS42016.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.251288	0.80135	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8977	0.58109	0.0747:0.0:0.9253:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EIF2AK4	38095994	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.593000	0.82686	2.704000	0.92352	0.643000	0.83706	.		0.473	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1		Intron	3	49	0	0	0	0.009096	0	3	49					A	40308702	G	A	40308702	5	1	283	1	0	0	0	0	0	0	1	0	4999	985	34	2	3869	2	EIF2AK4	15	40308702	Splice_Site	SNP	G	TCGA-EM-A22K-01A-11D-A17V-08		40308702	62222690	12	6110											
IGDCC4	57722	broad.mit.edu	37	chr15	65677333	65677333	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctgcagcaacagcgtctGcccagttccagcagggggca	13	14	1	0			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr15:65677333G>A	ENST00000352385.2	-	19	3510	c.3301C>T	c.(3301-3303)Cag>Tag	p.Q1101*	IGDCC4_ENST00000558048.1_5'UTR	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						AACAGCGTCTGCCCAGTTCCA	0.662											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000352385.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(3301-3303)Cag>Tag		immunoglobulin superfamily, DCC subclass, member 4							52	63	59					15																	65677333		2196	4298	6494	SO:0001587	stop_gained	57722					integral to membrane|plasma membrane		g.chr15:65677333G>A		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13770	protein-coding gene	gene with protein product	"likely ortholog of mouse neighbor of Punc E11"						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.3301C>T	15.37:g.65677333G>A	ENSP00000319623:p.Gln1101*		OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1086	IGDCC4_ENST00000558048.1_5'UTR	p.Q1101*	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN			19	3510	-			1101					Q9HCE4	Nonsense_Mutation	SNP	ENST00000352385.2	37	c.3301C>T	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	G	43	10.402654	0.99398	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	.	.	.	5.23	5.23	0.72850	.	0.000000	0.50627	D	0.000110	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-17.8646	15.9369	0.79717	0.0:0.0:1.0:0.0	.	.	.	.	X	1101;830	.	ENSP00000319623:Q1101X	Q	-	1	0	IGDCC4	63464386	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.867000	0.56047	2.444000	0.82710	0.561000	0.74099	CAG		0.662	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		5	129	0	0	0	0.001168	0	5	129					A	65677333	G	A	65677333	4	1	283	1	0	0	0	0	0	1	0	0	7569	1328	46	2	459	2	IGDCC4	15	65677333	Nonsense_Mutation	SNP	G	TCGA-EM-A22K-01A-11D-A17V-08	25368631	65677333	36854059	13	6111											
NFAT5	10725	broad.mit.edu	37	chr16	69729160	69729160	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaacacttctttctcagcaAatgccagagaattctccact	4	13	3	1			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr16:69729160A>G	ENST00000354436.2	+	13	4800	c.4482A>G	c.(4480-4482)caA>caG	p.Q1494Q	NFAT5_ENST00000432919.1_Silent_p.Q1512Q|NFAT5_ENST00000349945.1_Silent_p.Q1418Q|NFAT5_ENST00000566899.1_Silent_p.Q1418Q|NFAT5_ENST00000567239.1_Silent_p.Q1511Q|NFAT5_ENST00000393742.2_Silent_p.Q1418Q	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1494					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TTTCTCAGCAAATGCCAGAGA	0.463																																						ENST00000349945.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(4252-4254)caA>caG		nuclear factor of activated T-cells 5, tonicity-responsive							124	113	117					16																	69729160		2198	4300	6498	SO:0001819	synonymous_variant	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69729160A>G	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"Nuclear factor of activated T-cells"	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.4482A>G	16.37:g.69729160A>G						NFAT5_ENST00000566899.1_Silent_p.Q1418Q|NFAT5_ENST00000354436.2_Silent_p.Q1494Q|NFAT5_ENST00000432919.1_Silent_p.Q1512Q|NFAT5_ENST00000393742.2_Silent_p.Q1418Q|NFAT5_ENST00000567239.1_Silent_p.Q1511Q	p.Q1418Q	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			15	5806	+			1494					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Silent	SNP	ENST00000354436.2	37	c.4254A>G	CCDS10881.1																																																																																				0.463	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		14	72	0	0	0	0.001855	0	14	72					G	69729160	A	G	69729160	2	3	283	1	0	0	0	0	0	0	0	1	10360	11	1	3		3	NFAT5	16	69729160	Silent	SNP	A	TCGA-EM-A22K-01A-11D-A17V-08		69729160	20625593	14	6112											
KIAA0100	9703	broad.mit.edu	37	chr17	26961608	26961608	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctaatccctcagggggaaaAgggctgcctggatcaagctc	12	11	3	0			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr17:26961608A>G	ENST00000528896.2	-	16	3071	c.2997T>C	c.(2995-2997)ccT>ccC	p.P999P	RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Silent_p.P856P|RP11-192H23.7_ENST00000583787.1_RNA|KIAA0100_ENST00000389003.3_Silent_p.P856P	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	999						extracellular region (GO:0005576)		p.P999P(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CAGGGGGAAAAGGGCTGCCTG	0.493																																						ENST00000528896.2																			1	Substitution - coding silent(1)	p.P999P(1)	prostate(1)	breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(2995-2997)ccT>ccC		KIAA0100							110	106	107					17																	26961608		2203	4300	6503	SO:0001819	synonymous_variant	9703					extracellular region		g.chr17:26961608A>G	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.2997T>C	17.37:g.26961608A>G						RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Silent_p.P856P|KIAA0100_ENST00000389003.3_Silent_p.P856P	p.P999P	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			16	3071	-	Lung NSC(42;0.00431)		999					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	ENST00000528896.2	37	c.2997T>C	CCDS32595.1																																																																																				0.493	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		3	148	0	0	0	0.009096	0	3	148					G	26961608	A	G	26961608	2	3	283	1	0	0	0	0	0	0	0	1	8154	59	3	3		3	KIAA0100	17	26961608	Silent	SNP	A	TCGA-EM-A22K-01A-11D-A17V-08		26961608	54233602	15	6113											
TMEM143	55260	broad.mit.edu	37	chr19	48863423	48863423	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ccgccttctctgccggactcGagtggaattcctgttacctc	9	15	1	0			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr19:48863423G>C	ENST00000293261.3	-	3	591	c.275C>G	c.(274-276)tCg>tGg	p.S92W	TMEM143_ENST00000436660.2_Missense_Mutation_p.S92W|TMEM143_ENST00000377431.2_Intron|TMEM143_ENST00000435956.3_Intron|TMEM143_ENST00000541566.1_Intron|TMEM143_ENST00000598012.1_5'Flank	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	92					hematopoietic progenitor cell differentiation (GO:0002244)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		TGCCGGACTCGAGTGGAATTC	0.562																																						ENST00000293261.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14						c.(274-276)tCg>tGg		transmembrane protein 143							69	67	67					19																	48863423		2203	4300	6503	SO:0001583	missense	55260					integral to membrane|mitochondrion		g.chr19:48863423G>C	AK129801	CCDS12716.1	19q13.32	2008-02-05				ENSG00000161558			25603	protein-coding gene	gene with protein product						12975309	Standard	NM_018273		Approved	FLJ10922	uc002pix.1	Q96AN5		ENST00000293261.3:c.275C>G	19.37:g.48863423G>C	ENSP00000293261:p.Ser92Trp					TMEM143_ENST00000436660.2_Missense_Mutation_p.S92W|TMEM143_ENST00000377431.2_Intron|TMEM143_ENST00000435956.3_Intron|TMEM143_ENST00000541566.1_Intron	p.S92W	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)	3	591	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)	92					A8K656|Q6UXY4|Q9NV49	Missense_Mutation	SNP	ENST00000293261.3	37	c.275C>G	CCDS12716.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.997460	0.35226	.	.	ENSG00000161558	ENST00000293261;ENST00000436660	T	0.46451	0.87	4.87	3.77	0.43336	.	0.213192	0.32287	N	0.006310	T	0.45357	0.1338	N	0.19112	0.55	0.33610	D	0.603466	D;B	0.76494	0.999;0.323	D;B	0.68039	0.955;0.051	T	0.57997	-0.7714	10	0.62326	D	0.03	-25.4429	11.8196	0.52230	0.0:0.1775:0.8225:0.0	.	92;92	B4DPF8;Q96AN5	.;TM143_HUMAN	W	92	ENSP00000293261:S92W	ENSP00000293261:S92W	S	-	2	0	TMEM143	53555235	1.000000	0.71417	0.998000	0.56505	0.876000	0.50452	3.208000	0.51114	2.445000	0.82738	0.650000	0.86243	TCG		0.562	TMEM143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465622.1	NM_018273		3	57	0	0	0	0.009096	0	3	57					C	48863423	G	C	48863423	3	2	283	1	0	0	0	0	1	0	0	0	16054	1059	37	4	1128	4	TMEM143	19	48863423	Missense_Mutation	SNP	G	TCGA-EM-A22K-01A-11D-A17V-08		48863423	10265560	16	6114											
C20orf103	24141	broad.mit.edu	37	chr20	9498782	9498782	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcaacaaaccatttcactgGcctctagtgatccgcagaag	7	13	3	2	rs527594563		TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr20:9498782G>T	ENST00000246070.2	+	5	1063	c.571G>T	c.(571-573)Gcc>Tcc	p.A191S	LAMP5_ENST00000427562.2_Missense_Mutation_p.A147S	NM_012261.3	NP_036393.1	Q9UJQ1	LAMP5_HUMAN	lysosomal-associated membrane protein family, member 5	191						cytoplasmic vesicle membrane (GO:0030659)|dendrite membrane (GO:0032590)|early endosome membrane (GO:0031901)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|endosome membrane (GO:0010008)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)											CATTTCACTGGCCTCTAGTGA	0.507																																						ENST00000246070.2																			0											c.(571-573)Gcc>Tcc		lysosomal-associated membrane protein family, member 5							130	103	112					20																	9498782		2203	4300	6503	SO:0001583	missense	24141					integral to membrane		g.chr20:9498782G>T	AL121740	CCDS13106.1, CCDS56177.1	20p12	2013-03-14	2011-11-25	2011-11-25	ENSG00000125869	ENSG00000125869			16097	protein-coding gene	gene with protein product	"brain and dendritic cell associated LAMP"	614641	"chromosome 20 open reading frame 103"	C20orf103		11780052, 21642595	Standard	NM_012261		Approved	dJ1119D9.3, BAD-LAMP, UNC-43	uc002wni.2	Q9UJQ1	OTTHUMG00000031851	ENST00000246070.2:c.571G>T	20.37:g.9498782G>T	ENSP00000246070:p.Ala191Ser					LAMP5_ENST00000427562.2_Missense_Mutation_p.A147S	p.A191S	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN			5	1063	+			191					B4DHZ7|B7Z9Z9	Missense_Mutation	SNP	ENST00000246070.2	37	c.571G>T	CCDS13106.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.514596	0.27123	.	.	ENSG00000125869	ENST00000246070;ENST00000427562	T;T	0.25579	1.79;1.79	5.84	2.48	0.30137	.	0.432644	0.27946	N	0.017216	T	0.12135	0.0295	N	0.14661	0.345	0.26049	N	0.981504	B;B	0.15141	0.01;0.012	B;B	0.21917	0.022;0.037	T	0.23084	-1.0198	9	.	.	.	-5.9987	4.9837	0.14180	0.2737:0.3029:0.4234:0.0	.	147;191	Q9UJQ1-2;Q9UJQ1	.;CT103_HUMAN	S	191;147	ENSP00000246070:A191S;ENSP00000406360:A147S	.	A	+	1	0	C20orf103	9446782	0.966000	0.33281	0.962000	0.40283	0.712000	0.41017	1.784000	0.38674	0.801000	0.34066	0.655000	0.94253	GCC		0.507	LAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077946.2	NM_012261		24	44	1	0	2.21704e-12	0.00278	5.41369e-12	24	44					T	9498782	G	T	9498782	3	4	283	1	0	0	0	0	1	0	0	0	2075	1203	42	4	589	4	C20orf103	20	9498782	Missense_Mutation	SNP	G	TCGA-EM-A22K-01A-11D-A17V-08		9498782	53526738	17	6115											
SCUBE1	80274	broad.mit.edu	37	chr22	43619190	43619190	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacagctgggcccggggggAggtcttggcgcgagaaagac	20	9	1	2			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr22:43619190A>G	ENST00000360835.4	-	11	1366	c.1240T>C	c.(1240-1242)Tcc>Ccc	p.S414P		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	414					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GCCCGGGGGGAGGTCTTGGCG	0.647																																						ENST00000360835.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1240-1242)Tcc>Ccc		signal peptide, CUB domain, EGF-like 1							80	88	85					22																	43619190		2203	4300	6503	SO:0001583	missense	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43619190A>G		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.1240T>C	22.37:g.43619190A>G	ENSP00000354080:p.Ser414Pro						p.S414P	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN			11	1366	-		all_neural(38;0.0414)|Ovarian(80;0.07)	414					Q5R336	Missense_Mutation	SNP	ENST00000360835.4	37	c.1240T>C	CCDS14048.1	.	.	.	.	.	.	.	.	.	.	A	5.546	0.285600	0.10513	.	.	ENSG00000159307	ENST00000360835	D	0.85411	-1.98	5.14	1.49	0.22878	.	0.811742	0.11434	N	0.564530	T	0.67069	0.2854	N	0.12182	0.205	0.33766	D	0.6225	B	0.02656	0.0	B	0.06405	0.002	T	0.59747	-0.7396	10	0.23302	T	0.38	.	3.154	0.06498	0.36:0.4321:0.0884:0.1195	.	414	Q8IWY4	SCUB1_HUMAN	P	414	ENSP00000354080:S414P	ENSP00000354080:S414P	S	-	1	0	SCUBE1	41949134	0.747000	0.28283	0.001000	0.08648	0.016000	0.09150	0.495000	0.22483	0.369000	0.24510	0.459000	0.35465	TCC		0.647	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		4	108	0	0	0	0.001168	0	4	108					G	43619190	A	G	43619190	3	3	283	1	0	0	0	0	1	0	0	0	13944	304	11	3	1774	3	SCUBE1	22	43619190	Missense_Mutation	SNP	A	TCGA-EM-A22K-01A-11D-A17V-08		43619190	7685376	18	6116											
ZXDB	158586	broad.mit.edu	37	chrX	57619097	57619097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctcctgcccagcagcccGggtgtctgatcgccccgcaa	11	19	1	1			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chrX:57619097G>A	ENST00000374888.1	+	1	829	c.616G>A	c.(616-618)Ggg>Agg	p.G206R		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	206					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.G206R(2)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CCAGCAGCCCGGGTGTCTGAT	0.711																																						ENST00000374888.1																			2	Substitution - Missense(2)	p.G206R(2)	lung(1)|prostate(1)	NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						c.(616-618)Ggg>Agg		zinc finger, X-linked, duplicated B							12	14	13					X																	57619097		2186	4257	6443	SO:0001583	missense	158586				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chrX:57619097G>A	L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"Zinc fingers, C2H2-type"	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.616G>A	X.37:g.57619097G>A	ENSP00000364023:p.Gly206Arg						p.G206R	NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN			1	829	+			206					A8K151|Q9UBB3	Missense_Mutation	SNP	ENST00000374888.1	37	c.616G>A	CCDS35313.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.654782	0.00108	.	.	ENSG00000198455	ENST00000374888	T	0.11063	2.81	2.65	1.78	0.24846	.	0.160870	0.29602	N	0.011697	T	0.04452	0.0122	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41787	-0.9489	10	0.15952	T	0.53	.	4.3042	0.10938	0.3435:0.0:0.6565:0.0	.	206	P98169	ZXDB_HUMAN	R	206	ENSP00000364023:G206R	ENSP00000364023:G206R	G	+	1	0	ZXDB	57635822	0.000000	0.05858	0.002000	0.10522	0.045000	0.14185	-0.287000	0.08388	0.520000	0.28426	0.556000	0.70494	GGG		0.711	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	NM_007157		3	38	0	0	0	0.004672	0	3	38					A	57619097	G	A	57619097	3	1	283	1	0	0	0	0	1	0	0	0	18248	1116	39	1	618	1	ZXDB	23	57619097	Missense_Mutation	SNP	G	TCGA-EM-A22K-01A-11D-A17V-08		57619097	97651463	19	6117											
NRAS	4893	broad.mit.edu	37	chr1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catggcactgtactcttcttGtccagctgtatccagtatgt	8	11	2	0	rs121913254		TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		610	Substitution - Missense(609)|Complex(1)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)	skin(372)|haematopoietic_and_lymphoid_tissue(73)|thyroid(55)|NS(29)|large_intestine(28)|soft_tissue(16)|lung(12)|autonomic_ganglia(6)|liver(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|cervix(2)|endometrium(2)|pancreas(2)|meninges(1)|kidney(1)|biliary_tract(1)|stomach(1)|ovary(1)|bone(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)Caa>Aaa		neuroblastoma RAS viral (v-ras) oncogene homolog							180	156	164					1																	115256530		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256530G>T	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.181C>A	1.37:g.115256530G>T	ENSP00000358548:p.Gln61Lys	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61K	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	434	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.181C>A	CCDS877.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255564	0.95336	.	.	ENSG00000213281	ENST00000369535	D	0.83506	-1.73	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.91845	0.7419	H	0.95850	3.73	0.80722	D	1	P	0.51791	0.948	P	0.54759	0.76	D	0.93711	0.7024	10	0.62326	D	0.03	.	18.6626	0.91477	0.0:0.0:1.0:0.0	.	61	P01111	RASN_HUMAN	K	61	ENSP00000358548:Q61K	ENSP00000358548:Q61K	Q	-	1	0	NRAS	115058053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.520000	0.98027	2.624000	0.88883	0.655000	0.94253	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		64	106	1	0	5.73332e-34	0.00361	1.01289e-32	64	106					T	115256530	G	T	115256530	3	4	284	1	0	0	0	0	1	0	0	0	10640	1386	48	4	400	4	NRAS	1	115256530	Missense_Mutation	SNP	G	TCGA-EM-A22L-01A-11D-A17V-08		115256530	133994091	1	6118											
HMCN1	83872	broad.mit.edu	37	chr1	186122946	186122946	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcctactcaacccggctgtTcaccattgatggcatcagca	8	15	3	1			TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr1:186122946T>C	ENST00000271588.4	+	97	15312	c.15083T>C	c.(15082-15084)tTc>tCc	p.F5028S	HMCN1_ENST00000367492.2_Missense_Mutation_p.F5028S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5028	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACCCGGCTGTTCACCATTGAT	0.463																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(15082-15084)tTc>tCc		hemicentin 1							120	107	111					1																	186122946		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186122946T>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.15083T>C	1.37:g.186122946T>C	ENSP00000271588:p.Phe5028Ser					HMCN1_ENST00000367492.2_Missense_Mutation_p.F5028S	p.F5028S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			97	15312	+			5028			Nidogen G2 beta-barrel.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.15083T>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.587081	0.86851	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.28895	1.59;1.59	5.62	5.62	0.85841	G2 nidogen/fibulin G2F (2);Green fluorescent protein-like (1);	0.000000	0.85682	D	0.000000	T	0.57799	0.2078	M	0.78637	2.42	0.58432	D	0.999997	D	0.89917	1.0	D	0.80764	0.994	T	0.63129	-0.6706	10	0.87932	D	0	.	15.8388	0.78824	0.0:0.0:0.0:1.0	.	5028	Q96RW7	HMCN1_HUMAN	S	5028	ENSP00000271588:F5028S;ENSP00000356462:F5028S	ENSP00000271588:F5028S	F	+	2	0	HMCN1	184389569	1.000000	0.71417	0.994000	0.49952	0.968000	0.65278	6.128000	0.71650	2.129000	0.65627	0.533000	0.62120	TTC		0.463	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		17	35	0	0	0	0.004007	0	17	35					C	186122946	T	C	186122946	3	2	284	1	0	0	0	0	1	0	0	0	7220	1783	62	3	15469	3	HMCN1	1	186122946	Missense_Mutation	SNP	T	TCGA-EM-A22L-01A-11D-A17V-08	70866416	186122946	63127675	2	6119											
PROS1	5627	broad.mit.edu	37	chr3	93624630	93624630	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctaccatcctgctcttacctTtacaatctttcttatttgaa	2	12	3	1			TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr3:93624630T>A	ENST00000394236.3	-	6	915	c.599A>T	c.(598-600)aAa>aTa	p.K200I	PROS1_ENST00000407433.1_Missense_Mutation_p.K69I	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	200	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GCTCTTACCTTTACAATCTTT	0.303																																						ENST00000394236.3																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46						c.(598-600)aAa>aTa		protein S (alpha)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						59	59	59					3																	93624630		2203	4297	6500	SO:0001583	missense	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93624630T>A		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.599A>T	3.37:g.93624630T>A	ENSP00000377783:p.Lys200Ile					PROS1_ENST00000407433.1_Missense_Mutation_p.K69I	p.K200I	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN			6	915	-			200			EGF-like 2; calcium-binding (Potential).		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.599A>T	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	T	11.83	1.756760	0.31137	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	D;D	0.86497	-2.13;-2.13	4.44	-0.518	0.11943	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.521097	0.21124	N	0.079767	T	0.67306	0.2879	N	0.04148	-0.265	0.28488	N	0.914617	B	0.30482	0.281	B	0.24701	0.055	T	0.60100	-0.7329	10	0.31617	T	0.26	.	9.3	0.37840	0.0:0.4489:0.0:0.5511	.	200	P07225	PROS_HUMAN	I	200;69	ENSP00000377783:K200I;ENSP00000385794:K69I	ENSP00000377783:K200I	K	-	2	0	PROS1	95107320	0.836000	0.29430	0.999000	0.59377	0.435000	0.31806	-0.329000	0.07935	0.003000	0.14656	-0.425000	0.05940	AAA		0.303	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		18	32	0	0	0	0.006122	0	18	32					A	93624630	T	A	93624630	3	1	284	1	0	0	0	0	1	0	0	0	12558	1841	64	5	1471	5	PROS1	3	93624630	Missense_Mutation	SNP	T	TCGA-EM-A22L-01A-11D-A17V-08		93624630	104397800	3	6120											
GPR87	53836	broad.mit.edu	37	chr3	151012084	151012084	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgaaaatgacctacacAtgaaaaagtaaattattgga	6	5	1	3			TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr3:151012084A>G	ENST00000260843.4	-	3	1414	c.950T>C	c.(949-951)aTg>aCg	p.M317T	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	317					negative regulation of adenylate cyclase activity (GO:0007194)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGACCTACACATGAAAAAGTA	0.358																																						ENST00000260843.4																			0				endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19						c.(949-951)aTg>aCg		G protein-coupled receptor 87							123	126	125					3																	151012084		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:151012084A>G	AF237763	CCDS3157.1	3q24	2012-08-21			ENSG00000138271	ENSG00000138271		"GPCR / Class A : Orphans"	4538	protein-coding gene	gene with protein product		606379		GPR95		11273702	Standard	NM_023915		Approved		uc003eyt.2	Q9BY21	OTTHUMG00000159858	ENST00000260843.4:c.950T>C	3.37:g.151012084A>G	ENSP00000260843:p.Met317Thr					MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron	p.M317T	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	1414	-			317					Q5KU35|Q96JZ8|Q9BXC2	Missense_Mutation	SNP	ENST00000260843.4	37	c.950T>C	CCDS3157.1	.	.	.	.	.	.	.	.	.	.	A	17.56	3.419219	0.62622	.	.	ENSG00000138271	ENST00000260843	T	0.20332	2.08	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.10208	0.0250	N	0.08118	0	0.50171	D	0.999853	P	0.34546	0.456	B	0.27887	0.084	T	0.18023	-1.0350	10	0.44086	T	0.13	-23.2662	11.4026	0.49878	0.9269:0.0:0.0731:0.0	.	317	Q9BY21	GPR87_HUMAN	T	317	ENSP00000260843:M317T	ENSP00000260843:M317T	M	-	2	0	GPR87	152494774	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.105000	0.77031	2.109000	0.64355	0.533000	0.62120	ATG		0.358	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357788.1			53	58	0	0	0	0.00361	0	53	58					G	151012084	A	G	151012084	3	3	284	1	0	0	0	0	1	0	0	0	6716	217	8	3	130	3	GPR87	3	151012084	Missense_Mutation	SNP	A	TCGA-EM-A22L-01A-11D-A17V-08	57387454	151012084	47010346	4	6121											
ARID1B	57492	broad.mit.edu	37	chr6	157527496	157527496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgctgaatgtattgatgacGacgaggaagacgaggaggat	15	4	0	4			TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr6:157527496G>A	ENST00000350026.5	+	19	5183	c.5182G>A	c.(5182-5184)Gac>Aac	p.D1728N	ARID1B_ENST00000275248.4_Missense_Mutation_p.D1723N|ARID1B_ENST00000367148.1_Missense_Mutation_p.D1781N|ARID1B_ENST00000346085.5_Missense_Mutation_p.D1741N	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1728					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TATTGATGACGACGAGGAAGA	0.537																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(5221-5223)Gac>Aac		AT rich interactive domain 1B (SWI1-like)							130	135	133					6																	157527496		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157527496G>A	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.5182G>A	6.37:g.157527496G>A	ENSP00000055163:p.Asp1728Asn					ARID1B_ENST00000367148.1_Missense_Mutation_p.D1781N|ARID1B_ENST00000350026.5_Missense_Mutation_p.D1728N|ARID1B_ENST00000275248.4_Missense_Mutation_p.D1723N	p.D1741N	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	20	5222	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1728					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.5221G>A	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	G	9.337	1.062114	0.19987	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.02050	4.8;4.8;4.81;4.81;4.48	5.16	5.16	0.70880	Armadillo-like helical (1);	0.341002	0.21369	U	0.075671	T	0.00552	0.0018	N	0.08118	0	0.28409	N	0.918294	B;B;B	0.28378	0.133;0.209;0.209	B;B;B	0.24269	0.023;0.052;0.052	T	0.50118	-0.8865	10	0.17832	T	0.49	.	13.5352	0.61643	0.0:0.0:0.8043:0.1957	.	1728;1741;1723	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	N	1741;1728;1781;1723;1250	ENSP00000344546:D1741N;ENSP00000055163:D1728N;ENSP00000356116:D1781N;ENSP00000275248:D1723N;ENSP00000412835:D1250N	ENSP00000275248:D1723N	D	+	1	0	ARID1B	157569188	1.000000	0.71417	0.096000	0.21009	0.539000	0.34962	3.858000	0.55979	2.394000	0.81467	0.467000	0.42956	GAC		0.537	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		7	181	0	0	0	0.001984	0	7	181					A	157527496	G	A	157527496	3	1	284	1	0	0	0	0	1	0	0	0	914	1058	37	1	5299	1	ARID1B	6	157527496	Missense_Mutation	SNP	G	TCGA-EM-A22L-01A-11D-A17V-08		157527496	13587571	5	6122											
STAG3	10734	broad.mit.edu	37	chr7	99796515	99796515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgggtggaagagagcaaCgccagagcccaggcgcccag	16	11	0	3	rs539912996		TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr7:99796515C>T	ENST00000426455.1	+	14	1809	c.1402C>T	c.(1402-1404)Cgc>Tgc	p.R468C	STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000394018.2_Missense_Mutation_p.R410C|GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Missense_Mutation_p.R468C	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	468					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)		p.R468C(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AAGAGAGCAACGCCAGAGCCC	0.537													C|||	1	0.000199681	0	0	5008	,	,		16772	0		0.001	False		,,,				2504	0					ENST00000426455.1																			1	Substitution - Missense(1)	p.R468C(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66						c.(1402-1404)Cgc>Tgc		stromal antigen 3							114	114	114					7																	99796515		2203	4300	6503	SO:0001583	missense	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99796515C>T	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.1402C>T	7.37:g.99796515C>T	ENSP00000400359:p.Arg468Cys					STAG3_ENST00000317296.5_Missense_Mutation_p.R468C|STAG3_ENST00000394018.2_Missense_Mutation_p.R410C|STAG3_ENST00000440830.1_3'UTR	p.R468C			Q9UJ98	STAG3_HUMAN			14	1809	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		468					A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	c.1402C>T	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	.	12.04	1.818867	0.32145	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000339784;ENST00000317296	T;T;T	0.25749	1.78;1.8;1.78	5.75	4.87	0.63330	Armadillo-type fold (1);	1.147120	0.06612	N	0.755773	T	0.37598	0.1009	M	0.67397	2.05	0.09310	N	0.999999	D;B	0.65815	0.995;0.1	P;B	0.48677	0.586;0.042	T	0.24870	-1.0148	10	0.87932	D	0	-0.7305	7.782	0.29070	0.1609:0.7572:0.0:0.0819	.	410;468	B4DZ10;Q9UJ98	.;STAG3_HUMAN	C	468;410;426;468	ENSP00000400359:R468C;ENSP00000377586:R410C;ENSP00000319318:R468C	ENSP00000319318:R468C	R	+	1	0	STAG3	99634451	0.441000	0.25626	0.508000	0.27688	0.212000	0.24457	2.315000	0.43752	1.572000	0.49736	0.650000	0.86243	CGC		0.537	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		35	65	0	0	0	0.003755	0	35	65					T	99796515	C	T	99796515	3	4	284	1	0	0	0	0	1	0	0	0	15243	536	19	1	1452	1	STAG3	7	99796515	Missense_Mutation	SNP	C	TCGA-EM-A22L-01A-11D-A17V-08		99796515	59342148	6	6123											
OR5T2	219464	broad.mit.edu	37	chr11	56000018	56000018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggatatcacaaaagacaCgcctaatttcattggctcca	8	10	2	1	rs199817172		TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr11:56000018C>T	ENST00000313264.4	-	1	719	c.644G>A	c.(643-645)cGt>cAt	p.R215H		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	215						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					ACAAAAGACACGCCTAATTTC	0.433																																						ENST00000313264.4																			0				endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41						c.(643-645)cGt>cAt		olfactory receptor, family 5, subfamily T, member 2							170	153	159					11																	56000018		2201	4296	6497	SO:0001583	missense	219464				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56000018C>T	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"GPCR / Class A : Olfactory receptors"	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.644G>A	11.37:g.56000018C>T	ENSP00000323688:p.Arg215His						p.R215H	NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN			1	719	-	Esophageal squamous(21;0.00448)		215					B9EGX5|Q6IFC8	Missense_Mutation	SNP	ENST00000313264.4	37	c.644G>A	CCDS31523.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.919518	0.00498	.	.	ENSG00000181718	ENST00000313264	T	0.00032	8.88	5.07	2.72	0.32119	GPCR, rhodopsin-like superfamily (1);	0.161250	0.28760	N	0.014224	T	0.00012	0.0000	N	0.00000	-3.915	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.50684	-0.8799	10	0.02654	T	1	.	9.4138	0.38507	0.0:0.1492:0.0:0.8508	.	215	Q8NGG2	OR5T2_HUMAN	H	215	ENSP00000323688:R215H	ENSP00000323688:R215H	R	-	2	0	OR5T2	55756594	0.597000	0.26874	0.001000	0.08648	0.001000	0.01503	1.700000	0.37815	0.354000	0.24105	-0.491000	0.04670	CGT		0.433	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		7	112	0	0	0	0.001984	0	7	112					T	56000018	C	T	56000018	3	4	284	1	0	0	0	0	1	0	0	0	11182	536	19	1	434	1	OR5T2	11	56000018	Missense_Mutation	SNP	C	TCGA-EM-A22L-01A-11D-A17V-08		56000018	79006498	7	6124											
VWF	7450	broad.mit.edu	37	chr12	6105204	6105204	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctcgacggagagggcactGtgcttcacctcgatggattt	13	10	1	1			TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr12:6105204G>T	ENST00000261405.5	-	35	6281	c.6027C>A	c.(6025-6027)caC>caA	p.H2009Q		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2009	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)	AGAGGGCACTGTGCTTCACCT	0.522																																						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.(6025-6027)caC>caA		von Willebrand factor	Antihemophilic Factor(DB00025)						54	45	48					12																	6105204		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.chr12:6105204G>T		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.6027C>A	12.37:g.6105204G>T	ENSP00000261405:p.His2009Gln						p.H2009Q	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			35	6281	-			2009			VWFD 4.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.6027C>A	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	G	7.105	0.574863	0.13623	.	.	ENSG00000110799	ENST00000261405	T	0.59364	0.27	5.55	-7.19	0.01500	von Willebrand factor, type D domain (3);	0.000000	0.42294	D	0.000738	T	0.45756	0.1358	M	0.63843	1.955	0.42200	D	0.991767	B	0.28419	0.211	B	0.30029	0.11	T	0.12041	-1.0563	10	0.36615	T	0.2	.	10.8582	0.46810	0.4259:0.0943:0.4798:0.0	.	2009	P04275	VWF_HUMAN	Q	2009	ENSP00000261405:H2009Q	ENSP00000261405:H2009Q	H	-	3	2	VWF	5975465	0.000000	0.05858	0.002000	0.10522	0.066000	0.16364	-1.877000	0.01631	-1.305000	0.02327	-0.136000	0.14681	CAC		0.522	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		19	26	1	0	6.94344e-10	0.006122	1.19352e-08	19	26					T	6105204	G	T	6105204	3	4	284	1	0	0	0	0	1	0	0	0	17243	1368	48	4	2486	4	VWF	12	6105204	Missense_Mutation	SNP	G	TCGA-EM-A22L-01A-11D-A17V-08		6105204	127746691	8	6125											
SCEL	8796	broad.mit.edu	37	chr13	78176241	78176241	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gattaaagttaatcaaaggaCtgacaaaaatgagaaagggt	10	3	1	2			TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr13:78176241C>G	ENST00000349847.3	+	16	1043	c.959C>G	c.(958-960)aCt>aGt	p.T320S	SCEL-AS1_ENST00000456280.2_RNA|SCEL_ENST00000469982.1_3'UTR|SCEL-AS1_ENST00000457528.2_RNA|SCEL_ENST00000535157.1_Missense_Mutation_p.T298S|SCEL_ENST00000377246.3_Missense_Mutation_p.T300S	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	320	16 X approximate tandem repeats.				embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		AATCAAAGGACTGACAAAAAT	0.393																																						ENST00000535157.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40						c.(892-894)aCt>aGt		sciellin							99	98	98					13																	78176241		2203	4300	6503	SO:0001583	missense	8796				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding	g.chr13:78176241C>G	AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.959C>G	13.37:g.78176241C>G	ENSP00000302579:p.Thr320Ser					SCEL-AS1_ENST00000456280.2_RNA|SCEL_ENST00000377246.3_Missense_Mutation_p.T300S|SCEL_ENST00000349847.3_Missense_Mutation_p.T320S|SCEL_ENST00000469982.1_3'UTR|SCEL-AS1_ENST00000457528.2_RNA	p.T298S	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN		GBM - Glioblastoma multiforme(99;0.0233)	15	1063	+		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)	320			16 X approximate tandem repeats.		B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	ENST00000349847.3	37	c.893C>G	CCDS9459.1	.	.	.	.	.	.	.	.	.	.	C	7.116	0.576952	0.13686	.	.	ENSG00000136155	ENST00000348770;ENST00000535157;ENST00000377246;ENST00000349847	T;T;T	0.22134	1.97;1.97;1.97	3.95	3.09	0.35607	.	0.915980	0.09168	N	0.839296	T	0.21062	0.0507	M	0.68593	2.085	0.09310	N	1	P;P;P	0.43662	0.459;0.814;0.649	B;B;B	0.39840	0.225;0.287;0.311	T	0.09618	-1.0666	10	0.07644	T	0.81	-0.5847	9.1287	0.36833	0.2168:0.7832:0.0:0.0	.	298;300;320	F5H651;O95171-2;O95171	.;.;SCEL_HUMAN	S	277;298;300;320	ENSP00000437895:T298S;ENSP00000366454:T300S;ENSP00000302579:T320S	ENSP00000315127:T277S	T	+	2	0	SCEL	77074242	0.002000	0.14202	0.027000	0.17364	0.005000	0.04900	0.173000	0.16724	0.997000	0.38969	0.591000	0.81541	ACT		0.393	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2	NM_144777		7	29	0	0	0	0.00308	0	7	29					G	78176241	C	G	78176241	3	3	284	1	0	0	0	0	1	0	0	0	13888	565	20	4	1017	4	SCEL	13	78176241	Missense_Mutation	SNP	C	TCGA-EM-A22L-01A-11D-A17V-08		78176241	36993637	9	6126											
PIGS	94005	broad.mit.edu	37	chr17	26882008	26882008	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtctagctcccaggtcattAgcccttcactcgtaggccct	9	15	3	0			TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr17:26882008A>G	ENST00000308360.7	-	11	1628	c.1253T>C	c.(1252-1254)cTa>cCa	p.L418P	UNC119_ENST00000335765.4_5'Flank|PIGS_ENST00000395346.2_Missense_Mutation_p.L410P|PIGS_ENST00000543734.1_Missense_Mutation_p.L357P|UNC119_ENST00000301032.4_5'Flank	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	418					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CCAGGTCATTAGCCCTTCACT	0.587																																						ENST00000308360.7																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1252-1254)cTa>cCa		phosphatidylinositol glycan anchor biosynthesis, class S							72	61	65					17																	26882008		2203	4300	6503	SO:0001583	missense	94005				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr17:26882008A>G		CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"Phosphatidylinositol glycan anchor biosynthesis"	14937	protein-coding gene	gene with protein product	"GPI transamidase subunit"	610271	"phosphatidylinositol glycan, class S"				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.1253T>C	17.37:g.26882008A>G	ENSP00000309430:p.Leu418Pro					PIGS_ENST00000543734.1_Missense_Mutation_p.L357P|PIGS_ENST00000395346.2_Missense_Mutation_p.L410P	p.L418P	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN			11	1628	-	Lung NSC(42;0.00431)		418					Q6UVX6	Missense_Mutation	SNP	ENST00000308360.7	37	c.1253T>C	CCDS11235.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.2|23.2	4.381622|4.381622	0.82792|0.82792	.|.	.|.	ENSG00000087111|ENSG00000087111	ENST00000395346;ENST00000308360;ENST00000543734|ENST00000268758	T;T;T|.	0.47528|.	0.84;0.84;0.84|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.072613|.	0.56097|.	D|.	0.000023|.	T|.	0.69061|.	0.3069|.	L|L	0.53617|0.53617	1.68|1.68	0.80722|0.80722	D|D	1|1	D;D|.	0.69078|.	0.997;0.996|.	D;D|.	0.68353|.	0.957;0.929|.	T|.	0.67452|.	-0.5667|.	10|.	0.33141|.	T|.	0.24|.	-4.5671|-4.5671	15.4623|15.4623	0.75369|0.75369	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	418;410|.	Q96S52;Q96S52-2|.	PIGS_HUMAN;.|.	P|Q	410;418;357|160	ENSP00000378755:L410P;ENSP00000309430:L418P;ENSP00000438447:L357P|.	ENSP00000309430:L418P|.	L|X	-|-	2|1	0|0	PIGS|PIGS	23906135|23906135	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.954000|0.954000	0.61252|0.61252	8.962000|8.962000	0.93254|0.93254	2.053000|2.053000	0.61076|0.61076	0.379000|0.379000	0.24179|0.24179	CTA|TAA		0.587	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255833.3	NM_033198		3	54	0	0	0	0.004672	0	3	54					G	26882008	A	G	26882008	3	3	284	1	0	0	0	0	1	0	0	0	11898	420	15	3	422	3	PIGS	17	26882008	Missense_Mutation	SNP	A	TCGA-EM-A22L-01A-11D-A17V-08		26882008	54313202	10	6127											
TTF2	8458	broad.mit.edu	37	chr1	117624468	117624468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcagatgatatgggcttagGaaaaaccctgacaatgattg	11	6	0	4			TCGA-EM-A22M-01A-11D-A17V-08	TCGA-EM-A22M-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29f3295-8971-49b9-8398-b0e1f4912e2f	9f98823f-1528-433c-9aa7-cfdbb6732bd1	g.chr1:117624468G>A	ENST00000369466.4	+	10	1846	c.1802G>A	c.(1801-1803)gGa>gAa	p.G601E		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	601	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)		ATGGGCTTAGGAAAAACCCTG	0.403																																						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.(1801-1803)gGa>gAa		transcription termination factor, RNA polymerase II							100	99	99					1																	117624468		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.chr1:117624468G>A	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.1802G>A	1.37:g.117624468G>A	ENSP00000358478:p.Gly601Glu						p.G601E	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)	10	1846	+	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)	601			Helicase ATP-binding.		A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	ENST00000369466.4	37	c.1802G>A	CCDS892.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.692981	0.88735	.	.	ENSG00000116830	ENST00000369466	D	0.99940	-8.38	5.66	5.66	0.87406	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.36409	N	0.002611	D	0.99966	0.9987	H	0.99391	4.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96637	0.9471	10	0.87932	D	0	-20.1635	15.2416	0.73474	0.0:0.0:1.0:0.0	.	601;601	Q9UNY4;Q9UNY4-2	TTF2_HUMAN;.	E	601	ENSP00000358478:G601E	ENSP00000358478:G601E	G	+	2	0	TTF2	117425991	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.757000	0.91657	2.668000	0.90789	0.561000	0.74099	GGA		0.403	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3			17	34	0	0	0	0.00074312	0	17	34					A	117624468	G	A	117624468	3	1	285	1	0	0	0	0	1	0	0	0	16716	1174	41	2	1840	2	TTF2	1	117624468	Missense_Mutation	SNP	G	TCGA-EM-A22M-01A-11D-A17V-08		117624468	131626153	1	6128											
MTR	4548	broad.mit.edu	37	chr1	237015822	237015822	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attttaaaatttttgccaggAaacattacctggagccagaa	7	7	0	1			TCGA-EM-A22M-01A-11D-A17V-08	TCGA-EM-A22M-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29f3295-8971-49b9-8398-b0e1f4912e2f	9f98823f-1528-433c-9aa7-cfdbb6732bd1	g.chr1:237015822A>T	ENST00000366577.5	+	17	2091	c.1697A>T	c.(1696-1698)gAa>gTa	p.E566V	MTR_ENST00000535889.1_Splice_Site_p.E566V	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	566	Pterin-binding. {ECO:0000255|PROSITE- ProRule:PRU00334}.				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)	TTTTGCCAGGAAACATTACCT	0.383																																						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.e17-1		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						58	62	61					1																	237015822		2203	4300	6503	SO:0001630	splice_region_variant	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237015822A>T	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.1696-1A>T	1.37:g.237015822A>T						MTR_ENST00000535889.1_Splice_Site_p.E566_splice	p.E566_splice	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)	17	2091	+	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)	566			Pterin-binding.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Splice_Site	SNP	ENST00000366577.5	37	c.1695_splice	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	A	18.79	3.698826	0.68501	.	.	ENSG00000116984	ENST00000366577;ENST00000535889;ENST00000366576	D;D;D	0.87491	-2.26;-2.26;-2.26	5.45	4.27	0.50696	Dihydropteroate synthase-like (1);Pterin-binding (3);	0.171164	0.48767	D	0.000165	D	0.90553	0.7039	M	0.87682	2.9	0.44409	D	0.997324	P;B	0.38767	0.646;0.418	P;P	0.45794	0.493;0.493	D	0.92044	0.5643	10	0.72032	D	0.01	-22.4218	12.7476	0.57289	0.8635:0.1365:0.0:0.0	.	566;566	B7ZLW7;Q99707	.;METH_HUMAN	V	566;566;120	ENSP00000355536:E566V;ENSP00000441845:E566V;ENSP00000355535:E120V	ENSP00000355535:E120V	E	+	2	0	MTR	235082445	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	3.881000	0.56152	2.289000	0.77006	0.533000	0.62120	GAA		0.383	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254	Missense_Mutation	5	48	0	0	0	0.000602214	0	5	48					T	237015822	A	T	237015822	5	4	285	1	0	0	0	0	0	0	1	0	9958	260	9	5	1763	5	MTR	1	237015822	Splice_Site	SNP	A	TCGA-EM-A22M-01A-11D-A17V-08	119391354	237015822	12234799	2	6129											
GRXCR1	389207	broad.mit.edu	37	chr4	42895497	42895497	+	Frame_Shift_Del	DEL	G	G	-													acatagagtcagaaggtgatGagaatgagaatgaccaggat							TCGA-EM-A22M-01A-11D-A17V-08	TCGA-EM-A22M-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29f3295-8971-49b9-8398-b0e1f4912e2f	9f98823f-1528-433c-9aa7-cfdbb6732bd1	g.chr4:42895497delG	ENST00000399770.2	+	1	214	c.214delG	c.(214-216)gagfs	p.E72fs	RN7SKP82_ENST00000516786.1_RNA	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	72					auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						AGAAGGTGATGAGAATGAGAA	0.468																																						ENST00000399770.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						c.(214-216)agfs		glutaredoxin, cysteine rich 1							159	167	165					4																	42895497		2053	4204	6257	SO:0001589	frameshift_variant	389207				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	g.chr4:42895497delG		CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 88"	613283	"deafness, autosomal recessive 25"	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.214delG	4.37:g.42895497delG	ENSP00000382670:p.Glu72fs						p.E72fs	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN			1	214	+			72						Frame_Shift_Del	DEL	ENST00000399770.2	37	c.214delG	CCDS43225.1																																																																																				0.468	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476		29	113						29	113	---	---	---	---	-	42895497	G	-	42895497	7	5	285	1	0	1	0	1	0	0	0	0	6812	1291	45	0	216	0	GRXCR1	4	42895497	Frame_Shift_Del	DEL	G	TCGA-EM-A22M-01A-11D-A17V-08		42895497	148258779	3	6130											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A22M-01A-11D-A17V-08	TCGA-EM-A22M-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29f3295-8971-49b9-8398-b0e1f4912e2f	9f98823f-1528-433c-9aa7-cfdbb6732bd1	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		13	40	0	0	0	0.00244969	0	13	40					T	140453136	A	T	140453136	3	4	285	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A22M-01A-11D-A17V-08		140453136	18685527	4	6131											
DKFZp761E198	91056	broad.mit.edu	37	chr11	65547117	65547117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagctgggcctgggccacagGagtgagcagataggaggtgt	19	7	0	2			TCGA-EM-A22M-01A-11D-A17V-08	TCGA-EM-A22M-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29f3295-8971-49b9-8398-b0e1f4912e2f	9f98823f-1528-433c-9aa7-cfdbb6732bd1	g.chr11:65547117G>A	ENST00000532090.2	-	2	1057	c.847C>T	c.(847-849)Cct>Tct	p.P283S		NM_138368.4	NP_612377.4	Q2VPB7	AP5B1_HUMAN	adaptor-related protein complex 5, beta 1 subunit	283	Leu-rich.				endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|lysosomal membrane (GO:0005765)				lung(1)	1						TGGGCCACAGGAGTGAGCAGA	0.682																																						ENST00000532090.2																			0				lung(1)	1						c.(847-849)Cct>Tct		adaptor-related protein complex 5, beta 1 subunit							27	33	31					11																	65547117		1992	4166	6158	SO:0001583	missense	91056						protein binding	g.chr11:65547117G>A	JQ313135	CCDS58146.1	11q13.1	2012-02-29			ENSG00000254470	ENSG00000254470			25104	protein-coding gene	gene with protein product		614367				22022230	Standard	NM_138368		Approved	PP1030, AP-5, DKFZp761E198	uc031qbm.1	Q2VPB7	OTTHUMG00000166593	ENST00000532090.2:c.847C>T	11.37:g.65547117G>A	ENSP00000454303:p.Pro283Ser						p.P283S	NM_138368.4	NP_612377.4	Q2VPB7	YK046_HUMAN			2	1057	-			226			Leu-rich.		A1L0S6|H6WUK2|Q0D2Q2|Q8N3J7|Q8WYH6	Missense_Mutation	SNP	ENST00000532090.2	37	c.847C>T	CCDS58146.1																																																																																				0.682	AP5B1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390636.2	NM_138368		9	30	0	0	0	0.000274275	0	9	30					A	65547117	G	A	65547117	3	1	285	1	0	0	0	0	1	0	0	0	4543	1174	41	2	1793	2	DKFZp761E198	11	65547117	Missense_Mutation	SNP	G	TCGA-EM-A22M-01A-11D-A17V-08		65547117	69459399	5	6132											
DYNC2H1	79659	broad.mit.edu	37	chr11	102991301	102991301	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcctgtgcaatataatccAtatactgaggttgtatatat	6	6	0	1			TCGA-EM-A22M-01A-11D-A17V-08	TCGA-EM-A22M-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29f3295-8971-49b9-8398-b0e1f4912e2f	9f98823f-1528-433c-9aa7-cfdbb6732bd1	g.chr11:102991301A>G	ENST00000375735.2	+	7	1269	c.1125A>G	c.(1123-1125)ccA>ccG	p.P375P	DYNC2H1_ENST00000334267.7_Silent_p.P375P|DYNC2H1_ENST00000398093.3_Silent_p.P375P	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	375	Stem. {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)		AATATAATCCATATACTGAGG	0.318																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(1123-1125)ccA>ccG		dynein, cytoplasmic 2, heavy chain 1							163	170	168					11																	102991301		1835	4074	5909	SO:0001819	synonymous_variant	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.chr11:102991301A>G	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.1125A>G	11.37:g.102991301A>G						DYNC2H1_ENST00000398093.3_Silent_p.P375P|DYNC2H1_ENST00000334267.7_Silent_p.P375P	p.P375P	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)	7	1269	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	375			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	ENST00000375735.2	37	c.1125A>G	CCDS53701.1																																																																																				0.318	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		41	215	0	0	0	0.00170553	0	41	215					G	102991301	A	G	102991301	2	3	285	1	0	0	0	0	0	0	0	1	4846	204	8	3		3	DYNC2H1	11	102991301	Silent	SNP	A	TCGA-EM-A22M-01A-11D-A17V-08	37444184	102991301	32015215	6	6133											
TTC12	54970	broad.mit.edu	37	chr11	113215033	113215033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgatacaccatgacagggCcaggctgttggccgccctct	12	13	1	2			TCGA-EM-A22M-01A-11D-A17V-08	TCGA-EM-A22M-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29f3295-8971-49b9-8398-b0e1f4912e2f	9f98823f-1528-433c-9aa7-cfdbb6732bd1	g.chr11:113215033C>T	ENST00000529221.1	+	13	1130	c.1025C>T	c.(1024-1026)gCc>gTc	p.A342V	TTC12_ENST00000314756.3_Missense_Mutation_p.A342V|TTC12_ENST00000478125.1_3'UTR|TTC12_ENST00000483239.2_Missense_Mutation_p.A348V|TTC12_ENST00000393020.1_Missense_Mutation_p.A342V	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	342										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		CATGACAGGGCCAGGCTGTTG	0.567																																						ENST00000393020.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1024-1026)gCc>gTc		tetratricopeptide repeat domain 12							142	115	124					11																	113215033		2201	4296	6497	SO:0001583	missense	54970						binding	g.chr11:113215033C>T	AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"Tetratricopeptide (TTC) repeat domain containing"	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.1025C>T	11.37:g.113215033C>T	ENSP00000433757:p.Ala342Val					TTC12_ENST00000483239.2_Missense_Mutation_p.A348V|TTC12_ENST00000529221.1_Missense_Mutation_p.A342V|TTC12_ENST00000478125.1_3'UTR|TTC12_ENST00000314756.3_Missense_Mutation_p.A342V	p.A342V			Q9H892	TTC12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)	13	1430	+		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)	342					Q8N5H9|Q9NWY3	Missense_Mutation	SNP	ENST00000529221.1	37	c.1025C>T	CCDS8360.2	.	.	.	.	.	.	.	.	.	.	C	2.004	-0.428741	0.04701	.	.	ENSG00000149292	ENST00000529221;ENST00000314756;ENST00000393020;ENST00000483239	T;T;T;T	0.39056	1.1;1.1;1.1;1.1	5.41	-0.656	0.11436	Armadillo-like helical (1);Armadillo-type fold (1);	5.887100	0.00913	U	0.002498	T	0.35068	0.0919	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.37753	-0.9692	10	0.49607	T	0.09	-3.224	10.8594	0.46819	0.1176:0.6139:0.2686:0.0	.	342;342	A8K8G6;Q9H892	.;TTC12_HUMAN	V	342;342;342;348	ENSP00000433757:A342V;ENSP00000315160:A342V;ENSP00000376743:A342V;ENSP00000419652:A348V	ENSP00000315160:A342V	A	+	2	0	TTC12	112720243	0.019000	0.18553	0.001000	0.08648	0.001000	0.01503	0.464000	0.21988	-0.024000	0.13941	-0.951000	0.02657	GCC		0.567	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	NM_017868		35	66	0	0	0	0.000692331	0	35	66					T	113215033	C	T	113215033	3	4	285	1	0	0	0	0	1	0	0	0	16676	739	26	2	1071	2	TTC12	11	113215033	Missense_Mutation	SNP	C	TCGA-EM-A22M-01A-11D-A17V-08	10223732	113215033	21791483	7	6134											
PVRL1	5818	broad.mit.edu	37	chr11	119547852	119547852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctggggggttagcatcagCtttgcaggtgagcttcacgt	16	8	2	1			TCGA-EM-A22M-01A-11D-A17V-08	TCGA-EM-A22M-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29f3295-8971-49b9-8398-b0e1f4912e2f	9f98823f-1528-433c-9aa7-cfdbb6732bd1	g.chr11:119547852C>T	ENST00000264025.3	-	4	1341	c.811G>A	c.(811-813)Gct>Act	p.A271T	PVRL1_ENST00000340882.2_Missense_Mutation_p.A271T|PVRL1_ENST00000341398.2_Missense_Mutation_p.A271T|PVRL1_ENST00000524510.1_5'UTR	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	271	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		TTAGCATCAGCTTTGCAGGTG	0.562																																						ENST00000264025.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(811-813)Gct>Act		poliovirus receptor-related 1 (herpesvirus entry mediator C)							119	86	97					11																	119547852		2199	4295	6494	SO:0001583	missense	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119547852C>T	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9706	protein-coding gene	gene with protein product	"nectin"	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.811G>A	11.37:g.119547852C>T	ENSP00000264025:p.Ala271Thr					PVRL1_ENST00000341398.2_Missense_Mutation_p.A271T|PVRL1_ENST00000340882.2_Missense_Mutation_p.A271T|PVRL1_ENST00000524510.1_5'UTR	p.A271T	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	4	1341	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	271			Ig-like C2-type 2.		O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	ENST00000264025.3	37	c.811G>A	CCDS8426.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831345	0.71258	.	.	ENSG00000110400	ENST00000341398;ENST00000264025;ENST00000340882	T;T;T	0.15603	2.41;2.41;2.41	5.67	4.69	0.59074	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.156225	0.56097	D	0.000025	T	0.25606	0.0623	M	0.75615	2.305	0.45791	D	0.998676	P;P;P	0.52577	0.686;0.942;0.954	B;P;B	0.44623	0.205;0.455;0.4	T	0.04178	-1.0971	10	0.72032	D	0.01	.	13.1023	0.59226	0.2195:0.7805:0.0:0.0	.	271;271;271	Q15223-3;Q15223;Q15223-2	.;PVRL1_HUMAN;.	T	271	ENSP00000344974:A271T;ENSP00000264025:A271T;ENSP00000345289:A271T	ENSP00000264025:A271T	A	-	1	0	PVRL1	119053062	1.000000	0.71417	0.997000	0.53966	0.945000	0.59286	3.832000	0.55783	2.686000	0.91538	0.655000	0.94253	GCT		0.562	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1			5	54	0	0	0	0.00116845	0	5	54					T	119547852	C	T	119547852	3	4	285	1	0	0	0	0	1	0	0	0	12839	797	28	2	1200	2	PVRL1	11	119547852	Missense_Mutation	SNP	C	TCGA-EM-A22M-01A-11D-A17V-08	6332819	119547852	15458664	8	6135											
OR10A7	121364	broad.mit.edu	37	chr12	55614871	55614871	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggttttacaaacaacccCgagatgcaagtttccctctt	6	12	1	1	rs369421690		TCGA-EM-A22M-01A-11D-A17V-08	TCGA-EM-A22M-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29f3295-8971-49b9-8398-b0e1f4912e2f	9f98823f-1528-433c-9aa7-cfdbb6732bd1	g.chr12:55614871C>T	ENST00000326258.1	+	1	63	c.63C>T	c.(61-63)ccC>ccT	p.P21P		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CAAACAACCCCGAGATGCAAG	0.373																																						ENST00000326258.1																			0				endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						c.(61-63)ccC>ccT		olfactory receptor, family 10, subfamily A, member 7		C		0,4406		0,0,2203	198	206	203		63	-3.0	0.0	12		203	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR10A7	NM_001005280.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		21/317	55614871	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55614871C>T	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"GPCR / Class A : Olfactory receptors"	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.63C>T	12.37:g.55614871C>T							p.P21P	NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN			1	63	+			21					Q6IFD5|Q96R19	Silent	SNP	ENST00000326258.1	37	c.63C>T	CCDS31815.1																																																																																				0.373	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			5	134	0	0	0	0.000602214	0	5	134					T	55614871	C	T	55614871	2	4	285	1	0	0	0	0	0	0	0	1	10895	639	23	1		1	OR10A7	12	55614871	Silent	SNP	C	TCGA-EM-A22M-01A-11D-A17V-08		55614871	78237024	9	6136											
FAM155A	728215	broad.mit.edu	37	chr13	108518740	108518740	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgctgctggtgctccttgtCccgggcccgggtcagcttgg	15	14	1	0			TCGA-EM-A22M-01A-11D-A17V-08	TCGA-EM-A22M-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29f3295-8971-49b9-8398-b0e1f4912e2f	9f98823f-1528-433c-9aa7-cfdbb6732bd1	g.chr13:108518740C>T	ENST00000375915.2	-	1	343	c.205G>A	c.(205-207)Gac>Aac	p.D69N		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	69						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						tgctCCTTGTCCCGGGCCCGG	0.637																																						ENST00000375915.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(205-207)Gac>Aac		family with sequence similarity 155, member A							40	48	46					13																	108518740		2203	4300	6503	SO:0001583	missense	728215					integral to membrane	binding	g.chr13:108518740C>T	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.205G>A	13.37:g.108518740C>T	ENSP00000365080:p.Asp69Asn						p.D69N	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			1	343	-			69					B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.205G>A	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179868	0.57800	.	.	ENSG00000204442	ENST00000375915	T	0.42131	0.98	5.13	4.28	0.50868	.	0.124217	0.50627	D	0.000111	T	0.48554	0.1506	L	0.34521	1.04	0.42680	D	0.993541	D	0.63880	0.993	D	0.66497	0.944	T	0.33650	-0.9860	10	0.18710	T	0.47	.	13.6828	0.62496	0.1558:0.8442:0.0:0.0	.	69	B1AL88	F155A_HUMAN	N	69	ENSP00000365080:D69N	ENSP00000365080:D69N	D	-	1	0	FAM155A	107316741	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.205000	0.65186	1.139000	0.42245	-0.188000	0.12872	GAC		0.637	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		19	35	0	0	0	0.00121646	0	19	35					T	108518740	C	T	108518740	3	4	285	1	0	0	0	0	1	0	0	0	5465	855	30	2	1183	2	FAM155A	13	108518740	Missense_Mutation	SNP	C	TCGA-EM-A22M-01A-11D-A17V-08		108518740	6651138	10	6137											
WHAMM	123720	broad.mit.edu	37	chr15	83485581	83485581	+	Frame_Shift_Del	DEL	A	A	-													aattattttaaggagacagtAaaagcattagcaggtgataa							TCGA-EM-A22M-01A-11D-A17V-08	TCGA-EM-A22M-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29f3295-8971-49b9-8398-b0e1f4912e2f	9f98823f-1528-433c-9aa7-cfdbb6732bd1	g.chr15:83485581delA	ENST00000286760.4	+	3	1020	c.921delA	c.(919-921)gtafs	p.V307fs		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	307	Mediates interaction with microtubules. {ECO:0000269|PubMed:23027905}.				actin filament organization (GO:0007015)|actin filament reorganization (GO:0090527)|ER to Golgi vesicle-mediated transport (GO:0006888)|focal adhesion assembly (GO:0048041)|lamellipodium assembly (GO:0030032)|membrane tubulation (GO:0097320)|positive regulation of actin nucleation (GO:0051127)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|Golgi membrane (GO:0000139)	Arp2/3 complex binding (GO:0071933)|GTP-Rho binding (GO:0017049)|microtubule binding (GO:0008017)			endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						AGGAGACAGTAAAAGCATTAG	0.363																																						ENST00000286760.4																			0				endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						c.(919-921)gtfs		WAS protein homolog associated with actin, golgi membranes and microtubules																																				SO:0001589	frameshift_variant	123720					cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	actin binding	g.chr15:83485581delA	AK126887	CCDS45333.1	15q25.2	2009-02-18	2009-02-18	2009-02-18	ENSG00000156232	ENSG00000156232			30493	protein-coding gene	gene with protein product		612393	"WAS protein homology region 2 domain containing 1"	WHDC1		11853319, 18226259, 18614018, 18812086	Standard	XM_005272422		Approved	KIAA1971	uc002bje.3	Q8TF30		ENST00000286760.4:c.921delA	15.37:g.83485581delA	ENSP00000286760:p.Val307fs						p.V307fs	NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN			3	1020	+			307					Q8N1J9	Frame_Shift_Del	DEL	ENST00000286760.4	37	c.921delA	CCDS45333.1																																																																																				0.363	WHAMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418463.1			2	4						2	4	---	---	---	---	-	83485581	A	-	83485581	7	5	285	1	0	1	0	1	0	0	0	0	17358	349	13	0	931	0	WHAMM	15	83485581	Frame_Shift_Del	DEL	A	TCGA-EM-A22M-01A-11D-A17V-08		83485581	19045811	11	6138											
ZNF629	23361	broad.mit.edu	37	chr16	30795747	30795747	+	Frame_Shift_Del	DEL	G	G	-													tcacctctgtgagcatcgttGgggctctgttccggaccctg							TCGA-EM-A22M-01A-11D-A17V-08	TCGA-EM-A22M-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29f3295-8971-49b9-8398-b0e1f4912e2f	9f98823f-1528-433c-9aa7-cfdbb6732bd1	g.chr16:30795747delG	ENST00000262525.4	-	2	264	c.57delC	c.(55-57)cccfs	p.P19fs		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	19					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GAGCATCGTTGGGGCTCTGTT	0.687																																						ENST00000262525.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22						c.(55-57)ccfs		zinc finger protein 629							24	26	26					16																	30795747		1890	4112	6002	SO:0001589	frameshift_variant	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30795747delG	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"Zinc fingers, C2H2-type"	29008	protein-coding gene	gene with protein product			"zinc finger protein 65"	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.57delC	16.37:g.30795747delG	ENSP00000262525:p.Pro19fs						p.P19fs	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		2	264	-			19					Q15938	Frame_Shift_Del	DEL	ENST00000262525.4	37	c.57delC	CCDS45463.1																																																																																				0.687	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		2	4						2	4	---	---	---	---	-	30795747	G	-	30795747	7	5	285	1	0	1	0	1	0	0	0	0	18050	1335	47	0	2560	0	ZNF629	16	30795747	Frame_Shift_Del	DEL	G	TCGA-EM-A22M-01A-11D-A17V-08		30795747	59559006	12	6139											
SALL3	27164	broad.mit.edu	37	chr18	76757214	76757214	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggatggacaaagcacgcacTggcagtagcccacccatcgt	12	13	0	0			TCGA-EM-A22M-01A-11D-A17V-08	TCGA-EM-A22M-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29f3295-8971-49b9-8398-b0e1f4912e2f	9f98823f-1528-433c-9aa7-cfdbb6732bd1	g.chr18:76757214T>C	ENST00000537592.2	+	3	3795	c.3795T>C	c.(3793-3795)acT>acC	p.T1265T	SALL3_ENST00000536229.3_Silent_p.T1060T|SALL3_ENST00000575389.2_Silent_p.T1193T	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1265					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|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(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		AAGCACGCACTGGCAGTAGCC	0.612																																						ENST00000536229.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(3178-3180)acT>acC		spalt-like transcription factor 3							132	130	130					18																	76757214		2203	4300	6503	SO:0001819	synonymous_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76757214T>C	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.3795T>C	18.37:g.76757214T>C						SALL3_ENST00000537592.2_Silent_p.T1265T|SALL3_ENST00000575389.2_Silent_p.T1193T	p.T1060T			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	3	3889	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	1265					Q9UGH1	Silent	SNP	ENST00000537592.2	37	c.3180T>C	CCDS12013.1																																																																																				0.612	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		6	161	0	0	0	0.00198382	0	6	161					C	76757214	T	C	76757214	2	2	285	1	0	0	0	0	0	0	0	1	13812	1567	55	3		3	SALL3	18	76757214	Silent	SNP	T	TCGA-EM-A22M-01A-11D-A17V-08		76757214	1320034	13	6140											
INSR	3643	broad.mit.edu	37	chr19	7122626	7122626	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcagaaagccagacgaaccTccaattttgacagtaaaatc	7	10	0	3			TCGA-EM-A22M-01A-11D-A17V-08	TCGA-EM-A22M-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29f3295-8971-49b9-8398-b0e1f4912e2f	9f98823f-1528-433c-9aa7-cfdbb6732bd1	g.chr19:7122626T>C	ENST00000302850.5	-	19	3670	c.3528A>G	c.(3526-3528)ggA>ggG	p.G1176G	INSR_ENST00000341500.5_Splice_Site_p.G1164G	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	1176	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	CAGACGAACCTCCAATTTTGA	0.463																																						ENST00000341500.5																			0				breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66						c.e18+1		insulin receptor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						81	80	80					19																	7122626		2203	4300	6503	SO:0001630	splice_region_variant	0				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7122626T>C	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"CD molecules", "Fibronectin type III domain containing"	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.3529+1A>G	19.37:g.7122626T>C						INSR_ENST00000302850.5_Splice_Site_p.G1176_splice	p.G1164_splice	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN			18	3531	-			1176			Protein kinase.		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Splice_Site	SNP	ENST00000302850.5	37	c.3493_splice	CCDS12176.1																																																																																				0.463	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1		Silent	3	100	0	0	0	6.4e-05	0	3	100					C	7122626	T	C	7122626	5	2	285	1	0	0	0	0	0	0	1	0	7773	1565	54	3	636	3	INSR	19	7122626	Splice_Site	SNP	T	TCGA-EM-A22M-01A-11D-A17V-08		7122626	52006357	14	6141											
ZNF559	84527	broad.mit.edu	37	chr19	9452862	9452862	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaattctatgaatgtaaagcAtgtgggaaacccttcactga	8	7	2	2			TCGA-EM-A22M-01A-11D-A17V-08	TCGA-EM-A22M-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29f3295-8971-49b9-8398-b0e1f4912e2f	9f98823f-1528-433c-9aa7-cfdbb6732bd1	g.chr19:9452862A>G	ENST00000393883.2	+	6	1383	c.735A>G	c.(733-735)gcA>gcG	p.A245A	ZNF559_ENST00000586255.1_Intron|CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000592896.1_3'UTR|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000538743.1_Silent_p.A165A|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000603380.1_Silent_p.A245A|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000587557.1_Silent_p.A309A|ZNF177_ENST00000605471.1_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	245					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						AATGTAAAGCATGTGGGAAAC	0.358																																						ENST00000393883.2																			0				endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						c.(733-735)gcA>gcG		zinc finger protein 559							79	82	81					19																	9452862		2199	4300	6499	SO:0001819	synonymous_variant	84527				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9452862A>G	AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"Zinc fingers, C2H2-type", "-"	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.735A>G	19.37:g.9452862A>G						ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000538743.1_Silent_p.A165A|ZNF559_ENST00000317221.7_3'UTR|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000587557.1_Silent_p.A309A|ZNF559_ENST00000592896.1_3'UTR|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000603380.1_Silent_p.A245A|ZNF177_ENST00000605471.1_Intron	p.A245A	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN			6	1383	+			245					K7EMG6	Silent	SNP	ENST00000393883.2	37	c.735A>G	CCDS12211.1																																																																																				0.358	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	NM_032497		11	52	0	0	0	0.000978159	0	11	52					G	9452862	A	G	9452862	2	3	285	1	0	0	0	0	0	0	0	1	17987	204	8	3		3	ZNF559	19	9452862	Silent	SNP	A	TCGA-EM-A22M-01A-11D-A17V-08	2330236	9452862	49676121	15	6142											
ZNF43	7594	broad.mit.edu	37	chr19	21990727	21990727	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catttttcacatttgtagggTttctctccagtatgaataat	6	7	2	1			TCGA-EM-A22M-01A-11D-A17V-08	TCGA-EM-A22M-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29f3295-8971-49b9-8398-b0e1f4912e2f	9f98823f-1528-433c-9aa7-cfdbb6732bd1	g.chr19:21990727T>G	ENST00000354959.4	-	4	2281	c.2112A>C	c.(2110-2112)aaA>aaC	p.K704N	ZNF43_ENST00000595461.1_Missense_Mutation_p.K698N|ZNF43_ENST00000598381.1_Missense_Mutation_p.K698N|ZNF43_ENST00000594012.1_Missense_Mutation_p.K698N	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	704					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ATTTGTAGGGTTTCTCTCCAG	0.368																																						ENST00000594012.1																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51						c.(2092-2094)aaA>aaC		zinc finger protein 43							46	50	49					19																	21990727		2188	4293	6481	SO:0001583	missense	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21990727T>G	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"Zinc fingers, C2H2-type", "-"	13109	protein-coding gene	gene with protein product		603972	"zinc finger protein 39-like 1 (KOX 27)", "zinc finger protein 43 (HTF6)"	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.2112A>C	19.37:g.21990727T>G	ENSP00000347045:p.Lys704Asn					ZNF43_ENST00000595461.1_Missense_Mutation_p.K698N|ZNF43_ENST00000354959.4_Missense_Mutation_p.K704N|ZNF43_ENST00000598381.1_Missense_Mutation_p.K698N	p.K698N	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	7	2608	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	704					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	c.2094A>C	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	T	7.864	0.726643	0.15439	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.26067	1.76	1.76	0.643	0.17770	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44201	0.1282	M	0.73753	2.245	0.32021	N	0.600748	D	0.89917	1.0	D	0.85130	0.997	T	0.49790	-0.8902	9	0.66056	D	0.02	.	5.1071	0.14790	0.0:0.336:0.0:0.664	.	704	P17038	ZNF43_HUMAN	N	703;704	ENSP00000347045:K704N	ENSP00000347045:K704N	K	-	3	2	ZNF43	21782567	0.705000	0.27846	0.014000	0.15608	0.752000	0.42762	0.186000	0.16978	-0.008000	0.14320	0.254000	0.18369	AAA		0.368	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		11	64	0	0	0	0.000978159	0	11	64					G	21990727	T	G	21990727	3	3	285	1	0	0	0	0	1	0	0	0	17900	1722	60	5	321	5	ZNF43	19	21990727	Missense_Mutation	SNP	T	TCGA-EM-A22M-01A-11D-A17V-08	12537865	21990727	37138256	16	6143											
ZNF226	7769	broad.mit.edu	37	chr19	44679858	44679858	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatttctgaagatgagaactAtatagtaaataaagcagatg	8	3	1	4			TCGA-EM-A22M-01A-11D-A17V-08	TCGA-EM-A22M-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29f3295-8971-49b9-8398-b0e1f4912e2f	9f98823f-1528-433c-9aa7-cfdbb6732bd1	g.chr19:44679858A>G	ENST00000590089.1	+	7	810	c.443A>G	c.(442-444)tAt>tGt	p.Y148C	ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Missense_Mutation_p.Y148C|ZNF226_ENST00000454662.2_Missense_Mutation_p.Y148C			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	148					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)						Prostate(69;0.0352)|all_neural(266;0.202)				GATGAGAACTATATAGTAAAT	0.393																																					Pancreas(115;581 1665 13228 19278 50070)	ENST00000590089.1																			0											c.(442-444)tAt>tGt		zinc finger protein 226							43	40	41					19																	44679858		1825	4075	5900	SO:0001583	missense	7769				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44679858A>G	AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"Zinc fingers, C2H2-type", "-"	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.443A>G	19.37:g.44679858A>G	ENSP00000465121:p.Tyr148Cys					ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Missense_Mutation_p.Y148C|ZNF226_ENST00000337433.5_Missense_Mutation_p.Y148C	p.Y148C			Q9NYT6	ZN226_HUMAN			7	810	+		Prostate(69;0.0352)|all_neural(266;0.202)	148					Q8WWE6|Q96TE6|Q9NS44	Missense_Mutation	SNP	ENST00000590089.1	37	c.443A>G	CCDS46102.1	.	.	.	.	.	.	.	.	.	.	a	6.599	0.478835	0.12581	.	.	ENSG00000167380	ENST00000337433;ENST00000454662	T;T	0.07114	3.22;3.22	4.37	-8.74	0.00838	.	.	.	.	.	T	0.02727	0.0082	N	0.02802	-0.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47674	-0.9099	9	0.38643	T	0.18	.	7.5939	0.28037	0.1317:0.0957:0.5835:0.189	.	148	Q9NYT6	ZN226_HUMAN	C	148	ENSP00000336719:Y148C;ENSP00000393265:Y148C	ENSP00000336719:Y148C	Y	+	2	0	ZNF226	49371698	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.418000	0.01034	-2.267000	0.00686	-1.042000	0.02369	TAT		0.393	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1			3	32	0	0	0	0.00024832	0	3	32					G	44679858	A	G	44679858	3	3	285	1	0	0	0	0	1	0	0	0	17777	449	16	3	511	3	ZNF226	19	44679858	Missense_Mutation	SNP	A	TCGA-EM-A22M-01A-11D-A17V-08	22689131	44679858	14449125	17	6144											
TRIM46	80128	broad.mit.edu	37	chr1	155156425	155156425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagggagggatggccccaCagccggctgcacagtgcccc	15	15	0	0			TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr1:155156425C>T	ENST00000334634.4	+	10	2039	c.2039C>T	c.(2038-2040)aCa>aTa	p.T680I	TRIM46_ENST00000368382.1_Missense_Mutation_p.T657I|TRIM46_ENST00000545012.1_Missense_Mutation_p.T554I|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000392451.2_3'UTR|MUC1_ENST00000462215.1_5'Flank	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	680	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GATGGCCCCACAGCCGGCTGC	0.657																																						ENST00000368382.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29						c.(1969-1971)aCa>aTa		tripartite motif containing 46							70	70	70					1																	155156425		2203	4300	6503	SO:0001583	missense	80128					intracellular	zinc ion binding	g.chr1:155156425C>T		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19019	protein-coding gene	gene with protein product		600986	"tripartite motif-containing 46"				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.2039C>T	1.37:g.155156425C>T	ENSP00000334657:p.Thr680Ile					TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000334634.4_Missense_Mutation_p.T680I|TRIM46_ENST00000545012.1_Missense_Mutation_p.T554I	p.T657I	NM_001256599.1|NM_001256600.1|NM_001256601.1|NM_025058.4	NP_001243528.1|NP_001243529.1|NP_001243530.1|NP_079334.3	Q7Z4K8	TRI46_HUMAN	Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		10	2107	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		680			B30.2/SPRY.		A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	37	c.1970C>T	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	C	6.068	0.380826	0.11466	.	.	ENSG00000163462	ENST00000430513;ENST00000545012;ENST00000368382;ENST00000334634	T;T;T	0.63096	-0.02;-0.02;-0.02	4.19	3.2	0.36748	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.451130	0.21216	N	0.078227	T	0.13756	0.0333	N	0.02539	-0.55	0.09310	N	1	B	0.30511	0.282	B	0.20955	0.032	T	0.11542	-1.0583	10	0.20046	T	0.44	.	10.5003	0.44802	0.0:0.8021:0.1979:0.0	.	680	Q7Z4K8	TRI46_HUMAN	I	638;554;657;680	ENSP00000440254:T554I;ENSP00000357366:T657I;ENSP00000334657:T680I	ENSP00000334657:T680I	T	+	2	0	TRIM46	153423049	0.002000	0.14202	0.008000	0.14137	0.088000	0.18126	-0.270000	0.08584	2.065000	0.61736	0.313000	0.20887	ACA		0.657	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058		14	41	0	0	0	0.016723	0	14	41					T	155156425	C	T	155156425	3	4	286	1	0	0	0	0	1	0	0	0	16518	478	17	2	2077	2	TRIM46	1	155156425	Missense_Mutation	SNP	C	TCGA-EM-A22N-01A-11D-A17V-08		155156425	94094196	1	6145											
COL3A1	1281	broad.mit.edu	37	chr2	189866147	189866147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctactggtcctattggtcctCctggcccagctggccagcct	10	16	0	0			TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr2:189866147C>T	ENST00000304636.3	+	33	2478	c.2308C>T	c.(2308-2310)Cct>Tct	p.P770S	COL3A1_ENST00000317840.5_Missense_Mutation_p.P770S	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	770	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TATTGGTCCTCCTGGCCCAGC	0.373																																						ENST00000304636.3																			0				NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(2308-2310)Cct>Tct		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						69	76	74					2																	189866147		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189866147C>T	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"Collagens"	2201	protein-coding gene	gene with protein product		120180	"Ehlers-Danlos syndrome type IV, autosomal dominant"	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2308C>T	2.37:g.189866147C>T	ENSP00000304408:p.Pro770Ser					COL3A1_ENST00000317840.5_Missense_Mutation_p.P770S	p.P770S	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		33	2478	+			770			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.2308C>T	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620605	0.66787	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.95885	-3.84;-3.84	5.38	5.38	0.77491	.	0.000000	0.49305	D	0.000147	D	0.95095	0.8411	M	0.69248	2.105	0.53688	D	0.999979	P	0.49635	0.926	P	0.46362	0.514	D	0.94990	0.8133	10	0.54805	T	0.06	.	15.0318	0.71713	0.0:0.8582:0.1418:0.0	.	770	P02461	CO3A1_HUMAN	S	770	ENSP00000304408:P770S;ENSP00000315243:P770S	ENSP00000304408:P770S	P	+	1	0	COL3A1	189574392	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	7.776000	0.85560	2.694000	0.91930	0.557000	0.71058	CCT		0.373	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		5	52	0	0	0	0.021553	0	5	52					T	189866147	C	T	189866147	3	4	286	1	0	0	0	0	1	0	0	0	3688	855	30	2	2438	2	COL3A1	2	189866147	Missense_Mutation	SNP	C	TCGA-EM-A22N-01A-11D-A17V-08		189866147	53333226	2	6146											
KIF2A	3796	broad.mit.edu	37	chr5	61643970	61643970	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctccacctccagcatcctcAgccaaagtaaacaaaattgt	4	15	1	0			TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr5:61643970A>T	ENST00000401507.3	+	3	566	c.255A>T	c.(253-255)tcA>tcT	p.S85S	KIF2A_ENST00000381103.2_Silent_p.S65S|KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000407818.3_Silent_p.S85S|KIF2A_ENST00000506857.1_Silent_p.S58S	NM_001243953.1|NM_004520.4	NP_001230882.1|NP_004511.2	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	85	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|nervous system development (GO:0007399)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		CAGCATCCTCAGCCAAAGTAA	0.438																																						ENST00000381103.2																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15						c.(193-195)tcA>tcT		kinesin heavy chain member 2A							93	96	95					5																	61643970		2203	4300	6503	SO:0001819	synonymous_variant	3796				blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding	g.chr5:61643970A>T	BC031828	CCDS3980.2, CCDS47216.1, CCDS58949.1	5q12-q13	2008-02-05	2006-09-26	2006-09-26	ENSG00000068796	ENSG00000068796		"Kinesins"	6318	protein-coding gene	gene with protein product		602591	"kinesin heavy chain member 2"	KIF2		9177777	Standard	NM_001098511		Approved	HK2	uc003jsz.4	O00139	OTTHUMG00000097755	ENST00000401507.3:c.255A>T	5.37:g.61643970A>T						KIF2A_ENST00000407818.3_Silent_p.S85S|KIF2A_ENST00000506857.1_Silent_p.S58S|KIF2A_ENST00000401507.3_Silent_p.S85S|KIF2A_ENST00000509663.2_Intron	p.S65S	NM_001243952.1	NP_001230881.1	O00139	KIF2A_HUMAN		Lung(70;0.14)	4	680	+		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)	85			Globular (Potential).		A5YM42|A5YM54|B4DY54|D3DW97|E9PB70|Q7Z5I3|Q8N5Q7	Silent	SNP	ENST00000401507.3	37	c.195A>T	CCDS3980.2																																																																																				0.438	KIF2A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317989.1	NM_004520		7	106	0	0	0	0.001984	0	7	106					T	61643970	A	T	61643970	2	4	286	1	0	0	0	0	0	0	0	1	8297	175	7	5		5	KIF2A	5	61643970	Silent	SNP	A	TCGA-EM-A22N-01A-11D-A17V-08		61643970	119271290	3	6147											
C9orf95	54981	broad.mit.edu	37	chr9	77692099	77692099	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtactgcaaaaatccattttTatctgtctctatctcagact	4	10	3	1			TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr9:77692099T>C	ENST00000361092.4	-	4	381	c.145A>G	c.(145-147)Aaa>Gaa	p.K49E	NMRK1_ENST00000376808.4_Missense_Mutation_p.K49E|NMRK1_ENST00000376811.1_Missense_Mutation_p.K53E	NM_017881.2	NP_060351.1	Q9NWW6	NRK1_HUMAN	nicotinamide riboside kinase 1	49					NAD biosynthetic process (GO:0009435)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|ribosylnicotinamide kinase activity (GO:0050262)										AATCCATTTTTATCTGTCTCT	0.303																																						ENST00000376811.1																			0											c.(157-159)Aaa>Gaa		nicotinamide riboside kinase 1							118	126	123					9																	77692099		2201	4297	6498	SO:0001583	missense	54981				pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|ribosylnicotinamide kinase activity	g.chr9:77692099T>C	AK097144	CCDS6650.1, CCDS47981.1	9q21.31	2012-03-30	2012-03-30	2012-03-30	ENSG00000106733	ENSG00000106733			26057	protein-coding gene	gene with protein product		608704	"chromosome 9 open reading frame 95"	C9orf95		15137942	Standard	NM_017881		Approved	FLJ20559, NRK1, bA235O14.2	uc004ajr.4	Q9NWW6	OTTHUMG00000020034	ENST00000361092.4:c.145A>G	9.37:g.77692099T>C	ENSP00000354387:p.Lys49Glu					NMRK1_ENST00000376808.4_Missense_Mutation_p.K49E|NMRK1_ENST00000361092.4_Missense_Mutation_p.K49E	p.K53E			Q9NWW6	NRK1_HUMAN			5	619	-			49					Q5W124|Q8N430	Missense_Mutation	SNP	ENST00000361092.4	37	c.157A>G	CCDS6650.1	.	.	.	.	.	.	.	.	.	.	T	5.210	0.224236	0.09863	.	.	ENSG00000106733	ENST00000376811;ENST00000376794;ENST00000361092;ENST00000376808	T;T;T	0.38887	1.11;1.11;1.11	6.06	-1.48	0.08745	.	0.712921	0.14239	N	0.332240	T	0.09992	0.0245	N	0.00403	-1.54	0.21553	N	0.999642	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.0	T	0.36720	-0.9736	10	0.02654	T	1	-2.4579	11.3098	0.49358	0.0:0.6247:0.0:0.3753	.	49;53;49	Q9NWW6-2;Q5W125;Q9NWW6	.;.;NRK1_HUMAN	E	53;53;49;49	ENSP00000366007:K53E;ENSP00000354387:K49E;ENSP00000366004:K49E	ENSP00000354387:K49E	K	-	1	0	C9orf95	76881919	1.000000	0.71417	0.756000	0.31282	0.995000	0.86356	0.943000	0.29030	-0.461000	0.06993	0.533000	0.62120	AAA		0.303	NMRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052705.1	NM_017881		6	112	0	0	0	0.001984	0	6	112					C	77692099	T	C	77692099	3	2	286	1	0	0	0	0	1	0	0	0	2507	1763	61	3	478	3	C9orf95	9	77692099	Missense_Mutation	SNP	T	TCGA-EM-A22N-01A-11D-A17V-08		77692099	63521332	4	6148											
OR5AK2	390181	broad.mit.edu	37	chr11	56756448	56756448	+	Missense_Mutation	SNP	G	G	T													cttctgggatttggtgcccaGcatgagttttggtgtatcct							TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr11:56756448G>T	ENST00000326855.2	+	1	102	c.60G>T	c.(58-60)caG>caT	p.Q20H		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q20H(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TTGGTGCCCAGCATGAGTTTT	0.408																																						ENST00000326855.2																			1	Substitution - Missense(1)	p.Q20H(1)	breast(1)	breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(58-60)caG>caT		olfactory receptor, family 5, subfamily AK, member 2							150	143	145					11																	56756448		2201	4296	6497	SO:0001583	missense	390181				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56756448G>T	AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"GPCR / Class A : Olfactory receptors"	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.60G>T	11.37:g.56756448G>T	ENSP00000322784:p.Gln20His						p.Q20H	NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN			1	102	+			20					B2RNZ9	Missense_Mutation	SNP	ENST00000326855.2	37	c.60G>T	CCDS31538.1	.	.	.	.	.	.	.	.	.	.	G	1.377	-0.584426	0.03827	.	.	ENSG00000181273	ENST00000326855	T	0.01335	5.0	3.66	-3.31	0.04988	.	0.446761	0.16291	U	0.220910	T	0.02083	0.0065	L	0.28776	0.89	0.09310	N	1	D	0.56968	0.978	P	0.60345	0.873	T	0.44590	-0.9318	10	0.25106	T	0.35	-6.3727	6.4602	0.21952	0.366:0.0:0.4927:0.1413	.	20	Q8NH90	O5AK2_HUMAN	H	20	ENSP00000322784:Q20H	ENSP00000322784:Q20H	Q	+	3	2	OR5AK2	56513024	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-3.551000	0.00433	-0.425000	0.07371	-1.050000	0.02344	CAG		0.408	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392446.1	NM_001005323		12	77	1	0	3.07112e-06	0.010729	7.78016e-06	12	77					T	56756448	G	T	56756448	3	4	286	1	0	0	0	0	1	0	0	0	11142	962	34	4	62	4	OR5AK2	11	56756448	Missense_Mutation	SNP	G	TCGA-EM-A22N-01A-11D-A17V-08		56756448	78250068	5	6149	33	2									
OR5AK2	390181	broad.mit.edu	37	chr11	56756449	56756449	+	Missense_Mutation	SNP	C	C	T													ttctgggatttggtgcccagCatgagttttggtgtatcctc							TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr11:56756449C>T	ENST00000326855.2	+	1	103	c.61C>T	c.(61-63)Cat>Tat	p.H21Y		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TGGTGCCCAGCATGAGTTTTG	0.413																																						ENST00000326855.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(61-63)Cat>Tat		olfactory receptor, family 5, subfamily AK, member 2							150	143	145					11																	56756449		2201	4296	6497	SO:0001583	missense	390181				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56756449C>T	AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"GPCR / Class A : Olfactory receptors"	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.61C>T	11.37:g.56756449C>T	ENSP00000322784:p.His21Tyr						p.H21Y	NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN			1	103	+			21					B2RNZ9	Missense_Mutation	SNP	ENST00000326855.2	37	c.61C>T	CCDS31538.1	.	.	.	.	.	.	.	.	.	.	C	0.064	-1.218225	0.01542	.	.	ENSG00000181273	ENST00000326855	T	0.00419	7.48	3.66	-1.24	0.09435	.	1.290410	0.05811	N	0.613975	T	0.00300	0.0009	L	0.35341	1.055	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41106	-0.9527	10	0.72032	D	0.01	-3.428	3.1765	0.06570	0.1611:0.4376:0.2966:0.1047	.	21	Q8NH90	O5AK2_HUMAN	Y	21	ENSP00000322784:H21Y	ENSP00000322784:H21Y	H	+	1	0	OR5AK2	56513025	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.701000	0.05075	-0.014000	0.14175	0.194000	0.17425	CAT		0.413	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392446.1	NM_001005323		12	77	0	0	0	0.010729	0	12	77					T	56756449	C	T	56756449	3	4	286	1	0	0	0	0	1	0	0	0	11142	710	25	2	63	2	OR5AK2	11	56756449	Missense_Mutation	SNP	C	TCGA-EM-A22N-01A-11D-A17V-08	1	56756449	78250067	6	6150	33	2									
EMG1	10436	broad.mit.edu	37	chr12	7080212	7080213	+	Splice_Site	INS	-	-	C													acaagatcggaggccgtagtINSttattgtggtgctggaaggg					rs11428482|rs374779752|rs17857448		TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr12:7080212_7080213insC	ENST00000261406.6	+	2	267_268	c.124_125insC	c.(124-126)ttt>tCtt	p.F42fs	PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000542912.1_5'Flank|PHB2_ENST00000544134.1_5'Flank|PHB2_ENST00000535923.1_5'Flank|EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000546111.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		GAGGCCGTAGTTTATTGTGGTG	0.569																																						ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3746,4		1873,0,2						5.4	1.0		dbSNP_120	28	7902,2		3951,0,1	no	frameshift	EMG1	NM_006331.7		5824,0,3	A1A1,A1R,RR		0.0253,0.1067,0.0515				11648,6				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080212_7080213insC	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"EMG1 nucleolar protein homolog (S. cerevisiae)"			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->C	12.37:g.7080212_7080213insC						U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA				Q92979	NEP1_HUMAN			0	157_158	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Frame_Shift_Ins	5	10						5	10	---	---	---	---	C	7080213	-	C	7080212	8	5	286	1	0	1	1	0	0	0	1	0	5090	1722	60	0	128	0	EMG1	12	7080212	Splice_Site	INS	-	TCGA-EM-A22N-01A-11D-A17V-08		7080212	126771683	7	6151											
FAM60A	58516	broad.mit.edu	37	chr12	31440669	31440669	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgactggttactgtaacaAggagattgagctggggaggc	15	6	1	3			TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr12:31440669A>C	ENST00000337682.4	-	5	773	c.405T>G	c.(403-405)ccT>ccG	p.P135P	FAM60A_ENST00000454658.2_Silent_p.P135P|FAM60A_ENST00000539409.1_5'UTR|FAM60A_ENST00000542983.1_5'UTR|FAM60A_ENST00000395766.1_5'UTR	NM_001135812.1	NP_001129284.1	Q9NP50	FA60A_HUMAN	family with sequence similarity 60, member A	135					negative regulation of cell migration (GO:0030336)	Sin3 complex (GO:0016580)				large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					TACTGTAACAAGGAGATTGAG	0.378																																						ENST00000337682.4																			0				large_intestine(1)|lung(2)	3						c.(403-405)ccT>ccG		family with sequence similarity 60, member A							78	75	76					12																	31440669		2203	4300	6503	SO:0001819	synonymous_variant	58516							g.chr12:31440669A>C	AF212220	CCDS8723.1	12p11.21	2012-11-30	2005-04-07	2005-04-07	ENSG00000139146	ENSG00000139146			30702	protein-coding gene	gene with protein product		615027	"chromosome 12 open reading frame 14"	C12orf14		11042152, 22984288, 22865885	Standard	NM_021238		Approved	TERA	uc001rke.3	Q9NP50	OTTHUMG00000168586	ENST00000337682.4:c.405T>G	12.37:g.31440669A>C						FAM60A_ENST00000395766.1_5'UTR|FAM60A_ENST00000539409.1_5'UTR|FAM60A_ENST00000542983.1_5'UTR|FAM60A_ENST00000454658.2_Silent_p.P135P	p.P135P	NM_001135812.1	NP_001129284.1	Q9NP50	FA60A_HUMAN			5	773	-	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)		135					D3DUV8|Q9BSZ8	Silent	SNP	ENST00000337682.4	37	c.405T>G	CCDS8723.1																																																																																				0.378	FAM60A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400347.1	NM_021238		6	37	0	0	0	0.001984	0	6	37					C	31440669	A	C	31440669	2	2	286	1	0	0	0	0	0	0	0	1	5595	59	3	5		5	FAM60A	12	31440669	Silent	SNP	A	TCGA-EM-A22N-01A-11D-A17V-08	24360457	31440669	102411226	8	6152											
SH2B3	10019	broad.mit.edu	37	chr12	111885971	111885971	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcttccacctggtgccttcGcccgaagaactggccaacag	9	15	1	1	rs143956445		TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr12:111885971G>T	ENST00000341259.2	+	8	1950	c.1593G>T	c.(1591-1593)tcG>tcT	p.S531S	SH2B3_ENST00000538307.1_Silent_p.S329S	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	531					blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic hemopoiesis (GO:0035162)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)	phosphate ion binding (GO:0042301)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10					Pazopanib(DB06589)	TGGTGCCTTCGCCCGAAGAAC	0.637																																						ENST00000341259.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						c.(1591-1593)tcG>tcT		SH2B adaptor protein 3							70	78	75					12																	111885971		2203	4300	6503	SO:0001819	synonymous_variant	10019				blood coagulation	cytosol	signal transducer activity	g.chr12:111885971G>T	AF055581	CCDS9153.1	12q24.12	2014-09-17				ENSG00000111252		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	29605	protein-coding gene	gene with protein product	"lymphocyte adaptor protein"	605093				10799879	Standard	NM_005475		Approved	LNK, IDDM20	uc001tse.3	Q9UQQ2		ENST00000341259.2:c.1593G>T	12.37:g.111885971G>T						SH2B3_ENST00000538307.1_Silent_p.S329S	p.S531S	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN			8	1950	+			531					B9EGG5|O95184	Silent	SNP	ENST00000341259.2	37	c.1593G>T	CCDS9153.1																																																																																				0.637	SH2B3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404779.1	NM_005475		4	70	1	0	1.23904e-05	0.014758	2.76962e-05	4	70					T	111885971	G	T	111885971	2	4	286	1	0	0	0	0	0	0	0	1	14229	1074	38	4		4	SH2B3	12	111885971	Silent	SNP	G	TCGA-EM-A22N-01A-11D-A17V-08	80445302	111885971	21965924	9	6153											
SLC38A7	55238	broad.mit.edu	37	chr16	58701385	58701385	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actccgtagctgaccagcacCcaccagctgtagaacagagg	10	14	0	3			TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr16:58701385C>A	ENST00000570101.1	-	11	2176	c.1293G>T	c.(1291-1293)tgG>tgT	p.W431C	SLC38A7_ENST00000564010.1_Missense_Mutation_p.W342C|SLC38A7_ENST00000219320.4_Missense_Mutation_p.W431C|SLC38A7_ENST00000564100.1_Missense_Mutation_p.G297V|SLC38A7_ENST00000566953.1_5'UTR			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	431					sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	L-alanine transmembrane transporter activity (GO:0015180)|L-amino acid transmembrane transporter activity (GO:0015179)|L-asparagine transmembrane transporter activity (GO:0015182)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|L-glutamine transmembrane transporter activity (GO:0015186)|L-histidine transmembrane transporter activity (GO:0005290)|L-leucine transmembrane transporter activity (GO:0015190)|L-methionine transmembrane transporter activity (GO:0015191)|L-serine transmembrane transporter activity (GO:0015194)			endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						TGACCAGCACCCACCAGCTGT	0.498																																						ENST00000570101.1																			0				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(1291-1293)tgG>tgT		solute carrier family 38, member 7							100	85	90					16																	58701385		2198	4300	6498	SO:0001583	missense	55238				amino acid transport|sodium ion transport	integral to membrane		g.chr16:58701385C>A	BC001961	CCDS10800.1	16q21	2013-05-22			ENSG00000103042	ENSG00000103042		"Solute carriers"	25582	protein-coding gene	gene with protein product		614236					Standard	XM_006721229		Approved	FLJ10815	uc002eod.1	Q9NVC3	OTTHUMG00000133491	ENST00000570101.1:c.1293G>T	16.37:g.58701385C>A	ENSP00000454646:p.Trp431Cys					SLC38A7_ENST00000219320.4_Missense_Mutation_p.W431C|SLC38A7_ENST00000564100.1_Missense_Mutation_p.G297V|SLC38A7_ENST00000564010.1_Missense_Mutation_p.W342C|SLC38A7_ENST00000566953.1_5'UTR	p.W431C			Q9NVC3	S38A7_HUMAN			11	2176	-			431					Q53GJ9|Q9H9I5	Missense_Mutation	SNP	ENST00000570101.1	37	c.1293G>T	CCDS10800.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.047414	0.55110	.	.	ENSG00000103042	ENST00000219320	T	0.02258	4.37	5.98	5.98	0.97165	.	0.315734	0.39020	N	0.001485	T	0.05686	0.0149	N	0.17082	0.46	0.80722	D	1	D	0.69078	0.997	D	0.64237	0.923	T	0.62001	-0.6946	9	.	.	.	-10.2782	19.4443	0.94840	0.0:1.0:0.0:0.0	.	431	Q9NVC3	S38A7_HUMAN	C	431	ENSP00000219320:W431C	.	W	-	3	0	SLC38A7	57258886	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	2.366000	0.44204	2.847000	0.97988	0.591000	0.81541	TGG		0.498	SLC38A7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422206.2	NM_018231		10	39	1	0	2.17888e-05	0.006214	4.59985e-05	10	39					A	58701385	C	A	58701385	3	1	286	1	0	0	0	0	1	0	0	0	14609	624	22	4	99	4	SLC38A7	16	58701385	Missense_Mutation	SNP	C	TCGA-EM-A22N-01A-11D-A17V-08		58701385	31653368	10	6154											
FLII	2314	broad.mit.edu	37	chr17	18149649	18149649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagggcgctgccgttggtgCggatctggtagaggctgggc	20	8	1	2			TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr17:18149649C>T	ENST00000327031.4	-	24	3404	c.3179G>A	c.(3178-3180)cGc>cAc	p.R1060H	FLII_ENST00000545457.2_Missense_Mutation_p.R1005H|FLII_ENST00000578558.1_Intron|FLII_ENST00000379450.4_Missense_Mutation_p.R974H|FLII_ENST00000579294.1_Missense_Mutation_p.R1049H	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	1060					multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GCCGTTGGTGCGGATCTGGTA	0.642																																						ENST00000327031.4																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(3178-3180)cGc>cAc		flightless I homolog (Drosophila)							92	93	93					17																	18149649		2203	4299	6502	SO:0001583	missense	2314				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	g.chr17:18149649C>T	U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"flightless I (Drosophila) homolog"			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.3179G>A	17.37:g.18149649C>T	ENSP00000324573:p.Arg1060His					FLII_ENST00000545457.2_Missense_Mutation_p.R1005H|FLII_ENST00000379450.4_Missense_Mutation_p.R974H|FLII_ENST00000579294.1_Missense_Mutation_p.R1049H|FLII_ENST00000578558.1_Intron	p.R1060H	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN			24	3404	-	all_neural(463;0.228)		1060					B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	ENST00000327031.4	37	c.3179G>A	CCDS11192.1	.	.	.	.	.	.	.	.	.	.	C	31	5.099809	0.94197	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T	0.24350	1.86;1.86	5.52	5.52	0.82312	.	0.101997	0.64402	D	0.000003	T	0.58623	0.2135	M	0.85777	2.775	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.987;0.999	T	0.64512	-0.6390	10	0.87932	D	0	-19.407	19.4312	0.94768	0.0:1.0:0.0:0.0	.	974;974;1060;1029	E7EPM0;B4DIL0;Q13045;B4DIX0	.;.;FLII_HUMAN;.	H	1060;939;974	ENSP00000324573:R1060H;ENSP00000368763:R974H	ENSP00000324573:R1060H	R	-	2	0	FLII	18090374	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.116000	0.77119	2.601000	0.87937	0.643000	0.83706	CGC		0.642	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		4	66	0	0	0	0.009096	0	4	66					T	18149649	C	T	18149649	3	4	286	1	0	0	0	0	1	0	0	0	5925	768	27	1	658	1	FLII	17	18149649	Missense_Mutation	SNP	C	TCGA-EM-A22N-01A-11D-A17V-08		18149649	63045561	11	6155											
CACNA1A	773	broad.mit.edu	37	chr19	13476148	13476148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctgtcccctcttcaaagCaggtggtatgaaattttccc	7	12	2	1			TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr19:13476148C>T	ENST00000360228.5	-	5	766	c.767G>A	c.(766-768)tGc>tAc	p.C256Y	CACNA1A_ENST00000573710.2_Missense_Mutation_p.C256Y	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	256			C -> R (in EA2; dbSNP:rs121908231). {ECO:0000269|PubMed:15173248}.		adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CTCTTCAAAGCAGGTGGTATG	0.453																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(766-768)tGc>tAc		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						99	100	100					19																	13476148		1882	4105	5987	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13476148C>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.767G>A	19.37:g.13476148C>T	ENSP00000353362:p.Cys256Tyr					CACNA1A_ENST00000573710.2_Missense_Mutation_p.C256Y	p.C256Y	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		5	766	-			256		C -> R (in EA2; dbSNP:rs121908231).			J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.767G>A	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476644	0.63737	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98762	-5.12	5.55	5.55	0.83447	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99588	0.9851	H	0.99074	4.42	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	D	0.97617	1.0133	10	0.87932	D	0	.	18.2896	0.90124	0.0:1.0:0.0:0.0	.	256;256	O00555;Q9NS88	CAC1A_HUMAN;.	Y	256	ENSP00000353362:C256Y	ENSP00000317661:C256Y	C	-	2	0	CACNA1A	13337148	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.585000	0.82584	2.603000	0.88011	0.655000	0.94253	TGC		0.453	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		19	75	0	0	0	0.010504	0	19	75					T	13476148	C	T	13476148	3	4	286	1	0	0	0	0	1	0	0	0	2538	710	25	2	7039	2	CACNA1A	19	13476148	Missense_Mutation	SNP	C	TCGA-EM-A22N-01A-11D-A17V-08		13476148	45652835	12	6156											
TCEA3	6920	broad.mit.edu	37	chr1	23743819	23743819	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtctgaacactcaagcccTttttccttcttctttgcctt	4	14	4	1			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr1:23743819T>C	ENST00000450454.2	-	4	409	c.303A>G	c.(301-303)aaA>aaG	p.K101K	TCEA3_ENST00000374601.3_Silent_p.K101K|TCEA3_ENST00000461794.1_Silent_p.K64K	NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	101					regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		ACTCAAGccctttttccttct	0.473																																						ENST00000450454.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7						c.(301-303)aaA>aaG		transcription elongation factor A (SII), 3							183	174	177					1																	23743819		1847	4094	5941	SO:0001819	synonymous_variant	6920				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding	g.chr1:23743819T>C	AJ223473	CCDS44086.1	1p36.11	2011-01-25			ENSG00000204219	ENSG00000204219			11615	protein-coding gene	gene with protein product		604128				9790746	Standard	NM_003196		Approved	TFIIS.H	uc021oig.1	O75764	OTTHUMG00000003233	ENST00000450454.2:c.303A>G	1.37:g.23743819T>C						TCEA3_ENST00000461794.1_Silent_p.K64K|TCEA3_ENST00000374601.3_Silent_p.K101K	p.K101K	NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)	4	409	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)	101					A8K2K7|Q5DR83	Silent	SNP	ENST00000450454.2	37	c.303A>G	CCDS44086.1																																																																																				0.473	TCEA3-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008911.2	NM_003196		3	123	0	0	0	0.004672	0	3	123					C	23743819	T	C	23743819	2	2	287	1	0	0	0	0	0	0	0	1	15666	1606	56	3		3	TCEA3	1	23743819	Silent	SNP	T	TCGA-EM-A22O-01A-11D-A17V-08		23743819	225506802	1	6157											
CNKSR1	10256	broad.mit.edu	37	chr1	26507021	26507021	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acctgctccagctctgccccCaaagcctcgaggctctggct	9	18	2	0			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr1:26507021C>G	ENST00000374253.5	+	2	169	c.130C>G	c.(130-132)Caa>Gaa	p.Q44E	CNKSR1_ENST00000480348.2_3'UTR|CNKSR1_ENST00000361530.6_Missense_Mutation_p.Q44E|CNKSR1_ENST00000531191.1_5'UTR	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	44	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCTGCCCCCAAAGCCTCGA	0.622																																					NSCLC(180;1396 2109 28270 30756 34275)	ENST00000361530.6																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(130-132)Caa>Gaa		connector enhancer of kinase suppressor of Ras 1							64	69	67					1																	26507021		2203	4300	6503	SO:0001583	missense	10256				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	g.chr1:26507021C>G	AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.130C>G	1.37:g.26507021C>G	ENSP00000363371:p.Gln44Glu					CNKSR1_ENST00000374253.5_Missense_Mutation_p.Q44E|CNKSR1_ENST00000480348.2_3'UTR|CNKSR1_ENST00000531191.1_5'UTR	p.Q44E			Q969H4	CNKR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)	2	275	+		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	44			SAM.		B1AMW9|O95381	Missense_Mutation	SNP	ENST00000374253.5	37	c.130C>G		.	.	.	.	.	.	.	.	.	.	C	13.00	2.106066	0.37145	.	.	ENSG00000142675	ENST00000361530;ENST00000422547;ENST00000374253	T;T	0.41065	1.01;1.01	5.0	4.09	0.47781	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.571210	0.19138	N	0.121769	T	0.32406	0.0828	L	0.28608	0.87	0.80722	D	1	B;B	0.16802	0.019;0.019	B;B	0.22152	0.038;0.023	T	0.08513	-1.0718	10	0.36615	T	0.2	-4.6009	12.4729	0.55797	0.0:0.9179:0.0:0.0821	.	44;44	Q969H4;Q53GM7	CNKR1_HUMAN;.	E	44	ENSP00000354609:Q44E;ENSP00000363371:Q44E	ENSP00000354609:Q44E	Q	+	1	0	CNKSR1	26379608	0.325000	0.24660	0.817000	0.32601	0.375000	0.29983	2.755000	0.47540	1.359000	0.45940	0.655000	0.94253	CAA		0.622	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314		7	93	0	0	0	0.00308	0	7	93					G	26507021	C	G	26507021	3	3	287	1	0	0	0	0	1	0	0	0	3606	595	21	4	136	4	CNKSR1	1	26507021	Missense_Mutation	SNP	C	TCGA-EM-A22O-01A-11D-A17V-08	2763202	26507021	222743600	2	6158											
ATXN7L2	127002	broad.mit.edu	37	chr1	110033986	110033986	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaccctctggctgtaggggcCtctcggccaaaactaaaaca	9	13	2	0			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr1:110033986C>G	ENST00000369870.3	+	10	1816	c.1801C>G	c.(1801-1803)Ctc>Gtc	p.L601V	CYB561D1_ENST00000369868.3_5'Flank|CYB561D1_ENST00000528785.1_5'Flank|ATXN7L2_ENST00000459635.1_3'UTR|CYB561D1_ENST00000533024.1_5'Flank|CYB561D1_ENST00000310611.4_5'Flank|CYB561D1_ENST00000496961.1_5'Flank|CYB561D1_ENST00000430195.2_5'Flank|CYB561D1_ENST00000527072.1_5'Flank|CYB561D1_ENST00000393709.3_5'Flank|CYB561D1_ENST00000420578.2_5'Flank	NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	601										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)		CTGTAGGGGCCTCTCGGCCAA	0.592																																						ENST00000369870.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17						c.(1801-1803)Ctc>Gtc		ataxin 7-like 2							57	63	61					1																	110033986		2203	4300	6503	SO:0001583	missense	127002							g.chr1:110033986C>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.1801C>G	1.37:g.110033986C>G	ENSP00000358886:p.Leu601Val					ATXN7L2_ENST00000459635.1_3'UTR	p.L601V	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	1816	+		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)	601						Missense_Mutation	SNP	ENST00000369870.3	37	c.1801C>G	CCDS30794.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.336705	0.41398	.	.	ENSG00000162650	ENST00000369870;ENST00000369869	T	0.33216	1.42	4.77	4.77	0.60923	.	0.232304	0.25006	N	0.033868	T	0.24624	0.0597	N	0.19112	0.55	0.32418	N	0.549767	D;D	0.61697	0.99;0.97	D;B	0.72982	0.979;0.352	T	0.09335	-1.0679	10	0.59425	D	0.04	-12.6035	8.8422	0.35148	0.0:0.9005:0.0:0.0995	.	228;601	Q5T6C4;Q5T6C5	.;AT7L2_HUMAN	V	601;228	ENSP00000358886:L601V	ENSP00000358885:L228V	L	+	1	0	ATXN7L2	109835509	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	4.379000	0.59575	2.468000	0.83385	0.462000	0.41574	CTC		0.592	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	NM_153340		37	54	0	0	0	0.003755	0	37	54					G	110033986	C	G	110033986	3	3	287	1	0	0	0	0	1	0	0	0	1217	681	24	4	1839	4	ATXN7L2	1	110033986	Missense_Mutation	SNP	C	TCGA-EM-A22O-01A-11D-A17V-08	83526965	110033986	139216635	3	6159											
TTC27	55622	broad.mit.edu	37	chr2	33036256	33036256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcccacgtatatggaaatGggcagagtgaaaagcctgat	12	7	0	3			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr2:33036256G>A	ENST00000317907.4	+	17	2395	c.2164G>A	c.(2164-2166)Ggg>Agg	p.G722R		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	722										breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						ATATGGAAATGGGCAGAGTGA	0.433																																						ENST00000317907.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(2164-2166)Ggg>Agg		tetratricopeptide repeat domain 27							101	104	103					2																	33036256		2203	4300	6503	SO:0001583	missense	55622						protein binding	g.chr2:33036256G>A	BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"Tetratricopeptide (TTC) repeat domain containing"	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.2164G>A	2.37:g.33036256G>A	ENSP00000313953:p.Gly722Arg						p.G722R	NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN			17	2395	+			722					A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Missense_Mutation	SNP	ENST00000317907.4	37	c.2164G>A	CCDS33176.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.666117	0.67700	.	.	ENSG00000018699	ENST00000317907	T	0.59224	0.28	5.22	5.22	0.72569	.	0.048626	0.85682	D	0.000000	T	0.68421	0.2999	L	0.52364	1.645	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	T	0.60042	-0.7340	10	0.10111	T	0.7	-18.5207	18.9912	0.92793	0.0:0.0:1.0:0.0	.	722	Q6P3X3	TTC27_HUMAN	R	722	ENSP00000313953:G722R	ENSP00000313953:G722R	G	+	1	0	TTC27	32889760	1.000000	0.71417	0.987000	0.45799	0.373000	0.29922	7.753000	0.85153	2.708000	0.92522	0.650000	0.86243	GGG		0.433	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735		13	16	0	0	0	0.001855	0	13	16					A	33036256	G	A	33036256	3	1	287	1	0	0	0	0	1	0	0	0	16692	1348	47	2	2230	2	TTC27	2	33036256	Missense_Mutation	SNP	G	TCGA-EM-A22O-01A-11D-A17V-08		33036256	210163117	4	6160											
PKP4	8502	broad.mit.edu	37	chr2	159519930	159519930	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaggctctgcagggtctctCcagaacctctctgctggcaa	11	13	3	1			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr2:159519930C>T	ENST00000389759.3	+	15	2662	c.2550C>T	c.(2548-2550)ctC>ctT	p.L850L	PKP4_ENST00000495123.1_3'UTR|PKP4_ENST00000389757.3_Silent_p.L850L|AC005042.4_ENST00000342892.4_RNA	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	850					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CAGGGTCTCTCCAGAACCTCT	0.453										HNSCC(62;0.18)																												ENST00000389757.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						c.(2548-2550)ctC>ctT		plakophilin 4							59	60	60					2																	159519930		2203	4300	6503	SO:0001819	synonymous_variant	8502				cell adhesion	desmosome	protein binding	g.chr2:159519930C>T	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"Armadillo repeat containing"	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.2550C>T	2.37:g.159519930C>T		HNSCC(62;0.18)				AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389759.3_Silent_p.L850L|PKP4_ENST00000495123.1_3'UTR	p.L850L	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN			15	2675	+			850					Q86W91	Silent	SNP	ENST00000389759.3	37	c.2550C>T	CCDS33305.1																																																																																				0.453	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			19	29	0	0	0	0.001882	0	19	29					T	159519930	C	T	159519930	2	4	287	1	0	0	0	0	0	0	0	1	11987	842	30	2		2	PKP4	2	159519930	Silent	SNP	C	TCGA-EM-A22O-01A-11D-A17V-08	126483674	159519930	83679443	5	6161											
CDK15	65061	broad.mit.edu	37	chr2	202744823	202744823	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcccagagaccgcgtctcCgcccaggaagcacttgttca	9	15	2	1			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr2:202744823C>T	ENST00000374598.4	+	12	1131	c.1131C>T	c.(1129-1131)tcC>tcT	p.S377S	CDK15_ENST00000260967.2_Silent_p.S326S|CDK15_ENST00000450471.2_Silent_p.S377S|CDK15_ENST00000434439.1_Silent_p.S377S|CDK15_ENST00000410091.3_Silent_p.S326S			Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	377	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	ACCGCGTCTCCGCCCAGGAAG	0.552																																						ENST00000450471.2																			0				breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26						c.(1129-1131)tcC>tcT		cyclin-dependent kinase 15	Adenosine triphosphate(DB00171)						86	76	79					2																	202744823		2203	4300	6503	SO:0001819	synonymous_variant	65061						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding	g.chr2:202744823C>T	AB053308	CCDS2350.1, CCDS58746.1, CCDS58747.1	2q33.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000138395	ENSG00000138395		"Cyclin-dependent kinases"	14434	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7", "PFTAIRE protein kinase 2"	ALS2CR7, PFTK2		11586298, 16236519, 19884882	Standard	NM_139158		Approved	PFTAIRE2	uc002uyt.3	Q96Q40	OTTHUMG00000132838	ENST00000374598.4:c.1131C>T	2.37:g.202744823C>T						CDK15_ENST00000410091.3_Silent_p.S326S|CDK15_ENST00000260967.2_Silent_p.S326S|CDK15_ENST00000374598.4_Silent_p.S377S|CDK15_ENST00000434439.1_Silent_p.S377S	p.S377S	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN			12	1217	+			377			Protein kinase.		A8K8R9|B8ZZX0|C9J1N8|C9K003|F8W6H8|Q4ZG86|Q53TV1|Q6ZMR9|Q8IUP1	Silent	SNP	ENST00000374598.4	37	c.1131C>T																																																																																					0.552	CDK15-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000336053.2			7	65	0	0	0	0.00308	0	7	65					T	202744823	C	T	202744823	2	4	287	1	0	0	0	0	0	0	0	1	3131	639	23	1		1	CDK15	2	202744823	Silent	SNP	C	TCGA-EM-A22O-01A-11D-A17V-08	43224893	202744823	40454550	6	6162											
CCDC39	339829	broad.mit.edu	37	chr3	180381672	180381672	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tacctgtgtaattgagagctCttgcttaacatttttgaagt	8	6	1	2			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr3:180381672C>G	ENST00000442201.2	-	2	312	c.193G>C	c.(193-195)Gag>Cag	p.E65Q	CCDC39_ENST00000273654.4_Missense_Mutation_p.E149Q	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	65					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ATTGAGAGCTCTTGCTTAACA	0.353																																						ENST00000273654.4																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45						c.(445-447)Gag>Cag		coiled-coil domain containing 39							143	133	137					3																	180381672		1841	4095	5936	SO:0001583	missense	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180381672C>G	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.193G>C	3.37:g.180381672C>G	ENSP00000405708:p.Glu65Gln					CCDC39_ENST00000442201.2_Missense_Mutation_p.E65Q	p.E149Q			Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		8	1064	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		65					B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	c.445G>C	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352188	0.82132	.	.	ENSG00000145075	ENST00000273654;ENST00000442201;ENST00000471307	T	0.80480	-1.38	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.90786	0.7107	M	0.85945	2.785	0.47905	D	0.999549	D	0.89917	1.0	D	0.97110	1.0	D	0.90717	0.4632	10	0.54805	T	0.06	-26.7352	17.3718	0.87380	0.0:1.0:0.0:0.0	.	65	Q9UFE4	CCD39_HUMAN	Q	149;65;47	ENSP00000418702:E47Q	ENSP00000273654:E149Q	E	-	1	0	CCDC39	181864366	1.000000	0.71417	0.739000	0.30968	0.964000	0.63967	5.161000	0.64935	2.890000	0.99128	0.585000	0.79938	GAG		0.353	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		15	44	0	0	0	0.003163	0	15	44					G	180381672	C	G	180381672	3	3	287	1	0	0	0	0	1	0	0	0	2811	922	32	4	2708	4	CCDC39	3	180381672	Missense_Mutation	SNP	C	TCGA-EM-A22O-01A-11D-A17V-08		180381672	17640758	7	6163											
SDAD1	55153	broad.mit.edu	37	chr4	76886950	76886950	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtgatgagatgcttgtgcAgcaaacagaaggatcttggt	14	5	1	3			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr4:76886950A>G	ENST00000356260.5	-	13	1189	c.1071T>C	c.(1069-1071)gcT>gcC	p.A357A	SDAD1_ENST00000513089.1_5'UTR|SDAD1_ENST00000395711.4_Silent_p.A320A	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	357					actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ATGCTTGTGCAGCAAACAGAA	0.473																																						ENST00000356260.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(1069-1071)gcT>gcC		SDA1 domain containing 1							169	154	159					4																	76886950		2203	4300	6503	SO:0001819	synonymous_variant	55153				protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding	g.chr4:76886950A>G	AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.1071T>C	4.37:g.76886950A>G						SDAD1_ENST00000395711.4_Silent_p.A320A|SDAD1_ENST00000513089.1_5'UTR	p.A357A	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		13	1189	-			357					Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Silent	SNP	ENST00000356260.5	37	c.1071T>C	CCDS3573.2																																																																																				0.473	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252418.3	NM_018115		29	79	0	0	0	0.001786	0	29	79					G	76886950	A	G	76886950	2	3	287	1	0	0	0	0	0	0	0	1	13950	175	7	3		3	SDAD1	4	76886950	Silent	SNP	A	TCGA-EM-A22O-01A-11D-A17V-08		76886950	114267326	8	6164											
HNRPDL	9987	broad.mit.edu	37	chr4	83350530	83350530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgctggcgcgcagtccggGtcgcggcagcagcggcggcg	21	13	0	0			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr4:83350530G>A	ENST00000295470.5	-	1	489	c.314C>T	c.(313-315)aCc>aTc	p.T105I	ENOPH1_ENST00000509635.1_5'Flank|HNRNPDL_ENST00000502762.1_Missense_Mutation_p.T105I|HNRNPDL_ENST00000602300.1_5'UTR|HNRNPDL_ENST00000514511.1_5'UTR|ENOPH1_ENST00000273920.3_5'Flank|HNRNPDL_ENST00000349655.4_5'UTR	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	105					regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)										CGCAGTCCGGGTCGCGGCAGC	0.622																																						ENST00000295470.5																			0											c.(313-315)aCc>aTc		heterogeneous nuclear ribonucleoprotein D-like							46	57	54					4																	83350530		2203	4300	6503	SO:0001583	missense	9987							g.chr4:83350530G>A	D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"RNA binding motif (RRM) containing"	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.314C>T	4.37:g.83350530G>A	ENSP00000295470:p.Thr105Ile					HNRNPDL_ENST00000349655.4_5'UTR|HNRNPDL_ENST00000602300.1_5'UTR|HNRNPDL_ENST00000514511.1_5'UTR|HNRNPDL_ENST00000502762.1_Missense_Mutation_p.T105I	p.T105I	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1					1	489	-								Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Missense_Mutation	SNP	ENST00000295470.5	37	c.314C>T	CCDS3593.1	.	.	.	.	.	.	.	.	.	.	g	15.76	2.928799	0.52759	.	.	ENSG00000152795	ENST00000295470;ENST00000502762	T;T	0.68331	-0.32;-0.32	4.94	4.07	0.47477	.	0.000000	0.44688	D	0.000425	T	0.44117	0.1278	N	0.08118	0	0.39380	D	0.966246	B	0.28026	0.198	B	0.18263	0.021	T	0.44832	-0.9302	10	0.39692	T	0.17	.	12.7407	0.57251	0.0:0.1659:0.8341:0.0	.	105	O14979	HNRDL_HUMAN	I	105	ENSP00000295470:T105I;ENSP00000422040:T105I	ENSP00000295470:T105I	T	-	2	0	HNRPDL	83569554	0.533000	0.26354	0.073000	0.20177	0.526000	0.34562	0.653000	0.24902	1.405000	0.46838	0.585000	0.79938	ACC		0.622	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252644.1	NM_005463		19	59	0	0	0	0.006122	0	19	59					A	83350530	G	A	83350530	3	1	287	1	0	0	0	0	1	0	0	0	7276	1261	44	2	976	2	HNRPDL	4	83350530	Missense_Mutation	SNP	G	TCGA-EM-A22O-01A-11D-A17V-08	6463580	83350530	107803746	9	6165											
DDX60L	91351	broad.mit.edu	37	chr4	169374416	169374416	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttccacctcctgcagggaTaggcaattactgtgcacctg	9	13	1	0			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr4:169374416T>C	ENST00000511577.1	-	8	1102	c.855A>G	c.(853-855)ctA>ctG	p.L285L	DDX60L_ENST00000260184.7_Silent_p.L285L|DDX60L_ENST00000505890.1_Silent_p.L285L			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	285							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CCTGCAGGGATAGGCAATTAC	0.463																																						ENST00000511577.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(853-855)ctA>ctG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							76	79	78					4																	169374416		2024	4206	6230	SO:0001819	synonymous_variant	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169374416T>C	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.855A>G	4.37:g.169374416T>C						DDX60L_ENST00000260184.7_Silent_p.L285L|DDX60L_ENST00000505890.1_Silent_p.L285L	p.L285L			Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	8	1102	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	285					Q96ND6	Silent	SNP	ENST00000511577.1	37	c.855A>G																																																																																					0.463	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		11	16	0	0	0	0.001855	0	11	16					C	169374416	T	C	169374416	2	2	287	1	0	0	0	0	0	0	0	1	4379	1393	49	3		3	DDX60L	4	169374416	Silent	SNP	T	TCGA-EM-A22O-01A-11D-A17V-08	86023886	169374416	21779860	10	6166											
CSNK1G3	1456	broad.mit.edu	37	chr5	122881412	122881412	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgatagaatggcacgacctAgtggtcgatcgggacacaac	12	9	0	2			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr5:122881412A>G	ENST00000361991.2	+	1	85	c.55A>G	c.(55-57)Agt>Ggt	p.S19G	CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000345990.4_Missense_Mutation_p.S19G|CSNK1G3_ENST00000510842.2_Missense_Mutation_p.S19G|CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000360683.2_Missense_Mutation_p.S19G|CSNK1G3_ENST00000395412.1_Missense_Mutation_p.S19G|CSNK1G3_ENST00000521364.1_Missense_Mutation_p.S19G|CSNK1G3_ENST00000395411.1_Missense_Mutation_p.S19G|CSNK1G3_ENST00000508708.1_3'UTR			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	19					cellular protein modification process (GO:0006464)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		GGCACGACCTAGTGGTCGATC	0.403																																					Pancreas(187;2868 2964 4353 6297)	ENST00000395412.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15						c.(55-57)Agt>Ggt		casein kinase 1, gamma 3							135	115	122					5																	122881412		2203	4300	6503	SO:0001583	missense	1456				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr5:122881412A>G	AF049090	CCDS4135.1, CCDS34218.1, CCDS43355.1, CCDS59491.1, CCDS59492.1, CCDS59493.1	5q23	2013-01-17			ENSG00000151292	ENSG00000151292			2456	protein-coding gene	gene with protein product		604253				9925945	Standard	NM_004384		Approved		uc031skv.1	Q9Y6M4	OTTHUMG00000128923	ENST00000361991.2:c.55A>G	5.37:g.122881412A>G	ENSP00000354942:p.Ser19Gly					CSNK1G3_ENST00000360683.2_Missense_Mutation_p.S19G|CSNK1G3_ENST00000345990.4_Missense_Mutation_p.S19G|CSNK1G3_ENST00000508708.1_3'UTR|CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000510842.2_Missense_Mutation_p.S19G|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000395411.1_Missense_Mutation_p.S19G|CSNK1G3_ENST00000521364.1_Missense_Mutation_p.S19G|CSNK1G3_ENST00000361991.2_Missense_Mutation_p.S19G	p.S19G	NM_001044723.1	NP_001038188.1	Q9Y6M4	KC1G3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)	2	774	+		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	19					A8K040|B4DSH2|B7Z9Q4|E7EVD0|Q86WZ7|Q9Y6M3	Missense_Mutation	SNP	ENST00000361991.2	37	c.55A>G	CCDS4135.1	.	.	.	.	.	.	.	.	.	.	A	10.70	1.425353	0.25639	.	.	ENSG00000151292	ENST00000395412;ENST00000395411;ENST00000345990;ENST00000521364;ENST00000510842;ENST00000361991;ENST00000360683	T;T;T;T;T;T;T	0.51574	0.71;0.7;0.73;0.73;0.7;0.7;0.71	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.35068	0.0919	L	0.27053	0.805	0.44402	D	0.99731	B;B;B;B	0.06786	0.0;0.001;0.0;0.001	B;B;B;B	0.10450	0.002;0.005;0.002;0.005	T	0.13308	-1.0514	10	0.15952	T	0.53	.	15.4517	0.75279	1.0:0.0:0.0:0.0	.	19;19;19;19	A8K040;Q9Y6M4-3;Q9Y6M4;Q9Y6M4-2	.;.;KC1G3_HUMAN;.	G	19	ENSP00000378807:S19G;ENSP00000378806:S19G;ENSP00000334735:S19G;ENSP00000429412:S19G;ENSP00000423838:S19G;ENSP00000354942:S19G;ENSP00000353904:S19G	ENSP00000334735:S19G	S	+	1	0	CSNK1G3	122909311	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.209000	0.42806	2.263000	0.75096	0.533000	0.62120	AGT		0.403	CSNK1G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250900.1	NM_004384		3	26	0	0	0	0.004672	0	3	26					G	122881412	A	G	122881412	3	3	287	1	0	0	0	0	1	0	0	0	3956	420	15	3	57	3	CSNK1G3	5	122881412	Missense_Mutation	SNP	A	TCGA-EM-A22O-01A-11D-A17V-08		122881412	58033848	11	6167											
HIST1H2BK	85236	broad.mit.edu	37	chr6	27114417	27114417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatggccttagaggagatgCcggtgtcggggtggacctgc	17	10	0	2			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr6:27114417C>T	ENST00000356950.1	-	1	160	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST1H2BK_ENST00000396891.4_Missense_Mutation_p.G54D|MIR3143_ENST00000584253.1_RNA|HIST1H2AH_ENST00000377459.1_5'Flank			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	54					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						AGAGGAGATGCCGGTGTCGGG	0.582																																						ENST00000396891.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(160-162)gGc>gAc		histone cluster 1, H2bk							106	96	99					6																	27114417		2203	4296	6499	SO:0001583	missense	85236				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27114417C>T	AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"Histones / Replication-dependent"	13954	protein-coding gene	gene with protein product		615045	"H2B histone family, member T", "histone 1, H2bk"	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.161G>A	6.37:g.27114417C>T	ENSP00000349430:p.Gly54Asp					HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.G54D	p.G54D	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN			1	202	-			54					A8K7P7|Q2VPI7	Missense_Mutation	SNP	ENST00000356950.1	37	c.161G>A	CCDS4621.1	.	.	.	.	.	.	.	.	.	.	.	23.2	4.382839	0.82792	.	.	ENSG00000197903	ENST00000396891;ENST00000356950	T;T	0.69435	-0.4;-0.4	4.05	3.14	0.36123	Histone-fold (2);Histone core (1);	.	.	.	.	D	0.84817	0.5556	H	0.98487	4.245	0.46317	D	0.998988	D	0.71674	0.998	D	0.72075	0.976	D	0.89042	0.3449	9	0.87932	D	0	.	11.8762	0.52548	0.0:0.821:0.179:0.0	.	54	O60814	H2B1K_HUMAN	D	54	ENSP00000380100:G54D;ENSP00000349430:G54D	ENSP00000349430:G54D	G	-	2	0	HIST1H2BK	27222396	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.198000	0.65147	0.961000	0.38030	0.650000	0.86243	GGC		0.582	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040141.1	NM_080593		5	214	0	0	0	0.000602	0	5	214					T	27114417	C	T	27114417	3	4	287	1	0	0	0	0	1	0	0	0	7150	739	26	2	223	2	HIST1H2BK	6	27114417	Missense_Mutation	SNP	C	TCGA-EM-A22O-01A-11D-A17V-08		27114417	144000650	12	6168											
PRICKLE4	29964	broad.mit.edu	37	chr6	41754716	41754716	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagactattcgtgatcccaAggacacccctttctccacct	7	15	1	2			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr6:41754716A>G	ENST00000394260.1	+	5	884	c.884A>G	c.(883-885)aAg>aGg	p.K295R	TOMM6_ENST00000398884.3_5'Flank|PRICKLE4_ENST00000458694.1_Missense_Mutation_p.K335R|TOMM6_ENST00000398881.3_5'Flank|PRICKLE4_ENST00000394263.1_Missense_Mutation_p.K335R			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	295						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CGTGATCCCAAGGACACCCCT	0.607											OREG0017435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000458694.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13						c.(1003-1005)aAg>aGg		prickle homolog 4 (Drosophila)							128	151	143					6																	41754716		2203	4300	6503	SO:0001583	missense	29964					nucleus	zinc ion binding	g.chr6:41754716A>G	AF216754	CCDS34449.1	6p21.1	2010-08-05	2007-09-18	2007-09-18	ENSG00000124593	ENSG00000124593			16805	protein-coding gene	gene with protein product		611389	"chromosome 6 open reading frame 49"	C6orf49		15702247	Standard	NM_013397		Approved	OEBT, DKFZp761H221	uc011duf.1	Q2TBC4	OTTHUMG00000014685	ENST00000394260.1:c.884A>G	6.37:g.41754716A>G	ENSP00000377803:p.Lys295Arg		OREG0017435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	903	PRICKLE4_ENST00000394260.1_Missense_Mutation_p.K295R|PRICKLE4_ENST00000394263.1_Missense_Mutation_p.K335R	p.K335R	NM_013397.5	NP_037529.3	Q2TBC4	PRIC4_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		8	1252	+	Ovarian(28;0.0355)|Colorectal(47;0.121)		295					A2A3M0|A6PVU1|B3KQ15|Q5T3D4|Q9NSV1	Missense_Mutation	SNP	ENST00000394260.1	37	c.1004A>G		.	.	.	.	.	.	.	.	.	.	A	9.611	1.131166	0.21041	.	.	ENSG00000124593	ENST00000458694;ENST00000394263;ENST00000394260	D;D;D	0.84873	-1.91;-1.91;-1.91	2.2	-4.4	0.03600	.	0.274599	0.25860	N	0.027834	T	0.46464	0.1394	L	0.27053	0.805	0.41394	D	0.987634	B	0.09022	0.002	B	0.09377	0.004	T	0.18116	-1.0347	10	0.25751	T	0.34	-1.4461	0.41	0.00439	0.3449:0.192:0.2742:0.1889	.	335	Q2TBC4-3	.	R	335;335;295	ENSP00000404911:K335R;ENSP00000377806:K335R;ENSP00000377803:K295R	ENSP00000335185:K335R	K	+	2	0	PRICKLE4	41862694	0.769000	0.28531	0.006000	0.13384	0.003000	0.03518	2.635000	0.46537	-1.250000	0.02497	-0.441000	0.05720	AAG		0.607	PRICKLE4-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000303948.1	NM_013397		4	165	0	0	0	0.000602	0	4	165					G	41754716	A	G	41754716	3	3	287	1	0	0	0	0	1	0	0	0	12489	72	3	3	1026	3	PRICKLE4	6	41754716	Missense_Mutation	SNP	A	TCGA-EM-A22O-01A-11D-A17V-08	14640299	41754716	129360351	13	6169											
MUC17	140453	broad.mit.edu	37	chr7	100679804	100679804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcagaacaacaccggtgGccagctctgcaatcagcacc	9	15	3	1	rs71525815		TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr7:100679804G>A	ENST00000306151.4	+	3	5171	c.5107G>A	c.(5107-5109)Gcc>Acc	p.A1703T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1703	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACACCGGTGGCCAGCTCTGC	0.478																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(5107-5109)Gcc>Acc		mucin 17, cell surface associated							184	198	193					7																	100679804		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679804G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5107G>A	7.37:g.100679804G>A	ENSP00000302716:p.Ala1703Thr						p.A1703T	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	5171	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1703			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.5107G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	3.030	-0.199843	0.06219	.	.	ENSG00000169876	ENST00000306151	T	0.02015	4.5	0.932	-1.86	0.07760	.	.	.	.	.	T	0.01320	0.0043	L	0.29908	0.895	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.49163	-0.8968	9	0.02654	T	1	.	2.2302	0.03994	0.4295:0.3137:0.2568:0.0	.	1703	Q685J3	MUC17_HUMAN	T	1703	ENSP00000302716:A1703T	ENSP00000302716:A1703T	A	+	1	0	MUC17	100466524	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-5.235000	0.00139	-0.910000	0.03847	0.134000	0.15878	GCC		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		23	289	0	0	0	0.00632	0	23	289					A	100679804	G	A	100679804	3	1	287	1	0	0	0	0	1	0	0	0	9974	1203	42	2	5117	2	MUC17	7	100679804	Missense_Mutation	SNP	G	TCGA-EM-A22O-01A-11D-A17V-08		100679804	58458859	14	6170											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		14	23	0	0	0	0.003163	0	14	23					T	140453136	A	T	140453136	3	4	287	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A22O-01A-11D-A17V-08	39773332	140453136	18685527	15	6171											
KCNH2	3757	broad.mit.edu	37	chr7	150648922	150648922	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtcttcagcagcccgatcAgctgggggacagggaagggg	17	10	3	0			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr7:150648922A>G	ENST00000262186.5	-	7	1960	c.1559T>C	c.(1558-1560)cTg>cCg	p.L520P	KCNH2_ENST00000330883.4_Splice_Site_p.L180P|KCNH2_ENST00000392968.2_Splice_Site_p.L424P|KCNH2_ENST00000430723.3_Splice_Site_p.L520P	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	520					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CAGCCCGATCAGCTGGGGGAC	0.667																																					GBM(137;110 1844 13671 20123 45161)	ENST00000392968.2																			0				NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42						c.e5-1		potassium voltage-gated channel, subfamily H (eag-related), member 2	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)						22	24	23					7																	150648922		2202	4296	6498	SO:0001630	splice_region_variant	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150648922A>G	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.1558-1T>C	7.37:g.150648922A>G						KCNH2_ENST00000430723.3_Splice_Site_p.L520_splice|KCNH2_ENST00000262186.5_Splice_Site_p.L520_splice|KCNH2_ENST00000330883.4_Splice_Site_p.L180_splice	p.L424_splice			Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	2391	-	all_neural(206;0.219)		520					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Splice_Site	SNP	ENST00000262186.5	37	c.1269_splice	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	A	14.17	2.456564	0.43634	.	.	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186;ENST00000350328;ENST00000430723	D;D;D;D	0.98862	-5.19;-5.19;-5.19;-5.19	4.08	4.08	0.47627	Ion transport (1);	0.000000	0.64402	D	0.000004	D	0.98960	0.9646	M	0.84846	2.72	0.80722	D	1	D;D;D;D;P	0.89917	1.0;1.0;0.998;0.986;0.733	D;D;D;P;P	0.91635	0.999;0.998;0.981;0.897;0.493	D	0.99047	1.0826	10	0.44086	T	0.13	.	11.0763	0.48034	1.0:0.0:0.0:0.0	.	424;520;180;520;180	C4PFH9;G5E9I0;Q708S9;Q12809;Q12809-2	.;.;.;KCNH2_HUMAN;.	P	180;424;520;180;520	ENSP00000328531:L180P;ENSP00000376695:L424P;ENSP00000262186:L520P;ENSP00000387657:L520P	ENSP00000262186:L520P	L	-	2	0	KCNH2	150279855	1.000000	0.71417	0.955000	0.39395	0.096000	0.18686	8.998000	0.93550	1.728000	0.51552	0.402000	0.26972	CTG		0.667	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238	Missense_Mutation	3	37	0	0	0	0.004672	0	3	37					G	150648922	A	G	150648922	5	3	287	1	0	0	0	0	0	0	1	0	8032	202	7	3	2225	3	KCNH2	7	150648922	Splice_Site	SNP	A	TCGA-EM-A22O-01A-11D-A17V-08	10195786	150648922	8489741	16	6172											
PABPC1	26986	broad.mit.edu	37	chr8	101719214	101719214	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggcggatagcaccgggcaTattttggaatgctgcatttt	13	7	0	0			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr8:101719214T>C	ENST00000318607.5	-	10	2476	c.1348A>G	c.(1348-1350)Atg>Gtg	p.M450V	PABPC1_ENST00000519596.1_Intron|PABPC1_ENST00000519004.1_Missense_Mutation_p.M405V|PABPC1_ENST00000522387.1_Missense_Mutation_p.M418V|AP001205.1_ENST00000579868.1_RNA	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	450					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|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 nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			GCACCGGGCATATTTTGGAAT	0.438																																						ENST00000318607.5																			0				breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40						c.(1348-1350)Atg>Gtg		poly(A) binding protein, cytoplasmic 1							54	54	54					8																	101719214		2203	4300	6503	SO:0001583	missense	26986				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity	g.chr8:101719214T>C	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1348A>G	8.37:g.101719214T>C	ENSP00000313007:p.Met450Val					PABPC1_ENST00000519596.1_Intron|PABPC1_ENST00000519004.1_Missense_Mutation_p.M405V|PABPC1_ENST00000522387.1_Missense_Mutation_p.M418V	p.M450V	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)		10	2476	-	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		450					Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	c.1348A>G	CCDS6289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.86|10.86	1.468962|1.468962	0.26335|0.26335	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000517403|ENST00000318607;ENST00000519004;ENST00000522387	.|T;T;T	.|0.29397	.|1.67;1.57;2.65	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.25269|0.25269	0.0614|0.0614	L|L	0.33293|0.33293	1|1	0.54753|0.54753	D|D	0.999989|0.999989	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.04013	.|0.0;0.001;0.001	T|T	0.04737|0.04737	-1.0930|-1.0930	5|9	.|.	.|.	.|.	.|.	16.1251|16.1251	0.81386|0.81386	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|418;450;450	.|E7ERJ7;B3KT93;P11940	.|.;.;PABP1_HUMAN	M|V	102|450;405;418	.|ENSP00000313007:M450V;ENSP00000429594:M405V;ENSP00000429395:M418V	.|.	I|M	-|-	3|1	3|0	PABPC1|PABPC1	101788390|101788390	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.414000|7.414000	0.80117|0.80117	2.272000|2.272000	0.75746|0.75746	0.528000|0.528000	0.53228|0.53228	ATA|ATG		0.438	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		3	48	0	0	0	0.004672	0	3	48					C	101719214	T	C	101719214	3	2	287	1	0	0	0	0	1	0	0	0	11363	1406	49	3	582	3	PABPC1	8	101719214	Missense_Mutation	SNP	T	TCGA-EM-A22O-01A-11D-A17V-08		101719214	44644808	17	6173											
NIPSNAP3A	25934	broad.mit.edu	37	chr9	107510105	107510105	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaagcgccctgactcgggCgctggcctcacggacgctgg	15	15	1	2			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr9:107510105C>T	ENST00000374767.4	+	1	137	c.32C>T	c.(31-33)gCg>gTg	p.A11V		NM_015469.1	NP_056284.1	Q9UFN0	NPS3A_HUMAN	nipsnap homolog 3A (C. elegans)	11						cytoplasm (GO:0005737)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	8						CTGACTCGGGCGCTGGCCTCA	0.682																																						ENST00000374767.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(31-33)gCg>gTg		nipsnap homolog 3A (C. elegans)							11	13	12					9																	107510105		2195	4281	6476	SO:0001583	missense	25934							g.chr9:107510105C>T	BC005935	CCDS6760.1	9q31.3	2003-11-27			ENSG00000136783	ENSG00000136783			23619	protein-coding gene	gene with protein product		608871				12477932	Standard	NM_015469		Approved	DKFZp564D177, FLJ13953, HSPC299, MGC14553		Q9UFN0	OTTHUMG00000020413	ENST00000374767.4:c.32C>T	9.37:g.107510105C>T	ENSP00000363899:p.Ala11Val						p.A11V	NM_015469.1	NP_056284.1					1	137	+								A6NM55|Q5VX32|Q9BRV7|Q9H843|Q9P083	Missense_Mutation	SNP	ENST00000374767.4	37	c.32C>T	CCDS6760.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.504959	0.64410	.	.	ENSG00000136783	ENST00000374767	T	0.56611	0.45	3.67	-1.46	0.08800	.	0.688763	0.13796	N	0.362143	T	0.42108	0.1188	L	0.53249	1.67	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.34527	-0.9825	10	0.48119	T	0.1	.	7.3163	0.26503	0.0:0.4292:0.0:0.5708	.	11;11	B4DW81;Q9UFN0	.;NPS3A_HUMAN	V	11	ENSP00000363899:A11V	ENSP00000363899:A11V	A	+	2	0	NIPSNAP3A	106549926	0.000000	0.05858	0.001000	0.08648	0.107000	0.19398	-0.194000	0.09559	-0.305000	0.08831	0.563000	0.77884	GCG		0.682	NIPSNAP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053484.1	NM_015469		6	15	0	0	0	0.001984	0	6	15					T	107510105	C	T	107510105	3	4	287	1	0	0	0	0	1	0	0	0	10430	768	27	1	34	1	NIPSNAP3A	9	107510105	Missense_Mutation	SNP	C	TCGA-EM-A22O-01A-11D-A17V-08		107510105	33703326	18	6174											
FZD8	8325	broad.mit.edu	37	chr10	35929590	35929590	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggcagcgcgcagttagcgatCtggcctgtcttgacgcggtt	15	11	2	1			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr10:35929590C>A	ENST00000374694.1	-	1	772	c.768G>T	c.(766-768)caG>caT	p.Q256H	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	256					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						AGTTAGCGATCTGGCCTGTCT	0.682																																						ENST00000374694.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						c.(766-768)caG>caT		frizzled family receptor 8							42	41	41					10																	35929590		2202	4300	6502	SO:0001583	missense	8325				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr10:35929590C>A	AB043703	CCDS7192.1	10p11.2	2014-01-29	2014-01-29		ENSG00000177283	ENSG00000177283		"GPCR / Class F : Frizzled receptors"	4046	protein-coding gene	gene with protein product		606146	"frizzled (Drosophila) homolog 8", "frizzled homolog 8 (Drosophila)", "frizzled 8, seven transmembrane spanning receptor", "frizzled family receptor 8"			11295046	Standard	NM_031866		Approved		uc001iyz.1	Q9H461	OTTHUMG00000017956	ENST00000374694.1:c.768G>T	10.37:g.35929590C>A	ENSP00000363826:p.Gln256His						p.Q256H	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN			1	772	-			256						Missense_Mutation	SNP	ENST00000374694.1	37	c.768G>T	CCDS7192.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.344727	0.24426	.	.	ENSG00000177283	ENST00000374694	T	0.80994	-1.44	2.6	2.6	0.31112	.	0.079813	0.51477	U	0.000093	T	0.70727	0.3257	L	0.32530	0.975	0.39784	D	0.972334	B	0.21520	0.057	B	0.24269	0.052	T	0.70622	-0.4821	10	0.46703	T	0.11	.	12.2947	0.54838	0.0:1.0:0.0:0.0	.	256	Q9H461	FZD8_HUMAN	H	256	ENSP00000363826:Q256H	ENSP00000363826:Q256H	Q	-	3	2	FZD8	35969596	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	1.542000	0.36137	1.458000	0.47871	0.289000	0.19496	CAG		0.682	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047575.2	NM_031866		26	23	1	0	3.28513e-13	0.003954	4.46777e-13	26	23					A	35929590	C	A	35929590	3	1	287	1	0	0	0	0	1	0	0	0	6136	912	32	4	1320	4	FZD8	10	35929590	Missense_Mutation	SNP	C	TCGA-EM-A22O-01A-11D-A17V-08		35929590	99605157	19	6175											
CDH23	64072	broad.mit.edu	37	chr10	73537998	73537998	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgagatcagccacggccgctAcaccctgatcgtcactgcca	9	17	2	2			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr10:73537998A>G	ENST00000224721.6	+	39	5140	c.5135A>G	c.(5134-5136)tAc>tGc	p.Y1712C		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1707	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CACGGCCGCTACACCCTGATC	0.607																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(5134-5136)tAc>tGc		cadherin-related 23							77	86	83					10																	73537998		2116	4223	6339	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73537998A>G	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.5135A>G	10.37:g.73537998A>G	ENSP00000224721:p.Tyr1712Cys						p.Y1712C	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			39	5140	+			1707			Cadherin 16.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.5135A>G		.	.	.	.	.	.	.	.	.	.	A	25.4	4.630684	0.87660	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721	.	.	.	5.4	5.4	0.78164	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.87458	0.6182	H	0.95884	3.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91505	0.5222	9	0.87932	D	0	.	15.4434	0.75208	1.0:0.0:0.0:0.0	.	1707	Q9H251	CAD23_HUMAN	C	1712;1707;1710	.	ENSP00000224721:Y1712C	Y	+	2	0	CDH23	73208004	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.194000	0.94962	2.053000	0.61076	0.533000	0.62120	TAC		0.607	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		5	60	0	0	0	0.000602	0	5	60					G	73537998	A	G	73537998	3	3	287	1	0	0	0	0	1	0	0	0	3108	391	14	3	5619	3	CDH23	10	73537998	Missense_Mutation	SNP	A	TCGA-EM-A22O-01A-11D-A17V-08	37608408	73537998	61996749	20	6176											
CARS	833	broad.mit.edu	37	chr11	3023813	3023813	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccgcctcctctttcttcttCctcttctcctcttcaacctg	3	19	7	0			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr11:3023813C>T	ENST00000397111.5	-	20	2231	c.1986G>A	c.(1984-1986)agG>agA	p.R662R	CARS_ENST00000380525.4_Silent_p.R745R|CARS_ENST00000470221.2_Intron|CARS_ENST00000278224.9_Silent_p.R662R|CARS_ENST00000401769.3_Silent_p.R675R|CARS_ENST00000397114.3_Silent_p.R652R			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	662					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CTTTCTTCTTCCTCTTCTCCT	0.557			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)	ENST00000397114.3				Dom	yes		11	11p15.5	833	T	cysteinyl-tRNA synthetase			L	ALK		ALCL	CARS/ALK(5)	0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31						c.(1954-1956)agG>agA		cysteinyl-tRNA synthetase	L-Cysteine(DB00151)						234	225	228					11																	3023813		2202	4298	6500	SO:0001819	synonymous_variant	833				cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding	g.chr11:3023813C>T	AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"Aminoacyl tRNA synthetases / Class I"	1493	protein-coding gene	gene with protein product	"cysteine tRNA ligase 1, cytoplasmic"	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.1986G>A	11.37:g.3023813C>T						CARS_ENST00000470221.2_Intron|CARS_ENST00000401769.3_Silent_p.R675R|CARS_ENST00000278224.9_Silent_p.R662R|CARS_ENST00000380525.4_Silent_p.R745R|CARS_ENST00000397111.5_Silent_p.R662R	p.R652R			P49589	SYCC_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	21	2332	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	662					Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Silent	SNP	ENST00000397111.5	37	c.1956G>A	CCDS7742.1																																																																																				0.557	CARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030117.4	NM_001751		46	235	0	0	0	0.00361	0	46	235					T	3023813	C	T	3023813	2	4	287	1	0	0	0	0	0	0	0	1	2657	854	30	2		2	CARS	11	3023813	Silent	SNP	C	TCGA-EM-A22O-01A-11D-A17V-08		3023813	131982703	21	6177											
BTBD10	84280	broad.mit.edu	37	chr11	13441034	13441034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acattgtatttggctgtgcaGtaaaaatggatgggtctaca	11	5	1	0			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr11:13441034G>A	ENST00000278174.5	-	4	802	c.557C>T	c.(556-558)aCt>aTt	p.T186I	BTBD10_ENST00000528120.1_Missense_Mutation_p.T138I|BTBD10_ENST00000530907.1_Missense_Mutation_p.T194I|BTBD10_ENST00000532261.1_5'Flank	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	186	BTB.|Interaction with AKT family members. {ECO:0000250|UniProtKB:Q80X66}.					nucleus (GO:0005634)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		TGGCTGTGCAGTAAAAATGGA	0.333																																						ENST00000278174.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20						c.(556-558)aCt>aTt		BTB (POZ) domain containing 10							116	120	119					11																	13441034		2200	4294	6494	SO:0001583	missense	84280					nucleus		g.chr11:13441034G>A	AY221959	CCDS7811.1, CCDS73261.1	11p15.2	2013-01-24			ENSG00000148925	ENSG00000148925		"BTB/POZ domain containing"	21445	protein-coding gene	gene with protein product		615933				15556295	Standard	XM_005253164		Approved	GMRP1, GMRP-1, MGC13007	uc001mkz.3	Q9BSF8	OTTHUMG00000165787	ENST00000278174.5:c.557C>T	11.37:g.13441034G>A	ENSP00000278174:p.Thr186Ile					BTBD10_ENST00000530907.1_Missense_Mutation_p.T194I|BTBD10_ENST00000528120.1_Missense_Mutation_p.T138I	p.T186I	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN		Epithelial(150;0.0214)	4	802	-			186			BTB.		B7Z228|Q86WG1	Missense_Mutation	SNP	ENST00000278174.5	37	c.557C>T	CCDS7811.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832572	0.71258	.	.	ENSG00000148925	ENST00000278174;ENST00000530907;ENST00000528120	D;D;D	0.81821	-1.54;-1.54;-1.54	5.42	5.42	0.78866	BTB/POZ-like (1);BTB/POZ fold (2);	0.047168	0.85682	D	0.000000	T	0.80042	0.4551	L	0.56340	1.77	0.80722	D	1	B;B;B;B	0.22480	0.008;0.07;0.023;0.023	B;B;B;B	0.27715	0.018;0.082;0.028;0.028	T	0.76822	-0.2817	10	0.56958	D	0.05	-62.6954	18.8084	0.92048	0.0:0.0:1.0:0.0	.	155;194;186;186	B7Z2J1;B7Z228;D3DQW7;Q9BSF8	.;.;.;BTBDA_HUMAN	I	186;194;138	ENSP00000278174:T186I;ENSP00000431186:T194I;ENSP00000435257:T138I	ENSP00000278174:T186I	T	-	2	0	BTBD10	13397610	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.856000	0.86956	2.534000	0.85438	0.650000	0.86243	ACT		0.333	BTBD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386200.1	NM_032320		3	55	0	0	0	0.004672	0	3	55					A	13441034	G	A	13441034	3	1	287	1	0	0	0	0	1	0	0	0	1538	1029	36	2	894	2	BTBD10	11	13441034	Missense_Mutation	SNP	G	TCGA-EM-A22O-01A-11D-A17V-08	10417221	13441034	121565482	22	6178											
ATM	472	broad.mit.edu	37	chr11	108190727	108190727	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atgaatcattgtacaatgctCtacaatctctaagagacaga	6	8	3	3	rs551408889		TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr11:108190727C>G	ENST00000452508.2	+	45	6583	c.6394C>G	c.(6394-6396)Cta>Gta	p.L2132V	ATM_ENST00000278616.4_Missense_Mutation_p.L2132V|C11orf65_ENST00000525729.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2132	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GTACAATGCTCTACAATCTCT	0.299			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(6394-6396)Cta>Gta	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							95	101	99					11																	108190727		2201	4292	6493	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108190727C>G	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.6394C>G	11.37:g.108190727C>G	ENSP00000388058:p.Leu2132Val	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Missense_Mutation_p.L2132V|C11orf65_ENST00000525729.1_Intron	p.L2132V	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	44	6779	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2132			FAT.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.6394C>G	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.701631	0.30142	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.70399	-0.48;-0.48	5.59	3.6	0.41247	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-type fold (1);	0.066388	0.64402	D	0.000008	T	0.58061	0.2096	L	0.41415	1.275	0.80722	D	1	B	0.16603	0.018	B	0.24974	0.057	T	0.52396	-0.8581	10	0.31617	T	0.26	.	6.5819	0.22598	0.0:0.6885:0.1445:0.1669	.	2132	Q13315	ATM_HUMAN	V	2132	ENSP00000278616:L2132V;ENSP00000388058:L2132V	ENSP00000278616:L2132V	L	+	1	2	ATM	107695937	1.000000	0.71417	0.983000	0.44433	0.852000	0.48524	1.534000	0.36051	1.236000	0.43740	0.655000	0.94253	CTA		0.299	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		29	50	0	0	0	0.001786	0	29	50					G	108190727	C	G	108190727	3	3	287	1	0	0	0	0	1	0	0	0	1109	912	32	4	6564	4	ATM	11	108190727	Missense_Mutation	SNP	C	TCGA-EM-A22O-01A-11D-A17V-08	94749693	108190727	26815789	23	6179											
CACNA2D4	93589	broad.mit.edu	37	chr12	1949958	1949958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccacagctgtgcttgccGtcaccaccatgggttcaccc	9	18	2	0	rs532757608	byFrequency	TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr12:1949958G>A	ENST00000382722.5	-	26	2860	c.2498C>T	c.(2497-2499)aCg>aTg	p.T833M	CACNA2D4_ENST00000586184.1_Missense_Mutation_p.T833M|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.T769M|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.T694M|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.T769M|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.T808M	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	833					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TGTGCTTGCCGTCACCACCAT	0.597													G|||	2	0.000399361	0.0015	0	5008	,	,		15574	0		0	False		,,,				2504	0				Colon(2;101 179 21030 23310 28141)	ENST00000382722.5																			0				endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(2497-2499)aCg>aTg		calcium channel, voltage-dependent, alpha 2/delta subunit 4							79	85	83					12																	1949958		2127	4234	6361	SO:0001583	missense	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:1949958G>A	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"Calcium channel subunits"	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.2498C>T	12.37:g.1949958G>A	ENSP00000372169:p.Thr833Met					CACNA2D4_ENST00000587995.1_Missense_Mutation_p.T808M|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.T694M|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.T769M|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.T833M|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.T769M	p.T833M	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	26	2860	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	833					Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	c.2498C>T	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801911	0.50315	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.69306	-0.39	4.71	3.79	0.43588	.	0.446483	0.23977	N	0.042708	T	0.75459	0.3852	M	0.84948	2.725	0.32370	N	0.556024	D;D	0.60575	0.988;0.981	P;P	0.51974	0.686;0.482	T	0.80677	-0.1276	10	0.34782	T	0.22	.	11.995	0.53196	0.0:0.1832:0.8168:0.0	.	833;833	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	M	769;833;833	ENSP00000372169:T833M	ENSP00000280663:T833M	T	-	2	0	CACNA2D4	1820219	1.000000	0.71417	0.015000	0.15790	0.525000	0.34531	5.233000	0.65337	1.060000	0.40578	0.561000	0.74099	ACG		0.597	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			37	37	0	0	0	0.00623	0	37	37					A	1949958	G	A	1949958	3	1	287	1	0	0	0	0	1	0	0	0	2551	1145	40	1	967	1	CACNA2D4	12	1949958	Missense_Mutation	SNP	G	TCGA-EM-A22O-01A-11D-A17V-08		1949958	131901937	24	6180											
NAP1L1	4673	broad.mit.edu	37	chr12	76444373	76444373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgatcttgggattatacGctcacgtaaaaagtgaccaa	8	9	2	2			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr12:76444373G>A	ENST00000261182.8	-	12	1483	c.997C>T	c.(997-999)Cgt>Tgt	p.R333C	NAP1L1_ENST00000535020.2_Missense_Mutation_p.R333C|NAP1L1_ENST00000431879.3_Missense_Mutation_p.R265C|NAP1L1_ENST00000393263.3_Missense_Mutation_p.R333C|NAP1L1_ENST00000547773.1_Missense_Mutation_p.R270C|NAP1L1_ENST00000544816.1_Missense_Mutation_p.R150C|NAP1L1_ENST00000552342.1_Missense_Mutation_p.R344C|NAP1L1_ENST00000547993.1_Missense_Mutation_p.R150C|NAP1L1_ENST00000548044.1_Missense_Mutation_p.R292C|NAP1L1_ENST00000542344.1_Missense_Mutation_p.R291C|NAP1L1_ENST00000549596.1_Missense_Mutation_p.R333C	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	333					DNA replication (GO:0006260)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				GGGATTATACGCTCACGTAAA	0.343																																						ENST00000261182.8																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9						c.(997-999)Cgt>Tgt		nucleosome assembly protein 1-like 1							77	74	75					12																	76444373		2203	4300	6503	SO:0001583	missense	4673				DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding	g.chr12:76444373G>A		CCDS9013.1	12q21.1	2010-03-17			ENSG00000187109	ENSG00000187109			7637	protein-coding gene	gene with protein product		164060				8297347	Standard	NM_004537		Approved	NRP, NAP1, NAP1L, MGC8688, MGC23410	uc001sxx.2	P55209		ENST00000261182.8:c.997C>T	12.37:g.76444373G>A	ENSP00000261182:p.Arg333Cys					NAP1L1_ENST00000547773.1_Missense_Mutation_p.R270C|NAP1L1_ENST00000544816.1_Missense_Mutation_p.R150C|NAP1L1_ENST00000542344.1_Missense_Mutation_p.R291C|NAP1L1_ENST00000535020.2_Missense_Mutation_p.R333C|NAP1L1_ENST00000431879.3_Missense_Mutation_p.R265C|NAP1L1_ENST00000393263.3_Missense_Mutation_p.R333C|NAP1L1_ENST00000547993.1_Missense_Mutation_p.R150C|NAP1L1_ENST00000548044.1_Missense_Mutation_p.R292C|NAP1L1_ENST00000549596.1_Missense_Mutation_p.R333C|NAP1L1_ENST00000552342.1_Missense_Mutation_p.R344C	p.R333C	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN			12	1483	-		Colorectal(145;0.09)	333					B3KNT8	Missense_Mutation	SNP	ENST00000261182.8	37	c.997C>T	CCDS9013.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.687893	0.68271	.	.	ENSG00000187109	ENST00000261182;ENST00000552056;ENST00000393263;ENST00000431879;ENST00000547773;ENST00000544816;ENST00000542344;ENST00000535020;ENST00000549596;ENST00000547993;ENST00000552342;ENST00000548044	T;T;T;T;T;T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85	5.65	5.65	0.86999	.	0.048459	0.85682	N	0.000000	T	0.49864	0.1582	L	0.49455	1.56	0.80722	D	1	B;B;B;B;B;B;B	0.33413	0.124;0.411;0.144;0.174;0.051;0.215;0.389	B;B;B;B;B;B;B	0.36244	0.092;0.12;0.068;0.12;0.22;0.1;0.083	T	0.52465	-0.8572	10	0.87932	D	0	.	19.7278	0.96172	0.0:0.0:1.0:0.0	.	333;291;344;333;265;270;333	F5H4R6;B7Z9C2;F8W0J6;B3KNT8;B3KV44;F8W543;P55209	.;.;.;.;.;.;NP1L1_HUMAN	C	333;327;333;265;270;150;291;333;333;150;344;292	ENSP00000261182:R333C;ENSP00000450236:R327C;ENSP00000376947:R333C;ENSP00000409795:R265C;ENSP00000448167:R270C;ENSP00000437507:R150C;ENSP00000444759:R291C;ENSP00000445008:R333C;ENSP00000447793:R333C;ENSP00000448007:R150C;ENSP00000447196:R344C;ENSP00000449649:R292C	ENSP00000261182:R333C	R	-	1	0	NAP1L1	74730640	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.626000	0.74253	2.656000	0.90262	0.591000	0.81541	CGT		0.343	NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405850.3	NM_139207		15	20	0	0	0	0.00245	0	15	20					A	76444373	G	A	76444373	3	1	287	1	0	0	0	0	1	0	0	0	10156	1087	38	1	194	1	NAP1L1	12	76444373	Missense_Mutation	SNP	G	TCGA-EM-A22O-01A-11D-A17V-08	74494415	76444373	57407522	25	6181											
ATXN2	6311	broad.mit.edu	37	chr12	111893961	111893961	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgtgttggaggcaggtgTcatggagggtggagttggcg	21	5	1	0	rs376508232		TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr12:111893961T>A	ENST00000377617.3	-	23	3777	c.3616A>T	c.(3616-3618)Aca>Tca	p.T1206S	ATXN2_ENST00000389153.4_Missense_Mutation_p.T943S|ATXN2_ENST00000542287.2_Missense_Mutation_p.T941S|ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000608853.1_Missense_Mutation_p.T1046S|ATXN2_ENST00000535949.1_Missense_Mutation_p.T899S	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1206					cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						GAGGCAGGTGTCATGGAGGGT	0.587																																						ENST00000377617.3																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3616-3618)Aca>Tca		ataxin 2							311	272	285					12																	111893961		2203	4300	6503	SO:0001583	missense	6311				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	g.chr12:111893961T>A	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"Ataxins"	10555	protein-coding gene	gene with protein product	"trinucleotide repeat containing 13"	601517	"spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.3616A>T	12.37:g.111893961T>A	ENSP00000366843:p.Thr1206Ser					ATXN2_ENST00000542287.2_Missense_Mutation_p.T941S|ATXN2_ENST00000535949.1_Missense_Mutation_p.T899S|ATXN2_ENST00000389153.4_Missense_Mutation_p.T943S|ATXN2_ENST00000550104.1_3'UTR	p.T1206S	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN			23	3777	-			1206					A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	ENST00000377617.3	37	c.3616A>T	CCDS31902.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.151881	0.78001	.	.	ENSG00000204842	ENST00000389154;ENST00000389153;ENST00000377617;ENST00000482777;ENST00000542287;ENST00000535949;ENST00000550844	T	0.70282	-0.47	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.72162	0.3426	N	0.24115	0.695	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.997;0.993;0.999;0.998	D;D;D;D;D	0.80764	0.987;0.97;0.956;0.994;0.987	T	0.66316	-0.5954	10	0.07325	T	0.83	-11.9859	16.4101	0.83708	0.0:0.0:0.0:1.0	.	207;1206;899;941;943	Q99700-3;Q99700;Q24JQ7;F8VQP2;F8WB06	.;ATX2_HUMAN;.;.;.	S	261;943;1206;207;941;899;131	ENSP00000366843:T1206S	ENSP00000366843:T1206S	T	-	1	0	ATXN2	110378344	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.345000	0.79337	2.280000	0.76307	0.460000	0.39030	ACA		0.587	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		98	126	0	0	0	0.00361	0	98	126					A	111893961	T	A	111893961	3	1	287	1	0	0	0	0	1	0	0	0	1211	1667	58	5	337	5	ATXN2	12	111893961	Missense_Mutation	SNP	T	TCGA-EM-A22O-01A-11D-A17V-08	35449588	111893961	21957934	26	6182											
OR11H12	440153	broad.mit.edu	37	chr14	19378084	19378084	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaactggtcatactgtgctGggtttgtggatttctgtggt	13	6	2	0			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr14:19378084G>T	ENST00000550708.1	+	1	563	c.491G>T	c.(490-492)tGg>tTg	p.W164L		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	164						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)		ATACTGTGCTGGGTTTGTGGA	0.488																																						ENST00000550708.1																			0				NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(490-492)tGg>tTg		olfactory receptor, family 11, subfamily H, member 12							149	163	159					14																	19378084		2201	4294	6495	SO:0001583	missense	440153				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:19378084G>T		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.491G>T	14.37:g.19378084G>T	ENSP00000449002:p.Trp164Leu						p.W164L	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	563	+	all_cancers(95;0.00108)		164						Missense_Mutation	SNP	ENST00000550708.1	37	c.491G>T	CCDS32017.1	.	.	.	.	.	.	.	.	.	.	g	11.88	1.770733	0.31320	.	.	ENSG00000257115	ENST00000550708	T	0.58210	0.35	0.585	0.585	0.17428	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37178	U	0.002208	T	0.68924	0.3054	M	0.85630	2.765	0.26265	N	0.978514	D	0.89917	1.0	D	0.97110	1.0	T	0.74352	-0.3693	9	0.66056	D	0.02	.	7.1009	0.25336	1.0E-4:0.0:0.9999:0.0	.	164	B2RN74	O11HC_HUMAN	L	164	ENSP00000449002:W164L	ENSP00000449002:W164L	W	+	2	0	CR383656.1	18448084	0.134000	0.22483	0.963000	0.40424	0.194000	0.23727	1.020000	0.30027	0.619000	0.30197	0.064000	0.15345	TGG		0.488	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		19	123	1	0	3.83957e-06	0.00278	5.11943e-06	19	123					T	19378084	G	T	19378084	3	4	287	1	0	0	0	0	1	0	0	0	10927	1357	47	4	493	4	OR11H12	14	19378084	Missense_Mutation	SNP	G	TCGA-EM-A22O-01A-11D-A17V-08		19378084	87971456	27	6183											
C14orf106	55320	broad.mit.edu	37	chr14	45693947	45693947	+	Frame_Shift_Del	DEL	T	T	-													tacatccaattcttcagttgTctctttaatttcataagaca							TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr14:45693947delT	ENST00000310806.4	-	11	2301	c.1843delA	c.(1843-1845)acafs	p.T616fs		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	616					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TCTTCAGTTGTCTCTTTAATT	0.294																																						ENST00000310806.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						c.(1843-1845)cafs		MIS18 binding protein 1							39	40	40					14																	45693947		2197	4295	6492	SO:0001589	frameshift_variant	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45693947delT	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"kinetochore null 2 homolog (C. elegans)"		"chromosome 14 open reading frame 106"	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.1843delA	14.37:g.45693947delT	ENSP00000309790:p.Thr616fs						p.T616fs	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN			11	2301	-			616					D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Frame_Shift_Del	DEL	ENST00000310806.4	37	c.1843delA	CCDS9684.1																																																																																				0.294	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			25	19						25	19	---	---	---	---	-	45693947	T	-	45693947	7	5	287	1	0	1	0	1	0	0	0	0	1738	1667	58	0	1583	0	C14orf106	14	45693947	Frame_Shift_Del	DEL	T	TCGA-EM-A22O-01A-11D-A17V-08	26315863	45693947	61655593	28	6184											
MAP1A	4130	broad.mit.edu	37	chr15	43815344	43815344	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cacaggactaggagataagcCattccctctagacactgcag	9	12	1	2			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr15:43815344C>G	ENST00000300231.5	+	4	2123	c.1673C>G	c.(1672-1674)cCa>cGa	p.P558R	MAP1A_ENST00000382031.1_Missense_Mutation_p.P796R|MAP1A_ENST00000399453.1_Missense_Mutation_p.P558R			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	558					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGAGATAAGCCATTCCCTCTA	0.537																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(2386-2388)cCa>cGa		microtubule-associated protein 1A	Estramustine(DB01196)						72	75	74					15																	43815344		2064	4210	6274	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43815344C>G	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.1673C>G	15.37:g.43815344C>G	ENSP00000300231:p.Pro558Arg					MAP1A_ENST00000399453.1_Missense_Mutation_p.P558R|MAP1A_ENST00000300231.5_Missense_Mutation_p.P558R	p.P796R			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	2418	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	558					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.2387C>G	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.660648	0.00772	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231;ENST00000442025	T;T;T	0.46063	0.88;0.88;0.88	4.85	2.98	0.34508	.	.	.	.	.	T	0.33585	0.0868	M	0.63428	1.95	0.09310	N	1	B	0.28178	0.202	B	0.24701	0.055	T	0.26608	-1.0098	9	0.15499	T	0.54	0.1456	4.852	0.13542	0.1505:0.6042:0.0:0.2453	.	558	P78559	MAP1A_HUMAN	R	796;558;558;558	ENSP00000371462:P796R;ENSP00000382380:P558R;ENSP00000300231:P558R	ENSP00000300231:P558R	P	+	2	0	MAP1A	41602636	0.001000	0.12720	0.071000	0.20095	0.001000	0.01503	1.602000	0.36783	0.643000	0.30638	-0.229000	0.12294	CCA		0.537	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		53	48	0	0	0	0.00361	0	53	48					G	43815344	C	G	43815344	3	3	287	1	0	0	0	0	1	0	0	0	9227	594	21	4	1675	4	MAP1A	15	43815344	Missense_Mutation	SNP	C	TCGA-EM-A22O-01A-11D-A17V-08		43815344	58716048	29	6185											
CCPG1	9236	broad.mit.edu	37	chr15	55664157	55664157	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagaaacggtcttcttcctAgcacggcgtcgtctaaaggc	11	12	3	1			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr15:55664157A>G	ENST00000310958.6	-	6	838	c.540T>C	c.(538-540)gcT>gcC	p.A180A	MIR628_ENST00000385229.1_RNA|CCPG1_ENST00000569205.1_Silent_p.A180A|CCPG1_ENST00000425574.3_Silent_p.A180A|CCPG1_ENST00000442196.3_Silent_p.A180A|DYX1C1-CCPG1_ENST00000565113.1_RNA	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	180	Interaction with MCF2L and SRC. {ECO:0000250}.|Poly-Arg.				cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TCTTCTTCCTAGCACGGCGTC	0.433																																						ENST00000310958.6																			0				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30						c.(538-540)gcT>gcC		cell cycle progression 1							86	81	82					15																	55664157		1862	4104	5966	SO:0001819	synonymous_variant	9236				cell cycle	integral to membrane		g.chr15:55664157A>G	AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.540T>C	15.37:g.55664157A>G						CCPG1_ENST00000425574.3_Silent_p.A180A|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_Silent_p.A180A|CCPG1_ENST00000569205.1_Silent_p.A180A	p.A180A	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN		all cancers(107;0.0354)	6	838	-			180			Interaction with MCF2L and SRC (By similarity).|Poly-Arg.		A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Silent	SNP	ENST00000310958.6	37	c.540T>C	CCDS42039.1																																																																																				0.433	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748		3	46	0	0	0	0.000248	0	3	46					G	55664157	A	G	55664157	2	3	287	1	0	0	0	0	0	0	0	1	2938	407	15	3		3	CCPG1	15	55664157	Silent	SNP	A	TCGA-EM-A22O-01A-11D-A17V-08	11848813	55664157	46867235	30	6186											
DNAH3	55567	broad.mit.edu	37	chr16	20975172	20975172	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcaatgatgtacttgatgCgcagattcagttcctcgctc	10	10	2	3			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr16:20975172C>T	ENST00000261383.3	-	53	10033	c.10034G>A	c.(10033-10035)cGc>cAc	p.R3345H	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3345					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)		GTACTTGATGCGCAGATTCAG	0.488																																						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.(10033-10035)cGc>cAc		dynein, axonemal, heavy chain 3							173	132	146					16																	20975172		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20975172C>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.10034G>A	16.37:g.20975172C>T	ENSP00000261383:p.Arg3345His					DNAH3_ENST00000415178.1_3'UTR	p.R3345H	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	10033	-			3345					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.10034G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.867581	0.51588	.	.	ENSG00000158486	ENST00000261383	T	0.76968	-1.06	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.91476	0.7309	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92741	0.6208	10	0.87932	D	0	.	20.0137	0.97470	0.0:1.0:0.0:0.0	.	3345	Q8TD57	DYH3_HUMAN	H	3345	ENSP00000261383:R3345H	ENSP00000261383:R3345H	R	-	2	0	DNAH3	20882673	1.000000	0.71417	0.157000	0.22605	0.008000	0.06430	7.818000	0.86416	2.734000	0.93682	0.563000	0.77884	CGC		0.488	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		52	86	0	0	0	0.00361	0	52	86					T	20975172	C	T	20975172	3	4	287	1	0	0	0	0	1	0	0	0	4603	768	27	1	2355	1	DNAH3	16	20975172	Missense_Mutation	SNP	C	TCGA-EM-A22O-01A-11D-A17V-08		20975172	69379581	31	6187											
LCMT1	51451	broad.mit.edu	37	chr16	25182127	25182127	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgagctgaagtgagcagGtatggggttggtgagcgtca	17	7	1	3			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr16:25182127G>A	ENST00000399069.3	+	9	1039		c.e9+1		LCMT1_ENST00000572869.1_Intron|LCMT1_ENST00000380966.4_Splice_Site	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1						C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	AAGTGAGCAGGTATGGGGTTG	0.473																																					Colon(200;565 2072 24396 47922 50898)	ENST00000399069.3																			0											c.e9+1		leucine carboxyl methyltransferase 1	L-Leucine(DB00149)						138	139	139					16																	25182127		2025	4191	6216	SO:0001630	splice_region_variant	51451						protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity	g.chr16:25182127G>A	AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"protein phosphatase methyltransferase 1"	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.884+1G>A	16.37:g.25182127G>A						LCMT1_ENST00000380966.4_Splice_Site|LCMT1_ENST00000572869.1_Intron		NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN		GBM - Glioblastoma multiforme(48;0.0336)	9	1039	+								A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Splice_Site	SNP	ENST00000399069.3	37		CCDS45445.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818652	0.71028	.	.	ENSG00000205629	ENST00000399069;ENST00000380966;ENST00000380962	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3732	0.90420	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LCMT1	25089628	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	7.621000	0.83083	2.941000	0.99782	0.655000	0.94253	.		0.473	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435747.4	NM_016309	Intron	32	54	0	0	0	0.002096	0	32	54					A	25182127	G	A	25182127	5	1	287	1	0	0	0	0	0	0	1	0	8678	1275	44	2	919	2	LCMT1	16	25182127	Splice_Site	SNP	G	TCGA-EM-A22O-01A-11D-A17V-08	4206955	25182127	65172626	32	6188											
KIAA1632	57724	broad.mit.edu	37	chr18	43519707	43519707	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccaatggtcacttacaTaaccaagagtcatcctgagc	8	12	2	2			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr18:43519707T>C	ENST00000282041.5	-	10	1992	c.1958A>G	c.(1957-1959)tAt>tGt	p.Y653C		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	653					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GTCACTTACATAACCAAGAGT	0.388																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(1957-1959)tAt>tGt		ectopic P-granules autophagy protein 5 homolog (C. elegans)							80	72	75					18																	43519707		1899	4125	6024	SO:0001583	missense	57724				autophagy			g.chr18:43519707T>C	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.1958A>G	18.37:g.43519707T>C	ENSP00000282041:p.Tyr653Cys						p.Y653C	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			10	1992	-			653					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.1958A>G	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	T	14.35	2.508932	0.44660	.	.	ENSG00000152223	ENST00000282041	T	0.13420	2.59	5.4	5.4	0.78164	.	0.768841	0.12691	N	0.447191	T	0.36853	0.0982	M	0.63843	1.955	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.73380	0.961;0.98	T	0.03483	-1.1032	10	0.87932	D	0	-13.4881	15.423	0.75028	0.0:0.0:0.0:1.0	.	653;653	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	C	653	ENSP00000282041:Y653C	ENSP00000282041:Y653C	Y	-	2	0	EPG5	41773705	1.000000	0.71417	1.000000	0.80357	0.052000	0.14988	7.318000	0.79029	2.037000	0.60232	0.379000	0.24179	TAT		0.388	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		9	25	0	0	0	0.004482	0	9	25					C	43519707	T	C	43519707	3	2	287	1	0	0	0	0	1	0	0	0	8249	1406	49	3	5921	3	KIAA1632	18	43519707	Missense_Mutation	SNP	T	TCGA-EM-A22O-01A-11D-A17V-08		43519707	34557541	33	6189											
ZNF532	55205	broad.mit.edu	37	chr18	56587101	56587101	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcaccttgccaaccttAaccttttgcctcagggtgcc	8	15	1	0			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr18:56587101A>T	ENST00000336078.4	+	4	2358	c.1582A>T	c.(1582-1584)Aac>Tac	p.N528Y	ZNF532_ENST00000591808.1_Missense_Mutation_p.N528Y|ZNF532_ENST00000591083.1_Missense_Mutation_p.N528Y|ZNF532_ENST00000589288.1_Missense_Mutation_p.N528Y|ZNF532_ENST00000591230.1_Missense_Mutation_p.N528Y	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	528					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(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TGCCAACCTTAACCTTTTGCC	0.542																																						ENST00000336078.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						c.(1582-1584)Aac>Tac		zinc finger protein 532							40	36	37					18																	56587101		2203	4300	6503	SO:0001583	missense	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56587101A>T	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"Zinc fingers, C2H2-type"	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.1582A>T	18.37:g.56587101A>T	ENSP00000338217:p.Asn528Tyr					ZNF532_ENST00000591230.1_Missense_Mutation_p.N528Y|ZNF532_ENST00000591083.1_Missense_Mutation_p.N528Y|ZNF532_ENST00000589288.1_Missense_Mutation_p.N528Y|ZNF532_ENST00000591808.1_Missense_Mutation_p.N528Y	p.N528Y	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN			4	2358	+			528					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	ENST00000336078.4	37	c.1582A>T	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	-	15.70	2.911193	0.52439	.	.	ENSG00000074657	ENST00000336078	T	0.01902	4.57	5.6	5.6	0.85130	.	0.046631	0.85682	D	0.000000	T	0.10165	0.0249	M	0.63843	1.955	0.49483	D	0.999799	D	0.76494	0.999	D	0.66196	0.942	T	0.00503	-1.1701	10	0.87932	D	0	-39.3616	14.8516	0.70300	1.0:0.0:0.0:0.0	.	528	Q9HCE3	ZN532_HUMAN	Y	528	ENSP00000338217:N528Y	ENSP00000338217:N528Y	N	+	1	0	ZNF532	54738081	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.224000	0.72265	2.151000	0.67156	0.445000	0.29226	AAC		0.542	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		4	45	0	0	0	0.000602	0	4	45					T	56587101	A	T	56587101	3	4	287	1	0	0	0	0	1	0	0	0	17969	362	13	5	1584	5	ZNF532	18	56587101	Missense_Mutation	SNP	A	TCGA-EM-A22O-01A-11D-A17V-08	13067394	56587101	21490147	34	6190											
CDH19	28513	broad.mit.edu	37	chr18	64197108	64197108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcctgcattttcacaaaCataagtctcatagtattgag	7	8	2	2			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr18:64197108C>T	ENST00000540086.1	-	9	1678	c.1432G>A	c.(1432-1434)Gtt>Att	p.V478I	CDH19_ENST00000262150.2_Missense_Mutation_p.V478I	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	587	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TTTTCACAAACATAAGTCTCA	0.328																																						ENST00000262150.2																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61						c.(1432-1434)Gtt>Att		cadherin 19, type 2							120	118	119					18																	64197108		2203	4300	6503	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64197108C>T	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"Cadherins / Major cadherins"	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.1432G>A	18.37:g.64197108C>T	ENSP00000439593:p.Val478Ile					CDH19_ENST00000540086.1_Missense_Mutation_p.V478I	p.V478I	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN			9	1724	-		Esophageal squamous(42;0.0132)	478			Cadherin 5.		O15098	Missense_Mutation	SNP	ENST00000540086.1	37	c.1432G>A	CCDS59325.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033732	0.35893	.	.	ENSG00000071991	ENST00000262150;ENST00000540086	T;T	0.58652	0.6;0.32	5.53	4.66	0.58398	Cadherin (3);Cadherin-like (1);	0.121482	0.56097	N	0.000030	T	0.72867	0.3514	M	0.71206	2.165	0.38122	D	0.937896	P;D	0.89917	0.955;1.0	P;D	0.91635	0.671;0.999	T	0.74973	-0.3481	10	0.35671	T	0.21	.	13.0679	0.59045	0.0:0.921:0.0:0.079	.	478;478	F5H1K0;Q9H159	.;CAD19_HUMAN	I	478	ENSP00000262150:V478I;ENSP00000439593:V478I	ENSP00000262150:V478I	V	-	1	0	CDH19	62348088	0.990000	0.36364	0.924000	0.36721	0.984000	0.73092	2.675000	0.46875	1.339000	0.45563	0.650000	0.86243	GTT		0.328	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153		27	27	0	0	0	0.002445	0	27	27					T	64197108	C	T	64197108	3	4	287	1	0	0	0	0	1	0	0	0	3104	478	17	2	902	2	CDH19	18	64197108	Missense_Mutation	SNP	C	TCGA-EM-A22O-01A-11D-A17V-08	7610007	64197108	13880140	35	6191											
C19orf35	374872	broad.mit.edu	37	chr19	2276472	2276472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacgggtggggcacgtccGccccgggcttgggcacctgc	16	17	0	0			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr19:2276472G>A	ENST00000342063.3	-	4	722	c.629C>T	c.(628-630)gCg>gTg	p.A210V		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	210								p.A210E(1)		large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				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)		GGGCACGTCCGCCCCGGGCTT	0.706																																						ENST00000342063.3																			1	Substitution - Missense(1)	p.A210E(1)	lung(1)	large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8						c.(628-630)gCg>gTg		chromosome 19 open reading frame 35							7	9	8					19																	2276472		1946	3753	5699	SO:0001583	missense	374872							g.chr19:2276472G>A	AK127680	CCDS12087.1	19p13.3	2012-10-26			ENSG00000188305	ENSG00000188305			24793	protein-coding gene	gene with protein product							Standard	NM_198532		Approved	FLJ45778	uc002lvn.2	Q6ZS72	OTTHUMG00000178460	ENST00000342063.3:c.629C>T	19.37:g.2276472G>A	ENSP00000345102:p.Ala210Val						p.A210V	NM_198532.2	NP_940934.1	Q6ZS72	CS035_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)	4	722	-			210						Missense_Mutation	SNP	ENST00000342063.3	37	c.629C>T	CCDS12087.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.003843	0.35320	.	.	ENSG00000188305	ENST00000342063	T	0.15139	2.45	2.82	1.76	0.24704	.	.	.	.	.	T	0.11750	0.0286	L	0.50333	1.59	0.09310	N	1	P	0.36974	0.576	B	0.20955	0.032	T	0.17048	-1.0382	9	0.42905	T	0.14	.	6.4182	0.21728	0.1485:0.0:0.8515:0.0	.	210	Q6ZS72	CS035_HUMAN	V	210	ENSP00000345102:A210V	ENSP00000345102:A210V	A	-	2	0	C19orf35	2227472	0.002000	0.14202	0.004000	0.12327	0.285000	0.27093	1.153000	0.31676	0.381000	0.24851	0.561000	0.74099	GCG		0.706	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442080.1	NM_198532		4	22	0	0	0	0.000248	0	4	22					A	2276472	G	A	2276472	3	1	287	1	0	0	0	0	1	0	0	0	1920	1087	38	1	796	1	C19orf35	19	2276472	Missense_Mutation	SNP	G	TCGA-EM-A22O-01A-11D-A17V-08		2276472	56852511	36	6192											
CYP4F11	57834	broad.mit.edu	37	chr19	16038119	16038119	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccgacggtggcggctccacTtgtcaccaccactcagcagg	11	16	2	0			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr19:16038119T>C	ENST00000402119.4	-	4	854	c.428A>G	c.(427-429)aAg>aGg	p.K143R	CYP4F11_ENST00000326742.8_Missense_Mutation_p.K143R|CYP4F11_ENST00000248041.8_Missense_Mutation_p.K143R|CYP4F11_ENST00000591841.1_5'UTR	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GCGGCTCCACTTGTCACCACC	0.537																																						ENST00000326742.7																			0				NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						c.(427-429)aAg>aGg		cytochrome P450, family 4, subfamily F, polypeptide 11							86	86	86					19																	16038119		2203	4300	6503	SO:0001583	missense	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16038119T>C	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"Cytochrome P450s"	13265	protein-coding gene	gene with protein product		611517	"cytochrome P450, subfamily IVF, polypeptide 11"			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.428A>G	19.37:g.16038119T>C	ENSP00000384588:p.Lys143Arg					CYP4F11_ENST00000402119.3_Missense_Mutation_p.K143R|CYP4F11_ENST00000248041.7_Missense_Mutation_p.K143R	p.K143R			Q9HBI6	CP4FB_HUMAN			4	429	-			143						Missense_Mutation	SNP	ENST00000402119.4	37	c.428A>G	CCDS12337.1	.	.	.	.	.	.	.	.	.	.	t	14.90	2.674288	0.47781	.	.	ENSG00000171903	ENST00000402119;ENST00000248041;ENST00000326742	T;T;T	0.68331	-0.32;-0.32;-0.32	2.57	2.57	0.30868	.	0.247626	0.31301	U	0.007900	T	0.75354	0.3838	M	0.78049	2.395	0.30838	N	0.735966	D;P	0.53885	0.963;0.828	P;P	0.58780	0.845;0.737	T	0.75230	-0.3391	10	0.66056	D	0.02	.	8.6566	0.34066	0.0:0.0:0.0:1.0	.	143;143	F8W978;Q9HBI6	.;CP4FB_HUMAN	R	143	ENSP00000384588:K143R;ENSP00000248041:K143R;ENSP00000319859:K143R	ENSP00000248041:K143R	K	-	2	0	CYP4F11	15899119	0.940000	0.31905	1.000000	0.80357	0.559000	0.35586	1.132000	0.31418	1.178000	0.42870	0.248000	0.18094	AAG		0.537	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		69	73	0	0	0	0.00361	0	69	73					C	16038119	T	C	16038119	3	2	287	1	0	0	0	0	1	0	0	0	4186	1609	56	3	1182	3	CYP4F11	19	16038119	Missense_Mutation	SNP	T	TCGA-EM-A22O-01A-11D-A17V-08	13761647	16038119	43090864	37	6193											
U2AF2	11338	broad.mit.edu	37	chr19	56166505	56166505	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgagttcgagcggcagctcaAcgagaataaacaaggtgagg	14	8	1	2			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr19:56166505A>G	ENST00000308924.4	+	1	75	c.35A>G	c.(34-36)aAc>aGc	p.N12S	U2AF2_ENST00000450554.2_Missense_Mutation_p.N12S			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	12	Required for interaction with PRPF19. {ECO:0000269|PubMed:21536736}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CGGCAGCTCAACGAGAATAAA	0.682																																						ENST00000450554.2																			0				biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21						c.(34-36)aAc>aGc		U2 small nuclear RNA auxiliary factor 2							20	27	24					19																	56166505		2193	4277	6470	SO:0001583	missense	11338				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding	g.chr19:56166505A>G	BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"RNA binding motif (RRM) containing"	23156	protein-coding gene	gene with protein product	"U2 small nuclear ribonucleoprotein auxiliary factor (65kD)", "splicing factor U2AF 65 kD subunit", "U2 snRNP auxiliary factor large subunit"	191318	"U2 (RNU2) small nuclear RNA auxiliary factor 2"			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.35A>G	19.37:g.56166505A>G	ENSP00000307863:p.Asn12Ser					U2AF2_ENST00000308924.4_Missense_Mutation_p.N12S	p.N12S	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	1	994	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	12					Q96HC5	Missense_Mutation	SNP	ENST00000308924.4	37	c.35A>G	CCDS12933.1	.	.	.	.	.	.	.	.	.	.	A	3.081	-0.189060	0.06299	.	.	ENSG00000063244	ENST00000308924;ENST00000450554	T;T	0.08984	3.03;3.05	3.58	3.58	0.41010	.	0.148244	0.41396	D	0.000887	T	0.02533	0.0077	N	0.01168	-0.975	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.38735	-0.9647	10	0.07030	T	0.85	-16.5984	11.6025	0.51012	1.0:0.0:0.0:0.0	.	12;12	P26368;P26368-2	U2AF2_HUMAN;.	S	12	ENSP00000307863:N12S;ENSP00000388475:N12S	ENSP00000307863:N12S	N	+	2	0	U2AF2	60858317	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	3.152000	0.50677	1.639000	0.50556	0.402000	0.26972	AAC		0.682	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453599.1	NM_007279		8	34	0	0	0	0.006214	0	8	34					G	56166505	A	G	56166505	3	3	287	1	0	0	0	0	1	0	0	0	16820	43	2	3	37	3	U2AF2	19	56166505	Missense_Mutation	SNP	A	TCGA-EM-A22O-01A-11D-A17V-08	40128386	56166505	2962478	38	6194											
NLRP8	126205	broad.mit.edu	37	chr19	56467090	56467090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagctatctctctcacatgGgacttttcttattcggtttt	6	9	3	0			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr19:56467090G>A	ENST00000291971.3	+	3	1737	c.1666G>A	c.(1666-1668)Gga>Aga	p.G556R	NLRP8_ENST00000590542.1_Missense_Mutation_p.G556R	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	556					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTCTCACATGGGACTTTTCTT	0.463																																						ENST00000291971.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(1666-1668)Gga>Aga		NLR family, pyrin domain containing 8							72	68	69					19																	56467090		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56467090G>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"Nucleotide-binding domain and leucine rich repeat containing"	22940	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"	609659	"NACHT, leucine rich repeat and PYD containing 8"	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1666G>A	19.37:g.56467090G>A	ENSP00000291971:p.Gly556Arg					NLRP8_ENST00000590542.1_Missense_Mutation_p.G556R	p.G556R	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	1737	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	556					Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.1666G>A	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	2.278	-0.365396	0.05069	.	.	ENSG00000179709	ENST00000291971	D	0.83914	-1.78	2.04	2.04	0.26737	.	.	.	.	.	D	0.84768	0.5545	M	0.68952	2.095	0.23113	N	0.998278	D;D	0.64830	0.994;0.97	P;P	0.54889	0.763;0.665	T	0.73088	-0.4093	9	0.42905	T	0.14	.	7.6199	0.28179	0.0:0.0:1.0:0.0	.	556;556	Q86W28-2;Q86W28	.;NALP8_HUMAN	R	556	ENSP00000291971:G556R	ENSP00000291971:G556R	G	+	1	0	NLRP8	61158902	0.490000	0.26012	0.099000	0.21106	0.128000	0.20619	3.539000	0.53604	1.453000	0.47775	0.514000	0.50259	GGA		0.463	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		31	37	0	0	0	0.002445	0	31	37					A	56467090	G	A	56467090	3	1	287	1	0	0	0	0	1	0	0	0	10483	1233	43	2	1676	2	NLRP8	19	56467090	Missense_Mutation	SNP	G	TCGA-EM-A22O-01A-11D-A17V-08	300585	56467090	2661893	39	6195											
SULF2	55959	broad.mit.edu	37	chr20	46290580	46290580	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttgcagctcctcagctccaTgagctgtacgtgtagctggt	11	12	1	1			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr20:46290580T>A	ENST00000359930.4	-	18	3282	c.2431A>T	c.(2431-2433)Atg>Ttg	p.M811L	SULF2_ENST00000467815.1_Missense_Mutation_p.M811L|SULF2_ENST00000484875.1_Missense_Mutation_p.M811L|SULF2_ENST00000361612.4_Missense_Mutation_p.M811L	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	811					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CTCAGCTCCATGAGCTGTACG	0.532																																						ENST00000359930.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(2431-2433)Atg>Ttg		sulfatase 2							176	135	149					20																	46290580		2203	4300	6503	SO:0001583	missense	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46290580T>A	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.2431A>T	20.37:g.46290580T>A	ENSP00000353007:p.Met811Leu					SULF2_ENST00000484875.1_Missense_Mutation_p.M811L|SULF2_ENST00000467815.1_Missense_Mutation_p.M811L|SULF2_ENST00000361612.4_Missense_Mutation_p.M811L	p.M811L	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN			18	3282	-			811					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	c.2431A>T	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.517226	0.85495	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000371978;ENST00000467815	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	5.36	5.36	0.76844	Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	T	0.42471	0.1204	L	0.42632	1.34	0.50313	D	0.999864	D;P	0.59357	0.985;0.882	D;P	0.74674	0.984;0.869	T	0.12268	-1.0554	10	0.33141	T	0.24	-27.9805	15.3622	0.74487	0.0:0.0:0.0:1.0	.	811;811	Q8IWU5-2;Q8IWU5	.;SULF2_HUMAN	L	811;811;811;230;811	ENSP00000353007:M811L;ENSP00000418290:M811L;ENSP00000354662:M811L;ENSP00000418442:M811L	ENSP00000353007:M811L	M	-	1	0	SULF2	45723987	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	5.168000	0.64978	2.028000	0.59812	0.379000	0.24179	ATG		0.532	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		51	59	0	0	0	0.00361	0	51	59					A	46290580	T	A	46290580	3	1	287	1	0	0	0	0	1	0	0	0	15370	1464	51	5	197	5	SULF2	20	46290580	Missense_Mutation	SNP	T	TCGA-EM-A22O-01A-11D-A17V-08		46290580	16734940	40	6196											
THAP7	80764	broad.mit.edu	37	chr22	21356155	21356155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcggttgcgcgtctcgcGcgtgtcccgtgtgcagcagc	16	15	1	0			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr22:21356155G>A	ENST00000215742.4	-	1	220	c.46C>T	c.(46-48)Cgc>Tgc	p.R16C	THAP7-AS1_ENST00000436079.1_RNA|THAP7-AS1_ENST00000452284.1_RNA|THAP7-AS1_ENST00000429962.1_RNA|THAP7_ENST00000399133.2_Missense_Mutation_p.R16C	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	16					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nuclear speck (GO:0016607)	C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CGCGTCTCGCGCGTGTCCCGT	0.697																																						ENST00000215742.4																			0				cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8						c.(46-48)Cgc>Tgc		THAP domain containing 7							5	7	6					22																	21356155		2086	4136	6222	SO:0001583	missense	80764				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding	g.chr22:21356155G>A	BC004346	CCDS13787.1	22q11.2	2013-01-25			ENSG00000184436	ENSG00000184436		"THAP (C2CH-type zinc finger) domain containing"	23190	protein-coding gene	gene with protein product		609518				12575992	Standard	NM_030573		Approved	MGC10963	uc002ztr.1	Q9BT49	OTTHUMG00000150879	ENST00000215742.4:c.46C>T	22.37:g.21356155G>A	ENSP00000215742:p.Arg16Cys					THAP7_ENST00000399133.2_Missense_Mutation_p.R16C	p.R16C	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		1	220	-	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	16					B2RD97|D3DX40	Missense_Mutation	SNP	ENST00000215742.4	37	c.46C>T	CCDS13787.1	.	.	.	.	.	.	.	.	.	.	G	32	5.142807	0.94560	.	.	ENSG00000184436	ENST00000215742;ENST00000399133	D;D	0.96619	-4.07;-4.07	5.54	5.54	0.83059	Zinc finger, C2CH-type (3);	0.117832	0.35040	N	0.003488	D	0.97176	0.9077	M	0.77103	2.36	0.52501	D	0.999952	D	0.69078	0.997	P	0.57244	0.816	D	0.97210	0.9870	10	0.87932	D	0	-15.5724	11.9817	0.53123	0.0:0.0:0.8269:0.1731	.	16	Q9BT49	THAP7_HUMAN	C	16	ENSP00000215742:R16C;ENSP00000382084:R16C	ENSP00000215742:R16C	R	-	1	0	THAP7	19686155	0.993000	0.37304	1.000000	0.80357	0.991000	0.79684	2.853000	0.48317	2.605000	0.88082	0.563000	0.77884	CGC		0.697	THAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320405.1	NM_030573		4	2	0	0	0	0.000602	0	4	2					A	21356155	G	A	21356155	3	1	287	1	0	0	0	0	1	0	0	0	15846	1087	38	1	899	1	THAP7	22	21356155	Missense_Mutation	SNP	G	TCGA-EM-A22O-01A-11D-A17V-08		21356155	29948411	41	6197											
ZNRF3	84133	broad.mit.edu	37	chr22	29445437	29445437	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagctacccacccctccAcctggaccacagcctggccg	8	22	0	0			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr22:29445437A>G	ENST00000544604.2	+	8	1443	c.1268A>G	c.(1267-1269)cAc>cGc	p.H423R	ZNRF3_ENST00000402174.1_Missense_Mutation_p.H323R|ZNRF3_ENST00000332811.4_Missense_Mutation_p.H323R|ZNRF3_ENST00000406323.3_Missense_Mutation_p.H323R	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	423					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						CCACCCCTCCACCTGGACCAC	0.697																																						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.(1267-1269)cAc>cGc		zinc and ring finger 3							29	35	33					22																	29445437		2075	4194	6269	SO:0001583	missense	84133					integral to membrane	zinc ion binding	g.chr22:29445437A>G	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.1268A>G	22.37:g.29445437A>G	ENSP00000443824:p.His423Arg					ZNRF3_ENST00000332811.4_Missense_Mutation_p.H323R|ZNRF3_ENST00000402174.1_Missense_Mutation_p.H323R|ZNRF3_ENST00000406323.3_Missense_Mutation_p.H323R	p.H423R	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN			8	1443	+			423					B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Missense_Mutation	SNP	ENST00000544604.2	37	c.1268A>G	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	A	13.42	2.233197	0.39498	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323	T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42	5.53	5.53	0.82687	.	0.205290	0.51477	D	0.000097	T	0.76716	0.4026	L	0.59436	1.845	0.40295	D	0.978545	B	0.13145	0.007	B	0.15870	0.014	T	0.74627	-0.3602	10	0.56958	D	0.05	-0.7553	10.9339	0.47235	0.8433:0.1567:0.0:0.0	.	423	Q9ULT6	ZNRF3_HUMAN	R	423;323;130;323;323	ENSP00000443824:H423R;ENSP00000328614:H323R;ENSP00000384456:H323R;ENSP00000384553:H323R	ENSP00000328614:H323R	H	+	2	0	ZNRF3	27775437	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.403000	0.59729	2.097000	0.63578	0.533000	0.62120	CAC		0.697	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		20	37	0	0	0	0.00333	0	20	37					G	29445437	A	G	29445437	3	3	287	1	0	0	0	0	1	0	0	0	18210	159	6	3	994	3	ZNRF3	22	29445437	Missense_Mutation	SNP	A	TCGA-EM-A22O-01A-11D-A17V-08	8089282	29445437	21859129	42	6198											
USP48	84196	broad.mit.edu	37	chr1	22033083	22033083	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tccccttctctttctaaaatCtgaaagagaatgaagcaatc	5	10	3	3			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr1:22033083C>G	ENST00000308271.9	-	17	2737		c.e17-1		USP48_ENST00000374732.3_Splice_Site|USP48_ENST00000400301.1_Splice_Site|USP48_ENST00000529637.1_Splice_Site	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48						ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TTTCTAAAATCTGAAAGAGAA	0.438																																						ENST00000308271.9																			0				NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.e17-1		ubiquitin specific peptidase 48							97	96	96					1																	22033083		2203	4300	6503	SO:0001630	splice_region_variant	84196				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:22033083C>G	AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"Ubiquitin-specific peptidases"	18533	protein-coding gene	gene with protein product			"ubiquitin specific protease 31", "ubiquitin specific protease 48"	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.2089-1G>C	1.37:g.22033083C>G						USP48_ENST00000400301.1_Splice_Site|USP48_ENST00000374732.3_Splice_Site|USP48_ENST00000529637.1_Splice_Site		NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)	17	2737	-		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)						B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Splice_Site	SNP	ENST00000308271.9	37		CCDS30623.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797842	0.70567	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000374732;ENST00000529637	.	.	.	5.79	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3634	0.66789	0.0:0.9277:0.0:0.0723	.	.	.	.	.	-1	.	.	.	-	.	.	USP48	21905670	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.091000	0.64505	2.745000	0.94114	0.557000	0.71058	.		0.438	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236	Intron	31	76	0	0	0	0.760397	0	31	76					G	22033083	C	G	22033083	5	3	288	1	0	0	0	0	0	0	1	0	17076	927	32	4	1063	4	USP48	1	22033083	Splice_Site	SNP	C	TCGA-EM-A22P-01A-11D-A19J-08		22033083	227217538	1	6199											
TIE1	7075	broad.mit.edu	37	chr1	43770796	43770796	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgtgggcggtgctggggcGcggcgcacgcgcgtcatcta	19	12	2	0			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr1:43770796G>A	ENST00000372476.3	+	2	412	c.333G>A	c.(331-333)gcG>gcA	p.A111A	TIE1_ENST00000433781.2_5'Flank|TIE1_ENST00000538015.1_Silent_p.A111A|TIE1_ENST00000441333.2_Silent_p.A111A	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	111					angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GTGCTGGGGCGCGGCGCACGC	0.697																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(331-333)gcG>gcA		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							26	29	28					1																	43770796		2200	4298	6498	SO:0001819	synonymous_variant	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43770796G>A	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11809	protein-coding gene	gene with protein product		600222	"tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.333G>A	1.37:g.43770796G>A						TIE1_ENST00000538015.1_Silent_p.A111A|TIE1_ENST00000441333.2_Silent_p.A111A	p.A111A	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			2	412	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	111					B5A949|B5A950	Silent	SNP	ENST00000372476.3	37	c.333G>A	CCDS482.1																																																																																				0.697	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		8	24	0	0	0	0.27861	0	8	24					A	43770796	G	A	43770796	2	1	288	1	0	0	0	0	0	0	0	1	15890	1074	38	1		1	TIE1	1	43770796	Silent	SNP	G	TCGA-EM-A22P-01A-11D-A19J-08	21737713	43770796	205479825	2	6200											
C1orf141	400757	broad.mit.edu	37	chr1	67592860	67592860	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcacaaacctttgttcttcTggccaagattatctctgctt	6	11	4	1			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr1:67592860T>C	ENST00000371007.2	-	3	173	c.64A>G	c.(64-66)Aga>Gga	p.R22G	C1orf141_ENST00000544837.1_Missense_Mutation_p.R22G|C1orf141_ENST00000371006.1_Missense_Mutation_p.R22G	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	22										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						TTTGTTCTTCTGGCCAAGATT	0.313																																						ENST00000371007.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						c.(64-66)Aga>Gga		chromosome 1 open reading frame 141							172	170	171					1																	67592860		2203	4299	6502	SO:0001583	missense	400757							g.chr1:67592860T>C	BC090886	CCDS30745.1, CCDS72804.1	1p31.2	2012-07-23			ENSG00000203963	ENSG00000203963			32044	protein-coding gene	gene with protein product							Standard	NM_001276351		Approved		uc001ddm.2	Q5JVX7	OTTHUMG00000009406	ENST00000371007.2:c.64A>G	1.37:g.67592860T>C	ENSP00000360046:p.Arg22Gly					C1orf141_ENST00000371006.1_Missense_Mutation_p.R22G|C1orf141_ENST00000544837.1_Missense_Mutation_p.R22G	p.R22G	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN			3	173	-			22					Q0P5P5|Q5JVX5	Missense_Mutation	SNP	ENST00000371007.2	37	c.64A>G	CCDS30745.1	.	.	.	.	.	.	.	.	.	.	T	13.68	2.310116	0.40895	.	.	ENSG00000203963	ENST00000371007;ENST00000371006;ENST00000371004;ENST00000544837;ENST00000371005;ENST00000448166;ENST00000371003	T;T;T	0.29917	1.55;1.55;1.55	4.28	-4.83	0.03161	.	1.237340	0.06154	N	0.674748	T	0.05686	0.0149	N	0.14661	0.345	0.09310	N	1	P	0.41910	0.764	B	0.33960	0.173	T	0.28808	-1.0032	10	0.66056	D	0.02	3.3679	10.2492	0.43360	0.0:0.0855:0.6424:0.2721	.	22	Q5JVX7	CA141_HUMAN	G	22	ENSP00000360046:R22G;ENSP00000360045:R22G;ENSP00000444018:R22G	ENSP00000360042:R22G	R	-	1	2	C1orf141	67365448	0.003000	0.15002	0.000000	0.03702	0.030000	0.12068	0.024000	0.13555	-0.868000	0.04058	0.528000	0.53228	AGA		0.313	C1orf141-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026096.2	NM_001013674		21	84	0	0	0	0.639603	0	21	84					C	67592860	T	C	67592860	3	2	288	1	0	0	0	0	1	0	0	0	2001	1588	55	3	1162	3	C1orf141	1	67592860	Missense_Mutation	SNP	T	TCGA-EM-A22P-01A-11D-A19J-08	23822064	67592860	181657761	3	6201											
ABCA4	24	broad.mit.edu	37	chr1	94512588	94512588	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacagggctcaaaaatcttTaccagattcttcacgcatac	5	13	4	1			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr1:94512588T>C	ENST00000370225.3	-	19	2891	c.2805A>G	c.(2803-2805)gtA>gtG	p.V935V	ABCA4_ENST00000535735.1_Silent_p.V861V	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	935	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.		V -> A (in STGD1). {ECO:0000269|PubMed:11527935}.		phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CAAAAATCTTTACCAGATTCT	0.498																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(2803-2805)gtA>gtG		ATP-binding cassette, sub-family A (ABC1), member 4							142	154	150					1																	94512588		2203	4300	6503	SO:0001819	synonymous_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94512588T>C	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.2805A>G	1.37:g.94512588T>C						ABCA4_ENST00000535735.1_Silent_p.V861V	p.V935V	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	19	2891	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	935		V -> A (in STGD1).	ABC transporter 1.		O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	c.2805A>G	CCDS747.1																																																																																				0.498	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		49	175	0	0	0	0.870114	0	49	175					C	94512588	T	C	94512588	2	2	288	1	0	0	0	0	0	0	0	1	34	1741	61	3		3	ABCA4	1	94512588	Silent	SNP	T	TCGA-EM-A22P-01A-11D-A19J-08	26919728	94512588	154738033	4	6202											
RALGPS2	55103	broad.mit.edu	37	chr1	178846740	178846740	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaataatatccttcgaataAtttctgatttacagcagtct	5	7	2	2			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr1:178846740A>G	ENST00000367635.3	+	9	1053	c.715A>G	c.(715-717)Att>Gtt	p.I239V	RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000367634.2_Missense_Mutation_p.I239V	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	239	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						CCTTCGAATAATTTCTGATTT	0.338																																						ENST00000367635.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(715-717)Att>Gtt		Ral GEF with PH domain and SH3 binding motif 2							59	60	60					1																	178846740		2203	4299	6502	SO:0001583	missense	55103				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:178846740A>G	AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"Pleckstrin homology (PH) domain containing"	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.715A>G	1.37:g.178846740A>G	ENSP00000356607:p.Ile239Val					RALGPS2_ENST00000367634.2_Missense_Mutation_p.I239V|RALGPS2_ENST00000324778.4_Missense_Mutation_p.I204V|RALGPS2_ENST00000477383.1_3'UTR	p.I239V	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN			9	1053	+			239			Ras-GEF.		B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	ENST00000367635.3	37	c.715A>G	CCDS1325.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.770490	0.90108	.	.	ENSG00000116191	ENST00000367635;ENST00000367634;ENST00000324778	T;T;T	0.35236	1.32;1.32;1.32	5.83	5.83	0.93111	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.104678	0.64402	D	0.000005	T	0.49881	0.1583	M	0.82716	2.605	0.80722	D	1	P;P	0.42973	0.796;0.627	P;P	0.44422	0.449;0.449	T	0.56306	-0.8001	10	0.52906	T	0.07	.	15.8536	0.78956	1.0:0.0:0.0:0.0	.	239;239	B7Z7B1;Q86X27	.;RGPS2_HUMAN	V	239;239;204	ENSP00000356607:I239V;ENSP00000356606:I239V;ENSP00000313613:I204V	ENSP00000313613:I204V	I	+	1	0	RALGPS2	177113363	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.339000	0.96797	2.226000	0.72624	0.459000	0.35465	ATT		0.338	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	NM_152663		9	35	0	0	0	0.307466	0	9	35					G	178846740	A	G	178846740	3	3	288	1	0	0	0	0	1	0	0	0	13018	101	4	3	745	3	RALGPS2	1	178846740	Missense_Mutation	SNP	A	TCGA-EM-A22P-01A-11D-A19J-08	84334152	178846740	70403881	5	6203											
CCDC88A	55704	broad.mit.edu	37	chr2	55522862	55522862	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttcggcagttgagatcaCgctgcttgcacgaggtaaag	12	10	1	1	rs138449414	byFrequency	TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr2:55522862C>T	ENST00000436346.1	-	31	6263	c.5422G>A	c.(5422-5424)Gtg>Atg	p.V1808M	CCDC88A_ENST00000263630.8_Missense_Mutation_p.V1780M|CCDC88A_ENST00000422883.2_Missense_Mutation_p.V309M|CCDC88A_ENST00000336838.6_Missense_Mutation_p.V1807M|CCDC88A_ENST00000413716.2_Splice_Site_p.V1733M	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1808					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GTTGAGATCACGCTGCTTGCA	0.423																																						ENST00000436346.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						c.(5422-5424)Gtg>Atg		coiled-coil domain containing 88A		C	MET/VAL,MET/VAL	0,4406		0,0,2203	175	151	159		5419,5338	5.4	1.0	2	dbSNP_134	159	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	CCDC88A	NM_001135597.1,NM_018084.4	21,21	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	1807/1871,1780/1844	55522862	2,13004	2203	4300	6503	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55522862C>T	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"Galpha-interacting vesicle-associated protein", "Akt-phosphorylation enhancer", "girdin", "girders of actin filaments"	609736	"KIAA1212"	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.5422G>A	2.37:g.55522862C>T	ENSP00000410608:p.Val1808Met					CCDC88A_ENST00000413716.2_Splice_Site_p.V1733_splice|CCDC88A_ENST00000336838.6_Missense_Mutation_p.V1807M|CCDC88A_ENST00000263630.8_Missense_Mutation_p.V1780M|CCDC88A_ENST00000422883.2_Missense_Mutation_p.V309M	p.V1808M	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN			31	6263	-			1808					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.5422G>A		.	.	.	.	.	.	.	.	.	.	C	15.35	2.808616	0.50421	0.0	2.33E-4	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000422883;ENST00000412148;ENST00000413716;ENST00000426576	T;T;T;T;T;T	0.67523	1.65;1.37;1.87;-0.27;1.55;0.49	5.37	5.37	0.77165	.	0.160627	0.28436	U	0.015360	T	0.73713	0.3622	N	0.24115	0.695	0.54753	D	0.999988	B;D;D;D;D;D;D	0.89917	0.377;1.0;1.0;1.0;1.0;1.0;1.0	B;D;D;D;P;D;D	0.87578	0.009;0.998;0.996;0.994;0.904;0.998;0.998	T	0.76631	-0.2888	10	0.62326	D	0.03	-11.582	19.469	0.94954	0.0:1.0:0.0:0.0	.	1733;1780;1725;309;1808;1807;1779	B7ZM78;Q3V6T2-2;D6W5D1;B3KW94;Q3V6T2;Q3V6T2-3;Q3V6T2-4	.;.;.;.;GRDN_HUMAN;.;.	M	1807;1780;1808;309;825;1733;983	ENSP00000338728:V1807M;ENSP00000263630:V1780M;ENSP00000410608:V1808M;ENSP00000390012:V825M;ENSP00000404431:V1733M;ENSP00000405080:V983M	ENSP00000263630:V1780M	V	-	1	0	CCDC88A	55376366	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.142000	0.77339	2.649000	0.89929	0.655000	0.94253	GTG		0.423	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		27	89	0	0	0	0.681144	0	27	89					T	55522862	C	T	55522862	3	4	288	1	0	0	0	0	1	0	0	0	2863	536	19	1	201	1	CCDC88A	2	55522862	Missense_Mutation	SNP	C	TCGA-EM-A22P-01A-11D-A19J-08		55522862	187676511	6	6204											
HIST1H2BF	8343	broad.mit.edu	37	chr6	26199951	26199951	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtccaccccgacaccggcatCtcatccaaggccatgggcat	9	17	1	0			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr6:26199951C>T	ENST00000359985.1	+	1	204	c.165C>T	c.(163-165)atC>atT	p.I55I	HIST1H2AD_ENST00000341023.1_5'Flank|HIST1H3D_ENST00000377831.5_5'Flank|HIST1H3D_ENST00000356476.2_5'Flank	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	55					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				ACACCGGCATCTCATCCAAGG	0.567																																						ENST00000359985.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17						c.(163-165)atC>atT		histone cluster 1, H2bf							223	206	212					6																	26199951		2203	4300	6503	SO:0001819	synonymous_variant	8343				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26199951C>T	Z80779	CCDS4592.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197846	ENSG00000277224		"Histones / Replication-dependent"	4752	protein-coding gene	gene with protein product		602804	"H2B histone family, member G", "histone 1, H2bf"	H2BFG		9119399, 12408966	Standard	NM_003522		Approved	H2B/g	uc003ngx.3	P62807	OTTHUMG00000014445	ENST00000359985.1:c.165C>T	6.37:g.26199951C>T							p.I55I	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN			1	204	+		all_hematologic(11;0.196)	55					P02278|Q3B872|Q4VB69|Q93078|Q93080	Silent	SNP	ENST00000359985.1	37	c.165C>T	CCDS4592.1																																																																																				0.567	HIST1H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040108.1	NM_003522		57	225	0	0	0	0.870114	0	57	225					T	26199951	C	T	26199951	2	4	288	1	0	0	0	0	0	0	0	1	7145	903	32	2		2	HIST1H2BF	6	26199951	Silent	SNP	C	TCGA-EM-A22P-01A-11D-A19J-08		26199951	144915116	7	6205											
DDX56	54606	broad.mit.edu	37	chr7	44607781	44607781	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgcaaaggtaggtcatgCcgcagcagctggaggtccct	16	10	1	0			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr7:44607781C>T	ENST00000258772.5	-	12	1531	c.1425G>A	c.(1423-1425)cgG>cgA	p.R475R	DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Silent_p.R435R	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	475					ATP catabolic process (GO:0006200)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						GTAGGTCATGCCGCAGCAGCT	0.592																																						ENST00000258772.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						c.(1423-1425)cgG>cgA		DEAD (Asp-Glu-Ala-Asp) box helicase 56							90	84	86					7																	44607781		2203	4300	6503	SO:0001819	synonymous_variant	54606				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding	g.chr7:44607781C>T	AJ131712	CCDS5492.1, CCDS59053.1	7p13	2012-02-23	2012-02-23		ENSG00000136271	ENSG00000136271		"DEAD-boxes"	18193	protein-coding gene	gene with protein product	"nucleolar helicase of 61 kDa"	608023	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 56"			10749921	Standard	NM_019082		Approved	NOH61	uc003tlg.4	Q9NY93	OTTHUMG00000129211	ENST00000258772.5:c.1425G>A	7.37:g.44607781C>T						DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Silent_p.R435R	p.R475R	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN			12	1531	-			475					A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Silent	SNP	ENST00000258772.5	37	c.1425G>A	CCDS5492.1																																																																																				0.592	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251291.1	NM_019082		3	39	0	0	0	0.115264	0	3	39					T	44607781	C	T	44607781	2	4	288	1	0	0	0	0	0	0	0	1	4374	726	26	2		2	DDX56	7	44607781	Silent	SNP	C	TCGA-EM-A22P-01A-11D-A19J-08		44607781	114530882	8	6206											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		18	64	0	0	0	0.557998	0	18	64					T	140453136	A	T	140453136	3	4	288	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A22P-01A-11D-A19J-08	95845355	140453136	18685527	9	6207											
ATG2A	23130	broad.mit.edu	37	chr11	64679415	64679415	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagctcagagagggctgagGccacactgcttgtgaggcca	15	10	1	4			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr11:64679415G>A	ENST00000377264.3	-	9	1239	c.1127C>T	c.(1126-1128)gCc>gTc	p.A376V	ATG2A_ENST00000421419.2_Missense_Mutation_p.A376V	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	376					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GAGGGCTGAGGCCACACTGCT	0.652																																						ENST00000421419.2																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(1126-1128)gCc>gTc		autophagy related 2A							65	57	60					11																	64679415		2201	4297	6498	SO:0001583	missense	23130						protein binding	g.chr11:64679415G>A		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"ATG2 autophagy related 2 homolog A (S. cerevisiae)"			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.1127C>T	11.37:g.64679415G>A	ENSP00000366475:p.Ala376Val					ATG2A_ENST00000377264.3_Missense_Mutation_p.A376V	p.A376V			Q2TAZ0	ATG2A_HUMAN			9	1241	-			376					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.1127C>T	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910546	0.52439	.	.	ENSG00000110046	ENST00000421419;ENST00000377264;ENST00000227459	T;T	0.06768	3.26;3.26	4.42	2.5	0.30297	.	0.425461	0.23840	N	0.044041	T	0.07234	0.0183	L	0.36672	1.1	0.21627	N	0.999611	B	0.20261	0.043	B	0.24701	0.055	T	0.28964	-1.0027	10	0.44086	T	0.13	.	7.4749	0.27369	0.0953:0.1701:0.7346:0.0	.	376	Q2TAZ0	ATG2A_HUMAN	V	376	ENSP00000410522:A376V;ENSP00000366475:A376V	ENSP00000227459:A376V	A	-	2	0	ATG2A	64435991	1.000000	0.71417	0.222000	0.23844	0.883000	0.51084	5.261000	0.65496	0.602000	0.29896	0.561000	0.74099	GCC		0.652	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		7	24	0	0	0	0.248553	0	7	24					A	64679415	G	A	64679415	3	1	288	1	0	0	0	0	1	0	0	0	1093	1203	42	2	4821	2	ATG2A	11	64679415	Missense_Mutation	SNP	G	TCGA-EM-A22P-01A-11D-A19J-08		64679415	70327101	10	6208											
TBK1	29110	broad.mit.edu	37	chr12	64891007	64891007	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agtgttttgatattgaagaaGaagtatcaaaatatcaagaa	8	2	2	5			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr12:64891007G>A	ENST00000331710.5	+	18	2266	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	643					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		TATTGAAGAAGAAGTATCAAA	0.308																																						ENST00000331710.5																			0				breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20						c.(1927-1929)Gaa>Aaa		TANK-binding kinase 1							101	99	100					12																	64891007		2202	4296	6498	SO:0001583	missense	29110				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr12:64891007G>A	AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.1927G>A	12.37:g.64891007G>A	ENSP00000329967:p.Glu643Lys						p.E643K	NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN		GBM - Glioblastoma multiforme(28;0.0386)	18	2266	+			643					A8K4S4|Q8IYV3|Q9NUJ5	Missense_Mutation	SNP	ENST00000331710.5	37	c.1927G>A	CCDS8968.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.032308	0.93575	.	.	ENSG00000183735	ENST00000331710	T	0.20598	2.06	5.41	5.41	0.78517	.	0.124393	0.56097	D	0.000030	T	0.17023	0.0409	L	0.29908	0.895	0.80722	D	1	P	0.40970	0.734	B	0.34652	0.187	T	0.02925	-1.1093	9	.	.	.	-14.7948	19.561	0.95373	0.0:0.0:1.0:0.0	.	643	Q9UHD2	TBK1_HUMAN	K	643	ENSP00000329967:E643K	.	E	+	1	0	TBK1	63177274	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	7.902000	0.87389	2.710000	0.92621	0.491000	0.48974	GAA		0.308	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401130.1	NM_013254		7	113	0	0	0	0.248553	0	7	113					A	64891007	G	A	64891007	3	1	288	1	0	0	0	0	1	0	0	0	15634	943	33	2	1993	2	TBK1	12	64891007	Missense_Mutation	SNP	G	TCGA-EM-A22P-01A-11D-A19J-08		64891007	68960888	11	6209											
IL17D	53342	broad.mit.edu	37	chr13	21296003	21296003	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacctgcgtccccgagccGgagaaggacgcagacagcat	13	14	0	2			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr13:21296003G>A	ENST00000304920.3	+	3	627	c.519G>A	c.(517-519)ccG>ccA	p.P173P		NM_138284.1	NP_612141.1	Q8TAD2	IL17D_HUMAN	interleukin 17D	173					inflammatory response (GO:0006954)	extracellular space (GO:0005615)				endometrium(1)|skin(1)	2		all_cancers(29;9.63e-24)|all_epithelial(30;1.09e-19)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000301)|Epithelial(112;0.000633)|OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Lung(94;0.0154)|LUSC - Lung squamous cell carcinoma(192;0.0414)		TCCCCGAGCCGGAGAAGGACG	0.716																																						ENST00000304920.3																			0				endometrium(1)|skin(1)	2						c.(517-519)ccG>ccA		interleukin 17D							36	36	36					13																	21296003		2180	4246	6426	SO:0001819	synonymous_variant	53342				inflammatory response	extracellular space	cytokine activity	g.chr13:21296003G>A	AY078238	CCDS9292.1	13q11	2008-07-18			ENSG00000172458	ENSG00000172458		"Interleukins and interleukin receptors"	5984	protein-coding gene	gene with protein product	"interleukin 27"	607587				12097364	Standard	NM_138284		Approved	IL-22, IL-27, IL-17D, IL27, FLJ30846	uc001unm.3	Q8TAD2	OTTHUMG00000016521	ENST00000304920.3:c.519G>A	13.37:g.21296003G>A							p.P173P	NM_138284.1	NP_612141.1	Q8TAD2	IL17D_HUMAN		all cancers(112;0.000301)|Epithelial(112;0.000633)|OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Lung(94;0.0154)|LUSC - Lung squamous cell carcinoma(192;0.0414)	3	627	+		all_cancers(29;9.63e-24)|all_epithelial(30;1.09e-19)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	173					B1AM69	Silent	SNP	ENST00000304920.3	37	c.519G>A	CCDS9292.1																																																																																				0.716	IL17D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044087.1	NM_138284		4	79	0	0	0	0.150653	0	4	79					A	21296003	G	A	21296003	2	1	288	1	0	0	0	0	0	0	0	1	7637	1103	39	1		1	IL17D	13	21296003	Silent	SNP	G	TCGA-EM-A22P-01A-11D-A19J-08		21296003	93873875	12	6210											
AQP4	361	broad.mit.edu	37	chr18	24445624	24445624	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcaaagaaggacttacccCcaccgccttgctgtgggtct	11	13	1	1			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr18:24445624C>T	ENST00000383168.4	-	1	158	c.30G>A	c.(28-30)tgG>tgA	p.W10*	AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000440832.3_5'Flank|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|AQP4_ENST00000581374.1_5'Flank	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	10					carbon dioxide transport (GO:0015670)|cellular response to estradiol stimulus (GO:0071392)|cellular response to interferon-gamma (GO:0071346)|female pregnancy (GO:0007565)|hyperosmotic salinity response (GO:0042538)|multicellular organismal water homeostasis (GO:0050891)|protein homooligomerization (GO:0051260)|renal water absorption (GO:0070295)|response to glucocorticoid (GO:0051384)|response to radiation (GO:0009314)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)	porin activity (GO:0015288)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					GGACTTACCCCCACCGCCTTG	0.522																																						ENST00000383168.4																			0				kidney(2)|large_intestine(3)|lung(5)|skin(1)	11						c.(28-30)tgG>tgA		aquaporin 4							121	123	122					18																	24445624		2203	4300	6503	SO:0001587	stop_gained	361				cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity	g.chr18:24445624C>T	U63622	CCDS11889.1, CCDS58617.1	18q11.2-q12.1	2005-09-20			ENSG00000171885	ENSG00000171885		"Ion channels / Aquaporins"	637	protein-coding gene	gene with protein product		600308				7528931	Standard	NM_001650		Approved	MIWC	uc002kwa.3	P55087	OTTHUMG00000131955	ENST00000383168.4:c.30G>A	18.37:g.24445624C>T	ENSP00000372654:p.Trp10*					AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA	p.W10*	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN			1	158	-	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)		10					P78564	Nonsense_Mutation	SNP	ENST00000383168.4	37	c.30G>A	CCDS11889.1	.	.	.	.	.	.	.	.	.	.	C	37	6.522879	0.97633	.	.	ENSG00000171885	ENST00000383168;ENST00000440832;ENST00000383170	.	.	.	4.8	4.8	0.61643	.	1.032150	0.07621	N	0.926977	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	15.0992	0.72258	0.0:0.8574:0.1426:0.0	.	.	.	.	X	10;10;17	.	ENSP00000372654:W10X	W	-	3	0	AQP4	22699622	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.005000	0.49521	2.603000	0.88011	0.655000	0.94253	TGG		0.522	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254914.2	NM_001650, NM_004028		35	115	0	0	0	0.788014	0	35	115					T	24445624	C	T	24445624	4	4	288	1	0	0	0	0	0	1	0	0	828	624	22	2	961	2	AQP4	18	24445624	Nonsense_Mutation	SNP	C	TCGA-EM-A22P-01A-11D-A19J-08		24445624	53631624	13	6211											
MUC16	94025	broad.mit.edu	37	chr19	9090520	9090520	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagtcatagatgtattcaaaGttccttctgtttcctttcca	6	9	3	1			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr19:9090520G>T	ENST00000397910.4	-	1	1498	c.1295C>A	c.(1294-1296)aCt>aAt	p.T432N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	432	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTATTCAAAGTTCCTTCTGT	0.488																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(1294-1296)aCt>aAt		mucin 16, cell surface associated							157	147	150					19																	9090520		1979	4170	6149	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090520G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1295C>A	19.37:g.9090520G>T	ENSP00000381008:p.Thr432Asn						p.T432N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	1498	-			432			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.1295C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	1.324	-0.598593	0.03744	.	.	ENSG00000181143	ENST00000397910	T	0.02525	4.26	1.38	-1.42	0.08913	.	.	.	.	.	T	0.01627	0.0052	N	0.08118	0	.	.	.	B	0.19200	0.034	B	0.08055	0.003	T	0.41142	-0.9525	8	0.87932	D	0	.	5.5315	0.16987	0.0:0.0:0.425:0.575	.	432	B5ME49	.	N	432	ENSP00000381008:T432N	ENSP00000381008:T432N	T	-	2	0	MUC16	8951520	0.000000	0.05858	0.001000	0.08648	0.085000	0.17905	-0.285000	0.08410	-0.295000	0.08960	-0.823000	0.03104	ACT		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		20	67	1	0	3.51602e-12	0.575678	3.70107e-12	20	67					T	9090520	G	T	9090520	3	4	288	1	0	0	0	0	1	0	0	0	9973	1029	36	4	42564	4	MUC16	19	9090520	Missense_Mutation	SNP	G	TCGA-EM-A22P-01A-11D-A19J-08		9090520	50038463	14	6212											
PRRG1	5638	broad.mit.edu	37	chrX	37312552	37312552	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctaagaaacaaaactcgtaGacagacagtgactgaaggcc	9	10	0	5			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chrX:37312552G>A	ENST00000542554.1	+	5	607	c.335G>A	c.(334-336)aGa>aAa	p.R112K	PRRG1_ENST00000449135.2_Missense_Mutation_p.R112K|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000378628.4_Missense_Mutation_p.R112K|PRRG1_ENST00000543642.1_Missense_Mutation_p.R112K|PRRG1_ENST00000491253.1_3'UTR	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	112						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						AAAACTCGTAGACAGACAGTG	0.438																																						ENST00000542554.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(334-336)aGa>aAa		proline rich Gla (G-carboxyglutamic acid) 1							158	130	139					X																	37312552		2202	4300	6502	SO:0001583	missense	5638					extracellular region|integral to plasma membrane	calcium ion binding	g.chrX:37312552G>A	AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.335G>A	X.37:g.37312552G>A	ENSP00000444278:p.Arg112Lys					PRRG1_ENST00000378628.4_Missense_Mutation_p.R112K|PRRG1_ENST00000449135.2_Missense_Mutation_p.R112K|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000543642.1_Missense_Mutation_p.R112K	p.R112K	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN			5	607	+			112					B2R7A3|C9JXL7|D3DWA9|Q5JT66	Missense_Mutation	SNP	ENST00000542554.1	37	c.335G>A	CCDS14239.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466827	0.84425	.	.	ENSG00000130962	ENST00000378628;ENST00000466533;ENST00000542554;ENST00000543642;ENST00000484460;ENST00000449135	D;D;D;D;D;D	0.99098	-5.26;-5.21;-5.26;-5.26;-5.42;-5.26	6.03	6.03	0.97812	.	0.044299	0.85682	D	0.000000	D	0.99007	0.9661	L	0.60455	1.87	0.43050	D	0.994658	D	0.58970	0.984	D	0.68192	0.956	D	0.99904	1.1173	10	0.46703	T	0.11	-17.4082	17.9386	0.89020	0.0:0.0:1.0:0.0	.	112	O14668	TMG1_HUMAN	K	112	ENSP00000367894:R112K;ENSP00000418384:R112K;ENSP00000444278:R112K;ENSP00000443271:R112K;ENSP00000420353:R112K;ENSP00000390332:R112K	ENSP00000367894:R112K	R	+	2	0	PRRG1	37197473	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	6.116000	0.71571	2.561000	0.86390	0.523000	0.50628	AGA		0.438	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056228.2	NM_000950		23	41	0	0	0	0.624587	0	23	41					A	37312552	G	A	37312552	3	1	288	1	0	0	0	0	1	0	0	0	12605	942	33	2	427	2	PRRG1	23	37312552	Missense_Mutation	SNP	G	TCGA-EM-A22P-01A-11D-A19J-08		37312552	117958008	15	6213											
ZNF185	7739	broad.mit.edu	37	chrX	152139069	152139069	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cattcactgtgggaaatgctAtgagaagctcttctaggtgg	12	7	3	1			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chrX:152139069A>T	ENST00000370268.4	+	22	2091	c.2054A>T	c.(2053-2055)tAt>tTt	p.Y685F	ZNF185_ENST00000318504.7_Missense_Mutation_p.Y626F|ZNF185_ENST00000370270.2_Missense_Mutation_p.Y717F|ZNF185_ENST00000449285.2_Missense_Mutation_p.Y686F|ZNF185_ENST00000535861.1_Missense_Mutation_p.Y717F|ZNF185_ENST00000318529.8_Missense_Mutation_p.Y464F|ZNF185_ENST00000324823.6_Missense_Mutation_p.Y453F|ZNF185_ENST00000539731.1_Missense_Mutation_p.Y688F|ZNF185_ENST00000454925.1_Missense_Mutation_p.Y323F			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	685	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					GGGAAATGCTATGAGAAGCTC	0.498																																						ENST00000535861.1																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12						c.(2149-2151)tAt>tTt		zinc finger protein 185 (LIM domain)							146	130	135					X																	152139069		2000	4164	6164	SO:0001583	missense	7739					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding	g.chrX:152139069A>T	AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"Zinc fingers, C2H2-type"	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.2054A>T	X.37:g.152139069A>T	ENSP00000359291:p.Tyr685Phe					ZNF185_ENST00000318504.7_Missense_Mutation_p.Y626F|ZNF185_ENST00000370268.4_Missense_Mutation_p.Y685F|ZNF185_ENST00000539731.1_Missense_Mutation_p.Y688F|ZNF185_ENST00000318529.8_Missense_Mutation_p.Y464F|ZNF185_ENST00000324823.6_Missense_Mutation_p.Y453F|ZNF185_ENST00000370270.1_Missense_Mutation_p.Y448F|ZNF185_ENST00000449285.2_Missense_Mutation_p.Y686F	p.Y717F	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN			23	2198	+	Acute lymphoblastic leukemia(192;6.56e-05)		685					A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Missense_Mutation	SNP	ENST00000370268.4	37	c.2150A>T	CCDS48184.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.52|18.52	3.642898|3.642898	0.67244|0.67244	.|.	.|.	ENSG00000147394|ENSG00000147394	ENST00000454925|ENST00000535861;ENST00000539731;ENST00000449285;ENST00000318504;ENST00000535156;ENST00000324823;ENST00000370268;ENST00000318529;ENST00000370270	.|D;D;D;D;D;D;D;D	.|0.85411	.|-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98	5.25|5.25	4.06|4.06	0.47325|0.47325	.|Zinc finger, LIM-type (1);	.|0.000000	.|0.41500	.|D	.|0.000878	D|D	0.89491|0.89491	0.6730|0.6730	L|L	0.60845|0.60845	1.875|1.875	0.36539|0.36539	D|D	0.871171|0.871171	.|D;D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;0.998;0.998;0.999;0.998;0.998;0.998;1.0	.|D;D;D;D;D;D;D;D;D	.|0.87578	.|0.997;0.998;0.982;0.994;0.995;0.994;0.994;0.971;0.998	D|D	0.90735|0.90735	0.4645|0.4645	5|10	.|0.87932	.|D	.|0	-13.3014|-13.3014	9.7206|9.7206	0.40300|0.40300	0.8275:0.1725:0.0:0.0|0.8275:0.1725:0.0:0.0	.|.	.|686;626;656;688;717;685;323;464;448	.|O15231-3;B8K2L9;B8K2M0;F5GZL4;F5GXF7;O15231;Q8N1R8;F8W8V7;O15231-2	.|.;.;.;.;.;ZN185_HUMAN;.;.;.	L|F	326|717;688;686;626;520;453;685;464;448	.|ENSP00000440847:Y717F;ENSP00000444367:Y688F;ENSP00000395228:Y686F;ENSP00000312782:Y626F;ENSP00000325307:Y453F;ENSP00000359291:Y685F;ENSP00000313919:Y464F;ENSP00000359293:Y448F	.|ENSP00000312782:Y626F	M|Y	+|+	1|2	0|0	ZNF185|ZNF185	151889725|151889725	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.948000|0.948000	0.59901|0.59901	5.764000|5.764000	0.68826|0.68826	0.722000|0.722000	0.32252|0.32252	0.486000|0.486000	0.48141|0.48141	ATG|TAT		0.498	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150		4	41	0	0	0	0.184627	0	4	41					T	152139069	A	T	152139069	3	4	288	1	0	0	0	0	1	0	0	0	17749	449	16	5	2384	5	ZNF185	23	152139069	Missense_Mutation	SNP	A	TCGA-EM-A22P-01A-11D-A19J-08	114826517	152139069	3131491	16	6214											
PTBP2	58155	broad.mit.edu	37	chr1	97235421	97235422	+	Frame_Shift_Ins	INS	-	-	A													aacatccttatgctgaaaggINSaaaaaatcaggtacacttct							TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr1:97235421_97235422insA	ENST00000426398.2	+	4	321_322	c.278_279insA	c.(277-282)ggaaaafs	p.GK93fs	PTBP2_ENST00000394184.3_Frame_Shift_Ins_p.GK104fs|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000541987.1_Frame_Shift_Ins_p.GK62fs|PTBP2_ENST00000609116.1_Frame_Shift_Ins_p.GK93fs|PTBP2_ENST00000370197.1_Frame_Shift_Ins_p.GK93fs|PTBP2_ENST00000370198.1_Frame_Shift_Ins_p.GK93fs	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	93	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		ATGCTGAAAGGAAAAAATCAGG	0.356																																						ENST00000236228.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26						c.(277-279)gaafs		polypyrimidine tract binding protein 2																																				SO:0001589	frameshift_variant	58155						nucleotide binding	g.chr1:97235421_97235422insA	AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"RNA binding motif (RRM) containing"	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.284dupA	1.37:g.97235427_97235427dupA	ENSP00000412788:p.Gly93fs					PTBP2_ENST00000394184.3_Frame_Shift_Ins_p.E104fs|PTBP2_ENST00000541987.1_Frame_Shift_Ins_p.E62fs|PTBP2_ENST00000426398.2_Frame_Shift_Ins_p.E93fs|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370198.1_Frame_Shift_Ins_p.E93fs|PTBP2_ENST00000370197.1_Frame_Shift_Ins_p.E93fs	p.E93fs	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)	4	360_361	+		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)	93			RRM 1.		Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Frame_Shift_Ins	INS	ENST00000426398.2	37	c.278_279insA	CCDS754.1																																																																																				0.356	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029453.1			24	56						24	56	---	---	---	---	A	97235422	-	A	97235421	7	5	289	1	0	1	1	0	0	0	0	0	12726	1174	41	0	292	0	PTBP2	1	97235421	Frame_Shift_Ins	INS	-	TCGA-EM-A22Q-01A-11D-A17V-08		97235421	152015200	1	6215											
NRAS	4893	broad.mit.edu	37	chr1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catggcactgtactcttcttGtccagctgtatccagtatgt	8	11	2	0	rs121913254		TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		610	Substitution - Missense(609)|Complex(1)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)	skin(372)|haematopoietic_and_lymphoid_tissue(73)|thyroid(55)|NS(29)|large_intestine(28)|soft_tissue(16)|lung(12)|autonomic_ganglia(6)|liver(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|cervix(2)|endometrium(2)|pancreas(2)|meninges(1)|kidney(1)|biliary_tract(1)|stomach(1)|ovary(1)|bone(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)Caa>Aaa		neuroblastoma RAS viral (v-ras) oncogene homolog							180	156	164					1																	115256530		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256530G>T	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.181C>A	1.37:g.115256530G>T	ENSP00000358548:p.Gln61Lys	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61K	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	434	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.181C>A	CCDS877.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255564	0.95336	.	.	ENSG00000213281	ENST00000369535	D	0.83506	-1.73	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.91845	0.7419	H	0.95850	3.73	0.80722	D	1	P	0.51791	0.948	P	0.54759	0.76	D	0.93711	0.7024	10	0.62326	D	0.03	.	18.6626	0.91477	0.0:0.0:1.0:0.0	.	61	P01111	RASN_HUMAN	K	61	ENSP00000358548:Q61K	ENSP00000358548:Q61K	Q	-	1	0	NRAS	115058053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.520000	0.98027	2.624000	0.88883	0.655000	0.94253	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		55	103	1	0	4.33383e-22	0.01441	7.36752e-22	55	103					T	115256530	G	T	115256530	3	4	289	1	0	0	0	0	1	0	0	0	10640	1386	48	4	400	4	NRAS	1	115256530	Missense_Mutation	SNP	G	TCGA-EM-A22Q-01A-11D-A17V-08	18021109	115256530	133994091	2	6216											
POLR1B	84172	broad.mit.edu	37	chr2	113332950	113332950	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtaaggacaactggagccCgagacagagtcaccaaccag	11	11	1	2			TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr2:113332950C>T	ENST00000263331.5	+	15	3632	c.3052C>T	c.(3052-3054)Cga>Tga	p.R1018*	POLR1B_ENST00000409894.3_Nonsense_Mutation_p.R835*|POLR1B_ENST00000537335.1_Nonsense_Mutation_p.R807*|POLR1B_ENST00000541869.1_Nonsense_Mutation_p.R1056*|POLR1B_ENST00000417433.2_Nonsense_Mutation_p.R962*	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	1018					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						AACTGGAGCCCGAGACAGAGT	0.488																																					Ovarian(16;256 576 9537 23969 41147)	ENST00000263331.5																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(3052-3054)Cga>Tga		polymerase (RNA) I polypeptide B, 128kDa							84	91	89					2																	113332950		2203	4300	6503	SO:0001587	stop_gained	84172				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr2:113332950C>T	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"RNA polymerase subunits"	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.3052C>T	2.37:g.113332950C>T	ENSP00000263331:p.Arg1018*					POLR1B_ENST00000417433.2_Nonsense_Mutation_p.R962*|POLR1B_ENST00000409894.3_Nonsense_Mutation_p.R835*|POLR1B_ENST00000541869.1_Nonsense_Mutation_p.R1056*|POLR1B_ENST00000537335.1_Nonsense_Mutation_p.R807*	p.R1018*	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN			15	3632	+			1018					B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Nonsense_Mutation	SNP	ENST00000263331.5	37	c.3052C>T	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	C	39	7.512561	0.98329	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000409894;ENST00000537335;ENST00000417433;ENST00000536096	.	.	.	5.59	1.59	0.23543	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-27.8075	13.761	0.62966	0.6138:0.3862:0.0:0.0	.	.	.	.	X	1018;1056;835;807;962;377	.	ENSP00000263331:R1018X	R	+	1	2	POLR1B	113049421	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	2.319000	0.43788	0.398000	0.25338	-0.457000	0.05445	CGA		0.488	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		25	48	0	0	0	0.016522	0	25	48					T	113332950	C	T	113332950	4	4	289	1	0	0	0	0	0	1	0	0	12210	644	23	1	3110	1	POLR1B	2	113332950	Nonsense_Mutation	SNP	C	TCGA-EM-A22Q-01A-11D-A17V-08		113332950	129866423	3	6217											
CELSR3	1951	broad.mit.edu	37	chr3	48699285	48699285	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgtccgagactcgcggggTgctgaacctgatgcaggagc	16	11	0	3			TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr3:48699285T>G	ENST00000164024.4	-	1	1063	c.783A>C	c.(781-783)gcA>gcC	p.A261A	CELSR3_ENST00000544264.1_Silent_p.A261A|RP11-148G20.1_ENST00000421275.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	261					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACTCGCGGGGTGCTGAACCTG	0.726																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(781-783)gcA>gcC		cadherin, EGF LAG seven-pass G-type receptor 3							23	29	27					3																	48699285		2189	4274	6463	SO:0001819	synonymous_variant	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48699285T>G	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.783A>C	3.37:g.48699285T>G						CELSR3_ENST00000164024.4_Silent_p.A261A	p.A261A			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	1063	-			261					O75092	Silent	SNP	ENST00000164024.4	37	c.783A>C	CCDS2775.1																																																																																				0.726	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		7	52	0	0	0	0.013537	0	7	52					G	48699285	T	G	48699285	2	3	289	1	0	0	0	0	0	0	0	1	3223	1683	59	5		5	CELSR3	3	48699285	Silent	SNP	T	TCGA-EM-A22Q-01A-11D-A17V-08		48699285	149323145	4	6218											
YEATS2	55689	broad.mit.edu	37	chr3	183472085	183472085	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaattgttccacaaagtcAggttcctaatcctgagtcac	6	11	2	1			TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr3:183472085A>G	ENST00000305135.5	+	11	1517	c.1322A>G	c.(1321-1323)cAg>cGg	p.Q441R		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	441					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCACAAAGTCAGGTTCCTAAT	0.448																																						ENST00000305135.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(1321-1323)cAg>cGg		YEATS domain containing 2							113	106	108					3																	183472085		1910	4129	6039	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183472085A>G	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.1322A>G	3.37:g.183472085A>G	ENSP00000306983:p.Gln441Arg						p.Q441R	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		11	1517	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		441					A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.1322A>G	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	A	14.82	2.650615	0.47362	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.29917	1.55	5.81	5.81	0.92471	.	0.070129	0.64402	D	0.000019	T	0.22589	0.0545	L	0.34521	1.04	0.53688	D	0.999971	B	0.12630	0.006	B	0.09377	0.004	T	0.07849	-1.0751	10	0.20519	T	0.43	-13.0499	11.2447	0.48990	0.9292:0.0:0.0708:0.0	.	441	Q9ULM3	YETS2_HUMAN	R	441	ENSP00000306983:Q441R	ENSP00000306983:Q441R	Q	+	2	0	YEATS2	184954779	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.233000	0.72320	2.221000	0.72209	0.455000	0.32223	CAG		0.448	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		3	61	0	0	0	0.009096	0	3	61					G	183472085	A	G	183472085	3	3	289	1	0	0	0	0	1	0	0	0	17469	188	7	3	1360	3	YEATS2	3	183472085	Missense_Mutation	SNP	A	TCGA-EM-A22Q-01A-11D-A17V-08	134772800	183472085	14550345	5	6219											
FRAS1	80144	broad.mit.edu	37	chr4	79360116	79360116	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gatagcttctatttctctgtCtctgacatggaccacaacca	6	12	3	1			TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr4:79360116C>G	ENST00000325942.6	+	40	5867	c.5427C>G	c.(5425-5427)gtC>gtG	p.V1809V	FRAS1_ENST00000264895.6_Silent_p.V1809V	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1809					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATTTCTCTGTCTCTGACATGG	0.378																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(5425-5427)gtC>gtG		Fraser syndrome 1							185	187	186					4																	79360116		1904	4113	6017	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79360116C>G	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.5427C>G	4.37:g.79360116C>G						FRAS1_ENST00000325942.6_Silent_p.V1809V	p.V1809V	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			40	5867	+			1808					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000325942.6	37	c.5427C>G	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	C	8.874	0.949887	0.18431	.	.	ENSG00000138759	ENST00000510944;ENST00000512123	.	.	.	5.92	3.22	0.36961	.	.	.	.	.	T	0.46678	0.1405	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30765	-0.9967	4	.	.	.	.	3.541	0.07811	0.1155:0.3008:0.414:0.1697	.	.	.	.	V	259;38	.	.	L	+	1	0	FRAS1	79579140	0.510000	0.26171	1.000000	0.80357	0.997000	0.91878	-0.013000	0.12678	0.362000	0.24319	0.585000	0.79938	CTC		0.378	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			52	94	0	0	0	0.01441	0	52	94					G	79360116	C	G	79360116	2	3	289	1	0	0	0	0	0	0	0	1	6042	900	32	4		4	FRAS1	4	79360116	Silent	SNP	C	TCGA-EM-A22Q-01A-11D-A17V-08		79360116	111794160	6	6220											
PPIL6	285755	broad.mit.edu	37	chr6	109757309	109757309	+	Frame_Shift_Del	DEL	T	T	-													accccaaatatcctttacccTttttttctcctgtagatatt							TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr6:109757309delT	ENST00000521072.2	-	2	809	c.229delA	c.(229-231)aggfs	p.R77fs	AL109947.1_ENST00000459391.1_RNA|PPIL6_ENST00000424445.2_Intron|PPIL6_ENST00000440797.2_Frame_Shift_Del_p.R77fs	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 6	77					protein folding (GO:0006457)		peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		TCCTTTACCCTTTTTTTCTCC	0.338																																						ENST00000521072.2																			0				large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(229-231)ggfs		peptidylprolyl isomerase (cyclophilin)-like 6							112	120	117					6																	109757309		2203	4300	6503	SO:0001589	frameshift_variant	285755				protein folding		peptidyl-prolyl cis-trans isomerase activity	g.chr6:109757309delT		CCDS5074.1, CCDS47466.1, CCDS47466.2, CCDS69169.1	6q21	2009-11-18			ENSG00000185250	ENSG00000185250			21557	protein-coding gene	gene with protein product	"radial spoke 12 homolog (Chlamydomonas)"						Standard	NM_173672		Approved	bA425D10.6, MGC41939, dJ919F19.1, RSPH12	uc010kdp.3	Q8IXY8	OTTHUMG00000036593	ENST00000521072.2:c.229delA	6.37:g.109757309delT	ENSP00000427929:p.Arg77fs					PPIL6_ENST00000424445.2_Intron|PPIL6_ENST00000440797.2_Frame_Shift_Del_p.R77fs	p.R77fs	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)	2	809	-		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)	77					A9NIU0|A9NIU9|E7EX15	Frame_Shift_Del	DEL	ENST00000521072.2	37	c.229delA	CCDS5074.1																																																																																				0.338	PPIL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089003.4			7	150						7	150	---	---	---	---	-	109757309	T	-	109757309	7	5	289	1	0	1	0	1	0	0	0	0	12331	1608	56	0	816	0	PPIL6	6	109757309	Frame_Shift_Del	DEL	T	TCGA-EM-A22Q-01A-11D-A17V-08		109757309	61357758	7	6221											
ADAM12	8038	broad.mit.edu	37	chr10	127737869	127737869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcacaagccctgggtccgGcatgtcatcgcccaagtaca	10	14	1	0			TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr10:127737869G>A	ENST00000368679.4	-	16	2188	c.1879C>T	c.(1879-1881)Ccg>Tcg	p.P627S	ADAM12_ENST00000368676.4_Missense_Mutation_p.P627S|ADAM12_ENST00000467145.1_5'Flank	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	627	Cys-rich.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CCTGGGTCCGGCATGTCATCG	0.527																																						ENST00000368679.4																			0				biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1879-1881)Ccg>Tcg		ADAM metallopeptidase domain 12							183	187	185					10																	127737869		2203	4300	6503	SO:0001583	missense	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127737869G>A	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"ADAM metallopeptidase domain containing"	190	protein-coding gene	gene with protein product	"meltrin alpha"	602714	"a disintegrin and metalloproteinase domain 12 (meltrin alpha)"			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.1879C>T	10.37:g.127737869G>A	ENSP00000357668:p.Pro627Ser					ADAM12_ENST00000368676.4_Missense_Mutation_p.P627S	p.P627S	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	16	2188	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	627			Cys-rich.		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	c.1879C>T	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.104243	0.76983	.	.	ENSG00000148848	ENST00000368679;ENST00000368676	T;T	0.21191	2.02;2.02	4.9	4.9	0.64082	ADAM, cysteine-rich (2);	0.000000	0.85682	D	0.000000	T	0.37489	0.1005	L	0.42008	1.315	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	1.0;0.999;0.999;0.999;1.0	T	0.03534	-1.1027	10	0.14252	T	0.57	.	18.2825	0.90103	0.0:0.0:1.0:0.0	.	624;624;627;624;627	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	S	627	ENSP00000357668:P627S;ENSP00000357665:P627S	ENSP00000357665:P627S	P	-	1	0	ADAM12	127727859	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.806000	0.86020	2.548000	0.85928	0.655000	0.94253	CCG		0.527	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			5	239	0	0	0	0.014758	0	5	239					A	127737869	G	A	127737869	3	1	289	1	0	0	0	0	1	0	0	0	236	1203	42	2	990	2	ADAM12	10	127737869	Missense_Mutation	SNP	G	TCGA-EM-A22Q-01A-11D-A17V-08		127737869	7796878	8	6222											
MRGPRX1	259249	broad.mit.edu	37	chr11	18956323	18956323	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccaaggttgagatggtTggatccatgctcagaaaccc	12	9	1	2			TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr11:18956323T>A	ENST00000302797.3	-	1	233	c.9A>T	c.(7-9)ccA>ccT	p.P3P	RP11-583F24.8_ENST00000528646.1_RNA|MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	3					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTGAGATGGTTGGATCCATGC	0.517																																						ENST00000302797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(7-9)ccA>ccT		MAS-related GPR, member X1							255	243	247					11																	18956323		2194	4286	6480	SO:0001819	synonymous_variant	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18956323T>A		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"GPCR / Class A : Orphans"	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.9A>T	11.37:g.18956323T>A						MRGPRX1_ENST00000526914.1_5'UTR	p.P3P	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN			1	233	-			3					Q4V9L2|Q8TDD8|Q8TDD9	Silent	SNP	ENST00000302797.3	37	c.9A>T	CCDS7846.1																																																																																				0.517	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		60	114	0	0	0	0.01441	0	60	114					A	18956323	T	A	18956323	2	1	289	1	0	0	0	0	0	0	0	1	9766	1799	63	5		5	MRGPRX1	11	18956323	Silent	SNP	T	TCGA-EM-A22Q-01A-11D-A17V-08		18956323	116050193	9	6223											
RBM7	10179	broad.mit.edu	37	chr11	114271421	114271421	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggcggcggcggaagcggatCgcactctctttgtgggcaac	16	12	1	0	rs376690569		TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr11:114271421C>T	ENST00000540163.1	+	1	670	c.28C>T	c.(28-30)Cgc>Tgc	p.R10C	RP11-212D19.4_ENST00000544347.1_Silent_p.I6I|RBM7_ENST00000545678.1_5'UTR|RBM7_ENST00000375490.5_Missense_Mutation_p.R10C|RBM7_ENST00000544582.1_Missense_Mutation_p.R10C|RBM7_ENST00000541475.1_Missense_Mutation_p.R10C|C11orf71_ENST00000325636.4_5'Flank			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	10	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				meiotic nuclear division (GO:0007126)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		GGAAGCGGATCGCACTCTCTT	0.627													C|||	1	0.000199681	0	0	5008	,	,		15355	0		0	False		,,,				2504	0.001					ENST00000541475.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(28-30)Cgc>Tgc		RNA binding motif protein 7		C	CYS/ARG	0,4402		0,0,2201	52	56	55		28	3.9	0.4	11		55	1,8591	1.2+/-3.3	0,1,4295	no	missense	RBM7	NM_016090.2	180	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	10/267	114271421	1,12993	2201	4296	6497	SO:0001583	missense	10179				meiosis		nucleotide binding|protein binding|RNA binding	g.chr11:114271421C>T	AF156098	CCDS8370.1, CCDS66233.1, CCDS73395.1	11q23.1-q23.2	2013-02-12			ENSG00000076053	ENSG00000076053		"RNA binding motif (RRM) containing"	9904	protein-coding gene	gene with protein product		612413				12477932	Standard	NM_001286045		Approved		uc001pov.3	Q9Y580		ENST00000540163.1:c.28C>T	11.37:g.114271421C>T	ENSP00000439918:p.Arg10Cys					RP11-212D19.4_ENST00000544347.1_Silent_p.I6I|RBM7_ENST00000540163.1_Missense_Mutation_p.R10C|RBM7_ENST00000375490.5_Missense_Mutation_p.R10C|RBM7_ENST00000545678.1_5'UTR|RBM7_ENST00000544582.1_Missense_Mutation_p.R10C	p.R10C			Q9Y580	RBM7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)	1	93	+		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)	10			RRM.		B2R6K8|Q9NUT4	Missense_Mutation	SNP	ENST00000540163.1	37	c.28C>T	CCDS8370.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012317	0.54468	0.0	1.16E-4	ENSG00000076053	ENST00000540163;ENST00000375490;ENST00000541475;ENST00000544582	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	5.8	3.94	0.45596	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.227351	0.46758	N	0.000268	T	0.65165	0.2665	L	0.56340	1.77	0.80722	D	1	B;P	0.37061	0.293;0.58	B;B	0.27715	0.057;0.082	T	0.66276	-0.5964	10	0.87932	D	0	-3.2611	11.1642	0.48533	0.0:0.8512:0.0:0.1488	.	10;10	Q6IRX3;Q9Y580	.;RBM7_HUMAN	C	10	ENSP00000439918:R10C;ENSP00000364639:R10C;ENSP00000440949:R10C;ENSP00000440923:R10C	ENSP00000364639:R10C	R	+	1	0	RBM7	113776631	1.000000	0.71417	0.366000	0.25914	0.267000	0.26476	2.396000	0.44468	0.811000	0.34303	0.655000	0.94253	CGC		0.627	RBM7-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399010.1	NM_016090		23	51	0	0	0	0.021523	0	23	51					T	114271421	C	T	114271421	3	4	289	1	0	0	0	0	1	0	0	0	13145	884	31	1	30	1	RBM7	11	114271421	Missense_Mutation	SNP	C	TCGA-EM-A22Q-01A-11D-A17V-08	95315098	114271421	20735095	10	6224											
SPRYD4	283377	broad.mit.edu	37	chr12	56862411	56862411	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacgttctttgcgcttgtgCcgctggggagccaaacgatt	13	11	1	0			TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr12:56862411C>T	ENST00000338146.5	+	1	111	c.36C>T	c.(34-36)tgC>tgT	p.C12C	MIP_ENST00000555551.1_Intron	NM_207344.3	NP_997227	Q8WW59	SPRY4_HUMAN	SPRY domain containing 4	12	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)	7						TGCGCTTGTGCCGCTGGGGAG	0.567																																						ENST00000338146.5																			0				kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)	7						c.(34-36)tgC>tgT		SPRY domain containing 4							136	125	129					12																	56862411		2203	4300	6503	SO:0001819	synonymous_variant	283377					nucleus		g.chr12:56862411C>T	AL832247	CCDS8920.1	12q13.3	2006-03-09				ENSG00000176422			27468	protein-coding gene	gene with protein product							Standard	NM_207344		Approved	DKFZp686N0877	uc001sli.4	Q8WW59		ENST00000338146.5:c.36C>T	12.37:g.56862411C>T						MIP_ENST00000555551.1_Intron	p.C12C	NM_207344.3	NP_997227.1	Q8WW59	SPRY4_HUMAN			1	111	+			12			B30.2/SPRY.		A8K7A5	Silent	SNP	ENST00000338146.5	37	c.36C>T	CCDS8920.1																																																																																				0.567	SPRYD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_207344		4	112	0	0	0	0.014758	0	4	112					T	56862411	C	T	56862411	2	4	289	1	0	0	0	0	0	0	0	1	15109	747	26	2		2	SPRYD4	12	56862411	Silent	SNP	C	TCGA-EM-A22Q-01A-11D-A17V-08		56862411	76989484	11	6225											
SIPA1L1	26037	broad.mit.edu	37	chr14	72202102	72202102	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctggcccagatgaagccttAcagcaggttggtcccagtgc	12	12	1	2			TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr14:72202102A>G	ENST00000555818.1	+	20	5528	c.5180A>G	c.(5179-5181)tAc>tGc	p.Y1727C	SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.Y1181C|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.Y1706C|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.Y1706C	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1727					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ATGAAGCCTTACAGCAGGTTG	0.542																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(5179-5181)tAc>tGc		signal-induced proliferation-associated 1 like 1							114	100	105					14																	72202102		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72202102A>G	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.5180A>G	14.37:g.72202102A>G	ENSP00000450832:p.Tyr1727Cys					SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.Y1706C|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.Y1181C|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.Y1706C	p.Y1727C	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	20	5528	+			1727					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.5180A>G	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	A	12.59	1.985068	0.35036	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.15	3.99	0.46301	.	0.274240	0.39985	N	0.001214	T	0.43456	0.1248	L	0.36672	1.1	0.28891	N	0.893857	D;D;D;D;D	0.89917	0.999;0.999;0.982;0.991;1.0	P;D;P;P;D	0.83275	0.871;0.996;0.885;0.838;0.995	T	0.35649	-0.9780	10	0.39692	T	0.17	-15.8791	12.4729	0.55797	0.8733:0.0:0.0:0.1267	.	1181;1727;1181;1706;1727	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	C	1706;1727;1706;1181	ENSP00000370630:Y1706C;ENSP00000450832:Y1727C;ENSP00000351352:Y1706C;ENSP00000440682:Y1181C	ENSP00000351352:Y1727C	Y	+	2	0	SIPA1L1	71271855	1.000000	0.71417	0.524000	0.27887	0.659000	0.38960	4.095000	0.57728	0.363000	0.24346	-1.426000	0.01102	TAC		0.542	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		9	79	0	0	0	0.004482	0	9	79					G	72202102	A	G	72202102	3	3	289	1	0	0	0	0	1	0	0	0	14329	391	14	3	5254	3	SIPA1L1	14	72202102	Missense_Mutation	SNP	A	TCGA-EM-A22Q-01A-11D-A17V-08		72202102	35147438	12	6226											
ZNF480	147657	broad.mit.edu	37	chr19	52817523	52817523	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggagaactacaggaacctgGtctccctgggtgaggatcat	13	9	2	2			TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr19:52817523G>T	ENST00000595962.1	+	3	256	c.190G>T	c.(190-192)Gtc>Ttc	p.V64F	ZNF480_ENST00000334564.7_Missense_Mutation_p.V64F|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_Intron|ZNF480_ENST00000335090.6_Intron	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	64	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		CAGGAACCTGGTCTCCCTGGG	0.542																																						ENST00000595962.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(190-192)Gtc>Ttc		zinc finger protein 480							112	104	107					19																	52817523		2203	4300	6503	SO:0001583	missense	147657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:52817523G>T	AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"Zinc fingers, C2H2-type", "-"	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.190G>T	19.37:g.52817523G>T	ENSP00000471754:p.Val64Phe					ZNF480_ENST00000335090.6_Intron|ZNF480_ENST00000490272.1_Intron|ZNF480_ENST00000334564.7_Missense_Mutation_p.V64F|CTD-2525I3.6_ENST00000594379.1_RNA	p.V64F	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN		GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)	3	256	+			64			KRAB.		Q5JPG9|Q6P0Q4|Q8N1M5	Missense_Mutation	SNP	ENST00000595962.1	37	c.190G>T	CCDS12850.2	.	.	.	.	.	.	.	.	.	.	G	7.829	0.719438	0.15372	.	.	ENSG00000198464	ENST00000354515;ENST00000468240;ENST00000334564	T;T	0.02301	4.35;4.35	2.04	-0.455	0.12193	Krueppel-associated box (4);	.	.	.	.	T	0.03564	0.0102	M	0.88181	2.935	0.09310	N	0.999999	P;B	0.47484	0.896;0.071	B;B	0.35813	0.211;0.062	T	0.31223	-0.9951	9	0.59425	D	0.04	.	2.7546	0.05289	0.3318:0.2535:0.4147:0.0	.	64;64	F8WEZ9;Q8WV37	.;ZN480_HUMAN	F	86;64;64	ENSP00000417424:V64F;ENSP00000334164:V64F	ENSP00000334164:V64F	V	+	1	0	ZNF480	57509335	0.000000	0.05858	0.423000	0.26634	0.132000	0.20833	-1.633000	0.02022	-0.205000	0.10219	0.508000	0.49915	GTC		0.542	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	NM_144684		34	83	1	0	1.61788e-16	0.012213	2.50036e-16	34	83					T	52817523	G	T	52817523	3	4	289	1	0	0	0	0	1	0	0	0	17932	1261	44	4	196	4	ZNF480	19	52817523	Missense_Mutation	SNP	G	TCGA-EM-A22Q-01A-11D-A17V-08		52817523	6311460	13	6227											
CCDC27	148870	broad.mit.edu	37	chr1	3677920	3677920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctgctccaggaggagaggGaggccctgaagatgcagctg	17	9	0	3			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr1:3677920G>A	ENST00000294600.2	+	5	871	c.787G>A	c.(787-789)Gag>Aag	p.E263K		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	263										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GGAGGAGAGGGAGGCCCTGAA	0.592																																						ENST00000294600.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36						c.(787-789)Gag>Aag		coiled-coil domain containing 27							80	76	78					1																	3677920		2203	4300	6503	SO:0001583	missense	148870							g.chr1:3677920G>A		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.787G>A	1.37:g.3677920G>A	ENSP00000294600:p.Glu263Lys						p.E263K	NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	5	871	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	263					Q5TBV3|Q96M50	Missense_Mutation	SNP	ENST00000294600.2	37	c.787G>A	CCDS50.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.452402	0.43531	.	.	ENSG00000162592	ENST00000294600	T	0.22134	1.97	3.75	3.75	0.43078	.	0.000000	0.43579	D	0.000551	T	0.32793	0.0841	L	0.32530	0.975	0.33532	D	0.59374	D	0.89917	1.0	D	0.83275	0.996	T	0.42632	-0.9440	10	0.56958	D	0.05	-36.4106	11.808	0.52167	0.0:0.0:1.0:0.0	.	263	Q2M243	CCD27_HUMAN	K	263	ENSP00000294600:E263K	ENSP00000294600:E263K	E	+	1	0	CCDC27	3667780	1.000000	0.71417	0.589000	0.28718	0.380000	0.30137	2.879000	0.48522	2.059000	0.61396	0.563000	0.77884	GAG		0.592	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		8	71	0	0	0	0.000157383	0	8	71					A	3677920	G	A	3677920	3	1	290	1	0	0	0	0	1	0	0	0	2801	1175	41	2	805	2	CCDC27	1	3677920	Missense_Mutation	SNP	G	TCGA-EM-A2CJ-01A-11D-A17V-08		3677920	245572701	1	6228											
FRRS1	391059	broad.mit.edu	37	chr1	100181191	100181191	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcataacaaaagcaatgcagGtgaggacagttgtggtgaac	13	6	0	2			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr1:100181191G>T	ENST00000414213.1	-	12	1875	c.1274C>A	c.(1273-1275)aCc>aAc	p.T425N	FRRS1_ENST00000492943.1_5'UTR|FRRS1_ENST00000287474.5_Missense_Mutation_p.T425N			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	425	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.					integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		AGCAATGCAGGTGAGGACAGT	0.373																																						ENST00000414213.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26						c.(1273-1275)aCc>aAc		ferric-chelate reductase 1							108	104	105					1																	100181191		2203	4300	6503	SO:0001583	missense	391059				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding	g.chr1:100181191G>T	AK131302	CCDS30780.1	1p21.3	2009-11-30	2006-02-22	2006-02-22	ENSG00000156869	ENSG00000156869			27622	protein-coding gene	gene with protein product		611578	"stromal cell derived factor receptor 2 homolog (mouse)"	SDFR2			Standard	NM_001013660		Approved	SDR2	uc001dsh.1	Q6ZNA5	OTTHUMG00000010768	ENST00000414213.1:c.1274C>A	1.37:g.100181191G>T	ENSP00000393884:p.Thr425Asn					FRRS1_ENST00000492943.1_5'UTR|FRRS1_ENST00000287474.5_Missense_Mutation_p.T425N	p.T425N			Q6ZNA5	FRRS1_HUMAN		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)	12	1875	-		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)	425			Cytochrome b561.		A6NLN7	Missense_Mutation	SNP	ENST00000414213.1	37	c.1274C>A		.	.	.	.	.	.	.	.	.	.	G	17.23	3.335587	0.60853	.	.	ENSG00000156869	ENST00000414213;ENST00000287474	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.81216	0.4776	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.80264	-0.1455	9	0.40728	T	0.16	-16.6896	18.2491	0.89997	0.0:0.0:1.0:0.0	.	425	Q6ZNA5-2	.	N	425	.	ENSP00000287474:T425N	T	-	2	0	FRRS1	99953779	1.000000	0.71417	0.995000	0.50966	0.288000	0.27193	6.546000	0.73887	2.718000	0.92993	0.460000	0.39030	ACC		0.373	FRRS1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001013660		23	59	1	0	2.41591e-17	0.000720815	1.65145e-15	23	59					T	100181191	G	T	100181191	3	4	290	1	0	0	0	0	1	0	0	0	6060	1261	44	4	630	4	FRRS1	1	100181191	Missense_Mutation	SNP	G	TCGA-EM-A2CJ-01A-11D-A17V-08	96503271	100181191	149069430	2	6229											
SH2D2A	9047	broad.mit.edu	37	chr1	156777073	156777073	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaggcgggtgggggctggTggggcaggggagggccttgc	24	8	0	0			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr1:156777073T>G	ENST00000368199.3	-	8	1220	c.1067A>C	c.(1066-1068)cAc>cCc	p.H356P	SH2D2A_ENST00000392306.2_Missense_Mutation_p.H366P|SH2D2A_ENST00000368198.3_Missense_Mutation_p.H338P	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	356	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)					TGGGGGCTGGTGGGGCAGGGG	0.597																																						ENST00000392306.2																			0				endometrium(1)|large_intestine(2)|lung(15)	18						c.(1096-1098)cAc>cCc		SH2 domain containing 2A							16	18	17					1																	156777073		2201	4299	6500	SO:0001583	missense	9047				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:156777073T>G	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.1067A>C	1.37:g.156777073T>G	ENSP00000357182:p.His356Pro					SH2D2A_ENST00000368199.3_Missense_Mutation_p.H356P|SH2D2A_ENST00000368198.3_Missense_Mutation_p.H338P	p.H366P	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN			8	1236	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		356			Pro-rich.		O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Missense_Mutation	SNP	ENST00000368199.3	37	c.1097A>C	CCDS1159.1	.	.	.	.	.	.	.	.	.	.	T	7.673	0.687372	0.14973	.	.	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	T;T;T	0.57107	0.45;0.42;0.87	4.24	1.63	0.23807	.	2.261830	0.01799	N	0.032797	T	0.21761	0.0524	L	0.27053	0.805	0.09310	N	1	P;B;B	0.35982	0.531;0.396;0.396	B;B;B	0.37833	0.259;0.133;0.094	T	0.18650	-1.0330	10	0.49607	T	0.09	-4.3545	4.3832	0.11304	0.2016:0.0:0.2094:0.5889	.	366;338;356	Q9NP31-2;Q5VZS4;Q9NP31	.;.;SH22A_HUMAN	P	356;338;366	ENSP00000357182:H356P;ENSP00000357181:H338P;ENSP00000376123:H366P	ENSP00000357181:H338P	H	-	2	0	SH2D2A	155043697	0.049000	0.20398	0.024000	0.17045	0.664000	0.39144	0.065000	0.14466	0.745000	0.32763	0.374000	0.22700	CAC		0.597	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975		6	9	0	0	0	0.000274275	0	6	9					G	156777073	T	G	156777073	3	3	290	1	0	0	0	0	1	0	0	0	14232	1696	59	5	106	5	SH2D2A	1	156777073	Missense_Mutation	SNP	T	TCGA-EM-A2CJ-01A-11D-A17V-08	56595882	156777073	92473548	3	6230											
IFI16	3428	broad.mit.edu	37	chr1	158990261	158990261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctccaacttttctgctttcGacttagaaaaaagaaccaga	6	10	1	3			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr1:158990261G>A	ENST00000295809.7	+	6	1358	c.1103G>A	c.(1102-1104)cGa>cAa	p.R368Q	IFI16_ENST00000368132.3_Missense_Mutation_p.R368Q|IFI16_ENST00000340979.6_Missense_Mutation_p.R368Q|IFI16_ENST00000448393.2_Missense_Mutation_p.R368Q|IFI16_ENST00000359709.3_Missense_Mutation_p.R312Q|IFI16_ENST00000430894.2_Missense_Mutation_p.R316Q|IFI16_ENST00000368131.4_Missense_Mutation_p.R368Q			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	368	HIN-200 1. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 C-terminus.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TTCTGCTTTCGACTTAGAAAA	0.358																																						ENST00000295809.7																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1102-1104)cGa>cAa		interferon, gamma-inducible protein 16							79	90	86					1																	158990261		2203	4300	6503	SO:0001583	missense	3428				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:158990261G>A	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.1103G>A	1.37:g.158990261G>A	ENSP00000295809:p.Arg368Gln					IFI16_ENST00000340979.6_Missense_Mutation_p.R368Q|IFI16_ENST00000368132.3_Missense_Mutation_p.R368Q|IFI16_ENST00000368131.4_Missense_Mutation_p.R368Q|IFI16_ENST00000359709.3_Missense_Mutation_p.R312Q|IFI16_ENST00000448393.2_Missense_Mutation_p.R368Q|IFI16_ENST00000430894.2_Missense_Mutation_p.R316Q	p.R368Q			Q16666	IF16_HUMAN			6	1358	+	all_hematologic(112;0.0429)		368			HIN-200 1.		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	ENST00000295809.7	37	c.1103G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.91|10.91	1.485342|1.485342	0.26686|0.26686	.|.	.|.	ENSG00000163565|ENSG00000163565	ENST00000448393|ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	.|T;T;T;T;T	.|0.13778	.|2.56;2.56;2.56;2.56;2.56	2.64|2.64	-1.94|-1.94	0.07571|0.07571	.|.	.|.	.|.	.|.	.|.	T|T	0.01489|0.01489	0.0048|0.0048	N|N	0.21142|0.21142	0.635|0.635	0.09310|0.09310	N|N	1|1	.|P;P	.|0.36633	.|0.562;0.507	.|B;B	.|0.29524	.|0.103;0.063	T|T	0.43766|0.43766	-0.9371|-0.9371	5|9	.|0.08837	.|T	.|0.75	.|.	6.0461|6.0461	0.19760|0.19760	0.6069:0.0:0.3931:0.0|0.6069:0.0:0.3931:0.0	.|.	.|316;368	.|E7EPR3;Q16666-2	.|.;.	N|Q	189|368;368;368;368;316	.|ENSP00000295809:R368Q;ENSP00000342741:R368Q;ENSP00000357113:R368Q;ENSP00000357114:R368Q;ENSP00000394935:R316Q	.|ENSP00000295809:R368Q	D|R	+|+	1|2	0|0	IFI16|IFI16	157256885|157256885	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.008000|0.008000	0.06430|0.06430	0.010000|0.010000	0.13242|0.13242	-0.572000|-0.572000	0.06006|0.06006	-0.258000|-0.258000	0.10820|0.10820	GAC|CGA		0.358	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		42	43	0	0	0	0.000319135	0	42	43					A	158990261	G	A	158990261	3	1	290	1	0	0	0	0	1	0	0	0	7511	1058	37	1	1121	1	IFI16	1	158990261	Missense_Mutation	SNP	G	TCGA-EM-A2CJ-01A-11D-A17V-08	2213188	158990261	90260360	4	6231											
FAM5C	339479	broad.mit.edu	37	chr1	190129933	190129933	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcataacggcgctgaaaaTtagaatccattgtccacaaa	7	9	1	2			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr1:190129933T>G	ENST00000367462.3	-	7	1280	c.1049A>C	c.(1048-1050)aAt>aCt	p.N350T	BRINP3_ENST00000534846.1_Missense_Mutation_p.N248T	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	350					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											GCGCTGAAAATTAGAATCCAT	0.353																																						ENST00000367462.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(1048-1050)aAt>aCt									121	130	127					1																	190129933		2203	4300	6503	SO:0001583	missense	0					extracellular region		g.chr1:190129933T>G	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"family with sequence similarity 5, member C"	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1049A>C	1.37:g.190129933T>G	ENSP00000356432:p.Asn350Thr					FAM5C_ENST00000534846.1_Missense_Mutation_p.N248T|FAM5C_ENST00000484105.1_5'UTR	p.N350T	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN			7	1280	-	Prostate(682;0.198)		350					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.1049A>C	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	T	11.84	1.759336	0.31137	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.17370	2.54;2.28	5.75	3.39	0.38822	.	0.486595	0.22677	N	0.056995	T	0.12263	0.0298	L	0.38175	1.15	0.30360	N	0.783922	B;B	0.15141	0.008;0.012	B;B	0.14023	0.01;0.005	T	0.20706	-1.0267	10	0.20519	T	0.43	.	8.3029	0.32025	0.0:0.1718:0.0:0.8282	.	248;350	B7Z260;Q76B58	.;FAM5C_HUMAN	T	350;248	ENSP00000356432:N350T;ENSP00000438022:N248T	ENSP00000356432:N350T	N	-	2	0	FAM5C	188396556	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.028000	0.30128	0.426000	0.26116	0.467000	0.42956	AAT		0.353	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		4	134	0	0	0	0.000602214	0	4	134					G	190129933	T	G	190129933	3	3	290	1	0	0	0	0	1	0	0	0	5594	1493	52	5	1259	5	FAM5C	1	190129933	Missense_Mutation	SNP	T	TCGA-EM-A2CJ-01A-11D-A17V-08	31139672	190129933	59120688	5	6232											
MIA3	375056	broad.mit.edu	37	chr1	222825616	222825616	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttagtgaagagaaggtgaAgtctgaatgccatcgggttc	14	6	1	4			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr1:222825616A>C	ENST00000344922.5	+	13	4053	c.4028A>C	c.(4027-4029)aAg>aCg	p.K1343T	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.K1343T|MIA3_ENST00000340535.7_Missense_Mutation_p.K221T	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1343					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GAGAAGGTGAAGTCTGAATGC	0.378																																						ENST00000344922.5																			0				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80						c.(4027-4029)aAg>aCg		melanoma inhibitory activity family, member 3							164	157	159					1																	222825616		1865	4100	5965	SO:0001583	missense	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222825616A>C		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"C219 reactive peptide", "transport and golgi organization"	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.4028A>C	1.37:g.222825616A>C	ENSP00000340900:p.Lys1343Thr					MIA3_ENST00000340535.7_Missense_Mutation_p.K221T|MIA3_ENST00000344441.6_Missense_Mutation_p.K1343T|MIA3_ENST00000344507.1_Intron	p.K1343T	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	13	4053	+			1343					A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.4028A>C	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.179133	0.78564	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000340535;ENST00000284471	T;T;T	0.71222	-0.55;-0.55;-0.55	5.89	4.77	0.60923	.	.	.	.	.	T	0.78824	0.4344	M	0.68593	2.085	0.37709	D	0.924511	D;D	0.69078	0.985;0.997	P;D	0.63957	0.842;0.92	T	0.80495	-0.1357	9	0.46703	T	0.11	.	9.0893	0.36601	0.8591:0.0:0.1409:0.0	.	221;1343	Q5JRA6-4;Q5JRA6	.;MIA3_HUMAN	T	1343;1343;221;221	ENSP00000340900:K1343T;ENSP00000340587:K1343T;ENSP00000345866:K221T	ENSP00000284471:K221T	K	+	2	0	MIA3	220892239	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.525000	0.53502	1.056000	0.40484	0.533000	0.62120	AAG		0.378	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		6	103	0	0	0	0.000274275	0	6	103					C	222825616	A	C	222825616	3	2	290	1	0	0	0	0	1	0	0	0	9565	72	3	5	4078	5	MIA3	1	222825616	Missense_Mutation	SNP	A	TCGA-EM-A2CJ-01A-11D-A17V-08	32695683	222825616	26425005	6	6233											
BCL11A	53335	broad.mit.edu	37	chr2	60688968	60688969	+	Frame_Shift_Ins	INS	-	-	G													ggcggattgcagaggagggaINSgggggggcgtcgccaggaag							TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr2:60688968_60688969insG	ENST00000335712.6	-	4	1305_1306	c.1078_1079insC	c.(1078-1080)ctcfs	p.L360fs	BCL11A_ENST00000356842.4_Frame_Shift_Ins_p.L360fs|BCL11A_ENST00000538214.1_Frame_Shift_Ins_p.L326fs|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000358510.4_Frame_Shift_Ins_p.L326fs|BCL11A_ENST00000359629.5_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	360	Pro-rich.				B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|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)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CAGAGGAGGGAGGGGGGGCGTC	0.634			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(1078-1080)cccfs		B-cell CLL/lymphoma 11A (zinc finger protein)																																				SO:0001589	frameshift_variant	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688968_60688969insG	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"Zinc fingers, C2H2-type"	13221	protein-coding gene	gene with protein product		606557	"ecotropic viral integration site 9"	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1079dupC	2.37:g.60688975_60688975dupG	ENSP00000338774:p.Leu360fs					BCL11A_ENST00000358510.4_Frame_Shift_Ins_p.P326fs|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Frame_Shift_Ins_p.P360fs|BCL11A_ENST00000538214.1_Frame_Shift_Ins_p.P326fs	p.P360fs	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1305_1306	-			360			Pro-rich.		D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Frame_Shift_Ins	INS	ENST00000335712.6	37	c.1078_1079insC	CCDS1862.1																																																																																				0.634	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		8	138						8	138	---	---	---	---	G	60688969	-	G	60688968	7	5	290	1	0	1	1	0	0	0	0	0	1363	304	11	0	1538	0	BCL11A	2	60688968	Frame_Shift_Ins	INS	-	TCGA-EM-A2CJ-01A-11D-A17V-08		60688968	182510405	7	6234											
ATF6B	1388	broad.mit.edu	37	chr6	32083526	32083526	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggcagaggtcagggatgaTtgaggtagaggggctggtgg	21	3	1	4			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr6:32083526T>C	ENST00000375203.3	-	18	2134	c.2102A>G	c.(2101-2103)aAt>aGt	p.N701S	ATF6B_ENST00000375201.4_Missense_Mutation_p.N698S	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	701					response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TCAGGGATGATTGAGGTAGAG	0.612																																						ENST00000375201.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						c.(2092-2094)aAt>aGt		activating transcription factor 6 beta							65	74	71					6																	32083526		2203	4300	6503	SO:0001583	missense	1388				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:32083526T>C		CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"basic leucine zipper proteins"	2349	protein-coding gene	gene with protein product		600984	"cAMP responsive element binding protein-like 1"	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.2102A>G	6.37:g.32083526T>C	ENSP00000364349:p.Asn701Ser					ATF6B_ENST00000375203.3_Missense_Mutation_p.N701S	p.N698S			Q99941	ATF6B_HUMAN			18	2138	-			701					B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Missense_Mutation	SNP	ENST00000375203.3	37	c.2093A>G	CCDS4737.1	.	.	.	.	.	.	.	.	.	.	t	6.719	0.501432	0.12822	.	.	ENSG00000213676	ENST00000375203;ENST00000375201	T;T	0.55052	0.54;1.28	5.32	2.67	0.31697	.	0.917755	0.08960	U	0.868870	T	0.11922	0.0290	N	0.08118	0	0.24507	N	0.994222	B;B	0.09022	0.002;0.001	B;B	0.10450	0.005;0.002	T	0.25779	-1.0122	10	0.28530	T	0.3	-3.3207	5.223	0.15379	0.0:0.2687:0.0:0.7313	.	698;701	Q99941-2;Q99941	.;ATF6B_HUMAN	S	701;698	ENSP00000364349:N701S;ENSP00000364347:N698S	ENSP00000364347:N698S	N	-	2	0	ATF6B	32191504	0.026000	0.19158	0.963000	0.40424	0.007000	0.05969	-0.084000	0.11268	0.985000	0.38656	0.456000	0.33151	AAT		0.612	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2			5	113	0	0	0	0.000602214	0	5	113					C	32083526	T	C	32083526	3	2	290	1	0	0	0	0	1	0	0	0	1085	1493	52	3	13	3	ATF6B	6	32083526	Missense_Mutation	SNP	T	TCGA-EM-A2CJ-01A-11D-A17V-08		32083526	139031541	8	6235											
ABCC10	89845	broad.mit.edu	37	chr6	43400340	43400340	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aggagcccctcctgcccgagGatcaagaacctgaggtggct	13	13	1	2			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr6:43400340G>T	ENST00000372530.4	+	3	837	c.622G>T	c.(622-624)Gat>Tat	p.D208Y	ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000244533.3_Missense_Mutation_p.D165Y	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	208				D -> E (in Ref. 1; AAK39642). {ECO:0000305}.	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)	CCTGCCCGAGGATCAAGAACC	0.637																																						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.(493-495)Gat>Tat		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							72	74	73					6																	43400340		2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43400340G>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.622G>T	6.37:g.43400340G>T	ENSP00000361608:p.Asp208Tyr					ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000372530.4_Missense_Mutation_p.D208Y	p.D165Y	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	852	+	all_lung(25;0.00536)		208					Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.493G>T	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	G	2.968	-0.213134	0.06140	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.91577	-2.87;-2.84	5.54	1.59	0.23543	.	2.215120	0.01480	N	0.016644	T	0.64249	0.2581	N	0.08118	0	0.09310	N	1	P;B	0.39696	0.683;0.013	B;B	0.37198	0.243;0.015	T	0.68637	-0.5356	10	0.52906	T	0.07	-18.0169	1.2484	0.01977	0.3857:0.1843:0.2989:0.131	.	165;208	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	Y	208;165	ENSP00000361608:D208Y;ENSP00000244533:D165Y	ENSP00000244533:D165Y	D	+	1	0	ABCC10	43508318	0.000000	0.05858	0.016000	0.15963	0.098000	0.18820	-0.051000	0.11885	0.294000	0.22547	-0.291000	0.09656	GAT		0.637	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		18	135	1	0	1.99824e-07	0.000566183	1.27487e-05	18	135					T	43400340	G	T	43400340	3	4	290	1	0	0	0	0	1	0	0	0	50	1174	41	4	495	4	ABCC10	6	43400340	Missense_Mutation	SNP	G	TCGA-EM-A2CJ-01A-11D-A17V-08	11316814	43400340	127714727	9	6236											
TTC16	158248	broad.mit.edu	37	chr9	130487098	130487098	+	Frame_Shift_Del	DEL	T	T	-													ctaccagcaggcgctggcgcTgagccctcaggacgagggcg							TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr9:130487098delT	ENST00000373289.3	+	9	1261	c.1181delT	c.(1180-1182)ctgfs	p.L394fs	TTC16_ENST00000393748.4_3'UTR|TTC16_ENST00000489226.1_Intron|PTRH1_ENST00000429848.1_5'UTR|PTRH1_ENST00000419060.1_5'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	394										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GCGCTGGCGCTGAGCCCTCAG	0.682																																						ENST00000373289.3																			0				central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						c.(1180-1182)cgfs		tetratricopeptide repeat domain 16							13	12	12					9																	130487098		2188	4285	6473	SO:0001589	frameshift_variant	158248						binding	g.chr9:130487098delT	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"Tetratricopeptide (TTC) repeat domain containing"	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.1181delT	9.37:g.130487098delT	ENSP00000362386:p.Leu394fs					TTC16_ENST00000393748.4_3'UTR|PTRH1_ENST00000429848.1_5'UTR|TTC16_ENST00000489226.1_Intron|PTRH1_ENST00000419060.1_5'UTR	p.L394fs	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN			9	1261	+			394					B4DYG4|B5ME24|Q5JU66|Q96M72	Frame_Shift_Del	DEL	ENST00000373289.3	37	c.1181delT	CCDS6875.1																																																																																				0.682	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965		15	14						15	14	---	---	---	---	-	130487098	T	-	130487098	7	5	290	1	0	1	0	1	0	0	0	0	16680	1580	55	0	1215	0	TTC16	9	130487098	Frame_Shift_Del	DEL	T	TCGA-EM-A2CJ-01A-11D-A17V-08		130487098	10726333	10	6237											
RRP12	23223	broad.mit.edu	37	chr10	99125892	99125892	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accttcctcttcctccatctTgttgccgtctgcctcctccc	4	20	3	0			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr10:99125892T>C	ENST00000370992.4	-	29	3601	c.3490A>G	c.(3490-3492)Aag>Gag	p.K1164E	RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Missense_Mutation_p.K1103E|RRP12_ENST00000536831.1_Missense_Mutation_p.K882E|RRP12_ENST00000315563.6_Missense_Mutation_p.K1064E	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1164						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TCCTCCATCTTGTTGCCGTCT	0.597																																						ENST00000370992.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(3490-3492)Aag>Gag		ribosomal RNA processing 12 homolog (S. cerevisiae)							213	164	181					10																	99125892		2203	4300	6503	SO:0001583	missense	23223					integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr10:99125892T>C		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"KIAA0690"	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.3490A>G	10.37:g.99125892T>C	ENSP00000360031:p.Lys1164Glu					RRP12_ENST00000315563.6_Missense_Mutation_p.K1064E|RRP12_ENST00000536831.1_Missense_Mutation_p.K882E|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Missense_Mutation_p.K1103E	p.K1164E	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)	29	3601	-		Colorectal(252;0.162)	1164					B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	c.3490A>G	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	T	0.023	-1.404793	0.01155	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.31510	1.51;1.49;1.51;1.49	5.14	1.21	0.21127	.	0.815472	0.11081	N	0.601849	T	0.11196	0.0273	N	0.04880	-0.145	0.09310	N	1	B;B;B;B	0.28933	0.0;0.228;0.001;0.004	B;B;B;B	0.28011	0.001;0.085;0.003;0.002	T	0.31280	-0.9949	10	0.05351	T	0.99	-13.4232	5.9372	0.19173	0.0:0.141:0.3597:0.4993	.	1103;1064;882;1164	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	E	1164;1064;1103;882	ENSP00000360031:K1164E;ENSP00000324315:K1064E;ENSP00000414863:K1103E;ENSP00000446184:K882E	ENSP00000324315:K1064E	K	-	1	0	RRP12	99115882	0.059000	0.20769	0.550000	0.28217	0.062000	0.15995	1.490000	0.35573	0.382000	0.24878	0.454000	0.30748	AAG		0.597	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		5	151	0	0	0	3.59834e-05	0	5	151					C	99125892	T	C	99125892	3	2	290	1	0	0	0	0	1	0	0	0	13686	1821	63	3	427	3	RRP12	10	99125892	Missense_Mutation	SNP	T	TCGA-EM-A2CJ-01A-11D-A17V-08		99125892	36408855	11	6238											
TRPM5	29850	broad.mit.edu	37	chr11	2433483	2433483	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtcctcgtctgtgaagaagcCctgggagggaggtgggcagt	18	8	1	2			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr11:2433483C>G	ENST00000155858.6	-	16	2364	c.2356G>C	c.(2356-2358)Ggc>Cgc	p.G786R	TRPM5_ENST00000452833.1_Splice_Site_p.G788R|TRPM5_ENST00000533060.1_Splice_Site_p.G786R|TRPM5_ENST00000528453.1_Splice_Site_p.G786R	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GTGAAGAAGCCCTGGGAGGGA	0.562																																					NSCLC(1;49 61 17205 18850 43201)	ENST00000452833.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23						c.e16-1		transient receptor potential cation channel, subfamily M, member 5							181	155	164					11																	2433483		2202	4299	6501	SO:0001630	splice_region_variant	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2433483C>G	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"Voltage-gated ion channels / Transient receptor potential cation channels"	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.2356-1G>C	11.37:g.2433483C>G						TRPM5_ENST00000533060.1_Splice_Site_p.G786_splice|TRPM5_ENST00000155858.6_Splice_Site_p.G786_splice|TRPM5_ENST00000528453.1_Splice_Site_p.G786_splice	p.G788_splice			Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	16	2370	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	786						Splice_Site	SNP	ENST00000155858.6	37	c.2361_splice	CCDS31340.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.266868	0.40095	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	4.54	4.54	0.55810	Ion transport (1);	0.246814	0.41605	D	0.000859	T	0.70316	0.3210	M	0.65498	2.005	0.45867	D	0.998728	D;D;D	0.54207	0.957;0.957;0.965	P;P;P	0.60473	0.779;0.779;0.875	T	0.71217	-0.4658	10	0.49607	T	0.09	-33.8685	6.99	0.24750	0.0:0.7975:0.0:0.2025	.	786;788;786	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	R	780;786;788;786;786;786	ENSP00000434383:G780R;ENSP00000155858:G786R;ENSP00000387965:G788R;ENSP00000434121:G786R;ENSP00000436809:G786R	ENSP00000155858:G786R	G	-	1	0	TRPM5	2390059	1.000000	0.71417	1.000000	0.80357	0.408000	0.30992	4.137000	0.58010	2.257000	0.74773	0.591000	0.81541	GGC		0.562	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555	Missense_Mutation	46	101	0	0	0	0.000781405	0	46	101					G	2433483	C	G	2433483	5	3	290	1	0	0	0	0	0	0	1	0	16586	637	22	4	1177	4	TRPM5	11	2433483	Splice_Site	SNP	C	TCGA-EM-A2CJ-01A-11D-A17V-08		2433483	132573033	12	6239											
ERGIC2	51290	broad.mit.edu	37	chr12	29509405	29509405	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggagactgtgatgaatcaTcttctctgttaaaataagat	8	5	3	4			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr12:29509405T>C	ENST00000360150.4	-	8	557	c.482A>G	c.(481-483)gAt>gGt	p.D161G		NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN	ERGIC and golgi 2	161					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)		p.D161A(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)					TGATGAATCATCTTCTCTGTT	0.308																																						ENST00000360150.4																			1	Substitution - Missense(1)	p.D161A(1)	kidney(1)	endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10						c.(481-483)gAt>gGt		ERGIC and golgi 2	Arsenic trioxide(DB01169)						121	117	118					12																	29509405		1814	4086	5900	SO:0001583	missense	51290				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus		g.chr12:29509405T>C	AF216751	CCDS41765.1	12p11.22	2006-02-08							30208	protein-coding gene	gene with protein product		612236				11445006, 12932305	Standard	NM_016570		Approved	PTX1, Erv41	uc001riv.3	Q96RQ1		ENST00000360150.4:c.482A>G	12.37:g.29509405T>C	ENSP00000353270:p.Asp161Gly						p.D161G	NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN			8	557	-	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)		161					A6NHH6|Q53GY2|Q8N2Q9|Q9BVV9|Q9NZA3	Missense_Mutation	SNP	ENST00000360150.4	37	c.482A>G	CCDS41765.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.95|10.95	1.495052|1.495052	0.26774|0.26774	.|.	.|.	ENSG00000087502|ENSG00000087502	ENST00000360150;ENST00000201023;ENST00000546839;ENST00000550353;ENST00000552132|ENST00000551467	.|.	.|.	.|.	4.96|4.96	3.78|3.78	0.43462|0.43462	.|.	0.101889|.	0.64402|.	D|.	0.000003|.	T|T	0.62660|0.62660	0.2446|0.2446	M|M	0.64997|0.64997	1.995|1.995	0.58432|0.58432	D|D	0.999997|0.999997	B|.	0.19445|.	0.036|.	B|.	0.21917|.	0.037|.	T|T	0.59064|0.59064	-0.7524|-0.7524	9|5	0.19147|.	T|.	0.46|.	.|.	9.9219|9.9219	0.41470|0.41470	0.0:0.0:0.1718:0.8281|0.0:0.0:0.1718:0.8281	.|.	161|.	Q96RQ1|.	ERGI2_HUMAN|.	G|V	161;169;161;143;161|18	.|.	ENSP00000201023:D169G|.	D|M	-|-	2|1	0|0	ERGIC2|ERGIC2	29400672|29400672	1.000000|1.000000	0.71417|0.71417	0.916000|0.916000	0.36221|0.36221	0.937000|0.937000	0.57800|0.57800	5.444000|5.444000	0.66587|0.66587	0.710000|0.710000	0.31997|0.31997	0.477000|0.477000	0.44152|0.44152	GAT|ATG		0.308	ERGIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403489.1	NM_016570		4	76	0	0	0	0.00024832	0	4	76					C	29509405	T	C	29509405	3	2	290	1	0	0	0	0	1	0	0	0	5224	1435	50	3	679	3	ERGIC2	12	29509405	Missense_Mutation	SNP	T	TCGA-EM-A2CJ-01A-11D-A17V-08		29509405	104342490	13	6240											
MYO5A	4644	broad.mit.edu	37	chr15	52605985	52605985	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttgaaaggaaaggtgacagGaaagatgtgtttagcatcca	13	4	0	3			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr15:52605985G>A	ENST00000399231.3	-	41	5719	c.5476C>T	c.(5476-5478)Cct>Tct	p.P1826S	MYO5A_ENST00000399233.2_Missense_Mutation_p.P1823S|MYO5A_ENST00000358212.6_Missense_Mutation_p.P1851S|MYO5A_ENST00000553916.1_Missense_Mutation_p.P1824S|MYO5A_ENST00000356338.6_Missense_Mutation_p.P1799S	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1826					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		AAGGTGACAGGAAAGATGTGT	0.473																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(5476-5478)Cct>Tct		myosin VA (heavy chain 12, myoxin)							121	119	120					15																	52605985		1885	4121	6006	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52605985G>A		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"Myosins / Myosin superfamily : Class V"	7602	protein-coding gene	gene with protein product	"myosin, heavy polypeptide kinase", "myosin heavy chain 12", "myoxin", "myosin V"	160777	"myosin VA (heavy polypeptide 12, myoxin)"	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.5476C>T	15.37:g.52605985G>A	ENSP00000382177:p.Pro1826Ser					MYO5A_ENST00000356338.6_Missense_Mutation_p.P1799S|MYO5A_ENST00000399233.2_Missense_Mutation_p.P1823S|MYO5A_ENST00000553916.1_Missense_Mutation_p.P1824S|MYO5A_ENST00000358212.6_Missense_Mutation_p.P1851S	p.P1826S	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	41	5719	-			1826					A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.5476C>T	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.956632	0.73902	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	D;D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24;-2.19	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.90903	0.7141	M	0.84683	2.71	0.80722	D	1	P;P;B	0.47106	0.89;0.881;0.11	B;P;B	0.45071	0.408;0.468;0.029	D	0.91973	0.5588	10	0.72032	D	0.01	.	20.2216	0.98326	0.0:0.0:1.0:0.0	.	556;1826;1799	B5LY56;Q9Y4I1;Q9Y4I1-2	.;MYO5A_HUMAN;.	S	1826;1333;1823;1799;1851;1429;1824	ENSP00000382177:P1826S;ENSP00000382179:P1823S;ENSP00000348693:P1799S;ENSP00000350945:P1851S;ENSP00000451109:P1824S	ENSP00000348693:P1799S	P	-	1	0	MYO5A	50393277	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.724000	0.74747	2.860000	0.98153	0.655000	0.94253	CCT		0.473	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		4	59	0	0	0	0.00024832	0	4	59					A	52605985	G	A	52605985	3	1	290	1	0	0	0	0	1	0	0	0	10078	1174	41	2	95	2	MYO5A	15	52605985	Missense_Mutation	SNP	G	TCGA-EM-A2CJ-01A-11D-A17V-08		52605985	49925407	14	6241											
RPL4	6124	broad.mit.edu	37	chr15	66792426	66792426	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgaagaatggtgttccggcGcatggtctttgcatatgggt	15	7	1	1			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr15:66792426G>A	ENST00000307961.6	-	9	1098	c.1006C>T	c.(1006-1008)Cgc>Tgc	p.R336C	SNAPC5_ENST00000395589.2_5'Flank|SNORD18C_ENST00000362704.1_RNA|SNORD18B_ENST00000365659.1_RNA|SNAPC5_ENST00000563480.2_5'Flank|SNAPC5_ENST00000316634.5_5'Flank|RPL4_ENST00000568588.1_Missense_Mutation_p.R242C|SNAPC5_ENST00000566658.1_5'Flank|SNAPC5_ENST00000307979.7_5'Flank|SNORD16_ENST00000362803.1_RNA	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	336					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						GTGTTCCGGCGCATGGTCTTT	0.448																																						ENST00000307961.6																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(1006-1008)Cgc>Tgc		ribosomal protein L4							90	79	82					15																	66792426		2201	4299	6500	SO:0001583	missense	6124				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr15:66792426G>A	AB007167	CCDS10218.1	15q22	2011-04-06			ENSG00000174444	ENSG00000174444		"L ribosomal proteins"	10353	protein-coding gene	gene with protein product	"60S ribosomal protein L4"	180479				9582194, 8268230	Standard	NM_000968		Approved	L4	uc002apv.3	P36578	OTTHUMG00000133193	ENST00000307961.6:c.1006C>T	15.37:g.66792426G>A	ENSP00000311430:p.Arg336Cys					RPL4_ENST00000568588.1_Missense_Mutation_p.R242C	p.R336C	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN			9	1098	-			336					A8K502|P39029|Q4VBR0|Q969Z9	Missense_Mutation	SNP	ENST00000307961.6	37	c.1006C>T	CCDS10218.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.400612|4.400612	0.83120|0.83120	.|.	.|.	ENSG00000174444|ENSG00000174444	ENST00000449253|ENST00000307961;ENST00000432669	.|.	.|.	.|.	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.70456|0.70456	0.3226|0.3226	M|M	0.80616|0.80616	2.505|2.505	0.80722|0.80722	D|D	1|1	.|P	.|0.48089	.|0.905	.|P	.|0.47786	.|0.557	T|T	0.76372|0.76372	-0.2983|-0.2983	6|9	0.02654|0.87932	T|D	1|0	-4.5244|-4.5244	13.8452|13.8452	0.63463|0.63463	0.0:0.0:0.8473:0.1526|0.0:0.0:0.8473:0.1526	.|.	.|336	.|P36578	.|RL4_HUMAN	V|C	135|336	.|.	ENSP00000403183:A135V|ENSP00000311430:R336C	A|R	-|-	2|1	0|0	RPL4|RPL4	64579480|64579480	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.242000|5.242000	0.65389|0.65389	2.461000|2.461000	0.83175|0.83175	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.448	RPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256903.2	NM_000968		12	70	0	0	0	0.00010058	0	12	70					A	66792426	G	A	66792426	3	1	290	1	0	0	0	0	1	0	0	0	13595	1087	38	1	285	1	RPL4	15	66792426	Missense_Mutation	SNP	G	TCGA-EM-A2CJ-01A-11D-A17V-08	14186441	66792426	35738966	15	6242											
MYH1	4619	broad.mit.edu	37	chr17	10404034	10404034	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcttaatttcactcagttgAtcttctagagcgcggcacat	8	10	5	2			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr17:10404034A>G	ENST00000226207.5	-	28	3868	c.3774T>C	c.(3772-3774)gaT>gaC	p.D1258D	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	1258					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						CACTCAGTTGATCTTCTAGAG	0.468																																						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.(3772-3774)gaT>gaC		myosin, heavy chain 1, skeletal muscle, adult							162	142	148					17																	10404034		2203	4300	6503	SO:0001819	synonymous_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10404034A>G		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.3774T>C	17.37:g.10404034A>G						CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.D1258D	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			28	3868	-			1258					Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	c.3774T>C	CCDS11155.1																																																																																				0.468	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		4	90	0	0	0	0.00024832	0	4	90					G	10404034	A	G	10404034	2	3	290	1	0	0	0	0	0	0	0	1	10029	330	12	3		3	MYH1	17	10404034	Silent	SNP	A	TCGA-EM-A2CJ-01A-11D-A17V-08		10404034	70791176	16	6243											
TCF3	6929	broad.mit.edu	37	chr19	1627410	1627410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaaggaggcataggcgcccCgctcaccgctcttgcctgca	12	16	2	0	rs535762587		TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr19:1627410C>T	ENST00000262965.5	-	6	658	c.314G>A	c.(313-315)cGg>cAg	p.R105Q	TCF3_ENST00000453954.2_Missense_Mutation_p.R21Q|TCF3_ENST00000395423.3_Missense_Mutation_p.R54Q|TCF3_ENST00000588136.1_Missense_Mutation_p.R105Q|TCF3_ENST00000344749.5_Missense_Mutation_p.R105Q	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		ATAGGCGCCCCGCTCACCGCT	0.617			T	"PBX1, HLF, TFPT"	pre B-ALL								C|||	1	0.000199681	0	0	5008	,	,		13811	0.001		0	False		,,,				2504	0					ENST00000262965.5				Dom	yes		19	19p13.3	6929	T	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)			L	"PBX1, HLF, TFPT"		pre B-ALL		0				breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(313-315)cGg>cAg		transcription factor 3							20	24	22					19																	1627410		2187	4297	6484	SO:0001583	missense	6929				B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding	g.chr19:1627410C>T	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"Basic helix-loop-helix proteins"	11633	protein-coding gene	gene with protein product	"transcription factor E2-alpha", "immunoglobulin transcription factor 1", "kappa-E2-binding factor", "E2A immunoglobulin enhancer-binding factor E12/E47", "VDR interacting repressor"	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.314G>A	19.37:g.1627410C>T	ENSP00000262965:p.Arg105Gln					TCF3_ENST00000453954.2_Missense_Mutation_p.R21Q|TCF3_ENST00000395423.3_Missense_Mutation_p.R54Q|TCF3_ENST00000344749.5_Missense_Mutation_p.R105Q|TCF3_ENST00000588136.1_Missense_Mutation_p.R105Q	p.R105Q	NM_003200.3	NP_003191.1	P15923	TFE2_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)	6	658	-		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)	105					Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000262965.5	37	c.314G>A	CCDS12074.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.627406	0.66901	.	.	ENSG00000071564	ENST00000262965;ENST00000344749;ENST00000453954;ENST00000395423	T;T;T	0.69175	-0.38;-0.38;-0.38	3.48	2.41	0.29592	.	0.071564	0.51477	D	0.000090	T	0.78704	0.4325	M	0.78916	2.43	0.36532	D	0.870774	D;D;D	0.89917	1.0;0.999;0.999	P;D;P	0.72625	0.902;0.978;0.836	T	0.82663	-0.0346	10	0.87932	D	0	-8.8555	9.929	0.41510	0.2048:0.7951:0.0:0.0	.	105;105;54	P15923-2;P15923;Q2TB39	.;TFE2_HUMAN;.	Q	105;105;105;54	ENSP00000262965:R105Q;ENSP00000344375:R105Q;ENSP00000378813:R54Q	ENSP00000262965:R105Q	R	-	2	0	TCF3	1578410	0.876000	0.30132	0.788000	0.31933	0.030000	0.12068	2.604000	0.46274	0.777000	0.33496	0.462000	0.41574	CGG		0.617	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		9	11	0	0	0	0.000442599	0	9	11					T	1627410	C	T	1627410	3	4	290	1	0	0	0	0	1	0	0	0	15691	652	23	1	1937	1	TCF3	19	1627410	Missense_Mutation	SNP	C	TCGA-EM-A2CJ-01A-11D-A17V-08		1627410	57501573	17	6244											
MUC16	94025	broad.mit.edu	37	chr19	9049003	9049003	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgaccaaaggggtcactacTcctggtacctcagttgaaac	10	11	2	2			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr19:9049003T>A	ENST00000397910.4	-	5	32831	c.32628A>T	c.(32626-32628)ggA>ggT	p.G10876G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10878	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGTCACTACTCCTGGTACCT	0.478																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(32626-32628)ggA>ggT		mucin 16, cell surface associated							100	90	93					19																	9049003		1931	4130	6061	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9049003T>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.32628A>T	19.37:g.9049003T>A							p.G10876G	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	32831	-			10878			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.32628A>T	CCDS54212.1																																																																																				0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		14	110	0	0	0	0.000151284	0	14	110					A	9049003	T	A	9049003	2	1	290	1	0	0	0	0	0	0	0	1	9973	1538	54	5		5	MUC16	19	9049003	Silent	SNP	T	TCGA-EM-A2CJ-01A-11D-A17V-08	7421593	9049003	50079980	18	6245											
ALG13	79868	broad.mit.edu	37	chrX	110951444	110951444	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttttccctcttgccacgcTttttttcctctccctcttac	2	17	3	0			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chrX:110951444T>C	ENST00000394780.3	+	4	585	c.573T>C	c.(571-573)gcT>gcC	p.A191A	ALG13_ENST00000251943.4_Silent_p.A87A|ALG13-AS1_ENST00000430794.1_RNA	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	191	Deubiquitinase activity.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						CTTGCCACGCTTTTTTTCCTC	0.483																																						ENST00000394780.3																			0				endometrium(2)|lung(10)|skin(1)	13						c.(571-573)gcT>gcC		ALG13, UDP-N-acetylglucosaminyltransferase subunit							133	111	118					X																	110951444		1568	3582	5150	SO:0001819	synonymous_variant	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:110951444T>C	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"Tudor domain containing", "OTU domain containing"	30881	protein-coding gene	gene with protein product	"tudor domain containing 13", "N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"	300776	"glycosyltransferase 28 domain containing 1", "chromosome X open reading frame 45", "asparagine-linked glycosylation 13 homolog (S. cerevisiae)"	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.573T>C	X.37:g.110951444T>C						ALG13-AS1_ENST00000430794.1_RNA|ALG13_ENST00000251943.4_Silent_p.A87A	p.A191A	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN			4	585	+			191					B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Silent	SNP	ENST00000394780.3	37	c.573T>C	CCDS55477.1																																																																																				0.483	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		3	84	0	0	0	0.00024832	0	3	84					C	110951444	T	C	110951444	2	2	290	1	0	0	0	0	0	0	0	1	515	1596	56	3		3	ALG13	23	110951444	Silent	SNP	T	TCGA-EM-A2CJ-01A-11D-A17V-08		110951444	44319116	19	6246											
FHL3	2275	broad.mit.edu	37	chr1	38463709	38463709	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtagtgagcacccttgtcggGcacaaaagaacgggagccca	13	11	0	2			TCGA-EM-A2CK-01A-11D-A17V-08	TCGA-EM-A2CK-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83e36900-8a9a-4356-94d0-ca431a535382	68d9273f-e401-4444-a139-1cb3ae1f89f5	g.chr1:38463709G>C	ENST00000373016.3	-	4	595	c.427C>G	c.(427-429)Ccc>Gcc	p.P143A	FHL3_ENST00000485803.1_5'UTR	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	143	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|muscle organ development (GO:0007517)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)|Z disc (GO:0030018)	zinc ion binding (GO:0008270)	p.P143S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCCTTGTCGGGCACAAAAGAA	0.622																																						ENST00000373016.3																			1	Substitution - Missense(1)	p.P143S(1)	lung(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5						c.(427-429)Ccc>Gcc		four and a half LIM domains 3							92	93	92					1																	38463709		2203	4300	6503	SO:0001583	missense	2275				muscle organ development		zinc ion binding	g.chr1:38463709G>C	BC011697	CCDS30678.1	1p34.3	2008-02-05			ENSG00000183386	ENSG00000183386			3704	protein-coding gene	gene with protein product		602790				8753811, 10226657	Standard	NM_004468		Approved	SLIM2	uc001cck.3	Q13643	OTTHUMG00000004434	ENST00000373016.3:c.427C>G	1.37:g.38463709G>C	ENSP00000362107:p.Pro143Ala					FHL3_ENST00000485803.1_5'UTR	p.P143A	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN			4	595	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	143			LIM zinc-binding 2.		D3DPT6|Q6I9T0|Q9BVA2	Missense_Mutation	SNP	ENST00000373016.3	37	c.427C>G	CCDS30678.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743799	0.89663	.	.	ENSG00000183386	ENST00000373016	D	0.86562	-2.14	5.2	5.2	0.72013	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.91590	0.7343	L	0.45470	1.425	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.91944	0.5565	10	0.56958	D	0.05	.	18.7241	0.91708	0.0:0.0:1.0:0.0	.	143;35;143	Q9P100;Q96C98;Q13643	.;.;FHL3_HUMAN	A	143	ENSP00000362107:P143A	ENSP00000362107:P143A	P	-	1	0	FHL3	38236296	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.869000	0.99810	2.432000	0.82394	0.462000	0.41574	CCC		0.622	FHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012958.1	NM_004468		47	81	0	0	0	0.000781405	0	47	81					C	38463709	G	C	38463709	3	2	291	1	0	0	0	0	1	0	0	0	5880	1203	42	4	427	4	FHL3	1	38463709	Missense_Mutation	SNP	G	TCGA-EM-A2CK-01A-11D-A17V-08		38463709	210786912	1	6247											
GBP5	115362	broad.mit.edu	37	chr1	89733152	89733152	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcacagtattgtacacaaAggtgctgctcagtaagagtg	11	7	2	1			TCGA-EM-A2CK-01A-11D-A17V-08	TCGA-EM-A2CK-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83e36900-8a9a-4356-94d0-ca431a535382	68d9273f-e401-4444-a139-1cb3ae1f89f5	g.chr1:89733152A>C	ENST00000370459.3	-	4	503	c.376T>G	c.(376-378)Ttt>Gtt	p.F126V	GBP5_ENST00000343435.5_Missense_Mutation_p.F126V|RP4-620F22.2_ENST00000437128.1_RNA			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	126	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TTGTACACAAAGGTGCTGCTC	0.448																																						ENST00000343435.5																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24						c.(376-378)Ttt>Gtt		guanylate binding protein 5							137	118	125					1																	89733152		2203	4300	6503	SO:0001583	missense	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89733152A>C	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.376T>G	1.37:g.89733152A>C	ENSP00000359488:p.Phe126Val					GBP5_ENST00000370459.3_Missense_Mutation_p.F126V|RP4-620F22.2_ENST00000437128.1_RNA	p.F126V	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	5	912	-			126					B2RCE1|Q86TM5	Missense_Mutation	SNP	ENST00000370459.3	37	c.376T>G	CCDS722.1	.	.	.	.	.	.	.	.	.	.	A	12.78	2.040690	0.35989	.	.	ENSG00000154451	ENST00000343435;ENST00000370459;ENST00000443807	T;T;T	0.57436	0.4;0.4;0.4	4.9	1.25	0.21368	Guanylate-binding protein, N-terminal (1);	0.209164	0.41500	N	0.000869	T	0.53077	0.1774	M	0.79011	2.435	0.31607	N	0.651971	D	0.76494	0.999	D	0.76575	0.988	T	0.51980	-0.8636	10	0.87932	D	0	-7.3047	4.1724	0.10336	0.5644:0.1707:0.2649:0.0	.	126	Q96PP8	GBP5_HUMAN	V	126	ENSP00000340396:F126V;ENSP00000359488:F126V;ENSP00000403010:F126V	ENSP00000340396:F126V	F	-	1	0	GBP5	89505740	0.960000	0.32886	0.146000	0.22360	0.024000	0.10985	0.540000	0.23191	0.128000	0.18479	-1.339000	0.01253	TTT		0.448	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942		3	45	0	0	0	6.4e-05	0	3	45					C	89733152	A	C	89733152	3	2	291	1	0	0	0	0	1	0	0	0	6277	72	3	5	1416	5	GBP5	1	89733152	Missense_Mutation	SNP	A	TCGA-EM-A2CK-01A-11D-A17V-08	51269443	89733152	159517469	2	6248											
IGSF3	3321	broad.mit.edu	37	chr1	117142736	117142736	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctggactcagccttctcgAtggcagttcgggttcggaag	14	10	2	0	rs138851517	byFrequency	TCGA-EM-A2CK-01A-11D-A17V-08	TCGA-EM-A2CK-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83e36900-8a9a-4356-94d0-ca431a535382	68d9273f-e401-4444-a139-1cb3ae1f89f5	g.chr1:117142736A>G	ENST00000369486.3	-	7	2621	c.1856T>C	c.(1855-1857)aTc>aCc	p.I619T	IGSF3_ENST00000369483.1_Missense_Mutation_p.I639T|IGSF3_ENST00000318837.6_Missense_Mutation_p.I639T	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	619	Ig-like C2-type 5.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGCCTTCTCGATGGCAGTTCG	0.627													A|||	10	0.00199681	0.0023	0.0029	5008	,	,		16651	0.001		0.001	False		,,,				2504	0.0031					ENST00000369486.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62						c.(1855-1857)aTc>aCc		immunoglobulin superfamily, member 3																																				SO:0001583	missense	3321					integral to membrane		g.chr1:117142736A>G	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1856T>C	1.37:g.117142736A>G	ENSP00000358498:p.Ile619Thr					IGSF3_ENST00000318837.6_Missense_Mutation_p.I639T|IGSF3_ENST00000369483.1_Missense_Mutation_p.I639T	p.I619T	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	7	2621	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	619			Ig-like C2-type 5.		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	c.1856T>C	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	A	16.34	3.096884	0.56075	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.15256	2.44;2.44;2.44	4.8	4.8	0.61643	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.132915	0.52532	D	0.000079	T	0.06096	0.0158	N	0.19112	0.55	0.48571	D	0.999675	B;B;B	0.30914	0.162;0.3;0.195	B;B;B	0.33454	0.069;0.164;0.114	T	0.16837	-1.0389	10	0.51188	T	0.08	-37.2914	12.3358	0.55067	1.0:0.0:0.0:0.0	.	639;619;639	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	T	619;639;639	ENSP00000358498:I619T;ENSP00000358495:I639T;ENSP00000321184:I639T	ENSP00000321184:I639T	I	-	2	0	IGSF3	116944259	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.960000	0.76036	2.001000	0.58596	0.374000	0.22700	ATC		0.627	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		3	50	0	0	0	6.4e-05	0	3	50					G	117142736	A	G	117142736	3	3	291	1	0	0	0	0	1	0	0	0	7601	333	12	3	1748	3	IGSF3	1	117142736	Missense_Mutation	SNP	A	TCGA-EM-A2CK-01A-11D-A17V-08	27409584	117142736	132107885	3	6249											
MOG	4340	broad.mit.edu	37	chr6	29639214	29639214	+	3'UTR	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccagtcttccacctggaagCcctctctggctaaggacagg	10	14	2	0			TCGA-EM-A2CK-01A-11D-A17V-08	TCGA-EM-A2CK-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83e36900-8a9a-4356-94d0-ca431a535382	68d9273f-e401-4444-a139-1cb3ae1f89f5	g.chr6:29639214C>G	ENST00000376917.3	+	0	1225				MOG_ENST00000376898.3_Missense_Mutation_p.A249G|MOG_ENST00000376888.2_3'UTR|MOG_ENST00000376894.4_3'UTR|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000431798.2_3'UTR|MOG_ENST00000376891.4_Missense_Mutation_p.A203G|MOG_ENST00000494692.1_Missense_Mutation_p.A226G|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000396701.2_Missense_Mutation_p.A210G	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						CACCTGGAAGCCCTCTCTGGC	0.488																																						ENST00000376898.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						c.(745-747)gCc>gGc		myelin oligodendrocyte glycoprotein							108	115	113					6																	29639214		1511	2709	4220	SO:0001624	3_prime_UTR_variant	4340				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		g.chr6:29639214C>G		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.*252C>G	6.37:g.29639214C>G						MOG_ENST00000376891.4_Missense_Mutation_p.A203G|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000494692.1_Missense_Mutation_p.A226G|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000376917.3_3'UTR|MOG_ENST00000376888.2_3'UTR|MOG_ENST00000431798.2_3'UTR|MOG_ENST00000376894.4_3'UTR|MOG_ENST00000396701.2_Missense_Mutation_p.A210G	p.A249G			Q16653	MOG_HUMAN			8	746	+			0					A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	c.746C>G	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	C	5.617	0.298622	0.10622	.	.	ENSG00000204655	ENST00000376891;ENST00000376898;ENST00000396701;ENST00000494692	T;T;T;T	0.06768	3.38;3.38;3.31;3.26	3.94	-1.04	0.10068	.	.	.	.	.	T	0.01156	0.0038	N	0.08118	0	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.08055	0.001;0.001;0.003;0.001	T	0.47235	-0.9133	9	0.72032	D	0.01	.	4.13	0.10144	0.0:0.418:0.1725:0.4095	.	203;210;226;249	F8W9D5;Q16653-6;Q16653-7;Q16653-5	.;.;.;.	G	203;249;210;226	ENSP00000366088:A203G;ENSP00000366095:A249G;ENSP00000379929:A210G;ENSP00000417405:A226G	ENSP00000366088:A203G	A	+	2	0	MOG	29747193	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.659000	0.05323	-0.231000	0.09825	-1.019000	0.02448	GCC		0.488	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		40	66	0	0	0	0.000319135	0	40	66					G	29639214	C	G	29639214	1	3	291	0	1	0	0	0	0	0	0	0	9693	739	26	4		4	MOG	6	29639214	3'UTR	SNP	C	TCGA-EM-A2CK-01A-11D-A17V-08		29639214	141475853	4	6250											
RNF216	54476	broad.mit.edu	37	chr7	5662650	5662650	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgggaagttgttgaacacAggccgcacgggaggcagggg	19	7	0	1			TCGA-EM-A2CK-01A-11D-A17V-08	TCGA-EM-A2CK-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83e36900-8a9a-4356-94d0-ca431a535382	68d9273f-e401-4444-a139-1cb3ae1f89f5	g.chr7:5662650A>G	ENST00000425013.2	-	17	2666	c.2442T>C	c.(2440-2442)ccT>ccC	p.P814P	RNF216_ENST00000469375.1_5'UTR|RNF216_ENST00000389902.3_Silent_p.P871P	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	814	Pro-rich.				apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TGTTGAACACAGGCCGCACGG	0.647																																						ENST00000425013.2																		FBXL18/RNF216(2)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33						c.(2440-2442)ccT>ccC		ring finger protein 216							84	87	86					7																	5662650		2203	4300	6503	SO:0001819	synonymous_variant	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr7:5662650A>G	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"RING-type (C3HC4) zinc fingers"	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.2442T>C	7.37:g.5662650A>G						RNF216_ENST00000469375.1_5'UTR|RNF216_ENST00000389902.3_Silent_p.P871P	p.P814P	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	17	2666	-		Ovarian(82;0.07)	814			Pro-rich.		Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Silent	SNP	ENST00000425013.2	37	c.2442T>C	CCDS34595.1																																																																																				0.647	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		4	142	0	0	0	0.00024832	0	4	142					G	5662650	A	G	5662650	2	3	291	1	0	0	0	0	0	0	0	1	13480	175	7	3		3	RNF216	7	5662650	Silent	SNP	A	TCGA-EM-A2CK-01A-11D-A17V-08		5662650	153476013	5	6251											
PCM1	5108	broad.mit.edu	37	chr8	17830011	17830011	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacggaagaagacgccagtTtgatgaagaatcactggaaa	11	6	1	5			TCGA-EM-A2CK-01A-11D-A17V-08	TCGA-EM-A2CK-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83e36900-8a9a-4356-94d0-ca431a535382	68d9273f-e401-4444-a139-1cb3ae1f89f5	g.chr8:17830011T>G	ENST00000519253.1	+	23	4009	c.3758T>G	c.(3757-3759)tTt>tGt	p.F1253C	PCM1_ENST00000524226.1_Missense_Mutation_p.F1254C|PCM1_ENST00000327578.8_5'Flank|PCM1_ENST00000325083.8_Missense_Mutation_p.F1253C			Q15154	PCM1_HUMAN	pericentriolar material 1	1253					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AGACGCCAGTTTGATGAAGAA	0.393			T	"RET, JAK2"	"papillary thyroid, CML, MPD"																																	ENST00000325083.8				Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"E, L"	"RET, JAK2"		"papillary thyroid, CML, MPD"	PCM1/JAK2(30)	0				breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48						c.(3757-3759)tTt>tGt		pericentriolar material 1							101	96	97					8																	17830011		1864	4097	5961	SO:0001583	missense	5108				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17830011T>G		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.3758T>G	8.37:g.17830011T>G	ENSP00000431099:p.Phe1253Cys					PCM1_ENST00000524226.1_Missense_Mutation_p.F1254C|PCM1_ENST00000519253.1_Missense_Mutation_p.F1253C	p.F1253C	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	23	4197	+			1253					Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37	c.3758T>G		.	.	.	.	.	.	.	.	.	.	T	14.41	2.528155	0.44969	.	.	ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000524226	T;T;T	0.58210	0.35;0.35;0.35	4.81	3.55	0.40652	.	0.140080	0.64402	D	0.000002	T	0.64000	0.2559	L	0.50333	1.59	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.998;0.999	D;D;P;D	0.72338	0.935;0.977;0.891;0.977	T	0.67284	-0.5709	10	0.87932	D	0	-18.147	11.7603	0.51898	0.0:0.0:0.147:0.853	.	115;1253;1254;1253	B4DJ00;E7ETA6;E7EV56;Q15154	.;.;.;PCM1_HUMAN	C	1253;1253;1254	ENSP00000327077:F1253C;ENSP00000431099:F1253C;ENSP00000430521:F1254C	ENSP00000327077:F1253C	F	+	2	0	PCM1	17874291	1.000000	0.71417	1.000000	0.80357	0.315000	0.28087	3.518000	0.53451	2.104000	0.64026	0.260000	0.18958	TTT		0.393	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		6	94	0	0	0	3.59834e-05	0	6	94					G	17830011	T	G	17830011	3	3	291	1	0	0	0	0	1	0	0	0	11584	1841	64	5	3840	5	PCM1	8	17830011	Missense_Mutation	SNP	T	TCGA-EM-A2CK-01A-11D-A17V-08		17830011	128534011	6	6252											
CYP11B1	1584	broad.mit.edu	37	chr8	143957756	143957756	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccgccacgatgctggtgtaCtgttgagggcggctgaaggc	16	10	0	2	rs191126800		TCGA-EM-A2CK-01A-11D-A17V-08	TCGA-EM-A2CK-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83e36900-8a9a-4356-94d0-ca431a535382	68d9273f-e401-4444-a139-1cb3ae1f89f5	g.chr8:143957756C>G	ENST00000292427.4	-	5	887	c.855G>C	c.(853-855)caG>caC	p.Q285H	CYP11B1_ENST00000377675.3_Missense_Mutation_p.Q356H|CYP11B1_ENST00000517471.1_Missense_Mutation_p.Q285H	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	285					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	TGCTGGTGTACTGTTGAGGGC	0.582									Familial Hyperaldosteronism type I																													ENST00000292427.4																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67						c.(853-855)caG>caC		cytochrome P450, family 11, subfamily B, polypeptide 1	Mitotane(DB00648)						116	97	103					8																	143957756		2203	4300	6503	SO:0001583	missense	0	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143957756C>G	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.855G>C	8.37:g.143957756C>G	ENSP00000292427:p.Gln285His					CYP11B1_ENST00000517471.1_Missense_Mutation_p.Q285H|CYP11B1_ENST00000377675.3_Missense_Mutation_p.Q356H	p.Q285H	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN			5	887	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		285					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	c.855G>C	CCDS6392.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	0.375	-0.931636	0.02359	.	.	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;T	0.68331	-0.32;2.71;-0.32	3.73	-3.33	0.04958	.	1.408720	0.04589	N	0.396335	T	0.33933	0.0880	N	0.01771	-0.73	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.09773	-1.0659	10	0.28530	T	0.3	.	3.2163	0.06700	0.0951:0.3757:0.2981:0.2311	.	356;285;285	Q4VAR0;Q4VAQ9;P15538	.;.;C11B1_HUMAN	H	285;285;356	ENSP00000292427:Q285H;ENSP00000428043:Q285H;ENSP00000366903:Q356H	ENSP00000292427:Q285H	Q	-	3	2	CYP11B1	143954758	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.616000	0.02053	-0.502000	0.06596	-0.153000	0.13522	CAG		0.582	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			4	43	0	0	0	3.59834e-05	0	4	43					G	143957756	C	G	143957756	3	3	291	1	0	0	0	0	1	0	0	0	4145	564	20	4	676	4	CYP11B1	8	143957756	Missense_Mutation	SNP	C	TCGA-EM-A2CK-01A-11D-A17V-08	126127745	143957756	2406266	7	6253											
LRRC8A	56262	broad.mit.edu	37	chr9	131670993	131670993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggatctatagcctgaagaCactggaggagctgcacctga	13	9	1	3			TCGA-EM-A2CK-01A-11D-A17V-08	TCGA-EM-A2CK-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83e36900-8a9a-4356-94d0-ca431a535382	68d9273f-e401-4444-a139-1cb3ae1f89f5	g.chr9:131670993C>T	ENST00000259324.5	+	3	2073	c.1550C>T	c.(1549-1551)aCa>aTa	p.T517I	LRRC8A_ENST00000372600.4_Missense_Mutation_p.T517I|LRRC8A_ENST00000372599.3_Missense_Mutation_p.T517I	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	517					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						AGCCTGAAGACACTGGAGGAG	0.622																																						ENST00000259324.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						c.(1549-1551)aCa>aTa		leucine rich repeat containing 8 family, member A							41	38	39					9																	131670993		2203	4299	6502	SO:0001583	missense	56262				pre-B cell differentiation	integral to membrane		g.chr9:131670993C>T	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"leucine rich repeat containing 8"	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.1550C>T	9.37:g.131670993C>T	ENSP00000259324:p.Thr517Ile					LRRC8A_ENST00000372599.3_Missense_Mutation_p.T517I|LRRC8A_ENST00000372600.4_Missense_Mutation_p.T517I	p.T517I	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN			3	2073	+			517					Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	ENST00000259324.5	37	c.1550C>T	CCDS35155.1	.	.	.	.	.	.	.	.	.	.	C	9.982	1.228519	0.22542	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.25250	1.81;1.81;1.81	5.67	5.67	0.87782	.	0.045666	0.85682	D	0.000000	T	0.21674	0.0522	L	0.35414	1.06	0.47341	D	0.999391	B	0.32128	0.357	B	0.31191	0.125	T	0.03077	-1.1075	10	0.72032	D	0.01	.	13.7042	0.62627	0.1539:0.846:0.0:0.0	.	517	Q8IWT6	LRC8A_HUMAN	I	517	ENSP00000361682:T517I;ENSP00000361680:T517I;ENSP00000259324:T517I	ENSP00000259324:T517I	T	+	2	0	LRRC8A	130710814	1.000000	0.71417	0.971000	0.41717	0.618000	0.37518	5.270000	0.65547	2.677000	0.91161	0.561000	0.74099	ACA		0.622	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594		15	41	0	0	0	0.000308642	0	15	41					T	131670993	C	T	131670993	3	4	291	1	0	0	0	0	1	0	0	0	9021	478	17	2	1552	2	LRRC8A	9	131670993	Missense_Mutation	SNP	C	TCGA-EM-A2CK-01A-11D-A17V-08		131670993	9542438	8	6254											
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	14	13	0	0	rs121913233		TCGA-EM-A2CK-01A-11D-A17V-08	TCGA-EM-A2CK-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83e36900-8a9a-4356-94d0-ca431a535382	68d9273f-e401-4444-a139-1cb3ae1f89f5	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117	102	107					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)				HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR	p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		52	72	0	0	0	0.000781405	0	52	72					C	533874	T	C	533874	3	2	291	1	0	0	0	0	1	0	0	0	7348	1580	55	3	466	3	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-EM-A2CK-01A-11D-A17V-08		533874	134472642	9	6255											
TEX14	56155	broad.mit.edu	37	chr17	56690784	56690784	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggaaacagcagtttactcGttcatgaaggacactgaaca	9	9	1	2	rs141801212	byFrequency	TCGA-EM-A2CK-01A-11D-A17V-08	TCGA-EM-A2CK-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83e36900-8a9a-4356-94d0-ca431a535382	68d9273f-e401-4444-a139-1cb3ae1f89f5	g.chr17:56690784G>A	ENST00000240361.8	-	9	1106	c.1021C>T	c.(1021-1023)Cga>Tga	p.R341*	TEX14_ENST00000349033.5_Nonsense_Mutation_p.R335*|TEX14_ENST00000389934.3_Nonsense_Mutation_p.R335*			Q8IWB6	TEX14_HUMAN	testis expressed 14	341	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGTTTACTCGTTCATGAAGG	0.517																																						ENST00000389934.3																			0				breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81						c.(1003-1005)Cga>Tga		testis expressed 14		G	stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	169	142	151		1021,1003,1003	3.4	1.0	17	dbSNP_134	151	11,8589	8.4+/-32.0	0,11,4289	yes	stop-gained,stop-gained,stop-gained	TEX14	NM_001201457.1,NM_031272.4,NM_198393.3	,,	0,11,6492	AA,AG,GG		0.1279,0.0,0.0846	,,	341/1498,335/1452,335/1492	56690784	11,12995	2203	4300	6503	SO:0001587	stop_gained	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56690784G>A	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"cancer/testis antigen 113"	605792	"testis expressed sequence 14"			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.1021C>T	17.37:g.56690784G>A	ENSP00000240361:p.Arg341*					TEX14_ENST00000349033.5_Nonsense_Mutation_p.R335*|TEX14_ENST00000240361.8_Nonsense_Mutation_p.R341*	p.R335*	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN			9	1120	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		341			Protein kinase.		A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Nonsense_Mutation	SNP	ENST00000240361.8	37	c.1003C>T	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.883996	0.72410	0.0	0.001279	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	.	.	.	5.56	3.37	0.38596	.	0.207947	0.31922	N	0.006848	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2887	11.1548	0.48480	0.0:0.0:0.4641:0.5359	.	.	.	.	X	341;335;335	.	ENSP00000240361:R341X	R	-	1	2	TEX14	54045783	1.000000	0.71417	1.000000	0.80357	0.169000	0.22640	2.179000	0.42528	1.266000	0.44231	0.561000	0.74099	CGA		0.517	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			41	75	0	0	0	0.000228196	0	41	75					A	56690784	G	A	56690784	4	1	291	1	0	0	0	0	0	1	0	0	15775	1153	40	1	3572	1	TEX14	17	56690784	Nonsense_Mutation	SNP	G	TCGA-EM-A2CK-01A-11D-A17V-08		56690784	24504426	10	6256											
CHST8	64377	broad.mit.edu	37	chr19	34262953	34262953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggggccccgaggggccGcaacctgccagcgcctgacc	15	17	0	1			TCGA-EM-A2CK-01A-11D-A17V-08	TCGA-EM-A2CK-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83e36900-8a9a-4356-94d0-ca431a535382	68d9273f-e401-4444-a139-1cb3ae1f89f5	g.chr19:34262953G>A	ENST00000262622.4	+	4	1018	c.260G>A	c.(259-261)cGc>cAc	p.R87H	CHST8_ENST00000434302.1_Missense_Mutation_p.R87H|CHST8_ENST00000438847.3_Missense_Mutation_p.R87H	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	87					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CCGAGGGGCCGCAACCTGCCA	0.667																																						ENST00000262622.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27						c.(259-261)cGc>cAc		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8							17	25	22					19																	34262953		2199	4288	6487	SO:0001583	missense	64377				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr19:34262953G>A	AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"Sulfotransferases, membrane-bound"	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.260G>A	19.37:g.34262953G>A	ENSP00000262622:p.Arg87His					CHST8_ENST00000438847.2_Missense_Mutation_p.R87H|CHST8_ENST00000434302.1_Missense_Mutation_p.R87H	p.R87H	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN			4	1018	+	Esophageal squamous(110;0.162)		87					Q9H3N2	Missense_Mutation	SNP	ENST00000262622.4	37	c.260G>A	CCDS12433.1	.	.	.	.	.	.	.	.	.	.	G	8.132	0.783196	0.16189	.	.	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	T;T;T	0.74947	-0.89;-0.89;-0.89	5.08	-3.33	0.04958	.	3.107070	0.01595	N	0.021742	T	0.48537	0.1505	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32955	-0.9887	10	0.15066	T	0.55	-19.8577	2.5765	0.04807	0.1187:0.259:0.4067:0.2156	.	87	Q9H2A9	CHST8_HUMAN	H	87	ENSP00000392604:R87H;ENSP00000393879:R87H;ENSP00000262622:R87H	ENSP00000262622:R87H	R	+	2	0	CHST8	38954793	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.054000	0.14205	-0.291000	0.09012	-1.442000	0.01069	CGC		0.667	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		14	30	0	0	0	0.000308642	0	14	30					A	34262953	G	A	34262953	3	1	291	1	0	0	0	0	1	0	0	0	3410	1087	38	1	270	1	CHST8	19	34262953	Missense_Mutation	SNP	G	TCGA-EM-A2CK-01A-11D-A17V-08		34262953	24866030	11	6257											
LRFN3	79414	broad.mit.edu	37	chr19	36430922	36430922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcttctgtgcccgccggcGctttttcccgcctgcacaag	11	16	1	0			TCGA-EM-A2CK-01A-11D-A17V-08	TCGA-EM-A2CK-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83e36900-8a9a-4356-94d0-ca431a535382	68d9273f-e401-4444-a139-1cb3ae1f89f5	g.chr19:36430922G>A	ENST00000588831.1	+	3	1649	c.595G>A	c.(595-597)Gct>Act	p.A199T	LRFN3_ENST00000246529.3_Missense_Mutation_p.A199T			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	199					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCCCGCCGGCGCTTTTTCCCG	0.677																																						ENST00000588831.1																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(595-597)Gct>Act		leucine rich repeat and fibronectin type III domain containing 3							66	81	76					19																	36430922		2197	4282	6479	SO:0001583	missense	79414				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane		g.chr19:36430922G>A	BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	28370	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 1"	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.595G>A	19.37:g.36430922G>A	ENSP00000466989:p.Ala199Thr					LRFN3_ENST00000246529.3_Missense_Mutation_p.A199T	p.A199T			Q9BTN0	LRFN3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		3	1649	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		199					Q6UY10	Missense_Mutation	SNP	ENST00000588831.1	37	c.595G>A	CCDS12483.1	.	.	.	.	.	.	.	.	.	.	G	5.779	0.328162	0.10956	.	.	ENSG00000126243	ENST00000246529	T	0.60299	0.2	4.49	4.49	0.54785	.	0.000000	0.33023	N	0.005366	T	0.28067	0.0692	N	0.04063	-0.285	0.33812	D	0.627932	B	0.32040	0.353	B	0.31495	0.131	T	0.40289	-0.9571	10	0.06494	T	0.89	.	8.8485	0.35186	0.1046:0.0:0.8954:0.0	.	199	Q9BTN0	LRFN3_HUMAN	T	199	ENSP00000246529:A199T	ENSP00000246529:A199T	A	+	1	0	LRFN3	41122762	0.018000	0.18449	1.000000	0.80357	0.978000	0.69477	2.318000	0.43779	2.192000	0.70111	0.557000	0.71058	GCT		0.677	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	NM_024509		74	156	0	0	0	0.000781405	0	74	156					A	36430922	G	A	36430922	3	1	291	1	0	0	0	0	1	0	0	0	8939	1087	38	1	597	1	LRFN3	19	36430922	Missense_Mutation	SNP	G	TCGA-EM-A2CK-01A-11D-A17V-08	2167969	36430922	22698061	12	6258											
UBOX5	22888	broad.mit.edu	37	chr20	3090865	3090865	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtcggcacaggaggtggcCgcagggcagctggtacaccg	19	11	0	0			TCGA-EM-A2CK-01A-11D-A17V-08	TCGA-EM-A2CK-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83e36900-8a9a-4356-94d0-ca431a535382	68d9273f-e401-4444-a139-1cb3ae1f89f5	g.chr20:3090865C>T	ENST00000217173.2	-	5	1984	c.1513G>A	c.(1513-1515)Ggc>Agc	p.G505S	UBOX5_ENST00000348031.2_Missense_Mutation_p.G451S|UBOX5-AS1_ENST00000454019.1_RNA|UBOX5-AS1_ENST00000446537.1_RNA	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1			U-box domain containing 5											endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						AGGAGGTGGCCGCAGGGCAGC	0.627																																						ENST00000217173.2																			0				endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						c.(1513-1515)Ggc>Agc		U-box domain containing 5							68	76	73					20																	3090865		2203	4300	6503	SO:0001583	missense	22888					nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr20:3090865C>T	AB020667	CCDS13046.1, CCDS13047.1	20p13	2013-01-28			ENSG00000185019	ENSG00000185019		"RING-type (C3HC4) zinc fingers", "U-box domain containing"	17777	protein-coding gene	gene with protein product						11274149	Standard	NM_014948		Approved	UIP5, KIAA0860, Ubce7ip5, RNF37	uc002whw.4	O94941	OTTHUMG00000031731	ENST00000217173.2:c.1513G>A	20.37:g.3090865C>T	ENSP00000217173:p.Gly505Ser					UBOX5_ENST00000348031.2_Missense_Mutation_p.G451S|UBOX5-AS1_ENST00000446537.1_RNA	p.G505S	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1	O94941	RNF37_HUMAN			5	1984	-			505						Missense_Mutation	SNP	ENST00000217173.2	37	c.1513G>A	CCDS13046.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396056	0.83011	.	.	ENSG00000185019	ENST00000217173;ENST00000348031	T;T	0.66638	-0.22;-0.22	5.04	5.04	0.67666	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);	0.182346	0.47093	U	0.000251	T	0.70211	0.3198	L	0.42245	1.32	0.40461	D	0.98024	D;D	0.63880	0.993;0.993	P;P	0.55087	0.768;0.601	T	0.73764	-0.3880	10	0.62326	D	0.03	-12.2613	14.1105	0.65118	0.0:0.9246:0.0:0.0754	.	451;505	Q86X87;O94941	.;RNF37_HUMAN	S	505;451	ENSP00000217173:G505S;ENSP00000311726:G451S	ENSP00000217173:G505S	G	-	1	0	UBOX5	3038865	0.982000	0.34865	0.998000	0.56505	0.911000	0.54048	2.373000	0.44266	2.497000	0.84241	0.561000	0.74099	GGC		0.627	UBOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077706.2	NM_014948		5	154	0	0	0	0.000602214	0	5	154					T	3090865	C	T	3090865	3	4	291	1	0	0	0	0	1	0	0	0	16891	652	23	1	116	1	UBOX5	20	3090865	Missense_Mutation	SNP	C	TCGA-EM-A2CK-01A-11D-A17V-08		3090865	59934655	13	6259											
LRRIQ3	127255	broad.mit.edu	37	chr1	74492567	74492567	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgctacttttgttttagcaTcttgaagtctttcacaggct	7	8	3	1			TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chr1:74492567T>C	ENST00000395089.1	-	7	1804	c.1805A>G	c.(1804-1806)gAt>gGt	p.D602G	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.D602G			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	602										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TGTTTTAGCATCTTGAAGTCT	0.313																																						ENST00000354431.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(1804-1806)gAt>gGt		leucine-rich repeats and IQ motif containing 3							113	102	105					1																	74492567		1811	4061	5872	SO:0001583	missense	127255							g.chr1:74492567T>C	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"leucine rich repeat containing 44"	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1805A>G	1.37:g.74492567T>C	ENSP00000378524:p.Asp602Gly					LRRIQ3_ENST00000395089.1_Missense_Mutation_p.D602G	p.D602G	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN			8	1996	-			602					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	c.1805A>G	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	T	9.898	1.206137	0.22205	.	.	ENSG00000162620	ENST00000395089;ENST00000354431	T;T	0.10860	2.83;2.83	5.05	5.05	0.67936	.	.	.	.	.	T	0.04227	0.0117	N	0.24115	0.695	0.19775	N	0.999958	P	0.45044	0.849	B	0.42798	0.398	T	0.26360	-1.0105	9	0.66056	D	0.02	.	11.7524	0.51855	0.0:0.0:0.0:1.0	.	602	A6PVS8	LRIQ3_HUMAN	G	602	ENSP00000378524:D602G;ENSP00000346414:D602G	ENSP00000346414:D602G	D	-	2	0	LRRIQ3	74265155	0.325000	0.24660	0.726000	0.30738	0.021000	0.10359	2.217000	0.42880	2.203000	0.70933	0.533000	0.62120	GAT		0.313	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		10	18	0	0	0	0.000442599	0	10	18					C	74492567	T	C	74492567	3	2	292	1	0	0	0	0	1	0	0	0	9030	1435	50	3	73	3	LRRIQ3	1	74492567	Missense_Mutation	SNP	T	TCGA-EM-A2CL-01A-11D-A17V-08		74492567	174758054	1	6260											
AGL	178	broad.mit.edu	37	chr1	100327958	100327958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgatgaatgggaaagcagaCttagggttgcaaaagaatca	12	4	1	4			TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chr1:100327958C>T	ENST00000294724.4	+	4	917	c.439C>T	c.(439-441)Ctt>Ttt	p.L147F	AGL_ENST00000361522.4_Missense_Mutation_p.L130F|AGL_ENST00000370165.3_Missense_Mutation_p.L147F|AGL_ENST00000361302.3_Missense_Mutation_p.L131F|AGL_ENST00000370163.3_Missense_Mutation_p.L147F|AGL_ENST00000370161.2_Missense_Mutation_p.L131F|AGL_ENST00000361915.3_Missense_Mutation_p.L147F	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	147					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GGAAAGCAGACTTAGGGTTGC	0.343																																						ENST00000294724.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(439-441)Ctt>Ttt		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase							198	186	190					1																	100327958		2203	4300	6503	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100327958C>T	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"glycogen debranching enzyme", "glycogen storage disease type III"	610860	"amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.439C>T	1.37:g.100327958C>T	ENSP00000294724:p.Leu147Phe					AGL_ENST00000370161.2_Missense_Mutation_p.L131F|AGL_ENST00000370163.3_Missense_Mutation_p.L147F|AGL_ENST00000361522.4_Missense_Mutation_p.L130F|AGL_ENST00000361915.3_Missense_Mutation_p.L147F|AGL_ENST00000370165.3_Missense_Mutation_p.L147F|AGL_ENST00000361302.3_Missense_Mutation_p.L131F	p.L147F	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	4	917	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	147					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.439C>T	CCDS759.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.763426	0.89932	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	D;D;D;D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73;-2.73;-2.73;-2.73	5.53	4.6	0.57074	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.142674	0.48767	D	0.000177	D	0.91236	0.7238	L	0.60957	1.885	0.80722	D	1	D;D;P	0.58970	0.984;0.984;0.905	D;D;P	0.63113	0.911;0.911;0.816	D	0.89902	0.4045	10	0.30854	T	0.27	.	15.5291	0.75936	0.1394:0.8606:0.0:0.0	.	130;131;147	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	F	147;147;147;147;131;131;130	ENSP00000355106:L147F;ENSP00000359184:L147F;ENSP00000359182:L147F;ENSP00000294724:L147F;ENSP00000354971:L131F;ENSP00000359180:L131F;ENSP00000354635:L130F	ENSP00000294724:L147F	L	+	1	0	AGL	100100546	1.000000	0.71417	0.967000	0.41034	0.986000	0.74619	4.860000	0.62961	1.290000	0.44636	0.655000	0.94253	CTT		0.343	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		64	58	0	0	0	0.000781405	0	64	58					T	100327958	C	T	100327958	3	4	292	1	0	0	0	0	1	0	0	0	384	565	20	2	518	2	AGL	1	100327958	Missense_Mutation	SNP	C	TCGA-EM-A2CL-01A-11D-A17V-08	25835391	100327958	148922663	2	6261											
NBPF15	284565	broad.mit.edu	37	chr1	148594439	148594439	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggaagagcctgaagtcttAcaggactcactggatagatg	13	7	2	3			TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chr1:148594439A>G	ENST00000369187.3	+	19	2301	c.1812A>G	c.(1810-1812)ttA>ttG	p.L604L	NBPF15_ENST00000442702.2_Silent_p.L604L	NM_173638.3	NP_775909.2	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	604	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					CTGAAGTCTTACAGGACTCAC	0.463																																						ENST00000442702.2																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12						c.(1810-1812)ttA>ttG		neuroblastoma breakpoint family, member 15																																				SO:0001819	synonymous_variant	284565					cytoplasm		g.chr1:148594439A>G	BC023087	CCDS72852.1	1q21.1	2014-01-16			ENSG00000243452	ENSG00000266338		"neuroblastoma breakpoint family"	28791	protein-coding gene	gene with protein product		610414, 614005	"neuroblastoma breakpoint family, member 16"	NBPF16		16079250	Standard	NM_173638		Approved	MGC8902	uc001esc.2	Q8N660	OTTHUMG00000013634	ENST00000369187.3:c.1812A>G	1.37:g.148594439A>G						NBPF15_ENST00000369187.3_Silent_p.L604L	p.L604L	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN			21	2879	+	all_hematologic(923;0.032)		604			NBPF 6.		Q3BBV9|Q8IX77	Silent	SNP	ENST00000369187.3	37	c.1812A>G	CCDS932.1																																																																																				0.463	NBPF15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038609.3	NM_173638		5	371	0	0	0	8.12818e-05	0	5	371					G	148594439	A	G	148594439	2	3	292	1	0	0	0	0	0	0	0	1	10195	388	14	3		3	NBPF15	1	148594439	Silent	SNP	A	TCGA-EM-A2CL-01A-11D-A17V-08	48266481	148594439	100656182	3	6262											
OR2L13	284521	broad.mit.edu	37	chr1	248263034	248263034	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctgacctccatggcctaCgaccgttatttggccatctg	8	15	1	1			TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chr1:248263034C>T	ENST00000358120.2	+	2	502	c.357C>T	c.(355-357)taC>taT	p.Y119Y	OR2L13_ENST00000366478.2_Silent_p.Y119Y			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y119Y(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CCATGGCCTACGACCGTTATT	0.512																																						ENST00000366478.2																			2	Substitution - coding silent(2)	p.Y119Y(2)	lung(2)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59						c.(355-357)taC>taT		olfactory receptor, family 2, subfamily L, member 13							221	206	211					1																	248263034		2203	4300	6503	SO:0001819	synonymous_variant	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248263034C>T	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"GPCR / Class A : Olfactory receptors"	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.357C>T	1.37:g.248263034C>T						OR2L13_ENST00000358120.2_Silent_p.Y119Y	p.Y119Y	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	694	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		119					Q5VUR5	Silent	SNP	ENST00000358120.2	37	c.357C>T	CCDS1637.1																																																																																				0.512	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		37	161	0	0	0	0.000814825	0	37	161					T	248263034	C	T	248263034	2	4	292	1	0	0	0	0	0	0	0	1	11006	547	19	1		1	OR2L13	1	248263034	Silent	SNP	C	TCGA-EM-A2CL-01A-11D-A17V-08	99668595	248263034	987587	4	6263											
OR2T29	343563	broad.mit.edu	37	chr1	248722428	248722429	+	Frame_Shift_Ins	INS	-	-	CG													cacgtagcggtcataggccaINStggtggctagaaggaaaaat					rs368626489|rs546109722		TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chr1:248722428_248722429insCG	ENST00000328570.3	-	1	368_369	c.364_365insCG	c.(364-366)atgfs	p.M122fs	RP11-438F14.3_ENST00000438623.1_RNA	NM_001004694.2	NP_001004694.2	Q8NH02	O2T29_HUMAN	olfactory receptor, family 2, subfamily T, member 29	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|lung(4)	5	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTCATAGGCCATGGTGGCTAGA	0.54																																						ENST00000328570.3																			0				NS(1)|lung(4)	5						c.(364-366)ggcfs		olfactory receptor, family 2, subfamily T, member 29				12,348		6,0,174						3.0	1.0			1	52,386		25,2,192	no	frameshift	OR2T29	NM_001004694.2		31,2,366	A1A1,A1R,RR		11.8721,3.3333,8.0201				64,734				SO:0001589	frameshift_variant	343563				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248722428_248722429insCG		CCDS55695.1	1q44	2012-08-09			ENSG00000182783	ENSG00000182783		"GPCR / Class A : Olfactory receptors"	31253	protein-coding gene	gene with protein product							Standard	NM_001004694		Approved		uc001ieo.2	Q8NH02	OTTHUMG00000040382	ENST00000328570.3:c.364_365insCG	1.37:g.248722428_248722429insCG	ENSP00000331774:p.Met122fs					RP11-438F14.3_ENST00000438623.1_RNA	p.G122fs	NM_001004694.2	NP_001004694.2	Q8NH02	O2T29_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	368_369	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		122						Frame_Shift_Ins	INS	ENST00000328570.3	37	c.364_365insCG	CCDS55695.1																																																																																				0.54	OR2T29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097132.1	NM_001004694		2	4						2	4	---	---	---	---	CG	248722429	-	CG	248722428	7	5	292	1	0	1	1	0	0	0	0	0	11022	217	8	0	586	0	OR2T29	1	248722428	Frame_Shift_Ins	INS	-	TCGA-EM-A2CL-01A-11D-A17V-08	459394	248722428	528193	5	6264											
GABRR2	2570	broad.mit.edu	37	chr6	89967652	89967652	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcagactcactgtagcttcCatccagcatcatggtttttg	7	12	3	1			TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chr6:89967652C>G	ENST00000402938.3	-	9	1268	c.1135G>C	c.(1135-1137)Gga>Cga	p.G379R	GABRR2_ENST00000602399.1_Missense_Mutation_p.G404R	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	379					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|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(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	CTGTAGCTTCCATCCAGCATC	0.502																																						ENST00000402938.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21						c.(1135-1137)Gga>Cga		gamma-aminobutyric acid (GABA) A receptor, rho 2							86	78	81					6																	89967652		2203	4300	6503	SO:0001583	missense	2570				synaptic transmission	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.chr6:89967652C>G		CCDS5020.2, CCDS5020.3	6q15	2012-06-22	2012-02-03		ENSG00000111886	ENSG00000111886		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4091	protein-coding gene	gene with protein product	"GABA(A) receptor, rho 2"	137162	"gamma-aminobutyric acid (GABA) receptor, rho 2"			1315307	Standard	NM_002043		Approved		uc003pnb.3	P28476	OTTHUMG00000015198	ENST00000402938.3:c.1135G>C	6.37:g.89967652C>G	ENSP00000386029:p.Gly379Arg					GABRR2_ENST00000602399.1_Missense_Mutation_p.G404R	p.G379R			P28476	GBRR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0158)	9	1268	-		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)	404					A2BDE4|Q9H153	Missense_Mutation	SNP	ENST00000402938.3	37	c.1135G>C	CCDS5020.3	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128150	0.77549	.	.	ENSG00000111886	ENST00000402938	.	.	.	5.92	5.05	0.67936	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.85682	D	0.000000	T	0.68044	0.2958	M	0.73217	2.22	0.80722	D	1	D	0.53151	0.958	P	0.58266	0.836	T	0.70605	-0.4826	8	.	.	.	.	16.453	0.83998	0.1324:0.8676:0.0:0.0	.	404	P28476	GBRR2_HUMAN	R	404	.	.	G	-	1	0	GABRR2	90024371	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.532000	0.60608	1.499000	0.48617	0.650000	0.86243	GGA		0.502	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041482.3			11	23	0	0	0	0.000673444	0	11	23					G	89967652	C	G	89967652	3	3	292	1	0	0	0	0	1	0	0	0	6177	603	21	4	266	4	GABRR2	6	89967652	Missense_Mutation	SNP	C	TCGA-EM-A2CL-01A-11D-A17V-08		89967652	81147415	6	6265											
DCHS1	8642	broad.mit.edu	37	chr11	6662746	6662748	+	In_Frame_Del	DEL	CAG	CAG	-													gcacctggcaccccagccccCagcagcagcagcagcagcag					rs370785084|rs372916982		TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chr11:6662746_6662748delCAG	ENST00000299441.3	-	2	508_510	c.97_99delCTG	c.(97-99)ctgdel	p.L33del		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	33					branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L33_G34insL(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCCAGCCCCcagcagcagcagc	0.635																																						ENST00000299441.3																			1	Insertion - In frame(1)	p.L33_G34insL(1)	prostate(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(97-99)del		dachsous cadherin-related 1				54,415,3471		8,0,38,73,269,1582						5.3	1.0		dbSNP_130	8	588,630,6394		117,13,341,89,439,2807	no	codingComplex	DCHS1	NM_003737.2		125,13,379,162,708,4389	A1A1,A1A2,A1R,A2A2,A2R,RR		16.0011,11.9036,14.6035				642,1045,9865				SO:0001651	inframe_deletion	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6662746_6662748delCAG	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.97_99delCTG	11.37:g.6662755_6662757delCAG	ENSP00000299441:p.Leu33del						p.L33del	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	508_510	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	33					O15098	In_Frame_Del	DEL	ENST00000299441.3	37	c.97_99delCTG	CCDS7771.1																																																																																				0.635	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		3	6						3	6	---	---	---	---	-	6662748	CAG	-	6662746	7	5	292	1	0	1	0	1	0	0	0	0	4287	581	21	0	9877	0	DCHS1	11	6662746	In_Frame_Del	DEL	CAG	TCGA-EM-A2CL-01A-11D-A17V-08		6662746	128343770	7	6266											
SEMA7A	8482	broad.mit.edu	37	chr15	74708936	74708936	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctgcacaactgggccacacGggacacattgagaggagcct	12	13	0	1	rs368853845		TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chr15:74708936G>C	ENST00000261918.4	-	7	1329	c.781C>G	c.(781-783)Cgt>Ggt	p.R261G	SEMA7A_ENST00000543145.2_Missense_Mutation_p.R247G|SEMA7A_ENST00000542748.1_Missense_Mutation_p.R96G	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	261	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						TGGGCCACACGGGACACATTG	0.557																																						ENST00000261918.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						c.(781-783)Cgt>Ggt		semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)							212	175	188					15																	74708936		2197	4296	6493	SO:0001583	missense	8482				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	g.chr15:74708936G>C	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"Semaphorins", "CD molecules", "Blood group antigens", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10741	protein-coding gene	gene with protein product	"John Milton Hagen blood group", "H-Sema K1"	607961	"sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A", "sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.781C>G	15.37:g.74708936G>C	ENSP00000261918:p.Arg261Gly					SEMA7A_ENST00000542748.1_Missense_Mutation_p.R96G|SEMA7A_ENST00000543145.2_Missense_Mutation_p.R247G	p.R261G	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN			7	1329	-			261			Sema.		B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Missense_Mutation	SNP	ENST00000261918.4	37	c.781C>G	CCDS10262.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669525	0.47677	.	.	ENSG00000138623	ENST00000261918;ENST00000543145;ENST00000542748	T;T;T	0.32272	1.46;1.46;1.46	5.39	4.4	0.53042	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.61689	0.2367	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.70128	-0.4957	10	0.87932	D	0	-16.5352	13.8512	0.63499	0.0:0.0:0.8153:0.1847	.	247;261	F5H1S0;O75326	.;SEM7A_HUMAN	G	261;247;96	ENSP00000261918:R261G;ENSP00000438966:R247G;ENSP00000441493:R96G	ENSP00000261918:R261G	R	-	1	0	SEMA7A	72495989	1.000000	0.71417	0.989000	0.46669	0.151000	0.21798	1.140000	0.31516	2.525000	0.85131	0.655000	0.94253	CGT		0.557	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612		3	62	0	0	0	6.4e-05	0	3	62					C	74708936	G	C	74708936	3	2	292	1	0	0	0	0	1	0	0	0	14043	1116	39	4	1251	4	SEMA7A	15	74708936	Missense_Mutation	SNP	G	TCGA-EM-A2CL-01A-11D-A17V-08		74708936	27822456	8	6267											
MPO	4353	broad.mit.edu	37	chr17	56350266	56350266	+	Frame_Shift_Del	DEL	G	G	-													gccatgaggccccggaggatGgggtcaatgccacctgggga							TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chr17:56350266delG	ENST00000225275.3	-	10	1811	c.1635delC	c.(1633-1635)cccfs	p.P545fs	MPO_ENST00000578493.1_5'Flank|MPO_ENST00000340482.3_Frame_Shift_Del_p.P577fs	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	545					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)	CCCGGAGGATGGGGTCAATGC	0.572																																						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.(1729-1731)ccfs		myeloperoxidase	Cefdinir(DB00535)						91	98	95					17																	56350266		2203	4300	6503	SO:0001589	frameshift_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.chr17:56350266delG		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.1635delC	17.37:g.56350266delG	ENSP00000225275:p.Pro545fs					MPO_ENST00000225275.3_Frame_Shift_Del_p.P545fs	p.P577fs			P05164	PERM_HUMAN			9	1907	-			545					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Frame_Shift_Del	DEL	ENST00000225275.3	37	c.1731delC	CCDS11604.1																																																																																				0.572	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			98	122						98	122	---	---	---	---	-	56350266	G	-	56350266	7	5	292	1	0	1	0	1	0	0	0	0	9732	1335	47	0	614	0	MPO	17	56350266	Frame_Shift_Del	DEL	G	TCGA-EM-A2CL-01A-11D-A17V-08		56350266	24844944	9	6268											
LILRB1	10859	broad.mit.edu	37	chr19	55143156	55143157	+	Frame_Shift_Del	DEL	TG	TG	-													ccatccatcacctgggaacaTgcagggcggtatcgctgtta					rs12462774|rs34880987|rs12460501|rs200526666	byFrequency	TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chr19:55143156_55143157delTG	ENST00000396331.1	+	5	633_634	c.276_277delTG	c.(274-279)catgcafs	p.A93fs	LILRB1_ENST00000396317.1_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000427581.2_Frame_Shift_Del_p.A129fs|LILRB1_ENST00000418536.2_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000324602.7_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000434867.2_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000396321.2_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000396315.1_Frame_Shift_Del_p.A93fs|AC009892.1_ENST00000578908.1_RNA|LILRB1_ENST00000448689.1_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000396327.3_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000396332.4_Frame_Shift_Del_p.A93fs	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	93	Ig-like C2-type 1.		A -> T (in dbSNP:rs12460501). {ECO:0000269|PubMed:20600445}.		cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCTGGGAACATGCAGGGCGGTA	0.554										HNSCC(37;0.09)																												ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(274-279)cacafs		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1																																				SO:0001589	frameshift_variant	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55143156_55143157delTG	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.276_277delTG	19.37:g.55143156_55143157delTG	ENSP00000379622:p.Ala93fs	HNSCC(37;0.09)				LILRB1_ENST00000448689.1_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000434867.2_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000427581.2_Frame_Shift_Del_p.HA128fs|LILRB1_ENST00000396332.4_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000396317.1_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000418536.2_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000396321.2_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000396315.1_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000396327.3_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000324602.7_Frame_Shift_Del_p.HA92fs	p.HA92fs	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	5	633_634	+			92			Ig-like C2-type 1.		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Frame_Shift_Del	DEL	ENST00000396331.1	37	c.276_277delTG	CCDS42617.1																																																																																				0.554	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			10	124						10	124	---	---	---	---	-	55143157	TG	-	55143156	7	5	292	1	0	1	0	1	0	0	0	0	8790	1461	51	0	286	0	LILRB1	19	55143156	Frame_Shift_Del	DEL	TG	TCGA-EM-A2CL-01A-11D-A17V-08		55143156	3985827	10	6269											
DIDO1	11083	broad.mit.edu	37	chr20	61512289	61512289	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctctcaccgtcgtgctgcagCgggaagccgggctgcagggc	16	14	1	0			TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chr20:61512289C>G	ENST00000266070.4	-	16	5344	c.5019G>C	c.(5017-5019)ccG>ccC	p.P1673P	DIDO1_ENST00000395343.1_Silent_p.P1673P	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1673					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGTGCTGCAGCGGGAAGCCGG	0.697																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(5017-5019)ccG>ccC		death inducer-obliterator 1							15	19	17					20																	61512289		2193	4268	6461	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512289C>G	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.5019G>C	20.37:g.61512289C>G						DIDO1_ENST00000395343.1_Silent_p.P1673P	p.P1673P	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	5344	-	Breast(26;5.68e-08)		1673					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.5019G>C	CCDS33506.1																																																																																				0.697	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		3	32	0	0	0	6.4e-05	0	3	32					G	61512289	C	G	61512289	2	3	292	1	0	0	0	0	0	0	0	1	4522	755	27	4		4	DIDO1	20	61512289	Silent	SNP	C	TCGA-EM-A2CL-01A-11D-A17V-08		61512289	1513231	11	6270											
EIF1AX	1964	broad.mit.edu	37	chrX	20156732	20156732	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acccctgcgtctgtttttacCtcctttacctgatggtttaa	6	12	1	1			TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chrX:20156732C>G	ENST00000379607.5	-	2	228	c.25G>C	c.(25-27)Ggt>Cgt	p.G9R	snoU2_19_ENST00000364722.1_RNA|EIF1AX_ENST00000379593.1_Intron|snoU2-30_ENST00000365012.1_RNA|EIF1AX-AS1_ENST00000424026.1_RNA	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	9					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						CTGTTTTTACCTCCTTTACCT	0.313																																						ENST00000379607.5																			0				endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.(25-27)Ggt>Cgt		eukaryotic translation initiation factor 1A, X-linked							141	131	134					X																	20156732		2203	4300	6503	SO:0001583	missense	1964					cytosol	translation initiation factor activity	g.chrX:20156732C>G	L18960	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674			3250	protein-coding gene	gene with protein product		300186	"eukaryotic translation initiation factor 1A, X chromosome"	EIF4C, EIF1A		8106356, 9381176	Standard	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.25G>C	X.37:g.20156732C>G	ENSP00000368927:p.Gly9Arg					EIF1AX_ENST00000379593.1_Intron	p.G9R	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN			2	228	-			9					B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Missense_Mutation	SNP	ENST00000379607.5	37	c.25G>C	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478585	0.63849	.	.	ENSG00000173674	ENST00000379607	T	0.47528	0.84	4.94	4.94	0.65067	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.77018	0.4069	M	0.93763	3.455	0.80722	D	1	D	0.67145	0.996	D	0.79784	0.993	D	0.83927	0.0304	9	0.62326	D	0.03	-11.9247	17.661	0.88193	0.0:1.0:0.0:0.0	.	9	P47813	IF1AX_HUMAN	R	9	ENSP00000368927:G9R	ENSP00000368927:G9R	G	-	1	0	EIF1AX	20066653	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	7.237000	0.78164	2.187000	0.69744	0.600000	0.82982	GGT		0.313	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1			62	14	0	0	0	0.000781405	0	62	14					G	20156732	C	G	20156732	3	3	292	1	0	0	0	0	1	0	0	0	4992	681	24	4	433	4	EIF1AX	23	20156732	Missense_Mutation	SNP	C	TCGA-EM-A2CL-01A-11D-A17V-08		20156732	135113828	12	6271											
RNF19B	127544	broad.mit.edu	37	chr1	33415316	33415316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagaactcagtctggcaaCcttccctctcacaagttagc	7	14	3	1			TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr1:33415316C>T	ENST00000373456.7	-	2	694	c.695G>A	c.(694-696)gGt>gAt	p.G232D	RNF19B_ENST00000356990.5_Missense_Mutation_p.G232D|RNF19B_ENST00000235150.4_Missense_Mutation_p.G232D	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	232					interferon-gamma secretion (GO:0072643)|natural killer cell mediated cytotoxicity (GO:0042267)|protein ubiquitination (GO:0016567)	cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AGTCTGGCAACCTTCCCTCTC	0.488																																						ENST00000356990.5																			0				endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13						c.(694-696)gGt>gAt		ring finger protein 19B							133	110	118					1																	33415316		2203	4300	6503	SO:0001583	missense	127544					integral to membrane	ligase activity|protein binding|zinc ion binding	g.chr1:33415316C>T	AK074486	CCDS372.2, CCDS44107.1, CCDS72754.1	1p35.1	2010-05-11	2007-08-20	2007-08-20	ENSG00000116514	ENSG00000116514		"RING-type (C3HC4) zinc fingers"	26886	protein-coding gene	gene with protein product		610872	"IBR domain containing 3"	IBRDC3		12477932	Standard	XM_006710356		Approved	FLJ90005	uc010oho.2	Q6ZMZ0	OTTHUMG00000004013	ENST00000373456.7:c.695G>A	1.37:g.33415316C>T	ENSP00000362555:p.Gly232Asp					RNF19B_ENST00000235150.4_Missense_Mutation_p.G232D|RNF19B_ENST00000373456.7_Missense_Mutation_p.G232D	p.G232D	NM_001127361.1	NP_001120833.1	Q6ZMZ0	RN19B_HUMAN			2	694	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	232					B7ZLB2|E9PAW6|G3XA82|Q0VG77|Q5TH44|Q5TH45|Q6P6A4|Q8N2S8|Q8WUF3	Missense_Mutation	SNP	ENST00000373456.7	37	c.695G>A	CCDS372.2	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611083	0.87258	.	.	ENSG00000116514	ENST00000373456;ENST00000356990;ENST00000235150;ENST00000405457	T;T;T	0.63255	-0.03;-0.03;-0.03	5.13	5.13	0.70059	Zinc finger, C6HC-type (2);	0.000000	0.85682	D	0.000000	T	0.79799	0.4508	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;0.999	T	0.80650	-0.1288	10	0.52906	T	0.07	.	18.954	0.92650	0.0:1.0:0.0:0.0	.	232;232;232	G3XA82;Q6ZMZ0;E9PAW6	.;RN19B_HUMAN;.	D	232;232;232;131	ENSP00000362555:G232D;ENSP00000349482:G232D;ENSP00000235150:G232D	ENSP00000235150:G232D	G	-	2	0	RNF19B	33187903	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.813000	0.86123	2.555000	0.86185	0.467000	0.42956	GGT		0.488	RNF19B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011465.3	NM_153341		39	31	0	0	0	0.00111076	0	39	31					T	33415316	C	T	33415316	3	4	293	1	0	0	0	0	1	0	0	0	13471	507	18	2	1561	2	RNF19B	1	33415316	Missense_Mutation	SNP	C	TCGA-EM-A2CM-01A-11D-A17V-08		33415316	215835305	1	6272											
ECHDC2	55268	broad.mit.edu	37	chr1	53377423	53377423	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaagacattccccaaggcaTtgcgggcagaaggtctgttc	12	11	1	2			TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr1:53377423T>C	ENST00000371522.4	-	2	254	c.161A>G	c.(160-162)aAt>aGt	p.N54S	ECHDC2_ENST00000358358.5_Missense_Mutation_p.N54S|ECHDC2_ENST00000480312.2_5'UTR|ECHDC2_ENST00000536120.1_Missense_Mutation_p.N8S|ECHDC2_ENST00000541281.1_Missense_Mutation_p.N8S	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	54					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	lyase activity (GO:0016829)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						CCCCAAGGCATTGCGGGCAGA	0.592																																						ENST00000536120.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						c.(22-24)aAt>aGt		enoyl CoA hydratase domain containing 2							73	69	70					1																	53377423		2203	4300	6503	SO:0001583	missense	55268				fatty acid metabolic process	mitochondrion	lyase activity	g.chr1:53377423T>C	AF258590	CCDS571.1, CCDS55600.1, CCDS72794.1	1p32.3	2010-04-30	2010-04-30		ENSG00000121310	ENSG00000121310			23408	protein-coding gene	gene with protein product			"enoyl Coenzyme A hydratase domain containing 2"				Standard	NM_018281		Approved	FLJ10948	uc001cup.4	Q86YB7	OTTHUMG00000008927	ENST00000371522.4:c.161A>G	1.37:g.53377423T>C	ENSP00000360577:p.Asn54Ser					ECHDC2_ENST00000358358.5_Missense_Mutation_p.N54S|ECHDC2_ENST00000371522.4_Missense_Mutation_p.N54S|ECHDC2_ENST00000541281.1_Missense_Mutation_p.N8S|ECHDC2_ENST00000480312.2_5'UTR	p.N8S			Q86YB7	ECHD2_HUMAN			5	840	-			54					D3DQ36|Q9NV38	Missense_Mutation	SNP	ENST00000371522.4	37	c.23A>G	CCDS55600.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.428765	0.83667	.	.	ENSG00000121310	ENST00000371522;ENST00000358358;ENST00000536120;ENST00000467988;ENST00000541281	D;D;D;D;D	0.89681	-2.55;-2.04;-2.55;-2.04;-2.55	4.28	4.28	0.50868	Crotonase, core (1);	0.091062	0.85682	D	0.000000	D	0.96697	0.8922	H	0.99435	4.565	0.53005	D	0.999961	D;P;D	0.58970	0.984;0.923;0.98	D;P;P	0.70935	0.971;0.627;0.753	D	0.97190	0.9857	10	0.87932	D	0	.	11.3957	0.49841	0.0:0.0:0.0:1.0	.	8;54;54	B4DSN9;Q86YB7;Q86YB7-2	.;ECHD2_HUMAN;.	S	54;54;8;54;8	ENSP00000360577:N54S;ENSP00000351125:N54S;ENSP00000439264:N8S;ENSP00000441962:N54S;ENSP00000445358:N8S	ENSP00000351125:N54S	N	-	2	0	ECHDC2	53150011	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.048000	0.64238	1.923000	0.55706	0.454000	0.30748	AAT		0.592	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024712.3	NM_018281		39	38	0	0	0	0.00195071	0	39	38					C	53377423	T	C	53377423	3	2	293	1	0	0	0	0	1	0	0	0	4894	1493	52	3	656	3	ECHDC2	1	53377423	Missense_Mutation	SNP	T	TCGA-EM-A2CM-01A-11D-A17V-08	19962107	53377423	195873198	2	6273											
IGFN1	91156	broad.mit.edu	37	chr1	201182494	201182494	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtctcaggcacagtcagggGctgaggttggaggaggaaag	19	6	2	1	rs200607352		TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr1:201182494G>T	ENST00000335211.4	+	12	8603	c.8473G>T	c.(8473-8475)Gct>Tct	p.A2825S	IGFN1_ENST00000295591.8_5'UTR|IGFN1_ENST00000451870.2_Intron	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACAGTCAGGGGCTGAGGTTGG	0.622																																						ENST00000335211.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(8473-8475)Gct>Tct		immunoglobulin-like and fibronectin type III domain containing 1							33	30	31					1																	201182494		2202	4299	6501	SO:0001583	missense	91156							g.chr1:201182494G>T	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.8473G>T	1.37:g.201182494G>T	ENSP00000334714:p.Ala2825Ser					IGFN1_ENST00000451870.2_Intron|IGFN1_ENST00000295591.8_5'UTR	p.A2825S	NM_001164586.1	NP_001158058.1					12	8603	+								F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	c.8473G>T	CCDS53455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.862|7.862	0.726322|0.726322	0.15439|0.15439	.|.	.|.	ENSG00000163395|ENSG00000163395	ENST00000335211|ENST00000412892	T|T	0.50277|0.67865	0.75|-0.29	3.54|3.54	-0.0664|-0.0664	0.13764|0.13764	.|.	.|.	.|.	.|.	.|.	T|T	0.42471|0.42471	0.1204|0.1204	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999998|0.999998	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.36432|0.36432	-0.9748|-0.9748	7|7	0.13470|0.62326	T|D	0.59|0.03	.|.	3.9913|3.9913	0.09538|0.09538	0.1273:0.0:0.4674:0.4053|0.1273:0.0:0.4674:0.4053	.|.	.|.	.|.	.|.	S|V	2825|242	ENSP00000334714:A2825S|ENSP00000387975:G242V	ENSP00000334714:A2825S|ENSP00000387975:G242V	A|G	+|+	1|2	0|0	IGFN1|IGFN1	199449117|199449117	0.001000|0.001000	0.12720|0.12720	0.009000|0.009000	0.14445|0.14445	0.687000|0.687000	0.40016|0.40016	0.075000|0.075000	0.14686|0.14686	-0.004000|-0.004000	0.14419|0.14419	0.491000|0.491000	0.48974|0.48974	GCT|GGC		0.622	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		10	13	1	0	2.17888e-05	0.000442599	0.000145985	10	13					T	201182494	G	T	201182494	3	4	293	1	0	0	0	0	1	0	0	0	7590	1203	42	4	8515	4	IGFN1	1	201182494	Missense_Mutation	SNP	G	TCGA-EM-A2CM-01A-11D-A17V-08	147805071	201182494	48068127	3	6274											
IRS1	3667	broad.mit.edu	37	chr2	227661796	227661796	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggtgggtaggcaggcatcatCtctgtgtactcctcaatgga	13	9	3	0			TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr2:227661796C>A	ENST00000305123.5	-	1	2679	c.1659G>T	c.(1657-1659)gaG>gaT	p.E553D	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	553					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CAGGCATCATCTCTGTGTACT	0.622											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(1657-1659)gaG>gaT		insulin receptor substrate 1							53	55	54					2																	227661796		2203	4300	6503	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227661796C>A		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.1659G>T	2.37:g.227661796C>A	ENSP00000304895:p.Glu553Asp		OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.E553D	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	2679	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	553						Missense_Mutation	SNP	ENST00000305123.5	37	c.1659G>T	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.495346	0.26774	.	.	ENSG00000169047	ENST00000305123	T	0.57907	0.37	5.28	4.41	0.53225	.	0.071473	0.56097	D	0.000035	T	0.48960	0.1529	L	0.29908	0.895	0.33991	D	0.649128	D	0.59357	0.985	P	0.52957	0.714	T	0.54563	-0.8275	10	0.12766	T	0.61	-23.7767	13.9436	0.64071	0.0:0.9264:0.0:0.0736	.	553	P35568	IRS1_HUMAN	D	553	ENSP00000304895:E553D	ENSP00000304895:E553D	E	-	3	2	IRS1	227370040	0.984000	0.35163	1.000000	0.80357	0.975000	0.68041	0.697000	0.25556	1.228000	0.43614	0.561000	0.74099	GAG		0.622	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		49	50	1	0	3.21987e-24	0.000781405	2.4655e-23	49	50					A	227661796	C	A	227661796	3	1	293	1	0	0	0	0	1	0	0	0	7840	912	32	4	2073	4	IRS1	2	227661796	Missense_Mutation	SNP	C	TCGA-EM-A2CM-01A-11D-A17V-08		227661796	15537577	4	6275											
SEC24D	9871	broad.mit.edu	37	chr4	119718931	119718931	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacgtgcatggaaaacagtaTgttgtacaacggatgaatcg	12	6	0	1			TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr4:119718931T>C	ENST00000280551.6	-	8	1186	c.948A>G	c.(946-948)acA>acG	p.T316T	SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000379735.5_Silent_p.T317T			O94855	SC24D_HUMAN	SEC24 family member D	316					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)|in utero embryonic development (GO:0001701)|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)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						GAAAACAGTATGTTGTACAAC	0.388																																						ENST00000379735.5																			0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(949-951)acA>acG		SEC24 family member D							117	100	106					4																	119718931		2203	4300	6503	SO:0001819	synonymous_variant	9871				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr4:119718931T>C	AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"SEC24 (S. cerevisiae) related gene family, member D", "SEC24 family, member D (S. cerevisiae)"			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.948A>G	4.37:g.119718931T>C						SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Silent_p.T316T	p.T317T	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN			8	1222	-			316					Q8IYI7	Silent	SNP	ENST00000280551.6	37	c.951A>G	CCDS3710.1																																																																																				0.388	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4			10	32	0	0	0	0.000442599	0	10	32					C	119718931	T	C	119718931	2	2	293	1	0	0	0	0	0	0	0	1	13997	1451	51	3		3	SEC24D	4	119718931	Silent	SNP	T	TCGA-EM-A2CM-01A-11D-A17V-08		119718931	71435345	5	6276											
OTP	23440	broad.mit.edu	37	chr5	76932745	76932745	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagctcctctccaactcgttGagctgtgcgggggtgaagcg	14	11	1	2			TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr5:76932745G>A	ENST00000306422.3	-	2	1486	c.348C>T	c.(346-348)ctC>ctT	p.L116L	OTP_ENST00000515716.1_5'UTR	NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	116					forebrain neuron differentiation (GO:0021879)|hypothalamus cell differentiation (GO:0021979)|neurohypophysis development (GO:0021985)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		CCAACTCGTTGAGCTGTGCGG	0.667																																						ENST00000306422.3																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13						c.(346-348)ctC>ctT		orthopedia homeobox							111	112	112					5																	76932745		2203	4300	6503	SO:0001819	synonymous_variant	23440					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:76932745G>A		CCDS4039.1	5q14.1	2011-06-20	2007-02-15		ENSG00000171540	ENSG00000171540		"Homeoboxes / PRD class"	8518	protein-coding gene	gene with protein product		604529	"orthopedia homolog (Drosophila)"			10458915	Standard	NM_032109		Approved		uc003kfg.3	Q5XKR4	OTTHUMG00000102171	ENST00000306422.3:c.348C>T	5.37:g.76932745G>A						OTP_ENST00000515716.1_5'UTR	p.L116L	NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)	2	1486	-		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)	116						Silent	SNP	ENST00000306422.3	37	c.348C>T	CCDS4039.1																																																																																				0.667	OTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220016.2			92	97	0	0	0	0.000781405	0	92	97					A	76932745	G	A	76932745	2	1	293	1	0	0	0	0	0	0	0	1	11310	1277	45	2		2	OTP	5	76932745	Silent	SNP	G	TCGA-EM-A2CM-01A-11D-A17V-08		76932745	103982515	6	6277											
CAMK2A	815	broad.mit.edu	37	chr5	149669141	149669141	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actcacttgcccaattcctcGaagagctggtactcttccgt	7	14	2	1			TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr5:149669141G>A	ENST00000348628.6	-	1	713	c.48C>T	c.(46-48)ttC>ttT	p.F16F	CAMK2A_ENST00000398376.3_Silent_p.F16F	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	16	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|kinase activity (GO:0016301)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAATTCCTCGAAGAGCTGGT	0.632																																						ENST00000348628.6																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15						c.(46-48)ttC>ttT		calcium/calmodulin-dependent protein kinase II alpha							88	101	97					5																	149669141		2143	4271	6414	SO:0001819	synonymous_variant	815				interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:149669141G>A	AB023185	CCDS43386.1, CCDS43387.1	5q32	2013-09-20	2008-10-30		ENSG00000070808	ENSG00000070808	2.7.11.17		1460	protein-coding gene	gene with protein product	"CaM-kinase II alpha chain", "calcium/calmodulin-dependent protein kinase II alpha-B subunit", "CaM kinase II alpha subunit", "CaMK-II alpha subunit", "calcium/calmodulin-dependent protein kinase type II alpha chain"	114078	"calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha"	CAMKA		10231032, 3475713	Standard	NM_015981		Approved	KIAA0968, CaMKIINalpha	uc003lrt.2	Q9UQM7	OTTHUMG00000134281	ENST00000348628.6:c.48C>T	5.37:g.149669141G>A						CAMK2A_ENST00000398376.3_Silent_p.F16F	p.F16F	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	713	-		all_hematologic(541;0.224)	16			Protein kinase.		Q9UL21|Q9Y2H4|Q9Y352	Silent	SNP	ENST00000348628.6	37	c.48C>T	CCDS43386.1																																																																																				0.632	CAMK2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258869.2	NM_015981		43	37	0	0	0	0.000781405	0	43	37					A	149669141	G	A	149669141	2	1	293	1	0	0	0	0	0	0	0	1	2599	1049	37	1		1	CAMK2A	5	149669141	Silent	SNP	G	TCGA-EM-A2CM-01A-11D-A17V-08	72736396	149669141	31246119	7	6278											
ZBTB2	57621	broad.mit.edu	37	chr6	151686819	151686819	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgaatgtttaacaacctcaTtgggagtggagaatgttttg	11	4	1	2			TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr6:151686819T>C	ENST00000325144.4	-	3	1522	c.1382A>G	c.(1381-1383)aAt>aGt	p.N461S		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	461					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.N461S(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		AACAACCTCATTGGGAGTGGA	0.473																																						ENST00000325144.4																			1	Substitution - Missense(1)	p.N461S(1)	lung(1)	breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12						c.(1381-1383)aAt>aGt		zinc finger and BTB domain containing 2							178	161	166					6																	151686819		2203	4300	6503	SO:0001583	missense	57621				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:151686819T>C	BC020172	CCDS5231.1	6q25.1	2013-01-09			ENSG00000181472	ENSG00000181472		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	20868	protein-coding gene	gene with protein product						10819331	Standard	NM_020861		Approved	KIAA1483, ZNF437, bA351K16.2	uc003qoh.3	Q8N680	OTTHUMG00000015834	ENST00000325144.4:c.1382A>G	6.37:g.151686819T>C	ENSP00000323183:p.Asn461Ser						p.N461S	NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)	3	1522	-			461					A8K7C7|Q5SZ81|Q9P245	Missense_Mutation	SNP	ENST00000325144.4	37	c.1382A>G	CCDS5231.1	.	.	.	.	.	.	.	.	.	.	T	8.191	0.795948	0.16327	.	.	ENSG00000181472	ENST00000325144	T	0.03831	3.79	5.41	1.7	0.24286	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.177997	0.64402	N	0.000017	T	0.00468	0.0015	N	0.01618	-0.8	0.39545	D	0.968871	P	0.36909	0.573	B	0.33521	0.165	T	0.37174	-0.9717	10	0.02654	T	1	-15.0166	9.0048	0.36104	0.0:0.2123:0.0:0.7877	.	461	Q8N680	ZBTB2_HUMAN	S	461	ENSP00000323183:N461S	ENSP00000323183:N461S	N	-	2	0	ZBTB2	151728512	0.934000	0.31675	0.208000	0.23602	0.905000	0.53344	1.439000	0.35013	0.058000	0.16222	0.460000	0.39030	AAT		0.473	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042715.1	NM_020861		39	44	0	0	0	0.000814825	0	39	44					C	151686819	T	C	151686819	3	2	293	1	0	0	0	0	1	0	0	0	17525	1493	52	3	166	3	ZBTB2	6	151686819	Missense_Mutation	SNP	T	TCGA-EM-A2CM-01A-11D-A17V-08		151686819	19428248	8	6279											
COBL	23242	broad.mit.edu	37	chr7	51096572	51096572	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgccggtggcgtgaggacTcaccaagttccccagctcgt	13	13	1	1			TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr7:51096572T>C	ENST00000265136.7	-	10	2386	c.2221A>G	c.(2221-2223)Agt>Ggt	p.S741G	COBL_ENST00000395542.2_Missense_Mutation_p.S823G	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	741					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GCGTGAGGACTCACCAAGTTC	0.507																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(2467-2469)Agt>Ggt		cordon-bleu WH2 repeat protein							96	81	86					7																	51096572		2203	4300	6503	SO:0001583	missense	23242							g.chr7:51096572T>C	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"cordon-bleu homolog (mouse)"				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.2221A>G	7.37:g.51096572T>C	ENSP00000265136:p.Ser741Gly					COBL_ENST00000265136.7_Missense_Mutation_p.S741G	p.S823G			O75128	COBL_HUMAN			12	2651	-	Glioma(55;0.08)		741					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.2467A>G	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	T	13.76	2.332259	0.41297	.	.	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	T;T;T;T	0.13196	2.62;2.61;2.63;2.63	5.83	4.67	0.58626	.	0.526206	0.17517	N	0.171419	T	0.14184	0.0343	L	0.58101	1.795	0.22050	N	0.999391	B;B;B;P;B	0.38827	0.001;0.001;0.002;0.649;0.037	B;B;B;B;B	0.34452	0.004;0.004;0.002;0.183;0.016	T	0.11966	-1.0566	10	0.46703	T	0.11	.	9.9831	0.41826	0.0:0.1413:0.0:0.8587	.	741;798;741;823;283	O75128-3;O75128-7;O75128;O75128-2;O75128-6	.;.;COBL_HUMAN;.;.	G	741;633;626;823	ENSP00000265136:S741G;ENSP00000401204:S633G;ENSP00000413498:S626G;ENSP00000378912:S823G	ENSP00000265136:S741G	S	-	1	0	COBL	51064066	0.145000	0.22656	0.941000	0.38009	0.580000	0.36256	1.492000	0.35594	1.021000	0.39600	0.533000	0.62120	AGT		0.507	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		43	37	0	0	0	0.0025221	0	43	37					C	51096572	T	C	51096572	3	2	293	1	0	0	0	0	1	0	0	0	3653	1551	54	3	1580	3	COBL	7	51096572	Missense_Mutation	SNP	T	TCGA-EM-A2CM-01A-11D-A17V-08		51096572	108042091	9	6280											
ANK1	286	broad.mit.edu	37	chr8	41546095	41546095	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggggtccttctcctatcttCggctccacttccctgcagaa	8	16	2	1			TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr8:41546095C>T	ENST00000347528.4	-	34	4200	c.4117G>A	c.(4117-4119)Gaa>Aaa	p.E1373K	ANK1_ENST00000396945.1_Missense_Mutation_p.E1373K|ANK1_ENST00000265709.8_Missense_Mutation_p.E1414K|ANK1_ENST00000396942.1_Missense_Mutation_p.E1373K|ANK1_ENST00000352337.4_Missense_Mutation_p.E1373K|ANK1_ENST00000379758.2_Missense_Mutation_p.E1373K|ANK1_ENST00000289734.7_Missense_Mutation_p.E1373K	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1373					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)			CTCCTATCTTCGGCTCCACTT	0.567																																						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.(4117-4119)Gaa>Aaa		ankyrin 1, erythrocytic							121	95	104					8																	41546095		2203	4300	6503	SO:0001583	missense	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.chr8:41546095C>T	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.4117G>A	8.37:g.41546095C>T	ENSP00000339620:p.Glu1373Lys					ANK1_ENST00000265709.8_Missense_Mutation_p.E1414K|ANK1_ENST00000396945.1_Missense_Mutation_p.E1373K|ANK1_ENST00000347528.4_Missense_Mutation_p.E1373K|ANK1_ENST00000352337.4_Missense_Mutation_p.E1373K|ANK1_ENST00000379758.2_Missense_Mutation_p.E1373K|ANK1_ENST00000289734.7_Missense_Mutation_p.E1373K	p.E1373K			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)		34	4200	-	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)	1373					A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.4117G>A	CCDS6119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.78|13.78	2.339417|2.339417	0.41398|0.41398	.|.	.|.	ENSG00000029534|ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820|ENST00000520299	T;T;T;T;T;T;T|.	0.65364|.	-0.14;-0.15;-0.12;-0.1;-0.12;-0.11;-0.14|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.312361|.	0.33938|.	N|.	0.004415|.	T|T	0.59018|0.59018	0.2163|0.2163	L|L	0.36672|0.36672	1.1|1.1	0.46376|0.46376	D|D	0.999015|0.999015	P;D;B;B;P;B|.	0.54047|.	0.797;0.964;0.072;0.009;0.52;0.143|.	B;B;B;B;B;B|.	0.43103|.	0.408;0.407;0.011;0.01;0.291;0.011|.	T|T	0.53989|0.53989	-0.8360|-0.8360	10|5	0.32370|.	T|.	0.25|.	.|.	16.1431|16.1431	0.81539|0.81539	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1414;1373;1373;1373;1373;689|.	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39|.	.;.;ANK1_HUMAN;.;.;.|.	K|Q	1373;1373;1373;1373;1373;1373;1414;1373|694	ENSP00000339620:E1373K;ENSP00000289734:E1373K;ENSP00000369082:E1373K;ENSP00000380149:E1373K;ENSP00000380147:E1373K;ENSP00000309131:E1373K;ENSP00000265709:E1414K|.	ENSP00000265709:E1414K|.	E|R	-|-	1|2	0|0	ANK1|ANK1	41665252|41665252	1.000000|1.000000	0.71417|0.71417	0.079000|0.079000	0.20413|0.20413	0.010000|0.010000	0.07245|0.07245	6.017000|6.017000	0.70805|0.70805	2.579000|2.579000	0.87056|0.87056	0.462000|0.462000	0.41574|0.41574	GAA|CGA		0.567	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		20	18	0	0	0	0.00121646	0	20	18					T	41546095	C	T	41546095	3	4	293	1	0	0	0	0	1	0	0	0	620	893	31	1	1890	1	ANK1	8	41546095	Missense_Mutation	SNP	C	TCGA-EM-A2CM-01A-11D-A17V-08		41546095	104817927	10	6281											
CSMD3	114788	broad.mit.edu	37	chr8	114326991	114326991	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctatagtgccattaagtccTtttaaagttccaccacatgt	5	10	1	0			TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr8:114326991T>C	ENST00000297405.5	-	2	454	c.210A>G	c.(208-210)aaA>aaG	p.K70K	CSMD3_ENST00000352409.3_Silent_p.K70K|CSMD3_ENST00000455883.2_Silent_p.K70K|CSMD3_ENST00000343508.3_Silent_p.K30K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	70	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					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						CATTAAGTCCTTTTAAAGTTC	0.313										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.(208-210)aaA>aaG		CUB and Sushi multiple domains 3							107	109	108					8																	114326991		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:114326991T>C	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.210A>G	8.37:g.114326991T>C		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Silent_p.K70K|CSMD3_ENST00000352409.3_Silent_p.K70K|CSMD3_ENST00000343508.3_Silent_p.K30K	p.K70K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			2	454	-			70			CUB 1.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.210A>G	CCDS6315.1																																																																																				0.313	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		3	147	0	0	0	6.4e-05	0	3	147					C	114326991	T	C	114326991	2	2	293	1	0	0	0	0	0	0	0	1	3946	1606	56	3		3	CSMD3	8	114326991	Silent	SNP	T	TCGA-EM-A2CM-01A-11D-A17V-08	72780896	114326991	32037031	11	6282											
TG	7038	broad.mit.edu	37	chr8	133900509	133900510	+	Frame_Shift_Ins	INS	-	-	T													cttccggaaacttcagtctcINStttattcaaagtctgtatga							TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr8:133900509_133900510insT	ENST00000220616.4	+	10	2497_2498	c.2457_2458insT	c.(2458-2460)tttfs	p.F820fs	TG_ENST00000377869.1_Frame_Shift_Ins_p.F820fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	820	Thyroglobulin type-1 7. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ACTTCAGTCTCTTTATTCAAAG	0.515																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(2455-2460)ctttatfs		thyroglobulin																																				SO:0001589	frameshift_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133900509_133900510insT	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.2460dupT	8.37:g.133900512_133900512dupT	ENSP00000220616:p.Phe820fs					TG_ENST00000377869.1_Frame_Shift_Ins_p.Y820fs	p.Y820fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	10	2497_2498	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	820			Thyroglobulin type-1 7.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Frame_Shift_Ins	INS	ENST00000220616.4	37	c.2457_2458insT	CCDS34944.1																																																																																				0.515	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		34	50						34	50	---	---	---	---	T	133900510	-	T	133900509	7	5	293	1	0	1	1	0	0	0	0	0	15810	900	32	0	2495	0	TG	8	133900509	Frame_Shift_Ins	INS	-	TCGA-EM-A2CM-01A-11D-A17V-08	19573518	133900509	12463513	12	6283											
RORB	6096	broad.mit.edu	37	chr9	77257585	77257585	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtcgattccggtcagccgtCccctgatcagtcaggacttg	11	14	3	1			TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr9:77257585C>T	ENST00000396204.2	+	4	524	c.524C>T	c.(523-525)tCc>tTc	p.S175F	RORB_ENST00000376896.3_Missense_Mutation_p.S164F			Q92753	RORB_HUMAN	RAR-related orphan receptor B	175	Hinge. {ECO:0000255}.				amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	GGTCAGCCGTCCCCTGATCAG	0.493																																						ENST00000376896.2																			0				breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(490-492)tCc>tTc		RAR-related orphan receptor B							87	76	80					9																	77257585		2203	4300	6503	SO:0001583	missense	6096				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:77257585C>T	Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"Nuclear hormone receptors"	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.524C>T	9.37:g.77257585C>T	ENSP00000379507:p.Ser175Phe					RORB_ENST00000396204.2_Missense_Mutation_p.S175F	p.S164F	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN			4	1103	+			175			Hinge (Potential).		Q8WX73	Missense_Mutation	SNP	ENST00000396204.2	37	c.491C>T		.	.	.	.	.	.	.	.	.	.	C	15.38	2.817637	0.50633	.	.	ENSG00000198963	ENST00000376896;ENST00000396204	D;D	0.94576	-3.46;-3.46	5.95	5.04	0.67666	.	0.403240	0.31123	N	0.008208	D	0.94574	0.8252	M	0.82056	2.57	0.80722	D	1	B;B	0.29085	0.232;0.124	B;B	0.31290	0.127;0.052	D	0.93390	0.6751	10	0.59425	D	0.04	.	16.4469	0.83937	0.1323:0.8677:0.0:0.0	.	175;164	Q92753;Q58EY0	RORB_HUMAN;.	F	164;175	ENSP00000366093:S164F;ENSP00000379507:S175F	ENSP00000366093:S164F	S	+	2	0	RORB	76447405	1.000000	0.71417	0.894000	0.35097	0.925000	0.55904	5.594000	0.67557	1.483000	0.48342	0.655000	0.94253	TCC		0.493	RORB-201	KNOWN	basic	protein_coding	protein_coding				28	40	0	0	0	0.000878237	0	28	40					T	77257585	C	T	77257585	3	4	293	1	0	0	0	0	1	0	0	0	13529	855	30	2	505	2	RORB	9	77257585	Missense_Mutation	SNP	C	TCGA-EM-A2CM-01A-11D-A17V-08		77257585	63955846	13	6284											
LARP4B	23185	broad.mit.edu	37	chr10	863763	863763	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtaatggagggaagcTggacagccccagctcgaagc	14	11	0	0			TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr10:863763T>C	ENST00000316157.3	-	14	1637	c.1597A>G	c.(1597-1599)Agc>Ggc	p.S533G	LARP4B_ENST00000469487.1_5'Flank	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	533					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GGAGGGAAGCTGGACAGCCCC	0.532																																						ENST00000316157.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						c.(1597-1599)Agc>Ggc		La ribonucleoprotein domain family, member 4B							139	148	145					10																	863763		2203	4300	6503	SO:0001583	missense	23185						nucleotide binding|RNA binding	g.chr10:863763T>C	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"La ribonucleoprotein domain containing"	28987	protein-coding gene	gene with protein product			"KIAA0217", "La ribonucleoprotein domain family, member 5"	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.1597A>G	10.37:g.863763T>C	ENSP00000326128:p.Ser533Gly						p.S533G	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN			14	1637	-			533					A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	ENST00000316157.3	37	c.1597A>G	CCDS31131.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.6|20.6	4.012730|4.012730	0.75161|0.75161	.|.	.|.	ENSG00000107929|ENSG00000107929	ENST00000448368|ENST00000316157	.|T	.|0.37915	.|1.17	6.11|6.11	6.11|6.11	0.99139|0.99139	.|.	.|0.110813	.|0.85682	.|D	.|0.000000	T|T	0.36166|0.36166	0.0957|0.0957	L|L	0.46157|0.46157	1.445|1.445	0.46849|0.46849	D|D	0.999227|0.999227	.|P	.|0.38767	.|0.646	.|B	.|0.37144	.|0.242	T|T	0.19778|0.19778	-1.0295|-1.0295	5|10	.|0.66056	.|D	.|0.02	-3.4513|-3.4513	16.7021|16.7021	0.85357|0.85357	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|533	.|Q92615	.|LAR4B_HUMAN	R|G	98|533	.|ENSP00000326128:S533G	.|ENSP00000326128:S533G	Q|S	-|-	2|1	0|0	LARP4B|LARP4B	853763|853763	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.749000|0.749000	0.42624|0.42624	7.520000|7.520000	0.81821|0.81821	2.343000|2.343000	0.79666|0.79666	0.533000|0.533000	0.62120|0.62120	CAG|AGC		0.532	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		28	173	0	0	0	0.000720815	0	28	173					C	863763	T	C	863763	3	2	293	1	0	0	0	0	1	0	0	0	8631	1580	55	3	635	3	LARP4B	10	863763	Missense_Mutation	SNP	T	TCGA-EM-A2CM-01A-11D-A17V-08		863763	134670984	14	6285											
ATRNL1	26033	broad.mit.edu	37	chr10	117226764	117226765	+	Splice_Site	INS	-	-	A													ggtctgtcggttcaacaggtINSaaaaaaatgttgatgtcata							TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr10:117226764_117226765insA	ENST00000355044.3	+	23	3622		c.e23+2		ATRNL1_ENST00000423111.2_Splice_Site|ATRNL1_ENST00000303745.7_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1						G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GTTCAACAGGTAAAAAAATGTT	0.287																																						ENST00000355044.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.e23+2		attractin-like 1																																				SO:0001630	splice_region_variant	26033					integral to membrane	sugar binding	g.chr10:117226764_117226765insA	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3496+2->A	10.37:g.117226771_117226771dupA						ATRNL1_ENST00000423111.2_Splice_Site|ATRNL1_ENST00000303745.7_Intron		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	23	3622	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)						O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Splice_Site	INS	ENST00000355044.3	37		CCDS7592.1																																																																																				0.287	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349	Intron	2	4						2	4	---	---	---	---	A	117226765	-	A	117226764	8	5	293	1	0	1	1	0	0	0	1	0	1207	1652	57	0	3588	0	ATRNL1	10	117226764	Splice_Site	INS	-	TCGA-EM-A2CM-01A-11D-A17V-08	116363001	117226764	18307983	15	6286											
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	14	13	0	0	rs121913233		TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117	102	107					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)				HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R	p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		45	51	0	0	0	0.00285205	0	45	51					C	533874	T	C	533874	3	2	293	1	0	0	0	0	1	0	0	0	7348	1580	55	3	466	3	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-EM-A2CM-01A-11D-A17V-08		533874	134472642	16	6287											
TUT1	64852	broad.mit.edu	37	chr11	62344744	62344744	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agagcagagactcaggaaacGggagttatgcagggccagcc	15	9	1	2			TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr11:62344744G>C	ENST00000476907.1	-	6	1871	c.1180C>G	c.(1180-1182)Cgt>Ggt	p.R394G	MIR3654_ENST00000496634.2_Missense_Mutation_p.R394G|EEF1G_ENST00000378019.3_5'Flank|TUT1_ENST00000308436.7_Missense_Mutation_p.R432G			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	394					mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CTCAGGAAACGGGAGTTATGC	0.602																																						ENST00000496634.2																			0				NS(1)	1						c.(1180-1182)Cgt>Ggt									66	65	65					11																	62344744		2202	4298	6500	SO:0001583	missense	0							g.chr11:62344744G>C	BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"RNA binding motif (RRM) containing"	26184	protein-coding gene	gene with protein product	"RNA uridylyltransferase", "U6 TUTase", "TUTase 6"	610641	"RNA binding motif protein 21"	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.1180C>G	11.37:g.62344744G>C	ENSP00000419607:p.Arg394Gly					TUT1_ENST00000476907.1_Missense_Mutation_p.R394G|TUT1_ENST00000308436.7_Missense_Mutation_p.R432G	p.R394G							6	1225	-								A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Missense_Mutation	SNP	ENST00000476907.1	37	c.1180C>G		.	.	.	.	.	.	.	.	.	.	G	17.43	3.387037	0.61956	.	.	ENSG00000149016	ENST00000308436;ENST00000476907	T;T	0.45276	0.9;0.9	5.84	5.84	0.93424	.	0.255271	0.40064	N	0.001197	T	0.49762	0.1576	M	0.77486	2.375	0.30104	N	0.807159	P	0.48640	0.913	P	0.46299	0.511	T	0.61584	-0.7033	10	0.59425	D	0.04	-22.0112	10.9698	0.47432	0.084:0.0:0.916:0.0	.	432	F5H0R1	.	G	432;394	ENSP00000308000:R432G;ENSP00000419607:R394G	ENSP00000441670:R394G	R	-	1	0	TUT1	62101320	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	6.028000	0.70889	2.779000	0.95612	0.655000	0.94253	CGT		0.602	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000351319.2	NM_022830		20	15	0	0	0	0.00121646	0	20	15					C	62344744	G	C	62344744	3	2	293	1	0	0	0	0	1	0	0	0	16777	1116	39	4	1460	4	TUT1	11	62344744	Missense_Mutation	SNP	G	TCGA-EM-A2CM-01A-11D-A17V-08	61810870	62344744	72661772	17	6288											
UBASH3B	84959	broad.mit.edu	37	chr11	122659945	122659945	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatggcacgtccttaaccacCggctgctctggactcctgcc	9	16	1	0			TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr11:122659945C>T	ENST00000284273.5	+	6	1284	c.909C>T	c.(907-909)acC>acT	p.T303T		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	303	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)		CCTTAACCACCGGCTGCTCTG	0.522																																						ENST00000284273.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26						c.(907-909)acC>acT		ubiquitin associated and SH3 domain containing B							159	154	156					11																	122659945		2202	4299	6501	SO:0001819	synonymous_variant	84959					cytoplasm|nucleus	protein tyrosine phosphatase activity	g.chr11:122659945C>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.909C>T	11.37:g.122659945C>T							p.T303T	NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)	6	1284	+		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)	303			SH3.		Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Silent	SNP	ENST00000284273.5	37	c.909C>T	CCDS31694.1																																																																																				0.522	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873		32	188	0	0	0	0.00178596	0	32	188					T	122659945	C	T	122659945	2	4	293	1	0	0	0	0	0	0	0	1	16837	639	23	1		1	UBASH3B	11	122659945	Silent	SNP	C	TCGA-EM-A2CM-01A-11D-A17V-08	60315201	122659945	12346571	18	6289											
IRAK3	11213	broad.mit.edu	37	chr12	66639013	66639013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggccggtgtgctgcaacgCgggcaaagttaagaccatca	13	11	1	1	rs199538395		TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr12:66639013C>T	ENST00000261233.4	+	11	1706	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	IRAK3_ENST00000457197.2_Missense_Mutation_p.R368W	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TGCTGCAACGCGGGCAAAGTT	0.438																																						ENST00000261233.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36						c.(1285-1287)Cgg>Tgg		interleukin-1 receptor-associated kinase 3		C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	77	79	79		1102,1285	1.8	0.1	12		79	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	IRAK3	NM_001142523.1,NM_007199.2	101,101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	368/536,429/597	66639013	2,13004	2203	4300	6503	SO:0001583	missense	0				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66639013C>T	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.1285C>T	12.37:g.66639013C>T	ENSP00000261233:p.Arg429Trp					IRAK3_ENST00000457197.2_Missense_Mutation_p.R368W	p.R429W	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	11	1706	+			429		R -> Q (may be associated with ASRT5).	Protein kinase.			Missense_Mutation	SNP	ENST00000261233.4	37	c.1285C>T	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.756852	0.31137	0.0	2.33E-4	ENSG00000090376	ENST00000261233;ENST00000457197	T;T	0.35236	1.32;1.32	5.89	1.79	0.24919	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.256644	0.30003	N	0.010658	T	0.61850	0.2380	M	0.86953	2.85	0.09310	N	0.999998	D;D	0.89917	1.0;1.0	P;D	0.70935	0.897;0.971	T	0.59690	-0.7407	9	.	.	.	-8.1859	13.5449	0.61697	0.5643:0.4357:0.0:0.0	.	368;429	Q9Y616-2;Q9Y616	.;IRAK3_HUMAN	W	429;368	ENSP00000261233:R429W;ENSP00000409852:R368W	.	R	+	1	2	IRAK3	64925280	0.585000	0.26774	0.076000	0.20297	0.001000	0.01503	0.520000	0.22878	0.044000	0.15775	-0.314000	0.08810	CGG		0.438	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			68	79	0	0	0	0.000781405	0	68	79					T	66639013	C	T	66639013	3	4	293	1	0	0	0	0	1	0	0	0	7824	759	27	1	1327	1	IRAK3	12	66639013	Missense_Mutation	SNP	C	TCGA-EM-A2CM-01A-11D-A17V-08		66639013	67212882	19	6290											
PAN3	255967	broad.mit.edu	37	chr13	28713125	28713125	+	Frame_Shift_Del	DEL	C	C	-													cgggcgggggagctgggccgCcccccgggcccaagaagccg							TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr13:28713125delC	ENST00000380958.3	+	1	483	c.331delC	c.(331-333)cccfs	p.P112fs	PAN3-AS1_ENST00000563843.1_RNA|PAN3_ENST00000399613.1_5'Flank	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		AGCTGGGCCGCCCCCCGGGCC	0.771																																						ENST00000380958.3																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(331-333)ccfs		PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							2	2	2					13																	28713125		1117	2602	3719	SO:0001589	frameshift_variant	255967				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	g.chr13:28713125delC	AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.331delC	13.37:g.28713125delC	ENSP00000370345:p.Pro112fs						p.P112fs	NM_175854.7	NP_787050.6	Q58A45	PAN3_HUMAN	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	1	483	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	112			Interaction with polyadenylate-binding protein.			Frame_Shift_Del	DEL	ENST00000380958.3	37	c.331delC	CCDS9329.2																																																																																				0.771	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854		2	4						2	4	---	---	---	---	-	28713125	C	-	28713125	7	5	293	1	0	1	0	1	0	0	0	0	11415	739	26	0	333	0	PAN3	13	28713125	Frame_Shift_Del	DEL	C	TCGA-EM-A2CM-01A-11D-A17V-08		28713125	86456753	20	6291											
PCDH20	64881	broad.mit.edu	37	chr13	61986868	61986868	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taccttctggatctcttatgGtgaaaaacgcaatgggagtg	11	7	2	1			TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr13:61986868G>T	ENST00000409186.1	-	5	3469	c.1364C>A	c.(1363-1365)aCc>aAc	p.T455N	PCDH20_ENST00000409204.4_Missense_Mutation_p.T455N			Q8N6Y1	PCD20_HUMAN	protocadherin 20	455	Cadherin 3. {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)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		ATCTCTTATGGTGAAAAACGC	0.408																																						ENST00000409186.1																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(1363-1365)aCc>aAc		protocadherin 20							103	103	103					13																	61986868		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61986868G>T	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"Cadherins / Protocadherins : Non-clustered"	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1364C>A	13.37:g.61986868G>T	ENSP00000386653:p.Thr455Asn					PCDH20_ENST00000409204.4_Missense_Mutation_p.T455N	p.T455N			Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	5	3469	-		Breast(118;0.195)|Prostate(109;0.229)	428			Cadherin 3.		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.1364C>A	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928854	0.73327	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.61980	0.06;0.06	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000004	T	0.74906	0.3778	L	0.58302	1.8	0.80722	D	1	D	0.71674	0.998	P	0.60682	0.878	T	0.72616	-0.4239	10	0.42905	T	0.14	.	19.9801	0.97322	0.0:0.0:1.0:0.0	.	455	A8K1K9	.	N	455;455;201	ENSP00000387250:T455N;ENSP00000386653:T455N	ENSP00000351500:T201N	T	-	2	0	PCDH20	60884869	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.751000	0.98889	2.808000	0.96608	0.650000	0.86243	ACC		0.408	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		42	46	1	0	3.61848e-18	0.00170553	2.69376e-17	42	46					T	61986868	G	T	61986868	3	4	293	1	0	0	0	0	1	0	0	0	11515	1261	44	4	1495	4	PCDH20	13	61986868	Missense_Mutation	SNP	G	TCGA-EM-A2CM-01A-11D-A17V-08	33273743	61986868	53183010	21	6292											
NUBP1	4682	broad.mit.edu	37	chr16	10855636	10855636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaatctcagatattccctcCcacaaccgggggcgcggagc	11	14	1	2			TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr16:10855636C>T	ENST00000283027.5	+	9	759	c.740C>T	c.(739-741)cCc>cTc	p.P247L	TVP23A_ENST00000572980.1_Intron|NUBP1_ENST00000571790.1_3'UTR|NUBP1_ENST00000433392.2_Missense_Mutation_p.P236L	NM_002484.2	NP_002475.2			nucleotide binding protein 1											large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						ATATTCCCTCCCACAACCGGG	0.517																																						ENST00000283027.5																			0				large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						c.(739-741)cCc>cTc		nucleotide binding protein 1							46	51	49					16																	10855636		2197	4300	6497	SO:0001583	missense	4682				cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding	g.chr16:10855636C>T	U01833	CCDS10543.1, CCDS61839.1	16p13.13	2014-01-13	2011-05-19		ENSG00000103274	ENSG00000103274			8041	protein-coding gene	gene with protein product		600280	"nucleotide binding protein 1 (E.coli MinD like)", "nucleotide binding protein 1 (MinD homolog, E. coli)"	NBP1		7926816	Standard	NM_002484		Approved	NBP35	uc002daa.1	P53384	OTTHUMG00000129751	ENST00000283027.5:c.740C>T	16.37:g.10855636C>T	ENSP00000283027:p.Pro247Leu					NUBP1_ENST00000571790.1_3'UTR|NUBP1_ENST00000433392.2_Missense_Mutation_p.P236L|TVP23A_ENST00000572980.1_Intron	p.P247L	NM_002484.2	NP_002475.2	P53384	NUBP1_HUMAN			9	759	+			247						Missense_Mutation	SNP	ENST00000283027.5	37	c.740C>T	CCDS10543.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351701	0.82132	.	.	ENSG00000103274	ENST00000283027;ENST00000433392	T;T	0.39406	1.08;1.08	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.71525	0.3350	M	0.90977	3.165	0.80722	D	1	P;D	0.60160	0.611;0.987	P;D	0.65987	0.463;0.94	T	0.78650	-0.2121	10	0.72032	D	0.01	.	18.1999	0.89834	0.0:1.0:0.0:0.0	.	236;247	P53384-2;P53384	.;NUBP1_HUMAN	L	247;236	ENSP00000283027:P247L;ENSP00000409654:P236L	ENSP00000283027:P247L	P	+	2	0	NUBP1	10763137	1.000000	0.71417	0.412000	0.26496	0.623000	0.37688	5.643000	0.67895	2.594000	0.87642	0.655000	0.94253	CCC		0.517	NUBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251964.2	NM_002484		4	75	0	0	0	0.00116845	0	4	75					T	10855636	C	T	10855636	3	4	293	1	0	0	0	0	1	0	0	0	10715	623	22	2	774	2	NUBP1	16	10855636	Missense_Mutation	SNP	C	TCGA-EM-A2CM-01A-11D-A17V-08		10855636	79499117	22	6293											
MTSS1L	92154	broad.mit.edu	37	chr16	70698292	70698292	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatggtggatgacttgtcaAactcgggcgggccctcgctg	16	10	1	1			TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr16:70698292A>C	ENST00000338779.6	-	15	1806	c.1532T>G	c.(1531-1533)tTt>tGt	p.F511C	FLJ00418_ENST00000597002.1_5'UTR	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	511					filopodium assembly (GO:0046847)|signal transduction (GO:0007165)					breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						TGACTTGTCAAACTCGGGCGG	0.667																																						ENST00000338779.6																			0				breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						c.(1531-1533)tTt>tGt		metastasis suppressor 1-like							36	32	33					16																	70698292		2197	4299	6496	SO:0001583	missense	92154				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding	g.chr16:70698292A>C		CCDS32476.1	16q22.1	2008-12-16				ENSG00000132613			25094	protein-coding gene	gene with protein product	"actin-bundling protein with BAIAP2 homology"					12477932	Standard	XM_006721335		Approved	ABBA-1, LOC92154	uc002ezj.3	Q765P7		ENST00000338779.6:c.1532T>G	16.37:g.70698292A>C	ENSP00000341171:p.Phe511Cys					FLJ00418_ENST00000597002.1_5'UTR	p.F511C	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN			15	1806	-			511					A6NJI7|Q9BUA8	Missense_Mutation	SNP	ENST00000338779.6	37	c.1532T>G	CCDS32476.1	.	.	.	.	.	.	.	.	.	.	A	19.03	3.748581	0.69533	.	.	ENSG00000132613	ENST00000338779	T	0.43688	0.94	4.4	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.62768	0.2455	M	0.77103	2.36	0.48511	D	0.99966	D	0.76494	0.999	D	0.69824	0.966	T	0.64918	-0.6294	10	0.41790	T	0.15	-25.4626	13.315	0.60401	1.0:0.0:0.0:0.0	.	511	Q765P7	MTSSL_HUMAN	C	511	ENSP00000341171:F511C	ENSP00000341171:F511C	F	-	2	0	MTSS1L	69255793	1.000000	0.71417	0.998000	0.56505	0.686000	0.39977	9.239000	0.95389	1.615000	0.50252	0.379000	0.24179	TTT		0.667	MTSS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434927.3	NM_138383		27	15	0	0	0	0.000720815	0	27	15					C	70698292	A	C	70698292	3	2	293	1	0	0	0	0	1	0	0	0	9963	14	1	5	715	5	MTSS1L	16	70698292	Missense_Mutation	SNP	A	TCGA-EM-A2CM-01A-11D-A17V-08	59842656	70698292	19656461	23	6294											
AKAP10	11216	broad.mit.edu	37	chr17	19835124	19835124	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caatcagtcaatacctgagaCgcagagctgtcagaactccc	8	13	3	3			TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr17:19835124C>A	ENST00000225737.6	-	10	1792	c.1635G>T	c.(1633-1635)gcG>gcT	p.A545A	RP11-209D14.4_ENST00000583067.1_RNA|AKAP10_ENST00000395536.3_Intron	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	545					blood coagulation (GO:0007596)|protein localization (GO:0008104)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					ATACCTGAGACGCAGAGCTGT	0.483																																						ENST00000225737.6																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21						c.(1633-1635)gcG>gcT		A kinase (PRKA) anchor protein 10							68	64	65					17																	19835124		2203	4300	6503	SO:0001819	synonymous_variant	11216				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity	g.chr17:19835124C>A	AF037439	CCDS11214.1	17p11.1	2008-07-18			ENSG00000108599	ENSG00000108599		"A-kinase anchor proteins"	368	protein-coding gene	gene with protein product	"dual-specificity A-kinase anchoring protein 2", "protein kinase A anchoring protein 10", "mitochondrial A kinase PPKA anchor protein 10"	604694				9326583	Standard	NM_007202		Approved	D-AKAP2, PRKA10, MGC9414	uc002gwo.4	O43572	OTTHUMG00000059515	ENST00000225737.6:c.1635G>T	17.37:g.19835124C>A						AKAP10_ENST00000395536.3_Intron	p.A545A	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN			10	1792	-	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)		545					B2R650|Q96AJ7	Silent	SNP	ENST00000225737.6	37	c.1635G>T	CCDS11214.1																																																																																				0.483	AKAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132380.2	NM_007202		18	39	1	0	3.52763e-06	0.000566183	2.42412e-05	18	39					A	19835124	C	A	19835124	2	1	293	1	0	0	0	0	0	0	0	1	446	523	19	4		4	AKAP10	17	19835124	Silent	SNP	C	TCGA-EM-A2CM-01A-11D-A17V-08		19835124	61360086	24	6295											
BLMH	642	broad.mit.edu	37	chr17	28599594	28599594	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctcacagattcatgtcactgAggcccagcttgctattgaag	9	11	3	3			TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr17:28599594A>T	ENST00000261714.6	-	9	1187	c.1013T>A	c.(1012-1014)cTc>cAc	p.L338H	BLMH_ENST00000582669.1_5'Flank|BLMH_ENST00000394819.3_Missense_Mutation_p.L251H	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	338					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|carboxypeptidase activity (GO:0004180)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13					Bleomycin(DB00290)	CATGTCACTGAGGCCCAGCTT	0.438																																					Pancreas(127;628 1772 12912 33293 36203)	ENST00000261714.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13						c.(1012-1014)cTc>cAc		bleomycin hydrolase							229	228	228					17																	28599594		2203	4300	6503	SO:0001583	missense	642				proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding	g.chr17:28599594A>T	X92106	CCDS32604.1	17q11.2	2004-02-16				ENSG00000108578			1059	protein-coding gene	gene with protein product		602403				9407121, 9331073	Standard	NM_000386		Approved	BH	uc002hez.2	Q13867		ENST00000261714.6:c.1013T>A	17.37:g.28599594A>T	ENSP00000261714:p.Leu338His					BLMH_ENST00000394819.3_Missense_Mutation_p.L251H	p.L338H	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN			9	1187	-			338					B2R796|Q53F86|Q9UER9	Missense_Mutation	SNP	ENST00000261714.6	37	c.1013T>A	CCDS32604.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.421606	0.83559	.	.	ENSG00000108578	ENST00000261714;ENST00000394819	T;T	0.46451	0.87;0.87	5.91	5.91	0.95273	.	0.047599	0.85682	D	0.000000	T	0.63616	0.2526	M	0.69823	2.125	0.50171	D	0.999859	D;D	0.69078	0.997;0.995	D;D	0.69307	0.945;0.963	T	0.67166	-0.5739	10	0.87932	D	0	-15.7191	15.5295	0.75942	1.0:0.0:0.0:0.0	.	251;338	E7EMN3;Q13867	.;BLMH_HUMAN	H	338;251	ENSP00000261714:L338H;ENSP00000378296:L251H	ENSP00000261714:L338H	L	-	2	0	BLMH	25623720	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.254000	0.74563	0.533000	0.62120	CTC		0.438	BLMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447940.1	NM_000386		129	155	0	0	0	0.000781405	0	129	155					T	28599594	A	T	28599594	3	4	293	1	0	0	0	0	1	0	0	0	1446	304	11	5	370	5	BLMH	17	28599594	Missense_Mutation	SNP	A	TCGA-EM-A2CM-01A-11D-A17V-08	8764470	28599594	52595616	25	6296											
RAB3D	9545	broad.mit.edu	37	chr19	11446144	11446144	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtcgtcggcgagcctccGgccatcctcagcaggcacaa	12	15	1	0	rs72992916	byFrequency	TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr19:11446144G>A	ENST00000222120.3	-	4	711	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	RAB3D_ENST00000589655.1_Missense_Mutation_p.R151W	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	151					exocytosis (GO:0006887)|GTP catabolic process (GO:0006184)|peptidyl-cysteine methylation (GO:0018125)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)|zymogen granule (GO:0042588)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						GCGAGCCTCCGGCCATCCTCA	0.607													G|||	5	0.000998403	0	0	5008	,	,		20252	0		0.003	False		,,,				2504	0.002					ENST00000222120.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						c.(451-453)Cgg>Tgg		RAB3D, member RAS oncogene family		G	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	75	61	66		451	3.5	1.0	19	dbSNP_130	66	21,8579	15.3+/-51.7	0,21,4279	yes	missense	RAB3D	NM_004283.3	101	0,23,6480	AA,AG,GG		0.2442,0.0454,0.1768	probably-damaging	151/220	11446144	23,12983	2203	4300	6503	SO:0001583	missense	9545				exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr19:11446144G>A	AF081353	CCDS12257.1	19p13.2	2012-10-02			ENSG00000105514	ENSG00000105514		"RAB, member RAS oncogene"	9779	protein-coding gene	gene with protein product	"Rab3D upregulated with myeloid differentiation", "glioblastoma overexpressed"	604350		GOV		10023084, 10072586	Standard	NM_004283		Approved	RAB16, D2-2, RAD3D	uc002mqx.3	O95716	OTTHUMG00000180835	ENST00000222120.3:c.451C>T	19.37:g.11446144G>A	ENSP00000222120:p.Arg151Trp					RAB3D_ENST00000589655.1_Missense_Mutation_p.R151W	p.R151W	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN			4	711	-			151						Missense_Mutation	SNP	ENST00000222120.3	37	c.451C>T	CCDS12257.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.22	2.768732	0.49680	4.54E-4	0.002442	ENSG00000105514	ENST00000222120	T	0.78003	-1.14	4.62	3.5	0.40072	Small GTP-binding protein domain (1);	0.591766	0.17639	N	0.167102	T	0.74114	0.3674	M	0.64170	1.965	0.53005	D	0.999969	B	0.18166	0.026	B	0.17098	0.017	T	0.75456	-0.3311	10	0.87932	D	0	.	12.0588	0.53550	0.0:0.0:0.7748:0.2252	.	151	O95716	RAB3D_HUMAN	W	151	ENSP00000222120:R151W	ENSP00000222120:R151W	R	-	1	2	RAB3D	11307144	0.600000	0.26899	0.993000	0.49108	0.720000	0.41350	1.630000	0.37081	2.575000	0.86900	0.448000	0.29417	CGG		0.607	RAB3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453211.1	NM_004283		9	32	0	0	0	0.000274275	0	9	32					A	11446144	G	A	11446144	3	1	293	1	0	0	0	0	1	0	0	0	12934	1115	39	1	216	1	RAB3D	19	11446144	Missense_Mutation	SNP	G	TCGA-EM-A2CM-01A-11D-A17V-08		11446144	47682839	26	6297											
ZNF490	57474	broad.mit.edu	37	chr19	12692413	12692413	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaagacttccccacacacaCtgcagtcacatggttttaat	6	12	1	2			TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr19:12692413C>A	ENST00000311437.6	-	5	598	c.476G>T	c.(475-477)aGt>aTt	p.S159I	ZNF490_ENST00000465656.1_5'Flank|CTD-2192J16.20_ENST00000593682.1_5'Flank	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	159					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						CCCACACACACTGCAGTCACA	0.423																																						ENST00000311437.6																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(475-477)aGt>aTt		zinc finger protein 490							190	166	174					19																	12692413		2203	4300	6503	SO:0001583	missense	57474				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12692413C>A	AB033024	CCDS12272.1	19p13.2	2013-01-08			ENSG00000188033	ENSG00000188033		"Zinc fingers, C2H2-type", "-"	23705	protein-coding gene	gene with protein product							Standard	NM_020714		Approved	KIAA1198	uc002mtz.2	Q9ULM2	OTTHUMG00000156398	ENST00000311437.6:c.476G>T	19.37:g.12692413C>A	ENSP00000311521:p.Ser159Ile						p.S159I	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN			5	598	-			159						Missense_Mutation	SNP	ENST00000311437.6	37	c.476G>T	CCDS12272.1	.	.	.	.	.	.	.	.	.	.	C	5.986	0.365942	0.11352	.	.	ENSG00000188033	ENST00000311437;ENST00000440366	T;T	0.16457	2.34;4.6	0.996	-0.214	0.13161	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14013	0.0339	L	0.55990	1.75	0.09310	N	1	B	0.15473	0.013	B	0.12156	0.007	T	0.30534	-0.9975	9	0.37606	T	0.19	.	3.8987	0.09150	0.0:0.3023:0.5067:0.191	.	159	Q9ULM2	ZN490_HUMAN	I	159;106	ENSP00000311521:S159I;ENSP00000404112:S106I	ENSP00000311521:S159I	S	-	2	0	ZNF490	12553413	0.000000	0.05858	0.004000	0.12327	0.027000	0.11550	-3.031000	0.00637	-0.025000	0.13918	0.491000	0.48974	AGT		0.423	ZNF490-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344073.1	NM_020714		60	86	1	0	4.10029e-35	0.000781405	3.23199e-34	60	86					A	12692413	C	A	12692413	3	1	293	1	0	0	0	0	1	0	0	0	17938	565	20	4	1117	4	ZNF490	19	12692413	Missense_Mutation	SNP	C	TCGA-EM-A2CM-01A-11D-A17V-08	1246269	12692413	46436570	27	6298											
ZNF227	7770	broad.mit.edu	37	chr19	44739570	44739570	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttatagatgcgacagttgCggcaagggattcagtagcag	13	7	2	1	rs372984825		TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr19:44739570C>T	ENST00000313040.7	+	6	1192	c.987C>T	c.(985-987)tgC>tgT	p.C329C	ZNF227_ENST00000589005.1_Silent_p.C278C|ZNF227_ENST00000391961.2_Silent_p.C278C	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	329					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				GCGACAGTTGCGGCAAGGGAT	0.393																																						ENST00000313040.7																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24						c.(985-987)tgC>tgT		zinc finger protein 227							69	70	70					19																	44739570		2203	4300	6503	SO:0001819	synonymous_variant	7770				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44739570C>T	AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"Zinc fingers, C2H2-type", "-"	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.987C>T	19.37:g.44739570C>T						ZNF227_ENST00000391961.2_Silent_p.C278C|ZNF227_ENST00000589005.1_Silent_p.C278C	p.C329C	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN			6	1192	+		Prostate(69;0.0435)	329					B3KRU7|B7Z5P9	Silent	SNP	ENST00000313040.7	37	c.987C>T	CCDS12636.1																																																																																				0.393	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	NM_182490		25	43	0	0	0	0.00047179	0	25	43					T	44739570	C	T	44739570	2	4	293	1	0	0	0	0	0	0	0	1	17778	776	27	1		1	ZNF227	19	44739570	Silent	SNP	C	TCGA-EM-A2CM-01A-11D-A17V-08	32047157	44739570	14389413	28	6299											
SIGLEC12	89858	broad.mit.edu	37	chr19	52004780	52004780	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cactggaatgttccggcttaCatggtcccctgcccggaacc	10	15	0	0	rs541963042		TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr19:52004780C>G	ENST00000291707.3	-	1	263	c.208G>C	c.(208-210)Gta>Cta	p.V70L	SIGLEC12_ENST00000598614.1_5'Flank	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	70	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TTCCGGCTTACATGGTCCCCT	0.587																																						ENST00000291707.3																			0				NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61						c.(208-210)Gta>Cta		sialic acid binding Ig-like lectin 12 (gene/pseudogene)							103	86	92					19																	52004780		2203	4300	6503	SO:0001583	missense	89858				cell adhesion	integral to membrane	sugar binding	g.chr19:52004780C>G	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15482	protein-coding gene	gene with protein product		606094	"SIGLEC-like 1", "sialic acid binding Ig-like lectin 12"	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.208G>C	19.37:g.52004780C>G	ENSP00000291707:p.Val70Leu						p.V70L	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	1	263	-		all_neural(266;0.0199)	70			Ig-like V-type 1.		Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	37	c.208G>C	CCDS12833.1	.	.	.	.	.	.	.	.	.	.	.	0.131	-1.113477	0.01799	.	.	ENSG00000254521	ENST00000291707	T	0.21543	2.0	2.28	-1.71	0.08133	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.13200	0.0320	L	0.33189	0.99	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.26360	-1.0105	9	0.34782	T	0.22	.	5.7659	0.18227	0.0:0.4557:0.0:0.5443	.	70	Q96PQ1	SIG12_HUMAN	L	70	ENSP00000291707:V70L	ENSP00000291707:V70L	V	-	1	0	SIGLEC12	56696592	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.044000	0.00631	-0.977000	0.03537	-1.151000	0.01829	GTA		0.587	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		55	61	0	0	0	0.000781405	0	55	61					G	52004780	C	G	52004780	3	3	293	1	0	0	0	0	1	0	0	0	14308	478	17	4	1684	4	SIGLEC12	19	52004780	Missense_Mutation	SNP	C	TCGA-EM-A2CM-01A-11D-A17V-08	7265210	52004780	7124203	29	6300											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290	byFrequency	TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		neuroblastoma RAS viral (v-ras) oncogene homolog							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		116	172	0	0	0	0.01441	0	116	172					C	115256529	T	C	115256529	3	2	294	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-EM-A2CN-01A-11D-A19J-08		115256529	133994092	1	6301											
HIST2H3D	653604	broad.mit.edu	37	chr1	149785212	149785212	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgccgccggtcgacttgcGggcagtctgcttagtacggg	15	12	1	0	rs375383583		TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr1:149785212G>A	ENST00000331491.1	-	1	24	c.25C>T	c.(25-27)Cgc>Tgc	p.R9C	HIST2H2BF_ENST00000427880.2_5'Flank|HIST2H2BF_ENST00000469483.1_5'Flank|HIST2H2BF_ENST00000545683.1_5'Flank|HIST2H2BF_ENST00000369167.1_5'Flank|RP11-196G18.21_ENST00000420462.1_RNA	NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	9					blood coagulation (GO:0007596)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						GTCGACTTGCGGGCAGTCTGC	0.602																																						ENST00000331491.1																			0				biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						c.(25-27)Cgc>Tgc		histone cluster 2, H3d							28	29	28					1																	149785212		1557	3551	5108	SO:0001583	missense	653604				blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr1:149785212G>A	AL591493	CCDS41388.1	1q21.2	2012-03-08	2006-10-11		ENSG00000183598	ENSG00000183598		"Histones / Replication-dependent"	25311	protein-coding gene	gene with protein product			"histone 2, H3d"				Standard	NM_001123375		Approved		uc010pbl.2	Q71DI3	OTTHUMG00000012092	ENST00000331491.1:c.25C>T	1.37:g.149785212G>A	ENSP00000333277:p.Arg9Cys						p.R9C	NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN			1	24	-			9					A2BDF6|A6NFS4|Q6B053	Missense_Mutation	SNP	ENST00000331491.1	37	c.25C>T	CCDS41388.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.328210	0.24080	.	.	ENSG00000183598	ENST00000331491	T	0.48522	0.81	4.13	4.13	0.48395	.	0.000000	0.56097	U	0.000031	T	0.54498	0.1862	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59247	-0.7490	7	0.56958	D	0.05	.	15.4963	0.75653	0.0:0.0:1.0:0.0	.	.	.	.	C	9	ENSP00000333277:R9C	ENSP00000333277:R9C	R	-	1	0	HIST2H3D	148051836	1.000000	0.71417	0.975000	0.42487	0.055000	0.15305	4.173000	0.58249	2.302000	0.77476	0.436000	0.28706	CGC		0.602	HIST2H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033452.1	NM_001123375		37	49	0	0	0	0.013114	0	37	49					A	149785212	G	A	149785212	3	1	294	1	0	0	0	0	1	0	0	0	7181	1116	39	1	387	1	HIST2H3D	1	149785212	Missense_Mutation	SNP	G	TCGA-EM-A2CN-01A-11D-A19J-08	34528683	149785212	99465409	2	6302											
WBP1	23559	broad.mit.edu	37	chr2	74685770	74685770	+	Frame_Shift_Del	DEL	G	G	-													gaacggcagcgaggaggcctGgggggcacttcgggcgccgc					rs566524770		TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr2:74685770delG	ENST00000233615.2	+	1	315	c.41delG	c.(40-42)tggfs	p.W14fs	WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000393972.3_Frame_Shift_Del_p.W14fs|WBP1_ENST00000409737.1_Frame_Shift_Del_p.W14fs	NM_012477.3	NP_036609.1	Q96G27	WBP1_HUMAN	WW domain binding protein 1	14							WW domain binding (GO:0050699)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						GAGGAGGCCTGGGGGGCACTT	0.632																																						ENST00000393972.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						c.(40-42)tgfs		WW domain binding protein 1							16	18	17					2																	74685770		2174	4255	6429	SO:0001589	frameshift_variant	23559						WW domain binding	g.chr2:74685770delG	U79457	CCDS1943.1	2p12	2012-04-20			ENSG00000239779	ENSG00000239779			12737	protein-coding gene	gene with protein product		606961				7644498	Standard	NM_012477		Approved	WBP-1	uc002slj.2	Q96G27	OTTHUMG00000129958	ENST00000233615.2:c.41delG	2.37:g.74685770delG	ENSP00000233615:p.Trp14fs					WBP1_ENST00000409737.1_Frame_Shift_Del_p.W14fs|WBP1_ENST00000233615.2_Frame_Shift_Del_p.W14fs|WBP1_ENST00000494741.1_3'UTR	p.W14fs			Q96G27	WBP1_HUMAN			1	244	+			14					B2RE02|O95637	Frame_Shift_Del	DEL	ENST00000233615.2	37	c.41delG	CCDS1943.1																																																																																				0.632	WBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252221.2	NM_012477		2	4						2	4	---	---	---	---	-	74685770	G	-	74685770	7	5	294	1	0	1	0	1	0	0	0	0	17254	1357	47	0	43	0	WBP1	2	74685770	Frame_Shift_Del	DEL	G	TCGA-EM-A2CN-01A-11D-A19J-08		74685770	168513603	3	6303											
KLHL24	54800	broad.mit.edu	37	chr3	183397022	183397022	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgcccaggccagtgtcctAtcatggctgtgtgactattc	10	11	1	1	rs143529905		TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr3:183397022A>G	ENST00000454652.2	+	9	2137	c.1751A>G	c.(1750-1752)tAt>tGt	p.Y584C	KLHL24_ENST00000242810.6_Missense_Mutation_p.Y584C	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	584						cell projection (GO:0042995)|cytoplasm (GO:0005737)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			CCAGTGTCCTATCATGGCTGT	0.463																																						ENST00000454652.1																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1750-1752)tAt>tGt		kelch-like family member 24		A	CYS/TYR	0,4406		0,0,2203	112	105	107		1751	6.1	1.0	3	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	no	missense	KLHL24	NM_017644.3	194	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging	584/601	183397022	1,13005	2203	4300	6503	SO:0001583	missense	54800					axon|cytoplasm|perikaryon		g.chr3:183397022A>G		CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"Kelch-like", "BTB/POZ domain containing"	25947	protein-coding gene	gene with protein product		611295	"kelch-like 24 (Drosophila)"				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.1751A>G	3.37:g.183397022A>G	ENSP00000395012:p.Tyr584Cys					KLHL24_ENST00000242810.6_Missense_Mutation_p.Y584C	p.Y584C			Q6TFL4	KLH24_HUMAN	all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)		9	2137	+	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		584					A5PLN8|Q9H620|Q9NXT9	Missense_Mutation	SNP	ENST00000454652.2	37	c.1751A>G	CCDS3246.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.044871	0.75732	0.0	1.16E-4	ENSG00000114796	ENST00000242810;ENST00000454652	T;T	0.66995	-0.24;-0.24	6.07	6.07	0.98685	Galactose oxidase, beta-propeller (1);	0.126462	0.56097	D	0.000034	T	0.65954	0.2741	L	0.53249	1.67	0.80722	D	1	B	0.19200	0.034	B	0.27076	0.076	T	0.61192	-0.7112	10	0.40728	T	0.16	.	16.635	0.85050	1.0:0.0:0.0:0.0	.	584	Q6TFL4	KLH24_HUMAN	C	584	ENSP00000242810:Y584C;ENSP00000395012:Y584C	ENSP00000242810:Y584C	Y	+	2	0	KLHL24	184879716	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.330000	0.79161	0.477000	0.44152	TAT		0.463	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	NM_017644		33	36	0	0	0	0.009535	0	33	36					G	183397022	A	G	183397022	3	3	294	1	0	0	0	0	1	0	0	0	8379	449	16	3	1773	3	KLHL24	3	183397022	Missense_Mutation	SNP	A	TCGA-EM-A2CN-01A-11D-A19J-08		183397022	14625408	4	6304											
TBC1D7	51256	broad.mit.edu	37	chr6	13307860	13307860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggattcaggcaaacatcCcgcaaagcacctcttgaacc	7	14	2	1			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr6:13307860C>T	ENST00000379300.3	-	6	880	c.637G>A	c.(637-639)Gga>Aga	p.G213R	TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000356436.4_Missense_Mutation_p.G213R|TBC1D7_ENST00000343141.4_Missense_Mutation_p.G167R|TBC1D7_ENST00000379307.2_Missense_Mutation_p.G186R|TBC1D7_ENST00000607658.1_Missense_Mutation_p.G186R	NM_001143964.2|NM_016495.4	NP_001137436.1|NP_057579.1	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	213	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				activation of Rho GTPase activity (GO:0032862)|negative regulation of cilium assembly (GO:1902018)|negative regulation of TOR signaling (GO:0032007)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of Rab GTPase activity (GO:0032851)|response to growth factor (GO:0070848)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			GGCAAACATCCCGCAAAGCAC	0.483																																						ENST00000607658.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22						c.(556-558)Gga>Aga		TBC1 domain family, member 7							115	111	112					6																	13307860		2203	4300	6503	SO:0001583	missense	51256				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity	g.chr6:13307860C>T	AF151073	CCDS4523.1, CCDS47376.1, CCDS58995.1	6p23	2013-07-10			ENSG00000145979	ENSG00000145979			21066	protein-coding gene	gene with protein product		612655				11042152, 17646400	Standard	XM_005249163		Approved	dJ257A7.3, FLJ32666	uc003nan.3	Q9P0N9	OTTHUMG00000014272	ENST00000379300.3:c.637G>A	6.37:g.13307860C>T	ENSP00000368602:p.Gly213Arg					TBC1D7_ENST00000356436.4_Missense_Mutation_p.G213R|TBC1D7_ENST00000379307.2_Missense_Mutation_p.G186R|TBC1D7_ENST00000343141.4_Missense_Mutation_p.G167R|TBC1D7_ENST00000379300.3_Missense_Mutation_p.G213R|TBC1D7_ENST00000607532.1_5'UTR	p.G186R			Q9P0N9	TBCD7_HUMAN	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)		5	706	-	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	213			Rab-GAP TBC.		E7EV96|Q2TU37|Q53F44|Q5SZL7|Q86VM8|Q96MB8	Missense_Mutation	SNP	ENST00000379300.3	37	c.556G>A	CCDS4523.1	.	.	.	.	.	.	.	.	.	.	C	35	5.463085	0.96257	.	.	ENSG00000145979	ENST00000334971;ENST00000356436;ENST00000379300;ENST00000379307;ENST00000343141;ENST00000452989;ENST00000450347;ENST00000422136;ENST00000446018;ENST00000420456	T;T;T;T;T;T;T;T;T	0.38240	2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;1.15	6.17	6.17	0.99709	Rab-GAP/TBC domain (3);	0.000000	0.85682	D	0.000000	T	0.57431	0.2053	M	0.84511	2.7	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.999;1.0	D;D;D;D	0.97110	0.966;1.0;0.97;0.99	T	0.50608	-0.8808	10	0.18276	T	0.48	-22.2615	19.8676	0.96824	0.0:1.0:0.0:0.0	.	167;186;186;213	Q2TU37;Q5SZL5;Q9P0N9-2;Q9P0N9	.;.;.;TBCD7_HUMAN	R	154;213;213;186;167;186;186;213;186;186	ENSP00000348813:G213R;ENSP00000368602:G213R;ENSP00000368609:G186R;ENSP00000343100:G167R;ENSP00000414292:G186R;ENSP00000404680:G186R;ENSP00000394425:G213R;ENSP00000417005:G186R;ENSP00000412102:G186R	ENSP00000334212:G154R	G	-	1	0	TBC1D7	13415839	1.000000	0.71417	0.950000	0.38849	0.953000	0.61014	7.324000	0.79115	2.941000	0.99782	0.655000	0.94253	GGA		0.483	TBC1D7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039896.2	NM_016495		40	56	0	0	0	0.00623	0	40	56					T	13307860	C	T	13307860	3	4	294	1	0	0	0	0	1	0	0	0	15621	632	22	2	256	2	TBC1D7	6	13307860	Missense_Mutation	SNP	C	TCGA-EM-A2CN-01A-11D-A19J-08		13307860	157807207	5	6305											
C6orf47	57827	broad.mit.edu	37	chr6	31627090	31627090	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccagaggcccagcggtccaCgcaggcccagtgtgtccaag	14	15	0	1			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr6:31627090C>A	ENST00000375911.1	-	1	1459	c.635G>T	c.(634-636)cGt>cTt	p.R212L	C6orf47-AS1_ENST00000422049.1_RNA	NM_021184.3	NP_067007.3	O95873	CF047_HUMAN	chromosome 6 open reading frame 47	212						cytoplasm (GO:0005737)				NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						CAGCGGTCCACGCAGGCCCAG	0.637																																						ENST00000375911.1																			0				NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						c.(634-636)cGt>cTt		chromosome 6 open reading frame 47							66	54	58					6																	31627090		1510	2709	4219	SO:0001583	missense	57827							g.chr6:31627090C>A	AF129756	CCDS34399.1	6p21.3	2011-12-13			ENSG00000204439	ENSG00000204439			19076	protein-coding gene	gene with protein product						2477242	Standard	NM_021184		Approved	D6S53E, G4	uc003nvm.1	O95873	OTTHUMG00000031172	ENST00000375911.1:c.635G>T	6.37:g.31627090C>A	ENSP00000365076:p.Arg212Leu					C6orf47-AS1_ENST00000422049.1_RNA	p.R212L	NM_021184.3	NP_067007.3	O95873	CF047_HUMAN			1	1459	-			212					B0UXA1|B0UZ50|Q5SSS6|Q95IG0	Missense_Mutation	SNP	ENST00000375911.1	37	c.635G>T	CCDS34399.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.285343	0.80803	.	.	ENSG00000204439	ENST00000375911;ENST00000538106	T	0.48201	0.82	5.62	5.62	0.85841	.	0.216119	0.28921	N	0.013718	T	0.47948	0.1473	M	0.62723	1.935	0.32710	N	0.511662	D	0.58970	0.984	P	0.52386	0.697	T	0.55749	-0.8092	10	0.72032	D	0.01	-1.5746	15.1593	0.72771	0.0:1.0:0.0:0.0	.	212	O95873	CF047_HUMAN	L	212	ENSP00000365076:R212L	ENSP00000365076:R212L	R	-	2	0	C6orf47	31735069	0.503000	0.26115	0.962000	0.40283	0.912000	0.54170	2.428000	0.44749	2.653000	0.90120	0.655000	0.94253	CGT		0.637	C6orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076324.1	NM_021184		45	34	1	0	1.76056e-25	0.011902	1.85785e-24	45	34					A	31627090	C	A	31627090	3	1	294	1	0	0	0	0	1	0	0	0	2364	536	19	4	253	4	C6orf47	6	31627090	Missense_Mutation	SNP	C	TCGA-EM-A2CN-01A-11D-A19J-08	18319230	31627090	139487977	6	6306											
SYNCRIP	10492	broad.mit.edu	37	chr6	86324743	86324743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctcctctcgcacctcgaaCgcctcttgctgatccaggac	7	18	2	1	rs200994802		TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr6:86324743C>T	ENST00000369622.3	-	11	2103	c.1603G>A	c.(1603-1605)Gtt>Att	p.V535I	SYNCRIP_ENST00000355238.6_Missense_Mutation_p.V535I|RP11-321N4.5_ENST00000503906.1_Silent_p.A70A	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	535	8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.|Interaction with SMN.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		GCACCTCGAACGCCTCTTGCT	0.627													C|||	1	0.000199681	0	0	5008	,	,		16495	0		0.001	False		,,,				2504	0					ENST00000355238.6																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(1603-1605)Gtt>Att		synaptotagmin binding, cytoplasmic RNA interacting protein							131	139	136					6																	86324743		2203	4300	6503	SO:0001583	missense	10492				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	g.chr6:86324743C>T	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"RNA binding motif (RRM) containing"	16918	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein Q"					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.1603G>A	6.37:g.86324743C>T	ENSP00000358635:p.Val535Ile					SYNCRIP_ENST00000369622.3_Missense_Mutation_p.V535I|RP11-321N4.5_ENST00000503906.1_Silent_p.A70A	p.V535I	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0389)	11	1809	-		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)	535			8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.|Interaction with SMN.		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Missense_Mutation	SNP	ENST00000369622.3	37	c.1603G>A	CCDS5005.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	9.934	1.215629	0.22373	.	.	ENSG00000135316	ENST00000355238;ENST00000369622	T;T	0.26957	1.7;1.7	5.39	5.39	0.77823	.	0.407398	0.26804	N	0.022402	T	0.07324	0.0185	L	0.27053	0.805	0.40026	D	0.975474	B;B;B;B;B;B;B	0.30482	0.071;0.117;0.071;0.117;0.281;0.117;0.071	B;B;B;B;B;B;B	0.22601	0.011;0.025;0.011;0.04;0.033;0.025;0.011	T	0.05937	-1.0855	10	0.02654	T	1	.	19.1481	0.93476	0.0:1.0:0.0:0.0	.	535;500;437;383;500;535;535	O60506;O60506-2;B7Z645;O60506-5;O60506-4;O60506-3;B2R8Z8	HNRPQ_HUMAN;.;.;.;.;.;.	I	535	ENSP00000347380:V535I;ENSP00000358635:V535I	ENSP00000347380:V535I	V	-	1	0	SYNCRIP	86381462	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.656000	0.54467	2.521000	0.84997	0.563000	0.77884	GTT		0.627	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		39	177	0	0	0	0.009718	0	39	177					T	86324743	C	T	86324743	3	4	294	1	0	0	0	0	1	0	0	0	15441	536	19	1	318	1	SYNCRIP	6	86324743	Missense_Mutation	SNP	C	TCGA-EM-A2CN-01A-11D-A19J-08	54697653	86324743	84790324	7	6307											
SMARCA2	6595	broad.mit.edu	37	chr9	2039818	2039818	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaAcagcagccgcagcagcagcc	12	16	0	0			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr9:2039818A>G	ENST00000382203.1	+	4	917	c.708A>G	c.(706-708)caA>caG	p.Q236Q	SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000349721.2_Silent_p.Q236Q|RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000357248.2_Silent_p.Q236Q|SMARCA2_ENST00000382194.1_Silent_p.Q236Q			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	236	Poly-Gln.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		agcagcagcaacagcagccgc	0.587																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(706-708)caA>caG		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							11	13	13					9																	2039818		2170	4235	6405	SO:0001819	synonymous_variant	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2039818A>G	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.708A>G	9.37:g.2039818A>G						SMARCA2_ENST00000349721.2_Silent_p.Q236Q|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000357248.2_Silent_p.Q236Q|SMARCA2_ENST00000382194.1_Silent_p.Q236Q	p.Q236Q			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	4	917	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	236			Poly-Gln.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	c.708A>G	CCDS34977.1																																																																																				0.587	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		3	31	0	0	0	0.009096	0	3	31					G	2039818	A	G	2039818	2	3	294	1	0	0	0	0	0	0	0	1	14769	40	2	3		3	SMARCA2	9	2039818	Silent	SNP	A	TCGA-EM-A2CN-01A-11D-A19J-08		2039818	139173613	8	6308											
MOBKL2B	79817	broad.mit.edu	37	chr9	27359236	27359236	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctttgggaagggaacaccTagagaagaaaaaaagaagaa	11	4	1	4			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr9:27359236T>C	ENST00000262244.5	-	3	843		c.e3-2		MOB3B_ENST00000603061.1_Splice_Site	NM_024761.4	NP_079037.3	Q86TA1	MOB3B_HUMAN	MOB kinase activator 3B								metal ion binding (GO:0046872)										AGGGAACACCTAGAGAAGAAA	0.453																																						ENST00000262244.5																			0											c.e3-2		MOB kinase activator 3B							84	92	89					9																	27359236		2203	4300	6503	SO:0001630	splice_region_variant	79817						metal ion binding|protein binding	g.chr9:27359236T>C	AK023266	CCDS6520.1	9p21.1	2012-07-05	2011-09-28	2011-09-28	ENSG00000120162	ENSG00000120162		"MOB kinase activators"	23825	protein-coding gene	gene with protein product	"monopolar spindle 1 binding, MOB1, domain containing"		"MOB1, Mps One Binder kinase activator-like 2B (yeast)", "chromosome 9 open reading frame 35"	MOBKL2B, C9orf35		12477932	Standard	NM_024761		Approved	MOB1D, FLJ13204	uc003zqn.3	Q86TA1	OTTHUMG00000019717	ENST00000262244.5:c.419-2A>G	9.37:g.27359236T>C						MOB3B_ENST00000603061.1_Splice_Site		NM_024761.4	NP_079037.3	Q86TA1	MOL2B_HUMAN			3	843	-								Q8NEB4|Q9H8V4	Splice_Site	SNP	ENST00000262244.5	37		CCDS6520.1	.	.	.	.	.	.	.	.	.	.	T	16.42	3.117488	0.56505	.	.	ENSG00000120162	ENST00000262244	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4786	0.61322	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MOBKL2B	27349236	1.000000	0.71417	0.996000	0.52242	0.594000	0.36715	8.036000	0.88901	1.877000	0.54381	0.254000	0.18369	.		0.453	MOB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051974.2	NM_024761	Intron	59	71	0	0	0	0.01441	0	59	71					C	27359236	T	C	27359236	5	2	294	1	0	0	0	0	0	0	1	0	9685	1536	53	3	241	3	MOBKL2B	9	27359236	Splice_Site	SNP	T	TCGA-EM-A2CN-01A-11D-A19J-08	25319418	27359236	113854195	9	6309											
LAMC3	10319	broad.mit.edu	37	chr9	133917103	133917103	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcccctgcaaagagaatgtgGaaggcaacctatgtgacagg	13	9	0	2			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr9:133917103G>T	ENST00000361069.4	+	7	1496	c.1363G>T	c.(1363-1365)Gaa>Taa	p.E455*	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	455	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		AGAGAATGTGGAAGGCAACCT	0.582																																						ENST00000361069.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(1363-1365)Gaa>Taa		laminin, gamma 3							49	43	45					9																	133917103		2203	4300	6503	SO:0001587	stop_gained	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133917103G>T	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.1363G>T	9.37:g.133917103G>T	ENSP00000354360:p.Glu455*					LAMC3_ENST00000480883.1_3'UTR	p.E455*	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	7	1496	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	455			Laminin EGF-like 4.		B1APX9|B1APY0|Q59H72	Nonsense_Mutation	SNP	ENST00000361069.4	37	c.1363G>T	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	G	40	8.463671	0.98822	.	.	ENSG00000050555	ENST00000361069;ENST00000355048;ENST00000320021	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	16.8071	0.85708	0.0:0.0:1.0:0.0	.	.	.	.	X	455	.	ENSP00000325873:E455X	E	+	1	0	LAMC3	132906924	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	9.452000	0.97615	2.311000	0.77944	0.462000	0.41574	GAA		0.582	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		13	43	1	0	0.000308642	0.003163	0.0029468	13	43					T	133917103	G	T	133917103	4	4	294	1	0	0	0	0	0	1	0	0	8616	1175	41	4	1389	4	LAMC3	9	133917103	Nonsense_Mutation	SNP	G	TCGA-EM-A2CN-01A-11D-A19J-08	106557867	133917103	7296328	10	6310											
CDHR1	92211	broad.mit.edu	37	chr10	85972879	85972879	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgcagaggaacccaacaaCctggtggactattccatcac	9	12	1	1			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr10:85972879C>T	ENST00000372117.3	+	16	1918	c.1815C>T	c.(1813-1815)aaC>aaT	p.N605N	CDHR1_ENST00000440770.2_Silent_p.N309N|CDHR1_ENST00000332904.3_Silent_p.N605N	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	605	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						AACCCAACAACCTGGTGGACT	0.557																																						ENST00000372117.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(1813-1815)aaC>aaT		cadherin-related family member 1							123	107	113					10																	85972879		2203	4300	6503	SO:0001819	synonymous_variant	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85972879C>T	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"Cadherins / Cadherin-related"	14550	protein-coding gene	gene with protein product		609502	"protocadherin 21"	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1815C>T	10.37:g.85972879C>T						CDHR1_ENST00000440770.2_Silent_p.N309N|CDHR1_ENST00000332904.3_Silent_p.N605N	p.N605N	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN			16	1918	+			605			Cadherin 6.		Q69YZ8|Q8IXY5	Silent	SNP	ENST00000372117.3	37	c.1815C>T	CCDS7372.1																																																																																				0.557	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		60	59	0	0	0	0.01441	0	60	59					T	85972879	C	T	85972879	2	4	294	1	0	0	0	0	0	0	0	1	3118	506	18	2		2	CDHR1	10	85972879	Silent	SNP	C	TCGA-EM-A2CN-01A-11D-A19J-08		85972879	49561868	11	6311											
KCNA4	3739	broad.mit.edu	37	chr11	30033056	30033056	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcttggctgggacaagcaaaGcagcgaaccacaaactcaaa	10	11	1	0			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr11:30033056G>T	ENST00000328224.6	-	2	2403	c.1170C>A	c.(1168-1170)tgC>tgA	p.C390*	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	390					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	GACAAGCAAAGCAGCGAACCA	0.448																																						ENST00000328224.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1168-1170)tgC>tgA		potassium voltage-gated channel, shaker-related subfamily, member 4							81	78	79					11																	30033056		2050	4228	6278	SO:0001587	stop_gained	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033056G>T	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6222	protein-coding gene	gene with protein product		176266	"potassium voltage-gated channel, shaker-related subfamily, member 4-like"	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1170C>A	11.37:g.30033056G>T	ENSP00000328511:p.Cys390*						p.C390*	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	2403	-			390						Nonsense_Mutation	SNP	ENST00000328224.6	37	c.1170C>A	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	G	46	12.715507	0.99690	.	.	ENSG00000182255	ENST00000328224	.	.	.	5.3	4.39	0.52855	.	0.113958	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	10.2599	0.43421	0.1514:0.0:0.8486:0.0	.	.	.	.	X	390	.	ENSP00000328511:C390X	C	-	3	2	KCNA4	29989632	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.029000	0.49712	1.237000	0.43756	0.563000	0.77884	TGC		0.448	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		47	73	1	0	1.02687e-29	0.013114	1.1129e-28	47	73					T	30033056	G	T	30033056	4	4	294	1	0	0	0	0	0	1	0	0	8005	963	34	4	795	4	KCNA4	11	30033056	Nonsense_Mutation	SNP	G	TCGA-EM-A2CN-01A-11D-A19J-08		30033056	104973460	12	6312											
FAT3	120114	broad.mit.edu	37	chr11	92577600	92577600	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagcctgcgcatcatcagCatccagcccgtggcaggcac	11	16	2	0	rs576218915	byFrequency	TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr11:92577600C>T	ENST00000298047.6	+	18	11084	c.11067C>T	c.(11065-11067)agC>agT	p.S3689S	FAT3_ENST00000533797.1_Silent_p.S24S|FAT3_ENST00000525166.1_Silent_p.S3539S|FAT3_ENST00000409404.2_Silent_p.S3689S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3689					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCATCATCAGCATCCAGCCCG	0.602										TCGA Ovarian(4;0.039)			C|||	2	0.000399361	0	0.0029	5008	,	,		22262	0		0	False		,,,				2504	0					ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(11065-11067)agC>agT		FAT atypical cadherin 3							40	42	41					11																	92577600		2173	4272	6445	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92577600C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11067C>T	11.37:g.92577600C>T		TCGA Ovarian(4;0.039)				FAT3_ENST00000533797.1_Silent_p.S24S|FAT3_ENST00000409404.2_Silent_p.S3689S|FAT3_ENST00000525166.1_Silent_p.S3539S	p.S3689S			Q8TDW7	FAT3_HUMAN			18	11084	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3689					B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.11067C>T																																																																																					0.602	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		16	24	0	0	0	0.004007	0	16	24					T	92577600	C	T	92577600	2	4	294	1	0	0	0	0	0	0	0	1	5691	709	25	2		2	FAT3	11	92577600	Silent	SNP	C	TCGA-EM-A2CN-01A-11D-A19J-08	62544544	92577600	42428916	13	6313											
C11orf87	399947	broad.mit.edu	37	chr11	109294829	109294829	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcgtcccctggcctccCgtgccagggtccctgtgctc	10	19	1	0			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr11:109294829C>T	ENST00000327419.6	+	2	873	c.470C>T	c.(469-471)cCg>cTg	p.P157L	RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	157						integral component of membrane (GO:0016021)		p.P157R(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						CCTGGCCTCCCGTGCCAGGGT	0.672																																						ENST00000327419.6																			1	Substitution - Missense(1)	p.P157R(1)	ovary(1)	breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(469-471)cCg>cTg		chromosome 11 open reading frame 87							43	47	46					11																	109294829		2201	4296	6497	SO:0001583	missense	399947					integral to membrane		g.chr11:109294829C>T	AB096240, BC035798	CCDS31672.1	11q22.3	2013-12-13	2013-12-13	2013-12-13	ENSG00000185742	ENSG00000185742			33788	protein-coding gene	gene with protein product	"neuronal integral membrane protein 1"					12477932	Standard	NM_207645		Approved	LOH11CR1A, LOC399947, NEURIM1	uc010rwb.2	Q6NUJ2		ENST00000327419.6:c.470C>T	11.37:g.109294829C>T	ENSP00000331581:p.Pro157Leu					RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA	p.P157L	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN			2	873	+			157					B4E169	Missense_Mutation	SNP	ENST00000327419.6	37	c.470C>T	CCDS31672.1	.	.	.	.	.	.	.	.	.	.	C	4.995	0.184756	0.09495	.	.	ENSG00000185742	ENST00000327419	.	.	.	3.7	1.7	0.24286	.	0.117442	0.31601	U	0.007380	T	0.11495	0.0280	N	0.08118	0	0.29042	N	0.885033	B	0.02656	0.0	B	0.04013	0.001	T	0.24225	-1.0166	9	0.02654	T	1	-2.6201	1.527	0.02527	0.2459:0.4406:0.1849:0.1286	.	157	Q6NUJ2	CK087_HUMAN	L	157	.	ENSP00000331581:P157L	P	+	2	0	C11orf87	108800039	0.116000	0.22171	0.926000	0.36857	0.972000	0.66771	-0.299000	0.08254	0.469000	0.27268	0.655000	0.94253	CCG		0.672	C11orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390403.1	NM_207645		48	55	0	0	0	0.013114	0	48	55					T	109294829	C	T	109294829	3	4	294	1	0	0	0	0	1	0	0	0	1669	652	23	1	472	1	C11orf87	11	109294829	Missense_Mutation	SNP	C	TCGA-EM-A2CN-01A-11D-A19J-08	16717229	109294829	25711687	14	6314											
TSC22D1	8848	broad.mit.edu	37	chr13	45148706	45148708	+	In_Frame_Del	DEL	TGC	TGC	-													gttgctgttgttgttgttgtTgctgctgctgctgctgcacc					rs112613609		TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr13:45148706_45148708delTGC	ENST00000458659.2	-	1	1993_1995	c.1503_1505delGCA	c.(1501-1506)cagcaa>caa	p.501_502QQ>Q	TSC22D1_ENST00000501704.2_In_Frame_Del_p.501_502QQ>Q|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	501	Gln-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		ttgttgttgttgctgctgctgct	0.507																																						ENST00000458659.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1501-1506)caa>ca		TSC22 domain family, member 1																																				SO:0001651	inframe_deletion	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45148706_45148708delTGC	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"transforming growth factor beta 1 induced transcript 4"	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1503_1505delGCA	13.37:g.45148715_45148717delTGC	ENSP00000397435:p.Gln509del					TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ507del	p.QQ507del	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	1993_1995	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	507			Gln-rich.		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	In_Frame_Del	DEL	ENST00000458659.2	37	c.1503_1505delGCA	CCDS31966.1																																																																																				0.507	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		9	193						9	193	---	---	---	---	-	45148708	TGC	-	45148706	7	5	294	1	0	1	0	1	0	0	0	0	16604	1812	63	0	1857	0	TSC22D1	13	45148706	In_Frame_Del	DEL	TGC	TCGA-EM-A2CN-01A-11D-A19J-08		45148706	70021172	15	6315											
PSMA6	5687	broad.mit.edu	37	chr14	35761712	35761712	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggttccagcgccggttttgaCcgccacattaccattttttc	8	13	0	1			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr14:35761712C>A	ENST00000261479.4	+	1	150	c.30C>A	c.(28-30)gaC>gaA	p.D10E	PSMA6_ENST00000553809.1_Missense_Mutation_p.D10E|PSMA6_ENST00000556506.1_Missense_Mutation_p.D10E|PSMA6_ENST00000540871.1_Intron|KIAA0391_ENST00000557565.1_Intron|AL121594.1_ENST00000578587.1_RNA|PSMA6_ENST00000555764.1_5'UTR	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	10					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 ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of inflammatory response (GO:0050727)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|myofibril (GO:0030016)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)|sarcomere (GO:0030017)	endopeptidase activity (GO:0004175)|NF-kappaB binding (GO:0051059)|purine ribonucleoside triphosphate binding (GO:0035639)|RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		CCGGTTTTGACCGCCACATTA	0.562																																						ENST00000261479.4																			0				kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10						c.(28-30)gaC>gaA		proteasome (prosome, macropain) subunit, alpha type, 6							110	105	107					14																	35761712		2203	4300	6503	SO:0001583	missense	5687				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 ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|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|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity	g.chr14:35761712C>A	X59417	CCDS9655.1, CCDS61437.1, CCDS61438.1	14q13	2003-03-12			ENSG00000100902	ENSG00000100902		"Proteasome (prosome, macropain) subunits"	9535	protein-coding gene	gene with protein product		602855				1888762, 8811196	Standard	NM_002791		Approved	IOTA, PROS27, p27K, MGC22756, MGC2333, MGC23846	uc001wtd.3	P60900	OTTHUMG00000140221	ENST00000261479.4:c.30C>A	14.37:g.35761712C>A	ENSP00000261479:p.Asp10Glu					PSMA6_ENST00000553809.1_Missense_Mutation_p.D10E|PSMA6_ENST00000540871.1_Intron|PSMA6_ENST00000556506.1_Missense_Mutation_p.D10E|KIAA0391_ENST00000557565.1_Intron|PSMA6_ENST00000555764.1_5'UTR	p.D10E	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)	1	150	+	Breast(36;0.0519)|Hepatocellular(127;0.158)		10					B2R7J9|B4DQR4|B4DXJ9|P34062|Q6IB60	Missense_Mutation	SNP	ENST00000261479.4	37	c.30C>A	CCDS9655.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.034738	0.93575	.	.	ENSG00000100902	ENST00000261479;ENST00000553809;ENST00000556506	T;T;T	0.58797	0.31;0.31;0.31	5.96	4.9	0.64082	Proteasome, alpha-subunit, conserved site (3);	0.000000	0.85682	D	0.000000	T	0.82089	0.4961	H	0.95917	3.74	0.80722	D	1	D	0.55172	0.97	D	0.66716	0.946	D	0.86500	0.1803	10	0.66056	D	0.02	-0.2196	14.0078	0.64475	0.0:0.917:0.0:0.083	.	10	P60900	PSA6_HUMAN	E	10	ENSP00000261479:D10E;ENSP00000452603:D10E;ENSP00000450528:D10E	ENSP00000261479:D10E	D	+	3	2	PSMA6	34831463	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	0.555000	0.23422	2.826000	0.97356	0.655000	0.94253	GAC		0.562	PSMA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276684.1			9	115	1	0	0.000673444	0.008291	0.00628026	9	115					A	35761712	C	A	35761712	3	1	294	1	0	0	0	0	1	0	0	0	12671	506	18	4	32	4	PSMA6	14	35761712	Missense_Mutation	SNP	C	TCGA-EM-A2CN-01A-11D-A19J-08		35761712	71587828	16	6316											
GRAMD2	196996	broad.mit.edu	37	chr15	72457708	72457708	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctcaccagagactcaggtTcccctgaaaattctcttaca	5	14	3	2			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr15:72457708T>G	ENST00000309731.7	-	8	600	c.587A>C	c.(586-588)gAa>gCa	p.E196A	GRAMD2_ENST00000564184.1_5'UTR	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	196						integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						AGACTCAGGTTCCCCTGAAAA	0.552																																						ENST00000309731.7																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(586-588)gAa>gCa		GRAM domain containing 2							110	111	111					15																	72457708		2199	4297	6496	SO:0001583	missense	196996					integral to membrane		g.chr15:72457708T>G	AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03					27287	protein-coding gene	gene with protein product						12477932	Standard	NM_001012642		Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.587A>C	15.37:g.72457708T>G	ENSP00000311657:p.Glu196Ala					GRAMD2_ENST00000564184.1_5'UTR	p.E196A	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN			8	600	-			196					B3KT68	Missense_Mutation	SNP	ENST00000309731.7	37	c.587A>C	CCDS32283.1	.	.	.	.	.	.	.	.	.	.	T	12.52	1.964070	0.34659	.	.	ENSG00000175318	ENST00000309731	T	0.35236	1.32	5.4	4.26	0.50523	.	1.532230	0.04477	N	0.377127	T	0.54303	0.1850	L	0.61218	1.895	0.33944	D	0.643576	D	0.71674	0.998	D	0.64776	0.929	T	0.47394	-0.9121	10	0.08179	T	0.78	.	10.9284	0.47203	0.0:0.0:0.1574:0.8426	.	196	Q8IUY3	GRAM2_HUMAN	A	196	ENSP00000311657:E196A	ENSP00000311657:E196A	E	-	2	0	GRAMD2	70244762	1.000000	0.71417	0.038000	0.18304	0.008000	0.06430	3.987000	0.56944	0.864000	0.35578	0.533000	0.62120	GAA		0.552	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420040.1	NM_001012642		7	118	0	0	0	0.00308	0	7	118					G	72457708	T	G	72457708	3	3	294	1	0	0	0	0	1	0	0	0	6750	1783	62	5	497	5	GRAMD2	15	72457708	Missense_Mutation	SNP	T	TCGA-EM-A2CN-01A-11D-A19J-08		72457708	30073684	17	6317											
ADCY9	115	broad.mit.edu	37	chr16	4164144	4164144	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctgattttctcacactTggtctcctcacacaggcggt	10	12	3	1			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr16:4164144T>G	ENST00000294016.3	-	2	1838	c.1300A>C	c.(1300-1302)Aag>Cag	p.K434Q		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	434	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				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)|cellular response to glucagon stimulus (GO:0071377)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTCTCACACTTGGTCTCCTCA	0.612																																						ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1300-1302)Aag>Cag		adenylate cyclase 9							76	80	79					16																	4164144		2197	4300	6497	SO:0001583	missense	115				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 plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4164144T>G	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1300A>C	16.37:g.4164144T>G	ENSP00000294016:p.Lys434Gln						p.K434Q	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			2	1838	-			434			Guanylate cyclase 1.		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.1300A>C	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	T	11.61	1.691431	0.30052	.	.	ENSG00000162104	ENST00000294016	D	0.84589	-1.87	5.28	5.28	0.74379	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.197704	0.45126	D	0.000388	T	0.74928	0.3781	N	0.16016	0.355	0.41312	D	0.987112	B	0.17038	0.02	B	0.17433	0.018	T	0.70396	-0.4883	10	0.33940	T	0.23	.	15.2396	0.73458	0.0:0.0:0.0:1.0	.	434	O60503	ADCY9_HUMAN	Q	434	ENSP00000294016:K434Q	ENSP00000294016:K434Q	K	-	1	0	ADCY9	4104145	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.207000	0.51106	2.007000	0.58848	0.454000	0.30748	AAG		0.612	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			6	136	0	0	0	0.001168	0	6	136					G	4164144	T	G	4164144	3	3	294	1	0	0	0	0	1	0	0	0	301	1821	63	5	2801	5	ADCY9	16	4164144	Missense_Mutation	SNP	T	TCGA-EM-A2CN-01A-11D-A19J-08		4164144	86190609	18	6318											
GAS8	2622	broad.mit.edu	37	chr16	90103675	90103675	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcggaagaaggaggaccaCctggagagggagatggcaga	18	6	0	4			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr16:90103675C>T	ENST00000268699.4	+	7	914	c.792C>T	c.(790-792)caC>caT	p.H264H	GAS8_ENST00000536122.1_Silent_p.H239H|GAS8_ENST00000540721.1_3'UTR	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	264					cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		AGGAGGACCACCTGGAGAGGG	0.627																																						ENST00000268699.4																			0				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(790-792)caC>caT		growth arrest-specific 8							65	63	63					16																	90103675		2198	4300	6498	SO:0001819	synonymous_variant	2622				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding	g.chr16:90103675C>T	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"growth arrest-specific 11"	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.792C>T	16.37:g.90103675C>T						GAS8_ENST00000540721.1_3'UTR|GAS8_ENST00000536122.1_Silent_p.H239H	p.H264H	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.029)	7	914	+		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	264					B2RCT1|B7Z4U1|G3V1L5|Q2M234	Silent	SNP	ENST00000268699.4	37	c.792C>T	CCDS10992.1																																																																																				0.627	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			4	21	0	0	0	0.009096	0	4	21					T	90103675	C	T	90103675	2	4	294	1	0	0	0	0	0	0	0	1	6251	506	18	2		2	GAS8	16	90103675	Silent	SNP	C	TCGA-EM-A2CN-01A-11D-A19J-08	85939531	90103675	251078	19	6319											
ARVCF	421	broad.mit.edu	37	chr22	19969230	19969230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggcacctggcgtactgtccGagtggtcaccgtcttgacag	14	12	2	1			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr22:19969230G>A	ENST00000263207.3	-	5	691	c.400C>T	c.(400-402)Cgg>Tgg	p.R134W	ARVCF_ENST00000401994.1_Missense_Mutation_p.R71W|ARVCF_ENST00000406522.1_Missense_Mutation_p.R71W|ARVCF_ENST00000487793.1_5'UTR|ARVCF_ENST00000406259.1_Missense_Mutation_p.R134W|ARVCF_ENST00000344269.3_Missense_Mutation_p.R71W	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	134					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CGTACTGTCCGAGTGGTCACC	0.622																																						ENST00000263207.3																			0				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13						c.(400-402)Cgg>Tgg		armadillo repeat gene deleted in velocardiofacial syndrome							34	41	38					22																	19969230		2187	4258	6445	SO:0001583	missense	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19969230G>A		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"Armadillo repeat containing"	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.400C>T	22.37:g.19969230G>A	ENSP00000263207:p.Arg134Trp					ARVCF_ENST00000406522.1_Missense_Mutation_p.R71W|ARVCF_ENST00000344269.3_Missense_Mutation_p.R71W|ARVCF_ENST00000401994.1_Missense_Mutation_p.R71W|ARVCF_ENST00000406259.1_Missense_Mutation_p.R134W|ARVCF_ENST00000487793.1_5'UTR	p.R134W	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN			5	691	-	Colorectal(54;0.0993)		134					B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	37	c.400C>T	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609474	0.66558	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	4.43	-0.632	0.11523	.	0.000000	0.85682	D	0.000000	T	0.37919	0.1021	M	0.66939	2.045	0.47778	D	0.999512	D	0.65815	0.995	P	0.49387	0.609	T	0.47249	-0.9132	9	.	.	.	-5.1212	15.2039	0.73162	0.0:0.0:0.1774:0.8226	.	134	O00192	ARVC_HUMAN	W	134;71;71;71;134	ENSP00000263207:R134W;ENSP00000342042:R71W;ENSP00000384341:R71W;ENSP00000384732:R71W;ENSP00000385444:R134W	.	R	-	1	2	ARVCF	18349230	0.016000	0.18221	0.354000	0.25760	0.905000	0.53344	0.185000	0.16958	0.125000	0.18397	0.551000	0.68910	CGG		0.622	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		38	58	0	0	0	0.007835	0	38	58					A	19969230	G	A	19969230	3	1	294	1	0	0	0	0	1	0	0	0	1003	1057	37	1	2548	1	ARVCF	22	19969230	Missense_Mutation	SNP	G	TCGA-EM-A2CN-01A-11D-A19J-08		19969230	31335336	20	6320											
SF3A1	10291	broad.mit.edu	37	chr22	30734812	30734812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactgaagtgatgggtggaGccgagctggggatgttggtg	20	5	0	2			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr22:30734812G>A	ENST00000215793.8	-	11	1863	c.1709C>T	c.(1708-1710)gCt>gTt	p.A570V	SF3A1_ENST00000439242.1_Missense_Mutation_p.A505V	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	570					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GATGGGTGGAGCCGAGCTGGG	0.542																																						ENST00000439242.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						c.(1513-1515)gCt>gTt		splicing factor 3a, subunit 1, 120kDa							205	211	209					22																	30734812		2203	4300	6503	SO:0001583	missense	10291				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	g.chr22:30734812G>A	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"splicing factor 3a, subunit 1, 120kD"			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.1709C>T	22.37:g.30734812G>A	ENSP00000215793:p.Ala570Val					SF3A1_ENST00000215793.7_Missense_Mutation_p.A570V	p.A505V	NM_001005409.1	NP_001005409.1	Q15459	SF3A1_HUMAN			11	1645	-			570					E9PAW1	Missense_Mutation	SNP	ENST00000215793.8	37	c.1514C>T	CCDS13875.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499118	0.44455	.	.	ENSG00000099995	ENST00000439242;ENST00000215793;ENST00000536049;ENST00000444440	T;T	0.31510	1.49;1.5	5.67	5.67	0.87782	.	0.157678	0.56097	D	0.000025	T	0.29976	0.0750	L	0.46157	1.445	0.58432	D	0.999994	B	0.30482	0.281	B	0.24974	0.057	T	0.03555	-1.1025	10	0.23891	T	0.37	-18.4087	19.7667	0.96346	0.0:0.0:1.0:0.0	.	570	Q15459	SF3A1_HUMAN	V	505;570;467;221	ENSP00000390336:A505V;ENSP00000215793:A570V	ENSP00000215793:A570V	A	-	2	0	SF3A1	29064812	0.998000	0.40836	0.891000	0.34965	0.970000	0.65996	3.108000	0.50337	2.681000	0.91329	0.655000	0.94253	GCT		0.542	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		95	102	0	0	0	0.01441	0	95	102					A	30734812	G	A	30734812	3	1	294	1	0	0	0	0	1	0	0	0	14146	971	34	2	696	2	SF3A1	22	30734812	Missense_Mutation	SNP	G	TCGA-EM-A2CN-01A-11D-A19J-08	10765582	30734812	20569754	21	6321											
RIMS3	9783	broad.mit.edu	37	chr1	41098767	41098767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggtgttgccagtgtctgtCgccccacaatctgagctggt	13	11	2	1			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr1:41098767C>T	ENST00000372684.3	-	5	915	c.446G>A	c.(445-447)cGa>cAa	p.R149Q	RIMS3_ENST00000372683.1_Missense_Mutation_p.R149Q	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	149					calcium ion-dependent exocytosis (GO:0017156)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			CAGTGTCTGTCGCCCCACAAT	0.592																																						ENST00000372684.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(445-447)cGa>cAa		regulating synaptic membrane exocytosis 3							157	141	146					1																	41098767		2203	4300	6503	SO:0001583	missense	9783				neurotransmitter transport	cell junction|synapse		g.chr1:41098767C>T	BC003103	CCDS30687.1	1p34.2	2013-09-19			ENSG00000117016	ENSG00000117016			21292	protein-coding gene	gene with protein product		611600				12620390, 10748113	Standard	NM_014747		Approved	RIM3, NIM3	uc001cfu.1	Q9UJD0	OTTHUMG00000007453	ENST00000372684.3:c.446G>A	1.37:g.41098767C>T	ENSP00000361769:p.Arg149Gln					RIMS3_ENST00000372683.1_Missense_Mutation_p.R149Q	p.R149Q	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)		5	915	-	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	149					D3DPV8|Q92511|X5D7U7	Missense_Mutation	SNP	ENST00000372684.3	37	c.446G>A	CCDS30687.1	.	.	.	.	.	.	.	.	.	.	C	35	5.440590	0.96168	.	.	ENSG00000117016	ENST00000372684;ENST00000372683	T;T	0.42900	0.96;0.96	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.67335	0.2882	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.72010	-0.4419	10	0.59425	D	0.04	-5.2759	16.0031	0.80310	0.0:1.0:0.0:0.0	.	149	Q9UJD0	RIMS3_HUMAN	Q	149	ENSP00000361769:R149Q;ENSP00000361768:R149Q	ENSP00000361768:R149Q	R	-	2	0	RIMS3	40871354	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.770000	0.85390	2.379000	0.81126	0.305000	0.20034	CGA		0.592	RIMS3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019585.1	NM_014747		76	69	0	0	0	1	0	76	69					T	41098767	C	T	41098767	3	4	295	1	0	0	0	0	1	0	0	0	13369	884	31	1	496	1	RIMS3	1	41098767	Missense_Mutation	SNP	C	TCGA-EM-A2CO-01A-11D-A19J-08		41098767	208151854	1	6322											
ARHGAP29	9411	broad.mit.edu	37	chr1	94643557	94643560	+	Frame_Shift_Del	DEL	GTGA	GTGA	-													ggacccatcgaagatcttctGtgagtaagtaatgagaaact							TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr1:94643557_94643560delGTGA	ENST00000260526.6	-	21	2826_2829	c.2644_2647delTCAC	c.(2644-2649)tcacagfs	p.SQ882fs	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	882	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)		AAGATCTTCTGTGAGTAAGTAATG	0.446																																						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.(2644-2649)agfs		Rho GTPase activating protein 29																																				SO:0001589	frameshift_variant	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94643557_94643560delGTGA		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.2644_2647delTCAC	1.37:g.94643557_94643560delGTGA	ENSP00000260526:p.Ser882fs					ARHGAP29_ENST00000482481.1_5'UTR	p.SQ882fs	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	21	2826_2829	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	882			Rho-GAP.		O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Frame_Shift_Del	DEL	ENST00000260526.6	37	c.2644_2647delTCAC	CCDS748.1																																																																																				0.446	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		20	85						20	85	---	---	---	---	-	94643560	GTGA	-	94643557	7	5	295	1	0	1	0	1	0	0	0	0	878	1386	48	0	1150	0	ARHGAP29	1	94643557	Frame_Shift_Del	DEL	GTGA	TCGA-EM-A2CO-01A-11D-A19J-08	53544790	94643557	154607064	2	6323											
VCAM1	7412	broad.mit.edu	37	chr1	101188796	101188796	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctttactcctgtcattgaGgatattggaaaagttcttgt	8	7	2	1			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr1:101188796G>T	ENST00000294728.2	+	3	662	c.561G>T	c.(559-561)gaG>gaT	p.E187D	VCAM1_ENST00000370119.4_Missense_Mutation_p.E125D|VCAM1_ENST00000370115.1_Missense_Mutation_p.E187D|VCAM1_ENST00000347652.2_Missense_Mutation_p.E187D	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	187	Ig-like C2-type 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CTGTCATTGAGGATATTGGAA	0.418																																						ENST00000294728.2																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(559-561)gaG>gaT		vascular cell adhesion molecule 1	Carvedilol(DB01136)						123	116	119					1																	101188796		2203	4300	6503	SO:0001583	missense	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101188796G>T	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.561G>T	1.37:g.101188796G>T	ENSP00000294728:p.Glu187Asp					VCAM1_ENST00000370119.4_Missense_Mutation_p.E125D|VCAM1_ENST00000347652.2_Missense_Mutation_p.E187D|VCAM1_ENST00000370115.1_Missense_Mutation_p.E187D	p.E187D	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	3	662	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	187			Ig-like C2-type 2.		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	c.561G>T	CCDS773.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.520615	0.27211	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728;ENST00000370115	T;T;T;T	0.27402	1.67;1.67;1.67;1.67	5.42	-4.04	0.04010	Immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	0.706955	0.13918	N	0.353776	T	0.29061	0.0722	M	0.81802	2.56	0.29062	N	0.88386	P;P;D	0.56746	0.942;0.955;0.977	P;P;D	0.65773	0.766;0.904;0.938	T	0.23691	-1.0181	10	0.21014	T	0.42	-16.8517	8.0585	0.30619	0.5435:0.0:0.3501:0.1064	.	125;187;187	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	D	125;187;187;187	ENSP00000359137:E125D;ENSP00000304611:E187D;ENSP00000294728:E187D;ENSP00000359133:E187D	ENSP00000294728:E187D	E	+	3	2	VCAM1	100961384	0.921000	0.31238	0.095000	0.20976	0.085000	0.17905	-0.169000	0.09911	-0.671000	0.05274	-1.937000	0.00501	GAG		0.418	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		19	13	1	0	3.51602e-12	1	3.90668e-12	19	13					T	101188796	G	T	101188796	3	4	295	1	0	0	0	0	1	0	0	0	17134	991	35	4	571	4	VCAM1	1	101188796	Missense_Mutation	SNP	G	TCGA-EM-A2CO-01A-11D-A19J-08	6545239	101188796	148061825	3	6324											
CEPT1	10390	broad.mit.edu	37	chr1	111690383	111690383	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatgtggagattctcaccCggagtccccagtgggcttcg	13	11	1	2	rs556306202		TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr1:111690383C>T	ENST00000545121.1	+	2	255	c.47C>T	c.(46-48)cCg>cTg	p.P16L	CEPT1_ENST00000357172.4_Missense_Mutation_p.P16L	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	16					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	diacylglycerol cholinephosphotransferase activity (GO:0004142)|ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	GATTCTCACCCGGAGTCCCCA	0.393																																						ENST00000545121.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8						c.(46-48)cCg>cTg		choline/ethanolamine phosphotransferase 1	Choline(DB00122)						66	71	69					1																	111690383		2203	4300	6503	SO:0001583	missense	10390					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding	g.chr1:111690383C>T	AF068302	CCDS830.1	1p13	2010-07-08			ENSG00000134255	ENSG00000134255	2.7.8.1, 2.7.8.2		24289	protein-coding gene	gene with protein product						10191259, 12216837	Standard	XM_005270353		Approved		uc001eah.1	Q9Y6K0	OTTHUMG00000012357	ENST00000545121.1:c.47C>T	1.37:g.111690383C>T	ENSP00000441980:p.Pro16Leu					CEPT1_ENST00000357172.4_Missense_Mutation_p.P16L	p.P16L	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	2	255	+		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)	16					Q69YJ9|Q9P0Y8	Missense_Mutation	SNP	ENST00000545121.1	37	c.47C>T	CCDS830.1	.	.	.	.	.	.	.	.	.	.	C	9.362	1.068359	0.20067	.	.	ENSG00000134255	ENST00000545121;ENST00000357172	T;T	0.40225	1.04;1.04	4.68	1.69	0.24217	.	0.702655	0.14140	N	0.338800	T	0.09202	0.0227	N	0.12182	0.205	0.37694	D	0.92395	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.09271	-1.0682	10	0.40728	T	0.16	-33.8871	5.5817	0.17252	0.1587:0.6649:0.0:0.1764	.	16;16	Q9Y6K0;B3KN25	CEPT1_HUMAN;.	L	16	ENSP00000441980:P16L;ENSP00000349696:P16L	ENSP00000349696:P16L	P	+	2	0	CEPT1	111491906	0.927000	0.31430	0.996000	0.52242	0.983000	0.72400	0.354000	0.20146	0.267000	0.21916	-0.150000	0.13652	CCG		0.393	CEPT1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034462.2	NM_006090		5	45	0	0	0	1	0	5	45					T	111690383	C	T	111690383	3	4	295	1	0	0	0	0	1	0	0	0	3264	652	23	1	49	1	CEPT1	1	111690383	Missense_Mutation	SNP	C	TCGA-EM-A2CO-01A-11D-A19J-08	10501587	111690383	137560238	4	6325											
TSNAX	7257	broad.mit.edu	37	chr1	231696959	231696959	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggatgaaattaataaacaAttgatatttacgactgaaga	7	3	0	4			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr1:231696959A>G	ENST00000366639.4	+	5	611	c.453A>G	c.(451-453)caA>caG	p.Q151Q	TSNAX-DISC1_ENST00000602962.1_Silent_p.Q151Q	NM_005999.2	NP_005990.1	Q99598	TSNAX_HUMAN	translin-associated factor X	151	Interaction with C1D.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				TTAATAAACAATTGATATTTA	0.289																																						ENST00000602962.1																			0											c.(451-453)caA>caG									48	55	52					1																	231696959		2199	4291	6490	SO:0001819	synonymous_variant	0							g.chr1:231696959A>G	X95073	CCDS1596.1	1q42.2	2008-02-05			ENSG00000116918	ENSG00000116918			12380	protein-coding gene	gene with protein product		602964				9013868	Standard	NM_005999		Approved	TRAX	uc001huw.3	Q99598	OTTHUMG00000039486	ENST00000366639.4:c.453A>G	1.37:g.231696959A>G						TSNAX_ENST00000366639.4_Silent_p.Q151Q	p.Q151Q							5	611	+								B1APC6	Silent	SNP	ENST00000366639.4	37	c.453A>G	CCDS1596.1																																																																																				0.289	TSNAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095267.2	NM_005999		13	30	0	0	0	1	0	13	30					G	231696959	A	G	231696959	2	3	295	1	0	0	0	0	0	0	0	1	16628	98	4	3		3	TSNAX	1	231696959	Silent	SNP	A	TCGA-EM-A2CO-01A-11D-A19J-08	120006576	231696959	17553662	5	6326											
NEB	4703	broad.mit.edu	37	chr2	152390825	152390825	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgctcataatcagctctGtattttttctgctcaaacat	5	11	5	0			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr2:152390825G>A	ENST00000172853.10	-	115	16365	c.16218C>T	c.(16216-16218)taC>taT	p.Y5406Y	NEB_ENST00000409198.1_Silent_p.Y5406Y|NEB_ENST00000397345.3_Intron|NEB_ENST00000604864.1_Silent_p.Y7107Y|NEB_ENST00000603639.1_Intron|NEB_ENST00000427231.2_Silent_p.Y7107Y			P20929	NEBU_HUMAN	nebulin	5406					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AATCAGCTCTGTATTTTTTCT	0.443																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(21319-21321)taC>taT		nebulin							202	195	197					2																	152390825		1896	4132	6028	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152390825G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.16218C>T	2.37:g.152390825G>A						NEB_ENST00000409198.1_Silent_p.Y5406Y|NEB_ENST00000604864.1_Silent_p.Y7107Y|NEB_ENST00000397345.3_Intron|NEB_ENST00000172853.10_Silent_p.Y5406Y|NEB_ENST00000603639.1_Intron	p.Y7107Y	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	143	21523	-			5406					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.21321C>T																																																																																					0.443	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		5	72	0	0	0	1	0	5	72					A	152390825	G	A	152390825	2	1	295	1	0	0	0	0	0	0	0	1	10302	1372	48	2		2	NEB	2	152390825	Silent	SNP	G	TCGA-EM-A2CO-01A-11D-A19J-08		152390825	90808548	6	6327											
MFSD6	54842	broad.mit.edu	37	chr2	191301245	191301245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgagatgtgtaccaaagattCgcccaacaactcaccccacc	6	15	1	2	rs116097269	byFrequency	TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr2:191301245C>T	ENST00000392328.1	+	3	814	c.490C>T	c.(490-492)Cgc>Tgc	p.R164C	MFSD6_ENST00000281416.7_Missense_Mutation_p.R164C	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	164					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						ACCAAAGATTCGCCCAACAAC	0.428													C|||	6	0.00119808	0	0	5008	,	,		20101	0		0.006	False		,,,				2504	0					ENST00000392328.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						c.(490-492)Cgc>Tgc		major facilitator superfamily domain containing 6		C	CYS/ARG	6,4400	11.4+/-27.6	0,6,2197	98	104	102		490	1.4	0.5	2	dbSNP_132	102	68,8532	41.2+/-98.3	0,68,4232	yes	missense	MFSD6	NM_017694.3	180	0,74,6429	TT,TC,CC		0.7907,0.1362,0.569	benign	164/792	191301245	74,12932	2203	4300	6503	SO:0001583	missense	54842				transmembrane transport	integral to membrane		g.chr2:191301245C>T		CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.490C>T	2.37:g.191301245C>T	ENSP00000376141:p.Arg164Cys					MFSD6_ENST00000281416.7_Missense_Mutation_p.R164C	p.R164C	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN			3	814	+			164					D3KSZ4|Q86TH2|Q9NXM3	Missense_Mutation	SNP	ENST00000392328.1	37	c.490C>T	CCDS2306.1	5	0.0022893772893772895	0	0.0	0	0.0	0	0.0	5	0.006596306068601583	C	10.75	1.438624	0.25900	0.001362	0.007907	ENSG00000151690	ENST00000392328;ENST00000281416	T;T	0.32515	1.45;1.45	5.39	1.38	0.22167	Major facilitator superfamily domain, general substrate transporter (1);	0.705996	0.14259	N	0.330922	T	0.09069	0.0224	N	0.08118	0	0.30251	N	0.794035	B	0.25772	0.134	B	0.09377	0.004	T	0.14476	-1.0471	10	0.37606	T	0.19	-4.0731	5.6769	0.17753	0.129:0.5235:0.2748:0.0728	.	164	Q6ZSS7	MFSD6_HUMAN	C	164	ENSP00000376141:R164C;ENSP00000281416:R164C	ENSP00000281416:R164C	R	+	1	0	MFSD6	191009490	0.001000	0.12720	0.453000	0.27007	0.877000	0.50540	0.924000	0.28777	0.064000	0.16427	0.650000	0.86243	CGC		0.428	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1			4	78	0	0	0	1	0	4	78					T	191301245	C	T	191301245	3	4	295	1	0	0	0	0	1	0	0	0	9535	884	31	1	492	1	MFSD6	2	191301245	Missense_Mutation	SNP	C	TCGA-EM-A2CO-01A-11D-A19J-08	38910420	191301245	51898128	7	6328											
RTP1	132112	broad.mit.edu	37	chr3	186917353	186917353	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgcaggttccactgctcctGgtgctggcacacctggcagt	12	15	0	0			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr3:186917353G>T	ENST00000312295.4	+	2	317	c.287G>T	c.(286-288)tGg>tTg	p.W96L	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	96					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CACTGCTCCTGGTGCTGGCAC	0.652																																						ENST00000312295.4																			0				breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22						c.(286-288)tGg>tTg		receptor (chemosensory) transporter protein 1							75	64	68					3																	186917353		2203	4300	6503	SO:0001583	missense	132112				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:186917353G>T	BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"Receptor transporter proteins"	28580	protein-coding gene	gene with protein product	"receptor transporting protein 1", "zinc finger, 3CxxC-type 1"	609137	"receptor transporter protein 1"			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.287G>T	3.37:g.186917353G>T	ENSP00000311712:p.Trp96Leu					RP11-208N14.4_ENST00000356133.3_RNA	p.W96L	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	2	317	+	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		96						Missense_Mutation	SNP	ENST00000312295.4	37	c.287G>T	CCDS3287.2	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010435	0.54361	.	.	ENSG00000175077	ENST00000312295	T	0.20332	2.08	5.7	5.7	0.88788	.	0.581138	0.18938	N	0.127035	T	0.14399	0.0348	N	0.15975	0.35	0.32887	D	0.511321	B	0.26147	0.143	B	0.30316	0.114	T	0.14615	-1.0466	10	0.15066	T	0.55	.	15.3379	0.74273	0.0:0.0:1.0:0.0	.	96	P59025	RTP1_HUMAN	L	96	ENSP00000311712:W96L	ENSP00000311712:W96L	W	+	2	0	RTP1	188400047	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.193000	0.42658	2.711000	0.92665	0.561000	0.74099	TGG		0.652	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2	NM_153708		53	50	1	0	4.88482e-21	1	5.63634e-21	53	50					T	186917353	G	T	186917353	3	4	295	1	0	0	0	0	1	0	0	0	13733	1357	47	4	293	4	RTP1	3	186917353	Missense_Mutation	SNP	G	TCGA-EM-A2CO-01A-11D-A19J-08		186917353	11105077	8	6329											
DFNB31	25861	broad.mit.edu	37	chr9	117185766	117185766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaagcgttctaggtcttgcGgggaaatggtgcctctcacc	13	11	3	0	rs79572315	byFrequency	TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr9:117185766G>A	ENST00000362057.3	-	7	1622	c.1454C>T	c.(1453-1455)cCg>cTg	p.P485L	DFNB31_ENST00000374059.3_Missense_Mutation_p.P134L|DFNB31_ENST00000265134.6_Missense_Mutation_p.P102L	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	485					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TAGGTCTTGCGGGGAAATGGT	0.637													G|||	10	0.00199681	0.0015	0.0014	5008	,	,		21137	0		0.007	False		,,,				2504	0					ENST00000362057.3																			0				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1453-1455)cCg>cTg		deafness, autosomal recessive 31		G	LEU/PRO,LEU/PRO,LEU/PRO	4,4402	8.1+/-20.4	0,4,2199	71	69	70		305,1454,1454	4.4	0.9	9	dbSNP_131	70	32,8568	22.2+/-67.0	0,32,4268	yes	missense,missense,missense	DFNB31	NM_001083885.2,NM_001173425.1,NM_015404.3	98,98,98	0,36,6467	AA,AG,GG		0.3721,0.0908,0.2768	probably-damaging,probably-damaging,probably-damaging	102/525,485/907,485/908	117185766	36,12970	2203	4300	6503	SO:0001583	missense	25861				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		g.chr9:117185766G>A	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"whirlin"	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.1454C>T	9.37:g.117185766G>A	ENSP00000354623:p.Pro485Leu					DFNB31_ENST00000265134.6_Missense_Mutation_p.P102L|DFNB31_ENST00000374059.3_Missense_Mutation_p.P134L	p.P485L	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN			7	1622	-			485					A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	ENST00000362057.3	37	c.1454C>T	CCDS6806.1	7	0.003205128205128205	0	0.0	0	0.0	0	0.0	7	0.009234828496042216	G	28.4	4.916120	0.92178	9.08E-4	0.003721	ENSG00000095397	ENST00000265134;ENST00000374059;ENST00000362057	T;T;T	0.10763	3.73;3.71;2.84	5.3	4.41	0.53225	.	0.058329	0.64402	N	0.000001	T	0.23806	0.0576	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.997	D;D;D	0.74023	0.982;0.94;0.974	T	0.01715	-1.1289	10	0.41790	T	0.15	-31.7478	13.7595	0.62956	0.0739:0.0:0.9261:0.0	.	485;485;134	B9EGE6;Q9P202;Q9P202-4	.;WHRN_HUMAN;.	L	102;134;485	ENSP00000265134:P102L;ENSP00000363172:P134L;ENSP00000354623:P485L	ENSP00000265134:P102L	P	-	2	0	DFNB31	116225587	1.000000	0.71417	0.945000	0.38365	0.994000	0.84299	8.960000	0.93117	1.247000	0.43917	0.555000	0.69702	CCG		0.637	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		4	74	0	0	0	1	0	4	74					A	117185766	G	A	117185766	3	1	295	1	0	0	0	0	1	0	0	0	4455	1116	39	1	1293	1	DFNB31	9	117185766	Missense_Mutation	SNP	G	TCGA-EM-A2CO-01A-11D-A19J-08		117185766	24027665	9	6330											
HELLS	3070	broad.mit.edu	37	chr10	96361328	96361328	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attaaagagaagatggggatAttcaagatattagaaaattc	9	2	1	4			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr10:96361328A>G	ENST00000348459.5	+	22	2571	c.2466A>G	c.(2464-2466)atA>atG	p.I822M	HELLS_ENST00000371332.4_Missense_Mutation_p.I868M|HELLS_ENST00000239026.6_3'UTR|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000394045.1_Missense_Mutation_p.I724M	NM_018063.3	NP_060533.2			helicase, lymphoid-specific											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		AGATGGGGATATTCAAGATAT	0.303																																						ENST00000348459.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(2464-2466)atA>atG		helicase, lymphoid-specific							70	76	74					10																	96361328		2203	4297	6500	SO:0001583	missense	3070				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity	g.chr10:96361328A>G	AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6", "proliferation-associated SNF2-like protein"	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.2466A>G	10.37:g.96361328A>G	ENSP00000239027:p.Ile822Met					HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000371332.4_Missense_Mutation_p.I868M|HELLS_ENST00000239026.6_3'UTR|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000394045.1_Missense_Mutation_p.I724M	p.I822M	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN		all cancers(201;2.13e-05)	22	2571	+		Colorectal(252;0.0429)	822						Missense_Mutation	SNP	ENST00000348459.5	37	c.2466A>G	CCDS7434.1	.	.	.	.	.	.	.	.	.	.	A	13.99	2.402439	0.42613	.	.	ENSG00000119969	ENST00000348459;ENST00000394045;ENST00000371332;ENST00000371327	D;D;D;D	0.89939	-2.44;-2.07;-2.59;-1.72	5.85	3.49	0.39957	.	0.176741	0.47852	D	0.000207	T	0.79488	0.4454	N	0.03608	-0.345	0.80722	D	1	P;B;D;B;P	0.64830	0.807;0.057;0.994;0.067;0.901	B;B;P;B;B	0.53861	0.358;0.024;0.736;0.203;0.277	T	0.75952	-0.3136	10	0.41790	T	0.15	-12.3166	4.5068	0.11893	0.4997:0.1058:0.0:0.3945	.	806;793;692;724;822	Q9NRZ9-2;Q6I7N8;Q9NRZ9-6;Q9NRZ9-5;Q9NRZ9	.;.;.;.;HELLS_HUMAN	M	822;724;868;259	ENSP00000239027:I822M;ENSP00000377609:I724M;ENSP00000360383:I868M;ENSP00000360378:I259M	ENSP00000239027:I822M	I	+	3	3	HELLS	96351318	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.346000	0.33964	0.455000	0.26910	0.460000	0.39030	ATA		0.303	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049475.1	NM_018063		9	50	0	0	0	1	0	9	50					G	96361328	A	G	96361328	3	3	295	1	0	0	0	0	1	0	0	0	7046	439	16	3	2552	3	HELLS	10	96361328	Missense_Mutation	SNP	A	TCGA-EM-A2CO-01A-11D-A19J-08		96361328	39173419	10	6331											
MUC5B	727897	broad.mit.edu	37	chr11	1267146	1267146	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggatccacggccatcccGtcctccaccccgggaacagc	9	19	0	0	rs563936822	byFrequency	TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr11:1267146G>A	ENST00000529681.1	+	31	9094	c.9036G>A	c.(9034-9036)ccG>ccA	p.P3012P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.P3015P	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3012	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGGCCATCCCGTCCTCCACCC	0.642													G|||	4	0.000798722	0	0	5008	,	,		16823	0		0.003	False		,,,				2504	0.001					ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(9043-9045)ccG>ccA		mucin 5B, oligomeric mucus/gel-forming							139	168	158					11																	1267146		2150	4233	6383	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1267146G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.9036G>A	11.37:g.1267146G>A						MUC5B_ENST00000529681.1_Silent_p.P3012P|RP11-532E4.2_ENST00000532061.2_RNA	p.P3015P			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	9103	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3012	Missing (in Ref. 6; AAB61398).		17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.9045G>A	CCDS44515.2																																																																																				0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		31	82	0	0	0	1	0	31	82					A	1267146	G	A	1267146	2	1	295	1	0	0	0	0	0	0	0	1	9979	1132	40	1		1	MUC5B	11	1267146	Silent	SNP	G	TCGA-EM-A2CO-01A-11D-A19J-08		1267146	133739370	11	6332											
SLC25A45	283130	broad.mit.edu	37	chr11	65144072	65144072	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catctgcatccgggacttgaTcatgtctaagggcgtggctg	13	10	3	1			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr11:65144072T>C	ENST00000527174.1	-	6	728	c.673A>G	c.(673-675)Atc>Gtc	p.I225V	SLC25A45_ENST00000360662.3_Missense_Mutation_p.I201V|SLC25A45_ENST00000294187.6_Missense_Mutation_p.I183V|SLC25A45_ENST00000534028.1_Missense_Mutation_p.I201V|SLC25A45_ENST00000417511.2_Missense_Mutation_p.I183V|SLC25A45_ENST00000398802.1_Missense_Mutation_p.I225V|SLC25A45_ENST00000526432.1_Missense_Mutation_p.I163V|RP11-867O8.5_ENST00000533886.1_RNA|SLC25A45_ENST00000377152.2_Missense_Mutation_p.I121V			Q8N413	S2545_HUMAN	solute carrier family 25, member 45	225					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						CGGGACTTGATCATGTCTAAG	0.617																																						ENST00000417511.2																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						c.(547-549)Atc>Gtc		solute carrier family 25, member 45							83	87	86					11																	65144072		2149	4252	6401	SO:0001583	missense	283130				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr11:65144072T>C	BC041100	CCDS41670.1, CCDS41671.1, CCDS60850.1	11q13.1	2013-05-22			ENSG00000162241	ENSG00000162241		"Solute carriers"	27442	protein-coding gene	gene with protein product		610825				16949250	Standard	XM_006718507		Approved		uc001odr.1	Q8N413	OTTHUMG00000166255	ENST00000527174.1:c.673A>G	11.37:g.65144072T>C	ENSP00000435489:p.Ile225Val					SLC25A45_ENST00000527174.1_Missense_Mutation_p.I225V|SLC25A45_ENST00000526432.1_Missense_Mutation_p.I163V|SLC25A45_ENST00000360662.3_Missense_Mutation_p.I201V|SLC25A45_ENST00000294187.6_Missense_Mutation_p.I183V|SLC25A45_ENST00000377152.2_Missense_Mutation_p.I121V|SLC25A45_ENST00000398802.1_Missense_Mutation_p.I225V|SLC25A45_ENST00000534028.1_Missense_Mutation_p.I201V	p.I183V	NM_001278251.1	NP_001265180.1	Q8N413	S2545_HUMAN			10	1681	-			225					Q6PL49|Q8IW29	Missense_Mutation	SNP	ENST00000527174.1	37	c.547A>G	CCDS41670.1	.	.	.	.	.	.	.	.	.	.	T	6.287	0.421074	0.11928	.	.	ENSG00000162241	ENST00000527174;ENST00000534028;ENST00000398802;ENST00000360662;ENST00000377152;ENST00000294187;ENST00000417511;ENST00000526432	T;T;T;T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88	4.74	-0.201	0.13212	Mitochondrial carrier domain (2);	.	.	.	.	T	0.43122	0.1233	N	0.04203	-0.255	0.34764	D	0.733075	B;B;B	0.19935	0.007;0.007;0.04	B;B;B	0.26969	0.012;0.045;0.075	T	0.47586	-0.9106	9	0.02654	T	1	-0.0064	4.9452	0.13985	0.0:0.2641:0.1529:0.583	.	163;201;225	E9PJQ3;Q8N413-4;Q8N413	.;.;S2545_HUMAN	V	225;201;225;201;121;183;183;163	ENSP00000435489:I225V;ENSP00000431769:I201V;ENSP00000381782:I225V;ENSP00000353879:I201V;ENSP00000366357:I121V;ENSP00000294187:I183V;ENSP00000407530:I183V;ENSP00000435547:I163V	ENSP00000294187:I183V	I	-	1	0	SLC25A45	64900648	0.323000	0.24643	1.000000	0.80357	0.909000	0.53808	-0.298000	0.08265	0.070000	0.16634	0.459000	0.35465	ATC		0.617	SLC25A45-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388744.3	NM_182556		29	33	0	0	0	1	0	29	33					C	65144072	T	C	65144072	3	2	295	1	0	0	0	0	1	0	0	0	14510	1435	50	3	197	3	SLC25A45	11	65144072	Missense_Mutation	SNP	T	TCGA-EM-A2CO-01A-11D-A19J-08	63876926	65144072	69862444	12	6333											
PIH1D2	120379	broad.mit.edu	37	chr11	111942472	111942472	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttgataaaaagtatttttTcttttggtttctggaaagca	9	3	2	1			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr11:111942472T>C	ENST00000280350.4	-	3	410	c.188A>G	c.(187-189)gAa>gGa	p.E63G	PIH1D2_ENST00000521853.2_5'UTR|C11orf57_ENST00000420986.2_5'Flank|PIH1D2_ENST00000530641.1_Missense_Mutation_p.E63G|PIH1D2_ENST00000532211.1_Missense_Mutation_p.E63G|C11orf57_ENST00000530104.1_5'Flank|C11orf57_ENST00000393047.3_5'Flank|C11orf57_ENST00000532163.1_5'Flank|C11orf57_ENST00000280352.9_5'Flank|PIH1D2_ENST00000528775.1_Missense_Mutation_p.E63G|PIH1D2_ENST00000431456.1_Missense_Mutation_p.E63G	NM_138789.3	NP_620144.1	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	63										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		AAGTATTTTTTCTTTTGGTTT	0.428																																						ENST00000530641.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(187-189)gAa>gGa		PIH1 domain containing 2							85	88	87					11																	111942472		2201	4297	6498	SO:0001583	missense	120379							g.chr11:111942472T>C	BC019238	CCDS8355.1, CCDS44730.1	11q23.1	2007-01-31			ENSG00000150773	ENSG00000150773			25210	protein-coding gene	gene with protein product						12477932	Standard	NM_138789		Approved		uc001pmp.4	Q8WWB5	OTTHUMG00000166925	ENST00000280350.4:c.188A>G	11.37:g.111942472T>C	ENSP00000280350:p.Glu63Gly					PIH1D2_ENST00000528775.1_Missense_Mutation_p.E63G|PIH1D2_ENST00000431456.1_Missense_Mutation_p.E63G|PIH1D2_ENST00000521853.2_5'UTR|PIH1D2_ENST00000280350.4_Missense_Mutation_p.E63G|PIH1D2_ENST00000532211.1_Missense_Mutation_p.E63G	p.E63G			Q8WWB5	PIHD2_HUMAN		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)	3	513	-		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	63					B4DU48|E9PD82	Missense_Mutation	SNP	ENST00000280350.4	37	c.188A>G	CCDS8355.1	.	.	.	.	.	.	.	.	.	.	T	16.16	3.045342	0.55110	.	.	ENSG00000150773	ENST00000528775;ENST00000431456;ENST00000532211;ENST00000280350;ENST00000530641;ENST00000525744	T;T;T;T;T;T	0.50277	0.77;0.77;0.81;0.81;0.78;0.75	4.97	3.84	0.44239	.	0.475662	0.24838	N	0.035185	T	0.46580	0.1400	M	0.63428	1.95	0.40187	D	0.977362	P;P;B	0.50528	0.936;0.936;0.075	P;P;B	0.50860	0.516;0.652;0.055	T	0.49093	-0.8975	10	0.09590	T	0.72	-16.2345	6.1949	0.20544	0.0:0.1921:0.0:0.8079	.	63;63;63	B4DU48;E9PD82;Q8WWB5	.;.;PIHD2_HUMAN	G	63;63;63;63;63;28	ENSP00000434275:E63G;ENSP00000388209:E63G;ENSP00000431841:E63G;ENSP00000280350:E63G;ENSP00000431147:E63G;ENSP00000433297:E28G	ENSP00000280350:E63G	E	-	2	0	PIH1D2	111447682	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.904000	0.39868	0.931000	0.37242	0.459000	0.35465	GAA		0.428	PIH1D2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391916.1	NM_138789		10	23	0	0	0	1	0	10	23					C	111942472	T	C	111942472	3	2	295	1	0	0	0	0	1	0	0	0	11907	1783	62	3	833	3	PIH1D2	11	111942472	Missense_Mutation	SNP	T	TCGA-EM-A2CO-01A-11D-A19J-08	46798400	111942472	23064044	13	6334											
PCID2	55795	broad.mit.edu	37	chr13	113854783	113854783	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaggatgtttaaaagacacCaactctgcacaagatgctcc	8	10	1	3			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr13:113854783C>A	ENST00000337344.4	-	2	160	c.84G>T	c.(82-84)ttG>ttT	p.L28F	PCID2_ENST00000246505.5_Missense_Mutation_p.L28F|PCID2_ENST00000375479.2_Missense_Mutation_p.L28F|PCID2_ENST00000375457.2_Missense_Mutation_p.L26F|PCID2_ENST00000375459.1_Missense_Mutation_p.L26F|PCID2_ENST00000375477.1_Missense_Mutation_p.L28F	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	28					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			TAAAAGACACCAACTCTGCAC	0.423																																						ENST00000375457.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20						c.(76-78)ttG>ttT		PCI domain containing 2							127	127	127					13																	113854783		2203	4300	6503	SO:0001583	missense	55795				negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding	g.chr13:113854783C>A	AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.84G>T	13.37:g.113854783C>A	ENSP00000337405:p.Leu28Phe					PCID2_ENST00000246505.5_Missense_Mutation_p.L28F|PCID2_ENST00000351317.3_Missense_Mutation_p.L28F|PCID2_ENST00000375477.1_Missense_Mutation_p.L28F|PCID2_ENST00000375459.1_Missense_Mutation_p.L26F|PCID2_ENST00000375479.2_Missense_Mutation_p.L28F|PCID2_ENST00000337344.4_Missense_Mutation_p.L28F	p.L26F	NM_001258213.1	NP_001245142.1	Q5JVF3	PCID2_HUMAN	all cancers(43;0.104)		2	674	-	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	28					A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Missense_Mutation	SNP	ENST00000337344.4	37	c.78G>T	CCDS9532.2	.	.	.	.	.	.	.	.	.	.	C	13.50	2.256411	0.39896	.	.	ENSG00000126226	ENST00000337344;ENST00000375479;ENST00000375477;ENST00000246505;ENST00000375459;ENST00000375457;ENST00000375462;ENST00000246506;ENST00000351317	.	.	.	5.45	4.6	0.57074	.	0.156062	0.43747	D	0.000534	T	0.49779	0.1577	L	0.42581	1.335	0.51767	D	0.999937	B;B	0.26400	0.148;0.003	B;B	0.36335	0.222;0.01	T	0.35724	-0.9777	9	0.14656	T	0.56	-4.0257	9.5043	0.39037	0.0:0.7809:0.1443:0.0748	.	28;28	Q5JVF3-4;Q5JVF3	.;PCID2_HUMAN	F	28;28;28;28;26;26;28;26;28	.	ENSP00000246505:L28F	L	-	3	2	PCID2	112902784	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	1.150000	0.31639	1.280000	0.44463	0.655000	0.94253	TTG		0.423	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045897.1	NM_018386		5	63	1	0	0.00198382	1	0.00198382	5	63					A	113854783	C	A	113854783	3	1	295	1	0	0	0	0	1	0	0	0	11579	593	21	4	1167	4	PCID2	13	113854783	Missense_Mutation	SNP	C	TCGA-EM-A2CO-01A-11D-A19J-08		113854783	1315095	14	6335											
AXIN1	8312	broad.mit.edu	37	chr16	354424	354424	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggctccacgcggacctccttCggcacccggtacgtgcgctg	13	17	0	0	rs201968411		TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr16:354424C>T	ENST00000262320.3	-	5	1505	c.1134G>A	c.(1132-1134)ccG>ccA	p.P378P	AXIN1_ENST00000354866.3_Silent_p.P378P|AXIN1_ENST00000481769.1_5'UTR	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	378	Interaction with GSK3B. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)	p.?(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GGACCTCCTTCGGCACCCGGT	0.627																																						ENST00000262320.3																			1	Unknown(1)	p.?(1)	liver(1)	biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221						c.(1132-1134)ccG>ccA		axin 1							29	28	28					16																	354424		2202	4294	6496	SO:0001819	synonymous_variant	8312				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr16:354424C>T	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	903	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 49"	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.1134G>A	16.37:g.354424C>T						AXIN1_ENST00000481769.1_5'UTR|AXIN1_ENST00000354866.3_Silent_p.P378P	p.P378P	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN			5	1505	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	378			Interaction with GSK3B (By similarity).		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Silent	SNP	ENST00000262320.3	37	c.1134G>A	CCDS10405.1																																																																																				0.627	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			3	37	0	0	0	1	0	3	37					T	354424	C	T	354424	2	4	295	1	0	0	0	0	0	0	0	1	1236	871	31	1		1	AXIN1	16	354424	Silent	SNP	C	TCGA-EM-A2CO-01A-11D-A19J-08		354424	90000329	15	6336											
AMAC1	146861	broad.mit.edu	37	chr17	33521307	33521307	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagtcaggctggttgaaaTaggggtgactgccagccatc	15	8	1	2			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr17:33521307T>C	ENST00000297307.5	-	1	105	c.20A>G	c.(19-21)tAt>tGt	p.Y7C	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	7						integral component of membrane (GO:0016021)											CTGGTTGAAATAGGGGTGACT	0.632																																						ENST00000297307.5																			0											c.(19-21)tAt>tGt		solute carrier family 35, member G3							84	80	81					17																	33521307		2203	4300	6503	SO:0001583	missense	146861					integral to membrane		g.chr17:33521307T>C	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"Solute carriers"	26848	protein-coding gene	gene with protein product			"transmembrane protein 21A", "acyl-malonyl condensing enzyme 1"	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.20A>G	17.37:g.33521307T>C	ENSP00000297307:p.Tyr7Cys						p.Y7C	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	105	-			7					B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.20A>G	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	T	8.088	0.773909	0.16051	.	.	ENSG00000164729	ENST00000297307	T	0.35605	1.3	.	.	.	.	0.181691	0.26780	N	0.022523	T	0.37705	0.1013	N	0.24115	0.695	0.20975	N	0.999819	D	0.76494	0.999	D	0.80764	0.994	T	0.14227	-1.0480	8	0.52906	T	0.07	-6.2298	.	.	.	.	7	Q8N808	S35G3_HUMAN	C	7	ENSP00000297307:Y7C	ENSP00000297307:Y7C	Y	-	2	0	SLC35G3	30545420	0.233000	0.23772	0.360000	0.25837	0.366000	0.29705	0.077000	0.14738	0.056000	0.16144	0.055000	0.15244	TAT		0.632	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		3	45	0	0	0	1	0	3	45					C	33521307	T	C	33521307	3	2	295	1	0	0	0	0	1	0	0	0	559	1406	49	3	1000	3	AMAC1	17	33521307	Missense_Mutation	SNP	T	TCGA-EM-A2CO-01A-11D-A19J-08		33521307	47673903	16	6337											
WIPF2	147179	broad.mit.edu	37	chr17	38420969	38420969	+	Frame_Shift_Del	DEL	C	C	-													cctctgcccctcccccaccaCccccagggcggcgtgccaac							TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr17:38420969delC	ENST00000323571.4	+	5	781	c.541delC	c.(541-543)cccfs	p.P182fs	WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000585043.1_Frame_Shift_Del_p.P182fs|WIPF2_ENST00000583130.1_Frame_Shift_Del_p.P182fs|WIPF2_ENST00000494757.1_3'UTR	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	182	Poly-Pro.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						TCCCCCACCACCCCCAGGGCG	0.647										HNSCC(43;0.11)																												ENST00000323571.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						c.(541-543)ccfs		WAS/WASL interacting protein family, member 2							51	52	52					17																	38420969		2203	4300	6503	SO:0001589	frameshift_variant	147179					cytoplasm|cytoskeleton	actin binding	g.chr17:38420969delC	BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.541delC	17.37:g.38420969delC	ENSP00000320924:p.Pro182fs	HNSCC(43;0.11)				WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000583130.1_Frame_Shift_Del_p.P182fs|WIPF2_ENST00000585043.1_Frame_Shift_Del_p.P182fs|WIPF2_ENST00000536600.1_Intron	p.P182fs	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN			5	781	+			182			Poly-Pro.		A8K0L3|Q658J8|Q71RE1|Q8TE44	Frame_Shift_Del	DEL	ENST00000323571.4	37	c.541delC	CCDS11364.1																																																																																				0.647	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	NM_133264		10	62						10	62	---	---	---	---	-	38420969	C	-	38420969	7	5	295	1	0	1	0	1	0	0	0	0	17365	507	18	0	555	0	WIPF2	17	38420969	Frame_Shift_Del	DEL	C	TCGA-EM-A2CO-01A-11D-A19J-08	4899662	38420969	42774241	17	6338											
ZNF407	55628	broad.mit.edu	37	chr18	72775591	72775592	+	Frame_Shift_Ins	INS	-	-	T													acaggtgaccaagcaggagaINSttttaaacctctcggaggct							TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr18:72775591_72775592insT	ENST00000299687.5	+	8	5914_5915	c.5914_5915insT	c.(5914-5916)attfs	p.I1972fs		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1972					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CAAGCAGGAGATTTTAAACCTC	0.614																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(5914-5916)tttfs		zinc finger protein 407																																				SO:0001589	frameshift_variant	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72775591_72775592insT	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.5918dupT	18.37:g.72775595_72775595dupT	ENSP00000299687:p.Ile1972fs						p.F1972fs	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	8	5914_5915	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	1972					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Frame_Shift_Ins	INS	ENST00000299687.5	37	c.5914_5915insT	CCDS45885.1																																																																																				0.614	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		6	7						6	7	---	---	---	---	T	72775592	-	T	72775591	7	5	295	1	0	1	1	0	0	0	0	0	17884	333	12	0	6074	0	ZNF407	18	72775591	Frame_Shift_Ins	INS	-	TCGA-EM-A2CO-01A-11D-A19J-08		72775591	5301657	18	6339											
KCNJ14	3770	broad.mit.edu	37	chr19	48967816	48967816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caccggtctgcagtgctaagGagctggatgaacgggcagag	16	9	1	2	rs144271715		TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr19:48967816G>A	ENST00000391884.1	+	2	1569	c.1093G>A	c.(1093-1095)Gag>Aag	p.E365K	CTC-273B12.5_ENST00000593476.1_RNA|CTC-273B12.5_ENST00000600650.1_RNA|CTC-273B12.5_ENST00000600529.1_RNA|CTC-273B12.7_ENST00000595676.1_5'Flank|CTC-273B12.6_ENST00000597574.1_lincRNA|CTC-273B12.5_ENST00000596497.1_RNA|KCNJ14_ENST00000342291.2_Missense_Mutation_p.E365K			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	365					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	CAGTGCTAAGGAGCTGGATGA	0.547													G|||	1	0.000199681	0	0.0014	5008	,	,		21567	0		0	False		,,,				2504	0				NSCLC(148;170 3504 35216)	ENST00000391884.1																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10						c.(1093-1095)Gag>Aag		potassium inwardly-rectifying channel, subfamily J, member 14		G	LYS/GLU,LYS/GLU	0,4406		0,0,2203	65	63	64		1093,1093	5.2	1.0	19	dbSNP_134	64	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	KCNJ14	NM_013348.2,NM_170720.1	56,56	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging,probably-damaging	365/437,365/437	48967816	3,13003	2203	4300	6503	SO:0001583	missense	3770					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:48967816G>A	BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.1093G>A	19.37:g.48967816G>A	ENSP00000375756:p.Glu365Lys					KCNJ14_ENST00000342291.2_Missense_Mutation_p.E365K	p.E365K			Q9UNX9	IRK14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	2	1569	+		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	365						Missense_Mutation	SNP	ENST00000391884.1	37	c.1093G>A	CCDS12721.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	34	5.372467	0.95923	0.0	3.49E-4	ENSG00000182324	ENST00000342291;ENST00000391884	D;D	0.94184	-3.37;-3.37	5.24	5.24	0.73138	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.135490	0.52532	D	0.000075	D	0.94732	0.8300	M	0.74546	2.27	0.58432	D	0.999993	P	0.47677	0.899	P	0.49637	0.617	D	0.94894	0.8050	10	0.62326	D	0.03	.	17.1398	0.86749	0.0:0.0:1.0:0.0	.	365	Q9UNX9	IRK14_HUMAN	K	365	ENSP00000341479:E365K;ENSP00000375756:E365K	ENSP00000341479:E365K	E	+	1	0	KCNJ14	53659628	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.837000	0.97791	0.655000	0.94253	GAG		0.547	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466127.1	NM_013348		3	41	0	0	0	1	0	3	41					A	48967816	G	A	48967816	3	1	295	1	0	0	0	0	1	0	0	0	8048	1175	41	2	1099	2	KCNJ14	19	48967816	Missense_Mutation	SNP	G	TCGA-EM-A2CO-01A-11D-A19J-08		48967816	10161167	19	6340											
CCDC155	147872	broad.mit.edu	37	chr19	49920492	49920492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtcaggaggagggcctggGgccagctctgcctgccccca	15	15	2	0			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr19:49920492G>A	ENST00000447857.3	+	19	1721	c.1516G>A	c.(1516-1518)Ggc>Agc	p.G506S		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	506						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						GAGGGCCTGGGGCCAGCTCTG	0.652																																						ENST00000447857.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						c.(1516-1518)Ggc>Agc		coiled-coil domain containing 155							23	27	26					19																	49920492		1920	4112	6032	SO:0001583	missense	147872					integral to membrane	calcium ion binding	g.chr19:49920492G>A		CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.1516G>A	19.37:g.49920492G>A	ENSP00000404220:p.Gly506Ser						p.G506S	NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN			19	1721	+			506					Q96MC3	Missense_Mutation	SNP	ENST00000447857.3	37	c.1516G>A	CCDS46140.1	.	.	.	.	.	.	.	.	.	.	g	10.57	1.386550	0.25031	.	.	ENSG00000161609	ENST00000447857	T	0.29397	1.57	3.89	1.03	0.20045	.	0.679950	0.12798	N	0.438267	T	0.19765	0.0475	L	0.36672	1.1	0.09310	N	1	B;B	0.14012	0.009;0.009	B;B	0.08055	0.003;0.003	T	0.21211	-1.0252	10	0.31617	T	0.26	-6.5932	4.5176	0.11943	0.1808:0.2054:0.6138:0.0	.	506;506	C9JGW3;Q8N6L0	.;CC155_HUMAN	S	506	ENSP00000404220:G506S	ENSP00000404220:G506S	G	+	1	0	CCDC155	54612304	0.110000	0.22057	0.071000	0.20095	0.795000	0.44927	0.055000	0.14229	0.160000	0.19432	0.450000	0.29827	GGC		0.652	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465436.2	NM_144688		7	15	0	0	0	1	0	7	15					A	49920492	G	A	49920492	3	1	295	1	0	0	0	0	1	0	0	0	2788	1232	43	2	1586	2	CCDC155	19	49920492	Missense_Mutation	SNP	G	TCGA-EM-A2CO-01A-11D-A19J-08	952676	49920492	9208491	20	6341											
ANKRD5	63926	broad.mit.edu	37	chr20	10023795	10023795	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgttttactgcattttaccGactaagcggcattatcgctg	8	9	0	0			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr20:10023795G>A	ENST00000378380.3	+	3	701	c.372G>A	c.(370-372)ccG>ccA	p.P124P	SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Silent_p.P124P|ANKEF1_ENST00000488991.1_3'UTR	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	124							calcium ion binding (GO:0005509)										GCATTTTACCGACTAAGCGGC	0.378																																						ENST00000378380.3																			0											c.(370-372)ccG>ccA		ankyrin repeat and EF-hand domain containing 1							140	133	135					20																	10023795		2203	4300	6503	SO:0001819	synonymous_variant	63926							g.chr20:10023795G>A	AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"EF-hand domain containing", "Ankyrin repeat domain containing"	15803	protein-coding gene	gene with protein product			"ankyrin repeat domain 5"	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.372G>A	20.37:g.10023795G>A						ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000378392.1_Silent_p.P124P|SNAP25-AS1_ENST00000421143.2_RNA	p.P124P	NM_198798.1	NP_942093.1					3	701	+								B3KUQ0|Q9H6Y9	Silent	SNP	ENST00000378380.3	37	c.372G>A	CCDS13108.1																																																																																				0.378	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096		23	44	0	0	0	1	0	23	44					A	10023795	G	A	10023795	2	1	295	1	0	0	0	0	0	0	0	1	676	1045	37	1		1	ANKRD5	20	10023795	Silent	SNP	G	TCGA-EM-A2CO-01A-11D-A19J-08		10023795	53001725	21	6342											
TUBB1	81027	broad.mit.edu	37	chr20	57597953	57597953	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacttggctgggagcgaccgCggggcctcggccttgcagct	17	13	0	0	rs150453159	byFrequency	TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr20:57597953C>T	ENST00000217133.1	+	2	380	c.111C>T	c.(109-111)cgC>cgT	p.R37R		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	37					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GGAGCGACCGCGGGGCCTCGG	0.597													C|||	2	0.000399361	0	0	5008	,	,		18152	0		0.002	False		,,,				2504	0					ENST00000217133.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16						c.(109-111)cgC>cgT		tubulin, beta 1 class VI	Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	C		0,4406		0,0,2203	63	58	59		111	-2.9	0.0	20	dbSNP_134	59	14,8586	10.5+/-38.8	0,14,4286	no	coding-synonymous	TUBB1	NM_030773.3		0,14,6489	TT,TC,CC		0.1628,0.0,0.1076		37/452	57597953	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	81027				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity	g.chr20:57597953C>T	AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"Tubulins"	16257	protein-coding gene	gene with protein product	"class VI beta-tubulin"	612901	"tubulin, beta 1"				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.111C>T	20.37:g.57597953C>T							p.R37R	NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	Colorectal(105;0.109)		2	380	+	all_lung(29;0.00711)		37						Silent	SNP	ENST00000217133.1	37	c.111C>T	CCDS13475.1																																																																																				0.597	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1	NM_030773		3	46	0	0	0	1	0	3	46					T	57597953	C	T	57597953	2	4	295	1	0	0	0	0	0	0	0	1	16750	755	27	1		1	TUBB1	20	57597953	Silent	SNP	C	TCGA-EM-A2CO-01A-11D-A19J-08	47574158	57597953	5427567	22	6343											
FAM83F	113828	broad.mit.edu	37	chr22	40417409	40417409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgccatctccgaggaggtgGacttgtaccggcagctgagc	14	12	1	1			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr22:40417409G>A	ENST00000333407.6	+	4	989	c.895G>A	c.(895-897)Gac>Aac	p.D299N	FAM83F_ENST00000473717.1_Missense_Mutation_p.D131N	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	299										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						CGAGGAGGTGGACTTGTACCG	0.592																																						ENST00000333407.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						c.(895-897)Gac>Aac		family with sequence similarity 83, member F							109	112	111					22																	40417409		2203	4300	6503	SO:0001583	missense	113828							g.chr22:40417409G>A		CCDS14000.2	22q13.1	2006-03-22			ENSG00000133477	ENSG00000133477			25148	protein-coding gene	gene with protein product						12477932	Standard	NM_138435		Approved		uc003ayk.1	Q8NEG4	OTTHUMG00000150688	ENST00000333407.6:c.895G>A	22.37:g.40417409G>A	ENSP00000330432:p.Asp299Asn					FAM83F_ENST00000473717.1_3'UTR	p.D299N	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN			4	989	+			299					Q96FD6	Missense_Mutation	SNP	ENST00000333407.6	37	c.895G>A	CCDS14000.2	.	.	.	.	.	.	.	.	.	.	G	4.159	0.027914	0.08054	.	.	ENSG00000133477	ENST00000333407	T	0.14144	2.53	4.79	1.22	0.21188	.	0.216541	0.47093	N	0.000260	T	0.03959	0.0111	N	0.01874	-0.695	0.26090	N	0.980963	B	0.12013	0.005	B	0.12156	0.007	T	0.44832	-0.9302	10	0.09084	T	0.74	-14.1409	8.8252	0.35050	0.7251:0.0:0.2749:0.0	.	299	Q8NEG4	FA83F_HUMAN	N	299	ENSP00000330432:D299N	ENSP00000330432:D299N	D	+	1	0	FAM83F	38747355	1.000000	0.71417	0.995000	0.50966	0.896000	0.52359	0.823000	0.27366	0.039000	0.15632	0.561000	0.74099	GAC		0.592	FAM83F-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319624.3	NM_138435		13	116	0	0	0	1	0	13	116					A	40417409	G	A	40417409	3	1	295	1	0	0	0	0	1	0	0	0	5638	1174	41	2	909	2	FAM83F	22	40417409	Missense_Mutation	SNP	G	TCGA-EM-A2CO-01A-11D-A19J-08		40417409	10887157	23	6344											
STK36	27148	broad.mit.edu	37	chr2	219561866	219561866	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccccgaggaggcatctgcAcaggaaggggagctttcgct	14	12	1	0			TCGA-EM-A2CP-01A-11D-A17V-08	TCGA-EM-A2CP-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8cd6882-be27-4742-bc63-3227d31bf704	e6101d92-5616-476e-8b38-8b6847ae3d48	g.chr2:219561866A>G	ENST00000295709.3	+	23	2970	c.2691A>G	c.(2689-2691)gcA>gcG	p.A897A	STK36_ENST00000440309.1_Silent_p.A897A|STK36_ENST00000392105.3_Silent_p.A876A|STK36_ENST00000392106.2_Silent_p.A876A	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)		AGGCATCTGCACAGGAAGGGG	0.537																																						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.(2689-2691)gcA>gcG		serine/threonine kinase 36							122	129	126					2																	219561866		2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:219561866A>G	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.2691A>G	2.37:g.219561866A>G						STK36_ENST00000440309.1_Silent_p.A897A|STK36_ENST00000392105.3_Silent_p.A876A|STK36_ENST00000392106.2_Silent_p.A876A	p.A897A	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)	23	2970	+		Renal(207;0.0915)	897						Silent	SNP	ENST00000295709.3	37	c.2691A>G	CCDS2421.1	.	.	.	.	.	.	.	.	.	.	A	9.591	1.126267	0.20959	.	.	ENSG00000163482	ENST00000431040	.	.	.	5.12	-3.92	0.04155	.	.	.	.	.	T	0.28764	0.0713	.	.	.	0.20975	N	0.999812	.	.	.	.	.	.	T	0.36601	-0.9741	4	.	.	.	8.2973	8.025	0.30431	0.3516:0.4546:0.1938:0.0	.	.	.	.	R	90	.	.	H	+	2	0	STK36	219270110	0.000000	0.05858	0.165000	0.22776	0.955000	0.61496	-0.576000	0.05854	-0.455000	0.07054	0.533000	0.62120	CAC		0.537	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2			5	235	0	0	0	3.59834e-05	0	5	235					G	219561866	A	G	219561866	2	3	296	1	0	0	0	0	0	0	0	1	15301	146	6	3		3	STK36	2	219561866	Silent	SNP	A	TCGA-EM-A2CP-01A-11D-A17V-08		219561866	23637507	1	6345											
PRUNE2	158471	broad.mit.edu	37	chr9	79322343	79322343	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaaaaatgtaggagttttgCgatcaaagctcttttcaaac	7	7	3	0	rs368679517		TCGA-EM-A2CP-01A-11D-A17V-08	TCGA-EM-A2CP-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8cd6882-be27-4742-bc63-3227d31bf704	e6101d92-5616-476e-8b38-8b6847ae3d48	g.chr9:79322343C>T	ENST00000376718.3	-	8	4970	c.4847G>A	c.(4846-4848)cGc>cAc	p.R1616H	PRUNE2_ENST00000428286.1_Missense_Mutation_p.R1257H	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1616					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGGAGTTTTGCGATCAAAGCT	0.353																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(3769-3771)cGc>cAc		prune homolog 2 (Drosophila)		C	HIS/ARG	1,3135		0,1,1567	65	59	61		4847	-5.6	0.0	9		61	0,7164		0,0,3582	no	missense	PRUNE2	NM_015225.2	29	0,1,5149	TT,TC,CC		0.0,0.0319,0.0097	benign	1616/3089	79322343	1,10299	1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79322343C>T	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.4847G>A	9.37:g.79322343C>T	ENSP00000365908:p.Arg1616His					PRUNE2_ENST00000376718.3_Missense_Mutation_p.R1616H	p.R1257H			Q8WUY3	PRUN2_HUMAN			8	4970	-			1616					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.3770G>A	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.890648	0.00527	3.19E-4	0.0	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.39406	1.08;1.08	5.91	-5.58	0.02512	.	1.613590	0.03194	N	0.173709	T	0.08626	0.0214	N	0.00289	-1.7	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29274	-1.0017	10	0.06494	T	0.89	4.1937	3.9404	0.09325	0.1079:0.1256:0.4463:0.3201	.	1616	Q8WUY3	PRUN2_HUMAN	H	1616;1257;1615	ENSP00000365908:R1616H;ENSP00000397425:R1257H	ENSP00000365908:R1616H	R	-	2	0	PRUNE2	78512163	0.049000	0.20398	0.000000	0.03702	0.165000	0.22458	-0.101000	0.10973	-0.749000	0.04747	-0.290000	0.09829	CGC		0.353	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		4	56	0	0	0	0.00024832	0	4	56					T	79322343	C	T	79322343	3	4	296	1	0	0	0	0	1	0	0	0	12641	768	27	1	4467	1	PRUNE2	9	79322343	Missense_Mutation	SNP	C	TCGA-EM-A2CP-01A-11D-A17V-08		79322343	61891088	2	6346											
C11orf2	738	broad.mit.edu	37	chr11	64878010	64878010	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cagagcagcgactccagcaaGaggactttctccgtgtacag	11	12	1	2			TCGA-EM-A2CP-01A-11D-A17V-08	TCGA-EM-A2CP-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8cd6882-be27-4742-bc63-3227d31bf704	e6101d92-5616-476e-8b38-8b6847ae3d48	g.chr11:64878010G>C	ENST00000279281.3	+	8	2027	c.1935G>C	c.(1933-1935)aaG>aaC	p.K645N	TM7SF2_ENST00000540748.1_5'Flank|AP003068.9_ENST00000528887.1_RNA|VPS51_ENST00000527646.1_3'UTR|TM7SF2_ENST00000279263.7_5'Flank|TM7SF2_ENST00000345348.5_5'Flank	NM_013265.2	NP_037397.2	Q9UID3	VPS51_HUMAN	vacuolar protein sorting 51 homolog (S. cerevisiae)	645					autophagy (GO:0006914)|lipid transport (GO:0006869)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											ACTCCAGCAAGAGGACTTTCT	0.637											OREG0021071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000279281.3																			0											c.(1933-1935)aaG>aaC		vacuolar protein sorting 51 homolog (S. cerevisiae)							99	108	105					11																	64878010		2201	4297	6498	SO:0001583	missense	738							g.chr11:64878010G>C	AF024631	CCDS8093.1	11q13.1	2012-07-19	2012-07-19	2012-07-19	ENSG00000149823	ENSG00000149823			1172	protein-coding gene	gene with protein product	"fat-free homolog (zebrafish)"	615738	"chromosome 11 open reading frame 3", "chromosome 11 open reading frame 2"	C11orf3, C11orf2		9286704, 20685960	Standard	NM_013265		Approved	ANG2, ANG3, FFR	uc001ocr.2	Q9UID3	OTTHUMG00000165600	ENST00000279281.3:c.1935G>C	11.37:g.64878010G>C	ENSP00000279281:p.Lys645Asn		OREG0021071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1079	VPS51_ENST00000527646.1_3'UTR	p.K645N	NM_013265.2	NP_037397.2					8	2027	+								Q6PJV5|Q7L8A6|Q8WZ35|Q96DF4|Q96GR3	Missense_Mutation	SNP	ENST00000279281.3	37	c.1935G>C	CCDS8093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	4.005779|4.005779	0.74932|0.74932	.|.	.|.	ENSG00000149823|ENSG00000149823	ENST00000279281;ENST00000530673|ENST00000526856	.|.	.|.	.|.	4.77|4.77	0.647|0.647	0.17796|0.17796	.|.	0.053764|.	0.64402|.	D|.	0.000001|.	T|T	0.56775|0.56775	0.2008|0.2008	L|L	0.57536|0.57536	1.79|1.79	0.53005|0.53005	D|D	0.999969|0.999969	P|.	0.45634|.	0.863|.	P|.	0.45276|.	0.475|.	T|T	0.50659|0.50659	-0.8802|-0.8802	9|5	0.30854|.	T|.	0.27|.	-6.0758|-6.0758	6.7776|6.7776	0.23628|0.23628	0.5474:0.0:0.4526:0.0|0.5474:0.0:0.4526:0.0	.|.	645|.	Q9UID3|.	FFR_HUMAN|.	N|T	645;19|143	.|.	ENSP00000279281:K645N|.	K|R	+|+	3|2	2|0	C11orf2|C11orf2	64634586|64634586	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	0.854000|0.854000	0.27791|0.27791	0.276000|0.276000	0.22118|0.22118	-0.339000|-0.339000	0.08088|0.08088	AAG|AGA		0.637	VPS51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385217.1	NM_013265		4	193	0	0	0	0.00024832	0	4	193					C	64878010	G	C	64878010	3	2	296	1	0	0	0	0	1	0	0	0	1633	933	33	4	1965	4	C11orf2	11	64878010	Missense_Mutation	SNP	G	TCGA-EM-A2CP-01A-11D-A17V-08		64878010	70128506	3	6347											
LRRC32	2615	broad.mit.edu	37	chr11	76371702	76371702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagagctgggaaagggggCggccgctggcattcccgctg	17	11	1	1			TCGA-EM-A2CP-01A-11D-A17V-08	TCGA-EM-A2CP-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8cd6882-be27-4742-bc63-3227d31bf704	e6101d92-5616-476e-8b38-8b6847ae3d48	g.chr11:76371702C>T	ENST00000407242.2	-	3	1177	c.935G>A	c.(934-936)cGc>cAc	p.R312H	LRRC32_ENST00000260061.5_Missense_Mutation_p.R312H|LRRC32_ENST00000404995.1_Missense_Mutation_p.R312H|LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	312					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GGAAAGGGGGCGGCCGCTGGC	0.622																																						ENST00000407242.2																			0				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						c.(934-936)cGc>cAc		leucine rich repeat containing 32							18	23	21					11																	76371702		2200	4292	6492	SO:0001583	missense	2615					integral to plasma membrane		g.chr11:76371702C>T	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"glycoprotein A repetitions predominant"	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.935G>A	11.37:g.76371702C>T	ENSP00000384126:p.Arg312His					LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_Missense_Mutation_p.R312H|LRRC32_ENST00000404995.1_Missense_Mutation_p.R312H	p.R312H	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN			3	1177	-			312					Q86V06	Missense_Mutation	SNP	ENST00000407242.2	37	c.935G>A	CCDS8245.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.361592	0.01235	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995	T;T;T	0.04502	3.61;3.61;3.61	4.55	-1.38	0.09027	.	1.521110	0.03962	N	0.290140	T	0.02156	0.0067	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42932	-0.9422	10	0.12430	T	0.62	.	0.0462	0.00010	0.2789:0.194:0.2344:0.2927	.	312	Q14392	LRC32_HUMAN	H	312	ENSP00000260061:R312H;ENSP00000384126:R312H;ENSP00000385766:R312H	ENSP00000260061:R312H	R	-	2	0	LRRC32	76049350	0.000000	0.05858	0.001000	0.08648	0.074000	0.17049	-0.728000	0.04925	-0.007000	0.14345	-0.474000	0.04947	CGC		0.622	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		7	44	0	0	0	0.000157383	0	7	44					T	76371702	C	T	76371702	3	4	296	1	0	0	0	0	1	0	0	0	8987	768	27	1	1057	1	LRRC32	11	76371702	Missense_Mutation	SNP	C	TCGA-EM-A2CP-01A-11D-A17V-08	11493692	76371702	58634814	4	6348											
KDM6B	23135	broad.mit.edu	37	chr17	7751764	7751765	+	Frame_Shift_Ins	INS	-	-	C													acaacacgaagcaggcgtggINSccccccaacccccgctgaag							TCGA-EM-A2CP-01A-11D-A17V-08	TCGA-EM-A2CP-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8cd6882-be27-4742-bc63-3227d31bf704	e6101d92-5616-476e-8b38-8b6847ae3d48	g.chr17:7751764_7751765insC	ENST00000448097.2	+	11	2489_2490	c.2158_2159insC	c.(2158-2160)gccfs	p.A720fs	KDM6B_ENST00000254846.5_Frame_Shift_Ins_p.A720fs			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	720	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						AGCAGGCGTGGCCCCCCAACCC	0.584																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(2158-2160)cccfs		lysine (K)-specific demethylase 6B																																				SO:0001589	frameshift_variant	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7751764_7751765insC	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.2164dupC	17.37:g.7751770_7751770dupC	ENSP00000412513:p.Ala720fs					KDM6B_ENST00000448097.2_Frame_Shift_Ins_p.P720fs	p.P720fs	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			11	2547_2548	+			720			Pro-rich.		C9IZ40|Q96G33	Frame_Shift_Ins	INS	ENST00000448097.2	37	c.2158_2159insC																																																																																					0.584	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		11	195						11	195	---	---	---	---	C	7751765	-	C	7751764	7	5	296	1	0	1	1	0	0	0	0	0	8138	1203	42	0	2188	0	KDM6B	17	7751764	Frame_Shift_Ins	INS	-	TCGA-EM-A2CP-01A-11D-A17V-08		7751764	73443446	5	6349											
C22orf31	25770	broad.mit.edu	37	chr22	29456530	29456530	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ccttgtgctttaatctcttcGagagttttccttctccaaac	5	12	2	1			TCGA-EM-A2CP-01A-11D-A17V-08	TCGA-EM-A2CP-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8cd6882-be27-4742-bc63-3227d31bf704	e6101d92-5616-476e-8b38-8b6847ae3d48	g.chr22:29456530G>C	ENST00000216071.4	-	2	356	c.305C>G	c.(304-306)tCg>tGg	p.S102W		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	102										cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						TAATCTCTTCGAGAGTTTTCC	0.483																																						ENST00000216071.4																			0				cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						c.(304-306)tCg>tGg		chromosome 22 open reading frame 31							109	101	103					22																	29456530		2203	4300	6503	SO:0001583	missense	25770							g.chr22:29456530G>C	AL035364	CCDS13848.1	22q12.1	2006-07-05			ENSG00000100249	ENSG00000100249			26931	protein-coding gene	gene with protein product						15461802	Standard	XM_005261490		Approved	HS747E2A, bK747E2.1	uc003aej.1	O95567	OTTHUMG00000151011	ENST00000216071.4:c.305C>G	22.37:g.29456530G>C	ENSP00000216071:p.Ser102Trp						p.S102W	NM_015370.1	NP_056185.1	O95567	CV031_HUMAN			2	356	-			102					A0AV97	Missense_Mutation	SNP	ENST00000216071.4	37	c.305C>G	CCDS13848.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822836	0.32237	.	.	ENSG00000100249	ENST00000216071	T	0.33865	1.39	4.91	-0.893	0.10567	.	1.417790	0.04670	N	0.410474	T	0.38639	0.1048	L	0.27053	0.805	0.09310	N	1	D	0.62365	0.991	P	0.57911	0.829	T	0.34104	-0.9842	10	0.59425	D	0.04	1.8066	5.525	0.16953	0.1638:0.3362:0.5:0.0	.	102	O95567	CV031_HUMAN	W	102	ENSP00000216071:S102W	ENSP00000216071:S102W	S	-	2	0	C22orf31	27786530	0.000000	0.05858	0.010000	0.14722	0.916000	0.54674	-0.117000	0.10708	0.013000	0.14918	0.585000	0.79938	TCG		0.483	C22orf31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320952.1	NM_015370		3	141	0	0	0	6.4e-05	0	3	141					C	29456530	G	C	29456530	3	2	296	1	0	0	0	0	1	0	0	0	2143	1059	37	4	575	4	C22orf31	22	29456530	Missense_Mutation	SNP	G	TCGA-EM-A2CP-01A-11D-A17V-08		29456530	21848036	6	6350											
MAGED2	10916	broad.mit.edu	37	chrX	54841696	54841696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcaggtacaaaagaaggatCccaaggaatgggcagctcag	12	8	2	1			TCGA-EM-A2CP-01A-11D-A17V-08	TCGA-EM-A2CP-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8cd6882-be27-4742-bc63-3227d31bf704	e6101d92-5616-476e-8b38-8b6847ae3d48	g.chrX:54841696C>T	ENST00000375068.1	+	12	1635	c.1402C>T	c.(1402-1404)Ccc>Tcc	p.P468S	MAGED2_ENST00000347546.4_Missense_Mutation_p.P450S|MAGED2_ENST00000375060.1_Missense_Mutation_p.P383S|SNORA11_ENST00000408789.1_RNA|MAGED2_ENST00000375058.1_Missense_Mutation_p.P468S|MAGED2_ENST00000375062.4_Missense_Mutation_p.P383S|MAGED2_ENST00000396224.1_Missense_Mutation_p.P468S|MAGED2_ENST00000218439.4_Missense_Mutation_p.P468S|MAGED2_ENST00000375053.2_Missense_Mutation_p.P468S			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	468	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					membrane (GO:0016020)		p.P468S(1)		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						AAAGAAGGATCCCAAGGAATG	0.458																																						ENST00000375068.1																			1	Substitution - Missense(1)	p.P468S(1)	skin(1)	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.(1402-1404)Ccc>Tcc		melanoma antigen family D, 2							47	47	47					X																	54841696		2202	4294	6496	SO:0001583	missense	10916							g.chrX:54841696C>T	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.1402C>T	X.37:g.54841696C>T	ENSP00000364209:p.Pro468Ser					MAGED2_ENST00000375053.2_Missense_Mutation_p.P468S|MAGED2_ENST00000375060.1_Missense_Mutation_p.P383S|MAGED2_ENST00000396224.1_Missense_Mutation_p.P468S|MAGED2_ENST00000375062.4_Missense_Mutation_p.P383S|MAGED2_ENST00000347546.3_Missense_Mutation_p.P412S|MAGED2_ENST00000343474.6_Missense_Mutation_p.P450S|MAGED2_ENST00000375058.1_Missense_Mutation_p.P468S|MAGED2_ENST00000218439.4_Missense_Mutation_p.P468S	p.P468S			Q9UNF1	MAGD2_HUMAN			12	1635	+			468			MAGE.		A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Missense_Mutation	SNP	ENST00000375068.1	37	c.1402C>T	CCDS14362.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.355027	0.61293	.	.	ENSG00000102316	ENST00000375068;ENST00000375053;ENST00000347546;ENST00000343474;ENST00000375062;ENST00000218439;ENST00000375058;ENST00000375060;ENST00000396224	T;T;T;T;T;T;T;T;T	0.38722	3.64;3.64;3.76;3.6;1.12;3.64;3.64;1.12;3.64	4.73	4.73	0.59995	.	0.000000	0.45361	D	0.000366	T	0.62612	0.2442	M	0.73753	2.245	0.48395	D	0.999646	D;P	0.76494	0.999;0.76	D;P	0.67900	0.954;0.674	T	0.67964	-0.5534	10	0.87932	D	0	.	14.0723	0.64868	0.0:1.0:0.0:0.0	.	383;468	Q5H907;Q9UNF1	.;MAGD2_HUMAN	S	468;468;412;450;383;468;468;383;468	ENSP00000364209:P468S;ENSP00000364193:P468S;ENSP00000336962:P412S;ENSP00000340290:P450S;ENSP00000364202:P383S;ENSP00000218439:P468S;ENSP00000364198:P468S;ENSP00000364200:P383S;ENSP00000379526:P468S	ENSP00000218439:P468S	P	+	1	0	MAGED2	54858421	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.334000	0.59291	2.098000	0.63641	0.513000	0.50165	CCC		0.458	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056821.2	NM_014599		4	70	0	0	0	1.23904e-05	0	4	70					T	54841696	C	T	54841696	3	4	296	1	0	0	0	0	1	0	0	0	9184	855	30	2	1444	2	MAGED2	23	54841696	Missense_Mutation	SNP	C	TCGA-EM-A2CP-01A-11D-A17V-08		54841696	100428864	7	6351											
PRRG3	79057	broad.mit.edu	37	chrX	150869382	150869382	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtccagcaccacccctccCccctcctacgaggaggtgac	8	20	0	1			TCGA-EM-A2CP-01A-11D-A17V-08	TCGA-EM-A2CP-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8cd6882-be27-4742-bc63-3227d31bf704	e6101d92-5616-476e-8b38-8b6847ae3d48	g.chrX:150869382C>T	ENST00000370353.3	+	4	963	c.573C>T	c.(571-573)ccC>ccT	p.P191P	PRRG3_ENST00000538575.1_Silent_p.P191P			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	191						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CCACCCCTCCCCCCTCCTACG	0.647																																						ENST00000370353.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24						c.(571-573)ccC>ccT		proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)							56	45	49					X																	150869382		2203	4300	6503	SO:0001819	synonymous_variant	79057					extracellular region|integral to membrane	calcium ion binding	g.chrX:150869382C>T	AK074574	CCDS14699.1	Xq28	2008-02-05			ENSG00000130032	ENSG00000130032			30798	protein-coding gene	gene with protein product		300685				11171957	Standard	NM_024082		Approved	TMG3	uc022cgt.1	Q9BZD7	OTTHUMG00000024170	ENST00000370353.3:c.573C>T	X.37:g.150869382C>T						PRRG3_ENST00000538575.1_Silent_p.P191P	p.P191P			Q9BZD7	TMG3_HUMAN			4	963	+	Acute lymphoblastic leukemia(192;6.56e-05)		191					A1A523|A1A575|Q8N2N6	Silent	SNP	ENST00000370353.3	37	c.573C>T	CCDS14699.1																																																																																				0.647	PRRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060880.1	NM_024082		4	63	0	0	0	1.23904e-05	0	4	63					T	150869382	C	T	150869382	2	4	296	1	0	0	0	0	0	0	0	1	12607	610	22	2		2	PRRG3	23	150869382	Silent	SNP	C	TCGA-EM-A2CP-01A-11D-A17V-08	96027686	150869382	4401178	8	6352											
CSMD2	114784	broad.mit.edu	37	chr1	34209059	34209059	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aggaaatcaaactgaggctcCacgtcaatgtcgttgaaggc	11	9	2	2			TCGA-EM-A2CQ-01A-11D-A17V-08	TCGA-EM-A2CQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a10ad75-164b-40d4-81c1-e77e26e959b1	c61db865-9f07-42b6-854f-73e37b642f25	g.chr1:34209059C>G	ENST00000373381.4	-	14	2171	c.1995G>C	c.(1993-1995)gtG>gtC	p.V665V		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	625	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACTGAGGCTCCACGTCAATGT	0.597																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(1993-1995)gtG>gtC		CUB and Sushi multiple domains 2							84	84	84					1																	34209059		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34209059C>G	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.1995G>C	1.37:g.34209059C>G							p.V665V	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			14	2171	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	625			CUB 4.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37	c.1995G>C																																																																																					0.597	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		3	95	0	0	0	0.115264	0	3	95					G	34209059	C	G	34209059	2	3	297	1	0	0	0	0	0	0	0	1	3945	581	21	4		4	CSMD2	1	34209059	Silent	SNP	C	TCGA-EM-A2CQ-01A-11D-A17V-08		34209059	215041562	1	6353											
TET3	200424	broad.mit.edu	37	chr2	74300714	74300714	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgaaggtccatattatactCacttgggatctggccccacg	9	11	2	1			TCGA-EM-A2CQ-01A-11D-A17V-08	TCGA-EM-A2CQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a10ad75-164b-40d4-81c1-e77e26e959b1	c61db865-9f07-42b6-854f-73e37b642f25	g.chr2:74300714C>T	ENST00000409262.3	+	2	2128	c.2128C>T	c.(2128-2130)Cac>Tac	p.H710Y		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	710					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ATATTATACTCACTTGGGATC	0.413																																						ENST00000409262.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2128-2130)Cac>Tac		tet methylcytosine dioxygenase 3							51	55	54					2																	74300714		1846	4095	5941	SO:0001583	missense	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74300714C>T		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"tet oncogene family member 3"			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.2128C>T	2.37:g.74300714C>T	ENSP00000386869:p.His710Tyr						p.H710Y	NM_144993.1	NP_659430.1	O43151	TET3_HUMAN			2	2128	+			710					A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	c.2128C>T	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889379	0.91889	.	.	ENSG00000187605	ENST00000409262;ENST00000233310	T	0.39229	1.09	5.36	5.36	0.76844	TET cysteine-rich domain (1);	.	.	.	.	T	0.67382	0.2887	M	0.80616	2.505	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.71052	-0.4704	9	0.87932	D	0	.	18.0225	0.89259	0.0:1.0:0.0:0.0	.	710	O43151	TET3_HUMAN	Y	710	ENSP00000386869:H710Y	ENSP00000233310:H710Y	H	+	1	0	TET3	74154222	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.241000	0.78201	2.763000	0.94921	0.655000	0.94253	CAC		0.413	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			3	24	0	0	0	0.115264	0	3	24					T	74300714	C	T	74300714	3	4	297	1	0	0	0	0	1	0	0	0	15768	826	29	2	2134	2	TET3	2	74300714	Missense_Mutation	SNP	C	TCGA-EM-A2CQ-01A-11D-A17V-08		74300714	168898659	2	6354											
TRNT1	51095	broad.mit.edu	37	chr3	3189629	3189629	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctactcgtgtatgtgaactaCtgaagtaccaaggagagcac	10	9	0	3			TCGA-EM-A2CQ-01A-11D-A17V-08	TCGA-EM-A2CQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a10ad75-164b-40d4-81c1-e77e26e959b1	c61db865-9f07-42b6-854f-73e37b642f25	g.chr3:3189629C>T	ENST00000251607.6	+	8	1198	c.1096C>T	c.(1096-1098)Ctg>Ttg	p.L366L	TRNT1_ENST00000280591.6_Silent_p.L346L	NM_182916.2	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	366					protein targeting to mitochondrion (GO:0006626)|tRNA 3'-end processing (GO:0042780)|tRNA 3'-terminal CCA addition (GO:0001680)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP:3'-cytidine-cytidine-tRNA adenylyltransferase activity (GO:0052929)|CTP:3'-cytidine-tRNA cytidylyltransferase activity (GO:0052928)|CTP:tRNA cytidylyltransferase activity (GO:0052927)|tRNA adenylyltransferase activity (GO:0004810)|tRNA binding (GO:0000049)			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		ATGTGAACTACTGAAGTACCA	0.418																																						ENST00000251607.6																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12						c.(1096-1098)Ctg>Ttg		tRNA nucleotidyl transferase, CCA-adding, 1							119	111	114					3																	3189629		2203	4300	6503	SO:0001819	synonymous_variant	51095				protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding	g.chr3:3189629C>T	AF151805	CCDS2561.2	3p25.1	2002-05-30			ENSG00000072756	ENSG00000072756	2.7.7.25		17341	protein-coding gene	gene with protein product		612907				10810093, 11504732	Standard	NM_182916		Approved	MtCCA, CGI-47, CCA1	uc003bpp.4	Q96Q11	OTTHUMG00000090259	ENST00000251607.6:c.1096C>T	3.37:g.3189629C>T						TRNT1_ENST00000280591.6_Silent_p.L346L	p.L366L	NM_182916.2	NP_886552.2	Q96Q11	TRNT1_HUMAN		Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)	8	1198	+			366					A8K2Z6|B7WP13|C9JKA2|Q8ND57|Q9BS97|Q9Y362	Silent	SNP	ENST00000251607.6	37	c.1096C>T	CCDS2561.2																																																																																				0.418	TRNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337616.1			21	60	0	0	0	0.069288	0	21	60					T	3189629	C	T	3189629	2	4	297	1	0	0	0	0	0	0	0	1	16570	564	20	2		2	TRNT1	3	3189629	Silent	SNP	C	TCGA-EM-A2CQ-01A-11D-A17V-08		3189629	194832801	3	6355											
ROBO2	6092	broad.mit.edu	37	chr3	77626739	77626739	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctcctcctccagatcacCagaatggaattatccaagaa	5	13	1	3			TCGA-EM-A2CQ-01A-11D-A17V-08	TCGA-EM-A2CQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a10ad75-164b-40d4-81c1-e77e26e959b1	c61db865-9f07-42b6-854f-73e37b642f25	g.chr3:77626739C>T	ENST00000461745.1	+	15	3202	c.2302C>T	c.(2302-2304)Cag>Tag	p.Q768*	ROBO2_ENST00000332191.8_Nonsense_Mutation_p.Q768*|ROBO2_ENST00000487694.3_Nonsense_Mutation_p.Q784*	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	768	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCCAGATCACCAGAATGGAAT	0.483																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(2302-2304)Cag>Tag		roundabout, axon guidance receptor, homolog 2 (Drosophila)							76	76	76					3																	77626739		1890	4106	5996	SO:0001587	stop_gained	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77626739C>T	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.2302C>T	3.37:g.77626739C>T	ENSP00000417164:p.Gln768*					ROBO2_ENST00000332191.8_Nonsense_Mutation_p.Q768*|ROBO2_ENST00000487694.3_Nonsense_Mutation_p.Q784*	p.Q768*	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	15	3202	+			768			Fibronectin type-III 3.		O43608|Q19AB4|Q19AB5	Nonsense_Mutation	SNP	ENST00000461745.1	37	c.2302C>T	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	C	40	8.011514	0.98610	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	.	.	.	5.66	5.66	0.87406	.	0.000000	0.43747	D	0.000533	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	19.7501	0.96265	0.0:1.0:0.0:0.0	.	.	.	.	X	784;784;788;768;768;489	.	ENSP00000327536:Q768X	Q	+	1	0	ROBO2	77709429	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	7.818000	0.86416	2.667000	0.90743	0.491000	0.48974	CAG		0.483	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		3	51	0	0	0	0.115264	0	3	51					T	77626739	C	T	77626739	4	4	297	1	0	0	0	0	0	1	0	0	13514	595	21	2	2362	2	ROBO2	3	77626739	Nonsense_Mutation	SNP	C	TCGA-EM-A2CQ-01A-11D-A17V-08	74437110	77626739	120395691	4	6356											
ADH7	131	broad.mit.edu	37	chr4	100341795	100341795	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagagtccttgggactgatAcactcagtggcacctacagc	11	11	1	2			TCGA-EM-A2CQ-01A-11D-A17V-08	TCGA-EM-A2CQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a10ad75-164b-40d4-81c1-e77e26e959b1	c61db865-9f07-42b6-854f-73e37b642f25	g.chr4:100341795A>G	ENST00000209665.4	-	6	996	c.756T>C	c.(754-756)tgT>tgC	p.C252C	ADH7_ENST00000482593.1_Silent_p.C183C|ADH7_ENST00000476959.1_Silent_p.C260C|ADH7_ENST00000437033.2_Silent_p.C240C	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	252					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		TGGGACTGATACACTCAGTGG	0.468																																						ENST00000437033.2																			0				breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19						c.(718-720)tgT>tgC		alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	NADH(DB00157)						176	145	156					4																	100341795		2203	4300	6503	SO:0001819	synonymous_variant	131				ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity	g.chr4:100341795A>G	X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"Alcohol dehydrogenases"	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.756T>C	4.37:g.100341795A>G						ADH7_ENST00000476959.1_Silent_p.C260C|ADH7_ENST00000209665.4_Silent_p.C252C|ADH7_ENST00000482593.1_Silent_p.C183C	p.C240C			P40394	ADH7_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	6	1223	-			252					A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Silent	SNP	ENST00000209665.4	37	c.720T>C	CCDS34034.1																																																																																				0.468	ADH7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000673		3	106	0	0	0	0.150653	0	3	106					G	100341795	A	G	100341795	2	3	297	1	0	0	0	0	0	0	0	1	313	389	14	3		3	ADH7	4	100341795	Silent	SNP	A	TCGA-EM-A2CQ-01A-11D-A17V-08		100341795	90812481	5	6357											
DCHS2	54798	broad.mit.edu	37	chr4	155157321	155157321	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatatcccctgtcaaagggTcaatgaggaagagatcatga	11	7	3	3			TCGA-EM-A2CQ-01A-11D-A17V-08	TCGA-EM-A2CQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a10ad75-164b-40d4-81c1-e77e26e959b1	c61db865-9f07-42b6-854f-73e37b642f25	g.chr4:155157321T>C	ENST00000357232.4	-	25	7117	c.7118A>G	c.(7117-7119)gAc>gGc	p.D2373G		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2373	Cadherin 21. {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)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGTCAAAGGGTCAATGAGGAA	0.403																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(7117-7119)gAc>gGc		dachsous cadherin-related 2							99	92	94					4																	155157321		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155157321T>C	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7118A>G	4.37:g.155157321T>C	ENSP00000349768:p.Asp2373Gly						p.D2373G	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	7117	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2373			Cadherin 21.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.7118A>G	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	T	19.75	3.885857	0.72410	.	.	ENSG00000197410	ENST00000357232	T	0.23950	1.88	5.6	5.6	0.85130	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000001	T	0.56615	0.1997	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63269	-0.6675	10	0.66056	D	0.02	.	16.0859	0.81049	0.0:0.0:0.0:1.0	.	2373	Q6V1P9	PCD23_HUMAN	G	2373	ENSP00000349768:D2373G	ENSP00000349768:D2373G	D	-	2	0	DCHS2	155376771	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	7.997000	0.88414	2.248000	0.74166	0.460000	0.39030	GAC		0.403	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		3	82	0	0	0	0.115264	0	3	82					C	155157321	T	C	155157321	3	2	297	1	0	0	0	0	1	0	0	0	4288	1667	58	3	1636	3	DCHS2	4	155157321	Missense_Mutation	SNP	T	TCGA-EM-A2CQ-01A-11D-A17V-08	54815526	155157321	35996955	6	6358											
TNXB	7148	broad.mit.edu	37	chr6	32037914	32037914	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccctcacccgtggtgccGtcggcagtgagagggccatg	15	14	1	1	rs377387902		TCGA-EM-A2CQ-01A-11D-A17V-08	TCGA-EM-A2CQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a10ad75-164b-40d4-81c1-e77e26e959b1	c61db865-9f07-42b6-854f-73e37b642f25	g.chr6:32037914G>A	ENST00000375244.3	-	14	5469	c.5268C>T	c.(5266-5268)gaC>gaT	p.D1756D	TNXB_ENST00000375247.2_Silent_p.D1756D			P22105	TENX_HUMAN	tenascin XB	1838	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCGTGGTGCCGTCGGCAGTGA	0.617																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(5266-5268)gaC>gaT		tenascin XB							23	26	25					6																	32037914		2042	4191	6233	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32037914G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.5268C>T	6.37:g.32037914G>A						TNXB_ENST00000375247.2_Silent_p.D1756D	p.D1756D			P22105	TENX_HUMAN			14	5469	-			1838			Fibronectin type-III 10.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.5268C>T																																																																																					0.617	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		4	14	0	0	0	0.021553	0	4	14					A	32037914	G	A	32037914	2	1	297	1	0	0	0	0	0	0	0	1	16343	1136	40	1		1	TNXB	6	32037914	Silent	SNP	G	TCGA-EM-A2CQ-01A-11D-A17V-08		32037914	139077153	7	6359											
NPC1L1	29881	broad.mit.edu	37	chr7	44578614	44578614	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagggagatgttgcgctgtGcttcgggcgaccatacctgg	16	10	0	1			TCGA-EM-A2CQ-01A-11D-A17V-08	TCGA-EM-A2CQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a10ad75-164b-40d4-81c1-e77e26e959b1	c61db865-9f07-42b6-854f-73e37b642f25	g.chr7:44578614G>T	ENST00000289547.4	-	2	1437	c.1382C>A	c.(1381-1383)gCa>gAa	p.A461E	NPC1L1_ENST00000546276.1_Missense_Mutation_p.A461E|NPC1L1_ENST00000423141.1_Missense_Mutation_p.A461E|NPC1L1_ENST00000381160.3_Missense_Mutation_p.A461E	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	461					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GTTGCGCTGTGCTTCGGGCGA	0.592																																						ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(1381-1383)gCa>gAa		NPC1-like 1	Ezetimibe(DB00973)						103	94	97					7																	44578614		2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44578614G>T		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.1382C>A	7.37:g.44578614G>T	ENSP00000289547:p.Ala461Glu					NPC1L1_ENST00000546276.1_Missense_Mutation_p.A461E|NPC1L1_ENST00000381160.3_Missense_Mutation_p.A461E|NPC1L1_ENST00000423141.1_Missense_Mutation_p.A461E	p.A461E	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			2	1437	-			461					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.1382C>A	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	g	0.299	-0.975085	0.02215	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37	4.8	-0.00169	0.14033	.	0.688240	0.14331	N	0.326379	T	0.69378	0.3104	N	0.02391	-0.57	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.0	T	0.53373	-0.8448	10	0.02654	T	1	-15.548	13.6298	0.62189	0.0:0.0:0.1643:0.8357	.	461;461;461;461	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	E	461	ENSP00000289547:A461E;ENSP00000370552:A461E;ENSP00000438033:A461E;ENSP00000404670:A461E	ENSP00000289547:A461E	A	-	2	0	NPC1L1	44545139	0.009000	0.17119	0.389000	0.26208	0.912000	0.54170	0.809000	0.27168	-0.283000	0.09115	0.407000	0.27541	GCA		0.592	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		7	42	1	0	0.00198382	0.02938	0.00330636	7	42					T	44578614	G	T	44578614	3	4	297	1	0	0	0	0	1	0	0	0	10571	1319	46	4	2773	4	NPC1L1	7	44578614	Missense_Mutation	SNP	G	TCGA-EM-A2CQ-01A-11D-A17V-08		44578614	114560049	8	6360											
MGAM	8972	broad.mit.edu	37	chr7	141758106	141758106	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgccagcttgtatgatgagaTggtggctgcccagatccctt	12	11	0	3			TCGA-EM-A2CQ-01A-11D-A17V-08	TCGA-EM-A2CQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a10ad75-164b-40d4-81c1-e77e26e959b1	c61db865-9f07-42b6-854f-73e37b642f25	g.chr7:141758106T>C	ENST00000549489.2	+	31	3892	c.3797T>C	c.(3796-3798)aTg>aCg	p.M1266T	MGAM_ENST00000475668.2_Missense_Mutation_p.M1266T	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1266	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TATGATGAGATGGTGGCTGCC	0.498																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(3796-3798)aTg>aCg		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						218	203	208					7																	141758106		1979	4177	6156	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141758106T>C	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3797T>C	7.37:g.141758106T>C	ENSP00000447378:p.Met1266Thr					MGAM_ENST00000549489.2_Missense_Mutation_p.M1266T	p.M1266T			O43451	MGA_HUMAN			31	3851	+	Melanoma(164;0.0272)		1266			Glucoamylase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.3797T>C	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	t	14.97	2.694088	0.48202	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.91521	-2.86	3.72	3.72	0.42706	Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.92237	0.7538	M	0.76433	2.335	0.44539	D	0.997492	P	0.41784	0.762	P	0.50659	0.647	D	0.91348	0.5102	9	0.44086	T	0.13	.	11.4529	0.50164	0.0:0.0:0.0:1.0	.	1266	O43451	MGA_HUMAN	T	1266;1266;1143	ENSP00000447378:M1266T	ENSP00000316431:M1143T	M	+	2	0	MGAM	141404575	1.000000	0.71417	0.985000	0.45067	0.399000	0.30720	6.039000	0.70972	1.327000	0.45338	0.145000	0.16022	ATG		0.498	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			91	217	0	0	0	0.139131	0	91	217					C	141758106	T	C	141758106	3	2	297	1	0	0	0	0	1	0	0	0	9541	1464	51	3	3915	3	MGAM	7	141758106	Missense_Mutation	SNP	T	TCGA-EM-A2CQ-01A-11D-A17V-08	97179492	141758106	17380557	9	6361											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-EM-A2CQ-01A-11D-A17V-08	TCGA-EM-A2CQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a10ad75-164b-40d4-81c1-e77e26e959b1	c61db865-9f07-42b6-854f-73e37b642f25	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		7	10	1	0	2.0095e-06	0.02938	3.51662e-06	7	10					A	25398284	C	A	25398284	3	1	297	1	0	0	0	0	1	0	0	0	8438	507	18	4	671	4	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-EM-A2CQ-01A-11D-A17V-08		25398284	108453611	10	6362											
COL6A2	1292	broad.mit.edu	37	chr21	47545200	47545200	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtgtgacgtcatgacctaCgtgagggagacctgcgggtg	17	8	1	4			TCGA-EM-A2CQ-01A-11D-A17V-08	TCGA-EM-A2CQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a10ad75-164b-40d4-81c1-e77e26e959b1	c61db865-9f07-42b6-854f-73e37b642f25	g.chr21:47545200C>T	ENST00000300527.4	+	24	1895	c.1791C>T	c.(1789-1791)taC>taT	p.Y597Y	COL6A2_ENST00000310645.5_Silent_p.Y597Y|COL6A2_ENST00000357838.4_Silent_p.Y597Y|COL6A2_ENST00000409416.1_Silent_p.Y597Y|COL6A2_ENST00000397763.1_Silent_p.Y597Y	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	597	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TCATGACCTACGTGAGGGAGA	0.687																																						ENST00000300527.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1789-1791)taC>taT		collagen, type VI, alpha 2							99	98	99					21																	47545200		2203	4300	6503	SO:0001819	synonymous_variant	0				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47545200C>T	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.1791C>T	21.37:g.47545200C>T						COL6A2_ENST00000397763.1_Silent_p.Y597Y|COL6A2_ENST00000409416.1_Silent_p.Y597Y|COL6A2_ENST00000357838.4_Silent_p.Y597Y|COL6A2_ENST00000310645.5_Silent_p.Y597Y	p.Y597Y	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	24	1895	+	Breast(49;0.245)		597			Nonhelical region.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	ENST00000300527.4	37	c.1791C>T	CCDS13728.1																																																																																				0.687	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			5	144	0	0	0	0.021553	0	5	144					T	47545200	C	T	47545200	2	4	297	1	0	0	0	0	0	0	0	1	3700	547	19	1		1	COL6A2	21	47545200	Silent	SNP	C	TCGA-EM-A2CQ-01A-11D-A17V-08		47545200	584695	11	6363											
MAGEB6	158809	broad.mit.edu	37	chrX	26212711	26212711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttggtggtggcctttggcGttgaattgaaagaaatggat	14	3	0	3			TCGA-EM-A2CQ-01A-11D-A17V-08	TCGA-EM-A2CQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a10ad75-164b-40d4-81c1-e77e26e959b1	c61db865-9f07-42b6-854f-73e37b642f25	g.chrX:26212711G>A	ENST00000379034.1	+	2	897	c.748G>A	c.(748-750)Gtt>Att	p.V250I		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	250	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GGCCTTTGGCGTTGAATTGAA	0.517																																						ENST00000379034.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(748-750)Gtt>Att		melanoma antigen family B, 6							70	58	62					X																	26212711		2202	4300	6502	SO:0001583	missense	158809							g.chrX:26212711G>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.748G>A	X.37:g.26212711G>A	ENSP00000368320:p.Val250Ile						p.V250I	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	897	+			250			MAGE.		Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.748G>A	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.806476	0.31961	.	.	ENSG00000176746	ENST00000379034	T	0.04454	3.62	3.1	-0.926	0.10455	.	0.196337	0.33496	U	0.004859	T	0.02688	0.0081	N	0.11364	0.135	0.09310	N	1	D	0.57257	0.979	P	0.50405	0.64	T	0.41106	-0.9527	10	0.15066	T	0.55	.	1.9659	0.03396	0.1849:0.2948:0.3903:0.13	.	250	Q8N7X4	MAGB6_HUMAN	I	250	ENSP00000368320:V250I	ENSP00000368320:V250I	V	+	1	0	MAGEB6	26122632	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.854000	0.01664	-0.380000	0.07894	-0.223000	0.12442	GTT		0.517	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		4	107	0	0	0	0.150653	0	4	107					A	26212711	G	A	26212711	3	1	297	1	0	0	0	0	1	0	0	0	9179	1145	40	1	750	1	MAGEB6	23	26212711	Missense_Mutation	SNP	G	TCGA-EM-A2CQ-01A-11D-A17V-08		26212711	129057849	12	6364											
ELF4	2000	broad.mit.edu	37	chrX	129200994	129200994	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctcaggagctccctcaggGtctcttcaggaaccagcagc	10	15	4	0			TCGA-EM-A2CQ-01A-11D-A17V-08	TCGA-EM-A2CQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a10ad75-164b-40d4-81c1-e77e26e959b1	c61db865-9f07-42b6-854f-73e37b642f25	g.chrX:129200994G>T	ENST00000308167.5	-	9	2073	c.1694C>A	c.(1693-1695)aCc>aAc	p.T565N	ELF4_ENST00000335997.7_Missense_Mutation_p.T565N	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)											breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CTCCCTCAGGGTCTCTTCAGG	0.612			T	ERG	AML																																	ENST00000308167.5				Dom	yes		X	Xq26	2000	T	E74-like factor 4 (ets domain transcription factor)			L	ERG		AML		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1693-1695)aCc>aAc		E74-like factor 4 (ets domain transcription factor)							58	62	61					X																	129200994		2203	4300	6503	SO:0001583	missense	2000				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:129200994G>T	U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.1694C>A	X.37:g.129200994G>T	ENSP00000311280:p.Thr565Asn					ELF4_ENST00000335997.7_Missense_Mutation_p.T565N	p.T565N	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN			9	2073	-			565						Missense_Mutation	SNP	ENST00000308167.5	37	c.1694C>A	CCDS14617.1	.	.	.	.	.	.	.	.	.	.	g	15.95	2.984093	0.53827	.	.	ENSG00000102034	ENST00000335997;ENST00000308167	T;T	0.20463	2.07;2.07	4.38	4.38	0.52667	.	1.137200	0.06535	N	0.742144	T	0.25158	0.0611	L	0.27053	0.805	0.27275	N	0.958266	D	0.61080	0.989	P	0.50082	0.63	T	0.19811	-1.0294	10	0.54805	T	0.06	.	11.2545	0.49045	0.0:0.0:1.0:0.0	.	565	Q99607	ELF4_HUMAN	N	565	ENSP00000338608:T565N;ENSP00000311280:T565N	ENSP00000311280:T565N	T	-	2	0	ELF4	129028675	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.340000	0.43974	2.030000	0.59900	0.431000	0.28591	ACC		0.612	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421		41	111	1	0	4.67007e-22	0.104719	8.60275e-22	41	111					T	129200994	G	T	129200994	3	4	297	1	0	0	0	0	1	0	0	0	5056	1261	44	4	301	4	ELF4	23	129200994	Missense_Mutation	SNP	G	TCGA-EM-A2CQ-01A-11D-A17V-08	102988283	129200994	26069566	13	6365											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290	byFrequency	TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		neuroblastoma RAS viral (v-ras) oncogene homolog							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		62	104	0	0	0	0.01441	0	62	104					C	115256529	T	C	115256529	3	2	298	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-EM-A2CR-01A-11D-A17V-08		115256529	133994092	1	6366											
TMEM37	6344	broad.mit.edu	37	chr2	120194901	120194901	+	IGR	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcctcctcaggaaccaagTcacactcatcggcttcaccc	6	17	4	0			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr2:120194901T>C	ENST00000019103.5	-	0	1865				TMEM37_ENST00000465296.1_3'UTR|TMEM37_ENST00000306406.4_Missense_Mutation_p.V153A|TMEM37_ENST00000409826.1_Missense_Mutation_p.V165A	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor						digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	AGGAACCAAGTCACACTCATC	0.552																																						ENST00000306406.4																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						c.(457-459)gTc>gCc		transmembrane protein 37							199	208	205					2																	120194901		2203	4300	6503	SO:0001628	intergenic_variant	140738					integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr2:120194901T>C		CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"GPCR / Class B : Glucagon receptors"	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407		2.37:g.120194901T>C						TMEM37_ENST00000409826.1_Missense_Mutation_p.V165A|TMEM37_ENST00000465296.1_3'UTR	p.V153A	NM_183240.2	NP_899063.2	Q8WXS4	CCGL_HUMAN			2	493	+			153					Q12961|Q13213|Q53T00	Missense_Mutation	SNP	ENST00000019103.5	37	c.458T>C	CCDS2127.1	.	.	.	.	.	.	.	.	.	.	T	6.323	0.427647	0.11987	.	.	ENSG00000171227	ENST00000409826;ENST00000306406	.	.	.	4.84	2.49	0.30216	.	0.823593	0.10571	N	0.659099	T	0.28034	0.0691	L	0.33485	1.01	0.20638	N	0.999875	B	0.06786	0.001	B	0.09377	0.004	T	0.29941	-0.9995	9	0.13470	T	0.59	-35.2795	6.9328	0.24451	0.0:0.2587:0.0:0.7413	.	153	Q8WXS4	CCGL_HUMAN	A	165;153	.	ENSP00000303148:V153A	V	+	2	0	TMEM37	119911371	0.003000	0.15002	0.909000	0.35828	0.732000	0.41865	1.123000	0.31308	0.368000	0.24481	0.460000	0.39030	GTC		0.552	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2			7	363	0	0	0	0.004482	0	7	363					C	120194901	T	C	120194901	1	2	298	0	1	0	0	0	0	0	0	0	16155	1667	58	3		3	TMEM37	2	120194901	IGR	SNP	T	TCGA-EM-A2CR-01A-11D-A17V-08		120194901	123004472	2	6367											
MCF2L2	23101	broad.mit.edu	37	chr3	183041038	183041038	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacagtgcggtgatttacCcactgaccgtggcgatattc	10	12	1	2			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr3:183041038C>T	ENST00000328913.3	-	6	885	c.588G>A	c.(586-588)tgG>tgA	p.W196*	MCF2L2_ENST00000414362.2_Nonsense_Mutation_p.W196*|MCF2L2_ENST00000447025.2_Nonsense_Mutation_p.W196*|MCF2L2_ENST00000473233.1_Nonsense_Mutation_p.W196*	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	196							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GGTGATTTACCCACTGACCGT	0.502																																						ENST00000328913.3																			0				breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(586-588)tgG>tgA		MCF.2 cell line derived transforming sequence-like 2							125	120	122					3																	183041038		2203	4300	6503	SO:0001587	stop_gained	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:183041038C>T	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"Rho guanine nucleotide exchange factors"	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.588G>A	3.37:g.183041038C>T	ENSP00000328118:p.Trp196*					MCF2L2_ENST00000447025.2_Nonsense_Mutation_p.W196*|MCF2L2_ENST00000414362.2_Nonsense_Mutation_p.W196*|MCF2L2_ENST00000473233.1_Nonsense_Mutation_p.W196*	p.W196*	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		6	885	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		196					O94942|Q6P2B8|Q6ZVJ5|Q8N318	Nonsense_Mutation	SNP	ENST00000328913.3	37	c.588G>A	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	C	38	6.641408	0.97726	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000414362	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.2738	0.90077	0.0:1.0:0.0:0.0	.	.	.	.	X	196	.	ENSP00000328118:W196X	W	-	3	0	MCF2L2	184523732	1.000000	0.71417	0.974000	0.42286	0.802000	0.45316	5.429000	0.66495	2.610000	0.88304	0.655000	0.94253	TGG		0.502	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		4	96	0	0	0	0.009096	0	4	96					T	183041038	C	T	183041038	4	4	298	1	0	0	0	0	0	1	0	0	9380	624	22	2	2856	2	MCF2L2	3	183041038	Nonsense_Mutation	SNP	C	TCGA-EM-A2CR-01A-11D-A17V-08		183041038	14981392	3	6368											
CHRNA9	55584	broad.mit.edu	37	chr4	40351126	40351126	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggagatctctctgacttcaTtgaagatgtggaatgggagg	14	6	3	4			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr4:40351126T>C	ENST00000310169.2	+	4	732	c.593T>C	c.(592-594)aTt>aCt	p.I198T		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	198					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	TCTGACTTCATTGAAGATGTG	0.517																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)	ENST00000310169.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33						c.(592-594)aTt>aCt		cholinergic receptor, nicotinic, alpha 9 (neuronal)	Nicotine(DB00184)						225	196	206					4																	40351126		2203	4300	6503	SO:0001583	missense	55584				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	g.chr4:40351126T>C	AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	14079	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 9 (neuronal)"	605116	"cholinergic receptor, nicotinic, alpha polypeptide 9"				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.593T>C	4.37:g.40351126T>C	ENSP00000312663:p.Ile198Thr						p.I198T	NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN			4	732	+			198					Q14CY7|Q4W5A2|Q9NYV2	Missense_Mutation	SNP	ENST00000310169.2	37	c.593T>C	CCDS3459.1	.	.	.	.	.	.	.	.	.	.	T	19.92	3.916916	0.73098	.	.	ENSG00000174343	ENST00000310169	T	0.78481	-1.18	5.55	5.55	0.83447	Neurotransmitter-gated ion-channel ligand-binding (3);	0.228965	0.44483	D	0.000445	T	0.72277	0.3440	N	0.12961	0.28	0.48632	D	0.999689	P	0.42296	0.775	P	0.48873	0.593	T	0.75961	-0.3133	10	0.51188	T	0.08	.	15.6992	0.77528	0.0:0.0:0.0:1.0	.	198	Q9UGM1	ACHA9_HUMAN	T	198	ENSP00000312663:I198T	ENSP00000312663:I198T	I	+	2	0	CHRNA9	40045883	1.000000	0.71417	0.841000	0.33234	0.931000	0.56810	7.884000	0.87274	2.122000	0.65172	0.459000	0.35465	ATT		0.517	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1			6	191	0	0	0	0.001168	0	6	191					C	40351126	T	C	40351126	3	2	298	1	0	0	0	0	1	0	0	0	3389	1493	52	3	607	3	CHRNA9	4	40351126	Missense_Mutation	SNP	T	TCGA-EM-A2CR-01A-11D-A17V-08		40351126	150803150	4	6369											
CXCL13	10563	broad.mit.edu	37	chr4	78532142	78532142	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttttgtttctgcttcacagAagaagttcttcaactctacc	5	10	5	2			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr4:78532142A>T	ENST00000286758.4	+	5	357	c.279A>T	c.(277-279)aaA>aaT	p.K93N		NM_006419.2	NP_006410.1	O43927	CXL13_HUMAN	chemokine (C-X-C motif) ligand 13	93					activation of Rap GTPase activity (GO:0032861)|B cell chemotaxis (GO:0035754)|B cell chemotaxis across high endothelial venule (GO:0035769)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|chronic inflammatory response (GO:0002544)|defense response to bacterium (GO:0042742)|endothelial cell chemotaxis to fibroblast growth factor (GO:0035768)|germinal center formation (GO:0002467)|immune response (GO:0006955)|lymph node development (GO:0048535)|lymphocyte chemotaxis across high endothelial venule (GO:0002518)|negative regulation of endothelial cell chemotaxis to fibroblast growth factor (GO:2000545)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of integrin activation (GO:0033625)|positive regulation of T cell chemotaxis (GO:0010820)|regulation of angiogenesis (GO:0045765)|regulation of humoral immune response (GO:0002920)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR10 chemokine receptor binding (GO:0031735)|chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|CXCR5 chemokine receptor binding (GO:0031724)|fibroblast growth factor binding (GO:0017134)|heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|receptor agonist activity (GO:0048018)			large_intestine(1)|ovary(1)|skin(1)|urinary_tract(1)	4						TGCTTCACAGAAGAAGTTCTT	0.408																																						ENST00000286758.4																			0				large_intestine(1)|ovary(1)|skin(1)|urinary_tract(1)	4						c.e5-1		chemokine (C-X-C motif) ligand 13							152	160	158					4																	78532142		2203	4300	6503	SO:0001630	splice_region_variant	10563				activation of Rap GTPase activity|B cell chemotaxis|cell-cell signaling|chronic inflammatory response|defense response to bacterium|elevation of cytosolic calcium ion concentration|endothelial cell chemotaxis to fibroblast growth factor|germinal center formation|lymphocyte chemotaxis across high endothelial venule|negative regulation of apoptosis|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of integrin activation|positive regulation of T cell chemotaxis|regulation of angiogenesis|regulation of humoral immune response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|CXCR3 chemokine receptor binding|CXCR5 chemokine receptor binding|fibroblast growth factor 2 binding|heparin binding|protein heterodimerization activity|receptor agonist activity	g.chr4:78532142A>T	AJ002211	CCDS3582.1	4q21	2013-02-25	2008-08-29	2002-08-23	ENSG00000156234	ENSG00000156234		"Endogenous ligands"	10639	protein-coding gene	gene with protein product	"B-cell chemoattractant"	605149	"small inducible cytokine B subfamily (Cys-X-Cys motif), member 13 (B-cell chemoattractant)"	SCYB13		9463416, 9486651	Standard	NM_006419		Approved	BLC, BCA-1, BLR1L, ANGIE, ANGIE2	uc003hkr.3	O43927	OTTHUMG00000130201	ENST00000286758.4:c.279-1A>T	4.37:g.78532142A>T							p.K93_splice	NM_006419.2	NP_006410.1	O43927	CXL13_HUMAN			5	357	+			93						Splice_Site	SNP	ENST00000286758.4	37	c.278_splice	CCDS3582.1	.	.	.	.	.	.	.	.	.	.	A	11.61	1.690518	0.29962	.	.	ENSG00000156234	ENST00000286758	T	0.14893	2.47	4.63	-0.545	0.11843	Chemokine interleukin-8-like domain (1);	0.503050	0.21360	N	0.075801	T	0.11922	0.0290	L	0.45285	1.41	0.09310	N	1	P	0.41159	0.74	B	0.39185	0.293	T	0.16571	-1.0398	9	.	.	.	.	6.0869	0.19973	0.4996:0.3282:0.1722:0.0	.	93	O43927	CXL13_HUMAN	N	93	ENSP00000286758:K93N	.	K	+	3	2	CXCL13	78751166	0.001000	0.12720	0.003000	0.11579	0.036000	0.12997	-0.495000	0.06443	-0.335000	0.08451	-1.139000	0.01908	AAA		0.408	CXCL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252519.1		Missense_Mutation	46	74	0	0	0	0.011902	0	46	74					T	78532142	A	T	78532142	5	4	298	1	0	0	0	0	0	0	1	0	4081	260	9	5	293	5	CXCL13	4	78532142	Splice_Site	SNP	A	TCGA-EM-A2CR-01A-11D-A17V-08	38181016	78532142	112622134	5	6370											
PRB2	653247	broad.mit.edu	37	chr12	11546273	11546273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctggttgcctccttgtgGgggtggtccttgtggctttc	17	9	0	0			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr12:11546273G>A	ENST00000389362.4	-	3	774	c.739C>T	c.(739-741)Cca>Tca	p.P247S	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	247	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CCTCCTTGTGGGGGTGGTCCT	0.617																																						ENST00000389362.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(739-741)Cca>Tca		proline-rich protein BstNI subfamily 2							140	167	158					12																	11546273		2194	4287	6481	SO:0001583	missense	653247							g.chr12:11546273G>A	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.739C>T	12.37:g.11546273G>A	ENSP00000374013:p.Pro247Ser					PRB1_ENST00000546254.1_Intron	p.P247S	NM_006248.3	NP_006239.3			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	774	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	c.739C>T	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	4.359	0.066080	0.08388	.	.	ENSG00000121335	ENST00000389362	T	0.08634	3.07	1.63	-3.27	0.05048	.	.	.	.	.	T	0.07234	0.0183	M	0.62088	1.915	0.09310	N	1	B	0.23540	0.087	B	0.15870	0.014	T	0.36720	-0.9736	9	0.52906	T	0.07	.	0.4653	0.00523	0.3046:0.1879:0.3185:0.1889	.	247	P02812	PRB2_HUMAN	S	247	ENSP00000374013:P247S	ENSP00000374013:P247S	P	-	1	0	PRB2	11437540	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.110000	0.10824	-1.588000	0.01627	0.418000	0.28097	CCA		0.617	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		110	174	0	0	0	0.01441	0	110	174					A	11546273	G	A	11546273	3	1	298	1	0	0	0	0	1	0	0	0	12443	1232	43	2	515	2	PRB2	12	11546273	Missense_Mutation	SNP	G	TCGA-EM-A2CR-01A-11D-A17V-08		11546273	122305622	6	6371											
NEK8	284086	broad.mit.edu	37	chr17	27061954	27061954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatcctgcttgacaaacacCgcatggtcgtcaagatcggt	9	12	1	2			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr17:27061954C>T	ENST00000268766.6	+	3	452	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C	NEK8_ENST00000593261.1_3'UTR|AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	140	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.R140S(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					TGACAAACACCGCATGGTCGT	0.562																																					NSCLC(6;19 293 14866 25253 49845)	ENST00000268766.6																			1	Substitution - Missense(1)	p.R140S(1)	lung(1)	breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(418-420)Cgc>Tgc		NIMA-related kinase 8							251	201	218					17																	27061954		2203	4300	6503	SO:0001583	missense	284086					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:27061954C>T	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"NIMA (never in mitosis gene a)- related kinase 8"			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.418C>T	17.37:g.27061954C>T	ENSP00000268766:p.Arg140Cys					AC010761.6_ENST00000584779.1_RNA|NEK8_ENST00000593261.1_3'UTR	p.R140C	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN			3	452	+	Lung NSC(42;0.0158)		140			Protein kinase.		A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP	ENST00000268766.6	37	c.418C>T	CCDS32597.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.920714	0.73213	.	.	ENSG00000160602	ENST00000543014;ENST00000268766	T;T	0.24350	1.86;1.86	5.73	5.73	0.89815	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.064498	0.64402	D	0.000002	T	0.26122	0.0637	L	0.41492	1.28	0.80722	D	1	B	0.22003	0.063	B	0.17098	0.017	T	0.01848	-1.1261	10	0.45353	T	0.12	.	18.8738	0.92327	0.0:1.0:0.0:0.0	.	140	Q86SG6	NEK8_HUMAN	C	140	ENSP00000465859:R140C;ENSP00000268766:R140C	ENSP00000268766:R140C	R	+	1	0	NEK8	24086081	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	7.488000	0.81441	2.709000	0.92574	0.491000	0.48974	CGC		0.562	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2			68	114	0	0	0	0.01441	0	68	114					T	27061954	C	T	27061954	3	4	298	1	0	0	0	0	1	0	0	0	10330	652	23	1	428	1	NEK8	17	27061954	Missense_Mutation	SNP	C	TCGA-EM-A2CR-01A-11D-A17V-08		27061954	54133256	7	6372											
TMEM49	81671	broad.mit.edu	37	chr17	57842412	57842412	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gaaccaccctatcctgatcaGattatttgtccagatgaaga	7	10	1	5			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr17:57842412G>C	ENST00000262291.4	+	6	805	c.495G>C	c.(493-495)caG>caC	p.Q165H	VMP1_ENST00000539763.1_5'UTR|VMP1_ENST00000537567.1_Missense_Mutation_p.Q31H|VMP1_ENST00000536180.1_Missense_Mutation_p.Q68H|VMP1_ENST00000545362.1_Intron	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	165					autophagy (GO:0006914)|cell junction assembly (GO:0034329)|embryo implantation (GO:0007566)|regulation of autophagy (GO:0010506)|single organismal cell-cell adhesion (GO:0016337)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|pre-autophagosomal structure (GO:0000407)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						ATCCTGATCAGATTATTTGTC	0.388																																						ENST00000262291.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						c.(493-495)caG>caC		vacuole membrane protein 1							137	129	131					17																	57842412		2203	4300	6503	SO:0001583	missense	81671				autophagy|cell adhesion	endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane		g.chr17:57842412G>C		CCDS11619.1	17q23.1	2014-05-20	2011-03-02	2011-03-02	ENSG00000062716	ENSG00000062716			29559	protein-coding gene	gene with protein product	"ectopic P-granules autophagy protein 3 homolog (C. elegans)", "transport and golgi organization 5 homolog (Drosophila)"	611753	"transmembrane protein 49"	TMEM49		11230166, 11785947	Standard	NM_030938		Approved	EPG3, TANGO5	uc002ixu.4	Q96GC9	OTTHUMG00000179882	ENST00000262291.4:c.495G>C	17.37:g.57842412G>C	ENSP00000262291:p.Gln165His					VMP1_ENST00000545362.1_Intron|VMP1_ENST00000539763.1_5'UTR|VMP1_ENST00000537567.1_Missense_Mutation_p.Q31H|VMP1_ENST00000536180.1_Missense_Mutation_p.Q68H	p.Q165H	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN			6	805	+			165					B4DVV9|Q9H0P4|Q9P089	Missense_Mutation	SNP	ENST00000262291.4	37	c.495G>C	CCDS11619.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854750	0.51376	.	.	ENSG00000062716	ENST00000262291;ENST00000537567;ENST00000536180	T;T;T	0.42513	0.97;0.97;0.97	6.06	4.07	0.47477	.	0.112825	0.64402	D	0.000008	T	0.54615	0.1869	M	0.74881	2.28	0.80722	D	1	P;P;P	0.47484	0.742;0.755;0.896	P;B;P	0.56127	0.482;0.367;0.792	T	0.51624	-0.8682	10	0.33141	T	0.24	-7.442	9.4166	0.38525	0.3221:0.0:0.6779:0.0	.	31;68;165	B4DED7;B4DGZ7;Q96GC9	.;.;VMP1_HUMAN	H	165;31;68	ENSP00000262291:Q165H;ENSP00000445130:Q31H;ENSP00000444969:Q68H	ENSP00000262291:Q165H	Q	+	3	2	VMP1	55197194	0.964000	0.33143	1.000000	0.80357	0.999000	0.98932	0.068000	0.14531	0.885000	0.36088	0.650000	0.86243	CAG		0.388	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448793.1	NM_030938		3	65	0	0	0	0.004672	0	3	65					C	57842412	G	C	57842412	3	2	298	1	0	0	0	0	1	0	0	0	16170	933	33	4	513	4	TMEM49	17	57842412	Missense_Mutation	SNP	G	TCGA-EM-A2CR-01A-11D-A17V-08	30780458	57842412	23352798	8	6373											
RAB37	326624	broad.mit.edu	37	chr17	72725494	72725494	+	Frame_Shift_Del	DEL	A	A	-													ccttctcggccactgtgggcAtcggattcacggtaagcact							TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr17:72725494delA	ENST00000340415.3	+	2	1181	c.172delA	c.(172-174)atcfs	p.I58fs	RAB37_ENST00000402449.4_Frame_Shift_Del_p.I58fs	NM_175738.4	NP_783865.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	65					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|secretory granule (GO:0030141)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						CACTGTGGGCATCGGATTCAC	0.607																																						ENST00000340415.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						c.(172-174)tcfs		RAB37, member RAS oncogene family							149	124	132					17																	72725494		2203	4300	6503	SO:0001589	frameshift_variant	326624				protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding	g.chr17:72725494delA	BC040547	CCDS11703.1, CCDS32722.1, CCDS54161.1, CCDS54162.1	17q25.2	2008-02-05			ENSG00000172794	ENSG00000172794		"RAB, member RAS oncogene"	30268	protein-coding gene	gene with protein product		609956				10722846	Standard	NM_175738		Approved		uc002jlk.3	Q96AX2	OTTHUMG00000134282	ENST00000340415.3:c.172delA	17.37:g.72725494delA	ENSP00000341354:p.Ile58fs					RAB37_ENST00000402449.4_Frame_Shift_Del_p.I58fs	p.I58fs	NM_175738.4	NP_783865.1	Q96AX2	RAB37_HUMAN			2	1181	+			65					A8MXF5|A8MYT0|Q8IWA7	Frame_Shift_Del	DEL	ENST00000340415.3	37	c.172delA																																																																																					0.607	RAB37-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000258876.2	NM_175738		60	100						60	100	---	---	---	---	-	72725494	A	-	72725494	7	5	298	1	0	1	0	1	0	0	0	0	12927	217	8	0	178	0	RAB37	17	72725494	Frame_Shift_Del	DEL	A	TCGA-EM-A2CR-01A-11D-A17V-08	14883082	72725494	8469716	9	6374											
MUC16	94025	broad.mit.edu	37	chr19	9084433	9084433	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggctaatagggccgagcttGtctcgacagggtgggtgatt	16	7	1	1	rs375652147		TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr19:9084433G>T	ENST00000397910.4	-	1	7585	c.7382C>A	c.(7381-7383)aCa>aAa	p.T2461K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2461	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCCGAGCTTGTCTCGACAGG	0.507																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(7381-7383)aCa>aAa		mucin 16, cell surface associated							63	67	65					19																	9084433		2180	4287	6467	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9084433G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.7382C>A	19.37:g.9084433G>T	ENSP00000381008:p.Thr2461Lys						p.T2461K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	7585	-			2461			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.7382C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	1.773	-0.483988	0.04383	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	0.225	0.225	0.15325	.	.	.	.	.	T	0.03959	0.0111	N	0.08118	0	.	.	.	D	0.54772	0.968	P	0.61874	0.895	T	0.45556	-0.9253	7	0.87932	D	0	.	.	.	.	.	2461	B5ME49	.	K	2461	ENSP00000381008:T2461K	ENSP00000381008:T2461K	T	-	2	0	MUC16	8945433	0.023000	0.18921	0.116000	0.21606	0.118000	0.20060	0.562000	0.23531	0.300000	0.22699	0.305000	0.20034	ACA		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		13	38	1	0	4.3838e-07	0.001855	1.26357e-06	13	38					T	9084433	G	T	9084433	3	4	298	1	0	0	0	0	1	0	0	0	9973	1377	48	4	36477	4	MUC16	19	9084433	Missense_Mutation	SNP	G	TCGA-EM-A2CR-01A-11D-A17V-08		9084433	50044550	10	6375											
ZNF155	7711	broad.mit.edu	37	chr19	44500960	44500960	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggagaaaaaccatttagGtgtgatacatgtgataagag	11	4	0	4			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr19:44500960G>A	ENST00000270014.2	+	5	1079	c.951G>A	c.(949-951)agG>agA	p.R317R	ZNF155_ENST00000407951.2_Silent_p.R328R|RP11-15A1.7_ENST00000589021.1_RNA|RP11-15A1.7_ENST00000586860.1_RNA|ZNF155_ENST00000590615.1_Silent_p.R317R	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	317					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(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				AACCATTTAGGTGTGATACAT	0.413																																					NSCLC(61;554 1277 20909 42067 42312)	ENST00000270014.2																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15						c.(949-951)agG>agA		zinc finger protein 155							120	115	117					19																	44500960		2203	4300	6503	SO:0001819	synonymous_variant	7711					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44500960G>A	U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920		"Zinc fingers, C2H2-type", "-"	12940	protein-coding gene	gene with protein product		604086	"zinc finger protein 155 (pHZ-96)"			7557990	Standard	NM_001260486		Approved	pHZ-96	uc010xwt.2	Q12901		ENST00000270014.2:c.951G>A	19.37:g.44500960G>A						ZNF155_ENST00000590615.1_Silent_p.R317R|ZNF155_ENST00000407951.2_Silent_p.R328R	p.R317R	NM_001260487.1|NM_198089.2	NP_001247416.1|NP_932355.2	Q12901	ZN155_HUMAN			5	1079	+		Prostate(69;0.0352)	317					A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14	Silent	SNP	ENST00000270014.2	37	c.951G>A	CCDS12634.1	.	.	.	.	.	.	.	.	.	.	G	2.420	-0.333418	0.05278	.	.	ENSG00000204920	ENST00000425747	.	.	.	2.59	-1.15	0.09709	.	.	.	.	.	T	0.40196	0.1107	.	.	.	0.52099	D	0.999948	.	.	.	.	.	.	T	0.16778	-1.0391	5	0.23891	T	0.37	.	3.3584	0.07177	0.4622:0.0:0.3564:0.1815	.	.	.	.	D	191	.	ENSP00000401576:G191D	G	+	2	0	ZNF155	49192800	0.000000	0.05858	0.005000	0.12908	0.038000	0.13279	-4.935000	0.00168	-0.471000	0.06891	-0.379000	0.06801	GGT		0.413	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460074.1	NM_003445		5	104	0	0	0	0.000602	0	5	104					A	44500960	G	A	44500960	2	1	298	1	0	0	0	0	0	0	0	1	17733	1252	44	2		2	ZNF155	19	44500960	Silent	SNP	G	TCGA-EM-A2CR-01A-11D-A17V-08	35416527	44500960	14628023	11	6376											
SIRPB1	10326	broad.mit.edu	37	chr20	1551539	1551539	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgctgcccatcatgctcCacctgacaggtgagcaccac	9	16	1	2			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr20:1551539C>T	ENST00000381605.4	-	4	1060	c.996G>A	c.(994-996)gtG>gtA	p.V332V	SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000262929.5_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	332	Ig-like C1-type 2.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CATCATGCTCCACCTGACAGG	0.562																																						ENST00000381605.4																			0				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(994-996)gtG>gtA		signal-regulatory protein beta 1							204	177	186					20																	1551539		2203	4300	6503	SO:0001819	synonymous_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1551539C>T	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.996G>A	20.37:g.1551539C>T						SIRPB1_ENST00000262929.5_Intron|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron	p.V332V	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN			4	1060	-			332			Ig-like C1-type 2.		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Silent	SNP	ENST00000381605.4	37	c.996G>A	CCDS13019.1																																																																																				0.562	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		55	96	0	0	0	0.01441	0	55	96					T	1551539	C	T	1551539	2	4	298	1	0	0	0	0	0	0	0	1	14333	581	21	2		2	SIRPB1	20	1551539	Silent	SNP	C	TCGA-EM-A2CR-01A-11D-A17V-08		1551539	61473981	12	6377											
DGCR8	54487	broad.mit.edu	37	chr22	20079439	20079439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgaggtctgcatcctgcacGagtacatgcagcgtgtcctc	11	14	1	0			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr22:20079439G>A	ENST00000351989.3	+	7	1981	c.1552G>A	c.(1552-1554)Gag>Aag	p.E518K	DGCR8_ENST00000407755.1_Missense_Mutation_p.E518K|DGCR8_ENST00000383024.2_Missense_Mutation_p.E518K	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	518	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					CATCCTGCACGAGTACATGCA	0.463																																						ENST00000351989.3																			0				NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1552-1554)Gag>Aag		DGCR8 microprocessor complex subunit							128	114	119					22																	20079439		2203	4300	6503	SO:0001583	missense	54487				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20079439G>A	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"chromosome 22 open reading frame 12", "DiGeorge syndrome critical region gene 8"	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.1552G>A	22.37:g.20079439G>A	ENSP00000263209:p.Glu518Lys					DGCR8_ENST00000407755.1_Missense_Mutation_p.E518K|DGCR8_ENST00000383024.2_Missense_Mutation_p.E518K	p.E518K	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN			7	1981	+	Colorectal(54;0.0993)		518			DRBM 1.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	c.1552G>A	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	G	35	5.425213	0.96131	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	D;T;T	0.82344	-1.6;-0.79;-0.79	5.1	4.05	0.47172	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.91123	0.7205	M	0.85099	2.735	0.80722	D	1	B;D	0.89917	0.189;1.0	B;D	0.91635	0.046;0.999	D	0.92124	0.5706	10	0.87932	D	0	-23.0849	13.8046	0.63223	0.0768:0.0:0.9232:0.0	.	518;518	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	K	518	ENSP00000263209:E518K;ENSP00000372488:E518K;ENSP00000384726:E518K	ENSP00000263209:E518K	E	+	1	0	DGCR8	18459439	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.642000	0.83385	2.634000	0.89283	0.591000	0.81541	GAG		0.463	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			26	8	0	0	0	0.005443	0	26	8					A	20079439	G	A	20079439	3	1	298	1	0	0	0	0	1	0	0	0	4464	1059	37	1	1574	1	DGCR8	22	20079439	Missense_Mutation	SNP	G	TCGA-EM-A2CR-01A-11D-A17V-08		20079439	31225127	13	6378											
MAGEC2	51438	broad.mit.edu	37	chrX	141291129	141291129	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcatcactaccctcatcGgtgaggcctactgtgtttgc	8	13	4	1			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chrX:141291129G>A	ENST00000247452.3	-	3	992	c.645C>T	c.(643-645)acC>acT	p.T215T		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	215	Interaction with TRIM28.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TACCCTCATCGGTGAGGCCTA	0.507										HNSCC(46;0.14)																												ENST00000247452.3																			0				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47						c.(643-645)acC>acT		melanoma antigen family C, 2							107	98	101					X																	141291129		2203	4300	6503	SO:0001819	synonymous_variant	51438					cytoplasm|nucleus		g.chrX:141291129G>A	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"cancer/testis antigen 10"	300468	"melanoma antigen, family E, 1, cancer/testis specific"	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.645C>T	X.37:g.141291129G>A		HNSCC(46;0.14)					p.T215T	NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN			3	992	-	Acute lymphoblastic leukemia(192;6.56e-05)		215			MAGE.		Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Silent	SNP	ENST00000247452.3	37	c.645C>T	CCDS14678.1																																																																																				0.507	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		84	133	0	0	0	0.01441	0	84	133					A	141291129	G	A	141291129	2	1	298	1	0	0	0	0	0	0	0	1	9181	1103	39	1		1	MAGEC2	23	141291129	Silent	SNP	G	TCGA-EM-A2CR-01A-11D-A17V-08		141291129	13979431	14	6379											
SLC27A3	11000	broad.mit.edu	37	chr1	153750999	153750999	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caggagagccaattcgggacCcccaggggcactgtatggcc	14	13	0	1			TCGA-EM-A2CS-01A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55ab2585-c937-4a29-9caf-62daf8fccc5d	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr1:153750999C>G	ENST00000368661.3	+	6	1623	c.1558C>G	c.(1558-1560)Ccc>Gcc	p.P520A	SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000271857.2_Missense_Mutation_p.P601A	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	520					fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AATTCGGGACCCCCAGGGGCA	0.577																																						ENST00000271857.2																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						c.(1801-1803)Ccc>Gcc		solute carrier family 27 (fatty acid transporter), member 3							107	108	108					1																	153750999		2203	4300	6503	SO:0001583	missense	11000				fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding	g.chr1:153750999C>G	BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"Acyl-CoA synthetase family", "Solute carriers"	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155	ENST00000368661.3:c.1558C>G	1.37:g.153750999C>G	ENSP00000357650:p.Pro520Ala					SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000368661.3_Missense_Mutation_p.P520A	p.P601A			Q5K4L6	S27A3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		6	2561	+	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		520					Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Missense_Mutation	SNP	ENST00000368661.3	37	c.1801C>G	CCDS1053.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.318071	0.00235	.	.	ENSG00000143554	ENST00000271857;ENST00000368661;ENST00000532853	T;T;T	0.46063	2.72;2.72;0.88	5.01	-3.96	0.04106	AMP-dependent synthetase/ligase (1);	1.071620	0.07225	N	0.861444	T	0.05502	0.0145	N	0.05592	-0.015	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.31696	-0.9934	10	0.15066	T	0.55	-1.2619	6.1815	0.20474	0.2833:0.3715:0.3451:0.0	.	520	Q5K4L6	S27A3_HUMAN	A	601;520;74	ENSP00000271857:P601A;ENSP00000357650:P520A;ENSP00000433959:P74A	ENSP00000271857:P601A	P	+	1	0	SLC27A3	152017623	0.000000	0.05858	0.001000	0.08648	0.116000	0.19942	-0.593000	0.05740	-1.039000	0.03275	-0.539000	0.04255	CCC		0.577	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_024330		8	104	0	0	0	1	0	8	104					G	153750999	C	G	153750999	3	3	299	1	0	0	0	0	1	0	0	0	14527	623	22	4	1580	4	SLC27A3	1	153750999	Missense_Mutation	SNP	C	TCGA-EM-A2CS-01A-11D-A19J-08		153750999	95499622	1	6380											
C2orf15	80705	broad.mit.edu	37	chr2	99767210	99767210	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttacaaggattgaagggacTggcacaggatctctttctgg	12	7	2	1			TCGA-EM-A2CS-01A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55ab2585-c937-4a29-9caf-62daf8fccc5d	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr2:99767210T>C	ENST00000393483.3	-	1	225				C2ORF15_ENST00000409684.1_Silent_p.T97T|C2ORF15_ENST00000302513.2_Silent_p.T97T	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10						cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TTGAAGGGACTGGCACAGGAT	0.388																																						ENST00000302513.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(1)	6						c.(289-291)acT>acC		chromosome 2 open reading frame 15							93	96	95					2																	99767210		2203	4300	6503	SO:0001627	intron_variant	150590							g.chr2:99767210T>C	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"cancer/testis antigen 79"	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.619+3945A>G	2.37:g.99767210T>C						TSGA10_ENST00000393483.3_Intron|C2orf15_ENST00000409684.1_Silent_p.T97T	p.T97T	NM_144706.2	NP_653307.1	Q8WU43	CB015_HUMAN			4	927	+			97					B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Silent	SNP	ENST00000393483.3	37	c.291T>C	CCDS2037.1																																																																																				0.388	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911		10	92	0	0	0	1	0	10	92					C	99767210	T	C	99767210	1	2	299	0	1	0	0	0	0	0	0	0	2156	1567	55	3		3	C2orf15	2	99767210	Intron	SNP	T	TCGA-EM-A2CS-01A-11D-A19J-08		99767210	143432163	2	6381											
RGPD4	285190	broad.mit.edu	37	chr2	108488523	108488523	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagtggtgaggaaaatgaaAaagttgtttttagtcacagg	12	4	1	2			TCGA-EM-A2CS-01A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55ab2585-c937-4a29-9caf-62daf8fccc5d	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr2:108488523A>G	ENST00000408999.3	+	20	4140	c.4063A>G	c.(4063-4065)Aaa>Gaa	p.K1355E	RGPD4_ENST00000354986.4_Missense_Mutation_p.K1355E	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1355	RanBD1 2. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GGAAAATGAAAAAGTTGTTTT	0.363																																						ENST00000408999.3																			0				breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						c.(4063-4065)Aaa>Gaa		RANBP2-like and GRIP domain containing 4							46	32	37					2																	108488523		692	1590	2282	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108488523A>G	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.4063A>G	2.37:g.108488523A>G	ENSP00000386810:p.Lys1355Glu					RGPD4_ENST00000354986.4_Missense_Mutation_p.K1355E	p.K1355E	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN			20	4140	+			1355			RanBD1 2.		B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.4063A>G	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	0.006	-2.076809	0.00375	.	.	ENSG00000196862	ENST00000354986;ENST00000408999	T;T	0.38240	1.15;1.15	2.33	2.33	0.28932	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.09379	0.0231	N	0.00514	-1.41	0.21445	N	0.999688	B	0.09022	0.002	B	0.11329	0.006	T	0.33059	-0.9883	9	0.02654	T	1	-15.6262	9.1598	0.37016	0.2196:0.7804:0.0:0.0	.	1355	Q7Z3J3	RGPD4_HUMAN	E	1355	ENSP00000347081:K1355E;ENSP00000386810:K1355E	ENSP00000347081:K1355E	K	+	1	0	RGPD4	107854955	1.000000	0.71417	1.000000	0.80357	0.363000	0.29612	3.773000	0.55333	0.317000	0.23160	-2.054000	0.00404	AAA		0.363	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		27	184	0	0	0	1	0	27	184					G	108488523	A	G	108488523	3	3	299	1	0	0	0	0	1	0	0	0	13288	15	1	3	4141	3	RGPD4	2	108488523	Missense_Mutation	SNP	A	TCGA-EM-A2CS-01A-11D-A19J-08	8721313	108488523	134710850	3	6382											
GRB14	2888	broad.mit.edu	37	chr2	165365287	165365288	+	Frame_Shift_Ins	INS	-	-	T													tagttagtcggtgctccatgINStttttttttgcctgccagtg							TCGA-EM-A2CS-01A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55ab2585-c937-4a29-9caf-62daf8fccc5d	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr2:165365287_165365288insT	ENST00000263915.3	-	7	1429_1430	c.891_892insA	c.(889-894)aaacatfs	p.H298fs	GRB14_ENST00000543549.1_Frame_Shift_Ins_p.H211fs	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	298	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.K297fs*23(2)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						GGTGCTCCATGTTTTTTTTTGC	0.371																																						ENST00000263915.3																			2	Deletion - Frameshift(2)	p.K297fs*23(2)	ovary(1)|breast(1)	breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(889-894)aaatggfs		growth factor receptor-bound protein 14																																				SO:0001589	frameshift_variant	2888				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	g.chr2:165365287_165365288insT		CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.892dupA	2.37:g.165365296_165365296dupT	ENSP00000263915:p.His298fs					GRB14_ENST00000543549.1_Frame_Shift_Ins_p.W211fs	p.W298fs	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN			7	1429_1430	-			298			PH.		B7Z7F9|Q7Z6I1	Frame_Shift_Ins	INS	ENST00000263915.3	37	c.891_892insA	CCDS2222.1																																																																																				0.371	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2			9	137						9	137	---	---	---	---	T	165365288	-	T	165365287	7	5	299	1	0	1	1	0	0	0	0	0	6757	1377	48	0	762	0	GRB14	2	165365287	Frame_Shift_Ins	INS	-	TCGA-EM-A2CS-01A-11D-A19J-08	56876764	165365287	77834086	4	6383											
KIAA2018	205717	broad.mit.edu	37	chr3	113374352	113374352	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaaccaaaattttgtgaTagtgtatgctggtcaggacc	10	6	1	1			TCGA-EM-A2CS-01A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55ab2585-c937-4a29-9caf-62daf8fccc5d	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr3:113374352T>C	ENST00000478658.1	-	5	6194	c.6177A>G	c.(6175-6177)ctA>ctG	p.L2059L	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Silent_p.L2059L			Q68DE3	K2018_HUMAN	KIAA2018	2059						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						AATTTTGTGATAGTGTATGCT	0.418																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(6175-6177)ctA>ctG		KIAA2018							79	79	79					3																	113374352		1923	4117	6040	SO:0001819	synonymous_variant	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113374352T>C	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.6177A>G	3.37:g.113374352T>C						KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Silent_p.L2059L	p.L2059L	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	6587	-			2059					Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	ENST00000478658.1	37	c.6177A>G	CCDS43133.1																																																																																				0.418	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		5	103	0	0	0	1	0	5	103					C	113374352	T	C	113374352	2	2	299	1	0	0	0	0	0	0	0	1	8268	1393	49	3		3	KIAA2018	3	113374352	Silent	SNP	T	TCGA-EM-A2CS-01A-11D-A19J-08		113374352	84648078	5	6384											
SENP2	59343	broad.mit.edu	37	chr3	185327074	185327074	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagagaagtaccgaaagttaTtggaacgacttaaagaaagt	11	4	0	2			TCGA-EM-A2CS-01A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55ab2585-c937-4a29-9caf-62daf8fccc5d	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr3:185327074T>C	ENST00000296257.5	+	7	898	c.658T>C	c.(658-660)Ttg>Ctg	p.L220L	SENP2_ENST00000545472.1_Silent_p.L210L|SENP2_ENST00000427465.2_Silent_p.L44L	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	220					cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CCGAAAGTTATTGGAACGACT	0.358																																						ENST00000296257.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12						c.(658-660)Ttg>Ctg		SUMO1/sentrin/SMT3 specific peptidase 2							114	115	115					3																	185327074		2203	4300	6503	SO:0001819	synonymous_variant	59343				mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity	g.chr3:185327074T>C	AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"SUMO1/sentrin/SMT3 specific protease 2"			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.658T>C	3.37:g.185327074T>C						SENP2_ENST00000545472.1_Silent_p.L210L|SENP2_ENST00000427465.2_Silent_p.L44L	p.L220L	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		7	898	+	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		220					B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Silent	SNP	ENST00000296257.5	37	c.658T>C	CCDS33902.1																																																																																				0.358	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345159.1	NM_021627		35	55	0	0	0	1	0	35	55					C	185327074	T	C	185327074	2	2	299	1	0	0	0	0	0	0	0	1	14047	1490	52	3		3	SENP2	3	185327074	Silent	SNP	T	TCGA-EM-A2CS-01A-11D-A19J-08	71952722	185327074	12695356	6	6385											
RAPGEF6	51735	broad.mit.edu	37	chr5	130846180	130846180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctcctacctcactctccGtagcctatgaaaagaaatct	4	14	4	2			TCGA-EM-A2CS-01A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55ab2585-c937-4a29-9caf-62daf8fccc5d	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr5:130846180G>A	ENST00000509018.1	-	8	837	c.632C>T	c.(631-633)aCg>aTg	p.T211M	RAPGEF6_ENST00000296859.6_Missense_Mutation_p.T211M|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.T211M|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.T211M|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.T211M|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.T211M|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.T261M|RAPGEF6_ENST00000512052.1_5'Flank	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	211					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CTCACTCTCCGTAGCCTATGA	0.368																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(631-633)aCg>aTg		Rap guanine nucleotide exchange factor (GEF) 6							98	93	95					5																	130846180		2203	4300	6503	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130846180G>A	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"PDZ domain containing guanine nucleotide exchange factor (GEF) 2"	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.632C>T	5.37:g.130846180G>A	ENSP00000421684:p.Thr211Met					RAPGEF6_ENST00000308008.6_Missense_Mutation_p.T211M|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.T211M|FNIP1_ENST00000514667.1_Missense_Mutation_p.T261M|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.T211M|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.T211M|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.T211M	p.T211M	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	8	837	-			211					A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.632C>T	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.651775	0.88056	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000308008;ENST00000510071;ENST00000513227;ENST00000504575;ENST00000504039;ENST00000514667	T;T;T;T;T;T;T;T	0.47869	1.77;1.69;1.69;1.77;1.61;2.17;0.83;1.87	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.69097	0.3073	M	0.65975	2.015	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.99;0.997;0.996;0.997;0.998;0.997	T	0.71444	-0.4591	10	0.87932	D	0	.	19.359	0.94428	0.0:0.0:1.0:0.0	.	211;211;211;261;211;211	A3KN82;B7ZML2;Q8TEU7-2;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;RPGF6_HUMAN	M	211;211;211;211;211;211;211;39;64;64;261	ENSP00000421684:T211M;ENSP00000309298:T211M;ENSP00000426081:T211M;ENSP00000296859:T211M;ENSP00000311419:T211M;ENSP00000425389:T211M;ENSP00000424574:T39M;ENSP00000426948:T261M	ENSP00000426948:T261M	T	-	2	0	RAPGEF6;FNIP1	130874079	1.000000	0.71417	0.995000	0.50966	0.850000	0.48378	9.813000	0.99286	2.657000	0.90304	0.563000	0.77884	ACG		0.368	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		6	75	0	0	0	1	0	6	75					A	130846180	G	A	130846180	3	1	299	1	0	0	0	0	1	0	0	0	13048	1145	40	1	4743	1	RAPGEF6	5	130846180	Missense_Mutation	SNP	G	TCGA-EM-A2CS-01A-11D-A19J-08		130846180	50069080	7	6386											
PURA	5813	broad.mit.edu	37	chr5	139494097	139494098	+	Frame_Shift_Ins	INS	-	-	A													gtcagtggccgtggagttccINSgcgactacctgggcgacttc							TCGA-EM-A2CS-01A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55ab2585-c937-4a29-9caf-62daf8fccc5d	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr5:139494097_139494098insA	ENST00000331327.3	+	1	390_391	c.331_332insA	c.(331-333)cgcfs	p.R111fs		NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	purine-rich element binding protein A	111					DNA replication initiation (GO:0006270)|DNA unwinding involved in DNA replication (GO:0006268)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|DNA replication factor A complex (GO:0005662)|neuronal cell body (GO:0043025)|nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)	double-stranded telomeric DNA binding (GO:0003691)|poly(A) RNA binding (GO:0044822)|purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGAGTTCCGCGACTACCTG	0.688																																						ENST00000331327.3																			0				central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						c.(331-333)cgafs		purine-rich element binding protein A																																				SO:0001589	frameshift_variant	5813				DNA unwinding involved in replication|DNA-dependent DNA replication initiation	DNA replication factor A complex	double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding	g.chr5:139494097_139494098insA	BC036087	CCDS4220.1	5q31	2008-02-05			ENSG00000185129	ENSG00000185129			9701	protein-coding gene	gene with protein product		600473				1448097	Standard	NM_005859		Approved	PURALPHA, PUR1, PUR-ALPHA	uc003lfa.3	Q00577	OTTHUMG00000129242	Exception_encountered	5.37:g.139494097_139494098insA	ENSP00000332706:p.Arg111fs						p.R111fs	NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	390_391	+			111						Frame_Shift_Ins	INS	ENST00000331327.3	37	c.331_332insA	CCDS4220.1																																																																																				0.688	PURA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251341.3	NM_005859		7	13						7	13	---	---	---	---	A	139494098	-	A	139494097	7	5	299	1	0	1	1	0	0	0	0	0	12827	652	23	0	333	0	PURA	5	139494097	Frame_Shift_Ins	INS	-	TCGA-EM-A2CS-01A-11D-A19J-08	8647917	139494097	41421163	8	6387											
NOTCH4	4855	broad.mit.edu	37	chr6	32163439	32163439	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actccgtatcttcctcgcatTatcgcagggttgggccgagg	12	12	1	0			TCGA-EM-A2CS-01A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55ab2585-c937-4a29-9caf-62daf8fccc5d	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr6:32163439T>A	ENST00000375023.3	-	30	5925	c.5787A>T	c.(5785-5787)atA>atT	p.I1929I	GPSM3_ENST00000375040.3_5'Flank|GPSM3_ENST00000375043.3_5'Flank|NOTCH4_ENST00000443903.2_3'UTR|GPSM3_ENST00000487761.1_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1929					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TTCCTCGCATTATCGCAGGGT	0.667																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(5785-5787)atA>atT		notch 4							69	72	71					6																	32163439		1510	2707	4217	SO:0001819	synonymous_variant	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32163439T>A		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.5787A>T	6.37:g.32163439T>A						NOTCH4_ENST00000443903.2_3'UTR	p.I1929I	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			30	5925	-			1929					B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	37	c.5787A>T	CCDS34420.1																																																																																				0.667	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			11	89	0	0	0	1	0	11	89					A	32163439	T	A	32163439	2	1	299	1	0	0	0	0	0	0	0	1	10551	1744	61	5		5	NOTCH4	6	32163439	Silent	SNP	T	TCGA-EM-A2CS-01A-11D-A19J-08		32163439	138951628	9	6388											
ACTL6B	51412	broad.mit.edu	37	chr7	100244387	100244387	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctcaccgggcgaatatcaAtgtcacacatgccgatgctg	10	13	3	0			TCGA-EM-A2CS-01A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55ab2585-c937-4a29-9caf-62daf8fccc5d	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr7:100244387A>G	ENST00000160382.5	-	11	1110	c.1004T>C	c.(1003-1005)aTt>aCt	p.I335T		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	335					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|nervous system development (GO:0007399)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	structural constituent of cytoskeleton (GO:0005200)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GCGAATATCAATGTCACACAT	0.667																																						ENST00000160382.5																			0				endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13						c.(1003-1005)aTt>aCt		actin-like 6B							50	48	49					7																	100244387		2203	4300	6503	SO:0001583	missense	51412				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton	g.chr7:100244387A>G	AB015906	CCDS5702.1	7q22	2008-02-01	2004-07-12	2004-07-14	ENSG00000077080	ENSG00000077080			160	protein-coding gene	gene with protein product		612458	"actin-like 6"	ACTL6		9799793	Standard	NM_016188		Approved	BAF53B	uc003uvy.3	O94805	OTTHUMG00000159661	ENST00000160382.5:c.1004T>C	7.37:g.100244387A>G	ENSP00000160382:p.Ile335Thr						p.I335T	NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN			11	1110	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		335					A4D2D0|O75421	Missense_Mutation	SNP	ENST00000160382.5	37	c.1004T>C	CCDS5702.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.169330	0.38315	.	.	ENSG00000077080	ENST00000160382	D	0.94576	-3.46	5.56	3.07	0.35406	.	0.067694	0.53938	D	0.000049	D	0.92805	0.7712	M	0.77486	2.375	0.49582	D	0.9998	B	0.29378	0.243	B	0.27262	0.078	D	0.89118	0.3501	10	0.87932	D	0	.	9.1934	0.37213	0.7132:0.0:0.0:0.2868	.	335	O94805	ACL6B_HUMAN	T	335	ENSP00000160382:I335T	ENSP00000160382:I335T	I	-	2	0	ACTL6B	100082323	1.000000	0.71417	0.912000	0.35992	0.954000	0.61252	8.637000	0.91014	0.347000	0.23924	0.533000	0.62120	ATT		0.667	ACTL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356745.1	NM_016188		5	49	0	0	0	1	0	5	49					G	100244387	A	G	100244387	3	3	299	1	0	0	0	0	1	0	0	0	199	101	4	3	292	3	ACTL6B	7	100244387	Missense_Mutation	SNP	A	TCGA-EM-A2CS-01A-11D-A19J-08		100244387	58894276	10	6389											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A2CS-01A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55ab2585-c937-4a29-9caf-62daf8fccc5d	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		33	50	0	0	0	1	0	33	50					T	140453136	A	T	140453136	3	4	299	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A2CS-01A-11D-A19J-08	40208749	140453136	18685527	11	6390											
TEAD1	7003	broad.mit.edu	37	chr11	12785928	12785928	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaggaggccctggctatctAtccaccatgtgggaggagga	14	10	2	0			TCGA-EM-A2CS-01A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55ab2585-c937-4a29-9caf-62daf8fccc5d	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr11:12785928A>G	ENST00000527575.1	+	2	262	c.149A>G	c.(148-150)tAt>tGt	p.Y50C	TEAD1_ENST00000361905.4_Missense_Mutation_p.Y35C|TEAD1_ENST00000361985.2_Missense_Mutation_p.Y50C|TEAD1_ENST00000527636.1_Missense_Mutation_p.Y50C|TEAD1_ENST00000334310.6_Missense_Mutation_p.Y35C			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	50					gene expression (GO:0010467)|hippo signaling (GO:0035329)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CTGGCTATCTATCCACCATGT	0.478																																						ENST00000361905.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17						c.(103-105)tAt>tGt		TEA domain family member 1 (SV40 transcriptional enhancer factor)							92	92	92					11																	12785928		2200	4294	6494	SO:0001583	missense	7003				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:12785928A>G	X84839	CCDS7810.1, CCDS7810.2	11p15.4	2008-11-12				ENSG00000187079			11714	protein-coding gene	gene with protein product		189967	"atrophia areata, peripapillary chorioretinal degeneration"	TCF13, AA		1851669, 9889009, 15016762	Standard	NM_021961		Approved	TEF-1	uc021qdx.1	P28347		ENST00000527575.1:c.149A>G	11.37:g.12785928A>G	ENSP00000435977:p.Tyr50Cys					TEAD1_ENST00000334310.6_Missense_Mutation_p.Y35C|TEAD1_ENST00000361985.2_Missense_Mutation_p.Y50C|TEAD1_ENST00000527636.1_Missense_Mutation_p.Y50C|TEAD1_ENST00000527575.1_Missense_Mutation_p.Y50C	p.Y35C	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN		Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)	3	769	+			50					A4FUP2|E7EV65	Missense_Mutation	SNP	ENST00000527575.1	37	c.104A>G		.	.	.	.	.	.	.	.	.	.	A	26.2	4.717076	0.89205	.	.	ENSG00000187079	ENST00000361905;ENST00000527636;ENST00000527376;ENST00000527575;ENST00000334310;ENST00000361985	T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3	5.51	5.51	0.81932	.	0.064977	0.64402	D	0.000005	T	0.69940	0.3167	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79045	-0.1964	10	0.87932	D	0	-9.928	15.5927	0.76550	1.0:0.0:0.0:0.0	.	50	P28347	TEAD1_HUMAN	C	35;50;50;50;35;50	ENSP00000355332:Y35C;ENSP00000435233:Y50C;ENSP00000432587:Y50C;ENSP00000435977:Y50C;ENSP00000334754:Y35C;ENSP00000354588:Y50C	ENSP00000334754:Y35C	Y	+	2	0	TEAD1	12742504	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	9.287000	0.95975	2.217000	0.71921	0.482000	0.46254	TAT		0.478	TEAD1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000386888.1	NM_021961		11	92	0	0	0	1	0	11	92					G	12785928	A	G	12785928	3	3	299	1	0	0	0	0	1	0	0	0	15735	449	16	3	151	3	TEAD1	11	12785928	Missense_Mutation	SNP	A	TCGA-EM-A2CS-01A-11D-A19J-08		12785928	122220588	12	6391											
ADPGK	83440	broad.mit.edu	37	chr15	73044692	73044692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaatcttcctaatagtgaGggtgtacttccgaatagaag	10	6	1	3			TCGA-EM-A2CS-01A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55ab2585-c937-4a29-9caf-62daf8fccc5d	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr15:73044692G>A	ENST00000311669.8	-	7	1574	c.1481C>T	c.(1480-1482)cCt>cTt	p.P494L	ADPGK_ENST00000456471.2_Missense_Mutation_p.P220L	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	495	ADPK. {ECO:0000255|PROSITE- ProRule:PRU00584}.				glycolytic process (GO:0006096)	extracellular region (GO:0005576)|membrane (GO:0016020)	ADP-specific glucokinase activity (GO:0043843)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						CTAATAGTGAGGGTGTACTTC	0.433																																						ENST00000311669.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						c.(1480-1482)cCt>cTt		ADP-dependent glucokinase							41	39	40					15																	73044692		1838	4086	5924	SO:0001583	missense	83440				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding	g.chr15:73044692G>A	AL136873	CCDS42057.1	15q24.1	2012-07-02			ENSG00000159322	ENSG00000159322			25250	protein-coding gene	gene with protein product		611861				11230166	Standard	NM_031284		Approved	DKFZp434B195, ADP-GK	uc002avf.4	Q9BRR6	OTTHUMG00000172777	ENST00000311669.8:c.1481C>T	15.37:g.73044692G>A	ENSP00000312250:p.Pro494Leu					ADPGK_ENST00000456471.2_Missense_Mutation_p.P220L	p.P494L	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN			7	1574	-			495			ADPK.		Q49AU7|Q8NBI1|Q8WZ90|Q96NF8|Q9H0A7	Missense_Mutation	SNP	ENST00000311669.8	37	c.1481C>T	CCDS42057.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255531	0.80135	.	.	ENSG00000159322	ENST00000311669;ENST00000443764;ENST00000456471	T	0.44881	0.91	5.63	4.72	0.59763	.	0.276116	0.43919	D	0.000515	T	0.26629	0.0651	N	0.22421	0.69	0.43448	D	0.995634	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.08055	0.001;0.001;0.003;0.002	T	0.06463	-1.0825	10	0.09338	T	0.73	-10.1017	12.5046	0.55973	0.1385:0.0:0.8615:0.0	.	437;495;494;220	B4DG35;Q9BRR6;Q9BRR6-2;Q9BRR6-4	.;ADPGK_HUMAN;.;.	L	494;414;220	ENSP00000312250:P494L	ENSP00000312250:P494L	P	-	2	0	ADPGK	70831745	1.000000	0.71417	0.033000	0.17914	0.551000	0.35334	4.948000	0.63590	1.390000	0.46547	-0.136000	0.14681	CCT		0.433	ADPGK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420434.1	NM_031284		15	35	0	0	0	1	0	15	35					A	73044692	G	A	73044692	3	1	299	1	0	0	0	0	1	0	0	0	330	1000	35	2	13	2	ADPGK	15	73044692	Missense_Mutation	SNP	G	TCGA-EM-A2CS-01A-11D-A19J-08		73044692	29486700	13	6392											
BFAR	51283	broad.mit.edu	37	chr16	14761536	14761536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatttctggaaagtatcaaCgcaggggctttttgtggcca	11	9	2	0	rs547915921		TCGA-EM-A2CS-01A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55ab2585-c937-4a29-9caf-62daf8fccc5d	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr16:14761536C>T	ENST00000261658.2	+	8	1482	c.1205C>T	c.(1204-1206)aCg>aTg	p.T402M	BFAR_ENST00000563082.1_3'UTR|BFAR_ENST00000426842.2_Missense_Mutation_p.T274M|BFAR_ENST00000563971.1_Missense_Mutation_p.T277M	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	402					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						AAAGTATCAACGCAGGGGCTT	0.488													C|||	1	0.000199681	8e-04	0	5008	,	,		18312	0		0	False		,,,				2504	0					ENST00000261658.2																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						c.(1204-1206)aCg>aTg		bifunctional apoptosis regulator							141	139	140					16																	14761536		2197	4300	6497	SO:0001583	missense	51283				anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding	g.chr16:14761536C>T	AF173003	CCDS10554.1	16p13.2	2013-01-10			ENSG00000103429	ENSG00000103429		"RING-type (C3HC4) zinc fingers", "Sterile alpha motif (SAM) domain containing"	17613	protein-coding gene	gene with protein product						10716992	Standard	NM_016561		Approved	BAR, RNF47	uc002dco.3	Q9NZS9	OTTHUMG00000129848	ENST00000261658.2:c.1205C>T	16.37:g.14761536C>T	ENSP00000261658:p.Thr402Met					BFAR_ENST00000426842.2_Missense_Mutation_p.T274M|BFAR_ENST00000563971.1_Missense_Mutation_p.T277M|BFAR_ENST00000563082.1_3'UTR	p.T402M	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN			8	1482	+			402					A8K4Z9|B4DUT0|D3DUG8	Missense_Mutation	SNP	ENST00000261658.2	37	c.1205C>T	CCDS10554.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787573	0.90367	.	.	ENSG00000103429	ENST00000261658;ENST00000426842	T;T	0.49720	3.11;0.77	5.69	5.69	0.88448	.	0.054362	0.85682	D	0.000000	T	0.56062	0.1960	N	0.24115	0.695	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	P;D;D	0.64506	0.849;0.926;0.926	T	0.60219	-0.7306	10	0.87932	D	0	.	18.7875	0.91961	0.0:1.0:0.0:0.0	.	274;402;402	B4DUT0;B2R9R6;Q9NZS9	.;.;BFAR_HUMAN	M	402;274	ENSP00000261658:T402M;ENSP00000400634:T274M	ENSP00000261658:T402M	T	+	2	0	BFAR	14669037	1.000000	0.71417	0.720000	0.30636	0.982000	0.71751	5.799000	0.69101	2.673000	0.90976	0.563000	0.77884	ACG		0.488	BFAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252088.1	NM_016561		49	100	0	0	0	1	0	49	100					T	14761536	C	T	14761536	3	4	299	1	0	0	0	0	1	0	0	0	1414	536	19	1	1231	1	BFAR	16	14761536	Missense_Mutation	SNP	C	TCGA-EM-A2CS-01A-11D-A19J-08		14761536	75593217	14	6393											
KIF19	124602	broad.mit.edu	37	chr17	72340946	72340946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggcagaggacccaggagcCcacggccgccaaccagacgt	13	17	0	2			TCGA-EM-A2CS-01A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55ab2585-c937-4a29-9caf-62daf8fccc5d	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr17:72340946C>T	ENST00000389916.4	+	7	767	c.629C>T	c.(628-630)cCc>cTc	p.P210L		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	210	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						ACCCAGGAGCCCACGGCCGCC	0.667																																						ENST00000389916.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(628-630)cCc>cTc		kinesin family member 19							36	40	39					17																	72340946		2201	4297	6498	SO:0001583	missense	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72340946C>T	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"Kinesins"	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.629C>T	17.37:g.72340946C>T	ENSP00000374566:p.Pro210Leu						p.P210L	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN			7	767	+			210			Kinesin-motor.		A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	c.629C>T	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	C	32	5.105984	0.94292	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.74737	-0.87;-0.87	5.49	5.49	0.81192	Kinesin, motor domain (4);	.	.	.	.	D	0.85737	0.5766	M	0.72118	2.19	0.80722	D	1	D;D;D;D	0.71674	0.998;0.997;0.963;0.963	D;D;P;P	0.74348	0.983;0.957;0.835;0.864	D	0.86952	0.2086	9	0.87932	D	0	.	18.1998	0.89834	0.0:1.0:0.0:0.0	.	210;168;168;210	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	L	168;210	ENSP00000449134:P168L;ENSP00000374566:P210L	ENSP00000374566:P210L	P	+	2	0	KIF19	69852541	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	7.383000	0.79741	2.595000	0.87683	0.556000	0.70494	CCC		0.667	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		6	41	0	0	0	1	0	6	41					T	72340946	C	T	72340946	3	4	299	1	0	0	0	0	1	0	0	0	8282	623	22	2	655	2	KIF19	17	72340946	Missense_Mutation	SNP	C	TCGA-EM-A2CS-01A-11D-A19J-08		72340946	8854264	15	6394											
ARID3A	1820	broad.mit.edu	37	chr19	932497	932499	+	In_Frame_Del	DEL	GAG	GAG	-													aggaggaggattacgaggatGaggaggaggaggaggacgag					rs201472856		TCGA-EM-A2CS-01A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55ab2585-c937-4a29-9caf-62daf8fccc5d	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr19:932497_932499delGAG	ENST00000263620.3	+	3	775_777	c.448_450delGAG	c.(448-450)gagdel	p.E154del		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	154	Acidic.|Glu-rich.					cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		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)		ttacgaggatgaggaggaggagg	0.67																																					Pancreas(29;54 1022 32760 50921)	ENST00000263620.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10						c.(448-450)del		AT rich interactive domain 3A (BRIGHT-like)				28,4098		1,26,2036						-7.3	0.2			11	102,7952		9,84,3934	no	coding	ARID3A	NM_005224.2		10,110,5970	A1A1,A1R,RR		1.2665,0.6786,1.0673				130,12050				SO:0001651	inframe_deletion	1820					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:932497_932499delGAG	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"-"	3031	protein-coding gene	gene with protein product		603265	"dead ringer-like 1 (Drosophila)", "AT rich interactive domain 3A (BRIGHT- like)"	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.448_450delGAG	19.37:g.932506_932508delGAG	ENSP00000263620:p.Glu154del						p.E154del	NM_005224.2	NP_005215.1	Q99856	ARI3A_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)	3	775_777	+		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)	154			Acidic.|Glu-rich.		Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	In_Frame_Del	DEL	ENST00000263620.3	37	c.448_450delGAG	CCDS12050.1																																																																																				0.67	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		3	6						3	6	---	---	---	---	-	932499	GAG	-	932497	7	5	299	1	0	1	0	1	0	0	0	0	916	1291	45	0	454	0	ARID3A	19	932497	In_Frame_Del	DEL	GAG	TCGA-EM-A2CS-01A-11D-A19J-08		932497	58196486	16	6395											
NXNL1	115861	broad.mit.edu	37	chr19	17571489	17571489	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgcccgcagtacatagaactCatctgtgagccgcacgaaga	10	13	2	3	rs150719211	byFrequency	TCGA-EM-A2CS-01A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55ab2585-c937-4a29-9caf-62daf8fccc5d	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr19:17571489C>T	ENST00000301944.2	-	1	274	c.190G>A	c.(190-192)Gag>Aag	p.E64K	CTD-2521M24.10_ENST00000594663.1_5'UTR	NM_138454.1	NP_612463.1	Q96CM4	NXNL1_HUMAN	nucleoredoxin-like 1	64	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				photoreceptor cell maintenance (GO:0045494)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	6						ACATAGAACTCATCTGTGAGC	0.597													C|||	2	0.000399361	0	0	5008	,	,		17461	0		0.002	False		,,,				2504	0					ENST00000301944.2																			0				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	6	GRCh37	CM067483	NXNL1	M	rs150719211	c.(190-192)Gag>Aag		nucleoredoxin-like 1		C	LYS/GLU	4,4402	9.9+/-24.2	0,4,2199	77	72	74		190	3.9	1.0	19	dbSNP_134	74	28,8572	19.8+/-62.0	0,28,4272	yes	missense	NXNL1	NM_138454.1	56	0,32,6471	TT,TC,CC		0.3256,0.0908,0.246	benign	64/213	17571489	32,12974	2203	4300	6503	SO:0001583	missense	115861				cell redox homeostasis	nuclear outer membrane		g.chr19:17571489C>T	BC014127	CCDS12360.1	19p13.11	2014-05-21	2007-08-16	2007-08-16	ENSG00000171773	ENSG00000171773			25179	protein-coding gene	gene with protein product		608791	"thioredoxin-like 6"	TXNL6		12477932	Standard	NM_138454		Approved	RDCVF	uc002ngs.3	Q96CM4	OTTHUMG00000182798	ENST00000301944.2:c.190G>A	19.37:g.17571489C>T	ENSP00000305631:p.Glu64Lys					CTD-2521M24.10_ENST00000594663.1_5'UTR	p.E64K	NM_138454.1	NP_612463.1	Q96CM4	NXNL1_HUMAN			1	274	-			64			Thioredoxin.		Q0QD37	Missense_Mutation	SNP	ENST00000301944.2	37	c.190G>A	CCDS12360.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	c	14.22	2.469554	0.43839	9.08E-4	0.003256	ENSG00000171773	ENST00000301944	D	0.88201	-2.35	3.92	3.92	0.45320	Thioredoxin-like fold (3);	0.113857	0.64402	D	0.000018	D	0.87795	0.6267	N	0.26042	0.785	0.52099	D	0.999946	D	0.61697	0.99	P	0.60173	0.87	D	0.84749	0.0755	10	0.20046	T	0.44	-34.5012	13.4448	0.61134	0.0:1.0:0.0:0.0	.	64	Q96CM4	NXNL1_HUMAN	K	64	ENSP00000305631:E64K	ENSP00000305631:E64K	E	-	1	0	NXNL1	17432489	0.938000	0.31826	0.955000	0.39395	0.588000	0.36517	1.370000	0.34238	2.018000	0.59344	0.467000	0.42956	GAG		0.597	NXNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463803.1	NM_138454		5	103	0	0	0	1	0	5	103					T	17571489	C	T	17571489	3	4	299	1	0	0	0	0	1	0	0	0	10788	835	29	2	456	2	NXNL1	19	17571489	Missense_Mutation	SNP	C	TCGA-EM-A2CS-01A-11D-A19J-08	16638992	17571489	41557494	17	6396											
TP73	7161	broad.mit.edu	37	chr1	3599677	3599677	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcaagccgggggaataatgAggtggtgggcggaacggatt	19	5	1	1			TCGA-EM-A2CT-01A-11D-A17V-08	TCGA-EM-A2CT-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c031db9d-3df4-4e30-bd5f-e85ab565782c	9af44b82-f5a6-400d-b9c6-4f00b6a24bdd	g.chr1:3599677A>G	ENST00000378295.4	+	3	274	c.119A>G	c.(118-120)gAg>gGg	p.E40G	TP73_ENST00000354437.4_Missense_Mutation_p.E40G|TP73_ENST00000603362.1_Missense_Mutation_p.E40G|TP73_ENST00000604074.1_Missense_Mutation_p.E40G|TP73_ENST00000346387.4_Missense_Mutation_p.E40G|TP73_ENST00000604479.1_Missense_Mutation_p.E40G|TP73_ENST00000357733.3_Missense_Mutation_p.E40G	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	40	Asp/Glu-rich (acidic).|Transactivation. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		GGGAATAATGAGGTGGTGGGC	0.587																																						ENST00000378295.4																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20						c.(118-120)gAg>gGg		tumor protein p73							127	122	124					1																	3599677		2203	4300	6503	SO:0001583	missense	7161				cellular response to UV|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|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity	g.chr1:3599677A>G	AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.119A>G	1.37:g.3599677A>G	ENSP00000367545:p.Glu40Gly					TP73_ENST00000603362.1_Missense_Mutation_p.E40G|TP73_ENST00000357733.3_Missense_Mutation_p.E40G|TP73_ENST00000354437.4_Missense_Mutation_p.E40G|TP73_ENST00000346387.4_Missense_Mutation_p.E40G|TP73_ENST00000604074.1_Missense_Mutation_p.E40G|TP73_ENST00000604479.1_Missense_Mutation_p.E40G	p.E40G	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)	3	274	+	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)	40			Asp/Glu-rich (acidic).|Transactivation (By similarity).		B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Missense_Mutation	SNP	ENST00000378295.4	37	c.119A>G	CCDS49.1	.	.	.	.	.	.	.	.	.	.	A	12.00	1.806408	0.31961	.	.	ENSG00000078900	ENST00000378295;ENST00000354437;ENST00000357733;ENST00000346387	D;D;D;D	0.99418	-5.73;-5.87;-5.62;-5.73	4.74	3.59	0.41128	.	0.586829	0.17223	U	0.182244	D	0.98071	0.9364	L	0.33485	1.01	0.80722	D	1	P;B	0.40332	0.713;0.41	B;B	0.43783	0.431;0.071	D	0.96664	0.9491	10	0.49607	T	0.09	-17.1579	11.1032	0.48188	0.8447:0.1553:0.0:0.0	.	40;40	O15350-2;O15350	.;P73_HUMAN	G	40	ENSP00000367545:E40G;ENSP00000346423:E40G;ENSP00000350366:E40G;ENSP00000340740:E40G	ENSP00000340740:E40G	E	+	2	0	TP73	3589537	1.000000	0.71417	0.043000	0.18650	0.178000	0.23041	3.534000	0.53568	0.747000	0.32809	0.460000	0.39030	GAG		0.587	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001468.4	NM_005427		3	115	0	0	0	6.4e-05	0	3	115					G	3599677	A	G	3599677	3	3	300	1	0	0	0	0	1	0	0	0	16390	304	11	3	125	3	TP73	1	3599677	Missense_Mutation	SNP	A	TCGA-EM-A2CT-01A-11D-A17V-08		3599677	245650944	1	6397											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290	byFrequency	TCGA-EM-A2CT-01A-11D-A17V-08	TCGA-EM-A2CT-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c031db9d-3df4-4e30-bd5f-e85ab565782c	9af44b82-f5a6-400d-b9c6-4f00b6a24bdd	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		neuroblastoma RAS viral (v-ras) oncogene homolog							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		55	105	0	0	0	0.000781405	0	55	105					C	115256529	T	C	115256529	3	2	300	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-EM-A2CT-01A-11D-A17V-08	111656852	115256529	133994092	2	6398											
SLC9A4	389015	broad.mit.edu	37	chr2	103141530	103141530	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaccccaaacaagtgagaaGcaggctaaagagattctgat	9	8	1	3			TCGA-EM-A2CT-01A-11D-A17V-08	TCGA-EM-A2CT-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c031db9d-3df4-4e30-bd5f-e85ab565782c	9af44b82-f5a6-400d-b9c6-4f00b6a24bdd	g.chr2:103141530G>T	ENST00000295269.4	+	10	2323	c.1866G>T	c.(1864-1866)aaG>aaT	p.K622N		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	622					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CAAGTGAGAAGCAGGCTAAAG	0.498																																						ENST00000295269.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1864-1866)aaG>aaT		solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4							177	187	184					2																	103141530		2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103141530G>T		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"Solute carriers"	11077	protein-coding gene	gene with protein product		600531	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 4", "solute carrier family 9 (sodium/hydrogen exchanger), member 4"			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.1866G>T	2.37:g.103141530G>T	ENSP00000295269:p.Lys622Asn						p.K622N	NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN			10	2323	+			622					Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.1866G>T	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495305	0.26774	.	.	ENSG00000180251	ENST00000295269	T	0.42513	0.97	5.84	0.334	0.15948	.	0.442633	0.27673	N	0.018333	T	0.32585	0.0834	L	0.52206	1.635	0.35411	D	0.792411	B	0.12013	0.005	B	0.14023	0.01	T	0.30149	-0.9988	10	0.25106	T	0.35	.	10.4031	0.44241	0.43:0.0:0.57:0.0	.	622	Q6AI14	SL9A4_HUMAN	N	622	ENSP00000295269:K622N	ENSP00000295269:K622N	K	+	3	2	SLC9A4	102507962	1.000000	0.71417	0.971000	0.41717	0.037000	0.13140	1.483000	0.35497	0.114000	0.18032	-0.152000	0.13540	AAG		0.498	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		8	209	1	0	1.12685e-05	0.000274275	0.000370881	8	209					T	103141530	G	T	103141530	3	4	300	1	0	0	0	0	1	0	0	0	14716	962	34	4	1904	4	SLC9A4	2	103141530	Missense_Mutation	SNP	G	TCGA-EM-A2CT-01A-11D-A17V-08		103141530	140057843	3	6399											
IRS1	3667	broad.mit.edu	37	chr2	227661463	227661463	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagccaccgctgggggacatCatcatgtagccattggggtc	13	12	2	0			TCGA-EM-A2CT-01A-11D-A17V-08	TCGA-EM-A2CT-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c031db9d-3df4-4e30-bd5f-e85ab565782c	9af44b82-f5a6-400d-b9c6-4f00b6a24bdd	g.chr2:227661463C>A	ENST00000305123.5	-	1	3012	c.1992G>T	c.(1990-1992)atG>atT	p.M664I	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	664					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TGGGGGACATCATCATGTAGC	0.597											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(1990-1992)atG>atT		insulin receptor substrate 1							78	75	76					2																	227661463		2203	4300	6503	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227661463C>A		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.1992G>T	2.37:g.227661463C>A	ENSP00000304895:p.Met664Ile		OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.M664I	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	3012	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	664						Missense_Mutation	SNP	ENST00000305123.5	37	c.1992G>T	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.449111	0.26074	.	.	ENSG00000169047	ENST00000305123	T	0.58652	0.32	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.48040	0.1478	L	0.39898	1.24	0.36619	D	0.875622	P	0.39831	0.69	B	0.33454	0.164	T	0.58375	-0.7647	10	0.37606	T	0.19	-15.0102	18.0712	0.89407	0.0:1.0:0.0:0.0	.	664	P35568	IRS1_HUMAN	I	664	ENSP00000304895:M664I	ENSP00000304895:M664I	M	-	3	0	IRS1	227369707	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	3.586000	0.53950	2.504000	0.84457	0.561000	0.74099	ATG		0.597	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		6	97	1	0	2.0095e-06	8.12818e-05	6.9145e-05	6	97					A	227661463	C	A	227661463	3	1	300	1	0	0	0	0	1	0	0	0	7840	826	29	4	1740	4	IRS1	2	227661463	Missense_Mutation	SNP	C	TCGA-EM-A2CT-01A-11D-A17V-08	124519933	227661463	15537910	4	6400											
NGEF	25791	broad.mit.edu	37	chr2	233744290	233744290	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacacggaaacattccttgAggttctgggaccggatcttg	13	9	2	1			TCGA-EM-A2CT-01A-11D-A17V-08	TCGA-EM-A2CT-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c031db9d-3df4-4e30-bd5f-e85ab565782c	9af44b82-f5a6-400d-b9c6-4f00b6a24bdd	g.chr2:233744290A>G	ENST00000264051.3	-	15	2320	c.2042T>C	c.(2041-2043)cTc>cCc	p.L681P	NGEF_ENST00000373552.4_Missense_Mutation_p.L589P|NGEF_ENST00000539537.1_Missense_Mutation_p.L404P	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	681					apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		ACATTCCTTGAGGTTCTGGGA	0.592																																						ENST00000264051.3																			0				central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35						c.(2041-2043)cTc>cCc		neuronal guanine nucleotide exchange factor							96	96	96					2																	233744290		2203	4300	6503	SO:0001583	missense	25791				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr2:233744290A>G	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"Rho guanine nucleotide exchange factors"	7807	protein-coding gene	gene with protein product	"ephexin"	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.2042T>C	2.37:g.233744290A>G	ENSP00000264051:p.Leu681Pro					NGEF_ENST00000539537.1_Missense_Mutation_p.L404P|NGEF_ENST00000373552.4_Missense_Mutation_p.L589P	p.L681P	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)	15	2320	-		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	681					B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	ENST00000264051.3	37	c.2042T>C	CCDS2500.1	.	.	.	.	.	.	.	.	.	.	a	20.7	4.028418	0.75390	.	.	ENSG00000066248	ENST00000264051;ENST00000373552;ENST00000541023;ENST00000539537	T;T;T	0.74526	-0.64;-0.85;-0.72	4.19	4.19	0.49359	.	0.000000	0.64402	D	0.000005	T	0.77857	0.4193	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.80752	-0.1242	10	0.87932	D	0	-26.5114	13.2696	0.60153	1.0:0.0:0.0:0.0	.	589;681	E9PC42;Q8N5V2	.;NGEF_HUMAN	P	681;589;571;404	ENSP00000264051:L681P;ENSP00000362653:L589P;ENSP00000439035:L404P	ENSP00000264051:L681P	L	-	2	0	NGEF	233452534	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.813000	0.75231	1.523000	0.49018	0.456000	0.33151	CTC		0.592	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		4	113	0	0	0	0.00024832	0	4	113					G	233744290	A	G	233744290	3	3	300	1	0	0	0	0	1	0	0	0	10394	304	11	3	94	3	NGEF	2	233744290	Missense_Mutation	SNP	A	TCGA-EM-A2CT-01A-11D-A17V-08	6082827	233744290	9455083	5	6401											
OSMR	9180	broad.mit.edu	37	chr5	38925336	38925336	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgttgcaaatacaaaattgAcaacccggaagaaaaggcat	8	7	0	2			TCGA-EM-A2CT-01A-11D-A17V-08	TCGA-EM-A2CT-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c031db9d-3df4-4e30-bd5f-e85ab565782c	9af44b82-f5a6-400d-b9c6-4f00b6a24bdd	g.chr5:38925336A>G	ENST00000274276.3	+	15	2477	c.2075A>G	c.(2074-2076)gAc>gGc	p.D692G		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	692	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TACAAAATTGACAACCCGGAA	0.348																																						ENST00000274276.3																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46						c.(2074-2076)gAc>gGc		oncostatin M receptor							107	100	103					5																	38925336		2203	4300	6503	SO:0001583	missense	9180				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	g.chr5:38925336A>G	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"Fibronectin type III domain containing"	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.2075A>G	5.37:g.38925336A>G	ENSP00000274276:p.Asp692Gly						p.D692G	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN			15	2477	+	all_lung(31;0.000365)		692			Fibronectin type-III 4.		Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	37	c.2075A>G	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	A	5.530	0.282690	0.10458	.	.	ENSG00000145623	ENST00000274276	T	0.53423	0.62	5.76	1.84	0.25277	Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.358740	0.04094	N	0.311839	T	0.36826	0.0981	L	0.51422	1.61	0.09310	N	1	P	0.39782	0.688	B	0.28849	0.095	T	0.24083	-1.0170	10	0.24483	T	0.36	.	6.5082	0.22206	0.6971:0.1431:0.1597:0.0	.	692	Q99650	OSMR_HUMAN	G	692	ENSP00000274276:D692G	ENSP00000274276:D692G	D	+	2	0	OSMR	38961093	0.007000	0.16637	0.001000	0.08648	0.059000	0.15707	2.147000	0.42226	0.470000	0.27294	0.533000	0.62120	GAC		0.348	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999		3	82	0	0	0	6.4e-05	0	3	82					G	38925336	A	G	38925336	3	3	300	1	0	0	0	0	1	0	0	0	11292	275	10	3	2167	3	OSMR	5	38925336	Missense_Mutation	SNP	A	TCGA-EM-A2CT-01A-11D-A17V-08		38925336	141989924	6	6402											
DICER1	23405	broad.mit.edu	37	chr14	95556886	95556886	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggcttcggagggctctTcttgctgctgcagatttggc	14	9	2	2			TCGA-EM-A2CT-01A-11D-A17V-08	TCGA-EM-A2CT-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c031db9d-3df4-4e30-bd5f-e85ab565782c	9af44b82-f5a6-400d-b9c6-4f00b6a24bdd	g.chr14:95556886T>G	ENST00000526495.1	-	29	6009	c.5718A>C	c.(5716-5718)agA>agC	p.R1906S	DICER1_ENST00000556045.1_Missense_Mutation_p.R804S|DICER1_ENST00000393063.1_Missense_Mutation_p.R1906S|DICER1_ENST00000527414.1_Missense_Mutation_p.R1906S|DICER1_ENST00000343455.3_Missense_Mutation_p.R1906S|DICER1_ENST00000541352.1_3'UTR|DICER1_ENST00000527416.2_5'UTR			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1906	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GGAGGGCTCTTCTTGCTGCTG	0.418			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"Mis F, N"	"dicer 1, ribonuclease type III "			"E, M, O"		pleuropulmonary blastoma	"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(5716-5718)agA>agC		dicer 1, ribonuclease type III							190	190	190					14																	95556886		2203	4300	6503	SO:0001583	missense	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95556886T>G	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.5718A>C	14.37:g.95556886T>G	ENSP00000437256:p.Arg1906Ser					DICER1_ENST00000556045.1_Missense_Mutation_p.R804S|DICER1_ENST00000541352.1_3'UTR|DICER1_ENST00000527414.1_Missense_Mutation_p.R1906S|DICER1_ENST00000393063.1_Missense_Mutation_p.R1906S|DICER1_ENST00000527416.2_5'UTR|DICER1_ENST00000343455.3_Missense_Mutation_p.R1906S	p.R1906S			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	29	6009	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1906			DRBM.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.5718A>C	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	T	19.50	3.839208	0.71373	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	5.96	3.07	0.35406	Double-stranded RNA-binding (2);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	T	0.66934	0.2840	L	0.44542	1.39	0.80722	D	1	D;D	0.63046	0.992;0.992	D;D	0.68765	0.96;0.96	T	0.62859	-0.6765	10	0.33940	T	0.23	-26.3038	8.9484	0.35773	0.0:0.2687:0.0:0.7313	.	804;1906	B3KRG4;Q9UPY3	.;DICER_HUMAN	S	1906;1906;1906;1906;804	ENSP00000343745:R1906S;ENSP00000437256:R1906S;ENSP00000376783:R1906S;ENSP00000435681:R1906S;ENSP00000451041:R804S	ENSP00000343745:R1906S	R	-	3	2	DICER1	94626639	0.999000	0.42202	0.977000	0.42913	0.986000	0.74619	0.377000	0.20552	0.943000	0.37553	0.533000	0.62120	AGA		0.418	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			59	106	0	0	0	0.000781405	0	59	106					G	95556886	T	G	95556886	3	3	300	1	0	0	0	0	1	0	0	0	4521	1780	62	5	54	5	DICER1	14	95556886	Missense_Mutation	SNP	T	TCGA-EM-A2CT-01A-11D-A17V-08		95556886	11792654	7	6403											
KRTAP4-12	83755	broad.mit.edu	37	chr17	39279800	39279800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggcacagcacaaggggCgggggcaggtggagatgaca	20	7	0	2			TCGA-EM-A2CT-01A-11D-A17V-08	TCGA-EM-A2CT-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c031db9d-3df4-4e30-bd5f-e85ab565782c	9af44b82-f5a6-400d-b9c6-4f00b6a24bdd	g.chr17:39279800C>T	ENST00000394014.1	-	1	619	c.575G>A	c.(574-576)cGc>cAc	p.R192H		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	192						keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCACAAGGGGCGGGGGCAGGT	0.572																																						ENST00000394014.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(574-576)cGc>cAc		keratin associated protein 4-12							63	54	57					17																	39279800		2200	4296	6496	SO:0001583	missense	83755					keratin filament		g.chr17:39279800C>T	AJ406943	CCDS32649.1	17q21.2	2013-06-25			ENSG00000213416	ENSG00000213416		"Keratin associated proteins"	16776	protein-coding gene	gene with protein product						11279113	Standard	NM_031854		Approved	KAP4.12	uc002hwa.3	Q9BQ66	OTTHUMG00000133632	ENST00000394014.1:c.575G>A	17.37:g.39279800C>T	ENSP00000377582:p.Arg192His						p.R192H	NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	619	-		Breast(137;0.000496)	192					A3KMC5|Q495I0	Missense_Mutation	SNP	ENST00000394014.1	37	c.575G>A	CCDS32649.1	.	.	.	.	.	.	.	.	.	.	.	11.64	1.698255	0.30142	.	.	ENSG00000213416	ENST00000394014;ENST00000455597	T	0.00609	6.24	4.42	3.44	0.39384	.	1.110130	0.07149	U	0.848700	T	0.02047	0.0064	L	0.55743	1.74	0.28856	N	0.895777	D	0.89917	1.0	D	0.68765	0.96	T	0.52525	-0.8564	10	0.56958	D	0.05	.	10.4338	0.44424	0.0:0.9025:0.0:0.0975	.	192	Q9BQ66	KR412_HUMAN	H	192;37	ENSP00000377582:R192H	ENSP00000377582:R192H	R	-	2	0	KRTAP4-12	36533326	0.995000	0.38212	0.973000	0.42090	0.175000	0.22909	1.298000	0.33412	1.222000	0.43521	0.462000	0.41574	CGC		0.572	KRTAP4-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257777.1			6	17	0	0	0	3.59834e-05	0	6	17					T	39279800	C	T	39279800	3	4	300	1	0	0	0	0	1	0	0	0	8550	768	27	1	34	1	KRTAP4-12	17	39279800	Missense_Mutation	SNP	C	TCGA-EM-A2CT-01A-11D-A17V-08		39279800	41915410	8	6404											
WDR7	23335	broad.mit.edu	37	chr18	54603138	54603138	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccaccatagccaaagaggTgagcggaacttctcagtgtg	11	11	1	2			TCGA-EM-A2CT-01A-11D-A17V-08	TCGA-EM-A2CT-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c031db9d-3df4-4e30-bd5f-e85ab565782c	9af44b82-f5a6-400d-b9c6-4f00b6a24bdd	g.chr18:54603138T>C	ENST00000254442.3	+	23	4042		c.e23+2		WDR7_ENST00000357574.3_Splice_Site|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7						hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GCCAAAGAGGTGAGCGGAACT	0.517																																						ENST00000254442.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78						c.e23+2		WD repeat domain 7							81	80	80					18																	54603138		2203	4300	6503	SO:0001630	splice_region_variant	23335							g.chr18:54603138T>C	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"WD repeat domain containing"	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.3831+2T>C	18.37:g.54603138T>C						WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Splice_Site		NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	23	4042	+								A7E2C8|Q86UX5|Q86VP2|Q96PS7	Splice_Site	SNP	ENST00000254442.3	37		CCDS11962.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.388165	0.82902	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2571	0.73593	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR7	52754136	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.727000	0.84838	2.100000	0.63781	0.477000	0.44152	.		0.517	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1		Intron	10	90	0	0	0	0.000442599	0	10	90					C	54603138	T	C	54603138	5	2	300	1	0	0	0	0	0	0	1	0	17317	1710	59	3	3919	3	WDR7	18	54603138	Splice_Site	SNP	T	TCGA-EM-A2CT-01A-11D-A17V-08		54603138	23474110	9	6405											
HNRNPR	10236	broad.mit.edu	37	chr1	23645159	23645159	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgtcatcgggttgatgataGagaataacgtccaccaaacc	9	9	1	3			TCGA-EM-A2CU-01A-12D-A17V-08	TCGA-EM-A2CU-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788fbfaa-51bf-42a4-afa6-5b87ed04c2d5	f0c68997-7104-43fb-b949-3ea4b958aab9	g.chr1:23645159G>A	ENST00000374612.1	-	8	957	c.834C>T	c.(832-834)ctC>ctT	p.L278L	HNRNPR_ENST00000302271.6_Silent_p.L278L|HNRNPR_ENST00000478691.1_Silent_p.L180L|HNRNPR_ENST00000606561.1_Silent_p.L139L|HNRNPR_ENST00000374616.3_Silent_p.L281L|HNRNPR_ENST00000427764.2_Silent_p.L240L|HNRNPR_ENST00000426846.2_Silent_p.L118L	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	278	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		GTTGATGATAGAGAATAACGT	0.463																																						ENST00000478691.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(538-540)ctC>ctT		heterogeneous nuclear ribonucleoprotein R							69	68	68					1																	23645159		2203	4300	6503	SO:0001819	synonymous_variant	10236					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:23645159G>A	AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"RNA binding motif (RRM) containing"	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.834C>T	1.37:g.23645159G>A						HNRNPR_ENST00000374612.1_Silent_p.L278L|HNRNPR_ENST00000426846.2_Silent_p.L118L|HNRNPR_ENST00000606561.1_Silent_p.L139L|HNRNPR_ENST00000374616.3_Silent_p.L281L|HNRNPR_ENST00000302271.6_Silent_p.L278L|HNRNPR_ENST00000427764.2_Silent_p.L240L	p.L180L	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)	7	811	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	278			RRM 1.		Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Silent	SNP	ENST00000374612.1	37	c.540C>T	CCDS232.1																																																																																				0.463	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008889.1	NM_005826		6	17	0	0	0	0.001168	0	6	17					A	23645159	G	A	23645159	2	1	301	1	0	0	0	0	0	0	0	1	7272	929	33	2		2	HNRNPR	1	23645159	Silent	SNP	G	TCGA-EM-A2CU-01A-12D-A17V-08		23645159	225605462	1	6406											
INADL	10207	broad.mit.edu	37	chr1	62550208	62550208	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tggtttccaggctcctctgtCagtggaccccgcaacgtgtc	11	14	2	0			TCGA-EM-A2CU-01A-12D-A17V-08	TCGA-EM-A2CU-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788fbfaa-51bf-42a4-afa6-5b87ed04c2d5	f0c68997-7104-43fb-b949-3ea4b958aab9	g.chr1:62550208C>G	ENST00000371158.2	+	33	4379	c.4265C>G	c.(4264-4266)tCa>tGa	p.S1422*	INADL_ENST00000543708.1_Nonsense_Mutation_p.S206*|INADL_ENST00000545929.1_Nonsense_Mutation_p.S95*|INADL_ENST00000316485.6_Nonsense_Mutation_p.S1422*	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1422					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GCTCCTCTGTCAGTGGACCCC	0.517																																						ENST00000371158.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.(4264-4266)tCa>tGa		InaD-like (Drosophila)							96	87	90					1																	62550208		2203	4300	6503	SO:0001587	stop_gained	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62550208C>G	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.4265C>G	1.37:g.62550208C>G	ENSP00000360200:p.Ser1422*					INADL_ENST00000316485.6_Nonsense_Mutation_p.S1422*|INADL_ENST00000545929.1_Nonsense_Mutation_p.S95*|INADL_ENST00000543708.1_Nonsense_Mutation_p.S206*	p.S1422*	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN			33	4379	+			1422					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Nonsense_Mutation	SNP	ENST00000371158.2	37	c.4265C>G	CCDS617.2	.	.	.	.	.	.	.	.	.	.	C	44	10.559965	0.99427	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000543708;ENST00000545929	.	.	.	5.02	5.02	0.67125	.	0.220979	0.29956	N	0.010763	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	17.6843	0.88252	0.0:1.0:0.0:0.0	.	.	.	.	X	1422;1422;1422;1422;206;95	.	ENSP00000326199:S1422X	S	+	2	0	INADL	62322796	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	5.736000	0.68597	2.477000	0.83638	0.655000	0.94253	TCA		0.517	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		4	44	0	0	0	0.000248	0	4	44					G	62550208	C	G	62550208	4	3	301	1	0	0	0	0	0	1	0	0	7731	838	29	4	4391	4	INADL	1	62550208	Nonsense_Mutation	SNP	C	TCGA-EM-A2CU-01A-12D-A17V-08	38905049	62550208	186700413	2	6407											
CHSY3	337876	broad.mit.edu	37	chr5	129520924	129520924	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caatgaagggagagttttccAgaggtcttggtcttgaaatg	13	5	2	4			TCGA-EM-A2CU-01A-12D-A17V-08	TCGA-EM-A2CU-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788fbfaa-51bf-42a4-afa6-5b87ed04c2d5	f0c68997-7104-43fb-b949-3ea4b958aab9	g.chr5:129520924A>T	ENST00000305031.4	+	3	2447	c.2089A>T	c.(2089-2091)Aga>Tga	p.R697*		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	697					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		AGAGTTTTCCAGAGGTCTTGG	0.443																																						ENST00000305031.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28						c.(2089-2091)Aga>Tga		chondroitin sulfate synthase 3							83	78	79					5																	129520924		2203	4300	6503	SO:0001587	stop_gained	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129520924A>T	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.2089A>T	5.37:g.129520924A>T	ENSP00000302629:p.Arg697*						p.R697*	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	3	2447	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	697					B2RP97|Q76L22|Q86Y52	Nonsense_Mutation	SNP	ENST00000305031.4	37	c.2089A>T	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	A	38	7.229103	0.98150	.	.	ENSG00000198108	ENST00000305031	.	.	.	4.33	4.33	0.51752	.	0.000000	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.7644	14.5729	0.68224	1.0:0.0:0.0:0.0	.	.	.	.	X	697	.	.	R	+	1	2	CHSY3	129548823	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.787000	0.55439	2.171000	0.68590	0.528000	0.53228	AGA		0.443	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		8	30	0	0	0	0.00308	0	8	30					T	129520924	A	T	129520924	4	4	301	1	0	0	0	0	0	1	0	0	3413	180	7	5	2099	5	CHSY3	5	129520924	Nonsense_Mutation	SNP	A	TCGA-EM-A2CU-01A-12D-A17V-08		129520924	51394336	3	6408											
ZNF92	168374	broad.mit.edu	37	chr7	64863822	64863822	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaagaatgtggcaaagcTtttaaccggtcctcaaccct	9	10	1	2			TCGA-EM-A2CU-01A-12D-A17V-08	TCGA-EM-A2CU-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788fbfaa-51bf-42a4-afa6-5b87ed04c2d5	f0c68997-7104-43fb-b949-3ea4b958aab9	g.chr7:64863822T>C	ENST00000328747.7	+	4	994	c.795T>C	c.(793-795)gcT>gcC	p.A265A	ZNF92_ENST00000431504.1_Silent_p.A189A|ZNF92_ENST00000450302.2_Silent_p.A196A|ZNF92_ENST00000357512.2_Silent_p.A233A	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	265					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				GTGGCAAAGCTTTTAACCGGT	0.373																																						ENST00000328747.7																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13						c.(793-795)gcT>gcC		zinc finger protein 92							38	42	41					7																	64863822		2184	4285	6469	SO:0001819	synonymous_variant	168374					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:64863822T>C	M61872	CCDS34646.1, CCDS47596.1, CCDS75608.1, CCDS75609.1	7q11.21	2013-01-08	2006-05-12		ENSG00000146757	ENSG00000146757		"Zinc fingers, C2H2-type", "-"	13168	protein-coding gene	gene with protein product		603974	"zinc finger protein 92 (HTF12)"			8467795	Standard	NM_001287533		Approved	HPF12, TF12	uc003ttz.3	Q03936	OTTHUMG00000156557	ENST00000328747.7:c.795T>C	7.37:g.64863822T>C						ZNF92_ENST00000431504.1_Silent_p.A189A|ZNF92_ENST00000357512.2_Silent_p.A233A|ZNF92_ENST00000450302.2_Silent_p.A196A	p.A265A	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN			4	994	+		Lung NSC(55;0.159)	265					A6NNF9|Q8N492|Q8NB35	Silent	SNP	ENST00000328747.7	37	c.795T>C	CCDS34646.1																																																																																				0.373	ZNF92-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344589.2	NM_152626		3	51	0	0	0	0.004672	0	3	51					C	64863822	T	C	64863822	2	2	301	1	0	0	0	0	0	0	0	1	18198	1596	56	3		3	ZNF92	7	64863822	Silent	SNP	T	TCGA-EM-A2CU-01A-12D-A17V-08		64863822	94274841	4	6409											
OR5J2	282775	broad.mit.edu	37	chr11	55944860	55944860	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catattctatggtaccttaaTctttagctacattcagccaa	4	10	3	0	rs139886298		TCGA-EM-A2CU-01A-12D-A17V-08	TCGA-EM-A2CU-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788fbfaa-51bf-42a4-afa6-5b87ed04c2d5	f0c68997-7104-43fb-b949-3ea4b958aab9	g.chr11:55944860T>C	ENST00000312298.1	+	1	767	c.767T>C	c.(766-768)aTc>aCc	p.I256T		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GGTACCTTAATCTTTAGCTAC	0.448																																						ENST00000312298.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44						c.(766-768)aTc>aCc		olfactory receptor, family 5, subfamily J, member 2		G	THR/ILE	0,4402		0,0,2201	127	123	125		767	-0.3	0.0	11	dbSNP_134	125	1,8591		0,1,4295	no	missense	OR5J2	NM_001005492.1	89	0,1,6496	CC,CT,TT		0.0116,0.0,0.0077	benign	256/313	55944860	1,12993	2201	4296	6497	SO:0001583	missense	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944860T>C	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"GPCR / Class A : Olfactory receptors"	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.767T>C	11.37:g.55944860T>C	ENSP00000310788:p.Ile256Thr						p.I256T	NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN			1	767	+	Esophageal squamous(21;0.00693)		256					Q6IEU5	Missense_Mutation	SNP	ENST00000312298.1	37	c.767T>C	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	G	8.157	0.788714	0.16258	0.0	1.16E-4	ENSG00000174957	ENST00000312298	T	0.40756	1.02	4.26	-0.334	0.12666	GPCR, rhodopsin-like superfamily (1);	0.181808	0.38778	N	0.001568	T	0.25680	0.0625	L	0.39020	1.185	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.10337	-1.0634	10	0.42905	T	0.14	.	4.3038	0.10937	0.0884:0.1091:0.2091:0.5933	.	256	Q8NH18	OR5J2_HUMAN	T	256	ENSP00000310788:I256T	ENSP00000310788:I256T	I	+	2	0	OR5J2	55701436	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-1.186000	0.03070	0.059000	0.16252	-0.912000	0.02778	ATC		0.448	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		4	63	0	0	0	0.000602	0	4	63					C	55944860	T	C	55944860	3	2	301	1	0	0	0	0	1	0	0	0	11165	1435	50	3	769	3	OR5J2	11	55944860	Missense_Mutation	SNP	T	TCGA-EM-A2CU-01A-12D-A17V-08		55944860	79061656	5	6410											
PDE2A	5138	broad.mit.edu	37	chr11	72353321	72353329	+	In_Frame_Del	DEL	GCGGCGGCG	GCGGCGGCG	-													caggctgtcggcgcatggctGcggcggcggcggcggctcgt					rs531903181|rs550495362		TCGA-EM-A2CU-01A-12D-A17V-08	TCGA-EM-A2CU-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788fbfaa-51bf-42a4-afa6-5b87ed04c2d5	f0c68997-7104-43fb-b949-3ea4b958aab9	g.chr11:72353321_72353329delGCGGCGGCG	ENST00000334456.5	-	2	358_366	c.113_121delCGCCGCCGC	c.(112-123)ccgccgccgcag>cag	p.PPP38del	PDE2A_ENST00000444035.2_In_Frame_Del_p.PPP29del|RP11-31L22.3_ENST00000540912.1_RNA|PDE2A_ENST00000540345.1_In_Frame_Del_p.PPP29del|PDE2A_ENST00000418754.2_In_Frame_Del_p.PPP38del|PDE2A_ENST00000376450.3_In_Frame_Del_p.PPP31del|PDE2A_ENST00000544570.1_In_Frame_Del_p.PPP31del|PDE2A_ENST00000540380.1_Intron	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	38				P -> L (in Ref. 2; AAS75513). {ECO:0000305}.	blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	GCGCATGGCTGCGGCGGCGGCGGCGGCTC	0.727																																						ENST00000334456.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36						c.(112-123)cag>c		phosphodiesterase 2A, cGMP-stimulated	Sildenafil(DB00203)|Sulindac(DB00605)																																			SO:0001651	inframe_deletion	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72353321_72353329delGCGGCGGCG	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"Phosphodiesterases"	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.113_121delCGCCGCCGC	11.37:g.72353321_72353329delGCGGCGGCG	ENSP00000334910:p.Pro38_Pro40del					PDE2A_ENST00000544570.1_In_Frame_Del_p.PPPQ31del|PDE2A_ENST00000540345.1_In_Frame_Del_p.PPPQ29del|PDE2A_ENST00000418754.2_In_Frame_Del_p.PPPQ38del|PDE2A_ENST00000376450.3_In_Frame_Del_p.PPPQ31del|PDE2A_ENST00000444035.2_In_Frame_Del_p.PPPQ29del|PDE2A_ENST00000540380.1_Intron	p.PPPQ38del	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		2	358_366	-			38					B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	In_Frame_Del	DEL	ENST00000334456.5	37	c.113_121delCGCCGCCGC	CCDS8216.1																																																																																				0.727	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		2	4						2	4	---	---	---	---	-	72353329	GCGGCGGCG	-	72353321	7	5	301	1	0	1	0	1	0	0	0	0	11636	1328	46	0	2824	0	PDE2A	11	72353321	In_Frame_Del	DEL	GCGGCGGCG	TCGA-EM-A2CU-01A-12D-A17V-08	16408461	72353321	62653195	6	6411											
RGS6	9628	broad.mit.edu	37	chr14	72961895	72961895	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaacaatatgtggaatatgAccctttgataacaccagctg	9	8	0	2			TCGA-EM-A2CU-01A-12D-A17V-08	TCGA-EM-A2CU-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788fbfaa-51bf-42a4-afa6-5b87ed04c2d5	f0c68997-7104-43fb-b949-3ea4b958aab9	g.chr14:72961895A>G	ENST00000553530.1	+	13	1097	c.890A>G	c.(889-891)gAc>gGc	p.D297G	RGS6_ENST00000343854.6_Intron|RGS6_ENST00000404301.2_Missense_Mutation_p.D297G|RGS6_ENST00000434263.2_Missense_Mutation_p.D228G|RGS6_ENST00000406236.4_Missense_Mutation_p.D297G|RGS6_ENST00000554782.1_Missense_Mutation_p.D158G|RGS6_ENST00000355512.6_Missense_Mutation_p.D297G|RGS6_ENST00000402788.2_Missense_Mutation_p.D297G|RGS6_ENST00000555571.1_Missense_Mutation_p.D297G|RGS6_ENST00000556437.1_Missense_Mutation_p.D297G|RGS6_ENST00000553525.1_Missense_Mutation_p.D297G|RGS6_ENST00000407322.4_Missense_Mutation_p.D297G	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	297	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		GTGGAATATGACCCTTTGATA	0.428																																					Ovarian(143;1926 2468 21071 48641)	ENST00000553530.1																			0				endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(889-891)gAc>gGc		regulator of G-protein signaling 6							220	193	202					14																	72961895		2203	4300	6503	SO:0001583	missense	9628				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr14:72961895A>G	AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"Regulators of G-protein signaling"	10002	protein-coding gene	gene with protein product		603894	"regulator of G-protein signalling 6"			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.890A>G	14.37:g.72961895A>G	ENSP00000452331:p.Asp297Gly					RGS6_ENST00000556437.1_Missense_Mutation_p.D297G|RGS6_ENST00000434263.2_Missense_Mutation_p.D228G|RGS6_ENST00000406236.4_Missense_Mutation_p.D297G|RGS6_ENST00000555571.1_Missense_Mutation_p.D297G|RGS6_ENST00000553525.1_Missense_Mutation_p.D297G|RGS6_ENST00000343854.6_Intron|RGS6_ENST00000404301.2_Missense_Mutation_p.D297G|RGS6_ENST00000402788.2_Missense_Mutation_p.D297G|RGS6_ENST00000355512.6_Missense_Mutation_p.D297G|RGS6_ENST00000407322.4_Missense_Mutation_p.D297G|RGS6_ENST00000554782.1_Missense_Mutation_p.D158G	p.D297G	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN		all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)	13	1097	+			297			G protein gamma.		C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Missense_Mutation	SNP	ENST00000553530.1	37	c.890A>G	CCDS9808.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.473542	0.84640	.	.	ENSG00000182732	ENST00000553525;ENST00000555571;ENST00000553530;ENST00000556437;ENST00000355512;ENST00000404301;ENST00000406236;ENST00000407322;ENST00000402788;ENST00000453330;ENST00000434263;ENST00000554782;ENST00000535521	T;T;T;T;T;T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	5.81	5.81	0.92471	G-protein gamma domain (4);	0.000000	0.85682	D	0.000000	D	0.91656	0.7363	M	0.91459	3.21	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;0.999;1.0;0.999	D	0.93351	0.6718	10	0.87932	D	0	-7.9205	15.1525	0.72713	1.0:0.0:0.0:0.0	.	228;297;302;297	B7Z7N5;P49758-2;Q59FJ8;P49758	.;.;.;RGS6_HUMAN	G	297;297;297;297;297;297;297;297;297;269;228;158;158	ENSP00000451030:D297G;ENSP00000450936:D297G;ENSP00000452331:D297G;ENSP00000451855:D297G;ENSP00000347699:D297G;ENSP00000385243:D297G;ENSP00000384218:D297G;ENSP00000384612:D297G;ENSP00000383953:D297G;ENSP00000412144:D228G;ENSP00000451912:D158G	ENSP00000347699:D297G	D	+	2	0	RGS6	72031648	1.000000	0.71417	0.781000	0.31783	0.855000	0.48748	8.126000	0.89592	2.217000	0.71921	0.533000	0.62120	GAC		0.428	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2			3	76	0	0	0	0.004672	0	3	76					G	72961895	A	G	72961895	3	3	301	1	0	0	0	0	1	0	0	0	13309	275	10	3	936	3	RGS6	14	72961895	Missense_Mutation	SNP	A	TCGA-EM-A2CU-01A-12D-A17V-08		72961895	34387645	7	6412											
CHTF18	63922	broad.mit.edu	37	chr16	845756	845756	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatcgcgccagccacgcgCagccgggccacgccccaggc	14	20	0	0			TCGA-EM-A2CU-01A-12D-A17V-08	TCGA-EM-A2CU-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788fbfaa-51bf-42a4-afa6-5b87ed04c2d5	f0c68997-7104-43fb-b949-3ea4b958aab9	g.chr16:845756C>T	ENST00000262315.9	+	17	2310	c.2247C>T	c.(2245-2247)cgC>cgT	p.R749R	CHTF18_ENST00000317063.6_Silent_p.R958R|CHTF18_ENST00000455171.2_Silent_p.R777R	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	749					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				CAGCCACGCGCAGCCGGGCCA	0.701																																						ENST00000317063.6																			0				endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11						c.(2872-2874)cgC>cgT		CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)							16	22	20					16																	845756		2099	4187	6286	SO:0001819	synonymous_variant	63922				cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr16:845756C>T	BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"ATPases / AAA-type"	18435	protein-coding gene	gene with protein product		613201	"chromosome 16 open reading frame 41"	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.2247C>T	16.37:g.845756C>T						CHTF18_ENST00000455171.2_Silent_p.R777R|CHTF18_ENST00000262315.9_Silent_p.R749R	p.R958R			Q8WVB6	CTF18_HUMAN			19	2874	+		Hepatocellular(780;0.00335)	749					B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Silent	SNP	ENST00000262315.9	37	c.2874C>T	CCDS45371.1																																																																																				0.701	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	NM_022092		5	13	0	0	0	0.000602	0	5	13					T	845756	C	T	845756	2	4	301	1	0	0	0	0	0	0	0	1	3414	697	25	2		2	CHTF18	16	845756	Silent	SNP	C	TCGA-EM-A2CU-01A-12D-A17V-08		845756	89508997	8	6413											
FERMT1	55612	broad.mit.edu	37	chr20	6065760	6065760	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccgtggtgacacaaaacattCtgggttcatatccatgtttt	8	9	2	1			TCGA-EM-A2CU-01A-12D-A17V-08	TCGA-EM-A2CU-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788fbfaa-51bf-42a4-afa6-5b87ed04c2d5	f0c68997-7104-43fb-b949-3ea4b958aab9	g.chr20:6065760C>G	ENST00000217289.4	-	12	2334	c.1546G>C	c.(1546-1548)Gaa>Caa	p.E516Q	FERMT1_ENST00000478194.1_5'UTR|FERMT1_ENST00000536936.1_Missense_Mutation_p.E259Q	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	516	FERM.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						ACAAAACATTCTGGGTTCATA	0.418																																						ENST00000217289.4																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17	GRCh37	CM074077	FERMT1	M		c.(1546-1548)Gaa>Caa		fermitin family member 1							139	125	130					20																	6065760		2203	4300	6503	SO:0001583	missense	55612				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding	g.chr20:6065760C>G	AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"Fermitins", "Pleckstrin homology (PH) domain containing"	15889	protein-coding gene	gene with protein product	"kindlin-1", "kinderlin"	607900	"chromosome 20 open reading frame 42", "fermitin family homolog 1 (Drosophila)"	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.1546G>C	20.37:g.6065760C>G	ENSP00000217289:p.Glu516Gln					FERMT1_ENST00000478194.1_5'UTR|FERMT1_ENST00000536936.1_Missense_Mutation_p.E259Q	p.E516Q	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN			12	2334	-			516			FERM.		D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Missense_Mutation	SNP	ENST00000217289.4	37	c.1546G>C	CCDS13098.1	.	.	.	.	.	.	.	.	.	.	c	18.04	3.535230	0.64972	.	.	ENSG00000101311	ENST00000217289;ENST00000536936;ENST00000339538	T;T	0.72167	-0.63;-0.63	5.17	5.17	0.71159	Band 4.1 domain (1);FERM central domain (2);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	T	0.81489	0.4833	L	0.59436	1.845	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	T	0.78934	-0.2008	10	0.33141	T	0.24	-25.0717	19.0514	0.93049	0.0:1.0:0.0:0.0	.	516	Q9BQL6	FERM1_HUMAN	Q	516;259;516	ENSP00000217289:E516Q;ENSP00000441063:E259Q	ENSP00000217289:E516Q	E	-	1	0	FERMT1	6013760	1.000000	0.71417	0.906000	0.35671	0.427000	0.31564	7.765000	0.85310	2.552000	0.86080	0.556000	0.70494	GAA		0.418	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	NM_017671		3	50	0	0	0	0.004672	0	3	50					G	6065760	C	G	6065760	3	3	301	1	0	0	0	0	1	0	0	0	5817	922	32	4	503	4	FERMT1	20	6065760	Missense_Mutation	SNP	C	TCGA-EM-A2CU-01A-12D-A17V-08		6065760	56959760	9	6414											
ARHGEF6	9459	broad.mit.edu	37	chrX	135827439	135827439	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctagaaactgctccctgtggGtttgtctgagaagtattagc	11	8	1	2			TCGA-EM-A2CU-01A-12D-A17V-08	TCGA-EM-A2CU-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788fbfaa-51bf-42a4-afa6-5b87ed04c2d5	f0c68997-7104-43fb-b949-3ea4b958aab9	g.chrX:135827439G>A	ENST00000250617.6	-	4	1607	c.402C>T	c.(400-402)aaC>aaT	p.N134N	ARHGEF6_ENST00000370622.1_5'UTR|ARHGEF6_ENST00000370620.1_5'UTR|ARHGEF6_ENST00000535227.1_5'UTR	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	134					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					CTCCCTGTGGGTTTGTCTGAG	0.433																																						ENST00000250617.6																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38						c.(400-402)aaC>aaT		Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6							224	201	209					X																	135827439		2203	4300	6503	SO:0001819	synonymous_variant	9459				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chrX:135827439G>A	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	685	protein-coding gene	gene with protein product	"Rac/Cdc42 guanine exchange factor (GEF) 6", "PAK-interacting exchange factor, alpha", "rho guanine nucleotide exchange factor 6"	300267	"mental retardation, X-linked 46"	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.402C>T	X.37:g.135827439G>A						ARHGEF6_ENST00000370620.1_5'UTR|ARHGEF6_ENST00000370622.1_5'UTR|ARHGEF6_ENST00000535227.1_5'UTR	p.N134N	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN			4	1607	-	Acute lymphoblastic leukemia(192;0.000127)		134					A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Silent	SNP	ENST00000250617.6	37	c.402C>T	CCDS14660.1																																																																																				0.433	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840		53	92	0	0	0	0.00361	0	53	92					A	135827439	G	A	135827439	2	1	301	1	0	0	0	0	0	0	0	1	910	1252	44	2		2	ARHGEF6	23	135827439	Silent	SNP	G	TCGA-EM-A2CU-01A-12D-A17V-08		135827439	19443121	10	6415											
FLG	2312	broad.mit.edu	37	chr1	152275656	152275656	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatcgcggtgagaggatccGgggtgtctggagccatctct	16	9	2	1	rs147335121		TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr1:152275656G>A	ENST00000368799.1	-	3	11741	c.11706C>T	c.(11704-11706)ccC>ccT	p.P3902P	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3902	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGAGGATCCGGGGTGTCTGG	0.517									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(11704-11706)ccC>ccT		filaggrin		G		1,4405	2.1+/-5.4	0,1,2202	89	91	91		11706	-3.4	0.0	1	dbSNP_134	91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FLG	NM_002016.1		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		3902/4062	152275656	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152275656G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11706C>T	1.37:g.152275656G>A						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.P3902P	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11741	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3902			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.11706C>T	CCDS30860.1																																																																																				0.517	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		5	95	0	0	0	0.014758	0	5	95					A	152275656	G	A	152275656	2	1	302	1	0	0	0	0	0	0	0	1	5922	1103	39	1		1	FLG	1	152275656	Silent	SNP	G	TCGA-EM-A2OV-01A-11D-A202-08		152275656	96974965	1	6416											
DCST2	127579	broad.mit.edu	37	chr1	155004126	155004126	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taggcttgtggtatgaccatCatgcagctgtccttggcatc	11	10	1	1			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr1:155004126C>T	ENST00000368424.3	-	4	721	c.663G>A	c.(661-663)atG>atA	p.M221I	DCST1_ENST00000368419.2_5'Flank|DCST2_ENST00000295536.5_Missense_Mutation_p.M221I|DCST1_ENST00000295542.1_5'Flank|DCST1_ENST00000392480.1_5'Flank|DCST1_ENST00000423025.2_5'Flank	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	221						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTATGACCATCATGCAGCTGT	0.567																																						ENST00000368424.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38						c.(661-663)atG>atA		DC-STAMP domain containing 2							156	119	131					1																	155004126		2203	4300	6503	SO:0001583	missense	127579					integral to membrane		g.chr1:155004126C>T	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.663G>A	1.37:g.155004126C>T	ENSP00000357409:p.Met221Ile					DCST2_ENST00000295536.5_Missense_Mutation_p.M221I	p.M221I	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		4	721	-	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		221					Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	ENST00000368424.3	37	c.663G>A	CCDS1082.2	.	.	.	.	.	.	.	.	.	.	C	11.75	1.731635	0.30684	.	.	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.24350	1.86;1.9	5.67	5.67	0.87782	.	0.359362	0.27720	N	0.018138	T	0.11410	0.0278	L	0.34521	1.04	0.30688	N	0.751622	B	0.25667	0.131	B	0.21546	0.035	T	0.05533	-1.0879	10	0.44086	T	0.13	-32.209	16.674	0.85274	0.0:1.0:0.0:0.0	.	221	Q5T1A1	DCST2_HUMAN	I	221	ENSP00000357409:M221I;ENSP00000295536:M221I	ENSP00000295536:M221I	M	-	3	0	DCST2	153270750	0.985000	0.35326	0.921000	0.36526	0.026000	0.11368	2.745000	0.47459	2.678000	0.91216	0.655000	0.94253	ATG		0.567	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		10	112	0	0	0	0.069234	0	10	112					T	155004126	C	T	155004126	3	4	302	1	0	0	0	0	1	0	0	0	4303	826	29	2	1706	2	DCST2	1	155004126	Missense_Mutation	SNP	C	TCGA-EM-A2OV-01A-11D-A202-08	2728470	155004126	94246495	2	6417											
APOB	338	broad.mit.edu	37	chr2	21231425	21231425	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tccctatgtcagcatttgcaTctaatgtgaaaagaggagat	9	7	2	3			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr2:21231425T>A	ENST00000233242.1	-	26	8442	c.8315A>T	c.(8314-8316)gAt>gTt	p.D2772V		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2772					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCATTTGCATCTAATGTGAA	0.428																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(8314-8316)gAt>gTt		apolipoprotein B	Atorvastatin(DB01076)						129	129	129					2																	21231425		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21231425T>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8315A>T	2.37:g.21231425T>A	ENSP00000233242:p.Asp2772Val						p.D2772V	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	8442	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2772					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.8315A>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	T	8.749	0.920741	0.17982	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00730	5.77	5.37	5.37	0.77165	.	0.000000	0.48767	D	0.000161	T	0.01124	0.0037	M	0.65975	2.015	0.28069	N	0.93266	P	0.40731	0.728	B	0.31946	0.138	T	0.46428	-0.9192	10	0.46703	T	0.11	.	10.803	0.46500	0.0:0.0:0.2876:0.7124	.	2772	P04114	APOB_HUMAN	V	2772	ENSP00000233242:D2772V	ENSP00000233242:D2772V	D	-	2	0	APOB	21084930	0.077000	0.21312	0.429000	0.26710	0.032000	0.12392	1.583000	0.36579	2.037000	0.60232	0.459000	0.35465	GAT		0.428	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			10	174	0	0	0	0.080935	0	10	174					A	21231425	T	A	21231425	3	1	302	1	0	0	0	0	1	0	0	0	785	1435	50	5	5392	5	APOB	2	21231425	Missense_Mutation	SNP	T	TCGA-EM-A2OV-01A-11D-A202-08		21231425	221967948	3	6418											
YSK4	80122	broad.mit.edu	37	chr2	135744495	135744495	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gttgaattgatttctttgaaCatatcactatacttaagatc	5	6	2	4			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr2:135744495C>G	ENST00000375845.3	-	7	1977	c.1947G>C	c.(1945-1947)atG>atC	p.M649I	MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.M536I|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.M666I|MAP3K19_ENST00000375844.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	649							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TTTCTTTGAACATATCACTAT	0.393																																						ENST00000375845.3																			0											c.(1945-1947)atG>atC		mitogen-activated protein kinase kinase kinase 19							129	132	131					2																	135744495		2203	4300	6503	SO:0001583	missense	80122							g.chr2:135744495C>G	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1947G>C	2.37:g.135744495C>G	ENSP00000365005:p.Met649Ile					MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.M536I|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Missense_Mutation_p.M666I|MAP3K19_ENST00000392918.3_Intron	p.M649I	NM_025052.3	NP_079328.3					7	1977	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.1947G>C	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566222	0.65651	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365	T;T;T;T	0.79749	-1.3;-1.22;1.04;-1.28	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000006	D	0.85605	0.5735	L	0.47190	1.495	0.80722	D	1	D;D;D	0.60575	0.976;0.988;0.959	P;D;P	0.66351	0.81;0.943;0.65	D	0.86518	0.1814	10	0.87932	D	0	.	14.5995	0.68429	0.1458:0.8542:0.0:0.0	.	536;666;649	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	I	649;536;666;39	ENSP00000365005:M649I;ENSP00000351140:M536I;ENSP00000376647:M666I;ENSP00000392827:M39I	ENSP00000351140:M536I	M	-	3	0	YSK4	135460965	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	4.538000	0.60650	2.667000	0.90743	0.561000	0.74099	ATG		0.393	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		3	221	0	0	0	0.009096	0	3	221					G	135744495	C	G	135744495	3	3	302	1	0	0	0	0	1	0	0	0	17492	478	17	4	2055	4	YSK4	2	135744495	Missense_Mutation	SNP	C	TCGA-EM-A2OV-01A-11D-A202-08	114513070	135744495	107454878	4	6419											
CD28	940	broad.mit.edu	37	chr2	204594418	204594418	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcccggaccttctaagcccTtttgggtgctggtggtggtt	13	10	1	0			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr2:204594418T>C	ENST00000324106.8	+	3	606	c.457T>C	c.(457-459)Ttt>Ctt	p.F153L	CD28_ENST00000374481.3_Missense_Mutation_p.F69L|CD28_ENST00000458610.2_Missense_Mutation_p.F167L|CD28_ENST00000374478.4_Missense_Mutation_p.F34L	NM_001243077.1|NM_006139.3	NP_001230006.1|NP_006130.1	P10747	CD28_HUMAN	CD28 molecule	153					apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cytokine biosynthetic process (GO:0042089)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|negative thymic T cell selection (GO:0045060)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of inflammatory response to antigenic stimulus (GO:0002863)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of mitosis (GO:0045840)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of viral genome replication (GO:0045070)|regulation of defense response to virus by virus (GO:0050690)|regulatory T cell differentiation (GO:0045066)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						TTCTAAGCCCTTTTGGGTGCT	0.443																																						ENST00000374481.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(205-207)Ttt>Ctt		CD28 molecule							201	191	195					2																	204594418		2203	4300	6503	SO:0001583	missense	940				cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity	g.chr2:204594418T>C	J02988	CCDS2361.1, CCDS58749.1	2q33	2013-01-11	2006-03-28		ENSG00000178562	ENSG00000178562		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1653	protein-coding gene	gene with protein product	"T-cell-specific surface glycoprotein"	186760	"CD28 antigen (Tp44)"			1355979	Standard	NM_006139		Approved		uc002vah.4	P10747	OTTHUMG00000132878	ENST00000324106.8:c.457T>C	2.37:g.204594418T>C	ENSP00000324890:p.Phe153Leu					CD28_ENST00000458610.2_Missense_Mutation_p.F167L|CD28_ENST00000374478.4_Missense_Mutation_p.F34L|CD28_ENST00000324106.7_Missense_Mutation_p.F153L	p.F69L			P10747	CD28_HUMAN			4	427	+			153			Ig-like V-type.		A8KAC1|Q13964|Q52M23|Q70WG0|Q8NI54|Q8NI55|Q8NI56|Q8WXJ2|Q9BYV0	Missense_Mutation	SNP	ENST00000324106.8	37	c.205T>C	CCDS2361.1	.	.	.	.	.	.	.	.	.	.	T	5.751	0.322926	0.10900	.	.	ENSG00000178562	ENST00000374481;ENST00000458610;ENST00000324106;ENST00000374478	T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43	5.59	5.59	0.84812	.	0.330618	0.33382	N	0.004978	T	0.79834	0.4514	M	0.80982	2.52	0.38004	D	0.934333	P;B	0.36315	0.547;0.007	B;B	0.33339	0.162;0.009	T	0.81521	-0.0895	10	0.33141	T	0.24	-40.368	13.437	0.61090	0.0:0.0:0.0:1.0	.	34;153	P10747-2;P10747	.;CD28_HUMAN	L	69;167;153;34	ENSP00000363605:F69L;ENSP00000393648:F167L;ENSP00000324890:F153L;ENSP00000363602:F34L	ENSP00000324890:F153L	F	+	1	0	CD28	204302663	0.998000	0.40836	0.918000	0.36340	0.031000	0.12232	4.577000	0.60922	2.254000	0.74563	0.459000	0.35465	TTT		0.443	CD28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256366.3	NM_006139		3	186	0	0	0	0.004672	0	3	186					C	204594418	T	C	204594418	3	2	302	1	0	0	0	0	1	0	0	0	2993	1609	56	3	467	3	CD28	2	204594418	Missense_Mutation	SNP	T	TCGA-EM-A2OV-01A-11D-A202-08	68849923	204594418	38604955	5	6420											
KIF1A	547	broad.mit.edu	37	chr2	241724413	241724413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccactcactcaccttctccGtggtgatattggtctctgcg	9	14	4	1			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr2:241724413G>A	ENST00000320389.7	-	7	871	c.713C>T	c.(712-714)aCg>aTg	p.T238M	KIF1A_ENST00000498729.2_Missense_Mutation_p.T238M	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	238	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CACCTTCTCCGTGGTGATATT	0.612																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(712-714)aCg>aTg		kinesin family member 1A							213	223	219					2																	241724413		2199	4299	6498	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241724413G>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.713C>T	2.37:g.241724413G>A	ENSP00000322791:p.Thr238Met					KIF1A_ENST00000320389.7_Missense_Mutation_p.T238M	p.T238M	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	7	959	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	238			Kinesin-motor.		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.713C>T	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894705	0.52121	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.75477	-0.94;-0.94;-0.94	4.04	4.04	0.47022	Kinesin, motor domain (4);	0.192157	0.43747	U	0.000538	D	0.82536	0.5058	M	0.74881	2.28	0.80722	D	1	D;D;D	0.69078	0.997;0.993;0.981	P;P;P	0.56434	0.798;0.581;0.696	D	0.85164	0.0994	10	0.52906	T	0.07	.	16.5652	0.84577	0.0:0.0:1.0:0.0	.	238;238;238	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	M	238	ENSP00000322791:T238M;ENSP00000438388:T238M;ENSP00000384231:T238M	ENSP00000322791:T238M	T	-	2	0	KIF1A	241373086	1.000000	0.71417	0.974000	0.42286	0.282000	0.26991	9.441000	0.97557	1.965000	0.57142	0.563000	0.77884	ACG		0.612	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		4	165	0	0	0	0.009096	0	4	165					A	241724413	G	A	241724413	3	1	302	1	0	0	0	0	1	0	0	0	8283	1145	40	1	4523	1	KIF1A	2	241724413	Missense_Mutation	SNP	G	TCGA-EM-A2OV-01A-11D-A202-08	37129995	241724413	1474960	6	6421											
GRIP2	80852	broad.mit.edu	37	chr3	14558718	14558718	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaaaagggagttgaagacAaggctggggagatgagagca	18	3	0	4			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr3:14558718A>G	ENST00000273083.3	-	0	1224							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						AGTTGAAGACAAGGCTGGGGA	0.612																																						ENST00000273083.3																			0				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25								glutamate receptor interacting protein 2							93	104	100					3																	14558718		2035	4180	6215			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14558718A>G	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14558718A>G										Q9C0E4	GRIP2_HUMAN			0	1224	-								Q8TEH9|Q9H7H3	RNA	SNP	ENST00000273083.3	37																																																																																						0.612	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		4	52	0	0	0	0.009096	0	4	52					G	14558718	A	G	14558718	1	3	302	0	1	0	0	0	0	0	0	0	6788	131	5	3		3	GRIP2	3	14558718	RNA	SNP	A	TCGA-EM-A2OV-01A-11D-A202-08		14558718	183463712	7	6422											
EPHB1	2047	broad.mit.edu	37	chr3	134960104	134960104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgggaagtcatgtcatttGgagagagaccctattgggat	14	5	2	2			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr3:134960104G>A	ENST00000398015.3	+	13	2831	c.2461G>A	c.(2461-2463)Gga>Aga	p.G821R	EPHB1_ENST00000493838.1_Missense_Mutation_p.G382R	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	821	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CATGTCATTTGGAGAGAGACC	0.517																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(2461-2463)Gga>Aga		EPH receptor B1							282	287	285					3																	134960104		2111	4265	6376	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134960104G>A	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2461G>A	3.37:g.134960104G>A	ENSP00000381097:p.Gly821Arg					EPHB1_ENST00000493838.1_Missense_Mutation_p.G382R	p.G821R	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			13	2831	+			821			Protein kinase.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.2461G>A	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	G	32	5.185158	0.94885	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.71461	-0.57;-0.57	5.02	5.02	0.67125	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.060752	0.64402	D	0.000003	D	0.84822	0.5557	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86653	0.1899	10	0.87932	D	0	.	18.5321	0.90996	0.0:0.0:1.0:0.0	.	821	P54762	EPHB1_HUMAN	R	821;382	ENSP00000381097:G821R;ENSP00000419574:G382R	ENSP00000381097:G821R	G	+	1	0	EPHB1	136442794	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.657000	0.98554	2.608000	0.88229	0.655000	0.94253	GGA		0.517	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		112	207	0	0	0	0.048971	0	112	207					A	134960104	G	A	134960104	3	1	302	1	0	0	0	0	1	0	0	0	5174	1349	47	2	2511	2	EPHB1	3	134960104	Missense_Mutation	SNP	G	TCGA-EM-A2OV-01A-11D-A202-08	120401386	134960104	63062326	8	6423											
SMARCA5	8467	broad.mit.edu	37	chr4	144466691	144466691	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctccacgtttatttgaattActggaaaaagaaattctgtt	6	7	1	2			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr4:144466691A>G	ENST00000283131.3	+	18	2814	c.2352A>G	c.(2350-2352)ttA>ttG	p.L784L		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	784					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					TATTTGAATTACTGGAAAAAG	0.338																																						ENST00000283131.3																		EWSR1/SMARCA5(2)	0				endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(2350-2352)ttA>ttG		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5							64	69	67					4																	144466691		2203	4300	6503	SO:0001819	synonymous_variant	8467				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding	g.chr4:144466691A>G	AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.2352A>G	4.37:g.144466691A>G							p.L784L	NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN			18	2814	+	all_hematologic(180;0.158)		784						Silent	SNP	ENST00000283131.3	37	c.2352A>G	CCDS3761.1																																																																																				0.338	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			3	68	0	0	0	0.009096	0	3	68					G	144466691	A	G	144466691	2	3	302	1	0	0	0	0	0	0	0	1	14771	388	14	3		3	SMARCA5	4	144466691	Silent	SNP	A	TCGA-EM-A2OV-01A-11D-A202-08		144466691	46687585	9	6424											
ZBTB22	9278	broad.mit.edu	37	chr6	33283609	33283609	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggggctcactcagggtaCggacatcacttatgctgagg	14	10	3	1	rs147840428		TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr6:33283609C>T	ENST00000431845.2	-	2	1236	c.1085G>A	c.(1084-1086)cGt>cAt	p.R362H	TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000456592.2_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.R362H|TAPBP_ENST00000489157.1_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	362					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)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						ACTCAGGGTACGGACATCACT	0.577													C|||	1	0.000199681	0	0	5008	,	,		17836	0		0.001	False		,,,				2504	0					ENST00000431845.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						c.(1084-1086)cGt>cAt		zinc finger and BTB domain containing 22							110	104	106					6																	33283609		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33283609C>T	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13085	protein-coding gene	gene with protein product		611439	"zinc finger protein 297"	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.1085G>A	6.37:g.33283609C>T	ENSP00000407545:p.Arg362His					ZBTB22_ENST00000418724.1_Missense_Mutation_p.R362H	p.R362H	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN			2	1236	-			362					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	c.1085G>A	CCDS4775.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	14.73	2.624012	0.46840	.	.	ENSG00000236104	ENST00000418724;ENST00000431845	T;T	0.10573	2.86;2.86	3.7	3.7	0.42460	.	.	.	.	.	T	0.10208	0.0250	L	0.39898	1.24	0.43569	D	0.995891	D	0.71674	0.998	P	0.54346	0.749	T	0.03695	-1.1012	9	0.62326	D	0.03	.	12.9838	0.58579	0.0:1.0:0.0:0.0	.	362	O15209	ZBT22_HUMAN	H	362	ENSP00000404403:R362H;ENSP00000407545:R362H	ENSP00000404403:R362H	R	-	2	0	ZBTB22	33391587	1.000000	0.71417	0.985000	0.45067	0.775000	0.43874	4.254000	0.58798	1.909000	0.55274	0.448000	0.29417	CGT		0.577	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			4	126	0	0	0	0.009096	0	4	126					T	33283609	C	T	33283609	3	4	302	1	0	0	0	0	1	0	0	0	17527	536	19	1	823	1	ZBTB22	6	33283609	Missense_Mutation	SNP	C	TCGA-EM-A2OV-01A-11D-A202-08		33283609	137831458	10	6425											
RIMS1	22999	broad.mit.edu	37	chr6	72968798	72968798	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagatgtggatagtcagtatTtatcagaacaagacaggtat	11	4	2	3			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr6:72968798T>G	ENST00000521978.1	+	18	3037	c.3037T>G	c.(3037-3039)Tta>Gta	p.L1013V	RIMS1_ENST00000348717.5_Missense_Mutation_p.L1012V|RIMS1_ENST00000518273.1_Missense_Mutation_p.L1013V|RIMS1_ENST00000517827.1_Missense_Mutation_p.L472V|RIMS1_ENST00000425662.2_Missense_Mutation_p.L406V|RIMS1_ENST00000401910.3_Missense_Mutation_p.L486V|RIMS1_ENST00000522291.1_Missense_Mutation_p.L1012V|RIMS1_ENST00000523963.1_Missense_Mutation_p.L487V|RIMS1_ENST00000491071.2_Missense_Mutation_p.L1013V|RIMS1_ENST00000517960.1_Missense_Mutation_p.L1012V|RIMS1_ENST00000520567.1_Missense_Mutation_p.L1012V|RIMS1_ENST00000264839.7_Missense_Mutation_p.L1013V|RIMS1_ENST00000538414.1_5'UTR	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1013					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TAGTCAGTATTTATCAGAACA	0.363																																						ENST00000264839.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102						c.(3037-3039)Tta>Gta		regulating synaptic membrane exocytosis 1							104	102	103					6																	72968798		1889	4113	6002	SO:0001583	missense	0				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72968798T>G	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.3037T>G	6.37:g.72968798T>G	ENSP00000428417:p.Leu1013Val					RIMS1_ENST00000348717.5_Missense_Mutation_p.L1012V|RIMS1_ENST00000425662.2_Missense_Mutation_p.L406V|RIMS1_ENST00000521978.1_Missense_Mutation_p.L1013V|RIMS1_ENST00000520567.1_Missense_Mutation_p.L1012V|RIMS1_ENST00000401910.3_Missense_Mutation_p.L486V|RIMS1_ENST00000518273.1_Missense_Mutation_p.L1013V|RIMS1_ENST00000517827.1_Missense_Mutation_p.L472V|RIMS1_ENST00000517960.1_Missense_Mutation_p.L1012V|RIMS1_ENST00000491071.2_Missense_Mutation_p.L1013V|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000522291.1_Missense_Mutation_p.L1012V|RIMS1_ENST00000523963.1_Missense_Mutation_p.L487V	p.L1013V			Q86UR5	RIMS1_HUMAN			18	3037	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	1013					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.3037T>G	CCDS47449.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	11.79|11.79|11.79	1.743339|1.743339|1.743339	0.30865|0.30865|0.30865	.|.|.	.|.|.	ENSG00000079841|ENSG00000079841|ENSG00000079841	ENST00000517433|ENST00000522211|ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827;ENST00000370420	.|.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|.|0.17370	.|.|2.55;2.62;2.59;2.62;2.68;2.69;2.6;2.59;2.68;2.69;2.68;2.46;2.67;2.28	5.83|5.83|5.83	4.67|4.67|4.67	0.58626|0.58626|0.58626	.|.|.	.|.|0.120924	.|.|0.36555	.|.|N	.|.|0.002523	T|T|T	0.16214|0.16214|0.16214	0.0390|0.0390|0.0390	L|L|L	0.34521|0.34521|0.34521	1.04|1.04|1.04	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|B;B;B;P;B;P;B;B;D;B;P;P	.|.|0.58268	.|.|0.035;0.256;0.437;0.633;0.005;0.745;0.204;0.047;0.982;0.003;0.58;0.77	.|.|B;B;B;B;B;B;B;B;D;B;B;B	.|.|0.67548	.|.|0.01;0.052;0.207;0.184;0.006;0.276;0.046;0.024;0.952;0.01;0.137;0.207	T|T|T	0.02512|0.02512|0.02512	-1.1148|-1.1148|-1.1148	5|5|10	.|.|0.33940	.|.|T	.|.|0.23	-4.754|-4.754|-4.754	12.0236|12.0236|12.0236	0.53358|0.53358|0.53358	0.0:0.0674:0.0:0.9326|0.0:0.0674:0.0:0.9326|0.0:0.0674:0.0:0.9326	.|.|.	.|.|472;487;1013;472;486;1012;265;1013;1012;266;1013;1013	.|.|B7Z3S3;E9PHF5;E9PHR1;B7Z9Z3;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5	.|.|.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN	C|M|V	586|103|1013;1013;1013;1012;1013;1012;1013;1012;1013;1012;1012;1013;486;487;406;406;472;238	.|.|ENSP00000430101:L1013V;ENSP00000275037:L1012V;ENSP00000264839:L1013V;ENSP00000429959:L1012V;ENSP00000430408:L1013V;ENSP00000430502:L1012V;ENSP00000430932:L1012V;ENSP00000428417:L1013V;ENSP00000385649:L486V;ENSP00000428328:L487V;ENSP00000411235:L406V;ENSP00000389503:L406V;ENSP00000428367:L472V;ENSP00000359448:L238V	.|.|ENSP00000264839:L1013V	F|I|L	+|+|+	2|3|1	0|3|2	RIMS1|RIMS1|RIMS1	73025519|73025519|73025519	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.880000|0.880000|0.880000	0.50808|0.50808|0.50808	2.470000|2.470000|2.470000	0.45119|0.45119|0.45119	1.035000|1.035000|1.035000	0.39972|0.39972|0.39972	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	TTT|ATT|TTA		0.363	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			20	37	0	0	0	0.043863	0	20	37					G	72968798	T	G	72968798	3	3	302	1	0	0	0	0	1	0	0	0	13367	1838	64	5	3270	5	RIMS1	6	72968798	Missense_Mutation	SNP	T	TCGA-EM-A2OV-01A-11D-A202-08	39685189	72968798	98146269	11	6426											
MTHFD1L	25902	broad.mit.edu	37	chr6	151239804	151239804	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctgcagctctgcgaattcaGgtttgttcaacatagctgtc	10	10	3	0			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr6:151239804G>C	ENST00000367321.3	+	9	1258	c.984G>C	c.(982-984)caG>caC	p.Q328H		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	328	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				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)		TGCGAATTCAGGTTTGTTCAA	0.403																																						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.e9+1		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like							165	163	164					6																	151239804		2203	4300	6503	SO:0001630	splice_region_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.chr6:151239804G>C	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.984+1G>C	6.37:g.151239804G>C							p.Q328_splice	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)	9	1258	+		Ovarian(120;0.128)	328			Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Splice_Site	SNP	ENST00000367321.3	37	c.984_splice	CCDS5228.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.03|16.03	3.008299|3.008299	0.54361|0.54361	.|.	.|.	ENSG00000120254|ENSG00000120254	ENST00000367321|ENST00000367308	T|.	0.12361|.	2.69|.	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	0.112203|.	0.64402|.	D|.	0.000007|.	T|T	0.60869|0.60869	0.2302|0.2302	L|L	0.48642|0.48642	1.525|1.525	0.80722|0.80722	D|D	1|1	B;B;B|.	0.13594|.	0.008;0.007;0.008|.	B;B;B|.	0.13407|.	0.009;0.009;0.009|.	T|T	0.57242|0.57242	-0.7845|-0.7845	10|5	0.62326|.	D|.	0.03|.	.|.	18.1087|18.1087	0.89528|0.89528	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	329;83;328|.	B7ZM99;B2RD24;Q6UB35|.	.;.;C1TM_HUMAN|.	H|T	328|289	ENSP00000356290:Q328H|.	ENSP00000356290:Q328H|.	Q|R	+|+	3|2	2|0	MTHFD1L|MTHFD1L	151281497|151281497	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.791000|0.791000	0.44710|0.44710	5.401000|5.401000	0.66326|0.66326	2.609000|2.609000	0.88269|0.88269	0.655000|0.655000	0.94253|0.94253	CAG|AGA		0.403	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440	Missense_Mutation	4	114	0	0	0	0.009096	0	4	114					C	151239804	G	C	151239804	5	2	302	1	0	0	0	0	0	0	1	0	9928	1014	35	4	1018	4	MTHFD1L	6	151239804	Splice_Site	SNP	G	TCGA-EM-A2OV-01A-11D-A202-08	78271006	151239804	19875263	12	6427											
PLG	5340	broad.mit.edu	37	chr6	161134119	161134119	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgctatactactgatccagAaaagagatatgactactgcg	9	8	0	4			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr6:161134119A>C	ENST00000308192.9	+	5	572	c.509A>C	c.(508-510)gAa>gCa	p.E170A	PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	170	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ACTGATCCAGAAAAGAGATAT	0.463																																						ENST00000308192.9																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59						c.(508-510)gAa>gCa		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						148	144	146					6																	161134119		2203	4300	6503	SO:0001583	missense	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161134119A>C	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.509A>C	6.37:g.161134119A>C	ENSP00000308938:p.Glu170Ala					PLG_ENST00000462918.1_3'UTR	p.E170A	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	5	572	+			170			Kringle 1.		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	c.509A>C	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	A	0.032	-1.327384	0.01309	.	.	ENSG00000122194	ENST00000308192	T	0.66638	-0.22	5.11	1.19	0.21007	Kringle (4);Kringle-like fold (1);	0.657771	0.12294	U	0.481833	T	0.24431	0.0592	L	0.28694	0.88	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.20706	-1.0267	10	0.17832	T	0.49	.	5.0286	0.14398	0.6221:0.1445:0.2334:0.0	.	170	P00747	PLMN_HUMAN	A	170	ENSP00000308938:E170A	ENSP00000308938:E170A	E	+	2	0	PLG	161054109	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.824000	0.27379	0.031000	0.15407	0.528000	0.53228	GAA		0.463	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		5	197	0	0	0	0.021553	0	5	197					C	161134119	A	C	161134119	3	2	302	1	0	0	0	0	1	0	0	0	12086	246	9	5	531	5	PLG	6	161134119	Missense_Mutation	SNP	A	TCGA-EM-A2OV-01A-11D-A202-08	9894315	161134119	9980948	13	6428											
PFKP	5214	broad.mit.edu	37	chr10	3177999	3177999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaacgttatttttcaacctGtggcagagctgaagaagcaa	10	7	1	3			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr10:3177999G>A	ENST00000381125.4	+	21	2270	c.2194G>A	c.(2194-2196)Gtg>Atg	p.V732M	PITRM1_ENST00000464395.1_5'Flank|PFKP_ENST00000381075.2_Missense_Mutation_p.V724M|PFKP_ENST00000381072.1_Missense_Mutation_p.V150M	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	732	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		TTTTCAACCTGTGGCAGAGCT	0.398																																						ENST00000381075.2																			0				breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(2170-2172)Gtg>Atg		phosphofructokinase, platelet							78	77	77					10																	3177999		2203	4300	6503	SO:0001583	missense	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3177999G>A	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"Phosphofructokinase, platelet type"	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.2194G>A	10.37:g.3177999G>A	ENSP00000370517:p.Val732Met					PFKP_ENST00000381072.1_Missense_Mutation_p.V150M|PFKP_ENST00000381125.4_Missense_Mutation_p.V732M	p.V724M	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	23	2394	+			732					B3KS15|Q5VSR7|Q5VSR8	Missense_Mutation	SNP	ENST00000381125.4	37	c.2170G>A	CCDS7059.1	.	.	.	.	.	.	.	.	.	.	g	8.074	0.770979	0.15983	.	.	ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075;ENST00000381072	T;T;T	0.80909	-1.43;-1.43;-1.43	4.92	4.01	0.46588	Phosphofructokinase domain (1);	0.061361	0.64402	D	0.000004	D	0.85729	0.5764	M	0.64170	1.965	0.58432	D	0.999992	D;D;D	0.63046	0.978;0.978;0.992	P;P;P	0.58620	0.833;0.833;0.842	D	0.86571	0.1847	10	0.56958	D	0.05	.	15.0356	0.71744	0.0:0.152:0.848:0.0	.	724;724;732	B3KS15;Q5VSR7;Q01813	.;.;K6PP_HUMAN	M	732;721;724;150	ENSP00000370517:V732M;ENSP00000370465:V724M;ENSP00000370462:V150M	ENSP00000370462:V150M	V	+	1	0	PFKP	3167999	1.000000	0.71417	0.708000	0.30435	0.424000	0.31475	4.233000	0.58651	1.052000	0.40392	0.462000	0.41574	GTG		0.398	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		4	68	0	0	0	0.021553	0	4	68					A	3177999	G	A	3177999	3	1	302	1	0	0	0	0	1	0	0	0	11766	1377	48	2	2276	2	PFKP	10	3177999	Missense_Mutation	SNP	G	TCGA-EM-A2OV-01A-11D-A202-08		3177999	132356748	14	6429											
TET1	80312	broad.mit.edu	37	chr10	70411612	70411612	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttccacagatcgagttaTacaaaaagacaaaggcccat	6	11	0	2			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr10:70411612T>C	ENST00000373644.4	+	5	4495	c.4286T>C	c.(4285-4287)aTa>aCa	p.I1429T		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1429					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GATCGAGTTATACAAAAAGAC	0.428																																						ENST00000373644.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(4285-4287)aTa>aCa		tet methylcytosine dioxygenase 1							124	132	129					10																	70411612		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70411612T>C	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.4286T>C	10.37:g.70411612T>C	ENSP00000362748:p.Ile1429Thr						p.I1429T	NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN			5	4495	+			1429					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.4286T>C	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	T	16.70	3.196304	0.58126	.	.	ENSG00000138336	ENST00000373644	T	0.43688	0.94	5.62	2.04	0.26737	TET cysteine-rich domain (1);	0.489617	0.19446	N	0.114069	T	0.25568	0.0622	N	0.24115	0.695	0.26835	N	0.968506	B	0.33103	0.397	B	0.31751	0.135	T	0.10800	-1.0614	10	0.33141	T	0.24	.	8.4162	0.32672	0.0:0.2285:0.0:0.7715	.	1429	Q8NFU7	TET1_HUMAN	T	1429	ENSP00000362748:I1429T	ENSP00000362748:I1429T	I	+	2	0	TET1	70081618	1.000000	0.71417	0.983000	0.44433	0.975000	0.68041	2.972000	0.49256	0.102000	0.17638	0.528000	0.53228	ATA		0.428	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		7	131	0	0	0	0.047766	0	7	131					C	70411612	T	C	70411612	3	2	302	1	0	0	0	0	1	0	0	0	15766	1406	49	3	4300	3	TET1	10	70411612	Missense_Mutation	SNP	T	TCGA-EM-A2OV-01A-11D-A202-08	67233613	70411612	65123135	15	6430											
PLCE1	51196	broad.mit.edu	37	chr10	95849061	95849061	+	Intron	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgaaggttggttggctcttCccgctctctgaggtacccaa	11	11	2	2			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr10:95849061C>T	ENST00000371380.3	+	2	1441				PLCE1_ENST00000371385.3_Silent_p.F70F|PLCE1_ENST00000371375.1_Silent_p.F70F|RP11-429H9.4_ENST00000438899.1_RNA|PLCE1_ENST00000260766.3_Intron			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1						activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GTTGGCTCTTCCCGCTCTCTG	0.512																																						ENST00000371375.1																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(208-210)ttC>ttT		phospholipase C, epsilon 1							159	143	148					10																	95849061		1568	3582	5150	SO:0001627	intron_variant	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95849061C>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.1207-42870C>T	10.37:g.95849061C>T						PLCE1_ENST00000371380.2_Intron|PLCE1_ENST00000260766.3_Intron|RP11-429H9.4_ENST00000438899.1_RNA|PLCE1_ENST00000371385.3_Silent_p.F70F	p.F70F			Q9P212	PLCE1_HUMAN			1	210	+		Colorectal(252;0.0458)	0					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	ENST00000371380.3	37	c.210C>T	CCDS41552.1																																																																																				0.512	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		59	106	0	0	0	0.048971	0	59	106					T	95849061	C	T	95849061	1	4	302	0	1	0	0	0	0	0	0	0	12034	854	30	2		2	PLCE1	10	95849061	Intron	SNP	C	TCGA-EM-A2OV-01A-11D-A202-08	25437449	95849061	39685686	16	6431											
SORBS1	10580	broad.mit.edu	37	chr10	97154771	97154771	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggtaccttcggaagtttgCtggatttcaggaagttcagg	13	6	2	0			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr10:97154771C>T	ENST00000361941.3	-	12	1310	c.1284G>A	c.(1282-1284)caG>caA	p.Q428Q	SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000474353.2_Intron|SORBS1_ENST00000347291.4_Silent_p.Q296Q|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371227.4_Intron|SORBS1_ENST00000371247.2_Silent_p.Q428Q|SORBS1_ENST00000393949.1_Silent_p.Q419Q|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000354106.3_Silent_p.Q419Q|SORBS1_ENST00000371246.2_Silent_p.Q428Q|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000277982.5_Silent_p.Q428Q	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CGGAAGTTTGCTGGATTTCAG	0.403																																						ENST00000371247.2																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1282-1284)caG>caA		sorbin and SH3 domain containing 1							248	296	280					10																	97154771		2203	4300	6503	SO:0001819	synonymous_variant	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97154771C>T	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"c-Cbl-associated protein"	605264	"SH3-domain protein 5 (ponsin)"	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.1284G>A	10.37:g.97154771C>T						SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000347291.4_Silent_p.Q296Q|SORBS1_ENST00000371227.4_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371246.2_Silent_p.Q428Q|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000354106.3_Silent_p.Q419Q|SORBS1_ENST00000277982.5_Silent_p.Q428Q|SORBS1_ENST00000361941.3_Silent_p.Q428Q|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000474353.2_Intron|SORBS1_ENST00000393949.1_Silent_p.Q419Q	p.Q428Q			Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	14	1473	-		Colorectal(252;0.0429)	428			SoHo.			Silent	SNP	ENST00000361941.3	37	c.1284G>A	CCDS31255.1																																																																																				0.403	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			4	257	0	0	0	0.014758	0	4	257					T	97154771	C	T	97154771	2	4	302	1	0	0	0	0	0	0	0	1	14927	796	28	2		2	SORBS1	10	97154771	Silent	SNP	C	TCGA-EM-A2OV-01A-11D-A202-08	1305710	97154771	38379976	17	6432											
ARID2	196528	broad.mit.edu	37	chr12	46244083	46244084	+	Frame_Shift_Ins	INS	-	-	A													cagaattccataccccagacINSaggagttcctgttagtattg							TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr12:46244083_46244084insA	ENST00000334344.6	+	15	2349_2350	c.2177_2178insA	c.(2176-2181)acaggafs	p.G727fs	ARID2_ENST00000444670.1_Frame_Shift_Ins_p.G337fs|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Frame_Shift_Ins_p.G578fs|ARID2_ENST00000457135.1_5'Flank	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	727					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ATACCCCAGACAGGAGTTCCTG	0.441			"N, S, F"		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"N, S, F"	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(2176-2178)aggfs		AT rich interactive domain 2 (ARID, RFX-like)																																				SO:0001589	frameshift_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46244083_46244084insA		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.2178dupA	12.37:g.46244084_46244084dupA	ENSP00000335044:p.Gly727fs					ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Frame_Shift_Ins_p.R336fs|ARID2_ENST00000422737.1_Frame_Shift_Ins_p.R577fs	p.R726fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	2349_2350	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	726					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Frame_Shift_Ins	INS	ENST00000334344.6	37	c.2177_2178insA	CCDS31783.1																																																																																				0.441	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		45	105						45	105	---	---	---	---	A	46244084	-	A	46244083	7	5	302	1	0	1	1	0	0	0	0	0	915	478	17	0	2235	0	ARID2	12	46244083	Frame_Shift_Ins	INS	-	TCGA-EM-A2OV-01A-11D-A202-08		46244083	87607812	18	6433											
ATP2A2	488	broad.mit.edu	37	chr12	110765417	110765417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagcaactggagttaacacCgaaattggcaagatccggga	12	8	0	1	rs143310856		TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr12:110765417C>T	ENST00000539276.2	+	8	799	c.690C>T	c.(688-690)acC>acT	p.T230T	ATP2A2_ENST00000395494.2_Silent_p.T203T|ATP2A2_ENST00000308664.6_Silent_p.T230T			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	230					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GAGTTAACACCGAAATTGGCA	0.463													C|||	1	0.000199681	8e-04	0	5008	,	,		20817	0		0	False		,,,				2504	0					ENST00000395494.2																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						c.(607-609)acC>acT		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2							192	189	190					12																	110765417		2203	4300	6503	SO:0001819	synonymous_variant	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110765417C>T		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"ATPases / P-type"	812	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 2", "calcium pump 2"	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.690C>T	12.37:g.110765417C>T						ATP2A2_ENST00000539276.2_Silent_p.T230T|ATP2A2_ENST00000308664.6_Silent_p.T230T	p.T203T			P16615	AT2A2_HUMAN			7	1172	+			230					A6NDN7|B4DF05|P16614|Q86VJ2	Silent	SNP	ENST00000539276.2	37	c.609C>T	CCDS9144.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	9.178	1.022761	0.19433	.	.	ENSG00000174437	ENST00000548169	.	.	.	5.38	-7.11	0.01542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3355	0.00325	0.3721:0.1715:0.1807:0.2757	.	.	.	.	X	121	.	.	R	+	1	2	ATP2A2	109249800	0.216000	0.23585	0.883000	0.34634	0.994000	0.84299	-0.625000	0.05534	-1.462000	0.01907	-0.397000	0.06425	CGA		0.463	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		7	251	0	0	0	0.02938	0	7	251					T	110765417	C	T	110765417	2	4	302	1	0	0	0	0	0	0	0	1	1137	639	23	1		1	ATP2A2	12	110765417	Silent	SNP	C	TCGA-EM-A2OV-01A-11D-A202-08	64521334	110765417	23086478	19	6434											
FRY	10129	broad.mit.edu	37	chr13	32835817	32835817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggacagcctggataagtGtgatatgcagattctggagg	14	6	2	2			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr13:32835817G>A	ENST00000380250.3	+	52	7977	c.7481G>A	c.(7480-7482)tGt>tAt	p.C2494Y	FRY_ENST00000542859.1_5'Flank	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2494						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CTGGATAAGTGTGATATGCAG	0.498																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(7480-7482)tGt>tAt		furry homolog (Drosophila)							80	84	83					13																	32835817		2013	4178	6191	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32835817G>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.7481G>A	13.37:g.32835817G>A	ENSP00000369600:p.Cys2494Tyr						p.C2494Y	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	52	7977	+		Lung SC(185;0.0271)	2494					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.7481G>A	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.690930	0.68271	.	.	ENSG00000073910	ENST00000380250;ENST00000380235	T	0.21734	1.99	5.68	5.68	0.88126	.	0.085025	0.85682	D	0.000000	T	0.23133	0.0559	N	0.22421	0.69	0.80722	D	1	D;P	0.57571	0.98;0.944	P;P	0.47299	0.543;0.492	T	0.01062	-1.1464	10	0.59425	D	0.04	.	19.7964	0.96487	0.0:0.0:1.0:0.0	.	275;2494	Q8NB82;Q5TBA9	.;FRY_HUMAN	Y	2494;138	ENSP00000369600:C2494Y	ENSP00000369567:C138Y	C	+	2	0	FRY	31733817	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.659000	0.68010	2.702000	0.92279	0.655000	0.94253	TGT		0.498	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		28	40	0	0	0	0.034045	0	28	40					A	32835817	G	A	32835817	3	1	302	1	0	0	0	0	1	0	0	0	6063	1377	48	2	7687	2	FRY	13	32835817	Missense_Mutation	SNP	G	TCGA-EM-A2OV-01A-11D-A202-08		32835817	82334061	20	6435											
ABCA3	21	broad.mit.edu	37	chr16	2331127	2331127	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaaagtcgtggtcttcccGgctccattgaagcccagcag	11	12	1	2	rs373102317		TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr16:2331127G>A	ENST00000301732.5	-	28	4960	c.4260C>T	c.(4258-4260)gcC>gcT	p.A1420A	ABCA3_ENST00000382381.3_Silent_p.A1362A	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1420	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	TGGTCTTCCCGGCTCCATTGA	0.617													G|||	1	0.000199681	0	0.0014	5008	,	,		17725	0		0	False		,,,				2504	0					ENST00000301732.5																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(4258-4260)gcC>gcT		ATP-binding cassette, sub-family A (ABC1), member 3		G		0,4396		0,0,2198	103	95	98		4260	-11.5	0.1	16		98	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ABCA3	NM_001089.2		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		1420/1705	2331127	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2331127G>A	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.4260C>T	16.37:g.2331127G>A						ABCA3_ENST00000382381.3_Silent_p.A1362A	p.A1420A	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			28	4960	-		Ovarian(90;0.17)	1420			ABC transporter 2.		B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	c.4260C>T	CCDS10466.1																																																																																				0.617	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		4	100	0	0	0	0.014758	0	4	100					A	2331127	G	A	2331127	2	1	302	1	0	0	0	0	0	0	0	1	33	1103	39	1		1	ABCA3	16	2331127	Silent	SNP	G	TCGA-EM-A2OV-01A-11D-A202-08		2331127	88023626	21	6436											
GLP2R	9340	broad.mit.edu	37	chr17	9763385	9763385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacagtgcttcctgagaggCggctgtggcccagatacctg	13	13	0	2			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr17:9763385C>T	ENST00000262441.5	+	7	1405	c.892C>T	c.(892-894)Cgg>Tgg	p.R298W	GLP2R_ENST00000574745.1_Missense_Mutation_p.R118W	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	298					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	TCCTGAGAGGCGGCTGTGGCC	0.542																																						ENST00000262441.5																			0				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44						c.(892-894)Cgg>Tgg		glucagon-like peptide 2 receptor	Glucagon recombinant(DB00040)						56	55	55					17																	9763385		2203	4300	6503	SO:0001583	missense	9340				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		g.chr17:9763385C>T	AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"GPCR / Class B : Glucagon receptors"	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.892C>T	17.37:g.9763385C>T	ENSP00000262441:p.Arg298Trp					GLP2R_ENST00000574745.1_Missense_Mutation_p.R118W	p.R298W	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN			7	1405	+			298					Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	37	c.892C>T	CCDS11150.1	.	.	.	.	.	.	.	.	.	.	C	6.891	0.533848	0.13188	.	.	ENSG00000065325	ENST00000396206;ENST00000304773;ENST00000262441	T	0.42900	0.96	5.34	0.67	0.17923	GPCR, family 2-like (1);	0.238863	0.21970	N	0.066475	T	0.43144	0.1234	M	0.86651	2.83	0.09310	N	1	P	0.46859	0.885	B	0.43809	0.432	T	0.44667	-0.9313	10	0.56958	D	0.05	.	1.6514	0.02773	0.1389:0.4599:0.135:0.2663	.	298	O95838	GLP2R_HUMAN	W	298;273;298	ENSP00000262441:R298W	ENSP00000262441:R298W	R	+	1	2	GLP2R	9704110	0.001000	0.12720	0.787000	0.31911	0.322000	0.28314	-0.354000	0.07681	-0.026000	0.13895	-0.136000	0.14681	CGG		0.542	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			10	23	0	0	0	0.069234	0	10	23					T	9763385	C	T	9763385	3	4	302	1	0	0	0	0	1	0	0	0	6453	759	27	1	918	1	GLP2R	17	9763385	Missense_Mutation	SNP	C	TCGA-EM-A2OV-01A-11D-A202-08		9763385	71431825	22	6437											
EZH1	2145	broad.mit.edu	37	chr17	40857116	40857116	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tagcactcacctcaccacagTattcagaaatgaattcgttc	5	12	3	2			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr17:40857116T>A	ENST00000428826.2	-	17	2046	c.1925A>T	c.(1924-1926)tAc>tTc	p.Y642F	EZH1_ENST00000590783.1_5'UTR|EZH1_ENST00000592743.1_Missense_Mutation_p.Y642F|EZH1_ENST00000415827.2_Missense_Mutation_p.Y633F|EZH1_ENST00000435174.1_Missense_Mutation_p.Y503F|EZH1_ENST00000585893.1_Missense_Mutation_p.Y602F|EZH1_ENST00000590078.1_Missense_Mutation_p.Y572F			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	642	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		CTCACCACAGTATTCAGAAAT	0.507																																						ENST00000428826.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27						c.(1924-1926)tAc>tTc		enhancer of zeste homolog 1 (Drosophila)							89	85	86					17																	40857116		2203	4300	6503	SO:0001583	missense	2145				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding	g.chr17:40857116T>A		CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"Chromatin-modifying enzymes / K-methyltransferases"	3526	protein-coding gene	gene with protein product		601674	"enhancer of zeste (Drosophila) homolog 1", "enhancer of zeste homolog 1 (Drosophila)"			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.1925A>T	17.37:g.40857116T>A	ENSP00000404658:p.Tyr642Phe					EZH1_ENST00000435174.1_Missense_Mutation_p.Y503F|EZH1_ENST00000585893.1_Missense_Mutation_p.Y602F|EZH1_ENST00000590783.1_5'UTR|EZH1_ENST00000592743.1_Missense_Mutation_p.Y642F|EZH1_ENST00000590078.1_Missense_Mutation_p.Y572F|EZH1_ENST00000415827.2_Missense_Mutation_p.Y633F	p.Y642F			Q92800	EZH1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0784)	17	2046	-		Breast(137;0.00104)	642			SET.		A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	ENST00000428826.2	37	c.1925A>T	CCDS32659.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.938478	0.92526	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	D;D	0.84800	-1.9;-1.9	5.41	5.41	0.78517	SET domain (3);	0.114193	0.64402	D	0.000007	D	0.94122	0.8115	M	0.93898	3.47	0.80722	D	1	D;D;D;D;D	0.71674	0.997;0.998;0.998;0.998;0.998	D;D;D;D;D	0.75020	0.959;0.974;0.974;0.974;0.985	D	0.95511	0.8586	10	0.87932	D	0	.	15.5994	0.76613	0.0:0.0:0.0:1.0	.	503;602;648;572;642	Q92800-5;Q92800-3;Q92800-2;Q92800-4;Q92800	.;.;.;.;EZH1_HUMAN	F	645;642;602;503	ENSP00000404658:Y642F;ENSP00000404071:Y503F	ENSP00000264646:Y645F	Y	-	2	0	EZH1	38110642	1.000000	0.71417	0.975000	0.42487	0.987000	0.75469	7.864000	0.87037	2.261000	0.74972	0.460000	0.39030	TAC		0.507	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991		26	64	0	0	0	0.083992	0	26	64					A	40857116	T	A	40857116	3	1	302	1	0	0	0	0	1	0	0	0	5333	1638	57	5	338	5	EZH1	17	40857116	Missense_Mutation	SNP	T	TCGA-EM-A2OV-01A-11D-A202-08	31093731	40857116	40338094	23	6438											
THOC1	9984	broad.mit.edu	37	chr18	265318	265318	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttacaatttcttcttctagAatacctctgaaagcttggtc	5	10	4	2			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr18:265318A>C	ENST00000261600.6	-	3	181	c.174T>G	c.(172-174)atT>atG	p.I58M	THOC1_ENST00000582313.1_5'UTR|RP11-705O1.8_ENST00000581677.1_lincRNA	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	58					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				CTTCTTCTAGAATACCTCTGA	0.269																																						ENST00000261600.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20						c.(172-174)atT>atG		THO complex 1							43	41	42					18																	265318		1790	4061	5851	SO:0001583	missense	9984				apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding	g.chr18:265318A>C	AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"THO complex subunits"	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.174T>G	18.37:g.265318A>C	ENSP00000261600:p.Ile58Met					THOC1_ENST00000582313.1_5'UTR	p.I58M	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN			3	181	-		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	58					B2RBP6|Q15219|Q64I72|Q64I73	Missense_Mutation	SNP	ENST00000261600.6	37	c.174T>G	CCDS45820.1	.	.	.	.	.	.	.	.	.	.	A	7.914	0.737225	0.15574	.	.	ENSG00000079134	ENST00000261600	.	.	.	5.93	0.82	0.18793	.	0.187185	0.45867	D	0.000327	T	0.16599	0.0399	N	0.08118	0	0.21147	N	0.999774	B;B	0.23806	0.091;0.022	B;B	0.28232	0.087;0.027	T	0.15150	-1.0447	9	0.40728	T	0.16	-6.9234	5.4798	0.16717	0.6211:0.0:0.2629:0.116	.	58;58	Q96FV9-2;Q96FV9	.;THOC1_HUMAN	M	58	.	ENSP00000261600:I58M	I	-	3	3	THOC1	255318	1.000000	0.71417	0.997000	0.53966	0.931000	0.56810	3.131000	0.50515	-0.079000	0.12707	-1.617000	0.00794	ATT		0.269	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5	NM_005131		7	14	0	0	0	0.038147	0	7	14					C	265318	A	C	265318	3	2	302	1	0	0	0	0	1	0	0	0	15861	242	9	5	1875	5	THOC1	18	265318	Missense_Mutation	SNP	A	TCGA-EM-A2OV-01A-11D-A202-08		265318	77811930	24	6439											
ZNF234	10780	broad.mit.edu	37	chr19	44661248	44661248	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattcagccttcacaatttcAggcccatcggagaatccaca	6	13	3	1			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr19:44661248A>G	ENST00000426739.2	+	6	1337	c.1079A>G	c.(1078-1080)cAg>cGg	p.Q360R	ZNF234_ENST00000592437.1_Missense_Mutation_p.Q360R	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	360					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q360R(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				TCACAATTTCAGGCCCATCGG	0.443																																						ENST00000426739.2																			1	Substitution - Missense(1)	p.Q360R(1)	lung(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23						c.(1078-1080)cAg>cGg		zinc finger protein 234							58	62	61					19																	44661248		2136	4273	6409	SO:0001583	missense	10780				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44661248A>G	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"Zinc fingers, C2H2-type", "-"	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.1079A>G	19.37:g.44661248A>G	ENSP00000400878:p.Gln360Arg					ZNF234_ENST00000592437.1_Missense_Mutation_p.Q360R	p.Q360R	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN			6	1337	+		Prostate(69;0.0435)	360					A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	37	c.1079A>G	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	A	4.181	0.032106	0.08101	.	.	ENSG00000167380	ENST00000426739	T	0.11930	2.73	4.12	-0.786	0.10946	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04407	0.0121	N	0.04148	-0.265	0.09310	N	1	B	0.15141	0.012	B	0.14578	0.011	T	0.41305	-0.9516	9	0.25751	T	0.34	.	0.0834	0.00033	0.2898:0.2494:0.1907:0.2701	.	360	Q14588	ZN234_HUMAN	R	360	ENSP00000400878:Q360R	ENSP00000400878:Q360R	Q	+	2	0	ZNF226	49353088	0.000000	0.05858	0.001000	0.08648	0.750000	0.42670	-3.103000	0.00603	-0.033000	0.13736	0.482000	0.46254	CAG		0.443	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			3	39	0	0	0	0.009096	0	3	39					G	44661248	A	G	44661248	3	3	302	1	0	0	0	0	1	0	0	0	17784	188	7	3	1093	3	ZNF234	19	44661248	Missense_Mutation	SNP	A	TCGA-EM-A2OV-01A-11D-A202-08		44661248	14467735	25	6440											
TM9SF4	9777	broad.mit.edu	37	chr20	30745657	30745657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgggatctccctgcccctcGtctacttgggctactacttc	8	16	2	0			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr20:30745657G>A	ENST00000398022.2	+	14	1625	c.1390G>A	c.(1390-1392)Gtc>Atc	p.V464I	TM9SF4_ENST00000217315.5_Missense_Mutation_p.V447I	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	464						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCTGCCCCTCGTCTACTTGGG	0.602																																						ENST00000217315.5																			0				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1339-1341)Gtc>Atc		transmembrane 9 superfamily protein member 4							175	162	166					20																	30745657		2203	4300	6503	SO:0001583	missense	9777					integral to membrane		g.chr20:30745657G>A	BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.1390G>A	20.37:g.30745657G>A	ENSP00000381104:p.Val464Ile					TM9SF4_ENST00000398022.2_Missense_Mutation_p.V464I	p.V447I			Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		14	1679	+			464					B0QYT7|Q9NUA3	Missense_Mutation	SNP	ENST00000398022.2	37	c.1339G>A	CCDS13196.2	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844123	0.91197	.	.	ENSG00000101337	ENST00000398022;ENST00000217315	T;T	0.44881	0.91;0.91	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.51210	0.1661	L	0.52905	1.665	0.80722	D	1	P;P	0.51933	0.949;0.887	P;P	0.50791	0.65;0.591	T	0.51100	-0.8748	10	0.46703	T	0.11	-31.5818	18.4218	0.90594	0.0:0.0:1.0:0.0	.	371;464	B4DH88;Q92544	.;TM9S4_HUMAN	I	464;447	ENSP00000381104:V464I;ENSP00000217315:V447I	ENSP00000217315:V447I	V	+	1	0	TM9SF4	30209318	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	5.441000	0.66569	2.572000	0.86782	0.655000	0.94253	GTC		0.602	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		67	132	0	0	0	0.048971	0	67	132					A	30745657	G	A	30745657	3	1	302	1	0	0	0	0	1	0	0	0	15977	1145	40	1	1444	1	TM9SF4	20	30745657	Missense_Mutation	SNP	G	TCGA-EM-A2OV-01A-11D-A202-08		30745657	32279863	26	6441											
PARD6B	84612	broad.mit.edu	37	chr20	49366339	49366339	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actttagacctgtgtcttctAttatagacgtggatattctc	7	8	3	2	rs538014525		TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr20:49366339A>T	ENST00000371610.2	+	3	676	c.433A>T	c.(433-435)Att>Ttt	p.I145F	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	145	Interaction with PARD3 and CDC42. {ECO:0000250}.|Pseudo-CRIB.				axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction assembly (GO:0007043)|cell-cell junction organization (GO:0045216)|establishment or maintenance of cell polarity (GO:0007163)|protein complex assembly (GO:0006461)|regulation of cell migration (GO:0030334)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						TGTGTCTTCTATTATAGACGT	0.438																																						ENST00000371610.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						c.(433-435)Att>Ttt		par-6 family cell polarity regulator beta							71	70	70					20																	49366339		2203	4300	6503	SO:0001583	missense	84612				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding	g.chr20:49366339A>T	AB044555	CCDS33485.1	20q13.13	2013-08-28	2013-08-28		ENSG00000124171	ENSG00000124171			16245	protein-coding gene	gene with protein product		608975	"par-6 (partitioning defective 6, C.elegans) homolog beta", "par-6 partitioning defective 6 homolog beta (C. elegans)"			11260256	Standard	NM_032521		Approved	PAR-6B	uc002xvo.3	Q9BYG5	OTTHUMG00000032732	ENST00000371610.2:c.433A>T	20.37:g.49366339A>T	ENSP00000360672:p.Ile145Phe					PARD6B_ENST00000396039.1_Intron	p.I145F	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN			3	676	+			145			Interaction with PARD3 and CDC42 (By similarity).|Pseudo-CRIB.		A2A2A7|Q9Y510	Missense_Mutation	SNP	ENST00000371610.2	37	c.433A>T	CCDS33485.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.908985	0.92107	.	.	ENSG00000124171	ENST00000371610	T	0.42900	0.96	6.02	6.02	0.97574	PDZ/DHR/GLGF (1);	0.045268	0.85682	D	0.000000	T	0.68924	0.3054	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.72855	-0.4166	10	0.54805	T	0.06	-31.7888	16.5446	0.84426	1.0:0.0:0.0:0.0	.	145	Q9BYG5	PAR6B_HUMAN	F	145	ENSP00000360672:I145F	ENSP00000360672:I145F	I	+	1	0	PARD6B	48799746	1.000000	0.71417	0.631000	0.29282	0.886000	0.51366	8.875000	0.92372	2.311000	0.77944	0.533000	0.62120	ATT		0.438	PARD6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079697.2	NM_032521		27	46	0	0	0	0.099896	0	27	46					T	49366339	A	T	49366339	3	4	302	1	0	0	0	0	1	0	0	0	11446	449	16	5	443	5	PARD6B	20	49366339	Missense_Mutation	SNP	A	TCGA-EM-A2OV-01A-11D-A202-08	18620682	49366339	13659181	27	6442											
MXRA5	25878	broad.mit.edu	37	chrX	3241422	3241422	+	Frame_Shift_Del	DEL	T	T	-													tttgccatgtttatccttcgTctagattcaaacactctgcg							TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chrX:3241422delT	ENST00000217939.6	-	5	2458	c.2304delA	c.(2302-2304)agafs	p.R770fs		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	770						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTATCCTTCGTCTAGATTCAA	0.448																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(2302-2304)agfs		matrix-remodelling associated 5							122	108	112					X																	3241422		2203	4300	6503	SO:0001589	frameshift_variant	25878					extracellular region		g.chrX:3241422delT	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2304delA	X.37:g.3241422delT	ENSP00000217939:p.Arg770fs						p.R770fs	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	2458	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	770					Q6P1M7|Q9Y3Y8	Frame_Shift_Del	DEL	ENST00000217939.6	37	c.2304delA	CCDS14124.1																																																																																				0.448	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		8	145						8	145	---	---	---	---	-	3241422	T	-	3241422	7	5	302	1	0	1	0	1	0	0	0	0	10003	1664	58	0	6194	0	MXRA5	23	3241422	Frame_Shift_Del	DEL	T	TCGA-EM-A2OV-01A-11D-A202-08		3241422	152029138	28	6443											
CXorf61	203413	broad.mit.edu	37	chrX	115592946	115592946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgatgcacctctgaaacCcttgctaagtagagtatgtt	10	8	1	3			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chrX:115592946C>T	ENST00000371894.4	-	2	450	c.304G>A	c.(304-306)Ggt>Agt	p.G102S		NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN		102						integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(3)|lung(8)	12						CCTCTGAAACCCTTGCTAAGT	0.423																																						ENST00000371894.4																			0				breast(1)|large_intestine(3)|lung(8)	12						c.(304-306)Ggt>Agt		chromosome X open reading frame 61							177	148	158					X																	115592946		2203	4300	6503	SO:0001583	missense	203413					integral to membrane|plasma membrane		g.chrX:115592946C>T																												ENST00000371894.4:c.304G>A	X.37:g.115592946C>T	ENSP00000360961:p.Gly102Ser						p.G102S	NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN			2	450	-			102						Missense_Mutation	SNP	ENST00000371894.4	37	c.304G>A	CCDS35372.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.950881	0.53186	.	.	ENSG00000204019	ENST00000371894	.	.	.	5.2	2.41	0.29592	.	1.038250	0.07679	N	0.936756	T	0.28001	0.0690	L	0.27053	0.805	0.09310	N	1	P	0.41102	0.738	B	0.42593	0.392	T	0.19549	-1.0302	9	0.51188	T	0.08	0.1608	4.7947	0.13267	0.0:0.6226:0.1752:0.2022	.	102	Q5H943	KKLC1_HUMAN	S	102	.	ENSP00000360961:G102S	G	-	1	0	CXorf61	115506974	0.000000	0.05858	0.002000	0.10522	0.020000	0.10135	0.044000	0.13992	0.572000	0.29383	0.534000	0.68092	GGT		0.423	CXorf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057985.1			4	190	0	0	0	0.009096	0	4	190					T	115592946	C	T	115592946	3	4	302	1	0	0	0	0	1	0	0	0	4116	623	22	2	41	2	CXorf61	23	115592946	Missense_Mutation	SNP	C	TCGA-EM-A2OV-01A-11D-A202-08	112351524	115592946	39677614	29	6444											
CD40LG	959	broad.mit.edu	37	chrX	135741330	135741330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcaccttctgttccaatcGggaagcttcgagtcaagctc	9	12	3	0	rs11575982	byFrequency	TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chrX:135741330G>A	ENST00000370629.2	+	5	598	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	CD40LG_ENST00000370628.2_Missense_Mutation_p.R160Q	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	181					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|immunoglobulin secretion (GO:0048305)|inflammatory response (GO:0006954)|isotype switching (GO:0045190)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of interleukin-12 production (GO:0032735)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CD40 receptor binding (GO:0005174)	p.R181L(2)		endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)					TGTTCCAATCGGGAAGCTTCG	0.463									Immune Deficiency with Hyper-IgM				G|||	22	0.00582781	0	0	3775	,	,		14855	0.002		0	False		,,,				2504	0.0204					ENST00000370629.2																			2	Substitution - Missense(2)	p.R181L(2)	lung(2)	endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26						c.(541-543)cGg>cAg		CD40 ligand	Atorvastatin(DB01076)						223	225	224					X																	135741330		2203	4300	6503	SO:0001583	missense	959	Immune Deficiency with Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding	g.chrX:135741330G>A	X67878	CCDS14659.1	Xq26	2014-09-17	2008-08-01	2005-01-14	ENSG00000102245	ENSG00000102245		"Tumor necrosis factor (ligand) superfamily", "CD molecules", "Endogenous ligands"	11935	protein-coding gene	gene with protein product	"CD40 antigen ligand", "tumor necrosis factor (ligand) superfamily member 5", "T-B cell-activating molecule", "TNF-related activation protein", "hyper-IgM syndrome"	300386	"tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome)"	HIGM1, IMD3, TNFSF5		1427881, 7678782	Standard	NM_000074		Approved	CD40L, TRAP, gp39, hCD40L, CD154	uc004faa.3	P29965	OTTHUMG00000022512	ENST00000370629.2:c.542G>A	X.37:g.135741330G>A	ENSP00000359663:p.Arg181Gln					CD40LG_ENST00000370628.2_Missense_Mutation_p.R160Q	p.R181Q	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN			5	598	+	Acute lymphoblastic leukemia(192;0.000127)		181						Missense_Mutation	SNP	ENST00000370629.2	37	c.542G>A	CCDS14659.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.475335	0.26511	.	.	ENSG00000102245	ENST00000370629;ENST00000370628	D;D	0.94417	-3.42;-3.42	5.56	1.87	0.25490	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.925106	0.09375	N	0.810810	D	0.90655	0.7069	L	0.54323	1.7	0.09310	N	1	B;B	0.25235	0.057;0.121	B;B	0.12156	0.003;0.007	T	0.80388	-0.1403	10	0.45353	T	0.12	-10.9118	4.8672	0.13615	0.5007:0.1578:0.3414:0.0	.	160;181	Q3L8U2;P29965	.;CD40L_HUMAN	Q	181;160	ENSP00000359663:R181Q;ENSP00000359662:R160Q	ENSP00000359662:R160Q	R	+	2	0	CD40LG	135568996	0.000000	0.05858	0.218000	0.23776	0.915000	0.54546	-0.401000	0.07232	0.182000	0.20032	0.600000	0.82982	CGG		0.463	CD40LG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058501.1	NM_000074		166	306	0	0	0	0.048971	0	166	306					A	135741330	G	A	135741330	3	1	302	1	0	0	0	0	1	0	0	0	3016	1116	39	1	560	1	CD40LG	23	135741330	Missense_Mutation	SNP	G	TCGA-EM-A2OV-01A-11D-A202-08	20148384	135741330	19529230	30	6445											
IL23R	149233	broad.mit.edu	37	chr1	67705965	67705965	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagatcattccgaactggGtaggtttttgcagaatttct	9	7	2	2			TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr1:67705965G>A	ENST00000347310.5	+	9	1319		c.e9+1		AL109843.1_ENST00000408806.1_RNA|IL23R_ENST00000473881.1_Intron|IL23R_ENST00000395227.1_Splice_Site|IL23R_ENST00000371002.1_Intron	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor						defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						TCCGAACTGGGTAGGTTTTTG	0.323																																						ENST00000347310.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						c.e9+1		interleukin 23 receptor							149	132	138					1																	67705965		2203	4299	6502	SO:0001630	splice_region_variant	149233				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity	g.chr1:67705965G>A	AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.1148+1G>A	1.37:g.67705965G>A						IL23R_ENST00000473881.1_Intron|IL23R_ENST00000395227.1_Splice_Site|IL23R_ENST00000371002.1_Intron		NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN			9	1319	+								C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Splice_Site	SNP	ENST00000347310.5	37		CCDS637.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.202836	0.58234	.	.	ENSG00000162594	ENST00000347310;ENST00000431791;ENST00000441823;ENST00000425614;ENST00000395227	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4119	0.67119	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IL23R	67478553	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	4.175000	0.58263	2.865000	0.98341	0.655000	0.94253	.		0.323	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2	NM_144701	Intron	4	38	0	0	0	0.000248	0	4	38					A	67705965	G	A	67705965	5	1	303	1	0	0	0	0	0	0	1	0	7676	1275	44	2	1179	2	IL23R	1	67705965	Splice_Site	SNP	G	TCGA-EM-A2OW-01A-11D-A202-08		67705965	181544656	1	6446											
AMY2A	279	broad.mit.edu	37	chr1	104160681	104160681	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcacaagatctggaaatgaaGatgaatttagaaacatggtg	11	4	1	5			TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr1:104160681G>A	ENST00000414303.2	+	2	338	c.274G>A	c.(274-276)Gat>Aat	p.D92N		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	92					carbohydrate catabolic process (GO:0016052)|carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|calcium ion binding (GO:0005509)|chloride ion binding (GO:0031404)			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Icodextrin(DB00702)|Miglitol(DB00491)	TGGAAATGAAGATGAATTTAG	0.353																																						ENST00000414303.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(274-276)Gat>Aat		amylase, alpha 2A (pancreatic)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)						129	120	123					1																	104160681		2200	4261	6461	SO:0001583	missense	279				carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding	g.chr1:104160681G>A	BC007060	CCDS783.1	1p21.1	2012-10-02	2007-05-03		ENSG00000243480	ENSG00000243480	3.2.1.1		477	protein-coding gene	gene with protein product		104650	"amylase, alpha 2A; pancreatic"	AMY2		3260028	Standard	NM_000699		Approved		uc001dut.3	P04746	OTTHUMG00000011023	ENST00000414303.2:c.274G>A	1.37:g.104160681G>A	ENSP00000397582:p.Asp92Asn						p.D92N	NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	2	338	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	92					B9EJG1|Q9UBH3	Missense_Mutation	SNP	ENST00000414303.2	37	c.274G>A	CCDS783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	4.982|4.982	0.182341|0.182341	0.09495|0.09495	.|.	.|.	ENSG00000243480|ENSG00000243480	ENST00000414303;ENST00000393932|ENST00000423678	D|.	0.98531|.	-4.98|.	3.47|3.47	-1.4|-1.4	0.08968|0.08968	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);|.	0.752361|.	0.13708|.	N|.	0.368325|.	T|T	0.03651|0.03651	0.0104|0.0104	N|N	0.03304|0.03304	-0.355|-0.355	0.09310|0.09310	N|N	0.999997|0.999997	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.06405|.	0.002;0.001|.	T|T	0.41822|0.41822	-0.9487|-0.9487	10|5	0.16896|.	T|.	0.51|.	.|.	5.6551|5.6551	0.17639|0.17639	0.4505:0.2178:0.3317:0.0|0.4505:0.2178:0.3317:0.0	.|.	92;92|.	B9EJG1;P04746|.	.;AMYP_HUMAN|.	N|K	92|90	ENSP00000397582:D92N|.	ENSP00000377509:D92N|.	D|R	+|+	1|2	0|0	AMY2A|AMY2A	103962204|103962204	0.000000|0.000000	0.05858|0.05858	0.961000|0.961000	0.40146|0.40146	0.980000|0.980000	0.70556|0.70556	-0.748000|-0.748000	0.04818|0.04818	-0.414000|-0.414000	0.07495|0.07495	0.455000|0.455000	0.32223|0.32223	GAT|AGA		0.353	AMY2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030315.1	NM_000699		7	181	0	0	0	0.001984	0	7	181					A	104160681	G	A	104160681	3	1	303	1	0	0	0	0	1	0	0	0	594	942	33	2	280	2	AMY2A	1	104160681	Missense_Mutation	SNP	G	TCGA-EM-A2OW-01A-11D-A202-08	36454716	104160681	145089940	2	6447											
PLEK	5341	broad.mit.edu	37	chr2	68608012	68608012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atctaccaggaggtccattcGactgccagaaaccattgact	8	12	1	2	rs144599110		TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr2:68608012G>A	ENST00000234313.7	+	3	535	c.356G>A	c.(355-357)cGa>cAa	p.R119Q		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	119					actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AGGTCCATTCGACTGCCAGAA	0.458																																						ENST00000234313.7																			0				autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24						c.(355-357)cGa>cAa		pleckstrin		G	GLN/ARG	0,4406		0,0,2203	138	130	133		356	5.8	1.0	2	dbSNP_134	133	1,8599	1.2+/-3.3	0,1,4299	no	missense	PLEK	NM_002664.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	119/351	68608012	1,13005	2203	4300	6503	SO:0001583	missense	5341				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	g.chr2:68608012G>A	X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"Pleckstrin homology (PH) domain containing"	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.356G>A	2.37:g.68608012G>A	ENSP00000234313:p.Arg119Gln						p.R119Q	NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)	3	535	+		Ovarian(717;0.0129)	119					B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Missense_Mutation	SNP	ENST00000234313.7	37	c.356G>A	CCDS1887.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799472	0.70567	0.0	1.16E-4	ENSG00000115956	ENST00000234313	T	0.20332	2.08	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.22322	0.0538	L	0.59436	1.845	0.80722	D	1	D;D	0.56287	0.975;0.975	B;B	0.40506	0.331;0.331	T	0.01748	-1.1282	10	0.31617	T	0.26	.	14.2444	0.65978	0.071:0.0:0.929:0.0	.	137;119	Q59GZ2;P08567	.;PLEK_HUMAN	Q	119	ENSP00000234313:R119Q	ENSP00000234313:R119Q	R	+	2	0	PLEK	68461516	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.462000	0.66707	2.750000	0.94351	0.655000	0.94253	CGA		0.458	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1	NM_002664		6	237	0	0	0	0.001984	0	6	237					A	68608012	G	A	68608012	3	1	303	1	0	0	0	0	1	0	0	0	12053	1058	37	1	366	1	PLEK	2	68608012	Missense_Mutation	SNP	G	TCGA-EM-A2OW-01A-11D-A202-08		68608012	174591361	3	6448											
STAT4	6775	broad.mit.edu	37	chr2	191900911	191900911	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtaagcttctctgccagcaTatggagttgatctgagttaa	10	7	2	2			TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr2:191900911T>A	ENST00000392320.2	-	17	1863	c.1549A>T	c.(1549-1551)Atg>Ttg	p.M517L	STAT4_ENST00000470708.1_5'UTR|STAT4_ENST00000358470.4_Missense_Mutation_p.M517L	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	517					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)			TCTGCCAGCATATGGAGTTGA	0.458																																						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.(1549-1551)Atg>Ttg		signal transducer and activator of transcription 4							106	93	98					2																	191900911		2203	4300	6503	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.chr2:191900911T>A		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.1549A>T	2.37:g.191900911T>A	ENSP00000376134:p.Met517Leu					STAT4_ENST00000470708.1_5'UTR|STAT4_ENST00000358470.4_Missense_Mutation_p.M517L	p.M517L	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)		17	1863	-			517					Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	c.1549A>T	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	T	34	5.327029	0.95708	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	D;D	0.86865	-2.18;-2.18	5.83	5.83	0.93111	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.036537	0.85682	D	0.000000	D	0.90079	0.6901	M	0.79805	2.47	0.80722	D	1	P;P;P	0.46020	0.871;0.871;0.871	B;B;P	0.46275	0.423;0.423;0.51	D	0.91386	0.5131	10	0.72032	D	0.01	-23.62	16.2005	0.82071	0.0:0.0:0.0:1.0	.	426;517;517	Q53S87;B4DV04;Q14765	.;.;STAT4_HUMAN	L	517	ENSP00000351255:M517L;ENSP00000376134:M517L	ENSP00000351255:M517L	M	-	1	0	STAT4	191609156	1.000000	0.71417	0.978000	0.43139	0.984000	0.73092	8.040000	0.89188	2.227000	0.72691	0.528000	0.53228	ATG		0.458	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		6	81	0	0	0	0.00308	0	6	81					A	191900911	T	A	191900911	3	1	303	1	0	0	0	0	1	0	0	0	15266	1406	49	5	729	5	STAT4	2	191900911	Missense_Mutation	SNP	T	TCGA-EM-A2OW-01A-11D-A202-08	123292899	191900911	51298462	4	6449											
CXXC4	80319	broad.mit.edu	37	chr4	105412390	105412390	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaattagtatttgccatttgCaacgacggctctggcgggca	11	9	1	0			TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr4:105412390C>T	ENST00000426831.1	-	1	77	c.63G>A	c.(61-63)ttG>ttA	p.L21L	CXXC4_ENST00000466963.1_Intron|CXXC4_ENST00000394767.2_Silent_p.L190L|AC004053.1_ENST00000500179.1_RNA|AC093628.1_ENST00000606234.1_RNA			Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	21					negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)	DNA binding (GO:0003677)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		TTGCCATTTGCAACGACGGCT	0.617																																						ENST00000394767.2																			0				kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(568-570)ttG>ttA		CXXC finger protein 4							106	119	115					4																	105412390		2203	4300	6503	SO:0001819	synonymous_variant	80319				negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding	g.chr4:105412390C>T		CCDS3665.1, CCDS3665.2	4q22-q24	2014-02-18	2011-12-01		ENSG00000168772	ENSG00000168772			24593	protein-coding gene	gene with protein product	"Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex)"	611645				11113207	Standard	NM_025212		Approved	IDAX	uc003hxf.2	Q9H2H0	OTTHUMG00000131121	ENST00000426831.1:c.63G>A	4.37:g.105412390C>T						CXXC4_ENST00000426831.1_Silent_p.L21L|AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000466963.1_Intron	p.L190L	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)	2	1020	-			21						Silent	SNP	ENST00000426831.1	37	c.570G>A																																																																																					0.617	CXXC4-201	KNOWN	basic	protein_coding	protein_coding		NM_025212		16	306	0	0	0	0.00499	0	16	306					T	105412390	C	T	105412390	2	4	303	1	0	0	0	0	0	0	0	1	4098	709	25	2		2	CXXC4	4	105412390	Silent	SNP	C	TCGA-EM-A2OW-01A-11D-A202-08		105412390	85741886	5	6450											
PEX1	5189	broad.mit.edu	37	chr7	92120650	92120650	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccaaagtagagccggtacAtattgaattttgattcatct	7	7	2	3			TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr7:92120650A>G	ENST00000248633.4	-	21	3469	c.3374T>C	c.(3373-3375)aTg>aCg	p.M1125T	AC007566.10_ENST00000427458.1_RNA|AC007566.10_ENST00000441539.1_RNA|PEX1_ENST00000428214.1_Missense_Mutation_p.M1068T|PEX1_ENST00000438045.1_Missense_Mutation_p.M803T	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	1125					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			GAGCCGGTACATATTGAATTT	0.408																																						ENST00000248633.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(3373-3375)aTg>aCg		peroxisomal biogenesis factor 1							133	136	135					7																	92120650		2203	4300	6503	SO:0001583	missense	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92120650A>G	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"ATPases / AAA-type"	8850	protein-coding gene	gene with protein product		602136	"peroxisome biogenesis factor 1", "Zellweger syndrome 1", "Zellweger syndrome"	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.3374T>C	7.37:g.92120650A>G	ENSP00000248633:p.Met1125Thr					PEX1_ENST00000438045.1_Missense_Mutation_p.M803T|PEX1_ENST00000428214.1_Missense_Mutation_p.M1068T|AC007566.10_ENST00000427458.1_RNA	p.M1125T	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		21	3469	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	1125					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	c.3374T>C	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	A	16.34	3.094503	0.56075	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214	D;D;D	0.94497	-3.38;-3.44;-3.43	5.4	5.4	0.78164	.	0.233626	0.52532	D	0.000068	D	0.90848	0.7125	L	0.43152	1.355	0.80722	D	1	P;B;B	0.36465	0.554;0.181;0.181	B;B;B	0.30029	0.11;0.075;0.075	D	0.90574	0.4524	10	0.44086	T	0.13	-9.0938	15.7033	0.77558	1.0:0.0:0.0:0.0	.	803;917;1125	E9PE75;B4DER6;O43933	.;.;PEX1_HUMAN	T	803;1125;1068	ENSP00000410438:M803T;ENSP00000248633:M1125T;ENSP00000394413:M1068T	ENSP00000248633:M1125T	M	-	2	0	PEX1	91958586	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.678000	0.91211	2.182000	0.69389	0.402000	0.26972	ATG		0.408	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		3	116	0	0	0	0.000602	0	3	116					G	92120650	A	G	92120650	3	3	303	1	0	0	0	0	1	0	0	0	11735	217	8	3	493	3	PEX1	7	92120650	Missense_Mutation	SNP	A	TCGA-EM-A2OW-01A-11D-A202-08		92120650	67018013	6	6451											
DLC1	10395	broad.mit.edu	37	chr8	12948874	12948874	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catatgggccagcccttgagTggcagctaggttttcattca	11	10	2	1			TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr8:12948874T>A	ENST00000276297.4	-	14	4217	c.3808A>T	c.(3808-3810)Act>Tct	p.T1270S	DLC1_ENST00000520226.1_Missense_Mutation_p.T759S|DLC1_ENST00000358919.2_Missense_Mutation_p.T833S|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000512044.2_Missense_Mutation_p.T867S	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1270	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AGCCCTTGAGTGGCAGCTAGG	0.423																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(3808-3810)Act>Tct		deleted in liver cancer 1							107	114	112					8																	12948874		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12948874T>A	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.3808A>T	8.37:g.12948874T>A	ENSP00000276297:p.Thr1270Ser					DLC1_ENST00000520226.1_Missense_Mutation_p.T759S|DLC1_ENST00000512044.2_Missense_Mutation_p.T867S|DLC1_ENST00000358919.2_Missense_Mutation_p.T833S|DLC1_ENST00000510318.1_5'UTR	p.T1270S	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			14	4217	-			1270			Rho-GAP.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.3808A>T	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.815265	0.90790	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000510318;ENST00000512044;ENST00000520226	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	4.66	4.66	0.58398	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.62159	0.2405	M	0.71581	2.175	0.80722	D	1	B;P;D	0.63046	0.277;0.897;0.992	B;P;D	0.71184	0.327;0.488;0.972	T	0.64812	-0.6319	10	0.51188	T	0.08	.	14.6308	0.68655	0.0:0.0:0.0:1.0	.	1270;867;833	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	S	1270;833;209;867;759	ENSP00000276297:T1270S;ENSP00000351797:T833S;ENSP00000422595:T867S;ENSP00000428028:T759S	ENSP00000276297:T1270S	T	-	1	0	DLC1	12993245	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.131000	0.71670	2.113000	0.64589	0.529000	0.55759	ACT		0.423	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		30	81	0	0	0	0.002096	0	30	81					A	12948874	T	A	12948874	3	1	303	1	0	0	0	0	1	0	0	0	4550	1696	59	5	798	5	DLC1	8	12948874	Missense_Mutation	SNP	T	TCGA-EM-A2OW-01A-11D-A202-08		12948874	133415148	7	6452											
ASTN2	23245	broad.mit.edu	37	chr9	119770423	119770423	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctgtcgtcctttgtccacaGaggtccctcacccatgggga	10	14	2	1			TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr9:119770423G>A	ENST00000313400.4	-	7	1639	c.1539C>T	c.(1537-1539)ctC>ctT	p.L513L	ASTN2_ENST00000373996.3_Silent_p.L513L|ASTN2_ENST00000361209.2_Silent_p.L462L|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	513	EGF-like 1.				negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TTTGTCCACAGAGGTCCCTCA	0.582																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(1537-1539)ctC>ctT		astrotactin 2							97	88	91					9																	119770423		2203	4300	6503	SO:0001819	synonymous_variant	23245					integral to membrane		g.chr9:119770423G>A	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1539C>T	9.37:g.119770423G>A						ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Silent_p.L513L|ASTN2_ENST00000361209.2_Silent_p.L462L	p.L513L			O75129	ASTN2_HUMAN			7	1639	-			513			EGF-like 1.		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	37	c.1539C>T																																																																																					0.582	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		10	77	0	0	0	0.008291	0	10	77					A	119770423	G	A	119770423	2	1	303	1	0	0	0	0	0	0	0	1	1065	929	33	2		2	ASTN2	9	119770423	Silent	SNP	G	TCGA-EM-A2OW-01A-11D-A202-08		119770423	21443008	8	6453											
OR4C11	219429	broad.mit.edu	37	chr11	55371142	55371142	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attatgtgagacgtgcaagcGgagagagcctttttcttccc	11	9	1	2	rs146621611	byFrequency	TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr11:55371142G>A	ENST00000302231.4	-	1	732	c.708C>T	c.(706-708)tcC>tcT	p.S236S		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						ACGTGCAAGCGGAGAGAGCCT	0.413													-|||	19	0.00379393	0.0144	0	5008	,	,		14931	0		0	False		,,,				2504	0					ENST00000302231.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						c.(706-708)tcC>tcT		olfactory receptor, family 4, subfamily C, member 11		-		60,4296		4,52,2122	74	64	67		708	-7.2	0.0	11	dbSNP_134	67	0,8006		0,0,4003	no	coding-synonymous	OR4C11	NM_001004700.2		4,52,6125	AA,AG,GG		0.0,1.3774,0.4854		236/311	55371142	60,12302	2178	4003	6181	SO:0001819	synonymous_variant	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371142G>A	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"GPCR / Class A : Olfactory receptors"	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.708C>T	11.37:g.55371142G>A							p.S236S	NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN			1	732	-			236					B9EIL4|Q8NGL8	Silent	SNP	ENST00000302231.4	37	c.708C>T	CCDS31503.1																																																																																				0.413	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		4	113	0	0	0	0.000248	0	4	113					A	55371142	G	A	55371142	2	1	303	1	0	0	0	0	0	0	0	1	11045	1103	39	1		1	OR4C11	11	55371142	Silent	SNP	G	TCGA-EM-A2OW-01A-11D-A202-08		55371142	79635374	9	6454											
PZP	5858	broad.mit.edu	37	chr12	9355129	9355129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttccctacttacctgtctgtCctggtttatacatgggtttg	8	10	1	0			TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr12:9355129C>T	ENST00000261336.2	-	3	447	c.419G>A	c.(418-420)gGa>gAa	p.G140E	PZP_ENST00000381997.2_5'Flank	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	140					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ACCTGTCTGTCCTGGTTTATA	0.498																																					Melanoma(125;1402 1695 4685 34487 38571)	ENST00000261336.2																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						c.(418-420)gGa>gAa		pregnancy-zone protein							146	141	143					12																	9355129		2203	4300	6503	SO:0001583	missense	5858							g.chr12:9355129C>T	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.419G>A	12.37:g.9355129C>T	ENSP00000261336:p.Gly140Glu						p.G140E	NM_002864.2	NP_002855.2					3	447	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.419G>A	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	C	3.367	-0.129275	0.06753	.	.	ENSG00000126838	ENST00000261336	D	0.81821	-1.54	2.3	0.357	0.16079	Alpha-2-macroglobulin, N-terminal (1);	0.386473	0.20643	N	0.088377	D	0.83308	0.5226	M	0.83223	2.63	0.45076	D	0.99809	P	0.35944	0.529	P	0.46585	0.521	T	0.79401	-0.1819	10	0.66056	D	0.02	.	7.176	0.25744	0.0:0.7217:0.0:0.2783	.	140	P20742	PZP_HUMAN	E	140	ENSP00000261336:G140E	ENSP00000261336:G140E	G	-	2	0	PZP	9246396	0.976000	0.34144	0.737000	0.30932	0.036000	0.12997	0.147000	0.16202	-0.172000	0.10779	-1.842000	0.00583	GGA		0.498	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		7	163	0	0	0	0.001984	0	7	163					T	9355129	C	T	9355129	3	4	303	1	0	0	0	0	1	0	0	0	12869	855	30	2	4165	2	PZP	12	9355129	Missense_Mutation	SNP	C	TCGA-EM-A2OW-01A-11D-A202-08		9355129	124496766	10	6455											
PDZRN4	29951	broad.mit.edu	37	chr12	41966431	41966431	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atacattgactcagactgcaTtggcaacccagatgaggact	9	10	1	4			TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr12:41966431T>C	ENST00000402685.2	+	10	1858	c.1850T>C	c.(1849-1851)aTt>aCt	p.I617T	PDZRN4_ENST00000539469.2_Missense_Mutation_p.I359T|PDZRN4_ENST00000298919.7_Missense_Mutation_p.I357T	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	617							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TCAGACTGCATTGGCAACCCA	0.473																																						ENST00000298919.7																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(1069-1071)aTt>aCt		PDZ domain containing ring finger 4							87	87	87					12																	41966431		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41966431T>C	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"RING-type (C3HC4) zinc fingers"	30552	protein-coding gene	gene with protein product	"similar to semaF cytoplasmic domain associated protein 3"	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.1850T>C	12.37:g.41966431T>C	ENSP00000384197:p.Ile617Thr					PDZRN4_ENST00000539469.2_Missense_Mutation_p.I359T|PDZRN4_ENST00000402685.2_Missense_Mutation_p.I617T	p.I357T			Q6ZMN7	PZRN4_HUMAN			10	1458	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	617					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.1070T>C	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	T	0.331	-0.955891	0.02267	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.71817	-0.6;3.85;3.84	4.08	-6.74	0.01743	.	1.547480	0.04225	N	0.334178	T	0.61837	0.2379	L	0.34521	1.04	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.002	T	0.50874	-0.8776	10	0.51188	T	0.08	2.7839	17.7752	0.88505	0.0:0.1025:0.0:0.8975	.	617;357;359	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	T	617;359;357	ENSP00000384197:I617T;ENSP00000439990:I359T;ENSP00000298919:I357T	ENSP00000298919:I357T	I	+	2	0	PDZRN4	40252698	0.000000	0.05858	0.001000	0.08648	0.539000	0.34962	-0.153000	0.10144	-1.548000	0.01712	-0.248000	0.11899	ATT		0.473	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		20	60	0	0	0	0.001523	0	20	60					C	41966431	T	C	41966431	3	2	303	1	0	0	0	0	1	0	0	0	11710	1493	52	3	1961	3	PDZRN4	12	41966431	Missense_Mutation	SNP	T	TCGA-EM-A2OW-01A-11D-A202-08	32611302	41966431	91885464	11	6456											
FAM155A	728215	broad.mit.edu	37	chr13	108518546	108518546	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccgccgccgtctcccggggaGgggggcagggtgggggacga	22	12	1	0			TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr13:108518546G>C	ENST00000375915.2	-	1	537	c.399C>G	c.(397-399)ccC>ccG	p.P133P		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	133						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CTCCCGGGGAGGGGGGCAGGG	0.721																																						ENST00000375915.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(397-399)ccC>ccG		family with sequence similarity 155, member A							6	9	8					13																	108518546		1508	3409	4917	SO:0001819	synonymous_variant	728215					integral to membrane	binding	g.chr13:108518546G>C	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.399C>G	13.37:g.108518546G>C							p.P133P	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			1	537	-			133					B2RUV1|B7Z334	Silent	SNP	ENST00000375915.2	37	c.399C>G	CCDS32006.1																																																																																				0.721	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		8	20	0	0	0	0.000978	0	8	20					C	108518546	G	C	108518546	2	2	303	1	0	0	0	0	0	0	0	1	5465	987	35	4		4	FAM155A	13	108518546	Silent	SNP	G	TCGA-EM-A2OW-01A-11D-A202-08		108518546	6651332	12	6457											
TSHR	7253	broad.mit.edu	37	chr14	81609760	81609760	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacgtcccccgctttctcaTgtgcaacctggcctttgcgg	10	15	1	0	rs121908864		TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr14:81609760T>C	ENST00000541158.2	+	11	1680	c.1358T>C	c.(1357-1359)aTg>aCg	p.M453T	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.M453T			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	453			M -> T (in HTNA; sporadic; found in toxic thyroid nodules and hyperfunctioning thyroid adenomas). {ECO:0000269|PubMed:11434721, ECO:0000269|PubMed:12213664, ECO:0000269|PubMed:8964822, ECO:0000269|PubMed:9253356}.		adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)	p.M453T(28)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CGCTTTCTCATGTGCAACCTG	0.527			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															ENST00000541158.2			yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism	E		thyroid  adenoma	toxic thyroid adenoma		28	Substitution - Missense(28)	p.M453T(28)	thyroid(28)	breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337	GRCh37	CM981962	TSHR	M	rs121908864	c.(1357-1359)aTg>aCg		thyroid stimulating hormone receptor	Thyrotropin Alfa(DB00024)						734	582	633					14																	81609760		2203	4300	6503	SO:0001583	missense	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81609760T>C	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"GPCR / Class A : Gonadotropin and TSH receptors"	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1358T>C	14.37:g.81609760T>C	ENSP00000441235:p.Met453Thr					RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.M453T	p.M453T			P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	11	1680	+			453		M -> T (in HTNA; sporadic; found in toxic thyroid nodules and hyperfunctioning thyroid adenomas).			A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	37	c.1358T>C	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	T	18.61	3.661392	0.67700	.	.	ENSG00000165409	ENST00000541158;ENST00000412429;ENST00000298171	T;T	0.39406	1.08;1.08	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.76528	0.4000	H	0.96604	3.85	0.80722	A	1	D	0.76494	0.999	D	0.81914	0.995	D	0.85108	0.0961	9	0.87932	D	0	.	16.0365	0.80635	0.0:0.0:0.0:1.0	.	453	F5GYU5	.	T	453;100;453	ENSP00000441235:M453T;ENSP00000298171:M453T	ENSP00000298171:M453T	M	+	2	0	TSHR	80679513	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.040000	0.89188	2.196000	0.70406	0.459000	0.35465	ATG		0.527	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		52	105	0	0	0	0.00361	0	52	105					C	81609760	T	C	81609760	3	2	303	1	0	0	0	0	1	0	0	0	16619	1464	51	3	1533	3	TSHR	14	81609760	Missense_Mutation	SNP	T	TCGA-EM-A2OW-01A-11D-A202-08		81609760	25739780	13	6458											
GGA2	23062	broad.mit.edu	37	chr16	23498084	23498084	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcctgaaggtcctcggggtGgttgctctttagaagccttg	14	9	1	2			TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr16:23498084G>T	ENST00000309859.4	-	7	689	c.607C>A	c.(607-609)Cac>Aac	p.H203N	GGA2_ENST00000567468.1_Missense_Mutation_p.H203N	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	203	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		TCCTCGGGGTGGTTGCTCTTT	0.507																																						ENST00000309859.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21						c.(607-609)Cac>Aac		golgi-associated, gamma adaptin ear containing, ARF binding protein 2							226	216	219					16																	23498084		2197	4300	6497	SO:0001583	missense	23062				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	g.chr16:23498084G>T	AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.607C>A	16.37:g.23498084G>T	ENSP00000311962:p.His203Asn					GGA2_ENST00000567468.1_Missense_Mutation_p.H203N	p.H203N	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN		GBM - Glioblastoma multiforme(48;0.0386)	7	689	-			203			GAT.		D3DWF0|O14564|Q9NYN2|Q9UPS2	Missense_Mutation	SNP	ENST00000309859.4	37	c.607C>A	CCDS10611.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.288193	0.23478	.	.	ENSG00000103365	ENST00000309859	T	0.40225	1.04	6.07	6.07	0.98685	GAT (1);	0.102488	0.64402	D	0.000002	T	0.39172	0.1068	L	0.33624	1.015	0.36566	D	0.872697	D	0.55605	0.972	P	0.53360	0.724	T	0.24225	-1.0166	10	0.02654	T	1	-25.1868	13.0052	0.58701	0.0:0.0:0.8389:0.1611	.	203	Q9UJY4	GGA2_HUMAN	N	203	ENSP00000311962:H203N	ENSP00000311962:H203N	H	-	1	0	GGA2	23405585	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.055000	0.57441	2.890000	0.99128	0.650000	0.86243	CAC		0.507	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1			68	214	1	0	2.40655e-23	0.00361	4.48117e-23	68	214					T	23498084	G	T	23498084	3	4	303	1	0	0	0	0	1	0	0	0	6353	1348	47	4	1278	4	GGA2	16	23498084	Missense_Mutation	SNP	G	TCGA-EM-A2OW-01A-11D-A202-08		23498084	66856669	14	6459											
ADAMTS18	170692	broad.mit.edu	37	chr16	77401462	77401462	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggataattccggccagagccGgggtagccacggtaccgctg	15	12	0	1	rs113746494		TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr16:77401462G>A	ENST00000282849.5	-	4	1072	c.654C>T	c.(652-654)ccC>ccT	p.P218P	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	218					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G216_G219del(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GGCCAGAGCCGGGGTAGCCAC	0.552																																						ENST00000282849.5																			1	Deletion - In frame(1)	p.G216_G219del(1)	ovary(1)	NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(652-654)ccC>ccT		ADAM metallopeptidase with thrombospondin type 1 motif, 18							83	75	78					16																	77401462		2198	4300	6498	SO:0001819	synonymous_variant	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77401462G>A	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.654C>T	16.37:g.77401462G>A						ADAMTS18_ENST00000567121.1_5'UTR	p.P218P	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			4	1072	-			218					Q6P4R5|Q6ZWJ9	Silent	SNP	ENST00000282849.5	37	c.654C>T	CCDS10926.1																																																																																				0.552	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			5	107	0	0	0	0.000602	0	5	107					A	77401462	G	A	77401462	2	1	303	1	0	0	0	0	0	0	0	1	263	1103	39	1		1	ADAMTS18	16	77401462	Silent	SNP	G	TCGA-EM-A2OW-01A-11D-A202-08	53903378	77401462	12953291	15	6460											
ZNF624	57547	broad.mit.edu	37	chr17	16527226	16527227	+	Frame_Shift_Ins	INS	-	-	T													gggtttttctccagtgtggaINStttttttgtgctgactgaga							TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr17:16527226_16527227insT	ENST00000311331.7	-	6	1064_1065	c.973_974insA	c.(973-975)atcfs	p.I325fs		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	325					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TCCAGTGTGGATTTTTTTGTGC	0.351																																					NSCLC(186;1023 2134 13330 38202 39800)	ENST00000311331.7																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26						c.(973-975)ccafs		zinc finger protein 624																																				SO:0001589	frameshift_variant	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16527226_16527227insT	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"Zinc fingers, C2H2-type", "-"	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.974dupA	17.37:g.16527233_16527233dupT	ENSP00000310472:p.Ile325fs						p.P325fs	NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	6	1064_1065	-			325					Q3SY62|Q3SY63|Q6ZN27	Frame_Shift_Ins	INS	ENST00000311331.7	37	c.973_974insA	CCDS11180.1																																																																																				0.351	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3	XM_047617		29	90						29	90	---	---	---	---	T	16527227	-	T	16527226	7	5	303	1	0	1	1	0	0	0	0	0	18045	333	12	0	1627	0	ZNF624	17	16527226	Frame_Shift_Ins	INS	-	TCGA-EM-A2OW-01A-11D-A202-08		16527226	64667984	16	6461											
ZNF254	9534	broad.mit.edu	37	chr19	24310503	24310503	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttactaaccataagagaatTcatactggagagaaacccta	6	9	1	2			TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr19:24310503T>G	ENST00000357002.4	+	4	1816	c.1701T>G	c.(1699-1701)atT>atG	p.I567M	ZNF254_ENST00000342944.6_Missense_Mutation_p.I482M	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	567					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ATAAGAGAATTCATACTGGAG	0.333																																						ENST00000357002.4																			0											c.(1699-1701)atT>atG		zinc finger protein 254							31	34	33					19																	24310503		2190	4284	6474	SO:0001583	missense	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24310503T>G	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"Zinc fingers, C2H2-type", "-"	13047	protein-coding gene	gene with protein product		604768	"zinc finger protein 539"	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1701T>G	19.37:g.24310503T>G	ENSP00000349494:p.Ile567Met					ZNF254_ENST00000342944.6_Missense_Mutation_p.I482M	p.I567M	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN			4	1816	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	567					A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	c.1701T>G	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	T	11.08	1.534829	0.27475	.	.	ENSG00000213096	ENST00000342944;ENST00000357002	T;T	0.01025	5.43;5.43	0.525	0.525	0.17072	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01454	0.0047	N	0.12502	0.225	0.26153	N	0.98012	D	0.76494	0.999	D	0.66847	0.947	T	0.55988	-0.8053	9	0.62326	D	0.03	.	5.2926	0.15735	0.0:1.0E-4:0.0:0.9999	.	567	O75437	ZN254_HUMAN	M	482;567	ENSP00000445527:I482M;ENSP00000349494:I567M	ENSP00000445527:I482M	I	+	3	3	ZNF254	24102343	0.001000	0.12720	0.242000	0.24170	0.930000	0.56654	-0.558000	0.05978	0.446000	0.26666	0.254000	0.18369	ATT		0.333	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		13	33	0	0	0	0.00245	0	13	33					G	24310503	T	G	24310503	3	3	303	1	0	0	0	0	1	0	0	0	17795	1771	62	5	1715	5	ZNF254	19	24310503	Missense_Mutation	SNP	T	TCGA-EM-A2OW-01A-11D-A202-08		24310503	34818480	17	6462											
TOMM40	10452	broad.mit.edu	37	chr19	45397111	45397111	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcattcaccagctgggcccCggtctcaggtccaagatggc	12	14	3	1	rs536598319		TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr19:45397111C>T	ENST00000426677.2	+	4	690	c.510C>T	c.(508-510)ccC>ccT	p.P170P	TOMM40_ENST00000592434.1_Silent_p.P170P|TOMM40_ENST00000252487.5_Silent_p.P170P|CTB-129P6.4_ENST00000585408.1_RNA|TOMM40_ENST00000405636.2_Silent_p.P170P	NM_001128917.1	NP_001122389.1	O96008	TOM40_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)	170					cellular protein metabolic process (GO:0044267)|ion transport (GO:0006811)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane translocase complex (GO:0005742)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein transmembrane transporter activity (GO:0008320)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5	Lung NSC(12;0.0018)|all_lung(12;0.00481)			OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)		AGCTGGGCCCCGGTCTCAGGT	0.647													C|||	1	0.000199681	0	0	5008	,	,		18936	0.001		0	False		,,,				2504	0					ENST00000592434.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5						c.(508-510)ccC>ccT		translocase of outer mitochondrial membrane 40 homolog (yeast)							56	49	51					19																	45397111		2203	4300	6503	SO:0001819	synonymous_variant	10452				protein targeting to mitochondrion	integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex	porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity	g.chr19:45397111C>T	AF043250	CCDS12646.1	19q13	2008-07-04				ENSG00000130204			18001	protein-coding gene	gene with protein product		608061				10980201, 15644312	Standard	NM_006114		Approved	PEREC1, D19S1177E, C19orf1, TOM40, PER-EC1	uc002paa.4	O96008		ENST00000426677.2:c.510C>T	19.37:g.45397111C>T						TOMM40_ENST00000252487.5_Silent_p.P170P|TOMM40_ENST00000426677.2_Silent_p.P170P|TOMM40_ENST00000405636.2_Silent_p.P170P	p.P170P			O96008	TOM40_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)	5	603	+	Lung NSC(12;0.0018)|all_lung(12;0.00481)		170					Q86VW4|Q8WY09|Q8WY10|Q8WY11|Q9BR95	Silent	SNP	ENST00000426677.2	37	c.510C>T	CCDS12646.1																																																																																				0.647	TOMM40-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453241.1			20	42	0	0	0	0.008871	0	20	42					T	45397111	C	T	45397111	2	4	303	1	0	0	0	0	0	0	0	1	16355	639	23	1		1	TOMM40	19	45397111	Silent	SNP	C	TCGA-EM-A2OW-01A-11D-A202-08	21086608	45397111	13731872	18	6463											
C21orf70	85395	broad.mit.edu	37	chr21	46363721	46363721	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggagaggtgaggcaggctcGagtgcacggagcgtcccttc	17	10	0	2	rs200952167		TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr21:46363721G>A	ENST00000291634.6	+	2	300	c.252G>A	c.(250-252)tcG>tcA	p.S84S	FAM207A_ENST00000397826.3_Intron	NM_058190.2	NP_478070.1	Q9NSI2	F207A_HUMAN	family with sequence similarity 207, member A	84																	AGGCAGGCTCGAGTGCACGGA	0.602													G|||	1	0.000199681	0	0.0014	5008	,	,		18989	0		0	False		,,,				2504	0					ENST00000291634.6																			0											c.(250-252)tcG>tcA		family with sequence similarity 207, member A		G		1,4405	2.1+/-5.4	0,1,2202	90	69	76		252	-0.6	0.0	21		76	0,8600		0,0,4300	no	coding-synonymous	FAM207A	NM_058190.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		84/231	46363721	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	85395							g.chr21:46363721G>A		CCDS13718.1	21q22.3	2011-08-15	2011-08-15	2011-08-15	ENSG00000160256	ENSG00000160256			15811	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 70"	C21orf70			Standard	NM_058190		Approved	PRED56	uc002zgl.3	Q9NSI2	OTTHUMG00000090293	ENST00000291634.6:c.252G>A	21.37:g.46363721G>A						FAM207A_ENST00000397826.3_Intron	p.S84S	NM_058190.2	NP_478070.1	Q9NSI2	CU070_HUMAN			2	300	+			84						Silent	SNP	ENST00000291634.6	37	c.252G>A	CCDS13718.1																																																																																				0.602	FAM207A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206639.1	NM_058190		18	53	0	0	0	0.006122	0	18	53					A	46363721	G	A	46363721	2	1	303	1	0	0	0	0	0	0	0	1	2133	1045	37	1		1	C21orf70	21	46363721	Silent	SNP	G	TCGA-EM-A2OW-01A-11D-A202-08		46363721	1766174	19	6464											
IGSF1	3547	broad.mit.edu	37	chrX	130411859	130411859	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caagctccagcggctcactgGgctcagaccacttgaagggg	13	13	2	2			TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chrX:130411859G>C	ENST00000361420.3	-	13	2370	c.2291C>G	c.(2290-2292)cCc>cGc	p.P764R	IGSF1_ENST00000370910.1_Missense_Mutation_p.P755R|IGSF1_ENST00000370904.1_Missense_Mutation_p.P755R|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370903.3_Missense_Mutation_p.P769R			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	764					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CGGCTCACTGGGCTCAGACCA	0.527																																						ENST00000370904.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(2263-2265)cCc>cGc		immunoglobulin superfamily, member 1							109	100	103					X																	130411859		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130411859G>C	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.2291C>G	X.37:g.130411859G>C	ENSP00000355010:p.Pro764Arg					IGSF1_ENST00000370903.3_Missense_Mutation_p.P769R|IGSF1_ENST00000370910.1_Missense_Mutation_p.P755R|IGSF1_ENST00000361420.3_Missense_Mutation_p.P764R	p.P755R			Q8N6C5	IGSF1_HUMAN			19	3174	-			764			Ig-like C2-type 7.		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.2264C>G	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.698398	0.48307	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.12569	2.67;2.67;2.67;2.67	4.88	4.88	0.63580	Immunoglobulin-like fold (1);	0.372467	0.20026	N	0.100814	T	0.28300	0.0699	L	0.39467	1.215	0.38553	D	0.949516	P;D;D	0.89917	0.829;1.0;1.0	P;D;D	0.91635	0.733;0.999;0.999	T	0.03403	-1.1040	10	0.87932	D	0	.	12.9346	0.58307	0.0:0.0:1.0:0.0	.	755;208;764	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	R	755;764;755;769	ENSP00000359947:P755R;ENSP00000355010:P764R;ENSP00000359941:P755R;ENSP00000359940:P769R	ENSP00000355010:P764R	P	-	2	0	IGSF1	130239540	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	1.711000	0.37930	2.354000	0.79902	0.594000	0.82650	CCC		0.527	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			7	112	0	0	0	0.001984	0	7	112					C	130411859	G	C	130411859	3	2	303	1	0	0	0	0	1	0	0	0	7596	1232	43	4	1751	4	IGSF1	23	130411859	Missense_Mutation	SNP	G	TCGA-EM-A2OW-01A-11D-A202-08		130411859	24858701	20	6465											
ABL2	27	broad.mit.edu	37	chr1	179112141	179112141	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgtcctgatctctgccAtaactattaggtggaaggag	12	7	1	1			TCGA-EM-A2OX-01A-11D-A202-08	TCGA-EM-A2OX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474b66e6-0202-43b6-8806-d0470074c286	73556664-4b53-4e6b-94c7-28f1061cf074	g.chr1:179112141A>G	ENST00000502732.1	-	2	361				ABL2_ENST00000344730.3_Silent_p.Y13Y|ABL2_ENST00000504405.1_Silent_p.Y13Y|ABL2_ENST00000511413.1_Intron|ABL2_ENST00000507173.1_Intron|ABL2_ENST00000392043.3_Intron|ABL2_ENST00000367623.4_Intron|ABL2_ENST00000408940.3_Silent_p.Y13Y|ABL2_ENST00000512653.1_Silent_p.Y13Y	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase						actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GATCTCTGCCATAACTATTAG	0.458			T	ETV6	AML																																	ENST00000408940.3				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65						c.(37-39)taT>taC		c-abl oncogene 2, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						112	109	110					1																	179112141		1958	4143	6101	SO:0001627	intron_variant	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179112141A>G	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"SH2 domain containing"	77	protein-coding gene	gene with protein product	"Abelson-related gene"	164690	"v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)", "v-abl Abelson murine leukemia viral oncogene homolog 2", "c-abl oncogene 2, non-receptor tyrosine kinase"	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.158-9632T>C	1.37:g.179112141A>G						ABL2_ENST00000511413.1_Intron|ABL2_ENST00000344730.3_Silent_p.Y13Y|ABL2_ENST00000507173.1_Intron|ABL2_ENST00000502732.1_Intron|ABL2_ENST00000512653.1_Silent_p.Y13Y|ABL2_ENST00000504405.1_Silent_p.Y13Y|ABL2_ENST00000367623.4_Intron|ABL2_ENST00000392043.3_Intron	p.Y13Y	NM_001168239.1	NP_001161711.1	P42684	ABL2_HUMAN			1	38	-			0			CAP.		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Silent	SNP	ENST00000502732.1	37	c.39T>C	CCDS30947.1																																																																																				0.458	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		7	54	0	0	0	0.047766	0	7	54					G	179112141	A	G	179112141	1	3	304	0	1	0	0	0	0	0	0	0	93	224	8	3		3	ABL2	1	179112141	Intron	SNP	A	TCGA-EM-A2OX-01A-11D-A202-08		179112141	70138480	1	6466											
HRH2	3274	broad.mit.edu	37	chr5	175110700	175110700	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcctttctgtctatccAcctggggtggaacagcagga	11	12	2	0			TCGA-EM-A2OX-01A-11D-A202-08	TCGA-EM-A2OX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474b66e6-0202-43b6-8806-d0470074c286	73556664-4b53-4e6b-94c7-28f1061cf074	g.chr5:175110700A>T	ENST00000231683.2	+	1	2237	c.464A>T	c.(463-465)cAc>cTc	p.H155L	HRH2_ENST00000377291.2_Missense_Mutation_p.H155L	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	155					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	CTGTCTATCCACCTGGGGTGG	0.552																																						ENST00000231683.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22						c.(463-465)cAc>cTc		histamine receptor H2	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)						120	98	106					5																	175110700		2203	4300	6503	SO:0001583	missense	0				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	g.chr5:175110700A>T		CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"GPCR / Class A : Histamine receptors"	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.464A>T	5.37:g.175110700A>T	ENSP00000231683:p.His155Leu					HRH2_ENST00000377291.2_Missense_Mutation_p.H155L	p.H155L	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	1	2237	+	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	155					B5BUP7|Q14464|Q7Z5R9	Missense_Mutation	SNP	ENST00000231683.2	37	c.464A>T	CCDS4395.1	.	.	.	.	.	.	.	.	.	.	A	14.24	2.477393	0.44044	.	.	ENSG00000113749	ENST00000377291;ENST00000231683	T;T	0.68331	-0.32;-0.32	5.27	5.27	0.74061	GPCR, rhodopsin-like superfamily (1);	0.118437	0.64402	D	0.000017	T	0.69904	0.3163	L	0.34521	1.04	0.58432	D	0.999997	B;D	0.56287	0.115;0.975	B;P	0.61003	0.115;0.882	T	0.67715	-0.5599	10	0.30078	T	0.28	.	14.394	0.66999	1.0:0.0:0.0:0.0	.	155;155	P25021;Q7Z5R9	HRH2_HUMAN;.	L	155	ENSP00000366506:H155L;ENSP00000231683:H155L	ENSP00000231683:H155L	H	+	2	0	HRH2	175043306	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.962000	0.93254	2.005000	0.58758	0.379000	0.24179	CAC		0.552	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1			9	58	0	0	0	0.069234	0	9	58					T	175110700	A	T	175110700	3	4	304	1	0	0	0	0	1	0	0	0	7356	159	6	5	466	5	HRH2	5	175110700	Missense_Mutation	SNP	A	TCGA-EM-A2OX-01A-11D-A202-08		175110700	5804560	2	6467											
ZNF117	51351	broad.mit.edu	37	chr7	64438817	64438817	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtatggattatcttatgtgTattaagggctgaggactggt	13	3	1	1			TCGA-EM-A2OX-01A-11D-A202-08	TCGA-EM-A2OX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474b66e6-0202-43b6-8806-d0470074c286	73556664-4b53-4e6b-94c7-28f1061cf074	g.chr7:64438817T>C	ENST00000282869.6	-	4	2416	c.1132A>G	c.(1132-1134)Aca>Gca	p.T378A		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	378					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				ATCTTATGTGTATTAAGGGCT	0.383																																						ENST00000282869.5																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22						c.(1132-1134)Aca>Gca		zinc finger protein 117							112	119	117					7																	64438817		2120	4256	6376	SO:0001583	missense	51351					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:64438817T>C	M27879	CCDS43593.1	7q11.2	2013-01-08	2006-06-12		ENSG00000152926	ENSG00000152926		"Zinc fingers, C2H2-type"	12897	protein-coding gene	gene with protein product		194624	"zinc finger protein 117 (HPF9)"			1427907	Standard	NM_015852		Approved	HPF9, H-plk	uc003ttr.2	Q03924	OTTHUMG00000156631	ENST00000282869.6:c.1132A>G	7.37:g.64438817T>C	ENSP00000282869:p.Thr378Ala						p.T378A	NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN			4	2416	-		Lung NSC(55;0.0295)|all_lung(88;0.0691)	378					Q02313|Q7Z7Q7	Missense_Mutation	SNP	ENST00000282869.6	37	c.1132A>G	CCDS43593.1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.281874	0.00251	.	.	ENSG00000152926	ENST00000282869	T	0.07216	3.21	1.11	-2.23	0.06930	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03520	0.0101	N	0.11023	0.085	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.32214	-0.9915	9	0.19590	T	0.45	.	4.2076	0.10497	0.1605:0.3999:0.0:0.4396	.	378	Q03924	ZN117_HUMAN	A	378	ENSP00000282869:T378A	ENSP00000282869:T378A	T	-	1	0	ZNF117	64076252	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.676000	0.00396	-4.021000	0.00081	-3.237000	0.00051	ACA		0.383	ZNF117-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344863.3	NM_024498		7	53	0	0	0	0.038147	0	7	53					C	64438817	T	C	64438817	3	2	304	1	0	0	0	0	1	0	0	0	17714	1638	57	3	323	3	ZNF117	7	64438817	Missense_Mutation	SNP	T	TCGA-EM-A2OX-01A-11D-A202-08		64438817	94699846	3	6468											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A2OX-01A-11D-A202-08	TCGA-EM-A2OX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474b66e6-0202-43b6-8806-d0470074c286	73556664-4b53-4e6b-94c7-28f1061cf074	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		15	29	0	0	0	0.0333	0	15	29					T	140453136	A	T	140453136	3	4	304	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A2OX-01A-11D-A202-08	76014319	140453136	18685527	4	6469											
JAK2	3717	broad.mit.edu	37	chr9	5029859	5029859	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggtatccacccaaccatgtCttccatatagatgagtcaac	6	12	2	2			TCGA-EM-A2OX-01A-11D-A202-08	TCGA-EM-A2OX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474b66e6-0202-43b6-8806-d0470074c286	73556664-4b53-4e6b-94c7-28f1061cf074	g.chr9:5029859C>T	ENST00000381652.3	+	4	797	c.303C>T	c.(301-303)gtC>gtT	p.V101V	JAK2_ENST00000539801.1_Silent_p.V101V	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	101	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with cytokine/interferon/growth hormone receptors. {ECO:0000250}.				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)	CCAACCATGTCTTCCATATAG	0.368		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.(301-303)gtC>gtT		Janus kinase 2							177	172	174					9																	5029859		2203	4300	6503	SO:0001819	synonymous_variant	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.chr9:5029859C>T		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.303C>T	9.37:g.5029859C>T						JAK2_ENST00000539801.1_Silent_p.V101V	p.V101V	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	4	797	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	101			FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).		O14636|O75297	Silent	SNP	ENST00000381652.3	37	c.303C>T	CCDS6457.1																																																																																				0.368	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			16	99	0	0	0	0.0333	0	16	99					T	5029859	C	T	5029859	2	4	304	1	0	0	0	0	0	0	0	1	7938	900	32	2		2	JAK2	9	5029859	Silent	SNP	C	TCGA-EM-A2OX-01A-11D-A202-08		5029859	136183572	5	6470											
ANKRD30A	91074	broad.mit.edu	37	chr10	37454025	37454025	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgattaaccttttatagatgAgatactcccatcagaatcca	5	9	1	4			TCGA-EM-A2OX-01A-11D-A202-08	TCGA-EM-A2OX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474b66e6-0202-43b6-8806-d0470074c286	73556664-4b53-4e6b-94c7-28f1061cf074	g.chr10:37454025A>T	ENST00000602533.1	+	18	1937	c.1838A>T	c.(1837-1839)gAg>gTg	p.E613V	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.E613V|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E613V			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	669					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TTTATAGATGAGATACTCCCA	0.308																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(1837-1839)gAg>gTg		ankyrin repeat domain 30A							107	99	102					10																	37454025		1796	4055	5851	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37454025A>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1838A>T	10.37:g.37454025A>T	ENSP00000473551:p.Glu613Val					ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E613V|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E613V	p.E613V			Q9BXX3	AN30A_HUMAN			18	1937	+			669					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.1838A>T		.	.	.	.	.	.	.	.	.	.	.	3.629	-0.076035	0.07184	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.05649	3.41;3.41	1.01	-2.02	0.07388	.	.	.	.	.	T	0.02230	0.0069	N	0.08118	0	0.09310	N	1	P	0.37466	0.596	B	0.29862	0.108	T	0.30995	-0.9959	9	0.52906	T	0.07	.	0.2954	0.00265	0.1997:0.2884:0.1969:0.315	.	669	Q9BXX3	AN30A_HUMAN	V	613	ENSP00000354432:E613V;ENSP00000363792:E613V	ENSP00000354432:E613V	E	+	2	0	ANKRD30A	37494031	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.684000	0.05173	-2.321000	0.00641	-2.124000	0.00347	GAG		0.308	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		6	48	0	0	0	0.038147	0	6	48					T	37454025	A	T	37454025	3	4	304	1	0	0	0	0	1	0	0	0	658	304	11	5	1908	5	ANKRD30A	10	37454025	Missense_Mutation	SNP	A	TCGA-EM-A2OX-01A-11D-A202-08		37454025	98080722	6	6471											
CHUK	1147	broad.mit.edu	37	chr10	101953150	101953150	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaggggttactgcaccttcTagactggatcctacaaggga	12	9	1	2			TCGA-EM-A2OX-01A-11D-A202-08	TCGA-EM-A2OX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474b66e6-0202-43b6-8806-d0470074c286	73556664-4b53-4e6b-94c7-28f1061cf074	g.chr10:101953150T>C	ENST00000370397.7	-	19	2099	c.2013A>G	c.(2011-2013)ctA>ctG	p.L671L	CHUK_ENST00000590930.1_5'UTR|RP11-316M21.7_ENST00000443919.1_RNA	NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	671					anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|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)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	CTGCACCTTCTAGACTGGATC	0.473																																					Ovarian(159;52 1904 10536 35305 37148)	ENST00000370397.7																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27						c.(2011-2013)ctA>ctG		conserved helix-loop-helix ubiquitous kinase							108	93	98					10																	101953150		2203	4300	6503	SO:0001819	synonymous_variant	1147				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|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	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity	g.chr10:101953150T>C	AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.2013A>G	10.37:g.101953150T>C						CHUK_ENST00000590930.1_5'UTR	p.L671L	NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	19	2099	-		Colorectal(252;0.117)	671					O14666|Q13132|Q5W0I4|Q92467	Silent	SNP	ENST00000370397.7	37	c.2013A>G	CCDS7488.1																																																																																				0.473	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049836.1	NM_001278		22	51	0	0	0	0.076483	0	22	51					C	101953150	T	C	101953150	2	2	304	1	0	0	0	0	0	0	0	1	3416	1509	53	3		3	CHUK	10	101953150	Silent	SNP	T	TCGA-EM-A2OX-01A-11D-A202-08	64499125	101953150	33581597	7	6472											
MLF2	8079	broad.mit.edu	37	chr12	6859403	6859403	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accttgggggcaccatcaccCgtattggagtaggagatgac	13	10	1	2			TCGA-EM-A2OX-01A-11D-A202-08	TCGA-EM-A2OX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474b66e6-0202-43b6-8806-d0470074c286	73556664-4b53-4e6b-94c7-28f1061cf074	g.chr12:6859403C>A	ENST00000203630.5	-	6	983	c.339G>T	c.(337-339)acG>acT	p.T113T	MLF2_ENST00000539187.1_Silent_p.T113T|MLF2_ENST00000564181.1_5'Flank|MLF2_ENST00000435120.1_Silent_p.T113T|MLF2_ENST00000542154.1_Silent_p.T113T			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	113					defense response (GO:0006952)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.T113T(1)		kidney(2)|large_intestine(3)|lung(4)	9						CACCATCACCCGTATTGGAGT	0.567																																						ENST00000203630.5																			1	Substitution - coding silent(1)	p.T113T(1)	kidney(1)	kidney(2)|large_intestine(3)|lung(4)	9						c.(337-339)acG>acT		myeloid leukemia factor 2							150	146	148					12																	6859403		2203	4300	6503	SO:0001819	synonymous_variant	8079				defense response	cytoplasm|nucleus	protein binding	g.chr12:6859403C>A	U57342	CCDS8559.1	12p13.31	2014-09-11			ENSG00000089693	ENSG00000089693			7126	protein-coding gene	gene with protein product		601401				8661158	Standard	NM_005439		Approved	NTN4	uc010sfi.2	Q15773	OTTHUMG00000168717	ENST00000203630.5:c.339G>T	12.37:g.6859403C>A						MLF2_ENST00000542154.1_Silent_p.T113T|MLF2_ENST00000435120.1_Silent_p.T113T|MLF2_ENST00000539187.1_Silent_p.T113T	p.T113T			Q15773	MLF2_HUMAN			6	983	-			113						Silent	SNP	ENST00000203630.5	37	c.339G>T	CCDS8559.1																																																																																				0.567	MLF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400733.2			5	156	1	0	8.12818e-05	0.02938	0.000130758	5	156					A	6859403	C	A	6859403	2	1	304	1	0	0	0	0	0	0	0	1	9616	639	23	4		4	MLF2	12	6859403	Silent	SNP	C	TCGA-EM-A2OX-01A-11D-A202-08		6859403	126992492	8	6473											
ITGAX	3687	broad.mit.edu	37	chr16	31374648	31374648	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaccggggtgctgtctacCtgtttcacggagtcttggga	14	9	3	1			TCGA-EM-A2OX-01A-11D-A202-08	TCGA-EM-A2OX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474b66e6-0202-43b6-8806-d0470074c286	73556664-4b53-4e6b-94c7-28f1061cf074	g.chr16:31374648C>T	ENST00000268296.4	+	14	1784	c.1663C>T	c.(1663-1665)Ctg>Ttg	p.L555L	ITGAX_ENST00000562522.1_Silent_p.L555L	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	555					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TGCTGTCTACCTGTTTCACGG	0.622																																						ENST00000268296.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(1663-1665)Ctg>Ttg		integrin, alpha X (complement component 3 receptor 4 subunit)							109	111	110					16																	31374648		2197	4300	6497	SO:0001819	synonymous_variant	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31374648C>T	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"CD molecules", "Complement system", "Integrins"	6152	protein-coding gene	gene with protein product		151510	"integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1663C>T	16.37:g.31374648C>T						ITGAX_ENST00000562522.1_Silent_p.L555L	p.L555L	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN			14	1784	+			555					Q8IVA6	Silent	SNP	ENST00000268296.4	37	c.1663C>T	CCDS10711.1																																																																																				0.622	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		38	115	0	0	0	0.086207	0	38	115					T	31374648	C	T	31374648	2	4	304	1	0	0	0	0	0	0	0	1	7889	680	24	2		2	ITGAX	16	31374648	Silent	SNP	C	TCGA-EM-A2OX-01A-11D-A202-08		31374648	58980105	9	6474											
ACD	65057	broad.mit.edu	37	chr16	67692859	67692859	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcatcgtgaggcagcccagTgggtgacagggggtgctgtg	19	8	0	2			TCGA-EM-A2OX-01A-11D-A202-08	TCGA-EM-A2OX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474b66e6-0202-43b6-8806-d0470074c286	73556664-4b53-4e6b-94c7-28f1061cf074	g.chr16:67692859T>C	ENST00000393919.4	-	7	1139	c.875A>G	c.(874-876)cAc>cGc	p.H292R	PARD6A_ENST00000458121.2_5'Flank|ACD_ENST00000219251.8_Missense_Mutation_p.H289R|PARD6A_ENST00000602551.1_5'Flank|PARD6A_ENST00000219255.3_5'Flank			Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	292	Interaction with POT1.				intracellular protein transport (GO:0006886)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of single-stranded telomeric DNA binding (GO:0060381)|positive regulation of telomerase activity (GO:0051973)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GGCAGCCCAGTGGGTGACAGG	0.607																																						ENST00000219251.8																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(865-867)cAc>cGc		adrenocortical dysplasia homolog (mouse)							74	74	74					16																	67692859		2198	4300	6498	SO:0001583	missense	65057				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	g.chr16:67692859T>C	AF070535	CCDS10842.1, CCDS42181.1	16q22	2012-08-23			ENSG00000102977	ENSG00000102977			25070	protein-coding gene	gene with protein product	"TIN2 interacting protein 1", "POT1 and TIN2 organizing protein"	609377				15231715, 15181449	Standard	NM_001082486		Approved	Ptop, Pip1, Tpp1, Tint1	uc002etq.4	Q96AP0	OTTHUMG00000137547	ENST00000393919.4:c.875A>G	16.37:g.67692859T>C	ENSP00000377496:p.His292Arg					ACD_ENST00000393919.4_Missense_Mutation_p.H292R	p.H289R	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	7	1197	-		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	292			Interaction with POT1.		Q562H5|Q9H8F9	Missense_Mutation	SNP	ENST00000393919.4	37	c.866A>G	CCDS42181.1	.	.	.	.	.	.	.	.	.	.	T	2.413	-0.335000	0.05278	.	.	ENSG00000102977	ENST00000219251;ENST00000393919	T;T	0.25912	1.78;1.77	4.96	-2.54	0.06307	.	0.933679	0.09024	N	0.859708	T	0.08537	0.0212	N	0.04880	-0.145	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.36720	-0.9736	10	0.05721	T	0.95	-0.4756	5.4879	0.16759	0.0:0.3791:0.1457:0.4753	.	292;289	Q96AP0;Q96AP0-2	ACD_HUMAN;.	R	289;292	ENSP00000219251:H289R;ENSP00000377496:H292R	ENSP00000219251:H289R	H	-	2	0	ACD	66250360	0.764000	0.28473	0.102000	0.21198	0.331000	0.28603	-0.696000	0.05104	-0.555000	0.06142	-0.464000	0.05259	CAC		0.607	ACD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268880.1	NM_022914		16	75	0	0	0	0.038395	0	16	75					C	67692859	T	C	67692859	3	2	304	1	0	0	0	0	1	0	0	0	135	1696	59	3	783	3	ACD	16	67692859	Missense_Mutation	SNP	T	TCGA-EM-A2OX-01A-11D-A202-08	36318211	67692859	22661894	10	6475											
LYPLAL1	127018	broad.mit.edu	37	chr1	219384958	219384958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatctctaggagtgaccaCgaagtttcatagttttccaa	7	8	2	1			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr1:219384958C>T	ENST00000366928.5	+	5	649	c.602C>T	c.(601-603)aCg>aTg	p.T201M	LYPLAL1_ENST00000483635.1_3'UTR|LYPLAL1_ENST00000366927.3_Missense_Mutation_p.T185M	NM_138794.3	NP_620149	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	201					negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|protein depalmitoylation (GO:0002084)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	lysophospholipase activity (GO:0004622)			large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		GGAGTGACCACGAAGTTTCAT	0.373																																						ENST00000366928.5																			0				large_intestine(1)|lung(5)	6						c.(601-603)aCg>aTg		lysophospholipase-like 1							134	133	133					1																	219384958		2203	4300	6503	SO:0001583	missense	127018					cytoplasm	lysophospholipase activity	g.chr1:219384958C>T	BC016711	CCDS1522.1, CCDS73032.1	1q41	2008-02-05			ENSG00000143353	ENSG00000143353			20440	protein-coding gene	gene with protein product							Standard	XM_005273046		Approved	Q96AV0	uc001hlq.4	Q5VWZ2	OTTHUMG00000037141	ENST00000366928.5:c.602C>T	1.37:g.219384958C>T	ENSP00000355895:p.Thr201Met					LYPLAL1_ENST00000483635.1_3'UTR|LYPLAL1_ENST00000366927.3_Missense_Mutation_p.T185M	p.T201M	NM_138794.3	NP_620149.1	Q5VWZ2	LYPL1_HUMAN		GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)	5	649	+			201					A8K677|Q5VWZ3|Q7Z4A3|Q96AV0	Missense_Mutation	SNP	ENST00000366928.5	37	c.602C>T	CCDS1522.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.014209	0.35511	.	.	ENSG00000143353	ENST00000366928;ENST00000366927	T;T	0.22539	1.95;1.97	6.16	6.16	0.99307	Phospholipase/carboxylesterase/thioesterase (1);	0.222920	0.46442	D	0.000281	T	0.33527	0.0866	M	0.62723	1.935	0.25334	N	0.989005	P;P;P	0.49559	0.925;0.873;0.896	B;B;P	0.46049	0.319;0.279;0.502	T	0.13656	-1.0501	10	0.56958	D	0.05	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	77;185;201	B3KVW3;Q5VWZ2-2;Q5VWZ2	.;.;LYPL1_HUMAN	M	201;185	ENSP00000355895:T201M;ENSP00000355894:T185M	ENSP00000355894:T185M	T	+	2	0	LYPLAL1	217451581	0.075000	0.21258	0.372000	0.25991	0.005000	0.04900	3.714000	0.54889	2.937000	0.99478	0.650000	0.86243	ACG		0.373	LYPLAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090208.1	NM_138794		15	64	0	0	0	0.006122	0	15	64					T	219384958	C	T	219384958	3	4	305	1	0	0	0	0	1	0	0	0	9118	536	19	1	620	1	LYPLAL1	1	219384958	Missense_Mutation	SNP	C	TCGA-EM-A2OY-01A-11D-A202-08		219384958	29865663	1	6476											
EHBP1	23301	broad.mit.edu	37	chr2	62934336	62934336	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactgatcatcatggcttcaGtttggaagagactgcagcgt	12	8	3	2			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr2:62934336G>T	ENST00000263991.5	+	2	492	c.10G>T	c.(10-12)Gtt>Ttt	p.V4F	EHBP1_ENST00000405015.3_Missense_Mutation_p.V4F|EHBP1_ENST00000405289.1_Missense_Mutation_p.V4F|EHBP1_ENST00000431489.1_Missense_Mutation_p.V4F|EHBP1_ENST00000354487.3_Missense_Mutation_p.V4F	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	4						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			CATGGCTTCAGTTTGGAAGAG	0.463																																						ENST00000263991.5																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47						c.(10-12)Gtt>Ttt		EH domain binding protein 1							141	134	137					2																	62934336		2203	4300	6503	SO:0001583	missense	23301					cytoplasm|membrane		g.chr2:62934336G>T	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.10G>T	2.37:g.62934336G>T	ENSP00000263991:p.Val4Phe					EHBP1_ENST00000431489.1_Missense_Mutation_p.V4F|EHBP1_ENST00000405289.1_Missense_Mutation_p.V4F|EHBP1_ENST00000354487.3_Missense_Mutation_p.V4F|EHBP1_ENST00000405015.3_Missense_Mutation_p.V4F	p.V4F	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		2	492	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		4					O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	ENST00000263991.5	37	c.10G>T	CCDS1872.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443618	0.83993	.	.	ENSG00000115504	ENST00000405015;ENST00000405482;ENST00000427809;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	D;T;D;D;D;D	0.82433	-1.61;0.21;-1.61;-1.6;-1.6;-1.6	4.97	4.97	0.65823	.	0.000000	0.64402	D	0.000004	D	0.91300	0.7257	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.89917	1.0;0.971;0.963;1.0	D;B;P;D	0.85130	0.997;0.441;0.839;0.997	D	0.92530	0.6032	10	0.87932	D	0	.	18.2632	0.90043	0.0:0.0:1.0:0.0	.	4;4;4;4	Q8NDI1-2;A8K930;Q8NDI1-3;Q8NDI1	.;.;.;EHBP1_HUMAN	F	4	ENSP00000384143:V4F;ENSP00000384829:V4F;ENSP00000403783:V4F;ENSP00000263991:V4F;ENSP00000346482:V4F;ENSP00000385524:V4F	ENSP00000263991:V4F	V	+	1	0	EHBP1	62787840	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.799000	0.99117	2.289000	0.77006	0.655000	0.94253	GTT		0.463	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		19	36	1	0	3.6726e-16	0.003954	7.09192e-16	19	36					T	62934336	G	T	62934336	3	4	305	1	0	0	0	0	1	0	0	0	4975	1029	36	4	12	4	EHBP1	2	62934336	Missense_Mutation	SNP	G	TCGA-EM-A2OY-01A-11D-A202-08		62934336	180265037	2	6477											
ETAA1	54465	broad.mit.edu	37	chr2	67630066	67630066	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctattccttgtactcccagtGtagcaaaaggaaaatcaaga	7	9	1	1			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr2:67630066G>T	ENST00000272342.5	+	4	632	c.502G>T	c.(502-504)Gta>Tta	p.V168L	ETAA1_ENST00000462772.1_3'UTR	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	168						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TACTCCCAGTGTAGCAAAAGG	0.353																																						ENST00000272342.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						c.(502-504)Gta>Tta		Ewing tumor-associated antigen 1							107	102	104					2																	67630066		2203	4299	6502	SO:0001583	missense	54465					cytoplasm|nucleus		g.chr2:67630066G>T	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"Ewing's tumor-associated antigen 1"			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.502G>T	2.37:g.67630066G>T	ENSP00000272342:p.Val168Leu					ETAA1_ENST00000462772.1_3'UTR	p.V168L	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN			4	632	+			168					Q05BT7|Q53SC4	Missense_Mutation	SNP	ENST00000272342.5	37	c.502G>T	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316894	0.60524	.	.	ENSG00000143971	ENST00000272342	T	0.24350	1.86	6.16	3.01	0.34805	.	0.194336	0.43747	D	0.000523	T	0.40670	0.1126	M	0.71581	2.175	0.44175	D	0.996981	D	0.67145	0.996	P	0.54924	0.764	T	0.43718	-0.9374	10	0.87932	D	0	-0.5245	12.2802	0.54759	0.2143:0.0:0.7857:0.0	.	168	Q9NY74	ETAA1_HUMAN	L	168	ENSP00000272342:V168L	ENSP00000272342:V168L	V	+	1	0	ETAA1	67483570	0.892000	0.30473	0.946000	0.38457	0.937000	0.57800	1.077000	0.30741	0.947000	0.37659	-0.145000	0.13849	GTA		0.353	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		3	51	1	0	0.004672	0.004672	0.00872107	3	51					T	67630066	G	T	67630066	3	4	305	1	0	0	0	0	1	0	0	0	5267	1377	48	4	516	4	ETAA1	2	67630066	Missense_Mutation	SNP	G	TCGA-EM-A2OY-01A-11D-A202-08	4695730	67630066	175569307	3	6478											
C2orf83	56918	broad.mit.edu	37	chr2	228476316	228476316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcagcccgcatgtctgtaCggtaagtttcctcatccctg	10	13	3	0	rs111332429		TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr2:228476316C>T	ENST00000264387.4	-	3	333	c.247G>A	c.(247-249)Gta>Ata	p.V83I	C2orf83_ENST00000409066.1_3'UTR	NM_020161.3	NP_064546.3	Q53S99	CB083_HUMAN	chromosome 2 open reading frame 83	83					transport (GO:0006810)	membrane (GO:0016020)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						CATGTCTGTACGGTAAGTTTC	0.468													C|||	1	0.000199681	0	0.0014	5008	,	,		19316	0		0	False		,,,				2504	0					ENST00000264387.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						c.(247-249)Gta>Ata		chromosome 2 open reading frame 83		C	,ILE/VAL	10,4396	16.8+/-37.8	0,10,2193	87	92	90		,247	-0.5	0.0	2	dbSNP_132	90	0,8600		0,0,4300	yes	utr-3,missense	C2orf83	NM_001162483.1,NM_020161.3	,29	0,10,6493	TT,TC,CC		0.0,0.227,0.0769	,benign	,83/151	228476316	10,12996	2203	4300	6503	SO:0001583	missense	56918					membrane	folic acid binding|reduced folate carrier activity	g.chr2:228476316C>T		CCDS33388.1, CCDS54434.1	2q36.3	2008-09-16			ENSG00000042304	ENSG00000042304			25344	protein-coding gene	gene with protein product							Standard	NM_020161		Approved	DKFZp547H025	uc002vph.3	Q53S99	OTTHUMG00000153550	ENST00000264387.4:c.247G>A	2.37:g.228476316C>T	ENSP00000264387:p.Val83Ile					C2orf83_ENST00000409066.1_3'UTR	p.V83I	NM_020161.3	NP_064546.3	Q53S99	CB083_HUMAN			3	333	-			83					A2RRG6|B8ZZI8|Q9NPW4	Missense_Mutation	SNP	ENST00000264387.4	37	c.247G>A	CCDS33388.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	9.501	1.103294	0.20632	0.00227	0.0	ENSG00000042304	ENST00000264387	T	0.59638	0.25	2.38	-0.461	0.12172	.	.	.	.	.	T	0.35335	0.0928	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.24368	-1.0162	9	0.72032	D	0.01	.	5.1469	0.14989	0.0:0.5472:0.0:0.4528	.	83	Q53S99	CB083_HUMAN	I	83	ENSP00000264387:V83I	ENSP00000264387:V83I	V	-	1	0	C2orf83	228184560	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.706000	0.05047	-0.133000	0.11537	-0.219000	0.12488	GTA		0.468	C2orf83-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331607.1	NM_020161		6	55	0	0	0	0.001168	0	6	55					T	228476316	C	T	228476316	3	4	305	1	0	0	0	0	1	0	0	0	2198	536	19	1	209	1	C2orf83	2	228476316	Missense_Mutation	SNP	C	TCGA-EM-A2OY-01A-11D-A202-08	160846250	228476316	14723057	4	6479											
AP3B1	8546	broad.mit.edu	37	chr5	77311327	77311327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggagtgaaattctgtggtGcagcaatgattacagcagaa	13	5	1	3			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr5:77311327G>A	ENST00000255194.6	-	26	3213	c.3038C>T	c.(3037-3039)gCa>gTa	p.A1013V	AP3B1_ENST00000519295.1_Missense_Mutation_p.A964V	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	1013					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		ATTCTGTGGTGCAGCAATGAT	0.383									Hermansky-Pudlak syndrome																													ENST00000255194.6																			0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39						c.(3037-3039)gCa>gTa		adaptor-related protein complex 3, beta 1 subunit							110	110	110					5																	77311327		2203	4300	6503	SO:0001583	missense	8546	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77311327G>A	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.3038C>T	5.37:g.77311327G>A	ENSP00000255194:p.Ala1013Val					AP3B1_ENST00000519295.1_Missense_Mutation_p.A964V	p.A1013V	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	26	3213	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	1013					E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	ENST00000255194.6	37	c.3038C>T	CCDS4041.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.49|12.49	1.954887|1.954887	0.34471|0.34471	.|.	.|.	ENSG00000132842|ENSG00000132842	ENST00000255194;ENST00000519295|ENST00000522901	T;T|.	0.55930|.	0.49;0.49|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.234278|.	0.43110|.	D|.	0.000613|.	T|T	0.47525|0.47525	0.1450|0.1450	L|L	0.38175|0.38175	1.15|1.15	0.31732|0.31732	N|N	0.636965|0.636965	B|.	0.32573|.	0.376|.	B|.	0.30401|.	0.115|.	T|T	0.52540|0.52540	-0.8562|-0.8562	10|5	0.30854|.	T|.	0.27|.	-8.5507|-8.5507	14.2101|14.2101	0.65759|0.65759	0.0:0.0:0.8506:0.1494|0.0:0.0:0.8506:0.1494	.|.	1013|.	O00203|.	AP3B1_HUMAN|.	V|Y	1013;964|113	ENSP00000255194:A1013V;ENSP00000430597:A964V|.	ENSP00000255194:A1013V|.	A|H	-|-	2|1	0|0	AP3B1|AP3B1	77347083|77347083	1.000000|1.000000	0.71417|0.71417	0.544000|0.544000	0.28141|0.28141	0.876000|0.876000	0.50452|0.50452	6.260000|6.260000	0.72502|0.72502	2.579000|2.579000	0.87056|0.87056	0.655000|0.655000	0.94253|0.94253	GCA|CAC		0.383	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			24	75	0	0	0	0.003954	0	24	75					A	77311327	G	A	77311327	3	1	305	1	0	0	0	0	1	0	0	0	744	1319	46	2	254	2	AP3B1	5	77311327	Missense_Mutation	SNP	G	TCGA-EM-A2OY-01A-11D-A202-08		77311327	103603933	5	6480											
GRM6	2916	broad.mit.edu	37	chr5	178408846	178408846	+	Frame_Shift_Del	DEL	G	G	-													cacggttagcgtggttgtctGgatgtagatctaggccatgg							TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr5:178408846delG	ENST00000517717.1	-	11	2484	c.2446delC	c.(2446-2448)cagfs	p.Q816fs	GRM6_ENST00000231188.5_Frame_Shift_Del_p.Q816fs|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	816					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|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)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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)	all cancers(165;0.245)		GTGGTTGTCTGGATGTAGATC	0.577																																						ENST00000231188.5																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(2446-2448)agfs		glutamate receptor, metabotropic 6							159	135	143					5																	178408846		2203	4300	6503	SO:0001589	frameshift_variant	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178408846delG	U82083	CCDS4442.1	5q35	2014-01-28						"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.2446delC	5.37:g.178408846delG	ENSP00000430767:p.Gln816fs					GRM6_ENST00000517717.1_Frame_Shift_Del_p.Q816fs|RP11-281O15.4_ENST00000519491.1_RNA	p.Q816fs	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	10	2624	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	816						Frame_Shift_Del	DEL	ENST00000517717.1	37	c.2446delC	CCDS4442.1																																																																																				0.577	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			67	227						67	227	---	---	---	---	-	178408846	G	-	178408846	7	5	305	1	0	1	0	1	0	0	0	0	6801	1357	47	0	191	0	GRM6	5	178408846	Frame_Shift_Del	DEL	G	TCGA-EM-A2OY-01A-11D-A202-08	101097519	178408846	2506414	6	6481											
COL12A1	1303	broad.mit.edu	37	chr6	75843113	75843113	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagattcctaagaatggcaTaattggtattcccggggatt	11	7	0	2			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr6:75843113T>C	ENST00000322507.8	-	34	5999	c.5690A>G	c.(5689-5691)tAt>tGt	p.Y1897C	COL12A1_ENST00000483888.2_Missense_Mutation_p.Y1897C|COL12A1_ENST00000416123.2_Missense_Mutation_p.Y1897C|COL12A1_ENST00000345356.6_Missense_Mutation_p.Y733C	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1897	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AAGAATGGCATAATTGGTATT	0.368																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(5689-5691)tAt>tGt		collagen, type XII, alpha 1							108	99	102					6																	75843113		1852	4086	5938	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75843113T>C	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.5690A>G	6.37:g.75843113T>C	ENSP00000325146:p.Tyr1897Cys					COL12A1_ENST00000483888.2_Missense_Mutation_p.Y1897C|COL12A1_ENST00000345356.6_Missense_Mutation_p.Y733C|COL12A1_ENST00000416123.2_Missense_Mutation_p.Y1897C	p.Y1897C	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			34	5999	-			1897			Fibronectin type-III 14.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.5690A>G	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	T	18.63	3.665310	0.67700	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.4	5.4	0.78164	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000008	T	0.56992	0.2023	L	0.47716	1.5	0.41843	D	0.990133	D;D	0.76494	0.998;0.999	P;D	0.69142	0.906;0.962	T	0.58126	-0.7691	10	0.44086	T	0.13	.	15.7265	0.77763	0.0:0.0:0.0:1.0	.	733;1897	Q99715-2;Q99715	.;COCA1_HUMAN	C	1897;1897;733;1897;1897	ENSP00000325146:Y1897C;ENSP00000305147:Y733C;ENSP00000412864:Y1897C;ENSP00000421216:Y1897C	ENSP00000325146:Y1897C	Y	-	2	0	COL12A1	75899833	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.692000	0.37731	2.169000	0.68431	0.528000	0.53228	TAT		0.368	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		17	39	0	0	0	0.006122	0	17	39					C	75843113	T	C	75843113	3	2	305	1	0	0	0	0	1	0	0	0	3669	1406	49	3	3633	3	COL12A1	6	75843113	Missense_Mutation	SNP	T	TCGA-EM-A2OY-01A-11D-A202-08		75843113	95271954	7	6482											
GPR141	353345	broad.mit.edu	37	chr7	37780300	37780300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacatccacatgtacctcaCgttcctattctatgtggtga	7	12	2	1			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr7:37780300C>T	ENST00000447769.1	+	4	594	c.305C>T	c.(304-306)aCg>aTg	p.T102M	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.T102M			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATGTACCTCACGTTCCTATTC	0.473																																						ENST00000447769.1																			0				NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(304-306)aCg>aTg		G protein-coupled receptor 141							116	100	106					7																	37780300		2203	4300	6503	SO:0001583	missense	353345					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:37780300C>T	AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"GPCR / Class A : Orphans"	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.305C>T	7.37:g.37780300C>T	ENSP00000390410:p.Thr102Met					EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.T102M	p.T102M			Q7Z602	GP141_HUMAN			4	594	+			102					A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	SNP	ENST00000447769.1	37	c.305C>T	CCDS5451.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522166	0.64747	.	.	ENSG00000187037	ENST00000450180;ENST00000447769;ENST00000334425	T;T;T	0.38240	1.15;1.15;1.15	5.06	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.189693	0.47093	D	0.000250	T	0.61702	0.2368	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.66048	-0.6020	10	0.87932	D	0	-23.681	17.5994	0.88022	0.0:1.0:0.0:0.0	.	102	Q7Z602	GP141_HUMAN	M	102	ENSP00000396300:T102M;ENSP00000390410:T102M;ENSP00000334540:T102M	ENSP00000334540:T102M	T	+	2	0	GPR141	37746825	0.988000	0.35896	0.918000	0.36340	0.800000	0.45204	2.972000	0.49256	2.517000	0.84864	0.650000	0.86243	ACG		0.473	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	NM_181791		22	78	0	0	0	0.010504	0	22	78					T	37780300	C	T	37780300	3	4	305	1	0	0	0	0	1	0	0	0	6649	536	19	1	307	1	GPR141	7	37780300	Missense_Mutation	SNP	C	TCGA-EM-A2OY-01A-11D-A202-08		37780300	121358363	8	6483											
CNPY4	245812	broad.mit.edu	37	chr7	99720117	99720117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccacagagagacaaggctgGaagaggccttagagaattta	12	7	0	4			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr7:99720117G>A	ENST00000262932.3	+	3	391	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	CNPY4_ENST00000480692.1_3'UTR|RP11-506M12.1_ENST00000494221.1_RNA|TAF6_ENST00000437822.2_5'Flank	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	87						extracellular region (GO:0005576)				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GACAAGGCTGGAAGAGGCCTT	0.537																																						ENST00000262932.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(259-261)Gaa>Aaa		canopy FGF signaling regulator 4							120	129	126					7																	99720117		2203	4300	6503	SO:0001583	missense	245812					extracellular region		g.chr7:99720117G>A	AK075537	CCDS34701.1	7q22.1	2013-07-23	2013-07-23		ENSG00000166997	ENSG00000166997			28631	protein-coding gene	gene with protein product	"protein associated with TLR4"	610047	"canopy 4 homolog (zebrafish)"			12975309	Standard	NM_152755		Approved	MGC40499, PRAT4B	uc003uto.3	Q8N129	OTTHUMG00000154817	ENST00000262932.3:c.259G>A	7.37:g.99720117G>A	ENSP00000262932:p.Glu87Lys					CNPY4_ENST00000480692.1_3'UTR|RP11-506M12.1_ENST00000494221.1_RNA	p.E87K	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN			3	391	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		87					Q8WUN9	Missense_Mutation	SNP	ENST00000262932.3	37	c.259G>A	CCDS34701.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530458	0.85706	.	.	ENSG00000166997	ENST00000262932	T	0.35973	1.28	5.39	5.39	0.77823	.	0.118890	0.64402	D	0.000019	T	0.37073	0.0990	L	0.36672	1.1	0.38865	D	0.956564	P	0.47545	0.897	P	0.48488	0.579	T	0.10245	-1.0638	10	0.29301	T	0.29	-13.7383	14.6431	0.68739	0.0:0.0:1.0:0.0	.	87	Q8N129	CNPY4_HUMAN	K	87	ENSP00000262932:E87K	ENSP00000262932:E87K	E	+	1	0	CNPY4	99558053	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	5.356000	0.66052	2.509000	0.84616	0.561000	0.74099	GAA		0.537	CNPY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337224.4	NM_152755		53	249	0	0	0	0.01441	0	53	249					A	99720117	G	A	99720117	3	1	305	1	0	0	0	0	1	0	0	0	3630	1175	41	2	269	2	CNPY4	7	99720117	Missense_Mutation	SNP	G	TCGA-EM-A2OY-01A-11D-A202-08	61939817	99720117	59418546	9	6484											
TLL2	7093	broad.mit.edu	37	chr10	98155751	98155751	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agattgaatctgaccggcatCtttgttcatgtctcccccgc	8	13	4	3			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr10:98155751C>T	ENST00000357947.3	-	12	1636	c.1411G>A	c.(1411-1413)Gat>Aat	p.D471N	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	471	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TGACCGGCATCTTTGTTCATG	0.517											OREG0020398	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000357947.3																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(1411-1413)Gat>Aat		tolloid-like 2							99	102	101					10																	98155751		2203	4300	6503	SO:0001583	missense	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98155751C>T	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1411G>A	10.37:g.98155751C>T	ENSP00000350630:p.Asp471Asn		OREG0020398	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1333	TLL2_ENST00000469598.1_5'UTR	p.D471N	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	12	1636	-		Colorectal(252;0.0846)	471			CUB 2.		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	c.1411G>A	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.115833	0.77323	.	.	ENSG00000095587	ENST00000357947	T	0.17691	2.26	5.37	5.37	0.77165	CUB (5);	0.000000	0.47093	D	0.000244	T	0.31544	0.0800	L	0.38175	1.15	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01323	-1.1385	10	0.15952	T	0.53	.	18.2839	0.90107	0.0:1.0:0.0:0.0	.	471	Q9Y6L7	TLL2_HUMAN	N	471	ENSP00000350630:D471N	ENSP00000350630:D471N	D	-	1	0	TLL2	98145741	1.000000	0.71417	0.992000	0.48379	0.586000	0.36452	5.886000	0.69743	2.793000	0.96121	0.563000	0.77884	GAT		0.517	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			37	94	0	0	0	0.01441	0	37	94					T	98155751	C	T	98155751	3	4	305	1	0	0	0	0	1	0	0	0	15943	913	32	2	1676	2	TLL2	10	98155751	Missense_Mutation	SNP	C	TCGA-EM-A2OY-01A-11D-A202-08		98155751	37378996	10	6485											
UBQLN3	50613	broad.mit.edu	37	chr11	5528997	5528997	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actaactaaatcttgcagcaTatggagaaagggaggggaaa	12	5	1	1			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr11:5528997T>C	ENST00000311659.4	-	2	1939	c.1792A>G	c.(1792-1794)Atg>Gtg	p.M598V	HBG2_ENST00000380252.1_5'Flank|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_5'Flank|AC104389.28_ENST00000415970.1_RNA	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	598										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTTGCAGCATATGGAGAAAG	0.542																																					Ovarian(72;684 1260 12332 41642 52180)	ENST00000311659.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(1792-1794)Atg>Gtg		ubiquilin 3							62	66	65					11																	5528997		2201	4297	6498	SO:0001583	missense	50613							g.chr11:5528997T>C	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"Ubiquilin family"	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.1792A>G	11.37:g.5528997T>C	ENSP00000347997:p.Met598Val					HBG2_ENST00000380259.2_Intron	p.M598V	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1939	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	598					Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	c.1792A>G	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	t	0.023	-1.403194	0.01165	.	.	ENSG00000175520	ENST00000311659	T	0.40225	1.04	5.02	-0.0539	0.13816	UBA-like (1);	0.635417	0.14713	N	0.302800	T	0.29524	0.0736	M	0.64080	1.96	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29671	-1.0004	10	0.10377	T	0.69	0.1253	2.7558	0.05292	0.3229:0.1835:0.0:0.4936	.	598	Q9H347	UBQL3_HUMAN	V	598	ENSP00000347997:M598V	ENSP00000347997:M598V	M	-	1	0	UBQLN3	5485573	0.001000	0.12720	0.029000	0.17559	0.022000	0.10575	0.613000	0.24299	-0.095000	0.12351	-1.168000	0.01747	ATG		0.542	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		59	40	0	0	0	0.01441	0	59	40					C	5528997	T	C	5528997	3	2	305	1	0	0	0	0	1	0	0	0	16895	1406	49	3	179	3	UBQLN3	11	5528997	Missense_Mutation	SNP	T	TCGA-EM-A2OY-01A-11D-A202-08		5528997	129477519	11	6486											
LRTM2	654429	broad.mit.edu	37	chr12	1940261	1940261	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acccgaaccctcttgctcttGaacaataagctgagtgccct	7	14	2	2			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr12:1940261G>A	ENST00000543818.1	+	4	1070	c.228G>A	c.(226-228)ttG>ttA	p.L76L	LRTM2_ENST00000535041.1_Silent_p.L76L|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000299194.1_Silent_p.L76L|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000588077.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	76						integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			TCTTGCTCTTGAACAATAAGC	0.642																																						ENST00000543818.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(226-228)ttG>ttA		leucine-rich repeats and transmembrane domains 2							76	84	82					12																	1940261		2203	4300	6503	SO:0001819	synonymous_variant	0					integral to membrane		g.chr12:1940261G>A	AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.228G>A	12.37:g.1940261G>A						LRTM2_ENST00000299194.1_Silent_p.L76L|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000587995.1_Intron|LRTM2_ENST00000535041.1_Silent_p.L76L|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000588077.1_Intron	p.L76L	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000834)		4	1070	+	Ovarian(42;0.107)		76					A7E2U6	Silent	SNP	ENST00000543818.1	37	c.228G>A	CCDS31726.1																																																																																				0.642	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398055.1			60	192	0	0	0	0.01441	0	60	192					A	1940261	G	A	1940261	2	1	305	1	0	0	0	0	0	0	0	1	9045	1281	45	2		2	LRTM2	12	1940261	Silent	SNP	G	TCGA-EM-A2OY-01A-11D-A202-08		1940261	131911634	12	6487											
C14orf109	64112	broad.mit.edu	37	chr14	93652904	93652904	+	5'Flank	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtacaagagctgatcccaAaacagtgggctactgtatca	9	9	1	2			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr14:93652904A>G	ENST00000556883.1	-	0	0				RP11-371E8.4_ENST00000557048.1_Intron|TMEM251_ENST00000415050.2_Missense_Mutation_p.K133R|MOAP1_ENST00000298894.4_5'Flank|TMEM251_ENST00000283534.4_Missense_Mutation_p.K95R|RP11-371E8.4_ENST00000557574.1_Intron			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1						apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		GCTGATCCCAAAACAGTGGGC	0.418																																						ENST00000415050.2																			0											c.(397-399)aAa>aGa		transmembrane protein 251							172	164	166					14																	93652904		1918	4126	6044	SO:0001631	upstream_gene_variant	26175							g.chr14:93652904A>G	BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"Paraneoplastic Ma antigens"	16658	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 4"	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184		14.37:g.93652904A>G	Exception_encountered					RP11-371E8.4_ENST00000557048.1_Intron|RP11-371E8.4_ENST00000557574.1_Intron|TMEM251_ENST00000283534.4_Missense_Mutation_p.K95R	p.K133R	NM_001098621.1	NP_001092091.1					2	773	+								B2RDF6|Q9H833|Q9HAS1	Missense_Mutation	SNP	ENST00000556883.1	37	c.398A>G	CCDS9908.1	.	.	.	.	.	.	.	.	.	.	A	16.32	3.089705	0.55968	.	.	ENSG00000153485	ENST00000283534;ENST00000415050	.	.	.	5.86	5.86	0.93980	.	0.051642	0.85682	D	0.000000	T	0.47154	0.1430	N	0.19112	0.55	0.54753	D	0.999984	B	0.30146	0.27	B	0.32533	0.147	T	0.48019	-0.9071	9	0.52906	T	0.07	-23.2635	16.3082	0.82856	1.0:0.0:0.0:0.0	.	127	Q8N6I4	CN109_HUMAN	R	95;133	.	ENSP00000283534:K95R	K	+	2	0	C14orf109	92722657	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.265000	0.78442	2.250000	0.74265	0.456000	0.33151	AAA		0.418	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412685.1			5	239	0	0	0	0.000602	0	5	239					G	93652904	A	G	93652904	1	3	305	0	1	0	0	0	0	0	0	0	1739	14	1	3		3	C14orf109	14	93652904	5'Flank	SNP	A	TCGA-EM-A2OY-01A-11D-A202-08		93652904	13696636	13	6488											
C14orf73	91828	broad.mit.edu	37	chr14	103568560	103568560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgagaaggcctcgcgcaCctttgagcaggaccctacgg	14	14	0	2			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr14:103568560C>T	ENST00000380069.3	+	2	576	c.500C>T	c.(499-501)aCc>aTc	p.T167I		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	167					exocytosis (GO:0006887)	exocyst (GO:0000145)				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						GCCTCGCGCACCTTTGAGCAG	0.657																																						ENST00000380069.3																			0				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						c.(499-501)aCc>aTc		exocyst complex component 3-like 4							13	14	13					14																	103568560		2200	4296	6496	SO:0001583	missense	91828							g.chr14:103568560C>T	AK000671	CCDS32163.1	14q32.32	2011-01-31	2011-01-31	2011-01-31	ENSG00000205436	ENSG00000205436			20120	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 73"	C14orf73			Standard	NM_001077594		Approved		uc001ymk.3	Q17RC7		ENST00000380069.3:c.500C>T	14.37:g.103568560C>T	ENSP00000369409:p.Thr167Ile						p.T167I	NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN			2	576	+			167					Q14CR2	Missense_Mutation	SNP	ENST00000380069.3	37	c.500C>T	CCDS32163.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817588	0.32145	.	.	ENSG00000205436	ENST00000380069	T	0.05717	3.4	3.93	1.98	0.26296	.	0.513660	0.16187	N	0.225588	T	0.05227	0.0139	L	0.34521	1.04	0.09310	N	1	P	0.47302	0.893	B	0.40165	0.321	T	0.35599	-0.9782	10	0.66056	D	0.02	-10.9008	8.047	0.30555	0.1736:0.6563:0.1701:0.0	.	167	Q17RC7	EX3L4_HUMAN	I	167	ENSP00000369409:T167I	ENSP00000369409:T167I	T	+	2	0	EXOC3L4	102638313	0.000000	0.05858	0.790000	0.31976	0.815000	0.46073	0.193000	0.17116	2.004000	0.58718	0.555000	0.69702	ACC		0.657	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415663.1	XM_941093		6	19	0	0	0	0.001168	0	6	19					T	103568560	C	T	103568560	3	4	305	1	0	0	0	0	1	0	0	0	1779	507	18	2	506	2	C14orf73	14	103568560	Missense_Mutation	SNP	C	TCGA-EM-A2OY-01A-11D-A202-08	9915656	103568560	3780980	14	6489											
FUK	197258	broad.mit.edu	37	chr16	70509259	70509259	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccttctgcaggggcccTgctgaaggcggccttcatct	12	14	3	1			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr16:70509259T>C	ENST00000288078.6	+	19	2616	c.2384T>C	c.(2383-2385)cTg>cCg	p.L795P	FUK_ENST00000378912.2_Missense_Mutation_p.L827P|FUK_ENST00000571514.1_Missense_Mutation_p.L286P	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	795						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GCAGGGGCCCTGCTGAAGGCG	0.627																																						ENST00000288078.6																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23						c.(2383-2385)cTg>cCg		fucokinase							46	49	48					16																	70509259		2055	4190	6245	SO:0001583	missense	197258					cytoplasm	ATP binding|fucokinase activity	g.chr16:70509259T>C		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"L-fucose kinase"	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.2384T>C	16.37:g.70509259T>C	ENSP00000288078:p.Leu795Pro					FUK_ENST00000571514.1_Missense_Mutation_p.L286P|FUK_ENST00000378912.2_Missense_Mutation_p.L827P	p.L795P	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN			19	2616	+		Ovarian(137;0.0694)	795					Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Missense_Mutation	SNP	ENST00000288078.6	37	c.2384T>C	CCDS10891.2	.	.	.	.	.	.	.	.	.	.	T	22.3	4.267866	0.80469	.	.	ENSG00000157353	ENST00000288078;ENST00000378912;ENST00000538525	D;D	0.92397	-3.03;-3.03	5.12	5.12	0.69794	Ribosomal protein S5 domain 2-type fold (1);	0.000000	0.64402	D	0.000002	D	0.96500	0.8858	M	0.89478	3.035	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.98;0.986	D	0.97285	0.9920	10	0.87932	D	0	-13.9003	15.078	0.72090	0.0:0.0:0.0:1.0	.	827;701;795	Q8N0W3-2;B2RDL5;Q8N0W3	.;.;FUK_HUMAN	P	795;827;109	ENSP00000288078:L795P;ENSP00000368192:L827P	ENSP00000288078:L795P	L	+	2	0	FUK	69066760	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.126000	0.77201	2.150000	0.67090	0.454000	0.30748	CTG		0.627	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059		3	86	0	0	0	0.004672	0	3	86					C	70509259	T	C	70509259	3	2	305	1	0	0	0	0	1	0	0	0	6096	1580	55	3	2454	3	FUK	16	70509259	Missense_Mutation	SNP	T	TCGA-EM-A2OY-01A-11D-A202-08		70509259	19845494	15	6490											
KRTAP4-2	85291	broad.mit.edu	37	chr17	39334209	39334209	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaggtggtcctgcagcAagtggtctggcagcagctgg	17	10	1	0			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr17:39334209A>G	ENST00000377726.2	-	1	251	c.208T>C	c.(208-210)Tgc>Cgc	p.C70R		NM_033062.3	NP_149051	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	70	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament (GO:0045095)				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GTCCTGCAGCAAGTGGTCTGG	0.672																																						ENST00000377726.2																			0				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7						c.(208-210)Tgc>Cgc		keratin associated protein 4-2							42	48	46					17																	39334209		2202	4298	6500	SO:0001583	missense	85291					keratin filament		g.chr17:39334209A>G	AJ406934	CCDS11384.1	17q21.2	2013-06-25			ENSG00000244537	ENSG00000244537		"Keratin associated proteins"	18900	protein-coding gene	gene with protein product						11279113	Standard	NM_033062		Approved	KAP4.2	uc002hwd.3	Q9BYR5	OTTHUMG00000133437	ENST00000377726.2:c.208T>C	17.37:g.39334209A>G	ENSP00000366955:p.Cys70Arg						p.C70R	NM_033062.3	NP_149051.1	Q9BYR5	KRA42_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	251	-		Breast(137;0.000496)	70			20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].		A0JP64	Missense_Mutation	SNP	ENST00000377726.2	37	c.208T>C	CCDS11384.1	.	.	.	.	.	.	.	.	.	.	.	13.24	2.178797	0.38511	.	.	ENSG00000244537	ENST00000377726;ENST00000458321	T	0.04862	3.54	4.59	3.51	0.40186	.	.	.	.	.	T	0.31420	0.0796	H	0.96889	3.9	0.39658	D	0.970576	D	0.67145	0.996	D	0.83275	0.996	T	0.08066	-1.0740	9	0.87932	D	0	.	4.1294	0.10143	0.7211:0.0:0.0995:0.1794	.	70	Q9BYR5	KRA42_HUMAN	R	70;187	ENSP00000366955:C70R	ENSP00000366955:C70R	C	-	1	0	KRTAP4-2	36587735	0.654000	0.27367	0.126000	0.21872	0.006000	0.05464	2.179000	0.42528	0.708000	0.31955	0.460000	0.39030	TGC		0.672	KRTAP4-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257305.1			24	148	0	0	0	0.004656	0	24	148					G	39334209	A	G	39334209	3	3	305	1	0	0	0	0	1	0	0	0	8551	130	5	3	206	3	KRTAP4-2	17	39334209	Missense_Mutation	SNP	A	TCGA-EM-A2OY-01A-11D-A202-08		39334209	41861001	16	6491											
SHROOM2	357	broad.mit.edu	37	chrX	9862838	9862838	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcccctgggaggtccaAttttgggccagtctggtatg	15	10	1	0			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chrX:9862838A>G	ENST00000380913.3	+	4	980	c.890A>G	c.(889-891)aAt>aGt	p.N297S		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	297					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GGGAGGTCCAATTTTGGGCCA	0.612																																						ENST00000380913.3																			0				breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57						c.(889-891)aAt>aGt		shroom family member 2							39	31	34					X																	9862838		2203	4300	6503	SO:0001583	missense	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9862838A>G	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"apical protein, Xenopus laevis-like", "apical protein-like (Xenopus laevis)"	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.890A>G	X.37:g.9862838A>G	ENSP00000370299:p.Asn297Ser						p.N297S	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN			4	980	+		Hepatocellular(5;0.000888)	297					B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	c.890A>G	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	A	1.090	-0.664297	0.03428	.	.	ENSG00000146950	ENST00000380913	T	0.16073	2.37	4.38	-3.89	0.04193	.	0.407996	0.27782	N	0.017861	T	0.07234	0.0183	N	0.13043	0.29	0.80722	D	1	B	0.12630	0.006	B	0.11329	0.006	T	0.43163	-0.9408	10	0.09590	T	0.72	-7.5296	11.5525	0.50729	0.6912:0.0:0.3088:0.0	.	297	Q13796	SHRM2_HUMAN	S	297	ENSP00000370299:N297S	ENSP00000370299:N297S	N	+	2	0	SHROOM2	9822838	.	.	0.005000	0.12908	0.659000	0.38960	.	.	-1.281000	0.02399	-0.314000	0.08810	AAT		0.612	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		17	65	0	0	0	0.007413	0	17	65					G	9862838	A	G	9862838	3	3	305	1	0	0	0	0	1	0	0	0	14294	101	4	3	904	3	SHROOM2	23	9862838	Missense_Mutation	SNP	A	TCGA-EM-A2OY-01A-11D-A202-08		9862838	145407722	17	6492											
PRPS1	5631	broad.mit.edu	37	chrX	106890921	106890921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatttctcgcatcaacaacGcatgctttgaggcagtagta	8	10	2	1			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chrX:106890921G>A	ENST00000372435.4	+	6	912	c.790G>A	c.(790-792)Gca>Aca	p.A264T	PRPS1_ENST00000372418.1_Missense_Mutation_p.A164T|PRPS1_ENST00000543248.1_Missense_Mutation_p.A264T|PRPS1_ENST00000372428.4_Missense_Mutation_p.A197T	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	264					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|hypoxanthine biosynthetic process (GO:0046101)|nervous system development (GO:0007399)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|pyrimidine nucleotide biosynthetic process (GO:0006221)|ribonucleoside monophosphate biosynthetic process (GO:0009156)|small molecule metabolic process (GO:0044281)|urate biosynthetic process (GO:0034418)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						CATCAACAACGCATGCTTTGA	0.453																																						ENST00000372435.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						c.(790-792)Gca>Aca		phosphoribosyl pyrophosphate synthetase 1							158	129	139					X																	106890921		2203	4300	6503	SO:0001583	missense	5631				5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chrX:106890921G>A	X15331	CCDS14529.1, CCDS76007.1	Xq22.3	2014-09-17			ENSG00000147224	ENSG00000147224	2.7.6.1		9462	protein-coding gene	gene with protein product	"PRS I", "ribose-phosphate diphosphokinase 1"	311850	"deafness, X-linked 2, perceptive, congenital"	DFN2		1962753, 20021999	Standard	NM_002764		Approved	CMTX5, DFNX1	uc004ene.4	P60891	OTTHUMG00000022167	ENST00000372435.4:c.790G>A	X.37:g.106890921G>A	ENSP00000361512:p.Ala264Thr					PRPS1_ENST00000372418.1_Missense_Mutation_p.A164T|PRPS1_ENST00000372428.4_Missense_Mutation_p.A197T|PRPS1_ENST00000543248.1_Missense_Mutation_p.A264T	p.A264T	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN			6	912	+			264					B1ALA8|B2R6T7|B4DNL6|D3DUX6|P09329	Missense_Mutation	SNP	ENST00000372435.4	37	c.790G>A	CCDS14529.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616749	0.66672	.	.	ENSG00000147224	ENST00000372435;ENST00000372428;ENST00000543248;ENST00000372418	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64	3.76	3.76	0.43208	.	0.000000	0.85682	D	0.000000	T	0.67674	0.2918	M	0.63428	1.95	0.58432	D	0.999992	B;B	0.19935	0.04;0.04	B;B	0.13407	0.009;0.009	T	0.70339	-0.4899	10	0.62326	D	0.03	.	14.6655	0.68904	0.0:0.0:1.0:0.0	.	264;264	Q53FW2;P60891	.;PRPS1_HUMAN	T	264;197;264;164	ENSP00000361512:A264T;ENSP00000361505:A197T;ENSP00000443185:A264T;ENSP00000361495:A164T	ENSP00000361495:A164T	A	+	1	0	PRPS1	106777577	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	9.067000	0.93955	2.118000	0.64928	0.600000	0.82982	GCA		0.453	PRPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057840.1			5	221	0	0	0	0.001168	0	5	221					A	106890921	G	A	106890921	3	1	305	1	0	0	0	0	1	0	0	0	12578	1087	38	1	812	1	PRPS1	23	106890921	Missense_Mutation	SNP	G	TCGA-EM-A2OY-01A-11D-A202-08	97028083	106890921	48379639	18	6493											
PRDM16	63976	broad.mit.edu	37	chr1	3328631	3328642	+	In_Frame_Del	DEL	GACCTGGACAGC	GACCTGGACAGC	-													cgaccacggggacgggctcgGacctggacagcgacgtggac							TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr1:3328631_3328642delGACCTGGACAGC	ENST00000270722.5	+	9	1919_1930	c.1870_1881delGACCTGGACAGC	c.(1870-1881)gacctggacagcdel	p.DLDS624del	PRDM16_ENST00000378391.2_In_Frame_Del_p.DLDS624del|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_In_Frame_Del_p.DLDS624del|PRDM16_ENST00000511072.1_In_Frame_Del_p.DLDS625del|PRDM16_ENST00000514189.1_In_Frame_Del_p.DLDS625del|PRDM16_ENST00000441472.2_In_Frame_Del_p.DLDS624del|PRDM16_ENST00000378398.3_In_Frame_Del_p.DLDS625del			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	624					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)	p.D624Y(1)|p.L625M(1)		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)		GACGGGCTCGGACCTGGACAGCGACGTGGACA	0.679			T	EVI1	"MDS, AML"																																	ENST00000378398.3				Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		"MDS, AML"		2	Substitution - Missense(2)	p.D624Y(1)|p.L625M(1)	large_intestine(1)|lung(1)	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.(1873-1884)del		PR domain containing 16																																				SO:0001651	inframe_deletion	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.chr1:3328631_3328642delGACCTGGACAGC	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.1870_1881delGACCTGGACAGC	1.37:g.3328631_3328642delGACCTGGACAGC	ENSP00000270722:p.Asp624_Ser627del					PRDM16_ENST00000441472.2_In_Frame_Del_p.DLDS624del|PRDM16_ENST00000442529.2_In_Frame_Del_p.DLDS624del|PRDM16_ENST00000378391.2_In_Frame_Del_p.DLDS624del|PRDM16_ENST00000270722.5_In_Frame_Del_p.DLDS624del|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000514189.1_In_Frame_Del_p.DLDS625del|PRDM16_ENST00000511072.1_In_Frame_Del_p.DLDS625del	p.DLDS625del			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	1955_1966	+	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)	624					A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	In_Frame_Del	DEL	ENST00000270722.5	37	c.1873_1884delGACCTGGACAGC	CCDS41236.2																																																																																				0.679	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		32	72						32	72	---	---	---	---	-	3328642	GACCTGGACAGC	-	3328631	7	5	306	1	0	1	0	1	0	0	0	0	12457	1174	41	0	1904	0	PRDM16	1	3328631	In_Frame_Del	DEL	GACCTGGACAGC	TCGA-EM-A2OZ-01A-11D-A202-08		3328631	245921990	1	6494											
RPTN	126638	broad.mit.edu	37	chr1	152128205	152128208	+	Frame_Shift_Del	DEL	TGTC	TGTC	-													catagtgggaactctggcctTgtctgtctgtctgaccatag							TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr1:152128205_152128208delTGTC	ENST00000316073.3	-	3	1431_1434	c.1367_1370delGACA	c.(1366-1371)agacaafs	p.RQ456fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	456	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.52																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1366-1371)aafs		repetin																																				SO:0001589	frameshift_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128205_152128208delTGTC	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1367_1370delGACA	1.37:g.152128213_152128216delTGTC	ENSP00000317895:p.Arg456fs						p.RQ456fs	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1431_1434	-			456			Gln-rich.		B7ZBZ3	Frame_Shift_Del	DEL	ENST00000316073.3	37	c.1367_1370delGACA	CCDS41397.1																																																																																				0.52	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		7	823						7	823	---	---	---	---	-	152128208	TGTC	-	152128205	7	5	306	1	0	1	0	1	0	0	0	0	13664	1812	63	0	988	0	RPTN	1	152128205	Frame_Shift_Del	DEL	TGTC	TCGA-EM-A2OZ-01A-11D-A202-08	148799574	152128205	97122416	2	6495											
MPV17	4358	broad.mit.edu	37	chr2	27535568	27535568	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgatccaacaacatcttcttCagtgcatccactttggtggt	7	11	3	1			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr2:27535568C>T	ENST00000380044.1	-	4	313	c.258G>A	c.(256-258)ctG>ctA	p.L86L	MPV17_ENST00000405983.1_Silent_p.L101L|MPV17_ENST00000233545.2_Silent_p.L86L|MPV17_ENST00000357186.6_Silent_p.L30L|MPV17_ENST00000405076.1_Intron|MPV17_ENST00000402722.1_Missense_Mutation_p.E75K|MPV17_ENST00000403262.2_Silent_p.L86L|MPV17_ENST00000402310.1_Silent_p.L86L	NM_002437.4	NP_002428.1	P39210	MPV17_HUMAN	MpV17 mitochondrial inner membrane protein	86					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)					ACATCTTCTTCAGTGCATCCA	0.527																																						ENST00000402722.1																			0				lung(4)	4						c.(223-225)Gaa>Aaa		MpV17 mitochondrial inner membrane protein							217	215	215					2																	27535568		2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:27535568C>T		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.258G>A	2.37:g.27535568C>T						MPV17_ENST00000402310.1_Silent_p.L86L|MPV17_ENST00000380044.1_Silent_p.L86L|MPV17_ENST00000405983.1_Silent_p.L101L|MPV17_ENST00000405076.1_Intron|MPV17_ENST00000403262.2_Silent_p.L86L|MPV17_ENST00000357186.6_Silent_p.L30L|MPV17_ENST00000233545.2_Silent_p.L86L	p.E75K			P39210	MPV17_HUMAN			4	257	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		0					D6W555|Q53SY2|Q96B08	Missense_Mutation	SNP	ENST00000380044.1	37	c.223G>A	CCDS1748.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.300081	0.40694	.	.	ENSG00000115204	ENST00000402722	T	0.80214	-1.35	5.58	-4.11	0.03928	.	.	.	.	.	T	0.81014	0.4735	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.77161	-0.2689	6	0.87932	D	0	.	8.3886	0.32516	0.0:0.7326:0.1669:0.1005	.	.	.	.	K	75	ENSP00000386000:E75K	ENSP00000386000:E75K	E	-	1	0	MPV17	27389072	0.005000	0.15991	0.441000	0.26858	0.768000	0.43524	-1.650000	0.01991	-1.359000	0.02174	-0.253000	0.11424	GAA		0.527	MPV17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214193.1	NM_002437		5	43	0	0	0	0.014758	0	5	43					T	27535568	C	T	27535568	2	4	306	1	0	0	0	0	0	0	0	1	9745	813	29	2		2	MPV17	2	27535568	Silent	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08		27535568	215663805	3	6496											
POU3F3	5455	broad.mit.edu	37	chr2	105472850	105472852	+	In_Frame_Del	DEL	CGG	CGG	-													gcgcagggacccccgcaccaCggcggcggcggcggcggcgc					rs550439793|rs577550493	byFrequency	TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr2:105472850_105472852delCGG	ENST00000361360.2	+	1	882_884	c.882_884delCGG	c.(880-885)cacggc>cac	p.G300del	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	300	Gly-rich.				central nervous system development (GO:0007417)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain ventricular zone progenitor cell division (GO:0021869)|metanephric ascending thin limb development (GO:0072218)|metanephric DCT cell differentiation (GO:0072240)|metanephric loop of Henle development (GO:0072236)|metanephric macula densa development (GO:0072227)|metanephric thick ascending limb development (GO:0072233)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCCCGCACCAcggcggcggcggc	0.749																																						ENST00000361360.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(880-885)cac>ca		POU class 3 homeobox 3				18,2126		3,12,1057						2.0	1.0			4	52,4812		3,46,2383	no	coding	POU3F3	NM_006236.1		6,58,3440	A1A1,A1R,RR		1.0691,0.8396,0.9989				70,6938				SO:0001651	inframe_deletion	5455				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding	g.chr2:105472850_105472852delCGG		CCDS33265.1	2q12.1	2011-06-20	2007-07-13		ENSG00000198914	ENSG00000198914		"Homeoboxes / POU class"	9216	protein-coding gene	gene with protein product		602480	"POU domain class 3, transcription factor 3"				Standard	NM_006236		Approved	BRN1, OTF8	uc010ywg.2	P20264	OTTHUMG00000153067	ENST00000361360.2:c.882_884delCGG	2.37:g.105472859_105472861delCGG	ENSP00000355001:p.Gly300del					RP11-13J10.1_ENST00000598623.1_RNA	p.HG294del	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN			1	882_884	+			294			Gly-rich.|His-rich.		P78379|Q4ZG25	In_Frame_Del	DEL	ENST00000361360.2	37	c.882_884delCGG	CCDS33265.1																																																																																				0.749	POU3F3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329335.2			2	4						2	4	---	---	---	---	-	105472852	CGG	-	105472850	7	5	306	1	0	1	0	1	0	0	0	0	12276	535	19	0	884	0	POU3F3	2	105472850	In_Frame_Del	DEL	CGG	TCGA-EM-A2OZ-01A-11D-A202-08	77937282	105472850	137726523	4	6497											
FAM117B	150864	broad.mit.edu	37	chr2	203620264	203620264	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catcccattttcttaaggctCctgttccaaagagtgcactt	6	12	1	1	rs564095694		TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr2:203620264C>T	ENST00000392238.2	+	5	964	c.964C>T	c.(964-966)Cct>Tct	p.P322S	FAM117B_ENST00000303116.6_Missense_Mutation_p.P78S			Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	322										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						TCTTAAGGCTCCTGTTCCAAA	0.398													C|||	1	0.000199681	0	0	5008	,	,		17832	0.001		0	False		,,,				2504	0					ENST00000303116.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						c.(232-234)Cct>Tct		family with sequence similarity 117, member B							171	162	165					2																	203620264		2203	4300	6503	SO:0001583	missense	150864							g.chr2:203620264C>T	AB053315	CCDS33362.1, CCDS33362.2	2q33	2008-08-18	2008-08-18	2008-08-18	ENSG00000138439	ENSG00000138439			14440	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 13"	ALS2CR13		11586298	Standard	NM_173511		Approved	FLJ38771	uc010zhx.2	Q6P1L5	OTTHUMG00000154550	ENST00000392238.2:c.964C>T	2.37:g.203620264C>T	ENSP00000376071:p.Pro322Ser					FAM117B_ENST00000392238.2_Missense_Mutation_p.P322S	p.P78S	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN			5	974	+			322			Gly-rich.		Q53QZ5|Q585T9|Q8N8W1|Q96Q34	Missense_Mutation	SNP	ENST00000392238.2	37	c.232C>T	CCDS33362.2	.	.	.	.	.	.	.	.	.	.	C	10.66	1.412136	0.25465	.	.	ENSG00000138439	ENST00000303116;ENST00000392238	.	.	.	5.13	5.13	0.70059	.	0.048849	0.85682	D	0.000000	T	0.34483	0.0899	N	0.12502	0.225	0.44214	D	0.997045	B	0.19583	0.037	B	0.22601	0.04	T	0.21552	-1.0242	9	0.02654	T	1	-5.144	12.3386	0.55081	0.0:0.9223:0.0:0.0777	.	322	Q6P1L5	F117B_HUMAN	S	78;322	.	ENSP00000306299:P78S	P	+	1	0	FAM117B	203328509	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.729000	0.47327	2.554000	0.86153	0.655000	0.94253	CCT		0.398	FAM117B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335888.3	NM_173511		9	132	0	0	0	0.013537	0	9	132					T	203620264	C	T	203620264	3	4	306	1	0	0	0	0	1	0	0	0	5410	855	30	2	982	2	FAM117B	2	203620264	Missense_Mutation	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08	98147414	203620264	39579109	5	6498											
ABCA12	26154	broad.mit.edu	37	chr2	215819926	215819926	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgaaataagggaccttacCggatcattaggcttttcctt	8	9	1	1	rs200758693		TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr2:215819926C>T	ENST00000272895.7	-	43	6612	c.6393G>A	c.(6391-6393)ccG>ccA	p.P2131P	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Splice_Site_p.P1813P	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2131					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GGGACCTTACCGGATCATTAG	0.338													C|||	1	0.000199681	0	0	5008	,	,		19484	0		0.001	False		,,,				2504	0				Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.e43+1		ATP-binding cassette, sub-family A (ABC1), member 12		C	,	0,4406		0,0,2203	61	58	59		5439,6393	3.2	1.0	2		59	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice,coding-synonymous-near-splice	ABCA12	NM_015657.3,NM_173076.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	1813/2278,2131/2596	215819926	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215819926C>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.6393+1G>A	2.37:g.215819926C>T						AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Splice_Site_p.P1813_splice	p.P2131_splice	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	43	6612	-		Renal(323;0.127)	2131					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Splice_Site	SNP	ENST00000272895.7	37	c.6393_splice	CCDS33372.1																																																																																				0.338	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	Silent	13	28	0	0	0	0.00499	0	13	28					T	215819926	C	T	215819926	5	4	306	1	0	0	0	0	0	0	1	0	30	666	23	1	1438	1	ABCA12	2	215819926	Splice_Site	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08	12199662	215819926	27379447	6	6499											
GPC1	2817	broad.mit.edu	37	chr2	241402796	241402796	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccggagtgctcgagagctgtCatgaagctggtctactgtgc	14	10	2	2			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr2:241402796C>G	ENST00000264039.2	+	4	998	c.750C>G	c.(748-750)gtC>gtG	p.V250V		NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	250					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|myelin assembly (GO:0032288)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|phototransduction, visible light (GO:0007603)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|retinoid metabolic process (GO:0001523)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|fibroblast growth factor binding (GO:0017134)|laminin binding (GO:0043236)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		CGAGAGCTGTCATGAAGCTGG	0.682																																						ENST00000264039.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9						c.(748-750)gtC>gtG		glypican 1							88	93	92					2																	241402796		2203	4300	6503	SO:0001819	synonymous_variant	2817				axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr2:241402796C>G	AK095397	CCDS2534.1	2q35-q37	2008-02-05			ENSG00000063660	ENSG00000063660		"Proteoglycans / Cell Surface : Glypicans"	4449	protein-coding gene	gene with protein product	"glypican proteoglycan 1"	600395				7774946	Standard	NM_002081		Approved	glypican	uc002vyw.4	P35052	OTTHUMG00000133349	ENST00000264039.2:c.750C>G	2.37:g.241402796C>G							p.V250V	NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)	4	998	+		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	250					B3KTD1|Q53QM4	Silent	SNP	ENST00000264039.2	37	c.750C>G	CCDS2534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.814|8.814	0.935910|0.935910	0.18206|0.18206	.|.	.|.	ENSG00000063660|ENSG00000063660	ENST00000420138|ENST00000425056	.|.	.|.	.|.	3.88|3.88	3.88|3.88	0.44766|0.44766	.|.	.|.	.|.	.|.	.|.	T|.	0.68439|.	0.3001|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.67883|.	-0.5555|.	4|.	.|.	.|.	.|.	-42.0036|-42.0036	13.7026|13.7026	0.62618|0.62618	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	D|X	290|246	.|.	.|.	H|S	+|+	1|2	0|0	GPC1|GPC1	241051469|241051469	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.746000|0.746000	0.42486|0.42486	1.307000|1.307000	0.33516|0.33516	2.176000|2.176000	0.68965|0.68965	0.484000|0.484000	0.47621|0.47621	CAT|TCA		0.682	GPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257179.3	NM_002081		9	78	0	0	0	0.008291	0	9	78					G	241402796	C	G	241402796	2	3	306	1	0	0	0	0	0	0	0	1	6597	813	29	4		4	GPC1	2	241402796	Silent	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08	25582870	241402796	1796577	7	6500											
ABHD6	57406	broad.mit.edu	37	chr3	58260481	58260481	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcccttgatcccgtctacccCagaagagatgagtgaaatgc	9	12	1	5	rs367601823		TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr3:58260481C>G	ENST00000478253.1	+	7	1121	c.620C>G	c.(619-621)cCa>cGa	p.P207R	ABHD6_ENST00000295962.4_Missense_Mutation_p.P207R			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	207					long term synaptic depression (GO:0060292)|negative regulation of cell migration (GO:0030336)|regulation of endocannabinoid signaling pathway (GO:2000124)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acylglycerol lipase activity (GO:0047372)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		CCGTCTACCCCAGAAGAGATG	0.542																																						ENST00000478253.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16						c.(619-621)cCa>cGa		abhydrolase domain containing 6							139	135	137					3																	58260481		2203	4300	6503	SO:0001583	missense	57406					integral to membrane	acylglycerol lipase activity	g.chr3:58260481C>G	AF225418	CCDS2887.1	3p21.2	2006-03-10			ENSG00000163686	ENSG00000163686		"Abhydrolase domain containing"	21398	protein-coding gene	gene with protein product							Standard	NM_020676		Approved		uc003djs.4	Q9BV23	OTTHUMG00000159150	ENST00000478253.1:c.620C>G	3.37:g.58260481C>G	ENSP00000420315:p.Pro207Arg					ABHD6_ENST00000295962.4_Missense_Mutation_p.P207R	p.P207R			Q9BV23	ABHD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)	7	1121	+			207					B2R7Y9|Q6ZMF7	Missense_Mutation	SNP	ENST00000478253.1	37	c.620C>G	CCDS2887.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060419	0.76074	.	.	ENSG00000163686	ENST00000478253;ENST00000295962;ENST00000511761;ENST00000463756	T;T;D	0.82526	-0.25;-0.25;-1.62	5.88	4.99	0.66335	.	0.262331	0.44097	D	0.000497	T	0.81288	0.4791	L	0.34521	1.04	0.37007	D	0.895558	P;P	0.51147	0.942;0.928	P;P	0.52159	0.691;0.543	T	0.79981	-0.1574	10	0.15499	T	0.54	-21.9342	15.952	0.79846	0.1361:0.8639:0.0:0.0	.	207;207	Q9BV23;F5H7L1	ABHD6_HUMAN;.	R	207	ENSP00000420315:P207R;ENSP00000295962:P207R;ENSP00000420408:P207R	ENSP00000295962:P207R	P	+	2	0	ABHD6	58235521	0.906000	0.30813	0.833000	0.33012	0.988000	0.76386	4.505000	0.60421	1.443000	0.47586	0.655000	0.94253	CCA		0.542	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353511.1	NM_020676		10	104	0	0	0	0.006214	0	10	104					G	58260481	C	G	58260481	3	3	306	1	0	0	0	0	1	0	0	0	86	594	21	4	638	4	ABHD6	3	58260481	Missense_Mutation	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08		58260481	139761949	8	6501											
CHST2	9435	broad.mit.edu	37	chr3	142840198	142840198	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgctctggctcgtcgttcttCggcgagctattcaaccagaa	10	13	3	1			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr3:142840198C>T	ENST00000309575.3	+	2	1924	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	180					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						CGTCGTTCTTCGGCGAGCTAT	0.622																																						ENST00000309575.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						c.(538-540)ttC>ttT		carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2							38	47	44					3																	142840198		2203	4300	6503	SO:0001819	synonymous_variant	9435				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr3:142840198C>T	BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"Sulfotransferases, membrane-bound"	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.540C>T	3.37:g.142840198C>T							p.F180F	NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN			2	1924	+			180					D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Silent	SNP	ENST00000309575.3	37	c.540C>T	CCDS3129.1																																																																																				0.622	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267		5	56	0	0	0	0.014758	0	5	56					T	142840198	C	T	142840198	2	4	306	1	0	0	0	0	0	0	0	1	3404	883	31	1		1	CHST2	3	142840198	Silent	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08	84579717	142840198	55182232	9	6502											
IL12A	3592	broad.mit.edu	37	chr3	159713292	159713292	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcatacttcttcatgctttCagaattcgggcagtgactat	8	9	3	2			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr3:159713292C>T	ENST00000305579.2	+	7	1015	c.708C>T	c.(706-708)ttC>ttT	p.F236F	IL12A_ENST00000480787.1_Silent_p.F198F|IL12A-AS1_ENST00000462431.1_RNA|IL12A_ENST00000466512.1_Silent_p.F222F|IL12A-AS1_ENST00000497452.1_RNA	NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	interleukin 12A	202					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|defense response to Gram-positive bacterium (GO:0050830)|defense response to protozoan (GO:0042832)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cell adhesion (GO:0045785)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|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)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|response to lipopolysaccharide (GO:0032496)|response to UV-B (GO:0010224)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)	interleukin-12 beta subunit binding (GO:0042163)|interleukin-12 receptor binding (GO:0005143)|interleukin-27 binding (GO:0045513)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTCATGCTTTCAGAATTCGGG	0.388																																						ENST00000305579.2																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9						c.(706-708)ttC>ttT		interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)							119	120	119					3																	159713292		2203	4300	6503	SO:0001819	synonymous_variant	3592				cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of NK T cell activation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of tyrosine phosphorylation of Stat4 protein|response to lipopolysaccharide|response to UV-B|response to virus	interleukin-12 complex	cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity	g.chr3:159713292C>T	M65271	CCDS3187.1	3q25.33	2014-04-04	2014-04-04		ENSG00000168811	ENSG00000168811		"Interleukins and interleukin receptors"	5969	protein-coding gene	gene with protein product	"natural killer cell stimulatory factor 1, 35 kD subunit", "cytotoxic lymphocyte maturation factor 1, p35", "interleukin 12, p35", "IL-12, subunit p35", "NF cell stimulatory factor chain 1", "interleukin-12 alpha chain", "IL35 subunit"	161560	"interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)"	NKSF1		1673147	Standard	NM_000882		Approved	CLMF, IL-12A, p35, NFSK	uc003fcx.3	P29459	OTTHUMG00000158942	ENST00000305579.2:c.708C>T	3.37:g.159713292C>T						CTD-2049J23.2_ENST00000497452.1_RNA|IL12A_ENST00000466512.1_Silent_p.F222F|IL12A_ENST00000480787.1_Silent_p.F198F	p.F236F	NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		7	1015	+			202					Q96QZ1	Silent	SNP	ENST00000305579.2	37	c.708C>T	CCDS3187.1																																																																																				0.388	IL12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352602.2	NM_000882		8	97	0	0	0	0.004482	0	8	97					T	159713292	C	T	159713292	2	4	306	1	0	0	0	0	0	0	0	1	7624	825	29	2		2	IL12A	3	159713292	Silent	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08	16873094	159713292	38309138	10	6503											
FNIP2	57600	broad.mit.edu	37	chr4	159789776	159789776	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggcaccgcaagatggctcttCaagacttcccagctgtgaag	11	12	2	3			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr4:159789776C>G	ENST00000264433.6	+	13	2063	c.1988C>G	c.(1987-1989)tCa>tGa	p.S663*	FNIP2_ENST00000379346.3_Nonsense_Mutation_p.S686*	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	663	Interaction with PRKAA1.				intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GATGGCTCTTCAAGACTTCCC	0.522																																						ENST00000264433.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(1987-1989)tCa>tGa		folliculin interacting protein 2							32	37	35					4																	159789776		1930	4136	6066	SO:0001587	stop_gained	57600				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	g.chr4:159789776C>G	AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"O6-methylguanine-induced apoptosis 1"	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.1988C>G	4.37:g.159789776C>G	ENSP00000264433:p.Ser663*					FNIP2_ENST00000379346.3_Nonsense_Mutation_p.S686*	p.S663*	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN		COAD - Colon adenocarcinoma(41;0.00936)	13	2063	+	all_hematologic(180;0.24)		663			Interaction with PRKAA1.		Q05DC3|Q96I31|Q9H994	Nonsense_Mutation	SNP	ENST00000264433.6	37	c.1988C>G	CCDS47155.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432851	0.62844	.	.	ENSG00000052795	ENST00000264433;ENST00000379346	.	.	.	5.54	2.03	0.26663	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.8409	0.05528	0.164:0.5308:0.1128:0.1924	.	.	.	.	X	663;686	.	.	S	+	2	0	FNIP2	160009226	0.000000	0.05858	0.007000	0.13788	0.029000	0.11900	0.068000	0.14531	0.579000	0.29504	0.655000	0.94253	TCA		0.522	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840		4	19	0	0	0	0.009096	0	4	19					G	159789776	C	G	159789776	4	3	306	1	0	0	0	0	0	1	0	0	5976	838	29	4	2038	4	FNIP2	4	159789776	Nonsense_Mutation	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08		159789776	31364500	11	6504											
C5orf42	65250	broad.mit.edu	37	chr5	37173962	37173962	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggtcttctgaggtgttggAgcaggtggttgtgaagcaac	17	5	2	2			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr5:37173962A>C	ENST00000508244.1	-	31	6159	c.6066T>G	c.(6064-6066)gcT>gcG	p.A2022A	C5orf42_ENST00000425232.2_Silent_p.A2022A|C5orf42_ENST00000274258.7_Silent_p.A902A			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2022						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GAGGTGTTGGAGCAGGTGGTT	0.423																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(2704-2706)gcT>gcG		chromosome 5 open reading frame 42							145	138	141					5																	37173962		2203	4300	6503	SO:0001819	synonymous_variant	65250							g.chr5:37173962A>C		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.6066T>G	5.37:g.37173962A>C						C5orf42_ENST00000425232.2_Silent_p.A2022A|C5orf42_ENST00000508244.1_Silent_p.A2022A	p.A902A			E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		32	6293	-	all_lung(31;0.000616)		2022					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Silent	SNP	ENST00000508244.1	37	c.2706T>G	CCDS34146.2																																																																																				0.423	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		10	61	0	0	0	0.010729	0	10	61					C	37173962	A	C	37173962	2	2	306	1	0	0	0	0	0	0	0	1	2301	291	11	5		5	C5orf42	5	37173962	Silent	SNP	A	TCGA-EM-A2OZ-01A-11D-A202-08		37173962	143741298	12	6505											
ARAP3	64411	broad.mit.edu	37	chr5	141039378	141039378	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gatgtagccatcaatgagctCttgcagcactcgcacctcgt	9	13	2	1			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr5:141039378C>G	ENST00000239440.4	-	22	3300	c.3235G>C	c.(3235-3237)Gag>Cag	p.E1079Q	ARAP3_ENST00000513878.1_Missense_Mutation_p.E741Q|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Missense_Mutation_p.E910Q	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1079	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TCAATGAGCTCTTGCAGCACT	0.567																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(3235-3237)Gag>Cag		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							72	66	68					5																	141039378		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141039378C>G	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.3235G>C	5.37:g.141039378C>G	ENSP00000239440:p.Glu1079Gln					ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000513878.1_Missense_Mutation_p.E741Q|ARAP3_ENST00000508305.1_Missense_Mutation_p.E910Q	p.E1079Q	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			22	3300	-			1079			Rho-GAP.		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.3235G>C	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727347	0.89390	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.11169	2.8;2.8;2.8	5.19	5.19	0.71726	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.060418	0.64402	D	0.000008	T	0.15392	0.0371	N	0.14661	0.345	0.52501	D	0.999958	D;D;D	0.63880	0.979;0.981;0.993	P;P;P	0.55508	0.601;0.73;0.777	T	0.04870	-1.0921	10	0.72032	D	0.01	.	18.5136	0.90926	0.0:1.0:0.0:0.0	.	741;910;1079	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	Q	910;1079;741	ENSP00000421826:E910Q;ENSP00000239440:E1079Q;ENSP00000421468:E741Q	ENSP00000239440:E1079Q	E	-	1	0	ARAP3	141019562	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	7.226000	0.78060	2.711000	0.92665	0.655000	0.94253	GAG		0.567	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		3	19	0	0	0	0.009096	0	3	19					G	141039378	C	G	141039378	3	3	306	1	0	0	0	0	1	0	0	0	840	922	32	4	1447	4	ARAP3	5	141039378	Missense_Mutation	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08	103865416	141039378	39875882	13	6506											
SYNPO	11346	broad.mit.edu	37	chr5	150036179	150036179	+	IGR	DEL	C	C	-													gacctgagaccgaggcgcggCcccccagccgccagctgcag							TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr5:150036179delC	ENST00000394243.1	+	0	7063				SYNPO_ENST00000307662.4_Frame_Shift_Del_p.P749fs	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin						positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGAGGCGCGGCCCCCCAGCCG	0.756																																						ENST00000307662.4																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18						c.(2242-2244)ccfs		synaptopodin							1	2	2					5																	150036179		1272	2886	4158	SO:0001628	intergenic_variant	11346				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding	g.chr5:150036179delC	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078		5.37:g.150036179delC							p.P749fs	NM_007286.5	NP_009217.3	Q8N3V7	SYNPO_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	2771	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	808					A5PKZ8|D3DQG8|O15271|Q9UPX1	Frame_Shift_Del	DEL	ENST00000394243.1	37	c.2242delC	CCDS54937.1																																																																																				0.756	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286		2	4						2	4	---	---	---	---	-	150036179	C	-	150036179	6	5	306	0	1	1	0	1	0	0	0	0	15453	739	26	0		0	SYNPO	5	150036179	IGR	DEL	C	TCGA-EM-A2OZ-01A-11D-A202-08	8996801	150036179	30879081	14	6507											
NPC1L1	29881	broad.mit.edu	37	chr7	44575963	44575963	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgggccagacgggggtcCccggcagggtaattgttgag	18	10	0	2			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr7:44575963C>T	ENST00000289547.4	-	4	1801	c.1746G>A	c.(1744-1746)ggG>ggA	p.G582G	NPC1L1_ENST00000546276.1_Silent_p.G582G|NPC1L1_ENST00000423141.1_Silent_p.G582G|NPC1L1_ENST00000381160.3_Silent_p.G582G	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	582					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GACGGGGGTCCCCGGCAGGGT	0.572																																						ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(1744-1746)ggG>ggA		NPC1-like 1	Ezetimibe(DB00973)						67	72	70					7																	44575963		2203	4300	6503	SO:0001819	synonymous_variant	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44575963C>T		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.1746G>A	7.37:g.44575963C>T						NPC1L1_ENST00000381160.3_Silent_p.G582G|NPC1L1_ENST00000423141.1_Silent_p.G582G|NPC1L1_ENST00000546276.1_Silent_p.G582G	p.G582G	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			4	1801	-			582					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	ENST00000289547.4	37	c.1746G>A	CCDS5491.1																																																																																				0.572	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		5	59	0	0	0	0.014758	0	5	59					T	44575963	C	T	44575963	2	4	306	1	0	0	0	0	0	0	0	1	10571	610	22	2		2	NPC1L1	7	44575963	Silent	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08		44575963	114562700	15	6508											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		23	56	0	0	0	0.004656	0	23	56					T	140453136	A	T	140453136	3	4	306	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A2OZ-01A-11D-A202-08	95877173	140453136	18685527	16	6509											
COL15A1	1306	broad.mit.edu	37	chr9	101749591	101749591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagggctccctccagcagCtcaccgtgcaccccgacccc	8	23	1	0			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr9:101749591C>T	ENST00000375001.3	+	4	1087	c.664C>T	c.(664-666)Ctc>Ttc	p.L222F		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	222	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCTCCAGCAGCTCACCGTGCA	0.597																																						ENST00000375001.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(664-666)Ctc>Ttc		collagen, type XV, alpha 1							173	161	165					9																	101749591		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101749591C>T	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.664C>T	9.37:g.101749591C>T	ENSP00000364140:p.Leu222Phe						p.L222F	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN			4	1087	+		Acute lymphoblastic leukemia(62;0.0562)	222			TSP N-terminal.		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.664C>T	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.928872	0.52759	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	T	0.15952	2.38	5.11	3.96	0.45880	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.64402	D	0.000002	T	0.39937	0.1097	M	0.85859	2.78	0.41986	D	0.99082	D	0.89917	1.0	D	0.97110	1.0	T	0.25467	-1.0131	10	0.49607	T	0.09	-16.1305	6.4525	0.21912	0.0:0.8391:0.0:0.1609	.	222	P39059	COFA1_HUMAN	F	222;192	ENSP00000364140:L222F	ENSP00000364140:L222F	L	+	1	0	COL15A1	100789412	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	3.245000	0.51407	2.524000	0.85096	0.655000	0.94253	CTC		0.597	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		75	138	0	0	0	0.01441	0	75	138					T	101749591	C	T	101749591	3	4	306	1	0	0	0	0	1	0	0	0	3672	797	28	2	678	2	COL15A1	9	101749591	Missense_Mutation	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08		101749591	39463840	17	6510											
DLG5	9231	broad.mit.edu	37	chr10	79593779	79593779	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcacggtcccgctcccgcctCaggttgtcacacagtgtcct	10	17	2	0			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr10:79593779C>G	ENST00000372391.2	-	9	1646	c.1641G>C	c.(1639-1641)ctG>ctC	p.L547L	DLG5_ENST00000372388.2_Silent_p.L547L	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	547					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GCTCCCGCCTCAGGTTGTCAC	0.632																																						ENST00000372391.2																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(1639-1641)ctG>ctC		discs, large homolog 5 (Drosophila)							38	33	35					10																	79593779		2202	4300	6502	SO:0001819	synonymous_variant	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79593779C>G	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.1641G>C	10.37:g.79593779C>G						DLG5_ENST00000372388.2_Silent_p.L547L	p.L547L	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		9	1646	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		547					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	ENST00000372391.2	37	c.1641G>C	CCDS7353.2																																																																																				0.632	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			3	22	0	0	0	0.009096	0	3	22					G	79593779	C	G	79593779	2	3	306	1	0	0	0	0	0	0	0	1	4558	813	29	4		4	DLG5	10	79593779	Silent	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08		79593779	55940968	18	6511											
MGMT	4255	broad.mit.edu	37	chr10	131506231	131506231	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgcagtgcacagcctggctGaatgcctatttccaccagcc	9	14	0	1			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr10:131506231G>A	ENST00000306010.7	+	3	323	c.291G>A	c.(289-291)ctG>ctA	p.L97L	MGMT_ENST00000462672.1_3'UTR	NM_002412.3	NP_002403.2	P16455	MGMT_HUMAN	O-6-methylguanine-DNA methyltransferase	66					cellular response to ionizing radiation (GO:0071479)|cellular response to organic cyclic compound (GO:0071407)|cellular response to oxidative stress (GO:0034599)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA ligation (GO:0006266)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to toxic substance (GO:0009636)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methylated-DNA-[protein]-cysteine S-methyltransferase activity (GO:0003908)|methyltransferase activity (GO:0008168)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)	L-Cysteine(DB00151)	CAGCCTGGCTGAATGCCTATT	0.602								Direct reversal of damage																														ENST00000306010.7																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(289-291)ctG>ctA	Direct reversal of damage	O-6-methylguanine-DNA methyltransferase							97	98	97					10																	131506231		2203	4300	6503	SO:0001819	synonymous_variant	4255							g.chr10:131506231G>A	M29971	CCDS7660.2	10q26	2005-10-06			ENSG00000170430	ENSG00000170430			7059	protein-coding gene	gene with protein product		156569					Standard	NM_002412		Approved		uc001lkh.2	P16455	OTTHUMG00000019261	ENST00000306010.7:c.291G>A	10.37:g.131506231G>A						MGMT_ENST00000462672.1_3'UTR	p.L97L	NM_002412.3	NP_002403.2	B4DEE8	B4DEE8_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00291)	3	323	+		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)	97					Q5VY78	Silent	SNP	ENST00000306010.7	37	c.291G>A	CCDS7660.2																																																																																				0.602	MGMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051009.3	NM_002412		7	64	0	0	0	0.004482	0	7	64					A	131506231	G	A	131506231	2	1	306	1	0	0	0	0	0	0	0	1	9557	1277	45	2		2	MGMT	10	131506231	Silent	SNP	G	TCGA-EM-A2OZ-01A-11D-A202-08	51912452	131506231	4028516	19	6512											
FRY	10129	broad.mit.edu	37	chr13	32747677	32747677	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgttgtttattgccctgggGcagcctgaggtatggattag	15	7	0	1			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr13:32747677G>A	ENST00000380250.3	+	19	2821	c.2325G>A	c.(2323-2325)ggG>ggA	p.G775G		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	775						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TTGCCCTGGGGCAGCCTGAGG	0.383																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(2323-2325)ggG>ggA		furry homolog (Drosophila)							130	125	126					13																	32747677		1874	4103	5977	SO:0001819	synonymous_variant	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32747677G>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.2325G>A	13.37:g.32747677G>A							p.G775G	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	19	2821	+		Lung SC(185;0.0271)	775					Q9Y3N6	Silent	SNP	ENST00000380250.3	37	c.2325G>A	CCDS41875.1																																																																																				0.383	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		7	80	0	0	0	0.004482	0	7	80					A	32747677	G	A	32747677	2	1	306	1	0	0	0	0	0	0	0	1	6063	1190	42	2		2	FRY	13	32747677	Silent	SNP	G	TCGA-EM-A2OZ-01A-11D-A202-08		32747677	82422201	20	6513											
AHNAK2	113146	broad.mit.edu	37	chr14	105418953	105418953	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acttccgccttggggcctttCaggtccagcttggggccctt	12	14	1	0	rs538798371		TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr14:105418953C>G	ENST00000333244.5	-	7	2954	c.2835G>C	c.(2833-2835)ctG>ctC	p.L945L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	945						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)		p.L945L(1)		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)			TGGGGCCTTTCAGGTCCAGCT	0.602																																						ENST00000333244.5																			1	Substitution - coding silent(1)	p.L945L(1)	lung(1)	cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(2833-2835)ctG>ctC		AHNAK nucleoprotein 2							137	159	152					14																	105418953		1873	4097	5970	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105418953C>G	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.2835G>C	14.37:g.105418953C>G						AHNAK2_ENST00000557457.1_Intron	p.L945L	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	2954	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	945					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.2835G>C	CCDS45177.1																																																																																				0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		22	186	0	0	0	0.01892	0	22	186					G	105418953	C	G	105418953	2	3	306	1	0	0	0	0	0	0	0	1	415	813	29	4		4	AHNAK2	14	105418953	Silent	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08		105418953	1930587	21	6514											
SCG3	29106	broad.mit.edu	37	chr15	51984517	51984517	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccaaatttctatgcgctactGaaaagtattgattcaggtaa	7	7	2	2			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr15:51984517G>A	ENST00000220478.3	+	7	1255	c.852G>A	c.(850-852)ctG>ctA	p.L284L	RP11-313P18.2_ENST00000559918.1_lincRNA|SCG3_ENST00000542355.2_Silent_p.L52L	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	284					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		ATGCGCTACTGAAAAGTATTG	0.383																																						ENST00000220478.3																			0				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(850-852)ctG>ctA		secretogranin III							87	90	89					15																	51984517		2195	4293	6488	SO:0001819	synonymous_variant	29106				platelet activation|platelet degranulation	extracellular region|stored secretory granule		g.chr15:51984517G>A	AF078851	CCDS10142.1, CCDS53947.1	15q21.2	2013-09-23			ENSG00000104112	ENSG00000104112			13707	protein-coding gene	gene with protein product		611796				2053134, 8825061	Standard	NM_013243		Approved	SGIII, FLJ90833	uc002abh.3	Q8WXD2	OTTHUMG00000131748	ENST00000220478.3:c.852G>A	15.37:g.51984517G>A						SCG3_ENST00000542355.2_Silent_p.L52L	p.L284L	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN		all cancers(107;0.00488)	7	1255	+			284					A8K2B0|B3KQP6|B4DK99|F5H3R8|Q96C83|Q96GE8|Q9Y6G7	Silent	SNP	ENST00000220478.3	37	c.852G>A	CCDS10142.1																																																																																				0.383	SCG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254670.2	NM_013243		7	76	0	0	0	0.004482	0	7	76					A	51984517	G	A	51984517	2	1	306	1	0	0	0	0	0	0	0	1	13892	1277	45	2		2	SCG3	15	51984517	Silent	SNP	G	TCGA-EM-A2OZ-01A-11D-A202-08		51984517	50546875	22	6515											
RHOT2	89941	broad.mit.edu	37	chr16	720708	720708	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgcccaggcgctgacgcgcAtcttcaggctctcagatcag	12	15	4	2			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr16:720708A>G	ENST00000315082.4	+	9	688	c.574A>G	c.(574-576)Atc>Gtc	p.I192V	RHOT2_ENST00000569943.2_Intron	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	192	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				GCTGACGCGCATCTTCAGGCT	0.682																																						ENST00000315082.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13						c.(574-576)Atc>Gtc		ras homolog family member T2							59	70	66					16																	720708		2201	4295	6496	SO:0001583	missense	89941				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr16:720708A>G	BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"EF-hand domain containing"	21169	protein-coding gene	gene with protein product	"mitochondrial Rho (MIRO) GTPase 2"	613889	"chromosome 16 open reading frame 39", "ras homolog gene family, member T2"	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.574A>G	16.37:g.720708A>G	ENSP00000321971:p.Ile192Val					RHOT2_ENST00000569943.2_Intron	p.I192V	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN			9	688	+		Hepatocellular(780;0.0218)	192			EF-hand 1.		A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Missense_Mutation	SNP	ENST00000315082.4	37	c.574A>G	CCDS10417.1	.	.	.	.	.	.	.	.	.	.	A	12.47	1.947963	0.34377	.	.	ENSG00000140983	ENST00000315082	T	0.09723	2.95	4.81	3.72	0.42706	EF-hand-like domain (1);	0.045120	0.85682	N	0.000000	T	0.18759	0.0450	L	0.55017	1.72	0.50632	D	0.999883	P;P	0.46327	0.854;0.876	P;P	0.53593	0.73;0.463	T	0.00710	-1.1599	10	0.40728	T	0.16	-35.4721	9.4788	0.38889	0.9157:0.0:0.0843:0.0	.	65;192	Q8IXI1-2;Q8IXI1	.;MIRO2_HUMAN	V	192	ENSP00000321971:I192V	ENSP00000321971:I192V	I	+	1	0	RHOT2	660709	1.000000	0.71417	0.873000	0.34254	0.156000	0.22039	6.661000	0.74422	0.802000	0.34089	0.459000	0.35465	ATC		0.682	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	NM_138769		9	91	0	0	0	0.010729	0	9	91					G	720708	A	G	720708	3	3	306	1	0	0	0	0	1	0	0	0	13344	217	8	3	608	3	RHOT2	16	720708	Missense_Mutation	SNP	A	TCGA-EM-A2OZ-01A-11D-A202-08		720708	89634045	23	6516											
UQCRC2	7385	broad.mit.edu	37	chr16	21974204	21974204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctttcagaatccgcagaCtcgtaagtacatttccagat	8	11	1	3	rs202168192		TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr16:21974204C>T	ENST00000268379.4	+	6	1276	c.512C>T	c.(511-513)aCt>aTt	p.T171I	UQCRC2_ENST00000561553.1_Missense_Mutation_p.T171I	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	171					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		AATCCGCAGACTCGTAAGTAC	0.373													C|||	1	0.000199681	8e-04	0	5008	,	,		17321	0		0	False		,,,				2504	0				Colon(123;450 1645 12841 25393 45623)	ENST00000268379.4																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						c.(511-513)aCt>aTt		ubiquinol-cytochrome c reductase core protein II							67	61	63					16																	21974204		2198	4300	6498	SO:0001583	missense	7385				aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding	g.chr16:21974204C>T	J04973	CCDS10601.1	16p12	2011-07-04			ENSG00000140740	ENSG00000140740	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	12586	protein-coding gene	gene with protein product		191329				8288258, 2547763	Standard	NM_003366		Approved	QCR2, UQCR2	uc002djx.3	P22695	OTTHUMG00000131585	ENST00000268379.4:c.512C>T	16.37:g.21974204C>T	ENSP00000268379:p.Thr171Ile					UQCRC2_ENST00000561553.1_Missense_Mutation_p.T171I	p.T171I	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN		GBM - Glioblastoma multiforme(48;0.0264)	6	1276	+			171					B3KSN4|Q9BQ05	Missense_Mutation	SNP	ENST00000268379.4	37	c.512C>T	CCDS10601.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	6.864	0.528716	0.13127	.	.	ENSG00000140740	ENST00000268379	T	0.17370	2.28	4.88	4.88	0.63580	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.448650	0.25674	N	0.029058	T	0.08891	0.0220	N	0.10782	0.045	0.29738	N	0.837354	B	0.02656	0.0	B	0.06405	0.002	T	0.05084	-1.0907	10	0.45353	T	0.12	-4.9955	7.9365	0.29933	0.0:0.8236:0.0:0.1764	.	171	P22695	QCR2_HUMAN	I	171	ENSP00000268379:T171I	ENSP00000268379:T171I	T	+	2	0	UQCRC2	21881705	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	3.612000	0.54142	2.411000	0.81874	0.563000	0.77884	ACT		0.373	UQCRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254466.1	NM_003366		11	43	0	0	0	0.010729	0	11	43					T	21974204	C	T	21974204	3	4	306	1	0	0	0	0	1	0	0	0	17017	565	20	2	534	2	UQCRC2	16	21974204	Missense_Mutation	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08	21253496	21974204	68380549	24	6517											
STX1B	112755	broad.mit.edu	37	chr16	31012260	31012260	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	actcctcacctttcaatttgGaccgaaccttgttggccgtc	7	14	2	0			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr16:31012260G>C	ENST00000215095.5	-	4	500	c.269C>G	c.(268-270)tCc>tGc	p.S90C	STX1B_ENST00000565419.1_Missense_Mutation_p.S90C	NM_052874.3	NP_443106.1	P61266	STX1B_HUMAN	syntaxin 1B	90					intracellular protein transport (GO:0006886)|neurotransmitter transport (GO:0006836)|regulation of exocytosis (GO:0017157)|regulation of gene expression (GO:0010468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						TTTCAATTTGGACCGAACCTT	0.562																																						ENST00000215095.5																			0				breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						c.(268-270)tCc>tGc		syntaxin 1B							167	136	147					16																	31012260		2197	4300	6497	SO:0001583	missense	112755				intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	extracellular-glutamate-gated ion channel activity|SNAP receptor activity	g.chr16:31012260G>C	AY028792	CCDS10699.1	16p12-p11	2008-02-05	2007-06-20	2007-06-20	ENSG00000099365	ENSG00000099365			18539	protein-coding gene	gene with protein product		601485	"syntaxin 1B1", "syntaxin 1B2"	STX1B1, STX1B2			Standard	NM_052874		Approved		uc010cad.2	P61266	OTTHUMG00000132391	ENST00000215095.5:c.269C>G	16.37:g.31012260G>C	ENSP00000215095:p.Ser90Cys					STX1B_ENST00000565419.1_Missense_Mutation_p.S90C	p.S90C	NM_052874.3	NP_443106.1	P61266	STX1B_HUMAN			4	500	-			90					Q15531|Q2VPS2	Missense_Mutation	SNP	ENST00000215095.5	37	c.269C>G	CCDS10699.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756596	0.89843	.	.	ENSG00000099365	ENST00000215095	T	0.54479	0.57	4.61	4.61	0.57282	t-SNARE (1);Syntaxin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.66446	0.2790	M	0.70275	2.135	0.80722	D	1	D;P	0.59357	0.985;0.918	P;P	0.56648	0.803;0.803	T	0.69476	-0.5135	10	0.49607	T	0.09	.	16.3478	0.83151	0.0:0.0:1.0:0.0	.	90;90	Q2VPS2;P61266	.;STX1B_HUMAN	C	90	ENSP00000215095:S90C	ENSP00000215095:S90C	S	-	2	0	STX1B	30919761	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.468000	0.53086	2.384000	0.81235	0.561000	0.74099	TCC		0.562	STX1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255521.2			4	60	0	0	0	0.009096	0	4	60					C	31012260	G	C	31012260	3	2	306	1	0	0	0	0	1	0	0	0	15343	1174	41	4	625	4	STX1B	16	31012260	Missense_Mutation	SNP	G	TCGA-EM-A2OZ-01A-11D-A202-08	9038056	31012260	59342493	25	6518											
FTO	79068	broad.mit.edu	37	chr16	53968001	53968001	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctcactgcacgccagaacctGaggagagaatggcatgccag	12	12	1	3			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr16:53968001G>A	ENST00000471389.1	+	8	1566	c.1344G>A	c.(1342-1344)ctG>ctA	p.L448L	FTO_ENST00000460382.1_Silent_p.L49L|FTO_ENST00000394647.3_Silent_p.L152L|FTO_ENST00000463855.1_Silent_p.L70L|FTO_ENST00000431610.2_Silent_p.L49L	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	448					adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515)			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GCCAGAACCTGAGGAGAGAAT	0.478																																						ENST00000471389.1																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(1342-1344)ctG>ctA		fat mass and obesity associated							105	84	91					16																	53968001		2198	4300	6498	SO:0001819	synonymous_variant	79068				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:53968001G>A	BC003583	CCDS32448.1	16q12.2	2013-11-15			ENSG00000140718	ENSG00000140718		"Alkylation repair homologs"	24678	protein-coding gene	gene with protein product	"AlkB homolog 9", "alpha-ketoglutarate-dependent dioxygenase"	610966				17434869, 17991826, 22002720	Standard	NM_001080432		Approved	KIAA1752, MGC5149, ALKBH9	uc002ehr.3	Q9C0B1	OTTHUMG00000158780	ENST00000471389.1:c.1344G>A	16.37:g.53968001G>A						FTO_ENST00000460382.1_Silent_p.L49L|FTO_ENST00000463855.1_Silent_p.L70L|FTO_ENST00000431610.2_Silent_p.L49L|FTO_ENST00000394647.3_Silent_p.L152L	p.L448L	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN			8	1566	+			448					A2RUH1|B2RNS0|Q0P676|Q7Z785	Silent	SNP	ENST00000471389.1	37	c.1344G>A	CCDS32448.1																																																																																				0.478	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352196.1	NM_001080432		7	39	0	0	0	0.001984	0	7	39					A	53968001	G	A	53968001	2	1	306	1	0	0	0	0	0	0	0	1	6086	1277	45	2		2	FTO	16	53968001	Silent	SNP	G	TCGA-EM-A2OZ-01A-11D-A202-08	22955741	53968001	36386752	26	6519											
CTCF	10664	broad.mit.edu	37	chr16	67663378	67663378	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aatggaggagaaacgaagaaGagtaaacgtggaagaaaaag	14	2	0	4			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr16:67663378G>C	ENST00000264010.4	+	10	2223	c.1779G>C	c.(1777-1779)aaG>aaC	p.K593N	CTCF_ENST00000401394.1_Missense_Mutation_p.K265N	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	593					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AAACGAAGAAGAGTAAACGTG	0.423																																					Colon(175;1200 1966 6945 23069 27405)	ENST00000264010.4																			0				breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79						c.(1777-1779)aaG>aaC		CCCTC-binding factor (zinc finger protein)							170	155	160					16																	67663378		2198	4300	6498	SO:0001583	missense	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67663378G>C	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"Zinc fingers, C2H2-type"	13723	protein-coding gene	gene with protein product	"11 zinc finger transcriptional repressor"	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1779G>C	16.37:g.67663378G>C	ENSP00000264010:p.Lys593Asn					CTCF_ENST00000401394.1_Missense_Mutation_p.K265N	p.K593N	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	10	2223	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	593					B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	37	c.1779G>C	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.908093	0.72868	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	T;T	0.09630	2.96;3.01	5.54	0.861	0.19048	.	0.000000	0.64402	D	0.000002	T	0.09512	0.0234	N	0.24115	0.695	0.50632	D	0.999889	P;P	0.45531	0.86;0.608	P;B	0.46362	0.514;0.19	T	0.14587	-1.0467	10	0.45353	T	0.12	-4.7368	11.4115	0.49929	0.2948:0.0:0.7052:0.0	.	265;593	B5MC38;P49711	.;CTCF_HUMAN	N	593;265	ENSP00000264010:K593N;ENSP00000384707:K265N	ENSP00000264010:K593N	K	+	3	2	CTCF	66220879	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	0.506000	0.22658	0.320000	0.23234	0.313000	0.20887	AAG		0.423	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		4	50	0	0	0	0.014758	0	4	50					C	67663378	G	C	67663378	3	2	306	1	0	0	0	0	1	0	0	0	4000	933	33	4	1809	4	CTCF	16	67663378	Missense_Mutation	SNP	G	TCGA-EM-A2OZ-01A-11D-A202-08	13695377	67663378	22691375	27	6520											
LYZL6	57151	broad.mit.edu	37	chr17	34264854	34264854	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggaagaggccatagtcaaagCttccatctgcattttcattt	8	9	3	1			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr17:34264854C>G	ENST00000585556.1	-	3	540	c.206G>C	c.(205-207)aGc>aCc	p.S69T	LYZL6_ENST00000492340.2_5'UTR|LYZL6_ENST00000293274.4_Missense_Mutation_p.S69T|LYZL6_ENST00000394523.3_Missense_Mutation_p.S69T			O75951	LYZL6_HUMAN	lysozyme-like 6	69					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATAGTCAAAGCTTCCATCTGC	0.448																																						ENST00000585556.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12						c.(205-207)aGc>aCc		lysozyme-like 6							107	104	105					17																	34264854		2203	4300	6503	SO:0001583	missense	57151				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr17:34264854C>G	AF088219, AY742214	CCDS11302.1	17q11.2	2014-04-10			ENSG00000161572	ENSG00000275722			29614	protein-coding gene	gene with protein product		612751				10213461	Standard	NM_020426		Approved	LYC1, PRO1485, TKAL754	uc002hkj.2	O75951	OTTHUMG00000188400	ENST00000585556.1:c.206G>C	17.37:g.34264854C>G	ENSP00000468094:p.Ser69Thr					LYZL6_ENST00000293274.4_Missense_Mutation_p.S69T|LYZL6_ENST00000394523.3_Missense_Mutation_p.S69T	p.S69T			O75951	LYZL6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	3	540	-			69					Q6UW30	Missense_Mutation	SNP	ENST00000585556.1	37	c.206G>C	CCDS11302.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.613436	0.46631	.	.	ENSG00000161572	ENST00000293274;ENST00000394523	T;T	0.55588	0.51;0.51	5.2	4.22	0.49857	Lysozyme-like domain (1);	0.297243	0.31279	N	0.007927	T	0.56352	0.1979	L	0.49513	1.565	0.36096	D	0.84377	P	0.40534	0.72	P	0.48524	0.58	T	0.67814	-0.5573	10	0.66056	D	0.02	-6.6305	12.3001	0.54870	0.0:0.83:0.17:0.0	.	69	O75951	LYZL6_HUMAN	T	69	ENSP00000293274:S69T;ENSP00000378031:S69T	ENSP00000293274:S69T	S	-	2	0	LYZL6	31288967	1.000000	0.71417	0.860000	0.33809	0.392000	0.30506	1.639000	0.37176	1.306000	0.44926	0.655000	0.94253	AGC		0.448	LYZL6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256578.2	NM_020426		8	46	0	0	0	0.006214	0	8	46					G	34264854	C	G	34264854	3	3	306	1	0	0	0	0	1	0	0	0	9134	797	28	4	252	4	LYZL6	17	34264854	Missense_Mutation	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08		34264854	46930356	28	6521											
TMC2	117532	broad.mit.edu	37	chr20	2552906	2552906	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctatatgcctacaagatgctGatggccaaggtgtgtggggt	14	7	0	2			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr20:2552906G>A	ENST00000358864.1	+	5	651	c.636G>A	c.(634-636)ctG>ctA	p.L212L		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	212	Arg/Asp/Glu/Lys-rich (highly charged).				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ACAAGATGCTGATGGCCAAGG	0.517																																						ENST00000358864.1																			0				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(634-636)ctG>ctA		transmembrane channel-like 2							100	92	94					20																	2552906		2203	4300	6503	SO:0001819	synonymous_variant	117532					integral to membrane		g.chr20:2552906G>A	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"transmembrane, cochlear expressed, 2"	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.636G>A	20.37:g.2552906G>A							p.L212L	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN			5	651	+			212			Arg/Asp/Glu/Lys-rich (highly charged).		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Silent	SNP	ENST00000358864.1	37	c.636G>A	CCDS13029.2																																																																																				0.517	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			5	46	0	0	0	0.014758	0	5	46					A	2552906	G	A	2552906	2	1	306	1	0	0	0	0	0	0	0	1	15982	1277	45	2		2	TMC2	20	2552906	Silent	SNP	G	TCGA-EM-A2OZ-01A-11D-A202-08		2552906	60472614	29	6522											
PAK7	57144	broad.mit.edu	37	chr20	9624844	9624844	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctttggcctgttggccgtatCtgctaacaggctgtgccact	11	12	1	0			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr20:9624844C>T	ENST00000378429.3	-	4	679	c.133G>A	c.(133-135)Gat>Aat	p.D45N	PAK7_ENST00000378423.1_Missense_Mutation_p.D45N|PAK7_ENST00000353224.5_Missense_Mutation_p.D45N	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	45	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TTGGCCGTATCTGCTAACAGG	0.547																																						ENST00000378429.3																			0				NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81						c.(133-135)Gat>Aat		p21 protein (Cdc42/Rac)-activated kinase 7							130	118	122					20																	9624844		2203	4300	6503	SO:0001583	missense	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9624844C>T	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"p21(CDKN1A)-activated kinase 7"			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.133G>A	20.37:g.9624844C>T	ENSP00000367686:p.Asp45Asn					PAK7_ENST00000378423.1_Missense_Mutation_p.D45N|PAK7_ENST00000353224.5_Missense_Mutation_p.D45N	p.D45N	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		4	679	-			45			Linker.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	c.133G>A	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.469034	0.84533	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423	D;D;D	0.85955	-2.05;-2.05;-2.05	5.96	5.96	0.96718	PAK-box/P21-Rho-binding (2);	0.000000	0.85682	D	0.000000	D	0.86719	0.6000	N	0.12961	0.28	0.58432	D	0.999995	P;D	0.89917	0.884;1.0	B;D	0.91635	0.394;0.999	D	0.85120	0.0968	9	.	.	.	.	20.394	0.98981	0.0:1.0:0.0:0.0	.	45;45	B0AZM9;Q9P286	.;PAK7_HUMAN	N	45	ENSP00000367686:D45N;ENSP00000322957:D45N;ENSP00000367679:D45N	.	D	-	1	0	PAK7	9572844	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	6.070000	0.71220	2.830000	0.97506	0.585000	0.79938	GAT		0.547	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			5	42	0	0	0	0.014758	0	5	42					T	9624844	C	T	9624844	3	4	306	1	0	0	0	0	1	0	0	0	11405	913	32	2	2058	2	PAK7	20	9624844	Missense_Mutation	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08	7071938	9624844	53400676	30	6523											
ITIH5L	347365	broad.mit.edu	37	chrX	54784371	54784371	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgggccaaggtgccagaAtcctgttgtgctggaatttt	14	8	0	1			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chrX:54784371A>G	ENST00000218436.6	-	8	2165	c.2136T>C	c.(2134-2136)gaT>gaC	p.D712D		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	712					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										AGGTGCCAGAATCCTGTTGTG	0.512																																						ENST00000218436.6																			0											c.(2134-2136)gaT>gaC		inter-alpha-trypsin inhibitor heavy chain family, member 6							156	138	144					X																	54784371		2203	4300	6503	SO:0001819	synonymous_variant	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54784371A>G	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.2136T>C	X.37:g.54784371A>G							p.D712D	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN			8	2165	-			712					A6NN03	Silent	SNP	ENST00000218436.6	37	c.2136T>C	CCDS14361.1																																																																																				0.512	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		9	42	0	0	0	0.010729	0	9	42					G	54784371	A	G	54784371	2	3	306	1	0	0	0	0	0	0	0	1	7908	98	4	3		3	ITIH5L	23	54784371	Silent	SNP	A	TCGA-EM-A2OZ-01A-11D-A202-08		54784371	100486189	31	6524											
ALDH1L1	10840	broad.mit.edu	37	chr3	125824683	125824683	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagcttgtcactgacatacaGggccttgttgatgtccctgg	12	10	1	2			TCGA-EM-A2P0-01A-11D-A202-08	TCGA-EM-A2P0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c54088d-e00c-470f-af79-71c1dae9b4d6	1de7e8e6-34d9-405f-91f0-94ca4b582450	g.chr3:125824683G>T	ENST00000393434.2	-	22	2888	c.2539C>A	c.(2539-2541)Ctg>Atg	p.L847M	ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.L746M|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.L857M|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.L847M	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	847	Aldehyde dehydrogenase.				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)	CTGACATACAGGGCCTTGTTG	0.552																																						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.(2539-2541)Ctg>Atg		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						179	168	172					3																	125824683		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.chr3:125824683G>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.2539C>A	3.37:g.125824683G>T	ENSP00000377083:p.Leu847Met					ALDH1L1_ENST00000472186.1_Missense_Mutation_p.L847M|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.L746M|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.L857M|ALDH1L1-AS1_ENST00000512384.1_RNA	p.L847M	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	22	2888	-			847			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	c.2539C>A	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.677362	0.47886	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	4.53	3.63	0.41609	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.64402	D	0.000006	T	0.73628	0.3611	N	0.25245	0.725	0.80722	D	1	D;D;P	0.58620	0.966;0.983;0.91	P;D;P	0.64042	0.788;0.921;0.679	T	0.69687	-0.5078	10	0.29301	T	0.29	.	5.9005	0.18964	0.1012:0.0:0.7096:0.1892	.	746;382;847	E9PBX3;Q6ZV71;O75891	.;.;AL1L1_HUMAN	M	857;847;746;847	ENSP00000273450:L857M;ENSP00000420293:L847M;ENSP00000395881:L746M;ENSP00000377083:L847M	ENSP00000273450:L857M	L	-	1	2	ALDH1L1	127307373	0.962000	0.33011	1.000000	0.80357	0.940000	0.58332	1.378000	0.34328	2.329000	0.79093	0.591000	0.81541	CTG		0.552	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		5	181	1	0	0.00116845	0.001168	0.00501744	5	181					T	125824683	G	T	125824683	3	4	307	1	0	0	0	0	1	0	0	0	494	991	35	4	177	4	ALDH1L1	3	125824683	Missense_Mutation	SNP	G	TCGA-EM-A2P0-01A-11D-A202-08		125824683	72197747	1	6525											
DNAH8	1769	broad.mit.edu	37	chr6	38980292	38980292	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctggaaaagagtgtcttgGgattcgtccacactgggctt	12	9	2	1			TCGA-EM-A2P0-01A-11D-A202-08	TCGA-EM-A2P0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c54088d-e00c-470f-af79-71c1dae9b4d6	1de7e8e6-34d9-405f-91f0-94ca4b582450	g.chr6:38980292G>A	ENST00000359357.3	+	89	13196	c.12942G>A	c.(12940-12942)tgG>tgA	p.W4314*	DNAH8_ENST00000441566.1_Nonsense_Mutation_p.W4278*			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4314					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						GAGTGTCTTGGGATTCGTCCA	0.413																																						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.(12940-12942)tgG>tgA		dynein, axonemal, heavy chain 8							174	161	165					6																	38980292		2203	4300	6503	SO:0001587	stop_gained	1769							g.chr6:38980292G>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.12942G>A	6.37:g.38980292G>A	ENSP00000352312:p.Trp4314*					DNAH8_ENST00000441566.1_Nonsense_Mutation_p.W4278*	p.W4314*							89	13196	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Nonsense_Mutation	SNP	ENST00000359357.3	37	c.12942G>A		.	.	.	.	.	.	.	.	.	.	G	55	24.283645	0.99959	.	.	ENSG00000124721	ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.5149	0.90933	0.0:0.0:1.0:0.0	.	.	.	.	X	4519;4314;4278	.	ENSP00000333363:W4519X	W	+	3	0	DNAH8	39088270	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.449000	0.73473	2.822000	0.97130	0.650000	0.86243	TGG		0.413	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		4	159	0	0	0	0.009096	0	4	159					A	38980292	G	A	38980292	4	1	307	1	0	0	0	0	0	1	0	0	4607	1241	43	2	13288	2	DNAH8	6	38980292	Nonsense_Mutation	SNP	G	TCGA-EM-A2P0-01A-11D-A202-08		38980292	132134775	2	6526											
SYNE1	23345	broad.mit.edu	37	chr6	152737750	152737750	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggaagtcctttgctcagagCtcccgattttcagatggtat	10	9	2	2			TCGA-EM-A2P0-01A-11D-A202-08	TCGA-EM-A2P0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c54088d-e00c-470f-af79-71c1dae9b4d6	1de7e8e6-34d9-405f-91f0-94ca4b582450	g.chr6:152737750C>A	ENST00000367255.5	-	41	6423	c.5822G>T	c.(5821-5823)aGc>aTc	p.S1941I	SYNE1_ENST00000448038.1_Missense_Mutation_p.S1948I|SYNE1_ENST00000265368.4_Missense_Mutation_p.S1941I|SYNE1_ENST00000423061.1_Missense_Mutation_p.S1948I|SYNE1_ENST00000341594.5_Missense_Mutation_p.S1978I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1941					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGCTCAGAGCTCCCGATTTT	0.498										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(5821-5823)aGc>aTc		spectrin repeat containing, nuclear envelope 1							113	110	111					6																	152737750		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152737750C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.5822G>T	6.37:g.152737750C>A	ENSP00000356224:p.Ser1941Ile	HNSCC(10;0.0054)				SYNE1_ENST00000265368.4_Missense_Mutation_p.S1941I|SYNE1_ENST00000341594.5_Missense_Mutation_p.S1978I|SYNE1_ENST00000448038.1_Missense_Mutation_p.S1948I|SYNE1_ENST00000423061.1_Missense_Mutation_p.S1948I	p.S1941I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	41	6423	-		Ovarian(120;0.0955)	1941					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.5822G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	10.57	1.386040	0.25031	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16	6.17	5.26	0.73747	.	0.411950	0.25642	N	0.029266	T	0.10465	0.0256	N	0.16307	0.4	0.25777	N	0.984773	B;B;B;B	0.10296	0.003;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.001;0.001;0.003	T	0.04885	-1.0920	10	0.33141	T	0.24	.	11.4061	0.49898	0.1303:0.657:0.2127:0.0	.	1924;1941;1941;1948	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	I	1941;1948;1941;1948;1978	ENSP00000356224:S1941I;ENSP00000396024:S1948I;ENSP00000265368:S1941I;ENSP00000390975:S1948I;ENSP00000341887:S1978I	ENSP00000265368:S1941I	S	-	2	0	SYNE1	152779443	0.000000	0.05858	0.192000	0.23308	0.997000	0.91878	0.473000	0.22132	2.941000	0.99782	0.655000	0.94253	AGC		0.498	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		4	112	1	0	2.56e-06	0.009096	1.24587e-05	4	112					A	152737750	C	A	152737750	3	1	307	1	0	0	0	0	1	0	0	0	15442	797	28	4	21068	4	SYNE1	6	152737750	Missense_Mutation	SNP	C	TCGA-EM-A2P0-01A-11D-A202-08	113757458	152737750	18377317	3	6527											
DLX6	1750	broad.mit.edu	37	chr7	96635421	96635429	+	In_Frame_Del	DEL	GCCGCCGCC	GCCGCCGCC	-													cagcagcagcaacagcaacaGccgccgccgccgccgccgcc					rs527616759|rs540915866|rs570498188|rs374304439	byFrequency	TCGA-EM-A2P0-01A-11D-A202-08	TCGA-EM-A2P0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c54088d-e00c-470f-af79-71c1dae9b4d6	1de7e8e6-34d9-405f-91f0-94ca4b582450	g.chr7:96635421_96635429delGCCGCCGCC	ENST00000518156.2	+	1	562_570	c.132_140delGCCGCCGCC	c.(130-141)cagccgccgccg>cag	p.PPP51del	DLX6-AS1_ENST00000437541.1_RNA|DLX6_ENST00000555308.1_5'Flank|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000431497.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS2_ENST00000606174.1_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	0					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					aacagcaacagccgccgccgccgccgccg	0.713																																						ENST00000518156.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(130-141)cag>ca		distal-less homeobox 6																																				SO:0001651	inframe_deletion	1750				nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:96635421_96635429delGCCGCCGCC		CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"Homeoboxes / ANTP class : NKL subclass"	2919	protein-coding gene	gene with protein product		600030	"distal-less homeo box 6"			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.132_140delGCCGCCGCC	7.37:g.96635430_96635438delGCCGCCGCC	ENSP00000428480:p.Pro51_Pro53del					DLX6-AS1_ENST00000605417.1_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000430027.2_RNA	p.QPPP44del			P56179	DLX6_HUMAN			1	562_570	+	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		0					A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	In_Frame_Del	DEL	ENST00000518156.2	37	c.132_140delGCCGCCGCC	CCDS47647.2																																																																																				0.713	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	NM_005222		3	6						3	6	---	---	---	---	-	96635429	GCCGCCGCC	-	96635421	7	5	307	1	0	1	0	1	0	0	0	0	4575	962	34	0	134	0	DLX6	7	96635421	In_Frame_Del	DEL	GCCGCCGCC	TCGA-EM-A2P0-01A-11D-A202-08		96635421	62503242	4	6528											
MUC17	140453	broad.mit.edu	37	chr7	100675605	100675605	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacaactcctgctgccaccaAcattcctgtgatcacttcta	4	15	2	1			TCGA-EM-A2P0-01A-11D-A202-08	TCGA-EM-A2P0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c54088d-e00c-470f-af79-71c1dae9b4d6	1de7e8e6-34d9-405f-91f0-94ca4b582450	g.chr7:100675605A>G	ENST00000306151.4	+	3	972	c.908A>G	c.(907-909)aAc>aGc	p.N303S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	303	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCTGCCACCAACATTCCTGTG	0.493																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(907-909)aAc>aGc		mucin 17, cell surface associated							174	178	177					7																	100675605		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100675605A>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.908A>G	7.37:g.100675605A>G	ENSP00000302716:p.Asn303Ser						p.N303S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	972	+	Lung NSC(181;0.136)|all_lung(186;0.182)		303			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.908A>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	1.644	-0.515603	0.04200	.	.	ENSG00000169876	ENST00000306151	T	0.02369	4.32	1.28	-1.54	0.08584	.	.	.	.	.	T	0.00998	0.0033	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46233	-0.9206	9	0.02654	T	1	.	4.9418	0.13969	0.204:0.2869:0.5091:0.0	.	303	Q685J3	MUC17_HUMAN	S	303	ENSP00000302716:N303S	ENSP00000302716:N303S	N	+	2	0	MUC17	100462325	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.609000	0.05635	-0.449000	0.07117	-0.686000	0.03744	AAC		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		11	355	0	0	0	0.013537	0	11	355					G	100675605	A	G	100675605	3	3	307	1	0	0	0	0	1	0	0	0	9974	43	2	3	918	3	MUC17	7	100675605	Missense_Mutation	SNP	A	TCGA-EM-A2P0-01A-11D-A202-08	4040184	100675605	58463058	5	6529											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A2P0-01A-11D-A202-08	TCGA-EM-A2P0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c54088d-e00c-470f-af79-71c1dae9b4d6	1de7e8e6-34d9-405f-91f0-94ca4b582450	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		22	42	0	0	0	0.014323	0	22	42					T	140453136	A	T	140453136	3	4	307	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A2P0-01A-11D-A202-08	39777531	140453136	18685527	6	6530											
ABCC4	10257	broad.mit.edu	37	chr13	95727771	95727773	+	In_Frame_Del	DEL	AGA	AGA	-													atggtccagagcccctggagAgaagatgataagtgggaaaa							TCGA-EM-A2P0-01A-11D-A202-08	TCGA-EM-A2P0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c54088d-e00c-470f-af79-71c1dae9b4d6	1de7e8e6-34d9-405f-91f0-94ca4b582450	g.chr13:95727771_95727773delAGA	ENST00000376887.4	-	22	2833_2835	c.2719_2721delTCT	c.(2719-2721)tctdel	p.S907del	ABCC4_ENST00000474158.1_5'Flank|ABCC4_ENST00000412704.1_In_Frame_Del_p.S860del	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	907	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	GCCCCTGGAGAGAAGATGATAAG	0.512																																						ENST00000376887.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(2719-2721)del		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)																																			SO:0001651	inframe_deletion	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95727771_95727773delAGA	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"ATP binding cassette transporters / subfamily C"	55	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter (ABC superfamily)", "bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)", "multidrug resistance-associated protein 4", "multispecific organic anion transporter B"	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.2719_2721delTCT	13.37:g.95727774_95727776delAGA	ENSP00000366084:p.Ser907del					ABCC4_ENST00000412704.1_In_Frame_Del_p.S860del	p.S907del	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN			22	2833_2835	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		907			ABC transmembrane type-1 2.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	In_Frame_Del	DEL	ENST00000376887.4	37	c.2719_2721delTCT	CCDS9474.1																																																																																				0.512	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		37	117						37	117	---	---	---	---	-	95727773	AGA	-	95727771	7	5	307	1	0	1	0	1	0	0	0	0	55	291	11	0	1296	0	ABCC4	13	95727771	In_Frame_Del	DEL	AGA	TCGA-EM-A2P0-01A-11D-A202-08		95727771	19442107	7	6531											
NETO2	81831	broad.mit.edu	37	chr16	47117466	47117466	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agttgtccaattcttccgacAagtctgccaggtctgcagaa	9	11	3	1			TCGA-EM-A2P0-01A-11D-A202-08	TCGA-EM-A2P0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c54088d-e00c-470f-af79-71c1dae9b4d6	1de7e8e6-34d9-405f-91f0-94ca4b582450	g.chr16:47117466A>C	ENST00000562435.1	-	9	1628	c.1244T>G	c.(1243-1245)tTg>tGg	p.L415W	NETO2_ENST00000303155.5_Missense_Mutation_p.L408W	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	415					regulation of kainate selective glutamate receptor activity (GO:2000312)	kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				TTCTTCCGACAAGTCTGCCAG	0.517										HNSCC(25;0.065)																												ENST00000562435.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29						c.(1243-1245)tTg>tGg		neuropilin (NRP) and tolloid (TLL)-like 2							78	78	78					16																	47117466		2203	4300	6503	SO:0001583	missense	81831					integral to membrane	receptor activity	g.chr16:47117466A>C	AK001292	CCDS10727.1, CCDS58460.1	16q11.2	2008-08-04			ENSG00000171208	ENSG00000171208			14644	protein-coding gene	gene with protein product		607974				11943477	Standard	NM_018092		Approved	FLJ10430, NEOT2	uc002eer.2	Q8NC67	OTTHUMG00000133101	ENST00000562435.1:c.1244T>G	16.37:g.47117466A>C	ENSP00000455169:p.Leu415Trp	HNSCC(25;0.065)				NETO2_ENST00000303155.5_Missense_Mutation_p.L408W	p.L415W	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN			9	1628	-		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)	415					J3KNF1|Q7Z381|Q8ND51|Q96SP4|Q9NVY8	Missense_Mutation	SNP	ENST00000562435.1	37	c.1244T>G	CCDS10727.1	.	.	.	.	.	.	.	.	.	.	A	16.35	3.097474	0.56075	.	.	ENSG00000171208	ENST00000303155	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.76695	0.4023	L	0.59436	1.845	0.54753	D	0.999983	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.996;0.997;0.999	T	0.78912	-0.2017	9	0.87932	D	0	.	16.1138	0.81283	1.0:0.0:0.0:0.0	.	272;415;91	B7Z4I7;Q8NC67;Q8NC67-2	.;NETO2_HUMAN;.	W	415	.	ENSP00000306726:L415W	L	-	2	0	NETO2	45674967	1.000000	0.71417	0.798000	0.32154	0.096000	0.18686	9.326000	0.96389	2.220000	0.72140	0.533000	0.62120	TTG		0.517	NETO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256766.2	NM_018092		3	145	0	0	0	0.009096	0	3	145					C	47117466	A	C	47117466	3	2	307	1	0	0	0	0	1	0	0	0	10340	131	5	5	337	5	NETO2	16	47117466	Missense_Mutation	SNP	A	TCGA-EM-A2P0-01A-11D-A202-08		47117466	43237287	8	6532											
ZFHX3	463	broad.mit.edu	37	chr16	72829160	72829160	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaacgaaggcagggacaccAgctgggggagcttctgctgg	17	10	1	0			TCGA-EM-A2P0-01A-11D-A202-08	TCGA-EM-A2P0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c54088d-e00c-470f-af79-71c1dae9b4d6	1de7e8e6-34d9-405f-91f0-94ca4b582450	g.chr16:72829160A>C	ENST00000268489.5	-	9	8093	c.7421T>G	c.(7420-7422)cTg>cGg	p.L2474R	ZFHX3_ENST00000397992.5_Missense_Mutation_p.L1560R	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2474					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)				CAGGGACACCAGCTGGGGGAG	0.617																																						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.(7420-7422)cTg>cGg		zinc finger homeobox 3							99	88	92					16																	72829160		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.chr16:72829160A>C	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.7421T>G	16.37:g.72829160A>C	ENSP00000268489:p.Leu2474Arg					ZFHX3_ENST00000397992.5_Missense_Mutation_p.L1560R	p.L2474R	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	8093	-		Ovarian(137;0.13)	2474					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.7421T>G	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	A	3.015	-0.203008	0.06219	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.73152	-0.72;-0.72	5.64	4.52	0.55395	.	0.195649	0.24674	N	0.036528	T	0.48429	0.1499	N	0.08118	0	0.28204	N	0.927213	P	0.44877	0.845	B	0.41860	0.368	T	0.39418	-0.9615	10	0.16420	T	0.52	.	9.8347	0.40963	0.921:0.0:0.079:0.0	.	2474	Q15911	ZFHX3_HUMAN	R	2474;1560	ENSP00000268489:L2474R;ENSP00000438926:L1560R	ENSP00000268489:L2474R	L	-	2	0	ZFHX3	71386661	1.000000	0.71417	0.967000	0.41034	0.081000	0.17604	3.924000	0.56476	0.919000	0.36945	0.459000	0.35465	CTG		0.617	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		4	84	0	0	0	0.014758	0	4	84					C	72829160	A	C	72829160	3	2	307	1	0	0	0	0	1	0	0	0	17631	188	7	5	3698	5	ZFHX3	16	72829160	Missense_Mutation	SNP	A	TCGA-EM-A2P0-01A-11D-A202-08	25711694	72829160	17525593	9	6533											
CSMD2	114784	broad.mit.edu	37	chr1	34128590	34128590	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggtccttgggcagggcCgggccactcagctccttcag	14	14	2	0	rs115110975	byFrequency	TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr1:34128590C>T	ENST00000373380.1	-	5	994	c.774G>A	c.(772-774)ccG>ccA	p.P258P	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Silent_p.P1385P			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1345	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A1346S(1)|p.P1345P(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGGGCAGGGCCGGGCCACTCA	0.572													C|||	7	0.00139776	0.0053	0	5008	,	,		20700	0		0	False		,,,				2504	0					ENST00000373381.4																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.A1346S(1)|p.P1345P(1)	lung(2)	NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(4153-4155)ccG>ccA		CUB and Sushi multiple domains 2		C		16,4390	23.3+/-48.9	0,16,2187	98	91	93		4035	-11.3	0.0	1	dbSNP_133	93	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CSMD2	NM_052896.3		0,17,6486	TT,TC,CC		0.0116,0.3631,0.1307		1345/3488	34128590	17,12989	2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34128590C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.774G>A	1.37:g.34128590C>T						CSMD2_ENST00000373380.1_Silent_p.P258P|CSMD2_ENST00000373388.2_5'UTR	p.P1385P	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			26	4331	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1345			Sushi 8.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373380.1	37	c.4155G>A																																																																																					0.572	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		7	102	0	0	0	0.001984	0	7	102					T	34128590	C	T	34128590	2	4	308	1	0	0	0	0	0	0	0	1	3945	639	23	1		1	CSMD2	1	34128590	Silent	SNP	C	TCGA-EM-A2P1-01A-11D-A202-08		34128590	215122031	1	6534											
LRIG2	9860	broad.mit.edu	37	chr1	113616164	113616164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcaggtctctgccccgcgCcctgctcctgccgcattcct	10	19	1	0			TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr1:113616164C>T	ENST00000361127.5	+	1	334	c.136C>T	c.(136-138)Ccc>Tcc	p.P46S	RP11-31F15.2_ENST00000421157.1_lincRNA	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	46	LRRNT.				innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CTGCCCCGCGCCCTGCTCCTG	0.652											OREG0013684	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361127.4																			0				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31						c.(136-138)Ccc>Tcc		leucine-rich repeats and immunoglobulin-like domains 2							85	99	94					1																	113616164		2203	4299	6502	SO:0001583	missense	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113616164C>T	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"Immunoglobulin superfamily / I-set domain containing"	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.136C>T	1.37:g.113616164C>T	ENSP00000355396:p.Pro46Ser		OREG0013684	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1451		p.P46S	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	1	334	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	46			LRRNT.		Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	c.136C>T	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067501	0.36470	.	.	ENSG00000198799	ENST00000361127	T	0.60920	0.15	4.93	4.93	0.64822	.	0.293082	0.31760	N	0.007115	T	0.28699	0.0711	L	0.41824	1.3	0.36170	D	0.848693	B	0.17667	0.023	B	0.16289	0.015	T	0.07888	-1.0749	10	0.10636	T	0.68	.	13.5116	0.61515	0.0:1.0:0.0:0.0	.	46	O94898	LRIG2_HUMAN	S	46	ENSP00000355396:P46S	ENSP00000355396:P46S	P	+	1	0	LRIG2	113417687	0.634000	0.27190	0.487000	0.27428	0.601000	0.36947	3.139000	0.50577	2.555000	0.86185	0.563000	0.77884	CCC		0.652	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		6	253	0	0	0	0.001168	0	6	253					T	113616164	C	T	113616164	3	4	308	1	0	0	0	0	1	0	0	0	8945	739	26	2	138	2	LRIG2	1	113616164	Missense_Mutation	SNP	C	TCGA-EM-A2P1-01A-11D-A202-08	79487574	113616164	135634457	2	6535											
ADCY10	55811	broad.mit.edu	37	chr1	167805622	167805622	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaggctttgtcattttctccCaaagccagaaaatggtgggc	10	9	2	1			TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr1:167805622C>A	ENST00000367851.4	-	23	3418	c.3234G>T	c.(3232-3234)ttG>ttT	p.L1078F	ADCY10_ENST00000545172.1_Missense_Mutation_p.L925F|ADCY10_ENST00000367848.1_Missense_Mutation_p.L986F	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1078					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CATTTTCTCCCAAAGCCAGAA	0.413																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(2956-2958)ttG>ttT		adenylate cyclase 10 (soluble)							77	79	78					1																	167805622		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167805622C>A	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.3234G>T	1.37:g.167805622C>A	ENSP00000356825:p.Leu1078Phe					ADCY10_ENST00000485964.1_Intron|ADCY10_ENST00000545172.1_Missense_Mutation_p.L925F|ADCY10_ENST00000367851.4_Missense_Mutation_p.L1078F	p.L986F			Q96PN6	ADCYA_HUMAN			23	3455	-			1078					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.2958G>T	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.388306	0.42308	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.78924	-1.22;-1.22;-1.22	5.26	2.33	0.28932	.	0.138346	0.32343	N	0.006236	T	0.78123	0.4234	M	0.65975	2.015	0.32291	N	0.5663199999999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.77024	-0.2741	9	0.52906	T	0.07	-18.1	7.1275	0.25479	0.0:0.713:0.0:0.287	.	986;1078	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	F	925;1078;986	ENSP00000441992:L925F;ENSP00000356825:L1078F;ENSP00000356822:L986F	ENSP00000356822:L986F	L	-	3	2	ADCY10	166072246	0.339000	0.24784	0.525000	0.27900	0.633000	0.38033	0.217000	0.17603	0.782000	0.33613	-0.133000	0.14855	TTG		0.413	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		5	84	1	0	0.00116845	0.001168	0.00822239	5	84					A	167805622	C	A	167805622	3	1	308	1	0	0	0	0	1	0	0	0	293	593	21	4	1642	4	ADCY10	1	167805622	Missense_Mutation	SNP	C	TCGA-EM-A2P1-01A-11D-A202-08	54189458	167805622	81444999	3	6536											
OTX1	5013	broad.mit.edu	37	chr2	63283329	63283329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcttgccttcaactctgccGactgcttggattacaaggag	11	11	2	0			TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr2:63283329G>A	ENST00000282549.2	+	5	1219	c.943G>A	c.(943-945)Gac>Aac	p.D315N	OTX1_ENST00000366671.3_Missense_Mutation_p.D315N	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	315					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					CAACTCTGCCGACTGCTTGGA	0.607																																						ENST00000366671.3																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(943-945)Gac>Aac		orthodenticle homeobox 1							83	66	72					2																	63283329		2203	4300	6503	SO:0001583	missense	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63283329G>A		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"Homeoboxes / PRD class"	8521	protein-coding gene	gene with protein product		600036	"orthodenticle (Drosophila) homolog 1", "orthodenticle homolog 1 (Drosophila)"			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.943G>A	2.37:g.63283329G>A	ENSP00000282549:p.Asp315Asn					OTX1_ENST00000282549.2_Missense_Mutation_p.D315N	p.D315N	NM_001199770.1	NP_001186699.1	P32242	OTX1_HUMAN			5	1219	+	Lung NSC(7;0.121)|all_lung(7;0.211)		315					A6NHA2|B3KTJ4|Q53TG6	Missense_Mutation	SNP	ENST00000282549.2	37	c.943G>A	CCDS1873.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509000	0.85282	.	.	ENSG00000115507	ENST00000366671;ENST00000282549	D;D	0.93426	-3.22;-3.22	4.43	3.53	0.40419	.	0.055730	0.64402	D	0.000002	D	0.88808	0.6537	L	0.52905	1.665	0.53688	D	0.999974	P	0.35551	0.509	B	0.24394	0.053	D	0.89466	0.3740	10	0.72032	D	0.01	.	11.0236	0.47732	0.0946:0.0:0.9054:0.0	.	315	P32242	OTX1_HUMAN	N	315	ENSP00000355631:D315N;ENSP00000282549:D315N	ENSP00000282549:D315N	D	+	1	0	OTX1	63136833	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.610000	0.74178	2.163000	0.67991	0.561000	0.74099	GAC		0.607	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			15	70	0	0	0	0.00245	0	15	70					A	63283329	G	A	63283329	3	1	308	1	0	0	0	0	1	0	0	0	11320	1058	37	1	953	1	OTX1	2	63283329	Missense_Mutation	SNP	G	TCGA-EM-A2P1-01A-11D-A202-08		63283329	179916044	4	6537											
XRN1	54464	broad.mit.edu	37	chr3	142037638	142037638	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggacagttcttaccaactgTtgtaaagcaaaaagtgcagc	9	8	1	0			TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr3:142037638T>C	ENST00000264951.4	-	38	4626	c.4509A>G	c.(4507-4509)caA>caG	p.Q1503Q	XRN1_ENST00000392981.2_Silent_p.Q1504Q	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1503					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TTACCAACTGTTGTAAAGCAA	0.363																																						ENST00000264951.4																			0				NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						c.(4507-4509)caA>caG		5'-3' exoribonuclease 1							93	90	91					3																	142037638		2203	4300	6503	SO:0001819	synonymous_variant	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142037638T>C	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.4509A>G	3.37:g.142037638T>C						XRN1_ENST00000392981.2_Silent_p.Q1504Q	p.Q1503Q	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN			38	4626	-			1503					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Silent	SNP	ENST00000264951.4	37	c.4509A>G	CCDS3123.1																																																																																				0.363	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		5	52	0	0	0	0.000602	0	5	52					C	142037638	T	C	142037638	2	2	308	1	0	0	0	0	0	0	0	1	17456	1722	60	3		3	XRN1	3	142037638	Silent	SNP	T	TCGA-EM-A2P1-01A-11D-A202-08		142037638	55984792	5	6538											
BAT2	7916	broad.mit.edu	37	chr6	31599848	31599848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccaaggagggaacactcaCccaggtccctctcgctcccc	8	19	2	0			TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr6:31599848C>T	ENST00000376033.2	+	16	3632	c.3398C>T	c.(3397-3399)aCc>aTc	p.T1133I	PRRC2A_ENST00000376007.4_Missense_Mutation_p.T1133I	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1133	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GGAACACTCACCCAGGTCCCT	0.672																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(3397-3399)aCc>aTc		proline-rich coiled-coil 2A							39	51	47					6																	31599848		1508	2709	4217	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31599848C>T	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.3398C>T	6.37:g.31599848C>T	ENSP00000365201:p.Thr1133Ile					PRRC2A_ENST00000376007.4_Missense_Mutation_p.T1133I	p.T1133I	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			16	3632	+			1133			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.3398C>T	CCDS4708.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.650|1.650	-0.514288|-0.514288	0.04200|0.04200	.|.	.|.	ENSG00000204469|ENSG00000204469	ENST00000424184;ENST00000435052|ENST00000376007;ENST00000376033;ENST00000376010	.|T;T	.|0.01647	.|4.71;4.71	5.29|5.29	4.42|4.42	0.53409|0.53409	.|.	.|0.693290	.|0.13762	.|N	.|0.364549	T|T	0.00580|0.00580	0.0019|0.0019	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B	.|0.19583	.|0.037	.|B	.|0.18263	.|0.021	T|T	0.51204|0.51204	-0.8735|-0.8735	6|10	0.87932|0.87932	D|D	0|0	0.0014|0.0014	14.2171|14.2171	0.65800|0.65800	0.0:0.7167:0.2833:0.0|0.0:0.7167:0.2833:0.0	.|.	.|1133	.|P48634	.|PRC2A_HUMAN	S|I	1132;1121|1133;1133;358	.|ENSP00000365175:T1133I;ENSP00000365201:T1133I	ENSP00000407986:P1132S|ENSP00000365175:T1133I	P|T	+|+	1|2	0|0	PRRC2A|PRRC2A	31707827|31707827	0.012000|0.012000	0.17670|0.17670	0.017000|0.017000	0.16124|0.16124	0.389000|0.389000	0.30415|0.30415	1.572000|1.572000	0.36461|0.36461	1.446000|1.446000	0.47643|0.47643	0.655000|0.655000	0.94253|0.94253	CCC|ACC		0.672	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		8	104	0	0	0	0.006214	0	8	104					T	31599848	C	T	31599848	3	4	308	1	0	0	0	0	1	0	0	0	1319	507	18	2	3456	2	BAT2	6	31599848	Missense_Mutation	SNP	C	TCGA-EM-A2P1-01A-11D-A202-08		31599848	139515219	6	6539											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		9	54	0	0	0	0.006214	0	9	54					T	140453136	A	T	140453136	3	4	308	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A2P1-01A-11D-A202-08		140453136	18685527	7	6540											
RP1	6101	broad.mit.edu	37	chr8	55539380	55539380	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacataactaaaattgccGgtttgacaggagataatcta	8	7	1	2	rs202226256		TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr8:55539380G>A	ENST00000220676.1	+	4	3086	c.2938G>A	c.(2938-2940)Ggt>Agt	p.G980S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	980					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TAAAATTGCCGGTTTGACAGG	0.348																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(2938-2940)Ggt>Agt		retinitis pigmentosa 1 (autosomal dominant)							110	118	116					8																	55539380		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55539380G>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2938G>A	8.37:g.55539380G>A	ENSP00000220676:p.Gly980Ser						p.G980S	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	3086	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	980						Missense_Mutation	SNP	ENST00000220676.1	37	c.2938G>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.134739	0.00338	.	.	ENSG00000104237	ENST00000220676	T	0.37411	1.2	5.62	-2.05	0.07321	.	1.348760	0.04536	N	0.387217	T	0.07007	0.0178	N	0.00347	-1.61	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33214	-0.9877	10	0.02654	T	1	.	0.6015	0.00745	0.4295:0.185:0.1801:0.2054	.	980	P56715	RP1_HUMAN	S	980	ENSP00000220676:G980S	ENSP00000220676:G980S	G	+	1	0	RP1	55701933	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.073000	0.11468	-0.160000	0.11002	-0.983000	0.02560	GGT		0.348	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		5	173	0	0	0	0.001168	0	5	173					A	55539380	G	A	55539380	3	1	308	1	0	0	0	0	1	0	0	0	13532	1116	39	1	2948	1	RP1	8	55539380	Missense_Mutation	SNP	G	TCGA-EM-A2P1-01A-11D-A202-08		55539380	90824642	8	6541											
KRTAP5-3	387266	broad.mit.edu	37	chr11	1629160	1629160	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggactgggagcagctgggCttgcagcagctggactggca	17	10	0	0			TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr11:1629160C>T	ENST00000399685.1	-	1	533	c.456G>A	c.(454-456)aaG>aaA	p.K152K		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	152	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		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;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		AGCAGCTGGGCTTGCAGCAGC	0.637																																						ENST00000399685.1																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8						c.(454-456)aaG>aaA		keratin associated protein 5-3							123	136	132					11																	1629160		2202	4299	6501	SO:0001819	synonymous_variant	387266					keratin filament		g.chr11:1629160C>T	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"Keratin associated proteins"	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.456G>A	11.37:g.1629160C>T							p.K152K	NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	1	533	-		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)	152			11 X 4 AA repeats of C-C-X-P.		Q6PL44|Q701N3	Silent	SNP	ENST00000399685.1	37	c.456G>A	CCDS41591.1																																																																																				0.637	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			6	368	0	0	0	0.004482	0	6	368					T	1629160	C	T	1629160	2	4	308	1	0	0	0	0	0	0	0	1	8562	796	28	2		2	KRTAP5-3	11	1629160	Silent	SNP	C	TCGA-EM-A2P1-01A-11D-A202-08		1629160	133377356	9	6542											
KBTBD6	89890	broad.mit.edu	37	chr13	41705897	41705897	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	actgggaccccgctctttggGagcagcctccagccactgca	11	16	1	0	rs150633583	byFrequency	TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr13:41705897G>C	ENST00000379485.1	-	1	985	c.751C>G	c.(751-753)Ccc>Gcc	p.P251A	KBTBD6_ENST00000499385.2_Missense_Mutation_p.P185A	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	251								p.P251A(1)		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)		CGCTCTTTGGGAGCAGCCTCC	0.587													G|||	4	0.000798722	0.003	0	5008	,	,		19033	0		0	False		,,,				2504	0					ENST00000379485.1																			1	Substitution - Missense(1)	p.P251A(1)	skin(1)	NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43						c.(751-753)Ccc>Gcc		kelch repeat and BTB (POZ) domain containing 6		G	ALA/PRO	14,4392	19.1+/-41.9	0,14,2189	64	65	65		751	3.7	1.0	13	dbSNP_134	65	0,8600		0,0,4300	yes	missense	KBTBD6	NM_152903.4	27	0,14,6489	CC,CG,GG		0.0,0.3177,0.1076	benign	251/675	41705897	14,12992	2203	4300	6503	SO:0001583	missense	89890						protein binding	g.chr13:41705897G>C	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.751C>G	13.37:g.41705897G>C	ENSP00000368799:p.Pro251Ala					KBTBD6_ENST00000499385.2_Missense_Mutation_p.P185A	p.P251A	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	985	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	251					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	c.751C>G	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	g	3.422	-0.117976	0.06838	0.003177	0.0	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.67523	-0.27;-0.27	3.68	3.68	0.42216	BTB/Kelch-associated (2);	0.074945	0.53938	D	0.000048	T	0.51193	0.1660	L	0.31926	0.97	0.38217	D	0.940638	B;B	0.10296	0.003;0.001	B;B	0.15052	0.012;0.006	T	0.48328	-0.9045	10	0.08837	T	0.75	.	13.263	0.60117	0.0:0.0:1.0:0.0	.	185;251	F5GZN7;Q86V97	.;KBTB6_HUMAN	A	251;185	ENSP00000368799:P251A;ENSP00000444326:P185A	ENSP00000368799:P251A	P	-	1	0	KBTBD6	40603897	0.817000	0.29147	0.996000	0.52242	0.966000	0.64601	1.519000	0.35888	2.060000	0.61445	0.455000	0.32223	CCC		0.587	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		3	125	0	0	0	0.004672	0	3	125					C	41705897	G	C	41705897	3	2	308	1	0	0	0	0	1	0	0	0	7997	1174	41	4	1277	4	KBTBD6	13	41705897	Missense_Mutation	SNP	G	TCGA-EM-A2P1-01A-11D-A202-08		41705897	73463981	10	6543											
DHRS4	10901	broad.mit.edu	37	chr14	24435536	24435536	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aaaacagccttgctgggcctGaccaagaccctggccataga	10	13	0	3	rs75479712		TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr14:24435536G>C	ENST00000313250.5	+	6	779	c.576G>C	c.(574-576)ctG>ctC	p.L192L	DHRS4_ENST00000397075.3_Intron|DHRS4_ENST00000558263.1_Intron|DHRS4_ENST00000308178.8_Intron|DHRS4_ENST00000397073.2_Intron|DHRS4_ENST00000558581.1_Silent_p.L158L|DHRS4_ENST00000421831.1_Silent_p.L140L|DHRS4_ENST00000382761.3_Intron|DHRS4_ENST00000397074.3_Intron|DHRS4_ENST00000559632.1_Intron|DHRS4_ENST00000543741.2_Intron	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	192					alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	TGCTGGGCCTGACCAAGACCC	0.493																																						ENST00000313250.5																			0				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(574-576)ctG>ctC		dehydrogenase/reductase (SDR family) member 4	Vitamin A(DB00162)						180	156	164					14																	24435536		2201	4300	6501	SO:0001819	synonymous_variant	10901					mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity	g.chr14:24435536G>C	AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	16985	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 2"	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.576G>C	14.37:g.24435536G>C						DHRS4_ENST00000543741.2_Intron|DHRS4_ENST00000397075.3_Intron|DHRS4_ENST00000421831.1_Silent_p.L140L|DHRS4_ENST00000397073.2_Intron|DHRS4_ENST00000397074.3_Intron|DHRS4_ENST00000558581.1_Silent_p.L158L|DHRS4_ENST00000382761.3_Intron|DHRS4_ENST00000558263.1_Intron|DHRS4_ENST00000559632.1_Intron|DHRS4_ENST00000308178.8_Intron	p.L192L	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN		GBM - Glioblastoma multiforme(265;0.00962)	6	779	+			192					B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Silent	SNP	ENST00000313250.5	37	c.576G>C	CCDS9605.1																																																																																				0.493	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071857.3			4	239	0	0	0	0.006214	0	4	239					C	24435536	G	C	24435536	2	2	308	1	0	0	0	0	0	0	0	1	4492	1277	45	4		4	DHRS4	14	24435536	Silent	SNP	G	TCGA-EM-A2P1-01A-11D-A202-08		24435536	82914004	11	6544											
FCGRT	2217	broad.mit.edu	37	chr19	50017183	50017183	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	accttaccgcggtgtcctcgCctgccccggggactcctgcc	11	19	0	0			TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr19:50017183C>G	ENST00000221466.5	+	3	604	c.118C>G	c.(118-120)Cct>Gct	p.P40A	FCGRT_ENST00000596975.1_Missense_Mutation_p.P40A|FCGRT_ENST00000599988.1_Intron|FCGRT_ENST00000594823.1_3'UTR|FCGRT_ENST00000426395.3_Missense_Mutation_p.P40A	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	40	Alpha-1.				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)		GGTGTCCTCGCCTGCCCCGGG	0.657																																						ENST00000221466.5																			0				endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9						c.(118-120)Cct>Gct		Fc fragment of IgG, receptor, transporter, alpha							120	120	120					19																	50017183		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.chr19:50017183C>G	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.118C>G	19.37:g.50017183C>G	ENSP00000221466:p.Pro40Ala					FCGRT_ENST00000426395.3_Missense_Mutation_p.P40A|FCGRT_ENST00000594823.1_3'UTR|FCGRT_ENST00000596975.1_Missense_Mutation_p.P40A|FCGRT_ENST00000599988.1_Intron	p.P40A	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)	3	604	+		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	40			Alpha-1.		Q5HYM5|Q9HBV7|Q9NZ19	Missense_Mutation	SNP	ENST00000221466.5	37	c.118C>G	CCDS12770.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.674899	0.29783	.	.	ENSG00000104870	ENST00000221466;ENST00000426395;ENST00000415900;ENST00000452439	T;T	0.00840	5.63;5.63	4.6	-0.698	0.11280	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.460721	0.16474	N	0.212836	T	0.01592	0.0051	M	0.85299	2.745	0.09310	N	1	B	0.25007	0.116	B	0.20384	0.029	T	0.35001	-0.9806	10	0.87932	D	0	.	4.7945	0.13265	0.0:0.4176:0.3718:0.2106	.	40	P55899	FCGRN_HUMAN	A	40	ENSP00000221466:P40A;ENSP00000410798:P40A	ENSP00000221466:P40A	P	+	1	0	FCGRT	54708995	0.009000	0.17119	0.000000	0.03702	0.100000	0.18952	0.817000	0.27281	0.140000	0.18849	0.555000	0.69702	CCT		0.657	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465267.1			49	212	0	0	0	0.00361	0	49	212					G	50017183	C	G	50017183	3	3	308	1	0	0	0	0	1	0	0	0	5786	739	26	4	124	4	FCGRT	19	50017183	Missense_Mutation	SNP	C	TCGA-EM-A2P1-01A-11D-A202-08		50017183	9111800	12	6545											
GRAMD4	23151	broad.mit.edu	37	chr22	47059056	47059056	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggagacagaggaacccCtgagcgcccgcaggtagggg	17	11	0	3	rs145387351		TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr22:47059056C>T	ENST00000406902.1	+	6	799	c.586C>T	c.(586-588)Ctg>Ttg	p.L196L	GRAMD4_ENST00000361034.3_Silent_p.L196L			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	196					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		AGAGGAACCCCTGAGCGCCCG	0.657																																						ENST00000406902.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12						c.(586-588)Ctg>Ttg		GRAM domain containing 4		C		0,4406		0,0,2203	49	56	54		586	4.8	1.0	22	dbSNP_134	54	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	GRAMD4	NM_015124.3		0,2,6500	TT,TC,CC		0.0233,0.0,0.0154		196/579	47059056	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	23151				apoptosis	integral to membrane|mitochondrial membrane		g.chr22:47059056C>T		CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"death-inducing-protein"	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.586C>T	22.37:g.47059056C>T						GRAMD4_ENST00000361034.3_Silent_p.L196L	p.L196L			Q6IC98	GRAM4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)	6	799	+		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)	196					A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Silent	SNP	ENST00000406902.1	37	c.586C>T	CCDS33672.1	.	.	.	.	.	.	.	.	.	.	C	6.902	0.535893	0.13188	0.0	2.33E-4	ENSG00000075240	ENST00000456069	T	0.45668	0.89	4.77	4.77	0.60923	.	.	.	.	.	T	0.55353	0.1915	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52056	-0.8626	5	.	.	.	-39.0416	16.1456	0.81563	0.0:1.0:0.0:0.0	.	.	.	.	L	18	ENSP00000397501:P18L	.	P	+	2	0	GRAMD4	45437720	1.000000	0.71417	1.000000	0.80357	0.490000	0.33462	3.940000	0.56599	2.602000	0.87976	0.558000	0.71614	CCT		0.657	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317969.1	NM_015124		23	102	0	0	0	0.002299	0	23	102					T	47059056	C	T	47059056	2	4	308	1	0	0	0	0	0	0	0	1	6752	680	24	2		2	GRAMD4	22	47059056	Silent	SNP	C	TCGA-EM-A2P1-01A-11D-A202-08		47059056	4245510	13	6546											
COL9A2	1298	broad.mit.edu	37	chr1	40767021	40767021	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcgatctccatccttgcCgttgattgcctggccaggcc	9	17	1	1			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr1:40767021C>T	ENST00000372748.3	-	32	1999	c.1903G>A	c.(1903-1905)Ggc>Agc	p.G635S	COL9A2_ENST00000466267.1_5'Flank	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	635	Triple-helical region 1 (COL1).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CCATCCTTGCCGTTGATTGCC	0.637																																						ENST00000372748.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22						c.(1903-1905)Ggc>Agc		collagen, type IX, alpha 2							22	28	26					1																	40767021		2197	4300	6497	SO:0001583	missense	1298				axon guidance|skeletal system development	collagen type IX		g.chr1:40767021C>T	M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.1903G>A	1.37:g.40767021C>T	ENSP00000361834:p.Gly635Ser						p.G635S	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)		32	1999	-	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	635			Triple-helical region 1 (COL1).		B2RMP9	Missense_Mutation	SNP	ENST00000372748.3	37	c.1903G>A	CCDS450.1	.	.	.	.	.	.	.	.	.	.	C	33	5.258623	0.95368	.	.	ENSG00000049089	ENST00000372748	D	0.97378	-4.36	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.98661	0.9551	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99433	1.0936	10	0.87932	D	0	.	16.2802	0.82672	0.0:1.0:0.0:0.0	.	635	Q14055	CO9A2_HUMAN	S	635	ENSP00000361834:G635S	ENSP00000361834:G635S	G	-	1	0	COL9A2	40539608	1.000000	0.71417	0.935000	0.37517	0.878000	0.50629	7.033000	0.76504	2.708000	0.92522	0.655000	0.94253	GGC		0.637	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852		7	27	0	0	0	0.004482	0	7	27					T	40767021	C	T	40767021	3	4	309	1	0	0	0	0	1	0	0	0	3708	652	23	1	170	1	COL9A2	1	40767021	Missense_Mutation	SNP	C	TCGA-EM-A2P2-01A-11D-A202-08		40767021	208483600	1	6547											
GSTM3	2947	broad.mit.edu	37	chr1	110280288	110280288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttcctaccttttccccgGcaaaccatgagaatttcccc	4	16	1	1			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr1:110280288G>A	ENST00000540225.1	-	7	768	c.458C>T	c.(457-459)gCc>gTc	p.A153V	GSTM3_ENST00000256594.3_Missense_Mutation_p.A153V|GSTM3_ENST00000361066.2_Missense_Mutation_p.A153V|GSTM3_ENST00000488824.1_5'UTR|RP4-735C1.4_ENST00000431955.1_RNA			P21266	GSTM3_HUMAN	glutathione S-transferase mu 3 (brain)	153	GST C-terminal.				cellular detoxification of nitrogen compound (GO:0070458)|establishment of blood-nerve barrier (GO:0008065)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|nitrobenzene metabolic process (GO:0018916)|response to estrogen (GO:0043627)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)|Vitamin E(DB00163)	CTTTTCCCCGGCAAACCATGA	0.433																																						ENST00000540225.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9						c.(457-459)gCc>gTc		glutathione S-transferase mu 3 (brain)	Glutathione(DB00143)						126	145	138					1																	110280288		2203	4300	6503	SO:0001583	missense	2947				establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus	cytoplasm	glutathione transferase activity|identical protein binding	g.chr1:110280288G>A	BC000088	CCDS812.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134202	ENSG00000134202	2.5.1.18	"Glutathione S-transferases / Soluble"	4635	protein-coding gene	gene with protein product		138390	"glutathione S-transferase M3 (brain)"			2345169	Standard	NM_000849		Approved	GST5	uc001dyo.2	P21266	OTTHUMG00000011640	ENST00000540225.1:c.458C>T	1.37:g.110280288G>A	ENSP00000444978:p.Ala153Val					GSTM3_ENST00000256594.3_Missense_Mutation_p.A153V|GSTM3_ENST00000361066.2_Missense_Mutation_p.A153V|GSTM3_ENST00000488824.1_5'UTR|RP4-735C1.4_ENST00000431955.1_RNA	p.A153V			P21266	GSTM3_HUMAN		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	7	768	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	153			GST C-terminal.		O60550|Q96HA3	Missense_Mutation	SNP	ENST00000540225.1	37	c.458C>T	CCDS812.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153126	0.78001	.	.	ENSG00000134202	ENST00000540225;ENST00000256594;ENST00000361066	T;T;T	0.01725	4.67;4.67;4.67	5.53	5.53	0.82687	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.01661	0.0053	L	0.39326	1.205	0.80722	D	1	B;P;B	0.42248	0.313;0.774;0.313	B;B;B	0.43194	0.09;0.411;0.09	T	0.67260	-0.5715	10	0.48119	T	0.1	2.0E-4	18.4034	0.90525	0.0:0.0:1.0:0.0	.	153;159;153	Q6FGJ9;Q59EJ5;P21266	.;.;GSTM3_HUMAN	V	153	ENSP00000444978:A153V;ENSP00000256594:A153V;ENSP00000354357:A153V	ENSP00000256594:A153V	A	-	2	0	GSTM3	110081811	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.936000	0.75892	2.871000	0.98454	0.655000	0.94253	GCC		0.433	GSTM3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032182.1	NM_000849		5	255	0	0	0	0.000602	0	5	255					A	110280288	G	A	110280288	3	1	309	1	0	0	0	0	1	0	0	0	6839	1203	42	2	231	2	GSTM3	1	110280288	Missense_Mutation	SNP	G	TCGA-EM-A2P2-01A-11D-A202-08	69513267	110280288	138970333	2	6548											
TNN	63923	broad.mit.edu	37	chr1	175048656	175048656	+	Frame_Shift_Del	DEL	C	C	-													gtgggtgccgactgcggctaCccggcctgccctgagaactg							TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr1:175048656delC	ENST00000239462.4	+	3	710	c.597delC	c.(595-597)tacfs	p.Y199fs		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	199	EGF-like 2.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ACTGCGGCTACCCGGCCTGCC	0.716																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(595-597)tafs		tenascin N							11	11	11					1																	175048656		2136	4205	6341	SO:0001589	frameshift_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175048656delC	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.597delC	1.37:g.175048656delC	ENSP00000239462:p.Tyr199fs						p.Y199fs	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	3	710	+		Breast(1374;0.000962)	199			EGF-like 2.		B9EGP3|Q5R360	Frame_Shift_Del	DEL	ENST00000239462.4	37	c.597delC	CCDS30943.1																																																																																				0.716	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		2	4						2	4	---	---	---	---	-	175048656	C	-	175048656	7	5	309	1	0	1	0	1	0	0	0	0	16320	518	18	0	603	0	TNN	1	175048656	Frame_Shift_Del	DEL	C	TCGA-EM-A2P2-01A-11D-A202-08	64768368	175048656	74201965	3	6549											
EPCAM	4072	broad.mit.edu	37	chr2	47596655	47596655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgcgcagcatggcgccccCgcaggtcctcgcgttcgggc	15	18	0	0			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr2:47596655C>T	ENST00000263735.4	+	1	369	c.11C>T	c.(10-12)cCg>cTg	p.P4L	EPCAM_ENST00000405271.1_Intron	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	4					negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|stem cell differentiation (GO:0048863)|ureteric bud development (GO:0001657)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein complex binding (GO:0032403)	p.0?(2)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						ATGGCGCCCCCGCAGGTCCTC	0.741																																						ENST00000263735.4																			3	Whole gene deletion(2)|Unknown(1)	p.0?(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(3)	endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						c.(10-12)cCg>cTg		epithelial cell adhesion molecule							5	6	6					2																	47596655		2013	4103	6116	SO:0001583	missense	4072				positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	g.chr2:47596655C>T	M33011	CCDS1833.1	2p21	2014-09-17	2008-12-16	2008-12-16	ENSG00000119888	ENSG00000119888		"CD molecules"	11529	protein-coding gene	gene with protein product		185535	"antigen identified by monoclonal antibody AUA1", "tumor-associated calcium signal transducer 1"	M4S1, MIC18, TACSTD1		8382772, 11306819	Standard	NM_002354		Approved	Ly74, TROP1, GA733-2, EGP34, EGP40, EGP-2, KSA, CD326, Ep-CAM, HEA125, KS1/4, MK-1, MH99, MOC31, 323/A3, 17-1A, TACST-1, CO-17A, ESA	uc002rvx.3	P16422	OTTHUMG00000128853	ENST00000263735.4:c.11C>T	2.37:g.47596655C>T	ENSP00000263735:p.Pro4Leu					EPCAM_ENST00000405271.1_Intron	p.P4L	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN			1	369	+			4					P18180|Q6FG26|Q6FG49|Q96C47|Q9UCD0	Missense_Mutation	SNP	ENST00000263735.4	37	c.11C>T	CCDS1833.1	.	.	.	.	.	.	.	.	.	.	c	7.618	0.676140	0.14841	.	.	ENSG00000119888	ENST00000263735;ENST00000419334	T;D	0.85013	-0.77;-1.93	3.97	1.17	0.20885	.	0.616838	0.15894	N	0.239396	T	0.73938	0.3651	L	0.46157	1.445	0.19300	N	0.999978	B	0.15719	0.014	B	0.06405	0.002	T	0.53669	-0.8406	10	0.07813	T	0.8	.	5.8814	0.18858	0.0:0.6529:0.0:0.3471	.	4	P16422	EPCAM_HUMAN	L	4	ENSP00000263735:P4L;ENSP00000389028:P4L	ENSP00000263735:P4L	P	+	2	0	EPCAM	47450159	0.006000	0.16342	0.214000	0.23707	0.133000	0.20885	0.236000	0.17967	0.042000	0.15717	-0.318000	0.08688	CCG		0.741	EPCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250792.2			2	1	0	0	0	0.004672	0	2	1					T	47596655	C	T	47596655	3	4	309	1	0	0	0	0	1	0	0	0	5162	652	23	1	13	1	EPCAM	2	47596655	Missense_Mutation	SNP	C	TCGA-EM-A2P2-01A-11D-A202-08		47596655	195602718	4	6550											
ALG3	10195	broad.mit.edu	37	chr3	183963511	183963511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccactcacacaagtggtcCggtgtcaccctgcagttggg	11	15	2	0	rs367679074		TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr3:183963511C>T	ENST00000397676.3	-	2	316	c.286G>A	c.(286-288)Gga>Aga	p.G96R	ALG3_ENST00000445626.2_Missense_Mutation_p.G48R|ALG3_ENST00000418734.2_Intron|ALG3_ENST00000463495.1_5'Flank|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000455059.1_Missense_Mutation_p.G56R	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	96					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|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)	alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925)			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACAAGTGGTCCGGTGTCACCC	0.522																																						ENST00000455059.1																			0				kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						c.(166-168)Gga>Aga		ALG3, alpha-1,3- mannosyltransferase		C	ARG/GLY,ARG/GLY	0,4158		0,0,2079	96	97	96		142,286	4.9	1.0	3		96	1,8401		0,1,4200	no	missense,missense	ALG3	NM_001006941.2,NM_005787.5	125,125	0,1,6279	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging,probably-damaging	48/391,96/439	183963511	1,12559	2079	4201	6280	SO:0001583	missense	10195				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity	g.chr3:183963511C>T	BC002839	CCDS46967.1, CCDS46968.1	3q27.3	2013-02-26	2013-02-26		ENSG00000214160	ENSG00000214160	2.4.1.258	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	23056	protein-coding gene	gene with protein product	"carbohydrate deficient glycoprotein syndrome type IV", "dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase", "dol-P-Man dependent alpha-1,3- mannosyltransferase"	608750	"asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)", "asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)"			1058125	Standard	NM_005787		Approved	NOT56L, Not56, CDGS4, D16Ertd36e	uc003fne.2	Q92685	OTTHUMG00000156823	ENST00000397676.3:c.286G>A	3.37:g.183963511C>T	ENSP00000380793:p.Gly96Arg					EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000418734.2_Intron|ALG3_ENST00000445626.2_Missense_Mutation_p.G48R|ALG3_ENST00000397676.3_Missense_Mutation_p.G96R	p.G56R			Q92685	ALG3_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		2	620	-	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		96					A8JZZ6|Q9BT71	Missense_Mutation	SNP	ENST00000397676.3	37	c.166G>A	CCDS46968.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458059	0.84317	0.0	1.19E-4	ENSG00000214160	ENST00000397676;ENST00000445626;ENST00000455059	D;D;D	0.94000	-3.33;-3.33;-3.33	4.93	4.93	0.64822	.	0.000000	0.85682	U	0.000000	D	0.97711	0.9249	H	0.95224	3.64	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.81914	0.942;0.995;0.983	D	0.98821	1.0747	10	0.87932	D	0	-2.1164	16.8688	0.86036	0.0:1.0:0.0:0.0	.	48;56;96	A8JZZ6;C9J7S5;Q92685	.;.;ALG3_HUMAN	R	96;48;56	ENSP00000380793:G96R;ENSP00000402744:G48R;ENSP00000397613:G56R	ENSP00000380793:G96R	G	-	1	0	ALG3	185446205	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	7.531000	0.81973	2.562000	0.86427	0.462000	0.41574	GGA		0.522	ALG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346033.1	NM_005787		19	24	0	0	0	0.001523	0	19	24					T	183963511	C	T	183963511	3	4	309	1	0	0	0	0	1	0	0	0	520	661	23	1	1062	1	ALG3	3	183963511	Missense_Mutation	SNP	C	TCGA-EM-A2P2-01A-11D-A202-08		183963511	14058919	5	6551											
SPON2	10417	broad.mit.edu	37	chr4	1165191	1165191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttcatcagcgcccaggcctCgccgcgctccgcaaagtcgc	10	19	2	0			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr4:1165191C>T	ENST00000290902.5	-	3	636	c.304G>A	c.(304-306)Gag>Aag	p.E102K	SPON2_ENST00000431380.1_Missense_Mutation_p.E102K	NM_012445.3	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	102	Spondin. {ECO:0000255|PROSITE- ProRule:PRU00364}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		GCCCAGGCCTCGCCGCGCTCC	0.701																																						ENST00000290902.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9						c.(304-306)Gag>Aag		spondin 2, extracellular matrix protein							24	27	26					4																	1165191		2183	4267	6450	SO:0001583	missense	10417				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding	g.chr4:1165191C>T	AB027466	CCDS3347.1	4p16.3	2008-07-29			ENSG00000159674	ENSG00000159674			11253	protein-coding gene	gene with protein product	"Mindin", "M-spondin"	605918				10512675, 15094111	Standard	NM_012445		Approved	DIL1	uc003gco.4	Q9BUD6	OTTHUMG00000089002	ENST00000290902.5:c.304G>A	4.37:g.1165191C>T	ENSP00000290902:p.Glu102Lys					SPON2_ENST00000431380.1_Missense_Mutation_p.E102K	p.E102K	NM_012445.3	NP_036577.1	Q9BUD6	SPON2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)	3	636	-			102			Spondin.		D3DVN9|Q4W5N4|Q9ULW1	Missense_Mutation	SNP	ENST00000290902.5	37	c.304G>A	CCDS3347.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.847839	0.51164	.	.	ENSG00000159674	ENST00000290902;ENST00000431380;ENST00000503765	T;T;T	0.43294	0.95;0.95;0.95	4.5	4.5	0.54988	Spondin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.45256	0.1333	L	0.51422	1.61	0.80722	D	1	P;D;D	0.67145	0.726;0.993;0.996	B;B;P	0.49597	0.223;0.365;0.616	T	0.32640	-0.9899	10	0.16420	T	0.52	.	16.7743	0.85547	0.0:1.0:0.0:0.0	.	102;102;102	D6RB12;D3DVN9;Q9BUD6	.;.;SPON2_HUMAN	K	102	ENSP00000290902:E102K;ENSP00000394832:E102K;ENSP00000424542:E102K	ENSP00000290902:E102K	E	-	1	0	SPON2	1155191	1.000000	0.71417	0.974000	0.42286	0.111000	0.19643	7.011000	0.76359	2.053000	0.61076	0.511000	0.50034	GAG		0.701	SPON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202080.2			16	74	0	0	0	0.00499	0	16	74					T	1165191	C	T	1165191	3	4	309	1	0	0	0	0	1	0	0	0	15082	893	31	1	707	1	SPON2	4	1165191	Missense_Mutation	SNP	C	TCGA-EM-A2P2-01A-11D-A202-08		1165191	189989085	6	6552											
LNX1	84708	broad.mit.edu	37	chr4	54440038	54440038	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggtccagcaaagcctgcagGcagatgtggcagatgaggtc	16	9	0	3			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr4:54440038G>C	ENST00000263925.7	-	2	446	c.132C>G	c.(130-132)tgC>tgG	p.C44W	LNX1_ENST00000504605.1_5'Flank|FIP1L1_ENST00000507166.1_Intron	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	44					protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AAGCCTGCAGGCAGATGTGGC	0.567																																						ENST00000263925.7																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32						c.(130-132)tgC>tgG		ligand of numb-protein X 1, E3 ubiquitin protein ligase							43	40	40					4																	54440038		1568	3582	5150	SO:0001583	missense	84708					cytoplasm	zinc ion binding	g.chr4:54440038G>C	AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"RING-type (C3HC4) zinc fingers"	6657	protein-coding gene	gene with protein product		609732	"ligand of numb-protein X", "ligand of numb-protein X 1"	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.132C>G	4.37:g.54440038G>C	ENSP00000263925:p.Cys44Trp					FIP1L1_ENST00000507166.1_Intron	p.C44W	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)		2	446	-	all_neural(26;0.153)		44					Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Missense_Mutation	SNP	ENST00000263925.7	37	c.132C>G	CCDS47057.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.178195	0.57692	.	.	ENSG00000072201	ENST00000263925;ENST00000513421;ENST00000510143;ENST00000512247	D;D;D;D	0.99695	-6.43;-6.43;-6.43;-6.43	5.98	2.88	0.33553	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.99799	0.9914	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97490	1.0053	10	0.87932	D	0	.	12.0885	0.53710	0.2665:0.0:0.7335:0.0	.	44	Q8TBB1	LNX1_HUMAN	W	44	ENSP00000263925:C44W;ENSP00000426445:C44W;ENSP00000421897:C44W;ENSP00000424364:C44W	ENSP00000263925:C44W	C	-	3	2	LNX1	54134795	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	2.890000	0.48609	0.847000	0.35167	0.591000	0.81541	TGC		0.567	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2			5	30	0	0	0	0.001168	0	5	30					C	54440038	G	C	54440038	3	2	309	1	0	0	0	0	1	0	0	0	8865	1195	42	4	2190	4	LNX1	4	54440038	Missense_Mutation	SNP	G	TCGA-EM-A2P2-01A-11D-A202-08	53274847	54440038	136714238	7	6553											
TBCK	93627	broad.mit.edu	37	chr4	107216253	107216253	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctgatactatacagtacctCacaggtttcctttctcgaag	6	11	3	1			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr4:107216253C>T	ENST00000273980.5	-	4	711	c.264G>A	c.(262-264)gtG>gtA	p.V88V	TBCK_ENST00000394708.2_Silent_p.V88V|TBCK_ENST00000394706.3_Silent_p.V88V|TBCK_ENST00000361687.4_Silent_p.V88V|TBCK_ENST00000432496.2_Silent_p.V88V					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						TACAGTACCTCACAGGTTTCC	0.383																																						ENST00000273980.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(262-264)gtG>gtA		TBC1 domain containing kinase							116	116	116					4																	107216253		2203	4300	6503	SO:0001819	synonymous_variant	93627					intracellular	Rab GTPase activator activity	g.chr4:107216253C>T		CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.264G>A	4.37:g.107216253C>T						TBCK_ENST00000432496.2_Silent_p.V88V|TBCK_ENST00000394706.3_Silent_p.V88V|TBCK_ENST00000394708.2_Silent_p.V88V|TBCK_ENST00000361687.4_Silent_p.V88V	p.V88V			Q8TEA7	TBCK_HUMAN			4	711	-			88			Protein kinase.			Silent	SNP	ENST00000273980.5	37	c.264G>A	CCDS54788.1																																																																																				0.383	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	NM_033115		42	71	0	0	0	0.00361	0	42	71					T	107216253	C	T	107216253	2	4	309	1	0	0	0	0	0	0	0	1	15633	813	29	2		2	TBCK	4	107216253	Silent	SNP	C	TCGA-EM-A2P2-01A-11D-A202-08	52776215	107216253	83938023	8	6554											
F2RL2	2151	broad.mit.edu	37	chr5	75914398	75914398	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaactcttcaaaagaatttGggggagctccacgaaaggtc	12	8	2	1	rs140813985		TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr5:75914398G>T	ENST00000296641.4	-	2	337	c.134C>A	c.(133-135)cCa>cAa	p.P45Q	F2RL2_ENST00000504899.1_Missense_Mutation_p.P23Q|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000274364.6_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	45					blood coagulation (GO:0007596)|metabolic process (GO:0008152)|platelet activation (GO:0030168)|response to wounding (GO:0009611)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|thrombin receptor activity (GO:0015057)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		AAAAGAATTTGGGGGAGCTCC	0.413																																						ENST00000296641.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32						c.(133-135)cCa>cAa		coagulation factor II (thrombin) receptor-like 2							85	95	92					5																	75914398		2196	4299	6495	SO:0001583	missense	2151				platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity	g.chr5:75914398G>T	U92971	CCDS4031.1, CCDS58959.1	5q13	2012-08-08			ENSG00000164220	ENSG00000164220		"GPCR / Class A : Protease activated receptors"	3539	protein-coding gene	gene with protein product	"proteinase-activated receptor-3"	601919				9087410, 9722561	Standard	NM_004101		Approved	PAR3	uc003kem.4	O00254	OTTHUMG00000102119	ENST00000296641.4:c.134C>A	5.37:g.75914398G>T	ENSP00000296641:p.Pro45Gln					F2RL2_ENST00000504899.1_Missense_Mutation_p.P23Q|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000502745.1_Intron	p.P45Q	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN		all cancers(79;4.43e-43)	2	337	-		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)	45					B2R754|B4DQ13|Q52M68|Q7Z3W3	Missense_Mutation	SNP	ENST00000296641.4	37	c.134C>A	CCDS4031.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.949273	0.00475	.	.	ENSG00000164220	ENST00000296641;ENST00000504899	T;T	0.62364	0.05;0.03	4.65	-5.18	0.02840	.	2.240730	0.02110	N	0.054707	T	0.30696	0.0773	N	0.01109	-1.01	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.32587	-0.9901	10	0.14656	T	0.56	12.5948	12.6713	0.56868	0.0666:0.0:0.2001:0.7333	.	45	O00254	PAR3_HUMAN	Q	45;23	ENSP00000296641:P45Q;ENSP00000426703:P23Q	ENSP00000296641:P45Q	P	-	2	0	F2RL2	75950154	0.000000	0.05858	0.000000	0.03702	0.265000	0.26407	-1.921000	0.01569	-0.587000	0.05890	0.563000	0.77884	CCA		0.413	F2RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219958.3			4	139	1	0	0.000602214	0.000602	0.000967193	4	139					T	75914398	G	T	75914398	3	4	309	1	0	0	0	0	1	0	0	0	5345	1348	47	4	994	4	F2RL2	5	75914398	Missense_Mutation	SNP	G	TCGA-EM-A2P2-01A-11D-A202-08		75914398	105000862	9	6555											
REV3L	5980	broad.mit.edu	37	chr6	111652902	111652902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaaaagctactccattggGggacactgtgatatcatgcc	10	10	1	1			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr6:111652902G>A	ENST00000358835.3	-	25	8465	c.8011C>T	c.(8011-8013)Ccc>Tcc	p.P2671S	REV3L_ENST00000435970.1_Missense_Mutation_p.P2593S|REV3L_ENST00000368802.3_Missense_Mutation_p.P2671S|REV3L_ENST00000368805.1_Missense_Mutation_p.P2671S			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2671					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		ACTCCATTGGGGGACACTGTG	0.373								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(7777-7779)Ccc>Tcc	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							136	132	133					6																	111652902		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111652902G>A	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.8011C>T	6.37:g.111652902G>A	ENSP00000351697:p.Pro2671Ser					REV3L_ENST00000368802.3_Missense_Mutation_p.P2671S|REV3L_ENST00000368805.1_Missense_Mutation_p.P2671S|REV3L_ENST00000358835.3_Missense_Mutation_p.P2671S	p.P2593S			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	26	8593	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	2671					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.7777C>T	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	G	33	5.193682	0.94960	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970;ENST00000543871	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	5.93	5.93	0.95920	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.246544	0.41712	D	0.000837	T	0.46444	0.1393	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.46527	-0.9185	10	0.87932	D	0	-3.5269	20.3368	0.98748	0.0:0.0:1.0:0.0	.	2671	O60673	DPOLZ_HUMAN	S	2671;2671;2671;2593;744	ENSP00000357792:P2671S;ENSP00000357795:P2671S;ENSP00000351697:P2671S;ENSP00000402003:P2593S	ENSP00000351697:P2671S	P	-	1	0	REV3L	111759595	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.352000	0.97076	2.805000	0.96524	0.655000	0.94253	CCC		0.373	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		7	129	0	0	0	0.004482	0	7	129					A	111652902	G	A	111652902	3	1	309	1	0	0	0	0	1	0	0	0	13240	1232	43	2	1417	2	REV3L	6	111652902	Missense_Mutation	SNP	G	TCGA-EM-A2P2-01A-11D-A202-08		111652902	59462165	10	6556											
THEMIS	387357	broad.mit.edu	37	chr6	128135044	128135044	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtctttgacttcgacatctaGactggggaggatgcggatta	13	7	2	2			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr6:128135044G>T	ENST00000368248.2	-	4	890	c.742C>A	c.(742-744)Cta>Ata	p.L248I	THEMIS_ENST00000368250.1_Missense_Mutation_p.L169I|THEMIS_ENST00000537166.1_Missense_Mutation_p.L213I|THEMIS_ENST00000543064.1_Missense_Mutation_p.L248I	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	248	CABIT 1.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TCGACATCTAGACTGGGGAGG	0.343																																						ENST00000368250.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						c.(505-507)Cta>Ata		thymocyte selection associated							100	108	105					6																	128135044		2202	4300	6502	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128135044G>T	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"thymocyte expressed molecule involved in selection"	613607	"chromosome 6 open reading frame 207", "chromosome 6 open reading frame 190", "thymocyte selection pathway associated"	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.742C>A	6.37:g.128135044G>T	ENSP00000357231:p.Leu248Ile					THEMIS_ENST00000537166.1_Missense_Mutation_p.L213I|THEMIS_ENST00000368248.2_Missense_Mutation_p.L248I|THEMIS_ENST00000543064.1_Missense_Mutation_p.L248I	p.L169I			Q8N1K5	THMS1_HUMAN			5	1003	-			248			CABIT 1.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.505C>A	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898330	0.52227	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166;ENST00000434358	T;T;T;T;T	0.63580	2.35;2.35;2.35;2.35;-0.05	5.59	0.512	0.16994	.	0.000000	0.64402	D	0.000003	T	0.68192	0.2974	M	0.80422	2.495	0.37282	D	0.907871	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.71192	-0.4665	10	0.72032	D	0.01	-12.7023	9.2931	0.37800	0.4537:0.0:0.5463:0.0	.	248;248	F5H1J9;Q8N1K5	.;THMS1_HUMAN	I	169;248;248;213;16	ENSP00000357233:L169I;ENSP00000439594:L248I;ENSP00000357231:L248I;ENSP00000439863:L213I;ENSP00000387740:L16I	ENSP00000357231:L248I	L	-	1	2	THEMIS	128176737	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	1.453000	0.35167	0.097000	0.17492	-0.391000	0.06502	CTA		0.343	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		42	48	1	0	1.15183e-24	0.002222	2.0349e-24	42	48					T	128135044	G	T	128135044	3	4	309	1	0	0	0	0	1	0	0	0	15857	933	33	4	1316	4	THEMIS	6	128135044	Missense_Mutation	SNP	G	TCGA-EM-A2P2-01A-11D-A202-08	16482142	128135044	42980023	11	6557											
KIAA1549	57670	broad.mit.edu	37	chr7	138597183	138597183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gattgctgtaatgatgtactCctgcacagctcttctggcca	9	11	2	1			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr7:138597183C>T	ENST00000422774.1	-	3	2950	c.2902G>A	c.(2902-2904)Gag>Aag	p.E968K	KIAA1549_ENST00000440172.1_Missense_Mutation_p.E968K|KIAA1549_ENST00000242365.4_Missense_Mutation_p.E918K			Q9HCM3	K1549_HUMAN	KIAA1549	968						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ATGATGTACTCCTGCACAGCT	0.468			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(2902-2904)Gag>Aag		KIAA1549							138	133	134					7																	138597183		2038	4209	6247	SO:0001583	missense	57670					integral to membrane		g.chr7:138597183C>T		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.2902G>A	7.37:g.138597183C>T	ENSP00000416040:p.Glu968Lys					KIAA1549_ENST00000242365.4_Missense_Mutation_p.E918K|KIAA1549_ENST00000422774.1_Missense_Mutation_p.E968K	p.E968K	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			3	2950	-			968					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.2902G>A	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.441581	0.83993	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.26223	1.76;1.76;1.75	5.38	5.38	0.77491	.	0.153934	0.43416	D	0.000576	T	0.30854	0.0778	L	0.32530	0.975	0.30689	N	0.751499	P;D	0.55800	0.954;0.973	P;P	0.53593	0.541;0.73	T	0.05886	-1.0858	10	0.30854	T	0.27	.	14.5742	0.68235	0.0:0.8428:0.1572:0.0	.	968;968	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	K	968;918;968	ENSP00000406661:E968K;ENSP00000242365:E918K;ENSP00000416040:E968K	ENSP00000242365:E918K	E	-	1	0	KIAA1549	138247723	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.458000	0.53014	2.793000	0.96121	0.655000	0.94253	GAG		0.468	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			22	43	0	0	0	0.00278	0	22	43					T	138597183	C	T	138597183	3	4	309	1	0	0	0	0	1	0	0	0	8244	864	30	2	3022	2	KIAA1549	7	138597183	Missense_Mutation	SNP	C	TCGA-EM-A2P2-01A-11D-A202-08		138597183	20541480	12	6558											
PTPRD	5789	broad.mit.edu	37	chr9	8501033	8501033	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaacttgggctggtgcaacTaatgtcttgaggaggagctg	16	6	1	1			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr9:8501033T>C	ENST00000381196.4	-	21	2392	c.1849A>G	c.(1849-1851)Agt>Ggt	p.S617G	PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.S617G|PTPRD_ENST00000356435.5_Missense_Mutation_p.S617G|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.S604G|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000358503.5_Missense_Mutation_p.S604G|PTPRD_ENST00000486161.1_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	617	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTGGTGCAACTAATGTCTTGA	0.403										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(1849-1851)Agt>Ggt		protein tyrosine phosphatase, receptor type, D							102	93	96					9																	8501033		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8501033T>C	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1849A>G	9.37:g.8501033T>C	ENSP00000370593:p.Ser617Gly	TSP Lung(15;0.13)				PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.S617G|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.S617G|PTPRD_ENST00000360074.4_Missense_Mutation_p.S604G|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.S604G	p.S617G	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	21	2392	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	617			Fibronectin type-III 4.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.1849A>G	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	T	13.72	2.320125	0.41096	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26	5.76	5.76	0.90799	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.260790	0.44483	D	0.000446	T	0.60932	0.2307	M	0.80847	2.515	0.38099	D	0.937206	P;B;B	0.35033	0.481;0.011;0.082	B;B;B	0.33121	0.138;0.024;0.158	T	0.65977	-0.6037	9	.	.	.	.	16.0668	0.80887	0.0:0.0:0.0:1.0	.	604;617;617	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	G	617;617;604;604;617	ENSP00000370593:S617G;ENSP00000348812:S617G;ENSP00000353187:S604G;ENSP00000351293:S604G;ENSP00000438164:S617G	.	S	-	1	0	PTPRD	8491033	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.889000	0.56212	2.192000	0.70111	0.459000	0.35465	AGT		0.403	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			3	56	0	0	0	0.004672	0	3	56					C	8501033	T	C	8501033	3	2	309	1	0	0	0	0	1	0	0	0	12799	1522	53	3	4049	3	PTPRD	9	8501033	Missense_Mutation	SNP	T	TCGA-EM-A2P2-01A-11D-A202-08		8501033	132712398	13	6559											
MPDZ	8777	broad.mit.edu	37	chr9	13138104	13138104	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgacctttctccagttcaAtcatatgcagctcgcctgtt	6	12	3	1			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr9:13138104A>G	ENST00000319217.7	-	29	4299	c.4052T>C	c.(4051-4053)aTt>aCt	p.I1351T	MPDZ_ENST00000538841.1_Missense_Mutation_p.I210T|MPDZ_ENST00000381015.4_Missense_Mutation_p.I1351T|MPDZ_ENST00000541093.1_5'Flank|MPDZ_ENST00000540202.1_5'UTR|MPDZ_ENST00000381022.2_Missense_Mutation_p.I1351T|MPDZ_ENST00000541718.1_Missense_Mutation_p.I1351T|MPDZ_ENST00000536827.1_Missense_Mutation_p.I1318T|MPDZ_ENST00000447879.1_Missense_Mutation_p.I1318T|MPDZ_ENST00000546205.1_Missense_Mutation_p.I1365T	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1351	PDZ 8. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CTCCAGTTCAATCATATGCAG	0.403																																						ENST00000319217.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(4051-4053)aTt>aCt		multiple PDZ domain protein							73	69	70					9																	13138104		1891	4121	6012	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13138104A>G	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.4052T>C	9.37:g.13138104A>G	ENSP00000320006:p.Ile1351Thr					MPDZ_ENST00000536827.1_Missense_Mutation_p.I1318T|MPDZ_ENST00000540202.1_5'UTR|MPDZ_ENST00000541718.1_Missense_Mutation_p.I1351T|MPDZ_ENST00000546205.1_Missense_Mutation_p.I1365T|MPDZ_ENST00000381022.2_Missense_Mutation_p.I1351T|MPDZ_ENST00000538841.1_Missense_Mutation_p.I210T|MPDZ_ENST00000381015.4_Missense_Mutation_p.I1351T|MPDZ_ENST00000447879.1_Missense_Mutation_p.I1318T	p.I1351T	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	29	4299	-			1351			PDZ 8.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.4052T>C		.	.	.	.	.	.	.	.	.	.	A	26.6	4.753081	0.89753	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205;ENST00000433359	T;T;T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.72	5.72	0.89469	.	0.000000	0.47455	D	0.000223	T	0.69611	0.3130	M	0.87097	2.86	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.976;0.998;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.967;0.995;0.999;1.0;0.999	T	0.74777	-0.3550	10	0.56958	D	0.05	.	15.999	0.80275	1.0:0.0:0.0:0.0	.	1318;210;56;1318;1231;1351	B7ZMI4;B7ZB24;B4DGX5;O75970-3;E7EPZ1;O75970-2	.;.;.;.;.;.	T	1351;1351;1351;287;210;1318;1318;1351;1231;1365;173	ENSP00000320006:I1351T;ENSP00000439807:I1351T;ENSP00000370410:I1351T;ENSP00000444230:I287T;ENSP00000444717:I210T;ENSP00000444151:I1318T;ENSP00000415208:I1318T;ENSP00000370403:I1351T;ENSP00000446358:I1365T;ENSP00000389705:I173T	ENSP00000320006:I1351T	I	-	2	0	MPDZ	13128104	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.300000	0.96151	2.176000	0.68965	0.528000	0.53228	ATT		0.403	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		13	16	0	0	0	0.004007	0	13	16					G	13138104	A	G	13138104	3	3	309	1	0	0	0	0	1	0	0	0	9722	101	4	3	2145	3	MPDZ	9	13138104	Missense_Mutation	SNP	A	TCGA-EM-A2P2-01A-11D-A202-08	4637071	13138104	128075327	14	6560											
COL27A1	85301	broad.mit.edu	37	chr9	117052336	117052336	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgtggcccttgatttttcAgggaccaaagggaaagcaag	12	8	1	1			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr9:117052336A>G	ENST00000356083.3	+	46	4597		c.e46-1			NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1						extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.?(2)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TTGATTTTTCAGGGACCAAAG	0.627																																						ENST00000356083.3																			2	Unknown(2)	p.?(2)	prostate(1)|kidney(1)	central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.e46-1		collagen, type XXVII, alpha 1							42	48	46					9																	117052336		2203	4300	6503	SO:0001630	splice_region_variant	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117052336A>G	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.4207-1A>G	9.37:g.117052336A>G								NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			46	4597	+								Q66K43|Q96JF7	Splice_Site	SNP	ENST00000356083.3	37		CCDS6802.1	.	.	.	.	.	.	.	.	.	.	A	18.45	3.625794	0.66901	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8826	0.46948	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL27A1	116092157	1.000000	0.71417	0.941000	0.38009	0.929000	0.56500	5.131000	0.64751	1.824000	0.53156	0.402000	0.26972	.		0.627	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888	Intron	3	67	0	0	0	0.000248	0	3	67					G	117052336	A	G	117052336	5	3	309	1	0	0	0	0	0	0	1	0	3685	202	7	3	4387	3	COL27A1	9	117052336	Splice_Site	SNP	A	TCGA-EM-A2P2-01A-11D-A202-08	103914232	117052336	24161095	15	6561											
CLRN3	119467	broad.mit.edu	37	chr10	129676574	129676575	+	Missense_Mutation	DNP	TC	TC	AA													cgagtatccgtaactgtgggTcgttcctttactggtggttg					rs550245323		TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr10:129676574_129676575TC>AA	ENST00000368671.3	-	3	681_682	c.519_520GA>TT	c.(517-522)acGAcc>acTTcc	p.T174S		NM_152311.3	NP_689524.1	Q8NCR9	CLRN3_HUMAN	clarin 3	174						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				TAACTGTGGGTCGTTCCTTTAC	0.45																																						ENST00000368671.3																			0				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						c.(520-522)Acc>Tcc|c.(517-519)acG>acT		clarin 3																																				SO:0001583	missense	119467					integral to membrane		g.chr10:129676574T>A|g.chr10:129676575C>A	BC029478	CCDS7656.1	10q26.2	2006-11-24	2006-11-23	2006-11-23	ENSG00000180745	ENSG00000180745			20795	protein-coding gene	gene with protein product			"transmembrane protein 12"	TMEM12		12145752, 12080385	Standard	NM_152311		Approved	MGC32871, USH3AL1	uc001lka.1	Q8NCR9	OTTHUMG00000019253	ENST00000368671.3:c.519_520delinsAA	10.37:g.129676574_129676575delinsAA	ENSP00000357660:p.Thr174Ser						p.T174S|p.T173T	NM_152311.3	NP_689524.1	Q8NCR9	CLRN3_HUMAN			3	682|681	-		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)	174|173					Q6MZX8	Missense_Mutation|Silent	SNP	ENST00000368671.3	37	c.520A>T|c.519G>T	CCDS7656.1																																																																																				0.45	CLRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050987.1	NM_152311		61|60	96	0|1	0	0|4.67498e-28	0.00361	0|8.54393e-28	60	96					AA	129676575	TC	AA	129676574	3	1	309	1	0	0	0	0	1	0	0	0	3559	1667	58	5	164	5	CLRN3	10	129676574	Missense_Mutation	DNP	TC	TCGA-EM-A2P2-01A-11D-A202-08		129676574	5858173	16	6562											
LRP4	4038	broad.mit.edu	37	chr11	46920980	46920980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctttgcagtcggtgtcacCgtcgcagtaccaatgctcag	10	12	3	0	rs201585639	byFrequency	TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr11:46920980C>T	ENST00000378623.1	-	5	747	c.505G>A	c.(505-507)Ggt>Agt	p.G169S		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	169	LDL-receptor class A 4. {ECO:0000255|PROSITE-ProRule:PRU00124}.				dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TCGGTGTCACCGTCGCAGTAC	0.582													C|||	3	0.000599042	0.0015	0.0014	5008	,	,		22776	0		0	False		,,,				2504	0					ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(505-507)Ggt>Agt		low density lipoprotein receptor-related protein 4		C	SER/GLY	2,4400	4.2+/-10.8	0,2,2199	182	141	155		505	5.6	0.4	11		155	0,8598		0,0,4299	yes	missense	LRP4	NM_002334.3	56	0,2,6498	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	169/1906	46920980	2,12998	2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46920980C>T	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.505G>A	11.37:g.46920980C>T	ENSP00000367888:p.Gly169Ser						p.G169S	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	5	747	-			169			LDL-receptor class A 4.		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.505G>A	CCDS31478.1	4	0.0018315018315018315	1	0.0020325203252032522	1	0.0027624309392265192	1	0.0017482517482517483	1	0.0013192612137203166	C	28.0	4.883292	0.91740	4.54E-4	0.0	ENSG00000134569	ENST00000378623;ENST00000534404	D;D	0.96774	-4.12;-4.12	5.55	5.55	0.83447	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97660	0.9233	M	0.78344	2.41	0.58432	D	0.999999	D;D	0.69078	0.991;0.997	P;P	0.58577	0.651;0.841	D	0.97595	1.0119	10	0.51188	T	0.08	.	19.5068	0.95121	0.0:1.0:0.0:0.0	.	214;169	C9JRN7;O75096	.;LRP4_HUMAN	S	169;120	ENSP00000367888:G169S;ENSP00000434763:G120S	ENSP00000367888:G169S	G	-	1	0	LRP4	46877556	0.960000	0.32886	0.365000	0.25901	0.975000	0.68041	3.816000	0.55658	2.621000	0.88768	0.561000	0.74099	GGT		0.582	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		5	166	0	0	0	0.001168	0	5	166					T	46920980	C	T	46920980	3	4	309	1	0	0	0	0	1	0	0	0	8959	652	23	1	5348	1	LRP4	11	46920980	Missense_Mutation	SNP	C	TCGA-EM-A2P2-01A-11D-A202-08		46920980	88085536	17	6563											
FGD4	121512	broad.mit.edu	37	chr12	32793220	32793220	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttctttaggacgtcagagCccaggccaccattccacttc	7	14	2	1			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr12:32793220C>T	ENST00000427716.2	+	17	2478	c.2054C>T	c.(2053-2055)gCc>gTc	p.A685V	FGD4_ENST00000525053.1_Missense_Mutation_p.A797V|FGD4_ENST00000546442.1_Missense_Mutation_p.A592V|FGD4_ENST00000534526.2_Missense_Mutation_p.A822V|FGD4_ENST00000531134.1_Missense_Mutation_p.A770V	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	685	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					GACGTCAGAGCCCAGGCCACC	0.493																																						ENST00000427716.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27						c.(2053-2055)gCc>gTc		FYVE, RhoGEF and PH domain containing 4							137	133	135					12																	32793220		2203	4300	6503	SO:0001583	missense	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32793220C>T	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19125	protein-coding gene	gene with protein product		611104	"FGD1 family, member 4"			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.2054C>T	12.37:g.32793220C>T	ENSP00000394487:p.Ala685Val					FGD4_ENST00000546442.1_Missense_Mutation_p.A592V|FGD4_ENST00000534526.2_Missense_Mutation_p.A822V|FGD4_ENST00000531134.1_Missense_Mutation_p.A770V|FGD4_ENST00000525053.1_Missense_Mutation_p.A797V	p.A685V	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN			17	2478	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		685			PH 2.		Q6ULS2|Q8TCP6	Missense_Mutation	SNP	ENST00000427716.2	37	c.2054C>T	CCDS8727.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.661138	0.88154	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000427716;ENST00000546442;ENST00000525053	T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63	5.31	5.31	0.75309	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.51477	D	0.000086	T	0.43411	0.1246	M	0.84219	2.685	0.80722	D	1	P;P;D	0.89917	0.933;0.933;1.0	P;P;D	0.75484	0.897;0.897;0.986	T	0.43572	-0.9383	10	0.59425	D	0.04	-11.148	18.9773	0.92742	0.0:1.0:0.0:0.0	.	797;770;685	E9PJX4;B7Z493;Q96M96	.;.;FGD4_HUMAN	V	822;770;685;592;797	ENSP00000449273:A822V;ENSP00000431323:A770V;ENSP00000394487:A685V;ENSP00000446695:A592V;ENSP00000433666:A797V	ENSP00000394487:A685V	A	+	2	0	FGD4	32684487	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.288000	0.78691	2.470000	0.83445	0.563000	0.77884	GCC		0.493	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		60	111	0	0	0	0.00361	0	60	111					T	32793220	C	T	32793220	3	4	309	1	0	0	0	0	1	0	0	0	5835	739	26	2	2112	2	FGD4	12	32793220	Missense_Mutation	SNP	C	TCGA-EM-A2P2-01A-11D-A202-08		32793220	101058675	18	6564											
CCNT1	904	broad.mit.edu	37	chr12	49087252	49087252	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggatgatcaaacacagccCctccagtctcttcagagggt	9	13	3	2			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr12:49087252C>A	ENST00000261900.3	-	9	1967	c.1745G>T	c.(1744-1746)gGg>gTg	p.G582V		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	582	Ser-rich.				cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						AAACACAGCCCCTCCAGTCTC	0.458																																						ENST00000261900.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						c.(1744-1746)gGg>gTg		cyclin T1							76	79	78					12																	49087252		2203	4300	6503	SO:0001583	missense	904				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	g.chr12:49087252C>A	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.1745G>T	12.37:g.49087252C>A	ENSP00000261900:p.Gly582Val						p.G582V	NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN			9	1967	-			582			Ser-rich.		A9XU13|E7EX76|O60581	Missense_Mutation	SNP	ENST00000261900.3	37	c.1745G>T	CCDS8766.1	.	.	.	.	.	.	.	.	.	.	C	8.877	0.950606	0.18431	.	.	ENSG00000129315	ENST00000261900	T	0.17854	2.25	4.53	2.57	0.30868	.	0.624514	0.15089	N	0.281179	T	0.09512	0.0234	N	0.08118	0	0.27924	N	0.938125	B	0.15141	0.012	B	0.16289	0.015	T	0.24476	-1.0159	10	0.23302	T	0.38	-0.4412	14.1178	0.65167	0.0:0.5547:0.4453:0.0	.	582	O60563	CCNT1_HUMAN	V	582	ENSP00000261900:G582V	ENSP00000261900:G582V	G	-	2	0	CCNT1	47373519	0.019000	0.18553	0.770000	0.31555	0.882000	0.50991	1.089000	0.30890	0.542000	0.28846	0.561000	0.74099	GGG		0.458	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		41	46	1	0	1.07121e-22	0.006999	1.83142e-22	41	46					A	49087252	C	A	49087252	3	1	309	1	0	0	0	0	1	0	0	0	2934	623	22	4	439	4	CCNT1	12	49087252	Missense_Mutation	SNP	C	TCGA-EM-A2P2-01A-11D-A202-08	16294032	49087252	84764643	19	6565											
COL4A2	1284	broad.mit.edu	37	chr13	111160356	111160356	+	Frame_Shift_Del	DEL	T	T	-													accctggtgatgtctgctacTatgccagccggaacgacaag							TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr13:111160356delT	ENST00000360467.5	+	47	4975	c.4669delT	c.(4669-4671)tatfs	p.Y1557fs	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1557	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGTCTGCTACTATGCCAGCCG	0.622																																						ENST00000360467.5																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4669-4671)atfs		collagen, type IV, alpha 2							78	87	84					13																	111160356		2179	4284	6463	SO:0001589	frameshift_variant	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111160356delT	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.4669delT	13.37:g.111160356delT	ENSP00000353654:p.Tyr1557fs					COL4A2-AS1_ENST00000417970.2_RNA	p.Y1557fs	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		47	4975	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	1557			Collagen IV NC1.		Q14052|Q548C3|Q5VZA9|Q66K23	Frame_Shift_Del	DEL	ENST00000360467.5	37	c.4669delT	CCDS41907.1																																																																																				0.622	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		57	103						57	103	---	---	---	---	-	111160356	T	-	111160356	7	5	309	1	0	1	0	1	0	0	0	0	3690	1522	53	0	4851	0	COL4A2	13	111160356	Frame_Shift_Del	DEL	T	TCGA-EM-A2P2-01A-11D-A202-08		111160356	4009522	20	6566											
CEP152	22995	broad.mit.edu	37	chr15	49052457	49052457	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgagcattttgcacagctaTttctacctgtaggacattgc	8	9	1	1			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr15:49052457T>C	ENST00000380950.2	-	19	2756	c.2569A>G	c.(2569-2571)Ata>Gta	p.I857V	CEP152_ENST00000399334.3_Missense_Mutation_p.I857V|CEP152_ENST00000325747.5_Missense_Mutation_p.I764V	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	857					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TGCACAGCTATTTCTACCTGT	0.378																																						ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(2569-2571)Ata>Gta		centrosomal protein 152kDa							116	107	110					15																	49052457		1854	4107	5961	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49052457T>C	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.2569A>G	15.37:g.49052457T>C	ENSP00000370337:p.Ile857Val					CEP152_ENST00000325747.5_Missense_Mutation_p.I764V|CEP152_ENST00000399334.3_Missense_Mutation_p.I857V	p.I857V	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	19	2756	-		all_lung(180;0.0428)	857					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.2569A>G	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	T	6.395	0.441075	0.12164	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.50813	0.74;0.73;0.74	4.66	-0.456	0.12190	.	0.796636	0.11934	N	0.515418	T	0.25457	0.0619	N	0.11427	0.14	0.21220	N	0.999756	B;B;B	0.15141	0.002;0.001;0.012	B;B;B	0.08055	0.003;0.001;0.002	T	0.18650	-1.0330	10	0.27785	T	0.31	-2.0E-4	9.9434	0.41593	0.0:0.5788:0.0:0.4212	.	764;857;857	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	V	857;764;857	ENSP00000370337:I857V;ENSP00000321000:I764V;ENSP00000382271:I857V	ENSP00000321000:I764V	I	-	1	0	CEP152	46839749	0.347000	0.24853	0.990000	0.47175	0.565000	0.35776	0.061000	0.14366	0.009000	0.14813	-0.408000	0.06270	ATA		0.378	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		35	60	0	0	0	0.007835	0	35	60					C	49052457	T	C	49052457	3	2	309	1	0	0	0	0	1	0	0	0	3248	1493	52	3	2427	3	CEP152	15	49052457	Missense_Mutation	SNP	T	TCGA-EM-A2P2-01A-11D-A202-08		49052457	53478935	21	6567											
WDR59	79726	broad.mit.edu	37	chr16	74919593	74919593	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggacaggagacaaacttcaAcacttcagctcgcttctctc	7	13	3	1			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr16:74919593A>C	ENST00000262144.6	-	25	2777	c.2647T>G	c.(2647-2649)Ttg>Gtg	p.L883V		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	883										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						ACAAACTTCAACACTTCAGCT	0.458																																						ENST00000262144.6																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						c.(2647-2649)Ttg>Gtg		WD repeat domain 59							123	110	115					16																	74919593		2198	4300	6498	SO:0001583	missense	79726							g.chr16:74919593A>C	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"WD repeat domain containing"	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.2647T>G	16.37:g.74919593A>C	ENSP00000262144:p.Leu883Val						p.L883V	NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN			25	2777	-			883					B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP	ENST00000262144.6	37	c.2647T>G	CCDS32488.1	.	.	.	.	.	.	.	.	.	.	A	14.78	2.637314	0.47049	.	.	ENSG00000103091	ENST00000262144	T	0.73897	-0.79	5.36	0.973	0.19710	.	0.000000	0.85682	D	0.000000	T	0.81456	0.4826	M	0.72353	2.195	0.58432	D	0.999997	D;D	0.67145	0.993;0.996	D;D	0.75484	0.967;0.986	T	0.78802	-0.2061	10	0.41790	T	0.15	-14.4767	9.1438	0.36919	0.3511:0.0:0.6489:0.0	.	883;328	Q6PJI9;Q6PJI9-4	WDR59_HUMAN;.	V	883	ENSP00000262144:L883V	ENSP00000262144:L883V	L	-	1	2	WDR59	73477094	1.000000	0.71417	1.000000	0.80357	0.361000	0.29550	1.998000	0.40796	0.626000	0.30322	-1.145000	0.01858	TTG		0.458	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		27	60	0	0	0	0.007291	0	27	60					C	74919593	A	C	74919593	3	2	309	1	0	0	0	0	1	0	0	0	17305	40	2	5	285	5	WDR59	16	74919593	Missense_Mutation	SNP	A	TCGA-EM-A2P2-01A-11D-A202-08		74919593	15435160	22	6568											
DNAH9	1770	broad.mit.edu	37	chr17	11607602	11607602	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggaaggctatgagagtgCcatgaaggactattataaga	14	4	0	3			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr17:11607602C>T	ENST00000262442.4	+	25	5302	c.5234C>T	c.(5233-5235)gCc>gTc	p.A1745V	DNAH9_ENST00000454412.2_Missense_Mutation_p.A1745V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1745	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.A1745V(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TATGAGAGTGCCATGAAGGAC	0.522																																						ENST00000262442.3																			1	Substitution - Missense(1)	p.A1745V(1)	central_nervous_system(1)	NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(5233-5235)gCc>gTc		dynein, axonemal, heavy chain 9							119	112	114					17																	11607602		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11607602C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.5234C>T	17.37:g.11607602C>T	ENSP00000262442:p.Ala1745Val					DNAH9_ENST00000454412.2_Missense_Mutation_p.A1745V	p.A1745V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	25	5302	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1745			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.5234C>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649581	0.87958	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.30714	1.56;1.52	5.91	5.91	0.95273	.	0.062515	0.64402	D	0.000006	T	0.64505	0.2604	H	0.96080	3.765	0.80722	D	1	D	0.57899	0.981	P	0.58454	0.839	T	0.73729	-0.3891	10	0.48119	T	0.1	.	15.7416	0.77901	0.0:0.8642:0.1358:0.0	.	1745	Q9NYC9	DYH9_HUMAN	V	1745;1745;327	ENSP00000262442:A1745V;ENSP00000414874:A1745V	ENSP00000262442:A1745V	A	+	2	0	DNAH9	11548327	1.000000	0.71417	0.997000	0.53966	0.919000	0.55068	5.634000	0.67833	2.813000	0.96785	0.655000	0.94253	GCC		0.522	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		7	105	0	0	0	0.001984	0	7	105					T	11607602	C	T	11607602	3	4	309	1	0	0	0	0	1	0	0	0	4608	739	26	2	5332	2	DNAH9	17	11607602	Missense_Mutation	SNP	C	TCGA-EM-A2P2-01A-11D-A202-08		11607602	69587608	23	6569											
MCOLN1	57192	broad.mit.edu	37	chr19	7593787	7593787	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaatttgtcaatggctggtaCatcctgctcgtcaccagcga	10	11	2	0			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr19:7593787C>A	ENST00000264079.6	+	9	1190	c.1065C>A	c.(1063-1065)taC>taA	p.Y355*		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	355					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ATGGCTGGTACATCCTGCTCG	0.622																																						ENST00000264079.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1063-1065)taC>taA		mucolipin 1							84	71	76					19																	7593787		2203	4300	6503	SO:0001587	stop_gained	57192				calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity	g.chr19:7593787C>A	AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"Voltage-gated ion channels / Transient receptor potential cation channels"	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.1065C>A	19.37:g.7593787C>A	ENSP00000264079:p.Tyr355*						p.Y355*	NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN			9	1190	+			355					D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Nonsense_Mutation	SNP	ENST00000264079.6	37	c.1065C>A	CCDS12180.1	.	.	.	.	.	.	.	.	.	.	C	39	7.294467	0.98192	.	.	ENSG00000090674	ENST00000264079;ENST00000394321	.	.	.	6.07	5.04	0.67666	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.3669	0.38230	0.0:0.8403:0.0:0.1597	.	.	.	.	X	355;320	.	ENSP00000264079:Y355X	Y	+	3	2	MCOLN1	7499787	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.372000	0.44257	1.582000	0.49881	-0.140000	0.14226	TAC		0.622	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	NM_020533		7	55	1	0	6.5536e-12	0.00308	1.08544e-11	7	55					A	7593787	C	A	7593787	4	1	309	1	0	0	0	0	0	1	0	0	9395	489	17	4	1099	4	MCOLN1	19	7593787	Nonsense_Mutation	SNP	C	TCGA-EM-A2P2-01A-11D-A202-08		7593787	51535196	24	6570											
MLL4	9757	broad.mit.edu	37	chr19	36219029	36219029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgttcggctggttcgacGcccacgaccccaagtactgg	12	15	0	0			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr19:36219029G>A	ENST00000222270.7	+	19	4528	c.4528G>A	c.(4528-4530)Gcc>Acc	p.A1510T	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.A1510T	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1510					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CTGGTTCGACGCCCACGACCC	0.627																																						ENST00000420124.1																			0											c.(4528-4530)Gcc>Acc									16	17	17					19																	36219029		2002	4171	6173	SO:0001583	missense	0							g.chr19:36219029G>A	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.4528G>A	19.37:g.36219029G>A	ENSP00000222270:p.Ala1510Thr					KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Missense_Mutation_p.A1510T	p.A1510T							19	4528	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.4528G>A	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219732	0.58560	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.83837	-1.77;-1.77	5.31	5.31	0.75309	.	0.000000	0.42053	D	0.000777	D	0.85978	0.5823	L	0.40543	1.245	0.41110	D	0.985733	D	0.76494	0.999	P	0.61533	0.89	D	0.86032	0.1514	10	0.49607	T	0.09	.	16.0062	0.80363	0.0:0.0:1.0:0.0	.	1510	Q9UMN6	MLL4_HUMAN	T	1510	ENSP00000222270:A1510T;ENSP00000398837:A1510T	ENSP00000222270:A1510T	A	+	1	0	AD000671.1	40910869	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.067000	0.50010	2.765000	0.95021	0.655000	0.94253	GCC		0.627	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		7	10	0	0	0	0.004482	0	7	10					A	36219029	G	A	36219029	3	1	309	1	0	0	0	0	1	0	0	0	9623	1087	38	1	4602	1	MLL4	19	36219029	Missense_Mutation	SNP	G	TCGA-EM-A2P2-01A-11D-A202-08	28625242	36219029	22909954	25	6571											
FABP3	2170	broad.mit.edu	37	chr1	31845844	31845844	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccactagcttccaggtgccCaggaaagcgtccaccatagt	9	14	0	0			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr1:31845844C>A	ENST00000373713.2	-	1	79	c.18G>T	c.(16-18)ctG>ctT	p.L6L		NM_004102.3	NP_004093.1	P05413	FABPH_HUMAN	fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)	6					cholesterol homeostasis (GO:0042632)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid import (GO:0044539)|negative regulation of cell proliferation (GO:0008285)|phospholipid homeostasis (GO:0055091)|positive regulation of phospholipid biosynthetic process (GO:0071073)|regulation of fatty acid oxidation (GO:0046320)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasm (GO:0016528)	cytoskeletal protein binding (GO:0008092)|icosatetraenoic acid binding (GO:0050543)|long-chain fatty acid binding (GO:0036041)|long-chain fatty acid transporter activity (GO:0005324)|oleic acid binding (GO:0070538)			large_intestine(1)|lung(2)|ovary(2)	5		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149)		TCCAGGTGCCCAGGAAAGCGT	0.612																																						ENST00000373713.2																			0				large_intestine(1)|lung(2)|ovary(2)	5						c.(16-18)ctG>ctT		fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)							87	76	80					1																	31845844		2203	4300	6503	SO:0001819	synonymous_variant	2170				negative regulation of cell proliferation			g.chr1:31845844C>A	U57623	CCDS342.1	1p33-p32	2013-03-01	2003-09-10		ENSG00000121769	ENSG00000121769		"Fatty acid binding protein family"	3557	protein-coding gene	gene with protein product		134651	"fatty acid binding protein 11"	MDGI, FABP11		8661024	Standard	NM_004102		Approved	H-FABP, O-FABP	uc001bss.1	P05413	OTTHUMG00000003797	ENST00000373713.2:c.18G>T	1.37:g.31845844C>A							p.L6L	NM_004102.3	NP_004093.1	P05413	FABPH_HUMAN		STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149)	1	79	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)	6					B2RAB6|Q5VV93|Q99957	Silent	SNP	ENST00000373713.2	37	c.18G>T	CCDS342.1																																																																																				0.612	FABP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010683.1	NM_004102		4	50	1	0	1.23904e-05	0.014758	2.23027e-05	4	50					A	31845844	C	A	31845844	2	1	310	1	0	0	0	0	0	0	0	1	5358	581	21	4		4	FABP3	1	31845844	Silent	SNP	C	TCGA-EM-A2P3-01A-11D-A202-08		31845844	217404777	1	6572											
FLG	2312	broad.mit.edu	37	chr1	152285608	152285608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcttcatgatgacgtgacCctgagtgcctggtgccgtct	12	11	2	4	rs372282962		TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr1:152285608C>T	ENST00000368799.1	-	3	1789	c.1754G>A	c.(1753-1755)gGg>gAg	p.G585E	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	585	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGACGTGACCCTGAGTGCCT	0.562									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(1753-1755)gGg>gAg		filaggrin		C	GLU/GLY	1,4405		0,1,2202	387	364	372		1754	0.2	0.0	1		372	0,8600		0,0,4300	no	missense	FLG	NM_002016.1	98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	585/4062	152285608	1,13005	2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152285608C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1754G>A	1.37:g.152285608C>T	ENSP00000357789:p.Gly585Glu					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.G585E	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1789	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		585			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.1754G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	8.903	0.956800	0.18507	2.27E-4	0.0	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.02236	4.38	2.49	0.217	0.15264	.	.	.	.	.	T	0.03520	0.0101	M	0.80616	2.505	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.33879	-0.9851	9	0.33141	T	0.24	.	4.35	0.11151	0.2744:0.4844:0.2412:0.0	.	585	P20930	FILA_HUMAN	E	585;117	ENSP00000357789:G585E	ENSP00000357789:G585E	G	-	2	0	FLG	150552232	0.000000	0.05858	0.016000	0.15963	0.011000	0.07611	-0.341000	0.07811	-0.081000	0.12662	0.603000	0.83216	GGG		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		26	356	0	0	0	0.108266	0	26	356					T	152285608	C	T	152285608	3	4	310	1	0	0	0	0	1	0	0	0	5922	623	22	2	10435	2	FLG	1	152285608	Missense_Mutation	SNP	C	TCGA-EM-A2P3-01A-11D-A202-08	120439764	152285608	96965013	2	6573											
BOC	91653	broad.mit.edu	37	chr3	113005568	113005568	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagttgaagaggtggacagTcctgactcctgccaagtgag	13	10	0	4			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr3:113005568T>G	ENST00000495514.1	+	20	3908	c.3204T>G	c.(3202-3204)agT>agG	p.S1068R	BOC_ENST00000273395.4_Missense_Mutation_p.S1069R|BOC_ENST00000355385.3_Missense_Mutation_p.S1068R			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	1068					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			AGGTGGACAGTCCTGACTCCT	0.597																																						ENST00000495514.1																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(3202-3204)agT>agG		BOC cell adhesion associated, oncogene regulated							164	175	171					3																	113005568		2203	4300	6503	SO:0001583	missense	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:113005568T>G	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17173	protein-coding gene	gene with protein product	"brother of CDO", "brother of CDON", "cell adhesion associated, oncogene regulated 2"	608708	"Boc homolog (mouse)"			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.3204T>G	3.37:g.113005568T>G	ENSP00000418663:p.Ser1068Arg					BOC_ENST00000355385.3_Missense_Mutation_p.S1068R|BOC_ENST00000273395.4_Missense_Mutation_p.S1069R	p.S1068R			Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		20	3908	+			1068					A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	c.3204T>G	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	T	11.59	1.685488	0.29872	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.59083	0.29;0.3;0.29	5.51	1.89	0.25635	.	0.305004	0.34986	N	0.003528	T	0.30262	0.0759	N	0.17082	0.46	0.26177	N	0.979775	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.09377	0.004;0.003;0.001	T	0.04737	-1.0930	10	0.20046	T	0.44	.	0.7984	0.01070	0.1658:0.2688:0.1513:0.4142	.	885;1069;1068	Q9BWV1-2;Q9BWV1-3;Q9BWV1	.;.;BOC_HUMAN	R	1068;1069;1068	ENSP00000418663:S1068R;ENSP00000273395:S1069R;ENSP00000347546:S1068R	ENSP00000273395:S1069R	S	+	3	2	BOC	114488258	0.567000	0.26626	0.998000	0.56505	0.989000	0.77384	0.732000	0.26072	0.541000	0.28827	0.459000	0.35465	AGT		0.597	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		4	303	0	0	0	0.014758	0	4	303					G	113005568	T	G	113005568	3	3	310	1	0	0	0	0	1	0	0	0	1481	1664	58	5	3274	5	BOC	3	113005568	Missense_Mutation	SNP	T	TCGA-EM-A2P3-01A-11D-A202-08		113005568	85016862	3	6574											
SLC7A11	23657	broad.mit.edu	37	chr4	139157528	139157528	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacaaaagctggtaatggacCaaagacttccaaaatatatg	7	7	0	1			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr4:139157528C>A	ENST00000280612.5	-	2	634	c.355G>T	c.(355-357)Ggt>Tgt	p.G119C		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	119					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|brain development (GO:0007420)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|lens fiber cell differentiation (GO:0070306)|leukocyte migration (GO:0050900)|platelet aggregation (GO:0070527)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	cystine:glutamate antiporter activity (GO:0015327)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				Acetylcysteine(DB06151)|L-Cystine(DB00138)|Riluzole(DB00740)|Rosuvastatin(DB01098)|Sulfasalazine(DB00795)|Tauroursodeoxycholic acid(DB08834)	GGTAATGGACCAAAGACTTCC	0.338																																						ENST00000280612.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18						c.(355-357)Ggt>Tgt		solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)						92	95	94					4																	139157528		2203	4300	6503	SO:0001583	missense	23657				blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding	g.chr4:139157528C>A	AB026891	CCDS3742.1	4q28-q32	2013-05-22	2011-07-12		ENSG00000151012	ENSG00000151012		"Solute carriers"	11059	protein-coding gene	gene with protein product		607933				10206947, 12763038	Standard	XM_005262875		Approved	xCT	uc021xrw.1	Q9UPY5	OTTHUMG00000133396	ENST00000280612.5:c.355G>T	4.37:g.139157528C>A	ENSP00000280612:p.Gly119Cys						p.G119C	NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN			2	634	-	all_hematologic(180;0.166)		119					A8K2U4	Missense_Mutation	SNP	ENST00000280612.5	37	c.355G>T	CCDS3742.1	.	.	.	.	.	.	.	.	.	.	C	31	5.104630	0.94245	.	.	ENSG00000151012	ENST00000280612	D	0.91351	-2.83	5.71	5.71	0.89125	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.97297	0.9116	H	0.96777	3.88	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98130	1.0430	10	0.87932	D	0	.	19.8579	0.96771	0.0:1.0:0.0:0.0	.	119	Q9UPY5	XCT_HUMAN	C	119	ENSP00000280612:G119C	ENSP00000280612:G119C	G	-	1	0	SLC7A11	139376978	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.736000	0.84948	2.687000	0.91594	0.655000	0.94253	GGT		0.338	SLC7A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257251.2			20	49	1	0	4.35082e-09	0.055883	8.15778e-09	20	49					A	139157528	C	A	139157528	3	1	310	1	0	0	0	0	1	0	0	0	14694	594	21	4	1194	4	SLC7A11	4	139157528	Missense_Mutation	SNP	C	TCGA-EM-A2P3-01A-11D-A202-08		139157528	51996748	4	6575											
SORBS2	8470	broad.mit.edu	37	chr4	186578641	186578641	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atccctgggtaatgcggggcTttgatgactgtcactctctt	11	10	2	2			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr4:186578641T>C	ENST00000284776.7	-	6	713	c.204A>G	c.(202-204)aaA>aaG	p.K68K	SORBS2_ENST00000319471.9_Silent_p.K154K|SORBS2_ENST00000498125.1_5'Flank|SORBS2_ENST00000393528.3_Silent_p.K114K|SORBS2_ENST00000418609.1_5'Flank|SORBS2_ENST00000449407.2_Silent_p.K154K|SORBS2_ENST00000355634.5_Silent_p.K168K|SORBS2_ENST00000431808.1_Silent_p.K68K|SORBS2_ENST00000437304.2_Silent_p.K247K|SORBS2_ENST00000448662.2_Silent_p.K137K	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	68	SoHo. {ECO:0000255|PROSITE- ProRule:PRU00195}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AATGCGGGGCTTTGATGACTG	0.567																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(202-204)aaA>aaG		sorbin and SH3 domain containing 2							115	110	112					4																	186578641		2203	4300	6503	SO:0001819	synonymous_variant	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186578641T>C		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.204A>G	4.37:g.186578641T>C						SORBS2_ENST00000448662.2_Silent_p.K137K|SORBS2_ENST00000284776.7_Silent_p.K68K|SORBS2_ENST00000449407.2_Silent_p.K154K|SORBS2_ENST00000393528.3_Silent_p.K114K|SORBS2_ENST00000355634.5_Silent_p.K168K|SORBS2_ENST00000319471.9_Silent_p.K154K|SORBS2_ENST00000437304.2_Silent_p.K247K	p.K68K			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	7	767	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	68			SoHo.		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Silent	SNP	ENST00000284776.7	37	c.204A>G	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	T	10.56	1.385604	0.25031	.	.	ENSG00000154556	ENST00000438278	.	.	.	4.88	-1.58	0.08479	.	.	.	.	.	T	0.55369	0.1916	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50866	-0.8777	4	.	.	.	-26.7233	10.1656	0.42877	0.0:0.4221:0.0:0.5779	.	.	.	.	G	12	.	.	S	-	1	0	SORBS2	186815635	0.997000	0.39634	0.991000	0.47740	0.887000	0.51463	0.338000	0.19858	-0.320000	0.08640	0.460000	0.39030	AGC		0.567	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		7	43	0	0	0	0.02938	0	7	43					C	186578641	T	C	186578641	2	2	310	1	0	0	0	0	0	0	0	1	14928	1606	56	3		3	SORBS2	4	186578641	Silent	SNP	T	TCGA-EM-A2P3-01A-11D-A202-08	47421113	186578641	4575635	5	6576											
GRM6	2916	broad.mit.edu	37	chr5	178418557	178418557	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tagactgggcaatacagaccCcccctgggcgttgggggtgc	15	12	0	2			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr5:178418557C>G	ENST00000517717.1	-	4	763	c.725G>C	c.(724-726)gGg>gCg	p.G242A	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.G242A			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	242					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|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)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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)	all cancers(165;0.245)		AATACAGACCCCCCCTGGGCG	0.627																																						ENST00000231188.5																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(724-726)gGg>gCg		glutamate receptor, metabotropic 6							132	134	134					5																	178418557		2203	4300	6503	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178418557C>G	U82083	CCDS4442.1	5q35	2014-01-28						"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.725G>C	5.37:g.178418557C>G	ENSP00000430767:p.Gly242Ala					GRM6_ENST00000517717.1_Missense_Mutation_p.G242A	p.G242A	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	3	903	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	242						Missense_Mutation	SNP	ENST00000517717.1	37	c.725G>C	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036633	0.75617	.	.	ENSG00000113262	ENST00000231188;ENST00000517717	D;D	0.91521	-2.86;-2.86	5.35	4.46	0.54185	Extracellular ligand-binding receptor (1);	.	.	.	.	D	0.96024	0.8705	M	0.93197	3.39	0.50039	D	0.999845	D	0.63046	0.992	D	0.65773	0.938	D	0.96452	0.9335	9	0.54805	T	0.06	.	14.0187	0.64541	0.0:0.8472:0.1528:0.0	.	242	O15303	GRM6_HUMAN	A	242	ENSP00000231188:G242A;ENSP00000430767:G242A	ENSP00000231188:G242A	G	-	2	0	GRM6	178351163	1.000000	0.71417	0.919000	0.36401	0.993000	0.82548	7.496000	0.81526	1.367000	0.46095	0.561000	0.74099	GGG		0.627	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			46	138	0	0	0	0.048971	0	46	138					G	178418557	C	G	178418557	3	3	310	1	0	0	0	0	1	0	0	0	6801	623	22	4	1940	4	GRM6	5	178418557	Missense_Mutation	SNP	C	TCGA-EM-A2P3-01A-11D-A202-08		178418557	2496703	6	6577											
APOBEC2	10930	broad.mit.edu	37	chr6	41029581	41029583	+	In_Frame_Del	DEL	GAG	GAG	-													aggagaacttcctatactacGaggagaagttggcagacatc					rs150558136		TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr6:41029581_41029583delGAG	ENST00000244669.2	+	2	690_692	c.646_648delGAG	c.(646-648)gagdel	p.E217del		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	217					cytidine deamination (GO:0009972)|DNA demethylation (GO:0080111)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)		cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTATACTACGAGGAGAAGTTGG	0.483																																					Ovarian(118;1320 2185 8096 29684)	ENST00000244669.2																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10						c.(646-648)del		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2				1,4263		0,1,2131						-11.8	0.0			67	1,8253		0,1,4126	no	coding	APOBEC2	NM_006789.3		0,2,6257	A1A1,A1R,RR		0.0121,0.0235,0.016				2,12516				SO:0001651	inframe_deletion	10930				DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding	g.chr6:41029581_41029583delGAG	AF161698	CCDS4848.1	6p21	2008-02-05			ENSG00000124701	ENSG00000124701		"Apolipoprotein B mRNA editing enzymes"	605	protein-coding gene	gene with protein product		604797				10403781	Standard	NM_006789		Approved	ARCD1, ARP1	uc003opl.3	Q9Y235	OTTHUMG00000014670	ENST00000244669.2:c.646_648delGAG	6.37:g.41029584_41029586delGAG	ENSP00000244669:p.Glu217del						p.E217del	NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN			2	690_692	+	Ovarian(28;0.0418)|Colorectal(47;0.196)		217					B2R899|Q53F28|Q5TGU5|Q5TGU6	In_Frame_Del	DEL	ENST00000244669.2	37	c.646_648delGAG	CCDS4848.1																																																																																				0.483	APOBEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040498.1	NM_006789		34	64						34	64	---	---	---	---	-	41029583	GAG	-	41029581	7	5	310	1	0	1	0	1	0	0	0	0	788	1059	37	0	652	0	APOBEC2	6	41029581	In_Frame_Del	DEL	GAG	TCGA-EM-A2P3-01A-11D-A202-08		41029581	130085486	7	6578											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		26	34	0	0	0	0.108266	0	26	34					T	140453136	A	T	140453136	3	4	310	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A2P3-01A-11D-A202-08		140453136	18685527	8	6579											
WNK2	65268	broad.mit.edu	37	chr9	96051588	96051588	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctcccagctcccaagcccaCccctggggcccaccgtcccc	7	25	0	0	rs570121640|rs35091400		TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr9:96051588C>G	ENST00000297954.4	+	20	4663	c.4663C>G	c.(4663-4665)Ccc>Gcc	p.P1555A	WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.P1130A|WNK2_ENST00000395477.2_Missense_Mutation_p.P1518A|WNK2_ENST00000349097.3_Missense_Mutation_p.P1167A	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1555					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCCAAGCCCACCCCTGGGGCC	0.721																																						ENST00000297954.4																			0				breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(4663-4665)Ccc>Gcc		WNK lysine deficient protein kinase 2							7	9	8					9																	96051588		2165	4238	6403	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96051588C>G	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"serologically defined colon cancer antigen 43"	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.4663C>G	9.37:g.96051588C>G	ENSP00000297954:p.Pro1555Ala					WNK2_ENST00000395477.2_Missense_Mutation_p.P1518A|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.P1167A|WNK2_ENST00000427277.2_Missense_Mutation_p.P1130A	p.P1555A			Q9Y3S1	WNK2_HUMAN			20	4663	+			1555					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.4663C>G		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	16.93|16.93|16.93	3.257470|3.257470|3.257470	0.59321|0.59321|0.59321	.|.|.	.|.|.	ENSG00000165238|ENSG00000165238|ENSG00000165238	ENST00000432730;ENST00000448251;ENST00000453718|ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277|ENST00000411624	.|T;T;T;T|.	.|0.24723|.	.|1.84;1.84;1.84;1.84|.	5.32|5.32|5.32	4.41|4.41|4.41	0.53225|0.53225|0.53225	.|.|.	.|0.116446|.	.|0.64402|.	.|N|.	.|0.000014|.	T|T|T	0.64271|0.64271|0.64271	0.2583|0.2583|0.2583	L|L|L	0.58101|0.58101|0.58101	1.795|1.795|1.795	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D;B;D;D|.	.|0.71674|.	.|0.989;0.981;0.39;0.998;0.981|.	.|P;P;B;D;P|.	.|0.78314|.	.|0.889;0.777;0.054;0.991;0.76|.	T|T|T	0.62656|0.62656|0.62656	-0.6808|-0.6808|-0.6808	5|10|5	.|0.36615|.	.|T|.	.|0.2|.	.|.|.	13.4286|13.4286|13.4286	0.61042|0.61042|0.61042	0.344:0.656:0.0:0.0|0.344:0.656:0.0:0.0|0.344:0.656:0.0:0.0	.|.|.	.|1518;1513;1121;1518;1555|.	.|Q9Y3S1-2;A6PVR3;A6PVR4;F8W9F9;Q9Y3S1|.	.|.;.;.;.;WNK2_HUMAN|.	Q|A|S	1513;314;40|1555;1518;1167;1130|1121	.|ENSP00000297954:P1555A;ENSP00000378860:P1518A;ENSP00000297876:P1167A;ENSP00000411181:P1130A|.	.|ENSP00000297954:P1555A|.	H|P|T	+|+|+	3|1|2	2|0|0	WNK2|WNK2|WNK2	95091409|95091409|95091409	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.969000|0.969000|0.969000	0.41365|0.41365|0.41365	0.826000|0.826000|0.826000	0.46750|0.46750|0.46750	0.422000|0.422000|0.422000	0.21296|0.21296|0.21296	1.229000|1.229000|1.229000	0.43630|0.43630|0.43630	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	CAC|CCC|ACC		0.721	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		6	14	0	0	0	0.021553	0	6	14					G	96051588	C	G	96051588	3	3	310	1	0	0	0	0	1	0	0	0	17375	507	18	4	4626	4	WNK2	9	96051588	Missense_Mutation	SNP	C	TCGA-EM-A2P3-01A-11D-A202-08		96051588	45161843	9	6580											
KLC2	64837	broad.mit.edu	37	chr11	66033332	66033332	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccctccctcagggtttggAccccgcaagccagaccaagg	11	17	1	1			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr11:66033332A>G	ENST00000417856.1	+	13	1694	c.1451A>G	c.(1450-1452)gAc>gGc	p.D484G	KLC2_ENST00000394078.1_Intron|RAB1B_ENST00000527397.1_5'Flank|RAB1B_ENST00000311481.6_5'Flank|KLC2_ENST00000394065.2_Missense_Mutation_p.D345G|KLC2_ENST00000316924.5_Missense_Mutation_p.D484G|KLC2_ENST00000421552.1_Missense_Mutation_p.D407G|KLC2_ENST00000394067.2_Missense_Mutation_p.D484G|KLC2_ENST00000394066.2_Missense_Mutation_p.D407G|RP11-867G23.2_ENST00000533287.1_RNA|RP11-867G23.1_ENST00000530805.1_RNA	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	484					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						CAGGGTTTGGACCCCGCAAGC	0.672																																						ENST00000394065.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						c.(1033-1035)gAc>gGc		kinesin light chain 2							42	42	42					11																	66033332		2200	4294	6494	SO:0001583	missense	64837				blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr11:66033332A>G	AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"Tetratricopeptide (TTC) repeat domain containing"	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.1451A>G	11.37:g.66033332A>G	ENSP00000399403:p.Asp484Gly					KLC2_ENST00000421552.1_Missense_Mutation_p.D407G|KLC2_ENST00000316924.5_Missense_Mutation_p.D484G|KLC2_ENST00000417856.1_Missense_Mutation_p.D484G|KLC2_ENST00000394066.2_Missense_Mutation_p.D407G|KLC2_ENST00000394067.2_Missense_Mutation_p.D484G|KLC2_ENST00000394078.1_Intron	p.D345G			Q9H0B6	KLC2_HUMAN			11	2052	+			484					A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Missense_Mutation	SNP	ENST00000417856.1	37	c.1034A>G	CCDS8130.1	.	.	.	.	.	.	.	.	.	.	A	18.55	3.649343	0.67358	.	.	ENSG00000174996	ENST00000417856;ENST00000394067;ENST00000316924;ENST00000421552;ENST00000394066;ENST00000394065	T;T;T;T;T;D	0.87412	-1.44;-1.44;-1.44;-1.48;-1.48;-2.25	3.71	3.71	0.42584	.	0.000000	0.64402	D	0.000001	D	0.90410	0.6998	M	0.72894	2.215	0.58432	D	0.999996	D;D;B	0.69078	0.997;0.997;0.008	D;D;B	0.83275	0.996;0.994;0.139	D	0.87929	0.2709	10	0.07175	T	0.84	-31.4217	11.5279	0.50591	1.0:0.0:0.0:0.0	.	345;407;484	A8MZ87;A8MXL7;Q9H0B6	.;.;KLC2_HUMAN	G	484;484;484;407;407;345	ENSP00000399403:D484G;ENSP00000377631:D484G;ENSP00000314837:D484G;ENSP00000408484:D407G;ENSP00000377630:D407G;ENSP00000377629:D345G	ENSP00000314837:D484G	D	+	2	0	KLC2	65789908	0.999000	0.42202	1.000000	0.80357	0.762000	0.43233	3.905000	0.56333	1.565000	0.49641	0.402000	0.26972	GAC		0.672	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258200.1	NM_022822		3	66	0	0	0	0.004672	0	3	66					G	66033332	A	G	66033332	3	3	310	1	0	0	0	0	1	0	0	0	8334	275	10	3	1497	3	KLC2	11	66033332	Missense_Mutation	SNP	A	TCGA-EM-A2P3-01A-11D-A202-08		66033332	68973184	10	6581											
BRCA2	675	broad.mit.edu	37	chr13	32913950	32913950	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgactagctcttcacccTgcaaaaataaaaatgcagcc	6	11	2	1			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr13:32913950T>C	ENST00000380152.3	+	11	5691	c.5458T>C	c.(5458-5460)Tgc>Cgc	p.C1820R	BRCA2_ENST00000544455.1_Missense_Mutation_p.C1820R			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1820					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			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		Lung SC(185;0.0262)		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)		CTCTTCACCCTGCAAAAATAA	0.353			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	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	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 2			"L, E"		"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.(5458-5460)Tgc>Cgc	Homologous recombination	breast cancer 2, early onset							64	70	68					13																	32913950		2203	4300	6503	SO:0001583	missense	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	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	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.chr13:32913950T>C	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.5458T>C	13.37:g.32913950T>C	ENSP00000369497:p.Cys1820Arg	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.C1820R	p.C1820R	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)	11	5685	+		Lung SC(185;0.0262)	1820					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.5458T>C	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	T	7.566	0.665725	0.14710	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00686	5.85;5.85	5.24	-0.553	0.11815	.	0.585491	0.17926	N	0.157322	T	0.00936	0.0031	M	0.65975	2.015	0.09310	N	0.999992	B	0.16396	0.017	B	0.15052	0.012	T	0.44787	-0.9305	10	0.25751	T	0.34	.	5.1647	0.15079	0.123:0.2858:0.0:0.5912	.	1820	P51587	BRCA2_HUMAN	R	1820	ENSP00000369497:C1820R;ENSP00000439902:C1820R	ENSP00000369497:C1820R	C	+	1	0	BRCA2	31811950	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.103000	0.10940	0.126000	0.18424	0.533000	0.62120	TGC		0.353	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		3	95	0	0	0	0.009096	0	3	95					C	32913950	T	C	32913950	3	2	310	1	0	0	0	0	1	0	0	0	1499	1580	55	3	5496	3	BRCA2	13	32913950	Missense_Mutation	SNP	T	TCGA-EM-A2P3-01A-11D-A202-08		32913950	82255928	11	6582											
PYGO1	26108	broad.mit.edu	37	chr15	55839051	55839051	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggcccaaagttaaaagcatGaggtcgattaaaacccatgc	9	9	0	1			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr15:55839051G>A	ENST00000302000.6	-	3	524	c.430C>T	c.(430-432)Cat>Tat	p.H144Y	PYGO1_ENST00000563719.1_Missense_Mutation_p.H144Y	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	144					hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|spermatid nucleus differentiation (GO:0007289)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		TTAAAAGCATGAGGTCGATTA	0.423																																						ENST00000302000.6																			0				endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27						c.(430-432)Cat>Tat		pygopus family PHD finger 1							103	100	101					15																	55839051		2193	4292	6485	SO:0001583	missense	26108				Wnt receptor signaling pathway	nucleus	zinc ion binding	g.chr15:55839051G>A	AF457207	CCDS10155.1	15q21.1	2013-10-09	2013-10-09		ENSG00000171016	ENSG00000171016		"Zinc fingers, PHD-type"	30256	protein-coding gene	gene with protein product		606902	"pygopus homolog 1 (Drosophila)"			11988739	Standard	NM_015617		Approved		uc002adf.1	Q9Y3Y4	OTTHUMG00000132009	ENST00000302000.6:c.430C>T	15.37:g.55839051G>A	ENSP00000302327:p.His144Tyr					PYGO1_ENST00000563719.1_Missense_Mutation_p.H144Y	p.H144Y	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN		all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)	3	524	-			144					A7Y2D6	Missense_Mutation	SNP	ENST00000302000.6	37	c.430C>T	CCDS10155.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960698	0.53400	.	.	ENSG00000171016	ENST00000302000;ENST00000401688	T	0.47528	0.84	5.09	5.09	0.68999	.	0.129398	0.51477	D	0.000097	T	0.43322	0.1242	L	0.27053	0.805	0.46298	D	0.998974	D;D	0.53885	0.963;0.963	P;P	0.49999	0.628;0.528	T	0.40289	-0.9571	10	0.62326	D	0.03	-17.9948	11.3578	0.49625	0.0829:0.0:0.9171:0.0	.	144;144	A7Y2D6;Q9Y3Y4	.;PYGO1_HUMAN	Y	144	ENSP00000302327:H144Y	ENSP00000302327:H144Y	H	-	1	0	PYGO1	53626343	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.493000	0.60341	2.513000	0.84729	0.585000	0.79938	CAT		0.423	PYGO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254977.2	NM_015617		30	52	0	0	0	0.034045	0	30	52					A	55839051	G	A	55839051	3	1	310	1	0	0	0	0	1	0	0	0	12863	1290	45	2	833	2	PYGO1	15	55839051	Missense_Mutation	SNP	G	TCGA-EM-A2P3-01A-11D-A202-08		55839051	46692341	12	6583											
CUEDC1	404093	broad.mit.edu	37	chr17	55962647	55962647	+	Frame_Shift_Del	DEL	G	G	-													tcatagacgccgccgctgctGccaccgccctccaggttcat							TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr17:55962647delG	ENST00000577830.1	-	2	692	c.279delC	c.(277-279)ggcfs	p.G93fs	CUEDC1_ENST00000407144.2_Frame_Shift_Del_p.G93fs|CUEDC1_ENST00000360238.2_Frame_Shift_Del_p.G93fs|CUEDC1_ENST00000577840.1_Intron	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	93										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						CGCCGCTGCTGCCACCGCCCT	0.642																																						ENST00000577830.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(277-279)ggfs		CUE domain containing 1							39	43	41					17																	55962647		2202	4299	6501	SO:0001589	frameshift_variant	404093							g.chr17:55962647delG	AK000746	CCDS11599.1	17q23.2	2004-03-16				ENSG00000180891			31350	protein-coding gene	gene with protein product							Standard	NM_001271875		Approved		uc002ive.2	Q9NWM3		ENST00000577830.1:c.279delC	17.37:g.55962647delG	ENSP00000462717:p.Gly93fs					CUEDC1_ENST00000577840.1_Intron|CUEDC1_ENST00000360238.2_Frame_Shift_Del_p.G93fs|CUEDC1_ENST00000407144.2_Frame_Shift_Del_p.G93fs	p.G93fs	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN			2	692	-			93					D3DTZ2|Q9NWD0	Frame_Shift_Del	DEL	ENST00000577830.1	37	c.279delC	CCDS11599.1																																																																																				0.642	CUEDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443305.1	NM_017949		40	71						40	71	---	---	---	---	-	55962647	G	-	55962647	7	5	310	1	0	1	0	1	0	0	0	0	4052	1306	46	0	917	0	CUEDC1	17	55962647	Frame_Shift_Del	DEL	G	TCGA-EM-A2P3-01A-11D-A202-08		55962647	25232563	13	6584											
SOX12	6666	broad.mit.edu	37	chr20	306862	306862	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaggcggagcggctgcggctCaagcacatggcggattaccc	16	12	1	0			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr20:306862C>T	ENST00000342665.2	+	1	624	c.294C>T	c.(292-294)ctC>ctT	p.L98L	RP5-1103G7.4_ENST00000414676.1_RNA|SOX12_ENST00000544632.1_Silent_p.L98L|RP5-1103G7.4_ENST00000442637.1_RNA	NM_006943.2	NP_008874.2	O15370	SOX12_HUMAN	SRY (sex determining region Y)-box 12	98					cell fate commitment (GO:0045165)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord development (GO:0021510)	nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	DNA binding (GO:0003677)|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 transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GGCTGCGGCTCAAGCACATGG	0.701																																						ENST00000342665.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2						c.(292-294)ctC>ctT		SRY (sex determining region Y)-box 12							14	16	15					20																	306862		2200	4289	6489	SO:0001819	synonymous_variant	6666				cell fate commitment|spinal cord development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|transcription regulatory region sequence-specific DNA binding	g.chr20:306862C>T	U35612	CCDS12995.1	20p13	2008-07-28	2002-07-22	2002-07-26	ENSG00000177732	ENSG00000177732		"SRY (sex determining region Y)-boxes"	11198	protein-coding gene	gene with protein product		601947	"SRY (sex determining region Y)-box 22"	SOX22		9215677	Standard	NM_006943		Approved		uc002wdh.4	O15370	OTTHUMG00000031623	ENST00000342665.2:c.294C>T	20.37:g.306862C>T						RP5-1103G7.4_ENST00000442637.1_RNA|SOX12_ENST00000544632.1_Silent_p.L98L	p.L98L	NM_006943.2	NP_008874.2	O15370	SOX12_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		1	624	+		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	98					Q5D038|Q9NUD4	Silent	SNP	ENST00000342665.2	37	c.294C>T	CCDS12995.1																																																																																				0.701	SOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077435.2	NM_006943		3	13	0	0	0	0.004672	0	3	13					T	306862	C	T	306862	2	4	310	1	0	0	0	0	0	0	0	1	14943	813	29	2		2	SOX12	20	306862	Silent	SNP	C	TCGA-EM-A2P3-01A-11D-A202-08		306862	62718658	14	6585											
PAK7	57144	broad.mit.edu	37	chr20	9546574	9546574	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttctcgtctctgttgcttcCggaggtccattttcttcact	8	12	4	0			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr20:9546574C>T	ENST00000378429.3	-	6	1994	c.1448G>A	c.(1447-1449)cGg>cAg	p.R483Q	PAK7_ENST00000378423.1_Missense_Mutation_p.R483Q|PAK7_ENST00000353224.5_Missense_Mutation_p.R483Q	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	483	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R483Q(2)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CTGTTGCTTCCGGAGGTCCAT	0.438																																						ENST00000378429.3																			2	Substitution - Missense(2)	p.R483Q(2)	large_intestine(1)|central_nervous_system(1)	NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81						c.(1447-1449)cGg>cAg		p21 protein (Cdc42/Rac)-activated kinase 7							267	248	255					20																	9546574		2203	4300	6503	SO:0001583	missense	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9546574C>T	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"p21(CDKN1A)-activated kinase 7"			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1448G>A	20.37:g.9546574C>T	ENSP00000367686:p.Arg483Gln					PAK7_ENST00000378423.1_Missense_Mutation_p.R483Q|PAK7_ENST00000353224.5_Missense_Mutation_p.R483Q	p.R483Q	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		6	1994	-			483			Protein kinase.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	c.1448G>A	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	C	34	5.345104	0.95807	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.65916	-0.18;-0.18;-0.18	5.29	5.29	0.74685	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	0.85682	D	0.000000	T	0.60753	0.2293	N	0.25485	0.75	0.80722	D	1	D;D	0.56035	0.974;0.974	P;P	0.51135	0.66;0.66	T	0.58470	-0.7631	9	.	.	.	.	18.9233	0.92534	0.0:1.0:0.0:0.0	.	483;483	B0AZM9;Q9P286	.;PAK7_HUMAN	Q	483;483;483;431	ENSP00000367686:R483Q;ENSP00000322957:R483Q;ENSP00000367679:R483Q	.	R	-	2	0	PAK7	9494574	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	7.818000	0.86416	2.452000	0.82932	0.460000	0.39030	CGG		0.438	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			26	170	0	0	0	0.108266	0	26	170					T	9546574	C	T	9546574	3	4	310	1	0	0	0	0	1	0	0	0	11405	652	23	1	735	1	PAK7	20	9546574	Missense_Mutation	SNP	C	TCGA-EM-A2P3-01A-11D-A202-08	9239712	9546574	53478946	15	6586											
IL17REL	400935	broad.mit.edu	37	chr22	50436469	50436469	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccttcaggcagagctgGggctgggtgtccaccagcgg	15	13	2	1			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr22:50436469G>A	ENST00000389983.2	-	11	1068	c.804C>T	c.(802-804)ccC>ccT	p.P268P	IL17REL_ENST00000341280.5_Silent_p.P268P	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	268										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GGCAGAGCTGGGGCTGGGTGT	0.692																																						ENST00000389983.2																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6						c.(802-804)ccC>ccT		interleukin 17 receptor E-like							32	35	34					22																	50436469		2200	4283	6483	SO:0001819	synonymous_variant	400935							g.chr22:50436469G>A	AK123987	CCDS33679.1	22q13.33	2009-01-13			ENSG00000188263	ENSG00000188263			33808	protein-coding gene	gene with protein product		613414					Standard	NM_001001694		Approved	FLJ41993	uc003bje.1	Q6ZVW7	OTTHUMG00000150242	ENST00000389983.2:c.804C>T	22.37:g.50436469G>A						IL17REL_ENST00000341280.5_Silent_p.P268P	p.P268P	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	11	1068	-		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)	268					A6NCN4|A6PVC1	Silent	SNP	ENST00000389983.2	37	c.804C>T	CCDS33679.1																																																																																				0.692	IL17REL-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317011.1	NM_001001694		14	52	0	0	0	0.038395	0	14	52					A	50436469	G	A	50436469	2	1	310	1	0	0	0	0	0	0	0	1	7644	1219	43	2		2	IL17REL	22	50436469	Silent	SNP	G	TCGA-EM-A2P3-01A-11D-A202-08		50436469	868097	16	6587											
PI4K2B	55300	broad.mit.edu	37	chr4	25265420	25265420	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccttattaaaatagctgcaAttgataatggtctagcattt	6	6	1	1			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr4:25265420A>G	ENST00000264864.6	+	7	1216	c.1027A>G	c.(1027-1029)Att>Gtt	p.I343V	PI4K2B_ENST00000512921.1_Missense_Mutation_p.I247V	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	343	PI3K/PI4K.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				AATAGCTGCAATTGATAATGG	0.303																																						ENST00000264864.6																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15						c.(1027-1029)Att>Gtt		phosphatidylinositol 4-kinase type 2 beta							116	122	120					4																	25265420		2203	4295	6498	SO:0001583	missense	55300					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding	g.chr4:25265420A>G	AK001967	CCDS3433.1	4p15.31	2009-05-07			ENSG00000038210	ENSG00000038210			18215	protein-coding gene	gene with protein product		612101				11923287	Standard	NM_018323		Approved	PI4KIIB, FLJ11105, PIK42B	uc003grk.2	Q8TCG2	OTTHUMG00000128564	ENST00000264864.6:c.1027A>G	4.37:g.25265420A>G	ENSP00000264864:p.Ile343Val					PI4K2B_ENST00000512921.1_Missense_Mutation_p.I247V	p.I343V	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN			7	1216	+		Breast(46;0.173)	343			PI3K/PI4K.		Q9NUW2	Missense_Mutation	SNP	ENST00000264864.6	37	c.1027A>G	CCDS3433.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.269363	0.80469	.	.	ENSG00000038210	ENST00000512921;ENST00000264864;ENST00000537420	D;D	0.83992	-1.79;-1.79	4.87	4.87	0.63330	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.93232	0.7844	H	0.94462	3.54	0.80722	D	1	D	0.71674	0.998	D	0.87578	0.998	D	0.94771	0.7945	10	0.62326	D	0.03	-17.2387	14.4565	0.67420	1.0:0.0:0.0:0.0	.	343	Q8TCG2	P4K2B_HUMAN	V	247;343;312	ENSP00000423373:I247V;ENSP00000264864:I343V	ENSP00000264864:I343V	I	+	1	0	PI4K2B	24874518	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.287000	0.95975	1.822000	0.53115	0.460000	0.39030	ATT		0.303	PI4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250415.1	NM_018323		41	50	0	0	0	0.002852	0	41	50					G	25265420	A	G	25265420	3	3	311	1	0	0	0	0	1	0	0	0	11872	101	4	3	1053	3	PI4K2B	4	25265420	Missense_Mutation	SNP	A	TCGA-EM-A3AI-01A-11D-A202-08		25265420	165888856	1	6588											
CDH9	1007	broad.mit.edu	37	chr5	26890658	26890658	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacggtccatatcagtatgCcgatcaacagagtacctggc	9	11	2	1			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr5:26890658C>T	ENST00000231021.4	-	8	1441	c.1269G>A	c.(1267-1269)cgG>cgA	p.R423R		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	423	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TATCAGTATGCCGATCAACAG	0.388																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(1267-1269)cgG>cgA		cadherin 9, type 2 (T1-cadherin)							85	86	86					5																	26890658		2203	4300	6503	SO:0001819	synonymous_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26890658C>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1269G>A	5.37:g.26890658C>T							p.R423R	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			8	1441	-			423			Cadherin 4.		Q3B7I5	Silent	SNP	ENST00000231021.4	37	c.1269G>A	CCDS3893.1																																																																																				0.388	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		4	120	0	0	0	0.000248	0	4	120					T	26890658	C	T	26890658	2	4	311	1	0	0	0	0	0	0	0	1	3117	726	26	2		2	CDH9	5	26890658	Silent	SNP	C	TCGA-EM-A3AI-01A-11D-A202-08		26890658	154024602	2	6589											
GPX8	493869	broad.mit.edu	37	chr5	54456042	54456042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagcctcttgcagcttacCcgctaaaatgttccgggccc	10	14	1	0			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr5:54456042C>T	ENST00000503787.1	+	1	97	c.22C>T	c.(22-24)Ccg>Tcg	p.P8S	GPX8_ENST00000515370.1_Missense_Mutation_p.P8S|GPX8_ENST00000296734.6_Missense_Mutation_p.P8S|CDC20B_ENST00000331730.3_Intron|CDC20B_ENST00000334206.5_Intron|CDC20B_ENST00000322374.6_Intron|CDC20B_ENST00000296733.1_Intron|GPX8_ENST00000506123.1_3'UTR|CDC20B_ENST00000381375.2_Intron	NM_001008397.2	NP_001008398.2	Q8TED1	GPX8_HUMAN	glutathione peroxidase 8 (putative)	8					response to oxidative stress (GO:0006979)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	glutathione peroxidase activity (GO:0004602)|peroxidase activity (GO:0004601)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)	11					Glutathione(DB00143)	TGCAGCTTACCCGCTAAAATG	0.448																																						ENST00000296734.6																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)	11						c.(22-24)Ccg>Tcg		glutathione peroxidase 8 (putative)	Glutathione(DB00143)						77	77	77					5																	54456042		2203	4300	6503	SO:0001583	missense	493869				response to oxidative stress	integral to membrane	glutathione peroxidase activity	g.chr5:54456042C>T	BC029424	CCDS34156.1	5q11.2	2008-09-29				ENSG00000164294			33100	protein-coding gene	gene with protein product							Standard	NM_001008397		Approved	UNQ847, EPLA847	uc003jpq.2	Q8TED1		ENST00000503787.1:c.22C>T	5.37:g.54456042C>T	ENSP00000423822:p.Pro8Ser					CDC20B_ENST00000322374.6_Intron|CDC20B_ENST00000381375.2_Intron|GPX8_ENST00000506123.1_3'UTR|CDC20B_ENST00000334206.5_Intron|CDC20B_ENST00000331730.3_Intron|CDC20B_ENST00000296733.1_Intron|GPX8_ENST00000515370.1_Missense_Mutation_p.P8S|GPX8_ENST00000503787.1_Missense_Mutation_p.P8S	p.P8S			Q8TED1	GPX8_HUMAN			1	46	+			8						Missense_Mutation	SNP	ENST00000503787.1	37	c.22C>T	CCDS34156.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126677	0.77549	.	.	ENSG00000164294	ENST00000503787;ENST00000296734;ENST00000515370	T;T	0.04970	3.52;3.64	5.93	5.04	0.67666	.	0.047935	0.85682	N	0.000000	T	0.07279	0.0184	N	0.19112	0.55	0.43555	D	0.995869	B;B;B	0.30542	0.039;0.284;0.018	B;B;B	0.40165	0.076;0.321;0.02	T	0.39375	-0.9617	10	0.52906	T	0.07	.	11.4456	0.50120	0.0:0.8511:0.0:0.1489	.	8;8;8	E7ETY7;B4DPY0;Q8TED1	.;.;GPX8_HUMAN	S	8	ENSP00000423822:P8S;ENSP00000427466:P8S	ENSP00000296734:P8S	P	+	1	0	GPX8	54491799	0.803000	0.28956	0.128000	0.21923	0.890000	0.51754	1.205000	0.32308	1.438000	0.47492	0.655000	0.94253	CCG		0.448	GPX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369717.1	NM_001008397		45	40	0	0	0	0.00361	0	45	40					T	54456042	C	T	54456042	3	4	311	1	0	0	0	0	1	0	0	0	6746	623	22	2	24	2	GPX8	5	54456042	Missense_Mutation	SNP	C	TCGA-EM-A3AI-01A-11D-A202-08	27565384	54456042	126459218	3	6590											
PCSK1	5122	broad.mit.edu	37	chr5	95735729	95735729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctccaggtcctggggtcaGctaaatccaccagagctttg	10	13	1	1			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr5:95735729G>A	ENST00000311106.3	-	10	1595	c.1358C>T	c.(1357-1359)gCt>gTt	p.A453V	PCSK1_ENST00000513085.1_5'UTR|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.A406V	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	453					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	CCTGGGGTCAGCTAAATCCAC	0.463																																						ENST00000311106.3																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36						c.(1357-1359)gCt>gTt		proprotein convertase subtilisin/kexin type 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						108	101	104					5																	95735729		2203	4300	6503	SO:0001583	missense	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95735729G>A		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"prohormone convertase 3", "prohormone convertase 1", "neuroendocrine convertase 1", "proprotein convertase 1"	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.1358C>T	5.37:g.95735729G>A	ENSP00000308024:p.Ala453Val					PCSK1_ENST00000508626.1_Missense_Mutation_p.A406V|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR	p.A453V	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	10	1595	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	453					B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	ENST00000311106.3	37	c.1358C>T	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750754	0.89753	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	D;D	0.81996	-1.56;-1.56	5.48	5.48	0.80851	Galactose-binding domain-like (1);Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.045719	0.85682	D	0.000000	D	0.88959	0.6579	M	0.73962	2.25	0.80722	D	1	D;P	0.71674	0.998;0.955	P;B	0.55011	0.766;0.236	D	0.88943	0.3381	10	0.51188	T	0.08	-16.3135	19.3158	0.94213	0.0:0.0:1.0:0.0	.	406;453	E9PHA1;P29120	.;NEC1_HUMAN	V	453;406	ENSP00000308024:A453V;ENSP00000421600:A406V	ENSP00000308024:A453V	A	-	2	0	PCSK1	95761485	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	9.192000	0.94947	2.730000	0.93505	0.650000	0.86243	GCT		0.463	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		3	91	0	0	0	0.000248	0	3	91					A	95735729	G	A	95735729	3	1	311	1	0	0	0	0	1	0	0	0	11600	971	34	2	923	2	PCSK1	5	95735729	Missense_Mutation	SNP	G	TCGA-EM-A3AI-01A-11D-A202-08	41279687	95735729	85179531	4	6591											
PRKAG2	51422	broad.mit.edu	37	chr7	151573629	151573629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgaacgcctcttctggctgGcatttttcttgccgccgctc	10	15	3	0			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr7:151573629G>A	ENST00000287878.4	-	1	581	c.77C>T	c.(76-78)gCc>gTc	p.A26V	PRKAG2-AS1_ENST00000467458.1_RNA|PRKAG2-AS1_ENST00000464464.1_RNA	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	26					ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	CTTCTGGCTGGCATTTTTCTT	0.607																																						ENST00000287878.4																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26						c.(76-78)gCc>gTc		protein kinase, AMP-activated, gamma 2 non-catalytic subunit							76	79	78					7																	151573629		2203	4300	6503	SO:0001583	missense	51422				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding	g.chr7:151573629G>A	AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"AMPK gamma2"	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.77C>T	7.37:g.151573629G>A	ENSP00000287878:p.Ala26Val						p.A26V	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	1	581	-	all_neural(206;0.187)	all_hematologic(28;0.0605)	26					Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Missense_Mutation	SNP	ENST00000287878.4	37	c.77C>T	CCDS5928.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.941899	0.34283	.	.	ENSG00000106617	ENST00000287878	D	0.84298	-1.83	4.01	2.17	0.27698	.	1.157260	0.06365	N	0.712480	T	0.70684	0.3252	N	0.08118	0	0.09310	N	0.999999	B;B	0.19200	0.034;0.002	B;B	0.22601	0.04;0.003	T	0.57888	-0.7733	10	0.33940	T	0.23	.	5.4414	0.16511	0.1154:0.2254:0.6591:0.0	.	26;26	Q8NCK6;Q9UGJ0	.;AAKG2_HUMAN	V	26	ENSP00000287878:A26V	ENSP00000287878:A26V	A	-	2	0	PRKAG2	151204562	0.570000	0.26651	0.021000	0.16686	0.977000	0.68977	1.476000	0.35420	0.349000	0.23975	0.449000	0.29647	GCC		0.607	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348440.2	NM_016203		4	150	0	0	0	0.001168	0	4	150					A	151573629	G	A	151573629	3	1	311	1	0	0	0	0	1	0	0	0	12501	1203	42	2	1696	2	PRKAG2	7	151573629	Missense_Mutation	SNP	G	TCGA-EM-A3AI-01A-11D-A202-08		151573629	7565034	5	6592											
NCAPG2	54892	broad.mit.edu	37	chr7	158448053	158448053	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctgaagatggatgctcAggcgacagtggagaccaaag	15	7	1	3			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr7:158448053A>G	ENST00000409423.1	-	21	2655	c.2483T>C	c.(2482-2484)cTg>cCg	p.L828P	NCAPG2_ENST00000541468.1_Missense_Mutation_p.L329P|NCAPG2_ENST00000275830.10_Missense_Mutation_p.L620P|NCAPG2_ENST00000449727.2_Missense_Mutation_p.L828P|NCAPG2_ENST00000409339.3_Missense_Mutation_p.L828P|NCAPG2_ENST00000356309.3_Missense_Mutation_p.L828P	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	828					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		ATGGATGCTCAGGCGACAGTG	0.522																																						ENST00000409339.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39						c.(2482-2484)cTg>cCg		non-SMC condensin II complex, subunit G2							142	158	153					7																	158448053		2081	4218	6299	SO:0001583	missense	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158448053A>G	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"leucine zipper protein 5"	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.2483T>C	7.37:g.158448053A>G	ENSP00000386569:p.Leu828Pro					NCAPG2_ENST00000449727.2_Missense_Mutation_p.L828P|NCAPG2_ENST00000275830.10_Missense_Mutation_p.L620P|NCAPG2_ENST00000409423.1_Missense_Mutation_p.L828P|NCAPG2_ENST00000356309.3_Missense_Mutation_p.L828P|NCAPG2_ENST00000541468.1_Missense_Mutation_p.L329P	p.L828P			Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	20	2596	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	828					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	ENST00000409423.1	37	c.2483T>C	CCDS43686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.32|17.32	3.360034|3.360034	0.61403|0.61403	.|.	.|.	ENSG00000146918|ENSG00000146918	ENST00000541468;ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000545393;ENST00000449727|ENST00000441982	T;T;T;T;T;T|.	0.57907|.	0.37;0.41;0.41;0.46;0.38;0.38|.	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	0.126462|.	0.50627|.	D|.	0.000107|.	T|.	0.69735|.	0.3144|.	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;0.988;1.0|.	D;D;P;D|.	0.73380|.	0.98;0.973;0.819;0.956|.	T|.	0.68720|.	-0.5334|.	10|.	0.87932|.	D|.	0|.	-8.5922|-8.5922	15.0346|15.0346	0.71734|0.71734	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	828;271;620;828|.	Q86XI2-2;B4DHE5;E7EUH9;Q86XI2|.	.;.;.;CNDG2_HUMAN|.	P|R	329;828;828;620;828;271;828|630	ENSP00000442337:L329P;ENSP00000348657:L828P;ENSP00000386569:L828P;ENSP00000275830:L620P;ENSP00000387007:L828P;ENSP00000388326:L828P|.	ENSP00000275830:L620P|.	L|X	-|-	2|1	0|0	NCAPG2|NCAPG2	158140814|158140814	1.000000|1.000000	0.71417|0.71417	0.629000|0.629000	0.29254|0.29254	0.190000|0.190000	0.23558|0.23558	8.240000|8.240000	0.89813|0.89813	1.964000|1.964000	0.57103|0.57103	0.459000|0.459000	0.35465|0.35465	CTG|TGA		0.522	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		4	481	0	0	0	0.000602	0	4	481					G	158448053	A	G	158448053	3	3	311	1	0	0	0	0	1	0	0	0	10208	188	7	3	984	3	NCAPG2	7	158448053	Missense_Mutation	SNP	A	TCGA-EM-A3AI-01A-11D-A202-08	6874424	158448053	690610	6	6593											
CSMD3	114788	broad.mit.edu	37	chr8	113529419	113529419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttcgagtcccattcatggGgacccctgggtcacgacacg	11	13	2	0			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr8:113529419G>A	ENST00000297405.5	-	28	4844	c.4600C>T	c.(4600-4602)Ccc>Tcc	p.P1534S	CSMD3_ENST00000352409.3_Missense_Mutation_p.P1534S|CSMD3_ENST00000455883.2_Missense_Mutation_p.P1430S|CSMD3_ENST00000343508.3_Missense_Mutation_p.P1494S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1534	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P1534T(1)		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						CCATTCATGGGGACCCCTGGG	0.428										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			1	Substitution - Missense(1)	p.P1534T(1)	lung(1)	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.(4600-4602)Ccc>Tcc		CUB and Sushi multiple domains 3							65	59	61					8																	113529419		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113529419G>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.4600C>T	8.37:g.113529419G>A	ENSP00000297405:p.Pro1534Ser	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.P1494S|CSMD3_ENST00000455883.2_Missense_Mutation_p.P1430S|CSMD3_ENST00000352409.3_Missense_Mutation_p.P1534S	p.P1534S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			28	4844	-			1534			Sushi 8.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.4600C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558741	0.86231	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	4.56	4.56	0.56223	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	D	0.83294	0.5223	M	0.94101	3.495	0.43317	D	0.99533	D;D;B	0.59767	0.982;0.986;0.431	P;D;B	0.65323	0.891;0.934;0.219	D	0.87676	0.2544	10	0.54805	T	0.06	.	17.5002	0.87728	0.0:0.0:1.0:0.0	.	1430;1534;1494	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	S	1494;1534;874;1430;1534	ENSP00000345799:P1494S;ENSP00000297405:P1534S;ENSP00000341558:P874S;ENSP00000412263:P1430S;ENSP00000343124:P1534S	ENSP00000297405:P1534S	P	-	1	0	CSMD3	113598595	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.560000	0.98139	2.339000	0.79563	0.585000	0.79938	CCC		0.428	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		3	32	0	0	0	0.004672	0	3	32					A	113529419	G	A	113529419	3	1	311	1	0	0	0	0	1	0	0	0	3946	1232	43	2	6699	2	CSMD3	8	113529419	Missense_Mutation	SNP	G	TCGA-EM-A3AI-01A-11D-A202-08		113529419	32834603	7	6594											
TG	7038	broad.mit.edu	37	chr8	133885318	133885318	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgtttaggtccaaggagcTgtgaaataagaaatcgtcgt	11	5	0	2			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr8:133885318T>G	ENST00000220616.4	+	5	530	c.490T>G	c.(490-492)Tgt>Ggt	p.C164G	TG_ENST00000377869.1_Missense_Mutation_p.C164G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	164	Thyroglobulin type-1 3. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCCAAGGAGCTGTGAAATAAG	0.448																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(490-492)Tgt>Ggt		thyroglobulin							75	72	73					8																	133885318		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133885318T>G	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.490T>G	8.37:g.133885318T>G	ENSP00000220616:p.Cys164Gly					TG_ENST00000377869.1_Missense_Mutation_p.C164G	p.C164G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	5	530	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	164			Thyroglobulin type-1 3.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.490T>G	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.395684	0.83011	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	D;D	0.96830	-4.14;-4.14	5.84	5.84	0.93424	Thyroglobulin type-1 (5);	0.000000	0.64402	D	0.000001	D	0.97766	0.9267	M	0.72894	2.215	0.58432	D	0.999991	D	0.89917	1.0	D	0.87578	0.998	D	0.98574	1.0647	10	0.87932	D	0	.	15.3856	0.74699	0.0:0.0:0.0:1.0	.	164	P01266	THYG_HUMAN	G	164	ENSP00000367100:C164G;ENSP00000220616:C164G	ENSP00000220616:C164G	C	+	1	0	TG	133954500	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.184000	0.77705	2.234000	0.73211	0.459000	0.35465	TGT		0.448	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		5	36	0	0	0	0.001168	0	5	36					G	133885318	T	G	133885318	3	3	311	1	0	0	0	0	1	0	0	0	15810	1580	55	5	508	5	TG	8	133885318	Missense_Mutation	SNP	T	TCGA-EM-A3AI-01A-11D-A202-08	20355899	133885318	12478704	8	6595											
CTTN	2017	broad.mit.edu	37	chr11	70282508	70282508	+	3'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacttgggtcccggagtgCccgtgaagcgtgtttttgct	16	9	0	1			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr11:70282508C>T	ENST00000301843.8	+	0	3099				CTTN_ENST00000376561.3_Silent_p.C633C|CTTN_ENST00000346329.3_3'UTR	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)		TCCCGGAGTGCCCGTGAAGCG	0.532																																						ENST00000376561.3																			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.(1897-1899)tgC>tgT		cortactin							234	226	228					11																	70282508		873	1985	2858	SO:0001624	3_prime_UTR_variant	2017					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	g.chr11:70282508C>T	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.*1240C>T	11.37:g.70282508C>T						CTTN_ENST00000346329.3_3'UTR|CTTN_ENST00000301843.8_3'UTR	p.C633C	NM_001184740.1	NP_001171669.1	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)	19	2070	+			0					Q8N707|Q96H99	Silent	SNP	ENST00000301843.8	37	c.1899C>T	CCDS41680.1																																																																																				0.532	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565		4	176	0	0	0	0.000602	0	4	176					T	70282508	C	T	70282508	1	4	311	0	1	0	0	0	0	0	0	0	4044	747	26	2		2	CTTN	11	70282508	3'UTR	SNP	C	TCGA-EM-A3AI-01A-11D-A202-08		70282508	64724008	9	6596											
GPR133	283383	broad.mit.edu	37	chr12	131484927	131484927	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgtcattttgtccacctttaGaccttcttaaaagccgtggg	8	10	2	1			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr12:131484927G>C	ENST00000261654.5	+	9	1525		c.e9-1		GPR133_ENST00000376682.4_5'Flank|GPR133_ENST00000535015.1_Splice_Site	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133						G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCCACCTTTAGACCTTCTTAA	0.478																																						ENST00000261654.5																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.e9-1		G protein-coupled receptor 133							186	168	174					12																	131484927		2203	4300	6503	SO:0001630	splice_region_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131484927G>C	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.967-1G>C	12.37:g.131484927G>C						GPR133_ENST00000535015.1_Splice_Site		NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	9	1525	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)							B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Splice_Site	SNP	ENST00000261654.5	37		CCDS9272.1	.	.	.	.	.	.	.	.	.	.	G	9.520	1.107972	0.20714	.	.	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000544673;ENST00000545900	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8088	0.69977	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPR133	130050880	1.000000	0.71417	0.693000	0.30195	0.017000	0.09413	4.924000	0.63418	2.251000	0.74343	0.609000	0.83330	.		0.478	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827	Intron	28	95	0	0	0	0.008361	0	28	95					C	131484927	G	C	131484927	5	2	311	1	0	0	0	0	0	0	1	0	6643	956	33	4	1000	4	GPR133	12	131484927	Splice_Site	SNP	G	TCGA-EM-A3AI-01A-11D-A202-08		131484927	2366968	10	6597											
EDDM3B	64184	broad.mit.edu	37	chr14	21238577	21238577	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaactggatggatcgcttcCgaaatgcatatgtatgggtc	11	8	0	0	rs201632508		TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr14:21238577C>T	ENST00000326783.3	+	2	366	c.268C>T	c.(268-270)Cga>Tga	p.R90*		NM_022360.4	NP_071755.1	P56851	EP3B_HUMAN	epididymal protein 3B	90						extracellular region (GO:0005576)				central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						GGATCGCTTCCGAAATGCATA	0.408																																						ENST00000326783.3																			0				central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						c.(268-270)Cga>Tga		epididymal protein 3B							105	98	100					14																	21238577		2203	4300	6503	SO:0001587	stop_gained	64184				spermatid development	extracellular region		g.chr14:21238577C>T	X76386	CCDS9557.1	14q11.1	2010-03-19	2010-01-27	2010-01-27	ENSG00000181552	ENSG00000181552			19223	protein-coding gene	gene with protein product		611582	"family with sequence similarity 12, member B (epididymal)"	FAM12B		7514008	Standard	NM_022360		Approved	HE3-BETA	uc001vyd.3	P56851	OTTHUMG00000029583	ENST00000326783.3:c.268C>T	14.37:g.21238577C>T	ENSP00000314810:p.Arg90*						p.R90*	NM_022360.4	NP_071755.1	P56851	EP3B_HUMAN			2	366	+			90					A0PK89	Nonsense_Mutation	SNP	ENST00000326783.3	37	c.268C>T	CCDS9557.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.431521	0.43122	.	.	ENSG00000181552	ENST00000326783	.	.	.	3.98	-1.49	0.08718	.	0.864385	0.09817	N	0.751944	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.9707	0.09452	0.336:0.4103:0.2537:0.0	.	.	.	.	X	90	.	ENSP00000314810:R90X	R	+	1	2	EDDM3B	20308417	0.064000	0.20934	0.001000	0.08648	0.003000	0.03518	0.033000	0.13754	-0.166000	0.10890	-0.535000	0.04281	CGA		0.408	EDDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073745.2			58	63	0	0	0	0.00361	0	58	63					T	21238577	C	T	21238577	4	4	311	1	0	0	0	0	0	1	0	0	4910	644	23	1	270	1	EDDM3B	14	21238577	Nonsense_Mutation	SNP	C	TCGA-EM-A3AI-01A-11D-A202-08		21238577	86110963	11	6598											
AHNAK2	113146	broad.mit.edu	37	chr14	105409977	105409977	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggctcctggggcctcgacGtccacctccacgctgggcag	13	16	0	0	rs569298803	byFrequency	TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr14:105409977G>A	ENST00000333244.5	-	7	11930	c.11811C>T	c.(11809-11811)gaC>gaT	p.D3937D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3937						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)			GGGCCTCGACGTCCACCTCCA	0.597													.|||	4	0.000798722	0.0023	0	5008	,	,		18962	0.001		0	False		,,,				2504	0					ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(11809-11811)gaC>gaT		AHNAK nucleoprotein 2							151	165	160					14																	105409977		1980	4147	6127	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105409977G>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.11811C>T	14.37:g.105409977G>A						AHNAK2_ENST00000557457.1_Intron	p.D3937D	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	11930	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3937					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.11811C>T	CCDS45177.1																																																																																				0.597	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		6	408	0	0	0	0.006214	0	6	408					A	105409977	G	A	105409977	2	1	311	1	0	0	0	0	0	0	0	1	415	1136	40	1		1	AHNAK2	14	105409977	Silent	SNP	G	TCGA-EM-A3AI-01A-11D-A202-08	84171400	105409977	1939563	12	6599											
EFNB3	1949	broad.mit.edu	37	chr17	7612771	7612771	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggatagctctgcggggtggCggggctgcagatcccccctt	17	12	1	1	rs528034465		TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr17:7612771C>T	ENST00000226091.2	+	5	1297	c.900C>T	c.(898-900)ggC>ggT	p.G300G		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	300					adult walking behavior (GO:0007628)|axon choice point recognition (GO:0016198)|axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TGCGGGGTGGCGGGGCTGCAG	0.667																																						ENST00000226091.2																			0				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(898-900)ggC>ggT		ephrin-B3							44	43	44					17																	7612771		2199	4292	6491	SO:0001819	synonymous_variant	1949				cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	g.chr17:7612771C>T	U57001	CCDS11120.1	17p13.1	2011-03-09			ENSG00000108947	ENSG00000108947		"Ephrins"	3228	protein-coding gene	gene with protein product		602297		EPLG8		9126477	Standard	NM_001406		Approved	LERK-8	uc002gis.3	Q15768	OTTHUMG00000108161	ENST00000226091.2:c.900C>T	17.37:g.7612771C>T							p.G300G	NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN			5	1297	+		all_cancers(10;1.14e-06)|Prostate(122;0.081)	300					B2RBW2|D3DTQ6|O00680|Q8TBH7|Q92875	Silent	SNP	ENST00000226091.2	37	c.900C>T	CCDS11120.1																																																																																				0.667	EFNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226965.1	NM_001406		15	85	0	0	0	0.006122	0	15	85					T	7612771	C	T	7612771	2	4	311	1	0	0	0	0	0	0	0	1	4957	755	27	1		1	EFNB3	17	7612771	Silent	SNP	C	TCGA-EM-A3AI-01A-11D-A202-08		7612771	73582439	13	6600											
NEDD4L	23327	broad.mit.edu	37	chr18	55998052	55998052	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cccaccaccggcctccccagGatctcggaccagccctcagg	9	21	2	0	rs369196753		TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr18:55998052G>T	ENST00000400345.3	+	11	1179	c.896G>T	c.(895-897)gGa>gTa	p.G299V	NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000357895.5_Missense_Mutation_p.G291V|NEDD4L_ENST00000256832.7_Missense_Mutation_p.G178V|NEDD4L_ENST00000431212.2_Missense_Mutation_p.G178V|NEDD4L_ENST00000256830.9_Missense_Mutation_p.G299V|NEDD4L_ENST00000435432.2_Missense_Mutation_p.G178V|NEDD4L_ENST00000382850.4_Missense_Mutation_p.G299V|NEDD4L_ENST00000456173.2_Missense_Mutation_p.G178V|NEDD4L_ENST00000356462.6_Missense_Mutation_p.G299V|NEDD4L_ENST00000586263.1_Missense_Mutation_p.G291V|NEDD4L_ENST00000456986.1_Missense_Mutation_p.G178V	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	299					cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						GCCTCCCCAGGATCTCGGACC	0.542																																						ENST00000456986.1																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						c.(532-534)gGa>gTa		neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase							53	55	54					18																	55998052		1861	4095	5956	SO:0001583	missense	0				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	g.chr18:55998052G>T	AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"neural precursor cell expressed, developmentally down-regulated 4-like"			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.896G>T	18.37:g.55998052G>T	ENSP00000383199:p.Gly299Val					NEDD4L_ENST00000400345.3_Missense_Mutation_p.G299V|NEDD4L_ENST00000456173.2_Missense_Mutation_p.G178V|NEDD4L_ENST00000586263.1_Missense_Mutation_p.G291V|NEDD4L_ENST00000431212.2_Missense_Mutation_p.G178V|NEDD4L_ENST00000356462.6_Missense_Mutation_p.G299V|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000435432.2_Missense_Mutation_p.G178V|NEDD4L_ENST00000357895.5_Missense_Mutation_p.G291V|NEDD4L_ENST00000256832.7_Missense_Mutation_p.G178V|NEDD4L_ENST00000256830.9_Missense_Mutation_p.G299V|NEDD4L_ENST00000382850.4_Missense_Mutation_p.G299V	p.G178V	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN			11	1133	+			299					O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Missense_Mutation	SNP	ENST00000400345.3	37	c.533G>T	CCDS45872.1	.	.	.	.	.	.	.	.	.	.	G	6.309	0.425077	0.11987	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	T;T;T;T;T;T;T;T;T;T	0.31247	1.5;1.51;1.52;1.53;2.0;1.98;1.9;2.0;2.0;1.98	5.58	4.43	0.53597	.	4.579650	0.00531	N	0.000219	T	0.19406	0.0466	N	0.08118	0	0.18873	N	0.999988	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.04013	0.0;0.0;0.0;0.0;0.001;0.0;0.0	T	0.24764	-1.0151	10	0.20519	T	0.43	.	7.9169	0.29822	0.1319:0.0:0.1493:0.7189	.	299;291;291;178;299;299;299	Q96PU5-3;Q96PU5-6;Q96PU5-7;Q3LSM7;Q96PU5-2;Q96PU5;Q96PU5-5	.;.;.;.;.;NED4L_HUMAN;.	V	299;299;299;299;178;178;291;178;178;178	ENSP00000383199:G299V;ENSP00000372301:G299V;ENSP00000348847:G299V;ENSP00000256830:G299V;ENSP00000256832:G178V;ENSP00000411947:G178V;ENSP00000350569:G291V;ENSP00000393395:G178V;ENSP00000405440:G178V;ENSP00000389406:G178V	ENSP00000256830:G299V	G	+	2	0	NEDD4L	54149032	0.416000	0.25424	0.315000	0.25238	0.626000	0.37791	1.691000	0.37721	0.956000	0.37904	-0.262000	0.10625	GGA		0.542	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			6	47	1	0	0.00116845	0.001168	0.00191625	6	47					T	55998052	G	T	55998052	3	4	311	1	0	0	0	0	1	0	0	0	10311	1174	41	4	966	4	NEDD4L	18	55998052	Missense_Mutation	SNP	G	TCGA-EM-A3AI-01A-11D-A202-08		55998052	22079196	14	6601											
ZNF799	90576	broad.mit.edu	37	chr19	12502821	12502821	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccacattcatgatactcatAtggtttgtgcccagcaccaa	6	12	2	1	rs2902319		TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr19:12502821A>G	ENST00000430385.3	-	4	591	c.391T>C	c.(391-393)Tat>Cat	p.Y131H	CTD-3105H18.16_ENST00000595562.1_Missense_Mutation_p.Y131H|ZNF799_ENST00000419318.1_Missense_Mutation_p.Y99H|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	131					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.Y131H(1)		breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TGATACTCATATGGTTTGTGC	0.448																																						ENST00000419318.1																			1	Substitution - Missense(1)	p.Y131H(1)	prostate(1)	breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(295-297)Tat>Cat		zinc finger protein 799							169	155	160					19																	12502821		2203	4299	6502	SO:0001583	missense	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12502821A>G	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"Zinc fingers, C2H2-type", "-"	28071	protein-coding gene	gene with protein product			"zinc finger protein 842"	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.391T>C	19.37:g.12502821A>G	ENSP00000411084:p.Tyr131His					CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.Y131H|CTD-3105H18.16_ENST00000595562.1_Missense_Mutation_p.Y131H	p.Y99H			Q96GE5	ZN799_HUMAN			4	1044	-			131						Missense_Mutation	SNP	ENST00000430385.3	37	c.295T>C	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	G	3.267	-0.149998	0.06585	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.08282	3.11;3.25	1.12	-2.24	0.06909	Zinc finger, C2H2-like (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08403	0.0209	M	0.62016	1.91	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28964	-1.0027	9	0.49607	T	0.09	.	3.7569	0.08589	0.4985:0.1981:0.3033:0.0	rs2902319	131	Q96GE5	ZN799_HUMAN	H	99;131	ENSP00000415278:Y99H;ENSP00000411084:Y131H	ENSP00000415278:Y99H	Y	-	1	0	ZNF799	12363821	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.678000	0.01942	-2.231000	0.00718	-1.432000	0.01085	TAT		0.448	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		3	99	0	0	0	0.004672	0	3	99					G	12502821	A	G	12502821	3	3	311	1	0	0	0	0	1	0	0	0	18163	449	16	3	1544	3	ZNF799	19	12502821	Missense_Mutation	SNP	A	TCGA-EM-A3AI-01A-11D-A202-08		12502821	46626162	15	6602											
ELL	8178	broad.mit.edu	37	chr19	18572546	18572546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccccgctgcccccactcaCggcactggcaccactcttcc	6	23	2	0			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr19:18572546C>T	ENST00000262809.4	-	5	657	c.586G>A	c.(586-588)Gtg>Atg	p.V196M	ELL_ENST00000596124.3_Missense_Mutation_p.V63M	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	196					gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of viral transcription (GO:0050434)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	phosphatase binding (GO:0019902)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		CCCCCACTCACGGCACTGGCA	0.667			T	MLL	AL						OREG0025366	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000262809.4				Dom	yes		19	19p13.1	8178	T	ELL gene (11-19 lysine-rich leukemia gene)			L	MLL		AL		0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19						c.(586-588)Gtg>Atg		elongation factor RNA polymerase II							58	55	56					19																	18572546		2203	4300	6503	SO:0001583	missense	8178				positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding	g.chr19:18572546C>T	U16282	CCDS12380.1	19p13.1	2012-04-17	2005-05-23			ENSG00000105656		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	23114	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 68"	600284	"chromosome 19 open reading frame 17"	C19orf17		7991593, 8596958	Standard	NM_006532		Approved	Men, ELL1, PPP1R68	uc002njh.3	P55199		ENST00000262809.4:c.586G>A	19.37:g.18572546C>T	ENSP00000262809:p.Val196Met		OREG0025366	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	726		p.V196M	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN		GBM - Glioblastoma multiforme(1328;7.81e-07)	5	657	-			196						Missense_Mutation	SNP	ENST00000262809.4	37	c.586G>A	CCDS12380.1	.	.	.	.	.	.	.	.	.	.	C	0.118	-1.129622	0.01756	.	.	ENSG00000105656	ENST00000262809	T	0.22743	1.94	2.73	-5.46	0.02608	.	4.339300	0.01066	N	0.004720	T	0.10121	0.0248	N	0.08118	0	0.09310	N	1	B;B	0.18166	0.026;0.011	B;B	0.08055	0.003;0.003	T	0.19289	-1.0310	10	0.39692	T	0.17	.	5.758	0.18184	0.0:0.3116:0.208:0.4804	.	140;196	Q59HG4;P55199	.;ELL_HUMAN	M	196	ENSP00000262809:V196M	ENSP00000262809:V196M	V	-	1	0	ELL	18433546	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.506000	0.06359	-2.101000	0.00846	-2.320000	0.00252	GTG		0.667	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466362.1	NM_006532		25	39	0	0	0	0.00278	0	25	39					T	18572546	C	T	18572546	3	4	311	1	0	0	0	0	1	0	0	0	5062	536	19	1	1311	1	ELL	19	18572546	Missense_Mutation	SNP	C	TCGA-EM-A3AI-01A-11D-A202-08	6069725	18572546	40556437	16	6603											
C20orf165	128497	broad.mit.edu	37	chr20	44515629	44515629	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtccccccagggcagccccTggcttgtggcattgccaggg	14	15	0	0			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr20:44515629T>C	ENST00000372519.3	-	2	255	c.211A>G	c.(211-213)Agg>Ggg	p.R71G		NM_080608.3	NP_542175.1	Q9BR10	SPT25_HUMAN	spermatogenesis associated 25	71					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GGGCAGCCCCTGGCTTGTGGC	0.642																																						ENST00000372519.3																			0											c.(211-213)Agg>Ggg		spermatogenesis associated 25							85	95	92					20																	44515629		2203	4300	6503	SO:0001583	missense	128497					integral to membrane		g.chr20:44515629T>C	AL008726	CCDS13383.1	20q13.12	2011-11-24	2011-11-24	2011-11-24	ENSG00000149634	ENSG00000149634			16158	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 165"	C20orf165		19240080	Standard	NM_080608		Approved	dJ337O18.8, TSG23	uc002xqf.3	Q9BR10	OTTHUMG00000032628	ENST00000372519.3:c.211A>G	20.37:g.44515629T>C	ENSP00000361597:p.Arg71Gly						p.R71G	NM_080608.3	NP_542175.1	Q9BR10	CT165_HUMAN			2	255	-			71						Missense_Mutation	SNP	ENST00000372519.3	37	c.211A>G	CCDS13383.1	.	.	.	.	.	.	.	.	.	.	T	15.01	2.706974	0.48412	.	.	ENSG00000149634	ENST00000372519	T	0.54675	0.56	4.93	2.62	0.31277	.	0.000000	0.51477	D	0.000096	T	0.34019	0.0883	L	0.29908	0.895	0.35058	D	0.761256	B	0.11235	0.004	B	0.09377	0.004	T	0.26916	-1.0089	10	0.30854	T	0.27	-8.7666	5.3759	0.16164	0.0:0.2303:0.0:0.7697	.	71	Q9BR10	CT165_HUMAN	G	71	ENSP00000361597:R71G	ENSP00000361597:R71G	R	-	1	2	C20orf165	43949036	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.944000	0.40263	0.906000	0.36621	0.533000	0.62120	AGG		0.642	SPATA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079541.1			73	210	0	0	0	0.00361	0	73	210					C	44515629	T	C	44515629	3	2	311	1	0	0	0	0	1	0	0	0	2094	1579	55	3	476	3	C20orf165	20	44515629	Missense_Mutation	SNP	T	TCGA-EM-A3AI-01A-11D-A202-08		44515629	18509891	17	6604											
GRIK1	2897	broad.mit.edu	37	chr21	31023467	31023467	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccatccaaaaggccagtctCgggcctgggtggggcctgca	15	13	1	0			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr21:31023467C>T	ENST00000399907.1	-	6	1336	c.925G>A	c.(925-927)Gag>Aag	p.E309K	GRIK1_ENST00000389124.2_Missense_Mutation_p.E309K|GRIK1_ENST00000399914.1_Missense_Mutation_p.E309K|GRIK1_ENST00000389125.3_Missense_Mutation_p.E309K|GRIK1_ENST00000309434.7_Missense_Mutation_p.E309K|GRIK1_ENST00000327783.4_Missense_Mutation_p.E309K|GRIK1_ENST00000399909.1_Missense_Mutation_p.E309K|GRIK1_ENST00000399913.1_Missense_Mutation_p.E309K|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000535441.1_Missense_Mutation_p.E309K	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	309					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|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 postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.E309K(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	AGGCCAGTCTCGGGCCTGGGT	0.463																																						ENST00000399914.1																			2	Substitution - Missense(2)	p.E309K(2)	urinary_tract(2)	NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45						c.(925-927)Gag>Aag		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						64	61	62					21																	31023467		2203	4300	6503	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:31023467C>T		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.925G>A	21.37:g.31023467C>T	ENSP00000382791:p.Glu309Lys					GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399907.1_Missense_Mutation_p.E309K|GRIK1_ENST00000389125.3_Missense_Mutation_p.E309K|GRIK1_ENST00000399913.1_Missense_Mutation_p.E309K|GRIK1_ENST00000309434.7_Missense_Mutation_p.E309K|GRIK1_ENST00000389124.2_Missense_Mutation_p.E309K|GRIK1_ENST00000535441.1_Missense_Mutation_p.E309K|GRIK1_ENST00000327783.4_Missense_Mutation_p.E309K|GRIK1_ENST00000399909.1_Missense_Mutation_p.E309K	p.E309K			P39086	GRIK1_HUMAN			6	1446	-			309					Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.925G>A	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.913377	0.92178	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	T;T;T;T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91	4.91	4.91	0.64330	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.26159	0.0638	L	0.33753	1.03	0.80722	D	1	P;P;B;P;P;P	0.46859	0.54;0.7;0.004;0.7;0.885;0.524	B;B;B;B;P;B	0.46320	0.188;0.244;0.003;0.244;0.512;0.04	T	0.01356	-1.1376	10	0.17832	T	0.49	.	18.233	0.89939	0.0:1.0:0.0:0.0	.	309;309;309;309;309;309	E7EPY9;E9PD61;E7EPZ0;B7Z3V7;P39086;P39086-2	.;.;.;.;GRIK1_HUMAN;.	K	309;309;309;309;309;253;309;309;309;309	ENSP00000327687:E309K;ENSP00000373777:E309K;ENSP00000382797:E309K;ENSP00000382798:E309K;ENSP00000446326:E309K;ENSP00000373776:E309K;ENSP00000382791:E309K;ENSP00000382793:E309K;ENSP00000311646:E309K	ENSP00000311646:E309K	E	-	1	0	GRIK1	29945338	1.000000	0.71417	0.977000	0.42913	0.969000	0.65631	5.563000	0.67352	2.693000	0.91896	0.655000	0.94253	GAG		0.463	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			11	62	0	0	0	0.00245	0	11	62					T	31023467	C	T	31023467	3	4	311	1	0	0	0	0	1	0	0	0	6773	893	31	1	2039	1	GRIK1	21	31023467	Missense_Mutation	SNP	C	TCGA-EM-A3AI-01A-11D-A202-08		31023467	17106428	18	6605											
TRAPPC10	7109	broad.mit.edu	37	chr21	45511884	45511884	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatcttgtagataccggtgAtagtaccgacctgcaactag	9	9	1	2			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr21:45511884A>G	ENST00000291574.4	+	19	3126	c.2951A>G	c.(2950-2952)gAt>gGt	p.D984G	TRAPPC10_ENST00000483973.1_3'UTR	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	984					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GATACCGGTGATAGTACCGAC	0.408																																						ENST00000291574.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.(2950-2952)gAt>gGt		trafficking protein particle complex 10							189	182	185					21																	45511884		2203	4300	6503	SO:0001583	missense	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45511884A>G	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"Trafficking protein particle complex"	11868	protein-coding gene	gene with protein product	"trafficking protein particle complex subunit 130", "TRAPP 130 kDa subunit"	602103	"transmembrane protein 1"	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.2951A>G	21.37:g.45511884A>G	ENSP00000291574:p.Asp984Gly					TRAPPC10_ENST00000483973.1_3'UTR	p.D984G	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN			19	3126	+			984					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	c.2951A>G	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	A	7.935	0.741514	0.15642	.	.	ENSG00000160218	ENST00000291574;ENST00000542855	T	0.23950	1.88	5.28	-0.525	0.11917	.	0.633872	0.17006	N	0.190713	T	0.11410	0.0278	N	0.14661	0.345	0.09310	N	1	B;B;B	0.13145	0.007;0.001;0.0	B;B;B	0.10450	0.005;0.001;0.0	T	0.27054	-1.0085	10	0.23302	T	0.38	.	5.6952	0.17851	0.5815:0.0:0.3039:0.1146	.	89;243;984	B4DV34;B4DI17;P48553	.;.;TPC10_HUMAN	G	984;115	ENSP00000291574:D984G	ENSP00000291574:D984G	D	+	2	0	TRAPPC10	44336312	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.031000	0.12287	-0.043000	0.13513	0.460000	0.39030	GAT		0.408	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		4	123	0	0	0	0.000248	0	4	123					G	45511884	A	G	45511884	3	3	311	1	0	0	0	0	1	0	0	0	16454	333	12	3	3025	3	TRAPPC10	21	45511884	Missense_Mutation	SNP	A	TCGA-EM-A3AI-01A-11D-A202-08	14488417	45511884	2618011	19	6606											
MST4	51765	broad.mit.edu	37	chrX	131205246	131205246	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattccgagggctctgattcGtatgtacaaattatttaatt	8	6	1	1	rs181805052		TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chrX:131205246G>A	ENST00000354719.6	+	8	1148		c.e8+1		MST4_ENST00000394335.2_Splice_Site|MST4_ENST00000496850.1_Splice_Site|MST4_ENST00000394334.2_Splice_Site|MST4_ENST00000481105.1_Splice_Site																endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					GCTCTGATTCGTATGTACAAA	0.348																																						ENST00000394334.2																			0				endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23						c.e8+1									97	98	98					X																	131205246		2203	4299	6502	SO:0001630	splice_region_variant	0				cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:131205246G>A																												ENST00000354719.6:c.932+1G>A	X.37:g.131205246G>A						MST4_ENST00000481105.1_Splice_Site|MST4_ENST00000354719.6_Splice_Site|MST4_ENST00000394335.2_Splice_Site|MST4_ENST00000496850.1_Splice_Site		NM_016542.3	NP_057626.2	Q9P289	MST4_HUMAN			8	1185	+	Acute lymphoblastic leukemia(192;0.000127)								Splice_Site	SNP	ENST00000354719.6	37			.	.	.	.	.	.	.	.	.	.	G	22.7	4.325722	0.81580	.	.	ENSG00000134602	ENST00000394334;ENST00000481105;ENST00000354719;ENST00000394335;ENST00000496850	.	.	.	5.99	5.99	0.97316	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4045	0.94643	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AL109749.1	131032927	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	8.901000	0.92560	2.536000	0.85505	0.600000	0.82982	.		0.348	MST4-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000058308.2		Intron	12	110	0	0	0	0.000978	0	12	110					A	131205246	G	A	131205246	5	1	311	1	0	0	0	0	0	0	1	0	9892	1159	40	1	959	1	MST4	23	131205246	Splice_Site	SNP	G	TCGA-EM-A3AI-01A-11D-A202-08		131205246	24065314	20	6607											
PIK3CD	5293	broad.mit.edu	37	chr1	9783255	9783255	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtggtactccgttcagacacCatcgccaacatccaactcaa	6	15	2	1			TCGA-EM-A3AJ-01A-11D-A202-08	TCGA-EM-A3AJ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57a666a-7a35-44c2-b805-ff1794f0526a	3919bfff-dedc-4025-87d7-6f8b2ab2c8a3	g.chr1:9783255C>G	ENST00000377346.4	+	20	2694	c.2499C>G	c.(2497-2499)acC>acG	p.T833T	PIK3CD_ENST00000361110.2_Silent_p.T857T|PIK3CD_ENST00000536656.1_Silent_p.T857T	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	833	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				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)	GTTCAGACACCATCGCCAACA	0.607																																						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.(2569-2571)acC>acG		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta							138	135	136					1																	9783255		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:9783255C>G		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.2499C>G	1.37:g.9783255C>G						PIK3CD_ENST00000377346.4_Silent_p.T833T|PIK3CD_ENST00000361110.2_Silent_p.T857T	p.T857T			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)	20	2779	+	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)	833			PI3K/PI4K.		A6NCG0|G1FFP1|O15445|Q5SR49	Silent	SNP	ENST00000377346.4	37	c.2571C>G	CCDS104.1																																																																																				0.607	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		7	239	0	0	0	0.00308	0	7	239					G	9783255	C	G	9783255	2	3	312	1	0	0	0	0	0	0	0	1	11915	581	21	4		4	PIK3CD	1	9783255	Silent	SNP	C	TCGA-EM-A3AJ-01A-11D-A202-08		9783255	239467366	1	6608											
C6orf97	80129	broad.mit.edu	37	chr6	151939128	151939128	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagatgctaggcttgaacgTgaccagccttgctcttcctg	11	12	1	3			TCGA-EM-A3AJ-01A-11D-A202-08	TCGA-EM-A3AJ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57a666a-7a35-44c2-b805-ff1794f0526a	3919bfff-dedc-4025-87d7-6f8b2ab2c8a3	g.chr6:151939128T>G	ENST00000239374.7	+	11	2093	c.1994T>G	c.(1993-1995)gTg>gGg	p.V665G	CCDC170_ENST00000367290.5_Missense_Mutation_p.V672G|RNU6-813P_ENST00000384691.1_RNA	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	665																	GGCTTGAACGTGACCAGCCTT	0.438																																						ENST00000367290.5																			0											c.(2014-2016)gTg>gGg		coiled-coil domain containing 170							133	135	134					6																	151939128		2019	4174	6193	SO:0001583	missense	80129							g.chr6:151939128T>G	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 97"	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1994T>G	6.37:g.151939128T>G	ENSP00000239374:p.Val665Gly					CCDC170_ENST00000239374.7_Missense_Mutation_p.V665G	p.V672G			Q8IYT3	CF097_HUMAN			11	2104	+			665					Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	c.2015T>G	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	T	16.85	3.237480	0.58886	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.10382	2.88;2.88	5.96	5.96	0.96718	.	1.008230	0.07950	N	0.980760	T	0.11879	0.0289	L	0.38175	1.15	0.45822	D	0.998696	D	0.55385	0.971	P	0.51453	0.67	T	0.03325	-1.1048	10	0.87932	D	0	-4.5932	16.4381	0.83884	0.0:0.0:0.0:1.0	.	665	Q8IYT3	CF097_HUMAN	G	665;672	ENSP00000239374:V665G;ENSP00000356259:V672G	ENSP00000239374:V665G	V	+	2	0	C6orf97	151980821	0.968000	0.33430	0.392000	0.26245	0.199000	0.23934	2.980000	0.49321	2.280000	0.76307	0.533000	0.62120	GTG		0.438	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		20	79	0	0	0	0.008871	0	20	79					G	151939128	T	G	151939128	3	3	312	1	0	0	0	0	1	0	0	0	2374	1696	59	5	2036	5	C6orf97	6	151939128	Missense_Mutation	SNP	T	TCGA-EM-A3AJ-01A-11D-A202-08		151939128	19175939	2	6609											
CNTLN	54875	broad.mit.edu	37	chr9	17236437	17236437	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agtgtgtacagaacaaagaaGagcaaaacagactagttata	9	5	0	4			TCGA-EM-A3AJ-01A-11D-A202-08	TCGA-EM-A3AJ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57a666a-7a35-44c2-b805-ff1794f0526a	3919bfff-dedc-4025-87d7-6f8b2ab2c8a3	g.chr9:17236437G>A	ENST00000380647.3	+	5	784	c.700G>A	c.(700-702)Gag>Aag	p.E234K	CNTLN_ENST00000380641.4_Missense_Mutation_p.E234K|CNTLN_ENST00000425824.1_Missense_Mutation_p.E234K|CNTLN_ENST00000262360.5_Missense_Mutation_p.E234K			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	234					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)		GAACAAAGAAGAGCAAAACAG	0.383																																						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.(700-702)Gag>Aag		centlein, centrosomal protein							91	91	91					9																	17236437		1814	4084	5898	SO:0001583	missense	54875					centriole|membrane	two-component sensor activity	g.chr9:17236437G>A	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.700G>A	9.37:g.17236437G>A	ENSP00000370021:p.Glu234Lys					CNTLN_ENST00000425824.1_Missense_Mutation_p.E234K|CNTLN_ENST00000380641.4_Missense_Mutation_p.E234K|CNTLN_ENST00000262360.5_Missense_Mutation_p.E234K	p.E234K			Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	5	784	+			234					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	c.700G>A	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.229972	0.39399	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360;ENST00000380641	T;T;T;T	0.06933	3.24;3.24;3.24;3.24	5.59	5.59	0.84812	.	.	.	.	.	T	0.15998	0.0385	L	0.52364	1.645	0.41151	D	0.986026	P;P;B	0.51537	0.946;0.946;0.319	P;P;B	0.52758	0.708;0.708;0.069	T	0.00195	-1.1932	9	0.48119	T	0.1	.	12.5579	0.56265	0.0768:0.0:0.9232:0.0	.	234;234;234	C9J1F9;Q9NXG0-2;Q9NXG0-3	.;.;.	K	234	ENSP00000370021:E234K;ENSP00000392798:E234K;ENSP00000262360:E234K;ENSP00000370015:E234K	ENSP00000262360:E234K	E	+	1	0	CNTLN	17226437	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.588000	0.74076	2.631000	0.89168	0.561000	0.74099	GAG		0.383	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		14	61	0	0	0	0.007413	0	14	61					A	17236437	G	A	17236437	3	1	312	1	0	0	0	0	1	0	0	0	3639	943	33	2	718	2	CNTLN	9	17236437	Missense_Mutation	SNP	G	TCGA-EM-A3AJ-01A-11D-A202-08		17236437	123976994	3	6610											
MCM10	55388	broad.mit.edu	37	chr10	13213015	13213015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaaataacttcttgacgcGggaaaatggcgagcccgacg	12	9	1	2	rs150335901		TCGA-EM-A3AJ-01A-11D-A202-08	TCGA-EM-A3AJ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57a666a-7a35-44c2-b805-ff1794f0526a	3919bfff-dedc-4025-87d7-6f8b2ab2c8a3	g.chr10:13213015G>A	ENST00000484800.2	+	3	204	c.101G>A	c.(100-102)cGg>cAg	p.R34Q	MCM10_ENST00000378694.1_Missense_Mutation_p.R34Q|MCM10_ENST00000378714.3_Missense_Mutation_p.R34Q			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	34	N-terminal domain. {ECO:0000250}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						TTCTTGACGCGGGAAAATGGC	0.488													G|||	1	0.000199681	8e-04	0	5008	,	,		19268	0		0	False		,,,				2504	0					ENST00000378694.1																			0				central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						c.(100-102)cGg>cAg		minichromosome maintenance complex component 10		G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	131	135	134		101,101	2.1	0.0	10	dbSNP_134	134	0,8600		0,0,4300	yes	missense,missense	MCM10	NM_018518.4,NM_182751.2	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	34/875,34/876	13213015	1,13005	2203	4300	6503	SO:0001583	missense	55388				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding	g.chr10:13213015G>A	AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.101G>A	10.37:g.13213015G>A	ENSP00000418268:p.Arg34Gln					MCM10_ENST00000484800.2_Missense_Mutation_p.R34Q|MCM10_ENST00000378714.3_Missense_Mutation_p.R34Q	p.R34Q			Q7L590	MCM10_HUMAN			2	176	+			34					A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	ENST00000484800.2	37	c.101G>A	CCDS7096.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	0.025	-1.376880	0.01214	2.27E-4	0.0	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.13089	2.62;2.62;2.62	5.7	2.06	0.26882	.	0.509940	0.19624	N	0.109829	T	0.02727	0.0082	N	0.00707	-1.245	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.41945	-0.9480	10	0.10636	T	0.68	-10.2955	3.4039	0.07333	0.6472:0.0:0.1795:0.1733	.	34;34;34	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	Q	34	ENSP00000367986:R34Q;ENSP00000418268:R34Q;ENSP00000367966:R34Q	ENSP00000354945:R34Q	R	+	2	0	MCM10	13253021	0.011000	0.17503	0.029000	0.17559	0.005000	0.04900	0.071000	0.14594	0.392000	0.25172	-0.294000	0.09567	CGG		0.488	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751		5	195	0	0	0	0.021553	0	5	195					A	13213015	G	A	13213015	3	1	312	1	0	0	0	0	1	0	0	0	9385	1116	39	1	107	1	MCM10	10	13213015	Missense_Mutation	SNP	G	TCGA-EM-A3AJ-01A-11D-A202-08		13213015	122321732	4	6611											
PVRL1	5818	broad.mit.edu	37	chr11	119548360	119548360	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcttccctgctgggcaccAggcggtagcggctgatgacc	16	13	0	2			TCGA-EM-A3AJ-01A-11D-A202-08	TCGA-EM-A3AJ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57a666a-7a35-44c2-b805-ff1794f0526a	3919bfff-dedc-4025-87d7-6f8b2ab2c8a3	g.chr11:119548360A>G	ENST00000264025.3	-	3	1168	c.638T>C	c.(637-639)cTg>cCg	p.L213P	PVRL1_ENST00000340882.2_Missense_Mutation_p.L213P|PVRL1_ENST00000341398.2_Missense_Mutation_p.L213P|PVRL1_ENST00000524510.1_5'UTR	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	213	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GCTGGGCACCAGGCGGTAGCG	0.582																																						ENST00000264025.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(637-639)cTg>cCg		poliovirus receptor-related 1 (herpesvirus entry mediator C)							140	127	131					11																	119548360		2199	4295	6494	SO:0001583	missense	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119548360A>G	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9706	protein-coding gene	gene with protein product	"nectin"	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.638T>C	11.37:g.119548360A>G	ENSP00000264025:p.Leu213Pro					PVRL1_ENST00000341398.2_Missense_Mutation_p.L213P|PVRL1_ENST00000340882.2_Missense_Mutation_p.L213P|PVRL1_ENST00000524510.1_5'UTR	p.L213P	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	3	1168	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	213			Ig-like C2-type 1.		O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	ENST00000264025.3	37	c.638T>C	CCDS8426.1	.	.	.	.	.	.	.	.	.	.	a	22.3	4.266585	0.80358	.	.	ENSG00000110400	ENST00000341398;ENST00000264025;ENST00000340882	T;T;T	0.79845	-1.31;-1.31;-1.31	5.21	5.21	0.72293	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	0.219003	0.39475	N	0.001352	D	0.89774	0.6812	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	D	0.90626	0.4563	9	.	.	.	.	14.2568	0.66058	1.0:0.0:0.0:0.0	.	213;213;213	Q15223-3;Q15223;Q15223-2	.;PVRL1_HUMAN;.	P	213	ENSP00000344974:L213P;ENSP00000264025:L213P;ENSP00000345289:L213P	.	L	-	2	0	PVRL1	119053570	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.121000	0.77160	1.983000	0.57843	0.454000	0.30748	CTG		0.582	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1			3	106	0	0	0	0.009096	0	3	106					G	119548360	A	G	119548360	3	3	312	1	0	0	0	0	1	0	0	0	12839	188	7	3	1377	3	PVRL1	11	119548360	Missense_Mutation	SNP	A	TCGA-EM-A3AJ-01A-11D-A202-08		119548360	15458156	5	6612											
NUAK1	9891	broad.mit.edu	37	chr12	106460871	106460871	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgacactggaagggcggctGtagctccgggagaggccctc	16	11	0	2	rs142540856		TCGA-EM-A3AJ-01A-11D-A202-08	TCGA-EM-A3AJ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57a666a-7a35-44c2-b805-ff1794f0526a	3919bfff-dedc-4025-87d7-6f8b2ab2c8a3	g.chr12:106460871G>A	ENST00000261402.2	-	7	3074	c.1695C>T	c.(1693-1695)taC>taT	p.Y565Y		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	565					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						AAGGGCGGCTGTAGCTCCGGG	0.632																																						ENST00000261402.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.(1693-1695)taC>taT		NUAK family, SNF1-like kinase, 1		G		0,4404		0,0,2202	33	39	37		1695	2.9	1.0	12	dbSNP_134	37	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NUAK1	NM_014840.2		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		565/662	106460871	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	9891						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr12:106460871G>A	AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"AMP-activated protein kinase family member 5"	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.1695C>T	12.37:g.106460871G>A							p.Y565Y	NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN			7	3074	-			565					A7MD39|Q96KA8	Silent	SNP	ENST00000261402.2	37	c.1695C>T	CCDS31892.1																																																																																				0.632	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840		8	50	0	0	0	0.006214	0	8	50					A	106460871	G	A	106460871	2	1	312	1	0	0	0	0	0	0	0	1	10712	1372	48	2		2	NUAK1	12	106460871	Silent	SNP	G	TCGA-EM-A3AJ-01A-11D-A202-08		106460871	27391024	6	6613											
TRAFD1	10906	broad.mit.edu	37	chr12	112589709	112589709	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaacaatatgacagctaccTataaccagctatcgagatca	5	10	1	2			TCGA-EM-A3AJ-01A-11D-A202-08	TCGA-EM-A3AJ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57a666a-7a35-44c2-b805-ff1794f0526a	3919bfff-dedc-4025-87d7-6f8b2ab2c8a3	g.chr12:112589709T>G	ENST00000257604.5	+	10	2001	c.1384T>G	c.(1384-1386)Tat>Gat	p.Y462D	TRAFD1_ENST00000412615.2_Missense_Mutation_p.Y462D|Y_RNA_ENST00000363265.1_RNA	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	462					negative regulation of innate immune response (GO:0045824)|response to cytokine (GO:0034097)		metal ion binding (GO:0046872)			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						GACAGCTACCTATAACCAGCT	0.542																																						ENST00000257604.5																			0				kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						c.(1384-1386)Tat>Gat		TRAF-type zinc finger domain containing 1							132	142	138					12																	112589709		2203	4300	6503	SO:0001583	missense	10906				negative regulation of innate immune response	intracellular	protein binding|zinc ion binding	g.chr12:112589709T>G	AB007447	CCDS9160.1	12q24.13	2013-01-25			ENSG00000135148	ENSG00000135148			24808	protein-coding gene	gene with protein product		613197				12477932	Standard	NM_006700		Approved	FLN29	uc001ttp.3	O14545	OTTHUMG00000169640	ENST00000257604.5:c.1384T>G	12.37:g.112589709T>G	ENSP00000257604:p.Tyr462Asp					TRAFD1_ENST00000412615.2_Missense_Mutation_p.Y462D	p.Y462D	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN			10	2001	+			462					A8K5L6|B4DI89	Missense_Mutation	SNP	ENST00000257604.5	37	c.1384T>G	CCDS9160.1	.	.	.	.	.	.	.	.	.	.	T	6.124	0.391055	0.11581	.	.	ENSG00000135148	ENST00000412615;ENST00000257604	T;T	0.28666	1.6;1.6	6.16	3.84	0.44239	.	1.077110	0.06969	N	0.817797	T	0.22475	0.0542	N	0.22421	0.69	0.09310	N	1	B	0.20671	0.047	B	0.24155	0.051	T	0.24261	-1.0165	10	0.49607	T	0.09	1.765	5.4628	0.16626	0.0:0.2404:0.0:0.7596	.	462	O14545	TRAD1_HUMAN	D	462	ENSP00000396526:Y462D;ENSP00000257604:Y462D	ENSP00000257604:Y462D	Y	+	1	0	TRAFD1	111074092	0.001000	0.12720	0.002000	0.10522	0.072000	0.16883	0.679000	0.25291	1.155000	0.42497	0.528000	0.53228	TAT		0.542	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405214.1	NM_006700		16	246	0	0	0	0.028581	0	16	246					G	112589709	T	G	112589709	3	3	312	1	0	0	0	0	1	0	0	0	16444	1522	53	5	1418	5	TRAFD1	12	112589709	Missense_Mutation	SNP	T	TCGA-EM-A3AJ-01A-11D-A202-08	6128838	112589709	21262186	7	6614											
ADAMTS18	170692	broad.mit.edu	37	chr16	77396028	77396028	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcacatggttcattcttcCaagaacaaatatcaaatcct	4	10	4	1			TCGA-EM-A3AJ-01A-11D-A202-08	TCGA-EM-A3AJ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57a666a-7a35-44c2-b805-ff1794f0526a	3919bfff-dedc-4025-87d7-6f8b2ab2c8a3	g.chr16:77396028C>T	ENST00000282849.5	-	7	1608	c.1190G>A	c.(1189-1191)tGg>tAg	p.W397*		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	397	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTCATTCTTCCAAGAACAAAT	0.398																																						ENST00000282849.5																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(1189-1191)tGg>tAg		ADAM metallopeptidase with thrombospondin type 1 motif, 18							145	125	132					16																	77396028		2198	4300	6498	SO:0001587	stop_gained	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77396028C>T	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.1190G>A	16.37:g.77396028C>T	ENSP00000282849:p.Trp397*						p.W397*	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			7	1608	-			397			Peptidase M12B.		Q6P4R5|Q6ZWJ9	Nonsense_Mutation	SNP	ENST00000282849.5	37	c.1190G>A	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	41	9.009370	0.99035	.	.	ENSG00000140873	ENST00000282849	.	.	.	5.26	4.3	0.51218	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3344	0.66578	0.1493:0.8507:0.0:0.0	.	.	.	.	X	397	.	ENSP00000282849:W397X	W	-	2	0	ADAMTS18	75953529	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.604000	0.82830	1.412000	0.46977	0.655000	0.94253	TGG		0.398	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			7	27	0	0	0	0.001984	0	7	27					T	77396028	C	T	77396028	4	4	312	1	0	0	0	0	0	1	0	0	263	595	21	2	2543	2	ADAMTS18	16	77396028	Nonsense_Mutation	SNP	C	TCGA-EM-A3AJ-01A-11D-A202-08		77396028	12958725	8	6615											
TMEM145	284339	broad.mit.edu	37	chr19	42827922	42827922	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcacggagctcttctccaTccccccgcccgccacctccg	6	23	3	0			TCGA-EM-A3AJ-01A-11D-A202-08	TCGA-EM-A3AJ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57a666a-7a35-44c2-b805-ff1794f0526a	3919bfff-dedc-4025-87d7-6f8b2ab2c8a3	g.chr19:42827922T>C	ENST00000301204.3	+	14	1423	c.1382T>C	c.(1381-1383)aTc>aCc	p.I461T	MEGF8_ENST00000251268.6_5'Flank|MEGF8_ENST00000334370.4_5'Flank	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	461					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				CTCTTCTCCATCCCCCCGCCC	0.706																																						ENST00000301204.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27						c.(1381-1383)aTc>aCc		transmembrane protein 145							78	66	70					19																	42827922		2203	4300	6503	SO:0001583	missense	284339					integral to membrane		g.chr19:42827922T>C	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.1382T>C	19.37:g.42827922T>C	ENSP00000301204:p.Ile461Thr						p.I461T	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN			14	1423	+		Prostate(69;0.00682)	461						Missense_Mutation	SNP	ENST00000301204.3	37	c.1382T>C	CCDS12603.1	.	.	.	.	.	.	.	.	.	.	T	16.86	3.240414	0.58995	.	.	ENSG00000167619	ENST00000301204	T	0.51071	0.72	4.68	4.68	0.58851	.	0.137856	0.46145	D	0.000306	T	0.55768	0.1941	L	0.48642	1.525	0.53005	D	0.999966	P	0.50156	0.932	P	0.58520	0.84	T	0.54583	-0.8272	10	0.41790	T	0.15	-26.1249	12.3773	0.55287	0.0:0.0:0.0:1.0	.	461	Q8NBT3	TM145_HUMAN	T	461	ENSP00000301204:I461T	ENSP00000301204:I461T	I	+	2	0	TMEM145	47519762	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.882000	0.63121	1.868000	0.54150	0.528000	0.53228	ATC		0.706	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633		3	114	0	0	0	0.014758	0	3	114					C	42827922	T	C	42827922	3	2	312	1	0	0	0	0	1	0	0	0	16056	1435	50	3	1436	3	TMEM145	19	42827922	Missense_Mutation	SNP	T	TCGA-EM-A3AJ-01A-11D-A202-08		42827922	16301061	9	6616											
S100A6	6277	broad.mit.edu	37	chr1	153507784	153507784	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaagatggccacgaggAggccaatggcctgatccagg	16	9	0	2			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr1:153507784A>C	ENST00000368720.2	-	3	334	c.32T>G	c.(31-33)cTc>cGc	p.L11R	S100A6_ENST00000368719.4_Missense_Mutation_p.L11R|S100A6_ENST00000496817.1_Missense_Mutation_p.L11R|BX470102.3_ENST00000420695.1_RNA			P06703	S10A6_HUMAN	S100 calcium binding protein A6	11					axonogenesis (GO:0007409)|positive regulation of fibroblast proliferation (GO:0048146)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|ion transmembrane transporter activity (GO:0015075)|protein homodimerization activity (GO:0042803)|S100 protein binding (GO:0044548)|tropomyosin binding (GO:0005523)|zinc ion binding (GO:0008270)			ovary(1)	1	all_lung(78;1.66e-32)|Lung NSC(65;5.71e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCCACGAGGAGGCCAATGGC	0.602																																						ENST00000368720.2																			0				ovary(1)	1						c.(31-33)cTc>cGc		S100 calcium binding protein A6							95	91	92					1																	153507784		2203	4300	6503	SO:0001583	missense	6277				axonogenesis|positive regulation of fibroblast proliferation|signal transduction	cytosol|extrinsic to internal side of plasma membrane|nuclear envelope|perinuclear region of cytoplasm|ruffle	calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|S100 beta binding|tropomyosin binding	g.chr1:153507784A>C	BC001431	CCDS1040.1	1q21	2013-01-10	2006-09-11		ENSG00000197956	ENSG00000197956		"S100 calcium binding proteins", "EF-hand domain containing"	10496	protein-coding gene	gene with protein product		114110	"S100 calcium-binding protein A6 (calcyclin)", "S100 calcium binding protein A6 (calcyclin)"	CACY			Standard	NM_014624		Approved	2A9, PRA, CABP	uc001fbw.1	P06703	OTTHUMG00000013549	ENST00000368720.2:c.32T>G	1.37:g.153507784A>C	ENSP00000357709:p.Leu11Arg					S100A6_ENST00000496817.1_Missense_Mutation_p.L11R|S100A6_ENST00000368719.4_Missense_Mutation_p.L11R	p.L11R			P06703	S10A6_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	334	-	all_lung(78;1.66e-32)|Lung NSC(65;5.71e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		11					D3DV39|Q5RHS4	Missense_Mutation	SNP	ENST00000368720.2	37	c.32T>G	CCDS1040.1	.	.	.	.	.	.	.	.	.	.	A	13.29	2.192081	0.38707	.	.	ENSG00000197956	ENST00000368719;ENST00000368720	T;T	0.09445	2.98;2.98	4.94	-0.0395	0.13875	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	0.188416	0.35235	N	0.003351	T	0.02380	0.0073	.	.	.	0.09310	N	1	D	0.55172	0.97	B	0.43445	0.42	T	0.42816	-0.9429	9	0.42905	T	0.14	.	0.6905	0.00890	0.3505:0.3035:0.1806:0.1653	.	11	P06703	S10A6_HUMAN	R	11	ENSP00000357708:L11R;ENSP00000357709:L11R	ENSP00000357708:L11R	L	-	2	0	S100A6	151774408	0.000000	0.05858	0.199000	0.23439	0.810000	0.45777	0.267000	0.18552	0.681000	0.31386	0.459000	0.35465	CTC		0.602	S100A6-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037723.2	NM_014624		6	81	0	0	0	0.021553	0	6	81					C	153507784	A	C	153507784	3	2	313	1	0	0	0	0	1	0	0	0	13782	304	11	5	248	5	S100A6	1	153507784	Missense_Mutation	SNP	A	TCGA-EM-A3AK-01A-11D-A202-08		153507784	95742837	1	6617											
C1orf101	257044	broad.mit.edu	37	chr1	244724433	244724433	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atcaaatgacagcattattcAtgaagttttcataggtaagg	8	5	3	2			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr1:244724433A>T	ENST00000366534.4	+	10	1547	c.1493A>T	c.(1492-1494)cAt>cTt	p.H498L	C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366531.3_Missense_Mutation_p.H347L|C1orf101_ENST00000366533.4_Missense_Mutation_p.H498L	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	498						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			AGCATTATTCATGAAGTTTTC	0.328																																						ENST00000366534.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36						c.(1492-1494)cAt>cTt		chromosome 1 open reading frame 101							76	77	77					1																	244724433		2203	4300	6503	SO:0001583	missense	257044					integral to membrane		g.chr1:244724433A>T	BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.1493A>T	1.37:g.244724433A>T	ENSP00000355492:p.His498Leu					C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Missense_Mutation_p.H498L|C1orf101_ENST00000366531.3_Missense_Mutation_p.H347L	p.H498L	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)		10	1547	+	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		498					B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	ENST00000366534.4	37	c.1493A>T	CCDS44340.1	.	.	.	.	.	.	.	.	.	.	A	18.33	3.599365	0.66332	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042;ENST00000366531	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	4.95	4.95	0.65309	.	0.231178	0.30401	N	0.009720	T	0.36524	0.0970	L	0.59436	1.845	0.21675	N	0.999599	D;P;P;P	0.54047	0.964;0.902;0.952;0.782	P;B;P;B	0.52481	0.7;0.442;0.677;0.274	T	0.25950	-1.0117	10	0.87932	D	0	.	11.275	0.49161	1.0:0.0:0.0:0.0	.	418;498;498;347	B1AQM6;Q5SY80;Q5SY80-2;B4DZR4	.;CA101_HUMAN;.;.	L	498;498;498;418;347	ENSP00000355492:H498L;ENSP00000355491:H498L;ENSP00000395796:H418L;ENSP00000355489:H347L	ENSP00000355489:H347L	H	+	2	0	C1orf101	242791056	0.995000	0.38212	0.303000	0.25071	0.423000	0.31445	4.595000	0.61048	1.974000	0.57490	0.460000	0.39030	CAT		0.328	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	NM_173807		6	92	0	0	0	0.021553	0	6	92					T	244724433	A	T	244724433	3	4	313	1	0	0	0	0	1	0	0	0	1976	217	8	5	1531	5	C1orf101	1	244724433	Missense_Mutation	SNP	A	TCGA-EM-A3AK-01A-11D-A202-08	91216649	244724433	4526188	2	6618											
OR2M3	127062	broad.mit.edu	37	chr1	248367157	248367157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcatgtacatacggcccaCatctgatcgctccccaacac	6	16	2	1	rs373560980		TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr1:248367157C>T	ENST00000456743.1	+	1	826	c.788C>T	c.(787-789)aCa>aTa	p.T263I		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	263						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATACGGCCCACATCTGATCGC	0.502																																						ENST00000456743.1																			0				endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(787-789)aCa>aTa		olfactory receptor, family 2, subfamily M, member 3							193	177	183					1																	248367157		2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248367157C>T		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"GPCR / Class A : Olfactory receptors"	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.788C>T	1.37:g.248367157C>T	ENSP00000389625:p.Thr263Ile						p.T263I	NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	826	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		263					B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.788C>T	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	C	5.832	0.337759	0.11013	.	.	ENSG00000228198	ENST00000456743	T	0.00152	8.66	2.54	1.45	0.22620	GPCR, rhodopsin-like superfamily (1);	1.523810	0.04885	U	0.448477	T	0.00109	0.0003	N	0.25992	0.78	0.09310	N	1	B	0.14438	0.01	B	0.21151	0.033	T	0.41016	-0.9532	10	0.48119	T	0.1	.	1.111	0.01704	0.3457:0.3385:0.1806:0.1352	.	263	Q8NG83	OR2M3_HUMAN	I	263	ENSP00000389625:T263I	ENSP00000389625:T263I	T	+	2	0	OR2M3	246433780	0.000000	0.05858	0.012000	0.15200	0.024000	0.10985	-2.394000	0.01054	1.420000	0.47138	0.398000	0.26397	ACA		0.502	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		67	125	0	0	0	0.139131	0	67	125					T	248367157	C	T	248367157	3	4	313	1	0	0	0	0	1	0	0	0	11011	478	17	2	790	2	OR2M3	1	248367157	Missense_Mutation	SNP	C	TCGA-EM-A3AK-01A-11D-A202-08	3642724	248367157	883464	3	6619											
GALNTL2	117248	broad.mit.edu	37	chr3	16254129	16254129	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgctctcgggtaggacaCatctaccaaaatcaggattc	8	13	3	0	rs185944497	byFrequency	TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr3:16254129C>T	ENST00000339732.5	+	6	1754	c.1251C>T	c.(1249-1251)caC>caT	p.H417H	GALNT15_ENST00000437509.1_Silent_p.H417H	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	417	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										GGGTAGGACACATCTACCAAA	0.532																																						ENST00000339732.5																			0											c.(1249-1251)caC>caT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15							107	90	96					3																	16254129		2203	4300	6503	SO:0001819	synonymous_variant	117248							g.chr3:16254129C>T	AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"Glycosyltransferase family 2 domain containing"	21531	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 15"	615131	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.1251C>T	3.37:g.16254129C>T						GALNT15_ENST00000437509.1_Silent_p.H417H	p.H417H	NM_054110.4	NP_473451.3					6	1754	+								A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Silent	SNP	ENST00000339732.5	37	c.1251C>T	CCDS33711.1																																																																																				0.532	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110		21	43	0	0	0	0.049695	0	21	43					T	16254129	C	T	16254129	2	4	313	1	0	0	0	0	0	0	0	1	6222	477	17	2		2	GALNTL2	3	16254129	Silent	SNP	C	TCGA-EM-A3AK-01A-11D-A202-08		16254129	181768301	4	6620											
MCC	4163	broad.mit.edu	37	chr5	112420872	112420872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaactcaccttggcgatggGaatgtcattgctgctgctgc	13	10	2	0			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr5:112420872G>A	ENST00000302475.4	-	7	1527	c.964C>T	c.(964-966)Ccc>Tcc	p.P322S	MCC_ENST00000408903.3_Missense_Mutation_p.P512S|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.P259S	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	322					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TTGGCGATGGGAATGTCATTG	0.612																																						ENST00000302475.4																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(964-966)Ccc>Tcc		mutated in colorectal cancers							178	167	171					5																	112420872		2202	4300	6502	SO:0001583	missense	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112420872G>A		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"EF-hand domain containing"	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.964C>T	5.37:g.112420872G>A	ENSP00000305617:p.Pro322Ser					MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.P259S|MCC_ENST00000408903.3_Missense_Mutation_p.P512S	p.P322S	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	7	1527	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	322					D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	c.964C>T	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726411	0.89298	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.54479	1.68;1.69;0.57	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.64338	0.2589	L	0.32530	0.975	0.80722	D	1	D;D;D;D	0.67145	0.993;0.993;0.996;0.993	D;D;D;D	0.78314	0.968;0.968;0.991;0.968	T	0.59348	-0.7471	10	0.33141	T	0.24	-34.2366	19.8927	0.96935	0.0:0.0:1.0:0.0	.	322;284;512;322	B7Z6G0;B3KTX0;P23508-2;P23508	.;.;.;CRCM_HUMAN	S	322;259;512	ENSP00000305617:P322S;ENSP00000421615:P259S;ENSP00000386227:P512S	ENSP00000305617:P322S	P	-	1	0	MCC	112448771	1.000000	0.71417	0.997000	0.53966	0.947000	0.59692	7.562000	0.82300	2.711000	0.92665	0.655000	0.94253	CCC		0.612	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		28	124	0	0	0	0.125774	0	28	124					A	112420872	G	A	112420872	3	1	313	1	0	0	0	0	1	0	0	0	9373	1174	41	2	1569	2	MCC	5	112420872	Missense_Mutation	SNP	G	TCGA-EM-A3AK-01A-11D-A202-08		112420872	68494388	5	6621											
SYNGAP1	8831	broad.mit.edu	37	chr6	33403335	33403335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctttgcctgtcggtctgCggccgaaagagacaaatgga	13	9	1	1			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr6:33403335C>T	ENST00000418600.2	+	7	808	c.707C>T	c.(706-708)gCg>gTg	p.A236V	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.A236V|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.A177V|MIR5004_ENST00000579078.1_RNA	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	236	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TGTCGGTCTGCGGCCGAAAGA	0.507																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(706-708)gCg>gTg		synaptic Ras GTPase activating protein 1							178	163	168					6																	33403335		2203	4300	6503	SO:0001583	missense	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33403335C>T	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.707C>T	6.37:g.33403335C>T	ENSP00000403636:p.Ala236Val					SYNGAP1_ENST00000293748.5_Missense_Mutation_p.A236V|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.A177V	p.A236V	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			7	808	+			236			PH.		A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	c.707C>T	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	C	33	5.223162	0.95139	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	D;D;D	0.93366	-3.21;-3.21;-3.21	4.62	4.62	0.57501	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.94489	0.8226	M	0.80746	2.51	0.80722	D	1	D;D;D	0.61080	0.981;0.989;0.979	B;P;P	0.53689	0.446;0.648;0.732	D	0.95111	0.8238	10	0.87932	D	0	.	15.0065	0.71516	0.0:1.0:0.0:0.0	.	236;236;236	Q96PV0;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.	V	236;236;236;177	ENSP00000293748:A236V;ENSP00000403636:A236V;ENSP00000412475:A177V	ENSP00000293748:A236V	A	+	2	0	SYNGAP1	33511313	1.000000	0.71417	0.958000	0.39756	0.962000	0.63368	7.651000	0.83577	2.391000	0.81399	0.591000	0.81541	GCG		0.507	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		4	198	0	0	0	0.014758	0	4	198					T	33403335	C	T	33403335	3	4	313	1	0	0	0	0	1	0	0	0	15444	768	27	1	733	1	SYNGAP1	6	33403335	Missense_Mutation	SNP	C	TCGA-EM-A3AK-01A-11D-A202-08		33403335	137711732	6	6622											
DST	667	broad.mit.edu	37	chr6	56458993	56458993	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatcttctcgtgttgggccTatgtgaaaacaaattgatca	9	7	3	3			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr6:56458993T>C	ENST00000361203.3	-	44	11570		c.e44-2		DST_ENST00000370769.4_Splice_Site|DST_ENST00000370754.5_Splice_Site|DST_ENST00000312431.6_Splice_Site|DST_ENST00000421834.2_Splice_Site|DST_ENST00000446842.2_Splice_Site|DST_ENST00000370788.2_Splice_Site|DST_ENST00000244364.6_Splice_Site			Q03001	DYST_HUMAN	dystonin						axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTGTTGGGCCTATGTGAAAAC	0.473																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.e48-2		dystonin							156	147	150					6																	56458993		1988	4172	6160	SO:0001630	splice_region_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56458993T>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.11563-2A>G	6.37:g.56458993T>C						DST_ENST00000421834.2_Splice_Site|DST_ENST00000446842.2_Splice_Site|DST_ENST00000312431.6_Splice_Site|DST_ENST00000370769.4_Splice_Site|DST_ENST00000370788.2_Splice_Site|DST_ENST00000244364.6_Splice_Site|DST_ENST00000361203.3_Splice_Site				Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		48	12102	-	Lung NSC(77;0.103)							B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Splice_Site	SNP	ENST00000361203.3	37			.	.	.	.	.	.	.	.	.	.	T	16.12	3.032452	0.54790	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.993	0.80220	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	DST	56566952	1.000000	0.71417	0.872000	0.34217	0.513000	0.34164	7.616000	0.83018	2.236000	0.73375	0.528000	0.53228	.		0.473	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	Intron	3	178	0	0	0	0.009096	0	3	178					C	56458993	T	C	56458993	5	2	313	1	0	0	0	0	0	0	1	0	4783	1536	53	3	11414	3	DST	6	56458993	Splice_Site	SNP	T	TCGA-EM-A3AK-01A-11D-A202-08	23055658	56458993	114656074	7	6623											
GRM1	2911	broad.mit.edu	37	chr6	146351093	146351093	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgcctgacggccagtcccTccccccaggcaggactaaga	10	17	1	2			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr6:146351093T>C	ENST00000282753.1	+	1	675	c.440T>C	c.(439-441)cTc>cCc	p.L147P	GRM1_ENST00000355289.4_Missense_Mutation_p.L147P|GRM1_ENST00000361719.2_Missense_Mutation_p.L147P|GRM1_ENST00000492807.2_Missense_Mutation_p.L147P|GRM1_ENST00000392299.2_Missense_Mutation_p.L147P|GRM1_ENST00000507907.1_Missense_Mutation_p.L147P			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	147					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GGCCAGTCCCTCCCCCCAGGC	0.562																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(439-441)cTc>cCc		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						69	71	71					6																	146351093		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146351093T>C	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.440T>C	6.37:g.146351093T>C	ENSP00000282753:p.Leu147Pro					GRM1_ENST00000492807.2_Missense_Mutation_p.L147P|GRM1_ENST00000355289.4_Missense_Mutation_p.L147P|GRM1_ENST00000507907.1_Missense_Mutation_p.L147P|GRM1_ENST00000361719.2_Missense_Mutation_p.L147P|GRM1_ENST00000282753.1_Missense_Mutation_p.L147P	p.L147P			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	2	910	+		Ovarian(120;0.0387)	147					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.440T>C	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	T	9.850	1.193326	0.22037	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.69	1.72	0.24424	Extracellular ligand-binding receptor (1);	0.464258	0.25014	N	0.033816	T	0.44095	0.1277	N	0.11560	0.145	0.52501	D	0.999958	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.37888	-0.9686	10	0.30854	T	0.27	.	3.6447	0.08180	0.3196:0.2016:0.0:0.4788	.	147;147;142;147	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	P	147	ENSP00000354896:L147P;ENSP00000376119:L147P;ENSP00000424095:L147P;ENSP00000282753:L147P;ENSP00000347437:L147P;ENSP00000425599:L147P	ENSP00000282753:L147P	L	+	2	0	GRM1	146392786	0.857000	0.29778	1.000000	0.80357	0.775000	0.43874	2.689000	0.46993	0.959000	0.37980	0.459000	0.35465	CTC		0.562	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		3	113	0	0	0	0.115264	0	3	113					C	146351093	T	C	146351093	3	2	313	1	0	0	0	0	1	0	0	0	6796	1551	54	3	442	3	GRM1	6	146351093	Missense_Mutation	SNP	T	TCGA-EM-A3AK-01A-11D-A202-08	89892100	146351093	24763974	8	6624											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		35	58	0	0	0	0.064281	0	35	58					T	140453136	A	T	140453136	3	4	313	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A3AK-01A-11D-A202-08		140453136	18685527	9	6625											
SLC45A4	57210	broad.mit.edu	37	chr8	142231785	142231785	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agggtgcaccggtcactcgcAgacccaatgagaggtgtgaa	14	10	1	3			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr8:142231785A>T	ENST00000024061.3	-	2	475	c.168T>A	c.(166-168)tcT>tcA	p.S56S	SLC45A4_ENST00000433583.2_Silent_p.S49S|SLC45A4_ENST00000517878.1_Silent_p.S107S|SLC45A4_ENST00000519067.1_Silent_p.S56S	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGTCACTCGCAGACCCAATGA	0.632																																						ENST00000519067.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(166-168)tcT>tcA		solute carrier family 45, member 4							94	87	90					8																	142231785		2203	4300	6503	SO:0001819	synonymous_variant	57210				transport	integral to membrane		g.chr8:142231785A>T	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"Solute carriers"	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.168T>A	8.37:g.142231785A>T						SLC45A4_ENST00000024061.3_Silent_p.S56S|SLC45A4_ENST00000433583.2_Silent_p.S49S|SLC45A4_ENST00000517878.1_Silent_p.S107S	p.S56S			Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		2	471	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		107					Q6ZRI2|Q9ULU3	Silent	SNP	ENST00000024061.3	37	c.168T>A	CCDS34948.1																																																																																				0.632	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		11	88	0	0	0	0.105934	0	11	88					T	142231785	A	T	142231785	2	4	313	1	0	0	0	0	0	0	0	1	14643	175	7	5		5	SLC45A4	8	142231785	Silent	SNP	A	TCGA-EM-A3AK-01A-11D-A202-08		142231785	4132237	10	6626											
VPS13A	23230	broad.mit.edu	37	chr9	79867160	79867160	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctgtacttaggtgataattGgagagaagcacgaaaactca	10	6	2	2			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr9:79867160G>C	ENST00000360280.3	+	22	2440	c.2180G>C	c.(2179-2181)tGg>tCg	p.W727S	VPS13A_ENST00000376636.3_Missense_Mutation_p.W727S|VPS13A_ENST00000376634.4_Missense_Mutation_p.W727S|VPS13A_ENST00000357409.5_Missense_Mutation_p.W727S	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	727					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGTGATAATTGGAGAGAAGCA	0.343																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(2179-2181)tGg>tCg		vacuolar protein sorting 13 homolog A (S. cerevisiae)							174	165	168					9																	79867160		2203	4300	6503	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79867160G>C	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.2180G>C	9.37:g.79867160G>C	ENSP00000353422:p.Trp727Ser					VPS13A_ENST00000357409.5_Missense_Mutation_p.W727S|VPS13A_ENST00000376634.4_Missense_Mutation_p.W727S|VPS13A_ENST00000376636.3_Missense_Mutation_p.W727S	p.W727S	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			22	2440	+			727					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.2180G>C	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094153	0.76870	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.46	5.46	0.80206	.	0.068850	0.64402	D	0.000006	T	0.69106	0.3074	M	0.86028	2.79	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;1.0;1.0	D;D;D;D	0.97110	0.971;0.999;1.0;1.0	T	0.68849	-0.5300	10	0.33940	T	0.23	.	18.9119	0.92489	0.0:0.0:1.0:0.0	.	727;727;727;727	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	S	727	ENSP00000365821:W727S;ENSP00000365823:W727S;ENSP00000353422:W727S;ENSP00000349985:W727S	ENSP00000349985:W727S	W	+	2	0	VPS13A	79056980	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.938000	0.87678	2.552000	0.86080	0.561000	0.74099	TGG		0.343	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		3	104	0	0	0	0.014758	0	3	104					C	79867160	G	C	79867160	3	2	313	1	0	0	0	0	1	0	0	0	17186	1357	47	4	2266	4	VPS13A	9	79867160	Missense_Mutation	SNP	G	TCGA-EM-A3AK-01A-11D-A202-08		79867160	61346271	11	6627											
IL22	50616	broad.mit.edu	37	chr12	68646552	68646552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtagcttacactgactcCgtggaacagtttctccccaa	7	13	1	1			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr12:68646552C>T	ENST00000538666.1	-	3	314	c.244G>A	c.(244-246)Gga>Aga	p.G82R	IL22_ENST00000328087.4_Missense_Mutation_p.G82R			Q9GZX6	IL22_HUMAN	interleukin 22	82					acute-phase response (GO:0006953)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-22 receptor binding (GO:0045518)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		ACACTGACTCCGTGGAACAGT	0.498																																						ENST00000538666.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14						c.(244-246)Gga>Aga		interleukin 22							136	117	123					12																	68646552		2203	4300	6503	SO:0001583	missense	50616				acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding	g.chr12:68646552C>T	AF279437	CCDS8982.1	12q15	2014-05-22			ENSG00000127318	ENSG00000127318		"Interleukins and interleukin receptors"	14900	protein-coding gene	gene with protein product	"IL-10-related T-cell-derived inducible factor"	605330				10954742, 10875937	Standard	NM_020525		Approved	ILTIF, IL-21, zcyto18, IL-TIF, IL-D110, TIFa, TIFIL-23, IL-22, MGC79382, MGC79384	uc001sty.1	Q9GZX6	OTTHUMG00000169119	ENST00000538666.1:c.244G>A	12.37:g.68646552C>T	ENSP00000442424:p.Gly82Arg					IL22_ENST00000328087.4_Missense_Mutation_p.G82R	p.G82R			Q9GZX6	IL22_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)	3	314	-		Myeloproliferative disorder(1001;0.0255)	82						Missense_Mutation	SNP	ENST00000538666.1	37	c.244G>A	CCDS8982.1	.	.	.	.	.	.	.	.	.	.	c	15.02	2.709901	0.48517	.	.	ENSG00000127318	ENST00000538666;ENST00000328087	T;T	0.44482	0.92;0.92	5.13	5.13	0.70059	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.319863	0.26383	N	0.024685	T	0.60521	0.2275	M	0.72118	2.19	0.34206	D	0.673707	D	0.89917	1.0	D	0.97110	1.0	T	0.69785	-0.5051	9	.	.	.	-8.155	10.4182	0.44335	0.0:0.9088:0.0:0.0912	.	82	Q9GZX6	IL22_HUMAN	R	82	ENSP00000442424:G82R;ENSP00000329384:G82R	.	G	-	1	0	IL22	66932819	0.451000	0.25705	0.916000	0.36221	0.145000	0.21501	1.230000	0.32612	2.768000	0.95171	0.558000	0.71614	GGA		0.498	IL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402318.1	NM_020525		4	82	0	0	0	0.014758	0	4	82					T	68646552	C	T	68646552	3	4	313	1	0	0	0	0	1	0	0	0	7672	661	23	1	311	1	IL22	12	68646552	Missense_Mutation	SNP	C	TCGA-EM-A3AK-01A-11D-A202-08		68646552	65205343	12	6628											
C15orf43	145645	broad.mit.edu	37	chr15	45249168	45249168	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgcctcgcacccagacAcgctgaggtactgagggcga	14	12	0	4			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr15:45249168A>G	ENST00000340827.3	+	2	156	c.139A>G	c.(139-141)Acg>Gcg	p.T47A		NM_152448.2	NP_689661.1	Q8NHR7	CO043_HUMAN	chromosome 15 open reading frame 43	47										NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		GCACCCAGACACGCTGAGGTA	0.552																																						ENST00000340827.3																			0				NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8						c.(139-141)Acg>Gcg		chromosome 15 open reading frame 43							51	46	48					15																	45249168		2198	4298	6496	SO:0001583	missense	145645							g.chr15:45249168A>G	BC029537	CCDS10115.1	15q21.1	2006-02-03			ENSG00000167014	ENSG00000167014			28520	protein-coding gene	gene with protein product							Standard	NM_152448		Approved	MGC33951	uc001zuk.4	Q8NHR7	OTTHUMG00000131264	ENST00000340827.3:c.139A>G	15.37:g.45249168A>G	ENSP00000340644:p.Thr47Ala						p.T47A	NM_152448.2	NP_689661.1	Q8NHR7	CO043_HUMAN		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)	2	156	+		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)	47						Missense_Mutation	SNP	ENST00000340827.3	37	c.139A>G	CCDS10115.1	.	.	.	.	.	.	.	.	.	.	-	20.3	3.963289	0.74016	.	.	ENSG00000167014	ENST00000340827	T	0.61859	0.07	4.83	4.83	0.62350	.	0.000000	0.64402	D	0.000014	T	0.64204	0.2577	L	0.34521	1.04	0.34723	D	0.728974	D	0.67145	0.996	D	0.77557	0.99	T	0.74355	-0.3692	10	0.87932	D	0	.	10.9641	0.47401	1.0:0.0:0.0:0.0	.	47	Q8NHR7	CO043_HUMAN	A	47	ENSP00000340644:T47A	ENSP00000340644:T47A	T	+	1	0	C15orf43	43036460	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	4.637000	0.61346	2.153000	0.67306	0.523000	0.50628	ACG		0.552	C15orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254032.1	NM_152448		3	62	0	0	0	0.009096	0	3	62					G	45249168	A	G	45249168	3	3	313	1	0	0	0	0	1	0	0	0	1797	159	6	3	145	3	C15orf43	15	45249168	Missense_Mutation	SNP	A	TCGA-EM-A3AK-01A-11D-A202-08		45249168	57282224	13	6629											
ALPK3	57538	broad.mit.edu	37	chr15	85401117	85401117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggaccgtgaggtgcagGctggccgccaggcccttgct	15	14	0	1			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr15:85401117G>A	ENST00000258888.5	+	6	3921	c.3754G>A	c.(3754-3756)Gct>Act	p.A1252T		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1252					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGAGGTGCAGGCTGGCCGCCA	0.682																																						ENST00000258888.5																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(3754-3756)Gct>Act		alpha-kinase 3							30	21	24					15																	85401117		2198	4289	6487	SO:0001583	missense	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85401117G>A	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.3754G>A	15.37:g.85401117G>A	ENSP00000258888:p.Ala1252Thr						p.A1252T	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		6	3921	+			1252					Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.3754G>A	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475416	0.63737	.	.	ENSG00000136383	ENST00000258888	T	0.64618	-0.11	5.21	4.2	0.49525	.	0.730379	0.13446	N	0.387243	T	0.43299	0.1241	N	0.19112	0.55	0.28159	N	0.929075	P	0.40970	0.734	B	0.37601	0.254	T	0.16541	-1.0399	10	0.12766	T	0.61	-4.6111	11.7231	0.51693	0.0:0.0:0.8117:0.1883	.	1252	Q96L96	ALPK3_HUMAN	T	1252	ENSP00000258888:A1252T	ENSP00000258888:A1252T	A	+	1	0	ALPK3	83202121	0.998000	0.40836	0.998000	0.56505	0.945000	0.59286	2.008000	0.40893	2.427000	0.82271	0.563000	0.77884	GCT		0.682	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		3	27	0	0	0	0.115264	0	3	27					A	85401117	G	A	85401117	3	1	313	1	0	0	0	0	1	0	0	0	546	1203	42	2	3776	2	ALPK3	15	85401117	Missense_Mutation	SNP	G	TCGA-EM-A3AK-01A-11D-A202-08	40151949	85401117	17130275	14	6630											
CFD	1675	broad.mit.edu	37	chr19	860954	860954	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacgtgctccgcgcagtgccCcacccggacagccagcccga	12	19	0	0			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr19:860954C>A	ENST00000327726.6	+	3	543	c.306C>A	c.(304-306)ccC>ccA	p.P102P	CFD_ENST00000592860.1_Silent_p.P109P	NM_001928.2	NP_001919.2	P00746	CFAD_HUMAN	complement factor D (adipsin)	102	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)						Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GCGCAGTGCCCCACCCGGACA	0.721																																						ENST00000327726.6																			0											c.(304-306)ccC>ccA		complement factor D (adipsin)							21	19	20					19																	860954		2191	4282	6473	SO:0001819	synonymous_variant	1675				complement activation, alternative pathway|platelet activation|platelet degranulation|proteolysis	platelet alpha granule lumen	serine-type endopeptidase activity	g.chr19:860954C>A	M84526	CCDS12046.1	19p13.3	2014-09-17	2006-02-10	2006-02-10		ENSG00000197766		"Complement system"	2771	protein-coding gene	gene with protein product		134350	"D component of complement (adipsin)", "properdin factor D"	DF, PFD		1374388	Standard	NM_001928		Approved	ADN	uc002lqc.3	P00746		ENST00000327726.6:c.306C>A	19.37:g.860954C>A						CFD_ENST00000592860.1_Silent_p.P109P	p.P102P	NM_001928.2	NP_001919.2	P00746	CFAD_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)	3	543	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	102			Peptidase S1.		B4DV76|Q5U5S1|Q86VJ5|Q8N4E0|Q8WZB4	Silent	SNP	ENST00000327726.6	37	c.306C>A	CCDS12046.1																																																																																				0.721	CFD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457891.2	NM_001928		3	20	1	0	0.00909568	0.009096	0.0121276	3	20					A	860954	C	A	860954	2	1	313	1	0	0	0	0	0	0	0	1	3281	610	22	4		4	CFD	19	860954	Silent	SNP	C	TCGA-EM-A3AK-01A-11D-A202-08		860954	58268029	15	6631											
ZNF799	90576	broad.mit.edu	37	chr19	12502822	12502822	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacattcatgatactcataTggtttgtgcccagcaccaac	6	13	2	1			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr19:12502822T>C	ENST00000430385.3	-	4	590	c.390A>G	c.(388-390)ccA>ccG	p.P130P	CTD-3105H18.14_ENST00000435033.1_Intron|CTD-3105H18.16_ENST00000595562.1_Silent_p.P130P|ZNF799_ENST00000419318.1_Silent_p.P98P	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	130					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(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						GATACTCATATGGTTTGTGCC	0.443																																						ENST00000419318.1																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(292-294)ccA>ccG		zinc finger protein 799							169	155	159					19																	12502822		2203	4300	6503	SO:0001819	synonymous_variant	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12502822T>C	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"Zinc fingers, C2H2-type", "-"	28071	protein-coding gene	gene with protein product			"zinc finger protein 842"	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.390A>G	19.37:g.12502822T>C						CTD-3105H18.16_ENST00000595562.1_Silent_p.P130P|CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Silent_p.P130P	p.P98P			Q96GE5	ZN799_HUMAN			4	1043	-			130						Silent	SNP	ENST00000430385.3	37	c.294A>G	CCDS45989.1																																																																																				0.443	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		5	139	0	0	0	0.014758	0	5	139					C	12502822	T	C	12502822	2	2	313	1	0	0	0	0	0	0	0	1	18163	1451	51	3		3	ZNF799	19	12502822	Silent	SNP	T	TCGA-EM-A3AK-01A-11D-A202-08	11641868	12502822	46626161	16	6632											
RHPN2	85415	broad.mit.edu	37	chr19	33493198	33493198	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtgaagtagtgggccagggCcgcgtagtggtgggccttca	18	8	1	1			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr19:33493198C>A	ENST00000254260.3	-	9	1095	c.1060G>T	c.(1060-1062)Gcc>Tcc	p.A354S	RHPN2_ENST00000400226.4_Missense_Mutation_p.A203S	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	354	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					TGGGCCAGGGCCGCGTAGTGG	0.642																																						ENST00000254260.3																			0				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44						c.(1060-1062)Gcc>Tcc		rhophilin, Rho GTPase binding protein 2							49	46	47					19																	33493198		2203	4300	6503	SO:0001583	missense	85415				signal transduction	perinuclear region of cytoplasm	protein binding	g.chr19:33493198C>A	AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.1060G>T	19.37:g.33493198C>A	ENSP00000254260:p.Ala354Ser					RHPN2_ENST00000400226.4_Missense_Mutation_p.A203S	p.A354S	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN			9	1095	-	Esophageal squamous(110;0.137)		354			BRO1.		B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	37	c.1060G>T	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.530200	0.45073	.	.	ENSG00000131941	ENST00000254260;ENST00000544458;ENST00000400226	T;T	0.31510	1.49;1.49	4.61	4.61	0.57282	BRO1 domain (3);	0.049943	0.85682	D	0.000000	T	0.27594	0.0678	L	0.35593	1.075	0.58432	D	0.999994	B	0.31655	0.334	B	0.34385	0.181	T	0.05209	-1.0899	10	0.26408	T	0.33	-19.8851	17.8058	0.88600	0.0:1.0:0.0:0.0	.	354	Q8IUC4	RHPN2_HUMAN	S	354;84;203	ENSP00000254260:A354S;ENSP00000402244:A203S	ENSP00000254260:A354S	A	-	1	0	RHPN2	38185038	0.997000	0.39634	0.915000	0.36163	0.488000	0.33401	3.585000	0.53943	2.255000	0.74692	0.455000	0.32223	GCC		0.642	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103		5	59	1	0	5.9392e-07	0.021553	8.48457e-07	5	59					A	33493198	C	A	33493198	3	1	313	1	0	0	0	0	1	0	0	0	13351	739	26	4	1028	4	RHPN2	19	33493198	Missense_Mutation	SNP	C	TCGA-EM-A3AK-01A-11D-A202-08	20990376	33493198	25635785	17	6633											
LILRB1	10859	broad.mit.edu	37	chr19	55143156	55143157	+	Frame_Shift_Del	DEL	TG	TG	-													ccatccatcacctgggaacaTgcagggcggtatcgctgtta					rs12462774|rs34880987|rs12460501|rs200526666	byFrequency	TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr19:55143156_55143157delTG	ENST00000396331.1	+	5	633_634	c.276_277delTG	c.(274-279)catgcafs	p.A93fs	LILRB1_ENST00000324602.7_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000434867.2_Frame_Shift_Del_p.A93fs|AC009892.1_ENST00000578908.1_RNA|LILRB1_ENST00000396327.3_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000396317.1_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000396321.2_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000427581.2_Frame_Shift_Del_p.A129fs|LILRB1_ENST00000418536.2_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000448689.1_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000396315.1_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000396332.4_Frame_Shift_Del_p.A93fs	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	93	Ig-like C2-type 1.		A -> T (in dbSNP:rs12460501). {ECO:0000269|PubMed:20600445}.		cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCTGGGAACATGCAGGGCGGTA	0.554										HNSCC(37;0.09)																												ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(274-279)cacafs		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1																																				SO:0001589	frameshift_variant	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55143156_55143157delTG	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.276_277delTG	19.37:g.55143156_55143157delTG	ENSP00000379622:p.Ala93fs	HNSCC(37;0.09)				LILRB1_ENST00000396317.1_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000448689.1_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000396332.4_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000434867.2_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000396327.3_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000324602.7_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000427581.2_Frame_Shift_Del_p.HA128fs|LILRB1_ENST00000396315.1_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000396321.2_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000418536.2_Frame_Shift_Del_p.HA92fs	p.HA92fs	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	5	633_634	+			92			Ig-like C2-type 1.		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Frame_Shift_Del	DEL	ENST00000396331.1	37	c.276_277delTG	CCDS42617.1																																																																																				0.554	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			8	136						8	136	---	---	---	---	-	55143157	TG	-	55143156	7	5	313	1	0	1	0	1	0	0	0	0	8790	1461	51	0	286	0	LILRB1	19	55143156	Frame_Shift_Del	DEL	TG	TCGA-EM-A3AK-01A-11D-A202-08	21649958	55143156	3985827	18	6634											
TRIM28	10155	broad.mit.edu	37	chr19	59060278	59060279	+	Splice_Site	INS	-	-	T													atgtgtcaggtgtgaaacggINStaagtatggcacctcccctg					rs111630223		TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr19:59060278_59060279insT	ENST00000253024.5	+	11	1698		c.e11+1		TRIM28_ENST00000341753.6_Splice_Site	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28						convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		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;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GTGTGAAACGGTAAGTATGGCA	0.564																																						ENST00000253024.5																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19						c.e11+1		tripartite motif containing 28																																				SO:0001630	splice_region_variant	10155				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding	g.chr19:59060278_59060279insT		CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	16384	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 157"	601742	"tripartite motif-containing 28"			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.1409+1->T	19.37:g.59060279_59060279dupT						TRIM28_ENST00000341753.6_Splice_Site		NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	11	1698	+		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)						O00677|Q7Z632|Q93040|Q96IM1	Splice_Site	INS	ENST00000253024.5	37		CCDS12985.1																																																																																				0.564	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1	NM_005762	Intron	15	80						15	80	---	---	---	---	T	59060279	-	T	59060278	8	5	313	1	0	1	1	0	0	0	1	0	16499	1275	44	0	1452	0	TRIM28	19	59060278	Splice_Site	INS	-	TCGA-EM-A3AK-01A-11D-A202-08	3917122	59060278	68705	19	6635											
ASXL1	171023	broad.mit.edu	37	chr20	31023131	31023131	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagggcttggtggctcatgCcctcctatgagggaaagtga	14	8	1	2			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr20:31023131C>T	ENST00000375687.4	+	13	3040	c.2616C>T	c.(2614-2616)tgC>tgT	p.C872C	ASXL1_ENST00000306058.5_Silent_p.C867C	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	872					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GTGGCTCATGCCCTCCTATGA	0.463			"F, N, Mis"		"MDS, CMML"																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"F, N, Mis"	additional sex combs like 1			L			"MDS, CMML"		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(2614-2616)tgC>tgT		additional sex combs like 1 (Drosophila)							162	165	164					20																	31023131		2203	4300	6503	SO:0001819	synonymous_variant	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31023131C>T	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.2616C>T	20.37:g.31023131C>T						ASXL1_ENST00000306058.5_Silent_p.C867C	p.C872C	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			13	3040	+			872					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	ENST00000375687.4	37	c.2616C>T	CCDS13201.1																																																																																				0.463	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		5	187	0	0	0	0.014758	0	5	187					T	31023131	C	T	31023131	2	4	313	1	0	0	0	0	0	0	0	1	1066	747	26	2		2	ASXL1	20	31023131	Silent	SNP	C	TCGA-EM-A3AK-01A-11D-A202-08		31023131	32002389	20	6636											
PRKD3	23683	broad.mit.edu	37	chr2	37496767	37496767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagttgcttacctccataaaCgatgccaaactggcctgaac	7	12	0	1			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr2:37496767C>T	ENST00000379066.1	-	13	2530	c.1768G>A	c.(1768-1770)Gtt>Att	p.V590I	PRKD3_ENST00000234179.2_Missense_Mutation_p.V590I			O94806	KPCD3_HUMAN	protein kinase D3	590	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				CCTCCATAAACGATGCCAAAC	0.368																																					Melanoma(80;621 1355 8613 11814 51767)	ENST00000379066.1																			0				breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1768-1770)Gtt>Att		protein kinase D3							89	83	85					2																	37496767		2203	4300	6503	SO:0001583	missense	23683				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr2:37496767C>T	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"Pleckstrin homology (PH) domain containing"	9408	protein-coding gene	gene with protein product		607077	"protein kinase C, nu"	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.1768G>A	2.37:g.37496767C>T	ENSP00000368356:p.Val590Ile					PRKD3_ENST00000234179.2_Missense_Mutation_p.V590I	p.V590I			O94806	KPCD3_HUMAN			13	2530	-		all_hematologic(82;0.21)	590			Protein kinase.		D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	c.1768G>A	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	C	32	5.185843	0.94885	.	.	ENSG00000115825	ENST00000379066;ENST00000234179;ENST00000443977	T;T;T	0.71579	-0.58;-0.58;-0.58	5.23	5.23	0.72850	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	0.85682	D	0.000000	D	0.86826	0.6026	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.99	D	0.88874	0.3335	10	0.87932	D	0	-19.5163	19.1746	0.93599	0.0:1.0:0.0:0.0	.	590;590	O94806-2;O94806	.;KPCD3_HUMAN	I	590;590;101	ENSP00000368356:V590I;ENSP00000234179:V590I;ENSP00000398743:V101I	ENSP00000234179:V590I	V	-	1	0	PRKD3	37350271	1.000000	0.71417	0.998000	0.56505	0.888000	0.51559	7.775000	0.85489	2.587000	0.87381	0.563000	0.77884	GTT		0.368	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		3	56	0	0	0	0.184627	0	3	56					T	37496767	C	T	37496767	3	4	314	1	0	0	0	0	1	0	0	0	12520	536	19	1	932	1	PRKD3	2	37496767	Missense_Mutation	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08		37496767	205702606	1	6637											
GOLGA4	2803	broad.mit.edu	37	chr3	37323489	37323489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacagaagctccagctccGggtgccctccgtggagtctt	12	14	1	1	rs7612972		TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr3:37323489G>A	ENST00000361924.2	+	3	577	c.203G>A	c.(202-204)cGg>cAg	p.R68Q	GOLGA4_ENST00000444882.1_Missense_Mutation_p.R68Q|GOLGA4_ENST00000356847.4_Missense_Mutation_p.R90Q|GOLGA4_ENST00000435830.2_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	68					Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTCCAGCTCCGGGTGCCCTCC	0.443																																						ENST00000361924.2																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(202-204)cGg>cAg		golgin A4							79	90	86					3																	37323489		2203	4300	6503	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37323489G>A	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.203G>A	3.37:g.37323489G>A	ENSP00000354486:p.Arg68Gln					GOLGA4_ENST00000356847.4_Missense_Mutation_p.R90Q|GOLGA4_ENST00000444882.1_Missense_Mutation_p.R68Q|GOLGA4_ENST00000435830.2_Intron	p.R68Q	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN			3	577	+			68					F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.203G>A	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	32	5.128376	0.94473	.	.	ENSG00000144674	ENST00000361924;ENST00000444882;ENST00000356847;ENST00000450863	T;T	0.24723	1.87;1.84	5.68	5.68	0.88126	.	0.000000	0.32736	N	0.005713	T	0.47857	0.1468	L	0.50333	1.59	0.42190	D	0.991729	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.87578	0.922;0.996;0.996;0.998	T	0.18967	-1.0320	10	0.37606	T	0.19	.	19.786	0.96437	0.0:0.0:1.0:0.0	rs7612972	68;90;68;90	Q86W71;F8W8Q7;Q13439;E7EVX2	.;.;GOGA4_HUMAN;.	Q	68;68;90;90	ENSP00000354486:R68Q;ENSP00000349305:R90Q	ENSP00000349305:R90Q	R	+	2	0	GOLGA4	37298493	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.071000	0.64382	2.676000	0.91093	0.563000	0.77884	CGG		0.443	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		3	92	0	0	0	0.150653	0	3	92					A	37323489	G	A	37323489	3	1	314	1	0	0	0	0	1	0	0	0	6555	1116	39	1	283	1	GOLGA4	3	37323489	Missense_Mutation	SNP	G	TCGA-EM-A3AL-01A-11D-A202-08		37323489	160698941	2	6638											
GPR156	165829	broad.mit.edu	37	chr3	119886716	119886716	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaactaacccgtgaccgccgCtctgggggctcctctgagtt	12	14	2	2			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr3:119886716C>A	ENST00000464295.1	-	10	2053	c.1608G>T	c.(1606-1608)gaG>gaT	p.E536D	GPR156_ENST00000461057.1_Missense_Mutation_p.E532D|GPR156_ENST00000315843.3_Missense_Mutation_p.E536D			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	536						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GTGACCGCCGCTCTGGGGGCT	0.592																																						ENST00000464295.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32						c.(1606-1608)gaG>gaT		G protein-coupled receptor 156							101	121	114					3																	119886716		2202	4300	6502	SO:0001583	missense	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119886716C>A	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"GPCR / Class C : Orphans"	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.1608G>T	3.37:g.119886716C>A	ENSP00000417261:p.Glu536Asp					GPR156_ENST00000461057.1_Missense_Mutation_p.E532D|GPR156_ENST00000315843.3_Missense_Mutation_p.E536D	p.E536D			Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	10	2053	-			536					B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	ENST00000464295.1	37	c.1608G>T	CCDS2997.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.213543	0.39102	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	T;T;T	0.27557	1.66;1.66;1.66	5.28	3.49	0.39957	.	1.012330	0.07924	N	0.976416	T	0.27832	0.0685	L	0.56769	1.78	0.09310	N	1	P;P	0.38922	0.651;0.651	B;B	0.27608	0.081;0.081	T	0.13899	-1.0492	9	.	.	.	0.5253	10.6155	0.45447	0.0:0.8465:0.0:0.1535	.	532;536	E9PFZ4;Q8NFN8	.;GP156_HUMAN	D	536;536;532	ENSP00000417261:E536D;ENSP00000324553:E536D;ENSP00000418758:E532D	.	E	-	3	2	GPR156	121369406	0.073000	0.21202	0.002000	0.10522	0.013000	0.08279	1.260000	0.32968	0.804000	0.34136	0.563000	0.77884	GAG		0.592	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002		6	315	1	0	0.0215528	0.217242	0.0231298	6	315					A	119886716	C	A	119886716	3	1	314	1	0	0	0	0	1	0	0	0	6661	796	28	4	840	4	GPR156	3	119886716	Missense_Mutation	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08	82563227	119886716	78135714	3	6639											
LAMP3	27074	broad.mit.edu	37	chr3	182841901	182841901	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtatccagatgattgacaccTtaggcggattttatagacac	9	8	0	4	rs182955501		TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr3:182841901T>A	ENST00000265598.3	-	6	1474	c.1219A>T	c.(1219-1221)Agg>Tgg	p.R407W	LAMP3_ENST00000466939.1_Missense_Mutation_p.R383W	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	407					cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			GATTGACACCTTAGGCGGATT	0.458																																						ENST00000265598.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28						c.(1219-1221)Agg>Tgg		lysosomal-associated membrane protein 3							137	129	131					3																	182841901		2203	4300	6503	SO:0001583	missense	27074				cell proliferation	integral to membrane|lysosomal membrane		g.chr3:182841901T>A	AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"CD molecules"	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.1219A>T	3.37:g.182841901T>A	ENSP00000265598:p.Arg407Trp					LAMP3_ENST00000466939.1_Missense_Mutation_p.R383W	p.R407W	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)		6	1474	-	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		407					D3DNS4|O94781|Q8NEC8	Missense_Mutation	SNP	ENST00000265598.3	37	c.1219A>T	CCDS3242.1	.	.	.	.	.	.	.	.	.	.	T	19.33	3.807035	0.70797	.	.	ENSG00000078081	ENST00000265598;ENST00000466939	T;T	0.46063	0.88;0.88	5.92	5.92	0.95590	.	0.300884	0.28754	N	0.014258	T	0.63604	0.2525	M	0.74881	2.28	0.09310	N	1	D	0.65815	0.995	D	0.74023	0.982	T	0.61108	-0.7129	10	0.87932	D	0	-4.9155	12.7552	0.57331	0.0:0.0:0.0:1.0	.	407	Q9UQV4	LAMP3_HUMAN	W	407;383	ENSP00000265598:R407W;ENSP00000418912:R383W	ENSP00000265598:R407W	R	-	1	2	LAMP3	184324595	0.003000	0.15002	0.036000	0.18154	0.732000	0.41865	1.137000	0.31479	2.270000	0.75569	0.459000	0.35465	AGG		0.458	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350863.1			5	145	0	0	0	0.217242	0	5	145					A	182841901	T	A	182841901	3	1	314	1	0	0	0	0	1	0	0	0	8619	1608	56	5	35	5	LAMP3	3	182841901	Missense_Mutation	SNP	T	TCGA-EM-A3AL-01A-11D-A202-08	62955185	182841901	15180529	4	6640											
FRYL	285527	broad.mit.edu	37	chr4	48501632	48501632	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgtctgatgatggaaatatAtatgtaacagtgtctgtaca	10	5	2	2			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr4:48501632A>G	ENST00000503238.1	-	61	8848	c.8849T>C	c.(8848-8850)aTa>aCa	p.I2950T	FRYL_ENST00000507873.2_Missense_Mutation_p.I340T|FRYL_ENST00000264319.7_Missense_Mutation_p.I340T|FRYL_ENST00000358350.4_Missense_Mutation_p.I2950T|FRYL_ENST00000537810.1_Missense_Mutation_p.I2950T			O94915	FRYL_HUMAN	FRY-like	2950					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATGGAAATATATATGTAACAG	0.418																																						ENST00000537810.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(8848-8850)aTa>aCa		FRY-like							121	115	117					4																	48501632		1867	4107	5974	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48501632A>G	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.8849T>C	4.37:g.48501632A>G	ENSP00000426064:p.Ile2950Thr					FRYL_ENST00000507873.2_Missense_Mutation_p.I340T|FRYL_ENST00000264319.7_Missense_Mutation_p.I340T|FRYL_ENST00000503238.1_Missense_Mutation_p.I2950T|FRYL_ENST00000358350.4_Missense_Mutation_p.I2950T	p.I2950T			O94915	FRYL_HUMAN			64	9453	-			2950					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.8849T>C	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	A	18.48	3.632408	0.67015	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000264319;ENST00000507873	T;T;T	0.27104	1.7;1.7;1.69	5.63	5.63	0.86233	.	0.000000	0.64402	U	0.000001	T	0.49558	0.1564	M	0.62723	1.935	0.80722	D	1	P;D;D	0.89917	0.945;0.982;1.0	P;D;D	0.87578	0.83;0.918;0.998	T	0.50642	-0.8804	10	0.72032	D	0.01	.	15.8208	0.78644	1.0:0.0:0.0:0.0	.	2950;2950;340	O94915;F5GX82;O94915-2	FRYL_HUMAN;.;.	T	2950;2950;2950;340;340	ENSP00000426064:I2950T;ENSP00000351113:I2950T;ENSP00000441114:I2950T	ENSP00000264319:I340T	I	-	2	0	FRYL	48196389	1.000000	0.71417	0.914000	0.36105	0.698000	0.40448	9.335000	0.96500	2.136000	0.66102	0.397000	0.26171	ATA		0.418	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			4	98	0	0	0	0.150653	0	4	98					G	48501632	A	G	48501632	3	3	314	1	0	0	0	0	1	0	0	0	6064	449	16	3	196	3	FRYL	4	48501632	Missense_Mutation	SNP	A	TCGA-EM-A3AL-01A-11D-A202-08		48501632	142652644	5	6641											
MRPS30	10884	broad.mit.edu	37	chr5	44809124	44809124	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgaggctttcattgcacacCgcggctaatgccgccgccac	10	17	1	0			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr5:44809124C>T	ENST00000507110.1	+	1	98	c.60C>T	c.(58-60)acC>acT	p.T20T	RP11-53O19.1_ENST00000514597.1_RNA|RP11-53O19.1_ENST00000503452.1_RNA|RP11-53O19.1_ENST00000508123.1_RNA|RP11-53O19.1_ENST00000505302.1_RNA|RP11-53O19.1_ENST00000508945.1_RNA|RP11-53O19.1_ENST00000503179.1_RNA|RP11-53O19.1_ENST00000505401.1_RNA|RP11-53O19.1_ENST00000505637.1_RNA	NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	20					apoptotic process (GO:0006915)|translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					CATTGCACACCGCGGCTAATG	0.647																																						ENST00000507110.1																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20						c.(58-60)acC>acT		mitochondrial ribosomal protein S30							11	12	11					5																	44809124		2160	4252	6412	SO:0001819	synonymous_variant	10884				apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr5:44809124C>T	AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996		"Mitochondrial ribosomal proteins / small subunits"	8769	protein-coding gene	gene with protein product		611991		PDCD9		10640817, 11279123	Standard	NM_016640		Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.60C>T	5.37:g.44809124C>T							p.T20T	NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN			1	98	+	Lung NSC(6;8.08e-07)		20					Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Silent	SNP	ENST00000507110.1	37	c.60C>T	CCDS3951.1																																																																																				0.647	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214033.2	NM_016640		8	9	0	0	0	0.27861	0	8	9					T	44809124	C	T	44809124	2	4	314	1	0	0	0	0	0	0	0	1	9840	639	23	1		1	MRPS30	5	44809124	Silent	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08		44809124	136106136	6	6642											
NAIP	4671	broad.mit.edu	37	chr5	70308276	70308276	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctagcctcctcttcttggTacctcattttacctcctctc	4	16	5	0			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr5:70308276T>C	ENST00000517649.1	-	4	757	c.467A>G	c.(466-468)tAc>tGc	p.Y156C	NAIP_ENST00000503719.2_Intron|NAIP_ENST00000508426.2_Missense_Mutation_p.Y156C|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000194097.4_Missense_Mutation_p.Y156C	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	156					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|metal ion binding (GO:0046872)			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CTCTTCTTGGTACCTCATTTT	0.468																																						ENST00000517649.1																			0				central_nervous_system(1)	1						c.(466-468)tAc>tGc		NLR family, apoptosis inhibitory protein							209	157	175					5																	70308276		2202	4296	6498	SO:0001583	missense	4671				anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding	g.chr5:70308276T>C	U19251	CCDS4009.1, CCDS43327.1	5q13.2	2010-06-16	2006-12-08	2006-12-08	ENSG00000249437	ENSG00000249437		"Baculoviral IAP repeat containing", "Nucleotide-binding domain and leucine rich repeat containing"	7634	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1", "NLR family, BIR domain containing 1"	600355	"baculoviral IAP repeat-containing 1"	BIRC1		7813013	Standard	NM_022892		Approved	NLRB1	uc003jyj.1	Q13075	OTTHUMG00000163318	ENST00000517649.1:c.467A>G	5.37:g.70308276T>C	ENSP00000428657:p.Tyr156Cys					NAIP_ENST00000508426.2_Missense_Mutation_p.Y156C|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000194097.4_Missense_Mutation_p.Y156C|NAIP_ENST00000503719.2_Intron	p.Y156C	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)	4	757	-		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)	156					B9EG72|E9PHD1|O75857|Q13730|Q59GI6|Q8TDZ4|Q99796	Missense_Mutation	SNP	ENST00000517649.1	37	c.467A>G	CCDS4009.1	.	.	.	.	.	.	.	.	.	.	t	8.868	0.948498	0.18356	.	.	ENSG00000249437	ENST00000517649;ENST00000194097;ENST00000508426	T;T;T	0.04551	3.6;3.6;3.6	3.26	3.26	0.37387	Baculoviral inhibition of apoptosis protein repeat (1);	.	.	.	.	T	0.04318	0.0119	L	0.29908	0.895	0.09310	N	1	B;P	0.41008	0.084;0.735	B;B	0.34385	0.012;0.181	T	0.37549	-0.9701	9	0.72032	D	0.01	.	11.4969	0.50413	0.0:0.0:0.0:1.0	.	156;156	E7EQW0;Q13075	.;BIRC1_HUMAN	C	156	ENSP00000428657:Y156C;ENSP00000443944:Y156C;ENSP00000429545:Y156C	ENSP00000443944:Y156C	Y	-	2	0	NAIP	70344032	0.563000	0.26594	0.015000	0.15790	0.410000	0.31052	2.179000	0.42528	1.722000	0.51474	0.358000	0.22013	TAC		0.468	NAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372649.6	NM_004536		3	124	0	0	0	0.115264	0	3	124					C	70308276	T	C	70308276	3	2	314	1	0	0	0	0	1	0	0	0	10147	1638	57	3	3800	3	NAIP	5	70308276	Missense_Mutation	SNP	T	TCGA-EM-A3AL-01A-11D-A202-08	25499152	70308276	110606984	7	6643											
OR2J2	26707	broad.mit.edu	37	chr6	29141930	29141930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtacccctttgtggacatcGcctagtggatcacttcttct	9	12	3	0			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr6:29141930G>A	ENST00000377167.2	+	1	620	c.518G>A	c.(517-519)cGc>cAc	p.R173H		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TGTGGACATCGCCTAGTGGAT	0.468																																						ENST00000377167.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						c.(517-519)cGc>cAc		olfactory receptor, family 2, subfamily J, member 2							194	175	181					6																	29141930		1946	4142	6088	SO:0001583	missense	26707				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29141930G>A		CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"GPCR / Class A : Olfactory receptors"	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.518G>A	6.37:g.29141930G>A	ENSP00000366372:p.Arg173His						p.R173H	NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN			1	620	+			173					A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Missense_Mutation	SNP	ENST00000377167.2	37	c.518G>A	CCDS43434.1	.	.	.	.	.	.	.	.	.	.	G	2.148	-0.395248	0.04899	.	.	ENSG00000204700	ENST00000377167	T	0.00107	8.72	2.3	-2.05	0.07321	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.16307	0.4	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.01635	-1.1307	9	0.21540	T	0.41	.	8.1128	0.30924	0.7892:0.0:0.2108:0.0	.	173	O76002	OR2J2_HUMAN	H	173	ENSP00000366372:R173H	ENSP00000366372:R173H	R	+	2	0	OR2J2	29249909	0.000000	0.05858	0.981000	0.43875	0.440000	0.31957	0.289000	0.18957	-0.483000	0.06772	0.205000	0.17691	CGC		0.468	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2			44	171	0	0	0	0.870114	0	44	171					A	29141930	G	A	29141930	3	1	314	1	0	0	0	0	1	0	0	0	11003	1087	38	1	520	1	OR2J2	6	29141930	Missense_Mutation	SNP	G	TCGA-EM-A3AL-01A-11D-A202-08		29141930	141973137	8	6644											
BAI3	577	broad.mit.edu	37	chr6	70034893	70034893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacacggcttataagaaaaCgctttttgtgccttggatgg	12	7	0	1			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr6:70034893C>T	ENST00000370598.1	+	21	3765	c.2944C>T	c.(2944-2946)Cgc>Tgc	p.R982C	BAI3_ENST00000238918.8_Missense_Mutation_p.R188C	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	982					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TATAAGAAAACGCTTTTTGTG	0.403																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(2944-2946)Cgc>Tgc		brain-specific angiogenesis inhibitor 3							192	184	187					6																	70034893		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70034893C>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2944C>T	6.37:g.70034893C>T	ENSP00000359630:p.Arg982Cys					BAI3_ENST00000238918.8_Missense_Mutation_p.R188C	p.R982C	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			21	3765	+		all_lung(197;0.212)	982					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.2944C>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	34	5.358423	0.95854	.	.	ENSG00000135298	ENST00000370598;ENST00000238918	T;T	0.37752	1.18;1.18	6.07	6.07	0.98685	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.63885	0.2549	M	0.86651	2.83	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.995;0.999	T	0.66972	-0.5788	10	0.66056	D	0.02	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	188;982;982	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	C	982;188	ENSP00000359630:R982C;ENSP00000238918:R188C	ENSP00000238918:R188C	R	+	1	0	BAI3	70091614	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.945000	0.70226	2.885000	0.99019	0.655000	0.94253	CGC		0.403	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			12	134	0	0	0	0.457914	0	12	134					T	70034893	C	T	70034893	3	4	314	1	0	0	0	0	1	0	0	0	1300	536	19	1	3018	1	BAI3	6	70034893	Missense_Mutation	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08	40892963	70034893	101080174	9	6645											
INHBA	3624	broad.mit.edu	37	chr7	41739665	41739665	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccttccaatgtcatcctctAtctccacatacccgttctcc	2	18	4	0			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr7:41739665A>G	ENST00000242208.4	-	2	554	c.308T>C	c.(307-309)aTa>aCa	p.I103T	INHBA_ENST00000442711.1_Missense_Mutation_p.I103T|AC005027.3_ENST00000416150.1_RNA|INHBA-AS1_ENST00000415848.2_RNA|INHBA-AS1_ENST00000422822.1_RNA|INHBA-AS1_ENST00000420821.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	103					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GTCATCCTCTATCTCCACATA	0.542										TSP Lung(11;0.080)																												ENST00000242208.4																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(307-309)aTa>aCa		inhibin, beta A							323	327	326					7																	41739665		2203	4300	6503	SO:0001583	missense	3624				cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	g.chr7:41739665A>G		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"Endogenous ligands"	6066	protein-coding gene	gene with protein product		147290	"inhibin, beta A (activin A, activin AB alpha polypeptide)"			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.308T>C	7.37:g.41739665A>G	ENSP00000242208:p.Ile103Thr	TSP Lung(11;0.080)				INHBA-AS1_ENST00000422822.1_RNA|INHBA-AS1_ENST00000415848.2_RNA|INHBA-AS1_ENST00000420821.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.I103T|AC005027.3_ENST00000416150.1_RNA	p.I103T	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN			2	554	-			103					Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	c.308T>C	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	A	16.02	3.004573	0.54254	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.64803	-0.12;-0.12	5.49	5.49	0.81192	Transforming growth factor-beta, N-terminal (1);	0.450164	0.25130	N	0.032919	T	0.59918	0.2229	L	0.58101	1.795	0.58432	D	0.999997	B	0.23377	0.084	B	0.20384	0.029	T	0.57100	-0.7869	10	0.38643	T	0.18	-4.4589	15.5949	0.76572	1.0:0.0:0.0:0.0	.	103	P08476	INHBA_HUMAN	T	103	ENSP00000242208:I103T;ENSP00000397197:I103T	ENSP00000242208:I103T	I	-	2	0	INHBA	41706190	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.170000	0.77587	2.083000	0.62718	0.533000	0.62120	ATA		0.542	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			6	535	0	0	0	0.248553	0	6	535					G	41739665	A	G	41739665	3	3	314	1	0	0	0	0	1	0	0	0	7741	449	16	3	980	3	INHBA	7	41739665	Missense_Mutation	SNP	A	TCGA-EM-A3AL-01A-11D-A202-08		41739665	117398998	10	6646											
ST18	9705	broad.mit.edu	37	chr8	53084925	53084925	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agaatgaatcagaaagcactCgtctgcttcatcgctctctg	8	11	4	3	rs566471582		TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr8:53084925C>A	ENST00000276480.7	-	10	1179	c.496G>T	c.(496-498)Gag>Tag	p.E166*		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	166					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGAAAGCACTCGTCTGCTTCA	0.398																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(496-498)Gag>Tag		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							117	106	110					8																	53084925		2203	4300	6503	SO:0001587	stop_gained	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53084925C>A	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.496G>T	8.37:g.53084925C>A	ENSP00000276480:p.Glu166*						p.E166*	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			10	1179	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	166					Q17RY1	Nonsense_Mutation	SNP	ENST00000276480.7	37	c.496G>T	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	C	39	7.449910	0.98292	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	.	.	.	5.63	5.63	0.86233	.	0.763532	0.12681	N	0.447974	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-10.4236	19.6835	0.95972	0.0:1.0:0.0:0.0	.	.	.	.	X	166	.	ENSP00000276480:E166X	E	-	1	0	ST18	53247478	0.996000	0.38824	0.064000	0.19789	0.087000	0.18053	4.485000	0.60279	2.650000	0.89964	0.655000	0.94253	GAG		0.398	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			3	87	1	0	0.115264	0.115264	0.120753	3	87					A	53084925	C	A	53084925	4	1	314	1	0	0	0	0	0	1	0	0	15211	893	31	4	2715	4	ST18	8	53084925	Nonsense_Mutation	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08		53084925	93279097	11	6647											
ENPP2	5168	broad.mit.edu	37	chr8	120606083	120606083	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccacaattttgtcgatttcCctcagaggatttgtcatcta	6	11	3	1			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr8:120606083C>G	ENST00000075322.6	-	12	1048	c.990G>C	c.(988-990)agG>agC	p.R330S	ENPP2_ENST00000427067.2_Missense_Mutation_p.R326S|ENPP2_ENST00000522826.1_Missense_Mutation_p.R330S|ENPP2_ENST00000259486.6_Missense_Mutation_p.R382S|ENPP2_ENST00000522167.1_5'Flank	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	330					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGTCGATTTCCCTCAGAGGAT	0.423																																					Melanoma(20;305 879 2501 4818 31020)	ENST00000427067.2																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(976-978)agG>agC		ectonucleotide pyrophosphatase/phosphodiesterase 2							255	238	244					8																	120606083		2203	4300	6503	SO:0001583	missense	0				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120606083C>G	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"autotaxin"	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.990G>C	8.37:g.120606083C>G	ENSP00000075322:p.Arg330Ser					ENPP2_ENST00000259486.6_Missense_Mutation_p.R382S|ENPP2_ENST00000522826.1_Missense_Mutation_p.R330S|ENPP2_ENST00000075322.6_Missense_Mutation_p.R330S	p.R326S			Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		12	1158	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		330					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.978G>C	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980584	0.74474	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522826;ENST00000075322	T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73	5.5	3.71	0.42584	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.095715	0.64402	D	0.000001	T	0.73442	0.3587	L	0.39467	1.215	0.54753	D	0.999989	P;D;D	0.76494	0.929;0.999;0.99	P;D;P	0.65010	0.811;0.931;0.869	T	0.71623	-0.4537	10	0.48119	T	0.1	.	8.8198	0.35018	0.0:0.7137:0.0:0.2863	.	330;330;382	E9PHP7;Q13822;Q13822-2	.;ENPP2_HUMAN;.	S	382;326;330;330	ENSP00000259486:R382S;ENSP00000403315:R326S;ENSP00000428291:R330S;ENSP00000075322:R330S	ENSP00000075322:R330S	R	-	3	2	ENPP2	120675264	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.101000	0.50283	0.803000	0.34113	0.655000	0.94253	AGG		0.423	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			11	335	0	0	0	0.361761	0	11	335					G	120606083	C	G	120606083	3	3	314	1	0	0	0	0	1	0	0	0	5130	622	22	4	1736	4	ENPP2	8	120606083	Missense_Mutation	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08	67521158	120606083	25757939	12	6648											
GAS1	2619	broad.mit.edu	37	chr9	89560958	89560958	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cggggccgttgcccagctcgGcgccgaagcacaggcgggcc	17	16	0	0			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr9:89560958G>C	ENST00000298743.7	-	1	1146	c.737C>G	c.(736-738)gCc>gGc	p.A246G	RP11-276H19.1_ENST00000415801.1_lincRNA	NM_002048.2	NP_002039.2	P54826	GAS1_HUMAN	growth arrest-specific 1	246					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cerebellum morphogenesis (GO:0021587)|developmental growth (GO:0048589)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|eye morphogenesis (GO:0048592)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein processing (GO:0010955)|negative regulation of smoothened signaling pathway (GO:0045879)|odontogenesis (GO:0042476)|outer ear morphogenesis (GO:0042473)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|programmed cell death (GO:0012501)|regulation of apoptotic process (GO:0042981)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|regulation of smoothened signaling pathway (GO:0008589)	anchored component of plasma membrane (GO:0046658)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|lung(2)|skin(1)	4						GCCCAGCTCGGCGCCGAAGCA	0.701																																						ENST00000298743.7																			0				kidney(1)|lung(2)|skin(1)	4						c.(736-738)gCc>gGc		growth arrest-specific 1							14	16	15					9																	89560958		2183	4286	6469	SO:0001583	missense	2619				cell cycle arrest|negative regulation of S phase of mitotic cell cycle	anchored to plasma membrane		g.chr9:89560958G>C		CCDS6674.1	9q21.3-q22	2008-07-21			ENSG00000180447	ENSG00000180447			4165	protein-coding gene	gene with protein product	"Growth arrest-specific gene-1"	139185				8307588	Standard	NM_002048		Approved		uc004aox.4	P54826	OTTHUMG00000020141	ENST00000298743.7:c.737C>G	9.37:g.89560958G>C	ENSP00000298743:p.Ala246Gly						p.A246G	NM_002048.2	NP_002039.2	P54826	GAS1_HUMAN			1	1146	-			246					B9EGM4|Q6B086	Missense_Mutation	SNP	ENST00000298743.7	37	c.737C>G	CCDS6674.1	.	.	.	.	.	.	.	.	.	.	G	6.152	0.396197	0.11638	.	.	ENSG00000180447	ENST00000298743	D	0.83163	-1.69	4.49	4.49	0.54785	.	0.353063	0.21228	U	0.078027	T	0.65831	0.2729	N	0.14661	0.345	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.49082	-0.8976	10	0.18276	T	0.48	-5.9837	7.7042	0.28640	0.0886:0.1663:0.7451:0.0	.	246	P54826	GAS1_HUMAN	G	246	ENSP00000298743:A246G	ENSP00000298743:A246G	A	-	2	0	GAS1	88750778	0.722000	0.28017	0.990000	0.47175	0.280000	0.26924	1.812000	0.38952	2.046000	0.60703	0.549000	0.68633	GCC		0.701	GAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052928.1	NM_002048		4	28	0	0	0	0.248553	0	4	28					C	89560958	G	C	89560958	3	2	314	1	0	0	0	0	1	0	0	0	6244	1203	42	4	304	4	GAS1	9	89560958	Missense_Mutation	SNP	G	TCGA-EM-A3AL-01A-11D-A202-08		89560958	51652473	13	6649											
RPL12	6136	broad.mit.edu	37	chr9	130213590	130213590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgttggggtcgaacttcgGcggcatggtggaggcggctg	19	9	0	0			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr9:130213590G>A	ENST00000361436.5	-	1	94	c.7C>T	c.(7-9)Ccg>Tcg	p.P3S	LRSAM1_ENST00000373322.1_5'Flank|LRSAM1_ENST00000373324.4_5'Flank|LRSAM1_ENST00000300417.6_5'Flank|RPL12_ENST00000536368.1_Missense_Mutation_p.P3S|SNORA65_ENST00000364432.1_RNA|LRSAM1_ENST00000323301.4_5'Flank|RPL12_ENST00000497322.1_5'UTR	NM_000976.3	NP_000967.1	P30050	RL12_HUMAN	ribosomal protein L12	3					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	4						TCGAACTTCGGCGGCATGGTG	0.657																																						ENST00000361436.5																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(7-9)Ccg>Tcg		ribosomal protein L12							30	33	32					9																	130213590		2199	4296	6495	SO:0001583	missense	6136				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	g.chr9:130213590G>A		CCDS6872.1	9q34	2011-04-06			ENSG00000197958	ENSG00000197958		"L ribosomal proteins"	10302	protein-coding gene	gene with protein product		180475				8441690	Standard	NM_000976		Approved	L12	uc004bqy.2	P30050	OTTHUMG00000020704	ENST00000361436.5:c.7C>T	9.37:g.130213590G>A	ENSP00000354739:p.Pro3Ser					RPL12_ENST00000536368.1_Missense_Mutation_p.P3S|RPL12_ENST00000497322.1_5'UTR	p.P3S	NM_000976.3	NP_000967.1	P30050	RL12_HUMAN			1	94	-			3					Q5VVV2|Q6PB27	Missense_Mutation	SNP	ENST00000361436.5	37	c.7C>T	CCDS6872.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.481989	0.84747	.	.	ENSG00000197958	ENST00000361436;ENST00000536368	.	.	.	5.58	4.67	0.58626	Ribosomal protein L11, N-terminal (2);	0.000000	0.85682	U	0.000000	T	0.76955	0.4060	M	0.92077	3.27	0.58432	D	0.999999	B;B	0.22003	0.063;0.034	B;B	0.33454	0.164;0.057	T	0.77365	-0.2615	9	0.56958	D	0.05	0.0669	13.4653	0.61249	0.0:0.0:0.842:0.158	.	3;3	P30050-2;P30050	.;RL12_HUMAN	S	3	.	ENSP00000354739:P3S	P	-	1	0	RPL12	129253411	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.469000	0.97679	1.333000	0.45449	0.561000	0.74099	CCG		0.657	RPL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054189.1			6	67	0	0	0	0.27861	0	6	67					A	130213590	G	A	130213590	3	1	314	1	0	0	0	0	1	0	0	0	13558	1203	42	2	518	2	RPL12	9	130213590	Missense_Mutation	SNP	G	TCGA-EM-A3AL-01A-11D-A202-08	40652632	130213590	10999841	14	6650											
PAWR	5074	broad.mit.edu	37	chr12	80083954	80083954	+	Frame_Shift_Del	DEL	T	T	-													gcatcttctcgcgtttcgccTtccactcctccaggaagtct					rs200495794		TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr12:80083954delT	ENST00000328827.4	-	2	443	c.71delA	c.(70-72)aagfs	p.K24fs	PAWR_ENST00000547571.1_5'Flank|RP11-530C5.1_ENST00000551995.1_lincRNA	NM_002583.2	NP_002574.2	Q96IZ0	PAWR_HUMAN	PRKC, apoptosis, WT1, regulator	24					actin filament bundle assembly (GO:0051017)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|interleukin-2 biosynthetic process (GO:0042094)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|positive regulation of apoptotic process (GO:0043065)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)|leucine zipper domain binding (GO:0043522)|transcription corepressor activity (GO:0003714)			NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						GCGTTTCGCCTTCCACTCCTC	0.731																																						ENST00000328827.4																			0				NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						c.(70-72)agfs		PRKC, apoptosis, WT1, regulator							3	4	4					12																	80083954		2049	4081	6130	SO:0001589	frameshift_variant	5074				actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity	g.chr12:80083954delT	U63809	CCDS31863.1	12q21.2	2013-03-07			ENSG00000177425	ENSG00000177425			8614	protein-coding gene	gene with protein product	"prostate apoptosis response-4"	601936				8943350, 9790775	Standard	NM_002583		Approved	par-4, PAR4	uc001syx.3	Q96IZ0	OTTHUMG00000170080	ENST00000328827.4:c.71delA	12.37:g.80083954delT	ENSP00000328088:p.Lys24fs					RP11-530C5.1_ENST00000551995.1_lincRNA	p.K24fs	NM_002583.2	NP_002574.2	Q96IZ0	PAWR_HUMAN			2	443	-			24					O75796|Q6FHY9|Q8N700	Frame_Shift_Del	DEL	ENST00000328827.4	37	c.71delA	CCDS31863.1																																																																																				0.731	PAWR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407175.1	NM_002583		2	4						2	4	---	---	---	---	-	80083954	T	-	80083954	7	5	314	1	0	1	0	1	0	0	0	0	11477	1609	56	0	975	0	PAWR	12	80083954	Frame_Shift_Del	DEL	T	TCGA-EM-A3AL-01A-11D-A202-08		80083954	53767941	15	6651											
DCT	1638	broad.mit.edu	37	chr13	95121126	95121126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgttgtgtggtgatcaCgtagtcggggtgtactctct	14	8	2	1			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr13:95121126C>T	ENST00000377028.5	-	2	882	c.469G>A	c.(469-471)Gtg>Atg	p.V157M	DCT_ENST00000490854.1_5'Flank|DCT_ENST00000446125.1_Missense_Mutation_p.V157M	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	157					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GTGGTGATCACGTAGTCGGGG	0.517																																						ENST00000377028.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50						c.(469-471)Gtg>Atg		dopachrome tautomerase							219	215	217					13																	95121126		2203	4300	6503	SO:0001583	missense	1638				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	g.chr13:95121126C>T	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"dopachrome delta-isomerase"	191275	"tyrosine-related protein 2"	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.469G>A	13.37:g.95121126C>T	ENSP00000366227:p.Val157Met					DCT_ENST00000446125.1_Missense_Mutation_p.V157M	p.V157M	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)	2	882	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)	157					Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	c.469G>A	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.477301	0.63849	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.84873	-1.91;-1.91	5.69	4.85	0.62838	Uncharacterised domain, di-copper centre (2);	0.114822	0.64402	D	0.000010	D	0.91168	0.7218	M	0.82433	2.59	0.58432	D	0.999998	D;D	0.76494	0.974;0.999	B;P	0.59761	0.36;0.863	D	0.91661	0.5342	9	.	.	.	-16.0353	14.3176	0.66463	0.0:0.9292:0.0:0.0708	.	157;157	Q09GT4;P40126	.;TYRP2_HUMAN	M	157	ENSP00000366227:V157M;ENSP00000392762:V157M	.	V	-	1	0	DCT	93919127	0.993000	0.37304	0.998000	0.56505	0.385000	0.30292	3.057000	0.49931	1.403000	0.46800	0.655000	0.94253	GTG		0.517	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			96	180	0	0	0	0.870114	0	96	180					T	95121126	C	T	95121126	3	4	314	1	0	0	0	0	1	0	0	0	4304	536	19	1	1225	1	DCT	13	95121126	Missense_Mutation	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08		95121126	20048752	16	6652											
ADSSL1	122622	broad.mit.edu	37	chr14	105212622	105212622	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgagtatgaaacgctgccTgggtggaaagcagacaccac	13	9	0	3			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr14:105212622T>G	ENST00000555674.1	+	1	230	c.39T>G	c.(37-39)ccT>ccG	p.P13P	ADSSL1_ENST00000330877.2_Silent_p.P407P|ADSSL1_ENST00000332972.5_Silent_p.P450P|ADSSL1_ENST00000556623.1_Silent_p.P13P|ADSSL1_ENST00000554657.1_3'UTR					adenylosuccinate synthase like 1											central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		AAACGCTGCCTGGGTGGAAAG	0.587																																						ENST00000332972.5																			0				central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11						c.(1348-1350)ccT>ccG		adenylosuccinate synthase like 1	L-Aspartic Acid(DB00128)						72	68	69					14																	105212622		2203	4300	6503	SO:0001819	synonymous_variant	122622				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	g.chr14:105212622T>G	AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000555674.1:c.39T>G	14.37:g.105212622T>G						ADSSL1_ENST00000330877.2_Silent_p.P407P|ADSSL1_ENST00000554657.1_3'UTR|ADSSL1_ENST00000555674.1_Silent_p.P13P|ADSSL1_ENST00000556623.1_Silent_p.P13P	p.P450P	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	12	1509	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	407						Silent	SNP	ENST00000555674.1	37	c.1350T>G																																																																																					0.587	ADSSL1-010	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000410540.1			7	79	0	0	0	0.307466	0	7	79					G	105212622	T	G	105212622	2	3	314	1	0	0	0	0	0	0	0	1	348	1567	55	5		5	ADSSL1	14	105212622	Silent	SNP	T	TCGA-EM-A3AL-01A-11D-A202-08		105212622	2136918	17	6653											
SLC12A6	9990	broad.mit.edu	37	chr15	34537938	34537938	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggcaatagcttgtagcaGcctcggtgcacctgtgaggc	13	11	0	1			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr15:34537938G>A	ENST00000354181.3	-	14	2272	c.1780C>T	c.(1780-1782)Ctg>Ttg	p.L594L	SLC12A6_ENST00000458406.2_Silent_p.L535L|SLC12A6_ENST00000397707.2_Silent_p.L579L|SLC12A6_ENST00000560164.1_Silent_p.L406L|SLC12A6_ENST00000290209.5_Silent_p.L543L|SLC12A6_ENST00000558589.1_Silent_p.L585L|SLC12A6_ENST00000558667.1_Silent_p.L594L|SLC12A6_ENST00000451844.2_Silent_p.L406L|SLC12A6_ENST00000560611.1_Silent_p.L594L|SLC12A6_ENST00000397702.2_Silent_p.L535L			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	594					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GCTTGTAGCAGCCTCGGTGCA	0.473																																						ENST00000354181.3																			0				central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45						c.(1780-1782)Ctg>Ttg		solute carrier family 12 (potassium/chloride transporter), member 6	Potassium Chloride(DB00761)						84	75	78					15																	34537938		2201	4298	6499	SO:0001819	synonymous_variant	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34537938G>A	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"Solute carriers"	10914	protein-coding gene	gene with protein product		604878	"agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.1780C>T	15.37:g.34537938G>A						SLC12A6_ENST00000560611.1_Silent_p.L594L|SLC12A6_ENST00000558667.1_Silent_p.L594L|SLC12A6_ENST00000558589.1_Silent_p.L585L|SLC12A6_ENST00000458406.2_Silent_p.L535L|SLC12A6_ENST00000451844.2_Silent_p.L406L|SLC12A6_ENST00000397702.2_Silent_p.L535L|SLC12A6_ENST00000397707.2_Silent_p.L579L|SLC12A6_ENST00000290209.5_Silent_p.L543L|SLC12A6_ENST00000560164.1_Silent_p.L406L	p.L594L			Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	14	2272	-		all_lung(180;2.78e-08)	594					A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Silent	SNP	ENST00000354181.3	37	c.1780C>T	CCDS58352.1																																																																																				0.473	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		5	89	0	0	0	0.184627	0	5	89					A	34537938	G	A	34537938	2	1	314	1	0	0	0	0	0	0	0	1	14387	962	34	2		2	SLC12A6	15	34537938	Silent	SNP	G	TCGA-EM-A3AL-01A-11D-A202-08		34537938	67993454	18	6654											
NKD1	85407	broad.mit.edu	37	chr16	50666208	50666208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaggttccagggtgacagcCgcctggagcagtctggctgc	16	11	1	1			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr16:50666208C>T	ENST00000268459.3	+	9	936	c.712C>T	c.(712-714)Cgc>Tgc	p.R238C		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	238					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		GGGTGACAGCCGCCTGGAGCA	0.562																																						ENST00000268459.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23						c.(712-714)Cgc>Tgc		naked cuticle homolog 1 (Drosophila)							69	58	61					16																	50666208		2198	4300	6498	SO:0001583	missense	85407				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	g.chr16:50666208C>T	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"EF-hand domain containing"	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.712C>T	16.37:g.50666208C>T	ENSP00000268459:p.Arg238Cys						p.R238C	NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN		GBM - Glioblastoma multiforme(240;0.243)	9	936	+		all_cancers(37;0.229)	238					B2RC39|Q8WZ08	Missense_Mutation	SNP	ENST00000268459.3	37	c.712C>T	CCDS10743.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827943	0.71143	.	.	ENSG00000140807	ENST00000268459	T	0.64260	-0.09	5.14	4.17	0.49024	.	0.434585	0.26366	N	0.024796	T	0.37679	0.1012	N	0.03608	-0.345	0.35483	D	0.798335	D	0.57257	0.979	B	0.43123	0.409	T	0.53704	-0.8401	10	0.56958	D	0.05	-7.736	8.5865	0.33662	0.2219:0.6398:0.1383:0.0	.	238	Q969G9	NKD1_HUMAN	C	238	ENSP00000268459:R238C	ENSP00000268459:R238C	R	+	1	0	NKD1	49223709	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.563000	0.36364	1.145000	0.42336	0.563000	0.77884	CGC		0.562	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1			27	37	0	0	0	0.729181	0	27	37					T	50666208	C	T	50666208	3	4	314	1	0	0	0	0	1	0	0	0	10441	652	23	1	746	1	NKD1	16	50666208	Missense_Mutation	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08		50666208	39688545	19	6655											
PLD2	5338	broad.mit.edu	37	chr17	4719165	4719165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggaccttgcctatggccGctgggatgacctgcactacc	11	14	0	1			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr17:4719165G>A	ENST00000263088.6	+	14	1522	c.1391G>A	c.(1390-1392)cGc>cAc	p.R464H	PLD2_ENST00000572940.1_Missense_Mutation_p.R464H	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	464	Catalytic.|PLD phosphodiesterase 1. {ECO:0000255|PROSITE-ProRule:PRU00153}.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GCCTATGGCCGCTGGGATGAC	0.597											OREG0024105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263088.6																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(1390-1392)cGc>cAc		phospholipase D2	Choline(DB00122)						186	149	162					17																	4719165		2203	4300	6503	SO:0001583	missense	5338				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr17:4719165G>A	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"choline phosphatase 2"	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.1391G>A	17.37:g.4719165G>A	ENSP00000263088:p.Arg464His		OREG0024105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	621	PLD2_ENST00000572940.1_Missense_Mutation_p.R464H	p.R464H	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN			14	1522	+			464			Catalytic.|PLD phosphodiesterase 1.		I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Missense_Mutation	SNP	ENST00000263088.6	37	c.1391G>A	CCDS11057.1	.	.	.	.	.	.	.	.	.	.	G	35	5.597513	0.96602	.	.	ENSG00000129219	ENST00000263088	T	0.31510	1.49	5.58	5.58	0.84498	Phospholipase D/Transphosphatidylase (3);	0.000000	0.85682	D	0.000000	T	0.72581	0.3478	H	0.98466	4.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.981;0.999	D	0.83892	0.0285	10	0.87932	D	0	-11.2461	17.039	0.86483	0.0:0.0:1.0:0.0	.	321;464;464	B7Z905;O14939-2;O14939	.;.;PLD2_HUMAN	H	464	ENSP00000263088:R464H	ENSP00000263088:R464H	R	+	2	0	PLD2	4666131	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.344000	0.97050	2.619000	0.88677	0.655000	0.94253	CGC		0.597	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663		4	140	0	0	0	0.184627	0	4	140					A	4719165	G	A	4719165	3	1	314	1	0	0	0	0	1	0	0	0	12046	1087	38	1	1441	1	PLD2	17	4719165	Missense_Mutation	SNP	G	TCGA-EM-A3AL-01A-11D-A202-08		4719165	76476045	20	6656											
RHBDL3	162494	broad.mit.edu	37	chr17	30615975	30615975	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaattgaccgcaagtggtaCtatgacagctacacctgctg	10	10	0	2			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr17:30615975C>T	ENST00000269051.4	+	4	473	c.459C>T	c.(457-459)taC>taT	p.Y153Y	RHBDL3_ENST00000538145.1_Silent_p.Y145Y|RHBDL3_ENST00000536287.1_Silent_p.Y55Y	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	153						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				GCAAGTGGTACTATGACAGCT	0.622																																						ENST00000269051.4																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16						c.(457-459)taC>taT		rhomboid, veinlet-like 3 (Drosophila)							70	67	68					17																	30615975		2203	4300	6503	SO:0001819	synonymous_variant	162494				proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity	g.chr17:30615975C>T	AJ313480	CCDS32613.1	17q11.2	2013-01-10				ENSG00000141314		"EF-hand domain containing"	16502	protein-coding gene	gene with protein product			"rhomboid, veinlet-like 4 (Drosophila)"	RHBDL4		11900977	Standard	XM_006721733		Approved	VRHO	uc002hhe.1	P58872		ENST00000269051.4:c.459C>T	17.37:g.30615975C>T						RHBDL3_ENST00000536287.1_Silent_p.Y55Y|RHBDL3_ENST00000538145.1_Silent_p.Y145Y	p.Y153Y	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN			4	473	+		Breast(31;0.116)|Ovarian(249;0.182)	153					A6NMH1|Q495Y4|Q495Y5|Q495Y6	Silent	SNP	ENST00000269051.4	37	c.459C>T	CCDS32613.1																																																																																				0.622	RHBDL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447120.1	NM_138328		34	52	0	0	0	0.804634	0	34	52					T	30615975	C	T	30615975	2	4	314	1	0	0	0	0	0	0	0	1	13323	576	20	2		2	RHBDL3	17	30615975	Silent	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08	25896810	30615975	50579235	21	6657											
MRPS23	51649	broad.mit.edu	37	chr17	55918341	55918341	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ccttctgccaataaagccttCcctgtttccacaaataactt	3	14	1	0			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr17:55918341C>G	ENST00000313608.8	-	4	411	c.366G>C	c.(364-366)ggG>ggC	p.G122G	MRPS23_ENST00000578444.1_Silent_p.G122G	NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN	mitochondrial ribosomal protein S23	122					translation (GO:0006412)	intermediate filament cytoskeleton (GO:0045111)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|large_intestine(1)|lung(2)	5	Breast(9;8.75e-08)					ATAAAGCCTTCCCTGTTTCCA	0.398																																						ENST00000313608.8																			0				endometrium(2)|large_intestine(1)|lung(2)	5						c.(364-366)ggG>ggC		mitochondrial ribosomal protein S23							242	215	225					17																	55918341		2203	4300	6503	SO:0001819	synonymous_variant	51649				translation	intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome	g.chr17:55918341C>G	AB061206	CCDS11598.1	17q22-q23	2012-09-13				ENSG00000181610		"Mitochondrial ribosomal proteins / small subunits"	14509	protein-coding gene	gene with protein product		611985				11279123	Standard	NM_016070		Approved	MRP-S23, CGI-138, HSPC329	uc002ivc.3	Q9Y3D9		ENST00000313608.8:c.366G>C	17.37:g.55918341C>G						MRPS23_ENST00000578444.1_Silent_p.G122G	p.G122G	NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN			4	411	-	Breast(9;8.75e-08)		122					B2R6V3|Q96Q24|Q9BWH8|Q9P053	Silent	SNP	ENST00000313608.8	37	c.366G>C	CCDS11598.1																																																																																				0.398	MRPS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443301.1	NM_016070		3	144	0	0	0	0.115264	0	3	144					G	55918341	C	G	55918341	2	3	314	1	0	0	0	0	0	0	0	1	9834	842	30	4		4	MRPS23	17	55918341	Silent	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08	25302366	55918341	25276869	22	6658											
DTNA	1837	broad.mit.edu	37	chr18	32374191	32374191	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatcagcctcctccttaaCttcctgcttgcagcgtttga	6	15	1	1			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr18:32374191C>T	ENST00000399113.3	+	3	339	c.339C>T	c.(337-339)aaC>aaT	p.N113N	DTNA_ENST00000598334.1_Silent_p.N113N|DTNA_ENST00000315456.6_Silent_p.N113N|DTNA_ENST00000598774.1_Silent_p.N113N|DTNA_ENST00000283365.9_Silent_p.N113N|DTNA_ENST00000597599.1_Silent_p.N113N|DTNA_ENST00000554864.3_Silent_p.N113N|DTNA_ENST00000348997.5_Silent_p.N113N|DTNA_ENST00000596745.1_Silent_p.N113N|DTNA_ENST00000595022.1_Silent_p.N113N|DTNA_ENST00000269190.7_Silent_p.N113N|DTNA_ENST00000399121.5_Silent_p.N113N|DTNA_ENST00000269191.6_Silent_p.N113N|DTNA_ENST00000598142.1_Silent_p.N113N|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000444659.1_Silent_p.N113N			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	113	Interaction with MAGEE1. {ECO:0000250}.				neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						TCCTCCTTAACTTCCTGCTTG	0.473																																						ENST00000283365.9																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(337-339)aaC>aaT		dystrobrevin, alpha							217	170	186					18																	32374191		2203	4300	6503	SO:0001819	synonymous_variant	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32374191C>T	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"dystrophin-related protein 3"	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.339C>T	18.37:g.32374191C>T						DTNA_ENST00000596745.1_Silent_p.N113N|DTNA_ENST00000444659.1_Silent_p.N113N|DTNA_ENST00000315456.6_Silent_p.N113N|DTNA_ENST00000348997.5_Silent_p.N113N|DTNA_ENST00000269190.7_Silent_p.N113N|DTNA_ENST00000399113.3_Silent_p.N113N|DTNA_ENST00000269191.6_Silent_p.N113N|DTNA_ENST00000399121.5_Silent_p.N113N|DTNA_ENST00000595022.1_Silent_p.N113N|DTNA_ENST00000598334.1_Silent_p.N113N|DTNA_ENST00000554864.3_Silent_p.N113N|DTNA_ENST00000598142.1_Silent_p.N113N|DTNA_ENST00000598774.1_Silent_p.N113N|DTNA_ENST00000597599.1_Silent_p.N113N|DTNA_ENST00000399097.3_5'UTR	p.N113N	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN			5	690	+			113			Interaction with MAGEE1 (By similarity).		A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Silent	SNP	ENST00000399113.3	37	c.339C>T	CCDS59311.1																																																																																				0.473	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		13	95	0	0	0	0.520397	0	13	95					T	32374191	C	T	32374191	2	4	314	1	0	0	0	0	0	0	0	1	4788	564	20	2		2	DTNA	18	32374191	Silent	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08		32374191	45703057	23	6659											
CDS2	8760	broad.mit.edu	37	chr20	5169753	5169753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccagattcacagcatcgCtctctccacctttgcctcgc	5	18	2	1			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr20:5169753C>T	ENST00000460006.1	+	11	1329	c.1022C>T	c.(1021-1023)gCt>gTt	p.A341V	CDS2_ENST00000379062.4_Missense_Mutation_p.A221V|CDS2_ENST00000535100.1_Missense_Mutation_p.A111V|CDS2_ENST00000379070.3_3'UTR	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	341					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	phosphatidate cytidylyltransferase activity (GO:0004605)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						CACAGCATCGCTCTCTCCACC	0.458																																						ENST00000460006.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						c.(1021-1023)gCt>gTt		CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2							180	166	171					20																	5169753		2203	4300	6503	SO:0001583	missense	8760				phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity	g.chr20:5169753C>T	AF069532	CCDS13088.1	20p13	2006-03-28			ENSG00000101290	ENSG00000101290	2.7.7.41		1801	protein-coding gene	gene with protein product		603549				9806839, 9889000	Standard	NM_003818		Approved		uc002wls.3	O95674	OTTHUMG00000031801	ENST00000460006.1:c.1022C>T	20.37:g.5169753C>T	ENSP00000419879:p.Ala341Val					CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000535100.1_Missense_Mutation_p.A111V|CDS2_ENST00000379062.4_Missense_Mutation_p.A221V	p.A341V	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN			11	1329	+			341					B2RDC6|D3DW04|Q5TDY2|Q5TDY3|Q5TDY4|Q5TDY5|Q9BYK5|Q9NTT2	Missense_Mutation	SNP	ENST00000460006.1	37	c.1022C>T	CCDS13088.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.613688	0.28712	.	.	ENSG00000101290	ENST00000460006;ENST00000379062;ENST00000535100	T;T;T	0.40476	1.03;1.03;1.03	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.29491	0.0735	N	0.17838	0.53	0.80722	D	1	B;B;B	0.23128	0.002;0.038;0.08	B;B;B	0.28305	0.004;0.024;0.088	T	0.09465	-1.0673	10	0.02654	T	1	-1.4197	18.5497	0.91058	0.0:1.0:0.0:0.0	.	111;221;341	F6VWC5;E7EQ83;O95674	.;.;CDS2_HUMAN	V	341;221;111	ENSP00000419879:A341V;ENSP00000368352:A221V;ENSP00000440555:A111V	ENSP00000368352:A221V	A	+	2	0	CDS2	5117753	1.000000	0.71417	0.996000	0.52242	0.974000	0.67602	6.024000	0.70857	2.802000	0.96397	0.542000	0.68232	GCT		0.458	CDS2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077858.2			46	75	0	0	0	0.870114	0	46	75					T	5169753	C	T	5169753	3	4	314	1	0	0	0	0	1	0	0	0	3178	797	28	2	1064	2	CDS2	20	5169753	Missense_Mutation	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08		5169753	57855767	24	6660											
DSCAM	1826	broad.mit.edu	37	chr21	41648055	41648055	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtacatggacttgctgacGtctgcgcccacatcgttgct	11	12	1	1	rs372175757		TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr21:41648055G>A	ENST00000400454.1	-	11	2802	c.2325C>T	c.(2323-2325)gaC>gaT	p.D775D		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	775	Ig-like C2-type 8.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ACTTGCTGACGTCTGCGCCCA	0.468																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(2323-2325)gaC>gaT		Down syndrome cell adhesion molecule		G		0,4152		0,0,2076	95	101	99		2325	4.7	1.0	21		99	1,8507		0,1,4253	no	coding-synonymous	DSCAM	NM_001389.3		0,1,6329	AA,AG,GG		0.0118,0.0,0.0079		775/2013	41648055	1,12659	2076	4254	6330	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41648055G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.2325C>T	21.37:g.41648055G>A							p.D775D	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			11	2802	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	775			Ig-like C2-type 8.		O60468	Silent	SNP	ENST00000400454.1	37	c.2325C>T	CCDS42929.1																																																																																				0.468	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		5	92	0	0	0	0.217242	0	5	92					A	41648055	G	A	41648055	2	1	314	1	0	0	0	0	0	0	0	1	4768	1136	40	1		1	DSCAM	21	41648055	Silent	SNP	G	TCGA-EM-A3AL-01A-11D-A202-08		41648055	6481840	25	6661											
CSF2RB	1439	broad.mit.edu	37	chr22	37325500	37325500	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgaccaggaccacttcctgCtgacctggagtgtggccctt	11	15	0	1			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr22:37325500C>A	ENST00000403662.3	+	5	670	c.448C>A	c.(448-450)Ctg>Atg	p.L150M	CSF2RB_ENST00000262825.5_Missense_Mutation_p.L150M|CSF2RB_ENST00000406230.1_Missense_Mutation_p.L150M|CSF2RB_ENST00000536485.1_Missense_Mutation_p.L91M			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	150	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CCACTTCCTGCTGACCTGGAG	0.627																																						ENST00000262825.5																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42						c.(448-450)Ctg>Atg		colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						98	97	98					22																	37325500		2203	4300	6503	SO:0001583	missense	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37325500C>A	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"CD molecules", "Fibronectin type III domain containing"	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.448C>A	22.37:g.37325500C>A	ENSP00000384053:p.Leu150Met					CSF2RB_ENST00000403662.3_Missense_Mutation_p.L150M|CSF2RB_ENST00000536485.1_Missense_Mutation_p.L91M|CSF2RB_ENST00000406230.1_Missense_Mutation_p.L150M	p.L150M	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN			5	665	+			150			Fibronectin type-III 1.		Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	c.448C>A	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529916	0.64860	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000421539;ENST00000536485	T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07	5.22	5.22	0.72569	Fibronectin, type III (3);Immunoglobulin-like fold (1);	.	.	.	.	D	0.86973	0.6062	M	0.81802	2.56	0.44619	D	0.99759	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.981	D	0.87914	0.2699	9	0.87932	D	0	-7.6773	10.2304	0.43252	0.0:0.9087:0.0:0.0913	.	150;150	P32927-2;P32927	.;IL3RB_HUMAN	M	150;150;150;150;70;91	ENSP00000384053:L150M;ENSP00000262825:L150M;ENSP00000385271:L150M;ENSP00000393585:L70M;ENSP00000440003:L91M	ENSP00000262825:L150M	L	+	1	2	CSF2RB	35655446	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	2.775000	0.47702	2.578000	0.87016	0.655000	0.94253	CTG		0.627	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		4	169	1	0	0.150653	0.150653	0.154157	4	169					A	37325500	C	A	37325500	3	1	314	1	0	0	0	0	1	0	0	0	3935	796	28	4	462	4	CSF2RB	22	37325500	Missense_Mutation	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08		37325500	13979066	26	6662											
CSF2RA	1438	broad.mit.edu	37	chrX	1407736	1407736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctgggcgaggggtccgaCggccccccgtgacgtccagt	15	15	0	1			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chrX:1407736C>T	ENST00000381524.3	+	6	614	c.428C>T	c.(427-429)aCg>aTg	p.T143M	CSF2RA_ENST00000381500.1_Missense_Mutation_p.T143M|CSF2RA_ENST00000381529.3_Missense_Mutation_p.T143M|BX649553.3_ENST00000581137.1_RNA|CSF2RA_ENST00000417535.2_Missense_Mutation_p.T143M|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000432318.2_Missense_Mutation_p.T143M|CSF2RA_ENST00000361536.3_Missense_Mutation_p.T143M|CSF2RA_ENST00000381509.3_Missense_Mutation_p.T143M|CSF2RA_ENST00000355805.2_Missense_Mutation_p.T143M|CSF2RA_ENST00000501036.2_Missense_Mutation_p.T10M|CSF2RA_ENST00000355432.3_Missense_Mutation_p.T143M			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	143					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AGGGGTCCGACGGCCCCCCGT	0.473													c|||	3	0.000599042	8e-04	0	5008	,	,		15400	0		0.001	False		,,,				2504	0.001				Esophageal Squamous(131;723 1707 25334 40494 41806)	ENST00000381524.3																			0				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45						c.(427-429)aCg>aTg		colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)	C	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	117	128	124		428,428,428,29,428,428,428,428,428	1.7	0.0	X		124	2,8590		0,2,4294	no	missense,missense,missense,missense,missense,missense,missense,missense,missense	CSF2RA	NM_001161529.1,NM_001161530.1,NM_001161531.1,NM_001161532.1,NM_006140.4,NM_172245.2,NM_172246.2,NM_172247.2,NM_172249.2	81,81,81,81,81,81,81,81,81	0,2,6497	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	143/401,143/435,143/411,10/268,143/401,143/401,143/378,143/334,143/234	1407736	2,12996	2203	4296	6499	SO:0001583	missense	0					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1407736C>T	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"CD molecules", "Pseudoautosomal regions / PAR1"	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.428C>T	X.37:g.1407736C>T	ENSP00000370935:p.Thr143Met					CSF2RA_ENST00000361536.3_Missense_Mutation_p.T143M|CSF2RA_ENST00000432318.2_Missense_Mutation_p.T143M|CSF2RA_ENST00000381500.1_Missense_Mutation_p.T143M|CSF2RA_ENST00000417535.2_Missense_Mutation_p.T143M|CSF2RA_ENST00000381509.3_Missense_Mutation_p.T143M|CSF2RA_ENST00000355805.2_Missense_Mutation_p.T143M|CSF2RA_ENST00000381529.3_Missense_Mutation_p.T143M|CSF2RA_ENST00000355432.3_Missense_Mutation_p.T143M|CSF2RA_ENST00000501036.2_Missense_Mutation_p.T10M	p.T143M			P15509	CSF2R_HUMAN			6	614	+		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)	143					A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	c.428C>T	CCDS35191.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	.	12.38	1.919535	0.33908	0.0	2.33E-4	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000381507;ENST00000501036;ENST00000381524;ENST00000412290;ENST00000419094;ENST00000381509;ENST00000355805;ENST00000355432;ENST00000417535;ENST00000381500	T;T;T;D;T;T;T;T;T;T;T;T	0.94931	0.51;0.51;0.51;-3.56;0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51	1.74	1.74	0.24563	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Short hematopoietin receptor, family 2, conserved site (1);Immunoglobulin-like fold (1);	1.230320	0.06540	U	0.742960	D	0.95421	0.8513	.	.	.	0.09310	N	1	D;D;P;D;D;D	0.76494	0.999;0.999;0.927;0.987;0.998;0.999	P;P;B;P;P;P	0.60012	0.854;0.867;0.328;0.554;0.731;0.761	D	0.86157	0.1591	9	0.48119	T	0.1	.	6.6818	0.23125	0.0:1.0:0.0:0.0	.	143;143;143;143;143;143	P15509-2;A7J003;P15509-3;P15509-6;P15509-5;P15509	.;.;.;.;.;CSF2R_HUMAN	M	143;143;143;143;10;143;143;143;143;143;143;143;143	ENSP00000370940:T143M;ENSP00000416437:T143M;ENSP00000354836:T143M;ENSP00000440491:T10M;ENSP00000370935:T143M;ENSP00000410667:T143M;ENSP00000397452:T143M;ENSP00000370920:T143M;ENSP00000348058:T143M;ENSP00000347606:T143M;ENSP00000394227:T143M;ENSP00000370911:T143M	ENSP00000347606:T143M	T	+	2	0	CSF2RA	1367736	0.001000	0.12720	0.001000	0.08648	0.032000	0.12392	0.417000	0.21214	0.918000	0.36919	0.280000	0.19369	ACG		0.473	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			11	142	0	0	0	0.38729	0	11	142					T	1407736	C	T	1407736	3	4	314	1	0	0	0	0	1	0	0	0	3934	536	19	1	442	1	CSF2RA	23	1407736	Missense_Mutation	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08		1407736	153862824	27	6663											
PRPS2	5634	broad.mit.edu	37	chrX	12837725	12837725	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggatggtcctggtgggcgaCgtgaaggaccgtgtggccat	18	9	0	1			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chrX:12837725C>T	ENST00000380668.5	+	5	758	c.630C>T	c.(628-630)gaC>gaT	p.D210D	PRPS2_ENST00000398491.2_Silent_p.D213D	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	210					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|AMP biosynthetic process (GO:0006167)|nucleobase-containing compound metabolic process (GO:0006139)|organ regeneration (GO:0031100)	extracellular vesicular exosome (GO:0070062)|ribose phosphate diphosphokinase complex (GO:0002189)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|carbohydrate binding (GO:0030246)|GDP binding (GO:0019003)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						TGGTGGGCGACGTGAAGGACC	0.552																																						ENST00000380668.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						c.(628-630)gaC>gaT		phosphoribosyl pyrophosphate synthetase 2							253	219	230					X																	12837725		2203	4300	6503	SO:0001819	synonymous_variant	5634				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chrX:12837725C>T	Y00971	CCDS14150.1, CCDS43918.1	Xp22.2	2012-10-02			ENSG00000101911	ENSG00000101911	2.7.6.1		9465	protein-coding gene	gene with protein product	"PRS II", "ribose-phosphate diphosphokinase 2"	311860				1962753	Standard	NM_002765		Approved		uc004cva.3	P11908	OTTHUMG00000021139	ENST00000380668.5:c.630C>T	X.37:g.12837725C>T						PRPS2_ENST00000398491.2_Silent_p.D213D	p.D210D	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN			5	758	+			210					Q0VDH9|Q0VDI0|Q15245|Q2TAK7	Silent	SNP	ENST00000380668.5	37	c.630C>T	CCDS14150.1																																																																																				0.552	PRPS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055772.2	NM_002765		97	230	0	0	0	0.870114	0	97	230					T	12837725	C	T	12837725	2	4	314	1	0	0	0	0	0	0	0	1	12580	535	19	1		1	PRPS2	23	12837725	Silent	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08	11429989	12837725	142432835	28	6664											
CNGA2	1260	broad.mit.edu	37	chrX	150911807	150911807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatcttccgcatcagcaacCttgtcctctacatcttggtc	5	15	4	0			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chrX:150911807C>T	ENST00000329903.4	+	6	865	c.832C>T	c.(832-834)Ctt>Ttt	p.L278F		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	278					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CATCAGCAACCTTGTCCTCTA	0.512																																						ENST00000329903.4																			0				breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49						c.(832-834)Ctt>Ttt		cyclic nucleotide gated channel alpha 2							193	154	167					X																	150911807		2203	4300	6503	SO:0001583	missense	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150911807C>T	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.832C>T	X.37:g.150911807C>T	ENSP00000328478:p.Leu278Phe						p.L278F	NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN			6	865	+	Acute lymphoblastic leukemia(192;6.56e-05)		278					A0AVD0	Missense_Mutation	SNP	ENST00000329903.4	37	c.832C>T	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.678142	0.47886	.	.	ENSG00000183862	ENST00000329903	D	0.99462	-5.94	5.09	5.09	0.68999	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.99591	0.9852	M	0.91768	3.24	0.45704	D	0.998613	D	0.89917	1.0	D	0.91635	0.999	D	0.97907	1.0306	10	0.87932	D	0	.	15.0761	0.72077	0.0:1.0:0.0:0.0	.	278	Q16280	CNGA2_HUMAN	F	278	ENSP00000328478:L278F	ENSP00000328478:L278F	L	+	1	0	CNGA2	150662463	1.000000	0.71417	0.986000	0.45419	0.854000	0.48673	0.741000	0.26202	2.236000	0.73375	0.600000	0.82982	CTT		0.512	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		4	222	0	0	0	0.150653	0	4	222					T	150911807	C	T	150911807	3	4	314	1	0	0	0	0	1	0	0	0	3597	681	24	2	854	2	CNGA2	23	150911807	Missense_Mutation	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08	138074082	150911807	4358753	29	6665											
PRDM2	7799	broad.mit.edu	37	chr1	14059320	14059320	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaggcaaaaaatttgggccAtttgttggtgataagaaaaa	10	3	0	2			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr1:14059320A>G	ENST00000235372.7	+	4	1030	c.174A>G	c.(172-174)ccA>ccG	p.P58P	PRDM2_ENST00000311066.5_Silent_p.P58P|PRDM2_ENST00000376048.5_Silent_p.P58P	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	58	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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)		AATTTGGGCCATTTGTTGGTG	0.289																																						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.(172-174)ccA>ccG		PR domain containing 2, with ZNF domain							57	61	60					1																	14059320		2203	4295	6498	SO:0001819	synonymous_variant	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14059320A>G	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.174A>G	1.37:g.14059320A>G						PRDM2_ENST00000376048.5_Silent_p.P58P|PRDM2_ENST00000311066.5_Silent_p.P58P	p.P58P	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)	4	1030	+	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)	58			SET.		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent	SNP	ENST00000235372.7	37	c.174A>G	CCDS150.1																																																																																				0.289	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		3	59	0	0	0	0.014758	0	3	59					G	14059320	A	G	14059320	2	3	315	1	0	0	0	0	0	0	0	1	12458	204	8	3		3	PRDM2	1	14059320	Silent	SNP	A	TCGA-EM-A3AN-01A-11D-A202-08		14059320	235191301	1	6666											
ALMS1	7840	broad.mit.edu	37	chr2	73828375	73828375	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtctagatcaaagaaggaaAacgtgcctaacacttgtggc	10	8	2	2			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr2:73828375A>T	ENST00000264448.6	+	19	12034	c.11923A>T	c.(11923-11925)Aac>Tac	p.N3975Y	ALMS1_ENST00000409009.1_Missense_Mutation_p.N3933Y|ALMS1_ENST00000464408.2_3'UTR	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3975					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AAAGAAGGAAAACGTGCCTAA	0.468																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(11923-11925)Aac>Tac		Alstrom syndrome 1							112	123	119					2																	73828375		2188	4296	6484	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73828375A>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.11923A>T	2.37:g.73828375A>T	ENSP00000264448:p.Asn3975Tyr					ALMS1_ENST00000409009.1_Missense_Mutation_p.N3933Y|ALMS1_ENST00000464408.2_3'UTR	p.N3975Y	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			19	12034	+			3975					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.11923A>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.021739	0.54576	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.08546	3.08;3.08	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000005	T	0.22044	0.0531	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.992;0.999	T	0.00318	-1.1821	10	0.87932	D	0	.	13.0184	0.58771	1.0:0.0:0.0:0.0	.	3933;3975	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	Y	3933;3975	ENSP00000386627:N3933Y;ENSP00000264448:N3975Y	ENSP00000264448:N3975Y	N	+	1	0	ALMS1	73681883	1.000000	0.71417	0.993000	0.49108	0.309000	0.27889	4.763000	0.62257	2.182000	0.69389	0.459000	0.35465	AAC		0.468	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		6	203	0	0	0	0.021553	0	6	203					T	73828375	A	T	73828375	3	4	315	1	0	0	0	0	1	0	0	0	535	14	1	5	11997	5	ALMS1	2	73828375	Missense_Mutation	SNP	A	TCGA-EM-A3AN-01A-11D-A202-08		73828375	169370998	2	6667											
ALS2CR12	130540	broad.mit.edu	37	chr2	202216069	202216069	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggggtcttgattagcttcCgtggtcccaagttccagggg	15	9	1	1	rs142397497		TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr2:202216069C>T	ENST00000286190.5	-	1	105	c.59G>A	c.(58-60)cGg>cAg	p.R20Q	ALS2CR12_ENST00000439709.1_Missense_Mutation_p.R20Q|ALS2CR12_ENST00000405148.2_Missense_Mutation_p.R20Q|ALS2CR12_ENST00000448967.1_5'UTR|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.R20Q			Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	20					regulation of GTPase activity (GO:0043087)	outer dense fiber (GO:0001520)|sperm fibrous sheath (GO:0035686)|sperm flagellum (GO:0036126)		p.R20Q(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						GATTAGCTTCCGTGGTCCCAA	0.557													C|||	1	0.000199681	0	0	5008	,	,		17196	0		0	False		,,,				2504	0.001					ENST00000405148.2																			1	Substitution - Missense(1)	p.R20Q(1)	endometrium(1)	NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						c.(58-60)cGg>cAg		amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	104	97	100		59,59	2.3	0.9	2	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ALS2CR12	NM_001127391.1,NM_139163.2	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	20/423,20/446	202216069	1,13005	2203	4300	6503	SO:0001583	missense	130540				regulation of GTPase activity		protein binding	g.chr2:202216069C>T	AB053314	CCDS2346.1, CCDS46488.1	2q33.1	2009-10-06			ENSG00000155749	ENSG00000155749			14439	protein-coding gene	gene with protein product							Standard	XM_006712272		Approved		uc002uya.4	Q96Q35	OTTHUMG00000132824	ENST00000286190.5:c.59G>A	2.37:g.202216069C>T	ENSP00000286190:p.Arg20Gln					ALS2CR12_ENST00000286190.5_Missense_Mutation_p.R20Q|ALS2CR12_ENST00000448967.1_5'UTR|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.R20Q|ALS2CR12_ENST00000439709.1_Missense_Mutation_p.R20Q	p.R20Q	NM_139163.2	NP_631902.2	Q96Q35	AL2SB_HUMAN			2	502	-			20					G5E9S3|Q53TT6|Q8N1B6	Missense_Mutation	SNP	ENST00000286190.5	37	c.59G>A	CCDS2346.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597707	0.46318	0.0	1.16E-4	ENSG00000155749	ENST00000286190;ENST00000405148;ENST00000392257;ENST00000439709;ENST00000418364	T;T;T;T;T	0.58210	0.91;0.91;0.91;0.91;0.35	5.06	2.28	0.28536	.	0.317119	0.23103	N	0.051893	T	0.33818	0.0876	L	0.33485	1.01	0.21020	N	0.999809	B;B	0.30033	0.266;0.266	B;B	0.22386	0.039;0.039	T	0.17379	-1.0371	10	0.46703	T	0.11	-5.5698	5.0633	0.14568	0.0:0.6437:0.1719:0.1844	.	20;20	Q96Q35;G5E9S3	AL2SB_HUMAN;.	Q	20	ENSP00000286190:R20Q;ENSP00000385098:R20Q;ENSP00000376086:R20Q;ENSP00000412073:R20Q;ENSP00000407585:R20Q	ENSP00000286190:R20Q	R	-	2	0	ALS2CR12	201924314	0.021000	0.18746	0.897000	0.35233	0.905000	0.53344	0.413000	0.21148	0.808000	0.34231	-0.137000	0.14449	CGG		0.557	ALS2CR12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256286.1	NM_139163		25	49	0	0	0	0.134883	0	25	49					T	202216069	C	T	202216069	3	4	315	1	0	0	0	0	1	0	0	0	553	652	23	1	1334	1	ALS2CR12	2	202216069	Missense_Mutation	SNP	C	TCGA-EM-A3AN-01A-11D-A202-08	128387694	202216069	40983304	3	6668											
IP6K2	51447	broad.mit.edu	37	chr3	48732456	48732456	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagggatggctgccagggcCttccatggccacgatctctc	12	15	1	0			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr3:48732456C>A	ENST00000328631.5	-	2	426				IP6K2_ENST00000417896.1_Missense_Mutation_p.R90M|IP6K2_ENST00000436134.1_Intron|IP6K2_ENST00000340879.4_Intron|IP6K2_ENST00000413298.1_Intron|IP6K2_ENST00000432678.2_Intron|IP6K2_ENST00000449610.1_Missense_Mutation_p.R90M|IP6K2_ENST00000446860.1_Missense_Mutation_p.R148M|IP6K2_ENST00000443964.1_Missense_Mutation_p.R149M|IP6K2_ENST00000453202.1_Missense_Mutation_p.R90M|IP6K2_ENST00000450045.1_Intron|IP6K2_ENST00000431721.2_Missense_Mutation_p.R145M	NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2						cytokine-mediated signaling pathway (GO:0019221)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell growth (GO:0030308)|phosphate ion transport (GO:0006817)|phosphatidylinositol phosphorylation (GO:0046854)|positive regulation of apoptotic process (GO:0043065)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						CTGCCAGGGCCTTCCATGGCC	0.607																																						ENST00000431721.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						c.(433-435)aGg>aTg		inositol hexakisphosphate kinase 2																																				SO:0001627	intron_variant	51447				negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity	g.chr3:48732456C>A	AF177145	CCDS2777.1, CCDS33752.1, CCDS54579.1, CCDS54580.1, CCDS54581.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000068745	ENSG00000068745			17313	protein-coding gene	gene with protein product		606992	"inositol hexaphosphate kinase 2"	IHPK2		10574768	Standard	NM_016291		Approved		uc003cup.3	Q9UHH9	OTTHUMG00000133543	ENST00000328631.5:c.202+66G>T	3.37:g.48732456C>A						IP6K2_ENST00000340879.4_Intron|IP6K2_ENST00000432678.2_Intron|IP6K2_ENST00000446860.1_Missense_Mutation_p.R148M|IP6K2_ENST00000436134.1_Intron|IP6K2_ENST00000413298.1_Intron|IP6K2_ENST00000450045.1_Intron|IP6K2_ENST00000449610.1_Missense_Mutation_p.R90M|IP6K2_ENST00000453202.1_Missense_Mutation_p.R90M|IP6K2_ENST00000328631.5_Intron|IP6K2_ENST00000417896.1_Missense_Mutation_p.R90M|IP6K2_ENST00000443964.1_Missense_Mutation_p.R149M	p.R145M	NM_001190316.1	NP_001177245.1	Q9UHH9	IP6K2_HUMAN			3	671	-			177					A8K3B1|B4E3G6|G8JLL6|Q6P0N8|Q9BSZ6|Q9BUW3|Q9H4P7|Q9NT63|Q9UFU6	Missense_Mutation	SNP	ENST00000328631.5	37	c.434G>T	CCDS2777.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.704800	0.48412	.	.	ENSG00000068745	ENST00000431721;ENST00000449610;ENST00000446860;ENST00000417896;ENST00000443964;ENST00000453202	T;T;T;T;T;T	0.51325	0.71;0.77;0.71;0.77;0.71;0.77	4.2	0.154	0.14901	.	.	.	.	.	T	0.22166	0.0534	N	0.08118	0	0.09310	N	0.999999	P;P;P	0.39157	0.662;0.662;0.662	B;B;B	0.37304	0.246;0.246;0.181	T	0.09818	-1.0657	9	0.35671	T	0.21	.	3.2375	0.06770	0.1645:0.4193:0.3203:0.0959	.	148;144;145	B4E3G6;A8K636;A8K3B1	.;.;.	M	145;90;148;90;149;90	ENSP00000414139:R145M;ENSP00000393077:R90M;ENSP00000399052:R148M;ENSP00000388116:R90M;ENSP00000410950:R149M;ENSP00000387394:R90M	ENSP00000388116:R90M	R	-	2	0	IP6K2	48707460	0.077000	0.21312	0.000000	0.03702	0.696000	0.40369	0.161000	0.16481	-0.085000	0.12573	0.195000	0.17529	AGG		0.607	IP6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257521.2	NM_016291		13	24	1	0	5.50884e-06	0.09319	1.1362e-05	13	24					A	48732456	C	A	48732456	1	1	315	0	1	0	0	0	0	0	0	0	7789	681	24	4		4	IP6K2	3	48732456	Intron	SNP	C	TCGA-EM-A3AN-01A-11D-A202-08		48732456	149289974	4	6669											
INTU	27152	broad.mit.edu	37	chr4	128627849	128627850	+	Frame_Shift_Ins	INS	-	-	A													gttccttactggatcacgtgINSaaaaaacagatagcttgacc							TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr4:128627849_128627850insA	ENST00000335251.6	+	12	2099_2100	c.1996_1997insA	c.(1996-1998)gaafs	p.E666fs		NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	666					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TGGATCACGTGAAAAAACAGAT	0.465																																						ENST00000335251.5																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						c.(1996-1998)aaafs		inturned planar cell polarity protein																																				SO:0001589	frameshift_variant	27152							g.chr4:128627849_128627850insA	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"PDZ domain containing 6", "inturned planar cell polarity effector homolog (Drosophila)"	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.2002dupA	4.37:g.128627855_128627855dupA	ENSP00000334003:p.Glu666fs						p.K666fs	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN			12	2099_2100	+			666					A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Frame_Shift_Ins	INS	ENST00000335251.6	37	c.1996_1997insA	CCDS34061.1																																																																																				0.465	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		40	87						40	87	---	---	---	---	A	128627850	-	A	128627849	7	5	315	1	0	1	1	0	0	0	0	0	7786	1291	45	0	2042	0	INTU	4	128627849	Frame_Shift_Ins	INS	-	TCGA-EM-A3AN-01A-11D-A202-08		128627849	62526427	5	6670											
NR3C2	4306	broad.mit.edu	37	chr4	149075797	149075797	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tttcggctgtatctggttttGagctgtcatagcctgcatat	10	8	2	1			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr4:149075797G>C	ENST00000358102.3	-	5	2632	c.2270C>G	c.(2269-2271)tCa>tGa	p.S757*	NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000355292.3_Nonsense_Mutation_p.S761*|NR3C2_ENST00000511528.1_Nonsense_Mutation_p.S761*|NR3C2_ENST00000503313.1_5'UTR|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000344721.4_Nonsense_Mutation_p.S757*	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	757	Steroid-binding.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	ATCTGGTTTTGAGCTGTCATA	0.493																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(2281-2283)tCa>tGa		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						208	204	205					4																	149075797		2203	4300	6503	SO:0001587	stop_gained	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149075797G>C	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"Nuclear hormone receptors"	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2270C>G	4.37:g.149075797G>C	ENSP00000350815:p.Ser757*					NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000344721.4_Nonsense_Mutation_p.S757*|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000358102.3_Nonsense_Mutation_p.S757*|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000511528.1_Nonsense_Mutation_p.S761*	p.S761*			P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	5	2644	-	all_hematologic(180;0.151)		757			Steroid-binding.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Nonsense_Mutation	SNP	ENST00000358102.3	37	c.2282C>G	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	G	44	11.115931	0.99518	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000511528	.	.	.	5.91	5.91	0.95273	.	0.190944	0.46758	D	0.000262	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	.	.	.	X	757;761;757;761	.	.	S	-	2	0	NR3C2	149295247	1.000000	0.71417	0.538000	0.28064	0.752000	0.42762	7.912000	0.87465	2.793000	0.96121	0.655000	0.94253	TCA		0.493	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			4	215	0	0	0	0.009096	0	4	215					C	149075797	G	C	149075797	4	2	315	1	0	0	0	0	0	1	0	0	10631	1294	45	4	704	4	NR3C2	4	149075797	Nonsense_Mutation	SNP	G	TCGA-EM-A3AN-01A-11D-A202-08	20447948	149075797	42078479	6	6671											
HACE1	57531	broad.mit.edu	37	chr6	105198273	105198273	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaatgaacatatgaaagccCtgtaaaaaagcattgatctg	9	6	1	3			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr6:105198273C>A	ENST00000262903.4	-	20	2562	c.2286G>T	c.(2284-2286)caG>caT	p.Q762H	HACE1_ENST00000517995.1_5'UTR|HACE1_ENST00000369125.2_Missense_Mutation_p.Q547H	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	762	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TATGAAAGCCCTGTAAAAAAG	0.383																																						ENST00000262903.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44						c.(2284-2286)caG>caT		HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1							111	105	107					6																	105198273		2203	4300	6503	SO:0001583	missense	57531				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity	g.chr6:105198273C>A	BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"Ankyrin repeat domain containing"	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.2286G>T	6.37:g.105198273C>A	ENSP00000262903:p.Gln762His					HACE1_ENST00000369125.2_Missense_Mutation_p.Q547H|HACE1_ENST00000517995.1_5'UTR	p.Q762H	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)	20	2562	-		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)	762			HECT.		A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	ENST00000262903.4	37	c.2286G>T	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966103	0.53507	.	.	ENSG00000085382	ENST00000262903;ENST00000369125	T;T	0.58210	0.35;0.35	5.3	1.5	0.22942	HECT (4);	0.054165	0.85682	D	0.000000	T	0.42787	0.1218	L	0.35593	1.075	0.24617	N	0.993692	D;D;P;P	0.61697	0.99;0.962;0.728;0.799	D;P;P;B	0.74674	0.984;0.52;0.505;0.371	T	0.36601	-0.9741	10	0.66056	D	0.02	.	9.5813	0.39490	0.0:0.5734:0.0:0.4266	.	547;251;762;415	E9PGP0;B4DFM6;Q8IYU2;Q8IYU2-3	.;.;HACE1_HUMAN;.	H	762;547	ENSP00000262903:Q762H;ENSP00000358121:Q547H	ENSP00000262903:Q762H	Q	-	3	2	HACE1	105304966	0.988000	0.35896	1.000000	0.80357	0.861000	0.49209	0.258000	0.18387	0.245000	0.21373	-0.253000	0.11424	CAG		0.383	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095		3	43	1	0	0.115264	0.115264	0.190186	3	43					A	105198273	C	A	105198273	3	1	315	1	0	0	0	0	1	0	0	0	6940	680	24	4	463	4	HACE1	6	105198273	Missense_Mutation	SNP	C	TCGA-EM-A3AN-01A-11D-A202-08		105198273	65916794	7	6672											
TSPAN33	340348	broad.mit.edu	37	chr7	128801563	128801563	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggtgtctacgctcggcTaatgaagcatgcaggtgagc	15	8	1	2			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr7:128801563T>C	ENST00000289407.4	+	2	255	c.146T>C	c.(145-147)cTa>cCa	p.L49P		NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	49					establishment of protein localization to plasma membrane (GO:0090002)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						TACGCTCGGCTAATGAAGCAT	0.572																																						ENST00000289407.4																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						c.(145-147)cTa>cCa		tetraspanin 33							242	185	205					7																	128801563		2203	4300	6503	SO:0001583	missense	340348					integral to membrane		g.chr7:128801563T>C		CCDS5810.1	7q32.3	2013-02-14			ENSG00000158457	ENSG00000158457		"Tetraspanins"	28743	protein-coding gene	gene with protein product		610120				16213355, 16242907	Standard	XM_006715960		Approved	MGC50844, Penumbra	uc003vop.2	Q86UF1	OTTHUMG00000158420	ENST00000289407.4:c.146T>C	7.37:g.128801563T>C	ENSP00000289407:p.Leu49Pro						p.L49P	NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN			2	255	+			49						Missense_Mutation	SNP	ENST00000289407.4	37	c.146T>C	CCDS5810.1	.	.	.	.	.	.	.	.	.	.	T	12.04	1.819325	0.32145	.	.	ENSG00000158457	ENST00000289407	T	0.79454	-1.27	4.95	4.95	0.65309	.	0.165334	0.43260	D	0.000587	D	0.84079	0.5393	M	0.74467	2.265	0.80722	D	1	P	0.51537	0.946	P	0.56163	0.793	D	0.85706	0.1316	10	0.59425	D	0.04	-25.3258	12.5972	0.56476	0.0:0.0:0.0:1.0	.	49	Q86UF1	TSN33_HUMAN	P	49	ENSP00000289407:L49P	ENSP00000289407:L49P	L	+	2	0	TSPAN33	128588799	1.000000	0.71417	0.996000	0.52242	0.027000	0.11550	6.282000	0.72639	1.868000	0.54150	0.533000	0.62120	CTA		0.572	TSPAN33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350983.1	NM_178562		3	175	0	0	0	0.115264	0	3	175					C	128801563	T	C	128801563	3	2	315	1	0	0	0	0	1	0	0	0	16645	1522	53	3	152	3	TSPAN33	7	128801563	Missense_Mutation	SNP	T	TCGA-EM-A3AN-01A-11D-A202-08		128801563	30337100	8	6673											
CSMD1	64478	broad.mit.edu	37	chr8	3008978	3008978	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agttgttggggtaagaacctGggaagccggggctcaggatc	17	7	1	1			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr8:3008978G>T	ENST00000520002.1	-	41	6530	c.5975C>A	c.(5974-5976)cCa>cAa	p.P1992Q	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Missense_Mutation_p.P1991Q|CSMD1_ENST00000602723.1_Missense_Mutation_p.P1992Q|CSMD1_ENST00000400186.3_Missense_Mutation_p.P1992Q|CSMD1_ENST00000542608.1_Missense_Mutation_p.P1991Q|CSMD1_ENST00000539096.1_Missense_Mutation_p.P1991Q|CSMD1_ENST00000602557.1_Missense_Mutation_p.P1992Q			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1992	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTAAGAACCTGGGAAGCCGGG	0.488																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(5974-5976)cCa>cAa		CUB and Sushi multiple domains 1							85	92	90					8																	3008978		2077	4238	6315	SO:0001583	missense	64478					integral to membrane		g.chr8:3008978G>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.5975C>A	8.37:g.3008978G>T	ENSP00000430733:p.Pro1992Gln					CSMD1_ENST00000400186.3_Missense_Mutation_p.P1992Q|CSMD1_ENST00000539096.1_Missense_Mutation_p.P1991Q|CSMD1_ENST00000602723.1_Missense_Mutation_p.P1992Q|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000542608.1_Missense_Mutation_p.P1991Q|CSMD1_ENST00000537824.1_Missense_Mutation_p.P1991Q|CSMD1_ENST00000520002.1_Missense_Mutation_p.P1992Q	p.P1992Q			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	41	6530	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1992			CUB 12.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.5975C>A		.	.	.	.	.	.	.	.	.	.	G	17.87	3.494150	0.64186	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.54071	1.4;1.4;1.4;1.4;0.59	4.79	4.79	0.61399	CUB (5);	0.000000	0.64402	D	0.000001	D	0.84211	0.5422	H	0.98818	4.34	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;0.999;1.0;0.994	D	0.91449	0.5180	10	0.87932	D	0	.	17.8564	0.88765	0.0:0.0:1.0:0.0	.	1992;1992;1991;1992	E5RIG2;Q96PZ7;F5H2I8;Q96PZ7-4	.;CSMD1_HUMAN;.;.	Q	1992;1992;1853;1991;1991;1991	ENSP00000383047:P1992Q;ENSP00000430733:P1992Q;ENSP00000441462:P1991Q;ENSP00000446243:P1991Q;ENSP00000441675:P1991Q	ENSP00000320445:P1853Q	P	-	2	0	CSMD1	2996385	1.000000	0.71417	0.087000	0.20705	0.167000	0.22549	9.527000	0.98044	2.186000	0.69663	0.650000	0.86243	CCA		0.488	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		10	28	1	0	6.40141e-05	0.080935	0.000124263	10	28					T	3008978	G	T	3008978	3	4	315	1	0	0	0	0	1	0	0	0	3944	1348	47	4	4846	4	CSMD1	8	3008978	Missense_Mutation	SNP	G	TCGA-EM-A3AN-01A-11D-A202-08		3008978	143355044	9	6674											
OR4C6	219432	broad.mit.edu	37	chr11	55432991	55432991	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcatcctcctcactgtgatgGcctatgaccgctacgtggcc	9	15	2	2			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr11:55432991G>C	ENST00000314259.3	+	1	378	c.349G>C	c.(349-351)Gcc>Ccc	p.A117P		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CACTGTGATGGCCTATGACCG	0.567																																						ENST00000314259.3																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(349-351)Gcc>Ccc		olfactory receptor, family 4, subfamily C, member 6							112	102	106					11																	55432991		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55432991G>C	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"GPCR / Class A : Olfactory receptors"	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.349G>C	11.37:g.55432991G>C	ENSP00000324769:p.Ala117Pro						p.A117P	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	378	+			117					B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.349G>C	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027740	0.54790	.	.	ENSG00000181903	ENST00000314259	T	0.56103	0.48	3.83	3.83	0.44106	GPCR, rhodopsin-like superfamily (1);	0.198321	0.24813	N	0.035392	T	0.81269	0.4787	H	0.98048	4.135	0.31439	N	0.672153	D	0.63046	0.992	D	0.68039	0.955	D	0.87168	0.2219	10	0.87932	D	0	.	14.3601	0.66766	0.0:0.0:1.0:0.0	.	117	Q8NH72	OR4C6_HUMAN	P	117	ENSP00000324769:A117P	ENSP00000324769:A117P	A	+	1	0	OR4C6	55189567	1.000000	0.71417	0.995000	0.50966	0.276000	0.26787	4.040000	0.57333	1.698000	0.51180	0.543000	0.68304	GCC		0.567	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		3	98	0	0	0	0.115264	0	3	98					C	55432991	G	C	55432991	3	2	315	1	0	0	0	0	1	0	0	0	11052	1203	42	4	351	4	OR4C6	11	55432991	Missense_Mutation	SNP	G	TCGA-EM-A3AN-01A-11D-A202-08		55432991	79573525	10	6675											
SSTR2	6752	broad.mit.edu	37	chr17	71166132	71166132	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtacccctcaccatcatctGtctttgctacctgttcatta	5	14	5	0			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr17:71166132G>T	ENST00000357585.2	+	2	1043	c.674G>T	c.(673-675)tGt>tTt	p.C225F	SSTR2_ENST00000315332.2_Missense_Mutation_p.C225F|RP11-143K11.5_ENST00000580671.1_RNA	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	225					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|peristalsis (GO:0030432)|regulation of muscle contraction (GO:0006937)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|somatostatin receptor activity (GO:0004994)			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)		Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	ACCATCATCTGTCTTTGCTAC	0.502																																						ENST00000357585.2																			0				endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11						c.(673-675)tGt>tTt		somatostatin receptor 2							128	119	122					17																	71166132		2203	4300	6503	SO:0001583	missense	0				digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity	g.chr17:71166132G>T		CCDS11691.1	17q24	2012-08-08				ENSG00000180616		"GPCR / Class A : Somatostatin receptors"	11331	protein-coding gene	gene with protein product		182452				8449518	Standard	NM_001050		Approved		uc002jje.3	P30874		ENST00000357585.2:c.674G>T	17.37:g.71166132G>T	ENSP00000350198:p.Cys225Phe					RP11-143K11.5_ENST00000580671.1_RNA|SSTR2_ENST00000315332.2_Missense_Mutation_p.C225F	p.C225F	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		2	1043	+			225					A8K3Y0|B2R9P7|Q4VBP0|Q96GE0|Q96TF2|Q9BWH1	Missense_Mutation	SNP	ENST00000357585.2	37	c.674G>T	CCDS11691.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824926	0.71143	.	.	ENSG00000180616	ENST00000357585;ENST00000315332	T;T	0.72505	-0.66;-0.66	5.64	5.64	0.86602	GPCR, rhodopsin-like superfamily (1);	0.045624	0.85682	D	0.000000	D	0.84561	0.5499	M	0.76433	2.335	0.80722	D	1	D	0.60575	0.988	D	0.73708	0.981	D	0.85688	0.1305	10	0.87932	D	0	.	19.2963	0.94124	0.0:0.0:1.0:0.0	.	225	P30874	SSR2_HUMAN	F	225	ENSP00000350198:C225F;ENSP00000326616:C225F	ENSP00000326616:C225F	C	+	2	0	SSTR2	68677727	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.864000	0.99589	2.657000	0.90304	0.655000	0.94253	TGT		0.502	SSTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441633.1			18	145	1	0	5.03518e-11	0.043863	1.18686e-10	18	145					T	71166132	G	T	71166132	3	4	315	1	0	0	0	0	1	0	0	0	15197	1377	48	4	676	4	SSTR2	17	71166132	Missense_Mutation	SNP	G	TCGA-EM-A3AN-01A-11D-A202-08		71166132	10029078	11	6676											
KLHL14	57565	broad.mit.edu	37	chr18	30349946	30349946	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaggtacttgttggccagCttcttggtctcctccaggcc	10	14	2	0			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr18:30349946C>T	ENST00000359358.4	-	2	1047	c.609G>A	c.(607-609)aaG>aaA	p.K203K	AC012123.1_ENST00000426194.1_Intron|KLHL14_ENST00000358095.4_Silent_p.K203K	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	203						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TGTTGGCCAGCTTCTTGGTCT	0.627																																						ENST00000359358.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						c.(607-609)aaG>aaA		kelch-like family member 14							117	92	100					18																	30349946		2203	4300	6503	SO:0001819	synonymous_variant	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30349946C>T	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"Kelch-like", "BTB/POZ domain containing"	29266	protein-coding gene	gene with protein product	"printor"	613772	"kelch-like 14 (Drosophila)"			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.609G>A	18.37:g.30349946C>T						KLHL14_ENST00000358095.4_Silent_p.K203K|AC012123.1_ENST00000426194.1_Intron	p.K203K	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN			2	1047	-			203					A6NNW1|B4DHA0|Q8WU41	Silent	SNP	ENST00000359358.4	37	c.609G>A	CCDS32813.1																																																																																				0.627	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			4	114	0	0	0	0.014758	0	4	114					T	30349946	C	T	30349946	2	4	315	1	0	0	0	0	0	0	0	1	8370	796	28	2		2	KLHL14	18	30349946	Silent	SNP	C	TCGA-EM-A3AN-01A-11D-A202-08		30349946	47727302	12	6677											
POU2F2	5452	broad.mit.edu	37	chr19	42603703	42603703	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgggaagcccggcccggggCtgggaggtcagaagagctcc	19	11	1	2			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr19:42603703C>A	ENST00000526816.2	-	7	492	c.477G>T	c.(475-477)caG>caT	p.Q159H	POU2F2_ENST00000533720.1_Missense_Mutation_p.Q159H|POU2F2_ENST00000529067.1_Missense_Mutation_p.Q159H|POU2F2_ENST00000529952.1_Missense_Mutation_p.Q159H|POU2F2_ENST00000560558.1_Missense_Mutation_p.Q120H|POU2F2_ENST00000389341.5_Missense_Mutation_p.Q159H|POU2F2_ENST00000342301.4_Missense_Mutation_p.Q159H|POU2F2_ENST00000560398.1_Missense_Mutation_p.Q181H			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	159					cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	CGGCCCGGGGCTGGGAGGTCA	0.607																																						ENST00000389341.5																			0				kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(475-477)caG>caT		POU class 2 homeobox 2							42	44	43					19																	42603703		2203	4300	6503	SO:0001583	missense	5452				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:42603703C>A		CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"Homeoboxes / POU class"	9213	protein-coding gene	gene with protein product		164176	"POU domain class 2, transcription factor 2"	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.477G>T	19.37:g.42603703C>A	ENSP00000431603:p.Gln159His					POU2F2_ENST00000342301.4_Missense_Mutation_p.Q159H|POU2F2_ENST00000533720.1_Missense_Mutation_p.Q159H|POU2F2_ENST00000560558.1_Missense_Mutation_p.Q120H|POU2F2_ENST00000560398.1_Missense_Mutation_p.Q181H|POU2F2_ENST00000529952.1_Missense_Mutation_p.Q159H|POU2F2_ENST00000529067.1_Missense_Mutation_p.Q159H|POU2F2_ENST00000526816.2_Missense_Mutation_p.Q159H	p.Q159H	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN			7	543	-		Prostate(69;0.059)	159					Q16648|Q7M4M8|Q9BRS4	Missense_Mutation	SNP	ENST00000526816.2	37	c.477G>T	CCDS56095.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.659375	0.67586	.	.	ENSG00000028277	ENST00000389341;ENST00000342301;ENST00000292077;ENST00000533720;ENST00000526816;ENST00000529067;ENST00000529952	D;D;D;D;D	0.85258	-1.77;-1.96;-1.89;-1.58;-1.85	4.84	3.81	0.43845	.	0.224628	0.37577	N	0.002034	D	0.89577	0.6755	M	0.66297	2.02	0.33449	D	0.583462	P;P;D	0.57571	0.831;0.947;0.98	P;P;P	0.61592	0.712;0.459;0.891	D	0.93004	0.6426	10	0.87932	D	0	.	12.7305	0.57195	0.0:0.9188:0.0:0.0812	.	159;159;159	P09086-4;P09086;P09086-3	.;PO2F2_HUMAN;.	H	159;159;159;159;158;159;159	ENSP00000373992:Q159H;ENSP00000339369:Q159H;ENSP00000437221:Q159H;ENSP00000437224:Q159H;ENSP00000436988:Q159H	ENSP00000292077:Q159H	Q	-	3	2	POU2F2	47295543	0.997000	0.39634	1.000000	0.80357	0.969000	0.65631	0.439000	0.21575	1.420000	0.47138	-0.126000	0.14955	CAG		0.607	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3			14	32	1	0	2.23348e-06	0.146539	4.91366e-06	14	32					A	42603703	C	A	42603703	3	1	315	1	0	0	0	0	1	0	0	0	12272	796	28	4	946	4	POU2F2	19	42603703	Missense_Mutation	SNP	C	TCGA-EM-A3AN-01A-11D-A202-08		42603703	16525280	13	6678											
PDPN	10630	broad.mit.edu	37	chr1	13936955	13936955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagaaagcacagtccacgCgcaagaacaaagtccaagcg	9	12	1	2	rs189019995		TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr1:13936955C>T	ENST00000509009.1	+	3	304	c.260C>T	c.(259-261)gCg>gTg	p.A87V	PDPN_ENST00000294489.6_Missense_Mutation_p.A168V|PDPN_ENST00000513143.1_Missense_Mutation_p.A50V|PDPN_ENST00000487038.1_Missense_Mutation_p.A50V|PDPN_ENST00000475043.1_Missense_Mutation_p.A50V|PDPN_ENST00000376057.4_Missense_Mutation_p.A168V|PDPN_ENST00000376061.4_Missense_Mutation_p.A50V					podoplanin									p.A168V(1)		endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-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;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		ACAGTCCACGCGCAAGAACAA	0.507													C|||	1	0.000199681	0	0	5008	,	,		18779	0.001		0	False		,,,				2504	0					ENST00000294489.6																			1	Substitution - Missense(1)	p.A168V(1)	kidney(1)	endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16						c.(502-504)gCg>gTg		podoplanin		C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	124	113	116		503,503,149,149	-1.6	0.0	1		116	0,8600		0,0,4300	yes	missense,missense,missense,missense	PDPN	NM_198389.2,NM_006474.4,NM_001006625.1,NM_001006624.1	64,64,64,64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign	168/237,168/239,50/119,50/121	13936955	1,13005	2203	4300	6503	SO:0001583	missense	10630				cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane		g.chr1:13936955C>T	AB127958, AY194238	CCDS30602.1, CCDS41266.1, CCDS44060.1, CCDS53270.1	1p36.21	2008-02-05			ENSG00000162493	ENSG00000162493			29602	protein-coding gene	gene with protein product	"lung type I cell membrane associated glycoprotein"	608863				10393083, 9651190	Standard	NM_006474		Approved	T1A-2, Gp38, aggrus, GP40, PA2.26	uc001avd.3	Q86YL7	OTTHUMG00000007912	ENST00000509009.1:c.260C>T	1.37:g.13936955C>T	ENSP00000422977:p.Ala87Val					PDPN_ENST00000376061.4_Missense_Mutation_p.A50V|PDPN_ENST00000376057.4_Missense_Mutation_p.A168V|PDPN_ENST00000509009.1_Missense_Mutation_p.A87V|PDPN_ENST00000513143.1_Missense_Mutation_p.A50V|PDPN_ENST00000475043.1_Missense_Mutation_p.A50V|PDPN_ENST00000487038.1_Missense_Mutation_p.A50V	p.A168V			Q86YL7	PDPN_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)	3	844	+	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-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)	92						Missense_Mutation	SNP	ENST00000509009.1	37	c.503C>T		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.51	1.959758	0.34565	2.27E-4	0.0	ENSG00000162493	ENST00000294489;ENST00000376057;ENST00000510906;ENST00000509009;ENST00000376061;ENST00000513143;ENST00000487038;ENST00000475043	T;T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46	4.28	-1.63	0.08345	.	0.819946	0.10720	N	0.641896	T	0.18718	0.0449	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.24675	0.109;0.109;0.089;0.089	B;B;B;B	0.19148	0.01;0.01;0.024;0.024	T	0.22730	-1.0208	10	0.42905	T	0.14	0.5252	2.2239	0.03979	0.3274:0.2558:0.318:0.0988	.	92;50;168;168	Q86YL7;E9PB68;Q86YL7-3;Q86YL7-4	PDPN_HUMAN;.;.;.	V	168;168;159;87;50;50;50;50	ENSP00000294489:A168V;ENSP00000365225:A168V;ENSP00000426302:A159V;ENSP00000422977:A87V;ENSP00000365229:A50V;ENSP00000425304:A50V;ENSP00000427537:A50V;ENSP00000426063:A50V	ENSP00000294489:A168V	A	+	2	0	PDPN	13809542	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.378000	0.01068	-0.250000	0.09555	0.650000	0.86243	GCG		0.507	PDPN-009	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367736.1	NM_006474		5	121	0	0	0	0.001984	0	5	121					T	13936955	C	T	13936955	3	4	316	1	0	0	0	0	1	0	0	0	11688	768	27	1	513	1	PDPN	1	13936955	Missense_Mutation	SNP	C	TCGA-EM-A3AO-01A-11D-A202-08		13936955	235313666	1	6679											
WDR52	55779	broad.mit.edu	37	chr3	113115480	113115480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaattttcttccgtcccGcaaaaatcgtgagccctttt	5	13	1	1	rs145391746		TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr3:113115480G>A	ENST00000295868.2	-	14	1826	c.1664C>T	c.(1663-1665)gCg>gTg	p.A555V	WDR52_ENST00000393845.2_Missense_Mutation_p.A555V|WDR52_ENST00000475568.1_5'UTR	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CTTCCGTCCCGCAAAAATCGT	0.398													G|||	1	0.000199681	0	0	5008	,	,		17612	0		0.001	False		,,,				2504	0					ENST00000393845.2																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						c.(1663-1665)gCg>gTg		WD repeat domain 52		G	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	94	97	96		1664,1664	3.5	0.5	3	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	WDR52	NM_001164496.1,NM_018338.3	64,64	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign	555/1855,555/983	113115480	2,13004	2203	4300	6503	SO:0001583	missense	55779							g.chr3:113115480G>A																												ENST00000295868.2:c.1664C>T	3.37:g.113115480G>A	ENSP00000295868:p.Ala555Val					WDR52_ENST00000475568.1_5'UTR|WDR52_ENST00000295868.2_Missense_Mutation_p.A555V	p.A555V	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN			14	1730	-			555						Missense_Mutation	SNP	ENST00000295868.2	37	c.1664C>T	CCDS2972.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	7.112	0.576189	0.13623	2.27E-4	1.16E-4	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.65732	-0.17;0.79	5.39	3.55	0.40652	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.	.	.	.	T	0.53802	0.1819	L	0.44542	1.39	0.30702	N	0.750186	B	0.14012	0.009	B	0.08055	0.003	T	0.49194	-0.8965	9	0.28530	T	0.3	.	13.7098	0.62661	0.1466:0.0:0.8534:0.0	.	555	Q96MT7	WDR52_HUMAN	V	555	ENSP00000377428:A555V;ENSP00000295868:A555V	ENSP00000295868:A555V	A	-	2	0	WDR52	114598170	1.000000	0.71417	0.459000	0.27081	0.019000	0.09904	4.380000	0.59581	0.331000	0.23511	-0.797000	0.03246	GCG		0.398	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			4	78	0	0	0	0.000248	0	4	78					A	113115480	G	A	113115480	3	1	316	1	0	0	0	0	1	0	0	0	17301	1087	38	1	4003	1	WDR52	3	113115480	Missense_Mutation	SNP	G	TCGA-EM-A3AO-01A-11D-A202-08		113115480	84906950	2	6680											
NHEDC2	133308	broad.mit.edu	37	chr4	103988620	103988620	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcacagcttagatttacctGtgcttcttgatgcatggagg	10	8	2	2			TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr4:103988620G>A	ENST00000394785.3	-	2	719	c.88C>T	c.(88-90)Cag>Tag	p.Q30*	SLC9B2_ENST00000362026.3_Nonsense_Mutation_p.Q30*|SLC9B2_ENST00000503230.1_Nonsense_Mutation_p.Q30*|SLC9B2_ENST00000505838.1_5'UTR|SLC9B2_ENST00000339611.4_Nonsense_Mutation_p.Q30*|SLC9B2_ENST00000503103.1_Nonsense_Mutation_p.Q30*	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	30					ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	solute:proton antiporter activity (GO:0015299)										AGATTTACCTGTGCTTCTTGA	0.368																																						ENST00000394785.3																			0											c.(88-90)Cag>Tag		solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2							260	221	234					4																	103988620		2203	4300	6503	SO:0001587	stop_gained	133308				sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity	g.chr4:103988620G>A	AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038		"Solute carriers"	25143	protein-coding gene	gene with protein product		611789	"Na+/H+ exchanger domain containing 2", "solute carrier family 9, subfamily B (cation proton antiporter 2), member 2"	NHEDC2		18600791	Standard	XM_005262758		Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000394785.3:c.88C>T	4.37:g.103988620G>A	ENSP00000378265:p.Gln30*					SLC9B2_ENST00000362026.3_Nonsense_Mutation_p.Q30*|SLC9B2_ENST00000503103.1_Nonsense_Mutation_p.Q30*|SLC9B2_ENST00000339611.4_Nonsense_Mutation_p.Q30*|SLC9B2_ENST00000503230.1_Nonsense_Mutation_p.Q30*|SLC9B2_ENST00000505838.1_5'UTR	p.Q30*	NM_178833.4	NP_849155.2	Q86UD5	NHDC2_HUMAN			2	719	-			30					B5ME52|Q6ZMD8|Q96D95	Nonsense_Mutation	SNP	ENST00000394785.3	37	c.88C>T	CCDS3662.1	.	.	.	.	.	.	.	.	.	.	G	38	6.709784	0.97780	.	.	ENSG00000164038	ENST00000362026;ENST00000339611;ENST00000394785;ENST00000503103;ENST00000503230;ENST00000503818	.	.	.	3.84	3.84	0.44239	.	0.282038	0.25253	N	0.032019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-2.2493	11.585	0.50912	0.0:0.0:1.0:0.0	.	.	.	.	X	30	.	ENSP00000345241:Q30X	Q	-	1	0	SLC9B2	104208069	0.994000	0.37717	0.869000	0.34112	0.773000	0.43773	3.549000	0.53681	2.438000	0.82558	0.655000	0.94253	CAG		0.368	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253805.1	NM_178833		5	85	0	0	0	0.001168	0	5	85					A	103988620	G	A	103988620	4	1	316	1	0	0	0	0	0	1	0	0	10401	1386	48	2	1569	2	NHEDC2	4	103988620	Nonsense_Mutation	SNP	G	TCGA-EM-A3AO-01A-11D-A202-08		103988620	87165656	3	6681											
PDE5A	8654	broad.mit.edu	37	chr4	120463753	120463753	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgaaaggcttaaccttgccaGtattctcctccatcttatta	5	11	2	1			TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr4:120463753G>C	ENST00000354960.3	-	10	1752	c.1433C>G	c.(1432-1434)aCt>aGt	p.T478S	PDE5A_ENST00000512739.1_5'UTR|PDE5A_ENST00000394439.1_Missense_Mutation_p.T426S|RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000264805.5_Missense_Mutation_p.T436S	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	478	GAF 2.				blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	AACCTTGCCAGTATTCTCCTC	0.388																																						ENST00000354960.3																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(1432-1434)aCt>aGt		phosphodiesterase 5A, cGMP-specific	Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)						134	126	129					4																	120463753		2203	4300	6503	SO:0001583	missense	8654				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	g.chr4:120463753G>C	D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"Phosphodiesterases"	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.1433C>G	4.37:g.120463753G>C	ENSP00000347046:p.Thr478Ser					RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000264805.5_Missense_Mutation_p.T436S|PDE5A_ENST00000394439.1_Missense_Mutation_p.T426S|PDE5A_ENST00000512739.1_5'UTR	p.T478S	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN			10	1752	-			478			GAF 2.		A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	ENST00000354960.3	37	c.1433C>G	CCDS3713.1	.	.	.	.	.	.	.	.	.	.	G	8.446	0.852067	0.17034	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	T;T;T	0.62364	0.03;0.08;0.07	5.28	5.28	0.74379	GAF (2);	1.452780	0.03810	N	0.265747	T	0.39410	0.1077	N	0.01410	-0.885	0.26629	N	0.972507	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.10222	-1.0639	10	0.02654	T	1	.	19.2601	0.93964	0.0:0.0:1.0:0.0	.	478;436	O76074;O76074-2	PDE5A_HUMAN;.	S	478;426;436	ENSP00000347046:T478S;ENSP00000377957:T426S;ENSP00000264805:T436S	ENSP00000264805:T436S	T	-	2	0	PDE5A	120683201	0.999000	0.42202	0.027000	0.17364	0.927000	0.56198	7.791000	0.85805	2.641000	0.89580	0.650000	0.86243	ACT		0.388	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	NM_001083		33	56	0	0	0	0.005524	0	33	56					C	120463753	G	C	120463753	3	2	316	1	0	0	0	0	1	0	0	0	11644	1029	36	4	1242	4	PDE5A	4	120463753	Missense_Mutation	SNP	G	TCGA-EM-A3AO-01A-11D-A202-08	16475133	120463753	70690523	4	6682											
DLGAP2	9228	broad.mit.edu	37	chr8	1497638	1497638	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccttcggggacctgtcccTcaagacctccaagagcaaca	8	17	1	2			TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr8:1497638T>C	ENST00000421627.2	+	2	913	c.779T>C	c.(778-780)cTc>cCc	p.L260P		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	339					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GACCTGTCCCTCAAGACCTCC	0.667																																						ENST00000421627.2																			0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(778-780)cTc>cCc		discs, large (Drosophila) homolog-associated protein 2							50	57	55					8																	1497638		2115	4247	6362	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1497638T>C	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"discs, large (Drosophila) homolog-associated protein 2"			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.779T>C	8.37:g.1497638T>C	ENSP00000400258:p.Leu260Pro						p.L260P	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	2	913	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	339					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.779T>C	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.85|18.85	3.711050|3.711050	0.68730|0.68730	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	T|.	0.19250|.	2.16|.	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80481|0.80481	0.4631|0.4631	M|M	0.88450|0.88450	2.955|2.955	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.999|.	D|D	0.84080|0.84080	0.0384|0.0384	10|5	0.87932|.	D|.	0|.	-12.3503|-12.3503	15.2356|15.2356	0.73427|0.73427	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	339;339|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	P|P	305;260|277	ENSP00000400258:L260P|.	ENSP00000348366:L305P|.	L|S	+|+	2|1	0|0	DLGAP2|DLGAP2	1485045|1485045	1.000000|1.000000	0.71417|0.71417	0.142000|0.142000	0.22268|0.22268	0.603000|0.603000	0.37013|0.37013	7.262000|7.262000	0.78410|0.78410	1.992000|1.992000	0.58205|0.58205	0.533000|0.533000	0.62120|0.62120	CTC|TCA		0.667	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		3	127	0	0	0	0.004672	0	3	127					C	1497638	T	C	1497638	3	2	316	1	0	0	0	0	1	0	0	0	4560	1551	54	3	781	3	DLGAP2	8	1497638	Missense_Mutation	SNP	T	TCGA-EM-A3AO-01A-11D-A202-08		1497638	144866384	5	6683											
TG	7038	broad.mit.edu	37	chr8	133883736	133883736	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcaggtccagtgctggTgtgtggacgcagaggggatg	19	7	0	1			TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr8:133883736T>G	ENST00000220616.4	+	4	458	c.418T>G	c.(418-420)Tgt>Ggt	p.C140G	TG_ENST00000377869.1_Missense_Mutation_p.C140G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	140	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCAGTGCTGGTGTGTGGACGC	0.597																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(418-420)Tgt>Ggt		thyroglobulin							146	107	120					8																	133883736		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133883736T>G	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.418T>G	8.37:g.133883736T>G	ENSP00000220616:p.Cys140Gly					TG_ENST00000377869.1_Missense_Mutation_p.C140G	p.C140G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	4	458	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	140			Thyroglobulin type-1 2.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.418T>G	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	T	17.85	3.489231	0.64074	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	D;D	0.87412	-2.25;-2.25	5.58	5.58	0.84498	Thyroglobulin type-1 (6);	0.000000	0.64402	D	0.000001	D	0.95778	0.8626	H	0.97682	4.055	0.53688	D	0.999977	D	0.89917	1.0	D	0.97110	1.0	D	0.97027	0.9747	10	0.87932	D	0	.	13.4922	0.61402	0.0:0.0:0.0:1.0	.	140	P01266	THYG_HUMAN	G	140	ENSP00000367100:C140G;ENSP00000220616:C140G	ENSP00000220616:C140G	C	+	1	0	TG	133952918	1.000000	0.71417	1.000000	0.80357	0.346000	0.29079	7.304000	0.78882	2.125000	0.65367	0.377000	0.23210	TGT		0.597	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		27	50	0	0	0	0.005443	0	27	50					G	133883736	T	G	133883736	3	3	316	1	0	0	0	0	1	0	0	0	15810	1696	59	5	432	5	TG	8	133883736	Missense_Mutation	SNP	T	TCGA-EM-A3AO-01A-11D-A202-08	132386098	133883736	12480286	6	6684											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57075943	57075943	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctccaaggaagacgaggaGtaatcttcaccctgggtctc	12	11	3	1			TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr11:57075943G>A	ENST00000532437.1	-	5	4553	c.4242C>T	c.(4240-4242)taC>taT	p.Y1414Y	TNKS1BP1_ENST00000358252.3_Silent_p.Y1414Y|TNKS1BP1_ENST00000530920.1_5'Flank			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1414	Acidic.				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)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				AAGACGAGGAGTAATCTTCAC	0.602																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4240-4242)taC>taT		tankyrase 1 binding protein 1, 182kDa							194	202	199					11																	57075943		2201	4296	6497	SO:0001819	synonymous_variant	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57075943G>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.4242C>T	11.37:g.57075943G>A						TNKS1BP1_ENST00000358252.3_Silent_p.Y1414Y	p.Y1414Y			Q9C0C2	TB182_HUMAN			5	4553	-		all_epithelial(135;0.21)	1414			Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Silent	SNP	ENST00000532437.1	37	c.4242C>T	CCDS7951.1																																																																																				0.602	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		130	287	0	0	0	0.00361	0	130	287					A	57075943	G	A	57075943	2	1	316	1	0	0	0	0	0	0	0	1	16317	1024	36	2		2	TNKS1BP1	11	57075943	Silent	SNP	G	TCGA-EM-A3AO-01A-11D-A202-08		57075943	77930573	7	6685											
MYH6	4624	broad.mit.edu	37	chr14	23866411	23866411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcattggggatgatgcaaCgcacaaagtgaggatgggtg	16	6	1	2			TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr14:23866411C>T	ENST00000356287.3	-	16	2047	c.2018G>A	c.(2017-2019)cGt>cAt	p.R673H	MYH6_ENST00000405093.3_Missense_Mutation_p.R673H			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	673	Actin-binding.|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)	p.R673H(1)		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)		GATGATGCAACGCACAAAGTG	0.542																																						ENST00000405093.3																			1	Substitution - Missense(1)	p.R673H(1)	prostate(1)	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.(2017-2019)cGt>cAt		myosin, heavy chain 6, cardiac muscle, alpha							167	159	161					14																	23866411		2203	4300	6503	SO:0001583	missense	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.chr14:23866411C>T	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.2018G>A	14.37:g.23866411C>T	ENSP00000348634:p.Arg673His					MYH6_ENST00000356287.3_Missense_Mutation_p.R673H	p.R673H	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)	17	2088	-	all_cancers(95;2.54e-05)		673			Actin-binding.|Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.2018G>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	27.8	4.865066	0.91511	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.90620	-2.7;-2.7	4.26	4.26	0.50523	Myosin head, motor domain (2);	.	.	.	.	D	0.97813	0.9282	H	0.99825	4.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99705	1.1005	9	0.87932	D	0	.	17.2018	0.86908	0.0:1.0:0.0:0.0	.	673	P13533	MYH6_HUMAN	H	673	ENSP00000386041:R673H;ENSP00000348634:R673H	ENSP00000348634:R673H	R	-	2	0	MYH6	22936251	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.219000	0.78000	2.382000	0.81193	0.650000	0.86243	CGT		0.542	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			64	138	0	0	0	0.00361	0	64	138					T	23866411	C	T	23866411	3	4	316	1	0	0	0	0	1	0	0	0	10038	536	19	1	3893	1	MYH6	14	23866411	Missense_Mutation	SNP	C	TCGA-EM-A3AO-01A-11D-A202-08		23866411	83483129	8	6686											
ITGAL	3683	broad.mit.edu	37	chr16	30495432	30495432	+	Splice_Site	DEL	A	A	-													ttcactctccactccctcacAgattggaaagcattttcaga							TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr16:30495432delA	ENST00000356798.6	+	9	1035		c.e9-1		RNU7-61P_ENST00000515897.1_RNA|RP11-297C4.3_ENST00000562525.1_RNA|ITGAL_ENST00000454514.2_Splice_Site|ITGAL_ENST00000358164.5_Splice_Site|ITGAL_ENST00000433423.2_Intron|RP11-297C4.2_ENST00000569459.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)						activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	ACTCCCTCACAGATTGGAAAG	0.488																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.e9-1		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						114	111	112					16																	30495432		2197	4300	6497	SO:0001630	splice_region_variant	0				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30495432delA		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"CD molecules", "Integrins"	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.856-1A>-	16.37:g.30495432delA						ITGAL_ENST00000454514.2_Splice_Site|ITGAL_ENST00000358164.5_Splice_Site|RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000433423.2_Intron		NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			9	1035	+								O43746|Q45H73|Q96HB1|Q9UBC8	Splice_Site	DEL	ENST00000356798.6	37		CCDS32433.1																																																																																				0.488	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2		Intron	82	147						82	147	---	---	---	---	-	30495432	A	-	30495432	8	5	316	1	0	1	0	1	0	0	1	0	7886	202	7	0	888	0	ITGAL	16	30495432	Splice_Site	DEL	A	TCGA-EM-A3AO-01A-11D-A202-08		30495432	59859321	9	6687											
NEK8	284086	broad.mit.edu	37	chr17	27068491	27068491	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgggaaggagggatgaggAtgccggactccctcggccag	17	9	0	1			TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr17:27068491A>G	ENST00000268766.6	+	14	1986	c.1952A>G	c.(1951-1953)gAt>gGt	p.D651G	TRAF4_ENST00000262396.6_5'Flank|AC010761.6_ENST00000584779.1_RNA|AC010761.6_ENST00000582536.1_RNA|TRAF4_ENST00000444415.3_5'Flank|TRAF4_ENST00000262395.5_5'Flank	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	651					organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					AGGGATGAGGATGCCGGACTC	0.592																																					NSCLC(6;19 293 14866 25253 49845)	ENST00000268766.6																			0				breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1951-1953)gAt>gGt		NIMA-related kinase 8							141	109	120					17																	27068491		2203	4300	6503	SO:0001583	missense	284086					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:27068491A>G	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"NIMA (never in mitosis gene a)- related kinase 8"			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.1952A>G	17.37:g.27068491A>G	ENSP00000268766:p.Asp651Gly					AC010761.6_ENST00000584779.1_RNA	p.D651G	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN			14	1986	+	Lung NSC(42;0.0158)		651					A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP	ENST00000268766.6	37	c.1952A>G	CCDS32597.1	.	.	.	.	.	.	.	.	.	.	A	10.90	1.482019	0.26598	.	.	ENSG00000160602	ENST00000268766	D	0.81579	-1.51	5.61	5.61	0.85477	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.111165	0.64402	D	0.000008	T	0.70996	0.3288	L	0.38175	1.15	0.58432	D	0.999997	B	0.13145	0.007	B	0.12156	0.007	T	0.66563	-0.5892	10	0.39692	T	0.17	.	9.4751	0.38867	0.9213:0.0:0.0787:0.0	.	651	Q86SG6	NEK8_HUMAN	G	651	ENSP00000268766:D651G	ENSP00000268766:D651G	D	+	2	0	NEK8	24092618	1.000000	0.71417	0.997000	0.53966	0.895000	0.52256	7.554000	0.82212	2.127000	0.65507	0.533000	0.62120	GAT		0.592	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2			26	52	0	0	0	0.003954	0	26	52					G	27068491	A	G	27068491	3	3	316	1	0	0	0	0	1	0	0	0	10330	333	12	3	2006	3	NEK8	17	27068491	Missense_Mutation	SNP	A	TCGA-EM-A3AO-01A-11D-A202-08		27068491	54126719	10	6688											
BCAS3	54828	broad.mit.edu	37	chr17	59024649	59024649	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccaaattctgactcatccttGgtcctcatcacaatgtgctg	6	13	4	1	rs200515922	byFrequency	TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr17:59024649G>C	ENST00000390652.5	+	14	1188	c.1157G>C	c.(1156-1158)tGg>tCg	p.W386S	BCAS3_ENST00000588462.1_Missense_Mutation_p.W386S|BCAS3_ENST00000407086.3_Missense_Mutation_p.W386S|BCAS3_ENST00000585744.1_Missense_Mutation_p.W157S|BCAS3_ENST00000589222.1_Missense_Mutation_p.W386S|BCAS3_ENST00000588874.1_Missense_Mutation_p.W157S|BCAS3_ENST00000408905.3_Missense_Mutation_p.W386S	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			ACTCATCCTTGGTCCTCATCA	0.413																																						ENST00000589222.1																			0				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1156-1158)tGg>tCg		breast carcinoma amplified sequence 3							205	188	194					17																	59024649		1917	4145	6062	SO:0001583	missense	54828					nucleus		g.chr17:59024649G>C	AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"WD repeat domain containing"	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.1157G>C	17.37:g.59024649G>C	ENSP00000375067:p.Trp386Ser					BCAS3_ENST00000407086.3_Missense_Mutation_p.W386S|BCAS3_ENST00000588874.1_Missense_Mutation_p.W157S|BCAS3_ENST00000408905.3_Missense_Mutation_p.W386S|BCAS3_ENST00000585744.1_Missense_Mutation_p.W157S|BCAS3_ENST00000588462.1_Missense_Mutation_p.W386S|BCAS3_ENST00000390652.5_Missense_Mutation_p.W386S	p.W386S			Q9H6U6	BCAS3_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		14	1225	+			386						Missense_Mutation	SNP	ENST00000390652.5	37	c.1157G>C	CCDS45749.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693408	0.48202	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000405070;ENST00000408905;ENST00000360207;ENST00000405217	T;T;T	0.05717	3.4;3.4;3.4	5.78	5.78	0.91487	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.14787	0.0357	N	0.21545	0.675	0.80722	D	1	B;B;D;D;D	0.64830	0.267;0.001;0.994;0.99;0.994	B;B;D;D;D	0.75484	0.116;0.003;0.986;0.969;0.986	T	0.30208	-0.9986	10	0.18710	T	0.47	.	19.9997	0.97405	0.0:0.0:1.0:0.0	.	177;191;386;386;386	B4E3M9;Q70WD9;Q9H6U6-7;Q9H6U6;Q9H6U6-2	.;.;.;BCAS3_HUMAN;.	S	386;386;386;386;178;191	ENSP00000375067:W386S;ENSP00000385323:W386S;ENSP00000386173:W386S	ENSP00000353336:W178S	W	+	2	0	BCAS3	56379431	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.519000	0.81809	2.717000	0.92951	0.585000	0.79938	TGG		0.413	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679		7	209	0	0	0	0.00308	0	7	209					C	59024649	G	C	59024649	3	2	316	1	0	0	0	0	1	0	0	0	1352	1357	47	4	1207	4	BCAS3	17	59024649	Missense_Mutation	SNP	G	TCGA-EM-A3AO-01A-11D-A202-08	31956158	59024649	22170561	11	6689											
KCNG2	26251	broad.mit.edu	37	chr18	77659600	77659600	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatcctcagcggcatcctGctcatggccttcccggtcac	9	17	3	0			TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr18:77659600G>A	ENST00000316249.3	+	2	1185	c.1185G>A	c.(1183-1185)ctG>ctA	p.L395L	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	395					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GCGGCATCCTGCTCATGGCCT	0.692																																						ENST00000316249.3																			0				breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18						c.(1183-1185)ctG>ctA		potassium voltage-gated channel, subfamily G, member 2							63	58	59					18																	77659600		2203	4300	6503	SO:0001819	synonymous_variant	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77659600G>A	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.1185G>A	18.37:g.77659600G>A						KCNG2_ENST00000590307.1_3'UTR	p.L395L	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	2	1185	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	395						Silent	SNP	ENST00000316249.3	37	c.1185G>A	CCDS12019.1																																																																																				0.692	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		7	73	0	0	0	0.001984	0	7	73					A	77659600	G	A	77659600	2	1	316	1	0	0	0	0	0	0	0	1	8028	1306	46	2		2	KCNG2	18	77659600	Silent	SNP	G	TCGA-EM-A3AO-01A-11D-A202-08		77659600	417648	12	6690											
LRRN4	164312	broad.mit.edu	37	chr20	6022440	6022440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacgaggtagggaaggggCccaggagcttgctggccagt	17	11	0	0			TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr20:6022440C>T	ENST00000378858.4	-	5	1675	c.1451G>A	c.(1450-1452)gGc>gAc	p.G484D		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	484					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						AGGGAAGGGGCCCAGGAGCTT	0.657																																						ENST00000378858.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						c.(1450-1452)gGc>gAc		leucine rich repeat neuronal 4							105	112	109					20																	6022440		2203	4300	6503	SO:0001583	missense	164312					integral to membrane		g.chr20:6022440C>T	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"Fibronectin type III domain containing"	16208	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 75"	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.1451G>A	20.37:g.6022440C>T	ENSP00000368135:p.Gly484Asp						p.G484D	NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN			5	1675	-			484					A8K258|Q5JWV6|Q9H419	Missense_Mutation	SNP	ENST00000378858.4	37	c.1451G>A	CCDS13097.1	.	.	.	.	.	.	.	.	.	.	C	5.027	0.190693	0.09547	.	.	ENSG00000125872	ENST00000378858	T	0.57273	0.41	4.87	-1.82	0.07857	.	1.523810	0.03764	N	0.258592	T	0.31765	0.0807	L	0.27053	0.805	0.09310	N	1	B	0.15473	0.013	B	0.14023	0.01	T	0.06197	-1.0840	10	0.09084	T	0.74	-0.0398	1.3776	0.02224	0.337:0.3209:0.0927:0.2494	.	484	Q8WUT4	LRRN4_HUMAN	D	484	ENSP00000368135:G484D	ENSP00000368135:G484D	G	-	2	0	LRRN4	5970440	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.871000	0.04223	-0.577000	0.05967	-1.134000	0.01955	GGC		0.657	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		45	115	0	0	0	0.002222	0	45	115					T	6022440	C	T	6022440	3	4	316	1	0	0	0	0	1	0	0	0	9037	739	26	2	775	2	LRRN4	20	6022440	Missense_Mutation	SNP	C	TCGA-EM-A3AO-01A-11D-A202-08		6022440	57003080	13	6691											
NRAS	4893	broad.mit.edu	37	chr1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catggcactgtactcttcttGtccagctgtatccagtatgt	8	11	2	0	rs121913254		TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		610	Substitution - Missense(609)|Complex(1)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)	skin(372)|haematopoietic_and_lymphoid_tissue(73)|thyroid(55)|NS(29)|large_intestine(28)|soft_tissue(16)|lung(12)|autonomic_ganglia(6)|liver(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|cervix(2)|endometrium(2)|pancreas(2)|meninges(1)|kidney(1)|biliary_tract(1)|stomach(1)|ovary(1)|bone(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)Caa>Aaa		neuroblastoma RAS viral (v-ras) oncogene homolog							180	156	164					1																	115256530		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256530G>T	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.181C>A	1.37:g.115256530G>T	ENSP00000358548:p.Gln61Lys	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61K	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	434	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.181C>A	CCDS877.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255564	0.95336	.	.	ENSG00000213281	ENST00000369535	D	0.83506	-1.73	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.91845	0.7419	H	0.95850	3.73	0.80722	D	1	P	0.51791	0.948	P	0.54759	0.76	D	0.93711	0.7024	10	0.62326	D	0.03	.	18.6626	0.91477	0.0:0.0:1.0:0.0	.	61	P01111	RASN_HUMAN	K	61	ENSP00000358548:Q61K	ENSP00000358548:Q61K	Q	-	1	0	NRAS	115058053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.520000	0.98027	2.624000	0.88883	0.655000	0.94253	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		90	204	1	0	2.48367e-54	0.870114	3.04035e-54	90	204					T	115256530	G	T	115256530	3	4	317	1	0	0	0	0	1	0	0	0	10640	1386	48	4	400	4	NRAS	1	115256530	Missense_Mutation	SNP	G	TCGA-EM-A3AP-01A-12D-A20C-08		115256530	133994091	1	6692											
RPTN	126638	broad.mit.edu	37	chr1	152127881	152127884	+	Frame_Shift_Del	DEL	TGTC	TGTC	-													cataatgatagctctggcctTgtctgtctgtctgaccgtag							TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr1:152127881_152127884delTGTC	ENST00000316073.3	-	3	1755_1758	c.1691_1694delGACA	c.(1690-1695)agacaafs	p.RQ564fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	564	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GCTCTGGCCTTGTCTGTCTGTCTG	0.485																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1690-1695)aafs		repetin																																				SO:0001589	frameshift_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152127881_152127884delTGTC	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1691_1694delGACA	1.37:g.152127889_152127892delTGTC	ENSP00000317895:p.Arg564fs						p.RQ564fs	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1755_1758	-			564			Gln-rich.		B7ZBZ3	Frame_Shift_Del	DEL	ENST00000316073.3	37	c.1691_1694delGACA	CCDS41397.1																																																																																				0.485	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		7	1465						7	1465	---	---	---	---	-	152127884	TGTC	-	152127881	7	5	317	1	0	1	0	1	0	0	0	0	13664	1812	63	0	664	0	RPTN	1	152127881	Frame_Shift_Del	DEL	TGTC	TCGA-EM-A3AP-01A-12D-A20C-08	36871351	152127881	97122740	2	6693											
KIF14	9928	broad.mit.edu	37	chr1	200539119	200539119	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagaaattcttctgttcttcAtcaaactcctactcctgaaa	3	12	5	2	rs369078617		TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr1:200539119A>T	ENST00000367350.4	-	23	4019	c.3581T>A	c.(3580-3582)aTg>aAg	p.M1194K		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1194	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TCTGTTCTTCATCAAACTCCT	0.289																																						ENST00000367350.4																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						c.(3580-3582)aTg>aAg		kinesin family member 14							113	116	115					1																	200539119		2203	4300	6503	SO:0001583	missense	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200539119A>T	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"Kinesins"	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.3581T>A	1.37:g.200539119A>T	ENSP00000356319:p.Met1194Lys						p.M1194K	NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN			23	4019	-			1194			Required for CIT-binding.		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	c.3581T>A	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.905213	0.52333	.	.	ENSG00000118193	ENST00000367350	T	0.15834	2.39	5.68	4.55	0.56014	.	0.053961	0.85682	D	0.000000	T	0.16085	0.0387	M	0.62723	1.935	0.36834	D	0.887056	P	0.44816	0.844	B	0.36666	0.23	T	0.12553	-1.0543	10	0.45353	T	0.12	.	8.1761	0.31283	0.7955:0.1345:0.07:0.0	.	1194	Q15058	KIF14_HUMAN	K	1194	ENSP00000356319:M1194K	ENSP00000356319:M1194K	M	-	2	0	KIF14	198805742	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.511000	0.60462	0.973000	0.38340	0.482000	0.46254	ATG		0.289	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		41	84	0	0	0	0.870114	0	41	84					T	200539119	A	T	200539119	3	4	317	1	0	0	0	0	1	0	0	0	8276	217	8	5	1397	5	KIF14	1	200539119	Missense_Mutation	SNP	A	TCGA-EM-A3AP-01A-12D-A20C-08	48411238	200539119	48711502	3	6694											
OR2M2	391194	broad.mit.edu	37	chr1	248344320	248344320	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatactagcattgattatgTacattgcctaacatatttat	4	6	0	1			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr1:248344320T>C	ENST00000359682.2	+	1	1033	c.1033T>C	c.(1033-1035)Tac>Cac	p.Y345H		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	345						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATTGATTATGTACATTGCCTA	0.264																																						ENST00000359682.2																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70						c.(1033-1035)Tac>Cac		olfactory receptor, family 2, subfamily M, member 2							115	124	121					1																	248344320		2203	4300	6503	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248344320T>C	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"GPCR / Class A : Olfactory receptors"	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.1033T>C	1.37:g.248344320T>C	ENSP00000352710:p.Tyr345His						p.Y345H	NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	1033	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		345					A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.1033T>C	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	t	4.930	0.172848	0.09391	.	.	ENSG00000198601	ENST00000359682	T	0.20463	2.07	2.77	0.0442	0.14224	.	.	.	.	.	T	0.09247	0.0228	N	0.14661	0.345	0.09310	N	1	B	0.32876	0.388	B	0.25987	0.065	T	0.25779	-1.0122	9	0.87932	D	0	.	2.3813	0.04355	0.2399:0.1535:0.0:0.6066	.	345	Q96R28	OR2M2_HUMAN	H	345	ENSP00000352710:Y345H	ENSP00000352710:Y345H	Y	+	1	0	OR2M2	246410943	.	.	0.001000	0.08648	0.002000	0.02628	.	.	0.175000	0.19841	-0.933000	0.02702	TAC		0.264	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		4	146	0	0	0	0.150653	0	4	146					C	248344320	T	C	248344320	3	2	317	1	0	0	0	0	1	0	0	0	11010	1638	57	3	1035	3	OR2M2	1	248344320	Missense_Mutation	SNP	T	TCGA-EM-A3AP-01A-12D-A20C-08	47805201	248344320	906301	4	6695											
COL6A3	1293	broad.mit.edu	37	chr2	238277411	238277411	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctaaactcacaatgcccgaGgaacggatcacctgggcgaa	10	13	2	0			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr2:238277411G>A	ENST00000295550.4	-	10	5147	c.4695C>T	c.(4693-4695)tcC>tcT	p.S1565S	COL6A3_ENST00000347401.3_Silent_p.S1364S|COL6A3_ENST00000409809.1_Silent_p.S1359S|COL6A3_ENST00000346358.4_Silent_p.S1365S|COL6A3_ENST00000472056.1_Silent_p.S958S|COL6A3_ENST00000353578.4_Silent_p.S1359S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1565	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CAATGCCCGAGGAACGGATCA	0.582																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(4693-4695)tcC>tcT		collagen, type VI, alpha 3							133	119	124					2																	238277411		2203	4300	6503	SO:0001819	synonymous_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238277411G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.4695C>T	2.37:g.238277411G>A						COL6A3_ENST00000347401.3_Silent_p.S1364S|COL6A3_ENST00000472056.1_Silent_p.S958S|COL6A3_ENST00000409809.1_Silent_p.S1359S|COL6A3_ENST00000346358.4_Silent_p.S1365S|COL6A3_ENST00000353578.4_Silent_p.S1359S	p.S1565S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	10	5147	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1565			Nonhelical region.|VWFA 8.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	c.4695C>T	CCDS33412.1																																																																																				0.582	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		4	221	0	0	0	0.184627	0	4	221					A	238277411	G	A	238277411	2	1	317	1	0	0	0	0	0	0	0	1	3701	987	35	2		2	COL6A3	2	238277411	Silent	SNP	G	TCGA-EM-A3AP-01A-12D-A20C-08		238277411	4921962	5	6696											
TMEM89	440955	broad.mit.edu	37	chr3	48658391	48658391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtgcaggaccccacggaGcagggtgtggtctgagattg	16	9	1	1			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr3:48658391G>A	ENST00000330862.3	-	2	462	c.364C>T	c.(364-366)Ctc>Ttc	p.L122F		NM_001008269.1	NP_001008270.1	A2RUT3	TMM89_HUMAN	transmembrane protein 89	122						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|lung(1)|stomach(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		ACCCCACGGAGCAGGGTGTGG	0.612																																						ENST00000330862.3																			0				breast(1)|lung(1)|stomach(1)	3						c.(364-366)Ctc>Ttc		transmembrane protein 89							89	75	80					3																	48658391		2203	4300	6503	SO:0001583	missense	440955					integral to membrane		g.chr3:48658391G>A	AX657016	CCDS33751.1	3p21.31	2005-11-02			ENSG00000183396	ENSG00000183396			32372	protein-coding gene	gene with protein product							Standard	NM_001008269		Approved		uc011bbo.2	A2RUT3	OTTHUMG00000156647	ENST00000330862.3:c.364C>T	3.37:g.48658391G>A	ENSP00000329557:p.Leu122Phe						p.L122F	NM_001008269.1	NP_001008270.1	A2RUT3	TMM89_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	2	462	-			122						Missense_Mutation	SNP	ENST00000330862.3	37	c.364C>T	CCDS33751.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.976502	0.53720	.	.	ENSG00000183396	ENST00000330862	T	0.53206	0.63	4.83	1.93	0.25924	.	0.426079	0.17466	N	0.173268	T	0.51770	0.1694	L	0.42245	1.32	0.09310	N	1	D	0.63046	0.992	P	0.59487	0.858	T	0.39396	-0.9616	10	0.62326	D	0.03	-11.7667	8.0254	0.30434	0.0:0.3446:0.4898:0.1656	.	122	A2RUT3	TMM89_HUMAN	F	122	ENSP00000329557:L122F	ENSP00000329557:L122F	L	-	1	0	TMEM89	48633395	0.355000	0.24921	0.005000	0.12908	0.008000	0.06430	0.586000	0.23894	0.204000	0.20548	0.563000	0.77884	CTC		0.612	TMEM89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345046.1	NM_001008269		3	118	0	0	0	0.150653	0	3	118					A	48658391	G	A	48658391	3	1	317	1	0	0	0	0	1	0	0	0	16210	971	34	2	118	2	TMEM89	3	48658391	Missense_Mutation	SNP	G	TCGA-EM-A3AP-01A-12D-A20C-08		48658391	149364039	6	6697											
CPE	1363	broad.mit.edu	37	chr4	166416761	166416761	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacctggaaactataaacttAcagcctcagctccaggctat	6	12	1	0			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr4:166416761A>G	ENST00000402744.4	+	8	1544	c.1264A>G	c.(1264-1266)Aca>Gca	p.T422A		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	422					cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)	carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	CTATAAACTTACAGCCTCAGC	0.408																																						ENST00000402744.4																			0				endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(1264-1266)Aca>Gca		carboxypeptidase E	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						140	135	137					4																	166416761		2203	4300	6503	SO:0001583	missense	1363				cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding	g.chr4:166416761A>G	X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	3.4.17.10		2303	protein-coding gene	gene with protein product	"carboxypeptidase H", "enkephalin convertase", "insulin granule-associated carboxypeptidase", "cobalt-stimulated chromaffin granule carboxypeptidase"	114855				2334405	Standard	NM_001873		Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.1264A>G	4.37:g.166416761A>G	ENSP00000386104:p.Thr422Ala						p.T422A	NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN		GBM - Glioblastoma multiforme(119;0.137)	8	1544	+	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)	422					A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Missense_Mutation	SNP	ENST00000402744.4	37	c.1264A>G	CCDS3810.1	.	.	.	.	.	.	.	.	.	.	A	16.07	3.019012	0.54576	.	.	ENSG00000109472	ENST00000402744	T	0.48522	0.81	5.65	5.65	0.86999	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.165377	0.53938	D	0.000051	T	0.49966	0.1588	M	0.67625	2.065	0.47065	D	0.999303	B	0.16166	0.016	B	0.19148	0.024	T	0.49597	-0.8923	10	0.66056	D	0.02	-6.5633	15.8663	0.79067	1.0:0.0:0.0:0.0	.	422	P16870	CBPE_HUMAN	A	422	ENSP00000386104:T422A	ENSP00000386104:T422A	T	+	1	0	CPE	166636211	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	4.360000	0.59455	2.152000	0.67230	0.482000	0.46254	ACA		0.408	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	NM_001873		10	181	0	0	0	0.38729	0	10	181					G	166416761	A	G	166416761	3	3	317	1	0	0	0	0	1	0	0	0	3799	391	14	3	1294	3	CPE	4	166416761	Missense_Mutation	SNP	A	TCGA-EM-A3AP-01A-12D-A20C-08		166416761	24737515	7	6698											
IK	3550	broad.mit.edu	37	chr5	140032663	140032663	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gagagatggagtgaacaaagAttatgaagaaaccgagctta	12	4	0	5			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr5:140032663A>T	ENST00000417647.2	+	5	477	c.338A>T	c.(337-339)gAt>gTt	p.D113V	IK_ENST00000523672.1_3'UTR	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	113					cell-cell signaling (GO:0007267)|immune response (GO:0006955)	extracellular space (GO:0005615)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAACAAAGATTATGAAGAA	0.502																																						ENST00000417647.2																			0				large_intestine(1)	1						c.(337-339)gAt>gTt		IK cytokine, down-regulator of HLA II							105	102	103					5																	140032663		1952	4142	6094	SO:0001583	missense	3550				cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction		g.chr5:140032663A>T	BC051295	CCDS47280.1	5q31.3	2008-08-07			ENSG00000113141	ENSG00000113141			5958	protein-coding gene	gene with protein product		600549				7970704	Standard	NM_006083		Approved		uc003lgq.3	Q13123	OTTHUMG00000163374	ENST00000417647.2:c.338A>T	5.37:g.140032663A>T	ENSP00000396301:p.Asp113Val					IK_ENST00000523672.1_3'UTR	p.D113V	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	477	+		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	113					Q6IPD8	Missense_Mutation	SNP	ENST00000417647.2	37	c.338A>T	CCDS47280.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.956340	0.92726	.	.	ENSG00000113141	ENST00000417647;ENST00000507593;ENST00000508301;ENST00000261812;ENST00000502899	.	.	.	5.94	5.94	0.96194	RED-like, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86522	0.5953	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.995;0.998	D	0.89941	0.4073	8	.	.	.	.	16.069	0.80909	1.0:0.0:0.0:0.0	.	113;113	Q9UK43;Q13123	.;RED_HUMAN	V	113;120;113;113;113	.	.	D	+	2	0	IK	140012847	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.086000	0.94088	2.275000	0.75901	0.528000	0.53228	GAT		0.502	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372897.1	NM_006083		34	80	0	0	0	0.796494	0	34	80					T	140032663	A	T	140032663	3	4	317	1	0	0	0	0	1	0	0	0	7608	333	12	5	356	5	IK	5	140032663	Missense_Mutation	SNP	A	TCGA-EM-A3AP-01A-12D-A20C-08		140032663	40882597	8	6699											
ADAMTS2	9509	broad.mit.edu	37	chr5	178541107	178541107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggtgcttggtgatggccGcacctccatggctacagtgg	17	10	0	1	rs545409845		TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr5:178541107G>A	ENST00000251582.7	-	22	3498	c.3397C>T	c.(3397-3399)Cgg>Tgg	p.R1133W		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1133					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGTGATGGCCGCACCTCCATG	0.587													G|||	1	0.000199681	0	0	5008	,	,		18045	0.001		0	False		,,,				2504	0					ENST00000251582.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(3397-3399)Cgg>Tgg		ADAM metallopeptidase with thrombospondin type 1 motif, 2							176	153	161					5																	178541107		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178541107G>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.3397C>T	5.37:g.178541107G>A	ENSP00000251582:p.Arg1133Trp						p.R1133W	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	22	3498	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	1133						Missense_Mutation	SNP	ENST00000251582.7	37	c.3397C>T	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	G	7.367	0.625949	0.14257	.	.	ENSG00000087116	ENST00000251582	T	0.59906	0.23	5.05	3.23	0.37069	.	0.828579	0.10123	N	0.713134	T	0.29389	0.0732	N	0.08118	0	0.09310	N	1	P	0.35107	0.484	B	0.14023	0.01	T	0.12142	-1.0559	10	0.49607	T	0.09	.	4.5817	0.12262	0.2605:0.1681:0.5714:0.0	.	1133	O95450	ATS2_HUMAN	W	1133	ENSP00000251582:R1133W	ENSP00000251582:R1133W	R	-	1	2	ADAMTS2	178473713	0.002000	0.14202	0.001000	0.08648	0.025000	0.11179	1.318000	0.33643	0.481000	0.27557	0.561000	0.74099	CGG		0.587	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		4	183	0	0	0	0.150653	0	4	183					A	178541107	G	A	178541107	3	1	317	1	0	0	0	0	1	0	0	0	265	1086	38	1	242	1	ADAMTS2	5	178541107	Missense_Mutation	SNP	G	TCGA-EM-A3AP-01A-12D-A20C-08	38508444	178541107	2374153	9	6700											
OGDH	4967	broad.mit.edu	37	chr7	44663986	44663986	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctaagttgaggccattgaCggcttcccagactgttaaga	11	9	0	4	rs150057913		TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr7:44663986C>T	ENST00000222673.5	+	2	86	c.44C>T	c.(43-45)aCg>aTg	p.T15M	OGDH_ENST00000447398.1_Missense_Mutation_p.T15M|OGDH_ENST00000444676.1_Missense_Mutation_p.T15M|OGDH_ENST00000449767.1_Missense_Mutation_p.T15M|OGDH_ENST00000443864.2_Missense_Mutation_p.T15M|OGDH_ENST00000439616.2_Missense_Mutation_p.T15M|OGDH_ENST00000543843.1_5'Flank	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	15					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	AGGCCATTGACGGCTTCCCAG	0.408													C|||	1	0.000199681	8e-04	0	5008	,	,		18840	0		0	False		,,,				2504	0					ENST00000222673.5																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(43-45)aCg>aTg		oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	NADH(DB00157)	C	MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	151	142	145		44,44,44	4.7	1.0	7	dbSNP_134	145	0,8600		0,0,4300	no	missense,missense,missense	OGDH	NM_001003941.2,NM_001165036.1,NM_002541.3	81,81,81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	15/428,15/1020,15/1024	44663986	1,13005	2203	4300	6503	SO:0001583	missense	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44663986C>T	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.44C>T	7.37:g.44663986C>T	ENSP00000222673:p.Thr15Met					OGDH_ENST00000449767.1_Missense_Mutation_p.T15M|OGDH_ENST00000447398.1_Missense_Mutation_p.T15M|OGDH_ENST00000444676.1_Missense_Mutation_p.T15M|OGDH_ENST00000443864.2_Missense_Mutation_p.T15M|OGDH_ENST00000439616.2_Missense_Mutation_p.T15M	p.T15M	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN			2	86	+			15					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	37	c.44C>T	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127736	0.77549	2.27E-4	0.0	ENSG00000105953	ENST00000439616;ENST00000443864;ENST00000449767;ENST00000447398;ENST00000419661;ENST00000444676;ENST00000222673	T;T;T;T;T;T;T	0.45668	3.27;0.89;0.89;0.89;0.89;0.89;0.89	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.58652	0.2137	L	0.52573	1.65	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;0.998;0.992;0.962	D;P;P;P;B	0.77557	0.99;0.794;0.794;0.628;0.28	T	0.54918	-0.8221	10	0.34782	T	0.22	-22.1129	17.508	0.87752	0.0:1.0:0.0:0.0	.	15;15;15;15;15	E9PFG7;E9PBM1;E9PDF2;Q02218;Q96DD3	.;.;.;ODO1_HUMAN;.	M	15	ENSP00000398576:T15M;ENSP00000388084:T15M;ENSP00000392878:T15M;ENSP00000388183:T15M;ENSP00000411830:T15M;ENSP00000414662:T15M;ENSP00000222673:T15M	ENSP00000222673:T15M	T	+	2	0	OGDH	44630511	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.046000	0.76592	2.462000	0.83206	0.655000	0.94253	ACG		0.408	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			4	224	0	0	0	0.184627	0	4	224					T	44663986	C	T	44663986	3	4	317	1	0	0	0	0	1	0	0	0	10839	536	19	1	46	1	OGDH	7	44663986	Missense_Mutation	SNP	C	TCGA-EM-A3AP-01A-12D-A20C-08		44663986	114474677	10	6701											
PTCD1	26024	broad.mit.edu	37	chr7	99032605	99032607	+	In_Frame_Del	DEL	CTC	CTC	-													tcagagagggtcccaaaactCtcctcctcctcctcgtcttc							TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr7:99032605_99032607delCTC	ENST00000292478.4	-	2	509_511	c.259_261delGAG	c.(259-261)gagdel	p.E87del	PTCD1_ENST00000555673.1_In_Frame_Del_p.E136del|ATP5J2-PTCD1_ENST00000437572.1_5'Flank|PTCD1_ENST00000485746.1_5'UTR|ATP5J2-PTCD1_ENST00000413834.1_In_Frame_Del_p.E136del	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	87					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)	p.E87K(1)		endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TCCCAAAACTCTCCTCCTCCTCC	0.606																																						ENST00000292478.4																			1	Substitution - Missense(1)	p.E87K(1)	lung(1)	endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27						c.(259-261)del		pentatricopeptide repeat domain 1																																				SO:0001651	inframe_deletion	26024							g.chr7:99032605_99032607delCTC	AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.259_261delGAG	7.37:g.99032614_99032616delCTC	ENSP00000292478:p.Glu87del					PTCD1_ENST00000485746.1_5'UTR|PTCD1_ENST00000555673.1_In_Frame_Del_p.E136del|ATP5J2-PTCD1_ENST00000413834.1_In_Frame_Del_p.E136del	p.E87del	NM_015545.3	NP_056360.2			STAD - Stomach adenocarcinoma(171;0.215)		2	509_511	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)							Q3ZB78|Q66K60|Q9UDV2	In_Frame_Del	DEL	ENST00000292478.4	37	c.259_261delGAG	CCDS34691.1																																																																																				0.606	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545		7	241						7	241	---	---	---	---	-	99032607	CTC	-	99032605	7	5	317	1	0	1	0	1	0	0	0	0	12727	912	32	0	1869	0	PTCD1	7	99032605	In_Frame_Del	DEL	CTC	TCGA-EM-A3AP-01A-12D-A20C-08	54368619	99032605	60106058	11	6702											
COL22A1	169044	broad.mit.edu	37	chr8	139890069	139890069	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacacgtggaagacgtgggcGgacttgggctctgaggcgat	18	8	1	2			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr8:139890069G>A	ENST00000303045.6	-	3	1028	c.582C>T	c.(580-582)tcC>tcT	p.S194S	COL22A1_ENST00000435777.1_Silent_p.S194S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	194	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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)			AGACGTGGGCGGACTTGGGCT	0.672										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.(580-582)tcC>tcT		collagen, type XXII, alpha 1							35	36	36					8																	139890069		2203	4300	6503	SO:0001819	synonymous_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139890069G>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.582C>T	8.37:g.139890069G>A		HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Silent_p.S194S	p.S194S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		3	1028	-	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)		194			VWFA.		B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	c.582C>T	CCDS6376.1																																																																																				0.672	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		3	85	0	0	0	0.115264	0	3	85					A	139890069	G	A	139890069	2	1	317	1	0	0	0	0	0	0	0	1	3681	1103	39	1		1	COL22A1	8	139890069	Silent	SNP	G	TCGA-EM-A3AP-01A-12D-A20C-08		139890069	6473953	12	6703											
TDRD1	56165	broad.mit.edu	37	chr10	115978234	115978234	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaaatggacatgttaaagtAcattttgtggattatggaaa	9	4	0	0			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr10:115978234A>G	ENST00000369280.1	+	18	2845	c.2385A>G	c.(2383-2385)gtA>gtG	p.V795V	TDRD1_ENST00000251864.2_Silent_p.V795V|TDRD1_ENST00000369282.1_Silent_p.V795V|TDRD1_ENST00000369281.2_Intron|TDRD1_ENST00000422662.1_Silent_p.V399V			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	795	Tudor 3. {ECO:0000255|PROSITE- ProRule:PRU00211}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		ATGTTAAAGTACATTTTGTGG	0.383																																						ENST00000251864.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48						c.(2383-2385)gtA>gtG		tudor domain containing 1							205	186	192					10																	115978234		2203	4300	6503	SO:0001819	synonymous_variant	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115978234A>G	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"Tudor domain containing"	11712	protein-coding gene	gene with protein product	"cancer/testis antigen 41.1"	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.2385A>G	10.37:g.115978234A>G						TDRD1_ENST00000369282.1_Silent_p.V795V|TDRD1_ENST00000369281.2_Intron|TDRD1_ENST00000369280.1_Silent_p.V795V|TDRD1_ENST00000422662.1_Silent_p.V399V	p.V795V	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	18	2538	+		Colorectal(252;0.172)|Breast(234;0.188)	795			Tudor 3.		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Silent	SNP	ENST00000369280.1	37	c.2385A>G																																																																																					0.383	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			6	199	0	0	0	0.27861	0	6	199					G	115978234	A	G	115978234	2	3	317	1	0	0	0	0	0	0	0	1	15727	378	14	3		3	TDRD1	10	115978234	Silent	SNP	A	TCGA-EM-A3AP-01A-12D-A20C-08		115978234	19556513	13	6704											
MUC2	4583	broad.mit.edu	37	chr11	1094843	1094843	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttatctgctgtgtcctgaaCgacacctactacgcaccagg	8	14	1	1	rs41417150		TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr11:1094843C>T	ENST00000441003.2	+	31	5958	c.5931C>T	c.(5929-5931)aaC>aaT	p.N1977N	MUC2_ENST00000361558.6_Silent_p.N115N|MUC2_ENST00000333592.6_Silent_p.N265N	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4339					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GTGTCCTGAACGACACCTACT	0.617																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(5929-5931)aaC>aaT		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)	C		0,4254		0,0,2127	176	190	185		5916	-0.4	0.2	11	dbSNP_127	185	3,8483		0,3,4240	no	coding-synonymous	MUC2	NM_002457.2		0,3,6367	TT,TC,CC		0.0354,0.0,0.0235		1972/2813	1094843	3,12737	2127	4243	6370	SO:0001819	synonymous_variant	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1094843C>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5931C>T	11.37:g.1094843C>T						MUC2_ENST00000333592.6_Silent_p.N265N|MUC2_ENST00000361558.6_Silent_p.N115N	p.N1977N	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	5958	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	2017					Q14878	Silent	SNP	ENST00000441003.2	37	c.5931C>T																																																																																					0.617	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		6	352	0	0	0	0.248553	0	6	352					T	1094843	C	T	1094843	2	4	317	1	0	0	0	0	0	0	0	1	9975	535	19	1		1	MUC2	11	1094843	Silent	SNP	C	TCGA-EM-A3AP-01A-12D-A20C-08		1094843	133911673	14	6705											
CYB5R2	51700	broad.mit.edu	37	chr11	7687683	7687683	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agggcaatggatgtcgtaccAatgggaggcctgtccagggt	16	8	0	0			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr11:7687683A>C	ENST00000533558.1	-	8	1213	c.657T>G	c.(655-657)atT>atG	p.I219M	CYB5R2_ENST00000528585.1_Intron|CYB5R2_ENST00000524790.1_Splice_Site_p.I219M|CYB5R2_ENST00000299498.6_Splice_Site_p.I219M|CYB5R2_ENST00000299497.9_Splice_Site_p.I219M			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	219					oxidation-reduction process (GO:0055114)|sterol biosynthetic process (GO:0016126)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATGTCGTACCAATGGGAGGCC	0.493											OREG0020724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000533558.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						c.e8+1		cytochrome b5 reductase 2							159	131	140					11																	7687683		2201	4296	6497	SO:0001630	splice_region_variant	51700				sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity	g.chr11:7687683A>C	AF169802	CCDS7780.1	11p15.4	2014-08-12			ENSG00000166394	ENSG00000166394	1.6.2.2		24376	protein-coding gene	gene with protein product		608342				10611283	Standard	XM_005252973		Approved		uc001mfm.3	Q6BCY4	OTTHUMG00000165665	ENST00000533558.1:c.658+1T>G	11.37:g.7687683A>C			OREG0020724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	643	CYB5R2_ENST00000524790.1_Splice_Site_p.I219_splice|CYB5R2_ENST00000299497.9_Splice_Site_p.I219_splice|CYB5R2_ENST00000299498.6_Splice_Site_p.I219_splice|CYB5R2_ENST00000528585.1_Intron	p.I219_splice			Q6BCY4	NB5R2_HUMAN		Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	8	1213	-			219					Q9BVA3|Q9UF68|Q9UHJ0	Splice_Site	SNP	ENST00000533558.1	37	c.658_splice	CCDS7780.1	.	.	.	.	.	.	.	.	.	.	A	8.672	0.903019	0.17760	.	.	ENSG00000166394	ENST00000524790;ENST00000299498;ENST00000533558;ENST00000299497	D;D;D;D	0.94650	-3.48;-2.12;-2.12;-3.48	5.8	2.01	0.26516	Oxidoreductase FAD/NAD(P)-binding (1);	1.916140	0.02613	N	0.102343	D	0.86674	0.5989	N	0.08118	0	0.24401	N	0.994701	B	0.24368	0.102	B	0.19946	0.027	T	0.78033	-0.2362	10	0.72032	D	0.01	-0.1615	1.5636	0.02600	0.4965:0.1502:0.0833:0.27	.	219	Q6BCY4	NB5R2_HUMAN	M	219	ENSP00000435916:I219M;ENSP00000299498:I219M;ENSP00000437041:I219M;ENSP00000299497:I219M	ENSP00000299497:I219M	I	-	3	3	CYB5R2	7644259	0.001000	0.12720	0.523000	0.27875	0.053000	0.15095	-0.132000	0.10467	0.449000	0.26747	0.533000	0.62120	ATT		0.493	CYB5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385679.1	NM_016229	Missense_Mutation	14	77	0	0	0	0.760397	0	14	77					C	7687683	A	C	7687683	5	2	317	1	0	0	0	0	0	0	1	0	4127	144	5	5	181	5	CYB5R2	11	7687683	Splice_Site	SNP	A	TCGA-EM-A3AP-01A-12D-A20C-08	6592840	7687683	127318833	15	6706											
CTNND1	1500	broad.mit.edu	37	chr11	57573460	57573460	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agctcccaatgttgccaacaAtactgggccacatgctgcca	8	14	0	0			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr11:57573460A>C	ENST00000399050.4	+	10	2365	c.1829A>C	c.(1828-1830)aAt>aCt	p.N610T	CTNND1_ENST00000529873.1_Missense_Mutation_p.N556T|CTNND1_ENST00000532787.1_Missense_Mutation_p.N509T|CTNND1_ENST00000529986.1_Missense_Mutation_p.N509T|CTNND1_ENST00000532844.1_Missense_Mutation_p.N556T|CTNND1_ENST00000524630.1_Missense_Mutation_p.N610T|CTNND1_ENST00000532649.1_Missense_Mutation_p.N556T|CTNND1_ENST00000361332.4_Missense_Mutation_p.N610T|CTNND1_ENST00000533667.1_Missense_Mutation_p.N287T|CTNND1_ENST00000530094.1_Missense_Mutation_p.N509T|CTNND1_ENST00000525902.1_Missense_Mutation_p.N287T|CTNND1_ENST00000532245.1_Missense_Mutation_p.N509T|CTNND1_ENST00000527467.1_Missense_Mutation_p.N287T|CTNND1_ENST00000526357.1_Missense_Mutation_p.N556T|CTNND1_ENST00000529526.1_Missense_Mutation_p.N556T|CTNND1_ENST00000361796.4_Missense_Mutation_p.N610T|CTNND1_ENST00000360682.6_Missense_Mutation_p.N610T|CTNND1_ENST00000534579.1_Missense_Mutation_p.N556T|CTNND1_ENST00000531014.1_Missense_Mutation_p.N287T|CTNND1_ENST00000399039.4_Missense_Mutation_p.N610T|CTNND1_ENST00000529919.1_Missense_Mutation_p.N610T|CTNND1_ENST00000526772.1_Missense_Mutation_p.N287T|CTNND1_ENST00000528232.1_Missense_Mutation_p.N509T|CTNND1_ENST00000415361.2_Missense_Mutation_p.N509T|CTNND1_ENST00000426142.2_Missense_Mutation_p.N509T|CTNND1_ENST00000526938.1_Missense_Mutation_p.N610T|CTNND1_ENST00000530748.1_Missense_Mutation_p.N556T|CTNND1_ENST00000361391.6_Missense_Mutation_p.N610T|CTNND1_ENST00000528621.1_Missense_Mutation_p.N556T|CTNND1_ENST00000428599.2_Missense_Mutation_p.N610T|CTNND1_ENST00000358694.6_Missense_Mutation_p.N610T|CTNND1_ENST00000532463.1_Missense_Mutation_p.N509T	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	610					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				GTTGCCAACAATACTGGGCCA	0.498																																						ENST00000524630.1																			0				breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45						c.(1828-1830)aAt>aCt		catenin (cadherin-associated protein), delta 1							90	87	88					11																	57573460		1942	4138	6080	SO:0001583	missense	1500				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	g.chr11:57573460A>C	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"Armadillo repeat containing"	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.1829A>C	11.37:g.57573460A>C	ENSP00000382004:p.Asn610Thr					CTNND1_ENST00000528232.1_Missense_Mutation_p.N509T|CTNND1_ENST00000529873.1_Missense_Mutation_p.N556T|CTNND1_ENST00000360682.6_Missense_Mutation_p.N610T|CTNND1_ENST00000527467.1_Missense_Mutation_p.N287T|CTNND1_ENST00000361332.4_Missense_Mutation_p.N610T|CTNND1_ENST00000529526.1_Missense_Mutation_p.N556T|CTNND1_ENST00000532649.1_Missense_Mutation_p.N556T|CTNND1_ENST00000530748.1_Missense_Mutation_p.N556T|CTNND1_ENST00000529986.1_Missense_Mutation_p.N509T|CTNND1_ENST00000532463.1_Missense_Mutation_p.N509T|CTNND1_ENST00000526938.1_Missense_Mutation_p.N610T|CTNND1_ENST00000533667.1_Missense_Mutation_p.N287T|CTNND1_ENST00000532787.1_Missense_Mutation_p.N509T|CTNND1_ENST00000532245.1_Missense_Mutation_p.N509T|CTNND1_ENST00000531014.1_Missense_Mutation_p.N287T|CTNND1_ENST00000525902.1_Missense_Mutation_p.N287T|CTNND1_ENST00000361796.4_Missense_Mutation_p.N610T|CTNND1_ENST00000361391.6_Missense_Mutation_p.N610T|CTNND1_ENST00000415361.2_Missense_Mutation_p.N509T|CTNND1_ENST00000526772.1_Missense_Mutation_p.N287T|CTNND1_ENST00000399050.4_Missense_Mutation_p.N610T|CTNND1_ENST00000426142.2_Missense_Mutation_p.N509T|CTNND1_ENST00000399039.4_Missense_Mutation_p.N610T|CTNND1_ENST00000358694.6_Missense_Mutation_p.N610T|CTNND1_ENST00000529919.1_Missense_Mutation_p.N610T|CTNND1_ENST00000532844.1_Missense_Mutation_p.N556T|CTNND1_ENST00000428599.2_Missense_Mutation_p.N610T|CTNND1_ENST00000530094.1_Missense_Mutation_p.N509T|CTNND1_ENST00000526357.1_Missense_Mutation_p.N556T|CTNND1_ENST00000528621.1_Missense_Mutation_p.N556T|CTNND1_ENST00000534579.1_Missense_Mutation_p.N556T	p.N610T			O60716	CTND1_HUMAN			10	2342	+		all_epithelial(135;0.155)	610					A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	ENST00000399050.4	37	c.1829A>C	CCDS44604.1	.	.	.	.	.	.	.	.	.	.	A	17.13	3.311886	0.60414	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94	5.91	0.811	0.18739	Armadillo-like helical (1);Armadillo-type fold (1);	0.355141	0.36972	N	0.002306	T	0.68348	0.2991	L	0.31926	0.97	0.29982	N	0.81765	D;D;D;P;P;P;P;P;D	0.56521	0.976;0.976;0.958;0.774;0.667;0.774;0.73;0.774;0.958	P;P;P;B;B;B;B;B;P	0.51615	0.675;0.675;0.475;0.299;0.209;0.299;0.284;0.299;0.475	T	0.66689	-0.5860	10	0.48119	T	0.1	-0.1875	9.5278	0.39175	0.6212:0.0:0.3788:0.0	.	610;610;610;509;556;556;610;610;610	O60716-3;O60716-2;O60716;O60716-18;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.;.	T	610;610;610;610;610;556;509;610;610;610;509;509;610;509;287;556;556;556;610;287;509;287;287;556;287;556;556;509;509;509;556;610	ENSP00000436543:N610T;ENSP00000434808:N610T;ENSP00000381996:N610T;ENSP00000353902:N610T;ENSP00000354907:N610T;ENSP00000436323:N556T;ENSP00000409930:N509T;ENSP00000382004:N610T;ENSP00000354785:N610T;ENSP00000354823:N610T;ENSP00000432075:N509T;ENSP00000437156:N509T;ENSP00000351527:N610T;ENSP00000434949:N509T;ENSP00000437051:N287T;ENSP00000435379:N556T;ENSP00000432243:N556T;ENSP00000436744:N556T;ENSP00000413586:N610T;ENSP00000434900:N287T;ENSP00000435266:N509T;ENSP00000432623:N287T;ENSP00000433158:N287T;ENSP00000435494:N556T;ENSP00000434672:N287T;ENSP00000433276:N556T;ENSP00000433334:N556T;ENSP00000437327:N509T;ENSP00000403518:N509T;ENSP00000434017:N509T;ENSP00000435789:N556T;ENSP00000432041:N610T	ENSP00000351527:N610T	N	+	2	0	CTNND1	57330036	0.098000	0.21812	0.997000	0.53966	0.992000	0.81027	0.494000	0.22467	-0.097000	0.12307	0.533000	0.62120	AAT		0.498	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331		3	29	0	0	0	0.115264	0	3	29					C	57573460	A	C	57573460	3	2	317	1	0	0	0	0	1	0	0	0	4019	101	4	5	1859	5	CTNND1	11	57573460	Missense_Mutation	SNP	A	TCGA-EM-A3AP-01A-12D-A20C-08	49885777	57573460	77433056	16	6707											
CUX2	23316	broad.mit.edu	37	chr12	111758235	111758237	+	In_Frame_Del	DEL	TCC	TCC	-													cctccgtgtcgccctcgctgTcctcctcctcctcctctggc							TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr12:111758235_111758237delTCC	ENST00000261726.6	+	17	2576_2578	c.2422_2424delTCC	c.(2422-2424)tccdel	p.S813del		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	813	Poly-Ser.				cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCCCTCGCTGTCCTCCTCCTCCT	0.749																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(2422-2424)del		cut-like homeobox 2				26,3520		1,24,1748						0.6	1.0			21	65,7379		5,55,3662	no	coding	CUX2	NM_015267.3		6,79,5410	A1A1,A1R,RR		0.8732,0.7332,0.828				91,10899				SO:0001651	inframe_deletion	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111758235_111758237delTCC	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.2422_2424delTCC	12.37:g.111758244_111758246delTCC	ENSP00000261726:p.Ser813del						p.S813del	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			17	2576_2578	+			813			Poly-Ser.		A7E2Y4	In_Frame_Del	DEL	ENST00000261726.6	37	c.2422_2424delTCC	CCDS41837.1																																																																																				0.749	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		10	113						10	113	---	---	---	---	-	111758237	TCC	-	111758235	7	5	317	1	0	1	0	1	0	0	0	0	4065	1667	58	0	2488	0	CUX2	12	111758235	In_Frame_Del	DEL	TCC	TCGA-EM-A3AP-01A-12D-A20C-08		111758235	22093660	17	6708											
COL4A1	1282	broad.mit.edu	37	chr13	110857850	110857850	+	Frame_Shift_Del	DEL	T	T	-													gaaacacttacgggactcccTttttcccctttgtcaccatc							TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr13:110857850delT	ENST00000375820.4	-	16	1015	c.894delA	c.(892-894)aaafs	p.K298fs	COL4A1_ENST00000543140.1_Frame_Shift_Del_p.K298fs	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	298	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CGGGACTCCCTTTTTCCCCTT	0.463																																						ENST00000375820.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(892-894)aafs		collagen, type IV, alpha 1							150	175	166					13																	110857850		2203	4300	6503	SO:0001589	frameshift_variant	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110857850delT	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.894delA	13.37:g.110857850delT	ENSP00000364979:p.Lys298fs					COL4A1_ENST00000543140.1_Frame_Shift_Del_p.K298fs	p.K298fs	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		16	1015	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	298			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Frame_Shift_Del	DEL	ENST00000375820.4	37	c.894delA	CCDS9511.1																																																																																				0.463	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			9	429						9	429	---	---	---	---	-	110857850	T	-	110857850	7	5	317	1	0	1	0	1	0	0	0	0	3689	1606	56	0	4263	0	COL4A1	13	110857850	Frame_Shift_Del	DEL	T	TCGA-EM-A3AP-01A-12D-A20C-08		110857850	4312028	18	6709											
FMN1	342184	broad.mit.edu	37	chr15	33260987	33260987	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgggctcgatggctggttttCgaggacattgactggaagaa	15	6	0	2			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr15:33260987C>A	ENST00000559047.1	-	5	2914	c.2915G>T	c.(2914-2916)cGa>cTa	p.R972L	SNORD77_ENST00000391113.1_RNA|FMN1_ENST00000561249.1_Missense_Mutation_p.R874L|FMN1_ENST00000334528.9_Missense_Mutation_p.R749L			Q68DA7	FMN1_HUMAN	formin 1	972	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.|Pro-rich.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GGCTGGTTTTCGAGGACATTG	0.537																																						ENST00000334528.9																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(2245-2247)cGa>cTa		formin 1							115	111	112					15																	33260987		1829	4085	5914	SO:0001583	missense	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33260987C>A	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"limb deformity protein"	136535	"formin (limb deformity)"	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2915G>T	15.37:g.33260987C>A	ENSP00000454047:p.Arg972Leu					FMN1_ENST00000561249.1_Missense_Mutation_p.R874L|FMN1_ENST00000559047.1_Missense_Mutation_p.R972L	p.R749L	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	4	2245	-		all_lung(180;1.14e-07)	972			Mediates interaction with alpha-catenin (By similarity).		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37	c.2246G>T		.	.	.	.	.	.	.	.	.	.	C	15.79	2.935925	0.52972	.	.	ENSG00000248905	ENST00000334528	T	0.43294	0.95	4.42	3.5	0.40072	.	0.062214	0.64402	D	0.000004	T	0.67268	0.2875	M	0.85041	2.73	.	.	.	D	0.89917	1.0	D	0.85130	0.997	T	0.78748	-0.2083	9	0.87932	D	0	.	14.5984	0.68422	0.0:0.8532:0.1467:0.0	.	749	Q68DA7-5	.	L	749	ENSP00000333950:R749L	ENSP00000333950:R749L	R	-	2	0	FMN1	31048279	1.000000	0.71417	0.994000	0.49952	0.358000	0.29455	5.816000	0.69222	1.080000	0.41073	-0.133000	0.14855	CGA		0.537	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		4	244	1	0	0.184627	0.184627	0.211428	4	244					A	33260987	C	A	33260987	3	1	317	1	0	0	0	0	1	0	0	0	5949	884	31	4	1400	4	FMN1	15	33260987	Missense_Mutation	SNP	C	TCGA-EM-A3AP-01A-12D-A20C-08		33260987	69270405	19	6710											
STUB1	339123	broad.mit.edu	37	chr16	732365	732365	+	3'UTR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccttcttgtcactgcagcGtgtgggtcattttgaccccg	11	13	3	1			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr16:732365G>A	ENST00000293882.4	-	0	1433				LA16c-313D11.9_ENST00000571933.1_RNA|LA16c-313D11.9_ENST00000567091.1_RNA|JMJD8_ENST00000412368.2_3'UTR|STUB1_ENST00000564370.1_Splice_Site_p.R191H|STUB1_ENST00000565677.1_Splice_Site_p.R191H|STUB1_ENST00000219548.4_Splice_Site_p.R263H|JMJD8_ENST00000454700.1_3'UTR|JMJD8_ENST00000609261.1_3'UTR			Q96S16	JMJD8_HUMAN	jumonji domain containing 8							extracellular vesicular exosome (GO:0070062)				breast(1)	1						TCACTGCAGCGTGTGGGTCAT	0.617																																						ENST00000565677.1																			0				endometrium(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	6						c.e7-1		STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase							82	75	77					16																	732365		2201	4300	6501	SO:0001624	3_prime_UTR_variant	10273				cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity	g.chr16:732365G>A		CCDS45369.1	16p13.3	2008-07-28	2008-07-28	2008-07-28		ENSG00000161999			14148	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 20"	C16orf20			Standard	NM_001005920		Approved		uc002ciw.1	Q96S16		ENST00000293882.4:c.*429C>T	16.37:g.732365G>A						LA16c-313D11.10_ENST00000567405.2_RNA|STUB1_ENST00000564370.1_Splice_Site_p.R191_splice|STUB1_ENST00000219548.4_Splice_Site_p.R263_splice|JMJD8_ENST00000293882.4_3'UTR|JMJD8_ENST00000412368.2_3'UTR|JMJD8_ENST00000454700.1_3'UTR	p.R191_splice			Q9UNE7	CHIP_HUMAN			7	1179	+		Hepatocellular(780;0.00335)	263					B2RNS7|D3DU58|Q4PKE3|Q4VBY1|Q6GMW5|Q71RB8	Splice_Site	SNP	ENST00000293882.4	37	c.570_splice		.	.	.	.	.	.	.	.	.	.	G	16.24	3.066264	0.55539	.	.	ENSG00000103266	ENST00000219548	T	0.15952	2.38	5.18	4.22	0.49857	Zinc finger, RING/FYVE/PHD-type (1);U box domain (2);	0.068719	0.64402	D	0.000009	T	0.34745	0.0908	L	0.52823	1.66	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.02837	-1.1104	10	0.41790	T	0.15	-10.62	12.7883	0.57518	0.0793:0.0:0.9207:0.0	.	263	Q9UNE7	CHIP_HUMAN	H	263	ENSP00000219548:R263H	ENSP00000219548:R263H	R	+	2	0	STUB1	672366	1.000000	0.71417	0.992000	0.48379	0.051000	0.14879	9.780000	0.99024	1.179000	0.42884	0.561000	0.74099	CGT		0.617	JMJD8-201	KNOWN	basic	protein_coding	protein_coding		NM_001005920		5	156	0	0	0	0.307466	0	5	156					A	732365	G	A	732365	1	1	317	0	1	0	0	0	0	0	0	0	15334	1159	40	1		1	STUB1	16	732365	3'UTR	SNP	G	TCGA-EM-A3AP-01A-12D-A20C-08		732365	89622388	20	6711											
PDPR	55066	broad.mit.edu	37	chr16	70187304	70187304	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttcctatagtacgccctgcAtgtatacaatgaagtgatga	8	9	0	3			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr16:70187304A>T	ENST00000288050.4	+	18	3020	c.2063A>T	c.(2062-2064)cAt>cTt	p.H688L	PDPR_ENST00000542659.1_Missense_Mutation_p.H33L|PDPR_ENST00000568530.1_Missense_Mutation_p.H688L|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000567046.1_Missense_Mutation_p.H46L|PDPR_ENST00000562100.1_Intron|PDPR_ENST00000398122.3_Missense_Mutation_p.H588L	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	688					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		TACGCCCTGCATGTATACAAT	0.448																																						ENST00000288050.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33						c.(2062-2064)cAt>cTt		pyruvate dehydrogenase phosphatase regulatory subunit							110	109	109					16																	70187304		1983	4175	6158	SO:0001583	missense	55066				glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	g.chr16:70187304A>T		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.2063A>T	16.37:g.70187304A>T	ENSP00000288050:p.His688Leu					PDPR_ENST00000567046.1_Missense_Mutation_p.H46L|PDPR_ENST00000398122.3_Missense_Mutation_p.H588L|PDPR_ENST00000568530.1_Missense_Mutation_p.H688L|PDPR_ENST00000542659.1_Missense_Mutation_p.H33L|PDPR_ENST00000562100.1_Intron	p.H688L	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	18	3020	+			688					A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	ENST00000288050.4	37	c.2063A>T	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	A	29.7	5.024459	0.93518	.	.	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000542659	T;T;T	0.75589	-0.95;-0.95;-0.95	5.74	5.74	0.90152	Glycine cleavage T-protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86644	0.5982	M	0.84948	2.725	0.80722	D	1	D	0.63046	0.992	D	0.67900	0.954	D	0.87305	0.2308	10	0.45353	T	0.12	.	15.511	0.75782	1.0:0.0:0.0:0.0	.	688	Q8NCN5	PDPR_HUMAN	L	688;588;33	ENSP00000288050:H688L;ENSP00000381190:H588L;ENSP00000441690:H33L	ENSP00000288050:H688L	H	+	2	0	PDPR	68744805	1.000000	0.71417	0.964000	0.40570	0.955000	0.61496	9.255000	0.95524	2.317000	0.78254	0.459000	0.35465	CAT		0.448	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		10	47	0	0	0	0.361761	0	10	47					T	70187304	A	T	70187304	3	4	317	1	0	0	0	0	1	0	0	0	11689	217	8	5	2125	5	PDPR	16	70187304	Missense_Mutation	SNP	A	TCGA-EM-A3AP-01A-12D-A20C-08	69454939	70187304	20167449	21	6712											
CDH13	1012	broad.mit.edu	37	chr16	83520201	83520201	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catctcccaacatgttctacAtcgatcctgagaaaggagac	7	12	2	2			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr16:83520201A>G	ENST00000566620.1	+	7	1191	c.901A>G	c.(901-903)Atc>Gtc	p.I301V	CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000428848.3_Missense_Mutation_p.I262V|CDH13_ENST00000268613.10_Missense_Mutation_p.I348V	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	301	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CATGTTCTACATCGATCCTGA	0.493																																						ENST00000566620.1																			0				large_intestine(1)	1						c.(901-903)Atc>Gtc		cadherin 13							98	96	97					16																	83520201		2061	4219	6280	SO:0001583	missense	1012				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	g.chr16:83520201A>G	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"Cadherins / Major cadherins"	1753	protein-coding gene	gene with protein product	"T-cadherin", "H-cadherin (heart)"	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.901A>G	16.37:g.83520201A>G	ENSP00000454435:p.Ile301Val					CDH13_ENST00000268613.10_Missense_Mutation_p.I348V|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000428848.3_Missense_Mutation_p.I262V	p.I301V	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	7	1191	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	301			Cadherin 2.		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	ENST00000566620.1	37	c.901A>G	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.535009	0.85812	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143	T	0.66638	-0.22	5.79	5.79	0.91817	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.78792	0.4339	M	0.66297	2.02	0.80722	D	1	D;P;D	0.57571	0.965;0.492;0.98	D;P;D	0.74348	0.957;0.897;0.983	T	0.75300	-0.3366	9	0.21014	T	0.42	.	15.3166	0.74085	1.0:0.0:0.0:0.0	.	262;348;301	B7Z590;B7Z9B1;P55290	.;.;CAD13_HUMAN	V	348;301;262	ENSP00000268613:I348V	ENSP00000268613:I348V	I	+	1	0	CDH13	82077702	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.565000	0.90730	2.207000	0.71202	0.533000	0.62120	ATC		0.493	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		4	135	0	0	0	0.184627	0	4	135					G	83520201	A	G	83520201	3	3	317	1	0	0	0	0	1	0	0	0	3099	217	8	3	927	3	CDH13	16	83520201	Missense_Mutation	SNP	A	TCGA-EM-A3AP-01A-12D-A20C-08	13332897	83520201	6834552	22	6713											
POTEC	388468	broad.mit.edu	37	chr18	14542798	14542798	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtctccccaagcgcccacGttgctcttgccgctccccct	7	20	2	0	rs368540688		TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr18:14542798G>A	ENST00000358970.5	-	1	347	c.348C>T	c.(346-348)aaC>aaT	p.N116N	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	116								p.N116N(1)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGCGCCCACGTTGCTCTTGC	0.602																																						ENST00000358970.5																			1	Substitution - coding silent(1)	p.N116N(1)	kidney(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(346-348)aaC>aaT		POTE ankyrin domain family, member C							50	57	55					18																	14542798		692	1590	2282	SO:0001819	synonymous_variant	388468							g.chr18:14542798G>A	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33894	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 6"		"ANKRD26-like family B, member 2"	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.348C>T	18.37:g.14542798G>A						POTEC_ENST00000389891.4_5'UTR	p.N116N	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			1	347	-			116						Silent	SNP	ENST00000358970.5	37	c.348C>T	CCDS45835.1																																																																																				0.602	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		4	181	0	0	0	0.335167	0	4	181					A	14542798	G	A	14542798	2	1	317	1	0	0	0	0	0	0	0	1	12262	1136	40	1		1	POTEC	18	14542798	Silent	SNP	G	TCGA-EM-A3AP-01A-12D-A20C-08		14542798	63534450	23	6714											
EBI3	10148	broad.mit.edu	37	chr19	4234672	4234672	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cttgtccgtcagtcaagcccGaccctccagaaggcgtgcgc	11	16	2	1			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr19:4234672G>T	ENST00000221847.5	+	4	441	c.388G>T	c.(388-390)Gac>Tac	p.D130Y		NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN	Epstein-Barr virus induced 3	130	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|humoral immune response (GO:0006959)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|T-helper 1 type immune response (GO:0042088)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTCAAGCCCGACCCTCCAGA	0.547																																						ENST00000221847.5																			0				large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(388-390)Gac>Tac		Epstein-Barr virus induced 3							85	95	91					19																	4234672		2203	4300	6503	SO:0001583	missense	10148				humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process|T-helper 1 type immune response	extracellular space|plasma membrane	cytokine activity|cytokine receptor activity	g.chr19:4234672G>T	L08187	CCDS12123.1	19p13	2013-02-11	2008-09-12		ENSG00000105246	ENSG00000105246		"Fibronectin type III domain containing"	3129	protein-coding gene	gene with protein product	"IL27 subunit", "IL35 subunit"	605816				8551575	Standard	NM_005755		Approved		uc002lzu.3	Q14213		ENST00000221847.5:c.388G>T	19.37:g.4234672G>T	ENSP00000221847:p.Asp130Tyr						p.D130Y	NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)	4	441	+		Hepatocellular(1079;0.137)	130			Fibronectin type-III 2.		A0N0N2|O75269	Missense_Mutation	SNP	ENST00000221847.5	37	c.388G>T	CCDS12123.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.080001	0.55753	.	.	ENSG00000105246	ENST00000221847	T	0.58940	0.3	4.17	4.17	0.49024	Long hematopoietin receptor, soluble alpha chain, conserved site (1);Fibronectin, type III (5);Immunoglobulin-like fold (1);	0.116139	0.56097	D	0.000031	T	0.74779	0.3761	M	0.81802	2.56	0.46044	D	0.998831	D	0.89917	1.0	D	0.79108	0.992	T	0.78607	-0.2138	10	0.87932	D	0	-27.3491	11.9055	0.52708	0.0:0.0:1.0:0.0	.	130	Q14213	IL27B_HUMAN	Y	130	ENSP00000221847:D130Y	ENSP00000221847:D130Y	D	+	1	0	EBI3	4185672	0.998000	0.40836	0.935000	0.37517	0.634000	0.38068	3.379000	0.52440	2.178000	0.69098	0.555000	0.69702	GAC		0.547	EBI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458005.1			8	274	1	0	0.000673444	0.361761	0.000796909	8	274					T	4234672	G	T	4234672	3	4	317	1	0	0	0	0	1	0	0	0	4883	1058	37	4	402	4	EBI3	19	4234672	Missense_Mutation	SNP	G	TCGA-EM-A3AP-01A-12D-A20C-08		4234672	54894311	24	6715											
MUC16	94025	broad.mit.edu	37	chr19	9090831	9090831	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttagtgtcatggaaaaAgggatagctgagttgggcat	14	4	1	1			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(982-984)ccT>ccC		mucin 16, cell surface associated							96	95	96					19																	9090831		2041	4195	6236	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090831A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.984T>C	19.37:g.9090831A>G							p.P328P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	1187	-			328			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.984T>C	CCDS54212.1																																																																																				0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		3	98	0	0	0	0.115264	0	3	98					G	9090831	A	G	9090831	2	3	317	1	0	0	0	0	0	0	0	1	9973	59	3	3		3	MUC16	19	9090831	Silent	SNP	A	TCGA-EM-A3AP-01A-12D-A20C-08	4856159	9090831	50038152	25	6716											
NUDT19	390916	broad.mit.edu	37	chr19	33200189	33200190	+	Frame_Shift_Del	DEL	CT	CT	-													agaagacttgcaaactttgcCtctctctctgacttgcacaa							TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr19:33200189_33200190delCT	ENST00000397061.3	+	2	813_814	c.813_814delCT	c.(811-816)gcctctfs	p.S272fs		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	272						mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					CAAACTTTGCCTCTCTCTCTGA	0.45																																						ENST00000397061.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(811-816)gcctfs		nudix (nucleoside diphosphate linked moiety X)-type motif 19																																				SO:0001589	frameshift_variant	390916					mitochondrion|peroxisome	hydrolase activity|metal ion binding	g.chr19:33200189_33200190delCT		CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"Nudix motif containing"	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.813_814delCT	19.37:g.33200197_33200198delCT	ENSP00000380251:p.Ser272fs						p.AS271fs	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN			2	813_814	+	Esophageal squamous(110;0.137)		271						Frame_Shift_Del	DEL	ENST00000397061.3	37	c.813_814delCT	CCDS42543.1																																																																																				0.45	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450338.3	XM_372723		7	328						7	328	---	---	---	---	-	33200190	CT	-	33200189	7	5	317	1	0	1	0	1	0	0	0	0	10736	668	24	0	819	0	NUDT19	19	33200189	Frame_Shift_Del	DEL	CT	TCGA-EM-A3AP-01A-12D-A20C-08	24109358	33200189	25928794	26	6717											
RTN2	6253	broad.mit.edu	37	chr19	45996575	45996575	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaggtggggacaattccaaAattggaaccgtcttgtaaac	11	7	1	1			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr19:45996575A>C	ENST00000245923.4	-	5	1111	c.876T>G	c.(874-876)atT>atG	p.I292M	RTN2_ENST00000590526.1_Missense_Mutation_p.I18M|RTN2_ENST00000344680.4_Intron|RTN2_ENST00000430715.2_5'Flank|RTN2_ENST00000589384.1_5'Flank|PPM1N_ENST00000401705.1_Intron	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	292					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		ACAATTCCAAAATTGGAACCG	0.502																																						ENST00000590526.1																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20						c.(52-54)atT>atG		reticulon 2							53	56	55					19																	45996575		2203	4300	6503	SO:0001583	missense	6253					integral to endoplasmic reticulum membrane	signal transducer activity	g.chr19:45996575A>C	AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"NSP-like protein 1", "Neuroendocrine-specific protein-like 1"	603183	"spastic paraplegia 12 (autosomal dominant)"	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.876T>G	19.37:g.45996575A>C	ENSP00000245923:p.Ile292Met					RTN2_ENST00000245923.4_Missense_Mutation_p.I292M|RTN2_ENST00000344680.4_Intron|PPM1N_ENST00000401705.1_Intron	p.I18M			O75298	RTN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)	5	1180	-		Ovarian(192;0.051)|all_neural(266;0.112)	292					O60509|Q7RTM6|Q7RTN1|Q7RTN2	Missense_Mutation	SNP	ENST00000245923.4	37	c.54T>G	CCDS12665.1	.	.	.	.	.	.	.	.	.	.	A	9.795	1.178987	0.21787	.	.	ENSG00000125744	ENST00000245923	T	0.49139	0.79	4.42	2.35	0.29111	.	1.301390	0.05745	N	0.602129	T	0.28863	0.0716	N	0.08118	0	0.18873	N	0.999985	B	0.22003	0.063	B	0.21917	0.037	T	0.26326	-1.0106	10	0.48119	T	0.1	2.3463	5.7463	0.18122	0.7888:0.0:0.2112:0.0	.	292	O75298	RTN2_HUMAN	M	292	ENSP00000245923:I292M	ENSP00000245923:I292M	I	-	3	3	RTN2	50688415	0.184000	0.23200	0.007000	0.13788	0.889000	0.51656	1.970000	0.40520	0.482000	0.27582	0.383000	0.25322	ATT		0.502	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	NM_005619		3	155	0	0	0	0.115264	0	3	155					C	45996575	A	C	45996575	3	2	317	1	0	0	0	0	1	0	0	0	13726	10	1	5	789	5	RTN2	19	45996575	Missense_Mutation	SNP	A	TCGA-EM-A3AP-01A-12D-A20C-08	12796386	45996575	13132408	27	6718											
COL20A1	57642	broad.mit.edu	37	chr20	61956821	61956821	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggggtcaaaggagagaaggGagaccatgggcttccaggct	17	7	1	2			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr20:61956821G>A	ENST00000358894.6	+	28	3423	c.3323G>A	c.(3322-3324)gGa>gAa	p.G1108E	COL20A1_ENST00000422202.1_Missense_Mutation_p.G1115E|COL20A1_ENST00000326996.6_Missense_Mutation_p.G1140E|COL20A1_ENST00000435874.1_Missense_Mutation_p.G1115E	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1108	Collagen-like 1.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GGAGAGAAGGGAGACCATGGG	0.667																																						ENST00000422202.1																			0				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36						c.(3343-3345)gGa>gAa		collagen, type XX, alpha 1							49	57	54					20																	61956821		1890	4120	6010	SO:0001583	missense	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61956821G>A	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"Collagens", "Fibronectin type III domain containing"	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.3323G>A	20.37:g.61956821G>A	ENSP00000351767:p.Gly1108Glu					COL20A1_ENST00000435874.1_Missense_Mutation_p.G1115E|COL20A1_ENST00000358894.6_Missense_Mutation_p.G1108E|COL20A1_ENST00000326996.6_Missense_Mutation_p.G1140E	p.G1115E			Q9P218	COKA1_HUMAN			27	3412	+	all_cancers(38;1.39e-10)		1108			Collagen-like 1.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	c.3344G>A	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.375536	0.42105	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202;ENST00000415763;ENST00000455906	D;D;D;D;D;D	0.99619	-6.28;-6.0;-6.28;-6.28;-6.28;-5.77	3.66	3.66	0.41972	.	0.000000	0.85682	U	0.000000	D	0.99743	0.9898	H	0.97783	4.075	0.47407	D	0.999418	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97427	1.0013	10	0.87932	D	0	.	10.8729	0.46894	0.0:0.0:1.0:0.0	.	1115;1108	Q9P218-2;Q9P218	.;COKA1_HUMAN	E	1108;1140;1115;1115;243;98	ENSP00000351767:G1108E;ENSP00000323077:G1140E;ENSP00000408690:G1115E;ENSP00000414753:G1115E;ENSP00000410799:G243E;ENSP00000406345:G98E	ENSP00000323077:G1140E	G	+	2	0	COL20A1	61427266	0.992000	0.36948	1.000000	0.80357	0.306000	0.27790	2.736000	0.47385	1.608000	0.50180	0.467000	0.42956	GGA		0.667	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		5	122	0	0	0	0.217242	0	5	122					A	61956821	G	A	61956821	3	1	317	1	0	0	0	0	1	0	0	0	3679	1174	41	2	3429	2	COL20A1	20	61956821	Missense_Mutation	SNP	G	TCGA-EM-A3AP-01A-12D-A20C-08		61956821	1068699	28	6719											
DGCR8	54487	broad.mit.edu	37	chr22	20079439	20079439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgaggtctgcatcctgcacGagtacatgcagcgtgtcctc	11	14	1	0			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr22:20079439G>A	ENST00000351989.3	+	7	1981	c.1552G>A	c.(1552-1554)Gag>Aag	p.E518K	DGCR8_ENST00000407755.1_Missense_Mutation_p.E518K|DGCR8_ENST00000383024.2_Missense_Mutation_p.E518K	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	518	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					CATCCTGCACGAGTACATGCA	0.463																																						ENST00000351989.3																			0				NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1552-1554)Gag>Aag		DGCR8 microprocessor complex subunit							128	114	119					22																	20079439		2203	4300	6503	SO:0001583	missense	54487				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20079439G>A	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"chromosome 22 open reading frame 12", "DiGeorge syndrome critical region gene 8"	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.1552G>A	22.37:g.20079439G>A	ENSP00000263209:p.Glu518Lys					DGCR8_ENST00000383024.2_Missense_Mutation_p.E518K|DGCR8_ENST00000407755.1_Missense_Mutation_p.E518K	p.E518K	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN			7	1981	+	Colorectal(54;0.0993)		518			DRBM 1.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	c.1552G>A	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	G	35	5.425213	0.96131	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	D;T;T	0.82344	-1.6;-0.79;-0.79	5.1	4.05	0.47172	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.91123	0.7205	M	0.85099	2.735	0.80722	D	1	B;D	0.89917	0.189;1.0	B;D	0.91635	0.046;0.999	D	0.92124	0.5706	10	0.87932	D	0	-23.0849	13.8046	0.63223	0.0768:0.0:0.9232:0.0	.	518;518	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	K	518	ENSP00000263209:E518K;ENSP00000372488:E518K;ENSP00000384726:E518K	ENSP00000263209:E518K	E	+	1	0	DGCR8	18459439	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.642000	0.83385	2.634000	0.89283	0.591000	0.81541	GAG		0.463	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			32	31	0	0	0	0.847076	0	32	31					A	20079439	G	A	20079439	3	1	317	1	0	0	0	0	1	0	0	0	4464	1059	37	1	1574	1	DGCR8	22	20079439	Missense_Mutation	SNP	G	TCGA-EM-A3AP-01A-12D-A20C-08		20079439	31225127	29	6720											
STS	412	broad.mit.edu	37	chrX	7177465	7177465	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttacatcacggcttcaattAtttctatgggatctctttga	6	8	4	1			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chrX:7177465A>G	ENST00000217961.4	+	5	693	c.473A>G	c.(472-474)tAt>tGt	p.Y158C		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	158					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	GGCTTCAATTATTTCTATGGG	0.522									Ichthyosis																													ENST00000217961.4																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27						c.(472-474)tAt>tGt		steroid sulfatase (microsomal), isozyme S	Estrone(DB00655)						125	104	111					X																	7177465		2203	4299	6502	SO:0001583	missense	412	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity	g.chrX:7177465A>G	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"Arylsulfatase family"	11425	protein-coding gene	gene with protein product	"arylsulfatase C"	300747	"steroid sulfatase (microsomal), arylsulfatase C, isozyme S"	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.473A>G	X.37:g.7177465A>G	ENSP00000217961:p.Tyr158Cys						p.Y158C	NM_000351.4	NP_000342.2	P08842	STS_HUMAN			5	693	+		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	158					B2RA47	Missense_Mutation	SNP	ENST00000217961.4	37	c.473A>G	CCDS14127.1	.	.	.	.	.	.	.	.	.	.	A	10.78	1.447726	0.26074	.	.	ENSG00000101846	ENST00000217961	D	0.98732	-5.1	3.83	3.83	0.44106	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.420420	0.26478	N	0.024160	D	0.99342	0.9769	H	0.96604	3.85	0.45490	D	0.998455	D	0.89917	1.0	D	0.81914	0.995	D	0.98839	1.0754	10	0.72032	D	0.01	.	10.9776	0.47475	1.0:0.0:0.0:0.0	.	158	P08842	STS_HUMAN	C	158	ENSP00000217961:Y158C	ENSP00000217961:Y158C	Y	+	2	0	STS	7187465	1.000000	0.71417	0.003000	0.11579	0.003000	0.03518	6.208000	0.72165	1.242000	0.43836	0.486000	0.48141	TAT		0.522	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055686.1	NM_000351		3	138	0	0	0	0.150653	0	3	138					G	7177465	A	G	7177465	3	3	317	1	0	0	0	0	1	0	0	0	15331	449	16	3	491	3	STS	23	7177465	Missense_Mutation	SNP	A	TCGA-EM-A3AP-01A-12D-A20C-08		7177465	148093095	30	6721											
CNKSR2	22866	broad.mit.edu	37	chrX	21627678	21627680	+	In_Frame_Del	DEL	GAG	GAG	-													aacccccagaggtggaggaaGaggaggaggaggaggaggag							TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chrX:21627678_21627680delGAG	ENST00000379510.3	+	20	2671_2673	c.2635_2637delGAG	c.(2635-2637)gagdel	p.E886del	CNKSR2_ENST00000425654.2_In_Frame_Del_p.E856del|CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	886	Poly-Glu.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ggtggaggaagaggaggaggagg	0.517																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(2545-2547)del		connector enhancer of kinase suppressor of Ras 2																																				SO:0001651	inframe_deletion	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21627678_21627680delGAG	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2635_2637delGAG	X.37:g.21627687_21627689delGAG	ENSP00000368824:p.Glu886del					CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del	p.E856del	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			19	3025_3027	+			886					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	In_Frame_Del	DEL	ENST00000379510.3	37	c.2545_2547delGAG	CCDS14198.1																																																																																				0.517	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		7	86						7	86	---	---	---	---	-	21627680	GAG	-	21627678	7	5	317	1	0	1	0	1	0	0	0	0	3607	943	33	0	2713	0	CNKSR2	23	21627678	In_Frame_Del	DEL	GAG	TCGA-EM-A3AP-01A-12D-A20C-08	14450213	21627678	133642882	31	6722											
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-													ctggttgggtttgcacttcaTcctcgaggcagcctcctcga					rs78182391		TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			8	29						8	29	---	---	---	---	-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	317	1	0	1	0	1	0	0	0	0	10727	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-EM-A3AP-01A-12D-A20C-08	29611618	51239296	104031264	32	6723											
AMOT	154796	broad.mit.edu	37	chrX	112058796	112058796	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgtggctgctgctgctgCtgttgttggtggtgatggtg	18	6	0	1			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chrX:112058796C>T	ENST00000524145.1	-	3	1256	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	AMOT_ENST00000371959.3_Silent_p.Q394Q|AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371958.1_Silent_p.Q162Q			Q4VCS5	AMOT_HUMAN	angiomotin	394					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)	p.Q394Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						gctgctgctgctgttgttggt	0.582																																						ENST00000371959.3																			1	Substitution - coding silent(1)	p.Q394Q(1)	lung(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1180-1182)caG>caA		angiomotin							38	34	36					X																	112058796		2203	4300	6503	SO:0001819	synonymous_variant	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112058796C>T	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1182G>A	X.37:g.112058796C>T						AMOT_ENST00000524145.1_Silent_p.Q394Q|AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000371958.1_Silent_p.Q162Q	p.Q394Q	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			2	1181	-			394					Q504X5|Q9HD27|Q9UPT1	Silent	SNP	ENST00000524145.1	37	c.1182G>A	CCDS48154.1																																																																																				0.582	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		3	33	0	0	0	0.115264	0	3	33					T	112058796	C	T	112058796	2	4	317	1	0	0	0	0	0	0	0	1	582	796	28	2		2	AMOT	23	112058796	Silent	SNP	C	TCGA-EM-A3AP-01A-12D-A20C-08	60819500	112058796	43211764	33	6724											
ZIC3	7547	broad.mit.edu	37	chrX	136649433	136649433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgtggggagctgttcggcCgtgctgacccataccgccca	14	14	0	1			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chrX:136649433C>T	ENST00000287538.5	+	1	1133	c.583C>T	c.(583-585)Cgt>Tgt	p.R195C	ZIC3_ENST00000370606.3_Missense_Mutation_p.R195C|RP1-137H15.2_ENST00000442841.1_RNA	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	195					anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|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)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					GCTGTTCGGCCGTGCTGACCC	0.672																																						ENST00000287538.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37						c.(583-585)Cgt>Tgt		Zic family member 3							25	27	26					X																	136649433		2183	4239	6422	SO:0001583	missense	7547				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:136649433C>T	AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"Zinc fingers, C2H2-type"	12874	protein-coding gene	gene with protein product		300265	"heterotaxy 1", "Zic family member 3 (odd-paired homolog, Drosophila)"	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.583C>T	X.37:g.136649433C>T	ENSP00000287538:p.Arg195Cys					ZIC3_ENST00000370606.3_Missense_Mutation_p.R195C	p.R195C	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN			1	1133	+	Acute lymphoblastic leukemia(192;0.000127)		195					B2CNW4|Q14DE5|Q5JY75	Missense_Mutation	SNP	ENST00000287538.5	37	c.583C>T	CCDS14663.1	.	.	.	.	.	.	.	.	.	.	c	19.08	3.757102	0.69648	.	.	ENSG00000156925	ENST00000287538;ENST00000370606	T;T	0.60548	0.18;0.18	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.75228	0.3821	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.78553	-0.2160	10	0.62326	D	0.03	.	15.2367	0.73436	0.0:1.0:0.0:0.0	.	195	O60481	ZIC3_HUMAN	C	195	ENSP00000287538:R195C;ENSP00000359638:R195C	ENSP00000287538:R195C	R	+	1	0	ZIC3	136477099	0.992000	0.36948	0.988000	0.46212	0.990000	0.78478	3.104000	0.50306	2.155000	0.67459	0.597000	0.82753	CGT		0.672	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			4	112	0	0	0	0.217242	0	4	112					T	136649433	C	T	136649433	3	4	317	1	0	0	0	0	1	0	0	0	17677	652	23	1	585	1	ZIC3	23	136649433	Missense_Mutation	SNP	C	TCGA-EM-A3AP-01A-12D-A20C-08	24590637	136649433	18621127	34	6725											
CD99L2	83692	broad.mit.edu	37	chrX	149984524	149984526	+	In_Frame_Del	DEL	GTG	GTG	-													tggttcctggcctattggttGtggtggtggtggtgtggtcc							TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chrX:149984524_149984526delGTG	ENST00000370377.3	-	3	273_275	c.156_158delCAC	c.(154-159)accaca>aca	p.52_53TT>T	CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000437787.2_In_Frame_Del_p.52_53TT>T|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000346693.4_5'UTR	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	52	Poly-Thr.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATTGGTTGTGGTGGTGGTGG	0.552																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(154-159)aca>ac		CD99 molecule-like 2																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149984524_149984526delGTG	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"MIC2 like 1", "CD99 antigen-like 2"	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.156_158delCAC	X.37:g.149984533_149984535delGTG	ENSP00000359403:p.Thr54del					CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del|CD99L2_ENST00000346693.4_5'UTR	p.TT52del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			3	273_275	-	Acute lymphoblastic leukemia(192;6.56e-05)		52			Poly-Thr.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.156_158delCAC	CCDS35427.1																																																																																				0.552	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		12	544						12	544	---	---	---	---	-	149984526	GTG	-	149984524	7	5	317	1	0	1	0	1	0	0	0	0	3051	1377	48	0	666	0	CD99L2	23	149984524	In_Frame_Del	DEL	GTG	TCGA-EM-A3AP-01A-12D-A20C-08	13335091	149984524	5286036	35	6726											
DTL	51514	broad.mit.edu	37	chr1	212220678	212220678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacagccaaattttgggacGtaaaagctggtgagctgatt	11	6	0	2			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr1:212220678G>A	ENST00000366991.4	+	5	693	c.379G>A	c.(379-381)Gta>Ata	p.V127I	DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Missense_Mutation_p.V85I	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	127					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|chromosome (GO:0005694)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		ATTTTGGGACGTAAAAGCTGG	0.388																																						ENST00000366991.4																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(379-381)Gta>Ata		denticleless E3 ubiquitin protein ligase homolog (Drosophila)							210	204	206					1																	212220678		2203	4300	6503	SO:0001583	missense	51514				DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding	g.chr1:212220678G>A	AF195765	CCDS1502.1, CCDS65778.1	1q32	2013-01-10	2012-02-23		ENSG00000143476	ENSG00000143476		"DDB1 and CUL4 associated factors", "WD repeat domain containing"	30288	protein-coding gene	gene with protein product	"RA regulated nuclear matrix associated protein", "DDB1 and CUL4 associated factor 2"	610617	"denticleless homolog (Drosophila)"			11278750	Standard	NM_001286229		Approved	RAMP, L2DTL, DCAF2	uc009xdc.3	Q9NZJ0	OTTHUMG00000037133	ENST00000366991.4:c.379G>A	1.37:g.212220678G>A	ENSP00000355958:p.Val127Ile					DTL_ENST00000542077.1_Missense_Mutation_p.V85I|DTL_ENST00000475419.1_3'UTR	p.V127I	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)	5	693	+			127					A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	Missense_Mutation	SNP	ENST00000366991.4	37	c.379G>A	CCDS1502.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947507	0.73672	.	.	ENSG00000143476	ENST00000366991;ENST00000542077	T;T	0.19105	2.17;2.17	5.18	4.28	0.50868	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.26882	0.0658	N	0.25426	0.745	0.80722	D	1	D;D	0.67145	0.996;0.989	P;P	0.56514	0.8;0.636	T	0.02244	-1.1189	10	0.44086	T	0.13	-16.7073	14.264	0.66104	0.0722:0.0:0.9278:0.0	.	85;127	F5GZ90;Q9NZJ0	.;DTL_HUMAN	I	127;85	ENSP00000355958:V127I;ENSP00000443870:V85I	ENSP00000355958:V127I	V	+	1	0	DTL	210287301	1.000000	0.71417	0.719000	0.30619	0.586000	0.36452	7.058000	0.76676	1.342000	0.45619	-0.119000	0.15052	GTA		0.388	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090182.1	NM_016448		5	192	0	0	0	1	0	5	192					A	212220678	G	A	212220678	3	1	318	1	0	0	0	0	1	0	0	0	4787	1145	40	1	397	1	DTL	1	212220678	Missense_Mutation	SNP	G	TCGA-EM-A3AQ-01A-11D-A20C-08		212220678	37029943	1	6727											
ATP6V1C2	245973	broad.mit.edu	37	chr2	10917833	10917833	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accgacagagagagagagagTgagggcgagggtgaggtaag	20	4	0	5			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr2:10917833T>A	ENST00000272238.4	+	11	1057	c.948T>A	c.(946-948)agT>agA	p.S316R	ATP6V1C2_ENST00000381661.3_Intron	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	316					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)	p.S316fs*14(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		AGAGAGAGAGTGAGGGCGAGG	0.602																																					NSCLC(188;1042 2136 10807 16813 47705)	ENST00000272238.4																			1	Deletion - Frameshift(1)	p.S316fs*14(1)	skin(1)	endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(946-948)agT>agA		ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2							68	68	68					2																	10917833		1884	4108	5992	SO:0001583	missense	245973				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		g.chr2:10917833T>A	AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"ATPases / V-type"	18264	protein-coding gene	gene with protein product			"ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2", "ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.948T>A	2.37:g.10917833T>A	ENSP00000272238:p.Ser316Arg					ATP6V1C2_ENST00000381661.3_Intron	p.S316R	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN		Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)	11	1057	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		316					Q96EL8	Missense_Mutation	SNP	ENST00000272238.4	37	c.948T>A	CCDS42653.1	.	.	.	.	.	.	.	.	.	.	T	15.43	2.830360	0.50845	.	.	ENSG00000143882	ENST00000272238	T	0.43688	0.94	5.54	4.39	0.52855	.	0.160511	0.28766	U	0.014209	T	0.35941	0.0949	L	0.51422	1.61	0.80722	D	1	B	0.28470	0.213	B	0.28465	0.09	T	0.19484	-1.0304	10	0.59425	D	0.04	-14.3505	8.0649	0.30654	0.0:0.0918:0.0:0.9082	.	316	Q8NEY4	VATC2_HUMAN	R	316	ENSP00000272238:S316R	ENSP00000272238:S316R	S	+	3	2	ATP6V1C2	10835284	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.426000	0.34870	0.928000	0.37168	0.482000	0.46254	AGT		0.602	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	NM_144583		4	140	0	0	0	1	0	4	140					A	10917833	T	A	10917833	3	1	318	1	0	0	0	0	1	0	0	0	1181	1693	59	5	986	5	ATP6V1C2	2	10917833	Missense_Mutation	SNP	T	TCGA-EM-A3AQ-01A-11D-A20C-08		10917833	232281540	2	6728											
STT3B	201595	broad.mit.edu	37	chr3	31641886	31641886	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggttatgtatttatcatcaAtcttattccactgcatgtat	5	7	3	0			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr3:31641886A>G	ENST00000295770.2	+	5	1021	c.812A>G	c.(811-813)aAt>aGt	p.N271S	STT3B_ENST00000453168.1_3'UTR	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	271					co-translational protein modification (GO:0043686)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						TTTATCATCAATCTTATTCCA	0.299																																						ENST00000295770.2																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(811-813)aAt>aGt		STT3B, subunit of the oligosaccharyltransferase complex (catalytic)							143	134	137					3																	31641886		2202	4297	6499	SO:0001583	missense	201595				protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr3:31641886A>G	AK027789	CCDS2650.1	3p24.1	2013-03-06	2013-03-06		ENSG00000163527	ENSG00000163527	2.4.99.18		30611	protein-coding gene	gene with protein product	"source of immunodominant MHC associated peptides", "dolichyl-diphosphooligosaccharide protein glycotransferase"	608605	"STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)"			12887896, 12439619	Standard	XM_006713017		Approved	SIMP, FLJ90106, STT3-B	uc011axe.2	Q8TCJ2	OTTHUMG00000130673	ENST00000295770.2:c.812A>G	3.37:g.31641886A>G	ENSP00000295770:p.Asn271Ser					STT3B_ENST00000453168.1_3'UTR	p.N271S	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN			5	1021	+			271					Q96JZ4|Q96KY7	Missense_Mutation	SNP	ENST00000295770.2	37	c.812A>G	CCDS2650.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.596325	0.86953	.	.	ENSG00000163527	ENST00000295770	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.87466	0.6184	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91304	0.5069	9	0.87932	D	0	-17.9132	15.0891	0.72180	1.0:0.0:0.0:0.0	.	271	Q8TCJ2	STT3B_HUMAN	S	271	.	ENSP00000295770:N271S	N	+	2	0	STT3B	31616890	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.690000	0.91272	2.182000	0.69389	0.528000	0.53228	AAT		0.299	STT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253166.2	NM_178862		5	102	0	0	0	1	0	5	102					G	31641886	A	G	31641886	3	3	318	1	0	0	0	0	1	0	0	0	15333	101	4	3	830	3	STT3B	3	31641886	Missense_Mutation	SNP	A	TCGA-EM-A3AQ-01A-11D-A20C-08		31641886	166380544	3	6729											
SEL1L3	23231	broad.mit.edu	37	chr4	25785870	25785870	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttggaagctgctttcttcaTcagctctaaggcaagccgtc	9	12	4	0			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr4:25785870T>C	ENST00000399878.3	-	14	2382	c.2260A>G	c.(2260-2262)Atg>Gtg	p.M754V	SEL1L3_ENST00000264868.5_Missense_Mutation_p.M719V|SEL1L3_ENST00000502949.1_Missense_Mutation_p.M601V	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	754						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GCTTTCTTCATCAGCTCTAAG	0.438																																						ENST00000399878.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						c.(2260-2262)Atg>Gtg		sel-1 suppressor of lin-12-like 3 (C. elegans)							228	228	228					4																	25785870		2021	4178	6199	SO:0001583	missense	23231					integral to membrane	binding	g.chr4:25785870T>C	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"KIAA0746 protein"					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.2260A>G	4.37:g.25785870T>C	ENSP00000382767:p.Met754Val					SEL1L3_ENST00000264868.5_Missense_Mutation_p.M719V|SEL1L3_ENST00000502949.1_Missense_Mutation_p.M601V	p.M754V	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN			14	2382	-			754					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	c.2260A>G	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	T	19.94	3.920473	0.73213	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.50548	0.74;0.74;0.74	5.58	5.58	0.84498	Tetratricopeptide-like helical (1);	0.048817	0.85682	D	0.000000	T	0.49643	0.1569	N	0.14661	0.345	0.40760	D	0.982994	P;D	0.54047	0.884;0.964	P;P	0.60886	0.761;0.88	T	0.56842	-0.7912	10	0.54805	T	0.06	-28.5897	15.4199	0.75003	0.0:0.0:0.0:1.0	.	161;754	B4DTH5;Q68CR1	.;SE1L3_HUMAN	V	754;719;601	ENSP00000382767:M754V;ENSP00000264868:M719V;ENSP00000425438:M601V	ENSP00000264868:M719V	M	-	1	0	SEL1L3	25394968	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.836000	0.55813	2.136000	0.66102	0.454000	0.30748	ATG		0.438	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		17	192	0	0	0	1	0	17	192					C	25785870	T	C	25785870	3	2	318	1	0	0	0	0	1	0	0	0	14012	1435	50	3	1182	3	SEL1L3	4	25785870	Missense_Mutation	SNP	T	TCGA-EM-A3AQ-01A-11D-A20C-08		25785870	165368406	4	6730											
UGT2B28	54490	broad.mit.edu	37	chr4	70146384	70146384	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtcatgaggtgactgtaCtggcatcttcagcttccatt	11	9	3	2			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr4:70146384C>T	ENST00000335568.5	+	1	168	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L	UGT2B28_ENST00000511240.1_Silent_p.L56L	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	56					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						GGTGACTGTACTGGCATCTTC	0.403																																						ENST00000335568.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(166-168)Ctg>Ttg		UDP glucuronosyltransferase 2 family, polypeptide B28	Flunitrazepam(DB01544)						109	130	123					4																	70146384		2088	4253	6341	SO:0001819	synonymous_variant	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70146384C>T	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"UDP glucuronosyltransferases"	13479	protein-coding gene	gene with protein product		606497	"UDP glycosyltransferase 2 family, polypeptide B28"			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.166C>T	4.37:g.70146384C>T						UGT2B28_ENST00000511240.1_Silent_p.L56L	p.L56L	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN			1	168	+			56					B5BUM0|Q9BY62|Q9BY63	Silent	SNP	ENST00000335568.5	37	c.166C>T	CCDS3528.1																																																																																				0.403	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		3	87	0	0	0	1	0	3	87					T	70146384	C	T	70146384	2	4	318	1	0	0	0	0	0	0	0	1	16957	564	20	2		2	UGT2B28	4	70146384	Silent	SNP	C	TCGA-EM-A3AQ-01A-11D-A20C-08	44360514	70146384	121007892	5	6731											
RNF39	80352	broad.mit.edu	37	chr6	30043521	30043521	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccctctcctgggattgcctCtctcttcaaccagagtctca	6	17	5	1			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr6:30043521C>T	ENST00000244360.6	-	1	143	c.46G>A	c.(46-48)Gag>Aag	p.E16K	RNF39_ENST00000376751.3_Missense_Mutation_p.E16K	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	16						cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										GGGATTGCCTCTCTCTTCAAC	0.587																																					NSCLC(8;188 360 1520 20207 31481)	ENST00000244360.6																			0											c.(46-48)Gag>Aag		ring finger protein 39							53	55	54					6																	30043521		2203	4300	6503	SO:0001583	missense	80352					cytoplasm	zinc ion binding	g.chr6:30043521C>T	AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"RING-type (C3HC4) zinc fingers"	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.46G>A	6.37:g.30043521C>T	ENSP00000244360:p.Glu16Lys					RNF39_ENST00000376751.3_Missense_Mutation_p.E16K	p.E16K	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN			1	143	-			16					A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Missense_Mutation	SNP	ENST00000244360.6	37	c.46G>A	CCDS4673.1	.	.	.	.	.	.	.	.	.	.	c	17.97	3.518650	0.64634	.	.	ENSG00000204618	ENST00000376751;ENST00000244360;ENST00000376746	T;T	0.72505	-0.22;-0.66	3.71	-2.71	0.05986	.	.	.	.	.	T	0.18509	0.0444	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.12293	-1.0553	9	0.23302	T	0.38	.	2.0814	0.03635	0.1315:0.3582:0.3093:0.201	.	16;16	Q9H2S5;Q9H2S5-2	RNF39_HUMAN;.	K	16	ENSP00000365942:E16K;ENSP00000244360:E16K	ENSP00000244360:E16K	E	-	1	0	RNF39	30151500	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	0.310000	0.19356	-0.453000	0.07076	0.436000	0.28706	GAG		0.587	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	NM_170769		51	88	0	0	0	1	0	51	88					T	30043521	C	T	30043521	3	4	318	1	0	0	0	0	1	0	0	0	13491	922	32	2	1232	2	RNF39	6	30043521	Missense_Mutation	SNP	C	TCGA-EM-A3AQ-01A-11D-A20C-08		30043521	141071546	6	6732											
RPL10A	4736	broad.mit.edu	37	chr6	35436757	35436757	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtggagttgcagatcagcttGaagaactatgatccccagaa	11	8	1	5			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr6:35436757G>T	ENST00000322203.6	+	3	141	c.114G>T	c.(112-114)ttG>ttT	p.L38F	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	38					anatomical structure morphogenesis (GO:0009653)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|large_intestine(2)|ovary(1)	4						AGATCAGCTTGAAGAACTATG	0.657																																						ENST00000322203.6																			0				breast(1)|large_intestine(2)|ovary(1)	4						c.(112-114)ttG>ttT		ribosomal protein L10a							40	39	39					6																	35436757		2203	4300	6503	SO:0001583	missense	4736				anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr6:35436757G>T	U12404	CCDS4806.1	6p21.31	2011-04-06			ENSG00000198755	ENSG00000198755		"L ribosomal proteins"	10299	protein-coding gene	gene with protein product		615660		NEDD6		7609734, 9647638	Standard	NM_007104		Approved	Csa-19, L10A	uc003okp.1	P62906	OTTHUMG00000014566	ENST00000322203.6:c.114G>T	6.37:g.35436757G>T	ENSP00000363018:p.Leu38Phe					RPL10A_ENST00000467020.1_3'UTR	p.L38F	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN			3	141	+			38					B2R801|P52859|P53025|Q5TZT6|Q8J013	Missense_Mutation	SNP	ENST00000322203.6	37	c.114G>T	CCDS4806.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.848894	0.71603	.	.	ENSG00000198755	ENST00000322203	T	0.54866	0.55	5.13	3.3	0.37823	Ribosomal protein L1, 2-layer alpha/beta-sandwich (1);Ribosomal protein L1, superfamily (1);	0.079960	0.46442	D	0.000299	T	0.65333	0.2681	M	0.89030	3	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.70022	-0.4986	10	0.87932	D	0	.	8.7856	0.34818	0.083:0.403:0.5141:0.0	.	38	P62906	RL10A_HUMAN	F	38	ENSP00000363018:L38F	ENSP00000363018:L38F	L	+	3	2	RPL10A	35544735	1.000000	0.71417	0.986000	0.45419	0.944000	0.59088	2.621000	0.46418	0.522000	0.28464	0.478000	0.44815	TTG		0.657	RPL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040283.1	NM_007104		30	43	1	0	6.86731e-36	1	7.96608e-36	30	43					T	35436757	G	T	35436757	3	4	318	1	0	0	0	0	1	0	0	0	13555	1281	45	4	124	4	RPL10A	6	35436757	Missense_Mutation	SNP	G	TCGA-EM-A3AQ-01A-11D-A20C-08	5393236	35436757	135678310	7	6733											
HOXA6	3203	broad.mit.edu	37	chr7	27185344	27185344	+	Frame_Shift_Del	DEL	T	T	-													aattgatgagcttgttttccTttttccacttcatgcggcgg							TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr7:27185344delT	ENST00000222728.3	-	2	659	c.635delA	c.(634-636)aagfs	p.K212fs	HOXA5_ENST00000520854.1_5'Flank|HOXA-AS3_ENST00000521231.1_RNA|HOXA-AS3_ENST00000518947.2_RNA|HOXA5_ENST00000222726.3_5'Flank|RP1-170O19.23_ENST00000498652.1_RNA|HOXA-AS3_ENST00000518848.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA6_ENST00000521478.1_5'UTR	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	212					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						CTTGTTTTCCTTTTTCCACTT	0.617																																						ENST00000222728.3																			0				central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						c.(634-636)agfs		homeobox A6							156	147	150					7																	27185344		2203	4300	6503	SO:0001589	frameshift_variant	3203					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27185344delT		CCDS5407.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106006	ENSG00000106006		"Homeoboxes / ANTP class : HOXL subclass"	5107	protein-coding gene	gene with protein product		142951	"homeo box A6"	HOX1B, HOX1		1973146, 1358459	Standard	NM_024014		Approved		uc003syo.2	P31267	OTTHUMG00000023216	ENST00000222728.3:c.635delA	7.37:g.27185344delT	ENSP00000222728:p.Lys212fs					HOXA6_ENST00000521478.1_5'UTR|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA3_ENST00000467897.2_Intron	p.K212fs	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN			2	659	-			212					A4D192|Q2M3G3|Q9UPM0	Frame_Shift_Del	DEL	ENST00000222728.3	37	c.635delA	CCDS5407.1																																																																																				0.617	HOXA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358697.1			7	299						7	299	---	---	---	---	-	27185344	T	-	27185344	7	5	318	1	0	1	0	1	0	0	0	0	7296	1609	56	0	70	0	HOXA6	7	27185344	Frame_Shift_Del	DEL	T	TCGA-EM-A3AQ-01A-11D-A20C-08		27185344	131953319	8	6734											
KCND2	3751	broad.mit.edu	37	chr7	119915766	119915766	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaccagcatccctgcagcCttctggtataccatcgtcac	6	16	3	0			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr7:119915766C>T	ENST00000331113.4	+	1	2045	c.1080C>T	c.(1078-1080)gcC>gcT	p.A360A		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	360					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TCCCTGCAGCCTTCTGGTATA	0.512																																						ENST00000331113.4																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(1078-1080)gcC>gcT		potassium voltage-gated channel, Shal-related subfamily, member 2							121	104	110					7																	119915766		2203	4300	6503	SO:0001819	synonymous_variant	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119915766C>T	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1080C>T	7.37:g.119915766C>T							p.A360A	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN			1	2045	+	all_neural(327;0.117)		360					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	ENST00000331113.4	37	c.1080C>T	CCDS5776.1																																																																																				0.512	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		13	135	0	0	0	1	0	13	135					T	119915766	C	T	119915766	2	4	318	1	0	0	0	0	0	0	0	1	8019	668	24	2		2	KCND2	7	119915766	Silent	SNP	C	TCGA-EM-A3AQ-01A-11D-A20C-08	92730422	119915766	39222897	9	6735											
PDE7A	5150	broad.mit.edu	37	chr8	66635813	66635813	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagattcagtgtgacgatcGcaaagtggactcacacccaa	9	10	2	2			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr8:66635813G>A	ENST00000401827.3	-	12	1649	c.1206C>T	c.(1204-1206)tgC>tgT	p.C402C	PDE7A_ENST00000379419.4_Silent_p.C376C|PDE7A_ENST00000396642.3_Silent_p.C402C	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	402	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	TGTGACGATCGCAAAGTGGAC	0.294																																						ENST00000401827.3																			0				large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10						c.(1204-1206)tgC>tgT		phosphodiesterase 7A	Dyphylline(DB00651)|Ketotifen(DB00920)						60	63	62					8																	66635813		2203	4297	6500	SO:0001819	synonymous_variant	5150					cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr8:66635813G>A	L12052	CCDS34901.1, CCDS56538.1	8q13	2008-03-18				ENSG00000205268	3.1.4.17	"Phosphodiesterases"	8791	protein-coding gene	gene with protein product		171885				8389765, 9521885	Standard	NM_001242318		Approved	HCP1	uc003xvq.3	Q13946		ENST00000401827.3:c.1206C>T	8.37:g.66635813G>A						PDE7A_ENST00000379419.4_Silent_p.C376C|PDE7A_ENST00000396642.3_Silent_p.C402C	p.C402C	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		12	1649	-			402			Catalytic (By similarity).		A0AVH6|A8K436|A8K9G5|O15380|Q96T72	Silent	SNP	ENST00000401827.3	37	c.1206C>T	CCDS56538.1																																																																																				0.294	PDE7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378905.1			3	77	0	0	0	1	0	3	77					A	66635813	G	A	66635813	2	1	318	1	0	0	0	0	0	0	0	1	11651	1079	38	1		1	PDE7A	8	66635813	Silent	SNP	G	TCGA-EM-A3AQ-01A-11D-A20C-08		66635813	79728209	10	6736											
ATAD2	29028	broad.mit.edu	37	chr8	124361673	124361673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccataagagctagcagggtgGaaacaatagaactaaatttt	9	6	0	2			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr8:124361673G>A	ENST00000287394.5	-	14	1765	c.1658C>T	c.(1657-1659)tCc>tTc	p.S553F	MIR548AA1_ENST00000384971.2_RNA|ATAD2_ENST00000521903.1_Intron	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	553					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TAGCAGGGTGGAAACAATAGA	0.358																																						ENST00000287394.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.(1657-1659)tCc>tTc		ATPase family, AAA domain containing 2							92	87	89					8																	124361673		2203	4300	6503	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124361673G>A	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"ATPases / AAA-type"	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.1658C>T	8.37:g.124361673G>A	ENSP00000287394:p.Ser553Phe					ATAD2_ENST00000521903.1_Intron	p.S553F	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		14	1765	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		553					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.1658C>T	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.957457	0.92726	.	.	ENSG00000156802	ENST00000287394	D	0.93659	-3.26	5.7	5.7	0.88788	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.106729	0.64402	D	0.000003	D	0.96321	0.8800	M	0.64260	1.97	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96387	0.9286	10	0.87932	D	0	-8.2973	19.8338	0.96646	0.0:0.0:1.0:0.0	.	553	Q6PL18	ATAD2_HUMAN	F	553	ENSP00000287394:S553F	ENSP00000287394:S553F	S	-	2	0	ATAD2	124430854	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.692000	0.91855	0.591000	0.81541	TCC		0.358	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		5	122	0	0	0	1	0	5	122					A	124361673	G	A	124361673	3	1	318	1	0	0	0	0	1	0	0	0	1071	1174	41	2	2574	2	ATAD2	8	124361673	Missense_Mutation	SNP	G	TCGA-EM-A3AQ-01A-11D-A20C-08	57725860	124361673	22002349	11	6737											
BAT2L1	84726	broad.mit.edu	37	chr9	134351428	134351428	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccttcaggagaaggcgcccCccacgccaagataagccccc	9	19	1	2			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr9:134351428C>A	ENST00000357304.4	+	15	3967	c.3912C>A	c.(3910-3912)ccC>ccA	p.P1304P	PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1304							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GAAGGCGCCCCCCACGCCAAG	0.637											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000357304.4																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						c.(3910-3912)ccC>ccA		proline-rich coiled-coil 2B							53	62	59					9																	134351428		1907	4125	6032	SO:0001819	synonymous_variant	84726						protein binding	g.chr9:134351428C>A	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.3912C>A	9.37:g.134351428C>A			OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1610	PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR	p.P1304P	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN			15	3967	+			1304					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Silent	SNP	ENST00000357304.4	37	c.3912C>A	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	C	8.060	0.767875	0.15983	.	.	ENSG00000130723	ENST00000451855	T	0.07327	3.2	5.66	-1.1	0.09872	.	.	.	.	.	T	0.10723	0.0262	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32134	-0.9918	6	0.87932	D	0	.	2.0418	0.03552	0.204:0.4535:0.0994:0.2431	.	.	.	.	T	38	ENSP00000388579:P38T	ENSP00000388579:P38T	P	+	1	0	PRRC2B	133341249	0.000000	0.05858	0.990000	0.47175	0.990000	0.78478	-1.933000	0.01553	-0.169000	0.10834	0.655000	0.94253	CCC		0.637	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				47	57	1	0	2.27459e-33	1	2.53705e-33	47	57					A	134351428	C	A	134351428	2	1	318	1	0	0	0	0	0	0	0	1	1320	610	22	4		4	BAT2L1	9	134351428	Silent	SNP	C	TCGA-EM-A3AQ-01A-11D-A20C-08		134351428	6862003	12	6738											
GFI1B	8328	broad.mit.edu	37	chr9	135865217	135865217	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctcatccactcagacacgcGgccctacccctgccagttct	7	19	3	1			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr9:135865217G>T	ENST00000339463.3	+	10	1556	c.737G>T	c.(736-738)cGg>cTg	p.R246L	GFI1B_ENST00000450530.1_Missense_Mutation_p.R246L|GFI1B_ENST00000372123.1_Missense_Mutation_p.R200L|GFI1B_ENST00000372122.1_Missense_Mutation_p.R246L|GFI1B_ENST00000534944.1_Missense_Mutation_p.R200L|GFI1B_ENST00000372124.1_Missense_Mutation_p.R200L			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	246	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		TCAGACACGCGGCCCTACCCC	0.612																																						ENST00000339463.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21						c.(736-738)cGg>cTg		growth factor independent 1B transcription repressor							80	63	69					9																	135865217		2203	4300	6503	SO:0001583	missense	8328				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	g.chr9:135865217G>T	AF081946	CCDS6957.1, CCDS48049.1	9q34.13	2014-09-17	2007-10-04		ENSG00000165702	ENSG00000165702		"Zinc fingers, C2H2-type"	4238	protein-coding gene	gene with protein product		604383	"growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)"			9878267	Standard	NM_001135031		Approved		uc004ccg.3	Q5VTD9	OTTHUMG00000020848	ENST00000339463.3:c.737G>T	9.37:g.135865217G>T	ENSP00000344782:p.Arg246Leu					GFI1B_ENST00000372122.1_Missense_Mutation_p.R246L|GFI1B_ENST00000372124.1_Missense_Mutation_p.R200L|GFI1B_ENST00000534944.1_Missense_Mutation_p.R200L|GFI1B_ENST00000450530.1_Missense_Mutation_p.R246L|GFI1B_ENST00000372123.1_Missense_Mutation_p.R200L	p.R246L			Q5VTD9	GFI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)	10	1556	+			246			Interaction with ARIH2.|Mediates interaction with GATA1.		O95270|Q5VTD8|Q6FHZ2|Q6T888	Missense_Mutation	SNP	ENST00000339463.3	37	c.737G>T	CCDS6957.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098361	0.94197	.	.	ENSG00000165702	ENST00000372124;ENST00000339463;ENST00000450530;ENST00000534944;ENST00000372123;ENST00000372122	T;T;T;T;T;T	0.29917	1.55;2.38;2.38;1.55;1.55;2.38	4.67	4.67	0.58626	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.52917	0.1764	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.57106	-0.7868	10	0.87932	D	0	-35.7585	16.9334	0.86197	0.0:0.0:1.0:0.0	.	200;246	Q5VTD9-2;Q5VTD9	.;GFI1B_HUMAN	L	200;246;246;200;200;246	ENSP00000361197:R200L;ENSP00000344782:R246L;ENSP00000409546:R246L;ENSP00000446134:R200L;ENSP00000361196:R200L;ENSP00000361195:R246L	ENSP00000344782:R246L	R	+	2	0	GFI1B	134855038	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.585000	0.98223	2.294000	0.77228	0.491000	0.48974	CGG		0.612	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393840.1	NM_004188		3	73	1	0	1	1	1	3	73					T	135865217	G	T	135865217	3	4	318	1	0	0	0	0	1	0	0	0	6340	1116	39	4	755	4	GFI1B	9	135865217	Missense_Mutation	SNP	G	TCGA-EM-A3AQ-01A-11D-A20C-08	1513789	135865217	5348214	13	6739											
UBAC1	10422	broad.mit.edu	37	chr9	138830109	138830109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggcccagctgcaccaccGggttatccaggatggcctga	12	14	1	1			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr9:138830109G>A	ENST00000371756.3	-	9	1278	c.1061C>T	c.(1060-1062)cCg>cTg	p.P354L	UBAC1_ENST00000465873.1_5'Flank	NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN	UBA domain containing 1	354	STI1.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		CTGCACCACCGGGTTATCCAG	0.612																																					NSCLC(78;973 1398 27381 29552 42415)	ENST00000371756.3																			0				NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(1060-1062)cCg>cTg		UBA domain containing 1							123	114	117					9																	138830109		2203	4300	6503	SO:0001583	missense	10422					Golgi apparatus|plasma membrane	protein binding	g.chr9:138830109G>A	AF176796	CCDS35177.1	9q34.3	2008-02-05	2007-04-20	2007-04-20	ENSG00000130560	ENSG00000130560			30221	protein-coding gene	gene with protein product		608129	"ubiquitin associated domain containing 1"	UBADC1		10857748, 8619474	Standard	NM_016172		Approved	GBDR1	uc004cgt.3	Q9BSL1	OTTHUMG00000020920	ENST00000371756.3:c.1061C>T	9.37:g.138830109G>A	ENSP00000360821:p.Pro354Leu						p.P354L	NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)	9	1278	-		Myeloproliferative disorder(178;0.0511)	354			STI1.		O75500|Q9UMW7	Missense_Mutation	SNP	ENST00000371756.3	37	c.1061C>T	CCDS35177.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843710	0.91197	.	.	ENSG00000130560	ENST00000371756	T	0.46819	0.86	4.8	4.8	0.61643	Heat shock chaperonin-binding (1);	0.000000	0.85682	D	0.000000	T	0.65112	0.2660	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68988	-0.5264	10	0.87932	D	0	-25.5345	16.8501	0.85991	0.0:0.0:1.0:0.0	.	354	Q9BSL1	UBAC1_HUMAN	L	354	ENSP00000360821:P354L	ENSP00000360821:P354L	P	-	2	0	UBAC1	137969930	1.000000	0.71417	0.928000	0.36995	0.971000	0.66376	9.426000	0.97469	2.201000	0.70794	0.561000	0.74099	CCG		0.612	UBAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055034.1	NM_016172		4	127	0	0	0	1	0	4	127					A	138830109	G	A	138830109	3	1	318	1	0	0	0	0	1	0	0	0	16831	1116	39	1	164	1	UBAC1	9	138830109	Missense_Mutation	SNP	G	TCGA-EM-A3AQ-01A-11D-A20C-08	2964892	138830109	2383322	14	6740											
GTPBP4	23560	broad.mit.edu	37	chr10	1060250	1060250	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgacatggacgataaagacGatgtgagtgtgggggcggtt	17	4	0	3			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr10:1060250G>A	ENST00000360803.4	+	15	1688	c.1606G>A	c.(1606-1608)Gat>Aat	p.D536N	GTPBP4_ENST00000538293.1_Missense_Mutation_p.D420N|GTPBP4_ENST00000545048.1_Missense_Mutation_p.D489N	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	536					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.D536N(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		CGATAAAGACGATGTGAGTGT	0.443																																						ENST00000360803.4																			1	Substitution - Missense(1)	p.D536N(1)	large_intestine(1)	endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21						c.(1606-1608)Gat>Aat		GTP binding protein 4							193	152	166					10																	1060250		2203	4300	6503	SO:0001583	missense	23560				negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	g.chr10:1060250G>A	AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"G protein-binding protein CRFG", " GTP-binding protein"					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.1606G>A	10.37:g.1060250G>A	ENSP00000354040:p.Asp536Asn					GTPBP4_ENST00000545048.1_Missense_Mutation_p.D489N|GTPBP4_ENST00000538293.1_Missense_Mutation_p.D420N	p.D536N	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)	15	1688	+		all_epithelial(10;0.107)|Colorectal(49;0.14)	536					B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Missense_Mutation	SNP	ENST00000360803.4	37	c.1606G>A	CCDS31132.1	.	.	.	.	.	.	.	.	.	.	G	3.557	-0.090454	0.07053	.	.	ENSG00000107937	ENST00000360803;ENST00000538293;ENST00000545048	T;T;T	0.32023	1.47;1.47;1.47	5.27	-1.59	0.08453	.	0.403858	0.30676	N	0.009102	T	0.12135	0.0295	N	0.13198	0.31	0.32222	N	0.575119	B	0.02656	0.0	B	0.01281	0.0	T	0.38394	-0.9663	10	0.07990	T	0.79	-21.0744	7.6101	0.28124	0.2745:0.142:0.5834:0.0	.	536	Q9BZE4	NOG1_HUMAN	N	536;420;489	ENSP00000354040:D536N;ENSP00000444277:D420N;ENSP00000445473:D489N	ENSP00000354040:D536N	D	+	1	0	GTPBP4	1050250	1.000000	0.71417	0.015000	0.15790	0.040000	0.13550	1.733000	0.38156	-0.134000	0.11516	-0.143000	0.13931	GAT		0.443	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046412.1	NM_012341		51	73	0	0	0	1	0	51	73					A	1060250	G	A	1060250	3	1	318	1	0	0	0	0	1	0	0	0	6882	1058	37	1	1664	1	GTPBP4	10	1060250	Missense_Mutation	SNP	G	TCGA-EM-A3AQ-01A-11D-A20C-08		1060250	134474497	15	6741											
ZNF408	79797	broad.mit.edu	37	chr11	46727180	46727180	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccctctgtgccttctgctGcttctgagcccactgtggtg	10	15	3	1			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr11:46727180G>T	ENST00000311764.2	+	5	2160	c.1930G>T	c.(1930-1932)Gct>Tct	p.A644S		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	644					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCCTTCTGCTGCTTCTGAGCC	0.637																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)	ENST00000311764.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1930-1932)Gct>Tct		zinc finger protein 408							46	41	42					11																	46727180		2201	4299	6500	SO:0001583	missense	79797				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr11:46727180G>T	AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"Zinc fingers, C2H2-type"	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.1930G>T	11.37:g.46727180G>T	ENSP00000309606:p.Ala644Ser						p.A644S	NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN			5	2160	+			644						Missense_Mutation	SNP	ENST00000311764.2	37	c.1930G>T	CCDS7923.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689763	0.48097	.	.	ENSG00000175213	ENST00000311764	T	0.10477	2.87	4.23	-0.267	0.12938	.	0.556654	0.15031	N	0.284422	T	0.05547	0.0146	L	0.27053	0.805	0.09310	N	1	B;B	0.22480	0.07;0.015	B;B	0.15870	0.014;0.006	T	0.33548	-0.9864	10	0.48119	T	0.1	-0.8622	0.7228	0.00943	0.1923:0.159:0.3225:0.3262	.	636;644	B4DXY4;Q9H9D4	.;ZN408_HUMAN	S	644	ENSP00000309606:A644S	ENSP00000309606:A644S	A	+	1	0	ZNF408	46683756	.	.	0.019000	0.16419	0.901000	0.52897	.	.	0.149000	0.19098	0.557000	0.71058	GCT		0.637	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390485.2	NM_024741		4	96	1	0	1	1	1	4	96					T	46727180	G	T	46727180	3	4	318	1	0	0	0	0	1	0	0	0	17885	1319	46	4	1980	4	ZNF408	11	46727180	Missense_Mutation	SNP	G	TCGA-EM-A3AQ-01A-11D-A20C-08		46727180	88279336	16	6742											
RNF214	257160	broad.mit.edu	37	chr11	117152830	117152830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcttgggttcccttgtcaGcccccacggtccacacatgc	10	16	1	0			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr11:117152830G>A	ENST00000531452.1	+	11	1602	c.1556G>A	c.(1555-1557)aGc>aAc	p.S519N	RNF214_ENST00000530849.1_Missense_Mutation_p.S364N|RNF214_ENST00000531287.1_Missense_Mutation_p.S364N|RNF214_ENST00000300650.4_Missense_Mutation_p.S519N|RNF214_ENST00000524917.1_Intron	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	519	Pro-rich.						zinc ion binding (GO:0008270)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		TCCCTTGTCAGCCCCCACGGT	0.637																																						ENST00000530849.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(1090-1092)aGc>aAc		ring finger protein 214							109	115	113					11																	117152830		1919	4121	6040	SO:0001583	missense	257160						zinc ion binding	g.chr11:117152830G>A	AL834448	CCDS41720.1, CCDS60976.1	11q23.3	2014-02-12	2007-02-16		ENSG00000167257	ENSG00000167257		"RING-type (C3HC4) zinc fingers"	25335	protein-coding gene	gene with protein product							Standard	NM_001077239		Approved	DKFZp547C195	uc001pqt.4	Q8ND24	OTTHUMG00000167069	ENST00000531452.1:c.1556G>A	11.37:g.117152830G>A	ENSP00000431643:p.Ser519Asn					RNF214_ENST00000531452.1_Missense_Mutation_p.S519N|RNF214_ENST00000300650.4_Missense_Mutation_p.S519N|RNF214_ENST00000524917.1_Intron|RNF214_ENST00000531287.1_Missense_Mutation_p.S364N	p.S364N			Q8ND24	RN214_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)	10	1101	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	519					B2RUW0|B4DTD1	Missense_Mutation	SNP	ENST00000531452.1	37	c.1091G>A	CCDS41720.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.250967	0.39797	.	.	ENSG00000167257	ENST00000531287;ENST00000531452;ENST00000530849;ENST00000300650;ENST00000534709	T;T;T;T	0.38722	2.56;1.12;2.56;1.12	5.49	5.49	0.81192	.	0.122494	0.53938	D	0.000050	T	0.32010	0.0815	N	0.22421	0.69	0.33590	D	0.600979	B;B	0.22146	0.065;0.007	B;B	0.24848	0.056;0.016	T	0.34229	-0.9837	10	0.23302	T	0.38	-0.3402	16.5247	0.84327	0.0:0.0:1.0:0.0	.	364;519	B4DTD1;Q8ND24	.;RN214_HUMAN	N	364;519;364;519;71	ENSP00000435361:S364N;ENSP00000431643:S519N;ENSP00000432903:S364N;ENSP00000300650:S519N	ENSP00000300650:S519N	S	+	2	0	RNF214	116658040	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.688000	0.61715	2.573000	0.86826	0.561000	0.74099	AGC		0.637	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392884.1	NM_001077239		6	343	0	0	0	1	0	6	343					A	117152830	G	A	117152830	3	1	318	1	0	0	0	0	1	0	0	0	13478	971	34	2	1594	2	RNF214	11	117152830	Missense_Mutation	SNP	G	TCGA-EM-A3AQ-01A-11D-A20C-08	70425650	117152830	17853686	17	6743											
COQ10A	93058	broad.mit.edu	37	chr12	56664037	56664037	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgagcgtcgggcagccaCcaagtttggtccagaaacag	12	11	0	2			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr12:56664037C>T	ENST00000308197.5	+	5	941	c.680C>T	c.(679-681)aCc>aTc	p.T227I	COQ10A_ENST00000433805.2_Missense_Mutation_p.T195I|RP11-977G19.14_ENST00000546464.1_RNA|COQ10A_ENST00000546544.1_Missense_Mutation_p.T210I	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A (S. cerevisiae)	227						mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						CGGGCAGCCACCAAGTTTGGT	0.527																																						ENST00000308197.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						c.(679-681)aCc>aTc		coenzyme Q10 homolog A (S. cerevisiae)							130	129	129					12																	56664037		1998	4169	6167	SO:0001583	missense	93058					mitochondrial inner membrane		g.chr12:56664037C>T	AK057003	CCDS41796.1, CCDS44921.1	12q13.3	2011-09-16	2006-04-04		ENSG00000135469	ENSG00000135469			26515	protein-coding gene	gene with protein product			"coenzyme Q10 homolog A (yeast)"				Standard	NM_144576		Approved	FLJ32452	uc001sko.4	Q96MF6	OTTHUMG00000170283	ENST00000308197.5:c.680C>T	12.37:g.56664037C>T	ENSP00000312587:p.Thr227Ile					COQ10A_ENST00000546544.1_Missense_Mutation_p.T210I|COQ10A_ENST00000433805.2_Missense_Mutation_p.T195I	p.T227I	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN			5	941	+			227					Q6GMR6|Q6UWB9|Q86X16|Q8TAL2|Q96MF1|Q9BUP4	Missense_Mutation	SNP	ENST00000308197.5	37	c.680C>T	CCDS41796.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.396|9.396	1.076642|1.076642	0.20227|0.20227	.|.	.|.	ENSG00000135469|ENSG00000135469	ENST00000553234;ENST00000551814|ENST00000308197;ENST00000433805;ENST00000546544	.|T;T;T	.|0.23147	.|1.92;1.93;1.92	4.85|4.85	3.94|3.94	0.45596|0.45596	.|START-like domain (1);	.|0.048448	.|0.85682	.|D	.|0.000000	T|T	0.15696|0.15696	0.0378|0.0378	N|N	0.12182|0.12182	0.205|0.205	0.38688|0.38688	D|D	0.9527|0.9527	.|B;B;B	.|0.16396	.|0.01;0.017;0.017	.|B;B;B	.|0.21917	.|0.037;0.029;0.029	T|T	0.07424|0.07424	-1.0773|-1.0773	5|10	.|0.66056	.|D	.|0.02	.|.	11.0871|11.0871	0.48093|0.48093	0.4545:0.5454:0.0:0.0|0.4545:0.5454:0.0:0.0	.|.	.|210;232;227	.|Q96MF6-2;Q8TAL2;Q96MF6	.|.;.;CQ10A_HUMAN	S|I	133;44|227;195;210	.|ENSP00000312587:T227I;ENSP00000407843:T195I;ENSP00000446723:T210I	.|ENSP00000312587:T227I	P|T	+|+	1|2	0|0	COQ10A|COQ10A	54950304|54950304	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.105000|0.105000	0.19272|0.19272	5.116000|5.116000	0.64661|0.64661	1.380000|1.380000	0.46344|0.46344	-0.181000|-0.181000	0.13052|0.13052	CCA|ACC		0.527	COQ10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408332.1	NM_144576		7	179	0	0	0	1	0	7	179					T	56664037	C	T	56664037	3	4	318	1	0	0	0	0	1	0	0	0	3743	507	18	2	740	2	COQ10A	12	56664037	Missense_Mutation	SNP	C	TCGA-EM-A3AQ-01A-11D-A20C-08		56664037	77187858	18	6744											
PRPF39	55015	broad.mit.edu	37	chr14	45583710	45583710	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tatatagatcagaagaaccaGaggaaaagaaagcacataca	8	6	1	5			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr14:45583710G>C	ENST00000355765.6	+	13	2016	c.1846G>C	c.(1846-1848)Gag>Cag	p.E616Q		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	616					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						AGAAGAACCAGAGGAAAAGAA	0.338																																						ENST00000355765.6																			0				breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						c.(1846-1848)Gag>Cag		pre-mRNA processing factor 39							100	103	102					14																	45583710		2203	4300	6503	SO:0001583	missense	55015				mRNA processing|RNA splicing	nucleus	binding	g.chr14:45583710G>C	AK000673	CCDS9682.2	14q21.1	2013-10-03	2013-10-03		ENSG00000185246	ENSG00000185246			20314	protein-coding gene	gene with protein product		614907	"PRP39 pre-mRNA processing factor 39 homolog (yeast)", "PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae)"				Standard	NM_017922		Approved	FLJ20666, FLJ11128	uc001wvz.4	Q86UA1	OTTHUMG00000140265	ENST00000355765.6:c.1846G>C	14.37:g.45583710G>C	ENSP00000348010:p.Glu616Gln						p.E616Q	NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN			13	2016	+			616					Q08AL1|Q08AL2|Q9NUU5	Missense_Mutation	SNP	ENST00000355765.6	37	c.1846G>C	CCDS9682.2	.	.	.	.	.	.	.	.	.	.	G	12.86	2.065889	0.36470	.	.	ENSG00000185246	ENST00000355765	T	0.40756	1.02	5.79	5.79	0.91817	.	0.092797	0.64402	D	0.000001	T	0.33847	0.0877	N	0.22421	0.69	0.50632	D	0.999885	B;B	0.27416	0.178;0.007	B;B	0.31614	0.133;0.009	T	0.09314	-1.0680	10	0.14656	T	0.56	-26.6162	19.6316	0.95708	0.0:0.0:1.0:0.0	.	220;616	Q86UA1-2;Q86UA1	.;PRP39_HUMAN	Q	616	ENSP00000348010:E616Q	ENSP00000348010:E616Q	E	+	1	0	PRPF39	44653460	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.846000	0.69444	2.736000	0.93811	0.561000	0.74099	GAG		0.338	PRPF39-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319683.2			3	41	0	0	0	1	0	3	41					C	45583710	G	C	45583710	3	2	318	1	0	0	0	0	1	0	0	0	12569	943	33	4	1892	4	PRPF39	14	45583710	Missense_Mutation	SNP	G	TCGA-EM-A3AQ-01A-11D-A20C-08		45583710	61765830	19	6745											
CP110	9738	broad.mit.edu	37	chr16	19562584	19562584	+	3'UTR	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatttaagaagacaacattcAttaggataaaatggggggaa	10	3	1	2			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr16:19562584A>G	ENST00000381396.5	+	0	3300				CCP110_ENST00000396208.2_Silent_p.S989S|CCP110_ENST00000396212.2_Silent_p.S989S	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa						cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						GACAACATTCATTAGGATAAA	0.368																																						ENST00000396212.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						c.(2965-2967)tcA>tcG		centriolar coiled coil protein 110kDa							113	122	119					16																	19562584		2197	4300	6497	SO:0001624	3_prime_UTR_variant	9738				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding	g.chr16:19562584A>G	AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.*14A>G	16.37:g.19562584A>G						CCP110_ENST00000396208.2_Silent_p.S989S|CCP110_ENST00000381396.5_3'UTR	p.S989S	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN			15	3403	+			0					B7WP23|O43335|Q68DV9|Q8NE13	Silent	SNP	ENST00000381396.5	37	c.2967A>G	CCDS55992.1																																																																																				0.368	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254284.2	NM_014711		4	183	0	0	0	1	0	4	183					G	19562584	A	G	19562584	1	3	318	0	1	0	0	0	0	0	0	0	3788	204	8	3		3	CP110	16	19562584	3'UTR	SNP	A	TCGA-EM-A3AQ-01A-11D-A20C-08		19562584	70792169	20	6746											
GCSH	2653	broad.mit.edu	37	chr16	81129777	81129777	+	Frame_Shift_Del	DEL	C	C	-													tgcgcagcgtacggacggcgCccacccccagctgccagggc							TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr16:81129777delC	ENST00000315467.3	-	1	231	c.107delG	c.(106-108)ggcfs	p.G36fs	GCSH_ENST00000566566.1_Frame_Shift_Del_p.G36fs	NM_004483.4	NP_004474.2	P23434	GCSH_HUMAN	glycine cleavage system protein H (aminomethyl carrier)	36					glycine catabolic process (GO:0006546)|glycine decarboxylation via glycine cleavage system (GO:0019464)|methylation (GO:0032259)	glycine cleavage complex (GO:0005960)|mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(2)	5					Glycine(DB00145)	ACGGACGGCGCCCACCCCCAG	0.781																																						ENST00000315467.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(2)	5						c.(106-108)gcfs		glycine cleavage system protein H (aminomethyl carrier)	Glycine(DB00145)						2	2	2					16																	81129777		1367	2776	4143	SO:0001589	frameshift_variant	2653					glycine cleavage complex|mitochondrion	aminomethyltransferase activity	g.chr16:81129777delC	M69175	CCDS10933.1	16q23.2	2014-09-17			ENSG00000140905	ENSG00000140905			4208	protein-coding gene	gene with protein product	"lipoic acid-containing protein"	238330				1671321, 2025283	Standard	NM_004483		Approved		uc002fgd.3	P23434	OTTHUMG00000137626	ENST00000315467.3:c.107delG	16.37:g.81129777delC	ENSP00000319531:p.Gly36fs					GCSH_ENST00000566566.1_Frame_Shift_Del_p.G36fs	p.G36fs	NM_004483.4	NP_004474.2	P23434	GCSH_HUMAN			1	231	-			36					Q9H1E9	Frame_Shift_Del	DEL	ENST00000315467.3	37	c.107delG	CCDS10933.1																																																																																				0.781	GCSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269049.1	NM_004483		2	4						2	4	---	---	---	---	-	81129777	C	-	81129777	7	5	318	1	0	1	0	1	0	0	0	0	6305	739	26	0	434	0	GCSH	16	81129777	Frame_Shift_Del	DEL	C	TCGA-EM-A3AQ-01A-11D-A20C-08	61567193	81129777	9224976	21	6747											
FOXC2	2303	broad.mit.edu	37	chr16	86601995	86601995	+	Frame_Shift_Del	DEL	C	C	-													cggcgcacatgtgcgtcccgCccgccctggacgaggccctc							TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr16:86601995delC	ENST00000320354.4	+	1	1139	c.1054delC	c.(1054-1056)cccfs	p.P352fs	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	352					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|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 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)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						GTGCGTCCCGCCCGCCCTGGA	0.771									Late-onset Hereditary Lymphedema																													ENST00000320354.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						c.(1054-1056)ccfs		forkhead box C2 (MFH-1, mesenchyme forkhead 1)							2	3	2					16																	86601995		1336	2700	4036	SO:0001589	frameshift_variant	2303	Late-onset Hereditary Lymphedema	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|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|transcription regulatory region DNA binding	g.chr16:86601995delC	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"Forkhead boxes"	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.1054delC	16.37:g.86601995delC	ENSP00000326371:p.Pro352fs						p.P352fs	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN			1	1139	+			352					C6KMR9|Q14DA6	Frame_Shift_Del	DEL	ENST00000320354.4	37	c.1054delC	CCDS10958.1																																																																																				0.771	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	NM_005251		2	4						2	4	---	---	---	---	-	86601995	C	-	86601995	7	5	318	1	0	1	0	1	0	0	0	0	5995	739	26	0	1056	0	FOXC2	16	86601995	Frame_Shift_Del	DEL	C	TCGA-EM-A3AQ-01A-11D-A20C-08	5472218	86601995	3752758	22	6748											
SMCR7	125170	broad.mit.edu	37	chr17	18167971	18167971	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcaggccagcctgccctgcCacttcaaccccagcgtgaac	9	18	1	1			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr17:18167971C>A	ENST00000323019.4	+	4	1469	c.1258C>A	c.(1258-1260)Cac>Aac	p.H420N	MIEF2_ENST00000395704.4_3'UTR|MIEF2_ENST00000395706.2_Missense_Mutation_p.H431N	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	420					mitochondrion organization (GO:0007005)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)											CCTGCCCTGCCACTTCAACCC	0.622																																						ENST00000323019.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9						c.(1258-1260)Cac>Aac									45	44	44					17																	18167971		2203	4298	6501	SO:0001583	missense	0					integral to membrane	protein binding	g.chr17:18167971C>A	BC014973	CCDS11193.1, CCDS45624.1, CCDS45625.1	17p11.2	2013-09-23	2013-09-23	2013-09-23	ENSG00000177427	ENSG00000177427			17920	protein-coding gene	gene with protein product		615498	"Smith-Magenis syndrome chromosome region, candidate 7"	SMCR7		11997338, 21508961	Standard	NM_001144900		Approved	MGC23130, MiD49	uc010vxq.2	Q96C03	OTTHUMG00000059392	ENST00000323019.4:c.1258C>A	17.37:g.18167971C>A	ENSP00000323591:p.His420Asn					SMCR7_ENST00000395706.2_Missense_Mutation_p.H431N|SMCR7_ENST00000395704.4_3'UTR	p.H420N	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	SMCR7_HUMAN			4	1469	+	all_neural(463;0.228)		420					J3KPT3|Q6ZRD4|Q96N07	Missense_Mutation	SNP	ENST00000323019.4	37	c.1258C>A	CCDS11193.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156227	0.38021	.	.	ENSG00000177427	ENST00000323019;ENST00000395706	T;T	0.07800	3.16;3.16	5.45	4.4	0.53042	.	0.229716	0.47093	D	0.000256	T	0.07773	0.0195	L	0.44542	1.39	0.36324	D	0.858432	P	0.39717	0.684	B	0.40329	0.326	T	0.09662	-1.0664	10	0.56958	D	0.05	-28.2857	3.5538	0.07857	0.0:0.6394:0.0:0.3606	.	420	Q96C03	MID49_HUMAN	N	420;431	ENSP00000323591:H420N;ENSP00000379057:H431N	ENSP00000323591:H420N	H	+	1	0	SMCR7	18108696	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	2.041000	0.41213	2.565000	0.86533	0.462000	0.41574	CAC		0.622	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132060.2	NM_139162		4	64	1	0	1	1	1	4	64					A	18167971	C	A	18167971	3	1	318	1	0	0	0	0	1	0	0	0	14790	594	21	4	1305	4	SMCR7	17	18167971	Missense_Mutation	SNP	C	TCGA-EM-A3AQ-01A-11D-A20C-08		18167971	63027239	23	6749											
GATA6	2627	broad.mit.edu	37	chr18	19780673	19780673	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gcaccaatcccgagaacagcGagctcaagtattcgggtcaa	10	12	2	1			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr18:19780673G>C	ENST00000269216.3	+	7	1952	c.1675G>C	c.(1675-1677)Gag>Cag	p.E559Q	GATA6_ENST00000581694.1_Missense_Mutation_p.E559Q|RP11-627G18.1_ENST00000583442.1_RNA	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	559					blood coagulation (GO:0007596)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cellular response to BMP stimulus (GO:0071773)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to hypoxia (GO:0071456)|Clara cell differentiation (GO:0060486)|endodermal cell fate determination (GO:0007493)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|liver development (GO:0001889)|lung saccule development (GO:0060430)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|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 beta1 production (GO:0032911)|negative regulation of transforming growth factor beta2 production (GO:0032912)|organ formation (GO:0048645)|outflow tract septum morphogenesis (GO:0003148)|pancreatic A cell differentiation (GO:0003310)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to growth factor (GO:0070848)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)|tube morphogenesis (GO:0035239)|type B pancreatic cell differentiation (GO:0003309)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|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)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			CGAGAACAGCGAGCTCAAGTA	0.627																																					Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)	ENST00000269216.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18						c.(1675-1677)Gag>Cag		GATA binding protein 6							96	83	88					18																	19780673		2203	4300	6503	SO:0001583	missense	2627				blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr18:19780673G>C	U66075	CCDS11872.1	18q11-q12	2013-01-25	2001-11-28		ENSG00000141448	ENSG00000141448		"GATA zinc finger domain containing"	4174	protein-coding gene	gene with protein product		601656	"GATA-binding protein 6"			8975704	Standard	XM_005258248		Approved		uc002ktt.2	Q92908	OTTHUMG00000131767	ENST00000269216.3:c.1675G>C	18.37:g.19780673G>C	ENSP00000269216:p.Glu559Gln					RP11-627G18.1_ENST00000583442.1_RNA|GATA6_ENST00000581694.1_Missense_Mutation_p.E559Q	p.E559Q	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	STAD - Stomach adenocarcinoma(5;0.106)		7	1952	+	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		559					B0YJ17|P78327	Missense_Mutation	SNP	ENST00000269216.3	37	c.1675G>C	CCDS11872.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.565994	0.45694	.	.	ENSG00000141448	ENST00000269216	D	0.97941	-4.62	5.91	5.04	0.67666	.	0.800077	0.10981	N	0.612649	D	0.92293	0.7555	N	0.14661	0.345	0.23056	N	0.998367	B	0.25521	0.128	B	0.21546	0.035	D	0.84824	0.0798	10	0.21540	T	0.41	-8.5635	4.5481	0.12090	0.2279:0.0:0.6106:0.1615	.	559	Q92908	GATA6_HUMAN	Q	559	ENSP00000269216:E559Q	ENSP00000269216:E559Q	E	+	1	0	GATA6	18034671	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.353000	0.52247	1.508000	0.48769	0.655000	0.94253	GAG		0.627	GATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254696.1	NM_005257		7	136	0	0	0	1	0	7	136					C	19780673	G	C	19780673	3	2	318	1	0	0	0	0	1	0	0	0	6258	1059	37	4	1697	4	GATA6	18	19780673	Missense_Mutation	SNP	G	TCGA-EM-A3AQ-01A-11D-A20C-08		19780673	58296575	24	6750											
ANKRD24	170961	broad.mit.edu	37	chr19	4219657	4219657	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagctggccacagcagagCagcagctacgggggctacgg	15	13	0	1			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr19:4219657C>T	ENST00000600132.1	+	19	3349	c.3073C>T	c.(3073-3075)Cag>Tag	p.Q1025*	ANKRD24_ENST00000318934.4_Nonsense_Mutation_p.Q1025*|ANKRD24_ENST00000262970.5_Nonsense_Mutation_p.Q1115*	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1025										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CACAGCAGAGCAGCAGCTACG	0.657																																						ENST00000600132.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21						c.(3073-3075)Cag>Tag		ankyrin repeat domain 24							51	62	58					19																	4219657		2172	4276	6448	SO:0001587	stop_gained	170961							g.chr19:4219657C>T	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"Ankyrin repeat domain containing"	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.3073C>T	19.37:g.4219657C>T	ENSP00000471252:p.Gln1025*					ANKRD24_ENST00000318934.4_Nonsense_Mutation_p.Q1025*|ANKRD24_ENST00000262970.5_Nonsense_Mutation_p.Q1115*	p.Q1025*	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)	19	3349	+			1025					O75268|O95781	Nonsense_Mutation	SNP	ENST00000600132.1	37	c.3073C>T	CCDS45925.1	.	.	.	.	.	.	.	.	.	.	c	40	8.445180	0.98815	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	.	.	.	3.79	3.79	0.43588	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	11.8657	0.52493	0.0:1.0:0.0:0.0	.	.	.	.	X	1025;1115	.	ENSP00000262970:Q1115X	Q	+	1	0	ANKRD24	4170657	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	1.288000	0.33296	2.080000	0.62538	0.313000	0.20887	CAG		0.657	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		49	81	0	0	0	1	0	49	81					T	4219657	C	T	4219657	4	4	318	1	0	0	0	0	0	1	0	0	653	711	25	2	3143	2	ANKRD24	19	4219657	Nonsense_Mutation	SNP	C	TCGA-EM-A3AQ-01A-11D-A20C-08		4219657	54909326	25	6751											
TUBA8	51807	broad.mit.edu	37	chr22	18604302	18604302	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcagattggcaatgcctgCtgggagctcttctgcctgga	13	10	3	1			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr22:18604302C>T	ENST00000330423.3	+	2	133	c.60C>T	c.(58-60)tgC>tgT	p.C20C	TUBA8_ENST00000316027.6_5'UTR	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	20					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						GCAATGCCTGCTGGGAGCTCT	0.562																																						ENST00000330423.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						c.(58-60)tgC>tgT		tubulin, alpha 8							85	76	79					22																	18604302		2203	4300	6503	SO:0001819	synonymous_variant	51807				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr22:18604302C>T	AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"Tubulins"	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.60C>T	22.37:g.18604302C>T						TUBA8_ENST00000316027.6_5'UTR	p.C20C	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN			2	133	+			20					B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Silent	SNP	ENST00000330423.3	37	c.60C>T	CCDS13751.1																																																																																				0.562	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316232.3	NM_018943		52	64	0	0	0	1	0	52	64					T	18604302	C	T	18604302	2	4	318	1	0	0	0	0	0	0	0	1	16747	805	28	2		2	TUBA8	22	18604302	Silent	SNP	C	TCGA-EM-A3AQ-01A-11D-A20C-08		18604302	32700264	26	6752											
BEX1	55859	broad.mit.edu	37	chrX	102317829	102317829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaaaccatcaggattcagGgcataaggcaaaactcatca	10	9	4	0			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chrX:102317829G>A	ENST00000372728.3	-	3	613	c.374C>T	c.(373-375)cCc>cTc	p.P125L		NM_018476.3	NP_060946.3	Q9HBH7	BEX1_HUMAN	brain expressed, X-linked 1	125					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II activating transcription factor binding (GO:0001102)			endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						CAGGATTCAGGGCATAAGGCA	0.463																																						ENST00000372728.3																			0				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						c.(373-375)cCc>cTc		brain expressed, X-linked 1							147	123	131					X																	102317829		2203	4300	6503	SO:0001583	missense	55859				cell differentiation|nervous system development	cytoplasm|nucleus		g.chrX:102317829G>A		CCDS35354.1	Xq22.1	2014-03-21			ENSG00000133169	ENSG00000133169			1036	protein-coding gene	gene with protein product		300690				16221301	Standard	NM_018476		Approved		uc004ejt.1	Q9HBH7	OTTHUMG00000022708	ENST00000372728.3:c.374C>T	X.37:g.102317829G>A	ENSP00000361813:p.Pro125Leu						p.P125L	NM_018476.3	NP_060946.3	Q9HBH7	BEX1_HUMAN			3	613	-			125					A0AVN1|A8K4J3|Q9NZ33	Missense_Mutation	SNP	ENST00000372728.3	37	c.374C>T	CCDS35354.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.386208	0.61956	.	.	ENSG00000133169	ENST00000372728	T	0.36520	1.25	3.25	3.25	0.37280	.	0.000000	0.45606	D	0.000341	T	0.40719	0.1128	N	0.19112	0.55	0.43149	D	0.99491	D	0.89917	1.0	D	0.85130	0.997	T	0.38887	-0.9640	10	0.87932	D	0	.	9.0912	0.36612	0.0:0.0:1.0:0.0	.	125	Q9HBH7	BEX1_HUMAN	L	125	ENSP00000361813:P125L	ENSP00000361813:P125L	P	-	2	0	BEX1	102204485	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.152000	0.50677	1.882000	0.54519	0.600000	0.82982	CCC		0.463	BEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058925.1	NM_018476		5	110	0	0	0	1	0	5	110					A	102317829	G	A	102317829	3	1	318	1	0	0	0	0	1	0	0	0	1410	1232	43	2	7	2	BEX1	23	102317829	Missense_Mutation	SNP	G	TCGA-EM-A3AQ-01A-11D-A20C-08		102317829	52952731	27	6753											
ABCG8	64241	broad.mit.edu	37	chr2	44099167	44099167	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcaggaattggccaccagGgagaaggctcagtcactcgc	14	11	2	1	rs375807484		TCGA-EM-A3AR-01A-12D-A20C-08	TCGA-EM-A3AR-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26896f50-4aff-406e-91d5-d18ada7ae17a	92d7e25d-a9de-49e2-800c-0ab703ae1582	g.chr2:44099167G>A	ENST00000272286.2	+	7	1107	c.1017G>A	c.(1015-1017)agG>agA	p.R339R		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	339					ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	TGGCCACCAGGGAGAAGGCTC	0.547																																						ENST00000272286.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(1015-1017)agG>agA		ATP-binding cassette, sub-family G (WHITE), member 8		G		0,4406		0,0,2203	98	94	95		1017	3.0	1.0	2		95	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ABCG8	NM_022437.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		339/674	44099167	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44099167G>A	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"ATP binding cassette transporters / subfamily G"	13887	protein-coding gene	gene with protein product	"gallbladder disease 4", "sterolin 2"	605460	"ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1017G>A	2.37:g.44099167G>A							p.R339R	NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN			7	1107	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	339					Q53QN8	Silent	SNP	ENST00000272286.2	37	c.1017G>A	CCDS1815.1																																																																																				0.547	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		11	93	0	0	0	0.38729	0	11	93					A	44099167	G	A	44099167	2	1	319	1	0	0	0	0	0	0	0	1	72	1223	43	2		2	ABCG8	2	44099167	Silent	SNP	G	TCGA-EM-A3AR-01A-12D-A20C-08		44099167	199100206	1	6754											
KCNIP3	30818	broad.mit.edu	37	chr2	96047380	96047380	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctccatcctgctgcggggcAcagtccacgagaagctcaag	11	14	2	1			TCGA-EM-A3AR-01A-12D-A20C-08	TCGA-EM-A3AR-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26896f50-4aff-406e-91d5-d18ada7ae17a	92d7e25d-a9de-49e2-800c-0ab703ae1582	g.chr2:96047380A>G	ENST00000295225.5	+	6	619	c.484A>G	c.(484-486)Aca>Gca	p.T162A	KCNIP3_ENST00000468529.1_Missense_Mutation_p.T136A|KCNIP3_ENST00000360990.3_Missense_Mutation_p.T140A|KCNIP3_ENST00000377181.2_3'UTR	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin	162	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				apoptotic process (GO:0006915)|behavioral response to pain (GO:0048266)|intracellular protein transport (GO:0006886)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	axon terminus (GO:0043679)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|voltage-gated ion channel activity (GO:0005244)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		GCTGCGGGGCACAGTCCACGA	0.542																																						ENST00000295225.5																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(484-486)Aca>Gca		Kv channel interacting protein 3, calsenilin							153	140	144					2																	96047380		2203	4300	6503	SO:0001583	missense	30818				apoptosis|signal transduction|transcription, DNA-dependent	endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane	calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity	g.chr2:96047380A>G	AF199599	CCDS2013.1, CCDS33245.1	2q21.1	2013-01-10	2006-02-11	2006-02-11	ENSG00000115041	ENSG00000115041		"EF-hand domain containing"	15523	protein-coding gene	gene with protein product		604662	"calsenilin, presenilin-binding protein, EF hand transcription factor"	CSEN		9771752, 10078534	Standard	NM_013434		Approved	DREAM, KCHIP3, calsenilin	uc002sup.3	Q9Y2W7	OTTHUMG00000130392	ENST00000295225.5:c.484A>G	2.37:g.96047380A>G	ENSP00000295225:p.Thr162Ala					KCNIP3_ENST00000468529.1_Missense_Mutation_p.T136A|KCNIP3_ENST00000360990.3_Missense_Mutation_p.T140A|KCNIP3_ENST00000377181.2_3'UTR	p.T162A	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN		READ - Rectum adenocarcinoma(193;0.13)	6	619	+			162			EF-hand 3.		H7BY46|Q3YAC3|Q3YAC4|Q53TJ5|Q96T40|Q9UJ84|Q9UJ85	Missense_Mutation	SNP	ENST00000295225.5	37	c.484A>G	CCDS2013.1	.	.	.	.	.	.	.	.	.	.	A	17.76	3.469634	0.63625	.	.	ENSG00000115041	ENST00000295225;ENST00000360990;ENST00000468529	T;T;T	0.67865	-0.29;1.03;-0.29	5.39	5.39	0.77823	EF-hand-like domain (1);	0.056697	0.64402	D	0.000001	T	0.76856	0.4046	M	0.82923	2.615	0.41933	D	0.990579	B;B	0.30361	0.277;0.182	B;B	0.43478	0.421;0.24	T	0.79531	-0.1765	10	0.87932	D	0	.	13.3585	0.60642	1.0:0.0:0.0:0.0	.	136;162	Q9Y2W7-3;Q9Y2W7	.;CSEN_HUMAN	A	162;140;136	ENSP00000295225:T162A;ENSP00000354261:T140A;ENSP00000417499:T136A	ENSP00000295225:T162A	T	+	1	0	KCNIP3	95411107	1.000000	0.71417	0.949000	0.38748	0.889000	0.51656	4.420000	0.59841	2.051000	0.60960	0.379000	0.24179	ACA		0.542	KCNIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252770.1	NM_013434		9	81	0	0	0	0.361761	0	9	81					G	96047380	A	G	96047380	3	3	319	1	0	0	0	0	1	0	0	0	8041	159	6	3	613	3	KCNIP3	2	96047380	Missense_Mutation	SNP	A	TCGA-EM-A3AR-01A-12D-A20C-08	51948213	96047380	147151993	2	6755											
TTN	7273	broad.mit.edu	37	chr2	179412318	179412318	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccgattcacgcttttcaacTatgtaattagtaatttcagt	5	9	3	0			TCGA-EM-A3AR-01A-12D-A20C-08	TCGA-EM-A3AR-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26896f50-4aff-406e-91d5-d18ada7ae17a	92d7e25d-a9de-49e2-800c-0ab703ae1582	g.chr2:179412318T>C	ENST00000591111.1	-	289	89336	c.89112A>G	c.(89110-89112)atA>atG	p.I29704M	TTN-AS1_ENST00000438095.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I22405M|TTN_ENST00000460472.2_Missense_Mutation_p.I22280M|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I22472M|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I31345M|TTN_ENST00000342992.6_Missense_Mutation_p.I28777M|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29704	Fibronectin type-III 116. {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)			GCTTTTCAACTATGTAATTAG	0.443																																						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.(94033-94035)atA>atG		titin							109	110	109					2																	179412318		1928	4136	6064	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179412318T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.89112A>G	2.37:g.179412318T>C	ENSP00000465570:p.Ile29704Met					TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I29704M|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I28777M|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I22472M|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I22280M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I22405M	p.I31345M	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	94259	-			29704			Fibronectin type-III 128.		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.94035A>G		.	.	.	.	.	.	.	.	.	.	T	12.73	2.024486	0.35701	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.92	0.211	0.15236	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70386	0.3218	M	0.87328	2.875	0.47183	D	0.999342	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.69273	-0.5188	9	0.87932	D	0	.	7.2934	0.26378	0.286:0.0:0.4249:0.2891	.	22280;22405;22472;29704	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	28777;22280;22472;22405;22277	ENSP00000343764:I28777M;ENSP00000434586:I22280M;ENSP00000340554:I22472M;ENSP00000352154:I22405M	ENSP00000340554:I22472M	I	-	3	3	TTN	179120564	0.996000	0.38824	1.000000	0.80357	0.995000	0.86356	0.461000	0.21940	0.085000	0.17107	0.533000	0.62120	ATA		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	87	0	0	0	0.115264	0	3	87					C	179412318	T	C	179412318	3	2	319	1	0	0	0	0	1	0	0	0	16732	1512	53	3	14040	3	TTN	2	179412318	Missense_Mutation	SNP	T	TCGA-EM-A3AR-01A-12D-A20C-08	83364938	179412318	63787055	3	6756											
RMND5B	64777	broad.mit.edu	37	chr5	177569910	177569912	+	In_Frame_Del	DEL	CAG	CAG	-													cggtgtgggacgcgcgggaaCagcagcagcagatcctgcag							TCGA-EM-A3AR-01A-12D-A20C-08	TCGA-EM-A3AR-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26896f50-4aff-406e-91d5-d18ada7ae17a	92d7e25d-a9de-49e2-800c-0ab703ae1582	g.chr5:177569910_177569912delCAG	ENST00000515098.1	+	6	694_696	c.343_345delCAG	c.(343-345)cagdel	p.Q118del	RMND5B_ENST00000542098.1_In_Frame_Del_p.Q105del|RMND5B_ENST00000313386.4_In_Frame_Del_p.Q118del			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	118	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.							p.Q115Q(1)		endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	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)			CGCGCGGGAACAGCAGCAGCAGA	0.616																																						ENST00000515098.1																			1	Substitution - coding silent(1)	p.Q115Q(1)	endometrium(1)	endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17						c.(343-345)del		required for meiotic nuclear division 5 homolog B (S. cerevisiae)																																				SO:0001651	inframe_deletion	64777							g.chr5:177569910_177569912delCAG	BC009911	CCDS4431.1, CCDS75382.1	5q35.3	2012-07-20			ENSG00000145916	ENSG00000145916			26181	protein-coding gene	gene with protein product	"GID complex subunit 2 homolog B"					12975309	Standard	NM_022762		Approved	FLJ22318, GID2, GID2B	uc003mim.3	Q96G75	OTTHUMG00000130897	ENST00000515098.1:c.343_345delCAG	5.37:g.177569919_177569921delCAG	ENSP00000420875:p.Gln118del					RMND5B_ENST00000313386.4_In_Frame_Del_p.Q118del|RMND5B_ENST00000542098.1_In_Frame_Del_p.Q105del	p.Q118del			Q96G75	RMD5B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	694_696	+	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	118			LisH.		Q1HE27|Q6UVY7|Q9H6F6	In_Frame_Del	DEL	ENST00000515098.1	37	c.343_345delCAG	CCDS4431.1																																																																																				0.616	RMND5B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373542.1	NM_022762		11	325						11	325	---	---	---	---	-	177569912	CAG	-	177569910	7	5	319	1	0	1	0	1	0	0	0	0	13398	479	17	0	353	0	RMND5B	5	177569910	In_Frame_Del	DEL	CAG	TCGA-EM-A3AR-01A-12D-A20C-08		177569910	3345350	4	6757											
ZMIZ2	83637	broad.mit.edu	37	chr7	44797683	44797683	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcccagccactgccccgacaGggggtcaagagaacctactc	11	16	1	1			TCGA-EM-A3AR-01A-12D-A20C-08	TCGA-EM-A3AR-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26896f50-4aff-406e-91d5-d18ada7ae17a	92d7e25d-a9de-49e2-800c-0ab703ae1582	g.chr7:44797683G>C	ENST00000309315.4	+	6	912	c.789G>C	c.(787-789)caG>caC	p.Q263H	ZMIZ2_ENST00000441627.1_Missense_Mutation_p.Q263H|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.Q231H|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.Q231H|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.Q263H	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	263	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						TGCCCCGACAGGGGGTCAAGA	0.612																																					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.(787-789)caG>caC		zinc finger, MIZ-type containing 2							53	55	54					7																	44797683		1859	4094	5953	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.chr7:44797683G>C	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.789G>C	7.37:g.44797683G>C	ENSP00000311778:p.Gln263His					ZMIZ2_ENST00000441627.1_Missense_Mutation_p.Q263H|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.Q231H|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.Q231H|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.Q263H	p.Q263H	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN			6	912	+			263			Pro-rich.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	ENST00000309315.4	37	c.789G>C	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344995	0.61073	.	.	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	4.52	-0.844	0.10741	.	0.000000	0.50627	D	0.000106	T	0.48409	0.1498	M	0.74881	2.28	0.45806	D	0.998685	D;D;D	0.89917	0.998;1.0;0.998	D;D;D	0.74023	0.967;0.982;0.967	T	0.47699	-0.9097	10	0.66056	D	0.02	-8.2212	9.6366	0.39811	0.594:0.0:0.406:0.0	.	263;263;231	Q8NF64-2;Q8NF64;Q8NF64-3	.;ZMIZ2_HUMAN;.	H	231;263;263;231;263;263	ENSP00000409648:Q231H;ENSP00000311778:Q263H;ENSP00000414723:Q263H;ENSP00000396601:Q231H;ENSP00000265346:Q263H	ENSP00000265346:Q263H	Q	+	3	2	ZMIZ2	44764208	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	1.306000	0.33505	-0.061000	0.13110	0.462000	0.41574	CAG		0.612	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		18	91	0	0	0	0.639603	0	18	91					C	44797683	G	C	44797683	3	2	319	1	0	0	0	0	1	0	0	0	17694	991	35	4	807	4	ZMIZ2	7	44797683	Missense_Mutation	SNP	G	TCGA-EM-A3AR-01A-12D-A20C-08		44797683	114340980	5	6758											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A3AR-01A-12D-A20C-08	TCGA-EM-A3AR-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26896f50-4aff-406e-91d5-d18ada7ae17a	92d7e25d-a9de-49e2-800c-0ab703ae1582	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		8	64	0	0	0	0.361761	0	8	64					T	140453136	A	T	140453136	3	4	319	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A3AR-01A-12D-A20C-08	95655453	140453136	18685527	6	6759											
COL27A1	85301	broad.mit.edu	37	chr9	116930153	116930153	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgctgagcctctgctcCcaccgggtgaaccatgcctt	11	15	1	2			TCGA-EM-A3AR-01A-12D-A20C-08	TCGA-EM-A3AR-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26896f50-4aff-406e-91d5-d18ada7ae17a	92d7e25d-a9de-49e2-800c-0ab703ae1582	g.chr9:116930153C>T	ENST00000356083.3	+	3	709	c.318C>T	c.(316-318)tcC>tcT	p.S106S		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	106	Laminin G-like.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCCTCTGCTCCCACCGGGTGA	0.662																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(316-318)tcC>tcT		collagen, type XXVII, alpha 1							64	66	65					9																	116930153		2203	4300	6503	SO:0001819	synonymous_variant	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116930153C>T	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.318C>T	9.37:g.116930153C>T							p.S106S	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			3	709	+			106			Laminin G-like.|TSP N-terminal.		Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	c.318C>T	CCDS6802.1																																																																																				0.662	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		24	129	0	0	0	0.681144	0	24	129					T	116930153	C	T	116930153	2	4	319	1	0	0	0	0	0	0	0	1	3685	610	22	2		2	COL27A1	9	116930153	Silent	SNP	C	TCGA-EM-A3AR-01A-12D-A20C-08		116930153	24283278	7	6760											
LRP1	4035	broad.mit.edu	37	chr12	57605751	57605751	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctctgctgttgctgctgctgCtggttctggtggccggagtg	16	10	2	0			TCGA-EM-A3AR-01A-12D-A20C-08	TCGA-EM-A3AR-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26896f50-4aff-406e-91d5-d18ada7ae17a	92d7e25d-a9de-49e2-800c-0ab703ae1582	g.chr12:57605751C>G	ENST00000243077.3	+	87	13766	c.13300C>G	c.(13300-13302)Ctg>Gtg	p.L4434V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4434					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)	GCTGCTGCTGCTGGTTCTGGT	0.547																																						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.(13300-13302)Ctg>Gtg		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						167	144	152					12																	57605751		2203	4300	6503	SO:0001583	missense	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.chr12:57605751C>G	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.13300C>G	12.37:g.57605751C>G	ENSP00000243077:p.Leu4434Val						p.L4434V	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	87	13766	+			4434					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.13300C>G	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.353405	0.24512	.	.	ENSG00000123384	ENST00000243077	T	0.49720	0.77	4.43	-1.01	0.10169	.	0.837651	0.09715	N	0.765158	T	0.30823	0.0777	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.08432	-1.0722	10	0.24483	T	0.36	.	11.6529	0.51299	0.202:0.3947:0.4032:0.0	.	4434	Q07954	LRP1_HUMAN	V	4434	ENSP00000243077:L4434V	ENSP00000243077:L4434V	L	+	1	2	LRP1	55892018	0.770000	0.28543	0.949000	0.38748	0.629000	0.37895	-0.105000	0.10907	-0.792000	0.04480	-1.268000	0.01426	CTG		0.547	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		4	225	0	0	0	0.184627	0	4	225					G	57605751	C	G	57605751	3	3	319	1	0	0	0	0	1	0	0	0	8951	796	28	4	13646	4	LRP1	12	57605751	Missense_Mutation	SNP	C	TCGA-EM-A3AR-01A-12D-A20C-08		57605751	76246144	8	6761											
SKA3	221150	broad.mit.edu	37	chr13	21729267	21729267	+	3'UTR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattttgttcagtttctgtGttggatagatccactggaat	9	6	3	1	rs11147977	byFrequency	TCGA-EM-A3AR-01A-12D-A20C-08	TCGA-EM-A3AR-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26896f50-4aff-406e-91d5-d18ada7ae17a	92d7e25d-a9de-49e2-800c-0ab703ae1582	g.chr13:21729267G>A	ENST00000314759.5	-	0	1385				SKA3_ENST00000400018.3_Missense_Mutation_p.T381I	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3						chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CAGTTTCTGTGTTGGATAGAT	0.363																																						ENST00000400018.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1141-1143)aCa>aTa		spindle and kinetochore associated complex subunit 3							141	146	144					13																	21729267		2202	4300	6502	SO:0001624	3_prime_UTR_variant	221150				cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding	g.chr13:21729267G>A	AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480			20262	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 3"	C13orf3		19387489, 19289083, 19646878, 19360002	Standard	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000314759.5:c.*22C>T	13.37:g.21729267G>A						SKA3_ENST00000314759.5_3'UTR	p.T381I	NM_001166017.1	NP_001159489.1	Q8IX90	SKA3_HUMAN			8	1211	-			0					A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Missense_Mutation	SNP	ENST00000314759.5	37	c.1142C>T	CCDS31946.1	234	0.10714285714285714	10	0.02032520325203252	48	0.13259668508287292	96	0.16783216783216784	80	0.10554089709762533	A	1.991	-0.431860	0.04669	.	.	ENSG00000165480	ENST00000400018	T	0.22945	1.93	4.07	-0.905	0.10527	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30357	-0.9981	8	0.41790	T	0.15	.	4.7384	0.13001	0.4657:0.1694:0.365:0.0	rs11147977;rs52815571;rs61114986;rs11147977	381	Q8IX90-3	.	I	381	ENSP00000382896:T381I	ENSP00000382896:T381I	T	-	2	0	SKA3	20627267	0.001000	0.12720	0.000000	0.03702	0.014000	0.08584	0.200000	0.17257	-0.416000	0.07473	-0.893000	0.02921	ACA		0.363	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000272912.1	NM_145061		5	33	0	0	0	0.217242	0	5	33					A	21729267	G	A	21729267	1	1	319	0	1	0	0	0	0	0	0	0	14354	1377	48	2		2	SKA3	13	21729267	3'UTR	SNP	G	TCGA-EM-A3AR-01A-12D-A20C-08		21729267	93440611	9	6762											
MYLK3	91807	broad.mit.edu	37	chr16	46764581	46764581	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gacgctcactacccggtgttCaaaaggagctggtggggccg	15	11	2	0			TCGA-EM-A3AR-01A-12D-A20C-08	TCGA-EM-A3AR-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26896f50-4aff-406e-91d5-d18ada7ae17a	92d7e25d-a9de-49e2-800c-0ab703ae1582	g.chr16:46764581C>A	ENST00000394809.4	-	5	1607	c.1492G>T	c.(1492-1494)Gaa>Taa	p.E498*	MYLK3_ENST00000536476.1_Nonsense_Mutation_p.E157*	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	498					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				ACCCGGTGTTCAAAAGGAGCT	0.597																																						ENST00000394809.4																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37						c.(1492-1494)Gaa>Taa		myosin light chain kinase 3							135	120	125					16																	46764581		2203	4300	6503	SO:0001587	stop_gained	91807				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr16:46764581C>A	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"MLC kinase"	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.1492G>T	16.37:g.46764581C>A	ENSP00000378288:p.Glu498*					MYLK3_ENST00000536476.1_Nonsense_Mutation_p.E157*	p.E498*	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN			5	1607	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	498					B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Nonsense_Mutation	SNP	ENST00000394809.4	37	c.1492G>T	CCDS10723.2	.	.	.	.	.	.	.	.	.	.	C	38	6.910757	0.97928	.	.	ENSG00000140795	ENST00000394809;ENST00000536476	.	.	.	5.26	5.26	0.73747	.	0.000000	0.36703	N	0.002449	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	11.1771	0.48606	0.0:0.914:0.0:0.086	.	.	.	.	X	498;157	.	ENSP00000378288:E498X	E	-	1	0	MYLK3	45322082	0.967000	0.33354	1.000000	0.80357	0.817000	0.46193	2.325000	0.43840	2.452000	0.82932	0.591000	0.81541	GAA		0.597	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493		5	178	1	0	0.0293803	0.248553	0.0310126	5	178					A	46764581	C	A	46764581	4	1	319	1	0	0	0	0	0	1	0	0	10058	835	29	4	1003	4	MYLK3	16	46764581	Nonsense_Mutation	SNP	C	TCGA-EM-A3AR-01A-12D-A20C-08		46764581	43590172	10	6763											
EME1	146956	broad.mit.edu	37	chr17	48458218	48458218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgacatccacttctcgccGcattggaccagaactatcca	7	14	1	2			TCGA-EM-A3AR-01A-12D-A20C-08	TCGA-EM-A3AR-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26896f50-4aff-406e-91d5-d18ada7ae17a	92d7e25d-a9de-49e2-800c-0ab703ae1582	g.chr17:48458218G>A	ENST00000338165.4	+	9	1713	c.1631G>A	c.(1630-1632)cGc>cAc	p.R544H	EME1_ENST00000393271.2_Missense_Mutation_p.R557H|EME1_ENST00000511648.2_Missense_Mutation_p.R557H	NM_152463.2	NP_689676.2	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	544					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			ACTTCTCGCCGCATTGGACCA	0.498								Direct reversal of damage;Homologous recombination																														ENST00000393271.2																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19						c.(1669-1671)cGc>cAc	Direct reversal of damage;Homologous recombination	essential meiotic structure-specific endonuclease 1							185	156	165					17																	48458218		2203	4300	6503	SO:0001583	missense	146956				DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding	g.chr17:48458218G>A	BC016470	CCDS11565.1, CCDS54141.1	17q21.33	2013-07-03	2013-07-03			ENSG00000154920			24965	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog A (S. cerevisiae)"	610885	"essential meiotic endonuclease 1 homolog 1 (S. pombe)"			12721304	Standard	NM_001166131		Approved	FLJ31364, MMS4L, SLX2A	uc010dbp.2	Q96AY2		ENST00000338165.4:c.1631G>A	17.37:g.48458218G>A	ENSP00000339897:p.Arg544His					EME1_ENST00000338165.4_Missense_Mutation_p.R544H|EME1_ENST00000511648.2_Missense_Mutation_p.R557H	p.R557H	NM_001166131.1	NP_001159603.1	Q96AY2	EME1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.43e-08)		9	1752	+	Breast(11;5.62e-19)		544					Q96N62	Missense_Mutation	SNP	ENST00000338165.4	37	c.1670G>A	CCDS11565.1	.	.	.	.	.	.	.	.	.	.	G	33	5.226569	0.95173	.	.	ENSG00000154920	ENST00000338165;ENST00000393271;ENST00000511648	T;T;T	0.24538	1.88;1.85;1.85	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.59418	0.2192	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.62932	-0.6749	10	0.87932	D	0	-2.3293	20.3343	0.98733	0.0:0.0:1.0:0.0	.	557;544	Q96AY2-2;Q96AY2	.;EME1_HUMAN	H	544;557;557	ENSP00000339897:R544H;ENSP00000376952:R557H;ENSP00000421700:R557H	ENSP00000339897:R544H	R	+	2	0	EME1	45813217	1.000000	0.71417	0.937000	0.37676	0.752000	0.42762	7.239000	0.78182	2.822000	0.97130	0.650000	0.86243	CGC		0.498	EME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367118.3	NM_152463		4	129	0	0	0	0.248553	0	4	129					A	48458218	G	A	48458218	3	1	319	1	0	0	0	0	1	0	0	0	5088	1087	38	1	1700	1	EME1	17	48458218	Missense_Mutation	SNP	G	TCGA-EM-A3AR-01A-12D-A20C-08		48458218	32736992	11	6764											
TIMM44	10469	broad.mit.edu	37	chr19	7997808	7997810	+	In_Frame_Del	DEL	TCG	TCG	-													cgtcatacttcatcttcatcTcgaagaaccctgtggaagat					rs113419511		TCGA-EM-A3AR-01A-12D-A20C-08	TCGA-EM-A3AR-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26896f50-4aff-406e-91d5-d18ada7ae17a	92d7e25d-a9de-49e2-800c-0ab703ae1582	g.chr19:7997808_7997810delTCG	ENST00000270538.3	-	8	1045_1047	c.777_779delCGA	c.(775-780)ttcgag>ttg	p.259_260FE>L	TIMM44_ENST00000598968.1_5'Flank	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	259					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						CATCTTCATCTCGAAGAACCCTG	0.581																																						ENST00000270538.3																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						c.(775-780)ttg>tt		translocase of inner mitochondrial membrane 44 homolog (yeast)																																				SO:0001651	inframe_deletion	10469				protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr19:7997808_7997810delTCG	AF026030	CCDS12192.1	19p13.3-p13.2	2008-07-04				ENSG00000104980			17316	protein-coding gene	gene with protein product		605058				10848612, 10339406	Standard	NM_006351		Approved	TIM44	uc002miz.3	O43615		ENST00000270538.3:c.777_779delCGA	19.37:g.7997808_7997810delTCG	ENSP00000270538:p.Phe259_Glu260delinsLeu						p.FE259del	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN			8	1045_1047	-			259					A8K0R9|D6W664|Q8N193	In_Frame_Del	DEL	ENST00000270538.3	37	c.777_779delCGA	CCDS12192.1																																																																																				0.581	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461596.3			11	65						11	65	---	---	---	---	-	7997810	TCG	-	7997808	7	5	319	1	0	1	0	1	0	0	0	0	15909	1551	54	0	603	0	TIMM44	19	7997808	In_Frame_Del	DEL	TCG	TCGA-EM-A3AR-01A-12D-A20C-08		7997808	51131175	12	6765											
PDZD11	51248	broad.mit.edu	37	chrX	69508002	69508002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctagctgggaggcctttcCtcctcggatgttaaatccca	10	13	0	0			TCGA-EM-A3AR-01A-12D-A20C-08	TCGA-EM-A3AR-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26896f50-4aff-406e-91d5-d18ada7ae17a	92d7e25d-a9de-49e2-800c-0ab703ae1582	g.chrX:69508002C>T	ENST00000239666.4	-	4	325	c.193G>A	c.(193-195)Gga>Aga	p.G65R	PDZD11_ENST00000374454.1_Missense_Mutation_p.G65R|KIF4A_ENST00000374403.3_5'Flank|PDZD11_ENST00000473667.1_5'UTR|KIF4A_ENST00000374388.3_5'Flank	NM_016484.4	NP_057568.1	Q5EBL8	PDZ11_HUMAN	PDZ domain containing 11	65	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)	protein C-terminus binding (GO:0008022)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)	9						GAGGCCTTTCCTCCTCGGATG	0.438																																						ENST00000239666.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)	9						c.(193-195)Gga>Aga		PDZ domain containing 11							45	39	41					X																	69508002		2203	4300	6503	SO:0001583	missense	51248					basolateral plasma membrane|cytosol|extracellular region	protein C-terminus binding	g.chrX:69508002C>T	AF151061	CCDS14400.1	Xq13.1	2008-02-05		2006-01-24	ENSG00000120509	ENSG00000120509			28034	protein-coding gene	gene with protein product		300632		PDZK11		11042152, 12975309	Standard	NM_016484		Approved		uc004dyd.1	Q5EBL8	OTTHUMG00000021771	ENST00000239666.4:c.193G>A	X.37:g.69508002C>T	ENSP00000239666:p.Gly65Arg					PDZD11_ENST00000374454.1_Missense_Mutation_p.G65R|PDZD11_ENST00000473667.1_5'UTR	p.G65R	NM_016484.4	NP_057568.1	Q5EBL8	PDZ11_HUMAN			4	325	-			65			PDZ.		D3DVU3|Q6UWE1|Q9P0Q1	Missense_Mutation	SNP	ENST00000239666.4	37	c.193G>A	CCDS14400.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737115	0.89482	.	.	ENSG00000120509	ENST00000239666;ENST00000374454	T;T	0.27104	1.69;1.69	5.14	5.14	0.70334	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.57681	0.2070	M	0.87456	2.885	0.80722	D	1	D;P	0.89917	1.0;0.878	D;P	0.97110	1.0;0.567	T	0.65928	-0.6049	10	0.87932	D	0	.	16.6597	0.85238	0.0:1.0:0.0:0.0	.	96;65	Q5EBL8-2;Q5EBL8	.;PDZ11_HUMAN	R	65	ENSP00000239666:G65R;ENSP00000363578:G65R	ENSP00000239666:G65R	G	-	1	0	PDZD11	69424727	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.890000	0.75633	2.397000	0.81536	0.596000	0.82720	GGA		0.438	PDZD11-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057060.1	NM_016484		3	21	0	0	0	0.150653	0	3	21					T	69508002	C	T	69508002	3	4	319	1	0	0	0	0	1	0	0	0	11700	690	24	2	245	2	PDZD11	23	69508002	Missense_Mutation	SNP	C	TCGA-EM-A3AR-01A-12D-A20C-08		69508002	85762558	13	6766											
PHF14	9678	broad.mit.edu	37	chr7	11022691	11022693	+	In_Frame_Del	DEL	AAG	AAG	-													ctgccagtgaagggggttgcAagaagaagaagagtaaagtt					rs375256340		TCGA-EM-A3FJ-01A-11D-A21A-08	TCGA-EM-A3FJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c70333f-3776-4588-8890-192dc5d8b2f0	f6afff5d-9375-44a5-b67e-b82c0a4a6310	g.chr7:11022691_11022693delAAG	ENST00000403050.3	+	3	1257_1259	c.805_807delAAG	c.(805-807)aagdel	p.K272del	PHF14_ENST00000445996.2_Intron	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	272					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		AGGGGGTTGCAAGAAGAAGAAGA	0.448																																						ENST00000403050.3																			0				NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35						c.(805-807)del		PHD finger protein 14																																				SO:0001651	inframe_deletion	9678						zinc ion binding	g.chr7:11022691_11022693delAAG	AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"Zinc fingers, PHD-type"	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.805_807delAAG	7.37:g.11022700_11022702delAAG	ENSP00000385795:p.Lys272del					PHF14_ENST00000445996.2_Intron	p.K272del	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.205)	3	1257_1259	+			272					A7MCZ3|B4DI82	In_Frame_Del	DEL	ENST00000403050.3	37	c.805_807delAAG	CCDS47542.1																																																																																				0.448	PHF14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318212.1	NM_014660		2	4						2	4	---	---	---	---	-	11022693	AAG	-	11022691	7	5	320	1	0	1	0	1	0	0	0	0	11825	131	5	0	815	0	PHF14	7	11022691	In_Frame_Del	DEL	AAG	TCGA-EM-A3FJ-01A-11D-A21A-08		11022691	148115972	1	6767											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A3FJ-01A-11D-A21A-08	TCGA-EM-A3FJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c70333f-3776-4588-8890-192dc5d8b2f0	f6afff5d-9375-44a5-b67e-b82c0a4a6310	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		14	13	0	0	0	1	0	14	13					T	140453136	A	T	140453136	3	4	320	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A3FJ-01A-11D-A21A-08	129430445	140453136	18685527	2	6768											
CNOT2	4848	broad.mit.edu	37	chr12	70723333	70723333	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaacaatgtcacttcacacGcctccatctccaagcaggta	5	16	3	0			TCGA-EM-A3FJ-01A-11D-A21A-08	TCGA-EM-A3FJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c70333f-3776-4588-8890-192dc5d8b2f0	f6afff5d-9375-44a5-b67e-b82c0a4a6310	g.chr12:70723333G>T	ENST00000418359.3	+	6	820	c.369G>T	c.(367-369)acG>acT	p.T123T	CNOT2_ENST00000229195.3_Silent_p.T123T|CNOT2_ENST00000548230.1_3'UTR	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	123					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			CACTTCACACGCCTCCATCTC	0.398																																						ENST00000229195.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20						c.(367-369)acG>acT		CCR4-NOT transcription complex, subunit 2							128	118	122					12																	70723333		2203	4300	6503	SO:0001819	synonymous_variant	4848				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	g.chr12:70723333G>T	AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.369G>T	12.37:g.70723333G>T						CNOT2_ENST00000418359.3_Silent_p.T123T|CNOT2_ENST00000548230.1_3'UTR	p.T123T	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		5	948	+	Renal(347;0.236)		123					Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Silent	SNP	ENST00000418359.3	37	c.369G>T	CCDS31857.1																																																																																				0.398	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1			3	47	1	0	1	1	1	3	47					T	70723333	G	T	70723333	2	4	320	1	0	0	0	0	0	0	0	1	3619	1074	38	4		4	CNOT2	12	70723333	Silent	SNP	G	TCGA-EM-A3FJ-01A-11D-A21A-08		70723333	63128562	3	6769											
EP400	57634	broad.mit.edu	37	chr12	132537935	132537935	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagccggccgtggcccagccAcccccgccccagccgcagcc	11	24	0	0			TCGA-EM-A3FJ-01A-11D-A21A-08	TCGA-EM-A3FJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c70333f-3776-4588-8890-192dc5d8b2f0	f6afff5d-9375-44a5-b67e-b82c0a4a6310	g.chr12:132537935A>C	ENST00000333577.4	+	44	7738	c.7629A>C	c.(7627-7629)ccA>ccC	p.P2543P	EP400_ENST00000330386.6_Silent_p.P2426P|EP400_ENST00000389562.2_Silent_p.P2506P|EP400_ENST00000389561.2_Silent_p.P2507P|EP400_ENST00000332482.4_Silent_p.P2470P			Q96L91	EP400_HUMAN	E1A binding protein p400	2543	Interaction with ZNF42. {ECO:0000250}.|Poly-Pro.				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)			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)		TGGCCCAgccacccccgcccc	0.731																																						ENST00000333577.4																			0				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.(7627-7629)ccA>ccC		E1A binding protein p400																																				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.chr12:132537935A>C	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.7629A>C	12.37:g.132537935A>C						EP400_ENST00000389561.2_Silent_p.P2507P|EP400_ENST00000389562.2_Silent_p.P2506P|EP400_ENST00000332482.4_Silent_p.P2470P|EP400_ENST00000330386.6_Silent_p.P2426P	p.P2543P			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	44	7738	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2543			Interaction with ZNF42 (By similarity).|Poly-Pro.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.7629A>C																																																																																					0.731	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		5	21	0	0	0	1	0	5	21					C	132537935	A	C	132537935	2	2	320	1	0	0	0	0	0	0	0	1	5149	146	6	5		5	EP400	12	132537935	Silent	SNP	A	TCGA-EM-A3FJ-01A-11D-A21A-08	61814602	132537935	1313960	4	6770											
TBKBP1	9755	broad.mit.edu	37	chr17	45786123	45786124	+	Frame_Shift_Ins	INS	-	-	C													gccgctgtcacaacgccactINSccccggccccccagtgcccc							TCGA-EM-A3FJ-01A-11D-A21A-08	TCGA-EM-A3FJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c70333f-3776-4588-8890-192dc5d8b2f0	f6afff5d-9375-44a5-b67e-b82c0a4a6310	g.chr17:45786123_45786124insC	ENST00000361722.3	+	8	1873_1874	c.1024_1025insC	c.(1024-1026)tccfs	p.S342fs		NM_014726.2	NP_055541.1			TBK1 binding protein 1											endometrium(5)|kidney(1)|lung(1)	7						ACAACGCCACTCCCCGGCCCCC	0.738																																						ENST00000361722.3																			0				endometrium(5)|kidney(1)|lung(1)	7						c.(1024-1026)cccfs		TBK1 binding protein 1																																				SO:0001589	frameshift_variant	9755				innate immune response			g.chr17:45786123_45786124insC	AB018318	CCDS45722.1	17q21.32	2012-05-17				ENSG00000198933			30140	protein-coding gene	gene with protein product		608476				14743216, 19481056	Standard	NM_014726		Approved	ProSAPiP2, KIAA0775	uc002ilu.3	A7MCY6		ENST00000361722.3:c.1028dupC	17.37:g.45786127_45786127dupC	ENSP00000354777:p.Ser342fs						p.P342fs	NM_014726.2	NP_055541.1	A7MCY6	TBKB1_HUMAN			8	1873_1874	+			342						Frame_Shift_Ins	INS	ENST00000361722.3	37	c.1024_1025insC	CCDS45722.1																																																																																				0.738	TBKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441363.1	NM_014726		2	4						2	4	---	---	---	---	C	45786124	-	C	45786123	7	5	320	1	0	1	1	0	0	0	0	0	15635	1551	54	0	1054	0	TBKBP1	17	45786123	Frame_Shift_Ins	INS	-	TCGA-EM-A3FJ-01A-11D-A21A-08		45786123	35409087	5	6771											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	9	17	2	0	rs145580328		TCGA-EM-A3FJ-01A-11D-A21A-08	TCGA-EM-A3FJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c70333f-3776-4588-8890-192dc5d8b2f0	f6afff5d-9375-44a5-b67e-b82c0a4a6310	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51	56	55					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		4	147	0	0	0	1	0	4	147					G	37028425	A	G	37028425	3	3	320	1	0	0	0	0	1	0	0	0	5571	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-EM-A3FJ-01A-11D-A21A-08		37028425	118242135	6	6772											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A3FK-01A-11D-A21A-08	TCGA-EM-A3FK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5	23e0a545-3e41-486a-90d1-cc3d672e4a24	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		11	24	0	0	0	1	0	11	24					T	140453136	A	T	140453136	3	4	321	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A3FK-01A-11D-A21A-08		140453136	18685527	1	6773											
CAMSAP1	157922	broad.mit.edu	37	chr9	138713116	138713116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggaagggtctcaagtgcgGgagcgtctctacactgggcg	17	9	2	0			TCGA-EM-A3FK-01A-11D-A21A-08	TCGA-EM-A3FK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5	23e0a545-3e41-486a-90d1-cc3d672e4a24	g.chr9:138713116G>A	ENST00000389532.4	-	11	3455	c.3391C>T	c.(3391-3393)Ccg>Tcg	p.P1131S	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.P1142S|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.P853S	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1131					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CTCAAGTGCGGGAGCGTCTCT	0.647																																						ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(3391-3393)Ccg>Tcg		calmodulin regulated spectrin-associated protein 1							48	61	57					9																	138713116		2202	4296	6498	SO:0001583	missense	157922					cytoplasm|microtubule		g.chr9:138713116G>A	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.3391C>T	9.37:g.138713116G>A	ENSP00000374183:p.Pro1131Ser					CAMSAP1_ENST00000409386.3_Missense_Mutation_p.P1142S|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.P853S|CAMSAP1_ENST00000483991.1_5'UTR	p.P1131S	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	11	3455	-			1131					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	c.3391C>T	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	G	16.25	3.068944	0.55539	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.32753	1.46;1.44;1.45	5.29	3.39	0.38822	.	0.104870	0.64402	D	0.000002	T	0.54679	0.1873	M	0.81942	2.565	0.52501	D	0.999959	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.993	T	0.57510	-0.7799	10	0.87932	D	0	-3.4478	10.6908	0.45870	0.0722:0.1331:0.7947:0.0	.	1131;1142	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	S	1131;853;1142	ENSP00000374183:P1131S;ENSP00000312463:P853S;ENSP00000386420:P1142S	ENSP00000312463:P853S	P	-	1	0	CAMSAP1	137852937	1.000000	0.71417	0.109000	0.21407	0.864000	0.49448	4.095000	0.57728	0.677000	0.31305	0.561000	0.74099	CCG		0.647	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		3	46	0	0	0	1	0	3	46					A	138713116	G	A	138713116	3	1	321	1	0	0	0	0	1	0	0	0	2611	1232	43	2	1445	2	CAMSAP1	9	138713116	Missense_Mutation	SNP	G	TCGA-EM-A3FK-01A-11D-A21A-08		138713116	2500315	2	6774											
LRP1	4035	broad.mit.edu	37	chr12	57563020	57563020	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggcgttgcatccccgagcaCtggacctgcgatggggacaa	15	12	0	0			TCGA-EM-A3FK-01A-11D-A21A-08	TCGA-EM-A3FK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5	23e0a545-3e41-486a-90d1-cc3d672e4a24	g.chr12:57563020C>G	ENST00000243077.3	+	20	3559	c.3093C>G	c.(3091-3093)caC>caG	p.H1031Q	LRP1_ENST00000553446.1_3'UTR	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1031	LDL-receptor class A 7. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)	TCCCCGAGCACTGGACCTGCG	0.612																																						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.(3091-3093)caC>caG		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						75	63	67					12																	57563020		2203	4300	6503	SO:0001583	missense	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.chr12:57563020C>G	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.3093C>G	12.37:g.57563020C>G	ENSP00000243077:p.His1031Gln					LRP1_ENST00000553446.1_3'UTR	p.H1031Q	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	20	3559	+			1031			LDL-receptor class A 7.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.3093C>G	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.363456	0.41902	.	.	ENSG00000123384	ENST00000243077	D	0.95137	-3.62	4.8	3.91	0.45181	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.186012	0.35677	N	0.003049	D	0.88224	0.6379	N	0.25332	0.735	0.80722	D	1	B	0.24576	0.106	B	0.28709	0.093	T	0.81435	-0.0934	10	0.13853	T	0.58	.	9.1931	0.37211	0.0:0.8241:0.0:0.1759	.	1031	Q07954	LRP1_HUMAN	Q	1031	ENSP00000243077:H1031Q	ENSP00000243077:H1031Q	H	+	3	2	LRP1	55849287	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	2.051000	0.41307	1.259000	0.44117	0.561000	0.74099	CAC		0.612	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		3	46	0	0	0	1	0	3	46					G	57563020	C	G	57563020	3	3	321	1	0	0	0	0	1	0	0	0	8951	564	20	4	3171	4	LRP1	12	57563020	Missense_Mutation	SNP	C	TCGA-EM-A3FK-01A-11D-A21A-08		57563020	76288875	3	6775											
MGAT2	4247	broad.mit.edu	37	chr14	50088451	50088451	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtcatctttagccatgacttCtggtcgaccgagatcaatca	8	11	5	2			TCGA-EM-A3FK-01A-11D-A21A-08	TCGA-EM-A3FK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5	23e0a545-3e41-486a-90d1-cc3d672e4a24	g.chr14:50088451C>G	ENST00000305386.2	+	1	963	c.465C>G	c.(463-465)ttC>ttG	p.F155L	RPL36AL_ENST00000298289.6_5'Flank|RP11-649E7.5_ENST00000555043.1_RNA	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	155					cellular protein metabolic process (GO:0044267)|oligosaccharide biosynthetic process (GO:0009312)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0008455)|carbohydrate binding (GO:0030246)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					GCCATGACTTCTGGTCGACCG	0.512																																						ENST00000305386.2																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11						c.(463-465)ttC>ttG		mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase							88	97	94					14																	50088451		2203	4300	6503	SO:0001583	missense	4247				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity	g.chr14:50088451C>G	U15128	CCDS9690.1	14q21	2013-02-25			ENSG00000168282	ENSG00000168282	2.4.1.143	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7045	protein-coding gene	gene with protein product		602616				7635144	Standard	NM_002408		Approved	GNT-II	uc001wwr.3	Q10469	OTTHUMG00000140271	ENST00000305386.2:c.465C>G	14.37:g.50088451C>G	ENSP00000307423:p.Phe155Leu					RP11-649E7.5_ENST00000555043.1_RNA	p.F155L	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN			1	963	+	all_epithelial(31;0.0021)|Breast(41;0.0124)		155					B3KPC5|B3KQM0	Missense_Mutation	SNP	ENST00000305386.2	37	c.465C>G	CCDS9690.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.609644	0.46527	.	.	ENSG00000168282	ENST00000305386;ENST00000504161	D	0.84873	-1.91	6.0	1.68	0.24146	.	0.345329	0.34652	N	0.003799	D	0.83575	0.5284	M	0.66939	2.045	0.33942	D	0.643409	P	0.34909	0.475	B	0.44044	0.439	T	0.80348	-0.1420	10	0.23891	T	0.37	-5.137	7.2141	0.25949	0.0:0.5396:0.1184:0.3419	.	155	Q10469	MGAT2_HUMAN	L	155;161	ENSP00000307423:F155L	ENSP00000307423:F155L	F	+	3	2	MGAT2	49158201	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	0.954000	0.29175	0.453000	0.26858	0.555000	0.69702	TTC		0.512	MGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276807.1	NM_002408		3	71	0	0	0	1	0	3	71					G	50088451	C	G	50088451	3	3	321	1	0	0	0	0	1	0	0	0	9543	912	32	4	467	4	MGAT2	14	50088451	Missense_Mutation	SNP	C	TCGA-EM-A3FK-01A-11D-A21A-08		50088451	57261089	4	6776											
CES8	283848	broad.mit.edu	37	chr16	67036990	67036990	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagatgatgtcacccctagcCtcgggtctcttccatcgggc	10	15	2	2	rs574058890		TCGA-EM-A3FK-01A-11D-A21A-08	TCGA-EM-A3FK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5	23e0a545-3e41-486a-90d1-cc3d672e4a24	g.chr16:67036990C>G	ENST00000326686.5	+	6	708	c.708C>G	c.(706-708)gcC>gcG	p.A236A	CES4A_ENST00000535696.1_Silent_p.A142A|CES4A_ENST00000540579.1_Silent_p.A138A|CES4A_ENST00000338718.4_Silent_p.A259A|CES4A_ENST00000541479.1_Silent_p.A259A|CES4A_ENST00000398354.1_Silent_p.A236A|CES4A_ENST00000540947.2_Silent_p.A236A			Q5XG92	EST4A_HUMAN	carboxylesterase 4A	236						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						CACCCCTAGCCTCGGGTCTCT	0.552													C|||	1	0.000199681	0	0	5008	,	,		21160	0		0	False		,,,				2504	0.001					ENST00000540947.2																			0				large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						c.(706-708)gcC>gcG		carboxylesterase 4A							110	108	109					16																	67036990		1970	4154	6124	SO:0001819	synonymous_variant	283848					extracellular region	carboxylesterase activity	g.chr16:67036990C>G	AK094783	CCDS42174.1, CCDS42174.2, CCDS54024.1, CCDS54025.1, CCDS42174.3	16q22.1	2011-10-25	2010-10-12	2010-10-12	ENSG00000172824	ENSG00000172824		"Carboxylesterases"	26741	protein-coding gene	gene with protein product			"carboxylesterase 8 (putative)"	CES8		12975309, 17364878, 20931200	Standard	NM_001190201		Approved	FLJ37464	uc010vix.2	Q5XG92		ENST00000326686.5:c.708C>G	16.37:g.67036990C>G						CES4A_ENST00000541479.1_Silent_p.A259A|CES4A_ENST00000540579.1_Silent_p.A138A|CES4A_ENST00000398354.1_Silent_p.A236A|CES4A_ENST00000535696.1_Silent_p.A142A|CES4A_ENST00000326686.5_Silent_p.A236A|CES4A_ENST00000338718.4_Silent_p.A259A	p.A236A	NM_173815.6	NP_776176.5	Q5XG92	EST4A_HUMAN			6	892	+			236					A8KAJ6|B7Z349|B7Z3L2|B7Z6R3|Q6UX55|Q8N9F4	Silent	SNP	ENST00000326686.5	37	c.708C>G																																																																																					0.552	CES4A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173815		27	51	0	0	0	1	0	27	51					G	67036990	C	G	67036990	2	3	321	1	0	0	0	0	0	0	0	1	3273	668	24	4		4	CES8	16	67036990	Silent	SNP	C	TCGA-EM-A3FK-01A-11D-A21A-08		67036990	23317763	5	6777											
PITPNA	5306	broad.mit.edu	37	chr17	1456343	1456343	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtactggcctttctcaccgTccttctcgtagggctcattc	8	14	3	0			TCGA-EM-A3FK-01A-11D-A21A-08	TCGA-EM-A3FK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5	23e0a545-3e41-486a-90d1-cc3d672e4a24	g.chr17:1456343T>C	ENST00000313486.7	-	3	407	c.152A>G	c.(151-153)gAc>gGc	p.D51G	PITPNA_ENST00000539476.1_Missense_Mutation_p.D51G	NM_006224.3	NP_006215.1	Q00169	PIPNA_HUMAN	phosphatidylinositol transfer protein, alpha	51					axon guidance (GO:0007411)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)|phosphatidylcholine transporter activity (GO:0008525)|phosphatidylinositol transporter activity (GO:0008526)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)		TTTCTCACCGTCCTTCTCGTA	0.552																																						ENST00000313486.7																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(151-153)gAc>gGc		phosphatidylinositol transfer protein, alpha							182	183	183					17																	1456343		2099	4226	6325	SO:0001583	missense	5306				axon guidance|lipid metabolic process|visual perception	cytoplasm	phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding	g.chr17:1456343T>C	M73704	CCDS45563.1	17p13.3	2012-06-29	2003-05-09	2004-09-03	ENSG00000174238	ENSG00000174238			9001	protein-coding gene	gene with protein product		600174	"phosphotidylinositol transfer protein"	PITPN		8255295	Standard	NM_006224		Approved	VIB1A	uc021tnf.1	Q00169	OTTHUMG00000177779	ENST00000313486.7:c.152A>G	17.37:g.1456343T>C	ENSP00000316809:p.Asp51Gly					PITPNA_ENST00000539476.1_Missense_Mutation_p.D51G	p.D51G	NM_006224.3	NP_006215.1	Q00169	PIPNA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)	3	407	-			51						Missense_Mutation	SNP	ENST00000313486.7	37	c.152A>G	CCDS45563.1	.	.	.	.	.	.	.	.	.	.	T	16.18	3.049206	0.55110	.	.	ENSG00000174238	ENST00000539476;ENST00000313486	T;T	0.44083	0.93;0.93	6.16	6.16	0.99307	START-like domain (1);	0.100169	0.64402	D	0.000002	T	0.44435	0.1293	L	0.39147	1.195	0.58432	D	0.999996	P	0.36959	0.575	P	0.45377	0.478	T	0.20009	-1.0288	10	0.22706	T	0.39	.	15.9872	0.80168	0.0:0.0:0.0:1.0	.	51	Q00169	PIPNA_HUMAN	G	51	ENSP00000441869:D51G;ENSP00000316809:D51G	ENSP00000316809:D51G	D	-	2	0	PITPNA	1403093	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	8.038000	0.88943	2.367000	0.80283	0.528000	0.53228	GAC		0.552	PITPNA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438927.3			56	89	0	0	0	1	0	56	89					C	1456343	T	C	1456343	3	2	321	1	0	0	0	0	1	0	0	0	11947	1667	58	3	696	3	PITPNA	17	1456343	Missense_Mutation	SNP	T	TCGA-EM-A3FK-01A-11D-A21A-08		1456343	79738867	6	6778											
TRPV2	51393	broad.mit.edu	37	chr17	16338272	16338272	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgaggacccgtcaggggCaggtgtccctcgtgagtagc	17	10	1	2			TCGA-EM-A3FK-01A-11D-A21A-08	TCGA-EM-A3FK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5	23e0a545-3e41-486a-90d1-cc3d672e4a24	g.chr17:16338272C>A	ENST00000338560.7	+	14	2582	c.2183C>A	c.(2182-2184)gCa>gAa	p.A728E	TRPV2_ENST00000577397.1_Missense_Mutation_p.A298E	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	728					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCGTCAGGGGCAGGTGTCCCT	0.627																																						ENST00000338560.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(2182-2184)gCa>gAa		transient receptor potential cation channel, subfamily V, member 2							96	79	84					17																	16338272		2203	4300	6503	SO:0001583	missense	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16338272C>A	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.2183C>A	17.37:g.16338272C>A	ENSP00000342222:p.Ala728Glu					TRPV2_ENST00000577397.1_Missense_Mutation_p.A298E	p.A728E	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	14	2582	+			728					A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	ENST00000338560.7	37	c.2183C>A	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789307	0.31685	.	.	ENSG00000187688	ENST00000338560	D	0.87650	-2.28	4.98	1.52	0.23074	.	1.666260	0.04476	U	0.376888	T	0.71660	0.3366	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.60737	-0.7204	10	0.02654	T	1	-18.0312	7.8939	0.29695	0.3161:0.5299:0.1541:0.0	.	728	Q9Y5S1	TRPV2_HUMAN	E	728	ENSP00000342222:A728E	ENSP00000342222:A728E	A	+	2	0	TRPV2	16278997	0.000000	0.05858	0.003000	0.11579	0.551000	0.35334	0.098000	0.15189	0.555000	0.29079	0.655000	0.94253	GCA		0.627	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		12	27	1	0	4.3838e-07	1	4.65779e-07	12	27					A	16338272	C	A	16338272	3	1	321	1	0	0	0	0	1	0	0	0	16593	710	25	4	2233	4	TRPV2	17	16338272	Missense_Mutation	SNP	C	TCGA-EM-A3FK-01A-11D-A21A-08	14881929	16338272	64856938	7	6779											
RHBDD3	25807	broad.mit.edu	37	chr22	29656429	29656429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatctgctcatccaaggccGcccacatcggagtccctggg	11	16	2	0			TCGA-EM-A3FK-01A-11D-A21A-08	TCGA-EM-A3FK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5	23e0a545-3e41-486a-90d1-cc3d672e4a24	g.chr22:29656429G>A	ENST00000216085.7	-	6	1293	c.869C>T	c.(868-870)gCg>gTg	p.A290V	CTA-984G1.5_ENST00000433125.1_RNA	NM_012265.1	NP_036397.1	Q9Y3P4	RHBD3_HUMAN	rhomboid domain containing 3	290					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						ATCCAAGGCCGCCCACATCGG	0.672																																						ENST00000216085.7																			0				lung(1)|ovary(1)	2						c.(868-870)gCg>gTg		rhomboid domain containing 3							18	19	19					22																	29656429		2203	4300	6503	SO:0001583	missense	25807					integral to membrane	serine-type endopeptidase activity	g.chr22:29656429G>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.869C>T	22.37:g.29656429G>A	ENSP00000216085:p.Ala290Val						p.A290V	NM_012265.1	NP_036397.1	Q9Y3P4	RHBD3_HUMAN			6	1293	-			290					Q6I9X3|Q9UGQ7	Missense_Mutation	SNP	ENST00000216085.7	37	c.869C>T	CCDS13850.1	.	.	.	.	.	.	.	.	.	.	G	8.524	0.869444	0.17322	.	.	ENSG00000100263	ENST00000216085	T	0.23552	1.9	5.08	-1.12	0.09808	.	0.680702	0.13579	N	0.377479	T	0.19685	0.0473	L	0.57536	1.79	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.23368	-1.0190	10	0.46703	T	0.11	-6.7981	3.2562	0.06832	0.3304:0.0:0.3776:0.292	.	290	Q9Y3P4	RHBD3_HUMAN	V	290	ENSP00000216085:A290V	ENSP00000216085:A290V	A	-	2	0	RHBDD3	27986429	0.004000	0.15560	0.022000	0.16811	0.036000	0.12997	0.271000	0.18626	0.024000	0.15214	-0.833000	0.03075	GCG		0.672	RHBDD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321085.1	NM_012265		2	2	0	0	0	1	0	2	2					A	29656429	G	A	29656429	3	1	321	1	0	0	0	0	1	0	0	0	13318	1087	38	1	299	1	RHBDD3	22	29656429	Missense_Mutation	SNP	G	TCGA-EM-A3FK-01A-11D-A21A-08		29656429	21648137	8	6780											
MAPK8IP2	23542	broad.mit.edu	37	chr22	51044090	51044090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttccgtggcttcaacatgCgcacgggggagcgcggtgtg	18	10	1	0			TCGA-EM-A3FK-01A-11D-A21A-08	TCGA-EM-A3FK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5	23e0a545-3e41-486a-90d1-cc3d672e4a24	g.chr22:51044090C>T	ENST00000399908.2	+	5	1860	c.1144C>T	c.(1144-1146)Cgc>Tgc	p.R382C	MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.R353C|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.R382C|MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.R370C|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.R268C|MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.R647C	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	648	Necessary for interaction with FGF13.				behavioral fear response (GO:0001662)|dendrite morphogenesis (GO:0048813)|MAPK cascade (GO:0000165)|nonassociative learning (GO:0046958)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of signal transduction (GO:0009967)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of JNK cascade (GO:0046328)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of receptor activity (GO:0010469)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal complex assembly (GO:0007172)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|neuronal postsynaptic density (GO:0097481)	beta-amyloid binding (GO:0001540)|kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		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)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTTCAACATGCGCACGGGGGA	0.652																																						ENST00000399908.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(1144-1146)Cgc>Tgc		mitogen-activated protein kinase 8 interacting protein 2							37	47	43					22																	51044090		2137	4243	6380	SO:0001583	missense	23542				behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding	g.chr22:51044090C>T	AL021708	CCDS74886.1	22q13.33	2010-04-06			ENSG00000008735	ENSG00000008735			6883	protein-coding gene	gene with protein product	"islet-brain 2", "JNK-interacting protein 2"	607755	"PRKM8 interacting protein-like"	PRKM8IPL		10490659	Standard	NM_012324		Approved	IB2, JIP2	uc003bmy.3	Q13387	OTTHUMG00000150181	ENST00000399908.2:c.1144C>T	22.37:g.51044090C>T	ENSP00000382792:p.Arg382Cys					MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.R647C|MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.R370C|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.R382C|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.R353C|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.R268C	p.R382C	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	5	1860	+		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)	648					Q96G62|Q99771|Q9NZ59|Q9UKQ4	Missense_Mutation	SNP	ENST00000399908.2	37	c.1144C>T		.	.	.	.	.	.	.	.	.	.	C	13.85	2.361401	0.41801	.	.	ENSG00000008735	ENST00000399912;ENST00000329492;ENST00000442429;ENST00000341339;ENST00000399908;ENST00000008876	T;T;T;T;T;T	0.32753	2.31;2.31;2.31;2.31;2.31;1.44	5.15	1.64	0.23874	Src homology-3 domain (4);	0.055887	0.64402	D	0.000003	T	0.52208	0.1720	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69824	0.966;0.966	T	0.58301	-0.7660	9	0.87932	D	0	-11.7161	11.9461	0.52928	0.572:0.428:0.0:0.0	.	620;648	E7EQG6;Q13387	.;JIP2_HUMAN	C	382;647;370;268;382;353	ENSP00000382796:R382C;ENSP00000330572:R647C;ENSP00000404914:R370C;ENSP00000340015:R268C;ENSP00000382792:R382C;ENSP00000008876:R353C	ENSP00000008876:R353C	R	+	1	0	MAPK8IP2	49390956	1.000000	0.71417	0.996000	0.52242	0.019000	0.09904	0.963000	0.29293	0.671000	0.31185	-0.175000	0.13238	CGC		0.652	MAPK8IP2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000316731.2	NM_012324		4	21	0	0	0	1	0	4	21					T	51044090	C	T	51044090	3	4	321	1	0	0	0	0	1	0	0	0	9285	768	27	1	2057	1	MAPK8IP2	22	51044090	Missense_Mutation	SNP	C	TCGA-EM-A3FK-01A-11D-A21A-08	21387661	51044090	260476	9	6781											
SAGE1	55511	broad.mit.edu	37	chrX	134995047	134995047	+	Frame_Shift_Del	DEL	A	A	-													agaaaagttaagcacatgagAaaaagataattgtgttagtg							TCGA-EM-A3FK-01A-11D-A21A-08	TCGA-EM-A3FK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5	23e0a545-3e41-486a-90d1-cc3d672e4a24	g.chrX:134995047delA	ENST00000370709.3	+	19	2706	c.2706delA	c.(2704-2706)agafs	p.R902fs	SAGE1_ENST00000535938.1_Frame_Shift_Del_p.R902fs|SAGE1_ENST00000324447.3_Frame_Shift_Del_p.R902fs|SAGE1_ENST00000537770.1_Frame_Shift_Del_p.R526fs			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	902						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AGCACATGAGAAAAAGATAAT	0.368																																						ENST00000535938.1																			0				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(2704-2706)agfs		sarcoma antigen 1							38	33	34					X																	134995047		2203	4300	6503	SO:0001589	frameshift_variant	55511							g.chrX:134995047delA	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"cancer/testis antigen 14"	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.2706delA	X.37:g.134995047delA	ENSP00000359743:p.Arg902fs					SAGE1_ENST00000537770.1_Frame_Shift_Del_p.R526fs|SAGE1_ENST00000324447.3_Frame_Shift_Del_p.R902fs|SAGE1_ENST00000370709.3_Frame_Shift_Del_p.R902fs	p.R902fs	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN			20	2873	+	Acute lymphoblastic leukemia(192;0.000127)		902					Q5JNW0	Frame_Shift_Del	DEL	ENST00000370709.3	37	c.2706delA	CCDS14652.1																																																																																				0.368	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		2	4						2	4	---	---	---	---	-	134995047	A	-	134995047	7	5	321	1	0	1	0	1	0	0	0	0	13809	243	9	0	2780	0	SAGE1	23	134995047	Frame_Shift_Del	DEL	A	TCGA-EM-A3FK-01A-11D-A21A-08		134995047	20275513	10	6782											
BGN	633	broad.mit.edu	37	chrX	152770767	152770767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcagaacaacgacatctccGagctccgcaaggatgacttc	9	13	1	2	rs150272427	byFrequency	TCGA-EM-A3FK-01A-11D-A21A-08	TCGA-EM-A3FK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5	23e0a545-3e41-486a-90d1-cc3d672e4a24	g.chrX:152770767G>A	ENST00000331595.4	+	3	496	c.310G>A	c.(310-312)Gag>Aag	p.E104K	BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	104					blood vessel remodeling (GO:0001974)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|glycosaminoglycan binding (GO:0005539)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGACATCTCCGAGCTCCGCAA	0.617													G|||	7	0.0018543	0.0053	0	3775	,	,		12578	0		0	False		,,,				2504	0					ENST00000331595.4																			0				breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16						c.(310-312)Gag>Aag		biglycan		G	LYS/GLU	25,3810		0,18,7,1614,564	85	71	76		310	5.1	0.9	X	dbSNP_134	76	1,6727		0,1,0,2427,1872	yes	missense	BGN	NM_001711.4	56	0,19,7,4041,2436	AA,AG,A,GG,G		0.0149,0.6519,0.2461	probably-damaging	104/369	152770767	26,10537	2203	4300	6503	SO:0001583	missense	633					proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent	g.chrX:152770767G>A	AK092954	CCDS14721.1	Xq28	2008-02-05			ENSG00000182492	ENSG00000182492		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	1044	protein-coding gene	gene with protein product	"biglycan proteoglycan"	301870				1612609	Standard	NM_001711		Approved	DSPG1, SLRR1A	uc004fhr.2	P21810	OTTHUMG00000024205	ENST00000331595.4:c.310G>A	X.37:g.152770767G>A	ENSP00000327336:p.Glu104Lys					BGN_ENST00000480756.1_3'UTR|BGN_ENST00000370204.1_Missense_Mutation_p.E43K	p.E104K	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN			3	496	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		104					D3DWU3|P13247	Missense_Mutation	SNP	ENST00000331595.4	37	c.310G>A	CCDS14721.1	8	0.004822182037371911	5	0.0102880658436214	0	0.0	0	0.0	0	0.0	G	19.41	3.821752	0.71028	0.006519	1.49E-4	ENSG00000182492	ENST00000331595;ENST00000431891;ENST00000370204;ENST00000430380	T;D;T	0.83506	0.4;-1.73;0.4	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.81178	0.4768	N	0.20357	0.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86040	0.1519	10	0.66056	D	0.02	-31.3051	16.494	0.84223	0.0:0.0:1.0:0.0	.	104	P21810	PGS1_HUMAN	K	104;104;43;43	ENSP00000327336:E104K;ENSP00000402525:E104K;ENSP00000359223:E43K	ENSP00000327336:E104K	E	+	1	0	BGN	152423961	1.000000	0.71417	0.915000	0.36163	0.098000	0.18820	7.569000	0.82380	2.237000	0.73441	0.529000	0.55759	GAG		0.617	BGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060981.1	NM_001711		26	44	0	0	0	1	0	26	44					A	152770767	G	A	152770767	3	1	321	1	0	0	0	0	1	0	0	0	1418	1059	37	1	316	1	BGN	23	152770767	Missense_Mutation	SNP	G	TCGA-EM-A3FK-01A-11D-A21A-08	17775720	152770767	2499793	11	6783											
WNT4	54361	broad.mit.edu	37	chr1	22447975	22447975	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcactgtcctgtcacagccGcacttctccagctccccact	6	19	2	0			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr1:22447975G>A	ENST00000290167.6	-	3	451	c.408C>T	c.(406-408)tgC>tgT	p.C136C	WNT4_ENST00000542383.1_Silent_p.C81C	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN	wingless-type MMTV integration site family, member 4	136					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|embryonic epithelial tube formation (GO:0001838)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization to plasma membrane (GO:0090002)|female gonad development (GO:0008585)|female sex determination (GO:0030237)|immature T cell proliferation in thymus (GO:0033080)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|mammary gland epithelium development (GO:0061180)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric nephron morphogenesis (GO:0072273)|metanephric tubule formation (GO:0072174)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of gene expression (GO:0010629)|negative regulation of male gonad development (GO:2000019)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of testicular blood vessel morphogenesis (GO:0061369)|negative regulation of testosterone biosynthetic process (GO:2000225)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of wound healing (GO:0061045)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via MAPK cascade (GO:0038030)|oocyte development (GO:0048599)|paramesonephric duct development (GO:0061205)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cortisol biosynthetic process (GO:2000066)|positive regulation of dermatome development (GO:0061184)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of meiosis (GO:0045836)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|protein palmitoylation (GO:0018345)|regulation of cell-cell adhesion (GO:0022407)|renal vesicle formation (GO:0072033)|renal vesicle induction (GO:0072034)|smooth muscle cell differentiation (GO:0051145)|somatotropin secreting cell differentiation (GO:0060126)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TGTCACAGCCGCACTTCTCCA	0.672																																						ENST00000290167.6																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8						c.(406-408)tgC>tgT		wingless-type MMTV integration site family, member 4							74	71	72					1																	22447975		2203	4300	6503	SO:0001819	synonymous_variant	54361				adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|extracellular space|Golgi apparatus|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity	g.chr1:22447975G>A	AL031281	CCDS223.1	1p36.23-p35.1	2013-02-28			ENSG00000162552	ENSG00000162552		"Wingless-type MMTV integration sites", "Endogenous ligands"	12783	protein-coding gene	gene with protein product		603490				8168088	Standard	NM_030761		Approved	WNT-4	uc001bfs.4	P56705	OTTHUMG00000002894	ENST00000290167.6:c.408C>T	1.37:g.22447975G>A						WNT4_ENST00000542383.1_Silent_p.C81C	p.C136C	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	3	451	-		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	136					B4DJF9|Q5TZQ0|Q96T81|Q9BXF5|Q9H1J8|Q9UJM2	Silent	SNP	ENST00000290167.6	37	c.408C>T	CCDS223.1																																																																																				0.672	WNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008088.2			4	121	0	0	0	1	0	4	121					A	22447975	G	A	22447975	2	1	322	1	0	0	0	0	0	0	0	1	17387	1079	38	1		1	WNT4	1	22447975	Silent	SNP	G	TCGA-EM-A3FL-01A-11D-A21A-08		22447975	226802646	1	6784											
PCSK9	255738	broad.mit.edu	37	chr1	55505553	55505555	+	In_Frame_Del	DEL	CTG	CTG	-													ggtcctggtggccgctgccaCtgctgctgctgctgctgctg					rs67610340		TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr1:55505553_55505555delCTG	ENST00000302118.5	+	1	333_335	c.43_45delCTG	c.(43-45)ctgdel	p.L23del	PCSK9_ENST00000452118.2_In_Frame_Del_p.L23del|PCSK9_ENST00000543384.1_5'Flank	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	23			L -> LL (this polymoprhism seems to have a modifier effect on LDLR mutation and familial hypercholesterolemia). {ECO:0000269|PubMed:19319977, ECO:0000269|PubMed:22095935, ECO:0000269|Ref.4, ECO:0000269|Ref.5}.		apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.P14_L15insL(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						gccgctgccactgctgctgctgc	0.709																																					Pancreas(137;1454 1827 5886 22361 42375)	ENST00000302118.5																			2	Insertion - In frame(2)	p.P14_L15insL(2)	breast(1)|central_nervous_system(1)	NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						c.(43-45)del		proprotein convertase subtilisin/kexin type 9				61,2,537,84,3012		19,0,2,0,21,1,0,0,0,105,6,319,10,58,1307						0.2	0.0		dbSNP_130	10	61,21,797,190,6069		12,0,0,1,36,3,4,0,11,129,6,529,19,145,2674	no	codingComplex	PCSK9	NM_174936.3		31,0,2,1,57,4,4,0,11,234,12,848,29,203,3981	A1A1,A1A2,A1A3,A1A4,A1R,A2A2,A2A3,A2A4,A2R,A3A3,A3A4,A3R,A4A4,A4R,RR		14.9762,18.5065,16.1805				122,23,1334,274,9081				SO:0001651	inframe_deletion	255738				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	g.chr1:55505553_55505555delCTG	AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"hypercholesterolemia, autosomal dominant 3"	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.43_45delCTG	1.37:g.55505562_55505564delCTG	ENSP00000303208:p.Leu23del					PCSK9_ENST00000452118.2_In_Frame_Del_p.L23del	p.L23del	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN			1	333_335	+			23		L -> LL (this polymoprhism seems to have a modifier effect on LDLR mutation and familial hypercholesterolemia).			A8T640|C0JYY9|Q5PSM5|Q5SZQ2	In_Frame_Del	DEL	ENST00000302118.5	37	c.43_45delCTG	CCDS603.1																																																																																				0.709	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		2	4						2	4	---	---	---	---	-	55505555	CTG	-	55505553	7	5	322	1	0	1	0	1	0	0	0	0	11606	564	20	0	45	0	PCSK9	1	55505553	In_Frame_Del	DEL	CTG	TCGA-EM-A3FL-01A-11D-A21A-08	33057578	55505553	193745068	2	6785											
SLC44A3	126969	broad.mit.edu	37	chr1	95290099	95290099	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggagccgcgggaagactcctCtttggctatgacagctttgg	14	10	1	2			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr1:95290099C>T	ENST00000271227.6	+	3	288	c.186C>T	c.(184-186)ctC>ctT	p.L62L	SLC44A3_ENST00000529450.1_Silent_p.L62L|SLC44A3_ENST00000527077.1_Silent_p.L26L|SLC44A3_ENST00000446120.2_Silent_p.L26L|SLC44A3_ENST00000532427.1_Silent_p.L14L|SLC44A3_ENST00000467909.1_Silent_p.L14L	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	62					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	GAAGACTCCTCTTTGGCTATG	0.552																																						ENST00000271227.6																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23						c.(184-186)ctC>ctT		solute carrier family 44, member 3	Choline(DB00122)						85	90	88					1																	95290099		2203	4300	6503	SO:0001819	synonymous_variant	126969					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:95290099C>T	BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"Solute carriers"	28689	protein-coding gene	gene with protein product			"solute carrier family, member 3"			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.186C>T	1.37:g.95290099C>T						SLC44A3_ENST00000446120.2_Silent_p.L26L|SLC44A3_ENST00000527077.1_Silent_p.L26L|SLC44A3_ENST00000467909.1_Silent_p.L14L|SLC44A3_ENST00000532427.1_Silent_p.L14L|SLC44A3_ENST00000529450.1_Silent_p.L62L	p.L62L	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN		all cancers(265;0.039)|Epithelial(280;0.124)	3	288	+		all_lung(203;0.000712)|Lung NSC(277;0.00316)	62					B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Silent	SNP	ENST00000271227.6	37	c.186C>T	CCDS44176.1																																																																																				0.552	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029544.3	NM_152369		6	120	0	0	0	1	0	6	120					T	95290099	C	T	95290099	2	4	322	1	0	0	0	0	0	0	0	1	14637	900	32	2		2	SLC44A3	1	95290099	Silent	SNP	C	TCGA-EM-A3FL-01A-11D-A21A-08	39784546	95290099	153960522	3	6786											
SLC5A6	8884	broad.mit.edu	37	chr2	27426733	27426733	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccatcacaaagtacaggacGaactgcaagcagagcggagg	12	10	1	1	rs59827696		TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr2:27426733G>A	ENST00000310574.3	-	10	1481	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	SLC5A6_ENST00000461319.1_5'Flank|SLC5A6_ENST00000408041.1_Silent_p.F336F	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	336					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	AGTACAGGACGAACTGCAAGC	0.592																																						ENST00000310574.3																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20						c.(1006-1008)ttC>ttT		solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	Biotin(DB00121)|Lipoic Acid(DB00166)						48	46	46					2																	27426733		2203	4300	6503	SO:0001819	synonymous_variant	8884				biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity	g.chr2:27426733G>A	AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"Solute carriers"	11041	protein-coding gene	gene with protein product		604024	"solute carrier family 5 (sodium-dependent vitamin transporter), member 6"			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.1008C>T	2.37:g.27426733G>A						SLC5A6_ENST00000408041.1_Silent_p.F336F	p.F336F	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN			10	1481	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		336					B2RB85|D6W549|Q969Y5	Silent	SNP	ENST00000310574.3	37	c.1008C>T	CCDS1740.1																																																																																				0.592	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214194.1	NM_021095		3	27	0	0	0	1	0	3	27					A	27426733	G	A	27426733	2	1	322	1	0	0	0	0	0	0	0	1	14669	1049	37	1		1	SLC5A6	2	27426733	Silent	SNP	G	TCGA-EM-A3FL-01A-11D-A21A-08		27426733	215772640	4	6787											
KIAA1211	57482	broad.mit.edu	37	chr4	57189657	57189657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaaagcaaaaggggtttcGggagcagcaggcgacgcggg	18	8	0	0			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr4:57189657G>A	ENST00000504228.1	+	7	3407	c.3302G>A	c.(3301-3303)cGg>cAg	p.R1101Q	KIAA1211_ENST00000264229.6_Missense_Mutation_p.R1101Q|KIAA1211_ENST00000541073.1_Missense_Mutation_p.R1094Q			Q6ZU35	K1211_HUMAN	KIAA1211	1101										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AAGGGGTTTCGGGAGCAGCAG	0.522																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(3301-3303)cGg>cAg		KIAA1211							72	82	79					4																	57189657		1956	4138	6094	SO:0001583	missense	57482							g.chr4:57189657G>A	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.3302G>A	4.37:g.57189657G>A	ENSP00000423366:p.Arg1101Gln					KIAA1211_ENST00000264229.6_Missense_Mutation_p.R1101Q|KIAA1211_ENST00000541073.1_Missense_Mutation_p.R1094Q	p.R1101Q			Q6ZU35	K1211_HUMAN			7	3407	+	Glioma(25;0.08)|all_neural(26;0.101)		1101					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.3302G>A	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	35	5.561671	0.96527	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073	T;T;T	0.18338	2.44;2.44;2.22	5.5	5.5	0.81552	.	.	.	.	.	T	0.43787	0.1263	M	0.66939	2.045	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.31833	-0.9929	9	0.87932	D	0	-22.2918	19.4113	0.94673	0.0:0.0:1.0:0.0	.	1094;1101	F5H1N7;Q6ZU35	.;K1211_HUMAN	Q	1101;1101;1094	ENSP00000264229:R1101Q;ENSP00000423366:R1101Q;ENSP00000444006:R1094Q	ENSP00000264229:R1101Q	R	+	2	0	KIAA1211	56884414	1.000000	0.71417	0.970000	0.41538	0.912000	0.54170	9.188000	0.94921	2.579000	0.87056	0.563000	0.77884	CGG		0.522	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		3	27	0	0	0	1	0	3	27					A	57189657	G	A	57189657	3	1	322	1	0	0	0	0	1	0	0	0	8215	1116	39	1	3324	1	KIAA1211	4	57189657	Missense_Mutation	SNP	G	TCGA-EM-A3FL-01A-11D-A21A-08		57189657	133964619	5	6788											
SHROOM3	57619	broad.mit.edu	37	chr4	77476902	77476902	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggatcctacaagaccctcagGctggtagtgcgcaggtaggt	14	10	1	1			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr4:77476902G>T	ENST00000296043.6	+	2	1262	c.309G>T	c.(307-309)agG>agT	p.R103S		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	103	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			AGACCCTCAGGCTGGTAGTGC	0.592																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(307-309)agG>agT		shroom family member 3							103	89	94					4																	77476902		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77476902G>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.309G>T	4.37:g.77476902G>T	ENSP00000296043:p.Arg103Ser						p.R103S	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		2	1262	+			103			PDZ.		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.309G>T	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	G	12.55	1.971965	0.34754	.	.	ENSG00000138771	ENST00000296043	T	0.26373	1.74	4.44	3.51	0.40186	PDZ/DHR/GLGF (4);	0.413927	0.19167	N	0.121056	T	0.16599	0.0399	N	0.20304	0.555	0.30045	N	0.812301	B	0.29909	0.261	B	0.33392	0.163	T	0.07252	-1.0782	10	0.62326	D	0.03	-16.4081	7.6555	0.28373	0.0918:0.1684:0.7398:0.0	.	103	Q8TF72	SHRM3_HUMAN	S	103	ENSP00000296043:R103S	ENSP00000296043:R103S	R	+	3	2	SHROOM3	77695926	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	3.208000	0.51114	2.398000	0.81561	0.467000	0.42956	AGG		0.592	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		3	52	1	0	1	1	1	3	52					T	77476902	G	T	77476902	3	4	322	1	0	0	0	0	1	0	0	0	14295	1194	42	4	315	4	SHROOM3	4	77476902	Missense_Mutation	SNP	G	TCGA-EM-A3FL-01A-11D-A21A-08	20287245	77476902	113677374	6	6789											
LRP2BP	55805	broad.mit.edu	37	chr4	186291863	186291863	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagctgaagacaccttgcGtggtagaaggatgccattgc	12	10	0	3	rs550395072		TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr4:186291863G>A	ENST00000328559.7	-	7	1720	c.909C>T	c.(907-909)caC>caT	p.H303H	RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000505916.1_Silent_p.H303H|LRP2BP_ENST00000510776.1_Silent_p.H277H|LRP2BP_ENST00000362004.3_Silent_p.H305H	NM_018409.3	NP_060879.2	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	303						cytoplasm (GO:0005737)				breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		GACACCTTGCGTGGTAGAAGG	0.478													G|||	1	0.000199681	8e-04	0	5008	,	,		20717	0		0	False		,,,				2504	0					ENST00000362004.3																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15						c.(913-915)caC>caT		LRP2 binding protein							131	111	118					4																	186291863		2203	4300	6503	SO:0001819	synonymous_variant	55805					cytoplasm	protein binding	g.chr4:186291863G>A	AB037746	CCDS3840.1	4q35.1	2011-05-03			ENSG00000109771	ENSG00000109771			25434	protein-coding gene	gene with protein product						10718198, 12508107	Standard	NM_018409		Approved	DKFZp761O0113	uc003ixj.2	Q9P2M1	OTTHUMG00000160460	ENST00000328559.7:c.909C>T	4.37:g.186291863G>A						LRP2BP_ENST00000505916.1_Silent_p.H303H|LRP2BP_ENST00000328559.7_Silent_p.H303H|LRP2BP_ENST00000510776.1_Silent_p.H277H	p.H305H			Q9P2M1	LR2BP_HUMAN		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)	7	1726	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	303					A6NJR7|A7E219|B3KX83|Q9NSN6	Silent	SNP	ENST00000328559.7	37	c.915C>T	CCDS3840.1																																																																																				0.478	LRP2BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360679.2	NM_018409		5	98	0	0	0	1	0	5	98					A	186291863	G	A	186291863	2	1	322	1	0	0	0	0	0	0	0	1	8957	1136	40	1		1	LRP2BP	4	186291863	Silent	SNP	G	TCGA-EM-A3FL-01A-11D-A21A-08	108814961	186291863	4862413	7	6790											
LECT2	3950	broad.mit.edu	37	chr5	135288629	135288629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattggaagacttgccagcaCatatattagcccatggccct	8	12	0	1			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr5:135288629C>T	ENST00000274507.1	-	2	274	c.74G>A	c.(73-75)tGt>tAt	p.C25Y	LECT2_ENST00000512872.1_De_novo_Start_OutOfFrame|LECT2_ENST00000514447.2_Missense_Mutation_p.C25Y|LECT2_ENST00000471827.1_5'UTR|LECT2_ENST00000522943.1_Missense_Mutation_p.C25Y|FBXL21_ENST00000467490.1_RNA	NM_002302.2	NP_002293.2	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2	25					chemotaxis (GO:0006935)|negative regulation of Wnt signaling pathway (GO:0030178)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	identical protein binding (GO:0042802)	p.C25Y(1)		large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTTGCCAGCACATATATTAGC	0.517																																						ENST00000512872.1																			1	Substitution - Missense(1)	p.C25Y(1)	upper_aerodigestive_tract(1)	large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4								leukocyte cell-derived chemotaxin 2							151	142	145					5																	135288629		2203	4300	6503	SO:0001583	missense	3950				chemotaxis|skeletal system development	cytoplasm|extracellular space		g.chr5:135288629C>T	AB007546	CCDS4190.1	5q31.1	2008-05-15			ENSG00000145826	ENSG00000145826			6550	protein-coding gene	gene with protein product		602882				9545637	Standard	NM_002302		Approved	chm-II, chm2	uc003lbe.1	O14960	OTTHUMG00000129146	ENST00000274507.1:c.74G>A	5.37:g.135288629C>T	ENSP00000274507:p.Cys25Tyr					LECT2_ENST00000514447.2_Missense_Mutation_p.C25Y|LECT2_ENST00000522943.1_Missense_Mutation_p.C25Y|LECT2_ENST00000471827.1_5'UTR|LECT2_ENST00000274507.1_Missense_Mutation_p.C25Y				O14960	LECT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		0	198	-								B2RA90|O14565|Q52M49	Translation_Start_Site	SNP	ENST00000274507.1	37		CCDS4190.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469216	0.63625	.	.	ENSG00000145826	ENST00000522943;ENST00000274507;ENST00000514447	T;T;T	0.09255	3.0;3.0;3.0	5.96	5.1	0.69264	.	0.042993	0.85682	N	0.000000	T	0.31167	0.0788	M	0.74647	2.275	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	T	0.03695	-1.1012	10	0.87932	D	0	-8.5927	10.8827	0.46948	0.0:0.9144:0.0:0.0856	.	25	O14960	LECT2_HUMAN	Y	25	ENSP00000429618:C25Y;ENSP00000274507:C25Y;ENSP00000421123:C25Y	ENSP00000274507:C25Y	C	-	2	0	LECT2	135316528	1.000000	0.71417	0.994000	0.49952	0.714000	0.41099	2.712000	0.47186	1.525000	0.49052	0.650000	0.86243	TGT		0.517	LECT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251209.1	NM_002302		8	181	0	0	0	1	0	8	181					T	135288629	C	T	135288629	3	4	322	1	0	0	0	0	1	0	0	0	8713	478	17	2	393	2	LECT2	5	135288629	Missense_Mutation	SNP	C	TCGA-EM-A3FL-01A-11D-A21A-08		135288629	45626631	8	6791											
ICK	22858	broad.mit.edu	37	chr6	52869962	52869962	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagtcatcgccgagatgcGtacttggaagcccagtctgt	12	11	2	1			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr6:52869962G>A	ENST00000350082.5	-	14	2230	c.1884C>T	c.(1882-1884)taC>taT	p.Y628Y	ICK_ENST00000356971.3_Silent_p.Y628Y	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	628					intracellular signal transduction (GO:0035556)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					GCCGAGATGCGTACTTGGAAG	0.567																																						ENST00000356971.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31						c.(1882-1884)taC>taT		intestinal cell (MAK-like) kinase							107	105	106					6																	52869962		2203	4300	6503	SO:0001819	synonymous_variant	22858				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding	g.chr6:52869962G>A	AB023153	CCDS4949.1	6p12.3-p11.2	2008-02-05			ENSG00000112144	ENSG00000112144			21219	protein-coding gene	gene with protein product		612325				12103360	Standard	NM_014920		Approved	MRK, LCK2, KIAA0936, MGC46090	uc003pbi.2	Q9UPZ9	OTTHUMG00000014870	ENST00000350082.5:c.1884C>T	6.37:g.52869962G>A						ICK_ENST00000350082.5_Silent_p.Y628Y	p.Y628Y	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN			15	2373	-	Lung NSC(77;0.103)		628					A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	Silent	SNP	ENST00000350082.5	37	c.1884C>T	CCDS4949.1																																																																																				0.567	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040952.1	NM_016513		4	180	0	0	0	1	0	4	180					A	52869962	G	A	52869962	2	1	322	1	0	0	0	0	0	0	0	1	7484	1140	40	1		1	ICK	6	52869962	Silent	SNP	G	TCGA-EM-A3FL-01A-11D-A21A-08		52869962	118245105	9	6792											
TCP1	6950	broad.mit.edu	37	chr6	160205735	160205735	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagttgagtgcatagccactGatgagcatactctccatttg	9	10	1	3			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr6:160205735G>A	ENST00000321394.7	-	6	913	c.633C>T	c.(631-633)atC>atT	p.I211I	SNORA29_ENST00000384183.1_RNA|TCP1_ENST00000420894.2_Silent_p.I211I|TCP1_ENST00000544255.1_Intron|TCP1_ENST00000392168.2_Silent_p.I56I	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	211					'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)|tubulin complex assembly (GO:0007021)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|nuclear heterochromatin (GO:0005720)|pericentriolar material (GO:0000242)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		CATAGCCACTGATGAGCATAC	0.413																																						ENST00000321394.7																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10						c.(631-633)atC>atT		t-complex 1							106	103	104					6																	160205735		2203	4300	6503	SO:0001819	synonymous_variant	6950				'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding	g.chr6:160205735G>A	X52882	CCDS5269.1, CCDS43522.1	6q25-q27	2012-10-02			ENSG00000120438	ENSG00000120438		"Heat Shock Proteins / Chaperonins"	11655	protein-coding gene	gene with protein product		186980				3476253, 3653076	Standard	NM_030752		Approved	D6S230E, CCT1, Ccta	uc003qsr.3	P17987	OTTHUMG00000015937	ENST00000321394.7:c.633C>T	6.37:g.160205735G>A						TCP1_ENST00000392168.2_Silent_p.I56I|TCP1_ENST00000544255.1_Intron|TCP1_ENST00000420894.2_Silent_p.I211I	p.I211I	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	6	913	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	211					E1P5B2|Q15556|Q5TCM3	Silent	SNP	ENST00000321394.7	37	c.633C>T	CCDS5269.1																																																																																				0.413	TCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042917.2	NM_030752		36	86	0	0	0	1	0	36	86					A	160205735	G	A	160205735	2	1	322	1	0	0	0	0	0	0	0	1	15706	1280	45	2		2	TCP1	6	160205735	Silent	SNP	G	TCGA-EM-A3FL-01A-11D-A21A-08	107335773	160205735	10909332	10	6793											
MKLN1	4289	broad.mit.edu	37	chr7	131012679	131012679	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atggcggctggcggagctgtCgctgcggcgcccgagtgccg	19	13	0	0	rs142689824		TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr7:131012679C>T	ENST00000352689.6	+	1	61	c.21C>T	c.(19-21)gtC>gtT	p.V7V	MKLN1-AS2_ENST00000429067.1_RNA|MKLN1-AS2_ENST00000454515.1_RNA|MKLN1-AS2_ENST00000416220.1_RNA|MKLN1_ENST00000429546.1_Intron|MKLN1_ENST00000421797.2_Intron	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	7					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					GCGGAGCTGTCGCTGCGGCGC	0.677																																						ENST00000352689.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(19-21)gtC>gtT		muskelin 1, intracellular mediator containing kelch motifs							25	28	27					7																	131012679		2175	4246	6421	SO:0001819	synonymous_variant	4289				signal transduction	cytoplasm	protein binding	g.chr7:131012679C>T	AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.21C>T	7.37:g.131012679C>T						MKLN1_ENST00000421797.2_Intron|MKLN1_ENST00000429546.1_Intron	p.V7V	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN			1	61	+	Melanoma(18;0.162)		7					A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Silent	SNP	ENST00000352689.6	37	c.21C>T	CCDS34754.1																																																																																				0.677	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	NM_013255		7	64	0	0	0	1	0	7	64					T	131012679	C	T	131012679	2	4	322	1	0	0	0	0	0	0	0	1	9603	871	31	1		1	MKLN1	7	131012679	Silent	SNP	C	TCGA-EM-A3FL-01A-11D-A21A-08		131012679	28125984	11	6794											
CSMD1	64478	broad.mit.edu	37	chr8	2832078	2832078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggagtagtgcacgacggCgccataggtaaacagctctc	13	11	1	0			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr8:2832078C>T	ENST00000520002.1	-	57	9193	c.8638G>A	c.(8638-8640)Gcc>Acc	p.A2880T	CSMD1_ENST00000602723.1_Missense_Mutation_p.A2822T|CSMD1_ENST00000400186.3_Missense_Mutation_p.A2822T|CSMD1_ENST00000542608.1_Missense_Mutation_p.A2821T|CSMD1_ENST00000602557.1_Missense_Mutation_p.A2880T|CSMD1_ENST00000537824.1_Missense_Mutation_p.A2879T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2880	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCACGACGGCGCCATAGGTA	0.557																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(8638-8640)Gcc>Acc		CUB and Sushi multiple domains 1							46	49	48					8																	2832078		2010	4169	6179	SO:0001583	missense	64478					integral to membrane		g.chr8:2832078C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8638G>A	8.37:g.2832078C>T	ENSP00000430733:p.Ala2880Thr					CSMD1_ENST00000602723.1_Missense_Mutation_p.A2822T|CSMD1_ENST00000400186.3_Missense_Mutation_p.A2822T|CSMD1_ENST00000602557.1_Missense_Mutation_p.A2880T|CSMD1_ENST00000542608.1_Missense_Mutation_p.A2821T|CSMD1_ENST00000537824.1_Missense_Mutation_p.A2879T	p.A2880T			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	57	9193	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2880			Sushi 21.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.8638G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.778|6.778	0.512416|0.512416	0.12944|0.12944	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.65364|.	-0.15;-0.15;-0.15;-0.15|.	5.66|5.66	2.43|2.43	0.29744|0.29744	Complement control module (2);Sushi/SCR/CCP (3);|.	0.231592|.	0.37136|.	N|.	0.002235|.	T|T	0.45196|0.45196	0.1330|0.1330	L|L	0.38733|0.38733	1.17|1.17	0.80722|0.80722	D|D	1|1	P;B;B|.	0.48834|.	0.916;0.299;0.254|.	B;B;B|.	0.42422|.	0.387;0.384;0.095|.	T|T	0.19549|0.19549	-1.0302|-1.0302	10|5	0.59425|.	D|.	0.04|.	.|.	6.9946|6.9946	0.24774|0.24774	0.5713:0.3333:0.0:0.0953|0.5713:0.3333:0.0:0.0953	.|.	2880;2880;2821|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	T|H	2822;2880;2741;2879;2821|2296	ENSP00000383047:A2822T;ENSP00000430733:A2880T;ENSP00000441462:A2879T;ENSP00000446243:A2821T|.	ENSP00000320445:A2741T|.	A|R	-|-	1|2	0|0	CSMD1|CSMD1	2819485|2819485	0.115000|0.115000	0.22152|0.22152	0.036000|0.036000	0.18154|0.18154	0.004000|0.004000	0.04260|0.04260	0.652000|0.652000	0.24888|0.24888	0.660000|0.660000	0.30964|0.30964	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.557	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		6	22	0	0	0	1	0	6	22					T	2832078	C	T	2832078	3	4	322	1	0	0	0	0	1	0	0	0	3944	768	27	1	2119	1	CSMD1	8	2832078	Missense_Mutation	SNP	C	TCGA-EM-A3FL-01A-11D-A21A-08		2832078	143531944	12	6795											
STX17	55014	broad.mit.edu	37	chr9	102713485	102713485	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctccaactccatttggaAtctgtagaagaacttaagaa	6	8	2	3			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr9:102713485A>G	ENST00000259400.6	+	4	469	c.333A>G	c.(331-333)gaA>gaG	p.E111E	STX17_ENST00000534052.1_Silent_p.E111E|STX17_ENST00000525640.1_Silent_p.E111E|STX17_ENST00000525847.1_3'UTR	NM_017919.2	NP_060389.2	P56962	STX17_HUMAN	syntaxin 17	111					autophagic vacuole fusion (GO:0000046)|endoplasmic reticulum-Golgi intermediate compartment organization (GO:0097111)|ER to Golgi vesicle-mediated transport (GO:0006888)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|protein localization to pre-autophagosomal structure (GO:0034497)	autophagic vacuole membrane (GO:0000421)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle (GO:0030134)|ER-mitochondrion membrane contact site (GO:0044233)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|smooth endoplasmic reticulum membrane (GO:0030868)|SNARE complex (GO:0031201)	protein phosphatase binding (GO:0019903)|SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				TCCATTTGGAATCTGTAGAAG	0.393																																						ENST00000259400.6																			0				endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(331-333)gaA>gaG		syntaxin 17							107	106	107					9																	102713485		2203	4299	6502	SO:0001819	synonymous_variant	55014				intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum|integral to membrane|nucleolus	SNAP receptor activity	g.chr9:102713485A>G	AL834371	CCDS6745.1	9q31.1	2008-02-05			ENSG00000136874	ENSG00000136874			11432	protein-coding gene	gene with protein product		604204				9852078	Standard	NM_017919		Approved	FLJ20651	uc004bal.4	P56962	OTTHUMG00000020359	ENST00000259400.6:c.333A>G	9.37:g.102713485A>G						STX17_ENST00000525847.1_3'UTR|STX17_ENST00000525640.1_Silent_p.E111E|STX17_ENST00000534052.1_Silent_p.E111E	p.E111E	NM_017919.2	NP_060389.2	P56962	STX17_HUMAN			4	469	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	111					Q4VXC2	Silent	SNP	ENST00000259400.6	37	c.333A>G	CCDS6745.1																																																																																				0.393	STX17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053398.3	NM_017919		11	40	0	0	0	1	0	11	40					G	102713485	A	G	102713485	2	3	322	1	0	0	0	0	0	0	0	1	15339	98	4	3		3	STX17	9	102713485	Silent	SNP	A	TCGA-EM-A3FL-01A-11D-A21A-08		102713485	38499946	13	6796											
NHLRC2	374354	broad.mit.edu	37	chr10	115614727	115614727	+	Frame_Shift_Del	DEL	G	G	-													ctcgacgccgttacccagcaGgagaaggacagcctggtcta							TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr10:115614727delG	ENST00000369301.3	+	1	308	c.96delG	c.(94-96)cagfs	p.Q32fs	DCLRE1A_ENST00000476112.1_5'Flank|DCLRE1A_ENST00000361384.2_5'Flank|DCLRE1A_ENST00000369305.1_5'Flank	NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	32										breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		TTACCCAGCAGGAGAAGGACA	0.672																																						ENST00000369301.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(94-96)cafs		NHL repeat containing 2							45	38	40					10																	115614727		2162	4204	6366	SO:0001589	frameshift_variant	374354				cell redox homeostasis			g.chr10:115614727delG	AK090631	CCDS7585.1	10q26.11	2006-03-31			ENSG00000196865	ENSG00000196865			24731	protein-coding gene	gene with protein product						12477932	Standard	NM_198514		Approved	FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115	uc001lax.2	Q8NBF2	OTTHUMG00000019078	ENST00000369301.3:c.96delG	10.37:g.115614727delG	ENSP00000358307:p.Gln32fs						p.Q32fs	NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN		Epithelial(162;0.017)|all cancers(201;0.0187)	1	308	+			32					Q8N1H1|Q8N5A6	Frame_Shift_Del	DEL	ENST00000369301.3	37	c.96delG	CCDS7585.1																																																																																				0.672	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050446.1	NM_198514		2	4						2	4	---	---	---	---	-	115614727	G	-	115614727	7	5	322	1	0	1	0	1	0	0	0	0	10406	991	35	0	98	0	NHLRC2	10	115614727	Frame_Shift_Del	DEL	G	TCGA-EM-A3FL-01A-11D-A21A-08		115614727	19920020	14	6797											
KDM5A	5927	broad.mit.edu	37	chr12	417066	417066	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgcggcaaatgcaaaattTtacttcttctatgcggtcca	7	10	2	0			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr12:417066T>G	ENST00000399788.2	-	23	3846	c.3484A>C	c.(3484-3486)Aaa>Caa	p.K1162Q	KDM5A_ENST00000382815.4_Missense_Mutation_p.K1162Q	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1162					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						ATGCAAAATTTTACTTCTTCT	0.448			T	NUP98	AML																																	ENST00000399788.2				Dom	yes		12	12p11	5927	T	"lysine (K)-specific demethylase 5A, JARID1A"			L	NUP98		AML		0				NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						c.(3484-3486)Aaa>Caa		lysine (K)-specific demethylase 5A							117	119	118					12																	417066		1994	4157	6151	SO:0001583	missense	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:417066T>G		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	9886	protein-coding gene	gene with protein product		180202	"retinoblastoma-binding protein 2", "Jumonji, AT rich interactive domain 1A (RBBP2-like)", "jumonji, AT rich interactive domain 1A"	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.3484A>C	12.37:g.417066T>G	ENSP00000382688:p.Lys1162Gln					KDM5A_ENST00000382815.4_Missense_Mutation_p.K1162Q	p.K1162Q	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN			23	3846	-			1162					A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	c.3484A>C	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	T	15.23	2.772024	0.49680	.	.	ENSG00000073614	ENST00000399788;ENST00000382815	D;D	0.85013	-1.93;-1.93	5.52	5.52	0.82312	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.048451	0.85682	D	0.000000	T	0.80994	0.4731	L	0.46157	1.445	0.41655	D	0.98915	B;B	0.23249	0.029;0.082	B;B	0.25291	0.028;0.059	T	0.77998	-0.2376	10	0.46703	T	0.11	-17.2066	11.8592	0.52457	0.0:0.0:0.1459:0.8541	.	1162;1162	P29375;P29375-2	KDM5A_HUMAN;.	Q	1162	ENSP00000382688:K1162Q;ENSP00000372265:K1162Q	ENSP00000372265:K1162Q	K	-	1	0	KDM5A	287327	1.000000	0.71417	0.979000	0.43373	0.997000	0.91878	5.832000	0.69337	2.214000	0.71695	0.477000	0.44152	AAA		0.448	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		28	95	0	0	0	1	0	28	95					G	417066	T	G	417066	3	3	322	1	0	0	0	0	1	0	0	0	8133	1850	64	5	1612	5	KDM5A	12	417066	Missense_Mutation	SNP	T	TCGA-EM-A3FL-01A-11D-A21A-08		417066	133434829	15	6798											
LRP1	4035	broad.mit.edu	37	chr12	57605751	57605751	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctctgctgttgctgctgctgCtggttctggtggccggagtg	16	10	2	0			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr12:57605751C>G	ENST00000243077.3	+	87	13766	c.13300C>G	c.(13300-13302)Ctg>Gtg	p.L4434V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4434					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)	GCTGCTGCTGCTGGTTCTGGT	0.547																																						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.(13300-13302)Ctg>Gtg		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						167	144	152					12																	57605751		2203	4300	6503	SO:0001583	missense	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.chr12:57605751C>G	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.13300C>G	12.37:g.57605751C>G	ENSP00000243077:p.Leu4434Val						p.L4434V	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	87	13766	+			4434					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.13300C>G	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.353405	0.24512	.	.	ENSG00000123384	ENST00000243077	T	0.49720	0.77	4.43	-1.01	0.10169	.	0.837651	0.09715	N	0.765158	T	0.30823	0.0777	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.08432	-1.0722	10	0.24483	T	0.36	.	11.6529	0.51299	0.202:0.3947:0.4032:0.0	.	4434	Q07954	LRP1_HUMAN	V	4434	ENSP00000243077:L4434V	ENSP00000243077:L4434V	L	+	1	2	LRP1	55892018	0.770000	0.28543	0.949000	0.38748	0.629000	0.37895	-0.105000	0.10907	-0.792000	0.04480	-1.268000	0.01426	CTG		0.547	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		3	187	0	0	0	1	0	3	187					G	57605751	C	G	57605751	3	3	322	1	0	0	0	0	1	0	0	0	8951	796	28	4	13646	4	LRP1	12	57605751	Missense_Mutation	SNP	C	TCGA-EM-A3FL-01A-11D-A21A-08	57188685	57605751	76246144	16	6799											
XPOT	11260	broad.mit.edu	37	chr12	64810532	64810532	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggaacatcaagttaaataCaagtaaggcttttcttactg	7	7	2	0			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr12:64810532C>A	ENST00000332707.5	+	4	727	c.198C>A	c.(196-198)taC>taA	p.Y66*		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	66	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		AAGTTAAATACAAGTAAGGCT	0.318																																						ENST00000332707.5																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(196-198)taC>taA		exportin, tRNA							133	143	139					12																	64810532		2202	4300	6502	SO:0001587	stop_gained	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64810532C>A	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"Exportins"	12826	protein-coding gene	gene with protein product		603180	"exportin, tRNA (nuclear export receptor for tRNAs)"			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.198C>A	12.37:g.64810532C>A	ENSP00000327821:p.Tyr66*						p.Y66*	NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	4	727	+			66			Necessary for interaction with Ran, nuclear localization and nuclear import.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Nonsense_Mutation	SNP	ENST00000332707.5	37	c.198C>A	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	C	38	7.185625	0.98121	.	.	ENSG00000184575	ENST00000332707;ENST00000400935	.	.	.	5.2	4.31	0.51392	.	0.101474	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8322	0.46667	0.0:0.8522:0.0:0.1478	.	.	.	.	X	66	.	.	Y	+	3	2	XPOT	63096799	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.075000	0.41538	1.516000	0.48900	0.655000	0.94253	TAC		0.318	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		3	77	1	0	1	1	1	3	77					A	64810532	C	A	64810532	4	1	322	1	0	0	0	0	0	1	0	0	17447	489	17	4	208	4	XPOT	12	64810532	Nonsense_Mutation	SNP	C	TCGA-EM-A3FL-01A-11D-A21A-08	7204781	64810532	69041363	17	6800											
DNAH10	196385	broad.mit.edu	37	chr12	124356031	124356031	+	Frame_Shift_Del	DEL	C	C	-													agtggataccactcggactaCctggatattggaacaaatgg							TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr12:124356031delC	ENST00000409039.3	+	44	7338	c.7313delC	c.(7312-7314)accfs	p.T2438fs		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2438	AAA 3. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACTCGGACTACCTGGATATTG	0.433																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(7312-7314)acfs		dynein, axonemal, heavy chain 10							52	51	51					12																	124356031		1869	4102	5971	SO:0001589	frameshift_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124356031delC	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.7313delC	12.37:g.124356031delC	ENSP00000386770:p.Thr2438fs						p.T2438fs	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	44	7338	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		2438			AAA 3 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Frame_Shift_Del	DEL	ENST00000409039.3	37	c.7313delC	CCDS9255.2																																																																																				0.433	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			2	4						2	4	---	---	---	---	-	124356031	C	-	124356031	7	5	322	1	0	1	0	1	0	0	0	0	4598	507	18	0	7487	0	DNAH10	12	124356031	Frame_Shift_Del	DEL	C	TCGA-EM-A3FL-01A-11D-A21A-08	59545499	124356031	9495864	18	6801											
TMEM132B	114795	broad.mit.edu	37	chr12	125834274	125834274	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacatctacagcctttggaaAcatggacaaatttcccttca	6	11	2	0			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr12:125834274A>G	ENST00000299308.3	+	2	337	c.329A>G	c.(328-330)aAc>aGc	p.N110S	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	110						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GCCTTTGGAAACATGGACAAA	0.468																																						ENST00000299308.3																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(328-330)aAc>aGc		transmembrane protein 132B							115	112	113					12																	125834274		1901	4133	6034	SO:0001583	missense	114795					integral to membrane		g.chr12:125834274A>G	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.329A>G	12.37:g.125834274A>G	ENSP00000299308:p.Asn110Ser					TMEM132B_ENST00000418253.2_3'UTR	p.N110S	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	2	337	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		110					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.329A>G	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	A	4.549	0.101952	0.08731	.	.	ENSG00000139364	ENST00000299308	T	0.10099	2.91	5.49	-4.74	0.03249	.	.	.	.	.	T	0.03095	0.0091	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43845	-0.9366	9	0.18276	T	0.48	.	2.9038	0.05714	0.1987:0.284:0.3849:0.1325	.	110	Q14DG7	T132B_HUMAN	S	110	ENSP00000299308:N110S	ENSP00000299308:N110S	N	+	2	0	TMEM132B	124400227	0.000000	0.05858	0.000000	0.03702	0.548000	0.35241	1.083000	0.30815	-0.788000	0.04504	0.482000	0.46254	AAC		0.468	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		4	114	0	0	0	1	0	4	114					G	125834274	A	G	125834274	3	3	322	1	0	0	0	0	1	0	0	0	16043	43	2	3	335	3	TMEM132B	12	125834274	Missense_Mutation	SNP	A	TCGA-EM-A3FL-01A-11D-A21A-08	1478243	125834274	8017621	19	6802											
TPTE2	93492	broad.mit.edu	37	chr13	20004644	20004644	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagtactggaaaagacaacCtttttctccattactacttg	6	9	1	1	rs372777846		TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr13:20004644C>A	ENST00000400230.2	-	17	1310	c.1266G>T	c.(1264-1266)aaG>aaT	p.K422N	TPTE2_ENST00000382975.4_Missense_Mutation_p.K382N|TPTE2_ENST00000255310.6_Missense_Mutation_p.K345N|TPTE2_ENST00000382977.4_Missense_Mutation_p.K422N|TPTE2_ENST00000382978.1_Missense_Mutation_p.K382N|TPTE2_ENST00000390680.2_Missense_Mutation_p.K345N|TPTE2_ENST00000457266.2_Missense_Mutation_p.K311N|TPTE2_ENST00000400103.2_Missense_Mutation_p.K311N			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	422	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AAAAGACAACCTTTTTCTCCA	0.328																																						ENST00000400230.2																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1264-1266)aaG>aaT		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2		C	ASN/LYS,ASN/LYS,ASN/LYS	0,4404		0,0,2202	65	58	61		1266,1035,933	0.4	0.0	13		61	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense	TPTE2	NM_199254.2,NM_130785.3,NM_001141968.1	94,94,94	0,1,6500	AA,AC,CC		0.0116,0.0,0.0077	benign,benign,benign	422/523,345/446,311/412	20004644	1,13001	2202	4299	6501	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20004644C>A	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.1266G>T	13.37:g.20004644C>A	ENSP00000383089:p.Lys422Asn					TPTE2_ENST00000390680.2_Missense_Mutation_p.K345N|TPTE2_ENST00000255310.6_Missense_Mutation_p.K345N|TPTE2_ENST00000382978.1_Missense_Mutation_p.K382N|TPTE2_ENST00000400103.2_Missense_Mutation_p.K311N|TPTE2_ENST00000382975.4_Missense_Mutation_p.K382N|TPTE2_ENST00000382977.4_Missense_Mutation_p.K422N|TPTE2_ENST00000457266.2_Missense_Mutation_p.K311N	p.K422N			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	17	1310	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	422			C2 tensin-type.		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.1266G>T	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	c	5.433	0.265052	0.10294	0.0	1.16E-4	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	D;D;D;D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01	2.24	0.454	0.16644	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.531595	0.20024	N	0.100848	T	0.79009	0.4374	L	0.60455	1.87	0.09310	N	1	B;B;B	0.27594	0.107;0.151;0.182	B;B;B	0.31946	0.138;0.061;0.102	T	0.65191	-0.6228	9	.	.	.	-0.0344	5.3276	0.15915	0.0:0.6893:0.0:0.3107	.	311;345;422	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	N	382;311;422;345;345;422;382;311;422;291	ENSP00000372438:K382N;ENSP00000382974:K311N;ENSP00000383089:K422N;ENSP00000255310:K345N;ENSP00000375098:K345N;ENSP00000372437:K422N;ENSP00000372435:K382N;ENSP00000442218:K311N	.	K	-	3	2	TPTE2	18902644	0.000000	0.05858	0.000000	0.03702	0.245000	0.25701	-0.414000	0.07114	0.027000	0.15297	-1.050000	0.02344	AAG		0.328	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		4	21	1	0	0.150653	1	0.158002	4	21					A	20004644	C	A	20004644	3	1	322	1	0	0	0	0	1	0	0	0	16428	680	24	4	318	4	TPTE2	13	20004644	Missense_Mutation	SNP	C	TCGA-EM-A3FL-01A-11D-A21A-08		20004644	95165234	20	6803											
MAB21L1	4081	broad.mit.edu	37	chr13	36050055	36050055	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgagataaagcaccacttcaAattcggtgggggagatgacc	12	8	1	3			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr13:36050055A>T	ENST00000379919.4	-	1	777	c.221T>A	c.(220-222)tTt>tAt	p.F74Y	NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000540320.1_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	74					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)		CACCACTTCAAATTCGGTGGG	0.572																																						ENST00000379919.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20						c.(220-222)tTt>tAt		mab-21-like 1 (C. elegans)							94	94	94					13																	36050055		2203	4300	6503	SO:0001583	missense	4081				anatomical structure morphogenesis	nucleus		g.chr13:36050055A>T	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.221T>A	13.37:g.36050055A>T	ENSP00000369251:p.Phe74Tyr					NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron	p.F74Y	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	777	-		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)	74					Q6I9T5	Missense_Mutation	SNP	ENST00000379919.4	37	c.221T>A	CCDS9353.1	.	.	.	.	.	.	.	.	.	.	A	16.47	3.131597	0.56828	.	.	ENSG00000180660	ENST00000379919	T	0.10099	2.91	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.13713	0.0332	L	0.47016	1.485	0.80722	D	1	P	0.34997	0.479	B	0.36092	0.217	T	0.02075	-1.1218	10	0.48119	T	0.1	-2.8798	15.8843	0.79232	1.0:0.0:0.0:0.0	.	74	Q13394	MB211_HUMAN	Y	74	ENSP00000369251:F74Y	ENSP00000369251:F74Y	F	-	2	0	MAB21L1	34948055	1.000000	0.71417	0.643000	0.29450	0.982000	0.71751	9.339000	0.96797	2.164000	0.68074	0.533000	0.62120	TTT		0.572	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	NM_005584		4	132	0	0	0	1	0	4	132					T	36050055	A	T	36050055	3	4	322	1	0	0	0	0	1	0	0	0	9141	14	1	5	862	5	MAB21L1	13	36050055	Missense_Mutation	SNP	A	TCGA-EM-A3FL-01A-11D-A21A-08	16045411	36050055	79119823	21	6804											
ZFYVE26	23503	broad.mit.edu	37	chr14	68274320	68274320	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccaagtggttctgcgggGcaacgcagagtccgcagggc	15	13	1	1	rs372110379		TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr14:68274320G>A	ENST00000347230.4	-	5	819	c.681C>T	c.(679-681)tgC>tgT	p.C227C	ZFYVE26_ENST00000555452.1_Silent_p.C227C	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	227					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GTTCTGCGGGGCAACGCAGAG	0.622																																						ENST00000347230.4																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(679-681)tgC>tgT		zinc finger, FYVE domain containing 26							48	47	48					14																	68274320		2203	4300	6503	SO:0001819	synonymous_variant	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68274320G>A	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.681C>T	14.37:g.68274320G>A						ZFYVE26_ENST00000555452.1_Silent_p.C227C	p.C227C	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	5	819	-			227					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	ENST00000347230.4	37	c.681C>T	CCDS9788.1																																																																																				0.622	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		3	53	0	0	0	1	0	3	53					A	68274320	G	A	68274320	2	1	322	1	0	0	0	0	0	0	0	1	17665	1195	42	2		2	ZFYVE26	14	68274320	Silent	SNP	G	TCGA-EM-A3FL-01A-11D-A21A-08		68274320	39075220	22	6805											
SERPINA1	5265	broad.mit.edu	37	chr14	94849389	94849389	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactggtgtgccagctggcgGtataggctgaaggcgaactc	16	9	0	1			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr14:94849389G>A	ENST00000448921.1	-	4	758	c.186C>T	c.(184-186)taC>taT	p.Y62Y	SERPINA1_ENST00000437397.1_Silent_p.Y62Y|SERPINA1_ENST00000402629.1_Silent_p.Y62Y|SERPINA1_ENST00000355814.4_Silent_p.Y62Y|SERPINA1_ENST00000404814.4_Silent_p.Y62Y|SERPINA1_ENST00000449399.3_Silent_p.Y62Y|SERPINA1_ENST00000393087.4_Silent_p.Y62Y|SERPINA1_ENST00000440909.1_Silent_p.Y62Y|SERPINA1_ENST00000393088.4_Silent_p.Y62Y|SERPINA1_ENST00000555289.1_5'Flank	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	62					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CCAGCTGGCGGTATAGGCTGA	0.547																																						ENST00000448921.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24						c.(184-186)taC>taT		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	Alpha-1-proteinase inhibitor(DB00058)						157	131	140					14																	94849389		2203	4300	6503	SO:0001819	synonymous_variant	5265				acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity	g.chr14:94849389G>A	X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"Serine (or cysteine) peptidase inhibitors"	8941	protein-coding gene	gene with protein product	"protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"	107400	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.186C>T	14.37:g.94849389G>A						SERPINA1_ENST00000402629.1_Silent_p.Y62Y|SERPINA1_ENST00000449399.3_Silent_p.Y62Y|SERPINA1_ENST00000404814.4_Silent_p.Y62Y|SERPINA1_ENST00000437397.1_Silent_p.Y62Y|SERPINA1_ENST00000393087.4_Silent_p.Y62Y|SERPINA1_ENST00000393088.4_Silent_p.Y62Y|SERPINA1_ENST00000355814.4_Silent_p.Y62Y|SERPINA1_ENST00000440909.1_Silent_p.Y62Y	p.Y62Y	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	4	758	-		all_cancers(154;0.0649)|all_epithelial(191;0.223)	62					A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Silent	SNP	ENST00000448921.1	37	c.186C>T	CCDS9925.1																																																																																				0.547	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235		4	157	0	0	0	1	0	4	157					A	94849389	G	A	94849389	2	1	322	1	0	0	0	0	0	0	0	1	14086	1256	44	2		2	SERPINA1	14	94849389	Silent	SNP	G	TCGA-EM-A3FL-01A-11D-A21A-08	26575069	94849389	12500151	23	6806											
FAM82A2	55177	broad.mit.edu	37	chr15	41046872	41046872	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcggccatgacgctgggtcCgtttccatcgctggctgtaa	13	12	0	1			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr15:41046872C>A	ENST00000260385.6	-	1	1177	c.110G>T	c.(109-111)cGg>cTg	p.R37L	RMDN3_ENST00000558560.1_5'Flank|RMDN3_ENST00000338376.3_Missense_Mutation_p.R37L			Q96TC7	RMD3_HUMAN	regulator of microtubule dynamics 3	37					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)	integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											ACGCTGGGTCCGTTTCCATCG	0.662																																						ENST00000260385.6																			0											c.(109-111)cGg>cTg		regulator of microtubule dynamics 3							65	64	64					15																	41046872		2203	4300	6503	SO:0001583	missense	55177							g.chr15:41046872C>A	AK001441	CCDS10063.1	15q15.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000137824	ENSG00000137824			25550	protein-coding gene	gene with protein product		611873	"family with sequence similarity 82, member A2"	FAM82C, FAM82A2		12975309	Standard	XM_005254531		Approved	FLJ10579, PTPIP51, RMD3	uc001zmp.1	Q96TC7	OTTHUMG00000130066	ENST00000260385.6:c.110G>T	15.37:g.41046872C>A	ENSP00000260385:p.Arg37Leu					RMDN3_ENST00000338376.3_Missense_Mutation_p.R37L	p.R37L							1	1177	-								A9UMZ9|B3KRR3|Q6ZWE9|Q96H23|Q96SD6|Q9H6G1|Q9NVQ6	Missense_Mutation	SNP	ENST00000260385.6	37	c.110G>T	CCDS10063.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171956	0.78452	.	.	ENSG00000137824	ENST00000260385;ENST00000338376	T;T	0.42513	0.97;0.97	5.59	4.65	0.58169	.	0.124363	0.49916	D	0.000136	T	0.30696	0.0773	L	0.32530	0.975	0.43168	D	0.994967	B	0.10296	0.003	B	0.10450	0.005	T	0.15665	-1.0429	10	0.72032	D	0.01	-9.254	7.4109	0.27017	0.1684:0.7475:0.0:0.084	.	37	Q96TC7	RMD3_HUMAN	L	37	ENSP00000260385:R37L;ENSP00000342493:R37L	ENSP00000260385:R37L	R	-	2	0	FAM82A2	38834164	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.390000	0.44416	1.447000	0.47661	0.655000	0.94253	CGG		0.662	RMDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252357.1	NM_018145		3	64	1	0	0.00909568	1	0.0100286	3	64					A	41046872	C	A	41046872	3	1	322	1	0	0	0	0	1	0	0	0	5631	652	23	4	1350	4	FAM82A2	15	41046872	Missense_Mutation	SNP	C	TCGA-EM-A3FL-01A-11D-A21A-08		41046872	61484520	24	6807											
NEDD4	4734	broad.mit.edu	37	chr15	56207613	56207613	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctttagaacaattgtgctTaaggctggatagacaggaaa	10	7	0	2			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr15:56207613T>C	ENST00000508342.1	-	1	1716	c.1417A>G	c.(1417-1419)Aag>Gag	p.K473E	NEDD4_ENST00000338963.2_Missense_Mutation_p.K473E|NEDD4_ENST00000506154.1_Missense_Mutation_p.K473E|NEDD4_ENST00000435532.3_Intron	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	473					adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CAATTGTGCTTAAGGCTGGAT	0.378																																						ENST00000508342.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(1417-1419)Aag>Gag		neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase							138	141	140					15																	56207613		2193	4291	6484	SO:0001583	missense	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56207613T>C	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"receptor-potentiating factor 1"	602278	"neural precursor cell expressed, developmentally down-regulated 4"			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.1417A>G	15.37:g.56207613T>C	ENSP00000424827:p.Lys473Glu					NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000338963.2_Missense_Mutation_p.K473E|NEDD4_ENST00000506154.1_Missense_Mutation_p.K473E	p.K473E			P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	1	1716	-			473					A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37	c.1417A>G		.	.	.	.	.	.	.	.	.	.	T	15.79	2.936443	0.52972	.	.	ENSG00000069869	ENST00000508342;ENST00000338963;ENST00000506154	T;T;T	0.26957	1.7;1.73;1.72	5.46	4.31	0.51392	.	7.777730	0.00628	U	0.000475	T	0.36303	0.0962	M	0.61703	1.905	0.23784	N	0.996853	B;B;B	0.28291	0.206;0.131;0.206	B;B;B	0.31101	0.124;0.058;0.124	T	0.41592	-0.9500	10	0.59425	D	0.04	.	11.7943	0.52090	0.0:0.0:0.147:0.853	.	473;473;473	P46934-2;P46934;P46934-3	.;NEDD4_HUMAN;.	E	473	ENSP00000424827:K473E;ENSP00000345530:K473E;ENSP00000422705:K473E	ENSP00000345530:K473E	K	-	1	0	NEDD4	53994905	1.000000	0.71417	0.973000	0.42090	0.995000	0.86356	2.175000	0.42491	0.882000	0.36016	0.377000	0.23210	AAG		0.378	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		5	89	0	0	0	1	0	5	89					C	56207613	T	C	56207613	3	2	322	1	0	0	0	0	1	0	0	0	10310	1763	61	3	2642	3	NEDD4	15	56207613	Missense_Mutation	SNP	T	TCGA-EM-A3FL-01A-11D-A21A-08	15160741	56207613	46323779	25	6808											
DHX38	9785	broad.mit.edu	37	chr16	72137670	72137670	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtcagtgaagagatggggGgaaaccttggcgaggaggtg	20	4	1	2			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr16:72137670G>A	ENST00000268482.3	+	13	2316	c.1807G>A	c.(1807-1809)Gga>Aga	p.G603R	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	603	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				AGAGATGGGGGGAAACCTTGG	0.542																																					Melanoma(97;711 1442 7855 13832 28836)	ENST00000268482.3																			0				endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48						c.(1807-1809)Gga>Aga		DEAH (Asp-Glu-Ala-His) box polypeptide 38							49	46	47					16																	72137670		2198	4300	6498	SO:0001583	missense	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72137670G>A	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"DEAH-boxes"	17211	protein-coding gene	gene with protein product		605584	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.1807G>A	16.37:g.72137670G>A	ENSP00000268482:p.Gly603Arg					DHX38_ENST00000536867.1_Intron	p.G603R	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN			13	2316	+		Ovarian(137;0.125)	603			Helicase ATP-binding.		B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	ENST00000268482.3	37	c.1807G>A	CCDS10907.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886305	0.51908	.	.	ENSG00000140829	ENST00000268482	T	0.07688	3.17	5.22	5.22	0.72569	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.361804	0.28459	N	0.015264	T	0.13114	0.0318	L	0.41573	1.285	0.80722	D	1	B	0.28178	0.202	B	0.36335	0.222	T	0.07501	-1.0769	10	0.87932	D	0	.	19.1592	0.93524	0.0:0.0:1.0:0.0	.	603	Q92620	PRP16_HUMAN	R	603	ENSP00000268482:G603R	ENSP00000268482:G603R	G	+	1	0	DHX38	70695171	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	4.312000	0.59154	2.586000	0.87340	0.563000	0.77884	GGA		0.542	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		3	54	0	0	0	1	0	3	54					A	72137670	G	A	72137670	3	1	322	1	0	0	0	0	1	0	0	0	4511	1233	43	2	1853	2	DHX38	16	72137670	Missense_Mutation	SNP	G	TCGA-EM-A3FL-01A-11D-A21A-08		72137670	18217083	26	6809											
SLFN5	162394	broad.mit.edu	37	chr17	33586571	33586571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaagtgcatgataaggggGccctccgtggatatgtctgt	14	7	1	2			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr17:33586571G>A	ENST00000299977.4	+	2	1010	c.862G>A	c.(862-864)Gcc>Acc	p.A288T	SLFN5_ENST00000592325.1_Missense_Mutation_p.A288T|SLFN5_ENST00000542451.1_Missense_Mutation_p.A288T	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	288					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		TGATAAGGGGGCCCTCCGTGG	0.473																																						ENST00000299977.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34						c.(862-864)Gcc>Acc		schlafen family member 5							137	140	139					17																	33586571		2203	4300	6503	SO:0001583	missense	162394				cell differentiation		ATP binding	g.chr17:33586571G>A	BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.862G>A	17.37:g.33586571G>A	ENSP00000299977:p.Ala288Thr					SLFN5_ENST00000592325.1_Missense_Mutation_p.A288T|SLFN5_ENST00000542451.1_Missense_Mutation_p.A288T	p.A288T	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)	2	1010	+		Ovarian(249;0.17)	288					Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	ENST00000299977.4	37	c.862G>A	CCDS32619.1	.	.	.	.	.	.	.	.	.	.	G	7.950	0.744731	0.15710	.	.	ENSG00000166750	ENST00000299977;ENST00000542451	T;T	0.61040	0.14;0.14	3.68	-2.6	0.06190	.	1.382570	0.05238	N	0.511720	T	0.47395	0.1443	M	0.62723	1.935	0.09310	N	1	B;B;B	0.23058	0.021;0.005;0.079	B;B;B	0.23852	0.008;0.008;0.049	T	0.20140	-1.0284	10	0.14252	T	0.57	.	3.5288	0.07769	0.5031:0.0:0.308:0.189	.	288;288;288	B4E128;Q08AF3;Q08AF3-2	.;SLFN5_HUMAN;.	T	288	ENSP00000299977:A288T;ENSP00000440537:A288T	ENSP00000299977:A288T	A	+	1	0	SLFN5	30610684	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.908000	0.04063	-0.243000	0.09653	-0.136000	0.14681	GCC		0.473	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	NM_144975		4	167	0	0	0	1	0	4	167					A	33586571	G	A	33586571	3	1	322	1	0	0	0	0	1	0	0	0	14737	1203	42	2	864	2	SLFN5	17	33586571	Missense_Mutation	SNP	G	TCGA-EM-A3FL-01A-11D-A21A-08		33586571	47608639	27	6810											
EML2	24139	broad.mit.edu	37	chr19	46124495	46124495	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtgagaagcctgtgtgcacGgagccctgcaggatggaatt	15	8	0	1			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr19:46124495G>T	ENST00000245925.3	-	11	1142	c.1092C>A	c.(1090-1092)tcC>tcA	p.S364S	EML2_ENST00000589876.1_Silent_p.S364S|EML2_ENST00000536630.1_Silent_p.S511S|EML2_ENST00000586902.1_5'Flank|EML2_ENST00000587152.1_Silent_p.S565S	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	364	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		CTGTGTGCACGGAGCCCTGCA	0.642																																						ENST00000536630.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31						c.(1531-1533)tcC>tcA		echinoderm microtubule associated protein like 2							123	101	108					19																	46124495		2203	4300	6503	SO:0001819	synonymous_variant	24139				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	g.chr19:46124495G>T	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"WD repeat domain containing"	18035	protein-coding gene	gene with protein product	"echinoderm MT-associated protein (EMAP)-like protein 70", "microtubule-associated protein like echinoderm EMAP"					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.1092C>A	19.37:g.46124495G>T						EML2_ENST00000245925.3_Silent_p.S364S|EML2_ENST00000589876.1_Silent_p.S364S|EML2_ENST00000587152.1_Silent_p.S565S	p.S511S	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)	14	1671	-		Ovarian(192;0.179)|all_neural(266;0.224)	364					B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Silent	SNP	ENST00000245925.3	37	c.1533C>A	CCDS12670.1																																																																																				0.642	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155		3	59	1	0	6.4e-05	1	7.24211e-05	3	59					T	46124495	G	T	46124495	2	4	322	1	0	0	0	0	0	0	0	1	5097	1103	39	4		4	EML2	19	46124495	Silent	SNP	G	TCGA-EM-A3FL-01A-11D-A21A-08		46124495	13004488	28	6811											
TULP2	7288	broad.mit.edu	37	chr19	49385438	49385438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgtccccacgttggtaaCgactcagtagcgactcctgt	10	12	1	0			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr19:49385438C>T	ENST00000221399.3	-	12	1442	c.1298G>A	c.(1297-1299)cGt>cAt	p.R433H		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	433					visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	protein complex binding (GO:0032403)			NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		ACGTTGGTAACGACTCAGTAG	0.502																																						ENST00000221399.3																			0				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22						c.(1297-1299)cGt>cAt		tubby like protein 2							87	74	78					19																	49385438		2203	4300	6503	SO:0001583	missense	7288				visual perception	cytoplasm|extracellular region		g.chr19:49385438C>T	U82469	CCDS12739.1	19q13.1	2009-08-06			ENSG00000104804	ENSG00000104804			12424	protein-coding gene	gene with protein product	"cancer/testis antigen 65"	602309				9096357	Standard	NM_003323		Approved	TUBL2, CT65	uc002pkz.2	O00295	OTTHUMG00000164406	ENST00000221399.3:c.1298G>A	19.37:g.49385438C>T	ENSP00000221399:p.Arg433His						p.R433H	NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)	12	1442	-		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	433					Q8TC50	Missense_Mutation	SNP	ENST00000221399.3	37	c.1298G>A	CCDS12739.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912821	0.72983	.	.	ENSG00000104804	ENST00000221399	D	0.96554	-4.05	4.49	3.43	0.39272	Tubby, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.94945	0.8365	L	0.56199	1.76	0.44214	D	0.997043	D	0.57571	0.98	P	0.47102	0.537	D	0.94363	0.7589	10	0.72032	D	0.01	-13.7637	11.8564	0.52439	0.1764:0.8236:0.0:0.0	.	433	O00295	TULP2_HUMAN	H	433	ENSP00000221399:R433H	ENSP00000221399:R433H	R	-	2	0	TULP2	54077250	0.762000	0.28451	0.469000	0.27204	0.035000	0.12851	2.176000	0.42500	1.216000	0.43427	0.555000	0.69702	CGT		0.502	TULP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378633.1	NM_003323		8	24	0	0	0	1	0	8	24					T	49385438	C	T	49385438	3	4	322	1	0	0	0	0	1	0	0	0	16771	536	19	1	272	1	TULP2	19	49385438	Missense_Mutation	SNP	C	TCGA-EM-A3FL-01A-11D-A21A-08	3260943	49385438	9743545	29	6812											
NDUFV3	4731	broad.mit.edu	37	chr21	44329112	44329112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcagccctcctcaggccGggagtcacctcgacactgag	11	17	3	1			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr21:44329112G>A	ENST00000340344.4	+	3	374	c.308G>A	c.(307-309)cGg>cAg	p.R103Q	NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000354250.2_Missense_Mutation_p.R468Q	NM_001001503.1	NP_001001503.1	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	103					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)		TCCTCAGGCCGGGAGTCACCT	0.512																																						ENST00000354250.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10						c.(1402-1404)cGg>cAg		NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	NADH(DB00157)						184	169	174					21																	44329112		2203	4300	6503	SO:0001583	missense	4731				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity	g.chr21:44329112G>A		CCDS33572.1, CCDS33573.1	21q22.3	2011-07-04	2002-08-29		ENSG00000160194	ENSG00000160194	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7719	protein-coding gene	gene with protein product	"complex I 10kDa subunit"	602184	"NADH dehydrogenase (ubiquinone) flavoprotein 3 (10kD)"			9344673	Standard	NM_021075		Approved	CI-10k	uc002zcm.3	P56181	OTTHUMG00000086823	ENST00000340344.4:c.308G>A	21.37:g.44329112G>A	ENSP00000342895:p.Arg103Gln					NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000340344.3_Missense_Mutation_p.R103Q	p.R468Q	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN		STAD - Stomach adenocarcinoma(101;0.0606)	4	1472	+			103					A8K0M1|J3KNX7|Q6FGD3|Q8WU60|Q9HCR5	Missense_Mutation	SNP	ENST00000340344.4	37	c.1403G>A	CCDS33573.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880472	0.51801	.	.	ENSG00000160194	ENST00000354250;ENST00000340344;ENST00000398198	.	.	.	6.01	4.21	0.49690	.	0.457209	0.20517	N	0.090762	T	0.68860	0.3047	M	0.72894	2.215	0.44966	D	0.997987	P;D	0.71674	0.931;0.998	B;P	0.56865	0.356;0.808	T	0.72953	-0.4135	9	0.72032	D	0.01	-8.3842	12.3989	0.55402	0.1349:0.0:0.8651:0.0	.	103;468	P56181;P56181-2	NDUV3_HUMAN;.	Q	468;103;107	.	ENSP00000342895:R103Q	R	+	2	0	NDUFV3	43202181	1.000000	0.71417	0.122000	0.21767	0.169000	0.22640	4.510000	0.60455	1.572000	0.49736	0.644000	0.83932	CGG		0.512	NDUFV3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195448.2			8	173	0	0	0	1	0	8	173					A	44329112	G	A	44329112	3	1	322	1	0	0	0	0	1	0	0	0	10301	1116	39	1	1417	1	NDUFV3	21	44329112	Missense_Mutation	SNP	G	TCGA-EM-A3FL-01A-11D-A21A-08		44329112	3800783	30	6813											
SRPX	8406	broad.mit.edu	37	chrX	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-													gctgcggctgggcgggacgcGcagcagcagcagcagcagca					rs35523939|rs72249350|rs139109693		TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)ctgcgc>cgc	p.L23del	SRPX_ENST00000544439.1_In_Frame_Del_p.L23del|RP13-43E11.1_ENST00000423919.1_RNA|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000432886.2_In_Frame_Del_p.L23del|SRPX_ENST00000343800.6_Intron|SRPX_ENST00000538295.1_In_Frame_Del_p.L23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:8634709, ECO:0000269|PubMed:9162095}.		autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		636	0.168477	0.1657	0.1398	3775	,	,		8591	0.0129		0.2028	False		,,,				2504	0.1053					ENST00000378533.3																			2	Deletion - In frame(2)	p.L23delL(2)	prostate(2)	autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						c.(67-72)cgc>c		sushi-repeat containing protein, X-linked																																				SO:0001651	inframe_deletion	8406				cell adhesion	cell surface|membrane		g.chrX:38079976_38079978delGCA	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"sushi-repeat-containing protein, X chromosome", "sushi-repeat-containing protein, X-linked"			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.68_70delTGC	X.37:g.38079985_38079987delGCA	ENSP00000367794:p.Leu23del		OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000432886.2_In_Frame_Del_p.LR23del|SRPX_ENST00000544439.1_In_Frame_Del_p.LR23del|SRPX_ENST00000538295.1_In_Frame_Del_p.LR23del|SRPX_ENST00000343800.6_Intron	p.LR23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN			1	174_176	-			23		Missing.			A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	In_Frame_Del	DEL	ENST00000378533.3	37	c.68_70delTGC	CCDS14245.1																																																																																				0.729	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307		6	12						6	12	---	---	---	---	-	38079978	GCA	-	38079976	7	5	322	1	0	1	0	1	0	0	0	0	15163	1087	38	0	1364	0	SRPX	23	38079976	In_Frame_Del	DEL	GCA	TCGA-EM-A3FL-01A-11D-A21A-08		38079976	117190584	31	6814											
AMOT	154796	broad.mit.edu	37	chrX	112054552	112054552	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcatggctttctctagggCctctcttttggaggatgact	10	10	3	1			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chrX:112054552C>A	ENST00000524145.1	-	4	1536	c.1462G>T	c.(1462-1464)Gcc>Tcc	p.A488S	AMOT_ENST00000371958.1_Missense_Mutation_p.A256S|AMOT_ENST00000371962.1_Missense_Mutation_p.A256S|AMOT_ENST00000371959.3_Missense_Mutation_p.A488S|AMOT_ENST00000304758.1_Missense_Mutation_p.A79S			Q4VCS5	AMOT_HUMAN	angiomotin	488					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TTCTCTAGGGCCTCTCTTTTG	0.478																																						ENST00000371959.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1462-1464)Gcc>Tcc		angiomotin							205	172	183					X																	112054552		2203	4300	6503	SO:0001583	missense	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112054552C>A	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1462G>T	X.37:g.112054552C>A	ENSP00000429013:p.Ala488Ser					AMOT_ENST00000371958.1_Missense_Mutation_p.A256S|AMOT_ENST00000371962.1_Missense_Mutation_p.A256S|AMOT_ENST00000524145.1_Missense_Mutation_p.A488S|AMOT_ENST00000304758.1_Missense_Mutation_p.A79S	p.A488S	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			3	1461	-			488					Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	ENST00000524145.1	37	c.1462G>T	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069089	0.55539	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	5.89	3.59	0.41128	.	0.153463	0.64402	D	0.000017	T	0.17280	0.0415	L	0.33137	0.985	0.37474	D	0.915736	B	0.21821	0.061	B	0.21917	0.037	T	0.10019	-1.0648	10	0.15066	T	0.55	-3.9541	9.7255	0.40328	0.0:0.7335:0.0:0.2665	.	488	Q4VCS5	AMOT_HUMAN	S	79;488;256;488;256	ENSP00000305557:A79S;ENSP00000361027:A488S;ENSP00000361030:A256S;ENSP00000429013:A488S;ENSP00000361026:A256S	ENSP00000305557:A79S	A	-	1	0	AMOT	111941208	0.777000	0.28628	0.986000	0.45419	0.992000	0.81027	0.521000	0.22893	1.077000	0.40990	0.600000	0.82982	GCC		0.478	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		6	150	1	0	2.74318e-10	1	3.27658e-10	6	150					A	112054552	C	A	112054552	3	1	322	1	0	0	0	0	1	0	0	0	582	739	26	4	1828	4	AMOT	23	112054552	Missense_Mutation	SNP	C	TCGA-EM-A3FL-01A-11D-A21A-08	73974576	112054552	43216008	32	6815											
PALMD	54873	broad.mit.edu	37	chr1	100152261	100152261	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagatccaagatcttgaaaAagctgaactgcaaatctcaa	7	8	2	4			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr1:100152261A>G	ENST00000263174.4	+	4	656	c.281A>G	c.(280-282)aAa>aGa	p.K94R	PALMD_ENST00000605497.1_Missense_Mutation_p.K94R	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	94					regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		GATCTTGAAAAAGCTGAACTG	0.368																																						ENST00000263174.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31						c.(280-282)aAa>aGa		palmdelphin							78	84	82					1																	100152261		2203	4300	6503	SO:0001583	missense	54873				regulation of cell shape	cytoplasm|membrane		g.chr1:100152261A>G	AJ312214	CCDS758.1	1p22-p21	2008-07-18			ENSG00000099260	ENSG00000099260			15846	protein-coding gene	gene with protein product		610182		C1orf11		11478809	Standard	NM_017734		Approved	FLJ20271, PALML	uc001dsg.3	Q9NP74	OTTHUMG00000010764	ENST00000263174.4:c.281A>G	1.37:g.100152261A>G	ENSP00000263174:p.Lys94Arg					PALMD_ENST00000605497.1_Missense_Mutation_p.K94R	p.K94R	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)	4	656	+		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)	94					Q9H7E6|Q9NPM5|Q9NPM6|Q9NPS0	Missense_Mutation	SNP	ENST00000263174.4	37	c.281A>G	CCDS758.1	.	.	.	.	.	.	.	.	.	.	A	13.51	2.259769	0.39995	.	.	ENSG00000099260	ENST00000263174	T	0.17213	2.29	5.87	1.0	0.19881	.	0.215311	0.48286	N	0.000190	T	0.05364	0.0142	L	0.45137	1.4	0.36516	D	0.869891	B	0.25048	0.117	B	0.25884	0.064	T	0.25502	-1.0130	10	0.25751	T	0.34	-17.382	10.5091	0.44851	0.6831:0.0:0.3169:0.0	.	94	Q9NP74	PALMD_HUMAN	R	94	ENSP00000263174:K94R	ENSP00000263174:K94R	K	+	2	0	PALMD	99924849	0.945000	0.32115	0.884000	0.34674	0.983000	0.72400	0.857000	0.27831	-0.014000	0.14175	0.533000	0.62120	AAA		0.368	PALMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029672.1	NM_017734		8	30	0	0	0	1	0	8	30					G	100152261	A	G	100152261	3	3	323	1	0	0	0	0	1	0	0	0	11411	14	1	3	295	3	PALMD	1	100152261	Missense_Mutation	SNP	A	TCGA-EM-A3FM-01A-11D-A21A-08		100152261	149098360	1	6816											
COL4A3	1285	broad.mit.edu	37	chr2	228118353	228118353	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactggcccagataacagaaCggtaactctgcgattttatg	9	9	1	2	rs573527081	byFrequency	TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr2:228118353C>T	ENST00000396578.3	+	13	926	c.764C>T	c.(763-765)aCg>aTg	p.T255M	AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000606119.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	255	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GATAACAGAACGGTAACTCTG	0.468													C|||	2	0.000399361	0	0	5008	,	,		17952	0		0	False		,,,				2504	0.002					ENST00000396578.3																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.e13+1		collagen, type IV, alpha 3 (Goodpasture antigen)							296	277	283					2																	228118353		1943	4144	6087	SO:0001630	splice_region_variant	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228118353C>T		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.765+1C>T	2.37:g.228118353C>T						AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000439598.2_RNA	p.T255_splice	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	13	926	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	255			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Splice_Site	SNP	ENST00000396578.3	37	c.765_splice	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870179	0.72065	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.94376	-3.41	5.59	5.59	0.84812	.	0.115539	0.38436	N	0.001697	D	0.95595	0.8568	L	0.60455	1.87	0.33974	D	0.647188	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.977;0.997;0.99;0.987	D	0.97171	0.9844	10	0.44086	T	0.13	.	15.0921	0.72204	0.0:1.0:0.0:0.0	.	255;255;255;255	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	M	255	ENSP00000379823:T255M	ENSP00000323334:T255M	T	+	2	0	COL4A3	227826597	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	2.581000	0.46077	2.628000	0.89032	0.655000	0.94253	ACG		0.468	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091	Missense_Mutation	4	142	0	0	0	1	0	4	142					T	228118353	C	T	228118353	5	4	323	1	0	0	0	0	0	0	1	0	3691	550	19	1	814	1	COL4A3	2	228118353	Splice_Site	SNP	C	TCGA-EM-A3FM-01A-11D-A21A-08		228118353	15081020	2	6817											
NBEAL2	23218	broad.mit.edu	37	chr3	47042545	47042545	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaacgtgctgttctcggtgAcgtggcgtggcgtggaaggc	17	10	1	1			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr3:47042545A>G	ENST00000450053.3	+	28	4539	c.4360A>G	c.(4360-4362)Acg>Gcg	p.T1454A	NBEAL2_ENST00000292309.5_Missense_Mutation_p.T1270A|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1454					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GTTCTCGGTGACGTGGCGTGG	0.632																																						ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(4360-4362)Acg>Gcg		neurobeachin-like 2							74	90	84					3																	47042545		2144	4243	6387	SO:0001583	missense	23218						binding	g.chr3:47042545A>G	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.4360A>G	3.37:g.47042545A>G	ENSP00000415034:p.Thr1454Ala					NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.T1270A	p.T1454A	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	28	4539	+		Acute lymphoblastic leukemia(5;0.0534)	1454					O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	c.4360A>G	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.81|11.81	1.749945|1.749945	0.30955|0.30955	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000292309;ENST00000450053|ENST00000416683	T;T|.	0.56103|.	0.5;0.48|.	5.26|5.26	4.1|4.1	0.47936|0.47936	.|.	0.360379|.	0.28784|.	N|.	0.014146|.	T|.	0.51991|.	0.1707|.	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	P|.	0.38395|.	0.629|.	B|.	0.44108|.	0.441|.	T|.	0.43877|.	-0.9364|.	10|.	0.20519|.	T|.	0.43|.	.|.	9.3351|9.3351	0.38045|0.38045	0.9153:0.0:0.0847:0.0|0.9153:0.0:0.0847:0.0	.|.	1454|.	Q6ZNJ1|.	NBEL2_HUMAN|.	A|W	1270;1454|741	ENSP00000292309:T1270A;ENSP00000415034:T1454A|.	ENSP00000292309:T1270A|.	T|X	+|+	1|3	0|0	NBEAL2|NBEAL2	47017549|47017549	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.443000|0.443000	0.32047|0.32047	3.698000|3.698000	0.54771|0.54771	1.012000|1.012000	0.39366|0.39366	0.533000|0.533000	0.62120|0.62120	ACG|TGA		0.632	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		3	49	0	0	0	1	0	3	49					G	47042545	A	G	47042545	3	3	323	1	0	0	0	0	1	0	0	0	10189	275	10	3	4470	3	NBEAL2	3	47042545	Missense_Mutation	SNP	A	TCGA-EM-A3FM-01A-11D-A21A-08		47042545	150979885	3	6818											
SLC15A2	6565	broad.mit.edu	37	chr3	121616260	121616260	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgatcctgtatttcctgtaTttcctgcactggaatgaaga	8	9	0	3			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr3:121616260T>C	ENST00000489711.1	+	3	607	c.219T>C	c.(217-219)taT>taC	p.Y73Y	SLC15A2_ENST00000295605.2_Silent_p.Y73Y	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	73			Y -> C (in dbSNP:rs1143667).		drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	ATTTCCTGTATTTCCTGCACT	0.433																																						ENST00000489711.1																			0				NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36						c.(217-219)taT>taC		solute carrier family 15 (oligopeptide transporter), member 2	Cefadroxil(DB01140)						131	129	130					3																	121616260		2203	4300	6503	SO:0001819	synonymous_variant	6565				protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	g.chr3:121616260T>C	BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"Solute carriers"	10921	protein-coding gene	gene with protein product		602339	"solute carrier family 15 (H+/peptide transporter), member 2"			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.219T>C	3.37:g.121616260T>C						SLC15A2_ENST00000295605.2_Silent_p.Y73Y	p.Y73Y	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN		GBM - Glioblastoma multiforme(114;0.0967)	3	607	+			73		Y -> C (in dbSNP:rs1143667).			A8K1A5|B4E2A7	Silent	SNP	ENST00000489711.1	37	c.219T>C	CCDS3007.1																																																																																				0.433	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082		57	67	0	0	0	1	0	57	67					C	121616260	T	C	121616260	2	2	323	1	0	0	0	0	0	0	0	1	14399	1500	52	3		3	SLC15A2	3	121616260	Silent	SNP	T	TCGA-EM-A3FM-01A-11D-A21A-08	74573715	121616260	76406170	4	6819											
ZNF148	7707	broad.mit.edu	37	chr3	124952243	124952243	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	attatcaacctgatcaatgtCagcattgccttctgagtcca	6	11	4	2			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr3:124952243C>G	ENST00000360647.4	-	9	1812	c.1327G>C	c.(1327-1329)Gac>Cac	p.D443H	ZNF148_ENST00000485866.1_Missense_Mutation_p.D443H|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000484491.1_Missense_Mutation_p.D443H|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.D443H|ZNF148_ENST00000468369.1_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	443					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|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)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TGATCAATGTCAGCATTGCCT	0.393																																						ENST00000360647.4																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						c.(1327-1329)Gac>Cac		zinc finger protein 148							97	92	94					3																	124952243		2203	4300	6503	SO:0001583	missense	7707				cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chr3:124952243C>G	U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"Zinc fingers, C2H2-type"	12933	protein-coding gene	gene with protein product		601897	"zinc finger protein 148 (pHZ-52)"			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.1327G>C	3.37:g.124952243C>G	ENSP00000353863:p.Asp443His					ZNF148_ENST00000492394.1_Missense_Mutation_p.D443H|ZNF148_ENST00000544464.1_Intron|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000484491.1_Missense_Mutation_p.D443H|ZNF148_ENST00000485866.1_Missense_Mutation_p.D443H|ZNF148_ENST00000468369.1_Intron	p.D443H	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN			9	1812	-			443					D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	ENST00000360647.4	37	c.1327G>C	CCDS3031.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095500	0.76870	.	.	ENSG00000163848	ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.31	5.31	0.75309	.	0.045975	0.85682	D	0.000000	T	0.60143	0.2246	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.65987	0.94	T	0.61491	-0.7052	10	0.66056	D	0.02	-12.7842	19.1738	0.93594	0.0:1.0:0.0:0.0	.	443	Q9UQR1	ZN148_HUMAN	H	443	ENSP00000353863:D443H;ENSP00000420335:D443H;ENSP00000419322:D443H;ENSP00000420448:D443H	ENSP00000353863:D443H	D	-	1	0	ZNF148	126434933	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.320000	0.79064	2.764000	0.94973	0.655000	0.94253	GAC		0.393	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964		3	67	0	0	0	1	0	3	67					G	124952243	C	G	124952243	3	3	323	1	0	0	0	0	1	0	0	0	17731	826	29	4	1061	4	ZNF148	3	124952243	Missense_Mutation	SNP	C	TCGA-EM-A3FM-01A-11D-A21A-08	3335983	124952243	73070187	5	6820											
C7	730	broad.mit.edu	37	chr5	40937653	40937653	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctcctcctccttttaacaGttacaatgaactcactggcc	4	15	1	1			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr5:40937653G>T	ENST00000313164.9	+	6	787		c.e6-1			NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7						cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				CCTTTTAACAGTTACAATGAA	0.378																																						ENST00000313164.9																			0											c.e6-1		complement component 7							90	83	85					5																	40937653		1830	4080	5910	SO:0001630	splice_region_variant	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40937653G>T	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"Complement system"	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.429-1G>T	5.37:g.40937653G>T								NM_000587.2	NP_000578.2	P10643	CO7_HUMAN			6	787	+		Ovarian(839;0.0112)						Q6P3T5|Q92489	Splice_Site	SNP	ENST00000313164.9	37		CCDS47201.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120528	0.77323	.	.	ENSG00000112936	ENST00000313164;ENST00000440677;ENST00000515157	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6524	0.91435	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C7	40973410	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.992000	0.76238	2.941000	0.99782	0.655000	0.94253	.		0.378	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1		Intron	8	14	1	0	0.00829132	1	0.00847557	8	14					T	40937653	G	T	40937653	5	4	323	1	0	0	0	0	0	0	1	0	2375	1043	36	4	450	4	C7	5	40937653	Splice_Site	SNP	G	TCGA-EM-A3FM-01A-11D-A21A-08		40937653	139977607	6	6821											
LARP1	23367	broad.mit.edu	37	chr5	154181822	154181822	+	Frame_Shift_Del	DEL	G	G	-													attacatgcgccggcacccaGggggggaccgcacaggcaac							TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr5:154181822delG	ENST00000336314.4	+	11	1765	c.1741delG	c.(1741-1743)gggfs	p.G582fs		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	659					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCGGCACCCAGGGGGGGACCG	0.547																																						ENST00000336314.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1741-1743)ggfs		La ribonucleoprotein domain family, member 1							79	76	77					5																	154181822		2203	4300	6503	SO:0001589	frameshift_variant	23367						protein binding|RNA binding	g.chr5:154181822delG	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"La ribonucleoprotein domain containing"	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1741delG	5.37:g.154181822delG	ENSP00000336721:p.Gly582fs						p.G582fs	NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		11	1765	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	659					O94836|Q8N4M2|Q8NB73|Q9UFD7	Frame_Shift_Del	DEL	ENST00000336314.4	37	c.1741delG	CCDS4328.1																																																																																				0.547	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		7	148						7	148	---	---	---	---	-	154181822	G	-	154181822	7	5	323	1	0	1	0	1	0	0	0	0	8628	1000	35	0	1783	0	LARP1	5	154181822	Frame_Shift_Del	DEL	G	TCGA-EM-A3FM-01A-11D-A21A-08	113244169	154181822	26733438	7	6822											
TMEM181	57583	broad.mit.edu	37	chr6	158957887	158957887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacgcccttcaaggatgacCgctactacaggtgggcgcgg	13	13	2	1			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr6:158957887C>T	ENST00000367090.3	+	1	420	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	137					pathogenesis (GO:0009405)	integral component of membrane (GO:0016021)	toxic substance binding (GO:0015643)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		CAAGGATGACCGCTACTACAG	0.746																																						ENST00000367090.3																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22						c.(409-411)Cgc>Tgc		transmembrane protein 181							15	19	17					6																	158957887		1877	4039	5916	SO:0001583	missense	57583				pathogenesis	integral to membrane	toxin binding	g.chr6:158957887C>T	AB037844	CCDS43520.1	6q25.3	2012-08-10	2006-10-19	2006-10-19	ENSG00000146433	ENSG00000146433			20958	protein-coding gene	gene with protein product		613209	"G protein-coupled receptor 178", "KIAA1423"	KIAA1423, GPR178		16452613	Standard	NM_020823		Approved		uc003qrm.4	Q9P2C4	OTTHUMG00000015913	ENST00000367090.3:c.409C>T	6.37:g.158957887C>T	ENSP00000356057:p.Arg137Cys						p.R137C	NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)	1	420	+		Breast(66;0.000776)|Ovarian(120;0.0303)	137					Q5VTU1	Missense_Mutation	SNP	ENST00000367090.3	37	c.409C>T	CCDS43520.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.912685	0.92178	.	.	ENSG00000146433	ENST00000367090	.	.	.	4.05	4.05	0.47172	.	0.135532	0.51477	D	0.000093	T	0.60599	0.2281	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.66878	-0.5812	9	0.87932	D	0	.	14.4036	0.67065	0.0:1.0:0.0:0.0	.	137	Q9P2C4	TM181_HUMAN	C	137	.	ENSP00000356057:R137C	R	+	1	0	TMEM181	158877875	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.199000	0.65152	1.827000	0.53221	0.561000	0.74099	CGC		0.746	TMEM181-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042873.1	NM_020823		5	39	0	0	0	1	0	5	39					T	158957887	C	T	158957887	3	4	323	1	0	0	0	0	1	0	0	0	16097	652	23	1	411	1	TMEM181	6	158957887	Missense_Mutation	SNP	C	TCGA-EM-A3FM-01A-11D-A21A-08		158957887	12157180	8	6823											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		25	45	0	0	0	1	0	25	45					T	140453136	A	T	140453136	3	4	323	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A3FM-01A-11D-A21A-08		140453136	18685527	9	6824											
NUP214	8021	broad.mit.edu	37	chr9	134004831	134004831	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaaacagtgaaagtatgtGcaactcttccttccacggta	9	10	1	1			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr9:134004831G>A	ENST00000359428.5	+	4	703	c.559G>A	c.(559-561)Gca>Aca	p.A187T	NUP214_ENST00000411637.2_Missense_Mutation_p.A187T|NUP214_ENST00000451030.1_Missense_Mutation_p.A187T|RNU6-881P_ENST00000516813.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	187	Seven-bladed beta propeller.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GAAAGTATGTGCAACTCTTCC	0.448			T	"DEK, SET, ABL1"	"AML, T-ALL"																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"DEK, SET, ABL1"		"AML, T-ALL"		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(559-561)Gca>Aca		nucleoporin 214kDa							244	193	210					9																	134004831		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134004831G>A	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"nuclear pore complex protein Nup214", "CAN protein, putative oncogene"	114350	"nucleoporin 214kD (CAIN)"			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.559G>A	9.37:g.134004831G>A	ENSP00000352400:p.Ala187Thr					NUP214_ENST00000411637.2_Missense_Mutation_p.A187T|NUP214_ENST00000451030.1_Missense_Mutation_p.A187T	p.A187T			P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	4	703	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	187					A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.559G>A	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972750	0.92919	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375	D;D;D	0.93953	-3.32;-3.32;-3.32	4.94	4.94	0.65067	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.38111	N	0.001814	D	0.95840	0.8646	M	0.63843	1.955	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.68483	0.958;0.958	D	0.96175	0.9126	10	0.66056	D	0.02	-12.615	17.5111	0.87760	0.0:0.0:1.0:0.0	.	187;187	P35658-4;P35658	.;NU214_HUMAN	T	187	ENSP00000352400:A187T;ENSP00000396576:A187T;ENSP00000405014:A187T	ENSP00000352400:A187T	A	+	1	0	NUP214	132994652	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.694000	0.68272	2.434000	0.82447	0.655000	0.94253	GCA		0.448	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		15	176	0	0	0	1	0	15	176					A	134004831	G	A	134004831	3	1	323	1	0	0	0	0	1	0	0	0	10762	1319	46	2	573	2	NUP214	9	134004831	Missense_Mutation	SNP	G	TCGA-EM-A3FM-01A-11D-A21A-08		134004831	7208600	10	6825											
ADARB2	105	broad.mit.edu	37	chr10	1229245	1229245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacagactggtaggtgtgcGcccccagcttggcctcacag	12	14	2	1			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr10:1229245G>A	ENST00000381312.1	-	10	2433	c.2108C>T	c.(2107-2109)gCg>gTg	p.A703V	ADARB2_ENST00000381310.3_Missense_Mutation_p.A212V|ADARB2_ENST00000381305.1_Missense_Mutation_p.A105V	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	703	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GTAGGTGTGCGCCCCCAGCTT	0.592																																						ENST00000381312.1																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(2107-2109)gCg>gTg		adenosine deaminase, RNA-specific, B2 (non-functional)							63	59	60					10																	1229245		2203	4300	6503	SO:0001583	missense	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1229245G>A	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"RED2 homolog (rat)"	602065	"adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)", "adenosine deaminase, RNA-specific, B2"			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.2108C>T	10.37:g.1229245G>A	ENSP00000370713:p.Ala703Val					ADARB2_ENST00000381310.3_Missense_Mutation_p.A212V|ADARB2_ENST00000381305.1_Missense_Mutation_p.A105V	p.A703V	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	10	2433	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	703			A to I editase.		B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	c.2108C>T	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049338	0.75846	.	.	ENSG00000185736	ENST00000381312;ENST00000381310;ENST00000381305	D;D;D	0.94862	-3.54;-3.54;-3.54	5.32	5.32	0.75619	Adenosine deaminase/editase (3);	0.104162	0.64402	D	0.000003	D	0.96488	0.8854	M	0.70787	2.145	0.58432	D	0.999998	D;D;D	0.89917	0.995;0.999;1.0	P;P;D	0.87578	0.559;0.622;0.998	D	0.95478	0.8558	10	0.34782	T	0.22	-24.9767	13.9181	0.63914	0.0:0.0:0.8479:0.1521	.	703;105;212	Q9NS39;Q5VW43;Q5VW42	RED2_HUMAN;.;.	V	703;212;105	ENSP00000370713:A703V;ENSP00000370711:A212V;ENSP00000370706:A105V	ENSP00000370706:A105V	A	-	2	0	ADARB2	1219245	1.000000	0.71417	0.961000	0.40146	0.987000	0.75469	6.563000	0.73964	2.502000	0.84385	0.561000	0.74099	GCG		0.592	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		5	35	0	0	0	1	0	5	35					A	1229245	G	A	1229245	3	1	323	1	0	0	0	0	1	0	0	0	283	1087	38	1	115	1	ADARB2	10	1229245	Missense_Mutation	SNP	G	TCGA-EM-A3FM-01A-11D-A21A-08		1229245	134305502	11	6826											
FRMD4A	55691	broad.mit.edu	37	chr10	13708265	13708265	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcactggctaggcggcgggCggcctccgtaatctgggact	16	12	2	0			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr10:13708265C>T	ENST00000357447.2	-	18	1803	c.1435G>A	c.(1435-1437)Gcc>Acc	p.A479T	FRMD4A_ENST00000358621.4_Missense_Mutation_p.A464T|FRMD4A_ENST00000378503.1_Missense_Mutation_p.A479T	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	479					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						AGGCGGCGGGCGGCCTCCGTA	0.527																																						ENST00000357447.2																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(1435-1437)Gcc>Acc		FERM domain containing 4A							70	71	71					10																	13708265		2203	4300	6503	SO:0001583	missense	55691					cytoplasm|cytoskeleton	binding	g.chr10:13708265C>T	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"FERM domain containing 4"	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.1435G>A	10.37:g.13708265C>T	ENSP00000350032:p.Ala479Thr					FRMD4A_ENST00000378503.1_Missense_Mutation_p.A479T|FRMD4A_ENST00000358621.4_Missense_Mutation_p.A464T	p.A479T	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN			18	1803	-			479					A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	c.1435G>A	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	C	34	5.376061	0.95923	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503;ENST00000264546	D;D;D;D	0.90444	-2.66;-2.67;-2.67;-2.43	5.05	5.05	0.67936	.	0.048900	0.85682	D	0.000000	D	0.94584	0.8255	M	0.67569	2.06	0.80722	D	1	D;P	0.76494	0.999;0.93	D;P	0.70016	0.967;0.711	D	0.94522	0.7728	10	0.56958	D	0.05	-22.9481	18.5945	0.91225	0.0:1.0:0.0:0.0	.	512;479	Q5T376;Q9P2Q2	.;FRM4A_HUMAN	T	464;479;479;512	ENSP00000351438:A464T;ENSP00000350032:A479T;ENSP00000367764:A479T;ENSP00000264546:A512T	ENSP00000264546:A512T	A	-	1	0	FRMD4A	13748271	1.000000	0.71417	0.996000	0.52242	0.882000	0.50991	5.817000	0.69229	2.641000	0.89580	0.561000	0.74099	GCC		0.527	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		13	31	0	0	0	1	0	13	31					T	13708265	C	T	13708265	3	4	323	1	0	0	0	0	1	0	0	0	6051	768	27	1	1712	1	FRMD4A	10	13708265	Missense_Mutation	SNP	C	TCGA-EM-A3FM-01A-11D-A21A-08	12479020	13708265	121826482	12	6827											
KRTAP5-7	440050	broad.mit.edu	37	chr11	71238544	71238544	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgggggctccaagggaggCtgtggctcctgtgggggctc	20	9	0	0			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr11:71238544C>T	ENST00000398536.4	+	1	232	c.198C>T	c.(196-198)ggC>ggT	p.G66G		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	66	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.G66G(1)		breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						CCAAGGGAGGCTGTGGCTCCT	0.652																																						ENST00000398536.4																			1	Substitution - coding silent(1)	p.G66G(1)	breast(1)	breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						c.(196-198)ggC>ggT		keratin associated protein 5-7							79	108	98					11																	71238544		2196	4286	6482	SO:0001819	synonymous_variant	440050					keratin filament		g.chr11:71238544C>T	AB126076	CCDS41682.1	11q13.4	2008-02-05			ENSG00000244411	ENSG00000244411		"Keratin associated proteins"	23602	protein-coding gene	gene with protein product						15144888	Standard	NM_001012503		Approved	KRTAP5.7, KRTAP5-3	uc001oqq.1	Q6L8G8	OTTHUMG00000057570	ENST00000398536.4:c.198C>T	11.37:g.71238544C>T							p.G66G	NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN			1	232	+			66			7 X 4 AA repeats of C-C-X-P.		B2RNM3|Q701N5	Silent	SNP	ENST00000398536.4	37	c.198C>T	CCDS41682.1																																																																																				0.652	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1			8	352	0	0	0	1	0	8	352					T	71238544	C	T	71238544	2	4	323	1	0	0	0	0	0	0	0	1	8566	784	28	2		2	KRTAP5-7	11	71238544	Silent	SNP	C	TCGA-EM-A3FM-01A-11D-A21A-08		71238544	63767972	13	6828											
ADAMTS15	170689	broad.mit.edu	37	chr11	130339245	130339245	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gctggccaggaggcagtgcaCcaaccccacccctgccaacg	11	18	0	0			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr11:130339245C>G	ENST00000299164.2	+	5	1631	c.1631C>G	c.(1630-1632)aCc>aGc	p.T544S		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	544	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	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;0.0631)|Lung(977;0.215)		AGGCAGTGCACCAACCCCACC	0.642																																						ENST00000299164.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36						c.(1630-1632)aCc>aGc		ADAM metallopeptidase with thrombospondin type 1 motif, 15							55	45	48					11																	130339245		2201	4297	6498	SO:0001583	missense	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130339245C>G	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"ADAM metallopeptidases with thrombospondin type 1 motif"	16305	protein-coding gene	gene with protein product		607509	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.1631C>G	11.37:g.130339245C>G	ENSP00000299164:p.Thr544Ser						p.T544S	NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	5	1631	+	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)	544			TSP type-1 1.		Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	c.1631C>G	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.360736	0.24598	.	.	ENSG00000166106	ENST00000299164	T	0.51071	0.72	5.49	1.32	0.21799	.	.	.	.	.	T	0.30293	0.0760	N	0.21097	0.63	0.27579	N	0.949635	B	0.02656	0.0	B	0.04013	0.001	T	0.19192	-1.0313	9	0.37606	T	0.19	.	7.0325	0.24975	0.2575:0.5133:0.2292:0.0	.	544	Q8TE58	ATS15_HUMAN	S	544	ENSP00000299164:T544S	ENSP00000299164:T544S	T	+	2	0	ADAMTS15	129844455	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.932000	0.40143	0.295000	0.22570	-0.165000	0.13383	ACC		0.642	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		7	52	0	0	0	1	0	7	52					G	130339245	C	G	130339245	3	3	323	1	0	0	0	0	1	0	0	0	260	507	18	4	1649	4	ADAMTS15	11	130339245	Missense_Mutation	SNP	C	TCGA-EM-A3FM-01A-11D-A21A-08	59100701	130339245	4667271	14	6829											
LTBP2	4053	broad.mit.edu	37	chr14	74971835	74971835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagtccatgcgggtggggGccggggcatggtcccccgtt	18	12	0	0			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr14:74971835G>A	ENST00000261978.4	-	29	4606	c.4220C>T	c.(4219-4221)gCc>gTc	p.A1407V	LTBP2_ENST00000556690.1_Missense_Mutation_p.A1363V	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1407					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GCGGGTGGGGGCCGGGGCATG	0.622																																						ENST00000261978.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(4219-4221)gCc>gTc		latent transforming growth factor beta binding protein 2							35	38	37					14																	74971835		2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74971835G>A		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"Latent transforming growth factor, beta binding proteins"	6715	protein-coding gene	gene with protein product		602091	"chromosome 14 open reading frame 141"	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.4220C>T	14.37:g.74971835G>A	ENSP00000261978:p.Ala1407Val					LTBP2_ENST00000556690.1_Missense_Mutation_p.A1363V	p.A1407V	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	29	4606	-			1407					Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.4220C>T	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	G	9.685	1.150296	0.21371	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.78481	-1.17;-1.18	4.73	2.9	0.33743	Matrix fibril-associated (1);	1.016850	0.07916	N	0.975130	T	0.56077	0.1961	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44205	-0.9343	10	0.32370	T	0.25	.	8.2758	0.31871	0.0:0.4677:0.4431:0.0892	.	1407	Q14767	LTBP2_HUMAN	V	1407;1363	ENSP00000261978:A1407V;ENSP00000451477:A1363V	ENSP00000261978:A1407V	A	-	2	0	LTBP2	74041588	0.133000	0.22466	0.018000	0.16275	0.001000	0.01503	0.328000	0.19681	0.605000	0.29947	-1.107000	0.02091	GCC		0.622	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		4	66	0	0	0	1	0	4	66					A	74971835	G	A	74971835	3	1	323	1	0	0	0	0	1	0	0	0	9074	1203	42	2	1277	2	LTBP2	14	74971835	Missense_Mutation	SNP	G	TCGA-EM-A3FM-01A-11D-A21A-08		74971835	32377705	15	6830											
SERPINA12	145264	broad.mit.edu	37	chr14	94964650	94964650	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctcgctcaaagctttataatTccttggtgagaagctcggct	9	10	1	1			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr14:94964650T>A	ENST00000341228.2	-	3	880	c.85A>T	c.(85-87)Aat>Tat	p.N29Y	SERPINA12_ENST00000556881.1_Missense_Mutation_p.N29Y	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	29					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GCTTTATAATTCCTTGGTGAG	0.473																																						ENST00000341228.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(85-87)Aat>Tat		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12							124	124	124					14																	94964650		2203	4300	6503	SO:0001583	missense	145264				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94964650T>A	AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"Serine (or cysteine) peptidase inhibitors"	18359	protein-coding gene	gene with protein product			"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.85A>T	14.37:g.94964650T>A	ENSP00000342109:p.Asn29Tyr					SERPINA12_ENST00000556881.1_Missense_Mutation_p.N29Y	p.N29Y	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN		COAD - Colon adenocarcinoma(157;0.235)	3	880	-			29						Missense_Mutation	SNP	ENST00000341228.2	37	c.85A>T	CCDS9926.1	.	.	.	.	.	.	.	.	.	.	T	10.48	1.363406	0.24684	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.87966	-2.32;-2.32	5.75	-0.933	0.10431	Serpin domain (1);	0.981567	0.08330	N	0.962506	T	0.69088	0.3072	N	0.08118	0	0.09310	N	1	B	0.14805	0.011	B	0.12156	0.007	T	0.54282	-0.8317	10	0.40728	T	0.16	.	0.8984	0.01269	0.223:0.2654:0.1153:0.3963	.	29	Q8IW75	SPA12_HUMAN	Y	29	ENSP00000451738:N29Y;ENSP00000342109:N29Y	ENSP00000342109:N29Y	N	-	1	0	SERPINA12	94034403	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.011000	0.13264	-0.390000	0.07774	0.533000	0.62120	AAT		0.473	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	NM_173850		4	87	0	0	0	1	0	4	87					A	94964650	T	A	94964650	3	1	323	1	0	0	0	0	1	0	0	0	14089	1783	62	5	1175	5	SERPINA12	14	94964650	Missense_Mutation	SNP	T	TCGA-EM-A3FM-01A-11D-A21A-08	19992815	94964650	12384890	16	6831											
AKAP13	11214	broad.mit.edu	37	chr15	86270359	86270359	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agagaagtggcacatgaggaGaaaggtttattcctgatcag	13	5	1	4			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr15:86270359G>A	ENST00000394518.2	+	28	6980	c.6885G>A	c.(6883-6885)gaG>gaA	p.E2295E	AKAP13_ENST00000361243.2_Silent_p.E2299E|RP11-158M2.2_ENST00000561417.1_RNA|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Silent_p.E540E	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2295	Interaction with ESR1.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CACATGAGGAGAAAGGTTTAT	0.433																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(6883-6885)gaG>gaA		A kinase (PRKA) anchor protein 13							114	100	105					15																	86270359		2202	4299	6501	SO:0001819	synonymous_variant	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86270359G>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.6885G>A	15.37:g.86270359G>A						RP11-158M2.2_ENST00000561417.1_RNA|AKAP13_ENST00000394510.2_Silent_p.E540E|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Silent_p.E2299E	p.E2295E	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			28	6980	+			2295			Interaction with ESR1.|PH.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	c.6885G>A	CCDS32319.1																																																																																				0.433	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		7	57	0	0	0	1	0	7	57					A	86270359	G	A	86270359	2	1	323	1	0	0	0	0	0	0	0	1	449	933	33	2		2	AKAP13	15	86270359	Silent	SNP	G	TCGA-EM-A3FM-01A-11D-A21A-08		86270359	16261033	17	6832											
CHD3	1107	broad.mit.edu	37	chr17	7797853	7797853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgtgacacctgccctcGtgcctaccacctcgtctgcc	8	18	2	1	rs144356754		TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr17:7797853G>A	ENST00000330494.7	+	8	1346	c.1196G>A	c.(1195-1197)cGt>cAt	p.R399H	CHD3_ENST00000380358.4_Missense_Mutation_p.R458H|CHD3_ENST00000358181.4_Missense_Mutation_p.R399H	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	399					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)				ACCTGCCCTCGTGCCTACCAC	0.577																																						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.(1372-1374)cGt>cAt		chromodomain helicase DNA binding protein 3		G	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	178	131	147		1373,1196,1196	4.8	1.0	17	dbSNP_134	147	0,8600		0,0,4300	yes	missense,missense,missense	CHD3	NM_001005271.2,NM_001005273.2,NM_005852.3	29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	458/2060,399/2001,399/1967	7797853	1,13005	2203	4300	6503	SO:0001583	missense	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.chr17:7797853G>A	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.1196G>A	17.37:g.7797853G>A	ENSP00000332628:p.Arg399His					CHD3_ENST00000358181.4_Missense_Mutation_p.R399H|CHD3_ENST00000330494.7_Missense_Mutation_p.R399H	p.R458H	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			8	1374	+		Prostate(122;0.202)	399					D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.1373G>A	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869422	0.72065	2.27E-4	0.0	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.94897	-3.55;-3.55;-3.55	4.81	4.81	0.61882	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.299131	0.24269	N	0.040014	D	0.97170	0.9075	M	0.78223	2.4	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.994;0.997;0.998	D	0.97815	1.0253	10	0.87932	D	0	-1.4663	18.0617	0.89379	0.0:0.0:1.0:0.0	.	399;399;458	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	H	458;399;399	ENSP00000369716:R458H;ENSP00000350907:R399H;ENSP00000332628:R399H	ENSP00000332628:R399H	R	+	2	0	CHD3	7738578	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.537000	0.98070	2.499000	0.84300	0.557000	0.71058	CGT		0.577	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		7	184	0	0	0	1	0	7	184					A	7797853	G	A	7797853	3	1	323	1	0	0	0	0	1	0	0	0	3326	1145	40	1	1507	1	CHD3	17	7797853	Missense_Mutation	SNP	G	TCGA-EM-A3FM-01A-11D-A21A-08		7797853	73397357	18	6833											
MAPK4	5596	broad.mit.edu	37	chr18	48190438	48190438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatggtttggtgctgtcggCcgtggacagccgggcctgcc	16	12	0	0			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr18:48190438C>T	ENST00000400384.2	+	2	1146	c.110C>T	c.(109-111)gCc>gTc	p.A37V	MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000588540.1_Missense_Mutation_p.A37V|MAPK4_ENST00000592595.1_Missense_Mutation_p.A37V	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	37	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GTGCTGTCGGCCGTGGACAGC	0.597																																						ENST00000400384.2																			0				lung(4)|skin(3)|upper_aerodigestive_tract(1)	8						c.(109-111)gCc>gTc		mitogen-activated protein kinase 4							78	86	84					18																	48190438		2107	4223	6330	SO:0001583	missense	5596				cell cycle		ATP binding|MAP kinase activity	g.chr18:48190438C>T	X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"Mitogen-activated protein kinase cascade / Kinases"	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.110C>T	18.37:g.48190438C>T	ENSP00000383234:p.Ala37Val					MAPK4_ENST00000588540.1_Missense_Mutation_p.A37V|MAPK4_ENST00000592595.1_Missense_Mutation_p.A37V|MAPK4_ENST00000540640.1_Intron	p.A37V	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN		Colorectal(21;0.156)	2	1146	+		Colorectal(6;0.0297)	37			Protein kinase.		A1A4C4|Q0VG04	Missense_Mutation	SNP	ENST00000400384.2	37	c.110C>T	CCDS42437.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.949295	0.73787	.	.	ENSG00000141639	ENST00000400384	T	0.55413	0.52	5.87	5.87	0.94306	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	0.64402	D	0.000002	T	0.68842	0.3045	L	0.51853	1.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.977	T	0.67806	-0.5575	10	0.56958	D	0.05	-4.502	18.9662	0.92697	0.0:1.0:0.0:0.0	.	37;37	Q0VG04;P31152	.;MK04_HUMAN	V	37	ENSP00000383234:A37V	ENSP00000383234:A37V	A	+	2	0	MAPK4	46444436	1.000000	0.71417	0.174000	0.22961	0.098000	0.18820	7.815000	0.86186	2.780000	0.95670	0.561000	0.74099	GCC		0.597	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2	NM_002747		8	118	0	0	0	1	0	8	118					T	48190438	C	T	48190438	3	4	323	1	0	0	0	0	1	0	0	0	9280	739	26	2	112	2	MAPK4	18	48190438	Missense_Mutation	SNP	C	TCGA-EM-A3FM-01A-11D-A21A-08		48190438	29886810	19	6834											
ZNF136	7695	broad.mit.edu	37	chr19	12297911	12297911	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcacttgtatcacaagtgttCgaagacacatgataaagcac	7	9	2	2			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr19:12297911C>T	ENST00000343979.4	+	4	858	c.718C>T	c.(718-720)Cga>Tga	p.R240*	ZNF136_ENST00000398616.2_Nonsense_Mutation_p.R174*	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	240					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						CACAAGTGTTCGAAGACACAT	0.393																																						ENST00000343979.4																			0				NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						c.(718-720)Cga>Tga		zinc finger protein 136							89	82	84					19																	12297911		2203	4300	6503	SO:0001587	stop_gained	7695				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:12297911C>T	U09367	CCDS32916.1	19p13.2	2013-01-08	2006-06-13		ENSG00000196646	ENSG00000196646		"Zinc fingers, C2H2-type", "-"	12920	protein-coding gene	gene with protein product		604078	"zinc finger protein 136 (clone pHZ-20)"			7557990	Standard	NM_003437		Approved	pHZ-20	uc002mti.3	P52737	OTTHUMG00000156429	ENST00000343979.4:c.718C>T	19.37:g.12297911C>T	ENSP00000344162:p.Arg240*					ZNF136_ENST00000398616.2_Nonsense_Mutation_p.R174*	p.R240*	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN			4	858	+			240						Nonsense_Mutation	SNP	ENST00000343979.4	37	c.718C>T	CCDS32916.1	.	.	.	.	.	.	.	.	.	.	C	34	5.318385	0.95682	.	.	ENSG00000196646	ENST00000343979;ENST00000398616	.	.	.	1.37	0.203	0.15195	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.495	0.07651	0.2898:0.4234:0.2868:0.0	.	.	.	.	X	240;174	.	.	R	+	1	2	ZNF136	12158911	.	.	0.011000	0.14972	0.998000	0.95712	.	.	0.117000	0.18138	0.650000	0.86243	CGA		0.393	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344151.2	NM_003437		28	35	0	0	0	1	0	28	35					T	12297911	C	T	12297911	4	4	323	1	0	0	0	0	0	1	0	0	17723	876	31	1	732	1	ZNF136	19	12297911	Nonsense_Mutation	SNP	C	TCGA-EM-A3FM-01A-11D-A21A-08		12297911	46831072	20	6835											
ZNF649	65251	broad.mit.edu	37	chr19	52394652	52394652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgttcagtgagcctgtacCtcttgtagaaggctttccca	10	11	2	2	rs200081147		TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr19:52394652C>T	ENST00000354957.3	-	5	1021	c.737G>A	c.(736-738)aGg>aAg	p.R246K	CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Splice_Site	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	246					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		GAGCCTGTACCTCTTGTAGAA	0.502																																						ENST00000354957.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29						c.(736-738)aGg>aAg		zinc finger protein 649							126	123	124					19																	52394652		2203	4300	6503	SO:0001583	missense	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52394652C>T	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"Zinc fingers, C2H2-type", "-"	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.737G>A	19.37:g.52394652C>T	ENSP00000347043:p.Arg246Lys					CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Splice_Site	p.R246K	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	5	1021	-		all_neural(266;0.0602)	246					A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	ENST00000354957.3	37	c.737G>A	CCDS12843.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	0.012	-1.651653	0.00785	.	.	ENSG00000198093	ENST00000354957	T	0.03951	3.75	2.35	-2.86	0.05717	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01661	0.0053	N	0.02708	-0.52	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45862	-0.9232	9	0.02654	T	1	.	8.4533	0.32884	0.0:0.4449:0.0:0.5551	.	246	Q9BS31	ZN649_HUMAN	K	246	ENSP00000347043:R246K	ENSP00000347043:R246K	R	-	2	0	ZNF649	57086464	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.392000	0.02523	-0.839000	0.04212	-1.750000	0.00680	AGG		0.502	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		4	90	0	0	0	1	0	4	90					T	52394652	C	T	52394652	3	4	323	1	0	0	0	0	1	0	0	0	18061	681	24	2	784	2	ZNF649	19	52394652	Missense_Mutation	SNP	C	TCGA-EM-A3FM-01A-11D-A21A-08	40096741	52394652	6734331	21	6836											
ZNF341	84905	broad.mit.edu	37	chr20	32336877	32336877	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagggccccccacctgtgcAggtaagaaggtgtgggcttc	14	13	0	1			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr20:32336877A>G	ENST00000375200.1	+	4	853	c.488A>G	c.(487-489)cAg>cGg	p.Q163R	ZNF341_ENST00000342427.2_Splice_Site_p.Q163R	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	163	Pro-rich.				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(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CCACCTGTGCAGGTAAGAAGG	0.557																																						ENST00000375200.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						c.e4+1		zinc finger protein 341							61	53	56					20																	32336877		2203	4300	6503	SO:0001630	splice_region_variant	84905				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:32336877A>G	AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"Zinc fingers, C2H2-type"	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.489+1A>G	20.37:g.32336877A>G						ZNF341_ENST00000342427.2_Splice_Site_p.Q163_splice	p.Q163_splice			Q9BYN7	ZN341_HUMAN			4	853	+			163			Pro-rich.		A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Splice_Site	SNP	ENST00000375200.1	37	c.489_splice		.	.	.	.	.	.	.	.	.	.	A	24.8	4.569675	0.86439	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	T;T	0.10288	3.13;2.89	5.83	4.67	0.58626	.	0.058627	0.64402	D	0.000001	T	0.22399	0.0540	L	0.58101	1.795	0.58432	D	0.999996	D;D;D	0.63880	0.993;0.986;0.992	P;P;P	0.57009	0.777;0.651;0.811	T	0.00412	-1.1755	10	0.44086	T	0.13	-25.2078	12.7153	0.57111	0.8628:0.1372:0.0:0.0	.	104;163;163	Q504V9;Q9BYN7;Q9BYN7-2	.;ZN341_HUMAN;.	R	163	ENSP00000344308:Q163R;ENSP00000364346:Q163R	ENSP00000344308:Q163R	Q	+	2	0	ZNF341	31800538	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	6.566000	0.73978	2.228000	0.72767	0.528000	0.53228	CAG		0.557	ZNF341-201	KNOWN	basic	protein_coding	protein_coding			Missense_Mutation	3	66	0	0	0	1	0	3	66					G	32336877	A	G	32336877	5	3	323	1	0	0	0	0	0	0	1	0	17854	202	7	3	502	3	ZNF341	20	32336877	Splice_Site	SNP	A	TCGA-EM-A3FM-01A-11D-A21A-08		32336877	30688643	22	6837											
TUBGCP6	85378	broad.mit.edu	37	chr22	50659166	50659166	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttccaccgtggccgggTgggagccatgtctgacacag	16	11	1	1			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr22:50659166T>C	ENST00000248846.5	-	16	3726	c.3622A>G	c.(3622-3624)Acc>Gcc	p.T1208A	TUBGCP6_ENST00000439308.2_Missense_Mutation_p.T1208A|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1208	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CGTGGCCGGGTGGGAGCCATG	0.622																																						ENST00000439308.2																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(3622-3624)Acc>Gcc		tubulin, gamma complex associated protein 6							68	62	64					22																	50659166		2203	4300	6503	SO:0001583	missense	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50659166T>C	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.3622A>G	22.37:g.50659166T>C	ENSP00000248846:p.Thr1208Ala					TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Missense_Mutation_p.T1208A	p.T1208A	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	16	4114	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1208			9 X 27 AA tandem repeats.		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	c.3622A>G	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	N	0.262	-0.998869	0.02128	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.11063	3.2;2.81	4.53	-2.94	0.05581	.	3.633440	0.01029	N	0.004116	T	0.06917	0.0176	N	0.14661	0.345	0.09310	N	1	B;B;B	0.14012	0.0;0.009;0.0	B;B;B	0.17098	0.001;0.017;0.001	T	0.34054	-0.9844	10	0.23302	T	0.38	.	7.6347	0.28259	0.3123:0.4377:0.0:0.25	.	1200;1208;1208	B2RWN4;Q96RT7;Q96RT7-3	.;GCP6_HUMAN;.	A	1208	ENSP00000248846:T1208A;ENSP00000397387:T1208A	ENSP00000248846:T1208A	T	-	1	0	TUBGCP6	49001293	0.000000	0.05858	0.002000	0.10522	0.032000	0.12392	-1.348000	0.02629	-0.593000	0.05844	-0.432000	0.05891	ACC		0.622	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		5	135	0	0	0	1	0	5	135					C	50659166	T	C	50659166	3	2	323	1	0	0	0	0	1	0	0	0	16767	1696	59	3	1877	3	TUBGCP6	22	50659166	Missense_Mutation	SNP	T	TCGA-EM-A3FM-01A-11D-A21A-08		50659166	645400	23	6838											
FAM47C	442444	broad.mit.edu	37	chrX	37027156	37027156	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagtgtcccatctccgcccaCagcctcccaagactcaggtg	9	17	2	1	rs368685662		TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chrX:37027156C>G	ENST00000358047.3	+	1	725	c.673C>G	c.(673-675)Cag>Gag	p.Q225E		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	225										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCTCCGCCCACAGCCTCCCAA	0.647																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(673-675)Cag>Gag		family with sequence similarity 47, member C							41	41	41					X																	37027156		2202	4298	6500	SO:0001583	missense	442444							g.chrX:37027156C>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.673C>G	X.37:g.37027156C>G	ENSP00000367913:p.Gln225Glu						p.Q225E	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	725	+			225					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.673C>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.683783	0.00101	.	.	ENSG00000198173	ENST00000358047	T	0.12672	2.66	0.96	0.96	0.19631	.	.	.	.	.	T	0.01870	0.0059	N	0.00114	-2.085	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37337	-0.9710	9	0.02654	T	1	.	2.8694	0.05611	0.2407:0.2933:0.466:0.0	.	225	Q5HY64	FA47C_HUMAN	E	225	ENSP00000367913:Q225E	ENSP00000367913:Q225E	Q	+	1	0	FAM47C	36937077	0.000000	0.05858	0.016000	0.15963	0.016000	0.09150	-3.060000	0.00624	-1.049000	0.03234	-1.043000	0.02367	CAG		0.647	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		3	34	0	0	0	1	0	3	34					G	37027156	C	G	37027156	3	3	323	1	0	0	0	0	1	0	0	0	5571	479	17	4	675	4	FAM47C	23	37027156	Missense_Mutation	SNP	C	TCGA-EM-A3FM-01A-11D-A21A-08		37027156	118243404	24	6839											
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-													ctggttgggtttgcacttcaTcctcgaggcagcctcctcga					rs78182391		TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			5	11						5	11	---	---	---	---	-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	323	1	0	1	0	1	0	0	0	0	10727	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-EM-A3FM-01A-11D-A21A-08	14212140	51239296	104031264	25	6840											
OR5K1	26339	broad.mit.edu	37	chr3	98189173	98189173	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttttgtcagtttcattattCtatggatctcttttcttcat	4	7	6	0	rs200710580		TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr3:98189173C>A	ENST00000332650.5	+	1	850	c.753C>A	c.(751-753)ttC>ttA	p.F251L		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTCATTATTCTATGGATCTC	0.343																																						ENST00000332650.5																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(751-753)ttC>ttA		olfactory receptor, family 5, subfamily K, member 1							94	97	96					3																	98189173		2182	4293	6475	SO:0001583	missense	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98189173C>A	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"GPCR / Class A : Olfactory receptors"	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.753C>A	3.37:g.98189173C>A	ENSP00000373193:p.Phe251Leu						p.F251L	NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN			1	850	+			251					B9EGY5|Q6IF46	Missense_Mutation	SNP	ENST00000332650.5	37	c.753C>A	CCDS43115.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.296066	0.40594	.	.	ENSG00000232382	ENST00000332650	T	0.00285	8.3	4.56	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43110	D	0.000601	T	0.00300	0.0009	M	0.71296	2.17	0.23758	N	0.996922	B	0.21753	0.06	B	0.34385	0.181	T	0.28299	-1.0048	10	0.54805	T	0.06	-10.4101	7.1147	0.25411	0.0:0.799:0.0:0.201	.	251	Q8NHB7	OR5K1_HUMAN	L	251	ENSP00000373193:F251L	ENSP00000373193:F251L	F	+	3	2	OR5K1	99671863	0.000000	0.05858	1.000000	0.80357	0.859000	0.49053	0.059000	0.14322	1.123000	0.41961	0.563000	0.77884	TTC		0.343	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1			13	36	1	0	8.60227e-14	0.500413	1.04456e-13	13	36					A	98189173	C	A	98189173	3	1	324	1	0	0	0	0	1	0	0	0	11166	912	32	4	755	4	OR5K1	3	98189173	Missense_Mutation	SNP	C	TCGA-EM-A3FN-01A-11D-A21A-08		98189173	99833257	1	6841											
CPOX	1371	broad.mit.edu	37	chr3	98304370	98304370	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cacaaggggaatgtaagaagGaactacagccctggcacagc	12	10	0	1			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr3:98304370G>T	ENST00000264193.2	-	5	1305	c.1087C>A	c.(1087-1089)Cct>Act	p.P363T		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	363					heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to arsenic-containing substance (GO:0046685)|response to insecticide (GO:0017085)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to methylmercury (GO:0051597)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	coproporphyrinogen oxidase activity (GO:0004109)|protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						ATGTAAGAAGGAACTACAGCC	0.507																																					Esophageal Squamous(75;7 1223 22300 43648 48951)	ENST00000264193.2																			0				endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						c.(1087-1089)Cct>Act		coproporphyrinogen oxidase							165	172	169					3																	98304370		2203	4300	6503	SO:0001583	missense	1371					mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity	g.chr3:98304370G>T	BC017210	CCDS2932.1	3q12	2012-10-02		2004-01-30		ENSG00000080819	1.3.3.3		2321	protein-coding gene	gene with protein product	"coproporphyria"	612732	"coproporphyrinogen oxidase (coproporphyria, harderoporphyria)"	CPO		7757079, 8407975	Standard	NM_000097		Approved	CPX, HCP	uc003dsx.3	P36551		ENST00000264193.2:c.1087C>A	3.37:g.98304370G>T	ENSP00000264193:p.Pro363Thr						p.P363T	NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN			5	1305	-			363					A8K275|B4DSD5|Q14060|Q53F08|Q8IZ45|Q96AF3	Missense_Mutation	SNP	ENST00000264193.2	37	c.1087C>A	CCDS2932.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.730630	0.89390	.	.	ENSG00000080819	ENST00000264193	D	0.93189	-3.18	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.97244	0.9099	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97289	0.9923	9	.	.	.	-15.8654	17.776	0.88508	0.0:0.0:1.0:0.0	.	363	P36551	HEM6_HUMAN	T	363	ENSP00000264193:P363T	.	P	-	1	0	CPOX	99787060	1.000000	0.71417	0.960000	0.40013	0.953000	0.61014	9.476000	0.97823	2.806000	0.96561	0.655000	0.94253	CCT		0.507	CPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358900.1	NM_000097		13	208	1	0	1.05317e-09	0.457914	1.24911e-09	13	208					T	98304370	G	T	98304370	3	4	324	1	0	0	0	0	1	0	0	0	3821	1174	41	4	289	4	CPOX	3	98304370	Missense_Mutation	SNP	G	TCGA-EM-A3FN-01A-11D-A21A-08	115197	98304370	99718060	2	6842											
RASGEF1B	153020	broad.mit.edu	37	chr4	82366917	82366917	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catacagatttctgtagcaaCcaagtagctgaggcgattaa	9	8	1	2			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr4:82366917C>A	ENST00000264400.2	-	7	956	c.805G>T	c.(805-807)Gtt>Ttt	p.V269F	RASGEF1B_ENST00000335927.7_Missense_Mutation_p.V227F|RASGEF1B_ENST00000509081.1_Missense_Mutation_p.V268F	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	269	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						TCTGTAGCAACCAAGTAGCTG	0.363																																						ENST00000509081.1																			0				endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						c.(802-804)Gtt>Ttt		RasGEF domain family, member 1B							90	88	88					4																	82366917		2203	4300	6503	SO:0001583	missense	153020				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr4:82366917C>A	AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.805G>T	4.37:g.82366917C>A	ENSP00000264400:p.Val269Phe					RASGEF1B_ENST00000335927.7_Missense_Mutation_p.V227F|RASGEF1B_ENST00000264400.2_Missense_Mutation_p.V269F	p.V268F			Q0VAM2	RGF1B_HUMAN			7	1023	-			269			Ras-GEF.		Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Missense_Mutation	SNP	ENST00000264400.2	37	c.802G>T	CCDS34022.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.919509	0.92249	.	.	ENSG00000138670	ENST00000509081;ENST00000264400;ENST00000335927;ENST00000504863	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.3	5.3	0.74995	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.75369	0.3840	H	0.95294	3.65	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.991;0.985;0.995	T	0.80808	-0.1217	10	0.45353	T	0.12	.	18.7367	0.91757	0.0:1.0:0.0:0.0	.	227;268;269	Q0VAM2-2;Q0VAM2-3;Q0VAM2	.;.;RGF1B_HUMAN	F	268;269;227;114	ENSP00000425393:V268F;ENSP00000264400:V269F;ENSP00000338437:V227F;ENSP00000426929:V114F	ENSP00000264400:V269F	V	-	1	0	RASGEF1B	82585941	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.320000	0.79064	2.745000	0.94114	0.655000	0.94253	GTT		0.363	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1	NM_152545		4	44	1	0	3.59834e-05	0.217242	4.07811e-05	4	44					A	82366917	C	A	82366917	3	1	324	1	0	0	0	0	1	0	0	0	13070	507	18	4	648	4	RASGEF1B	4	82366917	Missense_Mutation	SNP	C	TCGA-EM-A3FN-01A-11D-A21A-08		82366917	108787359	3	6843											
PCDH10	57575	broad.mit.edu	37	chr4	134071649	134071649	+	Frame_Shift_Del	DEL	C	C	-													gtgctggacattaatgacaaCcccccctctttcccggagcc							TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr4:134071649delC	ENST00000264360.5	+	1	1180	c.354delC	c.(352-354)aacfs	p.N118fs	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	118	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)	p.S121fs*13(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TTAATGACAACCCCCCCTCTT	0.607																																						ENST00000264360.4																			1	Insertion - Frameshift(1)	p.S121fs*13(1)	large_intestine(1)	NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(352-354)aafs		protocadherin 10							57	62	60					4																	134071649		2203	4300	6503	SO:0001589	frameshift_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134071649delC	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.354delC	4.37:g.134071649delC	ENSP00000264360:p.Asn118fs						p.N118fs	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1180	+			118			Cadherin 1.		Q4W5F6|Q96SF0	Frame_Shift_Del	DEL	ENST00000264360.5	37	c.354delC	CCDS34063.1																																																																																				0.607	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		7	307						7	307	---	---	---	---	-	134071649	C	-	134071649	7	5	324	1	0	1	0	1	0	0	0	0	11507	506	18	0	356	0	PCDH10	4	134071649	Frame_Shift_Del	DEL	C	TCGA-EM-A3FN-01A-11D-A21A-08	51704732	134071649	57082627	4	6844											
SYTL3	94120	broad.mit.edu	37	chr6	159184419	159184419	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttgcccccagtggaaacactCatttgtcttcagtggcgtaa	9	11	3	0			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr6:159184419C>G	ENST00000297239.9	+	16	1795	c.1601C>G	c.(1600-1602)tCa>tGa	p.S534*	MIR3918_ENST00000581555.1_RNA|SYTL3_ENST00000367081.3_Nonsense_Mutation_p.S260*|SYTL3_ENST00000360448.3_Nonsense_Mutation_p.S466*			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	534	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		TGGAAACACTCATTTGTCTTC	0.527																																						ENST00000297239.9																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20						c.(1600-1602)tCa>tGa		synaptotagmin-like 3							113	104	107					6																	159184419		2203	4300	6503	SO:0001587	stop_gained	94120				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding	g.chr6:159184419C>G	AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.1601C>G	6.37:g.159184419C>G	ENSP00000297239:p.Ser534*					SYTL3_ENST00000360448.3_Nonsense_Mutation_p.S466*|SYTL3_ENST00000367081.3_Nonsense_Mutation_p.S260*	p.S534*			Q4VX76	SYTL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)	16	1795	+		Breast(66;0.000776)|Ovarian(120;0.0303)	534			C2 2.		Q496J4|Q496J6|Q5U3B9	Nonsense_Mutation	SNP	ENST00000297239.9	37	c.1601C>G	CCDS56458.1	.	.	.	.	.	.	.	.	.	.	C	38	7.158975	0.98103	.	.	ENSG00000164674	ENST00000360448;ENST00000297239;ENST00000367081	.	.	.	5.29	4.36	0.52297	.	0.000000	0.45361	D	0.000361	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	5.3329	0.15942	0.0:0.6637:0.2076:0.1287	.	.	.	.	X	466;534;260	.	ENSP00000297239:S534X	S	+	2	0	SYTL3	159104407	1.000000	0.71417	0.996000	0.52242	0.702000	0.40608	1.971000	0.40530	2.625000	0.88918	0.557000	0.71058	TCA		0.527	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1			35	65	0	0	0	0.834066	0	35	65					G	159184419	C	G	159184419	4	3	324	1	0	0	0	0	0	1	0	0	15481	838	29	4	1443	4	SYTL3	6	159184419	Nonsense_Mutation	SNP	C	TCGA-EM-A3FN-01A-11D-A21A-08		159184419	11930648	5	6845											
ACTB	60	broad.mit.edu	37	chr7	5568116	5568116	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgctcggccgtggtggtgaAgctgtagccgcgctcggtga	17	12	0	2			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr7:5568116A>C	ENST00000331789.5	-	4	789	c.598T>G	c.(598-600)Ttc>Gtc	p.F200V	AC006483.1_ENST00000579427.1_RNA|ACTB_ENST00000464611.1_5'Flank	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	200					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GTGGTGGTGAAGCTGTAGCCG	0.622																																						ENST00000331789.5																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8						c.(598-600)Ttc>Gtc		actin, beta							59	59	59					7																	5568116		2203	4300	6503	SO:0001583	missense	60				'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton	g.chr7:5568116A>C	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.598T>G	7.37:g.5568116A>C	ENSP00000349960:p.Phe200Val						p.F200V	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)	4	789	-		Ovarian(82;0.0606)	200					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000331789.5	37	c.598T>G	CCDS5341.1	.	.	.	.	.	.	.	.	.	.	A	17.96	3.516425	0.64634	.	.	ENSG00000075624	ENST00000331789;ENST00000445914;ENST00000400179;ENST00000320713	D	0.94758	-3.51	5.55	5.55	0.83447	.	0.092093	0.46758	D	0.000278	D	0.98115	0.9378	M	0.93241	3.395	0.52099	D	0.999949	P	0.36249	0.545	D	0.66602	0.945	D	0.98784	1.0733	10	0.87932	D	0	.	13.6936	0.62564	1.0:0.0:0.0:0.0	.	200	P60709	ACTB_HUMAN	V	200;176;172;119	ENSP00000349960:F200V	ENSP00000440549:F119V	F	-	1	0	ACTB	5534642	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	8.991000	0.93514	2.114000	0.64651	0.529000	0.55759	TTC		0.622	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101		43	55	0	0	0	0.870114	0	43	55					C	5568116	A	C	5568116	3	2	324	1	0	0	0	0	1	0	0	0	193	72	3	5	541	5	ACTB	7	5568116	Missense_Mutation	SNP	A	TCGA-EM-A3FN-01A-11D-A21A-08		5568116	153570547	6	6846											
HDAC9	9734	broad.mit.edu	37	chr7	18688246	18688246	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcagctggtcattcaacaGcaacaccagcaattcttgga	8	12	4	0			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr7:18688246G>A	ENST00000432645.2	+	10	1398	c.1398G>A	c.(1396-1398)caG>caA	p.Q466Q	HDAC9_ENST00000417496.2_Silent_p.Q464Q|HDAC9_ENST00000406451.4_Silent_p.Q466Q|HDAC9_ENST00000405010.3_Silent_p.Q466Q|HDAC9_ENST00000406072.1_Silent_p.Q453Q|HDAC9_ENST00000441542.2_Silent_p.Q469Q|HDAC9_ENST00000428307.2_Silent_p.Q422Q|HDAC9_ENST00000401921.1_Silent_p.Q425Q|HDAC9_ENST00000524023.1_Silent_p.Q389Q|HDAC9_ENST00000456174.2_Silent_p.Q438Q	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	466					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|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)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TCATTCAACAGCAACACCAGC	0.507																																						ENST00000406451.3																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82						c.(1396-1398)caG>caA		histone deacetylase 9	Valproic Acid(DB00313)						55	57	56					7																	18688246		2058	4192	6250	SO:0001819	synonymous_variant	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	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)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18688246G>A	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1398G>A	7.37:g.18688246G>A						HDAC9_ENST00000428307.2_Silent_p.Q422Q|HDAC9_ENST00000441542.2_Silent_p.Q469Q|HDAC9_ENST00000406072.1_Silent_p.Q453Q|HDAC9_ENST00000432645.2_Silent_p.Q466Q|HDAC9_ENST00000401921.1_Silent_p.Q425Q|HDAC9_ENST00000456174.2_Silent_p.Q438Q|HDAC9_ENST00000417496.2_Silent_p.Q464Q|HDAC9_ENST00000405010.3_Silent_p.Q466Q|HDAC9_ENST00000524023.1_Silent_p.Q389Q	p.Q466Q	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN			11	1548	+	all_lung(11;0.187)		466					A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Silent	SNP	ENST00000432645.2	37	c.1398G>A	CCDS47555.1																																																																																				0.507	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			3	80	0	0	0	0.184627	0	3	80					A	18688246	G	A	18688246	2	1	324	1	0	0	0	0	0	0	0	1	7014	962	34	2		2	HDAC9	7	18688246	Silent	SNP	G	TCGA-EM-A3FN-01A-11D-A21A-08	13120130	18688246	140450417	7	6847											
SLC25A13	10165	broad.mit.edu	37	chr7	95822462	95822462	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctagcattgtcccgttgcaCaaaggcttgctttgcgtgct	10	12	0	0			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr7:95822462C>T	ENST00000265631.5	-	6	638	c.502G>A	c.(502-504)Gtg>Atg	p.V168M	SLC25A13_ENST00000416240.2_Missense_Mutation_p.V168M|SLC25A13_ENST00000542654.1_Missense_Mutation_p.V60M			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	168	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TCCCGTTGCACAAAGGCTTGC	0.413																																						ENST00000416240.2																			0				breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42						c.(502-504)Gtg>Atg		solute carrier family 25 (aspartate/glutamate carrier), member 13	L-Aspartic Acid(DB00128)						148	131	137					7																	95822462		2203	4300	6503	SO:0001583	missense	10165				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	g.chr7:95822462C>T	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"Solute carriers", "EF-hand domain containing"	10983	protein-coding gene	gene with protein product	"mitochondrial aspartate glutamate carrier 2"	603859	"solute carrier family 25, member 13 (citrin)"	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.502G>A	7.37:g.95822462C>T	ENSP00000265631:p.Val168Met					SLC25A13_ENST00000265631.5_Missense_Mutation_p.V168M|SLC25A13_ENST00000542654.1_Missense_Mutation_p.V60M	p.V168M	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	STAD - Stomach adenocarcinoma(171;0.194)		6	692	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		168			EF-hand 4.		O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	37	c.502G>A	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.362202	0.41902	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.79454	-1.27;-1.27;-1.27	5.09	4.21	0.49690	EF-hand-like domain (1);	0.147388	0.44902	N	0.000408	T	0.70587	0.3241	L	0.44542	1.39	0.37895	D	0.93083	B;B;B	0.22211	0.027;0.066;0.066	B;B;B	0.23018	0.043;0.028;0.028	T	0.70037	-0.4982	10	0.36615	T	0.2	-9.3365	13.9251	0.63958	0.0:0.9266:0.0:0.0733	.	60;168;168	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	M	168;168;60	ENSP00000265631:V168M;ENSP00000400101:V168M;ENSP00000440484:V60M	ENSP00000265631:V168M	V	-	1	0	SLC25A13	95660398	0.994000	0.37717	1.000000	0.80357	0.905000	0.53344	1.092000	0.30927	1.513000	0.48852	0.563000	0.77884	GTG		0.413	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		37	55	0	0	0	0.870114	0	37	55					T	95822462	C	T	95822462	3	4	324	1	0	0	0	0	1	0	0	0	14475	478	17	2	1580	2	SLC25A13	7	95822462	Missense_Mutation	SNP	C	TCGA-EM-A3FN-01A-11D-A21A-08	77134216	95822462	63316201	8	6848											
DLX6	1750	broad.mit.edu	37	chr7	96635420	96635421	+	In_Frame_Ins	INS	-	-	GCC													cagcagcagcaacagcaacaINSgccgccgccgccgccgccgc					rs527616759|rs570498188|rs559903070|rs374304439	byFrequency	TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr7:96635420_96635421insGCC	ENST00000518156.2	+	1	561_562	c.131_132insGCC	c.(130-135)cagccg>caGCCgccg	p.53_54insP	DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000431497.2_RNA|DLX6_ENST00000555308.1_5'Flank|DLX6-AS1_ENST00000430404.2_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS2_ENST00000606174.1_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	0					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					caacagcaacagccgccgccgc	0.698														532	0.10623	0.0076	0.0893	5008	,	,		7133	0.0685		0.1948	False		,,,				2504	0.1994					ENST00000518156.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(130-132)ccc>cGCCcc		distal-less homeobox 6																																				SO:0001652	inframe_insertion	1750				nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:96635420_96635421insGCC		CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"Homeoboxes / ANTP class : NKL subclass"	2919	protein-coding gene	gene with protein product		600030	"distal-less homeo box 6"			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.156_158dupGCC	7.37:g.96635427_96635429dupGCC	ENSP00000428480:p.Pro54_Pro55dup					DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000437541.1_RNA	p.43_44insR			P56179	DLX6_HUMAN			1	561_562	+	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		0					A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	In_Frame_Ins	INS	ENST00000518156.2	37	c.131_132insGCC	CCDS47647.2																																																																																				0.698	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	NM_005222		5	7						5	7	---	---	---	---	GCC	96635421	-	GCC	96635420	7	5	324	1	0	1	1	0	0	0	0	0	4575	188	7	0	133	0	DLX6	7	96635420	In_Frame_Ins	INS	-	TCGA-EM-A3FN-01A-11D-A21A-08	812958	96635420	62503243	9	6849											
COL14A1	7373	broad.mit.edu	37	chr8	121238917	121238917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgaggtgacgacagacaGttttagggtgacctggcatc	14	7	0	5			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr8:121238917G>A	ENST00000297848.3	+	16	2186	c.1916G>A	c.(1915-1917)aGt>aAt	p.S639N	COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.S639N|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.S544N	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ACGACAGACAGTTTTAGGGTG	0.473																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(1915-1917)aGt>aAt		collagen, type XIV, alpha 1							96	87	90					8																	121238917		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121238917G>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1916G>A	8.37:g.121238917G>A	ENSP00000297848:p.Ser639Asn					COL14A1_ENST00000247781.3_Missense_Mutation_p.S544N|COL14A1_ENST00000309791.4_Missense_Mutation_p.S639N|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000432943.2_3'UTR	p.S639N	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		16	2186	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		639			Fibronectin type-III 5.			Missense_Mutation	SNP	ENST00000297848.3	37	c.1916G>A	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.876382	0.51801	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	5.63	5.63	0.86233	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.179154	0.64402	D	0.000015	T	0.64627	0.2615	M	0.81497	2.545	0.80722	D	1	B;B	0.15473	0.003;0.013	B;B	0.15870	0.014;0.01	T	0.64702	-0.6345	10	0.66056	D	0.02	.	12.5536	0.56240	0.0803:0.0:0.9197:0.0	.	639;639	Q05707-2;Q05707	.;COEA1_HUMAN	N	639;639;544;452	ENSP00000311809:S639N;ENSP00000297848:S639N;ENSP00000247781:S544N;ENSP00000409461:S452N	ENSP00000247781:S544N	S	+	2	0	COL14A1	121308098	1.000000	0.71417	0.181000	0.23098	0.985000	0.73830	5.769000	0.68865	2.652000	0.90054	0.557000	0.71058	AGT		0.473	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		3	57	0	0	0	0.115264	0	3	57					A	121238917	G	A	121238917	3	1	324	1	0	0	0	0	1	0	0	0	3671	1029	36	2	1974	2	COL14A1	8	121238917	Missense_Mutation	SNP	G	TCGA-EM-A3FN-01A-11D-A21A-08		121238917	25125105	10	6850											
AQP7	364	broad.mit.edu	37	chr9	33385156	33385156	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttatcccgtggtcttcataCgccacagaatcctccaattt	6	13	2	1	rs144994089	byFrequency	TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr9:33385156C>T	ENST00000377425.4	-	7	859	c.646G>A	c.(646-648)Gta>Ata	p.V216I	AQP7_ENST00000537089.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		GGTCTTCATACGCCACAGAAT	0.552																																						ENST00000377425.4																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(646-648)Gta>Ata		aquaporin 7		T		2,4404	4.2+/-10.8	0,2,2201	123	123	123		876	-4.0	0.0	9	dbSNP_134	123	9,8591	6.4+/-24.3	0,9,4291	no	coding-synonymous	AQP7	NM_001170.1		0,11,6492	TT,TC,CC		0.1047,0.0454,0.0846		292/343	33385156	11,12995	2203	4300	6503	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385156C>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"Ion channels / Aquaporins"	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000377425.4:c.646G>A	9.37:g.33385156C>T	ENSP00000396111:p.Val216Ile					AQP7_ENST00000537089.1_3'UTR	p.V216I			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	7	859	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000377425.4	37	c.646G>A		.	.	.	.	.	.	.	.	.	.	c	10.57	1.386824	0.25031	4.54E-4	0.001047	ENSG00000165269	ENST00000447660;ENST00000377425	D;D	0.90261	-2.64;-2.1	3.12	-4.02	0.04034	.	.	.	.	.	T	0.82139	0.4972	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.67891	-0.5553	8	0.59425	D	0.04	1.0545	4.8703	0.13629	0.0:0.2567:0.1883:0.555	.	216	Q6P5T0	.	I	141;216	ENSP00000412868:V141I;ENSP00000396111:V216I	ENSP00000396111:V216I	V	-	1	0	AQP7	33375156	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.324000	0.01116	-0.649000	0.05430	-0.413000	0.06143	GTA		0.552	AQP7-201	KNOWN	basic	protein_coding	protein_coding		NM_001170		4	116	0	0	0	0.248553	0	4	116					T	33385156	C	T	33385156	3	4	324	1	0	0	0	0	1	0	0	0	831	523	19	1	156	1	AQP7	9	33385156	Missense_Mutation	SNP	C	TCGA-EM-A3FN-01A-11D-A21A-08		33385156	107828275	11	6851											
CEL	1056	broad.mit.edu	37	chr9	135946855	135946855	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgcccacgggtgactccgggGccccccccgtgccgcccacg	13	22	0	1	rs587780309		TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr9:135946855G>C	ENST00000372080.4	+	11	1991	c.1975G>C	c.(1975-1977)Gcc>Ccc	p.A659P	CEL_ENST00000351304.7_Missense_Mutation_p.A590P	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	656	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TGACTCCGGGGCCCCCCCCGT	0.856																																						ENST00000372080.4																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20						c.(1975-1977)Gcc>Ccc		carboxyl ester lipase							1	1	1					9																	135946855		28	111	139	SO:0001583	missense	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135946855G>C	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"bile salt-stimulated lipase"	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.1975G>C	9.37:g.135946855G>C	ENSP00000361151:p.Ala659Pro					CEL_ENST00000351304.7_Missense_Mutation_p.A590P	p.A659P	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	11	1991	+			656			17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).		Q16398|Q5T7U7|Q9UCH1|Q9UP41	Missense_Mutation	SNP	ENST00000372080.4	37	c.1975G>C	CCDS43896.1	.	.	.	.	.	.	.	.	.	.	g	13.21	2.170239	0.38315	.	.	ENSG00000170835	ENST00000372080;ENST00000351304;ENST00000303626	T;T	0.72167	-0.47;-0.63	1.65	0.649	0.17806	.	.	.	.	.	T	0.71005	0.3289	L	0.28115	0.83	0.09310	N	1	D	0.71674	0.998	D	0.73708	0.981	T	0.59429	-0.7456	9	0.66056	D	0.02	.	7.6145	0.28150	0.0:0.2685:0.7315:0.0	.	656	P19835	CEL_HUMAN	P	659;590;625	ENSP00000361151:A659P;ENSP00000342217:A590P	ENSP00000304021:A625P	A	+	1	0	CEL	134936676	0.003000	0.15002	0.001000	0.08648	0.000000	0.00434	0.853000	0.27777	0.215000	0.20761	-0.687000	0.03738	GCC		0.856	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			2	1	0	0	0	0.115264	0	2	1					C	135946855	G	C	135946855	3	2	324	1	0	0	0	0	1	0	0	0	3209	1203	42	4	2017	4	CEL	9	135946855	Missense_Mutation	SNP	G	TCGA-EM-A3FN-01A-11D-A21A-08	102561699	135946855	5266576	12	6852											
SP1	6667	broad.mit.edu	37	chr12	53804795	53804795	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatatcaagacccaccagaAtaagaagggaggcccaggtg	11	10	1	3			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr12:53804795A>G	ENST00000327443.4	+	6	2227	c.2129A>G	c.(2128-2130)aAt>aGt	p.N710S	SP1_ENST00000426431.2_Missense_Mutation_p.N703S	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	710	Domain D.|VZV IE62-binding.				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		ACCCACCAGAATAAGAAGGGA	0.532																																						ENST00000426431.2																			0				breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5						c.(2107-2109)aAt>aGt		Sp1 transcription factor							140	145	143					12																	53804795		2203	4300	6503	SO:0001583	missense	0				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:53804795A>G	J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11205	protein-coding gene	gene with protein product	"specificity protein 1"	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.2129A>G	12.37:g.53804795A>G	ENSP00000329357:p.Asn710Ser					SP1_ENST00000327443.4_Missense_Mutation_p.N710S	p.N703S	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.00527)	6	2168	+			710			VZV IE62-binding.		E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Missense_Mutation	SNP	ENST00000327443.4	37	c.2108A>G	CCDS8857.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.967944	0.53507	.	.	ENSG00000185591	ENST00000327443;ENST00000426431	T;T	0.08984	3.05;3.03	4.92	4.92	0.64577	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000011	T	0.07369	0.0186	N	0.22421	0.69	0.58432	D	0.999996	P	0.42692	0.787	B	0.39805	0.31	T	0.32534	-0.9903	10	0.46703	T	0.11	.	13.9824	0.64313	1.0:0.0:0.0:0.0	.	710	P08047	SP1_HUMAN	S	710;703	ENSP00000329357:N710S;ENSP00000404263:N703S	ENSP00000329357:N710S	N	+	2	0	SP1	52091062	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.861000	0.69553	2.204000	0.70986	0.383000	0.25322	AAT		0.532	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407044.1			7	65	0	0	0	0.248553	0	7	65					G	53804795	A	G	53804795	3	3	324	1	0	0	0	0	1	0	0	0	14959	101	4	3	2151	3	SP1	12	53804795	Missense_Mutation	SNP	A	TCGA-EM-A3FN-01A-11D-A21A-08		53804795	80047100	13	6853											
OR5AU1	390445	broad.mit.edu	37	chr14	21623307	21623307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatggcagtgaggtgggatGcacaggtggaaaatgcctta	16	5	0	2			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr14:21623307G>A	ENST00000304418.3	-	1	915	c.878C>T	c.(877-879)gCa>gTa	p.A293V		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		GAGGTGGGATGCACAGGTGGA	0.522																																						ENST00000304418.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21						c.(877-879)gCa>gTa		olfactory receptor, family 5, subfamily AU, member 1							168	137	147					14																	21623307		2203	4300	6503	SO:0001583	missense	390445				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21623307G>A	AL157687	CCDS32042.1	14q11.2	2013-09-23			ENSG00000169327	ENSG00000169327		"GPCR / Class A : Olfactory receptors"	15362	protein-coding gene	gene with protein product							Standard	NM_001004731		Approved		uc010tlp.2	Q8NGC0	OTTHUMG00000170753	ENST00000304418.3:c.878C>T	14.37:g.21623307G>A	ENSP00000302057:p.Ala293Val						p.A293V	NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)	1	915	-	all_cancers(95;0.00238)		293					B2RP78|Q6IEU2|Q96R10	Missense_Mutation	SNP	ENST00000304418.3	37	c.878C>T	CCDS32042.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733920	0.69189	.	.	ENSG00000169327	ENST00000304418	T	0.38560	1.13	4.48	4.48	0.54585	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.59183	0.2175	M	0.61703	1.905	0.31404	N	0.676262	D	0.56746	0.977	P	0.62560	0.904	T	0.64516	-0.6389	9	0.66056	D	0.02	.	14.7151	0.69262	0.0:0.0:1.0:0.0	.	293	Q8NGC0	O5AU1_HUMAN	V	293	ENSP00000302057:A293V	ENSP00000302057:A293V	A	-	2	0	OR5AU1	20693147	0.120000	0.22244	0.991000	0.47740	0.927000	0.56198	1.144000	0.31565	2.323000	0.78572	0.491000	0.48974	GCA		0.522	OR5AU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410213.1			3	53	0	0	0	0.150653	0	3	53					A	21623307	G	A	21623307	3	1	324	1	0	0	0	0	1	0	0	0	11147	1319	46	2	213	2	OR5AU1	14	21623307	Missense_Mutation	SNP	G	TCGA-EM-A3FN-01A-11D-A21A-08		21623307	85726233	14	6854											
CMA1	1215	broad.mit.edu	37	chr14	24976707	24976707	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcattctgtgcccccgatgaTctcccctggaacagagcacc	9	16	2	2			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr14:24976707T>C	ENST00000250378.3	-	2	93	c.64A>G	c.(64-66)Atc>Gtc	p.I22V	CMA1_ENST00000206446.4_Intron|RP11-80A15.1_ENST00000555109.1_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	22	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|cellular response to glucose stimulus (GO:0071333)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|interleukin-1 beta biosynthetic process (GO:0050720)|midbrain development (GO:0030901)|peptide metabolic process (GO:0006518)|positive regulation of angiogenesis (GO:0045766)|regulation of inflammatory response (GO:0050727)	extracellular region (GO:0005576)|intracellular (GO:0005622)	peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		CCCCCGATGATCTCCCCTGGA	0.507																																						ENST00000250378.3																			0				kidney(1)|lung(8)|pancreas(1)|prostate(1)	11						c.(64-66)Atc>Gtc		chymase 1, mast cell							105	98	100					14																	24976707		2203	4300	6503	SO:0001583	missense	1215				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr14:24976707T>C		CCDS9630.1	14q12	2012-08-30			ENSG00000092009	ENSG00000092009	3.4.21.39		2097	protein-coding gene	gene with protein product		118938				8468056	Standard	NM_001836		Approved		uc001wpp.1	P23946	OTTHUMG00000140181	ENST00000250378.3:c.64A>G	14.37:g.24976707T>C	ENSP00000250378:p.Ile22Val					RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Intron	p.I22V	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0271)	2	93	-			22			Peptidase S1.		B5BUM8|Q16018|Q3SY36|Q3SY37|Q9UDH5	Missense_Mutation	SNP	ENST00000250378.3	37	c.64A>G	CCDS9630.1	.	.	.	.	.	.	.	.	.	.	T	18.06	3.538545	0.65085	.	.	ENSG00000092009	ENST00000250378	T	0.64618	-0.11	5.01	3.87	0.44632	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.120245	0.37483	N	0.002067	T	0.52629	0.1746	L	0.39147	1.195	0.80722	D	1	B	0.25048	0.117	B	0.31812	0.136	T	0.53344	-0.8452	10	0.72032	D	0.01	.	7.3823	0.26862	0.0:0.0973:0.0:0.9027	.	22	P23946	CMA1_HUMAN	V	22	ENSP00000250378:I22V	ENSP00000250378:I22V	I	-	1	0	CMA1	24046547	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	2.602000	0.46257	1.051000	0.40369	0.533000	0.62120	ATC		0.507	CMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276535.2			5	203	0	0	0	0.217242	0	5	203					C	24976707	T	C	24976707	3	2	324	1	0	0	0	0	1	0	0	0	3574	1435	50	3	695	3	CMA1	14	24976707	Missense_Mutation	SNP	T	TCGA-EM-A3FN-01A-11D-A21A-08	3353400	24976707	82372833	15	6855											
ADCK1	57143	broad.mit.edu	37	chr14	78365449	78365449	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgttggatttcaggtgctcGttctggctgtgaagcagctg	14	7	2	1	rs373401592		TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr14:78365449G>C	ENST00000238561.5	+	6	688	c.589G>C	c.(589-591)Gtt>Ctt	p.V197L	ADCK1_ENST00000341211.5_Missense_Mutation_p.V129L	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	204	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		TCAGGTGCTCGTTCTGGCTGT	0.507																																						ENST00000238561.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25						c.(589-591)Gtt>Ctt		aarF domain containing kinase 1							199	173	182					14																	78365449		2203	4300	6503	SO:0001583	missense	57143					extracellular region	ATP binding|protein serine/threonine kinase activity	g.chr14:78365449G>C	AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.589G>C	14.37:g.78365449G>C	ENSP00000238561:p.Val197Leu					ADCK1_ENST00000341211.5_Missense_Mutation_p.V129L	p.V197L	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)	6	688	+			204			Protein kinase.		B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP	ENST00000238561.5	37	c.589G>C	CCDS9869.1	.	.	.	.	.	.	.	.	.	.	G	9.947	1.219074	0.22373	.	.	ENSG00000063761	ENST00000238561;ENST00000557501;ENST00000341211	T;T;T	0.52754	0.65;0.65;0.65	5.53	3.59	0.41128	.	0.197485	0.41500	D	0.000864	T	0.28797	0.0714	N	0.16016	0.355	0.27913	N	0.938543	B;B	0.21381	0.055;0.045	B;B	0.31442	0.13;0.128	T	0.26467	-1.0102	10	0.12430	T	0.62	-6.4366	8.7298	0.34491	0.1542:0.2186:0.6272:0.0	.	129;197	Q9UIE6;Q86TW2-2	.;.	L	197;197;129	ENSP00000238561:V197L;ENSP00000451549:V197L;ENSP00000339663:V129L	ENSP00000238561:V197L	V	+	1	0	ADCK1	77435202	0.585000	0.26774	0.907000	0.35723	0.702000	0.40608	0.919000	0.28692	0.711000	0.32018	-1.094000	0.02160	GTT		0.507	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	NM_020421		48	117	0	0	0	0.870114	0	48	117					C	78365449	G	C	78365449	3	2	324	1	0	0	0	0	1	0	0	0	288	1145	40	4	607	4	ADCK1	14	78365449	Missense_Mutation	SNP	G	TCGA-EM-A3FN-01A-11D-A21A-08	53388742	78365449	28984091	16	6856											
TP53BP1	7158	broad.mit.edu	37	chr15	43712831	43712831	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccacatctgttcgtctggtGgagtctggcactcggggcac	13	13	3	0			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr15:43712831G>T	ENST00000263801.3	-	21	4590	c.4338C>A	c.(4336-4338)tcC>tcA	p.S1446S	TP53BP1_ENST00000382044.4_Silent_p.S1451S|TP53BP1_ENST00000450115.2_Silent_p.S1451S|TP53BP1_ENST00000382039.3_Silent_p.S1401S	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1446					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|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)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TTCGTCTGGTGGAGTCTGGCA	0.542								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(4336-4338)tcC>tcA	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							64	62	62					15																	43712831		2201	4298	6499	SO:0001819	synonymous_variant	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43712831G>T	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.4338C>A	15.37:g.43712831G>T						TP53BP1_ENST00000450115.2_Silent_p.S1451S|TP53BP1_ENST00000382044.4_Silent_p.S1451S|TP53BP1_ENST00000382039.3_Silent_p.S1401S	p.S1446S	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	21	4590	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	1446					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Silent	SNP	ENST00000263801.3	37	c.4338C>A	CCDS10096.1																																																																																				0.542	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			41	55	1	0	5.34276e-22	0.870114	6.64587e-22	41	55					T	43712831	G	T	43712831	2	4	324	1	0	0	0	0	0	0	0	1	16380	1335	47	4		4	TP53BP1	15	43712831	Silent	SNP	G	TCGA-EM-A3FN-01A-11D-A21A-08		43712831	58818561	17	6857											
PRPF8	10594	broad.mit.edu	37	chr17	1579616	1579616	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctttccaaccaatgcactgTggtggtatatactgccactg	9	11	0	0			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr17:1579616T>C	ENST00000572621.1	-	16	2702	c.2437A>G	c.(2437-2439)Aca>Gca	p.T813A	PRPF8_ENST00000304992.6_Missense_Mutation_p.T813A			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	813	Reverse transcriptase homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CAATGCACTGTGGTGGTATAT	0.537																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(2437-2439)Aca>Gca		pre-mRNA processing factor 8							113	106	108					17																	1579616		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1579616T>C	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.2437A>G	17.37:g.1579616T>C	ENSP00000460348:p.Thr813Ala					PRPF8_ENST00000304992.6_Missense_Mutation_p.T813A	p.T813A			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	16	2702	-			813					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.2437A>G	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	T	19.78	3.890785	0.72524	.	.	ENSG00000174231	ENST00000304992	T	0.80214	-1.35	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.74642	0.3743	L	0.41710	1.295	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.68131	-0.5490	10	0.26408	T	0.33	-0.0232	16.8061	0.85666	0.0:0.0:0.0:1.0	.	813	Q6P2Q9	PRP8_HUMAN	A	813	ENSP00000304350:T813A	ENSP00000304350:T813A	T	-	1	0	PRPF8	1526366	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	8.013000	0.88655	2.367000	0.80283	0.528000	0.53228	ACA		0.537	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			8	114	0	0	0	0.335167	0	8	114					C	1579616	T	C	1579616	3	2	324	1	0	0	0	0	1	0	0	0	12575	1696	59	3	4678	3	PRPF8	17	1579616	Missense_Mutation	SNP	T	TCGA-EM-A3FN-01A-11D-A21A-08		1579616	79615594	18	6858											
COL5A3	50509	broad.mit.edu	37	chr19	10071487	10071487	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagtaggtgaagttctggCgagctgtggcactcagcagt	16	7	2	1	rs371310005		TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr19:10071487C>T	ENST00000264828.3	-	66	5016	c.4931G>A	c.(4930-4932)cGc>cAc	p.R1644H		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1644	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GAAGTTCTGGCGAGCTGTGGC	0.607																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(4930-4932)cGc>cAc		collagen, type V, alpha 3		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	92	81	85		4931	-3.0	0.0	19		85	0,8600		0,0,4300	no	missense	COL5A3	NM_015719.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	1644/1746	10071487	1,13005	2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10071487C>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.4931G>A	19.37:g.10071487C>T	ENSP00000264828:p.Arg1644His						p.R1644H	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		66	5016	-			1644			Fibrillar collagen NC1.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.4931G>A	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	0.485	-0.877898	0.02550	2.27E-4	0.0	ENSG00000080573	ENST00000264828	T	0.73681	-0.77	4.03	-2.95	0.05564	Fibrillar collagen, C-terminal (4);	0.747869	0.12083	N	0.501168	T	0.52256	0.1723	N	0.12920	0.275	0.20563	N	0.999889	B	0.06786	0.001	B	0.08055	0.003	T	0.34453	-0.9828	10	0.30854	T	0.27	.	9.8885	0.41276	0.0:0.3105:0.0:0.6895	.	1644	P25940	CO5A3_HUMAN	H	1644	ENSP00000264828:R1644H	ENSP00000264828:R1644H	R	-	2	0	COL5A3	9932487	0.000000	0.05858	0.017000	0.16124	0.039000	0.13416	-2.222000	0.01215	-0.351000	0.08249	0.462000	0.41574	CGC		0.607	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		4	84	0	0	0	0.150653	0	4	84					T	10071487	C	T	10071487	3	4	324	1	0	0	0	0	1	0	0	0	3698	768	27	1	314	1	COL5A3	19	10071487	Missense_Mutation	SNP	C	TCGA-EM-A3FN-01A-11D-A21A-08		10071487	49057496	19	6859											
ZNF784	147808	broad.mit.edu	37	chr19	56133524	56133526	+	In_Frame_Del	DEL	CCG	CCG	-													aggcttccccaccgctgcgcCcgccgccgccgccgccatca							TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr19:56133524_56133526delCCG	ENST00000325351.4	-	2	602_604	c.563_565delCGG	c.(562-567)gcgggc>ggc	p.A188del	ZNF784_ENST00000591479.1_3'UTR	NM_203374.1	NP_976308.1	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	188					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			upper_aerodigestive_tract(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		accgctgcgcccgccgccgccgc	0.729																																						ENST00000325351.4																			0				upper_aerodigestive_tract(1)	1						c.(562-567)ggc>g		zinc finger protein 784				18,1752		6,6,873						3.5	0.1			4	51,3957		13,25,1966	no	coding	ZNF784	NM_203374.1		19,31,2839	A1A1,A1R,RR		1.2725,1.0169,1.1942				69,5709				SO:0001651	inframe_deletion	147808				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56133524_56133526delCCG	AK074859	CCDS12930.1	19q13.42	2013-01-08			ENSG00000179922	ENSG00000179922		"Zinc fingers, C2H2-type"	33111	protein-coding gene	gene with protein product							Standard	NM_203374		Approved	MGC75238	uc002qll.1	Q8NCA9	OTTHUMG00000180860	ENST00000325351.4:c.563_565delCGG	19.37:g.56133533_56133535delCCG	ENSP00000320096:p.Ala188del					ZNF784_ENST00000591479.1_3'UTR	p.AG188del	NM_203374.1	NP_976308.1	Q8NCA9	ZN784_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	2	602_604	-			188						In_Frame_Del	DEL	ENST00000325351.4	37	c.563_565delCGG	CCDS12930.1																																																																																				0.729	ZNF784-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453355.2	NM_203374		3	4						3	4	---	---	---	---	-	56133526	CCG	-	56133524	7	5	324	1	0	1	0	1	0	0	0	0	18153	623	22	0	410	0	ZNF784	19	56133524	In_Frame_Del	DEL	CCG	TCGA-EM-A3FN-01A-11D-A21A-08	46062037	56133524	2995459	20	6860											
AVP	551	broad.mit.edu	37	chr20	3065238	3065238	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggacatggccctcttgccgCccctcgggcagttctggaag	13	15	2	0			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr20:3065238C>T	ENST00000380293.3	-	1	132	c.83G>A	c.(82-84)gGc>gAc	p.G28D		NM_000490.4	NP_000481.2	P01185	NEU2_HUMAN	arginine vasopressin	28					cell-cell signaling (GO:0007267)|ERK1 and ERK2 cascade (GO:0070371)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|hyperosmotic salinity response (GO:0042538)|locomotory behavior (GO:0007626)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of female receptivity (GO:0007621)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of renal sodium excretion (GO:0035813)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to testosterone (GO:0033574)|signal transduction (GO:0007165)|social behavior (GO:0035176)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)|water transport (GO:0006833)	cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|neuropeptide hormone activity (GO:0005184)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|signal transducer activity (GO:0004871)|V1A vasopressin receptor binding (GO:0031894)			central_nervous_system(1)|prostate(1)|skin(1)	3				COAD - Colon adenocarcinoma(99;0.00643)		CCTCTTGCCGCCCCTCGGGCA	0.647																																						ENST00000380293.3																			0				central_nervous_system(1)|prostate(1)|skin(1)	3						c.(82-84)gGc>gAc		arginine vasopressin							118	110	113					20																	3065238		2203	4300	6503	SO:0001583	missense	551				cell-cell signaling|ERK1 and ERK2 cascade|generation of precursor metabolites and energy|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|protein kinase C signaling cascade|sodium-independent organic anion transport|transmembrane transport|vasoconstriction|water transport	cytosol|soluble fraction	caspase inhibitor activity|neurohypophyseal hormone activity|protein kinase activity|signal transducer activity|V1A vasopressin receptor binding	g.chr20:3065238C>T	M25647	CCDS13045.1	20p13	2014-09-17	2008-07-31		ENSG00000101200	ENSG00000101200		"Endogenous ligands"	894	protein-coding gene	gene with protein product	"antidiuretic hormone", "neurophysin II", "diabetes insipidus", "neurohypophyseal", "prepro-AVP-NP II", "prepro-arginine-vasopressin-neurophysin II"	192340		ARVP		1840604	Standard	NM_000490		Approved	ADH	uc002whu.3	P01185	OTTHUMG00000031733	ENST00000380293.3:c.83G>A	20.37:g.3065238C>T	ENSP00000369647:p.Gly28Asp						p.G28D	NM_000490.4	NP_000481.2	P01185	NEU2_HUMAN		COAD - Colon adenocarcinoma(99;0.00643)	1	132	-			28					A0AV35|O14935	Missense_Mutation	SNP	ENST00000380293.3	37	c.83G>A	CCDS13045.1	.	.	.	.	.	.	.	.	.	.	C	35	5.445266	0.96187	.	.	ENSG00000101200	ENST00000380293	D	0.99901	-7.65	5.46	5.46	0.80206	Neurohypophysial hormone, conserved site (2);	0.000000	0.85682	D	0.000000	D	0.99902	0.9953	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96317	0.9233	10	0.87932	D	0	.	19.3138	0.94204	0.0:1.0:0.0:0.0	.	28	P01185	NEU2_HUMAN	D	28	ENSP00000369647:G28D	ENSP00000369647:G28D	G	-	2	0	AVP	3013238	1.000000	0.71417	0.458000	0.27068	0.973000	0.67179	5.855000	0.69510	2.561000	0.86390	0.655000	0.94253	GGC		0.647	AVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077713.2	NM_000490		7	195	0	0	0	0.335167	0	7	195					T	3065238	C	T	3065238	3	4	324	1	0	0	0	0	1	0	0	0	1229	739	26	2	423	2	AVP	20	3065238	Missense_Mutation	SNP	C	TCGA-EM-A3FN-01A-11D-A21A-08		3065238	59960282	21	6861											
KRTAP12-3	386683	broad.mit.edu	37	chr21	46078031	46078031	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgcacgcgcattgtgtgCgtggctccctcctgccagcc	12	16	0	0			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr21:46078031C>T	ENST00000397907.1	+	1	183	c.135C>T	c.(133-135)tgC>tgT	p.C45C	TSPEAR_ENST00000323084.4_Intron	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN	keratin associated protein 12-3	45	14 X 5 AA approximate repeats.					keratin filament (GO:0045095)				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GCATTGTGTGCGTGGCTCCCT	0.642																																						ENST00000397907.1																			0				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(133-135)tgC>tgT		keratin associated protein 12-3							95	108	104					21																	46078031		2190	4268	6458	SO:0001819	synonymous_variant	386683					intermediate filament		g.chr21:46078031C>T	AB076361	CCDS42964.1	21q22.3	2006-03-13			ENSG00000205439	ENSG00000205439		"Keratin associated proteins"	20531	protein-coding gene	gene with protein product							Standard	NM_198697		Approved	KRTAP12.3	uc002zft.3	P60328	OTTHUMG00000057630	ENST00000397907.1:c.135C>T	21.37:g.46078031C>T						TSPEAR_ENST00000323084.4_Intron	p.C45C	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN			1	183	+			45			14 X 5 AA approximate repeats.			Silent	SNP	ENST00000397907.1	37	c.135C>T	CCDS42964.1																																																																																				0.642	KRTAP12-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128033.1			6	267	0	0	0	0.248553	0	6	267					T	46078031	C	T	46078031	2	4	324	1	0	0	0	0	0	0	0	1	8520	776	27	1		1	KRTAP12-3	21	46078031	Silent	SNP	C	TCGA-EM-A3FN-01A-11D-A21A-08		46078031	2051864	22	6862											
MOV10L1	54456	broad.mit.edu	37	chr22	50582545	50582545	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtacactttgccttgccggAcagtcggattttagtctgtg	12	9	1	0			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr22:50582545A>G	ENST00000262794.5	+	18	2461	c.2378A>G	c.(2377-2379)gAc>gGc	p.D793G	MOV10L1_ENST00000540615.1_Missense_Mutation_p.D773G|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395852.1_5'Flank|MOV10L1_ENST00000545383.1_Missense_Mutation_p.D793G|MOV10L1_ENST00000395858.3_Missense_Mutation_p.D793G	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	793					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GCCTTGCCGGACAGTCGGATT	0.562																																						ENST00000262794.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(2377-2379)gAc>gGc		Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)							275	229	244					22																	50582545		2203	4300	6503	SO:0001583	missense	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50582545A>G	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"cardiac helicase activated by MEF2C protein"	605794	"Mov10 (mouse)-like 1", "Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.2378A>G	22.37:g.50582545A>G	ENSP00000262794:p.Asp793Gly					MOV10L1_ENST00000540615.1_Missense_Mutation_p.D773G|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.D793G|MOV10L1_ENST00000545383.1_Missense_Mutation_p.D793G	p.D793G	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	18	2461	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	793					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	c.2378A>G	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	A	14.43	2.531817	0.45073	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	5.82	5.82	0.92795	.	0.260360	0.50627	D	0.000115	T	0.67126	0.2860	N	0.04355	-0.22	0.80722	D	1	P;B;P	0.50443	0.935;0.238;0.619	B;B;B	0.44108	0.441;0.179;0.268	T	0.74959	-0.3486	10	0.52906	T	0.07	-38.612	16.1832	0.81925	1.0:0.0:0.0:0.0	.	773;793;793	F5H403;A8MXC6;Q9BXT6	.;.;M10L1_HUMAN	G	793;793;793;773	ENSP00000438978:D793G;ENSP00000262794:D793G;ENSP00000379199:D793G;ENSP00000438542:D773G	ENSP00000262794:D793G	D	+	2	0	MOV10L1	48924672	1.000000	0.71417	0.988000	0.46212	0.975000	0.68041	3.415000	0.52700	2.218000	0.71995	0.533000	0.62120	GAC		0.562	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		78	158	0	0	0	0.870114	0	78	158					G	50582545	A	G	50582545	3	3	324	1	0	0	0	0	1	0	0	0	9719	275	10	3	2489	3	MOV10L1	22	50582545	Missense_Mutation	SNP	A	TCGA-EM-A3FN-01A-11D-A21A-08		50582545	722021	23	6863											
EIF1AX	1964	broad.mit.edu	37	chrX	20156735	20156735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcgtctgtttttacctcCtttacctgatggtttaaaaa	6	10	1	1			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chrX:20156735C>T	ENST00000379607.5	-	2	225	c.22G>A	c.(22-24)Gga>Aga	p.G8R	snoU2-30_ENST00000365012.1_RNA|EIF1AX-AS1_ENST00000424026.1_RNA|EIF1AX_ENST00000379593.1_Intron|snoU2_19_ENST00000364722.1_RNA	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	8					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						TTTTTACCTCCTTTACCTGAT	0.308																																						ENST00000379607.5																			0				endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.(22-24)Gga>Aga		eukaryotic translation initiation factor 1A, X-linked							135	126	129					X																	20156735		2203	4300	6503	SO:0001583	missense	1964					cytosol	translation initiation factor activity	g.chrX:20156735C>T	L18960	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674			3250	protein-coding gene	gene with protein product		300186	"eukaryotic translation initiation factor 1A, X chromosome"	EIF4C, EIF1A		8106356, 9381176	Standard	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.22G>A	X.37:g.20156735C>T	ENSP00000368927:p.Gly8Arg					EIF1AX_ENST00000379593.1_Intron	p.G8R	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN			2	225	-			8					B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Missense_Mutation	SNP	ENST00000379607.5	37	c.22G>A	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.722807	0.68959	.	.	ENSG00000173674	ENST00000379607	T	0.47528	0.84	4.94	4.94	0.65067	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.79143	0.4396	H	0.96365	3.81	0.80722	D	1	D	0.67145	0.996	D	0.79784	0.993	D	0.86825	0.2007	9	0.87932	D	0	-2.5166	17.661	0.88193	0.0:1.0:0.0:0.0	.	8	P47813	IF1AX_HUMAN	R	8	ENSP00000368927:G8R	ENSP00000368927:G8R	G	-	1	0	EIF1AX	20066656	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.237000	0.78164	2.187000	0.69744	0.600000	0.82982	GGA		0.308	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1			30	67	0	0	0	0.788014	0	30	67					T	20156735	C	T	20156735	3	4	324	1	0	0	0	0	1	0	0	0	4992	690	24	2	436	2	EIF1AX	23	20156735	Missense_Mutation	SNP	C	TCGA-EM-A3FN-01A-11D-A21A-08		20156735	135113825	24	6864											
ARX	170302	broad.mit.edu	37	chrX	25031220	25031220	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccctcagcgtcttccgggtGcagcagcagctcctccttgg	12	16	2	0			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chrX:25031220G>T	ENST00000379044.4	-	2	1102	c.892C>A	c.(892-894)Cac>Aac	p.H298N		NM_139058.2	NP_620689.1	Q96QS3	ARX_HUMAN	aristaless related homeobox	298					axon guidance (GO:0007411)|cell proliferation in forebrain (GO:0021846)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex tangential migration (GO:0021800)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|epithelial cell fate commitment (GO:0072148)|globus pallidus development (GO:0021759)|lipid digestion (GO:0044241)|positive regulation of organ growth (GO:0046622)|regulation of cell proliferation (GO:0042127)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)			kidney(1)|large_intestine(2)|lung(1)	4						TCTTCCGGGTGCAGCAGCAGC	0.697																																						ENST00000379044.4																			0				kidney(1)|large_intestine(2)|lung(1)	4						c.(892-894)Cac>Aac		aristaless related homeobox							24	18	20					X																	25031220		2202	4298	6500	SO:0001583	missense	170302					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:25031220G>T	AY038071	CCDS14215.1	Xp21.3	2011-06-20			ENSG00000004848	ENSG00000004848		"Homeoboxes / PRD class"	18060	protein-coding gene	gene with protein product	"cancer/testis antigen 121"	300382	"mental retardation, X-linked 54", "mental retardation, X-linked 43", "mental retardation, X-linked 36", "mental retardation, X-linked 29", "mental retardation, X-linked 32", "mental retardation, X-linked 33", "mental retardation, X-linked 38", "mental retardation, X-linked 87", "mental retardation, X-linked 76"	MRXS1, PRTS, MRX76, MRX54, MRX43, MRX36, MRX29, MRX32, MRX33, MRX38, MRX87		11889467, 15850492, 17480217	Standard	NM_139058		Approved	ISSX, CT121, EIEE1	uc004dbp.4	Q96QS3	OTTHUMG00000021275	ENST00000379044.4:c.892C>A	X.37:g.25031220G>T	ENSP00000368332:p.His298Asn						p.H298N	NM_139058.2	NP_620689.1	Q96QS3	ARX_HUMAN			2	1102	-			298						Missense_Mutation	SNP	ENST00000379044.4	37	c.892C>A	CCDS14215.1	.	.	.	.	.	.	.	.	.	.	g	8.820	0.937385	0.18206	.	.	ENSG00000004848	ENST00000379044	D	0.89681	-2.55	3.83	3.83	0.44106	.	0.061246	0.64402	U	0.000006	T	0.79358	0.4432	N	0.12182	0.205	0.43021	D	0.994579	B	0.10296	0.003	B	0.01281	0.0	T	0.74121	-0.3767	10	0.33141	T	0.24	.	14.9697	0.71223	0.0:0.0:1.0:0.0	.	298	Q96QS3	ARX_HUMAN	N	298	ENSP00000368332:H298N	ENSP00000368332:H298N	H	-	1	0	ARX	24941141	1.000000	0.71417	1.000000	0.80357	0.441000	0.31987	4.243000	0.58721	1.518000	0.48934	0.141000	0.15989	CAC		0.697	ARX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056109.1			6	12	1	0	3.09899e-07	0.307466	3.59201e-07	6	12					T	25031220	G	T	25031220	3	4	324	1	0	0	0	0	1	0	0	0	1004	1319	46	4	812	4	ARX	23	25031220	Missense_Mutation	SNP	G	TCGA-EM-A3FN-01A-11D-A21A-08	4874485	25031220	130239340	25	6865											
FAM47C	442444	broad.mit.edu	37	chrX	37027156	37027156	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagtgtcccatctccgcccaCagcctcccaagactcaggtg	9	17	2	1	rs368685662		TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chrX:37027156C>G	ENST00000358047.3	+	1	725	c.673C>G	c.(673-675)Cag>Gag	p.Q225E		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	225										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCTCCGCCCACAGCCTCCCAA	0.647																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(673-675)Cag>Gag		family with sequence similarity 47, member C							41	41	41					X																	37027156		2202	4298	6500	SO:0001583	missense	442444							g.chrX:37027156C>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.673C>G	X.37:g.37027156C>G	ENSP00000367913:p.Gln225Glu						p.Q225E	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	725	+			225					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.673C>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.683783	0.00101	.	.	ENSG00000198173	ENST00000358047	T	0.12672	2.66	0.96	0.96	0.19631	.	.	.	.	.	T	0.01870	0.0059	N	0.00114	-2.085	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37337	-0.9710	9	0.02654	T	1	.	2.8694	0.05611	0.2407:0.2933:0.466:0.0	.	225	Q5HY64	FA47C_HUMAN	E	225	ENSP00000367913:Q225E	ENSP00000367913:Q225E	Q	+	1	0	FAM47C	36937077	0.000000	0.05858	0.016000	0.15963	0.016000	0.09150	-3.060000	0.00624	-1.049000	0.03234	-1.043000	0.02367	CAG		0.647	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		6	75	0	0	0	0.248553	0	6	75					G	37027156	C	G	37027156	3	3	324	1	0	0	0	0	1	0	0	0	5571	479	17	4	675	4	FAM47C	23	37027156	Missense_Mutation	SNP	C	TCGA-EM-A3FN-01A-11D-A21A-08	11995936	37027156	118243404	26	6866											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	9	17	2	0	rs145580328		TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51	56	55					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		4	187	0	0	0	0.184627	0	4	187					G	37028425	A	G	37028425	3	3	324	1	0	0	0	0	1	0	0	0	5571	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-EM-A3FN-01A-11D-A21A-08	1269	37028425	118242135	27	6867											
SATL1	340562	broad.mit.edu	37	chrX	84363501	84363501	+	5'UTR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcttgtgcctaattggctGgtgcctacttgtctcatgct	11	10	1	0			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chrX:84363501G>A	ENST00000395409.3	-	0	473				SATL1_ENST00000332921.5_5'UTR|SATL1_ENST00000509231.1_Silent_p.T158T			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1								N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CTAATTGGCTGGTGCCTACTT	0.532											OREG0019887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000509231.1																			0				NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						c.(472-474)acC>acT		spermidine/spermine N1-acetyl transferase-like 1							252	152	183					X																	84363501		692	1591	2283	SO:0001623	5_prime_UTR_variant	340562						N-acetyltransferase activity	g.chrX:84363501G>A	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.-88C>T	X.37:g.84363501G>A			OREG0019887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1228	SATL1_ENST00000332921.5_5'UTR|SATL1_ENST00000395409.3_5'UTR	p.T158T			Q86VE3	SATL1_HUMAN			1	553	-			214			Gln-rich.		A0AVK7|E9PB72|Q5H8V9	Silent	SNP	ENST00000395409.3	37	c.474C>T																																																																																					0.532	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339		3	81	0	0	0	0.115264	0	3	81					A	84363501	G	A	84363501	1	1	324	0	1	0	0	0	0	0	0	0	13855	1335	47	2		2	SATL1	23	84363501	5'UTR	SNP	G	TCGA-EM-A3FN-01A-11D-A21A-08	47335076	84363501	70907059	28	6868											
PPM1J	333926	broad.mit.edu	37	chr1	113257891	113257892	+	Frame_Shift_Del	DEL	GT	GT	-													gcgcccccggagctcaccagGtgcgccacggccgagcgcac							TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr1:113257891_113257892delGT	ENST00000309276.6	-	1	207_208	c.32_33delAC	c.(31-33)cacfs	p.H11fs	PPM1J_ENST00000359994.4_5'Flank|PPM1J_ENST00000464951.1_5'UTR|RP11-426L16.9_ENST00000566195.1_RNA	NM_005167.5	NP_005158.5	Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	11					protein dephosphorylation (GO:0006470)		protein serine/threonine phosphatase activity (GO:0004722)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCTCACCAGGTGCGCCACGGC	0.802																																						ENST00000309276.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14						c.(31-33)cfs		protein phosphatase, Mg2+/Mn2+ dependent, 1J																																				SO:0001589	frameshift_variant	333926							g.chr1:113257891_113257892delGT	AK093270	CCDS855.2	1p13.1	2012-04-17	2010-03-05		ENSG00000155367	ENSG00000155367	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	20785	protein-coding gene	gene with protein product	"protein phosphatase 2C zeta"	609957	"protein phosphatase 1J (PP2C domain containing)"			12633878	Standard	NM_005167		Approved	FLJ35951, MGC19531, DKFZp434P1514, PP2Czeta, PPP2CZ	uc001ect.1	Q5JR12	OTTHUMG00000012019	ENST00000309276.6:c.32_33delAC	1.37:g.113257891_113257892delGT	ENSP00000308926:p.His11fs					PPM1J_ENST00000464951.1_5'UTR	p.H11fs	NM_005167.5	NP_005158.5	Q5JR12	PPM1J_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	207_208	-	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	11					B3KSB7|Q6DKJ7|Q96EZ7|Q9UF84	Frame_Shift_Del	DEL	ENST00000309276.6	37	c.32_33delAC	CCDS855.2																																																																																				0.802	PPM1J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033251.1	NM_005167		3	4						3	4	---	---	---	---	-	113257892	GT	-	113257891	7	5	325	1	0	1	0	1	0	0	0	0	12342	1252	44	0	1524	0	PPM1J	1	113257891	Frame_Shift_Del	DEL	GT	TCGA-EM-A3FO-01A-11D-A21A-08		113257891	135992730	1	6869											
ATP8B2	89872	broad.mit.edu	37	chr1	154300618	154300618	+	IGR	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgggatcttgctgggtgagAtggcagtgtgtgcaaaaaag	16	5	1	1			TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr1:154300618A>T	ENST00000324978.3	+	0	1791				ATP8B2_ENST00000368489.3_Missense_Mutation_p.M34L|ATP8B2_ENST00000341822.2_5'Flank|ATP8B2_ENST00000368487.3_Start_Codon_SNP_p.M1L	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10						response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCTGGGTGAGATGGCAGTGTG	0.552																																						ENST00000368489.3																		IL6R/ATP8B2(2)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(100-102)Atg>Ttg		ATPase, aminophospholipid transporter, class I, type 8B, member 2							131	124	127					1																	154300618		2203	4300	6503	SO:0001628	intergenic_variant	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154300618A>T	AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"Ion channels / Aquaporins"	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980		1.37:g.154300618A>T						ATP8B2_ENST00000368487.3_Start_Codon_SNP_p.M1L	p.M34L	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		2	100	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		0					Q5VYD3|Q5VYD4|Q8NG70	Missense_Mutation	SNP	ENST00000324978.3	37	c.100A>T	CCDS1065.1	.	.	.	.	.	.	.	.	.	.	A	18.28	3.590233	0.66105	.	.	ENSG00000143515	ENST00000368487;ENST00000368489	T;T	0.07567	3.82;3.18	4.84	4.84	0.62591	.	1.344360	0.04785	N	0.430573	T	0.05960	0.0155	.	.	.	0.80722	D	1	B;B	0.29805	0.04;0.257	B;P	0.44623	0.003;0.455	T	0.34004	-0.9846	9	0.16420	T	0.52	.	10.7989	0.46476	1.0:0.0:0.0:0.0	.	34;1	P98198-3;P98198-4	.;.	L	1;34	ENSP00000357472:M1L;ENSP00000357475:M34L	ENSP00000357472:M1L	M	+	1	0	ATP8B2	152567242	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.743000	0.62110	1.803000	0.52742	0.374000	0.22700	ATG		0.552	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429		6	134	0	0	0	1	0	6	134					T	154300618	A	T	154300618	1	4	325	0	1	0	0	0	0	0	0	0	1195	333	12	5		5	ATP8B2	1	154300618	IGR	SNP	A	TCGA-EM-A3FO-01A-11D-A21A-08	41042727	154300618	94950003	2	6870											
LMX1A	4009	broad.mit.edu	37	chr1	165322431	165322431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaagctgtcgttgagccGcagcagaaacctgtccaaga	11	12	0	4			TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr1:165322431G>A	ENST00000342310.3	-	3	527	c.145C>T	c.(145-147)Cgg>Tgg	p.R49W	LMX1A_ENST00000294816.2_Missense_Mutation_p.R49W|LMX1A_ENST00000367893.4_Missense_Mutation_p.R49W	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	49	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					TCGTTGAGCCGCAGCAGAAAC	0.607																																						ENST00000342310.3																			0				NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35						c.(145-147)Cgg>Tgg		LIM homeobox transcription factor 1, alpha							60	58	59					1																	165322431		2203	4300	6503	SO:0001583	missense	4009					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:165322431G>A	AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"Homeoboxes / LIM class"	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.145C>T	1.37:g.165322431G>A	ENSP00000340226:p.Arg49Trp					LMX1A_ENST00000294816.2_Missense_Mutation_p.R49W|LMX1A_ENST00000367893.4_Missense_Mutation_p.R49W	p.R49W	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN			3	527	-	all_hematologic(923;0.248)		49			LIM zinc-binding 1.		B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	Missense_Mutation	SNP	ENST00000342310.3	37	c.145C>T	CCDS1247.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941954	0.73557	.	.	ENSG00000162761	ENST00000342310;ENST00000294816;ENST00000367893	D;D;D	0.88664	-2.41;-2.41;-2.41	5.56	3.64	0.41730	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.92658	0.7667	M	0.83384	2.64	0.80722	D	1.000000	D	0.89917	1.0	D	0.97110	1.0	D	0.93516	0.6857	9	0.87932	D	0	.	12.706	0.57061	0.0:0.0:0.5696:0.4304	.	49	Q8TE12	LMX1A_HUMAN	W	49	ENSP00000340226:R49W;ENSP00000294816:R49W;ENSP00000356868:R49W	ENSP00000294816:R49W	R	-	1	2	LMX1A	163589055	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.455000	0.21843	0.654000	0.30846	0.561000	0.74099	CGG		0.607	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	NM_177398		3	70	0	0	0	1	0	3	70					A	165322431	G	A	165322431	3	1	325	1	0	0	0	0	1	0	0	0	8861	1086	38	1	1031	1	LMX1A	1	165322431	Missense_Mutation	SNP	G	TCGA-EM-A3FO-01A-11D-A21A-08	11021813	165322431	83928190	3	6871											
BAZ2B	29994	broad.mit.edu	37	chr2	160289578	160289578	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatttacaggtgaggaaaaAggggtgctacttgcagcagc	14	6	0	2			TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr2:160289578A>G	ENST00000392783.2	-	9	2085	c.1590T>C	c.(1588-1590)ccT>ccC	p.P530P	BAZ2B_ENST00000355831.2_Silent_p.P530P|BAZ2B_ENST00000343439.5_Silent_p.P528P|BAZ2B_ENST00000392782.1_Silent_p.P528P	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	530			P -> L (in dbSNP:rs3732287).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GTGAGGAAAAAGGGGTGCTAC	0.443																																						ENST00000392783.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(1588-1590)ccT>ccC		bromodomain adjacent to zinc finger domain, 2B							185	168	174					2																	160289578		1871	4104	5975	SO:0001819	synonymous_variant	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160289578A>G	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.1590T>C	2.37:g.160289578A>G						BAZ2B_ENST00000343439.5_Silent_p.P528P|BAZ2B_ENST00000392782.1_Silent_p.P528P|BAZ2B_ENST00000355831.2_Silent_p.P530P	p.P530P	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			9	2085	-			530		P -> L (in dbSNP:rs3732287).			D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Silent	SNP	ENST00000392783.2	37	c.1590T>C	CCDS2209.2																																																																																				0.443	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			3	190	0	0	0	1	0	3	190					G	160289578	A	G	160289578	2	3	325	1	0	0	0	0	0	0	0	1	1332	59	3	3		3	BAZ2B	2	160289578	Silent	SNP	A	TCGA-EM-A3FO-01A-11D-A21A-08		160289578	82909795	4	6872											
HTT	3064	broad.mit.edu	37	chr4	3076604	3076609	+	In_Frame_Del	DEL	CAGCAG	CAGCAG	-													tcgagtccctcaagtccttcCagcagcagcagcagcagcag					rs71180116|rs374076986	byFrequency	TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr4:3076604_3076609delCAGCAG	ENST00000355072.5	+	1	197_202	c.52_57delCAGCAG	c.(52-57)cagcagdel	p.QQ36del	HTT-AS_ENST00000503893.1_RNA	NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	36	Poly-Gln.				anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CAAGTCCTTCcagcagcagcagcagc	0.704														1892	0.377796	0.0741	0.3343	5008	,	,		6929	0.7421		0.327	False		,,,				2504	0.4959					ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(52-57)del		huntingtin				33,28,149		16,0,1,14,0,74						2.6	1.0		dbSNP_119	4	239,82,669		114,3,8,38,3,329	no	codingComplex	HTT	NM_002111.6		130,3,9,52,3,403	A1A1,A1A2,A1R,A2A2,A2R,RR		32.4242,29.0476,31.8333				272,110,818				SO:0001651	inframe_deletion	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3076604_3076609delCAGCAG	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.52_57delCAGCAG	4.37:g.3076610_3076615delCAGCAG	ENSP00000347184:p.Gln36_Gln37del						p.QQ36del	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	1	197_202	+		all_epithelial(65;0.18)	36			Poly-Gln.		Q9UQB7	In_Frame_Del	DEL	ENST00000355072.5	37	c.52_57delCAGCAG	CCDS43206.1																																																																																				0.704	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		3	6						3	6	---	---	---	---	-	3076609	CAGCAG	-	3076604	7	5	325	1	0	1	0	1	0	0	0	0	7457	595	21	0	54	0	HTT	4	3076604	In_Frame_Del	DEL	CAGCAG	TCGA-EM-A3FO-01A-11D-A21A-08		3076604	188077672	5	6873											
HTRA3	94031	broad.mit.edu	37	chr4	8307707	8307707	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cctgttggcagaggcggcatCcaagatggtgacatcatcgt	13	10	1	3	rs372465069		TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr4:8307707C>A	ENST00000307358.2	+	9	1410	c.1206C>A	c.(1204-1206)atC>atA	p.I402I		NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	402	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						GAGGCGGCATCCAAGATGGTG	0.642																																						ENST00000307358.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(1204-1206)atC>atA		HtrA serine peptidase 3							100	90	94					4																	8307707		2203	4300	6503	SO:0001819	synonymous_variant	94031				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr4:8307707C>A	AY040094	CCDS3400.1, CCDS75105.1	4p16.1	2008-02-05			ENSG00000170801	ENSG00000170801			30406	protein-coding gene	gene with protein product	"pregnancy-related serine protease"	608785				12513693, 14500695	Standard	XM_005248040		Approved	Tasp, Prsp	uc003gla.3	P83110	OTTHUMG00000090561	ENST00000307358.2:c.1206C>A	4.37:g.8307707C>A							p.I402I	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN			9	1410	+			402			PDZ.		Q7Z7A2	Silent	SNP	ENST00000307358.2	37	c.1206C>A	CCDS3400.1																																																																																				0.642	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092669.1	NM_053044		5	158	1	0	1	1	1	5	158					A	8307707	C	A	8307707	2	1	325	1	0	0	0	0	0	0	0	1	7455	845	30	4		4	HTRA3	4	8307707	Silent	SNP	C	TCGA-EM-A3FO-01A-11D-A21A-08	5231103	8307707	182846569	6	6874											
TACR3	6870	broad.mit.edu	37	chr4	104510921	104510921	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttggaattcctgcgagagCagccattgaaacttgggtct	11	8	1	2			TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr4:104510921C>A	ENST00000304883.2	-	5	1456	c.1316G>T	c.(1315-1317)tGc>tTc	p.C439F	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	439				C -> F (in Ref. 3; CAA46291). {ECO:0000305}.	aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CCTGCGAGAGCAGCCATTGAA	0.478																																						ENST00000304883.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(1315-1317)tGc>tTc		tachykinin receptor 3							169	161	164					4																	104510921		2203	4300	6503	SO:0001583	missense	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104510921C>A	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"GPCR / Class A : Tachykinin receptors"	11528	protein-coding gene	gene with protein product	"neurokinin beta receptor"	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.1316G>T	4.37:g.104510921C>A	ENSP00000303325:p.Cys439Phe					RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	p.C439F	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	5	1456	-		Hepatocellular(203;0.217)	439	C -> F (in Ref. 3; CAA46291).				Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	c.1316G>T	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.149785	0.37923	.	.	ENSG00000169836	ENST00000304883	T	0.64438	-0.1	5.54	4.69	0.59074	.	0.071033	0.64402	D	0.000013	T	0.69637	0.3133	M	0.73962	2.25	0.48236	D	0.999619	P	0.50710	0.938	P	0.49226	0.603	T	0.71984	-0.4427	10	0.41790	T	0.15	.	15.4754	0.75474	0.0:0.8611:0.1389:0.0	.	439	P29371	NK3R_HUMAN	F	439	ENSP00000303325:C439F	ENSP00000303325:C439F	C	-	2	0	TACR3	104730370	1.000000	0.71417	0.978000	0.43139	0.435000	0.31806	2.686000	0.46968	1.323000	0.45263	-0.274000	0.10170	TGC		0.478	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		4	174	1	0	0.217242	1	0.230021	4	174					A	104510921	C	A	104510921	3	1	325	1	0	0	0	0	1	0	0	0	15504	710	25	4	85	4	TACR3	4	104510921	Missense_Mutation	SNP	C	TCGA-EM-A3FO-01A-11D-A21A-08	96203214	104510921	86643355	7	6875											
RANBP9	10048	broad.mit.edu	37	chr6	13711709	13711709	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgctgttgctgctgctgcGgcggcggcggcggcggctgc	20	13	0	0			TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr6:13711709G>T	ENST00000011619.3	-	1	87	c.29C>A	c.(28-30)cCg>cAg	p.P10Q		NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	10	Poly-Pro.				axon guidance (GO:0007411)|microtubule nucleation (GO:0007020)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			ctgctgctgcggcggcggcgg	0.761																																						ENST00000011619.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16						c.(28-30)cCg>cAg		RAN binding protein 9							4	5	5					6																	13711709		764	1870	2634	SO:0001583	missense	10048				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding	g.chr6:13711709G>T	AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"Ran Binding Protein in the Microtubule organizing center"	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.29C>A	6.37:g.13711709G>T	ENSP00000011619:p.Pro10Gln						p.P10Q	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	Epithelial(50;0.223)		1	87	-	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	10			Poly-Pro.		A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Missense_Mutation	SNP	ENST00000011619.3	37	c.29C>A	CCDS4529.1	.	.	.	.	.	.	.	.	.	.	g	8.018	0.759040	0.15846	.	.	ENSG00000010017	ENST00000011619;ENST00000283152	T	0.78003	-1.14	1.59	-3.18	0.05186	.	.	.	.	.	T	0.30198	0.0757	N	0.08118	0	0.21416	N	0.999694	B	0.18968	0.032	B	0.10450	0.005	T	0.18555	-1.0333	9	0.30854	T	0.27	.	5.1241	0.14875	0.0:0.0:0.4149:0.5851	.	10	Q96S59	RANB9_HUMAN	Q	10	ENSP00000011619:P10Q	ENSP00000011619:P10Q	P	-	2	0	RANBP9	13819688	0.000000	0.05858	0.967000	0.41034	0.688000	0.40055	-1.054000	0.03496	-0.053000	0.13289	0.154000	0.16183	CCG		0.761	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1			5	22	1	0	3.59834e-05	1	4.17871e-05	5	22					T	13711709	G	T	13711709	3	4	325	1	0	0	0	0	1	0	0	0	13032	1116	39	4	2216	4	RANBP9	6	13711709	Missense_Mutation	SNP	G	TCGA-EM-A3FO-01A-11D-A21A-08		13711709	157403358	8	6876											
ENPP1	5167	broad.mit.edu	37	chr6	132171140	132171140	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attttttcagttaaaagttgCaaaggtcgctgtttcgagag	10	5	1	1			TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr6:132171140C>A	ENST00000360971.2	+	3	344	c.324C>A	c.(322-324)tgC>tgA	p.C108*		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	108	SMB 1. {ECO:0000255|PROSITE- ProRule:PRU00350}.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TTAAAAGTTGCAAAGGTCGCT	0.378																																					Colon(104;336 1535 5856 11019 33782)	ENST00000360971.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46						c.(322-324)tgC>tgA		ectonucleotide pyrophosphatase/phosphodiesterase 1	Amifostine(DB01143)|Ribavirin(DB00811)						115	110	112					6																	132171140		2203	4300	6503	SO:0001587	stop_gained	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132171140C>A	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.324C>A	6.37:g.132171140C>A	ENSP00000354238:p.Cys108*						p.C108*	NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	3	344	+	Breast(56;0.0505)		108			SMB 1.		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Nonsense_Mutation	SNP	ENST00000360971.2	37	c.324C>A	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610107	0.87258	.	.	ENSG00000197594	ENST00000360971	.	.	.	5.16	4.28	0.50868	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.2926	13.5748	0.61868	0.0:0.9183:0.0:0.0817	.	.	.	.	X	108	.	ENSP00000354238:C108X	C	+	3	2	ENPP1	132212833	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.836000	0.39191	2.563000	0.86464	0.650000	0.86243	TGC		0.378	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			10	89	1	0	1.49906e-05	1	1.79887e-05	10	89					A	132171140	C	A	132171140	4	1	325	1	0	0	0	0	0	1	0	0	5129	718	25	4	334	4	ENPP1	6	132171140	Nonsense_Mutation	SNP	C	TCGA-EM-A3FO-01A-11D-A21A-08	118459431	132171140	38943927	9	6877											
ZC3HC1	51530	broad.mit.edu	37	chr7	129666092	129666092	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtttttctctcatcagttcGgtgatcaagttcatcttcaa	6	9	7	1			TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr7:129666092G>T	ENST00000358303.4	-	6	766	c.682C>A	c.(682-684)Cga>Aga	p.R228R	ZC3HC1_ENST00000481503.1_Silent_p.R228R|RP11-306G20.1_ENST00000587038.1_RNA|RNA5SP245_ENST00000364239.1_RNA|RP11-306G20.1_ENST00000480018.1_RNA|ZC3HC1_ENST00000360708.5_Silent_p.R228R|ZC3HC1_ENST00000311873.5_Silent_p.R207R	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	228					mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein ubiquitination (GO:0016567)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					TCATCAGTTCGGTGATCAAGT	0.448																																					Melanoma(115;540 1606 16325 28853 48167)	ENST00000358303.4																			0				endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22						c.(682-684)Cga>Aga		zinc finger, C3HC-type containing 1							202	170	181					7																	129666092		2203	4300	6503	SO:0001819	synonymous_variant	51530				cell division|mitosis	nucleus	protein kinase binding|zinc ion binding	g.chr7:129666092G>T	AF151050	CCDS34753.1, CCDS64767.1, CCDS75659.1	7q32.2	2013-01-17			ENSG00000091732	ENSG00000091732		"Zinc fingers, C3HC-type"	29913	protein-coding gene	gene with protein product	"nuclear interaction partner of ALK"					11042152	Standard	XM_005250403		Approved	NIPA	uc003vpi.3	Q86WB0	OTTHUMG00000157648	ENST00000358303.4:c.682C>A	7.37:g.129666092G>T						RP11-306G20.1_ENST00000480018.1_RNA|RP11-306G20.1_ENST00000587038.1_RNA|ZC3HC1_ENST00000360708.5_Silent_p.R228R|ZC3HC1_ENST00000481503.1_Silent_p.R228R|ZC3HC1_ENST00000311873.5_Silent_p.R207R	p.R228R	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN			6	766	-	Melanoma(18;0.0435)		228					A6NH66|Q75MF3|Q75MF4|Q8N330|Q96F75|Q9HA34|Q9NVX4|Q9P0R0	Silent	SNP	ENST00000358303.4	37	c.682C>A	CCDS34753.1																																																																																				0.448	ZC3HC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349316.1	NM_016478		3	75	1	0	1	1	1	3	75					T	129666092	G	T	129666092	2	4	325	1	0	0	0	0	0	0	0	1	17574	1124	39	4		4	ZC3HC1	7	129666092	Silent	SNP	G	TCGA-EM-A3FO-01A-11D-A21A-08		129666092	29472571	10	6878											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		33	51	0	0	0	1	0	33	51					T	140453136	A	T	140453136	3	4	325	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A3FO-01A-11D-A21A-08	10787044	140453136	18685527	11	6879											
TP53INP1	94241	broad.mit.edu	37	chr8	95952411	95952411	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcactgatgtcctcctcTtcttcttcttcttctgctga	4	14	8	2	rs548441545|rs563445319	byFrequency	TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr8:95952411T>C	ENST00000342697.4	-	3	557	c.150A>G	c.(148-150)gaA>gaG	p.E50E	TP53INP1_ENST00000378776.4_Silent_p.E50E|NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_Silent_p.E50E	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	50	Glu-rich.				apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to hydroperoxide (GO:0071447)|cellular response to methyl methanesulfonate (GO:0072703)|cellular response to UV (GO:0034644)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|response to heat (GO:0009408)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)	p.E50E(1)		kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					TGTCCTCCTCTTCTTCTTCTT	0.463													T|||	1	0.000199681	0	0.0014	5008	,	,		21718	0		0	False		,,,				2504	0					ENST00000342697.4																			1	Substitution - coding silent(1)	p.E50E(1)	large_intestine(1)	kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9						c.(148-150)gaA>gaG		tumor protein p53 inducible nuclear protein 1							107	117	114					8																	95952411		2203	4300	6503	SO:0001819	synonymous_variant	0				apoptosis	PML body		g.chr8:95952411T>C	AF409115	CCDS6265.1, CCDS47899.1	8q22	2004-03-11				ENSG00000164938			18022	protein-coding gene	gene with protein product		606185				11511362, 12438758	Standard	NM_033285		Approved	DKFZp434M1317, FLJ22139, P53DINP1, SIP, TP53INP1A, TP53INP1B, Teap	uc003yhg.3	Q96A56		ENST00000342697.4:c.150A>G	8.37:g.95952411T>C						NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000378776.4_Silent_p.E50E|TP53INP1_ENST00000448464.2_Silent_p.E50E	p.E50E	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN			3	557	-	Breast(36;8.75e-07)		50			Glu-rich.		B2RCE5|Q969R9	Silent	SNP	ENST00000342697.4	37	c.150A>G	CCDS6265.1																																																																																				0.463	TP53INP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379818.1			3	61	0	0	0	1	0	3	61					C	95952411	T	C	95952411	2	2	325	1	0	0	0	0	0	0	0	1	16385	1606	56	3		3	TP53INP1	8	95952411	Silent	SNP	T	TCGA-EM-A3FO-01A-11D-A21A-08		95952411	50411611	12	6880											
NLRP6	171389	broad.mit.edu	37	chr11	281566	281566	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagccagaggaggaggaggAgggagaggagcccaactacc	18	8	0	3			TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr11:281566A>G	ENST00000312165.5	+	4	1832	c.1832A>G	c.(1831-1833)gAg>gGg	p.E611G	NLRP6_ENST00000534750.1_Missense_Mutation_p.E611G	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGGAGGAGGAGGGAGAGGAG	0.662																																						ENST00000534750.1																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(1831-1833)gAg>gGg		NLR family, pyrin domain containing 6							76	89	84					11																	281566		2203	4299	6502	SO:0001583	missense	171389					cytoplasm	ATP binding	g.chr11:281566A>G	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"Nucleotide-binding domain and leucine rich repeat containing"	22944	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"	609650	"NACHT, leucine rich repeat and PYD containing 6"	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1832A>G	11.37:g.281566A>G	ENSP00000309767:p.Glu611Gly					NLRP6_ENST00000312165.5_Missense_Mutation_p.E611G	p.E611G	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	2037	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	611			Poly-Glu.		A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	c.1832A>G	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.454845	0.26161	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.75367	-0.93;-0.9	3.22	3.22	0.36961	.	0.671525	0.12247	N	0.485944	T	0.80204	0.4580	L	0.57536	1.79	0.32256	N	0.570815	D;D	0.71674	0.998;0.998	D;D	0.72982	0.979;0.979	T	0.76013	-0.3114	10	0.21540	T	0.41	.	8.1671	0.31233	1.0:0.0:0.0:0.0	.	611;611	E9PJZ8;P59044	.;NALP6_HUMAN	G	611	ENSP00000433617:E611G;ENSP00000309767:E611G	ENSP00000309767:E611G	E	+	2	0	NLRP6	271566	0.811000	0.29063	0.618000	0.29105	0.573000	0.36030	0.753000	0.26376	1.704000	0.51252	0.379000	0.24179	GAG		0.662	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		4	184	0	0	0	1	0	4	184					G	281566	A	G	281566	3	3	325	1	0	0	0	0	1	0	0	0	10481	304	11	3	1846	3	NLRP6	11	281566	Missense_Mutation	SNP	A	TCGA-EM-A3FO-01A-11D-A21A-08		281566	134724950	13	6881											
NACA	4666	broad.mit.edu	37	chr12	57111705	57111705	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctagacctccttttggggaGggaggagttgcagctggggt	18	7	0	1	rs2926746		TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr12:57111705G>A	ENST00000454682.1	-	3	3890	c.3609C>T	c.(3607-3609)ccC>ccT	p.P1203P	NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1203	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTTGGGGAGGGAGGAGTTG	0.642			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3607-3609)ccC>ccT		nascent polypeptide-associated complex alpha subunit							64	76	73					12																	57111705		1233	2868	4101	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57111705G>A	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3609C>T	12.37:g.57111705G>A						NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron	p.P1203P	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3890	-			0						Silent	SNP	ENST00000454682.1	37	c.3609C>T																																																																																					0.642	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		5	110	0	0	0	1	0	5	110					A	57111705	G	A	57111705	2	1	325	1	0	0	0	0	0	0	0	1	10133	987	35	2		2	NACA	12	57111705	Silent	SNP	G	TCGA-EM-A3FO-01A-11D-A21A-08		57111705	76740190	14	6882											
DYNC1H1	1778	broad.mit.edu	37	chr14	102484914	102484914	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcggacgtatgcagagccGctcactgctgccatggtgga	14	12	1	1	rs77113510	byFrequency	TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr14:102484914G>A	ENST00000360184.4	+	41	8468	c.8304G>A	c.(8302-8304)ccG>ccA	p.P2768P		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2768	AAA 3. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ATGCAGAGCCGCTCACTGCTG	0.537													G|||	12	0.00239617	0.0045	0.0086	5008	,	,		22649	0		0	False		,,,				2504	0					ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(8302-8304)ccG>ccA		dynein, cytoplasmic 1, heavy chain 1		G		11,4395	17.9+/-39.9	0,11,2192	81	65	71		8304	-10.5	0.7	14	dbSNP_132	71	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous	DYNC1H1	NM_001376.4		0,18,6485	AA,AG,GG		0.0814,0.2497,0.1384		2768/4647	102484914	18,12988	2203	4300	6503	SO:0001819	synonymous_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102484914G>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.8304G>A	14.37:g.102484914G>A							p.P2768P	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			41	8468	+			2768			AAA 3 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.8304G>A	CCDS9966.1																																																																																				0.537	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		3	57	0	0	0	1	0	3	57					A	102484914	G	A	102484914	2	1	325	1	0	0	0	0	0	0	0	1	4841	1074	38	1		1	DYNC1H1	14	102484914	Silent	SNP	G	TCGA-EM-A3FO-01A-11D-A21A-08		102484914	4864626	15	6883											
PIK3R5	23533	broad.mit.edu	37	chr17	8809033	8809033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggccagcggggtgagcaggtCgtaggtgcccttctcctgga	17	11	1	1	rs376420068		TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr17:8809033C>T	ENST00000447110.1	-	4	350	c.226G>A	c.(226-228)Gac>Aac	p.D76N	PIK3R5_ENST00000584803.1_Missense_Mutation_p.D76N|PIK3R5_ENST00000581552.1_Missense_Mutation_p.D76N	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	76	Heterodimerization. {ECO:0000250}.				blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GTGAGCAGGTCGTAGGTGCCC	0.602																																					NSCLC(18;589 615 7696 20311 50332)	ENST00000447110.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(226-228)Gac>Aac		phosphoinositide-3-kinase, regulatory subunit 5							61	47	52					17																	8809033		2202	4296	6498	SO:0001583	missense	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8809033C>T	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.226G>A	17.37:g.8809033C>T	ENSP00000392812:p.Asp76Asn					PIK3R5_ENST00000581552.1_Missense_Mutation_p.D76N|PIK3R5_ENST00000584803.1_Missense_Mutation_p.D76N	p.D76N	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN			4	350	-			76			Heterodimerization (By similarity).		B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	c.226G>A	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.762466	0.31228	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T;T	0.78707	-1.2;-1.2	5.47	4.49	0.54785	.	0.188106	0.47455	D	0.000223	T	0.77491	0.4138	L	0.29908	0.895	0.38902	D	0.957342	D	0.61697	0.99	P	0.59825	0.864	T	0.77638	-0.2513	10	0.42905	T	0.14	-31.2407	11.9924	0.53182	0.0:0.9187:0.0:0.0813	.	76	Q8WYR1	PI3R5_HUMAN	N	76	ENSP00000269300:D76N;ENSP00000392812:D76N	ENSP00000269300:D76N	D	-	1	0	PIK3R5	8749758	0.998000	0.40836	0.999000	0.59377	0.381000	0.30169	2.406000	0.44557	2.715000	0.92844	0.655000	0.94253	GAC		0.602	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		8	14	0	0	0	1	0	8	14					T	8809033	C	T	8809033	3	4	325	1	0	0	0	0	1	0	0	0	11922	884	31	1	2480	1	PIK3R5	17	8809033	Missense_Mutation	SNP	C	TCGA-EM-A3FO-01A-11D-A21A-08		8809033	72386177	16	6884											
ACACA	31	broad.mit.edu	37	chr17	35603828	35603828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcccagcagaaggtgagcGcatcaccgatgggtcatttt	11	11	2	2			TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr17:35603828G>A	ENST00000394406.2	-	19	2453	c.2263C>T	c.(2263-2265)Cgc>Tgc	p.R755C	ACACA_ENST00000360679.3_Missense_Mutation_p.R697C|ACACA_ENST00000335166.5_Missense_Mutation_p.R677C|ACACA_ENST00000353139.5_Missense_Mutation_p.R792C	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	755	Biotinyl-binding. {ECO:0000255|PROSITE- ProRule:PRU01066}.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GAAGGTGAGCGCATCACCGAT	0.458																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(2374-2376)Cgc>Tgc		acetyl-CoA carboxylase alpha	Biotin(DB00121)						168	144	152					17																	35603828		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35603828G>A	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.2263C>T	17.37:g.35603828G>A	ENSP00000377928:p.Arg755Cys					ACACA_ENST00000394406.2_Missense_Mutation_p.R755C|ACACA_ENST00000360679.3_Missense_Mutation_p.R697C|ACACA_ENST00000335166.5_Missense_Mutation_p.R677C	p.R792C	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			19	2855	-		Breast(25;0.00157)|Ovarian(249;0.15)	755			Biotinyl-binding.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.2374C>T	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979138	0.53827	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	5.17	5.17	0.71159	Single hybrid motif (1);Biotin/lipoyl attachment (2);	0.050493	0.85682	D	0.000000	T	0.80670	0.4667	M	0.89658	3.05	0.80722	D	1	D;D;D	0.89917	1.0;0.974;0.968	D;P;P	0.72982	0.979;0.802;0.651	D	0.84321	0.0516	10	0.66056	D	0.02	-4.9752	17.8286	0.88673	0.0:0.0:1.0:0.0	.	792;755;697	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	C	792;697;755;779;677	ENSP00000344789:R792C;ENSP00000353898:R697C;ENSP00000377928:R755C;ENSP00000335323:R677C	ENSP00000335323:R677C	R	-	1	0	ACACA	32677941	1.000000	0.71417	0.946000	0.38457	0.019000	0.09904	6.464000	0.73534	2.678000	0.91216	0.655000	0.94253	CGC		0.458	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		4	149	0	0	0	1	0	4	149					A	35603828	G	A	35603828	3	1	325	1	0	0	0	0	1	0	0	0	106	1087	38	1	4929	1	ACACA	17	35603828	Missense_Mutation	SNP	G	TCGA-EM-A3FO-01A-11D-A21A-08	26794795	35603828	45591382	17	6885											
EPX	8288	broad.mit.edu	37	chr17	56274516	56274516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgctggccatcaaccagCgctttcaagacaacggccgg	12	14	2	1	rs116223936		TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr17:56274516C>T	ENST00000225371.5	+	7	1128	c.1018C>T	c.(1018-1020)Cgc>Tgc	p.R340C		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	340					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	CATCAACCAGCGCTTTCAAGA	0.647													C|||	1	0.000199681	8e-04	0	5008	,	,		18034	0		0	False		,,,				2504	0					ENST00000225371.5																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						c.(1018-1020)Cgc>Tgc		eosinophil peroxidase		C	CYS/ARG	10,4396	16.8+/-37.8	0,10,2193	95	92	93		1018	3.9	0.0	17	dbSNP_132	93	0,8600		0,0,4300	yes	missense	EPX	NM_000502.4	180	0,10,6493	TT,TC,CC		0.0,0.227,0.0769	probably-damaging	340/716	56274516	10,12996	2203	4300	6503	SO:0001583	missense	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56274516C>T	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.1018C>T	17.37:g.56274516C>T	ENSP00000225371:p.Arg340Cys						p.R340C	NM_000502.4	NP_000493.1	P11678	PERE_HUMAN			7	1128	+			340					Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	c.1018C>T	CCDS11602.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.90	1.778051	0.31502	0.00227	0.0	ENSG00000121053	ENST00000225371	T	0.69306	-0.39	4.86	3.89	0.44902	.	0.873628	0.10583	N	0.657691	T	0.78136	0.4236	M	0.91090	3.175	0.09310	N	1	D	0.60160	0.987	P	0.51385	0.668	T	0.68573	-0.5373	10	0.87932	D	0	-1.4796	6.6492	0.22953	0.1756:0.7316:0.0:0.0928	.	340	P11678	PERE_HUMAN	C	340	ENSP00000225371:R340C	ENSP00000225371:R340C	R	+	1	0	EPX	53629515	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	0.067000	0.14510	1.174000	0.42811	0.462000	0.41574	CGC		0.647	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		12	139	0	0	0	1	0	12	139					T	56274516	C	T	56274516	3	4	325	1	0	0	0	0	1	0	0	0	5200	768	27	1	1044	1	EPX	17	56274516	Missense_Mutation	SNP	C	TCGA-EM-A3FO-01A-11D-A21A-08	20670688	56274516	24920694	18	6886											
SERPINB2	5055	broad.mit.edu	37	chr18	61569116	61569116	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcctttccgtgtaaactcGgtatgagacaacaaaataca	6	9	0	1	rs150189388		TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr18:61569116G>A	ENST00000299502.4	+	6	758	c.678G>A	c.(676-678)tcG>tcA	p.S226S	SERPINB2_ENST00000457692.1_Splice_Site_p.S226S|SERPINB2_ENST00000482254.1_3'UTR	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	226					blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Tenecteplase(DB00031)|Urokinase(DB00013)	GTGTAAACTCGGTATGAGACA	0.373																																						ENST00000457692.1																			0				NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32						c.e7+1		serpin peptidase inhibitor, clade B (ovalbumin), member 2	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	G	,	1,4405	2.1+/-5.4	0,1,2202	87	91	90		678,678	5.8	1.0	18	dbSNP_134	90	0,8600		0,0,4300	no	coding-synonymous-near-splice,coding-synonymous-near-splice	SERPINB2	NM_001143818.1,NM_002575.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	226/416,226/416	61569116	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	5055				anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr18:61569116G>A	Y00630	CCDS11989.1	18q21.3	2014-02-18	2005-08-18		ENSG00000197632	ENSG00000197632		"Serine (or cysteine) peptidase inhibitors"	8584	protein-coding gene	gene with protein product		173390	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2"	PLANH2, PAI2		24172014	Standard	NM_002575		Approved	HsT1201	uc002ljo.3	P05120	OTTHUMG00000060592	ENST00000299502.4:c.678+1G>A	18.37:g.61569116G>A						SERPINB2_ENST00000299502.4_Splice_Site_p.S226_splice|SERPINB2_ENST00000482254.1_3'UTR	p.S226_splice	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN			7	1011	+		Esophageal squamous(42;0.131)	226					Q96E96	Splice_Site	SNP	ENST00000299502.4	37	c.678_splice	CCDS11989.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.472794	0.43942	2.27E-4	0.0	ENSG00000242550	ENST00000397996;ENST00000418725	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	T	0.75354	0.3838	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72679	-0.4220	4	.	.	.	.	19.0295	0.92950	0.0:0.0:1.0:0.0	.	.	.	.	S	103	.	.	G	+	1	0	SERPINB10	59720096	1.000000	0.71417	0.966000	0.40874	0.814000	0.46013	6.594000	0.74104	2.751000	0.94390	0.650000	0.86243	GGC		0.373	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134009.1	NM_002575	Silent	6	95	0	0	0	1	0	6	95					A	61569116	G	A	61569116	5	1	325	1	0	0	0	0	0	0	1	0	14101	1130	39	1	696	1	SERPINB2	18	61569116	Splice_Site	SNP	G	TCGA-EM-A3FO-01A-11D-A21A-08		61569116	16508132	19	6887											
ZNF468	90333	broad.mit.edu	37	chr19	53344535	53344535	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttgccagatatgaattatAtgcgaaagcctcatcacaaa	6	8	2	2			TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr19:53344535A>G	ENST00000595646.1	-	4	1132	c.1012T>C	c.(1012-1014)Tat>Cat	p.Y338H	ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Missense_Mutation_p.Y285H|ZNF468_ENST00000396409.4_Missense_Mutation_p.Y285H			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	338					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(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		TATGAATTATATGCGAAAGCC	0.368																																						ENST00000595646.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23						c.(1012-1014)Tat>Cat		zinc finger protein 468							125	129	128					19																	53344535		2203	4300	6503	SO:0001583	missense	90333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53344535A>G	AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"Zinc fingers, C2H2-type", "-"	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.1012T>C	19.37:g.53344535A>G	ENSP00000470381:p.Tyr338His					ZNF468_ENST00000396409.4_Missense_Mutation_p.Y285H|ZNF468_ENST00000243639.4_3'UTR|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Missense_Mutation_p.Y285H	p.Y338H			Q5VIY5	ZN468_HUMAN		GBM - Glioblastoma multiforme(134;0.0358)	4	1132	-			338					A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Missense_Mutation	SNP	ENST00000595646.1	37	c.1012T>C	CCDS33094.1	.	.	.	.	.	.	.	.	.	.	-	0.004	-2.380680	0.00205	.	.	ENSG00000204604	ENST00000243639;ENST00000396409;ENST00000390651;ENST00000393865	T;T	0.17528	2.27;2.27	1.99	-3.98	0.04082	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06371	0.0164	N	0.11789	0.175	0.09310	N	1	B	0.23377	0.084	B	0.21151	0.033	T	0.23726	-1.0180	9	0.21540	T	0.41	.	0.9882	0.01451	0.3155:0.2748:0.271:0.1387	.	338	Q5VIY5	ZN468_HUMAN	H	338;285;285;88	ENSP00000379690:Y285H;ENSP00000445669:Y285H	ENSP00000243639:Y338H	Y	-	1	0	ZNF468	58036347	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.687000	0.01927	-3.021000	0.00269	-1.713000	0.00713	TAT		0.368	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801		3	161	0	0	0	1	0	3	161					G	53344535	A	G	53344535	3	3	325	1	0	0	0	0	1	0	0	0	17925	449	16	3	560	3	ZNF468	19	53344535	Missense_Mutation	SNP	A	TCGA-EM-A3FO-01A-11D-A21A-08		53344535	5784448	20	6888											
MAPRE1	22919	broad.mit.edu	37	chr20	31427653	31427653	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gacgacgaggcagctgagttGatgcagcaggtgggcacccc	16	11	0	2			TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr20:31427653G>T	ENST00000375571.5	+	5	727	c.588G>T	c.(586-588)ttG>ttT	p.L196F		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	196	EB1 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00576}.|Interaction with CDK5RAP2.|Interaction with MTUS2/TIP150.				cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of microtubule plus-end binding (GO:1903033)|protein localization to microtubule (GO:0035372)	cell projection membrane (GO:0031253)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule plus-end (GO:0035371)	microtubule plus-end binding (GO:0051010)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						CAGCTGAGTTGATGCAGCAGG	0.587																																						ENST00000375571.5																			0				endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						c.(586-588)ttG>ttT		microtubule-associated protein, RP/EB family, member 1							112	115	114					20																	31427653		2203	4300	6503	SO:0001583	missense	22919				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding	g.chr20:31427653G>T	U24166	CCDS13208.1	20q11.1-q11.3	2013-01-17			ENSG00000101367	ENSG00000101367			6890	protein-coding gene	gene with protein product	"adenomatous polyposis coli-binding protein EB1"	603108				7606712, 9724749, 11470413	Standard	NM_012325		Approved	EB1	uc002wyh.3	Q15691	OTTHUMG00000032228	ENST00000375571.5:c.588G>T	20.37:g.31427653G>T	ENSP00000364721:p.Leu196Phe						p.L196F	NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN			5	727	+			196			EB1 C-terminal.|Interaction with CDK5RAP2.|Interaction with MTUS2/TIP150.		B2R6I7|E1P5M8|Q3KQS8	Missense_Mutation	SNP	ENST00000375571.5	37	c.588G>T	CCDS13208.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824247	0.50739	.	.	ENSG00000101367	ENST00000375571	T	0.59224	0.28	5.11	4.15	0.48705	EB1, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.62792	0.2457	M	0.91406	3.205	0.58432	D	0.999992	B	0.29531	0.247	B	0.28139	0.086	T	0.67503	-0.5654	10	0.62326	D	0.03	-5.4712	8.6764	0.34181	0.08:0.1523:0.7677:0.0	.	196	Q15691	MARE1_HUMAN	F	196	ENSP00000364721:L196F	ENSP00000364721:L196F	L	+	3	2	MAPRE1	30891314	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	2.081000	0.41596	1.521000	0.48983	0.655000	0.94253	TTG		0.587	MAPRE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078647.2	NM_012325		4	183	1	0	2.0095e-06	1	2.49455e-06	4	183					T	31427653	G	T	31427653	3	4	325	1	0	0	0	0	1	0	0	0	9294	1281	45	4	602	4	MAPRE1	20	31427653	Missense_Mutation	SNP	G	TCGA-EM-A3FO-01A-11D-A21A-08		31427653	31597867	21	6889											
AR	367	broad.mit.edu	37	chrX	66765243	66765245	+	In_Frame_Del	DEL	GCA	GCA	-													cagcaagagactagccccagGcagcagcagcagcagcaggg							TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chrX:66765243_66765245delGCA	ENST00000374690.3	+	1	779_781	c.255_257delGCA	c.(253-258)aggcag>agg	p.Q91del	AR_ENST00000504326.1_In_Frame_Del_p.Q91del|AR_ENST00000396044.3_In_Frame_Del_p.Q91del|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	89	Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|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)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	ctagccccaggcagcagcagcag	0.631									Androgen Insensitivity Syndrome																													ENST00000374690.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67						c.(253-258)agg>ag		androgen receptor	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)			106,3549		2,75,27,1499,476						1.9	0.0			13	273,6108		4,143,122,2190,1585	no	coding	AR	NM_000044.3		6,218,149,3689,2061	A1A1,A1R,A1,RR,R		4.2783,2.9001,3.7764				379,9657				SO:0001651	inframe_deletion	367	Androgen Insensitivity Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66765243_66765245delGCA	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.255_257delGCA	X.37:g.66765252_66765254delGCA	ENSP00000363822:p.Gln91del					AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_In_Frame_Del_p.RQ85del|AR_ENST00000396044.3_In_Frame_Del_p.RQ85del	p.RQ85del	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN			1	779_781	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	83			Gln-rich.|Modulating.|Poly-Gln.		A2RUN2|B1AKD7|Q9UD95	In_Frame_Del	DEL	ENST00000374690.3	37	c.255_257delGCA	CCDS14387.1																																																																																				0.631	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		2	4						2	4	---	---	---	---	-	66765245	GCA	-	66765243	7	5	325	1	0	1	0	1	0	0	0	0	836	1194	42	0	257	0	AR	23	66765243	In_Frame_Del	DEL	GCA	TCGA-EM-A3FO-01A-11D-A21A-08		66765243	88505317	22	6890											
MBNL3	55796	broad.mit.edu	37	chrX	131525027	131525027	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cacagtattatcactcgcttCaatcatggaagcatcagtag	7	10	4	0			TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chrX:131525027C>T	ENST00000370853.3	-	4	697	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K	MBNL3_ENST00000370849.3_Missense_Mutation_p.E157K|MBNL3_ENST00000370857.3_Missense_Mutation_p.E207K|RAP2C-AS1_ENST00000421483.2_RNA|MBNL3_ENST00000538204.1_Missense_Mutation_p.E157K|MBNL3_ENST00000394311.2_Missense_Mutation_p.E111K|MBNL3_ENST00000370839.3_Missense_Mutation_p.E207K|MBNL3_ENST00000370844.1_Missense_Mutation_p.E111K|MBNL3_ENST00000473364.1_5'UTR|RAP2C-AS1_ENST00000441399.2_RNA	NM_018388.3	NP_060858.2	Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	207					mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|negative regulation of myoblast differentiation (GO:0045662)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					TCACTCGCTTCAATCATGGAA	0.468																																						ENST00000538204.1																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16						c.(469-471)Gaa>Aaa		muscleblind-like splicing regulator 3							143	114	124					X																	131525027		2203	4300	6503	SO:0001583	missense	55796				mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding	g.chrX:131525027C>T	AF491305	CCDS14633.1, CCDS14634.1, CCDS55492.1, CCDS55493.1, CCDS55494.1	Xq26.2	2013-01-18	2012-02-23		ENSG00000076770	ENSG00000076770		"Zinc fingers, CCCH-type domain containing"	20564	protein-coding gene	gene with protein product		300413	"muscleblind-like 3 (Drosophila)"			12297108, 10970838	Standard	NM_018388		Approved	CHCR, FLJ11316, MBLX39, MBXL	uc004ewv.4	Q9NUK0	OTTHUMG00000022426	ENST00000370853.3:c.619G>A	X.37:g.131525027C>T	ENSP00000359890:p.Glu207Lys					MBNL3_ENST00000370849.3_Missense_Mutation_p.E157K|MBNL3_ENST00000370857.3_Missense_Mutation_p.E207K|MBNL3_ENST00000473364.1_5'UTR|RP5-842K24.2_ENST00000441399.1_RNA|MBNL3_ENST00000370844.1_Missense_Mutation_p.E111K|MBNL3_ENST00000370839.3_Missense_Mutation_p.E207K|RP5-842K24.2_ENST00000421483.1_RNA|MBNL3_ENST00000370853.3_Missense_Mutation_p.E207K|MBNL3_ENST00000394311.2_Missense_Mutation_p.E111K	p.E157K	NM_001170702.1	NP_001164173.1	Q9NUK0	MBNL3_HUMAN			4	534	-	Acute lymphoblastic leukemia(192;0.000127)		207			Pro-rich.		Q5JXN8|Q5JXN9|Q5JXP4|Q6UDQ1|Q8IUR4|Q8TAD9|Q8TAF4|Q9H0Z7|Q9UF37	Missense_Mutation	SNP	ENST00000370853.3	37	c.469G>A	CCDS14633.1	.	.	.	.	.	.	.	.	.	.	C	35	5.499714	0.96355	.	.	ENSG00000076770	ENST00000394311;ENST00000538204;ENST00000370857;ENST00000370853;ENST00000370849;ENST00000370839;ENST00000370844;ENST00000436215;ENST00000421707	T;T;T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.85	5.85	0.93711	.	0.134035	0.51477	D	0.000100	T	0.47525	0.1450	L	0.48642	1.525	0.58432	D	0.999998	P;P;P;P;P	0.48911	0.481;0.917;0.855;0.855;0.692	B;B;B;P;B	0.47134	0.268;0.442;0.442;0.539;0.268	T	0.41142	-0.9525	10	0.48119	T	0.1	-8.2931	19.0362	0.92980	0.0:1.0:0.0:0.0	.	157;207;207;157;111	Q9NUK0-4;Q9NUK0;Q9NUK0-2;Q9NUK0-3;Q8IUR4	.;MBNL3_HUMAN;.;.;.	K	111;157;207;207;157;207;111;111;111	ENSP00000377848:E111K;ENSP00000439618:E157K;ENSP00000359894:E207K;ENSP00000359890:E207K;ENSP00000359886:E157K;ENSP00000359876:E207K;ENSP00000359881:E111K;ENSP00000406014:E111K;ENSP00000402128:E111K	ENSP00000359876:E207K	E	-	1	0	MBNL3	131352708	1.000000	0.71417	0.985000	0.45067	0.934000	0.57294	7.776000	0.85560	2.445000	0.82738	0.513000	0.50165	GAA		0.468	MBNL3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058319.1	NM_018388		4	88	0	0	0	1	0	4	88					T	131525027	C	T	131525027	3	4	325	1	0	0	0	0	1	0	0	0	9355	835	29	2	526	2	MBNL3	23	131525027	Missense_Mutation	SNP	C	TCGA-EM-A3FO-01A-11D-A21A-08	64759784	131525027	23745533	23	6891											
GNG5	2787	broad.mit.edu	37	chr1	84967626	84967626	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcattctgcagacagaactGtttcaagtctgcagctgcct	9	11	3	2			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr1:84967626G>A	ENST00000370641.3	-	2	582	c.109C>T	c.(109-111)Cag>Tag	p.Q37*	GNG5_ENST00000370645.4_Nonsense_Mutation_p.Q37*|GNG5_ENST00000487806.1_5'UTR			P63218	GBG5_HUMAN	guanine nucleotide binding protein (G protein), gamma 5	37					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|PDZ domain binding (GO:0030165)|signal transducer activity (GO:0004871)			lung(1)|skin(1)	2				all cancers(265;0.00634)|Epithelial(280;0.0175)|OV - Ovarian serous cystadenocarcinoma(397;0.159)		AGACAGAACTGTTTCAAGTCT	0.438																																						ENST00000370641.3																			0				lung(1)|skin(1)	2						c.(109-111)Cag>Tag		guanine nucleotide binding protein (G protein), gamma 5							44	49	47					1																	84967626		2203	4300	6503	SO:0001587	stop_gained	2787				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity	g.chr1:84967626G>A	AF038955	CCDS696.1	1p22	2014-05-14			ENSG00000174021	ENSG00000174021			4408	protein-coding gene	gene with protein product		600874				7606925	Standard	NM_005274		Approved		uc001djw.4	P63218	OTTHUMG00000009858	ENST00000370641.3:c.109C>T	1.37:g.84967626G>A	ENSP00000359675:p.Gln37*					GNG5_ENST00000487806.1_5'UTR|GNG5_ENST00000370645.4_Nonsense_Mutation_p.Q37*	p.Q37*			P63218	GBG5_HUMAN		all cancers(265;0.00634)|Epithelial(280;0.0175)|OV - Ovarian serous cystadenocarcinoma(397;0.159)	2	582	-			37					B2R5A0|P30670|Q5VX54|Q61015	Nonsense_Mutation	SNP	ENST00000370641.3	37	c.109C>T	CCDS696.1	.	.	.	.	.	.	.	.	.	.	G	40	7.971623	0.98588	.	.	ENSG00000174021	ENST00000370645;ENST00000370641	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	20.0572	0.97657	0.0:0.0:1.0:0.0	.	.	.	.	X	37	.	ENSP00000359675:Q37X	Q	-	1	0	GNG5	84740214	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	6.174000	0.71943	2.826000	0.97356	0.655000	0.94253	CAG		0.438	GNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027240.1	NM_005274		14	34	0	0	0	1	0	14	34					A	84967626	G	A	84967626	4	1	326	1	0	0	0	0	0	1	0	0	6530	1386	48	2	101	2	GNG5	1	84967626	Nonsense_Mutation	SNP	G	TCGA-EM-A3FP-01A-11D-A21A-08		84967626	164282995	1	6892											
RPIA	22934	broad.mit.edu	37	chr2	89035224	89035224	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagattgtggctggctatgCtagtcgcttcatcgtgatcg	13	8	1	2			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr2:89035224C>A	ENST00000283646.4	+	6	621	c.566C>A	c.(565-567)gCt>gAt	p.A189D		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	189					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|ribose phosphate metabolic process (GO:0019693)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	monosaccharide binding (GO:0048029)|ribose-5-phosphate isomerase activity (GO:0004751)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				GCTGGCTATGCTAGTCGCTTC	0.493																																						ENST00000283646.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						c.(565-567)gCt>gAt		ribose 5-phosphate isomerase A							199	194	195					2																	89035224		1976	4165	6141	SO:0001583	missense	22934				pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity	g.chr2:89035224C>A	L35035	CCDS2004.2	2p11.2	2008-07-31	2008-07-31		ENSG00000153574	ENSG00000153574	5.3.1.6		10297	protein-coding gene	gene with protein product	"ribose 5-phosphate epimerase"	180430				7758956	Standard	NM_144563		Approved		uc002ste.3	P49247	OTTHUMG00000130333	ENST00000283646.4:c.566C>A	2.37:g.89035224C>A	ENSP00000283646:p.Ala189Asp						p.A189D	NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN			6	621	+		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)	189					Q541P9|Q96BJ6	Missense_Mutation	SNP	ENST00000283646.4	37	c.566C>A	CCDS2004.2	.	.	.	.	.	.	.	.	.	.	C	32	5.140484	0.94560	.	.	ENSG00000153574	ENST00000283646;ENST00000543560	D	0.85484	-1.99	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.94525	0.8237	M	0.92649	3.33	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.95153	0.8274	10	0.87932	D	0	-19.387	19.635	0.95728	0.0:1.0:0.0:0.0	.	189	P49247	RPIA_HUMAN	D	189;55	ENSP00000283646:A189D	ENSP00000283646:A189D	A	+	2	0	RPIA	88816339	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	6.828000	0.75308	2.733000	0.93635	0.655000	0.94253	GCT		0.493	RPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252683.2			4	174	1	0	1	1	1	4	174					A	89035224	C	A	89035224	3	1	326	1	0	0	0	0	1	0	0	0	13553	797	28	4	588	4	RPIA	2	89035224	Missense_Mutation	SNP	C	TCGA-EM-A3FP-01A-11D-A21A-08		89035224	154164149	2	6893											
PMS1	5378	broad.mit.edu	37	chr2	190732589	190732589	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagatgaccaaagatacAgtggatcaacttacctgtct	8	10	2	3			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr2:190732589A>G	ENST00000441310.2	+	11	2640	c.2407A>G	c.(2407-2409)Agt>Ggt	p.S803G	PMS1_ENST00000418224.3_Missense_Mutation_p.S627G|PMS1_ENST00000447232.2_Missense_Mutation_p.S641G|PMS1_ENST00000432292.3_Missense_Mutation_p.S627G|PMS1_ENST00000409823.3_Missense_Mutation_p.S764G	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	803					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			CCAAAGATACAGTGGATCAAC	0.323			"Mis, N"			"colorectal, endometrial, ovarian"		Direct reversal of damage;Mismatch excision repair (MMR)																														ENST00000441310.2			yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	"Mis, N"	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)			E		"colorectal, endometrial, ovarian"			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2407-2409)Agt>Ggt	Direct reversal of damage;Mismatch excision repair (MMR)	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)							118	116	117					2																	190732589		2203	4300	6503	SO:0001583	missense	0				mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	g.chr2:190732589A>G		CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"postmeiotic segregation increased (S. cerevisiae) 1"	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.2407A>G	2.37:g.190732589A>G	ENSP00000406490:p.Ser803Gly					PMS1_ENST00000432292.3_Missense_Mutation_p.S627G|PMS1_ENST00000409823.3_Missense_Mutation_p.S764G|PMS1_ENST00000418224.3_Missense_Mutation_p.S627G|PMS1_ENST00000447232.2_Missense_Mutation_p.S641G	p.S803G	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		11	2640	+			803					D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	ENST00000441310.2	37	c.2407A>G	CCDS2302.1	.	.	.	.	.	.	.	.	.	.	A	11.39	1.625025	0.28889	.	.	ENSG00000064933	ENST00000441310;ENST00000418224;ENST00000409823;ENST00000447232;ENST00000432292;ENST00000409593;ENST00000452382	T;T;T;D;T;D;T	0.96745	1.76;1.76;1.76;-2.94;1.76;-4.11;1.76	5.41	-1.06	0.10002	.	0.403818	0.30401	N	0.009706	D	0.91912	0.7439	M	0.64997	1.995	0.09310	N	0.999998	B;B;B;B	0.31769	0.092;0.339;0.001;0.224	B;B;B;B	0.27500	0.02;0.08;0.002;0.08	T	0.82499	-0.0427	10	0.21540	T	0.41	-1.3414	6.3741	0.21497	0.4353:0.2318:0.3329:0.0	.	426;764;641;803	Q5FBZ6;Q5FBZ3;Q5FBZ8;P54277	.;.;.;PMS1_HUMAN	G	803;627;764;641;627;426;191	ENSP00000406490:S803G;ENSP00000404492:S627G;ENSP00000387125:S764G;ENSP00000401064:S641G;ENSP00000398378:S627G;ENSP00000387169:S426G;ENSP00000396232:S191G	ENSP00000387169:S426G	S	+	1	0	PMS1	190440834	0.036000	0.19791	0.035000	0.18076	0.738000	0.42128	0.533000	0.23082	-0.181000	0.10619	0.477000	0.44152	AGT		0.323	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2			16	30	0	0	0	1	0	16	30					G	190732589	A	G	190732589	3	3	326	1	0	0	0	0	1	0	0	0	12142	188	7	3	2445	3	PMS1	2	190732589	Missense_Mutation	SNP	A	TCGA-EM-A3FP-01A-11D-A21A-08	101697365	190732589	52466784	3	6894											
MOBKL3	25843	broad.mit.edu	37	chr2	198413081	198413081	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgctatagactatactAgacacacacttgatggtgct	8	10	0	3			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr2:198413081A>G	ENST00000323303.4	+	6	631	c.376A>G	c.(376-378)Aga>Gga	p.R126G	MOB4_ENST00000497443.1_Intron|HSPE1-MOB4_ENST00000604458.1_Missense_Mutation_p.R162G|MOB4_ENST00000448447.2_Missense_Mutation_p.R105G|MOB4_ENST00000409360.1_Missense_Mutation_p.R94G|MOB4_ENST00000233892.4_Missense_Mutation_p.R94G|MOB4_ENST00000409916.1_Missense_Mutation_p.R27G	NM_001202485.1|NM_015387.4	NP_001189414.1|NP_056202.2	Q9Y3A3	PHOCN_HUMAN	MOB family member 4, phocein	126					transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	metal ion binding (GO:0046872)										AGACTATACTAGACACACACT	0.323																																						ENST00000323303.4																			0											c.(376-378)Aga>Gga		MOB family member 4, phocein							85	84	84					2																	198413081		2203	4300	6503	SO:0001583	missense	25843							g.chr2:198413081A>G	AF151853	CCDS2321.1, CCDS2322.1, CCDS46480.1	2q33.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000115540	ENSG00000115540		"MOB kinase activators"	17261	protein-coding gene	gene with protein product	"phocein", "phocein, Mob-like protein"	609361	"preimplantation protein 3", "MOB1, Mps One Binder kinase activator-like 3 (yeast)"	PREI3, MOBKL3		17853115, 10810093, 11230166, 11319234	Standard	NM_199482		Approved	MOB3, DKFZP564M112, CGI-95, 2C4D, PHOCN		Q9Y3A3	OTTHUMG00000132748	ENST00000323303.4:c.376A>G	2.37:g.198413081A>G	ENSP00000315702:p.Arg126Gly					MOB4_ENST00000448447.2_Missense_Mutation_p.R105G|MOB4_ENST00000409916.1_Missense_Mutation_p.R27G|MOB4_ENST00000409360.1_Missense_Mutation_p.R94G|MOB4_ENST00000233892.4_Missense_Mutation_p.R94G|MOB4_ENST00000604458.1_Missense_Mutation_p.R162G|MOB4_ENST00000497443.1_Intron	p.R126G	NM_001202485.1|NM_015387.4	NP_001189414.1|NP_056202.2					6	631	+								B4DML0|Q53SE0|Q7Z4Y6|Q9H2P3|Q9H5J1|Q9Y4T8	Missense_Mutation	SNP	ENST00000323303.4	37	c.376A>G	CCDS2321.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.195283	0.78902	.	.	ENSG00000115540	ENST00000233892;ENST00000409916;ENST00000323303;ENST00000448447;ENST00000409360	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.72112	0.3420	M	0.87547	2.89	0.80722	D	1	P;P	0.41673	0.716;0.759	B;P	0.46585	0.386;0.521	T	0.72557	-0.4257	9	0.21540	T	0.41	.	15.3602	0.74469	1.0:0.0:0.0:0.0	.	105;126	Q9Y3A3-3;Q9Y3A3	.;PHOCN_HUMAN	G	94;27;126;105;94	.	ENSP00000233892:R94G	R	+	1	2	PHOCN	198121326	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.916000	0.75776	2.083000	0.62718	0.455000	0.32223	AGA		0.323	MOB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256110.4	NM_015387		10	57	0	0	0	1	0	10	57					G	198413081	A	G	198413081	3	3	326	1	0	0	0	0	1	0	0	0	9687	412	15	3	398	3	MOBKL3	2	198413081	Missense_Mutation	SNP	A	TCGA-EM-A3FP-01A-11D-A21A-08	7680492	198413081	44786292	4	6895											
HGD	3081	broad.mit.edu	37	chr3	120389285	120389285	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccaggttacctggttaggatCaggatcaacttcatcccagt	9	11	3	0			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr3:120389285C>G	ENST00000283871.5	-	4	730	c.271G>C	c.(271-273)Gat>Cat	p.D91H	HGD_ENST00000488183.1_5'UTR	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	91					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		TGGTTAGGATCAGGATCAACT	0.418																																						ENST00000283871.5																			0				cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25						c.(271-273)Gat>Cat		homogentisate 1,2-dioxygenase							142	138	140					3																	120389285		2203	4296	6499	SO:0001583	missense	3081				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding	g.chr3:120389285C>G		CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"homogentisate oxidase"	607474	"homogentisate 1,2-dioxygenase (homogentisate oxidase)"	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.271G>C	3.37:g.120389285C>G	ENSP00000283871:p.Asp91His					HGD_ENST00000488183.1_5'UTR	p.D91H	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN		GBM - Glioblastoma multiforme(114;0.158)	4	730	-			91					A8K417|B2R8Z0	Missense_Mutation	SNP	ENST00000283871.5	37	c.271G>C	CCDS3000.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703103	0.88924	.	.	ENSG00000113924	ENST00000283871;ENST00000476082	D;D	0.98968	-5.28;-5.28	6.06	6.06	0.98353	Cupin, RmlC-type (1);	0.000000	0.85682	D	0.000000	D	0.98698	0.9563	M	0.67953	2.075	0.80722	D	1	P	0.45176	0.852	P	0.55222	0.771	D	0.99331	1.0909	10	0.62326	D	0.03	-10.1386	18.1221	0.89574	0.0:1.0:0.0:0.0	.	91	Q93099	HGD_HUMAN	H	91;50	ENSP00000283871:D91H;ENSP00000419560:D50H	ENSP00000283871:D91H	D	-	1	0	HGD	121871975	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.498000	0.73679	2.871000	0.98454	0.655000	0.94253	GAT		0.418	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1			26	72	0	0	0	1	0	26	72					G	120389285	C	G	120389285	3	3	326	1	0	0	0	0	1	0	0	0	7084	826	29	4	1110	4	HGD	3	120389285	Missense_Mutation	SNP	C	TCGA-EM-A3FP-01A-11D-A21A-08		120389285	77633145	5	6896											
EGFL8	80864	broad.mit.edu	37	chr6	32135285	32135285	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcttcctttctagtgggcCggtcaggctggggcctgggt	15	11	3	0	rs146401113		TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr6:32135285C>T	ENST00000395512.1	+	8	792	c.687C>T	c.(685-687)gcC>gcT	p.A229A	EGFL8_ENST00000333845.6_Silent_p.A229A|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000490711.1_5'Flank			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	229						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						TCTAGTGGGCCGGTCAGGCTG	0.677													C|||	1	0.000199681	8e-04	0	5008	,	,		16238	0		0	False		,,,				2504	0					ENST00000395512.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						c.(685-687)gcC>gcT		EGF-like-domain, multiple 8		C		2,3016		0,2,1507	59	68	65		687	-11.2	0.0	6	dbSNP_134	65	0,5418		0,0,2709	no	coding-synonymous	EGFL8	NM_030652.3		0,2,4216	TT,TC,CC		0.0,0.0663,0.0237		229/294	32135285	2,8434	1509	2709	4218	SO:0001819	synonymous_variant	80864					extracellular region|integral to membrane	calcium ion binding	g.chr6:32135285C>T	U89336	CCDS4743.1	6p21	2010-06-25	2003-05-21	2003-05-23	ENSG00000241404	ENSG00000241404			13944	protein-coding gene	gene with protein product		609897	"chromosome 6 open reading frame 8"	C6orf8			Standard	NM_030652		Approved	NG3		Q99944	OTTHUMG00000031222	ENST00000395512.1:c.687C>T	6.37:g.32135285C>T						PPT2-EGFL8_ENST00000422437.1_3'UTR|EGFL8_ENST00000333845.6_Silent_p.A229A	p.A229A			Q99944	EGFL8_HUMAN			8	792	+			229					B0S884|G5E9Q0|Q5JP23|Q5SSX3|Q8IV30	Silent	SNP	ENST00000395512.1	37	c.687C>T	CCDS4743.1																																																																																				0.677	EGFL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076463.3	NM_030652		26	48	0	0	0	1	0	26	48					T	32135285	C	T	32135285	2	4	326	1	0	0	0	0	0	0	0	1	4965	639	23	1		1	EGFL8	6	32135285	Silent	SNP	C	TCGA-EM-A3FP-01A-11D-A21A-08		32135285	138979782	6	6897											
ZBTB22	9278	broad.mit.edu	37	chr6	33283858	33283858	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtgggtctccggagcccaGccccaggaaccactgccccc	12	18	1	0			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr6:33283858G>T	ENST00000431845.2	-	2	987	c.836C>A	c.(835-837)gCt>gAt	p.A279D	TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000489157.1_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.A279D|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000434618.2_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	279					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)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CCGGAGCCCAGCCCCAGGAAC	0.617																																						ENST00000431845.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						c.(835-837)gCt>gAt		zinc finger and BTB domain containing 22							70	60	63					6																	33283858		2203	4299	6502	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33283858G>T	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13085	protein-coding gene	gene with protein product		611439	"zinc finger protein 297"	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.836C>A	6.37:g.33283858G>T	ENSP00000407545:p.Ala279Asp					ZBTB22_ENST00000418724.1_Missense_Mutation_p.A279D	p.A279D	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN			2	987	-			279					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	c.836C>A	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.607511	0.28623	.	.	ENSG00000236104	ENST00000418724;ENST00000431845	T;T	0.06849	3.25;3.25	4.12	3.24	0.37175	.	0.798338	0.10239	N	0.698680	T	0.02267	0.0070	L	0.29908	0.895	0.24621	N	0.993678	B	0.17667	0.023	B	0.15870	0.014	T	0.44283	-0.9338	10	0.34782	T	0.22	.	9.7324	0.40370	0.0:0.2107:0.7893:0.0	.	279	O15209	ZBT22_HUMAN	D	279	ENSP00000404403:A279D;ENSP00000407545:A279D	ENSP00000404403:A279D	A	-	2	0	ZBTB22	33391836	0.892000	0.30473	0.997000	0.53966	0.579000	0.36224	3.792000	0.55476	0.933000	0.37291	0.448000	0.29417	GCT		0.617	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			24	59	1	0	3.73148e-12	1	4.02999e-12	24	59					T	33283858	G	T	33283858	3	4	326	1	0	0	0	0	1	0	0	0	17527	971	34	4	1072	4	ZBTB22	6	33283858	Missense_Mutation	SNP	G	TCGA-EM-A3FP-01A-11D-A21A-08	1148573	33283858	137831209	7	6898											
INTS1	26173	broad.mit.edu	37	chr7	1516466	1516466	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgcccagcaggactcggatgCactggtgcagtgtgggccag	16	11	0	0			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr7:1516466C>G	ENST00000404767.3	-	36	5112	c.5027G>C	c.(5026-5028)tGc>tCc	p.C1676S	INTS1_ENST00000389470.4_Missense_Mutation_p.C1875S	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1676					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GACTCGGATGCACTGGTGCAG	0.652																																						ENST00000389470.4																			0				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62						c.(5623-5625)tGc>tCc		integrator complex subunit 1							61	74	70					7																	1516466		2082	4203	6285	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1516466C>G	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.5027G>C	7.37:g.1516466C>G	ENSP00000385722:p.Cys1676Ser					INTS1_ENST00000404767.3_Missense_Mutation_p.C1676S	p.C1875S			Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	37	5623	-		Ovarian(82;0.0253)	1676			Poly-Leu.		A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.5624G>C	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.319813	0.60634	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.64803	-0.12;-0.12	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.65616	0.2708	L	0.60455	1.87	0.47441	D	0.999426	P	0.36183	0.542	B	0.41202	0.35	T	0.67352	-0.5692	10	0.48119	T	0.1	.	18.5081	0.90905	0.0:1.0:0.0:0.0	.	1676	Q8N201	INT1_HUMAN	S	1676;1875	ENSP00000385722:C1676S;ENSP00000374121:C1875S	ENSP00000374121:C1875S	C	-	2	0	INTS1	1482992	1.000000	0.71417	0.798000	0.32154	0.450000	0.32258	4.713000	0.61895	2.392000	0.81423	0.561000	0.74099	TGC		0.652	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			13	27	0	0	0	1	0	13	27					G	1516466	C	G	1516466	3	3	326	1	0	0	0	0	1	0	0	0	7775	710	25	4	1597	4	INTS1	7	1516466	Missense_Mutation	SNP	C	TCGA-EM-A3FP-01A-11D-A21A-08		1516466	157622197	8	6899											
TBL2	26608	broad.mit.edu	37	chr7	72992835	72992835	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcagggccagcagcccaagCaacaccgacagccccatgag	10	16	1	1			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr7:72992835C>A	ENST00000305632.5	-	1	286	c.45G>T	c.(43-45)ttG>ttT	p.L15F	TBL2_ENST00000459913.1_5'Flank|TBL2_ENST00000432538.1_5'Flank|TBL2_ENST00000452475.1_Missense_Mutation_p.L15F	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	15							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCAGCCCAAGCAACACCGACA	0.711																																						ENST00000305632.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19						c.(43-45)ttG>ttT		transducin (beta)-like 2							15	15	15					7																	72992835		2195	4291	6486	SO:0001583	missense	26608							g.chr7:72992835C>A	AF056183	CCDS5551.1	7q11.23	2013-01-10			ENSG00000106638	ENSG00000106638		"WD repeat domain containing"	11586	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 13"	605842				9860302, 10575226	Standard	XM_006715923		Approved	WS-betaTRP, WBSCR13, DKFZP43N024	uc003tyh.3	Q9Y4P3	OTTHUMG00000023427	ENST00000305632.5:c.45G>T	7.37:g.72992835C>A	ENSP00000307260:p.Leu15Phe					TBL2_ENST00000452475.1_Missense_Mutation_p.L15F	p.L15F	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN			1	286	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	15					Q9UQE2	Missense_Mutation	SNP	ENST00000305632.5	37	c.45G>T	CCDS5551.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345674	0.82022	.	.	ENSG00000106638	ENST00000305632;ENST00000541783;ENST00000452475	T;T	0.71461	0.07;-0.57	5.5	4.6	0.57074	.	0.000000	0.64402	D	0.000001	T	0.63908	0.2551	L	0.55481	1.735	0.46222	D	0.998937	B	0.14805	0.011	B	0.12837	0.008	T	0.58640	-0.7601	10	0.26408	T	0.33	-7.6921	11.6212	0.51119	0.1779:0.8221:0.0:0.0	.	15	Q9Y4P3	TBL2_HUMAN	F	15	ENSP00000307260:L15F;ENSP00000407371:L15F	ENSP00000307260:L15F	L	-	3	2	TBL2	72630771	0.233000	0.23772	0.997000	0.53966	0.968000	0.65278	0.293000	0.19029	1.306000	0.44926	0.555000	0.69702	TTG		0.711	TBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252233.3	NM_012453		7	14	1	0	3.09899e-07	1	3.21818e-07	7	14					A	72992835	C	A	72992835	3	1	326	1	0	0	0	0	1	0	0	0	15639	709	25	4	1326	4	TBL2	7	72992835	Missense_Mutation	SNP	C	TCGA-EM-A3FP-01A-11D-A21A-08	71476369	72992835	86145828	9	6900											
EPPK1	83481	broad.mit.edu	37	chr8	144941609	144941609	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggggtccaggaggaacCcggtggcggcctgcgcctcc	17	14	0	0			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr8:144941609C>T	ENST00000525985.1	-	2	5884	c.5813G>A	c.(5812-5814)gGg>gAg	p.G1938E				P58107	EPIPL_HUMAN	epiplakin 1	1938						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGGAGGAACCCGGTGGCGGC	0.652																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(5812-5814)gGg>gAg		epiplakin 1							33	41	38					8																	144941609		2011	4157	6168	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144941609C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.5813G>A	8.37:g.144941609C>T	ENSP00000436337:p.Gly1938Glu						p.G1938E			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	5884	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1938					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.5813G>A		.	.	.	.	.	.	.	.	.	.	C	18.40	3.616448	0.66672	.	.	ENSG00000227184	ENST00000525985	D	0.87179	-2.22	4.73	4.73	0.59995	.	.	.	.	.	D	0.93739	0.7999	M	0.85041	2.73	0.47341	D	0.999398	D	0.89917	1.0	D	0.97110	1.0	D	0.94590	0.7787	9	0.87932	D	0	.	15.2258	0.73352	0.0:1.0:0.0:0.0	.	1938	E9PPU0	.	E	1938	ENSP00000436337:G1938E	ENSP00000436337:G1938E	G	-	2	0	EPPK1	145013597	1.000000	0.71417	0.812000	0.32479	0.029000	0.11900	7.523000	0.81856	2.459000	0.83118	0.585000	0.79938	GGG		0.652	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		4	52	0	0	0	1	0	4	52					T	144941609	C	T	144941609	3	4	326	1	0	0	0	0	1	0	0	0	5190	623	22	2	1453	2	EPPK1	8	144941609	Missense_Mutation	SNP	C	TCGA-EM-A3FP-01A-11D-A21A-08		144941609	1422413	10	6901											
LMX1B	4010	broad.mit.edu	37	chr9	129456049	129456051	+	In_Frame_Del	DEL	CAG	CAG	-													agaagctggcgcggcggcacCagcagcagcaggagcagcag							TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr9:129456049_129456051delCAG	ENST00000373474.4	+	6	851_853	c.844_846delCAG	c.(844-846)cagdel	p.Q285del	LMX1B_ENST00000355497.5_In_Frame_Del_p.Q285del|LMX1B_ENST00000425646.2_In_Frame_Del_p.Q262del|LMX1B_ENST00000561065.1_In_Frame_Del_p.Q262del|LMX1B_ENST00000526117.1_In_Frame_Del_p.Q285del			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	285	Poly-Gln.				cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						GCGGCGGCACCAGCAGCAGCAGG	0.754									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)	ENST00000355497.5																			0				endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						c.(844-846)del		LIM homeobox transcription factor 1, beta																																				SO:0001651	inframe_deletion	4010	Nail-Patella Syndrome	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:129456049_129456051delCAG	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"Homeoboxes / LIM class"	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.844_846delCAG	9.37:g.129456058_129456060delCAG	ENSP00000362573:p.Gln285del					LMX1B_ENST00000561065.1_In_Frame_Del_p.Q262del|LMX1B_ENST00000526117.1_In_Frame_Del_p.Q285del|LMX1B_ENST00000373474.4_In_Frame_Del_p.Q285del|LMX1B_ENST00000425646.2_In_Frame_Del_p.Q262del	p.Q285del	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN			6	851_853	+			262					F8W7W6|O75463|Q5JU95|Q6ISC9	In_Frame_Del	DEL	ENST00000373474.4	37	c.844_846delCAG	CCDS55342.1																																																																																				0.754	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2			2	4						2	4	---	---	---	---	-	129456051	CAG	-	129456049	7	5	326	1	0	1	0	1	0	0	0	0	8862	595	21	0	866	0	LMX1B	9	129456049	In_Frame_Del	DEL	CAG	TCGA-EM-A3FP-01A-11D-A21A-08		129456049	11757382	11	6902											
SMC3	9126	broad.mit.edu	37	chr10	112335096	112335096	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttttgtatttccagcaAttcagtttgttctcagtgat	7	6	2	1			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr10:112335096A>G	ENST00000361804.4	+	4	259	c.133A>G	c.(133-135)Att>Gtt	p.I45V	SMC3_ENST00000462899.1_3'UTR|snoU13_ENST00000458966.1_RNA	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	45					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		ATTTCCAGCAATTCAGTTTGT	0.338																																						ENST00000361804.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(133-135)Att>Gtt		structural maintenance of chromosomes 3							136	129	131					10																	112335096		2203	4300	6503	SO:0001583	missense	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112335096A>G	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"Structural maintenance of chromosomes proteins", "Proteoglycans / Extracellular Matrix : Other"	2468	protein-coding gene	gene with protein product	"bamacan proteoglycan"	606062	"chondroitin sulfate proteoglycan 6 (bamacan)"	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.133A>G	10.37:g.112335096A>G	ENSP00000354720:p.Ile45Val					SMC3_ENST00000462899.1_3'UTR	p.I45V	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	4	259	+		Breast(234;0.0848)|Lung NSC(174;0.238)	45					A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	c.133A>G	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.456895	0.84317	.	.	ENSG00000108055	ENST00000361804	D	0.93307	-3.2	5.49	5.49	0.81192	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.94775	0.8313	M	0.67953	2.075	0.80722	D	1	D	0.63880	0.993	P	0.56343	0.796	D	0.93441	0.6794	10	0.25751	T	0.34	.	15.8835	0.79222	1.0:0.0:0.0:0.0	.	45	Q9UQE7	SMC3_HUMAN	V	45	ENSP00000354720:I45V	ENSP00000354720:I45V	I	+	1	0	SMC3	112325086	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.818000	0.91991	2.212000	0.71576	0.460000	0.39030	ATT		0.338	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		17	26	0	0	0	1	0	17	26					G	112335096	A	G	112335096	3	3	326	1	0	0	0	0	1	0	0	0	14784	101	4	3	147	3	SMC3	10	112335096	Missense_Mutation	SNP	A	TCGA-EM-A3FP-01A-11D-A21A-08		112335096	23199651	12	6903											
OR52R1	119695	broad.mit.edu	37	chr11	4825377	4825377	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacatcttaggttgagtggaGgaggagaggaccaggtcagt	16	5	2	2			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr11:4825377G>A	ENST00000356069.2	-	1	233	c.234C>T	c.(232-234)tcC>tcT	p.S78S	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000380382.1_Silent_p.S157S	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	78						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(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTGAGTGGAGGAGGAGAGGA	0.488																																						ENST00000380382.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29						c.(469-471)tcC>tcT		olfactory receptor, family 52, subfamily R, member 1							123	108	113					11																	4825377		2201	4298	6499	SO:0001819	synonymous_variant	119695				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4825377G>A	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"GPCR / Class A : Olfactory receptors"	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.234C>T	11.37:g.4825377G>A						OR52R1_ENST00000356069.2_Silent_p.S78S|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.S157S			Q8NGF1	O52R1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	470	-		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)	78					Q6IFI0	Silent	SNP	ENST00000356069.2	37	c.471C>T	CCDS31360.2																																																																																				0.488	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177		3	56	0	0	0	1	0	3	56					A	4825377	G	A	4825377	2	1	326	1	0	0	0	0	0	0	0	1	11131	987	35	2		2	OR52R1	11	4825377	Silent	SNP	G	TCGA-EM-A3FP-01A-11D-A21A-08		4825377	130181139	13	6904											
SOX21	11166	broad.mit.edu	37	chr13	95363824	95363824	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgcggcggcggcggcggcGgcagcggcggcggcagcggc	23	16	0	0			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr13:95363824G>A	ENST00000376945.2	-	1	565	c.480C>T	c.(478-480)gcC>gcT	p.A160A	SOX21-AS1_ENST00000438290.2_lincRNA	NM_007084.2	NP_009015.1	Q9Y651	SOX21_HUMAN	SRY (sex determining region Y)-box 21	160					hair follicle development (GO:0001942)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6	all_neural(89;0.0646)|Medulloblastoma(90;0.163)					cggcggcggcggcagcggcgg	0.751																																						ENST00000376945.2																			0				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						c.(478-480)gcC>gcT		SRY (sex determining region Y)-box 21							1	2	2					13																	95363824		761	1593	2354	SO:0001819	synonymous_variant	11166				regulation of transcription from RNA polymerase II promoter|stem cell differentiation	nucleus	DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr13:95363824G>A	AF107044	CCDS9473.1	13q31-q32	2008-07-18			ENSG00000125285	ENSG00000125285		"SRY (sex determining region Y)-boxes"	11197	protein-coding gene	gene with protein product	"SRY-box 21"	604974				10441749	Standard	NM_007084		Approved	SOX25	uc001vma.3	Q9Y651	OTTHUMG00000017209	ENST00000376945.2:c.480C>T	13.37:g.95363824G>A							p.A160A	NM_007084.2	NP_009015.1	Q9Y651	SOX21_HUMAN			1	565	-	all_neural(89;0.0646)|Medulloblastoma(90;0.163)		160					P35715|Q15504|Q5TBS1	Silent	SNP	ENST00000376945.2	37	c.480C>T	CCDS9473.1																																																																																				0.751	SOX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045467.4	NM_007084		2	3	0	0	0	1	0	2	3					A	95363824	G	A	95363824	2	1	326	1	0	0	0	0	0	0	0	1	14950	1103	39	1		1	SOX21	13	95363824	Silent	SNP	G	TCGA-EM-A3FP-01A-11D-A21A-08		95363824	19806054	14	6905											
COL4A2	1284	broad.mit.edu	37	chr13	111099179	111099179	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagggccccctggactacCtgcctactcccctcaccctt	6	22	1	0			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr13:111099179C>T	ENST00000360467.5	+	18	1352	c.1046C>T	c.(1045-1047)cCt>cTt	p.P349L		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	349	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCTGGACTACCTGCCTACTCC	0.483																																						ENST00000360467.5																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(1045-1047)cCt>cTt		collagen, type IV, alpha 2							120	127	125					13																	111099179		1869	4100	5969	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111099179C>T	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1046C>T	13.37:g.111099179C>T	ENSP00000353654:p.Pro349Leu						p.P349L	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		18	1352	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	349			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.1046C>T	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	C	2.456	-0.325323	0.05350	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.96885	-4.16	4.95	3.21	0.36854	.	0.268126	0.26514	N	0.023948	D	0.94052	0.8094	M	0.78637	2.42	0.09310	N	1	B	0.06786	0.001	B	0.14023	0.01	D	0.84626	0.0687	10	0.23302	T	0.38	.	6.5958	0.22672	0.0:0.7888:0.0:0.2112	.	349	P08572	CO4A2_HUMAN	L	349	ENSP00000353654:P349L	ENSP00000257309:P349L	P	+	2	0	COL4A2	109897180	0.008000	0.16893	0.067000	0.19924	0.370000	0.29829	1.309000	0.33539	1.086000	0.41228	0.462000	0.41574	CCT		0.483	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		5	162	0	0	0	1	0	5	162					T	111099179	C	T	111099179	3	4	326	1	0	0	0	0	1	0	0	0	3690	681	24	2	1112	2	COL4A2	13	111099179	Missense_Mutation	SNP	C	TCGA-EM-A3FP-01A-11D-A21A-08	15735355	111099179	4070699	15	6906											
YLPM1	56252	broad.mit.edu	37	chr14	75230940	75230940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactactagctccaccaccaCcgtccgccccccctggaaat	5	20	0	0			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr14:75230940C>T	ENST00000552421.1	+	1	872	c.748C>T	c.(748-750)Ccg>Tcg	p.P250S	YLPM1_ENST00000325680.7_Missense_Mutation_p.P250S|YLPM1_ENST00000238571.3_Missense_Mutation_p.P250S			P49750	YLPM1_HUMAN	YLP motif containing 1	250					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TCCACCACCACCGTCCGCCCC	0.567																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(748-750)Ccg>Tcg		YLP motif containing 1							73	76	75					14																	75230940		1898	4119	6017	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75230940C>T	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 169"		"chromosome 14 open reading frame 170"	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.748C>T	14.37:g.75230940C>T	ENSP00000447921:p.Pro250Ser					YLPM1_ENST00000552421.1_Missense_Mutation_p.P250S|YLPM1_ENST00000238571.3_Missense_Mutation_p.P250S	p.P250S	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	1	872	+			90					P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37	c.748C>T		.	.	.	.	.	.	.	.	.	.	C	0.038	-1.296040	0.01375	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571	T;T;T	0.20881	2.04;2.04;2.04	3.98	1.16	0.20824	.	0.653027	0.13367	N	0.393218	T	0.08044	0.0201	N	0.03608	-0.345	0.09310	N	0.999997	B	0.14012	0.009	B	0.10450	0.005	T	0.35871	-0.9771	10	0.27785	T	0.31	-1.0209	6.0418	0.19738	0.0:0.665:0.0:0.335	.	250	P49750-4	.	S	250	ENSP00000447921:P250S;ENSP00000324463:P250S;ENSP00000238571:P250S	ENSP00000238571:P250S	P	+	1	0	YLPM1	74300693	0.021000	0.18746	0.331000	0.25455	0.002000	0.02628	1.199000	0.32235	0.127000	0.18452	-0.140000	0.14226	CCG		0.567	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		10	39	0	0	0	1	0	10	39					T	75230940	C	T	75230940	3	4	326	1	0	0	0	0	1	0	0	0	17483	507	18	2	750	2	YLPM1	14	75230940	Missense_Mutation	SNP	C	TCGA-EM-A3FP-01A-11D-A21A-08		75230940	32118600	16	6907											
TJP1	7082	broad.mit.edu	37	chr15	30012630	30012630	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtggctgcgcttgtggtgAgtaaggaggatatgtttggt	17	3	0	1			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr15:30012630A>C	ENST00000346128.6	-	19	3169	c.2695T>G	c.(2695-2697)Tca>Gca	p.S899A	TJP1_ENST00000400011.2_Missense_Mutation_p.S903A|TJP1_ENST00000356107.6_Missense_Mutation_p.S899A|TJP1_ENST00000545208.2_Missense_Mutation_p.S899A	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	899					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GCTTGTGGTGAGTAAGGAGGA	0.483																																					Melanoma(77;681 1843 6309 6570)	ENST00000346128.6																			0				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(2695-2697)Tca>Gca		tight junction protein 1							201	199	200					15																	30012630		1993	4168	6161	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30012630A>C		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"zona occludens 1", "tight junction protein ZO-1"	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.2695T>G	15.37:g.30012630A>C	ENSP00000281537:p.Ser899Ala					TJP1_ENST00000356107.6_Missense_Mutation_p.S899A|TJP1_ENST00000545208.2_Missense_Mutation_p.S899A|TJP1_ENST00000400011.2_Missense_Mutation_p.S903A	p.S899A	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	19	3169	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	899					B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.2695T>G	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	A	8.796	0.931772	0.18131	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T;T	0.05786	3.39;3.49;3.41;3.39	5.93	2.29	0.28610	.	0.270748	0.37577	N	0.002023	T	0.04318	0.0119	L	0.31294	0.92	0.80722	D	1	B;B;B;B	0.12630	0.002;0.006;0.002;0.001	B;B;B;B	0.13407	0.004;0.009;0.002;0.002	T	0.46789	-0.9166	9	.	.	.	.	5.7604	0.18196	0.4541:0.3283:0.2176:0.0	.	892;899;899;903	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	A	899;903;899;899;899	ENSP00000281537:S899A;ENSP00000382890:S903A;ENSP00000441202:S899A;ENSP00000348416:S899A	.	S	-	1	0	TJP1	27799922	1.000000	0.71417	0.994000	0.49952	0.999000	0.98932	2.957000	0.49137	0.134000	0.18681	0.533000	0.62120	TCA		0.483	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		28	78	0	0	0	1	0	28	78					C	30012630	A	C	30012630	3	2	326	1	0	0	0	0	1	0	0	0	15926	304	11	5	2591	5	TJP1	15	30012630	Missense_Mutation	SNP	A	TCGA-EM-A3FP-01A-11D-A21A-08		30012630	72518762	17	6908											
ITGAM	3684	broad.mit.edu	37	chr16	31283280	31283280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aataacgcagctgcttgggcGgacacacacggccacgggca	13	13	0	0			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr16:31283280G>A	ENST00000287497.8	+	7	746	c.671G>A	c.(670-672)cGg>cAg	p.R224Q	ITGAM_ENST00000544665.3_Missense_Mutation_p.R224Q			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	224	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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						CTGCTTGGGCGGACACACACG	0.512																																						ENST00000544665.3																			0				endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(670-672)cGg>cAg		integrin, alpha M (complement component 3 receptor 3 subunit)							94	92	92					16																	31283280		1984	4200	6184	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31283280G>A	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.671G>A	16.37:g.31283280G>A	ENSP00000287497:p.Arg224Gln					ITGAM_ENST00000287497.8_Missense_Mutation_p.R224Q	p.R224Q	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN			7	742	+			224			VWFA.		Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.671G>A	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.971422	0.34754	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	D;D	0.83075	-1.68;-1.68	5.5	-8.27	0.01017	von Willebrand factor, type A (3);	.	.	.	.	T	0.65069	0.2656	L	0.37630	1.12	0.09310	N	1	B;B	0.14438	0.01;0.01	B;B	0.08055	0.003;0.003	T	0.49753	-0.8906	9	0.29301	T	0.29	.	1.3602	0.02190	0.2577:0.3505:0.1255:0.2664	.	224;224	Q4VAK1;P11215	.;ITAM_HUMAN	Q	224	ENSP00000441691:R224Q;ENSP00000287497:R224Q	ENSP00000287497:R224Q	R	+	2	0	ITGAM	31190781	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.499000	0.00968	-1.091000	0.03065	0.561000	0.74099	CGG		0.512	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		4	142	0	0	0	1	0	4	142					A	31283280	G	A	31283280	3	1	326	1	0	0	0	0	1	0	0	0	7887	1116	39	1	697	1	ITGAM	16	31283280	Missense_Mutation	SNP	G	TCGA-EM-A3FP-01A-11D-A21A-08		31283280	59071473	18	6909											
ZNF260	339324	broad.mit.edu	37	chr19	37005674	37005674	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttttctccagtatgaattTtctcatgctcagtgagatat	7	7	3	2			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr19:37005674T>G	ENST00000523638.1	-	3	1588	c.467A>C	c.(466-468)aAa>aCa	p.K156T	ZNF260_ENST00000592282.1_Missense_Mutation_p.K156T|ZNF260_ENST00000588993.1_Missense_Mutation_p.K156T|ZNF260_ENST00000593142.1_Missense_Mutation_p.K156T	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	156					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					AGTATGAATTTTCTCATGCTC	0.398																																						ENST00000523638.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15						c.(466-468)aAa>aCa		zinc finger protein 260							176	181	179					19																	37005674		2203	4300	6503	SO:0001583	missense	339324				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37005674T>G	AK122854	CCDS33003.1	19q13.12	2013-01-08				ENSG00000254004		"Zinc fingers, C2H2-type"	13499	protein-coding gene	gene with protein product		613749					Standard	NM_001166036		Approved	ozrf1, Zfp260	uc002oed.2	Q3ZCT1		ENST00000523638.1:c.467A>C	19.37:g.37005674T>G	ENSP00000429803:p.Lys156Thr					ZNF260_ENST00000592282.1_Missense_Mutation_p.K156T|ZNF260_ENST00000588993.1_Missense_Mutation_p.K156T|ZNF260_ENST00000593142.1_Missense_Mutation_p.K156T	p.K156T	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN			3	1588	-	Esophageal squamous(110;0.162)		156					Q0VF43	Missense_Mutation	SNP	ENST00000523638.1	37	c.467A>C	CCDS33003.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.185476	0.57909	.	.	ENSG00000254004	ENST00000523638	T	0.24908	1.83	4.69	2.59	0.31030	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24198	0.0586	L	0.59967	1.855	0.31539	N	0.660202	B	0.24043	0.096	B	0.21917	0.037	T	0.18587	-1.0332	9	0.62326	D	0.03	.	6.923	0.24399	0.0:0.3601:0.0:0.6399	.	156	Q3ZCT1	ZN260_HUMAN	T	156	ENSP00000429803:K156T	ENSP00000429803:K156T	K	-	2	0	ZNF260	41697514	0.000000	0.05858	0.970000	0.41538	0.994000	0.84299	-1.188000	0.03064	0.378000	0.24764	0.459000	0.35465	AAA		0.398	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109564.2	NM_001012756		38	87	0	0	0	1	0	38	87					G	37005674	T	G	37005674	3	3	326	1	0	0	0	0	1	0	0	0	17799	1841	64	5	775	5	ZNF260	19	37005674	Missense_Mutation	SNP	T	TCGA-EM-A3FP-01A-11D-A21A-08		37005674	22123309	19	6910											
GRIN2D	2906	broad.mit.edu	37	chr19	48946470	48946471	+	Frame_Shift_Ins	INS	-	-	C													ccggccgctccgcccccgtgINSccgcgccgcgccgcccccgt							TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr19:48946470_48946471insC	ENST00000263269.3	+	13	3375_3376	c.3287_3288insC	c.(3286-3291)tgccgcfs	p.R1097fs	GRWD1_ENST00000253237.5_5'Flank	NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	1097				R -> C (in Ref. 1; AAC15910). {ECO:0000305}.	adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ccgcccccgtgccgcgccgcgc	0.817																																						ENST00000263269.3																			0				autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37						c.(3286-3288)tcgfs		glutamate receptor, ionotropic, N-methyl D-aspartate 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)																																			SO:0001589	frameshift_variant	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48946470_48946471insC	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4588	protein-coding gene	gene with protein product	"N-methyl-d-aspartate receptor subunit 2D"	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.3289dupC	19.37:g.48946472_48946472dupC	ENSP00000263269:p.Arg1097fs						p.S1096fs	NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	13	3375_3376	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	1096						Frame_Shift_Ins	INS	ENST00000263269.3	37	c.3287_3288insC	CCDS12719.1																																																																																				0.817	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			2	4						2	4	---	---	---	---	C	48946471	-	C	48946470	7	5	326	1	0	1	1	0	0	0	0	0	6782	1319	46	0	3333	0	GRIN2D	19	48946470	Frame_Shift_Ins	INS	-	TCGA-EM-A3FP-01A-11D-A21A-08	11940796	48946470	10182513	20	6911											
G6PD	2539	broad.mit.edu	37	chrX	153763439	153763439	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acggcctcgtagacggtcggGggcaaggccaggtagaagag	18	9	0	3			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chrX:153763439G>C	ENST00000393564.2	-	5	541	c.429C>G	c.(427-429)ccC>ccG	p.P143P	G6PD_ENST00000369620.2_Silent_p.P143P|G6PD_ENST00000497281.1_5'UTR|G6PD_ENST00000393562.2_Silent_p.P173P	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	143					carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGACGGTCGGGGGCAAGGCCA	0.627																																						ENST00000393562.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18						c.(517-519)ccC>ccG		glucose-6-phosphate dehydrogenase							127	101	110					X																	153763439		2203	4300	6503	SO:0001819	synonymous_variant	2539				cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity	g.chrX:153763439G>C	X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.429C>G	X.37:g.153763439G>C						G6PD_ENST00000369620.2_Silent_p.P143P|G6PD_ENST00000497281.1_5'UTR|G6PD_ENST00000393564.2_Silent_p.P143P	p.P173P	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN			5	902	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		143					D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Silent	SNP	ENST00000393564.2	37	c.519C>G	CCDS44023.1																																																																																				0.627	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061170.3	NM_000402		4	170	0	0	0	1	0	4	170					C	153763439	G	C	153763439	2	2	326	1	0	0	0	0	0	0	0	1	6146	1219	43	4		4	G6PD	23	153763439	Silent	SNP	G	TCGA-EM-A3FP-01A-11D-A21A-08		153763439	1507121	21	6912											
POTEE	445582	broad.mit.edu	37	chr2	131976198	131976198	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttcccctgctgcagggggAgtggcaagagcaacgtgggc	17	11	0	1			TCGA-EM-A3FQ-01A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79133e29-ba0b-4e2f-a6d9-bf294c5144f0	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr2:131976198A>G	ENST00000356920.5	+	1	317	c.223A>G	c.(223-225)Agt>Ggt	p.S75G	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.S75G|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	75					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											CTGCAGGGGGAGTGGCAAGAG	0.587																																						ENST00000356920.5																			0											c.(223-225)Agt>Ggt		POTE ankyrin domain family, member E							127	125	126					2																	131976198		2203	4300	6503	SO:0001583	missense	445582						ATP binding	g.chr2:131976198A>G	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.223A>G	2.37:g.131976198A>G	ENSP00000439189:p.Ser75Gly					PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.S75G|PLEKHB2_ENST00000303908.3_Intron	p.S75G	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN			1	317	+			75					Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.223A>G	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	6.293	0.422244	0.11928	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.79554	-1.28;1.37	.	.	.	.	.	.	.	.	T	0.69584	0.3127	L	0.29908	0.895	0.09310	N	1	B	0.26041	0.14	B	0.32805	0.153	T	0.62006	-0.6945	7	0.87932	D	0	.	.	.	.	.	75	Q6S8J3	POTEE_HUMAN	G	75	ENSP00000439189:S75G;ENSP00000443049:S75G	ENSP00000439189:S75G	S	+	1	0	AC131180.1	131692668	0.046000	0.20272	0.039000	0.18376	0.062000	0.15995	0.170000	0.16663	0.138000	0.18790	0.136000	0.15936	AGT		0.587	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		4	223	0	0	0	0.184627	0	4	223					G	131976198	A	G	131976198	3	3	327	1	0	0	0	0	1	0	0	0	12264	304	11	3	225	3	POTEE	2	131976198	Missense_Mutation	SNP	A	TCGA-EM-A3FQ-01A-11D-A21A-08		131976198	111223175	1	6913											
TANC1	85461	broad.mit.edu	37	chr2	160080795	160080795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagcatgtggaccacagcgGgatgcggcccttggacagag	16	11	0	1			TCGA-EM-A3FQ-01A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79133e29-ba0b-4e2f-a6d9-bf294c5144f0	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr2:160080795G>A	ENST00000263635.6	+	23	3968	c.3731G>A	c.(3730-3732)gGg>gAg	p.G1244E	TANC1_ENST00000454300.1_Missense_Mutation_p.G1138E	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1244					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GACCACAGCGGGATGCGGCCC	0.592																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(3730-3732)gGg>gAg		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							67	75	72					2																	160080795		2117	4236	6353	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160080795G>A	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29364	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.3731G>A	2.37:g.160080795G>A	ENSP00000263635:p.Gly1244Glu					TANC1_ENST00000454300.1_Missense_Mutation_p.G1138E	p.G1244E	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			23	3968	+			1244					C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.3731G>A	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679538	0.88542	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.30714	1.52;1.52	5.17	5.17	0.71159	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.64182	0.2575	M	0.89353	3.025	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.995	D;D;D	0.97110	1.0;1.0;0.951	T	0.72431	-0.4296	10	0.87932	D	0	.	18.6798	0.91543	0.0:0.0:1.0:0.0	.	1236;1138;1244	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	E	1138;1244	ENSP00000396339:G1138E;ENSP00000263635:G1244E	ENSP00000263635:G1244E	G	+	2	0	TANC1	159789041	1.000000	0.71417	0.338000	0.25549	0.703000	0.40648	9.861000	0.99562	2.394000	0.81467	0.563000	0.77884	GGG		0.592	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			3	101	0	0	0	0.115264	0	3	101					A	160080795	G	A	160080795	3	1	327	1	0	0	0	0	1	0	0	0	15541	1232	43	2	3813	2	TANC1	2	160080795	Missense_Mutation	SNP	G	TCGA-EM-A3FQ-01A-11D-A21A-08	28104597	160080795	83118578	2	6914											
ADAMTS2	9509	broad.mit.edu	37	chr5	178553069	178553069	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttcgagagggcggcacagaAgccacggtgtaccatcttgt	13	11	1	2			TCGA-EM-A3FQ-01A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79133e29-ba0b-4e2f-a6d9-bf294c5144f0	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr5:178553069A>T	ENST00000251582.7	-	18	2781	c.2680T>A	c.(2680-2682)Ttc>Atc	p.F894I		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	894	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GCGGCACAGAAGCCACGGTGT	0.652																																						ENST00000251582.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(2680-2682)Ttc>Atc		ADAM metallopeptidase with thrombospondin type 1 motif, 2							86	86	86					5																	178553069		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178553069A>T	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2680T>A	5.37:g.178553069A>T	ENSP00000251582:p.Phe894Ile						p.F894I	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	18	2781	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	894			TSP type-1 2.			Missense_Mutation	SNP	ENST00000251582.7	37	c.2680T>A	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	A	14.65	2.597378	0.46318	.	.	ENSG00000087116	ENST00000251582	T	0.53423	0.62	4.67	3.42	0.39159	.	0.532999	0.17025	N	0.189969	T	0.51534	0.1680	M	0.85373	2.75	0.80722	D	1	P	0.37061	0.58	B	0.36885	0.235	T	0.61869	-0.6974	10	0.72032	D	0.01	.	10.3438	0.43895	0.8535:0.0:0.0:0.1465	.	894	O95450	ATS2_HUMAN	I	894	ENSP00000251582:F894I	ENSP00000251582:F894I	F	-	1	0	ADAMTS2	178485675	0.948000	0.32251	0.955000	0.39395	0.235000	0.25334	4.678000	0.61641	1.869000	0.54173	0.260000	0.18958	TTC		0.652	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		6	217	0	0	0	0.27861	0	6	217					T	178553069	A	T	178553069	3	4	327	1	0	0	0	0	1	0	0	0	265	72	3	5	975	5	ADAMTS2	5	178553069	Missense_Mutation	SNP	A	TCGA-EM-A3FQ-01A-11D-A21A-08		178553069	2362191	3	6915											
RUNX2	860	broad.mit.edu	37	chr6	45390466	45390466	+	Silent	SNP	A	A	G													cagcagcagcagcagcagcaAcagcagcagcagcagcagga					rs575896136	byFrequency	TCGA-EM-A3FQ-01A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79133e29-ba0b-4e2f-a6d9-bf294c5144f0	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													A|||	8	0.00159744	0.0023	0	5008	,	,		7675	0.002		0	False		,,,				2504	0.0031					ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(193-195)caA>caG		runt-related transcription factor 2							10	15	14					6																	45390466		1452	3071	4523	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390466A>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.195A>G	6.37:g.45390466A>G						RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q	p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	553	+			65			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.195A>G	CCDS43467.2																																																																																				0.731	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		3	26	0	0	0	0.150653	0	3	26					G	45390466	A	G	45390466	2	3	327	1	0	0	0	0	0	0	0	1	13748	40	2	3		3	RUNX2	6	45390466	Silent	SNP	A	TCGA-EM-A3FQ-01A-11D-A21A-08		45390466	125724601	4	6916	34	2									
RUNX2	860	broad.mit.edu	37	chr6	45390469	45390469	+	Silent	SNP	G	G	A													cagcagcagcagcagcaacaGcagcagcagcagcaggaggc							TCGA-EM-A3FQ-01A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79133e29-ba0b-4e2f-a6d9-bf294c5144f0	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr6:45390469G>A	ENST00000371438.1	+	2	556	c.198G>A	c.(196-198)caG>caA	p.Q66Q	RUNX2_ENST00000359524.5_Silent_p.Q52Q|RUNX2_ENST00000371432.3_Silent_p.Q52Q|RUNX2_ENST00000352853.5_Silent_p.Q134Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000371436.6_Silent_p.Q66Q|RUNX2_ENST00000465038.2_Silent_p.Q66Q|RUNX2_ENST00000576263.1_Silent_p.Q66Q|RUNX2_ENST00000541979.1_Silent_p.Q134Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	66	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcaacagcagcagcagc	0.731																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(196-198)caG>caA		runt-related transcription factor 2							9	14	13					6																	45390469		1431	3046	4477	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390469G>A	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.198G>A	6.37:g.45390469G>A						RUNX2_ENST00000371432.3_Silent_p.Q52Q|RUNX2_ENST00000576263.1_Silent_p.Q66Q|RUNX2_ENST00000541979.1_Silent_p.Q134Q|RUNX2_ENST00000465038.2_Silent_p.Q66Q|RUNX2_ENST00000371436.6_Silent_p.Q66Q|RUNX2_ENST00000359524.5_Silent_p.Q52Q|RUNX2_ENST00000352853.5_Silent_p.Q134Q	p.Q66Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	556	+			66			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.198G>A	CCDS43467.2																																																																																				0.731	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		3	23	0	0	0	0.150653	0	3	23					A	45390469	G	A	45390469	2	1	327	1	0	0	0	0	0	0	0	1	13748	962	34	2		2	RUNX2	6	45390469	Silent	SNP	G	TCGA-EM-A3FQ-01A-11D-A21A-08	3	45390469	125724598	5	6917	34	2									
NT5E	4907	broad.mit.edu	37	chr6	86195042	86195042	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggttcctgtagtccaggccTatgcttttggcaaataccta	9	10	0	0			TCGA-EM-A3FQ-01A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79133e29-ba0b-4e2f-a6d9-bf294c5144f0	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr6:86195042T>C	ENST00000257770.3	+	4	890	c.841T>C	c.(841-843)Tat>Cat	p.Y281H	NT5E_ENST00000369651.3_Missense_Mutation_p.Y281H	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	281					adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Cytarabine(DB00987)|Pentoxifylline(DB00806)	AGTCCAGGCCTATGCTTTTGG	0.453																																					Melanoma(140;797 1765 2035 2752 18208)	ENST00000257770.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(841-843)Tat>Cat		5'-nucleotidase, ecto (CD73)	Pentoxifylline(DB00806)						146	124	132					6																	86195042		2203	4300	6503	SO:0001583	missense	4907				DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding	g.chr6:86195042T>C	X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	3.1.3.5	"CD molecules"	8021	protein-coding gene	gene with protein product		129190	"5' nucleotidase (CD73)"	NT5			Standard	NM_002526		Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.841T>C	6.37:g.86195042T>C	ENSP00000257770:p.Tyr281His					NT5E_ENST00000369651.3_Missense_Mutation_p.Y281H	p.Y281H	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0417)	4	890	+		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)	281					B3KQI8|O75520|Q5W116	Missense_Mutation	SNP	ENST00000257770.3	37	c.841T>C	CCDS5002.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.631879	0.87660	.	.	ENSG00000135318	ENST00000369647;ENST00000257770;ENST00000369651	T;T	0.54479	0.58;0.57	5.63	5.63	0.86233	.	0.110634	0.64402	D	0.000005	T	0.65863	0.2732	M	0.86651	2.83	0.58432	D	0.999999	D;D	0.63880	0.993;0.976	P;P	0.57009	0.811;0.686	T	0.72981	-0.4126	10	0.56958	D	0.05	-8.1741	15.833	0.78773	0.0:0.0:0.0:1.0	.	281;281	B3KQI8;P21589	.;5NTD_HUMAN	H	57;281;281	ENSP00000257770:Y281H;ENSP00000358665:Y281H	ENSP00000257770:Y281H	Y	+	1	0	NT5E	86251761	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.564000	0.82326	2.138000	0.66242	0.379000	0.24179	TAT		0.453	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041388.1			3	83	0	0	0	0.150653	0	3	83					C	86195042	T	C	86195042	3	2	327	1	0	0	0	0	1	0	0	0	10693	1522	53	3	855	3	NT5E	6	86195042	Missense_Mutation	SNP	T	TCGA-EM-A3FQ-01A-11D-A21A-08	40804573	86195042	84920025	6	6918											
NPTX2	4885	broad.mit.edu	37	chr7	98254301	98254301	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctccgcacaaactacctataCggcaagatcaagaagacgct	7	13	1	3	rs573416055		TCGA-EM-A3FQ-01A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79133e29-ba0b-4e2f-a6d9-bf294c5144f0	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr7:98254301C>G	ENST00000265634.3	+	3	876	c.711C>G	c.(709-711)taC>taG	p.Y237*		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	237	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			ACTACCTATACGGCAAGATCA	0.587																																						ENST00000265634.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(709-711)taC>taG		neuronal pentraxin II							222	177	192					7																	98254301		2203	4300	6503	SO:0001587	stop_gained	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98254301C>G		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"apexin"	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.711C>G	7.37:g.98254301C>G	ENSP00000265634:p.Tyr237*						p.Y237*	NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		3	876	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		237			Pentaxin.		A4D267|Q86XV7|Q96G70	Nonsense_Mutation	SNP	ENST00000265634.3	37	c.711C>G	CCDS5657.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434473	0.62955	.	.	ENSG00000106236	ENST00000265634	.	.	.	5.57	-9.88	0.00467	.	0.053697	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.2805	18.5661	0.91118	0.0:0.2275:0.0:0.7725	.	.	.	.	X	237	.	ENSP00000265634:Y237X	Y	+	3	2	NPTX2	98092237	0.000000	0.05858	0.432000	0.26747	0.367000	0.29736	-1.858000	0.01659	-2.035000	0.00923	-0.459000	0.05422	TAC		0.587	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		4	286	0	0	0	0.184627	0	4	286					G	98254301	C	G	98254301	4	3	327	1	0	0	0	0	0	1	0	0	10603	547	19	4	721	4	NPTX2	7	98254301	Nonsense_Mutation	SNP	C	TCGA-EM-A3FQ-01A-11D-A21A-08		98254301	60884362	7	6919											
TMEM132B	114795	broad.mit.edu	37	chr12	126138656	126138656	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccactcaagggaagtcaccGgaccccaataatcctagtga	8	14	2	1	rs191297957		TCGA-EM-A3FQ-01A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79133e29-ba0b-4e2f-a6d9-bf294c5144f0	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr12:126138656G>A	ENST00000299308.3	+	9	2645	c.2637G>A	c.(2635-2637)ccG>ccA	p.P879P	TMEM132B_ENST00000535886.1_Silent_p.P391P	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	879						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGAAGTCACCGGACCCCAATA	0.517													G|||	1	0.000199681	0	0	5008	,	,		21313	0		0.001	False		,,,				2504	0					ENST00000299308.3																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(2635-2637)ccG>ccA		transmembrane protein 132B		G		1,3873		0,1,1936	66	64	65		2637	-5.6	0.0	12		65	1,8273		0,1,4136	no	coding-synonymous	TMEM132B	NM_052907.2		0,2,6072	AA,AG,GG		0.0121,0.0258,0.0165		879/1079	126138656	2,12146	1937	4137	6074	SO:0001819	synonymous_variant	114795					integral to membrane		g.chr12:126138656G>A	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2637G>A	12.37:g.126138656G>A						TMEM132B_ENST00000535886.1_Silent_p.P391P	p.P879P	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	2645	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		879					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Silent	SNP	ENST00000299308.3	37	c.2637G>A	CCDS41859.1																																																																																				0.517	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		17	38	0	0	0	0.539581	0	17	38					A	126138656	G	A	126138656	2	1	327	1	0	0	0	0	0	0	0	1	16043	1103	39	1		1	TMEM132B	12	126138656	Silent	SNP	G	TCGA-EM-A3FQ-01A-11D-A21A-08		126138656	7713239	8	6920											
MCF2L	23263	broad.mit.edu	37	chr13	113728878	113728878	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcgaggagaaatcaggcGtaaggcggggtcccggcggg	19	9	1	1			TCGA-EM-A3FQ-01A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79133e29-ba0b-4e2f-a6d9-bf294c5144f0	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr13:113728878G>A	ENST00000375608.3	+	11	1264		c.e11+1		MCF2L_ENST00000421756.1_Splice_Site|MCF2L_ENST00000423482.2_Splice_Site|MCF2L_ENST00000375604.2_Splice_Site|MCF2L_ENST00000434480.2_Splice_Site|MCF2L_ENST00000535094.2_Splice_Site|MCF2L_ENST00000375601.3_Splice_Site|MCF2L_ENST00000442652.2_Splice_Site|MCF2L_ENST00000397030.1_Splice_Site|MCF2L_ENST00000375597.4_Splice_Site			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like						apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GAAATCAGGCGTAAGGCGGGG	0.642																																						ENST00000397030.1																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.e10+1		MCF.2 cell line derived transforming sequence-like							48	50	50					13																	113728878		2203	4300	6503	SO:0001630	splice_region_variant	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113728878G>A	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.1206+1G>A	13.37:g.113728878G>A						MCF2L_ENST00000421756.1_Splice_Site|MCF2L_ENST00000434480.2_Splice_Site|MCF2L_ENST00000375608.3_Splice_Site|MCF2L_ENST00000442652.2_Splice_Site|MCF2L_ENST00000535094.2_Splice_Site|MCF2L_ENST00000375601.3_Splice_Site|MCF2L_ENST00000423482.2_Splice_Site|MCF2L_ENST00000375604.2_Splice_Site|MCF2L_ENST00000375597.4_Splice_Site				O15068	MCF2L_HUMAN			10	1252	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)						A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Splice_Site	SNP	ENST00000375608.3	37			.	.	.	.	.	.	.	.	.	.	G	10.17	1.277762	0.23307	.	.	ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749;ENST00000397017	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8097	0.88612	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MCF2L	112776879	1.000000	0.71417	0.051000	0.19133	0.002000	0.02628	8.176000	0.89686	2.186000	0.69663	0.655000	0.94253	.		0.642	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4		Intron	4	108	0	0	0	0.150653	0	4	108					A	113728878	G	A	113728878	5	1	327	1	0	0	0	0	0	0	1	0	9379	1159	40	1	1421	1	MCF2L	13	113728878	Splice_Site	SNP	G	TCGA-EM-A3FQ-01A-11D-A21A-08		113728878	1441000	9	6921											
FSCB	84075	broad.mit.edu	37	chr14	44974999	44974999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgccctcagctggtaaagGctgtacttcaatgggagcct	13	11	2	0			TCGA-EM-A3FQ-01A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79133e29-ba0b-4e2f-a6d9-bf294c5144f0	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr14:44974999G>A	ENST00000340446.4	-	1	1483	c.1192C>T	c.(1192-1194)Cct>Tct	p.P398S	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	398	Pro-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GCTGGTAAAGGCTGTACTTCA	0.507																																						ENST00000340446.4																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(1192-1194)Cct>Tct		fibrous sheath CABYR binding protein							60	68	65					14																	44974999		2202	4298	6500	SO:0001583	missense	84075					cilium		g.chr14:44974999G>A	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"chromosome 14 open reading frame 155"	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1192C>T	14.37:g.44974999G>A	ENSP00000344579:p.Pro398Ser						p.P398S	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	1483	-			398			Pro-rich.		Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.1192C>T	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.670312	0.29693	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.10763	2.84	5.26	-7.29	0.01451	.	.	.	.	.	T	0.06600	0.0169	L	0.58101	1.795	0.09310	N	1	B	0.33637	0.42	B	0.25506	0.061	T	0.22417	-1.0217	9	0.35671	T	0.21	0.163	0.5553	0.00669	0.3524:0.2032:0.2474:0.1971	.	398	Q5H9T9	FSCB_HUMAN	S	398	ENSP00000344579:P398S	ENSP00000344579:P398S	P	-	1	0	FSCB	44044749	0.927000	0.31430	0.000000	0.03702	0.013000	0.08279	-0.098000	0.11024	-1.272000	0.02427	0.655000	0.94253	CCT		0.507	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		9	75	0	0	0	0.307466	0	9	75					A	44974999	G	A	44974999	3	1	327	1	0	0	0	0	1	0	0	0	6066	1203	42	2	1289	2	FSCB	14	44974999	Missense_Mutation	SNP	G	TCGA-EM-A3FQ-01A-11D-A21A-08		44974999	62374541	10	6922											
SALL1	6299	broad.mit.edu	37	chr16	51173859	51173859	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggactctgagcgggggcatAgcacgatggacactgtagtg	16	8	1	1			TCGA-EM-A3FQ-01A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79133e29-ba0b-4e2f-a6d9-bf294c5144f0	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr16:51173859A>G	ENST00000251020.4	-	2	2307	c.2274T>C	c.(2272-2274)gcT>gcC	p.A758A	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Silent_p.A661A	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	758					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GCGGGGGCATAGCACGATGGA	0.552																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(1981-1983)gcT>gcC		spalt-like transcription factor 1							79	81	81					16																	51173859		2198	4300	6498	SO:0001819	synonymous_variant	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51173859A>G	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2274T>C	16.37:g.51173859A>G						SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.A758A|SALL1_ENST00000566102.1_Intron	p.A661A	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	2414	-		all_cancers(37;0.0322)	758					Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	c.1983T>C	CCDS10747.1																																																																																				0.552	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		3	93	0	0	0	0.150653	0	3	93					G	51173859	A	G	51173859	2	3	327	1	0	0	0	0	0	0	0	1	13810	407	15	3		3	SALL1	16	51173859	Silent	SNP	A	TCGA-EM-A3FQ-01A-11D-A21A-08		51173859	39180894	11	6923											
PFAS	5198	broad.mit.edu	37	chr17	8158830	8158830	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcacccctagtttgcccaccCcccgtcagctgaggtggaag	11	16	1	1			TCGA-EM-A3FQ-01A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79133e29-ba0b-4e2f-a6d9-bf294c5144f0	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr17:8158830C>A	ENST00000314666.6	+	5	528	c.395C>A	c.(394-396)cCc>cAc	p.P132H	PFAS_ENST00000545834.1_Intron	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	132					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	TTTGCCCACCCCCCGTCAGCT	0.567																																						ENST00000314666.6																			0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(394-396)cCc>cAc		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						59	54	56					17																	8158830		2203	4300	6503	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8158830C>A	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"FGAR amidotransferase"	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.395C>A	17.37:g.8158830C>A	ENSP00000313490:p.Pro132His					PFAS_ENST00000545834.1_Intron	p.P132H	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN			5	528	+			132					A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.395C>A	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	C	6.475	0.455809	0.12283	.	.	ENSG00000178921	ENST00000314666	T	0.44881	0.91	5.66	1.05	0.20165	.	0.518878	0.20289	N	0.095298	T	0.24736	0.0600	L	0.35542	1.07	0.20638	N	0.999878	B	0.06786	0.001	B	0.06405	0.002	T	0.12344	-1.0551	10	0.23891	T	0.37	-3.4322	4.2798	0.10827	0.2841:0.505:0.1319:0.0789	.	132	O15067	PUR4_HUMAN	H	132	ENSP00000313490:P132H	ENSP00000313490:P132H	P	+	2	0	PFAS	8099555	0.000000	0.05858	0.098000	0.21074	0.215000	0.24574	-0.389000	0.07342	0.289000	0.22422	0.462000	0.41574	CCC		0.567	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			4	139	1	0	0.150653	0.150653	0.168732	4	139					A	8158830	C	A	8158830	3	1	327	1	0	0	0	0	1	0	0	0	11754	623	22	4	409	4	PFAS	17	8158830	Missense_Mutation	SNP	C	TCGA-EM-A3FQ-01A-11D-A21A-08		8158830	73036380	12	6924											
PCDH11X	27328	broad.mit.edu	37	chrX	91133712	91133712	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctggcaccataactgtcGttgtagttattttcatcact	7	9	2	0	rs377250651		TCGA-EM-A3FQ-01A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79133e29-ba0b-4e2f-a6d9-bf294c5144f0	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chrX:91133712G>A	ENST00000373094.1	+	2	3318	c.2473G>A	c.(2473-2475)Gtt>Att	p.V825I	PCDH11X_ENST00000298274.8_Missense_Mutation_p.V825I|PCDH11X_ENST00000504220.2_Missense_Mutation_p.V825I|PCDH11X_ENST00000373097.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000361724.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000395337.2_Missense_Mutation_p.V825I|PCDH11X_ENST00000406881.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.V825I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	825					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CATAACTGTCGTTGTAGTTAT	0.463																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(2473-2475)Gtt>Att		protocadherin 11 X-linked		G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,3834		0,1,1631,571	52	45	48		2473,2473,2473,2473,2473,2473,2473,2473	-0.9	0.0	X		48	0,6719		0,0,2425,1869	no	missense,missense,missense,missense,missense,missense,missense,missense	PCDH11X	NM_032969.3,NM_032968.3,NM_032967.2,NM_014522.1,NM_001168363.1,NM_001168362.1,NM_001168361.1,NM_001168360.1	29,29,29,29,29,29,29,29	0,1,4056,2440	AA,AG,GG,G		0.0,0.0261,0.0095	benign,benign,benign,benign,benign,benign,benign,benign	825/1338,825/1348,825/1026,825/1022,825/1330,825/1311,825/1066,825/1340	91133712	1,10553	2203	4294	6497	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133712G>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2473G>A	X.37:g.91133712G>A	ENSP00000362186:p.Val825Ile					PCDH11X_ENST00000361655.2_Missense_Mutation_p.V825I|PCDH11X_ENST00000406881.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000373097.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000504220.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000361724.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000298274.8_Missense_Mutation_p.V825I|PCDH11X_ENST00000395337.2_Missense_Mutation_p.V825I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.V825I	p.V825I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			2	3318	+			825					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.2473G>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.097495	0.00034	2.61E-4	0.0	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7	5.15	-0.908	0.10517	Protocadherin (1);	0.222920	0.44097	N	0.000483	T	0.05090	0.0136	N	0.00583	-1.355	0.24408	N	0.994678	B;B;B;B;B;B;B;B	0.12013	0.004;0.004;0.004;0.004;0.004;0.005;0.004;0.002	B;B;B;B;B;B;B;B	0.11329	0.003;0.003;0.003;0.003;0.003;0.006;0.003;0.003	T	0.42982	-0.9419	10	0.02654	T	1	.	9.8467	0.41032	0.6433:0.0:0.3567:0.0	.	825;825;825;825;825;825;825;825	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	I	825	ENSP00000378746:V825I;ENSP00000362186:V825I;ENSP00000362189:V825I;ENSP00000355040:V825I;ENSP00000362180:V825I;ENSP00000423762:V825I;ENSP00000355105:V825I;ENSP00000384758:V825I;ENSP00000298274:V825I	ENSP00000298274:V825I	V	+	1	0	PCDH11X	91020368	0.848000	0.29623	0.031000	0.17742	0.033000	0.12548	1.274000	0.33132	-0.109000	0.12044	-0.365000	0.07479	GTT		0.463	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		29	67	0	0	0	0.834066	0	29	67					A	91133712	G	A	91133712	3	1	327	1	0	0	0	0	1	0	0	0	11508	1145	40	1	2479	1	PCDH11X	23	91133712	Missense_Mutation	SNP	G	TCGA-EM-A3FQ-01A-11D-A21A-08		91133712	64136848	13	6925											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17914071	17914071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaccagcgcagccctgggcGtccccagccttgctcctgag	11	18	0	1			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr1:17914071G>A	ENST00000361221.3	+	3	313	c.154G>A	c.(154-156)Gtc>Atc	p.V52I	ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.V52I|ARHGEF10L_ENST00000375420.3_5'Flank|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.V52I|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.V52I	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	52						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)		AGCCCTGGGCGTCCCCAGCCT	0.597																																						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.(154-156)Gtc>Atc		Rho guanine nucleotide exchange factor (GEF) 10-like							147	161	156					1																	17914071		2203	4300	6503	SO:0001583	missense	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17914071G>A	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.154G>A	1.37:g.17914071G>A	ENSP00000355060:p.Val52Ile					ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.V52I|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.V52I|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.V52I	p.V52I	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)	3	313	+		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)	52					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.154G>A	CCDS182.1	.	.	.	.	.	.	.	.	.	.	G	9.654	1.142294	0.21205	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415	T;T;T;T	0.60040	0.4;0.37;0.22;0.37	4.57	0.572	0.17357	.	1.016860	0.07891	N	0.971123	T	0.37839	0.1018	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.26975	0.165;0.072;0.021;0.012	B;B;B;B	0.19148	0.023;0.016;0.024;0.01	T	0.18335	-1.0340	10	0.16420	T	0.52	-5.8202	6.3153	0.21186	0.4222:0.0:0.5778:0.0	.	52;52;52;52	Q9HCE6-5;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;ARGAL_HUMAN	I	52	ENSP00000355060:V52I;ENSP00000399401:V52I;ENSP00000394621:V52I;ENSP00000364564:V52I	ENSP00000355060:V52I	V	+	1	0	ARHGEF10L	17786658	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.029000	0.12329	0.248000	0.21435	-0.258000	0.10820	GTC		0.597	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		5	304	0	0	0	1	0	5	304					A	17914071	G	A	17914071	3	1	328	1	0	0	0	0	1	0	0	0	895	1145	40	1	160	1	ARHGEF10L	1	17914071	Missense_Mutation	SNP	G	TCGA-EM-A3FR-01A-11D-A21Z-08		17914071	231336550	1	6926											
DENND4B	9909	broad.mit.edu	37	chr1	153907309	153907309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgttgCtgctgctgctgctgttgccg	14	12	0	0			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.				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)	p.Q788Q(1)|p.Q900Q(1)		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)			gctgctgttgctgctgctgct	0.642																																						ENST00000361217.4																			2	Substitution - coding silent(2)	p.Q788Q(1)|p.Q900Q(1)	lung(2)	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.(2698-2700)caG>caA		DENN/MADD domain containing 4B							33	42	39					1																	153907309		2187	4283	6470	SO:0001819	synonymous_variant	9909							g.chr1:153907309C>T	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.2700G>A	1.37:g.153907309C>T							p.Q900Q	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3118	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		900			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2700G>A	CCDS44228.1																																																																																				0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		5	74	0	0	0	1	0	5	74					T	153907309	C	T	153907309	2	4	328	1	0	0	0	0	0	0	0	1	4434	796	28	2		2	DENND4B	1	153907309	Silent	SNP	C	TCGA-EM-A3FR-01A-11D-A21Z-08	135993238	153907309	95343312	2	6927											
XPR1	9213	broad.mit.edu	37	chr1	180849246	180849246	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acttcttccgcctggagaatGaacatctgaataactgtggt	9	9	2	3			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr1:180849246G>A	ENST00000367590.4	+	14	2041	c.1843G>A	c.(1843-1845)Gaa>Aaa	p.E615K	XPR1_ENST00000367589.3_Missense_Mutation_p.E550K	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	615	EXS. {ECO:0000255|PROSITE- ProRule:PRU00712}.				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)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						CCTGGAGAATGAACATCTGAA	0.458																																						ENST00000367590.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						c.(1843-1845)Gaa>Aaa		xenotropic and polytropic retrovirus receptor 1							113	113	113					1																	180849246		2203	4300	6503	SO:0001583	missense	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180849246G>A	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"xenotropic and polytropic retrovirus receptor"			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.1843G>A	1.37:g.180849246G>A	ENSP00000356562:p.Glu615Lys					XPR1_ENST00000367589.3_Missense_Mutation_p.E550K	p.E615K	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN			14	2041	+			615			EXS.		O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	c.1843G>A	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	G	36	5.831657	0.97003	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T;T	0.66280	-0.2;-0.2	5.57	5.57	0.84162	EXS, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.86539	0.5957	H	0.96142	3.775	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90527	0.4493	10	0.87932	D	0	-13.3488	19.1489	0.93479	0.0:0.0:1.0:0.0	.	550;615	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	K	615;550	ENSP00000356562:E615K;ENSP00000356561:E550K	ENSP00000356561:E550K	E	+	1	0	XPR1	179115869	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	9.726000	0.98782	2.599000	0.87857	0.591000	0.81541	GAA		0.458	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		45	51	0	0	0	1	0	45	51					A	180849246	G	A	180849246	3	1	328	1	0	0	0	0	1	0	0	0	17448	1291	45	2	1897	2	XPR1	1	180849246	Missense_Mutation	SNP	G	TCGA-EM-A3FR-01A-11D-A21Z-08	26941937	180849246	68401375	3	6928											
PLXNA2	5362	broad.mit.edu	37	chr1	208234068	208234068	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcccctgggaggggcgtgcAgggcaccccagccacctgca	14	16	0	0			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr1:208234068A>G	ENST00000367033.3	-	13	3458	c.2701T>C	c.(2701-2703)Tgc>Cgc	p.C901R		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	901	IPT/TIG 1.				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)		AGGGGCGTGCAGGGCACCCCA	0.637																																						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.(2701-2703)Tgc>Cgc		plexin A2							58	55	56					1																	208234068		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208234068A>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.2701T>C	1.37:g.208234068A>G	ENSP00000356000:p.Cys901Arg						p.C901R	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	13	3458	-			901			IPT/TIG 1.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.2701T>C	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.643486	0.87859	.	.	ENSG00000076356	ENST00000367033	T	0.63580	-0.05	5.08	5.08	0.68730	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.84871	0.5568	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89618	0.3846	10	0.87932	D	0	.	14.8772	0.70504	1.0:0.0:0.0:0.0	.	901	O75051	PLXA2_HUMAN	R	901	ENSP00000356000:C901R	ENSP00000356000:C901R	C	-	1	0	PLXNA2	206300691	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.956000	0.93066	1.925000	0.55765	0.533000	0.62120	TGC		0.637	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		3	52	0	0	0	1	0	3	52					G	208234068	A	G	208234068	3	3	328	1	0	0	0	0	1	0	0	0	12120	188	7	3	3063	3	PLXNA2	1	208234068	Missense_Mutation	SNP	A	TCGA-EM-A3FR-01A-11D-A21Z-08	27384822	208234068	41016553	4	6929											
ASAP2	8853	broad.mit.edu	37	chr2	9463306	9463306	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gctccatgggatgattcggaCtgaaataagcggagcggaaa	14	7	0	2			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr2:9463306C>G	ENST00000281419.3	+	6	867	c.527C>G	c.(526-528)aCt>aGt	p.T176S	ASAP2_ENST00000315273.4_Missense_Mutation_p.T176S	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	176					positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						ATGATTCGGACTGAAATAAGC	0.498																																						ENST00000281419.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						c.(526-528)aCt>aGt		ArfGAP with SH3 domain, ankyrin repeat and PH domain 2							138	140	139					2																	9463306		2203	4300	6503	SO:0001583	missense	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9463306C>G	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2721	protein-coding gene	gene with protein product	"centaurin, beta 3"	603817	"development and differentiation enhancing factor 2"	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.527C>G	2.37:g.9463306C>G	ENSP00000281419:p.Thr176Ser					ASAP2_ENST00000315273.4_Missense_Mutation_p.T176S	p.T176S	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN			6	867	+			176					D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	37	c.527C>G	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542974	0.86022	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.57436	0.41;0.4	5.11	5.11	0.69529	.	0.050455	0.85682	D	0.000000	T	0.66479	0.2793	L	0.46157	1.445	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.76071	0.987;0.97	T	0.61628	-0.7024	10	0.31617	T	0.26	.	18.3423	0.90309	0.0:1.0:0.0:0.0	.	176;176	O43150-2;O43150	.;ASAP2_HUMAN	S	176	ENSP00000281419:T176S;ENSP00000316404:T176S	ENSP00000281419:T176S	T	+	2	0	ASAP2	9380757	1.000000	0.71417	0.120000	0.21714	0.950000	0.60333	5.537000	0.67186	2.646000	0.89796	0.655000	0.94253	ACT		0.498	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		88	137	0	0	0	1	0	88	137					G	9463306	C	G	9463306	3	3	328	1	0	0	0	0	1	0	0	0	1011	565	20	4	549	4	ASAP2	2	9463306	Missense_Mutation	SNP	C	TCGA-EM-A3FR-01A-11D-A21Z-08		9463306	233736067	5	6930											
LCT	3938	broad.mit.edu	37	chr2	136574959	136574959	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccgggagggtgctggccGgtgccatagcctgcgtagct	17	11	0	0	rs142388926		TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr2:136574959G>A	ENST00000264162.2	-	6	1669	c.1659C>T	c.(1657-1659)acC>acT	p.T553T	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	553	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GGTGCTGGCCGGTGCCATAGC	0.572																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(1657-1659)acC>acT		lactase		G		1,4405	2.1+/-5.4	0,1,2202	76	73	74		1659	-8.4	0.3	2	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LCT	NM_002299.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		553/1928	136574959	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136574959G>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.1659C>T	2.37:g.136574959G>A							p.T553T	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	6	1669	-			553			4 X approximate repeats.		Q4ZG58	Silent	SNP	ENST00000264162.2	37	c.1659C>T	CCDS2178.1																																																																																				0.572	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		3	94	0	0	0	1	0	3	94					A	136574959	G	A	136574959	2	1	328	1	0	0	0	0	0	0	0	1	8693	1103	39	1		1	LCT	2	136574959	Silent	SNP	G	TCGA-EM-A3FR-01A-11D-A21Z-08	127111653	136574959	106624414	6	6931											
INPP5D	3635	broad.mit.edu	37	chr2	233990613	233990613	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cattgttccagcgactgcaaAgcatggacaccagtgggtga	12	10	0	1			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr2:233990613A>T	ENST00000359570.5	+	4	508	c.508A>T	c.(508-510)Agc>Tgc	p.S170C	INPP5D_ENST00000474278.1_3'UTR|INPP5D_ENST00000538935.1_Missense_Mutation_p.S170C			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	170					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GCGACTGCAAAGCATGGACAC	0.602																																					NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5																			0				central_nervous_system(1)|ovary(1)	2						c.(508-510)Agc>Tgc		inositol polyphosphate-5-phosphatase, 145kDa							29	32	31					2																	233990613		2037	4203	6240	SO:0001583	missense	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:233990613A>T	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"SH2 domain containing"	6079	protein-coding gene	gene with protein product		601582	"inositol polyphosphate-5-phosphatase, 145kD"			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.508A>T	2.37:g.233990613A>T	ENSP00000352575:p.Ser170Cys					INPP5D_ENST00000538935.1_Missense_Mutation_p.S170C|INPP5D_ENST00000474278.1_3'UTR	p.S170C			Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	4	508	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	170					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37	c.508A>T		.	.	.	.	.	.	.	.	.	.	A	13.38	2.220376	0.39201	.	.	ENSG00000168918	ENST00000422935;ENST00000451407;ENST00000359570;ENST00000538935	D;D;D;D	0.96459	-3.0;-2.99;-4.02;-3.98	5.23	1.34	0.21922	.	0.784649	0.12877	N	0.431757	D	0.93223	0.7841	.	.	.	0.20403	N	0.999904	P;B	0.34892	0.474;0.343	B;B	0.42214	0.38;0.211	D	0.87332	0.2325	9	0.59425	D	0.04	.	0.454	0.00505	0.4294:0.1846:0.2091:0.1769	.	169;170	Q92835-2;Q92835	.;SHIP1_HUMAN	C	169;170;170;170	ENSP00000409018:S169C;ENSP00000415253:S170C;ENSP00000352575:S170C;ENSP00000441010:S170C	ENSP00000352575:S170C	S	+	1	0	INPP5D	233698857	0.023000	0.18921	0.963000	0.40424	0.717000	0.41224	0.080000	0.14802	0.840000	0.34995	0.529000	0.55759	AGC		0.602	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		7	32	0	0	0	1	0	7	32					T	233990613	A	T	233990613	3	4	328	1	0	0	0	0	1	0	0	0	7756	72	3	5	522	5	INPP5D	2	233990613	Missense_Mutation	SNP	A	TCGA-EM-A3FR-01A-11D-A21Z-08	97415654	233990613	9208760	7	6932											
PCDHA3	56145	broad.mit.edu	37	chr5	140180926	140180926	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggcaccttcgtgggccgcatCgcgcaggacctggggctgga	17	13	0	0			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr5:140180926C>A	ENST00000522353.2	+	1	144	c.144C>A	c.(142-144)atC>atA	p.I48I	PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.I48I|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	48	Cadherin 1. {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)			TGGGCCGCATCGCGCAGGACC	0.647																																						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.(142-144)atC>atA									53	62	59					5																	140180926		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140180926C>A	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.144C>A	5.37:g.140180926C>A						PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.I48I|PCDHA2_ENST00000520672.2_Intron	p.I48I	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	144	+								O75286	Silent	SNP	ENST00000522353.2	37	c.144C>A	CCDS54915.1																																																																																				0.647	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		4	142	1	0	0.150653	1	0.161677	4	142					A	140180926	C	A	140180926	2	1	328	1	0	0	0	0	0	0	0	1	11525	874	31	4		4	PCDHA3	5	140180926	Silent	SNP	C	TCGA-EM-A3FR-01A-11D-A21Z-08		140180926	40734334	8	6933											
ZNF300	91975	broad.mit.edu	37	chr5	150278070	150278070	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagggtcaagttgctgccacTcctcctgggtgaaatccaca	10	12	1	1			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr5:150278070T>C	ENST00000274599.5	-	4	482	c.62A>G	c.(61-63)gAg>gGg	p.E21G	ZNF300_ENST00000427179.1_Missense_Mutation_p.E21G|ZNF300_ENST00000446148.2_Missense_Mutation_p.E37G|ZNF300_ENST00000394226.2_Missense_Mutation_p.E21G|ZNF300_ENST00000418587.2_5'UTR	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	21	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGCTGCCACTCCTCCTGGGT	0.463																																						ENST00000427179.1																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27						c.(61-63)gAg>gGg		zinc finger protein 300							101	103	102					5																	150278070		2203	4300	6503	SO:0001583	missense	91975				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:150278070T>C	AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"Zinc fingers, C2H2-type", "-"	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.62A>G	5.37:g.150278070T>C	ENSP00000274599:p.Glu21Gly					ZNF300_ENST00000446148.2_Missense_Mutation_p.E37G|ZNF300_ENST00000394226.2_Missense_Mutation_p.E21G|ZNF300_ENST00000418587.2_5'UTR|ZNF300_ENST00000274599.5_Missense_Mutation_p.E21G	p.E21G			Q96RE9	ZN300_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	288	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	21			KRAB.		A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	ENST00000274599.5	37	c.62A>G	CCDS4311.2	.	.	.	.	.	.	.	.	.	.	T	18.42	3.620428	0.66787	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000427179;ENST00000394226	T;T;T;T	0.12255	2.7;2.7;2.7;2.7	3.26	3.26	0.37387	Krueppel-associated box (4);	.	.	.	.	T	0.51601	0.1684	H	0.99011	4.4	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.66720	-0.5852	9	0.87932	D	0	.	9.8868	0.41266	0.0:0.0:0.0:1.0	.	21	Q96RE9	ZN300_HUMAN	G	37;21;21;21	ENSP00000397178:E37G;ENSP00000274599:E21G;ENSP00000414195:E21G;ENSP00000377773:E21G	ENSP00000274599:E21G	E	-	2	0	ZNF300	150258263	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.741000	0.62095	1.510000	0.48803	0.383000	0.25322	GAG		0.463	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_052860		42	224	0	0	0	1	0	42	224					C	150278070	T	C	150278070	3	2	328	1	0	0	0	0	1	0	0	0	17828	1551	54	3	1764	3	ZNF300	5	150278070	Missense_Mutation	SNP	T	TCGA-EM-A3FR-01A-11D-A21Z-08	10097144	150278070	30637190	9	6934											
RUNX2	860	broad.mit.edu	37	chr6	45390463	45390463	+	Silent	SNP	G	G	A													caacagcagcagcagcagcaGcaacagcagcagcagcagca							TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_ENST00000371436.6_Silent_p.Q64Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(190-192)caG>caA		runt-related transcription factor 2							11	16	14					6																	45390463		1448	3096	4544	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390463G>A	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.192G>A	6.37:g.45390463G>A						RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q	p.Q64Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	550	+			64			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.192G>A	CCDS43467.2																																																																																				0.736	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		3	32	0	0	0	1	0	3	32					A	45390463	G	A	45390463	2	1	328	1	0	0	0	0	0	0	0	1	13748	962	34	2		2	RUNX2	6	45390463	Silent	SNP	G	TCGA-EM-A3FR-01A-11D-A21Z-08		45390463	125724604	10	6935	35	2									
RUNX2	860	broad.mit.edu	37	chr6	45390466	45390466	+	Silent	SNP	A	A	G													cagcagcagcagcagcagcaAcagcagcagcagcagcagga					rs575896136	byFrequency	TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000371436.6_Silent_p.Q65Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													A|||	8	0.00159744	0.0023	0	5008	,	,		7675	0.002		0	False		,,,				2504	0.0031					ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(193-195)caA>caG		runt-related transcription factor 2							10	15	14					6																	45390466		1452	3071	4523	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390466A>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.195A>G	6.37:g.45390466A>G						RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q	p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	553	+			65			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.195A>G	CCDS43467.2																																																																																				0.731	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		4	29	0	0	0	1	0	4	29					G	45390466	A	G	45390466	2	3	328	1	0	0	0	0	0	0	0	1	13748	40	2	3		3	RUNX2	6	45390466	Silent	SNP	A	TCGA-EM-A3FR-01A-11D-A21Z-08	3	45390466	125724601	11	6936	35	2									
PNLDC1	154197	broad.mit.edu	37	chr6	160225058	160225058	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cgtttgggattttggactcaGaattctccttccaggcttcc	9	11	2	1			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr6:160225058G>C	ENST00000610273.1	+	5	448	c.277G>C	c.(277-279)Gaa>Caa	p.E93Q	PNLDC1_ENST00000609334.1_3'UTR|PNLDC1_ENST00000392167.3_Missense_Mutation_p.E104Q	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	93						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TTTGGACTCAGAATTCTCCTT	0.398																																						ENST00000275275.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(277-279)Gaa>Caa		poly(A)-specific ribonuclease (PARN)-like domain containing 1							152	157	155					6																	160225058		2203	4300	6503	SO:0001583	missense	154197					integral to membrane|nucleus	nucleic acid binding	g.chr6:160225058G>C	AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.277G>C	6.37:g.160225058G>C	ENSP00000476448:p.Glu93Gln					PNLDC1_ENST00000392167.3_Missense_Mutation_p.E104Q	p.E93Q	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	5	448	+		Breast(66;0.00519)|Ovarian(120;0.123)	93					Q5TAP7|Q8N7X5	Missense_Mutation	SNP	ENST00000610273.1	37	c.277G>C	CCDS5271.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064215	0.36373	.	.	ENSG00000146453	ENST00000275275;ENST00000392167	T;T	0.22539	1.95;1.95	5.61	4.69	0.59074	Ribonuclease H-like (1);	0.090906	0.47455	D	0.000239	T	0.06600	0.0169	N	0.22421	0.69	0.36519	D	0.870023	B;P	0.38420	0.433;0.63	B;B	0.34873	0.068;0.191	T	0.24548	-1.0157	10	0.25751	T	0.34	.	13.4577	0.61208	0.0:0.1566:0.8434:0.0	.	104;93	Q8NA58-2;Q8NA58	.;PNDC1_HUMAN	Q	93;104	ENSP00000275275:E93Q;ENSP00000376007:E104Q	ENSP00000275275:E93Q	E	+	1	0	PNLDC1	160145048	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	4.286000	0.58995	2.640000	0.89533	0.655000	0.94253	GAA		0.398	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_173516		100	184	0	0	0	1	0	100	184					C	160225058	G	C	160225058	3	2	328	1	0	0	0	0	1	0	0	0	12148	943	33	4	291	4	PNLDC1	6	160225058	Missense_Mutation	SNP	G	TCGA-EM-A3FR-01A-11D-A21Z-08	114834592	160225058	10890009	12	6937											
CFTR	1080	broad.mit.edu	37	chr7	117234990	117234990	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attcttttattcaggagtgcTtttttgatgatatggagagc	10	4	2	3	rs397508390		TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr7:117234990T>C	ENST00000003084.6	+	15	2629	c.2497T>C	c.(2497-2499)Ttt>Ctt	p.F833L	CFTR_ENST00000454343.1_Missense_Mutation_p.F772L	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	833				F -> L (in Ref. 1; AAA35680). {ECO:0000305}.	cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	TCAGGAGTGCTTTTTTGATGA	0.323									Cystic Fibrosis																													ENST00000003084.6																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69						c.(2497-2499)Ttt>Ctt		cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	Bumetanide(DB00887)|Glibenclamide(DB01016)						122	119	120					7																	117234990		2203	4300	6503	SO:0001583	missense	1080	Cystic Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117234990T>C	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators", "ATP binding cassette transporters / subfamily C"	1884	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family C, member 7"	602421	"cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.2497T>C	7.37:g.117234990T>C	ENSP00000003084:p.Phe833Leu					CFTR_ENST00000454343.1_Missense_Mutation_p.F772L	p.F833L	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		15	2629	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		833	F -> L (in Ref. 1; AAA35680).				Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.2497T>C	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	T	14.38	2.518595	0.44763	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.95821	-3.82;-3.82;-3.82	5.34	4.17	0.49024	ABC transporter, transmembrane domain, type 1 (1);	0.092924	0.85682	N	0.000000	D	0.92166	0.7516	L	0.49350	1.555	0.54753	D	0.999981	B	0.12013	0.005	B	0.23574	0.047	D	0.86331	0.1698	10	0.12103	T	0.63	-17.4483	11.4499	0.50147	0.0:0.0715:0.0:0.9285	.	833	P13569	CFTR_HUMAN	L	833;772;803	ENSP00000003084:F833L;ENSP00000403677:F772L;ENSP00000389119:F803L	ENSP00000003084:F833L	F	+	1	0	CFTR	117022226	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	5.508000	0.67006	0.955000	0.37878	0.482000	0.46254	TTT		0.323	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		3	107	0	0	0	1	0	3	107					C	117234990	T	C	117234990	3	2	328	1	0	0	0	0	1	0	0	0	3294	1609	56	3	2555	3	CFTR	7	117234990	Missense_Mutation	SNP	T	TCGA-EM-A3FR-01A-11D-A21Z-08		117234990	41903673	13	6938											
SNAI2	6591	broad.mit.edu	37	chr8	49832563	49832563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgaatatgcatcttcagggCgcccaggctcacatattcct	8	14	3	0			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr8:49832563C>T	ENST00000396822.1	-	3	874	c.517G>A	c.(517-519)Gcc>Acc	p.A173T	SNAI2_ENST00000020945.1_Missense_Mutation_p.A173T			O43623	SNAI2_HUMAN	snail family zinc finger 2	173					canonical Wnt signaling pathway (GO:0060070)|cartilage morphogenesis (GO:0060536)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to ionizing radiation (GO:0071479)|desmosome disassembly (GO:0035921)|embryo development (GO:0009790)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|epithelium development (GO:0060429)|negative regulation of anoikis (GO:2000811)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter (GO:1900387)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|negative regulation of vitamin D receptor signaling pathway (GO:0070563)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone acetylation (GO:0035066)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of chemokine production (GO:0032642)|regulation of osteoblast differentiation (GO:0045667)|regulation of tight junction assembly (GO:2000810)|sensory perception of sound (GO:0007605)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|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 transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				ATCTTCAGGGCGCCCAGGCTC	0.483																																						ENST00000396822.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18						c.(517-519)Gcc>Acc		snail family zinc finger 2							91	91	91					8																	49832563		2203	4300	6503	SO:0001583	missense	6591				canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:49832563C>T	U97060	CCDS6146.1	8q11.21	2013-05-23	2013-05-23	2002-02-28	ENSG00000019549	ENSG00000019549		"Snail homologs", "Zinc fingers, C2H2-type"	11094	protein-coding gene	gene with protein product		602150	"slug homolog, zinc finger protein (chicken)", "snail homolog 2 (Drosophila)"	SLUG		9337409, 9721220	Standard	NM_003068		Approved	SLUGH1, SNAIL2	uc003xqp.3	O43623	OTTHUMG00000149912	ENST00000396822.1:c.517G>A	8.37:g.49832563C>T	ENSP00000380034:p.Ala173Thr					SNAI2_ENST00000020945.1_Missense_Mutation_p.A173T	p.A173T			O43623	SNAI2_HUMAN			3	874	-		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)	173					B2R6P6|Q53FC1	Missense_Mutation	SNP	ENST00000396822.1	37	c.517G>A	CCDS6146.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948696	0.92660	.	.	ENSG00000019549	ENST00000020945;ENST00000396822	T;T	0.50548	0.74;0.74	5.52	5.52	0.82312	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.49677	0.1571	N	0.04655	-0.195	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.61222	-0.7106	10	0.44086	T	0.13	-19.3139	19.4195	0.94715	0.0:1.0:0.0:0.0	.	173	O43623	SNAI2_HUMAN	T	173	ENSP00000020945:A173T;ENSP00000380034:A173T	ENSP00000020945:A173T	A	-	1	0	SNAI2	49995116	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	7.487000	0.81328	2.585000	0.87301	0.655000	0.94253	GCC		0.483	SNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313873.2	NM_003068		34	52	0	0	0	1	0	34	52					T	49832563	C	T	49832563	3	4	328	1	0	0	0	0	1	0	0	0	14827	768	27	1	297	1	SNAI2	8	49832563	Missense_Mutation	SNP	C	TCGA-EM-A3FR-01A-11D-A21Z-08		49832563	96531459	14	6939											
ZNF704	619279	broad.mit.edu	37	chr8	81733713	81733713	+	Frame_Shift_Del	DEL	T	T	-													tggtcaaggatccggctggcTtttttggtgtctgctgtttt							TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr8:81733713delT	ENST00000327835.3	-	2	348	c.117delA	c.(115-117)aaafs	p.K39fs		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	39							metal ion binding (GO:0046872)			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TCCGGCTGGCTTTTTTGGTGT	0.428																																						ENST00000327835.3																			0				lung(9)|skin(1)|upper_aerodigestive_tract(1)	11						c.(115-117)aafs		zinc finger protein 704							329	308	315					8																	81733713		2203	4300	6503	SO:0001589	frameshift_variant	619279					intracellular	zinc ion binding	g.chr8:81733713delT	AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684			32291	protein-coding gene	gene with protein product							Standard	NM_001033723		Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.117delA	8.37:g.81733713delT	ENSP00000331462:p.Lys39fs						p.K39fs	NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)		2	348	-	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		39					B2RNE6|B9EGW6	Frame_Shift_Del	DEL	ENST00000327835.3	37	c.117delA	CCDS34913.1																																																																																				0.428	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379964.2	NM_001033723		7	538						7	538	---	---	---	---	-	81733713	T	-	81733713	7	5	328	1	0	1	0	1	0	0	0	0	18104	1606	56	0	1153	0	ZNF704	8	81733713	Frame_Shift_Del	DEL	T	TCGA-EM-A3FR-01A-11D-A21Z-08	31901150	81733713	64630309	15	6940											
TG	7038	broad.mit.edu	37	chr8	133899146	133899149	+	Frame_Shift_Del	DEL	TGAA	TGAA	-													acttggtcttgcaagcttctTgaatggagggagacaagaag					rs192077055	byFrequency	TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr8:133899146_133899149delTGAA	ENST00000220616.4	+	9	1569_1572	c.1529_1532delTGAA	c.(1528-1533)ttgaatfs	p.LN510fs	TG_ENST00000377869.1_Frame_Shift_Del_p.LN510fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	510					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCAAGCTTCTTGAATGGAGGGAGA	0.451																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(1528-1533)ttfs		thyroglobulin																																				SO:0001589	frameshift_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133899146_133899149delTGAA	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.1529_1532delTGAA	8.37:g.133899146_133899149delTGAA	ENSP00000220616:p.Leu510fs					TG_ENST00000377869.1_Frame_Shift_Del_p.LN510fs	p.LN510fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	9	1569_1572	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	510					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Frame_Shift_Del	DEL	ENST00000220616.4	37	c.1529_1532delTGAA	CCDS34944.1																																																																																				0.451	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		35	54						35	54	---	---	---	---	-	133899149	TGAA	-	133899146	7	5	328	1	0	1	0	1	0	0	0	0	15810	1821	63	0	1563	0	TG	8	133899146	Frame_Shift_Del	DEL	TGAA	TCGA-EM-A3FR-01A-11D-A21Z-08	52165433	133899146	12464876	16	6941											
PTPRD	5789	broad.mit.edu	37	chr9	8733812	8733814	+	In_Frame_Del	DEL	AGC	AGC	-													tgcggaggaagaaagtgaggAgcagcagcagcagcctggct							TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr9:8733812_8733814delAGC	ENST00000381196.4	-	9	573_575	c.30_32delGCT	c.(28-33)ctgctc>ctc	p.10_11LL>L	PTPRD_ENST00000486161.1_In_Frame_Del_p.10_11LL>L|PTPRD_ENST00000397617.3_In_Frame_Del_p.10_11LL>L|PTPRD_ENST00000540109.1_In_Frame_Del_p.10_11LL>L|PTPRD_ENST00000356435.5_In_Frame_Del_p.10_11LL>L|PTPRD_ENST00000397606.3_In_Frame_Del_p.10_11LL>L|PTPRD_ENST00000355233.5_In_Frame_Del_p.10_11LL>L|PTPRD_ENST00000397611.3_In_Frame_Del_p.10_11LL>L|PTPRD_ENST00000463477.1_In_Frame_Del_p.10_11LL>L|PTPRD_ENST00000537002.1_In_Frame_Del_p.10_11LL>L|PTPRD_ENST00000358503.5_In_Frame_Del_p.10_11LL>L|PTPRD_ENST00000360074.4_In_Frame_Del_p.10_11LL>L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	10					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GAAAGTGAGGAGCAGCAGCAGCA	0.591										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(28-33)ctc>ct		protein tyrosine phosphatase, receptor type, D			,,,,,	9,4115		1,7,2054					,,,,,	0.1	0.8			53	11,7977		1,9,3984	no	coding,coding,coding,coding,coding,coding	PTPRD	NM_130393.3,NM_130392.3,NM_130391.3,NM_002839.3,NM_001171025.1,NM_001040712.2	,,,,,	2,16,6038	A1A1,A1R,RR		0.1377,0.2182,0.1651	,,,,,	,,,,,		20,12092				SO:0001651	inframe_deletion	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8733812_8733814delAGC	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.30_32delGCT	9.37:g.8733821_8733823delAGC	ENSP00000370593:p.Leu12del	TSP Lung(15;0.13)				PTPRD_ENST00000486161.1_In_Frame_Del_p.LL10del|PTPRD_ENST00000356435.5_In_Frame_Del_p.LL10del|PTPRD_ENST00000355233.5_In_Frame_Del_p.LL10del|PTPRD_ENST00000397606.3_In_Frame_Del_p.LL10del|PTPRD_ENST00000397611.3_In_Frame_Del_p.LL10del|PTPRD_ENST00000397617.3_In_Frame_Del_p.LL10del|PTPRD_ENST00000463477.1_In_Frame_Del_p.LL10del|PTPRD_ENST00000540109.1_In_Frame_Del_p.LL10del|PTPRD_ENST00000360074.4_In_Frame_Del_p.LL10del|PTPRD_ENST00000537002.1_In_Frame_Del_p.LL10del|PTPRD_ENST00000358503.5_In_Frame_Del_p.LL10del	p.LL10del	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	9	573_575	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	10					B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	In_Frame_Del	DEL	ENST00000381196.4	37	c.30_32delGCT	CCDS43786.1																																																																																				0.591	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			2	4						2	4	---	---	---	---	-	8733814	AGC	-	8733812	7	5	328	1	0	1	0	1	0	0	0	0	12799	304	11	0	5914	0	PTPRD	9	8733812	In_Frame_Del	DEL	AGC	TCGA-EM-A3FR-01A-11D-A21Z-08		8733812	132479619	17	6942											
GARNL3	84253	broad.mit.edu	37	chr9	130106562	130106562	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtcttaccagagtcacccAagtcagcgcggaagaaagag	11	10	3	3			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr9:130106562A>G	ENST00000373387.4	+	15	1652	c.1300A>G	c.(1300-1302)Aag>Gag	p.K434E	GARNL3_ENST00000314904.5_Missense_Mutation_p.K434E|GARNL3_ENST00000435213.2_Missense_Mutation_p.K412E	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	434					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						AGAGTCACCCAAGTCAGCGCG	0.423																																						ENST00000373387.4																			0				NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						c.(1300-1302)Aag>Gag		GTPase activating Rap/RanGAP domain-like 3							136	152	147					9																	130106562		2203	4300	6503	SO:0001583	missense	84253				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	g.chr9:130106562A>G	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"GTPase activating RANGAP domain-like 3"			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.1300A>G	9.37:g.130106562A>G	ENSP00000362485:p.Lys434Glu					GARNL3_ENST00000314904.5_Missense_Mutation_p.K434E|GARNL3_ENST00000435213.2_Missense_Mutation_p.K412E	p.K434E	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN			15	1652	+			434					B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	ENST00000373387.4	37	c.1300A>G	CCDS6869.2	.	.	.	.	.	.	.	.	.	.	A	18.94	3.729582	0.69074	.	.	ENSG00000136895	ENST00000435213;ENST00000314904;ENST00000373387	D;D;D	0.87412	-2.24;-2.21;-2.25	5.58	5.58	0.84498	.	0.042704	0.85682	D	0.000000	T	0.81494	0.4834	L	0.44542	1.39	0.58432	D	0.99999	B;B;B	0.31769	0.339;0.224;0.013	B;B;B	0.24701	0.055;0.055;0.006	T	0.78863	-0.2036	9	.	.	.	.	14.5659	0.68176	1.0:0.0:0.0:0.0	.	434;412;375	Q5VVW2;B7Z3Q6;Q5VVW4	GARL3_HUMAN;.;.	E	412;434;434	ENSP00000396205:K412E;ENSP00000313970:K434E;ENSP00000362485:K434E	.	K	+	1	0	GARNL3	129146383	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.833000	0.92089	2.113000	0.64589	0.460000	0.39030	AAG		0.423	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293		17	280	0	0	0	1	0	17	280					G	130106562	A	G	130106562	3	3	328	1	0	0	0	0	1	0	0	0	6241	131	5	3	1358	3	GARNL3	9	130106562	Missense_Mutation	SNP	A	TCGA-EM-A3FR-01A-11D-A21Z-08	121372750	130106562	11106869	18	6943											
LRSAM1	90678	broad.mit.edu	37	chr9	130253549	130253549	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagctggagttaaagaggaAgtccctggacacagagtcac	12	9	1	2			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr9:130253549A>G	ENST00000323301.4	+	19	2082	c.1478A>G	c.(1477-1479)aAg>aGg	p.K493R	LRSAM1_ENST00000373322.1_Missense_Mutation_p.K493R|LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373324.4_Intron|LRSAM1_ENST00000300417.6_Missense_Mutation_p.K493R	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	493					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						TTAAAGAGGAAGTCCCTGGAC	0.507																																						ENST00000323301.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						c.(1477-1479)aAg>aGg		leucine rich repeat and sterile alpha motif containing 1							98	100	100					9																	130253549		2203	4300	6503	SO:0001583	missense	90678				negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:130253549A>G	AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"Sterile alpha motif (SAM) domain containing"	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.1478A>G	9.37:g.130253549A>G	ENSP00000322937:p.Lys493Arg					LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373322.1_Missense_Mutation_p.K493R|LRSAM1_ENST00000373324.4_Intron|LRSAM1_ENST00000300417.6_Missense_Mutation_p.K493R	p.K493R	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN			19	2082	+			493					Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Missense_Mutation	SNP	ENST00000323301.4	37	c.1478A>G	CCDS6873.1	.	.	.	.	.	.	.	.	.	.	A	11.32	1.603293	0.28534	.	.	ENSG00000148356	ENST00000300417;ENST00000323301;ENST00000373322	T;T;T	0.33865	1.39;1.39;1.39	5.49	5.49	0.81192	.	0.106321	0.64402	D	0.000006	T	0.17066	0.0410	N	0.11064	0.09	0.31790	N	0.629758	P	0.39060	0.657	B	0.35182	0.197	T	0.12502	-1.0545	10	0.02654	T	1	-25.1647	13.838	0.63421	1.0:0.0:0.0:0.0	.	493	Q6UWE0	LRSM1_HUMAN	R	493	ENSP00000300417:K493R;ENSP00000322937:K493R;ENSP00000362419:K493R	ENSP00000300417:K493R	K	+	2	0	LRSAM1	129293370	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.062000	0.57492	2.212000	0.71576	0.533000	0.62120	AAG		0.507	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054164.1	NM_138361		4	75	0	0	0	1	0	4	75					G	130253549	A	G	130253549	3	3	328	1	0	0	0	0	1	0	0	0	9043	72	3	3	1548	3	LRSAM1	9	130253549	Missense_Mutation	SNP	A	TCGA-EM-A3FR-01A-11D-A21Z-08	146987	130253549	10959882	19	6944											
GAD2	2572	broad.mit.edu	37	chr10	26508106	26508106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttccattatcctaatgagCttctccaagaatataattgg	5	8	1	2			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr10:26508106C>T	ENST00000376261.3	+	4	924	c.421C>T	c.(421-423)Ctt>Ttt	p.L141F	GAD2_ENST00000259271.3_Missense_Mutation_p.L141F|GAD2_ENST00000376248.1_Missense_Mutation_p.L27F	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	141					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCCTAATGAGCTTCTCCAAGA	0.343																																						ENST00000376261.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(421-423)Ctt>Ttt		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	L-Glutamic Acid(DB00142)						104	109	107					10																	26508106		2203	4300	6503	SO:0001583	missense	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26508106C>T	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.421C>T	10.37:g.26508106C>T	ENSP00000365437:p.Leu141Phe					GAD2_ENST00000259271.3_Missense_Mutation_p.L141F|GAD2_ENST00000376248.1_Missense_Mutation_p.L27F	p.L141F	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN			4	924	+			141					Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	c.421C>T	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408473	0.83340	.	.	ENSG00000136750	ENST00000376261;ENST00000259271;ENST00000428517;ENST00000376248	T;T;T;T	0.60797	0.82;0.82;0.16;0.82	5.61	5.61	0.85477	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.80232	0.4585	M	0.85945	2.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.82843	-0.0257	10	0.87932	D	0	-15.3197	19.6436	0.95767	0.0:1.0:0.0:0.0	.	141;141	Q4G154;Q05329	.;DCE2_HUMAN	F	141;141;141;27	ENSP00000365437:L141F;ENSP00000259271:L141F;ENSP00000390434:L141F;ENSP00000365424:L27F	ENSP00000259271:L141F	L	+	1	0	GAD2	26548112	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.792000	0.55476	2.621000	0.88768	0.650000	0.86243	CTT		0.343	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		20	174	0	0	0	1	0	20	174					T	26508106	C	T	26508106	3	4	328	1	0	0	0	0	1	0	0	0	6180	797	28	2	435	2	GAD2	10	26508106	Missense_Mutation	SNP	C	TCGA-EM-A3FR-01A-11D-A21Z-08		26508106	109026641	20	6945											
OR52E6	390078	broad.mit.edu	37	chr11	5862898	5862898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattttgggaatggtggccGtagacaagctcaggtcaatg	14	7	2	1	rs139412237	byFrequency	TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr11:5862898G>A	ENST00000329322.5	-	1	229	c.230C>T	c.(229-231)aCg>aTg	p.T77M	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.T81M	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	77						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(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATGGTGGCCGTAGACAAGCT	0.448													G|||	4	0.000798722	0.0015	0	5008	,	,		22537	0.001		0.001	False		,,,				2504	0					ENST00000329322.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(229-231)aCg>aTg		olfactory receptor, family 52, subfamily E, member 6							125	124	124					11																	5862898		2201	4296	6497	SO:0001583	missense	390078				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5862898G>A	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"GPCR / Class A : Olfactory receptors"	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.230C>T	11.37:g.5862898G>A	ENSP00000328878:p.Thr77Met					TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.T81M	p.T77M	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	229	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	77					Q6IFF8	Missense_Mutation	SNP	ENST00000329322.5	37	c.230C>T	CCDS53597.1	5	0.0022893772893772895	3	0.006097560975609756	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	G	12.95	2.090599	0.36855	.	.	ENSG00000205409	ENST00000329322;ENST00000379946	T;T	0.05139	3.49;3.49	3.64	2.72	0.32119	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000020	T	0.15652	0.0377	M	0.87900	2.915	0.09310	N	1	D	0.89917	1.0	D	0.76071	0.987	T	0.08027	-1.0742	10	0.87932	D	0	.	3.1487	0.06480	0.2268:0.0:0.5619:0.2113	.	77	Q96RD3	O52E6_HUMAN	M	77;81	ENSP00000328878:T77M;ENSP00000369279:T81M	ENSP00000328878:T77M	T	-	2	0	OR52E6	5819474	0.104000	0.21937	0.003000	0.11579	0.813000	0.45954	2.378000	0.44309	0.732000	0.32470	0.551000	0.68910	ACG		0.448	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167		4	191	0	0	0	1	0	4	191					A	5862898	G	A	5862898	3	1	328	1	0	0	0	0	1	0	0	0	11117	1145	40	1	713	1	OR52E6	11	5862898	Missense_Mutation	SNP	G	TCGA-EM-A3FR-01A-11D-A21Z-08		5862898	129143618	21	6946											
TTC36	143941	broad.mit.edu	37	chr11	118398234	118398234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactccaaatgatcaggcaGtgctgcaggccatcttcaac	10	12	3	1			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr11:118398234G>A	ENST00000302783.4	+	1	48	c.25G>A	c.(25-27)Gtg>Atg	p.V9M	RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000528578.1_RNA|TTC36_ENST00000539546.1_5'UTR	NM_001080441.1	NP_001073910.1	A6NLP5	TTC36_HUMAN	tetratricopeptide repeat domain 36	9										lung(2)	2						TGATCAGGCAGTGCTGCAGGC	0.537																																						ENST00000302783.4																			0				lung(2)	2						c.(25-27)Gtg>Atg		tetratricopeptide repeat domain 36							174	170	171					11																	118398234		2200	4295	6495	SO:0001583	missense	143941						binding	g.chr11:118398234G>A	EU489483	CCDS31687.1	11q23.3	2013-01-10			ENSG00000172425	ENSG00000172425		"Tetratricopeptide (TTC) repeat domain containing"	33708	protein-coding gene	gene with protein product	"HSP70 binding protein 21"						Standard	NM_001080441		Approved	HBP21	uc001ptg.1	A6NLP5	OTTHUMG00000166338	ENST00000302783.4:c.25G>A	11.37:g.118398234G>A	ENSP00000307640:p.Val9Met					RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000554407.1_RNA|TTC36_ENST00000539546.1_5'UTR|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000528578.1_RNA|RP11-770J1.3_ENST00000532597.1_RNA	p.V9M	NM_001080441.1	NP_001073910.1	A6NLP5	TTC36_HUMAN			1	48	+			9					B7ZW72|B9EJD8	Missense_Mutation	SNP	ENST00000302783.4	37	c.25G>A	CCDS31687.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.998718	0.93227	.	.	ENSG00000172425	ENST00000302783	T	0.53206	0.63	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.71134	0.3304	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73288	-0.4030	10	0.87932	D	0	-23.6162	19.7782	0.96405	0.0:0.0:1.0:0.0	.	9	A6NLP5	TTC36_HUMAN	M	9	ENSP00000307640:V9M	ENSP00000307640:V9M	V	+	1	0	TTC36	117903444	1.000000	0.71417	0.930000	0.37139	0.858000	0.48976	7.505000	0.81655	2.676000	0.91093	0.563000	0.77884	GTG		0.537	TTC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389241.2	NM_001080441		4	285	0	0	0	1	0	4	285					A	118398234	G	A	118398234	3	1	328	1	0	0	0	0	1	0	0	0	16701	1029	36	2	27	2	TTC36	11	118398234	Missense_Mutation	SNP	G	TCGA-EM-A3FR-01A-11D-A21Z-08	112535336	118398234	16608282	22	6947											
FMNL3	91010	broad.mit.edu	37	chr12	50050234	50050234	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgatttcgtgacctcctcGcaccaaacacacagctgcca	7	15	0	2			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr12:50050234G>A	ENST00000293590.5	-	9	1071	c.838C>T	c.(838-840)Cga>Tga	p.R280*	FMNL3_ENST00000352151.5_Nonsense_Mutation_p.R229*|FMNL3_ENST00000335154.5_Nonsense_Mutation_p.R280*|FMNL3_ENST00000550488.1_Nonsense_Mutation_p.R280*			Q8IVF7	FMNL3_HUMAN	formin-like 3	280	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TGACCTCCTCGCACCAAACAC	0.507																																						ENST00000335154.5																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						c.(838-840)Cga>Tga		formin-like 3							76	77	77					12																	50050234		2043	4228	6271	SO:0001587	stop_gained	91010				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr12:50050234G>A	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.838C>T	12.37:g.50050234G>A	ENSP00000293590:p.Arg280*					FMNL3_ENST00000550488.1_Nonsense_Mutation_p.R280*|FMNL3_ENST00000293590.5_Nonsense_Mutation_p.R280*|FMNL3_ENST00000352151.5_Nonsense_Mutation_p.R229*	p.R280*	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN			9	1071	-			280			GBD/FH3.		B0JZA7|Q6ZRJ1	Nonsense_Mutation	SNP	ENST00000293590.5	37	c.838C>T		.	.	.	.	.	.	.	.	.	.	G	33	5.264890	0.95399	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	.	.	.	5.44	4.5	0.54988	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3473	0.60582	0.0:0.0:0.7491:0.2509	.	.	.	.	X	280;280;229;280	.	ENSP00000293590:R280X	R	-	1	2	FMNL3	48336501	0.319000	0.24607	1.000000	0.80357	0.998000	0.95712	0.674000	0.25218	2.732000	0.93576	0.655000	0.94253	CGA		0.507	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		3	52	0	0	0	1	0	3	52					A	50050234	G	A	50050234	4	1	328	1	0	0	0	0	0	1	0	0	5953	1095	38	1	2317	1	FMNL3	12	50050234	Nonsense_Mutation	SNP	G	TCGA-EM-A3FR-01A-11D-A21Z-08		50050234	83801661	23	6948											
EIF2AK4	440275	broad.mit.edu	37	chr15	40268678	40268678	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccccatcaacccggccagcCggcagttccgcaggatcaag	10	17	2	0			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr15:40268678C>A	ENST00000263791.5	+	12	1925	c.1882C>A	c.(1882-1884)Cgg>Agg	p.R628R	EIF2AK4_ENST00000382727.2_Silent_p.R628R	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	628	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CCCGGCCAGCCGGCAGTTCCG	0.632																																						ENST00000263791.5																			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40						c.(1882-1884)Cgg>Agg		eukaryotic translation initiation factor 2 alpha kinase 4							30	32	32					15																	40268678		2077	4217	6294	SO:0001819	synonymous_variant	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40268678C>A	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.1882C>A	15.37:g.40268678C>A						EIF2AK4_ENST00000382727.2_Silent_p.R628R	p.R628R	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	12	1925	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	628			Protein kinase 2.		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Silent	SNP	ENST00000263791.5	37	c.1882C>A	CCDS42016.1																																																																																				0.632	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			3	79	1	0	1	1	1	3	79					A	40268678	C	A	40268678	2	1	328	1	0	0	0	0	0	0	0	1	4999	643	23	4		4	EIF2AK4	15	40268678	Silent	SNP	C	TCGA-EM-A3FR-01A-11D-A21Z-08		40268678	62262714	24	6949											
MYH10	4628	broad.mit.edu	37	chr17	8415820	8415822	+	In_Frame_Del	DEL	TTC	TTC	-													ttttggaggatttggtttctTtcttcttcttcttcaaccct							TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr17:8415820_8415822delTTC	ENST00000269243.4	-	22	2944_2946	c.2806_2808delGAA	c.(2806-2808)gaadel	p.E936del	MYH10_ENST00000379980.4_In_Frame_Del_p.E952del|MYH10_ENST00000360416.3_In_Frame_Del_p.E967del|RNU7-43P_ENST00000516554.1_RNA|MYH10_ENST00000396239.1_In_Frame_Del_p.E957del	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	936					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTTGGTTTCTTTCTTCTTCTTCT	0.35																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(2899-2901)del		myosin, heavy chain 10, non-muscle																																				SO:0001651	inframe_deletion	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8415820_8415822delTTC	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.2806_2808delGAA	17.37:g.8415829_8415831delTTC	ENSP00000269243:p.Glu936del					MYH10_ENST00000396239.1_In_Frame_Del_p.E957del|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del|MYH10_ENST00000269243.4_In_Frame_Del_p.E936del	p.E967del	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			24	3037_3039	-			936					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	In_Frame_Del	DEL	ENST00000269243.4	37	c.2899_2901delGAA	CCDS11144.1																																																																																				0.35	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			7	131						7	131	---	---	---	---	-	8415822	TTC	-	8415820	7	5	328	1	0	1	0	1	0	0	0	0	10030	1838	64	0	3202	0	MYH10	17	8415820	In_Frame_Del	DEL	TTC	TCGA-EM-A3FR-01A-11D-A21Z-08		8415820	72779390	25	6950											
FMNL1	752	broad.mit.edu	37	chr17	43311541	43311541	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggtccaccctcctccgtGcccaaaagccgccacctgac	8	19	0	1			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr17:43311541G>A	ENST00000331495.3	+	6	924	c.588G>A	c.(586-588)gtG>gtA	p.V196V	FMNL1_ENST00000592006.1_3'UTR|FMNL1_ENST00000328118.3_Silent_p.V196V	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	196	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						CCTCCTCCGTGCCCAAAAGCC	0.572																																					GBM(164;1247 1997 8702 11086 51972)	ENST00000331495.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						c.(586-588)gtG>gtA		formin-like 1							63	67	66					17																	43311541		2203	4300	6503	SO:0001819	synonymous_variant	752				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr17:43311541G>A	AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"formin-like"	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.588G>A	17.37:g.43311541G>A						FMNL1_ENST00000592006.1_3'UTR|FMNL1_ENST00000328118.3_Silent_p.V196V	p.V196V	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN			6	924	+			196			GBD/FH3.		D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Silent	SNP	ENST00000331495.3	37	c.588G>A	CCDS11497.1																																																																																				0.572	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892		44	66	0	0	0	1	0	44	66					A	43311541	G	A	43311541	2	1	328	1	0	0	0	0	0	0	0	1	5951	1306	46	2		2	FMNL1	17	43311541	Silent	SNP	G	TCGA-EM-A3FR-01A-11D-A21Z-08	34895721	43311541	37883669	26	6951											
SPOP	8405	broad.mit.edu	37	chr17	47696667	47696667	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgcccgaacttcactctttGgacagctgaccagtaacagg	9	12	2	1			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr17:47696667G>C	ENST00000393328.2	-	5	646	c.281C>G	c.(280-282)cCa>cGa	p.P94R	SPOP_ENST00000347630.2_Missense_Mutation_p.P94R|SPOP_ENST00000503676.1_Missense_Mutation_p.P94R|SPOP_ENST00000393331.3_Missense_Mutation_p.P94R|SPOP_ENST00000504102.1_Missense_Mutation_p.P94R|SPOP_ENST00000513080.1_5'Flank	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	94	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTCACTCTTTGGACAGCTGAC	0.413										Prostate(2;0.17)																												ENST00000393331.3																			0				endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(280-282)cCa>cGa		speckle-type POZ protein							126	118	121					17																	47696667		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696667G>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.281C>G	17.37:g.47696667G>C	ENSP00000377001:p.Pro94Arg	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.P94R|SPOP_ENST00000503676.1_Missense_Mutation_p.P94R|SPOP_ENST00000393328.2_Missense_Mutation_p.P94R|SPOP_ENST00000347630.2_Missense_Mutation_p.P94R	p.P94R	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			6	751	-			94			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.281C>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187912	0.57909	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508	T;T;T;T;T;T;T;T;T;T	0.64438	1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08;-0.1	5.52	5.52	0.82312	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.62950	0.2470	L	0.49571	1.57	0.80722	D	1	P	0.47484	0.896	P	0.46237	0.508	T	0.56547	-0.7961	10	0.18710	T	0.47	-2.4743	19.2223	0.93803	0.0:0.0:1.0:0.0	.	94	O43791	SPOP_HUMAN	R	94;94;94;94;94;47;94;94;94;94;94	ENSP00000377001:P94R;ENSP00000377004:P94R;ENSP00000240327:P94R;ENSP00000425905:P94R;ENSP00000420908:P94R;ENSP00000426986:P94R;ENSP00000420960:P94R;ENSP00000426262:P94R;ENSP00000424119:P94R;ENSP00000426537:P94R	ENSP00000240327:P94R	P	-	2	0	SPOP	45051666	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.652000	0.98499	2.873000	0.98535	0.563000	0.77884	CCA		0.413	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		45	89	0	0	0	1	0	45	89					C	47696667	G	C	47696667	3	2	328	1	0	0	0	0	1	0	0	0	15083	1348	47	4	871	4	SPOP	17	47696667	Missense_Mutation	SNP	G	TCGA-EM-A3FR-01A-11D-A21Z-08	4385126	47696667	33498543	27	6952											
FASN	2194	broad.mit.edu	37	chr17	80043235	80043235	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaaggacttcttcaggcccAccaggcgcagcgacaccctg	11	15	2	1			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr17:80043235A>T	ENST00000306749.2	-	24	4384	c.4166T>A	c.(4165-4167)gTg>gAg	p.V1389E	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1389					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)	CTTCAGGCCCACCAGGCGCAG	0.701																																					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.(4165-4167)gTg>gAg		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						18	25	23					17																	80043235		2181	4280	6461	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.chr17:80043235A>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.4166T>A	17.37:g.80043235A>T	ENSP00000304592:p.Val1389Glu						p.V1389E	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		24	4384	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		1389					Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	c.4166T>A	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.505049	0.85282	.	.	ENSG00000169710	ENST00000306749;ENST00000545909	T	0.10573	2.86	4.49	4.49	0.54785	.	0.073236	0.53938	D	0.000042	T	0.33876	0.0878	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.21930	-1.0231	10	0.87932	D	0	-29.7612	14.0429	0.64687	1.0:0.0:0.0:0.0	.	1389	P49327	FAS_HUMAN	E	1389;354	ENSP00000304592:V1389E	ENSP00000304592:V1389E	V	-	2	0	FASN	77636524	1.000000	0.71417	0.997000	0.53966	0.828000	0.46876	8.907000	0.92634	1.772000	0.52199	0.379000	0.24179	GTG		0.701	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		6	15	0	0	0	1	0	6	15					T	80043235	A	T	80043235	3	4	328	1	0	0	0	0	1	0	0	0	5683	159	6	5	3449	5	FASN	17	80043235	Missense_Mutation	SNP	A	TCGA-EM-A3FR-01A-11D-A21Z-08	32346568	80043235	1151975	28	6953											
MUC16	94025	broad.mit.edu	37	chr19	9074980	9074980	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggaagaggaagagctggTttcttccacagagggagggc	17	7	1	3			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr19:9074980T>C	ENST00000397910.4	-	3	12669	c.12466A>G	c.(12466-12468)Acc>Gcc	p.T4156A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4158	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGAGCTGGTTTCTTCCACA	0.493																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(12466-12468)Acc>Gcc		mucin 16, cell surface associated							163	150	154					19																	9074980		1985	4168	6153	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9074980T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.12466A>G	19.37:g.9074980T>C	ENSP00000381008:p.Thr4156Ala						p.T4156A	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	12669	-			4158			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.12466A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	6.676	0.493274	0.12702	.	.	ENSG00000181143	ENST00000397910	T	0.25085	1.82	1.6	-0.615	0.11587	.	.	.	.	.	T	0.21427	0.0516	L	0.55481	1.735	.	.	.	B	0.19817	0.039	B	0.22753	0.041	T	0.26467	-1.0102	8	0.87932	D	0	.	4.216	0.10535	0.0:0.431:0.0:0.569	.	4156	B5ME49	.	A	4156	ENSP00000381008:T4156A	ENSP00000381008:T4156A	T	-	1	0	MUC16	8935980	0.000000	0.05858	0.000000	0.03702	0.490000	0.33462	-0.271000	0.08572	-0.262000	0.09392	0.260000	0.18958	ACC		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		20	104	0	0	0	1	0	20	104					C	9074980	T	C	9074980	3	2	328	1	0	0	0	0	1	0	0	0	9973	1725	60	3	31385	3	MUC16	19	9074980	Missense_Mutation	SNP	T	TCGA-EM-A3FR-01A-11D-A21Z-08		9074980	50054003	29	6954											
SUSD2	56241	broad.mit.edu	37	chr22	24580196	24580196	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgccaacacctcaggcaacCtcagcctgacctggcatgtc	8	18	2	1			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr22:24580196C>A	ENST00000358321.3	+	4	793	c.532C>A	c.(532-534)Ctc>Atc	p.L178I		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	178					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CTCAGGCAACCTCAGCCTGAC	0.597																																						ENST00000358321.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(532-534)Ctc>Atc		sushi domain containing 2							141	103	116					22																	24580196		2203	4300	6503	SO:0001583	missense	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24580196C>A	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.532C>A	22.37:g.24580196C>A	ENSP00000351075:p.Leu178Ile						p.L178I	NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN			4	793	+			178					Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	c.532C>A	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.370478	0.42003	.	.	ENSG00000099994	ENST00000358321	T	0.26223	1.75	3.66	3.66	0.41972	.	0.000000	0.64402	D	0.000002	T	0.48909	0.1526	M	0.77103	2.36	0.47037	D	0.999293	D	0.63880	0.993	D	0.76071	0.987	T	0.47407	-0.9120	10	0.32370	T	0.25	-39.8527	13.3058	0.60351	0.0:1.0:0.0:0.0	.	178	Q9UGT4	SUSD2_HUMAN	I	178	ENSP00000351075:L178I	ENSP00000351075:L178I	L	+	1	0	SUSD2	22910196	0.936000	0.31750	0.868000	0.34077	0.081000	0.17604	1.971000	0.40530	2.067000	0.61834	0.450000	0.29827	CTC		0.597	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		3	87	1	0	1	1	1	3	87					A	24580196	C	A	24580196	3	1	328	1	0	0	0	0	1	0	0	0	15405	681	24	4	546	4	SUSD2	22	24580196	Missense_Mutation	SNP	C	TCGA-EM-A3FR-01A-11D-A21Z-08		24580196	26724370	30	6955											
RBM10	8241	broad.mit.edu	37	chrX	47030582	47030582	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggaggaggaggaGgatgaggaggaggaggagaa	25	0	0	2			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chrX:47030582G>T	ENST00000377604.3	+	4	1099	c.357G>T	c.(355-357)gaG>gaT	p.E119D	RBM10_ENST00000345781.6_Intron|RBM10_ENST00000329236.7_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	119	Poly-Glu.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						aggaggaggaggatgaggagg	0.662																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						c.(355-357)gaG>gaT		RNA binding motif protein 10							20	19	19					X																	47030582		2202	4294	6496	SO:0001583	missense	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47030582G>T	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.357G>T	X.37:g.47030582G>T	ENSP00000366829:p.Glu119Asp					RBM10_ENST00000345781.6_Intron|RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000329236.7_Intron	p.E119D	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN			4	1099	+			119			Poly-Glu.		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	37	c.357G>T	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	7.514	0.655267	0.14580	.	.	ENSG00000182872	ENST00000377604	T	0.11169	2.8	3.1	1.15	0.20763	Nucleotide-binding, alpha-beta plait (1);	0.859005	0.09469	N	0.797951	T	0.04815	0.0130	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.38628	-0.9652	10	0.11182	T	0.66	-1.7872	6.9396	0.24486	0.0:0.0:0.4873:0.5127	.	184;119;119	Q7Z3D7;P98175-2;P98175	.;.;RBM10_HUMAN	D	119	ENSP00000366829:E119D	ENSP00000366829:E119D	E	+	3	2	RBM10	46915526	1.000000	0.71417	0.776000	0.31678	0.914000	0.54420	0.961000	0.29267	0.165000	0.19558	0.502000	0.49764	GAG		0.662	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		4	28	1	0	0.000602214	1	0.000662436	4	28					T	47030582	G	T	47030582	3	4	328	1	0	0	0	0	1	0	0	0	13111	991	35	4	367	4	RBM10	23	47030582	Missense_Mutation	SNP	G	TCGA-EM-A3FR-01A-11D-A21Z-08		47030582	108239978	31	6956											
ITIH5L	347365	broad.mit.edu	37	chrX	54776381	54776381	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcagctctacatgagagcGcttcaccagccagcaggaag	11	12	2	1	rs149644769	byFrequency	TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chrX:54776381G>A	ENST00000218436.6	-	13	3918	c.3889C>T	c.(3889-3891)Cgc>Tgc	p.R1297C		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	1297					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										ACATGAGAGCGCTTCACCAGC	0.577													G|||	2	0.000529801	0.0015	0	3775	,	,		12755	0		0	False		,,,				2504	0					ENST00000218436.6																			0											c.(3889-3891)Cgc>Tgc		inter-alpha-trypsin inhibitor heavy chain family, member 6		G	CYS/ARG	11,3824		0,10,1,1622,570	50	36	41		3889	1.6	0.9	X	dbSNP_134	41	0,6728		0,0,0,2428,1872	yes	missense	ITIH5L	NM_198510.2	180	0,10,1,4050,2442	AA,AG,A,GG,G		0.0,0.2868,0.1041	benign	1297/1314	54776381	11,10552	2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54776381G>A	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.3889C>T	X.37:g.54776381G>A	ENSP00000218436:p.Arg1297Cys						p.R1297C	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN			13	3918	-			1297					A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.3889C>T	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.786780	0.31593	0.002868	0.0	ENSG00000102313	ENST00000218436	T	0.02446	4.29	3.58	1.58	0.23477	.	0.646937	0.14187	U	0.335654	T	0.03827	0.0108	L	0.49778	1.585	0.27356	N	0.956114	B	0.15473	0.013	B	0.04013	0.001	T	0.28235	-1.0050	10	0.52906	T	0.07	.	10.0142	0.42006	0.1377:0.0:0.8623:0.0	.	1297	Q6UXX5	ITH5L_HUMAN	C	1297	ENSP00000218436:R1297C	ENSP00000218436:R1297C	R	-	1	0	ITIH5L	54793106	0.000000	0.05858	0.915000	0.36163	0.957000	0.61999	-0.204000	0.09425	-0.099000	0.12263	0.284000	0.19432	CGC		0.577	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		4	57	0	0	0	1	0	4	57					A	54776381	G	A	54776381	3	1	328	1	0	0	0	0	1	0	0	0	7908	1087	38	1	56	1	ITIH5L	23	54776381	Missense_Mutation	SNP	G	TCGA-EM-A3FR-01A-11D-A21Z-08	7745799	54776381	100494179	32	6957											
SLC9A6	10479	broad.mit.edu	37	chrX	135106617	135106617	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tatttggtggtggcaccactGcaatgctgtcatgcttgcat	11	9	1	0			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chrX:135106617G>C	ENST00000370698.3	+	12	1530	c.1495G>C	c.(1495-1497)Gca>Cca	p.A499P	SLC9A6_ENST00000370695.4_Missense_Mutation_p.A531P|SLC9A6_ENST00000370701.1_Missense_Mutation_p.A479P	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	499					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TGGCACCACTGCAATGCTGTC	0.393																																						ENST00000370695.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(1591-1593)Gca>Cca		solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6							278	204	229					X																	135106617		2203	4300	6503	SO:0001583	missense	10479				regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	g.chrX:135106617G>C	AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"Solute carriers"	11079	protein-coding gene	gene with protein product		300231	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 6", "solute carrier family 9 (sodium/hydrogen exchanger), member 6"			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.1495G>C	X.37:g.135106617G>C	ENSP00000359732:p.Ala499Pro					SLC9A6_ENST00000370698.3_Missense_Mutation_p.A499P|SLC9A6_ENST00000370701.1_Missense_Mutation_p.A479P	p.A531P	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN			12	1626	+	Acute lymphoblastic leukemia(192;0.000127)		499					A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Missense_Mutation	SNP	ENST00000370698.3	37	c.1591G>C	CCDS14654.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.542890	0.27563	.	.	ENSG00000198689	ENST00000370701;ENST00000370698;ENST00000370695	T;T;T	0.11604	2.76;2.76;2.76	5.14	5.14	0.70334	Cation/H+ exchanger (1);	0.172283	0.51477	D	0.000084	T	0.02571	0.0078	N	0.00074	-2.255	0.51012	D	0.999903	B;B	0.06786	0.001;0.0	B;B	0.06405	0.001;0.002	T	0.49934	-0.8886	10	0.23302	T	0.38	.	16.1427	0.81536	0.0:0.0:1.0:0.0	.	531;499	Q92581-2;Q92581	.;SL9A6_HUMAN	P	479;499;531	ENSP00000359735:A479P;ENSP00000359732:A499P;ENSP00000359729:A531P	ENSP00000359729:A531P	A	+	1	0	SLC9A6	134934283	0.997000	0.39634	0.998000	0.56505	0.875000	0.50365	4.794000	0.62482	2.111000	0.64477	0.506000	0.49869	GCA		0.393	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	NM_006359		58	151	0	0	0	1	0	58	151					C	135106617	G	C	135106617	3	2	328	1	0	0	0	0	1	0	0	0	14718	1319	46	4	1637	4	SLC9A6	23	135106617	Missense_Mutation	SNP	G	TCGA-EM-A3FR-01A-11D-A21Z-08	80330236	135106617	20163943	33	6958											
OTUD7B	56957	broad.mit.edu	37	chr1	149943019	149943019	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgtcatcctgccgctggagGatgggtcggggagggcgagt	19	8	1	0			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr1:149943019G>A	ENST00000369135.4	-	3	540	c.246C>T	c.(244-246)atC>atT	p.I82I	OTUD7B_ENST00000479905.1_5'UTR	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	82					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GCCGCTGGAGGATGGGTCGGG	0.532																																						ENST00000369135.3																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(244-246)atC>atT		OTU domain containing 7B							87	86	86					1																	149943019		1898	4119	6017	SO:0001819	synonymous_variant	56957				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	g.chr1:149943019G>A	AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"OTU domain containing"	16683	protein-coding gene	gene with protein product		611748	"zinc finger, A20 domain containing 1", "OTU domain containing 7B"	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.246C>T	1.37:g.149943019G>A						OTUD7B_ENST00000479905.1_5'UTR	p.I82I	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		3	540	-	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		82					B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Silent	SNP	ENST00000369135.4	37	c.246C>T	CCDS41389.1																																																																																				0.532	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205		8	141	0	0	0	1	0	8	141					A	149943019	G	A	149943019	2	1	329	1	0	0	0	0	0	0	0	1	11319	1164	41	2		2	OTUD7B	1	149943019	Silent	SNP	G	TCGA-EM-A3O3-01A-11D-A21Z-08		149943019	99307602	1	6959											
C1orf56	54964	broad.mit.edu	37	chr1	151020356	151020356	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccggcgcgctgctgtgggtCctgctgctgaatctgggtcc	16	13	1	1	rs371135744		TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr1:151020356C>T	ENST00000368926.5	+	1	141	c.33C>T	c.(31-33)gtC>gtT	p.V11V		NM_017860.3	NP_060330.2	Q9BUN1	MENT_HUMAN	chromosome 1 open reading frame 56	11						cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGCTGTGGGTCCTGCTGCTGA	0.697																																					GBM(146;891 3320 6873)	ENST00000368926.5																			0				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						c.(31-33)gtC>gtT		chromosome 1 open reading frame 56							7	9	8					1																	151020356		2099	4168	6267	SO:0001819	synonymous_variant	54964					extracellular region		g.chr1:151020356C>T	BC002469	CCDS980.1	1q21.2	2013-09-20			ENSG00000143443	ENSG00000143443			26045	protein-coding gene	gene with protein product	"methylated in normal thymocytes"					12975309, 22133874	Standard	NM_017860		Approved	FLJ20519, MENT	uc001ewn.3	Q9BUN1	OTTHUMG00000035159	ENST00000368926.5:c.33C>T	1.37:g.151020356C>T							p.V11V	NM_017860.3	NP_060330.2	Q9BUN1	CA056_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		1	141	+	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		11					B2RDU8|Q9NWZ4	Silent	SNP	ENST00000368926.5	37	c.33C>T	CCDS980.1																																																																																				0.697	C1orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085101.1	NM_017860		9	31	0	0	0	1	0	9	31					T	151020356	C	T	151020356	2	4	329	1	0	0	0	0	0	0	0	1	2048	842	30	2		2	C1orf56	1	151020356	Silent	SNP	C	TCGA-EM-A3O3-01A-11D-A21Z-08	1077337	151020356	98230265	2	6960											
CRNN	49860	broad.mit.edu	37	chr1	152382519	152382519	+	Missense_Mutation	SNP	T	T	C													tgaccctgcctgtatctgagTgtgtcctcctgtcacagcct							TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr1:152382519T>C	ENST00000271835.3	-	3	1101	c.1039A>G	c.(1039-1041)Act>Gct	p.T347A	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	347	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTATCTGAGTGTGTCCTCCT	0.592																																						ENST00000271835.3																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1039-1041)Act>Gct		cornulin							234	198	210					1																	152382519		2203	4300	6503	SO:0001583	missense	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382519T>C	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"EF-hand domain containing"	1230	protein-coding gene	gene with protein product		611312	"chromosome 1 open reading frame 10"	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.1039A>G	1.37:g.152382519T>C	ENSP00000271835:p.Thr347Ala					RP1-91G5.3_ENST00000411804.1_RNA	p.T347A	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1101	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		347			Gln-rich.		B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	c.1039A>G	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	T	2.400	-0.337775	0.05278	.	.	ENSG00000143536	ENST00000271835	T	0.04119	3.7	4.83	-9.65	0.00537	.	3.275770	0.00559	N	0.000263	T	0.00468	0.0015	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41556	-0.9502	10	0.13853	T	0.58	.	4.7627	0.13116	0.1864:0.4725:0.0905:0.2506	.	347	Q9UBG3	CRNN_HUMAN	A	347	ENSP00000271835:T347A	ENSP00000271835:T347A	T	-	1	0	CRNN	150649143	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.505000	0.00448	-2.995000	0.00278	-1.994000	0.00447	ACT		0.592	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		9	362	0	0	0	1	0	9	362					C	152382519	T	C	152382519	3	2	329	1	0	0	0	0	1	0	0	0	3892	1696	59	3	452	3	CRNN	1	152382519	Missense_Mutation	SNP	T	TCGA-EM-A3O3-01A-11D-A21Z-08	1362163	152382519	96868102	3	6961	36	2									
CRNN	49860	broad.mit.edu	37	chr1	152382520	152382520	+	Silent	SNP	G	G	A													gaccctgcctgtatctgagtGtgtcctcctgtcacagcctg							TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr1:152382520G>A	ENST00000271835.3	-	3	1100	c.1038C>T	c.(1036-1038)caC>caT	p.H346H	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	346	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTATCTGAGTGTGTCCTCCTG	0.597																																						ENST00000271835.3																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1036-1038)caC>caT		cornulin							234	198	210					1																	152382520		2203	4300	6503	SO:0001819	synonymous_variant	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382520G>A	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"EF-hand domain containing"	1230	protein-coding gene	gene with protein product		611312	"chromosome 1 open reading frame 10"	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.1038C>T	1.37:g.152382520G>A						RP1-91G5.3_ENST00000411804.1_RNA	p.H346H	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1100	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		346			Gln-rich.		B2RE60|Q8N613	Silent	SNP	ENST00000271835.3	37	c.1038C>T	CCDS1010.1																																																																																				0.597	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		8	364	0	0	0	1	0	8	364					A	152382520	G	A	152382520	2	1	329	1	0	0	0	0	0	0	0	1	3892	1368	48	2		2	CRNN	1	152382520	Silent	SNP	G	TCGA-EM-A3O3-01A-11D-A21Z-08	1	152382520	96868101	4	6962	36	2									
SOAT1	6646	broad.mit.edu	37	chr1	179310209	179310209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttatgcttttggcaaatttCctaccgttgtttggacctgg	9	9	0	0			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr1:179310209C>T	ENST00000367619.3	+	7	687	c.544C>T	c.(544-546)Cct>Tct	p.P182S	SOAT1_ENST00000535686.1_5'UTR|SOAT1_ENST00000539888.1_Missense_Mutation_p.P117S|SOAT1_ENST00000540564.1_Missense_Mutation_p.P124S	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	182					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TGGCAAATTTCCTACCGTTGT	0.418																																						ENST00000367619.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20						c.(544-546)Cct>Tct		sterol O-acyltransferase 1	Ezetimibe(DB00973)|Hesperetin(DB01094)						144	134	138					1																	179310209		2203	4300	6503	SO:0001583	missense	6646				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr1:179310209C>T	L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"acyl-Coenzyme A: cholesterol acyltransferase"	102642	"sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.544C>T	1.37:g.179310209C>T	ENSP00000356591:p.Pro182Ser					SOAT1_ENST00000539888.1_Missense_Mutation_p.P117S|SOAT1_ENST00000540564.1_Missense_Mutation_p.P124S|SOAT1_ENST00000535686.1_5'UTR	p.P182S	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN			7	687	+			182					A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Missense_Mutation	SNP	ENST00000367619.3	37	c.544C>T	CCDS1330.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.610549	0.28712	.	.	ENSG00000057252	ENST00000539888;ENST00000540564;ENST00000367619;ENST00000426956	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	5.96	0.762	0.18454	.	0.191758	0.56097	N	0.000023	T	0.12347	0.0300	L	0.39566	1.225	0.80722	D	1	B;B	0.18013	0.003;0.025	B;B	0.24269	0.021;0.052	T	0.21245	-1.0251	10	0.07813	T	0.8	-14.7085	5.0192	0.14352	0.264:0.528:0.0:0.208	.	124;182	A8K3P4;P35610	.;SOAT1_HUMAN	S	117;124;182;182	ENSP00000441356:P117S;ENSP00000445315:P124S;ENSP00000356591:P182S;ENSP00000411309:P182S	ENSP00000356591:P182S	P	+	1	0	SOAT1	177576832	0.002000	0.14202	0.000000	0.03702	0.975000	0.68041	0.435000	0.21510	-0.102000	0.12197	0.655000	0.94253	CCT		0.418	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2	NM_003101		43	48	0	0	0	1	0	43	48					T	179310209	C	T	179310209	3	4	329	1	0	0	0	0	1	0	0	0	14910	855	30	2	566	2	SOAT1	1	179310209	Missense_Mutation	SNP	C	TCGA-EM-A3O3-01A-11D-A21Z-08	26927689	179310209	69940412	5	6963											
SMG7	9887	broad.mit.edu	37	chr1	183520210	183520210	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtttggcattgattatctctCagcaacgtcatcctctgaga	8	10	4	2			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr1:183520210C>T	ENST00000347615.2	+	21	3304	c.3185C>T	c.(3184-3186)tCa>tTa	p.S1062L	SMG7_ENST00000456731.2_Missense_Mutation_p.S974L|SMG7_ENST00000508461.1_Missense_Mutation_p.S1070L|SMG7_ENST00000367537.3_Missense_Mutation_p.S1095L|SMG7_ENST00000507469.1_Missense_Mutation_p.S1066L|SMG7_ENST00000515829.2_Missense_Mutation_p.S1016L	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	1062					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						GATTATCTCTCAGCAACGTCA	0.517																																						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.(3283-3285)tCa>tTa		SMG7 nonsense mediated mRNA decay factor							81	75	77					1																	183520210		2203	4300	6503	SO:0001583	missense	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.chr1:183520210C>T	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.3185C>T	1.37:g.183520210C>T	ENSP00000340766:p.Ser1062Leu					SMG7_ENST00000456731.2_Missense_Mutation_p.S974L|SMG7_ENST00000347615.2_Missense_Mutation_p.S1062L|SMG7_ENST00000515829.2_Missense_Mutation_p.S1016L|SMG7_ENST00000507469.1_Missense_Mutation_p.S1066L|SMG7_ENST00000508461.1_Missense_Mutation_p.S1070L	p.S1095L			Q92540	SMG7_HUMAN			23	3479	+			1062					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.3284C>T	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.890019	0.72524	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T	0.21734	2.0;2.01;1.99;2.0;1.99;2.0	5.34	5.34	0.76211	.	0.381282	0.26397	N	0.024602	T	0.15912	0.0383	N	0.14661	0.345	0.49213	D	0.999761	B;B;B;B;B	0.27559	0.181;0.023;0.039;0.058;0.181	B;B;B;B;B	0.24155	0.031;0.011;0.047;0.031;0.051	T	0.06409	-1.0828	10	0.48119	T	0.1	-11.0075	19.4086	0.94658	0.0:1.0:0.0:0.0	.	1070;974;1016;1062;1066	E9PCI0;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;SMG7_HUMAN;.	L	974;1095;1070;1062;1066;1016	ENSP00000407629:S974L;ENSP00000356507:S1095L;ENSP00000426915:S1070L;ENSP00000340766:S1062L;ENSP00000425133:S1066L;ENSP00000421358:S1016L	ENSP00000340766:S1062L	S	+	2	0	SMG7	181786833	1.000000	0.71417	0.975000	0.42487	0.885000	0.51271	6.874000	0.75546	2.637000	0.89404	0.650000	0.86243	TCA		0.517	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		16	56	0	0	0	1	0	16	56					T	183520210	C	T	183520210	3	4	329	1	0	0	0	0	1	0	0	0	14798	838	29	2	3421	2	SMG7	1	183520210	Missense_Mutation	SNP	C	TCGA-EM-A3O3-01A-11D-A21Z-08	4210001	183520210	65730411	6	6964											
PRG4	10216	broad.mit.edu	37	chr1	186276548	186276550	+	In_Frame_Del	DEL	AGG	AGG	-													gcctgcacccaccactcccaAggagcctgcacccaccaccc							TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr1:186276548_186276550delAGG	ENST00000445192.2	+	7	1742_1744	c.1697_1699delAGG	c.(1696-1701)aaggag>aag	p.E567del	PRG4_ENST00000367483.4_In_Frame_Del_p.E526del|PRG4_ENST00000367486.3_In_Frame_Del_p.E524del|PRG4_ENST00000367485.4_In_Frame_Del_p.E474del|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	567	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCACTCCCAAGGAGCCTGCACC	0.635																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1696-1701)aag>a		proteoglycan 4																																				SO:0001651	inframe_deletion	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276548_186276550delAGG	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1697_1699delAGG	1.37:g.186276548_186276550delAGG	ENSP00000399679:p.Glu567del					PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_In_Frame_Del_p.KE525del|PRG4_ENST00000367485.4_In_Frame_Del_p.KE473del|PRG4_ENST00000367486.3_In_Frame_Del_p.KE523del	p.KE566del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1742_1744	+			566			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	In_Frame_Del	DEL	ENST00000445192.2	37	c.1697_1699delAGG	CCDS1369.1																																																																																				0.635	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		7	465						7	465	---	---	---	---	-	186276550	AGG	-	186276548	7	5	329	1	0	1	0	1	0	0	0	0	12481	72	3	0	1719	0	PRG4	1	186276548	In_Frame_Del	DEL	AGG	TCGA-EM-A3O3-01A-11D-A21Z-08	2756338	186276548	62974073	7	6965											
DSTYK	25778	broad.mit.edu	37	chr1	205138578	205138578	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctgtaacacctggtgagaaAatgtgctcaagtgtctcagc	10	9	3	1			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr1:205138578A>T	ENST00000367162.3	-	3	1067	c.1037T>A	c.(1036-1038)tTt>tAt	p.F346Y	DSTYK_ENST00000367160.4_Missense_Mutation_p.F346Y|DSTYK_ENST00000367161.3_Missense_Mutation_p.F346Y	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	346					cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						CTGGTGAGAAAATGTGCTCAA	0.522																																						ENST00000367162.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						c.(1036-1038)tTt>tAt		dual serine/threonine and tyrosine protein kinase							95	93	94					1																	205138578		2203	4300	6503	SO:0001583	missense	25778					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:205138578A>T	AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"receptor interacting protein kinase 5"	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.1037T>A	1.37:g.205138578A>T	ENSP00000356130:p.Phe346Tyr					DSTYK_ENST00000367161.3_Missense_Mutation_p.F346Y|DSTYK_ENST00000367160.4_Missense_Mutation_p.F346Y	p.F346Y	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN			3	1067	-			346					B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Missense_Mutation	SNP	ENST00000367162.3	37	c.1037T>A	CCDS1451.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.795664	0.90453	.	.	ENSG00000133059	ENST00000367160;ENST00000367161;ENST00000367162	D;D;D	0.83335	-1.71;-1.66;-1.66	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.90601	0.7053	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	D	0.91753	0.5414	10	0.87932	D	0	-15.9579	15.2544	0.73573	1.0:0.0:0.0:0.0	.	346;346	Q6XUX3-2;Q6XUX3	.;DUSTY_HUMAN	Y	346	ENSP00000356128:F346Y;ENSP00000356129:F346Y;ENSP00000356130:F346Y	ENSP00000356128:F346Y	F	-	2	0	DSTYK	203405201	1.000000	0.71417	0.965000	0.40720	0.941000	0.58515	8.959000	0.93110	2.076000	0.62316	0.533000	0.62120	TTT		0.522	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375		5	101	0	0	0	1	0	5	101					T	205138578	A	T	205138578	3	4	329	1	0	0	0	0	1	0	0	0	4785	14	1	5	1796	5	DSTYK	1	205138578	Missense_Mutation	SNP	A	TCGA-EM-A3O3-01A-11D-A21Z-08	18862030	205138578	44112043	8	6966											
OBSCN	84033	broad.mit.edu	37	chr1	228465534	228465534	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgtagccgaaaatgcagaAtcgcgagcccagctccgagt	11	11	0	1			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr1:228465534A>G	ENST00000422127.1	+	25	6878	c.6834A>G	c.(6832-6834)gaA>gaG	p.E2278E	RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.E2278E|OBSCN_ENST00000570156.2_Silent_p.E2707E|RP5-1139B12.3_ENST00000602947.1_RNA|OBSCN_ENST00000359599.6_Silent_p.E1125E	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2278					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AAAATGCAGAATCGCGAGCCC	0.617																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(8119-8121)gaA>gaG		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							63	64	64					1																	228465534		1905	4122	6027	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228465534A>G	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.6834A>G	1.37:g.228465534A>G						OBSCN_ENST00000284548.11_Silent_p.E2278E|OBSCN_ENST00000422127.1_Silent_p.E2278E|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Silent_p.E1125E|OBSCN_ENST00000366709.4_5'UTR	p.E2707E	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			30	8195	+		Prostate(94;0.0405)	1704			Ig-like 26.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.8121A>G	CCDS58065.1																																																																																				0.617	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		26	195	0	0	0	1	0	26	195					G	228465534	A	G	228465534	2	3	329	1	0	0	0	0	0	0	0	1	10812	98	4	3		3	OBSCN	1	228465534	Silent	SNP	A	TCGA-EM-A3O3-01A-11D-A21Z-08	23326956	228465534	20785087	9	6967											
GULP1	51454	broad.mit.edu	37	chr2	189452645	189452645	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagcagcagatttccctcCagatattcaatcaaaattag	7	9	2	2			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr2:189452645C>T	ENST00000409580.1	+	12	1526	c.812C>T	c.(811-813)cCa>cTa	p.P271L	GULP1_ENST00000359135.3_Missense_Mutation_p.P271L|GULP1_ENST00000409830.1_Missense_Mutation_p.P271L|GULP1_ENST00000409843.1_Missense_Mutation_p.P271L|GULP1_ENST00000409805.1_Missense_Mutation_p.P168L|GULP1_ENST00000409609.1_Missense_Mutation_p.P271L			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1	271					apoptotic process (GO:0006915)|lipid transport (GO:0006869)|phagocytosis, engulfment (GO:0006911)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			GATTTCCCTCCAGATATTCAA	0.358																																					Pancreas(178;563 2065 20199 42378 52815)	ENST00000409580.1																			0				endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13						c.(811-813)cCa>cTa		GULP, engulfment adaptor PTB domain containing 1							90	91	91					2																	189452645		2203	4300	6503	SO:0001583	missense	51454				apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity	g.chr2:189452645C>T	AF191771	CCDS2295.1, CCDS58742.1, CCDS58743.1	2q32.3-q33	2008-02-05			ENSG00000144366	ENSG00000144366			18649	protein-coding gene	gene with protein product		608165				11729193	Standard	NM_001252668		Approved	CED6, CED-6, GULP	uc010fru.3	Q9UBP9	OTTHUMG00000132647	ENST00000409580.1:c.812C>T	2.37:g.189452645C>T	ENSP00000386289:p.Pro271Leu					GULP1_ENST00000409830.1_Missense_Mutation_p.P271L|GULP1_ENST00000359135.3_Missense_Mutation_p.P271L|GULP1_ENST00000409805.1_Missense_Mutation_p.P168L|GULP1_ENST00000409609.1_Missense_Mutation_p.P271L|GULP1_ENST00000409843.1_Missense_Mutation_p.P271L	p.P271L			Q9UBP9	GULP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)		12	1526	+			271					B2RB51|B4DQ40|B8ZZ72|D3DPH1|E9PB86|Q53PC1|Q53RF3|Q9BVL3	Missense_Mutation	SNP	ENST00000409580.1	37	c.812C>T	CCDS2295.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.2|26.2	4.716259|4.716259	0.89205|0.89205	.|.	.|.	ENSG00000144366|ENSG00000144366	ENST00000409843;ENST00000409830;ENST00000409805;ENST00000359135;ENST00000409580;ENST00000409609|ENST00000451191;ENST00000433052	T;T;T;T;T|.	0.59364|.	0.27;0.76;0.76;0.76;0.76|.	5.6|5.6	4.72|4.72	0.59763|0.59763	.|.	0.051277|.	0.85682|.	D|.	0.000000|.	T|.	0.73009|.	0.3532|.	M|M	0.73598|0.73598	2.24|2.24	0.80722|0.80722	D|D	1|1	D;P;D;D|.	0.89917|.	0.999;0.889;1.0;0.993|.	D;B;D;P|.	0.85130|.	0.951;0.399;0.997;0.794|.	T|.	0.73610|.	-0.3928|.	10|.	0.87932|.	D|.	0|.	-7.6992|-7.6992	13.7701|13.7701	0.63019|0.63019	0.0:0.9261:0.0:0.0739|0.0:0.9261:0.0:0.0739	.|.	168;95;271;271|.	E9PB86;Q59EC1;Q9UBP9;B8ZZ72|.	.;.;GULP1_HUMAN;.|.	L|X	271;271;168;271;271;271|96;156	ENSP00000387144:P271L;ENSP00000386732:P271L;ENSP00000352047:P271L;ENSP00000386289:P271L;ENSP00000386867:P271L|.	ENSP00000352047:P271L|.	P|Q	+|+	2|1	0|0	GULP1|GULP1	189160890|189160890	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.487000|7.487000	0.81328|0.81328	1.371000|1.371000	0.46172|0.46172	0.591000|0.591000	0.81541|0.81541	CCA|CAG		0.358	GULP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335722.1	NM_016315		16	33	0	0	0	1	0	16	33					T	189452645	C	T	189452645	3	4	329	1	0	0	0	0	1	0	0	0	6901	594	21	2	846	2	GULP1	2	189452645	Missense_Mutation	SNP	C	TCGA-EM-A3O3-01A-11D-A21Z-08		189452645	53746728	10	6968											
CPS1	1373	broad.mit.edu	37	chr2	211457603	211457603	+	Splice_Site	SNP	G	G	A													cctgtttcttattcctttagGggattatgcatgagagcaaa							TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr2:211457603G>A	ENST00000233072.5	+	11	1283	c.1087G>A	c.(1087-1089)Ggg>Agg	p.G363R	CPS1_ENST00000430249.2_Splice_Site_p.G369R|CPS1_ENST00000451903.2_5'Flank	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	363	Glutamine amidotransferase type-1.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	ATTCCTTTAGGGGATTATGCA	0.423																																						ENST00000233072.5																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.e11-1		carbamoyl-phosphate synthase 1, mitochondrial							125	133	130					2																	211457603		2203	4300	6503	SO:0001630	splice_region_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211457603G>A	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.1087-1G>A	2.37:g.211457603G>A						CPS1_ENST00000430249.2_Splice_Site_p.G369_splice	p.G363_splice	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	11	1283	+			363			Glutamine amidotransferase type-1.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Splice_Site	SNP	ENST00000233072.5	37	c.1086_splice	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284650	0.80803	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000536125	D;D	0.91894	-2.93;-2.93	5.91	5.91	0.95273	Glutamine amidotransferase type 1 (2);	0.000000	0.85682	D	0.000000	D	0.97857	0.9296	H	0.97340	3.985	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98494	1.0611	9	.	.	.	0.8106	20.2885	0.98538	0.0:0.0:1.0:0.0	.	373;363	Q59HF8;P31327	.;CPSM_HUMAN	R	369;371;363;363	ENSP00000402608:G369R;ENSP00000233072:G363R	.	G	+	1	0	CPS1	211165848	1.000000	0.71417	0.998000	0.56505	0.543000	0.35085	9.444000	0.97578	2.791000	0.96007	0.650000	0.86243	GGG		0.423	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		Missense_Mutation	26	58	0	0	0	1	0	26	58					A	211457603	G	A	211457603	5	1	329	1	0	0	0	0	0	0	1	0	3823	1246	43	2	1151	2	CPS1	2	211457603	Splice_Site	SNP	G	TCGA-EM-A3O3-01A-11D-A21Z-08	22004958	211457603	31741770	11	6969	37	2									
CPS1	1373	broad.mit.edu	37	chr2	211457604	211457604	+	Splice_Site	SNP	G	G	A													ctgtttcttattcctttaggGgattatgcatgagagcaaac							TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr2:211457604G>A	ENST00000233072.5	+	11	1284	c.1088G>A	c.(1087-1089)gGg>gAg	p.G363E	CPS1_ENST00000430249.2_Splice_Site_p.G369E|CPS1_ENST00000451903.2_5'Flank	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	363	Glutamine amidotransferase type-1.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TTCCTTTAGGGGATTATGCAT	0.423																																						ENST00000233072.5																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.e11-1		carbamoyl-phosphate synthase 1, mitochondrial							126	134	131					2																	211457604		2203	4300	6503	SO:0001630	splice_region_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211457604G>A	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.1087-1G>A	2.37:g.211457604G>A						CPS1_ENST00000430249.2_Splice_Site_p.G369_splice	p.G363_splice	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	11	1284	+			363			Glutamine amidotransferase type-1.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Splice_Site	SNP	ENST00000233072.5	37	c.1086_splice	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.237381	0.79800	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000536125	D;D	0.91894	-2.93;-2.93	5.91	5.91	0.95273	Glutamine amidotransferase type 1 (2);	0.000000	0.85682	D	0.000000	D	0.98102	0.9374	H	0.98786	4.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98905	1.0778	10	0.87932	D	0	0.8106	20.2885	0.98538	0.0:0.0:1.0:0.0	.	373;363	Q59HF8;P31327	.;CPSM_HUMAN	E	369;371;363;363	ENSP00000402608:G369E;ENSP00000233072:G363E	ENSP00000233072:G363E	G	+	2	0	CPS1	211165849	1.000000	0.71417	0.997000	0.53966	0.558000	0.35554	9.444000	0.97578	2.791000	0.96007	0.650000	0.86243	GGG		0.423	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		Missense_Mutation	27	59	0	0	0	1	0	27	59					A	211457604	G	A	211457604	5	1	329	1	0	0	0	0	0	0	1	0	3823	1246	43	2	1152	2	CPS1	2	211457604	Splice_Site	SNP	G	TCGA-EM-A3O3-01A-11D-A21Z-08	1	211457604	31741769	12	6970	37	2									
CASP6	839	broad.mit.edu	37	chr4	110617580	110617580	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acctaccctcatgaattttgAgcagtagttcttctgcttta	6	10	3	2			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr4:110617580A>T	ENST00000265164.2	-	4	370	c.293T>A	c.(292-294)cTc>cAc	p.L98H	CASP6_ENST00000352981.3_Intron|CASP6_ENST00000510324.1_5'Flank|CASP6_ENST00000505486.1_Intron	NM_001226.3	NP_001217.2	P55212	CASP6_HUMAN	caspase 6, apoptosis-related cysteine peptidase	98					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|epithelial cell differentiation (GO:0030855)|proteolysis (GO:0006508)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000171)		ATGAATTTTGAGCAGTAGTTC	0.328																																						ENST00000265164.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(292-294)cTc>cAc		caspase 6, apoptosis-related cysteine peptidase							94	89	90					4																	110617580		2200	4300	6500	SO:0001583	missense	839				cellular component disassembly involved in apoptosis|induction of apoptosis|proteolysis	cytosol|nucleoplasm	cysteine-type endopeptidase activity|protein binding	g.chr4:110617580A>T	U20536	CCDS3684.1, CCDS3685.1	4q25	2008-02-05	2005-08-17		ENSG00000138794	ENSG00000138794		"Caspases"	1507	protein-coding gene	gene with protein product		601532	"caspase 6, apoptosis-related cysteine protease"			8780721, 7796396	Standard	XM_005263271		Approved	MCH2	uc003hzn.1	P55212	OTTHUMG00000131914	ENST00000265164.2:c.293T>A	4.37:g.110617580A>T	ENSP00000265164:p.Leu98His					CASP6_ENST00000352981.3_Intron|CASP6_ENST00000505486.1_Intron	p.L98H	NM_001226.3	NP_001217.2	P55212	CASP6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000171)	4	370	-		Hepatocellular(203;0.217)	98					Q9BQE7	Missense_Mutation	SNP	ENST00000265164.2	37	c.293T>A	CCDS3684.1	.	.	.	.	.	.	.	.	.	.	A	11.22	1.575344	0.28092	.	.	ENSG00000138794	ENST00000265164;ENST00000503684	T;T	0.20598	2.06;2.06	5.83	-0.0616	0.13784	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	1.132410	0.06319	N	0.704108	T	0.16041	0.0386	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.34675	-0.9819	10	0.46703	T	0.11	.	6.125	0.20174	0.3781:0.2184:0.0:0.4036	.	98	P55212	CASP6_HUMAN	H	98;80	ENSP00000265164:L98H;ENSP00000427669:L80H	ENSP00000265164:L98H	L	-	2	0	CASP6	110837029	0.000000	0.05858	0.877000	0.34402	0.968000	0.65278	0.272000	0.18644	0.073000	0.16731	-0.323000	0.08544	CTC		0.328	CASP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254866.1	NM_001226		13	15	0	0	0	1	0	13	15					T	110617580	A	T	110617580	3	4	329	1	0	0	0	0	1	0	0	0	2675	304	11	5	604	5	CASP6	4	110617580	Missense_Mutation	SNP	A	TCGA-EM-A3O3-01A-11D-A21Z-08		110617580	80536696	13	6971											
BDP1	55814	broad.mit.edu	37	chr5	70800541	70800541	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgattcttttcaaaatgtgCagccagatgagcccaaggtt	9	8	2	3			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr5:70800541C>T	ENST00000358731.4	+	16	2598	c.2335C>T	c.(2335-2337)Cag>Tag	p.Q779*	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	779					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TCAAAATGTGCAGCCAGATGA	0.333																																						ENST00000358731.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2335-2337)Cag>Tag		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB							93	85	87					5																	70800541		1835	4092	5927	SO:0001587	stop_gained	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70800541C>T	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.2335C>T	5.37:g.70800541C>T	ENSP00000351575:p.Gln779*					BDP1_ENST00000380675.2_5'UTR	p.Q779*	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	16	2598	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	779					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Nonsense_Mutation	SNP	ENST00000358731.4	37	c.2335C>T	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	C	39	7.546535	0.98352	.	.	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000451951;ENST00000444711	.	.	.	4.67	2.69	0.31865	.	0.588395	0.15316	N	0.268792	.	.	.	.	.	.	0.09310	N	0.999992	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	6.7351	0.23405	0.2193:0.5961:0.1846:0.0	.	.	.	.	X	779;779;359;779	.	ENSP00000351575:Q779X	Q	+	1	0	BDP1	70836297	0.000000	0.05858	0.002000	0.10522	0.058000	0.15608	0.499000	0.22546	1.178000	0.42870	0.650000	0.86243	CAG		0.333	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		11	27	0	0	0	1	0	11	27					T	70800541	C	T	70800541	4	4	329	1	0	0	0	0	0	1	0	0	1395	711	25	2	2397	2	BDP1	5	70800541	Nonsense_Mutation	SNP	C	TCGA-EM-A3O3-01A-11D-A21Z-08		70800541	110114719	14	6972											
HK3	3101	broad.mit.edu	37	chr5	176311066	176311066	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgagtgatggcttcccgcaAcagactcacgacatcttggc	11	13	2	2			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr5:176311066A>G	ENST00000292432.5	-	14	2018	c.1927T>C	c.(1927-1929)Ttg>Ctg	p.L643L		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	643	Catalytic.|Hexokinase type-1 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTTCCCGCAACAGACTCACG	0.577																																						ENST00000292432.5																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1927-1929)Ttg>Ctg		hexokinase 3 (white cell)							153	150	151					5																	176311066		2203	4300	6503	SO:0001819	synonymous_variant	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176311066A>G		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.1927T>C	5.37:g.176311066A>G							p.L643L	NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		14	2018	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	643			Catalytic.		Q8N1E7	Silent	SNP	ENST00000292432.5	37	c.1927T>C	CCDS4407.1																																																																																				0.577	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			47	81	0	0	0	1	0	47	81					G	176311066	A	G	176311066	2	3	329	1	0	0	0	0	0	0	0	1	7192	40	2	3		3	HK3	5	176311066	Silent	SNP	A	TCGA-EM-A3O3-01A-11D-A21Z-08	105510525	176311066	4604194	15	6973											
PKHD1	5314	broad.mit.edu	37	chr6	51921515	51921515	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctcgttcaaatccaagccgGagaaggatgttagaccaaag	10	10	1	2			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr6:51921515G>A	ENST00000371117.3	-	18	1949	c.1674C>T	c.(1672-1674)ctC>ctT	p.L558L	PKHD1_ENST00000340994.4_Silent_p.L558L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	558					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATCCAAGCCGGAGAAGGATGT	0.393																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(1672-1674)ctC>ctT		polycystic kidney and hepatic disease 1 (autosomal recessive)							131	137	135					6																	51921515		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51921515G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.1674C>T	6.37:g.51921515G>A						PKHD1_ENST00000340994.4_Silent_p.L558L	p.L558L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			18	1949	-	Lung NSC(77;0.0605)		558					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.1674C>T	CCDS4935.1																																																																																				0.393	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		24	54	0	0	0	1	0	24	54					A	51921515	G	A	51921515	2	1	329	1	0	0	0	0	0	0	0	1	11971	1161	41	2		2	PKHD1	6	51921515	Silent	SNP	G	TCGA-EM-A3O3-01A-11D-A21Z-08		51921515	119193552	16	6974											
C7orf27	221927	broad.mit.edu	37	chr7	2582951	2582951	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtcggaagaactgaacacGggagaactgcagggagaccc	14	11	0	4			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr7:2582951G>A	ENST00000340611.4	-	6	1066	c.810C>T	c.(808-810)ccC>ccT	p.P270P	BRAT1_ENST00000473879.1_5'Flank	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	270					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						AACTGAACACGGGAGAACTGC	0.627																																						ENST00000340611.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						c.(808-810)ccC>ccT		BRCA1-associated ATM activator 1							33	39	37					7																	2582951		2203	4300	6503	SO:0001819	synonymous_variant	221927				response to ionizing radiation	nucleus	protein binding	g.chr7:2582951G>A	BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"BRCA1-associated protein required for ATM activation protein 1"	614506	"chromosome 7 open reading frame 27"	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.810C>T	7.37:g.2582951G>A							p.P270P	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN			6	1066	-			270					A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Silent	SNP	ENST00000340611.4	37	c.810C>T	CCDS5334.1																																																																																				0.627	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2	NM_152743		28	51	0	0	0	1	0	28	51					A	2582951	G	A	2582951	2	1	329	1	0	0	0	0	0	0	0	1	2382	1103	39	1		1	C7orf27	7	2582951	Silent	SNP	G	TCGA-EM-A3O3-01A-11D-A21Z-08		2582951	156555712	17	6975											
ITGB8	3696	broad.mit.edu	37	chr7	20403260	20403260	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttttctccttcattgcagAagacaatagatgtgcatctt	7	8	3	3			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr7:20403260A>C	ENST00000222573.4	+	2	812	c.128A>C	c.(127-129)gAa>gCa	p.E43A	ITGB8_ENST00000537992.1_5'UTR	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	43					cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TTCATTGCAGAAGACAATAGA	0.368																																						ENST00000222573.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						c.e2-1		integrin, beta 8							60	55	57					7																	20403260		2203	4299	6502	SO:0001630	splice_region_variant	3696				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20403260A>C		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"Integrins"	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.128-1A>C	7.37:g.20403260A>C						ITGB8_ENST00000537992.1_5'UTR	p.E43_splice	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN			2	812	+			43					A4D133|B4DHD4	Splice_Site	SNP	ENST00000222573.4	37	c.127_splice	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	A	5.106	0.205108	0.09704	.	.	ENSG00000105855	ENST00000222573	D	0.89939	-2.59	5.57	5.57	0.84162	.	0.108639	0.39475	N	0.001344	D	0.88020	0.6325	N	0.24115	0.695	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.70935	0.971;0.956	D	0.86094	0.1552	9	.	.	.	.	7.1114	0.25392	0.6813:0.1935:0.0:0.1252	.	43;43	P26012;Q9BUG9	ITB8_HUMAN;.	A	43	ENSP00000222573:E43A	.	E	+	2	0	ITGB8	20369785	1.000000	0.71417	1.000000	0.80357	0.248000	0.25809	1.801000	0.38843	2.119000	0.64992	0.533000	0.62120	GAA		0.368	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214	Missense_Mutation	8	15	0	0	0	1	0	8	15					C	20403260	A	C	20403260	5	2	329	1	0	0	0	0	0	0	1	0	7901	260	9	5	134	5	ITGB8	7	20403260	Splice_Site	SNP	A	TCGA-EM-A3O3-01A-11D-A21Z-08	17820309	20403260	138735403	18	6976											
C7orf57	136288	broad.mit.edu	37	chr7	48086188	48086188	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtttggcaaagagaggctgAggaacttgaaaaggagaaaa	14	3	0	4			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr7:48086188A>C	ENST00000348904.3	+	5	694	c.482A>C	c.(481-483)gAg>gCg	p.E161A	C7orf57_ENST00000539619.1_Missense_Mutation_p.E161A|C7orf57_ENST00000430738.1_Missense_Mutation_p.E206A|C7orf57_ENST00000435376.1_Missense_Mutation_p.E39A|C7orf57_ENST00000420324.1_Missense_Mutation_p.E206A	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	161										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						AGAGAGGCTGAGGAACTTGAA	0.463																																						ENST00000348904.3																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						c.(481-483)gAg>gCg		chromosome 7 open reading frame 57							48	45	46					7																	48086188		1938	4142	6080	SO:0001583	missense	136288							g.chr7:48086188A>C	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.482A>C	7.37:g.48086188A>C	ENSP00000335500:p.Glu161Ala					C7orf57_ENST00000435376.1_Missense_Mutation_p.E39A|C7orf57_ENST00000539619.1_Missense_Mutation_p.E161A|C7orf57_ENST00000420324.1_Missense_Mutation_p.E206A|C7orf57_ENST00000430738.1_Missense_Mutation_p.E206A	p.E161A	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN			5	694	+			161					C9JBJ8	Missense_Mutation	SNP	ENST00000348904.3	37	c.482A>C	CCDS47583.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.343493	0.82022	.	.	ENSG00000164746	ENST00000420324;ENST00000435376;ENST00000430738;ENST00000348904;ENST00000539619	T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58	5.3	5.3	0.74995	.	0.340826	0.30437	N	0.009628	T	0.67961	0.2949	M	0.63428	1.95	0.42777	D	0.993852	D;D	0.76494	0.992;0.999	D;D	0.73380	0.933;0.98	T	0.68796	-0.5314	10	0.44086	T	0.13	-8.7211	13.4853	0.61361	1.0:0.0:0.0:0.0	.	39;161	C9JBJ8;Q8NEG2	.;CG057_HUMAN	A	206;39;206;161;161	ENSP00000394648:E206A;ENSP00000391652:E39A;ENSP00000410944:E206A;ENSP00000335500:E161A;ENSP00000442474:E161A	ENSP00000335500:E161A	E	+	2	0	C7orf57	48052713	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	5.746000	0.68681	2.126000	0.65437	0.459000	0.35465	GAG		0.463	C7orf57-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341745.1	NM_001100159		5	12	0	0	0	1	0	5	12					C	48086188	A	C	48086188	3	2	329	1	0	0	0	0	1	0	0	0	2404	304	11	5	496	5	C7orf57	7	48086188	Missense_Mutation	SNP	A	TCGA-EM-A3O3-01A-11D-A21Z-08	27682928	48086188	111052475	19	6977											
ZAN	7455	broad.mit.edu	37	chr7	100349973	100349973	+	RNA	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaaaaacccaccatccccAcagaaaaacccaccatctcc	2	19	1	2			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr7:100349973A>C	ENST00000348028.3	+	0	2410				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_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)			CACCATCCCCACAGAAAAACC	0.517																																						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)							119	133	129					7																	100349973		1814	4056	5870			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100349973A>C	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.100349973A>C						ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2393	+	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			.	.	.	.	.	.	.	.	.	.	-	9.465	1.094082	0.20471	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.71103	-0.22;-0.54;-0.22	4.31	3.1	0.35709	.	.	.	.	.	T	0.77671	0.4165	L	0.49126	1.545	0.30219	N	0.796961	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.963	T	0.72130	-0.4383	9	0.56958	D	0.05	.	9.4496	0.38719	0.8205:0.1795:0.0:0.0	.	749;749	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	749	ENSP00000445943:T749P;ENSP00000445091:T749P;ENSP00000444427:T749P	ENSP00000423579:T749P	T	+	1	0	ZAN	100187909	0.000000	0.05858	0.030000	0.17652	0.014000	0.08584	0.315000	0.19451	0.720000	0.32209	0.528000	0.53228	ACA		0.517	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		6	147	0	0	0	1	0	6	147					C	100349973	A	C	100349973	1	2	329	0	1	0	0	0	0	0	0	0	17510	159	6	5		5	ZAN	7	100349973	RNA	SNP	A	TCGA-EM-A3O3-01A-11D-A21Z-08	52263785	100349973	58788690	20	6978											
UBN2	254048	broad.mit.edu	37	chr7	138968642	138968642	+	Frame_Shift_Del	DEL	C	C	-													aatggttctcaagggtcccaCcccctggtttctaggacagt							TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr7:138968642delC	ENST00000473989.3	+	15	2991	c.2991delC	c.(2989-2991)cacfs	p.H997fs	UBN2_ENST00000288561.8_Frame_Shift_Del_p.H914fs	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	997	Ser-rich.					extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AAGGGTCCCACCCCCTGGTTT	0.493																																						ENST00000288561.8																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						c.(2740-2742)cafs		ubinuclein 2							80	79	79					7																	138968642		1915	4144	6059	SO:0001589	frameshift_variant	254048							g.chr7:138968642delC	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.2991delC	7.37:g.138968642delC	ENSP00000418648:p.His997fs					UBN2_ENST00000473989.2_Frame_Shift_Del_p.H997fs	p.H914fs	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN			15	2991	+			997			Ser-rich.		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Frame_Shift_Del	DEL	ENST00000473989.3	37	c.2742delC	CCDS43655.2																																																																																				0.493	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		22	45						22	45	---	---	---	---	-	138968642	C	-	138968642	7	5	329	1	0	1	0	1	0	0	0	0	16890	506	18	0	3049	0	UBN2	7	138968642	Frame_Shift_Del	DEL	C	TCGA-EM-A3O3-01A-11D-A21Z-08	38618669	138968642	20170021	21	6979											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		17	32	0	0	0	1	0	17	32					T	140453136	A	T	140453136	3	4	329	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A3O3-01A-11D-A21Z-08	1484494	140453136	18685527	22	6980											
ZMIZ1	57178	broad.mit.edu	37	chr10	81060655	81060655	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acctgaagcacgtgtgccagCcgggccgcaacaccatccag	11	16	0	1			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr10:81060655C>G	ENST00000334512.5	+	17	2547	c.1975C>G	c.(1975-1977)Ccg>Gcg	p.P659A		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	659					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CGTGTGCCAGCCGGGCCGCAA	0.667																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(1975-1977)Ccg>Gcg		zinc finger, MIZ-type containing 1							101	100	100					10																	81060655		2203	4300	6503	SO:0001583	missense	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81060655C>G	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.1975C>G	10.37:g.81060655C>G	ENSP00000334474:p.Pro659Ala						p.P659A	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		17	2547	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		659					Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	c.1975C>G	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906125	0.92107	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347	T	0.35605	1.3	5.32	5.32	0.75619	.	0.000000	0.41396	D	0.000892	T	0.46464	0.1394	L	0.47716	1.5	0.80722	D	1	P	0.51147	0.942	P	0.51918	0.684	T	0.33292	-0.9874	10	0.44086	T	0.13	-15.9962	18.9883	0.92780	0.0:1.0:0.0:0.0	.	659	Q9ULJ6	ZMIZ1_HUMAN	A	659;589;564	ENSP00000334474:P659A	ENSP00000334474:P659A	P	+	1	0	ZMIZ1	80730661	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.447000	0.80620	2.477000	0.83638	0.591000	0.81541	CCG		0.667	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		36	73	0	0	0	1	0	36	73					G	81060655	C	G	81060655	3	3	329	1	0	0	0	0	1	0	0	0	17693	739	26	4	2025	4	ZMIZ1	10	81060655	Missense_Mutation	SNP	C	TCGA-EM-A3O3-01A-11D-A21Z-08		81060655	54474092	23	6981											
ZFYVE27	118813	broad.mit.edu	37	chr10	99498333	99498333	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttttcctaccaagtccccAgcgtttgaccttttcaactt	4	15	1	1			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr10:99498333A>G	ENST00000393677.4	+	2	303	c.99A>G	c.(97-99)ccA>ccG	p.P33P	ZFYVE27_ENST00000359980.3_Silent_p.P33P|ZFYVE27_ENST00000370613.3_Silent_p.P33P|ZFYVE27_ENST00000453958.2_Silent_p.P33P|ZFYVE27_ENST00000370610.3_Intron|ZFYVE27_ENST00000337540.7_Silent_p.P33P|ZFYVE27_ENST00000356257.4_Silent_p.P33P|ZFYVE27_ENST00000357540.4_Silent_p.P33P	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	33					cell death (GO:0008219)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein localization to plasma membrane (GO:0072659)	axon (GO:0030424)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)	metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		CCAAGTCCCCAGCGTTTGACC	0.562																																						ENST00000393677.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(97-99)ccA>ccG		zinc finger, FYVE domain containing 27							129	128	129					10																	99498333		2203	4300	6503	SO:0001819	synonymous_variant	118813				cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding	g.chr10:99498333A>G	BC030621	CCDS31263.1, CCDS31264.1, CCDS53562.1, CCDS53563.1, CCDS53564.1, CCDS53565.1	10q24.2	2013-09-11			ENSG00000155256	ENSG00000155256		"Zinc fingers, FYVE domain containing"	26559	protein-coding gene	gene with protein product	"protrudin"	610243				14702039	Standard	NM_144588		Approved	FLJ32919, SPG33	uc001kol.2	Q5T4F4	OTTHUMG00000018867	ENST00000393677.4:c.99A>G	10.37:g.99498333A>G						ZFYVE27_ENST00000356257.4_Silent_p.P33P|ZFYVE27_ENST00000357540.4_Silent_p.P33P|ZFYVE27_ENST00000359980.3_Silent_p.P33P|ZFYVE27_ENST00000337540.7_Silent_p.P33P|ZFYVE27_ENST00000370613.3_Silent_p.P33P|ZFYVE27_ENST00000453958.2_Silent_p.P33P|ZFYVE27_ENST00000370610.3_Intron	p.P33P	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)	2	303	+		Colorectal(252;0.0846)	33					B7Z3S0|B7Z404|B7Z626|G8JLC3|G8JLF0|J3KP98|Q5T4F1|Q5T4F2|Q5T4F3|Q8N1K0|Q8N6D6|Q8NCA0|Q8NDE4|Q96M08	Silent	SNP	ENST00000393677.4	37	c.99A>G	CCDS31263.1																																																																																				0.562	ZFYVE27-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049745.2	NM_144588		28	60	0	0	0	1	0	28	60					G	99498333	A	G	99498333	2	3	329	1	0	0	0	0	0	0	0	1	17666	175	7	3		3	ZFYVE27	10	99498333	Silent	SNP	A	TCGA-EM-A3O3-01A-11D-A21Z-08	18437678	99498333	36036414	24	6982											
PDCD4	27250	broad.mit.edu	37	chr10	112649373	112649373	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagttacaaaggaactgtagAttgtgtgcaggctaggtaag	13	4	0	1			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr10:112649373A>G	ENST00000280154.7	+	7	1134	c.860A>G	c.(859-861)gAt>gGt	p.D287G	PDCD4_ENST00000393104.2_Missense_Mutation_p.D276G|PDCD4_ENST00000481353.1_3'UTR	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	287					apoptotic process (GO:0006915)|cell aging (GO:0007569)|negative regulation of cell cycle (GO:0045786)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GGAACTGTAGATTGTGTGCAG	0.338																																					Ovarian(115;1498 1603 9363 40056 40885)	ENST00000393104.2																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13						c.(826-828)gAt>gGt		programmed cell death 4 (neoplastic transformation inhibitor)							162	178	173					10																	112649373		2203	4298	6501	SO:0001583	missense	27250				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding	g.chr10:112649373A>G	U83908	CCDS7567.1, CCDS44478.1	10q24	2008-08-01			ENSG00000150593	ENSG00000150593			8763	protein-coding gene	gene with protein product	"nuclear antigen H731"	608610				9759869	Standard	NM_014456		Approved	H731	uc001kzh.3	Q53EL6	OTTHUMG00000019048	ENST00000280154.7:c.860A>G	10.37:g.112649373A>G	ENSP00000280154:p.Asp287Gly					PDCD4_ENST00000280154.7_Missense_Mutation_p.D287G|PDCD4_ENST00000481353.1_3'UTR	p.D276G	NM_145341.3	NP_663314.1	Q53EL6	PDCD4_HUMAN		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)	8	1187	+		Breast(234;0.0848)|Lung NSC(174;0.238)	287			MI 1.		B2RCV4|B5ME91|O15501|Q5VZS6|Q6PJI5|Q8TAR5|Q99834	Missense_Mutation	SNP	ENST00000280154.7	37	c.827A>G	CCDS7567.1	.	.	.	.	.	.	.	.	.	.	A	17.38	3.374374	0.61735	.	.	ENSG00000150593	ENST00000280154;ENST00000393104	T;T	0.45668	0.89;0.89	5.79	5.79	0.91817	Armadillo-type fold (1);	0.041576	0.85682	D	0.000000	T	0.46833	0.1413	M	0.73598	2.24	0.80722	D	1	B;B;B	0.15141	0.001;0.012;0.004	B;B;B	0.13407	0.009;0.009;0.009	T	0.39187	-0.9626	10	0.40728	T	0.16	-22.1437	16.1276	0.81406	1.0:0.0:0.0:0.0	.	273;287;276	B4DKX4;Q53EL6;B5ME91	.;PDCD4_HUMAN;.	G	287;276	ENSP00000280154:D287G;ENSP00000376816:D276G	ENSP00000280154:D287G	D	+	2	0	PDCD4	112639363	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.962000	0.93254	2.219000	0.72066	0.402000	0.26972	GAT		0.338	PDCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050361.1	NM_014456		12	57	0	0	0	1	0	12	57					G	112649373	A	G	112649373	3	3	329	1	0	0	0	0	1	0	0	0	11621	333	12	3	896	3	PDCD4	10	112649373	Missense_Mutation	SNP	A	TCGA-EM-A3O3-01A-11D-A21Z-08	13151040	112649373	22885374	25	6983											
MUC5B	727897	broad.mit.edu	37	chr11	1269180	1269180	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctcaactccggggacgacCtggatcctcacaaagctgac	9	15	2	1			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr11:1269180C>A	ENST00000529681.1	+	31	11128	c.11070C>A	c.(11068-11070)acC>acA	p.T3690T	MUC5B_ENST00000447027.1_Silent_p.T3693T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3690	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGGGGACGACCTGGATCCTCA	0.622																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(11077-11079)acC>acA		mucin 5B, oligomeric mucus/gel-forming							128	159	149					11																	1269180		2082	4177	6259	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1269180C>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11070C>A	11.37:g.1269180C>A						MUC5B_ENST00000529681.1_Silent_p.T3690T|RP11-532E4.2_ENST00000532061.2_RNA	p.T3693T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	11137	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3690	Missing (in Ref. 6; AAB61398).		11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.11079C>A	CCDS44515.2																																																																																				0.622	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		123	245	1	0	6.82392e-85	1	7.15411e-85	123	245					A	1269180	C	A	1269180	2	1	329	1	0	0	0	0	0	0	0	1	9979	668	24	4		4	MUC5B	11	1269180	Silent	SNP	C	TCGA-EM-A3O3-01A-11D-A21Z-08		1269180	133737336	26	6984											
OR5D13	390142	broad.mit.edu	37	chr11	55541409	55541409	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgatactcacatattttcttCttgacttatcgttttgtgaa	5	7	3	3			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr11:55541409C>A	ENST00000361760.1	+	1	496	c.496C>A	c.(496-498)Ctt>Att	p.L166I		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				ATATTTTCTTCTTGACTTATC	0.423																																						ENST00000361760.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(496-498)Ctt>Att		olfactory receptor, family 5, subfamily D, member 13							147	144	145					11																	55541409		2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541409C>A	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"GPCR / Class A : Olfactory receptors"	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.496C>A	11.37:g.55541409C>A	ENSP00000354800:p.Leu166Ile						p.L166I	NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN			1	496	+		all_epithelial(135;0.196)	166					Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.496C>A	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	C	8.538	0.872610	0.17322	.	.	ENSG00000198877	ENST00000361760	T	0.00211	8.54	3.3	-1.12	0.09808	GPCR, rhodopsin-like superfamily (1);	0.000000	0.27072	U	0.021064	T	0.00210	0.0006	L	0.57536	1.79	0.09310	N	1	P	0.40144	0.704	P	0.44811	0.461	T	0.41698	-0.9494	10	0.66056	D	0.02	-10.9169	7.6621	0.28409	0.0:0.4498:0.0:0.5502	.	166	Q8NGL4	OR5DD_HUMAN	I	166	ENSP00000354800:L166I	ENSP00000354800:L166I	L	+	1	0	OR5D13	55297985	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.626000	0.00874	-0.324000	0.08589	-0.400000	0.06385	CTT		0.423	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		24	65	1	0	1.64293e-13	1	1.69509e-13	24	65					A	55541409	C	A	55541409	3	1	329	1	0	0	0	0	1	0	0	0	11154	913	32	4	498	4	OR5D13	11	55541409	Missense_Mutation	SNP	C	TCGA-EM-A3O3-01A-11D-A21Z-08	54272229	55541409	79465107	27	6985											
OR10G4	390264	broad.mit.edu	37	chr11	123886643	123886643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagtcatgtcctatgatcGctacttggccatcagttacc	7	13	2	1			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr11:123886643G>A	ENST00000320891.4	+	1	362	c.362G>A	c.(361-363)cGc>cAc	p.R121H		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		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;0.0401)		TCCTATGATCGCTACTTGGCC	0.572																																						ENST00000320891.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48						c.(361-363)cGc>cAc		olfactory receptor, family 10, subfamily G, member 4							108	101	103					11																	123886643		2202	4296	6498	SO:0001583	missense	390264				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123886643G>A	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"GPCR / Class A : Olfactory receptors"	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.362G>A	11.37:g.123886643G>A	ENSP00000325076:p.Arg121His						p.R121H	NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	362	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	121					Q6IEW0	Missense_Mutation	SNP	ENST00000320891.4	37	c.362G>A	CCDS31702.1	.	.	.	.	.	.	.	.	.	.	g	15.59	2.878134	0.51801	.	.	ENSG00000254737	ENST00000320891	T	0.77489	-1.1	3.48	1.57	0.23409	GPCR, rhodopsin-like superfamily (1);	0.149917	0.28521	N	0.015052	T	0.75722	0.3888	M	0.86268	2.805	0.38271	D	0.942168	B	0.31413	0.322	B	0.27608	0.081	T	0.74677	-0.3585	10	0.72032	D	0.01	.	8.6759	0.34179	0.1926:0.0:0.8074:0.0	.	121	Q8NGN3	O10G4_HUMAN	H	121	ENSP00000325076:R121H	ENSP00000325076:R121H	R	+	2	0	OR10G4	123391853	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.774000	0.62339	0.300000	0.22699	0.580000	0.79431	CGC		0.572	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		33	118	0	0	0	1	0	33	118					A	123886643	G	A	123886643	3	1	329	1	0	0	0	0	1	0	0	0	10901	1087	38	1	364	1	OR10G4	11	123886643	Missense_Mutation	SNP	G	TCGA-EM-A3O3-01A-11D-A21Z-08	68345234	123886643	11119873	28	6986											
STAB2	55576	broad.mit.edu	37	chr12	104153016	104153016	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaacgaggctgggaagcaagCtgctcatcactgccagccag	12	12	2	0			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr12:104153016C>A	ENST00000388887.2	+	65	7417	c.7213C>A	c.(7213-7215)Ctg>Atg	p.L2405M	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GGGAAGCAAGCTGCTCATCAC	0.547																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(7213-7215)Ctg>Atg		stabilin 2							119	96	104					12																	104153016		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104153016C>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.7213C>A	12.37:g.104153016C>A	ENSP00000373539:p.Leu2405Met					RP11-341G23.4_ENST00000551299.1_RNA	p.L2405M	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			65	7417	+			2405			FAS1 7.			Missense_Mutation	SNP	ENST00000388887.2	37	c.7213C>A	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243942	0.39697	.	.	ENSG00000136011	ENST00000388887	D	0.92752	-3.1	4.77	4.77	0.60923	FAS1 domain (4);	0.286853	0.28504	N	0.015108	D	0.94128	0.8117	M	0.88450	2.955	0.35285	D	0.781661	P	0.34934	0.476	P	0.44561	0.453	D	0.97175	0.9847	10	0.72032	D	0.01	.	10.4217	0.44354	0.0:0.909:0.0:0.091	.	2405	Q8WWQ8	STAB2_HUMAN	M	2405	ENSP00000373539:L2405M	ENSP00000373539:L2405M	L	+	1	2	STAB2	102677146	1.000000	0.71417	1.000000	0.80357	0.537000	0.34900	3.626000	0.54245	2.340000	0.79590	0.655000	0.94253	CTG		0.547	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			23	49	1	0	1.28384e-07	1	1.3039e-07	23	49					A	104153016	C	A	104153016	3	1	329	1	0	0	0	0	1	0	0	0	15237	796	28	4	7471	4	STAB2	12	104153016	Missense_Mutation	SNP	C	TCGA-EM-A3O3-01A-11D-A21Z-08		104153016	29698879	29	6987											
FAM101B	359845	broad.mit.edu	37	chr17	293075	293075	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggtggtggtgtagacggcCttggggtacttggggtacac	19	6	0	1	rs373345868		TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr17:293075C>T	ENST00000329099.4	-	2	314	c.315G>A	c.(313-315)aaG>aaA	p.K105K		NM_182705.2	NP_874364.1	Q8N5W9	F101B_HUMAN	family with sequence similarity 101, member B	175					actin cytoskeleton organization (GO:0030036)|epithelial to mesenchymal transition (GO:0001837)	actin cytoskeleton (GO:0015629)	filamin binding (GO:0031005)			breast(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)|urinary_tract(1)	13		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.0216)		TGTAGACGGCCTTGGGGTACT	0.642																																						ENST00000329099.4																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)|urinary_tract(1)	13						c.(313-315)aaG>aaA		family with sequence similarity 101, member B		C		0,4232		0,0,2116	68	74	72		316	3.5	1.0	17		72	1,8443		0,1,4221	no	coding-synonymous	FAM101B	NM_182705.2		0,1,6337	TT,TC,CC		0.0118,0.0,0.0079		175/215	293075	1,12675	2116	4222	6338	SO:0001819	synonymous_variant	359845							g.chr17:293075C>T			17p13	2008-10-23			ENSG00000183688	ENSG00000183688			28705	protein-coding gene	gene with protein product		615928				12477932	Standard	NM_182705		Approved	MGC45871	uc002frj.3	Q8N5W9	OTTHUMG00000132483	ENST00000329099.4:c.315G>A	17.37:g.293075C>T							p.K105K	NM_182705.2	NP_874364.1	Q8N5W9	F101B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0216)	2	314	-		Myeloproliferative disorder(207;0.204)	175						Silent	SNP	ENST00000329099.4	37	c.315G>A																																																																																					0.642	FAM101B-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255652.1	NM_182705		16	36	0	0	0	1	0	16	36					T	293075	C	T	293075	2	4	329	1	0	0	0	0	0	0	0	1	5381	680	24	2		2	FAM101B	17	293075	Silent	SNP	C	TCGA-EM-A3O3-01A-11D-A21Z-08		293075	80902135	30	6988											
TRPV3	162514	broad.mit.edu	37	chr17	3438882	3438882	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cccaccgaagtagaagccttCgtgttggtacttggggttga	13	9	0	2			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr17:3438882C>G	ENST00000576742.1	-	7	1090	c.769G>C	c.(769-771)Gaa>Caa	p.E257Q	TRPV3_ENST00000301365.4_Missense_Mutation_p.E257Q|TRPV3_ENST00000572519.1_Missense_Mutation_p.E257Q	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	257					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	TAGAAGCCTTCGTGTTGGTAC	0.692																																						ENST00000301365.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35						c.(769-771)Gaa>Caa		transient receptor potential cation channel, subfamily V, member 3	Menthol(DB00825)						32	32	32					17																	3438882		2202	4300	6502	SO:0001583	missense	162514					integral to membrane	calcium channel activity	g.chr17:3438882C>G	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.769G>C	17.37:g.3438882C>G	ENSP00000461518:p.Glu257Gln					TRPV3_ENST00000576742.1_Missense_Mutation_p.E257Q|TRPV3_ENST00000572519.1_Missense_Mutation_p.E257Q	p.E257Q			Q8NET8	TRPV3_HUMAN			7	900	-			257					Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	ENST00000576742.1	37	c.769G>C	CCDS11029.1	.	.	.	.	.	.	.	.	.	.	c	11.52	1.662158	0.29515	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	D	0.87809	-2.3	4.93	3.96	0.45880	Ankyrin repeat-containing domain (3);	0.075449	0.56097	D	0.000037	D	0.82742	0.5103	L	0.41906	1.305	0.28711	N	0.903541	B;B;B;B;P;B;B	0.35272	0.021;0.048;0.195;0.013;0.493;0.36;0.294	B;B;B;B;B;B;B	0.39531	0.041;0.045;0.096;0.03;0.302;0.159;0.197	T	0.73773	-0.3877	10	0.17832	T	0.49	-7.9938	14.7085	0.69208	0.1466:0.8534:0.0:0.0	.	241;241;257;241;257;257;257	E7EV24;B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;.;.;.;TRPV3_HUMAN;.	Q	257;257;241	ENSP00000301365:E257Q	ENSP00000301365:E257Q	E	-	1	0	TRPV3	3385632	0.124000	0.22315	0.999000	0.59377	0.275000	0.26752	2.157000	0.42320	1.423000	0.47198	-0.224000	0.12420	GAA		0.692	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068		20	38	0	0	0	1	0	20	38					G	3438882	C	G	3438882	3	3	329	1	0	0	0	0	1	0	0	0	16594	893	31	4	1651	4	TRPV3	17	3438882	Missense_Mutation	SNP	C	TCGA-EM-A3O3-01A-11D-A21Z-08	3145807	3438882	77756328	31	6989											
PCGF2	7703	broad.mit.edu	37	chr17	36895858	36895858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgatgctcagcagcggccGggttttatggacctgcacgt	13	12	1	1			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr17:36895858G>A	ENST00000580830.1	-	5	891	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	PCGF2_ENST00000360797.2_Missense_Mutation_p.R64W|PCGF2_ENST00000578109.1_Missense_Mutation_p.R10W|PCGF2_ENST00000581345.1_Missense_Mutation_p.R64W|PCGF2_ENST00000579882.1_Missense_Mutation_p.R64W|PCGF2_ENST00000585100.1_Missense_Mutation_p.R64W			P35227	PCGF2_HUMAN	polycomb group ring finger 2	64					anterior/posterior pattern specification (GO:0009952)|cellular response to hydrogen peroxide (GO:0070301)|embryonic skeletal system morphogenesis (GO:0048704)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R64W(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					AGCAGCGGCCGGGTTTTATGG	0.617																																						ENST00000580830.1																			1	Substitution - Missense(1)	p.R64W(1)	central_nervous_system(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(190-192)Cgg>Tgg		polycomb group ring finger 2							145	117	127					17																	36895858		2203	4300	6503	SO:0001583	missense	7703				negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:36895858G>A	D13969	CCDS32638.1	17q12	2013-01-09	2005-01-17	2005-01-19		ENSG00000277258		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	12929	protein-coding gene	gene with protein product		600346	"ring finger protein 110"	ZNF144, RNF110		8325509	Standard	NM_007144		Approved	MEL-18	uc002hqp.1	P35227		ENST00000580830.1:c.190C>T	17.37:g.36895858G>A	ENSP00000461961:p.Arg64Trp					PCGF2_ENST00000579882.1_Missense_Mutation_p.R64W|PCGF2_ENST00000360797.2_Missense_Mutation_p.R64W|PCGF2_ENST00000578109.1_Missense_Mutation_p.R10W|PCGF2_ENST00000581345.1_Missense_Mutation_p.R64W|PCGF2_ENST00000585100.1_Missense_Mutation_p.R64W	p.R64W			P35227	PCGF2_HUMAN			5	891	-	Breast(7;9.07e-22)		64					A6NGD8	Missense_Mutation	SNP	ENST00000580830.1	37	c.190C>T	CCDS32638.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.421315	0.25639	.	.	ENSG00000056661	ENST00000360797	T	0.43294	0.95	4.56	2.5	0.30297	Zinc finger, RING/FYVE/PHD-type (1);	0.070142	0.64402	D	0.000017	T	0.42449	0.1203	M	0.68952	2.095	0.40076	D	0.976072	D	0.62365	0.991	P	0.44860	0.462	T	0.42766	-0.9432	10	0.46703	T	0.11	-9.2425	11.0498	0.47880	0.0:0.0:0.6189:0.3811	.	64	P35227	PCGF2_HUMAN	W	64	ENSP00000354033:R64W	ENSP00000354033:R64W	R	-	1	2	PCGF2	34149384	0.009000	0.17119	0.520000	0.27837	0.916000	0.54674	0.548000	0.23314	0.478000	0.27488	0.491000	0.48974	CGG		0.617	PCGF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442246.2	NM_007144		32	96	0	0	0	1	0	32	96					A	36895858	G	A	36895858	3	1	329	1	0	0	0	0	1	0	0	0	11575	1115	39	1	876	1	PCGF2	17	36895858	Missense_Mutation	SNP	G	TCGA-EM-A3O3-01A-11D-A21Z-08	33456976	36895858	44299352	32	6990											
DDX42	11325	broad.mit.edu	37	chr17	61885116	61885116	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcattaagtggtagagacatGattggtattgccaaaacagg	12	5	0	2			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr17:61885116G>A	ENST00000578681.1	+	10	1480	c.879G>A	c.(877-879)atG>atA	p.M293I	DDX42_ENST00000359353.5_Missense_Mutation_p.M174I|DDX42_ENST00000583590.1_Missense_Mutation_p.M293I|DDX42_ENST00000389924.2_Missense_Mutation_p.M293I|DDX42_ENST00000457800.2_Missense_Mutation_p.M293I	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	293	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						GTAGAGACATGATTGGTATTG	0.413																																						ENST00000578681.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						c.(877-879)atG>atA		DEAD (Asp-Glu-Ala-Asp) box helicase 42							170	160	163					17																	61885116		2203	4300	6503	SO:0001583	missense	11325				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr17:61885116G>A	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"DEAD-boxes"	18676	protein-coding gene	gene with protein product	"splicing factor 3b, subunit 8"	613369	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.879G>A	17.37:g.61885116G>A	ENSP00000464050:p.Met293Ile					DDX42_ENST00000583590.1_Missense_Mutation_p.M293I|DDX42_ENST00000457800.2_Missense_Mutation_p.M293I|DDX42_ENST00000389924.2_Missense_Mutation_p.M293I|DDX42_ENST00000359353.5_Missense_Mutation_p.M174I	p.M293I	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN			10	1480	+			293			Helicase ATP-binding.		A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	37	c.879G>A	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.902578	0.33628	.	.	ENSG00000198231	ENST00000389924;ENST00000457800;ENST00000359353	T;T	0.13538	2.58;2.58	5.93	5.93	0.95920	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.070845	0.85682	D	0.000000	T	0.07098	0.0180	N	0.02334	-0.595	0.80722	D	1	B	0.12013	0.005	B	0.10450	0.005	T	0.44251	-0.9340	10	0.16896	T	0.51	-15.5813	19.3421	0.94347	0.0:0.0:1.0:0.0	.	293	Q86XP3	DDX42_HUMAN	I	293;293;29	ENSP00000374574:M293I;ENSP00000390121:M293I	ENSP00000352308:M29I	M	+	3	0	DDX42	59238848	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.062000	0.89475	2.826000	0.97356	0.655000	0.94253	ATG		0.413	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		37	76	0	0	0	1	0	37	76					A	61885116	G	A	61885116	3	1	329	1	0	0	0	0	1	0	0	0	4362	1290	45	2	909	2	DDX42	17	61885116	Missense_Mutation	SNP	G	TCGA-EM-A3O3-01A-11D-A21Z-08	24989258	61885116	19310094	33	6991											
NFATC1	4772	broad.mit.edu	37	chr18	77171140	77171140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcccacgccgtccccgcacGgctccccgcgggtcagcgtg	13	21	1	0			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr18:77171140G>A	ENST00000427363.2	+	2	865	c.865G>A	c.(865-867)Ggc>Agc	p.G289S	NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000253506.5_Missense_Mutation_p.G289S|NFATC1_ENST00000592223.1_Missense_Mutation_p.G276S|NFATC1_ENST00000318065.5_Missense_Mutation_p.G276S|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000586434.1_Missense_Mutation_p.G276S|NFATC1_ENST00000587635.1_Missense_Mutation_p.G289S|NFATC1_ENST00000542384.1_Missense_Mutation_p.G289S|NFATC1_ENST00000329101.4_Missense_Mutation_p.G276S|NFATC1_ENST00000591814.1_Missense_Mutation_p.G289S			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	289	3 X SP repeats.				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	GTCCCCGCACGGCTCCCCGCG	0.687																																					GBM(151;1210 2593 28719 45011)	ENST00000253506.5																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40						c.(865-867)Ggc>Agc		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1							32	30	31					18																	77171140		2185	4269	6454	SO:0001583	missense	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77171140G>A	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"Nuclear factor of activated T-cells"	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.865G>A	18.37:g.77171140G>A	ENSP00000389377:p.Gly289Ser					NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.G289S|NFATC1_ENST00000592223.1_Missense_Mutation_p.G276S|NFATC1_ENST00000329101.4_Missense_Mutation_p.G276S|NFATC1_ENST00000591814.1_Missense_Mutation_p.G289S|NFATC1_ENST00000586434.1_Missense_Mutation_p.G276S|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000542384.1_Missense_Mutation_p.G289S|NFATC1_ENST00000318065.5_Missense_Mutation_p.G276S|NFATC1_ENST00000427363.2_Missense_Mutation_p.G289S	p.G289S	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	2	1234	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	289			3 X SP repeats.		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37	c.865G>A		.	.	.	.	.	.	.	.	.	.	G	3.702	-0.061371	0.07317	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T;T	0.73789	2.7;-0.78;-0.78;-0.78	4.96	2.88	0.33553	.	0.587759	0.18930	N	0.127243	T	0.43433	0.1247	N	0.08118	0	0.18873	N	0.999983	B;B;B;B;B;B;B	0.23442	0.048;0.048;0.012;0.085;0.085;0.04;0.022	B;B;B;B;B;B;B	0.14578	0.007;0.007;0.007;0.011;0.011;0.006;0.007	T	0.37174	-0.9717	10	0.02654	T	1	-34.4255	4.5549	0.12131	0.5569:0.0:0.4431:0.0	.	276;276;289;289;289;276;289	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	S	289;289;289;276;276;253	ENSP00000316553:G289S;ENSP00000253506:G289S;ENSP00000442435:G289S;ENSP00000327850:G276S	ENSP00000253506:G289S	G	+	1	0	NFATC1	75272128	0.006000	0.16342	0.832000	0.32986	0.790000	0.44656	1.594000	0.36697	1.185000	0.42971	0.591000	0.81541	GGC		0.687	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		39	64	0	0	0	1	0	39	64					A	77171140	G	A	77171140	3	1	329	1	0	0	0	0	1	0	0	0	10361	1116	39	1	963	1	NFATC1	18	77171140	Missense_Mutation	SNP	G	TCGA-EM-A3O3-01A-11D-A21Z-08		77171140	906108	34	6992											
HDGFRP2	84717	broad.mit.edu	37	chr19	4498373	4498373	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctaaaggtcgacagcccGgtaagaccctcagggcctgt	12	14	1	1			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr19:4498373G>A	ENST00000301284.4	+	12	1537	c.1473G>A	c.(1471-1473)ccG>ccA	p.P491P	HDGFRP2_ENST00000586684.1_Splice_Site_p.P491P	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		491					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										TCGACAGCCCGGTAAGACCCT	0.627																																						ENST00000301284.4																			0											c.e12+1									36	39	38					19																	4498373		2059	4207	6266	SO:0001630	splice_region_variant	0				transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:4498373G>A																												ENST00000301284.4:c.1473+1G>A	19.37:g.4498373G>A						HDGFRP2_ENST00000586684.1_Splice_Site_p.P491_splice	p.P491_splice	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN			12	1537	+			491					I3L080|K7EQZ6|Q96GI5|Q9BW08	Splice_Site	SNP	ENST00000301284.4	37	c.1473_splice	CCDS42472.1																																																																																				0.627	HDGFRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458642.1		Silent	7	16	0	0	0	1	0	7	16					A	4498373	G	A	4498373	5	1	329	1	0	0	0	0	0	0	1	0	7020	1130	39	1	1519	1	HDGFRP2	19	4498373	Splice_Site	SNP	G	TCGA-EM-A3O3-01A-11D-A21Z-08		4498373	54630610	35	6993											
ZNF714	148206	broad.mit.edu	37	chr19	21301008	21301008	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctcatgcctgtaatcccaAcactttgagaggactaggtg	11	10	1	1	rs200407781		TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr19:21301008A>G	ENST00000596143.1	+	5	1863	c.1538A>G	c.(1537-1539)aAc>aGc	p.N513S	ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	513				N -> S (in Ref. 2; CAD39077). {ECO:0000305}.	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(3)|lung(11)|urinary_tract(2)	18						tgtaatcccaacactttgaga	0.428																																						ENST00000596143.1																			0				endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						c.(1537-1539)aAc>aGc		zinc finger protein 714		A	SER/ASN	0,4406		0,0,2203	44	49	47		1538	-0.3	0.0	19		47	3,8593		0,3,4295	no	missense	ZNF714	NM_182515.3	46	0,3,6498	GG,GA,AA		0.0349,0.0,0.0231	benign	513/555	21301008	3,12999	2203	4298	6501	SO:0001583	missense	148206				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21301008A>G	AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"Zinc fingers, C2H2-type"	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.1538A>G	19.37:g.21301008A>G	ENSP00000472368:p.Asn513Ser					ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR	p.N513S	NM_182515.3	NP_872321.2	Q96N38	ZN714_HUMAN			5	1863	+			514					Q49AI1|Q86W65|Q8ND40	Missense_Mutation	SNP	ENST00000596143.1	37	c.1538A>G	CCDS54239.1	.	.	.	.	.	.	.	.	.	.	.	1.133	-0.651728	0.03506	0.0	3.49E-4	ENSG00000160352	ENST00000343332;ENST00000291770	.	.	.	0.149	-0.298	0.12814	.	.	.	.	.	T	0.07503	0.0189	N	0.00621	-1.32	0.20074	N	0.999933	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.32455	-0.9906	8	0.15952	T	0.53	.	4.3785	0.11283	0.3402:0.0:0.6598:0.0	.	514;513;514	Q96N38-2;A6NEM4;Q96N38	.;.;ZN714_HUMAN	S	513	.	ENSP00000291770:N513S	N	+	2	0	ZNF714	21092848	0.000000	0.05858	0.028000	0.17463	0.028000	0.11728	-0.502000	0.06390	-1.120000	0.02953	-1.120000	0.02017	AAC		0.428	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1	NM_182515		3	15	0	0	0	1	0	3	15					G	21301008	A	G	21301008	3	3	329	1	0	0	0	0	1	0	0	0	18115	43	2	3	1548	3	ZNF714	19	21301008	Missense_Mutation	SNP	A	TCGA-EM-A3O3-01A-11D-A21Z-08	16802635	21301008	37827975	36	6994											
FLT3LG	2323	broad.mit.edu	37	chr19	49979779	49979779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgcaaggcttgctggagCgcgtgaacacggagatacac	14	9	0	3			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr19:49979779C>T	ENST00000594009.1	+	4	377	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	CTD-3148I10.15_ENST00000595815.1_RNA|FLT3LG_ENST00000344019.3_Missense_Mutation_p.R100C|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000204637.2_Missense_Mutation_p.R18C|FLT3LG_ENST00000597551.1_Missense_Mutation_p.R100C|FLT3LG_ENST00000600429.1_Missense_Mutation_p.R100C|FLT3LG_ENST00000595510.1_Missense_Mutation_p.R18C|FLT3LG_ENST00000596435.1_Missense_Mutation_p.R100C	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	100					embryonic hemopoiesis (GO:0035162)|lymphocyte differentiation (GO:0030098)|positive regulation of cell proliferation (GO:0008284)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|membrane (GO:0016020)	receptor binding (GO:0005102)			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CTTGCTGGAGCGCGTGAACAC	0.592											OREG0025623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000595510.1																			0				large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10						c.(52-54)Cgc>Tgc		fms-related tyrosine kinase 3 ligand							84	74	77					19																	49979779		2203	4300	6503	SO:0001583	missense	0				positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity	g.chr19:49979779C>T	U04806	CCDS12767.1, CCDS62753.1	19q13.3	2014-01-30				ENSG00000090554		"Endogenous ligands"	3766	protein-coding gene	gene with protein product		600007				8145851, 7824267	Standard	NM_001204502		Approved		uc010yau.2	P49771		ENST00000594009.1:c.298C>T	19.37:g.49979779C>T	ENSP00000469613:p.Arg100Cys		OREG0025623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	966	FLT3LG_ENST00000344019.3_Missense_Mutation_p.R100C|FLT3LG_ENST00000594009.1_Missense_Mutation_p.R100C|FLT3LG_ENST00000204637.2_Missense_Mutation_p.R18C|FLT3LG_ENST00000597551.1_Missense_Mutation_p.R100C|FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000596435.1_Missense_Mutation_p.R100C|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000600429.1_Missense_Mutation_p.R100C	p.R18C			P49771	FLT3L_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)	4	353	+		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	100					A0AVC2|B9EGH2|Q05C96	Missense_Mutation	SNP	ENST00000594009.1	37	c.52C>T	CCDS12767.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.939946	0.34283	.	.	ENSG00000090554	ENST00000204637;ENST00000344019	.	.	.	4.3	-1.54	0.08584	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.158280	0.06395	N	0.717773	T	0.18676	0.0448	N	0.14661	0.345	0.09310	N	0.999998	P	0.49635	0.926	P	0.44561	0.453	T	0.17715	-1.0360	9	0.62326	D	0.03	-3.6523	4.1567	0.10265	0.4224:0.1872:0.3904:0.0	.	100	P49771	FLT3L_HUMAN	C	100	.	ENSP00000204637:R100C	R	+	1	0	FLT3LG	54671591	0.015000	0.18098	0.025000	0.17156	0.420000	0.31355	-0.121000	0.10643	-0.047000	0.13423	-0.333000	0.08304	CGC		0.592	FLT3LG-007	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465305.1			13	51	0	0	0	1	0	13	51					T	49979779	C	T	49979779	3	4	329	1	0	0	0	0	1	0	0	0	5943	768	27	1	312	1	FLT3LG	19	49979779	Missense_Mutation	SNP	C	TCGA-EM-A3O3-01A-11D-A21Z-08	28678771	49979779	9149204	37	6995											
SCAF1	58506	broad.mit.edu	37	chr19	50154329	50154329	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccccccgattcgatatctAtgaccccttccaccccaccg	5	20	1	1			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr19:50154329A>G	ENST00000360565.3	+	7	807	c.683A>G	c.(682-684)tAt>tGt	p.Y228C		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	228	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TTCGATATCTATGACCCCTTC	0.657																																						ENST00000360565.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20						c.(682-684)tAt>tGt		SR-related CTD-associated factor 1							32	33	33					19																	50154329		2200	4295	6495	SO:0001583	missense	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50154329A>G	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.683A>G	19.37:g.50154329A>G	ENSP00000353769:p.Tyr228Cys						p.Y228C	NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	7	807	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	228			Pro-rich.		Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	ENST00000360565.3	37	c.683A>G	CCDS33074.1	.	.	.	.	.	.	.	.	.	.	a	8.940	0.965514	0.18583	.	.	ENSG00000126461	ENST00000360565	T	0.57752	0.38	4.25	4.25	0.50352	.	0.575691	0.13235	N	0.403293	T	0.57066	0.2028	N	0.19112	0.55	0.42162	D	0.991602	D	0.89917	1.0	D	0.87578	0.998	T	0.52064	-0.8625	9	.	.	.	-0.2675	12.798	0.57569	1.0:0.0:0.0:0.0	.	228	Q9H7N4	SFR19_HUMAN	C	228	ENSP00000353769:Y228C	.	Y	+	2	0	SCAF1	54846141	1.000000	0.71417	0.998000	0.56505	0.335000	0.28730	4.481000	0.60250	1.913000	0.55393	0.525000	0.51046	TAT		0.657	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		27	52	0	0	0	1	0	27	52					G	50154329	A	G	50154329	3	3	329	1	0	0	0	0	1	0	0	0	13868	449	16	3	705	3	SCAF1	19	50154329	Missense_Mutation	SNP	A	TCGA-EM-A3O3-01A-11D-A21Z-08	174550	50154329	8974654	38	6996											
ZNF613	79898	broad.mit.edu	37	chr19	52443516	52443516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacttgggaggagtggcagCtcctcggccctgctcagaag	14	12	2	1			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr19:52443516C>T	ENST00000293471.6	+	4	749	c.70C>T	c.(70-72)Ctc>Ttc	p.L24F	ZNF613_ENST00000391794.4_5'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	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)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		GGAGTGGCAGCTCCTCGGCCC	0.512																																						ENST00000293471.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(70-72)Ctc>Ttc		zinc finger protein 613							127	121	123					19																	52443516		2203	4300	6503	SO:0001583	missense	79898				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52443516C>T	AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.70C>T	19.37:g.52443516C>T	ENSP00000293471:p.Leu24Phe					ZNF613_ENST00000391794.4_5'UTR	p.L24F	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)	4	749	+		all_neural(266;0.117)	24			KRAB.		Q96SS9	Missense_Mutation	SNP	ENST00000293471.6	37	c.70C>T	CCDS33089.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898002	0.52227	.	.	ENSG00000176024	ENST00000293471	T	0.02177	4.41	3.32	3.32	0.38043	Krueppel-associated box (4);	0.000000	0.32416	N	0.006122	T	0.04092	0.0114	M	0.68593	2.085	0.80722	D	1	P	0.38617	0.64	B	0.38985	0.287	T	0.48422	-0.9037	10	0.41790	T	0.15	.	12.0854	0.53693	0.0:1.0:0.0:0.0	.	24	Q6PF04	ZN613_HUMAN	F	24	ENSP00000293471:L24F	ENSP00000293471:L24F	L	+	1	0	ZNF613	57135328	0.986000	0.35501	1.000000	0.80357	0.978000	0.69477	0.542000	0.23222	1.879000	0.54435	0.650000	0.86243	CTC		0.512	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840		52	78	0	0	0	1	0	52	78					T	52443516	C	T	52443516	3	4	329	1	0	0	0	0	1	0	0	0	18035	797	28	2	76	2	ZNF613	19	52443516	Missense_Mutation	SNP	C	TCGA-EM-A3O3-01A-11D-A21Z-08	2289187	52443516	6685467	39	6997											
ZNF497	162968	broad.mit.edu	37	chr19	58868467	58868467	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgtgtctcctggtggtGgatgagctgcgagtgcgcgc	18	9	1	1			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr19:58868467G>C	ENST00000311044.3	-	3	723	c.535C>G	c.(535-537)Cac>Gac	p.H179D	A1BG-AS1_ENST00000595302.1_RNA|CTD-2619J13.9_ENST00000599952.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|ZNF497_ENST00000425453.3_Missense_Mutation_p.H179D|A1BG-AS1_ENST00000600686.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	179					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		TCCTGGTGGTGGATGAGCTGC	0.677																																						ENST00000311044.3																			0				central_nervous_system(2)|lung(3)|skin(2)	7						c.(535-537)Cac>Gac		zinc finger protein 497							28	23	25					19																	58868467		2203	4298	6501	SO:0001583	missense	162968				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58868467G>C	AK126727	CCDS12977.1	19q13.43	2013-01-08			ENSG00000174586	ENSG00000174586		"Zinc fingers, C2H2-type"	23714	protein-coding gene	gene with protein product							Standard	NM_198458		Approved	FLJ44773	uc002qsi.2	Q6ZNH5		ENST00000311044.3:c.535C>G	19.37:g.58868467G>C	ENSP00000311183:p.His179Asp					CTD-2619J13.8_ENST00000599109.1_RNA|ZNF497_ENST00000425453.3_Missense_Mutation_p.H179D	p.H179D	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)	3	723	-		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	179					Q05AG8|Q0VF48|Q6ZTD2|Q9UIA8	Missense_Mutation	SNP	ENST00000311044.3	37	c.535C>G	CCDS12977.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.594284	0.28445	.	.	ENSG00000174586	ENST00000311044;ENST00000425453;ENST00000391697	T;T	0.49720	0.77;0.77	0.62	0.62	0.17637	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20740	0.0499	N	0.04203	-0.255	0.21290	N	0.999736	B	0.27117	0.168	B	0.30943	0.122	T	0.29882	-0.9997	9	0.13108	T	0.6	.	4.6194	0.12442	0.0:0.0:0.4183:0.5817	.	179	Q6ZNH5	ZN497_HUMAN	D	179;179;24	ENSP00000311183:H179D;ENSP00000402815:H179D	ENSP00000311183:H179D	H	-	1	0	ZNF497	63560279	0.000000	0.05858	0.793000	0.32043	0.769000	0.43574	-0.538000	0.06120	0.576000	0.29452	0.205000	0.17691	CAC		0.677	ZNF497-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466942.2	NM_198458		8	22	0	0	0	1	0	8	22					C	58868467	G	C	58868467	3	2	329	1	0	0	0	0	1	0	0	0	17943	1348	47	4	965	4	ZNF497	19	58868467	Missense_Mutation	SNP	G	TCGA-EM-A3O3-01A-11D-A21Z-08	6424951	58868467	260516	40	6998											
BTBD3	22903	broad.mit.edu	37	chr20	11904148	11904148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagccagacaccttctacaCagccagtgtgatactggatg	10	12	1	2	rs370789350		TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr20:11904148C>T	ENST00000405977.1	+	5	2028	c.1403C>T	c.(1402-1404)aCa>aTa	p.T468I	BTBD3_ENST00000254977.3_Missense_Mutation_p.T407I|BTBD3_ENST00000378226.2_Missense_Mutation_p.T468I|BTBD3_ENST00000399006.2_Missense_Mutation_p.T407I	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	468					cerebral cortex development (GO:0021987)|dendrite morphogenesis (GO:0048813)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						ACCTTCTACACAGCCAGTGTG	0.493																																						ENST00000405977.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						c.(1402-1404)aCa>aTa		BTB (POZ) domain containing 3		C	ILE/THR,ILE/THR	2,4404	4.2+/-10.8	0,2,2201	127	113	118		1403,1220	6.0	1.0	20		118	0,8600		0,0,4300	no	missense,missense	BTBD3	NM_014962.2,NM_181443.1	89,89	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging	468/523,407/462	11904148	2,13004	2203	4300	6503	SO:0001583	missense	22903							g.chr20:11904148C>T	AB023169	CCDS13113.1, CCDS13114.1	20p12.2	2013-01-08			ENSG00000132640	ENSG00000132640		"BTB/POZ domain containing"	15854	protein-coding gene	gene with protein product		615566					Standard	NM_001282551		Approved	KIAA0952, dJ742J24.1	uc002wnz.3	Q9Y2F9	OTTHUMG00000031889	ENST00000405977.1:c.1403C>T	20.37:g.11904148C>T	ENSP00000384545:p.Thr468Ile					BTBD3_ENST00000254977.3_Missense_Mutation_p.T407I|BTBD3_ENST00000399006.2_Missense_Mutation_p.T407I|BTBD3_ENST00000378226.2_Missense_Mutation_p.T468I	p.T468I			Q9Y2F9	BTBD3_HUMAN			5	2028	+			468					D3DW19|Q5JY73	Missense_Mutation	SNP	ENST00000405977.1	37	c.1403C>T	CCDS13113.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872487	0.72180	4.54E-4	0.0	ENSG00000132640	ENST00000254977;ENST00000399006;ENST00000405977;ENST00000378226	T;T;T;T	0.79749	-1.27;-1.27;-1.3;-1.3	6.02	6.02	0.97574	PHR (1);	0.000000	0.85682	D	0.000000	D	0.89546	0.6746	M	0.73962	2.25	0.80722	D	1	D	0.63046	0.992	D	0.68483	0.958	D	0.88334	0.2970	10	0.48119	T	0.1	.	19.5289	0.95219	0.0:1.0:0.0:0.0	.	468	Q9Y2F9	BTBD3_HUMAN	I	407;407;468;468	ENSP00000254977:T407I;ENSP00000381971:T407I;ENSP00000384545:T468I;ENSP00000367471:T468I	ENSP00000254977:T407I	T	+	2	0	BTBD3	11852148	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.865000	0.98341	0.655000	0.94253	ACA		0.493	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078021.3			10	33	0	0	0	1	0	10	33					T	11904148	C	T	11904148	3	4	329	1	0	0	0	0	1	0	0	0	1544	478	17	2	1417	2	BTBD3	20	11904148	Missense_Mutation	SNP	C	TCGA-EM-A3O3-01A-11D-A21Z-08		11904148	51121372	41	6999											
NINL	22981	broad.mit.edu	37	chr20	25507167	25507167	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagccagtccccgtggtgtcGcagctgctgtagacttccct	11	14	0	1			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr20:25507167G>A	ENST00000278886.6	-	2	130	c.57C>T	c.(55-57)tgC>tgT	p.C19C	NINL_ENST00000422516.1_Silent_p.C19C	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	19	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CCGTGGTGTCGCAGCTGCTGT	0.577																																						ENST00000278886.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(55-57)tgC>tgT		ninein-like							131	125	127					20																	25507167		2203	4300	6503	SO:0001819	synonymous_variant	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25507167G>A		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"EF-hand domain containing"	29163	protein-coding gene	gene with protein product	"ninein-like protein"	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.57C>T	20.37:g.25507167G>A						NINL_ENST00000422516.1_Silent_p.C19C	p.C19C	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN			2	130	-			19			EF-hand 1.		A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Silent	SNP	ENST00000278886.6	37	c.57C>T	CCDS33452.1																																																																																				0.577	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		48	66	0	0	0	1	0	48	66					A	25507167	G	A	25507167	2	1	329	1	0	0	0	0	0	0	0	1	10420	1079	38	1		1	NINL	20	25507167	Silent	SNP	G	TCGA-EM-A3O3-01A-11D-A21Z-08	13603019	25507167	37518353	42	7000											
KIAA1755	85449	broad.mit.edu	37	chr20	36869104	36869104	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagggttgcctctgccctcTcaagaatgagaatttgagcc	11	10	2	4			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr20:36869104T>C	ENST00000279024.4	-	3	1700	c.1429A>G	c.(1429-1431)Aga>Gga	p.R477G		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	477										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CTCTGCCCTCTCAAGAATGAG	0.572																																						ENST00000279024.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(1429-1431)Aga>Gga		KIAA1755							66	69	68					20																	36869104		2203	4300	6503	SO:0001583	missense	85449							g.chr20:36869104T>C	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.1429A>G	20.37:g.36869104T>C	ENSP00000279024:p.Arg477Gly						p.R477G	NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN			3	1700	-		Myeloproliferative disorder(115;0.00874)	477					Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	c.1429A>G	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	T	10.43	1.347834	0.24426	.	.	ENSG00000149633	ENST00000279024;ENST00000373398	T	0.05786	3.39	4.85	3.73	0.42828	.	0.123829	0.36167	N	0.002754	T	0.03305	0.0096	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.37957	-0.9683	10	0.54805	T	0.06	.	6.1261	0.20180	0.0:0.1234:0.0:0.8766	.	477	Q5JYT7	K1755_HUMAN	G	477;24	ENSP00000279024:R477G	ENSP00000279024:R477G	R	-	1	2	KIAA1755	36302518	0.856000	0.29760	0.146000	0.22360	0.329000	0.28539	2.269000	0.43346	0.866000	0.35629	0.533000	0.62120	AGA		0.572	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		4	51	0	0	0	1	0	4	51					C	36869104	T	C	36869104	3	2	329	1	0	0	0	0	1	0	0	0	8257	1559	54	3	2221	3	KIAA1755	20	36869104	Missense_Mutation	SNP	T	TCGA-EM-A3O3-01A-11D-A21Z-08	11361937	36869104	26156416	43	7001											
CCDC157	550631	broad.mit.edu	37	chr22	30772567	30772567	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcagccctgcacatccccaTctcggcagccctgcagccag	10	19	1	0	rs202178544	byFrequency	TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr22:30772567T>C	ENST00000405659.1	+	12	2801	c.2092T>C	c.(2092-2094)Tct>Cct	p.S698P	CCDC157_ENST00000338306.3_Missense_Mutation_p.S698P|RP1-130H16.16_ENST00000332468.4_RNA			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	698										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						CACATCCCCATCTCGGCAGCC	0.667													T|||	6	0.00119808	0.0038	0.0014	5008	,	,		15299	0		0	False		,,,				2504	0					ENST00000405659.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						c.(2092-2094)Tct>Cct		coiled-coil domain containing 157							71	79	76					22																	30772567		2203	4300	6503	SO:0001583	missense	550631							g.chr22:30772567T>C	BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.2092T>C	22.37:g.30772567T>C	ENSP00000385357:p.Ser698Pro					CCDC157_ENST00000338306.3_Missense_Mutation_p.S698P|RP1-130H16.16_ENST00000332468.4_RNA	p.S698P			Q569K6	CC157_HUMAN			12	2801	+			698					Q0VD76|Q9BYA4	Missense_Mutation	SNP	ENST00000405659.1	37	c.2092T>C	CCDS33632.2	.	.	.	.	.	.	.	.	.	.	T	7.336	0.619980	0.14193	.	.	ENSG00000187860	ENST00000405659;ENST00000338306	T;T	0.39229	1.09;1.09	3.04	-2.83	0.05769	.	1.188910	0.06203	N	0.683596	T	0.20373	0.0490	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19549	-1.0302	10	0.25106	T	0.35	-1.9381	7.0241	0.24930	0.0:0.3799:0.0:0.6201	.	698	Q569K6	CC157_HUMAN	P	698	ENSP00000385357:S698P;ENSP00000343087:S698P	ENSP00000343087:S698P	S	+	1	0	CCDC157	29102567	0.000000	0.05858	0.008000	0.14137	0.026000	0.11368	-0.341000	0.07811	-0.707000	0.05022	-0.415000	0.06103	TCT		0.667	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320936.1	NM_001017437		8	287	0	0	0	1	0	8	287					C	30772567	T	C	30772567	3	2	329	1	0	0	0	0	1	0	0	0	2789	1435	50	3	2130	3	CCDC157	22	30772567	Missense_Mutation	SNP	T	TCGA-EM-A3O3-01A-11D-A21Z-08		30772567	20531999	44	7002											
CASZ1	54897	broad.mit.edu	37	chr1	10713462	10713462	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtggcagagggcttgagGgcagctgcagccagcctggc	18	10	0	2			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr1:10713462G>A	ENST00000377022.3	-	11	2969	c.2652C>T	c.(2650-2652)gcC>gcT	p.A884A	CASZ1_ENST00000344008.5_Silent_p.A884A|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	884					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AGGGCTTGAGGGCAGCTGCAG	0.657																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(2650-2652)gcC>gcT		castor zinc finger 1							33	37	36					1																	10713462		2203	4300	6503	SO:0001819	synonymous_variant	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10713462G>A	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.2652C>T	1.37:g.10713462G>A						RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Silent_p.A884A	p.A884A	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	11	2969	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	884					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	ENST00000377022.3	37	c.2652C>T	CCDS41246.1																																																																																				0.657	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		27	44	0	0	0	1	0	27	44					A	10713462	G	A	10713462	2	1	330	1	0	0	0	0	0	0	0	1	2685	1219	43	2		2	CASZ1	1	10713462	Silent	SNP	G	TCGA-EM-A3O6-01A-11D-A21Z-08		10713462	238537159	1	7003											
AKNAD1	254268	broad.mit.edu	37	chr1	109369904	109369904	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttgatccttccgtggcccTttttctccacgttttgcttc	7	13	1	1			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr1:109369904T>C	ENST00000370001.3	-	11	2127	c.1859A>G	c.(1858-1860)aAg>aGg	p.K620R	AKNAD1_ENST00000369994.1_Missense_Mutation_p.K590R|AKNAD1_ENST00000369995.3_Missense_Mutation_p.K620R|AKNAD1_ENST00000357393.4_Missense_Mutation_p.K327R	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	620						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TCCGTGGCCCTTTTTCTCCAC	0.413																																						ENST00000370001.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						c.(1858-1860)aAg>aGg		AKNA domain containing 1							183	188	186					1																	109369904		2203	4299	6502	SO:0001583	missense	254268							g.chr1:109369904T>C	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 62"	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.1859A>G	1.37:g.109369904T>C	ENSP00000359018:p.Lys620Arg					AKNAD1_ENST00000369995.3_Missense_Mutation_p.K620R|AKNAD1_ENST00000357393.4_Missense_Mutation_p.K327R|AKNAD1_ENST00000369994.1_Missense_Mutation_p.K590R	p.K620R	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN			11	2127	-			620					B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	c.1859A>G	CCDS791.2	.	.	.	.	.	.	.	.	.	.	T	11.26	1.586061	0.28268	.	.	ENSG00000162641	ENST00000370001;ENST00000357393;ENST00000369994;ENST00000369995	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	4.87	1.29	0.21616	.	1.029790	0.07724	N	0.944149	T	0.06962	0.0177	L	0.36672	1.1	0.09310	N	1	B;B	0.15719	0.014;0.005	B;B	0.12156	0.007;0.004	T	0.40496	-0.9560	10	0.35671	T	0.21	-2.1788	6.0331	0.19690	0.0:0.3909:0.0:0.6091	.	327;620	B4DET8;Q5T1N1	.;AKND1_HUMAN	R	620;327;590;620	ENSP00000359018:K620R;ENSP00000349968:K327R;ENSP00000359011:K590R;ENSP00000359012:K620R	ENSP00000349968:K327R	K	-	2	0	AKNAD1	109171427	0.001000	0.12720	0.001000	0.08648	0.119000	0.20118	0.136000	0.15974	0.125000	0.18397	0.379000	0.24179	AAG		0.413	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		5	251	0	0	0	1	0	5	251					C	109369904	T	C	109369904	3	2	330	1	0	0	0	0	1	0	0	0	464	1609	56	3	675	3	AKNAD1	1	109369904	Missense_Mutation	SNP	T	TCGA-EM-A3O6-01A-11D-A21Z-08	98656442	109369904	139880717	2	7004											
ATP1A1	476	broad.mit.edu	37	chr1	116929945	116929945	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgcagctgagatcctggcGcgagatggtcccaacgccct	13	14	0	2	rs147430340		TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr1:116929945G>A	ENST00000295598.5	+	4	471	c.219G>A	c.(217-219)gcG>gcA	p.A73A	ATP1A1_ENST00000369496.4_Silent_p.A42A|ATP1A1_ENST00000537345.1_Silent_p.A73A	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	73					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	AGATCCTGGCGCGAGATGGTC	0.498																																						ENST00000537345.1																			0				NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(217-219)gcG>gcA		ATPase, Na+/K+ transporting, alpha 1 polypeptide	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	G	,,	0,4406		0,0,2203	90	85	87		219,219,126	2.5	1.0	1	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ATP1A1	NM_000701.7,NM_001160233.1,NM_001160234.1	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	73/1024,73/1024,42/993	116929945	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	476				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity	g.chr1:116929945G>A	D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"ATPases / P-type"	799	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-1", "sodium pump subunit alpha-1", "sodium-potassium ATPase catalytic subunit alpha-1"	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.219G>A	1.37:g.116929945G>A						ATP1A1_ENST00000295598.5_Silent_p.A73A|ATP1A1_ENST00000369496.4_Silent_p.A42A	p.A73A	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	4	582	+	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)	73					B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Silent	SNP	ENST00000295598.5	37	c.219G>A	CCDS887.1																																																																																				0.498	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233		23	74	0	0	0	1	0	23	74					A	116929945	G	A	116929945	2	1	330	1	0	0	0	0	0	0	0	1	1128	1074	38	1		1	ATP1A1	1	116929945	Silent	SNP	G	TCGA-EM-A3O6-01A-11D-A21Z-08	7560041	116929945	132320676	3	7005											
KIF14	9928	broad.mit.edu	37	chr1	200561296	200561296	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtatctcttccagatggccTttttcctttctggacttcta	6	11	3	1			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr1:200561296T>C	ENST00000367350.4	-	16	3163	c.2725A>G	c.(2725-2727)Agg>Ggg	p.R909G		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	909	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						CCAGATGGCCTTTTTCCTTTC	0.378																																						ENST00000367350.4																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						c.(2725-2727)Agg>Ggg		kinesin family member 14							132	119	123					1																	200561296		2203	4300	6503	SO:0001583	missense	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200561296T>C	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"Kinesins"	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.2725A>G	1.37:g.200561296T>C	ENSP00000356319:p.Arg909Gly						p.R909G	NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN			16	3163	-			909			Required for CIT-binding.		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	c.2725A>G	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	T	3.274	-0.148437	0.06627	.	.	ENSG00000118193	ENST00000367350	T	0.71817	-0.6	5.53	0.432	0.16529	.	0.167263	0.53938	D	0.000058	T	0.52354	0.1729	L	0.37850	1.14	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29941	-0.9995	10	0.27082	T	0.32	.	5.4661	0.16644	0.0:0.2013:0.2499:0.5488	.	909	Q15058	KIF14_HUMAN	G	909	ENSP00000356319:R909G	ENSP00000356319:R909G	R	-	1	2	KIF14	198827919	0.990000	0.36364	0.000000	0.03702	0.027000	0.11550	1.800000	0.38833	-0.174000	0.10743	-1.276000	0.01395	AGG		0.378	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		3	118	0	0	0	1	0	3	118					C	200561296	T	C	200561296	3	2	330	1	0	0	0	0	1	0	0	0	8276	1608	56	3	2281	3	KIF14	1	200561296	Missense_Mutation	SNP	T	TCGA-EM-A3O6-01A-11D-A21Z-08	83631351	200561296	48689325	4	7006											
ZNF669	79862	broad.mit.edu	37	chr1	247264279	247264279	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttctctgatgtctttcaacTgaattgagaaaataaaaagc	7	6	3	3			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr1:247264279T>G	ENST00000343381.6	-	4	964	c.792A>C	c.(790-792)tcA>tcC	p.S264S	ZNF669_ENST00000448299.2_Silent_p.S178S|ZNF669_ENST00000358785.4_3'UTR|ZNF669_ENST00000366501.1_3'UTR	NM_024804.2	NP_079080.2	Q96BR6	ZN669_HUMAN	zinc finger protein 669	264					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(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			GTCTTTCAACTGAATTGAGAA	0.363																																						ENST00000343381.6																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17						c.(790-792)tcA>tcC		zinc finger protein 669							62	63	63					1																	247264279		2203	4300	6503	SO:0001819	synonymous_variant	79862				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:247264279T>G		CCDS31088.1, CCDS44345.1	1q44	2013-01-08			ENSG00000188295	ENSG00000188295		"Zinc fingers, C2H2-type", "-"	25736	protein-coding gene	gene with protein product						12477932	Standard	NM_024804		Approved	FLJ12606	uc001ice.2	Q96BR6	OTTHUMG00000040869	ENST00000343381.6:c.792A>C	1.37:g.247264279T>G						ZNF669_ENST00000366501.1_3'UTR|ZNF669_ENST00000358785.4_3'UTR|ZNF669_ENST00000448299.2_Silent_p.S178S	p.S264S	NM_024804.2	NP_079080.2	Q96BR6	ZN669_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00427)		4	964	-	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		264					B3KP94|Q5VT39|Q9H9Q6	Silent	SNP	ENST00000343381.6	37	c.792A>C	CCDS31088.1																																																																																				0.363	ZNF669-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000098394.4	NM_024804		5	79	0	0	0	1	0	5	79					G	247264279	T	G	247264279	2	3	330	1	0	0	0	0	0	0	0	1	18073	1567	55	5		5	ZNF669	1	247264279	Silent	SNP	T	TCGA-EM-A3O6-01A-11D-A21Z-08	46702983	247264279	1986342	5	7007											
NEB	4703	broad.mit.edu	37	chr2	152496938	152496938	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcgggcaggcatgtccactgGtgcaggtagttcttgtagtc	14	9	1	0			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr2:152496938G>C	ENST00000172853.10	-	61	8763	c.8616C>G	c.(8614-8616)caC>caG	p.H2872Q	NEB_ENST00000604864.1_Missense_Mutation_p.H2872Q|NEB_ENST00000397345.3_Missense_Mutation_p.H2872Q|NEB_ENST00000603639.1_Missense_Mutation_p.H2872Q|NEB_ENST00000409198.1_Missense_Mutation_p.H2872Q|NEB_ENST00000427231.2_Missense_Mutation_p.H2872Q			P20929	NEBU_HUMAN	nebulin	2872					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATGTCCACTGGTGCAGGTAGT	0.562																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(8614-8616)caC>caG		nebulin							215	218	217					2																	152496938		2114	4231	6345	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152496938G>C	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.8616C>G	2.37:g.152496938G>C	ENSP00000172853:p.His2872Gln					NEB_ENST00000603639.1_Missense_Mutation_p.H2872Q|NEB_ENST00000409198.1_Missense_Mutation_p.H2872Q|NEB_ENST00000172853.10_Missense_Mutation_p.H2872Q|NEB_ENST00000604864.1_Missense_Mutation_p.H2872Q|NEB_ENST00000397345.3_Missense_Mutation_p.H2872Q	p.H2872Q	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	61	8818	-			2872					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.8616C>G		.	.	.	.	.	.	.	.	.	.	G	18.84	3.709396	0.68615	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	6.07	2.15	0.27550	.	0.122077	0.53938	D	0.000045	T	0.64875	0.2638	M	0.88775	2.98	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.63207	-0.6689	10	0.35671	T	0.21	.	10.4358	0.44435	0.3461:0.0:0.6539:0.0	.	2872	P20929	NEBU_HUMAN	Q	2872	ENSP00000386259:H2872Q;ENSP00000380505:H2872Q;ENSP00000416578:H2872Q;ENSP00000172853:H2872Q	ENSP00000172853:H2872Q	H	-	3	2	NEB	152205184	1.000000	0.71417	0.998000	0.56505	0.932000	0.56968	1.099000	0.31013	0.106000	0.17784	-0.140000	0.14226	CAC		0.562	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		12	299	0	0	0	1	0	12	299					C	152496938	G	C	152496938	3	2	330	1	0	0	0	0	1	0	0	0	10302	1252	44	4	17558	4	NEB	2	152496938	Missense_Mutation	SNP	G	TCGA-EM-A3O6-01A-11D-A21Z-08		152496938	90702435	6	7008											
DHX30	22907	broad.mit.edu	37	chr3	47859529	47859529	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatcgggcccagcacaggCagcgtcagtgcaaacttccc	11	15	1	1			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr3:47859529C>T	ENST00000445061.1	+	4	453	c.46C>T	c.(46-48)Cag>Tag	p.Q16*	DHX30_ENST00000446256.2_5'UTR|DHX30_ENST00000348968.4_5'UTR|DHX30_ENST00000476446.1_3'UTR	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	16						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		ccagcacaggcagcgtcagtg	0.607																																						ENST00000445061.1																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(46-48)Cag>Tag		DEAH (Asp-Glu-Ala-His) box helicase 30							162	146	151					3																	47859529		2203	4300	6503	SO:0001587	stop_gained	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47859529C>T	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"DEAH-boxes"	16716	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30", "DEAH (Asp-Glu-Ala-His) box polypeptide 30"	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.46C>T	3.37:g.47859529C>T	ENSP00000405620:p.Gln16*					DHX30_ENST00000446256.2_5'UTR|DHX30_ENST00000476446.1_3'UTR|DHX30_ENST00000348968.4_5'UTR	p.Q16*	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	4	453	+			16					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Nonsense_Mutation	SNP	ENST00000445061.1	37	c.46C>T	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	C	35	5.493949	0.96339	.	.	ENSG00000132153	ENST00000445061	.	.	.	5.73	5.73	0.89815	.	1.451470	0.04425	N	0.368273	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.402	0.74849	0.0:1.0:0.0:0.0	.	.	.	.	X	16	.	ENSP00000379094:Q16X	Q	+	1	0	DHX30	47834533	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.549000	0.53681	2.706000	0.92434	0.563000	0.77884	CAG		0.607	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		56	218	0	0	0	1	0	56	218					T	47859529	C	T	47859529	4	4	330	1	0	0	0	0	0	1	0	0	4504	711	25	2	52	2	DHX30	3	47859529	Nonsense_Mutation	SNP	C	TCGA-EM-A3O6-01A-11D-A21Z-08		47859529	150162901	7	7009											
TRH	7200	broad.mit.edu	37	chr3	129695840	129695840	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaggagctgggaagaagaGgaggaggaggaagagagaga	20	2	0	4			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr3:129695840G>A	ENST00000302649.3	+	3	1037	c.510G>A	c.(508-510)gaG>gaA	p.E170E	TRH_ENST00000507066.1_Silent_p.E166E	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	170					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)	p.E170E(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						Gggaagaagaggaggaggagg	0.642																																					Esophageal Squamous(60;321 1330 17401 41911)	ENST00000302649.3																			1	Substitution - coding silent(1)	p.E170E(1)	prostate(1)	NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						c.(508-510)gaG>gaA		thyrotropin-releasing hormone							33	35	34					3																	129695840		2202	4300	6502	SO:0001819	synonymous_variant	7200				cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	g.chr3:129695840G>A		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"Endogenous ligands"	12298	protein-coding gene	gene with protein product	"prothyroliberin"	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.510G>A	3.37:g.129695840G>A						TRH_ENST00000507066.1_Silent_p.E166E	p.E170E	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN			3	1037	+			170					B2R8R1|Q2TB83	Silent	SNP	ENST00000302649.3	37	c.510G>A	CCDS3066.1																																																																																				0.642	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117		3	58	0	0	0	1	0	3	58					A	129695840	G	A	129695840	2	1	330	1	0	0	0	0	0	0	0	1	16475	991	35	2		2	TRH	3	129695840	Silent	SNP	G	TCGA-EM-A3O6-01A-11D-A21Z-08	81836311	129695840	68326590	8	7010											
MARCH6	10299	broad.mit.edu	37	chr5	10390572	10390572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaatttggttggagcatgCtgccccaccgttcaatgctg	10	12	1	0	rs193296973		TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr5:10390572C>T	ENST00000274140.5	+	6	668	c.536C>T	c.(535-537)gCt>gTt	p.A179V	MARCH6_ENST00000449913.2_Missense_Mutation_p.A131V|MARCH6_ENST00000503788.1_Missense_Mutation_p.A74V	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	179					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TTGGAGCATGCTGCCCCACCG	0.488																																						ENST00000274140.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						c.(535-537)gCt>gTt		membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase							118	112	114					5																	10390572		2203	4300	6503	SO:0001583	missense	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10390572C>T	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	30550	protein-coding gene	gene with protein product		613297	"membrane-associated ring finger (C3HC4) 6"			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.536C>T	5.37:g.10390572C>T	ENSP00000274140:p.Ala179Val					MARCH6_ENST00000503788.1_Missense_Mutation_p.A74V|MARCH6_ENST00000449913.2_Missense_Mutation_p.A131V	p.A179V	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN			6	668	+			179					A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	c.536C>T	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.669157	0.47677	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140	T;T;T	0.44482	1.92;0.92;1.94	5.58	3.62	0.41486	.	0.213810	0.47455	D	0.000239	T	0.20740	0.0499	N	0.08118	0	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.10450	0.005;0.001;0.003	T	0.04781	-1.0927	10	0.30078	T	0.28	-12.2215	7.8885	0.29665	0.3942:0.494:0.1118:0.0	.	74;131;179	B4DKJ2;B4DT33;O60337	.;.;MARH6_HUMAN	V	131;74;179	ENSP00000414643:A131V;ENSP00000425930:A74V;ENSP00000274140:A179V	ENSP00000274140:A179V	A	+	2	0	MARCH6	10443572	0.997000	0.39634	0.097000	0.21041	0.964000	0.63967	1.765000	0.38481	1.347000	0.45714	0.650000	0.86243	GCT		0.488	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		20	85	0	0	0	1	0	20	85					T	10390572	C	T	10390572	3	4	330	1	0	0	0	0	1	0	0	0	9305	797	28	2	558	2	MARCH6	5	10390572	Missense_Mutation	SNP	C	TCGA-EM-A3O6-01A-11D-A21Z-08		10390572	170524688	9	7011											
PIK3R1	5295	broad.mit.edu	37	chr5	67592034	67592034	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggaagatgatgaagatttgcCccatcatgatgagaagacat	11	6	1	7			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr5:67592034C>G	ENST00000521381.1	+	15	2466	c.1850C>G	c.(1849-1851)cCc>cGc	p.P617R	PIK3R1_ENST00000274335.5_Missense_Mutation_p.P617R|PIK3R1_ENST00000396611.1_Missense_Mutation_p.P625R|PIK3R1_ENST00000523872.1_Missense_Mutation_p.P254R|PIK3R1_ENST00000320694.8_Missense_Mutation_p.P317R|PIK3R1_ENST00000521657.1_Missense_Mutation_p.P617R|PIK3R1_ENST00000336483.5_Missense_Mutation_p.P347R	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	617					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	GAAGATTTGCCCCATCATGAT	0.488			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		2	Whole gene deletion(1)|Unknown(1)	p.0?(1)|p.?(1)	large_intestine(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1849-1851)cCc>cGc		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)						158	144	149					5																	67592034		2203	4300	6503	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67592034C>G	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1850C>G	5.37:g.67592034C>G	ENSP00000428056:p.Pro617Arg	TCGA GBM(4;<1E-08)				PIK3R1_ENST00000396611.1_Missense_Mutation_p.P625R|PIK3R1_ENST00000336483.5_Missense_Mutation_p.P347R|PIK3R1_ENST00000320694.8_Missense_Mutation_p.P317R|PIK3R1_ENST00000274335.5_Missense_Mutation_p.P617R|PIK3R1_ENST00000521657.1_Missense_Mutation_p.P617R|PIK3R1_ENST00000523872.1_Missense_Mutation_p.P254R	p.P617R	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	15	2466	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	617					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.1850C>G	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.794341	0.70452	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	T;T;T;T;D;D;D	0.83755	-0.57;-0.57;-0.42;-0.57;-1.62;-1.64;-1.76	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.87517	0.6197	M	0.75264	2.295	0.80722	D	1	P;B;D	0.53312	0.578;0.209;0.959	B;B;P	0.49953	0.234;0.127;0.627	D	0.89137	0.3514	10	0.72032	D	0.01	-11.9959	18.8075	0.92043	0.0:1.0:0.0:0.0	.	347;317;617	P27986-2;P27986-3;P27986	.;.;P85A_HUMAN	R	617;617;625;617;317;347;254	ENSP00000428056:P617R;ENSP00000429277:P617R;ENSP00000379855:P625R;ENSP00000274335:P617R;ENSP00000323512:P317R;ENSP00000338554:P347R;ENSP00000430098:P254R	ENSP00000274335:P617R	P	+	2	0	PIK3R1	67627790	1.000000	0.71417	0.998000	0.56505	0.343000	0.28985	7.651000	0.83577	2.689000	0.91719	0.650000	0.86243	CCC		0.488	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		34	91	0	0	0	1	0	34	91					G	67592034	C	G	67592034	3	3	330	1	0	0	0	0	1	0	0	0	11918	623	22	4	2034	4	PIK3R1	5	67592034	Missense_Mutation	SNP	C	TCGA-EM-A3O6-01A-11D-A21Z-08	57201462	67592034	113323226	10	7012											
PDGFRB	5159	broad.mit.edu	37	chr5	149500817	149500817	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccacctggtagctgaagcCcacgaggtccatgtagctta	12	12	0	1			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr5:149500817C>T	ENST00000261799.4	-	17	2882	c.2413G>A	c.(2413-2415)Ggc>Agc	p.G805S		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	805	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TAGCTGAAGCCCACGAGGTCC	0.582			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"																																	ENST00000261799.4				Dom	yes		5	5q31-q32	5159	T	"platelet-derived growth factor receptor, beta polypeptide"			L	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"		"MPD, AML, CMML, CML"		0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75						c.(2413-2415)Ggc>Agc		platelet-derived growth factor receptor, beta polypeptide	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						119	102	108					5																	149500817		2203	4300	6503	SO:0001583	missense	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149500817C>T	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.2413G>A	5.37:g.149500817C>T	ENSP00000261799:p.Gly805Ser						p.G805S	NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		17	2882	-		all_hematologic(541;0.224)	805			Protein kinase.		B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.2413G>A	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.648965	0.47362	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	D	0.81579	-1.51	5.0	5.0	0.66597	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.50627	D	0.000113	T	0.69024	0.3065	N	0.00707	-1.245	0.58432	D	0.999997	B;D	0.89917	0.379;1.0	B;D	0.97110	0.401;1.0	T	0.70107	-0.4963	10	0.02654	T	1	.	18.3011	0.90164	0.0:1.0:0.0:0.0	.	805;805	A8KAM8;P09619	.;PGFRB_HUMAN	S	805;475	ENSP00000261799:G805S	ENSP00000261799:G805S	G	-	1	0	PDGFRB	149481010	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.963000	0.63694	2.319000	0.78375	0.555000	0.69702	GGC		0.582	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		34	75	0	0	0	1	0	34	75					T	149500817	C	T	149500817	3	4	330	1	0	0	0	0	1	0	0	0	11662	623	22	2	935	2	PDGFRB	5	149500817	Missense_Mutation	SNP	C	TCGA-EM-A3O6-01A-11D-A21Z-08	81908783	149500817	31414443	11	7013											
C4A	721	broad.mit.edu	37	chr6	31996293	31996293	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctatgcggcttggttgtcaCggggcagcagcacctggtga	15	11	1	1	rs139543260		TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr6:31996293C>A	ENST00000435363.2	+	25	3298	c.3214C>A	c.(3214-3216)Cgg>Agg	p.R1072R	C4B_ENST00000425700.2_Silent_p.R1072R	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1072					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|detection of molecule of bacterial origin (GO:0032490)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|complement binding (GO:0001848)|endopeptidase inhibitor activity (GO:0004866)									Intravenous Immunoglobulin(DB00028)	TTGGTTGTCACGGGGCAGCAG	0.622																																						ENST00000435363.2																			0											c.(3214-3216)Cgg>Agg		complement component 4B (Chido blood group)							76	62	67					6																	31996293		2166	4200	6366	SO:0001819	synonymous_variant	721				complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity	g.chr6:31996293C>A	AF019413	CCDS47405.1	6p21.3	2014-09-17	2009-01-06		ENSG00000224389	ENSG00000224389		"Blood group antigens", "Complement system"	1324	protein-coding gene	gene with protein product		120820	"complement component 4B"				Standard	NM_001002029		Approved	CPAMD3, C4F, CO4, C4B1, C4B3, CH	uc011jpm.2	P0C0L5	OTTHUMG00000031187	ENST00000435363.2:c.3214C>A	6.37:g.31996293C>A						C4B_ENST00000425700.2_Silent_p.R1072R	p.R1072R	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN			25	3298	+			1072					A2BHY4|P01028|P78445|Q13160|Q13906|Q14033|Q14835|Q6U2E9|Q6U2G1|Q6U2I5|Q6U2L1|Q6U2L7|Q6U2L9|Q6U2M5|Q6VCV8|Q96SA7|Q9NPK5|Q9UIP5	Silent	SNP	ENST00000435363.2	37	c.3214C>A	CCDS47405.1																																																																																				0.622	C4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076368.5	NM_001002029		3	82	1	0	1	1	1	3	82					A	31996293	C	A	31996293	2	1	330	1	0	0	0	0	0	0	0	1	2247	527	19	4		4	C4A	6	31996293	Silent	SNP	C	TCGA-EM-A3O6-01A-11D-A21Z-08		31996293	139118774	12	7014											
MYO6	4646	broad.mit.edu	37	chr6	76551012	76551012	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggcaaagaggaaagaaatTatcatatcttttataggttg	9	3	2	2			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr6:76551012T>C	ENST00000369977.3	+	9	872	c.733T>C	c.(733-735)Tat>Cat	p.Y245H	MYO6_ENST00000369981.3_Missense_Mutation_p.Y245H|MYO6_ENST00000369975.1_Missense_Mutation_p.Y245H|MYO6_ENST00000369985.4_Missense_Mutation_p.Y245H	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	245	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GGAAAGAAATTATCATATCTT	0.353																																						ENST00000369981.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(733-735)Tat>Cat		myosin VI							98	100	99					6																	76551012		2203	4300	6503	SO:0001583	missense	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76551012T>C	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"Myosins / Myosin superfamily : Class VI"	7605	protein-coding gene	gene with protein product		600970	"deafness, autosomal recessive 37"	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.733T>C	6.37:g.76551012T>C	ENSP00000358994:p.Tyr245His					MYO6_ENST00000369985.4_Missense_Mutation_p.Y245H|MYO6_ENST00000369975.1_Missense_Mutation_p.Y245H|MYO6_ENST00000369977.3_Missense_Mutation_p.Y245H	p.Y245H			Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	9	1012	+		all_hematologic(105;0.189)	245			Myosin head-like.		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	c.733T>C	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.306778	0.81247	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.93818	0.8023	H	0.99454	4.575	0.80722	D	1	P;D	0.76494	0.856;0.999	P;D	0.83275	0.591;0.996	D	0.96404	0.9299	10	0.72032	D	0.01	.	15.2732	0.73723	0.0:0.0:0.0:1.0	.	245;245	Q9UM54-2;Q9UM54-1	.;.	H	245	ENSP00000358998:Y245H;ENSP00000359002:Y245H;ENSP00000358994:Y245H;ENSP00000358992:Y245H	ENSP00000358992:Y245H	Y	+	1	0	MYO6	76607732	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.676000	0.84012	2.009000	0.58944	0.460000	0.39030	TAT		0.353	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		4	92	0	0	0	1	0	4	92					C	76551012	T	C	76551012	3	2	330	1	0	0	0	0	1	0	0	0	10081	1754	61	3	763	3	MYO6	6	76551012	Missense_Mutation	SNP	T	TCGA-EM-A3O6-01A-11D-A21Z-08	44554719	76551012	94564055	13	7015											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37728933	37728933	+	Frame_Shift_Del	DEL	T	T	-													gcggagccctctgctgtggcTtttttttgagattctgctgt							TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr8:37728933delT	ENST00000330843.4	-	4	3399	c.3387delA	c.(3385-3387)aaafs	p.K1129fs	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1129					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTGCTGTGGCTTTTTTTTGAG	0.542											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330843.4																			0				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(3385-3387)aafs		RAB11 family interacting protein 1 (class I)							134	143	140					8																	37728933		2203	4300	6503	SO:0001589	frameshift_variant	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37728933delT	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.3387delA	8.37:g.37728933delT	ENSP00000331342:p.Lys1129fs		OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	872	RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000522727.1_Intron	p.K1129fs	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		4	3399	-		Lung NSC(58;0.118)|all_lung(54;0.195)	1129					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Frame_Shift_Del	DEL	ENST00000330843.4	37	c.3387delA	CCDS34882.1																																																																																				0.542	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		7	245						7	245	---	---	---	---	-	37728933	T	-	37728933	7	5	330	1	0	1	0	1	0	0	0	0	12893	1606	56	0	476	0	RAB11FIP1	8	37728933	Frame_Shift_Del	DEL	T	TCGA-EM-A3O6-01A-11D-A21Z-08		37728933	108635089	14	7016											
CSMD3	114788	broad.mit.edu	37	chr8	113259316	113259316	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgcgtgttgtagacccttgGagaaggtgtccttttttgca	13	7	0	2			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr8:113259316G>A	ENST00000297405.5	-	64	10399	c.10155C>T	c.(10153-10155)ctC>ctT	p.L3385L	CSMD3_ENST00000343508.3_Silent_p.L3345L|CSMD3_ENST00000352409.3_Silent_p.L3315L|CSMD3_ENST00000455883.2_Silent_p.L3216L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3385	Sushi 27. {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						TAGACCCTTGGAGAAGGTGTC	0.398										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.(10153-10155)ctC>ctT		CUB and Sushi multiple domains 3							134	119	124					8																	113259316		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113259316G>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.10155C>T	8.37:g.113259316G>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Silent_p.L3345L|CSMD3_ENST00000455883.2_Silent_p.L3216L|CSMD3_ENST00000352409.3_Silent_p.L3315L	p.L3385L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			64	10399	-			3385			Sushi 27.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.10155C>T	CCDS6315.1																																																																																				0.398	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		3	66	0	0	0	1	0	3	66					A	113259316	G	A	113259316	2	1	330	1	0	0	0	0	0	0	0	1	3946	1161	41	2		2	CSMD3	8	113259316	Silent	SNP	G	TCGA-EM-A3O6-01A-11D-A21Z-08	75530383	113259316	33104706	15	7017											
PTEN	5728	broad.mit.edu	37	chr10	89717730	89717730	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gccgttacctgtgtgtggtgAtatcaaagtagagttcttcc	11	8	2	2	rs121909239		TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr10:89717730A>T	ENST00000371953.3	+	7	2112	c.755A>T	c.(754-756)gAt>gTt	p.D252V	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	252	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.		D -> G (in MCEPHAS). {ECO:0000269|PubMed:15805158}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|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 proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.D252G(2)|p.G165_*404del(1)|p.?(1)|p.D252_K263>AKE(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GTGTGTGGTGATATCAAAGTA	0.393		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		51	Whole gene deletion(37)|Deletion - Frameshift(9)|Substitution - Missense(2)|Deletion - In frame(1)|Complex - deletion inframe(1)|Unknown(1)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.D252G(2)|p.G165_*404del(1)|p.?(1)|p.D252_K263>AKE(1)	prostate(16)|central_nervous_system(12)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM051216	PTEN	M	rs121909239	c.(754-756)gAt>gTt		phosphatase and tensin homolog							119	105	110					10																	89717730		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89717730A>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.755A>T	10.37:g.89717730A>T	ENSP00000361021:p.Asp252Val	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_ENST00000472832.1_3'UTR	p.D252V	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	2112	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	252		D -> G (in MCEPHAS).	C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.755A>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.650844	0.87958	.	.	ENSG00000171862	ENST00000371953	D	0.99214	-5.57	5.15	5.15	0.70609	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.092939	0.64402	D	0.000001	D	0.99351	0.9772	M	0.85542	2.76	0.80722	D	1	D	0.69078	0.997	D	0.65874	0.939	D	0.98880	1.0769	9	.	.	.	-9.9468	14.9657	0.71193	1.0:0.0:0.0:0.0	.	252	P60484	PTEN_HUMAN	V	252	ENSP00000361021:D252V	.	D	+	2	0	PTEN	89707710	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.918000	0.92759	1.928000	0.55862	0.477000	0.44152	GAT		0.393	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		33	32	0	0	0	1	0	33	32					T	89717730	A	T	89717730	3	4	330	1	0	0	0	0	1	0	0	0	12738	333	12	5	781	5	PTEN	10	89717730	Missense_Mutation	SNP	A	TCGA-EM-A3O6-01A-11D-A21Z-08		89717730	45817017	16	7018											
APAF1	317	broad.mit.edu	37	chr12	99121092	99121092	+	Frame_Shift_Del	DEL	A	A	-													tctctgctggaggatatattAaggtaagagttccccaagaa							TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr12:99121092delA	ENST00000551964.1	+	26	4334	c.3598delA	c.(3598-3600)aagfs	p.K1200fs	APAF1_ENST00000550527.1_Frame_Shift_Del_p.K1189fs|APAF1_ENST00000357310.1_Frame_Shift_Del_p.K1157fs|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000359972.2_Frame_Shift_Del_p.K1146fs|APAF1_ENST00000339433.3_Frame_Shift_Del_p.K1115fs|APAF1_ENST00000547045.1_Frame_Shift_Del_p.K1157fs|APAF1_ENST00000549007.1_Frame_Shift_Del_p.K1115fs	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	1200					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	AGGATATATTAAGGTAAGAGT	0.428																																						ENST00000357310.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42						c.(3469-3471)agfs		apoptotic peptidase activating factor 1	Adenosine triphosphate(DB00171)						60	62	61					12																	99121092		2203	4300	6503	SO:0001589	frameshift_variant	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99121092delA	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"WD repeat domain containing"	576	protein-coding gene	gene with protein product		602233	"apoptotic protease activating factor", "apoptotic peptidase activating factor"			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.3598delA	12.37:g.99121092delA	ENSP00000448165:p.Lys1200fs					APAF1_ENST00000549007.1_Frame_Shift_Del_p.K1115fs|APAF1_ENST00000339433.3_Frame_Shift_Del_p.K1115fs|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000547045.1_Frame_Shift_Del_p.K1157fs|APAF1_ENST00000550527.1_Frame_Shift_Del_p.K1189fs|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000551964.1_Frame_Shift_Del_p.K1200fs|APAF1_ENST00000359972.2_Frame_Shift_Del_p.K1146fs	p.K1157fs	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN			25	4046	+			1200					B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Frame_Shift_Del	DEL	ENST00000551964.1	37	c.3469delA	CCDS9069.1																																																																																				0.428	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		41	69						41	69	---	---	---	---	-	99121092	A	-	99121092	7	5	330	1	0	1	0	1	0	0	0	0	755	363	13	0	3696	0	APAF1	12	99121092	Frame_Shift_Del	DEL	A	TCGA-EM-A3O6-01A-11D-A21Z-08		99121092	34730803	17	7019											
COL4A1	1282	broad.mit.edu	37	chr13	110857850	110857850	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaacacttacgggactcccTttttcccctttgtcaccatc	5	15	1	0			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr13:110857850T>C	ENST00000375820.4	-	16	1015	c.894A>G	c.(892-894)aaA>aaG	p.K298K	COL4A1_ENST00000543140.1_Silent_p.K298K	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	298	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CGGGACTCCCTTTTTCCCCTT	0.463																																						ENST00000375820.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(892-894)aaA>aaG		collagen, type IV, alpha 1							150	175	166					13																	110857850		2203	4300	6503	SO:0001819	synonymous_variant	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110857850T>C	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.894A>G	13.37:g.110857850T>C						COL4A1_ENST00000543140.1_Silent_p.K298K	p.K298K	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		16	1015	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	298			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	ENST00000375820.4	37	c.894A>G	CCDS9511.1																																																																																				0.463	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			5	293	0	0	0	1	0	5	293					C	110857850	T	C	110857850	2	2	330	1	0	0	0	0	0	0	0	1	3689	1606	56	3		3	COL4A1	13	110857850	Silent	SNP	T	TCGA-EM-A3O6-01A-11D-A21Z-08		110857850	4312028	18	7020											
SALL3	27164	broad.mit.edu	37	chr18	76752542	76752543	+	Frame_Shift_Del	DEL	GC	GC	-													ggtggcgcagttctcgcaggGcgcgcgcgcggcaggcggct							TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr18:76752542_76752543delGC	ENST00000537592.2	+	2	551_552	c.551_552delGC	c.(550-552)ggcfs	p.G184fs	SALL3_ENST00000575389.2_Frame_Shift_Del_p.G184fs|SALL3_ENST00000536229.3_Frame_Shift_Del_p.G51fs	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	184					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|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.G184G(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TTCTCGCAGGGCGCGCGCGCGG	0.728																																						ENST00000536229.3																			1	Substitution - coding silent(1)	p.G184G(1)	lung(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(151-153)gfs		spalt-like transcription factor 3				78,2960		14,50,1455						1.8	0.1			4	415,5753		73,269,2742	no	frameshift	SALL3	NM_171999.2		87,319,4197	A1A1,A1R,RR		6.7283,2.5675,5.3552				493,8713				SO:0001589	frameshift_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76752542_76752543delGC	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.551_552delGC	18.37:g.76752550_76752551delGC	ENSP00000441823:p.Gly184fs					SALL3_ENST00000537592.2_Frame_Shift_Del_p.G184fs|SALL3_ENST00000575389.2_Frame_Shift_Del_p.G184fs	p.G51fs			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	1	861_862	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	184					Q9UGH1	Frame_Shift_Del	DEL	ENST00000537592.2	37	c.152_153delGC	CCDS12013.1																																																																																				0.728	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		4	2						4	2	---	---	---	---	-	76752543	GC	-	76752542	7	5	330	1	0	1	0	1	0	0	0	0	13812	1203	42	0	557	0	SALL3	18	76752542	Frame_Shift_Del	DEL	GC	TCGA-EM-A3O6-01A-11D-A21Z-08		76752542	1324706	19	7021											
LENG8	114823	broad.mit.edu	37	chr19	54963317	54963317	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggccgagagaatggcaTggagacgccgatgcacgaga	17	9	0	3			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr19:54963317T>C	ENST00000326764.5	+	3	565	c.86T>C	c.(85-87)aTg>aCg	p.M29T	LENG8_ENST00000376514.2_Missense_Mutation_p.M29T	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	0										breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GAGAATGGCATGGAGACGCCG	0.617																																						ENST00000326764.5																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(85-87)aTg>aCg		leukocyte receptor cluster (LRC) member 8							83	82	82					19																	54963317		2203	4300	6503	SO:0001583	missense	114823						protein binding	g.chr19:54963317T>C	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.86T>C	19.37:g.54963317T>C	ENSP00000318374:p.Met29Thr					LENG8_ENST00000376514.2_Missense_Mutation_p.M29T	p.M29T	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	3	565	+	Ovarian(34;0.19)		29					B0VJY9|Q8IZ27|Q8NCX6	Missense_Mutation	SNP	ENST00000326764.5	37	c.86T>C	CCDS12894.1	.	.	.	.	.	.	.	.	.	.	T	14.51	2.558324	0.45590	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000439657;ENST00000376514;ENST00000376526;ENST00000436479;ENST00000443957;ENST00000431846	T;T;T;T	0.47869	1.41;0.83;1.34;1.35	4.91	4.91	0.64330	.	0.169343	0.49916	D	0.000139	T	0.45558	0.1348	L	0.50333	1.59	0.33178	D	0.549151	B;B	0.32160	0.13;0.358	B;B	0.35971	0.069;0.215	T	0.63024	-0.6729	10	0.72032	D	0.01	-23.1417	12.8068	0.57618	0.0:0.0:0.0:1.0	.	29;29	Q96PV6-2;F8W9Q9	.;.	T	29;29;29;29;29;11;29;29	ENSP00000318374:M29T;ENSP00000399507:M29T;ENSP00000365709:M29T;ENSP00000388053:M29T	ENSP00000301196:M29T	M	+	2	0	LENG8	59655129	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.039000	0.49791	1.988000	0.58038	0.459000	0.35465	ATG		0.617	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925		4	125	0	0	0	1	0	4	125					C	54963317	T	C	54963317	3	2	330	1	0	0	0	0	1	0	0	0	8724	1464	51	3	92	3	LENG8	19	54963317	Missense_Mutation	SNP	T	TCGA-EM-A3O6-01A-11D-A21Z-08		54963317	4165666	20	7022											
ACSS1	84532	broad.mit.edu	37	chr20	24988532	24988532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgatcttcctcaggagccGccgcatgaccttcccagacc	9	16	2	3	rs371113008		TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr20:24988532G>A	ENST00000323482.4	-	14	2015	c.1936C>T	c.(1936-1938)Cgg>Tgg	p.R646W	ACSS1_ENST00000432802.2_Intron|ACSS1_ENST00000484396.1_5'UTR|ACSS1_ENST00000537502.1_Missense_Mutation_p.R563W|ACSS1_ENST00000542618.1_Missense_Mutation_p.R525W	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	646					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTCAGGAGCCGCCGCATGACC	0.567																																						ENST00000537502.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1687-1689)Cgg>Tgg		acyl-CoA synthetase short-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	G	TRP/ARG	0,4406		0,0,2203	102	84	90		1936	2.6	1.0	20		90	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACSS1	NM_032501.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	646/690	24988532	1,13005	2203	4300	6503	SO:0001583	missense	84532				acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding	g.chr20:24988532G>A		CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"Acyl-CoA synthetase family"	16091	protein-coding gene	gene with protein product		614355	"acetyl-Coenzyme A synthetase 2 (AMP forming)-like"	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.1936C>T	20.37:g.24988532G>A	ENSP00000316924:p.Arg646Trp					ACSS1_ENST00000432802.2_Intron|ACSS1_ENST00000323482.4_Missense_Mutation_p.R646W|ACSS1_ENST00000542618.1_Missense_Mutation_p.R525W|ACSS1_ENST00000484396.1_5'UTR	p.R563W			Q9NUB1	ACS2L_HUMAN			12	3218	-			646					B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Missense_Mutation	SNP	ENST00000323482.4	37	c.1687C>T	CCDS13167.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779899	0.70222	0.0	1.16E-4	ENSG00000154930	ENST00000323482;ENST00000376727;ENST00000537502;ENST00000542618	T;T;T	0.55234	0.53;0.53;0.53	5.78	2.57	0.30868	.	0.055148	0.64402	D	0.000001	T	0.80053	0.4553	H	0.96333	3.805	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.991;1.0;1.0;1.0	D	0.84883	0.0832	10	0.87932	D	0	-29.8871	14.1574	0.65426	0.0:0.0:0.3486:0.6513	.	441;644;646;563	E9PC79;Q9NUB1-2;Q9NUB1;Q6ZV30	.;.;ACS2L_HUMAN;.	W	646;441;563;525	ENSP00000316924:R646W;ENSP00000439304:R563W;ENSP00000437657:R525W	ENSP00000316924:R646W	R	-	1	2	ACSS1	24936532	0.988000	0.35896	0.999000	0.59377	0.836000	0.47400	0.806000	0.27126	0.229000	0.21039	-0.181000	0.13052	CGG		0.567	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2	NM_032501		3	75	0	0	0	1	0	3	75					A	24988532	G	A	24988532	3	1	330	1	0	0	0	0	1	0	0	0	188	1086	38	1	137	1	ACSS1	20	24988532	Missense_Mutation	SNP	G	TCGA-EM-A3O6-01A-11D-A21Z-08		24988532	38036988	21	7023											
KRTAP27-1	643812	broad.mit.edu	37	chr21	31709485	31709485	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctacaggaactggattcagGgttctgagactgacactgac	11	9	3	3			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr21:31709485G>C	ENST00000382835.2	-	1	527	c.502C>G	c.(502-504)Cct>Gct	p.P168A		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	168						intermediate filament (GO:0005882)				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						CTGGATTCAGGGTTCTGAGAC	0.478																																						ENST00000382835.2																			0				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						c.(502-504)Cct>Gct		keratin associated protein 27-1							127	121	123					21																	31709485		2203	4300	6503	SO:0001583	missense	643812					intermediate filament		g.chr21:31709485G>C	AB096937	CCDS33532.1	21q22.11	2007-11-23			ENSG00000206107	ENSG00000206107		"Keratin associated proteins"	33864	protein-coding gene	gene with protein product							Standard	NM_001077711		Approved		uc002ynx.1	Q3LI81	OTTHUMG00000059577	ENST00000382835.2:c.502C>G	21.37:g.31709485G>C	ENSP00000372286:p.Pro168Ala						p.P168A	NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN			1	527	-			168						Missense_Mutation	SNP	ENST00000382835.2	37	c.502C>G	CCDS33532.1	.	.	.	.	.	.	.	.	.	.	G	9.098	1.003480	0.19121	.	.	ENSG00000206107	ENST00000382835	T	0.03035	4.07	4.44	-4.86	0.03132	.	0.768720	0.11352	N	0.572873	T	0.04272	0.0118	L	0.40543	1.245	0.09310	N	1	P	0.39216	0.664	B	0.42030	0.373	T	0.10965	-1.0607	10	0.30854	T	0.27	0.0248	12.7862	0.57507	0.7507:0.0:0.2493:0.0	.	168	Q3LI81	KR271_HUMAN	A	168	ENSP00000372286:P168A	ENSP00000372286:P168A	P	-	1	0	KRTAP27-1	30631356	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.278000	0.02809	-1.183000	0.02723	-0.237000	0.12165	CCT		0.478	KRTAP27-1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132470.3	NM_001077711		5	113	0	0	0	1	0	5	113					C	31709485	G	C	31709485	3	2	330	1	0	0	0	0	1	0	0	0	8544	1232	43	4	125	4	KRTAP27-1	21	31709485	Missense_Mutation	SNP	G	TCGA-EM-A3O6-01A-11D-A21Z-08		31709485	16420410	22	7024											
TCF20	6942	broad.mit.edu	37	chr22	42610592	42610592	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggaggaggaggaggaggaGgaagcagaagactgatagtg	20	2	0	3			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr22:42610592G>A	ENST00000359486.3	-	1	856	c.720C>T	c.(718-720)tcC>tcT	p.S240S	TCF20_ENST00000335626.4_Silent_p.S240S	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	240	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						aggaggaggaggaAGCAGAAG	0.512																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(718-720)tcC>tcT		transcription factor 20 (AR1)							97	82	87					22																	42610592		2203	4300	6503	SO:0001819	synonymous_variant	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42610592G>A	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.720C>T	22.37:g.42610592G>A						TCF20_ENST00000335626.4_Silent_p.S240S	p.S240S	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	856	-			240			Ser-rich.		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	ENST00000359486.3	37	c.720C>T	CCDS14033.1																																																																																				0.512	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		3	70	0	0	0	1	0	3	70					A	42610592	G	A	42610592	2	1	330	1	0	0	0	0	0	0	0	1	15687	987	35	2		2	TCF20	22	42610592	Silent	SNP	G	TCGA-EM-A3O6-01A-11D-A21Z-08		42610592	8693974	23	7025											
PHF8	23133	broad.mit.edu	37	chrX	54048691	54048691	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actggaggcagggttcctcaCctgtcaaaagtcctactccg	10	13	2	0			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chrX:54048691C>A	ENST00000357988.5	-	4	760		c.e4+1		PHF8_ENST00000322659.8_Splice_Site|PHF8_ENST00000338154.6_Splice_Site|PHF8_ENST00000338946.6_Splice_Site	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8						brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|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)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GGGTTCCTCACCTGTCAAAAG	0.572																																						ENST00000338154.6																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.e4+1		PHD finger protein 8							99	85	90					X																	54048691		2203	4300	6503	SO:0001630	splice_region_variant	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54048691C>A	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	20672	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1F"	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.401+1G>T	X.37:g.54048691C>A						PHF8_ENST00000322659.8_Splice_Site|PHF8_ENST00000357988.5_Splice_Site|PHF8_ENST00000338946.6_Splice_Site		NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN			4	798	-								B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Splice_Site	SNP	ENST00000357988.5	37		CCDS55420.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848703	0.71603	.	.	ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000396282;ENST00000322659;ENST00000425862;ENST00000437224;ENST00000415025;ENST00000453905	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8256	0.78703	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PHF8	54065416	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	6.781000	0.75068	2.335000	0.79485	0.600000	0.82982	.		0.572	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107	Intron	32	82	1	0	2.46105e-21	1	2.53344e-21	32	82					A	54048691	C	A	54048691	5	1	330	1	0	0	0	0	0	0	1	0	11840	521	18	4	3026	4	PHF8	23	54048691	Splice_Site	SNP	C	TCGA-EM-A3O6-01A-11D-A21Z-08		54048691	101221869	24	7026											
PIP5K1A	8394	broad.mit.edu	37	chr1	151196719	151196719	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgtttttttttcccccctAgcagcatctggaatcaagag	7	10	2	1			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr1:151196719A>G	ENST00000368888.4	+	2	507		c.e2-1		PIP5K1A_ENST00000409426.1_Splice_Site|PIP5K1A_ENST00000441902.2_Splice_Site|PIP5K1A_ENST00000368890.4_Intron	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha						actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTTCCCCCCTAGCAGCATCTG	0.383																																					Pancreas(80;36 1443 2325 16095 21302)	ENST00000409426.1																			0				breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5						c.e2-1		phosphatidylinositol-4-phosphate 5-kinase, type I, alpha							217	206	210					1																	151196719		2203	4300	6503	SO:0001630	splice_region_variant	8394				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding	g.chr1:151196719A>G	U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351	ENST00000368888.4:c.86-1A>G	1.37:g.151196719A>G						PIP5K1A_ENST00000368888.4_Splice_Site|PIP5K1A_ENST00000441902.2_Splice_Site|PIP5K1A_ENST00000368890.4_Intron				Q99755	PI51A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	530	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)							A8K4Q0|B4DIN0|Q99754|Q99756	Splice_Site	SNP	ENST00000368888.4	37		CCDS44219.1	.	.	.	.	.	.	.	.	.	.	A	3.738	-0.054232	0.07362	.	.	ENSG00000143398	ENST00000409426;ENST00000441902;ENST00000368888	.	.	.	4.36	3.23	0.37069	.	.	.	.	.	.	.	.	.	.	.	0.36825	D	0.886572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5007	0.22168	0.8927:0.0:0.1073:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PIP5K1A	149463343	0.556000	0.26538	0.475000	0.27278	0.083000	0.17756	0.688000	0.25422	1.018000	0.39521	0.409000	0.27619	.		0.383	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034425.2	NM_003557	Intron	3	126	0	0	0	1	0	3	126					G	151196719	A	G	151196719	5	3	331	1	0	0	0	0	0	0	1	0	11939	434	15	3	90	3	PIP5K1A	1	151196719	Splice_Site	SNP	A	TCGA-EM-A3O7-01A-11D-A21Z-08		151196719	98053902	1	7027											
POGZ	23126	broad.mit.edu	37	chr1	151377730	151377730	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcatacatctaatggctgaaTtttggagctacagcctgctg	10	9	1	1			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr1:151377730T>A	ENST00000271715.2	-	19	4095	c.3781A>T	c.(3781-3783)Att>Ttt	p.I1261F	POGZ_ENST00000531094.1_Missense_Mutation_p.I1199F|POGZ_ENST00000392723.1_Missense_Mutation_p.I1208F|POGZ_ENST00000368863.2_Missense_Mutation_p.I1166F|POGZ_ENST00000409503.1_Missense_Mutation_p.I1252F|POGZ_ENST00000361398.3_Missense_Mutation_p.I1208F|POGZ_ENST00000491586.1_Missense_Mutation_p.I1217F|POGZ_ENST00000540984.1_Missense_Mutation_p.I623F	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1261	DDE.				kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AATGGCTGAATTTTGGAGCTA	0.468																																						ENST00000271715.2																			0				NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47						c.(3781-3783)Att>Ttt		pogo transposable element with ZNF domain							138	139	139					1																	151377730		2203	4300	6503	SO:0001583	missense	23126				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	g.chr1:151377730T>A	AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"zinc finger protein 280E", "putative protein product of Nbla00003"	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.3781A>T	1.37:g.151377730T>A	ENSP00000271715:p.Ile1261Phe					POGZ_ENST00000409503.1_Missense_Mutation_p.I1252F|POGZ_ENST00000392723.1_Missense_Mutation_p.I1208F|POGZ_ENST00000368863.2_Missense_Mutation_p.I1166F|POGZ_ENST00000361398.3_Missense_Mutation_p.I1208F|POGZ_ENST00000540984.1_Missense_Mutation_p.I623F|POGZ_ENST00000531094.1_Missense_Mutation_p.I1199F|POGZ_ENST00000491586.1_Missense_Mutation_p.I1217F	p.I1261F	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		19	4095	-	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		1261			DDE.		B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	ENST00000271715.2	37	c.3781A>T	CCDS997.1	.	.	.	.	.	.	.	.	.	.	T	13.77	2.335561	0.41398	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000540984;ENST00000491586	T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	5.85	4.73	0.59995	.	0.000000	0.64402	D	0.000001	T	0.32941	0.0846	N	0.14661	0.345	0.40975	D	0.98473	D;D;D;D;D;D	0.58970	0.968;0.961;0.984;0.984;0.96;0.961	D;P;D;D;D;P	0.70487	0.969;0.757;0.964;0.964;0.948;0.757	T	0.33137	-0.9880	10	0.54805	T	0.06	-23.1408	10.3222	0.43773	0.0:0.0773:0.0:0.9227	.	1199;1252;1166;1217;1208;1261	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	F	1208;1261;1208;1166;1252;1199;623;1217	ENSP00000376484:I1208F;ENSP00000271715:I1261F;ENSP00000354467:I1208F;ENSP00000357856:I1166F;ENSP00000386836:I1252F;ENSP00000431259:I1199F;ENSP00000443547:I623F;ENSP00000418408:I1217F	ENSP00000271715:I1261F	I	-	1	0	POGZ	149644354	1.000000	0.71417	1.000000	0.80357	0.602000	0.36980	3.107000	0.50329	2.235000	0.73313	0.402000	0.26972	ATT		0.468	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		8	192	0	0	0	1	0	8	192					A	151377730	T	A	151377730	3	1	331	1	0	0	0	0	1	0	0	0	12186	1493	52	5	455	5	POGZ	1	151377730	Missense_Mutation	SNP	T	TCGA-EM-A3O7-01A-11D-A21Z-08	181011	151377730	97872891	2	7028											
ARHGEF2	9181	broad.mit.edu	37	chr1	155932417	155932417	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaagcgtttgtctcgggcGtacagctccttatagagctt	12	9	1	1	rs370489054		TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr1:155932417G>A	ENST00000361247.4	-	9	1167	c.1068C>T	c.(1066-1068)taC>taT	p.Y356Y	ARHGEF2_ENST00000313667.4_Silent_p.Y355Y|ARHGEF2_ENST00000462460.2_Silent_p.Y401Y|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000368316.1_Silent_p.Y328Y|ARHGEF2_ENST00000313695.7_Silent_p.Y328Y|ARHGEF2_ENST00000368315.4_Silent_p.Y357Y	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	356	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGTCTCGGGCGTACAGCTCCT	0.557																																					Melanoma(178;35 2768 6610 28839)	ENST00000368316.1																			0				breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40						c.(982-984)taC>taT		Rho/Rac guanine nucleotide exchange factor (GEF) 2		G	,,	1,4405	2.1+/-5.4	0,1,2202	87	88	88		1068,1065,984	-7.2	0.8	1		88	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	ARHGEF2	NM_001162383.1,NM_001162384.1,NM_004723.3	,,	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	,,	356/987,355/986,328/959	155932417	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	g.chr1:155932417G>A	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	682	protein-coding gene	gene with protein product		607560	"rho/rac guanine nucleotide exchange factor (GEF) 2"			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.1068C>T	1.37:g.155932417G>A						ARHGEF2_ENST00000313667.4_Silent_p.Y355Y|ARHGEF2_ENST00000361247.4_Silent_p.Y356Y|ARHGEF2_ENST00000313695.7_Silent_p.Y328Y|ARHGEF2_ENST00000368315.3_Silent_p.Y357Y	p.Y328Y			Q92974	ARHG2_HUMAN			13	1454	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		356			DH.		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Silent	SNP	ENST00000361247.4	37	c.984C>T	CCDS53376.1																																																																																				0.557	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		3	68	0	0	0	1	0	3	68					A	155932417	G	A	155932417	2	1	331	1	0	0	0	0	0	0	0	1	903	1140	40	1		1	ARHGEF2	1	155932417	Silent	SNP	G	TCGA-EM-A3O7-01A-11D-A21Z-08	4554687	155932417	93318204	3	7029											
TRIM67	440730	broad.mit.edu	37	chr1	231299576	231299576	+	Frame_Shift_Del	DEL	G	G	-													tgcaagagcccgggaggcgcGggggcgggggcgactggggg							TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr1:231299576delG	ENST00000366653.5	+	1	861	c.861delG	c.(859-861)gcgfs	p.A287fs	TRIM67_ENST00000449018.3_Frame_Shift_Del_p.A225fs|TRIM67_ENST00000366652.2_Frame_Shift_Del_p.A287fs|TRIM67_ENST00000444294.3_Frame_Shift_Del_p.A287fs			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	287					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CGGGAGGCGCGGGGGCGGGGG	0.756																																						ENST00000444294.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(859-861)gcfs		tripartite motif containing 67																																				SO:0001589	frameshift_variant	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231299576delG	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"Tripartite motif containing / Tripartite motif containing", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	31859	protein-coding gene	gene with protein product		610584	"tripartite motif-containing 67"				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.861delG	1.37:g.231299576delG	ENSP00000355613:p.Ala287fs					TRIM67_ENST00000366652.2_Frame_Shift_Del_p.A287fs|TRIM67_ENST00000449018.3_Frame_Shift_Del_p.A225fs|TRIM67_ENST00000366653.5_Frame_Shift_Del_p.A287fs	p.A287fs	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN			1	1719	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	287					Q5TER7|Q5TER8|Q7Z4K7	Frame_Shift_Del	DEL	ENST00000366653.5	37	c.861delG	CCDS44333.1																																																																																				0.756	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		2	4						2	4	---	---	---	---	-	231299576	G	-	231299576	7	5	331	1	0	1	0	1	0	0	0	0	16537	1103	39	0	863	0	TRIM67	1	231299576	Frame_Shift_Del	DEL	G	TCGA-EM-A3O7-01A-11D-A21Z-08	75367159	231299576	17951045	4	7030											
FAM123C	205147	broad.mit.edu	37	chr2	131521451	131521451	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagggatgcctctcgagaGgaagagacacgaggtcactc	13	11	2	2			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr2:131521451G>A	ENST00000423981.1	+	2	1916	c.1806G>A	c.(1804-1806)gaG>gaA	p.E602E	AMER3_ENST00000321420.4_Silent_p.E602E	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	602					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										CCTCTCGAGAGGAAGAGACAC	0.592																																						ENST00000423981.1																			0											c.(1804-1806)gaG>gaA		APC membrane recruitment protein 3							70	75	73					2																	131521451		2203	4300	6503	SO:0001819	synonymous_variant	205147							g.chr2:131521451G>A	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"-"	26771	protein-coding gene	gene with protein product			"family with sequence similarity 123C"	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1806G>A	2.37:g.131521451G>A						AMER3_ENST00000321420.4_Silent_p.E602E	p.E602E	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2					2	1916	+								B7ZLH6	Silent	SNP	ENST00000423981.1	37	c.1806G>A	CCDS2164.1																																																																																				0.592	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		3	86	0	0	0	1	0	3	86					A	131521451	G	A	131521451	2	1	331	1	0	0	0	0	0	0	0	1	5424	991	35	2		2	FAM123C	2	131521451	Silent	SNP	G	TCGA-EM-A3O7-01A-11D-A21Z-08		131521451	111677922	5	7031											
WIPF1	7456	broad.mit.edu	37	chr2	175437077	175437077	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctgtggcctggagaaggCacaggaaacctccctgggcc	13	13	1	1			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr2:175437077C>T	ENST00000392547.2	-	5	555	c.456G>A	c.(454-456)gtG>gtA	p.V152V	AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000359761.3_Silent_p.V152V|WIPF1_ENST00000272746.5_Silent_p.V152V|WIPF1_ENST00000467149.1_5'Flank|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409891.1_Silent_p.V152V|AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000409415.3_Silent_p.V152V|WIPF1_ENST00000392546.2_Silent_p.V152V	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	152					actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						CTGGAGAAGGCACAGGAAACC	0.602																																						ENST00000392547.2																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						c.(454-456)gtG>gtA		WAS/WASL interacting protein family, member 1							43	50	48					2																	175437077		2203	4300	6503	SO:0001819	synonymous_variant	7456				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	g.chr2:175437077C>T	AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"Wiskott-Aldrich syndrome protein interacting protein"	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.456G>A	2.37:g.175437077C>T						WIPF1_ENST00000409891.1_Silent_p.V152V|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000272746.5_Silent_p.V152V|WIPF1_ENST00000392546.2_Silent_p.V152V|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000359761.3_Silent_p.V152V|WIPF1_ENST00000409415.3_Silent_p.V152V	p.V152V	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN			5	555	-			152					B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Silent	SNP	ENST00000392547.2	37	c.456G>A	CCDS2260.1																																																																																				0.602	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387		6	42	0	0	0	1	0	6	42					T	175437077	C	T	175437077	2	4	331	1	0	0	0	0	0	0	0	1	17364	697	25	2		2	WIPF1	2	175437077	Silent	SNP	C	TCGA-EM-A3O7-01A-11D-A21Z-08	43915626	175437077	67762296	6	7032											
SESTD1	91404	broad.mit.edu	37	chr2	179997121	179997121	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccactgggctcttagttgTtctgatccaggcccttctag	9	14	3	1			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr2:179997121T>C	ENST00000428443.3	-	10	1198	c.882A>G	c.(880-882)gaA>gaG	p.E294E		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	294							phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTCTTAGTTGTTCTGATCCAG	0.443																																						ENST00000428443.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30						c.(880-882)gaA>gaG		SEC14 and spectrin domains 1							125	133	130					2																	179997121		2203	4300	6503	SO:0001819	synonymous_variant	91404				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding	g.chr2:179997121T>C	AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.882A>G	2.37:g.179997121T>C							p.E294E	NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)		10	1198	-			294					Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Silent	SNP	ENST00000428443.3	37	c.882A>G	CCDS33338.1																																																																																				0.443	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	NM_178123		4	142	0	0	0	1	0	4	142					C	179997121	T	C	179997121	2	2	331	1	0	0	0	0	0	0	0	1	14127	1722	60	3		3	SESTD1	2	179997121	Silent	SNP	T	TCGA-EM-A3O7-01A-11D-A21Z-08	4560044	179997121	63202252	7	7033											
TNS1	7145	broad.mit.edu	37	chr2	218713453	218713453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtccagaggagggcacagccGagccccctgctgggcgggac	17	14	0	1	rs376414331		TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr2:218713453G>A	ENST00000171887.4	-	17	1864	c.1412C>T	c.(1411-1413)tCg>tTg	p.S471L	TNS1_ENST00000430930.1_Missense_Mutation_p.S471L|TNS1_ENST00000480665.1_5'UTR|TNS1_ENST00000419504.1_Missense_Mutation_p.S471L	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	471					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGGCACAGCCGAGCCCCCTGC	0.632																																						ENST00000171887.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(1411-1413)tCg>tTg		tensin 1		G	LEU/SER	2,4404	4.2+/-10.8	0,2,2201	64	67	66		1412	3.1	0.0	2		66	0,8600		0,0,4300	no	missense	TNS1	NM_022648.4	145	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	471/1736	218713453	2,13004	2203	4300	6503	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218713453G>A	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1412C>T	2.37:g.218713453G>A	ENSP00000171887:p.Ser471Leu					TNS1_ENST00000480665.1_5'UTR|TNS1_ENST00000419504.1_Missense_Mutation_p.S471L|TNS1_ENST00000430930.1_Missense_Mutation_p.S471L	p.S471L	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	17	1864	-		Renal(207;0.0483)|Lung NSC(271;0.213)	471					Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.1412C>T	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	G	0.053	-1.244118	0.01481	4.54E-4	0.0	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903	D;D;D;D	0.93859	-2.79;-2.79;-2.79;-3.3	4.9	3.1	0.35709	.	0.424346	0.21661	N	0.071019	D	0.85561	0.5725	L	0.29908	0.895	0.09310	N	0.999997	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.69859	-0.5031	10	0.18710	T	0.47	.	5.8788	0.18844	0.0891:0.0:0.5727:0.3382	.	471;525;471;471;471	B2RU35;A1L0S7;Q9HBL0;E9PGF5;E9PF55	.;.;TENS1_HUMAN;.;.	L	471;471;471;596	ENSP00000171887:S471L;ENSP00000408724:S471L;ENSP00000406016:S471L;ENSP00000405460:S596L	ENSP00000171887:S471L	S	-	2	0	TNS1	218421698	0.146000	0.22672	0.005000	0.12908	0.012000	0.07955	1.304000	0.33482	0.671000	0.31185	-1.288000	0.01363	TCG		0.632	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		3	92	0	0	0	1	0	3	92					A	218713453	G	A	218713453	3	1	331	1	0	0	0	0	1	0	0	0	16340	1059	37	1	3863	1	TNS1	2	218713453	Missense_Mutation	SNP	G	TCGA-EM-A3O7-01A-11D-A21Z-08	38716332	218713453	24485920	8	7034											
LARS2	23395	broad.mit.edu	37	chr3	45533062	45533062	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgactcagaaagcccgGgggaagagagtgggtggaga	18	8	1	4			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr3:45533062G>A	ENST00000415258.1	+	12	1434	c.1293G>A	c.(1291-1293)cgG>cgA	p.R431R	LARS2-AS1_ENST00000442534.2_RNA|LARS2_ENST00000265537.3_Silent_p.R431R|LARS2_ENST00000414984.1_Silent_p.R388R			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	431					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	AGAAAGCCCGGGGGAAGAGAG	0.542																																						ENST00000415258.1																			0				endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(1291-1293)cgG>cgA		leucyl-tRNA synthetase 2, mitochondrial	L-Leucine(DB00149)						107	108	108					3																	45533062		2203	4300	6503	SO:0001819	synonymous_variant	23395				leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity	g.chr3:45533062G>A	AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	17095	protein-coding gene	gene with protein product	"leucine tRNA ligase 2, mitochondrial"	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.1293G>A	3.37:g.45533062G>A						LARS2_ENST00000414984.1_Silent_p.R388R|LARS2_ENST00000265537.3_Silent_p.R431R|LARS2-AS1_ENST00000442534.2_RNA	p.R431R			Q15031	SYLM_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	12	1434	+			431						Silent	SNP	ENST00000415258.1	37	c.1293G>A	CCDS2728.1																																																																																				0.542	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	NM_015340		3	75	0	0	0	1	0	3	75					A	45533062	G	A	45533062	2	1	331	1	0	0	0	0	0	0	0	1	8635	1219	43	2		2	LARS2	3	45533062	Silent	SNP	G	TCGA-EM-A3O7-01A-11D-A21Z-08		45533062	152489368	9	7035											
SLC39A7	7922	broad.mit.edu	37	chr6	33169616	33169616	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tccccggcatcgctctctacTtcagatcttgctcagttttg	7	14	4	1			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr6:33169616T>A	ENST00000374677.3	+	2	879	c.506T>A	c.(505-507)cTt>cAt	p.L169H	RXRB_ENST00000374685.4_5'Flank|RNY4P10_ENST00000365571.1_RNA|HSD17B8_ENST00000374662.3_5'Flank|SLC39A7_ENST00000374675.3_Missense_Mutation_p.L169H|RXRB_ENST00000413614.2_5'Flank|RXRB_ENST00000374680.3_5'Flank|RXRB_ENST00000544186.1_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	169					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CGCTCTCTACTTCAGATCTTG	0.537																																						ENST00000374677.3																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(505-507)cTt>cAt		solute carrier family 39 (zinc transporter), member 7							133	148	143					6																	33169616		1291	2550	3841	SO:0001583	missense	7922					endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity	g.chr6:33169616T>A	AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"Solute carriers"	4927	protein-coding gene	gene with protein product		601416	"HLA class II region expressed gene KE4"	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.506T>A	6.37:g.33169616T>A	ENSP00000363809:p.Leu169His					SLC39A7_ENST00000374675.3_Missense_Mutation_p.L169H	p.L169H	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN			2	879	+			169					B0UXF6|Q5STP8|Q9UIQ0	Missense_Mutation	SNP	ENST00000374677.3	37	c.506T>A	CCDS43453.1	.	.	.	.	.	.	.	.	.	.	T	19.48	3.834830	0.71373	.	.	ENSG00000112473	ENST00000444757;ENST00000374675;ENST00000446283;ENST00000374677	T;T;T	0.59772	0.24;0.24;0.24	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.79446	0.4447	H	0.95884	3.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.85701	0.1313	10	0.87932	D	0	-13.6345	12.4856	0.55871	0.0:0.0:0.0:1.0	.	150;169	B4DVK8;Q92504	.;S39A7_HUMAN	H	79;169;150;169	ENSP00000400978:L79H;ENSP00000363807:L169H;ENSP00000363809:L169H	ENSP00000363807:L169H	L	+	2	0	SLC39A7	33277594	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	6.821000	0.75272	2.056000	0.61249	0.448000	0.29417	CTT		0.537	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	NM_006979		69	63	0	0	0	1	0	69	63					A	33169616	T	A	33169616	3	1	331	1	0	0	0	0	1	0	0	0	14623	1609	56	5	512	5	SLC39A7	6	33169616	Missense_Mutation	SNP	T	TCGA-EM-A3O7-01A-11D-A21Z-08		33169616	137945451	10	7036											
FAM83B	222584	broad.mit.edu	37	chr6	54805631	54805631	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcaggttcctgaaaaccactCagtagccttaaaccaaacta	6	12	1	1			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr6:54805631C>A	ENST00000306858.7	+	5	1978	c.1862C>A	c.(1861-1863)tCa>tAa	p.S621*	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	621										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GAAAACCACTCAGTAGCCTTA	0.398																																						ENST00000306858.7																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(1861-1863)tCa>tAa		family with sequence similarity 83, member B							50	48	49					6																	54805631		2197	4284	6481	SO:0001587	stop_gained	222584							g.chr6:54805631C>A	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 143"	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.1862C>A	6.37:g.54805631C>A	ENSP00000304078:p.Ser621*						p.S621*	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN			5	1978	+	Lung NSC(77;0.0178)|Renal(3;0.122)		621					Q2M1P3|Q96DQ2	Nonsense_Mutation	SNP	ENST00000306858.7	37	c.1862C>A	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.304362	0.40795	.	.	ENSG00000168143	ENST00000306858	.	.	.	5.55	3.67	0.42095	.	0.682891	0.13723	N	0.367229	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.5309	5.5151	0.16902	0.1912:0.6231:0.1059:0.0799	.	.	.	.	X	621	.	ENSP00000304078:S621X	S	+	2	0	FAM83B	54913590	0.000000	0.05858	0.009000	0.14445	0.020000	0.10135	0.379000	0.20585	1.486000	0.48398	0.655000	0.94253	TCA		0.398	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		3	54	1	0	0.115264	1	0.119106	3	54					A	54805631	C	A	54805631	4	1	331	1	0	0	0	0	0	1	0	0	5634	838	29	4	1876	4	FAM83B	6	54805631	Nonsense_Mutation	SNP	C	TCGA-EM-A3O7-01A-11D-A21Z-08	21636015	54805631	116309436	11	7037											
FYN	2534	broad.mit.edu	37	chr6	111983042	111983042	+	Frame_Shift_Del	DEL	T	T	-													tggggcgttcttcagggtccTttttccagcagtggatcatg							TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr6:111983042delT	ENST00000354650.3	-	14	2120	c.1514delA	c.(1513-1515)aagfs	p.K505fs	FYN_ENST00000538466.1_Frame_Shift_Del_p.K502fs|FYN_ENST00000229471.4_Frame_Shift_Del_p.K450fs|FYN_ENST00000368682.3_Frame_Shift_Del_p.K502fs|FYN_ENST00000368667.2_Frame_Shift_Del_p.K505fs|FYN_ENST00000229470.5_Frame_Shift_Del_p.K453fs|FYN_ENST00000368678.4_Frame_Shift_Del_p.K502fs|FYN_ENST00000356013.2_Frame_Shift_Del_p.K450fs	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	505	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	TTCAGGGTCCTTTTTCCAGCA	0.562																																						ENST00000354650.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1513-1515)agfs		FYN oncogene related to SRC, FGR, YES	Dasatinib(DB01254)						150	156	154					6																	111983042		2203	4300	6503	SO:0001589	frameshift_variant	2534				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity	g.chr6:111983042delT	AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"SH2 domain containing"	4037	protein-coding gene	gene with protein product		137025	"FYN oncogene related to SRC, FGR, YES"			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.1514delA	6.37:g.111983042delT	ENSP00000346671:p.Lys505fs					FYN_ENST00000368682.3_Frame_Shift_Del_p.K502fs|FYN_ENST00000368678.4_Frame_Shift_Del_p.K502fs|FYN_ENST00000229471.4_Frame_Shift_Del_p.K450fs|FYN_ENST00000368667.2_Frame_Shift_Del_p.K505fs|FYN_ENST00000229470.5_Frame_Shift_Del_p.K453fs|FYN_ENST00000538466.1_Frame_Shift_Del_p.K502fs|FYN_ENST00000356013.2_Frame_Shift_Del_p.K450fs	p.K505fs	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	14	2120	-		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)	505			Protein kinase.		B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Frame_Shift_Del	DEL	ENST00000354650.3	37	c.1514delA	CCDS5094.1																																																																																				0.562	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043655.1			9	308						9	308	---	---	---	---	-	111983042	T	-	111983042	7	5	331	1	0	1	0	1	0	0	0	0	6126	1609	56	0	103	0	FYN	6	111983042	Frame_Shift_Del	DEL	T	TCGA-EM-A3O7-01A-11D-A21Z-08	57177411	111983042	59132025	12	7038											
VNN2	8875	broad.mit.edu	37	chr6	133065566	133065566	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtaccacctcccaaagAgtgacactgttagtataggc	9	10	0	2			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr6:133065566A>G	ENST00000326499.6	-	7	1560	c.1436T>C	c.(1435-1437)cTc>cCc	p.L479P	VNN2_ENST00000525289.1_Missense_Mutation_p.L258P|VNN2_ENST00000525270.1_Missense_Mutation_p.L426P	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	479					cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		CCTCCCAAAGAGTGACACTGT	0.403																																						ENST00000326499.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1435-1437)cTc>cCc		vanin 2							144	129	134					6																	133065566		2203	4300	6503	SO:0001583	missense	8875				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	g.chr6:133065566A>G	AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"Vanins"	12706	protein-coding gene	gene with protein product	"pantetheinase"	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.1436T>C	6.37:g.133065566A>G	ENSP00000322276:p.Leu479Pro					VNN2_ENST00000525270.1_Missense_Mutation_p.L426P|VNN2_ENST00000525289.1_Missense_Mutation_p.L258P	p.L479P	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)	7	1560	-			479					A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Missense_Mutation	SNP	ENST00000326499.6	37	c.1436T>C	CCDS5161.1	.	.	.	.	.	.	.	.	.	.	A	11.66	1.704908	0.30232	.	.	ENSG00000112303	ENST00000326499;ENST00000525270;ENST00000525289	D;D;D	0.89875	-2.58;-2.58;-2.58	4.53	4.53	0.55603	.	0.000000	0.53938	D	0.000054	D	0.92113	0.7500	M	0.80508	2.5	0.27303	N	0.957511	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.87058	0.2151	10	0.87932	D	0	-7.9479	12.0751	0.53638	1.0:0.0:0.0:0.0	.	258;479	O95498-2;O95498	.;VNN2_HUMAN	P	479;426;258	ENSP00000322276:L479P;ENSP00000436822:L426P;ENSP00000436935:L258P	ENSP00000322276:L479P	L	-	2	0	VNN2	133107259	0.949000	0.32298	0.178000	0.23040	0.010000	0.07245	5.274000	0.65569	1.784000	0.52394	0.533000	0.62120	CTC		0.403	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2			50	51	0	0	0	1	0	50	51					G	133065566	A	G	133065566	3	3	331	1	0	0	0	0	1	0	0	0	17180	304	11	3	130	3	VNN2	6	133065566	Missense_Mutation	SNP	A	TCGA-EM-A3O7-01A-11D-A21Z-08	21082524	133065566	38049501	13	7039											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		54	70	0	0	0	1	0	54	70					T	140453136	A	T	140453136	3	4	331	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A3O7-01A-11D-A21Z-08		140453136	18685527	14	7040											
NOL6	65083	broad.mit.edu	37	chr9	33468782	33468782	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agacacttctcaggacctggTagccactcatggtggtatgg	12	10	2	1			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr9:33468782T>C	ENST00000379471.2	-	8	1202	c.1115A>G	c.(1114-1116)tAc>tGc	p.Y372C	NOL6_ENST00000455041.2_Missense_Mutation_p.Y312C|NOL6_ENST00000464829.1_5'UTR			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	372					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CAGGACCTGGTAGCCACTCAT	0.547																																						ENST00000379471.2																			0				endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27						c.(1114-1116)tAc>tGc		nucleolar protein 6 (RNA-associated)							180	185	183					9																	33468782		2203	4300	6503	SO:0001583	missense	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33468782T>C	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"nucleolar protein family 6 (RNA-associated)"			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.1115A>G	9.37:g.33468782T>C	ENSP00000368784:p.Tyr372Cys					NOL6_ENST00000455041.2_Missense_Mutation_p.Y312C|NOL6_ENST00000464829.1_5'UTR	p.Y372C			Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	8	1202	-			372					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	ENST00000379471.2	37	c.1115A>G		.	.	.	.	.	.	.	.	.	.	T	15.86	2.957245	0.53400	.	.	ENSG00000165271	ENST00000353159;ENST00000297990;ENST00000379471;ENST00000325914;ENST00000455041	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	5.08	5.08	0.68730	.	0.127211	0.53938	D	0.000043	T	0.71600	0.3359	M	0.73430	2.235	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	0.85130	0.997;0.994;0.992;0.991;0.997	T	0.74368	-0.3688	10	0.52906	T	0.07	.	14.5069	0.67758	0.0:0.0:0.0:1.0	.	312;372;372;372;372	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4-3;Q9H6R4	.;.;.;.;NOL6_HUMAN	C	372;372;372;372;312	ENSP00000313978:Y372C;ENSP00000297990:Y372C;ENSP00000368784:Y372C;ENSP00000395915:Y312C	ENSP00000297990:Y372C	Y	-	2	0	NOL6	33458782	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	5.560000	0.67332	1.925000	0.55765	0.459000	0.35465	TAC		0.547	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917		4	314	0	0	0	1	0	4	314					C	33468782	T	C	33468782	3	2	331	1	0	0	0	0	1	0	0	0	10525	1638	57	3	2401	3	NOL6	9	33468782	Missense_Mutation	SNP	T	TCGA-EM-A3O7-01A-11D-A21Z-08		33468782	107744649	15	7041											
TMEM132A	54972	broad.mit.edu	37	chr11	60695172	60695172	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtcccatgggacgtgcgggcCgtttcagtggaagcggctgt	17	10	1	0	rs373484312		TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr11:60695172C>G	ENST00000453848.2	+	3	533	c.375C>G	c.(373-375)gcC>gcG	p.A125A	RP11-881M11.4_ENST00000543907.1_RNA|TMEM132A_ENST00000005286.4_Silent_p.A125A			Q24JP5	T132A_HUMAN	transmembrane protein 132A	125						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						ACGTGCGGGCCGTTTCAGTGG	0.632																																						ENST00000005286.4																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						c.(373-375)gcC>gcG		transmembrane protein 132A							79	88	85					11																	60695172		2202	4299	6501	SO:0001819	synonymous_variant	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60695172C>G	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.375C>G	11.37:g.60695172C>G						TMEM132A_ENST00000453848.2_Silent_p.A125A	p.A125A	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN			3	528	+			125					Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Silent	SNP	ENST00000453848.2	37	c.375C>G	CCDS44618.1																																																																																				0.632	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		13	132	0	0	0	1	0	13	132					G	60695172	C	G	60695172	2	3	331	1	0	0	0	0	0	0	0	1	16042	639	23	4		4	TMEM132A	11	60695172	Silent	SNP	C	TCGA-EM-A3O7-01A-11D-A21Z-08		60695172	74311344	16	7042											
TAS2R20	259295	broad.mit.edu	37	chr12	11149659	11149659	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaatgaatgagtggaatgaTggatatatgattccaaaagc	11	3	0	5			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr12:11149659T>C	ENST00000538986.1	-	1	815	c.816A>G	c.(814-816)ccA>ccG	p.P272P	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	272					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						AGTGGAATGATGGATATATGA	0.393																																						ENST00000538986.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(814-816)ccA>ccG		taste receptor, type 2, member 20							113	113	113					12																	11149659		2203	4300	6503	SO:0001819	synonymous_variant	259295				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11149659T>C	AX097732, AF494236	CCDS8639.1	12p13.2	2012-08-22			ENSG00000255837	ENSG00000255837		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19109	protein-coding gene	gene with protein product		613962	"taste receptor, type 2, member 49"	TAS2R49			Standard	NM_176889		Approved	T2R20, T2R56	uc001qzm.2	P59543	OTTHUMG00000162695	ENST00000538986.1:c.816A>G	12.37:g.11149659T>C						TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.P272P	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN			1	815	-			272					P59549|Q2HIZ4|Q496D8|Q645X9	Silent	SNP	ENST00000538986.1	37	c.816A>G	CCDS8639.1																																																																																				0.393	TAS2R20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370130.2	NM_176889		7	93	0	0	0	1	0	7	93					C	11149659	T	C	11149659	2	2	331	1	0	0	0	0	0	0	0	1	15568	1451	51	3		3	TAS2R20	12	11149659	Silent	SNP	T	TCGA-EM-A3O7-01A-11D-A21Z-08		11149659	122702236	17	7043											
PDZRN4	29951	broad.mit.edu	37	chr12	41967097	41967097	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttaccacagctcctcatataGatatgcaaacatcccagcac	4	14	1	1			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr12:41967097G>T	ENST00000402685.2	+	10	2524	c.2516G>T	c.(2515-2517)aGa>aTa	p.R839I	PDZRN4_ENST00000298919.7_Missense_Mutation_p.R579I|PDZRN4_ENST00000539469.2_Missense_Mutation_p.R581I	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	839							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TCCTCATATAGATATGCAAAC	0.473																																						ENST00000298919.7																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(1735-1737)aGa>aTa		PDZ domain containing ring finger 4							142	149	146					12																	41967097		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41967097G>T	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"RING-type (C3HC4) zinc fingers"	30552	protein-coding gene	gene with protein product	"similar to semaF cytoplasmic domain associated protein 3"	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2516G>T	12.37:g.41967097G>T	ENSP00000384197:p.Arg839Ile					PDZRN4_ENST00000402685.2_Missense_Mutation_p.R839I|PDZRN4_ENST00000539469.2_Missense_Mutation_p.R581I	p.R579I			Q6ZMN7	PZRN4_HUMAN			10	2124	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	839					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.1736G>T	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.644240	0.47258	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.45276	0.9;0.9;0.9	5.07	5.07	0.68467	.	0.065397	0.56097	D	0.000027	T	0.58221	0.2107	M	0.72479	2.2	0.80722	D	1	P;P;P	0.51933	0.86;0.896;0.949	B;P;P	0.58928	0.302;0.802;0.848	T	0.59695	-0.7406	10	0.59425	D	0.04	-30.7472	12.7124	0.57098	0.0768:0.0:0.9232:0.0	.	839;579;581	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	I	839;581;579	ENSP00000384197:R839I;ENSP00000439990:R581I;ENSP00000298919:R579I	ENSP00000298919:R579I	R	+	2	0	PDZRN4	40253364	1.000000	0.71417	0.148000	0.22405	0.356000	0.29392	4.616000	0.61197	2.741000	0.93983	0.650000	0.86243	AGA		0.473	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		14	171	1	0	6.81908e-15	1	7.28936e-15	14	171					T	41967097	G	T	41967097	3	4	331	1	0	0	0	0	1	0	0	0	11710	942	33	4	2627	4	PDZRN4	12	41967097	Missense_Mutation	SNP	G	TCGA-EM-A3O7-01A-11D-A21Z-08	30817438	41967097	91884798	18	7044											
EFS	10278	broad.mit.edu	37	chr14	23828540	23828540	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcaccttcaggtggacatAgtcatactcctcggccatcg	9	14	3	0			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr14:23828540A>G	ENST00000216733.3	-	4	1754	c.1147T>C	c.(1147-1149)Tat>Cat	p.Y383H	EFS_ENST00000429593.2_Missense_Mutation_p.Y214H|RP11-124D2.3_ENST00000554010.1_RNA|EFS_ENST00000351354.3_Missense_Mutation_p.Y290H	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	383					cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		AGGTGGACATAGTCATACTCC	0.637																																						ENST00000216733.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16						c.(1147-1149)Tat>Cat		embryonal Fyn-associated substrate							93	92	92					14																	23828540		2203	4300	6503	SO:0001583	missense	0				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding	g.chr14:23828540A>G	AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"Cas scaffolding proteins"	16898	protein-coding gene	gene with protein product	"Cas scaffolding protein family member 3"	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.1147T>C	14.37:g.23828540A>G	ENSP00000216733:p.Tyr383His					EFS_ENST00000351354.3_Missense_Mutation_p.Y290H|EFS_ENST00000429593.2_Missense_Mutation_p.Y214H	p.Y383H	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN		GBM - Glioblastoma multiforme(265;0.00649)	4	1754	-	all_cancers(95;7.12e-06)		383					B2RAJ7|B4DJ56|E9PGU2|O43282	Missense_Mutation	SNP	ENST00000216733.3	37	c.1147T>C	CCDS9595.1	.	.	.	.	.	.	.	.	.	.	A	19.79	3.892330	0.72524	.	.	ENSG00000100842	ENST00000216733;ENST00000351354;ENST00000429593	T;T;T	0.37058	1.22;1.22;1.22	4.69	4.69	0.59074	CAS family, DUF3513 (1);	0.292378	0.34067	N	0.004290	T	0.63094	0.2482	M	0.84683	2.71	0.45354	D	0.998347	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.69752	-0.5060	10	0.72032	D	0.01	-9.9709	13.2715	0.60164	1.0:0.0:0.0:0.0	.	214;290;383	B4DJ56;O43281-2;O43281	.;.;EFS_HUMAN	H	383;290;214	ENSP00000216733:Y383H;ENSP00000340607:Y290H;ENSP00000416684:Y214H	ENSP00000216733:Y383H	Y	-	1	0	EFS	22898380	1.000000	0.71417	0.990000	0.47175	0.918000	0.54935	4.557000	0.60782	1.975000	0.57531	0.533000	0.62120	TAT		0.637	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2			3	184	0	0	0	1	0	3	184					G	23828540	A	G	23828540	3	3	331	1	0	0	0	0	1	0	0	0	4959	420	15	3	550	3	EFS	14	23828540	Missense_Mutation	SNP	A	TCGA-EM-A3O7-01A-11D-A21Z-08		23828540	83521000	19	7045											
MOAP1	64112	broad.mit.edu	37	chr14	93650551	93650551	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttccgagggttcatgtccaTccccctgcaccagtcttcta	7	15	3	0			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr14:93650551T>C	ENST00000556883.1	-	2	521	c.37A>G	c.(37-39)Atg>Gtg	p.M13V	TMEM251_ENST00000283534.4_5'Flank|TMEM251_ENST00000415050.2_5'Flank|MOAP1_ENST00000298894.4_Missense_Mutation_p.M13V|RP11-371E8.4_ENST00000557574.1_5'Flank			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	13					apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		ttcatgtccatccccctgcac	0.507																																						ENST00000556883.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13						c.(37-39)Atg>Gtg		modulator of apoptosis 1							106	118	114					14																	93650551		2203	4300	6503	SO:0001583	missense	64112				activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity	g.chr14:93650551T>C	BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"Paraneoplastic Ma antigens"	16658	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 4"	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184	ENST00000556883.1:c.37A>G	14.37:g.93650551T>C	ENSP00000451594:p.Met13Val					MOAP1_ENST00000298894.4_Missense_Mutation_p.M13V	p.M13V			Q96BY2	MOAP1_HUMAN		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)	2	521	-		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)	13					B2RDF6|Q9H833|Q9HAS1	Missense_Mutation	SNP	ENST00000556883.1	37	c.37A>G	CCDS9908.1	.	.	.	.	.	.	.	.	.	.	T	11.04	1.523326	0.27299	.	.	ENSG00000165943	ENST00000298894;ENST00000556883	T;T	0.14516	2.5;2.5	3.46	2.26	0.28386	.	.	.	.	.	T	0.29256	0.0728	M	0.67397	2.05	0.22226	N	0.999271	D	0.60160	0.987	D	0.66602	0.945	T	0.04693	-1.0933	9	0.66056	D	0.02	-12.5177	6.7674	0.23575	0.0:0.0:0.2411:0.7589	.	13	Q96BY2	MOAP1_HUMAN	V	13	ENSP00000298894:M13V;ENSP00000451594:M13V	ENSP00000298894:M13V	M	-	1	0	MOAP1	92720304	0.956000	0.32656	0.579000	0.28588	0.034000	0.12701	2.478000	0.45189	0.685000	0.31468	0.529000	0.55759	ATG		0.507	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412685.1			3	149	0	0	0	1	0	3	149					C	93650551	T	C	93650551	3	2	331	1	0	0	0	0	1	0	0	0	9680	1435	50	3	1022	3	MOAP1	14	93650551	Missense_Mutation	SNP	T	TCGA-EM-A3O7-01A-11D-A21Z-08	69822011	93650551	13698989	20	7046											
RCOR1	23186	broad.mit.edu	37	chr14	103148316	103148316	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaatctgtcagaagcaaagtGtaagtcttggagcactttat	9	6	3	1			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr14:103148316G>T	ENST00000570597.1	+	3	436		c.e3+1		RCOR1_ENST00000262241.6_Splice_Site			Q9UKL0	RCOR1_HUMAN	REST corepressor 1						blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)	p.?(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						GAAGCAAAGTGTAAGTCTTGG	0.378																																						ENST00000262241.6																			1	Unknown(1)	p.?(1)	upper_aerodigestive_tract(1)	NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						c.e3+1		REST corepressor 1							105	94	98					14																	103148316		2203	4300	6503	SO:0001630	splice_region_variant	23186				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding	g.chr14:103148316G>T	AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"REST corepressor"	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.436+1G>T	14.37:g.103148316G>T						RCOR1_ENST00000570597.1_Splice_Site		NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN			3	671	+								Q15044|Q6P2I9|Q86VG5	Splice_Site	SNP	ENST00000570597.1	37			.	.	.	.	.	.	.	.	.	.	G	18.89	3.718560	0.68844	.	.	ENSG00000089902	ENST00000262241	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6278	0.88097	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RCOR1	102218069	1.000000	0.71417	0.999000	0.59377	0.790000	0.44656	6.373000	0.73128	2.451000	0.82905	0.655000	0.94253	.		0.378	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015156	Intron	3	54	1	0	1	1	1	3	54					T	103148316	G	T	103148316	5	4	331	1	0	0	0	0	0	0	1	0	13182	1391	48	4	447	4	RCOR1	14	103148316	Splice_Site	SNP	G	TCGA-EM-A3O7-01A-11D-A21Z-08	9497765	103148316	4201224	21	7047											
COG8	84342	broad.mit.edu	37	chr16	69366761	69366761	+	Frame_Shift_Del	DEL	G	G	-													ggcagcctcttcagcgcgatGgaaggccaggattattttag							TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr16:69366761delG	ENST00000306875.4	-	4	1552	c.1438delC	c.(1438-1440)catfs	p.H480fs	COG8_ENST00000562081.1_Frame_Shift_Del_p.H480fs|PDF_ENST00000288022.1_5'Flank|RP11-343C2.12_ENST00000562949.1_Intron	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	480					protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						TCAGCGCGATGGAAGGCCAGG	0.502																																						ENST00000306875.4																			0				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						c.(1438-1440)atfs		component of oligomeric golgi complex 8							78	76	76					16																	69366761		2198	4300	6498	SO:0001589	frameshift_variant	84342				protein transport	Golgi membrane|Golgi transport complex		g.chr16:69366761delG	AK025968	CCDS10876.1	16q22.1	2011-05-31			ENSG00000213380	ENSG00000213380		"Components of oligomeric golgi complex"	18623	protein-coding gene	gene with protein product		606979				11980916	Standard	NM_032382		Approved	FLJ22315, DOR1	uc002ewy.2	Q96MW5	OTTHUMG00000154277	ENST00000306875.4:c.1438delC	16.37:g.69366761delG	ENSP00000305459:p.His480fs					COG8_ENST00000562081.1_Frame_Shift_Del_p.H480fs	p.H480fs	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN			4	1552	-			480					Q0VAK2|Q8WVV6|Q9H6F8	Frame_Shift_Del	DEL	ENST00000306875.4	37	c.1438delC	CCDS10876.1																																																																																				0.502	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268948.2	NM_032382		25	40						25	40	---	---	---	---	-	69366761	G	-	69366761	7	5	331	1	0	1	0	1	0	0	0	0	3664	1348	47	0	408	0	COG8	16	69366761	Frame_Shift_Del	DEL	G	TCGA-EM-A3O7-01A-11D-A21Z-08		69366761	20987992	22	7048											
MYH1	4619	broad.mit.edu	37	chr17	10406153	10406153	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagggtctgctggtgggcctCctggagagccttcttctcct	13	13	3	1			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr17:10406153C>T	ENST00000226207.5	-	24	3107	c.3013G>A	c.(3013-3015)Gag>Aag	p.E1005K	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1005					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						TGGTGGGCCTCCTGGAGAGCC	0.498																																						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.(3013-3015)Gag>Aag		myosin, heavy chain 1, skeletal muscle, adult							129	127	128					17																	10406153		2203	4297	6500	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10406153C>T		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.3013G>A	17.37:g.10406153C>T	ENSP00000226207:p.Glu1005Lys					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.E1005K	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			24	3107	-			1005					Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.3013G>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	34	5.350168	0.95830	.	.	ENSG00000109061	ENST00000226207	D	0.91792	-2.91	5.24	5.24	0.73138	.	0.000000	0.43579	U	0.000542	D	0.97167	0.9074	H	0.95539	3.685	0.58432	D	0.999994	D	0.64830	0.994	P	0.62435	0.902	D	0.98145	1.0438	10	0.87932	D	0	.	19.1915	0.93669	0.0:1.0:0.0:0.0	.	1005	P12882	MYH1_HUMAN	K	1005	ENSP00000226207:E1005K	ENSP00000226207:E1005K	E	-	1	0	MYH1	10346878	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.724000	0.84798	2.620000	0.88729	0.557000	0.71058	GAG		0.498	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		11	127	0	0	0	1	0	11	127					T	10406153	C	T	10406153	3	4	331	1	0	0	0	0	1	0	0	0	10029	864	30	2	2874	2	MYH1	17	10406153	Missense_Mutation	SNP	C	TCGA-EM-A3O7-01A-11D-A21Z-08		10406153	70789057	23	7049											
COL1A1	1277	broad.mit.edu	37	chr17	48271724	48271724	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctcaccttggcaccaggcaGaccagcttcaccgggacgac	10	17	2	1			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr17:48271724G>A	ENST00000225964.5	-	23	1718	c.1600C>T	c.(1600-1602)Ctg>Ttg	p.L534L		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	534	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	GCACCAGGCAGACCAGCTTCA	0.647			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta																															ENST00000225964.5				Dom	yes		17	17q21.31-q22	1277	T	"collagen, type I, alpha 1"	yes	Osteogenesis imperfecta	M	"PDGFB, USP6"		"dermatofibrosarcoma protuberans, aneurysmal bone cyst "	COL1A1/PDGFB(429)	0				NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(1600-1602)Ctg>Ttg		collagen, type I, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						59	67	64					17																	48271724		2203	4300	6503	SO:0001819	synonymous_variant	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48271724G>A	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"Collagens"	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.1600C>T	17.37:g.48271724G>A							p.L534L	NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN			23	1718	-			534			Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Silent	SNP	ENST00000225964.5	37	c.1600C>T	CCDS11561.1																																																																																				0.647	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			41	38	0	0	0	1	0	41	38					A	48271724	G	A	48271724	2	1	331	1	0	0	0	0	0	0	0	1	3677	933	33	2		2	COL1A1	17	48271724	Silent	SNP	G	TCGA-EM-A3O7-01A-11D-A21Z-08	37865571	48271724	32923486	24	7050											
ZNF563	147837	broad.mit.edu	37	chr19	12430333	12430333	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccacattccttacactcaTagcgtttctttccagtgtga	5	12	2	1			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr19:12430333T>C	ENST00000293725.5	-	4	711	c.506A>G	c.(505-507)tAt>tGt	p.Y169C	ZNF563_ENST00000595977.1_Missense_Mutation_p.Y169C	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	169					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(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CTTACACTCATAGCGTTTCTT	0.433																																					GBM(39;623 795 5132 29510 31476)	ENST00000293725.5																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(505-507)tAt>tGt		zinc finger protein 563							249	221	231					19																	12430333		2203	4300	6503	SO:0001583	missense	147837				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12430333T>C	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"Zinc fingers, C2H2-type", "-"	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.506A>G	19.37:g.12430333T>C	ENSP00000293725:p.Tyr169Cys					ZNF563_ENST00000595977.1_Missense_Mutation_p.Y169C	p.Y169C	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN			4	711	-			169					B2R9E7|Q8NAT7	Missense_Mutation	SNP	ENST00000293725.5	37	c.506A>G	CCDS12270.1	.	.	.	.	.	.	.	.	.	.	T	10.64	1.407605	0.25378	.	.	ENSG00000188868	ENST00000293725;ENST00000318168	T	0.69306	-0.39	0.814	-0.43	0.12299	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.76335	0.3973	M	0.80982	2.52	0.09310	N	1	B;D	0.69078	0.264;0.997	B;D	0.65010	0.126;0.931	T	0.63932	-0.6525	9	0.72032	D	0.01	.	5.2485	0.15510	0.6853:0.0:0.0:0.3146	.	169;169	Q8TA94-2;Q8TA94	.;ZN563_HUMAN	C	169	ENSP00000293725:Y169C	ENSP00000293725:Y169C	Y	-	2	0	ZNF563	12291333	0.000000	0.05858	0.004000	0.12327	0.323000	0.28346	-2.276000	0.01161	-0.251000	0.09542	-0.991000	0.02546	TAT		0.433	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		43	82	0	0	0	1	0	43	82					C	12430333	T	C	12430333	3	2	331	1	0	0	0	0	1	0	0	0	17991	1406	49	3	928	3	ZNF563	19	12430333	Missense_Mutation	SNP	T	TCGA-EM-A3O7-01A-11D-A21Z-08		12430333	46698650	25	7051											
C20orf151	140893	broad.mit.edu	37	chr20	60990654	60990666	+	Frame_Shift_Del	DEL	CAGGCAGGGTGGC	CAGGCAGGGTGGC	-													catgtctggggctcgcgactCaggcagggtggcccctgggg					rs190875685|rs373195744	byFrequency	TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr20:60990654_60990666delCAGGCAGGGTGGC	ENST00000252998.1	-	8	751_763	c.595_607delGCCACCCTGCCTG	c.(595-609)gccaccctgcctgagfs	p.ATLPE199fs		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	199						extracellular space (GO:0005615)		p.A199D(1)									GCTCGCGACTCAGGCAGGGTGGCCCCTGGGGAG	0.653																																						ENST00000252998.1																			1	Substitution - Missense(1)	p.A199D(1)	skin(1)								c.(595-609)agfs		RBBP8 N-terminal like																																				SO:0001589	frameshift_variant	140893							g.chr20:60990654_60990666delCAGGCAGGGTGGC	AL121832	CCDS13498.1	20q13.33	2012-10-30	2012-10-30	2012-10-30	ENSG00000130701	ENSG00000130701			16144	protein-coding gene	gene with protein product	"hypothetical protein LOC140893"		"chromosome 20 open reading frame 151"	C20orf151		11780052	Standard	NM_080833		Approved	dJ908M14.3	uc002ycw.2	Q8NC74	OTTHUMG00000032913	ENST00000252998.1:c.595_607delGCCACCCTGCCTG	20.37:g.60990654_60990666delCAGGCAGGGTGGC	ENSP00000252998:p.Ala199fs						p.ATLPE199fs	NM_080833.2	NP_543023.2					8	751_763	-								B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Frame_Shift_Del	DEL	ENST00000252998.1	37	c.595_607delGCCACCCTGCCTG	CCDS13498.1																																																																																				0.653	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080029.1	NM_080833		12	82						12	82	---	---	---	---	-	60990666	CAGGCAGGGTGGC	-	60990654	7	5	331	1	0	1	0	1	0	0	0	0	2091	835	29	0	1415	0	C20orf151	20	60990654	Frame_Shift_Del	DEL	CAGGCAGGGTGGC	TCGA-EM-A3O7-01A-11D-A21Z-08		60990654	2034866	26	7052											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	9	17	2	0	rs145580328		TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51	56	55					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		3	166	0	0	0	1	0	3	166					G	37028425	A	G	37028425	3	3	331	1	0	0	0	0	1	0	0	0	5571	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-EM-A3O7-01A-11D-A21Z-08		37028425	118242135	27	7053											
ZMYM1	79830	broad.mit.edu	37	chr1	35580761	35580761	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagaagcttactggcccagcCctaatggctgttgagcagga	13	10	0	2			TCGA-EM-A3O8-01A-11D-A21Z-08	TCGA-EM-A3O8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	273fa499-61f1-44ac-b537-3f6d7fbba63a	dfb338fd-ead0-4819-9fb3-5e701e5cf53d	g.chr1:35580761C>A	ENST00000373330.1	+	11	3504	c.3330C>A	c.(3328-3330)gcC>gcA	p.A1110A	ZMYM1_ENST00000359858.4_Silent_p.A1110A|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	1110						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTGGCCCAGCCCTAATGGCTG	0.383																																						ENST00000373330.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31						c.(3328-3330)gcC>gcA		zinc finger, MYM-type 1							69	63	65					1																	35580761		1834	4098	5932	SO:0001819	synonymous_variant	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35580761C>A	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"Zinc fingers, MYM type"	26253	protein-coding gene	gene with protein product			"zinc finger, MYM domain containing 1"			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.3330C>A	1.37:g.35580761C>A						ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Silent_p.A1110A	p.A1110A			Q5SVZ6	ZMYM1_HUMAN			11	3504	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	1110					D3DPR7|Q7Z3Q4	Silent	SNP	ENST00000373330.1	37	c.3330C>A	CCDS41302.1																																																																																				0.383	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		3	74	1	0	0.115264	1	0.119875	3	74					A	35580761	C	A	35580761	2	1	332	1	0	0	0	0	0	0	0	1	17696	610	22	4		4	ZMYM1	1	35580761	Silent	SNP	C	TCGA-EM-A3O8-01A-11D-A21Z-08		35580761	213669860	1	7054											
GFI1	2672	broad.mit.edu	37	chr1	92941764	92941764	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacttgtgaggcttctcaCctgtggggatgggaggggga	19	7	1	1			TCGA-EM-A3O8-01A-11D-A21Z-08	TCGA-EM-A3O8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	273fa499-61f1-44ac-b537-3f6d7fbba63a	dfb338fd-ead0-4819-9fb3-5e701e5cf53d	g.chr1:92941764C>T	ENST00000370332.1	-	7	1409	c.1091G>A	c.(1090-1092)gGt>gAt	p.G364D	GFI1_ENST00000427103.1_Splice_Site_p.G364D|GFI1_ENST00000294702.5_Splice_Site_p.G364D	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	364					auditory receptor cell differentiation (GO:0042491)|cell fate commitment (GO:0045165)|cellular response to lipopolysaccharide (GO:0071222)|inner ear morphogenesis (GO:0042472)|mechanosensory behavior (GO:0007638)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell fate specification (GO:0009996)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vitamin D biosynthetic process (GO:0010957)|positive regulation of cell fate specification (GO:0042660)|positive regulation of interleukin-6-mediated signaling pathway (GO:0070105)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|viral process (GO:0016032)	nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		AGGCTTCTCACCTGTGGGGAT	0.582																																						ENST00000370332.1																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						c.e7-1		growth factor independent 1 transcription repressor							45	41	43					1																	92941764		2203	4300	6503	SO:0001630	splice_region_variant	2672				negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr1:92941764C>T	U67369	CCDS30773.1	1p22	2014-09-17	2007-10-04		ENSG00000162676	ENSG00000162676		"Zinc fingers, C2H2-type"	4237	protein-coding gene	gene with protein product		600871	"growth factor independent 1"	ZNF163		7789186	Standard	NM_005263		Approved	GFI1A, GFI-1	uc001dov.4	Q99684	OTTHUMG00000010897	ENST00000370332.1:c.1091-1G>A	1.37:g.92941764C>T						GFI1_ENST00000294702.5_Splice_Site_p.G364_splice|GFI1_ENST00000427103.1_Splice_Site_p.G364_splice	p.G364_splice	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)	7	1409	-		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)	364					Q8N564	Splice_Site	SNP	ENST00000370332.1	37	c.1090_splice	CCDS30773.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226795	0.79576	.	.	ENSG00000162676	ENST00000370332;ENST00000427103;ENST00000294702	T;T;T	0.26660	1.72;1.72;1.72	5.33	5.33	0.75918	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.41534	0.1163	L	0.53671	1.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.34378	-0.9831	10	0.87932	D	0	.	19.0241	0.92926	0.0:1.0:0.0:0.0	.	364	Q99684	GFI1_HUMAN	D	364	ENSP00000359357:G364D;ENSP00000399719:G364D;ENSP00000294702:G364D	ENSP00000294702:G364D	G	-	2	0	GFI1	92714352	1.000000	0.71417	1.000000	0.80357	0.523000	0.34469	7.773000	0.85462	2.485000	0.83878	0.655000	0.94253	GGT		0.582	GFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030054.1	NM_005263	Missense_Mutation	4	21	0	0	0	1	0	4	21					T	92941764	C	T	92941764	5	4	332	1	0	0	0	0	0	0	1	0	6339	521	18	2	181	2	GFI1	1	92941764	Splice_Site	SNP	C	TCGA-EM-A3O8-01A-11D-A21Z-08	57361003	92941764	156308857	2	7055											
MOV10	4343	broad.mit.edu	37	chr1	113234306	113234306	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcgctaagggctatgacctgGagttaagtatggcgctgggg	17	7	0	1			TCGA-EM-A3O8-01A-11D-A21Z-08	TCGA-EM-A3O8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	273fa499-61f1-44ac-b537-3f6d7fbba63a	dfb338fd-ead0-4819-9fb3-5e701e5cf53d	g.chr1:113234306G>T	ENST00000413052.2	+	6	1246	c.856G>T	c.(856-858)Gag>Tag	p.E286*	MOV10_ENST00000369644.1_Nonsense_Mutation_p.E230*|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000369645.1_Nonsense_Mutation_p.E286*|MOV10_ENST00000357443.2_Nonsense_Mutation_p.E286*|MOV10_ENST00000468624.1_3'UTR	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	286					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CTATGACCTGGAGTTAAGTAT	0.557																																						ENST00000369644.1																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38						c.(688-690)Gag>Tag		Mov10, Moloney leukemia virus 10, homolog (mouse)							133	137	135					1																	113234306		2203	4300	6503	SO:0001587	stop_gained	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	g.chr1:113234306G>T	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 113"	610742	"Mov10 (Moloney leukemia virus 10, mouse) homolog", "Mov10, Moloney leukemia virus 10, homolog (mouse)"			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.856G>T	1.37:g.113234306G>T	ENSP00000399797:p.Glu286*					MOV10_ENST00000369645.1_Nonsense_Mutation_p.E286*|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Nonsense_Mutation_p.E286*|MOV10_ENST00000413052.2_Nonsense_Mutation_p.E286*	p.E230*			Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	7	1717	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	286					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Nonsense_Mutation	SNP	ENST00000413052.2	37	c.688G>T	CCDS853.1	.	.	.	.	.	.	.	.	.	.	G	46	12.447184	0.99668	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000285733;ENST00000369644;ENST00000357443;ENST00000369648	.	.	.	5.01	4.1	0.47936	.	0.296733	0.41001	D	0.000969	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-23.5734	9.4576	0.38764	0.096:0.0:0.904:0.0	.	.	.	.	X	286;286;286;230;286;224	.	ENSP00000285733:E286X	E	+	1	0	MOV10	113035829	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.898000	0.48672	1.495000	0.48549	0.561000	0.74099	GAG		0.557	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		66	79	1	0	7.05995e-25	1	7.64828e-25	66	79					T	113234306	G	T	113234306	4	4	332	1	0	0	0	0	0	1	0	0	9718	1175	41	4	874	4	MOV10	1	113234306	Nonsense_Mutation	SNP	G	TCGA-EM-A3O8-01A-11D-A21Z-08	20292542	113234306	136016315	3	7056											
YTHDC1	91746	broad.mit.edu	37	chr4	69202908	69202908	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcctcctcctcctcctcCtcttcctcctcctcctcttc	0	24	3	0	rs548927284	byFrequency	TCGA-EM-A3O8-01A-11D-A21Z-08	TCGA-EM-A3O8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	273fa499-61f1-44ac-b537-3f6d7fbba63a	dfb338fd-ead0-4819-9fb3-5e701e5cf53d	g.chr4:69202908C>T	ENST00000344157.4	-	4	1055	c.720G>A	c.(718-720)gaG>gaA	p.E240E	YTHDC1_ENST00000579690.1_Silent_p.E240E|YTHDC1_ENST00000355665.3_Silent_p.E240E	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	240	Glu-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						cctcctcctcctcttcctcct	0.478																																						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.(718-720)gaG>gaA		YTH domain containing 1							141	100	114					4																	69202908		2203	4300	6503	SO:0001819	synonymous_variant	91746							g.chr4:69202908C>T	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.720G>A	4.37:g.69202908C>T						YTHDC1_ENST00000579690.1_Silent_p.E240E|YTHDC1_ENST00000355665.3_Silent_p.E240E	p.E240E	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN			4	1055	-			240			Glu-rich.		Q4W5Q3|Q7Z622|Q8TF35	Silent	SNP	ENST00000344157.4	37	c.720G>A	CCDS33992.1																																																																																				0.478	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		3	35	0	0	0	1	0	3	35					T	69202908	C	T	69202908	2	4	332	1	0	0	0	0	0	0	0	1	17493	680	24	2		2	YTHDC1	4	69202908	Silent	SNP	C	TCGA-EM-A3O8-01A-11D-A21Z-08		69202908	121951368	4	7057											
CXCL5	6374	broad.mit.edu	37	chr4	74864215	74864217	+	In_Frame_Del	DEL	CAG	CAG	-													gcgatgggccctggctgcgtCagcagcagcagcagcaccaa					rs139966143	byFrequency	TCGA-EM-A3O8-01A-11D-A21Z-08	TCGA-EM-A3O8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	273fa499-61f1-44ac-b537-3f6d7fbba63a	dfb338fd-ead0-4819-9fb3-5e701e5cf53d	g.chr4:74864215_74864217delCAG	ENST00000296027.4	-	1	279_281	c.82_84delCTG	c.(82-84)ctgdel	p.L28del		NM_002994.3	NP_002985.1	P42830	CXCL5_HUMAN	chemokine (C-X-C motif) ligand 5	28					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			CTGGCTGCGTCAGCAGCAGCAGC	0.7																																						ENST00000296027.4																			0				endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(1)	9						c.(82-84)del		chemokine (C-X-C motif) ligand 5				159,4049		24,111,1969						-0.9	0.4			15	307,7843		42,223,3810	no	coding	CXCL5	NM_002994.3		66,334,5779	A1A1,A1R,RR		3.7669,3.7785,3.7708				466,11892				SO:0001651	inframe_deletion	6374				cell-cell signaling|chemotaxis|immune response|positive regulation of cell proliferation|signal transduction	extracellular space	chemokine activity	g.chr4:74864215_74864217delCAG	X78686	CCDS34006.1	4q13.3	2013-02-25	2002-08-22	2002-08-23		ENSG00000163735		"Endogenous ligands"	10642	protein-coding gene	gene with protein product		600324	"small inducible cytokine subfamily B (Cys-X-Cys), member 5 (epithelial-derived neutrophil-activating peptide 78)"	SCYB5		7929219	Standard	NM_002994		Approved	ENA-78	uc003hhk.4	P42830		ENST00000296027.4:c.82_84delCTG	4.37:g.74864224_74864226delCAG	ENSP00000296027:p.Leu28del						p.L28del	NM_002994.3	NP_002985.1	P42830	CXCL5_HUMAN	all cancers(17;0.00273)|Lung(101;0.196)		1	279_281	-	Breast(15;0.00136)		28					Q96QE1	In_Frame_Del	DEL	ENST00000296027.4	37	c.82_84delCTG	CCDS34006.1																																																																																				0.7	CXCL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362749.1	NM_002994		2	4						2	4	---	---	---	---	-	74864217	CAG	-	74864215	7	5	332	1	0	1	0	1	0	0	0	0	4087	813	29	0	276	0	CXCL5	4	74864215	In_Frame_Del	DEL	CAG	TCGA-EM-A3O8-01A-11D-A21Z-08	5661307	74864215	116290061	5	7058											
LRP2BP	55805	broad.mit.edu	37	chr4	186295505	186295505	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatttgatcgtttaacaccTtttccttcataataagctct	3	10	3	1			TCGA-EM-A3O8-01A-11D-A21Z-08	TCGA-EM-A3O8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	273fa499-61f1-44ac-b537-3f6d7fbba63a	dfb338fd-ead0-4819-9fb3-5e701e5cf53d	g.chr4:186295505T>C	ENST00000328559.7	-	4	1252	c.441A>G	c.(439-441)aaA>aaG	p.K147K	LRP2BP_ENST00000510776.1_Silent_p.K121K|LRP2BP_ENST00000505916.1_Silent_p.K147K|LRP2BP_ENST00000362004.3_Silent_p.K149K|RP11-714G18.1_ENST00000514884.1_RNA	NM_018409.3	NP_060879.2	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	147						cytoplasm (GO:0005737)				breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		GTTTAACACCTTTTCCTTCAT	0.383																																						ENST00000362004.3																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15						c.(445-447)aaA>aaG		LRP2 binding protein							173	165	168					4																	186295505		2203	4300	6503	SO:0001819	synonymous_variant	55805					cytoplasm	protein binding	g.chr4:186295505T>C	AB037746	CCDS3840.1	4q35.1	2011-05-03			ENSG00000109771	ENSG00000109771			25434	protein-coding gene	gene with protein product						10718198, 12508107	Standard	NM_018409		Approved	DKFZp761O0113	uc003ixj.2	Q9P2M1	OTTHUMG00000160460	ENST00000328559.7:c.441A>G	4.37:g.186295505T>C						LRP2BP_ENST00000328559.7_Silent_p.K147K|RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000510776.1_Silent_p.K121K|LRP2BP_ENST00000505916.1_Silent_p.K147K	p.K149K			Q9P2M1	LR2BP_HUMAN		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)	4	1258	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	147					A6NJR7|A7E219|B3KX83|Q9NSN6	Silent	SNP	ENST00000328559.7	37	c.447A>G	CCDS3840.1																																																																																				0.383	LRP2BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360679.2	NM_018409		3	132	0	0	0	1	0	3	132					C	186295505	T	C	186295505	2	2	332	1	0	0	0	0	0	0	0	1	8957	1606	56	3		3	LRP2BP	4	186295505	Silent	SNP	T	TCGA-EM-A3O8-01A-11D-A21Z-08	111431290	186295505	4858771	6	7059											
FOXP4	116113	broad.mit.edu	37	chr6	41557797	41557797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaccccccgacctcggccGcagcccctgtcacccctcta	7	23	2	0			TCGA-EM-A3O8-01A-11D-A21Z-08	TCGA-EM-A3O8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	273fa499-61f1-44ac-b537-3f6d7fbba63a	dfb338fd-ead0-4819-9fb3-5e701e5cf53d	g.chr6:41557797G>A	ENST00000307972.4	+	10	1258	c.1246G>A	c.(1246-1248)Gca>Aca	p.A416T	FOXP4_ENST00000373060.1_Missense_Mutation_p.A416T|FOXP4_ENST00000409208.1_Missense_Mutation_p.A404T|FOXP4_ENST00000373057.3_Missense_Mutation_p.A414T|FOXP4_ENST00000373063.3_Missense_Mutation_p.A403T			Q8IVH2	FOXP4_HUMAN	forkhead box P4	416					embryonic foregut morphogenesis (GO:0048617)|heart development (GO:0007507)|lung secretory cell differentiation (GO:0061140)|negative regulation of lung goblet cell differentiation (GO:1901250)	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)	p.A403T(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					GACCTCGGCCGCAGCCCCTGT	0.672																																						ENST00000373060.1																			2	Substitution - Missense(2)	p.A403T(2)	upper_aerodigestive_tract(1)|large_intestine(1)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16						c.(1246-1248)Gca>Aca		forkhead box P4							32	35	34					6																	41557797		2202	4300	6502	SO:0001583	missense	116113				embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	g.chr6:41557797G>A	AB080747	CCDS4856.1, CCDS34447.1, CCDS34448.1	6p21.1	2008-02-05			ENSG00000137166	ENSG00000137166		"Forkhead boxes"	20842	protein-coding gene	gene with protein product		608924					Standard	XM_006714991		Approved	FLJ40908	uc003oql.3	Q8IVH2	OTTHUMG00000014679	ENST00000307972.4:c.1246G>A	6.37:g.41557797G>A	ENSP00000309823:p.Ala416Thr					FOXP4_ENST00000307972.4_Missense_Mutation_p.A416T|FOXP4_ENST00000373063.3_Missense_Mutation_p.A403T|FOXP4_ENST00000409208.1_Missense_Mutation_p.A404T|FOXP4_ENST00000373057.3_Missense_Mutation_p.A414T	p.A416T	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN			11	1704	+	Ovarian(28;0.0327)|Colorectal(47;0.196)		416					Q5W098|Q7Z7F8|Q8IW55|Q96E19	Missense_Mutation	SNP	ENST00000307972.4	37	c.1246G>A	CCDS34447.1	.	.	.	.	.	.	.	.	.	.	G	2.788	-0.252010	0.05829	.	.	ENSG00000137166	ENST00000373060;ENST00000373063;ENST00000409208;ENST00000373057;ENST00000307972	D;D;D;D;D	0.90197	-2.63;-2.6;-2.6;-2.63;-2.63	4.12	4.12	0.48240	.	0.135387	0.49916	D	0.000133	T	0.70945	0.3282	N	0.01576	-0.805	0.49798	D	0.999825	D;B;B	0.67145	0.996;0.011;0.008	P;B;B	0.53401	0.725;0.005;0.003	T	0.75720	-0.3219	10	0.32370	T	0.25	.	5.7433	0.18106	0.2678:0.0:0.7322:0.0	.	403;414;416	Q8IW55;Q7Z7F8;Q8IVH2	.;.;FOXP4_HUMAN	T	416;403;404;414;416	ENSP00000362151:A416T;ENSP00000362154:A403T;ENSP00000386958:A404T;ENSP00000362148:A414T;ENSP00000309823:A416T	ENSP00000309823:A416T	A	+	1	0	FOXP4	41665775	1.000000	0.71417	0.701000	0.30321	0.692000	0.40212	4.127000	0.57944	2.033000	0.60031	0.455000	0.32223	GCA		0.672	FOXP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000106767.1	NM_138457		3	49	0	0	0	1	0	3	49					A	41557797	G	A	41557797	3	1	332	1	0	0	0	0	1	0	0	0	6029	1087	38	1	1284	1	FOXP4	6	41557797	Missense_Mutation	SNP	G	TCGA-EM-A3O8-01A-11D-A21Z-08		41557797	129557270	7	7060											
LRRC1	55227	broad.mit.edu	37	chr6	53769225	53769225	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaagttgagcaacttgaatGcagacagaaataaattagtg	10	4	0	5			TCGA-EM-A3O8-01A-11D-A21Z-08	TCGA-EM-A3O8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	273fa499-61f1-44ac-b537-3f6d7fbba63a	dfb338fd-ead0-4819-9fb3-5e701e5cf53d	g.chr6:53769225G>T	ENST00000370888.1	+	10	1232	c.955G>T	c.(955-957)Gca>Tca	p.A319S		NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	319						cytoplasm (GO:0005737)|membrane (GO:0016020)				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		CAACTTGAATGCAGACAGAAA	0.289																																						ENST00000370888.1																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(955-957)Gca>Tca		leucine rich repeat containing 1							93	89	90					6																	53769225		1821	4074	5895	SO:0001583	missense	55227					cytoplasm|membrane		g.chr6:53769225G>T	AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"leucine-rich repeat-containing 1"				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.955G>T	6.37:g.53769225G>T	ENSP00000359925:p.Ala319Ser						p.A319S	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0745)	10	1232	+	Lung NSC(77;0.0147)		319					Q5TGN3|Q9HAC0|Q9NVF1	Missense_Mutation	SNP	ENST00000370888.1	37	c.955G>T	CCDS4953.2	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278821	0.59758	.	.	ENSG00000137269	ENST00000370888	T	0.58210	0.35	5.5	5.5	0.81552	.	0.238434	0.43579	D	0.000554	T	0.35595	0.0937	L	0.55743	1.74	0.80722	D	1	B	0.31459	0.324	B	0.30943	0.122	T	0.45804	-0.9236	10	0.87932	D	0	.	11.8097	0.52175	0.0796:0.0:0.9204:0.0	.	319	Q9BTT6	LRRC1_HUMAN	S	319	ENSP00000359925:A319S	ENSP00000359925:A319S	A	+	1	0	LRRC1	53877184	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.181000	0.71988	2.552000	0.86080	0.650000	0.86243	GCA		0.289	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040970.2	NM_025168		3	82	1	0	1	1	1	3	82					T	53769225	G	T	53769225	3	4	332	1	0	0	0	0	1	0	0	0	8966	1319	46	4	993	4	LRRC1	6	53769225	Missense_Mutation	SNP	G	TCGA-EM-A3O8-01A-11D-A21Z-08	12211428	53769225	117345842	8	7061											
BRAF	673	broad.mit.edu	37	chr7	140453134	140453134	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacccactccatcgagattTcactgtagctagaccaaaat	7	12	1	2	rs397516897|rs121913364|rs121913226|rs121913377		TCGA-EM-A3O8-01A-11D-A21Z-08	TCGA-EM-A3O8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	273fa499-61f1-44ac-b537-3f6d7fbba63a	dfb338fd-ead0-4819-9fb3-5e701e5cf53d	g.chr7:140453134T>C	ENST00000288602.6	-	15	1861	c.1801A>G	c.(1801-1803)Aaa>Gaa	p.K601E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	601	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		K -> E (in CRC). {ECO:0000269|PubMed:12198537}.|K -> Q (in CFC1). {ECO:0000269|PubMed:19206169}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.K601E(40)|p.V600_K601>E(12)|p.T599_R603>I(2)|p.K601del(1)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	CATCGAGATTTCACTGTAGCT	0.368		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6		61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	58	Substitution - Missense(40)|Complex - deletion inframe(17)|Deletion - In frame(1)	p.K601E(40)|p.V600_K601>E(12)|p.T599_R603>I(2)|p.K601del(1)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)	thyroid(30)|skin(15)|large_intestine(5)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|endometrium(1)|lung(1)|NS(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1801-1803)Aaa>Gaa		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						111	103	106					7																	140453134		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453134T>C	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1801A>G	7.37:g.140453134T>C	ENSP00000288602:p.Lys601Glu						p.K601E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1861	-	Melanoma(164;0.00956)		601		K -> E (in colorectal cancer).|K -> Q (in CFC syndrome).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1801A>G	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.8|23.8	4.454487|4.454487	0.84209|0.84209	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.82711|.	-1.64|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.54464|.	0.1860|.	N|N	0.25380|0.25380	0.74|0.74	0.80722|0.80722	D|D	1|1	P|.	0.42584|.	0.784|.	P|.	0.49922|.	0.626|.	T|.	0.51108|.	-0.8747|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	601|.	P15056|.	BRAF_HUMAN|.	E|W	601|208	ENSP00000288602:K601E|.	ENSP00000288602:K601E|.	K|X	-|-	1|3	0|0	BRAF|BRAF	140099603|140099603	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.921000|7.921000	0.87530|0.87530	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	AAA|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		43	66	0	0	0	1	0	43	66					C	140453134	T	C	140453134	3	2	332	1	0	0	0	0	1	0	0	0	1496	1792	62	3	515	3	BRAF	7	140453134	Missense_Mutation	SNP	T	TCGA-EM-A3O8-01A-11D-A21Z-08		140453134	18685529	9	7062											
IDO1	3620	broad.mit.edu	37	chr8	39775722	39775722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaggtcatggagatgtccGtaaggtttggagattttctc	12	6	2	2	rs200244502		TCGA-EM-A3O8-01A-11D-A21Z-08	TCGA-EM-A3O8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	273fa499-61f1-44ac-b537-3f6d7fbba63a	dfb338fd-ead0-4819-9fb3-5e701e5cf53d	g.chr8:39775722G>A	ENST00000518237.1	+	3	938	c.299G>A	c.(298-300)cGt>cAt	p.R100H	RP11-44K6.3_ENST00000517623.1_RNA|IDO1_ENST00000522495.1_Missense_Mutation_p.R100H|RP11-44K6.4_ENST00000522970.1_RNA|RP11-44K6.2_ENST00000520185.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	100					cellular nitrogen compound metabolic process (GO:0034641)|cytokine production involved in inflammatory response (GO:0002534)|female pregnancy (GO:0007565)|kynurenic acid biosynthetic process (GO:0034276)|multicellular organismal response to stress (GO:0033555)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response (GO:0002678)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of type 2 immune response (GO:0002830)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|swimming behavior (GO:0036269)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytosol (GO:0005829)|smooth muscle contractile fiber (GO:0030485)|stereocilium bundle (GO:0032421)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)|Melatonin(DB01065)	GGAGATGTCCGTAAGGTTTGG	0.393																																						ENST00000518237.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12						c.(298-300)cGt>cAt		indoleamine 2,3-dioxygenase 1	L-Tryptophan(DB00150)	G	HIS/ARG	0,3838		0,0,1919	117	110	112		299	1.4	0.0	8		112	1,8277		0,1,4138	yes	missense	IDO1	NM_002164.5	29	0,1,6057	AA,AG,GG		0.0121,0.0,0.0083	probably-damaging	100/404	39775722	1,12115	1919	4139	6058	SO:0001583	missense	3620				female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	g.chr8:39775722G>A	M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	"indoleamine-pyrrole 2,3 dioxygenase"	IDO, INDO		2109605, 8404046	Standard	NM_002164		Approved		uc003xnm.3	P14902		ENST00000518237.1:c.299G>A	8.37:g.39775722G>A	ENSP00000430950:p.Arg100His					RP11-44K6.4_ENST00000522970.1_RNA|IDO1_ENST00000522495.1_Missense_Mutation_p.R100H|RP11-44K6.3_ENST00000517623.1_RNA	p.R100H	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN			3	938	+			100					Q540B4	Missense_Mutation	SNP	ENST00000518237.1	37	c.299G>A	CCDS47847.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420693	0.42918	0.0	1.21E-4	ENSG00000131203	ENST00000519154;ENST00000522495;ENST00000518237	T;T;T	0.45276	0.9;0.9;0.9	5.65	1.44	0.22558	.	0.907386	0.09317	N	0.818769	T	0.43255	0.1239	M	0.79475	2.455	0.09310	N	1	D	0.54047	0.964	P	0.45377	0.478	T	0.44360	-0.9333	9	.	.	.	-1.485	1.7288	0.02928	0.1757:0.2276:0.4465:0.1502	.	100	P14902	I23O1_HUMAN	H	100	ENSP00000428716:R100H;ENSP00000430505:R100H;ENSP00000430950:R100H	.	R	+	2	0	IDO1	39894879	0.000000	0.05858	0.003000	0.11579	0.237000	0.25408	0.234000	0.17930	0.751000	0.32900	0.585000	0.79938	CGT		0.393	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376987.1	NM_002164		4	111	0	0	0	1	0	4	111					A	39775722	G	A	39775722	3	1	332	1	0	0	0	0	1	0	0	0	7501	1145	40	1	309	1	IDO1	8	39775722	Missense_Mutation	SNP	G	TCGA-EM-A3O8-01A-11D-A21Z-08		39775722	106588300	10	7063											
ATAD2	29028	broad.mit.edu	37	chr8	124361593	124361593	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttcgtaaagcaggatctaTagaatctagcctgttcgtag	9	9	2	1			TCGA-EM-A3O8-01A-11D-A21Z-08	TCGA-EM-A3O8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	273fa499-61f1-44ac-b537-3f6d7fbba63a	dfb338fd-ead0-4819-9fb3-5e701e5cf53d	g.chr8:124361593T>C	ENST00000287394.5	-	14	1845	c.1738A>G	c.(1738-1740)Ata>Gta	p.I580V	ATAD2_ENST00000521903.1_5'UTR|MIR548AA1_ENST00000384971.2_RNA	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	580					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GCAGGATCTATAGAATCTAGC	0.408																																						ENST00000287394.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.(1738-1740)Ata>Gta		ATPase family, AAA domain containing 2							143	130	134					8																	124361593		2203	4300	6503	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124361593T>C	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"ATPases / AAA-type"	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.1738A>G	8.37:g.124361593T>C	ENSP00000287394:p.Ile580Val					ATAD2_ENST00000521903.1_5'UTR	p.I580V	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		14	1845	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		580					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.1738A>G	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.830327	0.91036	.	.	ENSG00000156802	ENST00000287394	D	0.94184	-3.37	5.7	5.7	0.88788	ATPase, AAA-type, conserved site (1);ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.095181	0.64402	D	0.000001	D	0.94679	0.8284	L	0.43757	1.38	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	D	0.93505	0.6848	10	0.28530	T	0.3	-23.2294	15.9666	0.79979	0.0:0.0:0.0:1.0	.	580	Q6PL18	ATAD2_HUMAN	V	580	ENSP00000287394:I580V	ENSP00000287394:I580V	I	-	1	0	ATAD2	124430774	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.040000	0.89188	2.174000	0.68829	0.482000	0.46254	ATA		0.408	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		4	156	0	0	0	1	0	4	156					C	124361593	T	C	124361593	3	2	332	1	0	0	0	0	1	0	0	0	1071	1406	49	3	2494	3	ATAD2	8	124361593	Missense_Mutation	SNP	T	TCGA-EM-A3O8-01A-11D-A21Z-08	84585871	124361593	22002429	11	7064											
ZNF169	169841	broad.mit.edu	37	chr9	97063304	97063304	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggagaagccttatctgtgCcccaagtgtgggcgtgcatt	15	9	1	1			TCGA-EM-A3O8-01A-11D-A21Z-08	TCGA-EM-A3O8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	273fa499-61f1-44ac-b537-3f6d7fbba63a	dfb338fd-ead0-4819-9fb3-5e701e5cf53d	g.chr9:97063304C>T	ENST00000395395.2	+	5	1554	c.1464C>T	c.(1462-1464)tgC>tgT	p.C488C	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	488					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(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				CTTATCTGTGCCCCAAGTGTG	0.562																																						ENST00000395395.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1462-1464)tgC>tgT		zinc finger protein 169							86	73	77					9																	97063304		2203	4300	6503	SO:0001819	synonymous_variant	169841					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:97063304C>T	U28322	CCDS6709.2	9q22.32	2014-07-30			ENSG00000175787	ENSG00000175787		"Zinc fingers, C2H2-type", "-"	12957	protein-coding gene	gene with protein product		603404				9186526, 9071574	Standard	NM_001301275		Approved	MGC51961	uc004aum.1	Q14929	OTTHUMG00000020264	ENST00000395395.2:c.1464C>T	9.37:g.97063304C>T						ZNF169_ENST00000340911.4_3'UTR	p.C488C	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN			5	1554	+		Acute lymphoblastic leukemia(62;0.136)	488					A2AGP5|A8K127|Q6PI28	Silent	SNP	ENST00000395395.2	37	c.1464C>T	CCDS6709.2																																																																																				0.562	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253714.1	NM_194320		34	45	0	0	0	1	0	34	45					T	97063304	C	T	97063304	2	4	332	1	0	0	0	0	0	0	0	1	17739	747	26	2		2	ZNF169	9	97063304	Silent	SNP	C	TCGA-EM-A3O8-01A-11D-A21Z-08		97063304	44150127	12	7065											
GBF1	8729	broad.mit.edu	37	chr10	104139192	104139192	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgccctttactgcaggGtaaaccaggaggggcagagg	16	9	0	1			TCGA-EM-A3O8-01A-11D-A21Z-08	TCGA-EM-A3O8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	273fa499-61f1-44ac-b537-3f6d7fbba63a	dfb338fd-ead0-4819-9fb3-5e701e5cf53d	g.chr10:104139192G>A	ENST00000369983.3	+	34	4902		c.e34+1			NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1						COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TTACTGCAGGGTAAACCAGGA	0.582																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.e34+1		golgi brefeldin A resistant guanine nucleotide exchange factor 1							53	50	51					10																	104139192		2203	4300	6503	SO:0001630	splice_region_variant	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104139192G>A	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.4642+1G>A	10.37:g.104139192G>A								NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	34	4902	+		Colorectal(252;0.0236)						Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Splice_Site	SNP	ENST00000369983.3	37		CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220155	0.79464	.	.	ENSG00000107862	ENST00000369983	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5757	0.91154	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GBF1	104129182	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.456000	0.97628	2.614000	0.88457	0.561000	0.74099	.		0.582	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1		Intron	3	55	0	0	0	1	0	3	55					A	104139192	G	A	104139192	5	1	332	1	0	0	0	0	0	0	1	0	6271	1275	44	2	4773	2	GBF1	10	104139192	Splice_Site	SNP	G	TCGA-EM-A3O8-01A-11D-A21Z-08		104139192	31395555	13	7066											
XRCC6	2547	broad.mit.edu	37	chr22	42052945	42052945	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taccctttgctgatgataaaAggaagatgccctttactgaa	8	8	0	4			TCGA-EM-A3O8-01A-11D-A21Z-08	TCGA-EM-A3O8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	273fa499-61f1-44ac-b537-3f6d7fbba63a	dfb338fd-ead0-4819-9fb3-5e701e5cf53d	g.chr22:42052945A>G	ENST00000359308.4	+	9	1985	c.1330A>G	c.(1330-1332)Agg>Ggg	p.R444G	XRCC6_ENST00000402580.3_Missense_Mutation_p.R403G|XRCC6_ENST00000428575.2_Missense_Mutation_p.R311G|XRCC6_ENST00000405506.1_Missense_Mutation_p.R394G|XRCC6_ENST00000405878.1_Missense_Mutation_p.R444G|XRCC6_ENST00000360079.3_Missense_Mutation_p.R444G			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	444	Ku.				brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						TGATGATAAAAGGAAGATGCC	0.418								Non-homologous end-joining																														ENST00000359308.4																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1330-1332)Agg>Ggg	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 6							81	77	79					22																	42052945		2203	4300	6503	SO:0001583	missense	2547				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding	g.chr22:42052945A>G	J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"Ku autoantigen, 70kDa"	152690	"thyroid autoantigen 70kD (Ku antigen)", "thyroid autoantigen 70kDa (Ku antigen)"	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.1330A>G	22.37:g.42052945A>G	ENSP00000352257:p.Arg444Gly					XRCC6_ENST00000405506.1_Missense_Mutation_p.R394G|XRCC6_ENST00000402580.3_Missense_Mutation_p.R403G|XRCC6_ENST00000428575.2_Missense_Mutation_p.R311G|XRCC6_ENST00000360079.3_Missense_Mutation_p.R444G|XRCC6_ENST00000405878.1_Missense_Mutation_p.R444G	p.R444G			P12956	XRCC6_HUMAN			9	1985	+			444			Ku.		B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Missense_Mutation	SNP	ENST00000359308.4	37	c.1330A>G	CCDS14021.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.950063	0.73787	.	.	ENSG00000196419	ENST00000360079;ENST00000402580;ENST00000428575;ENST00000359308;ENST00000405878;ENST00000402409;ENST00000405506	.	.	.	5.46	3.29	0.37713	Spen Paralogue and Orthologue SPOC, C-terminal-like (1);DNA helicase, ATP-dependent, Ku type (2);Ku70/Ku80 C-terminal arm (1);	0.000000	0.85682	D	0.000000	D	0.84352	0.5453	M	0.91038	3.17	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.989;0.997	D	0.88326	0.2965	9	0.87932	D	0	-11.2454	14.1857	0.65605	0.2822:0.7178:0.0:0.0	.	394;444;403;444	B1AHC9;B1AHC7;B1AHC8;P12956	.;.;.;XRCC6_HUMAN	G	444;403;311;444;444;444;394	.	ENSP00000352257:R444G	R	+	1	2	XRCC6	40382891	0.962000	0.33011	1.000000	0.80357	0.941000	0.58515	2.246000	0.43142	1.286000	0.44565	-0.213000	0.12676	AGG		0.418	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1	NM_001469		3	69	0	0	0	1	0	3	69					G	42052945	A	G	42052945	3	3	332	1	0	0	0	0	1	0	0	0	17454	63	3	3	1364	3	XRCC6	22	42052945	Missense_Mutation	SNP	A	TCGA-EM-A3O8-01A-11D-A21Z-08		42052945	9251621	14	7067											
MAGEE1	57692	broad.mit.edu	37	chrX	75648746	75648746	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccggaacacctccaggccGcccacttcctctgaggaacc	10	18	1	1			TCGA-EM-A3O8-01A-11D-A21Z-08	TCGA-EM-A3O8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	273fa499-61f1-44ac-b537-3f6d7fbba63a	dfb338fd-ead0-4819-9fb3-5e701e5cf53d	g.chrX:75648746G>A	ENST00000361470.2	+	1	701	c.423G>A	c.(421-423)ccG>ccA	p.P141P		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	141	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCTCCAGGCCGCCCACTTCCT	0.677																																						ENST00000361470.2																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						c.(421-423)ccG>ccA		melanoma antigen family E, 1							28	30	29					X																	75648746		2203	4300	6503	SO:0001819	synonymous_variant	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75648746G>A	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.423G>A	X.37:g.75648746G>A							p.P141P	NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN			1	701	+			141			Pro-rich.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Silent	SNP	ENST00000361470.2	37	c.423G>A	CCDS14433.1																																																																																				0.677	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		3	50	0	0	0	1	0	3	50					A	75648746	G	A	75648746	2	1	332	1	0	0	0	0	0	0	0	1	9185	1074	38	1		1	MAGEE1	23	75648746	Silent	SNP	G	TCGA-EM-A3O8-01A-11D-A21Z-08		75648746	79621814	15	7068											
ECE1	1889	broad.mit.edu	37	chr1	21573852	21573852	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accagttgatggcgggtgccAaggtctgcaagggaaaagga	16	7	1	1			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr1:21573852A>G	ENST00000374893.6	-	9	1099	c.1025T>C	c.(1024-1026)tTg>tCg	p.L342S	ECE1_ENST00000264205.6_Missense_Mutation_p.L339S|ECE1_ENST00000528294.1_5'UTR|ECE1_ENST00000415912.2_Missense_Mutation_p.L326S|ECE1_ENST00000436918.2_Missense_Mutation_p.L342S|ECE1_ENST00000357071.4_Missense_Mutation_p.L330S	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	342					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GGCGGGTGCCAAGGTCTGCAA	0.532																																						ENST00000415912.2																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25						c.(976-978)tTg>tCg		endothelin converting enzyme 1							131	123	126					1																	21573852		2203	4300	6503	SO:0001583	missense	1889				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity	g.chr1:21573852A>G	D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.1025T>C	1.37:g.21573852A>G	ENSP00000364028:p.Leu342Ser					ECE1_ENST00000528294.1_5'UTR|ECE1_ENST00000436918.2_Missense_Mutation_p.L342S|ECE1_ENST00000374893.6_Missense_Mutation_p.L342S|ECE1_ENST00000357071.4_Missense_Mutation_p.L330S|ECE1_ENST00000264205.6_Missense_Mutation_p.L339S	p.L326S	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)	9	1102	-		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	342					A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	ENST00000374893.6	37	c.977T>C	CCDS215.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.377796	0.82682	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205	D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68	5.48	5.48	0.80851	Peptidase M13 (1);	0.000000	0.85682	D	0.000000	D	0.89466	0.6723	M	0.62723	1.935	0.80722	D	1	P;D;P;D;D	0.89917	0.771;1.0;0.932;1.0;1.0	P;D;P;D;D	0.85130	0.574;0.997;0.777;0.992;0.995	D	0.90304	0.4332	10	0.66056	D	0.02	-16.7764	14.4117	0.67119	1.0:0.0:0.0:0.0	.	342;326;342;330;339	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	S	326;330;342;342;339	ENSP00000405088:L326S;ENSP00000349581:L330S;ENSP00000364028:L342S;ENSP00000388439:L342S;ENSP00000264205:L339S	ENSP00000264205:L339S	L	-	2	0	ECE1	21446439	1.000000	0.71417	0.999000	0.59377	0.925000	0.55904	8.890000	0.92477	2.071000	0.62044	0.454000	0.30748	TTG		0.532	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	NM_001397		3	96	0	0	0	0.184627	0	3	96					G	21573852	A	G	21573852	3	3	333	1	0	0	0	0	1	0	0	0	4889	131	5	3	1331	3	ECE1	1	21573852	Missense_Mutation	SNP	A	TCGA-EM-A3O9-01A-11D-A21Z-08		21573852	227676769	1	7069											
OR10K1	391109	broad.mit.edu	37	chr1	158436162	158436162	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctaattacacttcaagccaaGacaccctaatatctgtgtca	4	12	3	1			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr1:158436162G>A	ENST00000289451.2	+	1	891	c.811G>A	c.(811-813)Gac>Aac	p.D271N		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	271						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)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TTCAAGCCAAGACACCCTAAT	0.418																																						ENST00000289451.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27						c.(811-813)Gac>Aac		olfactory receptor, family 10, subfamily K, member 1							180	164	170					1																	158436162		2203	4300	6503	SO:0001583	missense	391109				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158436162G>A	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"GPCR / Class A : Olfactory receptors"	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.811G>A	1.37:g.158436162G>A	ENSP00000289451:p.Asp271Asn						p.D271N	NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN			1	891	+	all_hematologic(112;0.0378)		271					Q6IFS2	Missense_Mutation	SNP	ENST00000289451.2	37	c.811G>A	CCDS30897.1	.	.	.	.	.	.	.	.	.	.	g	13.75	2.331053	0.41297	.	.	ENSG00000173285	ENST00000289451	T	0.00216	8.53	4.24	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42420	D	0.000716	T	0.00210	0.0006	L	0.40543	1.245	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59311	-0.7478	10	0.56958	D	0.05	.	15.5475	0.76118	0.0:0.0:1.0:0.0	.	271	Q8NGX5	O10K1_HUMAN	N	271	ENSP00000289451:D271N	ENSP00000289451:D271N	D	+	1	0	OR10K1	156702786	0.930000	0.31532	0.135000	0.22099	0.575000	0.36095	2.434000	0.44802	2.160000	0.67779	0.557000	0.71058	GAC		0.418	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			4	137	0	0	0	0.217242	0	4	137					A	158436162	G	A	158436162	3	1	333	1	0	0	0	0	1	0	0	0	10913	942	33	2	813	2	OR10K1	1	158436162	Missense_Mutation	SNP	G	TCGA-EM-A3O9-01A-11D-A21Z-08	136862310	158436162	90814459	2	7070											
SPR	6697	broad.mit.edu	37	chr2	73115548	73115548	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgctctgcctgacttccaGcgtcctgaaggccttcccgg	10	16	1	2			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr2:73115548G>A	ENST00000234454.5	+	2	483	c.410G>A	c.(409-411)aGc>aAc	p.S137N	SPR_ENST00000498749.1_Splice_Site	NM_003124.4	NP_003115.1	P35270	SPRE_HUMAN	sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)	137					cell morphogenesis involved in neuron differentiation (GO:0048667)|death (GO:0016265)|dopamine metabolic process (GO:0042417)|L-phenylalanine metabolic process (GO:0006558)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|norepinephrine metabolic process (GO:0042415)|oxidation-reduction process (GO:0055114)|pteridine metabolic process (GO:0019889)|regulation of multicellular organism growth (GO:0040014)|regulation of nitric-oxide synthase activity (GO:0050999)|serotonin metabolic process (GO:0042428)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldo-keto reductase (NADP) activity (GO:0004033)|NADP binding (GO:0050661)|sepiapterin reductase activity (GO:0004757)			lung(4)|ovary(2)	6						CTGACTTCCAGCGTCCTGAAG	0.562											OREG0014704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000234454.5																			0				lung(4)|ovary(2)	6						c.(409-411)aGc>aAc		sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)							171	148	156					2																	73115548		2203	4300	6503	SO:0001583	missense	6697				nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process	cytoplasm	aldo-keto reductase (NADP) activity|NADP binding|sepiapterin reductase activity	g.chr2:73115548G>A		CCDS1920.1	2p14-p12	2013-06-03			ENSG00000116096	ENSG00000116096	1.1.1.153	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	11257	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 38C, member 1"	182125				1883349, 19027726	Standard	NM_003124		Approved	SDR38C1	uc002sik.2	P35270	OTTHUMG00000129777	ENST00000234454.5:c.410G>A	2.37:g.73115548G>A	ENSP00000234454:p.Ser137Asn		OREG0014704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1142	SPR_ENST00000498749.1_Splice_Site	p.S137N	NM_003124.4	NP_003115.1	P35270	SPRE_HUMAN			2	483	+			137					A8K741|D6W5H2|Q53GI9|Q9UBB1	Missense_Mutation	SNP	ENST00000234454.5	37	c.410G>A	CCDS1920.1	.	.	.	.	.	.	.	.	.	.	G	4.989	0.183680	0.09495	.	.	ENSG00000116096	ENST00000234454	D	0.87571	-2.27	5.62	3.81	0.43845	NAD(P)-binding domain (1);	0.744085	0.13560	N	0.378839	T	0.81749	0.4888	L	0.47716	1.5	0.09310	N	1	B	0.24317	0.101	B	0.26693	0.072	T	0.66304	-0.5957	10	0.22109	T	0.4	-17.0835	8.7602	0.34669	0.0767:0.2875:0.6358:0.0	.	137	P35270	SPRE_HUMAN	N	137	ENSP00000234454:S137N	ENSP00000234454:S137N	S	+	2	0	SPR	72969056	0.003000	0.15002	0.006000	0.13384	0.053000	0.15095	1.466000	0.35310	0.726000	0.32339	0.561000	0.74099	AGC		0.562	SPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251993.2			25	102	0	0	0	0.693898	0	25	102					A	73115548	G	A	73115548	3	1	333	1	0	0	0	0	1	0	0	0	15090	971	34	2	416	2	SPR	2	73115548	Missense_Mutation	SNP	G	TCGA-EM-A3O9-01A-11D-A21Z-08		73115548	170083825	3	7071											
DNAH6	1768	broad.mit.edu	37	chr2	84811124	84811124	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaactatgtttccatttagaTtgaaagccttgaagatgagg	9	5	0	5			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr2:84811124T>A	ENST00000237449.6	+	14	2239	c.2231T>A	c.(2230-2232)aTt>aAt	p.I744N	DNAH6_ENST00000389394.3_Splice_Site_p.I744N|DNAH6_ENST00000398278.2_Splice_Site_p.I744N			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	744	Stem. {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(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TCCATTTAGATTGAAAGCCTT	0.373																																						ENST00000389394.3																			0				NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						c.e15-1		dynein, axonemal, heavy chain 6							107	106	106					2																	84811124		2203	4300	6503	SO:0001630	splice_region_variant	1768				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr2:84811124T>A	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.2230-1T>A	2.37:g.84811124T>A						DNAH6_ENST00000398278.2_Splice_Site_p.I744_splice|DNAH6_ENST00000237449.6_Splice_Site_p.I744_splice	p.I744_splice	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN			15	2368	+			744			Stem (By similarity).		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Splice_Site	SNP	ENST00000237449.6	37	c.2229_splice	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	T	17.26	3.345108	0.61073	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.26518	1.73;1.84;1.73	5.73	5.73	0.89815	.	0.000000	0.44483	D	0.000456	T	0.46908	0.1417	M	0.63843	1.955	0.46654	D	0.999145	P;D	0.76494	0.459;0.999	B;D	0.65874	0.179;0.939	T	0.39542	-0.9609	10	0.49607	T	0.09	.	14.9947	0.71421	0.0:0.0:0.0:1.0	.	744;323	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	N	744	ENSP00000374045:I744N;ENSP00000381326:I744N;ENSP00000237449:I744N	ENSP00000237449:I744N	I	+	2	0	DNAH6	84664635	1.000000	0.71417	1.000000	0.80357	0.186000	0.23388	6.167000	0.71902	2.180000	0.69256	0.482000	0.46254	ATT		0.373	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370	Missense_Mutation	18	71	0	0	0	0.608945	0	18	71					A	84811124	T	A	84811124	5	1	333	1	0	0	0	0	0	0	1	0	4605	1507	52	5	2285	5	DNAH6	2	84811124	Splice_Site	SNP	T	TCGA-EM-A3O9-01A-11D-A21Z-08	11695576	84811124	158388249	4	7072											
BAP1	51533	broad.mit.edu	37	chr3	52443600	52443600	+	5'Flank	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctctgaaggtcgtagatcTcctccacttgcacccccttg	8	15	2	2			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr3:52443600T>C	ENST00000327906.3	+	0	0				PHF7_ENST00000347025.2_5'Flank|BAP1_ENST00000296288.5_Missense_Mutation_p.E31G|BAP1_ENST00000460680.1_Missense_Mutation_p.E31G	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.E31A(1)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		GTCGTAGATCTCCTCCACTTG	0.617																																						ENST00000460680.1										"N, Mis, F, S, O"						"mesothelioma, uveal melanoma"	"uveal melanoma, breast, NSCLC, RCC"		1	Substitution - Missense(1)	p.E31A(1)	kidney(1)	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(91-93)gAg>gGg		BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)							218	227	224					3																	52443600		2203	4300	6503	SO:0001631	upstream_gene_variant	8314				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52443600T>C	AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"Zinc fingers, PHD-type"	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495		3.37:g.52443600T>C	Exception_encountered					BAP1_ENST00000296288.5_Missense_Mutation_p.E31G	p.E31G	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	3	563	-			31					K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	c.92A>G	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	T	33	5.244578	0.95272	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.61274	0.12;0.12	4.97	4.97	0.65823	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3);	0.000000	0.85682	D	0.000000	T	0.82144	0.4973	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87513	0.2441	10	0.87932	D	0	-3.7767	14.6644	0.68896	0.0:0.0:0.0:1.0	.	31	Q92560	BAP1_HUMAN	G	31	ENSP00000417132:E31G;ENSP00000296288:E31G	ENSP00000296288:E31G	E	-	2	0	BAP1	52418640	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.825000	0.86693	1.875000	0.54330	0.533000	0.62120	GAG		0.617	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		9	493	0	0	0	0.335167	0	9	493					C	52443600	T	C	52443600	1	2	333	0	1	0	0	0	0	0	0	0	1311	1551	54	3		3	BAP1	3	52443600	5'Flank	SNP	T	TCGA-EM-A3O9-01A-11D-A21Z-08		52443600	145578830	5	7073											
CCDC52	152185	broad.mit.edu	37	chr3	113207801	113207801	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatacacatacctgtctgtaTtcgtgttagactgagagttt	8	7	1	2			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr3:113207801T>C	ENST00000295872.4	-	7	861	c.602A>G	c.(601-603)aAt>aGt	p.N201S		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	201					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						CCTGTCTGTATTCGTGTTAGA	0.358																																						ENST00000295872.4																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(601-603)aAt>aGt		spindle and centriole associated protein 1							134	123	127					3																	113207801		2203	4300	6503	SO:0001583	missense	152185				cell division|mitosis	centriole|spindle	protein binding	g.chr3:113207801T>C	AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"spindle and centriole protein"	613447	"coiled-coil domain containing 52"	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.602A>G	3.37:g.113207801T>C	ENSP00000295872:p.Asn201Ser						p.N201S	NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN			7	861	-			201					D3DN72|Q8WUX6	Missense_Mutation	SNP	ENST00000295872.4	37	c.602A>G	CCDS2973.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	1.185|1.185	-0.637050|-0.637050	0.03557|0.03557	.|.	.|.	ENSG00000163611|ENSG00000163611	ENST00000467618|ENST00000295872	.|T	.|0.30182	.|1.54	4.74|4.74	0.722|0.722	0.18225|0.18225	.|.	.|0.490245	.|0.22298	.|N	.|0.061918	T|T	0.15782|0.15782	0.0380|0.0380	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|B;B	.|0.19331	.|0.007;0.035	.|B;B	.|0.16289	.|0.011;0.015	T|T	0.16217|0.16217	-1.0410|-1.0410	5|10	.|0.20046	.|T	.|0.44	-7.4335|-7.4335	3.4848|3.4848	0.07615|0.07615	0.0:0.2782:0.2844:0.4374|0.0:0.2782:0.2844:0.4374	.|.	.|97;201	.|B3KX77;Q8N0Z3	.|.;SPICE_HUMAN	V|S	13|201	.|ENSP00000295872:N201S	.|ENSP00000295872:N201S	I|N	-|-	1|2	0|0	SPICE1|SPICE1	114690491|114690491	0.006000|0.006000	0.16342|0.16342	0.130000|0.130000	0.21974|0.21974	0.247000|0.247000	0.25773|0.25773	1.095000|1.095000	0.30964|0.30964	0.232000|0.232000	0.21100|0.21100	0.379000|0.379000	0.24179|0.24179	ATA|AAT		0.358	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718		3	153	0	0	0	0.115264	0	3	153					C	113207801	T	C	113207801	3	2	333	1	0	0	0	0	1	0	0	0	2822	1493	52	3	2013	3	CCDC52	3	113207801	Missense_Mutation	SNP	T	TCGA-EM-A3O9-01A-11D-A21Z-08	60764201	113207801	84814629	6	7074											
DCUN1D4	23142	broad.mit.edu	37	chr4	52777312	52777312	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attaggaaaaatctggccccTttttccagtttttcaccaat	5	10	2	0			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr4:52777312T>C	ENST00000334635.5	+	9	872	c.692T>C	c.(691-693)cTt>cCt	p.L231P	DCUN1D4_ENST00000451288.2_Missense_Mutation_p.L275P|DCUN1D4_ENST00000381437.4_Missense_Mutation_p.L171P|DCUN1D4_ENST00000381441.3_Intron	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	231	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.					nucleus (GO:0005634)				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			ATCTGGCCCCTTTTTCCAGTT	0.383																																						ENST00000334635.5																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9						c.(691-693)cTt>cCt		DCN1, defective in cullin neddylation 1, domain containing 4							121	119	119					4																	52777312		2203	4300	6503	SO:0001583	missense	23142							g.chr4:52777312T>C	D87466	CCDS3487.2, CCDS33982.1, CCDS75123.1	4q11	2013-06-10	2013-06-10		ENSG00000109184	ENSG00000109184			28998	protein-coding gene	gene with protein product		612977	"DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae)"			15988528	Standard	XM_005265731		Approved	KIAA0276	uc003gze.3	Q92564	OTTHUMG00000128700	ENST00000334635.5:c.692T>C	4.37:g.52777312T>C	ENSP00000334625:p.Leu231Pro					DCUN1D4_ENST00000381437.4_Missense_Mutation_p.L171P|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.L275P|DCUN1D4_ENST00000381441.3_Intron	p.L231P	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)		9	872	+			231			DCUN1.		B4DH25|Q7Z3F3|Q7Z6B8	Missense_Mutation	SNP	ENST00000334635.5	37	c.692T>C	CCDS33982.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.683870	0.88639	.	.	ENSG00000109184	ENST00000334635;ENST00000381437;ENST00000451288;ENST00000510808	T;T;T	0.69306	-0.39;-0.39;-0.39	5.97	5.97	0.96955	Domain of unknown function DUF298 (2);	0.000000	0.85682	D	0.000000	D	0.86339	0.5909	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.89414	0.3705	10	0.62326	D	0.03	-14.1468	15.642	0.77012	0.0:0.0:0.0:1.0	.	275;231	B4DH25;Q92564	.;DCNL4_HUMAN	P	231;171;275;41	ENSP00000334625:L231P;ENSP00000370846:L171P;ENSP00000389900:L275P	ENSP00000334625:L231P	L	+	2	0	DCUN1D4	52472069	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.288000	0.76882	0.533000	0.62120	CTT		0.383	DCUN1D4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250599.2	NM_015115		3	156	0	0	0	0.115264	0	3	156					C	52777312	T	C	52777312	3	2	333	1	0	0	0	0	1	0	0	0	4316	1609	56	3	726	3	DCUN1D4	4	52777312	Missense_Mutation	SNP	T	TCGA-EM-A3O9-01A-11D-A21Z-08		52777312	138376964	7	7075											
PRDM9	56979	broad.mit.edu	37	chr5	23524563	23524563	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaactgctggtctggtaTggggatgaatacggccagga	16	6	1	2			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr5:23524563T>A	ENST00000296682.3	+	10	1253	c.1071T>A	c.(1069-1071)taT>taA	p.Y357*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	357	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TGGTCTGGTATGGGGATGAAT	0.507										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(1069-1071)taT>taA		PR domain containing 9							118	117	117					5																	23524563		1938	4130	6068	SO:0001587	stop_gained	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23524563T>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1071T>A	5.37:g.23524563T>A	ENSP00000296682:p.Tyr357*	HNSCC(3;0.000094)					p.Y357*	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			10	1253	+			357			SET.		B4DX22|Q27Q50	Nonsense_Mutation	SNP	ENST00000296682.3	37	c.1071T>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	T	33	5.278511	0.95459	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	.	.	.	4.23	-1.19	0.09585	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.4407	7.3303	0.26577	0.0:0.4227:0.0:0.5773	.	.	.	.	X	357;151	.	ENSP00000253473:Y151X	Y	+	3	2	PRDM9	23560320	0.031000	0.19500	0.993000	0.49108	0.543000	0.35085	-1.738000	0.01842	-0.130000	0.11599	-0.381000	0.06696	TAT		0.507	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		10	128	0	0	0	0.38729	0	10	128					A	23524563	T	A	23524563	4	1	333	1	0	0	0	0	0	1	0	0	12463	1471	51	5	1105	5	PRDM9	5	23524563	Nonsense_Mutation	SNP	T	TCGA-EM-A3O9-01A-11D-A21Z-08		23524563	157390697	8	7076											
HEATR7B2	133558	broad.mit.edu	37	chr5	41065518	41065518	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagttactttgtacttcataCatcacagagttgaaatcatg	6	7	3	2			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr5:41065518C>A	ENST00000399564.4	-	4	726	c.276G>T	c.(274-276)atG>atT	p.M92I		NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	92																	GTACTTCATACATCACAGAGT	0.418																																						ENST00000399564.4																			0											c.(274-276)atG>atT		maestro heat-like repeat family member 2B							91	85	87					5																	41065518		1928	4143	6071	SO:0001583	missense	133558							g.chr5:41065518C>A		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.276G>T	5.37:g.41065518C>A	ENSP00000382476:p.Met92Ile						p.M92I	NM_173489.4	NP_775760.3					4	726	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.276G>T	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.561323	0.86335	.	.	ENSG00000171495	ENST00000399564	T	0.07567	3.18	6.16	6.16	0.99307	Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.29817	0.0745	M	0.73962	2.25	0.40635	D	0.981894	D	0.58268	0.982	D	0.68943	0.961	T	0.00248	-1.1880	10	0.87932	D	0	.	16.3599	0.83257	0.0:1.0:0.0:0.0	.	92	Q7Z745	HTRB2_HUMAN	I	92	ENSP00000382476:M92I	ENSP00000382476:M92I	M	-	3	0	HEATR7B2	41101275	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.770000	0.55310	2.937000	0.99478	0.650000	0.86243	ATG		0.418	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		3	79	1	0	0.115264	0.115264	0.121027	3	79					A	41065518	C	A	41065518	3	1	333	1	0	0	0	0	1	0	0	0	7035	478	17	4	4637	4	HEATR7B2	5	41065518	Missense_Mutation	SNP	C	TCGA-EM-A3O9-01A-11D-A21Z-08	17540955	41065518	139849742	9	7077											
ZFP57	4340	broad.mit.edu	37	chr6	29641302	29641302	+	IGR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtcagcttgggattgtgaaCaaactggtggctatagaggt	14	5	1	2			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr6:29641302C>A	ENST00000376917.3	+	0	2160				ZFP57_ENST00000488757.1_Missense_Mutation_p.V196F|ZFP57_ENST00000376883.1_Missense_Mutation_p.V176F|ZFP57_ENST00000376881.3_Missense_Mutation_p.V176F	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGATTGTGAACAAACTGGTGG	0.542																																						ENST00000376883.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						c.(526-528)Gtt>Ttt		ZFP57 zinc finger protein							94	106	102					6																	29641302		1295	2563	3858	SO:0001628	intergenic_variant	346171				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr6:29641302C>A		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29641302C>A						ZFP57_ENST00000376881.3_Missense_Mutation_p.V176F|ZFP57_ENST00000488757.1_Missense_Mutation_p.V196F	p.V176F			Q9NU63	ZFP57_HUMAN			6	937	-			112					A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	c.526G>T	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	C	9.476	1.096849	0.20552	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.52295	0.67;0.67;0.67	3.75	0.182	0.15077	.	0.628588	0.13228	N	0.403868	T	0.34774	0.0909	L	0.56769	1.78	0.09310	N	1	D;D	0.62365	0.991;0.991	P;P	0.60068	0.868;0.868	T	0.17501	-1.0367	10	0.66056	D	0.02	-3.4188	0.4818	0.00549	0.1832:0.3344:0.1943:0.288	.	196;176	Q9NU63-3;Q9NU63-2	.;.	F	196;176;176	ENSP00000418259:V196F;ENSP00000366078:V176F;ENSP00000366080:V176F	ENSP00000366078:V176F	V	-	1	0	ZFP57	29749281	0.000000	0.05858	0.034000	0.17996	0.054000	0.15201	-0.544000	0.06077	0.021000	0.15133	0.655000	0.94253	GTT		0.542	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		3	114	1	0	0.150653	0.150653	0.154328	3	114					A	29641302	C	A	29641302	1	1	333	0	1	0	0	0	0	0	0	0	17648	478	17	4		4	ZFP57	6	29641302	IGR	SNP	C	TCGA-EM-A3O9-01A-11D-A21Z-08		29641302	141473765	10	7078											
COL9A1	1297	broad.mit.edu	37	chr6	70964879	70964879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctttgggcccagggagacCaggaattcctctagcacctt	10	13	1	1			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr6:70964879C>T	ENST00000357250.6	-	23	1743	c.1585G>A	c.(1585-1587)Ggt>Agt	p.G529S	COL9A1_ENST00000370499.4_Missense_Mutation_p.G286S|COL9A1_ENST00000320755.7_Missense_Mutation_p.G286S|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	529	Triple-helical region (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCAGGGAGACCAGGAATTCCT	0.423																																						ENST00000357250.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						c.(1585-1587)Ggt>Agt		collagen, type IX, alpha 1							154	157	156					6																	70964879		2203	4300	6503	SO:0001583	missense	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70964879C>T		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.1585G>A	6.37:g.70964879C>T	ENSP00000349790:p.Gly529Ser					COL9A1_ENST00000370499.4_Missense_Mutation_p.G286S|COL9A1_ENST00000320755.7_Missense_Mutation_p.G286S|COL9A1_ENST00000489611.1_5'UTR	p.G529S	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN			23	1743	-			529			Triple-helical region (COL2).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	c.1585G>A	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403513	0.62288	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.99607	-4.59;-6.27;-4.59	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.99876	0.9941	H	0.99545	4.62	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	0.96424	0.9314	10	0.87932	D	0	.	18.0869	0.89461	0.0:1.0:0.0:0.0	.	529;286;102	P20849;P20849-2;B3KWS8	CO9A1_HUMAN;.;.	S	529;286;286	ENSP00000349790:G529S;ENSP00000315252:G286S;ENSP00000359530:G286S	ENSP00000315252:G286S	G	-	1	0	COL9A1	71021600	1.000000	0.71417	0.997000	0.53966	0.464000	0.32679	6.190000	0.72057	2.693000	0.91896	0.655000	0.94253	GGT		0.423	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			33	218	0	0	0	0.796494	0	33	218					T	70964879	C	T	70964879	3	4	333	1	0	0	0	0	1	0	0	0	3707	594	21	2	1244	2	COL9A1	6	70964879	Missense_Mutation	SNP	C	TCGA-EM-A3O9-01A-11D-A21Z-08	41323577	70964879	100150188	11	7079											
ZBTB24	9841	broad.mit.edu	37	chr6	109787521	109787521	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctctcccgaggtagagagttGatatggctgtagctgaagaa	13	7	1	4			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr6:109787521G>C	ENST00000230122.3	-	7	1794	c.1627C>G	c.(1627-1629)Caa>Gaa	p.Q543E	MICAL1_ENST00000368952.4_5'Flank	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	543					hematopoietic progenitor cell differentiation (GO:0002244)|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)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		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;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		GTAGAGAGTTGATATGGCTGT	0.448																																						ENST00000230122.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22						c.(1627-1629)Caa>Gaa		zinc finger and BTB domain containing 24							152	142	145					6																	109787521		2203	4300	6503	SO:0001583	missense	9841				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:109787521G>C	AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	21143	protein-coding gene	gene with protein product	"POZ (BTB) and AT hook containing zinc finger 2"	614064	"zinc finger protein 450"	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.1627C>G	6.37:g.109787521G>C	ENSP00000230122:p.Gln543Glu						p.Q543E	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)	7	1794	-		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)	543					Q17RC6|Q5TED5|Q8N455	Missense_Mutation	SNP	ENST00000230122.3	37	c.1627C>G	CCDS34509.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794910	0.90453	.	.	ENSG00000112365	ENST00000230122	T	0.11604	2.76	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.13030	0.0316	L	0.29908	0.895	0.53688	D	0.999971	D	0.69078	0.997	D	0.75020	0.985	T	0.11372	-1.0590	10	0.10111	T	0.7	-26.4249	20.6208	0.99490	0.0:0.0:1.0:0.0	.	543	O43167	ZBT24_HUMAN	E	543	ENSP00000230122:Q543E	ENSP00000230122:Q543E	Q	-	1	0	ZBTB24	109894214	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.281000	0.95811	2.882000	0.98803	0.655000	0.94253	CAA		0.448	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		5	177	0	0	0	0.27861	0	5	177					C	109787521	G	C	109787521	3	2	333	1	0	0	0	0	1	0	0	0	17528	1299	45	4	470	4	ZBTB24	6	109787521	Missense_Mutation	SNP	G	TCGA-EM-A3O9-01A-11D-A21Z-08	38822642	109787521	61327546	12	7080											
ZBTB24	9841	broad.mit.edu	37	chr6	109802299	109802299	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtggctcctctggtggaTtgctaaaaagtgattgtact	12	6	1	1	rs141429160		TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr6:109802299T>C	ENST00000230122.3	-	2	1098	c.931A>G	c.(931-933)Atc>Gtc	p.I311V		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	311					hematopoietic progenitor cell differentiation (GO:0002244)|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)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		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;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		CTCTGGTGGATTGCTAAAAAG	0.458																																						ENST00000230122.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22						c.(931-933)Atc>Gtc		zinc finger and BTB domain containing 24		T	VAL/ILE,VAL/ILE	0,4406		0,0,2203	125	124	124		931,931	1.7	1.0	6	dbSNP_134	124	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZBTB24	NM_001164313.1,NM_014797.2	29,29	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign	311/334,311/698	109802299	1,13005	2203	4300	6503	SO:0001583	missense	9841				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:109802299T>C	AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	21143	protein-coding gene	gene with protein product	"POZ (BTB) and AT hook containing zinc finger 2"	614064	"zinc finger protein 450"	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.931A>G	6.37:g.109802299T>C	ENSP00000230122:p.Ile311Val						p.I311V	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)	2	1098	-		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)	311					Q17RC6|Q5TED5|Q8N455	Missense_Mutation	SNP	ENST00000230122.3	37	c.931A>G	CCDS34509.1	.	.	.	.	.	.	.	.	.	.	T	14.90	2.674498	0.47781	0.0	1.16E-4	ENSG00000112365	ENST00000230122	T	0.07327	3.2	5.37	1.68	0.24146	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.206052	0.49916	N	0.000131	T	0.04092	0.0114	N	0.11845	0.185	0.31520	N	0.662519	D;D	0.69078	0.997;0.958	D;D	0.79784	0.993;0.97	T	0.39901	-0.9591	10	0.20046	T	0.44	-18.5083	9.1708	0.37081	0.0:0.2076:0.0:0.7924	.	311;311	O43167-2;O43167	.;ZBT24_HUMAN	V	311	ENSP00000230122:I311V	ENSP00000230122:I311V	I	-	1	0	ZBTB24	109908992	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	3.544000	0.53640	0.141000	0.18875	-0.441000	0.05720	ATC		0.458	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		7	268	0	0	0	0.307466	0	7	268					C	109802299	T	C	109802299	3	2	333	1	0	0	0	0	1	0	0	0	17528	1493	52	3	1236	3	ZBTB24	6	109802299	Missense_Mutation	SNP	T	TCGA-EM-A3O9-01A-11D-A21Z-08	14778	109802299	61312768	13	7081											
RMND1	55005	broad.mit.edu	37	chr6	151726916	151726916	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgccctcttctcattcaggTgattccgcattagatctgtt	8	11	4	2			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr6:151726916T>G	ENST00000367303.4	-	11	1378	c.1256A>C	c.(1255-1257)cAc>cCc	p.H419P	RMND1_ENST00000336451.3_Missense_Mutation_p.H208P	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	419					translation (GO:0006412)	mitochondrion (GO:0005739)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		CTCATTCAGGTGATTCCGCAT	0.373																																						ENST00000367303.4																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(1255-1257)cAc>cCc		required for meiotic nuclear division 1 homolog (S. cerevisiae)							129	109	116					6																	151726916		2203	4300	6503	SO:0001583	missense	55005							g.chr6:151726916T>G	AK000634	CCDS5232.1, CCDS75539.1	6q25.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000155906	ENSG00000155906			21176	protein-coding gene	gene with protein product		614917	"chromosome 6 open reading frame 96"	C6orf96			Standard	NM_001271937		Approved	bA351K16.3, FLJ20627, RMD1	uc003qoi.3	Q9NWS8	OTTHUMG00000015837	ENST00000367303.4:c.1256A>C	6.37:g.151726916T>G	ENSP00000356272:p.His419Pro					RMND1_ENST00000336451.3_Missense_Mutation_p.H208P	p.H419P	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)	11	1378	-		Ovarian(120;0.125)	419					A8K8H4|Q0VDG6|Q5SZ48|Q5SZ83|Q6NSC5|Q96EN7	Missense_Mutation	SNP	ENST00000367303.4	37	c.1256A>C	CCDS5232.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.251487	0.80135	.	.	ENSG00000155906	ENST00000336451;ENST00000367303;ENST00000367299	T;T	0.77098	-1.07;0.84	5.55	5.55	0.83447	.	0.097855	0.64402	D	0.000001	D	0.84624	0.5513	M	0.78637	2.42	0.80722	D	1	D	0.71674	0.998	D	0.71184	0.972	D	0.86784	0.1981	10	0.62326	D	0.03	-10.0954	13.9071	0.63843	0.0:0.0:0.0:1.0	.	419	Q9NWS8	RMND1_HUMAN	P	208;419;110	ENSP00000336683:H208P;ENSP00000356272:H419P	ENSP00000336683:H208P	H	-	2	0	RMND1	151768609	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.359000	0.79477	2.105000	0.64084	0.528000	0.53228	CAC		0.373	RMND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042718.2	NM_017909		10	43	0	0	0	0.361761	0	10	43					G	151726916	T	G	151726916	3	3	333	1	0	0	0	0	1	0	0	0	13396	1696	59	5	101	5	RMND1	6	151726916	Missense_Mutation	SNP	T	TCGA-EM-A3O9-01A-11D-A21Z-08	41924617	151726916	19388151	14	7082											
POM121	9883	broad.mit.edu	37	chr7	72412636	72412636	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgtcccccgcccccaagCaaagcttcctgtttggaaca	7	19	0	0			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr7:72412636C>T	ENST00000434423.2	+	11	2104	c.2104C>T	c.(2104-2106)Caa>Taa	p.Q702*	POM121_ENST00000257622.4_Nonsense_Mutation_p.Q437*|POM121_ENST00000446813.1_Nonsense_Mutation_p.Q437*|POM121_ENST00000358357.3_Nonsense_Mutation_p.Q437*|POM121_ENST00000395270.1_Nonsense_Mutation_p.Q437*			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	702	Pore side. {ECO:0000255}.				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)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CGCCCCCAAGCAAAGCTTCCT	0.597																																						ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1309-1311)Caa>Taa		POM121 transmembrane nucleoporin							18	25	23					7																	72412636		1531	3180	4711	SO:0001587	stop_gained	9883				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.chr7:72412636C>T	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"-"	19702	protein-coding gene	gene with protein product		615753	"POM121 membrane glycoprotein (rat)", "POM121 membrane glycoprotein"			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.2104C>T	7.37:g.72412636C>T	ENSP00000405562:p.Gln702*					POM121_ENST00000446813.1_Nonsense_Mutation_p.Q437*|POM121_ENST00000257622.4_Nonsense_Mutation_p.Q437*|POM121_ENST00000358357.3_Nonsense_Mutation_p.Q437*|POM121_ENST00000434423.2_Nonsense_Mutation_p.Q702*	p.Q437*	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			14	2350	+		Lung NSC(55;0.163)	702			Pore side (Potential).|Ser-rich.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Nonsense_Mutation	SNP	ENST00000434423.2	37	c.1309C>T		.	.	.	.	.	.	.	.	.	.	C	46	12.190738	0.99645	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	.	.	.	2.46	1.54	0.23209	.	1.461690	0.05252	N	0.514157	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	6.6638	0.23029	0.0:0.8538:0.0:0.1462	.	.	.	.	X	437;437;437;437;702	.	ENSP00000257622:Q437X	Q	+	1	0	POM121	72050572	0.996000	0.38824	0.046000	0.18839	0.663000	0.39108	4.337000	0.59310	0.350000	0.24002	0.173000	0.16961	CAA		0.597	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			5	113	0	0	0	0.217242	0	5	113					T	72412636	C	T	72412636	4	4	333	1	0	0	0	0	0	1	0	0	12239	711	25	2	1347	2	POM121	7	72412636	Nonsense_Mutation	SNP	C	TCGA-EM-A3O9-01A-11D-A21Z-08		72412636	86726027	15	7083											
MEPCE	56257	broad.mit.edu	37	chr7	100028454	100028454	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caccggggacagcaccaccaGcagcagcaggcagccggagg	15	15	0	0			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr7:100028454G>C	ENST00000310512.2	+	1	1201	c.813G>C	c.(811-813)caG>caC	p.Q271H	MEPCE_ENST00000414441.1_5'UTR|ZCWPW1_ENST00000324725.6_5'Flank|ZCWPW1_ENST00000398027.2_5'Flank|ZCWPW1_ENST00000360951.4_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	271					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCACCACCAGCAGCAGCAGG	0.647																																						ENST00000310512.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(811-813)caG>caC		methylphosphate capping enzyme							99	109	105					7																	100028454		2203	4300	6503	SO:0001583	missense	56257						methyltransferase activity	g.chr7:100028454G>C	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"bin3, bicoid-interacting 3, homolog (Drosophila)"	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.813G>C	7.37:g.100028454G>C	ENSP00000308546:p.Gln271His					MEPCE_ENST00000414441.1_5'UTR	p.Q271H	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN			1	1201	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		271					B3KP86|D6W5V7|Q9NPD4	Missense_Mutation	SNP	ENST00000310512.2	37	c.813G>C	CCDS5693.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.840902	0.51057	.	.	ENSG00000146834	ENST00000310512	.	.	.	4.62	2.81	0.32909	.	0.175162	0.36703	N	0.002459	T	0.22820	0.0551	N	0.22421	0.69	0.30375	N	0.782541	B	0.21225	0.053	B	0.14023	0.01	T	0.11470	-1.0586	9	0.24483	T	0.36	-0.6486	4.5225	0.11966	0.2002:0.1847:0.6151:0.0	.	271	Q7L2J0	MEPCE_HUMAN	H	271	.	ENSP00000308546:Q271H	Q	+	3	2	MEPCE	99866390	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.904000	0.48719	0.565000	0.29255	0.462000	0.41574	CAG		0.647	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			5	289	0	0	0	0.217242	0	5	289					C	100028454	G	C	100028454	3	2	333	1	0	0	0	0	1	0	0	0	9477	962	34	4	815	4	MEPCE	7	100028454	Missense_Mutation	SNP	G	TCGA-EM-A3O9-01A-11D-A21Z-08	27615818	100028454	59110209	16	7084											
SFMBT2	57713	broad.mit.edu	37	chr10	7412244	7412244	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacaagctgctttacatacgTgtttgaatgatgtgtgggga	12	6	0	2			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr10:7412244T>C	ENST00000361972.4	-	3	284	c.194A>G	c.(193-195)cAc>cGc	p.H65R	SFMBT2_ENST00000397160.3_Splice_Site_p.H65R|SFMBT2_ENST00000379711.2_Splice_Site_p.H65R|SFMBT2_ENST00000397167.1_Splice_Site_p.H65R|SFMBT2_ENST00000379713.3_Splice_Site_p.H65R	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	65					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TTTACATACGTGTTTGAATGA	0.473																																						ENST00000361972.4																			0				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						c.e3+1		Scm-like with four mbt domains 2							118	108	111					10																	7412244		2203	4300	6503	SO:0001630	splice_region_variant	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7412244T>C	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"Sterile alpha motif (SAM) domain containing"	20256	protein-coding gene	gene with protein product		615392	"Scm-related gene containing four mbt domains 2"			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.195+1A>G	10.37:g.7412244T>C						SFMBT2_ENST00000397160.3_Splice_Site_p.H65_splice|SFMBT2_ENST00000397167.1_Splice_Site_p.H65_splice|SFMBT2_ENST00000379713.3_Splice_Site_p.H65_splice|SFMBT2_ENST00000379711.2_Splice_Site_p.H65_splice	p.H65_splice	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN			3	284	-			65					A7MD09|Q9HCF5	Splice_Site	SNP	ENST00000361972.4	37	c.195_splice	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	T	17.45	3.392812	0.62066	.	.	ENSG00000198879	ENST00000361972;ENST00000397167;ENST00000379713;ENST00000379711;ENST00000397160	T;T;T;T;T	0.42131	0.98;0.98;0.98;1.39;1.39	5.24	5.24	0.73138	.	0.096586	0.64402	D	0.000001	T	0.66848	0.2831	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.91635	0.999;0.989	T	0.72411	-0.4302	10	0.87932	D	0	.	15.4442	0.75216	0.0:0.0:0.0:1.0	.	65;65	Q5T981;Q5VUG0	.;SMBT2_HUMAN	R	65	ENSP00000355109:H65R;ENSP00000380353:H65R;ENSP00000369035:H65R;ENSP00000369033:H65R;ENSP00000380346:H65R	ENSP00000355109:H65R	H	-	2	0	SFMBT2	7452250	1.000000	0.71417	0.984000	0.44739	0.299000	0.27559	7.266000	0.78452	2.102000	0.63906	0.533000	0.62120	CAC		0.473	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880	Missense_Mutation	3	108	0	0	0	0.150653	0	3	108					C	7412244	T	C	7412244	5	2	333	1	0	0	0	0	0	0	1	0	14158	1710	59	3	2566	3	SFMBT2	10	7412244	Splice_Site	SNP	T	TCGA-EM-A3O9-01A-11D-A21Z-08		7412244	128122503	17	7085											
OR51M1	390059	broad.mit.edu	37	chr11	5410737	5410737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggattggaaggcatcaaaCactggattttcatccccttt	8	10	2	0			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr11:5410737C>T	ENST00000328611.3	+	1	131	c.109C>T	c.(109-111)Cac>Tac	p.H37Y	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	37					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)			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGCATCAAACACTGGATTTT	0.423																																						ENST00000328611.3																			0				NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30						c.(109-111)Cac>Tac		olfactory receptor, family 51, subfamily M, member 1							184	171	175					11																	5410737		1904	4118	6022	SO:0001583	missense	390059					integral to membrane	olfactory receptor activity	g.chr11:5410737C>T	BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"GPCR / Class A : Olfactory receptors"	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.109C>T	11.37:g.5410737C>T	ENSP00000333196:p.His37Tyr					AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	p.H37Y	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	131	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	37					Q6IF80	Missense_Mutation	SNP	ENST00000328611.3	37	c.109C>T	CCDS53596.1	.	.	.	.	.	.	.	.	.	.	C	2.478	-0.320315	0.05386	.	.	ENSG00000184698	ENST00000328611	T	0.02944	4.1	4.74	3.8	0.43715	.	0.000000	0.35970	U	0.002870	T	0.01870	0.0059	N	0.25144	0.715	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.49153	-0.8969	10	0.02654	T	1	.	9.0783	0.36536	0.0:0.8964:0.0:0.1036	.	26	Q9H341	O51M1_HUMAN	Y	37	ENSP00000333196:H37Y	ENSP00000333196:H37Y	H	+	1	0	OR51M1	5367313	0.000000	0.05858	0.701000	0.30321	0.897000	0.52465	-0.673000	0.05239	2.442000	0.82660	0.557000	0.71058	CAC		0.423	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756		10	144	0	0	0	0.335167	0	10	144					T	5410737	C	T	5410737	3	4	333	1	0	0	0	0	1	0	0	0	11103	478	17	2	111	2	OR51M1	11	5410737	Missense_Mutation	SNP	C	TCGA-EM-A3O9-01A-11D-A21Z-08		5410737	129595779	18	7086											
POLD3	10714	broad.mit.edu	37	chr11	74336608	74336609	+	Frame_Shift_Ins	INS	-	-	A													tgttaaggtgctgcagaaggINSaaaaaaaaaggtaggaaaat					rs375954131		TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr11:74336608_74336609insA	ENST00000263681.2	+	8	1018_1019	c.889_890insA	c.(889-891)gaafs	p.E297fs	POLD3_ENST00000532497.1_Frame_Shift_Ins_p.E191fs|POLD3_ENST00000527458.1_Frame_Shift_Ins_p.E258fs	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	297					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					GCTGCAGAAGGAAAAAAAAAGG	0.46																																						ENST00000263681.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18						c.(889-891)aaafs		polymerase (DNA-directed), delta 3, accessory subunit																																				SO:0001589	frameshift_variant	10714				base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding	g.chr11:74336608_74336609insA	D26018	CCDS8233.1	11q14	2014-06-13			ENSG00000077514	ENSG00000077514		"DNA polymerases"	20932	protein-coding gene	gene with protein product	"DNA polymerase delta subunit p66", "Pol delta C subunit (p66)", "protein phosphatase 1, regulatory subunit 128"	611415				10219083	Standard	NM_006591		Approved	P66, KIAA0039, P68, PPP1R128	uc001ovf.2	Q15054	OTTHUMG00000165621	ENST00000263681.2:c.898dupA	11.37:g.74336617_74336617dupA	ENSP00000263681:p.Glu297fs					POLD3_ENST00000532497.1_Frame_Shift_Ins_p.K191fs|POLD3_ENST00000527458.1_Frame_Shift_Ins_p.K258fs	p.K297fs	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN			8	1018_1019	+	Breast(11;3.21e-06)		297					B7ZAI6|Q32MZ9|Q32N00	Frame_Shift_Ins	INS	ENST00000263681.2	37	c.889_890insA	CCDS8233.1																																																																																				0.46	POLD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385376.1	NM_006591		7	57						7	57	---	---	---	---	A	74336609	-	A	74336608	7	5	333	1	0	1	1	0	0	0	0	0	12192	1175	41	0	919	0	POLD3	11	74336608	Frame_Shift_Ins	INS	-	TCGA-EM-A3O9-01A-11D-A21Z-08	68925871	74336608	60669908	19	7087											
GRIA4	2893	broad.mit.edu	37	chr11	105795388	105795388	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacacagaagagccagaggaCggaaaggaaggacccagcga	14	10	0	3	rs542853979	byFrequency	TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr11:105795388C>T	ENST00000530497.1	+	11	1740	c.1740C>T	c.(1738-1740)gaC>gaT	p.D580D	GRIA4_ENST00000525187.1_Silent_p.D580D|GRIA4_ENST00000282499.5_Silent_p.D580D|GRIA4_ENST00000393127.2_Silent_p.D580D			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	580					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		AGCCAGAGGACGGAAAGGAAG	0.473													c|||	2	0.000399361	0	0	5008	,	,		17185	0		0.001	False		,,,				2504	0.001					ENST00000393127.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(1738-1740)gaC>gaT		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						142	118	126					11																	105795388		2202	4299	6501	SO:0001819	synonymous_variant	0				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105795388C>T	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4574	protein-coding gene	gene with protein product		138246	"glutamate receptor, ionotrophic, AMPA 4"	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1740C>T	11.37:g.105795388C>T						GRIA4_ENST00000530497.1_Silent_p.D580D|GRIA4_ENST00000525187.1_Silent_p.D580D|GRIA4_ENST00000282499.5_Silent_p.D580D	p.D580D	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	12	2186	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	580					Q86XE8	Silent	SNP	ENST00000530497.1	37	c.1740C>T	CCDS8333.1																																																																																				0.473	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			9	53	0	0	0	0.335167	0	9	53					T	105795388	C	T	105795388	2	4	333	1	0	0	0	0	0	0	0	1	6770	535	19	1		1	GRIA4	11	105795388	Silent	SNP	C	TCGA-EM-A3O9-01A-11D-A21Z-08	31458780	105795388	29211128	20	7088											
HSP90B1	7184	broad.mit.edu	37	chr12	104336889	104336889	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttgagcgacttctgaaaaAgggctatgaagttatttacc	10	6	1	3			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr12:104336889A>G	ENST00000299767.5	+	13	1864	c.1682A>G	c.(1681-1683)aAg>aGg	p.K561R		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	561					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	CTTCTGAAAAAGGGCTATGAA	0.418																																						ENST00000299767.5																			0				central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29						c.(1681-1683)aAg>aGg		heat shock protein 90kDa beta (Grp94), member 1	Rifabutin(DB00615)						112	121	118					12																	104336889		2203	4300	6503	SO:0001583	missense	7184				actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding	g.chr12:104336889A>G	AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"Heat shock proteins / HSPC"	12028	protein-coding gene	gene with protein product		191175	"tumor rejection antigen (gp96) 1"	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.1682A>G	12.37:g.104336889A>G	ENSP00000299767:p.Lys561Arg						p.K561R	NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN			13	1864	+			561					Q96A97	Missense_Mutation	SNP	ENST00000299767.5	37	c.1682A>G	CCDS9094.1	.	.	.	.	.	.	.	.	.	.	A	17.47	3.397139	0.62177	.	.	ENSG00000166598	ENST00000299767;ENST00000421266	T	0.11169	2.8	5.85	5.85	0.93711	Ribosomal protein S5 domain 2-type fold (1);	0.000000	0.85682	D	0.000000	T	0.09686	0.0238	L	0.35723	1.085	0.80722	D	1	B	0.26081	0.141	B	0.25614	0.062	T	0.07578	-1.0765	10	0.06625	T	0.88	.	16.5427	0.84406	1.0:0.0:0.0:0.0	.	561	P14625	ENPL_HUMAN	R	561;311	ENSP00000299767:K561R	ENSP00000299767:K561R	K	+	2	0	HSP90B1	102861019	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.567000	0.82357	2.363000	0.80096	0.523000	0.50628	AAG		0.418	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299		4	223	0	0	0	0.184627	0	4	223					G	104336889	A	G	104336889	3	3	333	1	0	0	0	0	1	0	0	0	7403	72	3	3	1732	3	HSP90B1	12	104336889	Missense_Mutation	SNP	A	TCGA-EM-A3O9-01A-11D-A21Z-08		104336889	29515006	21	7089											
BTBD7	55727	broad.mit.edu	37	chr14	93717850	93717850	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaggagggcttgactggTtgctgctgatctgctggtgg	17	7	1	3			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr14:93717850T>C	ENST00000334746.5	-	8	2208	c.1901A>G	c.(1900-1902)aAc>aGc	p.N634S	BTBD7_ENST00000554565.1_Missense_Mutation_p.N283S|BTBD7_ENST00000393170.2_Missense_Mutation_p.N208S	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	634					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GCTTGACTGGTTGCTGCTGAT	0.418																																						ENST00000334746.5																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(1900-1902)aAc>aGc		BTB (POZ) domain containing 7							219	179	192					14																	93717850		2203	4300	6503	SO:0001583	missense	55727							g.chr14:93717850T>C	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"BTB/POZ domain containing"	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.1901A>G	14.37:g.93717850T>C	ENSP00000335615:p.Asn634Ser					BTBD7_ENST00000554565.1_Missense_Mutation_p.N283S|BTBD7_ENST00000393170.2_Missense_Mutation_p.N208S	p.N634S	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	8	2208	-		all_cancers(154;0.08)	634					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	ENST00000334746.5	37	c.1901A>G	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	T	14.84	2.656170	0.47467	.	.	ENSG00000011114	ENST00000334746;ENST00000554565;ENST00000553975;ENST00000393170	T;T	0.43688	1.28;0.94	5.6	2.0	0.26442	.	0.251004	0.52532	N	0.000071	T	0.16769	0.0403	N	0.02802	-0.49	0.34290	D	0.683127	B;B;B	0.14438	0.002;0.01;0.001	B;B;B	0.14578	0.004;0.011;0.002	T	0.16188	-1.0411	10	0.19590	T	0.45	.	8.8744	0.35337	0.0:0.3665:0.0:0.6335	.	208;283;634	E7ERI4;Q9P203-5;Q9P203	.;.;BTBD7_HUMAN	S	634;283;249;208	ENSP00000335615:N634S;ENSP00000451010:N283S	ENSP00000335615:N634S	N	-	2	0	BTBD7	92787603	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	0.674000	0.25218	0.105000	0.17753	0.482000	0.46254	AAC		0.418	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		40	239	0	0	0	0.859065	0	40	239					C	93717850	T	C	93717850	3	2	333	1	0	0	0	0	1	0	0	0	1546	1725	60	3	1513	3	BTBD7	14	93717850	Missense_Mutation	SNP	T	TCGA-EM-A3O9-01A-11D-A21Z-08		93717850	13631690	22	7090											
SRRM2	23524	broad.mit.edu	37	chr16	2807800	2807800	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggtcacggagactcaccaGttggcagaattaaatgagaa	12	7	2	3			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr16:2807800G>T	ENST00000301740.8	+	4	918	c.369G>T	c.(367-369)caG>caT	p.Q123H		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	123					mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGACTCACCAgttggcagaat	0.443																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(367-369)caG>caT		serine/arginine repetitive matrix 2							98	106	103					16																	2807800		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2807800G>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.369G>T	16.37:g.2807800G>T	ENSP00000301740:p.Gln123His						p.Q123H	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			4	918	+			123					A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.369G>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.283638	0.40394	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000396975;ENST00000426305	T	0.25749	1.78	4.96	4.96	0.65561	.	0.000000	0.49305	D	0.000152	T	0.41627	0.1167	L	0.50333	1.59	0.36345	D	0.859719	D	0.65815	0.995	D	0.74674	0.984	T	0.51140	-0.8743	10	0.87932	D	0	-9.0437	9.3547	0.38159	0.0983:0.0:0.9017:0.0	.	123	Q9UQ35	SRRM2_HUMAN	H	123;123;27;88	ENSP00000301740:Q123H	ENSP00000301740:Q123H	Q	+	3	2	SRRM2	2747801	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.863000	0.56016	2.284000	0.76573	0.462000	0.41574	CAG		0.443	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			42	97	1	0	1.76056e-25	0.859065	2.05398e-25	42	97					T	2807800	G	T	2807800	3	4	333	1	0	0	0	0	1	0	0	0	15168	1020	36	4	379	4	SRRM2	16	2807800	Missense_Mutation	SNP	G	TCGA-EM-A3O9-01A-11D-A21Z-08		2807800	87546953	23	7091											
ZNF267	10308	broad.mit.edu	37	chr16	31925925	31925925	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttaagaaaaaggtggaaaAgggaggagtgtgaagggcac	16	2	0	2			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr16:31925925A>G	ENST00000300870.10	+	4	564	c.355A>G	c.(355-357)Agg>Ggg	p.R119G	ZNF267_ENST00000394846.3_3'UTR	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	119					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AAGGTGGAAAAGGGAGGAGTG	0.378																																						ENST00000300870.10																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						c.(355-357)Agg>Ggg		zinc finger protein 267							116	115	115					16																	31925925		2197	4300	6497	SO:0001583	missense	10308				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31925925A>G	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"Zinc fingers, C2H2-type", "-"	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.355A>G	16.37:g.31925925A>G	ENSP00000300870:p.Arg119Gly					ZNF267_ENST00000394846.3_3'UTR|RP11-170L3.8_ENST00000575471.1_RNA	p.R119G	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN			4	564	+			119					A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	37	c.355A>G	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	4.844	0.156881	0.09236	.	.	ENSG00000185947	ENST00000300870;ENST00000394846	T	0.06068	3.35	0.593	0.593	0.17478	.	.	.	.	.	T	0.02848	0.0085	N	0.08118	0	0.09310	N	0.999997	B	0.06786	0.001	B	0.04013	0.001	T	0.48043	-0.9069	9	0.18710	T	0.47	.	5.3909	0.16244	0.9999:0.0:1.0E-4:0.0	.	119	Q14586	ZN267_HUMAN	G	119;86	ENSP00000300870:R119G	ENSP00000300870:R119G	R	+	1	2	ZNF267	31833426	0.988000	0.35896	0.008000	0.14137	0.242000	0.25591	0.728000	0.26013	0.466000	0.27193	0.254000	0.18369	AGG		0.378	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414		3	142	0	0	0	0.115264	0	3	142					G	31925925	A	G	31925925	3	3	333	1	0	0	0	0	1	0	0	0	17803	63	3	3	369	3	ZNF267	16	31925925	Missense_Mutation	SNP	A	TCGA-EM-A3O9-01A-11D-A21Z-08	29118125	31925925	58428828	24	7092											
CDK12	51755	broad.mit.edu	37	chr17	37682293	37682293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatccatcagtgccctgacgGaagctacttcccagcagcag	9	14	1	1			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr17:37682293G>A	ENST00000447079.4	+	13	3517	c.3484G>A	c.(3484-3486)Gaa>Aaa	p.E1162K	CDK12_ENST00000430627.2_Missense_Mutation_p.E1162K	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1162					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TGCCCTGACGGAAGCTACTTC	0.567			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"Mis, N, F"	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(3484-3486)Gaa>Aaa		cyclin-dependent kinase 12							77	68	71					17																	37682293		2203	4300	6503	SO:0001583	missense	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37682293G>A	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.3484G>A	17.37:g.37682293G>A	ENSP00000398880:p.Glu1162Lys	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Missense_Mutation_p.E1162K	p.E1162K	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			13	3517	+			1162					A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	c.3484G>A	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739316	0.69304	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.69926	-0.44;-0.43	5.28	5.28	0.74379	.	0.153579	0.31167	N	0.008127	T	0.57770	0.2076	L	0.43152	1.355	0.38191	D	0.939902	B;B;P	0.36990	0.441;0.441;0.577	B;B;B	0.31686	0.037;0.063;0.134	T	0.59490	-0.7445	10	0.21540	T	0.41	-6.846	18.8847	0.92372	0.0:0.0:1.0:0.0	.	1161;1162;1162	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	K	1162	ENSP00000407720:E1162K;ENSP00000398880:E1162K	ENSP00000407720:E1162K	E	+	1	0	CDK12	34935819	1.000000	0.71417	0.925000	0.36789	0.988000	0.76386	8.656000	0.91102	2.636000	0.89361	0.650000	0.86243	GAA		0.567	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		12	38	0	0	0	0.38729	0	12	38					A	37682293	G	A	37682293	3	1	333	1	0	0	0	0	1	0	0	0	3128	1175	41	2	3534	2	CDK12	17	37682293	Missense_Mutation	SNP	G	TCGA-EM-A3O9-01A-11D-A21Z-08		37682293	43512917	25	7093											
OR10H2	26538	broad.mit.edu	37	chr19	15839268	15839268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaacgtgctcatgagcccaCggggctgcgcctgcctggtg	14	14	1	1			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr19:15839268C>T	ENST00000305899.3	+	1	435	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R139W(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CATGAGCCCACGGGGCTGCGC	0.637																																						ENST00000305899.3																			1	Substitution - Missense(1)	p.R139W(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27						c.(415-417)Cgg>Tgg		olfactory receptor, family 10, subfamily H, member 2							90	73	79					19																	15839268		2203	4300	6503	SO:0001583	missense	26538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15839268C>T	AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"GPCR / Class A : Olfactory receptors"	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.415C>T	19.37:g.15839268C>T	ENSP00000306095:p.Arg139Trp						p.R139W	NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN			1	435	+	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)		139					Q6IFQ1|Q96R58	Missense_Mutation	SNP	ENST00000305899.3	37	c.415C>T	CCDS12333.1	.	.	.	.	.	.	.	.	.	.	.	13.86	2.363639	0.41902	.	.	ENSG00000171942	ENST00000305899	T	0.42900	0.96	3.4	1.15	0.20763	GPCR, rhodopsin-like superfamily (1);	0.152141	0.30969	N	0.008513	T	0.43389	0.1245	L	0.54908	1.71	0.09310	N	1	D	0.63046	0.992	P	0.56088	0.791	T	0.32851	-0.9891	10	0.59425	D	0.04	.	2.1438	0.03782	0.1997:0.487:0.195:0.1183	.	139	O60403	O10H2_HUMAN	W	139	ENSP00000306095:R139W	ENSP00000306095:R139W	R	+	1	2	OR10H2	15700268	0.000000	0.05858	0.010000	0.14722	0.691000	0.40173	-0.896000	0.04114	0.009000	0.14813	-0.336000	0.08194	CGG		0.637	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			4	89	0	0	0	0.184627	0	4	89					T	15839268	C	T	15839268	3	4	333	1	0	0	0	0	1	0	0	0	10906	527	19	1	417	1	OR10H2	19	15839268	Missense_Mutation	SNP	C	TCGA-EM-A3O9-01A-11D-A21Z-08		15839268	43289715	26	7094											
LSR	51599	broad.mit.edu	37	chr19	35753538	35753540	+	In_Frame_Del	DEL	TGC	TGC	-													gccagtgctgcccgcacactTgctgctgctacgtcaggtgc							TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr19:35753538_35753540delTGC	ENST00000361790.3	+	5	1024_1026	c.865_867delTGC	c.(865-867)tgcdel	p.C291del	AD000684.2_ENST00000602262.1_RNA|LSR_ENST00000354900.3_In_Frame_Del_p.C272del|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000602122.1_In_Frame_Del_p.C272del|LSR_ENST00000347609.4_In_Frame_Del_p.C254del|LSR_ENST00000360798.3_Intron|LSR_ENST00000427250.1_Intron	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	291	Cys-rich.				embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCCGCACACTTGCTGCTGCTACG	0.621																																						ENST00000602122.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13						c.(808-810)del		lipolysis stimulated lipoprotein receptor																																				SO:0001651	inframe_deletion	51599				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity	g.chr19:35753538_35753540delTGC	AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29572	protein-coding gene	gene with protein product	"lipolysis-stimulated remnant", "immunoglobulin-like domain containing receptor 3"					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.865_867delTGC	19.37:g.35753544_35753546delTGC	ENSP00000354575:p.Cys291del					LSR_ENST00000427250.1_Intron|LSR_ENST00000361790.3_In_Frame_Del_p.C291del|LSR_ENST00000360798.3_Intron|LSR_ENST00000354900.3_In_Frame_Del_p.C272del|LSR_ENST00000347609.4_In_Frame_Del_p.C254del|LSR_ENST00000597933.1_3'UTR	p.C272del			Q86X29	LSR_HUMAN	Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		4	1295_1297	+	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		291					A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	In_Frame_Del	DEL	ENST00000361790.3	37	c.808_810delTGC	CCDS12450.1																																																																																				0.621	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2	NM_015925		8	143						8	143	---	---	---	---	-	35753540	TGC	-	35753538	7	5	333	1	0	1	0	1	0	0	0	0	9064	1812	63	0	883	0	LSR	19	35753538	In_Frame_Del	DEL	TGC	TCGA-EM-A3O9-01A-11D-A21Z-08	19914270	35753538	23375445	27	7095											
MYBPC2	4606	broad.mit.edu	37	chr19	50940753	50940753	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgtcaggatgcctctgggCagagtctagaaagcttcaag	12	11	4	2			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr19:50940753C>T	ENST00000357701.5	+	6	538	c.487C>T	c.(487-489)Cag>Tag	p.Q163*		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	163					cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TGCCTCTGGGCAGAGTCTAGA	0.587																																						ENST00000357701.5																			0				breast(1)	1						c.(487-489)Cag>Tag		myosin binding protein C, fast type							63	58	60					19																	50940753		1915	4120	6035	SO:0001587	stop_gained	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50940753C>T		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7550	protein-coding gene	gene with protein product	"fast-type muscle myosin-binding-protein C"	160793	"myosin-binding protein C, fast-type"			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.487C>T	19.37:g.50940753C>T	ENSP00000350332:p.Gln163*						p.Q163*	NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	6	538	+		all_neural(266;0.057)	163					A1L4G9	Nonsense_Mutation	SNP	ENST00000357701.5	37	c.487C>T	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	.	22.6	4.309916	0.81247	.	.	ENSG00000086967	ENST00000357701	.	.	.	3.53	-0.696	0.11287	.	0.236106	0.19280	U	0.118193	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	5.8845	0.18874	0.2084:0.3825:0.4091:0.0	.	.	.	.	X	163	.	ENSP00000350332:Q163X	Q	+	1	0	MYBPC2	55632565	0.000000	0.05858	0.001000	0.08648	0.863000	0.49368	0.160000	0.16462	0.203000	0.20529	0.401000	0.26515	CAG		0.587	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		5	11	0	0	0	0.248553	0	5	11					T	50940753	C	T	50940753	4	4	333	1	0	0	0	0	0	1	0	0	10012	711	25	2	509	2	MYBPC2	19	50940753	Nonsense_Mutation	SNP	C	TCGA-EM-A3O9-01A-11D-A21Z-08	15187215	50940753	8188230	28	7096											
RALGAPA2	57186	broad.mit.edu	37	chr20	20621386	20621386	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gattgatgagtgtctccagtGtgcaagggcccctggatgac	14	9	1	3			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr20:20621386G>T	ENST00000202677.7	-	6	516	c.509C>A	c.(508-510)aCa>aAa	p.T170K		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	170					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TGTCTCCAGTGTGCAAGGGCC	0.468																																						ENST00000202677.6																			0				endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						c.(508-510)aCa>aAa		Ral GTPase activating protein, alpha subunit 2 (catalytic)							100	100	100					20																	20621386		1929	4137	6066	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20621386G>T	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 74"	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.509C>A	20.37:g.20621386G>T	ENSP00000202677:p.Thr170Lys						p.T170K	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN			6	651	-			170					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.509C>A	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.7|27.7	4.852875|4.852875	0.91355|0.91355	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000432524|ENST00000202677;ENST00000424981;ENST00000424490;ENST00000438161	.|T;T;T	.|0.77877	.|-1.13;-1.13;-1.13	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.000000	.|0.85682	.|U	.|0.000000	D|D	0.85691|0.85691	0.5755|0.5755	M|M	0.80982|0.80982	2.52|2.52	0.53688|0.53688	D|D	0.999979|0.999979	.|D	.|0.54772	.|0.968	.|P	.|0.53360	.|0.724	D|D	0.85133|0.85133	0.0976|0.0976	5|10	.|0.39692	.|T	.|0.17	.|.	19.6603|19.6603	0.95864|0.95864	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|170	.|Q2PPJ7	.|RGPA2_HUMAN	Q|K	21|170;22;22;170	.|ENSP00000202677:T170K;ENSP00000400901:T22K;ENSP00000412795:T170K	.|ENSP00000202677:T170K	H|T	-|-	3|2	2|0	RALGAPA2|RALGAPA2	20569386|20569386	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.623000|0.623000	0.37688|0.37688	9.249000|9.249000	0.95470|0.95470	2.662000|2.662000	0.90505|0.90505	0.591000|0.591000	0.81541|0.81541	CAC|ACA		0.468	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		3	116	1	0	0.115264	0.115264	0.121027	3	116					T	20621386	G	T	20621386	3	4	333	1	0	0	0	0	1	0	0	0	13014	1377	48	4	5248	4	RALGAPA2	20	20621386	Missense_Mutation	SNP	G	TCGA-EM-A3O9-01A-11D-A21Z-08		20621386	42404134	29	7097											
MAGEB18	286514	broad.mit.edu	37	chrX	26157885	26157885	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagtaccagcaagtgcccaaCagtgatcctccacgctatga	9	13	0	2			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chrX:26157885C>A	ENST00000325250.1	+	2	970	c.783C>A	c.(781-783)aaC>aaA	p.N261K		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	261	Interaction with LNX1.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AAGTGCCCAACAGTGATCCTC	0.488																																						ENST00000325250.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						c.(781-783)aaC>aaA		melanoma antigen family B, 18							87	73	78					X																	26157885		2202	4300	6502	SO:0001583	missense	286514						protein binding	g.chrX:26157885C>A	AK057361	CCDS14216.1	Xp21.3	2008-02-05			ENSG00000176774	ENSG00000176774			28515	protein-coding gene	gene with protein product							Standard	NM_173699		Approved	MGC33889	uc004dbq.2	Q96M61	OTTHUMG00000021282	ENST00000325250.1:c.783C>A	X.37:g.26157885C>A	ENSP00000314543:p.Asn261Lys						p.N261K	NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN			2	970	+			261			MAGE.			Missense_Mutation	SNP	ENST00000325250.1	37	c.783C>A	CCDS14216.1	.	.	.	.	.	.	.	.	.	.	C	8.817	0.936625	0.18206	.	.	ENSG00000176774	ENST00000325250	T	0.04551	3.6	4.56	0.614	0.17603	.	0.202866	0.50627	D	0.000106	T	0.16385	0.0394	M	0.86028	2.79	0.09310	N	1	D	0.60575	0.988	D	0.62955	0.909	T	0.03025	-1.1081	10	0.66056	D	0.02	.	6.6478	0.22945	0.0:0.5349:0.0:0.4651	.	261	Q96M61	MAGBI_HUMAN	K	261	ENSP00000314543:N261K	ENSP00000314543:N261K	N	+	3	2	MAGEB18	26067806	0.178000	0.23122	0.021000	0.16686	0.064000	0.16182	-0.064000	0.11636	-0.020000	0.14032	-0.380000	0.06706	AAC		0.488	MAGEB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056120.1	NM_173699		3	44	1	0	0.00909568	0.150653	0.0103248	3	44					A	26157885	C	A	26157885	3	1	333	1	0	0	0	0	1	0	0	0	9175	477	17	4	785	4	MAGEB18	23	26157885	Missense_Mutation	SNP	C	TCGA-EM-A3O9-01A-11D-A21Z-08		26157885	129112675	30	7098											
NRAS	4893	broad.mit.edu	37	chr1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catggcactgtactcttcttGtccagctgtatccagtatgt	8	11	2	0	rs121913254		TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		610	Substitution - Missense(609)|Complex(1)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)	skin(372)|haematopoietic_and_lymphoid_tissue(73)|thyroid(55)|NS(29)|large_intestine(28)|soft_tissue(16)|lung(12)|autonomic_ganglia(6)|liver(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|cervix(2)|endometrium(2)|pancreas(2)|meninges(1)|kidney(1)|biliary_tract(1)|stomach(1)|ovary(1)|bone(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)Caa>Aaa		neuroblastoma RAS viral (v-ras) oncogene homolog							180	156	164					1																	115256530		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256530G>T	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.181C>A	1.37:g.115256530G>T	ENSP00000358548:p.Gln61Lys	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61K	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	434	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.181C>A	CCDS877.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255564	0.95336	.	.	ENSG00000213281	ENST00000369535	D	0.83506	-1.73	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.91845	0.7419	H	0.95850	3.73	0.80722	D	1	P	0.51791	0.948	P	0.54759	0.76	D	0.93711	0.7024	10	0.62326	D	0.03	.	18.6626	0.91477	0.0:0.0:1.0:0.0	.	61	P01111	RASN_HUMAN	K	61	ENSP00000358548:Q61K	ENSP00000358548:Q61K	Q	-	1	0	NRAS	115058053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.520000	0.98027	2.624000	0.88883	0.655000	0.94253	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		99	116	1	0	2.65435e-51	1	3.10753e-51	99	116					T	115256530	G	T	115256530	3	4	334	1	0	0	0	0	1	0	0	0	10640	1386	48	4	400	4	NRAS	1	115256530	Missense_Mutation	SNP	G	TCGA-EM-A3OA-01A-11D-A21Z-08		115256530	133994091	1	7099											
IGSF3	3321	broad.mit.edu	37	chr1	117122291	117122291	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcgtcgtcgtcgtcgtcgtcCtcctcctcctcctcctccct	6	21	0	0	rs569343519	byFrequency	TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr1:117122291C>G	ENST00000369486.3	-	10	3822	c.3057G>C	c.(3055-3057)gaG>gaC	p.E1019D	IGSF3_ENST00000369483.1_Missense_Mutation_p.E1039D|IGSF3_ENST00000318837.6_Missense_Mutation_p.E1039D	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	1019	Ig-like C2-type 8.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		cgtcgtcgtcctcctcctcct	0.637													C|||	12	0.00239617	0.0023	0	5008	,	,		18566	0.003		0	False		,,,				2504	0.0061					ENST00000369486.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62						c.(3055-3057)gaG>gaC		immunoglobulin superfamily, member 3							28	29	29					1																	117122291		2203	4300	6503	SO:0001583	missense	3321					integral to membrane		g.chr1:117122291C>G	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.3057G>C	1.37:g.117122291C>G	ENSP00000358498:p.Glu1019Asp					IGSF3_ENST00000369483.1_Missense_Mutation_p.E1039D|IGSF3_ENST00000318837.6_Missense_Mutation_p.E1039D	p.E1019D	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	10	3822	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	1019			Ig-like C2-type 8.		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	c.3057G>C	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	C	0.860	-0.735766	0.03111	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.02863	4.15;4.13;4.13	2.7	-5.4	0.02656	Immunoglobulin subtype (1);Immunoglobulin-like (1);	1.696000	0.03619	N	0.236120	T	0.00384	0.0012	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.48768	-0.9006	10	0.15952	T	0.53	-1.3732	1.6073	0.02687	0.152:0.1895:0.1511:0.5074	.	1019;1039	O75054;A6NJZ6	IGSF3_HUMAN;.	D	1019;1039;1039	ENSP00000358498:E1019D;ENSP00000358495:E1039D;ENSP00000321184:E1039D	ENSP00000321184:E1039D	E	-	3	2	IGSF3	116923814	0.018000	0.18449	0.000000	0.03702	0.117000	0.20001	-1.573000	0.02134	-1.538000	0.01734	0.462000	0.41574	GAG		0.637	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		3	18	0	0	0	1	0	3	18					G	117122291	C	G	117122291	3	3	334	1	0	0	0	0	1	0	0	0	7601	680	24	4	535	4	IGSF3	1	117122291	Missense_Mutation	SNP	C	TCGA-EM-A3OA-01A-11D-A21Z-08	1865761	117122291	132128330	2	7100											
S100A7	6278	broad.mit.edu	37	chr1	153430375	153430375	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggacagaaactcagaaaaAtcaatcttcttatcctcatt	4	9	5	2			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr1:153430375A>C	ENST00000368723.3	-	3	323	c.213T>G	c.(211-213)gaT>gaG	p.D71E	S100A7_ENST00000368722.1_Missense_Mutation_p.D71E	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	71	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				angiogenesis (GO:0001525)|defense response to Gram-negative bacterium (GO:0050829)|epidermis development (GO:0008544)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of granulocyte chemotaxis (GO:0071624)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of T cell chemotaxis (GO:0010820)|response to lipopolysaccharide (GO:0032496)|response to reactive oxygen species (GO:0000302)|sequestering of metal ion (GO:0051238)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|RAGE receptor binding (GO:0050786)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACTCAGAAAAATCAATCTTCT	0.473																																						ENST00000368723.3																			0				breast(1)|large_intestine(2)|lung(5)|skin(2)	10						c.(211-213)gaT>gaG		S100 calcium binding protein A7							106	95	99					1																	153430375		2203	4300	6503	SO:0001583	missense	6278				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding	g.chr1:153430375A>C	BC034687	CCDS1039.1	1q21	2013-01-10	2006-09-11		ENSG00000143556	ENSG00000143556		"S100 calcium binding proteins", "EF-hand domain containing"	10497	protein-coding gene	gene with protein product		600353	"S100 calcium-binding protein A7 (psoriasin 1)", "S100 calcium binding protein A7 (psoriasin 1)"	PSOR1		1940442	Standard	NM_002963		Approved	S100A7c	uc001fbv.1	P31151	OTTHUMG00000013123	ENST00000368723.3:c.213T>G	1.37:g.153430375A>C	ENSP00000357712:p.Asp71Glu					S100A7_ENST00000368722.1_Missense_Mutation_p.D71E	p.D71E	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	323	-	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		71			EF-hand 2.		Q5SY67|Q6FGE3|Q9H1E2	Missense_Mutation	SNP	ENST00000368723.3	37	c.213T>G	CCDS1039.1	.	.	.	.	.	.	.	.	.	.	.	4.721	0.134140	0.09032	.	.	ENSG00000143556	ENST00000368723;ENST00000368722	T;T	0.09817	2.94;2.94	2.03	-4.07	0.03975	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	.	.	.	.	T	0.01627	0.0052	N	0.21282	0.65	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44375	-0.9332	9	0.27082	T	0.32	.	7.6646	0.28423	0.1667:0.2217:0.6116:0.0	.	71	P31151	S10A7_HUMAN	E	71	ENSP00000357712:D71E;ENSP00000357711:D71E	ENSP00000357711:D71E	D	-	3	2	S100A7	151696999	0.000000	0.05858	0.047000	0.18901	0.267000	0.26476	-3.394000	0.00486	-1.549000	0.01710	0.163000	0.16589	GAT		0.473	S100A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036789.1	NM_002963		4	118	0	0	0	1	0	4	118					C	153430375	A	C	153430375	3	2	334	1	0	0	0	0	1	0	0	0	13783	98	4	5	96	5	S100A7	1	153430375	Missense_Mutation	SNP	A	TCGA-EM-A3OA-01A-11D-A21Z-08	36308084	153430375	95820246	3	7101											
C2orf39	92749	broad.mit.edu	37	chr2	26654829	26654829	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcagaggatctgggattgCgaagaatacaacatgatcaa	12	6	2	3	rs371207623		TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr2:26654829C>T	ENST00000288710.2	+	7	917	c.843C>T	c.(841-843)tgC>tgT	p.C281C	DRC1_ENST00000483675.1_3'UTR	NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	281					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											TCTGGGATTGCGAAGAATACA	0.512																																						ENST00000288710.2																			0											c.(841-843)tgC>tgT		dynein regulatory complex subunit 1 homolog (Chlamydomonas)		C		0,4406		0,0,2203	132	115	121		843	-11.3	0.0	2		121	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CCDC164	NM_145038.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		281/741	26654829	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	92749							g.chr2:26654829C>T	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"chromosome 2 open reading frame 39", "coiled-coil domain containing 164", "dynein regulatory complex subunit 1 homolog (Chlamydomonas)"	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.843C>T	2.37:g.26654829C>T						DRC1_ENST00000483675.1_3'UTR	p.C281C	NM_145038.2	NP_659475.2					7	917	+								A8K1N8|Q53R91|Q53TA3|Q8NDI5	Silent	SNP	ENST00000288710.2	37	c.843C>T	CCDS1723.1																																																																																				0.512	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038		6	51	0	0	0	1	0	6	51					T	26654829	C	T	26654829	2	4	334	1	0	0	0	0	0	0	0	1	2164	776	27	1		1	C2orf39	2	26654829	Silent	SNP	C	TCGA-EM-A3OA-01A-11D-A21Z-08		26654829	216544544	4	7102											
DNAH1	25981	broad.mit.edu	37	chr3	52391973	52391973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgcagacaaaggaccccaCggccgtgcagccacacctgc	11	17	0	1	rs534895761		TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr3:52391973C>T	ENST00000420323.2	+	24	4301	c.4040C>T	c.(4039-4041)aCg>aTg	p.T1347M		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1347	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AAGGACCCCACGGCCGTGCAG	0.622																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(4039-4041)aCg>aTg		dynein, axonemal, heavy chain 1							33	38	36					3																	52391973		1988	4155	6143	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52391973C>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.4040C>T	3.37:g.52391973C>T	ENSP00000401514:p.Thr1347Met						p.T1347M	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	24	4301	+			1347			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.4040C>T	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.623261	0.28889	.	.	ENSG00000114841	ENST00000420323	T	0.62105	0.05	4.98	3.2	0.36748	.	0.122511	0.36628	N	0.002499	T	0.74989	0.3789	M	0.82630	2.6	0.42239	D	0.991928	D	0.62365	0.991	P	0.61070	0.883	T	0.74705	-0.3575	10	0.45353	T	0.12	.	10.1136	0.42576	0.1366:0.792:0.0:0.0714	.	1347	C9JXH6	.	M	1347	ENSP00000401514:T1347M	ENSP00000401514:T1347M	T	+	2	0	DNAH1	52367013	0.293000	0.24371	0.945000	0.38365	0.021000	0.10359	0.949000	0.29109	0.540000	0.28808	-1.331000	0.01271	ACG		0.622	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		3	54	0	0	0	1	0	3	54					T	52391973	C	T	52391973	3	4	334	1	0	0	0	0	1	0	0	0	4597	536	19	1	4130	1	DNAH1	3	52391973	Missense_Mutation	SNP	C	TCGA-EM-A3OA-01A-11D-A21Z-08		52391973	145630457	5	7103											
PDZRN3	23024	broad.mit.edu	37	chr3	73453315	73453315	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttactcctctggcaagagatAgggatccagcacgggtgggc	14	10	1	1			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr3:73453315A>G	ENST00000263666.4	-	4	1264	c.1150T>C	c.(1150-1152)Tat>Cat	p.Y384H	PDZRN3_ENST00000535920.1_Missense_Mutation_p.Y106H|PDZRN3_ENST00000479530.1_Missense_Mutation_p.Y101H|PDZRN3_ENST00000462146.2_Missense_Mutation_p.Y41H|PDZRN3_ENST00000466780.1_Missense_Mutation_p.Y41H|PDZRN3_ENST00000466348.1_5'Flank	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	384					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GGCAAGAGATAGGGATCCAGC	0.458																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1150-1152)Tat>Cat		PDZ domain containing ring finger 3							118	105	109					3																	73453315		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73453315A>G	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"RING-type (C3HC4) zinc fingers"	17704	protein-coding gene	gene with protein product	"likely ortholog of mouse semaF cytoplasmic domain associated protein 3"	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1150T>C	3.37:g.73453315A>G	ENSP00000263666:p.Tyr384His					PDZRN3_ENST00000535920.1_Missense_Mutation_p.Y106H|PDZRN3_ENST00000462146.2_Missense_Mutation_p.Y41H|PDZRN3_ENST00000479530.1_Missense_Mutation_p.Y101H|PDZRN3_ENST00000466780.1_Missense_Mutation_p.Y41H	p.Y384H	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	4	1264	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	384					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.1150T>C	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.843157	0.51057	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000416926;ENST00000492909	T;T;T;T;T;T	0.11169	2.8;3.5;3.38;3.38;3.49;3.47	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.32315	0.0825	M	0.72894	2.215	0.53688	D	0.999979	B;D;D;D	0.89917	0.165;1.0;0.988;0.999	B;D;P;D	0.83275	0.121;0.996;0.862;0.996	T	0.01725	-1.1287	10	0.27082	T	0.32	.	16.2903	0.82747	1.0:0.0:0.0:0.0	.	106;101;101;384	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	H	384;106;41;41;101;384;82	ENSP00000263666:Y384H;ENSP00000442026:Y106H;ENSP00000418168:Y41H;ENSP00000418484:Y41H;ENSP00000418624:Y101H;ENSP00000419250:Y82H	ENSP00000263666:Y384H	Y	-	1	0	PDZRN3	73536005	1.000000	0.71417	0.973000	0.42090	0.699000	0.40488	5.199000	0.65152	2.326000	0.78906	0.533000	0.62120	TAT		0.458	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		3	96	0	0	0	1	0	3	96					G	73453315	A	G	73453315	3	3	334	1	0	0	0	0	1	0	0	0	11709	420	15	3	2078	3	PDZRN3	3	73453315	Missense_Mutation	SNP	A	TCGA-EM-A3OA-01A-11D-A21Z-08	21061342	73453315	124569115	6	7104											
ANK2	287	broad.mit.edu	37	chr4	114264269	114264269	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattcagtttttttgccttcAaagaaaatagacttcctcta	4	8	3	2			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr4:114264269A>G	ENST00000357077.4	+	34	4272	c.4219A>G	c.(4219-4221)Aaa>Gaa	p.K1407E	ANK2_ENST00000264366.6_Missense_Mutation_p.K1374E|ANK2_ENST00000394537.3_Missense_Mutation_p.K1407E|ANK2_ENST00000510275.2_Missense_Mutation_p.K59E|ANK2_ENST00000509550.1_Missense_Mutation_p.K583E|ANK2_ENST00000506722.1_Missense_Mutation_p.K1398E	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1407	UPA domain.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTTTGCCTTCAAAGAAAATAG	0.338																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(4219-4221)Aaa>Gaa		ankyrin 2, neuronal							136	133	134					4																	114264269		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114264269A>G	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.4219A>G	4.37:g.114264269A>G	ENSP00000349588:p.Lys1407Glu					ANK2_ENST00000394537.3_Missense_Mutation_p.K1407E|ANK2_ENST00000510275.2_Missense_Mutation_p.K59E|ANK2_ENST00000506722.1_Missense_Mutation_p.K1398E|ANK2_ENST00000264366.6_Missense_Mutation_p.K1374E|ANK2_ENST00000509550.1_Missense_Mutation_p.K583E	p.K1407E	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	34	4272	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1374					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.4219A>G	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	28.2|28.2	4.898025|4.898025	0.91962|0.91962	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275|ENST00000514960	T;T;T;T;T;T;T;T|.	0.26810|.	1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.000000|.	0.64402|.	D|.	0.000019|.	T|T	0.71533|0.71533	0.3351|0.3351	M|M	0.63428|0.63428	1.95|1.95	0.49389|0.49389	D|D	0.999782|0.999782	D;D;P;D;D;D;D|.	0.89917|.	0.997;0.998;0.725;0.999;0.993;1.0;0.997|.	D;D;P;D;D;D;D|.	0.91635|.	0.914;0.993;0.544;0.993;0.987;0.999;0.978|.	T|T	0.70781|0.70781	-0.4779|-0.4779	10|5	0.87932|.	D|.	0|.	.|.	15.6089|15.6089	0.76699|0.76699	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	583;1374;453;419;1407;1407;1398|.	E9PCH6;Q01484;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5|.	.;ANK2_HUMAN;.;.;.;.;.|.	E|R	1320;1398;453;1422;1407;1407;1374;1398;583;59|419	ENSP00000421011:K1320E;ENSP00000421067:K1398E;ENSP00000424722:K1422E;ENSP00000378044:K1407E;ENSP00000349588:K1407E;ENSP00000264366:K1374E;ENSP00000426944:K583E;ENSP00000421023:K59E|.	ENSP00000264366:K1374E|.	K|Q	+|+	1|2	0|0	ANK2|ANK2	114483718|114483718	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.306000|7.306000	0.78905|0.78905	2.082000|2.082000	0.62665|0.62665	0.528000|0.528000	0.53228|0.53228	AAA|CAA		0.338	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		30	46	0	0	0	1	0	30	46					G	114264269	A	G	114264269	3	3	334	1	0	0	0	0	1	0	0	0	621	131	5	3	4418	3	ANK2	4	114264269	Missense_Mutation	SNP	A	TCGA-EM-A3OA-01A-11D-A21Z-08		114264269	76890007	7	7105											
TBC1D9	23158	broad.mit.edu	37	chr4	141677078	141677080	+	In_Frame_Del	DEL	CCG	CCG	-													cacggtccttacccgccagtCcgccgccgccgcctccatcg							TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr4:141677078_141677080delCCG	ENST00000442267.2	-	1	194_196	c.120_122delCGG	c.(118-123)ggcgga>gga	p.40_41GG>G	RP11-102N12.3_ENST00000609937.1_lincRNA	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	40							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				ACCCGCCAGTCCGCCGCCGCCGC	0.739																																						ENST00000442267.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(118-123)gga>gg		TBC1 domain family, member 9 (with GRAM domain)																																				SO:0001651	inframe_deletion	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141677078_141677080delCCG	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"EF-hand domain containing"	21710	protein-coding gene	gene with protein product			"TBC1 domain family, member 9"			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.120_122delCGG	4.37:g.141677087_141677089delCCG	ENSP00000411197:p.Gly41del						p.GG40del	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN			1	194_196	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	40					A6H8U8|D3DNZ1|O94958	In_Frame_Del	DEL	ENST00000442267.2	37	c.120_122delCGG	CCDS47136.1																																																																																				0.739	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		2	4						2	4	---	---	---	---	-	141677080	CCG	-	141677078	7	5	334	1	0	1	0	1	0	0	0	0	15624	855	30	0	3762	0	TBC1D9	4	141677078	In_Frame_Del	DEL	CCG	TCGA-EM-A3OA-01A-11D-A21Z-08	27412809	141677078	49477198	8	7106											
LRRTM2	26045	broad.mit.edu	37	chr5	138209408	138209408	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttgttatccatgaggagtAttttaagattgggcatcgtt	11	4	0	2	rs371505658		TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr5:138209408A>G	ENST00000274711.6	-	2	1220	c.842T>C	c.(841-843)aTa>aCa	p.I281T	LRRTM2_ENST00000521094.2_Intron|CTNNA1_ENST00000540387.1_5'Flank|LRRTM2_ENST00000523537.1_5'Flank|LRRTM2_ENST00000518785.1_3'UTR|CTNNA1_ENST00000355078.5_Intron|CTNNA1_ENST00000302763.7_Intron|CTNNA1_ENST00000520400.1_Intron|CTNNA1_ENST00000518825.1_Intron	NM_015564.2	NP_056379.1	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	281					long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|synapse organization (GO:0050808)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CATGAGGAGTATTTTAAGATT	0.438																																						ENST00000274711.6																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16						c.(841-843)aTa>aCa		leucine rich repeat transmembrane neuronal 2		A	,THR/ILE	0,3840		0,0,1920	205	203	204		,842	5.3	1.0	5		204	1,8269		0,1,4134	no	intron,missense	CTNNA1,LRRTM2	NM_001903.2,NM_015564.2	,89	0,1,6054	GG,GA,AA		0.0121,0.0,0.0083	,benign	,281/517	138209408	1,12109	1920	4135	6055	SO:0001583	missense	26045					cell junction|integral to membrane|postsynaptic membrane		g.chr5:138209408A>G	AB007876	CCDS47272.1	5q31	2008-02-05				ENSG00000146006			19409	protein-coding gene	gene with protein product		610868				12676565	Standard	NM_015564		Approved	KIAA0416	uc011cyz.1	O43300		ENST00000274711.6:c.842T>C	5.37:g.138209408A>G	ENSP00000274711:p.Ile281Thr					CTNNA1_ENST00000355078.5_Intron|CTNNA1_ENST00000520400.1_Intron|CTNNA1_ENST00000302763.7_Intron|LRRTM2_ENST00000518785.1_3'UTR|LRRTM2_ENST00000521094.2_Intron|CTNNA1_ENST00000518825.1_Intron	p.I281T	NM_015564.2	NP_056379.1	O43300	LRRT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		2	1220	-			281					A0AVL3|A8K4U9|B7ZLN8|Q7L770	Missense_Mutation	SNP	ENST00000274711.6	37	c.842T>C	CCDS47272.1	.	.	.	.	.	.	.	.	.	.	A	0.020	-1.435902	0.01108	0.0	1.21E-4	ENSG00000146006	ENST00000274711	T	0.56103	0.48	5.3	5.3	0.74995	.	0.182257	0.46145	D	0.000308	T	0.20170	0.0485	N	0.01209	-0.955	0.39136	D	0.961949	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.22977	-1.0201	10	0.11485	T	0.65	.	7.815	0.29254	0.8473:0.0:0.1527:0.0	.	147;281	B7Z4G4;O43300	.;LRRT2_HUMAN	T	281	ENSP00000274711:I281T	ENSP00000274711:I281T	I	-	2	0	LRRTM2	138237307	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.426000	0.59882	2.227000	0.72691	0.528000	0.53228	ATA		0.438	LRRTM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374043.2			8	271	0	0	0	1	0	8	271					G	138209408	A	G	138209408	3	3	334	1	0	0	0	0	1	0	0	0	9040	449	16	3	712	3	LRRTM2	5	138209408	Missense_Mutation	SNP	A	TCGA-EM-A3OA-01A-11D-A21Z-08		138209408	42705852	9	7107											
C6orf153	88745	broad.mit.edu	37	chr6	42989434	42989451	+	In_Frame_Del	DEL	CGGGGCCCGACGTCCCCG	CGGGGCCCGACGTCCCCG	-													gccggggccggggccggggcCggggcccgacgtccccgcgg					rs564567932|rs202053592	byFrequency	TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr6:42989434_42989451delCGGGGCCCGACGTCCCCG	ENST00000244496.5	+	1	52_69	c.42_59delCGGGGCCCGACGTCCCCG	c.(40-60)gccggggcccgacgtccccgc>gcc	p.GARRPR15del		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	15					ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						gggccggggccggggcccgacgtccccgcggggcccgg	0.784														43	0.00858626	0	0.0447	5008	,	,		9842	0.0089		0.002	False		,,,				2504	0.001					ENST00000244496.5																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						c.(40-60)gcc>gc		ribosomal RNA processing 36 homolog (S. cerevisiae)				3,1373		1,1,686						3.5	0.0		dbSNP_129	3	28,2930		7,14,1458	no	coding	RRP36	NM_033112.2		8,15,2144	A1A1,A1R,RR		0.9466,0.218,0.7153				31,4303				SO:0001651	inframe_deletion	88745				ribosomal small subunit biogenesis|rRNA processing	nucleolus		g.chr6:42989434_42989451delCGGGGCCCGACGTCCCCG	BC011933	CCDS34453.1	6p21.1	2010-07-06	2010-07-06	2010-07-06	ENSG00000124541	ENSG00000124541			21374	protein-coding gene	gene with protein product		613475	"chromosome 6 open reading frame 153"	C6orf153		20038530	Standard	NM_033112		Approved	dJ20C7.4	uc003otp.1	Q96EU6	OTTHUMG00000014715	ENST00000244496.5:c.42_59delCGGGGCCCGACGTCCCCG	6.37:g.42989434_42989451delCGGGGCCCGACGTCCCCG	ENSP00000244496:p.Gly15_Arg20del						p.AGARRPR14del	NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN			1	52_69	+			14					Q9BRF6|Q9P0C8	In_Frame_Del	DEL	ENST00000244496.5	37	c.42_59delCGGGGCCCGACGTCCCCG	CCDS34453.1																																																																																				0.784	RRP36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040572.1	NM_033112		3	4						3	4	---	---	---	---	-	42989451	CGGGGCCCGACGTCCCCG	-	42989434	7	5	334	1	0	1	0	1	0	0	0	0	2338	639	23	0	44	0	C6orf153	6	42989434	In_Frame_Del	DEL	CGGGGCCCGACGTCCCCG	TCGA-EM-A3OA-01A-11D-A21Z-08		42989434	128125633	10	7108											
VNN2	8875	broad.mit.edu	37	chr6	133073823	133073823	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccaaaccttccaaatgcGgtgttgaaagtcaccaactc	7	12	1	1	rs141716354		TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr6:133073823G>A	ENST00000326499.6	-	4	727	c.603C>T	c.(601-603)acC>acT	p.T201T	VNN2_ENST00000525270.1_Silent_p.T148T|VNN2_ENST00000526192.1_5'Flank|VNN2_ENST00000525289.1_Intron|RP1-55C23.7_ENST00000430895.1_RNA	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	201	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		TTCCAAATGCGGTGTTGAAAG	0.428																																						ENST00000326499.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(601-603)acC>acT		vanin 2		A	,,	1,4405	2.1+/-5.4	0,1,2202	139	130	133		,603,444	-0.9	0.6	6	dbSNP_134	133	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous,coding-synonymous	VNN2	NM_001242350.1,NM_004665.2,NM_078488.1	,,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,	,201/521,148/468	133073823	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8875				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	g.chr6:133073823G>A	AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"Vanins"	12706	protein-coding gene	gene with protein product	"pantetheinase"	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.603C>T	6.37:g.133073823G>A						RP1-55C23.7_ENST00000430895.1_RNA|VNN2_ENST00000525270.1_Silent_p.T148T|VNN2_ENST00000525289.1_Intron	p.T201T	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)	4	727	-			201			CN hydrolase.		A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Silent	SNP	ENST00000326499.6	37	c.603C>T	CCDS5161.1																																																																																				0.428	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2			27	209	0	0	0	1	0	27	209					A	133073823	G	A	133073823	2	1	334	1	0	0	0	0	0	0	0	1	17180	1103	39	1		1	VNN2	6	133073823	Silent	SNP	G	TCGA-EM-A3OA-01A-11D-A21Z-08	90084389	133073823	38041244	11	7109											
PLEKHG1	57480	broad.mit.edu	37	chr6	151161206	151161206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgaggtcaagatatcccaCgtttgagatcaatacaaaaa	7	8	2	3	rs139978019		TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr6:151161206C>T	ENST00000358517.2	+	16	3543	c.3332C>T	c.(3331-3333)aCg>aTg	p.T1111M	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.T1111M			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1111							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		AGATATCCCACGTTTGAGATC	0.483													C|||	1	0.000199681	0	0	5008	,	,		21802	0.001		0	False		,,,				2504	0					ENST00000367328.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(3331-3333)aCg>aTg		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							80	81	80					6																	151161206		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151161206C>T	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.3332C>T	6.37:g.151161206C>T	ENSP00000351318:p.Thr1111Met					PLEKHG1_ENST00000358517.2_Missense_Mutation_p.T1111M	p.T1111M	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	17	3644	+			1111					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.3332C>T	CCDS34552.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	5.774	0.327242	0.10900	.	.	ENSG00000120278	ENST00000367328;ENST00000358517	T;T	0.59772	0.24;0.24	5.81	3.97	0.46021	.	0.732725	0.13537	N	0.380536	T	0.26085	0.0636	L	0.51422	1.61	0.09310	N	1	B;P	0.44309	0.005;0.832	B;B	0.36504	0.002;0.226	T	0.05616	-1.0874	10	0.33141	T	0.24	.	5.1128	0.14819	0.2546:0.5467:0.0:0.1987	.	918;1111	Q5EBL9;Q9ULL1	.;PKHG1_HUMAN	M	1111	ENSP00000356297:T1111M;ENSP00000351318:T1111M	ENSP00000351318:T1111M	T	+	2	0	PLEKHG1	151202899	0.000000	0.05858	0.407000	0.26434	0.596000	0.36781	0.788000	0.26872	1.462000	0.47948	0.655000	0.94253	ACG		0.483	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			35	47	0	0	0	1	0	35	47					T	151161206	C	T	151161206	3	4	334	1	0	0	0	0	1	0	0	0	12068	536	19	1	3390	1	PLEKHG1	6	151161206	Missense_Mutation	SNP	C	TCGA-EM-A3OA-01A-11D-A21Z-08	18087383	151161206	19953861	12	7110											
ADCYAP1R1	117	broad.mit.edu	37	chr7	31126076	31126076	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgttcatcgagggcctgTacctcttcactctgctggtg	12	12	4	0			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr7:31126076T>C	ENST00000304166.4	+	10	1037	c.748T>C	c.(748-750)Tac>Cac	p.Y250H	ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.Y250H|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.Y229H|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.Y250H	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	250					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CGAGGGCCTGTACCTCTTCAC	0.532																																					Ovarian(44;225 1186 2158 11092)	ENST00000304166.4																			0				endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						c.(748-750)Tac>Cac		adenylate cyclase activating polypeptide 1 (pituitary) receptor type I							228	173	192					7																	31126076		2203	4300	6503	SO:0001583	missense	117				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr7:31126076T>C		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	242	protein-coding gene	gene with protein product	"PACAP receptor 1"	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.748T>C	7.37:g.31126076T>C	ENSP00000306620:p.Tyr250His					ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.Y250H|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.Y229H|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.Y250H	p.Y250H	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN			10	1037	+			250					A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	c.748T>C	CCDS5433.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.423216	0.83559	.	.	ENSG00000078549	ENST00000304166;ENST00000381667;ENST00000409363;ENST00000396211;ENST00000409489	T;T;T;T	0.50548	1.19;1.22;0.74;0.74	5.69	5.69	0.88448	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.70762	0.3261	M	0.83774	2.66	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	1.0;0.999;0.998;0.999;0.999	T	0.75733	-0.3214	10	0.87932	D	0	.	13.8941	0.63761	0.0:0.0:0.0:1.0	.	250;250;250;229;250	B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586	.;.;.;.;PACR_HUMAN	H	250;21;229;250;250	ENSP00000306620:Y250H;ENSP00000387335:Y229H;ENSP00000379514:Y250H;ENSP00000386395:Y250H	ENSP00000306620:Y250H	Y	+	1	0	ADCYAP1R1	31092601	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.162000	0.67917	0.533000	0.62120	TAC		0.532	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		3	44	0	0	0	1	0	3	44					C	31126076	T	C	31126076	3	2	334	1	0	0	0	0	1	0	0	0	303	1638	57	3	782	3	ADCYAP1R1	7	31126076	Missense_Mutation	SNP	T	TCGA-EM-A3OA-01A-11D-A21Z-08		31126076	128012587	13	7111											
RELN	5649	broad.mit.edu	37	chr7	103197509	103197509	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	acattgatgaaaagtatattCgttgtttgaggaaagtaaaa	9	2	0	3			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr7:103197509C>A	ENST00000428762.1	-	38	5871	c.5712G>T	c.(5710-5712)acG>acT	p.T1904T	RELN_ENST00000343529.5_Silent_p.T1904T|RELN_ENST00000424685.2_Silent_p.T1904T	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1904					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)		AAAGTATATTCGTTGTTTGAG	0.403																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			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.(5710-5712)acG>acT		reelin							208	199	202					7																	103197509		2203	4300	6503	SO:0001819	synonymous_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.chr7:103197509C>A		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.5712G>T	7.37:g.103197509C>A						RELN_ENST00000428762.1_Silent_p.T1904T|RELN_ENST00000343529.5_Silent_p.T1904T	p.T1904T			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	38	5871	-			1904					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.5712G>T	CCDS47680.1																																																																																				0.403	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		4	181	1	0	1	1	1	4	181					A	103197509	C	A	103197509	2	1	334	1	0	0	0	0	0	0	0	1	13220	871	31	4		4	RELN	7	103197509	Silent	SNP	C	TCGA-EM-A3OA-01A-11D-A21Z-08	72071433	103197509	55941154	14	7112											
RB1CC1	9821	broad.mit.edu	37	chr8	53580652	53580652	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctggtccagggcgtagagccGatcttcaagtcctttaatgg	12	10	2	1			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr8:53580652G>T	ENST00000025008.5	-	8	1625	c.1102C>A	c.(1102-1104)Cgg>Agg	p.R368R	RB1CC1_ENST00000435644.2_Silent_p.R368R|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Silent_p.R368R	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	368					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)		p.R368R(1)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GCGTAGAGCCGATCTTCAAGT	0.423																																					GBM(180;1701 2102 13475 42023 52570)	ENST00000025008.5																			1	Substitution - coding silent(1)	p.R368R(1)	endometrium(1)	NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(1102-1104)Cgg>Agg		RB1-inducible coiled-coil 1							138	120	126					8																	53580652		2203	4300	6503	SO:0001819	synonymous_variant	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53580652G>T	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"200 kDa FAK family kinase-interacting protein", "phosphatase 1, regulatory subunit 131"	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.1102C>A	8.37:g.53580652G>T						RB1CC1_ENST00000435644.2_Silent_p.R368R|RB1CC1_ENST00000539297.1_Silent_p.R368R|RB1CC1_ENST00000521611.1_Intron	p.R368R	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN			8	1625	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	368					Q86YR4|Q8WVU9|Q92601	Silent	SNP	ENST00000025008.5	37	c.1102C>A	CCDS34892.1																																																																																				0.423	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		3	76	1	0	1	1	1	3	76					T	53580652	G	T	53580652	2	4	334	1	0	0	0	0	0	0	0	1	13099	1057	37	4		4	RB1CC1	8	53580652	Silent	SNP	G	TCGA-EM-A3OA-01A-11D-A21Z-08		53580652	92783370	15	7113											
COLEC10	10584	broad.mit.edu	37	chr8	120114630	120114630	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttggaatacctggagaaaaAggcaaagcaggtacgatatg	12	6	0	1			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr8:120114630A>G	ENST00000332843.2	+	4	377	c.336A>G	c.(334-336)aaA>aaG	p.K112K	COLEC10_ENST00000521788.1_3'UTR	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	112	Collagen-like.					collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	mannose binding (GO:0005537)	p.K112K(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			CTGGAGAAAAAGGCAAAGCAG	0.294																																						ENST00000332843.2																			1	Substitution - coding silent(1)	p.K112K(1)	kidney(1)	endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(334-336)aaA>aaG		collectin sub-family member 10 (C-type lectin)							109	114	112					8																	120114630		2203	4300	6503	SO:0001819	synonymous_variant	10584					collagen|cytoplasm	mannose binding	g.chr8:120114630A>G	AB002631	CCDS6327.1	8q23-q24.1	2007-12-19				ENSG00000184374		"Collectins"	2220	protein-coding gene	gene with protein product		607620				10224141	Standard	NM_006438		Approved	CL-L1	uc003yoo.3	Q9Y6Z7		ENST00000332843.2:c.336A>G	8.37:g.120114630A>G						COLEC10_ENST00000521788.1_3'UTR	p.K112K	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	STAD - Stomach adenocarcinoma(47;0.00113)		4	377	+	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		112			Collagen-like.		Q3SYH6|Q6UW19	Silent	SNP	ENST00000332843.2	37	c.336A>G	CCDS6327.1																																																																																				0.294	COLEC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381225.1			3	88	0	0	0	1	0	3	88					G	120114630	A	G	120114630	2	3	334	1	0	0	0	0	0	0	0	1	3710	69	3	3		3	COLEC10	8	120114630	Silent	SNP	A	TCGA-EM-A3OA-01A-11D-A21Z-08	66533978	120114630	26249392	16	7114											
HSPA5	3309	broad.mit.edu	37	chr9	128001313	128001313	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaattcttgcttgatgctgAgaagacagggcccgtttggc	12	9	2	3			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr9:128001313A>G	ENST00000324460.6	-	5	1106	c.903T>C	c.(901-903)tcT>tcC	p.S301S	RP11-65N13.8_ENST00000468244.1_RNA	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	301					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	CTTGATGCTGAGAAGACAGGG	0.458										Prostate(1;0.17)																												ENST00000324460.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23						c.(901-903)tcT>tcC		heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	Antihemophilic Factor(DB00025)						69	69	69					9																	128001313		2203	4300	6503	SO:0001819	synonymous_variant	3309				anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding	g.chr9:128001313A>G		CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"Heat shock proteins / HSP70"	5238	protein-coding gene	gene with protein product		138120	"heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.903T>C	9.37:g.128001313A>G		Prostate(1;0.17)					p.S301S	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN			5	1106	-			301					B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Silent	SNP	ENST00000324460.6	37	c.903T>C	CCDS6863.1																																																																																				0.458	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1			34	28	0	0	0	1	0	34	28					G	128001313	A	G	128001313	2	3	334	1	0	0	0	0	0	0	0	1	7414	291	11	3		3	HSPA5	9	128001313	Silent	SNP	A	TCGA-EM-A3OA-01A-11D-A21Z-08		128001313	13212118	17	7115											
COL5A1	1289	broad.mit.edu	37	chr9	137630645	137630645	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actggccaagtcggggacccTggagaaagggtaagaggttg	17	7	0	2			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr9:137630645T>A	ENST00000371817.3	+	11	1899	c.1485T>A	c.(1483-1485)ccT>ccA	p.P495P		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	495	Interrupted collagenous region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TCGGGGACCCTGGAGAAAGGG	0.577																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(1483-1485)ccT>ccA		collagen, type V, alpha 1							75	77	76					9																	137630645		2203	4300	6503	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137630645T>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1485T>A	9.37:g.137630645T>A							p.P495P	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	11	1899	+		Myeloproliferative disorder(178;0.0341)	495			Interrupted collagenous region.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.1485T>A	CCDS6982.1																																																																																				0.577	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		4	139	0	0	0	1	0	4	139					A	137630645	T	A	137630645	2	1	334	1	0	0	0	0	0	0	0	1	3696	1567	55	5		5	COL5A1	9	137630645	Silent	SNP	T	TCGA-EM-A3OA-01A-11D-A21Z-08	9629332	137630645	3582786	18	7116											
JMJD1C	221037	broad.mit.edu	37	chr10	64973724	64973724	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaagaggaaaaggatgctGgcttaggaaaggtgaaatat	15	2	0	3			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr10:64973724G>A	ENST00000399262.2	-	8	2421	c.2203C>T	c.(2203-2205)Cag>Tag	p.Q735*	JMJD1C_ENST00000402544.1_Nonsense_Mutation_p.Q516*|JMJD1C_ENST00000399251.1_Nonsense_Mutation_p.Q516*|JMJD1C_ENST00000489372.2_5'Flank|JMJD1C_ENST00000542921.1_Nonsense_Mutation_p.Q553*	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	735					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)					AAAGGATGCTGGCTTAGGAAA	0.418																																						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.(2203-2205)Cag>Tag		jumonji domain containing 1C							122	108	113					10																	64973724		1920	4151	6071	SO:0001587	stop_gained	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.chr10:64973724G>A	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.2203C>T	10.37:g.64973724G>A	ENSP00000382204:p.Gln735*					JMJD1C_ENST00000402544.1_Nonsense_Mutation_p.Q516*|JMJD1C_ENST00000542921.1_Nonsense_Mutation_p.Q553*|JMJD1C_ENST00000399251.1_Nonsense_Mutation_p.Q516*	p.Q735*	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			8	2421	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		735					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Nonsense_Mutation	SNP	ENST00000399262.2	37	c.2203C>T	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	G	46	12.339076	0.99658	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	.	.	.	6.17	5.26	0.73747	.	0.392398	0.28933	N	0.013671	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-2.7796	15.9972	0.80260	0.065:0.0:0.935:0.0	.	.	.	.	X	735;516;516;553	.	ENSP00000382195:Q516X	Q	-	1	0	JMJD1C	64643730	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.975000	0.70475	2.941000	0.99782	0.655000	0.94253	CAG		0.418	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		18	93	0	0	0	1	0	18	93					A	64973724	G	A	64973724	4	1	334	1	0	0	0	0	0	1	0	0	7950	1357	47	2	5495	2	JMJD1C	10	64973724	Nonsense_Mutation	SNP	G	TCGA-EM-A3OA-01A-11D-A21Z-08		64973724	70561023	19	7117											
OR4X1	390113	broad.mit.edu	37	chr11	48286142	48286142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtgcctctcatgtcacaGttgtcgacctgttcttcata	7	13	4	0			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr11:48286142G>A	ENST00000320048.1	+	1	730	c.730G>A	c.(730-732)Gtt>Att	p.V244I		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TCATGTCACAGTTGTCGACCT	0.517																																						ENST00000320048.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						c.(730-732)Gtt>Att		olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)							162	147	152					11																	48286142		2201	4298	6499	SO:0001583	missense	390113				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48286142G>A	AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"GPCR / Class A : Olfactory receptors"	14854	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily X, member 1"				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.730G>A	11.37:g.48286142G>A	ENSP00000321506:p.Val244Ile						p.V244I	NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN			1	730	+			244					Q6IF74	Missense_Mutation	SNP	ENST00000320048.1	37	c.730G>A	CCDS31487.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.691719	0.30052	.	.	ENSG00000176567	ENST00000320048	T	0.00253	8.43	4.17	4.17	0.49024	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00666	0.0022	M	0.85542	2.76	0.09310	N	0.999995	D	0.76494	0.999	D	0.87578	0.998	T	0.48175	-0.9058	9	0.72032	D	0.01	.	14.3574	0.66748	0.0:0.0:1.0:0.0	.	244	Q8NH49	OR4X1_HUMAN	I	244	ENSP00000321506:V244I	ENSP00000321506:V244I	V	+	1	0	OR4X1	48242718	0.661000	0.27430	0.106000	0.21319	0.022000	0.10575	2.949000	0.49074	2.308000	0.77769	0.563000	0.77884	GTT		0.517	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726		12	150	0	0	0	1	0	12	150					A	48286142	G	A	48286142	3	1	334	1	0	0	0	0	1	0	0	0	11084	1029	36	2	732	2	OR4X1	11	48286142	Missense_Mutation	SNP	G	TCGA-EM-A3OA-01A-11D-A21Z-08		48286142	86720374	20	7118											
TUBA1A	7846	broad.mit.edu	37	chr12	49580524	49580524	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacttggcatctggccatcGggctggatgccgtgttccag	13	12	2	0	rs139102191		TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr12:49580524G>A	ENST00000295766.5	-	2	575	c.96C>T	c.(94-96)ccC>ccT	p.P32P	TUBA1A_ENST00000301071.7_Silent_p.P32P|TUBA1A_ENST00000550767.1_5'UTR|TUBA1A_ENST00000546918.1_Silent_p.P32P	NM_001270399.1	NP_001257328.1	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	32					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			stomach(1)|upper_aerodigestive_tract(1)	2					Albendazole(DB00518)|Mebendazole(DB00643)|Vinblastine(DB00570)	TCTGGCCATCGGGCTGGATGC	0.602													G|||	1	0.000199681	8e-04	0	5008	,	,		15769	0		0	False		,,,				2504	0				Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)	ENST00000301071.7																			0				stomach(1)|upper_aerodigestive_tract(1)	2						c.(94-96)ccC>ccT		tubulin, alpha 1a		G		3,4403	4.2+/-10.8	0,3,2200	78	70	73		96	0.2	1.0	12	dbSNP_134	73	0,8594		0,0,4297	no	coding-synonymous	TUBA1A	NM_006009.2		0,3,6497	AA,AG,GG		0.0,0.0681,0.0231		32/452	49580524	3,12997	2203	4297	6500	SO:0001819	synonymous_variant	7846				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr12:49580524G>A	AF141347	CCDS8781.1, CCDS58226.1, CCDS58227.1	12q13.12	2007-02-07						"Tubulins"	20766	protein-coding gene	gene with protein product	"tubulin, alpha, brain-specific"	602529				11504633, 3839072	Standard	NM_006009		Approved	TUBA3, B-ALPHA-1, FLJ25113	uc010smg.1	Q71U36	OTTHUMG00000169511	ENST00000295766.5:c.96C>T	12.37:g.49580524G>A						TUBA1A_ENST00000546918.1_Silent_p.P32P|TUBA1A_ENST00000550767.1_5'UTR|TUBA1A_ENST00000295766.5_Silent_p.P32P	p.P32P	NM_001270400.1|NM_006009.3	NP_001257329.1|NP_006000.2	Q71U36	TBA1A_HUMAN			2	440	-			32					A8K0B8|G3V1U9|P04687|P05209	Silent	SNP	ENST00000295766.5	37	c.96C>T	CCDS58227.1																																																																																				0.602	TUBA1A-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404547.2	NM_006009		7	136	0	0	0	1	0	7	136					A	49580524	G	A	49580524	2	1	334	1	0	0	0	0	0	0	0	1	16740	1103	39	1		1	TUBA1A	12	49580524	Silent	SNP	G	TCGA-EM-A3OA-01A-11D-A21Z-08		49580524	84271371	21	7119											
TUBA3C	7278	broad.mit.edu	37	chr13	19751149	19751149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccgcgttgacatctttcGggaccacatcccccctgtac	9	16	1	1	rs572405672		TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr13:19751149G>A	ENST00000400113.3	-	4	1078	c.974C>T	c.(973-975)cCg>cTg	p.P325L		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	325					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GACATCTTTCGGGACCACATC	0.542													G|||	1	0.000199681	0	0.0014	5008	,	,		18321	0		0	False		,,,				2504	0					ENST00000400113.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(973-975)cCg>cTg		tubulin, alpha 3c							159	131	141					13																	19751149		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19751149G>A	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"Tubulins"	12408	protein-coding gene	gene with protein product		602528	"tubulin, alpha 2"	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.974C>T	13.37:g.19751149G>A	ENSP00000382982:p.Pro325Leu						p.P325L	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	4	1078	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	325					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.974C>T	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	g	11.41	1.631060	0.28978	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.84370	-1.84	1.21	0.295	0.15752	.	0.000000	0.47852	U	0.000215	D	0.85173	0.5636	.	.	.	0.52099	D	0.999947	.	.	.	.	.	.	T	0.81389	-0.0955	7	0.87932	D	0	.	5.6914	0.17831	0.2073:0.0:0.7927:0.0	.	.	.	.	L	325	ENSP00000382982:P325L	ENSP00000354037:P325L	P	-	2	0	TUBA3C	18649149	1.000000	0.71417	0.967000	0.41034	0.666000	0.39218	4.955000	0.63638	0.076000	0.16826	0.184000	0.17185	CCG		0.542	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		4	164	0	0	0	1	0	4	164					A	19751149	G	A	19751149	3	1	334	1	0	0	0	0	1	0	0	0	16743	1116	39	1	386	1	TUBA3C	13	19751149	Missense_Mutation	SNP	G	TCGA-EM-A3OA-01A-11D-A21Z-08		19751149	95418729	22	7120											
MPV17L	255027	broad.mit.edu	37	chr16	15490060	15490060	+	Frame_Shift_Del	DEL	T	T	-													atcgcggtctcggccttctaTgtcggtgaggggccgggagg							TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr16:15490060delT	ENST00000396385.3	+	1	425	c.306delT	c.(304-306)tatfs	p.Y102fs	MPV17L_ENST00000287594.7_Frame_Shift_Del_p.Y102fs|RP11-1021N1.1_ENST00000568222.1_Frame_Shift_Del_p.M85fs	NM_001128423.1	NP_001121895.1	Q2QL34	MP17L_HUMAN	MPV17 mitochondrial membrane protein-like	102					negative regulation of hydrogen peroxide biosynthetic process (GO:0010730)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|reactive oxygen species metabolic process (GO:0072593)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	receptor binding (GO:0005102)			kidney(2)|large_intestine(1)|skin(1)	4						CGGCCTTCTATGTCGGTGAGG	0.721																																						ENST00000287594.6																			0				kidney(2)|large_intestine(1)|skin(1)	4						c.(304-306)tafs		MPV17 mitochondrial membrane protein-like							6	6	6					16																	15490060		2054	3962	6016	SO:0001589	frameshift_variant	255027					integral to membrane|peroxisomal membrane		g.chr16:15490060delT	DQ004255	CCDS10560.1, CCDS45421.1	16p13.11	2009-04-06			ENSG00000156968	ENSG00000156968			26827	protein-coding gene	gene with protein product						16631601	Standard	NM_001128423		Approved	FLJ39599, MLPH1, MLPH2, MPV17L1	uc002ddn.2	Q2QL34	OTTHUMG00000129882	ENST00000396385.3:c.306delT	16.37:g.15490060delT	ENSP00000379669:p.Tyr102fs					RP11-1021N1.1_ENST00000568222.1_Frame_Shift_Del_p.M85fs|MPV17L_ENST00000396385.3_Frame_Shift_Del_p.Y102fs	p.Y102fs	NM_173803.3	NP_776164.2	Q2QL34	MP17L_HUMAN			1	450	+			102					B4DDY1|Q6P7T6|Q8N8E9	Frame_Shift_Del	DEL	ENST00000396385.3	37	c.306delT	CCDS45421.1																																																																																				0.721	MPV17L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422450.1	NM_173803		2	4						2	4	---	---	---	---	-	15490060	T	-	15490060	7	5	334	1	0	1	0	1	0	0	0	0	9746	1471	51	0	308	0	MPV17L	16	15490060	Frame_Shift_Del	DEL	T	TCGA-EM-A3OA-01A-11D-A21Z-08		15490060	74864693	23	7121											
ZNF785	146540	broad.mit.edu	37	chr16	30594124	30594124	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccggtgactgaggaggagGgaagaataggtgaagcggcg	20	6	0	4			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr16:30594124G>A	ENST00000395216.2	-	3	1134	c.975C>T	c.(973-975)tcC>tcT	p.S325S	AC002310.7_ENST00000492040.1_RNA|ZNF785_ENST00000470110.1_Silent_p.S310S|AC002310.7_ENST00000486926.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	325					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(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						TGAGGAGGAGGGAAGAATAGG	0.642																																						ENST00000395216.2																			0				endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						c.(973-975)tcC>tcT		zinc finger protein 785							54	61	58					16																	30594124		2197	4300	6497	SO:0001819	synonymous_variant	146540				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30594124G>A	BC040642	CCDS10685.1	16p11.2	2013-01-08			ENSG00000197162	ENSG00000197162		"Zinc fingers, C2H2-type", "-"	26496	protein-coding gene	gene with protein product						10493829	Standard	NM_152458		Approved	FLJ32130	uc002dyu.3	A8K8V0	OTTHUMG00000132398	ENST00000395216.2:c.975C>T	16.37:g.30594124G>A						AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA|ZNF785_ENST00000470110.1_Silent_p.S310S	p.S325S	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN			3	1134	-			325					O75701|Q8IW91|Q8WV14|Q96MN0	Silent	SNP	ENST00000395216.2	37	c.975C>T	CCDS10685.1																																																																																				0.642	ZNF785-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255529.2	NM_152458		8	76	0	0	0	1	0	8	76					A	30594124	G	A	30594124	2	1	334	1	0	0	0	0	0	0	0	1	18154	1219	43	2		2	ZNF785	16	30594124	Silent	SNP	G	TCGA-EM-A3OA-01A-11D-A21Z-08	15104064	30594124	59760629	24	7122											
MFSD6L	162387	broad.mit.edu	37	chr17	8701591	8701591	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	agacccacaggcttctgtatCggtcagtggcatccacaaaa	9	12	2	1			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr17:8701591C>G	ENST00000329805.4	-	1	1076	c.848G>C	c.(847-849)cGa>cCa	p.R283P		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	283						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						GCTTCTGTATCGGTCAGTGGC	0.592																																						ENST00000329805.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						c.(847-849)cGa>cCa		major facilitator superfamily domain containing 6-like							62	60	61					17																	8701591		2203	4300	6503	SO:0001583	missense	162387					integral to membrane		g.chr17:8701591C>G	AK093092	CCDS11146.1	17p13.1	2014-05-30			ENSG00000185156	ENSG00000185156			26656	protein-coding gene	gene with protein product							Standard	NM_152599		Approved	FLJ35773	uc002glp.2	Q8IWD5	OTTHUMG00000178584	ENST00000329805.4:c.848G>C	17.37:g.8701591C>G	ENSP00000330051:p.Arg283Pro						p.R283P	NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN			1	1076	-			283					Q6YL34|Q8NA76	Missense_Mutation	SNP	ENST00000329805.4	37	c.848G>C	CCDS11146.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.281563	0.40394	.	.	ENSG00000185156	ENST00000329805	D	0.87491	-2.26	4.93	2.96	0.34315	.	0.162291	0.37715	N	0.001974	D	0.90366	0.6985	M	0.69823	2.125	0.33536	D	0.594239	D	0.71674	0.998	D	0.68943	0.961	D	0.89694	0.3900	10	0.30854	T	0.27	-13.082	8.183	0.31322	0.0:0.7405:0.0:0.2595	.	283	Q8IWD5	MFS6L_HUMAN	P	283	ENSP00000330051:R283P	ENSP00000330051:R283P	R	-	2	0	MFSD6L	8642316	0.995000	0.38212	0.154000	0.22540	0.479000	0.33129	3.315000	0.51951	0.673000	0.31224	0.655000	0.94253	CGA		0.592	MFSD6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442554.1	NM_152599		10	99	0	0	0	1	0	10	99					G	8701591	C	G	8701591	3	3	334	1	0	0	0	0	1	0	0	0	9536	884	31	4	916	4	MFSD6L	17	8701591	Missense_Mutation	SNP	C	TCGA-EM-A3OA-01A-11D-A21Z-08		8701591	72493619	25	7123											
TBC1D26	353149	broad.mit.edu	37	chr17	15641610	15641610	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagctgtctcaaagagtatAcaaagtcattcccctggcgg	10	10	2	1	rs202131240		TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr17:15641610A>G	ENST00000437605.2	+	7	546	c.296A>G	c.(295-297)tAc>tGc	p.Y99C	ZNF286A_ENST00000413242.2_3'UTR|TBC1D26_ENST00000579428.1_Missense_Mutation_p.Y99C|AC005324.6_ENST00000580194.1_RNA|AC005324.6_ENST00000434017.1_RNA|AC005324.6_ENST00000433873.1_RNA	NM_178571.4	NP_848666	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	99							Rab GTPase activator activity (GO:0005097)			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		CAAAGAGTATACAAAGTCATT	0.527																																						ENST00000437605.2																			0				endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7						c.(295-297)tAc>tGc		TBC1 domain family, member 26							94	90	91					17																	15641610		1953	4139	6092	SO:0001583	missense	353149					intracellular	Rab GTPase activator activity	g.chr17:15641610A>G		CCDS42265.1	17p11.2	2008-11-04			ENSG00000214946	ENSG00000214946			28745	protein-coding gene	gene with protein product						11347906	Standard	NM_178571		Approved	MGC51025	uc010cov.3	Q86UD7	OTTHUMG00000059071	ENST00000437605.2:c.296A>G	17.37:g.15641610A>G	ENSP00000410111:p.Tyr99Cys					ZNF286A_ENST00000413242.2_3'UTR|TBC1D26_ENST00000579428.1_Missense_Mutation_p.Y99C|AC005324.6_ENST00000434017.1_RNA	p.Y99C	NM_178571.4	NP_848666.2	Q86UD7	TBC26_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)	7	546	+			99					A8K929|Q4G172	Missense_Mutation	SNP	ENST00000437605.2	37	c.296A>G	CCDS42265.1	.	.	.	.	.	.	.	.	.	.	a	6.884	0.532498	0.13127	.	.	ENSG00000214946	ENST00000437605	T	0.40756	1.02	1.44	-0.0271	0.13927	Rab-GAP/TBC domain (2);	0.436109	0.22940	U	0.053784	T	0.48943	0.1528	L	0.58583	1.82	0.19945	N	0.999948	D;D	0.76494	0.999;0.981	D;D	0.67231	0.95;0.914	T	0.36601	-0.9741	10	0.52906	T	0.07	.	3.1782	0.06576	0.6204:0.0:0.0:0.3796	.	99;99	Q86UD7;Q86UD7-2	TBC26_HUMAN;.	C	99	ENSP00000410111:Y99C	ENSP00000410111:Y99C	Y	+	2	0	TBC1D26	15582335	0.952000	0.32445	0.008000	0.14137	0.029000	0.11900	1.676000	0.37565	-0.258000	0.09446	0.338000	0.21704	TAC		0.527	TBC1D26-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178571		3	59	0	0	0	1	0	3	59					G	15641610	A	G	15641610	3	3	334	1	0	0	0	0	1	0	0	0	15613	391	14	3	314	3	TBC1D26	17	15641610	Missense_Mutation	SNP	A	TCGA-EM-A3OA-01A-11D-A21Z-08	6940019	15641610	65553600	26	7124											
ASPSCR1	79058	broad.mit.edu	37	chr17	79952715	79952715	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggagtgcctgcagcacccCggcggggccaccccagtctg	15	16	1	0	rs370178683	byFrequency	TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr17:79952715C>T	ENST00000306739.4	+	5	490	c.393C>T	c.(391-393)ccC>ccT	p.P131P	ASPSCR1_ENST00000306729.7_Silent_p.P131P|ASPSCR1_ENST00000581647.1_Silent_p.P131P|ASPSCR1_ENST00000580534.1_Silent_p.P54P	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	131					glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)			ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TGCAGCACCCCGGCGGGGCCA	0.647			T	TFE3	alveolar soft part sarcoma								C|||	2	0.000399361	0	0	5008	,	,		15239	0		0	False		,,,				2504	0.002					ENST00000306729.7				Dom	yes		17	17q25	79058	T	"alveolar soft part sarcoma chromosome region, candidate 1"			M	TFE3		alveolar soft part sarcoma	ASPSCR1/TFE3(167)	0				breast(2)|large_intestine(2)	4						c.(391-393)ccC>ccT		alveolar soft part sarcoma chromosome region, candidate 1		C		0,4406		0,0,2203	71	78	76		393	-3.5	0.0	17		76	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ASPSCR1	NM_024083.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		131/554	79952715	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79058						protein binding	g.chr17:79952715C>T	AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"UBX domain containing"	13825	protein-coding gene	gene with protein product	"UBX domain protein 9"	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.393C>T	17.37:g.79952715C>T						ASPSCR1_ENST00000306739.4_Silent_p.P131P|ASPSCR1_ENST00000581647.1_Silent_p.P131P|ASPSCR1_ENST00000580534.1_Silent_p.P54P	p.P131P	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		5	490	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		131					A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Silent	SNP	ENST00000306739.4	37	c.393C>T	CCDS11796.1																																																																																				0.647	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441972.1	NM_024083		30	64	0	0	0	1	0	30	64					T	79952715	C	T	79952715	2	4	334	1	0	0	0	0	0	0	0	1	1059	639	23	1		1	ASPSCR1	17	79952715	Silent	SNP	C	TCGA-EM-A3OA-01A-11D-A21Z-08	64311105	79952715	1242495	27	7125											
KIAA1632	57724	broad.mit.edu	37	chr18	43532379	43532379	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacatacctcggccttgctgGtgaattgctgaagatctcag	10	10	1	3			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr18:43532379G>A	ENST00000282041.5	-	3	1273	c.1239C>T	c.(1237-1239)caC>caT	p.H413H		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	413					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GGCCTTGCTGGTGAATTGCTG	0.393																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(1237-1239)caC>caT		ectopic P-granules autophagy protein 5 homolog (C. elegans)							113	104	107					18																	43532379		1899	4133	6032	SO:0001819	synonymous_variant	57724				autophagy			g.chr18:43532379G>A	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.1239C>T	18.37:g.43532379G>A							p.H413H	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			3	1273	-			413					A2BDF3|Q9H8C8	Silent	SNP	ENST00000282041.5	37	c.1239C>T	CCDS11926.2																																																																																				0.393	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		62	92	0	0	0	1	0	62	92					A	43532379	G	A	43532379	2	1	334	1	0	0	0	0	0	0	0	1	8249	1252	44	2		2	KIAA1632	18	43532379	Silent	SNP	G	TCGA-EM-A3OA-01A-11D-A21Z-08		43532379	34544869	28	7126											
DYRK1B	9149	broad.mit.edu	37	chr19	40318195	40318195	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctccggtgtgcatctccacAaggatgcagcccagggacca	11	14	2	0			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr19:40318195A>G	ENST00000593685.1	-	7	1377	c.909T>C	c.(907-909)ctT>ctC	p.L303L	DYRK1B_ENST00000348817.3_Silent_p.L303L|DYRK1B_ENST00000430012.2_Silent_p.L303L|DYRK1B_ENST00000323039.5_Silent_p.L303L|DYRK1B_ENST00000597639.1_Silent_p.L303L			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	303	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GCATCTCCACAAGGATGCAGC	0.627																																						ENST00000593685.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(907-909)ctT>ctC		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B							61	55	57					19																	40318195		2203	4300	6503	SO:0001819	synonymous_variant	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40318195A>G	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"minibrain-related kinase"	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.909T>C	19.37:g.40318195A>G						DYRK1B_ENST00000597639.1_Silent_p.L303L|DYRK1B_ENST00000430012.2_Silent_p.L303L|DYRK1B_ENST00000348817.3_Silent_p.L303L|DYRK1B_ENST00000323039.5_Silent_p.L303L	p.L303L			Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		7	1377	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		303			Protein kinase.		O75258|O75788|O75789	Silent	SNP	ENST00000593685.1	37	c.909T>C	CCDS12543.1																																																																																				0.627	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		3	64	0	0	0	1	0	3	64					G	40318195	A	G	40318195	2	3	334	1	0	0	0	0	0	0	0	1	4855	117	5	3		3	DYRK1B	19	40318195	Silent	SNP	A	TCGA-EM-A3OA-01A-11D-A21Z-08		40318195	18810788	29	7127											
CABP5	56344	broad.mit.edu	37	chr19	48537535	48537535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaacctcagagatctcccGgggggtgagccgctccccca	12	16	2	2	rs367863199		TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr19:48537535G>A	ENST00000293255.2	-	5	563	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	145	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		GAGATCTCCCGGGGGGTGAGC	0.592																																						ENST00000293255.2																			0				endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11						c.(433-435)Cgg>Tgg		calcium binding protein 5		G	TRP/ARG	0,4406		0,0,2203	44	41	42		433	2.8	0.2	19		42	1,8599	1.2+/-3.3	0,1,4299	no	missense	CABP5	NM_019855.4	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	145/174	48537535	1,13005	2203	4300	6503	SO:0001583	missense	56344				signal transduction	cytoplasm	calcium ion binding	g.chr19:48537535G>A	AF169159	CCDS12709.1	19q13.33	2014-08-12			ENSG00000105507	ENSG00000105507		"EF-hand domain containing"	13714	protein-coding gene	gene with protein product		607315	"calcium binding protein 3"	CABP3		10625670	Standard	NM_019855		Approved	CaBP3	uc002phu.2	Q9NP86	OTTHUMG00000183139	ENST00000293255.2:c.433C>T	19.37:g.48537535G>A	ENSP00000293255:p.Arg145Trp						p.R145W	NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)	5	563	-		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)	145			EF-hand 4.		A0AUY4	Missense_Mutation	SNP	ENST00000293255.2	37	c.433C>T	CCDS12709.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494564	0.44352	0.0	1.16E-4	ENSG00000105507	ENST00000293255	T	0.71934	-0.61	5.01	2.84	0.33178	EF-hand-like domain (1);	0.270585	0.33309	N	0.005055	T	0.67915	0.2944	L	0.45352	1.415	0.09310	N	0.999998	D	0.65815	0.995	P	0.53266	0.722	T	0.59947	-0.7358	10	0.87932	D	0	-3.7414	6.2504	0.20842	0.0872:0.0:0.5861:0.3267	.	145	Q9NP86	CABP5_HUMAN	W	145	ENSP00000293255:R145W	ENSP00000293255:R145W	R	-	1	2	CABP5	53229347	0.005000	0.15991	0.187000	0.23214	0.776000	0.43924	1.559000	0.36320	0.627000	0.30340	-0.314000	0.08810	CGG		0.592	CABP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465212.1	NM_019855		4	54	0	0	0	1	0	4	54					A	48537535	G	A	48537535	3	1	334	1	0	0	0	0	1	0	0	0	2534	1115	39	1	96	1	CABP5	19	48537535	Missense_Mutation	SNP	G	TCGA-EM-A3OA-01A-11D-A21Z-08	8219340	48537535	10591448	30	7128											
SNTA1	6640	broad.mit.edu	37	chr20	32026782	32026782	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtctggtcagctgccaAtcccttgaagatcttggaaa	9	11	4	2			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr20:32026782A>G	ENST00000217381.2	-	2	632	c.361T>C	c.(361-363)Ttg>Ctg	p.L121L		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	121	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.|PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|neuromuscular junction development (GO:0007528)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of vasoconstriction by circulating norepinephrine (GO:0003117)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular (GO:0005622)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	ATPase binding (GO:0051117)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						TCAGCTGCCAATCCCTTGAAG	0.527																																						ENST00000217381.2																			0				breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						c.(361-363)Ttg>Ctg		syntrophin, alpha 1							126	123	124					20																	32026782		2203	4300	6503	SO:0001819	synonymous_variant	6640				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding	g.chr20:32026782A>G	U40571	CCDS13220.1	20q11.2	2014-09-17	2012-06-15		ENSG00000101400	ENSG00000101400			11167	protein-coding gene	gene with protein product	"pro-TGF-alpha cytoplasmic domain-interacting protein 1", "dystrophin-associated protein A1, 59kDa, acidic component"	601017	"syntrophin, alpha 1 (dystrophin-associated protein A1, 59kD, acidic component)"	SNT1		8576247, 8612778	Standard	NM_003098		Approved	TACIP1, LQT12	uc002wzd.1	Q13424	OTTHUMG00000032259	ENST00000217381.2:c.361T>C	20.37:g.32026782A>G							p.L121L	NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN			2	632	-			121			PDZ.|PH 1.		A8K7H9|B4DX40|E1P5N1|Q16438	Silent	SNP	ENST00000217381.2	37	c.361T>C	CCDS13220.1																																																																																				0.527	SNTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078704.2	NM_003098		32	127	0	0	0	1	0	32	127					G	32026782	A	G	32026782	2	3	334	1	0	0	0	0	0	0	0	1	14871	98	4	3		3	SNTA1	20	32026782	Silent	SNP	A	TCGA-EM-A3OA-01A-11D-A21Z-08		32026782	30998738	31	7129											
BCAS1	8537	broad.mit.edu	37	chr20	52561526	52561526	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacttgagcatccaacatccGctttggtccctggagaaaaa	8	12	0	2	rs147771144		TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr20:52561526G>T	ENST00000395961.3	-	12	1856	c.1690C>A	c.(1690-1692)Cgg>Agg	p.R564R	AC005220.3_ENST00000450473.1_RNA|BCAS1_ENST00000371440.3_Silent_p.R573R|BCAS1_ENST00000434986.2_Silent_p.R230R|BCAS1_ENST00000371435.2_Silent_p.R486R	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	564						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.R564W(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TCCAACATCCGCTTTGGTCCC	0.478																																						ENST00000395961.3																			1	Substitution - Missense(1)	p.R564W(1)	lung(1)	NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37						c.(1690-1692)Cgg>Agg		breast carcinoma amplified sequence 1							260	232	242					20																	52561526		2203	4300	6503	SO:0001819	synonymous_variant	8537					cytoplasm	protein binding	g.chr20:52561526G>T	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.1690C>A	20.37:g.52561526G>T						BCAS1_ENST00000434986.2_Silent_p.R230R|BCAS1_ENST00000371440.3_Silent_p.R573R|BCAS1_ENST00000371435.2_Silent_p.R486R	p.R564R	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		12	1856	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		564					A0AVG5|Q68CZ3	Silent	SNP	ENST00000395961.3	37	c.1690C>A	CCDS13444.1	.	.	.	.	.	.	.	.	.	.	G	9.489	1.100177	0.20552	.	.	ENSG00000064787	ENST00000422805	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	T	0.63438	0.2511	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61869	-0.6974	4	.	.	.	-9.0023	11.5302	0.50604	0.0:0.0:0.8086:0.1914	.	.	.	.	R	226	.	.	S	-	3	2	BCAS1	51994933	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.021000	0.57196	2.423000	0.82170	0.561000	0.74099	AGC		0.478	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		6	228	1	0	3.59834e-05	1	3.92546e-05	6	228					T	52561526	G	T	52561526	2	4	334	1	0	0	0	0	0	0	0	1	1350	1086	38	4		4	BCAS1	20	52561526	Silent	SNP	G	TCGA-EM-A3OA-01A-11D-A21Z-08	20534744	52561526	10463994	32	7130											
FAM47C	442444	broad.mit.edu	37	chrX	37027156	37027156	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagtgtcccatctccgcccaCagcctcccaagactcaggtg	9	17	2	1	rs368685662		TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chrX:37027156C>G	ENST00000358047.3	+	1	725	c.673C>G	c.(673-675)Cag>Gag	p.Q225E		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	225										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCTCCGCCCACAGCCTCCCAA	0.647																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(673-675)Cag>Gag		family with sequence similarity 47, member C							41	41	41					X																	37027156		2202	4298	6500	SO:0001583	missense	442444							g.chrX:37027156C>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.673C>G	X.37:g.37027156C>G	ENSP00000367913:p.Gln225Glu						p.Q225E	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	725	+			225					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.673C>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.683783	0.00101	.	.	ENSG00000198173	ENST00000358047	T	0.12672	2.66	0.96	0.96	0.19631	.	.	.	.	.	T	0.01870	0.0059	N	0.00114	-2.085	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37337	-0.9710	9	0.02654	T	1	.	2.8694	0.05611	0.2407:0.2933:0.466:0.0	.	225	Q5HY64	FA47C_HUMAN	E	225	ENSP00000367913:Q225E	ENSP00000367913:Q225E	Q	+	1	0	FAM47C	36937077	0.000000	0.05858	0.016000	0.15963	0.016000	0.09150	-3.060000	0.00624	-1.049000	0.03234	-1.043000	0.02367	CAG		0.647	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		3	120	0	0	0	1	0	3	120					G	37027156	C	G	37027156	3	3	334	1	0	0	0	0	1	0	0	0	5571	479	17	4	675	4	FAM47C	23	37027156	Missense_Mutation	SNP	C	TCGA-EM-A3OA-01A-11D-A21Z-08		37027156	118243404	33	7131											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290	byFrequency	TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		neuroblastoma RAS viral (v-ras) oncogene homolog							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		95	118	0	0	0	1	0	95	118					C	115256529	T	C	115256529	3	2	335	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-EM-A3OB-01A-11D-A21Z-08		115256529	133994092	1	7132											
ALPP	250	broad.mit.edu	37	chr2	233243933	233243933	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggggtgtctacggtgacaGctgccaggatcctaaaaggg	16	8	1	1			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr2:233243933G>A	ENST00000392027.2	+	3	486	c.217G>A	c.(217-219)Gct>Act	p.A73T	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	73					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TACGGTGACAGCTGCCAGGAT	0.602																																						ENST00000392027.2																			0				NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22						c.(217-219)Gct>Act		alkaline phosphatase, placental							95	97	96					2																	233243933		2203	4300	6503	SO:0001583	missense	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233243933G>A	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"Regan isozyme"	171800	"alkaline phosphatase, placental (Regan isozyme)"			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.217G>A	2.37:g.233243933G>A	ENSP00000375881:p.Ala73Thr						p.A73T	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	3	486	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	73					P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	ENST00000392027.2	37	c.217G>A	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	.	24.9	4.580189	0.86645	.	.	ENSG00000163283	ENST00000392027	D	0.97850	-4.57	2.47	2.47	0.30058	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98845	0.9610	M	0.93507	3.425	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.98922	1.0784	10	0.56958	D	0.05	.	12.9646	0.58478	0.0:0.0:1.0:0.0	.	73	P05187	PPB1_HUMAN	T	73	ENSP00000375881:A73T	ENSP00000375881:A73T	A	+	1	0	ALPP	232952177	1.000000	0.71417	0.615000	0.29064	0.439000	0.31926	9.039000	0.93777	1.379000	0.46325	0.298000	0.19748	GCT		0.602	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		3	91	0	0	0	1	0	3	91					A	233243933	G	A	233243933	3	1	335	1	0	0	0	0	1	0	0	0	548	971	34	2	227	2	ALPP	2	233243933	Missense_Mutation	SNP	G	TCGA-EM-A3OB-01A-11D-A21Z-08		233243933	9955440	2	7133											
UTP3	57050	broad.mit.edu	37	chr4	71555625	71555625	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcaaaatgcaaagagagctAttacctatcaaattgctaaa	5	7	2	1	rs376767606		TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr4:71555625A>G	ENST00000254803.2	+	1	1430	c.1231A>G	c.(1231-1233)Att>Gtt	p.I411V		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	411					brain development (GO:0007420)|chromatin modification (GO:0016568)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			AAAGAGAGCTATTACCTATCA	0.373																																						ENST00000254803.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18						c.(1231-1233)Att>Gtt		UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)							75	81	79					4																	71555625		2203	4300	6503	SO:0001583	missense	57050				brain development|chromatin modification|gene silencing	nucleolus		g.chr4:71555625A>G	AL136590	CCDS3546.1	4q13.3	2008-02-05			ENSG00000132467	ENSG00000132467			24477	protein-coding gene	gene with protein product	"disrupter of silencing 10"	611614				12477932	Standard	NM_020368		Approved	FLJ23256, DKFZp761F222, SAS10, CRLZ1	uc003hfo.3	Q9NQZ2	OTTHUMG00000129911	ENST00000254803.2:c.1231A>G	4.37:g.71555625A>G	ENSP00000254803:p.Ile411Val						p.I411V	NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	Lung(101;0.235)		1	1430	+			411					Q6FI82	Missense_Mutation	SNP	ENST00000254803.2	37	c.1231A>G	CCDS3546.1	.	.	.	.	.	.	.	.	.	.	A	15.92	2.975609	0.53720	.	.	ENSG00000132467	ENST00000254803	T	0.45276	0.9	5.46	5.46	0.80206	Something about silencing protein 10 (Sas10), C-terminal (1);	0.052709	0.85682	D	0.000000	T	0.53594	0.1806	M	0.67953	2.075	0.48762	D	0.9997	D	0.55605	0.972	P	0.58577	0.841	T	0.53732	-0.8397	10	0.37606	T	0.19	-8.2243	8.511	0.33217	0.8848:0.0:0.1152:0.0	.	411	Q9NQZ2	SAS10_HUMAN	V	411	ENSP00000254803:I411V	ENSP00000254803:I411V	I	+	1	0	UTP3	71774489	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.232000	0.43018	2.191000	0.70037	0.533000	0.62120	ATT		0.373	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252163.2	NM_020368		49	55	0	0	0	1	0	49	55					G	71555625	A	G	71555625	3	3	335	1	0	0	0	0	1	0	0	0	17098	449	16	3	1233	3	UTP3	4	71555625	Missense_Mutation	SNP	A	TCGA-EM-A3OB-01A-11D-A21Z-08		71555625	119598651	3	7134											
ADAMTS3	9508	broad.mit.edu	37	chr4	73178108	73178108	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctctgaagtcctcaaagtgTttttggcattcttctgtgtt	9	8	4	1			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr4:73178108T>A	ENST00000286657.4	-	13	1857	c.1821A>T	c.(1819-1821)aaA>aaT	p.K607N		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	607					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCTCAAAGTGTTTTTGGCATT	0.423																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(1819-1821)aaA>aaT		ADAM metallopeptidase with thrombospondin type 1 motif, 3							183	157	166					4																	73178108		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73178108T>A	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"ADAM metallopeptidases with thrombospondin type 1 motif"	219	protein-coding gene	gene with protein product		605011	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.1821A>T	4.37:g.73178108T>A	ENSP00000286657:p.Lys607Asn						p.K607N	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		13	1857	-			607					A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.1821A>T	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	T	11.51	1.661415	0.29515	.	.	ENSG00000156140	ENST00000286657	T	0.68331	-0.32	5.98	-4.05	0.03998	.	0.000000	0.85682	D	0.000000	T	0.50820	0.1638	N	0.16478	0.41	0.45718	D	0.998629	P	0.45428	0.858	P	0.46452	0.517	T	0.50800	-0.8785	10	0.25106	T	0.35	.	15.8621	0.79032	0.0:0.69:0.0:0.31	.	607	O15072	ATS3_HUMAN	N	607	ENSP00000286657:K607N	ENSP00000286657:K607N	K	-	3	2	ADAMTS3	73396972	0.987000	0.35691	0.924000	0.36721	0.991000	0.79684	0.367000	0.20382	-0.562000	0.06086	-0.326000	0.08463	AAA		0.423	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			4	96	0	0	0	1	0	4	96					A	73178108	T	A	73178108	3	1	335	1	0	0	0	0	1	0	0	0	267	1722	60	5	1836	5	ADAMTS3	4	73178108	Missense_Mutation	SNP	T	TCGA-EM-A3OB-01A-11D-A21Z-08	1622483	73178108	117976168	4	7135											
PDE5A	8654	broad.mit.edu	37	chr4	120442128	120442128	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tagagcagcaaacatgcactGagctgtattaaaggcatgtc	10	8	0	2			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr4:120442128G>T	ENST00000354960.3	-	13	2186	c.1867C>A	c.(1867-1869)Cag>Aag	p.Q623K	RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000394439.1_Missense_Mutation_p.Q571K|PDE5A_ENST00000264805.5_Missense_Mutation_p.Q581K|PDE5A_ENST00000512739.1_5'Flank	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	623	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	AACATGCACTGAGCTGTATTA	0.333																																						ENST00000354960.3																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(1867-1869)Cag>Aag		phosphodiesterase 5A, cGMP-specific	Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)						134	136	136					4																	120442128		2202	4300	6502	SO:0001583	missense	8654				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	g.chr4:120442128G>T	D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"Phosphodiesterases"	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.1867C>A	4.37:g.120442128G>T	ENSP00000347046:p.Gln623Lys					PDE5A_ENST00000264805.5_Missense_Mutation_p.Q581K|PDE5A_ENST00000394439.1_Missense_Mutation_p.Q571K|RP11-33B1.1_ENST00000498873.1_RNA	p.Q623K	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN			13	2186	-			623			Catalytic (By similarity).		A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	ENST00000354960.3	37	c.1867C>A	CCDS3713.1	.	.	.	.	.	.	.	.	.	.	G	35	5.458570	0.96240	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	D;D;D	0.83506	-1.73;-1.73;-1.73	5.93	5.93	0.95920	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.052762	0.85682	D	0.000000	D	0.94981	0.8376	H	0.97516	4.02	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.973	D	0.95979	0.8976	10	0.87932	D	0	.	20.3368	0.98748	0.0:0.0:1.0:0.0	.	623;581	O76074;O76074-2	PDE5A_HUMAN;.	K	623;571;581	ENSP00000347046:Q623K;ENSP00000377957:Q571K;ENSP00000264805:Q581K	ENSP00000264805:Q581K	Q	-	1	0	PDE5A	120661576	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	9.869000	0.99810	2.805000	0.96524	0.655000	0.94253	CAG		0.333	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	NM_001083		5	227	1	0	1	1	1	5	227					T	120442128	G	T	120442128	3	4	335	1	0	0	0	0	1	0	0	0	11644	1299	45	4	796	4	PDE5A	4	120442128	Missense_Mutation	SNP	G	TCGA-EM-A3OB-01A-11D-A21Z-08	47264020	120442128	70712148	5	7136											
DNAH5	1767	broad.mit.edu	37	chr5	13788939	13788939	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taccaaacttactaaagcctTatcaaaccaggtcacatcac	3	13	3	0			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr5:13788939T>C	ENST00000265104.4	-	51	8637	c.8533A>G	c.(8533-8535)Aag>Gag	p.K2845E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2845					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACTAAAGCCTTATCAAACCAG	0.398									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(8533-8535)Aag>Gag		dynein, axonemal, heavy chain 5							125	118	120					5																	13788939		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13788939T>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.8533A>G	5.37:g.13788939T>C	ENSP00000265104:p.Lys2845Glu						p.K2845E	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			51	8637	-	Lung NSC(4;0.00476)		2845					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.8533A>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	8.902	0.956523	0.18507	.	.	ENSG00000039139	ENST00000265104	T	0.38240	1.15	6.06	3.59	0.41128	.	0.443861	0.25994	N	0.026994	T	0.22704	0.0548	L	0.39020	1.185	0.18873	N	0.999987	B	0.02656	0.0	B	0.06405	0.002	T	0.19095	-1.0316	10	0.12766	T	0.61	.	6.385	0.21556	0.1444:0.143:0.0:0.7125	.	2845	Q8TE73	DYH5_HUMAN	E	2845	ENSP00000265104:K2845E	ENSP00000265104:K2845E	K	-	1	0	DNAH5	13841939	0.003000	0.15002	1.000000	0.80357	0.998000	0.95712	-0.033000	0.12246	1.126000	0.42016	0.533000	0.62120	AAG		0.398	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		3	141	0	0	0	1	0	3	141					C	13788939	T	C	13788939	3	2	335	1	0	0	0	0	1	0	0	0	4604	1763	61	3	5457	3	DNAH5	5	13788939	Missense_Mutation	SNP	T	TCGA-EM-A3OB-01A-11D-A21Z-08		13788939	167126321	6	7137											
PCDHA6	56142	broad.mit.edu	37	chr5	140209347	140209347	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggtgttcgtgctggaCgagaacgacaacgcgccggc	15	12	0	1			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr5:140209347C>T	ENST00000529310.1	+	1	1785	c.1671C>T	c.(1669-1671)gaC>gaT	p.D557D	PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	557	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTGCTGGACGAGAACGACA	0.687																																						ENST00000529310.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1669-1671)gaC>gaT									69	76	73					5																	140209347		2202	4299	6501	SO:0001819	synonymous_variant	0							g.chr5:140209347C>T	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	8672	other	complex locus constituent	"KIAA0345-like 8"	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1671C>T	5.37:g.140209347C>T						PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron	p.D557D	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1785	+								O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.1671C>T	CCDS47281.1																																																																																				0.687	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		4	133	0	0	0	1	0	4	133					T	140209347	C	T	140209347	2	4	335	1	0	0	0	0	0	0	0	1	11528	535	19	1		1	PCDHA6	5	140209347	Silent	SNP	C	TCGA-EM-A3OB-01A-11D-A21Z-08	126420408	140209347	40705913	7	7138											
LANCL2	55915	broad.mit.edu	37	chr7	55479606	55479606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtttgtttaaagccggcaGcaaaagtggaccaagaaacc	10	8	0	1			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr7:55479606G>A	ENST00000254770.2	+	6	1410	c.832G>A	c.(832-834)Gca>Aca	p.A278T		NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	278					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of abscisic acid-activated signaling pathway (GO:0009789)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|GTP binding (GO:0005525)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			AAAGCCGGCAGCAAAAGTGGA	0.348																																						ENST00000254770.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25						c.(832-834)Gca>Aca		LanC lantibiotic synthetase component C-like 2 (bacterial)							56	61	59					7																	55479606		2203	4300	6503	SO:0001583	missense	55915				negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding	g.chr7:55479606G>A	AJ278245	CCDS5517.1	7q31.1-q31.33	2008-07-18	2001-12-04		ENSG00000132434	ENSG00000132434			6509	protein-coding gene	gene with protein product	"testis-specific adriamycin sensitivity protein", "G protein-coupled receptor 69B"	612919	"LanC (bacterial lantibiotic synthetase component C)-like 2"	GPR69B		11762191	Standard	NM_018697		Approved	TASP	uc003tqp.3	Q9NS86	OTTHUMG00000023779	ENST00000254770.2:c.832G>A	7.37:g.55479606G>A	ENSP00000254770:p.Ala278Thr						p.A278T	NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)		6	1410	+	Breast(14;0.0379)		278					B2R8D4|Q6NSL4|Q8TCQ3|Q9BSR1	Missense_Mutation	SNP	ENST00000254770.2	37	c.832G>A	CCDS5517.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.330127	0.41297	.	.	ENSG00000132434	ENST00000254770	T	0.42513	0.97	5.81	4.86	0.63082	Six-hairpin glycosidase-like (1);	0.162599	0.56097	D	0.000040	T	0.33265	0.0857	L	0.39397	1.21	0.54753	D	0.999989	B	0.16802	0.019	B	0.26614	0.071	T	0.07083	-1.0791	10	0.09843	T	0.71	.	13.18	0.59649	0.0:0.0:0.7554:0.2446	.	278	Q9NS86	LANC2_HUMAN	T	278	ENSP00000254770:A278T	ENSP00000254770:A278T	A	+	1	0	LANCL2	55447100	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.644000	0.54381	2.734000	0.93682	0.650000	0.86243	GCA		0.348	LANCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251459.1	NM_018697		3	93	0	0	0	1	0	3	93					A	55479606	G	A	55479606	3	1	335	1	0	0	0	0	1	0	0	0	8621	971	34	2	854	2	LANCL2	7	55479606	Missense_Mutation	SNP	G	TCGA-EM-A3OB-01A-11D-A21Z-08		55479606	103659057	8	7139											
HAUS6	54801	broad.mit.edu	37	chr9	19058159	19058159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtttgtacattttggggaGtagggctcaattctggtttg	13	5	2	0			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr9:19058159G>A	ENST00000380502.3	-	16	3073	c.2606C>T	c.(2605-2607)aCt>aTt	p.T869I	HAUS6_ENST00000380496.1_Missense_Mutation_p.T733I	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	869					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATTTTGGGGAGTAGGGCTCAA	0.423																																						ENST00000380502.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2605-2607)aCt>aTt		HAUS augmin-like complex, subunit 6							198	193	195					9																	19058159		2203	4300	6503	SO:0001583	missense	54801				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		g.chr9:19058159G>A	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"HAUS augmin-like complex subunits"	25948	protein-coding gene	gene with protein product		613433	"family with sequence similarity 29, member A"	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.2606C>T	9.37:g.19058159G>A	ENSP00000369871:p.Thr869Ile					HAUS6_ENST00000380496.1_Missense_Mutation_p.T733I	p.T869I	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN			16	3073	-			869					B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	c.2606C>T	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	G	4.332	0.060946	0.08339	.	.	ENSG00000147874	ENST00000380502;ENST00000380496	T;T	0.27890	1.64;1.65	5.8	3.54	0.40534	.	0.762218	0.12580	N	0.456489	T	0.21509	0.0518	L	0.31664	0.95	0.09310	N	1	P;P;P	0.49358	0.923;0.923;0.923	B;B;B	0.42087	0.375;0.375;0.375	T	0.06534	-1.0821	10	0.32370	T	0.25	0.0217	6.4407	0.21849	0.189:0.0:0.6736:0.1374	.	834;733;869	Q7Z4H7-3;Q5VY60;Q7Z4H7	.;.;HAUS6_HUMAN	I	869;733	ENSP00000369871:T869I;ENSP00000369865:T733I	ENSP00000369865:T733I	T	-	2	0	HAUS6	19048159	0.000000	0.05858	0.003000	0.11579	0.196000	0.23810	0.389000	0.20751	0.518000	0.28383	0.467000	0.42956	ACT		0.423	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		4	228	0	0	0	1	0	4	228					A	19058159	G	A	19058159	3	1	335	1	0	0	0	0	1	0	0	0	6970	1029	36	2	269	2	HAUS6	9	19058159	Missense_Mutation	SNP	G	TCGA-EM-A3OB-01A-11D-A21Z-08		19058159	122155272	9	7140											
C5	727	broad.mit.edu	37	chr9	123725972	123725972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaggagatgtccatcaccGcatgagaggatccagatgat	12	9	1	4			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr9:123725972G>A	ENST00000223642.1	-	34	4294	c.4265C>T	c.(4264-4266)gCg>gTg	p.A1422V		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1422					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	GTCCATCACCGCATGAGAGGA	0.358																																						ENST00000223642.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(4264-4266)gCg>gTg		complement component 5	Eculizumab(DB01257)						79	75	76					9																	123725972		2203	4300	6503	SO:0001583	missense	727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123725972G>A	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"Complement system", "Endogenous ligands"	1331	protein-coding gene	gene with protein product	"prepro-C5", "C5a anaphylatoxin"	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.4265C>T	9.37:g.123725972G>A	ENSP00000223642:p.Ala1422Val						p.A1422V	NM_001735.2	NP_001726.2	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	34	4294	-			1422					Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	c.4265C>T	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.844586	0.51164	.	.	ENSG00000106804	ENST00000223642	T	0.29142	1.58	5.33	4.43	0.53597	Alpha-macroglobulin, receptor-binding (3);	0.408843	0.29253	N	0.012695	T	0.24236	0.0587	L	0.42632	1.34	0.36848	D	0.887737	P	0.46784	0.884	B	0.38156	0.266	T	0.21484	-1.0244	10	0.54805	T	0.06	.	9.8198	0.40876	0.0945:0.0:0.9055:0.0	.	1422	P01031	CO5_HUMAN	V	1422	ENSP00000223642:A1422V	ENSP00000223642:A1422V	A	-	2	0	C5	122765793	0.999000	0.42202	0.997000	0.53966	0.994000	0.84299	3.301000	0.51842	1.254000	0.44035	0.655000	0.94253	GCG		0.358	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		3	79	0	0	0	1	0	3	79					A	123725972	G	A	123725972	3	1	335	1	0	0	0	0	1	0	0	0	2280	1087	38	1	797	1	C5	9	123725972	Missense_Mutation	SNP	G	TCGA-EM-A3OB-01A-11D-A21Z-08	104667813	123725972	17487459	10	7141											
ANXA7	310	broad.mit.edu	37	chr10	75156277	75156277	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaaggtaggaacaaaatacCtgactagggtaagtaggttg	12	4	0	1			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr10:75156277C>A	ENST00000372921.5	-	5	491	c.435G>T	c.(433-435)caG>caT	p.Q145H	ANXA7_ENST00000535178.1_Splice_Site_p.Q15H|ANXA7_ENST00000492380.1_5'UTR	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	145					autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular calcium ion homeostasis (GO:0006874)|cellular water homeostasis (GO:0009992)|epithelial cell differentiation (GO:0030855)|hemostasis (GO:0007599)|membrane fusion (GO:0061025)|negative regulation of gene expression (GO:0010629)|regulation of cell shape (GO:0008360)|response to calcium ion (GO:0051592)|response to organic cyclic compound (GO:0014070)|response to salt stress (GO:0009651)|social behavior (GO:0035176)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|integrin binding (GO:0005178)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					AACAAAATACCTGACTAGGGT	0.418																																						ENST00000372921.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26						c.e5+1		annexin A7							69	66	67					10																	75156277		2203	4300	6503	SO:0001630	splice_region_variant	310						calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding	g.chr10:75156277C>A	J04543	CCDS7325.1, CCDS7326.1	10q22.2	2005-11-09			ENSG00000138279	ENSG00000138279		"Annexins"	545	protein-coding gene	gene with protein product		186360		ANX7		7515686	Standard	NM_001156		Approved		uc001jtz.2	P20073	OTTHUMG00000018463	ENST00000372921.5:c.435+1G>T	10.37:g.75156277C>A						ANXA7_ENST00000535178.1_Splice_Site_p.Q15_splice|ANXA7_ENST00000492380.1_5'UTR	p.Q145_splice	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN			5	491	-	Prostate(51;0.0119)		145					Q5F2H3|Q5T0M6|Q5T0M7	Splice_Site	SNP	ENST00000372921.5	37	c.435_splice	CCDS7325.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.903893	0.52333	.	.	ENSG00000138279	ENST00000372921;ENST00000372919;ENST00000535178	T;T;T	0.04862	3.54;4.42;3.54	5.48	4.57	0.56435	.	2.499150	0.01058	N	0.004597	T	0.12263	0.0298	N	0.08118	0	0.25069	N	0.991005	D;D;D;D;D	0.76494	0.997;0.997;0.98;0.996;0.999	P;P;P;D;D	0.69142	0.878;0.825;0.73;0.937;0.962	T	0.48636	-0.9018	9	.	.	.	.	10.4031	0.44241	0.0:0.9094:0.0:0.0906	.	145;145;72;145;145	Q53HM8;B2R7L2;B4DWU2;P20073-2;P20073	.;.;.;.;ANXA7_HUMAN	H	145;145;15	ENSP00000362012:Q145H;ENSP00000362010:Q145H;ENSP00000442864:Q15H	.	Q	-	3	2	ANXA7	74826283	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.505000	0.53356	1.439000	0.47511	0.650000	0.86243	CAG		0.418	ANXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048646.2	NM_001156	Missense_Mutation	3	62	1	0	1	1	1	3	62					A	75156277	C	A	75156277	5	1	335	1	0	0	0	0	0	0	1	0	723	695	24	4	1071	4	ANXA7	10	75156277	Splice_Site	SNP	C	TCGA-EM-A3OB-01A-11D-A21Z-08		75156277	60378470	11	7142											
TSG101	7251	broad.mit.edu	37	chr11	18505466	18505466	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccagtttctggtgacccTttttcaggtcttcttctgtt	7	11	5	1			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr11:18505466T>C	ENST00000251968.3	-	8	1209	c.794A>G	c.(793-795)aAg>aGg	p.K265R	TSG101_ENST00000357193.3_Missense_Mutation_p.K160R|TSG101_ENST00000536719.1_Missense_Mutation_p.K265R	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	265					cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						CTGGTGACCCTTTTTCAGGTC	0.438																																					GBM(99;1348 1396 8611 26475 50572)	ENST00000536719.1																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(793-795)aAg>aGg		tumor susceptibility 101							262	254	257					11																	18505466		2199	4293	6492	SO:0001583	missense	7251				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr11:18505466T>C	U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"tumor susceptibility gene 10", "tumor susceptibility gene 101"	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.794A>G	11.37:g.18505466T>C	ENSP00000251968:p.Lys265Arg					TSG101_ENST00000251968.3_Missense_Mutation_p.K265R|TSG101_ENST00000357193.3_Missense_Mutation_p.K160R	p.K265R			Q99816	TS101_HUMAN			8	928	-			265					Q9BUM5	Missense_Mutation	SNP	ENST00000251968.3	37	c.794A>G	CCDS7842.1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.030954	0.54790	.	.	ENSG00000074319	ENST00000536719;ENST00000251968;ENST00000357193	T;T;T	0.52983	0.64;0.64;0.64	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.38957	0.1060	L	0.41710	1.295	0.54753	D	0.999982	B	0.06786	0.001	B	0.06405	0.002	T	0.18903	-1.0322	10	0.19147	T	0.46	-23.3487	14.3285	0.66537	0.0:0.0:0.0:1.0	.	265	Q99816	TS101_HUMAN	R	265;265;160	ENSP00000438471:K265R;ENSP00000251968:K265R;ENSP00000349721:K160R	ENSP00000251968:K265R	K	-	2	0	TSG101	18462042	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.375000	0.79646	2.125000	0.65367	0.459000	0.35465	AAG		0.438	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1	NM_006292		4	428	0	0	0	1	0	4	428					C	18505466	T	C	18505466	3	2	335	1	0	0	0	0	1	0	0	0	16613	1609	56	3	390	3	TSG101	11	18505466	Missense_Mutation	SNP	T	TCGA-EM-A3OB-01A-11D-A21Z-08		18505466	116501050	12	7143											
AMDHD1	144193	broad.mit.edu	37	chr12	96354366	96354366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagggttacagattaacttcCatggggatgaactccacccg	10	10	0	2			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr12:96354366C>T	ENST00000266736.2	+	5	884	c.778C>T	c.(778-780)Cat>Tat	p.H260Y		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	260					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						GATTAACTTCCATGGGGATGA	0.423																																						ENST00000266736.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						c.(778-780)Cat>Tat		amidohydrolase domain containing 1							104	101	102					12																	96354366		2203	4300	6503	SO:0001583	missense	144193				histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding	g.chr12:96354366C>T	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.778C>T	12.37:g.96354366C>T	ENSP00000266736:p.His260Tyr						p.H260Y	NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN			5	884	+			260					A8K463|Q68CI8	Missense_Mutation	SNP	ENST00000266736.2	37	c.778C>T	CCDS9057.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644972	0.87859	.	.	ENSG00000139344	ENST00000266736	D	0.83591	-1.74	5.55	5.55	0.83447	Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.95242	0.8457	H	0.98487	4.245	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96698	0.9516	10	0.87932	D	0	-2.0925	19.8741	0.96863	0.0:1.0:0.0:0.0	.	260	Q96NU7	HUTI_HUMAN	Y	260	ENSP00000266736:H260Y	ENSP00000266736:H260Y	H	+	1	0	AMDHD1	94878497	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	7.166000	0.77553	2.761000	0.94854	0.655000	0.94253	CAT		0.423	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435		11	125	0	0	0	1	0	11	125					T	96354366	C	T	96354366	3	4	335	1	0	0	0	0	1	0	0	0	567	594	21	2	796	2	AMDHD1	12	96354366	Missense_Mutation	SNP	C	TCGA-EM-A3OB-01A-11D-A21Z-08		96354366	37497529	13	7144											
IQGAP1	8826	broad.mit.edu	37	chr15	91016984	91016984	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagcagaagaaggcatatcAagatcggttagcttacctgc	10	9	1	3			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr15:91016984A>G	ENST00000268182.5	+	20	2511	c.2387A>G	c.(2386-2388)cAa>cGa	p.Q796R	IQGAP1_ENST00000560738.1_Missense_Mutation_p.Q224R	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	796	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAGGCATATCAAGATCGGTTA	0.423																																						ENST00000268182.5																			0				breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(2386-2388)cAa>cGa		IQ motif containing GTPase activating protein 1							91	81	84					15																	91016984		2198	4298	6496	SO:0001583	missense	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91016984A>G	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"RasGAP-like with IQ motifs"	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.2387A>G	15.37:g.91016984A>G	ENSP00000268182:p.Gln796Arg					IQGAP1_ENST00000560738.1_Missense_Mutation_p.Q224R	p.Q796R	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		20	2511	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		796			IQ 2.		A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	c.2387A>G	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	A	10.51	1.369565	0.24771	.	.	ENSG00000140575	ENST00000268182	T	0.22134	1.97	5.73	5.73	0.89815	.	0.204155	0.42682	D	0.000670	T	0.14830	0.0358	N	0.20685	0.6	0.36182	D	0.849509	B	0.09022	0.002	B	0.11329	0.006	T	0.17167	-1.0378	10	0.16896	T	0.51	-18.9001	15.4929	0.75624	1.0:0.0:0.0:0.0	.	796	P46940	IQGA1_HUMAN	R	796	ENSP00000268182:Q796R	ENSP00000268182:Q796R	Q	+	2	0	IQGAP1	88817988	1.000000	0.71417	0.986000	0.45419	0.977000	0.68977	5.967000	0.70403	2.308000	0.77769	0.533000	0.62120	CAA		0.423	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		3	56	0	0	0	1	0	3	56					G	91016984	A	G	91016984	3	3	335	1	0	0	0	0	1	0	0	0	7814	130	5	3	2465	3	IQGAP1	15	91016984	Missense_Mutation	SNP	A	TCGA-EM-A3OB-01A-11D-A21Z-08		91016984	11514408	14	7145											
SRCAP	10847	broad.mit.edu	37	chr16	30749945	30749945	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgaaacgtcggagggggAggccccccaagaagaacagg	16	10	0	3			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr16:30749945A>G	ENST00000262518.4	+	34	8969	c.8584A>G	c.(8584-8586)Agg>Ggg	p.R2862G	SRCAP_ENST00000395059.2_Missense_Mutation_p.R2800G|SRCAP_ENST00000344771.4_Missense_Mutation_p.R2704G|RP11-2C24.4_ENST00000483578.1_lincRNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2862	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCGGAGGGGGAGGCCCCCCAA	0.612																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(8584-8586)Agg>Ggg		Snf2-related CREBBP activator protein							45	45	45					16																	30749945		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30749945A>G	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.8584A>G	16.37:g.30749945A>G	ENSP00000262518:p.Arg2862Gly					SRCAP_ENST00000395059.2_Missense_Mutation_p.R2800G|SRCAP_ENST00000344771.4_Missense_Mutation_p.R2704G	p.R2862G	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		34	8969	+			2862			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.8584A>G	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	A	9.773	1.173268	0.21704	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.96651	-4.06;-4.08;-4.08	4.97	3.85	0.44370	AT hook, DNA-binding motif (1);	0.000000	0.52532	D	0.000079	D	0.92551	0.7634	N	0.08118	0	0.26771	N	0.969807	D;D	0.56968	0.978;0.963	P;P	0.53861	0.736;0.549	D	0.86750	0.1960	10	0.87932	D	0	-10.269	8.716	0.34411	0.7299:0.2701:0.0:0.0	.	2800;2862	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	G	2862;2800;2704	ENSP00000262518:R2862G;ENSP00000378499:R2800G;ENSP00000343042:R2704G	ENSP00000262518:R2862G	R	+	1	2	SRCAP	30657446	0.232000	0.23762	1.000000	0.80357	0.985000	0.73830	0.258000	0.18387	2.098000	0.63641	0.482000	0.46254	AGG		0.612	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		3	57	0	0	0	1	0	3	57					G	30749945	A	G	30749945	3	3	335	1	0	0	0	0	1	0	0	0	15134	295	11	3	8710	3	SRCAP	16	30749945	Missense_Mutation	SNP	A	TCGA-EM-A3OB-01A-11D-A21Z-08		30749945	59604808	15	7146											
WRAP53	55135	broad.mit.edu	37	chr17	7604998	7604998	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgacggcagcccattcGctctgcttctccccggatgg	12	15	2	1	rs34740153		TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr17:7604998G>A	ENST00000316024.5	+	6	3194	c.846G>A	c.(844-846)tcG>tcA	p.S282S	WRAP53_ENST00000396463.2_Silent_p.S282S|WRAP53_ENST00000534050.1_Silent_p.S249S|WRAP53_ENST00000431639.2_Silent_p.S282S|WRAP53_ENST00000457584.2_Silent_p.S282S			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	282					positive regulation of telomerase activity (GO:0051973)|telomere formation via telomerase (GO:0032203)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						CAGCCCATTCGCTCTGCTTCT	0.622																																						ENST00000316024.5																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						c.(844-846)tcG>tcA		WD repeat containing, antisense to TP53		G	,,,	1,4405	4.2+/-10.8	0,1,2202	92	83	86		846,846,846,846	-8.8	1.0	17	dbSNP_126	86	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	WRAP53	NM_001143990.1,NM_001143991.1,NM_001143992.1,NM_018081.2	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	282/549,282/549,282/549,282/549	7604998	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55135				positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding	g.chr17:7604998G>A	AK001247, DQ431240	CCDS11119.1	17p13.1	2014-09-17	2009-02-16	2009-02-16	ENSG00000141499	ENSG00000141499		"WD repeat domain containing"	25522	protein-coding gene	gene with protein product	"telomerase cajal body protein 1", "WD-encoding RNA antisense to p53"	612661	"WD repeat domain 79"	WDR79		19179534, 19250907, 19571673, 19342896, 20494116, 21441950	Standard	NM_018081		Approved	FLJ10385, TCAB1	uc010vuh.2	Q9BUR4	OTTHUMG00000134323	ENST00000316024.5:c.846G>A	17.37:g.7604998G>A						WRAP53_ENST00000396463.2_Silent_p.S282S|WRAP53_ENST00000431639.2_Silent_p.S282S|WRAP53_ENST00000457584.2_Silent_p.S282S|WRAP53_ENST00000534050.1_Silent_p.S249S	p.S282S			Q9BUR4	WAP53_HUMAN			6	3194	+			282					B3KPR9|D3DTQ4|Q08ET9|Q9NW09	Silent	SNP	ENST00000316024.5	37	c.846G>A	CCDS11119.1																																																																																				0.622	WRAP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259385.2	NM_018081		24	28	0	0	0	1	0	24	28					A	7604998	G	A	7604998	2	1	335	1	0	0	0	0	0	0	0	1	17397	1074	38	1		1	WRAP53	17	7604998	Silent	SNP	G	TCGA-EM-A3OB-01A-11D-A21Z-08		7604998	73590212	16	7147											
MYO15A	51168	broad.mit.edu	37	chr17	18023164	18023164	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatccctatgcgccgtacgaCgcgccatacccaccctatga	8	17	0	1			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr17:18023164C>T	ENST00000205890.5	+	2	1388	c.1050C>T	c.(1048-1050)gaC>gaT	p.D350D		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	350					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGCCGTACGACGCGCCATACC	0.607																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(1048-1050)gaC>gaT		myosin XVA							82	93	89					17																	18023164		2034	4177	6211	SO:0001819	synonymous_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18023164C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.1050C>T	17.37:g.18023164C>T							p.D350D	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	1388	+	all_neural(463;0.228)		350			Myosin head-like.		B4DFC7	Silent	SNP	ENST00000205890.5	37	c.1050C>T	CCDS42271.1																																																																																				0.607	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		10	180	0	0	0	1	0	10	180					T	18023164	C	T	18023164	2	4	335	1	0	0	0	0	0	0	0	1	10063	535	19	1		1	MYO15A	17	18023164	Silent	SNP	C	TCGA-EM-A3OB-01A-11D-A21Z-08	10418166	18023164	63172046	17	7148											
CDC27	996	broad.mit.edu	37	chr17	45219305	45219305	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgagaaggtagatggcTcaaaatatttatagcttctt	11	4	2	2			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr17:45219305T>C	ENST00000066544.3	-	12	1558	c.1465A>G	c.(1465-1467)Agc>Ggc	p.S489G	CDC27_ENST00000527547.1_Missense_Mutation_p.S488G|CDC27_ENST00000531206.1_Missense_Mutation_p.S495G|CDC27_ENST00000446365.2_Missense_Mutation_p.S428G	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	489					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GGTAGATGGCTCAAAATATTT	0.378																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1465-1467)Agc>Ggc		cell division cycle 27							112	119	117					17																	45219305		2203	4299	6502	SO:0001583	missense	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219305T>C	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1465A>G	17.37:g.45219305T>C	ENSP00000066544:p.Ser489Gly					CDC27_ENST00000531206.1_Missense_Mutation_p.S495G|CDC27_ENST00000446365.2_Missense_Mutation_p.S428G|CDC27_ENST00000527547.1_Missense_Mutation_p.S488G	p.S489G	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			12	1558	-			489					G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	c.1465A>G	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	T	15.84	2.953293	0.53293	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	5.92	5.92	0.95590	Tetratricopeptide-like helical (1);	0.076017	0.85682	D	0.000000	T	0.65491	0.2696	L	0.35487	1.065	0.54753	D	0.999982	B;B;B;B	0.21071	0.03;0.051;0.051;0.014	B;B;B;B	0.16289	0.01;0.015;0.015;0.007	T	0.62191	-0.6906	10	0.49607	T	0.09	-6.7464	14.3157	0.66450	0.0:0.0:0.0:1.0	.	428;488;495;489	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	G	489;495;428;488	ENSP00000066544:S489G;ENSP00000434614:S495G;ENSP00000392802:S428G;ENSP00000437339:S488G	ENSP00000066544:S489G	S	-	1	0	CDC27	42574304	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.951000	0.63610	2.267000	0.75376	0.528000	0.53228	AGC		0.378	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			10	421	0	0	0	1	0	10	421					C	45219305	T	C	45219305	3	2	335	1	0	0	0	0	1	0	0	0	3066	1551	54	3	1041	3	CDC27	17	45219305	Missense_Mutation	SNP	T	TCGA-EM-A3OB-01A-11D-A21Z-08	27196141	45219305	35975905	18	7149											
OTOP3	347741	broad.mit.edu	37	chr17	72945406	72945406	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggctagaaaaggatttctaCggctaccagatatggttcgc	12	8	1	2	rs562755377		TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr17:72945406C>A	ENST00000328801.4	+	7	1686	c.1686C>A	c.(1684-1686)taC>taA	p.Y562*		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	562						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					AGGATTTCTACGGCTACCAGA	0.567																																						ENST00000328801.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1684-1686)taC>taA		otopetrin 3							84	80	81					17																	72945406		2203	4300	6503	SO:0001587	stop_gained	347741					integral to membrane|intracellular	zinc ion binding	g.chr17:72945406C>A	BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.1686C>A	17.37:g.72945406C>A	ENSP00000328090:p.Tyr562*						p.Y562*	NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN			7	1686	+	all_lung(278;0.151)|Lung NSC(278;0.185)		562						Nonsense_Mutation	SNP	ENST00000328801.4	37	c.1686C>A	CCDS11709.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.774400	0.90108	.	.	ENSG00000182938	ENST00000328801	.	.	.	4.28	-2.74	0.05932	.	0.086498	0.48767	D	0.000165	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.9095	12.3382	0.55079	0.0:0.5365:0.0:0.4635	.	.	.	.	X	562	.	ENSP00000328090:Y562X	Y	+	3	2	OTOP3	70457001	0.020000	0.18652	0.991000	0.47740	0.900000	0.52787	-0.763000	0.04740	-0.576000	0.05974	0.313000	0.20887	TAC		0.567	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445308.1	NM_178233		3	125	1	0	0.000602214	1	0.000673063	3	125					A	72945406	C	A	72945406	4	1	335	1	0	0	0	0	0	1	0	0	11307	547	19	4	1712	4	OTOP3	17	72945406	Nonsense_Mutation	SNP	C	TCGA-EM-A3OB-01A-11D-A21Z-08	27726101	72945406	8249804	19	7150											
MYOM1	8736	broad.mit.edu	37	chr18	3187546	3187546	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acattctccttctcccaaacCgtgtgggagcgaggtttaat	9	11	2	0			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr18:3187546C>A	ENST00000356443.4	-	5	1194	c.861G>T	c.(859-861)acG>acT	p.T287T	MYOM1_ENST00000400569.3_Silent_p.T287T|RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000261606.7_Silent_p.T287T	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	287	Ig-like C2-type 1.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCTCCCAAACCGTGTGGGAGC	0.428																																						ENST00000356443.4																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(859-861)acG>acT		myomesin 1							138	132	134					18																	3187546		1972	4149	6121	SO:0001819	synonymous_variant	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3187546C>A	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.861G>T	18.37:g.3187546C>A						MYOM1_ENST00000261606.7_Silent_p.T287T|MYOM1_ENST00000400569.3_Silent_p.T287T	p.T287T	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN			5	1194	-			287			Ig-like C2-type 1.		Q14BD6|Q6H969|Q6ZUU0	Silent	SNP	ENST00000356443.4	37	c.861G>T	CCDS45824.1																																																																																				0.428	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		5	127	1	0	0.014758	1	0.0155779	5	127					A	3187546	C	A	3187546	2	1	335	1	0	0	0	0	0	0	0	1	10091	639	23	4		4	MYOM1	18	3187546	Silent	SNP	C	TCGA-EM-A3OB-01A-11D-A21Z-08		3187546	74889702	20	7151											
COL5A3	50509	broad.mit.edu	37	chr19	10114264	10114264	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttctctgcggagtcaggagGtggacttgaggtccaaattt	14	7	2	1			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr19:10114264G>T	ENST00000264828.3	-	6	911	c.826C>A	c.(826-828)Cct>Act	p.P276T		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	276	Nonhelical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GAGTCAGGAGGTGGACTTGAG	0.557											OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(826-828)Cct>Act		collagen, type V, alpha 3							247	187	207					19																	10114264		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10114264G>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.826C>A	19.37:g.10114264G>T	ENSP00000264828:p.Pro276Thr		OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	662		p.P276T	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		6	911	-			276			Nonhelical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.826C>A	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	G	6.728	0.503062	0.12822	.	.	ENSG00000080573	ENST00000264828	D	0.88818	-2.43	3.86	-1.9	0.07665	.	3.506420	0.00827	N	0.001625	T	0.75140	0.3809	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.65792	-0.6082	10	0.12430	T	0.62	.	5.7308	0.18038	0.1046:0.0:0.3522:0.5432	.	276	P25940	CO5A3_HUMAN	T	276	ENSP00000264828:P276T	ENSP00000264828:P276T	P	-	1	0	COL5A3	9975264	0.002000	0.14202	0.002000	0.10522	0.366000	0.29705	-0.344000	0.07780	-0.332000	0.08489	0.456000	0.33151	CCT		0.557	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		8	107	1	0	4.68919e-08	1	5.56841e-08	8	107					T	10114264	G	T	10114264	3	4	335	1	0	0	0	0	1	0	0	0	3698	1261	44	4	4659	4	COL5A3	19	10114264	Missense_Mutation	SNP	G	TCGA-EM-A3OB-01A-11D-A21Z-08		10114264	49014719	21	7152											
DEFB119	245932	broad.mit.edu	37	chr20	29976952	29976952	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgactaggaacacagcacCgtttacgatttcggcagcgt	10	11	0	0	rs372464953		TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr20:29976952C>T	ENST00000376321.3	-	1	181				DEFB119_ENST00000376315.2_Missense_Mutation_p.R48Q|DEFB119_ENST00000339144.3_Intron|DEFB119_ENST00000492344.1_Intron	NM_153289.3	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119						defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AACACAGCACCGTTTACGATT	0.458																																						ENST00000376315.2																			0				large_intestine(2)|lung(1)|prostate(1)	4						c.(142-144)cGg>cAg		defensin, beta 119		C	,GLN/ARG,	1,4405	2.1+/-5.4	0,1,2202	203	174	184		,143,	2.5	0.4	20		184	0,8600		0,0,4300	no	intron,missense,intron	DEFB119	NM_153289.2,NM_153323.3,NM_173460.1	,43,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	,48/89,	29976952	1,13005	2203	4300	6503	SO:0001627	intron_variant	245932				defense response to bacterium	extracellular region		g.chr20:29976952C>T	AA939044	CCDS13178.1, CCDS33455.1	20q11.21	2007-02-19	2003-10-06		ENSG00000180483	ENSG00000180483		"Defensins, beta"	18099	protein-coding gene	gene with protein product			"defensin, beta 120"	DEFB120		11854508	Standard	NM_153289		Approved	DEFB-19, DEFB-20	uc002wvu.2	Q8N690	OTTHUMG00000032172	ENST00000376321.3:c.61+1273G>A	20.37:g.29976952C>T						DEFB119_ENST00000376321.3_Intron|DEFB119_ENST00000492344.1_Intron|DEFB119_ENST00000339144.3_Intron	p.R48Q	NM_001271209.1|NM_153323.4	NP_001258138.1|NP_697018.1	Q8N690	DB119_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	142	-	all_hematologic(12;0.158)		54					Q5GRG1|Q5JWP1|Q5TH42|Q8N689	Missense_Mutation	SNP	ENST00000376321.3	37	c.143G>A	CCDS13178.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.709823	0.89018	2.27E-4	0.0	ENSG00000180483	ENST00000376315	T	0.11495	2.77	3.49	2.53	0.30540	.	1.825100	0.03092	N	0.159957	T	0.19725	0.0474	.	.	.	0.09310	N	0.999999	D	0.69078	0.997	P	0.52309	0.695	T	0.11421	-1.0588	9	0.87932	D	0	-4.3313	6.1	0.20041	0.0:0.8559:0.0:0.1441	.	48	Q8N690-2	.	Q	48	ENSP00000365492:R48Q	ENSP00000365492:R48Q	R	-	2	0	DEFB119	29440613	0.624000	0.27102	0.436000	0.26797	0.980000	0.70556	1.484000	0.35508	1.024000	0.39682	0.563000	0.77884	CGG		0.458	DEFB119-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078514.1	NM_153289		3	151	0	0	0	1	0	3	151					T	29976952	C	T	29976952	1	4	335	0	1	0	0	0	0	0	0	0	4407	652	23	1		1	DEFB119	20	29976952	Intron	SNP	C	TCGA-EM-A3OB-01A-11D-A21Z-08		29976952	33048568	22	7153											
ZNFX1	57169	broad.mit.edu	37	chr20	47865945	47865945	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagaaaacccaccttgcCttcttggttgctccgcacta	7	15	1	1			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr20:47865945C>G	ENST00000396105.1	-	14	3862	c.3616G>C	c.(3616-3618)Ggc>Cgc	p.G1206R	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.G1206R	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1206							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCCACCTTGCCTTCTTGGTTG	0.522																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(3616-3618)Ggc>Cgc		zinc finger, NFX1-type containing 1							172	153	159					20																	47865945		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47865945C>G	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.3616G>C	20.37:g.47865945C>G	ENSP00000379412:p.Gly1206Arg					ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.G1206R	p.G1206R	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		14	3862	-			1206					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.3616G>C	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.495035	0.44352	.	.	ENSG00000124201	ENST00000371752;ENST00000396105	D;D	0.82433	-1.61;-1.61	6.03	6.03	0.97812	.	0.117723	0.64402	D	0.000020	T	0.79907	0.4527	L	0.42529	1.33	0.58432	D	0.999998	B	0.29508	0.246	B	0.33254	0.16	T	0.73836	-0.3857	10	0.18276	T	0.48	-23.7063	19.1207	0.93362	0.0:1.0:0.0:0.0	.	1206	Q9P2E3	ZNFX1_HUMAN	R	1206	ENSP00000360817:G1206R;ENSP00000379412:G1206R	ENSP00000360817:G1206R	G	-	1	0	ZNFX1	47299352	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.864000	0.62990	2.861000	0.98227	0.655000	0.94253	GGC		0.522	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		4	205	0	0	0	1	0	4	205					G	47865945	C	G	47865945	3	3	335	1	0	0	0	0	1	0	0	0	18202	681	24	4	2144	4	ZNFX1	20	47865945	Missense_Mutation	SNP	C	TCGA-EM-A3OB-01A-11D-A21Z-08	17888993	47865945	15159575	23	7154											
IQSEC2	23096	broad.mit.edu	37	chrX	53268422	53268422	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catttccacgagggggaaagActgacggaaactgtacgtca	12	9	1	2			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chrX:53268422A>T	ENST00000375368.5	-	10	3240	c.3040T>A	c.(3040-3042)Tct>Act	p.S1014T	IQSEC2_ENST00000396435.3_Missense_Mutation_p.S1024T|IQSEC2_ENST00000375365.2_Missense_Mutation_p.S819T			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	1014	PH.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						AGGGGGAAAGACTGACGGAAA	0.512											OREG0019800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000396435.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						c.(3070-3072)Tct>Act		IQ motif and Sec7 domain 2							113	103	106					X																	53268422		2203	4300	6503	SO:0001583	missense	23096				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chrX:53268422A>T	AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"mental retardation, X-linked 1 (non-dysmorphic)"	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.3040T>A	X.37:g.53268422A>T	ENSP00000364517:p.Ser1014Thr		OREG0019800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	991	IQSEC2_ENST00000375365.2_Missense_Mutation_p.S819T|IQSEC2_ENST00000375368.5_Missense_Mutation_p.S1014T	p.S1024T	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN			11	3270	-			1014			PH.		B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	ENST00000375368.5	37	c.3070T>A		.	.	.	.	.	.	.	.	.	.	A	23.8	4.457935	0.84317	.	.	ENSG00000124313	ENST00000396435;ENST00000375368;ENST00000375365	T;T;T	0.54866	0.55;0.55;0.55	5.61	5.61	0.85477	.	0.113988	0.64402	D	0.000009	T	0.64972	0.2647	M	0.62088	1.915	0.53688	D	0.999979	B;P	0.49447	0.184;0.924	B;P	0.61533	0.107;0.89	T	0.66646	-0.5871	10	0.52906	T	0.07	.	9.568	0.39411	0.8408:0.0:0.0:0.1592	.	1024;819	Q5JU85-2;Q5JU85-3	.;.	T	1024;1014;819	ENSP00000379712:S1024T;ENSP00000364517:S1014T;ENSP00000364514:S819T	ENSP00000364514:S819T	S	-	1	0	IQSEC2	53285147	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.614000	0.54160	1.888000	0.54679	0.416000	0.27883	TCT		0.512	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding		XM_291345		23	41	0	0	0	1	0	23	41					T	53268422	A	T	53268422	3	4	335	1	0	0	0	0	1	0	0	0	7818	275	10	5	1416	5	IQSEC2	23	53268422	Missense_Mutation	SNP	A	TCGA-EM-A3OB-01A-11D-A21Z-08		53268422	102002138	24	7155											
ARMCX3	51566	broad.mit.edu	37	chrX	100880152	100880154	+	In_Frame_Del	DEL	TGA	TGA	-													gccaggtataatgactggtcTgatgatgatgatgacagcaa							TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chrX:100880152_100880154delTGA	ENST00000341189.4	+	5	1049_1051	c.183_185delTGA	c.(181-186)tctgat>tct	p.D66del	ARMCX3_ENST00000471229.2_In_Frame_Del_p.D66del|ARMCX3_ENST00000537169.1_In_Frame_Del_p.D66del|RP4-545K15.5_ENST00000564612.1_RNA|ARMCX3-AS1_ENST00000454228.1_RNA	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	66					cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						ATGACTGGTCTGATGATGATGAT	0.517																																						ENST00000341189.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(181-186)tct>tc		armadillo repeat containing, X-linked 3																																				SO:0001651	inframe_deletion	51566					integral to membrane	binding	g.chrX:100880152_100880154delTGA	AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"Armadillo repeat containing"	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.183_185delTGA	X.37:g.100880161_100880163delTGA	ENSP00000340672:p.Asp66del					ARMCX3_ENST00000471229.2_In_Frame_Del_p.SD61del|ARMCX3_ENST00000537169.1_In_Frame_Del_p.SD61del	p.SD61del	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN			5	1049_1051	+			61					Q53HC6|Q7LCF5|Q9NPE4	In_Frame_Del	DEL	ENST00000341189.4	37	c.183_185delTGA	CCDS14489.1																																																																																				0.517	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057568.2	NM_016607		7	309						7	309	---	---	---	---	-	100880154	TGA	-	100880152	7	5	335	1	0	1	0	1	0	0	0	0	961	1567	55	0	185	0	ARMCX3	23	100880152	In_Frame_Del	DEL	TGA	TCGA-EM-A3OB-01A-11D-A21Z-08	47611730	100880152	54390408	25	7156											
RAB39B	116442	broad.mit.edu	37	chrX	154490295	154490295	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttcaatgtacttcatgccGtatgcagcagccagtttctc	8	11	3	0	rs376181426		TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chrX:154490295G>A	ENST00000369454.3	-	2	735	c.435C>T	c.(433-435)taC>taT	p.Y145Y		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	145					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|synapse organization (GO:0050808)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACTTCATGCCGTATGCAGCAG	0.498																																						ENST00000369454.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19						c.(433-435)taC>taT		RAB39B, member RAS oncogene family		G		1,3834		0,1,1631,571	113	94	100		435	0.3	1.0	X		100	0,6728		0,0,2428,1872	no	coding-synonymous	RAB39B	NM_171998.2		0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095		145/214	154490295	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	116442				protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding	g.chrX:154490295G>A	AY052478	CCDS14766.1	Xq28	2014-01-31			ENSG00000155961	ENSG00000155961		"RAB, member RAS oncogene"	16499	protein-coding gene	gene with protein product		300774	"mental retardation, X-linked 72"	MRX72		12438742, 20159109	Standard	NM_171998		Approved		uc004fne.3	Q96DA2	OTTHUMG00000022659	ENST00000369454.3:c.435C>T	X.37:g.154490295G>A							p.Y145Y	NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN			2	735	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		145					Q5JT79|Q8NEX3	Silent	SNP	ENST00000369454.3	37	c.435C>T	CCDS14766.1																																																																																				0.498	RAB39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058792.1	NM_171998		4	96	0	0	0	1	0	4	96					A	154490295	G	A	154490295	2	1	335	1	0	0	0	0	0	0	0	1	12930	1140	40	1		1	RAB39B	23	154490295	Silent	SNP	G	TCGA-EM-A3OB-01A-11D-A21Z-08	53610143	154490295	780265	26	7157											
MACF1	23499	broad.mit.edu	37	chr1	39854046	39854046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcaaattagacatagagGcctctgaagcagagtgtcga	10	9	2	4			TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr1:39854046G>A	ENST00000372915.3	+	57	15634	c.15547G>A	c.(15547-15549)Gcc>Acc	p.A5183T	MACF1_ENST00000539005.1_Missense_Mutation_p.A3095T|MACF1_ENST00000567887.1_Missense_Mutation_p.A5215T|MACF1_ENST00000564288.1_Missense_Mutation_p.A5178T|MACF1_ENST00000289893.4_Missense_Mutation_p.A3618T|MACF1_ENST00000317713.7_Missense_Mutation_p.A3116T|MACF1_ENST00000545844.1_Missense_Mutation_p.A3116T|MACF1_ENST00000361689.2_Missense_Mutation_p.A3116T			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5183					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGACATAGAGGCCTCTGAAGC	0.473																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(15532-15534)Gcc>Acc		microtubule-actin crosslinking factor 1							52	52	52					1																	39854046		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39854046G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.15547G>A	1.37:g.39854046G>A	ENSP00000362006:p.Ala5183Thr					MACF1_ENST00000545844.1_Missense_Mutation_p.A3116T|MACF1_ENST00000361689.2_Missense_Mutation_p.A3116T|MACF1_ENST00000289893.4_Missense_Mutation_p.A3618T|MACF1_ENST00000539005.1_Missense_Mutation_p.A3095T|MACF1_ENST00000372915.3_Missense_Mutation_p.A5183T|MACF1_ENST00000317713.7_Missense_Mutation_p.A3116T|MACF1_ENST00000567887.1_Missense_Mutation_p.A5215T	p.A5178T			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		58	16309	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	5183					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.15532G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.00|13.00	2.105658|2.105658	0.37145|0.37145	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.35789|.	1.29;1.29;1.29;1.29;1.29;1.29|.	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	0.092983|.	0.47093|.	D|.	0.000255|.	T|T	0.61739|0.61739	0.2371|0.2371	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	P;B;B|.	0.39131|.	0.661;0.099;0.219|.	P;B;B|.	0.48334|.	0.574;0.096;0.199|.	T|T	0.57260|0.57260	-0.7842|-0.7842	10|5	0.13853|.	T|.	0.58|.	.|.	13.8028|13.8028	0.63212|0.63212	0.0:0.0:0.7307:0.2693|0.0:0.0:0.7307:0.2693	.|.	5183;3116;3060|.	Q9UPN3;F8W8Q1;Q9UPN3-3|.	MACF1_HUMAN;.;.|.	T|D	3116;5183;3116;3116;3095;3618|2228	ENSP00000439537:A3116T;ENSP00000362006:A5183T;ENSP00000354573:A3116T;ENSP00000313438:A3116T;ENSP00000444364:A3095T;ENSP00000289893:A3618T|.	ENSP00000289893:A3618T|.	A|G	+|+	1|2	0|0	MACF1|MACF1	39626633|39626633	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	3.309000|3.309000	0.51903|0.51903	2.722000|2.722000	0.93159|0.93159	0.563000|0.563000	0.77884|0.77884	GCC|GGC		0.473	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		18	17	0	0	0	1	0	18	17					A	39854046	G	A	39854046	3	1	336	1	0	0	0	0	1	0	0	0	9144	1203	42	2	15707	2	MACF1	1	39854046	Missense_Mutation	SNP	G	TCGA-EM-A3ST-01A-11D-A22Z-08		39854046	209396575	1	7158											
NRAS	4893	broad.mit.edu	37	chr1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catggcactgtactcttcttGtccagctgtatccagtatgt	8	11	2	0	rs121913254		TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		610	Substitution - Missense(609)|Complex(1)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)	skin(372)|haematopoietic_and_lymphoid_tissue(73)|thyroid(55)|NS(29)|large_intestine(28)|soft_tissue(16)|lung(12)|autonomic_ganglia(6)|liver(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|cervix(2)|endometrium(2)|pancreas(2)|meninges(1)|kidney(1)|biliary_tract(1)|stomach(1)|ovary(1)|bone(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)Caa>Aaa		neuroblastoma RAS viral (v-ras) oncogene homolog							180	156	164					1																	115256530		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256530G>T	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.181C>A	1.37:g.115256530G>T	ENSP00000358548:p.Gln61Lys	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61K	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	434	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.181C>A	CCDS877.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255564	0.95336	.	.	ENSG00000213281	ENST00000369535	D	0.83506	-1.73	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.91845	0.7419	H	0.95850	3.73	0.80722	D	1	P	0.51791	0.948	P	0.54759	0.76	D	0.93711	0.7024	10	0.62326	D	0.03	.	18.6626	0.91477	0.0:0.0:1.0:0.0	.	61	P01111	RASN_HUMAN	K	61	ENSP00000358548:Q61K	ENSP00000358548:Q61K	Q	-	1	0	NRAS	115058053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.520000	0.98027	2.624000	0.88883	0.655000	0.94253	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		55	70	1	0	2.2129e-31	1	2.56982e-31	55	70					T	115256530	G	T	115256530	3	4	336	1	0	0	0	0	1	0	0	0	10640	1386	48	4	400	4	NRAS	1	115256530	Missense_Mutation	SNP	G	TCGA-EM-A3ST-01A-11D-A22Z-08	75402484	115256530	133994091	2	7159											
IGSF9	57549	broad.mit.edu	37	chr1	159906610	159906610	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtcacatgaggcaggggGctgccacgggccacacaacg	14	14	1	1			TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr1:159906610G>A	ENST00000368094.1	-	5	686	c.489C>T	c.(487-489)agC>agT	p.S163S	IGSF9_ENST00000361509.3_Silent_p.S163S|IGSF9_ENST00000493195.1_5'Flank	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	163	Ig-like 2.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GAGGCAGGGGGCTGCCACGGG	0.617											OREG0013921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000368094.1																			0				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(487-489)agC>agT		immunoglobulin superfamily, member 9							63	65	64					1																	159906610		2203	4300	6503	SO:0001819	synonymous_variant	57549					cell junction|integral to membrane|synapse		g.chr1:159906610G>A	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.489C>T	1.37:g.159906610G>A			OREG0013921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1804	IGSF9_ENST00000361509.3_Silent_p.S163S	p.S163S	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		5	686	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	163			Ig-like 2.			Silent	SNP	ENST00000368094.1	37	c.489C>T	CCDS44254.1																																																																																				0.617	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		22	38	0	0	0	1	0	22	38					A	159906610	G	A	159906610	2	1	336	1	0	0	0	0	0	0	0	1	7605	1194	42	2		2	IGSF9	1	159906610	Silent	SNP	G	TCGA-EM-A3ST-01A-11D-A22Z-08	44650080	159906610	89344011	3	7160											
TTN	7273	broad.mit.edu	37	chr2	179441971	179441971	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gactgttaccttcacatgttCcaccttcgtgccaaaaggat	7	12	1	0			TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr2:179441971C>A	ENST00000591111.1	-	274	64392	c.64168G>T	c.(64168-64170)Gaa>Taa	p.E21390*	TTN_ENST00000589042.1_Nonsense_Mutation_p.E23031*|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E14158*|TTN_ENST00000342992.6_Nonsense_Mutation_p.E20463*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E14091*|TTN_ENST00000460472.2_Nonsense_Mutation_p.E13966*|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21390	Ig-like 113.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCACATGTTCCACCTTCGTG	0.448																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(69091-69093)Gaa>Taa		titin							79	74	75					2																	179441971		1957	4160	6117	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179441971C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.64168G>T	2.37:g.179441971C>A	ENSP00000465570:p.Glu21390*					TTN_ENST00000359218.5_Nonsense_Mutation_p.E14091*|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E14158*|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E20463*|TTN_ENST00000460472.2_Nonsense_Mutation_p.E13966*|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.E21390*	p.E23031*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		324	69315	-			21390			Fibronectin type-III 67.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.69091G>T		.	.	.	.	.	.	.	.	.	.	C	62	65.873957	0.99991	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0281	0.97530	0.0:1.0:0.0:0.0	.	.	.	.	X	20463;13966;14158;14091;13964	.	ENSP00000340554:E14158X	E	-	1	0	TTN	179150217	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	7.770000	0.85390	2.818000	0.97014	0.655000	0.94253	GAA		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	29	1	0	0.115264	1	0.115264	3	29					A	179441971	C	A	179441971	4	1	336	1	0	0	0	0	0	1	0	0	16732	864	30	4	39044	4	TTN	2	179441971	Nonsense_Mutation	SNP	C	TCGA-EM-A3ST-01A-11D-A22Z-08		179441971	63757402	4	7161											
TGM4	7047	broad.mit.edu	37	chr3	44948680	44948680	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gagatatcacctatgagtacAagtatccagaaggtgctagc	10	8	1	3			TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr3:44948680A>T	ENST00000296125.4	+	10	1383	c.1315A>T	c.(1315-1317)Aag>Tag	p.K439*		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	439					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CTATGAGTACAAGTATCCAGA	0.512																																						ENST00000296125.4																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(1315-1317)Aag>Tag		transglutaminase 4	L-Glutamine(DB00130)						133	129	130					3																	44948680		2203	4300	6503	SO:0001587	stop_gained	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44948680A>T	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"Transglutaminases"	11780	protein-coding gene	gene with protein product		600585	"transglutaminase 4 (prostate)"			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.1315A>T	3.37:g.44948680A>T	ENSP00000296125:p.Lys439*						p.K439*	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	10	1383	+			439					Q16707|Q96QN4	Nonsense_Mutation	SNP	ENST00000296125.4	37	c.1315A>T	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	A	17.13	3.310097	0.60414	.	.	ENSG00000163810	ENST00000296125	.	.	.	2.03	2.03	0.26663	.	0.000000	0.46442	U	0.000299	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0663	0.42306	1.0:0.0:0.0:0.0	.	.	.	.	X	439	.	ENSP00000296125:K439X	K	+	1	0	TGM4	44923684	1.000000	0.71417	0.144000	0.22314	0.053000	0.15095	5.713000	0.68415	0.860000	0.35481	0.377000	0.23210	AAG		0.512	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		9	85	0	0	0	1	0	9	85					T	44948680	A	T	44948680	4	4	336	1	0	0	0	0	0	1	0	0	15829	131	5	5	1353	5	TGM4	3	44948680	Nonsense_Mutation	SNP	A	TCGA-EM-A3ST-01A-11D-A22Z-08		44948680	153073750	5	7162											
RAB6B	51560	broad.mit.edu	37	chr3	133558368	133558368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcttatcagccaggtccGtcttgttgcccaccagcatg	8	15	3	0	rs201627683		TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr3:133558368G>A	ENST00000285208.4	-	5	732	c.383C>T	c.(382-384)aCg>aTg	p.T128M	RAB6B_ENST00000469959.1_Intron|RAB6B_ENST00000543906.1_Missense_Mutation_p.T128M|RAB6B_ENST00000486858.1_Missense_Mutation_p.T115M	NM_016577.3	NP_057661.3	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	128					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						AGCCAGGTCCGTCTTGTTGCC	0.562													G|||	1	0.000199681	0	0	5008	,	,		22818	0.001		0	False		,,,				2504	0					ENST00000285208.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						c.(382-384)aCg>aTg		RAB6B, member RAS oncogene family							242	182	202					3																	133558368		2203	4300	6503	SO:0001583	missense	51560				protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|Golgi membrane	GTP binding|GTPase activity|protein binding	g.chr3:133558368G>A	AF166492	CCDS3082.1	3q22.1	2008-05-15			ENSG00000154917	ENSG00000154917		"RAB, member RAS oncogene"	14902	protein-coding gene	gene with protein product		615852					Standard	NM_016577		Approved		uc003epy.3	Q9NRW1	OTTHUMG00000159749	ENST00000285208.4:c.383C>T	3.37:g.133558368G>A	ENSP00000285208:p.Thr128Met					RAB6B_ENST00000486858.1_Missense_Mutation_p.T115M|RAB6B_ENST00000469959.1_Intron|RAB6B_ENST00000543906.1_Missense_Mutation_p.T128M	p.T128M	NM_016577.3	NP_057661.3	Q9NRW1	RAB6B_HUMAN			5	732	-			128					B2R5Z9|B7Z337|D3DND3|Q92929	Missense_Mutation	SNP	ENST00000285208.4	37	c.383C>T	CCDS3082.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	23.0	4.362173	0.82353	.	.	ENSG00000154917	ENST00000285208;ENST00000543906;ENST00000486858;ENST00000477759;ENST00000460865	T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.07	5.08	4.2	0.49525	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.83566	0.5282	L	0.38692	1.165	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.69479	0.964;0.957	D	0.85022	0.0912	10	0.87932	D	0	-8.0009	12.6149	0.56571	0.0818:0.0:0.9182:0.0	.	115;128	B7Z337;Q9NRW1	.;RAB6B_HUMAN	M	128;128;115;95;74	ENSP00000285208:T128M;ENSP00000437797:T128M;ENSP00000419381:T115M;ENSP00000419941:T95M;ENSP00000419526:T74M	ENSP00000285208:T128M	T	-	2	0	RAB6B	135041058	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	9.069000	0.93967	1.267000	0.44247	0.655000	0.94253	ACG		0.562	RAB6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357152.1			33	40	0	0	0	1	0	33	40					A	133558368	G	A	133558368	3	1	336	1	0	0	0	0	1	0	0	0	12952	1145	40	1	259	1	RAB6B	3	133558368	Missense_Mutation	SNP	G	TCGA-EM-A3ST-01A-11D-A22Z-08	88609688	133558368	64464062	6	7163											
SEPSECS	51091	broad.mit.edu	37	chr4	25160718	25160718	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttcatcccagccattctcTggacacttgcccttaaaaaa	4	14	2	0	rs565486033		TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr4:25160718T>C	ENST00000382103.2	-	2	198	c.126A>G	c.(124-126)ccA>ccG	p.P42P	SEPSECS_ENST00000302922.3_Intron|PI4K2B_ENST00000512921.1_5'Flank	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	42	Tetramerization.				selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	pyridoxal phosphate binding (GO:0030170)|transferase activity, transferring selenium-containing groups (GO:0016785)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)				AGCCATTCTCTGGACACTTGC	0.343																																						ENST00000382103.2																			0				endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8						c.(124-126)ccA>ccG		Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	Pyridoxal Phosphate(DB00114)						147	123	130					4																	25160718		692	1591	2283	SO:0001819	synonymous_variant	51091				selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding	g.chr4:25160718T>C	AJ238617	CCDS3432.1, CCDS3432.2	4p15.2	2008-10-27			ENSG00000109618	ENSG00000109618			30605	protein-coding gene	gene with protein product	"soluble liver antigen/liver pancreas antigen"	613009				16230358, 10931155, 17142313, 17194211	Standard	NM_016955		Approved	SLA/LP, SLA	uc003grg.3	Q9HD40	OTTHUMG00000128563	ENST00000382103.2:c.126A>G	4.37:g.25160718T>C						SEPSECS_ENST00000302922.3_Intron	p.P42P	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN			2	198	-		Breast(46;0.173)	42					A8K8W1|Q0D2P3|Q17RT1|Q9NXZ5|Q9UGM9|Q9Y353	Silent	SNP	ENST00000382103.2	37	c.126A>G	CCDS3432.2																																																																																				0.343	SEPSECS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250414.2	NM_016955		10	19	0	0	0	1	0	10	19					C	25160718	T	C	25160718	2	2	336	1	0	0	0	0	0	0	0	1	14058	1567	55	3		3	SEPSECS	4	25160718	Silent	SNP	T	TCGA-EM-A3ST-01A-11D-A22Z-08		25160718	165993558	7	7164											
TRERF1	55809	broad.mit.edu	37	chr6	42204105	42204106	+	In_Frame_Ins	INS	-	-	TCC													atttcctatcttcttccgggINStcctcctcctcctcctcctc					rs146190272|rs373986015|rs111816381	byFrequency	TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr6:42204105_42204106insTCC	ENST00000372922.4	-	16	3465_3466	c.2903_2904insGGA	c.(2902-2904)gac>gaGGAc	p.967_968insE	TRERF1_ENST00000541110.1_In_Frame_Ins_p.987_988insE|TRERF1_ENST00000354325.2_In_Frame_Ins_p.884_885insE|TRERF1_ENST00000340840.2_In_Frame_Ins_p.884_885insE|TRERF1_ENST00000372917.4_In_Frame_Ins_p.884_885insE	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	967	Glu-rich.|Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTCTTCCGGGtcctcctcctc	0.53														199	0.0397364	0.1392	0.0187	5008	,	,		18590	0		0	False		,,,				2504	0.002					ENST00000541110.1																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45						c.(2962-2964)gcc>gGGAcc		transcriptional regulating factor 1																																				SO:0001652	inframe_insertion	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42204105_42204106insTCC	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"breast cancer anti-estrogen resistance 2"	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.2901_2903dupGGA	6.37:g.42204112_42204114dupTCC	ENSP00000362013:p.Glu967_Glu967dup					TRERF1_ENST00000372917.4_In_Frame_Ins_p.885_885A>GT|TRERF1_ENST00000340840.2_In_Frame_Ins_p.885_885A>GT|TRERF1_ENST00000354325.2_In_Frame_Ins_p.885_885A>GT|TRERF1_ENST00000372922.4_In_Frame_Ins_p.968_968A>GT	p.988_988A>GT			Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		16	3531_3532	-	Colorectal(47;0.196)		968			Interacts with CREBBP.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	In_Frame_Ins	INS	ENST00000372922.4	37	c.2963_2964insGGA	CCDS4867.1																																																																																				0.53	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		3	3						3	3	---	---	---	---	TCC	42204106	-	TCC	42204105	7	5	336	1	0	1	1	0	0	0	0	0	16472	1252	44	0	710	0	TRERF1	6	42204105	In_Frame_Ins	INS	-	TCGA-EM-A3ST-01A-11D-A22Z-08		42204105	128910962	8	7165											
NSUN5	55695	broad.mit.edu	37	chr7	72717996	72717996	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agacgcaccgggctaggtgtGcctgccccgggctcctccag	14	16	0	1			TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr7:72717996G>C	ENST00000252594.6	-	8	987	c.972C>G	c.(970-972)ggC>ggG	p.G324G	NSUN5_ENST00000438747.2_Silent_p.G324G|NSUN5_ENST00000310326.8_Silent_p.G324G|NSUN5_ENST00000428206.1_Silent_p.G286G			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	324					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				GGCTAGGTGTGCCTGCCCCGG	0.607																																						ENST00000428206.1																			0				breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(856-858)ggC>ggG		NOP2/Sun domain family, member 5							42	46	45					7																	72717996		2203	4300	6503	SO:0001819	synonymous_variant	55695						methyltransferase activity	g.chr7:72717996G>C	AF420249	CCDS5546.1, CCDS5547.1, CCDS55118.1, CCDS55119.1	7q11.23	2010-04-08	2009-11-23	2005-01-14	ENSG00000130305	ENSG00000130305		"NOP2/Sun domain containing"	16385	protein-coding gene	gene with protein product	"NOP2/Sun domain family, member 5A"	615732	"Williams Beuren syndrome chromosome region 20A", "NOL1/NOP2/Sun domain family, member 5"	WBSCR20, WBSCR20A		11978965, 12073013	Standard	NM_148956		Approved	NOL1R, p120, (NOL1), FLJ10267, NSUN5A, Ynl022cL	uc011kev.2	Q96P11	OTTHUMG00000129869	ENST00000252594.6:c.972C>G	7.37:g.72717996G>C						NSUN5_ENST00000310326.8_Silent_p.G324G|NSUN5_ENST00000252594.6_Silent_p.G324G|NSUN5_ENST00000438747.2_Silent_p.G324G	p.G286G	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN			8	871	-		Lung NSC(55;0.163)	324			S-adenosyl-L-methionine binding.		B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	Silent	SNP	ENST00000252594.6	37	c.858C>G	CCDS5547.1																																																																																				0.607	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252113.1	NM_148956		3	32	0	0	0	1	0	3	32					C	72717996	G	C	72717996	2	2	336	1	0	0	0	0	0	0	0	1	10681	1306	46	4		4	NSUN5	7	72717996	Silent	SNP	G	TCGA-EM-A3ST-01A-11D-A22Z-08		72717996	86420667	9	7166											
C9orf93	203238	broad.mit.edu	37	chr9	15579022	15579022	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatccaagaaaaactctgtgGtaagactgtttctatttctt	7	7	3	2			TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr9:15579022G>A	ENST00000380701.3	+	4	680		c.e4+1		CCDC171_ENST00000535968.1_Splice_Site|CCDC171_ENST00000297641.3_Splice_Site	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171																		AAACTCTGTGGTAAGACTGTT	0.443																																						ENST00000380701.3																			0											c.e4+1		coiled-coil domain containing 171							79	77	77					9																	15579022		2203	4300	6503	SO:0001630	splice_region_variant	203238							g.chr9:15579022G>A	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"myosin tail domain containing protein"		"chromosome 9 open reading frame 93"	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.352+1G>A	9.37:g.15579022G>A						CCDC171_ENST00000297641.3_Splice_Site|CCDC171_ENST00000535968.1_Splice_Site		NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN			4	680	+								B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Splice_Site	SNP	ENST00000380701.3	37		CCDS6481.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.827287	0.50739	.	.	ENSG00000164989	ENST00000535968;ENST00000297641;ENST00000380701	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.71	0.88319	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C9orf93	15569022	1.000000	0.71417	1.000000	0.80357	0.440000	0.31957	5.825000	0.69286	2.477000	0.83638	0.455000	0.32223	.		0.443	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550	Intron	18	26	0	0	0	1	0	18	26					A	15579022	G	A	15579022	5	1	336	1	0	0	0	0	0	0	1	0	2506	1275	44	2	363	2	C9orf93	9	15579022	Splice_Site	SNP	G	TCGA-EM-A3ST-01A-11D-A22Z-08		15579022	125634409	10	7167											
WNK2	65268	broad.mit.edu	37	chr9	96000545	96000545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggccagctttgagaaagtgCacgatcctgaaatcaaggag	12	9	1	2			TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr9:96000545C>T	ENST00000297954.4	+	5	1264	c.1264C>T	c.(1264-1266)Cac>Tac	p.H422Y	WNK2_ENST00000395477.2_Missense_Mutation_p.H422Y|WNK2_ENST00000349097.3_Missense_Mutation_p.H34Y|WNK2_ENST00000427277.2_Missense_Mutation_p.H34Y|WNK2_ENST00000395475.2_Missense_Mutation_p.H408Y|WNK2_ENST00000356055.3_5'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	422	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TGAGAAAGTGCACGATCCTGA	0.557																																						ENST00000297954.4																			0				breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(1264-1266)Cac>Tac		WNK lysine deficient protein kinase 2							100	89	93					9																	96000545		2203	4300	6503	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96000545C>T	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"serologically defined colon cancer antigen 43"	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.1264C>T	9.37:g.96000545C>T	ENSP00000297954:p.His422Tyr					WNK2_ENST00000395477.2_Missense_Mutation_p.H422Y|WNK2_ENST00000427277.2_Missense_Mutation_p.H34Y|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.H34Y|WNK2_ENST00000395475.2_Missense_Mutation_p.H408Y	p.H422Y			Q9Y3S1	WNK2_HUMAN			5	1264	+			422			Protein kinase.		Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.1264C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.14|13.14	2.148751|2.148751	0.37923|0.37923	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000411624|ENST00000448039;ENST00000297954;ENST00000395477;ENST00000395475;ENST00000349097;ENST00000427277	.|T;T;T;T;T;T	.|0.22945	.|1.93;1.93;1.93;1.93;1.93;1.93	4.65|4.65	3.75|3.75	0.43078|0.43078	.|Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.733388	.|0.13246	.|N	.|0.402427	T|T	0.19208|0.19208	0.0461|0.0461	N|N	0.04260|0.04260	-0.245|-0.245	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D;P;D;D	.|0.59357	.|0.962;0.962;0.837;0.962;0.985	.|P;B;B;P;P	.|0.57057	.|0.573;0.373;0.25;0.573;0.812	T|T	0.09335|0.09335	-1.0679|-1.0679	5|10	.|0.52906	.|T	.|0.07	.|.	3.7172|3.7172	0.08442|0.08442	0.208:0.5677:0.1333:0.091|0.208:0.5677:0.1333:0.091	.|.	.|422;422;25;422;422	.|Q9Y3S1-2;Q9Y3S1-4;A6PVR4;F8W9F9;Q9Y3S1	.|.;.;.;.;WNK2_HUMAN	V|Y	25|422;422;422;408;34;34	.|ENSP00000412465:H422Y;ENSP00000297954:H422Y;ENSP00000378860:H422Y;ENSP00000378858:H408Y;ENSP00000297876:H34Y;ENSP00000411181:H34Y	.|ENSP00000297954:H422Y	A|H	+|+	2|1	0|0	WNK2|WNK2	95040366|95040366	0.824000|0.824000	0.29247|0.29247	0.884000|0.884000	0.34674|0.34674	0.870000|0.870000	0.49936|0.49936	2.039000|2.039000	0.41193|0.41193	1.051000|1.051000	0.40369|0.40369	0.561000|0.561000	0.74099|0.74099	GCA|CAC		0.557	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		3	30	0	0	0	1	0	3	30					T	96000545	C	T	96000545	3	4	336	1	0	0	0	0	1	0	0	0	17375	710	25	2	1282	2	WNK2	9	96000545	Missense_Mutation	SNP	C	TCGA-EM-A3ST-01A-11D-A22Z-08	80421523	96000545	45212886	11	7168											
HSPA5	3309	broad.mit.edu	37	chr9	127998975	127998975	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacaatttcttccagttcctTcttcttagctttgaagtctt	4	10	4	1			TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr9:127998975T>C	ENST00000324460.6	-	8	2064	c.1861A>G	c.(1861-1863)Aag>Gag	p.K621E		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	621					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)	p.K621E(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	TCCAGTTCCTTCTTCTTAGCT	0.423										Prostate(1;0.17)																												ENST00000324460.6																			1	Substitution - Missense(1)	p.K621E(1)	kidney(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23						c.(1861-1863)Aag>Gag		heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	Antihemophilic Factor(DB00025)						106	100	102					9																	127998975		2203	4300	6503	SO:0001583	missense	3309				anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding	g.chr9:127998975T>C		CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"Heat shock proteins / HSP70"	5238	protein-coding gene	gene with protein product		138120	"heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.1861A>G	9.37:g.127998975T>C	ENSP00000324173:p.Lys621Glu	Prostate(1;0.17)					p.K621E	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN			8	2064	-			621					B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Missense_Mutation	SNP	ENST00000324460.6	37	c.1861A>G	CCDS6863.1	.	.	.	.	.	.	.	.	.	.	T	13.80	2.344314	0.41498	.	.	ENSG00000044574	ENST00000324460	T	0.15372	2.43	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.13457	0.0326	N	0.17379	0.485	0.80722	D	1	B	0.17667	0.023	B	0.26310	0.068	T	0.06844	-1.0804	10	0.87932	D	0	-19.9514	13.9572	0.64157	0.0:0.0:0.0:1.0	.	621	P11021	GRP78_HUMAN	E	621	ENSP00000324173:K621E	ENSP00000324173:K621E	K	-	1	0	HSPA5	127038796	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.997000	0.88414	1.955000	0.56771	0.477000	0.44152	AAG		0.423	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1			30	41	0	0	0	1	0	30	41					C	127998975	T	C	127998975	3	2	336	1	0	0	0	0	1	0	0	0	7414	1792	62	3	107	3	HSPA5	9	127998975	Missense_Mutation	SNP	T	TCGA-EM-A3ST-01A-11D-A22Z-08	31998430	127998975	13214456	12	7169											
OR4N5	390437	broad.mit.edu	37	chr14	20612098	20612098	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctgggcaacttggccttActggatgcatcctactcctt	8	12	1	0			TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr14:20612098A>C	ENST00000333629.1	+	1	204	c.204A>C	c.(202-204)ttA>ttC	p.L68F	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		ACTTGGCCTTACTGGATGCAT	0.478																																						ENST00000333629.1																			0				endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29						c.(202-204)ttA>ttC		olfactory receptor, family 4, subfamily N, member 5							180	184	182					14																	20612098		2203	4300	6503	SO:0001583	missense	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612098A>C		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"GPCR / Class A : Olfactory receptors"	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.204A>C	14.37:g.20612098A>C	ENSP00000332110:p.Leu68Phe						p.L68F	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	204	+	all_cancers(95;0.00108)		68					Q6IF11	Missense_Mutation	SNP	ENST00000333629.1	37	c.204A>C	CCDS32031.1	.	.	.	.	.	.	.	.	.	.	A	0.050	-1.253324	0.01457	.	.	ENSG00000184394	ENST00000333629	T	0.00363	7.82	3.99	1.15	0.20763	GPCR, rhodopsin-like superfamily (1);	0.149997	0.31301	N	0.007900	T	0.00109	0.0003	N	0.02345	-0.59	0.22629	N	0.998917	B	0.02656	0.0	B	0.01281	0.0	T	0.38866	-0.9641	10	0.02654	T	1	.	5.0783	0.14644	0.1664:0.6442:0.0:0.1894	.	68	Q8IXE1	OR4N5_HUMAN	F	68	ENSP00000332110:L68F	ENSP00000332110:L68F	L	+	3	2	OR4N5	19681938	0.000000	0.05858	0.998000	0.56505	0.792000	0.44763	-1.488000	0.02308	0.119000	0.18210	-0.778000	0.03378	TTA		0.478	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			4	172	0	0	0	1	0	4	172					C	20612098	A	C	20612098	3	2	336	1	0	0	0	0	1	0	0	0	11079	388	14	5	206	5	OR4N5	14	20612098	Missense_Mutation	SNP	A	TCGA-EM-A3ST-01A-11D-A22Z-08		20612098	86737442	13	7170											
LINGO1	84894	broad.mit.edu	37	chr15	77907884	77907884	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgcggagacccagcgtcCggaggttgaagaggttgttg	17	8	0	3	rs188738703		TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr15:77907884C>T	ENST00000355300.6	-	2	539	c.365G>A	c.(364-366)cGg>cAg	p.R122Q	LINGO1_ENST00000561030.1_Missense_Mutation_p.R116Q	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	122					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						ACCCAGCGTCCGGAGGTTGAA	0.617													C|||	1	0.000199681	0	0.0014	5008	,	,		18926	0		0	False		,,,				2504	0					ENST00000355300.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(364-366)cGg>cAg		leucine rich repeat and Ig domain containing 1							50	55	54					15																	77907884		2070	4188	6258	SO:0001583	missense	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77907884C>T	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"Immunoglobulin superfamily / I-set domain containing"	21205	protein-coding gene	gene with protein product		609791	"leucine rich repeat neuronal 6A"	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.365G>A	15.37:g.77907884C>T	ENSP00000347451:p.Arg122Gln					LINGO1_ENST00000561030.1_Missense_Mutation_p.R116Q	p.R122Q	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN			2	539	-			122					D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	ENST00000355300.6	37	c.365G>A	CCDS45313.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	14.93	2.682290	0.47991	.	.	ENSG00000169783	ENST00000355300	T	0.58506	0.33	5.63	5.63	0.86233	.	0.062472	0.64402	D	0.000005	T	0.42832	0.1220	L	0.31845	0.965	0.80722	D	1	P	0.34546	0.456	B	0.20767	0.031	T	0.42050	-0.9474	10	0.08179	T	0.78	.	19.6704	0.95910	0.0:1.0:0.0:0.0	.	122	Q96FE5	LIGO1_HUMAN	Q	122	ENSP00000347451:R122Q	ENSP00000347451:R122Q	R	-	2	0	LINGO1	75694939	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.050000	0.71063	2.659000	0.90383	0.561000	0.74099	CGG		0.617	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		8	16	0	0	0	1	0	8	16					T	77907884	C	T	77907884	3	4	336	1	0	0	0	0	1	0	0	0	8814	652	23	1	1501	1	LINGO1	15	77907884	Missense_Mutation	SNP	C	TCGA-EM-A3ST-01A-11D-A22Z-08		77907884	24623508	14	7171											
ANPEP	290	broad.mit.edu	37	chr15	90349592	90349592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcagcgtgttggggaggcGgtaacgattccacgctttac	13	9	1	0			TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr15:90349592G>A	ENST00000300060.6	-	2	536	c.223C>T	c.(223-225)Cgc>Tgc	p.R75C		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	75	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	TTGGGGAGGCGGTAACGATTC	0.627																																					NSCLC(30;827 977 2459 19669 26125)	ENST00000300060.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57						c.(223-225)Cgc>Tgc		alanyl (membrane) aminopeptidase	Ezetimibe(DB00973)						137	118	124					15																	90349592		2200	4299	6499	SO:0001583	missense	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90349592G>A	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"CD molecules"	500	protein-coding gene	gene with protein product	"aminopeptidase N", "aminopeptidase M", "microsomal aminopeptidase"	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.223C>T	15.37:g.90349592G>A	ENSP00000300060:p.Arg75Cys						p.R75C	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		2	536	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		75			Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	c.223C>T	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908387	0.52333	.	.	ENSG00000166825	ENST00000300060	T	0.03468	3.92	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.35740	0.0942	H	0.99404	4.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63963	-0.6518	10	0.87932	D	0	.	15.2194	0.73299	0.0:0.0:1.0:0.0	.	75	P15144	AMPN_HUMAN	C	75	ENSP00000300060:R75C	ENSP00000300060:R75C	R	-	1	0	ANPEP	88150596	1.000000	0.71417	0.996000	0.52242	0.147000	0.21601	3.489000	0.53237	2.180000	0.69256	0.467000	0.42956	CGC		0.627	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			5	71	0	0	0	1	0	5	71					A	90349592	G	A	90349592	3	1	336	1	0	0	0	0	1	0	0	0	710	1116	39	1	2760	1	ANPEP	15	90349592	Missense_Mutation	SNP	G	TCGA-EM-A3ST-01A-11D-A22Z-08	12441708	90349592	12181800	15	7172											
MSLNL	401827	broad.mit.edu	37	chr16	830765	830766	+	Intron	INS	-	-	CAG													ctgtgtgcacgggtaggtgaINScggtgtgcacgggtaggtga					rs550446343|rs370853100	byFrequency	TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr16:830765_830766insCAG	ENST00000442466.1	-	2	37				MSLNL_ENST00000293892.3_In_Frame_Ins_p.78_79insA			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CGGGTAGGTGACGGTGTGCACG	0.589																																						ENST00000293892.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						c.(235-237)cac>CTGcac		mesothelin-like																																				SO:0001627	intron_variant	401827				cell adhesion	integral to membrane		g.chr16:830765_830766insCAG			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 37"	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.38-603->CTG	16.37:g.830765_830766insCAG						MSLNL_ENST00000442466.1_Intron	p.78_79insL			Q96KJ4	MSLNL_HUMAN			3	234_235	-			0						In_Frame_Ins	INS	ENST00000442466.1	37	c.235_236insCTG																																																																																					0.589	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		10	36						10	36	---	---	---	---	CAG	830766	-	CAG	830765	6	5	336	0	1	1	1	0	0	0	0	0	9882	275	10	0		0	MSLNL	16	830765	Intron	INS	-	TCGA-EM-A3ST-01A-11D-A22Z-08		830765	89523988	16	7173											
GPRC5B	51704	broad.mit.edu	37	chr16	19883140	19883140	+	Missense_Mutation	SNP	G	G	A													gggtggtgcccactttacctGcattgtgttcatccatggag							TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr16:19883140G>A	ENST00000300571.2	-	2	1219	c.1028C>T	c.(1027-1029)gCa>gTa	p.A343V	GPRC5B_ENST00000569847.1_Missense_Mutation_p.A343V|GPRC5B_ENST00000535671.1_Missense_Mutation_p.A343V|GPRC5B_ENST00000537135.1_Missense_Mutation_p.A369V|GPRC5B_ENST00000569479.1_Missense_Mutation_p.A343V	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	343					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CACTTTACCTGCATTGTGTTC	0.597																																						ENST00000300571.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1027-1029)gCa>gTa		G protein-coupled receptor, family C, group 5, member B							90	88	88					16																	19883140		2197	4300	6497	SO:0001583	missense	0							g.chr16:19883140G>A	AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"GPCR / Class C : Orphans"	13308	protein-coding gene	gene with protein product		605948	"G protein-coupled receptor, family C, group 1, member B", "G protein-coupled receptor, family C, group 5, member B"			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.1028C>T	16.37:g.19883140G>A	ENSP00000300571:p.Ala343Val					GPRC5B_ENST00000569847.1_Missense_Mutation_p.A343V|GPRC5B_ENST00000569479.1_Missense_Mutation_p.A343V|GPRC5B_ENST00000537135.1_Missense_Mutation_p.A369V|GPRC5B_ENST00000535671.1_Missense_Mutation_p.A343V	p.A343V	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN			2	1219	-			343					D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP	ENST00000300571.2	37	c.1028C>T	CCDS10581.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472756	0.84640	.	.	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000538074;ENST00000537135	T;T;T	0.29917	1.57;1.56;1.55	4.99	4.99	0.66335	.	0.191190	0.46145	D	0.000310	T	0.37892	0.1020	L	0.48642	1.525	0.80722	D	1	P;P	0.52316	0.952;0.914	P;B	0.49477	0.612;0.439	T	0.05241	-1.0897	9	.	.	.	.	17.457	0.87610	0.0:0.0:1.0:0.0	.	369;343	B7Z831;Q9NZH0	.;GPC5B_HUMAN	V	343;343;192;369	ENSP00000300571:A343V;ENSP00000442858:A343V;ENSP00000441775:A369V	.	A	-	2	0	GPRC5B	19790641	1.000000	0.71417	0.991000	0.47740	0.796000	0.44982	6.420000	0.73349	2.586000	0.87340	0.655000	0.94253	GCA		0.597	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1			23	47	0	0	0	1	0	23	47					A	19883140	G	A	19883140	3	1	336	1	0	0	0	0	1	0	0	0	6725	1319	46	2	195	2	GPRC5B	16	19883140	Missense_Mutation	SNP	G	TCGA-EM-A3ST-01A-11D-A22Z-08	19052375	19883140	70471613	17	7174	38	2									
GPRC5B	51704	broad.mit.edu	37	chr16	19883141	19883141	+	Missense_Mutation	SNP	C	C	A													ggtggtgcccactttacctgCattgtgttcatccatggaga							TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr16:19883141C>A	ENST00000300571.2	-	2	1218	c.1027G>T	c.(1027-1029)Gca>Tca	p.A343S	GPRC5B_ENST00000569847.1_Missense_Mutation_p.A343S|GPRC5B_ENST00000535671.1_Missense_Mutation_p.A343S|GPRC5B_ENST00000537135.1_Missense_Mutation_p.A369S|GPRC5B_ENST00000569479.1_Missense_Mutation_p.A343S	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	343					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						ACTTTACCTGCATTGTGTTCA	0.602																																						ENST00000300571.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1027-1029)Gca>Tca		G protein-coupled receptor, family C, group 5, member B							90	88	88					16																	19883141		2197	4300	6497	SO:0001583	missense	0							g.chr16:19883141C>A	AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"GPCR / Class C : Orphans"	13308	protein-coding gene	gene with protein product		605948	"G protein-coupled receptor, family C, group 1, member B", "G protein-coupled receptor, family C, group 5, member B"			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.1027G>T	16.37:g.19883141C>A	ENSP00000300571:p.Ala343Ser					GPRC5B_ENST00000569847.1_Missense_Mutation_p.A343S|GPRC5B_ENST00000569479.1_Missense_Mutation_p.A343S|GPRC5B_ENST00000537135.1_Missense_Mutation_p.A369S|GPRC5B_ENST00000535671.1_Missense_Mutation_p.A343S	p.A343S	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN			2	1218	-			343					D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP	ENST00000300571.2	37	c.1027G>T	CCDS10581.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.381091	0.24944	.	.	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000538074;ENST00000537135	T;T;T	0.27557	1.68;1.67;1.66	4.99	4.02	0.46733	.	0.191190	0.46145	N	0.000310	T	0.25717	0.0626	L	0.48642	1.525	0.53688	D	0.999972	B;B	0.28350	0.208;0.124	B;B	0.20384	0.029;0.02	T	0.04065	-1.0980	9	.	.	.	.	13.4013	0.60885	0.1711:0.8288:0.0:0.0	.	369;343	B7Z831;Q9NZH0	.;GPC5B_HUMAN	S	343;343;192;369	ENSP00000300571:A343S;ENSP00000442858:A343S;ENSP00000441775:A369S	.	A	-	1	0	GPRC5B	19790642	0.938000	0.31826	0.849000	0.33467	0.803000	0.45373	1.961000	0.40432	1.253000	0.44018	0.655000	0.94253	GCA		0.602	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1			23	49	1	0	7.76418e-22	1	8.73471e-22	23	49					A	19883141	C	A	19883141	3	1	336	1	0	0	0	0	1	0	0	0	6725	710	25	4	196	4	GPRC5B	16	19883141	Missense_Mutation	SNP	C	TCGA-EM-A3ST-01A-11D-A22Z-08	1	19883141	70471612	18	7175	38	2									
SHCBP1	79801	broad.mit.edu	37	chr16	46629511	46629511	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cattagaaactctgctgatgTccgcactgtgactccggtcg	10	12	1	3			TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr16:46629511T>G	ENST00000303383.3	-	10	1683	c.1417A>C	c.(1417-1419)Aca>Cca	p.T473P		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	473					fibroblast growth factor receptor signaling pathway (GO:0008543)|regulation of neural precursor cell proliferation (GO:2000177)					breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				TCTGCTGATGTCCGCACTGTG	0.453																																						ENST00000303383.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1417-1419)Aca>Cca		SHC SH2-domain binding protein 1							104	93	96					16																	46629511		2203	4300	6503	SO:0001583	missense	79801							g.chr16:46629511T>G	AK055931	CCDS10720.1	16q11	2008-02-05			ENSG00000171241	ENSG00000171241			29547	protein-coding gene	gene with protein product		611027				10086341	Standard	NM_024745		Approved	FLJ22009	uc002eec.4	Q8NEM2	OTTHUMG00000132540	ENST00000303383.3:c.1417A>C	16.37:g.46629511T>G	ENSP00000306473:p.Thr473Pro						p.T473P	NM_024745.4	NP_079021.3	Q8NEM2	SHCBP_HUMAN			10	1683	-		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)	473					Q96N60|Q9BVS0|Q9H6P6	Missense_Mutation	SNP	ENST00000303383.3	37	c.1417A>C	CCDS10720.1	.	.	.	.	.	.	.	.	.	.	T	13.78	2.339600	0.41398	.	.	ENSG00000171241	ENST00000303383	T	0.42900	0.96	4.03	4.03	0.46877	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.104529	0.64402	D	0.000004	T	0.55257	0.1909	L	0.53249	1.67	0.47778	D	0.999512	D	0.69078	0.997	D	0.68621	0.959	T	0.51663	-0.8677	10	0.28530	T	0.3	-11.6596	13.1453	0.59459	0.0:0.0:0.0:1.0	.	473	Q8NEM2	SHCBP_HUMAN	P	473	ENSP00000306473:T473P	ENSP00000306473:T473P	T	-	1	0	SHCBP1	45187012	1.000000	0.71417	0.134000	0.22075	0.127000	0.20565	3.915000	0.56409	1.695000	0.51148	0.533000	0.62120	ACA		0.453	SHCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255740.1	NM_024745		24	22	0	0	0	1	0	24	22					G	46629511	T	G	46629511	3	3	336	1	0	0	0	0	1	0	0	0	14274	1667	58	5	617	5	SHCBP1	16	46629511	Missense_Mutation	SNP	T	TCGA-EM-A3ST-01A-11D-A22Z-08	26746370	46629511	43725242	19	7176											
MTSS1L	92154	broad.mit.edu	37	chr16	70699375	70699375	+	Frame_Shift_Del	DEL	G	G	-													ctgggagcactgaccgaggtGggggagctgcactcgctaac							TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr16:70699375delG	ENST00000338779.6	-	12	1396	c.1122delC	c.(1120-1122)cccfs	p.P374fs	FLJ00418_ENST00000597002.1_3'UTR	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	374	Ser-rich.				filopodium assembly (GO:0046847)|signal transduction (GO:0007165)					breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						TGACCGAGGTGGGGGAGCTGC	0.652																																						ENST00000338779.6																			0				breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						c.(1120-1122)ccfs		metastasis suppressor 1-like							27	24	25					16																	70699375		2164	4246	6410	SO:0001589	frameshift_variant	92154				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding	g.chr16:70699375delG		CCDS32476.1	16q22.1	2008-12-16				ENSG00000132613			25094	protein-coding gene	gene with protein product	"actin-bundling protein with BAIAP2 homology"					12477932	Standard	XM_006721335		Approved	ABBA-1, LOC92154	uc002ezj.3	Q765P7		ENST00000338779.6:c.1122delC	16.37:g.70699375delG	ENSP00000341171:p.Pro374fs					FLJ00418_ENST00000597002.1_3'UTR	p.P374fs	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN			12	1396	-			374			Ser-rich.		A6NJI7|Q9BUA8	Frame_Shift_Del	DEL	ENST00000338779.6	37	c.1122delC	CCDS32476.1																																																																																				0.652	MTSS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434927.3	NM_138383		2	4						2	4	---	---	---	---	-	70699375	G	-	70699375	7	5	336	1	0	1	0	1	0	0	0	0	9963	1335	47	0	1137	0	MTSS1L	16	70699375	Frame_Shift_Del	DEL	G	TCGA-EM-A3ST-01A-11D-A22Z-08	24069864	70699375	19655378	20	7177											
GSDMA	284110	broad.mit.edu	37	chr17	38128401	38128401	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatattccacatatctgcaaTgataacatgcaaaccttccc	4	12	1	1			TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr17:38128401T>A	ENST00000301659.4	+	6	793	c.675T>A	c.(673-675)aaT>aaA	p.N225K		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	225					apoptotic process (GO:0006915)	perinuclear region of cytoplasm (GO:0048471)				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						ATATCTGCAATGATAACATGC	0.517																																						ENST00000301659.4																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						c.(673-675)aaT>aaA		gasdermin A							45	42	43					17																	38128401		1843	4077	5920	SO:0001583	missense	284110				apoptosis|induction of apoptosis	perinuclear region of cytoplasm		g.chr17:38128401T>A	AB093591	CCDS45669.1	17q21.2	2008-07-31	2008-07-31	2008-07-31		ENSG00000167914			13311	protein-coding gene	gene with protein product		611218	"gasdermin", "gasdermin 1"	GSDM, GSDM1		12883658, 15010812, 17350798	Standard	NM_178171		Approved	FLJ39120	uc002htl.1	Q96QA5		ENST00000301659.4:c.675T>A	17.37:g.38128401T>A	ENSP00000301659:p.Asn225Lys						p.N225K	NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN			6	793	+			225					Q32MC5|Q86VE7|Q8N1M6	Missense_Mutation	SNP	ENST00000301659.4	37	c.675T>A	CCDS45669.1	.	.	.	.	.	.	.	.	.	.	T	15.79	2.937413	0.52972	.	.	ENSG00000167914	ENST00000301659	T	0.21191	2.02	5.87	-4.76	0.03229	.	0.380726	0.26390	N	0.024659	T	0.16981	0.0408	M	0.62723	1.935	0.09310	N	0.999999	B	0.27910	0.193	B	0.28385	0.089	T	0.42032	-0.9475	10	0.08381	T	0.77	-12.0673	14.5245	0.67878	0.0:0.5804:0.0:0.4196	.	225	Q96QA5	GSDMA_HUMAN	K	225	ENSP00000301659:N225K	ENSP00000301659:N225K	N	+	3	2	GSDMA	35381927	0.376000	0.25098	0.015000	0.15790	0.578000	0.36192	-1.098000	0.03346	-1.001000	0.03434	-0.993000	0.02533	AAT		0.517	GSDMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446847.1	NM_178171		5	5	0	0	0	1	0	5	5					A	38128401	T	A	38128401	3	1	336	1	0	0	0	0	1	0	0	0	6816	1461	51	5	693	5	GSDMA	17	38128401	Missense_Mutation	SNP	T	TCGA-EM-A3ST-01A-11D-A22Z-08		38128401	43066809	21	7178											
FMNL1	752	broad.mit.edu	37	chr17	43321229	43321229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcccacagagtatgagcGcagcctcatcacccgctttg	9	16	2	2			TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr17:43321229G>A	ENST00000331495.3	+	18	2621	c.2285G>A	c.(2284-2286)cGc>cAc	p.R762H	FMNL1_ENST00000587489.1_Missense_Mutation_p.R340H|CTD-2020K17.3_ENST00000393507.2_RNA|CTD-2020K17.4_ENST00000420431.2_RNA|FMNL1_ENST00000328118.3_Missense_Mutation_p.R762H|CTD-2020K17.3_ENST00000587534.1_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	762	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GAGTATGAGCGCAGCCTCATC	0.637																																					GBM(164;1247 1997 8702 11086 51972)	ENST00000331495.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						c.(2284-2286)cGc>cAc		formin-like 1							52	52	52					17																	43321229		2203	4300	6503	SO:0001583	missense	752				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr17:43321229G>A	AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"formin-like"	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.2285G>A	17.37:g.43321229G>A	ENSP00000329219:p.Arg762His					FMNL1_ENST00000587489.1_Missense_Mutation_p.R340H|FMNL1_ENST00000328118.3_Missense_Mutation_p.R762H	p.R762H	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN			18	2621	+			762			FH2.		D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	ENST00000331495.3	37	c.2285G>A	CCDS11497.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.757920	0.69648	.	.	ENSG00000184922	ENST00000328118;ENST00000331495;ENST00000539884	T;T	0.17854	2.25;2.25	4.19	1.99	0.26369	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.233302	0.40144	N	0.001164	T	0.30572	0.0769	L	0.57536	1.79	0.44000	D	0.996703	D	0.71674	0.998	D	0.67725	0.953	T	0.02431	-1.1160	10	0.49607	T	0.09	.	8.3843	0.32491	0.0896:0.0:0.7578:0.1527	.	762	O95466	FMNL_HUMAN	H	762;762;417	ENSP00000327442:R762H;ENSP00000329219:R762H	ENSP00000327442:R762H	R	+	2	0	FMNL1	40677012	0.141000	0.22595	0.996000	0.52242	0.968000	0.65278	1.744000	0.38268	1.100000	0.41517	0.462000	0.41574	CGC		0.637	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892		15	19	0	0	0	1	0	15	19					A	43321229	G	A	43321229	3	1	336	1	0	0	0	0	1	0	0	0	5951	1087	38	1	2355	1	FMNL1	17	43321229	Missense_Mutation	SNP	G	TCGA-EM-A3ST-01A-11D-A22Z-08	5192828	43321229	37873981	22	7179											
FN3KRP	79672	broad.mit.edu	37	chr17	80684416	80684421	+	In_Frame_Del	DEL	ATGGAC	ATGGAC	-													ggcagcgcattcagccccagAtggacatggtggagaaggag							TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr17:80684416_80684421delATGGAC	ENST00000269373.6	+	5	602_607	c.529_534delATGGAC	c.(529-534)atggacdel	p.MD177del	RP11-388C12.5_ENST00000570919.1_lincRNA|FN3KRP_ENST00000535965.1_In_Frame_Del_p.MD127del	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	177							kinase activity (GO:0016301)			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			TCAGCCCCAGATGGACATGGTGGAGA	0.597																																						ENST00000269373.6																			0				breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7						c.(529-534)del		fructosamine 3 kinase related protein																																				SO:0001651	inframe_deletion	79672						kinase activity	g.chr17:80684416_80684421delATGGAC	AY360465	CCDS11817.1	17q25.3	2014-08-12			ENSG00000141560	ENSG00000141560			25700	protein-coding gene	gene with protein product		611683				14633848	Standard	NM_024619		Approved	FLJ12171, FN3KL	uc002kfu.3	Q9HA64	OTTHUMG00000177846	ENST00000269373.6:c.529_534delATGGAC	17.37:g.80684416_80684421delATGGAC	ENSP00000269373:p.Met177_Asp178del					FN3KRP_ENST00000535965.1_In_Frame_Del_p.MD127del	p.MD177del	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)		5	602_607	+	Breast(20;0.000523)|all_neural(118;0.0952)		177					Q969F4|Q9H0U7	In_Frame_Del	DEL	ENST00000269373.6	37	c.529_534delATGGAC	CCDS11817.1																																																																																				0.597	FN3KRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439219.1	NM_024619		41	85						41	85	---	---	---	---	-	80684421	ATGGAC	-	80684416	7	5	336	1	0	1	0	1	0	0	0	0	5964	333	12	0	547	0	FN3KRP	17	80684416	In_Frame_Del	DEL	ATGGAC	TCGA-EM-A3ST-01A-11D-A22Z-08	37363187	80684416	510794	23	7180											
MUC16	94025	broad.mit.edu	37	chr19	9013858	9013858	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacttacatgtagggctgggGagggaggatggagtccctga	17	6	0	1			TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr19:9013858G>A	ENST00000397910.4	-	33	38735	c.38532C>T	c.(38530-38532)ctC>ctT	p.L12844L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12846				Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGGGCTGGGGAGGGAGGATG	0.478																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(38530-38532)ctC>ctT		mucin 16, cell surface associated							70	63	66					19																	9013858		1925	4127	6052	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9013858G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38532C>T	19.37:g.9013858G>A							p.L12844L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			33	38735	-			12846	Missing (in Ref. 3; AAK74120).				Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.38532C>T	CCDS54212.1																																																																																				0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		3	23	0	0	0	1	0	3	23					A	9013858	G	A	9013858	2	1	336	1	0	0	0	0	0	0	0	1	9973	1161	41	2		2	MUC16	19	9013858	Silent	SNP	G	TCGA-EM-A3ST-01A-11D-A22Z-08		9013858	50115125	24	7181											
CC2D1A	54862	broad.mit.edu	37	chr19	14024093	14024093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagacagcgccaagatgcGgcgctacgatcgggggctta	16	10	0	2	rs369479851		TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr19:14024093G>A	ENST00000318003.7	+	5	732	c.491G>A	c.(490-492)cGg>cAg	p.R164Q	CC2D1A_ENST00000589606.1_Missense_Mutation_p.R164Q	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	164					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GCCAAGATGCGGCGCTACGAT	0.622																																						ENST00000318003.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27						c.(490-492)cGg>cAg		coiled-coil and C2 domain containing 1A		G	GLN/ARG	0,3982		0,0,1991	26	31	29		491	4.9	1.0	19		29	1,8311		0,1,4155	no	missense	CC2D1A	NM_017721.4	43	0,1,6146	AA,AG,GG		0.012,0.0,0.0081	probably-damaging	164/952	14024093	1,12293	1991	4156	6147	SO:0001583	missense	54862				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	g.chr19:14024093G>A	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"mental retardation, nonsyndromic, autosomal recessive, 3"	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.491G>A	19.37:g.14024093G>A	ENSP00000313601:p.Arg164Gln					CC2D1A_ENST00000589606.1_Missense_Mutation_p.R164Q	p.R164Q	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		5	732	+			164					Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	ENST00000318003.7	37	c.491G>A	CCDS42512.1	.	.	.	.	.	.	.	.	.	.	G	34	5.398794	0.96030	0.0	1.2E-4	ENSG00000132024	ENST00000318003;ENST00000254346;ENST00000389233	T	0.28454	1.61	4.91	4.91	0.64330	Domain of unknown function DM14 (1);	0.197786	0.41097	D	0.000944	T	0.60117	0.2244	M	0.84082	2.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.66412	-0.5930	10	0.87932	D	0	-23.5176	17.0205	0.86432	0.0:0.0:1.0:0.0	.	164;164	Q6P1N0-2;Q6P1N0	.;C2D1A_HUMAN	Q	164;2;139	ENSP00000313601:R164Q	ENSP00000254346:R2Q	R	+	2	0	CC2D1A	13885093	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	7.544000	0.82117	2.551000	0.86045	0.561000	0.74099	CGG		0.622	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		15	31	0	0	0	1	0	15	31					A	14024093	G	A	14024093	3	1	336	1	0	0	0	0	1	0	0	0	2726	1116	39	1	509	1	CC2D1A	19	14024093	Missense_Mutation	SNP	G	TCGA-EM-A3ST-01A-11D-A22Z-08	5010235	14024093	45104890	25	7182											
APOBEC3C	27350	broad.mit.edu	37	chr22	39414360	39414360	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taaaaaccaactttcgacttCtgaaaagaaggctacgggag	9	8	1	2			TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr22:39414360C>T	ENST00000361441.4	+	4	821	c.541C>T	c.(541-543)Ctg>Ttg	p.L181L	APOBEC3D_ENST00000381568.4_Intron|APOBEC3D_ENST00000216099.8_5'Flank	NM_014508.2	NP_055323.2	Q9NRW3	ABC3C_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C	181					cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	Melanoma(58;0.04)					CTTTCGACTTCTGAAAAGAAG	0.473																																						ENST00000361441.3																			0				endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6						c.(541-543)Ctg>Ttg		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C							157	168	164					22																	39414360		2203	4300	6503	SO:0001819	synonymous_variant	27350				DNA demethylation|interspecies interaction between organisms|negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|protein binding|zinc ion binding	g.chr22:39414360C>T	AF165520	CCDS13983.1	22q13.1-q13.2	2014-01-28			ENSG00000244509	ENSG00000244509		"Apolipoprotein B mRNA editing enzymes"	17353	protein-coding gene	gene with protein product		607750				11863358	Standard	NM_014508		Approved	APOBEC1L, PBI, bK150C2.3, ARDC2, ARDC4, ARP5	uc003awr.3	Q9NRW3	OTTHUMG00000151087	ENST00000361441.4:c.541C>T	22.37:g.39414360C>T						APOBEC3D_ENST00000381568.4_Intron	p.L181L	NM_014508.2	NP_055323.2	Q9NRW3	ABC3C_HUMAN			4	821	+	Melanoma(58;0.04)		181					B2R884|Q5JZ92|Q7Z2N7|Q96F12	Silent	SNP	ENST00000361441.4	37	c.541C>T	CCDS13983.1																																																																																				0.473	APOBEC3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321241.2	NM_014508		80	123	0	0	0	1	0	80	123					T	39414360	C	T	39414360	2	4	336	1	0	0	0	0	0	0	0	1	791	912	32	2		2	APOBEC3C	22	39414360	Silent	SNP	C	TCGA-EM-A3ST-01A-11D-A22Z-08		39414360	11890206	26	7183											
FAM116B	414918	broad.mit.edu	37	chr22	50751471	50751471	+	Frame_Shift_Del	DEL	G	G	-													cttgaggatgcaggtgagctGgggcccagcatgctccaggc							TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr22:50751471delG	ENST00000413817.3	-	17	1485	c.1414delC	c.(1414-1416)cagfs	p.Q472fs	XX-C283C717.1_ENST00000453835.1_RNA	NM_001001794.3	NP_001001794.3	Q8NEG7	DEN6B_HUMAN	DENN/MADD domain containing 6B	472					positive regulation of Rab GTPase activity (GO:0032851)	endosome (GO:0005768)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										CAGGTGAGCTGGGGCCCAGCA	0.647																																						ENST00000413817.2																			0											c.(1414-1416)agfs		DENN/MADD domain containing 6B							20	24	23					22																	50751471		2094	4181	6275	SO:0001589	frameshift_variant	414918							g.chr22:50751471delG	AK054743	CCDS46732.1	22q13.33	2012-10-03	2012-10-03	2012-10-03	ENSG00000205593	ENSG00000205593		"DENN/MADD domain containing"	32690	protein-coding gene	gene with protein product			"family with sequence similarity 116, member B"	FAM116B		21330364	Standard	NM_001001794		Approved	MGC33692, AFI1B	uc011arv.1	Q8NEG7	OTTHUMG00000150210	ENST00000413817.3:c.1414delC	22.37:g.50751471delG	ENSP00000391524:p.Gln472fs						p.Q472fs	NM_001001794.3	NP_001001794.3					17	1485	-								A6X8I5	Frame_Shift_Del	DEL	ENST00000413817.3	37	c.1414delC	CCDS46732.1																																																																																				0.647	DENND6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316845.3	NM_001001794		2	4						2	4	---	---	---	---	-	50751471	G	-	50751471	7	5	336	1	0	1	0	1	0	0	0	0	5408	1357	47	0	359	0	FAM116B	22	50751471	Frame_Shift_Del	DEL	G	TCGA-EM-A3ST-01A-11D-A22Z-08	11337111	50751471	553095	27	7184											
EIF1AX	1964	broad.mit.edu	37	chrX	20148692	20148692	+	Missense_Mutation	SNP	C	C	A													actgaatttcatcatcatctCcaggaccaaatgtatcagtt							TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chrX:20148692C>A	ENST00000379607.5	-	6	574	c.371G>T	c.(370-372)gGa>gTa	p.G124V	EIF1AX_ENST00000379593.1_Missense_Mutation_p.G96V	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	124					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						ATCATCATCTCCAGGACCAAA	0.328																																						ENST00000379607.5																			0				endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.(370-372)gGa>gTa		eukaryotic translation initiation factor 1A, X-linked							167	134	145					X																	20148692		2203	4297	6500	SO:0001583	missense	1964					cytosol	translation initiation factor activity	g.chrX:20148692C>A	L18960	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674			3250	protein-coding gene	gene with protein product		300186	"eukaryotic translation initiation factor 1A, X chromosome"	EIF4C, EIF1A		8106356, 9381176	Standard	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.371G>T	X.37:g.20148692C>A	ENSP00000368927:p.Gly124Val					EIF1AX_ENST00000379593.1_Missense_Mutation_p.G96V	p.G124V	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN			6	574	-			124					B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Missense_Mutation	SNP	ENST00000379607.5	37	c.371G>T	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831345	0.50845	.	.	ENSG00000173674	ENST00000379607;ENST00000379593	T;T	0.43688	0.94;0.94	4.82	4.82	0.62117	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.43433	0.1247	L	0.50333	1.59	0.80722	D	1	B	0.28512	0.214	B	0.34301	0.179	T	0.35301	-0.9794	9	0.36615	T	0.2	-34.5406	17.1436	0.86760	0.0:1.0:0.0:0.0	.	124	P47813	IF1AX_HUMAN	V	124;96	ENSP00000368927:G124V;ENSP00000368912:G96V	ENSP00000368912:G96V	G	-	2	0	EIF1AX	20058613	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.399000	0.66314	1.967000	0.57214	0.594000	0.82650	GGA		0.328	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1			22	43	1	0	1.50039e-11	1	1.58865e-11	22	43					A	20148692	C	A	20148692	3	1	336	1	0	0	0	0	1	0	0	0	4992	855	30	4	71	4	EIF1AX	23	20148692	Missense_Mutation	SNP	C	TCGA-EM-A3ST-01A-11D-A22Z-08		20148692	135121868	28	7185	39	2									
EIF1AX	1964	broad.mit.edu	37	chrX	20148693	20148693	+	Nonsense_Mutation	SNP	C	C	A													ctgaatttcatcatcatctcCaggaccaaatgtatcagttt							TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chrX:20148693C>A	ENST00000379607.5	-	6	573	c.370G>T	c.(370-372)Gga>Tga	p.G124*	EIF1AX_ENST00000379593.1_Nonsense_Mutation_p.G96*	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	124					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						TCATCATCTCCAGGACCAAAT	0.323																																						ENST00000379607.5																			0				endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.(370-372)Gga>Tga		eukaryotic translation initiation factor 1A, X-linked							165	132	143					X																	20148693		2203	4297	6500	SO:0001587	stop_gained	1964					cytosol	translation initiation factor activity	g.chrX:20148693C>A	L18960	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674			3250	protein-coding gene	gene with protein product		300186	"eukaryotic translation initiation factor 1A, X chromosome"	EIF4C, EIF1A		8106356, 9381176	Standard	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.370G>T	X.37:g.20148693C>A	ENSP00000368927:p.Gly124*					EIF1AX_ENST00000379593.1_Nonsense_Mutation_p.G96*	p.G124*	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN			6	573	-			124					B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Nonsense_Mutation	SNP	ENST00000379607.5	37	c.370G>T	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	C	37	6.159454	0.97334	.	.	ENSG00000173674	ENST00000379607;ENST00000379593	.	.	.	4.82	3.94	0.45596	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-34.5406	12.7015	0.57035	0.0:0.9161:0.0:0.0839	.	.	.	.	X	124;96	.	ENSP00000368912:G96X	G	-	1	0	EIF1AX	20058614	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.087000	0.76893	1.967000	0.57214	0.594000	0.82650	GGA		0.323	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1			21	43	1	0	7.45023e-12	1	8.12752e-12	21	43					A	20148693	C	A	20148693	4	1	336	1	0	0	0	0	0	1	0	0	4992	603	21	4	72	4	EIF1AX	23	20148693	Nonsense_Mutation	SNP	C	TCGA-EM-A3ST-01A-11D-A22Z-08	1	20148693	135121867	29	7186	39	2									
ACRC	93953	broad.mit.edu	37	chrX	70823900	70823900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcggaagctcccgacgacaGcagtgatgattcggaagctc	12	11	0	2			TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chrX:70823900G>A	ENST00000373695.1	+	7	1310	c.773G>A	c.(772-774)aGc>aAc	p.S258N	ACRC_ENST00000373696.3_Missense_Mutation_p.S258N			Q96QF7	ACRC_HUMAN	acidic repeat containing	258	Asp/Ser-rich.					nucleus (GO:0005634)		p.S258N(2)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CCCGACGACAGCAGTGATGAT	0.557																																						ENST00000373695.1																			2	Substitution - Missense(2)	p.S258N(2)	endometrium(2)	autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(772-774)aGc>aAc		acidic repeat containing							19	18	19					X																	70823900		1511	3123	4634	SO:0001583	missense	93953					nucleus		g.chrX:70823900G>A	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.773G>A	X.37:g.70823900G>A	ENSP00000362799:p.Ser258Asn					ACRC_ENST00000373696.3_Missense_Mutation_p.S258N	p.S258N			Q96QF7	ACRC_HUMAN			7	1310	+	Renal(35;0.156)		258			Asp/Ser-rich.		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.773G>A	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	g	0.024	-1.390008	0.01185	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.32023	1.47;1.47	0.14	-0.28	0.12886	.	.	.	.	.	T	0.10766	0.0263	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33007	-0.9885	9	0.14656	T	0.56	.	4.7735	0.13167	0.3324:0.0:0.6676:0.0	.	258	Q96QF7	ACRC_HUMAN	N	258	ENSP00000362800:S258N;ENSP00000362799:S258N	ENSP00000362799:S258N	S	+	2	0	ACRC	70740625	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	-0.205000	0.09411	-1.206000	0.02641	-1.198000	0.01671	AGC		0.557	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			4	123	0	0	0	1	0	4	123					A	70823900	G	A	70823900	3	1	336	1	0	0	0	0	1	0	0	0	171	971	34	2	799	2	ACRC	23	70823900	Missense_Mutation	SNP	G	TCGA-EM-A3ST-01A-11D-A22Z-08	50675207	70823900	84446660	30	7187											
CSRNP1	64651	broad.mit.edu	37	chr3	39185421	39185421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgttccaactgcaggcGggtgagtgtgtggatgaaat	14	8	0	2			TCGA-EM-A3SU-01A-11D-A22Z-08	TCGA-EM-A3SU-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	598f5833-ab0a-4167-9c12-80573a106ea8	1ef6114a-a3ca-4992-9510-4209bfd07727	g.chr3:39185421G>A	ENST00000273153.5	-	5	1072	c.895C>T	c.(895-897)Cgc>Tgc	p.R299C	CSRNP1_ENST00000514182.1_Missense_Mutation_p.R299C	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	299					apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	nucleus (GO:0005634)	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						AACTGCAGGCGGGTGAGTGTG	0.607																																						ENST00000273153.5																			0				central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						c.(895-897)Cgc>Tgc		cysteine-serine-rich nuclear protein 1							40	39	39					3																	39185421		2203	4300	6503	SO:0001583	missense	64651				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:39185421G>A	AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"AXIN1 up-regulated 1"	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.895C>T	3.37:g.39185421G>A	ENSP00000273153:p.Arg299Cys					CSRNP1_ENST00000514182.1_Missense_Mutation_p.R299C	p.R299C	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN			5	1072	-			299					Q69YY5	Missense_Mutation	SNP	ENST00000273153.5	37	c.895C>T	CCDS2682.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705170	0.68615	.	.	ENSG00000144655	ENST00000273153;ENST00000514182	T;T	0.15718	2.4;2.4	4.46	3.51	0.40186	.	0.266108	0.34435	N	0.003975	T	0.34774	0.0909	M	0.76838	2.35	0.58432	D	0.999997	D	0.76494	0.999	P	0.59288	0.855	T	0.14282	-1.0478	10	0.87932	D	0	-29.1159	10.2687	0.43470	0.0:0.0:0.6141:0.3859	.	299	Q96S65	CSRN1_HUMAN	C	299	ENSP00000273153:R299C;ENSP00000422532:R299C	ENSP00000273153:R299C	R	-	1	0	CSRNP1	39160425	0.996000	0.38824	1.000000	0.80357	0.981000	0.71138	0.923000	0.28757	2.466000	0.83321	0.549000	0.68633	CGC		0.607	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254061.1	NM_033027		3	26	0	0	0	1	0	3	26					A	39185421	G	A	39185421	3	1	337	1	0	0	0	0	1	0	0	0	3963	1116	39	1	878	1	CSRNP1	3	39185421	Missense_Mutation	SNP	G	TCGA-EM-A3SU-01A-11D-A22Z-08		39185421	158837009	1	7188											
COL6A6	131873	broad.mit.edu	37	chr3	130394186	130394186	+	Frame_Shift_Del	DEL	C	C	-													aaattttatgagaagcacctCccatacctttaagaatggaa							TCGA-EM-A3SU-01A-11D-A22Z-08	TCGA-EM-A3SU-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	598f5833-ab0a-4167-9c12-80573a106ea8	1ef6114a-a3ca-4992-9510-4209bfd07727	g.chr3:130394186delC	ENST00000358511.6	+	36	6768	c.6737delC	c.(6736-6738)tccfs	p.S2246fs	COL6A6_ENST00000453409.2_Frame_Shift_Del_p.S2246fs	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	2246	Nonhelical 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						AGAAGCACCTCCCATACCTTT	0.348																																						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.(6736-6738)tcfs		collagen, type VI, alpha 6							50	46	47					3																	130394186		1872	4106	5978	SO:0001589	frameshift_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130394186delC	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.6737delC	3.37:g.130394186delC	ENSP00000351310:p.Ser2246fs					COL6A6_ENST00000453409.2_Frame_Shift_Del_p.S2246fs	p.S2246fs	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			36	6768	+			2246			Nonhelical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Frame_Shift_Del	DEL	ENST00000358511.6	37	c.6737delC	CCDS46911.1																																																																																				0.348	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		2	4						2	4	---	---	---	---	-	130394186	C	-	130394186	7	5	337	1	0	1	0	1	0	0	0	0	3703	855	30	0	6879	0	COL6A6	3	130394186	Frame_Shift_Del	DEL	C	TCGA-EM-A3SU-01A-11D-A22Z-08	91208765	130394186	67628244	2	7189											
NMD3	51068	broad.mit.edu	37	chr3	160967245	160967245	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatatttatcttgcaggtaTtaatcaagaagagctatgac	7	5	2	3			TCGA-EM-A3SU-01A-11D-A22Z-08	TCGA-EM-A3SU-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	598f5833-ab0a-4167-9c12-80573a106ea8	1ef6114a-a3ca-4992-9510-4209bfd07727	g.chr3:160967245T>G	ENST00000460469.1	+	13	1662	c.1207T>G	c.(1207-1209)Tta>Gta	p.L403V	NMD3_ENST00000472947.1_Missense_Mutation_p.L403V|NMD3_ENST00000351193.2_Missense_Mutation_p.L403V			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	403					protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			CTTGCAGGTATTAATCAAGAA	0.363																																						ENST00000460469.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25						c.(1207-1209)Tta>Gta		NMD3 ribosome export adaptor							58	58	58					3																	160967245		2203	4300	6503	SO:0001583	missense	51068				protein transport	cytoplasm|nucleolus|nucleoplasm		g.chr3:160967245T>G	BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"NMD3 homolog (S. cerevisiae)"			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.1207T>G	3.37:g.160967245T>G	ENSP00000419004:p.Leu403Val					NMD3_ENST00000472947.1_Missense_Mutation_p.L403V|NMD3_ENST00000351193.2_Missense_Mutation_p.L403V	p.L403V			Q96D46	NMD3_HUMAN	Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)		13	1662	+			403					D3DNM7|Q9Y2Z6	Missense_Mutation	SNP	ENST00000460469.1	37	c.1207T>G	CCDS3194.1	.	.	.	.	.	.	.	.	.	.	T	12.56	1.975475	0.34848	.	.	ENSG00000169251	ENST00000351193;ENST00000472947;ENST00000460469;ENST00000540137	T;T;T	0.26067	1.76;1.76;1.76	4.84	1.1	0.20463	.	0.078628	0.53938	D	0.000056	T	0.51278	0.1665	M	0.93375	3.41	0.44227	D	0.997061	D;D;P	0.63046	0.977;0.992;0.908	P;P;B	0.58970	0.762;0.849;0.256	T	0.57579	-0.7787	10	0.87932	D	0	-16.2214	9.1722	0.37089	0.0:0.3066:0.0:0.6934	.	403;403;403	B3KT11;C9JA08;Q96D46	.;.;NMD3_HUMAN	V	403;403;403;283	ENSP00000307525:L403V;ENSP00000417559:L403V;ENSP00000419004:L403V	ENSP00000307525:L403V	L	+	1	2	NMD3	162449939	0.775000	0.28604	0.325000	0.25375	0.854000	0.48673	1.182000	0.32029	0.091000	0.17302	0.482000	0.46254	TTA		0.363	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353114.1	NM_015938		3	10	0	0	0	1	0	3	10					G	160967245	T	G	160967245	3	3	337	1	0	0	0	0	1	0	0	0	10488	1490	52	5	1257	5	NMD3	3	160967245	Missense_Mutation	SNP	T	TCGA-EM-A3SU-01A-11D-A22Z-08	30573059	160967245	37055185	3	7190											
LARP7	51574	broad.mit.edu	37	chr4	113565889	113565889	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaagcactgaaaagaaaaaaGaagttgaaaaaaagaaacgg	9	3	0	5	rs570445594	byFrequency	TCGA-EM-A3SU-01A-11D-A22Z-08	TCGA-EM-A3SU-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	598f5833-ab0a-4167-9c12-80573a106ea8	1ef6114a-a3ca-4992-9510-4209bfd07727	g.chr4:113565889G>A	ENST00000344442.5	+	2	342	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	LARP7_ENST00000324052.6_Missense_Mutation_p.E22K|LARP7_ENST00000509061.1_Missense_Mutation_p.E29K|MIR302B_ENST00000505215.1_RNA|MIR302B_ENST00000509938.1_RNA|MIR302B_ENST00000510655.1_RNA	NM_016648.3	NP_057732.2	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	22					RNA processing (GO:0006396)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		AAAGAAAAAAGAAGTTGAAAA	0.353																																						ENST00000509061.1																			0				endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17						c.(85-87)Gaa>Aaa		La ribonucleoprotein domain family, member 7							71	68	69					4																	113565889		1814	4071	5885	SO:0001583	missense	51574				RNA processing	nucleoplasm|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr4:113565889G>A	AF068284	CCDS3701.2, CCDS58924.1	4q25	2013-02-12			ENSG00000174720	ENSG00000174720		"La ribonucleoprotein domain containing", "RNA binding motif (RRM) containing"	24912	protein-coding gene	gene with protein product	"P-TEFb-interaction protein for 7SK stability"	612026				18191186, 18249148, 18281698, 22865833, 22488152	Standard	NM_016648		Approved	HDCMA18P, PIP7S, DKFZP564K112	uc003ibb.4	Q4G0J3	OTTHUMG00000132909	ENST00000344442.5:c.64G>A	4.37:g.113565889G>A	ENSP00000344950:p.Glu22Lys					LARP7_ENST00000344442.5_Missense_Mutation_p.E22K|LARP7_ENST00000324052.6_Missense_Mutation_p.E22K	p.E29K	NM_001267039.1	NP_001253968.1	Q4G0J3	LARP7_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000603)	4	388	+		Ovarian(17;0.0443)|Hepatocellular(203;0.217)	22			HTH La-type RNA-binding.		B2ZHN6|Q3B7A9|Q9P1S7|Q9Y3Z8	Missense_Mutation	SNP	ENST00000344442.5	37	c.85G>A	CCDS3701.2	.	.	.	.	.	.	.	.	.	.	G	19.54	3.846683	0.71603	.	.	ENSG00000174720	ENST00000344442;ENST00000509061;ENST00000508577;ENST00000505034;ENST00000324052;ENST00000507443	T;T;T;T;T;T	0.45276	2.16;2.16;0.9;2.14;2.16;0.92	5.02	5.02	0.67125	.	0.373600	0.32386	N	0.006174	T	0.43986	0.1272	M	0.65975	2.015	0.48830	D	0.999718	B;B	0.26635	0.155;0.155	B;B	0.24155	0.051;0.051	T	0.35748	-0.9776	10	0.23891	T	0.37	-9.5731	18.386	0.90466	0.0:0.0:1.0:0.0	.	22;22	D6RFF0;Q4G0J3	.;LARP7_HUMAN	K	22;29;22;22;22;22	ENSP00000344950:E22K;ENSP00000422626:E29K;ENSP00000426646:E22K;ENSP00000421541:E22K;ENSP00000314311:E22K;ENSP00000421963:E22K	ENSP00000314311:E22K	E	+	1	0	LARP7	113785338	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	9.350000	0.97070	2.303000	0.77524	0.644000	0.83932	GAA		0.353	LARP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256417.2	NM_016648		13	38	0	0	0	1	0	13	38					A	113565889	G	A	113565889	3	1	337	1	0	0	0	0	1	0	0	0	8633	943	33	2	66	2	LARP7	4	113565889	Missense_Mutation	SNP	G	TCGA-EM-A3SU-01A-11D-A22Z-08		113565889	77588387	4	7191											
DDX46	9879	broad.mit.edu	37	chr5	134153187	134153187	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtcttctttaactacaggAtgtgatgcagcaggccacca	9	10	2	1			TCGA-EM-A3SU-01A-11D-A22Z-08	TCGA-EM-A3SU-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	598f5833-ab0a-4167-9c12-80573a106ea8	1ef6114a-a3ca-4992-9510-4209bfd07727	g.chr5:134153187A>G	ENST00000354283.4	+	20	2747	c.2612A>G	c.(2611-2613)gAt>gGt	p.D871G	DDX46_ENST00000452510.2_Splice_Site_p.D872G			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	871					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TAACTACAGGATGTGATGCAG	0.423																																					Colon(13;391 453 4901 21675 24897)	ENST00000452510.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.e20-1		DEAD (Asp-Glu-Ala-Asp) box polypeptide 46							50	49	49					5																	134153187		2203	4300	6503	SO:0001630	splice_region_variant	9879				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr5:134153187A>G		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"DEAD-boxes"	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.2611-1A>G	5.37:g.134153187A>G						DDX46_ENST00000354283.4_Splice_Site_p.D871_splice	p.D872_splice	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		20	2773	+			871					O94894|Q96EI0|Q9Y658	Splice_Site	SNP	ENST00000354283.4	37	c.2613_splice	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	A	14.35	2.510157	0.44660	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	T;T	0.25749	1.78;1.79	5.8	5.8	0.92144	.	0.091642	0.85682	D	0.000000	T	0.23249	0.0562	L	0.39898	1.24	0.80722	D	1	B	0.10296	0.003	B	0.10450	0.005	T	0.05068	-1.0908	10	0.18710	T	0.47	-27.3238	16.1596	0.81693	1.0:0.0:0.0:0.0	.	871	Q7L014	DDX46_HUMAN	G	872;871	ENSP00000416534:D872G;ENSP00000346236:D871G	ENSP00000346236:D871G	D	+	2	0	DDX46	134181086	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.273000	0.95719	2.216000	0.71823	0.533000	0.62120	GAT		0.423	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829	Missense_Mutation	10	17	0	0	0	1	0	10	17					G	134153187	A	G	134153187	5	3	337	1	0	0	0	0	0	0	1	0	4364	347	12	3	2690	3	DDX46	5	134153187	Splice_Site	SNP	A	TCGA-EM-A3SU-01A-11D-A22Z-08		134153187	46762073	5	7192											
PRPF4B	8899	broad.mit.edu	37	chr6	4032325	4032325	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagcagatccaaagaacggActagacataggtctgataaa	9	7	1	4			TCGA-EM-A3SU-01A-11D-A22Z-08	TCGA-EM-A3SU-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	598f5833-ab0a-4167-9c12-80573a106ea8	1ef6114a-a3ca-4992-9510-4209bfd07727	g.chr6:4032325A>G	ENST00000337659.6	+	2	674	c.574A>G	c.(574-576)Act>Gct	p.T192A	PRPF4B_ENST00000538861.1_Missense_Mutation_p.T178A	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	192	Arg/Lys-rich (basic).				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)			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)				CAAAGAACGGACTAGACATAG	0.353																																						ENST00000337659.6																			0				breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22						c.(574-576)Act>Gct		pre-mRNA processing factor 4B							110	124	119					6																	4032325		2202	4300	6502	SO:0001583	missense	8899					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:4032325A>G	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.574A>G	6.37:g.4032325A>G	ENSP00000337194:p.Thr192Ala					PRPF4B_ENST00000538861.1_Missense_Mutation_p.T178A	p.T192A	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN			2	674	+	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	192			Arg/Lys-rich (basic).		A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Missense_Mutation	SNP	ENST00000337659.6	37	c.574A>G	CCDS4488.1	.	.	.	.	.	.	.	.	.	.	A	10.16	1.273433	0.23221	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	T;T	0.66995	-0.24;-0.19	5.44	4.29	0.51040	.	0.152620	0.45867	N	0.000333	T	0.18383	0.0441	N	0.08118	0	0.33973	D	0.647061	B	0.02656	0.0	B	0.04013	0.001	T	0.07520	-1.0768	10	0.06891	T	0.86	.	8.3274	0.32165	0.8489:0.0:0.1511:0.0	.	192	Q13523	PRP4B_HUMAN	A	192;178	ENSP00000337194:T192A;ENSP00000439331:T178A	ENSP00000337194:T192A	T	+	1	0	PRPF4B	3977324	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.850000	0.62889	0.912000	0.36772	0.379000	0.24179	ACT		0.353	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2			6	127	0	0	0	1	0	6	127					G	4032325	A	G	4032325	3	3	337	1	0	0	0	0	1	0	0	0	12573	275	10	3	580	3	PRPF4B	6	4032325	Missense_Mutation	SNP	A	TCGA-EM-A3SU-01A-11D-A22Z-08		4032325	167082742	6	7193											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A3SU-01A-11D-A22Z-08	TCGA-EM-A3SU-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	598f5833-ab0a-4167-9c12-80573a106ea8	1ef6114a-a3ca-4992-9510-4209bfd07727	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		20	43	0	0	0	1	0	20	43					T	140453136	A	T	140453136	3	4	337	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A3SU-01A-11D-A22Z-08		140453136	18685527	7	7194											
RARRES2	5919	broad.mit.edu	37	chr7	150037252	150037252	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccggcagcttgtctgctgCagcttaaattccagcctcac	8	14	2	0			TCGA-EM-A3SU-01A-11D-A22Z-08	TCGA-EM-A3SU-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	598f5833-ab0a-4167-9c12-80573a106ea8	1ef6114a-a3ca-4992-9510-4209bfd07727	g.chr7:150037252C>T	ENST00000466675.1	-	2	1249	c.216G>A	c.(214-216)ctG>ctA	p.L72L	RARRES2_ENST00000482669.1_Silent_p.L72L|RP4-584D14.7_ENST00000563946.1_RNA|RARRES2_ENST00000223271.3_Silent_p.L72L			Q99969	RARR2_HUMAN	retinoic acid receptor responder (tazarotene induced) 2	72					brown fat cell differentiation (GO:0050873)|chemotaxis (GO:0006935)|embryonic digestive tract development (GO:0048566)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|positive regulation of chemotaxis (GO:0050921)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of protein phosphorylation (GO:0001934)|regulation of lipid catabolic process (GO:0050994)|retinoid metabolic process (GO:0001523)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			TTGTCTGCTGCAGCTTAAATT	0.587																																						ENST00000466675.1																			0				endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)	5						c.(214-216)ctG>ctA		retinoic acid receptor responder (tazarotene induced) 2							271	286	281					7																	150037252		2203	4300	6503	SO:0001819	synonymous_variant	0				embryonic digestive tract development|in utero embryonic development|positive regulation of macrophage chemotaxis|retinoid metabolic process	extracellular matrix	receptor binding	g.chr7:150037252C>T	U77594	CCDS5902.1	7q36.1	2013-02-25			ENSG00000106538	ENSG00000106538		"Endogenous ligands"	9868	protein-coding gene	gene with protein product	"chemerin"	601973				9270552, 17767914	Standard	NM_002889		Approved	TIG2, HP10433	uc003wha.3	Q99969	OTTHUMG00000158325	ENST00000466675.1:c.216G>A	7.37:g.150037252C>T						RARRES2_ENST00000223271.3_Silent_p.L72L|RARRES2_ENST00000482669.1_Silent_p.L72L	p.L72L			Q99969	RARR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		2	1249	-			72					Q7LE02	Silent	SNP	ENST00000466675.1	37	c.216G>A	CCDS5902.1																																																																																				0.587	RARRES2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350693.1			19	427	0	0	0	1	0	19	427					T	150037252	C	T	150037252	2	4	337	1	0	0	0	0	0	0	0	1	13056	697	25	2		2	RARRES2	7	150037252	Silent	SNP	C	TCGA-EM-A3SU-01A-11D-A22Z-08	9584116	150037252	9101411	8	7195											
PDSS1	23590	broad.mit.edu	37	chr10	26994255	26994255	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acagtaaaacacacagtggtGaaaaatacaccgatcctttc	6	10	0	1			TCGA-EM-A3SU-01A-11D-A22Z-08	TCGA-EM-A3SU-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	598f5833-ab0a-4167-9c12-80573a106ea8	1ef6114a-a3ca-4992-9510-4209bfd07727	g.chr10:26994255G>A	ENST00000376215.5	+	4	321	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K	PDSS1_ENST00000376203.5_Missense_Mutation_p.E90K	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	90					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						ACACAGTGGTGAAAAATACAC	0.363																																						ENST00000376215.5																			0				autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						c.(268-270)Gaa>Aaa		prenyl (decaprenyl) diphosphate synthase, subunit 1							80	73	75					10																	26994255		2203	4300	6503	SO:0001583	missense	23590				isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity	g.chr10:26994255G>A	AF118395	CCDS31168.1	10p12.2	2006-04-12	2006-02-14	2006-02-14	ENSG00000148459	ENSG00000148459			17759	protein-coding gene	gene with protein product	"coenzyme Q1 homolog (yeast)"	607429	"trans-prenyltransferase"	TPRT		10972372	Standard	NM_014317		Approved	TPT, COQ1	uc001isv.3	Q5T2R2	OTTHUMG00000017844	ENST00000376215.5:c.268G>A	10.37:g.26994255G>A	ENSP00000365388:p.Glu90Lys					PDSS1_ENST00000376203.5_Missense_Mutation_p.E90K	p.E90K	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN			4	321	+			90					Q53F75|Q6P473|Q86WQ8|Q9Y2W5	Missense_Mutation	SNP	ENST00000376215.5	37	c.268G>A	CCDS31168.1	.	.	.	.	.	.	.	.	.	.	G	33	5.222598	0.95139	.	.	ENSG00000148459	ENST00000376215;ENST00000376203;ENST00000396343	D	0.83250	-1.7	5.33	5.33	0.75918	Terpenoid synthase (1);	0.173333	0.49916	D	0.000121	D	0.88332	0.6408	L	0.59436	1.845	0.49582	D	0.999801	D;P	0.62365	0.991;0.572	P;B	0.59424	0.857;0.052	D	0.89211	0.3564	10	0.66056	D	0.02	-13.5851	17.7749	0.88504	0.0:0.0:1.0:0.0	.	90;90	Q5T2R2-2;Q5T2R2	.;DPS1_HUMAN	K	90;90;51	ENSP00000365388:E90K	ENSP00000365376:E90K	E	+	1	0	PDSS1	27034261	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	4.668000	0.61568	2.470000	0.83445	0.650000	0.86243	GAA		0.363	PDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047276.1			5	25	0	0	0	1	0	5	25					A	26994255	G	A	26994255	3	1	337	1	0	0	0	0	1	0	0	0	11693	1291	45	2	282	2	PDSS1	10	26994255	Missense_Mutation	SNP	G	TCGA-EM-A3SU-01A-11D-A22Z-08		26994255	108540492	9	7196											
EMG1	10436	broad.mit.edu	37	chr12	7080210	7080211	+	Splice_Site	INS	-	-	G													aaacaagatcggaggccgtaINSgtttattgtggtgctggaag					rs60117710|rs374779752|rs200041551		TCGA-EM-A3SU-01A-11D-A22Z-08	TCGA-EM-A3SU-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	598f5833-ab0a-4167-9c12-80573a106ea8	1ef6114a-a3ca-4992-9510-4209bfd07727	g.chr12:7080210_7080211insG	ENST00000261406.6	+	2	266		c.e2-1		PHB2_ENST00000546111.1_5'Flank|EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000544134.1_5'Flank|PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000535923.1_5'Flank|PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000542912.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		CGGAGGCCGTAGTTTATTGTGG	0.569													GG|G|GG|deletion	5008	1	1	1	5008	,	,		18008	1		1	False		,,,				2504	1					ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3732,16		1865,2,7						3.0	1.0		dbSNP_129	28	7880,30		3934,12,9	no	frameshift	EMG1	NM_006331.7		5799,14,16	A1A1,A1R,RR		0.3793,0.4269,0.3946				11612,46				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080210_7080211insG	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"EMG1 nucleolar protein homolog (S. cerevisiae)"			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->G	12.37:g.7080211_7080211dupG						U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA				Q92979	NEP1_HUMAN			0	155_156	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Intron	4	9						4	9	---	---	---	---	G	7080211	-	G	7080210	8	5	337	1	0	1	1	0	0	0	1	0	5090	420	15	0	126	0	EMG1	12	7080210	Splice_Site	INS	-	TCGA-EM-A3SU-01A-11D-A22Z-08		7080210	126771685	10	7197											
SACS	26278	broad.mit.edu	37	chr13	23913960	23913960	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagatgaagattttgtttgCtttcttgttcactgagatct	8	5	3	4			TCGA-EM-A3SU-01A-11D-A22Z-08	TCGA-EM-A3SU-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	598f5833-ab0a-4167-9c12-80573a106ea8	1ef6114a-a3ca-4992-9510-4209bfd07727	g.chr13:23913960C>T	ENST00000382292.3	-	9	4328	c.4055G>A	c.(4054-4056)aGc>aAc	p.S1352N	SACS_ENST00000382298.3_Missense_Mutation_p.S1352N|SACS_ENST00000402364.1_Missense_Mutation_p.S602N			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1352					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATTTTGTTTGCTTTCTTGTTC	0.368																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(4054-4056)aGc>aAc		spastic ataxia of Charlevoix-Saguenay (sacsin)							131	118	123					13																	23913960		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23913960C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.4055G>A	13.37:g.23913960C>T	ENSP00000371729:p.Ser1352Asn					SACS_ENST00000402364.1_Missense_Mutation_p.S602N|SACS_ENST00000382292.3_Missense_Mutation_p.S1352N	p.S1352N	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	4643	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1352					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.4055G>A	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	15.44	2.833562	0.50951	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.93859	-3.3;-3.3;-3.3	6.06	6.06	0.98353	.	0.039506	0.85682	D	0.000000	D	0.92322	0.7564	L	0.34521	1.04	0.40981	D	0.98477	D	0.54601	0.967	P	0.53102	0.718	D	0.91968	0.5584	10	0.46703	T	0.11	.	13.774	0.63041	0.0:0.9304:0.0:0.0696	.	1352	Q9NZJ4	SACS_HUMAN	N	1352;602;1352	ENSP00000371729:S1352N;ENSP00000385844:S602N;ENSP00000371735:S1352N	ENSP00000371729:S1352N	S	-	2	0	SACS	22811960	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.696000	0.61774	2.879000	0.98667	0.650000	0.86243	AGC		0.368	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		5	44	0	0	0	1	0	5	44					T	23913960	C	T	23913960	3	4	337	1	0	0	0	0	1	0	0	0	13804	797	28	2	9688	2	SACS	13	23913960	Missense_Mutation	SNP	C	TCGA-EM-A3SU-01A-11D-A22Z-08		23913960	91255918	11	7198											
IRS2	8660	broad.mit.edu	37	chr13	110436139	110436139	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcagcttgccatctgcatgCtccatggacagcttggaacc	10	13	1	0			TCGA-EM-A3SU-01A-11D-A22Z-08	TCGA-EM-A3SU-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	598f5833-ab0a-4167-9c12-80573a106ea8	1ef6114a-a3ca-4992-9510-4209bfd07727	g.chr13:110436139C>A	ENST00000375856.3	-	1	2776	c.2262G>T	c.(2260-2262)gaG>gaT	p.E754D		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	754					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			CATCTGCATGCTCCATGGACA	0.687																																					Melanoma(100;613 2409 40847)	ENST00000375856.3																			0				kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19						c.(2260-2262)gaG>gaT		insulin receptor substrate 2							25	15	18					13																	110436139		2092	4118	6210	SO:0001583	missense	8660				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	g.chr13:110436139C>A	AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"Pleckstrin homology (PH) domain containing"	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.2262G>T	13.37:g.110436139C>A	ENSP00000365016:p.Glu754Asp						p.E754D	NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)		1	2776	-	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	754					Q96RR2|Q9BZG0|Q9Y6I5	Missense_Mutation	SNP	ENST00000375856.3	37	c.2262G>T	CCDS9510.1	.	.	.	.	.	.	.	.	.	.	C	5.850	0.340944	0.11069	.	.	ENSG00000185950	ENST00000375856	T	0.19250	2.16	4.06	1.29	0.21616	.	0.143697	0.46442	D	0.000285	T	0.15912	0.0383	L	0.52905	1.665	0.32297	N	0.565467	B	0.24963	0.115	B	0.22386	0.039	T	0.08289	-1.0729	10	0.34782	T	0.22	-17.7654	4.5353	0.12026	0.1515:0.5936:0.0:0.2549	.	754	Q9Y4H2	IRS2_HUMAN	D	754	ENSP00000365016:E754D	ENSP00000365016:E754D	E	-	3	2	IRS2	109234140	0.895000	0.30542	0.465000	0.27155	0.014000	0.08584	-0.036000	0.12185	0.385000	0.24970	-0.275000	0.10095	GAG		0.687	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	NM_003749		3	5	1	0	0.115264	1	0.115264	3	5					A	110436139	C	A	110436139	3	1	337	1	0	0	0	0	1	0	0	0	7841	796	28	4	1762	4	IRS2	13	110436139	Missense_Mutation	SNP	C	TCGA-EM-A3SU-01A-11D-A22Z-08	86522179	110436139	4733739	12	7199											
CILP	8483	broad.mit.edu	37	chr15	65490925	65490925	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccgacgaagcatcttgatttCatggaacacggcactcccct	8	14	2	1			TCGA-EM-A3SU-01A-11D-A22Z-08	TCGA-EM-A3SU-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	598f5833-ab0a-4167-9c12-80573a106ea8	1ef6114a-a3ca-4992-9510-4209bfd07727	g.chr15:65490925C>T	ENST00000261883.4	-	9	1865	c.1699G>A	c.(1699-1701)Gaa>Aaa	p.E567K		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	567					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						ATCTTGATTTCATGGAACACG	0.517																																						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.(1699-1701)Gaa>Aaa		cartilage intermediate layer protein, nucleotide pyrophosphohydrolase							73	66	68					15																	65490925		2202	4299	6501	SO:0001583	missense	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65490925C>T	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.1699G>A	15.37:g.65490925C>T	ENSP00000261883:p.Glu567Lys						p.E567K	NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN			9	1865	-			567					B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.1699G>A	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.605809	0.66445	.	.	ENSG00000138615	ENST00000261883	T	0.49720	0.77	5.63	5.63	0.86233	.	0.045955	0.85682	D	0.000000	T	0.58793	0.2147	M	0.68952	2.095	0.80722	D	1	D	0.53885	0.963	P	0.50082	0.63	T	0.60172	-0.7315	10	0.49607	T	0.09	-10.3916	18.6978	0.91607	0.0:1.0:0.0:0.0	.	567	O75339	CILP1_HUMAN	K	567	ENSP00000261883:E567K	ENSP00000261883:E567K	E	-	1	0	CILP	63277978	1.000000	0.71417	0.989000	0.46669	0.562000	0.35680	7.814000	0.86154	2.652000	0.90054	0.655000	0.94253	GAA		0.517	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		6	58	0	0	0	1	0	6	58					T	65490925	C	T	65490925	3	4	337	1	0	0	0	0	1	0	0	0	3429	835	29	2	1859	2	CILP	15	65490925	Missense_Mutation	SNP	C	TCGA-EM-A3SU-01A-11D-A22Z-08		65490925	37040467	13	7200											
SEPT12	124404	broad.mit.edu	37	chr16	4834039	4834039	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggtactgctcgtattgCtcgttgatgtagcccaggat	12	9	0	1			TCGA-EM-A3SU-01A-11D-A22Z-08	TCGA-EM-A3SU-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	598f5833-ab0a-4167-9c12-80573a106ea8	1ef6114a-a3ca-4992-9510-4209bfd07727	g.chr16:4834039C>T	ENST00000268231.8	-	5	668	c.405G>A	c.(403-405)gaG>gaA	p.E135E	SEPT12_ENST00000591861.1_5'Flank|SEPT12_ENST00000396693.5_Intron	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	135	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cleavage furrow (GO:0032154)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|sperm annulus (GO:0097227)|spindle (GO:0005819)|stress fiber (GO:0001725)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						GCTCGTATTGCTCGTTGATGT	0.627																																						ENST00000268231.8																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						c.(403-405)gaG>gaA		septin 12							185	162	170					16																	4834039		2197	4300	6497	SO:0001819	synonymous_variant	124404				cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity	g.chr16:4834039C>T	AK058139	CCDS10522.1, CCDS53987.1	16p13.3	2013-01-21			ENSG00000140623	ENSG00000140623		"Septins"	26348	protein-coding gene	gene with protein product		611562				14611653, 15915442	Standard	NM_001154458		Approved	FLJ25410	uc002cxq.3	Q8IYM1	OTTHUMG00000129481	ENST00000268231.8:c.405G>A	16.37:g.4834039C>T						SEPT12_ENST00000396693.5_Intron	p.E135E	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN			5	668	-			135					Q0P6B0|Q1PBH0|Q96LL0	Silent	SNP	ENST00000268231.8	37	c.405G>A	CCDS10522.1																																																																																				0.627	SEPT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251645.2	NM_144605		32	75	0	0	0	1	0	32	75					T	4834039	C	T	4834039	2	4	337	1	0	0	0	0	0	0	0	1	14062	796	28	2		2	SEPT12	16	4834039	Silent	SNP	C	TCGA-EM-A3SU-01A-11D-A22Z-08		4834039	85520714	14	7201											
CAPNS2	84290	broad.mit.edu	37	chr16	55601279	55601279	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctaatgaagatggagataTggattttaacaatttcatca	8	4	2	3	rs567078741		TCGA-EM-A3SU-01A-11D-A22Z-08	TCGA-EM-A3SU-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	598f5833-ab0a-4167-9c12-80573a106ea8	1ef6114a-a3ca-4992-9510-4209bfd07727	g.chr16:55601279T>C	ENST00000457326.2	+	1	696	c.611T>C	c.(610-612)aTg>aCg	p.M204T	LPCAT2_ENST00000565056.1_Intron|LPCAT2_ENST00000262134.5_Intron	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN	calpain, small subunit 2	204	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						GATGGAGATATGGATTTTAAC	0.478													T|||	1	0.000199681	0	0	5008	,	,		20408	0.001		0	False		,,,				2504	0					ENST00000457326.2																			0				central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						c.(610-612)aTg>aCg		calpain, small subunit 2							189	186	187					16																	55601279		1954	4158	6112	SO:0001583	missense	84290					cytoplasm|plasma membrane	calcium ion binding	g.chr16:55601279T>C	AY052551	CCDS54010.1	16q12.2	2013-01-10						"EF-hand domain containing"	16371	protein-coding gene	gene with protein product						11853546	Standard	NM_032330		Approved	MGC12536, MGC14804	uc002eid.1	Q96L46		ENST00000457326.2:c.611T>C	16.37:g.55601279T>C	ENSP00000400882:p.Met204Thr					LPCAT2_ENST00000565056.1_Intron|LPCAT2_ENST00000262134.5_Intron	p.M204T	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN			1	696	+			204			EF-hand 3.		Q9BPV4	Missense_Mutation	SNP	ENST00000457326.2	37	c.611T>C	CCDS54010.1	.	.	.	.	.	.	.	.	.	.	T	17.08	3.298276	0.60195	.	.	ENSG00000256812	ENST00000457326	T	0.46819	0.86	5.98	5.98	0.97165	EF-hand-like domain (1);	.	.	.	.	T	0.63414	0.2509	M	0.78801	2.425	0.58432	D	0.999993	P	0.51537	0.946	P	0.52481	0.7	T	0.68693	-0.5341	9	0.87932	D	0	.	16.4781	0.84144	0.0:0.0:0.0:1.0	.	204	Q96L46	CPNS2_HUMAN	T	204	ENSP00000400882:M204T	ENSP00000400882:M204T	M	+	2	0	CAPNS2	54158780	1.000000	0.71417	0.996000	0.52242	0.275000	0.26752	7.698000	0.84413	2.288000	0.76882	0.528000	0.53228	ATG		0.478	CAPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396391.1	NM_032330		5	169	0	0	0	1	0	5	169					C	55601279	T	C	55601279	3	2	337	1	0	0	0	0	1	0	0	0	2634	1464	51	3	613	3	CAPNS2	16	55601279	Missense_Mutation	SNP	T	TCGA-EM-A3SU-01A-11D-A22Z-08	50767240	55601279	34753474	15	7202											
CCT6B	10693	broad.mit.edu	37	chr17	33279009	33279009	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgcttcatctccattatttCtaccatgaagagatcaatag	5	9	4	2			TCGA-EM-A3SU-01A-11D-A22Z-08	TCGA-EM-A3SU-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	598f5833-ab0a-4167-9c12-80573a106ea8	1ef6114a-a3ca-4992-9510-4209bfd07727	g.chr17:33279009C>T	ENST00000314144.5	-	5	689	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	CCT6B_ENST00000436961.3_Missense_Mutation_p.E147K|CCT6B_ENST00000421975.3_Missense_Mutation_p.E192K	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	192					chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	chaperonin-containing T-complex (GO:0005832)	ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082)	p.E192Q(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				TCCATTATTTCTACCATGAAG	0.318																																						ENST00000314144.5																			1	Substitution - Missense(1)	p.E192Q(1)	ovary(1)	NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20						c.(574-576)Gaa>Aaa		chaperonin containing TCP1, subunit 6B (zeta 2)							103	97	99					17																	33279009		2203	4300	6503	SO:0001583	missense	10693				chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding	g.chr17:33279009C>T	D78333	CCDS32617.1, CCDS54105.1, CCDS54106.1	17q	2011-09-02			ENSG00000132141	ENSG00000132141		"Heat Shock Proteins / Chaperonins"	1621	protein-coding gene	gene with protein product		610730				8812458, 9013858	Standard	NM_006584		Approved	Cctz2, TSA303	uc002hig.3	Q92526		ENST00000314144.5:c.574G>A	17.37:g.33279009C>T	ENSP00000327191:p.Glu192Lys					CCT6B_ENST00000436961.3_Missense_Mutation_p.E147K|CCT6B_ENST00000421975.3_Missense_Mutation_p.E192K	p.E192K	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN			5	689	-		Ovarian(249;0.17)	192					B4DX20|B4DYB0|Q8TC34	Missense_Mutation	SNP	ENST00000314144.5	37	c.574G>A	CCDS32617.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863828	0.71949	.	.	ENSG00000132141	ENST00000421975;ENST00000314144;ENST00000436961	T;T;T	0.77358	0.14;-1.09;-1.09	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	D	0.83358	0.5237	L	0.49513	1.565	0.80722	D	1	P;D;D	0.89917	0.944;1.0;1.0	D;D;D	0.91635	0.928;0.999;0.999	T	0.78588	-0.2146	10	0.17832	T	0.49	-21.0335	15.6109	0.76716	0.0:1.0:0.0:0.0	.	147;192;192	B4DYB0;B4DX20;Q92526	.;.;TCPW_HUMAN	K	192;192;147	ENSP00000398044:E192K;ENSP00000327191:E192K;ENSP00000400917:E147K	ENSP00000327191:E192K	E	-	1	0	CCT6B	30303122	1.000000	0.71417	0.923000	0.36655	0.236000	0.25371	6.653000	0.74382	2.627000	0.88993	0.655000	0.94253	GAA		0.318	CCT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448014.1	NM_006584		4	32	0	0	0	1	0	4	32					T	33279009	C	T	33279009	3	4	337	1	0	0	0	0	1	0	0	0	2958	922	32	2	1058	2	CCT6B	17	33279009	Missense_Mutation	SNP	C	TCGA-EM-A3SU-01A-11D-A22Z-08		33279009	47916201	16	7203											
CCT6B	10693	broad.mit.edu	37	chr17	33288338	33288338	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgcagccctcgggcggcGcatatattgacagccaaagc	11	14	0	1			TCGA-EM-A3SU-01A-11D-A22Z-08	TCGA-EM-A3SU-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	598f5833-ab0a-4167-9c12-80573a106ea8	1ef6114a-a3ca-4992-9510-4209bfd07727	g.chr17:33288338G>A	ENST00000314144.5	-	1	190	c.75C>T	c.(73-75)tgC>tgT	p.C25C	CCT6B_ENST00000436961.3_Silent_p.C25C|ZNF830_ENST00000361952.3_5'Flank|CCT6B_ENST00000421975.3_Silent_p.C25C	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	25				AALAVNICAARGL -> QLWLSIYAPPRV (in Ref. 1; BAA11347). {ECO:0000305}.	chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	chaperonin-containing T-complex (GO:0005832)	ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				CTCGGGCGGCGCATATATTGA	0.592																																						ENST00000314144.5																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20						c.(73-75)tgC>tgT		chaperonin containing TCP1, subunit 6B (zeta 2)							33	36	35					17																	33288338		2203	4300	6503	SO:0001819	synonymous_variant	10693				chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding	g.chr17:33288338G>A	D78333	CCDS32617.1, CCDS54105.1, CCDS54106.1	17q	2011-09-02			ENSG00000132141	ENSG00000132141		"Heat Shock Proteins / Chaperonins"	1621	protein-coding gene	gene with protein product		610730				8812458, 9013858	Standard	NM_006584		Approved	Cctz2, TSA303	uc002hig.3	Q92526		ENST00000314144.5:c.75C>T	17.37:g.33288338G>A						CCT6B_ENST00000436961.3_Silent_p.C25C|CCT6B_ENST00000421975.3_Silent_p.C25C	p.C25C	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN			1	190	-		Ovarian(249;0.17)	25	AALAVNICAARGL -> QLWLSIYAPPRV (in Ref. 1; BAA11347).				B4DX20|B4DYB0|Q8TC34	Silent	SNP	ENST00000314144.5	37	c.75C>T	CCDS32617.1																																																																																				0.592	CCT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448014.1	NM_006584		3	35	0	0	0	1	0	3	35					A	33288338	G	A	33288338	2	1	337	1	0	0	0	0	0	0	0	1	2958	1079	38	1		1	CCT6B	17	33288338	Silent	SNP	G	TCGA-EM-A3SU-01A-11D-A22Z-08	9329	33288338	47906872	17	7204											
BACH1	571	broad.mit.edu	37	chr21	30693752	30693752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttccgcgctcaccggtccGtgctggcggcatgcagcagt	15	14	1	0	rs149732438	byFrequency	TCGA-EM-A3SU-01A-11D-A22Z-08	TCGA-EM-A3SU-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	598f5833-ab0a-4167-9c12-80573a106ea8	1ef6114a-a3ca-4992-9510-4209bfd07727	g.chr21:30693752G>A	ENST00000399921.1	+	2	394	c.151G>A	c.(151-153)Gtg>Atg	p.V51M	BACH1_ENST00000286800.3_Missense_Mutation_p.V51M	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0	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)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						TCACCGGTCCGTGCTGGCGGC	0.522																																						ENST00000399921.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						c.(151-153)Gtg>Atg		BTB and CNC homology 1, basic leucine zipper transcription factor 1		G	MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	121	100	107		151,151	3.5	0.6	21	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	BACH1	NM_001186.2,NM_206866.1	21,21	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	51/737,51/737	30693752	2,13004	2203	4300	6503	SO:0001583	missense	571					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr21:30693752G>A	AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"BTB/POZ domain containing", "basic leucine zipper proteins"	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.151G>A	21.37:g.30693752G>A	ENSP00000382805:p.Val51Met					BACH1_ENST00000286800.3_Missense_Mutation_p.V51M	p.V51M	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN			2	394	+			51			BTB.		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000399921.1	37	c.151G>A	CCDS13585.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205003	0.79127	2.27E-4	1.16E-4	ENSG00000156273	ENST00000286800;ENST00000399921;ENST00000451655;ENST00000447177;ENST00000435072	T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77	5.33	3.5	0.40072	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.169650	0.40385	N	0.001113	D	0.83880	0.5350	M	0.92604	3.325	0.58432	D	0.999992	D	0.76494	0.999	P	0.52598	0.703	D	0.85822	0.1386	9	.	.	.	-11.384	10.7617	0.46268	0.0688:0.0:0.8007:0.1305	.	51	O14867	BACH1_HUMAN	M	51	ENSP00000286800:V51M;ENSP00000382805:V51M;ENSP00000400576:V51M;ENSP00000408605:V51M;ENSP00000392202:V51M	.	V	+	1	0	BACH1	29615623	1.000000	0.71417	0.603000	0.28903	0.830000	0.47004	5.152000	0.64882	0.719000	0.32188	0.557000	0.71058	GTG		0.522	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171974.1	NM_206866		4	57	0	0	0	1	0	4	57					A	30693752	G	A	30693752	3	1	337	1	0	0	0	0	1	0	0	0	1283	1145	40	1	153	1	BACH1	21	30693752	Missense_Mutation	SNP	G	TCGA-EM-A3SU-01A-11D-A22Z-08		30693752	17436143	18	7205											
BCAN	63827	broad.mit.edu	37	chr1	156628485	156628485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgatgccaagagaacggtcGttgggaggccccccagatct	13	13	1	2			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr1:156628485G>A	ENST00000329117.5	+	13	2924	c.2588G>A	c.(2587-2589)cGt>cAt	p.R863H	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	863	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GAGAACGGTCGTTGGGAGGCC	0.622																																						ENST00000329117.4																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(2587-2589)cGt>cAt		brevican							69	72	71					1																	156628485		2203	4300	6503	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156628485G>A	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	23059	protein-coding gene	gene with protein product	"chondroitin sulfate proteoglycan 7", "brevican proteoglycan"	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.2588G>A	1.37:g.156628485G>A	ENSP00000331210:p.Arg863His					BCAN_ENST00000496038.1_3'UTR|RP11-284F21.7_ENST00000448869.1_RNA	p.R863H	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN			13	2924	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		863			Sushi.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.2588G>A	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	G	0.627	-0.818612	0.02776	.	.	ENSG00000132692	ENST00000329117	T	0.65916	-0.18	4.96	-9.92	0.00455	Complement control module (2);Sushi/SCR/CCP (3);	1.743320	0.03457	N	0.211675	T	0.12603	0.0306	N	0.05306	-0.075	0.09310	N	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.04454	-1.0950	10	0.27082	T	0.32	2.3827	6.5287	0.22314	0.4563:0.0:0.1076:0.4361	.	863	Q96GW7	PGCB_HUMAN	H	863	ENSP00000331210:R863H	ENSP00000331210:R863H	R	+	2	0	BCAN	154895109	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.833000	0.00355	-2.027000	0.00932	-1.223000	0.01593	CGT		0.622	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		4	78	0	0	0	1	0	4	78					A	156628485	G	A	156628485	3	1	338	1	0	0	0	0	1	0	0	0	1345	1145	40	1	2708	1	BCAN	1	156628485	Missense_Mutation	SNP	G	TCGA-EM-A3SX-01A-11D-A22Z-08		156628485	92622136	1	7206											
PLXNA2	5362	broad.mit.edu	37	chr1	208269445	208269445	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttccctgtctccttggacctCagctgtagctccagcccaaa	7	16	2	0			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr1:208269445C>T	ENST00000367033.3	-	8	2668	c.1911G>A	c.(1909-1911)ctG>ctA	p.L637L		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	637					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)		CCTTGGACCTCAGCTGTAGCT	0.468																																						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.(1909-1911)ctG>ctA		plexin A2							208	221	216					1																	208269445		2203	4300	6503	SO:0001819	synonymous_variant	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208269445C>T	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.1911G>A	1.37:g.208269445C>T							p.L637L	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	8	2668	-			637					A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Silent	SNP	ENST00000367033.3	37	c.1911G>A	CCDS31013.1																																																																																				0.468	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		65	124	0	0	0	1	0	65	124					T	208269445	C	T	208269445	2	4	338	1	0	0	0	0	0	0	0	1	12120	813	29	2		2	PLXNA2	1	208269445	Silent	SNP	C	TCGA-EM-A3SX-01A-11D-A22Z-08	51640960	208269445	40981176	2	7207											
LTBP1	4052	broad.mit.edu	37	chr2	33589390	33589391	+	Frame_Shift_Ins	INS	-	-	A													catggtcctggatgcgtcagINSaaaaaagatgtatacgaccg							TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr2:33589390_33589391insA	ENST00000404816.2	+	30	4860_4861	c.4507_4508insA	c.(4507-4509)gaafs	p.E1503fs	LTBP1_ENST00000407925.1_Frame_Shift_Ins_p.E1177fs|LTBP1_ENST00000390003.4_Frame_Shift_Ins_p.E1178fs|LTBP1_ENST00000418533.2_Frame_Shift_Ins_p.E1135fs|LTBP1_ENST00000404525.1_Frame_Shift_Ins_p.E1124fs|LTBP1_ENST00000402934.1_Frame_Shift_Ins_p.E1122fs|LTBP1_ENST00000272273.5_Frame_Shift_Ins_p.E401fs|LTBP1_ENST00000354476.3_Frame_Shift_Ins_p.E1504fs			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1503	EGF-like 16; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GGATGCGTCAGAAAAAAGATGT	0.421																																						ENST00000404816.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(4507-4509)aaafs		latent transforming growth factor beta binding protein 1																																				SO:0001589	frameshift_variant	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33589390_33589391insA		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"Latent transforming growth factor, beta binding proteins"	6714	protein-coding gene	gene with protein product	"TGF-beta1-BP-1"	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.4513dupA	2.37:g.33589396_33589396dupA	ENSP00000386043:p.Glu1503fs					LTBP1_ENST00000418533.2_Frame_Shift_Ins_p.K1135fs|LTBP1_ENST00000272273.5_Frame_Shift_Ins_p.K401fs|LTBP1_ENST00000402934.1_Frame_Shift_Ins_p.K1122fs|LTBP1_ENST00000407925.1_Frame_Shift_Ins_p.K1177fs|LTBP1_ENST00000404525.1_Frame_Shift_Ins_p.K1124fs|LTBP1_ENST00000354476.3_Frame_Shift_Ins_p.K1504fs|LTBP1_ENST00000390003.4_Frame_Shift_Ins_p.K1178fs	p.K1503fs			Q14766	LTBP1_HUMAN			30	4860_4861	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1503			EGF-like 16; calcium-binding (Potential).		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Frame_Shift_Ins	INS	ENST00000404816.2	37	c.4507_4508insA	CCDS33177.2																																																																																				0.421	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		11	27						11	27	---	---	---	---	A	33589391	-	A	33589390	7	5	338	1	0	1	1	0	0	0	0	0	9073	943	33	0	4680	0	LTBP1	2	33589390	Frame_Shift_Ins	INS	-	TCGA-EM-A3SX-01A-11D-A22Z-08		33589390	209609983	3	7208											
FSHR	2492	broad.mit.edu	37	chr2	49190947	49190947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacgtcaaccacttcattgCataagtcatagtcaaactca	4	12	6	0			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr2:49190947C>T	ENST00000406846.2	-	10	1132	c.1013G>A	c.(1012-1014)tGc>tAc	p.C338Y	FSHR_ENST00000346173.3_Missense_Mutation_p.C276Y|FSHR_ENST00000304421.4_Missense_Mutation_p.C312Y|FSHR_ENST00000541117.1_Missense_Mutation_p.C74Y	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	338					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	CACTTCATTGCATAAGTCATA	0.473									Gonadal Dysgenesis, 46 XX																													ENST00000406846.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(1012-1014)tGc>tAc		follicle stimulating hormone receptor	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						303	256	272					2																	49190947		2203	4300	6503	SO:0001583	missense	0	Gonadal Dysgenesis, 46 XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49190947C>T		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"GPCR / Class A : Gonadotropin and TSH receptors"	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1013G>A	2.37:g.49190947C>T	ENSP00000384708:p.Cys338Tyr					FSHR_ENST00000541117.1_Missense_Mutation_p.C74Y|FSHR_ENST00000304421.4_Missense_Mutation_p.C312Y|FSHR_ENST00000346173.3_Missense_Mutation_p.C276Y	p.C338Y	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	1132	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	338					A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.1013G>A	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607388	0.66558	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117;ENST00000454032	D;D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23;-3.23	5.33	5.33	0.75918	Gonadotropin hormone receptor, transmembrane domain (1);	0.099573	0.64402	D	0.000001	D	0.96602	0.8891	M	0.79475	2.455	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.91635	0.999;0.998;0.999	D	0.96127	0.9089	9	.	.	.	.	18.1871	0.89796	0.0:1.0:0.0:0.0	.	312;276;338	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	Y	338;276;312;74;276	ENSP00000384708:C338Y;ENSP00000333908:C276Y;ENSP00000306780:C312Y;ENSP00000444172:C74Y;ENSP00000415504:C276Y	.	C	-	2	0	FSHR	49044451	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.320000	0.79064	2.779000	0.95612	0.561000	0.74099	TGC		0.473	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			26	33	0	0	0	1	0	26	33					T	49190947	C	T	49190947	3	4	338	1	0	0	0	0	1	0	0	0	6073	710	25	2	1078	2	FSHR	2	49190947	Missense_Mutation	SNP	C	TCGA-EM-A3SX-01A-11D-A22Z-08	15601557	49190947	194008426	4	7209											
RBM43	375287	broad.mit.edu	37	chr2	152108098	152108098	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaactcgggattttttttttCaggtcttttaccagagtttc	7	7	2	1			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr2:152108098C>T	ENST00000331426.5	-	4	547	c.396G>A	c.(394-396)ctG>ctA	p.L132L		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	132							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		TTTTTTTTTTCAGGTCTTTTA	0.378																																						ENST00000331426.5																			0				endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8						c.(394-396)ctG>ctA		RNA binding motif protein 43							74	83	80					2																	152108098		2189	4290	6479	SO:0001819	synonymous_variant	375287						nucleotide binding|RNA binding	g.chr2:152108098C>T	AK127552	CCDS2191.1	2q23.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000184898	ENSG00000184898		"RNA binding motif (RRM) containing"	24790	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 38"	C2orf38			Standard	NM_198557		Approved	FLJ45645	uc002txh.3	Q6ZSC3	OTTHUMG00000131866	ENST00000331426.5:c.396G>A	2.37:g.152108098C>T							p.L132L	NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.131)	4	547	-			132					B2RMT5	Silent	SNP	ENST00000331426.5	37	c.396G>A	CCDS2191.1																																																																																				0.378	RBM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254816.2	NM_198557		19	37	0	0	0	1	0	19	37					T	152108098	C	T	152108098	2	4	338	1	0	0	0	0	0	0	0	1	13137	813	29	2		2	RBM43	2	152108098	Silent	SNP	C	TCGA-EM-A3SX-01A-11D-A22Z-08	102917151	152108098	91091275	5	7210											
DOCK10	55619	broad.mit.edu	37	chr2	225721649	225721649	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttcttgtctaaacaatggtGaaaatcttgagtctctgtcc	7	8	4	2			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr2:225721649G>A	ENST00000258390.7	-	15	1803	c.1736C>T	c.(1735-1737)tCa>tTa	p.S579L	DOCK10_ENST00000409592.3_Missense_Mutation_p.S573L	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	579					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AAACAATGGTGAAAATCTTGA	0.308																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(1717-1719)tCa>tTa		dedicator of cytokinesis 10							106	102	103					2																	225721649		1828	4084	5912	SO:0001583	missense	55619						GTP binding	g.chr2:225721649G>A	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.1736C>T	2.37:g.225721649G>A	ENSP00000258390:p.Ser579Leu					DOCK10_ENST00000258390.7_Missense_Mutation_p.S579L	p.S573L			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	15	1831	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	579					B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.1718C>T	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	G	31	5.077355	0.94000	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.04156	3.69;3.69	5.53	5.53	0.82687	.	0.127708	0.53938	D	0.000042	T	0.27169	0.0666	M	0.85859	2.78	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.918	T	0.01269	-1.1400	10	0.51188	T	0.08	.	19.4441	0.94840	0.0:0.0:1.0:0.0	.	579;573	Q96BY6;B3FL70	DOC10_HUMAN;.	L	573;579	ENSP00000386694:S573L;ENSP00000258390:S579L	ENSP00000258390:S579L	S	-	2	0	DOCK10	225429893	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.471000	0.97696	2.589000	0.87451	0.579000	0.79373	TCA		0.308	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			6	8	0	0	0	1	0	6	8					A	225721649	G	A	225721649	3	1	338	1	0	0	0	0	1	0	0	0	4685	1294	45	2	4992	2	DOCK10	2	225721649	Missense_Mutation	SNP	G	TCGA-EM-A3SX-01A-11D-A22Z-08	73613551	225721649	17477724	6	7211											
AFM	173	broad.mit.edu	37	chr4	74350072	74350072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatacaaagacagatgtatgGctgacaagacgctcccagag	10	9	0	5			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr4:74350072G>A	ENST00000226355.3	+	3	328	c.235G>A	c.(235-237)Gct>Act	p.A79T		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	79	Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CAGATGTATGGCTGACAAGAC	0.373																																						ENST00000226355.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(235-237)Gct>Act		afamin							109	110	110					4																	74350072		2203	4300	6503	SO:0001583	missense	173				vitamin transport		vitamin E binding	g.chr4:74350072G>A	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.235G>A	4.37:g.74350072G>A	ENSP00000226355:p.Ala79Thr						p.A79T	NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		3	328	+	Breast(15;0.00102)		79			Albumin 1.		A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	ENST00000226355.3	37	c.235G>A	CCDS3557.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310177	0.60414	.	.	ENSG00000079557	ENST00000226355	T	0.73575	-0.76	5.09	4.25	0.50352	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.406836	0.24962	N	0.034211	T	0.80232	0.4585	M	0.73217	2.22	0.09310	N	1	D	0.63880	0.993	P	0.57620	0.824	T	0.71041	-0.4707	10	0.45353	T	0.12	.	9.403	0.38444	0.0988:0.0:0.9012:0.0	.	79	P43652	AFAM_HUMAN	T	79	ENSP00000226355:A79T	ENSP00000226355:A79T	A	+	1	0	AFM	74568936	0.045000	0.20229	0.003000	0.11579	0.009000	0.06853	2.930000	0.48924	1.154000	0.42482	0.650000	0.86243	GCT		0.373	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2			13	29	0	0	0	1	0	13	29					A	74350072	G	A	74350072	3	1	338	1	0	0	0	0	1	0	0	0	361	1203	42	2	245	2	AFM	4	74350072	Missense_Mutation	SNP	G	TCGA-EM-A3SX-01A-11D-A22Z-08		74350072	116804204	7	7212											
ID4	3400	broad.mit.edu	37	chr6	19838858	19838858	+	Nonstop_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cgacagcattctgtgccgctGagccgcgctgtccaggtgag	14	13	1	2			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr6:19838858G>C	ENST00000378700.3	+	2	854	c.485G>C	c.(484-486)tGa>tCa	p.*162S	RP1-167F1.2_ENST00000432171.2_RNA	NM_001546.3	NP_001537.1	P47928	ID4_HUMAN	inhibitor of DNA binding 4, dominant negative helix-loop-helix protein	0					cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex neuron differentiation (GO:0021895)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|hippocampus development (GO:0021766)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroblast proliferation (GO:0007405)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			lung(1)	1	Ovarian(93;0.0355)|Breast(50;0.0654)|all_epithelial(95;0.12)		OV - Ovarian serous cystadenocarcinoma(7;0.00659)|all cancers(50;0.0327)|Epithelial(50;0.0621)			CTGTGCCGCTGAGCCGCGCTG	0.672																																					Esophageal Squamous(13;105 518 19978 28644 46870)	ENST00000378700.3																			0				lung(1)	1						c.(484-486)tGa>tCa		inhibitor of DNA binding 4, dominant negative helix-loop-helix protein							87	76	80					6																	19838858		2203	4300	6503	SO:0001578	stop_lost	3400						transcription corepressor activity	g.chr6:19838858G>C	U16153	CCDS4544.1	6p22.3	2013-05-21			ENSG00000172201	ENSG00000172201		"Basic helix-loop-helix proteins"	5363	protein-coding gene	gene with protein product		600581				7665172	Standard	NM_001546		Approved	bHLHb27	uc003ncw.4	P47928	OTTHUMG00000014333	ENST00000378700.3:c.485G>C	6.37:g.19838858G>C	ENSP00000367972:p.*162Serext*10					RP1-167F1.2_ENST00000432171.2_RNA	p.*162S	NM_001546.3	NP_001537.1	P47928	ID4_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00659)|all cancers(50;0.0327)|Epithelial(50;0.0621)		2	854	+	Ovarian(93;0.0355)|Breast(50;0.0654)|all_epithelial(95;0.12)		0					Q13005	Nonstop_Mutation	SNP	ENST00000378700.3	37	c.485G>C	CCDS4544.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.516548	0.44763	.	.	ENSG00000172201	ENST00000378700	.	.	.	4.49	4.49	0.54785	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1194	0.48279	0.0864:0.0:0.9136:0.0	.	.	.	.	S	162	.	.	X	+	2	2	ID4	19946837	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.266000	0.58871	2.193000	0.70182	0.462000	0.41574	TGA		0.672	ID4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039979.1	NM_001546		19	32	0	0	0	1	0	19	32					C	19838858	G	C	19838858	4	2	338	1	0	0	0	0	0	0	0	0	7492	1285	45	4	491	4	ID4	6	19838858	Nonstop_Mutation	SNP	G	TCGA-EM-A3SX-01A-11D-A22Z-08		19838858	151276209	8	7213											
KLC4	89953	broad.mit.edu	37	chr6	43039904	43039904	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gccccacagtgaacactactCtgagaaacctgggagctctg	10	13	2	2			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr6:43039904C>G	ENST00000394056.2	+	13	1894	c.1399C>G	c.(1399-1401)Ctg>Gtg	p.L467V	KLC4_ENST00000259708.3_Missense_Mutation_p.L485V|KLC4_ENST00000479388.1_Missense_Mutation_p.L467V|KLC4_ENST00000453940.2_Missense_Mutation_p.L390V|RP11-387M24.5_ENST00000606123.1_RNA|KLC4_ENST00000394058.1_Missense_Mutation_p.L467V|KLC4_ENST00000347162.5_Missense_Mutation_p.L467V			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	467						cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			GAACACTACTCTGAGAAACCT	0.532																																						ENST00000394056.2																			0				endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23						c.(1399-1401)Ctg>Gtg		kinesin light chain 4							71	78	76					6																	43039904		2203	4300	6503	SO:0001583	missense	89953					cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr6:43039904C>G	AK055293	CCDS4882.1, CCDS4883.1, CCDS47429.1, CCDS75459.1	6p21.1	2013-01-10	2005-09-13	2005-09-13	ENSG00000137171	ENSG00000137171		"Tetratricopeptide (TTC) repeat domain containing"	21624	protein-coding gene	gene with protein product			"kinesin-like 8"	KNSL8			Standard	NM_001289034		Approved	bA387M24.3	uc003otw.1	Q9NSK0	OTTHUMG00000014720	ENST00000394056.2:c.1399C>G	6.37:g.43039904C>G	ENSP00000377620:p.Leu467Val					KLC4_ENST00000347162.5_Missense_Mutation_p.L467V|KLC4_ENST00000479388.1_Missense_Mutation_p.L467V|KLC4_ENST00000394058.1_Missense_Mutation_p.L467V|KLC4_ENST00000453940.2_Missense_Mutation_p.L390V|KLC4_ENST00000259708.3_Missense_Mutation_p.L485V	p.L467V			Q9NSK0	KLC4_HUMAN	all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)		13	1894	+			467					B3KNY4|B3KPI3|B3KSQ3|B4DME9|Q66K28|Q96EG6	Missense_Mutation	SNP	ENST00000394056.2	37	c.1399C>G	CCDS4883.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.738604	0.69304	.	.	ENSG00000137171	ENST00000347162;ENST00000453940;ENST00000259708;ENST00000479388;ENST00000394056;ENST00000394058	T;T;T;T;T;T	0.66815	-0.23;1.02;-0.23;-0.23;-0.23;-0.23	6.04	3.33	0.38152	Tetratricopeptide-like helical (1);	0.000000	0.47455	D	0.000232	T	0.75309	0.3832	M	0.83953	2.67	0.58432	D	0.999991	D;D;D	0.71674	0.998;0.997;0.998	D;D;D	0.85130	0.997;0.987;0.992	T	0.77830	-0.2442	10	0.54805	T	0.06	-30.4699	10.7825	0.46386	0.0:0.7988:0.0:0.2012	.	390;485;467	B4DME9;Q9NSK0-3;Q9NSK0	.;.;KLC4_HUMAN	V	467;390;485;467;467;467	ENSP00000340221:L467V;ENSP00000395806:L390V;ENSP00000259708:L485V;ENSP00000418031:L467V;ENSP00000377620:L467V;ENSP00000377622:L467V	ENSP00000259708:L485V	L	+	1	2	KLC4	43147882	0.956000	0.32656	0.744000	0.31058	0.914000	0.54420	2.203000	0.42752	0.904000	0.36572	0.561000	0.74099	CTG		0.532	KLC4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040579.2	NM_138343		27	38	0	0	0	1	0	27	38					G	43039904	C	G	43039904	3	3	338	1	0	0	0	0	1	0	0	0	8336	912	32	4	1568	4	KLC4	6	43039904	Missense_Mutation	SNP	C	TCGA-EM-A3SX-01A-11D-A22Z-08	23201046	43039904	128075163	9	7214											
TTK	7272	broad.mit.edu	37	chr6	80732143	80732143	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccagaatcctgctgcatcttCaaatcactggcagattccgg	8	13	3	2			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr6:80732143C>G	ENST00000369798.2	+	11	1322	c.1211C>G	c.(1210-1212)tCa>tGa	p.S404*	TTK_ENST00000230510.3_Nonsense_Mutation_p.S404*|TTK_ENST00000515751.1_3'UTR|TTK_ENST00000509894.1_Nonsense_Mutation_p.S404*	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	404					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		GCTGCATCTTCAAATCACTGG	0.388																																						ENST00000509894.1																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(1210-1212)tCa>tGa		TTK protein kinase							89	87	87					6																	80732143		2203	4300	6503	SO:0001587	stop_gained	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80732143C>G		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"cancer/testis antigen 96", "monopolar spindle 1 kinase"	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.1211C>G	6.37:g.80732143C>G	ENSP00000358813:p.Ser404*					TTK_ENST00000515751.1_3'UTR|TTK_ENST00000369798.2_Nonsense_Mutation_p.S404*|TTK_ENST00000230510.3_Nonsense_Mutation_p.S404*	p.S404*			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	11	2040	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	404					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Nonsense_Mutation	SNP	ENST00000369798.2	37	c.1211C>G	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996262	0.74818	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	.	.	.	5.11	4.09	0.47781	.	0.970813	0.08532	N	0.931901	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	7.5501	0.27790	0.0:0.8484:0.0:0.1516	.	.	.	.	X	404	.	ENSP00000230510:S404X	S	+	2	0	TTK	80788862	0.004000	0.15560	0.011000	0.14972	0.251000	0.25915	1.447000	0.35101	0.903000	0.36546	0.563000	0.77884	TCA		0.388	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			21	30	0	0	0	1	0	21	30					G	80732143	C	G	80732143	4	3	338	1	0	0	0	0	0	1	0	0	16717	838	29	4	1249	4	TTK	6	80732143	Nonsense_Mutation	SNP	C	TCGA-EM-A3SX-01A-11D-A22Z-08	37692239	80732143	90382924	10	7215											
TPBG	7162	broad.mit.edu	37	chr6	83074982	83074982	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctcttccttaccggcaacCagctggccgtgctccctgcc	8	19	1	0			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr6:83074982C>T	ENST00000369750.3	+	2	921	c.304C>T	c.(304-306)Cag>Tag	p.Q102*	TPBG_ENST00000535040.1_Nonsense_Mutation_p.Q102*|TPBG_ENST00000543496.1_Nonsense_Mutation_p.Q102*			Q13641	TPBG_HUMAN	trophoblast glycoprotein	102					cell adhesion (GO:0007155)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		TACCGGCAACCAGCTGGCCGT	0.721																																						ENST00000369750.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						c.(304-306)Cag>Tag		trophoblast glycoprotein							13	14	14					6																	83074982		2147	4195	6342	SO:0001587	stop_gained	7162				cell adhesion	integral to plasma membrane		g.chr6:83074982C>T	AJ012159	CCDS4995.1	6q14-q15	2008-07-29			ENSG00000146242	ENSG00000146242			12004	protein-coding gene	gene with protein product		190920				8132670	Standard	NM_006670		Approved	5T4-AG, 5T4	uc003pjo.3	Q13641	OTTHUMG00000015103	ENST00000369750.3:c.304C>T	6.37:g.83074982C>T	ENSP00000358765:p.Gln102*					TPBG_ENST00000543496.1_Nonsense_Mutation_p.Q102*|TPBG_ENST00000535040.1_Nonsense_Mutation_p.Q102*	p.Q102*			Q13641	TPBG_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.107)	2	921	+		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)	102					A8K555	Nonsense_Mutation	SNP	ENST00000369750.3	37	c.304C>T	CCDS4995.1	.	.	.	.	.	.	.	.	.	.	C	40	8.213317	0.98709	.	.	ENSG00000146242	ENST00000535040;ENST00000369750;ENST00000543496	.	.	.	4.11	1.34	0.21922	.	1.164140	0.06354	N	0.710476	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.4332	4.5381	0.12043	0.1525:0.601:0.0:0.2465	.	.	.	.	X	102	.	ENSP00000358765:Q102X	Q	+	1	0	TPBG	83131701	0.000000	0.05858	0.041000	0.18516	0.969000	0.65631	0.469000	0.22067	0.073000	0.16731	0.462000	0.41574	CAG		0.721	TPBG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041340.1			13	17	0	0	0	1	0	13	17					T	83074982	C	T	83074982	4	4	338	1	0	0	0	0	0	1	0	0	16391	595	21	2	306	2	TPBG	6	83074982	Nonsense_Mutation	SNP	C	TCGA-EM-A3SX-01A-11D-A22Z-08	2342839	83074982	88040085	11	7216											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		15	31	0	0	0	1	0	15	31					T	140453136	A	T	140453136	3	4	338	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A3SX-01A-11D-A22Z-08		140453136	18685527	12	7217											
KIAA1797	54914	broad.mit.edu	37	chr9	20764983	20764983	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccctgctgaaagtcttacttCaaccccaggttctttgtgac	7	13	3	2			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr9:20764983C>G	ENST00000380249.1	+	9	974	c.610C>G	c.(610-612)Caa>Gaa	p.Q204E	FOCAD_ENST00000338382.6_Missense_Mutation_p.Q204E	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	204						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											AGTCTTACTTCAACCCCAGGT	0.403																																						ENST00000380249.1																			0											c.(610-612)Caa>Gaa		focadhesin							172	150	157					9																	20764983		2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20764983C>G	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"KIAA1797"	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.610C>G	9.37:g.20764983C>G	ENSP00000369599:p.Gln204Glu					FOCAD_ENST00000338382.6_Missense_Mutation_p.Q204E	p.Q204E	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN			9	974	+			204					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.610C>G	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.322087	0.23994	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.22743	1.94;1.94	5.98	3.08	0.35506	Domain of unknown function DUF3730 (1);	0.254670	0.39834	N	0.001250	T	0.14527	0.0351	L	0.29908	0.895	0.38819	D	0.955597	B	0.06786	0.001	B	0.09377	0.004	T	0.09509	-1.0671	10	0.25751	T	0.34	-8.8552	10.8361	0.46688	0.3768:0.5019:0.1213:0.0	.	204	Q5VW36	K1797_HUMAN	E	204	ENSP00000369599:Q204E;ENSP00000344307:Q204E	ENSP00000344307:Q204E	Q	+	1	0	KIAA1797	20754983	0.997000	0.39634	0.998000	0.56505	0.990000	0.78478	0.661000	0.25023	0.387000	0.25024	0.591000	0.81541	CAA		0.403	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		24	27	0	0	0	1	0	24	27					G	20764983	C	G	20764983	3	3	338	1	0	0	0	0	1	0	0	0	8258	827	29	4	632	4	KIAA1797	9	20764983	Missense_Mutation	SNP	C	TCGA-EM-A3SX-01A-11D-A22Z-08		20764983	120448448	13	7218											
FLJ46321	389763	broad.mit.edu	37	chr9	84603866	84603866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatactgtacttgttctacGtggtattgaccctgtattcg	8	8	1	1	rs184147253		TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr9:84603866G>A	ENST00000344803.2	+	1	180	c.133G>A	c.(133-135)Gtg>Atg	p.V45M		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	45					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTTGTTCTACGTGGTATTGAC	0.463													G|||	1	0.000199681	0	0.0014	5008	,	,		17545	0		0	False		,,,				2504	0					ENST00000344803.2																			0											c.(133-135)Gtg>Atg		SPATA31 subfamily D, member 1							281	236	250					9																	84603866		1890	4103	5993	SO:0001583	missense	389763							g.chr9:84603866G>A		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.133G>A	9.37:g.84603866G>A	ENSP00000341988:p.Val45Met						p.V45M	NM_001001670.2	NP_001001670.1					1	180	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.133G>A	CCDS47986.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	6.624	0.483542	0.12581	.	.	ENSG00000214929	ENST00000344803	T	0.05199	3.48	2.63	-0.589	0.11683	.	1.210740	0.06415	N	0.721388	T	0.05823	0.0152	L	0.34521	1.04	0.09310	N	1	D	0.56968	0.978	P	0.45712	0.491	T	0.25502	-1.0130	10	0.44086	T	0.13	0.1061	1.1868	0.01856	0.215:0.4019:0.2368:0.1463	.	45	Q6ZQQ2	F75D1_HUMAN	M	45	ENSP00000341988:V45M	ENSP00000341988:V45M	V	+	1	0	FAM75D1	83793686	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.208000	0.09371	-0.111000	0.12001	-0.367000	0.07326	GTG		0.463	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		14	23	0	0	0	1	0	14	23					A	84603866	G	A	84603866	3	1	338	1	0	0	0	0	1	0	0	0	5932	1145	40	1	135	1	FLJ46321	9	84603866	Missense_Mutation	SNP	G	TCGA-EM-A3SX-01A-11D-A22Z-08	63838883	84603866	56609565	14	7219											
TDRD7	23424	broad.mit.edu	37	chr9	100249532	100249532	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggattatggcaaacacgaAttagtcaacataagaaaagt	8	6	1	1			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr9:100249532A>G	ENST00000355295.4	+	16	3289	c.2994A>G	c.(2992-2994)gaA>gaG	p.E998E	TDRD7_ENST00000422139.2_Silent_p.E924E|TDRD7_ENST00000540902.1_Silent_p.E318E	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	998	Interacts with CABLES1. {ECO:0000250}.|Interacts with CDK17. {ECO:0000250}.				germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				GCAAACACGAATTAGTCAACA	0.423																																						ENST00000355295.4																			0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2992-2994)gaA>gaG		tudor domain containing 7							145	135	139					9																	100249532		2203	4300	6503	SO:0001819	synonymous_variant	23424				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding	g.chr9:100249532A>G	AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"Tudor domain containing"	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.2994A>G	9.37:g.100249532A>G						TDRD7_ENST00000422139.2_Silent_p.E924E|TDRD7_ENST00000540902.1_Silent_p.E318E	p.E998E	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN			16	3289	+		Acute lymphoblastic leukemia(62;0.158)	998			Interacts with CABLES1 (By similarity).|Interacts with CDK17 (By similarity).		A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Silent	SNP	ENST00000355295.4	37	c.2994A>G	CCDS6725.1																																																																																				0.423	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290		3	59	0	0	0	1	0	3	59					G	100249532	A	G	100249532	2	3	338	1	0	0	0	0	0	0	0	1	15732	98	4	3		3	TDRD7	9	100249532	Silent	SNP	A	TCGA-EM-A3SX-01A-11D-A22Z-08	15645666	100249532	40963899	15	7220											
MUC5B	727897	broad.mit.edu	37	chr11	1282791	1282791	+	Frame_Shift_Del	DEL	C	C	-													gtgtccctgcgcccatggctCccccacacacccgtggcttc							TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr11:1282791delC	ENST00000529681.1	+	49	17300	c.17242delC	c.(17242-17244)cccfs	p.P5749fs	MUC5B_ENST00000447027.1_Frame_Shift_Del_p.P5752fs	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5749					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCCATGGCTCCCCCACACAC	0.637																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(17251-17253)ccfs		mucin 5B, oligomeric mucus/gel-forming							44	54	51					11																	1282791		2169	4248	6417	SO:0001589	frameshift_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1282791delC	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.17242delC	11.37:g.1282791delC	ENSP00000436812:p.Pro5749fs					MUC5B_ENST00000529681.1_Frame_Shift_Del_p.P5749fs	p.P5752fs			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	49	17309	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	5749					O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Frame_Shift_Del	DEL	ENST00000529681.1	37	c.17251delC	CCDS44515.2																																																																																				0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		3	6						3	6	---	---	---	---	-	1282791	C	-	1282791	7	5	338	1	0	1	0	1	0	0	0	0	9979	855	30	0	17445	0	MUC5B	11	1282791	Frame_Shift_Del	DEL	C	TCGA-EM-A3SX-01A-11D-A22Z-08		1282791	133723725	16	7221											
OR52A1	23538	broad.mit.edu	37	chr11	5172741	5172741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtggattgagaaatggagGgaccagcaagtaaatgctag	14	4	0	1			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr11:5172741G>A	ENST00000380367.1	-	2	1276	c.859C>T	c.(859-861)Cct>Tct	p.P287S	OR52A1_ENST00000328942.1_Missense_Mutation_p.P287S			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	287					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAAATGGAGGGACCAGCAAG	0.408																																						ENST00000380367.1																			0				breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19						c.(859-861)Cct>Tct		olfactory receptor, family 52, subfamily A, member 1							140	144	142					11																	5172741		2201	4298	6499	SO:0001583	missense	23538				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr11:5172741G>A	AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"GPCR / Class A : Olfactory receptors"	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.859C>T	11.37:g.5172741G>A	ENSP00000369725:p.Pro287Ser					OR52A1_ENST00000328942.1_Missense_Mutation_p.P287S	p.P287S			Q9UKL2	O52A1_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1276	-		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)	287					Q6IF31	Missense_Mutation	SNP	ENST00000380367.1	37	c.859C>T	CCDS31374.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.539434	0.85917	.	.	ENSG00000182070	ENST00000380367;ENST00000328942	T;T	0.35048	1.33;1.33	4.99	4.99	0.66335	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000138	T	0.69387	0.3105	M	0.92880	3.355	0.50813	D	0.999894	D	0.89917	1.0	D	0.97110	1.0	T	0.77890	-0.2419	10	0.87932	D	0	.	17.0037	0.86387	0.0:0.0:1.0:0.0	.	287	Q9UKL2	O52A1_HUMAN	S	287	ENSP00000369725:P287S;ENSP00000333684:P287S	ENSP00000333684:P287S	P	-	1	0	OR52A1	5129317	1.000000	0.71417	0.992000	0.48379	0.887000	0.51463	6.015000	0.70791	2.603000	0.88011	0.655000	0.94253	CCT		0.408	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142810.2	NM_012375		36	39	0	0	0	1	0	36	39					A	5172741	G	A	5172741	3	1	338	1	0	0	0	0	1	0	0	0	11108	1232	43	2	81	2	OR52A1	11	5172741	Missense_Mutation	SNP	G	TCGA-EM-A3SX-01A-11D-A22Z-08	3889950	5172741	129833775	17	7222											
OR10AG1	282770	broad.mit.edu	37	chr11	55735160	55735160	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agagaaatcagtttccccatCctttgaaactgatgtggttt	8	8	1	3			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr11:55735160C>A	ENST00000312345.2	-	1	830	c.780G>T	c.(778-780)agG>agT	p.R260S		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GTTTCCCCATCCTTTGAAACT	0.383																																						ENST00000312345.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(778-780)agG>agT		olfactory receptor, family 10, subfamily AG, member 1							70	71	70					11																	55735160		2201	4296	6497	SO:0001583	missense	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735160C>A	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"GPCR / Class A : Olfactory receptors"	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.780G>T	11.37:g.55735160C>A	ENSP00000311477:p.Arg260Ser						p.R260S	NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN			1	830	-	Esophageal squamous(21;0.0137)		260					B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	c.780G>T	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	C	8.828	0.939132	0.18281	.	.	ENSG00000174970	ENST00000312345	T	0.00051	8.81	5.37	-1.7	0.08159	GPCR, rhodopsin-like superfamily (1);	0.478606	0.19442	N	0.114146	T	0.00039	0.0001	N	0.01729	-0.75	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.32481	-0.9905	10	0.35671	T	0.21	.	0.3584	0.00361	0.2607:0.2423:0.1341:0.3629	.	260	Q8NH19	O10AG_HUMAN	S	260	ENSP00000311477:R260S	ENSP00000311477:R260S	R	-	3	2	OR10AG1	55491736	0.000000	0.05858	0.000000	0.03702	0.687000	0.40016	-4.874000	0.00175	0.046000	0.15833	-0.499000	0.04595	AGG		0.383	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		7	24	1	0	1.26484e-09	1	1.32106e-09	7	24					A	55735160	C	A	55735160	3	1	338	1	0	0	0	0	1	0	0	0	10897	854	30	4	128	4	OR10AG1	11	55735160	Missense_Mutation	SNP	C	TCGA-EM-A3SX-01A-11D-A22Z-08	50562419	55735160	79271356	18	7223											
OR5M1	390168	broad.mit.edu	37	chr11	56380282	56380282	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaaaaggctttgtgcctgcCttcagcagaacggatcctga	11	10	1	3			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr11:56380282C>A	ENST00000526538.1	-	1	696	c.697G>T	c.(697-699)Ggc>Tgc	p.G233C		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TTGTGCCTGCCTTCAGCAGAA	0.443																																						ENST00000526538.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						c.(697-699)Ggc>Tgc		olfactory receptor, family 5, subfamily M, member 1							50	47	48					11																	56380282		1799	4030	5829	SO:0001583	missense	390168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56380282C>A	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"GPCR / Class A : Olfactory receptors"	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.697G>T	11.37:g.56380282C>A	ENSP00000435416:p.Gly233Cys						p.G233C	NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN			1	696	-			233					Q6IF60|Q96RB6	Missense_Mutation	SNP	ENST00000526538.1	37	c.697G>T	CCDS53631.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612904	0.46631	.	.	ENSG00000255012	ENST00000526538	T	0.00304	8.19	3.71	3.71	0.42584	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01421	0.0046	H	0.98754	4.32	0.09310	N	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.19128	-1.0315	9	0.87932	D	0	.	14.3562	0.66740	0.0:1.0:0.0:0.0	.	233	Q8NGP8	OR5M1_HUMAN	C	233	ENSP00000435416:G233C	ENSP00000435416:G233C	G	-	1	0	OR5M1	56136858	0.000000	0.05858	1.000000	0.80357	0.838000	0.47535	0.081000	0.14823	1.949000	0.56562	0.280000	0.19369	GGC		0.443	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		22	42	1	0	5.77227e-19	1	6.16584e-19	22	42					A	56380282	C	A	56380282	3	1	338	1	0	0	0	0	1	0	0	0	11172	681	24	4	254	4	OR5M1	11	56380282	Missense_Mutation	SNP	C	TCGA-EM-A3SX-01A-11D-A22Z-08	645122	56380282	78626234	19	7224											
SLCO2B1	11309	broad.mit.edu	37	chr11	74880293	74880293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctcggccccctccaatgGcaactgctcaagctacacag	8	17	1	0			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr11:74880293G>A	ENST00000289575.5	+	5	919	c.524G>A	c.(523-525)gGc>gAc	p.G175D	SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000454962.2_Intron|SLCO2B1_ENST00000341411.4_Intron|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.G153D|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.G59D|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.G31D	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	175					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	CCCTCCAATGGCAACTGCTCA	0.587																																						ENST00000289575.5																			0				breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39						c.(523-525)gGc>gAc		solute carrier organic anion transporter family, member 2B1	Ergoloid mesylate(DB01049)						61	61	61					11																	74880293		2200	4293	6493	SO:0001583	missense	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74880293G>A	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"Solute carriers"	10962	protein-coding gene	gene with protein product		604988	"solute carrier family 21 (organic anion transporter), member 9"	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.524G>A	11.37:g.74880293G>A	ENSP00000289575:p.Gly175Asp					SLCO2B1_ENST00000341411.4_Intron|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.G59D|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.G153D|SLCO2B1_ENST00000454962.2_Intron|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.G31D	p.G175D	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN			5	919	+			175					A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	37	c.524G>A	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	G	0.308	-0.969430	0.02232	.	.	ENSG00000137491	ENST00000289575;ENST00000532236;ENST00000525650;ENST00000428359;ENST00000526839	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12	5.07	3.19	0.36642	Major facilitator superfamily domain, general substrate transporter (1);	3.641030	0.00597	N	0.000373	T	0.23171	0.0560	N	0.04297	-0.235	0.20926	N	0.999826	B;B	0.13145	0.007;0.002	B;B	0.10450	0.005;0.003	T	0.28170	-1.0052	10	0.09843	T	0.71	.	7.9328	0.29912	0.1878:0.0:0.8122:0.0	.	31;175	E9PPU8;O94956	.;SO2B1_HUMAN	D	175;59;31;153;51	ENSP00000289575:G175D;ENSP00000434112:G59D;ENSP00000436324:G31D;ENSP00000388912:G153D;ENSP00000434742:G51D	ENSP00000289575:G175D	G	+	2	0	SLCO2B1	74557941	0.008000	0.16893	0.163000	0.22734	0.007000	0.05969	1.125000	0.31332	0.706000	0.31912	0.650000	0.86243	GGC		0.587	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		3	40	0	0	0	1	0	3	40					A	74880293	G	A	74880293	3	1	338	1	0	0	0	0	1	0	0	0	14727	1203	42	2	542	2	SLCO2B1	11	74880293	Missense_Mutation	SNP	G	TCGA-EM-A3SX-01A-11D-A22Z-08	18500011	74880293	60126223	20	7225											
CNTN5	53942	broad.mit.edu	37	chr11	100221518	100221518	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agtaccactcccagatgctgGagtctatattattgaagttc	8	9	1	2			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr11:100221518G>C	ENST00000524871.1	+	24	3406	c.3116G>C	c.(3115-3117)gGa>gCa	p.G1039A	CNTN5_ENST00000528682.1_Missense_Mutation_p.G1039A|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.G965A|CNTN5_ENST00000279463.3_Missense_Mutation_p.G1039A	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	1039	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CCAGATGCTGGAGTCTATATT	0.398																																						ENST00000524871.1																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(3115-3117)gGa>gCa		contactin 5							124	122	123					11																	100221518		1887	4111	5998	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:100221518G>C	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.3116G>C	11.37:g.100221518G>C	ENSP00000435637:p.Gly1039Ala					CNTN5_ENST00000418526.2_Missense_Mutation_p.G965A|CNTN5_ENST00000279463.3_Missense_Mutation_p.G1039A|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.G1039A	p.G1039A	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	24	3406	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	1039			Fibronectin type-III 4.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.3116G>C	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.493527	0.64186	.	.	ENSG00000149972	ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.4	5.4	0.78164	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.69842	0.3156	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.68138	-0.5488	9	.	.	.	.	18.1597	0.89704	0.0:0.0:1.0:0.0	.	965;1039	O94779-2;O94779	.;CNTN5_HUMAN	A	1039;1039;965;1039	ENSP00000436185:G1039A;ENSP00000435637:G1039A;ENSP00000393229:G965A;ENSP00000279463:G1039A	.	G	+	2	0	CNTN5	99726728	1.000000	0.71417	0.985000	0.45067	0.500000	0.33767	6.251000	0.72441	2.517000	0.84864	0.555000	0.69702	GGA		0.398	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		12	18	0	0	0	1	0	12	18					C	100221518	G	C	100221518	3	2	338	1	0	0	0	0	1	0	0	0	3644	1174	41	4	3202	4	CNTN5	11	100221518	Missense_Mutation	SNP	G	TCGA-EM-A3SX-01A-11D-A22Z-08	25341225	100221518	34784998	21	7226											
ZFC3H1	196441	broad.mit.edu	37	chr12	72013900	72013900	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acaaagctccattgcagcctCataccttaacaaaaaagaaa	4	11	1	1			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr12:72013900C>T	ENST00000378743.3	-	26	5213	c.4855G>A	c.(4855-4857)Gag>Aag	p.E1619K		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1619					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ATTGCAGCCTCATACCTTAAC	0.353																																						ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(4855-4857)Gag>Aag		zinc finger, C3H1-type containing							64	57	59					12																	72013900		1844	4089	5933	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72013900C>T	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"Zinc finger, C3H1-type containing"	28328	protein-coding gene	gene with protein product			"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.4855G>A	12.37:g.72013900C>T	ENSP00000368017:p.Glu1619Lys						p.E1619K	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			26	5213	-			1619					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.4855G>A	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	C	30	5.054513	0.93793	.	.	ENSG00000133858	ENST00000378743	T	0.36157	1.27	5.07	5.07	0.68467	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.116424	0.56097	D	0.000021	T	0.28830	0.0715	L	0.27053	0.805	0.80722	D	1	P	0.47762	0.9	B	0.38500	0.275	T	0.13202	-1.0518	10	0.56958	D	0.05	.	18.6356	0.91378	0.0:1.0:0.0:0.0	.	1619	O60293	ZC3H1_HUMAN	K	1619	ENSP00000368017:E1619K	ENSP00000368017:E1619K	E	-	1	0	ZFC3H1	70300167	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.983000	0.63832	2.632000	0.89209	0.563000	0.77884	GAG		0.353	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		8	15	0	0	0	1	0	8	15					T	72013900	C	T	72013900	3	4	338	1	0	0	0	0	1	0	0	0	17630	835	29	2	1154	2	ZFC3H1	12	72013900	Missense_Mutation	SNP	C	TCGA-EM-A3SX-01A-11D-A22Z-08		72013900	61837995	22	7227											
SALL2	6297	broad.mit.edu	37	chr14	21992041	21992041	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctcctgaggcagctgaggtCaccgccacagctccttgccg	12	16	1	2			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr14:21992041C>T	ENST00000327430.3	-	2	2115	c.1821G>A	c.(1819-1821)gtG>gtA	p.V607V	SALL2_ENST00000450879.2_Silent_p.V470V|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron|AE000658.22_ENST00000535893.1_RNA	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	607					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(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CAGCTGAGGTCACCGCCACAG	0.582																																						ENST00000327430.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43						c.(1819-1821)gtG>gtA		spalt-like transcription factor 2							41	43	42					14																	21992041		2203	4300	6503	SO:0001819	synonymous_variant	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21992041C>T	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"Zinc fingers, C2H2-type"	10526	protein-coding gene	gene with protein product		602219	"sal (Drosophila)-like 2", "sal-like 2 (Drosophila)"			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.1821G>A	14.37:g.21992041C>T						SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_Silent_p.V470V	p.V607V	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	2115	-	all_cancers(95;0.000662)		607					B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Silent	SNP	ENST00000327430.3	37	c.1821G>A	CCDS32045.1																																																																																				0.582	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		16	21	0	0	0	1	0	16	21					T	21992041	C	T	21992041	2	4	338	1	0	0	0	0	0	0	0	1	13811	813	29	2		2	SALL2	14	21992041	Silent	SNP	C	TCGA-EM-A3SX-01A-11D-A22Z-08		21992041	85357499	23	7228											
SALL2	6297	broad.mit.edu	37	chr14	21992320	21992320	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcttgggttccactgctttCatgagcacaaacttattgaa	7	9	2	2			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr14:21992320C>T	ENST00000327430.3	-	2	1836	c.1542G>A	c.(1540-1542)atG>atA	p.M514I	SALL2_ENST00000450879.2_Missense_Mutation_p.M377I|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron|AE000658.22_ENST00000535893.1_RNA	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	514					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(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CCACTGCTTTCATGAGCACAA	0.552																																						ENST00000327430.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43						c.(1540-1542)atG>atA		spalt-like transcription factor 2							47	46	46					14																	21992320		2203	4300	6503	SO:0001583	missense	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21992320C>T	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"Zinc fingers, C2H2-type"	10526	protein-coding gene	gene with protein product		602219	"sal (Drosophila)-like 2", "sal-like 2 (Drosophila)"			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.1542G>A	14.37:g.21992320C>T	ENSP00000333537:p.Met514Ile					SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_Missense_Mutation_p.M377I	p.M514I	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	1836	-	all_cancers(95;0.000662)		514					B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP	ENST00000327430.3	37	c.1542G>A	CCDS32045.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.298058	0.40694	.	.	ENSG00000165821	ENST00000327430;ENST00000450879;ENST00000541876	T;T	0.03982	3.81;3.74	4.6	4.6	0.57074	.	0.000000	0.47455	D	0.000227	T	0.06096	0.0158	L	0.50333	1.59	0.35780	D	0.821572	B;B;B	0.22003	0.063;0.063;0.063	B;B;B	0.19666	0.026;0.026;0.026	T	0.23511	-1.0186	10	0.12103	T	0.63	-11.4966	14.949	0.71057	0.0:1.0:0.0:0.0	.	377;377;514	B4DK65;E7EW59;Q9Y467	.;.;SALL2_HUMAN	I	514;377;514	ENSP00000333537:M514I;ENSP00000396773:M377I	ENSP00000333537:M514I	M	-	3	0	SALL2	21062160	0.994000	0.37717	1.000000	0.80357	0.914000	0.54420	1.214000	0.32419	2.385000	0.81259	0.563000	0.77884	ATG		0.552	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		21	15	0	0	0	1	0	21	15					T	21992320	C	T	21992320	3	4	338	1	0	0	0	0	1	0	0	0	13811	826	29	2	1485	2	SALL2	14	21992320	Missense_Mutation	SNP	C	TCGA-EM-A3SX-01A-11D-A22Z-08	279	21992320	85357220	24	7229											
TNRC6A	27327	broad.mit.edu	37	chr16	24801369	24801369	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tagtttaccaaactccggttCagtgcagaataatgagctgc	9	9	1	2			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr16:24801369C>T	ENST00000395799.3	+	6	1535	c.1406C>T	c.(1405-1407)tCa>tTa	p.S469L	TNRC6A_ENST00000315183.7_Missense_Mutation_p.S469L	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	469	Interaction with argonaute family proteins.|Sufficient for interaction with AGO1, AGO3 and AGO4.|Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|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)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		AACTCCGGTTCAGTGCAGAAT	0.438																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(1405-1407)tCa>tTa		trinucleotide repeat containing 6A							56	54	55					16																	24801369		2197	4300	6497	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24801369C>T	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.1406C>T	16.37:g.24801369C>T	ENSP00000379144:p.Ser469Leu					TNRC6A_ENST00000315183.7_Missense_Mutation_p.S469L	p.S469L	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	6	1535	+			469			Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Sufficient for interaction with EIF2C2.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.1406C>T	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	C	12.61	1.990871	0.35131	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.11930	2.74;2.73	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000001	T	0.12050	0.0293	L	0.29908	0.895	0.80722	D	1	B;B;B	0.21753	0.037;0.008;0.06	B;B;B	0.19148	0.024;0.009;0.018	T	0.03981	-1.0987	10	0.52906	T	0.07	-1.8203	13.5436	0.61690	0.0:0.9292:0.0:0.0708	.	216;469;469	Q8NDV7-2;Q8NDV7-6;Q8NDV7	.;.;TNR6A_HUMAN	L	469	ENSP00000326900:S469L;ENSP00000379144:S469L	ENSP00000326900:S469L	S	+	2	0	TNRC6A	24708870	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.105000	0.64591	2.816000	0.96949	0.563000	0.77884	TCA		0.438	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		15	17	0	0	0	1	0	15	17					T	24801369	C	T	24801369	3	4	338	1	0	0	0	0	1	0	0	0	16337	838	29	2	1428	2	TNRC6A	16	24801369	Missense_Mutation	SNP	C	TCGA-EM-A3SX-01A-11D-A22Z-08		24801369	65553384	25	7230											
BPTF	2186	broad.mit.edu	37	chr17	65908048	65908048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaactgtgaggacaggctgCcggtcaaggggactgaagca	16	8	1	2			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr17:65908048C>T	ENST00000321892.4	+	13	4487	c.4426C>T	c.(4426-4428)Ccg>Tcg	p.P1476S	BPTF_ENST00000424123.3_Missense_Mutation_p.P1337S|BPTF_ENST00000335221.5_Missense_Mutation_p.P1476S|BPTF_ENST00000306378.6_Missense_Mutation_p.P1350S			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1476					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GGACAGGCTGCCGGTCAAGGG	0.418																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(4426-4428)Ccg>Tcg		bromodomain PHD finger transcription factor							55	54	54					17																	65908048		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65908048C>T	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.4426C>T	17.37:g.65908048C>T	ENSP00000315454:p.Pro1476Ser					BPTF_ENST00000424123.3_Missense_Mutation_p.P1337S|BPTF_ENST00000335221.5_Missense_Mutation_p.P1476S|BPTF_ENST00000306378.6_Missense_Mutation_p.P1350S	p.P1476S			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		13	4487	+	all_cancers(12;6e-11)		1476					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.4426C>T		.	.	.	.	.	.	.	.	.	.	C	0.013	-1.630878	0.00813	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.60548	0.18;0.19;0.19	5.58	4.59	0.56863	.	.	.	.	.	T	0.34890	0.0913	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.17561	-1.0365	9	0.23302	T	0.38	0.0688	9.1005	0.36664	0.3521:0.5244:0.1234:0.0	.	1350;1476	Q12830-2;Q12830-4	.;.	S	1350;1476;1476	ENSP00000307208:P1350S;ENSP00000334351:P1476S;ENSP00000315454:P1476S	ENSP00000307208:P1350S	P	+	1	0	BPTF	63338510	0.005000	0.15991	0.008000	0.14137	0.002000	0.02628	0.956000	0.29202	1.299000	0.44798	0.650000	0.86243	CCG		0.418	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		3	22	0	0	0	1	0	3	22					T	65908048	C	T	65908048	3	4	338	1	0	0	0	0	1	0	0	0	1495	739	26	2	4476	2	BPTF	17	65908048	Missense_Mutation	SNP	C	TCGA-EM-A3SX-01A-11D-A22Z-08		65908048	15287162	26	7231											
TMEM143	55260	broad.mit.edu	37	chr19	48836571	48836571	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccgggggtgggtacaatcCcatgctgggggtcagggcct	17	11	1	0	rs141028740		TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr19:48836571C>T	ENST00000293261.3	-	8	1601	c.1285G>A	c.(1285-1287)Gga>Aga	p.G429R	TMEM143_ENST00000435956.3_Missense_Mutation_p.G394R|TMEM143_ENST00000541566.1_Missense_Mutation_p.G319R|TMEM143_ENST00000436660.2_Missense_Mutation_p.G364R|TMEM143_ENST00000377431.2_Missense_Mutation_p.G329R	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	429					hematopoietic progenitor cell differentiation (GO:0002244)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		GGGTACAATCCCATGCTGGGG	0.622																																						ENST00000293261.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14						c.(1285-1287)Gga>Aga		transmembrane protein 143		C	ARG/GLY	0,4406		0,0,2203	52	55	54		1285	3.2	0.1	19	dbSNP_134	54	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM143	NM_018273.2	125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	429/460	48836571	1,13005	2203	4300	6503	SO:0001583	missense	55260					integral to membrane|mitochondrion		g.chr19:48836571C>T	AK129801	CCDS12716.1	19q13.32	2008-02-05				ENSG00000161558			25603	protein-coding gene	gene with protein product						12975309	Standard	NM_018273		Approved	FLJ10922	uc002pix.1	Q96AN5		ENST00000293261.3:c.1285G>A	19.37:g.48836571C>T	ENSP00000293261:p.Gly429Arg					TMEM143_ENST00000435956.3_Missense_Mutation_p.G394R|TMEM143_ENST00000377431.2_Missense_Mutation_p.G329R|TMEM143_ENST00000541566.1_Missense_Mutation_p.G319R|TMEM143_ENST00000436660.2_Missense_Mutation_p.G364R	p.G429R	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)	8	1601	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)	429					A8K656|Q6UXY4|Q9NV49	Missense_Mutation	SNP	ENST00000293261.3	37	c.1285G>A	CCDS12716.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.798249	0.70567	0.0	1.16E-4	ENSG00000161558	ENST00000293261;ENST00000377431;ENST00000435956;ENST00000436660;ENST00000541566	T;T;T	0.55588	0.51;0.59;0.52	4.27	3.15	0.36227	.	0.000000	0.38720	N	0.001594	T	0.56292	0.1975	L	0.27053	0.805	0.09310	N	1	D;D;D;D	0.89917	0.969;1.0;1.0;1.0	P;D;D;D	0.91635	0.585;0.988;0.96;0.999	T	0.42396	-0.9454	10	0.72032	D	0.01	-24.4636	10.201	0.43084	0.0:0.6846:0.3154:0.0	.	364;329;394;429	B4DPF8;Q96AN5-2;B4DMT0;Q96AN5	.;.;.;TM143_HUMAN	R	429;329;394;364;319	ENSP00000293261:G429R;ENSP00000397038:G394R;ENSP00000444275:G319R	ENSP00000293261:G429R	G	-	1	0	TMEM143	53528383	0.026000	0.19158	0.145000	0.22337	0.934000	0.57294	1.525000	0.35953	2.393000	0.81446	0.462000	0.41574	GGA		0.622	TMEM143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465622.1	NM_018273		17	61	0	0	0	1	0	17	61					T	48836571	C	T	48836571	3	4	338	1	0	0	0	0	1	0	0	0	16054	632	22	2	98	2	TMEM143	19	48836571	Missense_Mutation	SNP	C	TCGA-EM-A3SX-01A-11D-A22Z-08		48836571	10292412	27	7232											
TLR7	51284	broad.mit.edu	37	chrX	12905565	12905565	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aacagatacttacaattattCaagaatctgctaaaattaga	4	6	2	3			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chrX:12905565C>G	ENST00000380659.3	+	3	2077	c.1938C>G	c.(1936-1938)ttC>ttG	p.F646L		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	646					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	TACAATTATTCAAGAATCTGC	0.363																																						ENST00000380659.3																			0				NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44						c.(1936-1938)ttC>ttG		toll-like receptor 7	Imiquimod(DB00724)						65	70	68					X																	12905565		2203	4300	6503	SO:0001583	missense	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12905565C>G	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.1938C>G	X.37:g.12905565C>G	ENSP00000370034:p.Phe646Leu						p.F646L	NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN			3	2077	+			646					D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	c.1938C>G	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.396627	0.42512	.	.	ENSG00000196664	ENST00000380659	T	0.76968	-1.06	5.46	2.68	0.31781	.	0.000000	0.85682	D	0.000000	D	0.87869	0.6286	M	0.89095	3.005	0.49213	D	0.999762	D	0.76494	0.999	D	0.78314	0.991	D	0.86558	0.1839	10	0.87932	D	0	.	9.5395	0.39242	0.0:0.6186:0.0:0.3814	.	646	Q9NYK1	TLR7_HUMAN	L	646	ENSP00000370034:F646L	ENSP00000370034:F646L	F	+	3	2	TLR7	12815486	0.959000	0.32827	0.993000	0.49108	0.918000	0.54935	0.148000	0.16224	0.138000	0.18790	0.529000	0.55759	TTC		0.363	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		34	57	0	0	0	1	0	34	57					G	12905565	C	G	12905565	3	3	338	1	0	0	0	0	1	0	0	0	15953	825	29	4	1944	4	TLR7	23	12905565	Missense_Mutation	SNP	C	TCGA-EM-A3SX-01A-11D-A22Z-08		12905565	142364995	28	7233											
NR0B1	190	broad.mit.edu	37	chrX	30322801	30322801	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acattggcattgatgaatctCagcaggaaaagggtactatt	10	6	1	2			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chrX:30322801C>T	ENST00000378970.4	-	2	1542	c.1308G>A	c.(1306-1308)ctG>ctA	p.L436L		NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	436	Ligand-binding. {ECO:0000250}.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|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)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	TGATGAATCTCAGCAGGAAAA	0.468																																						ENST00000378970.4																			0				central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24						c.(1306-1308)ctG>ctA		nuclear receptor subfamily 0, group B, member 1	Dexamethasone(DB01234)|Tretinoin(DB00755)						187	153	165					X																	30322801		2202	4300	6502	SO:0001819	synonymous_variant	190				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding	g.chrX:30322801C>T	S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"Nuclear hormone receptors"	7960	protein-coding gene	gene with protein product		300473	"dosage-sensitive sex reversal"	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.1308G>A	X.37:g.30322801C>T							p.L436L	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN			2	1542	-			436			Ligand-binding (By similarity).		Q96F69	Silent	SNP	ENST00000378970.4	37	c.1308G>A	CCDS14223.1																																																																																				0.468	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056161.1	NM_000475		30	47	0	0	0	1	0	30	47					T	30322801	C	T	30322801	2	4	338	1	0	0	0	0	0	0	0	1	10613	813	29	2		2	NR0B1	23	30322801	Silent	SNP	C	TCGA-EM-A3SX-01A-11D-A22Z-08	17417236	30322801	124947759	29	7234											
GAGE2A	729447	broad.mit.edu	37	chrX	49355893	49355893	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagctgctcaggagggaCaggatgagggagcatctgca	16	9	2	1	rs59641550		TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chrX:49355893C>G	ENST00000362097.1	+	3	258	c.175C>G	c.(175-177)Cag>Gag	p.Q59E		NM_001127212.1	NP_001120684.1	Q6NT46	GAG2A_HUMAN	G antigen 2A	59								p.Q59E(8)		endometrium(4)	4	Ovarian(276;0.236)					TCAGGAGGGACAGGATGAGGG	0.562																																						ENST00000362097.1																			8	Substitution - Missense(8)	p.Q59E(8)	endometrium(8)	endometrium(4)	4						c.(175-177)Cag>Gag		G antigen 2A																																				SO:0001583	missense	729447							g.chrX:49355893C>G	U19143	CCDS48114.1	Xp11.23	2009-03-17	2007-07-23	2007-07-23	ENSG00000189064	ENSG00000189064			4099	protein-coding gene	gene with protein product	"cancer/testis antigen family 4, member 2"	300720	"G antigen 2"	GAGE2		7544395	Standard	NM_001127212		Approved	CT4.2		Q6NT46	OTTHUMG00000024143	ENST00000362097.1:c.175C>G	X.37:g.49355893C>G	ENSP00000355421:p.Gln59Glu						p.Q59E	NM_001127212.1	NP_001120684.1					3	258	+	Ovarian(276;0.236)								Missense_Mutation	SNP	ENST00000362097.1	37	c.175C>G	CCDS48114.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.861266	0.00064	.	.	ENSG00000189064	ENST00000362097	T	0.05447	3.44	0.869	-1.69	0.08186	.	.	.	.	.	T	0.00815	0.0027	N	0.00035	-2.545	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.34104	-0.9842	8	0.02654	T	1	.	3.0546	0.06180	0.33:0.2512:0.4188:0.0	.	59	Q6NT46	GAG2A_HUMAN	E	59	ENSP00000355421:Q59E	ENSP00000355421:Q59E	Q	+	1	0	GAGE2A	49242837	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-1.119000	0.03276	-1.599000	0.01605	-0.870000	0.02990	CAG		0.562	GAGE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060827.3			5	304	0	0	0	1	0	5	304					G	49355893	C	G	49355893	3	3	338	1	0	0	0	0	1	0	0	0	6190	479	17	4	1282	4	GAGE2A	23	49355893	Missense_Mutation	SNP	C	TCGA-EM-A3SX-01A-11D-A22Z-08	19033092	49355893	105914667	30	7235											
MORC4	79710	broad.mit.edu	37	chrX	106224676	106224676	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gatgtcatattgatctgtatCaaagtccaactcagattttc	6	8	4	2			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chrX:106224676C>G	ENST00000355610.4	-	6	980	c.706G>C	c.(706-708)Gat>Cat	p.D236H	MORC4_ENST00000535534.1_5'UTR|MORC4_ENST00000255495.7_Missense_Mutation_p.D236H	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	236						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						TGATCTGTATCAAAGTCCAAC	0.383																																						ENST00000355610.4																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						c.(706-708)Gat>Cat		MORC family CW-type zinc finger 4							127	116	120					X																	106224676		2203	4300	6503	SO:0001583	missense	79710						ATP binding|zinc ion binding	g.chrX:106224676C>G	AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"zinc finger, CW-type with coiled-coil domain 2", "zinc finger, CW type with coiled-coil domain 2"	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.706G>C	X.37:g.106224676C>G	ENSP00000347821:p.Asp236His					MORC4_ENST00000255495.7_Missense_Mutation_p.D236H|MORC4_ENST00000535534.1_5'UTR	p.D236H	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN			6	980	-			236					A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Missense_Mutation	SNP	ENST00000355610.4	37	c.706G>C	CCDS14525.2	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392097	0.62066	.	.	ENSG00000133131	ENST00000355610;ENST00000255495	T;T	0.74106	-0.81;-0.81	4.81	2.97	0.34412	ATPase-like, ATP-binding domain (1);	0.128054	0.52532	D	0.000079	T	0.80470	0.4629	M	0.69248	2.105	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.66847	0.921;0.947	T	0.79560	-0.1753	10	0.72032	D	0.01	-6.3986	6.0982	0.20033	0.1921:0.7029:0.0:0.105	.	236;236	A1YR23;Q8TE76	.;MORC4_HUMAN	H	236	ENSP00000347821:D236H;ENSP00000255495:D236H	ENSP00000255495:D236H	D	-	1	0	MORC4	106111332	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.813000	0.48002	1.042000	0.40150	0.594000	0.82650	GAT		0.383	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3	NM_024657		20	44	0	0	0	1	0	20	44					G	106224676	C	G	106224676	3	3	338	1	0	0	0	0	1	0	0	0	9704	826	29	4	2155	4	MORC4	23	106224676	Missense_Mutation	SNP	C	TCGA-EM-A3SX-01A-11D-A22Z-08	56868783	106224676	49045884	31	7236											
GPR101	83550	broad.mit.edu	37	chrX	136113520	136113520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgaggctaaccagggccGtgcagaagtggctgttgagg	19	7	0	3			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chrX:136113520G>A	ENST00000298110.1	-	1	313	c.314C>T	c.(313-315)aCg>aTg	p.T105M		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.T105M(1)		autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					AACCAGGGCCGTGCAGAAGTG	0.612																																						ENST00000298110.1																			1	Substitution - Missense(1)	p.T105M(1)	large_intestine(1)	autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42						c.(313-315)aCg>aTg		G protein-coupled receptor 101							65	51	56					X																	136113520		2202	4300	6502	SO:0001583	missense	83550					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:136113520G>A	AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"GPCR / Class A : Orphans"	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.314C>T	X.37:g.136113520G>A	ENSP00000298110:p.Thr105Met						p.T105M	NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN			1	313	-	Acute lymphoblastic leukemia(192;0.000127)		105					Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	c.314C>T	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.649616	0.47362	.	.	ENSG00000165370	ENST00000298110	T	0.19532	2.14	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.42245	0.1194	M	0.67700	2.07	0.28310	N	0.922704	D	0.76494	0.999	D	0.68483	0.958	T	0.31052	-0.9957	9	0.87932	D	0	-12.6415	10.6131	0.45434	0.0:0.1903:0.8097:0.0	.	105	Q96P66	GP101_HUMAN	M	105	ENSP00000298110:T105M	ENSP00000298110:T105M	T	-	2	0	GPR101	135941186	1.000000	0.71417	0.841000	0.33234	0.964000	0.63967	4.241000	0.58707	2.027000	0.59764	0.600000	0.82982	ACG		0.612	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			3	27	0	0	0	1	0	3	27					A	136113520	G	A	136113520	3	1	338	1	0	0	0	0	1	0	0	0	6622	1145	40	1	1215	1	GPR101	23	136113520	Missense_Mutation	SNP	G	TCGA-EM-A3SX-01A-11D-A22Z-08	29888844	136113520	19157040	32	7237											
LYST	1130	broad.mit.edu	37	chr1	235955049	235955049	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttaatgatttgtttcttttcTttatcttctttcctttttct	2	7	5	1			TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr1:235955049T>A	ENST00000389794.3	-	12	4667	c.4493A>T	c.(4492-4494)aAg>aTg	p.K1498M	LYST_ENST00000536965.1_Intron|LYST_ENST00000389793.2_Missense_Mutation_p.K1498M			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1498					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GTTTCTTTTCTTTATCTTCTT	0.363																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(4492-4494)aAg>aTg		lysosomal trafficking regulator							152	149	150					1																	235955049		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235955049T>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.4493A>T	1.37:g.235955049T>A	ENSP00000374444:p.Lys1498Met					LYST_ENST00000389793.2_Missense_Mutation_p.K1498M|LYST_ENST00000536965.1_Intron	p.K1498M			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		12	4667	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1498					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.4493A>T	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	T	17.39	3.376735	0.61735	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.64260	-0.09;-0.09	5.76	-0.443	0.12249	.	0.670270	0.16884	N	0.195569	T	0.68833	0.3044	M	0.62723	1.935	0.80722	D	1	D;D	0.69078	0.997;0.98	P;P	0.59761	0.863;0.737	T	0.69109	-0.5232	10	0.72032	D	0.01	.	10.1137	0.42579	0.0:0.3253:0.0:0.6747	.	1498;1498	Q99698-3;Q99698	.;LYST_HUMAN	M	1498	ENSP00000374444:K1498M;ENSP00000374443:K1498M	ENSP00000374443:K1498M	K	-	2	0	LYST	234021672	1.000000	0.71417	0.645000	0.29479	0.587000	0.36485	2.309000	0.43699	-0.036000	0.13669	0.528000	0.53228	AAG		0.363	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			9	43	0	0	0	1	0	9	43					A	235955049	T	A	235955049	3	1	339	1	0	0	0	0	1	0	0	0	9128	1609	56	5	7080	5	LYST	1	235955049	Missense_Mutation	SNP	T	TCGA-EM-A3SY-01A-11D-A22Z-08		235955049	13295572	1	7238											
MGAT4A	11320	broad.mit.edu	37	chr2	99256429	99256429	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccgcaggtgggtttacatgGattttaagaagtaatggttt	12	4	0	1			TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr2:99256429G>A	ENST00000264968.3	-	11	1527	c.1164C>T	c.(1162-1164)atC>atT	p.I388I	MGAT4A_ENST00000414521.2_Silent_p.I260I|MGAT4A_ENST00000393487.1_Silent_p.I388I|MGAT4A_ENST00000409391.1_Silent_p.I388I			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	388					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						GGTTTACATGGATTTTAAGAA	0.363																																						ENST00000393487.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						c.(1162-1164)atC>atT		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A							69	73	72					2																	99256429		2203	4300	6503	SO:0001819	synonymous_variant	11320				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr2:99256429G>A	AB000616	CCDS2036.1, CCDS54380.1	2q12	2013-02-25	2005-11-16		ENSG00000071073	ENSG00000071073	2.4.1.145	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7047	protein-coding gene	gene with protein product		604623	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A"			10024668	Standard	NM_001160154		Approved	GnT-Iva, GnT-4a	uc002sze.3	Q9UM21	OTTHUMG00000130563	ENST00000264968.3:c.1164C>T	2.37:g.99256429G>A						MGAT4A_ENST00000264968.2_Silent_p.I388I|MGAT4A_ENST00000414521.2_Silent_p.I260I|MGAT4A_ENST00000409391.1_Silent_p.I388I	p.I388I	NM_012214.2	NP_036346.1	Q9UM21	MGT4A_HUMAN			12	1477	-			388					B4E2R6|D3DVH6|E9PEN2|Q53S97|Q86Z15	Silent	SNP	ENST00000264968.3	37	c.1164C>T	CCDS2036.1																																																																																				0.363	MGAT4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252988.2	NM_012214		10	25	0	0	0	1	0	10	25					A	99256429	G	A	99256429	2	1	339	1	0	0	0	0	0	0	0	1	9545	1164	41	2		2	MGAT4A	2	99256429	Silent	SNP	G	TCGA-EM-A3SY-01A-11D-A22Z-08		99256429	143942944	2	7239											
ZEB2	9839	broad.mit.edu	37	chr2	145161544	145161544	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgggtgcggtaggcaaacGtgtagctacagagagggcag	18	7	0	1			TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr2:145161544G>A	ENST00000558170.2	-	6	1930	c.746C>T	c.(745-747)aCg>aTg	p.T249M	ZEB2_ENST00000303660.4_Missense_Mutation_p.T249M|ZEB2_ENST00000539609.3_Missense_Mutation_p.T225M|ZEB2_ENST00000409487.3_Missense_Mutation_p.T249M	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	249					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GTAGGCAAACGTGTAGCTACA	0.512																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107						c.(745-747)aCg>aTg		zinc finger E-box binding homeobox 2							237	228	231					2																	145161544		2203	4300	6503	SO:0001583	missense	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145161544G>A	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	14881	protein-coding gene	gene with protein product	"SMAD interacting protein 1"	605802	"zinc finger homeobox 1b"	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.746C>T	2.37:g.145161544G>A	ENSP00000454157:p.Thr249Met					ZEB2_ENST00000539609.3_Missense_Mutation_p.T225M|ZEB2_ENST00000409487.3_Missense_Mutation_p.T249M|ZEB2_ENST00000303660.4_Missense_Mutation_p.T249M	p.T249M	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	6	1930	-			249					A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.746C>T	CCDS2186.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.050891|4.050891	0.75960|0.75960	.|.	.|.	ENSG00000169554|ENSG00000169554	ENST00000419938|ENST00000392860;ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861	.|T;T;T;T;T	.|0.29917	.|1.55;1.55;1.55;1.55;1.55	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55321|0.55321	0.1913|0.1913	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;0.999;1.0;1.0;1.0	.|D;D;D;D;D	.|0.87578	.|0.984;0.964;0.998;0.998;0.998	T|T	0.55315|0.55315	-0.8160|-0.8160	5|10	.|0.87932	.|D	.|0	-8.6697|-8.6697	19.7329|19.7329	0.96190|0.96190	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|225;114;225;248;249	.|F5H814;Q53TD9;B7Z2P2;A0JP08;O60315	.|.;.;.;.;ZEB2_HUMAN	C|M	138|244;225;249;249;249;249	.|ENSP00000443792:T225M;ENSP00000302501:T249M;ENSP00000386854:T249M;ENSP00000395496:T249M;ENSP00000376601:T249M	.|ENSP00000302501:T249M	R|T	-|-	1|2	0|0	ZEB2|ZEB2	144878014|144878014	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.476000|9.476000	0.97823|0.97823	2.663000|2.663000	0.90544|0.90544	0.655000|0.655000	0.94253|0.94253	CGT|ACG		0.512	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		27	46	0	0	0	1	0	27	46					A	145161544	G	A	145161544	3	1	339	1	0	0	0	0	1	0	0	0	17621	1145	40	1	2918	1	ZEB2	2	145161544	Missense_Mutation	SNP	G	TCGA-EM-A3SY-01A-11D-A22Z-08	45905115	145161544	98037829	3	7240											
SCN5A	6331	broad.mit.edu	37	chr3	38592647	38592647	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggctcccgcagtcccccCgagagccattgctgttgggc	13	16	0	1	rs200217157		TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr3:38592647C>T	ENST00000333535.4	-	28	5365	c.5216G>A	c.(5215-5217)cGg>cAg	p.R1739Q	SCN5A_ENST00000449557.2_Missense_Mutation_p.R1685Q|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1721Q|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1738Q|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1721Q|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1685Q|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1685Q|SCN5A_ENST00000413689.1_Missense_Mutation_p.R1739Q|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1738Q|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1706Q			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1739					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)	GCAGTCCCCCCGAGAGCCATT	0.612																																						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.(5215-5217)cGg>cAg		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)						64	69	68					3																	38592647		2203	4300	6503	SO:0001583	missense	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.chr3:38592647C>T	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.5216G>A	3.37:g.38592647C>T	ENSP00000328968:p.Arg1739Gln					SCN5A_ENST00000455624.2_Missense_Mutation_p.R1706Q|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1685Q|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1685Q|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1685Q|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1738Q|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1738Q|SCN5A_ENST00000333535.4_Missense_Mutation_p.R1739Q|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1721Q|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1721Q	p.R1739Q	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)	28	5409	-	Medulloblastoma(35;0.163)		1739					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.5216G>A	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573662	0.65765	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.95756	-3.71;-3.74;-3.74;-3.76;-3.74;-3.71;-3.74;-3.8;-3.76;-3.76	4.95	4.95	0.65309	Ion transport (1);	0.144183	0.50627	D	0.000113	D	0.92734	0.7690	L	0.35854	1.095	0.35399	D	0.791442	B;D;P;D;P;P	0.56968	0.381;0.958;0.784;0.978;0.583;0.81	B;B;B;P;B;B	0.50934	0.149;0.37;0.274;0.654;0.146;0.212	D	0.93067	0.6479	10	0.59425	D	0.04	.	4.6104	0.12399	0.2159:0.6564:0.0:0.1276	.	1685;1706;1721;1739;1738;1739	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	Q	1721;1738;1739;1685;1738;1721;1739;1706;1685;1685	ENSP00000398962:R1721Q;ENSP00000398266:R1738Q;ENSP00000410257:R1739Q;ENSP00000388797:R1685Q;ENSP00000397915:R1738Q;ENSP00000416634:R1721Q;ENSP00000328968:R1739Q;ENSP00000399524:R1706Q;ENSP00000403355:R1685Q;ENSP00000413996:R1685Q	ENSP00000328968:R1739Q	R	-	2	0	SCN5A	38567651	0.999000	0.42202	1.000000	0.80357	0.833000	0.47200	2.333000	0.43912	2.573000	0.86826	0.655000	0.94253	CGG		0.612	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		26	57	0	0	0	1	0	26	57					T	38592647	C	T	38592647	3	4	339	1	0	0	0	0	1	0	0	0	13922	652	23	1	838	1	SCN5A	3	38592647	Missense_Mutation	SNP	C	TCGA-EM-A3SY-01A-11D-A22Z-08		38592647	159429783	4	7241											
LYRM7	90624	broad.mit.edu	37	chr5	130517950	130517951	+	Frame_Shift_Ins	INS	-	-	A													taaagataaatgaagaattcINSaaaaataataaaagtgaaac							TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr5:130517950_130517951insA	ENST00000379380.4	+	3	331_332	c.120_121insA	c.(121-123)aaafs	p.K41fs	LYRM7_ENST00000510516.1_Intron|LYRM7_ENST00000507584.1_Frame_Shift_Ins_p.K41fs	NM_181705.2	NP_859056.2	Q5U5X0	LYRM7_HUMAN	LYR motif containing 7	41						mitochondrion (GO:0005739)				upper_aerodigestive_tract(1)	1		all_cancers(142;0.0377)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGAAGAATTCAAAAATAATAA	0.243																																						ENST00000379380.4																			0				upper_aerodigestive_tract(1)	1						c.(118-123)ttaaaafs		LYR motif containing 7																																				SO:0001589	frameshift_variant	90624							g.chr5:130517950_130517951insA	BC047079	CCDS4148.1	5q31.1	2013-05-24	2012-10-23	2006-10-17	ENSG00000186687	ENSG00000186687		"LYR motif containing"	28072	protein-coding gene	gene with protein product		615831	"chromosome 5 open reading frame 31", "Lyrm7 homolog (mouse)"	C5orf31		23168492	Standard	NM_181705		Approved	FLJ20796, MZM1L	uc003kvg.1	Q5U5X0	OTTHUMG00000128994	ENST00000379380.4:c.125dupA	5.37:g.130517955_130517955dupA	ENSP00000368688:p.Lys41fs					LYRM7_ENST00000507584.1_Frame_Shift_Ins_p.LK40fs|LYRM7_ENST00000510516.1_Intron	p.LK40fs	NM_181705.2	NP_859056.2	Q5U5X0	LYRM7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	331_332	+		all_cancers(142;0.0377)|Breast(839;0.198)	40					A8MPQ9|Q86Y68	Frame_Shift_Ins	INS	ENST00000379380.4	37	c.120_121insA	CCDS4148.1																																																																																				0.243	LYRM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250983.1	NM_181705		2	4						2	4	---	---	---	---	A	130517951	-	A	130517950	7	5	339	1	0	1	1	0	0	0	0	0	9123	825	29	0	130	0	LYRM7	5	130517950	Frame_Shift_Ins	INS	-	TCGA-EM-A3SY-01A-11D-A22Z-08		130517950	50397310	5	7242											
RPS12	6206	broad.mit.edu	37	chr6	133138134	133138134	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaactaggagaatgggtaggCctttgtaaaattgacagaga	12	4	0	3			TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr6:133138134C>G	ENST00000230050.3	+	5	480	c.270C>G	c.(268-270)ggC>ggG	p.G90G	SNORD100_ENST00000408573.1_RNA|SNORA33_ENST00000363664.1_RNA|SNORD101_ENST00000384027.1_RNA	NM_001016.3	NP_001007.2	P25398	RS12_HUMAN	ribosomal protein S12	90					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(13)|lung(3)|urinary_tract(1)	18	Breast(56;0.214)			OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)		AATGGGTAGGCCTTTGTAAAA	0.358																																						ENST00000230050.3																			0				endometrium(1)|kidney(13)|lung(3)|urinary_tract(1)	18						c.(268-270)ggC>ggG		ribosomal protein S12							69	67	67					6																	133138134		2203	4300	6503	SO:0001819	synonymous_variant	6206				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	structural constituent of ribosome	g.chr6:133138134C>G	X53505	CCDS5164.1	6q23	2011-04-05			ENSG00000112306	ENSG00000112306		"S ribosomal proteins"	10385	protein-coding gene	gene with protein product		603660				1861993, 9582194	Standard	NM_001016		Approved	S12	uc003qdx.3	P25398	OTTHUMG00000015593	ENST00000230050.3:c.270C>G	6.37:g.133138134C>G							p.G90G	NM_001016.3	NP_001007.2	P25398	RS12_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)	5	480	+	Breast(56;0.214)		90					Q76M58	Silent	SNP	ENST00000230050.3	37	c.270C>G	CCDS5164.1																																																																																				0.358	RPS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042270.2	NM_001016		5	55	0	0	0	1	0	5	55					G	133138134	C	G	133138134	2	3	339	1	0	0	0	0	0	0	0	1	13622	726	26	4		4	RPS12	6	133138134	Silent	SNP	C	TCGA-EM-A3SY-01A-11D-A22Z-08		133138134	37976933	6	7243											
TMEM184A	202915	broad.mit.edu	37	chr7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC													ctcccgccggagccgccgctINSggggtgggtgccgggcctgg					rs3837151|rs3779607	byFrequency	TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)cccagc>cccGGCagc	p.389_390PS>PGS	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389			S -> G (in dbSNP:rs3779607). {ECO:0000269|PubMed:15489334}.		germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(1165-1170)ccgcgg>ccGGCgcgg		transmembrane protein 184A				1912,2170		535,842,664						-3.6	0.0		dbSNP_132	17	3872,4214		1028,1816,1199	no	coding	TMEM184A	NM_001097620.1		1563,2658,1863	A1A1,A1R,RR		47.8852,46.8398,47.5345				5784,6384				SO:0001652	inframe_insertion	202915					integral to membrane		g.chr7:1586662_1586663insGCC		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1167_1168insGGC	7.37:g.1586662_1586663insGCC	ENSP00000297477:p.Pro389_Ser390insGly						p.389_390PR>PAR	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	9	1483_1484	-		Ovarian(82;0.0253)	389					Q8TBQ6	In_Frame_Ins	INS	ENST00000297477.5	37	c.1167_1168insGGC	CCDS43537.1																																																																																				0.703	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		7	28						7	28	---	---	---	---	GCC	1586663	-	GCC	1586662	7	5	339	1	0	1	1	0	0	0	0	0	16101	1580	55	0	77	0	TMEM184A	7	1586662	In_Frame_Ins	INS	-	TCGA-EM-A3SY-01A-11D-A22Z-08		1586662	157552001	7	7244											
ATAD2	29028	broad.mit.edu	37	chr8	124351559	124351559	+	Frame_Shift_Del	DEL	T	T	-													atagaaactaacctgctttcTtttttgatataggaggctta							TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr8:124351559delT	ENST00000287394.5	-	20	2953	c.2846delA	c.(2845-2847)aagfs	p.K950fs	ATAD2_ENST00000521903.1_Frame_Shift_Del_p.K268fs	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	950					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ACCTGCTTTCTTTTTTGATAT	0.299																																						ENST00000287394.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.(2845-2847)agfs		ATPase family, AAA domain containing 2							39	38	39					8																	124351559		2196	4290	6486	SO:0001589	frameshift_variant	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124351559delT	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"ATPases / AAA-type"	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.2846delA	8.37:g.124351559delT	ENSP00000287394:p.Lys950fs					ATAD2_ENST00000521903.1_Frame_Shift_Del_p.K268fs	p.K950fs	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		20	2953	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		950					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Frame_Shift_Del	DEL	ENST00000287394.5	37	c.2846delA	CCDS6343.1																																																																																				0.299	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		2	4						2	4	---	---	---	---	-	124351559	T	-	124351559	7	5	339	1	0	1	0	1	0	0	0	0	1071	1609	56	0	1362	0	ATAD2	8	124351559	Frame_Shift_Del	DEL	T	TCGA-EM-A3SY-01A-11D-A22Z-08		124351559	22012463	8	7245											
OR5B17	219965	broad.mit.edu	37	chr11	58126103	58126103	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cattcagaaaaccaatgacaTaacagcctatagccagacaa	5	11	1	3			TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr11:58126103T>A	ENST00000357377.3	-	1	439	c.440A>T	c.(439-441)tAt>tTt	p.Y147F		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ACCAATGACATAACAGCCTAT	0.443																																						ENST00000357377.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(439-441)tAt>tTt		olfactory receptor, family 5, subfamily B, member 17							99	93	95					11																	58126103		2201	4295	6496	SO:0001583	missense	219965				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58126103T>A	AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786		"GPCR / Class A : Olfactory receptors"	15267	protein-coding gene	gene with protein product				OR5B20P			Standard	NM_001005489		Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.440A>T	11.37:g.58126103T>A	ENSP00000349945:p.Tyr147Phe						p.Y147F	NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN			1	439	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	147					Q6IEX1	Missense_Mutation	SNP	ENST00000357377.3	37	c.440A>T	CCDS31548.1	.	.	.	.	.	.	.	.	.	.	t	12.93	2.084460	0.36758	.	.	ENSG00000197786	ENST00000357377	T	0.37411	1.2	3.27	3.27	0.37495	GPCR, rhodopsin-like superfamily (1);	0.239938	0.21518	U	0.073264	T	0.40670	0.1126	M	0.66297	2.02	0.09310	N	1	P	0.49185	0.92	P	0.51742	0.678	T	0.31475	-0.9942	10	0.45353	T	0.12	.	2.6908	0.05120	0.2274:0.1256:0.0:0.647	.	147	Q8NGF7	OR5BH_HUMAN	F	147	ENSP00000349945:Y147F	ENSP00000349945:Y147F	Y	-	2	0	OR5B17	57882679	0.000000	0.05858	0.006000	0.13384	0.008000	0.06430	-0.177000	0.09796	1.363000	0.46019	0.378000	0.23410	TAT		0.443	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394708.2	NM_001005489		26	49	0	0	0	1	0	26	49					A	58126103	T	A	58126103	3	1	339	1	0	0	0	0	1	0	0	0	11149	1406	49	5	506	5	OR5B17	11	58126103	Missense_Mutation	SNP	T	TCGA-EM-A3SY-01A-11D-A22Z-08		58126103	76880413	9	7246											
SNX19	399979	broad.mit.edu	37	chr11	130785254	130785254	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggatgtggggcagtcgccCggcagtaagcctcccagagg	16	12	0	1	rs181345241		TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr11:130785254C>T	ENST00000265909.4	-	1	1150	c.581G>A	c.(580-582)cGg>cAg	p.R194Q	SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.R194Q|SNX19_ENST00000539184.1_Intron	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	194	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GGCAGTCGCCCGGCAGTAAGC	0.592													C|||	1	0.000199681	0	0	5008	,	,		20811	0.001		0	False		,,,				2504	0					ENST00000265909.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35						c.(580-582)cGg>cAg		sorting nexin 19							36	35	35					11																	130785254		2201	4297	6498	SO:0001583	missense	399979				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr11:130785254C>T	D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"Sorting nexins"	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.581G>A	11.37:g.130785254C>T	ENSP00000265909:p.Arg194Gln					SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.R194Q|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000528555.1_Intron	p.R194Q	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	1	1150	-	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)	194			PXA.		E9PKB9|Q8IV55	Missense_Mutation	SNP	ENST00000265909.4	37	c.581G>A	CCDS31721.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	4.630	0.117063	0.08881	.	.	ENSG00000120451	ENST00000265909;ENST00000533214	T;T	0.15139	2.83;2.45	5.21	-8.07	0.01098	Phox-associated domain (2);PX-associated, sorting nexin 13 (1);	1.011150	0.07907	N	0.973648	T	0.10121	0.0248	N	0.17082	0.46	0.19775	N	0.99995	B;B	0.15473	0.013;0.0	B;B	0.08055	0.003;0.001	T	0.27054	-1.0085	10	0.34782	T	0.22	-1.0503	16.2974	0.82783	0.0:0.5533:0.0:0.4467	.	194;194	E9PKB9;Q92543	.;SNX19_HUMAN	Q	194	ENSP00000265909:R194Q;ENSP00000435390:R194Q	ENSP00000265909:R194Q	R	-	2	0	SNX19	130290464	0.000000	0.05858	0.001000	0.08648	0.489000	0.33432	-1.363000	0.02592	-1.576000	0.01652	-0.474000	0.04947	CGG		0.592	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758		6	33	0	0	0	1	0	6	33					T	130785254	C	T	130785254	3	4	339	1	0	0	0	0	1	0	0	0	14890	652	23	1	2441	1	SNX19	11	130785254	Missense_Mutation	SNP	C	TCGA-EM-A3SY-01A-11D-A22Z-08	72659151	130785254	4221262	10	7247											
GPRC5D	55507	broad.mit.edu	37	chr12	13102506	13102514	+	In_Frame_Del	DEL	CTGTCTACA	CTGTCTACA	-													ttgccttgtaaagggcactcCtgtctacacgatctgtagag							TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr12:13102506_13102514delCTGTCTACA	ENST00000228887.1	-	1	804_812	c.805_813delTGTAGACAG	c.(805-813)tgtagacagdel	p.CRQ269del	RP11-392P7.6_ENST00000542078.1_RNA|GPRC5D_ENST00000396333.3_In_Frame_Del_p.CRQ269del|RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000540198.1_RNA|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000538231.1_RNA	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, class C, group 5, member D	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		AAGGGCACTCCTGTCTACACGATCTGTAG	0.56																																						ENST00000228887.1																			0				kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(805-813)del		G protein-coupled receptor, family C, group 5, member D																																				SO:0001651	inframe_deletion	55507					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:13102506_13102514delCTGTCTACA	AF209923	CCDS8658.1	12p13.3	2014-01-30	2014-01-30		ENSG00000111291	ENSG00000111291		"GPCR / Class C : Orphans"	13310	protein-coding gene	gene with protein product		607437	"G protein-coupled receptor, family C, group 5, member D"				Standard	XM_005253421		Approved		uc010shp.2	Q9NZD1	OTTHUMG00000168711	ENST00000228887.1:c.805_813delTGTAGACAG	12.37:g.13102506_13102514delCTGTCTACA	ENSP00000228887:p.Cys269_Gln271del					RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000540198.1_RNA|RP11-392P7.6_ENST00000536029.1_RNA|GPRC5D_ENST00000396333.3_In_Frame_Del_p.CRQ269del|RP11-392P7.6_ENST00000545914.1_RNA	p.CRQ269del	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.15)	1	804_812	-		Prostate(47;0.183)	269					Q3KNV3|Q7Z5J9|Q8TDS6	In_Frame_Del	DEL	ENST00000228887.1	37	c.805_813delTGTAGACAG	CCDS8658.1																																																																																				0.56	GPRC5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400687.1			11	125						11	125	---	---	---	---	-	13102514	CTGTCTACA	-	13102506	7	5	339	1	0	1	0	1	0	0	0	0	6727	680	24	0	234	0	GPRC5D	12	13102506	In_Frame_Del	DEL	CTGTCTACA	TCGA-EM-A3SY-01A-11D-A22Z-08		13102506	120749389	11	7248											
CTAGE5	4253	broad.mit.edu	37	chr14	39818104	39818104	+	Missense_Mutation	SNP	C	C	T													tcctttccccccacctcctcCaggagccatgtttggagctt							TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr14:39818104C>T	ENST00000280083.3	+	23	2485	c.2171C>T	c.(2170-2172)cCa>cTa	p.P724L	CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000557038.1_Missense_Mutation_p.P644L|CTAGE5_ENST00000341502.5_Missense_Mutation_p.P724L|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.P1259L|CTAGE5_ENST00000553352.1_Missense_Mutation_p.P695L|CTAGE5_ENST00000556148.1_Missense_Mutation_p.P649L|CTAGE5_ENST00000396165.4_Missense_Mutation_p.P695L|CTAGE5_ENST00000396158.2_Missense_Mutation_p.P729L|CTAGE5_ENST00000348007.3_Missense_Mutation_p.P681L|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.P695L|CTAGE5_ENST00000341749.3_Missense_Mutation_p.P712L			O15320	CTGE5_HUMAN	CTAGE family, member 5	724	Pro-rich.				positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		CCACCTCCTCCAGGAGCCATG	0.483																																						ENST00000553728.1																			0											c.(3775-3777)cCa>cTa									91	97	95					14																	39818104		2203	4300	6503	SO:0001583	missense	0							g.chr14:39818104C>T	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"meningioma expressed antigen 6 (coiled-coil proline-rich)"	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.2171C>T	14.37:g.39818104C>T	ENSP00000280083:p.Pro724Leu					CTAGE5_ENST00000348007.3_Missense_Mutation_p.P681L|CTAGE5_ENST00000341502.5_Missense_Mutation_p.P724L|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.P695L|CTAGE5_ENST00000396158.2_Missense_Mutation_p.P729L|CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000556148.1_Missense_Mutation_p.P649L|CTAGE5_ENST00000557038.1_Missense_Mutation_p.P644L|CTAGE5_ENST00000396165.4_Missense_Mutation_p.P695L|CTAGE5_ENST00000553352.1_Missense_Mutation_p.P695L|CTAGE5_ENST00000341749.3_Missense_Mutation_p.P712L|CTAGE5_ENST00000280083.3_Missense_Mutation_p.P724L	p.P1259L							27	3989	+								B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	ENST00000280083.3	37	c.3776C>T	CCDS9674.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.242730	0.58995	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47	5.4	5.4	0.78164	.	0.242308	0.21599	N	0.071969	T	0.81772	0.4893	M	0.83312	2.635	0.50313	D	0.999861	D;P;D;P;D	0.53151	0.958;0.867;0.958;0.947;0.958	P;P;P;P;P	0.54140	0.743;0.564;0.743;0.676;0.743	T	0.83353	-0.0002	9	.	.	.	.	16.934	0.86198	0.0:1.0:0.0:0.0	.	729;681;724;652;712	O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;CTGE5_HUMAN;.;.	L	1259;712;644;695;724;729;724;649;681;695	ENSP00000452252:P1259L;ENSP00000343897:P712L;ENSP00000450869:P644L;ENSP00000379468:P695L;ENSP00000339286:P724L;ENSP00000379462:P729L;ENSP00000280083:P724L;ENSP00000452562:P649L;ENSP00000343912:P681L;ENSP00000450449:P695L	.	P	+	2	0	CTAGE5;RP11-407N17.3	38887855	1.000000	0.71417	0.986000	0.45419	0.101000	0.19017	4.442000	0.59988	2.524000	0.85096	0.655000	0.94253	CCA		0.483	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		4	87	0	0	0	1	0	4	87					T	39818104	C	T	39818104	3	4	339	1	0	0	0	0	1	0	0	0	3994	594	21	2	2292	2	CTAGE5	14	39818104	Missense_Mutation	SNP	C	TCGA-EM-A3SY-01A-11D-A22Z-08		39818104	67531436	12	7249	40	3									
CTAGE5	4253	broad.mit.edu	37	chr14	39818109	39818109	+	Missense_Mutation	SNP	G	G	A													tccccccacctcctccaggaGccatgtttggagcttctcga							TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr14:39818109G>A	ENST00000280083.3	+	23	2490	c.2176G>A	c.(2176-2178)Gcc>Acc	p.A726T	CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000557038.1_Missense_Mutation_p.A646T|CTAGE5_ENST00000341502.5_Missense_Mutation_p.A726T|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.A1261T|CTAGE5_ENST00000553352.1_Missense_Mutation_p.A697T|CTAGE5_ENST00000556148.1_Missense_Mutation_p.A651T|CTAGE5_ENST00000396165.4_Missense_Mutation_p.A697T|CTAGE5_ENST00000396158.2_Missense_Mutation_p.A731T|CTAGE5_ENST00000348007.3_Missense_Mutation_p.A683T|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.A697T|CTAGE5_ENST00000341749.3_Missense_Mutation_p.A714T			O15320	CTGE5_HUMAN	CTAGE family, member 5	726	Pro-rich.				positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TCCTCCAGGAGCCATGTTTGG	0.478																																						ENST00000553728.1																			0											c.(3781-3783)Gcc>Acc									89	96	94					14																	39818109		2203	4299	6502	SO:0001583	missense	0							g.chr14:39818109G>A	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"meningioma expressed antigen 6 (coiled-coil proline-rich)"	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.2176G>A	14.37:g.39818109G>A	ENSP00000280083:p.Ala726Thr					CTAGE5_ENST00000348007.3_Missense_Mutation_p.A683T|CTAGE5_ENST00000341502.5_Missense_Mutation_p.A726T|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.A697T|CTAGE5_ENST00000396158.2_Missense_Mutation_p.A731T|CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000556148.1_Missense_Mutation_p.A651T|CTAGE5_ENST00000557038.1_Missense_Mutation_p.A646T|CTAGE5_ENST00000396165.4_Missense_Mutation_p.A697T|CTAGE5_ENST00000553352.1_Missense_Mutation_p.A697T|CTAGE5_ENST00000341749.3_Missense_Mutation_p.A714T|CTAGE5_ENST00000280083.3_Missense_Mutation_p.A726T	p.A1261T							27	3994	+								B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	ENST00000280083.3	37	c.3781G>A	CCDS9674.1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.501682	0.01001	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.52	-1.53	0.08611	.	1.365090	0.05232	N	0.510506	T	0.09379	0.0231	N	0.00116	-2.08	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.0;0.001	T	0.25047	-1.0143	9	.	.	.	.	6.8506	0.24012	0.4417:0.135:0.4233:0.0	.	731;683;726;654;714	O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;CTGE5_HUMAN;.;.	T	1261;714;646;697;726;731;726;651;683;697	ENSP00000452252:A1261T;ENSP00000343897:A714T;ENSP00000450869:A646T;ENSP00000379468:A697T;ENSP00000339286:A726T;ENSP00000379462:A731T;ENSP00000280083:A726T;ENSP00000452562:A651T;ENSP00000343912:A683T;ENSP00000450449:A697T	.	A	+	1	0	CTAGE5;RP11-407N17.3	38887860	0.138000	0.22547	0.013000	0.15412	0.031000	0.12232	0.085000	0.14912	-0.161000	0.10983	-0.290000	0.09829	GCC		0.478	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		4	81	0	0	0	1	0	4	81					A	39818109	G	A	39818109	3	1	339	1	0	0	0	0	1	0	0	0	3994	971	34	2	2297	2	CTAGE5	14	39818109	Missense_Mutation	SNP	G	TCGA-EM-A3SY-01A-11D-A22Z-08	5	39818109	67531431	13	7250	40	3									
CTAGE5	4253	broad.mit.edu	37	chr14	39818117	39818117	+	Missense_Mutation	SNP	T	T	G													cctcctccaggagccatgttTggagcttctcgagattattt							TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr14:39818117T>G	ENST00000280083.3	+	23	2498	c.2184T>G	c.(2182-2184)ttT>ttG	p.F728L	CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000557038.1_Missense_Mutation_p.F648L|CTAGE5_ENST00000341502.5_Missense_Mutation_p.F728L|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.F1263L|CTAGE5_ENST00000553352.1_Missense_Mutation_p.F699L|CTAGE5_ENST00000556148.1_Missense_Mutation_p.F653L|CTAGE5_ENST00000396165.4_Missense_Mutation_p.F699L|CTAGE5_ENST00000396158.2_Missense_Mutation_p.F733L|CTAGE5_ENST00000348007.3_Missense_Mutation_p.F685L|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.F699L|CTAGE5_ENST00000341749.3_Missense_Mutation_p.F716L			O15320	CTGE5_HUMAN	CTAGE family, member 5	728	Pro-rich.				positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		GAGCCATGTTTGGAGCTTCTC	0.468																																						ENST00000553728.1																			0											c.(3787-3789)ttT>ttG									87	94	92					14																	39818117		2203	4300	6503	SO:0001583	missense	0							g.chr14:39818117T>G	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"meningioma expressed antigen 6 (coiled-coil proline-rich)"	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.2184T>G	14.37:g.39818117T>G	ENSP00000280083:p.Phe728Leu					CTAGE5_ENST00000348007.3_Missense_Mutation_p.F685L|CTAGE5_ENST00000341502.5_Missense_Mutation_p.F728L|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.F699L|CTAGE5_ENST00000396158.2_Missense_Mutation_p.F733L|CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000556148.1_Missense_Mutation_p.F653L|CTAGE5_ENST00000557038.1_Missense_Mutation_p.F648L|CTAGE5_ENST00000396165.4_Missense_Mutation_p.F699L|CTAGE5_ENST00000553352.1_Missense_Mutation_p.F699L|CTAGE5_ENST00000341749.3_Missense_Mutation_p.F716L|CTAGE5_ENST00000280083.3_Missense_Mutation_p.F728L	p.F1263L							27	4002	+								B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	ENST00000280083.3	37	c.3789T>G	CCDS9674.1	.	.	.	.	.	.	.	.	.	.	T	9.961	1.222934	0.22457	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55	5.52	-0.884	0.10597	.	0.275573	0.19542	N	0.111771	T	0.43722	0.1260	L	0.55481	1.735	0.20873	N	0.999833	B;B;B;B;B	0.28233	0.204;0.167;0.204;0.167;0.091	B;B;B;B;B	0.30401	0.115;0.085;0.115;0.053;0.073	T	0.35051	-0.9804	9	.	.	.	.	10.325	0.43787	0.0:0.4572:0.0:0.5428	.	733;685;728;656;716	O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;CTGE5_HUMAN;.;.	L	1263;716;648;699;728;733;728;653;685;699	ENSP00000452252:F1263L;ENSP00000343897:F716L;ENSP00000450869:F648L;ENSP00000379468:F699L;ENSP00000339286:F728L;ENSP00000379462:F733L;ENSP00000280083:F728L;ENSP00000452562:F653L;ENSP00000343912:F685L;ENSP00000450449:F699L	.	F	+	3	2	CTAGE5;RP11-407N17.3	38887868	0.998000	0.40836	0.142000	0.22268	0.039000	0.13416	0.188000	0.17018	-0.156000	0.11079	0.533000	0.62120	TTT		0.468	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		4	80	0	0	0	1	0	4	80					G	39818117	T	G	39818117	3	3	339	1	0	0	0	0	1	0	0	0	3994	1809	63	5	2305	5	CTAGE5	14	39818117	Missense_Mutation	SNP	T	TCGA-EM-A3SY-01A-11D-A22Z-08	8	39818117	67531423	14	7251	40	3									
OTUD7A	161725	broad.mit.edu	37	chr15	31779437	31779437	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatccacgtcacgttcatgTagctgtgcagaaggttcagc	12	10	3	1			TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr15:31779437T>C	ENST00000307050.4	-	10	1402	c.1310A>G	c.(1309-1311)tAc>tGc	p.Y437C	OTUD7A_ENST00000382902.1_Missense_Mutation_p.Y444C	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	437	Catalytic. {ECO:0000250}.				protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CACGTTCATGTAGCTGTGCAG	0.567																																						ENST00000382902.1																			0				endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(1330-1332)tAc>tGc		OTU domain containing 7A							131	102	112					15																	31779437		2202	4300	6502	SO:0001583	missense	161725					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	g.chr15:31779437T>C	AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"OTU domain containing"	20718	protein-coding gene	gene with protein product		612024	"chromosome 15 open reading frame 16", "OTU domain containing 7", "OTU domain containing 7A"	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.1310A>G	15.37:g.31779437T>C	ENSP00000305926:p.Tyr437Cys					OTUD7A_ENST00000307050.4_Missense_Mutation_p.Y437C	p.Y444C			Q8TE49	OTU7A_HUMAN		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)	10	1423	-		all_lung(180;1.6e-09)	437			Catalytic (By similarity).		Q8IWK5	Missense_Mutation	SNP	ENST00000307050.4	37	c.1331A>G	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.124480	0.77436	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.55588	0.52;0.51	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.73110	0.3545	M	0.79926	2.475	0.53688	D	0.99997	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.78135	-0.2322	10	0.87932	D	0	-27.3446	14.293	0.66292	0.0:0.0:0.0:1.0	.	444;437	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	C	437;444	ENSP00000305926:Y437C;ENSP00000372358:Y444C	ENSP00000305926:Y437C	Y	-	2	0	OTUD7A	29566729	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	5.500000	0.66943	1.814000	0.52955	0.459000	0.35465	TAC		0.567	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901		3	35	0	0	0	1	0	3	35					C	31779437	T	C	31779437	3	2	339	1	0	0	0	0	1	0	0	0	11318	1638	57	3	1478	3	OTUD7A	15	31779437	Missense_Mutation	SNP	T	TCGA-EM-A3SY-01A-11D-A22Z-08		31779437	70751955	15	7252											
RPTOR	57521	broad.mit.edu	37	chr17	78796978	78796978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtcgtataactgcactcCcgtcagcagcccgcgtctgc	11	15	2	0			TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr17:78796978C>T	ENST00000306801.3	+	9	1453	c.1091C>T	c.(1090-1092)cCc>cTc	p.P364L	RPTOR_ENST00000537330.1_Missense_Mutation_p.P179L|RPTOR_ENST00000544334.2_Missense_Mutation_p.P364L|RPTOR_ENST00000570891.1_Missense_Mutation_p.P364L|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	364					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						AACTGCACTCCCGTCAGCAGC	0.552																																						ENST00000306801.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						c.(1090-1092)cCc>cTc		regulatory associated protein of MTOR, complex 1							100	102	102					17																	78796978		2203	4300	6503	SO:0001583	missense	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78796978C>T		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"WD repeat domain containing"	30287	protein-coding gene	gene with protein product	"regulatory associated protein of mTOR"	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.1091C>T	17.37:g.78796978C>T	ENSP00000307272:p.Pro364Leu					RPTOR_ENST00000570891.1_Missense_Mutation_p.P364L|RPTOR_ENST00000544334.2_Missense_Mutation_p.P364L|RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000537330.1_Missense_Mutation_p.P179L	p.P364L	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN			9	1453	+			364					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	c.1091C>T	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183178	0.78677	.	.	ENSG00000141564	ENST00000537330;ENST00000306801;ENST00000544334	T;T	0.70399	-0.48;-0.45	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.89667	0.6781	H	0.96365	3.81	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.80764	0.994;0.988;0.928	D	0.92803	0.6258	10	0.87932	D	0	.	19.1163	0.93343	0.0:1.0:0.0:0.0	.	364;179;364	F5H7J5;F5GXV9;Q8N122	.;.;RPTOR_HUMAN	L	179;364;364	ENSP00000307272:P364L;ENSP00000442479:P364L	ENSP00000307272:P364L	P	+	2	0	RPTOR	76411573	1.000000	0.71417	0.905000	0.35620	0.297000	0.27493	7.418000	0.80167	2.513000	0.84729	0.650000	0.86243	CCC		0.552	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		42	63	0	0	0	1	0	42	63					T	78796978	C	T	78796978	3	4	339	1	0	0	0	0	1	0	0	0	13665	623	22	2	1125	2	RPTOR	17	78796978	Missense_Mutation	SNP	C	TCGA-EM-A3SY-01A-11D-A22Z-08		78796978	2398232	16	7253											
COL5A3	50509	broad.mit.edu	37	chr19	10108796	10108796	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accttttcaatcactgcgggCtctccttttgctcctttctc	5	15	4	0			TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr19:10108796C>A	ENST00000264828.3	-	9	1225	c.1140G>T	c.(1138-1140)gaG>gaT	p.E380D	CTD-2553C6.1_ENST00000592332.1_RNA	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	380	Nonhelical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCACTGCGGGCTCTCCTTTTG	0.537																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(1138-1140)gaG>gaT		collagen, type V, alpha 3							228	212	217					19																	10108796		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10108796C>A	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.1140G>T	19.37:g.10108796C>A	ENSP00000264828:p.Glu380Asp						p.E380D	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		9	1225	-			380			Nonhelical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.1140G>T	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124701	0.56613	.	.	ENSG00000080573	ENST00000264828	D	0.91295	-2.82	4.75	-6.21	0.02065	.	0.000000	0.64402	D	0.000001	D	0.92289	0.7554	L	0.61036	1.89	0.36290	D	0.856372	D	0.69078	0.997	D	0.79108	0.992	D	0.91288	0.5057	10	0.40728	T	0.16	.	15.6478	0.77068	0.0:0.702:0.0:0.298	.	380	P25940	CO5A3_HUMAN	D	380	ENSP00000264828:E380D	ENSP00000264828:E380D	E	-	3	2	COL5A3	9969796	0.015000	0.18098	0.575000	0.28536	0.786000	0.44442	-1.543000	0.02194	-1.279000	0.02405	0.306000	0.20318	GAG		0.537	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		5	331	1	0	0.248553	1	0.248553	5	331					A	10108796	C	A	10108796	3	1	339	1	0	0	0	0	1	0	0	0	3698	796	28	4	4333	4	COL5A3	19	10108796	Missense_Mutation	SNP	C	TCGA-EM-A3SY-01A-11D-A22Z-08		10108796	49020187	17	7254											
ZNF544	27300	broad.mit.edu	37	chr19	58772400	58772402	+	In_Frame_Del	DEL	TGG	TGG	-													ggagaactccttgaggttcaTggtactcacctcagagagac							TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr19:58772400_58772402delTGG	ENST00000596652.1	+	6	662_664	c.428_430delTGG	c.(427-432)atggta>ata	p.143_144MV>I	ZNF544_ENST00000415203.2_In_Frame_Del_p.115_116MV>I|ZNF544_ENST00000600220.1_In_Frame_Del_p.115_116MV>I|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000595981.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000269829.4_In_Frame_Del_p.143_144MV>I|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000600044.1_In_Frame_Del_p.115_116MV>I|ZNF544_ENST00000599953.1_Start_Codon_Del|ZNF544_ENST00000599227.1_3'UTR			Q6NX49	ZN544_HUMAN	zinc finger protein 544	143					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TTGAGGTTCATGGTACTCACCTC	0.473																																						ENST00000269829.4																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18						c.(427-432)ata>a		zinc finger protein 544																																				SO:0001651	inframe_deletion	27300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58772400_58772402delTGG	AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"Zinc fingers, C2H2-type", "-"	16759	protein-coding gene	gene with protein product	"zinc finger protein AF020591"						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.428_430delTGG	19.37:g.58772400_58772402delTGG	ENSP00000469635:p.Met143_Val144delinsIle					CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000599227.1_3'UTR|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000596652.1_In_Frame_Del_p.MV143del|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000600044.1_In_Frame_Del_p.MV115del|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000599953.1_Start_Codon_Del|ZNF544_ENST00000600220.1_In_Frame_Del_p.MV115del|ZNF544_ENST00000415203.2_In_Frame_Del_p.MV115del|ZNF544_ENST00000596825.1_3'UTR	p.MV143del	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	7	902_904	+		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	143					A8K6J1|Q9UEX4	In_Frame_Del	DEL	ENST00000596652.1	37	c.428_430delTGG	CCDS12973.1																																																																																				0.473	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480		20	53						20	53	---	---	---	---	-	58772402	TGG	-	58772400	7	5	339	1	0	1	0	1	0	0	0	0	17974	1464	51	0	442	0	ZNF544	19	58772400	In_Frame_Del	DEL	TGG	TCGA-EM-A3SY-01A-11D-A22Z-08	48663604	58772400	356583	18	7255											
PLA2G6	8398	broad.mit.edu	37	chr22	38531030	38531030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtggagggggctggctcCgtaacgggggtctttgctgt	18	9	1	0			TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr22:38531030C>T	ENST00000332509.3	-	6	1042	c.859G>A	c.(859-861)Gga>Aga	p.G287R	PLA2G6_ENST00000335539.3_Missense_Mutation_p.G287R|PLA2G6_ENST00000402064.1_Missense_Mutation_p.G287R	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	287					cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GGGCTGGCTCCGTAACGGGGG	0.662																																						ENST00000332509.3																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(859-861)Gga>Aga		phospholipase A2, group VI (cytosolic, calcium-independent)	Quinacrine(DB01103)						55	56	56					22																	38531030		2203	4300	6503	SO:0001583	missense	8398				cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane		g.chr22:38531030C>T	AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"Patatin-like phospholipase domain containing", "Parkinson disease", "Ankyrin repeat domain containing"	9039	protein-coding gene	gene with protein product	"neurodegeneration with brain iron accumulation 2"	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.859G>A	22.37:g.38531030C>T	ENSP00000333142:p.Gly287Arg					PLA2G6_ENST00000335539.3_Missense_Mutation_p.G287R|PLA2G6_ENST00000402064.1_Missense_Mutation_p.G287R	p.G287R	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN			6	1042	-	Melanoma(58;0.045)		287					A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	37	c.859G>A	CCDS13967.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821662	0.90873	.	.	ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064;ENST00000335538;ENST00000396860;ENST00000451461	T;T;T	0.59772	0.24;0.24;0.24	5.67	5.67	0.87782	Ankyrin repeat-containing domain (3);	0.154883	0.64402	D	0.000018	T	0.77980	0.4212	M	0.85041	2.73	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.70935	0.962;0.884;0.971	T	0.81254	-0.1016	10	0.87932	D	0	-11.6042	15.2807	0.73781	0.0:0.8604:0.1396:0.0	.	252;287;287	B7Z6K3;O60733-2;O60733	.;.;PA2G6_HUMAN	R	287;148;287;287;215;287;252	ENSP00000333142:G287R;ENSP00000335149:G287R;ENSP00000386100:G287R	ENSP00000333142:G287R	G	-	1	0	PLA2G6	36860976	0.994000	0.37717	0.985000	0.45067	0.948000	0.59901	4.085000	0.57657	2.667000	0.90743	0.561000	0.74099	GGA		0.662	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426		5	36	0	0	0	1	0	5	36					T	38531030	C	T	38531030	3	4	339	1	0	0	0	0	1	0	0	0	12008	661	23	1	1609	1	PLA2G6	22	38531030	Missense_Mutation	SNP	C	TCGA-EM-A3SY-01A-11D-A22Z-08		38531030	12773536	19	7256											
BRWD3	254065	broad.mit.edu	37	chrX	79951458	79951458	+	Frame_Shift_Del	DEL	G	G	-													ataaaactgatgtagcacaaGgaagtcaatgacatccggca							TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chrX:79951458delG	ENST00000373275.4	-	27	3316	c.3100delC	c.(3100-3102)cttfs	p.L1034fs	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1034					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TGTAGCACAAGGAAGTCAATG	0.308																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(3100-3102)ttfs		bromodomain and WD repeat domain containing 3							76	69	71					X																	79951458		2203	4295	6498	SO:0001589	frameshift_variant	254065							g.chrX:79951458delG		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.3100delC	X.37:g.79951458delG	ENSP00000362372:p.Leu1034fs					BRWD3_ENST00000473691.1_5'UTR	p.L1034fs	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			27	3316	-			1034					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Frame_Shift_Del	DEL	ENST00000373275.4	37	c.3100delC	CCDS14447.1																																																																																				0.308	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		7	8						7	8	---	---	---	---	-	79951458	G	-	79951458	7	5	339	1	0	1	0	1	0	0	0	0	1526	1000	35	0	2368	0	BRWD3	23	79951458	Frame_Shift_Del	DEL	G	TCGA-EM-A3SY-01A-11D-A22Z-08		79951458	75319102	20	7257											
F8	2157	broad.mit.edu	37	chrX	154197827	154197827	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcctgtggcatccaatcagaCctgtaaagtaggaataagac	9	9	1	2			TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chrX:154197827C>G	ENST00000360256.4	-	7	988	c.788G>C	c.(787-789)gGt>gCt	p.G263A		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	263	F5/8 type A 1.|Plastocyanin-like 2.		G -> S (in HEMA). {ECO:0000269|PubMed:8639447}.		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCCAATCAGACCTGTAAAGTA	0.408																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	GRCh37	CM070106	F8	M		c.e7-1		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						101	87	91					X																	154197827		2203	4300	6503	SO:0001630	splice_region_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154197827C>G	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.788-1G>C	X.37:g.154197827C>G							p.G263_splice	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			7	988	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		263		G -> S (in HEMA).	F5/8 type A 1.|Plastocyanin-like 2.		Q14286|Q5HY69	Splice_Site	SNP	ENST00000360256.4	37	c.787_splice	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093148	0.56075	.	.	ENSG00000185010	ENST00000360256	D	0.99769	-6.7	5.51	4.53	0.55603	Cupredoxin (2);Multicopper oxidase, type 1 (1);	0.170332	0.51477	D	0.000095	D	0.99641	0.9868	M	0.82517	2.595	0.35282	D	0.781386	D	0.71674	0.998	D	0.74348	0.983	D	0.98290	1.0513	10	0.66056	D	0.02	.	7.7439	0.28858	0.0:0.8338:0.0:0.1662	.	263	P00451	FA8_HUMAN	A	263	ENSP00000353393:G263A	ENSP00000353393:G263A	G	-	2	0	F8	153851021	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	1.973000	0.40550	2.305000	0.77605	0.544000	0.68410	GGT		0.408	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		Missense_Mutation	13	28	0	0	0	1	0	13	28					G	154197827	C	G	154197827	5	3	339	1	0	0	0	0	0	0	1	0	5350	521	18	4	6375	4	F8	23	154197827	Splice_Site	SNP	C	TCGA-EM-A3SY-01A-11D-A22Z-08	74246369	154197827	1072733	21	7258											
ABCA4	24	broad.mit.edu	37	chr1	94512531	94512531	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgcggtgatctggttctcGtagaaggtgatgttcagacg	14	6	3	4			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr1:94512531G>A	ENST00000370225.3	-	19	2948	c.2862C>T	c.(2860-2862)taC>taT	p.Y954Y	ABCA4_ENST00000535735.1_Silent_p.Y880Y	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	954	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCTGGTTCTCGTAGAAGGTGA	0.552																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(2860-2862)taC>taT		ATP-binding cassette, sub-family A (ABC1), member 4							147	149	148					1																	94512531		2203	4300	6503	SO:0001819	synonymous_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94512531G>A	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.2862C>T	1.37:g.94512531G>A						ABCA4_ENST00000535735.1_Silent_p.Y880Y	p.Y954Y	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	19	2948	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	954			ABC transporter 1.		O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	c.2862C>T	CCDS747.1																																																																																				0.552	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		15	153	0	0	0	1	0	15	153					A	94512531	G	A	94512531	2	1	340	1	0	0	0	0	0	0	0	1	34	1140	40	1		1	ABCA4	1	94512531	Silent	SNP	G	TCGA-EM-A3SZ-01A-11D-A22Z-08		94512531	154738090	1	7259											
TRIM33	51592	broad.mit.edu	37	chr1	114952912	114952912	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tatctacttagtagattatcTaaactacttgagccagcatc	5	9	2	2			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr1:114952912T>G	ENST00000358465.2	-	12	2171	c.2088A>C	c.(2086-2088)ttA>ttC	p.L696F	TRIM33_ENST00000369543.2_Missense_Mutation_p.L696F|TRIM33_ENST00000450349.2_Missense_Mutation_p.L328F	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	696			L -> S (in dbSNP:rs56151583). {ECO:0000269|PubMed:17344846}.		gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTAGATTATCTAAACTACTTG	0.413			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	" tripartite motif-containing 33 (PTC7,TIF1G)"			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(2086-2088)ttA>ttC		tripartite motif containing 33							93	96	95					1																	114952912		2203	4300	6503	SO:0001583	missense	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114952912T>G	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"Tripartite motif containing / Tripartite motif containing", "Zinc fingers, PHD-type", "RING-type (C3HC4) zinc fingers"	16290	protein-coding gene	gene with protein product	"transcriptional intermediary factor 1 gamma", "ret-fused gene 7"	605769	"tripartite motif-containing 33"			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.2088A>C	1.37:g.114952912T>G	ENSP00000351250:p.Leu696Phe					TRIM33_ENST00000450349.2_Missense_Mutation_p.L328F|TRIM33_ENST00000369543.2_Missense_Mutation_p.L696F	p.L696F	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	12	2171	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	696		L -> S (in dbSNP:rs56151583).			O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	ENST00000358465.2	37	c.2088A>C	CCDS872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.30|14.30	2.494258|2.494258	0.44352|0.44352	.|.	.|.	ENSG00000197323|ENSG00000197323	ENST00000358465;ENST00000369543;ENST00000450349|ENST00000448034	T;T;T|.	0.60171|.	0.21;0.21;0.21|.	4.82|4.82	4.82|4.82	0.62117|0.62117	.|.	0.072526|.	0.56097|.	D|.	0.000035|.	T|.	0.48352|.	0.1495|.	L|L	0.50333|0.50333	1.59|1.59	0.48511|0.48511	D|D	0.999662|0.999662	D;D;B;B|.	0.76494|.	0.998;0.999;0.046;0.027|.	D;D;B;B|.	0.73708|.	0.949;0.981;0.023;0.018|.	T|.	0.49670|.	-0.8915|.	10|.	0.48119|.	T|.	0.1|.	-7.0983|-7.0983	10.8199|10.8199	0.46599|0.46599	0.0:0.0773:0.0:0.9227|0.0:0.0773:0.0:0.9227	.|.	328;328;696;696|.	E7EN20;B3KN30;Q9UPN9-2;Q9UPN9|.	.;.;.;TRI33_HUMAN|.	F|S	696;696;328|457	ENSP00000351250:L696F;ENSP00000358556:L696F;ENSP00000412077:L328F|.	ENSP00000351250:L696F|.	L|X	-|-	3|2	2|0	TRIM33|TRIM33	114754435|114754435	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.577000|1.577000	0.36515|0.36515	1.927000|1.927000	0.55829|0.55829	0.377000|0.377000	0.23210|0.23210	TTA|TAG		0.413	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		11	27	0	0	0	1	0	11	27					G	114952912	T	G	114952912	3	3	340	1	0	0	0	0	1	0	0	0	16504	1519	53	5	1331	5	TRIM33	1	114952912	Missense_Mutation	SNP	T	TCGA-EM-A3SZ-01A-11D-A22Z-08	20440381	114952912	134297709	2	7260											
VANGL1	81839	broad.mit.edu	37	chr1	116233873	116233873	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatggaattgtgttcgtccTtaagtgcttggacttcagcc	12	8	1	0			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr1:116233873T>G	ENST00000355485.2	+	8	1719	c.1448T>G	c.(1447-1449)cTt>cGt	p.L483R	VANGL1_ENST00000369510.4_Missense_Mutation_p.L481R|VANGL1_ENST00000369509.1_Missense_Mutation_p.L483R|VANGL1_ENST00000310260.3_Missense_Mutation_p.L483R	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	483					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GTGTTCGTCCTTAAGTGCTTG	0.448																																						ENST00000355485.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27						c.(1447-1449)cTt>cGt		VANGL planar cell polarity protein 1							136	107	117					1																	116233873		2203	4300	6503	SO:0001583	missense	81839				multicellular organismal development	integral to membrane	protein binding	g.chr1:116233873T>G	AB075805	CCDS883.1, CCDS53350.1	1p13.1	2013-03-05	2013-03-05		ENSG00000173218	ENSG00000173218			15512	protein-coding gene	gene with protein product		610132	"vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)", "vang-like 1 (van gogh, Drosophila)"			11956595, 12011995	Standard	NM_001172411		Approved	STB2	uc001efv.1	Q8TAA9	OTTHUMG00000011971	ENST00000355485.2:c.1448T>G	1.37:g.116233873T>G	ENSP00000347672:p.Leu483Arg					VANGL1_ENST00000369510.3_Missense_Mutation_p.L481R|VANGL1_ENST00000369509.1_Missense_Mutation_p.L483R|VANGL1_ENST00000310260.3_Missense_Mutation_p.L483R	p.L483R	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	8	1719	+	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)	483					Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Missense_Mutation	SNP	ENST00000355485.2	37	c.1448T>G	CCDS883.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.408425	0.83340	.	.	ENSG00000173218	ENST00000355485;ENST00000369510;ENST00000310260;ENST00000369509	D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3	5.26	5.26	0.73747	.	0.063724	0.64402	D	0.000004	D	0.93789	0.8014	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95015	0.8155	10	0.87932	D	0	-9.9844	15.3505	0.74380	0.0:0.0:0.0:1.0	.	481;483	Q8TAA9-2;Q8TAA9	.;VANG1_HUMAN	R	483;481;483;483	ENSP00000347672:L483R;ENSP00000358523:L481R;ENSP00000310800:L483R;ENSP00000358522:L483R	ENSP00000310800:L483R	L	+	2	0	VANGL1	116035396	1.000000	0.71417	0.866000	0.34008	0.819000	0.46315	7.868000	0.87116	2.208000	0.71279	0.533000	0.62120	CTT		0.448	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033096.1			8	53	0	0	0	1	0	8	53					G	116233873	T	G	116233873	3	3	340	1	0	0	0	0	1	0	0	0	17116	1609	56	5	1474	5	VANGL1	1	116233873	Missense_Mutation	SNP	T	TCGA-EM-A3SZ-01A-11D-A22Z-08	1280961	116233873	133016748	3	7261											
SCN1A	6323	broad.mit.edu	37	chr2	166900318	166900318	+	Missense_Mutation	SNP	A	A	C													gcatcttcccattcgctggaAacactgccagcatccgggat							TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr2:166900318A>C	ENST00000303395.4	-	11	1903	c.1904T>G	c.(1903-1905)tTt>tGt	p.F635C	SCN1A_ENST00000409050.1_Missense_Mutation_p.F635C|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.F635C|SCN1A_ENST00000423058.2_Missense_Mutation_p.F635C|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	635					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)	ATTCGCTGGAAACACTGCCAG	0.542																																						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.(1903-1905)tTt>tGt		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						168	136	147					2																	166900318		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166900318A>C	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.1904T>G	2.37:g.166900318A>C	ENSP00000303540:p.Phe635Cys					AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.F635C|SCN1A_ENST00000375405.3_Missense_Mutation_p.F635C|SCN1A_ENST00000303395.4_Missense_Mutation_p.F635C|AC010127.3_ENST00000595268.1_RNA	p.F635C	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			11	1921	-			635					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.1904T>G	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	A	15.82	2.945439	0.53079	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73	5.05	5.05	0.67936	Domain of unknown function DUF3451 (1);	0.477131	0.21469	N	0.074040	D	0.86527	0.5954	N	0.22421	0.69	0.37822	D	0.928415	P;P;B	0.43885	0.589;0.82;0.003	B;P;B	0.44422	0.416;0.449;0.004	D	0.88586	0.3140	10	0.46703	T	0.11	.	15.0904	0.72188	1.0:0.0:0.0:0.0	.	635;635;635	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	C	635	ENSP00000407030:F635C;ENSP00000303540:F635C;ENSP00000364554:F635C;ENSP00000386312:F635C	ENSP00000303540:F635C	F	-	2	0	SCN1A	166608564	1.000000	0.71417	0.996000	0.52242	0.945000	0.59286	6.273000	0.72581	2.026000	0.59711	0.459000	0.35465	TTT		0.542	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		6	67	0	0	0	1	0	6	67					C	166900318	A	C	166900318	3	2	340	1	0	0	0	0	1	0	0	0	13914	14	1	5	4189	5	SCN1A	2	166900318	Missense_Mutation	SNP	A	TCGA-EM-A3SZ-01A-11D-A22Z-08		166900318	76299055	4	7262	41	2									
SCN1A	6323	broad.mit.edu	37	chr2	166900322	166900322	+	Missense_Mutation	SNP	C	C	G													cttcccattcgctggaaacaCtgccagcatccgggatgacc							TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr2:166900322C>G	ENST00000303395.4	-	11	1899	c.1900G>C	c.(1900-1902)Gtg>Ctg	p.V634L	SCN1A_ENST00000409050.1_Missense_Mutation_p.V634L|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.V634L|SCN1A_ENST00000423058.2_Missense_Mutation_p.V634L|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	634					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)	GCTGGAAACACTGCCAGCATC	0.537																																						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.(1900-1902)Gtg>Ctg		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						170	137	149					2																	166900322		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166900322C>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.1900G>C	2.37:g.166900322C>G	ENSP00000303540:p.Val634Leu					AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.V634L|SCN1A_ENST00000375405.3_Missense_Mutation_p.V634L|SCN1A_ENST00000303395.4_Missense_Mutation_p.V634L|AC010127.3_ENST00000595268.1_RNA	p.V634L	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			11	1917	-			634					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.1900G>C	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.950122	0.34377	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	T;T;T;D	0.90504	-0.54;-0.54;-0.54;-2.68	5.05	3.15	0.36227	Domain of unknown function DUF3451 (1);	0.523000	0.17608	N	0.168184	D	0.84656	0.5520	L	0.31420	0.93	0.30886	N	0.730922	B;B;B	0.21071	0.0;0.0;0.051	B;B;B	0.24155	0.0;0.001;0.051	T	0.77086	-0.2718	10	0.27785	T	0.31	.	13.3369	0.60522	0.0:0.9047:0.0:0.0953	.	634;634;634	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	L	634	ENSP00000407030:V634L;ENSP00000303540:V634L;ENSP00000364554:V634L;ENSP00000386312:V634L	ENSP00000303540:V634L	V	-	1	0	SCN1A	166608568	0.181000	0.23161	0.796000	0.32109	0.958000	0.62258	1.320000	0.33666	0.593000	0.29745	0.561000	0.74099	GTG		0.537	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		6	68	0	0	0	1	0	6	68					G	166900322	C	G	166900322	3	3	340	1	0	0	0	0	1	0	0	0	13914	565	20	4	4193	4	SCN1A	2	166900322	Missense_Mutation	SNP	C	TCGA-EM-A3SZ-01A-11D-A22Z-08	4	166900322	76299051	5	7263	41	2									
ZNF639	51193	broad.mit.edu	37	chr3	179051912	179051913	+	Frame_Shift_Ins	INS	-	-	A													tttcggagtagacttcacacINSaaatgttaacaggcatgttg							TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr3:179051912_179051913insA	ENST00000326361.3	+	7	1605_1606	c.1160_1161insA	c.(1159-1164)acaaatfs	p.N388fs	ZNF639_ENST00000496856.1_Frame_Shift_Ins_p.N388fs|ZNF639_ENST00000484866.1_Frame_Shift_Ins_p.N388fs	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	388	Interaction with CTNNA2.				negative regulation by host of viral transcription (GO:0043922)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|transcription, DNA-templated (GO:0006351)|viral entry into host cell (GO:0046718)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein self-association (GO:0043621)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AGACTTCACACAAATGTTAACA	0.356																																						ENST00000326361.3																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16						c.(1159-1161)aaafs		zinc finger protein 639																																				SO:0001589	frameshift_variant	51193				initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr3:179051912_179051913insA	BC020500	CCDS3227.1	3q27.1	2010-03-26			ENSG00000121864	ENSG00000121864		"Zinc fingers, C2H2-type"	30950	protein-coding gene	gene with protein product	"zinc finger amplified in esophageal squamous cell carcinomas 1"					14522885	Standard	NM_016331		Approved	ANC-2H01, ZASC1	uc003fjr.1	Q9UID6	OTTHUMG00000157439	ENST00000326361.3:c.1163dupA	3.37:g.179051915_179051915dupA	ENSP00000325634:p.Asn388fs					ZNF639_ENST00000484866.1_Frame_Shift_Ins_p.K387fs|ZNF639_ENST00000496856.1_Frame_Shift_Ins_p.K387fs	p.K387fs	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		7	1605_1606	+	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		387			Interaction with CTNNA2.		A9X3Z9|D3DNR3	Frame_Shift_Ins	INS	ENST00000326361.3	37	c.1160_1161insA	CCDS3227.1																																																																																				0.356	ZNF639-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348855.1	NM_016331		29	107						29	107	---	---	---	---	A	179051913	-	A	179051912	7	5	340	1	0	1	1	0	0	0	0	0	18053	478	17	0	1174	0	ZNF639	3	179051912	Frame_Shift_Ins	INS	-	TCGA-EM-A3SZ-01A-11D-A22Z-08		179051912	18970518	6	7264											
ABLIM2	84448	broad.mit.edu	37	chr4	7985069	7985069	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atgagggagtcatacggataGatctgttgggggaggaaacc	16	5	2	2			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr4:7985069G>C	ENST00000341937.5	-	19	1708	c.1644C>G	c.(1642-1644)atC>atG	p.I548M	ABLIM2_ENST00000361581.5_Missense_Mutation_p.I509M|ABLIM2_ENST00000296372.8_Missense_Mutation_p.I510M|ABLIM2_ENST00000361737.5_Missense_Mutation_p.I468M|ABLIM2_ENST00000514025.1_Missense_Mutation_p.I283M|ABLIM2_ENST00000407564.3_Missense_Mutation_p.I458M|ABLIM2_ENST00000447017.2_Missense_Mutation_p.I582M|ABLIM2_ENST00000546334.1_Missense_Mutation_p.I468M|ABLIM2_ENST00000318888.4_Missense_Mutation_p.I283M|ABLIM2_ENST00000545242.1_Missense_Mutation_p.I508M|ABLIM2_ENST00000505872.1_Missense_Mutation_p.I496M	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	548	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|myofibril (GO:0030016)	zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CATACGGATAGATCTGTTGGG	0.552																																						ENST00000318888.4																			0				NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						c.(847-849)atC>atG		actin binding LIM protein family, member 2							64	65	65					4																	7985069		2056	4196	6252	SO:0001583	missense	84448				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding	g.chr4:7985069G>C	AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995			19195	protein-coding gene	gene with protein product		612544	"actin binding LIM protein 2"				Standard	NM_001130083		Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000341937.5:c.1644C>G	4.37:g.7985069G>C	ENSP00000342813:p.Ile548Met					ABLIM2_ENST00000546334.1_Missense_Mutation_p.I468M|ABLIM2_ENST00000447017.2_Missense_Mutation_p.I582M|ABLIM2_ENST00000505872.1_Missense_Mutation_p.I496M|ABLIM2_ENST00000407564.3_Missense_Mutation_p.I458M|ABLIM2_ENST00000296372.8_Missense_Mutation_p.I510M|ABLIM2_ENST00000341937.5_Missense_Mutation_p.I548M|ABLIM2_ENST00000361737.5_Missense_Mutation_p.I468M|ABLIM2_ENST00000361581.5_Missense_Mutation_p.I509M|ABLIM2_ENST00000514025.1_Missense_Mutation_p.I283M|ABLIM2_ENST00000545242.1_Missense_Mutation_p.I508M	p.I283M			Q6H8Q1	ABLM2_HUMAN			19	1720	-			548					E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	Missense_Mutation	SNP	ENST00000341937.5	37	c.849C>G	CCDS47013.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.501038	0.44455	.	.	ENSG00000163995	ENST00000361737;ENST00000400045;ENST00000296372;ENST00000545242;ENST00000546334;ENST00000318888;ENST00000514025;ENST00000447017;ENST00000341937;ENST00000361581;ENST00000407564;ENST00000505872	T;T;T;T;T;T;T;T;T;T;T	0.52983	1.45;1.71;1.59;1.42;0.64;0.64;1.5;1.6;1.65;1.39;1.27	4.53	2.77	0.32553	Villin headpiece (3);	0.395740	0.27253	N	0.020217	T	0.65709	0.2717	M	0.87381	2.88	0.35637	D	0.810657	P;D;D;P;D;P;D;D	0.69078	0.952;0.993;0.958;0.954;0.997;0.897;0.985;0.996	P;D;P;P;D;P;D;D	0.69307	0.621;0.915;0.682;0.786;0.963;0.8;0.915;0.937	T	0.70912	-0.4743	10	0.72032	D	0.01	.	5.3246	0.15898	0.1792:0.0:0.6548:0.166	.	458;509;468;548;496;283;510;582	Q08E71;Q6H8Q1-2;Q6H8Q1-3;Q6H8Q1;Q19VH0;Q6H8Q1-4;Q6H8Q1-5;E9PF39	.;.;.;ABLM2_HUMAN;.;.;.;.	M	468;581;510;508;468;283;283;582;548;509;458;496	ENSP00000354887:I468M;ENSP00000296372:I510M;ENSP00000441255:I508M;ENSP00000444365:I468M;ENSP00000317020:I283M;ENSP00000423661:I283M;ENSP00000393511:I582M;ENSP00000342813:I548M;ENSP00000355003:I509M;ENSP00000384658:I458M;ENSP00000421283:I496M	ENSP00000296372:I510M	I	-	3	3	ABLIM2	8035969	1.000000	0.71417	0.931000	0.37212	0.579000	0.36224	0.705000	0.25675	0.519000	0.28406	0.591000	0.81541	ATC		0.552	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358862.2	NM_001130083		9	8	0	0	0	1	0	9	8					C	7985069	G	C	7985069	3	2	340	1	0	0	0	0	1	0	0	0	95	932	33	4	199	4	ABLIM2	4	7985069	Missense_Mutation	SNP	G	TCGA-EM-A3SZ-01A-11D-A22Z-08		7985069	183169207	7	7265											
APC	324	broad.mit.edu	37	chr5	112175616	112175616	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagtaaaacacctccaccacCtcctcaaacagctcaaacca	2	17	2	0			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr5:112175616C>A	ENST00000457016.1	+	16	4705	c.4325C>A	c.(4324-4326)cCt>cAt	p.P1442H	APC_ENST00000508376.2_Missense_Mutation_p.P1442H|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.P1442H			P25054	APC_HUMAN	adenomatous polyposis coli	1442	Ser-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)	p.?(1)|p.P1442fs*31(1)|p.P1424fs*19(1)|p.K1192fs*3(1)|p.P1441fs*28(1)|p.S1436fs*22(1)|p.P1441fs*27(1)		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)		CCTCCACCACCTCCTCAAACA	0.473		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"		7	Deletion - Frameshift(6)|Unknown(1)	p.?(1)|p.P1442fs*31(1)|p.P1424fs*19(1)|p.K1192fs*3(1)|p.P1441fs*28(1)|p.S1436fs*22(1)|p.P1441fs*27(1)	large_intestine(5)|soft_tissue(1)|skin(1)	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.(4324-4326)cCt>cAt		adenomatous polyposis coli							114	99	104					5																	112175616		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.chr5:112175616C>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.4325C>A	5.37:g.112175616C>A	ENSP00000413133:p.Pro1442His	TSP Lung(16;0.13)				APC_ENST00000257430.4_Missense_Mutation_p.P1442H|APC_ENST00000508376.2_Missense_Mutation_p.P1442H|CTC-554D6.1_ENST00000520401.1_Intron	p.P1442H			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)	16	4705	+		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)	1442			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.4325C>A	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124120	0.77436	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.90444	-2.67;-2.67;-2.67	5.95	5.95	0.96441	.	0.153913	0.64402	D	0.000013	D	0.94142	0.8121	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.92581	0.6074	9	.	.	.	-11.4277	20.3697	0.98890	0.0:1.0:0.0:0.0	.	1444;1442	Q4LE70;P25054	.;APC_HUMAN	H	1442	ENSP00000413133:P1442H;ENSP00000257430:P1442H;ENSP00000427089:P1442H	.	P	+	2	0	APC	112203515	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.802000	0.55553	2.811000	0.96726	0.655000	0.94253	CCT		0.473	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		3	40	1	0	1	1	1	3	40					A	112175616	C	A	112175616	3	1	340	1	0	0	0	0	1	0	0	0	763	681	24	4	4383	4	APC	5	112175616	Missense_Mutation	SNP	C	TCGA-EM-A3SZ-01A-11D-A22Z-08		112175616	68739644	8	7266											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		11	28	0	0	0	1	0	11	28					T	140453136	A	T	140453136	3	4	340	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A3SZ-01A-11D-A22Z-08		140453136	18685527	9	7267											
OTUD6B	51633	broad.mit.edu	37	chr8	92096277	92096277	+	Frame_Shift_Del	DEL	A	A	-													ttacaaacaccaatagagatAatacaggcagattctcctcc							TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr8:92096277delA	ENST00000285420.4	+	6	921	c.822delA	c.(820-822)atafs	p.I275fs	OTUD6B_ENST00000404789.3_Frame_Shift_Del_p.I144fs	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	245	His-loop. {ECO:0000250}.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.						cysteine-type peptidase activity (GO:0008234)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			CAATAGAGATAATACAGGCAG	0.294																																						ENST00000285420.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(820-822)atfs		OTU domain containing 6B							58	52	54					8																	92096277		2202	4300	6502	SO:0001589	frameshift_variant	51633							g.chr8:92096277delA		CCDS6253.2, CCDS69513.1	8q21.3	2013-01-21			ENSG00000155100	ENSG00000155100		"OTU domain containing"	24281	protein-coding gene	gene with protein product		612021					Standard	NM_016023		Approved	CGI-77, DUBA5	uc003yeu.4	Q8N6M0	OTTHUMG00000150758	ENST00000285420.4:c.822delA	8.37:g.92096277delA	ENSP00000285420:p.Ile275fs					OTUD6B_ENST00000404789.3_Frame_Shift_Del_p.I144fs	p.I275fs	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0187)		6	921	+			245			OTU.		A8K6I1|B4DEY0|Q9NTA4|Q9Y387	Frame_Shift_Del	DEL	ENST00000285420.4	37	c.822delA	CCDS6253.2																																																																																				0.294	OTUD6B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000319968.1	NM_016023		2	4						2	4	---	---	---	---	-	92096277	A	-	92096277	7	5	340	1	0	1	0	1	0	0	0	0	11317	352	13	0	844	0	OTUD6B	8	92096277	Frame_Shift_Del	DEL	A	TCGA-EM-A3SZ-01A-11D-A22Z-08		92096277	54267745	10	7268											
PRUNE2	158471	broad.mit.edu	37	chr9	79325961	79325961	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgagcctggttagaatcaTtgagatctggagggttctct	12	8	3	3	rs192120864		TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr9:79325961T>C	ENST00000376718.3	-	8	1352	c.1229A>G	c.(1228-1230)aAt>aGt	p.N410S	PRUNE2_ENST00000428286.1_Missense_Mutation_p.N51S	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	410					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GTTAGAATCATTGAGATCTGG	0.512													T|||	1	0.000199681	0	0	5008	,	,		21716	0.001		0	False		,,,				2504	0					ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(151-153)aAt>aGt		prune homolog 2 (Drosophila)							47	44	45					9																	79325961		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79325961T>C	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.1229A>G	9.37:g.79325961T>C	ENSP00000365908:p.Asn410Ser					PRUNE2_ENST00000376718.3_Missense_Mutation_p.N410S	p.N51S			Q8WUY3	PRUN2_HUMAN			8	1352	-			410					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.152A>G	CCDS47982.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	1.046	-0.677434	0.03378	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.58060	0.56;0.36	5.64	-3.08	0.05347	.	0.615186	0.15216	N	0.274220	T	0.29652	0.0740	N	0.19112	0.55	0.80722	D	1	B	0.12630	0.006	B	0.15484	0.013	T	0.01814	-1.1268	10	0.33940	T	0.23	-4.0174	6.4314	0.21798	0.1069:0.3246:0.0:0.5685	.	410	Q8WUY3	PRUN2_HUMAN	S	410;51;409	ENSP00000365908:N410S;ENSP00000397425:N51S	ENSP00000365908:N410S	N	-	2	0	PRUNE2	78515781	0.295000	0.24389	0.027000	0.17364	0.132000	0.20833	-0.549000	0.06041	-0.845000	0.04179	-2.279000	0.00272	AAT		0.512	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		3	26	0	0	0	1	0	3	26					C	79325961	T	C	79325961	3	2	340	1	0	0	0	0	1	0	0	0	12641	1493	52	3	8085	3	PRUNE2	9	79325961	Missense_Mutation	SNP	T	TCGA-EM-A3SZ-01A-11D-A22Z-08		79325961	61887470	11	7269											
TLE4	7091	broad.mit.edu	37	chr9	82321667	82321667	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgttcctttgtaggatccAtcttcccctcgagggagccc	10	13	1	0			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr9:82321667A>G	ENST00000376552.2	+	11	1807	c.789A>G	c.(787-789)ccA>ccG	p.P263P	TLE4_ENST00000376520.4_Silent_p.P263P|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000265284.6_Silent_p.P238P|TLE4_ENST00000376544.3_Intron|TLE4_ENST00000376537.4_Silent_p.P263P	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	263	CCN domain.				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						TGTAGGATCCATCTTCCCCTC	0.493																																						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.(787-789)ccA>ccG		transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)							119	117	118					9																	82321667		1938	4123	6061	SO:0001819	synonymous_variant	7091							g.chr9:82321667A>G	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.789A>G	9.37:g.82321667A>G						TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376537.4_Silent_p.P263P|TLE4_ENST00000376544.3_Intron|TLE4_ENST00000376552.2_Silent_p.P263P|TLE4_ENST00000265284.6_Silent_p.P238P	p.P263P			O60756	BCE1_HUMAN			11	1617	+			0					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Silent	SNP	ENST00000376552.2	37	c.789A>G	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	A	9.481	1.098222	0.20552	.	.	ENSG00000106829	ENST00000496114	.	.	.	6.05	-12.1	0.00011	.	.	.	.	.	T	0.28797	0.0714	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40997	-0.9533	4	.	.	.	-11.918	0.6162	0.00770	0.2206:0.2842:0.1831:0.3121	.	.	.	.	V	54	.	.	I	+	1	0	TLE4	81511487	0.000000	0.05858	0.626000	0.29213	0.949000	0.60115	-2.259000	0.01178	-1.766000	0.01302	-1.014000	0.02459	ATC		0.493	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		28	53	0	0	0	1	0	28	53					G	82321667	A	G	82321667	2	3	340	1	0	0	0	0	0	0	0	1	15938	204	8	3		3	TLE4	9	82321667	Silent	SNP	A	TCGA-EM-A3SZ-01A-11D-A22Z-08	2995706	82321667	58891764	12	7270											
MORN5	254956	broad.mit.edu	37	chr9	124936866	124936866	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctataacccagtcacgagGgtagtcaaggactataggaa	10	8	3	0			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr9:124936866G>T	ENST00000373764.3	+	4	461	c.399G>T	c.(397-399)agG>agT	p.R133S	MORN5_ENST00000536616.1_Missense_Mutation_p.R133S|MORN5_ENST00000486801.1_3'UTR	NM_198469.2	NP_940871.2	Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	133										endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						CAGTCACGAGGGTAGTCAAGG	0.468																																						ENST00000536616.1																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						c.(397-399)agG>agT		MORN repeat containing 5							111	102	105					9																	124936866		2203	4300	6503	SO:0001583	missense	254956							g.chr9:124936866G>T	AK128877	CCDS6836.1, CCDS75894.1	9q34.11	2008-06-23	2008-06-23	2008-06-23	ENSG00000185681	ENSG00000185681			17841	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 113", "chromosome 9 open reading frame 18"	C9orf113, C9orf18			Standard	XM_005251878		Approved	FLJ46909	uc004blw.2	Q5VZ52	OTTHUMG00000020599	ENST00000373764.3:c.399G>T	9.37:g.124936866G>T	ENSP00000362869:p.Arg133Ser					MORN5_ENST00000373764.3_Missense_Mutation_p.R133S|MORN5_ENST00000486801.1_3'UTR	p.R133S			Q5VZ52	MORN5_HUMAN			4	437	+			133					B7Z7I5|Q6ZQN1	Missense_Mutation	SNP	ENST00000373764.3	37	c.399G>T	CCDS6836.1	.	.	.	.	.	.	.	.	.	.	G	5.839	0.339058	0.11069	.	.	ENSG00000185681	ENST00000373764;ENST00000536616	T;T	0.23950	1.96;1.88	5.65	1.8	0.24995	.	0.000000	0.85682	D	0.000000	T	0.26304	0.0642	M	0.74881	2.28	0.28947	N	0.890618	B;B	0.33103	0.397;0.102	B;B	0.32533	0.147;0.03	T	0.12889	-1.0530	10	0.41790	T	0.15	-1.1699	8.5595	0.33503	0.3095:0.0:0.6905:0.0	.	133;133	B7Z7I5;Q5VZ52	.;MORN5_HUMAN	S	133	ENSP00000362869:R133S;ENSP00000437483:R133S	ENSP00000362869:R133S	R	+	3	2	MORN5	123976687	0.535000	0.26370	0.017000	0.16124	0.052000	0.14988	0.582000	0.23834	0.342000	0.23796	0.650000	0.86243	AGG		0.468	MORN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053910.2	NM_198469		6	68	1	0	2.7689e-08	1	3.69186e-08	6	68					T	124936866	G	T	124936866	3	4	340	1	0	0	0	0	1	0	0	0	9711	1223	43	4	413	4	MORN5	9	124936866	Missense_Mutation	SNP	G	TCGA-EM-A3SZ-01A-11D-A22Z-08	42615199	124936866	16276565	13	7271											
ZNF37A	7587	broad.mit.edu	37	chr10	38407191	38407191	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcatttaagtcagtccttaCtgtgcatcagaaaacacaca	5	11	3	1			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr10:38407191C>G	ENST00000361085.5	+	7	1457	c.1112C>G	c.(1111-1113)aCt>aGt	p.T371S	ZNF37A_ENST00000351773.3_Missense_Mutation_p.T371S	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	371					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						TCAGTCCTTACTGTGCATCAG	0.408																																						ENST00000351773.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						c.(1111-1113)aCt>aGt		zinc finger protein 37A							77	80	79					10																	38407191		2203	4300	6503	SO:0001583	missense	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38407191C>G	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"Zinc fingers, C2H2-type", "-"	13102	protein-coding gene	gene with protein product			"zinc finger protein 37a (KOX 21)"			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.1112C>G	10.37:g.38407191C>G	ENSP00000354377:p.Thr371Ser					ZNF37A_ENST00000361085.4_Missense_Mutation_p.T371S	p.T371S	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN			8	1942	+			371					B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	ENST00000361085.5	37	c.1112C>G	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.805534	0.31961	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.07216	3.21;3.21	1.78	-0.41	0.12374	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05777	0.0151	N	0.20986	0.625	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.38499	-0.9658	9	0.38643	T	0.18	.	8.7167	0.34416	0.0:0.5528:0.4471:0.0	.	371	P17032	ZN37A_HUMAN	S	371	ENSP00000329141:T371S;ENSP00000354377:T371S	ENSP00000329141:T371S	T	+	2	0	ZNF37A	38447197	0.000000	0.05858	0.992000	0.48379	0.955000	0.61496	0.002000	0.13061	-0.101000	0.12219	0.591000	0.81541	ACT		0.408	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421		4	73	0	0	0	1	0	4	73					G	38407191	C	G	38407191	3	3	340	1	0	0	0	0	1	0	0	0	17869	565	20	4	1126	4	ZNF37A	10	38407191	Missense_Mutation	SNP	C	TCGA-EM-A3SZ-01A-11D-A22Z-08		38407191	97127556	14	7272											
MRGPRX4	117196	broad.mit.edu	37	chr11	18195357	18195357	+	Frame_Shift_Del	DEL	T	T	-													catcccagtcgcgtggctgaTttttttatgtgtggttctct							TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr11:18195357delT	ENST00000314254.3	+	1	974	c.554delT	c.(553-555)attfs	p.I185fs	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GCGTGGCTGATTTTTTTATGT	0.507																																						ENST00000314254.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(553-555)atfs		MAS-related GPR, member X4							180	173	176					11																	18195357		2199	4293	6492	SO:0001589	frameshift_variant	117196					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18195357delT	AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"GPCR / Class A : Orphans"	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.554delT	11.37:g.18195357delT	ENSP00000314042:p.Ile185fs					RP11-113D6.6_ENST00000527671.1_Intron	p.I185fs	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN			1	974	+			185					Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Frame_Shift_Del	DEL	ENST00000314254.3	37	c.554delT	CCDS7831.1																																																																																				0.507	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1	NM_054032		17	131						17	131	---	---	---	---	-	18195357	T	-	18195357	7	5	340	1	0	1	0	1	0	0	0	0	9769	1493	52	0	556	0	MRGPRX4	11	18195357	Frame_Shift_Del	DEL	T	TCGA-EM-A3SZ-01A-11D-A22Z-08		18195357	116811159	15	7273											
TRIM48	79097	broad.mit.edu	37	chr11	55032442	55032442	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccccatctgcatgaactaCttcatagacccggtcaccat	6	15	3	2	rs200709338		TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr11:55032442C>T	ENST00000417545.2	+	2	197	c.111C>T	c.(109-111)taC>taT	p.Y37Y		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	21						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GCATGAACTACTTCATAGACC	0.478																																						ENST00000417545.2																			0				endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(109-111)taC>taT		tripartite motif containing 48							118	121	120					11																	55032442		2193	4264	6457	SO:0001819	synonymous_variant	79097					intracellular	zinc ion binding	g.chr11:55032442C>T	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19021	protein-coding gene	gene with protein product			"tripartite motif-containing 48"				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.111C>T	11.37:g.55032442C>T							p.Y37Y	NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN			2	197	+			21					Q9BUW4	Silent	SNP	ENST00000417545.2	37	c.111C>T	CCDS7947.2																																																																																				0.478	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			9	174	0	0	0	1	0	9	174					T	55032442	C	T	55032442	2	4	340	1	0	0	0	0	0	0	0	1	16520	576	20	2		2	TRIM48	11	55032442	Silent	SNP	C	TCGA-EM-A3SZ-01A-11D-A22Z-08	36837085	55032442	79974074	16	7274											
EP400	57634	broad.mit.edu	37	chr12	132472421	132472421	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggagaggaggtggaaggtgGctgctgcgaagaaggtgggt	22	3	0	2			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr12:132472421G>T	ENST00000333577.4	+	8	2612	c.2503G>T	c.(2503-2505)Gct>Tct	p.A835S	EP400_ENST00000389562.2_Missense_Mutation_p.A798S|EP400_ENST00000330386.6_Missense_Mutation_p.A799S|EP400_ENST00000389561.2_Missense_Mutation_p.A799S|EP400_ENST00000332482.4_Missense_Mutation_p.A762S			Q96L91	EP400_HUMAN	E1A binding protein p400	835	HSA. {ECO:0000255|PROSITE- ProRule:PRU00549}.				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)			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)		GTGGAAGGTGGCTGCTGCGAA	0.612																																						ENST00000333577.4																			0				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.(2503-2505)Gct>Tct		E1A binding protein p400							79	57	64					12																	132472421		2203	4300	6503	SO:0001583	missense	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.chr12:132472421G>T	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.2503G>T	12.37:g.132472421G>T	ENSP00000333602:p.Ala835Ser					EP400_ENST00000389561.2_Missense_Mutation_p.A799S|EP400_ENST00000330386.6_Missense_Mutation_p.A799S|EP400_ENST00000389562.2_Missense_Mutation_p.A798S|EP400_ENST00000332482.4_Missense_Mutation_p.A762S	p.A835S			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	8	2612	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	835			HSA.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.2503G>T		.	.	.	.	.	.	.	.	.	.	G	15.78	2.933489	0.52866	.	.	ENSG00000183495	ENST00000537902;ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000423130;ENST00000541296;ENST00000542457	D;D;D;D;D	0.91521	-2.82;-2.81;-2.82;-2.86;-2.82	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.94551	0.8245	M	0.64997	1.995	0.53688	D	0.999973	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.997;0.997;0.997;0.998;0.997	D	0.93466	0.6815	10	0.39692	T	0.17	.	19.3223	0.94246	0.0:0.0:1.0:0.0	.	799;799;798;835;762	Q96L91-2;Q96L91-4;Q96L91-5;F8WCN8;Q96L91-3	.;.;.;.;.	S	762;835;799;798;762;799;835;799;799	ENSP00000333602:A835S;ENSP00000374212:A799S;ENSP00000374213:A798S;ENSP00000331737:A762S;ENSP00000330620:A799S	ENSP00000330620:A799S	A	+	1	0	EP400	131038374	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	9.721000	0.98766	2.637000	0.89404	0.563000	0.77884	GCT		0.612	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		3	20	1	0	1	1	1	3	20					T	132472421	G	T	132472421	3	4	340	1	0	0	0	0	1	0	0	0	5149	1203	42	4	2414	4	EP400	12	132472421	Missense_Mutation	SNP	G	TCGA-EM-A3SZ-01A-11D-A22Z-08		132472421	1379474	17	7275											
NAA30	122830	broad.mit.edu	37	chr14	57863556	57863556	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcagaggttatatagccatGttagccgtggattccaaata	10	8	0	1			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr14:57863556G>T	ENST00000556492.1	+	3	1012	c.858G>T	c.(856-858)atG>atT	p.M286I	NAA30_ENST00000555166.1_Missense_Mutation_p.M28I|NAA30_ENST00000554703.1_Missense_Mutation_p.M28I	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit	286	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				metabolic process (GO:0008152)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)	peptide alpha-N-acetyltransferase activity (GO:0004596)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						ATATAGCCATGTTAGCCGTGG	0.373																																						ENST00000556492.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						c.(856-858)atG>atT		N(alpha)-acetyltransferase 30, NatC catalytic subunit							175	159	164					14																	57863556		2203	4300	6503	SO:0001583	missense	122830					cytoplasm	peptide alpha-N-acetyltransferase activity	g.chr14:57863556G>T	AK092674	CCDS32088.1	14q22.2	2010-05-07	2010-01-14	2010-01-14		ENSG00000139977	2.3.1.88	"N(alpha)-acetyltransferase subunits"	19844	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 35", "N-acetyltransferase 12", "N-acetyltransferase 12 (GCN5-related, putative)"	C14orf35, NAT12		19660095	Standard	NM_001011713		Approved	FLJ35355, MAK3, Mak3p	uc001xcx.4	Q147X3		ENST00000556492.1:c.858G>T	14.37:g.57863556G>T	ENSP00000452521:p.Met286Ile					NAA30_ENST00000555166.1_Missense_Mutation_p.M28I|NAA30_ENST00000554703.1_Missense_Mutation_p.M28I	p.M286I	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN			3	1012	+			286			N-acetyltransferase.		Q0IIN2	Missense_Mutation	SNP	ENST00000556492.1	37	c.858G>T	CCDS32088.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.297549|5.297549	0.95574|0.95574	.|.	.|.	ENSG00000139977|ENSG00000139977	ENST00000298406|ENST00000555166;ENST00000556492;ENST00000554703;ENST00000395257	.|T;T;T	.|0.22134	.|1.97;1.97;1.97	5.95|5.95	5.95|5.95	0.96441|0.96441	.|GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.42810|0.42810	0.1219|0.1219	L|L	0.45228|0.45228	1.405|1.405	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.81914	.|0.995	T|T	0.12167|0.12167	-1.0558|-1.0558	5|10	.|0.87932	.|D	.|0	-8.5766|-8.5766	20.3931|20.3931	0.98965|0.98965	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|286	.|Q147X3	.|NAA30_HUMAN	F|I	98|28;286;28;249	.|ENSP00000450939:M28I;ENSP00000452521:M286I;ENSP00000451255:M28I	.|ENSP00000298406:M286I	C|M	+|+	2|3	0|0	NAA30|NAA30	56933309|56933309	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.600000|9.600000	0.98282|0.98282	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	TGT|ATG		0.373	NAA30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412925.1	NM_001011713		9	36	1	0	3.09899e-07	1	3.98441e-07	9	36					T	57863556	G	T	57863556	3	4	340	1	0	0	0	0	1	0	0	0	10122	1377	48	4	864	4	NAA30	14	57863556	Missense_Mutation	SNP	G	TCGA-EM-A3SZ-01A-11D-A22Z-08		57863556	49485984	18	7276											
TLN2	83660	broad.mit.edu	37	chr15	63102170	63102170	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgacgaggtgagaaccagagCcttgcgtttcgggacggagt	16	8	0	3			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr15:63102170C>A	ENST00000561311.1	+	51	6940	c.6710C>A	c.(6709-6711)gCc>gAc	p.A2237D	TLN2_ENST00000306829.6_Missense_Mutation_p.A2237D			Q9Y4G6	TLN2_HUMAN	talin 2	2237					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGAACCAGAGCCTTGCGTTTC	0.552																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(6709-6711)gCc>gAc		talin 2							140	104	116					15																	63102170		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63102170C>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.6710C>A	15.37:g.63102170C>A	ENSP00000453508:p.Ala2237Asp					TLN2_ENST00000306829.6_Missense_Mutation_p.A2237D	p.A2237D			Q9Y4G6	TLN2_HUMAN			51	6940	+			2237					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.6710C>A	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045839	0.93685	.	.	ENSG00000171914	ENST00000306829	T	0.70986	-0.53	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.83184	0.5199	M	0.77820	2.39	0.80722	D	1	D	0.71674	0.998	P	0.61328	0.887	T	0.81093	-0.1089	10	0.33940	T	0.23	-19.1241	19.8344	0.96650	0.0:1.0:0.0:0.0	.	2237	Q9Y4G6	TLN2_HUMAN	D	2237	ENSP00000303476:A2237D	ENSP00000303476:A2237D	A	+	2	0	TLN2	60889223	1.000000	0.71417	0.992000	0.48379	0.658000	0.38924	7.776000	0.85560	2.696000	0.92011	0.561000	0.74099	GCC		0.552	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			3	19	1	0	0.0215528	1	0.0242469	3	19					A	63102170	C	A	63102170	3	1	340	1	0	0	0	0	1	0	0	0	15945	739	26	4	6904	4	TLN2	15	63102170	Missense_Mutation	SNP	C	TCGA-EM-A3SZ-01A-11D-A22Z-08		63102170	39429222	19	7277											
CILP	8483	broad.mit.edu	37	chr15	65499273	65499273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggtccgagcctctagccGcaggggacgggcacatacac	14	13	1	0	rs148640463		TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr15:65499273G>A	ENST00000261883.4	-	4	437	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	91					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						GCCTCTAGCCGCAGGGGACGG	0.617													G|||	1	0.000199681	0	0	5008	,	,		17608	0		0	False		,,,				2504	0.001					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.(271-273)Cgg>Tgg		cartilage intermediate layer protein, nucleotide pyrophosphohydrolase		G	TRP/ARG	1,4401	2.1+/-5.4	0,1,2200	39	34	36		271	-6.8	0.0	15	dbSNP_134	36	0,8598		0,0,4299	no	missense	CILP	NM_003613.3	101	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	benign	91/1185	65499273	1,12999	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.chr15:65499273G>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.271C>T	15.37:g.65499273G>A	ENSP00000261883:p.Arg91Trp						p.R91W	NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN			4	437	-			91					B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.271C>T	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.429139	0.25726	2.27E-4	0.0	ENSG00000138615	ENST00000261883	T	0.18174	2.23	5.58	-6.77	0.01727	.	0.676350	0.15665	N	0.250715	T	0.12008	0.0292	L	0.55481	1.735	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.11641	-1.0579	10	0.59425	D	0.04	-21.2792	5.9877	0.19444	0.3501:0.0:0.3961:0.2539	.	91	O75339	CILP1_HUMAN	W	91	ENSP00000261883:R91W	ENSP00000261883:R91W	R	-	1	2	CILP	63286326	0.000000	0.05858	0.037000	0.18230	0.660000	0.38997	-0.438000	0.06905	-1.864000	0.01148	-1.267000	0.01435	CGG		0.617	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		3	22	0	0	0	1	0	3	22					A	65499273	G	A	65499273	3	1	340	1	0	0	0	0	1	0	0	0	3429	1086	38	1	3307	1	CILP	15	65499273	Missense_Mutation	SNP	G	TCGA-EM-A3SZ-01A-11D-A22Z-08	2397103	65499273	37032119	20	7278											
ZNF629	23361	broad.mit.edu	37	chr16	30794482	30794482	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcgtgcgctggtgccgcagCaacgtggcgctcagggtgaa	17	11	1	1			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr16:30794482C>A	ENST00000262525.4	-	3	1374	c.1167G>T	c.(1165-1167)ttG>ttT	p.L389F		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	389					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GGTGCCGCAGCAACGTGGCGC	0.652																																						ENST00000262525.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22						c.(1165-1167)ttG>ttT		zinc finger protein 629							37	39	38					16																	30794482		2197	4300	6497	SO:0001583	missense	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30794482C>A	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"Zinc fingers, C2H2-type"	29008	protein-coding gene	gene with protein product			"zinc finger protein 65"	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.1167G>T	16.37:g.30794482C>A	ENSP00000262525:p.Leu389Phe						p.L389F	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	1374	-			389					Q15938	Missense_Mutation	SNP	ENST00000262525.4	37	c.1167G>T	CCDS45463.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733981	0.48939	.	.	ENSG00000102870	ENST00000262525	T	0.52057	0.68	5.79	4.78	0.61160	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35646	N	0.003071	T	0.62575	0.2439	L	0.50333	1.59	0.36275	D	0.855422	D	0.89917	1.0	D	0.91635	0.999	T	0.67569	-0.5637	10	0.49607	T	0.09	-18.0793	15.2644	0.73649	0.0:0.8591:0.1409:0.0	.	389	Q9UEG4	ZN629_HUMAN	F	389	ENSP00000262525:L389F	ENSP00000262525:L389F	L	-	3	2	ZNF629	30701983	0.001000	0.12720	1.000000	0.80357	0.564000	0.35744	-0.084000	0.11268	2.735000	0.93741	0.561000	0.74099	TTG		0.652	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		3	25	1	0	0.115264	1	0.125743	3	25					A	30794482	C	A	30794482	3	1	340	1	0	0	0	0	1	0	0	0	18050	709	25	4	1446	4	ZNF629	16	30794482	Missense_Mutation	SNP	C	TCGA-EM-A3SZ-01A-11D-A22Z-08		30794482	59560271	21	7279											
CRISPLD2	83716	broad.mit.edu	37	chr16	84882990	84882990	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcggtttctgccctgcaGgtatcgctctccggggttcc	13	13	2	1			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr16:84882990G>A	ENST00000262424.5	+	4	583		c.e4-1		CRISPLD2_ENST00000566431.1_Splice_Site|CRISPLD2_ENST00000567845.1_Splice_Site|CRISPLD2_ENST00000564567.1_Splice_Site	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2						extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|lung development (GO:0030324)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|transport vesicle (GO:0030133)	heparin binding (GO:0008201)			endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						CTGCCCTGCAGGTATCGCTCT	0.642																																						ENST00000262424.5																			0				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						c.e4-1		cysteine-rich secretory protein LCCL domain containing 2							115	102	106					16																	84882990		2199	4300	6499	SO:0001630	splice_region_variant	83716					extracellular region|transport vesicle		g.chr16:84882990G>A	AL136861	CCDS10949.1	16q24.1	2008-02-05	2005-02-16	2005-02-16	ENSG00000103196	ENSG00000103196			25248	protein-coding gene	gene with protein product		612434	"LCCL domain containing cysteine-rich secretory protein 2"	LCRISP2		11230166	Standard	NM_031476		Approved	DKFZP434B044	uc010voh.1	Q9H0B8	OTTHUMG00000137644	ENST00000262424.5:c.360-1G>A	16.37:g.84882990G>A						CRISPLD2_ENST00000567845.1_Splice_Site|CRISPLD2_ENST00000566431.1_Splice_Site|CRISPLD2_ENST00000564567.1_Splice_Site		NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN			4	583	+								D3DUM0|Q6P590|Q6UWH0|Q6UXC6|Q96IB1|Q96K61	Splice_Site	SNP	ENST00000262424.5	37		CCDS10949.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.982462	0.34942	.	.	ENSG00000103196	ENST00000262424	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4241	0.90604	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CRISPLD2	83440491	1.000000	0.71417	1.000000	0.80357	0.056000	0.15407	9.333000	0.96459	2.699000	0.92147	0.643000	0.83706	.		0.642	CRISPLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269086.2	NM_031476	Intron	15	22	0	0	0	1	0	15	22					A	84882990	G	A	84882990	5	1	340	1	0	0	0	0	0	0	1	0	3883	1014	35	2	369	2	CRISPLD2	16	84882990	Splice_Site	SNP	G	TCGA-EM-A3SZ-01A-11D-A22Z-08	54088508	84882990	5471763	22	7280											
ZNF234	10780	broad.mit.edu	37	chr19	44660699	44660699	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcaggagagaagtctcataCatgtgatgagtgtggaaaaa	12	5	2	3			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr19:44660699C>A	ENST00000426739.2	+	6	788	c.530C>A	c.(529-531)aCa>aAa	p.T177K	ZNF234_ENST00000592437.1_Missense_Mutation_p.T177K	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	177					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				AAGTCTCATACATGTGATGAG	0.393																																						ENST00000426739.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23						c.(529-531)aCa>aAa		zinc finger protein 234							131	134	133					19																	44660699		2203	4300	6503	SO:0001583	missense	10780				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44660699C>A	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"Zinc fingers, C2H2-type", "-"	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.530C>A	19.37:g.44660699C>A	ENSP00000400878:p.Thr177Lys					ZNF234_ENST00000592437.1_Missense_Mutation_p.T177K	p.T177K	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN			6	788	+		Prostate(69;0.0435)	177					A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	37	c.530C>A	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.532302	0.27387	.	.	ENSG00000167380	ENST00000426739;ENST00000542402	T	0.16597	2.33	4.19	-2.74	0.05932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07728	0.0194	N	0.01668	-0.77	0.09310	N	1	D	0.65815	0.995	D	0.65987	0.94	T	0.23691	-1.0181	9	0.02654	T	1	.	0.5231	0.00615	0.3544:0.2614:0.1214:0.2629	.	177	Q14588	ZN234_HUMAN	K	177;8	ENSP00000400878:T177K	ENSP00000400878:T177K	T	+	2	0	ZNF226	49352539	0.000000	0.05858	0.000000	0.03702	0.962000	0.63368	-2.770000	0.00780	-0.104000	0.12154	0.586000	0.80456	ACA		0.393	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			16	102	1	0	5.01169e-05	1	6.22141e-05	16	102					A	44660699	C	A	44660699	3	1	340	1	0	0	0	0	1	0	0	0	17784	478	17	4	544	4	ZNF234	19	44660699	Missense_Mutation	SNP	C	TCGA-EM-A3SZ-01A-11D-A22Z-08		44660699	14468284	23	7281											
CCDC9	26093	broad.mit.edu	37	chr19	47768151	47768151	+	Frame_Shift_Del	DEL	G	G	-													ccgccggcacggccgcaactGggggggccccgacttcgagc							TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr19:47768151delG	ENST00000221922.6	+	7	890	c.668delG	c.(667-669)tggfs	p.W223fs		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	223							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		GGCCGCAACTGGGGGGGCCCC	0.721																																						ENST00000221922.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12						c.(667-669)tgfs		coiled-coil domain containing 9							4	7	6					19																	47768151		2057	4027	6084	SO:0001589	frameshift_variant	26093							g.chr19:47768151delG	AL050284	CCDS12698.1	19q13.33	2008-02-05				ENSG00000105321			24560	protein-coding gene	gene with protein product						11230166	Standard	NM_015603		Approved	DKFZP586M1019	uc010xym.2	Q9Y3X0		ENST00000221922.6:c.668delG	19.37:g.47768151delG	ENSP00000221922:p.Trp223fs						p.W223fs	NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)	7	890	+		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)	223						Frame_Shift_Del	DEL	ENST00000221922.6	37	c.668delG	CCDS12698.1																																																																																				0.721	CCDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466917.1	NM_015603		3	4						3	4	---	---	---	---	-	47768151	G	-	47768151	7	5	340	1	0	1	0	1	0	0	0	0	2867	1357	47	0	690	0	CCDC9	19	47768151	Frame_Shift_Del	DEL	G	TCGA-EM-A3SZ-01A-11D-A22Z-08	3107452	47768151	11360832	24	7282											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	9	17	2	0	rs145580328		TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51	56	55					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		4	142	0	0	0	1	0	4	142					G	37028425	A	G	37028425	3	3	340	1	0	0	0	0	1	0	0	0	5571	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-EM-A3SZ-01A-11D-A22Z-08		37028425	118242135	25	7283											
MAGEC1	9947	broad.mit.edu	37	chrX	140994614	140994614	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tacttttgagggttttccccAgtctcctctccagattcctg	7	13	2	2			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chrX:140994614A>T	ENST00000285879.4	+	4	1710	c.1424A>T	c.(1423-1425)cAg>cTg	p.Q475L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	475										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GGTTTTCCCCAGTCTCCTCTC	0.478										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1423-1425)cAg>cTg		melanoma antigen family C, 1							114	125	121					X																	140994614		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140994614A>T	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1424A>T	X.37:g.140994614A>T	ENSP00000285879:p.Gln475Leu	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.Q475L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1710	+	Acute lymphoblastic leukemia(192;6.56e-05)		475					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.1424A>T	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	a	2.681	-0.275423	0.05679	.	.	ENSG00000155495	ENST00000285879	T	0.02631	4.22	.	.	.	.	.	.	.	.	T	0.01222	0.0040	N	0.08118	0	0.80722	D	1	P	0.38110	0.618	B	0.26969	0.075	T	0.62946	-0.6746	8	0.87932	D	0	.	2.6458	0.04984	0.5165:0.0:0.4835:0.0	.	475	O60732	MAGC1_HUMAN	L	475	ENSP00000285879:Q475L	ENSP00000285879:Q475L	Q	+	2	0	MAGEC1	140822280	0.000000	0.05858	0.106000	0.21319	0.107000	0.19398	-2.033000	0.01425	0.126000	0.18424	0.125000	0.15800	CAG		0.478	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		82	167	0	0	0	1	0	82	167					T	140994614	A	T	140994614	3	4	340	1	0	0	0	0	1	0	0	0	9180	188	7	5	1430	5	MAGEC1	23	140994614	Missense_Mutation	SNP	A	TCGA-EM-A3SZ-01A-11D-A22Z-08	103966189	140994614	14275946	26	7284											
ALX3	257	broad.mit.edu	37	chr1	110607406	110607406	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccggggaaagaggaagatGcaggctggccaggcaggggc	19	9	0	2			TCGA-EM-A4FF-01A-11D-A257-08	TCGA-EM-A4FF-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d646e7-56a5-4300-8262-fc3568731137	4189595e-d0f6-47bc-ab41-0ef3359201e1	g.chr1:110607406G>A	ENST00000369792.4	-	2	484	c.397C>T	c.(397-399)Cat>Tat	p.H133Y	RP4-773N10.4_ENST00000554749.1_RNA	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	133					embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|pattern specification process (GO:0007389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGAGGAAGATGCAGGCTGGCC	0.632																																						ENST00000369792.4																			0				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						c.(397-399)Cat>Tat		ALX homeobox 3							68	76	73					1																	110607406		2203	4300	6503	SO:0001583	missense	257					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:110607406G>A	AF008203	CCDS819.1	1p13.3	2014-02-04	2008-11-04		ENSG00000156150	ENSG00000156150		"Homeoboxes / PRD class"	449	protein-coding gene	gene with protein product		606014	"aristaless-like homeobox 3", "frontonasal dysplasia"	FND		15226305, 11807986, 19409524	Standard	NM_006492		Approved		uc001dzb.3	O95076	OTTHUMG00000011650	ENST00000369792.4:c.397C>T	1.37:g.110607406G>A	ENSP00000358807:p.His133Tyr						p.H133Y	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)	2	484	-		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	133					O95075|Q5T8M4	Missense_Mutation	SNP	ENST00000369792.4	37	c.397C>T	CCDS819.1	.	.	.	.	.	.	.	.	.	.	G	9.594	1.126801	0.20959	.	.	ENSG00000156150	ENST00000369792	D	0.95518	-3.73	3.51	2.54	0.30619	Homeodomain-like (1);	0.718005	0.11987	N	0.510254	T	0.80160	0.4572	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.74103	-0.3773	10	0.62326	D	0.03	.	8.1581	0.31183	0.0:0.0:0.5651:0.4348	.	133	O95076	ALX3_HUMAN	Y	133	ENSP00000358807:H133Y	ENSP00000358807:H133Y	H	-	1	0	ALX3	110408929	0.002000	0.14202	0.938000	0.37757	0.870000	0.49936	0.612000	0.24283	0.733000	0.32492	0.462000	0.41574	CAT		0.632	ALX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032232.2	NM_006492		26	51	0	0	0	1	0	26	51					A	110607406	G	A	110607406	3	1	341	1	0	0	0	0	1	0	0	0	557	1319	46	2	646	2	ALX3	1	110607406	Missense_Mutation	SNP	G	TCGA-EM-A4FF-01A-11D-A257-08		110607406	138643215	1	7285											
KCNJ10	3766	broad.mit.edu	37	chr1	160011624	160011624	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acttggaaagtcacattgacCtggttgagccggatgttctc	11	9	2	2			TCGA-EM-A4FF-01A-11D-A257-08	TCGA-EM-A4FF-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d646e7-56a5-4300-8262-fc3568731137	4189595e-d0f6-47bc-ab41-0ef3359201e1	g.chr1:160011624C>G	ENST00000368089.3	-	2	925	c.699G>C	c.(697-699)caG>caC	p.Q233H	KCNJ10_ENST00000509700.1_5'UTR	NM_002241.4	NP_002232.2	P78508	KCJ10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	233					adult walking behavior (GO:0007628)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|membrane hyperpolarization (GO:0060081)|optic nerve development (GO:0021554)|potassium ion homeostasis (GO:0055075)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of resting membrane potential (GO:0060075)|regulation of sensory perception of pain (GO:0051930)|response to blue light (GO:0009637)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		Yohimbine(DB01392)	TCACATTGACCTGGTTGAGCC	0.502																																					GBM(167;1368 2014 14817 36425 43215)	ENST00000368089.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17						c.(697-699)caG>caC		potassium inwardly-rectifying channel, subfamily J, member 10							133	128	130					1																	160011624		2203	4300	6503	SO:0001583	missense	3766					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity	g.chr1:160011624C>G	U52155	CCDS1193.1	1q23.2	2011-07-05			ENSG00000177807	ENSG00000177807		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6256	protein-coding gene	gene with protein product		602208				9367690, 8995301, 16382105	Standard	NM_002241		Approved	Kir4.1, Kir1.2	uc001fuw.2	P78508	OTTHUMG00000024073	ENST00000368089.3:c.699G>C	1.37:g.160011624C>G	ENSP00000357068:p.Gln233His					KCNJ10_ENST00000509700.1_5'UTR	p.Q233H	NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	925	-	all_hematologic(112;0.093)		233					A3KME7|Q5VUT9|Q8N4I7|Q92808	Missense_Mutation	SNP	ENST00000368089.3	37	c.699G>C	CCDS1193.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.650849	0.47362	.	.	ENSG00000177807	ENST00000368089	D	0.95171	-3.63	5.44	1.47	0.22746	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.95532	0.8548	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94521	0.7727	10	0.54805	T	0.06	.	11.6977	0.51553	0.0:0.7154:0.0:0.2846	.	233	P78508	IRK10_HUMAN	H	233	ENSP00000357068:Q233H	ENSP00000357068:Q233H	Q	-	3	2	KCNJ10	158278248	0.933000	0.31639	1.000000	0.80357	0.982000	0.71751	0.391000	0.20784	0.156000	0.19299	-0.797000	0.03246	CAG		0.502	KCNJ10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060629.1	NM_002241		23	75	0	0	0	1	0	23	75					G	160011624	C	G	160011624	3	3	341	1	0	0	0	0	1	0	0	0	8044	680	24	4	444	4	KCNJ10	1	160011624	Missense_Mutation	SNP	C	TCGA-EM-A4FF-01A-11D-A257-08	49404218	160011624	89238997	2	7286											
LIMS1	3987	broad.mit.edu	37	chr2	109292399	109292399	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctcccatgccatgataAaatgggggtccccatctgtg	10	13	1	1			TCGA-EM-A4FF-01A-11D-A257-08	TCGA-EM-A4FF-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d646e7-56a5-4300-8262-fc3568731137	4189595e-d0f6-47bc-ab41-0ef3359201e1	g.chr2:109292399A>G	ENST00000393310.1	+	6	727	c.560A>G	c.(559-561)aAa>aGa	p.K187R	LIMS1_ENST00000338045.3_Missense_Mutation_p.K187R|LIMS1_ENST00000542845.1_Missense_Mutation_p.K249R|LIMS1_ENST00000332345.6_Missense_Mutation_p.K187R|LIMS1_ENST00000409441.1_Missense_Mutation_p.K224R|LIMS1_ENST00000410093.1_Missense_Mutation_p.K191R|AC010095.5_ENST00000411710.1_RNA|LIMS1_ENST00000544547.1_Missense_Mutation_p.K199R	NM_001193488.1	NP_001180417.1	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1	187					cell aging (GO:0007569)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chordate embryonic development (GO:0043009)|establishment or maintenance of cell polarity (GO:0007163)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|protein heterooligomerization (GO:0051291)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						TGCCATGATAAAATGGGGGTC	0.557																																						ENST00000393310.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						c.(559-561)aAa>aGa		LIM and senescent cell antigen-like domains 1							59	53	55					2																	109292399		2203	4300	6503	SO:0001583	missense	3987				cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent	cytosol|focal adhesion|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr2:109292399A>G		CCDS2078.1, CCDS54382.1, CCDS54383.1, CCDS54384.1, CCDS54385.1	2q12.3	2008-05-23			ENSG00000169756	ENSG00000169756			6616	protein-coding gene	gene with protein product		602567				7517666, 10022929	Standard	NM_001193482		Approved	PINCH, PINCH1	uc002tek.4	P48059	OTTHUMG00000130983	ENST00000393310.1:c.560A>G	2.37:g.109292399A>G	ENSP00000376987:p.Lys187Arg					LIMS1_ENST00000544547.1_Missense_Mutation_p.K199R|LIMS1_ENST00000409441.1_Missense_Mutation_p.K224R|LIMS1_ENST00000542845.1_Missense_Mutation_p.K249R|LIMS1_ENST00000410093.1_Missense_Mutation_p.K191R|LIMS1_ENST00000332345.6_Missense_Mutation_p.K187R|LIMS1_ENST00000338045.3_Missense_Mutation_p.K187R	p.K187R	NM_001193488.1	NP_001180417.1	P48059	LIMS1_HUMAN			6	727	+			187					B2RAJ4|B7Z483|B7Z7R3|B7Z907|Q53TE0|Q9BS44	Missense_Mutation	SNP	ENST00000393310.1	37	c.560A>G	CCDS2078.1	.	.	.	.	.	.	.	.	.	.	a	17.57	3.423745	0.62733	.	.	ENSG00000169756	ENST00000544547;ENST00000332345;ENST00000393310;ENST00000410093;ENST00000409441;ENST00000338045;ENST00000542845	D;D;D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28	5.44	5.44	0.79542	Zinc finger, LIM-type (2);	0.000000	0.64402	D	0.000001	D	0.84070	0.5391	L	0.41236	1.265	0.80722	D	1	P;B;B;B	0.40282	0.711;0.055;0.055;0.055	B;B;B;B	0.42214	0.38;0.05;0.05;0.075	T	0.82975	-0.0190	10	0.31617	T	0.26	.	15.4866	0.75573	1.0:0.0:0.0:0.0	.	249;224;187;199	B7Z7R3;B7Z907;P48059;B7Z483	.;.;LIMS1_HUMAN;.	R	199;187;187;191;224;187;249	ENSP00000437912:K199R;ENSP00000331775:K187R;ENSP00000376987:K187R;ENSP00000386926:K191R;ENSP00000387264:K224R;ENSP00000337598:K187R;ENSP00000446121:K249R	ENSP00000331775:K187R	K	+	2	0	LIMS1	108658831	1.000000	0.71417	0.992000	0.48379	0.981000	0.71138	9.335000	0.96500	2.061000	0.61500	0.379000	0.24179	AAA		0.557	LIMS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253596.1	NM_004987		4	47	0	0	0	1	0	4	47					G	109292399	A	G	109292399	3	3	341	1	0	0	0	0	1	0	0	0	8803	14	1	3	578	3	LIMS1	2	109292399	Missense_Mutation	SNP	A	TCGA-EM-A4FF-01A-11D-A257-08		109292399	133906974	3	7287											
ANKZF1	55139	broad.mit.edu	37	chr2	220097799	220097799	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgcttctctgtcatcaAggatcccccagaagaggcag	10	12	3	3			TCGA-EM-A4FF-01A-11D-A257-08	TCGA-EM-A4FF-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d646e7-56a5-4300-8262-fc3568731137	4189595e-d0f6-47bc-ab41-0ef3359201e1	g.chr2:220097799A>G	ENST00000323348.5	+	6	732		c.e6-1		ANKZF1_ENST00000409849.1_Splice_Site|ANKZF1_ENST00000410034.3_Splice_Site	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1							membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTGTCATCAAGGATCCCCCA	0.468																																						ENST00000323348.5																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23						c.e6-1		ankyrin repeat and zinc finger domain containing 1							166	163	164					2																	220097799		1951	4165	6116	SO:0001630	splice_region_variant	55139					intracellular	zinc ion binding	g.chr2:220097799A>G	AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"Zinc fingers, C2H2-type", "Ankyrin repeat domain containing"	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.559-1A>G	2.37:g.220097799A>G						ANKZF1_ENST00000410034.3_Splice_Site|ANKZF1_ENST00000409849.1_Splice_Site		NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	732	+		Renal(207;0.0474)						Q9NVZ4	Splice_Site	SNP	ENST00000323348.5	37		CCDS42821.1	.	.	.	.	.	.	.	.	.	.	A	10.98	1.504040	0.26949	.	.	ENSG00000163516	ENST00000323348;ENST00000410034	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5158	0.50520	0.866:0.0:0.0:0.134	.	.	.	.	.	-1	.	.	.	+	.	.	ANKZF1	219806043	1.000000	0.71417	0.416000	0.26546	0.562000	0.35680	3.587000	0.53957	2.311000	0.77944	0.533000	0.62120	.		0.468	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	NM_018089	Intron	60	117	0	0	0	1	0	60	117					G	220097799	A	G	220097799	5	3	341	1	0	0	0	0	0	0	1	0	693	86	3	3	575	3	ANKZF1	2	220097799	Splice_Site	SNP	A	TCGA-EM-A4FF-01A-11D-A257-08	110805400	220097799	23101574	4	7288											
NSUN3	63899	broad.mit.edu	37	chr3	93802955	93802956	+	Frame_Shift_Del	DEL	AT	AT	-													ctttttctatttctagggagAtactaacatctccatcatgc							TCGA-EM-A4FF-01A-11D-A257-08	TCGA-EM-A4FF-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d646e7-56a5-4300-8262-fc3568731137	4189595e-d0f6-47bc-ab41-0ef3359201e1	g.chr3:93802955_93802956delAT	ENST00000314622.4	+	3	338_339	c.127_128delAT	c.(127-129)atafs	p.I43fs		NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	43							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						TTCTAGGGAGATACTAACATCT	0.332																																						ENST00000314622.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						c.(127-129)afs		NOP2/Sun domain family, member 3																																				SO:0001589	frameshift_variant	63899						methyltransferase activity	g.chr3:93802955_93802956delAT	BC020602	CCDS2927.1	3q11.2	2009-11-23	2009-11-23		ENSG00000178694	ENSG00000178694		"NOP2/Sun domain containing"	26208	protein-coding gene	gene with protein product			"NOL1/NOP2/Sun domain family 3", "NOL1/NOP2/Sun domain family, member 3"			12477932	Standard	NM_022072		Approved	FLJ22609	uc003drl.1	Q9H649	OTTHUMG00000159025	ENST00000314622.4:c.127_128delAT	3.37:g.93802955_93802956delAT	ENSP00000318986:p.Ile43fs						p.I43fs	NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN			3	338_339	+			43					Q6PG41|Q8IXG9|Q9H6M2	Frame_Shift_Del	DEL	ENST00000314622.4	37	c.127_128delAT	CCDS2927.1																																																																																				0.332	NSUN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352934.1	NM_022072		12	52						12	52	---	---	---	---	-	93802956	AT	-	93802955	7	5	341	1	0	1	0	1	0	0	0	0	10679	333	12	0	137	0	NSUN3	3	93802955	Frame_Shift_Del	DEL	AT	TCGA-EM-A4FF-01A-11D-A257-08		93802955	104219475	5	7289											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A4FF-01A-11D-A257-08	TCGA-EM-A4FF-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d646e7-56a5-4300-8262-fc3568731137	4189595e-d0f6-47bc-ab41-0ef3359201e1	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		21	60	0	0	0	1	0	21	60					T	140453136	A	T	140453136	3	4	341	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A4FF-01A-11D-A257-08		140453136	18685527	6	7290											
VCP	7415	broad.mit.edu	37	chr9	35061662	35061662	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtagcatcaggaattccaAtatctacctccctgtcaaag	6	12	3	0			TCGA-EM-A4FF-01A-11D-A257-08	TCGA-EM-A4FF-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d646e7-56a5-4300-8262-fc3568731137	4189595e-d0f6-47bc-ab41-0ef3359201e1	g.chr9:35061662A>G	ENST00000358901.6	-	10	2001	c.1106T>C	c.(1105-1107)aTt>aCt	p.I369T		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	369					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGGAATTCCAATATCTACCTC	0.483																																						ENST00000358901.6																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(1105-1107)aTt>aCt		valosin containing protein							249	219	229					9																	35061662		2203	4300	6503	SO:0001583	missense	7415				activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	g.chr9:35061662A>G	AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"ATPases / AAA-type"	12666	protein-coding gene	gene with protein product		601023	"valosin-containing protein"			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.1106T>C	9.37:g.35061662A>G	ENSP00000351777:p.Ile369Thr						p.I369T	NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		10	2001	-			369					B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	ENST00000358901.6	37	c.1106T>C	CCDS6573.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.195522	0.78902	.	.	ENSG00000165280	ENST00000358901	D	0.95447	-3.71	5.93	5.93	0.95920	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.98267	0.9426	M	0.92077	3.27	0.80722	D	1	D	0.71674	0.998	D	0.91635	0.999	D	0.99372	1.0920	10	0.87932	D	0	-9.4213	16.3943	0.83563	1.0:0.0:0.0:0.0	.	369	P55072	TERA_HUMAN	T	369	ENSP00000351777:I369T	ENSP00000351777:I369T	I	-	2	0	VCP	35051662	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.297000	0.96120	2.281000	0.76405	0.533000	0.62120	ATT		0.483	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126		17	128	0	0	0	1	0	17	128					G	35061662	A	G	35061662	3	3	341	1	0	0	0	0	1	0	0	0	17137	101	4	3	1346	3	VCP	9	35061662	Missense_Mutation	SNP	A	TCGA-EM-A4FF-01A-11D-A257-08		35061662	106151769	7	7291											
C12orf12	196477	broad.mit.edu	37	chr12	91347581	91347582	+	In_Frame_Ins	INS	-	-	TCT													cttcctcctcatcttcgaccINStcttcctcctcatcttcgac					rs374196591|rs558083520|rs376547014	byFrequency	TCGA-EM-A4FF-01A-11D-A257-08	TCGA-EM-A4FF-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d646e7-56a5-4300-8262-fc3568731137	4189595e-d0f6-47bc-ab41-0ef3359201e1	g.chr12:91347581_91347582insTCT	ENST00000358859.2	-	1	1371_1372	c.938_939insAGA	c.(937-939)gag>gaAGAg	p.313_313E>EE	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	313	Glu-rich.																catcttcgacctcttcctcctc	0.535																																						ENST00000358859.2																			0											c.(937-939)ggt>gAGAgt		coiled-coil glutamate-rich protein 1				20,4244		0,20,2112						1.8	0.0		dbSNP_107	204	107,8147		2,103,4022	no	coding	C12orf12	NM_152638.2		2,123,6134	A1A1,A1R,RR		1.2963,0.469,1.0145				127,12391				SO:0001652	inframe_insertion	196477							g.chr12:91347581_91347582insTCT	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 12"	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.936_938dupAGA	12.37:g.91347582_91347584dupTCT	ENSP00000351727:p.Glu313dup					CCER1_ENST00000548187.1_Intron	p.313_313G>ES	NM_152638.2	NP_689851.1					1	1371_1372	-								Q8TC47	In_Frame_Ins	INS	ENST00000358859.2	37	c.938_939insAGA	CCDS9036.1																																																																																				0.535	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		29	67						29	67	---	---	---	---	TCT	91347582	-	TCT	91347581	7	5	341	1	0	1	1	0	0	0	0	0	1676	680	24	0	285	0	C12orf12	12	91347581	In_Frame_Ins	INS	-	TCGA-EM-A4FF-01A-11D-A257-08		91347581	42504314	8	7292											
RNF157	114804	broad.mit.edu	37	chr17	74154479	74154479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaatgtcaattacctctcCgagatgctgaaccgacggtc	10	11	2	2			TCGA-EM-A4FF-01A-11D-A257-08	TCGA-EM-A4FF-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d646e7-56a5-4300-8262-fc3568731137	4189595e-d0f6-47bc-ab41-0ef3359201e1	g.chr17:74154479C>T	ENST00000269391.6	-	13	1540	c.1408G>A	c.(1408-1410)Gga>Aga	p.G470R	RNF157_ENST00000319945.6_Missense_Mutation_p.G470R	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	470	Ser-rich.						zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			ATTACCTCTCCGAGATGCTGA	0.532																																					GBM(186;507 2120 27388 27773 52994)	ENST00000269391.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25						c.(1408-1410)Gga>Aga		ring finger protein 157							129	113	119					17																	74154479		2203	4300	6503	SO:0001583	missense	114804						zinc ion binding	g.chr17:74154479C>T	AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"RING-type (C3HC4) zinc fingers"	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.1408G>A	17.37:g.74154479C>T	ENSP00000269391:p.Gly470Arg					RNF157_ENST00000319945.6_Missense_Mutation_p.G470R	p.G470R	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		13	1540	-			470			Ser-rich.		Q8NB72|Q96N56	Missense_Mutation	SNP	ENST00000269391.6	37	c.1408G>A	CCDS32740.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.397227	0.25205	.	.	ENSG00000141576	ENST00000269391;ENST00000319945	T;T	0.21932	1.98;1.98	5.7	-0.731	0.11151	.	0.970819	0.08522	N	0.933309	T	0.11836	0.0288	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.39981	-0.9587	10	0.16896	T	0.51	-13.6572	6.4821	0.22069	0.0:0.552:0.1272:0.3208	.	470;470	Q96PX1-2;Q96PX1	.;RN157_HUMAN	R	470	ENSP00000269391:G470R;ENSP00000321837:G470R	ENSP00000269391:G470R	G	-	1	0	RNF157	71666074	0.000000	0.05858	0.001000	0.08648	0.324000	0.28378	0.154000	0.16343	-0.319000	0.08652	-0.140000	0.14226	GGA		0.532	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	XM_290732		5	103	0	0	0	1	0	5	103					T	74154479	C	T	74154479	3	4	341	1	0	0	0	0	1	0	0	0	13454	661	23	1	659	1	RNF157	17	74154479	Missense_Mutation	SNP	C	TCGA-EM-A4FF-01A-11D-A257-08		74154479	7040731	9	7293											
ACTG1	71	broad.mit.edu	37	chr17	79478060	79478060	+	Frame_Shift_Del	DEL	G	G	-													cagcaccgtgttggcgtacaGgtctttgcggatgtccacgt					rs143205514	byFrequency	TCGA-EM-A4FF-01A-11D-A257-08	TCGA-EM-A4FF-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d646e7-56a5-4300-8262-fc3568731137	4189595e-d0f6-47bc-ab41-0ef3359201e1	g.chr17:79478060delG	ENST00000575842.1	-	4	1303	c.877delC	c.(877-879)ctgfs	p.L293fs	ACTG1_ENST00000575087.1_Frame_Shift_Del_p.L293fs|ACTG1_ENST00000331925.2_Frame_Shift_Del_p.L293fs|AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000573283.1_Frame_Shift_Del_p.L293fs			P63261	ACTG_HUMAN	actin, gamma 1	293					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			TTGGCGTACAGGTCTTTGCGG	0.592																																						ENST00000575842.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29						c.(877-879)tgfs		actin, gamma 1							92	86	88					17																	79478060		2203	4300	6503	SO:0001589	frameshift_variant	71				adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding	g.chr17:79478060delG		CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"deafness, autosomal dominant 20; deafness, autosomal dominant 26"	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.877delC	17.37:g.79478060delG	ENSP00000458162:p.Leu293fs					ACTG1_ENST00000331925.2_Frame_Shift_Del_p.L293fs|AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000575087.1_Frame_Shift_Del_p.L293fs|ACTG1_ENST00000573283.1_Frame_Shift_Del_p.L293fs	p.L293fs			P63261	ACTG_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)		4	1303	-	all_neural(118;0.0878)|Melanoma(429;0.242)		293					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Frame_Shift_Del	DEL	ENST00000575842.1	37	c.877delC	CCDS11782.1																																																																																				0.592	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439935.2	NM_001614		7	99						7	99	---	---	---	---	-	79478060	G	-	79478060	7	5	341	1	0	1	0	1	0	0	0	0	196	991	35	0	258	0	ACTG1	17	79478060	Frame_Shift_Del	DEL	G	TCGA-EM-A4FF-01A-11D-A257-08	5323581	79478060	1717150	10	7294											
CUL4B	8450	broad.mit.edu	37	chrX	119660702	119660702	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agattctattctcttcttaaGatcagcaggctgtaagagaa	8	7	4	3			TCGA-EM-A4FF-01A-11D-A257-08	TCGA-EM-A4FF-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d646e7-56a5-4300-8262-fc3568731137	4189595e-d0f6-47bc-ab41-0ef3359201e1	g.chrX:119660702G>T	ENST00000404115.3	-	22	3057	c.2656C>A	c.(2656-2658)Ctt>Att	p.L886I	CUL4B_ENST00000371322.5_Missense_Mutation_p.L868I|CUL4B_ENST00000336592.6_Missense_Mutation_p.L873I	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	886					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTCTTCTTAAGATCAGCAGGC	0.358																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2602-2604)Ctt>Att		cullin 4B							158	136	143					X																	119660702		2203	4300	6503	SO:0001583	missense	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119660702G>T	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.2656C>A	X.37:g.119660702G>T	ENSP00000384109:p.Leu886Ile					CUL4B_ENST00000336592.6_Missense_Mutation_p.L873I|CUL4B_ENST00000404115.3_Missense_Mutation_p.L886I	p.L868I	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			20	2663	-			886					B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	ENST00000404115.3	37	c.2602C>A	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.121725	0.37436	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	T;T;T	0.55234	0.54;0.54;0.53	5.54	3.78	0.43462	Cullin protein, neddylation domain (2);Winged helix-turn-helix transcription repressor DNA-binding (1);Cullin, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.44244	0.1284	N	0.02721	-0.515	0.80722	D	1	B;P;P	0.44344	0.002;0.833;0.8	B;D;P	0.64144	0.048;0.922;0.873	T	0.39187	-0.9626	9	.	.	.	-7.879	10.6397	0.45586	0.1585:0.0:0.8415:0.0	.	690;886;868	Q13620-3;Q13620;Q13620-1	.;CUL4B_HUMAN;.	I	868;873;886	ENSP00000360373:L868I;ENSP00000338919:L873I;ENSP00000384109:L886I	.	L	-	1	0	CUL4B	119544730	1.000000	0.71417	0.983000	0.44433	0.985000	0.73830	3.594000	0.54008	0.520000	0.28426	-0.215000	0.12644	CTT		0.358	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		4	61	1	0	0.00909568	1	0.0104432	4	61					T	119660702	G	T	119660702	3	4	341	1	0	0	0	0	1	0	0	0	4058	942	33	4	89	4	CUL4B	23	119660702	Missense_Mutation	SNP	G	TCGA-EM-A4FF-01A-11D-A257-08		119660702	35609858	11	7295											
PLXNA3	55558	broad.mit.edu	37	chrX	153698460	153698460	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatcgcgagggggaccgtGgcagcaagatggtctccgag	16	11	1	1			TCGA-EM-A4FF-01A-11D-A257-08	TCGA-EM-A4FF-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d646e7-56a5-4300-8262-fc3568731137	4189595e-d0f6-47bc-ab41-0ef3359201e1	g.chrX:153698460G>A	ENST00000369682.3	+	29	5111	c.4936G>A	c.(4936-4938)Ggc>Agc	p.G1646S	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1646					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGGGACCGTGGCAGCAAGAT	0.627																																						ENST00000369682.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(4936-4938)Ggc>Agc		plexin A3							68	57	61					X																	153698460		2203	4299	6502	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153698460G>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.4936G>A	X.37:g.153698460G>A	ENSP00000358696:p.Gly1646Ser					PLXNA3_ENST00000493546.1_3'UTR	p.G1646S	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			29	5111	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1646					Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.4936G>A	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	34	5.385425	0.95967	.	.	ENSG00000130827	ENST00000369682	T	0.10860	2.83	5.02	5.02	0.67125	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.36026	0.0952	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.18650	-1.0330	10	0.52906	T	0.07	.	16.1856	0.81948	0.0:0.0:1.0:0.0	.	1646	P51805	PLXA3_HUMAN	S	1646	ENSP00000358696:G1646S	ENSP00000358696:G1646S	G	+	1	0	PLXNA3	153351654	1.000000	0.71417	0.993000	0.49108	0.977000	0.68977	9.860000	0.99555	2.072000	0.62099	0.529000	0.55759	GGC		0.627	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		7	67	0	0	0	1	0	7	67					A	153698460	G	A	153698460	3	1	341	1	0	0	0	0	1	0	0	0	12121	1348	47	2	5046	2	PLXNA3	23	153698460	Missense_Mutation	SNP	G	TCGA-EM-A4FF-01A-11D-A257-08	34037758	153698460	1572100	12	7296											
KIAA0494	9813	broad.mit.edu	37	chr1	47144234	47144234	+	Missense_Mutation	SNP	G	G	T													ttctggcatagcagaacctaGggaggtccagatttcctggt							TCGA-EM-A4FH-01A-11D-A257-08	TCGA-EM-A4FH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ad41f60-e79a-4db3-9c26-8e74cf80c34c	c93a2e43-26fb-461a-a9ab-60b52d591e61	g.chr1:47144234G>T	ENST00000371933.3	-	11	2363	c.1387C>A	c.(1387-1389)Cta>Ata	p.L463I	EFCAB14_ENST00000544071.1_Intron|EFCAB14-AS1_ENST00000442839.1_RNA|EFCAB14-AS1_ENST00000418985.1_RNA	NM_014774.2	NP_055589.1	O75071	EFC14_HUMAN	EF-hand calcium binding domain 14	463	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)										GCAGAACCTAGGGAGGTCCAG	0.453																																						ENST00000371933.3																			0											c.(1387-1389)Cta>Ata		EF-hand calcium binding domain 14							100	99	99					1																	47144234		2203	4300	6503	SO:0001583	missense	9813							g.chr1:47144234G>T	AB007963	CCDS30706.1	1p33	2013-01-10	2012-11-29	2012-11-29	ENSG00000159658	ENSG00000159658		"EF-hand domain containing"	29051	protein-coding gene	gene with protein product			"KIAA0494"	KIAA0494		9455484	Standard	NM_014774		Approved		uc001cqk.4	O75071	OTTHUMG00000007992	ENST00000371933.3:c.1387C>A	1.37:g.47144234G>T	ENSP00000361001:p.Leu463Ile					EFCAB14_ENST00000544071.1_Intron|EFCAB14-AS1_ENST00000442839.1_RNA|EFCAB14-AS1_ENST00000418985.1_RNA	p.L463I	NM_014774.2	NP_055589.1					11	2363	-								D3DQ23|Q5SXB8	Missense_Mutation	SNP	ENST00000371933.3	37	c.1387C>A	CCDS30706.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.283485	0.59867	.	.	ENSG00000159658	ENST00000371933	T	0.09630	2.96	5.14	0.91	0.19337	EF-hand-like domain (1);	0.106420	0.46758	D	0.000275	T	0.22044	0.0531	L	0.59436	1.845	0.32425	N	0.548889	D;P	0.71674	0.998;0.932	D;P	0.83275	0.996;0.546	T	0.12915	-1.0529	10	0.56958	D	0.05	-0.7985	5.5152	0.16902	0.5191:0.1482:0.3327:0.0	.	255;463	B7Z3D1;O75071	.;K0494_HUMAN	I	463	ENSP00000361001:L463I	ENSP00000361001:L463I	L	-	1	2	KIAA0494	46916821	0.996000	0.38824	0.659000	0.29680	0.975000	0.68041	0.406000	0.21032	-0.002000	0.14469	0.591000	0.81541	CTA		0.453	EFCAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021931.1	NM_014774		17	42	1	0	3.51602e-12	1	3.97463e-12	17	42					T	47144234	G	T	47144234	3	4	342	1	0	0	0	0	1	0	0	0	8179	991	35	4	104	4	KIAA0494	1	47144234	Missense_Mutation	SNP	G	TCGA-EM-A4FH-01A-11D-A257-08		47144234	202106387	1	7297	42	2									
KIAA0494	9813	broad.mit.edu	37	chr1	47144235	47144235	+	Silent	SNP	G	G	A													tctggcatagcagaacctagGgaggtccagatttcctggta							TCGA-EM-A4FH-01A-11D-A257-08	TCGA-EM-A4FH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ad41f60-e79a-4db3-9c26-8e74cf80c34c	c93a2e43-26fb-461a-a9ab-60b52d591e61	g.chr1:47144235G>A	ENST00000371933.3	-	11	2362	c.1386C>T	c.(1384-1386)tcC>tcT	p.S462S	EFCAB14_ENST00000544071.1_Intron|EFCAB14-AS1_ENST00000442839.1_RNA|EFCAB14-AS1_ENST00000418985.1_RNA	NM_014774.2	NP_055589.1	O75071	EFC14_HUMAN	EF-hand calcium binding domain 14	462	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)										CAGAACCTAGGGAGGTCCAGA	0.453																																						ENST00000371933.3																			0											c.(1384-1386)tcC>tcT		EF-hand calcium binding domain 14							100	99	99					1																	47144235		2203	4300	6503	SO:0001819	synonymous_variant	9813							g.chr1:47144235G>A	AB007963	CCDS30706.1	1p33	2013-01-10	2012-11-29	2012-11-29	ENSG00000159658	ENSG00000159658		"EF-hand domain containing"	29051	protein-coding gene	gene with protein product			"KIAA0494"	KIAA0494		9455484	Standard	NM_014774		Approved		uc001cqk.4	O75071	OTTHUMG00000007992	ENST00000371933.3:c.1386C>T	1.37:g.47144235G>A						EFCAB14_ENST00000544071.1_Intron|EFCAB14-AS1_ENST00000442839.1_RNA|EFCAB14-AS1_ENST00000418985.1_RNA	p.S462S	NM_014774.2	NP_055589.1					11	2362	-								D3DQ23|Q5SXB8	Silent	SNP	ENST00000371933.3	37	c.1386C>T	CCDS30706.1																																																																																				0.453	EFCAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021931.1	NM_014774		17	42	0	0	0	1	0	17	42					A	47144235	G	A	47144235	2	1	342	1	0	0	0	0	0	0	0	1	8179	1219	43	2		2	KIAA0494	1	47144235	Silent	SNP	G	TCGA-EM-A4FH-01A-11D-A257-08	1	47144235	202106386	2	7298	42	2									
CNST	163882	broad.mit.edu	37	chr1	246810626	246810626	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagccacgttagcgctccacAcccagtcctccgagacagca	8	17	0	1			TCGA-EM-A4FH-01A-11D-A257-08	TCGA-EM-A4FH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ad41f60-e79a-4db3-9c26-8e74cf80c34c	c93a2e43-26fb-461a-a9ab-60b52d591e61	g.chr1:246810626A>T	ENST00000366513.4	+	9	1392	c.1123A>T	c.(1123-1125)Acc>Tcc	p.T375S	CNST_ENST00000366512.3_Missense_Mutation_p.T375S|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	375					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						AGCGCTCCACACCCAGTCCTC	0.587											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000366513.4																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						c.(1123-1125)Acc>Tcc		consortin, connexin sorting protein							87	91	89					1																	246810626		2203	4300	6503	SO:0001583	missense	163882				positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding	g.chr1:246810626A>T	AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	26486	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 64"	613439	"chromosome 1 open reading frame 71"	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.1123A>T	1.37:g.246810626A>T	ENSP00000355470:p.Thr375Ser		OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2468	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.T375S	p.T375S	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN			9	1392	+			375					Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Missense_Mutation	SNP	ENST00000366513.4	37	c.1123A>T	CCDS1628.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.780145	0.49891	.	.	ENSG00000162852	ENST00000366513;ENST00000366512	T;T	0.26660	1.87;1.72	5.5	-1.96	0.07525	.	0.316496	0.29876	N	0.010965	T	0.27384	0.0672	M	0.66939	2.045	0.80722	D	1	P;P	0.47841	0.767;0.901	B;P	0.45276	0.359;0.475	T	0.19418	-1.0306	10	0.48119	T	0.1	-8.6879	10.9091	0.47097	0.7769:0.0:0.2231:0.0	.	375;375	Q6PJW8;Q6PJW8-2	CNST_HUMAN;.	S	375	ENSP00000355470:T375S;ENSP00000355469:T375S	ENSP00000355469:T375S	T	+	1	0	CNST	244877249	1.000000	0.71417	0.995000	0.50966	0.268000	0.26511	0.532000	0.23067	-0.133000	0.11537	0.383000	0.25322	ACC		0.587	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1	NM_152609		50	55	0	0	0	1	0	50	55					T	246810626	A	T	246810626	3	4	342	1	0	0	0	0	1	0	0	0	3634	159	6	5	1153	5	CNST	1	246810626	Missense_Mutation	SNP	A	TCGA-EM-A4FH-01A-11D-A257-08	199666391	246810626	2439995	3	7299											
PAX8	7849	broad.mit.edu	37	chr2	114002079	114002079	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagccggtctcggatctccCaggcaaacatggtagggttc	14	11	2	0			TCGA-EM-A4FH-01A-11D-A257-08	TCGA-EM-A4FH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ad41f60-e79a-4db3-9c26-8e74cf80c34c	c93a2e43-26fb-461a-a9ab-60b52d591e61	g.chr2:114002079C>A	ENST00000429538.3	-	4	508	c.314G>T	c.(313-315)tGg>tTg	p.W105L	AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000445745.1_RNA|PAX8_ENST00000263334.5_Missense_Mutation_p.W105L|AC016683.6_ENST00000422956.2_RNA|PAX8_ENST00000263335.7_Missense_Mutation_p.W105L|AC016683.6_ENST00000451179.1_RNA|PAX8_ENST00000348715.5_Missense_Mutation_p.W105L|AC016683.6_ENST00000553869.2_RNA|PAX8_ENST00000397647.3_Missense_Mutation_p.W105L|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000436293.2_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	105	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				anatomical structure morphogenesis (GO:0009653)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular response to gonadotropin stimulus (GO:0071371)|central nervous system development (GO:0007417)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesonephros development (GO:0001823)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric nephron tubule formation (GO:0072289)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|otic vesicle development (GO:0071599)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|regulation of apoptotic process (GO:0042981)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of thyroid-stimulating hormone secretion (GO:2000612)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone signaling pathway (GO:0038194)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid-stimulating hormone receptor activity (GO:0004996)|transcription regulatory region DNA binding (GO:0044212)		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						TCGGATCTCCCAGGCAAACAT	0.582			T	PPARG	follicular thyroid		Thyroid dysgenesis																														Ovarian(188;7 2067 9084 29802 29892)	ENST00000429538.3				Dom	yes		2	2q12-q14	7849	T	paired box gene 8	yes	Thyroid dysgenesis	E	PPARG		follicular thyroid	PAX8/PPARG(117)	0				breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						c.(313-315)tGg>tTg		paired box 8							174	193	187					2																	114002079		2200	4299	6499	SO:0001583	missense	7849				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity	g.chr2:114002079C>A	X69699	CCDS42735.1, CCDS42736.1, CCDS46398.1, CCDS46399.1	2q13	2011-06-20	2007-07-12		ENSG00000125618	ENSG00000125618		"Paired boxes", "Homeoboxes / PRD class"	8622	protein-coding gene	gene with protein product		167415	"paired box gene 8"			8431641, 7981748	Standard	NM_003466		Approved		uc010yxt.2	Q06710	OTTHUMG00000128529	ENST00000429538.3:c.314G>T	2.37:g.114002079C>A	ENSP00000395498:p.Trp105Leu					PAX8_ENST00000397647.3_Missense_Mutation_p.W105L|PAX8_ENST00000348715.5_Missense_Mutation_p.W105L|PAX8_ENST00000263334.5_Missense_Mutation_p.W105L|PAX8_ENST00000263335.7_Missense_Mutation_p.W105L|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000422956.1_RNA|AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000445745.1_RNA	p.W105L	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN			4	508	-			105			Paired.		Q09155|Q16337|Q16338|Q16339|Q4ZG35|Q96J49	Missense_Mutation	SNP	ENST00000429538.3	37	c.314G>T	CCDS46398.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.940629	0.92526	.	.	ENSG00000125618	ENST00000263335;ENST00000397647;ENST00000348715;ENST00000429538;ENST00000263334	D;D;D;D;D	0.99677	-6.37;-6.37;-6.37;-6.37;-6.37	5.32	5.32	0.75619	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	H	0.97365	3.99	0.80722	D	1	D;D;D;D;D	0.89917	0.977;1.0;0.999;1.0;1.0	D;D;D;D;D	0.97110	0.923;0.999;0.994;0.996;1.0	D	0.96694	0.9513	10	0.87932	D	0	.	16.4863	0.84184	0.0:1.0:0.0:0.0	.	105;105;105;105;105	Q06710-2;Q06710-3;Q06710;Q06710-5;Q06710-4	.;.;PAX8_HUMAN;.;.	L	105	ENSP00000263335:W105L;ENSP00000380768:W105L;ENSP00000314750:W105L;ENSP00000395498:W105L;ENSP00000263334:W105L	ENSP00000263334:W105L	W	-	2	0	PAX8	113718549	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.502000	0.84385	0.655000	0.94253	TGG		0.582	PAX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250353.5			8	252	1	0	0.000274275	1	0.000285246	8	252					A	114002079	C	A	114002079	3	1	342	1	0	0	0	0	1	0	0	0	11485	595	21	4	949	4	PAX8	2	114002079	Missense_Mutation	SNP	C	TCGA-EM-A4FH-01A-11D-A257-08		114002079	129197294	4	7300											
PPP1R7	5510	broad.mit.edu	37	chr2	242089953	242089953	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcaacagtcgcaggagAtgatggagggtgagcggccc	18	9	0	3	rs554905687		TCGA-EM-A4FH-01A-11D-A257-08	TCGA-EM-A4FH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ad41f60-e79a-4db3-9c26-8e74cf80c34c	c93a2e43-26fb-461a-a9ab-60b52d591e61	g.chr2:242089953A>G	ENST00000234038.6	+	1	517	c.43A>G	c.(43-45)Atg>Gtg	p.M15V	PPP1R7_ENST00000406106.3_Missense_Mutation_p.M15V|PASK_ENST00000405260.1_5'Flank|PASK_ENST00000403638.3_5'Flank|PPP1R7_ENST00000404405.3_Missense_Mutation_p.M15V|PPP1R7_ENST00000401987.1_Missense_Mutation_p.M15V|PASK_ENST00000358649.4_5'Flank|PPP1R7_ENST00000272983.8_Missense_Mutation_p.M15V|PASK_ENST00000539818.1_5'Flank|PASK_ENST00000234040.4_5'Flank|PPP1R7_ENST00000407025.1_Missense_Mutation_p.M15V|PPP1R7_ENST00000402734.1_Intron	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	15					positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	enzyme regulator activity (GO:0030234)|protein phosphatase type 1 regulator activity (GO:0008599)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		GTCGCAGGAGATGATGGAGGG	0.697													A|||	1	0.000199681	0	0	5008	,	,		11776	0		0	False		,,,				2504	0.001				NSCLC(62;446 1299 5417 11238 27640)	ENST00000234038.6																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23						c.(43-45)Atg>Gtg		protein phosphatase 1, regulatory subunit 7							15	19	18					2																	242089953		2185	4283	6468	SO:0001583	missense	5510					cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity	g.chr2:242089953A>G	AF067136	CCDS2546.1, CCDS63190.1, CCDS63192.1, CCDS63193.1, CCDS63194.1	2q37.3	2012-04-17	2011-10-04		ENSG00000115685	ENSG00000115685		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9295	protein-coding gene	gene with protein product		602877	"protein phosphatase 1, regulatory (inhibitor) subunit 7"			7498485, 7670491, 10231361	Standard	NM_001282413		Approved	sds22	uc002wat.1	Q15435	OTTHUMG00000133390	ENST00000234038.6:c.43A>G	2.37:g.242089953A>G	ENSP00000234038:p.Met15Val					PPP1R7_ENST00000404405.3_Missense_Mutation_p.M15V|PPP1R7_ENST00000402734.1_Intron|PPP1R7_ENST00000401987.1_Missense_Mutation_p.M15V|PPP1R7_ENST00000272983.8_Missense_Mutation_p.M15V|PPP1R7_ENST00000407025.1_Missense_Mutation_p.M15V|PPP1R7_ENST00000406106.3_Missense_Mutation_p.M15V	p.M15V	NM_002712.1	NP_002703.1	Q15435	PP1R7_HUMAN		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)	1	517	+		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	15					B4DFD4|B5MCY6|Q9UQE5|Q9UQE6|Q9Y6K4	Missense_Mutation	SNP	ENST00000234038.6	37	c.43A>G	CCDS2546.1	.	.	.	.	.	.	.	.	.	.	A	16.10	3.026008	0.54683	.	.	ENSG00000115685	ENST00000407025;ENST00000272983;ENST00000234038;ENST00000404405;ENST00000439916;ENST00000406106;ENST00000401987	T;T;T;T;T;T;T	0.46063	0.88;1.02;0.88;1.02;1.28;1.19;1.1	4.51	4.51	0.55191	.	0.253028	0.34700	N	0.003743	T	0.39937	0.1097	N	0.08118	0	0.35590	D	0.807017	B;P;P;P	0.43578	0.452;0.713;0.811;0.713	P;P;P;P	0.57846	0.455;0.678;0.828;0.678	T	0.56673	-0.7940	10	0.54805	T	0.06	-29.2562	12.4082	0.55451	1.0:0.0:0.0:0.0	.	15;15;15;15	Q15435-2;Q15435;Q15435-3;B5MBZ8	.;PP1R7_HUMAN;.;.	V	15	ENSP00000385657:M15V;ENSP00000272983:M15V;ENSP00000234038:M15V;ENSP00000385498:M15V;ENSP00000409719:M15V;ENSP00000385022:M15V;ENSP00000385466:M15V	ENSP00000234038:M15V	M	+	1	0	PPP1R7	241738626	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.301000	0.65727	1.674000	0.50907	0.402000	0.26972	ATG		0.697	PPP1R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257244.4	NM_002712		3	25	0	0	0	1	0	3	25					G	242089953	A	G	242089953	3	3	342	1	0	0	0	0	1	0	0	0	12376	333	12	3	45	3	PPP1R7	2	242089953	Missense_Mutation	SNP	A	TCGA-EM-A4FH-01A-11D-A257-08	128087874	242089953	1109420	5	7301											
CXCL3	2921	broad.mit.edu	37	chr4	74904084	74904084	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgaggtgaattccctgCagtgtctgcaagcactggca	11	10	2	2			TCGA-EM-A4FH-01A-11D-A257-08	TCGA-EM-A4FH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ad41f60-e79a-4db3-9c26-8e74cf80c34c	c93a2e43-26fb-461a-a9ab-60b52d591e61	g.chr4:74904084C>T	ENST00000296026.4	-	2	224	c.147G>A	c.(145-147)ctG>ctA	p.L49L	CXCL3_ENST00000511669.1_5'UTR	NM_002090.2	NP_002081.2	P19876	CXCL3_HUMAN	chemokine (C-X-C motif) ligand 3	49					immune response (GO:0006955)|inflammatory response (GO:0006954)|neutrophil chemotaxis (GO:0030593)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			central_nervous_system(1)|endometrium(1)	2	Breast(15;0.00612)		all cancers(17;0.00273)|Lung(101;0.196)			GAATTCCCTGCAGTGTCTGCA	0.612																																						ENST00000296026.4																			0				central_nervous_system(1)|endometrium(1)	2						c.(145-147)ctG>ctA		chemokine (C-X-C motif) ligand 3							91	97	95					4																	74904084		2203	4300	6503	SO:0001819	synonymous_variant	2921				immune response|inflammatory response|neutrophil chemotaxis	extracellular space	chemokine activity	g.chr4:74904084C>T	M36821	CCDS34007.1	4q21	2013-02-25	2002-08-22	2002-08-23		ENSG00000163734		"Endogenous ligands"	4604	protein-coding gene	gene with protein product		139111	"GRO3 oncogene"	GRO3		2217207	Standard	NM_002090		Approved	SCYB3, GROg, MIP-2b, CINC-2b	uc003hhl.3	P19876		ENST00000296026.4:c.147G>A	4.37:g.74904084C>T						CXCL3_ENST00000511669.1_5'UTR	p.L49L	NM_002090.2	NP_002081.2	P19876	CXCL3_HUMAN	all cancers(17;0.00273)|Lung(101;0.196)		2	224	-	Breast(15;0.00612)		49					Q4W5H9	Silent	SNP	ENST00000296026.4	37	c.147G>A	CCDS34007.1																																																																																				0.612	CXCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362721.1			10	119	0	0	0	1	0	10	119					T	74904084	C	T	74904084	2	4	342	1	0	0	0	0	0	0	0	1	4086	697	25	2		2	CXCL3	4	74904084	Silent	SNP	C	TCGA-EM-A4FH-01A-11D-A257-08		74904084	116250192	6	7302											
GLIS3	169792	broad.mit.edu	37	chr9	4118110	4118110	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtaagggggtggggggccTgggggcggcggcagaggagg	27	5	0	1			TCGA-EM-A4FH-01A-11D-A257-08	TCGA-EM-A4FH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ad41f60-e79a-4db3-9c26-8e74cf80c34c	c93a2e43-26fb-461a-a9ab-60b52d591e61	g.chr9:4118110T>G	ENST00000324333.10	-	3	1096	c.903A>C	c.(901-903)ccA>ccC	p.P301P	GLIS3_ENST00000381971.3_Silent_p.P456P	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	301	Pro-rich.		P -> Q (in dbSNP:rs6415788). {ECO:0000269|PubMed:15489334}.		negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|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 core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		gtggggggcctgggggcggcg	0.731																																						ENST00000324333.10																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(901-903)ccA>ccC		GLIS family zinc finger 3							8	11	10					9																	4118110		1835	3769	5604	SO:0001819	synonymous_variant	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:4118110T>G	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"Zinc fingers, C2H2-type"	28510	protein-coding gene	gene with protein product		610192	"zinc finger protein 515"	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.903A>C	9.37:g.4118110T>G						GLIS3_ENST00000381971.3_Silent_p.P456P	p.P301P	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	3	1096	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	301		P -> Q (in dbSNP:rs6415788).	Pro-rich.		B1AL19|Q1PHK5	Silent	SNP	ENST00000324333.10	37	c.903A>C	CCDS6451.1																																																																																				0.731	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		6	15	0	0	0	1	0	6	15					G	4118110	T	G	4118110	2	3	342	1	0	0	0	0	0	0	0	1	6447	1567	55	5		5	GLIS3	9	4118110	Silent	SNP	T	TCGA-EM-A4FH-01A-11D-A257-08		4118110	137095321	7	7303											
LTBP3	4054	broad.mit.edu	37	chr11	65318671	65318671	+	Frame_Shift_Del	DEL	G	G	-													gcaggaaccagcgcatggtcGggggcgagggacgggagatc							TCGA-EM-A4FH-01A-11D-A257-08	TCGA-EM-A4FH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ad41f60-e79a-4db3-9c26-8e74cf80c34c	c93a2e43-26fb-461a-a9ab-60b52d591e61	g.chr11:65318671delG	ENST00000301873.5	-	11	1914	c.1646delC	c.(1645-1647)ccgfs	p.P549fs	LTBP3_ENST00000532932.1_5'Flank|LTBP3_ENST00000536982.1_Frame_Shift_Del_p.P175fs|LTBP3_ENST00000322147.4_Frame_Shift_Del_p.P549fs	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	549					bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GCGCATGGTCGGGGGCGAGGG	0.647																																						ENST00000301873.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						c.(1645-1647)cgfs		latent transforming growth factor beta binding protein 3							31	20	23					11																	65318671		2146	4199	6345	SO:0001589	frameshift_variant	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65318671delG	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"Latent transforming growth factor, beta binding proteins"	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.1646delC	11.37:g.65318671delG	ENSP00000301873:p.Pro549fs					LTBP3_ENST00000536982.1_Frame_Shift_Del_p.P175fs|LTBP3_ENST00000322147.4_Frame_Shift_Del_p.P549fs	p.P549fs	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN			11	1914	-			549					O15107|Q96HB9|Q9H7K2|Q9UFN4	Frame_Shift_Del	DEL	ENST00000301873.5	37	c.1646delC	CCDS44647.1																																																																																				0.647	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		2	4						2	4	---	---	---	---	-	65318671	G	-	65318671	7	5	342	1	0	1	0	1	0	0	0	0	9075	1116	39	0	2337	0	LTBP3	11	65318671	Frame_Shift_Del	DEL	G	TCGA-EM-A4FH-01A-11D-A257-08		65318671	69687845	8	7304											
FOLR2	2350	broad.mit.edu	37	chr11	71932697	71932697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaccccaacgaggaagtggCgaggttctatgctgcagcca	12	12	1	0	rs140546240	byFrequency	TCGA-EM-A4FH-01A-11D-A257-08	TCGA-EM-A4FH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ad41f60-e79a-4db3-9c26-8e74cf80c34c	c93a2e43-26fb-461a-a9ab-60b52d591e61	g.chr11:71932697C>T	ENST00000298223.6	+	5	846	c.659C>T	c.(658-660)gCg>gTg	p.A220V	FOLR2_ENST00000454954.2_Missense_Mutation_p.A179V|FOLR2_ENST00000449475.2_Missense_Mutation_p.A216V	NM_000803.4|NM_001113534.1|NM_001113535.1|NM_001113536.1	NP_000794.3|NP_001107006.1|NP_001107007.1|NP_001107008.1	P14207	FOLR2_HUMAN	folate receptor 2 (fetal)	220					folic acid transport (GO:0015884)	anchored component of external side of plasma membrane (GO:0031362)|extracellular region (GO:0005576)|membrane (GO:0016020)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)			breast(3)|large_intestine(3)|ovary(1)|skin(1)	8					Folic Acid(DB00158)	GAGGAAGTGGCGAGGTTCTAT	0.577													C|||	3	0.000599042	0	0.0014	5008	,	,		20317	0		0.002	False		,,,				2504	0					ENST00000449475.2																			0				breast(3)|large_intestine(3)|ovary(1)|skin(1)	8						c.(646-648)gCg>gTg		folate receptor 2 (fetal)	Folic Acid(DB00158)	C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4400		0,0,2200	94	92	93		659,659,659,659	2.7	0.6	11	dbSNP_134	93	2,8584	2.2+/-6.3	0,2,4291	yes	missense,missense,missense,missense	FOLR2	NM_000803.4,NM_001113534.1,NM_001113535.1,NM_001113536.1	64,64,64,64	0,2,6491	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign,benign	220/256,220/256,220/256,220/256	71932697	2,12984	2200	4293	6493	SO:0001583	missense	2350				folic acid transport	anchored to membrane|extracellular region|membrane fraction|plasma membrane	folic acid binding|receptor activity	g.chr11:71932697C>T	AK222539	CCDS8212.1	11q13.3-q14.1	2010-04-08			ENSG00000165457	ENSG00000165457			3793	protein-coding gene	gene with protein product		136425				1133088, 7698003	Standard	NM_000803		Approved		uc009ytf.3	P14207	OTTHUMG00000150394	ENST00000298223.6:c.659C>T	11.37:g.71932697C>T	ENSP00000298223:p.Ala220Val					FOLR2_ENST00000454954.2_Missense_Mutation_p.A179V|FOLR2_ENST00000298223.6_Missense_Mutation_p.A220V	p.A216V			P14207	FOLR2_HUMAN			5	945	+			220					Q05CA5|Q6GTE8	Missense_Mutation	SNP	ENST00000298223.6	37	c.647C>T	CCDS8212.1	2|2	9.157509157509158E-4|9.157509157509158E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	2|2	0.002638522427440633|0.002638522427440633	c|c	14.45|14.45	2.540069|2.540069	0.45176|0.45176	0.0|0.0	2.33E-4|2.33E-4	ENSG00000165457|ENSG00000165457	ENST00000449475;ENST00000298223;ENST00000454954|ENST00000413873	D;T;D|.	0.83837|.	-1.51;-1.25;-1.77|.	4.58|4.58	2.69|2.69	0.31865|0.31865	.|.	0.137686|.	0.47852|.	N|.	0.000201|.	T|.	0.55784|.	0.1942|.	M|M	0.76002|0.76002	2.32|2.32	0.48236|0.48236	D|D	0.999616|0.999616	P|.	0.50528|.	0.936|.	P|.	0.44946|.	0.465|.	T|.	0.52426|.	-0.8577|.	10|.	0.59425|0.02654	D|T	0.04|1	.|.	8.6922|8.6922	0.34273|0.34273	0.0:0.8097:0.0:0.1903|0.0:0.8097:0.0:0.1903	.|.	220|.	P14207|.	FOLR2_HUMAN|.	V|X	216;220;179|234	ENSP00000405638:A216V;ENSP00000298223:A220V;ENSP00000414094:A179V|.	ENSP00000298223:A220V|ENSP00000412980:R234X	A|R	+|+	2|1	0|2	FOLR2|FOLR2	71610345|71610345	0.994000|0.994000	0.37717|0.37717	0.571000|0.571000	0.28486|0.28486	0.584000|0.584000	0.36387|0.36387	3.173000|3.173000	0.50839|0.50839	0.545000|0.545000	0.28902|0.28902	0.462000|0.462000	0.41574|0.41574	GCG|CGA		0.577	FOLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317923.2	NM_000803		29	41	0	0	0	1	0	29	41					T	71932697	C	T	71932697	3	4	342	1	0	0	0	0	1	0	0	0	5982	768	27	1	673	1	FOLR2	11	71932697	Missense_Mutation	SNP	C	TCGA-EM-A4FH-01A-11D-A257-08	6614026	71932697	63073819	9	7305											
RPS2	6187	broad.mit.edu	37	chr16	2013180	2013180	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgcgctggccggcacgggtCtgcttctgcactggcataat	14	12	2	0			TCGA-EM-A4FH-01A-11D-A257-08	TCGA-EM-A4FH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ad41f60-e79a-4db3-9c26-8e74cf80c34c	c93a2e43-26fb-461a-a9ab-60b52d591e61	g.chr16:2013180C>A	ENST00000343262.4	-	4	401	c.345G>T	c.(343-345)caG>caT	p.Q115H	RPS2_ENST00000526522.1_Missense_Mutation_p.Q115H|SNORA10_ENST00000384084.1_RNA|SNHG9_ENST00000459373.1_lincRNA|SNORA64_ENST00000384674.1_RNA|RPS2_ENST00000530225.1_Missense_Mutation_p.Q115H|RPS2_ENST00000529806.1_Missense_Mutation_p.Q85H	NM_002952.3	NP_002943.2	P15880	RS2_HUMAN	ribosomal protein S2	115	S5 DRBM. {ECO:0000255|PROSITE- ProRule:PRU00268}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of transferase activity (GO:0051347)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						CGGCACGGGTCTGCTTCTGCA	0.542																																						ENST00000529806.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						c.(253-255)caG>caT		ribosomal protein S2							9	12	11					16																	2013180		2192	4289	6481	SO:0001583	missense	6187				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome	g.chr16:2013180C>A	AB007147	CCDS10452.1	16p13.3	2011-04-05			ENSG00000140988	ENSG00000140988		"S ribosomal proteins"	10404	protein-coding gene	gene with protein product		603624				9582194	Standard	NM_002952		Approved	LLREP3, S2	uc002cno.2	P15880	OTTHUMG00000128708	ENST00000343262.4:c.345G>T	16.37:g.2013180C>A	ENSP00000341885:p.Gln115His					RPS2_ENST00000526522.1_Missense_Mutation_p.Q115H|RPS2_ENST00000343262.4_Missense_Mutation_p.Q115H|RPS2_ENST00000530225.1_Missense_Mutation_p.Q115H	p.Q85H			P15880	RS2_HUMAN			2	441	-			115					B2R5G0|D3DU82|Q3MIB1	Missense_Mutation	SNP	ENST00000343262.4	37	c.255G>T	CCDS10452.1	.	.	.	.	.	.	.	.	.	.	c	12.48	1.951739	0.34471	.	.	ENSG00000140988	ENST00000526522;ENST00000530225;ENST00000343262;ENST00000529806;ENST00000527302	.	.	.	3.91	1.87	0.25490	Ribosomal protein S5, N-terminal (2);Double-stranded RNA-binding-like (1);	0.000000	0.64402	U	0.000002	D	0.84138	0.5406	H	0.95574	3.69	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.95	D	0.85289	0.1066	9	0.66056	D	0.02	.	9.2417	0.37500	0.0:0.8166:0.0:0.1834	.	115;115	P15880;E9PQD7	RS2_HUMAN;.	H	115;115;115;85;115	.	ENSP00000341885:Q115H	Q	-	3	2	RPS2	1953181	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	2.928000	0.48908	0.884000	0.36064	0.454000	0.30748	CAG		0.542	RPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250613.2	NM_002952		6	6	1	0	3.59834e-05	1	3.8982e-05	6	6					A	2013180	C	A	2013180	3	1	342	1	0	0	0	0	1	0	0	0	13631	912	32	4	552	4	RPS2	16	2013180	Missense_Mutation	SNP	C	TCGA-EM-A4FH-01A-11D-A257-08		2013180	88341573	10	7306											
CSF2RB	1439	broad.mit.edu	37	chr22	37333749	37333750	+	Frame_Shift_Ins	INS	-	-	G													agtacctgtgtctgcctgctINSggggggcaggtgcaactggt							TCGA-EM-A4FH-01A-11D-A257-08	TCGA-EM-A4FH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ad41f60-e79a-4db3-9c26-8e74cf80c34c	c93a2e43-26fb-461a-a9ab-60b52d591e61	g.chr22:37333749_37333750insG	ENST00000403662.3	+	14	2121_2122	c.1899_1900insG	c.(1900-1902)gggfs	p.G634fs	CSF2RB_ENST00000262825.5_Frame_Shift_Ins_p.G640fs|CSF2RB_ENST00000536485.1_Frame_Shift_Ins_p.G581fs|CSF2RB_ENST00000406230.1_Frame_Shift_Ins_p.G640fs			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	634					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GTCTGCCTGCTGGGGGGCAGGT	0.688																																						ENST00000262825.5																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42						c.(1915-1920)gcggggfs		colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)																																			SO:0001589	frameshift_variant	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37333749_37333750insG	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"CD molecules", "Fibronectin type III domain containing"	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.1905dupG	22.37:g.37333755_37333755dupG	ENSP00000384053:p.Gly634fs					CSF2RB_ENST00000536485.1_Frame_Shift_Ins_p.AG580fs|CSF2RB_ENST00000406230.1_Frame_Shift_Ins_p.AG639fs|CSF2RB_ENST00000403662.3_Frame_Shift_Ins_p.AG633fs	p.AG639fs	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN			14	2134_2135	+			633					Q5JZI1|Q6ICE0	Frame_Shift_Ins	INS	ENST00000403662.3	37	c.1917_1918insG	CCDS13936.1																																																																																				0.688	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		2	4						2	4	---	---	---	---	G	37333750	-	G	37333749	7	5	342	1	0	1	1	0	0	0	0	0	3935	1567	55	0	1949	0	CSF2RB	22	37333749	Frame_Shift_Ins	INS	-	TCGA-EM-A4FH-01A-11D-A257-08		37333749	13970817	11	7307											
RBM10	8241	broad.mit.edu	37	chrX	47039364	47039364	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacgcggtgctgtcctcctcCaacgtgcgcgtcataaagga	11	13	1	0			TCGA-EM-A4FH-01A-11D-A257-08	TCGA-EM-A4FH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ad41f60-e79a-4db3-9c26-8e74cf80c34c	c93a2e43-26fb-461a-a9ab-60b52d591e61	g.chrX:47039364C>A	ENST00000377604.3	+	10	1729	c.987C>A	c.(985-987)tcC>tcA	p.S329S	RBM10_ENST00000329236.7_Silent_p.S252S|RBM10_ENST00000345781.6_Silent_p.S252S|RBM10_ENST00000478410.1_3'UTR	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	329	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						TGTCCTCCTCCAACGTGCGCG	0.622																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						c.(985-987)tcC>tcA		RNA binding motif protein 10							50	36	41					X																	47039364		2203	4300	6503	SO:0001819	synonymous_variant	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47039364C>A	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.987C>A	X.37:g.47039364C>A						RBM10_ENST00000329236.7_Silent_p.S252S|RBM10_ENST00000345781.6_Silent_p.S252S|RBM10_ENST00000468791.1_Intron	p.S329S	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN			10	1729	+			329			RRM 2.		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Silent	SNP	ENST00000377604.3	37	c.987C>A	CCDS14274.1																																																																																				0.622	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		3	21	1	0	0.004672	1	0.004672	3	21					A	47039364	C	A	47039364	2	1	342	1	0	0	0	0	0	0	0	1	13111	581	21	4		4	RBM10	23	47039364	Silent	SNP	C	TCGA-EM-A4FH-01A-11D-A257-08		47039364	108231196	12	7308											
PKN2	5586	broad.mit.edu	37	chr1	89273120	89273120	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtattcaagaacttgaggAcagaaggtaaagaatatata	10	3	1	4			TCGA-EM-A4FK-01A-11D-A257-08	TCGA-EM-A4FK-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04e58e29-933d-4488-91a8-06a5ee8f408d	db575be4-4c41-4cf6-8883-b31b1377db2c	g.chr1:89273120A>G	ENST00000370521.3	+	13	2287	c.1928A>G	c.(1927-1929)gAc>gGc	p.D643G	PKN2_ENST00000370505.3_Missense_Mutation_p.D486G|PKN2_ENST00000544045.1_Missense_Mutation_p.D317G|PKN2_ENST00000370513.5_Missense_Mutation_p.D595G	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	643					apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		GAACTTGAGGACAGAAGGTAA	0.333																																						ENST00000370521.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33						c.(1927-1929)gAc>gGc		protein kinase N2							101	96	97					1																	89273120		1828	4079	5907	SO:0001583	missense	5586				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	g.chr1:89273120A>G	U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"cardiolipin-activated protein kinase Pak2"	602549	"protein kinase C-like 2"	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.1928A>G	1.37:g.89273120A>G	ENSP00000359552:p.Asp643Gly					PKN2_ENST00000370513.5_Missense_Mutation_p.D595G|PKN2_ENST00000544045.1_Missense_Mutation_p.D317G|PKN2_ENST00000370505.3_Missense_Mutation_p.D486G	p.D643G	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0301)	13	2287	+		Lung NSC(277;0.123)	643					B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	ENST00000370521.3	37	c.1928A>G	CCDS714.1	.	.	.	.	.	.	.	.	.	.	A	4.173	0.030685	0.08101	.	.	ENSG00000065243	ENST00000370521;ENST00000370505;ENST00000370513;ENST00000544045	T;T;T;T	0.69435	-0.39;-0.39;-0.4;-0.39	5.97	5.97	0.96955	Protein kinase-like domain (1);	0.141093	0.31323	U	0.007847	T	0.44829	0.1312	L	0.44542	1.39	0.46725	D	0.99917	B;B;B	0.24258	0.0;0.1;0.1	B;B;B	0.18561	0.002;0.022;0.022	T	0.43163	-0.9408	10	0.22706	T	0.39	.	16.4534	0.84003	1.0:0.0:0.0:0.0	.	627;595;643	B4DTP5;E7ESL7;Q16513	.;.;PKN2_HUMAN	G	643;486;595;317	ENSP00000359552:D643G;ENSP00000359536:D486G;ENSP00000359544:D595G;ENSP00000439643:D317G	ENSP00000359536:D486G	D	+	2	0	PKN2	89045708	0.999000	0.42202	0.990000	0.47175	0.228000	0.25075	3.579000	0.53900	2.285000	0.76669	0.477000	0.44152	GAC		0.333	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3	NM_006256		5	89	0	0	0	1	0	5	89					G	89273120	A	G	89273120	3	3	343	1	0	0	0	0	1	0	0	0	11980	275	10	3	1978	3	PKN2	1	89273120	Missense_Mutation	SNP	A	TCGA-EM-A4FK-01A-11D-A257-08		89273120	159977501	1	7309											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290	byFrequency	TCGA-EM-A4FK-01A-11D-A257-08	TCGA-EM-A4FK-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04e58e29-933d-4488-91a8-06a5ee8f408d	db575be4-4c41-4cf6-8883-b31b1377db2c	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		neuroblastoma RAS viral (v-ras) oncogene homolog							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		66	107	0	0	0	1	0	66	107					C	115256529	T	C	115256529	3	2	343	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-EM-A4FK-01A-11D-A257-08	25983409	115256529	133994092	2	7310											
HMCN1	83872	broad.mit.edu	37	chr1	185834992	185834992	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggacaaaaaacaagttaaTgaggtcagtttaataaaggg	10	4	1	1			TCGA-EM-A4FK-01A-11D-A257-08	TCGA-EM-A4FK-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04e58e29-933d-4488-91a8-06a5ee8f408d	db575be4-4c41-4cf6-8883-b31b1377db2c	g.chr1:185834992T>C	ENST00000271588.4	+	4	847	c.618T>C	c.(616-618)aaT>aaC	p.N206N	HMCN1_ENST00000367492.2_Silent_p.N206N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	206	VWFA.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AACAAGTTAATGAGGTCAGTT	0.353																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(616-618)aaT>aaC		hemicentin 1							74	76	75					1																	185834992		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185834992T>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.618T>C	1.37:g.185834992T>C						HMCN1_ENST00000367492.2_Silent_p.N206N	p.N206N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			4	847	+			206			VWFA.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.618T>C	CCDS30956.1																																																																																				0.353	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		10	19	0	0	0	1	0	10	19					C	185834992	T	C	185834992	2	2	343	1	0	0	0	0	0	0	0	1	7220	1461	51	3		3	HMCN1	1	185834992	Silent	SNP	T	TCGA-EM-A4FK-01A-11D-A257-08	70578463	185834992	63415629	3	7311											
PAPSS1	9061	broad.mit.edu	37	chr4	108641276	108641280	+	Splice_Site	DEL	CCAGT	CCAGT	-													cgccttcgtccccagcttacCcagttctgcgcgttattgct							TCGA-EM-A4FK-01A-11D-A257-08	TCGA-EM-A4FK-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04e58e29-933d-4488-91a8-06a5ee8f408d	db575be4-4c41-4cf6-8883-b31b1377db2c	g.chr4:108641276_108641280delCCAGT	ENST00000265174.4	-	1	328_332	c.56_60delACTGG	c.(55-60)aactgg>a	p.NW19fs	PAPSS1_ENST00000511304.1_5'UTR	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	19					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		CCCAGCTTACCCAGTTCTGCGCGTT	0.673																																						ENST00000265174.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16						c.e1+1		3'-phosphoadenosine 5'-phosphosulfate synthase 1																																				SO:0001630	splice_region_variant	9061				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity	g.chr4:108641276_108641280delCCAGT	Y10387	CCDS3676.1	4q24	2012-07-13			ENSG00000138801	ENSG00000138801	2.7.7.4, 2.7.1.25		8603	protein-coding gene	gene with protein product		603262				9576487, 9771708	Standard	NM_005443		Approved	ATPSK1, PAPSS	uc003hyk.3	O43252	OTTHUMG00000131210	ENST00000265174.4:c.60+1ACTGG>-	4.37:g.108641276_108641280delCCAGT						PAPSS1_ENST00000511304.1_5'UTR	p.NW19_splice	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)	1	328_332	-		Hepatocellular(203;0.217)	19					O43841|O75332|Q96FB1|Q96TF4|Q9P1P9|Q9UE98	Splice_Site	DEL	ENST00000265174.4	37	c.60_splice	CCDS3676.1																																																																																				0.673	PAPSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253946.2		Frame_Shift_Del	12	36						12	36	---	---	---	---	-	108641280	CCAGT	-	108641276	8	5	343	1	0	1	0	1	0	0	1	0	11434	637	22	0	1862	0	PAPSS1	4	108641276	Splice_Site	DEL	CCAGT	TCGA-EM-A4FK-01A-11D-A257-08		108641276	82513000	4	7312											
SH3RF2	153769	broad.mit.edu	37	chr5	145439568	145439568	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcccctcctccccctcagcCgtggtggtggagatggggtc	13	15	1	1	rs142262740	byFrequency	TCGA-EM-A4FK-01A-11D-A257-08	TCGA-EM-A4FK-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04e58e29-933d-4488-91a8-06a5ee8f408d	db575be4-4c41-4cf6-8883-b31b1377db2c	g.chr5:145439568C>T	ENST00000511217.1	+	8	1747	c.1695C>T	c.(1693-1695)gcC>gcT	p.A565A	SH3RF2_ENST00000359120.4_Silent_p.A565A|SH3RF2_ENST00000511705.1_3'UTR			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	565					negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCCTCAGCCGTGGTGGTGG	0.672													C|||	2	0.000399361	0	0	5008	,	,		15485	0.001		0	False		,,,				2504	0.001					ENST00000511217.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22						c.(1693-1695)gcC>gcT		SH3 domain containing ring finger 2							62	58	59					5																	145439568		2203	4300	6503	SO:0001819	synonymous_variant	153769						ligase activity|protein phosphatase 1 binding|zinc ion binding	g.chr5:145439568C>T	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	26299	protein-coding gene	gene with protein product	"heart protein phosphatase 1-binding protein", "POSH-eliminating RING protein"	613377	"protein phosphatase 1, regulatory subunit 39"	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.1695C>T	5.37:g.145439568C>T						SH3RF2_ENST00000359120.4_Silent_p.A565A|SH3RF2_ENST00000511705.1_3'UTR	p.A565A			Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		8	1747	+			565					A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Silent	SNP	ENST00000511217.1	37	c.1695C>T	CCDS4280.1																																																																																				0.672	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550		4	70	0	0	0	1	0	4	70					T	145439568	C	T	145439568	2	4	343	1	0	0	0	0	0	0	0	1	14259	639	23	1		1	SH3RF2	5	145439568	Silent	SNP	C	TCGA-EM-A4FK-01A-11D-A257-08		145439568	35475692	5	7313											
TNXB	7148	broad.mit.edu	37	chr6	32015643	32015643	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttggctgccaccggcaccaCctggagccgaccatccttat	10	16	0	0			TCGA-EM-A4FK-01A-11D-A257-08	TCGA-EM-A4FK-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04e58e29-933d-4488-91a8-06a5ee8f408d	db575be4-4c41-4cf6-8883-b31b1377db2c	g.chr6:32015643C>T	ENST00000375244.3	-	30	10393	c.10192G>A	c.(10192-10194)Gtg>Atg	p.V3398M	TNXB_ENST00000375247.2_Missense_Mutation_p.V3396M|TNXB_ENST00000451343.1_5'Flank			P22105	TENX_HUMAN	tenascin XB	3443	Fibronectin type-III 25. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACCGGCACCACCTGGAGCCGA	0.612																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(10192-10194)Gtg>Atg		tenascin XB							31	38	36					6																	32015643		1428	2650	4078	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32015643C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.10192G>A	6.37:g.32015643C>T	ENSP00000364393:p.Val3398Met					TNXB_ENST00000375247.2_Missense_Mutation_p.V3396M	p.V3398M			P22105	TENX_HUMAN			30	10393	-			3443					P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.10192G>A		.	.	.	.	.	.	.	.	.	.	C	7.008	0.556275	0.13436	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.57907	0.37;0.37	4.76	1.99	0.26369	.	0.921592	0.08990	N	0.864568	T	0.27063	0.0663	L	0.50333	1.59	0.09310	N	1	B	0.21520	0.057	B	0.27380	0.079	T	0.40079	-0.9582	10	0.46703	T	0.11	.	7.8756	0.29592	0.0:0.7316:0.0:0.2684	.	3396	P22105-3	.	M	3398;3396	ENSP00000364393:V3398M;ENSP00000364396:V3396M	ENSP00000364393:V3398M	V	-	1	0	TNXB	32123621	0.053000	0.20554	0.005000	0.12908	0.005000	0.04900	0.587000	0.23909	0.219000	0.20840	0.591000	0.81541	GTG		0.612	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		10	14	0	0	0	1	0	10	14					T	32015643	C	T	32015643	3	4	343	1	0	0	0	0	1	0	0	0	16343	507	18	2	4587	2	TNXB	6	32015643	Missense_Mutation	SNP	C	TCGA-EM-A4FK-01A-11D-A257-08		32015643	139099424	6	7314											
DCHS1	8642	broad.mit.edu	37	chr11	6653563	6653563	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aattcctgggcctcacggtcTagtgctgcccgcacccatag	10	15	2	0			TCGA-EM-A4FK-01A-11D-A257-08	TCGA-EM-A4FK-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04e58e29-933d-4488-91a8-06a5ee8f408d	db575be4-4c41-4cf6-8883-b31b1377db2c	g.chr11:6653563T>G	ENST00000299441.3	-	6	3591	c.3180A>C	c.(3178-3180)ctA>ctC	p.L1060L	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1060	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTCACGGTCTAGTGCTGCCC	0.592																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(3178-3180)ctA>ctC		dachsous cadherin-related 1							98	83	88					11																	6653563		2201	4296	6497	SO:0001819	synonymous_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6653563T>G	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.3180A>C	11.37:g.6653563T>G						RP11-732A19.6_ENST00000526633.1_RNA	p.L1060L	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	6	3591	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1060			Cadherin 10.		O15098	Silent	SNP	ENST00000299441.3	37	c.3180A>C	CCDS7771.1																																																																																				0.592	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		18	29	0	0	0	1	0	18	29					G	6653563	T	G	6653563	2	3	343	1	0	0	0	0	0	0	0	1	4287	1509	53	5		5	DCHS1	11	6653563	Silent	SNP	T	TCGA-EM-A4FK-01A-11D-A257-08		6653563	128352953	7	7315											
KIAA1409	57578	broad.mit.edu	37	chr14	94067104	94067104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggattgtaacaaggaatttCcttttcctacaagtaagtaa	7	6	0	0			TCGA-EM-A4FK-01A-11D-A257-08	TCGA-EM-A4FK-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04e58e29-933d-4488-91a8-06a5ee8f408d	db575be4-4c41-4cf6-8883-b31b1377db2c	g.chr14:94067104C>T	ENST00000393151.2	+	25	3562	c.3562C>T	c.(3562-3564)Cct>Tct	p.P1188S	UNC79_ENST00000555664.1_Missense_Mutation_p.P1188S|UNC79_ENST00000256339.4_Missense_Mutation_p.P1011S|UNC79_ENST00000553484.1_Missense_Mutation_p.P1188S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1188					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CAAGGAATTTCCTTTTCCTAC	0.403																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(3562-3564)Cct>Tct		unc-79 homolog (C. elegans)							84	81	82					14																	94067104		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94067104C>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.3562C>T	14.37:g.94067104C>T	ENSP00000376858:p.Pro1188Ser					UNC79_ENST00000555664.1_Missense_Mutation_p.P1188S|UNC79_ENST00000393151.2_Missense_Mutation_p.P1188S|UNC79_ENST00000256339.4_Missense_Mutation_p.P1011S	p.P1188S			Q9P2D8	UNC79_HUMAN			25	3716	+			1188					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.3562C>T		.	.	.	.	.	.	.	.	.	.	C	15.39	2.820897	0.50633	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.22551	0.0544	N	0.05078	-0.115	0.58432	D	0.999997	D	0.71674	0.998	D	0.80764	0.994	T	0.28681	-1.0036	10	0.12766	T	0.61	-14.614	20.6593	0.99626	0.0:1.0:0.0:0.0	.	1188	C9JQL1	.	S	1011;1188;1188;1188;1188	ENSP00000256339:P1011S;ENSP00000450868:P1188S;ENSP00000451360:P1188S;ENSP00000376858:P1188S	ENSP00000256339:P1011S	P	+	1	0	KIAA1409	93136857	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.885000	0.99019	0.655000	0.94253	CCT		0.403	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		7	15	0	0	0	1	0	7	15					T	94067104	C	T	94067104	3	4	343	1	0	0	0	0	1	0	0	0	8230	855	30	2	3117	2	KIAA1409	14	94067104	Missense_Mutation	SNP	C	TCGA-EM-A4FK-01A-11D-A257-08		94067104	13282436	8	7316											
ANKRD11	29123	broad.mit.edu	37	chr16	89345698	89345698	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcttgatggcgtccacgaTggcggccagcgtctgctgga	15	12	1	1			TCGA-EM-A4FK-01A-11D-A257-08	TCGA-EM-A4FK-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04e58e29-933d-4488-91a8-06a5ee8f408d	db575be4-4c41-4cf6-8883-b31b1377db2c	g.chr16:89345698T>C	ENST00000301030.4	-	9	7712	c.7252A>G	c.(7252-7254)Atc>Gtc	p.I2418V	ANKRD11_ENST00000378330.2_Missense_Mutation_p.I2418V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2418					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCGTCCACGATGGCGGCCAGC	0.617																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(7252-7254)Atc>Gtc		ankyrin repeat domain 11							25	23	24					16																	89345698		2198	4299	6497	SO:0001583	missense	29123					nucleus		g.chr16:89345698T>C	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.7252A>G	16.37:g.89345698T>C	ENSP00000301030:p.Ile2418Val					ANKRD11_ENST00000378330.2_Missense_Mutation_p.I2418V	p.I2418V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	7712	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	2418					Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.7252A>G	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	t	10.16	1.274966	0.23307	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.42513	0.97;0.97	4.96	4.96	0.65561	.	0.259771	0.30492	N	0.009519	T	0.38241	0.1033	L	0.50333	1.59	0.80722	D	1	B	0.29188	0.236	B	0.26416	0.069	T	0.21008	-1.0258	10	0.37606	T	0.19	.	14.6349	0.68682	0.0:0.0:0.0:1.0	.	2418	Q6UB99	ANR11_HUMAN	V	2418	ENSP00000301030:I2418V;ENSP00000367581:I2418V	ENSP00000301030:I2418V	I	-	1	0	ANKRD11	87873199	1.000000	0.71417	1.000000	0.80357	0.518000	0.34316	3.767000	0.55288	1.865000	0.54081	0.157000	0.16456	ATC		0.617	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		7	17	0	0	0	1	0	7	17					C	89345698	T	C	89345698	3	2	343	1	0	0	0	0	1	0	0	0	639	1464	51	3	759	3	ANKRD11	16	89345698	Missense_Mutation	SNP	T	TCGA-EM-A4FK-01A-11D-A257-08		89345698	1009055	9	7317											
RBM12	10137	broad.mit.edu	37	chr20	34241438	34241438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagttttttacggtgtaagcGttcagacttacgtgcatcat	9	7	2	1			TCGA-EM-A4FK-01A-11D-A257-08	TCGA-EM-A4FK-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04e58e29-933d-4488-91a8-06a5ee8f408d	db575be4-4c41-4cf6-8883-b31b1377db2c	g.chr20:34241438G>A	ENST00000374114.3	-	3	2070	c.1807C>T	c.(1807-1809)Cgc>Tgc	p.R603C	CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317619.3_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.R603C|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000352393.4_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.R603C|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397443.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	603						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CGGTGTAAGCGTTCAGACTTA	0.398																																						ENST00000374114.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1807-1809)Cgc>Tgc		RNA binding motif protein 12							183	175	178					20																	34241438		2203	4300	6503	SO:0001583	missense	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34241438G>A	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"RNA binding motif (RRM) containing"	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.1807C>T	20.37:g.34241438G>A	ENSP00000363228:p.Arg603Cys					CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000317677.5_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.R603C|CPNE1_ENST00000317619.3_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.R603C|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397443.1_Intron	p.R603C	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	2070	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		603					B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	c.1807C>T	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.271231	0.40194	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.17528	2.27;2.27;2.27	5.1	3.18	0.36537	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.071171	0.56097	D	0.000034	T	0.18718	0.0449	L	0.56769	1.78	0.80722	D	1	B	0.06786	0.001	B	0.12837	0.008	T	0.04347	-1.0958	10	0.87932	D	0	1.8231	11.2924	0.49258	0.1452:0.0:0.8548:0.0	.	603	Q9NTZ6	RBM12_HUMAN	C	603;603;603;402	ENSP00000363228:R603C;ENSP00000352668:R603C;ENSP00000363217:R603C	ENSP00000339879:R402C	R	-	1	0	RBM12	33704852	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.735000	0.62051	0.747000	0.32809	-0.251000	0.11542	CGC		0.398	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		54	95	0	0	0	1	0	54	95					A	34241438	G	A	34241438	3	1	343	1	0	0	0	0	1	0	0	0	13113	1145	40	1	995	1	RBM12	20	34241438	Missense_Mutation	SNP	G	TCGA-EM-A4FK-01A-11D-A257-08		34241438	28784082	10	7318											
TTLL8	164714	broad.mit.edu	37	chr22	50472804	50472804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctcggccccgggacttggCcgcgggctttataatccaga	12	14	0	1			TCGA-EM-A4FK-01A-11D-A257-08	TCGA-EM-A4FK-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04e58e29-933d-4488-91a8-06a5ee8f408d	db575be4-4c41-4cf6-8883-b31b1377db2c	g.chr22:50472804C>T	ENST00000266182.6	-	9	1008	c.1009G>A	c.(1009-1011)Gcc>Acc	p.A337T	TTLL8_ENST00000440475.1_Missense_Mutation_p.A321T			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	357	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		CGGGACTTGGCCGCGGGCTTT	0.592																																						ENST00000266182.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12						c.(1009-1011)Gcc>Acc		tubulin tyrosine ligase-like family, member 8							39	43	42					22																	50472804		1909	4105	6014	SO:0001583	missense	164714							g.chr22:50472804C>T			22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"Tubulin tyrosine ligase-like family"	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.1009G>A	22.37:g.50472804C>T	ENSP00000266182:p.Ala337Thr					TTLL8_ENST00000440475.1_Missense_Mutation_p.A321T	p.A337T						READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)	9	1008	-		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)						B5MDV0	Missense_Mutation	SNP	ENST00000266182.6	37	c.1009G>A		.	.	.	.	.	.	.	.	.	.	C	18.82	3.705389	0.68615	.	.	ENSG00000138892	ENST00000266182;ENST00000440475;ENST00000433387	T;T;T	0.42900	3.26;0.96;0.96	4.48	4.48	0.54585	.	0.129159	0.52532	D	0.000074	T	0.66208	0.2766	M	0.82132	2.575	0.41865	D	0.990244	D	0.89917	1.0	D	0.72338	0.977	T	0.73069	-0.4099	10	0.72032	D	0.01	.	16.2818	0.82694	0.0:1.0:0.0:0.0	.	337	B5MDV0	.	T	337;321;357	ENSP00000266182:A337T;ENSP00000387509:A321T;ENSP00000392252:A357T	ENSP00000266182:A337T	A	-	1	0	TTLL8	48814931	1.000000	0.71417	0.923000	0.36655	0.294000	0.27393	5.385000	0.66231	2.194000	0.70268	0.462000	0.41574	GCC		0.592	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001080447		3	30	0	0	0	1	0	3	30					T	50472804	C	T	50472804	3	4	343	1	0	0	0	0	1	0	0	0	16730	739	26	2	1518	2	TTLL8	22	50472804	Missense_Mutation	SNP	C	TCGA-EM-A4FK-01A-11D-A257-08		50472804	831762	11	7319											
EPHA2	1969	broad.mit.edu	37	chr1	16475507	16475507	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacacggagtacatgtagatCggcatgtcattcatgatgtt	10	8	2	2	rs144914242		TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr1:16475507C>T	ENST00000358432.5	-	3	343	c.189G>A	c.(187-189)ccG>ccA	p.P63P	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	63	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.|Mediates interaction with CLDN4.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	ACATGTAGATCGGCATGTCAT	0.562													C|||	1	0.000199681	0	0	5008	,	,		21591	0.001		0	False		,,,				2504	0					ENST00000358432.5																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(187-189)ccG>ccA		EPH receptor A2	Dasatinib(DB01254)						102	87	92					1																	16475507		2203	4300	6503	SO:0001819	synonymous_variant	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16475507C>T	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3386	protein-coding gene	gene with protein product		176946	"EphA2"	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.189G>A	1.37:g.16475507C>T						EPHA2_ENST00000461614.1_5'UTR	p.P63P	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	3	343	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	63					B5A968|Q8N3Z2	Silent	SNP	ENST00000358432.5	37	c.189G>A	CCDS169.1																																																																																				0.562	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		4	68	0	0	0	1	0	4	68					T	16475507	C	T	16475507	2	4	344	1	0	0	0	0	0	0	0	1	5167	871	31	1		1	EPHA2	1	16475507	Silent	SNP	C	TCGA-EM-A4FM-01A-11D-A257-08		16475507	232775114	1	7320											
CENPF	1063	broad.mit.edu	37	chr1	214822144	214822144	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagctggagagttgcagttaCtgttggaagaaataaagagc	13	4	0	3	rs142818960		TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr1:214822144C>T	ENST00000366955.3	+	14	8125	c.7957C>T	c.(7957-7959)Ctg>Ttg	p.L2653L	CENPF_ENST00000467765.1_3'UTR	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2749	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GTTGCAGTTACTGTTGGAAGA	0.408																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(7957-7959)Ctg>Ttg		centromere protein F, 350/400kDa		C		1,4405	2.1+/-5.4	0,1,2202	127	133	131		7957	-2.4	0.0	1	dbSNP_134	131	0,8600		0,0,4300	no	coding-synonymous	CENPF	NM_016343.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		2653/3115	214822144	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214822144C>T	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.7957C>T	1.37:g.214822144C>T						CENPF_ENST00000467765.1_3'UTR	p.L2653L	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	14	8125	+			2749			Sufficient for centromere localization.|Sufficient for self-association.		Q13171|Q13246|Q5VVM7	Silent	SNP	ENST00000366955.3	37	c.7957C>T	CCDS31023.1																																																																																				0.408	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		4	63	0	0	0	1	0	4	63					T	214822144	C	T	214822144	2	4	344	1	0	0	0	0	0	0	0	1	3231	564	20	2		2	CENPF	1	214822144	Silent	SNP	C	TCGA-EM-A4FM-01A-11D-A257-08	198346637	214822144	34428477	2	7321											
GPR113	165082	broad.mit.edu	37	chr2	26537317	26537317	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggctccaggccgcggtgTaggccaggtttgtgctgggg	19	10	0	0	rs150700942	byFrequency	TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr2:26537317T>C	ENST00000311519.1	-	7	1096	c.1097A>G	c.(1096-1098)tAc>tGc	p.Y366C	GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000333478.6_Missense_Mutation_p.Y167C|GPR113_ENST00000421160.2_Missense_Mutation_p.Y297C|GPR113_ENST00000541401.1_Intron	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	366					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCGCGGTGTAGGCCAGGTT	0.637													T|||	9	0.00179712	0	0	5008	,	,		18041	0		0.0089	False		,,,				2504	0					ENST00000333478.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(499-501)tAc>tGc		G protein-coupled receptor 113		T	CYS/TYR,CYS/TYR,CYS/TYR	4,4402	8.1+/-20.4	0,4,2199	75	73	74		1097,890,500	5.3	0.7	2	dbSNP_134	74	43,8557	28.5+/-78.6	0,43,4257	yes	missense,missense,missense	GPR113	NM_001145168.1,NM_001145169.1,NM_153835.3	194,194,194	0,47,6456	CC,CT,TT		0.5,0.0908,0.3614	probably-damaging,probably-damaging,probably-damaging	366/1080,297/998,167/874	26537317	47,12959	2203	4300	6503	SO:0001583	missense	165082				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:26537317T>C	AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"-", "GPCR / Class B : Orphans"	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.1097A>G	2.37:g.26537317T>C	ENSP00000307831:p.Tyr366Cys					GPR113_ENST00000421160.2_Missense_Mutation_p.Y297C|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000541401.1_Intron|GPR113_ENST00000311519.1_Missense_Mutation_p.Y366C	p.Y167C	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN			4	1082	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		366					B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Missense_Mutation	SNP	ENST00000311519.1	37	c.500A>G	CCDS46239.1	8	0.003663003663003663	0	0.0	0	0.0	0	0.0	8	0.010554089709762533	T	15.40	2.822794	0.50739	9.08E-4	0.005	ENSG00000173567	ENST00000333478;ENST00000421160;ENST00000311519	T;T;T	0.08807	3.05;3.05;3.05	5.3	5.3	0.74995	.	.	.	.	.	T	0.18509	0.0444	L	0.61218	1.895	0.80722	D	1	D;P;D	0.69078	0.997;0.936;0.997	D;P;D	0.73708	0.971;0.642;0.981	T	0.00294	-1.1840	9	0.87932	D	0	-25.5918	13.1944	0.59730	0.0:0.0:0.0:1.0	.	297;167;366	E9PEV1;Q8IZF5-2;Q8IZF5	.;.;GP113_HUMAN	C	167;297;366	ENSP00000327396:Y167C;ENSP00000388537:Y297C;ENSP00000307831:Y366C	ENSP00000307831:Y366C	Y	-	2	0	GPR113	26390821	1.000000	0.71417	0.731000	0.30826	0.299000	0.27559	2.684000	0.46951	2.024000	0.59613	0.379000	0.24179	TAC		0.637	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835		5	63	0	0	0	1	0	5	63					C	26537317	T	C	26537317	3	2	344	1	0	0	0	0	1	0	0	0	6630	1638	57	3	2259	3	GPR113	2	26537317	Missense_Mutation	SNP	T	TCGA-EM-A4FM-01A-11D-A257-08		26537317	216662056	3	7322											
SENP2	59343	broad.mit.edu	37	chr3	185337150	185337150	+	Frame_Shift_Del	DEL	C	C	-													agcaaggctatccagcacttCatgtattcagtactttcttc							TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr3:185337150delC	ENST00000296257.5	+	13	1546	c.1306delC	c.(1306-1308)catfs	p.H436fs	SENP2_ENST00000427465.2_Frame_Shift_Del_p.H260fs|SENP2_ENST00000545472.1_Frame_Shift_Del_p.H426fs	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	436	Protease.				cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TCCAGCACTTCATGTATTCAG	0.373																																						ENST00000296257.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12						c.(1306-1308)atfs		SUMO1/sentrin/SMT3 specific peptidase 2							71	76	74					3																	185337150		2203	4300	6503	SO:0001589	frameshift_variant	59343				mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity	g.chr3:185337150delC	AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"SUMO1/sentrin/SMT3 specific protease 2"			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.1306delC	3.37:g.185337150delC	ENSP00000296257:p.His436fs					SENP2_ENST00000545472.1_Frame_Shift_Del_p.H426fs|SENP2_ENST00000427465.2_Frame_Shift_Del_p.H260fs	p.H436fs	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		13	1546	+	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		436			Protease.		B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Frame_Shift_Del	DEL	ENST00000296257.5	37	c.1306delC	CCDS33902.1																																																																																				0.373	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345159.1	NM_021627		26	34						26	34	---	---	---	---	-	185337150	C	-	185337150	7	5	344	1	0	1	0	1	0	0	0	0	14047	826	29	0	1356	0	SENP2	3	185337150	Frame_Shift_Del	DEL	C	TCGA-EM-A4FM-01A-11D-A257-08		185337150	12685280	4	7323											
LRRC15	131578	broad.mit.edu	37	chr3	194080125	194080125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccagggagcaggccagggCgacaatgccaattacaatgg	14	10	0	0	rs115716405	byFrequency	TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr3:194080125C>T	ENST00000347624.3	-	2	1733	c.1648G>A	c.(1648-1650)Gcc>Acc	p.A550T	LRRC15_ENST00000439944.2_Missense_Mutation_p.A556T|LRRC15_ENST00000428839.1_Missense_Mutation_p.A556T	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	550					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		CAGGCCAGGGCGACAATGCCA	0.582													C|||	10	0.00199681	0	0.0014	5008	,	,		19766	0.003		0.004	False		,,,				2504	0.002					ENST00000347624.3																			0				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1648-1650)Gcc>Acc		leucine rich repeat containing 15		C	THR/ALA,THR/ALA	6,4400	11.4+/-27.6	0,6,2197	62	63	63		1666,1648	5.5	1.0	3	dbSNP_132	63	18,8582	13.3+/-46.6	0,18,4282	yes	missense,missense	LRRC15	NM_001135057.2,NM_130830.4	58,58	0,24,6479	TT,TC,CC		0.2093,0.1362,0.1845	probably-damaging,probably-damaging	556/588,550/582	194080125	24,12982	2203	4300	6503	SO:0001583	missense	131578					integral to membrane		g.chr3:194080125C>T	AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.1648G>A	3.37:g.194080125C>T	ENSP00000306276:p.Ala550Thr					LRRC15_ENST00000428839.1_Missense_Mutation_p.A556T|LRRC15_ENST00000439944.2_Missense_Mutation_p.A556T	p.A550T	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)	2	1733	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		550					Q495Q6|Q7RTN7	Missense_Mutation	SNP	ENST00000347624.3	37	c.1648G>A	CCDS3306.1	6	0.0027472527472527475	0	0.0	1	0.0027624309392265192	2	0.0034965034965034965	3	0.00395778364116095	C	16.03	3.006930	0.54361	0.001362	0.002093	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.57595	0.39;0.44;0.44	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000003	T	0.57989	0.2091	L	0.27053	0.805	0.43540	D	0.995833	D;D	0.76494	0.998;0.999	P;D	0.64506	0.846;0.926	T	0.54603	-0.8269	10	0.36615	T	0.2	.	15.3547	0.74418	0.1401:0.8599:0.0:0.0	.	550;556	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	T	550;556;556	ENSP00000306276:A550T;ENSP00000389128:A556T;ENSP00000413707:A556T	ENSP00000306276:A550T	A	-	1	0	LRRC15	195561420	0.782000	0.28689	0.957000	0.39632	0.451000	0.32288	1.340000	0.33896	2.758000	0.94735	0.563000	0.77884	GCC		0.582	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			4	67	0	0	0	1	0	4	67					T	194080125	C	T	194080125	3	4	344	1	0	0	0	0	1	0	0	0	8970	768	27	1	101	1	LRRC15	3	194080125	Missense_Mutation	SNP	C	TCGA-EM-A4FM-01A-11D-A257-08	8742975	194080125	3942305	5	7324											
PLEKHG4B	153478	broad.mit.edu	37	chr5	156214	156214	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgagttaattgaccagcatgAgacgatgatgaagcttgtcc	11	8	0	4			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr5:156214A>T	ENST00000283426.6	+	8	1219	c.1169A>T	c.(1168-1170)gAg>gTg	p.E390V		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	390							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GACCAGCATGAGACGATGATG	0.582																																						ENST00000283426.6																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.(1168-1170)gAg>gTg		pleckstrin homology domain containing, family G (with RhoGef domain) member 4B							129	120	123					5																	156214		2203	4300	6503	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:156214A>T	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"Pleckstrin homology (PH) domain containing"	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.1169A>T	5.37:g.156214A>T	ENSP00000283426:p.Glu390Val						p.E390V	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	8	1219	+			390						Missense_Mutation	SNP	ENST00000283426.6	37	c.1169A>T	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	A	14.09	2.432414	0.43224	.	.	ENSG00000153404	ENST00000283426;ENST00000502646	T;T	0.29917	1.55;2.97	3.65	-1.63	0.08345	.	.	.	.	.	T	0.21801	0.0525	L	0.40543	1.245	0.09310	N	1	P	0.48230	0.907	B	0.41036	0.346	T	0.13791	-1.0496	9	0.44086	T	0.13	.	7.0739	0.25193	0.641:0.0:0.359:0.0	.	390	Q96PX9	PKH4B_HUMAN	V	390;304	ENSP00000283426:E390V;ENSP00000422493:E304V	ENSP00000283426:E390V	E	+	2	0	PLEKHG4B	209214	0.932000	0.31603	0.000000	0.03702	0.007000	0.05969	1.530000	0.36007	-0.527000	0.06374	0.383000	0.25322	GAG		0.582	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		26	46	0	0	0	1	0	26	46					T	156214	A	T	156214	3	4	344	1	0	0	0	0	1	0	0	0	12072	304	11	5	1199	5	PLEKHG4B	5	156214	Missense_Mutation	SNP	A	TCGA-EM-A4FM-01A-11D-A257-08		156214	180759046	6	7325											
ITGA2	3673	broad.mit.edu	37	chr5	52285331	52285331	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggacaggggccgcgccgctGccgctgctgctggtgttagc	17	14	0	0			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr5:52285331G>A	ENST00000296585.5	+	1	176	c.33G>A	c.(31-33)ctG>ctA	p.L11L	CTD-2175A23.1_ENST00000503559.1_RNA|CTD-2175A23.1_ENST00000505701.1_RNA	NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	11					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CCGCGCCGCTGCCGCTGCTGC	0.672																																						ENST00000296585.5																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(31-33)ctG>ctA		integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)							45	52	50					5																	52285331		2203	4299	6502	SO:0001819	synonymous_variant	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52285331G>A		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"CD molecules", "Integrins"	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.33G>A	5.37:g.52285331G>A						CTD-2175A23.1_ENST00000505701.1_RNA|CTD-2175A23.1_ENST00000503559.1_RNA	p.L11L	NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN			1	176	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	11					Q14595	Silent	SNP	ENST00000296585.5	37	c.33G>A	CCDS3957.1																																																																																				0.672	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		4	74	0	0	0	1	0	4	74					A	52285331	G	A	52285331	2	1	344	1	0	0	0	0	0	0	0	1	7875	1306	46	2		2	ITGA2	5	52285331	Silent	SNP	G	TCGA-EM-A4FM-01A-11D-A257-08	52129117	52285331	128629929	7	7326											
PCDHA10	56139	broad.mit.edu	37	chr5	140237165	140237165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctacgtgtcggtgcacgCggagagcggcaaggtgtacg	18	9	0	1			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr5:140237165C>T	ENST00000307360.5	+	1	1532	c.1532C>T	c.(1531-1533)gCg>gTg	p.A511V	PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A511V|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	511	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGTGCACGCGGAGAGCGGC	0.701																																						ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(1531-1533)gCg>gTg									66	73	71					5																	140237165		2196	4274	6470	SO:0001583	missense	0							g.chr5:140237165C>T	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1532C>T	5.37:g.140237165C>T	ENSP00000304234:p.Ala511Val					PCDHA10_ENST00000506939.2_Missense_Mutation_p.A511V|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.A511V	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1532	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1532C>T	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.941737	0.53079	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.61627	0.09;0.64	3.63	2.72	0.32119	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.67878	0.2940	L	0.45698	1.435	0.21579	N	0.999634	D;D;D	0.69078	0.997;0.992;0.988	D;P;P	0.67725	0.953;0.819;0.815	T	0.59643	-0.7416	9	0.87932	D	0	.	13.082	0.59119	0.0:0.8373:0.1627:0.0	.	511;511;511	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	V	511	ENSP00000421030:A511V;ENSP00000304234:A511V	ENSP00000304234:A511V	A	+	2	0	PCDHA10	140217349	0.119000	0.22226	0.999000	0.59377	0.459000	0.32528	4.092000	0.57707	0.807000	0.34208	0.561000	0.74099	GCG		0.701	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		40	91	0	0	0	1	0	40	91					T	140237165	C	T	140237165	3	4	344	1	0	0	0	0	1	0	0	0	11520	768	27	1	1534	1	PCDHA10	5	140237165	Missense_Mutation	SNP	C	TCGA-EM-A4FM-01A-11D-A257-08	87951834	140237165	40678095	8	7327											
TULP1	7287	broad.mit.edu	37	chr6	35473554	35473554	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattctcccctcctcgggacAgattggtagggtcgatggag	13	10	1	1			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr6:35473554A>G	ENST00000229771.6	-	11	1155	c.1076T>C	c.(1075-1077)cTg>cCg	p.L359P	TULP1_ENST00000322263.4_Missense_Mutation_p.L306P	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	359					dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						TCCTCGGGACAGATTGGTAGG	0.577																																					GBM(55;1027 1091 11115 23439)	ENST00000229771.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1075-1077)cTg>cCg		tubby like protein 1							91	82	85					6																	35473554		2203	4300	6503	SO:0001583	missense	7287				dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding	g.chr6:35473554A>G	U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.1076T>C	6.37:g.35473554A>G	ENSP00000229771:p.Leu359Pro					TULP1_ENST00000322263.4_Missense_Mutation_p.L306P	p.L359P	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN			11	1155	-			359					O43536|Q5TGM5|Q8N571	Missense_Mutation	SNP	ENST00000229771.6	37	c.1076T>C	CCDS4807.1	.	.	.	.	.	.	.	.	.	.	A	19.08	3.757216	0.69648	.	.	ENSG00000112041	ENST00000229771;ENST00000322263	D;D	0.97529	-4.42;-4.42	4.4	4.4	0.53042	Tubby, C-terminal (4);	0.082541	0.50627	D	0.000114	D	0.98988	0.9655	H	0.97806	4.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99278	1.0895	10	0.87932	D	0	-3.0983	13.8182	0.63306	1.0:0.0:0.0:0.0	.	306;359	O00294-2;O00294	.;TULP1_HUMAN	P	359;306	ENSP00000229771:L359P;ENSP00000319414:L306P	ENSP00000229771:L359P	L	-	2	0	TULP1	35581532	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	9.079000	0.94032	1.861000	0.53984	0.402000	0.26972	CTG		0.577	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2			24	26	0	0	0	1	0	24	26					G	35473554	A	G	35473554	3	3	344	1	0	0	0	0	1	0	0	0	16770	188	7	3	572	3	TULP1	6	35473554	Missense_Mutation	SNP	A	TCGA-EM-A4FM-01A-11D-A257-08		35473554	135641513	9	7328											
PKHD1	5314	broad.mit.edu	37	chr6	51892687	51892687	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgtgaggtactggatgtggaGatcaaccctacagaagatag	13	6	1	4			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr6:51892687G>A	ENST00000371117.3	-	31	3843	c.3568C>T	c.(3568-3570)Ctc>Ttc	p.L1190F	PKHD1_ENST00000340994.4_Missense_Mutation_p.L1190F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1190	IPT/TIG 6; atypical.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGGATGTGGAGATCAACCCTA	0.443																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(3568-3570)Ctc>Ttc		polycystic kidney and hepatic disease 1 (autosomal recessive)							72	71	71					6																	51892687		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51892687G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3568C>T	6.37:g.51892687G>A	ENSP00000360158:p.Leu1190Phe					PKHD1_ENST00000340994.4_Missense_Mutation_p.L1190F	p.L1190F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			31	3843	-	Lung NSC(77;0.0605)		1190			IPT/TIG 6; atypical.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.3568C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710968	0.68730	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87650	-2.07;-2.28	5.71	4.84	0.62591	Cell surface receptor IPT/TIG (1);Immunoglobulin-like fold (1);	0.089544	0.48767	D	0.000172	D	0.89241	0.6659	M	0.69823	2.125	0.31280	N	0.690749	D;D	0.76494	0.999;0.998	D;D	0.73708	0.981;0.915	D	0.86203	0.1620	10	0.32370	T	0.25	.	13.8898	0.63731	0.0731:0.0:0.9269:0.0	.	1190;1190	P08F94-2;P08F94	.;PKHD1_HUMAN	F	1190	ENSP00000360158:L1190F;ENSP00000341097:L1190F	ENSP00000341097:L1190F	L	-	1	0	PKHD1	52000646	0.998000	0.40836	0.981000	0.43875	0.932000	0.56968	2.960000	0.49161	1.408000	0.46895	0.655000	0.94253	CTC		0.443	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		17	13	0	0	0	1	0	17	13					A	51892687	G	A	51892687	3	1	344	1	0	0	0	0	1	0	0	0	11971	942	33	2	8843	2	PKHD1	6	51892687	Missense_Mutation	SNP	G	TCGA-EM-A4FM-01A-11D-A257-08	16419133	51892687	119222380	10	7329											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		23	53	0	0	0	1	0	23	53					T	140453136	A	T	140453136	3	4	344	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A4FM-01A-11D-A257-08		140453136	18685527	11	7330											
KIAA0649	9858	broad.mit.edu	37	chr9	138379139	138379139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagggcgggaaggggctccCtgctgctcctgcccgagggg	18	14	0	0			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr9:138379139C>T	ENST00000356818.2	+	4	3332	c.2783C>T	c.(2782-2784)cCt>cTt	p.P928L	PPP1R26_ENST00000604351.1_Missense_Mutation_p.P928L|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Missense_Mutation_p.P928L|PPP1R26_ENST00000605660.1_Missense_Mutation_p.P928L|PPP1R26_ENST00000605286.1_Missense_Mutation_p.P928L	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	928					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										AAGGGGCTCCCTGCTGCTCCT	0.672																																						ENST00000356818.2																			0											c.(2782-2784)cCt>cTt		protein phosphatase 1, regulatory subunit 26							29	36	34					9																	138379139		2010	3940	5950	SO:0001583	missense	9858					nucleolus	protein binding	g.chr9:138379139C>T	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29089	protein-coding gene	gene with protein product	"DRIM/UTP20 interacting protein", "1A6/DRIM (down-regulated in metastasis) interacting protein"	614056	"KIAA0649"	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.2783C>T	9.37:g.138379139C>T	ENSP00000349274:p.Pro928Leu					PPP1R26_ENST00000401470.3_Missense_Mutation_p.P928L|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Missense_Mutation_p.P928L|PPP1R26_ENST00000605286.1_Missense_Mutation_p.P928L|PPP1R26_ENST00000604351.1_Missense_Mutation_p.P928L	p.P928L	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	3332	+			928					Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	ENST00000356818.2	37	c.2783C>T	CCDS6988.1	.	.	.	.	.	.	.	.	.	.	C	9.863	1.196912	0.22037	.	.	ENSG00000196422	ENST00000356818	T	0.12039	2.72	5.01	2.93	0.34026	.	0.978768	0.08376	N	0.955239	T	0.14917	0.0360	L	0.29908	0.895	0.09310	N	1	P	0.46512	0.879	P	0.45377	0.478	T	0.27262	-1.0079	10	0.52906	T	0.07	-4.9793	11.3355	0.49500	0.3798:0.6202:0.0:0.0	.	928	Q5T8A7	PPR26_HUMAN	L	928	ENSP00000349274:P928L	ENSP00000349274:P928L	P	+	2	0	KIAA0649	137518960	0.000000	0.05858	0.002000	0.10522	0.025000	0.11179	0.409000	0.21082	1.078000	0.41014	0.462000	0.41574	CCT		0.672	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		10	64	0	0	0	1	0	10	64					T	138379139	C	T	138379139	3	4	344	1	0	0	0	0	1	0	0	0	8187	681	24	2	2785	2	KIAA0649	9	138379139	Missense_Mutation	SNP	C	TCGA-EM-A4FM-01A-11D-A257-08		138379139	2834292	12	7331											
RGR	5995	broad.mit.edu	37	chr10	86014089	86014089	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctctccctgtagaaacttcAccagcttcctcttcaccatg	5	16	4	1			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr10:86014089A>T	ENST00000359452.4	+	5	570	c.532A>T	c.(532-534)Acc>Tcc	p.T178S	RGR_ENST00000358110.5_Missense_Mutation_p.T174S	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	174					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						TAGAAACTTCACCAGCTTCCT	0.552																																					NSCLC(15;204 545 5889 6385 32445)	ENST00000359452.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						c.(532-534)Acc>Tcc		retinal G protein coupled receptor							207	177	187					10																	86014089		2203	4300	6503	SO:0001583	missense	5995				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding	g.chr10:86014089A>T	BC011349	CCDS7374.1, CCDS41543.1	10q23	2013-02-14			ENSG00000148604	ENSG00000148604		"GPCR / Class A : Opsin receptors"	9990	protein-coding gene	gene with protein product	"RGR-opsin"	600342				8641686	Standard	NM_002921		Approved	RP44	uc001kdd.1	P47804	OTTHUMG00000018636	ENST00000359452.4:c.532A>T	10.37:g.86014089A>T	ENSP00000352427:p.Thr178Ser					RGR_ENST00000358110.5_Missense_Mutation_p.T174S	p.T178S	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN			5	570	+			174					A6NKK7|Q96FC5	Missense_Mutation	SNP	ENST00000359452.4	37	c.532A>T	CCDS7374.1	.	.	.	.	.	.	.	.	.	.	A	15.36	2.810036	0.50421	.	.	ENSG00000148604	ENST00000359452;ENST00000358110	T;T	0.36878	1.23;1.23	4.87	3.73	0.42828	GPCR, rhodopsin-like superfamily (1);	0.354367	0.32357	N	0.006204	T	0.31979	0.0814	L	0.43152	1.355	0.23997	N	0.996224	B;P;B	0.43633	0.001;0.813;0.004	B;P;B	0.44447	0.026;0.45;0.02	T	0.08911	-1.0699	10	0.23891	T	0.37	.	9.8976	0.41329	0.916:0.0:0.084:0.0	.	174;178;174	P47804-3;P47804-2;P47804	.;.;RGR_HUMAN	S	178;174	ENSP00000352427:T178S;ENSP00000350823:T174S	ENSP00000350823:T174S	T	+	1	0	RGR	86004069	1.000000	0.71417	0.997000	0.53966	0.647000	0.38526	2.599000	0.46231	0.973000	0.38340	0.459000	0.35465	ACC		0.552	RGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049116.1	NM_002921		32	45	0	0	0	1	0	32	45					T	86014089	A	T	86014089	3	4	344	1	0	0	0	0	1	0	0	0	13291	159	6	5	550	5	RGR	10	86014089	Missense_Mutation	SNP	A	TCGA-EM-A4FM-01A-11D-A257-08		86014089	49520658	13	7332											
LRFN4	78999	broad.mit.edu	37	chr11	66626537	66626537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttccaaatccagtacaacaGcagcgaagatgagaccctca	8	12	1	2			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr11:66626537G>A	ENST00000309602.4	+	1	1565	c.1322G>A	c.(1321-1323)aGc>aAc	p.S441N	PC_ENST00000393955.2_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393958.2_Intron|PC_ENST00000393960.1_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	441	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						CAGTACAACAGCAGCGAAGAT	0.662																																						ENST00000309602.4																			0				breast(1)|lung(1)|prostate(1)	3						c.(1321-1323)aGc>aAc		leucine rich repeat and fibronectin type III domain containing 4							65	66	66					11																	66626537		2196	4283	6479	SO:0001583	missense	78999					integral to membrane		g.chr11:66626537G>A	BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	28456	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 6"	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.1322G>A	11.37:g.66626537G>A	ENSP00000312535:p.Ser441Asn					PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393955.2_Intron|PC_ENST00000393960.1_Intron	p.S441N	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN			1	1565	+			441			Fibronectin type-III.		Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Missense_Mutation	SNP	ENST00000309602.4	37	c.1322G>A	CCDS8153.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047842	0.75846	.	.	ENSG00000173621	ENST00000309602	T	0.57436	0.4	4.26	4.26	0.50523	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000014	T	0.61912	0.2385	L	0.55213	1.73	0.80722	D	1	D	0.63046	0.992	D	0.68483	0.958	T	0.57183	-0.7855	10	0.07990	T	0.79	.	14.2032	0.65719	0.0:0.0:1.0:0.0	.	441	Q6PJG9	LRFN4_HUMAN	N	441	ENSP00000312535:S441N	ENSP00000312535:S441N	S	+	2	0	LRFN4	66383113	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.330000	0.96422	2.214000	0.71695	0.462000	0.41574	AGC		0.662	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393127.1	NM_024036		30	60	0	0	0	1	0	30	60					A	66626537	G	A	66626537	3	1	344	1	0	0	0	0	1	0	0	0	8940	971	34	2	1324	2	LRFN4	11	66626537	Missense_Mutation	SNP	G	TCGA-EM-A4FM-01A-11D-A257-08		66626537	68379979	14	7333											
PCSK7	9159	broad.mit.edu	37	chr11	117094847	117094847	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcgtagttgcagttgtcgTtgtgttggcctccgttgcca	12	10	0	0			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr11:117094847T>C	ENST00000320934.3	-	8	1631	c.1001A>G	c.(1000-1002)aAc>aGc	p.N334S	PCSK7_ENST00000540028.1_5'UTR	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	334	Peptidase S8.				peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GCAGTTGTCGTTGTGTTGGCC	0.547			T	IGH@	MLCLS																																	ENST00000320934.3				Dom	yes		11	11q23.3	9159	T	proprotein convertase subtilisin/kexin type 7			L	IGH@		MLCLS		0				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16						c.(1000-1002)aAc>aGc		proprotein convertase subtilisin/kexin type 7							316	235	263					11																	117094847		2201	4296	6497	SO:0001583	missense	9159				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity	g.chr11:117094847T>C	U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.1001A>G	11.37:g.117094847T>C	ENSP00000325917:p.Asn334Ser					PCSK7_ENST00000540028.1_5'UTR	p.N334S	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)	8	1631	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	334			Catalytic.		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Missense_Mutation	SNP	ENST00000320934.3	37	c.1001A>G	CCDS8382.1	.	.	.	.	.	.	.	.	.	.	T	14.77	2.633579	0.47049	.	.	ENSG00000160613	ENST00000320934;ENST00000543900	D	0.87179	-2.22	5.6	4.48	0.54585	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.136637	0.64402	D	0.000003	T	0.76652	0.4017	N	0.20766	0.605	0.80722	D	1	B	0.23128	0.08	B	0.27887	0.084	T	0.72171	-0.4371	10	0.40728	T	0.16	-35.6846	7.2091	0.25923	0.0:0.2198:0.0:0.7802	.	334	Q16549	PCSK7_HUMAN	S	334	ENSP00000325917:N334S	ENSP00000325917:N334S	N	-	2	0	PCSK7	116600057	0.907000	0.30839	1.000000	0.80357	0.912000	0.54170	1.387000	0.34430	2.120000	0.65058	0.533000	0.62120	AAC		0.547	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	NM_004716		4	56	0	0	0	1	0	4	56					C	117094847	T	C	117094847	3	2	344	1	0	0	0	0	1	0	0	0	11605	1725	60	3	1396	3	PCSK7	11	117094847	Missense_Mutation	SNP	T	TCGA-EM-A4FM-01A-11D-A257-08	50468310	117094847	17911669	15	7334											
CBL	867	broad.mit.edu	37	chr11	119077233	119077235	+	In_Frame_Del	DEL	CAC	CAC	-													tgaaggacgccttccagccgCaccaccaccaccaccaccac							TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr11:119077233_119077235delCAC	ENST00000264033.4	+	1	482_484	c.106_108delCAC	c.(106-108)cacdel	p.H42del		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	42	Sufficient for interaction with EPHB1.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CTTCCAGCCGcaccaccaccacc	0.675			"T, Mis S, O"	MLL	"AML, JMML, MDS"				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													ENST00000264033.4				"Dom, Rec"	yes		11	11q23.3	867	"T, Mis S, O"	Cas-Br-M (murine) ecotropic retroviral transforming			L	MLL		"AML, JMML, MDS"		0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251						c.(106-108)del		Cbl proto-oncogene, E3 ubiquitin protein ligase				27,80,3153		5,0,17,5,70,1533						-0.3	1.0			11	13,198,6595		2,0,9,20,158,3214	no	codingComplex	CBL	NM_005188.2		7,0,26,25,228,4747	A1A1,A1A2,A1R,A2A2,A2R,RR		3.1002,3.2822,3.1591				40,278,9748				SO:0001651	inframe_deletion	867	Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119077233_119077235delCAC	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"RING-type (C3HC4) zinc fingers"	1541	protein-coding gene	gene with protein product	"oncogene CBL2"	165360	"Cas-Br-M (murine) ecotropic retroviral transforming sequence"	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.106_108delCAC	11.37:g.119077242_119077244delCAC	ENSP00000264033:p.His42del						p.H42del	NM_005188.3	NP_005179.2	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	1	482_484	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	42					A3KMP8	In_Frame_Del	DEL	ENST00000264033.4	37	c.106_108delCAC	CCDS8418.1																																																																																				0.675	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188		2	4						2	4	---	---	---	---	-	119077235	CAC	-	119077233	7	5	344	1	0	1	0	1	0	0	0	0	2700	710	25	0	108	0	CBL	11	119077233	In_Frame_Del	DEL	CAC	TCGA-EM-A4FM-01A-11D-A257-08	1982386	119077233	15929283	16	7335											
FAM119B	25895	broad.mit.edu	37	chr12	58168511	58168511	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatgctctatccatgtctaCcatgactccctgggaatcca	6	14	2	1			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr12:58168511C>T	ENST00000300209.8	+	2	414				RP11-571M6.15_ENST00000553083.1_Intron|METTL1_ENST00000324871.7_5'Flank|AC025165.1_ENST00000582738.1_RNA|METTL21B_ENST00000552307.1_3'UTR|RP11-571M6.15_ENST00000471530.1_Intron|METTL1_ENST00000548681.1_5'Flank|METTL21B_ENST00000333012.5_Missense_Mutation_p.T130I|METTL21B_ENST00000551420.1_Intron|METTL1_ENST00000257848.7_5'Flank|METTL21B_ENST00000548256.1_Missense_Mutation_p.T88I	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B							cytoplasm (GO:0005737)|intracellular (GO:0005622)	methyltransferase activity (GO:0008168)			endometrium(1)|lung(1)	2						TCCATGTCTACCATGACTCCC	0.547																																						ENST00000333012.5																			0				endometrium(1)|lung(1)	2						c.(388-390)aCc>aTc		methyltransferase like 21B							115	79	91					12																	58168511		2203	4300	6503	SO:0001627	intron_variant	25895					integral to membrane|intracellular	methyltransferase activity	g.chr12:58168511C>T	AL050100, AF455816	CCDS8957.1, CCDS31848.1	12q14.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000123427	ENSG00000123427			24936	protein-coding gene	gene with protein product		615258	"family with sequence similarity 119, member B"	FAM119B		12477932	Standard	NM_015433		Approved	DKFZP586D0919	uc001sqg.3	Q96AZ1	OTTHUMG00000170459	ENST00000300209.8:c.289+1600C>T	12.37:g.58168511C>T						METTL21B_ENST00000300209.8_Intron|METTL21B_ENST00000552307.1_3'UTR|METTL21B_ENST00000551420.1_Intron|METTL21B_ENST00000548256.1_Missense_Mutation_p.T88I|RP11-571M6.15_ENST00000553083.1_Intron|RP11-571M6.15_ENST00000471530.1_Intron	p.T130I	NM_206914.1	NP_996797.1	Q96AZ1	MT21B_HUMAN			3	436	+			0					Q9H749|Q9Y3W2	Missense_Mutation	SNP	ENST00000300209.8	37	c.389C>T	CCDS8957.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.065663	0.36470	.	.	ENSG00000123427	ENST00000548256;ENST00000333012	T	0.24151	1.87	3.17	1.33	0.21861	.	.	.	.	.	T	0.16642	0.0400	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.22417	-1.0217	8	0.51188	T	0.08	.	5.3521	0.16042	0.0:0.7305:0.0:0.2695	.	130	Q96AZ1-2	.	I	88;130	ENSP00000327425:T130I	ENSP00000327425:T130I	T	+	2	0	METTL21B	56454778	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.337000	0.19841	0.368000	0.24481	-0.379000	0.06801	ACC		0.547	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409268.1	NM_015433		4	13	0	0	0	1	0	4	13					T	58168511	C	T	58168511	1	4	344	0	1	0	0	0	0	0	0	0	5414	507	18	2		2	FAM119B	12	58168511	Intron	SNP	C	TCGA-EM-A4FM-01A-11D-A257-08		58168511	75683384	17	7336											
CEP152	22995	broad.mit.edu	37	chr15	49081163	49081163	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctgctgcttcaagctttcCagagccatttcagttgttct	8	11	3	1			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr15:49081163C>A	ENST00000380950.2	-	9	1195	c.1008G>T	c.(1006-1008)ctG>ctT	p.L336L	CEP152_ENST00000325747.5_Silent_p.L243L|CEP152_ENST00000399334.3_Silent_p.L336L	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	336					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TCAAGCTTTCCAGAGCCATTT	0.413																																						ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(1006-1008)ctG>ctT		centrosomal protein 152kDa							140	127	131					15																	49081163		1907	4126	6033	SO:0001819	synonymous_variant	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49081163C>A	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1008G>T	15.37:g.49081163C>A						CEP152_ENST00000399334.3_Silent_p.L336L|CEP152_ENST00000325747.5_Silent_p.L243L	p.L336L	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	9	1195	-		all_lung(180;0.0428)	336					E7ER66|Q17RV1|Q6NTA0	Silent	SNP	ENST00000380950.2	37	c.1008G>T	CCDS58361.1																																																																																				0.413	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		33	62	1	0	6.00712e-18	1	6.25742e-18	33	62					A	49081163	C	A	49081163	2	1	344	1	0	0	0	0	0	0	0	1	3248	581	21	4		4	CEP152	15	49081163	Silent	SNP	C	TCGA-EM-A4FM-01A-11D-A257-08		49081163	53450229	18	7337											
SETD1A	9739	broad.mit.edu	37	chr16	30991489	30991489	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcggggctgactggctcaAcgacactcactgggtccatc	12	13	2	1			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr16:30991489A>G	ENST00000262519.8	+	14	5068	c.4382A>G	c.(4381-4383)aAc>aGc	p.N1461S		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1461	Interaction with ASH2L, RBBP5 and WDR5.				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						GACTGGCTCAACGACACTCAC	0.612																																						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.(4381-4383)aAc>aGc		SET domain containing 1A							39	43	41					16																	30991489		2197	4300	6497	SO:0001583	missense	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.chr16:30991489A>G	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.4382A>G	16.37:g.30991489A>G	ENSP00000262519:p.Asn1461Ser						p.N1461S	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			14	5068	+			1461			Interaction with ASH2L, RBBP5 and WDR5.		A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.4382A>G	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	A	12.68	2.009901	0.35415	.	.	ENSG00000099381	ENST00000262519	D	0.95447	-3.71	4.08	4.08	0.47627	COMPASS complex Set1 subunit, N-SET domain (1);	0.116424	0.53938	D	0.000041	D	0.94235	0.8149	M	0.66939	2.045	0.58432	D	0.999997	P	0.35328	0.495	B	0.38616	0.277	D	0.93907	0.7193	10	0.52906	T	0.07	.	12.1659	0.54129	1.0:0.0:0.0:0.0	.	1461	O15047	SET1A_HUMAN	S	1461	ENSP00000262519:N1461S	ENSP00000262519:N1461S	N	+	2	0	SETD1A	30898990	1.000000	0.71417	0.078000	0.20375	0.905000	0.53344	9.017000	0.93651	1.713000	0.51359	0.379000	0.24179	AAC		0.612	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		9	18	0	0	0	1	0	9	18					G	30991489	A	G	30991489	3	3	344	1	0	0	0	0	1	0	0	0	14130	43	2	3	4432	3	SETD1A	16	30991489	Missense_Mutation	SNP	A	TCGA-EM-A4FM-01A-11D-A257-08		30991489	59363264	19	7338											
CDYL2	124359	broad.mit.edu	37	chr16	80638351	80638351	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aggcctttggaggagctccaGagctgcttgagcatgaggca	15	9	0	3			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr16:80638351G>C	ENST00000570137.2	-	7	1610	c.1455C>G	c.(1453-1455)ctC>ctG	p.L485L	CDYL2_ENST00000566173.1_Silent_p.L486L|CDYL2_ENST00000563890.1_Silent_p.L486L|CDYL2_ENST00000562812.1_Silent_p.L486L	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	485						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						AGGAGCTCCAGAGCTGCTTGA	0.547																																						ENST00000299564.8																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						c.(1453-1455)ctC>ctG		chromodomain protein, Y-like 2							133	126	128					16																	80638351		2203	4300	6503	SO:0001819	synonymous_variant	124359					nucleus	catalytic activity|protein binding	g.chr16:80638351G>C	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"chromodomain Y-like protein 2"			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.1455C>G	16.37:g.80638351G>C						CDYL2_ENST00000562812.1_Silent_p.L486L|CDYL2_ENST00000566173.1_Silent_p.L486L|CDYL2_ENST00000563890.1_Silent_p.L486L	p.L485L	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN			7	1610	-			485					Q7Z5I8	Silent	SNP	ENST00000570137.2	37	c.1455C>G	CCDS32493.1																																																																																				0.547	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342		38	85	0	0	0	1	0	38	85					C	80638351	G	C	80638351	2	2	344	1	0	0	0	0	0	0	0	1	3186	929	33	4		4	CDYL2	16	80638351	Silent	SNP	G	TCGA-EM-A4FM-01A-11D-A257-08	49646862	80638351	9716402	20	7339											
MYH2	4620	broad.mit.edu	37	chr17	10443979	10443979	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctccccttgactgacaaatgGgtaatcatatgggttcgtgg	11	9	1	2	rs138162020		TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr17:10443979G>C	ENST00000245503.5	-	11	1324	c.940C>G	c.(940-942)Cca>Gca	p.P314A	RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Missense_Mutation_p.P314A|MYH2_ENST00000397183.2_Missense_Mutation_p.P314A|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	314	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.P314S(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTGACAAATGGGTAATCATAT	0.363																																						ENST00000245503.5																			1	Substitution - Missense(1)	p.P314S(1)	skin(1)	NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(940-942)Cca>Gca		myosin, heavy chain 2, skeletal muscle, adult							103	94	97					17																	10443979		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10443979G>C		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.940C>G	17.37:g.10443979G>C	ENSP00000245503:p.Pro314Ala					MYH2_ENST00000397183.2_Missense_Mutation_p.P314A|MYH2_ENST00000532183.1_Missense_Mutation_p.P314A|CTC-297N7.7_ENST00000587182.1_RNA	p.P314A	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			11	1324	-			314			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.940C>G	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	5.887	0.347697	0.11126	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	D;D;D	0.85702	-2.02;-2.02;-2.02	5.25	4.27	0.50696	Myosin head, motor domain (2);	0.524332	0.14333	U	0.326202	T	0.73337	0.3574	N	0.16166	0.38	0.35393	D	0.790949	B;B	0.02656	0.0;0.0	B;B	0.13407	0.001;0.009	T	0.68591	-0.5368	10	0.11794	T	0.64	.	14.8469	0.70267	0.0:0.16:0.84:0.0	.	314;314	Q567P6;Q9UKX2	.;MYH2_HUMAN	A	314	ENSP00000433944:P314A;ENSP00000245503:P314A;ENSP00000380367:P314A	ENSP00000245503:P314A	P	-	1	0	MYH2	10384704	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	1.358000	0.34102	1.418000	0.47098	0.650000	0.86243	CCA		0.363	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		8	44	0	0	0	1	0	8	44					C	10443979	G	C	10443979	3	2	344	1	0	0	0	0	1	0	0	0	10035	1232	43	4	5005	4	MYH2	17	10443979	Missense_Mutation	SNP	G	TCGA-EM-A4FM-01A-11D-A257-08		10443979	70751231	21	7340											
CCDC144A	9720	broad.mit.edu	37	chr17	16612219	16612219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaatgtggattgaacaagGcaaattagagtggaaaaacc	12	4	0	2			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr17:16612219G>A	ENST00000360524.8	+	5	924	c.848G>A	c.(847-849)gGc>gAc	p.G283D	RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.G283D|CCDC144A_ENST00000443444.2_Missense_Mutation_p.G283D|CCDC144A_ENST00000340621.5_Missense_Mutation_p.G282D|CCDC144A_ENST00000456009.1_Intron|RN7SL620P_ENST00000580704.1_RNA|CCDC144A_ENST00000399273.1_Missense_Mutation_p.G283D	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	283																	ATTGAACAAGGCAAATTAGAG	0.363																																						ENST00000443444.2																			0											c.(847-849)gGc>gAc		coiled-coil domain containing 144A							23	23	23					17																	16612219		1800	4055	5855	SO:0001583	missense	9720							g.chr17:16612219G>A	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.848G>A	17.37:g.16612219G>A	ENSP00000353717:p.Gly283Asp					CCDC144A_ENST00000399273.1_Missense_Mutation_p.G283D|CCDC144A_ENST00000360524.8_Missense_Mutation_p.G283D|CCDC144A_ENST00000456009.1_Intron|CCDC144A_ENST00000340621.5_Missense_Mutation_p.G282D|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.G283D	p.G283D			A2RUR9	C144A_HUMAN			5	988	+			283					O60311|Q6ZU57	Missense_Mutation	SNP	ENST00000360524.8	37	c.848G>A	CCDS45621.1	.	.	.	.	.	.	.	.	.	.	.	11.92	1.781215	0.31502	.	.	ENSG00000170160	ENST00000340621;ENST00000399273;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000360495	T;T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24;2.24	1.71	0.673	0.17941	.	.	.	.	.	T	0.09642	0.0237	L	0.29908	0.895	0.09310	N	1	B	0.22346	0.068	B	0.13407	0.009	T	0.32428	-0.9907	8	.	.	.	.	3.3939	0.07299	0.4413:0.0:0.5587:0.0	.	283	A2RUR9	C144A_HUMAN	D	282;283;283;283;283;283	ENSP00000344740:G282D;ENSP00000382215:G283D;ENSP00000439262:G283D;ENSP00000440655:G283D;ENSP00000353717:G283D;ENSP00000353685:G283D	.	G	+	2	0	CCDC144A	16552944	0.381000	0.25140	0.093000	0.20910	0.018000	0.09664	1.012000	0.29924	0.970000	0.38263	0.175000	0.17021	GGC		0.363	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			24	32	0	0	0	1	0	24	32					A	16612219	G	A	16612219	3	1	344	1	0	0	0	0	1	0	0	0	2777	1203	42	2	866	2	CCDC144A	17	16612219	Missense_Mutation	SNP	G	TCGA-EM-A4FM-01A-11D-A257-08	6168240	16612219	64582991	22	7341											
TEX2	55852	broad.mit.edu	37	chr17	62265588	62265588	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctcctctgggggcttcgGctttcctgggggacacacct	15	13	1	0			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr17:62265588G>A	ENST00000583097.1	-	5	2536	c.2364C>T	c.(2362-2364)agC>agT	p.S788S	TEX2_ENST00000584379.1_Silent_p.S788S|TEX2_ENST00000258991.3_Silent_p.S795S			Q8IWB9	TEX2_HUMAN	testis expressed 2	788					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GGGGGCTTCGGCTTTCCTGGG	0.602																																						ENST00000258991.3																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2383-2385)agC>agT		testis expressed 2							59	59	59					17																	62265588		2203	4300	6503	SO:0001819	synonymous_variant	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62265588G>A	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"transmembrane protein 96"		"testis expressed sequence 2"			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.2364C>T	17.37:g.62265588G>A						TEX2_ENST00000584379.1_Silent_p.S788S|TEX2_ENST00000583097.1_Silent_p.S788S	p.S795S			Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	5	2469	-			788					Q6AHZ5|Q8N3L0|Q9C0C5	Silent	SNP	ENST00000583097.1	37	c.2385C>T																																																																																					0.602	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		32	51	0	0	0	1	0	32	51					A	62265588	G	A	62265588	2	1	344	1	0	0	0	0	0	0	0	1	15778	1194	42	2		2	TEX2	17	62265588	Silent	SNP	G	TCGA-EM-A4FM-01A-11D-A257-08	45653369	62265588	18929622	23	7342											
RNF213	57674	broad.mit.edu	37	chr17	78343413	78343413	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctgagaaggaagtgatTgagagcctgctctctctcct	11	12	2	3			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr17:78343413T>C	ENST00000582970.1	+	45	12410	c.12267T>C	c.(12265-12267)atT>atC	p.I4089I	CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Silent_p.I4138I|RNF213_ENST00000336301.6_Silent_p.I2162I|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4089					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)			AGGAAGTGATTGAGAGCCTGC	0.517																																						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.(12265-12267)atT>atC		ring finger protein 213							98	91	93					17																	78343413		2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78343413T>C	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.12267T>C	17.37:g.78343413T>C						RNF213_ENST00000336301.6_Silent_p.I2162I|RNF213_ENST00000508628.2_Silent_p.I4138I|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA	p.I4089I	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		45	12410	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.12267T>C	CCDS58606.1																																																																																				0.517	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		31	57	0	0	0	1	0	31	57					C	78343413	T	C	78343413	2	2	344	1	0	0	0	0	0	0	0	1	13477	1800	63	3		3	RNF213	17	78343413	Silent	SNP	T	TCGA-EM-A4FM-01A-11D-A257-08	16077825	78343413	2851797	24	7343											
SHANK1	50944	broad.mit.edu	37	chr19	51189611	51189611	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccaggatttcgtccagtttGtctaggggtagatgaatgaa	13	6	1	3			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr19:51189611G>T	ENST00000293441.1	-	20	2478	c.2460C>A	c.(2458-2460)aaC>aaA	p.N820K	SHANK1_ENST00000391814.1_Splice_Site_p.N828K|SHANK1_ENST00000391813.1_Splice_Site_p.N207K|SHANK1_ENST00000359082.3_Splice_Site_p.N811K	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	820					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)		CGTCCAGTTTGTCTAGGGGTA	0.572																																						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.e20-1		SH3 and multiple ankyrin repeat domains 1							109	95	100					19																	51189611		2203	4300	6503	SO:0001630	splice_region_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51189611G>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.2459-1C>A	19.37:g.51189611G>T						SHANK1_ENST00000359082.3_Splice_Site_p.N811_splice|SHANK1_ENST00000391814.1_Splice_Site_p.N828_splice|SHANK1_ENST00000391813.1_Splice_Site_p.N207_splice	p.N820_splice	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	20	2478	-		all_neural(266;0.057)	820					A8MXP5|B7WNY6|Q9NYW9	Splice_Site	SNP	ENST00000293441.1	37	c.2458_splice	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.782614	0.31502	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	3.91	3.91	0.45181	.	0.427573	0.19891	U	0.103735	T	0.42359	0.1199	L	0.38531	1.155	0.45076	D	0.998092	D;P	0.59357	0.985;0.955	P;P	0.53518	0.728;0.636	T	0.22521	-1.0214	10	0.46703	T	0.11	.	9.1034	0.36683	0.1047:0.0:0.8953:0.0	.	820;207	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	K	820;207;811;828	ENSP00000293441:N820K;ENSP00000375689:N207K;ENSP00000351984:N811K;ENSP00000375690:N828K	ENSP00000293441:N820K	N	-	3	2	SHANK1	55881423	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.044000	0.57361	2.211000	0.71520	0.478000	0.44815	AAC		0.572	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148	Missense_Mutation	21	47	1	0	2.98393e-07	1	3.04483e-07	21	47					T	51189611	G	T	51189611	5	4	344	1	0	0	0	0	0	0	1	0	14264	1391	48	4	4041	4	SHANK1	19	51189611	Splice_Site	SNP	G	TCGA-EM-A4FM-01A-11D-A257-08		51189611	7939372	25	7344											
TRAPPC10	7109	broad.mit.edu	37	chr21	45507741	45507741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagtgacatgctggggatgGcagagccccacaggaagcat	15	9	0	3			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr21:45507741G>A	ENST00000291574.4	+	17	2876	c.2701G>A	c.(2701-2703)Gca>Aca	p.A901T		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	901					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GCTGGGGATGGCAGAGCCCCA	0.547																																						ENST00000291574.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.(2701-2703)Gca>Aca		trafficking protein particle complex 10							104	88	93					21																	45507741		2203	4300	6503	SO:0001583	missense	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45507741G>A	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"Trafficking protein particle complex"	11868	protein-coding gene	gene with protein product	"trafficking protein particle complex subunit 130", "TRAPP 130 kDa subunit"	602103	"transmembrane protein 1"	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.2701G>A	21.37:g.45507741G>A	ENSP00000291574:p.Ala901Thr						p.A901T	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN			17	2876	+			901					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	c.2701G>A	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	G	6.870	0.529853	0.13127	.	.	ENSG00000160218	ENST00000291574;ENST00000542855	T	0.21932	1.98	4.9	0.256	0.15567	.	0.589854	0.18577	N	0.137145	T	0.06690	0.0171	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.38735	-0.9647	10	0.13108	T	0.6	.	5.3374	0.15965	0.4948:0.2188:0.2864:0.0	.	160;901	B4DI17;P48553	.;TPC10_HUMAN	T	901;32	ENSP00000291574:A901T	ENSP00000291574:A901T	A	+	1	0	TRAPPC10	44332169	0.784000	0.28713	0.000000	0.03702	0.860000	0.49131	1.702000	0.37836	-0.180000	0.10637	-0.256000	0.11100	GCA		0.547	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		3	33	0	0	0	1	0	3	33					A	45507741	G	A	45507741	3	1	344	1	0	0	0	0	1	0	0	0	16454	1203	42	2	2767	2	TRAPPC10	21	45507741	Missense_Mutation	SNP	G	TCGA-EM-A4FM-01A-11D-A257-08		45507741	2622154	26	7345											
TRPM2	7226	broad.mit.edu	37	chr21	45837906	45837906	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggccgccccgccgcgccGccccccttcatcctcctcag	8	25	2	0	rs376722041		TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr21:45837906G>A	ENST00000397928.1	+	21	3688	c.3243G>A	c.(3241-3243)ccG>ccA	p.P1081P	TRPM2_ENST00000300481.9_Silent_p.P1061P|AP001065.2_ENST00000423310.1_RNA|AP001065.2_ENST00000456880.1_RNA|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Silent_p.P1081P|TRPM2_ENST00000300482.5_Silent_p.P1081P	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1081					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						ccgccgcgccgccccccTTCA	0.627																																						ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(3241-3243)ccG>ccA		transient receptor potential cation channel, subfamily M, member 2		A		1,4405	2.1+/-5.4	0,1,2202	51	52	52		3243	-8.7	0.1	21		52	0,8600		0,0,4300	no	coding-synonymous	TRPM2	NM_003307.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1081/1504	45837906	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45837906G>A	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.3243G>A	21.37:g.45837906G>A						TRPM2_ENST00000397932.2_Silent_p.P1081P|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Silent_p.P1081P|TRPM2_ENST00000300481.9_Silent_p.P1061P	p.P1081P	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			21	3688	+			1081					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	ENST00000397928.1	37	c.3243G>A	CCDS13710.1																																																																																				0.627	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		23	45	0	0	0	1	0	23	45					A	45837906	G	A	45837906	2	1	344	1	0	0	0	0	0	0	0	1	16583	1074	38	1		1	TRPM2	21	45837906	Silent	SNP	G	TCGA-EM-A4FM-01A-11D-A257-08	330165	45837906	2291989	27	7346											
PCNT	5116	broad.mit.edu	37	chr21	47855938	47855938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccacctaggttctgcccGcagggctgccggctcggatg	13	16	1	0	rs574728262	byFrequency	TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr21:47855938G>A	ENST00000359568.5	+	39	8980	c.8873G>A	c.(8872-8874)cGc>cAc	p.R2958H	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2958					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGTTCTGCCCGCAGGGCTGCC	0.652													G|||	2	0.000399361	0	0	5008	,	,		14491	0		0	False		,,,				2504	0.002					ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(8872-8874)cGc>cAc		pericentrin							58	65	63					21																	47855938		2202	4300	6502	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47855938G>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.8873G>A	21.37:g.47855938G>A	ENSP00000352572:p.Arg2958His					PCNT_ENST00000480896.1_3'UTR	p.R2958H	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			39	8980	+	Breast(49;0.112)		2958					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.8873G>A	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	5.333	0.246785	0.10130	.	.	ENSG00000160299	ENST00000359568	T	0.01527	4.8	4.33	1.51	0.23008	.	.	.	.	.	T	0.01156	0.0038	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.49194	-0.8965	9	0.30854	T	0.27	.	7.5154	0.27598	0.2763:0.0:0.7237:0.0	.	2761;2958	O95613-2;O95613	.;PCNT_HUMAN	H	2958	ENSP00000352572:R2958H	ENSP00000352572:R2958H	R	+	2	0	PCNT	46680366	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.977000	0.01495	-0.008000	0.14320	-0.444000	0.05651	CGC		0.652	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		5	106	0	0	0	1	0	5	106					A	47855938	G	A	47855938	3	1	344	1	0	0	0	0	1	0	0	0	11590	1087	38	1	9027	1	PCNT	21	47855938	Missense_Mutation	SNP	G	TCGA-EM-A4FM-01A-11D-A257-08	2018032	47855938	273957	28	7347											
DCAF8L1	139425	broad.mit.edu	37	chrX	27998790	27998790	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccgcacccagtcccacactAtcacccttaagtcatcaccg	5	19	3	0			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chrX:27998790A>G	ENST00000441525.1	-	1	776	c.662T>C	c.(661-663)aTa>aCa	p.I221T		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	221										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GTCCCACACTATCACCCTTAA	0.502																																						ENST00000441525.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						c.(661-663)aTa>aCa		DDB1 and CUL4 associated factor 8-like 1							48	39	42					X																	27998790		2202	4300	6502	SO:0001583	missense	139425							g.chrX:27998790A>G		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"WD repeat domain containing"	31810	protein-coding gene	gene with protein product			"WD repeat domain 42B"	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.662T>C	X.37:g.27998790A>G	ENSP00000405222:p.Ile221Thr						p.I221T	NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN			1	776	-			221					B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	37	c.662T>C	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	A	10.25	1.298201	0.23650	.	.	ENSG00000226372	ENST00000441525	T	0.60040	0.22	0.842	-0.79	0.10932	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.372367	0.24085	N	0.041692	T	0.46073	0.1374	M	0.72894	2.215	0.28712	N	0.903508	B	0.16166	0.016	B	0.21360	0.034	T	0.35475	-0.9787	10	0.13853	T	0.58	-2.4346	4.7526	0.13068	0.6829:0.3171:0.0:0.0	.	221	A6NGE4	DC8L1_HUMAN	T	221	ENSP00000405222:I221T	ENSP00000405222:I221T	I	-	2	0	DCAF8L1	27908711	1.000000	0.71417	0.544000	0.28141	0.457000	0.32468	2.720000	0.47252	-0.292000	0.08999	-1.042000	0.02369	ATA		0.502	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		10	39	0	0	0	1	0	10	39					G	27998790	A	G	27998790	3	3	344	1	0	0	0	0	1	0	0	0	4277	449	16	3	1144	3	DCAF8L1	23	27998790	Missense_Mutation	SNP	A	TCGA-EM-A4FM-01A-11D-A257-08		27998790	127271770	29	7348											
USP9X	8239	broad.mit.edu	37	chrX	41058005	41058005	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attggcacagcaataactagTaagtatttttaatagaatgt	7	4	0	1			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chrX:41058005T>C	ENST00000324545.8	+	30	5236		c.e30+2		USP9X_ENST00000378308.2_Splice_Site	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CAATAACTAGTAAGTATTTTT	0.294																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.e30+2		ubiquitin specific peptidase 9, X-linked							30	29	29					X																	41058005		2117	4241	6358	SO:0001630	splice_region_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41058005T>C	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.4603+2T>C	X.37:g.41058005T>C						USP9X_ENST00000378308.2_Splice_Site		NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			30	5236	+								O75550|Q8WWT3|Q8WX12	Splice_Site	SNP	ENST00000324545.8	37		CCDS43930.1	.	.	.	.	.	.	.	.	.	.	T	16.69	3.193640	0.58017	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8864	0.63710	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	USP9X	40942949	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.077000	0.57598	1.724000	0.51502	0.441000	0.28932	.		0.294	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652	Intron	10	16	0	0	0	1	0	10	16					C	41058005	T	C	41058005	5	2	344	1	0	0	0	0	0	0	1	0	17087	1652	57	3	4719	3	USP9X	23	41058005	Splice_Site	SNP	T	TCGA-EM-A4FM-01A-11D-A257-08	13059215	41058005	114212555	30	7349											
IL2RG	3561	broad.mit.edu	37	chrX	70327615	70327615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctttagggtgtaacatgGgggggcccagtaggggctat	18	6	0	0			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chrX:70327615G>A	ENST00000374202.2	-	8	1172	c.1081C>T	c.(1081-1083)Cca>Tca	p.P361S	IL2RG_ENST00000374188.3_Missense_Mutation_p.P90S|CXorf65_ENST00000374251.5_5'Flank|IL2RG_ENST00000456850.2_Missense_Mutation_p.P171S	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	361					immune response (GO:0006955)|interleukin-2-mediated signaling pathway (GO:0038110)|interleukin-4-mediated signaling pathway (GO:0035771)|interleukin-7-mediated signaling pathway (GO:0038111)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|interleukin-2 binding (GO:0019976)			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	GTGTAACATGGGGGGGCCCAG	0.577									Severe Combined Immunodeficiency, X-linked																													ENST00000374202.2																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15						c.(1081-1083)Cca>Tca		interleukin 2 receptor, gamma	Aldesleukin(DB00041)|Denileukin diftitox(DB00004)						33	33	33					X																	70327615		2203	4293	6496	SO:0001583	missense	3561	Severe Combined Immunodeficiency, X-linked	Familial Cancer Database	Agammaglobulinemia, Swiss Type	immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding	g.chrX:70327615G>A	D11086	CCDS14406.1	Xq13	2014-09-17	2010-06-24		ENSG00000147168	ENSG00000147168		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6010	protein-coding gene	gene with protein product		308380	"severe combined immunodeficiency", "combined immunodeficiency, X-linked"	SCIDX1, IMD4, CIDX		1631559, 7883965	Standard	NM_000206		Approved	CD132	uc004dyw.2	P31785	OTTHUMG00000021787	ENST00000374202.2:c.1081C>T	X.37:g.70327615G>A	ENSP00000363318:p.Pro361Ser					IL2RG_ENST00000374188.3_Missense_Mutation_p.P90S|IL2RG_ENST00000456850.2_Missense_Mutation_p.P171S	p.P361S	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN			8	1172	-	Renal(35;0.156)		361					Q5FC12	Missense_Mutation	SNP	ENST00000374202.2	37	c.1081C>T	CCDS14406.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.445107	0.43429	.	.	ENSG00000147168	ENST00000374202;ENST00000456850;ENST00000374188	D;D;D	0.98937	-4.63;-5.25;-2.24	4.24	4.24	0.50183	.	1.453280	0.04433	N	0.369596	D	0.98912	0.9631	L	0.57536	1.79	0.27396	N	0.954998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.992;0.996	D	0.93950	0.7231	10	0.87932	D	0	-8.7593	10.933	0.47228	0.0:0.0:1.0:0.0	.	171;361;90	Q5FC12;P31785;Q5FC10	.;IL2RG_HUMAN;.	S	361;171;90	ENSP00000363318:P361S;ENSP00000388967:P171S;ENSP00000363303:P90S	ENSP00000363303:P90S	P	-	1	0	IL2RG	70244340	0.998000	0.40836	0.612000	0.29024	0.115000	0.19883	4.322000	0.59215	1.948000	0.56530	0.417000	0.27973	CCA		0.577	IL2RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057102.2			9	19	0	0	0	1	0	9	19					A	70327615	G	A	70327615	3	1	344	1	0	0	0	0	1	0	0	0	7688	1232	43	2	32	2	IL2RG	23	70327615	Missense_Mutation	SNP	G	TCGA-EM-A4FM-01A-11D-A257-08	29269610	70327615	84942945	31	7350											
MAGEA11	4110	broad.mit.edu	37	chrX	148798323	148798323	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggggtccaagggcccacgctGagaccagcaagatgaaagtt	14	10	0	3			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chrX:148798323G>A	ENST00000355220.5	+	5	1279	c.1177G>A	c.(1177-1179)Gag>Aag	p.E393K	MAGEA11_ENST00000333104.4_Missense_Mutation_p.E364K	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	393	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGCCCACGCTGAGACCAGCAA	0.532																																						ENST00000355220.5																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9						c.(1177-1179)Gag>Aag		melanoma antigen family A, 11							156	132	140					X																	148798323		2203	4300	6503	SO:0001583	missense	4110					cytoplasm|nucleus	protein binding	g.chrX:148798323G>A		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"MAGE-11 antigen", "melanoma-associated antigen 11", "cancer/testis antigen family 1, member 11"	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.1177G>A	X.37:g.148798323G>A	ENSP00000347358:p.Glu393Lys					MAGEA11_ENST00000333104.4_Missense_Mutation_p.E364K	p.E393K	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN			5	1279	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		393			MAGE.		Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	ENST00000355220.5	37	c.1177G>A	CCDS48180.1	.	.	.	.	.	.	.	.	.	.	N	16.87	3.242963	0.58995	.	.	ENSG00000185247	ENST00000333104;ENST00000355220	T;T	0.25912	1.77;1.77	0.976	0.976	0.19727	.	.	.	.	.	T	0.56499	0.1989	H	0.95437	3.67	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.40117	-0.9580	8	.	.	.	.	4.9662	0.14091	0.0:0.0:1.0:0.0	.	364;393	G5E962;P43364	.;MAGAB_HUMAN	K	364;393	ENSP00000328177:E364K;ENSP00000347358:E393K	.	E	+	1	0	MAGEA11	148576082	0.197000	0.23362	0.075000	0.20258	0.633000	0.38033	2.153000	0.42282	0.761000	0.33130	0.429000	0.28392	GAG		0.532	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		81	146	0	0	0	1	0	81	146					A	148798323	G	A	148798323	3	1	344	1	0	0	0	0	1	0	0	0	9165	1291	45	2	1204	2	MAGEA11	23	148798323	Missense_Mutation	SNP	G	TCGA-EM-A4FM-01A-11D-A257-08	78470708	148798323	6472237	32	7351											
HNRNPCL1	343069	broad.mit.edu	37	chr1	12907980	12907980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctccttatcatattgaaCgaaggcaaagcccttatgaa	6	9	2	2	rs374398056		TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr1:12907980C>T	ENST00000317869.6	-	2	388	c.163G>A	c.(163-165)Gtt>Att	p.V55I		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	55	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V55I(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TCATATTGAACGAAGGCAAAG	0.473																																						ENST00000317869.6																			1	Substitution - Missense(1)	p.V55I(1)	NS(1)	NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						c.(163-165)Gtt>Att		heterogeneous nuclear ribonucleoprotein C-like 1		C	ILE/VAL	4,4402	2.1+/-5.4	0,4,2199	76	76	76		163	1.1	0.3	1		76	1,8593	1.2+/-3.3	0,1,4296	no	missense	HNRNPCL1	NM_001013631.1	29	0,5,6495	TT,TC,CC		0.0116,0.0908,0.0385	possibly-damaging	55/294	12907980	5,12995	2203	4297	6500	SO:0001583	missense	343069							g.chr1:12907980C>T	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"RNA binding motif (RRM) containing"	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.163G>A	1.37:g.12907980C>T	ENSP00000365370:p.Val55Ile						p.V55I	NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1					2	388	-								B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	c.163G>A	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902710	0.33628	9.08E-4	1.16E-4	ENSG00000179172	ENST00000317869	T	0.32515	1.45	1.09	1.09	0.20402	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	U	0.000018	T	0.25344	0.0616	L	0.48174	1.505	0.49213	D	0.999764	B	0.25272	0.122	B	0.31191	0.125	T	0.09314	-1.0680	10	0.44086	T	0.13	.	8.1133	0.30928	0.0:1.0:0.0:0.0	.	55	O60812	HNRCL_HUMAN	I	55	ENSP00000365370:V55I	ENSP00000365370:V55I	V	-	1	0	HNRNPCL1	12830567	1.000000	0.71417	0.256000	0.24389	0.080000	0.17528	5.250000	0.65432	0.916000	0.36871	0.416000	0.27883	GTT		0.473	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		23	147	0	0	0	1	0	23	147					T	12907980	C	T	12907980	3	4	345	1	0	0	0	0	1	0	0	0	7263	536	19	1	720	1	HNRNPCL1	1	12907980	Missense_Mutation	SNP	C	TCGA-EM-A4FN-01A-11D-A257-08		12907980	236342641	1	7352											
AKR7L	246181	broad.mit.edu	37	chr1	19596156	19596156	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccgtttccacctgccgggtGgtggcgctgtacatgccctg	13	14	0	0	rs6665756	byFrequency	TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr1:19596156G>T	ENST00000429712.1	-	0	644				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CCTGCCGGGTGGTGGCGCTGT	0.562													.|||	3335	0.665935	0.3986	0.7349	5008	,	,		17408	0.8016		0.6918	False		,,,				2504	0.8119					ENST00000420396.2																			0				breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6								aldo-keto reductase family 7-like		G		604,780		133,338,221	79	79	79			3.9	1.0	1	dbSNP_116	79	2111,1071		724,663,204	no	intergenic				857,1001,425	TT,TG,GG		33.6581,43.6416,40.5388			19596156	2715,1851	692	1591	2283			246181							g.chr1:19596156G>T			1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19596156G>T						AKR7L_ENST00000429712.1_RNA								0	507	-								Q5U614	RNA	SNP	ENST00000429712.1	37																																																																																						0.562	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		3	40	1	0	0.004672	1	0.00483886	3	40					T	19596156	G	T	19596156	1	4	345	0	1	0	0	0	0	0	0	0	477	1335	47	4		4	AKR7L	1	19596156	RNA	SNP	G	TCGA-EM-A4FN-01A-11D-A257-08	6688176	19596156	229654465	2	7353											
TRIM11	81559	broad.mit.edu	37	chr1	228588714	228588714	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agcggccctcgagctcggcgAtgagctcagctaggtgggcg	17	12	1	1			TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr1:228588714A>T	ENST00000284551.6	-	3	964	c.686T>A	c.(685-687)aTc>aAc	p.I229N	TRIM11_ENST00000366699.3_Missense_Mutation_p.I229N|TRIM11_ENST00000460651.1_5'UTR|TRIM11_ENST00000493030.2_Missense_Mutation_p.I104N	NM_145214.2	NP_660215.1	Q96F44	TRI11_HUMAN	tripartite motif containing 11	229					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of neurogenesis (GO:0050768)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of viral entry into host cell (GO:0046598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				GAGCTCGGCGATGAGCTCAGC	0.721																																						ENST00000493030.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18						c.(310-312)aTc>aAc		tripartite motif containing 11							10	12	11					1																	228588714		2190	4280	6470	SO:0001583	missense	81559				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr1:228588714A>T	AF220125	CCDS31048.1	1q42.13	2013-01-09	2011-01-25		ENSG00000154370	ENSG00000154370		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16281	protein-coding gene	gene with protein product		607868	"tripartite motif-containing 11"			11331580	Standard	NM_145214		Approved	RNF92, BIA1	uc001hss.3	Q96F44	OTTHUMG00000039773	ENST00000284551.6:c.686T>A	1.37:g.228588714A>T	ENSP00000284551:p.Ile229Asn					TRIM11_ENST00000366699.3_Missense_Mutation_p.I229N|TRIM11_ENST00000460651.1_5'UTR|TRIM11_ENST00000284551.6_Missense_Mutation_p.I229N	p.I104N			Q96F44	TRI11_HUMAN			2	4020	-		Prostate(94;0.0724)	229					A6NKE2|B2RB82|B3KUS3|B4DX88|Q5VSU1|Q8NCA6|Q9C022	Missense_Mutation	SNP	ENST00000284551.6	37	c.311T>A	CCDS31048.1	.	.	.	.	.	.	.	.	.	.	a	16.28	3.077397	0.55753	.	.	ENSG00000154370	ENST00000284551;ENST00000366699	T;T	0.04706	3.57;3.57	4.98	2.66	0.31614	.	0.717946	0.12028	N	0.506221	T	0.22781	0.0550	M	0.92604	3.325	0.09310	N	1	P;D;B	0.60160	0.71;0.987;0.275	P;P;B	0.62089	0.724;0.898;0.118	T	0.07693	-1.0759	10	0.87932	D	0	.	6.8206	0.23855	0.7275:0.0:0.2725:0.0	.	228;229;229	Q96F44-3;Q96F44-2;Q96F44	.;.;TRI11_HUMAN	N	229	ENSP00000284551:I229N;ENSP00000355660:I229N	ENSP00000284551:I229N	I	-	2	0	TRIM11	226655337	0.229000	0.23729	0.000000	0.03702	0.171000	0.22731	3.013000	0.49582	0.346000	0.23899	0.375000	0.23000	ATC		0.721	TRIM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095995.3	NM_145214		7	9	0	0	0	1	0	7	9					T	228588714	A	T	228588714	3	4	345	1	0	0	0	0	1	0	0	0	16484	333	12	5	736	5	TRIM11	1	228588714	Missense_Mutation	SNP	A	TCGA-EM-A4FN-01A-11D-A257-08	208992558	228588714	20661907	3	7354											
TPO	7173	broad.mit.edu	37	chr2	1497756	1497756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccagggctcggacagggCccctgtttgcctgtctcatt	11	15	1	0			TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr2:1497756C>T	ENST00000345913.4	+	11	2042	c.1951C>T	c.(1951-1953)Ccc>Tcc	p.P651S	TPO_ENST00000382198.1_Missense_Mutation_p.P478S|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000349624.3_Missense_Mutation_p.P478S|TPO_ENST00000346956.3_Missense_Mutation_p.P651S|TPO_ENST00000329066.4_Missense_Mutation_p.P651S|TPO_ENST00000382201.3_Missense_Mutation_p.P594S|TPO_ENST00000337415.3_Missense_Mutation_p.P651S	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	651					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TCGGACAGGGCCCCTGTTTGC	0.567																																						ENST00000345913.4																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(1951-1953)Ccc>Tcc		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						78	77	77					2																	1497756		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1497756C>T		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1951C>T	2.37:g.1497756C>T	ENSP00000318820:p.Pro651Ser					TPO_ENST00000382198.1_Missense_Mutation_p.P478S|TPO_ENST00000382201.3_Missense_Mutation_p.P594S|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000349624.3_Missense_Mutation_p.P478S|TPO_ENST00000346956.3_Missense_Mutation_p.P651S|TPO_ENST00000337415.3_Missense_Mutation_p.P651S|TPO_ENST00000329066.4_Missense_Mutation_p.P651S	p.P651S	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	11	2042	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	651					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.1951C>T	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395536	0.62066	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607	T;T;T;T;T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55	4.84	4.84	0.62591	.	0.047074	0.85682	D	0.000000	D	0.85427	0.5694	M	0.83312	2.635	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.995;0.995;0.995;0.997	D	0.86752	0.1961	10	0.51188	T	0.08	-43.013	18.3104	0.90197	0.0:1.0:0.0:0.0	.	651;478;594;651	P07202-4;P07202-5;P07202-2;P07202	.;.;.;PERT_HUMAN	S	651;651;651;478;651;594;478;580;125	ENSP00000337263:P651S;ENSP00000318820:P651S;ENSP00000263886:P651S;ENSP00000332044:P478S;ENSP00000329869:P651S;ENSP00000371636:P594S;ENSP00000371633:P478S;ENSP00000405788:P580S;ENSP00000419461:P125S	ENSP00000329869:P651S	P	+	1	0	TPO	1476763	0.998000	0.40836	0.417000	0.26559	0.168000	0.22595	5.360000	0.66086	2.399000	0.81585	0.561000	0.74099	CCC		0.567	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		16	26	0	0	0	1	0	16	26					T	1497756	C	T	1497756	3	4	345	1	0	0	0	0	1	0	0	0	16407	739	26	2	1989	2	TPO	2	1497756	Missense_Mutation	SNP	C	TCGA-EM-A4FN-01A-11D-A257-08		1497756	241701617	4	7355											
TTN	7273	broad.mit.edu	37	chr2	179611913	179611913	+	Intron	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctgggggtgtggagtatcTctctagagtctctcctggag	14	9	3	1			TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr2:179611913T>G	ENST00000591111.1	-	46	10585				TTN_ENST00000360870.5_Silent_p.R5072R|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin						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)			GTGGAGTATCTCTCTAGAGTC	0.532																																						ENST00000360870.5																			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.(15214-15216)Aga>Cga		titin							71	75	74					2																	179611913		2203	4300	6503	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179611913T>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.10361-5265A>C	2.37:g.179611913T>G						TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron	p.R5072R	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	15436	-			1179			Ig-like 31.		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.15214A>C																																																																																					0.532	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	79	0	0	0	1	0	4	79					G	179611913	T	G	179611913	1	3	345	0	1	0	0	0	0	0	0	0	16732	1559	54	5		5	TTN	2	179611913	Intron	SNP	T	TCGA-EM-A4FN-01A-11D-A257-08	178114157	179611913	63587460	5	7356											
AGFG1	3267	broad.mit.edu	37	chr2	228399693	228399693	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actagacagcgttttcagttCtgcagccacctccagtaatg	8	12	2	1			TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr2:228399693C>A	ENST00000310078.8	+	8	1417	c.1157C>A	c.(1156-1158)tCt>tAt	p.S386Y	AGFG1_ENST00000373671.3_Missense_Mutation_p.S346Y|AGFG1_ENST00000409315.1_Missense_Mutation_p.S365Y|AGFG1_ENST00000409979.2_Missense_Mutation_p.S410Y|AGFG1_ENST00000409171.1_Missense_Mutation_p.S386Y	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	386					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of ARF GTPase activity (GO:0032312)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)	ARF GTPase activator activity (GO:0008060)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						GTTTTCAGTTCTGCAGCCACC	0.453																																						ENST00000310078.7																			0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						c.(1156-1158)tCt>tAt		ArfGAP with FG repeats 1							146	132	137					2																	228399693		2203	4300	6503	SO:0001583	missense	3267				cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr2:228399693C>A		CCDS2467.1, CCDS46533.1, CCDS46534.1, CCDS46535.1	2q36	2009-11-30	2008-09-22	2008-09-22	ENSG00000173744	ENSG00000173744		"ADP-ribosylation factor GTPase activating proteins"	5175	protein-coding gene	gene with protein product		600862	"HIV-1 Rev binding protein"	HRB		7637788	Standard	NM_004504		Approved	RIP, RAB	uc002vpd.2	P52594	OTTHUMG00000133186	ENST00000310078.8:c.1157C>A	2.37:g.228399693C>A	ENSP00000312059:p.Ser386Tyr					AGFG1_ENST00000409315.1_Missense_Mutation_p.S365Y|AGFG1_ENST00000409979.2_Missense_Mutation_p.S410Y|AGFG1_ENST00000373671.3_Missense_Mutation_p.S346Y|AGFG1_ENST00000409171.1_Missense_Mutation_p.S386Y	p.S386Y	NM_001135188.1|NM_004504.4	NP_001128660.1|NP_004495.2	P52594	AGFG1_HUMAN			8	1417	+			386					B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Missense_Mutation	SNP	ENST00000310078.8	37	c.1157C>A	CCDS2467.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040366	0.75732	.	.	ENSG00000173744	ENST00000409979;ENST00000542592;ENST00000310078;ENST00000409315;ENST00000373671;ENST00000409171	T;T;T;T;T	0.25579	1.81;1.86;1.81;1.79;1.86	5.69	5.69	0.88448	.	0.114829	0.64402	D	0.000008	T	0.33469	0.0864	N	0.19112	0.55	0.44316	D	0.997196	D;P;D;D	0.61080	0.989;0.924;0.976;0.981	P;P;P;B	0.58172	0.834;0.461;0.556;0.355	T	0.08229	-1.0732	10	0.62326	D	0.03	.	18.005	0.89207	0.0:1.0:0.0:0.0	.	346;386;410;386	P52594-2;P52594-3;E9PHX7;P52594	.;.;.;AGFG1_HUMAN	Y	410;395;386;365;346;386	ENSP00000387282:S410Y;ENSP00000312059:S386Y;ENSP00000387154:S365Y;ENSP00000362775:S346Y;ENSP00000387218:S386Y	ENSP00000312059:S386Y	S	+	2	0	AGFG1	228107937	1.000000	0.71417	0.989000	0.46669	0.970000	0.65996	5.328000	0.65887	2.695000	0.91970	0.650000	0.86243	TCT		0.453	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256895.2	NM_004504		22	47	1	0	4.72057e-08	1	5.26525e-08	22	47					A	228399693	C	A	228399693	3	1	345	1	0	0	0	0	1	0	0	0	380	913	32	4	1263	4	AGFG1	2	228399693	Missense_Mutation	SNP	C	TCGA-EM-A4FN-01A-11D-A257-08	48787780	228399693	14799680	6	7357											
ECEL1	9427	broad.mit.edu	37	chr2	233347145	233347145	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgtgggaagtcagggtcGtacagggtgggctgcaggat	18	7	1	0	rs552489480	byFrequency	TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr2:233347145G>A	ENST00000304546.1	-	12	1989	c.1779C>T	c.(1777-1779)taC>taT	p.Y593Y	ECEL1_ENST00000409941.1_Silent_p.Y591Y	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	593					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		AGTCAGGGTCGTACAGGGTGG	0.617													G|||	3	0.000599042	0	0	5008	,	,		18486	0		0	False		,,,				2504	0.0031					ENST00000304546.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1777-1779)taC>taT		endothelin converting enzyme-like 1							136	136	136					2																	233347145		2203	4300	6503	SO:0001819	synonymous_variant	9427				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity	g.chr2:233347145G>A	Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"damage induced neuronal endopeptidase"	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.1779C>T	2.37:g.233347145G>A						ECEL1_ENST00000409941.1_Silent_p.Y591Y	p.Y593Y	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)	12	1989	-		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	593					Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Silent	SNP	ENST00000304546.1	37	c.1779C>T	CCDS2493.1																																																																																				0.617	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	NM_004826		48	77	0	0	0	1	0	48	77					A	233347145	G	A	233347145	2	1	345	1	0	0	0	0	0	0	0	1	4891	1140	40	1		1	ECEL1	2	233347145	Silent	SNP	G	TCGA-EM-A4FN-01A-11D-A257-08	4947452	233347145	9852228	7	7358											
PASK	23178	broad.mit.edu	37	chr2	242063411	242063411	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcagcggtagagtgggtggAgccgggcaggctggcaagga	21	7	0	1			TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr2:242063411A>G	ENST00000405260.1	-	11	3555	c.2857T>C	c.(2857-2859)Tcc>Ccc	p.S953P	PASK_ENST00000544142.1_Missense_Mutation_p.S767P|PASK_ENST00000539818.1_Missense_Mutation_p.S737P|PASK_ENST00000358649.4_Missense_Mutation_p.S953P|PASK_ENST00000403638.3_Missense_Mutation_p.S953P|PASK_ENST00000234040.4_Missense_Mutation_p.S953P	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	953					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GAGTGGGTGGAGCCGGGCAGG	0.622																																						ENST00000403638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(2857-2859)Tcc>Ccc		PAS domain containing serine/threonine kinase							51	54	53					2																	242063411		2203	4300	6503	SO:0001583	missense	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242063411A>G	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.2857T>C	2.37:g.242063411A>G	ENSP00000384016:p.Ser953Pro					PASK_ENST00000405260.1_Missense_Mutation_p.S953P|PASK_ENST00000544142.1_Missense_Mutation_p.S767P|PASK_ENST00000539818.1_Missense_Mutation_p.S737P|PASK_ENST00000358649.4_Missense_Mutation_p.S953P|PASK_ENST00000234040.4_Missense_Mutation_p.S953P	p.S953P	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	11	2948	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	953					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	c.2857T>C	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	A	17.10	3.304231	0.60305	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638	T;T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.5;-0.53;0.31	4.87	4.87	0.63330	.	0.000000	0.52532	D	0.000074	T	0.81992	0.4940	M	0.72894	2.215	0.40169	D	0.977151	P;P;P;D;P	0.89917	0.881;0.928;0.928;1.0;0.881	P;P;P;D;P	0.85130	0.725;0.752;0.858;0.997;0.725	D	0.84590	0.0666	10	0.87932	D	0	.	12.0086	0.53274	1.0:0.0:0.0:0.0	.	918;767;953;953;953	B7Z7R6;F5GYW7;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;.;PASK_HUMAN	P	953;767;953;953;737;953	ENSP00000234040:S953P;ENSP00000441374:S767P;ENSP00000384016:S953P;ENSP00000351475:S953P;ENSP00000443083:S737P;ENSP00000384438:S953P	ENSP00000234040:S953P	S	-	1	0	PASK	241712084	1.000000	0.71417	0.759000	0.31340	0.304000	0.27724	5.104000	0.64584	1.819000	0.53055	0.454000	0.30748	TCC		0.622	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		3	43	0	0	0	1	0	3	43					G	242063411	A	G	242063411	3	3	345	1	0	0	0	0	1	0	0	0	11472	304	11	3	1146	3	PASK	2	242063411	Missense_Mutation	SNP	A	TCGA-EM-A4FN-01A-11D-A257-08	8716266	242063411	1135962	8	7359											
DRD5	1816	broad.mit.edu	37	chr4	9784098	9784098	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctccaggcccttccgctacAagcgcaagatgactcagcgc	9	16	2	2	rs575640830	byFrequency	TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr4:9784098A>G	ENST00000304374.2	+	1	841	c.445A>G	c.(445-447)Aag>Gag	p.K149E		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	149					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.K149E(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CTTCCGCTACAAGCGCAAGAT	0.597													G|||	2	0.000399361	0.0015	0	5008	,	,		21344	0		0	False		,,,				2504	0					ENST00000304374.2																			1	Substitution - Missense(1)	p.K149E(1)	prostate(1)	NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(445-447)Aag>Gag		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						38	36	36					4																	9784098		2203	4300	6503	SO:0001583	missense	0				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784098A>G	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"GPCR / Class A : Dopamine receptors"	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.445A>G	4.37:g.9784098A>G	ENSP00000306129:p.Lys149Glu						p.K149E	NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN			1	841	+			149					B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.445A>G	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	N	0.915	-0.717774	0.03182	.	.	ENSG00000169676	ENST00000304374	T	0.72282	-0.64	4.35	0.295	0.15752	GPCR, rhodopsin-like superfamily (1);	0.109106	0.64402	N	0.000008	T	0.28134	0.0694	N	0.00308	-1.67	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.42716	-0.9435	10	0.02654	T	1	.	11.2884	0.49234	0.0746:0.5299:0.3954:0.0	.	149	P21918	DRD5_HUMAN	E	149	ENSP00000306129:K149E	ENSP00000306129:K149E	K	+	1	0	DRD5	9393196	1.000000	0.71417	0.837000	0.33122	0.756000	0.42949	3.541000	0.53618	-0.488000	0.06726	-0.684000	0.03749	AAG		0.597	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			3	25	0	0	0	1	0	3	25					G	9784098	A	G	9784098	3	3	345	1	0	0	0	0	1	0	0	0	4760	131	5	3	447	3	DRD5	4	9784098	Missense_Mutation	SNP	A	TCGA-EM-A4FN-01A-11D-A257-08		9784098	181370178	9	7360											
BTN3A3	10384	broad.mit.edu	37	chr6	26448653	26448653	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaaatgggatacgctgcaaCagagcaagaaataagcctaa	10	7	0	3			TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr6:26448653C>A	ENST00000244519.2	+	6	1136	c.893C>A	c.(892-894)aCa>aAa	p.T298K	BTN3A3_ENST00000361232.3_Missense_Mutation_p.T256K|BTN3A3_ENST00000339789.4_Missense_Mutation_p.T256K	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	298					T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						TACGCTGCAACAGAGCAAGAA	0.498																																						ENST00000244519.2																			0				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(892-894)aCa>aAa		butyrophilin, subfamily 3, member A3							70	74	73					6																	26448653		2203	4300	6503	SO:0001583	missense	10384					integral to membrane		g.chr6:26448653C>A	U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.893C>A	6.37:g.26448653C>A	ENSP00000244519:p.Thr298Lys					BTN3A3_ENST00000339789.4_Missense_Mutation_p.T256K|BTN3A3_ENST00000361232.3_Missense_Mutation_p.T256K	p.T298K	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN			6	1136	+			298					B4DWI7|E9PCP5	Missense_Mutation	SNP	ENST00000244519.2	37	c.893C>A	CCDS4611.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.940972	0.00479	.	.	ENSG00000111801	ENST00000244519;ENST00000339789;ENST00000361232	T;T;T	0.36157	1.34;1.27;1.29	1.42	0.23	0.15372	.	.	.	.	.	T	0.03178	0.0093	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.42032	-0.9475	9	0.02654	T	1	.	2.6536	0.05005	0.4135:0.3696:0.2168:0.0	.	256;298	E9PCP5;O00478	.;BT3A3_HUMAN	K	298;256;256	ENSP00000244519:T298K;ENSP00000344968:T256K;ENSP00000355238:T256K	ENSP00000244519:T298K	T	+	2	0	BTN3A3	26556632	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.296000	0.08287	0.044000	0.15775	0.455000	0.32223	ACA		0.498	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040116.2	NM_006994		16	21	1	0	2.32078e-09	1	2.69211e-09	16	21					A	26448653	C	A	26448653	3	1	345	1	0	0	0	0	1	0	0	0	1564	478	17	4	907	4	BTN3A3	6	26448653	Missense_Mutation	SNP	C	TCGA-EM-A4FN-01A-11D-A257-08		26448653	144666414	10	7361											
RIMS1	22999	broad.mit.edu	37	chr6	73110295	73110295	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgacctgtccagcatggtgaTcggatggtacaaattgttcc	11	10	0	1			TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr6:73110295T>A	ENST00000521978.1	+	34	4958	c.4958T>A	c.(4957-4959)aTc>aAc	p.I1653N	RIMS1_ENST00000538414.1_Missense_Mutation_p.I459N|RIMS1_ENST00000348717.5_Missense_Mutation_p.I1436N|RIMS1_ENST00000491071.2_Missense_Mutation_p.I1442N|RIMS1_ENST00000517960.1_Missense_Mutation_p.I1436N|RIMS1_ENST00000518273.1_Missense_Mutation_p.I1332N|RIMS1_ENST00000414192.2_Missense_Mutation_p.I180N|RIMS1_ENST00000425662.2_Missense_Mutation_p.I721N|RIMS1_ENST00000517827.1_Missense_Mutation_p.I787N|RIMS1_ENST00000264839.7_Missense_Mutation_p.I1502N|RIMS1_ENST00000401910.3_Missense_Mutation_p.I973N|RIMS1_ENST00000522291.1_Missense_Mutation_p.I1252N|RIMS1_ENST00000523963.1_Missense_Mutation_p.I778N|RIMS1_ENST00000520567.1_Missense_Mutation_p.I1303N|RIMS1_ENST00000431478.2_3'UTR	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1653					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AGCATGGTGATCGGATGGTAC	0.537																																						ENST00000264839.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102						c.(4504-4506)aTc>aAc		regulating synaptic membrane exocytosis 1							143	147	146					6																	73110295		2103	4245	6348	SO:0001583	missense	0				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:73110295T>A	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.4958T>A	6.37:g.73110295T>A	ENSP00000428417:p.Ile1653Asn					RIMS1_ENST00000491071.2_Missense_Mutation_p.I1442N|RIMS1_ENST00000521978.1_Missense_Mutation_p.I1653N|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000517827.1_Missense_Mutation_p.I787N|RIMS1_ENST00000348717.5_Missense_Mutation_p.I1436N|RIMS1_ENST00000517960.1_Missense_Mutation_p.I1436N|RIMS1_ENST00000538414.1_Missense_Mutation_p.I459N|RIMS1_ENST00000425662.2_Missense_Mutation_p.I721N|RIMS1_ENST00000523963.1_Missense_Mutation_p.I778N|RIMS1_ENST00000401910.3_Missense_Mutation_p.I973N|RIMS1_ENST00000414192.2_Missense_Mutation_p.I180N|RIMS1_ENST00000518273.1_Missense_Mutation_p.I1332N|RIMS1_ENST00000520567.1_Missense_Mutation_p.I1303N|RIMS1_ENST00000522291.1_Missense_Mutation_p.I1252N	p.I1502N			Q86UR5	RIMS1_HUMAN			30	4505	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	1653					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.4505T>A	CCDS47449.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	23.9|23.9|23.9	4.467709|4.467709|4.467709	0.84533|0.84533|0.84533	.|.|.	.|.|.	ENSG00000079841|ENSG00000079841|ENSG00000079841	ENST00000517433|ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000517827;ENST00000370420;ENST00000538414;ENST00000414192|ENST00000522211	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	.|0.76060|.	.|-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99|.	5.21|5.21|5.21	5.21|5.21|5.21	0.72293|0.72293|0.72293	.|C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);|.	.|0.000000|.	.|0.64402|.	.|D|.	.|0.000011|.	T|T|T	0.69504|0.69504|0.69504	0.3118|0.3118|0.3118	M|M|M	0.78637|0.78637|0.78637	2.42|2.42|2.42	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|B;P;D;D;D;D;D;D;D;D;D;D;D|.	.|0.71674|.	.|0.262;0.621;0.996;0.985;0.997;0.998;0.992;0.998;0.997;0.998;0.992;0.998;0.997|.	.|B;B;D;P;D;P;D;P;D;D;D;D;D|.	.|0.79784|.	.|0.211;0.208;0.993;0.705;0.979;0.891;0.955;0.858;0.979;0.988;0.97;0.991;0.979|.	T|T|T	0.71988|0.71988|0.71988	-0.4426|-0.4426|-0.4426	5|10|5	.|0.72032|.	.|D|.	.|0.01|.	-18.1571|-18.1571|-18.1571	15.3861|15.3861|15.3861	0.74703|0.74703|0.74703	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	.|277;459;787;778;1502;973;1252;556;1332;1436;729;1442;1653|.	.|B7Z6K9;B7Z7W2;B7Z3S3;E9PHF5;E9PHR1;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5|.	.|.;.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN|.	E|N|T	998|1442;1502;1442;1436;1332;1252;1502;1436;1332;1303;1252;1653;973;778;721;787;701;459;180|571	.|ENSP00000430101:I1442N;ENSP00000275037:I1436N;ENSP00000264839:I1502N;ENSP00000429959:I1436N;ENSP00000430408:I1332N;ENSP00000430502:I1303N;ENSP00000430932:I1252N;ENSP00000428417:I1653N;ENSP00000385649:I973N;ENSP00000428328:I778N;ENSP00000411235:I721N;ENSP00000428367:I787N;ENSP00000359448:I701N;ENSP00000439730:I459N;ENSP00000402273:I180N|.	.|ENSP00000264839:I1502N|.	D|I|S	+|+|+	3|2|1	2|0|0	RIMS1|RIMS1|RIMS1	73167016|73167016|73167016	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.560000|0.560000|0.560000	0.28344|0.28344|0.28344	0.944000|0.944000|0.944000	0.59088|0.59088|0.59088	7.936000|7.936000|7.936000	0.87665|0.87665|0.87665	2.073000|2.073000|2.073000	0.62155|0.62155|0.62155	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	GAT|ATC|TCG		0.537	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			28	43	0	0	0	1	0	28	43					A	73110295	T	A	73110295	3	1	345	1	0	0	0	0	1	0	0	0	13367	1435	50	5	5255	5	RIMS1	6	73110295	Missense_Mutation	SNP	T	TCGA-EM-A4FN-01A-11D-A257-08	46661642	73110295	98004772	11	7362											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		16	31	0	0	0	1	0	16	31					T	140453136	A	T	140453136	3	4	345	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A4FN-01A-11D-A257-08		140453136	18685527	12	7363											
LIPK	643414	broad.mit.edu	37	chr10	90490787	90490787	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggcttaattgcatctgccAgtaactggatttgcaacctg	9	9	1	0			TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr10:90490787A>G	ENST00000404190.1	+	3	271	c.271A>G	c.(271-273)Agt>Ggt	p.S91G		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	91					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		TGCATCTGCCAGTAACTGGAT	0.458																																						ENST00000404190.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12						c.(271-273)Agt>Ggt		lipase, family member K							72	72	72					10																	90490787		2027	4226	6253	SO:0001583	missense	643414				lipid catabolic process	extracellular region	hydrolase activity	g.chr10:90490787A>G		CCDS44455.1	10q23.31	2008-02-04	2007-02-27	2007-02-27	ENSG00000204021	ENSG00000204021			23444	protein-coding gene	gene with protein product		613922	"lipase-like, ab-hydrolase domain containing 2"	LIPL2			Standard	NM_001080518		Approved	bA186O14.2	uc010qmv.2	Q5VXJ0	OTTHUMG00000018693	ENST00000404190.1:c.271A>G	10.37:g.90490787A>G	ENSP00000383900:p.Ser91Gly						p.S91G	NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)	3	271	+		Colorectal(252;0.0381)	91					A7KIH8	Missense_Mutation	SNP	ENST00000404190.1	37	c.271A>G	CCDS44455.1	.	.	.	.	.	.	.	.	.	.	A	13.89	2.370814	0.42003	.	.	ENSG00000204021	ENST00000404190	D	0.85484	-1.99	5.45	4.32	0.51571	Partial AB-hydrolase lipase domain (1);	0.268970	0.32935	N	0.005471	T	0.79112	0.4391	L	0.46885	1.475	0.37198	D	0.90425	B	0.06786	0.001	B	0.17979	0.02	T	0.75439	-0.3317	10	0.41790	T	0.15	-8.8012	8.2988	0.32001	0.8413:0.0:0.1587:0.0	.	91	Q5VXJ0	LIPK_HUMAN	G	91	ENSP00000383900:S91G	ENSP00000383900:S91G	S	+	1	0	LIPK	90480767	0.005000	0.15991	0.860000	0.33809	0.983000	0.72400	1.965000	0.40471	1.090000	0.41315	0.533000	0.62120	AGT		0.458	LIPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049253.2	XM_061222		4	6	0	0	0	1	0	4	6					G	90490787	A	G	90490787	3	3	345	1	0	0	0	0	1	0	0	0	8827	188	7	3	281	3	LIPK	10	90490787	Missense_Mutation	SNP	A	TCGA-EM-A4FN-01A-11D-A257-08		90490787	45043960	13	7364											
MUC6	4588	broad.mit.edu	37	chr11	1017526	1017526	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agaagttgaggtgacttcagGatggtgtgtggaggaagtgt	18	2	1	3			TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr11:1017526G>C	ENST00000421673.2	-	31	5325	c.5275C>G	c.(5275-5277)Cct>Gct	p.P1759A		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1759	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTGACTTCAGGATGGTGTGTG	0.562																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(5275-5277)Cct>Gct		mucin 6, oligomeric mucus/gel-forming							783	742	756					11																	1017526		2200	4294	6494	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1017526G>C	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5275C>G	11.37:g.1017526G>C	ENSP00000406861:p.Pro1759Ala						p.P1759A	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	5325	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1759			Approximate repeats.|Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.5275C>G	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	-	2.822	-0.244678	0.05906	.	.	ENSG00000184956	ENST00000421673	T	0.19394	2.15	2.76	-0.819	0.10829	.	.	.	.	.	T	0.19366	0.0465	L	0.38175	1.15	0.09310	N	1	D	0.62365	0.991	P	0.62382	0.901	T	0.17776	-1.0358	9	0.02654	T	1	.	0.8768	0.01226	0.2384:0.1803:0.3975:0.1838	.	1759	Q6W4X9	MUC6_HUMAN	A	1759	ENSP00000406861:P1759A	ENSP00000406861:P1759A	P	-	1	0	MUC6	1007526	0.000000	0.05858	0.000000	0.03702	0.146000	0.21551	-0.370000	0.07523	-0.326000	0.08564	0.313000	0.20887	CCT		0.562	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		7	848	0	0	0	1	0	7	848					C	1017526	G	C	1017526	3	2	345	1	0	0	0	0	1	0	0	0	9980	1174	41	4	2056	4	MUC6	11	1017526	Missense_Mutation	SNP	G	TCGA-EM-A4FN-01A-11D-A257-08		1017526	133988990	14	7365											
GRIA4	2893	broad.mit.edu	37	chr11	105732820	105732820	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catgtcagcgctatatgtgtGgaaaattttaatgatgtcag	10	5	2	1			TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr11:105732820G>T	ENST00000530497.1	+	4	558	c.558G>T	c.(556-558)gtG>gtT	p.V186V	GRIA4_ENST00000428631.2_Silent_p.V186V|GRIA4_ENST00000393125.2_Silent_p.V186V|GRIA4_ENST00000282499.5_Silent_p.V186V|GRIA4_ENST00000393127.2_Silent_p.V186V|GRIA4_ENST00000525187.1_Silent_p.V186V			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	186					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		CTATATGTGTGGAAAATTTTA	0.358																																						ENST00000393127.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(556-558)gtG>gtT		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						89	88	88					11																	105732820		2202	4298	6500	SO:0001819	synonymous_variant	0				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105732820G>T	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4574	protein-coding gene	gene with protein product		138246	"glutamate receptor, ionotrophic, AMPA 4"	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.558G>T	11.37:g.105732820G>T						GRIA4_ENST00000530497.1_Silent_p.V186V|GRIA4_ENST00000282499.5_Silent_p.V186V|GRIA4_ENST00000525187.1_Silent_p.V186V|GRIA4_ENST00000428631.2_Silent_p.V186V|GRIA4_ENST00000393125.2_Silent_p.V186V	p.V186V	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	5	1004	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	186					Q86XE8	Silent	SNP	ENST00000530497.1	37	c.558G>T	CCDS8333.1																																																																																				0.358	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			10	31	1	0	5.50884e-06	1	5.9169e-06	10	31					T	105732820	G	T	105732820	2	4	345	1	0	0	0	0	0	0	0	1	6770	1335	47	4		4	GRIA4	11	105732820	Silent	SNP	G	TCGA-EM-A4FN-01A-11D-A257-08	104715294	105732820	29273696	15	7366											
RASSF8	11228	broad.mit.edu	37	chr12	26220530	26220530	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acaggaactggagcagttgaCtaaggagttgcggcaagtca	14	7	1	1			TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr12:26220530C>G	ENST00000405154.2	+	4	1221	c.1022C>G	c.(1021-1023)aCt>aGt	p.T341S	RASSF8_ENST00000282884.9_Missense_Mutation_p.T341S|RASSF8_ENST00000541490.1_Missense_Mutation_p.T341S|RASSF8_ENST00000381352.3_Missense_Mutation_p.T341S|RASSF8_ENST00000542865.1_Missense_Mutation_p.T341S	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	341					signal transduction (GO:0007165)					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					GAGCAGTTGACTAAGGAGTTG	0.433																																						ENST00000405154.2																			0				cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25						c.(1021-1023)aCt>aGt		Ras association (RalGDS/AF-6) domain family (N-terminal) member 8							83	77	79					12																	26220530		2203	4300	6503	SO:0001583	missense	11228				signal transduction			g.chr12:26220530C>G	U82396	CCDS8705.1, CCDS53765.1	12p12.3	2013-05-30	2008-02-22	2005-09-14	ENSG00000123094	ENSG00000123094			13232	protein-coding gene	gene with protein product		608231	"chromosome 12 open reading frame 2"	C12orf2			Standard	NM_007211		Approved	HoJ-1	uc001rgx.3	Q8NHQ8	OTTHUMG00000169087	ENST00000405154.2:c.1022C>G	12.37:g.26220530C>G	ENSP00000384491:p.Thr341Ser					RASSF8_ENST00000282884.9_Missense_Mutation_p.T341S|RASSF8_ENST00000542865.1_Missense_Mutation_p.T341S|RASSF8_ENST00000541490.1_Missense_Mutation_p.T341S|RASSF8_ENST00000381352.3_Missense_Mutation_p.T341S	p.T341S	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN			4	1221	+	Colorectal(261;0.0847)		341					A8K1Z0|O95647|Q5SCI2|Q76KB6	Missense_Mutation	SNP	ENST00000405154.2	37	c.1022C>G	CCDS53765.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854231	0.91355	.	.	ENSG00000123094	ENST00000381352;ENST00000405154;ENST00000542865;ENST00000541490;ENST00000282884	D;D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96;-2.96	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.94159	0.8126	L	0.53249	1.67	0.58432	D	0.999998	D;D	0.76494	0.999;0.996	D;P	0.69142	0.962;0.883	D	0.90334	0.4354	10	0.09590	T	0.72	-15.8747	19.2124	0.93763	0.0:1.0:0.0:0.0	.	341;341	Q8NHQ8-2;Q8NHQ8	.;RASF8_HUMAN	S	341	ENSP00000370756:T341S;ENSP00000384491:T341S;ENSP00000439839:T341S;ENSP00000443096:T341S;ENSP00000282884:T341S	ENSP00000282884:T341S	T	+	2	0	RASSF8	26111797	1.000000	0.71417	0.987000	0.45799	0.997000	0.91878	7.427000	0.80284	2.861000	0.98227	0.655000	0.94253	ACT		0.433	RASSF8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402209.2	NM_007211		3	34	0	0	0	1	0	3	34					G	26220530	C	G	26220530	3	3	345	1	0	0	0	0	1	0	0	0	13092	565	20	4	1032	4	RASSF8	12	26220530	Missense_Mutation	SNP	C	TCGA-EM-A4FN-01A-11D-A257-08		26220530	107631365	16	7367											
LMO7	4008	broad.mit.edu	37	chr13	76427339	76427339	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgtgcaagactttagTcgcccaccacctcagctggt	8	15	2	1			TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr13:76427339T>A	ENST00000321797.8	+	26	4498	c.3777T>A	c.(3775-3777)agT>agA	p.S1259R	LMO7_ENST00000465261.2_Missense_Mutation_p.S1259R|LMO7_ENST00000357063.3_Missense_Mutation_p.S1544R|LMO7_ENST00000377534.3_Missense_Mutation_p.S1544R|LMO7_ENST00000341547.4_Missense_Mutation_p.S1210R|LMO7_ENST00000526202.1_Missense_Mutation_p.S1136R			Q8WWI1	LMO7_HUMAN	LIM domain 7	1544					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AAGACTTTAGTCGCCCACCAC	0.567																																						ENST00000357063.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(4630-4632)agT>agA		LIM domain 7							80	69	73					13																	76427339		2203	4300	6503	SO:0001583	missense	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76427339T>A	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.3777T>A	13.37:g.76427339T>A	ENSP00000317802:p.Ser1259Arg					LMO7_ENST00000526202.1_Missense_Mutation_p.S1136R|LMO7_ENST00000321797.8_Missense_Mutation_p.S1259R|LMO7_ENST00000377534.3_Missense_Mutation_p.S1544R|LMO7_ENST00000465261.2_Missense_Mutation_p.S1259R|LMO7_ENST00000341547.4_Missense_Mutation_p.S1210R	p.S1544R			Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	29	5892	+		Breast(118;0.0992)	1544					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	37	c.4632T>A		.	.	.	.	.	.	.	.	.	.	T	18.45	3.626459	0.66901	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000321797;ENST00000526202;ENST00000465261	T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48	5.68	1.65	0.23941	.	0.000000	0.64402	D	0.000001	T	0.68035	0.2957	M	0.77103	2.36	0.44409	D	0.997321	D;D;D	0.69078	0.994;0.996;0.997	P;D;D	0.71656	0.832;0.919;0.974	T	0.68663	-0.5349	10	0.72032	D	0.01	-19.0922	9.9596	0.41688	0.0:0.3953:0.0:0.6047	.	1136;1210;1259	E9PMS6;Q8WWI1-3;E9PLH4	.;.;.	R	1210;1544;1544;1259;1136;1259	ENSP00000342112:S1210R;ENSP00000349571:S1544R;ENSP00000366757:S1544R;ENSP00000317802:S1259R;ENSP00000431129:S1136R;ENSP00000433352:S1259R	ENSP00000317802:S1259R	S	+	3	2	LMO7	75325340	0.998000	0.40836	0.998000	0.56505	0.540000	0.34992	0.209000	0.17435	0.339000	0.23719	0.528000	0.53228	AGT		0.567	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		19	28	0	0	0	1	0	19	28					A	76427339	T	A	76427339	3	1	345	1	0	0	0	0	1	0	0	0	8855	1664	58	5	4746	5	LMO7	13	76427339	Missense_Mutation	SNP	T	TCGA-EM-A4FN-01A-11D-A257-08		76427339	38742539	17	7368											
AHNAK2	113146	broad.mit.edu	37	chr14	105413628	105413628	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccggctccctcgggaacGtggccctctgggagtttcac	14	14	2	0	rs373499038		TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr14:105413628G>A	ENST00000333244.5	-	7	8279	c.8160C>T	c.(8158-8160)caC>caT	p.H2720H	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2720						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)			CCTCGGGAACGTGGCCCTCTG	0.597																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(8158-8160)caC>caT		AHNAK nucleoprotein 2		G		1,3815		0,1,1907	122	134	130		8160	-5.9	0.0	14		130	0,8230		0,0,4115	no	coding-synonymous	AHNAK2	NM_138420.2		0,1,6022	AA,AG,GG		0.0,0.0262,0.0083		2720/5796	105413628	1,12045	1908	4115	6023	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105413628G>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.8160C>T	14.37:g.105413628G>A						AHNAK2_ENST00000557457.1_Intron	p.H2720H	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	8279	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2720					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.8160C>T	CCDS45177.1																																																																																				0.597	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		83	96	0	0	0	1	0	83	96					A	105413628	G	A	105413628	2	1	345	1	0	0	0	0	0	0	0	1	415	1136	40	1		1	AHNAK2	14	105413628	Silent	SNP	G	TCGA-EM-A4FN-01A-11D-A257-08		105413628	1935912	18	7369											
FBXL8	55336	broad.mit.edu	37	chr16	67196927	67196929	+	In_Frame_Del	DEL	GCC	GCC	-													gcgaggcctgcgcctggagtGccgcggagaaaaaccgctct							TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr16:67196927_67196929delGCC	ENST00000258200.3	+	3	506_508	c.329_331delGCC	c.(328-333)tgccgc>tgc	p.R111del	TRADD_ENST00000345057.4_5'Flank|HSF4_ENST00000264009.8_5'Flank|HSF4_ENST00000521374.1_5'Flank|HSF4_ENST00000584272.1_5'Flank|FBXL8_ENST00000519917.1_In_Frame_Del_p.R111del|HSF4_ENST00000421453.1_5'Flank|RP11-5A19.5_ENST00000518227.1_5'Flank			Q96CD0	FBXL8_HUMAN	F-box and leucine-rich repeat protein 8	111										endometrium(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185)		CGCCTGGAGTGCCGCGGAGAAAA	0.714																																						ENST00000258200.3																			0				endometrium(1)	1						c.(328-333)tgc>t		F-box and leucine-rich repeat protein 8																																				SO:0001651	inframe_deletion	55336						protein binding	g.chr16:67196927_67196929delGCC	AK002140	CCDS10831.1	16q22.1-q22.3	2013-01-22			ENSG00000135722	ENSG00000135722		"F-boxes / Leucine-rich repeats"	17875	protein-coding gene	gene with protein product		609077					Standard	NM_018378		Approved	Fbl8	uc002erk.1	Q96CD0	OTTHUMG00000137514	ENST00000258200.3:c.329_331delGCC	16.37:g.67196927_67196929delGCC	ENSP00000258200:p.Arg111del					FBXL8_ENST00000519917.1_In_Frame_Del_p.CR110del	p.CR110del			Q96CD0	FBXL8_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185)	3	506_508	+		Ovarian(137;0.0563)	110					Q9NUM0	In_Frame_Del	DEL	ENST00000258200.3	37	c.329_331delGCC	CCDS10831.1																																																																																				0.714	FBXL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268834.2			2	4						2	4	---	---	---	---	-	67196929	GCC	-	67196927	7	5	345	1	0	1	0	1	0	0	0	0	5725	1319	46	0	335	0	FBXL8	16	67196927	In_Frame_Del	DEL	GCC	TCGA-EM-A4FN-01A-11D-A257-08		67196927	23157826	19	7370											
PHLPP1	23239	broad.mit.edu	37	chr18	60645971	60645971	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctccacttctgagatgagCagcgaggtggggtcaacagc	13	11	3	2			TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr18:60645971C>T	ENST00000262719.5	+	17	4695	c.4461C>T	c.(4459-4461)agC>agT	p.S1487S	PHLPP1_ENST00000400316.4_Silent_p.S975S			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1487					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						CTGAGATGAGCAGCGAGGTGG	0.642																																						ENST00000400316.4																			0				endometrium(2)|kidney(2)|lung(13)	17						c.(2923-2925)agC>agT		PH domain and leucine rich repeat protein phosphatase 1							29	32	31					18																	60645971		2077	4202	6279	SO:0001819	synonymous_variant	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60645971C>T	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	20610	protein-coding gene	gene with protein product		609396	"pleckstrin homology domain containing, family E (with leucine rich repeats) member 1", "PH domain and leucine rich repeat protein phosphatase"	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.4461C>T	18.37:g.60645971C>T						PHLPP1_ENST00000262719.5_Silent_p.S1487S	p.S975S	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN			17	4706	+			1487					A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Silent	SNP	ENST00000262719.5	37	c.2925C>T	CCDS45881.2																																																																																				0.642	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		3	19	0	0	0	1	0	3	19					T	60645971	C	T	60645971	2	4	345	1	0	0	0	0	0	0	0	1	11854	709	25	2		2	PHLPP1	18	60645971	Silent	SNP	C	TCGA-EM-A4FN-01A-11D-A257-08		60645971	17431277	20	7371											
PCNT	5116	broad.mit.edu	37	chr21	47805846	47805846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgggagaaccgggaaggcGcaaacctcctctccatgctc	12	14	1	1			TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr21:47805846G>A	ENST00000359568.5	+	17	3519	c.3412G>A	c.(3412-3414)Gca>Aca	p.A1138T	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1138					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCGGGAAGGCGCAAACCTCCT	0.612																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(3412-3414)Gca>Aca		pericentrin							149	117	128					21																	47805846		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47805846G>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.3412G>A	21.37:g.47805846G>A	ENSP00000352572:p.Ala1138Thr					PCNT_ENST00000480896.1_3'UTR	p.A1138T	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			17	3519	+	Breast(49;0.112)		1138					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.3412G>A	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.411552	0.01145	.	.	ENSG00000160299	ENST00000359568	T	0.01446	4.88	5.27	-0.65	0.11457	.	1.574380	0.04418	N	0.367135	T	0.00998	0.0033	N	0.03050	-0.425	0.09310	N	1	B;B	0.18310	0.027;0.0	B;B	0.12156	0.007;0.004	T	0.45934	-0.9227	10	0.09590	T	0.72	.	8.4542	0.32888	0.5076:0.0:0.4924:0.0	.	1020;1138	O95613-2;O95613	.;PCNT_HUMAN	T	1138	ENSP00000352572:A1138T	ENSP00000352572:A1138T	A	+	1	0	PCNT	46630274	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.018000	0.12568	-0.050000	0.13356	0.585000	0.79938	GCA		0.612	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		5	97	0	0	0	1	0	5	97					A	47805846	G	A	47805846	3	1	345	1	0	0	0	0	1	0	0	0	11590	1087	38	1	3478	1	PCNT	21	47805846	Missense_Mutation	SNP	G	TCGA-EM-A4FN-01A-11D-A257-08		47805846	324049	21	7372											
ATP1A2	477	broad.mit.edu	37	chr1	160109744	160109744	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcatctatgatgaggtcCgaaagctcatcctgcggcgg	11	11	4	2			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr1:160109744C>T	ENST00000361216.3	+	22	3093	c.3004C>T	c.(3004-3006)Cga>Tga	p.R1002*	ATP1A2_ENST00000392233.3_Nonsense_Mutation_p.R991*	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	1002					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.R1002R(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGATGAGGTCCGAAAGCTCAT	0.582																																						ENST00000361216.3																			1	Substitution - coding silent(1)	p.R1002R(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(3004-3006)Cga>Tga		ATPase, Na+/K+ transporting, alpha 2 polypeptide							141	126	131					1																	160109744		2203	4300	6503	SO:0001587	stop_gained	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160109744C>T	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"ATPases / P-type"	800	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-2", "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2"	182340	"migraine, hemiplegic 2", "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.3004C>T	1.37:g.160109744C>T	ENSP00000354490:p.Arg1002*					ATP1A2_ENST00000392233.3_Nonsense_Mutation_p.R991*	p.R1002*	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		22	3093	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		1002					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Nonsense_Mutation	SNP	ENST00000361216.3	37	c.3004C>T	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	C	42	9.427856	0.99167	.	.	ENSG00000018625	ENST00000361216;ENST00000392233;ENST00000435866	.	.	.	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.942	0.41587	0.2027:0.7973:0.0:0.0	.	.	.	.	X	1002;991;705	.	ENSP00000354490:R1002X	R	+	1	2	ATP1A2	158376368	0.965000	0.33210	0.995000	0.50966	0.982000	0.71751	0.734000	0.26101	2.420000	0.82092	0.655000	0.94253	CGA		0.582	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		10	69	0	0	0	1	0	10	69					T	160109744	C	T	160109744	4	4	346	1	0	0	0	0	0	1	0	0	1129	644	23	1	3090	1	ATP1A2	1	160109744	Nonsense_Mutation	SNP	C	TCGA-EM-A4FO-01A-11D-A257-08		160109744	89140877	1	7373											
CD84	8832	broad.mit.edu	37	chr1	160523156	160523156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccacattttaccttctgGgaaaatcctaccttgtcttc	4	12	2	0			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr1:160523156G>A	ENST00000311224.4	-	4	838	c.772C>T	c.(772-774)Cca>Tca	p.P258S	CD84_ENST00000368048.3_Intron|CD84_ENST00000534968.1_Intron|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368051.3_Intron|CD84_ENST00000368047.3_5'Flank|CD84_ENST00000368054.3_Intron	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	258					blood coagulation (GO:0007596)|defense response (GO:0006952)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TTACCTTCTGGGAAAATCCTA	0.458																																						ENST00000311224.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24						c.(772-774)Cca>Tca		CD84 molecule							69	70	70					1																	160523156		2203	4300	6503	SO:0001583	missense	8832				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity	g.chr1:160523156G>A	AF054816	CCDS1206.1, CCDS53395.1, CCDS53396.1, CCDS53397.1	1q24	2013-01-11	2006-03-31		ENSG00000066294	ENSG00000066294		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1704	protein-coding gene	gene with protein product		604513	"CD84 antigen (leukocyte antigen)", "CD84 molecule "			9310491	Standard	NM_003874		Approved	SLAMF5, hCD84, mCD84	uc001fwh.4	Q9UIB8	OTTHUMG00000022788	ENST00000311224.4:c.772C>T	1.37:g.160523156G>A	ENSP00000312367:p.Pro258Ser					CD84_ENST00000368051.3_Intron|CD84_ENST00000534968.1_Intron|CD84_ENST00000368054.3_Intron|CD84_ENST00000368048.3_Intron|RP11-528G1.2_ENST00000446952.1_RNA	p.P258S	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		4	838	-	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		258					B2R8T1|B7Z3R8|O15430|O95266|O95660|Q5H9R1|Q6FHA8|Q8WLP1|Q8WWI8|Q9UF04|Q9UIB6|Q9UIB7|Q9UIT7	Missense_Mutation	SNP	ENST00000311224.4	37	c.772C>T	CCDS53396.1	.	.	.	.	.	.	.	.	.	.	G	8.372	0.835603	0.16820	.	.	ENSG00000066294	ENST00000311224;ENST00000360056	T;T	0.62364	0.4;0.03	4.93	-0.841	0.10752	.	10.138400	0.00166	N	0.000000	T	0.13713	0.0332	N	0.11201	0.11	0.18873	N	0.999982	B;B	0.19331	0.035;0.02	B;B	0.16289	0.015;0.007	T	0.06006	-1.0851	10	0.07644	T	0.81	1.6819	3.8887	0.09110	0.4095:0.0:0.4302:0.1603	.	258;258	Q9UIB8-4;Q9UIB8	.;SLAF5_HUMAN	S	258	ENSP00000312367:P258S;ENSP00000353163:P258S	ENSP00000312367:P258S	P	-	1	0	CD84	158789780	0.003000	0.15002	0.064000	0.19789	0.819000	0.46315	0.164000	0.16542	-0.226000	0.09899	-0.142000	0.14014	CCA		0.458	CD84-003	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059092.1	NM_003874		7	37	0	0	0	1	0	7	37					A	160523156	G	A	160523156	3	1	346	1	0	0	0	0	1	0	0	0	3042	1232	43	2	285	2	CD84	1	160523156	Missense_Mutation	SNP	G	TCGA-EM-A4FO-01A-11D-A257-08	413412	160523156	88727465	2	7374											
ACOXL	55289	broad.mit.edu	37	chr2	111556600	111556600	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gccttccttagggccccactGtttcatcgttcctgtccggg	10	15	1	0			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr2:111556600G>C	ENST00000389811.4	+	7	694	c.470G>C	c.(469-471)tGt>tCt	p.C157S	ACOXL_ENST00000340561.4_Missense_Mutation_p.C157S|ACOXL_ENST00000439055.1_Missense_Mutation_p.C157S			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	157					fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						GGGCCCCACTGTTTCATCGTT	0.463																																						ENST00000389811.4																			0				kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						c.(469-471)tGt>tCt		acyl-CoA oxidase-like							142	123	129					2																	111556600		2203	4300	6503	SO:0001583	missense	55289				fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity	g.chr2:111556600G>C		CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"acyl-Coenzyme A oxidase-like"				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.470G>C	2.37:g.111556600G>C	ENSP00000374461:p.Cys157Ser					ACOXL_ENST00000439055.1_Missense_Mutation_p.C157S|ACOXL_ENST00000340561.4_Missense_Mutation_p.C157S	p.C157S			Q9NUZ1	ACOXL_HUMAN			7	694	+			157					A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Missense_Mutation	SNP	ENST00000389811.4	37	c.470G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.39|17.39	3.376765|3.376765	0.61735|0.61735	.|.	.|.	ENSG00000153093|ENSG00000153093	ENST00000389811;ENST00000439055;ENST00000340561|ENST00000422487	D;D;D|.	0.98849|.	-5.18;-5.18;-5.18|.	5.35|5.35	5.35|5.35	0.76521|0.76521	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.51618|0.51618	0.1685|0.1685	L|L	0.33093|0.33093	0.98|0.98	0.49213|0.49213	D|D	0.999761|0.999761	P;P;B|.	0.51933|.	0.915;0.949;0.431|.	B;P;B|.	0.45610|.	0.292;0.487;0.269|.	T|T	0.39761|0.39761	-0.9598|-0.9598	10|6	0.52906|0.06625	T|T	0.07|0.88	-11.6428|-11.6428	16.9167|16.9167	0.86153|0.86153	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	157;157;157|.	E9PB20;Q9NUZ1-2;Q9NUZ1|.	.;.;ACOXL_HUMAN|.	S|L	157|9	ENSP00000374461:C157S;ENSP00000407761:C157S;ENSP00000343717:C157S|.	ENSP00000343717:C157S|ENSP00000404255:V9L	C|V	+|+	2|1	0|0	ACOXL|ACOXL	111273071|111273071	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.987000|5.987000	0.70571|0.70571	2.665000|2.665000	0.90641|0.90641	0.650000|0.650000	0.86243|0.86243	TGT|GTT		0.463	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2	NM_018308		13	107	0	0	0	1	0	13	107					C	111556600	G	C	111556600	3	2	346	1	0	0	0	0	1	0	0	0	161	1377	48	4	492	4	ACOXL	2	111556600	Missense_Mutation	SNP	G	TCGA-EM-A4FO-01A-11D-A257-08		111556600	131642773	3	7375											
ZFYVE28	57732	broad.mit.edu	37	chr4	2306946	2306946	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cgcctgggctgccctccgctCctggcctgtgagctggggac	15	16	0	1			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr4:2306946C>G	ENST00000290974.2	-	8	1460	c.1121G>C	c.(1120-1122)gGa>gCa	p.G374A	ZFYVE28_ENST00000511071.1_Missense_Mutation_p.G344A|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.G304A|RP11-478C1.7_ENST00000510632.1_RNA	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	374					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GCCCTCCGCTCCTGGCCTGTG	0.667																																						ENST00000290974.2																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						c.(1120-1122)gGa>gCa		zinc finger, FYVE domain containing 28							36	37	37					4																	2306946		2203	4297	6500	SO:0001583	missense	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2306946C>G	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"Zinc fingers, FYVE domain containing"	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.1121G>C	4.37:g.2306946C>G	ENSP00000290974:p.Gly374Ala					ZFYVE28_ENST00000515312.1_Missense_Mutation_p.G304A|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.G344A|RP11-478C1.7_ENST00000510632.1_RNA	p.G374A	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN			8	1460	-			374					B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Missense_Mutation	SNP	ENST00000290974.2	37	c.1121G>C	CCDS33942.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.697428	0.30142	.	.	ENSG00000159733	ENST00000290974;ENST00000511071;ENST00000515312	T;T;T	0.58652	0.33;0.32;0.33	4.82	3.95	0.45737	.	0.222920	0.47093	N	0.000250	T	0.52008	0.1708	M	0.64997	1.995	0.25658	N	0.986038	B;P	0.48294	0.264;0.908	B;B	0.41860	0.066;0.368	T	0.52859	-0.8519	10	0.56958	D	0.05	.	7.8758	0.29592	0.0:0.7503:0.1644:0.0853	.	344;374	Q9HCC9-2;Q9HCC9	.;LST2_HUMAN	A	374;344;304	ENSP00000290974:G374A;ENSP00000425706:G344A;ENSP00000426299:G304A	ENSP00000290974:G374A	G	-	2	0	ZFYVE28	2276744	0.000000	0.05858	0.024000	0.17045	0.020000	0.10135	0.270000	0.18607	1.230000	0.43646	0.537000	0.68136	GGA		0.667	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		9	40	0	0	0	1	0	9	40					G	2306946	C	G	2306946	3	3	346	1	0	0	0	0	1	0	0	0	17667	855	30	4	1566	4	ZFYVE28	4	2306946	Missense_Mutation	SNP	C	TCGA-EM-A4FO-01A-11D-A257-08		2306946	188847330	4	7376											
BCLAF1	9774	broad.mit.edu	37	chr6	136599357	136599357	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tatggggtgatctaggactaTtatcataagctgaaaggcca	11	6	2	2			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr6:136599357T>A	ENST00000531224.1	-	4	914	c.662A>T	c.(661-663)aAt>aTt	p.N221I	BCLAF1_ENST00000353331.4_Missense_Mutation_p.N219I|BCLAF1_ENST00000527536.1_Missense_Mutation_p.N221I|BCLAF1_ENST00000392348.2_Missense_Mutation_p.N219I|BCLAF1_ENST00000530767.1_Missense_Mutation_p.N221I|BCLAF1_ENST00000527759.1_Missense_Mutation_p.N219I	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	221					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTAGGACTATTATCATAAGC	0.433																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(661-663)aAt>aTt		BCL2-associated transcription factor 1							259	245	250					6																	136599357		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136599357T>A	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.662A>T	6.37:g.136599357T>A	ENSP00000435210:p.Asn221Ile					BCLAF1_ENST00000527759.1_Missense_Mutation_p.N219I|BCLAF1_ENST00000527536.1_Missense_Mutation_p.N221I|BCLAF1_ENST00000530767.1_Missense_Mutation_p.N221I|BCLAF1_ENST00000392348.2_Missense_Mutation_p.N219I|BCLAF1_ENST00000353331.4_Missense_Mutation_p.N219I	p.N221I	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	4	914	-	Colorectal(23;0.24)		221					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.662A>T	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	T	17.71	3.456451	0.63401	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38;2.38;2.38	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000001	T	0.24044	0.0582	L	0.36672	1.1	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.78314	0.991;0.991;0.991;0.991	T	0.01697	-1.1293	10	0.56958	D	0.05	-21.6556	16.4461	0.83932	0.0:0.0:0.0:1.0	.	219;219;221;221	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	I	221;219;221;221;219;219;221	ENSP00000435210:N221I;ENSP00000229446:N219I;ENSP00000435441:N221I;ENSP00000436501:N221I;ENSP00000434826:N219I;ENSP00000376159:N219I;ENSP00000431734:N221I	ENSP00000229446:N219I	N	-	2	0	BCLAF1	136641050	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.767000	0.68850	2.285000	0.76669	0.528000	0.53228	AAT		0.433	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		10	175	0	0	0	1	0	10	175					A	136599357	T	A	136599357	3	1	346	1	0	0	0	0	1	0	0	0	1383	1493	52	5	2140	5	BCLAF1	6	136599357	Missense_Mutation	SNP	T	TCGA-EM-A4FO-01A-11D-A257-08		136599357	34515710	5	7377											
STAG3L4	64940	broad.mit.edu	37	chr7	66774113	66774113	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctgcgccttctgtcacacTagcaccctggctggtgagca	11	14	3	1			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr7:66774113T>C	ENST00000416602.2	+	0	554					NR_040586.1		Q8TBR4	ST3L4_HUMAN	stromal antigen 3-like 4 (pseudogene)											endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				TCTGTCACACTAGCACCCTGG	0.498																																						ENST00000416602.2																			0				endometrium(2)|lung(5)	7															100	101	101					7																	66774113		2203	4300	6503			0							g.chr7:66774113T>C			7q11.21	2013-06-26	2013-06-26		ENSG00000106610	ENSG00000106610			33887	pseudogene	pseudogene			"stromal antigen 3-like 4"				Standard	NR_040585		Approved	FLJ13195, STAG3L4P	uc010laj.3	Q8TBR4	OTTHUMG00000156920		7.37:g.66774113T>C								NR_040586.1		Q8TBR4	STG34_HUMAN			0	554	+		Lung NSC(55;0.0839)|all_lung(88;0.181)						Q9H8W0	RNA	SNP	ENST00000416602.2	37																																																																																						0.498	STAG3L4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346611.1	NM_022906		13	69	0	0	0	1	0	13	69					C	66774113	T	C	66774113	1	2	346	0	1	0	0	0	0	0	0	0	15246	1509	53	3		3	STAG3L4	7	66774113	RNA	SNP	T	TCGA-EM-A4FO-01A-11D-A257-08		66774113	92364550	6	7378											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		16	63	0	0	0	1	0	16	63					T	140453136	A	T	140453136	3	4	346	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A4FO-01A-11D-A257-08	73679023	140453136	18685527	7	7379											
PTPRD	5789	broad.mit.edu	37	chr9	8375990	8375990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttacaggttttgactctaCgtaagaaagctagaaaaggt	11	5	1	3	rs142960593		TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr9:8375990C>T	ENST00000381196.4	-	36	5150	c.4607G>A	c.(4606-4608)cGt>cAt	p.R1536H	PTPRD_ENST00000358503.5_Missense_Mutation_p.R1514H|PTPRD_ENST00000355233.5_Missense_Mutation_p.R1130H|PTPRD_ENST00000486161.1_Missense_Mutation_p.R1129H|PTPRD_ENST00000397606.3_Missense_Mutation_p.R1129H|PTPRD_ENST00000397617.3_Missense_Mutation_p.R1129H|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1536H|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1536H|PTPRD_ENST00000397611.3_Missense_Mutation_p.R1126H|PTPRD_ENST00000537002.1_Missense_Mutation_p.R1126H|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1523H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1536	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R1536L(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTTGACTCTACGTAAGAAAGC	0.468										TSP Lung(15;0.13)																												ENST00000381196.4																			1	Substitution - Missense(1)	p.R1536L(1)	lung(1)	NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(4606-4608)cGt>cAt		protein tyrosine phosphatase, receptor type, D		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	124	108	114		3377,3386,4607,3386,3389,3359	5.7	1.0	9	dbSNP_134	114	6,8592	5.0+/-18.6	0,6,4293	yes	missense,missense,missense,missense,missense,missense	PTPRD	NM_001040712.2,NM_001171025.1,NM_002839.3,NM_130391.3,NM_130392.3,NM_130393.3	29,29,29,29,29,29	0,7,6495	TT,TC,CC		0.0698,0.0227,0.0538	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1126/1503,1129/1506,1536/1913,1129/1506,1130/1507,1120/1497	8375990	7,12997	2203	4299	6502	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8375990C>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4607G>A	9.37:g.8375990C>T	ENSP00000370593:p.Arg1536His	TSP Lung(15;0.13)				PTPRD_ENST00000397611.3_Missense_Mutation_p.R1126H|PTPRD_ENST00000397617.3_Missense_Mutation_p.R1129H|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1536H|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1523H|PTPRD_ENST00000537002.1_Missense_Mutation_p.R1126H|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1514H|PTPRD_ENST00000486161.1_Missense_Mutation_p.R1129H|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1536H|PTPRD_ENST00000355233.5_Missense_Mutation_p.R1130H|PTPRD_ENST00000397606.3_Missense_Mutation_p.R1129H	p.R1536H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	36	5150	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1536			Tyrosine-protein phosphatase 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.4607G>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978672	0.92982	2.27E-4	6.98E-4	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	D;D;D;D;D;D;D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86	5.71	5.71	0.89125	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.92538	0.7630	M	0.78223	2.4	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.996;0.999;0.999;0.999;0.994;0.998;0.999;1.0;0.999	P;D;D;D;P;P;P;D;P	0.74023	0.705;0.982;0.982;0.982;0.763;0.884;0.868;0.941;0.902	D	0.91826	0.5471	9	.	.	.	.	19.8352	0.96655	0.0:1.0:0.0:0.0	.	1129;1120;1129;1130;1126;1126;1523;1536;1536	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	H	1536;1536;1523;1514;1130;1129;1126;1126;1007;1536;1129;1129	ENSP00000370593:R1536H;ENSP00000348812:R1536H;ENSP00000353187:R1523H;ENSP00000351293:R1514H;ENSP00000347373:R1130H;ENSP00000380741:R1129H;ENSP00000380735:R1126H;ENSP00000440515:R1126H;ENSP00000438164:R1536H;ENSP00000417093:R1129H;ENSP00000380731:R1129H	.	R	-	2	0	PTPRD	8365990	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.698000	0.92095	0.585000	0.79938	CGT		0.468	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			13	56	0	0	0	1	0	13	56					T	8375990	C	T	8375990	3	4	346	1	0	0	0	0	1	0	0	0	12799	536	19	1	1163	1	PTPRD	9	8375990	Missense_Mutation	SNP	C	TCGA-EM-A4FO-01A-11D-A257-08		8375990	132837441	8	7380											
UBAP1	51271	broad.mit.edu	37	chr9	34241443	34241443	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgggtcagcagtagtgccacGaaacagaaagttctcagccc	11	12	2	1			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr9:34241443G>A	ENST00000297661.4	+	4	655	c.420G>A	c.(418-420)acG>acA	p.T140T	UBAP1_ENST00000379186.4_Silent_p.T140T|UBAP1_ENST00000359544.2_Silent_p.T140T|UBAP1_ENST00000536252.1_Silent_p.T140T|UBAP1_ENST00000540348.1_Silent_p.T140T|UBAP1_ENST00000543944.1_Silent_p.T176T|UBAP1_ENST00000545103.1_Silent_p.T204T	NM_016525.4	NP_057609.2	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	140					protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)	ubiquitin binding (GO:0043130)			endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			GTAGTGCCACGAAACAGAAAG	0.478																																					NSCLC(109;1074 1634 14978 20375 39620)	ENST00000536252.1																			0				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13						c.(418-420)acG>acA		ubiquitin associated protein 1							127	118	121					9																	34241443		2203	4300	6503	SO:0001819	synonymous_variant	51271					cytoplasm		g.chr9:34241443G>A	AF222043	CCDS6550.1	9p13.3	2008-05-15	2002-08-27	2002-08-30	ENSG00000165006	ENSG00000165006			12461	protein-coding gene	gene with protein product		609787	"ubiquitin associated protein"	UBAP			Standard	NM_001171201		Approved		uc011loj.2	Q9NZ09	OTTHUMG00000000430	ENST00000297661.4:c.420G>A	9.37:g.34241443G>A						UBAP1_ENST00000379186.4_Silent_p.T140T|UBAP1_ENST00000297661.4_Silent_p.T140T|UBAP1_ENST00000545103.1_Silent_p.T204T|UBAP1_ENST00000543944.1_Silent_p.T176T|UBAP1_ENST00000359544.2_Silent_p.T140T|UBAP1_ENST00000540348.1_Silent_p.T140T	p.T140T	NM_001171203.2	NP_001164674.1	Q9NZ09	UBAP1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00272)		5	818	+			140					B7Z348|B7Z8N9|D3DRL7|F5GXE2|F5H0J8|Q4V759|Q53FP7|Q5T7B3|Q6FI75|Q8NC52|Q8NCG6|Q8NCH9	Silent	SNP	ENST00000297661.4	37	c.420G>A	CCDS6550.1																																																																																				0.478	UBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001084.1			9	58	0	0	0	1	0	9	58					A	34241443	G	A	34241443	2	1	346	1	0	0	0	0	0	0	0	1	16833	1045	37	1		1	UBAP1	9	34241443	Silent	SNP	G	TCGA-EM-A4FO-01A-11D-A257-08	25865453	34241443	106971988	9	7381											
APAF1	317	broad.mit.edu	37	chr12	99119209	99119209	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagatctggagttttgatcTccttttgccacttcatgaat	7	10	3	3	rs138188210	byFrequency	TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr12:99119209T>C	ENST00000551964.1	+	25	4083	c.3347T>C	c.(3346-3348)cTc>cCc	p.L1116P	APAF1_ENST00000550527.1_Missense_Mutation_p.L1105P|APAF1_ENST00000339433.3_Intron|APAF1_ENST00000547045.1_Missense_Mutation_p.L1073P|APAF1_ENST00000359972.2_Missense_Mutation_p.L1062P|APAF1_ENST00000357310.1_Missense_Mutation_p.L1073P|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000549007.1_Intron|APAF1_ENST00000552268.1_Intron	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	1116					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	AGTTTTGATCTCCTTTTGCCA	0.458													T|||	7	0.00139776	8e-04	0.0043	5008	,	,		22734	0		0.002	False		,,,				2504	0.001					ENST00000357310.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42						c.(3217-3219)cTc>cCc		apoptotic peptidase activating factor 1	Adenosine triphosphate(DB00171)	T	PRO/LEU,PRO/LEU,PRO/LEU,PRO/LEU,	1,4405	2.1+/-5.4	0,1,2202	118	103	108		3185,3314,3347,3218,	-4.6	0.0	12	dbSNP_134	108	14,8586	9.8+/-36.6	0,14,4286	yes	missense,missense,missense,missense,intron	APAF1	NM_001160.2,NM_013229.2,NM_181861.1,NM_181868.1,NM_181869.1	98,98,98,98,	0,15,6488	CC,CT,TT		0.1628,0.0227,0.1153	benign,benign,benign,benign,	1062/1195,1105/1238,1116/1249,1073/1206,	99119209	15,12991	2203	4300	6503	SO:0001583	missense	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99119209T>C	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"WD repeat domain containing"	576	protein-coding gene	gene with protein product		602233	"apoptotic protease activating factor", "apoptotic peptidase activating factor"			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.3347T>C	12.37:g.99119209T>C	ENSP00000448165:p.Leu1116Pro					APAF1_ENST00000552268.1_Intron|APAF1_ENST00000359972.2_Missense_Mutation_p.L1062P|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000547045.1_Missense_Mutation_p.L1073P|APAF1_ENST00000551964.1_Missense_Mutation_p.L1116P|APAF1_ENST00000339433.3_Intron|APAF1_ENST00000550527.1_Missense_Mutation_p.L1105P|APAF1_ENST00000549007.1_Intron	p.L1073P	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN			24	3795	+			1116					B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	37	c.3218T>C	CCDS9069.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	T	9.547	1.114909	0.20795	2.27E-4	0.001628	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000550527;ENST00000547045	T;T;T;T;T	0.81078	-1.45;-1.45;2.27;-1.45;2.27	6.06	-4.59	0.03400	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.687775	0.15336	N	0.267778	T	0.63931	0.2553	N	0.11154	0.105	0.20703	N	0.999869	P;P;B;B	0.44006	0.824;0.594;0.043;0.38	P;B;B;B	0.50490	0.642;0.242;0.008;0.075	T	0.59521	-0.7439	10	0.45353	T	0.12	-0.0878	3.8289	0.08865	0.5149:0.067:0.2513:0.1668	.	1073;1062;1116;1105	O14727-4;O14727-3;O14727;O14727-2	.;.;APAF_HUMAN;.	P	1116;1062;1073;1105;1073	ENSP00000448165:L1116P;ENSP00000353059:L1062P;ENSP00000349862:L1073P;ENSP00000448449:L1105P;ENSP00000449791:L1073P	ENSP00000349862:L1073P	L	+	2	0	APAF1	97643340	0.000000	0.05858	0.003000	0.11579	0.017000	0.09413	-0.213000	0.09305	-0.386000	0.07821	-1.168000	0.01747	CTC		0.458	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		4	73	0	0	0	1	0	4	73					C	99119209	T	C	99119209	3	2	346	1	0	0	0	0	1	0	0	0	755	1551	54	3	3441	3	APAF1	12	99119209	Missense_Mutation	SNP	T	TCGA-EM-A4FO-01A-11D-A257-08		99119209	34732686	10	7382											
RNF10	9921	broad.mit.edu	37	chr12	121001322	121001322	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttggagttagcagatgacaAtcttaaagaggggaccattt	11	6	1	3			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr12:121001322A>G	ENST00000325954.4	+	9	1888	c.1427A>G	c.(1426-1428)aAt>aGt	p.N476S	RNF10_ENST00000413266.2_Missense_Mutation_p.N481S	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	476					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCAGATGACAATCTTAAAGAG	0.527																																						ENST00000325954.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27						c.(1426-1428)aAt>aGt		ring finger protein 10							78	73	74					12																	121001322		2203	4300	6503	SO:0001583	missense	9921				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:121001322A>G	AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"RING-type (C3HC4) zinc fingers"	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.1427A>G	12.37:g.121001322A>G	ENSP00000322242:p.Asn476Ser					RNF10_ENST00000413266.2_Missense_Mutation_p.N481S	p.N476S	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN			9	1888	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		476					Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	ENST00000325954.4	37	c.1427A>G	CCDS9201.1	.	.	.	.	.	.	.	.	.	.	A	7.324	0.617544	0.14129	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266;ENST00000540046	T;T	0.39406	1.08;1.08	5.98	-4.23	0.03789	.	0.610401	0.18829	N	0.130004	T	0.16685	0.0401	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.34850	-0.9812	10	0.06236	T	0.91	.	10.2854	0.43564	0.3484:0.12:0.5315:0.0	.	481;476	Q8N5U6-2;Q8N5U6	.;RNF10_HUMAN	S	476;476;481;22	ENSP00000322242:N476S;ENSP00000415682:N481S	ENSP00000322242:N476S	N	+	2	0	RNF10	119485705	0.012000	0.17670	0.926000	0.36857	0.646000	0.38490	-0.256000	0.08757	-0.772000	0.04602	-0.263000	0.10527	AAT		0.527	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4			11	41	0	0	0	1	0	11	41					G	121001322	A	G	121001322	3	3	346	1	0	0	0	0	1	0	0	0	13422	101	4	3	1461	3	RNF10	12	121001322	Missense_Mutation	SNP	A	TCGA-EM-A4FO-01A-11D-A257-08	21882113	121001322	12850573	11	7383											
DEGS2	123099	broad.mit.edu	37	chr14	100615601	100615601	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcacggccttggggtggaCgcagagcggccgtagtgagt	19	9	1	2	rs184833633	byFrequency	TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr14:100615601C>T	ENST00000305631.5	-	2	1104	c.529G>A	c.(529-531)Gtc>Atc	p.V177I	DEGS2_ENST00000553834.1_Intron|DEGS2_ENST00000557117.1_5'UTR	NM_206918.2	NP_996801.2			delta(4)-desaturase, sphingolipid 2											breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				TTGGGGTGGACGCAGAGCGGC	0.667													C|||	3	0.000599042	0.0015	0.0014	5008	,	,		16456	0		0	False		,,,				2504	0					ENST00000305631.5																			0				breast(1)|lung(6)|skin(1)	8						c.(529-531)Gtc>Atc		delta(4)-desaturase, sphingolipid 2							37	41	39					14																	100615601		2203	4296	6499	SO:0001583	missense	123099				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity	g.chr14:100615601C>T		CCDS9956.1	14q32.2	2013-09-02	2011-12-09	2004-12-14	ENSG00000168350	ENSG00000168350		"Fatty acid desaturases"	20113	protein-coding gene	gene with protein product	"sphingolipid delta(4)-desaturase 2", "dihydroceramide desaturase 2"	610862	"chromosome 14 open reading frame 66", "degenerative spermatocyte homolog 2, lipid desaturase (Drosophila)"	C14orf66			Standard	NM_206918		Approved	DES2, FADS8	uc001ygx.2	Q6QHC5	OTTHUMG00000171537	ENST00000305631.5:c.529G>A	14.37:g.100615601C>T	ENSP00000307126:p.Val177Ile					DEGS2_ENST00000557117.1_5'UTR|DEGS2_ENST00000553834.1_Intron	p.V177I	NM_206918.2	NP_996801.2	Q6QHC5	DEGS2_HUMAN			2	1104	-		Melanoma(154;0.212)	177						Missense_Mutation	SNP	ENST00000305631.5	37	c.529G>A	CCDS9956.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	5.922	0.354217	0.11182	.	.	ENSG00000168350	ENST00000305631	T	0.16897	2.31	4.62	3.66	0.41972	Fatty acid desaturase, type 1 (1);	0.116848	0.56097	D	0.000022	T	0.09905	0.0243	N	0.13327	0.33	0.80722	D	1	P	0.51653	0.947	B	0.42851	0.4	T	0.14117	-1.0484	10	0.07990	T	0.79	-13.3503	14.5123	0.67797	0.1468:0.8532:0.0:0.0	.	177	Q6QHC5	DEGS2_HUMAN	I	177	ENSP00000307126:V177I	ENSP00000307126:V177I	V	-	1	0	DEGS2	99685354	1.000000	0.71417	0.959000	0.39883	0.043000	0.13939	4.845000	0.62853	2.273000	0.75805	0.561000	0.74099	GTC		0.667	DEGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414003.1	NM_206918		10	32	0	0	0	1	0	10	32					T	100615601	C	T	100615601	3	4	346	1	0	0	0	0	1	0	0	0	4423	536	19	1	450	1	DEGS2	14	100615601	Missense_Mutation	SNP	C	TCGA-EM-A4FO-01A-11D-A257-08		100615601	6733939	12	7384											
NETO1	81832	broad.mit.edu	37	chr18	70417314	70417314	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccgctggacggctttatcGtgtctggacagcctgtgact	13	11	1	1	rs144601570	byFrequency	TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr18:70417314G>A	ENST00000327305.6	-	9	2181	c.1524C>T	c.(1522-1524)caC>caT	p.H508H	NETO1_ENST00000299430.2_Silent_p.H507H|RNA5SP460_ENST00000516789.1_RNA|NETO1_ENST00000583169.1_Silent_p.H508H	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	508					memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CGGCTTTATCGTGTCTGGACA	0.438																																						ENST00000327305.6																			0				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63						c.(1522-1524)caC>caT		neuropilin (NRP) and tolloid (TLL)-like 1		G	,	0,4406		0,0,2203	93	81	85		1524,1524	2.6	1.0	18	dbSNP_134	85	2,8598	3.0+/-9.4	0,2,4298	no	coding-synonymous,coding-synonymous	NETO1	NM_001201465.1,NM_138966.3	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	508/534,508/534	70417314	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70417314G>A	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.1524C>T	18.37:g.70417314G>A						NETO1_ENST00000583169.1_Silent_p.H508H|NETO1_ENST00000299430.2_Silent_p.H507H	p.H508H	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	9	2181	-		Esophageal squamous(42;0.129)	508					Q86W85|Q8ND78|Q8TDF4	Silent	SNP	ENST00000327305.6	37	c.1524C>T	CCDS12000.1																																																																																				0.438	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		7	37	0	0	0	1	0	7	37					A	70417314	G	A	70417314	2	1	346	1	0	0	0	0	0	0	0	1	10339	1136	40	1		1	NETO1	18	70417314	Silent	SNP	G	TCGA-EM-A4FO-01A-11D-A257-08		70417314	7659934	13	7385											
BSG	682	broad.mit.edu	37	chr19	577919	577919	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gacacctgctcccagctctgGgacggcgcccggctggaccg	14	17	1	0			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr19:577919G>C	ENST00000333511.3	+	2	283	c.213G>C	c.(211-213)tgG>tgC	p.W71C	BSG_ENST00000574970.1_3'UTR|BSG_ENST00000545507.2_Intron|BSG_ENST00000353555.4_Intron|BSG_ENST00000346916.4_Intron	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	71					blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CCCAGCTCTGGGACGGCGCCC	0.687																																						ENST00000333511.3																			0				central_nervous_system(1)|endometrium(3)|lung(1)	5						c.(211-213)tgG>tgC		basigin							29	27	28					19																	577919		2197	4295	6492	SO:0001583	missense	682				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding	g.chr19:577919G>C	L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1116	protein-coding gene	gene with protein product	"Ok blood group"	109480	"basigin"	OK		8404035, 7812975	Standard	NM_198591		Approved	EMMPRIN, CD147	uc002loz.4	P35613		ENST00000333511.3:c.213G>C	19.37:g.577919G>C	ENSP00000333769:p.Trp71Cys					BSG_ENST00000545507.2_Intron|BSG_ENST00000353555.4_Intron|BSG_ENST00000346916.4_Intron|BSG_ENST00000574970.1_3'UTR	p.W71C	NM_001728.3	NP_001719.2	P35613	BASI_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)	2	283	+		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	71					A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Missense_Mutation	SNP	ENST00000333511.3	37	c.213G>C	CCDS12033.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.078425	0.55753	.	.	ENSG00000172270	ENST00000333511	T	0.02579	4.24	3.54	3.54	0.40534	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.156815	0.44688	U	0.000433	T	0.13713	0.0332	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.02553	-1.1142	10	0.39692	T	0.17	-12.971	14.0078	0.64475	0.0:0.0:1.0:0.0	.	71	P35613	BASI_HUMAN	C	71	ENSP00000333769:W71C	ENSP00000333769:W71C	W	+	3	0	BSG	528919	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.403000	0.44530	1.652000	0.50683	0.462000	0.41574	TGG		0.687	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438630.2	NM_001728		4	13	0	0	0	1	0	4	13					C	577919	G	C	577919	3	2	346	1	0	0	0	0	1	0	0	0	1529	1241	43	4	255	4	BSG	19	577919	Missense_Mutation	SNP	G	TCGA-EM-A4FO-01A-11D-A257-08		577919	58551064	14	7386											
PLCB1	23236	broad.mit.edu	37	chr20	8639291	8639291	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tactttatccacctctaaaaCaagagcaagtccaagtattg	5	10	1	1			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr20:8639291C>A	ENST00000338037.6	+	9	829	c.802C>A	c.(802-804)Caa>Aaa	p.Q268K	PLCB1_ENST00000378637.2_Missense_Mutation_p.Q268K|PLCB1_ENST00000378641.3_Missense_Mutation_p.Q268K	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	268					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ACCTCTAAAACAAGAGCAAGT	0.398																																						ENST00000378641.3																			0				NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						c.(802-804)Caa>Aaa		phospholipase C, beta 1 (phosphoinositide-specific)							126	114	118					20																	8639291		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8639291C>A	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.802C>A	20.37:g.8639291C>A	ENSP00000338185:p.Gln268Lys					PLCB1_ENST00000378637.2_Missense_Mutation_p.Q268K|PLCB1_ENST00000338037.6_Missense_Mutation_p.Q268K	p.Q268K	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN			9	1277	+			268					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.802C>A	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.755109	0.49362	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.15952	2.38;2.38;2.38	5.95	5.95	0.96441	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.160135	0.56097	D	0.000029	T	0.11707	0.0285	N	0.12746	0.255	0.36542	D	0.871375	B;B	0.29988	0.005;0.264	B;B	0.26416	0.022;0.069	T	0.24333	-1.0163	10	0.17369	T	0.5	.	20.3921	0.98947	0.0:1.0:0.0:0.0	.	268;268	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	K	268;268;268;188;188	ENSP00000367908:Q268K;ENSP00000338185:Q268K;ENSP00000367904:Q268K	ENSP00000338185:Q268K	Q	+	1	0	PLCB1	8587291	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.453000	0.44970	2.822000	0.97130	0.650000	0.86243	CAA		0.398	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			17	92	1	0	3.52763e-06	1	3.71831e-06	17	92					A	8639291	C	A	8639291	3	1	346	1	0	0	0	0	1	0	0	0	12027	479	17	4	836	4	PLCB1	20	8639291	Missense_Mutation	SNP	C	TCGA-EM-A4FO-01A-11D-A257-08		8639291	54386229	15	7387											
ENTPD6	955	broad.mit.edu	37	chr20	25198164	25198164	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggcctccccacccggCtacctgacggcactgcggat	11	18	0	1			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr20:25198164C>T	ENST00000376652.4	+	9	988	c.825C>T	c.(823-825)ggC>ggT	p.G275G	ENTPD6_ENST00000354989.5_Silent_p.G258G|Y_RNA_ENST00000365544.1_RNA|ENTPD6_ENST00000433259.2_Silent_p.G275G|ENTPD6_ENST00000360031.2_Silent_p.G274G			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	275					response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CCCCACCCGGCTACCTGACGG	0.552																																						ENST00000360031.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						c.(820-822)ggC>ggT		ectonucleoside triphosphate diphosphohydrolase 6 (putative)							98	95	96					20																	25198164		2203	4300	6503	SO:0001819	synonymous_variant	0					Golgi membrane|integral to membrane	nucleoside-diphosphatase activity	g.chr20:25198164C>T	AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"interleukin 6 signal transducer-2"	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.825C>T	20.37:g.25198164C>T						ENTPD6_ENST00000433259.2_Silent_p.G275G|ENTPD6_ENST00000376652.4_Silent_p.G275G|ENTPD6_ENST00000354989.5_Silent_p.G258G	p.G274G	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN			9	1004	+			275					A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Silent	SNP	ENST00000376652.4	37	c.822C>T	CCDS13170.1	.	.	.	.	.	.	.	.	.	.	c	0.310	-0.968236	0.02232	.	.	ENSG00000197586	ENST00000433417;ENST00000427553;ENST00000447877	.	.	.	5.71	-0.05	0.13832	.	.	.	.	.	T	0.42381	0.1200	.	.	.	0.35762	D	0.820267	.	.	.	.	.	.	T	0.44159	-0.9346	4	.	.	.	-18.1316	4.0851	0.09943	0.1021:0.5412:0.1449:0.2118	.	.	.	.	V	196;133;168	.	.	A	+	2	0	ENTPD6	25146164	0.946000	0.32159	0.180000	0.23079	0.004000	0.04260	0.017000	0.13399	0.373000	0.24621	-1.402000	0.01139	GCT		0.552	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078414.2			14	83	0	0	0	1	0	14	83					T	25198164	C	T	25198164	2	4	346	1	0	0	0	0	0	0	0	1	5143	784	28	2		2	ENTPD6	20	25198164	Silent	SNP	C	TCGA-EM-A4FO-01A-11D-A257-08	16558873	25198164	37827356	16	7388											
OTUD5	55593	broad.mit.edu	37	chrX	48781191	48781191	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctggggaagggggcttcaTgcccaattcagcatgcagct	14	11	2	0			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chrX:48781191T>C	ENST00000156084.4	-	7	1477	c.1417A>G	c.(1417-1419)Atg>Gtg	p.M473V	OTUD5_ENST00000428668.2_Missense_Mutation_p.M251V|OTUD5_ENST00000396743.3_Missense_Mutation_p.M468V|OTUD5_ENST00000484499.1_5'Flank|OTUD5_ENST00000376488.3_Missense_Mutation_p.M468V	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU deubiquitinase 5	473					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)	ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						GGGGGCTTCATGCCCAATTCA	0.617																																						ENST00000156084.4																			0				endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						c.(1417-1419)Atg>Gtg		OTU domain containing 5							62	60	61					X																	48781191		2203	4300	6503	SO:0001583	missense	55593				negative regulation of type I interferon production		cysteine-type peptidase activity	g.chrX:48781191T>C		CCDS14313.1, CCDS48104.1, CCDS48105.1	Xp11.23	2014-06-09	2014-02-24		ENSG00000068308	ENSG00000068308		"OTU domain containing"	25402	protein-coding gene	gene with protein product		300713	"OTU domain containing 5"			24143256	Standard	NM_001136157		Approved	DKFZp761A052, DUBA	uc004dlu.3	Q96G74	OTTHUMG00000024130	ENST00000156084.4:c.1417A>G	X.37:g.48781191T>C	ENSP00000156084:p.Met473Val					OTUD5_ENST00000428668.2_Missense_Mutation_p.M251V|OTUD5_ENST00000396743.3_Missense_Mutation_p.M468V|OTUD5_ENST00000376488.3_Missense_Mutation_p.M468V	p.M473V	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN			7	1477	-			473					B4DGG7|G5E9D7|Q4KMN9|Q8N6T5|Q9H650|Q9H9U0|Q9NT65	Missense_Mutation	SNP	ENST00000156084.4	37	c.1417A>G	CCDS14313.1	.	.	.	.	.	.	.	.	.	.	T	3.462	-0.109766	0.06924	.	.	ENSG00000068308	ENST00000396743;ENST00000453548;ENST00000455452;ENST00000156084;ENST00000376488;ENST00000428668	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	4.38	4.38	0.52667	.	0.382773	0.26196	N	0.025762	T	0.17280	0.0415	N	0.04508	-0.205	0.19300	N	0.999971	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.13575	-1.0504	10	0.17832	T	0.49	-1.6895	5.7061	0.17909	0.0:0.1169:0.0:0.8831	.	251;473;468	B4DGG7;Q96G74;G5E9D7	.;OTUD5_HUMAN;.	V	468;444;346;473;468;251	ENSP00000379969:M468V;ENSP00000390767:M346V;ENSP00000156084:M473V;ENSP00000365671:M468V;ENSP00000401629:M251V	ENSP00000156084:M473V	M	-	1	0	OTUD5	48666135	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	1.469000	0.35343	1.944000	0.56390	0.425000	0.28330	ATG		0.617	OTUD5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000060799.1	NM_017602		5	17	0	0	0	1	0	5	17					C	48781191	T	C	48781191	3	2	346	1	0	0	0	0	1	0	0	0	11315	1464	51	3	310	3	OTUD5	23	48781191	Missense_Mutation	SNP	T	TCGA-EM-A4FO-01A-11D-A257-08		48781191	106489369	17	7389											
TMSB15A	11013	broad.mit.edu	37	chrX	101770063	101770063	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgacctgtcaaacttctccActtccgacaagtctggctta	6	13	3	1			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chrX:101770063A>T	ENST00000289373.4	-	2	164	c.29T>A	c.(28-30)gTg>gAg	p.V10E		NM_021992.2	NP_068832.1	P0CG34	TB15A_HUMAN	thymosin beta 15a	10					actin cytoskeleton organization (GO:0030036)|sequestering of actin monomers (GO:0042989)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				large_intestine(1)|lung(1)	2						AAACTTCTCCACTTCCGACAA	0.383																																						ENST00000289373.4																			0				large_intestine(1)|lung(1)	2						c.(28-30)gTg>gAg		thymosin beta 15a							114	107	110					X																	101770063		2203	4300	6503	SO:0001583	missense	11013				actin cytoskeleton organization|sequestering of actin monomers	cytoplasm|cytoskeleton	actin binding	g.chrX:101770063A>T	D82345	CCDS14498.1	Xq21.33-q22.3	2009-01-12	2009-01-12	2009-01-12	ENSG00000158164	ENSG00000158164			30744	protein-coding gene	gene with protein product		601587	"thymosin-like 8"	TMSL8		9039501, 17567946	Standard	NM_021992		Approved	TMSNB	uc004eje.3	P0CG34	OTTHUMG00000022054	ENST00000289373.4:c.29T>A	X.37:g.101770063A>T	ENSP00000289373:p.Val10Glu						p.V10E	NM_021992.2	NP_068832.1	P0CG34	TB15A_HUMAN			2	164	-			10					A8K614|Q99406	Missense_Mutation	SNP	ENST00000289373.4	37	c.29T>A	CCDS14498.1	.	.	.	.	.	.	.	.	.	.	A	13.03	2.115521	0.37339	.	.	ENSG00000158164	ENST00000289373	T	0.60920	0.15	3.65	3.65	0.41850	.	0.000000	0.45606	D	0.000354	T	0.71525	0.3350	.	.	.	0.31450	N	0.670858	D	0.67145	0.996	D	0.69824	0.966	T	0.75144	-0.3421	9	0.87932	D	0	-9.6759	9.4926	0.38969	1.0:0.0:0.0:0.0	.	10	P0CG34	TB15A_HUMAN	E	10	ENSP00000289373:V10E	ENSP00000289373:V10E	V	-	2	0	TMSB15A	101656719	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	4.923000	0.63412	1.346000	0.45694	0.430000	0.28490	GTG		0.383	TMSB15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057621.1	NM_021992		15	34	0	0	0	1	0	15	34					T	101770063	A	T	101770063	3	4	346	1	0	0	0	0	1	0	0	0	16252	159	6	5	116	5	TMSB15A	23	101770063	Missense_Mutation	SNP	A	TCGA-EM-A4FO-01A-11D-A257-08	52988872	101770063	53500497	18	7390											
COL8A2	1296	broad.mit.edu	37	chr1	36564482	36564482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtccttttgggcccacagctCctggctcccccctggggcct	11	18	0	0			TCGA-EM-A4FQ-01A-11D-A257-08	TCGA-EM-A4FQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	396f1d6b-5434-4c77-908c-24cdb5af5671	9172fce9-fc68-4679-b6b2-019262cb0f09	g.chr1:36564482C>T	ENST00000397799.1	-	4	1024	c.800G>A	c.(799-801)gGa>gAa	p.G267E	COL8A2_ENST00000303143.4_Missense_Mutation_p.G267E|COL8A2_ENST00000481785.1_Missense_Mutation_p.G202E			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	267	Triple-helical region.				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCCCACAGCTCCTGGCTCCCC	0.662																																						ENST00000397799.1																			0				NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(799-801)gGa>gAa		collagen, type VIII, alpha 2							15	18	17					1																	36564482		2195	4291	6486	SO:0001583	missense	1296				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr1:36564482C>T	M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"Collagens"	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.800G>A	1.37:g.36564482C>T	ENSP00000380901:p.Gly267Glu					COL8A2_ENST00000481785.1_Missense_Mutation_p.G202E|COL8A2_ENST00000303143.4_Missense_Mutation_p.G267E	p.G267E			P25067	CO8A2_HUMAN			4	1024	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	267			Triple-helical region.		Q5JV31|Q8TEJ5	Missense_Mutation	SNP	ENST00000397799.1	37	c.800G>A	CCDS403.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.184875	0.38609	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000481785	D;D;D	0.97924	-4.61;-4.61;-4.61	3.78	3.78	0.43462	.	0.000000	0.85682	D	0.000000	D	0.99312	0.9759	H	0.99273	4.495	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98227	1.0481	10	0.72032	D	0.01	.	15.8236	0.78678	0.0:1.0:0.0:0.0	.	267	P25067	CO8A2_HUMAN	E	267;267;202	ENSP00000305913:G267E;ENSP00000380901:G267E;ENSP00000436433:G202E	ENSP00000305913:G267E	G	-	2	0	COL8A2	36337069	0.999000	0.42202	0.977000	0.42913	0.470000	0.32858	5.903000	0.69877	1.948000	0.56530	0.205000	0.17691	GGA		0.662	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	NM_005202		11	9	0	0	0	1	0	11	9					T	36564482	C	T	36564482	3	4	347	1	0	0	0	0	1	0	0	0	3706	855	30	2	1315	2	COL8A2	1	36564482	Missense_Mutation	SNP	C	TCGA-EM-A4FQ-01A-11D-A257-08		36564482	212686139	1	7391											
CTBS	1486	broad.mit.edu	37	chr1	85028950	85028950	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagtcttactttatagttaTaataaggagcccgctgatct	7	7	2	1			TCGA-EM-A4FQ-01A-11D-A257-08	TCGA-EM-A4FQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	396f1d6b-5434-4c77-908c-24cdb5af5671	9172fce9-fc68-4679-b6b2-019262cb0f09	g.chr1:85028950T>C	ENST00000370630.5	-	6	995	c.947A>G	c.(946-948)tAt>tGt	p.Y316C	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	316					chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		TTTATAGTTATAATAAGGAGC	0.323																																						ENST00000370630.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9						c.(946-948)tAt>tGt		chitobiase, di-N-acetyl-							41	47	45					1																	85028950		2203	4299	6502	SO:0001583	missense	1486					lysosome	cation binding	g.chr1:85028950T>C	M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.947A>G	1.37:g.85028950T>C	ENSP00000359664:p.Tyr316Cys					CTBS_ENST00000477677.1_5'UTR	p.Y316C	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN		all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)	6	995	-			316					Q5VX50	Missense_Mutation	SNP	ENST00000370630.5	37	c.947A>G	CCDS698.1	.	.	.	.	.	.	.	.	.	.	T	12.70	2.017626	0.35606	.	.	ENSG00000117151	ENST00000370630	T	0.04970	3.52	5.5	3.11	0.35812	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.178570	0.50627	D	0.000102	T	0.04679	0.0127	M	0.80028	2.48	0.49915	D	0.999835	P	0.38223	0.623	B	0.37833	0.259	T	0.18366	-1.0339	10	0.38643	T	0.18	-10.1914	10.336	0.43850	0.3772:0.0:0.0:0.6228	.	316	Q01459	DIAC_HUMAN	C	316	ENSP00000359664:Y316C	ENSP00000359659:Y225C	Y	-	2	0	CTBS	84801538	1.000000	0.71417	0.996000	0.52242	0.893000	0.52053	0.958000	0.29227	0.348000	0.23949	-0.344000	0.07964	TAT		0.323	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027457.2	NM_004388		10	19	0	0	0	1	0	10	19					C	85028950	T	C	85028950	3	2	347	1	0	0	0	0	1	0	0	0	3999	1406	49	3	218	3	CTBS	1	85028950	Missense_Mutation	SNP	T	TCGA-EM-A4FQ-01A-11D-A257-08	48464468	85028950	164221671	2	7392											
FMO1	2326	broad.mit.edu	37	chr1	171249978	171249978	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagccgaatctttgactcGggctacccatgggacatggt	11	11	2	1			TCGA-EM-A4FQ-01A-11D-A257-08	TCGA-EM-A4FQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	396f1d6b-5434-4c77-908c-24cdb5af5671	9172fce9-fc68-4679-b6b2-019262cb0f09	g.chr1:171249978G>A	ENST00000354841.4	+	5	812	c.681G>A	c.(679-681)tcG>tcA	p.S227S	FMO1_ENST00000402921.2_Silent_p.S164S|FMO1_ENST00000367750.3_Silent_p.S227S|FMO1_ENST00000469112.1_3'UTR	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	227			S -> T. {ECO:0000269|Ref.2}.		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)			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)	TCTTTGACTCGGGCTACCCAT	0.502																																						ENST00000354841.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27						c.(679-681)tcG>tcA		flavin containing monooxygenase 1							109	93	98					1																	171249978		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:171249978G>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.681G>A	1.37:g.171249978G>A						FMO1_ENST00000367750.3_Silent_p.S227S|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Silent_p.S164S	p.S227S			Q01740	FMO1_HUMAN			5	812	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		227		S -> T.			A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Silent	SNP	ENST00000354841.4	37	c.681G>A	CCDS1294.1																																																																																				0.502	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		4	53	0	0	0	1	0	4	53					A	171249978	G	A	171249978	2	1	347	1	0	0	0	0	0	0	0	1	5954	1103	39	1		1	FMO1	1	171249978	Silent	SNP	G	TCGA-EM-A4FQ-01A-11D-A257-08	86221028	171249978	78000643	3	7393											
TGFBR2	7048	broad.mit.edu	37	chr3	30713340	30713340	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgccatcatcctggaagAtgaccgctctgacatcagct	9	13	3	3			TCGA-EM-A4FQ-01A-11D-A257-08	TCGA-EM-A4FQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	396f1d6b-5434-4c77-908c-24cdb5af5671	9172fce9-fc68-4679-b6b2-019262cb0f09	g.chr3:30713340A>G	ENST00000295754.5	+	4	1047	c.665A>G	c.(664-666)gAt>gGt	p.D222G	TGFBR2_ENST00000359013.4_Missense_Mutation_p.D247G	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	222					activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						ATCCTGGAAGATGACCGCTCT	0.562																																						ENST00000295754.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						c.(664-666)gAt>gGt		transforming growth factor, beta receptor II (70/80kDa)							86	66	73					3																	30713340		2203	4300	6503	SO:0001583	missense	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30713340A>G		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"transforming growth factor, beta receptor II (70-80kD)"	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.665A>G	3.37:g.30713340A>G	ENSP00000295754:p.Asp222Gly					TGFBR2_ENST00000359013.4_Missense_Mutation_p.D247G	p.D222G	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN			4	1047	+			222					B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	c.665A>G	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	A	16.27	3.076764	0.55753	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	D;D	0.85629	-2.0;-2.01	5.43	5.43	0.79202	.	0.086607	0.85682	D	0.000000	D	0.85287	0.5662	M	0.70275	2.135	0.80722	D	1	B;B	0.25390	0.125;0.028	B;B	0.28553	0.091;0.037	D	0.83477	0.0062	10	0.51188	T	0.08	.	15.47	0.75434	1.0:0.0:0.0:0.0	.	222;247	P37173;D2JYI1	TGFR2_HUMAN;.	G	222;247;88	ENSP00000295754:D222G;ENSP00000351905:D247G	ENSP00000295754:D222G	D	+	2	0	TGFBR2	30688344	1.000000	0.71417	0.935000	0.37517	0.846000	0.48090	9.326000	0.96389	2.043000	0.60533	0.533000	0.62120	GAT		0.562	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			17	24	0	0	0	1	0	17	24					G	30713340	A	G	30713340	3	3	347	1	0	0	0	0	1	0	0	0	15819	333	12	3	758	3	TGFBR2	3	30713340	Missense_Mutation	SNP	A	TCGA-EM-A4FQ-01A-11D-A257-08		30713340	167309090	4	7394											
TRPC7	57113	broad.mit.edu	37	chr5	135651397	135651397	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaattgcttccacctcttctGtgtctcggcacaggtccagc	8	14	3	0			TCGA-EM-A4FQ-01A-11D-A257-08	TCGA-EM-A4FQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	396f1d6b-5434-4c77-908c-24cdb5af5671	9172fce9-fc68-4679-b6b2-019262cb0f09	g.chr5:135651397G>C	ENST00000513104.1	-	3	1133	c.851C>G	c.(850-852)aCa>aGa	p.T284R	TRPC7_ENST00000426057.2_Intron|TRPC7-AS2_ENST00000513958.1_RNA|TRPC7_ENST00000355180.3_Intron	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	284					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CACCTCTTCTGTGTCTCGGCA	0.463																																						ENST00000513104.1																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(850-852)aCa>aGa		transient receptor potential cation channel, subfamily C, member 7							90	94	93					5																	135651397		2071	4232	6303	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135651397G>C	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"Voltage-gated ion channels / Transient receptor potential cation channels"	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.851C>G	5.37:g.135651397G>C	ENSP00000426070:p.Thr284Arg					TRPC7_ENST00000426057.2_Intron|TRPC7_ENST00000355180.3_Intron|TRPC7-AS2_ENST00000513958.1_RNA	p.T284R	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		3	1133	-			284					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.851C>G	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.311550|5.311550	0.95655|0.95655	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000502753|ENST00000513104;ENST00000265193	.|T	.|0.63096	.|-0.02	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	.|0.049913	.|0.85682	.|D	.|0.000000	T|T	0.77772|0.77772	0.4180|0.4180	M|M	0.76170|0.76170	2.325|2.325	0.80722|0.80722	D|D	1|1	.|P;P	.|0.48503	.|0.911;0.837	.|P;P	.|0.57620	.|0.824;0.707	T|T	0.78679|0.78679	-0.2110|-0.2110	5|10	.|0.87932	.|D	.|0	-12.7127|-12.7127	19.8946|19.8946	0.96949|0.96949	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|284;284	.|Q70T25;Q9HCX4	.|.;TRPC7_HUMAN	Q|R	283|284	.|ENSP00000426070:T284R	.|ENSP00000265193:T284R	H|T	-|-	3|2	2|0	TRPC7|TRPC7	135679296|135679296	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.657000|9.657000	0.98554|0.98554	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CAC|ACA		0.463	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		13	28	0	0	0	1	0	13	28					C	135651397	G	C	135651397	3	2	347	1	0	0	0	0	1	0	0	0	16581	1377	48	4	1777	4	TRPC7	5	135651397	Missense_Mutation	SNP	G	TCGA-EM-A4FQ-01A-11D-A257-08		135651397	45263863	5	7395											
DNAH8	1769	broad.mit.edu	37	chr6	38820530	38820530	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	catttcatgcaaaagactatGatcgcatcatggccgtcata	7	10	3	2	rs61758415	byFrequency	TCGA-EM-A4FQ-01A-11D-A257-08	TCGA-EM-A4FQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	396f1d6b-5434-4c77-908c-24cdb5af5671	9172fce9-fc68-4679-b6b2-019262cb0f09	g.chr6:38820530G>C	ENST00000359357.3	+	38	5130	c.4876G>C	c.(4876-4878)Gat>Cat	p.D1626H	DNAH8_ENST00000441566.1_Missense_Mutation_p.D1626H|DNAH8_ENST00000449981.2_Missense_Mutation_p.D1843H			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1626					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						AAAAGACTATGATCGCATCAT	0.373													G|||	16	0.00319489	0.0113	0	5008	,	,		16552	0		0.001	False		,,,				2504	0					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.(4876-4878)Gat>Cat		dynein, axonemal, heavy chain 8		G	HIS/ASP	28,4378	34.3+/-65.2	0,28,2175	102	100	101		5527	4.9	1.0	6	dbSNP_129	101	0,8600		0,0,4300	yes	missense	DNAH8	NM_001206927.1	81	0,28,6475	CC,CG,GG		0.0,0.6355,0.2153	probably-damaging	1843/4708	38820530	28,12978	2203	4300	6503	SO:0001583	missense	1769							g.chr6:38820530G>C	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.4876G>C	6.37:g.38820530G>C	ENSP00000352312:p.Asp1626His					DNAH8_ENST00000449981.2_Missense_Mutation_p.D1843H|DNAH8_ENST00000441566.1_Missense_Mutation_p.D1626H	p.D1626H							38	5130	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.4876G>C		5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	17.59	3.428025	0.62733	0.006355	0.0	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.61627	0.09;0.09;0.09	4.93	4.93	0.64822	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	T	0.69097	0.3073	M	0.86864	2.845	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.69610	-0.5099	10	0.14252	T	0.57	.	13.48	0.61330	0.0:0.0:0.8435:0.1564	rs61758415	1626	Q96JB1	DYH8_HUMAN	H	1831;1831;1626;1626	ENSP00000333363:D1831H;ENSP00000352312:D1626H;ENSP00000402294:D1626H	ENSP00000333363:D1831H	D	+	1	0	DNAH8	38928508	1.000000	0.71417	0.993000	0.49108	0.742000	0.42306	6.367000	0.73099	2.451000	0.82905	0.467000	0.42956	GAT		0.373	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		3	41	0	0	0	1	0	3	41					C	38820530	G	C	38820530	3	2	347	1	0	0	0	0	1	0	0	0	4607	1290	45	4	5018	4	DNAH8	6	38820530	Missense_Mutation	SNP	G	TCGA-EM-A4FQ-01A-11D-A257-08		38820530	132294537	6	7396											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A4FQ-01A-11D-A257-08	TCGA-EM-A4FQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	396f1d6b-5434-4c77-908c-24cdb5af5671	9172fce9-fc68-4679-b6b2-019262cb0f09	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		26	35	0	0	0	1	0	26	35					T	140453136	A	T	140453136	3	4	347	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A4FQ-01A-11D-A257-08		140453136	18685527	7	7397											
AHNAK	79026	broad.mit.edu	37	chr11	62295440	62295440	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggcacctccacatccacaCtggggcctgttaaatctccc	7	17	1	0	rs199589476		TCGA-EM-A4FQ-01A-11D-A257-08	TCGA-EM-A4FQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	396f1d6b-5434-4c77-908c-24cdb5af5671	9172fce9-fc68-4679-b6b2-019262cb0f09	g.chr11:62295440C>A	ENST00000378024.4	-	5	6723	c.6449G>T	c.(6448-6450)aGt>aTt	p.S2150I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2150					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CACATCCACACTGGGGCCTGT	0.498																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(6448-6450)aGt>aTt		AHNAK nucleoprotein							169	181	177					11																	62295440		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62295440C>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.6449G>T	11.37:g.62295440C>A	ENSP00000367263:p.Ser2150Ile					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.S2150I	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	6723	-		Melanoma(852;0.155)	2150					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.6449G>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	10.96	1.499524	0.26861	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.05649	3.41	3.64	-7.28	0.01456	.	.	.	.	.	T	0.08268	0.0206	M	0.79475	2.455	0.09310	N	1	B	0.18461	0.028	B	0.20767	0.031	T	0.34825	-0.9813	9	0.56958	D	0.05	.	7.5697	0.27900	0.1218:0.1734:0.0:0.7048	.	2150	Q09666	AHNK_HUMAN	I	239;2150	ENSP00000367263:S2150I	ENSP00000244934:S239I	S	-	2	0	AHNAK	62052016	0.000000	0.05858	0.000000	0.03702	0.427000	0.31564	-2.589000	0.00900	-1.451000	0.01933	0.298000	0.19748	AGT		0.498	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		8	239	1	0	0.0381472	1	0.0392069	8	239					A	62295440	C	A	62295440	3	1	347	1	0	0	0	0	1	0	0	0	414	565	20	4	11343	4	AHNAK	11	62295440	Missense_Mutation	SNP	C	TCGA-EM-A4FQ-01A-11D-A257-08		62295440	72711076	8	7398											
SORL1	6653	broad.mit.edu	37	chr11	121429476	121429476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagtgcatagagcggatcaCgttcagtggccagcagcgct	15	10	2	1	rs143571823	byFrequency	TCGA-EM-A4FQ-01A-11D-A257-08	TCGA-EM-A4FQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	396f1d6b-5434-4c77-908c-24cdb5af5671	9172fce9-fc68-4679-b6b2-019262cb0f09	g.chr11:121429476C>T	ENST00000260197.7	+	20	2969	c.2840C>T	c.(2839-2841)aCg>aTg	p.T947M		NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	947					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GAGCGGATCACGTTCAGTGGC	0.552													C|||	17	0.00339457	0.0121	0.0014	5008	,	,		19818	0		0	False		,,,				2504	0					ENST00000260197.7																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(2839-2841)aCg>aTg		sortilin-related receptor, L(DLR class) A repeats containing		C	MET/THR	68,4338	62.9+/-100.1	0,68,2135	199	154	169		2840	3.5	0.0	11	dbSNP_134	169	0,8598		0,0,4299	yes	missense	SORL1	NM_003105.5	81	0,68,6434	TT,TC,CC		0.0,1.5433,0.5229	possibly-damaging	947/2215	121429476	68,12936	2203	4299	6502	SO:0001583	missense	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121429476C>T	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.2840C>T	11.37:g.121429476C>T	ENSP00000260197:p.Thr947Met						p.T947M	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	20	2969	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	947					B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.2840C>T	CCDS8436.1	6	0.0027472527472527475	5	0.01016260162601626	1	0.0027624309392265192	0	0.0	0	0.0	C	14.88	2.667791	0.47677	0.015433	0.0	ENSG00000137642	ENST00000260197	D	0.91407	-2.84	5.53	3.47	0.39725	Six-bladed beta-propeller, TolB-like (1);	0.704897	0.13521	N	0.381698	T	0.73892	0.3645	L	0.47716	1.5	0.80722	D	1	P	0.49358	0.923	B	0.34242	0.178	T	0.78949	-0.2002	10	0.87932	D	0	.	7.7073	0.28657	0.4056:0.481:0.1133:0.0	.	947	Q92673	SORL_HUMAN	M	947	ENSP00000260197:T947M	ENSP00000260197:T947M	T	+	2	0	SORL1	120934686	0.997000	0.39634	0.033000	0.17914	0.759000	0.43091	3.688000	0.54699	1.318000	0.45170	0.655000	0.94253	ACG		0.552	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		4	74	0	0	0	1	0	4	74					T	121429476	C	T	121429476	3	4	347	1	0	0	0	0	1	0	0	0	14934	536	19	1	2918	1	SORL1	11	121429476	Missense_Mutation	SNP	C	TCGA-EM-A4FQ-01A-11D-A257-08	59134036	121429476	13577040	9	7399											
DNAH10	196385	broad.mit.edu	37	chr12	124265687	124265687	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacaaccgtgggagtcacaTctggagaagtctctaattcc	10	10	3	1	rs11057353	byFrequency	TCGA-EM-A4FQ-01A-11D-A257-08	TCGA-EM-A4FQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	396f1d6b-5434-4c77-908c-24cdb5af5671	9172fce9-fc68-4679-b6b2-019262cb0f09	g.chr12:124265687T>C	ENST00000409039.3	+	6	524	c.499T>C	c.(499-501)Tct>Cct	p.S167P		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	167	Stem. {ECO:0000250}.		S -> P (in dbSNP:rs11057353).		microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGGAGTCACATCTGGAGAAGT	0.428													t|||	3572	0.713259	0.5348	0.7032	5008	,	,		16112	0.9573		0.6769	False		,,,				2504	0.7474					ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(499-501)Tct>Cct		dynein, axonemal, heavy chain 10			PRO/SER	2468,1938	614.5+/-392.4	674,1120,409	112	122	118		499	-10.6	0.0	12	dbSNP_120	118	5418,3182	652.9+/-401.0	1737,1944,619	yes	missense	DNAH10	NM_207437.3	74	2411,3064,1028	CC,CT,TT		37.0,43.9855,39.3664	benign	167/4472	124265687	7886,5120	2203	4300	6503	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124265687T>C	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.499T>C	12.37:g.124265687T>C	ENSP00000386770:p.Ser167Pro						p.S167P	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	6	524	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		167		S -> P (in dbSNP:rs11057353).	Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.499T>C	CCDS9255.2	1556	0.7124542124542125	263	0.5345528455284553	248	0.6850828729281768	541	0.9458041958041958	504	0.6649076517150396	t	9.468	1.094813	0.20471	0.560145	0.63	ENSG00000197653	ENST00000409039	T	0.22945	1.93	5.3	-10.6	0.00265	.	.	.	.	.	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.28522	-1.0041	8	0.25751	T	0.34	.	15.1095	0.72343	0.0:0.6112:0.2248:0.164	rs11057353;rs52789374;rs59091251;rs11057353	167	Q8IVF4	DYH10_HUMAN	P	167	ENSP00000386770:S167P	ENSP00000386770:S167P	S	+	1	0	DNAH10	122831640	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.199000	0.01238	-2.568000	0.00469	-0.696000	0.03686	TCT		0.428	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			6	113	0	0	0	1	0	6	113					C	124265687	T	C	124265687	3	2	347	1	0	0	0	0	1	0	0	0	4598	1435	50	3	521	3	DNAH10	12	124265687	Missense_Mutation	SNP	T	TCGA-EM-A4FQ-01A-11D-A257-08		124265687	9586208	10	7400											
NUP93	9688	broad.mit.edu	37	chr16	56782202	56782202	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctccttcagcaagctgaaCagcttgctgctgagactgag	11	11	1	3			TCGA-EM-A4FQ-01A-11D-A257-08	TCGA-EM-A4FQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	396f1d6b-5434-4c77-908c-24cdb5af5671	9172fce9-fc68-4679-b6b2-019262cb0f09	g.chr16:56782202C>T	ENST00000308159.5	+	2	164	c.43C>T	c.(43-45)Cag>Tag	p.Q15*	NUP93_ENST00000569842.1_Nonsense_Mutation_p.Q15*	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	15					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.Q15*(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GCAAGCTGAACAGCTTGCTGC	0.517																																					Colon(33;610 796 1305 1705 38917)	ENST00000569842.1																			1	Substitution - Nonsense(1)	p.Q15*(1)	endometrium(1)	breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(43-45)Cag>Tag		nucleoporin 93kDa							67	65	66					16																	56782202		2198	4300	6498	SO:0001587	stop_gained	9688				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr16:56782202C>T	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.43C>T	16.37:g.56782202C>T	ENSP00000310668:p.Gln15*					NUP93_ENST00000308159.5_Nonsense_Mutation_p.Q15*	p.Q15*			Q8N1F7	NUP93_HUMAN			2	139	+			15					B3KPQ8|Q14705	Nonsense_Mutation	SNP	ENST00000308159.5	37	c.43C>T	CCDS10769.1	.	.	.	.	.	.	.	.	.	.	C	40	8.003070	0.98605	.	.	ENSG00000102900	ENST00000308159	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.0968	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	15	.	ENSP00000310668:Q15X	Q	+	1	0	NUP93	55339703	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.681000	0.84073	2.937000	0.99478	0.650000	0.86243	CAG		0.517	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669		19	41	0	0	0	1	0	19	41					T	56782202	C	T	56782202	4	4	347	1	0	0	0	0	0	1	0	0	10772	479	17	2	45	2	NUP93	16	56782202	Nonsense_Mutation	SNP	C	TCGA-EM-A4FQ-01A-11D-A257-08		56782202	33572551	11	7401											
C16orf46	123775	broad.mit.edu	37	chr16	81095125	81095125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaaggggaggatggcgtgtCgttgaccatagggtgtttgg	20	4	0	1	rs370784988		TCGA-EM-A4FQ-01A-11D-A257-08	TCGA-EM-A4FQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	396f1d6b-5434-4c77-908c-24cdb5af5671	9172fce9-fc68-4679-b6b2-019262cb0f09	g.chr16:81095125C>T	ENST00000299578.5	-	4	1064	c.829G>A	c.(829-831)Gac>Aac	p.D277N	C16orf46_ENST00000378611.4_Missense_Mutation_p.D277N|RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000444657.3_5'Flank	NM_152337.2	NP_689550.2	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	277						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						GATGGCGTGTCGTTGACCATA	0.557													C|||	1	0.000199681	0	0	5008	,	,		17064	0		0	False		,,,				2504	0.001					ENST00000378611.4																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						c.(829-831)Gac>Aac		chromosome 16 open reading frame 46		C	ASN/ASP,ASN/ASP	0,4404		0,0,2202	147	132	137		829,829	-0.9	0.0	16		137	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	C16orf46	NM_001100873.1,NM_152337.2	23,23	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	277/389,277/396	81095125	1,13003	2202	4300	6502	SO:0001583	missense	123775							g.chr16:81095125C>T	BC064143	CCDS10932.1, CCDS42201.1	16q23.2	2012-10-09			ENSG00000166455	ENSG00000166455			26525	protein-coding gene	gene with protein product							Standard	NM_152337		Approved	FLJ32702	uc002fgc.4	Q6P387	OTTHUMG00000137629	ENST00000299578.5:c.829G>A	16.37:g.81095125C>T	ENSP00000299578:p.Asp277Asn					C16orf46_ENST00000299578.5_Missense_Mutation_p.D277N|RP11-303E16.8_ENST00000564536.1_RNA	p.D277N	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN			3	944	-			277					Q96MA7	Missense_Mutation	SNP	ENST00000299578.5	37	c.829G>A	CCDS10932.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.426097	0.25726	0.0	1.16E-4	ENSG00000166455	ENST00000378611;ENST00000444657;ENST00000299578	T;T	0.15372	2.43;2.43	5.57	-0.923	0.10465	.	0.904379	0.09486	N	0.795639	T	0.09555	0.0235	L	0.34521	1.04	0.09310	N	1	B;B	0.24132	0.098;0.098	B;B	0.16722	0.016;0.016	T	0.38001	-0.9681	10	0.24483	T	0.36	.	1.3906	0.02250	0.1518:0.4365:0.1284:0.2833	.	277;277	Q6P387-2;Q6P387	.;CP046_HUMAN	N	277;4;277	ENSP00000367874:D277N;ENSP00000299578:D277N	ENSP00000299578:D277N	D	-	1	0	C16orf46	79652626	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.121000	0.15667	-0.423000	0.07394	-0.993000	0.02533	GAC		0.557	C16orf46-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269054.2	NM_152337		48	93	0	0	0	1	0	48	93					T	81095125	C	T	81095125	3	4	347	1	0	0	0	0	1	0	0	0	1815	884	31	1	390	1	C16orf46	16	81095125	Missense_Mutation	SNP	C	TCGA-EM-A4FQ-01A-11D-A257-08	24312923	81095125	9259628	12	7402											
STON1	11037	broad.mit.edu	37	chr2	48809422	48809422	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcttttgtcaacatggcCtcattggcgcagaggtcatc	11	11	3	1	rs149386954	byFrequency	TCGA-EM-A4FR-01A-11D-A257-08	TCGA-EM-A4FR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cea715a5-b042-482e-9a2a-aa2781a086e2	b6b2661b-4529-47d8-84aa-cf750080d78b	g.chr2:48809422C>T	ENST00000406226.1	+	3	1845	c.1650C>T	c.(1648-1650)gcC>gcT	p.A550A	STON1-GTF2A1L_ENST00000309827.2_Silent_p.A550A|STON1-GTF2A1L_ENST00000394751.3_Silent_p.A550A|STON1_ENST00000404752.1_Silent_p.A550A|STON1-GTF2A1L_ENST00000405008.1_Silent_p.A550A|STON1-GTF2A1L_ENST00000394754.1_Silent_p.A550A|STON1-GTF2A1L_ENST00000402114.2_Silent_p.A550A|STON1_ENST00000309835.3_Silent_p.A550A	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	550	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCAACATGGCCTCATTGGCGC	0.468													C|||	28	0.00559105	0	0.0014	5008	,	,		20434	0		0.002	False		,,,				2504	0.0256					ENST00000309835.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37						c.(1648-1650)gcC>gcT		stonin 1		C	,,,,	1,4405		0,1,2202	156	152	153		1650,1650,1650,1650,1650	3.7	0.9	2	dbSNP_134	153	22,8578	16.0+/-53.3	1,20,4279	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	STON1,STON1-GTF2A1L	NM_001198593.1,NM_001198594.1,NM_001198595.1,NM_006873.3,NM_172311.2	,,,,	1,21,6481	TT,TC,CC		0.2558,0.0227,0.1768	,,,,	550/1159,550/1136,550/736,550/736,550/1183	48809422	23,12983	2203	4300	6503	SO:0001819	synonymous_variant	11037							g.chr2:48809422C>T	AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"stoned B homolog 1 (Drosophila)"	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.1650C>T	2.37:g.48809422C>T						STON1-GTF2A1L_ENST00000309827.2_Silent_p.A550A|STON1_ENST00000406226.1_Silent_p.A550A|STON1_ENST00000404752.1_Silent_p.A550A|STON1-GTF2A1L_ENST00000402114.2_Silent_p.A550A|STON1-GTF2A1L_ENST00000405008.1_Silent_p.A550A|STON1-GTF2A1L_ENST00000394754.1_Silent_p.A550A|STON1-GTF2A1L_ENST00000394751.3_Silent_p.A550A	p.A550A					Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	1660	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)						A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Silent	SNP	ENST00000406226.1	37	c.1650C>T	CCDS1841.1																																																																																				0.468	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873		6	125	0	0	0	1	0	6	125					T	48809422	C	T	48809422	2	4	348	1	0	0	0	0	0	0	0	1	15315	668	24	2		2	STON1	2	48809422	Silent	SNP	C	TCGA-EM-A4FR-01A-11D-A257-08		48809422	194389951	1	7403											
CLSTN2	64084	broad.mit.edu	37	chr3	140140038	140140038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatcctggtgaccgcctacGactgtggacagaagcccgct	12	13	0	3	rs375249688		TCGA-EM-A4FR-01A-11D-A257-08	TCGA-EM-A4FR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cea715a5-b042-482e-9a2a-aa2781a086e2	b6b2661b-4529-47d8-84aa-cf750080d78b	g.chr3:140140038G>A	ENST00000458420.3	+	5	899	c.709G>A	c.(709-711)Gac>Aac	p.D237N		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	237	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GACCGCCTACGACTGTGGACA	0.517										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	ENST00000458420.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						c.(709-711)Gac>Aac		calsyntenin 2		G	ASN/ASP	0,4406		0,0,2203	177	165	169		709	5.7	1.0	3		169	1,8599	1.2+/-3.3	0,1,4299	no	missense	CLSTN2	NM_022131.2	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	237/956	140140038	1,13005	2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140140038G>A	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"Cadherins / Cadherin-related"	17448	protein-coding gene	gene with protein product	"cadherin-related family member 13"	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.709G>A	3.37:g.140140038G>A	ENSP00000402460:p.Asp237Asn	HNSCC(16;0.037)					p.D237N	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN			5	899	+			237			Cadherin 2.		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.709G>A	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	34	5.364454	0.95877	0.0	1.16E-4	ENSG00000158258	ENST00000458420	T	0.79940	-1.32	5.7	5.7	0.88788	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.91310	0.7260	H	0.94886	3.595	0.80722	D	1	D	0.65815	0.995	P	0.57468	0.821	D	0.93408	0.6766	10	0.87932	D	0	-7.9719	17.3368	0.87283	0.0:0.0:1.0:0.0	.	237	Q9H4D0	CSTN2_HUMAN	N	237	ENSP00000402460:D237N	ENSP00000402460:D237N	D	+	1	0	CLSTN2	141622728	1.000000	0.71417	0.978000	0.43139	0.954000	0.61252	9.075000	0.94004	2.679000	0.91253	0.655000	0.94253	GAC		0.517	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		11	157	0	0	0	1	0	11	157					A	140140038	G	A	140140038	3	1	348	1	0	0	0	0	1	0	0	0	3562	1058	37	1	727	1	CLSTN2	3	140140038	Missense_Mutation	SNP	G	TCGA-EM-A4FR-01A-11D-A257-08		140140038	57882392	2	7404											
SNRNP48	154007	broad.mit.edu	37	chr6	7601664	7601664	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtcttgccctctatgatttcGtagttgaggagacaaagaaa	10	7	2	4	rs141422613		TCGA-EM-A4FR-01A-11D-A257-08	TCGA-EM-A4FR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cea715a5-b042-482e-9a2a-aa2781a086e2	b6b2661b-4529-47d8-84aa-cf750080d78b	g.chr6:7601664G>C	ENST00000342415.5	+	5	561	c.502G>C	c.(502-504)Gta>Cta	p.V168L		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	168					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						CTATGATTTCGTAGTTGAGGA	0.378																																						ENST00000342415.5																			0				kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(502-504)Gta>Cta		small nuclear ribonucleoprotein 48kDa (U11/U12)							103	100	101					6																	7601664		2203	4300	6503	SO:0001583	missense	154007				mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding	g.chr6:7601664G>C	AK056796	CCDS4502.1	6p24.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000168566	ENSG00000168566			21368	protein-coding gene	gene with protein product	"U11/U12 snRNP 48K"		"chromosome 6 open reading frame 151"	C6orf151		15146077	Standard	XR_427825		Approved	FLJ32234, dJ512B11.2, dJ336K20B.1	uc003mxr.3	Q6IEG0	OTTHUMG00000014213	ENST00000342415.5:c.502G>C	6.37:g.7601664G>C	ENSP00000339834:p.Val168Leu						p.V168L	NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN			5	561	+			168					A8K8P4|Q14C91|Q5T339|Q5THM1|Q5THM2|Q96MK1	Missense_Mutation	SNP	ENST00000342415.5	37	c.502G>C	CCDS4502.1	.	.	.	.	.	.	.	.	.	.	G	31	5.083486	0.94050	.	.	ENSG00000168566	ENST00000342415	T	0.39787	1.06	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.53769	0.1817	L	0.50333	1.59	0.53688	D	0.999979	D	0.69078	0.997	D	0.76575	0.988	T	0.53194	-0.8473	10	0.72032	D	0.01	-15.1815	17.8657	0.88794	0.0:0.0:1.0:0.0	.	168	Q6IEG0	SNR48_HUMAN	L	168	ENSP00000339834:V168L	ENSP00000339834:V168L	V	+	1	0	SNRNP48	7546663	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	6.457000	0.73505	2.826000	0.97356	0.491000	0.48974	GTA		0.378	SNRNP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039787.3	NM_152551		34	60	0	0	0	1	0	34	60					C	7601664	G	C	7601664	3	2	348	1	0	0	0	0	1	0	0	0	14857	1145	40	4	520	4	SNRNP48	6	7601664	Missense_Mutation	SNP	G	TCGA-EM-A4FR-01A-11D-A257-08		7601664	163513403	3	7405											
KIF25	3834	broad.mit.edu	37	chr6	168443303	168443303	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcatcagccgcagccttgcgGccctggcaggcgtcctgggg	16	15	1	0			TCGA-EM-A4FR-01A-11D-A257-08	TCGA-EM-A4FR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cea715a5-b042-482e-9a2a-aa2781a086e2	b6b2661b-4529-47d8-84aa-cf750080d78b	g.chr6:168443303G>T	ENST00000443060.2	+	9	1283	c.892G>T	c.(892-894)Gcc>Tcc	p.A298S	KIF25_ENST00000354419.2_Missense_Mutation_p.A298S|KIF25_ENST00000351261.3_Intron			Q9UIL4	KIF25_HUMAN	kinesin family member 25	298	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CAGCCTTGCGGCCCTGGCAGG	0.662																																						ENST00000443060.2																			0				NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(892-894)Gcc>Tcc		kinesin family member 25							104	100	102					6																	168443303		2203	4300	6503	SO:0001583	missense	0				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr6:168443303G>T	AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"Kinesins"	6390	protein-coding gene	gene with protein product		603815	"kinesin-like 3"	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.892G>T	6.37:g.168443303G>T	ENSP00000388878:p.Ala298Ser					KIF25_ENST00000351261.3_Intron|KIF25_ENST00000354419.2_Missense_Mutation_p.A298S	p.A298S			Q9UIL4	KIF25_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	9	1283	+		Breast(66;1.07e-05)|Ovarian(120;0.0728)	298					O94775|Q5SZU9	Missense_Mutation	SNP	ENST00000443060.2	37	c.892G>T	CCDS5305.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174722	0.57692	.	.	ENSG00000125337	ENST00000443060;ENST00000354419	T;T	0.77358	-1.09;-1.09	4.13	4.13	0.48395	Kinesin, motor domain (3);	0.067083	0.64402	D	0.000013	T	0.75191	0.3816	L	0.59967	1.855	0.80722	D	1	D	0.52996	0.957	P	0.52881	0.712	T	0.77236	-0.2662	10	0.48119	T	0.1	-20.7057	13.6293	0.62186	0.0:0.0:1.0:0.0	.	298	Q9UIL4	KIF25_HUMAN	S	298	ENSP00000388878:A298S;ENSP00000346401:A298S	ENSP00000346401:A298S	A	+	1	0	KIF25	168186152	1.000000	0.71417	0.034000	0.17996	0.057000	0.15508	5.351000	0.66022	2.011000	0.59026	0.543000	0.68304	GCC		0.662	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1			41	60	1	0	1.04594e-18	1	1.09575e-18	41	60					T	168443303	G	T	168443303	3	4	348	1	0	0	0	0	1	0	0	0	8293	1203	42	4	918	4	KIF25	6	168443303	Missense_Mutation	SNP	G	TCGA-EM-A4FR-01A-11D-A257-08	160841639	168443303	2671764	4	7406											
CACNA1B	774	broad.mit.edu	37	chr9	141016186	141016186	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccagcccctggcccctggctCtcgaattggctctgaccctt	9	18	2	1			TCGA-EM-A4FR-01A-11D-A257-08	TCGA-EM-A4FR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cea715a5-b042-482e-9a2a-aa2781a086e2	b6b2661b-4529-47d8-84aa-cf750080d78b	g.chr9:141016186C>T	ENST00000371372.1	+	47	6900	c.6755C>T	c.(6754-6756)tCt>tTt	p.S2252F	CACNA1B_ENST00000277551.2_Missense_Mutation_p.L2190F|CACNA1B_ENST00000371355.4_Missense_Mutation_p.S2253F|CACNA1B_ENST00000371363.1_Missense_Mutation_p.S2250F|CACNA1B_ENST00000371357.1_Missense_Mutation_p.S2251F|CACNA1B_ENST00000277549.5_Missense_Mutation_p.S1446F	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2252					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GCCCCTGGCTCTCGAATTGGC	0.662																																						ENST00000277549.5																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(4336-4338)tCt>tTt		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						33	39	37					9																	141016186		1985	4160	6145	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:141016186C>T	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.6755C>T	9.37:g.141016186C>T	ENSP00000360423:p.Ser2252Phe					CACNA1B_ENST00000277551.2_Missense_Mutation_p.L2190F|CACNA1B_ENST00000371355.4_Missense_Mutation_p.S2253F|CACNA1B_ENST00000371357.1_Missense_Mutation_p.S2251F|CACNA1B_ENST00000371363.1_Missense_Mutation_p.S2250F|CACNA1B_ENST00000371372.1_Missense_Mutation_p.S2252F	p.S1446F			Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	47	6906	+	all_cancers(76;0.166)		2252					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.4337C>T	CCDS59522.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.63|17.63	3.437351|3.437351	0.62955|0.62955	.|.	.|.	ENSG00000148408|ENSG00000148408	ENST00000277551|ENST00000371372;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D|D;D;D;D;D	0.96587|0.97016	-4.06|-3.99;-4.21;-3.99;-3.97;-3.97	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	.|0.906908	.|0.09427	.|N	.|0.803553	D|D	0.97062|0.97062	0.9040|0.9040	L|L	0.40543|0.40543	1.245|1.245	0.51767|0.51767	D|D	0.999938|0.999938	.|D;D	.|0.71674	.|0.995;0.998	.|P;P	.|0.62089	.|0.798;0.898	D|D	0.95097|0.95097	0.8227|0.8227	6|10	.|0.54805	.|T	.|0.06	.|.	18.5267|18.5267	0.90975|0.90975	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2251;2250	.|B1AQK7;B1AQK6	.|.;.	F|F	2190|2252;1446;2250;2251;2253	ENSP00000277551:L2190F|ENSP00000360423:S2252F;ENSP00000277549:S1446F;ENSP00000360414:S2250F;ENSP00000360408:S2251F;ENSP00000360406:S2253F	.|ENSP00000277549:S1446F	L|S	+|+	1|2	0|0	CACNA1B|CACNA1B	140136007|140136007	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.068000|0.068000	0.16541|0.16541	5.387000|5.387000	0.66243|0.66243	2.381000|2.381000	0.81170|0.81170	0.555000|0.555000	0.69702|0.69702	CTC|TCT		0.662	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		17	25	0	0	0	1	0	17	25					T	141016186	C	T	141016186	3	4	348	1	0	0	0	0	1	0	0	0	2539	913	32	2	6937	2	CACNA1B	9	141016186	Missense_Mutation	SNP	C	TCGA-EM-A4FR-01A-11D-A257-08		141016186	197245	5	7407											
MUC5B	727897	broad.mit.edu	37	chr11	1264418	1264418	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggggaccacccacaccgccaCagtgctgaccaccaccacca	8	20	0	1	rs201556927		TCGA-EM-A4FR-01A-11D-A257-08	TCGA-EM-A4FR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cea715a5-b042-482e-9a2a-aa2781a086e2	b6b2661b-4529-47d8-84aa-cf750080d78b	g.chr11:1264418C>G	ENST00000529681.1	+	31	6366	c.6308C>G	c.(6307-6309)aCa>aGa	p.T2103R	MUC5B_ENST00000447027.1_Missense_Mutation_p.T2106R|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2103	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACACCGCCACAGTGCTGACC	0.622																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(6316-6318)aCa>aGa		mucin 5B, oligomeric mucus/gel-forming							20	26	24					11																	1264418		1678	3752	5430	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1264418C>G	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.6308C>G	11.37:g.1264418C>G	ENSP00000436812:p.Thr2103Arg					RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.T2103R	p.T2106R			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	6375	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2103			11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.6317C>G	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	3.402	-0.122015	0.06795	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.21543	2.0;2.15	1.15	1.15	0.20763	.	.	.	.	.	T	0.29321	0.0730	L	0.46157	1.445	0.09310	N	1	D;D	0.59357	0.985;0.985	P;P	0.59115	0.852;0.852	T	0.08513	-1.0718	9	0.87932	D	0	.	5.4799	0.16717	0.0:0.7913:0.0:0.2087	rs3021160	2796;2106	A7Y9J9;E9PBJ0	.;.	R	2103;2106;2104;2173	ENSP00000436812:T2103R;ENSP00000415793:T2106R	ENSP00000343037:T2104R	T	+	2	0	MUC5B	1220994	0.001000	0.12720	0.011000	0.14972	0.125000	0.20455	-0.020000	0.12525	0.927000	0.37143	0.195000	0.17529	ACA		0.622	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		3	12	0	0	0	1	0	3	12					G	1264418	C	G	1264418	3	3	348	1	0	0	0	0	1	0	0	0	9979	478	17	4	6439	4	MUC5B	11	1264418	Missense_Mutation	SNP	C	TCGA-EM-A4FR-01A-11D-A257-08		1264418	133742098	6	7408											
USP2	9099	broad.mit.edu	37	chr11	119243580	119243580	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgagatgcactgcccttgCgaccatagttctccaggtag	10	13	1	1	rs146005919	byFrequency	TCGA-EM-A4FR-01A-11D-A257-08	TCGA-EM-A4FR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cea715a5-b042-482e-9a2a-aa2781a086e2	b6b2661b-4529-47d8-84aa-cf750080d78b	g.chr11:119243580C>T	ENST00000260187.2	-	2	905	c.611G>A	c.(610-612)cGc>cAc	p.R204H	RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	204					cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		ACTGCCCTTGCGACCATAGTT	0.627																																						ENST00000260187.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24						c.(610-612)cGc>cAc		ubiquitin specific peptidase 2		C	HIS/ARG	0,4398		0,0,2199	66	67	67		611	2.5	1.0	11	dbSNP_134	67	4,8586	3.7+/-12.6	0,4,4291	yes	missense	USP2	NM_004205.4	29	0,4,6490	TT,TC,CC		0.0466,0.0,0.0308	benign	204/606	119243580	4,12984	2199	4295	6494	SO:0001583	missense	9099				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity	g.chr11:119243580C>T	AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"Ubiquitin-specific peptidases"	12618	protein-coding gene	gene with protein product		604725	"ubiquitin specific protease 2"			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.611G>A	11.37:g.119243580C>T	ENSP00000260187:p.Arg204His					RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron	p.R204H	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)	2	905	-		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)	204					B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Missense_Mutation	SNP	ENST00000260187.2	37	c.611G>A	CCDS8422.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.639510	0.29157	0.0	4.66E-4	ENSG00000036672	ENST00000260187;ENST00000530918	T	0.20881	2.04	5.37	2.51	0.30379	.	0.560053	0.17430	N	0.174493	T	0.12689	0.0308	N	0.19112	0.55	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.07558	-1.0766	10	0.51188	T	0.08	-0.8356	7.5622	0.27857	0.0:0.7428:0.0:0.2572	.	204	O75604	UBP2_HUMAN	H	204;174	ENSP00000260187:R204H	ENSP00000260187:R204H	R	-	2	0	USP2	118748790	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	2.696000	0.47052	0.258000	0.21686	-0.136000	0.14681	CGC		0.627	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	NM_171997		6	77	0	0	0	1	0	6	77					T	119243580	C	T	119243580	3	4	348	1	0	0	0	0	1	0	0	0	17048	768	27	1	1405	1	USP2	11	119243580	Missense_Mutation	SNP	C	TCGA-EM-A4FR-01A-11D-A257-08	117979162	119243580	15762936	7	7409											
WDR16	146845	broad.mit.edu	37	chr17	9497560	9497560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccatctgtggcagccctgCagccggcctcaatgttggca	12	14	2	0	rs77839011	byFrequency	TCGA-EM-A4FR-01A-11D-A257-08	TCGA-EM-A4FR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cea715a5-b042-482e-9a2a-aa2781a086e2	b6b2661b-4529-47d8-84aa-cf750080d78b	g.chr17:9497560C>T	ENST00000352665.5	+	4	527	c.458C>T	c.(457-459)gCa>gTa	p.A153V	WDR16_ENST00000299764.5_Missense_Mutation_p.A163V|WDR16_ENST00000396219.3_Missense_Mutation_p.A85V|WDR16_ENST00000576499.1_3'UTR	NM_145054.4	NP_659491.4			WD repeat domain 16											NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						GGCAGCCCTGCAGCCGGCCTC	0.493													C|||	12	0.00239617	8e-04	0	5008	,	,		15040	0		0.0109	False		,,,				2504	0					ENST00000352665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(457-459)gCa>gTa		WD repeat domain 16		C	VAL/ALA,VAL/ALA	4,4402	8.1+/-20.4	0,4,2199	105	108	107		254,458	5.3	0.1	17	dbSNP_131	107	66,8534	41.2+/-98.3	2,62,4236	yes	missense,missense	WDR16	NM_001080556.1,NM_145054.4	64,64	2,66,6435	TT,TC,CC		0.7674,0.0908,0.5382	probably-damaging,probably-damaging	85/553,153/621	9497560	70,12936	2203	4300	6503	SO:0001583	missense	146845					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr17:9497560C>T	AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"WD repeat domain containing"	16053	protein-coding gene	gene with protein product	"WD40-repeat protein upregulated in HCC"	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000352665.5:c.458C>T	17.37:g.9497560C>T	ENSP00000339449:p.Ala153Val					WDR16_ENST00000396219.3_Missense_Mutation_p.A85V|WDR16_ENST00000299764.5_Missense_Mutation_p.A163V	p.A153V	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN			4	527	+			153						Missense_Mutation	SNP	ENST00000352665.5	37	c.458C>T	CCDS11149.2	7	0.003205128205128205	1	0.0020325203252032522	0	0.0	0	0.0	6	0.0079155672823219	C	19.68	3.873242	0.72180	9.08E-4	0.007674	ENSG00000166596	ENST00000352665;ENST00000396219;ENST00000299764	T;D;T	0.89196	2.68;-2.48;5.01	5.3	5.3	0.74995	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	0.90338	0.6977	M	0.77103	2.36	0.80722	D	1	P;P;D	0.54601	0.935;0.934;0.967	P;P;P	0.53649	0.731;0.623;0.728	D	0.90701	0.4620	10	0.46703	T	0.11	-22.6198	18.0915	0.89477	0.0:1.0:0.0:0.0	.	163;85;153	Q8N1V2-2;Q8N1V2-3;Q8N1V2	.;.;WDR16_HUMAN	V	153;85;163	ENSP00000339449:A153V;ENSP00000379521:A85V;ENSP00000299764:A163V	ENSP00000299764:A163V	A	+	2	0	WDR16	9438285	1.000000	0.71417	0.141000	0.22245	0.431000	0.31685	5.092000	0.64511	2.645000	0.89757	0.591000	0.81541	GCA		0.493	WDR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316569.2	NM_145054		5	105	0	0	0	1	0	5	105					T	9497560	C	T	9497560	3	4	348	1	0	0	0	0	1	0	0	0	17273	710	25	2	472	2	WDR16	17	9497560	Missense_Mutation	SNP	C	TCGA-EM-A4FR-01A-11D-A257-08		9497560	71697650	8	7410											
NOL9	79707	broad.mit.edu	37	chr1	6601950	6601950	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggggtaaattctgtctGtcccagatcacattccaaat	9	9	3	1			TCGA-EM-A4FU-01A-11D-A257-08	TCGA-EM-A4FU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31cf35c-b7f8-4d90-8cd1-848e85adc37c	5f85bdc6-3c1c-4257-82c2-52c399e9b322	g.chr1:6601950G>A	ENST00000377705.5	-	6	1047	c.1015C>T	c.(1015-1017)Cag>Tag	p.Q339*	RNU6-731P_ENST00000517213.1_RNA	NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	339					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		AATTCTGTCTGTCCCAGATCA	0.343																																						ENST00000377705.5																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19						c.(1015-1017)Cag>Tag		nucleolar protein 9							87	95	92					1																	6601950		2203	4300	6503	SO:0001587	stop_gained	79707				maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding	g.chr1:6601950G>A	AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"polynucleotide 5'-kinase"					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.1015C>T	1.37:g.6601950G>A	ENSP00000366934:p.Gln339*						p.Q339*	NM_024654.4	NP_078930.3	Q5SY16	NOL9_HUMAN		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)	6	1047	-	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	339					Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Nonsense_Mutation	SNP	ENST00000377705.5	37	c.1015C>T	CCDS80.1	.	.	.	.	.	.	.	.	.	.	G	38	6.737186	0.97801	.	.	ENSG00000162408	ENST00000377705	.	.	.	5.67	5.67	0.87782	.	0.080684	0.50627	D	0.000119	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-24.6669	17.332	0.87267	0.0:0.0:1.0:0.0	.	.	.	.	X	339	.	ENSP00000366934:Q339X	Q	-	1	0	NOL9	6524537	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.331000	0.90022	2.683000	0.91414	0.650000	0.86243	CAG		0.343	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002625.1	NM_024654		3	37	0	0	0	1	0	3	37					A	6601950	G	A	6601950	4	1	349	1	0	0	0	0	0	1	0	0	10528	1386	48	2	1121	2	NOL9	1	6601950	Nonsense_Mutation	SNP	G	TCGA-EM-A4FU-01A-11D-A257-08		6601950	242648671	1	7411											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290	byFrequency	TCGA-EM-A4FU-01A-11D-A257-08	TCGA-EM-A4FU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31cf35c-b7f8-4d90-8cd1-848e85adc37c	5f85bdc6-3c1c-4257-82c2-52c399e9b322	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		neuroblastoma RAS viral (v-ras) oncogene homolog							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		35	91	0	0	0	1	0	35	91					C	115256529	T	C	115256529	3	2	349	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-EM-A4FU-01A-11D-A257-08	108654579	115256529	133994092	2	7412											
ANKRD35	148741	broad.mit.edu	37	chr1	145561444	145561444	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggttgtcctaaggacctgCtggctgagagtacacaagag	14	8	0	2			TCGA-EM-A4FU-01A-11D-A257-08	TCGA-EM-A4FU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31cf35c-b7f8-4d90-8cd1-848e85adc37c	5f85bdc6-3c1c-4257-82c2-52c399e9b322	g.chr1:145561444C>T	ENST00000355594.4	+	10	1219	c.1132C>T	c.(1132-1134)Ctg>Ttg	p.L378L		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	378										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TAAGGACCTGCTGGCTGAGAG	0.562																																					Melanoma(9;127 754 22988 51047)	ENST00000355594.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47						c.(1132-1134)Ctg>Ttg		ankyrin repeat domain 35							37	40	39					1																	145561444		2203	4300	6503	SO:0001819	synonymous_variant	148741							g.chr1:145561444C>T	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"Ankyrin repeat domain containing"	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.1132C>T	1.37:g.145561444C>T							p.L378L	NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN			10	1219	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		378					A6NEU0|B4DL62|Q3MJ10|Q96LS3	Silent	SNP	ENST00000355594.4	37	c.1132C>T	CCDS919.1																																																																																				0.562	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		21	37	0	0	0	1	0	21	37					T	145561444	C	T	145561444	2	4	349	1	0	0	0	0	0	0	0	1	664	796	28	2		2	ANKRD35	1	145561444	Silent	SNP	C	TCGA-EM-A4FU-01A-11D-A257-08	30304915	145561444	103689177	3	7413											
ZNF827	152485	broad.mit.edu	37	chr4	146697048	146697048	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acggaatggacggtcaagtgCtggttcagatttgcacggca	14	8	2	1			TCGA-EM-A4FU-01A-11D-A257-08	TCGA-EM-A4FU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31cf35c-b7f8-4d90-8cd1-848e85adc37c	5f85bdc6-3c1c-4257-82c2-52c399e9b322	g.chr4:146697048C>G	ENST00000508784.1	-	10	2813	c.2586G>C	c.(2584-2586)caG>caC	p.Q862H	ZNF827_ENST00000513320.1_Missense_Mutation_p.Q512H|ZNF827_ENST00000379448.4_Missense_Mutation_p.Q862H			Q17R98	ZN827_HUMAN	zinc finger protein 827	862					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(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CGGTCAAGTGCTGGTTCAGAT	0.502																																						ENST00000508784.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2584-2586)caG>caC		zinc finger protein 827							159	131	141					4																	146697048		2203	4300	6503	SO:0001583	missense	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146697048C>G	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"Zinc fingers, C2H2-type"	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.2586G>C	4.37:g.146697048C>G	ENSP00000421863:p.Gln862His					ZNF827_ENST00000513320.1_Missense_Mutation_p.Q512H|ZNF827_ENST00000379448.4_Missense_Mutation_p.Q862H	p.Q862H			Q17R98	ZN827_HUMAN			10	2813	-	all_hematologic(180;0.151)		862					B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	ENST00000508784.1	37	c.2586G>C		.	.	.	.	.	.	.	.	.	.	C	22.2	4.254372	0.80135	.	.	ENSG00000151612	ENST00000508784;ENST00000513320;ENST00000379448;ENST00000281318;ENST00000440280	T;T;T	0.28895	1.59;1.59;1.59	6.03	6.03	0.97812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.45637	0.1352	L	0.39085	1.19	0.50313	D	0.999867	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.83275	0.994;0.996;0.994	T	0.26849	-1.0091	10	0.56958	D	0.05	-22.5471	13.7134	0.62682	0.0:0.9301:0.0:0.0699	.	512;862;862	G5E9Z1;Q17R98;Q17R98-2	.;ZN827_HUMAN;.	H	862;512;862;861;512	ENSP00000421863:Q862H;ENSP00000423130:Q512H;ENSP00000368761:Q862H	ENSP00000281318:Q861H	Q	-	3	2	ZNF827	146916498	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.032000	0.49736	2.861000	0.98227	0.655000	0.94253	CAG		0.502	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		4	80	0	0	0	1	0	4	80					G	146697048	C	G	146697048	3	3	349	1	0	0	0	0	1	0	0	0	18177	796	28	4	663	4	ZNF827	4	146697048	Missense_Mutation	SNP	C	TCGA-EM-A4FU-01A-11D-A257-08		146697048	44457228	4	7414											
OR4A15	81328	broad.mit.edu	37	chr11	55135556	55135556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttactaatctacatggtgaCgataatgggcaacctgctta	8	9	1	1	rs199660751	byFrequency	TCGA-EM-A4FU-01A-11D-A257-08	TCGA-EM-A4FU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31cf35c-b7f8-4d90-8cd1-848e85adc37c	5f85bdc6-3c1c-4257-82c2-52c399e9b322	g.chr11:55135556C>T	ENST00000314706.3	+	1	197	c.197C>T	c.(196-198)aCg>aTg	p.T66M		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T66M(2)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TACATGGTGACGATAATGGGC	0.423													.|||	2	0.000399361	8e-04	0.0014	5008	,	,		18318	0		0	False		,,,				2504	0					ENST00000314706.3																			2	Substitution - Missense(2)	p.T66M(2)	lung(1)|prostate(1)	NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						c.(196-198)aCg>aTg		olfactory receptor, family 4, subfamily A, member 15		C	MET/THR	0,4402		0,0,2201	98	90	93		197	2.5	0.0	11		93	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR4A15	NM_001005275.1	81	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	66/345	55135556	1,12993	2201	4296	6497	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135556C>T	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"GPCR / Class A : Olfactory receptors"	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.197C>T	11.37:g.55135556C>T	ENSP00000325065:p.Thr66Met						p.T66M	NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN			1	197	+			66					Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.197C>T	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	c	14.36	2.512216	0.44660	0.0	1.16E-4	ENSG00000181958	ENST00000314706	T	0.01455	4.87	3.48	2.53	0.30540	.	0.000000	0.51477	D	0.000087	T	0.12305	0.0299	H	0.95611	3.695	0.09310	N	1	D	0.71674	0.998	P	0.62813	0.907	T	0.06643	-1.0815	10	0.87932	D	0	.	9.5777	0.39468	0.2117:0.7883:0.0:0.0	.	66	Q8NGL6	O4A15_HUMAN	M	66	ENSP00000325065:T66M	ENSP00000325065:T66M	T	+	2	0	OR4A15	54892132	0.000000	0.05858	0.006000	0.13384	0.010000	0.07245	0.304000	0.19228	0.639000	0.30564	0.492000	0.49549	ACG		0.423	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		3	57	0	0	0	1	0	3	57					T	55135556	C	T	55135556	3	4	349	1	0	0	0	0	1	0	0	0	11040	536	19	1	199	1	OR4A15	11	55135556	Missense_Mutation	SNP	C	TCGA-EM-A4FU-01A-11D-A257-08		55135556	79870960	5	7415											
KRT6C	286887	broad.mit.edu	37	chr12	52864966	52864966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccggctcctctgagcaatctCctcgtattgggccttgacct	9	15	2	2			TCGA-EM-A4FU-01A-11D-A257-08	TCGA-EM-A4FU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31cf35c-b7f8-4d90-8cd1-848e85adc37c	5f85bdc6-3c1c-4257-82c2-52c399e9b322	g.chr12:52864966C>T	ENST00000252250.6	-	5	1074	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	343	Coil 2.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		TGAGCAATCTCCTCGTATTGG	0.577																																						ENST00000252250.6																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23						c.(1027-1029)Gag>Aag		keratin 6C							216	205	208					12																	52864966		2203	4300	6503	SO:0001583	missense	286887				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52864966C>T	L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"-", "Intermediate filaments type II, keratins (basic)"	20406	protein-coding gene	gene with protein product		612315	"keratin 6E"	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.1027G>A	12.37:g.52864966C>T	ENSP00000252250:p.Glu343Lys						p.E343K	NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0828)	5	1074	-			343			Coil 2.|Rod.		A1L4L5|P48666|Q2TAZ9|Q7RTN9	Missense_Mutation	SNP	ENST00000252250.6	37	c.1027G>A	CCDS8829.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140407	0.77775	.	.	ENSG00000170465	ENST00000252250;ENST00000411979	T	0.80214	-1.35	3.46	3.46	0.39613	Filament (1);	0.401865	0.23734	N	0.045084	D	0.84942	0.5584	M	0.79011	2.435	0.30341	N	0.785745	P	0.51791	0.948	P	0.50537	0.643	D	0.85256	0.1047	10	0.72032	D	0.01	.	15.5297	0.75948	0.0:1.0:0.0:0.0	.	343	P48668	K2C6C_HUMAN	K	343;328	ENSP00000252250:E343K	ENSP00000252250:E343K	E	-	1	0	KRT6C	51151233	1.000000	0.71417	0.967000	0.41034	0.687000	0.40016	5.760000	0.68793	1.929000	0.55896	0.442000	0.29010	GAG		0.577	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086		7	248	0	0	0	1	0	7	248					T	52864966	C	T	52864966	3	4	349	1	0	0	0	0	1	0	0	0	8482	864	30	2	687	2	KRT6C	12	52864966	Missense_Mutation	SNP	C	TCGA-EM-A4FU-01A-11D-A257-08		52864966	80986929	6	7416											
AAAS	8086	broad.mit.edu	37	chr12	53715180	53715180	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctactgcccgtcaccagctCgttattgtgctcatataggg	10	12	2	0			TCGA-EM-A4FU-01A-11D-A257-08	TCGA-EM-A4FU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31cf35c-b7f8-4d90-8cd1-848e85adc37c	5f85bdc6-3c1c-4257-82c2-52c399e9b322	g.chr12:53715180C>T	ENST00000209873.4	-	1	235	c.70G>A	c.(70-72)Gag>Aag	p.E24K	AAAS_ENST00000550286.1_Intron|AAAS_ENST00000394384.3_Missense_Mutation_p.E24K|AAAS_ENST00000549983.1_Intron	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	24					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						GTCACCAGCTCGTTATTGTGC	0.652											OREG0021865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000209873.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.(70-72)Gag>Aag		achalasia, adrenocortical insufficiency, alacrimia							109	114	112					12																	53715180		2203	4300	6503	SO:0001583	missense	8086				carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore		g.chr12:53715180C>T	AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"WD repeat domain containing"	13666	protein-coding gene	gene with protein product	"aladin", "Allgrove, triple-A"	605378	"achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.70G>A	12.37:g.53715180C>T	ENSP00000209873:p.Glu24Lys		OREG0021865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	994	AAAS_ENST00000549983.1_Intron|AAAS_ENST00000394384.3_Missense_Mutation_p.E24K|AAAS_ENST00000550286.1_Intron	p.E24K	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN			1	235	-			24					Q5JB47|Q9NWI6|Q9UG19	Missense_Mutation	SNP	ENST00000209873.4	37	c.70G>A	CCDS8856.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086318	0.76642	.	.	ENSG00000094914	ENST00000209873;ENST00000394384;ENST00000547757;ENST00000552161	D;D;T	0.85339	-1.78;-1.97;-1.22	5.35	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.81113	0.4755	L	0.54323	1.7	0.80722	D	1	B;B	0.18166	0.026;0.026	B;B	0.10450	0.005;0.005	T	0.76852	-0.2806	10	0.39692	T	0.17	-18.2228	11.9061	0.52713	0.0:0.9152:0.0:0.0848	.	24;24	Q5JB47;Q9NRG9	.;AAAS_HUMAN	K	24	ENSP00000209873:E24K;ENSP00000377908:E24K;ENSP00000448020:E24K	ENSP00000209873:E24K	E	-	1	0	AAAS	52001447	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.812000	0.55628	1.394000	0.46624	0.563000	0.77884	GAG		0.652	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405632.1			26	184	0	0	0	1	0	26	184					T	53715180	C	T	53715180	3	4	349	1	0	0	0	0	1	0	0	0	8	893	31	1	1634	1	AAAS	12	53715180	Missense_Mutation	SNP	C	TCGA-EM-A4FU-01A-11D-A257-08	850214	53715180	80136715	7	7417											
TUBB4	10382	broad.mit.edu	37	chr19	6495497	6495497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccactccacgaagtagctgCtgttcttgctctgcacgctc	8	15	2	0			TCGA-EM-A4FU-01A-11D-A257-08	TCGA-EM-A4FU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31cf35c-b7f8-4d90-8cd1-848e85adc37c	5f85bdc6-3c1c-4257-82c2-52c399e9b322	g.chr19:6495497C>T	ENST00000264071.2	-	4	1384	c.1013G>A	c.(1012-1014)aGc>aAc	p.S338N	TUBB4A_ENST00000540257.1_Missense_Mutation_p.S338N|CTD-2396E7.9_ENST00000599292.1_RNA|CTD-2396E7.10_ENST00000596027.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	338					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										GAAGTAGCTGCTGTTCTTGCT	0.657																																						ENST00000264071.2																			0											c.(1012-1014)aGc>aAc		tubulin, beta 4A class IVa							182	148	160					19																	6495497		2203	4300	6503	SO:0001583	missense	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6495497C>T	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"Tubulins"	20774	protein-coding gene	gene with protein product	"class IVa beta-tubulin"	602662	"tubulin, beta 4", "tubulin, beta 4 class IVa", "dystonia 4, torsion (autosomal dominant)"	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.1013G>A	19.37:g.6495497C>T	ENSP00000264071:p.Ser338Asn					TUBB4A_ENST00000540257.1_Missense_Mutation_p.S338N	p.S338N			P04350	TBB4_HUMAN			4	1384	-			338					B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	c.1013G>A	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.928451	0.34002	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	D;D	0.82433	-1.61;-1.61	3.43	3.43	0.39272	.	0.000000	0.85682	U	0.000000	D	0.92473	0.7610	M	0.92604	3.325	0.49687	D	0.999818	D	0.60160	0.987	D	0.85130	0.997	D	0.94109	0.7369	10	0.87932	D	0	.	13.6752	0.62449	0.0:1.0:0.0:0.0	.	338	P04350	TBB4A_HUMAN	N	338;338;256	ENSP00000264071:S338N;ENSP00000443590:S338N	ENSP00000264071:S338N	S	-	2	0	TUBB4	6446497	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.861000	0.69553	1.473000	0.48159	0.306000	0.20318	AGC		0.657	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		7	271	0	0	0	1	0	7	271					T	6495497	C	T	6495497	3	4	349	1	0	0	0	0	1	0	0	0	16755	797	28	2	325	2	TUBB4	19	6495497	Missense_Mutation	SNP	C	TCGA-EM-A4FU-01A-11D-A257-08		6495497	52633486	8	7418											
CEACAM4	1089	broad.mit.edu	37	chr19	42133313	42133313	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtgccctccacggggagCggctgagggggggcccatgg	19	13	0	1	rs112325334		TCGA-EM-A4FU-01A-11D-A257-08	TCGA-EM-A4FU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31cf35c-b7f8-4d90-8cd1-848e85adc37c	5f85bdc6-3c1c-4257-82c2-52c399e9b322	g.chr19:42133313C>T	ENST00000221954.2	-	1	129	c.19G>A	c.(19-21)Gct>Act	p.A7T	CEACAM4_ENST00000600925.1_Missense_Mutation_p.A7T	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	7						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CCACGGGGAGCGGCTGAGGGG	0.652													C|||	1	0.000199681	0	0	5008	,	,		16213	0.001		0	False		,,,				2504	0					ENST00000221954.2																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						c.(19-21)Gct>Act		carcinoembryonic antigen-related cell adhesion molecule 4							26	28	28					19																	42133313		2203	4300	6503	SO:0001583	missense	1089					integral to plasma membrane|membrane fraction		g.chr19:42133313C>T	D90276	CCDS33033.1	19q13.2	2013-01-11			ENSG00000105352	ENSG00000105352		"Immunoglobulin superfamily / V-set domain containing"	1816	protein-coding gene	gene with protein product				CGM7		2050678	Standard	XM_005258434		Approved		uc002orh.1	O75871	OTTHUMG00000151065	ENST00000221954.2:c.19G>A	19.37:g.42133313C>T	ENSP00000221954:p.Ala7Thr					CEACAM4_ENST00000600925.1_Missense_Mutation_p.A7T	p.A7T	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN			1	129	-			7					Q03715|Q7LDZ7	Missense_Mutation	SNP	ENST00000221954.2	37	c.19G>A	CCDS33033.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.700281	0.30142	.	.	ENSG00000105352	ENST00000221954	T	0.01221	5.15	2.28	-4.56	0.03431	.	.	.	.	.	T	0.00637	0.0021	N	0.08118	0	0.09310	N	1	B;B	0.32188	0.359;0.11	B;B	0.21546	0.035;0.026	T	0.49204	-0.8964	9	0.15499	T	0.54	.	3.871	0.09036	0.3055:0.4072:0.2873:0.0	.	7;7	E7EMX3;O75871	.;CEAM4_HUMAN	T	7	ENSP00000221954:A7T	ENSP00000221954:A7T	A	-	1	0	CEACAM4	46825153	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-3.436000	0.00471	-0.545000	0.06224	0.195000	0.17529	GCT		0.652	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321148.1	NM_001817		15	22	0	0	0	1	0	15	22					T	42133313	C	T	42133313	3	4	349	1	0	0	0	0	1	0	0	0	3194	768	27	1	743	1	CEACAM4	19	42133313	Missense_Mutation	SNP	C	TCGA-EM-A4FU-01A-11D-A257-08	35637816	42133313	16995670	9	7419											
PRNP	5621	broad.mit.edu	37	chr20	4680251	4680251	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggggggccttggcggctacAtgctgggaagtgccatgagc	18	9	0	1	rs1799990	byFrequency	TCGA-EM-A4FU-01A-11D-A257-08	TCGA-EM-A4FU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31cf35c-b7f8-4d90-8cd1-848e85adc37c	5f85bdc6-3c1c-4257-82c2-52c399e9b322	g.chr20:4680251A>G	ENST00000379440.4	+	2	672	c.385A>G	c.(385-387)Atg>Gtg	p.M129V	PRNP_ENST00000430350.2_Missense_Mutation_p.M129V	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	F7VJQ1	APRIO_HUMAN	prion protein	0						integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)		p.M129V(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						TGGCGGCTACATGCTGGGAAG	0.547													A|||	1335	0.266573	0.3525	0.4063	5008	,	,		16338	0.0248		0.325	False		,,,				2504	0.2403					ENST00000379440.4																			2	Substitution - Missense(2)	p.M129V(2)	central_nervous_system(1)|skin(1)	central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14	GRCh37	CM890104	PRNP	M	rs1799990	c.(385-387)Atg>Gtg		prion protein	Tetracycline(DB00759)	A	VAL/MET,VAL/MET,VAL/MET,VAL/MET,VAL/MET	1504,2902	476.6+/-357.7	261,982,960	72	56	62	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	385,385,385,385,385	2.9	1.0	20	dbSNP_89	62	2889,5711	452.0+/-362.8	486,1917,1897	yes	missense,missense,missense,missense,missense	PRNP	NM_000311.3,NM_001080121.1,NM_001080122.1,NM_001080123.1,NM_183079.2	21,21,21,21,21	747,2899,2857	GG,GA,AA	http://www.ncbi.nlm.nih.gov/pubmed?term	33.593,34.1353,33.7767	benign,benign,benign,benign,benign	129/254,129/254,129/254,129/254,129/254	4680251	4393,8613	2203	4300	6503	SO:0001583	missense	5621				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding	g.chr20:4680251A>G	M13899	CCDS13080.1	20p13	2014-06-05	2008-07-28		ENSG00000171867	ENSG00000171867		"CD molecules"	9449	protein-coding gene	gene with protein product	"Creutzfeldt-Jakob disease", "Gerstmann-Strausler-Scheinker syndrome", "fatal familial insomnia", "p27-30"	176640	"prion protein (p27-30)"	PRIP, GSS, CJD			Standard	NM_000311		Approved	CD230, PRP, AltPrP	uc002wkw.4	F7VJQ1	OTTHUMG00000031786	ENST00000379440.4:c.385A>G	20.37:g.4680251A>G	ENSP00000368752:p.Met129Val					PRNP_ENST00000430350.2_Missense_Mutation_p.M129V	p.M129V	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	P04156	PRIO_HUMAN			2	672	+			129		M -> V (polymorphism; determines the disease phenotype in patients who have a PrP mutation at position 178. Patients with M-129 develop FFI, those with V-129 develop CJD; dbSNP:rs1799990).	Interaction with GRB2, ERI3 and SYN1 (By similarity).			Missense_Mutation	SNP	ENST00000379440.4	37	c.385A>G	CCDS13080.1	576	0.26373626373626374	172	0.34959349593495936	140	0.3867403314917127	12	0.02097902097902098	252	0.3324538258575198	A	11.91	1.778679	0.31502	0.341353	0.33593	ENSG00000171867	ENST00000379440;ENST00000430350;ENST00000424424;ENST00000444805;ENST00000457586	D;D;D;T	0.91996	-2.95;-2.95;-2.95;-1.42	5.3	2.93	0.34026	Prion/Doppel protein, beta-ribbon domain (2);	0.219208	0.38720	N	0.001589	T	0.00012	0.0000	L	0.47716	1.5	0.30001	P	0.8160000000000001	B;B;B	0.25235	0.009;0.082;0.121	B;B;B	0.22601	0.012;0.036;0.04	T	0.04693	-1.0933	9	0.66056	D	0.02	-2.3944	5.8372	0.18613	0.6585:0.1745:0.0:0.167	rs1799990;rs17850971;rs17858648;rs52800775;rs1799990	129;129;161	B2NI04;P04156;O75942	.;PRIO_HUMAN;.	V	129;129;129;68;129	ENSP00000368752:M129V;ENSP00000399376:M129V;ENSP00000411599:M129V;ENSP00000415284:M129V	ENSP00000368752:M129V	M	+	1	0	PRNP	4628251	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.521000	0.22893	0.281000	0.22233	0.533000	0.62120	ATG		0.547	PRNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077820.2	NM_000311		4	95	0	0	0	1	0	4	95					G	4680251	A	G	4680251	3	3	349	1	0	0	0	0	1	0	0	0	12544	217	8	3	387	3	PRNP	20	4680251	Missense_Mutation	SNP	A	TCGA-EM-A4FU-01A-11D-A257-08		4680251	58345269	10	7420											
ZNFX1	57169	broad.mit.edu	37	chr20	47864326	47864326	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggctagtgaagctcaaGcgcttcttggccagccactc	10	14	2	1			TCGA-EM-A4FU-01A-11D-A257-08	TCGA-EM-A4FU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31cf35c-b7f8-4d90-8cd1-848e85adc37c	5f85bdc6-3c1c-4257-82c2-52c399e9b322	g.chr20:47864326G>A	ENST00000396105.1	-	14	5481	c.5235C>T	c.(5233-5235)cgC>cgT	p.R1745R	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Silent_p.R1745R	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1745							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGAAGCTCAAGCGCTTCTTGG	0.502																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(5233-5235)cgC>cgT		zinc finger, NFX1-type containing 1							94	91	92					20																	47864326		2203	4300	6503	SO:0001819	synonymous_variant	57169						metal ion binding	g.chr20:47864326G>A	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.5235C>T	20.37:g.47864326G>A						ZNFX1_ENST00000371752.1_Silent_p.R1745R|ZNFX1_ENST00000371754.4_Intron	p.R1745R	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		14	5481	-			1745					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Silent	SNP	ENST00000396105.1	37	c.5235C>T	CCDS13417.1																																																																																				0.502	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		5	102	0	0	0	1	0	5	102					A	47864326	G	A	47864326	2	1	349	1	0	0	0	0	0	0	0	1	18202	958	34	2		2	ZNFX1	20	47864326	Silent	SNP	G	TCGA-EM-A4FU-01A-11D-A257-08	43184075	47864326	15161194	11	7421											
ZNF362	149076	broad.mit.edu	37	chr1	33745738	33745738	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgcaggtctggggctgtcCacccggaccccgtctgtgag	14	14	2	1			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr1:33745738C>T	ENST00000539719.1	+	5	533	c.363C>T	c.(361-363)tcC>tcT	p.S121S	ZNF362_ENST00000373428.5_Silent_p.S121S	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	121					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(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGGGGCTGTCCACCCGGACCC	0.687																																					Pancreas(162;1431 2676 35353 38425)	ENST00000539719.1																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10						c.(361-363)tcC>tcT		zinc finger protein 362							22	28	26					1																	33745738		2198	4291	6489	SO:0001819	synonymous_variant	149076				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:33745738C>T		CCDS377.1	1p35.1	2013-01-08			ENSG00000160094	ENSG00000160094		"Zinc fingers, C2H2-type"	18079	protein-coding gene	gene with protein product	"rotund homolog (Drosophila)"						Standard	NM_152493		Approved	FLJ25476, lin-29, RN	uc001bxc.1	Q5T0B9	OTTHUMG00000004124	ENST00000539719.1:c.363C>T	1.37:g.33745738C>T						ZNF362_ENST00000373428.5_Silent_p.S121S	p.S121S	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN			5	533	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	121					Q8WYU4	Silent	SNP	ENST00000539719.1	37	c.363C>T	CCDS377.1																																																																																				0.687	ZNF362-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011857.2	NM_152493		11	33	0	0	0	1	0	11	33					T	33745738	C	T	33745738	2	4	350	1	0	0	0	0	0	0	0	1	17865	581	21	2		2	ZNF362	1	33745738	Silent	SNP	C	TCGA-EM-A4FV-01A-11D-A257-08		33745738	215504883	1	7422											
DHCR24	1718	broad.mit.edu	37	chr1	55349397	55349397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacagtgagccagccagggCgccccgtgcacatgaaggtc	14	13	0	3	rs387906939		TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr1:55349397C>T	ENST00000371269.3	-	2	379	c.281G>A	c.(280-282)cGc>cAc	p.R94H	DHCR24_ENST00000535035.1_Missense_Mutation_p.R53H	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	94	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				amyloid precursor protein catabolic process (GO:0042987)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cholesterol biosynthetic process (GO:0006695)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|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)|oxidation-reduction process (GO:0055114)|plasminogen activation (GO:0031639)|protein localization (GO:0008104)|Ras protein signal transduction (GO:0007265)|regulation of neuron death (GO:1901214)|response to hormone (GO:0009725)|response to oxidative stress (GO:0006979)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|tissue development (GO:0009888)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	delta24(24-1) sterol reductase activity (GO:0000246)|delta24-sterol reductase activity (GO:0050614)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|peptide antigen binding (GO:0042605)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						CCAGCCAGGGCGCCCCGTGCA	0.562																																					Pancreas(39;516 1021 24601 30715 32780)	ENST00000371269.3																			0				large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						c.(280-282)cGc>cAc		24-dehydrocholesterol reductase							194	166	176					1																	55349397		2203	4300	6503	SO:0001583	missense	1718				anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding	g.chr1:55349397C>T	AF261758	CCDS600.1	1p32.3	2008-02-05			ENSG00000116133	ENSG00000116133			2859	protein-coding gene	gene with protein product		606418				11519011	Standard	NM_014762		Approved	KIAA0018, seladin-1	uc001cyc.1	Q15392	OTTHUMG00000009989	ENST00000371269.3:c.281G>A	1.37:g.55349397C>T	ENSP00000360316:p.Arg94His					DHCR24_ENST00000535035.1_Missense_Mutation_p.R53H	p.R94H	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN			2	379	-			94			FAD-binding PCMH-type.		B7Z817|D3DQ51|Q9HBA8	Missense_Mutation	SNP	ENST00000371269.3	37	c.281G>A	CCDS600.1	.	.	.	.	.	.	.	.	.	.	C	35	5.448084	0.96205	.	.	ENSG00000116133	ENST00000539536;ENST00000371269;ENST00000535035	D;D	0.94537	-2.05;-3.45	5.25	5.25	0.73442	FAD-binding, type 2 (2);	0.000000	0.85682	D	0.000000	D	0.97901	0.9310	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98633	1.0672	10	0.66056	D	0.02	-6.311	18.8672	0.92298	0.0:1.0:0.0:0.0	.	53;94	B7Z817;Q15392	.;DHC24_HUMAN	H	94;94;53	ENSP00000360316:R94H;ENSP00000440191:R53H	ENSP00000360316:R94H	R	-	2	0	DHCR24	55121985	1.000000	0.71417	0.997000	0.53966	0.961000	0.63080	7.818000	0.86416	2.467000	0.83353	0.655000	0.94253	CGC		0.562	DHCR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027680.1	NM_014762		22	75	0	0	0	1	0	22	75					T	55349397	C	T	55349397	3	4	350	1	0	0	0	0	1	0	0	0	4476	768	27	1	1301	1	DHCR24	1	55349397	Missense_Mutation	SNP	C	TCGA-EM-A4FV-01A-11D-A257-08	21603659	55349397	193901224	2	7423											
ELTD1	64123	broad.mit.edu	37	chr1	79383543	79383543	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgccataatatctgtatcCtagtgctgccgaaaatccaa	7	10	1	0			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr1:79383543C>A	ENST00000370742.3	-	11	1717	c.1654G>T	c.(1654-1656)Gga>Tga	p.G552*		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	552					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TATCTGTATCCTAGTGCTGCC	0.358																																						ENST00000370742.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69						c.(1654-1656)Gga>Tga		EGF, latrophilin and seven transmembrane domain containing 1							135	134	135					1																	79383543		1853	4094	5947	SO:0001587	stop_gained	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79383543C>A	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"-", "GPCR / Class B : Orphans"	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1654G>T	1.37:g.79383543C>A	ENSP00000359778:p.Gly552*						p.G552*	NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	11	1717	-			552					B1AR71|Q5KU34	Nonsense_Mutation	SNP	ENST00000370742.3	37	c.1654G>T	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	C	40	8.433112	0.98808	.	.	ENSG00000162618	ENST00000370742;ENST00000401034	.	.	.	5.79	4.87	0.63330	.	0.051139	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1351	0.72558	0.0:0.9313:0.0:0.0687	.	.	.	.	X	552;10	.	.	G	-	1	0	ELTD1	79156131	1.000000	0.71417	0.981000	0.43875	0.846000	0.48090	6.082000	0.71318	2.749000	0.94314	0.491000	0.48974	GGA		0.358	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		4	82	1	0	0.00024832	1	0.00024832	4	82					A	79383543	C	A	79383543	4	1	350	1	0	0	0	0	0	1	0	0	5084	690	24	4	438	4	ELTD1	1	79383543	Nonsense_Mutation	SNP	C	TCGA-EM-A4FV-01A-11D-A257-08	24034146	79383543	169867078	3	7424											
CRTC2	200186	broad.mit.edu	37	chr1	153924016	153924016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtacatggcgggccaaggagGaggcaggcagagaggggtgg	22	6	0	1			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr1:153924016G>A	ENST00000368633.1	-	11	1251	c.1124C>T	c.(1123-1125)tCc>tTc	p.S375F	CRTC2_ENST00000368630.3_Missense_Mutation_p.S55F|CRTC2_ENST00000476883.1_5'Flank	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	375	Ser-rich.				gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)	p.S375F(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGCCAAGGAGGAGGCAGGCAG	0.642																																						ENST00000368633.1																			1	Substitution - Missense(1)	p.S375F(1)	skin(1)	NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27						c.(1123-1125)tCc>tTc		CREB regulated transcription coactivator 2							54	59	58					1																	153924016		2202	4300	6502	SO:0001583	missense	200186				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:153924016G>A	AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.1124C>T	1.37:g.153924016G>A	ENSP00000357622:p.Ser375Phe					CRTC2_ENST00000368630.3_Missense_Mutation_p.S55F	p.S375F	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		11	1251	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		375			Ser-rich.		Q6UUV8|Q7Z3X7|Q8N332	Missense_Mutation	SNP	ENST00000368633.1	37	c.1124C>T	CCDS30875.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544338	0.65198	.	.	ENSG00000160741	ENST00000368630;ENST00000368633	T;T	0.48201	0.82;2.65	4.63	4.63	0.57726	.	0.538685	0.19321	N	0.117131	T	0.54481	0.1861	L	0.57536	1.79	0.42541	D	0.993078	D	0.69078	0.997	D	0.63597	0.916	T	0.55952	-0.8059	10	0.52906	T	0.07	-14.715	15.0183	0.71605	0.0:0.0:1.0:0.0	.	375	Q53ET0	CRTC2_HUMAN	F	55;375	ENSP00000357619:S55F;ENSP00000357622:S375F	ENSP00000357619:S55F	S	-	2	0	CRTC2	152190640	1.000000	0.71417	0.998000	0.56505	0.722000	0.41435	5.617000	0.67716	2.396000	0.81511	0.557000	0.71058	TCC		0.642	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090272.3	NM_181715		6	38	0	0	0	1	0	6	38					A	153924016	G	A	153924016	3	1	350	1	0	0	0	0	1	0	0	0	3900	1174	41	2	973	2	CRTC2	1	153924016	Missense_Mutation	SNP	G	TCGA-EM-A4FV-01A-11D-A257-08	74540473	153924016	95326605	4	7425											
FBXL2	25827	broad.mit.edu	37	chr3	33420177	33420177	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacagcatgtttctctccagAtaaccgacagcacactcatc	5	15	2	1			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr3:33420177A>G	ENST00000484457.1	+	13	986	c.895A>G	c.(895-897)Ata>Gta	p.I299V	FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000446237.3_Splice_Site_p.I9V|FBXL2_ENST00000538892.1_Splice_Site_p.I231V|FBXL2_ENST00000507198.1_Splice_Site_p.I231V|FBXL2_ENST00000542085.1_Splice_Site_p.I9V|FBXL2_ENST00000538181.1_Splice_Site_p.I215V	NM_012157.3	NP_036289.3			F-box and leucine-rich repeat protein 2											endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						TTCTCTCCAGATAACCGACAG	0.428																																						ENST00000484457.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						c.e13-1		F-box and leucine-rich repeat protein 2							186	159	168					3																	33420177		2203	4300	6503	SO:0001630	splice_region_variant	25827				interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity	g.chr3:33420177A>G	AF174589	CCDS2658.1, CCDS54560.1	3p22.3	2011-06-09			ENSG00000153558	ENSG00000153558		"F-boxes / Leucine-rich repeats"	13598	protein-coding gene	gene with protein product		605652				10508920, 10531035	Standard	NM_012157		Approved	FBL2, FBL3	uc003cfp.3	Q9UKC9	OTTHUMG00000130745	ENST00000484457.1:c.895-1A>G	3.37:g.33420177A>G						FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000446237.3_Splice_Site_p.I9_splice|FBXL2_ENST00000542085.1_Splice_Site_p.I9_splice|FBXL2_ENST00000538892.1_Splice_Site_p.I231_splice|FBXL2_ENST00000507198.1_Splice_Site_p.I231_splice|FBXL2_ENST00000538181.1_Splice_Site_p.I215_splice	p.I299_splice	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN			13	986	+			299						Splice_Site	SNP	ENST00000484457.1	37	c.894_splice	CCDS2658.1	.	.	.	.	.	.	.	.	.	.	A	12.15	1.850473	0.32699	.	.	ENSG00000153558	ENST00000484457;ENST00000538892;ENST00000538181;ENST00000446237;ENST00000507198;ENST00000542085	T;T;T;T;T;T	0.17691	4.2;4.2;4.2;2.26;4.2;3.42	4.56	4.56	0.56223	.	0.114031	0.64402	D	0.000012	T	0.13756	0.0333	L	0.31294	0.92	0.48087	D	0.999583	B;B;B	0.13594	0.007;0.007;0.008	B;B;B	0.20384	0.029;0.029;0.009	T	0.08086	-1.0739	9	.	.	.	.	14.6801	0.69012	1.0:0.0:0.0:0.0	.	215;194;299	B4E1B8;B4DMM3;Q9UKC9	.;.;FBXL2_HUMAN	V	299;231;215;9;231;9	ENSP00000417601:I299V;ENSP00000441228:I231V;ENSP00000440794:I215V;ENSP00000389251:I9V;ENSP00000426163:I231V;ENSP00000445039:I9V	.	I	+	1	0	FBXL2	33395181	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	3.446000	0.52928	1.995000	0.58328	0.529000	0.55759	ATA		0.428	FBXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253245.2	NM_012157	Missense_Mutation	13	29	0	0	0	1	0	13	29					G	33420177	A	G	33420177	5	3	350	1	0	0	0	0	0	0	1	0	5716	347	12	3	945	3	FBXL2	3	33420177	Splice_Site	SNP	A	TCGA-EM-A4FV-01A-11D-A257-08		33420177	164602253	5	7426											
PROS1	5627	broad.mit.edu	37	chr3	93595969	93595969	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaattccagatgagattgttGatcggaacatagacttaggg	11	5	0	4			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr3:93595969G>T	ENST00000394236.3	-	14	2027	c.1711C>A	c.(1711-1713)Caa>Aaa	p.Q571K	PROS1_ENST00000407433.1_Missense_Mutation_p.Q440K	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	571	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TGAGATTGTTGATCGGAACAT	0.373																																						ENST00000394236.3																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46						c.(1711-1713)Caa>Aaa		protein S (alpha)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						106	99	101					3																	93595969		2203	4300	6503	SO:0001583	missense	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93595969G>T		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.1711C>A	3.37:g.93595969G>T	ENSP00000377783:p.Gln571Lys					PROS1_ENST00000407433.1_Missense_Mutation_p.Q440K	p.Q571K	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN			14	2027	-			571			Laminin G-like 2.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.1711C>A	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	G	7.864	0.726621	0.15439	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	T;T	0.78126	-1.15;-1.15	4.86	1.82	0.25136	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.402484	0.27375	N	0.019644	T	0.70979	0.3286	M	0.62723	1.935	0.09310	N	1	B	0.28128	0.201	B	0.31245	0.126	T	0.57458	-0.7808	10	0.25106	T	0.35	.	8.5651	0.33534	0.0:0.27:0.4799:0.2501	.	571	P07225	PROS_HUMAN	K	571;440	ENSP00000377783:Q571K;ENSP00000385794:Q440K	ENSP00000377783:Q571K	Q	-	1	0	PROS1	95078659	0.003000	0.15002	0.003000	0.11579	0.003000	0.03518	1.235000	0.32671	0.600000	0.29862	0.555000	0.69702	CAA		0.373	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		9	34	1	0	5.4927e-09	1	5.89461e-09	9	34					T	93595969	G	T	93595969	3	4	350	1	0	0	0	0	1	0	0	0	12558	1299	45	4	327	4	PROS1	3	93595969	Missense_Mutation	SNP	G	TCGA-EM-A4FV-01A-11D-A257-08	60175792	93595969	104426461	6	7427											
MRS2	57380	broad.mit.edu	37	chr6	24416723	24416723	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agagctctgtgtatcaaaatGgagtgacccacaagtcttgt	10	8	3	2			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr6:24416723G>C	ENST00000378386.3	+	7	911	c.818G>C	c.(817-819)tGg>tCg	p.W273S	MRS2_ENST00000543597.1_5'UTR|MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000535061.1_Missense_Mutation_p.W223S|MRS2_ENST00000443868.2_Missense_Mutation_p.W276S|MRS2_ENST00000378353.1_Missense_Mutation_p.W273S|MRS2_ENST00000483634.1_3'UTR	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	273						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						GTATCAAAATGGAGTGACCCA	0.318																																						ENST00000378386.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						c.(817-819)tGg>tCg		MRS2 magnesium transporter							80	91	87					6																	24416723		2203	4292	6495	SO:0001583	missense	57380				ion transport	integral to membrane|mitochondrial inner membrane		g.chr6:24416723G>C	AF288288	CCDS4552.1, CCDS69055.1, CCDS69056.1, CCDS75408.1	6p22.3-p22.1	2013-05-03	2013-05-03	2008-01-18	ENSG00000124532	ENSG00000124532			13785	protein-coding gene	gene with protein product			"MRS2-like, magnesium homeostasis factor (S. cerevisiae)", "MRS2 magnesium homeostasis factor homolog (S. cerevisiae)"	MRS2L			Standard	XM_005249242		Approved		uc003neb.3	Q9HD23	OTTHUMG00000014355	ENST00000378386.3:c.818G>C	6.37:g.24416723G>C	ENSP00000367637:p.Trp273Ser					MRS2_ENST00000443868.2_Missense_Mutation_p.W276S|MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000535061.1_Missense_Mutation_p.W223S|MRS2_ENST00000543597.1_5'UTR|MRS2_ENST00000378353.1_Missense_Mutation_p.W273S|MRS2_ENST00000483634.1_3'UTR	p.W273S	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN			7	911	+			273					A8K4U3|B3KNN2|B4DQL2|Q5T3Y1|Q6NTG4|Q96KF8|Q9BVP1	Missense_Mutation	SNP	ENST00000378386.3	37	c.818G>C	CCDS4552.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.51|14.51	2.556537|2.556537	0.45487|0.45487	.|.	.|.	ENSG00000124532|ENSG00000124532	ENST00000446191|ENST00000535061;ENST00000378386;ENST00000378353;ENST00000443868	.|T;T;T;T	.|0.42131	.|1.56;1.54;0.98;1.51	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	.|0.137763	.|0.56097	.|D	.|0.000025	T|T	0.40719|0.40719	0.1128|0.1128	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	.|D;P;D;P	.|0.69078	.|0.997;0.951;0.989;0.921	.|P;P;P;B	.|0.62298	.|0.9;0.675;0.843;0.36	T|T	0.20538|0.20538	-1.0272|-1.0272	5|10	.|0.46703	.|T	.|0.11	-17.5816|-17.5816	12.8395|12.8395	0.57793|0.57793	0.075:0.0:0.925:0.0|0.075:0.0:0.925:0.0	.|.	.|223;276;273;273	.|F5GWH3;B4DQL2;Q9HD23;Q9HD23-2	.|.;.;MRS2_HUMAN;.	R|S	92|223;273;273;276	.|ENSP00000441839:W223S;ENSP00000367637:W273S;ENSP00000367604:W273S;ENSP00000399585:W276S	.|ENSP00000367604:W273S	G|W	+|+	1|2	0|0	MRS2|MRS2	24524702|24524702	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.620000|0.620000	0.37586|0.37586	7.592000|7.592000	0.82676|0.82676	2.687000|2.687000	0.91594|0.91594	0.563000|0.563000	0.77884|0.77884	GGA|TGG		0.318	MRS2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040002.1			17	61	0	0	0	1	0	17	61					C	24416723	G	C	24416723	3	2	350	1	0	0	0	0	1	0	0	0	9851	1357	47	4	844	4	MRS2	6	24416723	Missense_Mutation	SNP	G	TCGA-EM-A4FV-01A-11D-A257-08		24416723	146698344	7	7428											
GABBR1	2550	broad.mit.edu	37	chr6	29591190	29591190	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgtggctgatgggtgcgtTcggaagaaagtggggaaacg	19	4	0	2			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr6:29591190T>G	ENST00000377034.4	-	8	1190	c.855A>C	c.(853-855)cgA>cgC	p.R285R	GABBR1_ENST00000355973.3_Silent_p.R168R|GABBR1_ENST00000377012.4_Silent_p.R168R|GABBR1_ENST00000377016.4_Silent_p.R223R|GABBR1_ENST00000376977.3_Silent_p.R285R	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	285					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	ATGGGTGCGTTCGGAAGAAAG	0.562																																						ENST00000377034.4																			0				endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(853-855)cgA>cgC		gamma-aminobutyric acid (GABA) B receptor, 1	Baclofen(DB00181)|Progabide(DB00837)						149	114	126					6																	29591190		2203	4300	6503	SO:0001819	synonymous_variant	0				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29591190T>G	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4070	protein-coding gene	gene with protein product	"GABA-B receptor"	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.855A>C	6.37:g.29591190T>G						GABBR1_ENST00000355973.3_Silent_p.R168R|GABBR1_ENST00000376977.3_Silent_p.R285R|GABBR1_ENST00000377016.4_Silent_p.R223R|GABBR1_ENST00000377012.4_Silent_p.R168R	p.R285R	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN			8	1190	-			285					B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Silent	SNP	ENST00000377034.4	37	c.855A>C	CCDS4663.1																																																																																				0.562	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			6	20	0	0	0	1	0	6	20					G	29591190	T	G	29591190	2	3	350	1	0	0	0	0	0	0	0	1	6155	1770	62	5		5	GABBR1	6	29591190	Silent	SNP	T	TCGA-EM-A4FV-01A-11D-A257-08	5174467	29591190	141523877	8	7429											
SFRS13B	135295	broad.mit.edu	37	chr6	89808601	89808601	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttgactgccttgctgaggtaGaccgccttggtaatgatttg	12	8	0	4			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr6:89808601G>C	ENST00000452027.2	-	5	675	c.482C>G	c.(481-483)tCt>tGt	p.S161C		NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN	serine/arginine-rich splicing factor 12	161	Arg/Ser-rich (RS domain).				cytoplasmic transport (GO:0016482)|mRNA 5'-splice site recognition (GO:0000395)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|spliceosomal tri-snRNP complex assembly (GO:0000244)	nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RS domain binding (GO:0050733)|unfolded protein binding (GO:0051082)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						TGCTGAGGTAGACCGCCTTGG	0.428																																						ENST00000452027.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						c.(481-483)tCt>tGt		serine/arginine-rich splicing factor 12							237	223	228					6																	89808601		1874	4104	5978	SO:0001583	missense	135295				assembly of spliceosomal tri-snRNP|cytoplasmic transport|negative regulation of nuclear mRNA splicing, via spliceosome|nuclear mRNA 5'-splice site recognition|regulation of alternative nuclear mRNA splicing, via spliceosome	nucleoplasm	nucleotide binding|RNA binding|RS domain binding|unfolded protein binding	g.chr6:89808601G>C	AF449428	CCDS47459.1	6q16.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000154548	ENSG00000154548		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	21220	protein-coding gene	gene with protein product	"splicing factor, arginine/serine-rich 19", "SR splicing factor 12"		"splicing factor, arginine/serine-rich 13B"	SFRS13B		11684676, 20516191	Standard	NM_080743		Approved	SRrp35, SFRS19	uc021zcq.1	Q8WXF0	OTTHUMG00000015192	ENST00000452027.2:c.482C>G	6.37:g.89808601G>C	ENSP00000414302:p.Ser161Cys						p.S161C	NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN			5	675	-			161			Arg/Ser-rich (RS domain).		B2RA22|Q5T7K0|Q8WW25	Missense_Mutation	SNP	ENST00000452027.2	37	c.482C>G	CCDS47459.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837994	0.71373	.	.	ENSG00000154548	ENST00000452027	T	0.09255	3.0	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000004	T	0.22205	0.0535	L	0.57536	1.79	0.37339	D	0.910296	D	0.76494	0.999	D	0.74674	0.984	T	0.00583	-1.1659	10	0.66056	D	0.02	.	17.4794	0.87669	0.0:0.0:1.0:0.0	.	161	Q8WXF0	SRS12_HUMAN	C	161	ENSP00000414302:S161C	ENSP00000414302:S161C	S	-	2	0	SRSF12	89865320	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.541000	0.53618	2.663000	0.90544	0.585000	0.79938	TCT		0.428	SRSF12-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041474.2	NM_080743		44	123	0	0	0	1	0	44	123					C	89808601	G	C	89808601	3	2	350	1	0	0	0	0	1	0	0	0	14169	942	33	4	307	4	SFRS13B	6	89808601	Missense_Mutation	SNP	G	TCGA-EM-A4FV-01A-11D-A257-08	60217411	89808601	81306466	9	7430											
RRAGD	58528	broad.mit.edu	37	chr6	90082246	90082246	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagcacggttgtattattaaGctttatgatggctgtggatt	11	4	0	1			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr6:90082246G>T	ENST00000369415.4	-	6	1237	c.961C>A	c.(961-963)Ctt>Att	p.L321I	RRAGD_ENST00000359203.3_Missense_Mutation_p.L170I	NM_021244.4	NP_067067.1			Ras-related GTP binding D											breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		GTATTATTAAGCTTTATGATG	0.398											OREG0017567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000369415.4																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15						c.(961-963)Ctt>Att		Ras-related GTP binding D							109	113	112					6																	90082246		2203	4300	6503	SO:0001583	missense	58528				cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity	g.chr6:90082246G>T	AF272036	CCDS5022.1	6q15-q16	2008-02-05			ENSG00000025039	ENSG00000025039			19903	protein-coding gene	gene with protein product		608268				11073942	Standard	NM_021244		Approved	DKFZP761H171, bA11D8.2.1	uc003pnd.4	Q9NQL2	OTTHUMG00000015200	ENST00000369415.4:c.961C>A	6.37:g.90082246G>T	ENSP00000358423:p.Leu321Ile		OREG0017567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1272	RRAGD_ENST00000359203.2_Missense_Mutation_p.L170I	p.L321I	NM_021244.4	NP_067067.1	Q9NQL2	RRAGD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0144)	6	1237	-		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)	321						Missense_Mutation	SNP	ENST00000369415.4	37	c.961C>A	CCDS5022.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402279	0.62288	.	.	ENSG00000025039	ENST00000369415;ENST00000359203	.	.	.	4.86	2.07	0.26955	.	0.000000	0.64402	D	0.000001	T	0.61825	0.2378	M	0.82323	2.585	0.58432	D	0.999998	D	0.60575	0.988	P	0.59487	0.858	T	0.66268	-0.5966	9	0.72032	D	0.01	-16.459	9.0447	0.36338	0.3036:0.0:0.6964:0.0	.	321	Q9NQL2	RRAGD_HUMAN	I	321;170	.	ENSP00000352131:L170I	L	-	1	0	RRAGD	90138965	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.854000	0.48325	0.468000	0.27243	0.563000	0.77884	CTT		0.398	RRAGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041484.1	NM_021244		13	30	1	0	4.3838e-07	1	4.59255e-07	13	30					T	90082246	G	T	90082246	3	4	350	1	0	0	0	0	1	0	0	0	13675	971	34	4	249	4	RRAGD	6	90082246	Missense_Mutation	SNP	G	TCGA-EM-A4FV-01A-11D-A257-08	273645	90082246	81032821	10	7431											
HOXA1	3198	broad.mit.edu	37	chr7	27134894	27134894	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgacctgttttgggagggTttcttttgactttcatccag	10	8	2	2			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr7:27134894T>C	ENST00000343060.4	-	1	699	c.638A>G	c.(637-639)aAc>aGc	p.N213S	HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000495032.1_RNA|HOXA1_ENST00000355633.5_3'UTR|HOTAIRM1_ENST00000425358.2_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	213					abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTTGGGAGGGTTTCTTTTGAC	0.488																																						ENST00000343060.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(637-639)aAc>aGc		homeobox A1							46	53	50					7																	27134894		2203	4300	6503	SO:0001583	missense	3198					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27134894T>C		CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"Homeoboxes / ANTP class : HOXL subclass"	5099	protein-coding gene	gene with protein product		142955	"homeo box A1"	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.638A>G	7.37:g.27134894T>C	ENSP00000343246:p.Asn213Ser					HOXA1_ENST00000355633.5_3'UTR	p.N213S	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN			1	699	-			213					A4D184|B2R8U7|O43363	Missense_Mutation	SNP	ENST00000343060.4	37	c.638A>G	CCDS5401.1	.	.	.	.	.	.	.	.	.	.	T	18.59	3.657009	0.67586	.	.	ENSG00000105991	ENST00000343060	D	0.90563	-2.69	5.01	5.01	0.66863	.	0.192452	0.53938	D	0.000054	D	0.95564	0.8558	M	0.86805	2.84	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	D	0.96277	0.9203	10	0.87932	D	0	.	14.551	0.68068	0.0:0.0:0.0:1.0	.	213	P49639	HXA1_HUMAN	S	213	ENSP00000343246:N213S	ENSP00000343246:N213S	N	-	2	0	HOXA1	27101419	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.265000	0.78442	2.110000	0.64415	0.459000	0.35465	AAC		0.488	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			5	31	0	0	0	1	0	5	31					C	27134894	T	C	27134894	3	2	350	1	0	0	0	0	1	0	0	0	7288	1725	60	3	377	3	HOXA1	7	27134894	Missense_Mutation	SNP	T	TCGA-EM-A4FV-01A-11D-A257-08		27134894	132003769	11	7432											
DLX6	1750	broad.mit.edu	37	chr7	96635420	96635421	+	In_Frame_Ins	INS	-	-	GCC													cagcagcagcaacagcaacaINSgccgccgccgccgccgccgc					rs527616759|rs570498188|rs559903070|rs374304439	byFrequency	TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr7:96635420_96635421insGCC	ENST00000518156.2	+	1	561_562	c.131_132insGCC	c.(130-135)cagccg>caGCCgccg	p.53_54insP	DLX6_ENST00000007660.5_Intron|DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000431497.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6_ENST00000555308.1_5'Flank|DLX6-AS1_ENST00000430027.3_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	0					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					caacagcaacagccgccgccgc	0.698														532	0.10623	0.0076	0.0893	5008	,	,		7133	0.0685		0.1948	False		,,,				2504	0.1994					ENST00000518156.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(130-132)ccc>cGCCcc		distal-less homeobox 6																																				SO:0001652	inframe_insertion	1750				nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:96635420_96635421insGCC		CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"Homeoboxes / ANTP class : NKL subclass"	2919	protein-coding gene	gene with protein product		600030	"distal-less homeo box 6"			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.156_158dupGCC	7.37:g.96635427_96635429dupGCC	ENSP00000428480:p.Pro54_Pro55dup					DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000605417.1_RNA	p.43_44insR			P56179	DLX6_HUMAN			1	561_562	+	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		0					A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	In_Frame_Ins	INS	ENST00000518156.2	37	c.131_132insGCC	CCDS47647.2																																																																																				0.698	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	NM_005222		3	6						3	6	---	---	---	---	GCC	96635421	-	GCC	96635420	7	5	350	1	0	1	1	0	0	0	0	0	4575	188	7	0	133	0	DLX6	7	96635420	In_Frame_Ins	INS	-	TCGA-EM-A4FV-01A-11D-A257-08	69500526	96635420	62503243	12	7433											
IFRD1	3475	broad.mit.edu	37	chr7	112112868	112112868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacttggacccccagtgatGcttgatgctgcaacgcttaa	10	11	0	2			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr7:112112868G>A	ENST00000403825.3	+	11	1479	c.1218G>A	c.(1216-1218)atG>atA	p.M406I	IFRD1_ENST00000535603.1_Missense_Mutation_p.M356I|IFRD1_ENST00000005558.4_Missense_Mutation_p.M406I	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	406				LGPPVMLDAAT -> TWTPSDALMLQR (in Ref. 1; CAA71366). {ECO:0000305}.	adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						CCCCAGTGATGCTTGATGCTG	0.353																																						ENST00000403825.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						c.(1216-1218)atG>atA		interferon-related developmental regulator 1							136	138	137					7																	112112868		2203	4300	6503	SO:0001583	missense	3475				multicellular organismal development|myoblast cell fate determination		binding	g.chr7:112112868G>A	Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652			5456	protein-coding gene	gene with protein product		603502				9722946	Standard	NM_001550		Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.1218G>A	7.37:g.112112868G>A	ENSP00000384477:p.Met406Ile					IFRD1_ENST00000535603.1_Missense_Mutation_p.M356I|IFRD1_ENST00000005558.4_Missense_Mutation_p.M406I	p.M406I	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN			11	1479	+			406	LGPPVMLDAAT -> TWTPSDALMLQR (in Ref. 1; CAA71366).				B7Z5G1|O75234|Q5U013|Q9BVE4	Missense_Mutation	SNP	ENST00000403825.3	37	c.1218G>A	CCDS34736.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733902	0.48939	.	.	ENSG00000006652	ENST00000005558;ENST00000403825;ENST00000536259;ENST00000535603;ENST00000462155	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	5.81	5.81	0.92471	Interferon-related developmental regulator, C-terminal (1);	0.152313	0.64402	D	0.000006	T	0.19685	0.0473	N	0.00926	-1.1	0.53688	D	0.999975	B;B	0.15719	0.014;0.014	B;B	0.20577	0.03;0.03	T	0.21449	-1.0245	10	0.17369	T	0.5	-21.0785	19.6448	0.95771	0.0:0.0:1.0:0.0	.	406;406	A4D0U1;O00458	.;IFRD1_HUMAN	I	406;406;141;356;69	ENSP00000005558:M406I;ENSP00000384477:M406I;ENSP00000439188:M356I;ENSP00000435635:M69I	ENSP00000005558:M406I	M	+	3	0	IFRD1	111900104	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.833000	0.69349	2.753000	0.94483	0.637000	0.83480	ATG		0.353	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1	NM_001550		7	41	0	0	0	1	0	7	41					A	112112868	G	A	112112868	3	1	350	1	0	0	0	0	1	0	0	0	7553	1319	46	2	1260	2	IFRD1	7	112112868	Missense_Mutation	SNP	G	TCGA-EM-A4FV-01A-11D-A257-08	15477448	112112868	47025795	13	7434											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		5	35	0	0	0	1	0	5	35					T	140453136	A	T	140453136	3	4	350	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A4FV-01A-11D-A257-08	28340268	140453136	18685527	14	7435											
ZNF467	168544	broad.mit.edu	37	chr7	149462027	149462027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttttggagctgaagctgcGggcgcagacggcgcaggcgt	19	9	0	2			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr7:149462027G>A	ENST00000302017.3	-	5	1977	c.1564C>T	c.(1564-1566)Cgc>Tgc	p.R522C	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	522					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGAAGCTGCGGGCGCAGACG	0.701																																						ENST00000302017.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13						c.(1564-1566)Cgc>Tgc		zinc finger protein 467							32	38	36					7																	149462027		2195	4293	6488	SO:0001583	missense	168544				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149462027G>A	BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"Zinc fingers, C2H2-type"	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.1564C>T	7.37:g.149462027G>A	ENSP00000304769:p.Arg522Cys					ZNF467_ENST00000484747.1_Intron	p.R522C	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		5	1977	-	Melanoma(164;0.165)|Ovarian(565;0.177)		522						Missense_Mutation	SNP	ENST00000302017.3	37	c.1564C>T	CCDS5899.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.542809	0.65198	.	.	ENSG00000181444	ENST00000302017	T	0.16196	2.36	3.82	3.82	0.43975	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.276112	0.19252	U	0.118891	T	0.38081	0.1027	M	0.72894	2.215	0.45648	D	0.998579	D	0.89917	1.0	D	0.75484	0.986	T	0.18650	-1.0330	10	0.87932	D	0	-11.9164	10.3651	0.44019	0.0:0.0:0.6817:0.3183	.	522	Q7Z7K2	ZN467_HUMAN	C	522	ENSP00000304769:R522C	ENSP00000304769:R522C	R	-	1	0	ZNF467	149092960	0.921000	0.31238	1.000000	0.80357	0.987000	0.75469	2.044000	0.41241	1.989000	0.58080	0.462000	0.41574	CGC		0.701	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336		5	18	0	0	0	1	0	5	18					A	149462027	G	A	149462027	3	1	350	1	0	0	0	0	1	0	0	0	17924	1116	39	1	227	1	ZNF467	7	149462027	Missense_Mutation	SNP	G	TCGA-EM-A4FV-01A-11D-A257-08	9008891	149462027	9676636	15	7436											
GTPBP4	23560	broad.mit.edu	37	chr10	1046799	1046799	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagaacatcagacctctcttCatcaacaaggtgtgtgtggt	9	10	4	2			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr10:1046799C>T	ENST00000360803.4	+	7	919	c.837C>T	c.(835-837)ttC>ttT	p.F279F	GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000538293.1_Silent_p.F163F|GTPBP4_ENST00000545048.1_Silent_p.F232F	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	279	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		GACCTCTCTTCATCAACAAGG	0.463																																						ENST00000360803.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21						c.(835-837)ttC>ttT		GTP binding protein 4							222	215	218					10																	1046799		2203	4300	6503	SO:0001819	synonymous_variant	23560				negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	g.chr10:1046799C>T	AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"G protein-binding protein CRFG", " GTP-binding protein"					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.837C>T	10.37:g.1046799C>T						GTPBP4_ENST00000545048.1_Silent_p.F232F|GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000538293.1_Silent_p.F163F	p.F279F	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)	7	919	+		all_epithelial(10;0.107)|Colorectal(49;0.14)	279					B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Silent	SNP	ENST00000360803.4	37	c.837C>T	CCDS31132.1																																																																																				0.463	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046412.1	NM_012341		6	75	0	0	0	1	0	6	75					T	1046799	C	T	1046799	2	4	350	1	0	0	0	0	0	0	0	1	6882	825	29	2		2	GTPBP4	10	1046799	Silent	SNP	C	TCGA-EM-A4FV-01A-11D-A257-08		1046799	134487948	16	7437											
KIAA0913	23053	broad.mit.edu	37	chr10	75554317	75554317	+	Frame_Shift_Del	DEL	C	C	-													agtggtttctcccacaggttCccggcccccaagtcgcaact							TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr10:75554317delC	ENST00000605216.1	+	14	3030	c.2813delC	c.(2812-2814)tccfs	p.S938fs	ZSWIM8_ENST00000604524.1_Frame_Shift_Del_p.S938fs|ZSWIM8_ENST00000398706.2_Frame_Shift_Del_p.S943fs|ZSWIM8_ENST00000603114.1_Frame_Shift_Del_p.S905fs|ZSWIM8_ENST00000604729.1_Frame_Shift_Del_p.S943fs|ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000431225.1_3'UTR	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	938							zinc ion binding (GO:0008270)										CCCACAGGTTCCCGGCCCCCA	0.498																																						ENST00000604729.1																			0											c.(2827-2829)tcfs		zinc finger, SWIM-type containing 8							34	34	34					10																	75554317		1906	4104	6010	SO:0001589	frameshift_variant	23053							g.chr10:75554317delC	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"Zinc fingers, SWIM-type"	23528	protein-coding gene	gene with protein product			"KIAA0913"	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.2813delC	10.37:g.75554317delC	ENSP00000474748:p.Ser938fs					ZSWIM8_ENST00000604524.1_Frame_Shift_Del_p.S938fs|ZSWIM8_ENST00000398706.2_Frame_Shift_Del_p.S943fs|ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8_ENST00000605216.1_Frame_Shift_Del_p.S938fs|ZSWIM8_ENST00000603114.1_Frame_Shift_Del_p.S905fs	p.S943fs							14	3125	+								B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Frame_Shift_Del	DEL	ENST00000605216.1	37	c.2828delC																																																																																					0.498	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		2	4						2	4	---	---	---	---	-	75554317	C	-	75554317	7	5	350	1	0	1	0	1	0	0	0	0	8200	855	30	0	2882	0	KIAA0913	10	75554317	Frame_Shift_Del	DEL	C	TCGA-EM-A4FV-01A-11D-A257-08	74507518	75554317	59980430	17	7438											
GSTO2	119391	broad.mit.edu	37	chr10	106035045	106035045	+	Frame_Shift_Del	DEL	C	C	-													atctacagcatgaggttctgCccctattctcacaggacccg							TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr10:106035045delC	ENST00000338595.2	+	3	416	c.96delC	c.(94-96)tgcfs	p.C32fs	GSTO2_ENST00000369707.2_Frame_Shift_Del_p.C4fs|GSTO2_ENST00000477078.2_Intron|GSTO2_ENST00000450629.2_Frame_Shift_Del_p.C32fs|GSTO2_ENST00000401888.2_Frame_Shift_Del_p.C32fs|GSTO2_ENST00000429569.2_Frame_Shift_Del_p.C4fs	NM_183239.1	NP_899062.1	Q9H4Y5	GSTO2_HUMAN	glutathione S-transferase omega 2	32	GST N-terminal.				cellular response to arsenic-containing substance (GO:0071243)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione dehydrogenase (ascorbate) activity (GO:0045174)|glutathione transferase activity (GO:0004364)|methylarsonate reductase activity (GO:0050610)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.178)		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	Glutathione(DB00143)	TGAGGTTCTGCCCCTATTCTC	0.642											OREG0020515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000450629.2																			0				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(94-96)tgfs		glutathione S-transferase omega 2	Glutathione(DB00143)						77	84	82					10																	106035045		2203	4300	6503	SO:0001589	frameshift_variant	119391				water-soluble vitamin metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr10:106035045delC	AY191318	CCDS7556.1, CCDS53574.1, CCDS53575.1	10q25.1	2012-06-21			ENSG00000065621	ENSG00000065621	2.5.1.18, 1.8.5.1, 1.20.4.2	"Glutathione S-transferases / Soluble"	23064	protein-coding gene	gene with protein product		612314				12618591	Standard	NM_001191013		Approved		uc001kyb.3	Q9H4Y5	OTTHUMG00000019006	ENST00000338595.2:c.96delC	10.37:g.106035045delC	ENSP00000345023:p.Cys32fs		OREG0020515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1393	GSTO2_ENST00000477078.2_Intron|GSTO2_ENST00000401888.2_Frame_Shift_Del_p.C32fs|GSTO2_ENST00000338595.2_Frame_Shift_Del_p.C32fs|GSTO2_ENST00000429569.2_Frame_Shift_Del_p.C4fs|GSTO2_ENST00000369707.1_Frame_Shift_Del_p.C4fs	p.C32fs	NM_001191013.1	NP_001177942.1	Q9H4Y5	GSTO2_HUMAN		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	3	724	+		Colorectal(252;0.178)	32			GST N-terminal.		A8K771|B4DJW6|E7ESD6|Q49TW5|Q5GM70|Q5JU15|Q86WP3	Frame_Shift_Del	DEL	ENST00000338595.2	37	c.96delC	CCDS7556.1																																																																																				0.642	GSTO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050210.2	NM_183239		9	44						9	44	---	---	---	---	-	106035045	C	-	106035045	7	5	350	1	0	1	0	1	0	0	0	0	6843	747	26	0	102	0	GSTO2	10	106035045	Frame_Shift_Del	DEL	C	TCGA-EM-A4FV-01A-11D-A257-08	30480728	106035045	29499702	18	7439											
OR8D1	283159	broad.mit.edu	37	chr11	124180036	124180036	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcaacagctagggtgggCaccaaggtgttaaaccccgc	12	12	0	0			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr11:124180036C>T	ENST00000357821.2	-	1	697	c.627G>A	c.(625-627)gtG>gtA	p.V209V		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		CTAGGGTGGGCACCAAGGTGT	0.498																																						ENST00000357821.2																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(625-627)gtG>gtA		olfactory receptor, family 8, subfamily D, member 1							57	45	49					11																	124180036		2201	4299	6500	SO:0001819	synonymous_variant	283159				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124180036C>T	AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"GPCR / Class A : Olfactory receptors"	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.627G>A	11.37:g.124180036C>T							p.V209V	NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	1	697	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	209					B2RNL4|Q6IEW1|Q8NGH0	Silent	SNP	ENST00000357821.2	37	c.627G>A	CCDS31706.1																																																																																				0.498	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387285.1	NM_001002917		5	32	0	0	0	1	0	5	32					T	124180036	C	T	124180036	2	4	350	1	0	0	0	0	0	0	0	1	11231	697	25	2		2	OR8D1	11	124180036	Silent	SNP	C	TCGA-EM-A4FV-01A-11D-A257-08		124180036	10826480	19	7440											
KRAS	3845	broad.mit.edu	37	chr12	25380277	25380277	+	Missense_Mutation	SNP	G	G	T													cattgcactgtactcctcttGacctgctgtgtcgagaatat					rs121913238		TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr12:25380277G>T	ENST00000256078.4	-	3	244	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K	KRAS_ENST00000311936.3_Missense_Mutation_p.Q61K|KRAS_ENST00000557334.1_Intron|AC087239.1_ENST00000594112.1_5'Flank	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16533793, ECO:0000269|Ref.7}.|Q -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61K(32)|p.Q61E(10)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TACTCCTCTTGACCTGCTGTG	0.413	Q61K(CALU6_LUNG)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	Q61K(CALU6_LUNG)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	42	Substitution - Missense(42)	p.Q61K(32)|p.Q61E(10)	large_intestine(13)|lung(11)|thyroid(3)|upper_aerodigestive_tract(3)|central_nervous_system(3)|urinary_tract(2)|prostate(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)|kidney(1)|pancreas(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(181-183)Caa>Aaa		Kirsten rat sarcoma viral oncogene homolog							109	97	101					12																	25380277		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25380277G>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.181C>A	12.37:g.25380277G>T	ENSP00000256078:p.Gln61Lys	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.Q61K	p.Q61K	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		3	372	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		61		Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.181C>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341837	0.81911	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.83506	-1.73;-1.73	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.89100	0.6619	M	0.93808	3.46	0.80722	D	1	B;B	0.24768	0.111;0.039	B;B	0.29663	0.058;0.105	D	0.87412	0.2376	10	0.62326	D	0.03	.	19.3504	0.94381	0.0:0.0:1.0:0.0	.	61;61	P01116-2;P01116	.;RASK_HUMAN	K	61	ENSP00000308495:Q61K;ENSP00000256078:Q61K	ENSP00000256078:Q61K	Q	-	1	0	KRAS	25271544	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.796000	0.99103	2.885000	0.99019	0.655000	0.94253	CAA		0.413	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		10	24	1	0	2.17888e-05	1	2.22955e-05	10	24					T	25380277	G	T	25380277	3	4	350	1	0	0	0	0	1	0	0	0	8438	1299	45	4	521	4	KRAS	12	25380277	Missense_Mutation	SNP	G	TCGA-EM-A4FV-01A-11D-A257-08		25380277	108471618	20	7441	43	2									
KRAS	3845	broad.mit.edu	37	chr12	25380278	25380278	+	Silent	SNP	A	A	T													attgcactgtactcctcttgAcctgctgtgtcgagaatatc					rs397517037		TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr12:25380278A>T	ENST00000256078.4	-	3	243	c.180T>A	c.(178-180)ggT>ggA	p.G60G	KRAS_ENST00000311936.3_Silent_p.G60G|KRAS_ENST00000557334.1_Intron|AC087239.1_ENST00000594112.1_5'Flank	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	60			G -> R (in CFC2; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors). {ECO:0000269|PubMed:16474404}.|G -> S (in NS3). {ECO:0000269|PubMed:19396835}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61K(6)|p.G60G(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			ACTCCTCTTGACCTGCTGTGT	0.413		119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3		119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	7	Substitution - Missense(6)|Substitution - coding silent(1)	p.Q61K(6)|p.G60G(1)	large_intestine(5)|urinary_tract(1)|lung(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(178-180)ggT>ggA		Kirsten rat sarcoma viral oncogene homolog							108	96	100					12																	25380278		2203	4300	6503	SO:0001819	synonymous_variant	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25380278A>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.180T>A	12.37:g.25380278A>T		TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Silent_p.G60G	p.G60G	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		3	371	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		60		G -> R (in CFC syndrome; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors).|G -> S (in NS3).			A8K8Z5|B0LPF9|P01118|Q96D10	Silent	SNP	ENST00000256078.4	37	c.180T>A	CCDS8703.1																																																																																				0.413	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		11	22	0	0	0	1	0	11	22					T	25380278	A	T	25380278	2	4	350	1	0	0	0	0	0	0	0	1	8438	262	10	5		5	KRAS	12	25380278	Silent	SNP	A	TCGA-EM-A4FV-01A-11D-A257-08	1	25380278	108471617	21	7442	43	2									
ANAPC7	51434	broad.mit.edu	37	chr12	110812081	110812081	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgagtggcatccgtgggactCtcctccttctccatcttctg	9	14	4	1			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr12:110812081C>T	ENST00000455511.3	-	11	1668	c.1668G>A	c.(1666-1668)gaG>gaA	p.E556E	ANAPC7_ENST00000481473.1_5'UTR	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	556					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						CCGTGGGACTCTCCTCCTTCT	0.577																																						ENST00000455511.3																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						c.(1666-1668)gaG>gaA		anaphase promoting complex subunit 7							134	104	114					12																	110812081		2203	4300	6503	SO:0001819	synonymous_variant	51434				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding	g.chr12:110812081C>T	AF191340	CCDS9145.2, CCDS44971.1	12q13.12	2013-01-10			ENSG00000196510	ENSG00000196510		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	17380	protein-coding gene	gene with protein product		606949					Standard	NM_016238		Approved	APC7	uc001tqo.2	Q9UJX3	OTTHUMG00000157009	ENST00000455511.3:c.1668G>A	12.37:g.110812081C>T						ANAPC7_ENST00000481473.1_5'UTR	p.E556E	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN			11	1668	-			556					Q96AC4|Q96GF4|Q9BU24|Q9NT16	Silent	SNP	ENST00000455511.3	37	c.1668G>A	CCDS9145.2	.	.	.	.	.	.	.	.	.	.	C	9.405	1.079000	0.20227	.	.	ENSG00000196510	ENST00000552087	.	.	.	5.88	5.88	0.94601	.	0.089296	0.85682	N	0.000000	T	0.36110	0.0955	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20075	-1.0286	6	0.06365	T	0.9	-29.7449	11.1882	0.48669	0.0:0.8901:0.0:0.1099	.	.	.	.	K	106	.	ENSP00000450293:E106K	E	-	1	0	ANAPC7	109296464	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.476000	0.45171	2.797000	0.96272	0.561000	0.74099	GAG		0.577	ANAPC7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347075.3	NM_016238		3	28	0	0	0	1	0	3	28					T	110812081	C	T	110812081	2	4	350	1	0	0	0	0	0	0	0	1	606	912	32	2		2	ANAPC7	12	110812081	Silent	SNP	C	TCGA-EM-A4FV-01A-11D-A257-08	85431803	110812081	23039814	22	7443											
TMEM132D	121256	broad.mit.edu	37	chr12	130184920	130184920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcaggtagactttgtcccGcaggatgtgggcttttagtt	13	8	1	1	rs138159153		TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr12:130184920G>A	ENST00000422113.2	-	2	729	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	135					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.R135R(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ACTTTGTCCCGCAGGATGTGG	0.537													G|||	1	0.000199681	8e-04	0	5008	,	,		16904	0		0	False		,,,				2504	0					ENST00000422113.2																			1	Substitution - coding silent(1)	p.R135R(1)	lung(1)	NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(403-405)Cgg>Tgg		transmembrane protein 132D							43	43	43					12																	130184920		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:130184920G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.403C>T	12.37:g.130184920G>A	ENSP00000408581:p.Arg135Trp						p.R135W	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	729	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	135					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.403C>T	CCDS9266.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	12.19	1.862136	0.32884	.	.	ENSG00000151952	ENST00000422113	T	0.43688	0.94	5.33	3.29	0.37713	.	0.724775	0.12196	N	0.490699	T	0.35740	0.0942	L	0.55481	1.735	0.27218	N	0.959742	D	0.60160	0.987	P	0.46825	0.528	T	0.20907	-1.0261	9	.	.	.	-20.9295	11.7955	0.52098	0.0:0.0:0.4054:0.5946	.	135	Q14C87	T132D_HUMAN	W	135	ENSP00000408581:R135W	.	R	-	1	2	TMEM132D	128750873	0.988000	0.35896	0.978000	0.43139	0.536000	0.34869	3.137000	0.50562	1.197000	0.43143	0.555000	0.69702	CGG		0.537	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		7	23	0	0	0	1	0	7	23					A	130184920	G	A	130184920	3	1	350	1	0	0	0	0	1	0	0	0	16044	1086	38	1	2928	1	TMEM132D	12	130184920	Missense_Mutation	SNP	G	TCGA-EM-A4FV-01A-11D-A257-08	19372839	130184920	3666975	23	7444											
SLITRK6	84189	broad.mit.edu	37	chr13	86370229	86370229	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttatctgcttgcaggaattCcaggttttccagtccatgga	10	9	1	0			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr13:86370229C>T	ENST00000400286.2	-	2	1013	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	139					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TGCAGGAATTCCAGGTTTTCC	0.363																																						ENST00000400286.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(415-417)Gaa>Aaa		SLIT and NTRK-like family, member 6							111	104	106					13																	86370229		1837	4083	5920	SO:0001583	missense	84189					integral to membrane		g.chr13:86370229C>T	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.415G>A	13.37:g.86370229C>T	ENSP00000383143:p.Glu139Lys						p.E139K	NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	1013	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		139					A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	c.415G>A	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.472755	0.84640	.	.	ENSG00000184564	ENST00000400286	T	0.55052	0.54	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.62648	0.2445	N	0.21448	0.665	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.61845	-0.6979	10	0.49607	T	0.09	-20.2109	19.4432	0.94831	0.0:1.0:0.0:0.0	.	139	Q9H5Y7	SLIK6_HUMAN	K	139	ENSP00000383143:E139K	ENSP00000383143:E139K	E	-	1	0	SLITRK6	85268230	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAA		0.363	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		11	94	0	0	0	1	0	11	94					T	86370229	C	T	86370229	3	4	350	1	0	0	0	0	1	0	0	0	14747	864	30	2	2114	2	SLITRK6	13	86370229	Missense_Mutation	SNP	C	TCGA-EM-A4FV-01A-11D-A257-08		86370229	28799649	24	7445											
CYTH1	9267	broad.mit.edu	37	chr17	76697789	76697789	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gattaagatcagtgaactcaTgcagctccacaaatgcatga	8	9	2	3			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr17:76697789T>A	ENST00000446868.3	-	6	471	c.401A>T	c.(400-402)cAt>cTt	p.H134L	CYTH1_ENST00000591455.1_Missense_Mutation_p.H134L|CYTH1_ENST00000589297.1_Missense_Mutation_p.H75L|CYTH1_ENST00000585509.1_Missense_Mutation_p.H75L|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000361101.4_Missense_Mutation_p.H134L			Q15438	CYH1_HUMAN	cytohesin 1	134	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				establishment of epithelial cell polarity (GO:0090162)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						AGTGAACTCATGCAGCTCCAC	0.463																																						ENST00000589297.1																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						c.(223-225)cAt>cTt		cytohesin 1							153	153	153					17																	76697789		2203	4300	6503	SO:0001583	missense	9267				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr17:76697789T>A	M85169	CCDS32754.1, CCDS42392.2	17q25	2014-05-02	2008-08-14	2008-08-14	ENSG00000108669	ENSG00000108669		"Pleckstrin homology (PH) domain containing"	9501	protein-coding gene	gene with protein product		182115	"pleckstrin homology, Sec7 and coiled-coil domains 1"	PSCD1		1511013, 8449036, 21628335, 20018626	Standard	XM_006722180		Approved	B2-1, D17S811E, cytohesin-1	uc002jvw.3	Q15438	OTTHUMG00000150253	ENST00000446868.3:c.401A>T	17.37:g.76697789T>A	ENSP00000389095:p.His134Leu					CYTH1_ENST00000446868.3_Missense_Mutation_p.H134L|CYTH1_ENST00000361101.4_Missense_Mutation_p.H134L|CYTH1_ENST00000591455.1_Missense_Mutation_p.H134L|CYTH1_ENST00000585509.1_Missense_Mutation_p.H75L|CYTH1_ENST00000589296.1_Intron	p.H75L			Q15438	CYH1_HUMAN			6	916	-			134			SEC7.		A6NFW7|B7Z1T4|Q9P123|Q9P124	Missense_Mutation	SNP	ENST00000446868.3	37	c.224A>T		.	.	.	.	.	.	.	.	.	.	T	15.48	2.847394	0.51164	.	.	ENSG00000108669	ENST00000446868;ENST00000361101;ENST00000539525;ENST00000537048;ENST00000262763;ENST00000434577;ENST00000416418	T;T	0.52754	0.65;0.65	4.95	4.95	0.65309	SEC7-like (4);	0.092214	0.85682	D	0.000000	T	0.47248	0.1435	L	0.49126	1.545	0.80722	D	1	B;P	0.39520	0.115;0.676	B;P	0.45712	0.208;0.491	T	0.34800	-0.9814	10	0.09338	T	0.73	.	14.6307	0.68653	0.0:0.0:0.0:1.0	.	134;134	Q15438;Q15438-2	CYH1_HUMAN;.	L	134;134;75;75;134;145;136	ENSP00000389095:H134L;ENSP00000354398:H134L	ENSP00000262763:H134L	H	-	2	0	CYTH1	74209384	1.000000	0.71417	0.370000	0.25965	0.518000	0.34316	7.928000	0.87587	1.842000	0.53543	0.460000	0.39030	CAT		0.463	CYTH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317099.1	NM_004762		6	83	0	0	0	1	0	6	83					A	76697789	T	A	76697789	3	1	350	1	0	0	0	0	1	0	0	0	4203	1464	51	5	827	5	CYTH1	17	76697789	Missense_Mutation	SNP	T	TCGA-EM-A4FV-01A-11D-A257-08		76697789	4497421	25	7446											
MCOLN1	57192	broad.mit.edu	37	chr19	7595248	7595248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtttgtgacgttcgccgCcatgcaggcgcagcagggcc	14	13	0	1			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr19:7595248C>T	ENST00000264079.6	+	12	1561	c.1436C>T	c.(1435-1437)gCc>gTc	p.A479V		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	479					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACGTTCGCCGCCATGCAGGCG	0.602																																						ENST00000264079.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1435-1437)gCc>gTc		mucolipin 1							227	214	219					19																	7595248		2203	4300	6503	SO:0001583	missense	57192				calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity	g.chr19:7595248C>T	AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"Voltage-gated ion channels / Transient receptor potential cation channels"	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.1436C>T	19.37:g.7595248C>T	ENSP00000264079:p.Ala479Val						p.A479V	NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN			12	1561	+			479					D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Missense_Mutation	SNP	ENST00000264079.6	37	c.1436C>T	CCDS12180.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.170020	0.38315	.	.	ENSG00000090674	ENST00000264079;ENST00000394321	D	0.84370	-1.84	5.29	5.29	0.74685	Polycystin cation channel, PKD1/PKD2 (1);	0.173686	0.51477	D	0.000093	T	0.77644	0.4161	N	0.24115	0.695	0.30429	N	0.777311	B;P	0.35383	0.126;0.498	B;B	0.40329	0.113;0.326	T	0.74785	-0.3547	10	0.27082	T	0.32	.	11.508	0.50479	0.1792:0.8208:0.0:0.0	.	444;479	Q9GZU1-2;Q9GZU1	.;MCLN1_HUMAN	V	479;444	ENSP00000264079:A479V	ENSP00000264079:A479V	A	+	2	0	MCOLN1	7501248	0.201000	0.23410	0.164000	0.22755	0.892000	0.51952	0.927000	0.28818	2.478000	0.83669	0.563000	0.77884	GCC		0.602	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	NM_020533		14	157	0	0	0	1	0	14	157					T	7595248	C	T	7595248	3	4	350	1	0	0	0	0	1	0	0	0	9395	739	26	2	1482	2	MCOLN1	19	7595248	Missense_Mutation	SNP	C	TCGA-EM-A4FV-01A-11D-A257-08		7595248	51533735	26	7447											
COL5A3	50509	broad.mit.edu	37	chr19	10079134	10079134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttctcaccagcttctcccGgggggccaatgagaccgatc	10	15	2	1	rs199706331		TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr19:10079134G>A	ENST00000264828.3	-	59	4326	c.4241C>T	c.(4240-4242)cCg>cTg	p.P1414L		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1414	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			AGCTTCTCCCGGGGGGCCAAT	0.592																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(4240-4242)cCg>cTg		collagen, type V, alpha 3							88	99	96					19																	10079134		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10079134G>A	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.4241C>T	19.37:g.10079134G>A	ENSP00000264828:p.Pro1414Leu						p.P1414L	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		59	4326	-			1414			Triple-helical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.4241C>T	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.345327	0.41498	.	.	ENSG00000080573	ENST00000264828	D	0.97731	-4.51	4.13	4.13	0.48395	.	0.000000	0.64402	D	0.000001	D	0.96522	0.8865	M	0.86953	2.85	0.80722	D	1	P	0.51653	0.947	B	0.34931	0.192	D	0.96778	0.9573	10	0.62326	D	0.03	.	13.9481	0.64099	0.0:0.0:1.0:0.0	.	1414	P25940	CO5A3_HUMAN	L	1414	ENSP00000264828:P1414L	ENSP00000264828:P1414L	P	-	2	0	COL5A3	9940134	1.000000	0.71417	0.991000	0.47740	0.097000	0.18754	7.142000	0.77339	2.132000	0.65825	0.591000	0.81541	CCG		0.592	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		15	82	0	0	0	1	0	15	82					A	10079134	G	A	10079134	3	1	350	1	0	0	0	0	1	0	0	0	3698	1116	39	1	1032	1	COL5A3	19	10079134	Missense_Mutation	SNP	G	TCGA-EM-A4FV-01A-11D-A257-08	2483886	10079134	49049849	27	7448											
IRF3	3661	broad.mit.edu	37	chr19	50165518	50165518	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaccagccgcaggccctcCgggcaggagatggtctgctg	14	16	1	1			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr19:50165518C>T	ENST00000597198.1	-	6	1050	c.669G>A	c.(667-669)ccG>ccA	p.P223P	IRF3_ENST00000601291.1_Silent_p.P223P|IRF3_ENST00000377135.4_Intron|IRF3_ENST00000599223.1_Intron|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000598808.1_Silent_p.P77P|IRF3_ENST00000593922.1_Silent_p.P77P|IRF3_ENST00000377139.3_Silent_p.P223P|IRF3_ENST00000599144.1_Silent_p.P77P|IRF3_ENST00000596822.1_Intron|IRF3_ENST00000309877.7_Silent_p.P223P|IRF3_ENST00000599680.1_5'Flank|IRF3_ENST00000600911.1_Silent_p.P223P|IRF3_ENST00000596765.1_Intron			Q14653	IRF3_HUMAN	interferon regulatory factor 3	223	Involved in HERC5 binding.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dsRNA (GO:0071359)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage apoptotic process (GO:0071888)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of interferon-beta biosynthetic process (GO:0045358)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|programmed necrotic cell death (GO:0097300)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		GCAGGCCCTCCGGGCAGGAGA	0.657																																						ENST00000597198.1																			0				breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10						c.(667-669)ccG>ccA		interferon regulatory factor 3							36	42	40					19																	50165518		2203	4299	6502	SO:0001819	synonymous_variant	3661				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr19:50165518C>T		CCDS12775.1, CCDS56099.1, CCDS59407.1, CCDS59408.1, CCDS59409.1	19q13.3-q13.4	2008-07-16				ENSG00000126456			6118	protein-coding gene	gene with protein product		603734				8524823	Standard	NM_001571		Approved		uc002pow.3	Q14653		ENST00000597198.1:c.669G>A	19.37:g.50165518C>T						IRF3_ENST00000596765.1_Intron|IRF3_ENST00000377139.3_Silent_p.P223P|IRF3_ENST00000600911.1_Silent_p.P223P|IRF3_ENST00000593922.1_Silent_p.P77P|IRF3_ENST00000599223.1_Intron|IRF3_ENST00000377135.4_Intron|IRF3_ENST00000596822.1_Intron|IRF3_ENST00000309877.7_Silent_p.P223P|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000599144.1_Silent_p.P77P|IRF3_ENST00000601291.1_Silent_p.P223P|IRF3_ENST00000598808.1_Silent_p.P77P	p.P223P			Q14653	IRF3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)	6	1050	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	223			Involved in HERC5 binding.		A8K7L2|B2RAZ3|Q5FBY1|Q5FBY2|Q5FBY4|Q7Z5G6	Silent	SNP	ENST00000597198.1	37	c.669G>A	CCDS12775.1																																																																																				0.657	IRF3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465962.1	NM_001571		4	30	0	0	0	1	0	4	30					T	50165518	C	T	50165518	2	4	350	1	0	0	0	0	0	0	0	1	7831	639	23	1		1	IRF3	19	50165518	Silent	SNP	C	TCGA-EM-A4FV-01A-11D-A257-08	40086384	50165518	8963465	28	7449											
VN1R2	317701	broad.mit.edu	37	chr19	53762045	53762045	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtagctgactccttggttatCctatctaaaagaatcccaga	7	10	1	3			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr19:53762045C>T	ENST00000341702.3	+	1	501	c.417C>T	c.(415-417)atC>atT	p.I139I		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	139					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		CCTTGGTTATCCTATCTAAAA	0.383																																						ENST00000341702.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31						c.(415-417)atC>atT		vomeronasal 1 receptor 2							77	80	79					19																	53762045		2203	4300	6503	SO:0001819	synonymous_variant	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53762045C>T	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.417C>T	19.37:g.53762045C>T							p.I139I	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	1	501	+			139					A1L411|Q8TDU4	Silent	SNP	ENST00000341702.3	37	c.417C>T	CCDS12862.1																																																																																				0.383	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		11	36	0	0	0	1	0	11	36					T	53762045	C	T	53762045	2	4	350	1	0	0	0	0	0	0	0	1	17176	845	30	2		2	VN1R2	19	53762045	Silent	SNP	C	TCGA-EM-A4FV-01A-11D-A257-08	3596527	53762045	5366938	29	7450											
EIF1AX	1964	broad.mit.edu	37	chrX	20148726	20148726	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atcagtttcattgattttagCtaaggacacagtaagaaata	7	5	2	2			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chrX:20148726C>G	ENST00000379607.5	-	6	541		c.e6-1		EIF1AX_ENST00000379593.1_Splice_Site	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						TTGATTTTAGCTAAGGACACA	0.313																																						ENST00000379607.5																			0				endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.e6-1		eukaryotic translation initiation factor 1A, X-linked							143	117	126					X																	20148726		2203	4297	6500	SO:0001630	splice_region_variant	1964					cytosol	translation initiation factor activity	g.chrX:20148726C>G	L18960	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674			3250	protein-coding gene	gene with protein product		300186	"eukaryotic translation initiation factor 1A, X chromosome"	EIF4C, EIF1A		8106356, 9381176	Standard	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.338-1G>C	X.37:g.20148726C>G						EIF1AX_ENST00000379593.1_Splice_Site		NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN			6	541	-								B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Splice_Site	SNP	ENST00000379607.5	37		CCDS14196.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742404	0.69418	.	.	ENSG00000173674	ENST00000379607;ENST00000379593	.	.	.	4.64	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1934	0.73063	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EIF1AX	20058647	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.770000	0.74990	2.025000	0.59659	0.594000	0.82650	.		0.313	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1		Intron	7	32	0	0	0	1	0	7	32					G	20148726	C	G	20148726	5	3	350	1	0	0	0	0	0	0	1	0	4992	811	28	4	105	4	EIF1AX	23	20148726	Splice_Site	SNP	C	TCGA-EM-A4FV-01A-11D-A257-08		20148726	135121834	30	7451											
FMR1	2332	broad.mit.edu	37	chrX	147026458	147026458	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agacgaactcagtgattggtCattagctccaacagaggaag	11	8	2	3			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chrX:147026458C>T	ENST00000370475.4	+	15	1669	c.1541C>T	c.(1540-1542)tCa>tTa	p.S514L	FMR1_ENST00000370471.3_Intron|FMR1_ENST00000218200.8_Missense_Mutation_p.S493L|FMR1_ENST00000440235.2_Missense_Mutation_p.S161L|FMR1_ENST00000439526.2_Missense_Mutation_p.S491L|FMR1_ENST00000370470.1_Intron|FMR1_ENST00000370477.1_Missense_Mutation_p.S481L|FMR1-IT1_ENST00000441414.1_RNA	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	514	Interaction with RANBP9.				central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AGTGATTGGTCATTAGCTCCA	0.493									Fragile X syndrome																													ENST00000218200.8																			0				NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(1477-1479)tCa>tTa		fragile X mental retardation 1							63	56	58					X																	147026458		2203	4300	6503	SO:0001583	missense	2332	Fragile X syndrome	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding	g.chrX:147026458C>T	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"premature ovarian failure 1"	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.1541C>T	X.37:g.147026458C>T	ENSP00000359506:p.Ser514Leu					FMR1_ENST00000370471.3_Intron|FMR1_ENST00000370475.4_Missense_Mutation_p.S514L|FMR1_ENST00000370470.1_Intron|FMR1_ENST00000440235.2_Missense_Mutation_p.S161L|FMR1_ENST00000439526.2_Missense_Mutation_p.S491L|FMR1_ENST00000370477.1_Missense_Mutation_p.S481L	p.S493L	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN			14	1707	+	Acute lymphoblastic leukemia(192;6.56e-05)		514			Interaction with RANBP9.		A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	ENST00000370475.4	37	c.1478C>T	CCDS14682.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332865	0.81801	.	.	ENSG00000102081	ENST00000218200;ENST00000370477;ENST00000370475;ENST00000439526;ENST00000440235	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.58538	0.2129	L	0.57536	1.79	0.80722	D	1	D;D;D;D	0.89917	0.989;1.0;0.999;0.996	D;D;D;D	0.91635	0.985;0.999;0.997;0.99	T	0.55717	-0.8097	10	0.48119	T	0.1	-18.9429	18.1587	0.89702	0.0:1.0:0.0:0.0	.	161;514;409;491	F8W871;Q06787;Q59GC1;G3V0J0	.;FMR1_HUMAN;.;.	L	493;481;514;491;161	ENSP00000218200:S493L;ENSP00000359508:S481L;ENSP00000359506:S514L;ENSP00000395923:S491L;ENSP00000413764:S161L	ENSP00000218200:S493L	S	+	2	0	FMR1	146834150	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.218000	0.77991	2.512000	0.84698	0.594000	0.82650	TCA		0.493	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024		8	21	0	0	0	1	0	8	21					T	147026458	C	T	147026458	3	4	350	1	0	0	0	0	1	0	0	0	5960	838	29	2	1599	2	FMR1	23	147026458	Missense_Mutation	SNP	C	TCGA-EM-A4FV-01A-11D-A257-08	126877732	147026458	8244102	31	7452											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290	byFrequency	TCGA-EM-A4G1-01A-11D-A257-08	TCGA-EM-A4G1-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e39124e5-14b3-4367-8a88-186295c2e0d1	6a761d3f-ebdd-484e-b1c5-b57e4f64bd90	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		neuroblastoma RAS viral (v-ras) oncogene homolog							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		36	57	0	0	0	1	0	36	57					C	115256529	T	C	115256529	3	2	351	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-EM-A4G1-01A-11D-A257-08		115256529	133994092	1	7453											
ZC3H15	55854	broad.mit.edu	37	chr2	187351145	187351145	+	Frame_Shift_Del	DEL	C	C	-													caggctcaggccgggggcagCaaaaaggcggagcaaaaaaa							TCGA-EM-A4G1-01A-11D-A257-08	TCGA-EM-A4G1-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e39124e5-14b3-4367-8a88-186295c2e0d1	6a761d3f-ebdd-484e-b1c5-b57e4f64bd90	g.chr2:187351145delC	ENST00000337859.6	+	1	263	c.36delC	c.(34-36)agcfs	p.S12fs	ZC3H15_ENST00000544130.1_5'UTR	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	12					cytokine-mediated signaling pathway (GO:0019221)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			CCGGGGGCAGCAAAAAGGCGG	0.612																																						ENST00000337859.6																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15						c.(34-36)agfs		zinc finger CCCH-type containing 15							46	62	57					2																	187351145		1894	4096	5990	SO:0001589	frameshift_variant	55854					cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding	g.chr2:187351145delC		CCDS42791.1	2q32.1	2012-07-05			ENSG00000065548	ENSG00000065548		"Zinc fingers, CCCH-type domain containing"	29528	protein-coding gene	gene with protein product	"likely ortholog of mouse immediate early response, erythropoietin 4"					10880228	Standard	NM_018471		Approved	LEREPO4	uc002upo.3	Q8WU90	OTTHUMG00000154251	ENST00000337859.6:c.36delC	2.37:g.187351145delC	ENSP00000338788:p.Ser12fs					ZC3H15_ENST00000544130.1_5'UTR	p.S12fs	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)		1	263	+			12					B4DMW2|D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	Frame_Shift_Del	DEL	ENST00000337859.6	37	c.36delC	CCDS42791.1																																																																																				0.612	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334547.2	NM_018471		2	4						2	4	---	---	---	---	-	187351145	C	-	187351145	7	5	351	1	0	1	0	1	0	0	0	0	17564	709	25	0	38	0	ZC3H15	2	187351145	Frame_Shift_Del	DEL	C	TCGA-EM-A4G1-01A-11D-A257-08		187351145	55848228	2	7454											
RREB1	6239	broad.mit.edu	37	chr6	7231938	7231938	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctgcagacagcggaggaCaacactcaggatgaggtggc	14	9	2	2			TCGA-EM-A4G1-01A-11D-A257-08	TCGA-EM-A4G1-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e39124e5-14b3-4367-8a88-186295c2e0d1	6a761d3f-ebdd-484e-b1c5-b57e4f64bd90	g.chr6:7231938C>T	ENST00000349384.6	+	10	3920	c.3606C>T	c.(3604-3606)gaC>gaT	p.D1202D	RREB1_ENST00000379933.3_Silent_p.D1202D|RREB1_ENST00000334984.6_Silent_p.D1202D|RREB1_ENST00000379938.2_Silent_p.D1202D	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1202					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CAGCGGAGGACAACACTCAGG	0.617																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(3604-3606)gaC>gaT		ras responsive element binding protein 1							40	40	40					6																	7231938		2203	4300	6503	SO:0001819	synonymous_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7231938C>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.3606C>T	6.37:g.7231938C>T						RREB1_ENST00000349384.6_Silent_p.D1202D|RREB1_ENST00000379933.3_Silent_p.D1202D|RREB1_ENST00000334984.6_Silent_p.D1202D	p.D1202D	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	4143	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	1202					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	c.3606C>T	CCDS34336.1																																																																																				0.617	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			3	30	0	0	0	1	0	3	30					T	7231938	C	T	7231938	2	4	351	1	0	0	0	0	0	0	0	1	13679	477	17	2		2	RREB1	6	7231938	Silent	SNP	C	TCGA-EM-A4G1-01A-11D-A257-08		7231938	163883129	3	7455											
EFCAB1	79645	broad.mit.edu	37	chr8	49643125	49643125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttttcttccaaagatcctCgaagaaacagtgataatcca	5	9	1	3			TCGA-EM-A4G1-01A-11D-A257-08	TCGA-EM-A4G1-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e39124e5-14b3-4367-8a88-186295c2e0d1	6a761d3f-ebdd-484e-b1c5-b57e4f64bd90	g.chr8:49643125C>T	ENST00000262103.3	-	3	373	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	EFCAB1_ENST00000433756.1_Missense_Mutation_p.R46Q|EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000523092.1_Missense_Mutation_p.R46Q	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	98	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				CAAAGATCCTCGAAGAAACAG	0.343																																						ENST00000433756.1																			0				endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14						c.(136-138)cGa>cAa		EF-hand calcium binding domain 1							115	103	107					8																	49643125		2203	4300	6503	SO:0001583	missense	79645						calcium ion binding	g.chr8:49643125C>T		CCDS6145.1, CCDS47853.1	8q11.21	2013-01-10			ENSG00000034239	ENSG00000034239		"EF-hand domain containing"	25678	protein-coding gene	gene with protein product						12477932	Standard	NM_024593		Approved	FLJ11767	uc003xqo.2	Q9HAE3	OTTHUMG00000164203	ENST00000262103.3:c.293G>A	8.37:g.49643125C>T	ENSP00000262103:p.Arg98Gln					EFCAB1_ENST00000523092.1_Missense_Mutation_p.R46Q|EFCAB1_ENST00000262103.3_Missense_Mutation_p.R98Q|EFCAB1_ENST00000521002.1_Intron	p.R46Q	NM_001142857.1	NP_001136329.1	Q9HAE3	EFCB1_HUMAN			2	296	-		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)	98					B4DSB4|E7EVN7	Missense_Mutation	SNP	ENST00000262103.3	37	c.137G>A	CCDS6145.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.033726	0.93575	.	.	ENSG00000034239	ENST00000433756;ENST00000262103;ENST00000450553;ENST00000523092	T;T;T	0.68331	-0.29;-0.32;-0.29	4.44	4.44	0.53790	EF-hand-like domain (1);	0.060216	0.64402	D	0.000002	T	0.79240	0.4412	M	0.83953	2.67	0.80722	D	1	D;D	0.71674	0.998;0.965	P;P	0.56823	0.807;0.56	T	0.83271	-0.0043	10	0.72032	D	0.01	.	14.9317	0.70919	0.0:1.0:0.0:0.0	.	46;98	Q9HAE3-2;Q9HAE3	.;EFCB1_HUMAN	Q	46;98;98;46	ENSP00000400873:R46Q;ENSP00000262103:R98Q;ENSP00000430765:R46Q	ENSP00000262103:R98Q	R	-	2	0	EFCAB1	49805678	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.789000	0.75110	2.441000	0.82636	0.563000	0.77884	CGA		0.343	EFCAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377778.1	NM_024593		4	17	0	0	0	1	0	4	17					T	49643125	C	T	49643125	3	4	351	1	0	0	0	0	1	0	0	0	4933	884	31	1	358	1	EFCAB1	8	49643125	Missense_Mutation	SNP	C	TCGA-EM-A4G1-01A-11D-A257-08		49643125	96720897	4	7456											
ZSCAN20	7579	broad.mit.edu	37	chr1	33944900	33944900	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggttagacaatggctatggCcctggaattgcaagcccagg	14	9	0	1			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr1:33944900C>T	ENST00000361328.3	+	2	164	c.11C>T	c.(10-12)gCc>gTc	p.A4V	ZSCAN20_ENST00000480917.1_3'UTR|ZSCAN20_ENST00000373413.2_Missense_Mutation_p.A4V	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	4					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				ATGGCTATGGCCCTGGAATTG	0.512																																						ENST00000361328.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31						c.(10-12)gCc>gTc		zinc finger and SCAN domain containing 20							70	67	68					1																	33944900		1951	4166	6117	SO:0001583	missense	7579				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:33944900C>T	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"-", "Zinc fingers, C2H2-type"	13093	protein-coding gene	gene with protein product		611315	"zinc finger protein 31 (KOX 29)", "zinc finger protein 31"	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.11C>T	1.37:g.33944900C>T	ENSP00000355053:p.Ala4Val					ZSCAN20_ENST00000373413.2_Missense_Mutation_p.A4V|ZSCAN20_ENST00000480917.1_3'UTR	p.A4V	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN			2	164	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	4					A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	37	c.11C>T	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172853	0.38413	.	.	ENSG00000121903	ENST00000373411;ENST00000326544;ENST00000373413;ENST00000361328;ENST00000401072	T;T	0.06933	4.36;3.24	5.36	4.41	0.53225	.	0.132612	0.34507	N	0.003920	T	0.15132	0.0365	M	0.88979	2.995	0.09310	N	1	B;B;B	0.19073	0.033;0.011;0.02	B;B;B	0.19946	0.027;0.011;0.008	T	0.13335	-1.0513	10	0.41790	T	0.15	-7.7603	8.5078	0.33197	0.0:0.8895:0.0:0.1105	.	4;4;4	P17040-3;P17040-4;P17040	.;.;ZSC20_HUMAN	V	4	ENSP00000362512:A4V;ENSP00000355053:A4V	ENSP00000324450:A4V	A	+	2	0	ZSCAN20	33717487	0.002000	0.14202	0.054000	0.19295	0.006000	0.05464	0.470000	0.22084	1.407000	0.46875	0.655000	0.94253	GCC		0.512	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		38	56	0	0	0	0.00623	0	38	56					T	33944900	C	T	33944900	3	4	352	1	0	0	0	0	1	0	0	0	18229	739	26	2	13	2	ZSCAN20	1	33944900	Missense_Mutation	SNP	C	TCGA-ET-A25G-01A-11D-A16O-08		33944900	215305721	1	7457											
CLCA1	1179	broad.mit.edu	37	chr1	86959123	86959123	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggatgaatggcacagtgatCgtggacagcaccgtgggaaa	15	7	0	2			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr1:86959123C>T	ENST00000234701.3	+	11	1872	c.1521C>T	c.(1519-1521)atC>atT	p.I507I	CLCA1_ENST00000394711.1_Silent_p.I507I			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	507					calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GCACAGTGATCGTGGACAGCA	0.493																																						ENST00000234701.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1519-1521)atC>atT		chloride channel accessory 1							169	135	147					1																	86959123		2203	4300	6503	SO:0001819	synonymous_variant	1179				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86959123C>T		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"chloride channel, calcium activated, family member 1", "chloride channel regulator 1"			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.1521C>T	1.37:g.86959123C>T						CLCA1_ENST00000394711.1_Silent_p.I507I	p.I507I			A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	11	1872	+		Lung NSC(277;0.239)	507					B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Silent	SNP	ENST00000234701.3	37	c.1521C>T	CCDS709.1																																																																																				0.493	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		8	86	0	0	0	0.00308	0	8	86					T	86959123	C	T	86959123	2	4	352	1	0	0	0	0	0	0	0	1	3457	874	31	1		1	CLCA1	1	86959123	Silent	SNP	C	TCGA-ET-A25G-01A-11D-A16O-08	53014223	86959123	162291498	2	7458											
SLC19A2	10560	broad.mit.edu	37	chr1	169437896	169437896	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acatacgttgctatcgtgatGagtaacatgtagatgattct	9	6	1	4			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr1:169437896G>A	ENST00000236137.5	-	4	1445	c.1209C>T	c.(1207-1209)ctC>ctT	p.L403L	SLC19A2_ENST00000367804.4_Silent_p.L202L	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	403					folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|thiamine transport (GO:0015888)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid transporter activity (GO:0008517)|thiamine transmembrane transporter activity (GO:0015234)|thiamine uptake transmembrane transporter activity (GO:0015403)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)				Thiamine(DB00152)	CTATCGTGATGAGTAACATGT	0.368																																						ENST00000236137.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11						c.(1207-1209)ctC>ctT		solute carrier family 19 (thiamine transporter), member 2							141	122	129					1																	169437896		2203	4300	6503	SO:0001819	synonymous_variant	10560				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr1:169437896G>A	AF135488	CCDS1280.1	1q23.3	2013-05-22			ENSG00000117479	ENSG00000117479		"Solute carriers"	10938	protein-coding gene	gene with protein product		603941		TRMA		9399900, 10391221	Standard	NM_006996		Approved	THTR1	uc001gge.4	O60779	OTTHUMG00000035452	ENST00000236137.5:c.1209C>T	1.37:g.169437896G>A						SLC19A2_ENST00000367802.3_Silent_p.L365L|SLC19A2_ENST00000367804.3_Silent_p.L202L	p.L403L	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN			4	1445	-	all_hematologic(923;0.208)		403					B2R9H0|B4E1X4|Q8WV87|Q9UBL7|Q9UKJ2|Q9UN31|Q9UN43	Silent	SNP	ENST00000236137.5	37	c.1209C>T	CCDS1280.1																																																																																				0.368	SLC19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086106.1	NM_006996		4	84	0	0	0	0.000248	0	4	84					A	169437896	G	A	169437896	2	1	352	1	0	0	0	0	0	0	0	1	14429	1277	45	2		2	SLC19A2	1	169437896	Silent	SNP	G	TCGA-ET-A25G-01A-11D-A16O-08	82478773	169437896	79812725	3	7459											
EOMES	8320	broad.mit.edu	37	chr3	27763406	27763408	+	In_Frame_Del	DEL	GCG	GCG	-													agcgcgcagtggccgcagccGcggcggcggcggcggcggcg							TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr3:27763406_27763408delGCG	ENST00000295743.4	-	1	581_583	c.378_380delCGC	c.(376-381)gccgcg>gcg	p.126_127AA>A	EOMES_ENST00000461503.1_Intron|EOMES_ENST00000449599.1_In_Frame_Del_p.126_127AA>A|EOMES_ENST00000537516.1_Intron			O95936	EOMES_HUMAN	eomesodermin	126	Ala-rich.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						ggccgcagccgcggcggcggcgg	0.778																																						ENST00000295743.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						c.(376-381)gcg>gc		eomesodermin				85,33,494		40,0,5,13,7,241						-3.4	0.0		dbSNP_126	1	353,77,1382		157,0,39,28,21,661	no	codingComplex	EOMES	NM_005442.2		197,0,44,41,28,902	A1A1,A1A2,A1R,A2A2,A2R,RR		23.7307,19.281,22.6073				438,110,1876				SO:0001651	inframe_deletion	8320				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:27763406_27763408delGCG	BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"T-boxes"	3372	protein-coding gene	gene with protein product	"T-box brain2"	604615	"eomesodermin (Xenopus laevis) homolog"			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.378_380delCGC	3.37:g.27763415_27763417delGCG	ENSP00000295743:p.Ala130del					EOMES_ENST00000537516.1_Intron|EOMES_ENST00000461503.1_Intron|EOMES_ENST00000449599.1_In_Frame_Del_p.AA128del	p.AA128del			O95936	EOMES_HUMAN			1	581_583	-			128			Ala-rich.		B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	In_Frame_Del	DEL	ENST00000295743.4	37	c.378_380delCGC	CCDS2646.1																																																																																				0.778	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442		2	4						2	4	---	---	---	---	-	27763408	GCG	-	27763406	7	5	352	1	0	1	0	1	0	0	0	0	5147	1087	38	0	1704	0	EOMES	3	27763406	In_Frame_Del	DEL	GCG	TCGA-ET-A25G-01A-11D-A16O-08		27763406	170259024	4	7460											
HIGD1A	25994	broad.mit.edu	37	chr3	42845665	42845665	+	Intron	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccccgctcggcaactcactCcacaagcttctgctccatct	5	19	3	0			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr3:42845665C>T	ENST00000321331.7	-	1	96				HIGD1A_ENST00000430190.1_Intron|RP11-70C1.3_ENST00000449063.1_RNA|HIGD1A_ENST00000470543.1_Intron|HIGD1A_ENST00000418900.2_Intron|HIGD1A_ENST00000452906.2_Splice_Site_p.E7K	NM_001099669.1|NM_014056.3	NP_001093139.1|NP_054775.2	Q9Y241	HIG1A_HUMAN	HIG1 hypoxia inducible domain family, member 1A						cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|protein complex (GO:0043234)|respiratory chain (GO:0070469)				lung(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.217)		GCAACTCACTCCACAAGCTTC	0.672																																						ENST00000452906.2																			0				lung(1)	1						c.e1+1		HIG1 hypoxia inducible domain family, member 1A							156	178	171					3																	42845665		2167	4266	6433	SO:0001627	intron_variant	25994				response to stress	integral to membrane|protein complex	protein binding	g.chr3:42845665C>T	BC009583	CCDS43073.1, CCDS46806.1	3p22.1	2014-02-12	2009-03-17		ENSG00000181061	ENSG00000181061			29527	protein-coding gene	gene with protein product	"hypoxia inducible gene 1"		"HIG1 domain family, member 1A"			11042152, 11230166	Standard	NM_001099668		Approved	HIG1, DKFZP564K247	uc010hid.3	Q9Y241	OTTHUMG00000156277	ENST00000321331.7:c.21+262G>A	3.37:g.42845665C>T						HIGD1A_ENST00000418900.2_Intron|HIGD1A_ENST00000430190.1_Intron|HIGD1A_ENST00000470543.1_Intron|HIGD1A_ENST00000321331.7_Intron	p.E7_splice	NM_001099668.1	NP_001093138.1	Q9Y241	HIG1A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.217)	1	260	-			0			HIG1.		Q9UFZ2	Splice_Site	SNP	ENST00000321331.7	37	c.20_splice	CCDS43073.1	.	.	.	.	.	.	.	.	.	.	C	7.629	0.678472	0.14841	.	.	ENSG00000181061	ENST00000452906	T	0.37058	1.22	4.16	1.3	0.21679	.	.	.	.	.	T	0.13798	0.0334	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.32745	-0.9895	8	0.06236	T	0.91	.	4.7409	0.13012	0.0:0.6124:0.1794:0.2082	.	7	Q9Y241-2	.	K	7	ENSP00000398064:E7K	ENSP00000398064:E7K	E	-	1	0	HIGD1A	42820669	0.000000	0.05858	0.000000	0.03702	0.103000	0.19146	0.070000	0.14573	0.123000	0.18342	0.563000	0.77884	GAG		0.672	HIGD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343686.1	NM_014056		46	109	0	0	0	0.00361	0	46	109					T	42845665	C	T	42845665	1	4	352	0	1	0	0	0	0	0	0	0	7106	869	30	2		2	HIGD1A	3	42845665	Intron	SNP	C	TCGA-ET-A25G-01A-11D-A16O-08	15082259	42845665	155176765	5	7461											
ARHGAP18	93663	broad.mit.edu	37	chr6	129920497	129920497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggtttacaataaacttgGgaatctatagagaaaaggaa	9	4	1	1			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr6:129920497G>A	ENST00000368149.2	-	12	1665	c.1577C>T	c.(1576-1578)cCc>cTc	p.P526L	ARHGAP18_ENST00000463225.1_5'Flank	NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		AATAAACTTGGGAATCTATAG	0.294																																						ENST00000368149.2																			0				NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18						c.(1576-1578)cCc>cTc		Rho GTPase activating protein 18							65	63	64					6																	129920497		2201	4298	6499	SO:0001583	missense	93663				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr6:129920497G>A	AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"Rho GTPase activating proteins"	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.1577C>T	6.37:g.129920497G>A	ENSP00000357131:p.Pro526Leu						p.P526L	NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)	12	1665	-			526						Missense_Mutation	SNP	ENST00000368149.2	37	c.1577C>T	CCDS34535.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669376	0.88348	.	.	ENSG00000146376	ENST00000368149;ENST00000275189	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.80341	0.4605	M	0.83223	2.63	0.80722	D	1	D;D	0.67145	0.995;0.996	P;D	0.69307	0.894;0.963	T	0.81690	-0.0818	8	.	.	.	.	18.8962	0.92424	0.0:0.0:1.0:0.0	.	526;526	A9UK01;Q8N392	.;RHG18_HUMAN	L	481;526	.	.	P	-	2	0	ARHGAP18	129962190	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.980000	0.93460	2.439000	0.82584	0.650000	0.86243	CCC		0.294	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		12	36	0	0	0	0.001368	0	12	36					A	129920497	G	A	129920497	3	1	352	1	0	0	0	0	1	0	0	0	868	1232	43	2	430	2	ARHGAP18	6	129920497	Missense_Mutation	SNP	G	TCGA-ET-A25G-01A-11D-A16O-08		129920497	41194570	6	7462											
ZMIZ2	83637	broad.mit.edu	37	chr7	44805072	44805072	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtgagccccgcccacgtgctCatgcccagcgtgatggagat	13	14	1	3			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr7:44805072C>G	ENST00000309315.4	+	16	2259	c.2136C>G	c.(2134-2136)ctC>ctG	p.L712L	ZMIZ2_ENST00000413916.1_Silent_p.L654L|ZMIZ2_ENST00000441627.1_Silent_p.L712L|ZMIZ2_ENST00000433667.1_Silent_p.L680L|ZMIZ2_ENST00000265346.7_Silent_p.L686L	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	712					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						CCCACGTGCTCATGCCCAGCG	0.701																																					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.(2134-2136)ctC>ctG		zinc finger, MIZ-type containing 2							21	24	23					7																	44805072		2062	4210	6272	SO:0001819	synonymous_variant	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.chr7:44805072C>G	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.2136C>G	7.37:g.44805072C>G						ZMIZ2_ENST00000433667.1_Silent_p.L680L|ZMIZ2_ENST00000441627.1_Silent_p.L712L|ZMIZ2_ENST00000413916.1_Silent_p.L654L|ZMIZ2_ENST00000265346.7_Silent_p.L686L	p.L712L	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN			16	2259	+			712					A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Silent	SNP	ENST00000309315.4	37	c.2136C>G	CCDS43576.1																																																																																				0.701	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		13	23	0	0	0	0.003163	0	13	23					G	44805072	C	G	44805072	2	3	352	1	0	0	0	0	0	0	0	1	17694	813	29	4		4	ZMIZ2	7	44805072	Silent	SNP	C	TCGA-ET-A25G-01A-11D-A16O-08		44805072	114333591	7	7463											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		34	53	0	0	0	0.003755	0	34	53					T	140453136	A	T	140453136	3	4	352	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A25G-01A-11D-A16O-08	95648064	140453136	18685527	8	7464											
PKHD1L1	93035	broad.mit.edu	37	chr8	110396357	110396357	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctttatctggaactccagGtctgttatatgacatctgaa	7	9	3	2			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr8:110396357G>A	ENST00000378402.5	+	5	579		c.e5+1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGAACTCCAGGTCTGTTATAT	0.279										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.e5+1		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							134	132	132					8																	110396357		1814	4070	5884	SO:0001630	splice_region_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110396357G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.475+1G>A	8.37:g.110396357G>A		HNSCC(38;0.096)						NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		5	579	+								Q567P2|Q9UF27	Splice_Site	SNP	ENST00000378402.5	37		CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.554352	0.86231	.	.	ENSG00000205038	ENST00000378402	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.875	0.88822	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PKHD1L1	110465533	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.368000	0.66133	2.821000	0.97095	0.650000	0.86243	.		0.279	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	Intron	8	171	0	0	0	0.006214	0	8	171					A	110396357	G	A	110396357	5	1	352	1	0	0	0	0	0	0	1	0	11972	1275	44	2	494	2	PKHD1L1	8	110396357	Splice_Site	SNP	G	TCGA-ET-A25G-01A-11D-A16O-08		110396357	35967665	9	7465											
MPDZ	8777	broad.mit.edu	37	chr9	13217196	13217196	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacccaattttttatctccaAtgtagccagcaatggtaatt	5	9	1	0			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr9:13217196A>G	ENST00000319217.7	-	9	1431	c.1184T>C	c.(1183-1185)aTt>aCt	p.I395T	MPDZ_ENST00000546205.1_Missense_Mutation_p.I395T|MPDZ_ENST00000541718.1_Missense_Mutation_p.I395T|MPDZ_ENST00000381022.2_Missense_Mutation_p.I395T|MPDZ_ENST00000536827.1_Missense_Mutation_p.I395T|MPDZ_ENST00000381015.4_Missense_Mutation_p.I395T|MPDZ_ENST00000447879.1_Missense_Mutation_p.I395T	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	395	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TTTATCTCCAATGTAGCCAGC	0.303																																						ENST00000319217.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(1183-1185)aTt>aCt		multiple PDZ domain protein							63	59	60					9																	13217196		1800	4053	5853	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13217196A>G	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.1184T>C	9.37:g.13217196A>G	ENSP00000320006:p.Ile395Thr					MPDZ_ENST00000381015.4_Missense_Mutation_p.I395T|MPDZ_ENST00000546205.1_Missense_Mutation_p.I395T|MPDZ_ENST00000381022.2_Missense_Mutation_p.I395T|MPDZ_ENST00000536827.1_Missense_Mutation_p.I395T|MPDZ_ENST00000541718.1_Missense_Mutation_p.I395T|MPDZ_ENST00000447879.1_Missense_Mutation_p.I395T	p.I395T	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	9	1431	-			395			PDZ 3.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.1184T>C		.	.	.	.	.	.	.	.	.	.	A	15.02	2.709749	0.48517	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73;1.73	6.17	6.17	0.99709	.	0.000000	0.45361	D	0.000375	T	0.24005	0.0581	N	0.12182	0.205	0.80722	D	1	P;P;D	0.53745	0.916;0.897;0.962	P;P;P	0.49799	0.622;0.488;0.488	T	0.03969	-1.0988	10	0.42905	T	0.14	.	16.4957	0.84242	1.0:0.0:0.0:0.0	.	395;395;395	B7ZMI4;O75970-3;O75970-2	.;.;.	T	395	ENSP00000320006:I395T;ENSP00000439807:I395T;ENSP00000370410:I395T;ENSP00000444151:I395T;ENSP00000415208:I395T;ENSP00000370403:I395T;ENSP00000446358:I395T	ENSP00000320006:I395T	I	-	2	0	MPDZ	13207196	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.554000	0.90689	2.371000	0.80710	0.533000	0.62120	ATT		0.303	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		15	17	0	0	0	0.004007	0	15	17					G	13217196	A	G	13217196	3	3	352	1	0	0	0	0	1	0	0	0	9722	101	4	3	5093	3	MPDZ	9	13217196	Missense_Mutation	SNP	A	TCGA-ET-A25G-01A-11D-A16O-08		13217196	127996235	10	7466											
VIM	7431	broad.mit.edu	37	chr10	17277352	17277352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccttgacattgagattgCcacctacaggaagctgctgg	12	11	0	2			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr10:17277352C>T	ENST00000224237.5	+	6	1338	c.1193C>T	c.(1192-1194)gCc>gTc	p.A398V	RP11-124N14.3_ENST00000456355.1_RNA|VIM_ENST00000544301.1_Missense_Mutation_p.A398V			P08670	VIME_HUMAN	vimentin	398	Coil 2.|Rod.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATTGAGATTGCCACCTACAGG	0.502																																						ENST00000544301.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1192-1194)gCc>gTc		vimentin							111	103	106					10																	17277352		2203	4300	6503	SO:0001583	missense	7431				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	g.chr10:17277352C>T	M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"Intermediate filaments type III"	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.1193C>T	10.37:g.17277352C>T	ENSP00000224237:p.Ala398Val					VIM_ENST00000224237.5_Missense_Mutation_p.A398V	p.A398V	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN			7	1606	+			398			Coil 2.|Rod.		B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Missense_Mutation	SNP	ENST00000224237.5	37	c.1193C>T	CCDS7120.1	.	.	.	.	.	.	.	.	.	.	C	36	5.743088	0.96873	.	.	ENSG00000026025	ENST00000544301;ENST00000224237;ENST00000545533	D;D	0.91068	-2.78;-2.78	5.87	5.87	0.94306	Filament (1);Intermediate filament protein, conserved site (1);	0.297463	0.23604	N	0.046412	D	0.97244	0.9099	H	0.96175	3.78	0.80722	D	1	D;D;D;D	0.89917	0.988;1.0;1.0;0.988	D;D;D;D	0.97110	0.936;0.997;1.0;0.956	D	0.97812	1.0251	10	0.87932	D	0	.	20.2707	0.98476	0.0:1.0:0.0:0.0	.	398;385;398;398	Q53HU8;F5H288;B0YJC4;P08670	.;.;.;VIME_HUMAN	V	398;398;385	ENSP00000446007:A398V;ENSP00000224237:A398V	ENSP00000224237:A398V	A	+	2	0	VIM	17317358	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.811000	0.86092	2.784000	0.95788	0.638000	0.83543	GCC		0.502	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1	NM_003380		4	124	0	0	0	0.000602	0	4	124					T	17277352	C	T	17277352	3	4	352	1	0	0	0	0	1	0	0	0	17163	739	26	2	1215	2	VIM	10	17277352	Missense_Mutation	SNP	C	TCGA-ET-A25G-01A-11D-A16O-08		17277352	118257395	11	7467											
GPR120	338557	broad.mit.edu	37	chr10	95347003	95347003	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaggcatcaaggaagaggctCacggtaagcctggcctactc	12	11	2	1			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr10:95347003C>T	ENST00000371483.4	+	4	827	c.771C>T	c.(769-771)ctC>ctT	p.L257L	FFAR4_ENST00000371481.4_Silent_p.L241L|FFAR4_ENST00000604414.1_Intron	NM_181745.3	NP_859529.2	Q5NUL3	FFAR4_HUMAN	free fatty acid receptor 4	257					hormone secretion (GO:0046879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of inflammatory response (GO:0050728)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of glucose transport (GO:0010827)	endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fatty acid binding (GO:0005504)|taste receptor activity (GO:0008527)										GGAAGAGGCTCACGGTAAGCC	0.567																																						ENST00000371483.4																			0											c.(769-771)ctC>ctT		free fatty acid receptor 4							74	71	72					10																	95347003		2203	4300	6503	SO:0001819	synonymous_variant	338557							g.chr10:95347003C>T		CCDS31248.1, CCDS55720.1	10q23.33	2012-11-16	2012-11-16	2012-11-16	ENSG00000186188	ENSG00000186188		"GPCR / Class A : Fatty acid receptors"	19061	protein-coding gene	gene with protein product		609044	"G protein-coupled receptor 129", "G protein-coupled receptor 120", "omega-3 fatty acid receptor 1"	GPR129, GPR120, O3FAR1		20471368, 19723586, 15619630, 20813258	Standard	NM_181745		Approved	PGR4	uc010qnt.2	Q5NUL3	OTTHUMG00000034409	ENST00000371483.4:c.771C>T	10.37:g.95347003C>T						FFAR4_ENST00000371481.4_Silent_p.L241L|FFAR4_ENST00000604414.1_Intron	p.L257L	NM_181745.3	NP_859529.2					4	827	+								Q495H1|Q5VY25|Q5VY26|Q7Z605|Q86SM7	Silent	SNP	ENST00000371483.4	37	c.771C>T	CCDS31248.1																																																																																				0.567	FFAR4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083179.1	NM_181745		4	68	0	0	0	0.000248	0	4	68					T	95347003	C	T	95347003	2	4	352	1	0	0	0	0	0	0	0	1	6636	813	29	2		2	GPR120	10	95347003	Silent	SNP	C	TCGA-ET-A25G-01A-11D-A16O-08	78069651	95347003	40187744	12	7468											
C11orf63	79864	broad.mit.edu	37	chr11	122805462	122805462	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccacaatctcaaagaaaCctccaatacatttgctccac	3	14	1	1			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr11:122805462C>T	ENST00000531316.1	+	4	1405	c.1313C>T	c.(1312-1314)aCc>aTc	p.T438I	C11orf63_ENST00000227349.2_Missense_Mutation_p.T438I			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	438					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		CTCAAAGAAACCTCCAATACA	0.398																																						ENST00000227349.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1312-1314)aCc>aTc		chromosome 11 open reading frame 63							82	82	82					11																	122805462		2202	4299	6501	SO:0001583	missense	79864							g.chr11:122805462C>T	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.1313C>T	11.37:g.122805462C>T	ENSP00000431669:p.Thr438Ile					C11orf63_ENST00000531316.1_Missense_Mutation_p.T438I	p.T438I	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	5	1610	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	438					A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	ENST00000531316.1	37	c.1313C>T	CCDS8438.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.550936	0.27739	.	.	ENSG00000109944	ENST00000227349;ENST00000531316	T;T	0.24723	1.84;1.84	5.81	1.53	0.23141	.	0.816764	0.11065	N	0.603586	T	0.26629	0.0651	M	0.70595	2.14	0.09310	N	1	B	0.29432	0.244	B	0.27715	0.082	T	0.28744	-1.0034	10	0.87932	D	0	-2.0069	6.5769	0.22571	0.4654:0.4516:0.0:0.083	.	438	Q6NUN7	CK063_HUMAN	I	438	ENSP00000227349:T438I;ENSP00000431669:T438I	ENSP00000227349:T438I	T	+	2	0	C11orf63	122310672	0.000000	0.05858	0.049000	0.19019	0.291000	0.27294	-0.169000	0.09911	0.745000	0.32763	0.650000	0.86243	ACC		0.398	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		30	40	0	0	0	0.003271	0	30	40					T	122805462	C	T	122805462	3	4	352	1	0	0	0	0	1	0	0	0	1654	507	18	2	1391	2	C11orf63	11	122805462	Missense_Mutation	SNP	C	TCGA-ET-A25G-01A-11D-A16O-08		122805462	12201054	13	7469											
PABPC3	5042	broad.mit.edu	37	chr13	25670442	25670442	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagttcagcccggcagggCccatcctctccatccggatc	10	16	2	1			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr13:25670442C>T	ENST00000281589.3	+	1	143	c.106C>T	c.(106-108)Ccc>Tcc	p.P36S		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	36	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CCCGGCAGGGCCCATCCTCTC	0.627																																						ENST00000281589.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(106-108)Ccc>Tcc		poly(A) binding protein, cytoplasmic 3							79	77	78					13																	25670442		2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25670442C>T	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.106C>T	13.37:g.25670442C>T	ENSP00000281589:p.Pro36Ser						p.P36S	NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	143	+		Lung SC(185;0.0225)|Breast(139;0.0602)	36			RRM 1.		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.106C>T	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.152239	0.38021	.	.	ENSG00000151846	ENST00000281589	T	0.16897	2.31	0.546	0.546	0.17196	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.38164	U	0.001785	T	0.19765	0.0475	L	0.52011	1.625	0.37799	D	0.927644	P	0.42735	0.788	P	0.49085	0.6	T	0.05971	-1.0853	10	0.46703	T	0.11	.	6.848	0.23998	0.0:0.9999:0.0:1.0E-4	.	36	Q9H361	PABP3_HUMAN	S	36	ENSP00000281589:P36S	ENSP00000281589:P36S	P	+	1	0	PABPC3	24568442	1.000000	0.71417	0.049000	0.19019	0.022000	0.10575	2.562000	0.45914	0.558000	0.29135	0.305000	0.20034	CCC		0.627	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		30	45	0	0	0	0.002445	0	30	45					T	25670442	C	T	25670442	3	4	352	1	0	0	0	0	1	0	0	0	11365	739	26	2	108	2	PABPC3	13	25670442	Missense_Mutation	SNP	C	TCGA-ET-A25G-01A-11D-A16O-08		25670442	89499436	14	7470											
COL6A2	1292	broad.mit.edu	37	chr21	47538972	47538972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggcaacagtggagccccagGaagtcctggtgtgaaaggag	16	8	0	1			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr21:47538972G>A	ENST00000300527.4	+	14	1312	c.1208G>A	c.(1207-1209)gGa>gAa	p.G403E	COL6A2_ENST00000397763.1_Missense_Mutation_p.G403E|COL6A2_ENST00000409416.1_Missense_Mutation_p.G403E|COL6A2_ENST00000357838.4_Missense_Mutation_p.G403E|COL6A2_ENST00000310645.5_Missense_Mutation_p.G403E	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	403	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGAGCCCCAGGAAGTCCTGGT	0.677																																						ENST00000300527.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1207-1209)gGa>gAa		collagen, type VI, alpha 2							46	41	43					21																	47538972		2200	4298	6498	SO:0001583	missense	0				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47538972G>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.1208G>A	21.37:g.47538972G>A	ENSP00000300527:p.Gly403Glu					COL6A2_ENST00000397763.1_Missense_Mutation_p.G403E|COL6A2_ENST00000310645.5_Missense_Mutation_p.G403E|COL6A2_ENST00000409416.1_Missense_Mutation_p.G403E|COL6A2_ENST00000357838.4_Missense_Mutation_p.G403E	p.G403E	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	14	1312	+	Breast(49;0.245)		403			Triple-helical region.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.1208G>A	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.021834	0.35701	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	D;D;D;D;D	0.99353	-5.77;-5.77;-5.77;-5.77;-5.77	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	D	0.99664	0.9875	H	0.98133	4.155	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	0.97258	0.9902	10	0.87932	D	0	-7.8436	16.3441	0.83117	0.0:0.0:1.0:0.0	.	403;403;403	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	E	403	ENSP00000300527:G403E;ENSP00000350497:G403E;ENSP00000312529:G403E;ENSP00000387115:G403E;ENSP00000380870:G403E	ENSP00000300527:G403E	G	+	2	0	COL6A2	46363400	1.000000	0.71417	0.160000	0.22671	0.151000	0.21798	7.186000	0.77722	2.083000	0.62718	0.591000	0.81541	GGA		0.677	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			10	17	0	0	0	0.001855	0	10	17					A	47538972	G	A	47538972	3	1	352	1	0	0	0	0	1	0	0	0	3700	1174	41	2	1258	2	COL6A2	21	47538972	Missense_Mutation	SNP	G	TCGA-ET-A25G-01A-11D-A16O-08		47538972	590923	15	7471											
SCMH1	22955	broad.mit.edu	37	chr1	41582675	41582675	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaagaagacgcattcagCcgaaatcctgcagcaagcat	10	12	1	2			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr1:41582675C>T	ENST00000326197.7	-	6	689	c.390G>A	c.(388-390)cgG>cgA	p.R130R	SCMH1_ENST00000361191.5_Silent_p.R69R|SCMH1_ENST00000372596.1_Silent_p.R69R|SCMH1_ENST00000397174.2_Silent_p.R110R|SCMH1_ENST00000337495.5_Silent_p.R140R|SCMH1_ENST00000397171.2_Silent_p.R69R|SCMH1_ENST00000361705.3_Silent_p.R83R|SCMH1_ENST00000372597.1_Silent_p.R83R|SCMH1_ENST00000402904.2_Silent_p.R130R|SCMH1_ENST00000456518.2_Intron|SCMH1_ENST00000372595.1_Silent_p.R69R					sex comb on midleg homolog 1 (Drosophila)											breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				ACGCATTCAGCCGAAATCCTG	0.478																																						ENST00000402904.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15						c.(388-390)cgG>cgA		sex comb on midleg homolog 1 (Drosophila)							80	69	73					1																	41582675		2203	4300	6503	SO:0001819	synonymous_variant	22955				anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:41582675C>T	AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"Sterile alpha motif (SAM) domain containing"	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.390G>A	1.37:g.41582675C>T						SCMH1_ENST00000326197.7_Silent_p.R130R|SCMH1_ENST00000372595.1_Silent_p.R69R|SCMH1_ENST00000456518.2_Intron|SCMH1_ENST00000397174.2_Silent_p.R110R|SCMH1_ENST00000337495.5_Silent_p.R140R|SCMH1_ENST00000397171.2_Silent_p.R69R|SCMH1_ENST00000372596.1_Silent_p.R69R|SCMH1_ENST00000361191.5_Silent_p.R69R|SCMH1_ENST00000361705.3_Silent_p.R83R|SCMH1_ENST00000372597.1_Silent_p.R83R	p.R130R	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN			7	758	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)	130						Silent	SNP	ENST00000326197.7	37	c.390G>A	CCDS30688.1																																																																																				0.478	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015656.1			3	45	0	0	0	0.004672	0	3	45					T	41582675	C	T	41582675	2	4	353	1	0	0	0	0	0	0	0	1	13908	726	26	2		2	SCMH1	1	41582675	Silent	SNP	C	TCGA-ET-A25I-01A-11D-A16O-08		41582675	207667946	1	7472											
NRAS	4893	broad.mit.edu	37	chr1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catggcactgtactcttcttGtccagctgtatccagtatgt	8	11	2	0	rs121913254		TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		610	Substitution - Missense(609)|Complex(1)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)	skin(372)|haematopoietic_and_lymphoid_tissue(73)|thyroid(55)|NS(29)|large_intestine(28)|soft_tissue(16)|lung(12)|autonomic_ganglia(6)|liver(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|cervix(2)|endometrium(2)|pancreas(2)|meninges(1)|kidney(1)|biliary_tract(1)|stomach(1)|ovary(1)|bone(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)Caa>Aaa		neuroblastoma RAS viral (v-ras) oncogene homolog							180	156	164					1																	115256530		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256530G>T	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.181C>A	1.37:g.115256530G>T	ENSP00000358548:p.Gln61Lys	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61K	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	434	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.181C>A	CCDS877.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255564	0.95336	.	.	ENSG00000213281	ENST00000369535	D	0.83506	-1.73	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.91845	0.7419	H	0.95850	3.73	0.80722	D	1	P	0.51791	0.948	P	0.54759	0.76	D	0.93711	0.7024	10	0.62326	D	0.03	.	18.6626	0.91477	0.0:0.0:1.0:0.0	.	61	P01111	RASN_HUMAN	K	61	ENSP00000358548:Q61K	ENSP00000358548:Q61K	Q	-	1	0	NRAS	115058053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.520000	0.98027	2.624000	0.88883	0.655000	0.94253	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		56	138	1	0	1.13205e-32	0.01441	1.93543e-32	56	138					T	115256530	G	T	115256530	3	4	353	1	0	0	0	0	1	0	0	0	10640	1386	48	4	400	4	NRAS	1	115256530	Missense_Mutation	SNP	G	TCGA-ET-A25I-01A-11D-A16O-08	73673855	115256530	133994091	2	7473											
LAMC1	3915	broad.mit.edu	37	chr1	183072526	183072526	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagccgcccggagagctttgCcatttacaagcgcacacggg	12	14	0	1			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr1:183072526C>G	ENST00000258341.4	+	2	739	c.482C>G	c.(481-483)gCc>gGc	p.A161G		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	161	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	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)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						GAGAGCTTTGCCATTTACAAG	0.512																																						ENST00000258341.4																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(481-483)gCc>gGc		laminin, gamma 1 (formerly LAMB2)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						98	104	102					1																	183072526		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183072526C>G	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"Laminins"	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.482C>G	1.37:g.183072526C>G	ENSP00000258341:p.Ala161Gly						p.A161G	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN			2	739	+			161			Laminin N-terminal.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.482C>G	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128598	0.77549	.	.	ENSG00000135862	ENST00000258341	T	0.76316	-1.01	5.34	5.34	0.76211	Laminin, N-terminal (3);	0.050215	0.85682	D	0.000000	D	0.83013	0.5162	M	0.83012	2.62	0.80722	D	1	P;P	0.44380	0.834;0.506	P;B	0.45610	0.487;0.398	T	0.82384	-0.0484	10	0.28530	T	0.3	.	19.0561	0.93066	0.0:1.0:0.0:0.0	.	161;161	P11047;Q6NVY8	LAMC1_HUMAN;.	G	161	ENSP00000258341:A161G	ENSP00000258341:A161G	A	+	2	0	LAMC1	181339149	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	7.556000	0.82233	2.501000	0.84356	0.655000	0.94253	GCC		0.512	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		61	104	0	0	0	0.01441	0	61	104					G	183072526	C	G	183072526	3	3	353	1	0	0	0	0	1	0	0	0	8614	739	26	4	488	4	LAMC1	1	183072526	Missense_Mutation	SNP	C	TCGA-ET-A25I-01A-11D-A16O-08	67815996	183072526	66178095	3	7474											
TET3	200424	broad.mit.edu	37	chr2	74274199	74274199	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggcttcttgcccccttccTgaggccttgtcacctcctgc	8	18	2	1			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr2:74274199T>C	ENST00000409262.3	+	1	750	c.750T>C	c.(748-750)ccT>ccC	p.P250P		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	250					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCCCCCTTCCTGAGGCCTTGT	0.602																																						ENST00000409262.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(748-750)ccT>ccC		tet methylcytosine dioxygenase 3							54	56	55					2																	74274199		2002	4164	6166	SO:0001819	synonymous_variant	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74274199T>C		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"tet oncogene family member 3"			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.750T>C	2.37:g.74274199T>C							p.P250P	NM_144993.1	NP_659430.1	O43151	TET3_HUMAN			1	750	+			250					A6NEI3|Q86Z24|Q8TBM9	Silent	SNP	ENST00000409262.3	37	c.750T>C	CCDS46339.1																																																																																				0.602	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			3	64	0	0	0	0.004672	0	3	64					C	74274199	T	C	74274199	2	2	353	1	0	0	0	0	0	0	0	1	15768	1567	55	3		3	TET3	2	74274199	Silent	SNP	T	TCGA-ET-A25I-01A-11D-A16O-08		74274199	168925174	4	7475											
PCDHA6	56142	broad.mit.edu	37	chr5	140209539	140209539	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaagcagcgctcgcttcccGtttcgcgtggggctgtacac	13	14	0	0			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr5:140209539G>A	ENST00000529310.1	+	1	1977	c.1863G>A	c.(1861-1863)ccG>ccA	p.P621P	PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	621	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGCTTCCCGTTTCGCGTGG	0.657																																						ENST00000529310.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1861-1863)ccG>ccA									72	76	75					5																	140209539		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140209539G>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	8672	other	complex locus constituent	"KIAA0345-like 8"	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1863G>A	5.37:g.140209539G>A						PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	p.P621P	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1977	+								O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.1863G>A	CCDS47281.1																																																																																				0.657	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		32	55	0	0	0	0.004289	0	32	55					A	140209539	G	A	140209539	2	1	353	1	0	0	0	0	0	0	0	1	11528	1132	40	1		1	PCDHA6	5	140209539	Silent	SNP	G	TCGA-ET-A25I-01A-11D-A16O-08		140209539	40705721	5	7476											
CCDC129	223075	broad.mit.edu	37	chr7	31683024	31683024	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgcccaggtgaagtcaagGtctggtactttgggtcagat	13	9	3	2			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr7:31683024G>T	ENST00000407970.3	+	11	2078	c.2040G>T	c.(2038-2040)agG>agT	p.R680S	CCDC129_ENST00000451887.2_Missense_Mutation_p.R706S|CCDC129_ENST00000409210.1_Missense_Mutation_p.R588S|CCDC129_ENST00000319386.3_Missense_Mutation_p.R532S	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	680										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TGAAGTCAAGGTCTGGTACTT	0.483																																						ENST00000319386.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(1594-1596)agG>agT		coiled-coil domain containing 129							76	73	74					7																	31683024		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31683024G>T	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.2040G>T	7.37:g.31683024G>T	ENSP00000384416:p.Arg680Ser					CCDC129_ENST00000451887.2_Missense_Mutation_p.R706S|CCDC129_ENST00000409210.1_Missense_Mutation_p.R588S|CCDC129_ENST00000407970.3_Missense_Mutation_p.R680S	p.R532S			Q6ZRS4	CC129_HUMAN			11	2589	+			680					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.1596G>T	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	G	10.38	1.334059	0.24253	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.20738	2.05;2.33;2.31;2.06	4.89	-2.54	0.06307	.	1.488580	0.04272	N	0.342264	T	0.15089	0.0364	L	0.44542	1.39	0.09310	N	1	B;B;B;B	0.17268	0.021;0.021;0.021;0.021	B;B;B;B	0.13407	0.009;0.009;0.009;0.009	T	0.26121	-1.0112	10	0.13853	T	0.58	-10.7831	4.6073	0.12383	0.4233:0.3041:0.2726:0.0	.	706;690;680;532	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	S	532;680;706;690;588	ENSP00000313062:R532S;ENSP00000384416:R680S;ENSP00000395835:R706S;ENSP00000387214:R588S	ENSP00000313062:R532S	R	+	3	2	CCDC129	31649549	0.000000	0.05858	0.000000	0.03702	0.503000	0.33858	-0.296000	0.08287	-0.086000	0.12550	0.655000	0.94253	AGG		0.483	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		25	29	1	0	6.32553e-13	0.004656	1.04767e-12	25	29					T	31683024	G	T	31683024	3	4	353	1	0	0	0	0	1	0	0	0	2764	1252	44	4	2078	4	CCDC129	7	31683024	Missense_Mutation	SNP	G	TCGA-ET-A25I-01A-11D-A16O-08		31683024	127455639	6	7477											
URGCP	55665	broad.mit.edu	37	chr7	43917655	43917663	+	In_Frame_Del	DEL	ACACTCCTC	ACACTCCTC	-													atccggtctttcgctttctgAcactcctcacagtcctcgtc							TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr7:43917655_43917663delACACTCCTC	ENST00000453200.1	-	6	1892_1900	c.1399_1407delGAGGAGTGT	c.(1399-1407)gaggagtgtdel	p.EEC467del	URGCP_ENST00000336086.6_In_Frame_Del_p.EEC424del|URGCP_ENST00000223341.7_In_Frame_Del_p.EEC424del|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000443736.1_In_Frame_Del_p.EEC424del|URGCP_ENST00000402306.3_In_Frame_Del_p.EEC458del|URGCP_ENST00000447717.3_In_Frame_Del_p.EEC424del|URGCP_ENST00000497914.1_5'UTR			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	467					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCGCTTTCTGACACTCCTCACAGTCCTCG	0.589																																						ENST00000336086.6																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1270-1278)del		upregulator of cell proliferation																																				SO:0001651	inframe_deletion	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43917655_43917663delACACTCCTC		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"up-regulated gene 4"	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.1399_1407delGAGGAGTGT	7.37:g.43917655_43917663delACACTCCTC	ENSP00000396918:p.Glu467_Cys469del					URGCP_ENST00000447717.3_In_Frame_Del_p.EEC424del|URGCP_ENST00000402306.3_In_Frame_Del_p.EEC458del|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000223341.7_In_Frame_Del_p.EEC424del|URGCP_ENST00000453200.1_In_Frame_Del_p.EEC467del|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000443736.1_In_Frame_Del_p.EEC424del	p.EEC424del			Q8TCY9	URGCP_HUMAN			4	3506_3514	-			467					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	In_Frame_Del	DEL	ENST00000453200.1	37	c.1270_1278delGAGGAGTGT	CCDS47578.1																																																																																				0.589	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		13	220						13	220	---	---	---	---	-	43917663	ACACTCCTC	-	43917655	7	5	353	1	0	1	0	1	0	0	0	0	17023	273	10	0	1392	0	URGCP	7	43917655	In_Frame_Del	DEL	ACACTCCTC	TCGA-ET-A25I-01A-11D-A16O-08	12234631	43917655	115221008	7	7478											
LMTK2	22853	broad.mit.edu	37	chr7	97820080	97820080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagctttttgacaatgccGcacagccgtattcaaacctt	9	11	1	1	rs139179986		TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr7:97820080G>A	ENST00000297293.5	+	10	1332	c.1039G>A	c.(1039-1041)Gca>Aca	p.A347T		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	347	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TGACAATGCCGCACAGCCGTA	0.458																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(1039-1041)Gca>Aca		lemur tyrosine kinase 2		G	THR/ALA	0,4406		0,0,2203	184	194	191		1039	2.6	1.0	7	dbSNP_134	191	1,8599	1.2+/-3.3	0,1,4299	no	missense	LMTK2	NM_014916.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	347/1504	97820080	1,13005	2203	4300	6503	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97820080G>A	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.1039G>A	7.37:g.97820080G>A	ENSP00000297293:p.Ala347Thr						p.A347T	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			10	1332	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		347			Protein kinase.		A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.1039G>A	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.615392	0.66672	0.0	1.16E-4	ENSG00000164715	ENST00000297293	D	0.82984	-1.67	5.42	2.6	0.31112	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.152889	0.64402	N	0.000019	T	0.82061	0.4955	L	0.58101	1.795	0.42251	D	0.991978	D	0.56035	0.974	P	0.51415	0.669	T	0.77480	-0.2572	10	0.34782	T	0.22	.	7.9167	0.29822	0.1393:0.0:0.7306:0.13	.	347	Q8IWU2	LMTK2_HUMAN	T	347	ENSP00000297293:A347T	ENSP00000297293:A347T	A	+	1	0	LMTK2	97658016	1.000000	0.71417	0.991000	0.47740	0.774000	0.43823	2.606000	0.46291	0.346000	0.23899	-0.126000	0.14955	GCA		0.458	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		5	318	0	0	0	0.001168	0	5	318					A	97820080	G	A	97820080	3	1	353	1	0	0	0	0	1	0	0	0	8859	1087	38	1	1077	1	LMTK2	7	97820080	Missense_Mutation	SNP	G	TCGA-ET-A25I-01A-11D-A16O-08	53902425	97820080	61318583	8	7479											
ZFHX4	79776	broad.mit.edu	37	chr8	77768323	77768323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acttggctccgaccacggttCggcagctgatggcacagcaa	12	13	0	1			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr8:77768323C>T	ENST00000521891.2	+	10	9614	c.9166C>T	c.(9166-9168)Cgg>Tgg	p.R3056W	ZFHX4_ENST00000518282.1_Missense_Mutation_p.R3030W|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R3011W|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R3011W	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3011	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GACCACGGTTCGGCAGCTGAT	0.507										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(9166-9168)Cgg>Tgg		zinc finger homeobox 4							104	104	104					8																	77768323		2012	4177	6189	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77768323C>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9166C>T	8.37:g.77768323C>T	ENSP00000430497:p.Arg3056Trp	HNSCC(33;0.089)				ZFHX4_ENST00000455469.2_Missense_Mutation_p.R3011W|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R3030W|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R3011W	p.R3056W	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	9614	+			3011			Pro-rich.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.9166C>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	11.81	1.750699	0.31046	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.57436	0.4;0.46;0.42;0.4	5.33	3.51	0.40186	.	0.000000	0.37483	U	0.002078	T	0.70133	0.3189	M	0.71581	2.175	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.998	T	0.73304	-0.4025	10	0.72032	D	0.01	.	13.8512	0.63499	0.464:0.536:0.0:0.0	.	3011;3011;3056	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	W	3056;3040;3011;3011;3030	ENSP00000430497:R3056W;ENSP00000399605:R3011W;ENSP00000050961:R3011W;ENSP00000430848:R3030W	ENSP00000050961:R3011W	R	+	1	2	ZFHX4	77930878	1.000000	0.71417	0.162000	0.22713	0.613000	0.37349	4.022000	0.57203	0.796000	0.33947	0.655000	0.94253	CGG		0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		6	117	0	0	0	0.001168	0	6	117					T	77768323	C	T	77768323	3	4	353	1	0	0	0	0	1	0	0	0	17632	875	31	1	9200	1	ZFHX4	8	77768323	Missense_Mutation	SNP	C	TCGA-ET-A25I-01A-11D-A16O-08		77768323	68595699	9	7480											
TG	7038	broad.mit.edu	37	chr8	133900513	133900517	+	Frame_Shift_Del	DEL	ATTCA	ATTCA	-													ccggaaacttcagtctctttAttcaaagtctgtatgaggct					rs555902505		TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr8:133900513_133900517delATTCA	ENST00000220616.4	+	10	2501_2505	c.2461_2465delATTCA	c.(2461-2466)attcaafs	p.IQ821fs	TG_ENST00000377869.1_Frame_Shift_Del_p.IQ821fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	821	Thyroglobulin type-1 7. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAGTCTCTTTATTCAAAGTCTGTAT	0.527																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(2461-2466)afs		thyroglobulin																																				SO:0001589	frameshift_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133900513_133900517delATTCA	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.2461_2465delATTCA	8.37:g.133900513_133900517delATTCA	ENSP00000220616:p.Ile821fs					TG_ENST00000377869.1_Frame_Shift_Del_p.IQ821fs	p.IQ821fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	10	2501_2505	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	821			Thyroglobulin type-1 7.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Frame_Shift_Del	DEL	ENST00000220616.4	37	c.2461_2465delATTCA	CCDS34944.1																																																																																				0.527	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		20	41						20	41	---	---	---	---	-	133900517	ATTCA	-	133900513	7	5	353	1	0	1	0	1	0	0	0	0	15810	449	16	0	2499	0	TG	8	133900513	Frame_Shift_Del	DEL	ATTCA	TCGA-ET-A25I-01A-11D-A16O-08	56132190	133900513	12463509	10	7481											
TTF1	7270	broad.mit.edu	37	chr9	135275452	135275452	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaattccttaaaccgttccaAgtcgtcccggtacatccgct	6	14	0	0			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr9:135275452A>G	ENST00000334270.2	-	3	1600	c.1561T>C	c.(1561-1563)Ttg>Ctg	p.L521L		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	521					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		AACCGTTCCAAGTCGTCCCGG	0.473																																						ENST00000334270.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1561-1563)Ttg>Ctg		transcription termination factor, RNA polymerase I							180	166	171					9																	135275452		2203	4300	6503	SO:0001819	synonymous_variant	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135275452A>G	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.1561T>C	9.37:g.135275452A>G							p.L521L	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	3	1600	-		Myeloproliferative disorder(178;0.204)	521					A1L160|Q4VXF3|Q58EY2|Q6P5T5	Silent	SNP	ENST00000334270.2	37	c.1561T>C	CCDS6948.1																																																																																				0.473	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		54	101	0	0	0	0.01441	0	54	101					G	135275452	A	G	135275452	2	3	353	1	0	0	0	0	0	0	0	1	16715	69	3	3		3	TTF1	9	135275452	Silent	SNP	A	TCGA-ET-A25I-01A-11D-A16O-08		135275452	5937979	11	7482											
AGAP2	116986	broad.mit.edu	37	chr12	58131103	58131103	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggcccggggggctgcgcGgaagcagcggtgacagcagt	20	11	0	1			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr12:58131103G>A	ENST00000547588.1	-	1	926	c.927C>T	c.(925-927)tcC>tcT	p.S309S	AGAP2_ENST00000257897.3_Intron	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	309	Interaction with PLCG1. {ECO:0000250}.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						GGGGCTGCGCGGAAGCAGCGG	0.687																																						ENST00000547588.1																			0				breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						c.(925-927)tcC>tcT		ArfGAP with GTPase domain, ankyrin repeat and PH domain 2							41	55	50					12																	58131103		1568	3582	5150	SO:0001819	synonymous_variant	116986				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58131103G>A	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16921	protein-coding gene	gene with protein product		605476	"centaurin, gamma 1"	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.927C>T	12.37:g.58131103G>A						AGAP2_ENST00000257897.3_Intron	p.S309S	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN			1	926	-			309			Interaction with PLCG1 (By similarity).		A8K9F7|O00578|Q548E0|Q8IWU3	Silent	SNP	ENST00000547588.1	37	c.927C>T	CCDS44932.1	.	.	.	.	.	.	.	.	.	.	G	0.055	-1.238281	0.01493	.	.	ENSG00000135439	ENST00000328568	.	.	.	4.83	2.89	0.33648	.	.	.	.	.	T	0.55545	0.1927	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50676	-0.8800	4	.	.	.	.	7.0637	0.25139	0.1004:0.1791:0.7205:0.0	.	.	.	.	C	173	.	.	R	-	1	0	AGAP2	56417370	0.992000	0.36948	0.992000	0.48379	0.023000	0.10783	1.804000	0.38873	1.120000	0.41904	0.555000	0.69702	CGC		0.687	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770		3	58	0	0	0	0.004672	0	3	58					A	58131103	G	A	58131103	2	1	353	1	0	0	0	0	0	0	0	1	368	1103	39	1		1	AGAP2	12	58131103	Silent	SNP	G	TCGA-ET-A25I-01A-11D-A16O-08		58131103	75720792	12	7483											
TBC1D4	9882	broad.mit.edu	37	chr13	75936554	75936554	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgctgctgttcgtgcaggcTgaacttctccatgcagtcat	11	12	2	1			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr13:75936554T>C	ENST00000377636.3	-	2	1034	c.688A>G	c.(688-690)Agc>Ggc	p.S230G	TBC1D4_ENST00000377625.2_Missense_Mutation_p.S230G|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.S230G	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	230					cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TCGTGCAGGCTGAACTTCTCC	0.597																																						ENST00000377636.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(688-690)Agc>Ggc		TBC1 domain family, member 4							108	110	109					13																	75936554		2061	4205	6266	SO:0001583	missense	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75936554T>C	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"Akt substrate of 160 kDa"	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.688A>G	13.37:g.75936554T>C	ENSP00000366863:p.Ser230Gly					TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.S230G|TBC1D4_ENST00000377625.2_Missense_Mutation_p.S230G	p.S230G	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	2	1034	-		Prostate(6;0.014)|Breast(118;0.0982)	230					A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	c.688A>G	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	T	14.18	2.457698	0.43634	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625	T;T;T	0.03330	3.98;3.97;3.97	5.28	5.28	0.74379	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.07818	0.0196	L	0.45581	1.43	0.80722	D	1	B;P;P	0.52692	0.009;0.955;0.925	B;P;B	0.48552	0.03;0.581;0.377	T	0.11275	-1.0594	10	0.54805	T	0.06	-21.1899	15.1927	0.73060	0.0:0.0:0.0:1.0	.	230;230;230	O60343-2;O60343-3;O60343	.;.;TBCD4_HUMAN	G	230	ENSP00000366863:S230G;ENSP00000395986:S230G;ENSP00000366852:S230G	ENSP00000366852:S230G	S	-	1	0	TBC1D4	74834555	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.977000	0.63792	1.994000	0.58287	0.460000	0.39030	AGC		0.597	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		4	160	0	0	0	0.000602	0	4	160					C	75936554	T	C	75936554	3	2	353	1	0	0	0	0	1	0	0	0	15619	1580	55	3	3288	3	TBC1D4	13	75936554	Missense_Mutation	SNP	T	TCGA-ET-A25I-01A-11D-A16O-08		75936554	39233324	13	7484											
C14orf49	161176	broad.mit.edu	37	chr14	95906371	95906371	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcagctggtggctgaaggtGcagtgctcctgcacactctg	14	11	1	1			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr14:95906371G>C	ENST00000334258.5	-	11	1967	c.1953C>G	c.(1951-1953)tgC>tgG	p.C651W	SYNE3_ENST00000557275.1_Missense_Mutation_p.C651W|SYNE3_ENST00000554873.1_Missense_Mutation_p.C408W	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	651					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						GGCTGAAGGTGCAGTGCTCCT	0.682																																						ENST00000334258.5																			0				breast(1)|endometrium(2)|lung(25)	28						c.(1951-1953)tgC>tgG		spectrin repeat containing, nuclear envelope family member 3							79	81	80					14																	95906371		2203	4300	6503	SO:0001583	missense	161176							g.chr14:95906371G>C	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"chromosome 14 open reading frame 49"	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.1953C>G	14.37:g.95906371G>C	ENSP00000334308:p.Cys651Trp					SYNE3_ENST00000557275.1_Missense_Mutation_p.C651W|SYNE3_ENST00000554873.1_Missense_Mutation_p.C408W	p.C651W	NM_152592.3	NP_689805.3					11	1967	-								A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	ENST00000334258.5	37	c.1953C>G	CCDS9935.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.985241	0.35036	.	.	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275	T;T;T	0.34275	1.37;1.37;1.37	4.7	-0.92	0.10475	.	0.489617	0.17424	N	0.174735	T	0.25158	0.0611	L	0.43923	1.385	0.80722	D	1	B;B	0.13145	0.005;0.007	B;B	0.16289	0.009;0.015	T	0.06698	-1.0812	10	0.62326	D	0.03	-2.612	5.415	0.16368	0.3954:0.3047:0.2998:0.0	.	651;651	Q6ZMZ3-2;Q6ZMZ3	.;SYNE3_HUMAN	W	651;408;651	ENSP00000334308:C651W;ENSP00000452154:C408W;ENSP00000450562:C651W	ENSP00000334308:C651W	C	-	3	2	C14orf49	94976124	0.001000	0.12720	0.812000	0.32479	0.957000	0.61999	0.270000	0.18607	0.022000	0.15160	0.561000	0.74099	TGC		0.682	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		40	85	0	0	0	0.010771	0	40	85					C	95906371	G	C	95906371	3	2	353	1	0	0	0	0	1	0	0	0	1776	1311	46	4	1002	4	C14orf49	14	95906371	Missense_Mutation	SNP	G	TCGA-ET-A25I-01A-11D-A16O-08		95906371	11443169	14	7485											
SMG1	23049	broad.mit.edu	37	chr16	18823096	18823096	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cggtcacctgttcagcaactGacatcctcctattcggatca	7	14	3	1			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr16:18823096G>A	ENST00000446231.2	-	62	11307	c.10895C>T	c.(10894-10896)tCa>tTa	p.S3632L	RP11-1035H13.2_ENST00000569096.1_RNA|SMG1_ENST00000389467.3_Missense_Mutation_p.S3633L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3632	FATC. {ECO:0000255|PROSITE- ProRule:PRU00534, ECO:0000255|PROSITE- ProRule:PRU00535}.				DNA repair (GO:0006281)|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)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTCAGCAACTGACATCCTCCT	0.443																																						ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(10894-10896)tCa>tTa		SMG1 phosphatidylinositol 3-kinase-related kinase							303	284	290					16																	18823096		1914	4128	6042	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18823096G>A	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.10895C>T	16.37:g.18823096G>A	ENSP00000402515:p.Ser3632Leu					RP11-1035H13.2_ENST00000569096.1_RNA|SMG1_ENST00000389467.3_Missense_Mutation_p.S3633L	p.S3632L			Q96Q15	SMG1_HUMAN			62	11307	-			3632			FATC.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.10895C>T	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.130406	0.77549	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	D;D	0.83506	-1.73;-1.73	5.83	5.83	0.93111	PIK-related kinase, FATC (2);Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.000000	0.56097	D	0.000034	D	0.92280	0.7551	M	0.93420	3.415	0.40662	D	0.982139	P	0.52170	0.951	P	0.54372	0.75	D	0.93900	0.7187	10	0.87932	D	0	.	20.1162	0.97934	0.0:0.0:1.0:0.0	.	3632	Q96Q15	SMG1_HUMAN	L	3632;3633	ENSP00000402515:S3632L;ENSP00000374118:S3633L	ENSP00000374118:S3633L	S	-	2	0	SMG1	18730597	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.988000	0.76212	2.756000	0.94617	0.655000	0.94253	TCA		0.443	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		13	345	0	0	0	0.001855	0	13	345					A	18823096	G	A	18823096	3	1	353	1	0	0	0	0	1	0	0	0	14795	1294	45	2	98	2	SMG1	16	18823096	Missense_Mutation	SNP	G	TCGA-ET-A25I-01A-11D-A16O-08		18823096	71531657	15	7486											
UNC45B	146862	broad.mit.edu	37	chr17	33507620	33507620	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccttgccagacatcgagaaCtacatgtttgagaatcatga	9	9	1	4			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr17:33507620C>A	ENST00000268876.5	+	18	2401	c.2304C>A	c.(2302-2304)aaC>aaA	p.N768K	UNC45B_ENST00000394570.2_Missense_Mutation_p.N766K|UNC45B_ENST00000591048.1_Missense_Mutation_p.N687K|UNC45B_ENST00000433649.1_Missense_Mutation_p.N766K|UNC45B_ENST00000378449.1_Missense_Mutation_p.N687K	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	768					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				ACATCGAGAACTACATGTTTG	0.557																																						ENST00000268876.5																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59						c.(2302-2304)aaC>aaA		unc-45 homolog B (C. elegans)							83	78	80					17																	33507620		2203	4300	6503	SO:0001583	missense	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33507620C>A	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"cardiomyopathy associated 4"	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.2304C>A	17.37:g.33507620C>A	ENSP00000268876:p.Asn768Lys					UNC45B_ENST00000378449.1_Missense_Mutation_p.N687K|UNC45B_ENST00000433649.1_Missense_Mutation_p.N766K|UNC45B_ENST00000591048.1_Missense_Mutation_p.N687K|UNC45B_ENST00000394570.2_Missense_Mutation_p.N766K	p.N768K	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN			18	2401	+		Ovarian(249;0.17)	768					Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	c.2304C>A	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.614815	0.46631	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T	0.46819	0.86;1.62;0.86	5.2	2.84	0.33178	Armadillo-like helical (1);Armadillo-type fold (1);	0.092791	0.64402	D	0.000001	T	0.48840	0.1522	M	0.69823	2.125	0.39631	D	0.970176	D;P;P	0.56035	0.974;0.692;0.745	P;B;B	0.46758	0.526;0.311;0.164	T	0.51957	-0.8639	10	0.20519	T	0.43	-38.2733	11.9691	0.53053	0.0:0.8307:0.0:0.1693	.	687;766;768	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	K	768;768;766;687	ENSP00000268876:N768K;ENSP00000412840:N766K;ENSP00000367710:N687K	ENSP00000268876:N768K	N	+	3	2	UNC45B	30531733	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.676000	0.46883	1.190000	0.43042	0.462000	0.41574	AAC		0.557	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		30	63	1	0	7.01153e-11	0.007291	1.12609e-10	30	63					A	33507620	C	A	33507620	3	1	353	1	0	0	0	0	1	0	0	0	16986	564	20	4	2370	4	UNC45B	17	33507620	Missense_Mutation	SNP	C	TCGA-ET-A25I-01A-11D-A16O-08		33507620	47687590	16	7487											
KRT35	3886	broad.mit.edu	37	chr17	39633418	39633418	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagggaaggcatgacttggAgggtgagtagtcaggtgcac	17	6	1	2			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr17:39633418A>G	ENST00000393989.1	-	7	1300	c.1258T>C	c.(1258-1260)Tcc>Ccc	p.S420P	KRT35_ENST00000246639.2_Missense_Mutation_p.S390P	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	420	Tail.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CATGACTTGGAGGGTGAGTAG	0.542																																						ENST00000246639.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1168-1170)Tcc>Ccc		keratin 35							55	62	60					17																	39633418		1971	4153	6124	SO:0001583	missense	3886				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity	g.chr17:39633418A>G	X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"-", "Intermediate filaments type I, keratins (acidic)"	6453	protein-coding gene	gene with protein product	"hard keratin type I 5"	602764	"keratin, hair, acidic, 5"	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.1258T>C	17.37:g.39633418A>G	ENSP00000377558:p.Ser420Pro					KRT35_ENST00000393989.1_Missense_Mutation_p.S420P	p.S390P			Q92764	KRT35_HUMAN			7	1300	-		Breast(137;0.000286)	420			Coil 2.|Rod.		O76012|Q92651	Missense_Mutation	SNP	ENST00000393989.1	37	c.1168T>C	CCDS11394.2	.	.	.	.	.	.	.	.	.	.	A	9.160	1.018432	0.19355	.	.	ENSG00000197079	ENST00000246639;ENST00000393989	D;D	0.81996	-1.56;-1.5	5.41	4.33	0.51752	.	0.606715	0.15597	N	0.254113	T	0.78792	0.4339	L	0.58101	1.795	0.33228	D	0.555556	B	0.02656	0.0	B	0.06405	0.002	T	0.77635	-0.2514	10	0.39692	T	0.17	.	9.4108	0.38491	0.8208:0.1792:0.0:0.0	.	420	Q92764	KRT35_HUMAN	P	390;420	ENSP00000246639:S390P;ENSP00000377558:S420P	ENSP00000246639:S390P	S	-	1	0	KRT35	36886944	0.967000	0.33354	0.989000	0.46669	0.115000	0.19883	0.403000	0.20982	1.049000	0.40321	0.460000	0.39030	TCC		0.542	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_002280		3	65	0	0	0	0.004672	0	3	65					G	39633418	A	G	39633418	3	3	353	1	0	0	0	0	1	0	0	0	8472	304	11	3	113	3	KRT35	17	39633418	Missense_Mutation	SNP	A	TCGA-ET-A25I-01A-11D-A16O-08	6125798	39633418	41561792	17	7488											
CPNE1	8904	broad.mit.edu	37	chr20	34218857	34218857	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccacgctgcccacactccAcagtgccatcaggtactcat	6	17	2	0			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr20:34218857A>G	ENST00000317619.3	-	13	1355	c.961T>C	c.(961-963)Tgg>Cgg	p.W321R	CPNE1_ENST00000397442.1_Missense_Mutation_p.W321R|CPNE1_ENST00000317677.5_Missense_Mutation_p.W326R|CPNE1_ENST00000397445.1_Missense_Mutation_p.W321R|CPNE1_ENST00000352393.4_Missense_Mutation_p.W321R|CPNE1_ENST00000397446.1_Missense_Mutation_p.W321R|CPNE1_ENST00000397443.1_Missense_Mutation_p.W321R			Q99829	CPNE1_HUMAN	copine I	321	VWFA.				lipid metabolic process (GO:0006629)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCCACACTCCACAGTGCCATC	0.572																																						ENST00000317619.3																			0				breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(961-963)Tgg>Cgg		copine I							150	122	131					20																	34218857		2203	4300	6503	SO:0001583	missense	8904				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity	g.chr20:34218857A>G	U83246	CCDS13260.1, CCDS46595.1	20q11.22	2009-06-01			ENSG00000214078	ENSG00000214078			2314	protein-coding gene	gene with protein product		604205				9430674	Standard	NM_152925		Approved	CPN1	uc002xdm.3	Q99829	OTTHUMG00000032356	ENST00000317619.3:c.961T>C	20.37:g.34218857A>G	ENSP00000326126:p.Trp321Arg					CPNE1_ENST00000397442.1_Missense_Mutation_p.W321R|CPNE1_ENST00000317677.5_Missense_Mutation_p.W326R|CPNE1_ENST00000397445.1_Missense_Mutation_p.W321R|CPNE1_ENST00000397443.1_Missense_Mutation_p.W321R|CPNE1_ENST00000352393.4_Missense_Mutation_p.W321R|CPNE1_ENST00000397446.1_Missense_Mutation_p.W321R	p.W321R			Q99829	CPNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		13	1355	-	Lung NSC(9;0.0053)|all_lung(11;0.00785)		321			VWFA.		E1P5Q4|Q6IBL3|Q9H243|Q9NTZ7	Missense_Mutation	SNP	ENST00000317619.3	37	c.961T>C	CCDS13260.1	.	.	.	.	.	.	.	.	.	.	A	11.38	1.622606	0.28889	.	.	ENSG00000214078	ENST00000352393;ENST00000317677;ENST00000317619;ENST00000397446;ENST00000397445;ENST00000397443;ENST00000397442;ENST00000437340;ENST00000430570;ENST00000412056	T;T;T;T;T;T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.91	5.54	4.45	0.53987	von Willebrand factor, type A (1);Copine (1);	0.000000	0.85682	U	0.000000	T	0.30696	0.0773	L	0.38531	1.155	0.53688	D	0.999972	D;D;B;D	0.89917	1.0;1.0;0.002;1.0	D;D;B;D	0.91635	0.995;0.998;0.03;0.999	T	0.05716	-1.0868	10	0.11182	T	0.66	-10.5341	11.0657	0.47974	0.9276:0.0:0.0724:0.0	.	326;321;321;301	B0QZ18;A6PVH9;Q99829;Q59EI4	.;.;CPNE1_HUMAN;.	R	321;326;321;321;321;321;321;321;297;297	ENSP00000336945:W321R;ENSP00000317257:W326R;ENSP00000326126:W321R;ENSP00000380588:W321R;ENSP00000380587:W321R;ENSP00000380585:W321R;ENSP00000380584:W321R;ENSP00000415597:W321R;ENSP00000390626:W297R;ENSP00000416962:W297R	ENSP00000326126:W321R	W	-	1	0	CPNE1	33682271	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.949000	0.63596	1.128000	0.42052	0.533000	0.62120	TGG		0.572	CPNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078909.3	NM_152930		4	88	0	0	0	0.001168	0	4	88					G	34218857	A	G	34218857	3	3	353	1	0	0	0	0	1	0	0	0	3811	159	6	3	676	3	CPNE1	20	34218857	Missense_Mutation	SNP	A	TCGA-ET-A25I-01A-11D-A16O-08		34218857	28806663	18	7489											
PWP2	5822	broad.mit.edu	37	chr21	45542148	45542148	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgggaccctgagaacgcggTgcagacgggctccattgagg	16	11	0	3			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr21:45542148T>A	ENST00000291576.7	+	14	1854	c.1727T>A	c.(1726-1728)gTg>gAg	p.V576E		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	576					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		GAGAACGCGGTGCAGACGGGC	0.582																																						ENST00000291576.7																			0				cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21						c.(1726-1728)gTg>gAg		PWP2 periodic tryptophan protein homolog (yeast)							145	112	123					21																	45542148		2203	4300	6503	SO:0001583	missense	5822					cytoplasm|nucleolus	signal transducer activity	g.chr21:45542148T>A		CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"WD repeat domain containing"	9711	protein-coding gene	gene with protein product		601475	"PWP2 (periodic tryptophan protein, yeast) homolog"	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.1727T>A	21.37:g.45542148T>A	ENSP00000291576:p.Val576Glu						p.V576E	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN		STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)	14	1854	+			576					B2RAG8|Q96A77	Missense_Mutation	SNP	ENST00000291576.7	37	c.1727T>A	CCDS33579.1	.	.	.	.	.	.	.	.	.	.	T	1.156	-0.645323	0.03531	.	.	ENSG00000241945	ENST00000291576	T	0.03801	3.8	4.96	3.78	0.43462	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.352416	0.31392	N	0.007726	T	0.03011	0.0089	L	0.28274	0.84	0.32353	N	0.5582	B	0.28552	0.215	B	0.26517	0.07	T	0.24870	-1.0148	10	0.02654	T	1	-3.2886	8.7528	0.34629	0.0:0.1514:0.0:0.8486	.	576	Q15269	PWP2_HUMAN	E	576	ENSP00000291576:V576E	ENSP00000291576:V576E	V	+	2	0	PWP2	44366576	0.998000	0.40836	0.743000	0.31040	0.472000	0.32918	2.189000	0.42621	0.954000	0.37851	0.533000	0.62120	GTG		0.582	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195736.3	NM_005049		18	100	0	0	0	0.007413	0	18	100					A	45542148	T	A	45542148	3	1	353	1	0	0	0	0	1	0	0	0	12844	1696	59	5	1781	5	PWP2	21	45542148	Missense_Mutation	SNP	T	TCGA-ET-A25I-01A-11D-A16O-08		45542148	2587747	19	7490											
GAB4	128954	broad.mit.edu	37	chr22	17472966	17472966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggttcaggttgatggtgCgcaggggcttcttggagcca	17	7	2	2			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr22:17472966C>T	ENST00000400588.1	-	2	382	c.275G>A	c.(274-276)cGc>cAc	p.R92H	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	92	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.							p.R92P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GTTGATGGTGCGCAGGGGCTT	0.502																																						ENST00000400588.1																			1	Substitution - Missense(1)	p.R92P(1)	kidney(1)	breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(274-276)cGc>cAc		GRB2-associated binding protein family, member 4							211	222	218					22																	17472966		2195	4300	6495	SO:0001583	missense	128954							g.chr22:17472966C>T	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"Pleckstrin homology (PH) domain containing"	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.275G>A	22.37:g.17472966C>T	ENSP00000383431:p.Arg92His					GAB4_ENST00000523144.1_5'UTR	p.R92H	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN			2	382	-		all_epithelial(15;0.112)|Lung NSC(13;0.248)	92			PH.			Missense_Mutation	SNP	ENST00000400588.1	37	c.275G>A	CCDS42976.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.296431	0.40594	.	.	ENSG00000215568	ENST00000400588	T	0.12361	2.69	1.81	1.81	0.25067	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	U	0.000001	T	0.32346	0.0826	M	0.75615	2.305	0.52099	D	0.999946	D	0.89917	1.0	D	0.87578	0.998	T	0.08576	-1.0715	10	0.56958	D	0.05	.	9.5993	0.39593	0.0:1.0:0.0:0.0	.	92	Q2WGN9	GAB4_HUMAN	H	92	ENSP00000383431:R92H	ENSP00000383431:R92H	R	-	2	0	GAB4	15852966	1.000000	0.71417	0.953000	0.39169	0.042000	0.13812	6.911000	0.75746	1.301000	0.44836	0.591000	0.81541	CGC		0.502	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		18	244	0	0	0	0.007413	0	18	244					T	17472966	C	T	17472966	3	4	353	1	0	0	0	0	1	0	0	0	6151	768	27	1	1485	1	GAB4	22	17472966	Missense_Mutation	SNP	C	TCGA-ET-A25I-01A-11D-A16O-08		17472966	33831600	20	7491											
NHS	4810	broad.mit.edu	37	chrX	17743871	17743871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctaatgatttcagtgaggctCcaagcagcccgagtgcccag	11	12	1	2			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chrX:17743871C>T	ENST00000380060.3	+	6	1920	c.1582C>T	c.(1582-1584)Cca>Tca	p.P528S	NHS_ENST00000398097.3_Missense_Mutation_p.P372S	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	549					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CAGTGAGGCTCCAAGCAGCCC	0.542																																						ENST00000380060.3																			0				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71						c.(1582-1584)Cca>Tca		Nance-Horan syndrome (congenital cataracts and dental anomalies)							59	54	56					X																	17743871		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17743871C>T		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.1582C>T	X.37:g.17743871C>T	ENSP00000369400:p.Pro528Ser					NHS_ENST00000398097.3_Missense_Mutation_p.P372S	p.P528S	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN			6	1920	+	Hepatocellular(33;0.183)		528					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.1582C>T	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	C	5.720	0.317261	0.10845	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.44083	0.93;0.94	5.86	2.72	0.32119	.	0.563272	0.19833	N	0.105048	T	0.23886	0.0578	L	0.29908	0.895	0.23862	N	0.996634	B;B;B;P	0.41265	0.137;0.034;0.034;0.744	B;B;B;B	0.39027	0.058;0.036;0.036;0.288	T	0.10291	-1.0636	10	0.09843	T	0.71	-2.2613	5.3366	0.15961	0.3306:0.4888:0.105:0.0756	.	549;370;372;528	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	S	528;372;370	ENSP00000369400:P528S;ENSP00000381170:P372S	ENSP00000369397:P370S	P	+	1	0	NHS	17653792	0.903000	0.30736	0.993000	0.49108	0.973000	0.67179	0.049000	0.14099	0.568000	0.29311	0.600000	0.82982	CCA		0.542	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		26	60	0	0	0	0.00632	0	26	60					T	17743871	C	T	17743871	3	4	353	1	0	0	0	0	1	0	0	0	10411	855	30	2	1709	2	NHS	23	17743871	Missense_Mutation	SNP	C	TCGA-ET-A25I-01A-11D-A16O-08		17743871	137526689	21	7492											
PLXNB3	5365	broad.mit.edu	37	chrX	153033718	153033718	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtaggattcccccgagtcGtacccctgtggcgacgagca	12	14	0	0	rs558515318		TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chrX:153033718G>A	ENST00000361971.5	+	4	1215	c.1101G>A	c.(1099-1101)tcG>tcA	p.S367S	PLXNB3_ENST00000538966.1_Silent_p.S390S|PLXNB3_ENST00000538776.1_Silent_p.S20S|PLXNB3_ENST00000538543.1_Intron|U52111.14_ENST00000434284.1_RNA|U52111.14_ENST00000416854.1_RNA|PLXNB3_ENST00000538282.1_Silent_p.S20S	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	367	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCCCGAGTCGTACCCCTGTG	0.687																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(1168-1170)tcG>tcA		plexin B3							39	45	43					X																	153033718		2203	4297	6500	SO:0001819	synonymous_variant	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153033718G>A	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.1101G>A	X.37:g.153033718G>A						PLXNB3_ENST00000538776.1_Silent_p.S20S|PLXNB3_ENST00000361971.5_Silent_p.S367S|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Silent_p.S20S	p.S390S	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			5	1441	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		367			Sema.		B7Z3E6|F5H773|Q9HDA4	Silent	SNP	ENST00000361971.5	37	c.1170G>A	CCDS14729.1																																																																																				0.687	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			37	51	0	0	0	0.007835	0	37	51					A	153033718	G	A	153033718	2	1	353	1	0	0	0	0	0	0	0	1	12125	1132	40	1		1	PLXNB3	23	153033718	Silent	SNP	G	TCGA-ET-A25I-01A-11D-A16O-08	135289847	153033718	2236842	22	7493											
CEP350	9857	broad.mit.edu	37	chr1	180062807	180062807	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggtgagactagttttgctAaaggattttgggccggagtg	15	4	0	1			TCGA-ET-A25J-01A-11D-A16O-08	TCGA-ET-A25J-11A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	190847d8-d1d7-49ed-b1b3-7f44d7bc5757	cdf78c2d-64c7-4ffe-a837-7b24d298b01c	g.chr1:180062807A>G	ENST00000367607.3	+	34	7985	c.7567A>G	c.(7567-7569)Aaa>Gaa	p.K2523E	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2523	CAP-Gly. {ECO:0000255|PROSITE- ProRule:PRU00045}.				microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TAGTTTTGCTAAAGGATTTTG	0.383																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(7567-7569)Aaa>Gaa		centrosomal protein 350kDa							79	86	84					1																	180062807		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:180062807A>G	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.7567A>G	1.37:g.180062807A>G	ENSP00000356579:p.Lys2523Glu					CEP350_ENST00000490141.1_3'UTR	p.K2523E	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			34	7985	+			2523			CAP-Gly.		O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.7567A>G	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	A	12.14	1.848223	0.32699	.	.	ENSG00000135837	ENST00000367607	T	0.74737	-0.87	5.72	3.12	0.35913	Cytoskeleton-associated protein, Gly-rich domain (4);Cytoskeleton-associated protein, Gly-rich conserved site (1);	0.267050	0.25991	N	0.027006	T	0.46405	0.1391	N	0.03194	-0.395	0.32657	N	0.518596	B;B	0.14805	0.001;0.011	B;B	0.25614	0.006;0.062	T	0.39354	-0.9618	9	.	.	.	.	5.2332	0.15434	0.6068:0.1399:0.2533:0.0	.	2523;2523	E7EU22;Q5VT06	.;CE350_HUMAN	E	2523	ENSP00000356579:K2523E	.	K	+	1	0	CEP350	178329430	0.994000	0.37717	0.989000	0.46669	0.997000	0.91878	2.953000	0.49105	0.311000	0.23014	0.533000	0.62120	AAA		0.383	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		37	44	0	0	0	0.069456	0	37	44					G	180062807	A	G	180062807	3	3	354	1	0	0	0	0	1	0	0	0	3254	363	13	3	7697	3	CEP350	1	180062807	Missense_Mutation	SNP	A	TCGA-ET-A25J-01A-11D-A16O-08		180062807	69187814	1	7494											
FMN2	56776	broad.mit.edu	37	chr1	240371115	240371115	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcgggcataccccctccgccCccacttcccggagcgggcat	11	20	0	0			TCGA-ET-A25J-01A-11D-A16O-08	TCGA-ET-A25J-11A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	190847d8-d1d7-49ed-b1b3-7f44d7bc5757	cdf78c2d-64c7-4ffe-a837-7b24d298b01c	g.chr1:240371115C>G	ENST00000319653.9	+	5	3233	c.3003C>G	c.(3001-3003)ccC>ccG	p.P1001P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1001	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCTCCGCCCCCACTTCCCG	0.721																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3001-3003)ccC>ccG		formin 2							4	6	5					1																	240371115		1742	3802	5544	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371115C>G	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3003C>G	1.37:g.240371115C>G							p.P1001P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3233	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1001			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.3003C>G	CCDS31069.2																																																																																				0.721	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		4	12	0	0	0	0.009096	0	4	12					G	240371115	C	G	240371115	2	3	354	1	0	0	0	0	0	0	0	1	5950	610	22	4		4	FMN2	1	240371115	Silent	SNP	C	TCGA-ET-A25J-01A-11D-A16O-08	60308308	240371115	8879506	2	7495											
YSK4	80122	broad.mit.edu	37	chr2	135745373	135745373	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctcttcttcaggttttcGcgttttactaccatggcagt	8	10	3	0			TCGA-ET-A25J-01A-11D-A16O-08	TCGA-ET-A25J-11A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	190847d8-d1d7-49ed-b1b3-7f44d7bc5757	cdf78c2d-64c7-4ffe-a837-7b24d298b01c	g.chr2:135745373G>A	ENST00000375845.3	-	7	1099	c.1069C>T	c.(1069-1071)Cga>Tga	p.R357*	MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392915.1_Nonsense_Mutation_p.R374*|MAP3K19_ENST00000358371.4_Nonsense_Mutation_p.R244*|MAP3K19_ENST00000375844.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	357							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TCAGGTTTTCGCGTTTTACTA	0.378																																						ENST00000375845.3																			0											c.(1069-1071)Cga>Tga		mitogen-activated protein kinase kinase kinase 19							59	56	57					2																	135745373		2203	4300	6503	SO:0001587	stop_gained	80122							g.chr2:135745373G>A	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1069C>T	2.37:g.135745373G>A	ENSP00000365005:p.Arg357*					MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Nonsense_Mutation_p.R374*|MAP3K19_ENST00000358371.4_Nonsense_Mutation_p.R244*|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron	p.R357*	NM_025052.3	NP_079328.3					7	1099	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Nonsense_Mutation	SNP	ENST00000375845.3	37	c.1069C>T	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494529	0.44352	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	.	.	.	4.58	2.09	0.27110	.	0.526148	0.15899	N	0.239179	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.5785	0.22581	0.0:0.0894:0.4993:0.4113	.	.	.	.	X	357;244;374	.	ENSP00000351140:R244X	R	-	1	2	YSK4	135461843	0.000000	0.05858	0.007000	0.13788	0.015000	0.08874	0.149000	0.16243	0.243000	0.21327	-0.291000	0.09656	CGA		0.378	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		20	31	0	0	0	0.043863	0	20	31					A	135745373	G	A	135745373	4	1	354	1	0	0	0	0	0	1	0	0	17492	1095	38	1	2933	1	YSK4	2	135745373	Nonsense_Mutation	SNP	G	TCGA-ET-A25J-01A-11D-A16O-08		135745373	107454000	3	7496											
GTDC1	79712	broad.mit.edu	37	chr2	144704667	144704667	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agcagagacctgaatttaccAtgtagggctgcccaagaaaa	10	9	0	3			TCGA-ET-A25J-01A-11D-A16O-08	TCGA-ET-A25J-11A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	190847d8-d1d7-49ed-b1b3-7f44d7bc5757	cdf78c2d-64c7-4ffe-a837-7b24d298b01c	g.chr2:144704667A>T	ENST00000392869.2	-	11	1481	c.1329T>A	c.(1327-1329)caT>caA	p.H443Q	AC016910.1_ENST00000422799.1_RNA|GTDC1_ENST00000344850.4_Missense_Mutation_p.H443Q|GTDC1_ENST00000542155.1_Missense_Mutation_p.H443Q|GTDC1_ENST00000241391.5_Missense_Mutation_p.H358Q|GTDC1_ENST00000409298.1_Missense_Mutation_p.H325Q|GTDC1_ENST00000409214.1_Missense_Mutation_p.H443Q|GTDC1_ENST00000463875.2_Missense_Mutation_p.H314Q|GTDC1_ENST00000392867.3_Missense_Mutation_p.H358Q	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	443					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		TGAATTTACCATGTAGGGCTG	0.448																																						ENST00000409214.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25						c.(1327-1329)caT>caA		glycosyltransferase-like domain containing 1							78	78	78					2																	144704667		2203	4300	6503	SO:0001583	missense	79712				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr2:144704667A>T	AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"Glycosyltransferase group 1 domain containing"	20887	protein-coding gene	gene with protein product	"mannosyltransferase-like"	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.1329T>A	2.37:g.144704667A>T	ENSP00000376608:p.His443Gln					GTDC1_ENST00000463875.2_Missense_Mutation_p.H314Q|GTDC1_ENST00000344850.4_Missense_Mutation_p.H443Q|GTDC1_ENST00000409298.1_Missense_Mutation_p.H325Q|GTDC1_ENST00000392869.1_Missense_Mutation_p.H443Q|GTDC1_ENST00000241391.5_Missense_Mutation_p.H358Q|GTDC1_ENST00000542155.1_Missense_Mutation_p.H443Q|AC016910.1_ENST00000422799.1_RNA|GTDC1_ENST00000392867.3_Missense_Mutation_p.H358Q	p.H443Q	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0914)	12	1607	-			443					A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Missense_Mutation	SNP	ENST00000392869.2	37	c.1329T>A	CCDS33300.1	.	.	.	.	.	.	.	.	.	.	A	7.499	0.652251	0.14580	.	.	ENSG00000121964	ENST00000392869;ENST00000409214;ENST00000392867;ENST00000409298;ENST00000542155;ENST00000241391;ENST00000344850;ENST00000463875	T;T;T;T;T;T;T;T	0.78924	1.02;1.02;1.03;-1.22;1.02;1.03;1.02;1.01	5.96	4.8	0.61643	.	0.278385	0.40728	N	0.001027	T	0.60025	0.2237	N	0.22421	0.69	0.25383	N	0.988598	P;P;B;P	0.45474	0.859;0.773;0.022;0.664	B;B;B;B	0.37304	0.246;0.246;0.038;0.125	T	0.51124	-0.8745	10	0.16420	T	0.52	-7.3367	10.7671	0.46299	0.8684:0.0:0.1316:0.0	.	443;358;325;443	G1UFN1;Q4AE62-2;B8ZZ45;Q4AE62	.;.;.;GTDC1_HUMAN	Q	443;443;358;325;443;358;443;314	ENSP00000376608:H443Q;ENSP00000386581:H443Q;ENSP00000376606:H358Q;ENSP00000386691:H325Q;ENSP00000438323:H443Q;ENSP00000241391:H358Q;ENSP00000339750:H443Q;ENSP00000437964:H314Q	ENSP00000241391:H358Q	H	-	3	2	GTDC1	144421137	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.574000	0.36482	1.070000	0.40811	0.533000	0.62120	CAT		0.448	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	NM_024659		29	55	0	0	0	0.034045	0	29	55					T	144704667	A	T	144704667	3	4	354	1	0	0	0	0	1	0	0	0	6851	214	8	5	51	5	GTDC1	2	144704667	Missense_Mutation	SNP	A	TCGA-ET-A25J-01A-11D-A16O-08	8959294	144704667	98494706	4	7497											
SHQ1	55164	broad.mit.edu	37	chr3	72890283	72890283	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctttctgatacctcttcacaGggtgtctgctcaatttccca	6	13	5	1	rs376103451		TCGA-ET-A25J-01A-11D-A16O-08	TCGA-ET-A25J-11A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	190847d8-d1d7-49ed-b1b3-7f44d7bc5757	cdf78c2d-64c7-4ffe-a837-7b24d298b01c	g.chr3:72890283G>C	ENST00000325599.8	-	4	538	c.399C>G	c.(397-399)ccC>ccG	p.P133P	SHQ1_ENST00000463369.1_Silent_p.P105P	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	133					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)		p.P133P(1)		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)		CCTCTTCACAGGGTGTCTGCT	0.393																																						ENST00000325599.8																			1	Substitution - coding silent(1)	p.P133P(1)	lung(1)	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.(397-399)ccC>ccG		SHQ1, H/ACA ribonucleoprotein assembly factor							140	129	133					3																	72890283		2203	4300	6503	SO:0001819	synonymous_variant	55164				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding	g.chr3:72890283G>C	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.399C>G	3.37:g.72890283G>C						SHQ1_ENST00000463369.1_Silent_p.P105P	p.P133P	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	538	-		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)	133					B4DL05|Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	Silent	SNP	ENST00000325599.8	37	c.399C>G	CCDS33788.1																																																																																				0.393	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352310.1	NM_018130		31	44	0	0	0	0.045705	0	31	44					C	72890283	G	C	72890283	2	2	354	1	0	0	0	0	0	0	0	1	14292	987	35	4		4	SHQ1	3	72890283	Silent	SNP	G	TCGA-ET-A25J-01A-11D-A16O-08		72890283	125132147	5	7498											
SLC6A3	6531	broad.mit.edu	37	chr5	1403135	1403135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacccagcccagcgcgttggCccagtcggggaagatgtagg	16	12	0	1			TCGA-ET-A25J-01A-11D-A16O-08	TCGA-ET-A25J-11A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	190847d8-d1d7-49ed-b1b3-7f44d7bc5757	cdf78c2d-64c7-4ffe-a837-7b24d298b01c	g.chr5:1403135C>T	ENST00000270349.9	-	13	1796	c.1669G>A	c.(1669-1671)Gcc>Acc	p.A557T	SLC6A3_ENST00000453492.2_Missense_Mutation_p.A557T	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	557					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	AGCGCGTTGGCCCAGTCGGGG	0.612																																						ENST00000270349.9																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1669-1671)Gcc>Acc		solute carrier family 6 (neurotransmitter transporter), member 3	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						74	60	65					5																	1403135		2203	4300	6503	SO:0001583	missense	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1403135C>T		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"Solute carriers"	11049	protein-coding gene	gene with protein product	"dopamine transporter"	126455	"solute carrier family 6 (neurotransmitter transporter, dopamine), member 3", "dopamine transporter 1"	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1669G>A	5.37:g.1403135C>T	ENSP00000270349:p.Ala557Thr					SLC6A3_ENST00000453492.2_Missense_Mutation_p.A557T	p.A557T	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		13	1796	-			557					A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	c.1669G>A	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	c	23.6	4.437895	0.83885	.	.	ENSG00000142319	ENST00000270349;ENST00000453492	T;T	0.77358	-1.09;-1.09	4.04	4.04	0.47022	.	0.122383	0.53938	D	0.000047	D	0.87442	0.6178	M	0.83603	2.65	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	D	0.88960	0.3393	10	0.56958	D	0.05	.	13.7155	0.62693	0.0:1.0:0.0:0.0	.	557	Q01959	SC6A3_HUMAN	T	557	ENSP00000270349:A557T;ENSP00000399806:A557T	ENSP00000270349:A557T	A	-	1	0	SLC6A3	1456135	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	6.908000	0.75730	1.815000	0.52974	0.298000	0.19748	GCC		0.612	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		3	23	0	0	0	0.004672	0	3	23					T	1403135	C	T	1403135	3	4	354	1	0	0	0	0	1	0	0	0	14685	739	26	2	205	2	SLC6A3	5	1403135	Missense_Mutation	SNP	C	TCGA-ET-A25J-01A-11D-A16O-08		1403135	179512125	6	7499											
TREML2	79865	broad.mit.edu	37	chr6	41162468	41162468	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accatcacaccagtggtaaaAggggcatcagggcctgaggt	13	10	2	1			TCGA-ET-A25J-01A-11D-A16O-08	TCGA-ET-A25J-11A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	190847d8-d1d7-49ed-b1b3-7f44d7bc5757	cdf78c2d-64c7-4ffe-a837-7b24d298b01c	g.chr6:41162468A>G	ENST00000483722.1	-	3	665	c.480T>C	c.(478-480)ccT>ccC	p.P160P		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	160					T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CAGTGGTAAAAGGGGCATCAG	0.542																																						ENST00000483722.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18						c.(478-480)ccT>ccC		triggering receptor expressed on myeloid cells-like 2							140	116	124					6																	41162468		2203	4300	6503	SO:0001819	synonymous_variant	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41162468A>G	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"Immunoglobulin superfamily / V-set domain containing"	21092	protein-coding gene	gene with protein product	"TREM-like transcript 2"	609715	"chromosome 6 open reading frame 76"	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.480T>C	6.37:g.41162468A>G							p.P160P	NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN			3	665	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		160					Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Silent	SNP	ENST00000483722.1	37	c.480T>C	CCDS4853.2																																																																																				0.542	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		3	46	0	0	0	0.004672	0	3	46					G	41162468	A	G	41162468	2	3	354	1	0	0	0	0	0	0	0	1	16470	59	3	3		3	TREML2	6	41162468	Silent	SNP	A	TCGA-ET-A25J-01A-11D-A16O-08		41162468	129952599	7	7500											
KIAA0240	23506	broad.mit.edu	37	chr6	42796798	42796798	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatattaaagggcagcgggCagcaagccccatcaaatgtg	11	10	2	0			TCGA-ET-A25J-01A-11D-A16O-08	TCGA-ET-A25J-11A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	190847d8-d1d7-49ed-b1b3-7f44d7bc5757	cdf78c2d-64c7-4ffe-a837-7b24d298b01c	g.chr6:42796798C>T	ENST00000314073.5	+	6	903	c.727C>T	c.(727-729)Cag>Tag	p.Q243*	GLTSCR1L_ENST00000394168.1_Nonsense_Mutation_p.Q243*			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	243																	GGGCAGCGGGCAGCAAGCCCC	0.438																																						ENST00000314073.5																			0											c.(727-729)Cag>Tag		GLTSCR1-like							65	67	66					6																	42796798		2203	4300	6503	SO:0001587	stop_gained	23506							g.chr6:42796798C>T	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"KIAA0240"	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.727C>T	6.37:g.42796798C>T	ENSP00000313933:p.Gln243*					GLTSCR1L_ENST00000394168.1_Nonsense_Mutation_p.Q243*	p.Q243*							6	903	+								A1L3W2|Q5TFZ3|Q92514	Nonsense_Mutation	SNP	ENST00000314073.5	37	c.727C>T	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	C	37	6.061394	0.97246	.	.	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	.	.	.	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-9.6085	19.1617	0.93535	0.0:1.0:0.0:0.0	.	.	.	.	X	243	.	ENSP00000313933:Q243X	Q	+	1	0	KIAA0240	42904776	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.318000	0.51975	2.581000	0.87130	0.655000	0.94253	CAG		0.438	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		32	47	0	0	0	0.037714	0	32	47					T	42796798	C	T	42796798	4	4	354	1	0	0	0	0	0	1	0	0	8164	711	25	2	741	2	KIAA0240	6	42796798	Nonsense_Mutation	SNP	C	TCGA-ET-A25J-01A-11D-A16O-08	1634330	42796798	128318269	8	7501											
ABCC10	89845	broad.mit.edu	37	chr6	43415432	43415432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccaccagctgggcaccgGctggctgacccaggggggcg	16	16	0	1			TCGA-ET-A25J-01A-11D-A16O-08	TCGA-ET-A25J-11A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	190847d8-d1d7-49ed-b1b3-7f44d7bc5757	cdf78c2d-64c7-4ffe-a837-7b24d298b01c	g.chr6:43415432G>A	ENST00000372530.4	+	18	3931	c.3716G>A	c.(3715-3717)gGc>gAc	p.G1239D	ABCC10_ENST00000244533.3_Missense_Mutation_p.G1211D	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1239					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)	CTGGGCACCGGCTGGCTGACC	0.632																																						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.(3631-3633)gGc>gAc		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							145	172	163					6																	43415432		2203	4298	6501	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43415432G>A	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.3716G>A	6.37:g.43415432G>A	ENSP00000361608:p.Gly1239Asp					ABCC10_ENST00000372530.4_Missense_Mutation_p.G1239D	p.G1211D	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)		16	3991	+	all_lung(25;0.00536)		1239					Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.3632G>A	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	G	9.049	0.991602	0.18966	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.90900	-2.74;-2.75	5.61	4.74	0.60224	.	0.479972	0.23496	N	0.047559	T	0.60327	0.2260	N	0.12746	0.255	0.34207	D	0.673873	B;B	0.11235	0.001;0.004	B;B	0.10450	0.005;0.004	T	0.51458	-0.8703	10	0.02654	T	1	-22.9541	5.3476	0.16018	0.2734:0.0:0.7266:0.0	.	1211;1239	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	D	1239;1211	ENSP00000361608:G1239D;ENSP00000244533:G1211D	ENSP00000244533:G1211D	G	+	2	0	ABCC10	43523410	0.921000	0.31238	0.967000	0.41034	0.517000	0.34286	1.539000	0.36104	2.641000	0.89580	0.591000	0.81541	GGC		0.632	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		5	291	0	0	0	0.014758	0	5	291					A	43415432	G	A	43415432	3	1	354	1	0	0	0	0	1	0	0	0	50	1203	42	2	3694	2	ABCC10	6	43415432	Missense_Mutation	SNP	G	TCGA-ET-A25J-01A-11D-A16O-08	618634	43415432	127699635	9	7502											
SDK1	221935	broad.mit.edu	37	chr7	4008968	4008968	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggggtctacagatcgcgccCgtcttcatccaggatgccgg	14	13	3	1			TCGA-ET-A25J-01A-11D-A16O-08	TCGA-ET-A25J-11A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	190847d8-d1d7-49ed-b1b3-7f44d7bc5757	cdf78c2d-64c7-4ffe-a837-7b24d298b01c	g.chr7:4008968C>A	ENST00000404826.2	+	11	1765	c.1626C>A	c.(1624-1626)ccC>ccA	p.P542P	SDK1_ENST00000389531.3_Silent_p.P542P	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	542	Ig-like C2-type 5.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.P542P(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGATCGCGCCCGTCTTCATCC	0.552																																						ENST00000404826.2																			1	Substitution - coding silent(1)	p.P542P(1)	lung(1)	NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(1624-1626)ccC>ccA		sidekick cell adhesion molecule 1							172	181	178					7																	4008968		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4008968C>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1626C>A	7.37:g.4008968C>A						SDK1_ENST00000389531.3_Silent_p.P542P	p.P542P	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	11	1765	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	542			Ig-like C2-type 5.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.1626C>A	CCDS34590.1																																																																																				0.552	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		7	278	1	0	0.00198382	0.02938	0.00643031	7	278					A	4008968	C	A	4008968	2	1	354	1	0	0	0	0	0	0	0	1	13968	639	23	4		4	SDK1	7	4008968	Silent	SNP	C	TCGA-ET-A25J-01A-11D-A16O-08		4008968	155129695	10	7503											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A25J-01A-11D-A16O-08	TCGA-ET-A25J-11A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	190847d8-d1d7-49ed-b1b3-7f44d7bc5757	cdf78c2d-64c7-4ffe-a837-7b24d298b01c	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		29	36	0	0	0	0.034045	0	29	36					T	140453136	A	T	140453136	3	4	354	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A25J-01A-11D-A16O-08	136444168	140453136	18685527	11	7504											
IPMK	253430	broad.mit.edu	37	chr10	59956151	59956151	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcatacatcttggacaagcTtttgcccactgaagactcta	7	12	2	2			TCGA-ET-A25J-01A-11D-A16O-08	TCGA-ET-A25J-11A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	190847d8-d1d7-49ed-b1b3-7f44d7bc5757	cdf78c2d-64c7-4ffe-a837-7b24d298b01c	g.chr10:59956151T>C	ENST00000373935.3	-	6	1259	c.937A>G	c.(937-939)Agc>Ggc	p.S313G		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	313					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|neural tube formation (GO:0001841)|small molecule metabolic process (GO:0044281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol tetrakisphosphate 3-kinase activity (GO:0000824)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)|inositol-1,4,5-trisphosphate 6-kinase activity (GO:0000823)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						TTGGACAAGCTTTTGCCCACT	0.383																																						ENST00000373935.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						c.(937-939)Agc>Ggc		inositol polyphosphate multikinase							125	128	127					10																	59956151		2203	4300	6503	SO:0001583	missense	253430					nucleus	ATP binding|inositol trisphosphate 6-kinase activity	g.chr10:59956151T>C	AF432853	CCDS7250.1	10q21.1	2010-11-29		2004-07-22	ENSG00000151151	ENSG00000151151			20739	protein-coding gene	gene with protein product		609851				12223481, 12027805	Standard	NM_152230		Approved		uc001jkb.3	Q8NFU5	OTTHUMG00000018268	ENST00000373935.3:c.937A>G	10.37:g.59956151T>C	ENSP00000363046:p.Ser313Gly						p.S313G	NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN			6	1259	-			313						Missense_Mutation	SNP	ENST00000373935.3	37	c.937A>G	CCDS7250.1	.	.	.	.	.	.	.	.	.	.	T	9.756	1.168861	0.21621	.	.	ENSG00000151151	ENST00000373935	T	0.19105	2.17	6.07	4.75	0.60458	.	0.254258	0.51477	D	0.000081	T	0.11153	0.0272	N	0.16478	0.41	0.24205	N	0.995494	B	0.09022	0.002	B	0.08055	0.003	T	0.20174	-1.0283	9	.	.	.	-0.6127	7.3734	0.26815	0.0:0.1636:0.0:0.8364	.	313	Q8NFU5	IPMK_HUMAN	G	313	ENSP00000363046:S313G	.	S	-	1	0	IPMK	59626157	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	1.580000	0.36547	2.330000	0.79161	0.477000	0.44152	AGC		0.383	IPMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048142.1	NM_152230		3	153	0	0	0	0.004672	0	3	153					C	59956151	T	C	59956151	3	2	354	1	0	0	0	0	1	0	0	0	7792	1609	56	3	317	3	IPMK	10	59956151	Missense_Mutation	SNP	T	TCGA-ET-A25J-01A-11D-A16O-08		59956151	75578596	12	7505											
ZBTB45	84878	broad.mit.edu	37	chr19	59028621	59028621	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtgcgagtggcgggggCacaggggtgggcaggggcgt	25	7	0	0			TCGA-ET-A25J-01A-11D-A16O-08	TCGA-ET-A25J-11A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	190847d8-d1d7-49ed-b1b3-7f44d7bc5757	cdf78c2d-64c7-4ffe-a837-7b24d298b01c	g.chr19:59028621C>G	ENST00000594051.1	-	2	900	c.420G>C	c.(418-420)gtG>gtC	p.V140V	ZBTB45_ENST00000354590.3_Silent_p.V140V|ZBTB45_ENST00000600990.1_Silent_p.V140V			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	140	Pro-rich.				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(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GTGGCGGGGGCACAGGGGTGG	0.701											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(164;1383 2017 5233 27540 46677)	ENST00000594051.1																			0				breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11						c.(418-420)gtG>gtC		zinc finger and BTB domain containing 45							6	8	8					19																	59028621		1874	3770	5644	SO:0001819	synonymous_variant	84878				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:59028621C>G	AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	23715	protein-coding gene	gene with protein product			"zinc finger protein 499"	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.420G>C	19.37:g.59028621C>G			OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1035	ZBTB45_ENST00000354590.3_Silent_p.V140V|ZBTB45_ENST00000600990.1_Silent_p.V140V	p.V140V			Q96K62	ZBT45_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)	2	900	-		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	140			Pro-rich.			Silent	SNP	ENST00000594051.1	37	c.420G>C	CCDS12984.1																																																																																				0.701	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1	NM_032792		4	11	0	0	0	0.02938	0	4	11					G	59028621	C	G	59028621	2	3	354	1	0	0	0	0	0	0	0	1	17543	697	25	4		4	ZBTB45	19	59028621	Silent	SNP	C	TCGA-ET-A25J-01A-11D-A16O-08		59028621	100362	13	7506											
AR	367	broad.mit.edu	37	chrX	66765158	66765158	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cggcgccagtttgctgctgcTgcagcagcagcagcagcagc	14	14	0	0	rs78686797|rs3032358|rs4045402		TCGA-ET-A25J-01A-11D-A16O-08	TCGA-ET-A25J-11A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	190847d8-d1d7-49ed-b1b3-7f44d7bc5757	cdf78c2d-64c7-4ffe-a837-7b24d298b01c	g.chrX:66765158T>A	ENST00000374690.3	+	1	694	c.170T>A	c.(169-171)cTg>cAg	p.L57Q	AR_ENST00000504326.1_Missense_Mutation_p.L57Q|AR_ENST00000396044.3_Missense_Mutation_p.L57Q|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	57	Modulating.|Poly-Leu.		L -> Q (in prostate cancer).		androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|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)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.L57Q(3)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	TTGCTGCTGCTgcagcagcag	0.667									Androgen Insensitivity Syndrome																													ENST00000374690.3																			3	Substitution - Missense(3)	p.L57Q(3)	lung(1)|endometrium(1)|central_nervous_system(1)	breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67						c.(169-171)cTg>cAg		androgen receptor	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						9	12	11					X																	66765158		2134	4208	6342	SO:0001583	missense	367	Androgen Insensitivity Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66765158T>A	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.170T>A	X.37:g.66765158T>A	ENSP00000363822:p.Leu57Gln					AR_ENST00000396044.3_Missense_Mutation_p.L57Q|AR_ENST00000504326.1_Missense_Mutation_p.L57Q|AR_ENST00000513847.1_3'UTR	p.L57Q	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN			1	694	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	57		L -> Q (in prostate cancer).	Modulating.|Poly-Leu.		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	c.170T>A	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	N	0.020	-1.439011	0.01098	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	D;D;D	0.83992	-1.79;-1.79;-1.79	.	.	.	.	0.157526	0.30101	N	0.010412	T	0.56441	0.1985	N	0.03608	-0.345	0.09310	N	0.999999	.	.	.	.	.	.	T	0.48927	-0.8991	6	0.20519	T	0.43	.	.	.	.	.	57;57;55	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	Q	57	ENSP00000363822:L57Q;ENSP00000421155:L57Q;ENSP00000379359:L57Q	ENSP00000363822:L57Q	L	+	2	0	AR	66681883	0.999000	0.42202	0.884000	0.34674	0.488000	0.33401	0.326000	0.19646	0.000000	0.14550	0.000000	0.15137	CTG		0.667	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		3	18	0	0	0	0.004672	0	3	18					A	66765158	T	A	66765158	3	1	354	1	0	0	0	0	1	0	0	0	836	1580	55	5	172	5	AR	23	66765158	Missense_Mutation	SNP	T	TCGA-ET-A25J-01A-11D-A16O-08		66765158	88505402	14	7507											
KIF1B	23095	broad.mit.edu	37	chr1	10397153	10397153	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgacttttcgtctgttgcaAtgactcgttctggtctgtcc	10	10	3	2			TCGA-ET-A25K-01A-11D-A16O-08	TCGA-ET-A25K-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207	030113e6-9473-4c38-8aaa-a0e3bd28c248	g.chr1:10397153A>G	ENST00000377086.1	+	30	3353	c.3151A>G	c.(3151-3153)Atg>Gtg	p.M1051V	KIF1B_ENST00000263934.6_Missense_Mutation_p.M1005V|KIF1B_ENST00000377081.1_Missense_Mutation_p.M1051V			O60333	KIF1B_HUMAN	kinesin family member 1B	1051					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)		GTCTGTTGCAATGACTCGTTC	0.428																																						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.(3151-3153)Atg>Gtg		kinesin family member 1B							191	189	190					1																	10397153		2203	4300	6503	SO:0001583	missense	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.chr1:10397153A>G	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.3151A>G	1.37:g.10397153A>G	ENSP00000366290:p.Met1051Val					KIF1B_ENST00000263934.6_Missense_Mutation_p.M1005V|KIF1B_ENST00000377081.1_Missense_Mutation_p.M1051V	p.M1051V			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)	30	3353	+	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)	1051					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.3151A>G		.	.	.	.	.	.	.	.	.	.	A	13.33	2.204399	0.38905	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.72394	-0.65;-0.65;-0.65	5.95	4.82	0.62117	.	0.038173	0.85682	D	0.000000	T	0.56016	0.1957	L	0.34521	1.04	0.43408	D	0.995543	B;B;B;B;B;B	0.22746	0.007;0.01;0.074;0.003;0.0;0.002	B;B;B;B;B;B	0.20767	0.008;0.005;0.031;0.027;0.001;0.002	T	0.47169	-0.9138	10	0.14252	T	0.57	.	10.2618	0.43431	0.7358:0.0:0.0:0.2642	.	1037;1011;1051;1025;1051;1005	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	V	1051;1005;1051;1051	ENSP00000263934:M1005V;ENSP00000366290:M1051V;ENSP00000366284:M1051V	ENSP00000263934:M1005V	M	+	1	0	KIF1B	10319740	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.660000	0.61511	1.056000	0.40484	0.533000	0.62120	ATG		0.428	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			53	120	0	0	0	0.00361	0	53	120					G	10397153	A	G	10397153	3	3	355	1	0	0	0	0	1	0	0	0	8284	101	4	3	4608	3	KIF1B	1	10397153	Missense_Mutation	SNP	A	TCGA-ET-A25K-01A-11D-A16O-08		10397153	238853468	1	7508											
CSMD2	114784	broad.mit.edu	37	chr1	34190211	34190211	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcccgagtcacagctgaaGgtcaccagcgcgcccacgta	11	15	2	1			TCGA-ET-A25K-01A-11D-A16O-08	TCGA-ET-A25K-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207	030113e6-9473-4c38-8aaa-a0e3bd28c248	g.chr1:34190211G>A	ENST00000373381.4	-	18	2966	c.2790C>T	c.(2788-2790)acC>acT	p.T930T		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	890	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CACAGCTGAAGGTCACCAGCG	0.562																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(2788-2790)acC>acT		CUB and Sushi multiple domains 2							82	77	79					1																	34190211		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34190211G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.2790C>T	1.37:g.34190211G>A							p.T930T	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			18	2966	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	890			CUB 6.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37	c.2790C>T																																																																																					0.562	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		5	66	0	0	0	0.000602	0	5	66					A	34190211	G	A	34190211	2	1	355	1	0	0	0	0	0	0	0	1	3945	987	35	2		2	CSMD2	1	34190211	Silent	SNP	G	TCGA-ET-A25K-01A-11D-A16O-08	23793058	34190211	215060410	2	7509											
VWA3B	200403	broad.mit.edu	37	chr2	98853095	98853095	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggcttggtcgccaagaaaCtcaccctcatggatgccttg	10	12	2	1			TCGA-ET-A25K-01A-11D-A16O-08	TCGA-ET-A25K-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207	030113e6-9473-4c38-8aaa-a0e3bd28c248	g.chr2:98853095C>A	ENST00000477737.1	+	19	2779	c.2575C>A	c.(2575-2577)Ctc>Atc	p.L859I		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	859										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						CGCCAAGAAACTCACCCTCAT	0.478																																						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.(2575-2577)Ctc>Atc		von Willebrand factor A domain containing 3B							105	111	109					2																	98853095		2008	4176	6184	SO:0001583	missense	200403							g.chr2:98853095C>A	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.2575C>A	2.37:g.98853095C>A	ENSP00000417955:p.Leu859Ile						p.L859I	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			19	2779	+			859					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.2575C>A	CCDS42718.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.9|24.9	4.583693|4.583693	0.86748|0.86748	.|.	.|.	ENSG00000168658|ENSG00000168658	ENST00000477737|ENST00000473149	T|.	0.29655|.	1.56|.	4.93|4.93	4.93|4.93	0.64822|0.64822	.|.	0.000000|.	0.56097|.	D|.	0.000035|.	T|T	0.69993|0.69993	0.3173|0.3173	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.999;1.0;1.0;0.999|.	D;D;D;D|.	0.97110|.	0.994;0.997;1.0;0.996|.	T|T	0.68006|0.68006	-0.5523|-0.5523	10|5	0.87932|.	D|.	0|.	.|.	17.2494|17.2494	0.87038|0.87038	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	251;859;859;859|.	Q502W6-5;Q502W6;Q502W6-8;Q502W6-6|.	.;VWA3B_HUMAN;.;.|.	I|N	859|269	ENSP00000417955:L859I|.	ENSP00000417955:L859I|.	L|T	+|+	1|2	0|0	VWA3B|VWA3B	98219527|98219527	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	4.962000|4.962000	0.63687|0.63687	2.429000|2.429000	0.82318|0.82318	0.591000|0.591000	0.81541|0.81541	CTC|ACT		0.478	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		8	93	1	0	1.06961e-07	0.00308	6.68508e-07	8	93					A	98853095	C	A	98853095	3	1	355	1	0	0	0	0	1	0	0	0	17238	565	20	4	2645	4	VWA3B	2	98853095	Missense_Mutation	SNP	C	TCGA-ET-A25K-01A-11D-A16O-08		98853095	144346278	3	7510											
RANBP2	5903	broad.mit.edu	37	chr2	109382494	109382494	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgaagttgcatgactcttcTggaagtcaggtgggaacagg	14	6	3	2			TCGA-ET-A25K-01A-11D-A16O-08	TCGA-ET-A25K-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207	030113e6-9473-4c38-8aaa-a0e3bd28c248	g.chr2:109382494T>G	ENST00000283195.6	+	20	5625	c.5499T>G	c.(5497-5499)tcT>tcG	p.S1833S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1833					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						ATGACTCTTCTGGAAGTCAGG	0.413																																						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.(5497-5499)tcT>tcG		RAN binding protein 2							78	83	81					2																	109382494		2203	4300	6503	SO:0001819	synonymous_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.chr2:109382494T>G	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.5499T>G	2.37:g.109382494T>G							p.S1833S	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			20	5625	+			1833					Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.5499T>G	CCDS2079.1																																																																																				0.413	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		29	65	0	0	0	0.007291	0	29	65					G	109382494	T	G	109382494	2	3	355	1	0	0	0	0	0	0	0	1	13028	1567	55	5		5	RANBP2	2	109382494	Silent	SNP	T	TCGA-ET-A25K-01A-11D-A16O-08	10529399	109382494	133816879	4	7511											
TTN	7273	broad.mit.edu	37	chr2	179455272	179455272	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accaccatcactgagaggctTtgtccacaccaaatcagctg	7	14	2	1			TCGA-ET-A25K-01A-11D-A16O-08	TCGA-ET-A25K-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207	030113e6-9473-4c38-8aaa-a0e3bd28c248	g.chr2:179455272T>G	ENST00000591111.1	-	254	56481	c.56257A>C	c.(56257-56259)Aag>Cag	p.K18753Q	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K20394Q|TTN_ENST00000359218.5_Missense_Mutation_p.K11454Q|TTN_ENST00000460472.2_Missense_Mutation_p.K11329Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K17826Q|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K11521Q|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18753	Fibronectin type-III 36. {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)			CTGAGAGGCTTTGTCCACACC	0.443																																						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.(61180-61182)Aag>Cag		titin							107	108	108					2																	179455272		1951	4142	6093	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179455272T>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.56257A>C	2.37:g.179455272T>G	ENSP00000465570:p.Lys18753Gln					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K18753Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K17826Q|TTN_ENST00000342175.6_Missense_Mutation_p.K11521Q|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K11454Q|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K11329Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA	p.K20394Q	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)		304	61404	-			18753			Fibronectin type-III 47.		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.61180A>C		.	.	.	.	.	.	.	.	.	.	T	12.33	1.905949	0.33628	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	6.11	6.11	0.99139	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69531	0.3121	L	0.55213	1.73	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.71593	-0.4546	9	0.87932	D	0	.	16.7021	0.85357	0.0:0.0:0.0:1.0	.	11329;11454;11521;18753	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	17826;11329;11521;11454;11327	ENSP00000343764:K17826Q;ENSP00000434586:K11329Q;ENSP00000340554:K11521Q;ENSP00000352154:K11454Q	ENSP00000340554:K11521Q	K	-	1	0	TTN	179163518	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.991000	0.88244	2.343000	0.79666	0.533000	0.62120	AAG		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		54	94	0	0	0	0.00361	0	54	94					G	179455272	T	G	179455272	3	3	355	1	0	0	0	0	1	0	0	0	16732	1850	64	5	47035	5	TTN	2	179455272	Missense_Mutation	SNP	T	TCGA-ET-A25K-01A-11D-A16O-08	70072778	179455272	63744101	5	7512											
FILIP1L	11259	broad.mit.edu	37	chr3	99569769	99569769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttgaagggtgagctgtgCcgtcagcctttgctgttcat	12	9	3	2			TCGA-ET-A25K-01A-11D-A16O-08	TCGA-ET-A25K-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207	030113e6-9473-4c38-8aaa-a0e3bd28c248	g.chr3:99569769C>T	ENST00000354552.3	-	5	1221	c.751G>A	c.(751-753)Gca>Aca	p.A251T	FILIP1L_ENST00000471562.1_Missense_Mutation_p.A11T|FILIP1L_ENST00000487087.1_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.A11T|FILIP1L_ENST00000331335.5_Missense_Mutation_p.A251T|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	251						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						GTGAGCTGTGCCGTCAGCCTT	0.488																																						ENST00000331335.5																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(751-753)Gca>Aca		filamin A interacting protein 1-like							138	131	133					3																	99569769		1958	4160	6118	SO:0001583	missense	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99569769C>T		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"downregulated in ovarian cancer 1", "GPBP-interacting protein of 130 kDa"	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.751G>A	3.37:g.99569769C>T	ENSP00000346560:p.Ala251Thr					FILIP1L_ENST00000383694.2_Missense_Mutation_p.A11T|CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000354552.3_Missense_Mutation_p.A251T|FILIP1L_ENST00000471562.1_Missense_Mutation_p.A11T|FILIP1L_ENST00000487087.1_Intron|FILIP1L_ENST00000476723.1_Intron	p.A251T	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN			5	1221	-			251					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	ENST00000354552.3	37	c.751G>A	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.540623	0.65085	.	.	ENSG00000168386	ENST00000354552;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T	0.22945	2.25;1.94;2.25;1.94;1.93	6.17	5.3	0.74995	.	0.124330	0.35677	N	0.003051	T	0.17704	0.0425	N	0.22421	0.69	0.40667	D	0.982181	P;P	0.43094	0.763;0.799	B;B	0.35971	0.215;0.202	T	0.03259	-1.1055	10	0.25751	T	0.34	-13.8695	17.0431	0.86495	0.1282:0.8718:0.0:0.0	.	251;251	Q4L180-2;Q4L180	.;FIL1L_HUMAN	T	251;11;251;11;11;11	ENSP00000346560:A251T;ENSP00000419642:A11T;ENSP00000327880:A251T;ENSP00000373192:A11T;ENSP00000419874:A11T	ENSP00000327880:A251T	A	-	1	0	FILIP1L	101052459	0.995000	0.38212	0.999000	0.59377	0.991000	0.79684	3.266000	0.51569	1.610000	0.50200	0.655000	0.94253	GCA		0.488	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		4	144	0	0	0	0.000248	0	4	144					T	99569769	C	T	99569769	3	4	355	1	0	0	0	0	1	0	0	0	5895	739	26	2	2685	2	FILIP1L	3	99569769	Missense_Mutation	SNP	C	TCGA-ET-A25K-01A-11D-A16O-08		99569769	98452661	6	7513											
MANBA	4126	broad.mit.edu	37	chr4	103557044	103557044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgagtgtcatcgaataatccGagtgaagatctgacacacca	9	9	2	4			TCGA-ET-A25K-01A-11D-A16O-08	TCGA-ET-A25K-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207	030113e6-9473-4c38-8aaa-a0e3bd28c248	g.chr4:103557044G>A	ENST00000226578.4	-	15	2234	c.2135C>T	c.(2134-2136)tCg>tTg	p.S712L	MANBA_ENST00000505239.1_Missense_Mutation_p.S655L	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	712					cellular protein modification process (GO:0006464)|glycoprotein catabolic process (GO:0006516)|mannan catabolic process (GO:0046355)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)	beta-mannosidase activity (GO:0004567)|mannose binding (GO:0005537)			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		CGAATAATCCGAGTGAAGATC	0.363																																						ENST00000226578.4																			0				cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2134-2136)tCg>tTg		mannosidase, beta A, lysosomal							93	89	90					4																	103557044		2203	4300	6503	SO:0001583	missense	4126				carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding	g.chr4:103557044G>A		CCDS3658.1	4q24	2013-09-20			ENSG00000109323	ENSG00000109323	3.2.1.25		6831	protein-coding gene	gene with protein product		609489				7876128	Standard	NM_005908		Approved		uc003hwg.3	O00462	OTTHUMG00000131123	ENST00000226578.4:c.2135C>T	4.37:g.103557044G>A	ENSP00000226578:p.Ser712Leu					MANBA_ENST00000505239.1_Missense_Mutation_p.S655L	p.S712L	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)	15	2234	-		Hepatocellular(203;0.217)	712					Q96BC3|Q9NYX9	Missense_Mutation	SNP	ENST00000226578.4	37	c.2135C>T	CCDS3658.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.743432	0.30865	.	.	ENSG00000109323	ENST00000226578;ENST00000505239	T;T	0.44083	0.93;0.93	5.42	-2.69	0.06022	.	1.532230	0.03442	N	0.209428	T	0.37073	0.0990	M	0.66939	2.045	0.09310	N	1	B;B	0.20459	0.045;0.002	B;B	0.08055	0.003;0.001	T	0.20605	-1.0270	10	0.33940	T	0.23	-2.4738	3.7975	0.08746	0.132:0.0904:0.3288:0.4488	.	655;712	E9PFW2;O00462	.;MANBA_HUMAN	L	712;655	ENSP00000226578:S712L;ENSP00000427322:S655L	ENSP00000226578:S712L	S	-	2	0	MANBA	103776092	0.000000	0.05858	0.002000	0.10522	0.078000	0.17371	-0.578000	0.05841	-0.047000	0.13423	-0.137000	0.14449	TCG		0.363	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253803.2			4	69	0	0	0	0.000248	0	4	69					A	103557044	G	A	103557044	3	1	355	1	0	0	0	0	1	0	0	0	9219	1059	37	1	516	1	MANBA	4	103557044	Missense_Mutation	SNP	G	TCGA-ET-A25K-01A-11D-A16O-08		103557044	87597232	7	7514											
TES	26136	broad.mit.edu	37	chr7	115891896	115891896	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggctatgataaactgtggcAcccagcttgttttgtctgca	10	9	1	1			TCGA-ET-A25K-01A-11D-A16O-08	TCGA-ET-A25K-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207	030113e6-9473-4c38-8aaa-a0e3bd28c248	g.chr7:115891896A>C	ENST00000358204.4	+	5	1000	c.785A>C	c.(784-786)cAc>cCc	p.H262P	AC073130.3_ENST00000444244.1_RNA|AC002066.1_ENST00000446355.2_RNA|TES_ENST00000537767.1_Missense_Mutation_p.H20P|TES_ENST00000393481.2_Missense_Mutation_p.H253P	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	262	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			AAACTGTGGCACCCAGCTTGT	0.468																																						ENST00000358204.4																			0				endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(784-786)cAc>cCc		testis derived transcript (3 LIM domains)							128	125	126					7																	115891896		2203	4300	6503	SO:0001583	missense	26136				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding	g.chr7:115891896A>C	AJ250865	CCDS5763.1, CCDS5764.1	7q31.2	2004-04-20			ENSG00000135269	ENSG00000135269			14620	protein-coding gene	gene with protein product		606085				10950921	Standard	NM_015641		Approved	DKFZP586B2022, TESS-2, TESTIN	uc003vho.3	Q9UGI8	OTTHUMG00000023092	ENST00000358204.4:c.785A>C	7.37:g.115891896A>C	ENSP00000350937:p.His262Pro					TES_ENST00000393481.2_Missense_Mutation_p.H253P|TES_ENST00000537767.1_Missense_Mutation_p.H20P|AC073130.3_ENST00000444244.1_RNA|AC002066.1_ENST00000446355.2_RNA	p.H262P	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		5	1000	+	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	262			LIM zinc-binding 1.		A4D0U6|Q9GZQ1|Q9HAJ9	Missense_Mutation	SNP	ENST00000358204.4	37	c.785A>C	CCDS5763.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.9|25.9	4.689350|4.689350	0.88735|0.88735	.|.	.|.	ENSG00000135269|ENSG00000135269	ENST00000358204;ENST00000537767;ENST00000257721;ENST00000393481|ENST00000393484	D;D;D|.	0.96365|.	-3.99;-3.99;-3.99|.	5.39|5.39	5.39|5.39	0.77823|0.77823	Zinc finger, LIM-type (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.89301|0.89301	0.6676|0.6676	H|H	0.98802|0.98802	4.335|4.335	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.93610|0.93610	0.6938|0.6938	10|5	0.87932|.	D|.	0|.	-28.627|-28.627	15.7051|15.7051	0.77573|0.77573	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	262|.	Q9UGI8|.	TES_HUMAN|.	P|P	262;20;262;253|49	ENSP00000350937:H262P;ENSP00000441607:H20P;ENSP00000377121:H253P|.	ENSP00000257721:H262P|.	H|T	+|+	2|1	0|0	TES|TES	115679132|115679132	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.165000|9.165000	0.94761|0.94761	2.172000|2.172000	0.68678|0.68678	0.533000|0.533000	0.62120|0.62120	CAC|ACC		0.468	TES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059413.2	NM_015641		7	116	0	0	0	0.00245	0	7	116					C	115891896	A	C	115891896	3	2	355	1	0	0	0	0	1	0	0	0	15762	159	6	5	803	5	TES	7	115891896	Missense_Mutation	SNP	A	TCGA-ET-A25K-01A-11D-A16O-08		115891896	43246767	8	7515											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A25K-01A-11D-A16O-08	TCGA-ET-A25K-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207	030113e6-9473-4c38-8aaa-a0e3bd28c248	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		23	41	0	0	0	0.002299	0	23	41					T	140453136	A	T	140453136	3	4	355	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A25K-01A-11D-A16O-08	24561240	140453136	18685527	9	7516											
RABEP1	9135	broad.mit.edu	37	chr17	5253769	5253769	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatctcttggagcaagagCgacaacaacacaaccagtta	8	12	1	1			TCGA-ET-A25K-01A-11D-A16O-08	TCGA-ET-A25K-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207	030113e6-9473-4c38-8aaa-a0e3bd28c248	g.chr17:5253769C>T	ENST00000546142.2	+	7	995	c.808C>T	c.(808-810)Cga>Tga	p.R270*	RABEP1_ENST00000262477.6_Nonsense_Mutation_p.R270*|RABEP1_ENST00000341923.6_Nonsense_Mutation_p.R270*|RABEP1_ENST00000408982.2_Nonsense_Mutation_p.R270*|RABEP1_ENST00000537505.1_Nonsense_Mutation_p.R227*			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	270					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						GGAGCAAGAGCGACAACAACA	0.418																																						ENST00000262477.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(808-810)Cga>Tga		rabaptin, RAB GTPase binding effector protein 1							79	78	79					17																	5253769		1909	4135	6044	SO:0001587	stop_gained	9135				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	g.chr17:5253769C>T	AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.808C>T	17.37:g.5253769C>T	ENSP00000437701:p.Arg270*					RABEP1_ENST00000341923.6_Nonsense_Mutation_p.R270*|RABEP1_ENST00000546142.2_Nonsense_Mutation_p.R270*|RABEP1_ENST00000537505.1_Nonsense_Mutation_p.R227*|RABEP1_ENST00000408982.2_Nonsense_Mutation_p.R270*	p.R270*	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN			7	1032	+			270					B2RAG7|O95369|Q8IVX3	Nonsense_Mutation	SNP	ENST00000546142.2	37	c.808C>T	CCDS45592.1	.	.	.	.	.	.	.	.	.	.	C	38	7.060520	0.98036	.	.	ENSG00000029725	ENST00000262477;ENST00000408982;ENST00000539669;ENST00000546142;ENST00000341923;ENST00000537505	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-10.9027	13.54	0.61668	0.263:0.737:0.0:0.0	.	.	.	.	X	270;270;263;270;270;227	.	ENSP00000262477:R270X	R	+	1	2	RABEP1	5194493	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.940000	0.49003	2.850000	0.98022	0.650000	0.86243	CGA		0.418	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703		8	85	0	0	0	0.00308	0	8	85					T	5253769	C	T	5253769	4	4	355	1	0	0	0	0	0	1	0	0	12961	760	27	1	834	1	RABEP1	17	5253769	Nonsense_Mutation	SNP	C	TCGA-ET-A25K-01A-11D-A16O-08		5253769	75941441	10	7517											
ZNF709	163051	broad.mit.edu	37	chr19	12575380	12575380	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caactgaaggctttaccacaCtgtttacattcatagggttt	7	9	1	1			TCGA-ET-A25K-01A-11D-A16O-08	TCGA-ET-A25K-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207	030113e6-9473-4c38-8aaa-a0e3bd28c248	g.chr19:12575380C>T	ENST00000397732.3	-	4	1527	c.1356G>A	c.(1354-1356)caG>caA	p.Q452Q	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Silent_p.Q452Q	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	452					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						CTTTACCACACTGTTTACATT	0.403																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1354-1356)caG>caA		zinc finger protein 709							102	108	106					19																	12575380		2203	4296	6499	SO:0001819	synonymous_variant	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575380C>T	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"Zinc fingers, C2H2-type", "-"	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1356G>A	19.37:g.12575380C>T						ZNF709_ENST00000428311.1_Silent_p.Q452Q|CTD-3105H18.18_ENST00000598753.1_Intron	p.Q452Q	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1527	-			452					A8K4E6	Silent	SNP	ENST00000397732.3	37	c.1356G>A	CCDS42504.1																																																																																				0.403	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		4	159	0	0	0	0.000248	0	4	159					T	12575380	C	T	12575380	2	4	355	1	0	0	0	0	0	0	0	1	18110	564	20	2		2	ZNF709	19	12575380	Silent	SNP	C	TCGA-ET-A25K-01A-11D-A16O-08		12575380	46553603	11	7518											
ZNF512B	57473	broad.mit.edu	37	chr20	62592689	62592689	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggtcttcaggatgtggtaTttgacgccactctcagaact	11	9	3	2			TCGA-ET-A25K-01A-11D-A16O-08	TCGA-ET-A25K-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207	030113e6-9473-4c38-8aaa-a0e3bd28c248	g.chr20:62592689T>C	ENST00000450537.1	-	16	2460	c.2400A>G	c.(2398-2400)aaA>aaG	p.K800K	ZNF512B_ENST00000217130.3_Silent_p.K800K|ZNF512B_ENST00000369888.1_Silent_p.K800K			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	800					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)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GGATGTGGTATTTGACGCCAC	0.647																																						ENST00000450537.1																			0				NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33						c.(2398-2400)aaA>aaG		zinc finger protein 512B							104	90	95					20																	62592689		2203	4300	6503	SO:0001819	synonymous_variant	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62592689T>C	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.2400A>G	20.37:g.62592689T>C						ZNF512B_ENST00000217130.3_Silent_p.K800K|ZNF512B_ENST00000369888.1_Silent_p.K800K	p.K800K			Q96KM6	Z512B_HUMAN			16	2460	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		800					Q08AK9|Q9ULM4	Silent	SNP	ENST00000450537.1	37	c.2400A>G	CCDS13548.1																																																																																				0.647	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		3	56	0	0	0	0.004672	0	3	56					C	62592689	T	C	62592689	2	2	355	1	0	0	0	0	0	0	0	1	17954	1490	52	3		3	ZNF512B	20	62592689	Silent	SNP	T	TCGA-ET-A25K-01A-11D-A16O-08		62592689	432831	12	7519											
SPAG17	200162	broad.mit.edu	37	chr1	118644485	118644485	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggcttggcacttggagccTttttctccttgggagatttt	11	9	1	1			TCGA-ET-A25O-01A-11D-A17V-08	TCGA-ET-A25O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a02689-c17c-4178-bdc1-20962476fefe	931159d9-99d5-4c5b-9200-8b6aac91918f	g.chr1:118644485T>C	ENST00000336338.5	-	5	577	c.512A>G	c.(511-513)aAg>aGg	p.K171R		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	171	Lys-rich.					cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ACTTGGAGCCTTTTTCTCCTT	0.438																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(511-513)aAg>aGg		sperm associated antigen 17							207	191	196					1																	118644485		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118644485T>C		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.512A>G	1.37:g.118644485T>C	ENSP00000337804:p.Lys171Arg						p.K171R	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	5	577	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	171			Lys-rich.		Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.512A>G	CCDS899.1	.	.	.	.	.	.	.	.	.	.	T	10.63	1.403108	0.25291	.	.	ENSG00000155761	ENST00000336338	T	0.23754	1.89	5.39	4.18	0.49190	.	0.546163	0.18560	N	0.137643	T	0.25344	0.0616	L	0.42581	1.335	0.22500	N	0.999045	D	0.71674	0.998	D	0.66196	0.942	T	0.02698	-1.1122	10	0.56958	D	0.05	.	10.0216	0.42046	0.0:0.0:0.1691:0.8309	.	171	Q6Q759	SPG17_HUMAN	R	171	ENSP00000337804:K171R	ENSP00000337804:K171R	K	-	2	0	SPAG17	118446008	0.987000	0.35691	0.943000	0.38184	0.017000	0.09413	1.338000	0.33873	2.168000	0.68352	0.533000	0.62120	AAG		0.438	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		3	114	0	0	0	0.004672	0	3	114					C	118644485	T	C	118644485	3	2	356	1	0	0	0	0	1	0	0	0	14979	1609	56	3	6335	3	SPAG17	1	118644485	Missense_Mutation	SNP	T	TCGA-ET-A25O-01A-11D-A17V-08		118644485	130606136	1	7520											
NBEAL2	23218	broad.mit.edu	37	chr3	47030166	47030166	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttctgcctacagaaggaccTgggttacctgcagcagtggc	13	11	1	1			TCGA-ET-A25O-01A-11D-A17V-08	TCGA-ET-A25O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a02689-c17c-4178-bdc1-20962476fefe	931159d9-99d5-4c5b-9200-8b6aac91918f	g.chr3:47030166T>C	ENST00000450053.3	+	2	238	c.59T>C	c.(58-60)cTg>cCg	p.L20P	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.L20P	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	20					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CAGAAGGACCTGGGTTACCTG	0.562																																						ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(58-60)cTg>cCg		neurobeachin-like 2							101	102	101					3																	47030166		2043	4177	6220	SO:0001583	missense	23218						binding	g.chr3:47030166T>C	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.59T>C	3.37:g.47030166T>C	ENSP00000415034:p.Leu20Pro					NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.L20P	p.L20P	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	2	238	+		Acute lymphoblastic leukemia(5;0.0534)	20					O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	c.59T>C	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	T	14.29	2.491347	0.44249	.	.	ENSG00000160796	ENST00000292309;ENST00000450053;ENST00000296147	T;T	0.56275	0.47;0.48	4.17	3.01	0.34805	.	.	.	.	.	T	0.50956	0.1646	N	0.20685	0.6	0.80722	D	1	D;P	0.89917	1.0;0.895	D;P	0.74674	0.984;0.467	T	0.47774	-0.9091	9	0.44086	T	0.13	.	5.6593	0.17660	0.0:0.2162:0.0:0.7838	.	13;20	Q6ZNJ1-4;Q6ZNJ1	.;NBEL2_HUMAN	P	20;20;13	ENSP00000292309:L20P;ENSP00000415034:L20P	ENSP00000292309:L20P	L	+	2	0	NBEAL2	47005170	1.000000	0.71417	0.995000	0.50966	0.874000	0.50279	3.894000	0.56250	0.661000	0.30985	0.459000	0.35465	CTG		0.562	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		3	110	0	0	0	0.004672	0	3	110					C	47030166	T	C	47030166	3	2	356	1	0	0	0	0	1	0	0	0	10189	1580	55	3	65	3	NBEAL2	3	47030166	Missense_Mutation	SNP	T	TCGA-ET-A25O-01A-11D-A17V-08		47030166	150992264	2	7521											
SEC24D	9871	broad.mit.edu	37	chr4	119754779	119754779	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atccccatagtgcccataatGaggtggagaaaggcctattc	10	10	0	2			TCGA-ET-A25O-01A-11D-A17V-08	TCGA-ET-A25O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a02689-c17c-4178-bdc1-20962476fefe	931159d9-99d5-4c5b-9200-8b6aac91918f	g.chr4:119754779G>A	ENST00000280551.6	-	2	311	c.73C>T	c.(73-75)Cat>Tat	p.H25Y	SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000379735.5_Missense_Mutation_p.H25Y			O94855	SC24D_HUMAN	SEC24 family member D	25	Pro-rich.				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)|in utero embryonic development (GO:0001701)|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)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						TGCCCATAATGAGGTGGAGAA	0.443																																						ENST00000379735.5																			0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(73-75)Cat>Tat		SEC24 family member D							165	151	156					4																	119754779		2203	4300	6503	SO:0001583	missense	9871				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr4:119754779G>A	AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"SEC24 (S. cerevisiae) related gene family, member D", "SEC24 family, member D (S. cerevisiae)"			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.73C>T	4.37:g.119754779G>A	ENSP00000280551:p.His25Tyr					SEC24D_ENST00000280551.6_Missense_Mutation_p.H25Y|SEC24D_ENST00000419654.2_5'UTR	p.H25Y	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN			2	344	-			25			Pro-rich.		Q8IYI7	Missense_Mutation	SNP	ENST00000280551.6	37	c.73C>T	CCDS3710.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.096897	0.37048	.	.	ENSG00000150961	ENST00000280551;ENST00000379735;ENST00000503683	T;T;T	0.75938	-0.97;-0.98;0.82	6.02	4.29	0.51040	.	0.284754	0.40302	N	0.001122	T	0.58409	0.2120	L	0.27053	0.805	0.80722	D	1	B;B	0.22909	0.077;0.046	B;B	0.28011	0.085;0.039	T	0.50136	-0.8863	10	0.02654	T	1	-20.0949	12.0758	0.53643	0.0:0.0:0.6862:0.3138	.	25;25	O94855-2;O94855	.;SC24D_HUMAN	Y	25	ENSP00000280551:H25Y;ENSP00000369059:H25Y;ENSP00000426309:H25Y	ENSP00000280551:H25Y	H	-	1	0	SEC24D	119974227	0.999000	0.42202	0.607000	0.28956	0.914000	0.54420	2.845000	0.48254	0.856000	0.35383	0.650000	0.86243	CAT		0.443	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4			41	64	0	0	0	0.002222	0	41	64					A	119754779	G	A	119754779	3	1	356	1	0	0	0	0	1	0	0	0	13997	1290	45	2	3113	2	SEC24D	4	119754779	Missense_Mutation	SNP	G	TCGA-ET-A25O-01A-11D-A17V-08		119754779	71399497	3	7522											
OCLN	100506658	broad.mit.edu	37	chr5	68805542	68805542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcttctggatctctatatGgttcacaaatatatgccctc	6	10	4	0			TCGA-ET-A25O-01A-11D-A17V-08	TCGA-ET-A25O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a02689-c17c-4178-bdc1-20962476fefe	931159d9-99d5-4c5b-9200-8b6aac91918f	g.chr5:68805542G>A	ENST00000355237.2	+	3	1061	c.625G>A	c.(625-627)Ggt>Agt	p.G209S	OCLN_ENST00000380766.2_Missense_Mutation_p.G209S|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000538151.1_Intron|OCLN_ENST00000396442.2_Missense_Mutation_p.G209S	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	209	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				apoptotic process (GO:0006915)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|protein complex assembly (GO:0006461)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethionine metabolic process (GO:0046500)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|structural molecule activity (GO:0005198)|thiopurine S-methyltransferase activity (GO:0008119)			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		ATCTCTATATGGTTCACAAAT	0.423																																						ENST00000355237.2																			0				endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6						c.(625-627)Ggt>Agt		occludin							198	196	197					5																	68805542		2203	4300	6503	SO:0001583	missense	100506658				cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity	g.chr5:68805542G>A	U49184	CCDS4006.1, CCDS54864.1	5q13.1	2014-06-13			ENSG00000197822	ENSG00000197822			8104	protein-coding gene	gene with protein product	"tight junction protein occludin TM4 minus", "phosphatase 1, regulatory subunit 115"	602876				8601611	Standard	NM_002538		Approved	PPP1R115	uc003jwu.3	Q16625	OTTHUMG00000099356	ENST00000355237.2:c.625G>A	5.37:g.68805542G>A	ENSP00000347379:p.Gly209Ser					OCLN_ENST00000380766.2_Missense_Mutation_p.G209S|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000538151.1_Intron|OCLN_ENST00000396442.2_Missense_Mutation_p.G209S	p.G209S	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)	3	1061	+		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)	209			MARVEL.		B5BU70|D2DU64|D2DU65|D2IGC0|D2IGC1|E2CYV9|Q5U1V4|Q8N6K1	Missense_Mutation	SNP	ENST00000355237.2	37	c.625G>A	CCDS4006.1	.	.	.	.	.	.	.	.	.	.	G	6.806	0.517859	0.13005	.	.	ENSG00000197822	ENST00000355237;ENST00000396442;ENST00000380766	T;T;D	0.83591	0.38;0.38;-1.74	5.81	-5.24	0.02789	Marvel (1);MARVEL-like domain (1);	0.662498	0.17321	N	0.178506	T	0.57036	0.2026	N	0.05574	-0.02	0.42351	D	0.992377	B	0.09022	0.002	B	0.11329	0.006	T	0.32561	-0.9902	10	0.11182	T	0.66	-40.9608	8.5879	0.33668	0.2281:0.0:0.5977:0.1742	.	209	Q16625	OCLN_HUMAN	S	209	ENSP00000347379:G209S;ENSP00000379719:G209S;ENSP00000370143:G209S	ENSP00000347379:G209S	G	+	1	0	OCLN	68841298	0.001000	0.12720	0.131000	0.22000	0.759000	0.43091	0.073000	0.14640	-0.630000	0.05567	0.650000	0.86243	GGT		0.423	OCLN-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216794.1	NM_002538		76	97	0	0	0	0.00361	0	76	97					A	68805542	G	A	68805542	3	1	356	1	0	0	0	0	1	0	0	0	10820	1348	47	2	631	2	OCLN	5	68805542	Missense_Mutation	SNP	G	TCGA-ET-A25O-01A-11D-A17V-08		68805542	112109718	4	7523											
MAS1L	116511	broad.mit.edu	37	chr6	29454710	29454710	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgagagattccttcagccTtttctttctgaggctcccca	7	13	4	3			TCGA-ET-A25O-01A-11D-A17V-08	TCGA-ET-A25O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a02689-c17c-4178-bdc1-20962476fefe	931159d9-99d5-4c5b-9200-8b6aac91918f	g.chr6:29454710T>C	ENST00000377127.3	-	1	1028	c.970A>G	c.(970-972)Agg>Ggg	p.R324G		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	324					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R324G(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						TCCTTCAGCCTTTTCTTTCTG	0.463																																					NSCLC(153;755 1987 3859 11251 32945)	ENST00000377127.3																			1	Substitution - Missense(1)	p.R324G(1)	prostate(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						c.(970-972)Agg>Ggg		MAS1 oncogene-like							94	100	98					6																	29454710		2203	4300	6503	SO:0001583	missense	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29454710T>C	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"GPCR / Class A : Orphans"	13961	protein-coding gene	gene with protein product		607235	"MAS1 oncogene-like"				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.970A>G	6.37:g.29454710T>C	ENSP00000366331:p.Arg324Gly						p.R324G	NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN			1	1028	-			324					Q5SUN5	Missense_Mutation	SNP	ENST00000377127.3	37	c.970A>G	CCDS4661.1	.	.	.	.	.	.	.	.	.	.	T	7.400	0.632554	0.14322	.	.	ENSG00000204687	ENST00000377127	T	0.37584	1.19	2.36	-0.36	0.12568	.	.	.	.	.	T	0.14527	0.0351	L	0.39633	1.23	0.09310	N	1	B	0.29378	0.243	B	0.36845	0.234	T	0.38134	-0.9675	9	0.56958	D	0.05	.	8.1955	0.31394	0.0:0.0:0.4246:0.5754	.	324	P35410	MAS1L_HUMAN	G	324	ENSP00000366331:R324G	ENSP00000366331:R324G	R	-	1	2	MAS1L	29562689	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.995000	0.03712	-0.236000	0.09753	-0.612000	0.04053	AGG		0.463	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		3	126	0	0	0	0.004672	0	3	126					C	29454710	T	C	29454710	3	2	356	1	0	0	0	0	1	0	0	0	9321	1608	56	3	168	3	MAS1L	6	29454710	Missense_Mutation	SNP	T	TCGA-ET-A25O-01A-11D-A17V-08		29454710	141660357	5	7524											
PKHD1	5314	broad.mit.edu	37	chr6	51900420	51900420	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctttgcactgaattctgcttGaattgcttgtagcgacattg	9	8	1	2			TCGA-ET-A25O-01A-11D-A17V-08	TCGA-ET-A25O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a02689-c17c-4178-bdc1-20962476fefe	931159d9-99d5-4c5b-9200-8b6aac91918f	g.chr6:51900420G>A	ENST00000371117.3	-	28	3472	c.3197C>T	c.(3196-3198)tCa>tTa	p.S1066L	PKHD1_ENST00000340994.4_Missense_Mutation_p.S1066L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1066	IPT/TIG 5.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AATTCTGCTTGAATTGCTTGT	0.453																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(3196-3198)tCa>tTa		polycystic kidney and hepatic disease 1 (autosomal recessive)							147	133	138					6																	51900420		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51900420G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3197C>T	6.37:g.51900420G>A	ENSP00000360158:p.Ser1066Leu					PKHD1_ENST00000340994.4_Missense_Mutation_p.S1066L	p.S1066L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			28	3472	-	Lung NSC(77;0.0605)		1066			IPT/TIG 5.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.3197C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	9.636	1.137580	0.21123	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.80653	-1.4;-1.4	5.69	4.63	0.57726	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.372474	0.23165	N	0.051193	T	0.64918	0.2642	M	0.62723	1.935	0.09310	N	1	P;P	0.44429	0.802;0.835	B;B	0.40864	0.231;0.342	T	0.62798	-0.6778	10	0.11182	T	0.66	.	14.6306	0.68653	0.0821:0.0:0.9179:0.0	.	1066;1066	P08F94-2;P08F94	.;PKHD1_HUMAN	L	1066	ENSP00000360158:S1066L;ENSP00000341097:S1066L	ENSP00000341097:S1066L	S	-	2	0	PKHD1	52008379	1.000000	0.71417	0.545000	0.28153	0.283000	0.27025	4.821000	0.62679	2.690000	0.91761	0.650000	0.86243	TCA		0.453	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		43	47	0	0	0	0.003214	0	43	47					A	51900420	G	A	51900420	3	1	356	1	0	0	0	0	1	0	0	0	11971	1294	45	2	9226	2	PKHD1	6	51900420	Missense_Mutation	SNP	G	TCGA-ET-A25O-01A-11D-A17V-08	22445710	51900420	119214647	6	7525											
CACNA2D1	781	broad.mit.edu	37	chr7	81695842	81695843	+	Splice_Site	INS	-	-	A													tatcaacccatggtgaagctINSaaaaaaaaaaaaaaaagaga					rs370103843		TCGA-ET-A25O-01A-11D-A17V-08	TCGA-ET-A25O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a02689-c17c-4178-bdc1-20962476fefe	931159d9-99d5-4c5b-9200-8b6aac91918f	g.chr7:81695842_81695843insA	ENST00000356253.5	-	8	914		c.e8-2		CACNA2D1_ENST00000423588.1_Splice_Site|CACNA2D1_ENST00000356860.3_Splice_Site			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1						calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	ATGGTGAAGCTAAAAAAAAAAA	0.272																																						ENST00000356860.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.e8-2		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)																																			SO:0001630	splice_region_variant	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81695842_81695843insA	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.659-2->T	7.37:g.81695853_81695853dupA						CACNA2D1_ENST00000356253.5_Splice_Site|CACNA2D1_ENST00000423588.1_Splice_Site		NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			8	997	-								Q17R45|Q9UD80|Q9UD81|Q9UD82	Splice_Site	INS	ENST00000356253.5	37																																																																																						0.272	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding			Intron	8	24						8	24	---	---	---	---	A	81695843	-	A	81695842	8	5	356	1	0	1	1	0	0	0	1	0	2548	1536	53	0	2746	0	CACNA2D1	7	81695842	Splice_Site	INS	-	TCGA-ET-A25O-01A-11D-A17V-08		81695842	77442821	7	7526											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A25O-01A-11D-A17V-08	TCGA-ET-A25O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a02689-c17c-4178-bdc1-20962476fefe	931159d9-99d5-4c5b-9200-8b6aac91918f	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		15	20	0	0	0	0.00245	0	15	20					T	140453136	A	T	140453136	3	4	356	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A25O-01A-11D-A17V-08	58757294	140453136	18685527	8	7527											
LRIT1	26103	broad.mit.edu	37	chr10	85997395	85997395	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctggaggtgtccggggggAtggacgccgggggcagggtc	23	8	1	0			TCGA-ET-A25O-01A-11D-A17V-08	TCGA-ET-A25O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a02689-c17c-4178-bdc1-20962476fefe	931159d9-99d5-4c5b-9200-8b6aac91918f	g.chr10:85997395A>G	ENST00000372105.3	-	2	191	c.170T>C	c.(169-171)aTc>aCc	p.I57T		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	57	LRRNT.					integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GTCCGGGGGGATGGACGCCGG	0.667																																						ENST00000372105.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						c.(169-171)aTc>aCc		leucine-rich repeat, immunoglobulin-like and transmembrane domains 1							35	40	38					10																	85997395		2152	4185	6337	SO:0001583	missense	26103					integral to endoplasmic reticulum membrane		g.chr10:85997395A>G	AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	23404	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 9"		"leucine rich repeat containing 21"	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.170T>C	10.37:g.85997395A>G	ENSP00000361177:p.Ile57Thr						p.I57T	NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN			2	191	-			57			LRRNT.		Q0QD41|Q9Y4N7	Missense_Mutation	SNP	ENST00000372105.3	37	c.170T>C	CCDS7373.1	.	.	.	.	.	.	.	.	.	.	A	14.86	2.660654	0.47572	.	.	ENSG00000148602	ENST00000372105	T	0.40756	1.02	5.46	5.46	0.80206	Leucine-rich repeat-containing N-terminal (1);	0.434743	0.24443	N	0.038481	T	0.43897	0.1268	M	0.63843	1.955	0.44956	D	0.99797	B	0.33549	0.417	B	0.35182	0.197	T	0.47995	-0.9073	10	0.87932	D	0	.	13.0556	0.58977	1.0:0.0:0.0:0.0	.	57	Q9P2V4	LRIT1_HUMAN	T	57	ENSP00000361177:I57T	ENSP00000361177:I57T	I	-	2	0	LRIT1	85987375	1.000000	0.71417	0.147000	0.22382	0.487000	0.33371	8.888000	0.92464	2.079000	0.62486	0.533000	0.62120	ATC		0.667	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613		3	72	0	0	0	0.000248	0	3	72					G	85997395	A	G	85997395	3	3	356	1	0	0	0	0	1	0	0	0	8947	333	12	3	1713	3	LRIT1	10	85997395	Missense_Mutation	SNP	A	TCGA-ET-A25O-01A-11D-A17V-08		85997395	49537352	9	7528											
NOLC1	9221	broad.mit.edu	37	chr10	103921613	103921613	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaaagggcatcatccccAttccgaagggtcagggagga	13	9	2	0			TCGA-ET-A25O-01A-11D-A17V-08	TCGA-ET-A25O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a02689-c17c-4178-bdc1-20962476fefe	931159d9-99d5-4c5b-9200-8b6aac91918f	g.chr10:103921613A>T	ENST00000605788.1	+	12	2107	c.1872A>T	c.(1870-1872)ccA>ccT	p.P624P	NOLC1_ENST00000477977.1_3'UTR|NOLC1_ENST00000405356.1_Silent_p.P634P|NOLC1_ENST00000488254.2_Silent_p.P625P|NOLC1_ENST00000603742.1_Silent_p.P343P	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	624					cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		CATCATCCCCATTCCGAAGGG	0.473																																						ENST00000405356.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31						c.(1900-1902)ccA>ccT		nucleolar and coiled-body phosphoprotein 1							71	68	69					10																	103921613		2203	4300	6503	SO:0001819	synonymous_variant	9221				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	g.chr10:103921613A>T	Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.1872A>T	10.37:g.103921613A>T						NOLC1_ENST00000605788.1_Silent_p.P624P|NOLC1_ENST00000477977.1_3'UTR|NOLC1_ENST00000488254.2_Silent_p.P625P|NOLC1_ENST00000603742.1_Silent_p.P343P	p.P634P			Q14978	NOLC1_HUMAN		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)	12	2137	+		Colorectal(252;0.122)	624					Q15030|Q5VV70|Q9BUV3	Silent	SNP	ENST00000605788.1	37	c.1902A>T	CCDS7530.1																																																																																				0.473	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741		24	40	0	0	0	0.00333	0	24	40					T	103921613	A	T	103921613	2	4	356	1	0	0	0	0	0	0	0	1	10529	204	8	5		5	NOLC1	10	103921613	Silent	SNP	A	TCGA-ET-A25O-01A-11D-A17V-08	17924218	103921613	31613134	10	7529											
NINJ2	4815	broad.mit.edu	37	chr12	772557	772557	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaagtcccttcacacgcacCgggtgccgggaacagactgc	11	15	2	1			TCGA-ET-A25O-01A-11D-A17V-08	TCGA-ET-A25O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a02689-c17c-4178-bdc1-20962476fefe	931159d9-99d5-4c5b-9200-8b6aac91918f	g.chr12:772557C>A	ENST00000305108.4	-	1	388	c.108G>T	c.(106-108)ccG>ccT	p.P36P	RP11-218M22.1_ENST00000543884.1_RNA	NM_016533.4	NP_057617.2	Q9NZG7	NINJ2_HUMAN	ninjurin 2	0					nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|tissue regeneration (GO:0042246)	integral component of plasma membrane (GO:0005887)				large_intestine(3)|lung(1)|ovary(2)	6	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)			TCACACGCACCGGGTGCCGGG	0.597																																						ENST00000305108.4																			0				large_intestine(3)|lung(1)|ovary(2)	6						c.(106-108)ccG>ccT		ninjurin 2							111	116	114					12																	772557		2203	4300	6503	SO:0001819	synonymous_variant	4815				nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane		g.chr12:772557C>A	AF205633	CCDS8505.1, CCDS73418.1	12p13	2008-08-05			ENSG00000171840	ENSG00000171840			7825	protein-coding gene	gene with protein product		607297				10627596	Standard	XM_005253689		Approved		uc001qil.3	Q9NZG7	OTTHUMG00000090311	ENST00000305108.4:c.108G>T	12.37:g.772557C>A						RP11-218M22.1_ENST00000543884.1_RNA	p.P36P	NM_016533.4	NP_057617.2	Q9NZG7	NINJ2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)		1	388	-	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		0						Silent	SNP	ENST00000305108.4	37	c.108G>T	CCDS8505.1																																																																																				0.597	NINJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206673.2	NM_016533		5	194	1	0	0.00116845	0.001168	0.00878671	5	194					A	772557	C	A	772557	2	1	356	1	0	0	0	0	0	0	0	1	10419	639	23	4		4	NINJ2	12	772557	Silent	SNP	C	TCGA-ET-A25O-01A-11D-A17V-08		772557	133079338	11	7530											
MAN2C1	4123	broad.mit.edu	37	chr15	75660529	75660529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagccacagggcagctggCcccaaaaagcctgcgtggga	13	14	0	0			TCGA-ET-A25O-01A-11D-A17V-08	TCGA-ET-A25O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a02689-c17c-4178-bdc1-20962476fefe	931159d9-99d5-4c5b-9200-8b6aac91918f	g.chr15:75660529C>T	ENST00000267978.5	-	2	158	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	MAN2C1_ENST00000565683.1_Missense_Mutation_p.A38T|MAN2C1_ENST00000563539.1_5'UTR|MAN2C1_ENST00000563622.1_Missense_Mutation_p.A38T|RP11-817O13.8_ENST00000563278.1_lincRNA|MAN2C1_ENST00000569482.1_Missense_Mutation_p.A38T	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	38					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						GGGCAGCTGGCCCCAAAAAGC	0.711																																						ENST00000565683.1																			0				central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(112-114)Gcc>Acc		mannosidase, alpha, class 2C, member 1							8	10	10					15																	75660529		2105	4152	6257	SO:0001583	missense	4123				mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	g.chr15:75660529C>T	AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.112G>A	15.37:g.75660529C>T	ENSP00000267978:p.Ala38Thr					MAN2C1_ENST00000267978.5_Missense_Mutation_p.A38T|MAN2C1_ENST00000569482.1_Missense_Mutation_p.A38T|MAN2C1_ENST00000563539.1_5'UTR|RP11-817O13.8_ENST00000563278.1_lincRNA|MAN2C1_ENST00000563622.1_Missense_Mutation_p.A38T	p.A38T	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN			2	123	-			38					H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	ENST00000267978.5	37	c.112G>A	CCDS32298.1	.	.	.	.	.	.	.	.	.	.	C	9.229	1.035264	0.19590	.	.	ENSG00000140400	ENST00000267978;ENST00000421803	T	0.18174	2.23	5.1	3.14	0.36123	.	0.410909	0.24988	N	0.034014	T	0.11281	0.0275	L	0.31578	0.945	0.24941	N	0.991855	B;B;B	0.21753	0.06;0.06;0.06	B;B;B	0.22601	0.04;0.018;0.018	T	0.34079	-0.9843	10	0.14252	T	0.57	-5.3625	9.7064	0.40218	0.1596:0.6865:0.1539:0.0	.	38;38;38	B4DH23;Q68EM8;Q9NTJ4	.;.;MA2C1_HUMAN	T	38	ENSP00000267978:A38T	ENSP00000267978:A38T	A	-	1	0	MAN2C1	73447582	1.000000	0.71417	0.967000	0.41034	0.106000	0.19336	4.863000	0.62983	0.492000	0.27815	0.484000	0.47621	GCC		0.711	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			5	8	0	0	0	0.000602	0	5	8					T	75660529	C	T	75660529	3	4	356	1	0	0	0	0	1	0	0	0	9218	739	26	2	3110	2	MAN2C1	15	75660529	Missense_Mutation	SNP	C	TCGA-ET-A25O-01A-11D-A17V-08		75660529	26870863	12	7531											
LRRC37A2	474170	broad.mit.edu	37	chr17	44626432	44626432	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaataccgctttcacaaAactcgctcccacgtgaccca	4	15	1	1			TCGA-ET-A25O-01A-11D-A17V-08	TCGA-ET-A25O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a02689-c17c-4178-bdc1-20962476fefe	931159d9-99d5-4c5b-9200-8b6aac91918f	g.chr17:44626432A>C	ENST00000576629.1	+	10	4422	c.3927A>C	c.(3925-3927)aaA>aaC	p.K1309N	LRRC37A2_ENST00000333412.3_Missense_Mutation_p.K1309N|ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000573185.1_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1309						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		GCTTTCACAAAACTCGCTCCC	0.428																																						ENST00000576629.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15						c.(3925-3927)aaA>aaC		leucine rich repeat containing 37, member A2							143	243	209					17																	44626432		2184	4296	6480	SO:0001583	missense	474170					integral to membrane		g.chr17:44626432A>C	AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"c114 SLIT-like testicular protein"						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.3927A>C	17.37:g.44626432A>C	ENSP00000459551:p.Lys1309Asn					ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000573185.1_Intron|LRRC37A2_ENST00000333412.3_Missense_Mutation_p.K1309N|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000329240.4_Intron	p.K1309N			A6NM11	L37A2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.232)	10	4422	+		Melanoma(429;0.211)	1309					B7ZMC3	Missense_Mutation	SNP	ENST00000576629.1	37	c.3927A>C	CCDS42353.1	.	.	.	.	.	.	.	.	.	.	a	11.77	1.736711	0.30774	.	.	ENSG00000238083	ENST00000333412	T	0.60920	0.15	2.35	1.25	0.21368	.	.	.	.	.	T	0.60314	0.2259	L	0.40543	1.245	0.09310	N	1	D;P;P	0.57899	0.981;0.865;0.779	D;P;B	0.67231	0.95;0.615;0.311	T	0.46721	-0.9171	9	0.72032	D	0.01	.	3.6001	0.08021	0.7951:0.0:0.2049:0.0	.	1309;270;1309	C9JSP5;B3KRJ4;A6NM11	.;.;L37A2_HUMAN	N	1309	ENSP00000333071:K1309N	ENSP00000333071:K1309N	K	+	3	2	LRRC37A2	41981748	0.000000	0.05858	0.015000	0.15790	0.017000	0.09413	0.488000	0.22371	1.090000	0.41315	0.147000	0.16070	AAA		0.428	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440299.2	NM_001006607		68	243	0	0	0	0.00361	0	68	243					C	44626432	A	C	44626432	3	2	356	1	0	0	0	0	1	0	0	0	8992	11	1	5	3961	5	LRRC37A2	17	44626432	Missense_Mutation	SNP	A	TCGA-ET-A25O-01A-11D-A17V-08		44626432	36568778	13	7532											
CCDC30	728621	broad.mit.edu	37	chr1	43047065	43047065	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggaaattagaacatgctcAtaaagtctgtctcacagaca	8	9	3	2			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr1:43047065A>G	ENST00000340612.4	+	7	1100	c.1100A>G	c.(1099-1101)cAt>cGt	p.H367R	CCDC30_ENST00000342022.4_Missense_Mutation_p.H367R|CCDC30_ENST00000428554.2_Missense_Mutation_p.H367R|CCDC30_ENST00000507855.1_Missense_Mutation_p.H156R|CCDC30_ENST00000390640.4_Missense_Mutation_p.H156R			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	367						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GAACATGCTCATAAAGTCTGT	0.348																																						ENST00000428554.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						c.(1099-1101)cAt>cGt		coiled-coil domain containing 30							93	95	94					1																	43047065		2203	4300	6503	SO:0001583	missense	728621							g.chr1:43047065A>G	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"prefoldin 6-like"					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1100A>G	1.37:g.43047065A>G	ENSP00000340378:p.His367Arg					CCDC30_ENST00000507855.1_Missense_Mutation_p.H156R|CCDC30_ENST00000390640.4_Missense_Mutation_p.H156R|CCDC30_ENST00000342022.4_Missense_Mutation_p.H367R|CCDC30_ENST00000340612.4_Missense_Mutation_p.H367R	p.H367R			Q5VVM6	CCD30_HUMAN			15	2243	+			367					Q14F06|Q5VVM5	Missense_Mutation	SNP	ENST00000340612.4	37	c.1100A>G	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	A	9.623	1.134253	0.21123	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	T;T;T;T;T	0.48522	0.81;0.83;0.81;0.81;0.83	5.65	0.976	0.19727	.	0.550040	0.19977	N	0.101853	T	0.22859	0.0552	N	0.16656	0.425	0.09310	N	1	B;B;B	0.12013	0.002;0.0;0.005	B;B;B	0.06405	0.001;0.001;0.002	T	0.13548	-1.0505	10	0.13853	T	0.58	.	4.0457	0.09771	0.6202:0.0:0.2323:0.1475	.	367;151;156	Q5VVM6;Q6N081;Q5VVM6-2	CCD30_HUMAN;.;.	R	367;156;367;367;156	ENSP00000397035:H367R;ENSP00000426711:H156R;ENSP00000340378:H367R;ENSP00000339280:H367R;ENSP00000375051:H156R	ENSP00000340378:H367R	H	+	2	0	CCDC30	42819652	0.333000	0.24731	0.029000	0.17559	0.956000	0.61745	1.096000	0.30976	0.289000	0.22422	0.528000	0.53228	CAT		0.348	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030		6	88	0	0	0	0.021553	0	6	88					G	43047065	A	G	43047065	3	3	357	1	0	0	0	0	1	0	0	0	2805	217	8	3	1126	3	CCDC30	1	43047065	Missense_Mutation	SNP	A	TCGA-ET-A25R-01A-11D-A17V-08		43047065	206203556	1	7533											
ANKRD35	148741	broad.mit.edu	37	chr1	145561416	145561416	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccggcctggaggggatggCatggagcagggttgtcctaa	17	9	0	0			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr1:145561416C>T	ENST00000355594.4	+	10	1191	c.1104C>T	c.(1102-1104)ggC>ggT	p.G368G		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	368										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GAGGGGATGGCATGGAGCAGG	0.567																																					Melanoma(9;127 754 22988 51047)	ENST00000355594.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47						c.(1102-1104)ggC>ggT		ankyrin repeat domain 35							37	38	38					1																	145561416		2203	4300	6503	SO:0001819	synonymous_variant	148741							g.chr1:145561416C>T	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"Ankyrin repeat domain containing"	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.1104C>T	1.37:g.145561416C>T							p.G368G	NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN			10	1191	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		368					A6NEU0|B4DL62|Q3MJ10|Q96LS3	Silent	SNP	ENST00000355594.4	37	c.1104C>T	CCDS919.1																																																																																				0.567	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		17	19	0	0	0	0.0333	0	17	19					T	145561416	C	T	145561416	2	4	357	1	0	0	0	0	0	0	0	1	664	697	25	2		2	ANKRD35	1	145561416	Silent	SNP	C	TCGA-ET-A25R-01A-11D-A17V-08	102514351	145561416	103689205	2	7534											
TMCC1	23023	broad.mit.edu	37	chr3	129389296	129389296	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggatctcctggatctcatgtAgtagtgcatcaaatcctgag	10	9	3	1			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr3:129389296A>T	ENST00000393238.3	-	4	1728	c.1388T>A	c.(1387-1389)cTa>cAa	p.L463Q	TMCC1_ENST00000432054.2_Missense_Mutation_p.L139Q|TMCC1_ENST00000329333.5_Missense_Mutation_p.L284Q|TMCC1_ENST00000426664.2_Missense_Mutation_p.L349Q	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	463						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GATCTCATGTAGTAGTGCATC	0.502																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(1387-1389)cTa>cAa		transmembrane and coiled-coil domain family 1							115	111	112					3																	129389296		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129389296A>T	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"Transmembrane and coiled-coil domain containing"	29116	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 1"			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1388T>A	3.37:g.129389296A>T	ENSP00000376930:p.Leu463Gln					TMCC1_ENST00000432054.2_Missense_Mutation_p.L139Q|TMCC1_ENST00000329333.5_Missense_Mutation_p.L284Q|TMCC1_ENST00000426664.2_Missense_Mutation_p.L349Q	p.L463Q	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			4	1728	-			463					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.1388T>A	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.087192	0.76642	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.66046	0.2750	M	0.76170	2.325	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.992;0.999	T	0.63296	-0.6669	10	0.13108	T	0.6	-16.0413	15.6252	0.76851	1.0:0.0:0.0:0.0	.	284;463	B4DE04;O94876	.;TMCC1_HUMAN	Q	139;463;349;284	ENSP00000404711:L139Q;ENSP00000376930:L463Q;ENSP00000389892:L349Q;ENSP00000327349:L284Q	ENSP00000327349:L284Q	L	-	2	0	TMCC1	130871986	1.000000	0.71417	0.961000	0.40146	0.998000	0.95712	9.227000	0.95236	2.155000	0.67459	0.482000	0.46254	CTA		0.502	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		9	122	0	0	0	0.047766	0	9	122					T	129389296	A	T	129389296	3	4	357	1	0	0	0	0	1	0	0	0	15989	420	15	5	585	5	TMCC1	3	129389296	Missense_Mutation	SNP	A	TCGA-ET-A25R-01A-11D-A17V-08		129389296	68633134	3	7535											
ADH7	131	broad.mit.edu	37	chr4	100341811	100341811	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgatacactcagtggcacctAcagccatggccttctcaaat	7	13	2	1			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr4:100341811A>T	ENST00000209665.4	-	6	980	c.740T>A	c.(739-741)gTa>gAa	p.V247E	ADH7_ENST00000476959.1_Missense_Mutation_p.V255E|ADH7_ENST00000437033.2_Missense_Mutation_p.V235E|ADH7_ENST00000482593.1_Missense_Mutation_p.V178E	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	247					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		AGTGGCACCTACAGCCATGGC	0.488																																						ENST00000437033.2																			0				breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19						c.(703-705)gTa>gAa		alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	NADH(DB00157)						179	148	159					4																	100341811		2203	4300	6503	SO:0001583	missense	131				ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity	g.chr4:100341811A>T	X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"Alcohol dehydrogenases"	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.740T>A	4.37:g.100341811A>T	ENSP00000209665:p.Val247Glu					ADH7_ENST00000482593.1_Missense_Mutation_p.V178E|ADH7_ENST00000476959.1_Missense_Mutation_p.V255E|ADH7_ENST00000209665.4_Missense_Mutation_p.V247E	p.V235E			P40394	ADH7_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	6	1207	-			247					A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Missense_Mutation	SNP	ENST00000209665.4	37	c.704T>A	CCDS34034.1	.	.	.	.	.	.	.	.	.	.	A	14.99	2.698898	0.48307	.	.	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000482593;ENST00000476959	T;T;T;T	0.04317	3.65;3.65;3.65;3.65	3.8	3.8	0.43715	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.421442	0.23894	N	0.043502	T	0.18509	0.0444	M	0.72118	2.19	0.09310	N	0.999994	D	0.55800	0.973	D	0.70016	0.967	T	0.01015	-1.1480	10	0.87932	D	0	-37.7323	12.722	0.57147	1.0:0.0:0.0:0.0	.	247	P40394	ADH7_HUMAN	E	235;247;178;255	ENSP00000414254:V235E;ENSP00000209665:V247E;ENSP00000420613:V178E;ENSP00000420269:V255E	ENSP00000209665:V247E	V	-	2	0	ADH7	100560834	0.479000	0.25925	0.002000	0.10522	0.348000	0.29142	5.261000	0.65496	1.576000	0.49790	0.460000	0.39030	GTA		0.488	ADH7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000673		19	27	0	0	0	0.055883	0	19	27					T	100341811	A	T	100341811	3	4	357	1	0	0	0	0	1	0	0	0	313	391	14	5	436	5	ADH7	4	100341811	Missense_Mutation	SNP	A	TCGA-ET-A25R-01A-11D-A17V-08		100341811	90812465	4	7536											
WDR17	116966	broad.mit.edu	37	chr4	177095771	177095771	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatatattctcttttagagcTcgaaatgagttgctgatatt	7	5	1	3			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr4:177095771T>C	ENST00000280190.4	+	28	3624	c.3468T>C	c.(3466-3468)gcT>gcC	p.A1156A	WDR17_ENST00000507824.2_Silent_p.A1131A|WDR17_ENST00000393643.2_Silent_p.A1132A|WDR17_ENST00000508596.1_Silent_p.A1117A			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1156										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CTTTTAGAGCTCGAAATGAGT	0.333																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(3394-3396)gcT>gcC		WD repeat domain 17							103	99	101					4																	177095771		2203	4300	6503	SO:0001819	synonymous_variant	116966							g.chr4:177095771T>C	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"WD repeat domain containing"	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.3468T>C	4.37:g.177095771T>C						WDR17_ENST00000280190.4_Silent_p.A1156A|WDR17_ENST00000507824.2_Silent_p.A1131A|WDR17_ENST00000508596.1_Silent_p.A1117A	p.A1132A	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	27	3648	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	1156					E7EQX0|Q0QD35	Silent	SNP	ENST00000280190.4	37	c.3396T>C	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	T	9.024	0.985723	0.18889	.	.	ENSG00000150627	ENST00000443118	.	.	.	5.14	-6.11	0.02131	.	.	.	.	.	T	0.39600	0.1084	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46062	-0.9218	4	.	.	.	-21.7067	4.4273	0.11509	0.0921:0.1302:0.4328:0.3449	.	.	.	.	P	391	.	.	S	+	1	0	WDR17	177332765	0.004000	0.15560	0.982000	0.44146	0.819000	0.46315	-1.276000	0.02815	-0.533000	0.06323	-0.342000	0.07992	TCG		0.333	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			10	41	0	0	0	0.069234	0	10	41					C	177095771	T	C	177095771	2	2	357	1	0	0	0	0	0	0	0	1	17274	1538	54	3		3	WDR17	4	177095771	Silent	SNP	T	TCGA-ET-A25R-01A-11D-A17V-08	76753960	177095771	14058505	5	7537											
FAT1	2195	broad.mit.edu	37	chr4	187628248	187628248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctagtgatactttcacaaCgacagtggagaacagctgag	10	8	2	3	rs200097846		TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr4:187628248C>T	ENST00000441802.2	-	2	2943	c.2734G>A	c.(2734-2736)Gtt>Att	p.V912I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	912	Cadherin 7. {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						ACTTTCACAACGACAGTGGAG	0.488										HNSCC(5;0.00058)			C|||	1	0.000199681	0	0	5008	,	,		21992	0		0.001	False		,,,				2504	0				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.(2734-2736)Gtt>Att		FAT atypical cadherin 1		C	ILE/VAL	0,3946		0,0,1973	179	175	176		2734	2.0	0.0	4		176	4,8338		0,4,4167	yes	missense	FAT1	NM_005245.3	29	0,4,6140	TT,TC,CC		0.048,0.0,0.0326	benign	912/4589	187628248	4,12284	1973	4171	6144	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.chr4:187628248C>T	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.2734G>A	4.37:g.187628248C>T	ENSP00000406229:p.Val912Ile	HNSCC(5;0.00058)					p.V912I	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			2	2943	-			912			Cadherin 7.			Missense_Mutation	SNP	ENST00000441802.2	37	c.2734G>A	CCDS47177.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.005	-2.219767	0.00286	0.0	4.8E-4	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.52526	0.66	4.67	1.97	0.26223	Cadherin (5);Cadherin-like (1);	0.363695	0.27896	N	0.017416	T	0.26702	0.0653	N	0.21324	0.655	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.11867	-1.0570	10	0.24483	T	0.36	.	4.5886	0.12295	0.0738:0.1238:0.411:0.3914	.	912	Q14517	FAT1_HUMAN	I	912	ENSP00000406229:V912I	ENSP00000260147:V912I	V	-	1	0	FAT1	187865242	0.179000	0.23135	0.002000	0.10522	0.011000	0.07611	0.714000	0.25808	0.285000	0.22329	-1.472000	0.01007	GTT		0.488	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		16	222	0	0	0	0.024245	0	16	222					T	187628248	C	T	187628248	3	4	357	1	0	0	0	0	1	0	0	0	5689	536	19	1	11136	1	FAT1	4	187628248	Missense_Mutation	SNP	C	TCGA-ET-A25R-01A-11D-A17V-08	10532477	187628248	3526028	6	7538											
GPR98	84059	broad.mit.edu	37	chr5	89979771	89979771	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaggcctcatgggaaaagtCcttgtctcatatgcaacact	8	10	2	0			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr5:89979771C>T	ENST00000405460.2	+	28	6129	c.6033C>T	c.(6031-6033)gtC>gtT	p.V2011V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2011	Calx-beta 14. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGGAAAAGTCCTTGTCTCAT	0.378																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(6031-6033)gtC>gtT		G protein-coupled receptor 98							65	61	62					5																	89979771		1865	4096	5961	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89979771C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.6033C>T	5.37:g.89979771C>T							p.V2011V	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	28	6129	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2011					O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.6033C>T	CCDS47246.1																																																																																				0.378	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		3	30	0	0	0	0.004672	0	3	30					T	89979771	C	T	89979771	2	4	357	1	0	0	0	0	0	0	0	1	6721	842	30	2		2	GPR98	5	89979771	Silent	SNP	C	TCGA-ET-A25R-01A-11D-A17V-08		89979771	90935489	7	7539											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		18	32	0	0	0	0.0333	0	18	32					T	140453136	A	T	140453136	3	4	357	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A25R-01A-11D-A17V-08		140453136	18685527	8	7540											
PRSS55	203074	broad.mit.edu	37	chr8	10387076	10387076	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attccagaatcacaggggggAtggaggcggaggtgggtgag	20	5	1	2			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr8:10387076A>G	ENST00000328655.3	+	2	254	c.214A>G	c.(214-216)Atg>Gtg	p.M72V	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.M72V	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	72	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						CACAGGGGGGATGGAGGCGGA	0.507																																						ENST00000328655.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						c.(214-216)Atg>Gtg		protease, serine, 55							211	209	209					8																	10387076		2203	4300	6503	SO:0001583	missense	203074				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr8:10387076A>G	AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"Serine peptidases / Serine peptidases"	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.214A>G	8.37:g.10387076A>G	ENSP00000333003:p.Met72Val					PRSS55_ENST00000522210.1_Missense_Mutation_p.M72V|PRSS51_ENST00000523024.1_RNA	p.M72V	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN			2	254	+			72			Peptidase S1.		E5RJX5	Missense_Mutation	SNP	ENST00000328655.3	37	c.214A>G	CCDS5976.1	.	.	.	.	.	.	.	.	.	.	A	0.008	-1.894741	0.00522	.	.	ENSG00000184647	ENST00000328655;ENST00000522210	D;D	0.88124	-2.34;-2.34	3.96	-3.68	0.04463	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.60366	0.2263	N	0.01122	-1.005	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.52675	-0.8544	9	0.27082	T	0.32	.	5.6072	0.17387	0.2951:0.477:0.2278:0.0	.	72	Q6UWB4	PRS55_HUMAN	V	72	ENSP00000333003:M72V;ENSP00000430459:M72V	ENSP00000333003:M72V	M	+	1	0	PRSS55	10424486	0.000000	0.05858	0.002000	0.10522	0.014000	0.08584	-0.150000	0.10189	-0.654000	0.05394	-1.556000	0.00890	ATG		0.507	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464		4	306	0	0	0	0.014758	0	4	306					G	10387076	A	G	10387076	3	3	357	1	0	0	0	0	1	0	0	0	12634	333	12	3	220	3	PRSS55	8	10387076	Missense_Mutation	SNP	A	TCGA-ET-A25R-01A-11D-A17V-08		10387076	135976946	9	7541											
ITGA8	8516	broad.mit.edu	37	chr10	15646258	15646258	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctcttctggtatcattacAaagagttcagcttcatatgc	7	10	5	1			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr10:15646258A>G	ENST00000378076.3	-	20	2420	c.2067T>C	c.(2065-2067)ttT>ttC	p.F689F	ITGA8_ENST00000477064.1_5'UTR	NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	689					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GTATCATTACAAAGAGTTCAG	0.368																																						ENST00000378076.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						c.(2065-2067)ttT>ttC		integrin, alpha 8							228	184	199					10																	15646258		2203	4300	6503	SO:0001819	synonymous_variant	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15646258A>G	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2067T>C	10.37:g.15646258A>G						ITGA8_ENST00000477064.1_5'UTR	p.F689F	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN			20	2420	-			689					B0YJ31|Q5VX94	Silent	SNP	ENST00000378076.3	37	c.2067T>C	CCDS31155.1																																																																																				0.368	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		27	31	0	0	0	0.108266	0	27	31					G	15646258	A	G	15646258	2	3	357	1	0	0	0	0	0	0	0	1	7882	127	5	3		3	ITGA8	10	15646258	Silent	SNP	A	TCGA-ET-A25R-01A-11D-A17V-08		15646258	119888489	10	7542											
UBQLN3	50613	broad.mit.edu	37	chr11	5530349	5530349	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggtcagggaagccacgaTaggccaagcccagcctactg	13	13	1	0	rs202005672		TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr11:5530349T>C	ENST00000311659.4	-	2	587	c.440A>G	c.(439-441)tAt>tGt	p.Y147C	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	147										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGCCACGATAGGCCAAGCC	0.587																																					Ovarian(72;684 1260 12332 41642 52180)	ENST00000311659.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(439-441)tAt>tGt		ubiquilin 3							45	42	43					11																	5530349		2201	4297	6498	SO:0001583	missense	50613							g.chr11:5530349T>C	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"Ubiquilin family"	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.440A>G	11.37:g.5530349T>C	ENSP00000347997:p.Tyr147Cys					HBG2_ENST00000380259.2_Intron	p.Y147C	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	587	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	147					Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	c.440A>G	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	T	3.227	-0.158354	0.06544	.	.	ENSG00000175520	ENST00000311659;ENST00000445998	T;T	0.52754	1.22;0.65	5.59	3.71	0.42584	.	0.501099	0.16862	N	0.196492	T	0.24353	0.0590	N	0.03608	-0.345	0.21697	N	0.999583	B	0.02656	0.0	B	0.04013	0.001	T	0.17623	-1.0363	10	0.54805	T	0.06	-2.1492	9.1298	0.36839	0.0777:0.0:0.7739:0.1484	.	147	Q9H347	UBQL3_HUMAN	C	147	ENSP00000347997:Y147C;ENSP00000412561:Y147C	ENSP00000347997:Y147C	Y	-	2	0	UBQLN3	5486925	1.000000	0.71417	0.002000	0.10522	0.001000	0.01503	6.594000	0.74104	0.832000	0.34804	-0.261000	0.10672	TAT		0.587	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		3	63	0	0	0	0.004672	0	3	63					C	5530349	T	C	5530349	3	2	357	1	0	0	0	0	1	0	0	0	16895	1406	49	3	1531	3	UBQLN3	11	5530349	Missense_Mutation	SNP	T	TCGA-ET-A25R-01A-11D-A17V-08		5530349	129476167	11	7543											
MESP1	55897	broad.mit.edu	37	chr15	90293428	90293428	+	Missense_Mutation	SNP	C	C	T													cgagaggggcatccaggtctCcaacagagccagcacgtcgc							TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr15:90293428C>T	ENST00000300057.4	-	2	832	c.754G>A	c.(754-756)Gag>Aag	p.E252K	MESP1_ENST00000559894.1_5'UTR	NM_018670.3	NP_061140.1	Q9BRJ9	MESP1_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 1	252					cardiac atrium formation (GO:0003210)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell differentiation (GO:0055007)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cardiac ventricle formation (GO:0003211)|cardioblast anterior-lateral migration (GO:0003259)|cardioblast migration to the midline involved in heart field formation (GO:0060975)|embryonic heart tube morphogenesis (GO:0003143)|endothelial cell differentiation (GO:0045446)|gastrulation (GO:0007369)|growth involved in heart morphogenesis (GO:0003241)|heart looping (GO:0001947)|lateral mesoderm development (GO:0048368)|mesodermal cell migration (GO:0008078)|negative regulation of endodermal cell fate specification (GO:0042664)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of transcription, DNA-templated (GO:0045892)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|positive regulation of hepatocyte differentiation (GO:0070368)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of Notch signaling pathway involved in heart induction (GO:0035481)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|secondary heart field specification (GO:0003139)|signal transduction involved in regulation of gene expression (GO:0023019)|sinoatrial node cell differentiation (GO:0060921)|sinus venosus morphogenesis (GO:0003236)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|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 transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|kidney(1)	2	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			ATCCAGGTCTCCAACAGAGCC	0.647																																						ENST00000300057.4																			0				NS(1)|kidney(1)	2						c.(754-756)Gag>Aag		mesoderm posterior 1 homolog (mouse)							76	77	76					15																	90293428		2200	4299	6499	SO:0001583	missense	55897				cardiac atrium formation|cardiac cell fate determination|cardiac vascular smooth muscle cell differentiation|cardiac ventricle formation|cardioblast anterior-lateral migration|cardioblast migration to the midline involved in heart field formation|endothelial cell differentiation|gastrulation|growth involved in heart morphogenesis|heart looping|lateral mesoderm development|negative regulation of endodermal cell fate specification|negative regulation of mesodermal cell fate specification|negative regulation of transcription, DNA-dependent|neurogenesis|Notch signaling pathway|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|positive regulation of hepatocyte differentiation|positive regulation of Notch signaling pathway|positive regulation of striated muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|secondary heart field specification|sinoatrial node cell differentiation|sinus venosus morphogenesis		sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr15:90293428C>T		CCDS10355.1	15q26.1	2014-06-30	2014-06-30		ENSG00000166823	ENSG00000166823		"Basic helix-loop-helix proteins"	29658	protein-coding gene	gene with protein product		608689	"mesoderm posterior 1 homolog (mouse)"			8787751, 11578861	Standard	NM_018670		Approved	MGC10676, bHLHc5	uc002bol.3	Q9BRJ9	OTTHUMG00000149810	ENST00000300057.4:c.754G>A	15.37:g.90293428C>T	ENSP00000300057:p.Glu252Lys					MESP1_ENST00000559894.1_5'UTR	p.E252K	NM_018670.3	NP_061140.1	Q9BRJ9	MESP1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)		2	832	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		252					Q9NSF1|Q9NSF2	Missense_Mutation	SNP	ENST00000300057.4	37	c.754G>A	CCDS10355.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.445052	0.63178	.	.	ENSG00000166823	ENST00000300057	D	0.83673	-1.75	4.18	3.26	0.37387	.	.	.	.	.	D	0.85177	0.5637	L	0.56769	1.78	0.33518	D	0.592	D	0.61080	0.989	P	0.57720	0.826	D	0.86891	0.2048	9	0.62326	D	0.03	0.7397	7.6083	0.28115	0.0:0.8826:0.0:0.1174	.	252	Q9BRJ9	MESP1_HUMAN	K	252	ENSP00000300057:E252K	ENSP00000300057:E252K	E	-	1	0	MESP1	88094432	0.907000	0.30839	0.988000	0.46212	0.322000	0.28314	0.543000	0.23237	0.969000	0.38237	0.393000	0.25936	GAG		0.647	MESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313421.1	NM_018670		6	113	0	0	0	0.021553	0	6	113					T	90293428	C	T	90293428	3	4	357	1	0	0	0	0	1	0	0	0	9482	864	30	2	56	2	MESP1	15	90293428	Missense_Mutation	SNP	C	TCGA-ET-A25R-01A-11D-A17V-08		90293428	12237964	12	7544	44	2									
MESP1	55897	broad.mit.edu	37	chr15	90293429	90293429	+	Silent	SNP	C	C	T													gagaggggcatccaggtctcCaacagagccagcacgtcgcc					rs373208803		TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr15:90293429C>T	ENST00000300057.4	-	2	831	c.753G>A	c.(751-753)ttG>ttA	p.L251L	MESP1_ENST00000559894.1_5'UTR	NM_018670.3	NP_061140.1	Q9BRJ9	MESP1_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 1	251					cardiac atrium formation (GO:0003210)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell differentiation (GO:0055007)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cardiac ventricle formation (GO:0003211)|cardioblast anterior-lateral migration (GO:0003259)|cardioblast migration to the midline involved in heart field formation (GO:0060975)|embryonic heart tube morphogenesis (GO:0003143)|endothelial cell differentiation (GO:0045446)|gastrulation (GO:0007369)|growth involved in heart morphogenesis (GO:0003241)|heart looping (GO:0001947)|lateral mesoderm development (GO:0048368)|mesodermal cell migration (GO:0008078)|negative regulation of endodermal cell fate specification (GO:0042664)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of transcription, DNA-templated (GO:0045892)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|positive regulation of hepatocyte differentiation (GO:0070368)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of Notch signaling pathway involved in heart induction (GO:0035481)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|secondary heart field specification (GO:0003139)|signal transduction involved in regulation of gene expression (GO:0023019)|sinoatrial node cell differentiation (GO:0060921)|sinus venosus morphogenesis (GO:0003236)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|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 transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|kidney(1)	2	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			TCCAGGTCTCCAACAGAGCCA	0.647																																						ENST00000300057.4																			0				NS(1)|kidney(1)	2						c.(751-753)ttG>ttA		mesoderm posterior 1 homolog (mouse)		C		1,4399	2.1+/-5.4	0,1,2199	76	77	76		753	-1.4	1.0	15		76	0,8598		0,0,4299	no	coding-synonymous	MESP1	NM_018670.3		0,1,6498	TT,TC,CC		0.0,0.0227,0.0077		251/269	90293429	1,12997	2200	4299	6499	SO:0001819	synonymous_variant	55897				cardiac atrium formation|cardiac cell fate determination|cardiac vascular smooth muscle cell differentiation|cardiac ventricle formation|cardioblast anterior-lateral migration|cardioblast migration to the midline involved in heart field formation|endothelial cell differentiation|gastrulation|growth involved in heart morphogenesis|heart looping|lateral mesoderm development|negative regulation of endodermal cell fate specification|negative regulation of mesodermal cell fate specification|negative regulation of transcription, DNA-dependent|neurogenesis|Notch signaling pathway|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|positive regulation of hepatocyte differentiation|positive regulation of Notch signaling pathway|positive regulation of striated muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|secondary heart field specification|sinoatrial node cell differentiation|sinus venosus morphogenesis		sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr15:90293429C>T		CCDS10355.1	15q26.1	2014-06-30	2014-06-30		ENSG00000166823	ENSG00000166823		"Basic helix-loop-helix proteins"	29658	protein-coding gene	gene with protein product		608689	"mesoderm posterior 1 homolog (mouse)"			8787751, 11578861	Standard	NM_018670		Approved	MGC10676, bHLHc5	uc002bol.3	Q9BRJ9	OTTHUMG00000149810	ENST00000300057.4:c.753G>A	15.37:g.90293429C>T						MESP1_ENST00000559894.1_5'UTR	p.L251L	NM_018670.3	NP_061140.1	Q9BRJ9	MESP1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)		2	831	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		251					Q9NSF1|Q9NSF2	Silent	SNP	ENST00000300057.4	37	c.753G>A	CCDS10355.1																																																																																				0.647	MESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313421.1	NM_018670		7	108	0	0	0	0.02938	0	7	108					T	90293429	C	T	90293429	2	4	357	1	0	0	0	0	0	0	0	1	9482	593	21	2		2	MESP1	15	90293429	Silent	SNP	C	TCGA-ET-A25R-01A-11D-A17V-08	1	90293429	12237963	13	7545	44	2									
TCF3	6929	broad.mit.edu	37	chr19	1612376	1612376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgcgcgttattggccatgCgcctctcccggtccctcagg	11	18	2	0			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr19:1612376C>T	ENST00000344749.5	-	18	1709	c.1643G>A	c.(1642-1644)cGc>cAc	p.R548H	TCF3_ENST00000395423.3_Intron|TCF3_ENST00000588136.1_Missense_Mutation_p.R548H|TCF3_ENST00000262965.5_Intron|TCF3_ENST00000453954.2_Missense_Mutation_p.R463H	NM_001136139.2	NP_001129611.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R548H(1)		breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		ATTGGCCATGCGCCTCTCCCG	0.632			T	"PBX1, HLF, TFPT"	pre B-ALL																																	ENST00000344749.5				Dom	yes		19	19p13.3	6929	T	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)			L	"PBX1, HLF, TFPT"		pre B-ALL		1	Substitution - Missense(1)	p.R548H(1)	kidney(1)	breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(1642-1644)cGc>cAc		transcription factor 3							71	68	69					19																	1612376		1568	3582	5150	SO:0001583	missense	6929				B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding	g.chr19:1612376C>T	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"Basic helix-loop-helix proteins"	11633	protein-coding gene	gene with protein product	"transcription factor E2-alpha", "immunoglobulin transcription factor 1", "kappa-E2-binding factor", "E2A immunoglobulin enhancer-binding factor E12/E47", "VDR interacting repressor"	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000344749.5:c.1643G>A	19.37:g.1612376C>T	ENSP00000344375:p.Arg548His					TCF3_ENST00000588136.1_Missense_Mutation_p.R548H|TCF3_ENST00000453954.2_Missense_Mutation_p.R463H|TCF3_ENST00000395423.3_Intron|TCF3_ENST00000262965.5_Intron	p.R548H	NM_001136139.2	NP_001129611.1	P15923	TFE2_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)	18	1709	-		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)	551					Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000344749.5	37	c.1643G>A	CCDS45899.1	.	.	.	.	.	.	.	.	.	.	C	34	5.379015	0.95945	.	.	ENSG00000071564	ENST00000344749;ENST00000453954	D	0.99158	-5.5	4.63	4.63	0.57726	.	.	.	.	.	D	0.99263	0.9743	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99157	1.0860	8	0.62326	D	0.03	.	16.8493	0.85989	0.0:1.0:0.0:0.0	.	548	P15923-2	.	H	548	ENSP00000344375:R548H	ENSP00000344375:R548H	R	-	2	0	TCF3	1563376	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.611000	0.82962	2.284000	0.76573	0.561000	0.74099	CGC		0.632	TCF3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449375.1	NM_003200		5	92	0	0	0	0.014758	0	5	92					T	1612376	C	T	1612376	3	4	357	1	0	0	0	0	1	0	0	0	15691	768	27	1	320	1	TCF3	19	1612376	Missense_Mutation	SNP	C	TCGA-ET-A25R-01A-11D-A17V-08		1612376	57516607	14	7546											
TNRC6B	23112	broad.mit.edu	37	chr22	40708536	40708536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaggagtgccatggaaagGtatccaaaacattgaccctg	10	10	0	1			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr22:40708536G>A	ENST00000454349.2	+	18	4674	c.4463G>A	c.(4462-4464)gGt>gAt	p.G1488D	TNRC6B_ENST00000335727.9_Missense_Mutation_p.G1378D|TNRC6B_ENST00000301923.9_Missense_Mutation_p.G684D|TNRC6B_ENST00000402203.1_Missense_Mutation_p.G684D	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1488	PABPC1-interacting motif-2 (PAM2).|Silencing domain; interaction with CNOT1 and PAN3.				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)|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)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						CCATGGAAAGGTATCCAAAAC	0.423																																						ENST00000454349.2																			0				breast(1)	1						c.(4462-4464)gGt>gAt		trinucleotide repeat containing 6B							82	81	82					22																	40708536		2013	4194	6207	SO:0001583	missense	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40708536G>A	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"Trinucleotide (CAG) repeat containing"	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.4463G>A	22.37:g.40708536G>A	ENSP00000401946:p.Gly1488Asp					TNRC6B_ENST00000335727.8_Missense_Mutation_p.G1378D|TNRC6B_ENST00000301923.9_Missense_Mutation_p.G684D|TNRC6B_ENST00000402203.1_Missense_Mutation_p.G684D	p.G1488D	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN			18	4674	+			1488					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	37	c.4463G>A	CCDS54533.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.185277|5.185277	0.94885|0.94885	.|.	.|.	ENSG00000100354|ENSG00000100354	ENST00000301923;ENST00000402203;ENST00000454349;ENST00000400140;ENST00000335727|ENST00000446273	T;T;T;T|.	0.69806|.	-0.43;-0.43;0.92;0.87|.	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82669|0.82669	0.5087|0.5087	M|M	0.85373|0.85373	2.75|2.75	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.998;0.998;0.999;0.998|.	D|D	0.84642|0.84642	0.0696|0.0696	10|5	0.87932|.	D|.	0|.	-6.0511|-6.0511	18.6553|18.6553	0.91450|0.91450	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1488;1378;1378;684|.	Q9UPQ9;A8MYY3;Q9UPQ9-1;Q9UPQ9-2|.	TNR6B_HUMAN;.;.;.|.	D|I	684;684;1488;1378;1378|1174	ENSP00000306759:G684D;ENSP00000384795:G684D;ENSP00000401946:G1488D;ENSP00000338371:G1378D|.	ENSP00000306759:G684D|.	G|V	+|+	2|1	0|0	TNRC6B|TNRC6B	39038482|39038482	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.801000|9.801000	0.99128|0.99128	2.405000|2.405000	0.81733|0.81733	0.655000|0.655000	0.94253|0.94253	GGT|GTA		0.423	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				26	56	0	0	0	0.0918	0	26	56					A	40708536	G	A	40708536	3	1	357	1	0	0	0	0	1	0	0	0	16338	1261	44	2	4654	2	TNRC6B	22	40708536	Missense_Mutation	SNP	G	TCGA-ET-A25R-01A-11D-A17V-08		40708536	10596030	15	7547											
PHF8	23133	broad.mit.edu	37	chrX	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-													tgttcatccagactggcgttCtcctcctcctcctcgctctc							TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chrX:54011405_54011407delCTC	ENST00000357988.5	-	18	2849_2851	c.2491_2493delGAG	c.(2491-2493)gagdel	p.E831del	PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000338154.6_In_Frame_Del_p.E795del	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|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)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GACTGGCGTTCTCCTCCTCCTCC	0.591																																						ENST00000338154.6																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(2383-2385)del		PHD finger protein 8																																				SO:0001651	inframe_deletion	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54011405_54011407delCTC	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	20672	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1F"	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.2491_2493delGAG	X.37:g.54011414_54011416delCTC	ENSP00000350676:p.Glu831del					PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000357988.5_In_Frame_Del_p.E831del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del	p.E795del	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN			18	2887_2889	-			831			Ser-rich.		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	In_Frame_Del	DEL	ENST00000357988.5	37	c.2383_2385delGAG	CCDS55420.1																																																																																				0.591	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		7	243						7	243	---	---	---	---	-	54011407	CTC	-	54011405	7	5	357	1	0	1	0	1	0	0	0	0	11840	912	32	0	835	0	PHF8	23	54011405	In_Frame_Del	DEL	CTC	TCGA-ET-A25R-01A-11D-A17V-08		54011405	101259155	16	7548											
MAN1C1	57134	broad.mit.edu	37	chr1	26107493	26107493	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagaggccgtggccacccagCtgagcgagagctactacatc	13	13	0	3			TCGA-ET-A2MX-01A-11D-A23M-08	TCGA-ET-A2MX-11C-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6818a84d-3c69-4a28-b435-cc24bc054277	598b09bc-2542-4146-89d3-fdbb1bbe1f60	g.chr1:26107493C>A	ENST00000374332.4	+	10	1870	c.1540C>A	c.(1540-1542)Ctg>Atg	p.L514M	MAN1C1_ENST00000374329.1_Missense_Mutation_p.L285M|MAN1C1_ENST00000263979.3_Missense_Mutation_p.L334M	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	514					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		GGCCACCCAGCTGAGCGAGAG	0.612																																						ENST00000374332.4																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25						c.(1540-1542)Ctg>Atg		mannosidase, alpha, class 1C, member 1							88	90	89					1																	26107493		2203	4300	6503	SO:0001583	missense	57134				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:26107493C>A	AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.1540C>A	1.37:g.26107493C>A	ENSP00000363452:p.Leu514Met					MAN1C1_ENST00000374329.1_Missense_Mutation_p.L285M|MAN1C1_ENST00000263979.3_Missense_Mutation_p.L334M	p.L514M	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)	10	1870	+		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)	514					A6NNE2|B2RNP2|Q9Y545	Missense_Mutation	SNP	ENST00000374332.4	37	c.1540C>A	CCDS265.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869293	0.32977	.	.	ENSG00000117643	ENST00000374332;ENST00000374331;ENST00000263979;ENST00000374329	T;T;T	0.73047	-0.71;-0.71;-0.71	5.14	3.24	0.37175	.	0.270023	0.30850	N	0.008756	T	0.58177	0.2104	L	0.31845	0.965	0.20489	N	0.999895	B	0.17852	0.024	B	0.32149	0.141	T	0.48375	-0.9041	10	0.32370	T	0.25	.	6.1167	0.20130	0.1612:0.6831:0.0:0.1558	.	514	Q9NR34	MA1C1_HUMAN	M	514;334;334;285	ENSP00000363452:L514M;ENSP00000263979:L334M;ENSP00000363449:L285M	ENSP00000263979:L334M	L	+	1	2	MAN1C1	25980080	0.998000	0.40836	0.587000	0.28692	0.836000	0.47400	2.620000	0.46410	0.530000	0.28619	0.561000	0.74099	CTG		0.612	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012828.3	NM_020379		4	119	1	0	1	1	1	4	119					A	26107493	C	A	26107493	3	1	358	1	0	0	0	0	1	0	0	0	9213	796	28	4	1578	4	MAN1C1	1	26107493	Missense_Mutation	SNP	C	TCGA-ET-A2MX-01A-11D-A23M-08		26107493	223143128	1	7549											
GPR45	11250	broad.mit.edu	37	chr2	105859266	105859266	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctcagttacctcaagtcCgtcttcaaccccatcgtcta	6	15	5	0	rs370186894		TCGA-ET-A2MX-01A-11D-A23M-08	TCGA-ET-A2MX-11C-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6818a84d-3c69-4a28-b435-cc24bc054277	598b09bc-2542-4146-89d3-fdbb1bbe1f60	g.chr2:105859266C>T	ENST00000258456.1	+	1	1067	c.951C>T	c.(949-951)tcC>tcT	p.S317S		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	317						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						ACCTCAAGTCCGTCTTCAACC	0.552																																						ENST00000258456.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						c.(949-951)tcC>tcT		G protein-coupled receptor 45							121	120	120					2																	105859266		2203	4300	6503	SO:0001819	synonymous_variant	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105859266C>T	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"GPCR / Class A : Orphans"	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.951C>T	2.37:g.105859266C>T							p.S317S	NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN			1	1067	+			317					Q6NWS4|Q6NXU6	Silent	SNP	ENST00000258456.1	37	c.951C>T	CCDS2066.1																																																																																				0.552	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		7	135	0	0	0	1	0	7	135					T	105859266	C	T	105859266	2	4	358	1	0	0	0	0	0	0	0	1	6696	639	23	1		1	GPR45	2	105859266	Silent	SNP	C	TCGA-ET-A2MX-01A-11D-A23M-08		105859266	137340107	2	7550											
ALS2CR8	79800	broad.mit.edu	37	chr2	203806639	203806639	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagcatggaacaatctaAtgattcattaagagtcaacc	7	8	4	2			TCGA-ET-A2MX-01A-11D-A23M-08	TCGA-ET-A2MX-11C-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6818a84d-3c69-4a28-b435-cc24bc054277	598b09bc-2542-4146-89d3-fdbb1bbe1f60	g.chr2:203806639A>G	ENST00000402905.3	+	3	335	c.14A>G	c.(13-15)aAt>aGt	p.N5S	CARF_ENST00000471271.1_3'UTR|CARF_ENST00000444724.1_Missense_Mutation_p.N5S|CARF_ENST00000428585.1_Missense_Mutation_p.N5S|CARF_ENST00000434998.1_Intron|CARF_ENST00000545262.1_Missense_Mutation_p.N5S|CARF_ENST00000320443.8_Missense_Mutation_p.N5S|CARF_ENST00000438828.2_Missense_Mutation_p.N5S|CARF_ENST00000456821.2_Intron|CARF_ENST00000414439.1_Intron|CARF_ENST00000545253.1_Intron|WDR12_ENST00000477723.1_Intron	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	5					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|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 transcription factor activity (GO:0003700)										GAACAATCTAATGATTCATTA	0.343																																						ENST00000320443.8																			0											c.(13-15)aAt>aGt		calcium responsive transcription factor							132	125	127					2																	203806639		1852	4088	5940	SO:0001583	missense	79800							g.chr2:203806639A>G	AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"calcium-response factor"	607586	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.14A>G	2.37:g.203806639A>G	ENSP00000384006:p.Asn5Ser					CARF_ENST00000428585.1_Missense_Mutation_p.N5S|CARF_ENST00000545253.1_Intron|CARF_ENST00000444724.1_Missense_Mutation_p.N5S|CARF_ENST00000434998.1_Intron|WDR12_ENST00000477723.1_Intron|CARF_ENST00000471271.1_3'UTR|CARF_ENST00000456821.2_Intron|CARF_ENST00000545262.1_Missense_Mutation_p.N5S|CARF_ENST00000414439.1_Intron|CARF_ENST00000402905.2_Missense_Mutation_p.N5S|CARF_ENST00000438828.2_Missense_Mutation_p.N5S	p.N5S							3	1057	+								B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Missense_Mutation	SNP	ENST00000402905.3	37	c.14A>G	CCDS42801.1	.	.	.	.	.	.	.	.	.	.	A	6.002	0.368746	0.11352	.	.	ENSG00000138380	ENST00000402905;ENST00000414490;ENST00000444724;ENST00000414857;ENST00000430899;ENST00000441569;ENST00000432024;ENST00000443740;ENST00000428585;ENST00000545262;ENST00000447539;ENST00000320443;ENST00000438828	.	.	.	5.28	1.64	0.23874	.	0.806228	0.11198	N	0.589123	T	0.19765	0.0475	N	0.16478	0.41	0.09310	N	1	B;B;B;B	0.11235	0.0;0.004;0.001;0.002	B;B;B;B	0.10450	0.001;0.005;0.002;0.003	T	0.20773	-1.0265	9	0.41790	T	0.15	-0.0492	3.7259	0.08474	0.6512:0.0:0.1775:0.1713	.	5;5;5;5	G3V1K7;B4DRP6;Q8N187;F6SXV3	.;.;AL2S8_HUMAN;.	S	5	.	ENSP00000316224:N5S	N	+	2	0	ALS2CR8	203514884	0.001000	0.12720	0.003000	0.11579	0.960000	0.62799	0.683000	0.25349	0.318000	0.23185	0.528000	0.53228	AAT		0.343	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5	NM_001104586		6	78	0	0	0	1	0	6	78					G	203806639	A	G	203806639	3	3	358	1	0	0	0	0	1	0	0	0	555	101	4	3	16	3	ALS2CR8	2	203806639	Missense_Mutation	SNP	A	TCGA-ET-A2MX-01A-11D-A23M-08	97947373	203806639	39392734	3	7551											
IL17RB	55540	broad.mit.edu	37	chr3	53898851	53898851	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtttacccatctgaaaTatgtttccatcacacaattt	5	9	2	1			TCGA-ET-A2MX-01A-11D-A23M-08	TCGA-ET-A2MX-11C-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6818a84d-3c69-4a28-b435-cc24bc054277	598b09bc-2542-4146-89d3-fdbb1bbe1f60	g.chr3:53898851T>C	ENST00000288167.3	+	11	1034	c.1025T>C	c.(1024-1026)aTa>aCa	p.I342T		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	342	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|regulation of cell growth (GO:0001558)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		CCATCTGAAATATGTTTCCAT	0.393																																						ENST00000288167.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13						c.(1024-1026)aTa>aCa		interleukin 17 receptor B							131	125	127					3																	53898851		2203	4300	6503	SO:0001583	missense	55540				defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr3:53898851T>C	AF212365	CCDS2874.1	3p21.1	2008-02-05		2003-07-09	ENSG00000056736	ENSG00000056736		"Interleukins and interleukin receptors"	18015	protein-coding gene	gene with protein product		605458	"interleukin 17B receptor"	IL17BR		10749887, 10815801	Standard	NM_018725		Approved	IL17RH1, EVI27, CRL4	uc003dha.3	Q9NRM6	OTTHUMG00000158280	ENST00000288167.3:c.1025T>C	3.37:g.53898851T>C	ENSP00000288167:p.Ile342Thr						p.I342T	NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	11	1034	+			342			SEFIR.		Q9BPZ0|Q9NRL4|Q9NRM5	Missense_Mutation	SNP	ENST00000288167.3	37	c.1025T>C	CCDS2874.1	.	.	.	.	.	.	.	.	.	.	T	10.56	1.383257	0.25031	.	.	ENSG00000056736	ENST00000288167;ENST00000494338	T;T	0.28454	1.61;1.61	5.84	4.67	0.58626	SEFIR (1);	0.261257	0.31102	N	0.008245	T	0.29458	0.0734	M	0.63428	1.95	0.09310	N	1	P	0.43231	0.801	B	0.43990	0.438	T	0.13656	-1.0501	10	0.09590	T	0.72	-12.4256	8.0515	0.30581	0.0:0.1503:0.0:0.8497	.	342	Q9NRM6	I17RB_HUMAN	T	342;326	ENSP00000288167:I342T;ENSP00000418638:I326T	ENSP00000288167:I342T	I	+	2	0	IL17RB	53873891	0.003000	0.15002	0.416000	0.26546	0.998000	0.95712	0.892000	0.28322	2.230000	0.72887	0.528000	0.53228	ATA		0.393	IL17RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350563.1	NM_172234		5	86	0	0	0	1	0	5	86					C	53898851	T	C	53898851	3	2	358	1	0	0	0	0	1	0	0	0	7640	1406	49	3	1067	3	IL17RB	3	53898851	Missense_Mutation	SNP	T	TCGA-ET-A2MX-01A-11D-A23M-08		53898851	144123579	4	7552											
DCTD	1635	broad.mit.edu	37	chr4	183815718	183815718	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctacagcctttcacatcggtCgaatttttgttcatgatggc	8	10	2	1			TCGA-ET-A2MX-01A-11D-A23M-08	TCGA-ET-A2MX-11C-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6818a84d-3c69-4a28-b435-cc24bc054277	598b09bc-2542-4146-89d3-fdbb1bbe1f60	g.chr4:183815718C>T	ENST00000438320.2	-	4	575	c.285G>A	c.(283-285)tcG>tcA	p.S95S	DCTD_ENST00000510370.1_Silent_p.S95S|DCTD_ENST00000357067.3_Silent_p.S106S	NM_001921.2	NP_001912.2	P32321	DCTD_HUMAN	dCMP deaminase	95				S -> L (in Ref. 6; AAH01286). {ECO:0000305}.	nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	dCMP deaminase activity (GO:0004132)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1)	18		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)	Cytarabine(DB00987)	TCACATCGGTCGAATTTTTGT	0.438																																						ENST00000438320.2																			0				endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1)	18						c.(283-285)tcG>tcA		dCMP deaminase							210	169	183					4																	183815718		2203	4300	6503	SO:0001819	synonymous_variant	1635				nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process	cytosol	dCMP deaminase activity|zinc ion binding	g.chr4:183815718C>T	L12136	CCDS3831.1, CCDS34108.1	4q35.1	2008-08-01			ENSG00000129187	ENSG00000129187	3.5.4.12		2710	protein-coding gene	gene with protein product		607638					Standard	XM_005262778		Approved		uc003ivg.3	P32321	OTTHUMG00000160685	ENST00000438320.2:c.285G>A	4.37:g.183815718C>T						DCTD_ENST00000357067.3_Silent_p.S106S|DCTD_ENST00000510370.1_Silent_p.S95S	p.S95S	NM_001921.2	NP_001912.2	P32321	DCTD_HUMAN		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)	4	575	-		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)	95	S -> L (in Ref. 6; AAH01286).				B2R836|D3DP49|D3DP50|Q5M7Z8|Q9BVD8	Silent	SNP	ENST00000438320.2	37	c.285G>A	CCDS3831.1																																																																																				0.438	DCTD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361743.2			14	33	0	0	0	1	0	14	33					T	183815718	C	T	183815718	2	4	358	1	0	0	0	0	0	0	0	1	4305	871	31	1		1	DCTD	4	183815718	Silent	SNP	C	TCGA-ET-A2MX-01A-11D-A23M-08		183815718	7338558	5	7553											
CEP120	153241	broad.mit.edu	37	chr5	122717833	122717833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttactagtgattctctttctCggtcccttttcttccattcc	4	13	3	1			TCGA-ET-A2MX-01A-11D-A23M-08	TCGA-ET-A2MX-11C-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6818a84d-3c69-4a28-b435-cc24bc054277	598b09bc-2542-4146-89d3-fdbb1bbe1f60	g.chr5:122717833C>T	ENST00000306467.5	-	14	2379	c.2075G>A	c.(2074-2076)cGa>cAa	p.R692Q	CEP120_ENST00000328236.5_Missense_Mutation_p.R692Q|CEP120_ENST00000306481.6_Missense_Mutation_p.R666Q			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	692					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						TTCTCTTTCTCGGTCCCTTTT	0.363																																						ENST00000306467.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(2074-2076)cGa>cAa		centrosomal protein 120kDa							135	133	134					5																	122717833		2203	4300	6503	SO:0001583	missense	153241					centrosome		g.chr5:122717833C>T	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"coiled-coil domain containing 100"	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.2075G>A	5.37:g.122717833C>T	ENSP00000303058:p.Arg692Gln					CEP120_ENST00000328236.5_Missense_Mutation_p.R692Q|CEP120_ENST00000306481.6_Missense_Mutation_p.R666Q	p.R692Q			Q8N960	CE120_HUMAN			14	2379	-			692					Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	c.2075G>A	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	C	10.51	1.369864	0.24771	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.1	3.29	0.37713	.	0.700034	0.14099	N	0.341506	T	0.31575	0.0801	L	0.32530	0.975	0.21782	N	0.999549	B	0.25743	0.133	B	0.16289	0.015	T	0.12630	-1.0540	10	0.21014	T	0.42	-7.3996	7.7009	0.28621	0.0:0.6864:0.0:0.3136	.	692	Q8N960	CE120_HUMAN	Q	692;692;666;666	ENSP00000303058:R692Q;ENSP00000327504:R692Q;ENSP00000307419:R666Q;ENSP00000421620:R666Q	ENSP00000303058:R692Q	R	-	2	0	CEP120	122745732	0.536000	0.26378	1.000000	0.80357	0.943000	0.58893	0.419000	0.21247	1.288000	0.44600	-0.225000	0.12378	CGA		0.363	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		22	27	0	0	0	1	0	22	27					T	122717833	C	T	122717833	3	4	358	1	0	0	0	0	1	0	0	0	3246	884	31	1	913	1	CEP120	5	122717833	Missense_Mutation	SNP	C	TCGA-ET-A2MX-01A-11D-A23M-08		122717833	58197427	6	7554											
C9orf123	90871	broad.mit.edu	37	chr9	7799725	7799725	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcaaaaggctgggacaaccGagaccccatgctctggaact	10	13	2	1			TCGA-ET-A2MX-01A-11D-A23M-08	TCGA-ET-A2MX-11C-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6818a84d-3c69-4a28-b435-cc24bc054277	598b09bc-2542-4146-89d3-fdbb1bbe1f60	g.chr9:7799725G>A	ENST00000358227.4	-	1	342	c.10C>T	c.(10-12)Cgg>Tgg	p.R4W	TMEM261_ENST00000484082.1_Intron	NM_033428.1	NP_219500.1	Q96GE9	TM261_HUMAN	transmembrane protein 261	4						integral component of membrane (GO:0016021)											TGGGACAACCGAGACCCCATG	0.642																																						ENST00000358227.4																			0				lung(1)	1						c.(10-12)Cgg>Tgg									23	23	23					9																	7799725		2203	4300	6503	SO:0001583	missense	0					integral to membrane		g.chr9:7799725G>A	BC009510	CCDS34989.1	9p24.1	2014-02-21	2013-09-11	2013-09-11	ENSG00000137038	ENSG00000137038			30536	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 123"	C9orf123		21666724	Standard	NM_033428		Approved	MGC4730	uc003zkj.3	Q96GE9	OTTHUMG00000019539	ENST00000358227.4:c.10C>T	9.37:g.7799725G>A	ENSP00000350961:p.Arg4Trp					C9orf123_ENST00000484082.1_Intron	p.R4W	NM_033428.1	NP_219500.1	Q96GE9	CI123_HUMAN		GBM - Glioblastoma multiforme(50;0.0561)	1	342	-		all_cancers(3;0.0539)|Lung NSC(3;3.36e-05)|all_lung(3;0.000156)|all_epithelial(3;0.0356)	4					A8K9B7|Q5T6Y9|Q9NT74	Missense_Mutation	SNP	ENST00000358227.4	37	c.10C>T	CCDS34989.1	.	.	.	.	.	.	.	.	.	.	g	12.70	2.017552	0.35606	.	.	ENSG00000137038	ENST00000358227	T	0.45668	0.89	4.48	-2.3	0.06785	.	4.734690	0.00682	N	0.000688	T	0.21145	0.0509	N	0.08118	0	0.09310	N	1	P;P	0.48350	0.909;0.909	B;B	0.41723	0.365;0.365	T	0.07139	-1.0788	10	0.49607	T	0.09	-18.367	0.6756	0.00866	0.3386:0.3027:0.1875:0.1711	.	4;4	Q96GE9-2;Q96GE9	.;CI123_HUMAN	W	4	ENSP00000350961:R4W	ENSP00000350961:R4W	R	-	1	2	C9orf123	7789725	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.712000	0.05013	-0.387000	0.07809	-1.116000	0.02052	CGG		0.642	TMEM261-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051705.1	NM_033428		20	28	0	0	0	1	0	20	28					A	7799725	G	A	7799725	3	1	358	1	0	0	0	0	1	0	0	0	2453	1057	37	1	336	1	C9orf123	9	7799725	Missense_Mutation	SNP	G	TCGA-ET-A2MX-01A-11D-A23M-08		7799725	133413706	7	7555											
TNC	3371	broad.mit.edu	37	chr9	117849425	117849425	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaatgcaccggcctcgaagGtgacagttgcctggacattc	11	12	1	1			TCGA-ET-A2MX-01A-11D-A23M-08	TCGA-ET-A2MX-11C-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6818a84d-3c69-4a28-b435-cc24bc054277	598b09bc-2542-4146-89d3-fdbb1bbe1f60	g.chr9:117849425G>A	ENST00000350763.4	-	3	996	c.585C>T	c.(583-585)caC>caT	p.H195H	TNC_ENST00000535648.1_Silent_p.H195H|TNC_ENST00000542877.1_Silent_p.H195H|TNC_ENST00000537320.1_Silent_p.H195H|TNC_ENST00000340094.3_Silent_p.H195H|TNC_ENST00000341037.4_Silent_p.H195H|TNC_ENST00000345230.3_Silent_p.H195H|TNC_ENST00000423613.2_Silent_p.H195H|TNC_ENST00000346706.3_Silent_p.H195H	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	195	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GGCCTCGAAGGTGACAGTTGC	0.622																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(583-585)caC>caT		tenascin C							108	95	99					9																	117849425		2203	4300	6503	SO:0001819	synonymous_variant	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117849425G>A		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.585C>T	9.37:g.117849425G>A						TNC_ENST00000535648.1_Silent_p.H195H|TNC_ENST00000542877.1_Silent_p.H195H|TNC_ENST00000341037.4_Silent_p.H195H|TNC_ENST00000537320.1_Silent_p.H195H|TNC_ENST00000346706.3_Silent_p.H195H|TNC_ENST00000340094.3_Silent_p.H195H|TNC_ENST00000345230.3_Silent_p.H195H|TNC_ENST00000423613.2_Silent_p.H195H	p.H195H	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			3	996	-			195			EGF-like 2.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	c.585C>T	CCDS6811.1																																																																																				0.622	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		51	48	0	0	0	1	0	51	48					A	117849425	G	A	117849425	2	1	358	1	0	0	0	0	0	0	0	1	16267	1252	44	2		2	TNC	9	117849425	Silent	SNP	G	TCGA-ET-A2MX-01A-11D-A23M-08	110049700	117849425	23364006	8	7556											
STIM1	6786	broad.mit.edu	37	chr11	4107718	4107718	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttgcagcccctagcctgCagagcagtgttcggcagcgc	12	15	0	1			TCGA-ET-A2MX-01A-11D-A23M-08	TCGA-ET-A2MX-11C-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6818a84d-3c69-4a28-b435-cc24bc054277	598b09bc-2542-4146-89d3-fdbb1bbe1f60	g.chr11:4107718C>T	ENST00000300737.4	+	11	2055	c.1486C>T	c.(1486-1488)Cag>Tag	p.Q496*	STIM1_ENST00000533977.1_Nonsense_Mutation_p.Q323*|STIM1_ENST00000527651.1_Nonsense_Mutation_p.Q496*	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	496					activation of store-operated calcium channel activity (GO:0032237)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|regulation of calcium ion transport (GO:0051924)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)|microtubule (GO:0005874)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|microtubule plus-end binding (GO:0051010)|store-operated calcium channel activity (GO:0015279)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		CCCTAGCCTGCAGAGCAGTGT	0.587																																						ENST00000300737.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1486-1488)Cag>Tag		stromal interaction molecule 1							37	34	35					11																	4107718		2201	4298	6499	SO:0001587	stop_gained	6786				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding	g.chr11:4107718C>T	BC021300, U52426	CCDS7749.1, CCDS60706.1, CCDS73247.1	11p15.5	2014-09-17			ENSG00000167323	ENSG00000167323		"Sterile alpha motif (SAM) domain containing"	11386	protein-coding gene	gene with protein product		605921				8921403, 11463338, 11983428	Standard	NM_003156		Approved	GOK, D11S4896E	uc021qco.1	Q13586	OTTHUMG00000133360	ENST00000300737.4:c.1486C>T	11.37:g.4107718C>T	ENSP00000300737:p.Gln496*					STIM1_ENST00000527651.1_Nonsense_Mutation_p.Q496*|STIM1_ENST00000533977.1_Nonsense_Mutation_p.Q323*	p.Q496*	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)	11	2055	+		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)	496					E9PQJ4|Q8N382	Nonsense_Mutation	SNP	ENST00000300737.4	37	c.1486C>T	CCDS7749.1	.	.	.	.	.	.	.	.	.	.	C	34	5.325269	0.95708	.	.	ENSG00000167323	ENST00000300737;ENST00000527651;ENST00000533977	.	.	.	5.33	5.33	0.75918	.	0.320665	0.35970	N	0.002871	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-34.6079	14.517	0.67826	0.0:1.0:0.0:0.0	.	.	.	.	X	496;496;323	.	ENSP00000300737:Q496X	Q	+	1	0	STIM1	4064294	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.561000	0.45905	2.498000	0.84270	0.407000	0.27541	CAG		0.587	STIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257196.1	NM_003156		4	21	0	0	0	1	0	4	21					T	4107718	C	T	4107718	4	4	358	1	0	0	0	0	0	1	0	0	15282	711	25	2	1528	2	STIM1	11	4107718	Nonsense_Mutation	SNP	C	TCGA-ET-A2MX-01A-11D-A23M-08		4107718	130898798	9	7557											
OR5I1	10798	broad.mit.edu	37	chr11	55702995	55702995	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcctttacatctttatttctCaaactataaatcaacggatt	2	9	3	0			TCGA-ET-A2MX-01A-11D-A23M-08	TCGA-ET-A2MX-11C-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6818a84d-3c69-4a28-b435-cc24bc054277	598b09bc-2542-4146-89d3-fdbb1bbe1f60	g.chr11:55702995C>G	ENST00000301532.3	-	1	881	c.882G>C	c.(880-882)ttG>ttC	p.L294F		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	294					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CTTTATTTCTCAAACTATAAA	0.358																																						ENST00000301532.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(880-882)ttG>ttC		olfactory receptor, family 5, subfamily I, member 1							62	61	61					11																	55702995		2200	4294	6494	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55702995C>G	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"GPCR / Class A : Olfactory receptors"	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.882G>C	11.37:g.55702995C>G	ENSP00000301532:p.Leu294Phe						p.L294F	NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN			1	881	-			294					Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.882G>C	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.745148	0.30955	.	.	ENSG00000167825	ENST00000301532	T	0.39787	1.06	4.96	2.06	0.26882	.	0.000000	0.37715	N	0.001980	T	0.63010	0.2475	M	0.87097	2.86	0.34057	D	0.656884	D	0.76494	0.999	D	0.80764	0.994	T	0.70457	-0.4866	10	0.87932	D	0	.	6.9734	0.24662	0.0:0.6931:0.1428:0.1641	.	294	Q13606	OR5I1_HUMAN	F	294	ENSP00000301532:L294F	ENSP00000301532:L294F	L	-	3	2	OR5I1	55459571	0.000000	0.05858	0.050000	0.19076	0.469000	0.32828	-1.281000	0.02802	0.219000	0.20840	-0.149000	0.13747	TTG		0.358	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		11	16	0	0	0	1	0	11	16					G	55702995	C	G	55702995	3	3	358	1	0	0	0	0	1	0	0	0	11164	825	29	4	65	4	OR5I1	11	55702995	Missense_Mutation	SNP	C	TCGA-ET-A2MX-01A-11D-A23M-08	51595277	55702995	79303521	10	7558											
PATL1	219988	broad.mit.edu	37	chr11	59423492	59423492	+	Frame_Shift_Del	DEL	A	A	-													acaggaggaacactaggaggAaaagggtgacccaggaggga							TCGA-ET-A2MX-01A-11D-A23M-08	TCGA-ET-A2MX-11C-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6818a84d-3c69-4a28-b435-cc24bc054277	598b09bc-2542-4146-89d3-fdbb1bbe1f60	g.chr11:59423492delA	ENST00000300146.9	-	7	834	c.750delT	c.(748-750)tttfs	p.F250fs		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	250	Involved in RNA-binding.|Involved in nuclear foci localization.|Pro-rich.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|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)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						CACTAGGAGGAAAAGGGTGAC	0.438																																						ENST00000300146.9																			0				central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						c.(748-750)ttfs		protein associated with topoisomerase II homolog 1 (yeast)							14	14	14					11																	59423492		1821	4070	5891	SO:0001589	frameshift_variant	219988				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding	g.chr11:59423492delA	AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.750delT	11.37:g.59423492delA	ENSP00000300146:p.Phe250fs						p.F250fs	NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN			7	834	-			250			Pro-rich.|Region N; interaction with decapping machinery.		B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Frame_Shift_Del	DEL	ENST00000300146.9	37	c.750delT	CCDS44613.1																																																																																				0.438	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394559.1	NM_152716		2	4						2	4	---	---	---	---	-	59423492	A	-	59423492	7	5	358	1	0	1	0	1	0	0	0	0	11475	243	9	0	1614	0	PATL1	11	59423492	Frame_Shift_Del	DEL	A	TCGA-ET-A2MX-01A-11D-A23M-08	3720497	59423492	75583024	11	7559											
MLL2	8085	broad.mit.edu	37	chr12	49440047	49440047	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaagggatgttctcaccgttCacagtggcggcactggatta	12	9	2	0			TCGA-ET-A2MX-01A-11D-A23M-08	TCGA-ET-A2MX-11C-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6818a84d-3c69-4a28-b435-cc24bc054277	598b09bc-2542-4146-89d3-fdbb1bbe1f60	g.chr12:49440047C>T	ENST00000301067.7	-	16	4578	c.4579G>A	c.(4579-4581)Gaa>Aaa	p.E1527K		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1527					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)										TCTCACCGTTCACAGTGGCGG	0.542																																						ENST00000301067.7																			0											c.(4579-4581)Gaa>Aaa		lysine (K)-specific methyltransferase 2D							62	71	68					12																	49440047		2169	4277	6446	SO:0001583	missense	8085							g.chr12:49440047C>T	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.4579G>A	12.37:g.49440047C>T	ENSP00000301067:p.Glu1527Lys						p.E1527K	NM_003482.3	NP_003473.3					16	4578	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.4579G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.368330	0.61513	.	.	ENSG00000167548	ENST00000301067	T	0.63417	-0.04	5.22	5.22	0.72569	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.39687	N	0.001286	T	0.51244	0.1663	L	0.31476	0.935	0.52099	D	0.999942	P	0.49090	0.919	B	0.38378	0.272	T	0.61073	-0.7136	10	0.87932	D	0	.	17.5423	0.87851	0.0:1.0:0.0:0.0	.	1527	O14686	MLL2_HUMAN	K	1527	ENSP00000301067:E1527K	ENSP00000301067:E1527K	E	-	1	0	MLL2	47726314	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.487000	0.81328	2.434000	0.82447	0.655000	0.94253	GAA		0.542	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			12	18	0	0	0	1	0	12	18					T	49440047	C	T	49440047	3	4	358	1	0	0	0	0	1	0	0	0	9621	835	29	2	12190	2	MLL2	12	49440047	Missense_Mutation	SNP	C	TCGA-ET-A2MX-01A-11D-A23M-08		49440047	84411848	12	7560											
GAS6	2621	broad.mit.edu	37	chr13	114542718	114542718	+	Frame_Shift_Del	DEL	C	C	-													tacctttgtcgcagagccggCccccccagccagctttacac							TCGA-ET-A2MX-01A-11D-A23M-08	TCGA-ET-A2MX-11C-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6818a84d-3c69-4a28-b435-cc24bc054277	598b09bc-2542-4146-89d3-fdbb1bbe1f60	g.chr13:114542718delC	ENST00000327773.6	-	5	595	c.449delG	c.(448-450)ggcfs	p.G150fs	GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000357389.3_Frame_Shift_Del_p.G150fs|GAS6_ENST00000355761.4_Frame_Shift_Del_p.G96fs	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	150	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				GCAGAGCCGGCCCCCCCAGCC	0.647																																						ENST00000357389.3																			0				central_nervous_system(4)|ovary(1)	5						c.(448-450)gcfs		growth arrest-specific 6							101	100	100					13																	114542718		2203	4300	6503	SO:0001589	frameshift_variant	2621				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity	g.chr13:114542718delC		CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"AXL stimulatory factor"	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.449delG	13.37:g.114542718delC	ENSP00000331831:p.Gly150fs					GAS6_ENST00000355761.4_Frame_Shift_Del_p.G96fs|GAS6_ENST00000327773.6_Frame_Shift_Del_p.G150fs	p.G150fs			Q14393	GAS6_HUMAN			5	601	-	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)	150			EGF-like 1; calcium-binding (Potential).		B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Frame_Shift_Del	DEL	ENST00000327773.6	37	c.449delG	CCDS45072.1																																																																																				0.647	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045946.2	NM_000820		7	176						7	176	---	---	---	---	-	114542718	C	-	114542718	7	5	358	1	0	1	0	1	0	0	0	0	6249	739	26	0	1631	0	GAS6	13	114542718	Frame_Shift_Del	DEL	C	TCGA-ET-A2MX-01A-11D-A23M-08		114542718	627160	13	7561											
HSP90AA1	3320	broad.mit.edu	37	chr14	102548619	102548619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaggtctcaataatggaatGgtcagggtttatctccaggt	11	6	3	0			TCGA-ET-A2MX-01A-11D-A23M-08	TCGA-ET-A2MX-11C-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6818a84d-3c69-4a28-b435-cc24bc054277	598b09bc-2542-4146-89d3-fdbb1bbe1f60	g.chr14:102548619G>A	ENST00000216281.8	-	10	2123	c.1918C>T	c.(1918-1920)Cat>Tat	p.H640Y	HSP90AA1_ENST00000334701.7_Missense_Mutation_p.H762Y	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	640					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	ATAATGGAATGGTCAGGGTTT	0.448																																						ENST00000334701.7																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28						c.(2284-2286)Cat>Tat		heat shock protein 90kDa alpha (cytosolic), class A member 1	Rifabutin(DB00615)						179	181	180					14																	102548619		2203	4300	6503	SO:0001583	missense	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102548619G>A	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"Heat shock proteins / HSPC"	5253	protein-coding gene	gene with protein product		140571	"heat shock 90kD protein 1, alpha", "heat shock 90kDa protein 1, alpha"	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.1918C>T	14.37:g.102548619G>A	ENSP00000216281:p.His640Tyr					HSP90AA1_ENST00000216281.8_Missense_Mutation_p.H640Y	p.H762Y	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN			11	2565	-			640					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	c.2284C>T	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	g	25.0	4.591491	0.86953	.	.	ENSG00000080824	ENST00000216281;ENST00000334701	T;T	0.59224	0.28;0.28	4.51	4.51	0.55191	.	0.000000	0.85682	U	0.000000	D	0.88347	0.6412	H	0.99954	5.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.994	D	0.94569	0.7769	10	0.87932	D	0	-31.6851	17.5881	0.87988	0.0:0.0:1.0:0.0	.	762;640	P07900-2;P07900	.;HS90A_HUMAN	Y	640;762	ENSP00000216281:H640Y;ENSP00000335153:H762Y	ENSP00000216281:H640Y	H	-	1	0	HSP90AA1	101618372	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	9.436000	0.97532	2.228000	0.72767	0.585000	0.79938	CAT		0.448	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		6	195	0	0	0	1	0	6	195					A	102548619	G	A	102548619	3	1	358	1	0	0	0	0	1	0	0	0	7401	1348	47	2	288	2	HSP90AA1	14	102548619	Missense_Mutation	SNP	G	TCGA-ET-A2MX-01A-11D-A23M-08		102548619	4800921	14	7562											
NOTCH3	4854	broad.mit.edu	37	chr19	15272238	15272238	+	Frame_Shift_Del	DEL	G	G	-													ggccccagccccgccttcccGgggggcctcctgctcttctt							TCGA-ET-A2MX-01A-11D-A23M-08	TCGA-ET-A2MX-11C-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6818a84d-3c69-4a28-b435-cc24bc054277	598b09bc-2542-4146-89d3-fdbb1bbe1f60	g.chr19:15272238delG	ENST00000263388.2	-	33	6276	c.6201delC	c.(6199-6201)cccfs	p.P2067fs		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2067					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)			ccgccTTCCCGGGGGGCCTCC	0.751																																						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.(6199-6201)ccfs		notch 3							2	3	3					19																	15272238		1563	3406	4969	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.chr19:15272238delG	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.6201delC	19.37:g.15272238delG	ENSP00000263388:p.Pro2067fs						p.P2067fs	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)		33	6276	-			2067					Q9UEB3|Q9UPL3|Q9Y6L8	Frame_Shift_Del	DEL	ENST00000263388.2	37	c.6201delC	CCDS12326.1																																																																																				0.751	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		2	4						2	4	---	---	---	---	-	15272238	G	-	15272238	7	5	358	1	0	1	0	1	0	0	0	0	10550	1103	39	0	768	0	NOTCH3	19	15272238	Frame_Shift_Del	DEL	G	TCGA-ET-A2MX-01A-11D-A23M-08		15272238	43856745	15	7563											
ERF	2077	broad.mit.edu	37	chr19	42753122	42753122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggcgtccgagtgggggcGgctggagcttaaacttgaat	17	9	0	1	rs1063897		TCGA-ET-A2MX-01A-11D-A23M-08	TCGA-ET-A2MX-11C-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6818a84d-3c69-4a28-b435-cc24bc054277	598b09bc-2542-4146-89d3-fdbb1bbe1f60	g.chr19:42753122G>A	ENST00000222329.4	-	4	1299	c.1142C>T	c.(1141-1143)cCg>cTg	p.P381L	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'Flank|ERF_ENST00000440177.2_Missense_Mutation_p.P306L	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	381				P -> R (in Ref. 1; AAA86686). {ECO:0000305}.	cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GAGTGGGGGCGGCTGGAGCTT	0.692																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(1141-1143)cCg>cTg		Ets2 repressor factor							33	43	40					19																	42753122		2000	4098	6098	SO:0001583	missense	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42753122G>A	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"Ets2 repressor factor"	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1142C>T	19.37:g.42753122G>A	ENSP00000222329:p.Pro381Leu					AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Missense_Mutation_p.P306L	p.P381L	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			4	1299	-		Prostate(69;0.00682)	381	P -> R (in Ref. 1; AAA86686).				B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Missense_Mutation	SNP	ENST00000222329.4	37	c.1142C>T	CCDS12600.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169817	0.57584	.	.	ENSG00000105722	ENST00000222329;ENST00000440177	T;T	0.48201	1.93;0.82	4.01	4.01	0.46588	.	5.351290	0.00520	N	0.000180	T	0.69305	0.3096	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.53507	-0.8429	10	0.87932	D	0	.	14.016	0.64525	0.0:0.0:1.0:0.0	.	381	P50548	ERF_HUMAN	L	381;306	ENSP00000222329:P381L;ENSP00000388173:P306L	ENSP00000222329:P381L	P	-	2	0	ERF	47444962	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	4.532000	0.60608	2.220000	0.72140	0.655000	0.94253	CCG		0.692	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		11	140	0	0	0	1	0	11	140					A	42753122	G	A	42753122	3	1	358	1	0	0	0	0	1	0	0	0	5221	1116	39	1	508	1	ERF	19	42753122	Missense_Mutation	SNP	G	TCGA-ET-A2MX-01A-11D-A23M-08	27480884	42753122	16375861	16	7564											
RNF113A	7737	broad.mit.edu	37	chrX	119005413	119005413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcacccgcttcttttccggtCgaaccacagtgcagccttcg	8	16	2	0			TCGA-ET-A2MX-01A-11D-A23M-08	TCGA-ET-A2MX-11C-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6818a84d-3c69-4a28-b435-cc24bc054277	598b09bc-2542-4146-89d3-fdbb1bbe1f60	g.chrX:119005413C>T	ENST00000371442.2	-	1	378	c.164G>A	c.(163-165)cGa>cAa	p.R55Q	NDUFA1_ENST00000371437.4_5'Flank	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	55							zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						CTTTTCCGGTCGAACCACAGT	0.607																																						ENST00000371442.2																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						c.(163-165)cGa>cAa		ring finger protein 113A							151	145	147					X																	119005413		2203	4300	6503	SO:0001583	missense	7737						nucleic acid binding|zinc ion binding	g.chrX:119005413C>T	X98253	CCDS14589.1	Xq24	2013-10-22	2005-03-22	2005-03-22	ENSG00000125352	ENSG00000125352		"RING-type (C3HC4) zinc fingers"	12974	protein-coding gene	gene with protein product			"zinc finger protein 183 (RING finger, C3HC4 type)"	ZNF183		9224902	Standard	NM_006978		Approved	RNF113, Cwc24	uc004esb.3	O15541	OTTHUMG00000022283	ENST00000371442.2:c.164G>A	X.37:g.119005413C>T	ENSP00000360497:p.Arg55Gln						p.R55Q	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN			1	378	-			55					B2RBR7	Missense_Mutation	SNP	ENST00000371442.2	37	c.164G>A	CCDS14589.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887862	0.52014	.	.	ENSG00000125352	ENST00000371442	T	0.31769	1.48	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.31979	0.0814	M	0.73598	2.24	0.53688	D	0.999978	P	0.43662	0.814	B	0.34452	0.183	T	0.23762	-1.0179	10	0.41790	T	0.15	-6.4327	13.7608	0.62966	0.0:1.0:0.0:0.0	.	55	O15541	R113A_HUMAN	Q	55	ENSP00000360497:R55Q	ENSP00000360497:R55Q	R	-	2	0	RNF113A	118889441	0.993000	0.37304	0.763000	0.31416	0.667000	0.39255	4.605000	0.61119	2.318000	0.78349	0.600000	0.82982	CGA		0.607	RNF113A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058071.1	NM_006978		9	152	0	0	0	1	0	9	152					T	119005413	C	T	119005413	3	4	358	1	0	0	0	0	1	0	0	0	13427	884	31	1	871	1	RNF113A	23	119005413	Missense_Mutation	SNP	C	TCGA-ET-A2MX-01A-11D-A23M-08		119005413	36265147	17	7565											
FLNA	2316	broad.mit.edu	37	chrX	153580679	153580679	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggcccttgtacttcacGctgactgtgtgtgtgcccat	11	12	1	1			TCGA-ET-A2MX-01A-11D-A23M-08	TCGA-ET-A2MX-11C-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6818a84d-3c69-4a28-b435-cc24bc054277	598b09bc-2542-4146-89d3-fdbb1bbe1f60	g.chrX:153580679G>A	ENST00000369850.3	-	41	6875	c.6639C>T	c.(6637-6639)agC>agT	p.S2213S	FLNA_ENST00000422373.1_Silent_p.S2205S|FLNA_ENST00000369856.3_Silent_p.S346S|FLNA_ENST00000360319.4_Silent_p.S2205S|FLNA_ENST00000344736.4_Silent_p.S2173S|FLNA_ENST00000498491.1_5'Flank	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2213					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGTACTTCACGCTGACTGTGT	0.647																																						ENST00000422373.1																			0				breast(6)	6	GRCh37	CD012847	FLNA	D		c.(6613-6615)agC>agT		filamin A, alpha							70	74	72					X																	153580679		2192	4271	6463	SO:0001819	synonymous_variant	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153580679G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.6639C>T	X.37:g.153580679G>A						FLNA_ENST00000369850.3_Silent_p.S2213S|FLNA_ENST00000369856.3_Silent_p.S346S|FLNA_ENST00000360319.4_Silent_p.S2205S|FLNA_ENST00000344736.4_Silent_p.S2173S	p.S2205S	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			40	6863	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		2213					E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.6615C>T	CCDS48194.1																																																																																				0.647	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			4	32	0	0	0	1	0	4	32					A	153580679	G	A	153580679	2	1	358	1	0	0	0	0	0	0	0	1	5933	1078	38	1		1	FLNA	23	153580679	Silent	SNP	G	TCGA-ET-A2MX-01A-11D-A23M-08	34575266	153580679	1689881	18	7566											
CNR2	1269	broad.mit.edu	37	chr1	24201958	24201958	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agatagagcacagccacgttCtccagggcacttagcaggcc	11	13	1	2			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr1:24201958C>G	ENST00000374472.4	-	2	311	c.150G>C	c.(148-150)gaG>gaC	p.E50D	CNR2_ENST00000536471.1_Missense_Mutation_p.E50D	NM_001841.2	NP_001832.1	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	50					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of action potential (GO:0045759)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|response to amphetamine (GO:0001975)|response to lipopolysaccharide (GO:0032496)|sensory perception of pain (GO:0019233)	dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)	p.E50E(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Dronabinol(DB00470)|Nabilone(DB00486)	CAGCCACGTTCTCCAGGGCAC	0.557																																						ENST00000536471.1																			2	Substitution - coding silent(2)	p.E50E(2)	lung(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26						c.(148-150)gaG>gaC		cannabinoid receptor 2 (macrophage)	Nabilone(DB00486)						82	84	84					1																	24201958		2203	4300	6503	SO:0001583	missense	1269				behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity	g.chr1:24201958C>G	X74328	CCDS245.1	1p	2012-08-08			ENSG00000188822	ENSG00000188822		"GPCR / Class A : Cannabinoid receptors"	2160	protein-coding gene	gene with protein product		605051					Standard	NM_001841		Approved	CB2	uc001bif.3	P34972	OTTHUMG00000013892	ENST00000374472.4:c.150G>C	1.37:g.24201958C>G	ENSP00000363596:p.Glu50Asp					CNR2_ENST00000374472.4_Missense_Mutation_p.E50D	p.E50D			P34972	CNR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	3	408	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)	50					C6ES44|Q4VBK8|Q5JRH7|Q6B0G7|Q6NSY0	Missense_Mutation	SNP	ENST00000374472.4	37	c.150G>C	CCDS245.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475427	0.63737	.	.	ENSG00000188822	ENST00000374472;ENST00000536471	T;T	0.37584	1.19;1.19	6.04	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.146462	0.64402	D	0.000011	T	0.61160	0.2325	M	0.82517	2.595	0.45690	D	0.9986	D	0.59357	0.985	D	0.70935	0.971	T	0.65990	-0.6034	10	0.87932	D	0	.	12.5506	0.56223	0.0:0.8666:0.0:0.1334	.	50	P34972	CNR2_HUMAN	D	50	ENSP00000363596:E50D;ENSP00000442830:E50D	ENSP00000363596:E50D	E	-	3	2	CNR2	24074545	1.000000	0.71417	1.000000	0.80357	0.333000	0.28666	2.181000	0.42547	0.893000	0.36288	0.561000	0.74099	GAG		0.557	CNR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038949.1	NM_001841		6	67	0	0	0	0.004482	0	6	67					G	24201958	C	G	24201958	3	3	359	1	0	0	0	0	1	0	0	0	3632	912	32	4	936	4	CNR2	1	24201958	Missense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08		24201958	225048663	1	7567											
JUN	3725	broad.mit.edu	37	chr1	59248693	59248693	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgctctcggacgggaggaacGaggcgttgagggcatcgtca	17	10	2	1			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr1:59248693G>A	ENST00000371222.2	-	1	1092	c.50C>T	c.(49-51)tCg>tTg	p.S17L	RP4-794H19.2_ENST00000419531.2_lincRNA	NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	17					aging (GO:0007568)|angiogenesis (GO:0001525)|axon regeneration (GO:0031103)|cellular response to calcium ion (GO:0071277)|cellular response to potassium ion starvation (GO:0051365)|circadian rhythm (GO:0007623)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leading edge cell differentiation (GO:0035026)|learning (GO:0007612)|liver development (GO:0001889)|membrane depolarization (GO:0051899)|microglial cell activation (GO:0001774)|monocyte differentiation (GO:0030224)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA binding (GO:0043392)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990441)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|SMAD protein import into nucleus (GO:0007184)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nuclear chromosome (GO:0000228)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|R-SMAD binding (GO:0070412)|Rho GTPase activator activity (GO:0005100)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Pseudoephedrine(DB00852)|Vinblastine(DB00570)	CGGGAGGAACGAGGCGTTGAG	0.552			A		sarcoma																																	ENST00000371222.2				Dom	yes		1	1p32-p31	3725	A	jun oncogene			M			sarcoma		0				breast(2)|kidney(2)|lung(5)|skin(1)	10						c.(49-51)tCg>tTg		jun proto-oncogene	Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)						100	109	106					1																	59248693		2203	4300	6503	SO:0001583	missense	3725				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr1:59248693G>A	AY217548	CCDS610.1	1p32-p31	2013-01-10	2010-08-27		ENSG00000177606	ENSG00000177606		"basic leucine zipper proteins"	6204	protein-coding gene	gene with protein product		165160	"v-jun avian sarcoma virus 17 oncogene homolog", "v-jun sarcoma virus 17 oncogene homolog (avian)", "jun oncogene"			3194415	Standard	NM_002228		Approved	c-Jun, AP-1	uc001cze.3	P05412	OTTHUMG00000008376	ENST00000371222.2:c.50C>T	1.37:g.59248693G>A	ENSP00000360266:p.Ser17Leu						p.S17L	NM_002228.3	NP_002219.1	P05412	JUN_HUMAN			1	1092	-	all_cancers(7;8.55e-07)		17					Q6FHM7|Q96G93	Missense_Mutation	SNP	ENST00000371222.2	37	c.50C>T	CCDS610.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.107947	0.37242	.	.	ENSG00000177606	ENST00000371222	T	0.25749	1.78	3.96	3.96	0.45880	Jun-like transcription factor (1);	0.384233	0.21115	U	0.079915	T	0.21145	0.0509	L	0.43152	1.355	0.27523	N	0.951342	P	0.35944	0.529	B	0.29440	0.102	T	0.20974	-1.0259	10	0.66056	D	0.02	-3.7817	13.5506	0.61730	0.0:0.1693:0.8307:0.0	.	17	P05412	JUN_HUMAN	L	17	ENSP00000360266:S17L	ENSP00000360266:S17L	S	-	2	0	JUN	59021281	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	3.874000	0.56101	2.185000	0.69588	0.462000	0.41574	TCG		0.552	JUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023042.1	NM_002228		15	128	0	0	0	0.00245	0	15	128					A	59248693	G	A	59248693	3	1	359	1	0	0	0	0	1	0	0	0	7969	1059	37	1	949	1	JUN	1	59248693	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	35046735	59248693	190001928	2	7568											
FLG2	388698	broad.mit.edu	37	chr1	152325779	152325779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggccagatccccttcttcCagttgtactggaccctctct	8	15	2	1			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr1:152325779C>T	ENST00000388718.5	-	3	4555	c.4483G>A	c.(4483-4485)Gga>Aga	p.G1495R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1495					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)			CCCCTTCTTCCAGTTGTACTG	0.522																																						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.(4483-4485)Gga>Aga		filaggrin family member 2							339	328	332					1																	152325779		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152325779C>T	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.4483G>A	1.37:g.152325779C>T	ENSP00000373370:p.Gly1495Arg					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.G1495R	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4555	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1495					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.4483G>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	c	4.901	0.167426	0.09339	.	.	ENSG00000143520	ENST00000388718	T	0.01767	4.65	2.93	-3.95	0.04118	.	.	.	.	.	T	0.00552	0.0018	M	0.72118	2.19	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.48175	-0.9058	9	0.17369	T	0.5	0.0188	0.7405	0.00973	0.1529:0.2764:0.2083:0.3624	.	1495	Q5D862	FILA2_HUMAN	R	1495	ENSP00000373370:G1495R	ENSP00000373370:G1495R	G	-	1	0	FLG2	150592403	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-2.559000	0.00922	-0.759000	0.04684	0.297000	0.19635	GGA		0.522	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		10	414	0	0	0	0.010729	0	10	414					T	152325779	C	T	152325779	3	4	359	1	0	0	0	0	1	0	0	0	5923	603	21	2	2696	2	FLG2	1	152325779	Missense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	93077086	152325779	96924842	3	7569											
ABL2	27	broad.mit.edu	37	chr1	179077163	179077163	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctttgctgattttgtctgctGagattttctcagcggcctgt	10	9	2	2			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr1:179077163G>C	ENST00000502732.1	-	12	3442	c.3239C>G	c.(3238-3240)tCa>tGa	p.S1080*	ABL2_ENST00000507173.1_Nonsense_Mutation_p.S956*|ABL2_ENST00000511413.1_Nonsense_Mutation_p.S977*|ABL2_ENST00000504405.1_Nonsense_Mutation_p.S941*|ABL2_ENST00000408940.3_Nonsense_Mutation_p.S1044*|ABL2_ENST00000344730.3_Nonsense_Mutation_p.S962*|ABL2_ENST00000367623.4_Nonsense_Mutation_p.S1059*|ABL2_ENST00000512653.1_Nonsense_Mutation_p.S1065*	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	1080	F-actin-binding. {ECO:0000250}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TTTGTCTGCTGAGATTTTCTC	0.532			T	ETV6	AML																																	ENST00000502732.1				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65						c.(3238-3240)tCa>tGa		c-abl oncogene 2, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						54	51	52					1																	179077163		2203	4300	6503	SO:0001587	stop_gained	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179077163G>C	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"SH2 domain containing"	77	protein-coding gene	gene with protein product	"Abelson-related gene"	164690	"v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)", "v-abl Abelson murine leukemia viral oncogene homolog 2", "c-abl oncogene 2, non-receptor tyrosine kinase"	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.3239C>G	1.37:g.179077163G>C	ENSP00000427562:p.Ser1080*					ABL2_ENST00000504405.1_Nonsense_Mutation_p.S941*|ABL2_ENST00000344730.3_Nonsense_Mutation_p.S962*|ABL2_ENST00000512653.1_Nonsense_Mutation_p.S1065*|ABL2_ENST00000408940.3_Nonsense_Mutation_p.S1044*|ABL2_ENST00000511413.1_Nonsense_Mutation_p.S977*|ABL2_ENST00000367623.4_Nonsense_Mutation_p.S1059*|ABL2_ENST00000507173.1_Nonsense_Mutation_p.S956*	p.S1080*	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN			12	3442	-			1080			F-actin-binding (By similarity).		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Nonsense_Mutation	SNP	ENST00000502732.1	37	c.3239C>G	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	G	37	6.210778	0.97380	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413	.	.	.	5.35	5.35	0.76521	.	0.201841	0.26029	N	0.026771	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.4316	0.90627	0.0:0.0:1.0:0.0	.	.	.	.	X	1080;1044;962;1065;941;1059;956;977	.	ENSP00000339209:S962X	S	-	2	0	ABL2	177343786	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	9.428000	0.97476	2.655000	0.90218	0.655000	0.94253	TCA		0.532	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		8	37	0	0	0	0.00308	0	8	37					C	179077163	G	C	179077163	4	2	359	1	0	0	0	0	0	1	0	0	93	1294	45	4	313	4	ABL2	1	179077163	Nonsense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	26751384	179077163	70173458	4	7570											
ABL2	27	broad.mit.edu	37	chr1	179077269	179077269	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agatgtgggcagaggcacttGaggtggaggcatcactggcc	17	8	1	3			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr1:179077269G>A	ENST00000502732.1	-	12	3336	c.3133C>T	c.(3133-3135)Caa>Taa	p.Q1045*	ABL2_ENST00000507173.1_Nonsense_Mutation_p.Q921*|ABL2_ENST00000511413.1_Nonsense_Mutation_p.Q942*|ABL2_ENST00000504405.1_Nonsense_Mutation_p.Q906*|ABL2_ENST00000408940.3_Nonsense_Mutation_p.Q1009*|ABL2_ENST00000344730.3_Nonsense_Mutation_p.Q927*|ABL2_ENST00000367623.4_Nonsense_Mutation_p.Q1024*|ABL2_ENST00000512653.1_Nonsense_Mutation_p.Q1030*	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	1045	F-actin-binding. {ECO:0000250}.|Pro-rich.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	AGAGGCACTTGAGGTGGAGGC	0.552			T	ETV6	AML																																	ENST00000502732.1				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65						c.(3133-3135)Caa>Taa		c-abl oncogene 2, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						85	81	82					1																	179077269		2203	4300	6503	SO:0001587	stop_gained	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179077269G>A	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"SH2 domain containing"	77	protein-coding gene	gene with protein product	"Abelson-related gene"	164690	"v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)", "v-abl Abelson murine leukemia viral oncogene homolog 2", "c-abl oncogene 2, non-receptor tyrosine kinase"	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.3133C>T	1.37:g.179077269G>A	ENSP00000427562:p.Gln1045*					ABL2_ENST00000504405.1_Nonsense_Mutation_p.Q906*|ABL2_ENST00000344730.3_Nonsense_Mutation_p.Q927*|ABL2_ENST00000512653.1_Nonsense_Mutation_p.Q1030*|ABL2_ENST00000408940.3_Nonsense_Mutation_p.Q1009*|ABL2_ENST00000511413.1_Nonsense_Mutation_p.Q942*|ABL2_ENST00000367623.4_Nonsense_Mutation_p.Q1024*|ABL2_ENST00000507173.1_Nonsense_Mutation_p.Q921*	p.Q1045*	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN			12	3336	-			1045			F-actin-binding (By similarity).|Pro-rich.		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Nonsense_Mutation	SNP	ENST00000502732.1	37	c.3133C>T	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	G	37	6.018564	0.97205	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413	.	.	.	5.35	5.35	0.76521	.	0.000000	0.50627	D	0.000106	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	18.4316	0.90627	0.0:0.0:1.0:0.0	.	.	.	.	X	1045;1009;927;1030;906;1024;921;942	.	ENSP00000339209:Q927X	Q	-	1	0	ABL2	177343892	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.055000	0.93873	2.655000	0.90218	0.655000	0.94253	CAA		0.552	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		10	91	0	0	0	0.006214	0	10	91					A	179077269	G	A	179077269	4	1	359	1	0	0	0	0	0	1	0	0	93	1299	45	2	419	2	ABL2	1	179077269	Nonsense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	106	179077269	70173352	5	7571											
RNF2	6045	broad.mit.edu	37	chr1	185060797	185060797	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccaatttgtttggatatgttGaagaacaccatgactacaaa	7	7	0	3	rs144442502		TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr1:185060797G>C	ENST00000367510.3	+	3	462	c.174G>C	c.(172-174)ttG>ttC	p.L58F	RNF2_ENST00000367509.4_Missense_Mutation_p.L58F	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	58	Interaction with HIP2.				anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		TGGATATGTTGAAGAACACCA	0.388																																						ENST00000367510.3																			0				breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14						c.(172-174)ttG>ttC		ring finger protein 2							201	182	188					1																	185060797		2203	4300	6503	SO:0001583	missense	6045				histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding	g.chr1:185060797G>C	BC012583, Y10571	CCDS1365.1	1q25.3	2013-01-09			ENSG00000121481	ENSG00000121481		"RING-type (C3HC4) zinc fingers"	10061	protein-coding gene	gene with protein product		608985				11513855	Standard	XM_005245413		Approved	BAP-1, BAP1, DING, HIPI3, RING1B, RING2	uc001grc.1	Q99496	OTTHUMG00000035391	ENST00000367510.3:c.174G>C	1.37:g.185060797G>C	ENSP00000356480:p.Leu58Phe					RNF2_ENST00000367509.4_Missense_Mutation_p.L58F	p.L58F	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)	3	462	+		Breast(1374;0.000496)	58			Interaction with HIP2.		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000367510.3	37	c.174G>C	CCDS1365.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747391	0.69533	.	.	ENSG00000121481	ENST00000367510;ENST00000367509;ENST00000453650	T;T;T	0.67523	-0.27;-0.27;-0.27	4.66	2.73	0.32206	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.64193	0.2576	N	0.21448	0.665	0.80722	D	1	P;D	0.89917	0.935;1.0	P;D	0.85130	0.78;0.997	T	0.57636	-0.7777	10	0.18710	T	0.47	-21.6729	7.0145	0.24881	0.219:0.1269:0.654:0.0	.	58;58	B3KRH1;Q99496	.;RING2_HUMAN	F	58	ENSP00000356480:L58F;ENSP00000356479:L58F;ENSP00000400722:L58F	ENSP00000356479:L58F	L	+	3	2	RNF2	183327420	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.009000	0.49552	0.482000	0.27582	0.650000	0.86243	TTG		0.388	RNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085793.1	NM_007212		7	141	0	0	0	0.001984	0	7	141					C	185060797	G	C	185060797	3	2	359	1	0	0	0	0	1	0	0	0	13472	1281	45	4	180	4	RNF2	1	185060797	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	5983528	185060797	64189824	6	7572											
CACNA1S	779	broad.mit.edu	37	chr1	201009764	201009764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgttacctggcagggggcagGaggtgcctggcctctgggca	18	10	1	0			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr1:201009764G>A	ENST00000362061.3	-	42	5438	c.5212C>T	c.(5212-5214)Cct>Tct	p.P1738S	CACNA1S_ENST00000367338.3_Missense_Mutation_p.P1719S|RP11-168O16.2_ENST00000415359.1_RNA	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1738					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CAGGGGGCAGGAGGTGCCTGG	0.607																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(5212-5214)Cct>Tct		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						51	47	48					1																	201009764		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201009764G>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.5212C>T	1.37:g.201009764G>A	ENSP00000355192:p.Pro1738Ser					CACNA1S_ENST00000367338.3_Missense_Mutation_p.P1719S|RP11-168O16.2_ENST00000415359.1_RNA	p.P1738S	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			42	5438	-			1738					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.5212C>T	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	.	9.671	1.146603	0.21288	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.95724	-3.79;-3.73	4.47	-2.5	0.06384	.	7739.210000	0.00166	N	0.000000	D	0.88555	0.6468	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.78532	-0.2168	10	0.18276	T	0.48	.	1.3938	0.02256	0.1291:0.3207:0.2247:0.3255	.	1738	Q13698	CAC1S_HUMAN	S	1738;1719	ENSP00000355192:P1738S;ENSP00000356307:P1719S	ENSP00000355192:P1738S	P	-	1	0	CACNA1S	199276387	0.078000	0.21339	0.002000	0.10522	0.119000	0.20118	0.608000	0.24223	-0.011000	0.14247	0.585000	0.79938	CCT		0.607	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		4	57	0	0	0	0.000602	0	4	57					A	201009764	G	A	201009764	3	1	359	1	0	0	0	0	1	0	0	0	2547	1174	41	2	421	2	CACNA1S	1	201009764	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	15948967	201009764	48240857	7	7573											
DTNB	1838	broad.mit.edu	37	chr2	25754346	25754346	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggggtatacttacactaTatgtgcaaggtcaagtggtt	11	7	1	0	rs369472992		TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr2:25754346T>C	ENST00000406818.3	-	9	1246	c.997A>G	c.(997-999)Ata>Gta	p.I333V	DTNB_ENST00000407038.3_Missense_Mutation_p.I333V|DTNB_ENST00000496972.2_Missense_Mutation_p.I276V|DTNB_ENST00000405222.1_Missense_Mutation_p.I333V|DTNB_ENST00000545439.1_Missense_Mutation_p.I129V|DTNB_ENST00000288642.8_Missense_Mutation_p.I333V|DTNB_ENST00000407661.3_Missense_Mutation_p.I333V|DTNB_ENST00000407186.1_Missense_Mutation_p.I333V|DTNB_ENST00000404103.3_Missense_Mutation_p.I333V	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	333						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTTACACTATATGTGCAAGG	0.468																																						ENST00000406818.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11						c.(997-999)Ata>Gta		dystrobrevin, beta		T	VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE	0,3768		0,0,1884	152	148	149		997,997,997,997,997	4.0	1.0	2		149	1,8211		0,1,4105	no	missense,missense,missense,missense,missense	DTNB	NM_021907.3,NM_033147.2,NM_033148.2,NM_183360.1,NM_183361.1	29,29,29,29,29	0,1,5989	CC,CT,TT		0.0122,0.0,0.0083	benign,benign,benign,benign,benign	333/628,333/598,333/568,333/610,333/561	25754346	1,11979	1884	4106	5990	SO:0001583	missense	1838					cytoplasm	calcium ion binding|zinc ion binding	g.chr2:25754346T>C	AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.997A>G	2.37:g.25754346T>C	ENSP00000384084:p.Ile333Val					DTNB_ENST00000545439.1_Missense_Mutation_p.I129V|DTNB_ENST00000288642.8_Missense_Mutation_p.I333V|DTNB_ENST00000405222.1_Missense_Mutation_p.I333V|DTNB_ENST00000407661.3_Missense_Mutation_p.I333V|DTNB_ENST00000407038.3_Missense_Mutation_p.I333V|DTNB_ENST00000407186.1_Missense_Mutation_p.I333V|DTNB_ENST00000496972.2_Missense_Mutation_p.I276V|DTNB_ENST00000404103.3_Missense_Mutation_p.I333V	p.I333V	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN			9	1246	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		333					B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Missense_Mutation	SNP	ENST00000406818.3	37	c.997A>G	CCDS46237.1	.	.	.	.	.	.	.	.	.	.	T	13.65	2.301170	0.40694	0.0	1.22E-4	ENSG00000138101	ENST00000496972;ENST00000406818;ENST00000404103;ENST00000407661;ENST00000407038;ENST00000405222;ENST00000407186;ENST00000288642;ENST00000545439;ENST00000535791	T;T;T;T;T;T;T;T;T	0.48201	2.18;2.2;2.18;2.21;2.18;2.18;2.18;2.17;0.82	5.15	3.97	0.46021	.	0.188712	0.53938	D	0.000041	T	0.42040	0.1185	L	0.55481	1.735	0.34188	D	0.671722	B;B;B;B;B;B;B;B;B;B;B;B	0.19583	0.0;0.002;0.001;0.037;0.003;0.001;0.003;0.002;0.004;0.0;0.005;0.001	B;B;B;B;B;B;B;B;B;B;B;B	0.22880	0.019;0.005;0.012;0.042;0.011;0.005;0.014;0.011;0.018;0.019;0.015;0.005	T	0.49244	-0.8960	10	0.33141	T	0.24	.	10.5591	0.45135	0.0:0.0:0.1617:0.8383	.	333;129;276;333;333;276;333;333;333;333;333;333	E7EVB6;B7Z202;F5GZG4;O60941-3;B7Z6A9;B7Z733;E9PEY4;Q96AW0;O60941-2;O60941-4;G5E9F6;O60941	.;.;.;.;.;.;.;.;.;.;.;DTNB_HUMAN	V	276;333;333;333;333;333;333;333;129;186	ENSP00000444463:I276V;ENSP00000384084:I333V;ENSP00000385482:I333V;ENSP00000385193:I333V;ENSP00000384767:I333V;ENSP00000384787:I333V;ENSP00000385784:I333V;ENSP00000288642:I333V;ENSP00000444961:I129V	ENSP00000288642:I333V	I	-	1	0	DTNB	25607850	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	4.936000	0.63506	0.755000	0.32990	0.383000	0.25322	ATA		0.468	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325361.1	NM_033147		69	57	0	0	0	0.01441	0	69	57					C	25754346	T	C	25754346	3	2	359	1	0	0	0	0	1	0	0	0	4789	1406	49	3	934	3	DTNB	2	25754346	Missense_Mutation	SNP	T	TCGA-ET-A2MY-01A-11D-A18F-08		25754346	217445027	8	7574											
ZNF512	84450	broad.mit.edu	37	chr2	27822493	27822493	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaaaaggaaacccaggcaGgaagaagatgaagactatcg	14	6	0	4	rs370685691		TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr2:27822493G>A	ENST00000355467.4	+	4	404	c.321G>A	c.(319-321)caG>caA	p.Q107Q	ZNF512_ENST00000556601.1_Missense_Mutation_p.R18K|ZNF512_ENST00000494548.1_3'UTR|ZNF512_ENST00000416005.2_Silent_p.Q106Q|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_Silent_p.Q106Q|ZNF512_ENST00000413371.2_Silent_p.Q30Q	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512	107					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)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					AACCCAGGCAGGAAGAAGATG	0.408																																						ENST00000556601.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(52-54)aGg>aAg		zinc finger protein 512							128	127	128					2																	27822493		2203	4300	6503	SO:0001819	synonymous_variant	84450				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:27822493G>A	AL833748	CCDS1758.1, CCDS59428.1, CCDS59429.1	2p23	2008-02-05			ENSG00000243943	ENSG00000243943		"Zinc fingers, C2H2-type"	29380	protein-coding gene	gene with protein product						11347906	Standard	NM_032434		Approved	KIAA1805	uc002rla.4	Q96ME7	OTTHUMG00000097786	ENST00000355467.4:c.321G>A	2.37:g.27822493G>A						ZNF512_ENST00000494548.1_3'UTR|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000413371.2_Silent_p.Q30Q|ZNF512_ENST00000416005.2_Silent_p.Q106Q|ZNF512_ENST00000379717.1_Silent_p.Q106Q|ZNF512_ENST00000355467.4_Silent_p.Q107Q	p.R18K			Q96ME7	ZN512_HUMAN			3	329	+	Acute lymphoblastic leukemia(172;0.155)		0					B4DSM5|Q53RZ7|Q86XK6|Q96JM0	Missense_Mutation	SNP	ENST00000355467.4	37	c.53G>A	CCDS1758.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.411903	0.62511	.	.	ENSG00000243943	ENST00000556601	.	.	.	5.33	3.51	0.40186	.	.	.	.	.	T	0.32704	0.0838	.	.	.	0.19945	N	0.999946	.	.	.	.	.	.	T	0.19712	-1.0297	4	.	.	.	-10.1483	6.1544	0.20330	0.1536:0.1571:0.6894:0.0	.	.	.	.	K	18	.	.	R	+	2	0	ZNF512	27675997	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.491000	0.22419	0.801000	0.34066	0.655000	0.94253	AGG		0.408	ZNF512-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215029.2	NM_032434		4	49	0	0	0	0.009096	0	4	49					A	27822493	G	A	27822493	2	1	359	1	0	0	0	0	0	0	0	1	17953	991	35	2		2	ZNF512	2	27822493	Silent	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	2068147	27822493	215376880	9	7575											
ERLEC1	27248	broad.mit.edu	37	chr2	54014378	54014378	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gaggcggcggcgtacggagtCtggtcccgggcgggccggtg	22	11	1	0			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr2:54014378C>G	ENST00000185150.4	+	1	162	c.31C>G	c.(31-33)Ctg>Gtg	p.L11V	ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|GPR75-ASB3_ENST00000406687.1_5'Flank|GPR75-ASB3_ENST00000263634.3_5'Flank|GPR75-ASB3_ENST00000394717.2_5'Flank|ERLEC1_ENST00000378239.5_Missense_Mutation_p.L11V|ERLEC1_ENST00000494373.1_3'UTR|ERLEC1_ENST00000405123.3_Missense_Mutation_p.L11V	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	11					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	glycoprotein binding (GO:0001948)			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						CGTACGGAGTCTGGTCCCGGG	0.692																																						ENST00000185150.4																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						c.(31-33)Ctg>Gtg		endoplasmic reticulum lectin 1							35	43	40					2																	54014378		2202	4299	6501	SO:0001583	missense	27248				ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding	g.chr2:54014378C>G	AF131849	CCDS1848.1, CCDS46283.1, CCDS46284.1	2p16	2010-03-19	2009-08-26	2009-08-26	ENSG00000068912	ENSG00000068912			25222	protein-coding gene	gene with protein product	"erlectin 1"	611229	"chromosome 2 open reading frame 30"	C2orf30		9110174, 8619474, 16531414, 18264092	Standard	NM_015701		Approved	CL25084, XTP3TPB, XTP3-B, ERLECTIN	uc002rxl.3	Q96DZ1	OTTHUMG00000129281	ENST00000185150.4:c.31C>G	2.37:g.54014378C>G	ENSP00000185150:p.Leu11Val					ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ERLEC1_ENST00000494373.1_3'UTR|ERLEC1_ENST00000405123.3_Missense_Mutation_p.L11V|ERLEC1_ENST00000378239.5_Missense_Mutation_p.L11V|ASB3_ENST00000498475.2_Intron	p.L11V	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN			1	162	+			11					B2RDB4|B5MC72|O95901|Q6UWN7|Q9NUY7|Q9UQL4	Missense_Mutation	SNP	ENST00000185150.4	37	c.31C>G	CCDS1848.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.014463	0.35511	.	.	ENSG00000068912	ENST00000405123;ENST00000185150;ENST00000378239	T;T	0.44482	0.92;0.92	4.5	4.5	0.54988	.	0.736301	0.11836	N	0.524782	T	0.37625	0.1010	.	.	.	0.26563	N	0.973701	B;B;B	0.25486	0.079;0.127;0.127	B;B;B	0.29353	0.101;0.047;0.047	T	0.30621	-0.9972	9	0.52906	T	0.07	-0.0492	13.1953	0.59734	0.0:0.791:0.209:0.0	.	11;11;11	Q96DZ1-2;B5MC72;Q96DZ1	.;.;ERLEC_HUMAN	V	11	ENSP00000385629:L11V;ENSP00000185150:L11V	ENSP00000185150:L11V	L	+	1	2	ERLEC1	53867882	.	.	0.924000	0.36721	0.050000	0.14768	.	.	2.312000	0.78011	0.555000	0.69702	CTG		0.692	ERLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251404.1	NM_015701		11	43	0	0	0	0.008291	0	11	43					G	54014378	C	G	54014378	3	3	359	1	0	0	0	0	1	0	0	0	5231	912	32	4	33	4	ERLEC1	2	54014378	Missense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	26191885	54014378	189184995	10	7576			1	13		2	2	33	C		7.649092e-05
ERLEC1	27248	broad.mit.edu	37	chr2	54014410	54014410	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggccggtgttactggtcctCtgcggcctcctggaggcgtc	16	13	1	0			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr2:54014410C>T	ENST00000185150.4	+	1	194	c.63C>T	c.(61-63)ctC>ctT	p.L21L	ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|GPR75-ASB3_ENST00000406687.1_5'Flank|GPR75-ASB3_ENST00000263634.3_5'Flank|GPR75-ASB3_ENST00000394717.2_5'Flank|ERLEC1_ENST00000378239.5_Silent_p.L21L|ERLEC1_ENST00000494373.1_3'UTR|ERLEC1_ENST00000405123.3_Silent_p.L21L	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	21					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	glycoprotein binding (GO:0001948)			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						TACTGGTCCTCTGCGGCCTCC	0.687																																						ENST00000185150.4																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						c.(61-63)ctC>ctT		endoplasmic reticulum lectin 1							42	50	47					2																	54014410		2203	4299	6502	SO:0001819	synonymous_variant	27248				ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding	g.chr2:54014410C>T	AF131849	CCDS1848.1, CCDS46283.1, CCDS46284.1	2p16	2010-03-19	2009-08-26	2009-08-26	ENSG00000068912	ENSG00000068912			25222	protein-coding gene	gene with protein product	"erlectin 1"	611229	"chromosome 2 open reading frame 30"	C2orf30		9110174, 8619474, 16531414, 18264092	Standard	NM_015701		Approved	CL25084, XTP3TPB, XTP3-B, ERLECTIN	uc002rxl.3	Q96DZ1	OTTHUMG00000129281	ENST00000185150.4:c.63C>T	2.37:g.54014410C>T						ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ERLEC1_ENST00000494373.1_3'UTR|ERLEC1_ENST00000405123.3_Silent_p.L21L|ERLEC1_ENST00000378239.5_Silent_p.L21L|ASB3_ENST00000498475.2_Intron	p.L21L	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN			1	194	+			21					B2RDB4|B5MC72|O95901|Q6UWN7|Q9NUY7|Q9UQL4	Silent	SNP	ENST00000185150.4	37	c.63C>T	CCDS1848.1																																																																																				0.687	ERLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251404.1	NM_015701		14	64	0	0	0	0.00245	0	14	64					T	54014410	C	T	54014410	2	4	359	1	0	0	0	0	0	0	0	1	5231	900	32	2		2	ERLEC1	2	54014410	Silent	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	32	54014410	189184963	11	7577			1	13		2	2	33	C		7.649092e-05
RIF1	55183	broad.mit.edu	37	chr2	152320159	152320159	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaaactaatactgtagaggaGaaaaatgtagaaattaattt	8	2	0	3			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr2:152320159G>A	ENST00000243326.5	+	29	4608	c.4125G>A	c.(4123-4125)gaG>gaA	p.E1375E	RIF1_ENST00000428287.2_Silent_p.E1375E|RIF1_ENST00000453091.2_Silent_p.E1375E|RIF1_ENST00000430328.2_Silent_p.E1375E|RIF1_ENST00000444746.2_Silent_p.E1375E			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CTGTAGAGGAGAAAAATGTAG	0.353																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(4123-4125)gaG>gaA		RAP1 interacting factor homolog (yeast)							71	77	75					2																	152320159		2203	4300	6503	SO:0001819	synonymous_variant	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152320159G>A	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"RAP1 interacting factor homolog (yeast)"			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.4125G>A	2.37:g.152320159G>A						RIF1_ENST00000430328.2_Silent_p.E1375E|RIF1_ENST00000444746.2_Silent_p.E1375E|RIF1_ENST00000453091.2_Silent_p.E1375E|RIF1_ENST00000428287.2_Silent_p.E1375E	p.E1375E			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	29	4608	+			1375					A0AVS0|Q9NS16	Silent	SNP	ENST00000243326.5	37	c.4125G>A	CCDS2194.1																																																																																				0.353	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			18	54	0	0	0	0.00499	0	18	54					A	152320159	G	A	152320159	2	1	359	1	0	0	0	0	0	0	0	1	13359	933	33	2		2	RIF1	2	152320159	Silent	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	98305749	152320159	90879214	12	7578											
FAP	2191	broad.mit.edu	37	chr2	163039925	163039925	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaaatataaaacaactcaccCagccccatatggctattctt	3	12	2	0			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr2:163039925C>G	ENST00000188790.4	-	21	2075	c.1868G>C	c.(1867-1869)tGg>tCg	p.W623S	FAP_ENST00000443424.1_Splice_Site_p.W598S	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						ACAACTCACCCAGCCCCATAT	0.303																																						ENST00000188790.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						c.e21+1		fibroblast activation protein, alpha							87	95	93					2																	163039925		2203	4299	6502	SO:0001630	splice_region_variant	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163039925C>G	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"seprase"	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1869+1G>C	2.37:g.163039925C>G						FAP_ENST00000443424.1_Splice_Site_p.W598_splice	p.W623_splice	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN			21	2075	-			623						Splice_Site	SNP	ENST00000188790.4	37	c.1869_splice	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.823754	0.71143	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	T;T	0.42131	0.98;0.98	5.59	5.59	0.84812	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.77485	0.4137	H	0.96460	3.825	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.84190	0.0444	10	0.72032	D	0.01	-23.6485	19.9507	0.97198	0.0:1.0:0.0:0.0	.	598;102;623	B4DLR2;Q12884-2;Q12884	.;.;SEPR_HUMAN	S	623;598	ENSP00000188790:W623S;ENSP00000411391:W598S	ENSP00000188790:W623S	W	-	2	0	FAP	162748171	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.309000	0.78937	2.763000	0.94921	0.655000	0.94253	TGG		0.303	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2		Missense_Mutation	3	108	0	0	0	0.009096	0	3	108					G	163039925	C	G	163039925	5	3	359	1	0	0	0	0	0	0	1	0	5673	608	21	4	438	4	FAP	2	163039925	Splice_Site	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	10719766	163039925	80159448	13	7579											
PPIG	9360	broad.mit.edu	37	chr2	170493789	170493789	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagtcgtgatcataatagctCaaataacagcagggaaaaaa	8	6	2	1			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr2:170493789C>T	ENST00000260970.3	+	14	2241	c.2021C>T	c.(2020-2022)tCa>tTa	p.S674L	PPIG_ENST00000448752.2_Missense_Mutation_p.S674L|PPIG_ENST00000409714.3_Missense_Mutation_p.S659L	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	674					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	CATAATAGCTCAAATAACAGC	0.348																																						ENST00000260970.3																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43						c.(2020-2022)tCa>tTa		peptidylprolyl isomerase G (cyclophilin G)	L-Proline(DB00172)						69	73	72					2																	170493789		2203	4300	6503	SO:0001583	missense	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170493789C>T	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"SR-related CTD-associated factor 10"	606093	"peptidyl-prolyl isomerase G (cyclophilin G)"			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.2021C>T	2.37:g.170493789C>T	ENSP00000260970:p.Ser674Leu					PPIG_ENST00000409714.3_Missense_Mutation_p.S659L|PPIG_ENST00000448752.2_Missense_Mutation_p.S674L	p.S674L	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN			14	2241	+			674					D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	ENST00000260970.3	37	c.2021C>T	CCDS2235.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917384	0.52546	.	.	ENSG00000138398	ENST00000260970;ENST00000409714;ENST00000448752	T;T;T	0.16597	2.33;2.33;2.33	5.76	4.84	0.62591	.	0.648698	0.15601	N	0.253911	T	0.12178	0.0296	N	0.08118	0	0.33066	D	0.534732	B;B;B	0.19817	0.039;0.039;0.039	B;B;B	0.17433	0.018;0.018;0.018	T	0.13415	-1.0510	10	0.72032	D	0.01	-0.1778	18.4394	0.90660	0.0:0.8724:0.1276:0.0	.	659;659;674	E9PG73;Q2NKQ6;Q13427	.;.;PPIG_HUMAN	L	674;659;674	ENSP00000260970:S674L;ENSP00000386245:S659L;ENSP00000407083:S674L	ENSP00000260970:S674L	S	+	2	0	PPIG	170202035	1.000000	0.71417	0.997000	0.53966	0.829000	0.46940	3.781000	0.55394	2.724000	0.93272	0.491000	0.48974	TCA		0.348	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			16	51	0	0	0	0.00499	0	16	51					T	170493789	C	T	170493789	3	4	359	1	0	0	0	0	1	0	0	0	12324	838	29	2	2067	2	PPIG	2	170493789	Missense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	7453864	170493789	72705584	14	7580											
ATG9A	79065	broad.mit.edu	37	chr2	220089873	220089873	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagatgaacttgataagccGgtggatccagaagacaccag	11	8	0	5			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr2:220089873G>A	ENST00000409618.1	-	7	875	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W	ATG9A_ENST00000396761.2_Missense_Mutation_p.R146W|ATG9A_ENST00000361242.4_Missense_Mutation_p.R146W|AC068946.1_ENST00000408417.1_RNA|ATG9A_ENST00000488833.1_5'Flank|ATG9A_ENST00000409422.1_Missense_Mutation_p.R85W			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	146					autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGATAAGCCGGTGGATCCAG	0.522																																						ENST00000409618.1																			0				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13						c.(436-438)Cgg>Tgg		autophagy related 9A							120	122	121					2																	220089873		1925	4155	6080	SO:0001583	missense	79065				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane		g.chr2:220089873G>A	AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"APG9 autophagy 9-like 1 (S. cerevisiae)", "ATG9 autophagy related 9 homolog A (S. cerevisiae)"	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.436C>T	2.37:g.220089873G>A	ENSP00000386710:p.Arg146Trp					ATG9A_ENST00000396761.2_Missense_Mutation_p.R146W|ATG9A_ENST00000409422.1_Missense_Mutation_p.R85W|ATG9A_ENST00000361242.4_Missense_Mutation_p.R146W	p.R146W			Q7Z3C6	ATG9A_HUMAN		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	875	-		Renal(207;0.0474)	146					Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Missense_Mutation	SNP	ENST00000409618.1	37	c.436C>T	CCDS42820.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932657	0.73442	.	.	ENSG00000198925	ENST00000396761;ENST00000409618;ENST00000361242;ENST00000409422;ENST00000431715;ENST00000436856;ENST00000457841;ENST00000428226	T;T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07;2.07	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.49423	0.1556	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.54589	-0.8271	10	0.87932	D	0	.	15.0243	0.71656	0.0:0.0:0.8576:0.1424	.	146	Q7Z3C6	ATG9A_HUMAN	W	146;146;146;85;50;146;146;146	ENSP00000379983:R146W;ENSP00000386710:R146W;ENSP00000355173:R146W;ENSP00000386535:R85W;ENSP00000401530:R146W;ENSP00000404750:R146W;ENSP00000409164:R146W	ENSP00000355173:R146W	R	-	1	2	ATG9A	219798117	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.781000	0.85668	2.608000	0.88229	0.655000	0.94253	CGG		0.522	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335930.1	NM_024085		4	93	0	0	0	0.009096	0	4	93					A	220089873	G	A	220089873	3	1	359	1	0	0	0	0	1	0	0	0	1102	1115	39	1	2123	1	ATG9A	2	220089873	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	49596084	220089873	23109500	15	7581											
NGEF	25791	broad.mit.edu	37	chr2	233757743	233757743	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttctcctccatccggtgcTccagctccaggaggaaccta	9	15	1	0			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr2:233757743T>C	ENST00000264051.3	-	7	1285	c.1007A>G	c.(1006-1008)gAg>gGg	p.E336G	NGEF_ENST00000539537.1_Missense_Mutation_p.E59G|NGEF_ENST00000373552.4_Missense_Mutation_p.E244G	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	336	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		CATCCGGTGCTCCAGCTCCAG	0.592																																						ENST00000264051.3																			0				central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35						c.(1006-1008)gAg>gGg		neuronal guanine nucleotide exchange factor							119	96	104					2																	233757743		2203	4299	6502	SO:0001583	missense	25791				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr2:233757743T>C	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"Rho guanine nucleotide exchange factors"	7807	protein-coding gene	gene with protein product	"ephexin"	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.1007A>G	2.37:g.233757743T>C	ENSP00000264051:p.Glu336Gly					NGEF_ENST00000373552.4_Missense_Mutation_p.E244G|NGEF_ENST00000539537.1_Missense_Mutation_p.E59G	p.E336G	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)	7	1285	-		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	336			DH.		B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	ENST00000264051.3	37	c.1007A>G	CCDS2500.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.816169	0.90790	.	.	ENSG00000066248	ENST00000264051;ENST00000373552;ENST00000541023;ENST00000539537;ENST00000416114;ENST00000458735	T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34	5.14	5.14	0.70334	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.84188	0.5417	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;0.98	D;P	0.83275	0.996;0.757	D	0.87613	0.2505	10	0.87932	D	0	-32.7023	14.9605	0.71153	0.0:0.0:0.0:1.0	.	244;336	E9PC42;Q8N5V2	.;NGEF_HUMAN	G	336;244;226;59;59;59	ENSP00000264051:E336G;ENSP00000362653:E244G;ENSP00000439035:E59G;ENSP00000401063:E59G;ENSP00000412614:E59G	ENSP00000264051:E336G	E	-	2	0	NGEF	233465987	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.625000	0.83145	1.941000	0.56285	0.533000	0.62120	GAG		0.592	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		3	63	0	0	0	0.000602	0	3	63					C	233757743	T	C	233757743	3	2	359	1	0	0	0	0	1	0	0	0	10394	1551	54	3	1161	3	NGEF	2	233757743	Missense_Mutation	SNP	T	TCGA-ET-A2MY-01A-11D-A18F-08	13667870	233757743	9441630	16	7582											
NCKIPSD	51517	broad.mit.edu	37	chr3	48716069	48716069	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gccatcatgtctgtgtggtaGaagatggcagctgtggccgg	16	8	2	2			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr3:48716069G>C	ENST00000294129.2	-	12	2012	c.1893C>G	c.(1891-1893)ttC>ttG	p.F631L	NCKIPSD_ENST00000341520.4_Missense_Mutation_p.F631L|NCKIPSD_ENST00000416649.2_Missense_Mutation_p.F624L	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	631					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|NLS-bearing protein import into nucleus (GO:0006607)|signal transduction (GO:0007165)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	cytoskeletal protein binding (GO:0008092)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTGTGTGGTAGAAGATGGCAG	0.582																																						ENST00000294129.2																			0				endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11						c.(1891-1893)ttC>ttG		NCK interacting protein with SH3 domain							130	121	124					3																	48716069		2203	4300	6503	SO:0001583	missense	51517				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding	g.chr3:48716069G>C	AF178432	CCDS2776.1, CCDS46827.1	3p21	2008-07-18			ENSG00000213672	ENSG00000213672			15486	protein-coding gene	gene with protein product	"dia interacting protein", "diaphanous protein interacting protein", "SH3 protein interacting with Nck, 90 kDa"	606671				10648423, 10619843	Standard	NM_016453		Approved	AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1	uc003cun.3	Q9NZQ3	OTTHUMG00000133542	ENST00000294129.2:c.1893C>G	3.37:g.48716069G>C	ENSP00000294129:p.Phe631Leu					NCKIPSD_ENST00000341520.4_Missense_Mutation_p.F631L|NCKIPSD_ENST00000416649.2_Missense_Mutation_p.F624L	p.F631L	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	12	2012	-			631					B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	Missense_Mutation	SNP	ENST00000294129.2	37	c.1893C>G	CCDS2776.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182445	0.78677	.	.	ENSG00000213672	ENST00000341520;ENST00000416649;ENST00000294129;ENST00000413374	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.37	4.3	0.51218	Domain of unknown function DUF2013 (1);	0.000000	0.85682	U	0.000000	T	0.72882	0.3516	M	0.86097	2.795	0.54753	D	0.999987	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.996	T	0.76769	-0.2837	10	0.72032	D	0.01	.	11.4808	0.50324	0.1557:0.0:0.8443:0.0	.	631;624	Q9NZQ3;Q9NZQ3-3	SPN90_HUMAN;.	L	631;624;631;87	ENSP00000342621:F631L;ENSP00000389059:F624L;ENSP00000294129:F631L;ENSP00000396683:F87L	ENSP00000294129:F631L	F	-	3	2	NCKIPSD	48691073	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.401000	0.73256	2.499000	0.84300	0.563000	0.77884	TTC		0.582	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257520.1	NM_016453		12	58	0	0	0	0.013537	0	12	58					C	48716069	G	C	48716069	3	2	359	1	0	0	0	0	1	0	0	0	10225	933	33	4	283	4	NCKIPSD	3	48716069	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08		48716069	149306361	17	7583											
NISCH	11188	broad.mit.edu	37	chr3	52526232	52526232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccgccgcgtccgggacctgGaccgagtgctcatgggctac	15	15	1	0			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr3:52526232G>A	ENST00000479054.1	+	22	4321	c.4249G>A	c.(4249-4251)Gac>Aac	p.D1417N	NISCH_ENST00000345716.4_Missense_Mutation_p.D1417N			Q9Y2I1	NISCH_HUMAN	nischarin	1417					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	CCGGGACCTGGACCGAGTGCT	0.637																																						ENST00000345716.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(4249-4251)Gac>Aac		nischarin							88	88	88					3																	52526232		2203	4299	6502	SO:0001583	missense	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52526232G>A	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"imidazoline receptor candidate", "I-1 receptor candidate protein", "imidazoline receptor antisera selected"	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.4249G>A	3.37:g.52526232G>A	ENSP00000418232:p.Asp1417Asn					NISCH_ENST00000479054.1_Missense_Mutation_p.D1417N	p.D1417N	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	21	4383	+			1417					C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	c.4249G>A	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.982343	0.93044	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000433196;ENST00000414197	T;T	0.12255	2.7;2.7	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.26484	0.0647	L	0.32530	0.975	0.48087	D	0.999583	D	0.67145	0.996	P	0.60609	0.877	T	0.00958	-1.1500	10	0.66056	D	0.02	-41.8002	19.116	0.93340	0.0:0.0:1.0:0.0	.	1417	Q9Y2I1	NISCH_HUMAN	N	1417;1417;341;761	ENSP00000418232:D1417N;ENSP00000339958:D1417N	ENSP00000339958:D1417N	D	+	1	0	NISCH	52501272	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.090000	0.94144	2.535000	0.85469	0.561000	0.74099	GAC		0.637	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		27	112	0	0	0	0.003954	0	27	112					A	52526232	G	A	52526232	3	1	359	1	0	0	0	0	1	0	0	0	10432	1174	41	2	4331	2	NISCH	3	52526232	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	3810163	52526232	145496198	18	7584											
NISCH	11188	broad.mit.edu	37	chr3	52526412	52526412	+	Missense_Mutation	SNP	G	G	A													aggtgtttgtccccagtgctGagagcagagagaagctcatc							TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr3:52526412G>A	ENST00000479054.1	+	22	4501	c.4429G>A	c.(4429-4431)Gag>Aag	p.E1477K	NISCH_ENST00000345716.4_Missense_Mutation_p.E1477K|STAB1_ENST00000321725.6_5'Flank			Q9Y2I1	NISCH_HUMAN	nischarin	1477					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	CCCCAGTGCTGAGAGCAGAGA	0.662																																						ENST00000345716.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(4429-4431)Gag>Aag		nischarin							70	79	76					3																	52526412		2203	4300	6503	SO:0001583	missense	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52526412G>A	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"imidazoline receptor candidate", "I-1 receptor candidate protein", "imidazoline receptor antisera selected"	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.4429G>A	3.37:g.52526412G>A	ENSP00000418232:p.Glu1477Lys					NISCH_ENST00000479054.1_Missense_Mutation_p.E1477K	p.E1477K	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	21	4563	+			1477					C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	c.4429G>A	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.715027	0.89112	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000433196;ENST00000414197	T;T	0.10005	2.92;2.92	5.37	5.37	0.77165	.	0.193305	0.44285	D	0.000471	T	0.13372	0.0324	N	0.24115	0.695	0.37148	D	0.902043	D	0.57257	0.979	P	0.47528	0.549	T	0.04017	-1.0984	10	0.72032	D	0.01	-26.6194	19.116	0.93340	0.0:0.0:1.0:0.0	.	1477	Q9Y2I1	NISCH_HUMAN	K	1477;1477;401;791	ENSP00000418232:E1477K;ENSP00000339958:E1477K	ENSP00000339958:E1477K	E	+	1	0	NISCH	52501452	1.000000	0.71417	0.966000	0.40874	0.947000	0.59692	7.073000	0.76784	2.535000	0.85469	0.561000	0.74099	GAG		0.662	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		39	105	0	0	0	0.004289	0	39	105					A	52526412	G	A	52526412	3	1	359	1	0	0	0	0	1	0	0	0	10432	1291	45	2	4511	2	NISCH	3	52526412	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	180	52526412	145496018	19	7585	45	2									
NISCH	11188	broad.mit.edu	37	chr3	52526419	52526419	+	Missense_Mutation	SNP	G	G	A													tgtccccagtgctgagagcaGagagaagctcatctcgctgt							TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr3:52526419G>A	ENST00000479054.1	+	22	4508	c.4436G>A	c.(4435-4437)aGa>aAa	p.R1479K	NISCH_ENST00000345716.4_Missense_Mutation_p.R1479K|STAB1_ENST00000321725.6_5'Flank			Q9Y2I1	NISCH_HUMAN	nischarin	1479					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	GCTGAGAGCAGAGAGAAGCTC	0.657																																						ENST00000345716.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(4435-4437)aGa>aAa		nischarin							63	71	69					3																	52526419		2203	4300	6503	SO:0001583	missense	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52526419G>A	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"imidazoline receptor candidate", "I-1 receptor candidate protein", "imidazoline receptor antisera selected"	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.4436G>A	3.37:g.52526419G>A	ENSP00000418232:p.Arg1479Lys					NISCH_ENST00000479054.1_Missense_Mutation_p.R1479K	p.R1479K	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	21	4570	+			1479					C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	c.4436G>A	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	G	31	5.078507	0.94000	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000433196;ENST00000414197	T;T	0.12147	2.71;2.71	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000001	T	0.23133	0.0559	L	0.32530	0.975	0.42502	D	0.992938	D	0.62365	0.991	P	0.54499	0.754	T	0.00804	-1.1559	10	0.87932	D	0	-8.9895	19.116	0.93340	0.0:0.0:1.0:0.0	.	1479	Q9Y2I1	NISCH_HUMAN	K	1479;1479;403;793	ENSP00000418232:R1479K;ENSP00000339958:R1479K	ENSP00000339958:R1479K	R	+	2	0	NISCH	52501459	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	8.883000	0.92426	2.535000	0.85469	0.561000	0.74099	AGA		0.657	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		32	92	0	0	0	0.008361	0	32	92					A	52526419	G	A	52526419	3	1	359	1	0	0	0	0	1	0	0	0	10432	942	33	2	4518	2	NISCH	3	52526419	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	7	52526419	145496011	20	7586	45	2									
SLC33A1	9197	broad.mit.edu	37	chr3	155571317	155571317	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtccacctgagtggataaaTagatcatgaagagtcctagt	11	7	1	4	rs375098848		TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr3:155571317T>C	ENST00000392845.3	-	1	850	c.470A>G	c.(469-471)tAt>tGt	p.Y157C	SLC33A1_ENST00000359479.3_Missense_Mutation_p.Y157C|SLC33A1_ENST00000460729.1_5'Flank			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	157					acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	acetyl-CoA transporter activity (GO:0008521)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGTGGATAAATAGATCATGAA	0.488																																						ENST00000392845.2																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22						c.(469-471)tAt>tGt		solute carrier family 33 (acetyl-CoA transporter), member 1		T	CYS/TYR,CYS/TYR	1,4405	2.1+/-5.4	0,1,2202	60	63	62		470,470	4.2	0.0	3		62	0,8600		0,0,4300	no	missense,missense	SLC33A1	NM_001190992.1,NM_004733.3	194,194	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	157/550,157/550	155571317	1,13005	2203	4300	6503	SO:0001583	missense	9197				cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity	g.chr3:155571317T>C	D88152	CCDS3173.1	3q25.31	2013-05-22		2002-12-06	ENSG00000169359	ENSG00000169359		"Solute carriers"	95	protein-coding gene	gene with protein product		603690	"acetyl-Coenzyme A transporter", "spastic paraplegia 42 (autosomal dominant)"	ACATN, SPG42		9096318, 19061983	Standard	NM_004733		Approved	AT-1, AT1	uc003fao.2	O00400	OTTHUMG00000158481	ENST00000392845.3:c.470A>G	3.37:g.155571317T>C	ENSP00000376587:p.Tyr157Cys					SLC33A1_ENST00000359479.3_Missense_Mutation_p.Y157C	p.Y157C	NM_004733.3	NP_004724.1	O00400	ACATN_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		1	850	-			157					B2R5Q2|D3DNK4	Missense_Mutation	SNP	ENST00000392845.3	37	c.470A>G	CCDS3173.1	.	.	.	.	.	.	.	.	.	.	T	11.73	1.726533	0.30593	2.27E-4	0.0	ENSG00000169359	ENST00000392845;ENST00000359479	T;T	0.80566	-1.39;-1.39	5.42	4.23	0.50019	Major facilitator superfamily domain, general substrate transporter (1);	0.112487	0.64402	D	0.000006	T	0.72003	0.3407	L	0.37800	1.135	0.80722	D	1	B	0.06786	0.001	B	0.15052	0.012	T	0.66356	-0.5944	10	0.45353	T	0.12	-6.4082	11.8536	0.52425	0.1312:0.0:0.0:0.8688	.	157	O00400	ACATN_HUMAN	C	157	ENSP00000376587:Y157C;ENSP00000352456:Y157C	ENSP00000352456:Y157C	Y	-	2	0	SLC33A1	157054011	0.289000	0.24334	0.011000	0.14972	0.671000	0.39405	1.251000	0.32862	0.967000	0.38186	0.529000	0.55759	TAT		0.488	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351130.3	NM_004733		3	59	0	0	0	0.009096	0	3	59					C	155571317	T	C	155571317	3	2	359	1	0	0	0	0	1	0	0	0	14566	1406	49	3	1203	3	SLC33A1	3	155571317	Missense_Mutation	SNP	T	TCGA-ET-A2MY-01A-11D-A18F-08	103044898	155571317	42451113	21	7587											
RBPJ	3516	broad.mit.edu	37	chr4	26432321	26432321	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atttcctcctcaggtgtggaGagagtatgctctgtgtcgtc	12	9	2	1			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr4:26432321G>A	ENST00000361572.6	+	11	1389	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	RBPJ_ENST00000504907.1_Missense_Mutation_p.R350K|RBPJ_ENST00000342295.1_Missense_Mutation_p.E399K|RBPJ_ENST00000342320.4_Missense_Mutation_p.E385K|RBPJ_ENST00000348160.4_Missense_Mutation_p.E386K|RBPJ_ENST00000355476.3_Missense_Mutation_p.E385K|RBPJ_ENST00000507561.1_Missense_Mutation_p.E364K|RBPJ_ENST00000345843.3_Missense_Mutation_p.E384K			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	399	IPT/TIG.				angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				CAGGTGTGGAGAGAGTATGCT	0.408																																						ENST00000342320.4																			0				central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15						c.(1153-1155)Gag>Aag		recombination signal binding protein for immunoglobulin kappa J region							69	69	69					4																	26432321		2203	4300	6503	SO:0001583	missense	3516				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity	g.chr4:26432321G>A	L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"suppressor of hairless homolog (Drosophila)"	147183	"recombining binding protein suppressor of hairless (Drosophila)"	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.1195G>A	4.37:g.26432321G>A	ENSP00000354528:p.Glu399Lys					RBPJ_ENST00000361572.6_Missense_Mutation_p.E399K|RBPJ_ENST00000355476.3_Missense_Mutation_p.E385K|RBPJ_ENST00000342295.1_Missense_Mutation_p.E399K|RBPJ_ENST00000345843.3_Missense_Mutation_p.E384K|RBPJ_ENST00000504907.1_Missense_Mutation_p.R350K|RBPJ_ENST00000348160.4_Missense_Mutation_p.E386K|RBPJ_ENST00000507561.1_Missense_Mutation_p.E364K	p.E385K			Q06330	SUH_HUMAN			11	1329	+		Breast(46;0.0503)	399			IPT/TIG.		B4DY22|Q5XKH9|Q6P1N3	Missense_Mutation	SNP	ENST00000361572.6	37	c.1153G>A	CCDS3437.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.6|29.6	5.022329|5.022329	0.93462|0.93462	.|.	.|.	ENSG00000168214|ENSG00000168214	ENST00000345843;ENST00000342295;ENST00000361572;ENST00000348160;ENST00000355476;ENST00000507561;ENST00000342320;ENST00000504423|ENST00000504907	T;T;T;T;T;T;T;T|T	0.76316|0.58797	-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01|0.31	5.51|5.51	5.51|5.51	0.81932|0.81932	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.63861|0.63861	0.2547|0.2547	M|M	0.83692|0.83692	2.655|2.655	0.80722|0.80722	D|D	1|1	D;D;D;D|B	0.71674|0.14438	0.998;0.997;0.997;0.998|0.01	D;D;D;D|B	0.73380|0.13407	0.98;0.966;0.966;0.98|0.009	T|T	0.61217|0.61217	-0.7107|-0.7107	10|8	0.62326|.	D|.	0.03|.	-19.5648|-19.5648	19.3944|19.3944	0.94601|0.94601	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	386;385;384;399|350	B4DY22;Q06330-6;Q06330-4;Q06330|D6R927	.;.;.;SUH_HUMAN|.	K|K	384;399;399;386;385;364;385;85|350	ENSP00000305815:E384K;ENSP00000345206:E399K;ENSP00000354528:E399K;ENSP00000339699:E386K;ENSP00000347659:E385K;ENSP00000423907:E364K;ENSP00000340124:E385K;ENSP00000421804:E85K|ENSP00000423703:R350K	ENSP00000345206:E399K|.	E|R	+|+	1|2	0|0	RBPJ|RBPJ	26041419|26041419	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	9.132000|9.132000	0.94455|0.94455	2.598000|2.598000	0.87819|0.87819	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.408	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	NM_015874		5	56	0	0	0	0.001168	0	5	56					A	26432321	G	A	26432321	3	1	359	1	0	0	0	0	1	0	0	0	13161	943	33	2	1300	2	RBPJ	4	26432321	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08		26432321	164721955	22	7588											
GIN1	54826	broad.mit.edu	37	chr5	102444350	102444350	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tagttgaatgatattcaccaGttcgtttgtaatatgcaatc	7	6	1	2			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr5:102444350G>C	ENST00000399004.2	-	2	156	c.62C>G	c.(61-63)aCt>aGt	p.T21S	GIN1_ENST00000508629.1_Missense_Mutation_p.T21S	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	21					DNA integration (GO:0015074)		nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		ATATTCACCAGTTCGTTTGTA	0.328																																						ENST00000399004.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(61-63)aCt>aGt		gypsy retrotransposon integrase 1							143	133	136					5																	102444350		1847	4094	5941	SO:0001583	missense	54826				DNA integration		DNA binding	g.chr5:102444350G>C	BC015325	CCDS43349.1	5q21.1	2008-02-11	2007-06-13	2007-06-13		ENSG00000145723			25959	protein-coding gene	gene with protein product	"gypsy integrase 1", "Ty3/Gypsy integrase 1"		"zinc finger, H2C2 domain containing"	ZH2C2		11470852	Standard	NM_017676		Approved	FLJ20125, GIN-1, TGIN1	uc003koa.1	Q9NXP7		ENST00000399004.2:c.62C>G	5.37:g.102444350G>C	ENSP00000381970:p.Thr21Ser					GIN1_ENST00000508629.1_Missense_Mutation_p.T21S	p.T21S	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)	2	156	-		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)	21					B2RXF7|B4DIV4|Q6AI03|Q96BR2	Missense_Mutation	SNP	ENST00000399004.2	37	c.62C>G	CCDS43349.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.066931	0.36470	.	.	ENSG00000145723	ENST00000399004;ENST00000508629	T;T	0.22743	2.15;1.94	6.16	5.3	0.74995	.	0.000000	0.64402	D	0.000012	T	0.14270	0.0345	N	0.08118	0	0.31698	N	0.640996	P;P	0.46220	0.874;0.825	B;B	0.44163	0.443;0.393	T	0.05419	-1.0886	10	0.39692	T	0.17	-10.4056	14.1605	0.65443	0.0689:0.0:0.9311:0.0	.	21;21	Q9NXP7-3;Q9NXP7	.;GIN1_HUMAN	S	21	ENSP00000381970:T21S;ENSP00000427162:T21S	ENSP00000381970:T21S	T	-	2	0	GIN1	102472249	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	4.414000	0.59802	1.627000	0.50400	0.650000	0.86243	ACT		0.328	GIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370478.3	NM_017676		3	46	0	0	0	0.004672	0	3	46					C	102444350	G	C	102444350	3	2	359	1	0	0	0	0	1	0	0	0	6386	1029	36	4	1534	4	GIN1	5	102444350	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08		102444350	78470910	23	7589											
PKHD1	5314	broad.mit.edu	37	chr6	51613023	51613023	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccactttccttatagagatGaaggccatgaagacttgaat	8	8	0	5			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr6:51613023G>A	ENST00000371117.3	-	58	9666	c.9391C>T	c.(9391-9393)Cat>Tat	p.H3131Y	PKHD1_ENST00000340994.4_Missense_Mutation_p.H3131Y	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3131					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTATAGAGATGAAGGCCATGA	0.458																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(9391-9393)Cat>Tat		polycystic kidney and hepatic disease 1 (autosomal recessive)							217	221	220					6																	51613023		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51613023G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.9391C>T	6.37:g.51613023G>A	ENSP00000360158:p.His3131Tyr					PKHD1_ENST00000340994.4_Missense_Mutation_p.H3131Y	p.H3131Y	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			58	9666	-	Lung NSC(77;0.0605)		3131					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.9391C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.239641	0.39598	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.77877	-1.13;-1.13	5.86	5.86	0.93980	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.000000	0.85682	D	0.000000	T	0.75606	0.3872	L	0.40543	1.245	0.40646	D	0.981992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.998	T	0.70360	-0.4893	10	0.02654	T	1	.	19.1901	0.93663	0.0:0.0:1.0:0.0	.	3131;3131;3131	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	Y	3131	ENSP00000360158:H3131Y;ENSP00000341097:H3131Y	ENSP00000341097:H3131Y	H	-	1	0	PKHD1	51720982	1.000000	0.71417	1.000000	0.80357	0.417000	0.31264	6.432000	0.73400	2.776000	0.95493	0.655000	0.94253	CAT		0.458	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		5	292	0	0	0	0.001168	0	5	292					A	51613023	G	A	51613023	3	1	359	1	0	0	0	0	1	0	0	0	11971	1290	45	2	2912	2	PKHD1	6	51613023	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08		51613023	119502044	24	7590											
USP45	85015	broad.mit.edu	37	chr6	99924037	99924037	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acctttgtttcttctgtcctCactgcatccagaagataatg	6	11	3	2			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr6:99924037C>G	ENST00000327681.6	-	9	1447	c.915G>C	c.(913-915)gtG>gtC	p.V305V	USP45_ENST00000369233.2_Silent_p.V305V|USP45_ENST00000392738.2_Silent_p.V43V|USP45_ENST00000500704.2_Silent_p.V305V	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	305	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		CTTCTGTCCTCACTGCATCCA	0.408																																						ENST00000327681.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22						c.(913-915)gtG>gtC		ubiquitin specific peptidase 45							80	79	80					6																	99924037		2203	4300	6503	SO:0001819	synonymous_variant	85015				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:99924037C>G	AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"Ubiquitin-specific peptidases"	20080	protein-coding gene	gene with protein product			"ubiquitin specific protease 45"			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.915G>C	6.37:g.99924037C>G						USP45_ENST00000392738.2_Silent_p.V43V|USP45_ENST00000500704.2_Silent_p.V305V|USP45_ENST00000369233.2_Silent_p.V305V	p.V305V	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0718)	9	1447	-		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)	305					B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Silent	SNP	ENST00000327681.6	37	c.915G>C	CCDS34501.1	.	.	.	.	.	.	.	.	.	.	C	8.205	0.799108	0.16397	.	.	ENSG00000123552	ENST00000496090	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7281	0.85428	0.0:0.871:0.129:0.0	.	.	.	.	S	16	.	.	X	-	2	2	USP45	100030758	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.846000	0.27682	2.663000	0.90544	0.585000	0.79938	TGA		0.408	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2	NM_032929		8	45	0	0	0	0.00308	0	8	45					G	99924037	C	G	99924037	2	3	359	1	0	0	0	0	0	0	0	1	17073	813	29	4		4	USP45	6	99924037	Silent	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	48311014	99924037	71191030	25	7591											
SESN1	27244	broad.mit.edu	37	chr6	109322623	109322623	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgtaatgttatccaaacgGcccaaagcagcaaaagaatc	7	10	0	1			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr6:109322623G>A	ENST00000356644.7	-	3	331	c.237C>T	c.(235-237)ggC>ggT	p.G79G	SESN1_ENST00000302071.2_Silent_p.G13G|RP11-787I22.3_ENST00000605885.1_RNA|SESN1_ENST00000436639.2_Silent_p.G138G	NM_001199933.1	NP_001186862.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	79					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of cell proliferation (GO:0008285)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)	nucleus (GO:0005634)				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		TATCCAAACGGCCCAAAGCAG	0.403																																						ENST00000436639.2																			0				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(412-414)ggC>ggT		sestrin 1							93	85	88					6																	109322623		2203	4300	6503	SO:0001819	synonymous_variant	27244				cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus		g.chr6:109322623G>A	AF033120	CCDS5070.1, CCDS56444.1, CCDS56445.1	6q21	2008-10-23			ENSG00000080546	ENSG00000080546			21595	protein-coding gene	gene with protein product		606103				9926927, 7938006	Standard	NM_014454		Approved	SEST1, PA26	uc003psu.3	Q9Y6P5	OTTHUMG00000015338	ENST00000356644.7:c.237C>T	6.37:g.109322623G>A						SESN1_ENST00000356644.7_Silent_p.G79G|SESN1_ENST00000302071.2_Silent_p.G13G	p.G138G	NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)	3	1159	-		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)	79					Q2M2B7|Q5T316|Q9NV00|Q9UPD5|Q9Y6P6	Silent	SNP	ENST00000356644.7	37	c.414C>T	CCDS56445.1																																																																																				0.403	SESN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041738.4	NM_014454		3	33	0	0	0	0.004672	0	3	33					A	109322623	G	A	109322623	2	1	359	1	0	0	0	0	0	0	0	1	14124	1190	42	2		2	SESN1	6	109322623	Silent	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	9398586	109322623	61792444	26	7592											
IFNGR1	3459	broad.mit.edu	37	chr6	137519644	137519644	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtcttcggtatgcatgcctgGaactgttgctggagacaacg	13	9	1	1			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr6:137519644G>T	ENST00000367739.4	-	7	1115	c.994C>A	c.(994-996)Cca>Aca	p.P332T	IFNGR1_ENST00000543628.1_Missense_Mutation_p.P304T	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	332					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	TGCATGCCTGGAACTGTTGCT	0.413																																						ENST00000367739.4																			0				central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18						c.(994-996)Cca>Aca		interferon gamma receptor 1	Interferon gamma-1b(DB00033)						96	89	91					6																	137519644		2203	4300	6503	SO:0001583	missense	3459				regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity	g.chr6:137519644G>T		CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"Interferons", "CD molecules"	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.994C>A	6.37:g.137519644G>T	ENSP00000356713:p.Pro332Thr					IFNGR1_ENST00000543628.1_Missense_Mutation_p.P304T	p.P332T	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN		GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	7	1115	-	Colorectal(23;0.24)		332					B4DFT7|E1P587|Q53Y96	Missense_Mutation	SNP	ENST00000367739.4	37	c.994C>A	CCDS5185.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.775555	0.31411	.	.	ENSG00000027697	ENST00000367739;ENST00000543628	T;T	0.72835	-0.69;-0.52	5.06	-4.15	0.03881	.	6.509710	0.00447	N	0.000089	T	0.33990	0.0882	L	0.34521	1.04	0.09310	N	1	P;P	0.45176	0.822;0.852	B;B	0.39217	0.194;0.294	T	0.33574	-0.9863	10	0.29301	T	0.29	0.5931	5.8866	0.18884	0.4116:0.3941:0.1944:0.0	.	304;332	F5H5M7;P15260	.;INGR1_HUMAN	T	332;304	ENSP00000356713:P332T;ENSP00000443282:P304T	ENSP00000356713:P332T	P	-	1	0	IFNGR1	137561337	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-0.920000	0.04013	-0.536000	0.06298	-0.140000	0.14226	CCA		0.413	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042401.1			22	32	1	0	1.9806e-07	0.014323	2.37259e-07	22	32					T	137519644	G	T	137519644	3	4	359	1	0	0	0	0	1	0	0	0	7549	1174	41	4	479	4	IFNGR1	6	137519644	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	28197021	137519644	33595423	27	7593											
ABCB5	340273	broad.mit.edu	37	chr7	20782555	20782555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctttcttctatccatgtcGcccagatgttttcatcctcc	4	15	4	1			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr7:20782555G>A	ENST00000404938.2	+	25	3732	c.3080G>A	c.(3079-3081)cGc>cAc	p.R1027H	ABCB5_ENST00000258738.6_Missense_Mutation_p.R582H	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	1027	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TATCCATGTCGCCCAGATGTT	0.468																																						ENST00000404938.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(3079-3081)cGc>cAc		ATP-binding cassette, sub-family B (MDR/TAP), member 5							142	134	137					7																	20782555		2203	4300	6503	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20782555G>A	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.3080G>A	7.37:g.20782555G>A	ENSP00000384881:p.Arg1027His					ABCB5_ENST00000258738.6_Missense_Mutation_p.R582H	p.R1027H	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			25	3732	+			582					A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.3080G>A	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627434	0.87560	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.90788	-2.73;-2.73	4.96	4.06	0.47325	ABC transporter-like (1);	0.000000	0.52532	D	0.000069	D	0.91382	0.7281	L	0.28694	0.88	0.51767	D	0.999932	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.989	D	0.91792	0.5444	10	0.87932	D	0	.	12.7195	0.57134	0.0833:0.0:0.9167:0.0	.	1027;582	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	H	1027;582	ENSP00000384881:R1027H;ENSP00000258738:R582H	ENSP00000258738:R582H	R	+	2	0	ABCB5	20749080	0.997000	0.39634	0.998000	0.56505	0.940000	0.58332	6.253000	0.72453	2.575000	0.86900	0.650000	0.86243	CGC		0.468	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		7	49	0	0	0	0.00308	0	7	49					A	20782555	G	A	20782555	3	1	359	1	0	0	0	0	1	0	0	0	44	1087	38	1	3215	1	ABCB5	7	20782555	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08		20782555	138356108	28	7594											
SEMA3A	10371	broad.mit.edu	37	chr7	83764225	83764225	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tatgataactggagctgttgGccaagccattgaaagtgatc	11	7	0	3			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr7:83764225G>C	ENST00000265362.4	-	2	469	c.155C>G	c.(154-156)gCc>gGc	p.A52G	SEMA3A_ENST00000436949.1_Missense_Mutation_p.A52G	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	52	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						GGAGCTGTTGGCCAAGCCATT	0.393																																						ENST00000265362.3																			0				breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(154-156)gCc>gGc		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A							114	104	108					7																	83764225		2203	4300	6503	SO:0001583	missense	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83764225G>C	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10723	protein-coding gene	gene with protein product	"sema III"	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.155C>G	7.37:g.83764225G>C	ENSP00000265362:p.Ala52Gly					SEMA3A_ENST00000436949.1_Missense_Mutation_p.A52G	p.A52G	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN			2	469	-			52			Sema.			Missense_Mutation	SNP	ENST00000265362.4	37	c.155C>G	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	g	12.64	1.997405	0.35226	.	.	ENSG00000075213	ENST00000265362;ENST00000436949;ENST00000420047	T;T;T	0.22134	1.97;1.97;1.97	4.93	4.93	0.64822	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.279904	0.40064	N	0.001200	T	0.11196	0.0273	N	0.11064	0.09	0.52501	D	0.999951	B	0.02656	0.0	B	0.01281	0.0	T	0.17319	-1.0373	10	0.16420	T	0.52	.	12.9115	0.58182	0.0789:0.0:0.9211:0.0	.	52	Q14563	SEM3A_HUMAN	G	52	ENSP00000265362:A52G;ENSP00000415260:A52G;ENSP00000391900:A52G	ENSP00000265362:A52G	A	-	2	0	SEMA3A	83602161	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.533000	0.81994	2.434000	0.82447	0.467000	0.42956	GCC		0.393	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		22	34	0	0	0	0.014323	0	22	34					C	83764225	G	C	83764225	3	2	359	1	0	0	0	0	1	0	0	0	14024	1203	42	4	2224	4	SEMA3A	7	83764225	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	62981670	83764225	75374438	29	7595											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		25	28	0	0	0	0.00278	0	25	28					T	140453136	A	T	140453136	3	4	359	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A2MY-01A-11D-A18F-08	56688911	140453136	18685527	30	7596											
ZNF786	136051	broad.mit.edu	37	chr7	148767890	148767890	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcgatgagctttgagtgtttCacaaagcccttgccgcactc	9	12	1	2			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr7:148767890C>T	ENST00000491431.1	-	4	2038	c.1974G>A	c.(1972-1974)gtG>gtA	p.V658V	ZNF786_ENST00000316286.9_Silent_p.V572V|ZNF786_ENST00000451334.3_Silent_p.V621V	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	658					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(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TTGAGTGTTTCACAAAGCCCT	0.572																																						ENST00000316286.9																			0				breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26						c.(1714-1716)gtG>gtA		zinc finger protein 786							65	69	68					7																	148767890		2161	4273	6434	SO:0001819	synonymous_variant	136051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148767890C>T	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"Zinc fingers, C2H2-type", "-"	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.1974G>A	7.37:g.148767890C>T						ZNF786_ENST00000491431.1_Silent_p.V658V|ZNF786_ENST00000451334.3_Silent_p.V621V	p.V572V			Q8N393	ZN786_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		3	1988	-	Melanoma(164;0.15)		658					A1A568|B4DMI1	Silent	SNP	ENST00000491431.1	37	c.1716G>A	CCDS47738.1																																																																																				0.572	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1	NM_152411		12	88	0	0	0	0.001855	0	12	88					T	148767890	C	T	148767890	2	4	359	1	0	0	0	0	0	0	0	1	18155	813	29	2		2	ZNF786	7	148767890	Silent	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	8314754	148767890	10370773	31	7597											
GIMAP5	55340	broad.mit.edu	37	chr7	150439358	150439358	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgggaaaagtgccacagGgaacagcatccttggccagc	13	12	0	0			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr7:150439358G>T	ENST00000358647.3	+	3	498	c.131G>T	c.(130-132)gGg>gTg	p.G44V	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	44	AIG1-type G.				myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell activation (GO:0050868)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of membrane potential (GO:0045838)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of mitochondrial membrane permeability (GO:0046902)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|temperature homeostasis (GO:0001659)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTGCCACAGGGAACAGCATC	0.527																																						ENST00000358647.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19						c.(130-132)gGg>gTg		GTPase, IMAP family member 5							85	73	77					7																	150439358		2203	4300	6503	SO:0001583	missense	55340							g.chr7:150439358G>T	AK002158	CCDS5907.1	7q36.1	2014-04-04	2004-10-29	2004-10-30	ENSG00000196329	ENSG00000196329		"GTPases, IMAP"	18005	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 5"	608086	"immune associated nucleotide 4 like 1 (mouse)"	IAN4L1			Standard	NM_018384		Approved	HIMAP3, IAN5		Q96F15	OTTHUMG00000157542	ENST00000358647.3:c.131G>T	7.37:g.150439358G>T	ENSP00000351473:p.Gly44Val					GIMAP5_ENST00000479556.1_3'UTR	p.G44V	NM_018384.4	NP_060854.2			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	498	+								D3DWZ5|Q6IA75|Q96NE4|Q9NUK9	Missense_Mutation	SNP	ENST00000358647.3	37	c.131G>T	CCDS5907.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646474	0.67358	.	.	ENSG00000196329	ENST00000358647;ENST00000447239	T	0.30448	1.53	4.35	4.35	0.52113	AIG1 (1);	0.118294	0.56097	D	0.000023	T	0.56819	0.2011	M	0.82630	2.6	0.54753	D	0.999985	D	0.89917	1.0	D	0.87578	0.998	T	0.63211	-0.6688	10	0.87932	D	0	.	12.225	0.54455	0.0:0.0:1.0:0.0	.	44	Q96F15	GIMA5_HUMAN	V	44;80	ENSP00000351473:G44V	ENSP00000351473:G44V	G	+	2	0	GIMAP5	150070291	0.989000	0.36119	0.989000	0.46669	0.985000	0.73830	3.065000	0.49994	2.251000	0.74343	0.655000	0.94253	GGG		0.527	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349108.2	NM_018384		9	52	1	0	1.12685e-05	0.004482	1.33596e-05	9	52					T	150439358	G	T	150439358	3	4	359	1	0	0	0	0	1	0	0	0	6382	1232	43	4	137	4	GIMAP5	7	150439358	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	1671468	150439358	8699305	32	7598											
LONRF1	91694	broad.mit.edu	37	chr8	12594452	12594452	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cttccatcttcatttacaatCacatcctgttctaaaagaga	3	11	4	1			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr8:12594452C>G	ENST00000398246.3	-	5	1380	c.1311G>C	c.(1309-1311)gtG>gtC	p.V437V	LONRF1_ENST00000530693.1_5'Flank|LONRF1_ENST00000533751.1_Silent_p.V80V	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	437							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		CATTTACAATCACATCCTGTT	0.318																																						ENST00000398246.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						c.(1309-1311)gtG>gtC		LON peptidase N-terminal domain and ring finger 1							73	63	66					8																	12594452		1811	4076	5887	SO:0001819	synonymous_variant	91694				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr8:12594452C>G	AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"RING-type (C3HC4) zinc fingers"	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.1311G>C	8.37:g.12594452C>G						LONRF1_ENST00000533751.1_Silent_p.V80V	p.V437V	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN		READ - Rectum adenocarcinoma(644;0.236)	5	1380	-			437					B4DM29|B4DU84|Q8TEA0|Q9BSV1	Silent	SNP	ENST00000398246.3	37	c.1311G>C	CCDS5987.2																																																																																				0.318	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251693.2	NM_152271		12	26	0	0	0	0.010729	0	12	26					G	12594452	C	G	12594452	2	3	359	1	0	0	0	0	0	0	0	1	8894	813	29	4		4	LONRF1	8	12594452	Silent	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08		12594452	133769570	33	7599											
PNOC	5368	broad.mit.edu	37	chr8	28196729	28196729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcatctgcggcgaatgccccGagtccggagcttgttccagg	14	13	1	0	rs533728896	byFrequency	TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr8:28196729G>A	ENST00000301908.3	+	3	507	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	RP11-380I10.4_ENST00000521731.1_RNA|PNOC_ENST00000522209.1_Missense_Mutation_p.R36Q	NM_006228.3	NP_006219.1	Q13519	PNOC_HUMAN	prepronociceptin	100					neuropeptide signaling pathway (GO:0007218)|sensory perception (GO:0007600)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)	p.R100E(1)|p.R100Q(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(32;0.000953)		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)		CGAATGCCCCGAGTCCGGAGC	0.632													G|||	2	0.000399361	0	0	5008	,	,		15856	0		0	False		,,,				2504	0.002					ENST00000301908.3																			2	Substitution - Missense(2)	p.R100E(1)|p.R100Q(1)	lung(2)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5						c.(298-300)cGa>cAa		prepronociceptin							33	38	36					8																	28196729		2203	4300	6503	SO:0001583	missense	5368				neuropeptide signaling pathway|sensory perception|synaptic transmission	extracellular region	neuropeptide hormone activity|opioid peptide activity	g.chr8:28196729G>A		CCDS6066.1, CCDS64862.1	8p21	2013-02-26			ENSG00000168081	ENSG00000168081		"Endogenous ligands"	9163	protein-coding gene	gene with protein product	"nocistatin"	601459				8710928, 10101606	Standard	XM_005273532		Approved	PPNOC	uc003xgp.3	Q13519	OTTHUMG00000102125	ENST00000301908.3:c.299G>A	8.37:g.28196729G>A	ENSP00000301908:p.Arg100Gln					PNOC_ENST00000522209.1_Missense_Mutation_p.R36Q|RP11-380I10.4_ENST00000521731.1_RNA	p.R100Q	NM_006228.3	NP_006219.1	Q13519	PNOC_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)	3	507	+		Ovarian(32;0.000953)	100					B7Z749|Q6FH16	Missense_Mutation	SNP	ENST00000301908.3	37	c.299G>A	CCDS6066.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.873429	0.51695	.	.	ENSG00000168081	ENST00000518479;ENST00000301908;ENST00000522209	T;T	0.81415	0.62;-1.49	4.78	4.78	0.61160	.	0.226701	0.41605	D	0.000860	D	0.82972	0.5153	M	0.86097	2.795	0.29323	N	0.867204	P	0.51057	0.941	B	0.43889	0.435	T	0.83332	-0.0012	10	0.66056	D	0.02	-15.8932	13.1952	0.59734	0.0:0.0:1.0:0.0	.	100	Q13519	PNOC_HUMAN	Q	100;100;36	ENSP00000428059:R100Q;ENSP00000301908:R100Q	ENSP00000301908:R100Q	R	+	2	0	PNOC	28252648	0.976000	0.34144	0.945000	0.38365	0.211000	0.24417	2.446000	0.44908	2.474000	0.83562	0.655000	0.94253	CGA		0.632	PNOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219964.2	NM_006228		5	40	0	0	0	0.000602	0	5	40					A	28196729	G	A	28196729	3	1	359	1	0	0	0	0	1	0	0	0	12162	1058	37	1	305	1	PNOC	8	28196729	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	15602277	28196729	118167293	34	7600											
INTS9	55756	broad.mit.edu	37	chr8	28635438	28635438	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	catggccagcggctggtaagGagccagggcttccaggtagg	17	10	0	0			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr8:28635438G>C	ENST00000521022.1	-	13	1384	c.1303C>G	c.(1303-1305)Cct>Gct	p.P435A	INTS9_ENST00000397363.4_Missense_Mutation_p.P329A|INTS9_ENST00000416984.2_Missense_Mutation_p.P414A|INTS9_ENST00000521777.1_Missense_Mutation_p.P411A|INTS9_ENST00000521070.1_5'UTR	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	435					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		GGCTGGTAAGGAGCCAGGGCT	0.502																																						ENST00000416984.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19						c.(1240-1242)Cct>Gct		integrator complex subunit 9							71	68	69					8																	28635438		2203	4300	6503	SO:0001583	missense	55756				snRNA processing	integrator complex	protein binding	g.chr8:28635438G>C	BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.1303C>G	8.37:g.28635438G>C	ENSP00000429065:p.Pro435Ala					INTS9_ENST00000521070.1_5'UTR|INTS9_ENST00000397363.4_Missense_Mutation_p.P329A|INTS9_ENST00000521022.1_Missense_Mutation_p.P435A|INTS9_ENST00000521777.1_Missense_Mutation_p.P411A	p.P414A	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)	12	1599	-		Ovarian(32;0.0439)	435					B7Z560|B7Z6M5|O00224|Q8TB16	Missense_Mutation	SNP	ENST00000521022.1	37	c.1240C>G	CCDS34873.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736397	0.89482	.	.	ENSG00000104299	ENST00000521022;ENST00000416984;ENST00000541706;ENST00000521777;ENST00000397363	T;T;T;T	0.55760	0.53;0.55;0.55;0.5	5.28	5.28	0.74379	.	0.055332	0.85682	D	0.000000	T	0.73118	0.3546	M	0.75615	2.305	0.80722	D	1	D;D	0.67145	0.996;0.996	P;D	0.70716	0.871;0.97	T	0.75605	-0.3260	10	0.59425	D	0.04	-21.4812	18.9064	0.92464	0.0:0.0:1.0:0.0	.	414;435	B7Z6M5;Q9NV88	.;INT9_HUMAN	A	435;414;279;411;329	ENSP00000429065:P435A;ENSP00000398208:P414A;ENSP00000430943:P411A;ENSP00000380520:P329A	ENSP00000380520:P329A	P	-	1	0	INTS9	28691357	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.700000	0.98707	2.459000	0.83118	0.655000	0.94253	CCT		0.502	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376846.1	NM_018250		8	43	0	0	0	0.006214	0	8	43					C	28635438	G	C	28635438	3	2	359	1	0	0	0	0	1	0	0	0	7785	1174	41	4	693	4	INTS9	8	28635438	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	438709	28635438	117728584	35	7601											
CHD7	55636	broad.mit.edu	37	chr8	61707670	61707670	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctcctgaagaagatgAggacccaggtgttcaggtaa	11	10	1	4			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr8:61707670A>G	ENST00000423902.2	+	4	2701	c.2222A>G	c.(2221-2223)gAg>gGg	p.E741G	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.E741G	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	741					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GAAGAAGATGAGGACCCAGGT	0.433																																						ENST00000423902.2																			1	Insertion - In frame(1)	p.556_871dup(1)	lung(1)	NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(2221-2223)gAg>gGg		chromodomain helicase DNA binding protein 7							97	98	98					8																	61707670		1837	4082	5919	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61707670A>G	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.2222A>G	8.37:g.61707670A>G	ENSP00000392028:p.Glu741Gly					CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.E741G	p.E741G	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		4	2701	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	741					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.2222A>G	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	A	18.18	3.567685	0.65651	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000525508	D;T	0.82711	-1.64;-1.22	5.73	5.73	0.89815	.	0.154150	0.30419	N	0.009666	T	0.70868	0.3273	N	0.08118	0	0.49483	D	0.999796	B	0.20780	0.048	B	0.20767	0.031	T	0.68957	-0.5272	10	0.72032	D	0.01	-17.5982	16.3123	0.82883	1.0:0.0:0.0:0.0	.	741	Q9P2D1	CHD7_HUMAN	G	741	ENSP00000392028:E741G;ENSP00000436027:E741G	ENSP00000307304:E741G	E	+	2	0	CHD7	61870224	1.000000	0.71417	0.986000	0.45419	0.987000	0.75469	7.486000	0.81215	2.308000	0.77769	0.533000	0.62120	GAG		0.433	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		3	136	0	0	0	0.009096	0	3	136					G	61707670	A	G	61707670	3	3	359	1	0	0	0	0	1	0	0	0	3330	304	11	3	2232	3	CHD7	8	61707670	Missense_Mutation	SNP	A	TCGA-ET-A2MY-01A-11D-A18F-08	33072232	61707670	84656352	36	7602											
GRINA	2907	broad.mit.edu	37	chr8	145066705	145066705	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgctcttcatcttcgccattCtctgcatcttcatccggaac	5	15	6	0			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr8:145066705C>T	ENST00000313269.5	+	6	1173	c.895C>T	c.(895-897)Ctc>Ttc	p.L299F	GRINA_ENST00000395068.4_Missense_Mutation_p.L299F	NM_000837.1	NP_000828.1	Q7Z429	LFG1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	299						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-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;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTTCGCCATTCTCTGCATCTT	0.617																																						ENST00000313269.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9						c.(895-897)Ctc>Ttc		glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)							125	96	106					8																	145066705		2203	4300	6503	SO:0001583	missense	2907					integral to membrane		g.chr8:145066705C>T	NM_001009184	CCDS34961.1	8q24.3	2010-03-18	2008-04-01						4589	protein-coding gene	gene with protein product	"transmembrane BAX inhibitor motif containing 3"	138251		NMDARA1		1719427, 8406459	Standard	XM_005250899		Approved	HNRGW, TMBIM3, LFG1	uc003zao.1	Q7Z429		ENST00000313269.5:c.895C>T	8.37:g.145066705C>T	ENSP00000314380:p.Leu299Phe					GRINA_ENST00000395068.4_Missense_Mutation_p.L299F	p.L299F	NM_000837.1	NP_000828.1	Q7Z429	GRINA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		6	1173	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		299					B3KXM7|O43836|Q8IVW7	Missense_Mutation	SNP	ENST00000313269.5	37	c.895C>T	CCDS34961.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.79|14.79	2.641580|2.641580	0.47153|0.47153	.|.	.|.	ENSG00000178719|ENSG00000178719	ENST00000313269;ENST00000395068;ENST00000537637|ENST00000533044;ENST00000527194	T;T|.	0.47177|.	0.85;0.85|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.069378|.	0.64402|.	D|.	0.000015|.	T|T	0.54415|0.54415	0.1857|0.1857	L|L	0.28556|0.28556	0.865|0.865	0.53688|0.53688	D|D	0.999976|0.999976	P|.	0.48407|.	0.91|.	P|.	0.49953|.	0.627|.	T|T	0.50242|0.50242	-0.8851|-0.8851	10|5	0.38643|.	T|.	0.18|.	-35.2538|-35.2538	14.429|14.429	0.67236|0.67236	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	299|.	Q7Z429|.	GRINA_HUMAN|.	F|F	299;299;280|121;111	ENSP00000314380:L299F;ENSP00000378507:L299F|.	ENSP00000314380:L299F|.	L|S	+|+	1|2	0|0	GRINA|GRINA	145138693|145138693	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.958000|0.958000	0.62258|0.62258	5.568000|5.568000	0.67385|0.67385	2.454000|2.454000	0.82982|0.82982	0.650000|0.650000	0.86243|0.86243	CTC|TCT		0.617	GRINA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384048.1	NM_001009184		13	24	0	0	0	0.003163	0	13	24					T	145066705	C	T	145066705	3	4	359	1	0	0	0	0	1	0	0	0	6785	913	32	2	913	2	GRINA	8	145066705	Missense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	83359035	145066705	1297317	37	7603											
ZNF250	58500	broad.mit.edu	37	chr8	146107607	146107607	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taccctctggtggctccgcaGaacagtgctatggttgaagg	13	10	1	2	rs2953878		TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr8:146107607G>T	ENST00000292579.7	-	6	1092	c.976C>A	c.(976-978)Ctg>Atg	p.L326M	ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.L321M|ZNF250_ENST00000342660.6_Intron	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	326					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		TGGCTCCGCAGAACAGTGCTA	0.542																																					NSCLC(16;520 556 24096 40084 43446)	ENST00000292579.7																			0				endometrium(4)|kidney(2)|lung(8)|skin(1)	15						c.(976-978)Ctg>Atg		zinc finger protein 250							67	53	58					8																	146107607		2203	4300	6503	SO:0001583	missense	58500				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146107607G>T	AK095705	CCDS34972.1, CCDS55282.1	8q24.3	2013-01-08	2004-11-08			ENSG00000196150		"Zinc fingers, C2H2-type", "-"	13044	protein-coding gene	gene with protein product			"zinc finger protein 647"	ZNF647		12477932	Standard	NM_021061		Approved	MGC9718, ZFP647	uc003zer.4	P15622		ENST00000292579.7:c.976C>A	8.37:g.146107607G>T	ENSP00000292579:p.Leu326Met					ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.L321M|ZNF250_ENST00000342660.6_Intron	p.L326M	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)	6	1092	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		326					D3DWP1|Q59HE9|Q8N942|Q96AH9	Missense_Mutation	SNP	ENST00000292579.7	37	c.976C>A	CCDS34972.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881202	0.51801	.	.	ENSG00000196150	ENST00000292579;ENST00000417550;ENST00000394912	T;T	0.53640	0.61;0.61	3.94	2.12	0.27331	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38005	N	0.001852	T	0.62368	0.2422	M	0.70787	2.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.62369	-0.6869	10	0.87932	D	0	-24.5351	8.0005	0.30293	0.2087:0.0:0.7913:0.0	.	321;326	D3DWP1;P15622	.;ZN250_HUMAN	M	326;321;321	ENSP00000292579:L326M;ENSP00000393442:L321M	ENSP00000292579:L326M	L	-	1	2	ZNF250	146078411	0.507000	0.26146	0.686000	0.30086	0.945000	0.59286	0.809000	0.27168	0.632000	0.30432	0.313000	0.20887	CTG		0.542	ZNF250-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382968.1	NM_021061		10	14	1	0	1.08611e-07	0.010729	1.31476e-07	10	14					T	146107607	G	T	146107607	3	4	359	1	0	0	0	0	1	0	0	0	17792	933	33	4	710	4	ZNF250	8	146107607	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	1040902	146107607	256415	38	7604											
EXOSC3	51010	broad.mit.edu	37	chr9	37783998	37783998	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctccctccaacatcaactttGaatatatctccagatttagc	3	13	2	2			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr9:37783998G>C	ENST00000327304.5	-	2	399	c.387C>G	c.(385-387)ttC>ttG	p.F129L	EXOSC3_ENST00000396521.3_Missense_Mutation_p.F129L|RP11-613M10.9_ENST00000540557.1_3'UTR|EXOSC3_ENST00000490516.1_5'UTR	NM_016042.3	NP_057126.2	Q9NQT5	EXOS3_HUMAN	exosome component 3	129					CUT catabolic process (GO:0071034)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|isotype switching (GO:0045190)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of isotype switching (GO:0045830)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(1)	4				GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221)		CATCAACTTTGAATATATCTC	0.383																																						ENST00000327304.5																			0				breast(2)|endometrium(1)|kidney(1)	4						c.(385-387)ttC>ttG		exosome component 3							121	114	116					9																	37783998		2203	4300	6503	SO:0001583	missense	51010				CUT catabolic process|DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|isotype switching|rRNA processing	cytoplasmic exosome (RNase complex)|cytosol|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding	g.chr9:37783998G>C	BC002437	CCDS35016.1, CCDS43805.1	9p11	2009-01-20			ENSG00000107371	ENSG00000107371			17944	protein-coding gene	gene with protein product	"exosome component Rrp40", "CGI-102 protein"	606489				10810093, 11110791	Standard	NM_016042		Approved	hRrp40p, Rrp40p, RRP40, CGI-102, p10, hRrp-40	uc004aal.3	Q9NQT5	OTTHUMG00000019932	ENST00000327304.5:c.387C>G	9.37:g.37783998G>C	ENSP00000323046:p.Phe129Leu					EXOSC3_ENST00000490516.1_5'UTR|RP11-613M10.9_ENST00000540557.1_3'UTR|EXOSC3_ENST00000396521.3_Missense_Mutation_p.F129L	p.F129L	NM_016042.3	NP_057126.2	Q9NQT5	EXOS3_HUMAN		GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221)	2	399	-			129					A8K0K6|Q5QP85|Q9Y3A8	Missense_Mutation	SNP	ENST00000327304.5	37	c.387C>G	CCDS35016.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764108	0.69878	.	.	ENSG00000107371	ENST00000327304;ENST00000396521	D;D	0.81996	-1.56;-1.56	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.85111	0.5622	M	0.83603	2.65	0.80722	D	1	P;P	0.47191	0.717;0.891	B;P	0.45610	0.352;0.487	D	0.86656	0.1901	10	0.62326	D	0.03	-6.7177	10.3613	0.43996	0.0895:0.0:0.9105:0.0	.	129;129	A8K0K6;Q9NQT5	.;EXOS3_HUMAN	L	129	ENSP00000323046:F129L;ENSP00000379775:F129L	ENSP00000323046:F129L	F	-	3	2	EXOSC3	37773998	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.983000	0.40648	2.637000	0.89404	0.563000	0.77884	TTC		0.383	EXOSC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052478.3	NM_016042		15	76	0	0	0	0.00245	0	15	76					C	37783998	G	C	37783998	3	2	359	1	0	0	0	0	1	0	0	0	5316	1281	45	4	452	4	EXOSC3	9	37783998	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08		37783998	103429433	39	7605											
FANCC	2176	broad.mit.edu	37	chr9	97933399	97933399	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccattaagatgattctctctGagttcagacgctaatgataa	7	8	3	5			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr9:97933399G>C	ENST00000289081.3	-	6	737	c.483C>G	c.(481-483)ctC>ctG	p.L161L	FANCC_ENST00000375305.1_Silent_p.L161L|snoU13_ENST00000459065.1_RNA	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	161					DNA repair (GO:0006281)|germ cell development (GO:0007281)|myeloid cell homeostasis (GO:0002262)|nucleotide-excision repair (GO:0006289)|protein complex assembly (GO:0006461)|removal of superoxide radicals (GO:0019430)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				GATTCTCTCTGAGTTCAGACG	0.363			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000289081.3			yes	Rec		Fanconi anaemia C	9	9q22.3	2176	"D, Mis, N, F, S"	"Fanconi anemia, complementation group C"			L		"AML, leukemia"			0				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(481-483)ctC>ctG	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group C							102	97	99					9																	97933399		2203	4300	6503	SO:0001819	synonymous_variant	2176	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	protein complex assembly	cytosol|nucleoplasm	protein binding	g.chr9:97933399G>C	BC006303	CCDS35071.1, CCDS75861.1	9q22.3	2014-09-17			ENSG00000158169	ENSG00000158169		"Fanconi anemia, complementation groups"	3584	protein-coding gene	gene with protein product		613899		FACC		1303234	Standard	NM_001243743		Approved	FAC, FA3	uc004avh.3	Q00597	OTTHUMG00000020279	ENST00000289081.3:c.483C>G	9.37:g.97933399G>C						FANCC_ENST00000375305.1_Silent_p.L161L	p.L161L	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN			6	737	-		Acute lymphoblastic leukemia(62;0.138)	161					B1ALR8	Silent	SNP	ENST00000289081.3	37	c.483C>G	CCDS35071.1																																																																																				0.363	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053219.1	NM_000136		7	26	0	0	0	0.00308	0	7	26					C	97933399	G	C	97933399	2	2	359	1	0	0	0	0	0	0	0	1	5664	1277	45	4		4	FANCC	9	97933399	Silent	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	60149401	97933399	43280032	40	7606											
WDR34	89891	broad.mit.edu	37	chr9	131397416	131397416	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctgctgcatgaccagggcGaagccctctgtgagctgcag	14	12	1	2	rs570806137		TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr9:131397416G>A	ENST00000372715.2	-	6	996	c.936C>T	c.(934-936)ttC>ttT	p.F312F	WDR34_ENST00000483181.1_5'UTR	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	312						axoneme (GO:0005930)|centriole (GO:0005814)|ciliary basal body (GO:0036064)				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						TGACCAGGGCGAAGCCCTCTG	0.672											OREG0019522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0	0	5008	,	,		17459	0		0	False		,,,				2504	0.001					ENST00000372715.2																			0				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						c.(934-936)ttC>ttT		WD repeat domain 34							44	43	44					9																	131397416		2203	4300	6503	SO:0001819	synonymous_variant	89891					cytoplasm		g.chr9:131397416G>A	BC011874	CCDS6906.2	9q34.11	2013-11-15	2013-02-19	2013-02-19	ENSG00000119333	ENSG00000119333		"WD repeat domain containing"	28296	protein-coding gene	gene with protein product		613363				19521662, 21953912, 24183451	Standard	NM_052844		Approved	DIC5, MGC20486, bA216B9.3, FAP133	uc004bvq.1	Q96EX3	OTTHUMG00000020750	ENST00000372715.2:c.936C>T	9.37:g.131397416G>A			OREG0019522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1587	WDR34_ENST00000483181.1_5'UTR	p.F312F	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN			6	996	-			312					Q5VXV4|Q9BV46	Silent	SNP	ENST00000372715.2	37	c.936C>T	CCDS6906.2																																																																																				0.672	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054463.1	NM_052844		13	47	0	0	0	0.001855	0	13	47					A	131397416	G	A	131397416	2	1	359	1	0	0	0	0	0	0	0	1	17285	1049	37	1		1	WDR34	9	131397416	Silent	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	33464017	131397416	9816015	41	7607											
ACBD5	91452	broad.mit.edu	37	chr10	27520723	27520723	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcttcctctttggtcAtatcacccagtgaactccaa	6	13	4	1			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr10:27520723A>G	ENST00000375888.1	-	3	387	c.323T>C	c.(322-324)aTg>aCg	p.M108T	ACBD5_ENST00000375897.3_Start_Codon_SNP_p.M1T|ACBD5_ENST00000375905.4_Missense_Mutation_p.M75T|RNU7-12P_ENST00000516030.1_RNA|ACBD5_ENST00000396271.3_Missense_Mutation_p.M110T|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375901.1_Start_Codon_SNP_p.M1T			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	108	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.				peroxisome degradation (GO:0030242)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisome (GO:0005777)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CTCTTTGGTCATATCACCCAG	0.328																																						ENST00000396271.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(328-330)aTg>aCg		acyl-CoA binding domain containing 5							159	146	150					10																	27520723		2203	4299	6502	SO:0001583	missense	91452				transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding	g.chr10:27520723A>G	AF505653	CCDS7154.1, CCDS44368.1, CCDS73079.1	10p12.1	2010-04-30	2010-04-30		ENSG00000107897	ENSG00000107897			23338	protein-coding gene	gene with protein product			"acyl-Coenzyme A binding domain containing 5"			12056414	Standard	NR_024150		Approved	DKFZp434A2417, KIAA1996	uc010qdp.2	Q5T8D3	OTTHUMG00000017854	ENST00000375888.1:c.323T>C	10.37:g.27520723A>G	ENSP00000365049:p.Met108Thr					ACBD5_ENST00000375905.4_Missense_Mutation_p.M75T|ACBD5_ENST00000375901.1_Start_Codon_SNP_p.M1T|ACBD5_ENST00000375888.1_Missense_Mutation_p.M108T|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375897.3_Start_Codon_SNP_p.M1T	p.M110T	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN			4	455	-			108			ACB.		B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	Missense_Mutation	SNP	ENST00000375888.1	37	c.329T>C		.	.	.	.	.	.	.	.	.	.	A	16.93	3.258127	0.59321	.	.	ENSG00000107897	ENST00000375889;ENST00000396271;ENST00000375905;ENST00000375901;ENST00000375897;ENST00000375888;ENST00000426079;ENST00000412279	T;T;T;T;T;T;T	0.58797	1.87;1.87;0.31;0.45;1.87;1.87;1.87	5.66	5.66	0.87406	.	0.077304	0.85682	D	0.000000	T	0.72906	0.3519	L	0.58354	1.805	0.36832	D	0.88694	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.78314	0.991;0.99;0.989	T	0.79035	-0.1968	10	0.66056	D	0.02	-15.1415	15.898	0.79350	1.0:0.0:0.0:0.0	.	110;1;108	Q5T8D3-3;B7Z2A7;B7Z2R7	.;.;.	T	105;110;75;1;1;108;117;75	ENSP00000379568:M110T;ENSP00000365070:M75T;ENSP00000365066:M1T;ENSP00000365062:M1T;ENSP00000365049:M108T;ENSP00000401591:M117T;ENSP00000393398:M75T	ENSP00000365049:M108T	M	-	2	0	ACBD5	27560729	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.984000	0.93482	2.150000	0.67090	0.528000	0.53228	ATG		0.328	ACBD5-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000047314.1	NM_145698		5	69	0	0	0	0.000602	0	5	69					G	27520723	A	G	27520723	3	3	359	1	0	0	0	0	1	0	0	0	125	217	8	3	1288	3	ACBD5	10	27520723	Missense_Mutation	SNP	A	TCGA-ET-A2MY-01A-11D-A18F-08		27520723	108014024	42	7608											
TMEM26	219623	broad.mit.edu	37	chr10	63188763	63188763	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cacaaacataagaagaagttGagagagttgatctcgagtga	11	5	1	6			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr10:63188763G>C	ENST00000399298.3	-	4	894	c.526C>G	c.(526-528)Caa>Gaa	p.Q176E	TMEM26_ENST00000399293.1_Missense_Mutation_p.Q176E	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	176						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					AGAAGAAGTTGAGAGAGTTGA	0.448																																						ENST00000399298.3																			0				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(526-528)Caa>Gaa		transmembrane protein 26							114	115	114					10																	63188763		1939	4141	6080	SO:0001583	missense	219623					integral to membrane		g.chr10:63188763G>C	BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.526C>G	10.37:g.63188763G>C	ENSP00000382237:p.Gln176Glu					TMEM26_ENST00000399293.1_Missense_Mutation_p.Q176E	p.Q176E	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN			4	894	-	Prostate(12;0.0112)		176					Q6ZVM0|Q8IVN9	Missense_Mutation	SNP	ENST00000399298.3	37	c.526C>G	CCDS41530.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655870	0.47467	.	.	ENSG00000196932	ENST00000399298;ENST00000277749;ENST00000399293	.	.	.	5.16	3.28	0.37604	.	0.357546	0.32785	N	0.005652	T	0.57784	0.2077	L	0.50919	1.6	0.53688	D	0.999978	B	0.12630	0.006	B	0.20184	0.028	T	0.55823	-0.8080	9	0.51188	T	0.08	-10.4701	15.2267	0.73357	0.0:0.3595:0.6405:0.0	.	176	Q6ZUK4	TMM26_HUMAN	E	176;86;176	.	ENSP00000277749:Q86E	Q	-	1	0	TMEM26	62858769	1.000000	0.71417	0.974000	0.42286	0.977000	0.68977	6.130000	0.71663	0.664000	0.31047	0.591000	0.81541	CAA		0.448	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	NM_178505		12	33	0	0	0	0.013537	0	12	33					C	63188763	G	C	63188763	3	2	359	1	0	0	0	0	1	0	0	0	16148	1299	45	4	592	4	TMEM26	10	63188763	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	35668040	63188763	72345984	43	7609											
EHBP1L1	254102	broad.mit.edu	37	chr11	65349703	65349703	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ggagcacctggtattgagggGacaggcctggagcagggccc	18	10	0	1			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr11:65349703G>C	ENST00000309295.4	+	9	1825	c.1560G>C	c.(1558-1560)ggG>ggC	p.G520G		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	520						membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GTATTGAGGGGACAGGCCTGG	0.637																																						ENST00000309295.4																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(1558-1560)ggG>ggC		EH domain binding protein 1-like 1							17	19	18					11																	65349703		1944	4129	6073	SO:0001819	synonymous_variant	254102							g.chr11:65349703G>C	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.1560G>C	11.37:g.65349703G>C							p.G520G	NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN			9	1825	+			520					Q8TB89|Q9H7M7	Silent	SNP	ENST00000309295.4	37	c.1560G>C	CCDS44649.1																																																																																				0.637	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		4	14	0	0	0	0.000602	0	4	14					C	65349703	G	C	65349703	2	2	359	1	0	0	0	0	0	0	0	1	4976	1161	41	4		4	EHBP1L1	11	65349703	Silent	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08		65349703	69656813	44	7610											
ANO1	55107	broad.mit.edu	37	chr11	70007786	70007786	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcttcaaggctttcctgctGaagtttgtgaattcctacac	7	10	2	2			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr11:70007786G>A	ENST00000355303.5	+	18	2144	c.1839G>A	c.(1837-1839)ctG>ctA	p.L613L	ANO1_ENST00000530676.1_Silent_p.L467L|ANO1_ENST00000398543.2_Silent_p.L467L|ANO1_ENST00000316296.5_Silent_p.L555L|ANO1_ENST00000531349.1_Silent_p.L322L|ANO1_ENST00000538023.1_Silent_p.L613L	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	613					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	CTTTCCTGCTGAAGTTTGTGA	0.527																																						ENST00000355303.5																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						c.(1837-1839)ctG>ctA		anoctamin 1, calcium activated chloride channel							198	204	202					11																	70007786		1945	4136	6081	SO:0001819	synonymous_variant	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:70007786G>A	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	21625	protein-coding gene	gene with protein product		610108	"oral cancer overexpressed 2", "transmembrane protein 16A"	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.1839G>A	11.37:g.70007786G>A						ANO1_ENST00000531349.1_Silent_p.L322L|ANO1_ENST00000530676.1_Silent_p.L467L|ANO1_ENST00000538023.1_Silent_p.L613L|ANO1_ENST00000398543.2_Silent_p.L467L|ANO1_ENST00000316296.5_Silent_p.L555L	p.L613L	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN			18	2144	+			613					A8KAM3|Q8IYY8|Q8N7V3	Silent	SNP	ENST00000355303.5	37	c.1839G>A	CCDS44663.1																																																																																				0.527	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		20	103	0	0	0	0.012319	0	20	103					A	70007786	G	A	70007786	2	1	359	1	0	0	0	0	0	0	0	1	695	1277	45	2		2	ANO1	11	70007786	Silent	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	4658083	70007786	64998730	45	7611											
GRIN2B	2904	broad.mit.edu	37	chr12	13769559	13769559	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cggggccacacatagtacttCatctgcagggacttgtcttt	10	11	3	0			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr12:13769559C>T	ENST00000609686.1	-	5	1367	c.1158G>A	c.(1156-1158)atG>atA	p.M386I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	386					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|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)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CATAGTACTTCATCTGCAGGG	0.502																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(1156-1158)atG>atA		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						164	152	156					12																	13769559		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13769559C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1158G>A	12.37:g.13769559C>T	ENSP00000477455:p.Met386Ile						p.M386I	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			5	1367	-			386					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.1158G>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.558937	0.65538	.	.	ENSG00000150086	ENST00000279593	T	0.05199	3.48	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.10294	0.0252	L	0.39898	1.24	0.80722	D	1	B	0.33807	0.426	B	0.38225	0.268	T	0.08472	-1.0720	10	0.52906	T	0.07	.	19.4461	0.94847	0.0:1.0:0.0:0.0	.	386	Q13224	NMDE2_HUMAN	I	386	ENSP00000279593:M386I	ENSP00000279593:M386I	M	-	3	0	GRIN2B	13660826	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.994000	0.70623	2.575000	0.86900	0.557000	0.71058	ATG		0.502	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			11	67	0	0	0	0.013537	0	11	67					T	13769559	C	T	13769559	3	4	359	1	0	0	0	0	1	0	0	0	6780	826	29	2	3332	2	GRIN2B	12	13769559	Missense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08		13769559	120082336	46	7612											
FAIM2	23017	broad.mit.edu	37	chr12	50264321	50264321	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccaaaaagctgcaggaagAaggtgaagatatagatgatg	13	4	0	5			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr12:50264321A>G	ENST00000320634.3	-	12	1011	c.917T>C	c.(916-918)tTc>tCc	p.F306S	FAIM2_ENST00000550890.1_Missense_Mutation_p.F260S	NM_012306.3	NP_036438.2	Q9BWQ8	LFG2_HUMAN	Fas apoptotic inhibitory molecule 2	306					apoptotic process (GO:0006915)|cerebellar granular layer development (GO:0021681)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum development (GO:0021549)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of neuron apoptotic process (GO:0043524)|regulation of neuron apoptotic process (GO:0043523)|response to ischemia (GO:0002931)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|postsynaptic membrane (GO:0045211)				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						CTGCAGGAAGAAGGTGAAGAT	0.552																																						ENST00000320634.3																			0				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						c.(916-918)tTc>tCc		Fas apoptotic inhibitory molecule 2							102	89	94					12																	50264321		2203	4300	6503	SO:0001583	missense	23017				anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane		g.chr12:50264321A>G	AB023167	CCDS8791.1	12q13	2010-03-18				ENSG00000135472			17067	protein-coding gene	gene with protein product	"transmembrane BAX inhibitor motif containing 2"	604306				10231032, 10535980	Standard	NM_012306		Approved	KIAA0950, LFG, NMP35, LIFEGUARD, TMBIM2, LFG2	uc001rvj.2	Q9BWQ8	OTTHUMG00000169808	ENST00000320634.3:c.917T>C	12.37:g.50264321A>G	ENSP00000321951:p.Phe306Ser					FAIM2_ENST00000550890.1_Missense_Mutation_p.F260S	p.F306S	NM_012306.3	NP_036438.2	Q9BWQ8	FAIM2_HUMAN			12	1011	-			306					A8K1W6|B3KR08|Q9UJY9|Q9Y2F7	Missense_Mutation	SNP	ENST00000320634.3	37	c.917T>C	CCDS8791.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.637146	0.87760	.	.	ENSG00000135472	ENST00000320634;ENST00000550890;ENST00000550635;ENST00000552669	T;T;T	0.40225	1.04;1.04;1.04	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.55705	0.1937	L	0.49571	1.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51529	-0.8694	10	0.29301	T	0.29	-17.5054	12.4394	0.55617	1.0:0.0:0.0:0.0	.	306	Q9BWQ8	FAIM2_HUMAN	S	306;260;306;264	ENSP00000321951:F306S;ENSP00000450132:F260S;ENSP00000446771:F264S	ENSP00000321951:F306S	F	-	2	0	FAIM2	48550588	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.471000	0.80985	1.838000	0.53458	0.460000	0.39030	TTC		0.552	FAIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405984.1	NM_012306		30	49	0	0	0	0.012213	0	30	49					G	50264321	A	G	50264321	3	3	359	1	0	0	0	0	1	0	0	0	5376	246	9	3	37	3	FAIM2	12	50264321	Missense_Mutation	SNP	A	TCGA-ET-A2MY-01A-11D-A18F-08	36494762	50264321	83587574	47	7613											
PIP4K2C	79837	broad.mit.edu	37	chr12	57985101	57985101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcggtcccaccagccaCggtatcggcggcgacagcag	12	17	0	0			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr12:57985101C>T	ENST00000354947.5	+	1	45	c.29C>T	c.(28-30)aCg>aTg	p.T10M	PIP4K2C_ENST00000550465.1_Missense_Mutation_p.T10M|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.T10M|PIP4K2C_ENST00000422156.3_Missense_Mutation_p.T10M			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	10						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					CCACCAGCCACGGTATCGGCG	0.672																																						ENST00000354947.5																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(28-30)aCg>aTg		phosphatidylinositol-5-phosphate 4-kinase, type II, gamma							43	52	49					12																	57985101		2202	4297	6499	SO:0001583	missense	79837					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	g.chr12:57985101C>T	AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.29C>T	12.37:g.57985101C>T	ENSP00000347032:p.Thr10Met					PIP4K2C_ENST00000422156.3_Missense_Mutation_p.T10M|PIP4K2C_ENST00000550465.1_Missense_Mutation_p.T10M|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.T10M	p.T10M			Q8TBX8	PI42C_HUMAN			1	45	+	Melanoma(17;0.122)		10					B2RDL3|B4DM11|B4DY44|Q9H6N2	Missense_Mutation	SNP	ENST00000354947.5	37	c.29C>T	CCDS8946.1	.	.	.	.	.	.	.	.	.	.	C	6.823	0.520903	0.13005	.	.	ENSG00000166908	ENST00000422156;ENST00000540759;ENST00000436866;ENST00000551772;ENST00000550465;ENST00000354947	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	3.42	0.338	0.15974	.	0.590596	0.17290	N	0.179693	T	0.25717	0.0626	N	0.14661	0.345	0.09310	N	1	B;B;B	0.17667	0.001;0.023;0.023	B;B;B	0.04013	0.001;0.001;0.001	T	0.13229	-1.0517	10	0.44086	T	0.13	-5.145	6.755	0.23507	0.0:0.5544:0.3406:0.105	.	10;10;10	B4DM11;B4DY44;Q8TBX8	.;.;PI42C_HUMAN	M	10	ENSP00000412035:T10M;ENSP00000439878:T10M;ENSP00000450197:T10M;ENSP00000447390:T10M;ENSP00000347032:T10M	ENSP00000347032:T10M	T	+	2	0	PIP4K2C	56271368	0.952000	0.32445	0.004000	0.12327	0.045000	0.14185	1.037000	0.30241	0.064000	0.16427	0.313000	0.20887	ACG		0.672	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407644.1	NM_024779		21	67	0	0	0	0.014323	0	21	67					T	57985101	C	T	57985101	3	4	359	1	0	0	0	0	1	0	0	0	11938	536	19	1	31	1	PIP4K2C	12	57985101	Missense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	7720780	57985101	75866794	48	7614											
CAND1	55832	broad.mit.edu	37	chr12	67699222	67699222	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggaaagggctatttccTgtatgggacaaattatttgc	10	6	1	0			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr12:67699222T>A	ENST00000545606.1	+	10	2211	c.1774T>A	c.(1774-1776)Tgt>Agt	p.C592S		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	592					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GGCTATTTCCTGTATGGGACA	0.368																																						ENST00000545606.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35						c.(1774-1776)Tgt>Agt		cullin-associated and neddylation-dissociated 1							119	120	120					12																	67699222		2203	4300	6503	SO:0001583	missense	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67699222T>A		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"TBP interacting protein"	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.1774T>A	12.37:g.67699222T>A	ENSP00000442318:p.Cys592Ser						p.C592S	NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	10	2211	+			592					B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	c.1774T>A	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	T	15.64	2.892261	0.52014	.	.	ENSG00000111530	ENST00000545606;ENST00000299218	T	0.59906	0.23	5.73	5.73	0.89815	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75968	0.3922	M	0.78285	2.405	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.77675	-0.2499	9	.	.	.	-8.9156	16.013	0.80417	0.0:0.0:0.0:1.0	.	592	Q86VP6	CAND1_HUMAN	S	592	ENSP00000442318:C592S	.	C	+	1	0	CAND1	65985489	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.981000	0.88123	2.183000	0.69458	0.528000	0.53228	TGT		0.368	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		7	116	0	0	0	0.001984	0	7	116					A	67699222	T	A	67699222	3	1	359	1	0	0	0	0	1	0	0	0	2615	1580	55	5	1812	5	CAND1	12	67699222	Missense_Mutation	SNP	T	TCGA-ET-A2MY-01A-11D-A18F-08	9714121	67699222	66152673	49	7615											
VEZT	55591	broad.mit.edu	37	chr12	95660246	95660246	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atttgtgtatctggtcataaGagctttgagattatggagga	12	3	2	2			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr12:95660246G>C	ENST00000436874.1	+	5	653	c.548G>C	c.(547-549)aGa>aCa	p.R183T	VEZT_ENST00000261219.6_Missense_Mutation_p.R135T|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	183					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						CTGGTCATAAGAGCTTTGAGA	0.428																																						ENST00000436874.1																			0				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						c.(547-549)aGa>aCa		vezatin, adherens junctions transmembrane protein							244	233	237					12																	95660246		1903	4128	6031	SO:0001583	missense	55591					acrosomal vesicle|adherens junction|integral to membrane|nucleus		g.chr12:95660246G>C	AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.548G>C	12.37:g.95660246G>C	ENSP00000410083:p.Arg183Thr					VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.R135T	p.R183T	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN			5	653	+			183					Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	ENST00000436874.1	37	c.548G>C	CCDS44954.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.174339	0.38413	.	.	ENSG00000028203	ENST00000436874;ENST00000549002;ENST00000261219;ENST00000397792;ENST00000397796	T;T;T;T	0.61627	1.0;0.09;1.0;1.0	5.09	4.21	0.49690	.	0.046432	0.85682	D	0.000000	T	0.60340	0.2261	M	0.64997	1.995	0.45194	D	0.998208	P;B;B;B	0.36683	0.565;0.031;0.025;0.031	P;B;B;B	0.46543	0.52;0.048;0.017;0.026	T	0.56306	-0.8001	10	0.27082	T	0.32	-31.0163	9.5674	0.39407	0.0755:0.1418:0.7828:0.0	.	183;183;135;135	C9J154;Q9HBM0;F8W8C2;F2Z3A6	.;VEZA_HUMAN;.;.	T	183;153;135;135;183	ENSP00000410083:R183T;ENSP00000449591:R153T;ENSP00000261219:R135T;ENSP00000380894:R135T	ENSP00000261219:R135T	R	+	2	0	VEZT	94184377	1.000000	0.71417	0.904000	0.35570	0.460000	0.32559	4.695000	0.61767	1.261000	0.44149	0.650000	0.86243	AGA		0.428	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		38	224	0	0	0	0.004289	0	38	224					C	95660246	G	C	95660246	3	2	359	1	0	0	0	0	1	0	0	0	17153	942	33	4	566	4	VEZT	12	95660246	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	27961024	95660246	38191649	50	7616											
PSPC1	55269	broad.mit.edu	37	chr13	20325529	20325529	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgctgctgcttttccatttcAtcaagagccttccatcgaga	7	13	2	2			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr13:20325529A>T	ENST00000338910.4	-	4	1008	c.849T>A	c.(847-849)gaT>gaA	p.D283E		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	283	Sufficient for paraspeckles localization.|Sufficient for perinucleolar caps localization and interaction with NONO.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D283E(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TTTCCATTTCATCAAGAGCCT	0.423																																						ENST00000338910.4																			1	Substitution - Missense(1)	p.D283E(1)	skin(1)	breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(847-849)gaT>gaA		paraspeckle component 1							174	157	162					13																	20325529		1910	4131	6041	SO:0001583	missense	55269				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding	g.chr13:20325529A>T	AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"RNA binding motif (RRM) containing"	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.849T>A	13.37:g.20325529A>T	ENSP00000343966:p.Asp283Glu						p.D283E	NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)	4	1008	-		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	283			Sufficient for paraspeckles localization.|Sufficient for perinucleolar caps localization and interaction with NONO.		Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Missense_Mutation	SNP	ENST00000338910.4	37	c.849T>A	CCDS41870.1	.	.	.	.	.	.	.	.	.	.	A	13.41	2.230303	0.39399	.	.	ENSG00000121390	ENST00000338910;ENST00000422828	T	0.14516	2.5	4.83	-2.3	0.06785	.	0.114166	0.56097	D	0.000023	T	0.10380	0.0254	L	0.58810	1.83	0.44492	D	0.997437	B	0.12630	0.006	B	0.17098	0.017	T	0.41734	-0.9492	10	0.05959	T	0.93	-25.7308	10.7896	0.46426	0.5234:0.0:0.4766:0.0	.	283	Q8WXF1	PSPC1_HUMAN	E	283;223	ENSP00000343966:D283E	ENSP00000343966:D283E	D	-	3	2	PSPC1	19223529	0.965000	0.33210	0.996000	0.52242	0.994000	0.84299	0.282000	0.18829	-0.287000	0.09064	0.454000	0.30748	GAT		0.423	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044037.2			6	159	0	0	0	0.001168	0	6	159					T	20325529	A	T	20325529	3	4	359	1	0	0	0	0	1	0	0	0	12716	214	8	5	746	5	PSPC1	13	20325529	Missense_Mutation	SNP	A	TCGA-ET-A2MY-01A-11D-A18F-08		20325529	94844349	51	7617											
SACS	26278	broad.mit.edu	37	chr13	23909544	23909544	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctccatacttgaaaagcctGatctattacaaattagccac	4	11	2	2			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr13:23909544G>A	ENST00000382292.3	-	9	8744	c.8471C>T	c.(8470-8472)tCa>tTa	p.S2824L	SACS_ENST00000382298.3_Missense_Mutation_p.S2824L|SACS_ENST00000402364.1_Missense_Mutation_p.S2074L			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2824					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGAAAAGCCTGATCTATTACA	0.393																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(8470-8472)tCa>tTa		spastic ataxia of Charlevoix-Saguenay (sacsin)							93	88	90					13																	23909544		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23909544G>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.8471C>T	13.37:g.23909544G>A	ENSP00000371729:p.Ser2824Leu					SACS_ENST00000402364.1_Missense_Mutation_p.S2074L|SACS_ENST00000382292.3_Missense_Mutation_p.S2824L	p.S2824L	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	9059	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	2824					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.8471C>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	15.84	2.950861	0.53186	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.86562	-1.99;-2.14;-1.99	5.65	5.65	0.86999	.	0.066663	0.64402	D	0.000007	T	0.78451	0.4285	N	0.19112	0.55	0.49389	D	0.999787	B	0.30824	0.296	B	0.26094	0.066	T	0.74957	-0.3487	10	0.10902	T	0.67	.	19.7855	0.96434	0.0:0.0:1.0:0.0	.	2824	Q9NZJ4	SACS_HUMAN	L	2824;2074;2824	ENSP00000371729:S2824L;ENSP00000385844:S2074L;ENSP00000371735:S2824L	ENSP00000371729:S2824L	S	-	2	0	SACS	22807544	1.000000	0.71417	0.622000	0.29159	0.972000	0.66771	9.476000	0.97823	2.684000	0.91462	0.555000	0.69702	TCA		0.393	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		12	53	0	0	0	0.010729	0	12	53					A	23909544	G	A	23909544	3	1	359	1	0	0	0	0	1	0	0	0	13804	1294	45	2	5272	2	SACS	13	23909544	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	3584015	23909544	91260334	52	7618											
UGGT2	55757	broad.mit.edu	37	chr13	96555252	96555252	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cctctagaaatagctgtgttCtcttcatttatttttgatgt	6	7	3	2			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr13:96555252C>G	ENST00000376747.3	-	21	2428	c.2358G>C	c.(2356-2358)gaG>gaC	p.E786D		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	786					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TAGCTGTGTTCTCTTCATTTA	0.333																																						ENST00000376747.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						c.(2356-2358)gaG>gaC		UDP-glucose glycoprotein glucosyltransferase 2							76	78	78					13																	96555252		2202	4298	6500	SO:0001583	missense	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96555252C>G	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"UDP-glucose:glycoprotein glucosyltransferase 2"	605898	"UDP-glucose ceramide glucosyltransferase-like 2"	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.2358G>C	13.37:g.96555252C>G	ENSP00000365938:p.Glu786Asp						p.E786D	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN			21	2428	-			786					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	c.2358G>C	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.540223	0.27563	.	.	ENSG00000102595	ENST00000376747	T	0.08458	3.09	5.66	-3.31	0.04988	.	0.225320	0.44902	D	0.000404	T	0.06554	0.0168	L	0.51853	1.615	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.34079	-0.9843	10	0.21014	T	0.42	-19.0103	9.1435	0.36919	0.1089:0.3653:0.0:0.5258	.	786	Q9NYU1	UGGG2_HUMAN	D	786	ENSP00000365938:E786D	ENSP00000365938:E786D	E	-	3	2	UGGT2	95353253	0.126000	0.22350	0.946000	0.38457	0.992000	0.81027	-0.784000	0.04633	-0.671000	0.05274	-0.142000	0.14014	GAG		0.333	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		7	40	0	0	0	0.001984	0	7	40					G	96555252	C	G	96555252	3	3	359	1	0	0	0	0	1	0	0	0	16939	912	32	4	2268	4	UGGT2	13	96555252	Missense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	72645708	96555252	18614626	53	7619											
FAM179B	23116	broad.mit.edu	37	chr14	45433228	45433228	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagctttagaagcttttgCcgtattggcatcatcaatgg	10	8	2	1			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr14:45433228C>T	ENST00000361577.3	+	1	1818	c.1604C>T	c.(1603-1605)gCc>gTc	p.A535V	KLHL28_ENST00000553817.1_5'UTR|FAM179B_ENST00000382233.2_Missense_Mutation_p.A535V|KLHL28_ENST00000355081.2_5'Flank|FAM179B_ENST00000361462.2_Missense_Mutation_p.A535V|KLHL28_ENST00000396128.4_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	535										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GAAGCTTTTGCCGTATTGGCA	0.453																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(1603-1605)gCc>gTc		family with sequence similarity 179, member B							118	113	115					14																	45433228		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45433228C>T	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.1604C>T	14.37:g.45433228C>T	ENSP00000355045:p.Ala535Val					KLHL28_ENST00000553817.1_5'UTR|FAM179B_ENST00000382233.2_Missense_Mutation_p.A535V|FAM179B_ENST00000361577.3_Missense_Mutation_p.A535V	p.A535V			Q9Y4F4	F179B_HUMAN			1	1787	+			535					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.1604C>T	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232669	0.79688	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.65549	-0.16;-0.16;-0.16	4.69	4.69	0.59074	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.72819	0.3508	L	0.45051	1.395	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.997;0.999;0.996	T	0.71731	-0.4504	10	0.38643	T	0.18	-12.067	17.4048	0.87470	0.0:1.0:0.0:0.0	.	535;535;535;535	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	V	535	ENSP00000355045:A535V;ENSP00000354917:A535V;ENSP00000371668:A535V	ENSP00000354917:A535V	A	+	2	0	FAM179B	44502978	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.364000	0.79526	2.427000	0.82271	0.561000	0.74099	GCC		0.453	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		4	145	0	0	0	0.009096	0	4	145					T	45433228	C	T	45433228	3	4	359	1	0	0	0	0	1	0	0	0	5506	739	26	2	1606	2	FAM179B	14	45433228	Missense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08		45433228	61916312	54	7620											
FCF1	51077	broad.mit.edu	37	chr14	75190043	75190043	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggcagaagtatcgagtggctCtaaggtaggaaggaggtaaa	16	4	1	1			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr14:75190043C>G	ENST00000341162.4	+	5	415	c.361C>G	c.(361-363)Cta>Gta	p.L121V	FCF1_ENST00000553615.1_Missense_Mutation_p.L106V|FCF1_ENST00000534938.2_Missense_Mutation_p.L109V	NM_015962.4	NP_057046.1	Q9Y324	FCF1_HUMAN	FCF1 rRNA-processing protein	121	PINc.				rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.0037)		TCGAGTGGCTCTAAGGTAGGA	0.378																																						ENST00000341162.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						c.(361-363)Cta>Gta		FCF1 rRNA-processing protein							107	102	104					14																	75190043		2203	4300	6503	SO:0001583	missense	51077				rRNA processing	nucleolus		g.chr14:75190043C>G	AF132969	CCDS9832.1	14q24.2	2013-05-03	2013-05-03	2007-01-30	ENSG00000119616	ENSG00000119616			20220	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 111", "FCF1 small subunit (SSU) processome component homolog (S. cerevisiae)"	C14orf111		16762320	Standard	XR_245690		Approved	CGI-35, Bka, UTP24	uc001xqh.3	Q9Y324		ENST00000341162.4:c.361C>G	14.37:g.75190043C>G	ENSP00000344393:p.Leu121Val					FCF1_ENST00000553615.1_Missense_Mutation_p.L106V|FCF1_ENST00000534938.2_Missense_Mutation_p.L109V	p.L121V	NM_015962.4	NP_057046.1	Q9Y324	FCF1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0037)	5	415	+			121			PINc.		Q86TW8|Q8TBL8	Missense_Mutation	SNP	ENST00000341162.4	37	c.361C>G	CCDS9832.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.427017	0.62733	.	.	ENSG00000119616	ENST00000554590;ENST00000341162;ENST00000534938;ENST00000553615	.	.	.	5.39	2.6	0.31112	Nucleotide binding protein, PINc (1);	0.000000	0.85682	D	0.000000	T	0.77003	0.4067	M	0.90252	3.1	0.80722	D	1	D;D	0.67145	0.996;0.957	D;D	0.68039	0.954;0.955	T	0.74300	-0.3710	9	0.62326	D	0.03	.	4.6824	0.12741	0.1459:0.5516:0.0:0.3025	.	121;106	Q9Y324;G3V5S9	FCF1_HUMAN;.	V	32;121;109;106	.	ENSP00000344393:L121V	L	+	1	2	FCF1	74259796	0.913000	0.31002	0.995000	0.50966	0.917000	0.54804	1.800000	0.38833	0.403000	0.25479	-0.136000	0.14681	CTA		0.378	FCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413622.1	NM_015962		9	32	0	0	0	0.004482	0	9	32					G	75190043	C	G	75190043	3	3	359	1	0	0	0	0	1	0	0	0	5777	912	32	4	379	4	FCF1	14	75190043	Missense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	29756815	75190043	32159497	55	7621											
SERPINA5	5104	broad.mit.edu	37	chr14	95058528	95058528	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aacaggccctttctgatgttCattgtggataacaacatcct	7	10	2	1			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr14:95058528C>T	ENST00000554866.1	+	5	1287	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F	SERPINA5_ENST00000553780.1_Silent_p.F391F|SERPINA5_ENST00000329597.7_Silent_p.F391F|RP11-986E7.7_ENST00000553947.1_Intron|SERPINA5_ENST00000554276.1_Silent_p.F391F			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	391					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TTCTGATGTTCATTGTGGATA	0.562																																						ENST00000329597.7																			0				endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36						c.(1171-1173)ttC>ttT		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	Drotrecogin alfa(DB00055)|Urokinase(DB00013)						214	232	226					14																	95058528		2203	4300	6503	SO:0001819	synonymous_variant	5104				fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr14:95058528C>T	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"Serine (or cysteine) peptidase inhibitors"	8723	protein-coding gene	gene with protein product		601841	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.1173C>T	14.37:g.95058528C>T						SERPINA5_ENST00000553780.1_Silent_p.F391F|SERPINA5_ENST00000554866.1_Silent_p.F391F|SERPINA3_ENST00000553947.1_Intron|SERPINA5_ENST00000554276.1_Silent_p.F391F	p.F391F	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	6	1383	+			391					Q07616|Q9UG30	Silent	SNP	ENST00000554866.1	37	c.1173C>T	CCDS9928.1																																																																																				0.562	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		57	360	0	0	0	0.01441	0	57	360					T	95058528	C	T	95058528	2	4	359	1	0	0	0	0	0	0	0	1	14092	825	29	2		2	SERPINA5	14	95058528	Silent	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	19868485	95058528	12291012	56	7622											
CASC4	113201	broad.mit.edu	37	chr15	44630079	44630079	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agataagaatgaagaaccctCaagcaatcatattccacatg	6	9	2	4			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr15:44630079C>G	ENST00000345795.2	+	5	965	c.695C>G	c.(694-696)tCa>tGa	p.S232*	CASC4_ENST00000360824.3_3'UTR|CASC4_ENST00000299957.6_Nonsense_Mutation_p.S232*	NM_177974.2	NP_816929.1	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	232						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		GAAGAACCCTCAAGCAATCAT	0.299																																						ENST00000299957.6																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17						c.(694-696)tCa>tGa		cancer susceptibility candidate 4							85	84	84					15																	44630079		2198	4295	6493	SO:0001587	stop_gained	113201					integral to membrane		g.chr15:44630079C>G	AF103804	CCDS10108.1, CCDS10109.1	15q15.1	2010-11-24			ENSG00000166734	ENSG00000166734			24892	protein-coding gene	gene with protein product						10497265	Standard	NM_138423		Approved	H63, DKFZp459F1927	uc001ztp.3	Q6P4E1	OTTHUMG00000131133	ENST00000345795.2:c.695C>G	15.37:g.44630079C>G	ENSP00000335063:p.Ser232*					CASC4_ENST00000345795.2_Nonsense_Mutation_p.S232*|CASC4_ENST00000360824.3_3'UTR	p.S232*	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)	5	994	+		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)	232					B4DPZ6|G5E934|Q6UY45|Q96EM1	Nonsense_Mutation	SNP	ENST00000345795.2	37	c.695C>G	CCDS10109.1	.	.	.	.	.	.	.	.	.	.	C	35	5.435891	0.96168	.	.	ENSG00000166734	ENST00000299957;ENST00000345795;ENST00000416522	.	.	.	4.89	4.89	0.63831	.	0.562584	0.17612	N	0.168033	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	15.0683	0.72014	0.0:1.0:0.0:0.0	.	.	.	.	X	232;232;211	.	ENSP00000299957:S232X	S	+	2	0	CASC4	42417371	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.129000	0.57957	2.536000	0.85505	0.561000	0.74099	TCA		0.299	CASC4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253816.1	NM_138423		3	58	0	0	0	0.004672	0	3	58					G	44630079	C	G	44630079	4	3	359	1	0	0	0	0	0	1	0	0	2662	838	29	4	713	4	CASC4	15	44630079	Nonsense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08		44630079	57901313	57	7623											
DMXL2	23312	broad.mit.edu	37	chr15	51791873	51791873	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgcaccgactcccactgtaAgaatgtgggagccatcttct	9	13	2	1			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr15:51791873A>G	ENST00000251076.5	-	18	3835	c.3548T>C	c.(3547-3549)cTt>cCt	p.L1183P	DMXL2_ENST00000543779.2_Missense_Mutation_p.L1183P|DMXL2_ENST00000449909.3_Intron|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1183						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCCCACTGTAAGAATGTGGGA	0.408																																						ENST00000251076.5																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(3547-3549)cTt>cCt		Dmx-like 2							67	63	64					15																	51791873		2195	4293	6488	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51791873A>G	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.3548T>C	15.37:g.51791873A>G	ENSP00000251076:p.Leu1183Pro					DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Missense_Mutation_p.L1183P	p.L1183P	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	18	3835	-			1183					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.3548T>C	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	A	17.17	3.322367	0.60634	.	.	ENSG00000104093	ENST00000251076;ENST00000543779	T;T	0.61392	0.12;0.11	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.77123	0.4084	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	T	0.81035	-0.1115	10	0.87932	D	0	.	15.1326	0.72536	1.0:0.0:0.0:0.0	.	1183;1183	F5GWF1;Q8TDJ6	.;DMXL2_HUMAN	P	1183	ENSP00000251076:L1183P;ENSP00000441858:L1183P	ENSP00000251076:L1183P	L	-	2	0	DMXL2	49579165	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.930000	0.92872	1.973000	0.57446	0.482000	0.46254	CTT		0.408	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		3	40	0	0	0	0.004672	0	3	40					G	51791873	A	G	51791873	3	3	359	1	0	0	0	0	1	0	0	0	4595	72	3	3	5669	3	DMXL2	15	51791873	Missense_Mutation	SNP	A	TCGA-ET-A2MY-01A-11D-A18F-08	7161794	51791873	50739519	58	7624											
DYX1C1	161582	broad.mit.edu	37	chr15	55727220	55727220	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atggctaaattatatgcattGatagctgccaaatagttttc	7	6	0	1			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr15:55727220G>C	ENST00000321149.3	-	8	1297	c.930C>G	c.(928-930)atC>atG	p.I310M	DYX1C1_ENST00000380679.1_Missense_Mutation_p.I310M|DYX1C1_ENST00000457155.2_Missense_Mutation_p.I310M|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000448430.2_Missense_Mutation_p.I310M|DYX1C1_ENST00000348518.3_Missense_Mutation_p.I310M	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	310					cilium movement (GO:0003341)|determination of left/right symmetry (GO:0007368)|inner dynein arm assembly (GO:0036159)|neuron migration (GO:0001764)|outer dynein arm assembly (GO:0036158)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of proteasomal protein catabolic process (GO:0061136)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		TATATGCATTGATAGCTGCCA	0.318																																						ENST00000321149.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(928-930)atC>atG		dyslexia susceptibility 1 candidate 1							79	81	80					15																	55727220		2191	4290	6481	SO:0001583	missense	161582				neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding	g.chr15:55727220G>C		CCDS10154.1, CCDS32243.1, CCDS32244.1	15q21.3	2014-09-11			ENSG00000256061	ENSG00000256061		"Tetratricopeptide (TTC) repeat domain containing"	21493	protein-coding gene	gene with protein product		608706				12954984	Standard	NM_130810		Approved	EKN1, FLJ37882, CILD25	uc002adc.3	Q8WXU2	OTTHUMG00000132008	ENST00000321149.3:c.930C>G	15.37:g.55727220G>C	ENSP00000323275:p.Ile310Met					DYX1C1_ENST00000448430.2_Missense_Mutation_p.I310M|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000348518.3_Missense_Mutation_p.I310M|DYX1C1_ENST00000380679.1_Missense_Mutation_p.I310M|DYX1C1_ENST00000457155.2_Missense_Mutation_p.I310M	p.I310M	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN		all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)	8	1297	-			310					Q6P5Y9|Q8N1S6	Missense_Mutation	SNP	ENST00000321149.3	37	c.930C>G	CCDS10154.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.772341	0.49680	.	.	ENSG00000256061	ENST00000448430;ENST00000380679;ENST00000457155;ENST00000321149;ENST00000348518	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.23	0.054	0.14308	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.324515	0.26715	U	0.022866	T	0.73345	0.3575	M	0.80183	2.485	0.23271	N	0.998004	P;P;D	0.57257	0.913;0.754;0.979	P;D;P	0.63033	0.805;0.91;0.79	T	0.63589	-0.6603	10	0.87932	D	0	-12.6876	1.7361	0.02942	0.3841:0.2161:0.2868:0.113	.	310;310;310	Q8WXU2-3;Q8WXU2;Q8WXU2-2	.;DYXC1_HUMAN;.	M	310	ENSP00000403412:I310M;ENSP00000370054:I310M;ENSP00000402640:I310M;ENSP00000323275:I310M;ENSP00000299561:I310M	ENSP00000323275:I310M	I	-	3	3	DYX1C1	53514512	0.991000	0.36638	0.881000	0.34555	0.895000	0.52256	0.329000	0.19698	-0.149000	0.11215	-1.012000	0.02466	ATC		0.318	DYX1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254976.1	NM_130810		13	75	0	0	0	0.001855	0	13	75					C	55727220	G	C	55727220	3	2	359	1	0	0	0	0	1	0	0	0	4862	1280	45	4	447	4	DYX1C1	15	55727220	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	3935347	55727220	46804172	59	7625											
PRC1	9055	broad.mit.edu	37	chr15	91523559	91523559	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagctccactcgaattgcctCaatcactttcttcatgtttt	4	13	4	0			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr15:91523559C>T	ENST00000361188.5	-	7	2094	c.883G>A	c.(883-885)Gag>Aag	p.E295K	PRC1_ENST00000394249.3_Missense_Mutation_p.E295K|PRC1_ENST00000442656.2_Missense_Mutation_p.E254K|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000361919.3_Missense_Mutation_p.E295K					protein regulator of cytokinesis 1											endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					CGAATTGCCTCAATCACTTTC	0.443																																						ENST00000361188.5																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25						c.(883-885)Gag>Aag		protein regulator of cytokinesis 1							200	164	176					15																	91523559		2198	4298	6496	SO:0001583	missense	9055				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding	g.chr15:91523559C>T	AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"anaphase spindle elongation 1 homolog (S. cerevisiae)"	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.883G>A	15.37:g.91523559C>T	ENSP00000354679:p.Glu295Lys					PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000394249.3_Missense_Mutation_p.E295K|PRC1_ENST00000361919.3_Missense_Mutation_p.E295K|PRC1_ENST00000442656.2_Missense_Mutation_p.E254K	p.E295K			O43663	PRC1_HUMAN			7	2094	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		295			Dimerization.			Missense_Mutation	SNP	ENST00000361188.5	37	c.883G>A	CCDS45352.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575662	0.86645	.	.	ENSG00000198901	ENST00000394249;ENST00000361919;ENST00000361188;ENST00000442656;ENST00000556982	T;T;T;T	0.36878	1.23;1.23;1.23;1.23	6.17	6.17	0.99709	.	0.151419	0.56097	D	0.000021	T	0.53546	0.1803	M	0.81802	2.56	0.50313	D	0.999866	P;P;P;P	0.47106	0.866;0.866;0.866;0.89	P;P;P;P	0.54664	0.644;0.644;0.644;0.758	T	0.48980	-0.8986	10	0.07990	T	0.79	.	16.9727	0.86304	0.0:0.8726:0.1274:0.0	.	254;295;295;295	O43663-3;F8W9B5;O43663-2;O43663	.;.;.;PRC1_HUMAN	K	295;295;295;254;69	ENSP00000377793:E295K;ENSP00000354618:E295K;ENSP00000354679:E295K;ENSP00000409549:E254K	ENSP00000354679:E295K	E	-	1	0	PRC1	89324563	0.998000	0.40836	1.000000	0.80357	0.981000	0.71138	3.861000	0.56002	2.941000	0.99782	0.655000	0.94253	GAG		0.443	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	NM_003981		18	90	0	0	0	0.00499	0	18	90					T	91523559	C	T	91523559	3	4	359	1	0	0	0	0	1	0	0	0	12446	835	29	2	1015	2	PRC1	15	91523559	Missense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	35796339	91523559	11007833	60	7626											
GPR114	221188	broad.mit.edu	37	chr16	57601840	57601840	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctgctcctgaacatcgccttCctgctgagccccgcattcgc	8	18	0	2			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr16:57601840C>G	ENST00000340339.4	+	9	1417	c.894C>G	c.(892-894)ttC>ttG	p.F298L	GPR114_ENST00000349457.3_Missense_Mutation_p.F298L|GPR114_ENST00000394361.4_3'UTR	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	298					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						ACATCGCCTTCCTGCTGAGCC	0.612																																						ENST00000340339.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						c.(892-894)ttC>ttG		G protein-coupled receptor 114							101	78	86					16																	57601840		2198	4300	6498	SO:0001583	missense	221188				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57601840C>G	AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"-", "GPCR / Class B : Orphans"	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.894C>G	16.37:g.57601840C>G	ENSP00000342981:p.Phe298Leu					GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Missense_Mutation_p.F298L	p.F298L	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN			9	1417	+			298					B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Missense_Mutation	SNP	ENST00000340339.4	37	c.894C>G	CCDS10785.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568347	0.65651	.	.	ENSG00000159618	ENST00000394361;ENST00000340339;ENST00000349457	T;T	0.44482	0.92;0.92	4.05	4.05	0.47172	GPCR, family 2-like (1);	0.000000	0.46758	U	0.000274	T	0.63686	0.2532	M	0.82132	2.575	0.54753	D	0.99998	D;P	0.55605	0.972;0.698	D;B	0.66602	0.945;0.207	T	0.70085	-0.4969	10	0.87932	D	0	.	13.4036	0.60898	0.0:1.0:0.0:0.0	.	298;298	B4E148;Q8IZF4	.;GP114_HUMAN	L	298	ENSP00000342981:F298L;ENSP00000290823:F298L	ENSP00000342981:F298L	F	+	3	2	GPR114	56159341	1.000000	0.71417	1.000000	0.80357	0.360000	0.29518	2.512000	0.45485	1.977000	0.57605	0.574000	0.79327	TTC		0.612	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257336.3	NM_153837		6	25	0	0	0	0.001168	0	6	25					G	57601840	C	G	57601840	3	3	359	1	0	0	0	0	1	0	0	0	6631	854	30	4	924	4	GPR114	16	57601840	Missense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08		57601840	32752913	61	7627											
ZFPM1	161882	broad.mit.edu	37	chr16	88600417	88600417	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggacgaccccagccgcacgcTgtgcgaggcctgcaacatcc	12	17	0	0			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr16:88600417T>A	ENST00000319555.3	+	10	2373	c.2051T>A	c.(2050-2052)cTg>cAg	p.L684Q	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	684					atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	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 negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		AGCCGCACGCTGTGCGAGGCC	0.756																																					Pancreas(49;850 1106 29641 32847 38344)	ENST00000319555.3																			0				central_nervous_system(1)|ovary(2)|urinary_tract(1)	4						c.(2050-2052)cTg>cAg		zinc finger protein, FOG family member 1							5	5	5					16																	88600417		1631	3428	5059	SO:0001583	missense	161882				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding	g.chr16:88600417T>A	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.2051T>A	16.37:g.88600417T>A	ENSP00000326630:p.Leu684Gln						p.L684Q	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	10	2373	+			684						Missense_Mutation	SNP	ENST00000319555.3	37	c.2051T>A	CCDS32502.1	.	.	.	.	.	.	.	.	.	.	t	10.86	1.468902	0.26335	.	.	ENSG00000179588	ENST00000319555	T	0.29655	1.56	3.01	3.01	0.34805	Zinc finger, C2H2-like (1);	0.279397	0.29884	U	0.010949	T	0.35219	0.0924	L	0.36672	1.1	0.30520	N	0.768526	D	0.61697	0.99	P	0.56343	0.796	T	0.23297	-1.0192	10	0.45353	T	0.12	.	10.3204	0.43762	0.0:0.0:0.0:1.0	.	684	Q8IX07	FOG1_HUMAN	Q	684	ENSP00000326630:L684Q	ENSP00000326630:L684Q	L	+	2	0	ZFPM1	87127918	0.009000	0.17119	1.000000	0.80357	0.767000	0.43475	0.468000	0.22051	1.159000	0.42565	0.130000	0.15844	CTG		0.756	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			3	11	0	0	0	0.004672	0	3	11					A	88600417	T	A	88600417	3	1	359	1	0	0	0	0	1	0	0	0	17654	1580	55	5	2089	5	ZFPM1	16	88600417	Missense_Mutation	SNP	T	TCGA-ET-A2MY-01A-11D-A18F-08	30998577	88600417	1754336	62	7628											
DNAH9	1770	broad.mit.edu	37	chr17	11515089	11515089	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaagccatgtacagagatgTtgttgcaggtgaggaccagc	13	8	0	2			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr17:11515089T>C	ENST00000262442.4	+	4	964	c.896T>C	c.(895-897)gTt>gCt	p.V299A	DNAH9_ENST00000454412.2_Missense_Mutation_p.V299A|DNAH9_ENST00000579828.1_Missense_Mutation_p.V299A	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	299	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TACAGAGATGTTGTTGCAGGT	0.453																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(895-897)gTt>gCt		dynein, axonemal, heavy chain 9							133	121	125					17																	11515089		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11515089T>C	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.896T>C	17.37:g.11515089T>C	ENSP00000262442:p.Val299Ala					DNAH9_ENST00000579828.1_Missense_Mutation_p.V299A|DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.V299A	p.V299A	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	4	964	+		Breast(5;0.0122)|all_epithelial(5;0.131)	299			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.896T>C	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	T	16.49	3.139180	0.56936	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.60299	0.2;0.2	5.69	5.69	0.88448	Dynein heavy chain, domain-1 (1);	0.312166	0.29602	N	0.011698	T	0.78960	0.4366	M	0.87900	2.915	0.80722	D	1	D;D	0.76494	0.994;0.999	D;D	0.71414	0.936;0.973	T	0.83031	-0.0162	10	0.87932	D	0	.	15.6096	0.76704	0.0:0.0:0.0:1.0	.	299;299	Q9NYC9;E7EP17	DYH9_HUMAN;.	A	299	ENSP00000262442:V299A;ENSP00000414874:V299A	ENSP00000262442:V299A	V	+	2	0	DNAH9	11455814	1.000000	0.71417	0.024000	0.17045	0.173000	0.22820	7.098000	0.76974	2.167000	0.68274	0.496000	0.49642	GTT		0.453	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		4	83	0	0	0	0.009096	0	4	83					C	11515089	T	C	11515089	3	2	359	1	0	0	0	0	1	0	0	0	4608	1725	60	3	910	3	DNAH9	17	11515089	Missense_Mutation	SNP	T	TCGA-ET-A2MY-01A-11D-A18F-08		11515089	69680121	63	7629											
KAT2A	2648	broad.mit.edu	37	chr17	40271403	40271403	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaagacatgagtggtttcGtagcgggggaggctatcaca	14	8	1	2			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr17:40271403G>A	ENST00000225916.5	-	6	986	c.933C>T	c.(931-933)taC>taT	p.Y311Y		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	311					cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GAGTGGTTTCGTAGCGGGGGA	0.582																																						ENST00000225916.5																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(931-933)taC>taT		K(lysine) acetyltransferase 2A							102	98	99					17																	40271403		2203	4300	6503	SO:0001819	synonymous_variant	2648				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity	g.chr17:40271403G>A	AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"Chromatin-modifying enzymes / K-acetyltransferases"	4201	protein-coding gene	gene with protein product		602301	"GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.933C>T	17.37:g.40271403G>A							p.Y311Y	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN			6	986	-			311					Q8N1A2|Q9UCW1	Silent	SNP	ENST00000225916.5	37	c.933C>T	CCDS11417.1																																																																																				0.582	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1	NM_021078		44	69	0	0	0	0.01441	0	44	69					A	40271403	G	A	40271403	2	1	359	1	0	0	0	0	0	0	0	1	7981	1140	40	1		1	KAT2A	17	40271403	Silent	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	28756314	40271403	40923807	64	7630											
EVPL	2125	broad.mit.edu	37	chr17	74005905	74005905	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	accttgggctccaccgagctGatagcccgctccaggtcttc	10	16	1	1			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr17:74005905G>C	ENST00000301607.3	-	22	3634	c.3381C>G	c.(3379-3381)atC>atG	p.I1127M	EVPL_ENST00000586740.1_Missense_Mutation_p.I1149M	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1127	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCACCGAGCTGATAGCCCGCT	0.642																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(3379-3381)atC>atG		envoplakin							43	44	44					17																	74005905		2203	4300	6503	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74005905G>C	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.3381C>G	17.37:g.74005905G>C	ENSP00000301607:p.Ile1127Met					EVPL_ENST00000586740.1_Missense_Mutation_p.I1149M	p.I1127M	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	3634	-			1127			Central fibrous rod domain.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.3381C>G	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.474426	0.26423	.	.	ENSG00000167880	ENST00000301607	T	0.41400	1.0	5.17	5.17	0.71159	.	0.050671	0.85682	D	0.000000	T	0.59622	0.2207	M	0.76002	2.32	0.42281	D	0.99209	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.972	T	0.63180	-0.6695	10	0.56958	D	0.05	-29.1466	6.7456	0.23460	0.2212:0.0:0.7788:0.0	.	1149;1127	B7ZLH8;Q92817	.;EVPL_HUMAN	M	1127	ENSP00000301607:I1127M	ENSP00000301607:I1127M	I	-	3	3	EVPL	71517500	1.000000	0.71417	0.204000	0.23530	0.036000	0.12997	2.331000	0.43894	2.419000	0.82065	0.491000	0.48974	ATC		0.642	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		18	39	0	0	0	0.00499	0	18	39					C	74005905	G	C	74005905	3	2	359	1	0	0	0	0	1	0	0	0	5292	1280	45	4	2724	4	EVPL	17	74005905	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	33734502	74005905	7189305	65	7631											
ANAPC11	51529	broad.mit.edu	37	chr17	79857212	79857212	+	Intron	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcccatccacaggtgcccatCaacacagcttccccaacgcc	6	20	1	0			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr17:79857212C>T	ENST00000575195.2	+	2	289				ANAPC11_ENST00000574924.2_Intron|ANAPC11_ENST00000578544.1_Intron|ANAPC11_ENST00000392376.3_Intron|ANAPC11_ENST00000571874.2_Intron|ANAPC11_ENST00000357385.3_Silent_p.I68I|NPB_ENST00000333383.7_5'Flank|ANAPC11_ENST00000577425.1_Intron|ANAPC11_ENST00000571024.2_Intron|ANAPC11_ENST00000579978.1_Intron|ANAPC11_ENST00000578550.1_Intron|ANAPC11_ENST00000344877.5_Intron|NPB_ENST00000573081.1_5'Flank|ANAPC11_ENST00000579133.1_Intron|ANAPC11_ENST00000583839.1_Intron|ANAPC11_ENST00000572851.2_Intron|ANAPC11_ENST00000571570.1_Intron|ANAPC11_ENST00000577747.1_Intron|ANAPC11_ENST00000572639.1_Intron			Q9NYG5	APC11_HUMAN	anaphase promoting complex subunit 11						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(1)	2	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			AGGTGCCCATCAACACAGCTT	0.607																																						ENST00000357385.3																			0				kidney(1)|lung(1)	2						c.(202-204)atC>atT		anaphase promoting complex subunit 11							70	62	65					17																	79857212		2203	4299	6502	SO:0001627	intron_variant	51529				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	zinc ion binding	g.chr17:79857212C>T	AF247565	CCDS11789.1, CCDS32769.1, CCDS74180.1	17q25.3	2011-06-15	2008-10-30			ENSG00000141552		"Anaphase promoting complex subunits"	14452	protein-coding gene	gene with protein product		614534	"anaphase promoting complex subunit 11 (yeast APC11 homolog)"			10922056	Standard	NM_001002245		Approved	HSPC214, APC11, Apc11p, MGC882	uc002kby.1	Q9NYG5		ENST00000575195.2:c.110-584C>T	17.37:g.79857212C>T						ANAPC11_ENST00000571874.2_Intron|ANAPC11_ENST00000577425.1_Intron|ANAPC11_ENST00000578544.1_Intron|ANAPC11_ENST00000571024.2_Intron|ANAPC11_ENST00000583839.1_Intron|ANAPC11_ENST00000577747.1_Intron|ANAPC11_ENST00000572851.2_Intron|ANAPC11_ENST00000572639.1_Intron|ANAPC11_ENST00000574924.2_Intron|ANAPC11_ENST00000575195.2_Intron|ANAPC11_ENST00000578550.1_Intron|ANAPC11_ENST00000571570.1_Intron|ANAPC11_ENST00000392376.3_Intron|ANAPC11_ENST00000579978.1_Intron|ANAPC11_ENST00000344877.5_Intron|ANAPC11_ENST00000579133.1_Intron	p.I68I	NM_001002244.1	NP_001002244.1	Q9NYG5	APC11_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		3	340	+	all_neural(118;0.0878)|Ovarian(332;0.12)		0					A8MTT2|B7ZW64|Q502X9|Q9BW64|Q9P0R2	Silent	SNP	ENST00000575195.2	37	c.204C>T	CCDS11789.1																																																																																				0.607	ANAPC11-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440106.2	NM_016476		9	30	0	0	0	0.006214	0	9	30					T	79857212	C	T	79857212	1	4	359	0	1	0	0	0	0	0	0	0	600	816	29	2		2	ANAPC11	17	79857212	Intron	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	5851307	79857212	1337998	66	7632											
PPAN	56342	broad.mit.edu	37	chr19	10221422	10221422	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cacgggtcgggggtagtgatGaagaggcctctgggatccct	17	9	1	3			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr19:10221422G>A	ENST00000253107.7	+	11	1187	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.E361K|P2RY11_ENST00000321826.4_5'Flank|PPAN_ENST00000556468.1_Missense_Mutation_p.E361K|PPAN_ENST00000393793.1_Missense_Mutation_p.E308K|PPAN-P2RY11_ENST00000428358.1_Missense_Mutation_p.E361K|SNORD105B_ENST00000458770.1_RNA	NM_020230.5	NP_064615.3	Q9NQ55	SSF1_HUMAN	peter pan homolog (Drosophila)	361					RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			GGGTAGTGATGAAGAGGCCTC	0.602																																						ENST00000428358.1																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31						c.(1081-1083)Gaa>Aaa									72	79	77					19																	10221422		2203	4300	6503	SO:0001583	missense	0				RNA splicing	nucleolus	protein binding	g.chr19:10221422G>A	BC033202	CCDS12225.1	19p13.2	2008-02-05	2001-11-28		ENSG00000130810	ENSG00000130810			9227	protein-coding gene	gene with protein product		607793	"peter pan (Drosophila) homolog"			10873382	Standard	NM_020230		Approved	SSF1, SSF2, SSF, BXDC3		Q9NQ55	OTTHUMG00000156826	ENST00000253107.7:c.1081G>A	19.37:g.10221422G>A	ENSP00000253107:p.Glu361Lys					PPAN_ENST00000393793.1_Missense_Mutation_p.E308K|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.E361K|PPAN_ENST00000556468.1_Missense_Mutation_p.E361K|PPAN_ENST00000253107.7_Missense_Mutation_p.E361K	p.E361K	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		11	1253	+			361					C9J3F9|Q9BW97|Q9H170	Missense_Mutation	SNP	ENST00000253107.7	37	c.1081G>A	CCDS12225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.68|13.68	2.308677|2.308677	0.40895|0.40895	.|.	.|.	ENSG00000243207;ENSG00000243207;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810|ENSG00000130810	ENST00000428358;ENST00000393796;ENST00000253107;ENST00000556468;ENST00000342696;ENST00000393793|ENST00000444703	T;T;T;T;T|.	0.62941|.	1.45;-0.01;1.47;-0.01;1.48|.	4.78|4.78	3.72|3.72	0.42706|0.42706	.|.	.|.	.|.	.|.	.|.	T|T	0.42449|0.42449	0.1203|0.1203	L|L	0.29908|0.29908	0.895|0.895	0.30566|0.30566	N|N	0.764024|0.764024	B;B;B|.	0.29716|.	0.255;0.255;0.255|.	B;B;B|.	0.26614|.	0.071;0.037;0.053|.	T|T	0.41945|0.41945	-0.9480|-0.9480	9|5	0.10636|.	T|.	0.68|.	-7.0665|-7.0665	13.6734|13.6734	0.62438|0.62438	0.0:0.1567:0.8433:0.0|0.0:0.1567:0.8433:0.0	.|.	361;361;361|.	C9J3F9;C9JW41;Q9NQ55|.	.;.;SSF1_HUMAN|.	K|I	361;361;361;361;361;308|120	ENSP00000411918:E361K;ENSP00000377385:E361K;ENSP00000253107:E361K;ENSP00000450710:E361K;ENSP00000377382:E308K|.	ENSP00000253107:E361K|.	E|M	+|+	1|3	0|0	PPAN;PPAN-P2RY11|PPAN	10082422|10082422	0.998000|0.998000	0.40836|0.40836	0.008000|0.008000	0.14137|0.14137	0.001000|0.001000	0.01503|0.01503	5.560000|5.560000	0.67332|0.67332	0.966000|0.966000	0.38159|0.38159	0.561000|0.561000	0.74099|0.74099	GAA|ATG		0.602	PPAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316658.1	NM_020230		7	91	0	0	0	0.00308	0	7	91					A	10221422	G	A	10221422	3	1	359	1	0	0	0	0	1	0	0	0	12288	1291	45	2	1123	2	PPAN	19	10221422	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08		10221422	48907561	67	7633											
ZNF528	84436	broad.mit.edu	37	chr19	52919958	52919958	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	taaggtcttcagtcacaattCtgaccttgcacagcatcaga	7	11	5	2			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr19:52919958C>G	ENST00000360465.3	+	7	2279	c.1853C>G	c.(1852-1854)tCt>tGt	p.S618C	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	618					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		AGTCACAATTCTGACCTTGCA	0.418																																						ENST00000360465.3																			0				breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(1852-1854)tCt>tGt		zinc finger protein 528							62	60	60					19																	52919958		2203	4300	6503	SO:0001583	missense	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52919958C>G	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"Zinc fingers, C2H2-type", "-"	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.1853C>G	19.37:g.52919958C>G	ENSP00000353652:p.Ser618Cys					ZNF528_ENST00000391788.2_3'UTR	p.S618C	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	7	2279	+			618					B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	c.1853C>G	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.459332	0.26248	.	.	ENSG00000167555	ENST00000360465	T	0.33654	1.4	1.58	1.58	0.23477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.59459	0.2195	M	0.83852	2.665	0.09310	N	1	D	0.71674	0.998	D	0.77557	0.99	T	0.46624	-0.9178	9	0.72032	D	0.01	.	10.0797	0.42381	0.0:1.0:0.0:0.0	.	618	Q3MIS6	ZN528_HUMAN	C	618	ENSP00000353652:S618C	ENSP00000353652:S618C	S	+	2	0	ZNF528	57611770	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	-0.188000	0.09642	0.842000	0.35045	0.491000	0.48974	TCT		0.418	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		8	47	0	0	0	0.006214	0	8	47					G	52919958	C	G	52919958	3	3	359	1	0	0	0	0	1	0	0	0	17966	913	32	4	1867	4	ZNF528	19	52919958	Missense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	42698536	52919958	6209025	68	7634											
NFATC2	4773	broad.mit.edu	37	chr20	50071158	50071158	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaggatcatttgctggccGccatagaccaggcagctgtc	13	11	1	2	rs146686251	byFrequency	TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr20:50071158G>A	ENST00000396009.3	-	6	1995	c.1776C>T	c.(1774-1776)ggC>ggT	p.G592G	NFATC2_ENST00000414705.1_Silent_p.G572G|NFATC2_ENST00000371564.3_Silent_p.G592G|MIR3194_ENST00000582236.1_RNA|NFATC2_ENST00000609943.1_Silent_p.G572G|NFATC2_ENST00000610033.1_Silent_p.G373G|NFATC2_ENST00000609507.1_Silent_p.G373G	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	592					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|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)	p.G592G(1)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TTTGCTGGCCGCCATAGACCA	0.502													G|||	3	0.000599042	8e-04	0.0014	5008	,	,		19640	0		0.001	False		,,,				2504	0					ENST00000371564.3																		EWSR1/NFATC2(9)	1	Substitution - coding silent(1)	p.G592G(1)	prostate(1)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(1774-1776)ggC>ggT		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							168	169	169					20																	50071158		2203	4300	6503	SO:0001819	synonymous_variant	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50071158G>A	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"Nuclear factor of activated T-cells"	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.1776C>T	20.37:g.50071158G>A						NFATC2_ENST00000414705.1_Silent_p.G572G|NFATC2_ENST00000396009.3_Silent_p.G592G	p.G592G	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			6	1995	-	Hepatocellular(150;0.248)		592					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Silent	SNP	ENST00000396009.3	37	c.1776C>T	CCDS13437.1																																																																																				0.502	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		5	171	0	0	0	0.001168	0	5	171					A	50071158	G	A	50071158	2	1	359	1	0	0	0	0	0	0	0	1	10362	1074	38	1		1	NFATC2	20	50071158	Silent	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08		50071158	12954362	69	7635											
C20orf197	284756	broad.mit.edu	37	chr20	58645884	58645884	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtattaaaggctctgcaaaGttctgcaccaaataaaccct	7	10	2	0			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr20:58645884G>T	ENST00000313426.1	+	4	608	c.302G>T	c.(301-303)aGt>aTt	p.S101I		NM_173644.1	NP_775915.1	Q8N268	CT197_HUMAN	chromosome 20 open reading frame 197	101										large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5			BRCA - Breast invasive adenocarcinoma(7;2.33e-09)			gctctgcaaagttctgcacca	0.478																																						ENST00000313426.1																			0				large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(301-303)aGt>aTt		chromosome 20 open reading frame 197							63	62	62					20																	58645884		2203	4300	6503	SO:0001583	missense	284756							g.chr20:58645884G>T	AK091179	CCDS13487.1	20q13.33	2006-07-07			ENSG00000176659	ENSG00000176659			26601	protein-coding gene	gene with protein product						12975309	Standard	NM_173644		Approved	FLJ33860	uc002ybj.1	Q8N268	OTTHUMG00000032880	ENST00000313426.1:c.302G>T	20.37:g.58645884G>T	ENSP00000316457:p.Ser101Ile						p.S101I	NM_173644.1	NP_775915.1	Q8N268	CT197_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.33e-09)		4	608	+			101					Q08EQ0	Missense_Mutation	SNP	ENST00000313426.1	37	c.302G>T	CCDS13487.1	.	.	.	.	.	.	.	.	.	.	G	8.640	0.895800	0.17686	.	.	ENSG00000176659	ENST00000313426	.	.	.	2.12	-0.0676	0.13759	.	.	.	.	.	T	0.19248	0.0462	N	0.08118	0	0.09310	N	1	P	0.51537	0.946	P	0.50934	0.654	T	0.10543	-1.0625	8	0.87932	D	0	.	3.1357	0.06438	0.1895:0.3089:0.5015:0.0	.	101	Q8N268	CT197_HUMAN	I	101	.	ENSP00000316457:S101I	S	+	2	0	C20orf197	58079279	0.000000	0.05858	0.000000	0.03702	0.146000	0.21551	-0.153000	0.10144	0.014000	0.14944	0.491000	0.48974	AGT		0.478	C20orf197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079944.1	NM_173644		3	11	1	0	6.4e-05	0.004672	7.43434e-05	3	11					T	58645884	G	T	58645884	3	4	359	1	0	0	0	0	1	0	0	0	2102	1029	36	4	308	4	C20orf197	20	58645884	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	8574726	58645884	4379636	70	7636											
GRIK1	2897	broad.mit.edu	37	chr21	30961208	30961208	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccactcccctttgtcattcTgggccccatatttgccatcg	6	16	2	0			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr21:30961208T>G	ENST00000399907.1	-	11	1931	c.1520A>C	c.(1519-1521)cAg>cCg	p.Q507P	GRIK1_ENST00000309434.7_Missense_Mutation_p.Q509P|GRIK1_ENST00000399909.1_Missense_Mutation_p.Q492P|GRIK1_ENST00000389125.3_Missense_Mutation_p.Q492P|GRIK1_ENST00000535441.1_Missense_Mutation_p.Q509P|GRIK1_ENST00000399913.1_Missense_Mutation_p.Q507P|GRIK1_ENST00000327783.4_Missense_Mutation_p.Q507P|GRIK1_ENST00000399914.1_Missense_Mutation_p.Q492P|GRIK1_ENST00000389124.2_Missense_Mutation_p.Q507P	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	507					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|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 postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|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)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	TTTGTCATTCTGGGCCCCATA	0.368																																						ENST00000399914.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45						c.(1474-1476)cAg>cCg		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						161	155	157					21																	30961208		2203	4300	6503	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:30961208T>G		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.1520A>C	21.37:g.30961208T>G	ENSP00000382791:p.Gln507Pro					GRIK1_ENST00000389124.2_Missense_Mutation_p.Q507P|GRIK1_ENST00000309434.7_Missense_Mutation_p.Q509P|GRIK1_ENST00000399909.1_Missense_Mutation_p.Q492P|GRIK1_ENST00000399907.1_Missense_Mutation_p.Q507P|GRIK1_ENST00000389125.3_Missense_Mutation_p.Q492P|GRIK1_ENST00000399913.1_Missense_Mutation_p.Q507P|GRIK1_ENST00000535441.1_Missense_Mutation_p.Q509P|GRIK1_ENST00000327783.4_Missense_Mutation_p.Q507P	p.Q492P			P39086	GRIK1_HUMAN			10	1996	-			507					Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.1475A>C	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	T	13.28	2.191530	0.38707	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	T;T;T;T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	4.95	4.95	0.65309	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.049306	0.85682	D	0.000000	T	0.67107	0.2858	N	0.26162	0.8	0.80722	D	1	B;B;B;B	0.06786	0.001;0.0;0.001;0.001	B;B;B;B	0.17098	0.017;0.003;0.017;0.01	T	0.62469	-0.6848	10	0.32370	T	0.25	.	14.7296	0.69372	0.0:0.0:0.0:1.0	.	507;492;507;492	E9PD61;E7EPZ0;P39086;P39086-2	.;.;GRIK1_HUMAN;.	P	507;492;507;492;509;507;507;492;509	ENSP00000327687:Q507P;ENSP00000373777:Q492P;ENSP00000382797:Q507P;ENSP00000382798:Q492P;ENSP00000446326:Q509P;ENSP00000373776:Q507P;ENSP00000382791:Q507P;ENSP00000382793:Q492P;ENSP00000311646:Q509P	ENSP00000311646:Q509P	Q	-	2	0	GRIK1	29883079	1.000000	0.71417	0.997000	0.53966	0.901000	0.52897	6.080000	0.71299	2.191000	0.70037	0.528000	0.53228	CAG		0.368	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			15	78	0	0	0	0.006122	0	15	78					G	30961208	T	G	30961208	3	3	359	1	0	0	0	0	1	0	0	0	6773	1580	55	5	1424	5	GRIK1	21	30961208	Missense_Mutation	SNP	T	TCGA-ET-A2MY-01A-11D-A18F-08		30961208	17168687	71	7637											
KRTAP10-5	386680	broad.mit.edu	37	chr21	45999968	45999968	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gctggcagggggaggaggtgCagcaagtcggctggcagcta	20	8	0	0			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr21:45999968C>G	ENST00000400372.1	-	1	513	c.488G>C	c.(487-489)tGc>tCc	p.C163S	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	163	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GGAGGAGGTGCAGCAAGTCGG	0.602																																						ENST00000400372.1																			0				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(487-489)tGc>tCc		keratin associated protein 10-5							153	157	156					21																	45999968		2203	4300	6503	SO:0001583	missense	386680					keratin filament		g.chr21:45999968C>G	AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"Keratin associated proteins"	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.488G>C	21.37:g.45999968C>G	ENSP00000383223:p.Cys163Ser					TSPEAR_ENST00000323084.4_Intron	p.C163S	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN			1	513	-			163			22 X 5 AA repeats of C-C-X(3).		Q0VAR7|Q0VAR8|Q70LJ3	Missense_Mutation	SNP	ENST00000400372.1	37	c.488G>C	CCDS42958.1	.	.	.	.	.	.	.	.	.	.	c	8.169	0.791356	0.16258	.	.	ENSG00000241123	ENST00000400372	T	0.05025	3.51	3.17	3.17	0.36434	.	.	.	.	.	T	0.23451	0.0567	M	0.87269	2.87	0.27865	N	0.940241	D	0.63046	0.992	D	0.63957	0.92	T	0.02698	-1.1122	9	0.49607	T	0.09	.	8.4337	0.32773	0.0:0.7577:0.2423:0.0	.	163	P60370	KR105_HUMAN	S	163	ENSP00000383223:C163S	ENSP00000383223:C163S	C	-	2	0	KRTAP10-5	44824396	0.954000	0.32549	0.655000	0.29622	0.417000	0.31264	2.058000	0.41374	1.761000	0.52028	0.455000	0.32223	TGC		0.602	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1			26	163	0	0	0	0.005443	0	26	163					G	45999968	C	G	45999968	3	3	359	1	0	0	0	0	1	0	0	0	8512	710	25	4	331	4	KRTAP10-5	21	45999968	Missense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	15038760	45999968	2129927	72	7638											
LZTR1	8216	broad.mit.edu	37	chr22	21340177	21340177	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gttcgatgtgaaagactgctCctggtgcaggtgggtggccc	16	9	0	2			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr22:21340177C>G	ENST00000215739.8	+	3	670	c.311C>G	c.(310-312)tCc>tGc	p.S104C	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Intron	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	104					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AAAGACTGCTCCTGGTGCAGG	0.582																																						ENST00000215739.8																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42						c.(310-312)tCc>tGc		leucine-zipper-like transcription regulator 1							91	70	77					22																	21340177		2203	4300	6503	SO:0001583	missense	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21340177C>G	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"BTB/POZ domain containing"	6742	protein-coding gene	gene with protein product		600574	"leucine-zipper-like transcriptional regulator 1"			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.311C>G	22.37:g.21340177C>G	ENSP00000215739:p.Ser104Cys					LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Intron	p.S104C	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		3	670	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	104					Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	c.311C>G	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739729	0.89573	.	.	ENSG00000099949	ENST00000539817;ENST00000215739	T	0.47528	0.84	4.52	4.52	0.55395	.	0.061156	0.64402	D	0.000002	T	0.65154	0.2664	M	0.64170	1.965	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.995	T	0.65809	-0.6078	10	0.49607	T	0.09	-43.1161	15.1436	0.72630	0.0:1.0:0.0:0.0	.	104;63	Q8N653;F5GXU8	LZTR1_HUMAN;.	C	63;104	ENSP00000215739:S104C	ENSP00000215739:S104C	S	+	2	0	LZTR1	19670177	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.457000	0.80775	2.516000	0.84829	0.643000	0.83706	TCC		0.582	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		6	32	0	0	0	0.00308	0	6	32					G	21340177	C	G	21340177	3	3	359	1	0	0	0	0	1	0	0	0	9137	855	30	4	321	4	LZTR1	22	21340177	Missense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08		21340177	29964389	73	7639											
PLCXD1	55344	broad.mit.edu	37	chrX	209756	209756	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaacaggtcatcgtctccTatgaagacgagagctccttg	10	12	2	3			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chrX:209756T>C	ENST00000381657.2	+	6	1118	c.604T>C	c.(604-606)Tat>Cat	p.Y202H	PLCXD1_ENST00000399012.1_Missense_Mutation_p.Y202H|PLCXD1_ENST00000381663.3_Missense_Mutation_p.Y202H	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	202	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid metabolic process (GO:0006629)		phosphoric diester hydrolase activity (GO:0008081)			endometrium(3)|large_intestine(1)|lung(7)	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)				CATCGTCTCCTATGAAGACGA	0.632																																						ENST00000381657.2																			0				endometrium(3)|large_intestine(1)|lung(7)	11						c.(604-606)Tat>Cat		phosphatidylinositol-specific phospholipase C, X domain containing 1							75	72	73					X																	209756		2203	4296	6499	SO:0001583	missense	55344				intracellular signal transduction|lipid metabolic process		phospholipase C activity	g.chrX:209756T>C	AK002185	CCDS14103.1	Xp22.33 and Yp11.32	2010-07-28			ENSG00000182378	ENSG00000182378		"Pseudoautosomal regions / PAR1"	23148	protein-coding gene	gene with protein product							Standard	NM_018390		Approved	FLJ11323	uc004cpc.3	Q9NUJ7	OTTHUMG00000022693	ENST00000381657.2:c.604T>C	X.37:g.209756T>C	ENSP00000371073:p.Tyr202His					PLCXD1_ENST00000399012.1_Missense_Mutation_p.Y202H|PLCXD1_ENST00000381663.3_Missense_Mutation_p.Y202H	p.Y202H	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN			6	1118	+		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)	202			PI-PLC X-box.		A2BH51|A2BH52	Missense_Mutation	SNP	ENST00000381657.2	37	c.604T>C	CCDS14103.1	.	.	.	.	.	.	.	.	.	.	.	10.61	1.398934	0.25291	.	.	ENSG00000182378	ENST00000399012;ENST00000381657;ENST00000381663	T;T;T	0.28895	1.59;1.59;1.59	1.26	1.26	0.21427	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.000000	0.85682	D	0.000000	T	0.44603	0.1301	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.12319	-1.0552	9	0.42905	T	0.14	-31.0036	6.2892	0.21051	0.0:0.0:0.0:1.0	.	202	Q9NUJ7	PLCX1_HUMAN	H	202	ENSP00000381976:Y202H;ENSP00000371073:Y202H;ENSP00000371079:Y202H	ENSP00000371073:Y202H	Y	+	1	0	PLCXD1	149756	1.000000	0.71417	0.053000	0.19242	0.082000	0.17680	4.741000	0.62095	0.552000	0.29026	0.320000	0.21374	TAT		0.632	PLCXD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058879.2	NM_018390		3	49	0	0	0	0.004672	0	3	49					C	209756	T	C	209756	3	2	359	1	0	0	0	0	1	0	0	0	12041	1522	53	3	622	3	PLCXD1	23	209756	Missense_Mutation	SNP	T	TCGA-ET-A2MY-01A-11D-A18F-08		209756	155060804	74	7640											
DOCK11	139818	broad.mit.edu	37	chrX	117819739	117819739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtacatcaagtgaccgagGttatggttccccaagatacg	11	9	1	2	rs376064945		TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chrX:117819739G>A	ENST00000276202.7	+	53	6254	c.6191G>A	c.(6190-6192)gGt>gAt	p.G2064D	DOCK11_ENST00000276204.6_Missense_Mutation_p.G2068D	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	2064					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AGTGACCGAGGTTATGGTTCC	0.403																																						ENST00000276204.6																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(6202-6204)gGt>gAt		dedicator of cytokinesis 11		G	ASP/GLY	1,3834		0,0,1,1632,570	210	176	187		6191	6.2	1.0	X		187	0,6728		0,0,0,2428,1872	no	missense	DOCK11	NM_144658.3	94	0,0,1,4060,2442	AA,AG,A,GG,G		0.0,0.0261,0.0095	benign	2064/2074	117819739	1,10562	2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117819739G>A	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.6191G>A	X.37:g.117819739G>A	ENSP00000276202:p.Gly2064Asp					DOCK11_ENST00000276202.7_Missense_Mutation_p.G2064D	p.G2068D			Q5JSL3	DOC11_HUMAN			53	6277	+			2064					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.6203G>A	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617684	0.46736	2.61E-4	0.0	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.17370	2.28;2.28	6.17	6.17	0.99709	.	0.319538	0.31495	N	0.007553	T	0.12860	0.0312	L	0.36672	1.1	0.32589	N	0.527445	B;B	0.31125	0.309;0.309	B;B	0.22386	0.026;0.039	T	0.14896	-1.0456	10	0.15499	T	0.54	-21.7584	13.5363	0.61648	0.0:0.0:0.8448:0.1552	.	2068;2064	A6NIW2;Q5JSL3	.;DOC11_HUMAN	D	2068;2064	ENSP00000276204:G2068D;ENSP00000276202:G2064D	ENSP00000276202:G2064D	G	+	2	0	DOCK11	117703767	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	4.726000	0.61986	2.618000	0.88619	0.600000	0.82982	GGT		0.403	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		71	89	0	0	0	0.01441	0	71	89					A	117819739	G	A	117819739	3	1	359	1	0	0	0	0	1	0	0	0	4686	1261	44	2	6401	2	DOCK11	23	117819739	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	117609983	117819739	37450821	75	7641											
SFRS11	9295	broad.mit.edu	37	chr1	70716352	70716352	+	Frame_Shift_Del	DEL	A	A	-													cagtgagaaagagaaaaaagAagagaagaaaccaatagaaa							TCGA-ET-A2MZ-01A-12D-A19J-08	TCGA-ET-A2MZ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654b03aa-d212-4e95-ac1b-a0208691cb0e	85072b72-45e1-451a-9caf-7fb88b4f3cd7	g.chr1:70716352delA	ENST00000370950.3	+	13	1401	c.1319delA	c.(1318-1320)gaafs	p.E441fs	SRSF11_ENST00000370951.1_Frame_Shift_Del_p.E440fs|SRSF11_ENST00000484162.1_3'UTR|SRSF11_ENST00000405432.1_Frame_Shift_Del_p.E441fs|SRSF11_ENST00000370949.1_Frame_Shift_Del_p.E381fs			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	441					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|ovary(2)|skin(1)	6						GAGAAAAAAGAAGAGAAGAAA	0.393																																						ENST00000370950.3																			0				large_intestine(3)|ovary(2)|skin(1)	6						c.(1318-1320)gafs		serine/arginine-rich splicing factor 11							56	56	56					1																	70716352		2203	4299	6502	SO:0001589	frameshift_variant	9295				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:70716352delA	M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10782	protein-coding gene	gene with protein product	"SR splicing factor 11"	602010	"splicing factor, arginine/serine-rich 11"	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.1319delA	1.37:g.70716352delA	ENSP00000359988:p.Glu441fs					SRSF11_ENST00000370951.1_Frame_Shift_Del_p.E440fs|SRSF11_ENST00000370949.1_Frame_Shift_Del_p.E381fs|SRSF11_ENST00000405432.1_Frame_Shift_Del_p.E441fs|SRSF11_ENST00000484162.1_3'UTR	p.E441fs			Q05519	SRS11_HUMAN			13	1401	+			441					Q5T758|Q8IWE6	Frame_Shift_Del	DEL	ENST00000370950.3	37	c.1319delA	CCDS647.1																																																																																				0.393	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025889.1	NM_004768		7	47						7	47	---	---	---	---	-	70716352	A	-	70716352	7	5	360	1	0	1	0	1	0	0	0	0	14166	246	9	0	1365	0	SFRS11	1	70716352	Frame_Shift_Del	DEL	A	TCGA-ET-A2MZ-01A-12D-A19J-08		70716352	178534269	1	7642											
HAAO	23498	broad.mit.edu	37	chr2	43010952	43010952	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gccgaatgaccacatcccggTgtttcccttgctccaggact	9	15	0	1			TCGA-ET-A2MZ-01A-12D-A19J-08	TCGA-ET-A2MZ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654b03aa-d212-4e95-ac1b-a0208691cb0e	85072b72-45e1-451a-9caf-7fb88b4f3cd7	g.chr2:43010952T>A	ENST00000294973.6	-	3	270	c.215A>T	c.(214-216)cAc>cTc	p.H72L		NM_012205.2	NP_036337.2			3-hydroxyanthranilate 3,4-dioxygenase											breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						CACATCCCGGTGTTTCCCTTG	0.602																																						ENST00000294973.6																			0				breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						c.(214-216)cAc>cTc		3-hydroxyanthranilate 3,4-dioxygenase							71	56	61					2																	43010952		2203	4300	6503	SO:0001583	missense	23498				neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process	cytosol|soluble fraction	3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding	g.chr2:43010952T>A	Z29481	CCDS33187.1	2p	2008-02-05			ENSG00000162882	ENSG00000162882	1.13.11.6		4796	protein-coding gene	gene with protein product		604521				7514594	Standard	NM_012205		Approved		uc002rst.4	P46952	OTTHUMG00000152348	ENST00000294973.6:c.215A>T	2.37:g.43010952T>A	ENSP00000294973:p.His72Leu						p.H72L	NM_012205.2	NP_036337.2	P46952	3HAO_HUMAN			3	270	-			72			Domain A (catalytic) (By similarity).			Missense_Mutation	SNP	ENST00000294973.6	37	c.215A>T	CCDS33187.1	.	.	.	.	.	.	.	.	.	.	T	11.44	1.638966	0.29157	.	.	ENSG00000162882	ENST00000294973;ENST00000431905	T;T	0.27402	1.67;1.67	4.68	3.5	0.40072	Cupin, RmlC-type (1);	0.061957	0.64402	D	0.000005	T	0.23370	0.0565	M	0.66939	2.045	0.54753	D	0.999986	P	0.39443	0.674	B	0.33568	0.166	T	0.03335	-1.1047	10	0.11485	T	0.65	.	7.0642	0.25143	0.0:0.1044:0.0:0.8956	.	72	P46952	3HAO_HUMAN	L	72;38	ENSP00000294973:H72L;ENSP00000412601:H38L	ENSP00000294973:H72L	H	-	2	0	HAAO	42864456	1.000000	0.71417	0.992000	0.48379	0.883000	0.51084	3.431000	0.52814	1.985000	0.57927	0.374000	0.22700	CAC		0.602	HAAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325948.2			7	12	0	0	0	0.307466	0	7	12					A	43010952	T	A	43010952	3	1	360	1	0	0	0	0	1	0	0	0	6937	1696	59	5	677	5	HAAO	2	43010952	Missense_Mutation	SNP	T	TCGA-ET-A2MZ-01A-12D-A19J-08		43010952	200188421	2	7643											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A2MZ-01A-12D-A19J-08	TCGA-ET-A2MZ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654b03aa-d212-4e95-ac1b-a0208691cb0e	85072b72-45e1-451a-9caf-7fb88b4f3cd7	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		38	60	0	0	0	0.796494	0	38	60					T	140453136	A	T	140453136	3	4	360	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A2MZ-01A-12D-A19J-08		140453136	18685527	3	7644											
GPR124	25960	broad.mit.edu	37	chr8	37693173	37693173	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagactgcaccctgcaactGctcgtcttccgaaatggccg	9	16	1	1			TCGA-ET-A2MZ-01A-12D-A19J-08	TCGA-ET-A2MZ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654b03aa-d212-4e95-ac1b-a0208691cb0e	85072b72-45e1-451a-9caf-7fb88b4f3cd7	g.chr8:37693173G>A	ENST00000412232.2	+	13	1948	c.1935G>A	c.(1933-1935)ctG>ctA	p.L645L	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	645					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CCCTGCAACTGCTCGTCTTCC	0.682																																						ENST00000412232.2																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1933-1935)ctG>ctA		G protein-coupled receptor 124							77	85	82					8																	37693173		2203	4300	6503	SO:0001819	synonymous_variant	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37693173G>A	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17849	protein-coding gene	gene with protein product	"tumor endothelial marker 5"	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.1935G>A	8.37:g.37693173G>A						GPR124_ENST00000315215.7_Intron	p.L645L	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		13	1948	+			645					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	ENST00000412232.2	37	c.1935G>A	CCDS6097.2																																																																																				0.682	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			30	81	0	0	0	0.760397	0	30	81					A	37693173	G	A	37693173	2	1	360	1	0	0	0	0	0	0	0	1	6638	1306	46	2		2	GPR124	8	37693173	Silent	SNP	G	TCGA-ET-A2MZ-01A-12D-A19J-08		37693173	108670849	4	7645											
BTBD12	84464	broad.mit.edu	37	chr16	3642722	3642722	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtgggccagggagctcagctCagagctaaggccaggaggaa	17	9	2	1	rs150712805	byFrequency	TCGA-ET-A2MZ-01A-12D-A19J-08	TCGA-ET-A2MZ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654b03aa-d212-4e95-ac1b-a0208691cb0e	85072b72-45e1-451a-9caf-7fb88b4f3cd7	g.chr16:3642722C>G	ENST00000294008.3	-	11	2945	c.2305G>C	c.(2305-2307)Gag>Cag	p.E769Q		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	769	Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GAGCTCAGCTCAGAGCTAAGG	0.597								Direct reversal of damage					C|||	2	0.000399361	0	0	5008	,	,		17939	0		0.002	False		,,,				2504	0					ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(2305-2307)Gag>Cag	Direct reversal of damage	SLX4 structure-specific endonuclease subunit		C	GLN/GLU	2,4392	4.2+/-10.8	0,2,2195	52	48	49		2305	4.6	0.1	16	dbSNP_134	49	17,8583	12.6+/-44.7	0,17,4283	yes	missense	SLX4	NM_032444.2	29	0,19,6478	GG,GC,CC		0.1977,0.0455,0.1462	possibly-damaging	769/1835	3642722	19,12975	2197	4300	6497	SO:0001583	missense	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3642722C>G	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.2305G>C	16.37:g.3642722C>G	ENSP00000294008:p.Glu769Gln						p.E769Q	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			11	2945	-			769			Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.2305G>C	CCDS10506.2	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	11.33	1.606733	0.28623	4.55E-4	0.001977	ENSG00000188827	ENST00000294008	T	0.24350	1.86	5.61	4.64	0.57946	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.660452	0.14884	N	0.292772	T	0.16854	0.0405	N	0.24115	0.695	0.09310	N	1	B	0.22146	0.065	B	0.25405	0.06	T	0.22103	-1.0226	10	0.26408	T	0.33	.	7.7704	0.29004	0.0:0.6444:0.2657:0.0899	.	769	Q8IY92	SLX4_HUMAN	Q	769	ENSP00000294008:E769Q	ENSP00000294008:E769Q	E	-	1	0	SLX4	3582723	0.001000	0.12720	0.056000	0.19401	0.416000	0.31233	0.965000	0.29319	1.324000	0.45282	0.655000	0.94253	GAG		0.597	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		3	23	0	0	0	0.115264	0	3	23					G	3642722	C	G	3642722	3	3	360	1	0	0	0	0	1	0	0	0	1540	835	29	4	3219	4	BTBD12	16	3642722	Missense_Mutation	SNP	C	TCGA-ET-A2MZ-01A-12D-A19J-08		3642722	86712031	5	7646											
ZNF254	9534	broad.mit.edu	37	chr19	24288767	24288767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgacatttagggatgtggCcatagaattctctctggagg	13	6	2	2			TCGA-ET-A2MZ-01A-12D-A19J-08	TCGA-ET-A2MZ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654b03aa-d212-4e95-ac1b-a0208691cb0e	85072b72-45e1-451a-9caf-7fb88b4f3cd7	g.chr19:24288767C>T	ENST00000357002.4	+	2	171	c.56C>T	c.(55-57)gCc>gTc	p.A19V	ZNF254_ENST00000339642.6_Missense_Mutation_p.A19V|ZNF254_ENST00000342944.6_Intron	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	19	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AGGGATGTGGCCATAGAATTC	0.408																																						ENST00000357002.4																			0											c.(55-57)gCc>gTc		zinc finger protein 254							106	117	113					19																	24288767		2203	4300	6503	SO:0001583	missense	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24288767C>T	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"Zinc fingers, C2H2-type", "-"	13047	protein-coding gene	gene with protein product		604768	"zinc finger protein 539"	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.56C>T	19.37:g.24288767C>T	ENSP00000349494:p.Ala19Val					ZNF254_ENST00000342944.6_Intron|ZNF254_ENST00000339642.6_Missense_Mutation_p.A19V	p.A19V	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN			2	171	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	19			KRAB.		A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	c.56C>T	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202850	0.38905	.	.	ENSG00000213096	ENST00000357002;ENST00000392281;ENST00000339642	T;T	0.03301	3.98;3.98	0.225	0.225	0.15325	Krueppel-associated box (4);	.	.	.	.	T	0.10981	0.0268	M	0.78049	2.395	0.45250	D	0.998256	P	0.41214	0.742	P	0.51453	0.67	T	0.04840	-1.0923	8	0.59425	D	0.04	.	.	.	.	.	19	O75437	ZN254_HUMAN	V	19	ENSP00000349494:A19V;ENSP00000341573:A19V	ENSP00000341573:A19V	A	+	2	0	ZNF254	24080607	0.916000	0.31088	0.723000	0.30687	0.729000	0.41735	1.678000	0.37586	0.300000	0.22699	0.305000	0.20034	GCC		0.408	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		64	121	0	0	0	0.870114	0	64	121					T	24288767	C	T	24288767	3	4	360	1	0	0	0	0	1	0	0	0	17795	739	26	2	62	2	ZNF254	19	24288767	Missense_Mutation	SNP	C	TCGA-ET-A2MZ-01A-12D-A19J-08		24288767	34840216	6	7647											
ATRX	546	broad.mit.edu	37	chrX	76856021	76856021	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcttccaccttcactaTtattgcccacacctgatcaa	2	16	3	1	rs45439799	byFrequency	TCGA-ET-A2MZ-01A-12D-A19J-08	TCGA-ET-A2MZ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654b03aa-d212-4e95-ac1b-a0208691cb0e	85072b72-45e1-451a-9caf-7fb88b4f3cd7	g.chrX:76856021T>C	ENST00000373344.5	-	23	5793	c.5579A>G	c.(5578-5580)aAt>aGt	p.N1860S	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.N1822S	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1860			N -> S (rare polymorphism; dbSNP:rs45439799). {ECO:0000269|PubMed:8968741}.		ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ACCTTCACTATTATTGCCCAC	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T|||	11	0.00291391	0	0.0014	3775	,	,		11702	0		0.008	False		,,,				2504	0.002					ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145	GRCh37	CM950125	ATRX	M	rs45439799	c.(5578-5580)aAt>aGt		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)	T	SER/ASN,SER/ASN	2,3833		0,2,0,1630,571	179	156	164	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	5579,5465	3.4	1.0	X	dbSNP_127	164	65,6658		0,51,14,2376,1855	yes	missense,missense	ATRX	NM_000489.3,NM_138270.2	46,46	0,53,14,4006,2426	CC,CT,C,TT,T		0.9668,0.0522,0.6346	benign,benign	1860/2493,1822/2455	76856021	67,10491	2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76856021T>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5579A>G	X.37:g.76856021T>C	ENSP00000362441:p.Asn1860Ser					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.N1822S	p.N1860S	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			23	5793	-			1860		N -> S (rare polymorphism; dbSNP:rs45439799).			D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.5579A>G	CCDS14434.1	6	0.003616636528028933	0	0.0	1	0.0027624309392265192	0	0.0	5	0.006596306068601583	T	5.672	0.308668	0.10733	5.22E-4	0.009668	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.92595	-3.07;-3.07	5.2	3.41	0.39046	SNF2-related (1);	0.422825	0.24748	N	0.035929	T	0.71945	0.3400	N	0.05078	-0.115	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.65496	-0.6154	10	0.02654	T	1	-0.5634	8.8569	0.35234	0.0:0.7457:0.0:0.2543	rs45439799;rs61752452	1822;1860	P46100-4;P46100	.;ATRX_HUMAN	S	1860;1822	ENSP00000362441:N1860S;ENSP00000378967:N1822S	ENSP00000362441:N1860S	N	-	2	0	ATRX	76742677	0.975000	0.34042	0.982000	0.44146	0.547000	0.35210	0.994000	0.29693	0.389000	0.25086	-0.499000	0.04595	AAT		0.363	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		6	115	0	0	0	0.248553	0	6	115					C	76856021	T	C	76856021	3	2	360	1	0	0	0	0	1	0	0	0	1208	1493	52	3	1951	3	ATRX	23	76856021	Missense_Mutation	SNP	T	TCGA-ET-A2MZ-01A-12D-A19J-08		76856021	78414539	7	7648											
CACHD1	57685	broad.mit.edu	37	chr1	65119491	65119491	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggccatatttattgtcagagCccccacttcatactgacatc	6	13	2	2			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr1:65119491C>G	ENST00000371073.2	+	11	1591	c.1591C>G	c.(1591-1593)Ccc>Gcc	p.P531A	CACHD1_ENST00000290039.5_Missense_Mutation_p.P480A|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	531	Cache 1.				calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ATTGTCAGAGCCCCCACTTCA	0.353																																						ENST00000371073.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(1591-1593)Ccc>Gcc		cache domain containing 1							185	179	181					1																	65119491		2203	4300	6503	SO:0001583	missense	57685				calcium ion transport	integral to membrane		g.chr1:65119491C>G	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"von Willebrand factor type A and cache domain containing 1"	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.1591C>G	1.37:g.65119491C>G	ENSP00000360113:p.Pro531Ala					CACHD1_ENST00000290039.5_Missense_Mutation_p.P480A|CACHD1_ENST00000495994.1_3'UTR	p.P531A			Q5VU97	CAHD1_HUMAN			11	1591	+			531			Cache 1.		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37	c.1591C>G		.	.	.	.	.	.	.	.	.	.	C	9.711	1.157144	0.21454	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.21734	1.99;2.0	5.45	4.54	0.55810	.	0.048889	0.85682	D	0.000000	T	0.04363	0.0120	N	0.08118	0	0.58432	D	0.999999	B	0.06786	0.001	B	0.08055	0.003	T	0.22382	-1.0218	10	0.12103	T	0.63	-25.0719	16.5409	0.84384	0.0:0.8695:0.1305:0.0	.	531	Q5VU97	CAHD1_HUMAN	A	531;480	ENSP00000360113:P531A;ENSP00000290039:P480A	ENSP00000290039:P480A	P	+	1	0	CACHD1	64892079	1.000000	0.71417	0.997000	0.53966	0.717000	0.41224	4.365000	0.59486	1.534000	0.49203	-0.156000	0.13503	CCC		0.353	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		40	101	0	0	0	0.002522	0	40	101					G	65119491	C	G	65119491	3	3	361	1	0	0	0	0	1	0	0	0	2537	739	26	4	1480	4	CACHD1	1	65119491	Missense_Mutation	SNP	C	TCGA-ET-A2N0-01A-11D-A18F-08		65119491	184131130	1	7649											
SLAMF8	56833	broad.mit.edu	37	chr1	159799720	159799720	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcgggggctcggtgctgctGgtggcagcgcgtccccctgg	19	13	0	0			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr1:159799720G>T	ENST00000289707.5	+	2	254	c.105G>T	c.(103-105)ctG>ctT	p.L35L	SLAMF8_ENST00000368104.4_Intron	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	35					cellular response to drug (GO:0035690)|defense response to bacterium (GO:0042742)|phagosome acidification (GO:0090383)|regulation of kinase activity (GO:0043549)|regulation of NAD(P)H oxidase activity (GO:0033860)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					CGGTGCTGCTGGTGGCAGCGC	0.612																																						ENST00000289707.5																			0				endometrium(2)|large_intestine(4)|lung(6)	12						c.(103-105)ctG>ctT		SLAM family member 8							102	114	110					1																	159799720		2203	4300	6503	SO:0001819	synonymous_variant	56833					integral to membrane		g.chr1:159799720G>T	AF146761	CCDS1188.1	1q23.1	2013-01-11			ENSG00000158714	ENSG00000158714		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21391	protein-coding gene	gene with protein product		606620				11313408	Standard	NM_020125		Approved	BLAME, SBBI42, CD353	uc001fue.4	Q9P0V8	OTTHUMG00000035433	ENST00000289707.5:c.105G>T	1.37:g.159799720G>T						SLAMF8_ENST00000368104.4_Intron	p.L35L	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN			2	254	+	all_hematologic(112;0.0597)		35					Q32MC6|Q5VU15	Silent	SNP	ENST00000289707.5	37	c.105G>T	CCDS1188.1																																																																																				0.612	SLAMF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085983.1	NM_020125		42	95	1	0	5.48756e-27	0.002852	9.43861e-27	42	95					T	159799720	G	T	159799720	2	4	361	1	0	0	0	0	0	0	0	1	14370	1335	47	4		4	SLAMF8	1	159799720	Silent	SNP	G	TCGA-ET-A2N0-01A-11D-A18F-08	94680229	159799720	89450901	2	7650											
FAM194A	131831	broad.mit.edu	37	chr3	150398571	150398571	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatgttacctttgcagggcTttttcttttgccttgagtct	8	9	2	1			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr3:150398571T>C	ENST00000295910.6	-	8	1081	c.1029A>G	c.(1027-1029)aaA>aaG	p.K343K	FAM194A_ENST00000491361.1_Silent_p.K197K	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTTGCAGGGCTTTTTCTTTTG	0.413																																						ENST00000295910.6																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1027-1029)aaA>aaG		family with sequence similarity 194, member A							149	146	147					3																	150398571		2203	4300	6503	SO:0001819	synonymous_variant	131831							g.chr3:150398571T>C																												ENST00000295910.6:c.1029A>G	3.37:g.150398571T>C						FAM194A_ENST00000491361.1_Silent_p.K197K	p.K343K	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN			8	1081	-			343						Silent	SNP	ENST00000295910.6	37	c.1029A>G	CCDS3151.2																																																																																				0.413	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			3	87	0	0	0	0.004672	0	3	87					C	150398571	T	C	150398571	2	2	361	1	0	0	0	0	0	0	0	1	5526	1606	56	3		3	FAM194A	3	150398571	Silent	SNP	T	TCGA-ET-A2N0-01A-11D-A18F-08		150398571	47623859	3	7651											
BOD1L	259282	broad.mit.edu	37	chr4	13601157	13601157	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttctcttctgcatttatgAggtgtaaagtgctctctttc	7	9	4	1			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr4:13601157A>G	ENST00000040738.5	-	10	7502	c.7367T>C	c.(7366-7368)cTc>cCc	p.L2456P		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2456						nucleus (GO:0005634)	DNA binding (GO:0003677)										TGCATTTATGAGGTGTAAAGT	0.468											OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000040738.5																			0											c.(7366-7368)cTc>cCc		biorientation of chromosomes in cell division 1-like 1							164	147	153					4																	13601157		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13601157A>G	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.7367T>C	4.37:g.13601157A>G	ENSP00000040738:p.Leu2456Pro		OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	688		p.L2456P	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	7502	-			2456					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.7367T>C	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	A	13.05	2.120234	0.37436	.	.	ENSG00000038219	ENST00000040738	T	0.09350	2.99	4.17	-0.642	0.11486	.	0.433636	0.16546	N	0.209707	T	0.06781	0.0173	L	0.27053	0.805	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.30937	-0.9961	10	0.40728	T	0.16	.	8.0002	0.30293	0.597:0.0:0.403:0.0	.	2456	Q8NFC6	BOD1L_HUMAN	P	2456	ENSP00000040738:L2456P	ENSP00000040738:L2456P	L	-	2	0	BOD1L	13210255	0.000000	0.05858	0.003000	0.11579	0.018000	0.09664	0.222000	0.17699	-0.013000	0.14199	0.454000	0.30748	CTC		0.468	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		3	78	0	0	0	0.004672	0	3	78					G	13601157	A	G	13601157	3	3	361	1	0	0	0	0	1	0	0	0	1483	304	11	3	1856	3	BOD1L	4	13601157	Missense_Mutation	SNP	A	TCGA-ET-A2N0-01A-11D-A18F-08		13601157	177553119	4	7652											
TACR3	6870	broad.mit.edu	37	chr4	104640780	104640780	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaggttcacggcgtctgcaCccacgcctccacccccgtct	8	20	4	0			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr4:104640780C>A	ENST00000304883.2	-	1	193	c.53G>T	c.(52-54)gGt>gTt	p.G18V		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	18					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GGCGTCTGCACCCACGCCTCC	0.687																																						ENST00000304883.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(52-54)gGt>gTt		tachykinin receptor 3							37	43	41					4																	104640780		2202	4297	6499	SO:0001583	missense	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104640780C>A	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"GPCR / Class A : Tachykinin receptors"	11528	protein-coding gene	gene with protein product	"neurokinin beta receptor"	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.53G>T	4.37:g.104640780C>A	ENSP00000303325:p.Gly18Val						p.G18V	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	1	193	-		Hepatocellular(203;0.217)	18					Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	c.53G>T	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034992	0.35893	.	.	ENSG00000169836	ENST00000304883	T	0.64803	-0.12	3.79	0.907	0.19321	.	2.348000	0.02229	N	0.064766	T	0.48732	0.1516	L	0.29908	0.895	0.09310	N	0.999993	B	0.24186	0.099	B	0.14023	0.01	T	0.41466	-0.9507	10	0.54805	T	0.06	.	3.8531	0.08963	0.1615:0.5794:0.1583:0.1008	.	18	P29371	NK3R_HUMAN	V	18	ENSP00000303325:G18V	ENSP00000303325:G18V	G	-	2	0	TACR3	104860229	0.000000	0.05858	0.002000	0.10522	0.154000	0.21943	0.418000	0.21230	0.790000	0.33803	0.313000	0.20887	GGT		0.687	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		13	21	1	0	1.05317e-09	0.00245	1.67727e-09	13	21					A	104640780	C	A	104640780	3	1	361	1	0	0	0	0	1	0	0	0	15504	507	18	4	1364	4	TACR3	4	104640780	Missense_Mutation	SNP	C	TCGA-ET-A2N0-01A-11D-A18F-08	91039623	104640780	86513496	5	7653											
TIFAB	140947	broad.mit.edu	37	chr5	134785451	134785451	+	5'Flank	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttctccaggtagggctccAgggacaggtgacggcgggag	17	10	1	1			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr5:134785451A>G	ENST00000503143.2	-	0	0				TIFAB_ENST00000537858.1_Missense_Mutation_p.L60P|CTB-138E5.1_ENST00000510230.1_RNA	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN								nucleus (GO:0005634)				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTAGGGCTCCAGGGACAGGTG	0.667																																						ENST00000537858.1																			0				breast(1)|endometrium(1)|liver(1)|lung(5)	8						c.(178-180)cTg>cCg		TRAF-interacting protein with forkhead-associated domain, family member B							41	47	45					5																	134785451		2101	4230	6331	SO:0001631	upstream_gene_variant	497189							g.chr5:134785451A>G																													5.37:g.134785451A>G	Exception_encountered						p.L60P	NM_001099221.1	NP_001092691.1	Q6ZNK6	TIFAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	379	-			60			FHA.			Missense_Mutation	SNP	ENST00000503143.2	37	c.179T>C	CCDS4186.1	.	.	.	.	.	.	.	.	.	.	A	18.97	3.736423	0.69189	.	.	ENSG00000255833	ENST00000537858	D	0.90385	-2.66	4.91	4.91	0.64330	Forkhead-associated (FHA) domain (2);SMAD/FHA domain (1);	0.237373	0.27080	U	0.021036	D	0.93923	0.8055	M	0.68952	2.095	0.54753	D	0.999986	D	0.89917	1.0	D	0.91635	0.999	D	0.94189	0.7439	10	0.87932	D	0	.	11.2171	0.48833	1.0:0.0:0.0:0.0	.	60	Q6ZNK6	TIFAB_HUMAN	P	60	ENSP00000440509:L60P	ENSP00000440509:L60P	L	-	2	0	TIFAB	134813350	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.126000	0.42026	1.964000	0.57103	0.460000	0.39030	CTG		0.667	C5orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372531.1			3	70	0	0	0	0.004672	0	3	70					G	134785451	A	G	134785451	1	3	361	0	1	0	0	0	0	0	0	0	15892	188	7	3		3	TIFAB	5	134785451	5'Flank	SNP	A	TCGA-ET-A2N0-01A-11D-A18F-08		134785451	46129809	6	7654											
SLC22A3	6581	broad.mit.edu	37	chr6	160868784	160868786	+	In_Frame_Del	DEL	TGC	TGC	-													catctgtggtggccttgtgaTgcttttgcctgaaaccaagg							TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr6:160868784_160868786delTGC	ENST00000275300.2	+	10	1696_1698	c.1544_1546delTGC	c.(1543-1548)atgctt>att	p.515_516ML>I	SLC22A3_ENST00000392145.1_In_Frame_Del_p.516_517ML>I	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	515					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|histamine uptake (GO:0051615)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|regulation of appetite (GO:0032098)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine transmembrane transporter activity (GO:0005329)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|toxin transporter activity (GO:0019534)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	Adefovir Dipivoxil(DB00718)|Amphetamine(DB00182)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Colchicine(DB01394)|Desipramine(DB01151)|Dopamine(DB00988)|Estradiol(DB00783)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imipramine(DB00458)|Irinotecan(DB00762)|Lamivudine(DB00709)|Melphalan(DB01042)|Metformin(DB00331)|Methamphetamine(DB01577)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Phenoxybenzamine(DB00925)|Prazosin(DB00457)|Procainamide(DB01035)|Progesterone(DB00396)|Testosterone(DB00624)|Vincristine(DB00541)	GGCCTTGTGATGCTTTTGCCTGA	0.498																																						ENST00000392145.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(1546-1551)att>a		solute carrier family 22 (organic cation transporter), member 3																																				SO:0001651	inframe_deletion	6581					integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity	g.chr6:160868784_160868786delTGC	AF078749	CCDS5277.1	6q25.3	2013-07-18	2013-07-18		ENSG00000146477	ENSG00000146477		"Solute carriers"	10967	protein-coding gene	gene with protein product		604842	"solute carrier family 22 (extraneuronal monoamine transporter), member 3"			9632645, 9933568	Standard	NM_021977		Approved	OCT3, EMT	uc003qti.4	O75751	OTTHUMG00000015953	ENST00000275300.2:c.1544_1546delTGC	6.37:g.160868784_160868786delTGC	ENSP00000275300:p.Met515_Leu516delinsIle					SLC22A3_ENST00000275300.2_In_Frame_Del_p.ML515del	p.ML516del			O75751	S22A3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	10	1574_1576	+		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)	515					Q5SYN6|Q9UP02	In_Frame_Del	DEL	ENST00000275300.2	37	c.1547_1549delTGC	CCDS5277.1																																																																																				0.498	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042953.1	NM_021977		28	79						28	79	---	---	---	---	-	160868786	TGC	-	160868784	7	5	361	1	0	1	0	1	0	0	0	0	14455	1464	51	0	1582	0	SLC22A3	6	160868784	In_Frame_Del	DEL	TGC	TCGA-ET-A2N0-01A-11D-A18F-08		160868784	10246283	7	7655											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		22	36	0	0	0	0.002299	0	22	36					T	140453136	A	T	140453136	3	4	361	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A2N0-01A-11D-A18F-08		140453136	18685527	8	7656											
PWWP2B	170394	broad.mit.edu	37	chr10	134218293	134218293	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggttcagccccccgagaccAcccgccccgagccacccccg	10	23	1	1			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr10:134218293A>C	ENST00000305233.5	+	2	348	c.289A>C	c.(289-291)Acc>Ccc	p.T97P	PWWP2B_ENST00000368609.4_Missense_Mutation_p.T97P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	97	Pro-rich.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CCCCGAGACCACCCGCCCCGA	0.756																																						ENST00000305233.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						c.(289-291)Acc>Ccc		PWWP domain containing 2B							8	10	9					10																	134218293		2012	4035	6047	SO:0001583	missense	170394							g.chr10:134218293A>C	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"PWWP domain containing 2"	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.289A>C	10.37:g.134218293A>C	ENSP00000306324:p.Thr97Pro					PWWP2B_ENST00000368609.4_Missense_Mutation_p.T97P	p.T97P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)	2	348	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	97			Pro-rich.		A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Missense_Mutation	SNP	ENST00000305233.5	37	c.289A>C	CCDS7667.2	.	.	.	.	.	.	.	.	.	.	A	5.486	0.274753	0.10403	.	.	ENSG00000171813	ENST00000305233;ENST00000368609	T;T	0.56275	0.47;1.46	2.52	-4.44	0.03557	.	0.656446	0.13135	U	0.411121	T	0.27027	0.0662	N	0.19112	0.55	0.09310	N	1	B	0.27192	0.171	B	0.18263	0.021	T	0.06899	-1.0801	10	0.37606	T	0.19	2.6811	4.8705	0.13629	0.4748:0.0:0.3827:0.1425	.	97	Q6NUJ5	PWP2B_HUMAN	P	97	ENSP00000306324:T97P;ENSP00000357598:T97P	ENSP00000306324:T97P	T	+	1	0	PWWP2B	134068283	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.981000	0.00662	-0.950000	0.03659	-1.114000	0.02060	ACC		0.756	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		6	9	0	0	0	0.001984	0	6	9					C	134218293	A	C	134218293	3	2	361	1	0	0	0	0	1	0	0	0	12846	159	6	5	295	5	PWWP2B	10	134218293	Missense_Mutation	SNP	A	TCGA-ET-A2N0-01A-11D-A18F-08		134218293	1316454	9	7657											
OR51G1	79324	broad.mit.edu	37	chr11	4945145	4945145	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagccccatcttgacaataCatgcaggtgtcaggacggtg	11	10	2	1			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr11:4945145C>T	ENST00000321961.2	-	1	492	c.425G>A	c.(424-426)tGt>tAt	p.C142Y	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTGACAATACATGCAGGTGT	0.522																																						ENST00000321961.2																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25						c.(424-426)tGt>tAt		olfactory receptor, family 51, subfamily G, member 1							102	87	92					11																	4945145		2201	4298	6499	SO:0001583	missense	79324				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4945145C>T	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"GPCR / Class A : Olfactory receptors"	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.425G>A	11.37:g.4945145C>T	ENSP00000322546:p.Cys142Tyr					MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.C142Y	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	492	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	142					B9EGW8|Q6IFH6	Missense_Mutation	SNP	ENST00000321961.2	37	c.425G>A	CCDS31366.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.627472	0.00115	.	.	ENSG00000176879	ENST00000321961	T	0.35789	1.29	4.2	2.24	0.28232	GPCR, rhodopsin-like superfamily (1);	0.209781	0.21819	U	0.068649	T	0.19846	0.0477	N	0.08118	0	0.09310	N	1	B	0.19583	0.037	B	0.29440	0.102	T	0.23868	-1.0176	10	0.32370	T	0.25	.	10.0396	0.42151	0.1376:0.779:0.0:0.0834	.	142	Q8NGK1	O51G1_HUMAN	Y	142	ENSP00000322546:C142Y	ENSP00000322546:C142Y	C	-	2	0	OR51G1	4901721	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.340000	0.07821	0.065000	0.16485	-1.151000	0.01829	TGT		0.522	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237		15	30	0	0	0	0.004007	0	15	30					T	4945145	C	T	4945145	3	4	361	1	0	0	0	0	1	0	0	0	11098	478	17	2	542	2	OR51G1	11	4945145	Missense_Mutation	SNP	C	TCGA-ET-A2N0-01A-11D-A18F-08		4945145	130061371	10	7658											
IGSF9B	22997	broad.mit.edu	37	chr11	133790942	133790942	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtcctcgttctcctcgTccgactggcggaactcgggg	15	13	1	0			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr11:133790942T>C	ENST00000321016.8	-	18	2908	c.2678A>G	c.(2677-2679)gAc>gGc	p.D893G	IGSF9B_ENST00000533871.2_Missense_Mutation_p.D893G			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	893					homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GTTCTCCTCGTCCGACTGGCG	0.647																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(2677-2679)gAc>gGc		immunoglobulin superfamily, member 9B							74	89	84					11																	133790942		2119	4207	6326	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133790942T>C	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2678A>G	11.37:g.133790942T>C	ENSP00000317980:p.Asp893Gly					IGSF9B_ENST00000533871.2_Missense_Mutation_p.D893G	p.D893G			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	2908	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	893					G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.2678A>G		.	.	.	.	.	.	.	.	.	.	T	20.7	4.030454	0.75504	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.71934	-0.29;-0.61	4.62	4.62	0.57501	.	0.000000	0.46145	D	0.000303	T	0.79263	0.4416	L	0.51422	1.61	0.53688	D	0.999971	D	0.63880	0.993	D	0.72338	0.977	T	0.80269	-0.1453	10	0.52906	T	0.07	.	13.8645	0.63581	0.0:0.0:0.0:1.0	.	893	Q9UPX0	TUTLB_HUMAN	G	893;735	ENSP00000317980:D893G;ENSP00000436552:D735G	ENSP00000317980:D893G	D	-	2	0	IGSF9B	133296152	1.000000	0.71417	0.795000	0.32087	0.994000	0.84299	7.468000	0.80943	1.943000	0.56356	0.459000	0.35465	GAC		0.647	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		25	50	0	0	0	0.004656	0	25	50					C	133790942	T	C	133790942	3	2	361	1	0	0	0	0	1	0	0	0	7606	1667	58	3	1379	3	IGSF9B	11	133790942	Missense_Mutation	SNP	T	TCGA-ET-A2N0-01A-11D-A18F-08	128845797	133790942	1215574	11	7659											
VWF	7450	broad.mit.edu	37	chr12	6120922	6120922	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatctggctggcaagtcacGgtgtggcactggtctggcaa	14	11	3	0			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr12:6120922G>A	ENST00000261405.5	-	34	5957	c.5703C>T	c.(5701-5703)acC>acT	p.T1901T		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1901					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)	GGCAAGTCACGGTGTGGCACT	0.577																																						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.(5701-5703)acC>acT		von Willebrand factor	Antihemophilic Factor(DB00025)																																			SO:0001819	synonymous_variant	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.chr12:6120922G>A		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.5703C>T	12.37:g.6120922G>A							p.T1901T	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			34	5957	-			1901					Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	c.5703C>T	CCDS8539.1																																																																																				0.577	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		3	39	0	0	0	0.000248	0	3	39					A	6120922	G	A	6120922	2	1	361	1	0	0	0	0	0	0	0	1	17243	1103	39	1		1	VWF	12	6120922	Silent	SNP	G	TCGA-ET-A2N0-01A-11D-A18F-08		6120922	127730973	12	7660											
PIK3R5	23533	broad.mit.edu	37	chr17	8792478	8792479	+	Frame_Shift_Ins	INS	-	-	T													agctgtcctggctccagctgINStaggtgtagcacctggcgac							TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr17:8792478_8792479insT	ENST00000447110.1	-	9	996_997	c.872_873insA	c.(871-873)tacfs	p.Y291fs	PIK3R5_ENST00000581552.1_Frame_Shift_Ins_p.Y291fs|PIK3R5_ENST00000584803.1_Frame_Shift_Ins_p.Y291fs	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	291				AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122). {ECO:0000305}.	blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GGCTCCAGCTGTAGGTGTAGCA	0.594																																					NSCLC(18;589 615 7696 20311 50332)	ENST00000447110.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(871-873)tagfs		phosphoinositide-3-kinase, regulatory subunit 5																																				SO:0001589	frameshift_variant	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8792478_8792479insT	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.873dupA	17.37:g.8792479_8792479dupT	ENSP00000392812:p.Tyr291fs					PIK3R5_ENST00000581552.1_Frame_Shift_Ins_p.*291fs|PIK3R5_ENST00000584803.1_Frame_Shift_Ins_p.*291fs	p.*291fs	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN			9	996_997	-			291	AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122).				B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Frame_Shift_Ins	INS	ENST00000447110.1	37	c.872_873insA	CCDS11147.1																																																																																				0.594	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		11	17						11	17	---	---	---	---	T	8792479	-	T	8792478	7	5	361	1	0	1	1	0	0	0	0	0	11922	1372	48	0	1813	0	PIK3R5	17	8792478	Frame_Shift_Ins	INS	-	TCGA-ET-A2N0-01A-11D-A18F-08		8792478	72402732	13	7661											
GOSR2	9570	broad.mit.edu	37	chr17	45016025	45016025	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgtccaacacagtgatgCggctcatcgagaagcgggct	13	11	1	2			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr17:45016025C>T	ENST00000393456.2	+	6	595	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W	GOSR2_ENST00000576910.2_Missense_Mutation_p.R133W|GOSR2_ENST00000225567.4_Missense_Mutation_p.R180W|RP11-156P1.2_ENST00000571841.1_Missense_Mutation_p.R180W|GOSR2_ENST00000439730.2_Missense_Mutation_p.R180W	NM_004287.3	NP_004278.2	O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2	180					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7			BRCA - Breast invasive adenocarcinoma(9;0.102)			CACAGTGATGCGGCTCATCGA	0.493																																						ENST00000576910.2																			0				kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7						c.(397-399)Cgg>Tgg		golgi SNAP receptor complex member 2							277	241	253					17																	45016025		2203	4300	6503	SO:0001583	missense	9570				cellular membrane fusion|ER to Golgi vesicle-mediated transport|protein transport	Golgi membrane|integral to membrane	transporter activity	g.chr17:45016025C>T	AF007548	CCDS11507.1, CCDS42355.1, CCDS45719.1	17q21	2006-02-10				ENSG00000108433			4431	protein-coding gene	gene with protein product		604027				9349823, 10198168	Standard	XM_005257843		Approved	GS27, Bos1	uc002ikz.3	O14653		ENST00000393456.2:c.538C>T	17.37:g.45016025C>T	ENSP00000377101:p.Arg180Trp					RP11-156P1.2_ENST00000571841.1_Missense_Mutation_p.R180W|GOSR2_ENST00000439730.2_Missense_Mutation_p.R180W|GOSR2_ENST00000225567.4_Missense_Mutation_p.R180W|GOSR2_ENST00000393456.2_Missense_Mutation_p.R180W	p.R133W			O14653	GOSR2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.102)		5	473	+			180					D3DXJ5|D3DXJ6|Q8N4B8|Q96DA5|Q9BZZ4	Missense_Mutation	SNP	ENST00000393456.2	37	c.397C>T	CCDS42355.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898222	0.72639	.	.	ENSG00000108433	ENST00000225567;ENST00000393456;ENST00000439730	T;T;T	0.79352	-1.26;-1.26;-1.26	4.84	1.52	0.23074	.	0.000000	0.85682	D	0.000000	D	0.89588	0.6758	M	0.92077	3.27	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	D	0.90816	0.4705	10	0.87932	D	0	-8.7805	13.6926	0.62556	0.4145:0.5855:0.0:0.0	.	180;180;180	E7EQ34;O14653;O14653-2	.;GOSR2_HUMAN;.	W	180	ENSP00000225567:R180W;ENSP00000377101:R180W;ENSP00000390577:R180W	ENSP00000225567:R180W	R	+	1	2	GOSR2	42371024	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.349000	0.33998	0.262000	0.21774	0.655000	0.94253	CGG		0.493	GOSR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440438.1			6	203	0	0	0	0.00308	0	6	203					T	45016025	C	T	45016025	3	4	361	1	0	0	0	0	1	0	0	0	6578	759	27	1	671	1	GOSR2	17	45016025	Missense_Mutation	SNP	C	TCGA-ET-A2N0-01A-11D-A18F-08	36223547	45016025	36179185	14	7662											
NDUFV2	4729	broad.mit.edu	37	chr18	9126840	9126840	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttccaggaggatttgacAgctaaggatattgaagaaat	10	4	0	3			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr18:9126840A>G	ENST00000318388.6	+	7	705	c.591A>G	c.(589-591)acA>acG	p.T197T	RP11-143J12.2_ENST00000583081.1_RNA|NDUFV2_ENST00000400033.1_Silent_p.T200T|RP11-143J12.2_ENST00000582375.1_RNA|NDUFV2_ENST00000465096.1_3'UTR|RP11-21J18.1_ENST00000579126.1_RNA	NM_021074.4	NP_066552.2	P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	197					cardiac muscle tissue development (GO:0048738)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|nervous system development (GO:0007399)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|lung(4)|ovary(1)|stomach(1)	7						AGGATTTGACAGCTAAGGATA	0.333																																						ENST00000400033.1																			0				breast(1)|lung(4)|ovary(1)|stomach(1)	7						c.(598-600)acA>acG		NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	NADH(DB00157)						98	116	110					18																	9126840		2203	4299	6502	SO:0001819	synonymous_variant	4729				cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity	g.chr18:9126840A>G	X84421	CCDS11842.1	18p11.22	2011-07-04	2002-08-29		ENSG00000178127	ENSG00000178127	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7717	protein-coding gene	gene with protein product	"complex I 24kDa subunit", "NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial"	600532	"NADH dehydrogenase (ubiquinone) flavoprotein 2 (24kD)"			9763677, 7607668	Standard	NM_021074		Approved	CI-24k	uc002knu.3	P19404	OTTHUMG00000131593	ENST00000318388.6:c.591A>G	18.37:g.9126840A>G						RP11-143J12.2_ENST00000583081.1_RNA|NDUFV2_ENST00000465096.1_3'UTR|NDUFV2_ENST00000318388.6_Silent_p.T197T|RP11-143J12.2_ENST00000582375.1_RNA|RP11-21J18.1_ENST00000579126.1_RNA	p.T200T			P19404	NDUV2_HUMAN			8	717	+			197					Q9BV41	Silent	SNP	ENST00000318388.6	37	c.600A>G	CCDS11842.1																																																																																				0.333	NDUFV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254475.2	NM_021074		7	145	0	0	0	0.00308	0	7	145					G	9126840	A	G	9126840	2	3	361	1	0	0	0	0	0	0	0	1	10300	175	7	3		3	NDUFV2	18	9126840	Silent	SNP	A	TCGA-ET-A2N0-01A-11D-A18F-08		9126840	68950408	15	7663											
CHGB	1114	broad.mit.edu	37	chr20	5904106	5904106	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgacaccagagaagagaaaaGgttcttgggtgaaggacacc	13	7	1	4			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr20:5904106G>T	ENST00000378961.4	+	4	1520	c.1316G>T	c.(1315-1317)aGg>aTg	p.R439M		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	439						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAAGAGAAAAGGTTCTTGGGT	0.547																																						ENST00000378961.4																			0				breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						c.(1315-1317)aGg>aTg		chromogranin B (secretogranin 1)							94	94	94					20																	5904106		2203	4300	6503	SO:0001583	missense	1114					extracellular region	hormone activity	g.chr20:5904106G>T		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"secretogranin B"	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.1316G>T	20.37:g.5904106G>T	ENSP00000368244:p.Arg439Met						p.R439M	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN			4	1520	+			439					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	ENST00000378961.4	37	c.1316G>T	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160415	0.57368	.	.	ENSG00000089199	ENST00000378961	T	0.01933	4.55	5.78	3.85	0.44370	.	0.267267	0.31847	N	0.006976	T	0.07593	0.0191	M	0.64997	1.995	0.22610	N	0.998936	D	0.76494	0.999	P	0.62649	0.905	T	0.05869	-1.0859	10	0.87932	D	0	-8.1577	7.8708	0.29565	0.2994:0.0:0.7006:0.0	.	439	P05060	SCG1_HUMAN	M	439	ENSP00000368244:R439M	ENSP00000368244:R439M	R	+	2	0	CHGB	5852106	0.082000	0.21442	0.975000	0.42487	0.484000	0.33280	0.762000	0.26503	1.442000	0.47568	0.655000	0.94253	AGG		0.547	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		31	47	1	0	7.01153e-11	0.007291	1.1596e-10	31	47					T	5904106	G	T	5904106	3	4	361	1	0	0	0	0	1	0	0	0	3339	1000	35	4	1330	4	CHGB	20	5904106	Missense_Mutation	SNP	G	TCGA-ET-A2N0-01A-11D-A18F-08		5904106	57121414	16	7664											
NUDT10	170685	broad.mit.edu	37	chrX	51076024	51076024	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccgagaggtgtacgaagaGgcgggagtcaaggggaagtt	19	5	1	2	rs143435240		TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	234					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657																																					NSCLC(90;1817 2035 37909 38249)	ENST00000376006.3																			8	Substitution - coding silent(8)	p.E69E(8)	endometrium(5)|cervix(1)|prostate(1)|lung(1)	cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(205-207)gaG>gaA		nudix (nucleoside diphosphate linked moiety X)-type motif 10							52	62	59					X																	51076024		2203	4300	6503	SO:0001819	synonymous_variant	170685					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51076024G>A	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"Nudix motif containing"	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.207G>A	X.37:g.51076024G>A						NUDT10_ENST00000356450.2_Silent_p.E69E	p.E69E	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN			2	427	+	Ovarian(276;0.236)		69			Nudix hydrolase.		Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	c.207G>A	CCDS35278.1																																																																																				0.657	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		3	47	0	0	0	0.004672	0	3	47					A	51076024	G	A	51076024	2	1	361	1	0	0	0	0	0	0	0	1	10726	991	35	2		2	NUDT10	23	51076024	Silent	SNP	G	TCGA-ET-A2N0-01A-11D-A18F-08		51076024	104194536	17	7665											
F8	2157	broad.mit.edu	37	chrX	154250785	154250785	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggcactaaagcagaatcGcaaaaggcacagaaagaagc	12	8	0	3	rs387906432		TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chrX:154250785G>A	ENST00000360256.4	-	1	243	c.43C>T	c.(43-45)Cga>Tga	p.R15*		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	15					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAGCAGAATCGCAAAAGGCAC	0.443																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	GRCh37	CM900085	F8	M		c.(43-45)Cga>Tga		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						178	150	160					X																	154250785		2203	4300	6503	SO:0001587	stop_gained	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154250785G>A	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.43C>T	X.37:g.154250785G>A	ENSP00000353393:p.Arg15*						p.R15*	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			1	243	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		15					Q14286|Q5HY69	Nonsense_Mutation	SNP	ENST00000360256.4	37	c.43C>T	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768332	0.90020	.	.	ENSG00000185010	ENST00000360256	.	.	.	5.18	-1.39	0.08997	.	3.009880	0.00702	N	0.000789	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	2.6923	13.2078	0.59807	0.0:0.0:0.2232:0.7768	.	.	.	.	X	15	.	ENSP00000353393:R15X	R	-	1	2	F8	153903979	0.001000	0.12720	0.000000	0.03702	0.359000	0.29487	0.445000	0.21677	-0.140000	0.11394	0.529000	0.55759	CGA		0.443	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			4	112	0	0	0	0.000248	0	4	112					A	154250785	G	A	154250785	4	1	361	1	0	0	0	0	0	1	0	0	5350	1095	38	1	7144	1	F8	23	154250785	Nonsense_Mutation	SNP	G	TCGA-ET-A2N0-01A-11D-A18F-08	103174761	154250785	1019775	18	7666											
SLCO6A1	133482	broad.mit.edu	37	chr5	101726729	101726729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacacccaaggccagagaaCgcagtttgtcaggtacaacc	9	12	1	1			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr5:101726729C>T	ENST00000506729.1	-	11	2006	c.1835G>A	c.(1834-1836)cGt>cAt	p.R612H	SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R612H|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.R359H|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.R359H|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R550H			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	612						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GGCCAGAGAACGCAGTTTGTC	0.328																																						ENST00000506729.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1834-1836)cGt>cAt		solute carrier organic anion transporter family, member 6A1							120	117	118					5																	101726729		2203	4300	6503	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101726729C>T	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"Solute carriers"	23613	protein-coding gene	gene with protein product	"cancer/testis antigen 48"	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1835G>A	5.37:g.101726729C>T	ENSP00000421339:p.Arg612His					SLCO6A1_ENST00000513675.1_Missense_Mutation_p.R359H|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R550H|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R612H|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.R359H	p.R612H			Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	11	2006	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	612					A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.1835G>A	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	C	6.306	0.424574	0.11928	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	4.9	-0.118	0.13547	Major facilitator superfamily domain, general substrate transporter (1);	0.394210	0.22648	N	0.057364	T	0.36138	0.0956	L	0.52364	1.645	0.09310	N	1	B;P;B	0.39116	0.208;0.66;0.295	B;B;B	0.40602	0.024;0.334;0.061	T	0.17048	-1.0382	10	0.42905	T	0.14	.	3.777	0.08665	0.0:0.3445:0.1917:0.4638	.	550;359;612	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	H	612;612;550;359;359	ENSP00000421339:R612H;ENSP00000369135:R612H;ENSP00000373671:R550H;ENSP00000421990:R359H;ENSP00000369138:R359H	ENSP00000369135:R612H	R	-	2	0	SLCO6A1	101754628	0.043000	0.20138	0.001000	0.08648	0.478000	0.33099	0.236000	0.17967	0.069000	0.16605	0.655000	0.94253	CGT		0.328	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		36	66	0	0	0	0.007835	0	36	66					T	101726729	C	T	101726729	3	4	362	1	0	0	0	0	1	0	0	0	14732	536	19	1	336	1	SLCO6A1	5	101726729	Missense_Mutation	SNP	C	TCGA-ET-A2N1-01A-11D-A18F-08		101726729	79188531	1	7667											
ZNF33B	7582	broad.mit.edu	37	chr10	43088158	43088158	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtgttacattcatagggcTtttcccctgtatgtgatctc	8	9	2	1			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr10:43088158T>C	ENST00000359467.3	-	5	2354	c.2240A>G	c.(2239-2241)aAg>aGg	p.K747R	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	747					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TTCATAGGGCTTTTCCCCTGT	0.373																																					Melanoma(137;1247 1767 16772 25727 43810)	ENST00000359467.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						c.(2239-2241)aAg>aGg		zinc finger protein 33B							153	148	149					10																	43088158		2203	4300	6503	SO:0001583	missense	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43088158T>C	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"Zinc fingers, C2H2-type", "-"	13097	protein-coding gene	gene with protein product		194522	"zinc finger protein 33b (KOX 31)", "zinc finger protein 11B"	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.2240A>G	10.37:g.43088158T>C	ENSP00000352444:p.Lys747Arg					ZNF33B_ENST00000486187.1_RNA	p.K747R	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN			5	2354	-			747					Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	37	c.2240A>G	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	T	13.72	2.319978	0.41096	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	T	0.24908	1.83	2.64	2.64	0.31445	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35646	N	0.003076	T	0.23611	0.0571	N	0.20574	0.59	0.25257	N	0.989621	B	0.28605	0.217	B	0.43950	0.437	T	0.29305	-1.0016	10	0.56958	D	0.05	.	9.1471	0.36939	0.0:0.0:0.0:1.0	.	747	Q06732	ZN33B_HUMAN	R	747;713	ENSP00000352444:K747R	ENSP00000352444:K747R	K	-	2	0	ZNF33B	42408164	0.102000	0.21896	1.000000	0.80357	0.855000	0.48748	0.185000	0.16958	1.470000	0.48102	0.336000	0.21669	AAG		0.373	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		3	100	0	0	0	0.004672	0	3	100					C	43088158	T	C	43088158	3	2	362	1	0	0	0	0	1	0	0	0	17852	1609	56	3	100	3	ZNF33B	10	43088158	Missense_Mutation	SNP	T	TCGA-ET-A2N1-01A-11D-A18F-08		43088158	92446589	2	7668											
TBC1D12	23232	broad.mit.edu	37	chr10	96163149	96163149	+	Frame_Shift_Del	DEL	C	C	-													cgagaggactaatgggggtgCggagccgcgcctgggctttt							TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr10:96163149delC	ENST00000225235.4	+	1	889	c.779delC	c.(778-780)gcgfs	p.A260fs		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	260							Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				AATGGGGGTGCGGAGCCGCGC	0.701																																						ENST00000225235.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20						c.(778-780)ggfs		TBC1 domain family, member 12							6	9	8					10																	96163149		1731	3835	5566	SO:0001589	frameshift_variant	23232					intracellular	Rab GTPase activator activity	g.chr10:96163149delC	AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.779delC	10.37:g.96163149delC	ENSP00000225235:p.Ala260fs						p.A260fs	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN			1	889	+		Colorectal(252;0.0429)	260					Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Frame_Shift_Del	DEL	ENST00000225235.4	37	c.779delC	CCDS41553.1																																																																																				0.701	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2			2	4						2	4	---	---	---	---	-	96163149	C	-	96163149	7	5	362	1	0	1	0	1	0	0	0	0	15598	768	27	0	781	0	TBC1D12	10	96163149	Frame_Shift_Del	DEL	C	TCGA-ET-A2N1-01A-11D-A18F-08	53074991	96163149	39371598	3	7669											
DDX23	9416	broad.mit.edu	37	chr12	49230719	49230719	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggttcgcctcttctccattAggtctccatagaaacgtgac	9	12	3	2			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr12:49230719A>G	ENST00000308025.3	-	9	1047	c.968T>C	c.(967-969)cTa>cCa	p.L323P	DDX23_ENST00000553182.1_5'Flank	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	323					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CTTCTCCATTAGGTCTCCATA	0.532																																						ENST00000308025.3																			0				NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						c.(967-969)cTa>cCa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 23							302	312	309					12																	49230719		2203	4300	6503	SO:0001583	missense	9416					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	g.chr12:49230719A>G	AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"DEAD-boxes"	17347	protein-coding gene	gene with protein product		612172	"PRP28 homolog, yeast"			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.968T>C	12.37:g.49230719A>G	ENSP00000310723:p.Leu323Pro						p.L323P	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN			9	1047	-			323					B2R600|B4DH15|O43188	Missense_Mutation	SNP	ENST00000308025.3	37	c.968T>C	CCDS8770.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.051342	0.75960	.	.	ENSG00000174243	ENST00000308025	T	0.24908	1.83	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000001	T	0.46425	0.1392	M	0.64170	1.965	0.80722	D	1	D	0.69078	0.997	D	0.64506	0.926	T	0.36866	-0.9730	10	0.46703	T	0.11	-6.8977	14.9188	0.70818	1.0:0.0:0.0:0.0	.	323	Q9BUQ8	DDX23_HUMAN	P	323	ENSP00000310723:L323P	ENSP00000310723:L323P	L	-	2	0	DDX23	47516986	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	9.097000	0.94193	2.170000	0.68504	0.379000	0.24179	CTA		0.532	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818		4	404	0	0	0	0.000248	0	4	404					G	49230719	A	G	49230719	3	3	362	1	0	0	0	0	1	0	0	0	4350	420	15	3	1530	3	DDX23	12	49230719	Missense_Mutation	SNP	A	TCGA-ET-A2N1-01A-11D-A18F-08		49230719	84621176	4	7670											
YEATS4	8089	broad.mit.edu	37	chr12	69756619	69756619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaatgttgctcggtattttGgaaagaaaagagaagaagat	12	2	0	4			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr12:69756619G>A	ENST00000247843.2	+	2	373	c.103G>A	c.(103-105)Gga>Aga	p.G35R	YEATS4_ENST00000548020.1_Missense_Mutation_p.G35R	NM_006530.2	NP_006521.1	O95619	YETS4_HUMAN	YEATS domain containing 4	35	YEATS. {ECO:0000255|PROSITE- ProRule:PRU00376}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding transcription factor activity (GO:0003700)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)	5	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			TCGGTATTTTGGAAAGAAAAG	0.323																																						ENST00000247843.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)	5						c.(103-105)Gga>Aga		YEATS domain containing 4							132	132	132					12																	69756619		2203	4300	6503	SO:0001583	missense	8089				histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth	NuA4 histone acetyltransferase complex|nuclear matrix	DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton	g.chr12:69756619G>A	AJ245746	CCDS8990.1, CCDS73495.1	12q13-q15	2008-02-05				ENSG00000127337			24859	protein-coding gene	gene with protein product		602116				9302258, 11903063	Standard	XM_005269163		Approved	NuBI-1, GAS41, YAF9	uc001sux.3	O95619	OTTHUMG00000169358	ENST00000247843.2:c.103G>A	12.37:g.69756619G>A	ENSP00000247843:p.Gly35Arg					YEATS4_ENST00000548020.1_Missense_Mutation_p.G35R	p.G35R	NM_006530.2	NP_006521.1	O95619	YETS4_HUMAN	Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)		2	373	+	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		35			YEATS.		Q9NQD0	Missense_Mutation	SNP	ENST00000247843.2	37	c.103G>A	CCDS8990.1	.	.	.	.	.	.	.	.	.	.	G	33	5.287581	0.95517	.	.	ENSG00000127337	ENST00000247843;ENST00000548020;ENST00000552955	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.84483	0.5482	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.84551	0.0644	8	.	.	.	-21.7269	20.3736	0.98901	0.0:0.0:1.0:0.0	.	35	O95619	YETS4_HUMAN	R	35	.	.	G	+	1	0	YEATS4	68042886	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.866000	0.99616	2.820000	0.97059	0.650000	0.86243	GGA		0.323	YEATS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403663.1	NM_006530		8	59	0	0	0	0.00308	0	8	59					A	69756619	G	A	69756619	3	1	362	1	0	0	0	0	1	0	0	0	17470	1349	47	2	109	2	YEATS4	12	69756619	Missense_Mutation	SNP	G	TCGA-ET-A2N1-01A-11D-A18F-08	20525900	69756619	64095276	5	7671											
MRPS31	10240	broad.mit.edu	37	chr13	41331142	41331142	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttcatatctgatattatgtTactgaaactgaaataataaa	4	4	2	3			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr13:41331142T>A	ENST00000323563.6	-	4	643	c.607A>T	c.(607-609)Aac>Tac	p.N203Y		NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	203						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		GATATTATGTTACTGAAACTG	0.343																																						ENST00000323563.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13						c.(607-609)Aac>Tac		mitochondrial ribosomal protein S31							65	62	63					13																	41331142		2202	4300	6502	SO:0001583	missense	10240					mitochondrion|ribosome	protein domain specific binding	g.chr13:41331142T>A	Z68747	CCDS9372.1	13q14.11	2012-09-13			ENSG00000102738	ENSG00000102738		"Mitochondrial ribosomal proteins / small subunits"	16632	protein-coding gene	gene with protein product		611992				11279123, 8567980	Standard	NM_005830		Approved	IMOGN38	uc001uxm.4	Q92665	OTTHUMG00000016777	ENST00000323563.6:c.607A>T	13.37:g.41331142T>A	ENSP00000315397:p.Asn203Tyr						p.N203Y	NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)	4	643	-		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)	203					B2RCS3|Q5VYC8|Q8WTV8	Missense_Mutation	SNP	ENST00000323563.6	37	c.607A>T	CCDS9372.1	.	.	.	.	.	.	.	.	.	.	T	12.29	1.892286	0.33442	.	.	ENSG00000102738	ENST00000323563	T	0.32515	1.45	4.64	2.1	0.27182	.	0.295570	0.37483	N	0.002077	T	0.46983	0.1421	M	0.77616	2.38	0.26572	N	0.973541	D	0.64830	0.994	D	0.63597	0.916	T	0.36578	-0.9742	10	0.72032	D	0.01	.	4.9565	0.14044	0.0:0.1018:0.1945:0.7036	.	203	Q92665	RT31_HUMAN	Y	203	ENSP00000315397:N203Y	ENSP00000315397:N203Y	N	-	1	0	MRPS31	40229142	0.998000	0.40836	0.984000	0.44739	0.328000	0.28507	0.425000	0.21346	0.215000	0.20761	0.455000	0.32223	AAC		0.343	MRPS31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044640.2			18	19	0	0	0	0.00499	0	18	19					A	41331142	T	A	41331142	3	1	362	1	0	0	0	0	1	0	0	0	9841	1754	61	5	596	5	MRPS31	13	41331142	Missense_Mutation	SNP	T	TCGA-ET-A2N1-01A-11D-A18F-08		41331142	73838736	6	7672											
DHRS4L2	317749	broad.mit.edu	37	chr14	24459498	24459498	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtggccacgctgcagggggAggggctgagcgtgacgggca	22	9	0	2			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr14:24459498A>G	ENST00000335125.6	+	2	362	c.236A>G	c.(235-237)gAg>gGg	p.E79G	DHRS4L2_ENST00000397071.1_Missense_Mutation_p.E79G|DHRS4L2_ENST00000537912.1_Missense_Mutation_p.E79G|DHRS4L2_ENST00000543805.1_5'UTR|DHRS4L2_ENST00000545240.1_Missense_Mutation_p.E79G|DHRS4L2_ENST00000382755.4_Missense_Mutation_p.E77G|DHRS4L2_ENST00000558753.1_Missense_Mutation_p.E79G|DHRS4L2_ENST00000534993.1_5'UTR	NM_198083.3	NP_932349.2	Q6PKH6	DR4L2_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	77						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		CTGCAGGGGGAGGGGCTGAGC	0.687																																						ENST00000335125.6																			0				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10						c.(235-237)gAg>gGg		dehydrogenase/reductase (SDR family) member 4 like 2							37	40	39					14																	24459498		2201	4298	6499	SO:0001583	missense	317749						binding|oxidoreductase activity	g.chr14:24459498A>G		CCDS9606.2, CCDS73621.1	14q11.2	2011-09-14			ENSG00000187630	ENSG00000187630	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	19731	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 3"	615196					Standard	NM_001193635		Approved	SDR25C3	uc001wlf.3	Q6PKH6	OTTHUMG00000028778	ENST00000335125.6:c.236A>G	14.37:g.24459498A>G	ENSP00000334801:p.Glu79Gly					DHRS4L2_ENST00000543805.1_5'UTR|DHRS4L2_ENST00000534993.1_5'UTR|DHRS4L2_ENST00000397071.1_Missense_Mutation_p.E79G|DHRS4L2_ENST00000537912.1_Missense_Mutation_p.E79G|DHRS4L2_ENST00000545240.1_Missense_Mutation_p.E79G|DHRS4L2_ENST00000382755.4_Missense_Mutation_p.E77G|DHRS4L2_ENST00000558753.1_Missense_Mutation_p.E79G	p.E79G	NM_198083.3	NP_932349.2	D5KJA1	D5KJA1_HUMAN		GBM - Glioblastoma multiforme(265;0.00962)	2	362	+			51					Q3YLD4	Missense_Mutation	SNP	ENST00000335125.6	37	c.236A>G	CCDS9606.2	.	.	.	.	.	.	.	.	.	.	A	11.51	1.660349	0.29515	.	.	ENSG00000187630	ENST00000348916;ENST00000397071;ENST00000335125;ENST00000537912;ENST00000545240;ENST00000382755	D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33	3.5	3.5	0.40072	NAD(P)-binding domain (1);	0.313351	0.34386	N	0.004018	D	0.86793	0.6018	N	0.21508	0.67	0.80722	D	1	B;D	0.76494	0.198;0.999	B;D	0.70935	0.17;0.971	D	0.86244	0.1645	10	0.49607	T	0.09	.	10.2563	0.43399	1.0:0.0:0.0:0.0	.	79;77	F6TD35;Q6PKH6	.;DR4L2_HUMAN	G	51;79;79;79;79;77	ENSP00000380261:E79G;ENSP00000334801:E79G;ENSP00000439942:E79G;ENSP00000437883:E79G;ENSP00000372203:E77G	ENSP00000334801:E79G	E	+	2	0	DHRS4L2	23529338	1.000000	0.71417	0.794000	0.32065	0.040000	0.13550	6.397000	0.73239	1.364000	0.46038	0.338000	0.21704	GAG		0.687	DHRS4L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071858.4			3	50	0	0	0	0.004672	0	3	50					G	24459498	A	G	24459498	3	3	362	1	0	0	0	0	1	0	0	0	4494	304	11	3	242	3	DHRS4L2	14	24459498	Missense_Mutation	SNP	A	TCGA-ET-A2N1-01A-11D-A18F-08		24459498	82890042	7	7673											
C15orf2	23742	broad.mit.edu	37	chr15	24923276	24923276	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcctgcacagtcagtcagGgcaccagctacagcttccaa	9	14	2	0			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr15:24923276G>A	ENST00000329468.2	+	1	2736	c.2262G>A	c.(2260-2262)agG>agA	p.R754R		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	754					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											AGTCAGTCAGGGCACCAGCTA	0.572																																						ENST00000329468.2																			0											c.(2260-2262)agG>agA		nuclear pore associated protein 1							117	124	122					15																	24923276		2203	4300	6503	SO:0001819	synonymous_variant	23742							g.chr15:24923276G>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2262G>A	15.37:g.24923276G>A							p.R754R	NM_018958.2	NP_061831.2					1	2736	+									Silent	SNP	ENST00000329468.2	37	c.2262G>A	CCDS10015.1																																																																																				0.572	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		7	191	0	0	0	0.006214	0	7	191					A	24923276	G	A	24923276	2	1	362	1	0	0	0	0	0	0	0	1	1784	1223	43	2		2	C15orf2	15	24923276	Silent	SNP	G	TCGA-ET-A2N1-01A-11D-A18F-08		24923276	77608116	8	7674											
CORO7	79585	broad.mit.edu	37	chr16	4411173	4411173	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgcctgacctgtgagcacAgtctctggcgtggtgagcac	13	13	1	3			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr16:4411173A>C	ENST00000251166.4	-	18	1909	c.1764T>G	c.(1762-1764)acT>acG	p.T588T	CORO7_ENST00000537233.2_Silent_p.T570T|CORO7-PAM16_ENST00000572467.1_Silent_p.T588T|CORO7_ENST00000539968.1_Silent_p.T368T|CORO7-PAM16_ENST00000572274.1_5'Flank|CORO7_ENST00000574025.1_Silent_p.T503T|CORO7_ENST00000423908.2_3'UTR	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	588					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CTGTGAGCACAGTCTCTGGCG	0.652																																						ENST00000251166.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(1762-1764)acT>acG		coronin 7							79	82	81					16																	4411173		2195	4298	6493	SO:0001819	synonymous_variant	79585							g.chr16:4411173A>C	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"Coronins", "WD repeat domain containing"	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.1764T>G	16.37:g.4411173A>C						CORO7_ENST00000574025.1_Silent_p.T503T|CORO7-PAM16_ENST00000572467.1_Silent_p.T588T|CORO7_ENST00000539968.1_Silent_p.T368T|CORO7_ENST00000423908.2_3'UTR|CORO7_ENST00000537233.2_Silent_p.T570T	p.T588T	NM_024535.4	NP_078811.3					18	1909	-								B4DFD6|B4DL18|I3L416|Q17RK4	Silent	SNP	ENST00000251166.4	37	c.1764T>G	CCDS10513.1																																																																																				0.652	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535		13	25	0	0	0	0.001855	0	13	25					C	4411173	A	C	4411173	2	2	362	1	0	0	0	0	0	0	0	1	3759	175	7	5		5	CORO7	16	4411173	Silent	SNP	A	TCGA-ET-A2N1-01A-11D-A18F-08		4411173	85943580	9	7675											
RABEP2	79874	broad.mit.edu	37	chr16	28920058	28920058	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgctttacctcatggtgcaGgcacttgtgggtggtgacca	13	11	1	1			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr16:28920058G>T	ENST00000358201.4	-	8	1705	c.1117C>A	c.(1117-1119)Ctg>Atg	p.L373M	RABEP2_ENST00000357573.6_Missense_Mutation_p.L341M|RABEP2_ENST00000544477.1_Missense_Mutation_p.L302M	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	373					endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						TCATGGTGCAGGCACTTGTGG	0.602																																					Pancreas(66;639 1284 10093 31061 49099)	ENST00000358201.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						c.(1117-1119)Ctg>Atg		rabaptin, RAB GTPase binding effector protein 2							129	133	132					16																	28920058		2072	4199	6271	SO:0001583	missense	79874				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity	g.chr16:28920058G>T	AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.1117C>A	16.37:g.28920058G>T	ENSP00000350934:p.Leu373Met					RABEP2_ENST00000544477.1_Missense_Mutation_p.L302M|RABEP2_ENST00000357573.6_Missense_Mutation_p.L341M	p.L373M	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN			8	1705	-			373						Missense_Mutation	SNP	ENST00000358201.4	37	c.1117C>A	CCDS42140.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.966815	0.53507	.	.	ENSG00000177548	ENST00000358201;ENST00000357573;ENST00000544477	T;T;T	0.38240	1.15;1.15;1.15	4.78	3.74	0.42951	Rabaptin, GTPase-Rab5 binding (1);	0.333064	0.24039	N	0.042112	T	0.44664	0.1304	L	0.41236	1.265	0.29872	N	0.826743	D;D;B	0.58970	0.984;0.98;0.383	P;P;P	0.59889	0.865;0.788;0.549	T	0.40136	-0.9579	10	0.72032	D	0.01	-16.2791	11.7519	0.51853	0.0:0.1958:0.8042:0.0	.	302;341;373	B4DHR0;Q9H5N1-2;Q9H5N1	.;.;RABE2_HUMAN	M	373;341;302	ENSP00000350934:L373M;ENSP00000350186:L341M;ENSP00000442798:L302M	ENSP00000350186:L341M	L	-	1	2	RABEP2	28827559	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	3.120000	0.50430	2.210000	0.71456	0.462000	0.41574	CTG		0.602	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1	NM_024816		41	71	1	0	1.61572e-30	0.002522	8.88649e-30	41	71					T	28920058	G	T	28920058	3	4	362	1	0	0	0	0	1	0	0	0	12962	991	35	4	616	4	RABEP2	16	28920058	Missense_Mutation	SNP	G	TCGA-ET-A2N1-01A-11D-A18F-08	24508885	28920058	61434695	10	7676											
NGFR	4804	broad.mit.edu	37	chr17	47583935	47583935	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgacgaggccaaccacgtGgacccgtgcctgccctgcac	11	18	0	0			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr17:47583935G>A	ENST00000172229.3	+	3	608	c.483G>A	c.(481-483)gtG>gtA	p.V161V	NGFR_ENST00000504201.1_Silent_p.V67V|RP5-1029K10.2_ENST00000514506.1_RNA	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	161					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|detection of temperature stimulus (GO:0016048)|glucose homeostasis (GO:0042593)|hair follicle morphogenesis (GO:0031069)|intracellular protein transport (GO:0006886)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of hair follicle development (GO:0051799)|nerve development (GO:0021675)|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 axonogenesis (GO:0050772)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cell surface (GO:0009986)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	death receptor activity (GO:0005035)|Rab GTPase binding (GO:0017137)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					CCAACCACGTGGACCCGTGCC	0.701																																						ENST00000172229.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17						c.(481-483)gtG>gtA		nerve growth factor receptor							31	23	26					17																	47583935		2193	4287	6480	SO:0001819	synonymous_variant	4804				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm		g.chr17:47583935G>A	M14764	CCDS11549.1	17q21-q22	2013-05-22	2010-04-28		ENSG00000064300	ENSG00000064300		"Tumor necrosis factor receptor superfamily", "CD molecules"	7809	protein-coding gene	gene with protein product	"low affinity nerve growth factor receptor", "TNFR superfamily, member 16"	162010	"nerve growth factor receptor (TNFR superfamily, member 16)"			3022937, 3006050	Standard	NM_002507		Approved	TNFRSF16, CD271, p75NTR	uc002ioz.4	P08138	OTTHUMG00000161495	ENST00000172229.3:c.483G>A	17.37:g.47583935G>A						NGFR_ENST00000504201.1_Silent_p.V67V|RP5-1029K10.2_ENST00000514506.1_RNA	p.V161V	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN			3	608	+	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)		161					B2R961|B4E096	Silent	SNP	ENST00000172229.3	37	c.483G>A	CCDS11549.1																																																																																				0.701	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365150.1			9	9	0	0	0	0.000978	0	9	9					A	47583935	G	A	47583935	2	1	362	1	0	0	0	0	0	0	0	1	10396	1335	47	2		2	NGFR	17	47583935	Silent	SNP	G	TCGA-ET-A2N1-01A-11D-A18F-08		47583935	33611275	11	7677											
FAM83E	54854	broad.mit.edu	37	chr19	49116552	49116552	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccgctggccctcggaataTagaaagccggggctggcccc	14	14	0	1			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr19:49116552T>C	ENST00000263266.3	-	1	267	c.78A>G	c.(76-78)ctA>ctG	p.L26L	FAM83E_ENST00000595110.1_5'Flank	NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	26										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CCTCGGAATATAGAAAGCCGG	0.701																																						ENST00000263266.3																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10						c.(76-78)ctA>ctG		family with sequence similarity 83, member E							9	10	10					19																	49116552		1675	3817	5492	SO:0001819	synonymous_variant	54854							g.chr19:49116552T>C	AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.78A>G	19.37:g.49116552T>C							p.L26L	NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	1	267	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	26					Q9NXK1	Silent	SNP	ENST00000263266.3	37	c.78A>G	CCDS42587.1																																																																																				0.701	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466145.1	NM_017708		6	6	0	0	0	0.001168	0	6	6					C	49116552	T	C	49116552	2	2	362	1	0	0	0	0	0	0	0	1	5637	1393	49	3		3	FAM83E	19	49116552	Silent	SNP	T	TCGA-ET-A2N1-01A-11D-A18F-08		49116552	10012431	12	7678											
OR14C36	127066	broad.mit.edu	37	chr1	248512355	248512355	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaccaccatttctaaggcGggatgtgtagctcaggtctt	11	10	3	0	rs146830794		TCGA-ET-A2N3-01B-21D-A23M-08	TCGA-ET-A2N3-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcfcc7e4-b937-4f55-a703-e73a783d1fc1	27ec3857-71ae-4f7d-944d-112b47b0b97d	g.chr1:248512355G>A	ENST00000317861.1	+	1	279	c.279G>A	c.(277-279)gcG>gcA	p.A93A		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A93A(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TTTCTAAGGCGGGATGTGTAG	0.478																																						ENST00000317861.1																			1	Substitution - coding silent(1)	p.A93A(1)	lung(1)	central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						c.(277-279)gcG>gcA		olfactory receptor, family 14, subfamily C, member 36		G		1,4405	2.1+/-5.4	0,1,2202	103	90	94		279	-7.8	0.0	1	dbSNP_134	94	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	OR14C36	NM_001001918.1		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		93/313	248512355	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	127066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248512355G>A	BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"GPCR / Class A : Olfactory receptors"	15026	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily BF, member 1"	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.279G>A	1.37:g.248512355G>A							p.A93A	NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN			1	279	+			93					Q6IEZ6	Silent	SNP	ENST00000317861.1	37	c.279G>A	CCDS31112.1																																																																																				0.478	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	NM_001001918		5	71	0	0	0	1	0	5	71					A	248512355	G	A	248512355	2	1	363	1	0	0	0	0	0	0	0	1	10946	1103	39	1		1	OR14C36	1	248512355	Silent	SNP	G	TCGA-ET-A2N3-01B-21D-A23M-08		248512355	738266	1	7679											
PLEKHA3	65977	broad.mit.edu	37	chr2	179360222	179360222	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agtctttgtgtaatttttcaGaacatgaatgaagcctcttc	7	7	3	3			TCGA-ET-A2N3-01B-21D-A23M-08	TCGA-ET-A2N3-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcfcc7e4-b937-4f55-a703-e73a783d1fc1	27ec3857-71ae-4f7d-944d-112b47b0b97d	g.chr2:179360222G>C	ENST00000234453.5	+	5	852		c.e5-1			NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3							Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			TAATTTTTCAGAACATGAATG	0.363																																						ENST00000234453.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11						c.e5-1		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3							91	84	86					2																	179360222		2203	4300	6503	SO:0001630	splice_region_variant	65977					cytoplasm|membrane		g.chr2:179360222G>C	AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"Pleckstrin homology (PH) domain containing"	14338	protein-coding gene	gene with protein product	"four-phosphate-adaptor protein 1"	607774	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446	ENST00000234453.5:c.451-1G>C	2.37:g.179360222G>C								NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)		5	852	+								Q4ZG69|Q86TQ1|Q9NXT3	Splice_Site	SNP	ENST00000234453.5	37		CCDS33336.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.410541	0.83340	.	.	ENSG00000116095	ENST00000234453	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3747	0.98911	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLEKHA3	179068468	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.213000	0.95133	2.817000	0.96982	0.563000	0.77884	.		0.363	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335241.2	NM_019091	Intron	36	38	0	0	0	1	0	36	38					C	179360222	G	C	179360222	5	2	363	1	0	0	0	0	0	0	1	0	12057	956	33	4	468	4	PLEKHA3	2	179360222	Splice_Site	SNP	G	TCGA-ET-A2N3-01B-21D-A23M-08		179360222	63839151	2	7680											
ADPRH	141	broad.mit.edu	37	chr3	119305355	119305355	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctacctgggggcccttgcGtctgctctttttacagccta	11	13	2	0			TCGA-ET-A2N3-01B-21D-A23M-08	TCGA-ET-A2N3-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcfcc7e4-b937-4f55-a703-e73a783d1fc1	27ec3857-71ae-4f7d-944d-112b47b0b97d	g.chr3:119305355G>A	ENST00000478399.1	+	3	1927	c.522G>A	c.(520-522)gcG>gcA	p.A174A	ADPRH_ENST00000465513.1_Silent_p.A174A|ADPRH_ENST00000478927.1_Silent_p.A174A|ADPRH_ENST00000357003.3_Silent_p.A174A|ADPRH_ENST00000471850.1_3'UTR			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	174					cellular protein modification process (GO:0006464)|protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		GGGCCCTTGCGTCTGCTCTTT	0.537																																					GBM(133;579 1804 5989 9967 40052)	ENST00000478399.1																			0				breast(1)|kidney(1)|lung(10)|ovary(1)	13						c.(520-522)gcG>gcA		ADP-ribosylarginine hydrolase							124	127	126					3																	119305355		2203	4300	6503	SO:0001819	synonymous_variant	141				protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	g.chr3:119305355G>A	L13291	CCDS2990.1	3q13.31-q13.33	2004-02-27			ENSG00000144843	ENSG00000144843			269	protein-coding gene	gene with protein product		603081				8349667, 12070318	Standard	NM_001125		Approved	ARH1	uc003ecs.3	P54922	OTTHUMG00000159420	ENST00000478399.1:c.522G>A	3.37:g.119305355G>A						ADPRH_ENST00000478927.1_Silent_p.A174A|ADPRH_ENST00000465513.1_Silent_p.A174A|ADPRH_ENST00000357003.3_Silent_p.A174A|ADPRH_ENST00000471850.1_3'UTR	p.A174A			P54922	ADPRH_HUMAN		GBM - Glioblastoma multiforme(114;0.23)	3	1927	+		Lung NSC(201;0.0977)	174					B2R8H1|D3DN83	Silent	SNP	ENST00000478399.1	37	c.522G>A	CCDS2990.1																																																																																				0.537	ADPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355199.1	NM_001125		26	218	0	0	0	1	0	26	218					A	119305355	G	A	119305355	2	1	363	1	0	0	0	0	0	0	0	1	331	1132	40	1		1	ADPRH	3	119305355	Silent	SNP	G	TCGA-ET-A2N3-01B-21D-A23M-08		119305355	78717075	3	7681											
ESYT2	57488	broad.mit.edu	37	chr7	158527136	158527136	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgggtccagcctttggcaagTtcttcagatgccagagcaac	11	11	2	2			TCGA-ET-A2N3-01B-21D-A23M-08	TCGA-ET-A2N3-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcfcc7e4-b937-4f55-a703-e73a783d1fc1	27ec3857-71ae-4f7d-944d-112b47b0b97d	g.chr7:158527136T>A	ENST00000251527.5	-	21	2678	c.2613A>T	c.(2611-2613)gaA>gaT	p.E871D	ESYT2_ENST00000435514.2_Missense_Mutation_p.E306D	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	899	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						CTTTGGCAAGTTCTTCAGATG	0.547																																						ENST00000251527.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						c.(2611-2613)gaA>gaT		extended synaptotagmin-like protein 2							73	69	71					7																	158527136		2203	4300	6503	SO:0001583	missense	57488					integral to membrane|plasma membrane		g.chr7:158527136T>A	AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"Synaptotagmins"	22211	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member B"	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.2613A>T	7.37:g.158527136T>A	ENSP00000251527:p.Glu871Asp					ESYT2_ENST00000435514.2_Missense_Mutation_p.E306D	p.E871D	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN			21	2678	-			899			C2 3.		A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Missense_Mutation	SNP	ENST00000251527.5	37	c.2613A>T	CCDS34791.1	.	.	.	.	.	.	.	.	.	.	T	7.578	0.668137	0.14710	.	.	ENSG00000117868	ENST00000251527;ENST00000421679;ENST00000275418;ENST00000435514	T;T;T	0.06768	3.26;3.26;3.26	5.69	-10.4	0.00318	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.238434	0.43919	N	0.000505	T	0.01592	0.0051	N	0.03608	-0.345	0.25376	N	0.988659	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35051	-0.9804	10	0.02654	T	1	-16.1671	4.8535	0.13549	0.0958:0.4081:0.0886:0.4075	.	871;899	A0FGR8-2;A0FGR8	.;ESYT2_HUMAN	D	871;920;862;306	ENSP00000251527:E871D;ENSP00000275418:E862D;ENSP00000411488:E306D	ENSP00000251527:E871D	E	-	3	2	ESYT2	158219897	0.198000	0.23374	0.610000	0.28997	0.993000	0.82548	-0.820000	0.04457	-1.367000	0.02152	0.482000	0.46254	GAA		0.547	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322647.1	NM_020728		25	52	0	0	0	1	0	25	52					A	158527136	T	A	158527136	3	1	363	1	0	0	0	0	1	0	0	0	5265	1722	60	5	76	5	ESYT2	7	158527136	Missense_Mutation	SNP	T	TCGA-ET-A2N3-01B-21D-A23M-08		158527136	611527	4	7682											
DCAF4L2	138009	broad.mit.edu	37	chr8	88886182	88886182	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcttcctcgagcagtcgCggtcttttgctctccatttc	8	14	3	0			TCGA-ET-A2N3-01B-21D-A23M-08	TCGA-ET-A2N3-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcfcc7e4-b937-4f55-a703-e73a783d1fc1	27ec3857-71ae-4f7d-944d-112b47b0b97d	g.chr8:88886182C>T	ENST00000319675.3	-	1	114	c.18G>A	c.(16-18)ccG>ccA	p.P6P		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	6										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CGAGCAGTCGCGGTCTTTTGC	0.517																																						ENST00000319675.3																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						c.(16-18)ccG>ccA		DDB1 and CUL4 associated factor 4-like 2							45	45	45					8																	88886182		2203	4300	6503	SO:0001819	synonymous_variant	138009							g.chr8:88886182C>T	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"WD repeat domain containing"	26657	protein-coding gene	gene with protein product			"WD repeat domain 21C"	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.18G>A	8.37:g.88886182C>T							p.P6P	NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN			1	114	-			6						Silent	SNP	ENST00000319675.3	37	c.18G>A	CCDS6245.1																																																																																				0.517	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		24	25	0	0	0	1	0	24	25					T	88886182	C	T	88886182	2	4	363	1	0	0	0	0	0	0	0	1	4272	755	27	1		1	DCAF4L2	8	88886182	Silent	SNP	C	TCGA-ET-A2N3-01B-21D-A23M-08		88886182	57477840	5	7683											
SLC31A2	1318	broad.mit.edu	37	chr9	115923922	115923922	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agccagcagaccatcgcagaGacagacggggactctgcagg	14	12	1	3			TCGA-ET-A2N3-01B-21D-A23M-08	TCGA-ET-A2N3-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcfcc7e4-b937-4f55-a703-e73a783d1fc1	27ec3857-71ae-4f7d-944d-112b47b0b97d	g.chr9:115923922G>C	ENST00000259392.3	+	3	340	c.207G>C	c.(205-207)gaG>gaC	p.E69D		NM_001860.2	NP_001851.1	O15432	COPT2_HUMAN	solute carrier family 31 (copper transporter), member 2	69					cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|regulation of copper ion transmembrane transport (GO:1902311)	integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|recycling endosome (GO:0055037)	copper ion transmembrane transporter activity (GO:0005375)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	7					Carboplatin(DB00958)|Cisplatin(DB00515)	CCATCGCAGAGACAGACGGGG	0.552																																						ENST00000259392.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	7						c.(205-207)gaG>gaC		solute carrier family 31 (copper transporter), member 2							102	103	103					9																	115923922		2087	4219	6306	SO:0001583	missense	1318					integral to plasma membrane	copper ion transmembrane transporter activity	g.chr9:115923922G>C		CCDS6788.1	9q32	2013-07-17	2013-07-17		ENSG00000136867	ENSG00000136867		"Solute carriers"	11017	protein-coding gene	gene with protein product	"copper transporter 2"	603088		COPT2		9207117	Standard	NM_001860		Approved	hCTR2, CTR2	uc004bgq.3	O15432	OTTHUMG00000021037	ENST00000259392.3:c.207G>C	9.37:g.115923922G>C	ENSP00000259392:p.Glu69Asp						p.E69D	NM_001860.2	NP_001851.1	O15432	COPT2_HUMAN			3	340	+			69						Missense_Mutation	SNP	ENST00000259392.3	37	c.207G>C	CCDS6788.1	.	.	.	.	.	.	.	.	.	.	G	1.883	-0.457409	0.04508	.	.	ENSG00000136867	ENST00000259392	T	0.76839	-1.05	5.46	-2.6	0.06190	.	1.244220	0.05253	N	0.514289	T	0.55065	0.1897	N	0.17872	0.535	0.09310	N	1	B;B	0.15719	0.014;0.007	B;B	0.14023	0.007;0.01	T	0.32161	-0.9917	10	0.13470	T	0.59	-0.8776	0.3488	0.00345	0.3534:0.1312:0.2224:0.293	.	69;69	B4DIE0;O15432	.;COPT2_HUMAN	D	69	ENSP00000259392:E69D	ENSP00000259392:E69D	E	+	3	2	SLC31A2	114963743	0.000000	0.05858	0.004000	0.12327	0.056000	0.15407	-0.249000	0.08842	-0.161000	0.10983	0.655000	0.94253	GAG		0.552	SLC31A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055509.2	NM_001860		34	64	0	0	0	1	0	34	64					C	115923922	G	C	115923922	3	2	363	1	0	0	0	0	1	0	0	0	14564	933	33	4	217	4	SLC31A2	9	115923922	Missense_Mutation	SNP	G	TCGA-ET-A2N3-01B-21D-A23M-08		115923922	25289509	6	7684											
OLFM1	10439	broad.mit.edu	37	chr9	137982159	137982159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtgttcacgggatgcccGcacaaaacagctgaggcagc	12	12	1	1			TCGA-ET-A2N3-01B-21D-A23M-08	TCGA-ET-A2N3-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcfcc7e4-b937-4f55-a703-e73a783d1fc1	27ec3857-71ae-4f7d-944d-112b47b0b97d	g.chr9:137982159G>A	ENST00000371793.3	+	2	520	c.269G>A	c.(268-270)cGc>cAc	p.R90H	OLFM1_ENST00000277415.11_Missense_Mutation_p.R72H|OLFM1_ENST00000392991.4_Missense_Mutation_p.R90H|OLFM1_ENST00000371796.3_Missense_Mutation_p.R63H|OLFM1_ENST00000252854.4_Missense_Mutation_p.R72H	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	90					negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CGGGATGCCCGCACAAAACAG	0.557																																						ENST00000252854.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21						c.(214-216)cGc>cAc		olfactomedin 1							107	80	89					9																	137982159		2203	4300	6503	SO:0001583	missense	10439				nervous system development	endoplasmic reticulum lumen	protein binding	g.chr9:137982159G>A	AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"pancortin"	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.269G>A	9.37:g.137982159G>A	ENSP00000360858:p.Arg90His					OLFM1_ENST00000392991.4_Missense_Mutation_p.R90H|OLFM1_ENST00000371793.3_Missense_Mutation_p.R90H|OLFM1_ENST00000371796.3_Missense_Mutation_p.R63H|OLFM1_ENST00000277415.11_Missense_Mutation_p.R72H	p.R72H	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)	2	402	+		Myeloproliferative disorder(178;0.0333)	90					Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Missense_Mutation	SNP	ENST00000371793.3	37	c.215G>A		.	.	.	.	.	.	.	.	.	.	G	20.7	4.040594	0.75732	.	.	ENSG00000130558	ENST00000277415;ENST00000252854;ENST00000339720;ENST00000371796;ENST00000539529;ENST00000392991;ENST00000371793	T;T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48;0.48	4.75	4.75	0.60458	.	0.048862	0.64402	N	0.000001	T	0.45558	0.1348	L	0.41824	1.3	0.80722	D	1	B;P;B;B	0.34892	0.094;0.474;0.067;0.385	B;B;B;B	0.29524	0.037;0.075;0.103;0.101	T	0.53676	-0.8405	10	0.87932	D	0	.	18.1101	0.89533	0.0:0.0:1.0:0.0	.	90;90;72;72	Q99784;Q99784-2;Q6IMJ8;Q6IMJ7	NOE1_HUMAN;.;.;.	H	72;72;79;63;7;90;90	ENSP00000277415:R72H;ENSP00000252854:R72H;ENSP00000340318:R79H;ENSP00000360861:R63H;ENSP00000444296:R7H;ENSP00000376717:R90H;ENSP00000360858:R90H	ENSP00000252854:R72H	R	+	2	0	OLFM1	137121980	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.691000	0.84191	2.309000	0.77851	0.655000	0.94253	CGC		0.557	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1	NM_014279		20	29	0	0	0	1	0	20	29					A	137982159	G	A	137982159	3	1	363	1	0	0	0	0	1	0	0	0	10852	1087	38	1	221	1	OLFM1	9	137982159	Missense_Mutation	SNP	G	TCGA-ET-A2N3-01B-21D-A23M-08	22058237	137982159	3231272	7	7685											
DSCAML1	57453	broad.mit.edu	37	chr11	117375679	117375679	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttgggtggggggtagccGtccaccgagcagttgagcac	16	11	0	1	rs139385882	byFrequency	TCGA-ET-A2N3-01B-21D-A23M-08	TCGA-ET-A2N3-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcfcc7e4-b937-4f55-a703-e73a783d1fc1	27ec3857-71ae-4f7d-944d-112b47b0b97d	g.chr11:117375679G>A	ENST00000321322.6	-	10	2323	c.2322C>T	c.(2320-2322)gaC>gaT	p.D774D	DSCAML1_ENST00000527706.1_Silent_p.D504D	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	714	Ig-like C2-type 8.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGGGGTAGCCGTCCACCGAGC	0.597													g|||	2	0.000399361	0.0015	0	5008	,	,		17716	0		0	False		,,,				2504	0					ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(2320-2322)gaC>gaT		Down syndrome cell adhesion molecule like 1		A		0,4402		0,0,2201	87	76	80		2322	-8.1	0.6	11	dbSNP_134	80	4,8588	3.7+/-12.6	0,4,4292	no	coding-synonymous	DSCAML1	NM_020693.2		0,4,6493	AA,AG,GG		0.0466,0.0,0.0308		774/2114	117375679	4,12990	2201	4296	6497	SO:0001819	synonymous_variant	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117375679G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.2322C>T	11.37:g.117375679G>A						DSCAML1_ENST00000527706.1_Silent_p.D504D	p.D774D	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	10	2323	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	714			Ig-like C2-type 8.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	c.2322C>T	CCDS8384.1																																																																																				0.597	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		29	49	0	0	0	1	0	29	49					A	117375679	G	A	117375679	2	1	363	1	0	0	0	0	0	0	0	1	4769	1136	40	1		1	DSCAML1	11	117375679	Silent	SNP	G	TCGA-ET-A2N3-01B-21D-A23M-08		117375679	17630837	8	7686											
GCAT	23464	broad.mit.edu	37	chr22	38211250	38211251	+	Frame_Shift_Ins	INS	-	-	A													tgccctggtcttcatggatgINSaatgccatgccactggcttc							TCGA-ET-A2N3-01B-21D-A23M-08	TCGA-ET-A2N3-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcfcc7e4-b937-4f55-a703-e73a783d1fc1	27ec3857-71ae-4f7d-944d-112b47b0b97d	g.chr22:38211250_38211251insA	ENST00000248924.6	+	5	750_751	c.694_695insA	c.(694-696)gaafs	p.E232fs	GCAT_ENST00000323205.6_Frame_Shift_Ins_p.E258fs	NM_014291.3	NP_055106.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	232					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|L-threonine catabolic process to glycine (GO:0019518)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	glycine C-acetyltransferase activity (GO:0008890)|pyridoxal phosphate binding (GO:0030170)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)	CTTCATGGATGAATGCCATGCC	0.629																																						ENST00000323205.6																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12						c.(772-774)atgfs		glycine C-acetyltransferase	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)																																			SO:0001589	frameshift_variant	23464				biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr22:38211250_38211251insA	AF077740	CCDS13957.1, CCDS54527.1	22q13.1	2010-01-19	2010-01-19		ENSG00000100116	ENSG00000100116	2.3.1.29		4188	protein-coding gene	gene with protein product	"2-amino-3-ketobutyrate coenzyme A ligase"	607422	"glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase)"				Standard	NM_014291		Approved	KBL	uc003aua.2	O75600	OTTHUMG00000150664	ENST00000248924.6:c.696dupA	22.37:g.38211252_38211252dupA	ENSP00000248924:p.Glu232fs					GCAT_ENST00000248924.6_Frame_Shift_Ins_p.M232fs	p.M258fs	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN			5	835_836	+	Melanoma(58;0.045)		232					E2QC23|Q6ZWF1|Q96CA9	Frame_Shift_Ins	INS	ENST00000248924.6	37	c.772_773insA	CCDS13957.1																																																																																				0.629	GCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319506.1	NM_014291.2		21	15						21	15	---	---	---	---	A	38211251	-	A	38211250	7	5	363	1	0	1	1	0	0	0	0	0	6284	1291	45	0	790	0	GCAT	22	38211250	Frame_Shift_Ins	INS	-	TCGA-ET-A2N3-01B-21D-A23M-08		38211250	13093316	9	7687											
PIK3CD	5293	broad.mit.edu	37	chr1	9783218	9783218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctccccaccggggaccGcacaggcctcattgaggtgg	13	16	1	1	rs573872848		TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr1:9783218G>A	ENST00000377346.4	+	20	2657	c.2462G>A	c.(2461-2463)cGc>cAc	p.R821H	PIK3CD_ENST00000536656.1_Missense_Mutation_p.R845H|PIK3CD_ENST00000361110.2_Missense_Mutation_p.R845H	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	821	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				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)	p.R821H(1)		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)	ACCGGGGACCGCACAGGCCTC	0.602													G|||	1	0.000199681	8e-04	0	5008	,	,		18134	0		0	False		,,,				2504	0					ENST00000536656.1																			1	Substitution - Missense(1)	p.R821H(1)	endometrium(1)	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.(2533-2535)cGc>cAc		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta							142	141	141					1																	9783218		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.chr1:9783218G>A		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.2462G>A	1.37:g.9783218G>A	ENSP00000366563:p.Arg821His					PIK3CD_ENST00000377346.4_Missense_Mutation_p.R821H|PIK3CD_ENST00000361110.2_Missense_Mutation_p.R845H	p.R845H			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)	20	2742	+	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)	821			PI3K/PI4K.		A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	c.2534G>A	CCDS104.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207994	0.39003	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563	T;T;T	0.80653	-1.4;-1.4;-1.4	4.75	0.731	0.18277	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.070648	0.56097	D	0.000021	T	0.68860	0.3047	L	0.35414	1.06	0.80722	D	1	B;B;B	0.19935	0.04;0.04;0.004	B;B;B	0.25884	0.064;0.014;0.008	T	0.57481	-0.7804	10	0.46703	T	0.11	-14.8148	9.0597	0.36427	0.4652:0.0:0.5348:0.0	.	820;845;821	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	H	845;821;845;845	ENSP00000446444:R845H;ENSP00000366563:R821H;ENSP00000354410:R845H	ENSP00000353766:R845H	R	+	2	0	PIK3CD	9705805	1.000000	0.71417	0.023000	0.16930	0.932000	0.56968	1.800000	0.38833	-0.131000	0.11578	0.563000	0.77884	CGC		0.602	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		5	398	0	0	0	1	0	5	398					A	9783218	G	A	9783218	3	1	364	1	0	0	0	0	1	0	0	0	11915	1087	38	1	2532	1	PIK3CD	1	9783218	Missense_Mutation	SNP	G	TCGA-ET-A2N4-01A-12D-A19J-08		9783218	239467403	1	7688											
SLC6A9	6536	broad.mit.edu	37	chr1	44489938	44489938	+	Frame_Shift_Del	DEL	T	T	-													accagcatccctttggcaccTtttcctaccatggcggcggt					rs201148088		TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr1:44489938delT	ENST00000372310.3	-	2	177	c.12delA	c.(10-12)aaafs	p.K4fs	SLC6A9_ENST00000475075.2_5'UTR|SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000537678.1_5'UTR	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	335					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CTTTGGCACCTTTTCCTACCA	0.627																																						ENST00000372310.3																			0				endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22						c.(10-12)aafs		solute carrier family 6 (neurotransmitter transporter, glycine), member 9	Glycine(DB00145)						231	218	222					1																	44489938		2203	4300	6503	SO:0001589	frameshift_variant	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44489938delT	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"Solute carriers"	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000372310.3:c.12delA	1.37:g.44489938delT	ENSP00000361384:p.Lys4fs					SLC6A9_ENST00000475075.2_5'UTR|SLC6A9_ENST00000537678.1_5'UTR|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs	p.K4fs	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN			2	177	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	335					A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Frame_Shift_Del	DEL	ENST00000372310.3	37	c.12delA	CCDS30695.1																																																																																				0.627	SLC6A9-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022827.1	NM_201649		8	657						8	657	---	---	---	---	-	44489938	T	-	44489938	7	5	364	1	0	1	0	1	0	0	0	0	14691	1606	56	0	2198	0	SLC6A9	1	44489938	Frame_Shift_Del	DEL	T	TCGA-ET-A2N4-01A-12D-A19J-08	34706720	44489938	204760683	2	7689											
PRDX1	5052	broad.mit.edu	37	chr1	45984618	45984618	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taattctctcacctttgtagTcagacaggctgatatcttta	6	9	4	2			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr1:45984618T>C	ENST00000262746.1	-	2	437	c.98A>G	c.(97-99)gAc>gGc	p.D33G	PRDX1_ENST00000483583.1_5'UTR|PRDX1_ENST00000372079.1_Intron|PRDX1_ENST00000319248.8_Missense_Mutation_p.D33G	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1	33	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell proliferation (GO:0008283)|erythrocyte homeostasis (GO:0034101)|hydrogen peroxide catabolic process (GO:0042744)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of NF-kappaB import into nucleus (GO:0042345)|regulation of stress-activated MAPK cascade (GO:0032872)|removal of superoxide radicals (GO:0019430)|retina homeostasis (GO:0001895)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)	heme binding (GO:0020037)|peroxidase activity (GO:0004601)|poly(A) RNA binding (GO:0044822)|thioredoxin peroxidase activity (GO:0008379)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					ACCTTTGTAGTCAGACAGGCT	0.413																																						ENST00000262746.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12						c.(97-99)gAc>gGc		peroxiredoxin 1							82	81	81					1																	45984618		2203	4300	6503	SO:0001583	missense	5052				cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development	melanosome|mitochondrion|nucleus	protein binding|thioredoxin peroxidase activity	g.chr1:45984618T>C	BC021683	CCDS522.1	1p34.1	2008-02-05			ENSG00000117450	ENSG00000117450			9352	protein-coding gene	gene with protein product		176763		PAGA		8496166	Standard	NM_181697		Approved	NKEFA	uc021omw.1	Q06830	OTTHUMG00000007738	ENST00000262746.1:c.98A>G	1.37:g.45984618T>C	ENSP00000262746:p.Asp33Gly					PRDX1_ENST00000319248.8_Missense_Mutation_p.D33G|PRDX1_ENST00000483583.1_5'UTR|PRDX1_ENST00000372079.1_Intron	p.D33G	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN			2	437	-	Acute lymphoblastic leukemia(166;0.155)		33			Thioredoxin.		B5BU26|D3DPZ8|P35703|Q2V576|Q5T154|Q5T155	Missense_Mutation	SNP	ENST00000262746.1	37	c.98A>G	CCDS522.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.183679	0.57800	.	.	ENSG00000117450	ENST00000262746;ENST00000319248;ENST00000447184;ENST00000424390	T;T;T;T	0.38722	1.12;1.12;1.12;1.12	5.67	5.67	0.87782	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (3);	0.217265	0.53938	D	0.000053	T	0.67887	0.2941	H	0.95328	3.655	0.58432	D	0.999999	P	0.39862	0.692	P	0.48141	0.568	T	0.77225	-0.2666	10	0.87932	D	0	-10.2806	16.2002	0.82067	0.0:0.0:0.0:1.0	rs11544939	33	Q06830	PRDX1_HUMAN	G	33	ENSP00000262746:D33G;ENSP00000361152:D33G;ENSP00000407034:D33G;ENSP00000389047:D33G	ENSP00000262746:D33G	D	-	2	0	PRDX1	45757205	1.000000	0.71417	1.000000	0.80357	0.345000	0.29048	4.678000	0.61641	2.285000	0.76669	0.528000	0.53228	GAC		0.413	PRDX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020845.1	NM_181697		6	89	0	0	0	1	0	6	89					C	45984618	T	C	45984618	3	2	364	1	0	0	0	0	1	0	0	0	12464	1667	58	3	521	3	PRDX1	1	45984618	Missense_Mutation	SNP	T	TCGA-ET-A2N4-01A-12D-A19J-08	1494680	45984618	203266003	3	7690											
CGN	57530	broad.mit.edu	37	chr1	151491695	151491695	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagcgccagtccaccaacCactggacctctagcacaaaa	9	15	1	0			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr1:151491695C>T	ENST00000271636.7	+	2	833	c.700C>T	c.(700-702)Cac>Tac	p.H234Y		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	228	Head.|Interacts with ZO-2.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GTCCACCAACCACTGGACCTC	0.587																																						ENST00000271636.7																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(700-702)Cac>Tac		cingulin							89	93	92					1																	151491695		2203	4300	6503	SO:0001583	missense	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151491695C>T	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.700C>T	1.37:g.151491695C>T	ENSP00000271636:p.His234Tyr						p.H234Y	NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	833	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		228			Head.|Interacts with ZO-2.		A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	37	c.700C>T	CCDS999.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.890447	0.33348	.	.	ENSG00000143375	ENST00000427934;ENST00000271636	T;T	0.63744	0.92;-0.06	4.96	3.04	0.35103	.	0.561259	0.20537	N	0.090392	T	0.29716	0.0742	L	0.51422	1.61	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09079	-1.0691	9	.	.	.	-4.1539	5.1662	0.15086	0.1432:0.6148:0.1588:0.0832	.	228	Q9P2M7	CING_HUMAN	Y	234	ENSP00000410836:H234Y;ENSP00000271636:H234Y	.	H	+	1	0	CGN	149758319	0.082000	0.21442	0.010000	0.14722	0.012000	0.07955	0.846000	0.27682	1.416000	0.47057	0.561000	0.74099	CAC		0.587	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		89	176	0	0	0	1	0	89	176					T	151491695	C	T	151491695	3	4	364	1	0	0	0	0	1	0	0	0	3303	594	21	2	702	2	CGN	1	151491695	Missense_Mutation	SNP	C	TCGA-ET-A2N4-01A-12D-A19J-08	105507077	151491695	97758926	4	7691											
FLG2	388698	broad.mit.edu	37	chr1	152327955	152327955	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaactgtgttggccataGctagactgacctgatctaga	10	10	1	5			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr1:152327955G>A	ENST00000388718.5	-	3	2379	c.2307C>T	c.(2305-2307)agC>agT	p.S769S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	769	Ser-rich.				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)	p.S769S(1)		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)			GTTGGCCATAGCTAGACTGAC	0.517																																						ENST00000388718.5																			1	Substitution - coding silent(1)	p.S769S(1)	kidney(1)	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.(2305-2307)agC>agT		filaggrin family member 2							412	337	362					1																	152327955		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152327955G>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.2307C>T	1.37:g.152327955G>A						FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.S769S	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2379	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		769			Ser-rich.		Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.2307C>T	CCDS30861.1																																																																																				0.517	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		8	690	0	0	0	1	0	8	690					A	152327955	G	A	152327955	2	1	364	1	0	0	0	0	0	0	0	1	5923	962	34	2		2	FLG2	1	152327955	Silent	SNP	G	TCGA-ET-A2N4-01A-12D-A19J-08	836260	152327955	96922666	5	7692											
GON4L	54856	broad.mit.edu	37	chr1	155734928	155734928	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcctccagtttctggcccaaCtggagtccccactgactgac	8	16	1	2			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr1:155734928C>G	ENST00000368331.1	-	21	4384	c.4336G>C	c.(4336-4338)Gtt>Ctt	p.V1446L	GON4L_ENST00000361040.5_Missense_Mutation_p.V1446L|GON4L_ENST00000437809.1_Missense_Mutation_p.V1446L|GON4L_ENST00000271883.5_Missense_Mutation_p.V1446L|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)	1446					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)					TCTGGCCCAACTGGAGTCCCC	0.502																																						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.(4336-4338)Gtt>Ctt		gon-4-like (C. elegans)							118	124	122					1																	155734928		2203	4300	6503	SO:0001583	missense	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155734928C>G	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.4336G>C	1.37:g.155734928C>G	ENSP00000357315:p.Val1446Leu					GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000271883.5_Missense_Mutation_p.V1446L|GON4L_ENST00000368331.1_Missense_Mutation_p.V1446L|GON4L_ENST00000361040.5_Missense_Mutation_p.V1446L	p.V1446L			Q3T8J9	GON4L_HUMAN			21	4458	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		1446					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37	c.4336G>C		.	.	.	.	.	.	.	.	.	.	C	7.683	0.689485	0.14973	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000361040	T;T;T;T	0.12361	2.9;2.9;2.9;2.69	5.24	3.34	0.38264	.	0.158827	0.43747	D	0.000539	T	0.02156	0.0067	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.001	T	0.41413	-0.9510	10	0.54805	T	0.06	.	8.3315	0.32189	0.1543:0.7669:0.0:0.0789	.	1446;642;1446;1446	Q3T8J9-2;Q1ED43;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	L	1446	ENSP00000396117:V1446L;ENSP00000357315:V1446L;ENSP00000271883:V1446L;ENSP00000354322:V1446L	ENSP00000271883:V1446L	V	-	1	0	GON4L	154001552	0.950000	0.32346	0.005000	0.12908	0.005000	0.04900	5.418000	0.66429	0.780000	0.33566	-0.141000	0.14075	GTT		0.502	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		22	232	0	0	0	1	0	22	232					G	155734928	C	G	155734928	3	3	364	1	0	0	0	0	1	0	0	0	6572	565	20	4	2551	4	GON4L	1	155734928	Missense_Mutation	SNP	C	TCGA-ET-A2N4-01A-12D-A19J-08	3406973	155734928	93515693	6	7693											
ATP1A2	477	broad.mit.edu	37	chr1	160094203	160094203	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgacctccggatcatcTcttctcatggctgtaaggtg	10	12	3	1			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr1:160094203T>A	ENST00000361216.3	+	6	702	c.613T>A	c.(613-615)Tct>Act	p.S205T	ATP1A2_ENST00000392233.3_Missense_Mutation_p.S205T	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	205					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CCGGATCATCTCTTCTCATGG	0.562																																						ENST00000361216.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(613-615)Tct>Act		ATPase, Na+/K+ transporting, alpha 2 polypeptide							96	75	82					1																	160094203		2203	4300	6503	SO:0001583	missense	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160094203T>A	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"ATPases / P-type"	800	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-2", "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2"	182340	"migraine, hemiplegic 2", "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.613T>A	1.37:g.160094203T>A	ENSP00000354490:p.Ser205Thr					ATP1A2_ENST00000392233.3_Missense_Mutation_p.S205T|ATP1A2_ENST00000472488.1_3'UTR	p.S205T	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		6	702	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		205					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	c.613T>A	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	T	16.32	3.091287	0.55968	.	.	ENSG00000018625	ENST00000538123;ENST00000361216;ENST00000392233	D;D	0.91237	-2.81;-2.81	5.27	5.27	0.74061	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.172944	0.52532	D	0.000067	T	0.77025	0.4070	N	0.21194	0.64	0.41343	D	0.987315	B;B	0.22414	0.069;0.021	B;B	0.29524	0.103;0.086	T	0.76429	-0.2962	10	0.46703	T	0.11	.	9.5694	0.39418	0.1568:0.0:0.0:0.8432	.	50;205	B4DHD7;P50993	.;AT1A2_HUMAN	T	50;205;205	ENSP00000354490:S205T;ENSP00000376066:S205T	ENSP00000354490:S205T	S	+	1	0	ATP1A2	158360827	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.023000	0.64084	1.997000	0.58415	0.533000	0.62120	TCT		0.562	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		13	20	0	0	0	1	0	13	20					A	160094203	T	A	160094203	3	1	364	1	0	0	0	0	1	0	0	0	1129	1551	54	5	635	5	ATP1A2	1	160094203	Missense_Mutation	SNP	T	TCGA-ET-A2N4-01A-12D-A19J-08	4359275	160094203	89156418	7	7694											
LY9	4063	broad.mit.edu	37	chr1	160784239	160784239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccagaggaggaacaacgGgggagactgtggtaggggtc	18	8	0	2			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr1:160784239G>A	ENST00000263285.6	+	4	790	c.760G>A	c.(760-762)Ggg>Agg	p.G254R	LY9_ENST00000368040.1_5'UTR|LY9_ENST00000392203.4_Missense_Mutation_p.G254R|LY9_ENST00000341032.4_Missense_Mutation_p.G254R|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368041.2_Missense_Mutation_p.G214R|LY9_ENST00000368037.5_Missense_Mutation_p.G254R			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	254	Ig-like V-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AGGAACAACGGGGGAGACTGT	0.582																																						ENST00000263285.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(760-762)Ggg>Agg		lymphocyte antigen 9							61	64	63					1																	160784239		2203	4300	6503	SO:0001583	missense	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160784239G>A	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.760G>A	1.37:g.160784239G>A	ENSP00000263285:p.Gly254Arg					LY9_ENST00000368040.1_5'UTR|LY9_ENST00000341032.4_Missense_Mutation_p.G254R|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368041.2_Missense_Mutation_p.G214R	p.G254R	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		4	790	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		254			Ig-like V-type 2.		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	ENST00000263285.6	37	c.760G>A	CCDS30916.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.323300	0.24080	.	.	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000263285;ENST00000542780;ENST00000392203;ENST00000368037;ENST00000368036	T;T	0.36699	1.24;1.31	3.76	1.84	0.25277	Immunoglobulin subtype (1);	2.127130	0.02585	N	0.099349	T	0.44350	0.1289	M	0.75447	2.3	0.19300	N	0.999977	D;D;P;D;D;D	0.89917	1.0;1.0;0.94;1.0;1.0;1.0	D;D;B;D;D;D	0.97110	0.999;0.999;0.437;0.999;1.0;0.999	T	0.03483	-1.1032	10	0.59425	D	0.04	-8.5653	6.4283	0.21782	0.2429:0.0:0.7571:0.0	.	254;214;214;254;254;254	B4E0J5;Q5VYH7;Q5VYH9;E7EME5;Q9HBG7-2;Q9HBG7	.;.;.;.;.;LY9_HUMAN	R	254;254;254;254;214;214;156	ENSP00000342921:G254R;ENSP00000263285:G254R	ENSP00000263285:G254R	G	+	1	0	LY9	159050863	0.001000	0.12720	0.003000	0.11579	0.005000	0.04900	0.718000	0.25866	0.327000	0.23409	0.563000	0.77884	GGG		0.582	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		50	92	0	0	0	1	0	50	92					A	160784239	G	A	160784239	3	1	364	1	0	0	0	0	1	0	0	0	9101	1232	43	2	906	2	LY9	1	160784239	Missense_Mutation	SNP	G	TCGA-ET-A2N4-01A-12D-A19J-08	690036	160784239	88466382	8	7695											
CACNA1E	777	broad.mit.edu	37	chr1	181767534	181767534	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccgccaaagccccggccccTcctttcctacagctccctga	6	22	0	1			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr1:181767534T>C	ENST00000367573.2	+	48	6506	c.6506T>C	c.(6505-6507)cTc>cCc	p.L2169P	CACNA1E_ENST00000367567.4_Missense_Mutation_p.L1733P|CACNA1E_ENST00000360108.3_Missense_Mutation_p.L2150P|CACNA1E_ENST00000526775.1_Missense_Mutation_p.L2107P|CACNA1E_ENST00000367570.1_Missense_Mutation_p.L2126P|CACNA1E_ENST00000358338.5_Missense_Mutation_p.L2058P|CACNA1E_ENST00000357570.5_Missense_Mutation_p.L2120P	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2169					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)			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						CCCCGGCCCCTCCTTTCCTAC	0.637																																						ENST00000526775.1																			0				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.(6319-6321)cTc>cCc		calcium channel, voltage-dependent, R type, alpha 1E subunit							71	83	79					1																	181767534		1985	4162	6147	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181767534T>C	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.6506T>C	1.37:g.181767534T>C	ENSP00000356545:p.Leu2169Pro					CACNA1E_ENST00000358338.5_Missense_Mutation_p.L2058P|CACNA1E_ENST00000360108.3_Missense_Mutation_p.L2150P|CACNA1E_ENST00000367573.2_Missense_Mutation_p.L2169P|CACNA1E_ENST00000367570.1_Missense_Mutation_p.L2126P|CACNA1E_ENST00000367567.4_Missense_Mutation_p.L1733P|CACNA1E_ENST00000357570.5_Missense_Mutation_p.L2120P	p.L2107P	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			46	6485	+			2169					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.6320T>C	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	T	13.43	2.236000	0.39498	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96300	-3.9;-3.9;-3.9;-3.9;-3.97;-3.9;-3.9	5.55	5.55	0.83447	.	0.542919	0.20103	N	0.099188	D	0.95749	0.8617	L	0.29908	0.895	0.80722	D	1	B;D	0.60160	0.045;0.987	B;P	0.58391	0.023;0.838	D	0.95078	0.8210	10	0.35671	T	0.21	.	15.432	0.75108	0.0:0.0:0.0:1.0	.	2107;2126	Q15878-2;Q15878-3	.;.	P	2126;2107;2120;2058;1733;2150;2169	ENSP00000356542:L2126P;ENSP00000434814:L2107P;ENSP00000350183:L2120P;ENSP00000351101:L2058P;ENSP00000356539:L1733P;ENSP00000353222:L2150P;ENSP00000356545:L2169P	ENSP00000350183:L2120P	L	+	2	0	CACNA1E	180034157	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.432000	0.59922	2.117000	0.64856	0.456000	0.33151	CTC		0.637	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		4	202	0	0	0	1	0	4	202					C	181767534	T	C	181767534	3	2	364	1	0	0	0	0	1	0	0	0	2542	1551	54	3	6563	3	CACNA1E	1	181767534	Missense_Mutation	SNP	T	TCGA-ET-A2N4-01A-12D-A19J-08	20983295	181767534	67483087	9	7696											
HK2	3099	broad.mit.edu	37	chr2	75081444	75081444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagtatctctaccacatgCgcctctctgatgagaccctc	6	16	2	2	rs567201785		TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr2:75081444C>T	ENST00000290573.2	+	2	688	c.88C>T	c.(88-90)Cgc>Tgc	p.R30C	HK2_ENST00000409174.1_Missense_Mutation_p.R2C	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	30	Hexokinase type-1 1.|Regulatory.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)	p.R30C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CTACCACATGCGCCTCTCTGA	0.488																																						ENST00000290573.2																			1	Substitution - Missense(1)	p.R30C(1)	endometrium(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						c.(88-90)Cgc>Tgc		hexokinase 2							242	252	248					2																	75081444		2203	4300	6503	SO:0001583	missense	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75081444C>T		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.88C>T	2.37:g.75081444C>T	ENSP00000290573:p.Arg30Cys					HK2_ENST00000409174.1_Missense_Mutation_p.R2C	p.R30C	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN			2	688	+			30			Regulatory.		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	c.88C>T	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772471	0.90108	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.98550	-4.99;-4.99	5.13	5.13	0.70059	Hexokinase, N-terminal (1);	0.191170	0.47852	D	0.000216	D	0.98579	0.9525	M	0.80616	2.505	0.80722	D	1	D	0.67145	0.996	P	0.59171	0.853	D	0.98640	1.0675	10	0.48119	T	0.1	-13.6651	16.123	0.81375	0.0:1.0:0.0:0.0	.	30	P52789	HXK2_HUMAN	C	30;30;2	ENSP00000290573:R30C;ENSP00000387140:R2C	ENSP00000290573:R30C	R	+	1	0	HK2	74934952	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.320000	0.79064	2.665000	0.90641	0.561000	0.74099	CGC		0.488	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		5	570	0	0	0	1	0	5	570					T	75081444	C	T	75081444	3	4	364	1	0	0	0	0	1	0	0	0	7191	768	27	1	94	1	HK2	2	75081444	Missense_Mutation	SNP	C	TCGA-ET-A2N4-01A-12D-A19J-08		75081444	168117929	10	7697											
ALPI	248	broad.mit.edu	37	chr2	233321115	233321115	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagctgaggccctggatgctGccaagaagctgcagcccatc	12	14	0	2			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr2:233321115G>T	ENST00000295463.3	+	2	201	c.124G>T	c.(124-126)Gcc>Tcc	p.A42S		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	42					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCTGGATGCTGCCAAGAAGCT	0.632																																						ENST00000295463.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(124-126)Gcc>Tcc		alkaline phosphatase, intestinal							69	69	69					2																	233321115		2203	4300	6503	SO:0001583	missense	248				phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	g.chr2:233321115G>T	M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.124G>T	2.37:g.233321115G>T	ENSP00000295463:p.Ala42Ser						p.A42S	NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)	2	201	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	42					B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Missense_Mutation	SNP	ENST00000295463.3	37	c.124G>T	CCDS2492.1	.	.	.	.	.	.	.	.	.	.	g	10.35	1.325840	0.24080	.	.	ENSG00000163295	ENST00000295463	D	0.96200	-3.94	5.49	4.61	0.57282	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.96119	0.8735	M	0.83953	2.67	0.29821	N	0.830818	B	0.30824	0.296	B	0.44108	0.441	D	0.94236	0.7481	10	0.51188	T	0.08	.	9.3877	0.38354	0.0766:0.0:0.7805:0.1429	.	42	P09923	PPBI_HUMAN	S	42	ENSP00000295463:A42S	ENSP00000295463:A42S	A	+	1	0	ALPI	233029359	0.625000	0.27111	0.688000	0.30117	0.017000	0.09413	1.440000	0.35024	1.464000	0.47987	0.655000	0.94253	GCC		0.632	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2	NM_001631		4	154	1	0	1.024e-07	1	1.04448e-07	4	154					T	233321115	G	T	233321115	3	4	364	1	0	0	0	0	1	0	0	0	543	1319	46	4	130	4	ALPI	2	233321115	Missense_Mutation	SNP	G	TCGA-ET-A2N4-01A-12D-A19J-08	158239671	233321115	9878258	11	7698											
HACL1	26061	broad.mit.edu	37	chr3	15616558	15616558	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaatttagtctggcaccaaAtaacacaattacatcagcaa	4	11	2	0			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr3:15616558A>G	ENST00000321169.5	-	10	1202	c.835T>C	c.(835-837)Ttt>Ctt	p.F279L	HACL1_ENST00000456194.2_Missense_Mutation_p.F252L|HACL1_ENST00000435217.2_Intron|HACL1_ENST00000451445.2_Missense_Mutation_p.F197L|HACL1_ENST00000457447.2_Missense_Mutation_p.F253L	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	279					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carbon-carbon lyase activity (GO:0016830)|cofactor binding (GO:0048037)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|receptor binding (GO:0005102)|thiamine pyrophosphate binding (GO:0030976)			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						CTGGCACCAAATAACACAATT	0.318																																						ENST00000321169.5																			0				NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						c.(835-837)Ttt>Ctt		2-hydroxyacyl-CoA lyase 1							75	74	74					3																	15616558		2203	4300	6503	SO:0001583	missense	26061				fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding	g.chr3:15616558A>G	AJ131753	CCDS2627.1, CCDS68360.1, CCDS68361.1, CCDS68362.1	3p24.3	2009-01-14	2006-05-16	2006-05-16	ENSG00000131373	ENSG00000131373	4.1.-.-		17856	protein-coding gene	gene with protein product		604300	"2-hydroxyphytanoyl-CoA lyase"	HPCL		10468558, 15644336	Standard	NM_001284416		Approved	2-HPCL, PHYH2	uc003caf.3	Q9UJ83	OTTHUMG00000129862	ENST00000321169.5:c.835T>C	3.37:g.15616558A>G	ENSP00000323811:p.Phe279Leu					HACL1_ENST00000457447.2_Missense_Mutation_p.F253L|HACL1_ENST00000451445.2_Missense_Mutation_p.F197L|HACL1_ENST00000456194.2_Missense_Mutation_p.F252L|HACL1_ENST00000435217.2_Intron	p.F279L	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN			10	1202	-			279					B4DWI1|B4DXI5|E9PEN4|Q9BV42|Q9P0A2	Missense_Mutation	SNP	ENST00000321169.5	37	c.835T>C	CCDS2627.1	.	.	.	.	.	.	.	.	.	.	A	6.887	0.533062	0.13188	.	.	ENSG00000131373	ENST00000321169;ENST00000451445;ENST00000456194;ENST00000457447	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	5.5	-3.26	0.05064	Thiamine pyrophosphate enzyme, central domain (1);	0.411949	0.29280	N	0.012604	T	0.05364	0.0142	N	0.00131	-2.04	0.30146	N	0.803535	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.001;0.001;0.001	T	0.39231	-0.9624	10	0.07175	T	0.84	.	15.0661	0.71996	0.2097:0.0:0.7903:0.0	.	197;253;252;279	B4DXI5;E9PEN4;B4DWI1;Q9UJ83	.;.;.;HACL1_HUMAN	L	279;197;252;253	ENSP00000323811:F279L;ENSP00000403656:F197L;ENSP00000390699:F252L;ENSP00000404883:F253L	ENSP00000323811:F279L	F	-	1	0	HACL1	15591562	0.999000	0.42202	0.969000	0.41365	0.988000	0.76386	0.756000	0.26419	-0.501000	0.06605	-0.385000	0.06624	TTT		0.318	HACL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252104.3	NM_012260		12	78	0	0	0	1	0	12	78					G	15616558	A	G	15616558	3	3	364	1	0	0	0	0	1	0	0	0	6941	101	4	3	933	3	HACL1	3	15616558	Missense_Mutation	SNP	A	TCGA-ET-A2N4-01A-12D-A19J-08		15616558	182405872	12	7699											
PHLDB2	90102	broad.mit.edu	37	chr3	111693318	111693318	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcaagactcatgacagaatcTattatatggtagccccatcg	7	10	3	3			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr3:111693318T>A	ENST00000431670.2	+	18	4081	c.3670T>A	c.(3670-3672)Tat>Aat	p.Y1224N	PHLDB2_ENST00000412622.1_Missense_Mutation_p.Y1181N|PHLDB2_ENST00000393925.3_Missense_Mutation_p.Y1224N|PHLDB2_ENST00000481953.1_Missense_Mutation_p.Y1181N|PHLDB2_ENST00000393923.3_Missense_Mutation_p.Y1208N|PHLDB2_ENST00000495180.1_Missense_Mutation_p.Y715N	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1224	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TGACAGAATCTATTATATGGT	0.388																																						ENST00000431670.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(3670-3672)Tat>Aat		pleckstrin homology-like domain, family B, member 2							103	105	105					3																	111693318		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111693318T>A		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"Pleckstrin homology (PH) domain containing"	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.3670T>A	3.37:g.111693318T>A	ENSP00000405405:p.Tyr1224Asn					PHLDB2_ENST00000481953.1_Missense_Mutation_p.Y1181N|PHLDB2_ENST00000495180.1_Missense_Mutation_p.Y715N|PHLDB2_ENST00000393925.3_Missense_Mutation_p.Y1224N|PHLDB2_ENST00000412622.1_Missense_Mutation_p.Y1181N|PHLDB2_ENST00000393923.3_Missense_Mutation_p.Y1208N	p.Y1224N	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN			18	4081	+			1224			PH.		A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.3670T>A	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	T	14.25	2.478339	0.44044	.	.	ENSG00000144824	ENST00000393923;ENST00000431670;ENST00000412622;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17;-1.17	6.17	5.0	0.66597	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.183165	0.49916	D	0.000129	D	0.90463	0.7013	M	0.93939	3.475	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	0.999;0.999;1.0;1.0;1.0	D	0.92053	0.5650	10	0.87932	D	0	.	12.8294	0.57738	0.0:0.0:0.1366:0.8634	.	336;715;1224;1181;1208	Q658P8;E9PGF6;Q86SQ0;Q86SQ0-2;Q86SQ0-3	.;.;PHLB2_HUMAN;.;.	N	1208;1224;1181;1224;1181;715	ENSP00000377500:Y1208N;ENSP00000405405:Y1224N;ENSP00000405292:Y1181N;ENSP00000377502:Y1224N;ENSP00000418319:Y1181N;ENSP00000420303:Y715N	ENSP00000377500:Y1208N	Y	+	1	0	PHLDB2	113176008	1.000000	0.71417	0.998000	0.56505	0.006000	0.05464	8.040000	0.89188	1.132000	0.42129	-0.316000	0.08728	TAT		0.388	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		47	112	0	0	0	1	0	47	112					A	111693318	T	A	111693318	3	1	364	1	0	0	0	0	1	0	0	0	11852	1522	53	5	3821	5	PHLDB2	3	111693318	Missense_Mutation	SNP	T	TCGA-ET-A2N4-01A-12D-A19J-08	96076760	111693318	86329112	13	7700											
PDLIM3	27295	broad.mit.edu	37	chr4	186429465	186429465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catattacctcatcaaaggtGtttcccctagggctgttgaa	8	10	2	1	rs1141102		TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr4:186429465G>A	ENST00000284770.5	-	5	723	c.650C>T	c.(649-651)aCa>aTa	p.T217I	PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Intron	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	217				T -> I (in Ref. 1; AAC16670). {ECO:0000305}.	actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		CATCAAAGGTGTTTCCCCTAG	0.393																																						ENST00000284770.5																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(649-651)aCa>aTa		PDZ and LIM domain 3							135	125	128					4																	186429465		2203	4300	6503	SO:0001583	missense	27295					sarcomere	zinc ion binding	g.chr4:186429465G>A	AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.650C>T	4.37:g.186429465G>A	ENSP00000284770:p.Thr217Ile					PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Intron	p.T217I	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)	5	723	-		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)	217	T -> I (in Ref. 1; AAC16670).				B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Missense_Mutation	SNP	ENST00000284770.5	37	c.650C>T	CCDS3844.1	.	.	.	.	.	.	.	.	.	.	G	9.943	1.218131	0.22373	.	.	ENSG00000154553	ENST00000284770	T	0.35605	1.3	5.95	5.1	0.69264	.	0.607305	0.19354	N	0.116338	T	0.31389	0.0795	L	0.44542	1.39	0.58432	D	0.999999	B	0.15473	0.013	B	0.19391	0.025	T	0.07028	-1.0794	10	0.37606	T	0.19	-0.0933	10.581	0.45255	0.0:0.129:0.6038:0.2672	rs1141102;rs3205111;rs17400979	217	Q53GG5	PDLI3_HUMAN	I	217	ENSP00000284770:T217I	ENSP00000284770:T217I	T	-	2	0	PDLIM3	186666459	0.690000	0.27699	0.369000	0.25952	0.647000	0.38526	1.529000	0.35996	1.495000	0.48549	0.563000	0.77884	ACA		0.393	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360499.2	NM_014476		7	220	0	0	0	1	0	7	220					A	186429465	G	A	186429465	3	1	364	1	0	0	0	0	1	0	0	0	11681	1377	48	2	460	2	PDLIM3	4	186429465	Missense_Mutation	SNP	G	TCGA-ET-A2N4-01A-12D-A19J-08		186429465	4724811	14	7701											
GLCCI1	113263	broad.mit.edu	37	chr7	8126097	8126099	+	In_Frame_Del	DEL	CAG	CAG	-													cctctgtccagcagccatccCagcagcagcagctcctgcag							TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr7:8126097_8126099delCAG	ENST00000223145.5	+	8	2130_2132	c.1573_1575delCAG	c.(1573-1575)cagdel	p.Q528del		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	528	Poly-Gln.					cytoplasm (GO:0005737)				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		GCAGCCATCCCAGCAGCAGCAGC	0.562																																						ENST00000223145.5																			0				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25						c.(1573-1575)del		glucocorticoid induced transcript 1																																				SO:0001651	inframe_deletion	113263							g.chr7:8126097_8126099delCAG	BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.1573_1575delCAG	7.37:g.8126106_8126108delCAG	ENSP00000223145:p.Gln528del						p.Q528del	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)	8	2130_2132	+		Ovarian(82;0.0608)	528			Poly-Gln.		A4D103|Q96FD0	In_Frame_Del	DEL	ENST00000223145.5	37	c.1573_1575delCAG	CCDS34601.1																																																																																				0.562	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324672.1	NM_138426		7	648						7	648	---	---	---	---	-	8126099	CAG	-	8126097	7	5	364	1	0	1	0	1	0	0	0	0	6431	595	21	0	1603	0	GLCCI1	7	8126097	In_Frame_Del	DEL	CAG	TCGA-ET-A2N4-01A-12D-A19J-08		8126097	151012566	15	7702											
POM121	9883	broad.mit.edu	37	chr7	72413486	72413486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaccgggggccgccaagcCggcccttgcccccagctttg	13	19	0	0	rs372474703		TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr7:72413486C>T	ENST00000434423.2	+	11	2954	c.2954C>T	c.(2953-2955)cCg>cTg	p.P985L	POM121_ENST00000358357.3_Missense_Mutation_p.P720L|POM121_ENST00000257622.4_Missense_Mutation_p.P720L|POM121_ENST00000446813.1_Missense_Mutation_p.P720L|POM121_ENST00000395270.1_Missense_Mutation_p.P720L			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	985	Pore side. {ECO:0000255}.				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)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GCCGCCAAGCCGGCCCTTGCC	0.657																																						ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2158-2160)cCg>cTg		POM121 transmembrane nucleoporin		C	LEU/PRO	2,4404		0,2,2201	41	54	50		2159	1.4	0.0	7		50	0,8598		0,0,4299	no	missense	POM121	NM_172020.2	98	0,2,6500	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	720/985	72413486	2,13002	2203	4299	6502	SO:0001583	missense	9883				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.chr7:72413486C>T	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"-"	19702	protein-coding gene	gene with protein product		615753	"POM121 membrane glycoprotein (rat)", "POM121 membrane glycoprotein"			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.2954C>T	7.37:g.72413486C>T	ENSP00000405562:p.Pro985Leu					POM121_ENST00000446813.1_Missense_Mutation_p.P720L|POM121_ENST00000257622.4_Missense_Mutation_p.P720L|POM121_ENST00000358357.3_Missense_Mutation_p.P720L|POM121_ENST00000434423.2_Missense_Mutation_p.P985L	p.P720L	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			14	3200	+		Lung NSC(55;0.163)	985			Pore side (Potential).		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.2159C>T		.	.	.	.	.	.	.	.	.	.	C	4.198	0.035470	0.08148	4.54E-4	0.0	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.09538	2.97;3.04;2.97;3.04;3.22	2.33	1.41	0.22369	.	0.421011	0.17633	N	0.167314	T	0.13200	0.0320	M	0.64676	1.99	0.09310	N	0.999998	D;P	0.55605	0.972;0.95	B;P	0.46885	0.425;0.53	T	0.11060	-1.0603	10	0.36615	T	0.2	.	6.8353	0.23933	0.0:0.8457:0.0:0.1543	.	720;985	A8MXF9;Q96HA1	.;P121A_HUMAN	L	720;720;720;720;985	ENSP00000393020:P720L;ENSP00000257622:P720L;ENSP00000378687:P720L;ENSP00000351124:P720L;ENSP00000405562:P985L	ENSP00000257622:P720L	P	+	2	0	POM121	72051422	0.736000	0.28164	0.017000	0.16124	0.027000	0.11550	2.797000	0.47877	1.309000	0.44985	0.173000	0.16961	CCG		0.657	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			8	171	0	0	0	1	0	8	171					T	72413486	C	T	72413486	3	4	364	1	0	0	0	0	1	0	0	0	12239	652	23	1	2197	1	POM121	7	72413486	Missense_Mutation	SNP	C	TCGA-ET-A2N4-01A-12D-A19J-08	64287389	72413486	86725177	16	7703											
COL1A2	1278	broad.mit.edu	37	chr7	94058709	94058709	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgctgagggcaacagcagGttcacttacactgttcttgt	11	9	2	1			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr7:94058709G>A	ENST00000297268.6	+	51	4392	c.3921G>A	c.(3919-3921)agG>agA	p.R1307R		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1307	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GCAACAGCAGGTTCACTTACA	0.453										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(3919-3921)agG>agA		collagen, type I, alpha 2	Collagenase(DB00048)						116	99	104					7																	94058709		2203	4300	6503	SO:0001819	synonymous_variant	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94058709G>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.3921G>A	7.37:g.94058709G>A		HNSCC(75;0.22)					p.R1307R	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		51	4392	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		1307			Fibrillar collagen NC1.		P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Silent	SNP	ENST00000297268.6	37	c.3921G>A	CCDS34682.1																																																																																				0.453	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		28	51	0	0	0	1	0	28	51					A	94058709	G	A	94058709	2	1	364	1	0	0	0	0	0	0	0	1	3678	1252	44	2		2	COL1A2	7	94058709	Silent	SNP	G	TCGA-ET-A2N4-01A-12D-A19J-08	21645223	94058709	65079954	17	7704											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		63	76	0	0	0	1	0	63	76					T	140453136	A	T	140453136	3	4	364	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A2N4-01A-12D-A19J-08	46394427	140453136	18685527	18	7705											
CHMP7	91782	broad.mit.edu	37	chr8	23115930	23115930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acactgttcaaggcatcctgGaccggatctatgcctcccag	9	14	2	0			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr8:23115930G>A	ENST00000397677.1	+	7	1576	c.928G>A	c.(928-930)Gac>Aac	p.D310N	CHMP7_ENST00000520102.1_3'UTR|CHMP7_ENST00000313219.7_Missense_Mutation_p.D310N	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	310					endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|ESCRT III complex (GO:0000815)	protein transporter activity (GO:0008565)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		AGGCATCCTGGACCGGATCTA	0.572																																						ENST00000397677.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(928-930)Gac>Aac		charged multivesicular body protein 7							245	209	221					8																	23115930		2203	4300	6503	SO:0001583	missense	91782				cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity	g.chr8:23115930G>A	BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457		"Charged multivesicular body proteins"	28439	protein-coding gene	gene with protein product		611130	"CHMP family, member 7"			16856878	Standard	NM_152272		Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.928G>A	8.37:g.23115930G>A	ENSP00000380794:p.Asp310Asn					CHMP7_ENST00000313219.7_Missense_Mutation_p.D310N|CHMP7_ENST00000520102.1_3'UTR	p.D310N	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	7	1576	+		Prostate(55;0.0513)	310					B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	Missense_Mutation	SNP	ENST00000397677.1	37	c.928G>A	CCDS6040.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.539401	0.85917	.	.	ENSG00000147457	ENST00000397677;ENST00000313219	T;T	0.71341	-0.56;-0.56	5.91	5.91	0.95273	.	0.080649	0.85682	D	0.000000	T	0.76521	0.3999	M	0.62723	1.935	0.58432	D	0.999991	D;B	0.56968	0.978;0.008	P;B	0.54590	0.756;0.038	T	0.70680	-0.4805	10	0.13470	T	0.59	-13.2932	16.9982	0.86373	0.0:0.0:1.0:0.0	.	200;310	B3KRZ9;Q8WUX9	.;CHMP7_HUMAN	N	310	ENSP00000380794:D310N;ENSP00000324491:D310N	ENSP00000324491:D310N	D	+	1	0	CHMP7	23171875	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.860000	0.92272	2.801000	0.96364	0.655000	0.94253	GAC		0.572	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254717.1	NM_152272		11	531	0	0	0	1	0	11	531					A	23115930	G	A	23115930	3	1	364	1	0	0	0	0	1	0	0	0	3361	1174	41	2	950	2	CHMP7	8	23115930	Missense_Mutation	SNP	G	TCGA-ET-A2N4-01A-12D-A19J-08		23115930	123248092	19	7706											
TMEM66	51669	broad.mit.edu	37	chr8	29924352	29924353	+	Frame_Shift_Ins	INS	-	-	G													ccaagcctgtccagaaccctINSggtcctgaattttcatatcc							TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr8:29924352_29924353insG	ENST00000256255.6	-	4	1039_1040	c.782_783insC	c.(781-783)ccafs	p.P261fs	TMEM66_ENST00000536273.1_Frame_Shift_Ins_p.P89fs|TMEM66_ENST00000545648.1_Frame_Shift_Ins_p.P89fs	NM_016127.4	NP_057211.4	Q96BY9	SARAF_HUMAN		261					calcium ion transport (GO:0006816)|regulation of store-operated calcium entry (GO:2001256)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		TCCAGAACCCTGGTCCTGAATT	0.401																																						ENST00000256255.6																			0				endometrium(2)|large_intestine(1)|lung(11)	14						c.(781-783)cggfs		transmembrane protein 66																																				SO:0001589	frameshift_variant	51669					integral to membrane		g.chr8:29924352_29924353insG																												ENST00000256255.6:c.783dupC	8.37:g.29924354_29924354dupG	ENSP00000256255:p.Pro261fs					TMEM66_ENST00000536273.1_Frame_Shift_Ins_p.R89fs|TMEM66_ENST00000545648.1_Frame_Shift_Ins_p.R89fs	p.R261fs	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)	4	1039_1040	-			261					B3KQQ4|B7Z9J1|D3DSU7|H9MHJ8|H9MHJ9|Q53HE8|Q9UNZ3|Q9Y683	Frame_Shift_Ins	INS	ENST00000256255.6	37	c.782_783insC	CCDS6074.1																																																																																				0.401	TMEM66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257254.4			8	216						8	216	---	---	---	---	G	29924353	-	G	29924352	7	5	364	1	0	1	1	0	0	0	0	0	16192	1567	55	0	248	0	TMEM66	8	29924352	Frame_Shift_Ins	INS	-	TCGA-ET-A2N4-01A-12D-A19J-08	6808422	29924352	116439670	20	7707											
RP1	6101	broad.mit.edu	37	chr8	55541490	55541490	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agggcagtcatttggctcttCtgaacaggtatctagtagtt	11	7	4	1	rs375430744		TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr8:55541490C>A	ENST00000220676.1	+	4	5196	c.5048C>A	c.(5047-5049)tCt>tAt	p.S1683Y		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1683					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTTGGCTCTTCTGAACAGGTA	0.413																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(5047-5049)tCt>tAt		retinitis pigmentosa 1 (autosomal dominant)							157	160	159					8																	55541490		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55541490C>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5048C>A	8.37:g.55541490C>A	ENSP00000220676:p.Ser1683Tyr						p.S1683Y	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	5196	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1683						Missense_Mutation	SNP	ENST00000220676.1	37	c.5048C>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.037834	0.35989	.	.	ENSG00000104237	ENST00000220676	T	0.24538	1.85	5.67	2.73	0.32206	.	0.000000	0.48767	D	0.000177	T	0.23094	0.0558	M	0.61703	1.905	0.09310	N	1	B	0.18741	0.03	B	0.17098	0.017	T	0.29640	-1.0005	10	0.87932	D	0	.	4.5313	0.12006	0.3034:0.5257:0.0:0.1709	.	1683	P56715	RP1_HUMAN	Y	1683	ENSP00000220676:S1683Y	ENSP00000220676:S1683Y	S	+	2	0	RP1	55704043	0.000000	0.05858	0.229000	0.23960	0.981000	0.71138	-0.181000	0.09740	0.254000	0.21573	0.655000	0.94253	TCT		0.413	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		20	219	1	0	7.41877e-09	1	7.72158e-09	20	219					A	55541490	C	A	55541490	3	1	364	1	0	0	0	0	1	0	0	0	13532	913	32	4	5058	4	RP1	8	55541490	Missense_Mutation	SNP	C	TCGA-ET-A2N4-01A-12D-A19J-08	25617138	55541490	90822532	21	7708											
DCAF13	81034	broad.mit.edu	37	chr8	104427255	104427255	+	5'UTR	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgtggcgacggtcgccccttGtgagcgcaaccccacctccg	12	18	0	1			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr8:104427255G>C	ENST00000297578.4	-	0	77				DCAF13_ENST00000297579.5_Missense_Mutation_p.V13L|SLC25A32_ENST00000543107.1_5'UTR|DCAF13_ENST00000519682.1_5'Flank|DCAF13_ENST00000521971.1_5'Flank|DCAF13_ENST00000521716.1_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)	GTCGCCCCTTGTGAGCGCAAC	0.697																																						ENST00000297579.5																			0				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(37-39)Gtg>Ctg		DDB1 and CUL4 associated factor 13							19	16	17					8																	104427255		2194	4292	6486	SO:0001623	5_prime_UTR_variant	25879				rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex		g.chr8:104427255G>C	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	ENST00000297578.4:c.-90C>G	8.37:g.104427255G>C						SLC25A32_ENST00000297578.4_5'UTR|SLC25A32_ENST00000543107.1_5'UTR	p.V13L	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN			1	314	+			0					Q96JZ6|Q96SU7	Missense_Mutation	SNP	ENST00000297578.4	37	c.37G>C	CCDS6300.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.904625	0.33628	.	.	ENSG00000164934	ENST00000297579	T	0.75589	-0.95	3.86	-7.73	0.01245	.	3.277830	0.01342	U	0.011608	T	0.62380	0.2423	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.55903	-0.8067	7	0.87932	D	0	5.6314	1.7396	0.02949	0.2588:0.0855:0.3414:0.3144	.	.	.	.	L	13	ENSP00000297579:V13L	ENSP00000297579:V13L	V	+	1	0	DCAF13	104496431	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.713000	0.00816	-2.935000	0.00299	-2.520000	0.00184	GTG		0.697	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380290.2	NM_030780		16	19	0	0	0	1	0	16	19					C	104427255	G	C	104427255	1	2	364	0	1	0	0	0	0	0	0	0	4266	1377	48	4		4	DCAF13	8	104427255	5'UTR	SNP	G	TCGA-ET-A2N4-01A-12D-A19J-08	48885765	104427255	41936767	22	7709											
OR4C46	119749	broad.mit.edu	37	chr11	51515327	51515327	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtttgttttgctggggcttAcagagaatccaaagatgcag	12	6	0	2			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr11:51515327A>G	ENST00000328188.1	+	1	46	c.46A>G	c.(46-48)Aca>Gca	p.T16A		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						GCTGGGGCTTACAGAGAATCC	0.343																																						ENST00000328188.1																			0				endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						c.(46-48)Aca>Gca		olfactory receptor, family 4, subfamily C, member 46							148	142	144					11																	51515327		2201	4296	6497	SO:0001583	missense	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515327A>G		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"GPCR / Class A : Olfactory receptors"	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.46A>G	11.37:g.51515327A>G	ENSP00000329056:p.Thr16Ala						p.T16A	NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN			1	46	+			16						Missense_Mutation	SNP	ENST00000328188.1	37	c.46A>G	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	12.69	2.014663	0.35511	.	.	ENSG00000185926	ENST00000328188	T	0.00421	7.46	2.63	-0.182	0.13287	.	0.000000	0.35495	U	0.003161	T	0.00524	0.0017	M	0.76170	2.325	0.09310	N	1	P	0.46706	0.883	P	0.52267	0.694	T	0.49978	-0.8881	10	0.66056	D	0.02	.	1.9323	0.03330	0.5666:0.0:0.1656:0.2678	.	16	A6NHA9	O4C46_HUMAN	A	16	ENSP00000329056:T16A	ENSP00000329056:T16A	T	+	1	0	OR4C46	51371903	0.000000	0.05858	0.010000	0.14722	0.041000	0.13682	0.083000	0.14871	0.270000	0.21984	0.113000	0.15668	ACA		0.343	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		5	188	0	0	0	1	0	5	188					G	51515327	A	G	51515327	3	3	364	1	0	0	0	0	1	0	0	0	11051	391	14	3	48	3	OR4C46	11	51515327	Missense_Mutation	SNP	A	TCGA-ET-A2N4-01A-12D-A19J-08		51515327	83491189	23	7710											
NCAPD3	23310	broad.mit.edu	37	chr11	134080347	134080347	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatacttgattggctacactGcctattcatgaggaataaag	8	7	1	2	rs142896286	byFrequency	TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr11:134080347G>A	ENST00000534548.2	-	4	448	c.384C>T	c.(382-384)ggC>ggT	p.G128G		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	128					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)		TGGCTACACTGCCTATTCATG	0.358													G|||	2	0.000399361	0	0	5008	,	,		19361	0		0.002	False		,,,				2504	0					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.e4-1		non-SMC condensin II complex, subunit D3		G		0,4402		0,0,2201	99	96	97		384	-2.8	1.0	11	dbSNP_134	97	6,8588	5.0+/-18.6	0,6,4291	yes	coding-synonymous-near-splice	NCAPD3	NM_015261.2		0,6,6492	AA,AG,GG		0.0698,0.0,0.0462		128/1499	134080347	6,12990	2201	4297	6498	SO:0001630	splice_region_variant	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134080347G>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.383-1C>T	11.37:g.134080347G>A							p.G128_splice	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)	4	448	-	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)	128					A6NFS2|Q4KMQ9	Splice_Site	SNP	ENST00000534548.2	37	c.382_splice	CCDS31723.1																																																																																				0.358	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261	Silent	50	63	0	0	0	1	0	50	63					A	134080347	G	A	134080347	5	1	364	1	0	0	0	0	0	0	1	0	10206	1333	46	2	4240	2	NCAPD3	11	134080347	Splice_Site	SNP	G	TCGA-ET-A2N4-01A-12D-A19J-08	82565020	134080347	926169	24	7711											
ACACB	32	broad.mit.edu	37	chr12	109614053	109614053	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gagagtgcggaggacttcccGatccttttcagacaagtgag	13	9	1	3			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr12:109614053G>T	ENST00000338432.7	+	9	1541	c.1422G>T	c.(1420-1422)ccG>ccT	p.P474P	ACACB_ENST00000377854.5_Silent_p.P474P|ACACB_ENST00000377848.3_Silent_p.P474P|ACACB_ENST00000543080.1_3'UTR			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	474	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	AGGACTTCCCGATCCTTTTCA	0.478																																						ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(1420-1422)ccG>ccT		acetyl-CoA carboxylase beta	Biotin(DB00121)						183	188	186					12																	109614053		2203	4300	6503	SO:0001819	synonymous_variant	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109614053G>T	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.1422G>T	12.37:g.109614053G>T						ACACB_ENST00000377854.5_Silent_p.P474P|ACACB_ENST00000377848.3_Silent_p.P474P|ACACB_ENST00000543080.1_3'UTR	p.P474P			O00763	ACACB_HUMAN			9	1541	+			474			ATP-grasp.|Biotin carboxylation.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	c.1422G>T	CCDS31898.1																																																																																				0.478	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		169	227	1	0	5.91303e-76	1	6.2826e-76	169	227					T	109614053	G	T	109614053	2	4	364	1	0	0	0	0	0	0	0	1	107	1045	37	4		4	ACACB	12	109614053	Silent	SNP	G	TCGA-ET-A2N4-01A-12D-A19J-08		109614053	24237842	25	7712											
CYSLTR2	57105	broad.mit.edu	37	chr13	49281729	49281729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgatcatcttcttcttgtGtttcctgccctatcacacac	4	14	5	1			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr13:49281729G>A	ENST00000282018.3	+	1	779	c.776G>A	c.(775-777)tGt>tAt	p.C259Y		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	259					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TTCTTCTTGTGTTTCCTGCCC	0.498																																						ENST00000282018.3																			0				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20						c.(775-777)tGt>tAt		cysteinyl leukotriene receptor 2	Nedocromil(DB00716)						140	125	130					13																	49281729		2203	4300	6503	SO:0001583	missense	57105				immune response	integral to membrane|plasma membrane		g.chr13:49281729G>A	AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"GPCR / Class A : Leukotriene receptors"	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.776G>A	13.37:g.49281729G>A	ENSP00000282018:p.Cys259Tyr						p.C259Y	NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN		GBM - Glioblastoma multiforme(99;1.19e-09)	1	779	+		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)	259					Q9HCQ2	Missense_Mutation	SNP	ENST00000282018.3	37	c.776G>A	CCDS9412.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438036	0.83885	.	.	ENSG00000152207	ENST00000282018	T	0.54279	0.58	5.65	5.65	0.86999	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	D	0.82958	0.5150	H	0.97540	4.025	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	D	0.88082	0.2807	10	0.56958	D	0.05	.	18.7244	0.91708	0.0:0.0:1.0:0.0	.	259	Q9NS75	CLTR2_HUMAN	Y	259	ENSP00000282018:C259Y	ENSP00000282018:C259Y	C	+	2	0	CYSLTR2	48179730	1.000000	0.71417	0.998000	0.56505	0.900000	0.52787	9.823000	0.99369	2.678000	0.91216	0.655000	0.94253	TGT		0.498	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1			50	63	0	0	0	1	0	50	63					A	49281729	G	A	49281729	3	1	364	1	0	0	0	0	1	0	0	0	4202	1377	48	2	778	2	CYSLTR2	13	49281729	Missense_Mutation	SNP	G	TCGA-ET-A2N4-01A-12D-A19J-08		49281729	65888149	26	7713											
GPR97	222487	broad.mit.edu	37	chr16	57718006	57718006	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggctgtcttccactacttCctgctctgtgccttcacctg	9	15	3	0	rs368898879		TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr16:57718006C>T	ENST00000333493.4	+	9	1205	c.1044C>T	c.(1042-1044)ttC>ttT	p.F348F	RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000327655.6_Silent_p.F138F|GPR97_ENST00000450388.3_Silent_p.F228F	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	348					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCCACTACTTCCTGCTCTGTG	0.587																																						ENST00000333493.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1042-1044)ttC>ttT		G protein-coupled receptor 97		C		0,4396		0,0,2198	105	101	102		1044	1.0	1.0	16		102	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GPR97	NM_170776.4		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		348/550	57718006	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	222487				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57718006C>T	AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"-", "GPCR / Class B : Orphans"	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.1044C>T	16.37:g.57718006C>T						GPR97_ENST00000327655.6_Silent_p.F138F|RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Silent_p.F228F	p.F348F	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN			9	1205	+			348					Q6ZMF4|Q86SL9|Q8IZF1	Silent	SNP	ENST00000333493.4	37	c.1044C>T	CCDS10786.1																																																																																				0.587	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257333.2	NM_170776		49	118	0	0	0	1	0	49	118					T	57718006	C	T	57718006	2	4	364	1	0	0	0	0	0	0	0	1	6720	854	30	2		2	GPR97	16	57718006	Silent	SNP	C	TCGA-ET-A2N4-01A-12D-A19J-08		57718006	32636747	27	7714											
GLG1	2734	broad.mit.edu	37	chr16	74530417	74530417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaagtcatccgatgacagCtcagccacccggagaatggc	11	12	2	3			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr16:74530417C>T	ENST00000422840.2	-	5	899	c.900G>A	c.(898-900)gaG>gaA	p.E300E	GLG1_ENST00000205061.5_Silent_p.E300E|GLG1_ENST00000447066.2_Silent_p.E289E	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	300					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CCGATGACAGCTCAGCCACCC	0.448																																						ENST00000422840.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						c.(898-900)gaG>gaA		golgi glycoprotein 1							91	95	94					16																	74530417		2198	4300	6498	SO:0001819	synonymous_variant	2734					Golgi membrane|integral to membrane	receptor binding	g.chr16:74530417C>T		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"golgi apparatus protein 1"			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.900G>A	16.37:g.74530417C>T						GLG1_ENST00000205061.5_Silent_p.E300E|GLG1_ENST00000447066.2_Silent_p.E289E	p.E300E	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN			5	899	-			300					B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Silent	SNP	ENST00000422840.2	37	c.900G>A	CCDS45527.1																																																																																				0.448	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		6	123	0	0	0	1	0	6	123					T	74530417	C	T	74530417	2	4	364	1	0	0	0	0	0	0	0	1	6436	796	28	2		2	GLG1	16	74530417	Silent	SNP	C	TCGA-ET-A2N4-01A-12D-A19J-08	16812411	74530417	15824336	28	7715											
VPS53	55275	broad.mit.edu	37	chr17	617889	617889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggccagctgcacctcggGcgtgagctgcagcacggctt	15	13	0	1			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr17:617889G>A	ENST00000571805.1	-	1	197	c.61C>T	c.(61-63)Ccc>Tcc	p.P21S	VPS53_ENST00000574029.1_Missense_Mutation_p.P21S|VPS53_ENST00000291074.5_Missense_Mutation_p.P21S|VPS53_ENST00000437048.2_Missense_Mutation_p.P21S|VPS53_ENST00000401468.3_Missense_Mutation_p.P21S|VPS53_ENST00000446250.2_5'UTR			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	21					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TGCACCTCGGGCGTGAGCTGC	0.711																																						ENST00000437048.2																			0				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19						c.(61-63)Ccc>Tcc		vacuolar protein sorting 53 homolog (S. cerevisiae)							61	63	62					17																	617889		2203	4300	6503	SO:0001583	missense	55275				protein transport	endosome membrane|Golgi apparatus		g.chr17:617889G>A		CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"vacuolar protein sorting 53 (yeast)"			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.61C>T	17.37:g.617889G>A	ENSP00000459312:p.Pro21Ser					VPS53_ENST00000291074.5_Missense_Mutation_p.P21S|VPS53_ENST00000446250.2_5'UTR|VPS53_ENST00000401468.3_Missense_Mutation_p.P21S|VPS53_ENST00000571805.1_Missense_Mutation_p.P21S|VPS53_ENST00000574029.1_Missense_Mutation_p.P21S	p.P21S	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)	1	207	-			21					A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Missense_Mutation	SNP	ENST00000571805.1	37	c.61C>T		.	.	.	.	.	.	.	.	.	.	G	34	5.381303	0.95945	.	.	ENSG00000141252	ENST00000437048;ENST00000291074;ENST00000401468;ENST00000389040	T;T;T;T	0.47528	1.56;1.44;0.84;1.53	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.66218	0.2767	M	0.64404	1.975	0.80722	D	1	D;D;D;D	0.76494	0.993;0.997;0.998;0.999	D;D;D;D	0.72338	0.968;0.963;0.962;0.977	T	0.67692	-0.5605	10	0.59425	D	0.04	-15.7492	16.5629	0.84570	0.0:0.0:1.0:0.0	.	21;21;21;21	E7EVT8;Q5VIR6-4;Q5VIR6;Q5VIR6-2	.;.;VPS53_HUMAN;.	S	21	ENSP00000401435:P21S;ENSP00000291074:P21S;ENSP00000384294:P21S;ENSP00000373692:P21S	ENSP00000291074:P21S	P	-	1	0	VPS53	564639	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.002000	0.88514	2.506000	0.84524	0.591000	0.81541	CCC		0.711	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2	NM_018289		16	212	0	0	0	1	0	16	212					A	617889	G	A	617889	3	1	364	1	0	0	0	0	1	0	0	0	17212	1203	42	2	2540	2	VPS53	17	617889	Missense_Mutation	SNP	G	TCGA-ET-A2N4-01A-12D-A19J-08		617889	80577321	29	7716											
THRA	7067	broad.mit.edu	37	chr17	38240101	38240101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccagggcttctttcgccGcacaatccagaagaacctcc	7	17	1	2			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr17:38240101G>A	ENST00000264637.4	+	5	816	c.236G>A	c.(235-237)cGc>cAc	p.R79H	THRA_ENST00000450525.2_Missense_Mutation_p.R79H|THRA_ENST00000584985.1_Missense_Mutation_p.R79H|THRA_ENST00000394121.4_Missense_Mutation_p.R79H|THRA_ENST00000546243.1_Missense_Mutation_p.R79H	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	79					cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R79H(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TTCTTTCGCCGCACAATCCAG	0.547																																						ENST00000450525.2																			2	Substitution - Missense(2)	p.R79H(2)	kidney(2)	endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11						c.(235-237)cGc>cAc		thyroid hormone receptor, alpha	Levothyroxine(DB00451)|Liothyronine(DB00279)						145	129	134					17																	38240101		2203	4300	6503	SO:0001583	missense	7067				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38240101G>A	J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"Nuclear hormone receptors"	11796	protein-coding gene	gene with protein product		190120	"thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)", "thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.236G>A	17.37:g.38240101G>A	ENSP00000264637:p.Arg79His					THRA_ENST00000584985.1_Missense_Mutation_p.R79H|THRA_ENST00000394121.4_Missense_Mutation_p.R79H|THRA_ENST00000264637.4_Missense_Mutation_p.R79H|THRA_ENST00000546243.1_Missense_Mutation_p.R79H	p.R79H	NM_199334.3	NP_955366.1	P10827	THA_HUMAN			5	727	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	79					A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	ENST00000264637.4	37	c.236G>A	CCDS11360.1	.	.	.	.	.	.	.	.	.	.	G	32	5.125665	0.94429	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	D;D;D;D	0.98987	-5.3;-5.3;-5.3;-5.3	5.31	4.33	0.51752	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.99625	0.9863	H	0.99475	4.585	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.007	D;D;B	0.97110	1.0;1.0;0.007	D	0.97246	0.9894	10	0.87932	D	0	.	14.0146	0.64517	0.0753:0.0:0.9247:0.0	.	79;79;79	P10827-3;P10827;Q6FH41	.;THA_HUMAN;.	H	79	ENSP00000377679:R79H;ENSP00000264637:R79H;ENSP00000395641:R79H;ENSP00000443972:R79H	ENSP00000264637:R79H	R	+	2	0	THRA	35493627	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	7.932000	0.87634	2.477000	0.83638	0.430000	0.28490	CGC		0.547	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2			5	176	0	0	0	1	0	5	176					A	38240101	G	A	38240101	3	1	364	1	0	0	0	0	1	0	0	0	15870	1087	38	1	250	1	THRA	17	38240101	Missense_Mutation	SNP	G	TCGA-ET-A2N4-01A-12D-A19J-08	37622212	38240101	42955109	30	7717											
CYP24A1	1591	broad.mit.edu	37	chr20	52775530	52775530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacaggcttttaaatacgGcatattcctcaaatcttctg	6	10	3	1			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr20:52775530G>A	ENST00000216862.3	-	8	1516	c.1123C>T	c.(1123-1125)Ccg>Tcg	p.P375S	CYP24A1_ENST00000395954.3_Missense_Mutation_p.P233S|CYP24A1_ENST00000395955.3_Missense_Mutation_p.P375S|CYP24A1_ENST00000460643.1_5'Flank	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	375					osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TTTAAATACGGCATATTCCTC	0.388																																						ENST00000216862.3																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1123-1125)Ccg>Tcg		cytochrome P450, family 24, subfamily A, polypeptide 1	Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						128	134	132					20																	52775530		2203	4300	6503	SO:0001583	missense	0				hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	g.chr20:52775530G>A	U60669	CCDS33491.1, CCDS46616.1	20q13.2-q13.3	2003-02-28	2003-02-14	2003-02-28	ENSG00000019186	ENSG00000019186		"Cytochrome P450s"	2602	protein-coding gene	gene with protein product		126065	"cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)"	CYP24			Standard	NM_000782		Approved	CP24, P450-CC24	uc002xwv.2	Q07973	OTTHUMG00000032773	ENST00000216862.3:c.1123C>T	20.37:g.52775530G>A	ENSP00000216862:p.Pro375Ser					CYP24A1_ENST00000395955.3_Missense_Mutation_p.P375S|CYP24A1_ENST00000395954.3_Missense_Mutation_p.P233S	p.P375S	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	STAD - Stomach adenocarcinoma(23;0.206)		8	1516	-	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		375					Q15807|Q32ML3|Q5I2W7	Missense_Mutation	SNP	ENST00000216862.3	37	c.1123C>T	CCDS33491.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.665841	0.67700	.	.	ENSG00000019186	ENST00000216862;ENST00000395955;ENST00000395954	T;T;T	0.74842	-0.88;-0.88;-0.88	5.43	4.48	0.54585	.	0.051522	0.85682	N	0.000000	D	0.84844	0.5562	M	0.74389	2.26	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.977;0.999;0.999	D	0.86075	0.1540	10	0.62326	D	0.03	-14.531	13.1815	0.59657	0.077:0.0:0.923:0.0	.	375;375;233	Q32ML3;Q07973;Q5I2W7	.;CP24A_HUMAN;.	S	375;375;233	ENSP00000216862:P375S;ENSP00000379285:P375S;ENSP00000379284:P233S	ENSP00000216862:P375S	P	-	1	0	CYP24A1	52208937	1.000000	0.71417	0.995000	0.50966	0.606000	0.37113	7.519000	0.81809	1.274000	0.44362	0.650000	0.86243	CCG		0.388	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079769.2			4	206	0	0	0	1	0	4	206					A	52775530	G	A	52775530	3	1	364	1	0	0	0	0	1	0	0	0	4154	1203	42	2	437	2	CYP24A1	20	52775530	Missense_Mutation	SNP	G	TCGA-ET-A2N4-01A-12D-A19J-08		52775530	10249990	31	7718											
SFI1	9814	broad.mit.edu	37	chr22	31927093	31927093	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggattcgaatgacttttggaAgagtatttccctctaaagcc	9	8	1	2			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr22:31927093A>G	ENST00000400288.2	+	4	421	c.316A>G	c.(316-318)Aga>Gga	p.R106G	SFI1_ENST00000443326.1_Intron|SFI1_ENST00000400289.1_Intron|SFI1_ENST00000443011.1_Intron|SFI1_ENST00000432498.1_Missense_Mutation_p.R106G|SFI1_ENST00000414585.1_Intron|SFI1_ENST00000540643.1_Intron	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	106					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						GACTTTTGGAAGAGTATTTCC	0.318																																						ENST00000432498.1																			0				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						c.(316-318)Aga>Gga		Sfi1 homolog, spindle assembly associated (yeast)							112	106	108					22																	31927093		1829	4081	5910	SO:0001583	missense	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:31927093A>G	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 139"	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.316A>G	22.37:g.31927093A>G	ENSP00000383145:p.Arg106Gly					SFI1_ENST00000443011.1_Intron|SFI1_ENST00000443326.1_Intron|SFI1_ENST00000400289.1_Intron|SFI1_ENST00000400288.2_Missense_Mutation_p.R106G|SFI1_ENST00000540643.1_Intron|SFI1_ENST00000414585.1_Intron	p.R106G	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN			4	709	+			106					A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	ENST00000400288.2	37	c.316A>G	CCDS43004.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.988624	0.74589	.	.	ENSG00000198089	ENST00000432498;ENST00000400288;ENST00000450787	T;T;T	0.30981	2.71;2.73;1.51	4.26	4.26	0.50523	.	0.074424	0.51477	D	0.000092	T	0.32315	0.0825	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;0.989	D;D	0.87578	0.998;0.985	T	0.31641	-0.9936	10	0.72032	D	0.01	.	9.9562	0.41668	1.0:0.0:0.0:0.0	.	106;106	A8K8P3-2;A8K8P3	.;SFI1_HUMAN	G	106;106;57	ENSP00000402679:R106G;ENSP00000383145:R106G;ENSP00000389364:R57G	ENSP00000383145:R106G	R	+	1	2	SFI1	30257093	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.310000	0.43708	1.926000	0.55796	0.363000	0.22086	AGA		0.318	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		6	87	0	0	0	1	0	6	87					G	31927093	A	G	31927093	3	3	364	1	0	0	0	0	1	0	0	0	14156	64	3	3	326	3	SFI1	22	31927093	Missense_Mutation	SNP	A	TCGA-ET-A2N4-01A-12D-A19J-08		31927093	19377473	32	7719											
FOXP3	50943	broad.mit.edu	37	chrX	49114015	49114015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgggcgtgggcatccaccGttgagagctggggggcacat	17	11	0	1			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chrX:49114015G>A	ENST00000376207.4	-	4	510	c.323C>T	c.(322-324)aCg>aTg	p.T108M	FOXP3_ENST00000557224.1_Missense_Mutation_p.T73M|FOXP3_ENST00000455775.2_Missense_Mutation_p.T108M|FOXP3_ENST00000376197.1_Missense_Mutation_p.T58M|FOXP3_ENST00000518685.1_Missense_Mutation_p.T73M|FOXP3_ENST00000376199.2_Missense_Mutation_p.T73M	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	108					B cell homeostasis (GO:0001782)|CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|chromatin remodeling (GO:0006338)|cytokine production (GO:0001816)|myeloid cell homeostasis (GO:0002262)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of immune response (GO:0050777)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of histone acetylation (GO:0035066)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peripheral T cell tolerance induction (GO:0002851)|positive regulation of T cell anergy (GO:0002669)|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 beta1 production (GO:0032914)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell activation (GO:0042110)|T cell homeostasis (GO:0043029)|T cell mediated immunity (GO:0002456)|T cell receptor signaling pathway (GO:0050852)|tolerance induction to self antigen (GO:0002513)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|NFAT protein binding (GO:0051525)|protein homodimerization activity (GO:0042803)|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 corepressor activity (GO:0003714)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					GGCATCCACCGTTGAGAGCTG	0.677													G|||	2	0.000529801	0	0.0014	3775	,	,		12462	0		0	False		,,,				2504	0.001				GBM(182;1432 2112 16160 23073 31774)	ENST00000376207.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	GRCh37	CM066087	FOXP3	M		c.(322-324)aCg>aTg		forkhead box P3							34	31	32					X																	49114015		2199	4298	6497	SO:0001583	missense	50943				B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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 corepressor activity|zinc ion binding	g.chrX:49114015G>A		CCDS14323.1, CCDS48109.1	Xp11.23	2014-09-17		2002-09-20	ENSG00000049768	ENSG00000049768		"Forkhead boxes"	6106	protein-coding gene	gene with protein product		300292	"immune dysregulation, polyendocrinopathy, enteropathy, X-linked"	IPEX		10677306, 11138001	Standard	NM_014009		Approved	JM2, XPID, AIID, PIDX, DIETER, SCURFIN	uc004dnf.4	Q9BZS1	OTTHUMG00000024135	ENST00000376207.4:c.323C>T	X.37:g.49114015G>A	ENSP00000365380:p.Thr108Met					FOXP3_ENST00000518685.1_Missense_Mutation_p.T73M|FOXP3_ENST00000376199.2_Missense_Mutation_p.T73M|FOXP3_ENST00000376197.1_Missense_Mutation_p.T58M|FOXP3_ENST00000455775.2_Missense_Mutation_p.T108M|FOXP3_ENST00000557224.1_Missense_Mutation_p.T73M	p.T108M	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN			4	510	-	Ovarian(276;0.236)		108					A5HJT1|B7ZLG0|B9UN80|O60827|Q14DD8|Q4ZH51	Missense_Mutation	SNP	ENST00000376207.4	37	c.323C>T	CCDS14323.1	.	.	.	.	.	.	.	.	.	.	G	8.651	0.898233	0.17686	.	.	ENSG00000049768	ENST00000376207;ENST00000376199;ENST00000557224;ENST00000518685;ENST00000376197;ENST00000455775	D;D;D;D;D;D	0.98550	-3.72;-4.01;-4.98;-4.01;-4.99;-4.18	5.33	3.4	0.38934	.	0.500579	0.18737	N	0.132552	D	0.92348	0.7572	N	0.19112	0.55	0.09310	N	1	B;B;P;B;B	0.38167	0.037;0.111;0.621;0.037;0.063	B;B;B;B;B	0.21360	0.009;0.023;0.034;0.009;0.032	D	0.88156	0.2854	10	0.87932	D	0	.	4.7924	0.13256	0.1097:0.0:0.6143:0.2759	.	108;108;73;108;73	B9UN80;B7ZLG1;Q9BZS1-3;Q9BZS1;Q9BZS1-2	.;.;.;FOXP3_HUMAN;.	M	108;73;73;73;58;108	ENSP00000365380:T108M;ENSP00000365372:T73M;ENSP00000451208:T73M;ENSP00000428952:T73M;ENSP00000365369:T58M;ENSP00000396415:T108M	ENSP00000365369:T58M	T	-	2	0	FOXP3	49000959	0.018000	0.18449	0.128000	0.21923	0.724000	0.41520	2.123000	0.41996	0.971000	0.38288	0.506000	0.49869	ACG		0.677	FOXP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060814.1	NM_014009		3	29	0	0	0	1	0	3	29					A	49114015	G	A	49114015	3	1	364	1	0	0	0	0	1	0	0	0	6028	1145	40	1	1008	1	FOXP3	23	49114015	Missense_Mutation	SNP	G	TCGA-ET-A2N4-01A-12D-A19J-08		49114015	106156545	33	7720											
MED12	9968	broad.mit.edu	37	chrX	70360648	70360650	+	In_Frame_Del	DEL	CAG	CAG	-													agcagcagcagcaacagcaaCagcagcagcagcagcagcag							TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chrX:70360648_70360650delCAG	ENST00000374080.3	+	42	6240_6242	c.6208_6210delCAG	c.(6208-6210)cagdel	p.Q2076del	MED12_ENST00000333646.6_In_Frame_Del_p.Q2079del|AL590764.1_ENST00000579622.1_RNA|MED12_ENST00000374102.1_In_Frame_Del_p.Q2075del			Q93074	MED12_HUMAN	mediator complex subunit 12	2076	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					gcaacagcaacagcagcagcagc	0.621			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"M, S"	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(6217-6219)del		mediator complex subunit 12				7,109,3423		0,0,6,1,1,78,29,1439,461						2.6	0.4			23	29,192,5891		2,0,16,9,2,98,90,2148,1481	no	codingComplex	MED12	NM_005120.2		2,0,22,10,3,176,119,3587,1942	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		3.6158,3.2778,3.4919				36,301,9314				SO:0001651	inframe_deletion	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70360648_70360650delCAG	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.6208_6210delCAG	X.37:g.70360657_70360659delCAG	ENSP00000363193:p.Gln2076del					MED12_ENST00000478889.1_3'UTR|MED12_ENST00000374080.3_In_Frame_Del_p.Q2076del|MED12_ENST00000374102.1_In_Frame_Del_p.Q2075del	p.Q2079del	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			42	6416_6418	+	Renal(35;0.156)		2076			Gln-rich.		O15410|O75557|Q9UHV6|Q9UND7	In_Frame_Del	DEL	ENST00000374080.3	37	c.6217_6219delCAG	CCDS43970.1																																																																																				0.621	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		7	99						7	99	---	---	---	---	-	70360650	CAG	-	70360648	7	5	364	1	0	1	0	1	0	0	0	0	9428	479	17	0	6374	0	MED12	23	70360648	In_Frame_Del	DEL	CAG	TCGA-ET-A2N4-01A-12D-A19J-08	21246633	70360648	84909912	34	7721											
BEST4	266675	broad.mit.edu	37	chr1	45250578	45250578	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcctgatgcttgctcaccTgcaagttgcggtctatgagc	11	11	2	2	rs201994250		TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr1:45250578T>C	ENST00000372207.3	-	7	991	c.992A>G	c.(991-993)cAg>cGg	p.Q331R		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	331			Q -> E (in dbSNP:rs16832241).			chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					CTTGCTCACCTGCAAGTTGCG	0.577																																						ENST00000372207.3																			0				large_intestine(1)|lung(4)|ovary(1)|skin(1)	7						c.e7+1		bestrophin 4							74	80	78					1																	45250578		2203	4300	6503	SO:0001630	splice_region_variant	266675					chloride channel complex|plasma membrane	chloride channel activity	g.chr1:45250578T>C	AF440757	CCDS514.1	1p33-p32.3	2012-09-26	2006-10-18	2006-10-18	ENSG00000142959	ENSG00000142959		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17106	protein-coding gene	gene with protein product		607336	"vitelliform macular dystrophy 2-like 2"	VMD2L2		12032738, 16702355	Standard	NM_153274		Approved		uc001cmm.3	Q8NFU0	OTTHUMG00000008488	ENST00000372207.3:c.993+1A>G	1.37:g.45250578T>C							p.Q331_splice	NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN			7	991	-	Acute lymphoblastic leukemia(166;0.155)		331		Q -> E (in dbSNP:rs16832241).			Q5JR93	Splice_Site	SNP	ENST00000372207.3	37	c.993_splice	CCDS514.1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.048928	0.93740	.	.	ENSG00000142959	ENST00000372207	D	0.98455	-4.94	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.98899	0.9627	M	0.87682	2.9	0.80722	D	1	D	0.64830	0.994	D	0.71656	0.974	D	0.99486	1.0949	10	0.56958	D	0.05	-32.1374	14.0104	0.64493	0.0:0.0:0.0:1.0	.	331	Q8NFU0	BEST4_HUMAN	R	331	ENSP00000361281:Q331R	ENSP00000361281:Q331R	Q	-	2	0	BEST4	45023165	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.976000	0.63785	2.168000	0.68352	0.533000	0.62120	CAG		0.577	BEST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023425.1	NM_153274	Missense_Mutation	3	73	0	0	0	0.004672	0	3	73					C	45250578	T	C	45250578	5	2	365	1	0	0	0	0	0	0	1	0	1407	1594	55	3	441	3	BEST4	1	45250578	Splice_Site	SNP	T	TCGA-ET-A2N5-01A-11D-A18F-08		45250578	204000043	1	7722											
AMPD1	270	broad.mit.edu	37	chr1	115222322	115222322	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcaggcgccggtgggtatAggtcttactgtgaaaaataa	12	7	2	1			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr1:115222322A>G	ENST00000520113.2	-	7	889	c.874T>C	c.(874-876)Tat>Cat	p.Y292H	AMPD1_ENST00000369538.3_Missense_Mutation_p.Y288H|AMPD1_ENST00000353928.6_Missense_Mutation_p.Y259H			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	292					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	CGGTGGGTATAGGTCTTACTG	0.413																																						ENST00000369538.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45						c.(862-864)Tat>Cat		adenosine monophosphate deaminase 1	Adenosine monophosphate(DB00131)						86	93	91					1																	115222322		2203	4300	6503	SO:0001583	missense	270				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:115222322A>G	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"AMPD isoform M", "skeletal muscle AMPD"	102770	"adenosine monophosphate deaminase 1 (isoform M)"			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.874T>C	1.37:g.115222322A>G	ENSP00000430075:p.Tyr292His					AMPD1_ENST00000520113.2_Missense_Mutation_p.Y292H|AMPD1_ENST00000353928.6_Missense_Mutation_p.Y259H	p.Y288H	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	909	-	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	259					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	c.862T>C	CCDS876.2	.	.	.	.	.	.	.	.	.	.	A	28.7	4.939604	0.92526	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.91180	-2.8;-2.8;-2.8	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.94981	0.8376	M	0.82630	2.6	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.997;0.99	D	0.95674	0.8726	10	0.87932	D	0	-19.1683	16.1485	0.81594	1.0:0.0:0.0:0.0	.	288;259	Q5TF02;P23109	.;AMPD1_HUMAN	H	292;288;259	ENSP00000430075:Y292H;ENSP00000358551:Y288H;ENSP00000316520:Y259H	ENSP00000316520:Y259H	Y	-	1	0	AMPD1	115023845	1.000000	0.71417	0.991000	0.47740	0.980000	0.70556	9.287000	0.95975	2.281000	0.76405	0.533000	0.62120	TAT		0.413	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			3	114	0	0	0	0.004672	0	3	114					G	115222322	A	G	115222322	3	3	365	1	0	0	0	0	1	0	0	0	585	420	15	3	1508	3	AMPD1	1	115222322	Missense_Mutation	SNP	A	TCGA-ET-A2N5-01A-11D-A18F-08	69971744	115222322	134028299	2	7723											
EPHA6	285220	broad.mit.edu	37	chr3	97467477	97467477	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttattggacaccagagacgaAtagtcagcagcatacagact	9	9	1	2			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr3:97467477A>G	ENST00000389672.5	+	18	3363	c.3325A>G	c.(3325-3327)Ata>Gta	p.I1109V		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	1015						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CCAGAGACGAATAGTCAGCAG	0.428																																						ENST00000389672.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						c.(3325-3327)Ata>Gta		EPH receptor A6							114	105	108					3																	97467477		1961	4158	6119	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97467477A>G	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.3325A>G	3.37:g.97467477A>G	ENSP00000374323:p.Ile1109Val						p.I1109V	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN			18	3363	+			1014					D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.3325A>G	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.056769	0.76074	.	.	ENSG00000080224	ENST00000389672	T	0.67865	-0.29	5.44	5.44	0.79542	.	.	.	.	.	T	0.81847	0.4909	M	0.86097	2.795	0.80722	D	1	.	.	.	.	.	.	D	0.85161	0.0992	7	0.72032	D	0.01	.	15.4974	0.75666	1.0:0.0:0.0:0.0	.	.	.	.	V	1109	ENSP00000374323:I1109V	ENSP00000374323:I1109V	I	+	1	0	EPHA6	98950167	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.962000	0.93254	2.062000	0.61559	0.528000	0.53228	ATA		0.428	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		3	31	0	0	0	0.014758	0	3	31					G	97467477	A	G	97467477	3	3	365	1	0	0	0	0	1	0	0	0	5171	101	4	3	3512	3	EPHA6	3	97467477	Missense_Mutation	SNP	A	TCGA-ET-A2N5-01A-11D-A18F-08		97467477	100554953	3	7724											
SOX2	6657	broad.mit.edu	37	chr3	181430265	181430265	+	Frame_Shift_Del	DEL	C	C	-													aaccagaaaaacagcccggaCcgcgtcaagcggcccatgaa							TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr3:181430265delC	ENST00000325404.1	+	1	544	c.117delC	c.(115-117)gacfs	p.D39fs	SOX2_ENST00000431565.2_Frame_Shift_Del_p.D39fs	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	39					adenohypophysis development (GO:0021984)|cell cycle arrest (GO:0007050)|cerebral cortex development (GO:0021987)|chromatin organization (GO:0006325)|detection of mechanical stimulus involved in equilibrioception (GO:0050973)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|diencephalon morphogenesis (GO:0048852)|endodermal cell fate specification (GO:0001714)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|eye development (GO:0001654)|forebrain development (GO:0030900)|forebrain neuron differentiation (GO:0021879)|glial cell fate commitment (GO:0021781)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|male genitalia development (GO:0030539)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate commitment (GO:0048663)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|osteoblast differentiation (GO:0001649)|pigment biosynthetic process (GO:0046148)|pituitary gland development (GO:0021983)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to growth factor (GO:0070848)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|retina morphogenesis in camera-type eye (GO:0060042)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|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)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			ACAGCCCGGACCGCGTCAAGC	0.687			A		"NSCLC, oesophageal squamous carcinoma"		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME																															ENST00000325404.1				Dom	yes		3	3q26.3-q27	6657	A	SRY (sex determining region Y)-box 2	yes	MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME	E			"NSCLC, oesophageal squamous carcinoma"		0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10						c.(115-117)gafs		SRY (sex determining region Y)-box 2							20	23	22					3																	181430265		2203	4299	6502	SO:0001589	frameshift_variant	6657				cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:181430265delC	BC013923	CCDS3239.1	3q26.3-q27	2014-09-17						"SRY (sex determining region Y)-boxes"	11195	protein-coding gene	gene with protein product		184429				7849401	Standard	NM_003106		Approved		uc003fkx.3	P48431		ENST00000325404.1:c.117delC	3.37:g.181430265delC	ENSP00000323588:p.Asp39fs					SOX2_ENST00000431565.2_Frame_Shift_Del_p.D39fs	p.D39fs	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)		1	544	+	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		39					Q14537	Frame_Shift_Del	DEL	ENST00000325404.1	37	c.117delC	CCDS3239.1																																																																																				0.687	SOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350419.1	NM_003106		19	12						19	12	---	---	---	---	-	181430265	C	-	181430265	7	5	365	1	0	1	0	1	0	0	0	0	14949	506	18	0	119	0	SOX2	3	181430265	Frame_Shift_Del	DEL	C	TCGA-ET-A2N5-01A-11D-A18F-08	83962788	181430265	16592165	4	7725											
CLCN2	1181	broad.mit.edu	37	chr3	184071569	184071569	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccatgatgtcctccacaCgcacccggtactgcctgggg	11	16	0	1	rs201130753		TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr3:184071569C>T	ENST00000265593.4	-	16	1907	c.1736G>A	c.(1735-1737)cGt>cAt	p.R579H	CLCN2_ENST00000434054.2_Missense_Mutation_p.R535H|CLCN2_ENST00000475279.1_5'Flank|CLCN2_ENST00000344937.7_Missense_Mutation_p.R562H|CLCN2_ENST00000423355.2_3'UTR|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000457512.1_Missense_Mutation_p.R579H	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	579					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GTCCTCCACACGCACCCGGTA	0.642													C|||	0	0	0	0	5008	,	,		19015	0		0	False		,,,				2504	0					ENST00000265593.4																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1735-1737)cGt>cAt		chloride channel, voltage-sensitive 2	Lubiprostone(DB01046)	C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	39	38	38		1685,1604,1736,1736	5.0	1.0	3		38	0,8596		0,0,4298	no	missense,missense,missense,missense	CLCN2	NM_001171087.1,NM_001171088.1,NM_001171089.1,NM_004366.4	29,29,29,29	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	562/882,535/855,579/870,579/899	184071569	1,13001	2203	4298	6501	SO:0001583	missense	1181					chloride channel complex	voltage-gated chloride channel activity	g.chr3:184071569C>T	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"Ion channels / Chloride channels : Voltage-sensitive"	2020	protein-coding gene	gene with protein product		600570	"chloride channel 2"			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.1736G>A	3.37:g.184071569C>T	ENSP00000265593:p.Arg579His					CLCN2_ENST00000457512.1_Missense_Mutation_p.R579H|CLCN2_ENST00000434054.2_Missense_Mutation_p.R535H|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Missense_Mutation_p.R562H|CLCN2_ENST00000423355.2_3'UTR	p.R579H	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		16	1907	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		579					B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	37	c.1736G>A	CCDS3263.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	19.00	3.741843	0.69304	2.27E-4	0.0	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.93058	0.7790	L	0.58810	1.83	0.80722	D	1	D;D;D;D;P	0.89917	1.0;1.0;0.978;1.0;0.935	D;D;P;D;B	0.91635	0.999;0.994;0.566;0.994;0.233	D	0.91969	0.5585	10	0.33940	T	0.23	-6.0491	17.9227	0.88972	0.0:1.0:0.0:0.0	.	535;579;562;579;535	E9PBD9;E9PCD2;P51788-3;P51788;B4DZ58	.;.;.;CLCN2_HUMAN;.	H	579;562;535;579	ENSP00000265593:R579H;ENSP00000345056:R562H;ENSP00000400425:R535H;ENSP00000391928:R579H	ENSP00000265593:R579H	R	-	2	0	CLCN2	185554263	0.919000	0.31177	1.000000	0.80357	0.978000	0.69477	3.116000	0.50399	2.320000	0.78422	0.563000	0.77884	CGT		0.642	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			3	11	0	0	0	0.004672	0	3	11					T	184071569	C	T	184071569	3	4	365	1	0	0	0	0	1	0	0	0	3463	536	19	1	996	1	CLCN2	3	184071569	Missense_Mutation	SNP	C	TCGA-ET-A2N5-01A-11D-A18F-08	2641304	184071569	13950861	5	7726											
WHSC2	7469	broad.mit.edu	37	chr4	1985181	1985181	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggcaggtcctccgtgtgCtcgctcagcttgatctggat	13	11	2	1			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr4:1985181C>T	ENST00000411638.2	-	11	1467	c.1452G>A	c.(1450-1452)gaG>gaA	p.E484E	MIR943_ENST00000401286.1_RNA|NELFA_ENST00000542778.1_Silent_p.E349E|NELFA_ENST00000382882.3_Silent_p.E495E	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	484					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)										CCTCCGTGTGCTCGCTCAGCT	0.642																																						ENST00000382882.3																			0											c.(1483-1485)gaG>gaA		negative elongation factor complex member A							183	164	170					4																	1985181		2203	4300	6503	SO:0001819	synonymous_variant	7469							g.chr4:1985181C>T	AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"Wolf-Hirschhorn syndrome candidate 2"	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.1452G>A	4.37:g.1985181C>T						NELFA_ENST00000542778.1_Silent_p.E349E|NELFA_ENST00000411638.1_Silent_p.E484E	p.E495E	NM_005663.4	NP_005654.3					11	2602	-								A2A2T1|O95392	Silent	SNP	ENST00000411638.2	37	c.1485G>A																																																																																					0.642	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473007.1	NM_005663		4	150	0	0	0	0.009096	0	4	150					T	1985181	C	T	1985181	2	4	365	1	0	0	0	0	0	0	0	1	17361	796	28	2		2	WHSC2	4	1985181	Silent	SNP	C	TCGA-ET-A2N5-01A-11D-A18F-08		1985181	189169095	6	7727											
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	14	13	0	0	rs121913233		TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117	102	107					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)				HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR	p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		38	58	0	0	0	0.00623	0	38	58					C	533874	T	C	533874	3	2	365	1	0	0	0	0	1	0	0	0	7348	1580	55	3	466	3	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-ET-A2N5-01A-11D-A18F-08		533874	134472642	7	7728											
PTPRB	5787	broad.mit.edu	37	chr12	70948968	70948968	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctctcaccaccactgtgaaGtatttcacagctccattggt	6	13	3	1			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr12:70948968G>T	ENST00000261266.5	-	18	4490	c.4461C>A	c.(4459-4461)taC>taA	p.Y1487*	PTPRB_ENST00000538708.1_Nonsense_Mutation_p.Y1397*|PTPRB_ENST00000451516.2_Nonsense_Mutation_p.Y1397*|PTPRB_ENST00000550358.1_Nonsense_Mutation_p.Y1617*|PTPRB_ENST00000550857.1_Nonsense_Mutation_p.Y1397*|PTPRB_ENST00000334414.6_Nonsense_Mutation_p.Y1705*	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1487	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CCACTGTGAAGTATTTCACAG	0.443																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(5113-5115)taC>taA		protein tyrosine phosphatase, receptor type, B							101	96	98					12																	70948968		1954	4169	6123	SO:0001587	stop_gained	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70948968G>T	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.4461C>A	12.37:g.70948968G>T	ENSP00000261266:p.Tyr1487*					PTPRB_ENST00000550857.1_Nonsense_Mutation_p.Y1397*|PTPRB_ENST00000550358.1_Nonsense_Mutation_p.Y1617*|PTPRB_ENST00000538708.1_Nonsense_Mutation_p.Y1397*|PTPRB_ENST00000451516.2_Nonsense_Mutation_p.Y1397*|PTPRB_ENST00000261266.5_Nonsense_Mutation_p.Y1487*	p.Y1705*	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		20	5159	-	Renal(347;0.236)		1487			Tyrosine-protein phosphatase.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Nonsense_Mutation	SNP	ENST00000261266.5	37	c.5115C>A	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	G	43	10.191832	0.99355	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	.	.	.	5.8	2.93	0.34026	.	0.056861	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.9624	0.35856	0.2825:0.0:0.7175:0.0	.	.	.	.	X	1705;1397;1617;1397;1397;1487	.	ENSP00000261266:Y1487X	Y	-	3	2	PTPRB	69235235	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.229000	0.51278	0.333000	0.23563	-0.670000	0.03821	TAC		0.443	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			28	46	1	0	4.74835e-14	0.010818	1.12061e-13	28	46					T	70948968	G	T	70948968	4	4	365	1	0	0	0	0	0	1	0	0	12796	1024	36	4	1592	4	PTPRB	12	70948968	Nonsense_Mutation	SNP	G	TCGA-ET-A2N5-01A-11D-A18F-08		70948968	62902927	8	7729											
ZFP90	146198	broad.mit.edu	37	chr16	68598529	68598529	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaaccctattcttgtaaggaAtgtgggaaaaacttcagccg	9	8	2	0			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr16:68598529A>T	ENST00000570495.1	+	5	2131	c.1839A>T	c.(1837-1839)gaA>gaT	p.E613D	ZFP90_ENST00000398253.2_Missense_Mutation_p.E613D|ZFP90_ENST00000563169.2_Missense_Mutation_p.E613D			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	613					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	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 negative regulation of transcription (GO:0001078)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		CTTGTAAGGAATGTGGGAAAA	0.383																																						ENST00000570495.1																			0				breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1837-1839)gaA>gaT		ZFP90 zinc finger protein							80	89	86					16																	68598529		2113	4270	6383	SO:0001583	missense	146198				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:68598529A>T	AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"Zinc fingers, C2H2-type", "-"	23329	protein-coding gene	gene with protein product		609451	"zinc finger protein 90 homolog (mouse)"			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.1839A>T	16.37:g.68598529A>T	ENSP00000460547:p.Glu613Asp					ZFP90_ENST00000563169.2_Missense_Mutation_p.E613D|ZFP90_ENST00000398253.2_Missense_Mutation_p.E613D|RP11-615I2.7_ENST00000571720.1_RNA	p.E613D			Q8TF47	ZFP90_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)	5	2131	+		Ovarian(137;0.192)	613					B2RU00|B3KVE7|Q49AD1|Q96MQ6	Missense_Mutation	SNP	ENST00000570495.1	37	c.1839A>T	CCDS42183.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.00|12.00	1.806532|1.806532	0.31961|0.31961	.|.	.|.	ENSG00000184939|ENSG00000184939	ENST00000398253|ENST00000327567	T|.	0.07444|.	3.19|.	5.64|5.64	3.34|3.34	0.38264|0.38264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.37489|0.37489	0.1005|0.1005	L|L	0.35723|0.35723	1.085|1.085	0.25075|0.25075	N|N	0.990967|0.990967	P|.	0.39216|.	0.664|.	B|.	0.42343|.	0.384|.	T|T	0.21930|0.21930	-1.0231|-1.0231	9|6	0.36615|0.42905	T|T	0.2|0.14	-15.8748|-15.8748	8.8401|8.8401	0.35137|0.35137	0.8424:0.0:0.1576:0.0|0.8424:0.0:0.1576:0.0	.|.	613|.	Q8TF47|.	ZFP90_HUMAN|.	D|I	613|86	ENSP00000381304:E613D|.	ENSP00000381304:E613D|ENSP00000329859:N86I	E|N	+|+	3|2	2|0	ZFP90|ZFP90	67156030|67156030	0.001000|0.001000	0.12720|0.12720	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	-0.782000|-0.782000	0.04643|0.04643	0.480000|0.480000	0.27534|0.27534	0.454000|0.454000	0.30748|0.30748	GAA|AAT		0.383	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375		52	69	0	0	0	0.01441	0	52	69					T	68598529	A	T	68598529	3	4	365	1	0	0	0	0	1	0	0	0	17651	98	4	5	1853	5	ZFP90	16	68598529	Missense_Mutation	SNP	A	TCGA-ET-A2N5-01A-11D-A18F-08		68598529	21756224	9	7730											
GPR179	440435	broad.mit.edu	37	chr17	36484690	36484690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacagatttctgttttggCaggtgttgcttcctgtgcct	13	8	1	1			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr17:36484690C>T	ENST00000342292.4	-	11	4782	c.4762G>A	c.(4762-4764)Gcc>Acc	p.A1588T	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1588					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)				TCTGTTTTGGCAGGTGTTGCT	0.502																																						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.(4762-4764)Gcc>Acc		G protein-coupled receptor 179							152	151	151					17																	36484690		2004	4187	6191	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36484690C>T		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.4762G>A	17.37:g.36484690C>T	ENSP00000345060:p.Ala1588Thr						p.A1588T	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			11	4782	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1588						Missense_Mutation	SNP	ENST00000342292.4	37	c.4762G>A	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.487981	0.44249	.	.	ENSG00000188888	ENST00000342292	T	0.54279	0.58	4.62	2.5	0.30297	.	0.549164	0.15311	N	0.269065	T	0.39384	0.1076	L	0.46614	1.455	0.09310	N	1	P	0.36222	0.544	B	0.30251	0.113	T	0.32903	-0.9889	10	0.59425	D	0.04	-2.0323	6.8916	0.24232	0.1781:0.7267:0.0:0.0952	.	1588	Q6PRD1	GP179_HUMAN	T	1588	ENSP00000345060:A1588T	ENSP00000345060:A1588T	A	-	1	0	GPR179	33738216	0.000000	0.05858	0.008000	0.14137	0.259000	0.26198	0.618000	0.24373	1.089000	0.41292	0.313000	0.20887	GCC		0.502	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			5	159	0	0	0	0.001168	0	5	159					T	36484690	C	T	36484690	3	4	365	1	0	0	0	0	1	0	0	0	6674	710	25	2	2345	2	GPR179	17	36484690	Missense_Mutation	SNP	C	TCGA-ET-A2N5-01A-11D-A18F-08		36484690	44710520	10	7731											
SKA2	348235	broad.mit.edu	37	chr17	57196756	57196756	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tagcacaaatgcggctcttaCtctctttctgctcaacagca	6	13	4	0			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr17:57196756C>G	ENST00000330137.7	-	3	326	c.221G>C	c.(220-222)aGt>aCt	p.S74T	SKA2_ENST00000583380.1_Missense_Mutation_p.S74T|SKA2_ENST00000578105.1_Missense_Mutation_p.S45T|SKA2_ENST00000437036.2_Intron|SKA2_ENST00000581068.1_Intron|SKA2_ENST00000580541.1_Intron|AC099850.1_ENST00000451775.1_RNA|SKA2_ENST00000583927.1_Intron	NM_182620.3	NP_872426.1	Q8WVK7	SKA2_HUMAN	spindle and kinetochore associated complex subunit 2	74					cell division (GO:0051301)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|spindle microtubule (GO:0005876)	microtubule binding (GO:0008017)			lung(4)	4						GCGGCTCTTACTCTCTTTCTG	0.378																																						ENST00000330137.7																			0				lung(4)	4						c.(220-222)aGt>aCt		spindle and kinetochore associated complex subunit 2							154	141	145					17																	57196756		1853	4095	5948	SO:0001583	missense	348235				cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding	g.chr17:57196756C>G	BC017873	CCDS45747.1, CCDS45748.1	17q23.2	2013-01-17	2009-08-19	2009-08-19	ENSG00000182628	ENSG00000182628			28006	protein-coding gene	gene with protein product			"family with sequence similarity 33, member A"	FAM33A		17093495, 19289083, 18583474	Standard	NM_182620		Approved	FLJ12758	uc010dde.1	Q8WVK7		ENST00000330137.7:c.221G>C	17.37:g.57196756C>G	ENSP00000333433:p.Ser74Thr					SKA2_ENST00000580541.1_Intron|SKA2_ENST00000583380.1_Missense_Mutation_p.S74T|SKA2_ENST00000583927.1_Intron|SKA2_ENST00000581068.1_Intron|SKA2_ENST00000437036.2_Intron|SKA2_ENST00000578105.1_Missense_Mutation_p.S45T	p.S74T	NM_182620.3	NP_872426.1	Q8WVK7	SKA2_HUMAN			3	326	-			74					A6NIL3|B3KPL3|E9PCB8	Missense_Mutation	SNP	ENST00000330137.7	37	c.221G>C	CCDS45747.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.555124	0.27739	.	.	ENSG00000182628	ENST00000330137	T	0.26810	1.71	5.05	4.08	0.47627	.	0.167360	0.53938	N	0.000042	T	0.11750	0.0286	.	.	.	0.23180	N	0.998167	B	0.02656	0.0	B	0.01281	0.0	T	0.35400	-0.9790	9	0.09084	T	0.74	.	8.0835	0.30758	0.0869:0.1597:0.7534:0.0	.	74	Q8WVK7	SKA2_HUMAN	T	74	ENSP00000333433:S74T	ENSP00000333433:S74T	S	-	2	0	SKA2	54551538	0.999000	0.42202	0.997000	0.53966	0.761000	0.43186	1.130000	0.31393	0.536000	0.28733	-0.352000	0.07741	AGT		0.378	SKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445939.1	NM_182620		4	115	0	0	0	0.009096	0	4	115					G	57196756	C	G	57196756	3	3	365	1	0	0	0	0	1	0	0	0	14353	565	20	4	152	4	SKA2	17	57196756	Missense_Mutation	SNP	C	TCGA-ET-A2N5-01A-11D-A18F-08	20712066	57196756	23998454	11	7732											
CCDC137	339230	broad.mit.edu	37	chr17	79639617	79639619	+	In_Frame_Del	DEL	GGA	GGA	-													ctggcccgccagcggattgtGgaggaggagagagagcgggc					rs376394338|rs34191669	byFrequency	TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr17:79639617_79639619delGGA	ENST00000329214.8	+	6	1156_1158	c.753_755delGGA	c.(751-756)gtggag>gtg	p.E254del		NM_199287.2	NP_954981.1	Q6PK04	CC137_HUMAN	coiled-coil domain containing 137	254							poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2)	12	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			AGCGGATTGTGGAGGAGGAGAGA	0.67														78	0.0155751	0.0545	0.0086	5008	,	,		18213	0		0	False		,,,				2504	0					ENST00000329214.8																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2)	12						c.(751-756)gtg>gt		coiled-coil domain containing 137				251,3523		30,191,1666						5.1	0.0		dbSNP_126	15	33,7857		15,3,3927	no	coding	CCDC137	NM_199287.2		45,194,5593	A1A1,A1R,RR		0.4183,6.6508,2.4348				284,11380				SO:0001651	inframe_deletion	339230							g.chr17:79639617_79639619delGGA	BC009369	CCDS42400.1	17q25.3	2008-07-04				ENSG00000185298			33451	protein-coding gene	gene with protein product		614271					Standard	NM_199287		Approved	MGC16597	uc002kbc.4	Q6PK04		ENST00000329214.8:c.753_755delGGA	17.37:g.79639623_79639625delGGA	ENSP00000329360:p.Glu254del						p.VE251del	NM_199287.2	NP_954981.1	Q6PK04	CC137_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		6	1156_1158	+	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		251						In_Frame_Del	DEL	ENST00000329214.8	37	c.753_755delGGA	CCDS42400.1																																																																																				0.67	CCDC137-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440387.1			4	4						4	4	---	---	---	---	-	79639619	GGA	-	79639617	7	5	365	1	0	1	0	1	0	0	0	0	2771	1335	47	0	775	0	CCDC137	17	79639617	In_Frame_Del	DEL	GGA	TCGA-ET-A2N5-01A-11D-A18F-08	22442861	79639617	1555593	12	7733											
ZNF491	126069	broad.mit.edu	37	chr19	11917928	11917928	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaccttatgaatgtaagcAttgtgggaaagccttcactt	8	7	1	1			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr19:11917928A>G	ENST00000323169.5	+	3	1491	c.1160A>G	c.(1159-1161)cAt>cGt	p.H387R	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	387					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						GAATGTAAGCATTGTGGGAAA	0.393																																						ENST00000323169.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						c.(1159-1161)cAt>cGt		zinc finger protein 491							51	56	55					19																	11917928		2203	4300	6503	SO:0001583	missense	126069				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11917928A>G	AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"Zinc fingers, C2H2-type"	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.1160A>G	19.37:g.11917928A>G	ENSP00000313443:p.His387Arg					ZNF491_ENST00000492230.1_Intron	p.H387R	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN			3	1491	+			387					Q3MJ35|Q8NAT8	Missense_Mutation	SNP	ENST00000323169.5	37	c.1160A>G	CCDS12267.1	.	.	.	.	.	.	.	.	.	.	a	3.287	-0.145792	0.06627	.	.	ENSG00000177599	ENST00000323169;ENST00000455048	T	0.18810	2.19	0.981	0.981	0.19756	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19366	0.0465	L	0.49778	1.585	0.09310	N	1	B	0.12630	0.006	B	0.19666	0.026	T	0.27434	-1.0074	9	0.66056	D	0.02	.	7.5236	0.27643	1.0:0.0:0.0:0.0	.	387	Q8N8L2	ZN491_HUMAN	R	387;359	ENSP00000313443:H387R	ENSP00000313443:H387R	H	+	2	0	ZNF491	11778928	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.036000	0.12185	0.710000	0.31997	0.414000	0.27820	CAT		0.393	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1	NM_152356		27	36	0	0	0	0.004656	0	27	36					G	11917928	A	G	11917928	3	3	365	1	0	0	0	0	1	0	0	0	17939	217	8	3	1162	3	ZNF491	19	11917928	Missense_Mutation	SNP	A	TCGA-ET-A2N5-01A-11D-A18F-08		11917928	47211055	13	7734											
ASXL1	171023	broad.mit.edu	37	chr20	31024411	31024411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcagagcaatgttacagGccaagggaagaagctttttg	12	6	1	3			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr20:31024411G>A	ENST00000375687.4	+	13	4320	c.3896G>A	c.(3895-3897)gGc>gAc	p.G1299D	ASXL1_ENST00000306058.5_Missense_Mutation_p.G1294D	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1299					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AATGTTACAGGCCAAGGGAAG	0.557			"F, N, Mis"		"MDS, CMML"																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"F, N, Mis"	additional sex combs like 1			L			"MDS, CMML"		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(3895-3897)gGc>gAc		additional sex combs like 1 (Drosophila)							67	66	66					20																	31024411		2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31024411G>A	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.3896G>A	20.37:g.31024411G>A	ENSP00000364839:p.Gly1299Asp					ASXL1_ENST00000306058.5_Missense_Mutation_p.G1294D	p.G1299D	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			13	4320	+			1299					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.3896G>A	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.838653	0.32513	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.17854	2.26;2.25	4.56	3.61	0.41365	.	0.384664	0.29660	N	0.011527	T	0.11495	0.0280	L	0.36672	1.1	0.33225	D	0.555162	B;B	0.25390	0.125;0.125	B;B	0.20184	0.028;0.028	T	0.09840	-1.0656	10	0.32370	T	0.25	-11.0831	5.8012	0.18414	0.0966:0.0:0.6978:0.2056	.	1294;1299	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	D	1299;1299;1299;1220;1294	ENSP00000364839:G1299D;ENSP00000305119:G1294D	ENSP00000305119:G1294D	G	+	2	0	ASXL1	30488072	0.928000	0.31464	0.995000	0.50966	0.412000	0.31113	0.863000	0.27913	1.531000	0.49152	0.561000	0.74099	GGC		0.557	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		27	48	0	0	0	0.005443	0	27	48					A	31024411	G	A	31024411	3	1	365	1	0	0	0	0	1	0	0	0	1066	1203	42	2	3952	2	ASXL1	20	31024411	Missense_Mutation	SNP	G	TCGA-ET-A2N5-01A-11D-A18F-08		31024411	32001109	14	7735											
CEP250	11190	broad.mit.edu	37	chr20	34087927	34087927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagagcgtctaactgataCtgaggctgagaagagccagg	15	7	1	5			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr20:34087927C>T	ENST00000397527.1	+	28	4547	c.3827C>T	c.(3826-3828)aCt>aTt	p.T1276I	CEP250_ENST00000342580.4_Missense_Mutation_p.T1220I	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1276	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTAACTGATACTGAGGCTGAG	0.512																																						ENST00000397527.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(3826-3828)aCt>aTt		centrosomal protein 250kDa							133	120	125					20																	34087927		2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34087927C>T	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.3827C>T	20.37:g.34087927C>T	ENSP00000380661:p.Thr1276Ile					CEP250_ENST00000342580.4_Missense_Mutation_p.T1220I	p.T1276I	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		28	4547	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		1276			Gln/Glu-rich.		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.3827C>T	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	C	7.962	0.747258	0.15710	.	.	ENSG00000126001	ENST00000397527;ENST00000342580	T;T	0.10099	2.91;2.91	5.18	0.744	0.18353	.	1.144410	0.06348	N	0.709438	T	0.11537	0.0281	M	0.63428	1.95	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.42413	-0.9453	10	0.20519	T	0.43	.	4.8403	0.13487	0.0:0.4944:0.1466:0.359	.	1276	Q9BV73	CP250_HUMAN	I	1276;1220	ENSP00000380661:T1276I;ENSP00000341541:T1220I	ENSP00000341541:T1220I	T	+	2	0	CEP250	33551341	0.001000	0.12720	0.001000	0.08648	0.965000	0.64279	0.649000	0.24843	0.015000	0.14971	0.655000	0.94253	ACT		0.512	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		45	65	0	0	0	0.013114	0	45	65					T	34087927	C	T	34087927	3	4	365	1	0	0	0	0	1	0	0	0	3252	565	20	2	3925	2	CEP250	20	34087927	Missense_Mutation	SNP	C	TCGA-ET-A2N5-01A-11D-A18F-08	3063516	34087927	28937593	15	7736											
BCAP31	10134	broad.mit.edu	37	chrX	152986357	152986357	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagcacaaggatgacaatgaGaaccacaaagaaggtgttgc	11	8	0	3			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chrX:152986357G>A	ENST00000345046.6	-	3	570	c.163C>T	c.(163-165)Ctc>Ttc	p.L55F	BCAP31_ENST00000441714.1_Missense_Mutation_p.L55F|BCAP31_ENST00000468947.1_5'UTR|BCAP31_ENST00000458587.2_Missense_Mutation_p.L122F	NM_001256447.1	NP_001243376.1	P51572	BAP31_HUMAN	B-cell receptor-associated protein 31	55					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein localization to endoplasmic reticulum exit site (GO:0070973)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lipid particle (GO:0005811)|membrane (GO:0016020)				endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATGACAATGAGAACCACAAAG	0.502																																						ENST00000458587.2																			0				endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7						c.(364-366)Ctc>Ttc		B-cell receptor-associated protein 31							201	140	161					X																	152986357		2203	4300	6503	SO:0001583	missense	10134				cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport	cytosol|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to plasma membrane	receptor binding	g.chrX:152986357G>A	X81109	CCDS14727.1, CCDS48191.1	Xq28	2005-10-11			ENSG00000185825	ENSG00000185825			16695	protein-coding gene	gene with protein product		300398					Standard	NM_001139441		Approved	DXS1357E, BAP31, 6C6-Ag, CDM	uc011mza.1	P51572	OTTHUMG00000024218	ENST00000345046.6:c.163C>T	X.37:g.152986357G>A	ENSP00000343458:p.Leu55Phe					BCAP31_ENST00000345046.6_Missense_Mutation_p.L55F|BCAP31_ENST00000441714.1_Missense_Mutation_p.L55F	p.L122F	NM_001139441.1|NM_001139457.2	NP_001132913.1|NP_001132929.1	P51572	BAP31_HUMAN			3	793	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		55					B3KQ79|D3DWV5|Q13836|Q96CF0	Missense_Mutation	SNP	ENST00000345046.6	37	c.364C>T	CCDS14727.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138458	0.77775	.	.	ENSG00000185825	ENST00000441714;ENST00000345046;ENST00000426131;ENST00000458587;ENST00000442093;ENST00000429550;ENST00000416815;ENST00000423827;ENST00000430088	.	.	.	5.77	5.77	0.91146	.	0.195270	0.46758	D	0.000280	T	0.64560	0.2609	L	0.39692	1.235	0.44214	D	0.997048	D;P	0.56287	0.975;0.743	P;B	0.60609	0.877;0.248	T	0.57283	-0.7838	9	0.14656	T	0.56	-15.7073	17.5629	0.87912	0.0:0.0:1.0:0.0	.	55;122	P51572;B3KQ79	BAP31_HUMAN;.	F	55;55;122;122;55;55;55;55;55	.	ENSP00000343458:L55F	L	-	1	0	BCAP31	152639551	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.634000	0.61325	2.418000	0.82041	0.600000	0.82982	CTC		0.502	BCAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061071.1	NM_005745		7	70	0	0	0	0.001984	0	7	70					A	152986357	G	A	152986357	3	1	365	1	0	0	0	0	1	0	0	0	1347	942	33	2	601	2	BCAP31	23	152986357	Missense_Mutation	SNP	G	TCGA-ET-A2N5-01A-11D-A18F-08		152986357	2284203	16	7737											
DENND4B	9909	broad.mit.edu	37	chr1	153907281	153907281	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atgtgctgacacctgctcctGctgctgctgctgctgctgct	11	14	0	1	rs3835302		TCGA-ET-A39I-01A-11D-A19J-08	TCGA-ET-A39I-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d	18c8e8c6-9edf-4421-869c-bb7d800c659e	g.chr1:153907281G>C	ENST00000361217.4	-	18	3146	c.2728C>G	c.(2728-2730)Cag>Gag	p.Q910E	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	910	Gln-rich.				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)			ACctgctcctgctgctgctgc	0.637																																						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.(2728-2730)Cag>Gag		DENN/MADD domain containing 4B							23	26	25					1																	153907281		2184	4283	6467	SO:0001583	missense	9909							g.chr1:153907281G>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.2728C>G	1.37:g.153907281G>C	ENSP00000354597:p.Gln910Glu						p.Q910E	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3146	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		910			Gln-rich.		Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	c.2728C>G	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	G	1.472	-0.559641	0.03967	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.06142	3.35;3.34	3.46	-0.019	0.13961	.	5.533310	0.00166	N	0.000005	T	0.00784	0.0026	N	0.08118	0	0.18873	N	0.999986	B	0.02656	0.0	B	0.01281	0.0	T	0.32455	-0.9906	10	0.05833	T	0.94	.	5.5137	0.16894	0.0:0.2087:0.4093:0.382	.	910	O75064	DEN4B_HUMAN	E	910;921	ENSP00000354597:Q910E;ENSP00000357635:Q921E	ENSP00000354597:Q910E	Q	-	1	0	DENND4B	152173905	0.001000	0.12720	0.930000	0.37139	0.549000	0.35272	0.424000	0.21330	0.270000	0.21984	0.264000	0.19307	CAG		0.637	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		3	31	0	0	0	1	0	3	31					C	153907281	G	C	153907281	3	2	366	1	0	0	0	0	1	0	0	0	4434	1328	46	4	1806	4	DENND4B	1	153907281	Missense_Mutation	SNP	G	TCGA-ET-A39I-01A-11D-A19J-08		153907281	95343340	1	7738											
TCF7L1	83439	broad.mit.edu	37	chr2	85536172	85536172	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgccctggcctccaagagcAagaagccatgtgttcagtac	11	12	1	2			TCGA-ET-A39I-01A-11D-A19J-08	TCGA-ET-A39I-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d	18c8e8c6-9edf-4421-869c-bb7d800c659e	g.chr2:85536172A>T	ENST00000282111.3	+	12	1629	c.1354A>T	c.(1354-1356)Aag>Tag	p.K452*		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	452					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CTCCAAGAGCAAGAAGCCATG	0.602																																						ENST00000282111.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						c.(1354-1356)Aag>Tag		transcription factor 7-like 1 (T-cell specific, HMG-box)							162	178	173					2																	85536172		2203	4300	6503	SO:0001587	stop_gained	83439				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:85536172A>T	X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.1354A>T	2.37:g.85536172A>T	ENSP00000282111:p.Lys452*						p.K452*	NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN			12	1629	+			452					Q53R97|Q6PD70|Q9NP00	Nonsense_Mutation	SNP	ENST00000282111.3	37	c.1354A>T	CCDS1971.1	.	.	.	.	.	.	.	.	.	.	A	38	7.182231	0.98118	.	.	ENSG00000152284	ENST00000282111	.	.	.	4.81	4.81	0.61882	.	0.218540	0.48286	D	0.000193	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3514	0.55151	1.0:0.0:0.0:0.0	.	.	.	.	X	452	.	ENSP00000282111:K452X	K	+	1	0	TCF7L1	85389683	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.652000	0.74377	2.018000	0.59344	0.448000	0.29417	AAG		0.602	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	NM_031283		112	160	0	0	0	1	0	112	160					T	85536172	A	T	85536172	4	4	366	1	0	0	0	0	0	1	0	0	15694	131	5	5	1400	5	TCF7L1	2	85536172	Nonsense_Mutation	SNP	A	TCGA-ET-A39I-01A-11D-A19J-08		85536172	157663201	2	7739											
KBTBD10	10324	broad.mit.edu	37	chr2	170367329	170367329	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttacccagcaaaatcagatAtatgtggtaggaggactata	10	6	1	1			TCGA-ET-A39I-01A-11D-A19J-08	TCGA-ET-A39I-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d	18c8e8c6-9edf-4421-869c-bb7d800c659e	g.chr2:170367329A>T	ENST00000284669.1	+	1	1118	c.1041A>T	c.(1039-1041)atA>atT	p.I347I	BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	347					myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											AAAATCAGATATATGTGGTAG	0.413																																						ENST00000284669.1																			0											c.(1039-1041)atA>atT		kelch-like family member 41							88	91	90					2																	170367329		2203	4300	6503	SO:0001819	synonymous_variant	10324							g.chr2:170367329A>T	AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"Kelch-like", "BTB/POZ domain containing"	16905	protein-coding gene	gene with protein product	"sarcomeric muscle protein"	607701	"kelch repeat and BTB (POZ) domain containing 10", "kelch-like 41 (Drosophila)"	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.1041A>T	2.37:g.170367329A>T						BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	p.I347I	NM_006063.2	NP_006054.2					1	1118	+								Q53R42	Silent	SNP	ENST00000284669.1	37	c.1041A>T	CCDS2234.1																																																																																				0.413	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063		16	85	0	0	0	1	0	16	85					T	170367329	A	T	170367329	2	4	366	1	0	0	0	0	0	0	0	1	7990	439	16	5		5	KBTBD10	2	170367329	Silent	SNP	A	TCGA-ET-A39I-01A-11D-A19J-08	84831157	170367329	72832044	3	7740											
ZNF148	7707	broad.mit.edu	37	chr3	124951687	124951687	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttatcagtcacaaagttaAggctcgggctattcaaatag	10	7	3	0			TCGA-ET-A39I-01A-11D-A19J-08	TCGA-ET-A39I-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d	18c8e8c6-9edf-4421-869c-bb7d800c659e	g.chr3:124951687A>C	ENST00000360647.4	-	9	2368	c.1883T>G	c.(1882-1884)cTt>cGt	p.L628R	ZNF148_ENST00000497929.1_5'UTR|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.L628R|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.L628R|ZNF148_ENST00000485866.1_Missense_Mutation_p.L628R	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	628					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|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)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						CACAAAGTTAAGGCTCGGGCT	0.453																																						ENST00000360647.4																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						c.(1882-1884)cTt>cGt		zinc finger protein 148							160	173	169					3																	124951687		2203	4300	6503	SO:0001583	missense	7707				cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chr3:124951687A>C	U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"Zinc fingers, C2H2-type"	12933	protein-coding gene	gene with protein product		601897	"zinc finger protein 148 (pHZ-52)"			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.1883T>G	3.37:g.124951687A>C	ENSP00000353863:p.Leu628Arg					ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000492394.1_Missense_Mutation_p.L628R|ZNF148_ENST00000468369.1_Intron|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.L628R|ZNF148_ENST00000485866.1_Missense_Mutation_p.L628R	p.L628R	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN			9	2368	-			628					D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	ENST00000360647.4	37	c.1883T>G	CCDS3031.1	.	.	.	.	.	.	.	.	.	.	A	14.83	2.652694	0.47362	.	.	ENSG00000163848	ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	4.7	4.7	0.59300	.	0.124909	0.56097	D	0.000034	T	0.54919	0.1888	L	0.47716	1.5	0.80722	D	1	D	0.54601	0.967	P	0.49799	0.622	T	0.59716	-0.7402	10	0.59425	D	0.04	-9.609	14.3312	0.66559	1.0:0.0:0.0:0.0	.	628	Q9UQR1	ZN148_HUMAN	R	628	ENSP00000353863:L628R;ENSP00000420335:L628R;ENSP00000419322:L628R;ENSP00000420448:L628R	ENSP00000353863:L628R	L	-	2	0	ZNF148	126434377	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.761000	0.91691	1.955000	0.56771	0.482000	0.46254	CTT		0.453	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964		28	162	0	0	0	1	0	28	162					C	124951687	A	C	124951687	3	2	366	1	0	0	0	0	1	0	0	0	17731	72	3	5	505	5	ZNF148	3	124951687	Missense_Mutation	SNP	A	TCGA-ET-A39I-01A-11D-A19J-08		124951687	73070743	4	7741											
MEPCE	56257	broad.mit.edu	37	chr7	100028059	100028059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaatggctatcagccccacCggccacctggggggggcggg	17	14	1	0			TCGA-ET-A39I-01A-11D-A19J-08	TCGA-ET-A39I-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d	18c8e8c6-9edf-4421-869c-bb7d800c659e	g.chr7:100028059C>T	ENST00000310512.2	+	1	806	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	ZCWPW1_ENST00000398027.2_5'Flank|ZCWPW1_ENST00000324725.6_5'Flank|MEPCE_ENST00000414441.1_Intron|ZCWPW1_ENST00000360951.4_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	140	Gly-rich.				negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCAGCCCCACCGGCCACCTGG	0.706																																						ENST00000310512.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(418-420)Cgg>Tgg		methylphosphate capping enzyme							9	12	11					7																	100028059		1367	2907	4274	SO:0001583	missense	56257						methyltransferase activity	g.chr7:100028059C>T	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"bin3, bicoid-interacting 3, homolog (Drosophila)"	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.418C>T	7.37:g.100028059C>T	ENSP00000308546:p.Arg140Trp					MEPCE_ENST00000414441.1_Intron	p.R140W	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN			1	806	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		140			Gly-rich.		B3KP86|D6W5V7|Q9NPD4	Missense_Mutation	SNP	ENST00000310512.2	37	c.418C>T	CCDS5693.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.303377	0.60195	.	.	ENSG00000146834	ENST00000310512	.	.	.	5.26	3.06	0.35304	.	0.241298	0.33691	N	0.004649	T	0.18087	0.0434	N	0.22421	0.69	0.30935	N	0.726504	P	0.35011	0.48	B	0.23852	0.049	T	0.17258	-1.0375	9	0.72032	D	0.01	-0.0517	4.8212	0.13392	0.3346:0.5524:0.0:0.113	.	140	Q7L2J0	MEPCE_HUMAN	W	140	.	ENSP00000308546:R140W	R	+	1	2	MEPCE	99865995	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	0.811000	0.27198	1.161000	0.42604	0.561000	0.74099	CGG		0.706	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			4	9	0	0	0	1	0	4	9					T	100028059	C	T	100028059	3	4	366	1	0	0	0	0	1	0	0	0	9477	643	23	1	420	1	MEPCE	7	100028059	Missense_Mutation	SNP	C	TCGA-ET-A39I-01A-11D-A19J-08		100028059	59110604	5	7742											
ZNF777	27153	broad.mit.edu	37	chr7	149129526	149129526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcttgagcgcgtgcttggGgttgaacgtgggcccgcgtt	18	10	0	2			TCGA-ET-A39I-01A-11D-A19J-08	TCGA-ET-A39I-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d	18c8e8c6-9edf-4421-869c-bb7d800c659e	g.chr7:149129526G>A	ENST00000247930.4	-	6	2160	c.1837C>T	c.(1837-1839)Ccc>Tcc	p.P613S		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	613					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GCGTGCTTGGGGTTGAACGTG	0.672																																						ENST00000247930.4																			0				large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(1837-1839)Ccc>Tcc		zinc finger protein 777							63	74	70					7																	149129526		2165	4265	6430	SO:0001583	missense	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149129526G>A	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"Zinc fingers, C2H2-type", "-"	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.1837C>T	7.37:g.149129526G>A	ENSP00000247930:p.Pro613Ser						p.P613S	NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		6	2160	-	Melanoma(164;0.165)		613					Q8N2R2|Q8N659	Missense_Mutation	SNP	ENST00000247930.4	37	c.1837C>T	CCDS43675.1	.	.	.	.	.	.	.	.	.	.	G	7.988	0.752617	0.15778	.	.	ENSG00000196453	ENST00000247930;ENST00000314683	T	0.05786	3.39	5.02	4.13	0.48395	.	0.268702	0.26808	N	0.022385	T	0.02012	0.0063	N	0.00554	-1.385	0.33424	D	0.580264	B	0.02656	0.0	B	0.06405	0.002	T	0.26224	-1.0109	10	0.26408	T	0.33	-18.0322	11.2172	0.48833	0.0902:0.0:0.9098:0.0	.	613	Q9ULD5-2	.	S	613;356	ENSP00000247930:P613S	ENSP00000247930:P613S	P	-	1	0	ZNF777	148760459	0.932000	0.31603	0.996000	0.52242	0.590000	0.36582	1.146000	0.31589	1.109000	0.41680	0.460000	0.39030	CCC		0.672	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		42	66	0	0	0	1	0	42	66					A	149129526	G	A	149129526	3	1	366	1	0	0	0	0	1	0	0	0	18147	1232	43	2	662	2	ZNF777	7	149129526	Missense_Mutation	SNP	G	TCGA-ET-A39I-01A-11D-A19J-08	49101467	149129526	10009137	6	7743											
USP17L2	377630	broad.mit.edu	37	chr8	11996027	11996027	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatttcccatattctggagCccagcccccaccgcagcagg	9	16	1	0			TCGA-ET-A39I-01A-11D-A19J-08	TCGA-ET-A39I-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d	18c8e8c6-9edf-4421-869c-bb7d800c659e	g.chr8:11996027C>T	ENST00000333796.3	-	1	559	c.243G>A	c.(241-243)ggG>ggA	p.G81G	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	81	USP.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TATTCTGGAGCCCAGCCCCCA	0.577																																						ENST00000333796.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(241-243)ggG>ggA		ubiquitin specific peptidase 17-like family member 2							29	37	35					8																	11996027		1171	2564	3735	SO:0001819	synonymous_variant	377630				apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr8:11996027C>T	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"deubiquitinating enzyme 3"	610186	"ubiquitin specific peptidase 17-like 2"				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.243G>A	8.37:g.11996027C>T						FAM66D_ENST00000434078.2_RNA	p.G81G	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN			1	559	-			81						Silent	SNP	ENST00000333796.3	37	c.243G>A	CCDS43713.1																																																																																				0.577	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402		4	59	0	0	0	1	0	4	59					T	11996027	C	T	11996027	2	4	366	1	0	0	0	0	0	0	0	1	17045	726	26	2		2	USP17L2	8	11996027	Silent	SNP	C	TCGA-ET-A39I-01A-11D-A19J-08		11996027	134367995	7	7744											
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	14	13	0	0	rs121913233		TCGA-ET-A39I-01A-11D-A19J-08	TCGA-ET-A39I-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d	18c8e8c6-9edf-4421-869c-bb7d800c659e	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117	102	107					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)				HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R	p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		39	52	0	0	0	1	0	39	52					C	533874	T	C	533874	3	2	366	1	0	0	0	0	1	0	0	0	7348	1580	55	3	466	3	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-ET-A39I-01A-11D-A19J-08		533874	134472642	8	7745											
ATG2B	55102	broad.mit.edu	37	chr14	96794755	96794755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactgtggcaagtttctgtgGttgaagcaaggaatttaacc	11	6	1	1			TCGA-ET-A39I-01A-11D-A19J-08	TCGA-ET-A39I-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d	18c8e8c6-9edf-4421-869c-bb7d800c659e	g.chr14:96794755G>A	ENST00000359933.4	-	14	2985	c.2092C>T	c.(2092-2094)Cca>Tca	p.P698S		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	698					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AGTTTCTGTGGTTGAAGCAAG	0.358																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(2092-2094)Cca>Tca		autophagy related 2B							151	141	144					14																	96794755		1884	4123	6007	SO:0001583	missense	55102							g.chr14:96794755G>A	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.2092C>T	14.37:g.96794755G>A	ENSP00000353010:p.Pro698Ser						p.P698S	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	14	2985	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	698					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.2092C>T	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459517	0.63401	.	.	ENSG00000066739	ENST00000359933	T	0.11169	2.8	5.7	5.7	0.88788	.	0.084010	0.48767	U	0.000170	T	0.13372	0.0324	L	0.60455	1.87	0.54753	D	0.999989	P	0.42456	0.78	B	0.38106	0.265	T	0.03534	-1.1027	10	0.29301	T	0.29	.	15.3299	0.74200	0.0:0.1391:0.8609:0.0	.	698	Q96BY7	ATG2B_HUMAN	S	698	ENSP00000353010:P698S	ENSP00000353010:P698S	P	-	1	0	ATG2B	95864508	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.620000	0.83070	2.692000	0.91855	0.591000	0.81541	CCA		0.358	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		10	51	0	0	0	1	0	10	51					A	96794755	G	A	96794755	3	1	366	1	0	0	0	0	1	0	0	0	1094	1261	44	2	4260	2	ATG2B	14	96794755	Missense_Mutation	SNP	G	TCGA-ET-A39I-01A-11D-A19J-08		96794755	10554785	9	7746											
BPTF	2186	broad.mit.edu	37	chr17	65941716	65941716	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgaagttcagactcagcctGaagttcagacccaaacaact	7	12	3	4			TCGA-ET-A39I-01A-11D-A19J-08	TCGA-ET-A39I-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d	18c8e8c6-9edf-4421-869c-bb7d800c659e	g.chr17:65941716G>T	ENST00000321892.4	+	23	7331	c.7270G>T	c.(7270-7272)Gaa>Taa	p.E2424*	BPTF_ENST00000424123.3_Nonsense_Mutation_p.E2285*|BPTF_ENST00000306378.6_Nonsense_Mutation_p.E2298*|BPTF_ENST00000335221.5_Nonsense_Mutation_p.E2424*			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2424					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GACTCAGCCTGAAGTTCAGAC	0.582																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(7270-7272)Gaa>Taa		bromodomain PHD finger transcription factor							100	92	95					17																	65941716		2203	4300	6503	SO:0001587	stop_gained	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65941716G>T	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.7270G>T	17.37:g.65941716G>T	ENSP00000315454:p.Glu2424*					BPTF_ENST00000424123.3_Nonsense_Mutation_p.E2285*|BPTF_ENST00000306378.6_Nonsense_Mutation_p.E2298*|BPTF_ENST00000335221.5_Nonsense_Mutation_p.E2424*	p.E2424*			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		23	7331	+	all_cancers(12;6e-11)		2424					Q6NX67|Q7Z7D6|Q9UIG2	Nonsense_Mutation	SNP	ENST00000321892.4	37	c.7270G>T		.	.	.	.	.	.	.	.	.	.	G	46	12.354525	0.99660	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-17.5438	19.1013	0.93275	0.0:0.0:1.0:0.0	.	.	.	.	X	2298;2424;2424	.	ENSP00000307208:E2298X	E	+	1	0	BPTF	63372178	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	3.290000	0.51755	2.514000	0.84764	0.650000	0.86243	GAA		0.582	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		3	19	1	0	0.004672	1	0.00482271	3	19					T	65941716	G	T	65941716	4	4	366	1	0	0	0	0	0	1	0	0	1495	1291	45	4	7360	4	BPTF	17	65941716	Nonsense_Mutation	SNP	G	TCGA-ET-A39I-01A-11D-A19J-08		65941716	15253494	10	7747											
KIAA1632	57724	broad.mit.edu	37	chr18	43469775	43469775	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacttacgtgatcaagtttTctgcatgtacagcagcttcc	7	10	2	1			TCGA-ET-A39I-01A-11D-A19J-08	TCGA-ET-A39I-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d	18c8e8c6-9edf-4421-869c-bb7d800c659e	g.chr18:43469775T>C	ENST00000282041.5	-	28	4974	c.4940A>G	c.(4939-4941)gAa>gGa	p.E1647G	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1647					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GATCAAGTTTTCTGCATGTAC	0.398																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(4939-4941)gAa>gGa		ectopic P-granules autophagy protein 5 homolog (C. elegans)							147	136	139					18																	43469775		1914	4139	6053	SO:0001583	missense	57724				autophagy			g.chr18:43469775T>C	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.4940A>G	18.37:g.43469775T>C	ENSP00000282041:p.Glu1647Gly					EPG5_ENST00000585906.1_5'UTR	p.E1647G	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			28	4974	-			1647					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.4940A>G	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	T	28.5	4.922120	0.92319	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.13901	2.55	6.02	6.02	0.97574	.	.	.	.	.	T	0.36826	0.0981	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.05582	-1.0876	9	0.87932	D	0	-13.1792	16.5446	0.84426	0.0:0.0:0.0:1.0	.	1647	Q9HCE0	EPG5_HUMAN	G	1647;522	ENSP00000282041:E1647G	ENSP00000282041:E1647G	E	-	2	0	EPG5	41723773	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.703000	0.84585	2.311000	0.77944	0.533000	0.62120	GAA		0.398	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		50	69	0	0	0	1	0	50	69					C	43469775	T	C	43469775	3	2	366	1	0	0	0	0	1	0	0	0	8249	1783	62	3	2867	3	KIAA1632	18	43469775	Missense_Mutation	SNP	T	TCGA-ET-A39I-01A-11D-A19J-08		43469775	34607473	11	7748											
MLLT1	4298	broad.mit.edu	37	chr19	6230657	6230657	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttctcgcagcgcaggtggTtcacgggcgggttgccttcc	15	13	2	0			TCGA-ET-A39I-01A-11D-A19J-08	TCGA-ET-A39I-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d	18c8e8c6-9edf-4421-869c-bb7d800c659e	g.chr19:6230657T>C	ENST00000252674.7	-	4	507	c.344A>G	c.(343-345)aAc>aGc	p.N115S		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	115					negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						GCGCAGGTGGTTCACGGGCGG	0.617			T	MLL	AL																																	ENST00000252674.7				Dom	yes		19	19p13.3	4298	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"			L	MLL		AL		0				endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						c.(343-345)aAc>aGc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1							168	168	168					19																	6230657		2203	4300	6503	SO:0001583	missense	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6230657T>C		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.344A>G	19.37:g.6230657T>C	ENSP00000252674:p.Asn115Ser						p.N115S	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN			4	507	-			115					Q14768	Missense_Mutation	SNP	ENST00000252674.7	37	c.344A>G	CCDS12160.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.329092	0.81690	.	.	ENSG00000130382	ENST00000252674	.	.	.	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.64832	0.2634	M	0.69248	2.105	0.58432	D	0.999999	B	0.28783	0.222	B	0.37091	0.241	T	0.67233	-0.5722	9	0.54805	T	0.06	-55.4765	13.1576	0.59527	0.0:0.0:0.0:1.0	.	115	Q03111	ENL_HUMAN	S	115	.	ENSP00000252674:N115S	N	-	2	0	MLLT1	6181657	1.000000	0.71417	0.994000	0.49952	0.818000	0.46254	7.727000	0.84838	1.966000	0.57179	0.533000	0.62120	AAC		0.617	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		61	93	0	0	0	1	0	61	93					C	6230657	T	C	6230657	3	2	366	1	0	0	0	0	1	0	0	0	9625	1725	60	3	1371	3	MLLT1	19	6230657	Missense_Mutation	SNP	T	TCGA-ET-A39I-01A-11D-A19J-08		6230657	52898326	12	7749											
SLC6A16	28968	broad.mit.edu	37	chr19	49812977	49812977	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagcaaagaaagaagggcagGaccagactgtagactggtga	14	7	0	5			TCGA-ET-A39I-01A-11D-A19J-08	TCGA-ET-A39I-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d	18c8e8c6-9edf-4421-869c-bb7d800c659e	g.chr19:49812977G>A	ENST00000335875.4	-	5	1048	c.807C>T	c.(805-807)gtC>gtT	p.V269V	SLC6A16_ENST00000454748.3_Silent_p.V269V|MIR4324_ENST00000584846.1_RNA	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	269					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		AGAAGGGCAGGACCAGACTGT	0.502																																						ENST00000454748.3																			0				NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(805-807)gtC>gtT		solute carrier family 6, member 16							84	85	85					19																	49812977		1964	4156	6120	SO:0001819	synonymous_variant	28968					integral to membrane|intracellular	neurotransmitter:sodium symporter activity	g.chr19:49812977G>A	AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"Solute carriers"	13622	protein-coding gene	gene with protein product	"NTT5 protein"	607972	"solute carrier family 6 (neurotransmitter transporter), member 16"			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.807C>T	19.37:g.49812977G>A						SLC6A16_ENST00000335875.4_Silent_p.V269V	p.V269V			Q9GZN6	S6A16_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)	5	1008	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	269					Q8IYV4|Q9Y5I9	Silent	SNP	ENST00000335875.4	37	c.807C>T	CCDS42590.1																																																																																				0.502	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037		23	43	0	0	0	1	0	23	43					A	49812977	G	A	49812977	2	1	366	1	0	0	0	0	0	0	0	1	14679	1161	41	2		2	SLC6A16	19	49812977	Silent	SNP	G	TCGA-ET-A39I-01A-11D-A19J-08	43582320	49812977	9316006	13	7750											
TGM6	343641	broad.mit.edu	37	chr20	2413163	2413163	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	accctggagcctcaggagagGgcctcagtccagtttgacat	12	12	2	2	rs138807504	byFrequency	TCGA-ET-A39I-01A-11D-A19J-08	TCGA-ET-A39I-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d	18c8e8c6-9edf-4421-869c-bb7d800c659e	g.chr20:2413163G>C	ENST00000202625.2	+	13	2056	c.1995G>C	c.(1993-1995)agG>agC	p.R665S	TGM6_ENST00000381423.1_Missense_Mutation_p.G621R	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	665					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CTCAGGAGAGGGCCTCAGTCC	0.592													G|||	7	0.00139776	0	0	5008	,	,		19380	0		0.001	False		,,,				2504	0.0061					ENST00000202625.2																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52						c.(1993-1995)agG>agC		transglutaminase 6	L-Glutamine(DB00130)	G	SER/ARG	1,4405	2.1+/-5.4	0,1,2202	105	87	93		1995	1.9	0.6	20	dbSNP_134	93	20,8580	14.0+/-48.4	0,20,4280	yes	missense	TGM6	NM_198994.2	110	0,21,6482	CC,CG,GG		0.2326,0.0227,0.1615	benign	665/707	2413163	21,12985	2203	4300	6503	SO:0001583	missense	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2413163G>C	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"Transglutaminases"	16255	protein-coding gene	gene with protein product	"spinocerebellar ataxia 35"	613900	"transglutaminase 3-like"	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1995G>C	20.37:g.2413163G>C	ENSP00000202625:p.Arg665Ser					TGM6_ENST00000381423.1_Missense_Mutation_p.G621R	p.R665S	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN			13	2056	+			665					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	c.1995G>C	CCDS13025.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	8.426|8.426	0.847583|0.847583	0.17034|0.17034	2.27E-4|2.27E-4	0.002326|0.002326	ENSG00000166948|ENSG00000166948	ENST00000381423|ENST00000202625	T|T	0.79247|0.66099	-1.25|-0.19	4.87|4.87	1.86|1.86	0.25419|0.25419	.|Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	.|0.634407	.|0.17578	.|N	.|0.169227	T|T	0.54175|0.54175	0.1842|0.1842	L|L	0.58101|0.58101	1.795|1.795	0.19575|0.19575	N|N	0.999969|0.999969	B|B	0.29162|0.24317	0.235|0.101	B|B	0.37091|0.28385	0.241|0.089	T|T	0.46527|0.46527	-0.9185|-0.9185	9|10	0.52906|0.37606	T|T	0.07|0.19	-9.4754|-9.4754	6.8596|6.8596	0.24060|0.24060	0.2898:0.0:0.7102:0.0|0.2898:0.0:0.7102:0.0	.|.	621|665	O95932-2|O95932	.|TGM3L_HUMAN	R|S	621|665	ENSP00000370831:G621R|ENSP00000202625:R665S	ENSP00000370831:G621R|ENSP00000202625:R665S	G|R	+|+	1|3	0|2	TGM6|TGM6	2361163|2361163	0.016000|0.016000	0.18221|0.18221	0.578000|0.578000	0.28575|0.28575	0.843000|0.843000	0.47879|0.47879	-0.028000|-0.028000	0.12350|0.12350	0.342000|0.342000	0.23796|0.23796	-0.137000|-0.137000	0.14449|0.14449	GGC|AGG		0.592	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		4	68	0	0	0	1	0	4	68					C	2413163	G	C	2413163	3	2	366	1	0	0	0	0	1	0	0	0	15831	1223	43	4	2045	4	TGM6	20	2413163	Missense_Mutation	SNP	G	TCGA-ET-A39I-01A-11D-A19J-08		2413163	60612357	14	7751											
SPTA1	6708	broad.mit.edu	37	chr1	158583510	158583510	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacccttagtcttgttcctaCctccctggatccacagcatc	6	16	1	0			TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr1:158583510C>T	ENST00000368147.4	-	50	7170		c.e50+1		SPTA1_ENST00000485680.1_5'Flank	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1						actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTGTTCCTACCTCCCTGGAT	0.493																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.e50+1		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							67	66	66					1																	158583510		1942	4135	6077	SO:0001630	splice_region_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158583510C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6989+1G>A	1.37:g.158583510C>T						SPTA1_ENST00000368147.3_Splice_Site		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			50	7170	-	all_hematologic(112;0.0378)							Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Splice_Site	SNP	ENST00000368147.4	37		CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.965407	0.53507	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2641	0.87081	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SPTA1	156850134	1.000000	0.71417	1.000000	0.80357	0.447000	0.32167	6.900000	0.75687	2.661000	0.90470	0.650000	0.86243	.		0.493	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	Intron	27	43	0	0	0	0.008361	0	27	43					T	158583510	C	T	158583510	5	4	367	1	0	0	0	0	0	0	1	0	15115	521	18	2	281	2	SPTA1	1	158583510	Splice_Site	SNP	C	TCGA-ET-A39J-01A-11D-A19J-08		158583510	90667111	1	7752											
IL1R1	3554	broad.mit.edu	37	chr2	102792036	102792036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttgtgtttaaagtcttgCctgaggtcttggaaaaacag	10	5	2	1			TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr2:102792036C>T	ENST00000410023.1	+	11	1552	c.1234C>T	c.(1234-1236)Cct>Tct	p.P412S	AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000409929.1_Missense_Mutation_p.P381S|IL1R1_ENST00000233946.3_Missense_Mutation_p.P412S|IL1R1_ENST00000409288.1_Missense_Mutation_p.P412S|IL1R1_ENST00000409329.1_Missense_Mutation_p.P412S|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000424272.1_Missense_Mutation_p.P412S			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	412	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	TAAAGTCTTGCCTGAGGTCTT	0.413																																						ENST00000410023.1																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19						c.(1234-1236)Cct>Tct		interleukin 1 receptor, type I	Anakinra(DB00026)						364	331	342					2																	102792036		2203	4300	6503	SO:0001583	missense	3554				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding	g.chr2:102792036C>T	M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA		1833184, 10191101	Standard	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.1234C>T	2.37:g.102792036C>T	ENSP00000386380:p.Pro412Ser					IL1R1_ENST00000233946.3_Missense_Mutation_p.P412S|IL1R1_ENST00000424272.1_Missense_Mutation_p.P412S|IL1R1_ENST00000409288.1_Missense_Mutation_p.P412S|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000409929.1_Missense_Mutation_p.P381S|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000409329.1_Missense_Mutation_p.P412S	p.P412S			P14778	IL1R1_HUMAN			11	1552	+			412			TIR.		Q587I7	Missense_Mutation	SNP	ENST00000410023.1	37	c.1234C>T	CCDS2055.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501176	0.85176	.	.	ENSG00000115594	ENST00000409929;ENST00000424272;ENST00000409329;ENST00000428279;ENST00000409288;ENST00000410023;ENST00000233946	T;T;T;T;T;T;T	0.08546	3.08;3.08;3.08;3.08;3.08;3.08;3.08	5.24	5.24	0.73138	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.051428	0.85682	D	0.000000	T	0.37865	0.1019	M	0.89287	3.02	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.41251	-0.9519	10	0.87932	D	0	.	19.1943	0.93681	0.0:1.0:0.0:0.0	.	381;412;412	B8ZZW4;P14778;B8ZZ73	.;IL1R1_HUMAN;.	S	381;412;412;268;412;412;412	ENSP00000386776:P381S;ENSP00000415366:P412S;ENSP00000387131:P412S;ENSP00000410461:P268S;ENSP00000386478:P412S;ENSP00000386380:P412S;ENSP00000233946:P412S	ENSP00000233946:P412S	P	+	1	0	IL1R1	102158468	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.608000	0.67654	2.607000	0.88179	0.563000	0.77884	CCT		0.413	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253299.1			116	193	0	0	0	0.00361	0	116	193					T	102792036	C	T	102792036	3	4	367	1	0	0	0	0	1	0	0	0	7658	739	26	2	1268	2	IL1R1	2	102792036	Missense_Mutation	SNP	C	TCGA-ET-A39J-01A-11D-A19J-08		102792036	140407337	2	7753											
SLC26A6	65010	broad.mit.edu	37	chr3	48668079	48668079	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctcctgtaccaggctccgAgacatagagcaactcacggg	10	14	2	2			TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr3:48668079A>G	ENST00000395550.2	-	10	1256	c.1209T>C	c.(1207-1209)tcT>tcC	p.S403S	SLC26A6_ENST00000455886.2_Silent_p.S367S|SLC26A6_ENST00000383733.3_Silent_p.S403S|SLC26A6_ENST00000358747.6_Silent_p.S382S|SLC26A6_ENST00000337000.8_Silent_p.S296S|SLC26A6_ENST00000482282.1_5'Flank|SLC26A6_ENST00000420764.2_Silent_p.S403S			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	403					angiotensin-activated signaling pathway (GO:0038166)|anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular response to cAMP (GO:0071320)|cellular response to fructose stimulus (GO:0071332)|cellular response to interferon-gamma (GO:0071346)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|epithelial fluid transport (GO:0042045)|formate transport (GO:0015724)|intestinal absorption (GO:0050892)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|mannitol transport (GO:0015797)|oxalate transport (GO:0019532)|oxalic acid secretion (GO:0046724)|positive regulation of dipeptide transmembrane transport (GO:2001150)|protein kinase C signaling (GO:0070528)|regulation of intracellular pH (GO:0051453)|sperm capacitation (GO:0048240)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transepithelial chloride transport (GO:0030321)|transepithelial transport (GO:0070633)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|chloride channel complex (GO:0034707)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle membrane (GO:0012506)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|chloride transmembrane transporter activity (GO:0015108)|efflux transmembrane transporter activity (GO:0015562)|formate efflux transmembrane transporter activity (GO:0015660)|formate transmembrane transporter activity (GO:0015499)|formate uptake transmembrane transporter activity (GO:0015659)|oxalate transmembrane transporter activity (GO:0019531)|PDZ domain binding (GO:0030165)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)		SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		CCAGGCTCCGAGACATAGAGC	0.617																																					NSCLC(13;369 479 28271 30152 44026)	ENST00000358747.6																		SLC26A6/PRKAR2A(2)	0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19						c.(1144-1146)tcT>tcC		solute carrier family 26 (anion exchanger), member 6							38	43	42					3																	48668079		1997	4166	6163	SO:0001819	synonymous_variant	65010							g.chr3:48668079A>G	AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697		"Solute carriers"	14472	protein-coding gene	gene with protein product	"pendrin-like protein 1", "pendrin L1", "sulfate anion transporter", "anion transporter 1"	610068	"solute carrier family 26, member 6"			11087667, 11247665	Standard	NM_022911		Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000395550.2:c.1209T>C	3.37:g.48668079A>G						SLC26A6_ENST00000395550.2_Silent_p.S403S|SLC26A6_ENST00000383733.3_Silent_p.S403S|SLC26A6_ENST00000420764.2_Silent_p.S403S|SLC26A6_ENST00000455886.2_Silent_p.S367S|SLC26A6_ENST00000337000.8_Silent_p.S296S	p.S382S	NM_001040454.1	NP_001035544.1				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)	9	1396	-								B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Silent	SNP	ENST00000395550.2	37	c.1146T>C	CCDS43087.1																																																																																				0.617	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345040.1	NM_022911		2	2	0	0	0	0.004672	0	2	2					G	48668079	A	G	48668079	2	3	367	1	0	0	0	0	0	0	0	1	14521	291	11	3		3	SLC26A6	3	48668079	Silent	SNP	A	TCGA-ET-A39J-01A-11D-A19J-08		48668079	149354351	3	7754											
HAUS3	79441	broad.mit.edu	37	chr4	2241959	2241959	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgtctgtatatctaaaagttGaaaattgtcttcatttgaac	6	5	4	2			TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr4:2241959G>C	ENST00000243706.4	-	2	944	c.715C>G	c.(715-717)Caa>Gaa	p.Q239E	HAUS3_ENST00000443786.2_Missense_Mutation_p.Q239E|HAUS3_ENST00000506763.1_Missense_Mutation_p.Q239E|POLN_ENST00000511885.2_Intron|POLN_ENST00000515357.1_Intron	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	239					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TCTAAAAGTTGAAAATTGTCT	0.373																																						ENST00000243706.4																			0				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(715-717)Caa>Gaa		HAUS augmin-like complex, subunit 3							61	61	61					4																	2241959		2203	4298	6501	SO:0001583	missense	79441				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr4:2241959G>C	AF040964	CCDS33941.1	4p16.3	2013-10-11	2009-04-20	2009-04-20	ENSG00000214367	ENSG00000214367		"HAUS augmin-like complex subunits"	28719	protein-coding gene	gene with protein product		613430	"chromosome 4 open reading frame 15"	C4orf15		19427217, 19812674	Standard	NM_024511		Approved	MGC4701, IT1, dgt3	uc003ges.1	Q68CZ6		ENST00000243706.4:c.715C>G	4.37:g.2241959G>C	ENSP00000243706:p.Gln239Glu					POLN_ENST00000515357.1_Intron|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000506763.1_Missense_Mutation_p.Q239E|HAUS3_ENST00000443786.2_Missense_Mutation_p.Q239E	p.Q239E	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN			2	944	-			239					B4DF64|O43606|Q8TAZ5|Q9BTJ9	Missense_Mutation	SNP	ENST00000243706.4	37	c.715C>G	CCDS33941.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630464	0.46944	.	.	ENSG00000214367	ENST00000506763;ENST00000243706;ENST00000443786	T;T	0.42900	0.96;0.96	5.29	5.29	0.74685	.	0.073993	0.56097	U	0.000033	T	0.43344	0.1243	L	0.56396	1.775	0.48395	D	0.99964	P;P	0.42078	0.77;0.77	B;B	0.41691	0.364;0.237	T	0.30679	-0.9970	10	0.33940	T	0.23	-21.1387	15.4864	0.75571	0.0:0.1386:0.8614:0.0	.	239;239	B4DF64;Q68CZ6	.;HAUS3_HUMAN	E	239	ENSP00000243706:Q239E;ENSP00000392903:Q239E	ENSP00000243706:Q239E	Q	-	1	0	HAUS3	2211757	1.000000	0.71417	0.998000	0.56505	0.924000	0.55760	6.260000	0.72502	2.612000	0.88384	0.655000	0.94253	CAA		0.373	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357446.1	NM_024511		12	25	0	0	0	0.000978	0	12	25					C	2241959	G	C	2241959	3	2	367	1	0	0	0	0	1	0	0	0	6967	1299	45	4	1112	4	HAUS3	4	2241959	Missense_Mutation	SNP	G	TCGA-ET-A39J-01A-11D-A19J-08		2241959	188912317	4	7755											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		39	43	0	0	0	0.00623	0	39	43					T	140453136	A	T	140453136	3	4	367	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A39J-01A-11D-A19J-08		140453136	18685527	5	7756											
CALHM2	51063	broad.mit.edu	37	chr10	105209325	105209325	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagcacagacataagcctcaCcacgcagcagggagatgaca	11	12	1	3			TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr10:105209325C>G	ENST00000260743.5	-	3	897	c.374G>C	c.(373-375)gGt>gCt	p.G125A	RP11-225H22.7_ENST00000608063.1_RNA|CALHM2_ENST00000369788.3_Missense_Mutation_p.G125A|CALHM2_ENST00000393235.1_Missense_Mutation_p.G125A|CALHM2_ENST00000494180.1_5'Flank	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	125					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						ATAAGCCTCACCACGCAGCAG	0.612																																						ENST00000393235.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						c.(373-375)gGt>gCt		calcium homeostasis modulator 2							92	77	82					10																	105209325		2203	4300	6503	SO:0001583	missense	51063					integral to membrane		g.chr10:105209325C>G	BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172			23493	protein-coding gene	gene with protein product		612235	"family with sequence similarity 26, member B"	FAM26B		18585350	Standard	NM_015916		Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.374G>C	10.37:g.105209325C>G	ENSP00000260743:p.Gly125Ala					CALHM2_ENST00000369788.3_Missense_Mutation_p.G125A|CALHM2_ENST00000260743.5_Missense_Mutation_p.G125A	p.G125A			Q9HA72	CAHM2_HUMAN			3	1571	-			125					D3DR94|O95893|Q6ZUV9	Missense_Mutation	SNP	ENST00000260743.5	37	c.374G>C	CCDS7549.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835497	0.91117	.	.	ENSG00000138172	ENST00000369788;ENST00000260743;ENST00000393235	T;T;T	0.34072	1.38;1.38;1.38	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.63141	0.2486	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.91635	0.999;0.999;0.986	T	0.63404	-0.6645	10	0.42905	T	0.14	-34.8506	18.9703	0.92712	0.0:1.0:0.0:0.0	.	125;125;125	Q9HA72-2;Q9HA72-3;Q9HA72	.;.;CAHM2_HUMAN	A	125	ENSP00000358803:G125A;ENSP00000260743:G125A;ENSP00000376927:G125A	ENSP00000260743:G125A	G	-	2	0	CALHM2	105199315	1.000000	0.71417	0.462000	0.27118	0.996000	0.88848	6.994000	0.76251	2.474000	0.83562	0.561000	0.74099	GGT		0.612	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050159.1	NM_015916		23	43	0	0	0	0.00278	0	23	43					G	105209325	C	G	105209325	3	3	367	1	0	0	0	0	1	0	0	0	2583	507	18	4	605	4	CALHM2	10	105209325	Missense_Mutation	SNP	C	TCGA-ET-A39J-01A-11D-A19J-08		105209325	30325422	6	7757											
PHLDB1	23187	broad.mit.edu	37	chr11	118498713	118498713	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctccagtccctgctcccCgaaacaagattggcacactc	7	17	0	1			TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr11:118498713C>T	ENST00000361417.2	+	7	1585	c.1174C>T	c.(1174-1176)Cga>Tga	p.R392*	PHLDB1_ENST00000356063.5_Nonsense_Mutation_p.R392*	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	392										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCCTGCTCCCCGAAACAAGAT	0.612																																						ENST00000361417.2																			0				breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(1174-1176)Cga>Tga		pleckstrin homology-like domain, family B, member 1							95	93	94					11																	118498713		2200	4295	6495	SO:0001587	stop_gained	23187							g.chr11:118498713C>T		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"Pleckstrin homology (PH) domain containing"	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.1174C>T	11.37:g.118498713C>T	ENSP00000354498:p.Arg392*					PHLDB1_ENST00000356063.5_Nonsense_Mutation_p.R392*	p.R392*	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	7	1585	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	392					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Nonsense_Mutation	SNP	ENST00000361417.2	37	c.1174C>T	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	C	40	7.999809	0.98602	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000356063	.	.	.	5.32	5.32	0.75619	.	0.298102	0.31797	N	0.007045	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5117	13.6152	0.62103	0.0:0.8442:0.1558:0.0	.	.	.	.	X	392;151;392	.	ENSP00000348359:R392X	R	+	1	2	PHLDB1	118003923	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	1.898000	0.39809	2.769000	0.95229	0.563000	0.77884	CGA		0.612	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		7	114	0	0	0	0.001984	0	7	114					T	118498713	C	T	118498713	4	4	367	1	0	0	0	0	0	1	0	0	11851	644	23	1	1192	1	PHLDB1	11	118498713	Nonsense_Mutation	SNP	C	TCGA-ET-A39J-01A-11D-A19J-08		118498713	16507803	7	7758											
EMG1	10436	broad.mit.edu	37	chr12	7080212	7080213	+	Splice_Site	INS	-	-	C													acaagatcggaggccgtagtINSttattgtggtgctggaaggg					rs11428482|rs374779752|rs17857448		TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr12:7080212_7080213insC	ENST00000261406.6	+	2	267_268	c.124_125insC	c.(124-126)ttt>tCtt	p.F42fs	PHB2_ENST00000544134.1_5'Flank|EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000546111.1_5'Flank|PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000535923.1_5'Flank|PHB2_ENST00000542912.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		GAGGCCGTAGTTTATTGTGGTG	0.569																																						ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3746,4		1873,0,2						5.4	1.0		dbSNP_120	28	7902,2		3951,0,1	no	frameshift	EMG1	NM_006331.7		5824,0,3	A1A1,A1R,RR		0.0253,0.1067,0.0515				11648,6				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080212_7080213insC	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"EMG1 nucleolar protein homolog (S. cerevisiae)"			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->C	12.37:g.7080212_7080213insC						U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA				Q92979	NEP1_HUMAN			0	157_158	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Frame_Shift_Ins	9	7						9	7	---	---	---	---	C	7080213	-	C	7080212	8	5	367	1	0	1	1	0	0	0	1	0	5090	1722	60	0	128	0	EMG1	12	7080212	Splice_Site	INS	-	TCGA-ET-A39J-01A-11D-A19J-08		7080212	126771683	8	7759											
DYNLL1	8655	broad.mit.edu	37	chr12	120934286	120934286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaagagatgcaacaggactCggtggagtgcgctactcagg	16	8	1	1			TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr12:120934286C>T	ENST00000392509.2	+	2	323	c.62C>T	c.(61-63)tCg>tTg	p.S21L	DYNLL1_ENST00000548214.1_Missense_Mutation_p.S21L|DYNLL1-AS1_ENST00000500741.2_RNA|DYNLL1_ENST00000548342.1_Missense_Mutation_p.S21L|DYNLL1_ENST00000242577.6_Missense_Mutation_p.S21L|DYNLL1_ENST00000552870.1_Missense_Mutation_p.S21L|DYNLL1_ENST00000550178.1_Missense_Mutation_p.S21L|DYNLL1_ENST00000392508.2_Missense_Mutation_p.S21L|DYNLL1_ENST00000550845.1_Missense_Mutation_p.S21L|DYNLL1_ENST00000549989.1_Missense_Mutation_p.S21L	NM_001037494.1	NP_001032583.1	P63167	DYL1_HUMAN	dynein, light chain, LC8-type 1	21					actin cytoskeleton organization (GO:0030036)|anatomical structure morphogenesis (GO:0009653)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic process (GO:0006915)|female gamete generation (GO:0007292)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	motor activity (GO:0003774)|nitric-oxide synthase regulator activity (GO:0030235)					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAACAGGACTCGGTGGAGTGC	0.557																																						ENST00000550845.1																			0											c.(61-63)tCg>tTg		dynein, light chain, LC8-type 1							112	109	110					12																	120934286		2203	4300	6503	SO:0001583	missense	8655				actin cytoskeleton organization|activation of pro-apoptotic gene products|anatomical structure morphogenesis|female gamete generation|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|microtubule-based process|negative regulation of phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	centrosome|cytoplasmic dynein complex|cytosol|microtubule|mitochondrion|nucleus|plasma membrane	motor activity|protein binding	g.chr12:120934286C>T	U32944	CCDS9200.1	12q24.23	2013-05-30	2005-11-25	2005-11-25	ENSG00000088986	ENSG00000088986		"Cytoplasmic dyneins"	15476	protein-coding gene	gene with protein product		601562	"dynein, cytoplasmic, light polypeptide 1"	DNCL1		8628263, 8864115, 16260502	Standard	NM_001037494		Approved	hdlc1, DLC1, PIN, LC8, DLC8	uc001tym.3	P63167	OTTHUMG00000169368	ENST00000392509.2:c.62C>T	12.37:g.120934286C>T	ENSP00000376297:p.Ser21Leu					DYNLL1_ENST00000548214.1_Missense_Mutation_p.S21L|DYNLL1_ENST00000242577.6_Missense_Mutation_p.S21L|DYNLL1_ENST00000552870.1_Missense_Mutation_p.S21L|DYNLL1_ENST00000550178.1_Missense_Mutation_p.S21L|DYNLL1_ENST00000549989.1_Missense_Mutation_p.S21L|DYNLL1_ENST00000392508.2_Missense_Mutation_p.S21L|DYNLL1_ENST00000392509.2_Missense_Mutation_p.S21L|DYNLL1_ENST00000548342.1_Missense_Mutation_p.S21L	p.S21L			P63167	DYL1_HUMAN			2	186	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		21					Q15701	Missense_Mutation	SNP	ENST00000392509.2	37	c.62C>T	CCDS9200.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562635	0.86335	.	.	ENSG00000088986	ENST00000392509;ENST00000549649;ENST00000548342;ENST00000242577;ENST00000548214;ENST00000392508;ENST00000550178;ENST00000550845;ENST00000549989;ENST00000552870	.	.	.	5.4	5.4	0.78164	.	0.054542	0.64402	D	0.000001	T	0.59046	0.2165	.	.	.	0.47094	D	0.999317	B	0.02656	0.0	B	0.10450	0.005	T	0.55231	-0.8173	8	0.56958	D	0.05	.	19.6014	0.95563	0.0:1.0:0.0:0.0	.	21	P63167	DYL1_HUMAN	L	21	.	ENSP00000242577:S21L	S	+	2	0	DYNLL1	119418669	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.362000	0.79507	2.713000	0.92767	0.549000	0.68633	TCG		0.557	DYNLL1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403709.1	NM_003746		33	67	0	0	0	0.002836	0	33	67					T	120934286	C	T	120934286	3	4	367	1	0	0	0	0	1	0	0	0	4848	893	31	1	64	1	DYNLL1	12	120934286	Missense_Mutation	SNP	C	TCGA-ET-A39J-01A-11D-A19J-08	113854074	120934286	12917609	9	7760											
SPTB	6710	broad.mit.edu	37	chr14	65266617	65266617	+	Frame_Shift_Del	DEL	A	A	-													gctagcccgctgtacttttcAatcatcttctcagtctcaat							TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr14:65266617delA	ENST00000389721.5	-	8	944	c.912delT	c.(910-912)attfs	p.I304fs	SPTB_ENST00000556626.1_Frame_Shift_Del_p.I304fs|SPTB_ENST00000542895.1_Frame_Shift_Del_p.I304fs|SPTB_ENST00000389722.3_Frame_Shift_Del_p.I304fs|SPTB_ENST00000389720.3_Frame_Shift_Del_p.I304fs	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	304					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGTACTTTTCAATCATCTTCT	0.498											OREG0022735	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(910-912)atfs		spectrin, beta, erythrocytic							157	140	146					14																	65266617		2203	4300	6503	SO:0001589	frameshift_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65266617delA		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.912delT	14.37:g.65266617delA	ENSP00000374371:p.Ile304fs		OREG0022735	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1082	SPTB_ENST00000389720.3_Frame_Shift_Del_p.I304fs|SPTB_ENST00000542895.1_Frame_Shift_Del_p.I304fs|SPTB_ENST00000389721.5_Frame_Shift_Del_p.I304fs|SPTB_ENST00000556626.1_Frame_Shift_Del_p.I304fs	p.I304fs	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	8	965	-		all_lung(585;4.15e-09)	304					Q15510|Q15519	Frame_Shift_Del	DEL	ENST00000389721.5	37	c.912delT	CCDS32100.1																																																																																				0.498	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			39	89						39	89	---	---	---	---	-	65266617	A	-	65266617	7	5	367	1	0	1	0	1	0	0	0	0	15117	126	5	0	6255	0	SPTB	14	65266617	Frame_Shift_Del	DEL	A	TCGA-ET-A39J-01A-11D-A19J-08		65266617	42082923	10	7761											
ACOT2	10965	broad.mit.edu	37	chr14	74036498	74036498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggcggctgctgtgccagaCgcggcacgagcgctacttcc	15	15	0	1			TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr14:74036498C>T	ENST00000238651.5	+	1	736	c.554C>T	c.(553-555)aCg>aTg	p.T185M	ACOT2_ENST00000538782.1_Intron	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	185					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		CTGTGCCAGACGCGGCACGAG	0.736																																						ENST00000238651.5																			0				breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(553-555)aCg>aTg		acyl-CoA thioesterase 2							8	8	8					14																	74036498		1964	3898	5862	SO:0001583	missense	10965				acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding	g.chr14:74036498C>T	AY005822, AK001939	CCDS9816.1	14q24.3	2013-09-20			ENSG00000119673	ENSG00000119673		"Acyl CoA thioesterases"	18431	protein-coding gene	gene with protein product	"mitochondrial acyl-CoA thioesterase 1"	609972				16103133, 16940157	Standard	NM_006821		Approved	Mte1, ZAP128	uc001xon.5	P49753	OTTHUMG00000171608	ENST00000238651.5:c.554C>T	14.37:g.74036498C>T	ENSP00000238651:p.Thr185Met					ACOT2_ENST00000538782.1_Intron	p.T185M	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)	1	736	+			185					Q3I5F8|Q53EK4|Q9NUX4	Missense_Mutation	SNP	ENST00000238651.5	37	c.554C>T	CCDS9816.1	.	.	.	.	.	.	.	.	.	.	c	7.075	0.568989	0.13560	.	.	ENSG00000119673	ENST00000238651	T	0.70869	-0.52	3.38	1.44	0.22558	Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase (1);	0.564702	0.18389	N	0.142713	T	0.67116	0.2859	M	0.61703	1.905	0.09310	N	1	P	0.40619	0.724	B	0.42062	0.374	T	0.60449	-0.7261	10	0.62326	D	0.03	-2.5748	9.7895	0.40697	0.0:0.8124:0.0:0.1876	.	185	P49753	ACOT2_HUMAN	M	185	ENSP00000238651:T185M	ENSP00000238651:T185M	T	+	2	0	ACOT2	73106251	0.000000	0.05858	0.012000	0.15200	0.002000	0.02628	0.072000	0.14617	0.533000	0.28675	-0.642000	0.03964	ACG		0.736	ACOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414435.1	NM_006821		3	9	0	0	0	0.000248	0	3	9					T	74036498	C	T	74036498	3	4	367	1	0	0	0	0	1	0	0	0	152	536	19	1	556	1	ACOT2	14	74036498	Missense_Mutation	SNP	C	TCGA-ET-A39J-01A-11D-A19J-08	8769881	74036498	33313042	11	7762											
HIVEP3	59269	broad.mit.edu	37	chr1	42050343	42050343	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggctctcttgggtggcagcTgtgccgctgcctgggtatgg	18	10	1	0	rs147545420	byFrequency	TCGA-ET-A39K-01A-11D-A19J-08	TCGA-ET-A39K-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ea309c8-f103-4eec-a8bb-329c17387599	2b6cc855-e787-426f-9121-ddbcad17e997	g.chr1:42050343T>A	ENST00000372583.1	-	4	1011	c.126A>T	c.(124-126)acA>acT	p.T42T	HIVEP3_ENST00000372584.1_Silent_p.T42T|HIVEP3_ENST00000247584.5_Silent_p.T42T|HIVEP3_ENST00000429157.2_Silent_p.T42T	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	42					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)				GGGTGGCAGCTGTGCCGCTGC	0.627													T|||	5	0.000998403	0	0	5008	,	,		15928	0		0.005	False		,,,				2504	0					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.(124-126)acA>acT		human immunodeficiency virus type I enhancer binding protein 3		T	,	4,4402	8.1+/-20.4	0,4,2199	88	105	99		126,126	-9.6	0.0	1	dbSNP_134	99	10,8590	7.7+/-29.5	0,10,4290	no	coding-synonymous,coding-synonymous	HIVEP3	NM_001127714.2,NM_024503.4	,	0,14,6489	AA,AT,TT		0.1163,0.0908,0.1076	,	42/2406,42/2407	42050343	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42050343T>A	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.126A>T	1.37:g.42050343T>A						HIVEP3_ENST00000247584.5_Silent_p.T42T|HIVEP3_ENST00000429157.2_Silent_p.T42T|HIVEP3_ENST00000372583.1_Silent_p.T42T	p.T42T	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	1140	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	42					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	ENST00000372583.1	37	c.126A>T	CCDS463.1																																																																																				0.627	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		7	186	0	0	0	0.02938	0	7	186					A	42050343	T	A	42050343	2	1	368	1	0	0	0	0	0	0	0	1	7188	1567	55	5		5	HIVEP3	1	42050343	Silent	SNP	T	TCGA-ET-A39K-01A-11D-A19J-08		42050343	207200278	1	7763											
EFCAB7	84455	broad.mit.edu	37	chr1	63991290	63991290	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aactttctccagtcagaaatCaacaccttcagagagtcctc	5	13	4	2			TCGA-ET-A39K-01A-11D-A19J-08	TCGA-ET-A39K-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ea309c8-f103-4eec-a8bb-329c17387599	2b6cc855-e787-426f-9121-ddbcad17e997	g.chr1:63991290C>A	ENST00000371088.4	+	2	293	c.47C>A	c.(46-48)tCa>tAa	p.S16*	ITGB3BP_ENST00000283568.8_5'Flank|ITGB3BP_ENST00000371092.3_5'Flank|ITGB3BP_ENST00000271002.10_5'Flank	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	16							calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						AGTCAGAAATCAACACCTTCA	0.363																																						ENST00000371088.4																			0				breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						c.(46-48)tCa>tAa		EF-hand calcium binding domain 7							75	81	79					1																	63991290		2203	4300	6503	SO:0001587	stop_gained	84455						calcium ion binding	g.chr1:63991290C>A	BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965		"EF-hand domain containing"	29379	protein-coding gene	gene with protein product						11347906	Standard	NM_032437		Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.47C>A	1.37:g.63991290C>A	ENSP00000360129:p.Ser16*						p.S16*	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN			2	293	+			16					Q658P0|Q96B95|Q96JM6	Nonsense_Mutation	SNP	ENST00000371088.4	37	c.47C>A	CCDS30737.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.401080	0.62288	.	.	ENSG00000203965	ENST00000371088	.	.	.	4.89	4.89	0.63831	.	0.923115	0.09262	N	0.826340	.	.	.	.	.	.	0.22112	N	0.999355	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.8019	13.6868	0.62522	0.0:0.846:0.154:0.0	.	.	.	.	X	16	.	ENSP00000360129:S16X	S	+	2	0	EFCAB7	63763878	0.236000	0.23804	0.012000	0.15200	0.151000	0.21798	1.601000	0.36773	2.238000	0.73509	0.556000	0.70494	TCA		0.363	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024910.1	NM_032437		10	89	1	0	4.68919e-08	0.069234	5.92319e-08	10	89					A	63991290	C	A	63991290	4	1	368	1	0	0	0	0	0	1	0	0	4940	838	29	4	49	4	EFCAB7	1	63991290	Nonsense_Mutation	SNP	C	TCGA-ET-A39K-01A-11D-A19J-08	21940947	63991290	185259331	2	7764											
OSTC	58505	broad.mit.edu	37	chr4	109578625	109578625	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtaaatggacaatatattAtggaaggacttgcatccagc	10	6	0	0			TCGA-ET-A39K-01A-11D-A19J-08	TCGA-ET-A39K-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ea309c8-f103-4eec-a8bb-329c17387599	2b6cc855-e787-426f-9121-ddbcad17e997	g.chr4:109578625A>G	ENST00000361564.4	+	3	325	c.253A>G	c.(253-255)Atg>Gtg	p.M85V	OSTC_ENST00000512478.2_Missense_Mutation_p.M85V	NM_021227.3	NP_067050.1	Q9NRP0	OSTC_HUMAN	oligosaccharyltransferase complex subunit (non-catalytic)	85					protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|oligosaccharyltransferase complex (GO:0008250)				breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						ACAATATATTATGGAAGGACT	0.338																																						ENST00000361564.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						c.(253-255)Atg>Gtg		oligosaccharyltransferase complex subunit (non-catalytic)							49	47	48					4																	109578625		2203	4300	6503	SO:0001583	missense	58505					integral to membrane|oligosaccharyltransferase complex		g.chr4:109578625A>G	AF201937	CCDS3681.1, CCDS58921.1, CCDS75177.1	4q25	2013-03-06	2013-03-06		ENSG00000198856	ENSG00000198856			24448	protein-coding gene	gene with protein product	"DC2 protein"		"oligosaccharyltransferase complex subunit"			15835887	Standard	NM_021227		Approved	DC2	uc031sgt.1	Q9NRP0	OTTHUMG00000161031	ENST00000361564.4:c.253A>G	4.37:g.109578625A>G	ENSP00000354676:p.Met85Val					OSTC_ENST00000512478.2_Missense_Mutation_p.M85V	p.M85V	NM_021227.3	NP_067050.1	Q9NRP0	OSTC_HUMAN			3	325	+			85					A8MYS2|B2R5H1|D6RH22|Q9P075|Q9P1R4	Missense_Mutation	SNP	ENST00000361564.4	37	c.253A>G	CCDS3681.1	.	.	.	.	.	.	.	.	.	.	.	16.11	3.029247	0.54790	.	.	ENSG00000198856	ENST00000361564;ENST00000512478	T;T	0.75367	-0.93;-0.93	4.87	4.87	0.63330	.	0.000000	0.85682	U	0.000000	T	0.75072	0.3800	M	0.72118	2.19	0.80722	D	1	B	0.26935	0.164	B	0.33690	0.168	T	0.72469	-0.4284	9	.	.	.	.	14.7601	0.69600	1.0:0.0:0.0:0.0	.	85	Q9NRP0	OSTC_HUMAN	V	85	ENSP00000354676:M85V;ENSP00000426167:M85V	.	M	+	1	0	OSTC	109798074	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.841000	0.92131	1.944000	0.56390	0.445000	0.29226	ATG		0.338	OSTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363485.1	NM_021227		6	57	0	0	0	0.021553	0	6	57					G	109578625	A	G	109578625	3	3	368	1	0	0	0	0	1	0	0	0	11296	449	16	3	263	3	OSTC	4	109578625	Missense_Mutation	SNP	A	TCGA-ET-A39K-01A-11D-A19J-08		109578625	81575651	3	7765											
AHR	196	broad.mit.edu	37	chr7	17370506	17370506	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctggataattcatctggttTtctggtaaggtacaaaattt	9	5	3	0			TCGA-ET-A39K-01A-11D-A19J-08	TCGA-ET-A39K-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ea309c8-f103-4eec-a8bb-329c17387599	2b6cc855-e787-426f-9121-ddbcad17e997	g.chr7:17370506T>A	ENST00000242057.4	+	6	1344	c.701T>A	c.(700-702)tTt>tAt	p.F234Y		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	234					apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|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)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	TCATCTGGTTTTCTGGTAAGG	0.353																																						ENST00000242057.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33						c.(700-702)tTt>tAt		aryl hydrocarbon receptor							90	90	90					7																	17370506		2203	4299	6502	SO:0001583	missense	196				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr7:17370506T>A	L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"Basic helix-loop-helix proteins"	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.701T>A	7.37:g.17370506T>A	ENSP00000242057:p.Phe234Tyr						p.F234Y	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN			6	1344	+	Lung NSC(10;0.0392)|all_lung(11;0.0754)		234					A4D130|Q13728|Q13803|Q13804	Missense_Mutation	SNP	ENST00000242057.4	37	c.701T>A	CCDS5366.1	.	.	.	.	.	.	.	.	.	.	T	35	5.427174	0.96131	.	.	ENSG00000106546	ENST00000242057	T	0.06608	3.28	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.26738	0.0654	M	0.90369	3.11	0.80722	D	1	P	0.36282	0.546	P	0.49085	0.6	T	0.01472	-1.1346	10	0.87932	D	0	.	16.4237	0.83790	0.0:0.0:0.0:1.0	.	234	P35869	AHR_HUMAN	Y	234	ENSP00000242057:F234Y	ENSP00000242057:F234Y	F	+	2	0	AHR	17337031	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.942000	0.87708	2.279000	0.76181	0.533000	0.62120	TTT		0.353	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621		13	17	0	0	0	0.105934	0	13	17					A	17370506	T	A	17370506	3	1	368	1	0	0	0	0	1	0	0	0	416	1841	64	5	723	5	AHR	7	17370506	Missense_Mutation	SNP	T	TCGA-ET-A39K-01A-11D-A19J-08		17370506	141768157	4	7766											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A39K-01A-11D-A19J-08	TCGA-ET-A39K-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ea309c8-f103-4eec-a8bb-329c17387599	2b6cc855-e787-426f-9121-ddbcad17e997	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		23	32	0	0	0	0.099896	0	23	32					T	140453136	A	T	140453136	3	4	368	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A39K-01A-11D-A19J-08	123082630	140453136	18685527	5	7767											
IFFO1	25900	broad.mit.edu	37	chr12	6664490	6664490	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtagagagcgcggatctcggGcgtgatggtgtcgatctgga	18	7	2	2			TCGA-ET-A39K-01A-11D-A19J-08	TCGA-ET-A39K-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ea309c8-f103-4eec-a8bb-329c17387599	2b6cc855-e787-426f-9121-ddbcad17e997	g.chr12:6664490G>T	ENST00000396840.2	-	1	747	c.706C>A	c.(706-708)Ccc>Acc	p.P236T	NOP2_ENST00000542015.1_5'Flank|IFFO1_ENST00000336604.4_Missense_Mutation_p.P236T|IFFO1_ENST00000356896.4_Missense_Mutation_p.P236T			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	236						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						CGGATCTCGGGCGTGATGGTG	0.662																																						ENST00000336604.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(706-708)Ccc>Acc		intermediate filament family orphan 1							104	105	105					12																	6664490		2203	4300	6503	SO:0001583	missense	25900					intermediate filament		g.chr12:6664490G>T	AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"Intermediate filament family orphans"	24970	protein-coding gene	gene with protein product		610495	"intermediate filament family orphan"	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.706C>A	12.37:g.6664490G>T	ENSP00000380052:p.Pro236Thr					IFFO1_ENST00000396840.2_Missense_Mutation_p.P236T|IFFO1_ENST00000356896.4_Missense_Mutation_p.P236T	p.P236T	NM_080730.4	NP_542768.2	Q0D2I5	IFFO1_HUMAN			1	747	-			236					Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Missense_Mutation	SNP	ENST00000396840.2	37	c.706C>A		.	.	.	.	.	.	.	.	.	.	G	22.3	4.277057	0.80580	.	.	ENSG00000010295	ENST00000336604;ENST00000396840;ENST00000356896	T;T;T	0.70045	-0.45;-0.45;-0.45	4.03	3.13	0.36017	.	0.086406	0.45606	D	0.000348	T	0.67078	0.2855	L	0.57536	1.79	0.80722	D	1	P;P;P;P	0.46277	0.875;0.875;0.875;0.875	P;P;P;P	0.48654	0.585;0.585;0.585;0.585	T	0.66606	-0.5881	10	0.41790	T	0.15	-17.6435	11.3142	0.49381	0.0905:0.0:0.9095:0.0	.	236;236;236;236	Q0D2I5-7;Q0D2I5-4;Q0D2I5;Q0D2I5-5	.;.;IFFO1_HUMAN;.	T	236	ENSP00000337593:P236T;ENSP00000380052:P236T;ENSP00000349364:P236T	ENSP00000337593:P236T	P	-	1	0	IFFO1	6534751	1.000000	0.71417	0.940000	0.37924	0.961000	0.63080	8.958000	0.93099	1.031000	0.39867	0.561000	0.74099	CCC		0.662	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730		6	116	1	0	2.0095e-06	0.02938	2.4114e-06	6	116					T	6664490	G	T	6664490	3	4	368	1	0	0	0	0	1	0	0	0	7510	1203	42	4	1025	4	IFFO1	12	6664490	Missense_Mutation	SNP	G	TCGA-ET-A39K-01A-11D-A19J-08		6664490	127187405	6	7768											
FLOT2	2319	broad.mit.edu	37	chr17	27208390	27208390	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtgccaagaggacctgcttCaccctgggggagcccaggcc	14	14	1	1			TCGA-ET-A39K-01A-11D-A19J-08	TCGA-ET-A39K-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ea309c8-f103-4eec-a8bb-329c17387599	2b6cc855-e787-426f-9121-ddbcad17e997	g.chr17:27208390C>T	ENST00000394908.4	-	9	1022	c.918G>A	c.(916-918)gtG>gtA	p.V306V	FLOT2_ENST00000585169.1_Silent_p.V306V|FLOT2_ENST00000394906.2_Silent_p.V361V|FLOT2_ENST00000577789.1_5'UTR	NM_004475.2	NP_004466.2	Q14254	FLOT2_HUMAN	flotillin 2	306					cell adhesion (GO:0007155)|epidermis development (GO:0008544)|establishment of protein localization to plasma membrane (GO:0090002)|negative regulation of amyloid precursor protein catabolic process (GO:1902992)|negative regulation of gene expression (GO:0010629)|protein stabilization (GO:0050821)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|flotillin complex (GO:0016600)|focal adhesion (GO:0005925)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			GGACCTGCTTCACCCTGGGGG	0.627																																						ENST00000394906.2																			0				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11						c.(1081-1083)gtG>gtA		flotillin 2							62	62	62					17																	27208390		2003	4159	6162	SO:0001819	synonymous_variant	2319				cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction		g.chr17:27208390C>T	M60922	CCDS11245.2	17q11-q12	2008-07-18			ENSG00000132589	ENSG00000132589			3758	protein-coding gene	gene with protein product	"Flotillin 2 (epidermal surface antigen 1)", "membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1)"	131560		M17S1		1769667	Standard	XM_005257950		Approved	ESA, ESA1, ECS-1, ECS1	uc002hdc.3	Q14254	OTTHUMG00000132674	ENST00000394908.4:c.918G>A	17.37:g.27208390C>T						FLOT2_ENST00000585169.1_Silent_p.V306V|FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000394908.4_Silent_p.V306V	p.V361V			Q14254	FLOT2_HUMAN	Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)		11	1160	-	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		306						Silent	SNP	ENST00000394908.4	37	c.1083G>A	CCDS11245.2																																																																																				0.627	FLOT2-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255935.3	NM_004475		8	79	0	0	0	0.047766	0	8	79					T	27208390	C	T	27208390	2	4	368	1	0	0	0	0	0	0	0	1	5937	813	29	2		2	FLOT2	17	27208390	Silent	SNP	C	TCGA-ET-A39K-01A-11D-A19J-08		27208390	53986820	7	7769											
ARFGEF2	10564	broad.mit.edu	37	chr20	47626931	47626931	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctggccttccagaccacttgCcacattgtcagtaagtggct	9	13	1	1			TCGA-ET-A39K-01A-11D-A19J-08	TCGA-ET-A39K-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ea309c8-f103-4eec-a8bb-329c17387599	2b6cc855-e787-426f-9121-ddbcad17e997	g.chr20:47626931C>G	ENST00000371917.4	+	27	3747	c.3747C>G	c.(3745-3747)tgC>tgG	p.C1249W		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1249					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGACCACTTGCCACATTGTCA	0.507																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	ENST00000371917.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(3745-3747)tgC>tgG		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)							122	88	100					20																	47626931		2203	4300	6503	SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47626931C>G	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.3747C>G	20.37:g.47626931C>G	ENSP00000360985:p.Cys1249Trp						p.C1249W	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		27	3747	+			1249					Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.3747C>G	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.829168	0.32329	.	.	ENSG00000124198	ENST00000371917	T	0.65549	-0.16	5.18	4.24	0.50183	Domain of unknown function DUF1981, SEC7 associated (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.097898	0.64402	D	0.000001	T	0.46737	0.1408	L	0.29908	0.895	0.46849	D	0.999221	B	0.32128	0.357	B	0.34536	0.185	T	0.49652	-0.8917	10	0.72032	D	0.01	.	4.6855	0.12755	0.1448:0.5397:0.2362:0.0793	.	1249	Q9Y6D5	BIG2_HUMAN	W	1249	ENSP00000360985:C1249W	ENSP00000360985:C1249W	C	+	3	2	ARFGEF2	47060338	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.011000	0.29911	1.327000	0.45338	0.655000	0.94253	TGC		0.507	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		26	45	0	0	0	0.125774	0	26	45					G	47626931	C	G	47626931	3	3	368	1	0	0	0	0	1	0	0	0	853	747	26	4	3853	4	ARFGEF2	20	47626931	Missense_Mutation	SNP	C	TCGA-ET-A39K-01A-11D-A19J-08		47626931	15398589	8	7770											
FAM47A	158724	broad.mit.edu	37	chrX	34148211	34148211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccataaagatcgtcaagaaCgtcaggttcatcaggctttt	8	9	4	2			TCGA-ET-A39K-01A-11D-A19J-08	TCGA-ET-A39K-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ea309c8-f103-4eec-a8bb-329c17387599	2b6cc855-e787-426f-9121-ddbcad17e997	g.chrX:34148211C>T	ENST00000346193.3	-	1	2236	c.2185G>A	c.(2185-2187)Gtt>Att	p.V729I		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	729										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TCGTCAAGAACGTCAGGTTCA	0.438																																						ENST00000346193.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(2185-2187)Gtt>Att		family with sequence similarity 47, member A							132	127	129					X																	34148211		2202	4300	6502	SO:0001583	missense	158724							g.chrX:34148211C>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.2185G>A	X.37:g.34148211C>T	ENSP00000345029:p.Val729Ile						p.V729I	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	2236	-			729					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.2185G>A	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.563197	0.00134	.	.	ENSG00000185448	ENST00000346193	T	0.13089	2.62	1.17	-2.34	0.06704	.	.	.	.	.	T	0.01940	0.0061	N	0.00251	-1.775	0.09310	N	1	B	0.27594	0.182	B	0.18263	0.021	T	0.36792	-0.9733	9	0.02654	T	1	.	4.8336	0.13453	0.0:0.2308:0.0:0.7692	.	729	Q5JRC9	FA47A_HUMAN	I	729	ENSP00000345029:V729I	ENSP00000345029:V729I	V	-	1	0	FAM47A	34058132	0.011000	0.17503	0.003000	0.11579	0.006000	0.05464	-0.488000	0.06497	-0.626000	0.05596	-1.470000	0.01010	GTT		0.438	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		10	171	0	0	0	0.058154	0	10	171					T	34148211	C	T	34148211	3	4	368	1	0	0	0	0	1	0	0	0	5569	536	19	1	194	1	FAM47A	23	34148211	Missense_Mutation	SNP	C	TCGA-ET-A39K-01A-11D-A19J-08		34148211	121122349	9	7771											
ZC3H11A	9877	broad.mit.edu	37	chr1	203816376	203816376	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaattcttcttgaaagagcCagtcagaaacgtggagaatt	10	6	3	4			TCGA-ET-A39L-01A-12D-A19J-08	TCGA-ET-A39L-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4	09a340d3-3d5f-4a47-892c-5139c0bb78d3	g.chr1:203816376C>T	ENST00000545588.1	+	12	4934	c.1107C>T	c.(1105-1107)gcC>gcT	p.A369A	ZC3H11A_ENST00000367210.1_Silent_p.A369A|ZC3H11A_ENST00000332127.4_Silent_p.A369A|ZC3H11A_ENST00000367214.1_Silent_p.A369A|ZC3H11A_ENST00000367212.3_Silent_p.A369A	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	369					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TTGAAAGAGCCAGTCAGAAAC	0.373																																						ENST00000545588.1																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1105-1107)gcC>gcT		zinc finger CCCH-type containing 11A							55	57	56					1																	203816376		2203	4300	6503	SO:0001819	synonymous_variant	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203816376C>T		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"Zinc fingers, CCCH-type domain containing"	29093	protein-coding gene	gene with protein product		613513	"zinc finger CCCH-type domain containing 11A"	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.1107C>T	1.37:g.203816376C>T						ZC3H11A_ENST00000367212.3_Silent_p.A369A|ZC3H11A_ENST00000332127.4_Silent_p.A369A|ZC3H11A_ENST00000367210.1_Silent_p.A369A|ZC3H11A_ENST00000367214.1_Silent_p.A369A	p.A369A	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		12	4934	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		369					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Silent	SNP	ENST00000545588.1	37	c.1107C>T	CCDS30978.1																																																																																				0.373	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		6	55	0	0	0	1	0	6	55					T	203816376	C	T	203816376	2	4	369	1	0	0	0	0	0	0	0	1	17557	581	21	2		2	ZC3H11A	1	203816376	Silent	SNP	C	TCGA-ET-A39L-01A-12D-A19J-08		203816376	45434245	1	7772											
ARID1B	57492	broad.mit.edu	37	chr6	157100302	157100302	+	Frame_Shift_Del	DEL	G	G	-													ggccagaaccagcacccgtcGggggccaccccgaccctcaa							TCGA-ET-A39L-01A-12D-A19J-08	TCGA-ET-A39L-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4	09a340d3-3d5f-4a47-892c-5139c0bb78d3	g.chr6:157100302delG	ENST00000350026.5	+	1	1240	c.1239delG	c.(1237-1239)tcgfs	p.S413fs	RP11-230C9.3_ENST00000604792.1_RNA|ARID1B_ENST00000367148.1_Frame_Shift_Del_p.S413fs|MIR4466_ENST00000606121.1_RNA|ARID1B_ENST00000346085.5_Frame_Shift_Del_p.S413fs|ARID1B_ENST00000275248.4_Frame_Shift_Del_p.S355fs|RP11-230C9.2_ENST00000603191.1_lincRNA	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	413	Ala-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGCACCCGTCGGGGGCCACCC	0.771																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(1237-1239)tcfs		AT rich interactive domain 1B (SWI1-like)							5	5	5					6																	157100302		1734	3499	5233	SO:0001589	frameshift_variant	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157100302delG	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.1239delG	6.37:g.157100302delG	ENSP00000055163:p.Ser413fs					ARID1B_ENST00000367148.1_Frame_Shift_Del_p.S413fs|ARID1B_ENST00000350026.5_Frame_Shift_Del_p.S413fs|ARID1B_ENST00000275248.4_Frame_Shift_Del_p.S355fs	p.S413fs	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	1	1240	+		Breast(66;0.000162)|Ovarian(120;0.0265)	413			Ala-rich.		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Frame_Shift_Del	DEL	ENST00000350026.5	37	c.1239delG	CCDS5251.2																																																																																				0.771	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		2	4						2	4	---	---	---	---	-	157100302	G	-	157100302	7	5	369	1	0	1	0	1	0	0	0	0	914	1103	39	0	1241	0	ARID1B	6	157100302	Frame_Shift_Del	DEL	G	TCGA-ET-A39L-01A-12D-A19J-08		157100302	14014765	2	7773											
ABL1	25	broad.mit.edu	37	chr9	133759490	133759492	+	In_Frame_Del	DEL	AAG	AAG	-													acttgttcagcgccttgatcAagaagaagaagaagacagcc					rs201725154		TCGA-ET-A39L-01A-12D-A19J-08	TCGA-ET-A39L-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4	09a340d3-3d5f-4a47-892c-5139c0bb78d3	g.chr9:133759490_133759492delAAG	ENST00000318560.5	+	11	2194_2196	c.1813_1815delAAG	c.(1813-1815)aagdel	p.K609del		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	609	Poly-Lys.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	CGCCTTGATCAAGAAGAAGAAGA	0.616			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"T, Mis"	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"BCR, ETV6, NUP214"		"CML, ALL, T-ALL"		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(1813-1815)del		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)																																			SO:0001651	inframe_deletion	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133759490_133759492delAAG	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1813_1815delAAG	9.37:g.133759499_133759501delAAG	ENSP00000323315:p.Lys609del						p.K609del	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	11	2194_2196	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	609			Poly-Lys.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	In_Frame_Del	DEL	ENST00000318560.5	37	c.1813_1815delAAG	CCDS35166.1																																																																																				0.616	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		7	165						7	165	---	---	---	---	-	133759492	AAG	-	133759490	7	5	369	1	0	1	0	1	0	0	0	0	92	131	5	0	1995	0	ABL1	9	133759490	In_Frame_Del	DEL	AAG	TCGA-ET-A39L-01A-12D-A19J-08		133759490	7453941	3	7774											
NPAT	4863	broad.mit.edu	37	chr11	108032299	108032299	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctttctacatcgctgcAtaattcattctccttattag	4	11	4	0			TCGA-ET-A39L-01A-12D-A19J-08	TCGA-ET-A39L-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4	09a340d3-3d5f-4a47-892c-5139c0bb78d3	g.chr11:108032299A>G	ENST00000278612.8	-	17	3619	c.3514T>C	c.(3514-3516)Tgc>Cgc	p.C1172R		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1172					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)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		ACATCGCTGCATAATTCATTC	0.363																																						ENST00000278612.8																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46						c.(3514-3516)Tgc>Cgc		nuclear protein, ataxia-telangiectasia locus							165	158	160					11																	108032299		1825	4075	5900	SO:0001583	missense	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108032299A>G	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.3514T>C	11.37:g.108032299A>G	ENSP00000278612:p.Cys1172Arg						p.C1172R	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	17	3619	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1172					A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	37	c.3514T>C	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	A	1.722	-0.496455	0.04291	.	.	ENSG00000149308	ENST00000278612	T	0.03607	3.87	6.07	2.51	0.30379	.	0.600734	0.18447	N	0.140959	T	0.02727	0.0082	L	0.39898	1.24	0.22050	N	0.999398	B	0.09022	0.002	B	0.06405	0.002	T	0.48068	-0.9067	10	0.07644	T	0.81	0.5969	4.2593	0.10733	0.3624:0.2091:0.4286:0.0	.	1172	Q14207	NPAT_HUMAN	R	1172	ENSP00000278612:C1172R	ENSP00000278612:C1172R	C	-	1	0	NPAT	107537509	0.004000	0.15560	0.946000	0.38457	0.983000	0.72400	0.694000	0.25512	0.559000	0.29153	0.528000	0.53228	TGC		0.363	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		18	160	0	0	0	1	0	18	160					G	108032299	A	G	108032299	3	3	369	1	0	0	0	0	1	0	0	0	10566	217	8	3	777	3	NPAT	11	108032299	Missense_Mutation	SNP	A	TCGA-ET-A39L-01A-12D-A19J-08		108032299	26974217	4	7775											
CACNA1C	775	broad.mit.edu	37	chr12	2797746	2797746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcccgtccccaccctgcGgcttgagggggtcgagtcca	13	16	0	1	rs112414325	byFrequency	TCGA-ET-A39L-01A-12D-A19J-08	TCGA-ET-A39L-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4	09a340d3-3d5f-4a47-892c-5139c0bb78d3	g.chr12:2797746G>A	ENST00000347598.4	+	48	6062	c.6062G>A	c.(6061-6063)cGg>cAg	p.R2021Q	CACNA1C_ENST00000399634.1_Missense_Mutation_p.R2044Q|CACNA1C-AS1_ENST00000544517.1_RNA|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R1973Q|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R1973Q|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R1992Q|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R1993Q|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R1998Q|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R2008Q|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R2044Q|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R1973Q|CACNA1C-AS1_ENST00000541673.1_RNA|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R1973Q|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R2001Q|CACNA1C_ENST00000399655.1_Missense_Mutation_p.R1973Q|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R1981Q|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R1992Q|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R1981Q|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R1992Q|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R2014Q|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R1990Q|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R1979Q|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R2008Q|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R1973Q	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2056					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCACCCTGCGGCTTGAGGGG	0.672													G|||	16	0.00319489	0	0	5008	,	,		15018	0.001		0	False		,,,				2504	0.0153					ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(5917-5919)cGg>cAg		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	2,3862		0,2,1930	46	54	52		5918,6062,6041,6023,6002,5978,5975,5975,5975,5969,5942,5942,5936,5918,5918,5918,5918,5909,5885,5918,6023,6098,6167	5.0	1.0	12	dbSNP_132	52	18,8226		0,18,4104	yes	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	CACNA1C	NM_000719.6,NM_001129827.1,NM_001129829.1,NM_001129830.1,NM_001129831.1,NM_001129832.1,NM_001129833.1,NM_001129834.1,NM_001129835.1,NM_001129836.1,NM_001129837.1,NM_001129838.1,NM_001129839.1,NM_001129840.1,NM_001129841.1,NM_001129842.1,NM_001129843.1,NM_001129844.1,NM_001129846.1,NM_001167623.1,NM_001167624.1,NM_001167625.1,NM_199460.2	43,43,43,43,43,43,43,43,43,43,43,43,43,43,43,43,43,43,43,43,43,43,43	0,20,6034	AA,AG,GG		0.2183,0.0518,0.1652	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1973/2139,2021/2187,2014/2180,2008/2174,2001/2167,1993/2159,1992/2158,1992/2158,1992/2158,1990/2156,1981/2147,1981/2147,1979/2145,1973/2139,1973/2139,1973/2139,1973/2139,1970/2136,1962/2128,1973/2139,2008/2174,2033/2199,2056/2222	2797746	20,12088	1932	4122	6054	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2797746G>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.6062G>A	12.37:g.2797746G>A	ENSP00000266376:p.Arg2021Gln					CACNA1C_ENST00000399641.1_Missense_Mutation_p.R1973Q|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R1981Q|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R1981Q|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R2014Q|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R2008Q|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R2044Q|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R2001Q|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R1998Q|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R1973Q|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R1973Q|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R1993Q|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R1992Q|CACNA1C_ENST00000347598.4_Missense_Mutation_p.R2021Q|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R1973Q|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R1979Q|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R2044Q|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R1992Q|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R1992Q|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R1973Q|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R1990Q|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R2008Q	p.R1973Q	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	46	6183	+			2056					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.5918G>A	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	9.148	1.015482	0.19355	5.18E-4	0.002183	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53	4.97	4.97	0.65823	.	0.733016	0.12855	N	0.433660	T	0.49779	0.1577	L	0.39245	1.2	0.32878	D	0.510226	B;D;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.56746	0.028;0.977;0.032;0.135;0.049;0.083;0.086;0.049;0.006;0.014;0.083;0.032;0.028;0.103;0.019;0.096;0.028;0.007;0.083;0.007;0.032;0.049;0.083;0.032;0.032	B;P;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.50490	0.009;0.642;0.005;0.007;0.016;0.016;0.01;0.01;0.009;0.003;0.016;0.005;0.007;0.025;0.002;0.033;0.007;0.009;0.016;0.004;0.003;0.016;0.01;0.005;0.005	T	0.43653	-0.9378	10	0.08599	T	0.76	.	12.6548	0.56782	0.0797:0.0:0.9203:0.0	.	664;2014;1970;2056;2008;1992;1973;1990;2001;1973;1993;1973;2004;2021;1973;2008;2044;1981;1979;1981;1962;1992;1992;1973;1973	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	Q	1998;1973;1973;2001;1973;1992;1992;1981;1973;2021;1993;1973;2014;1990;2008;1979;1992;1973;2044;2008;2044;1981;1874	ENSP00000336982:R1998Q;ENSP00000382563:R1973Q;ENSP00000382552:R1973Q;ENSP00000382547:R2001Q;ENSP00000382506:R1973Q;ENSP00000382530:R1992Q;ENSP00000382546:R1992Q;ENSP00000382500:R1981Q;ENSP00000382549:R1973Q;ENSP00000266376:R2021Q;ENSP00000382515:R1993Q;ENSP00000382510:R1973Q;ENSP00000341092:R2014Q;ENSP00000382537:R1990Q;ENSP00000329877:R2008Q;ENSP00000382557:R1979Q;ENSP00000385724:R1992Q;ENSP00000382512:R1973Q;ENSP00000382542:R2044Q;ENSP00000382526:R2008Q;ENSP00000385896:R2044Q;ENSP00000382504:R1981Q	ENSP00000323129:R1874Q	R	+	2	0	CACNA1C	2668007	1.000000	0.71417	1.000000	0.80357	0.261000	0.26267	2.549000	0.45803	2.311000	0.77944	0.462000	0.41574	CGG		0.672	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		8	82	0	0	0	1	0	8	82					A	2797746	G	A	2797746	3	1	369	1	0	0	0	0	1	0	0	0	2540	1116	39	1	6809	1	CACNA1C	12	2797746	Missense_Mutation	SNP	G	TCGA-ET-A39L-01A-12D-A19J-08		2797746	131054149	5	7776											
ANKRD30B	374860	broad.mit.edu	37	chr18	14779969	14779969	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	acatttttagatcagatgttCccatcagaatccaaacgaga	6	9	2	4	rs9675365	byFrequency	TCGA-ET-A39L-01A-12D-A19J-08	TCGA-ET-A39L-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4	09a340d3-3d5f-4a47-892c-5139c0bb78d3	g.chr18:14779969C>G	ENST00000358984.4	+	11	1611	c.1431C>G	c.(1429-1431)ttC>ttG	p.F477L	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.F477L	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	477			F -> L (in dbSNP:rs9675365).					p.F477L(2)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ATCAGATGTTCCCATCAGAAT	0.279													C|||	2332	0.465655	0.4773	0.4265	5008	,	,		15526	0.4187		0.5159	False		,,,				2504	0.4744					ENST00000358984.4																			2	Substitution - Missense(2)	p.F477L(2)	prostate(2)	breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(1429-1431)ttC>ttG		ankyrin repeat domain 30B							167	153	157					18																	14779969		692	1591	2283	SO:0001583	missense	374860							g.chr18:14779969C>G	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"Ankyrin repeat domain containing"	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.1431C>G	18.37:g.14779969C>G	ENSP00000351875:p.Phe477Leu					ANKRD30B_ENST00000447268.2_Missense_Mutation_p.F477L|ANKRD30B_ENST00000579292.1_Intron	p.F477L	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			11	1611	+			477		F -> L (in dbSNP:rs9675365).			B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.1431C>G	CCDS54182.1	1018	0.4661172161172161	231	0.4695121951219512	157	0.43370165745856354	240	0.4195804195804196	390	0.5145118733509235	N	12.12	1.843849	0.32606	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.39406	1.08;1.4	1.69	-2.4	0.06583	.	.	.	.	.	T	0.00012	0.0000	L	0.47716	1.5	0.80722	P	0.0	B	0.30584	0.286	B	0.22753	0.041	T	0.48547	-0.9026	8	0.07990	T	0.79	.	0.2761	0.00238	0.3065:0.2974:0.1877:0.2084	rs9675365;rs52827349;rs59076177;rs9675365	477	F8WAG3	.	L	477	ENSP00000351875:F477L;ENSP00000399031:F477L	ENSP00000351875:F477L	F	+	3	2	ANKRD30B	14769969	0.988000	0.35896	0.000000	0.03702	0.155000	0.21991	0.095000	0.15127	-0.611000	0.05709	0.297000	0.19635	TTC		0.279	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		4	39	0	0	0	1	0	4	39					G	14779969	C	G	14779969	3	3	369	1	0	0	0	0	1	0	0	0	659	854	30	4	1473	4	ANKRD30B	18	14779969	Missense_Mutation	SNP	C	TCGA-ET-A39L-01A-12D-A19J-08		14779969	63297279	6	7777											
BAGE	85319	broad.mit.edu	37	chr21	11098733	11098733	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatcttactgctccggccGccatcttactgctccagccc	7	19	2	0			TCGA-ET-A39L-01A-12D-A19J-08	TCGA-ET-A39L-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4	09a340d3-3d5f-4a47-892c-5139c0bb78d3	g.chr21:11098733G>A	ENST00000470054.1	-	0	192							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		tgctccggccgccatcttact	0.632																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							104	151	135					21																	11098733		2124	4261	6385			85319							g.chr21:11098733G>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"cancer/testis antigen family 2, member 2"					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098733G>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	192	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.632	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		8	82	0	0	0	1	0	8	82					A	11098733	G	A	11098733	1	1	369	0	1	0	0	0	0	0	0	0	1291	1087	38	1		1	BAGE	21	11098733	RNA	SNP	G	TCGA-ET-A39L-01A-12D-A19J-08		11098733	37031162	7	7778											
MEGF6	1953	broad.mit.edu	37	chr1	3427403	3427403	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggcgtagcagccgcactcgTacccgccagggttgttggtg	15	13	0	0			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr1:3427403T>C	ENST00000356575.4	-	10	1404	c.1178A>G	c.(1177-1179)tAc>tGc	p.Y393C	MEGF6_ENST00000294599.4_Missense_Mutation_p.Y288C	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	393	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCCGCACTCGTACCCGCCAGG	0.687																																					Ovarian(73;978 3658)	ENST00000356575.4																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1177-1179)tAc>tGc		multiple EGF-like-domains 6							44	55	51					1																	3427403		2154	4245	6399	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3427403T>C	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"EGF-like-domain, multiple 3"	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.1178A>G	1.37:g.3427403T>C	ENSP00000348982:p.Tyr393Cys					MEGF6_ENST00000294599.4_Missense_Mutation_p.Y288C	p.Y393C	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	10	1404	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	393			EGF-like 7.		Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.1178A>G	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	T	19.95	3.920882	0.73213	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	D;D	0.88664	-2.41;-2.41	4.51	4.51	0.55191	EGF-like calcium-binding, conserved site (1);Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.96018	0.8703	H	0.96547	3.84	0.50313	D	0.999864	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96812	0.9597	10	0.59425	D	0.04	-45.6001	13.478	0.61320	0.0:0.0:0.0:1.0	.	393;288	O75095;O75095-2	MEGF6_HUMAN;.	C	288;393	ENSP00000294599:Y288C;ENSP00000348982:Y393C	ENSP00000294599:Y288C	Y	-	2	0	MEGF6	3417263	1.000000	0.71417	0.985000	0.45067	0.988000	0.76386	4.080000	0.57620	1.655000	0.50712	0.379000	0.24179	TAC		0.687	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		4	100	0	0	0	1	0	4	100					C	3427403	T	C	3427403	3	2	370	1	0	0	0	0	1	0	0	0	9462	1638	57	3	3559	3	MEGF6	1	3427403	Missense_Mutation	SNP	T	TCGA-ET-A39M-01A-11D-A19J-08		3427403	245823218	1	7779											
TMCO4	255104	broad.mit.edu	37	chr1	20009578	20009578	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtcttgcaggcacaatcGgggcagcccagtgggttggg	18	9	1	0			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr1:20009578G>A	ENST00000294543.6	-	16	2101	c.1860C>T	c.(1858-1860)ccC>ccT	p.P620P	TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375127.1_Intron|TMCO4_ENST00000375122.2_Silent_p.P580P	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	620						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		AGGCACAATCGGGGCAGCCCA	0.652																																						ENST00000294543.6																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1858-1860)ccC>ccT		transmembrane and coiled-coil domains 4							48	59	55					1																	20009578		2202	4299	6501	SO:0001819	synonymous_variant	255104					integral to membrane		g.chr1:20009578G>A		CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.1860C>T	1.37:g.20009578G>A						TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375122.2_Silent_p.P580P|TMCO4_ENST00000375127.1_Intron	p.P620P	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)	16	2101	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	620					Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Silent	SNP	ENST00000294543.6	37	c.1860C>T	CCDS198.1																																																																																				0.652	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	NM_181719		52	167	0	0	0	1	0	52	167					A	20009578	G	A	20009578	2	1	370	1	0	0	0	0	0	0	0	1	15995	1103	39	1		1	TMCO4	1	20009578	Silent	SNP	G	TCGA-ET-A39M-01A-11D-A19J-08	16582175	20009578	229241043	2	7780											
MYBPHL	343263	broad.mit.edu	37	chr1	109839501	109839501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggaaggcataggagttgcCgatgatgaggtcagagacga	16	6	1	3	rs140827712		TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr1:109839501C>T	ENST00000357155.1	-	5	683	c.634G>A	c.(634-636)Ggc>Agc	p.G212S	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	212	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		TAGGAGTTGCCGATGATGAGG	0.567													C|||	1	0.000199681	0	0	5008	,	,		21301	0		0	False		,,,				2504	0.001					ENST00000357155.1																			0				central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14						c.(634-636)Ggc>Agc		myosin binding protein H-like		C	SER/GLY	0,4406		0,0,2203	131	103	113		634	4.0	0.9	1	dbSNP_134	113	3,8597	3.0+/-9.4	0,3,4297	yes	missense	MYBPHL	NM_001010985.2	56	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	212/355	109839501	3,13003	2203	4300	6503	SO:0001583	missense	343263							g.chr1:109839501C>T	AK129834	CCDS30793.1	1p13	2013-02-11			ENSG00000221986	ENSG00000221986		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	30434	protein-coding gene	gene with protein product							Standard	NM_001010985		Approved		uc001dxk.1	A2RUH7	OTTHUMG00000012002	ENST00000357155.1:c.634G>A	1.37:g.109839501C>T	ENSP00000349678:p.Gly212Ser					MYBPHL_ENST00000477962.1_Intron	p.G212S	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)	5	683	-		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)	212			Fibronectin type-III.		B7ZME5|Q5T2Z7	Missense_Mutation	SNP	ENST00000357155.1	37	c.634G>A	CCDS30793.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554354	0.86231	0.0	3.49E-4	ENSG00000221986	ENST00000357155	T	0.61742	0.08	4.91	4.0	0.46444	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74329	0.3702	M	0.91717	3.235	0.49687	D	0.999819	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80489	-0.1360	9	0.62326	D	0.03	.	12.4958	0.55927	0.168:0.832:0.0:0.0	.	189;212	B7ZME5;A2RUH7	.;MBPHL_HUMAN	S	212	ENSP00000349678:G212S	ENSP00000349678:G212S	G	-	1	0	MYBPHL	109641024	1.000000	0.71417	0.876000	0.34364	0.805000	0.45488	5.550000	0.67268	1.299000	0.44798	0.561000	0.74099	GGC		0.567	MYBPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033197.1	NM_001010985		6	134	0	0	0	1	0	6	134					T	109839501	C	T	109839501	3	4	370	1	0	0	0	0	1	0	0	0	10015	652	23	1	446	1	MYBPHL	1	109839501	Missense_Mutation	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08	89829923	109839501	139411120	3	7781											
OBSCN	84033	broad.mit.edu	37	chr1	228437749	228437749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccattgccacgctgagctgcGaggtggcccaggcccagaca	13	15	0	2	rs201854668		TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr1:228437749G>A	ENST00000422127.1	+	14	4161	c.4117G>A	c.(4117-4119)Gag>Aag	p.E1373K	OBSCN_ENST00000570156.2_Missense_Mutation_p.E1465K|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.E1373K	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1373	Ig-like 14.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTGAGCTGCGAGGTGGCCCA	0.637													G|||	1	0.000199681	8e-04	0	5008	,	,		14774	0		0	False		,,,				2504	0					ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(4393-4395)Gag>Aag		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF		G	LYS/GLU,LYS/GLU	1,4113		0,1,2056	64	67	66		4117,4117	4.3	0.9	1		66	16,8346		1,14,4166	no	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	56,56	1,15,6222	AA,AG,GG		0.1913,0.0243,0.1363	probably-damaging,probably-damaging	1373/7969,1373/6621	228437749	17,12459	2057	4181	6238	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228437749G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4117G>A	1.37:g.228437749G>A	ENSP00000409493:p.Glu1373Lys					OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.E1373K|OBSCN_ENST00000422127.1_Missense_Mutation_p.E1373K	p.E1465K	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			15	4467	+		Prostate(94;0.0405)	443			Ig-like 15.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.4393G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	14.92	2.678065	0.47886	2.43E-4	0.001913	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.66280	-0.2;-0.2	5.31	4.34	0.51931	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.75503	0.3858	M	0.66939	2.045	0.80722	D	1	P;D	0.89917	0.776;1.0	B;D	0.91635	0.274;0.999	T	0.72443	-0.4292	10	0.26408	T	0.33	.	15.4	0.74830	0.0:0.1395:0.8605:0.0	.	1373;1373	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	K	1373	ENSP00000284548:E1373K;ENSP00000409493:E1373K	ENSP00000284548:E1373K	E	+	1	0	OBSCN	226504372	1.000000	0.71417	0.949000	0.38748	0.012000	0.07955	4.378000	0.59568	2.468000	0.83385	0.655000	0.94253	GAG		0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		6	193	0	0	0	1	0	6	193					A	228437749	G	A	228437749	3	1	370	1	0	0	0	0	1	0	0	0	10812	1059	37	1	4167	1	OBSCN	1	228437749	Missense_Mutation	SNP	G	TCGA-ET-A39M-01A-11D-A19J-08	118598248	228437749	20812872	4	7782											
KIF26B	55083	broad.mit.edu	37	chr1	245850296	245850296	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaagcccaaggccagcccCgacaacttgctcatcctgtc	9	16	1	1	rs114792430	byFrequency	TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr1:245850296C>T	ENST00000407071.2	+	12	4451	c.4011C>T	c.(4009-4011)ccC>ccT	p.P1337P	KIF26B_ENST00000366518.4_Silent_p.P956P	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1337					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)	p.P1337P(2)		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)			AGGCCAGCCCCGACAACTTGC	0.562													C|||	12	0.00239617	0	0.0014	5008	,	,		17323	0.001		0.0089	False		,,,				2504	0.001					ENST00000366518.4																			2	Substitution - coding silent(2)	p.P1337P(2)	lung(2)	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.(2866-2868)ccC>ccT		kinesin family member 26B		C		2,4114		0,2,2056	48	53	51		4011	-5.3	0.3	1	dbSNP_132	51	53,8379		1,51,4164	no	coding-synonymous	KIF26B	NM_018012.3		1,53,6220	TT,TC,CC		0.6286,0.0486,0.4383		1337/2109	245850296	55,12493	2058	4216	6274	SO:0001819	synonymous_variant	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245850296C>T	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.4011C>T	1.37:g.245850296C>T						KIF26B_ENST00000407071.2_Silent_p.P1337P	p.P956P			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		9	2972	+	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)		1337					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	ENST00000407071.2	37	c.2868C>T	CCDS44342.1																																																																																				0.562	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		5	55	0	0	0	1	0	5	55					T	245850296	C	T	245850296	2	4	370	1	0	0	0	0	0	0	0	1	8295	639	23	1		1	KIF26B	1	245850296	Silent	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08	17412547	245850296	3400325	5	7783											
IRS1	3667	broad.mit.edu	37	chr2	227659846	227659846	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttgatgagggggtgggggTgggggaggctgcggttcagg	26	3	1	2			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr2:227659846T>G	ENST00000305123.5	-	1	4629	c.3609A>C	c.(3607-3609)ccA>ccC	p.P1203P	IRS1_ENST00000498335.1_5'UTR	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	1203	Pro-rich.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGGGTGGGGGTGGGGGAGGCT	0.582																																						ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(3607-3609)ccA>ccC		insulin receptor substrate 1							30	40	37					2																	227659846		2202	4299	6501	SO:0001819	synonymous_variant	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227659846T>G		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.3609A>C	2.37:g.227659846T>G						IRS1_ENST00000498335.1_5'UTR	p.P1203P	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	4629	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	1203			Pro-rich.			Silent	SNP	ENST00000305123.5	37	c.3609A>C	CCDS2463.1																																																																																				0.582	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		11	72	0	0	0	1	0	11	72					G	227659846	T	G	227659846	2	3	370	1	0	0	0	0	0	0	0	1	7840	1683	59	5		5	IRS1	2	227659846	Silent	SNP	T	TCGA-ET-A39M-01A-11D-A19J-08		227659846	15539527	6	7784											
FGD5	152273	broad.mit.edu	37	chr3	14861538	14861538	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccatgcacaggatgagtcCgccgaggagagctgccagat	14	11	0	3	rs200107291	byFrequency	TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr3:14861538C>T	ENST00000285046.5	+	1	1070	c.960C>T	c.(958-960)tcC>tcT	p.S320S	FGD5_ENST00000543601.1_Silent_p.S79S	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	320	Glu-rich.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.S79S(1)|p.S320S(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AGGATGAGTCCGCCGAGGAGA	0.552													C|||	2	0.000399361	0	0.0029	5008	,	,		18129	0		0	False		,,,				2504	0					ENST00000285046.5																			2	Substitution - coding silent(2)	p.S79S(1)|p.S320S(1)	endometrium(2)	NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(958-960)tcC>tcT		FYVE, RhoGEF and PH domain containing 5		C		2,4032		0,2,2015	64	71	68		960	-4.7	0.0	3		68	7,8363		0,7,4178	no	coding-synonymous	FGD5	NM_152536.3		0,9,6193	TT,TC,CC		0.0836,0.0496,0.0726		320/1463	14861538	9,12395	2017	4185	6202	SO:0001819	synonymous_variant	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14861538C>T	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.960C>T	3.37:g.14861538C>T						FGD5_ENST00000543601.1_Silent_p.S79S	p.S320S	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN			1	1070	+			320			Glu-rich.		B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP	ENST00000285046.5	37	c.960C>T	CCDS46767.1																																																																																				0.552	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		15	166	0	0	0	1	0	15	166					T	14861538	C	T	14861538	2	4	370	1	0	0	0	0	0	0	0	1	5836	639	23	1		1	FGD5	3	14861538	Silent	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08		14861538	183160892	7	7785											
SCN5A	6331	broad.mit.edu	37	chr3	38651442	38651442	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gactggatcagggcccccacGatggtcttcagccctgggga	14	13	3	0	rs41285129	byFrequency	TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr3:38651442G>A	ENST00000333535.4	-	7	866	c.717C>T	c.(715-717)atC>atT	p.I239I	SCN5A_ENST00000425664.1_Silent_p.I239I|SCN5A_ENST00000449557.2_Silent_p.I239I|SCN5A_ENST00000414099.2_Silent_p.I239I|SCN5A_ENST00000413689.1_Silent_p.I239I|SCN5A_ENST00000423572.2_Silent_p.I239I|SCN5A_ENST00000455624.2_Silent_p.I239I|SCN5A_ENST00000443581.1_Silent_p.I239I|SCN5A_ENST00000450102.2_Silent_p.I239I|SCN5A_ENST00000451551.2_Silent_p.I239I			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	239					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)	GGGCCCCCACGATGGTCTTCA	0.617													G|||	7	0.00139776	0	0.0029	5008	,	,		17600	0		0.005	False		,,,				2504	0					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.(715-717)atC>atT		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)	G	,,,,,	4,4324		0,4,2160	68	73	71		717,717,717,717,717,717	0.2	1.0	3	dbSNP_127	71	57,8499		0,57,4221	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SCN5A	NM_000335.4,NM_001099404.1,NM_001099405.1,NM_001160160.1,NM_001160161.1,NM_198056.2	,,,,,	0,61,6381	AA,AG,GG		0.6662,0.0924,0.4735	,,,,,	239/2016,239/2017,239/1999,239/1984,239/1963,239/2017	38651442	61,12823	2164	4278	6442	SO:0001819	synonymous_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.chr3:38651442G>A	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.717C>T	3.37:g.38651442G>A						SCN5A_ENST00000455624.2_Silent_p.I239I|SCN5A_ENST00000414099.2_Silent_p.I239I|SCN5A_ENST00000449557.2_Silent_p.I239I|SCN5A_ENST00000333535.4_Silent_p.I239I|SCN5A_ENST00000450102.2_Silent_p.I239I|SCN5A_ENST00000443581.1_Silent_p.I239I|SCN5A_ENST00000423572.2_Silent_p.I239I|SCN5A_ENST00000425664.1_Silent_p.I239I|SCN5A_ENST00000451551.2_Silent_p.I239I	p.I239I	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)	7	910	-	Medulloblastoma(35;0.163)		239					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	c.717C>T	CCDS46796.1																																																																																				0.617	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		5	153	0	0	0	1	0	5	153					A	38651442	G	A	38651442	2	1	370	1	0	0	0	0	0	0	0	1	13922	1048	37	1		1	SCN5A	3	38651442	Silent	SNP	G	TCGA-ET-A39M-01A-11D-A19J-08	23789904	38651442	159370988	8	7786											
NISCH	11188	broad.mit.edu	37	chr3	52526279	52526279	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacccgcaggccctcaccctCgtcttcgatgacgtgcaagg	10	16	2	1	rs61737697	byFrequency	TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr3:52526279C>T	ENST00000479054.1	+	22	4368	c.4296C>T	c.(4294-4296)ctC>ctT	p.L1432L	NISCH_ENST00000345716.4_Silent_p.L1432L			Q9Y2I1	NISCH_HUMAN	nischarin	1432					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	CCCTCACCCTCGTCTTCGATG	0.672													C|||	3	0.000599042	0	0	5008	,	,		19626	0		0.003	False		,,,				2504	0					ENST00000345716.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(4294-4296)ctC>ctT		nischarin		C		4,4402	8.1+/-20.4	0,4,2199	129	127	128		4296	-10.7	0.2	3	dbSNP_129	128	19,8581	14.6+/-50.1	1,17,4282	no	coding-synonymous	NISCH	NM_007184.3		1,21,6481	TT,TC,CC		0.2209,0.0908,0.1768		1432/1505	52526279	23,12983	2203	4300	6503	SO:0001819	synonymous_variant	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52526279C>T	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"imidazoline receptor candidate", "I-1 receptor candidate protein", "imidazoline receptor antisera selected"	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.4296C>T	3.37:g.52526279C>T						NISCH_ENST00000479054.1_Silent_p.L1432L	p.L1432L	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	21	4430	+			1432					C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Silent	SNP	ENST00000479054.1	37	c.4296C>T	CCDS33767.1																																																																																				0.672	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		14	371	0	0	0	1	0	14	371					T	52526279	C	T	52526279	2	4	370	1	0	0	0	0	0	0	0	1	10432	871	31	1		1	NISCH	3	52526279	Silent	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08	13874837	52526279	145496151	9	7787											
PDZRN3	23024	broad.mit.edu	37	chr3	73433272	73433272	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggtaggggtgcccacttcGggatcttccgtgatggagag	16	8	1	2	rs61739225	byFrequency	TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr3:73433272G>A	ENST00000263666.4	-	10	2559	c.2445C>T	c.(2443-2445)ccC>ccT	p.P815P	PDZRN3_ENST00000535920.1_Silent_p.P537P|PDZRN3_ENST00000479530.1_Silent_p.P532P|PDZRN3_ENST00000462146.2_Silent_p.P472P|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000466780.1_Silent_p.P472P	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	815					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TGCCCACTTCGGGATCTTCCG	0.662													G|||	4	0.000798722	0	0	5008	,	,		15640	0		0.004	False		,,,				2504	0					ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(2443-2445)ccC>ccT		PDZ domain containing ring finger 3		G		3,4403	6.2+/-15.9	0,3,2200	56	61	59		2445	0.3	0.9	3	dbSNP_129	59	26,8574	18.5+/-59.3	0,26,4274	no	coding-synonymous	PDZRN3	NM_015009.1		0,29,6474	AA,AG,GG		0.3023,0.0681,0.223		815/1067	73433272	29,12977	2203	4300	6503	SO:0001819	synonymous_variant	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433272G>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"RING-type (C3HC4) zinc fingers"	17704	protein-coding gene	gene with protein product	"likely ortholog of mouse semaF cytoplasmic domain associated protein 3"	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2445C>T	3.37:g.73433272G>A						PDZRN3_ENST00000479530.1_Silent_p.P532P|PDZRN3_ENST00000466780.1_Silent_p.P472P|PDZRN3_ENST00000535920.1_Silent_p.P537P|PDZRN3_ENST00000462146.2_Silent_p.P472P	p.P815P	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2559	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	815					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	ENST00000263666.4	37	c.2445C>T	CCDS33789.1																																																																																				0.662	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		10	159	0	0	0	1	0	10	159					A	73433272	G	A	73433272	2	1	370	1	0	0	0	0	0	0	0	1	11709	1103	39	1		1	PDZRN3	3	73433272	Silent	SNP	G	TCGA-ET-A39M-01A-11D-A19J-08	20906993	73433272	124589158	10	7788											
PDS5A	23244	broad.mit.edu	37	chr4	39918684	39918684	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacctttagtttgaattcaAgctgtggcatgacggataat	9	6	1	2			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr4:39918684A>G	ENST00000303538.8	-	8	1399	c.860T>C	c.(859-861)cTt>cCt	p.L287P	PDS5A_ENST00000503396.1_Missense_Mutation_p.L287P	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						TTTGAATTCAAGCTGTGGCAT	0.313																																						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.(859-861)cTt>cCt		PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)							52	45	47					4																	39918684		1818	4076	5894	SO:0001583	missense	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39918684A>G	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.860T>C	4.37:g.39918684A>G	ENSP00000303427:p.Leu287Pro					PDS5A_ENST00000503396.1_Missense_Mutation_p.L287P	p.L287P	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN			8	1399	-			287						Missense_Mutation	SNP	ENST00000303538.8	37	c.860T>C	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.251541	0.80135	.	.	ENSG00000121892	ENST00000303538;ENST00000503396	T;T	0.77489	-1.01;-1.1	5.61	5.61	0.85477	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.88321	0.6405	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89003	0.3423	9	.	.	.	-12.2549	15.8027	0.78468	1.0:0.0:0.0:0.0	.	287;287	Q29RF7-3;Q29RF7	.;PDS5A_HUMAN	P	287	ENSP00000303427:L287P;ENSP00000426749:L287P	.	L	-	2	0	PDS5A	39595079	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.335000	0.96500	2.127000	0.65507	0.477000	0.44152	CTT		0.313	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		3	24	0	0	0	1	0	3	24					G	39918684	A	G	39918684	3	3	370	1	0	0	0	0	1	0	0	0	11691	72	3	3	3290	3	PDS5A	4	39918684	Missense_Mutation	SNP	A	TCGA-ET-A39M-01A-11D-A19J-08		39918684	151235592	11	7789											
PCDHB16	57717	broad.mit.edu	37	chr5	140563385	140563385	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagaagcaagagctgaataTaatatcaccctcaccgtcac	7	11	3	3	rs115003049	byFrequency	TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr5:140563385T>C	ENST00000361016.2	+	1	2406	c.1251T>C	c.(1249-1251)taT>taC	p.Y417Y		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	417	Cadherin 4. {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)			GAGCTGAATATAATATCACCC	0.458													T|||	8	0.00159744	0.0015	0	5008	,	,		21655	0		0.006	False		,,,				2504	0					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.(1249-1251)taT>taC				T		8,4398	14.3+/-33.2	0,8,2195	102	104	104		1251	-1.0	0.5	5	dbSNP_132	104	55,8545	34.8+/-89.0	0,55,4245	no	coding-synonymous	PCDHB16	NM_020957.1		0,63,6440	CC,CT,TT		0.6395,0.1816,0.4844		417/777	140563385	63,12943	2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140563385T>C	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.1251T>C	5.37:g.140563385T>C							p.Y417Y	NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2406	+			417			Cadherin 4.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	c.1251T>C	CCDS4251.1																																																																																				0.458	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		10	215	0	0	0	1	0	10	215					C	140563385	T	C	140563385	2	2	370	1	0	0	0	0	0	0	0	1	11541	1413	49	3		3	PCDHB16	5	140563385	Silent	SNP	T	TCGA-ET-A39M-01A-11D-A19J-08		140563385	40351875	12	7790											
TCTE1	202500	broad.mit.edu	37	chr6	44250215	44250215	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgtgacaagtccagctcctCgaggactgggtggtccagaa	13	10	0	2	rs146833594	byFrequency	TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr6:44250215C>T	ENST00000371505.4	-	4	1050	c.928G>A	c.(928-930)Gag>Aag	p.E310K	TCTE1_ENST00000371504.1_Intron|TCTE1_ENST00000371503.3_Intron|RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	310										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCCAGCTCCTCGAGGACTGGG	0.572													C|||	7	0.00139776	0	0.0014	5008	,	,		21393	0		0.001	False		,,,				2504	0.0051					ENST00000371505.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(928-930)Gag>Aag		t-complex-associated-testis-expressed 1		C	LYS/GLU	3,4403	6.2+/-15.9	0,3,2200	107	96	100		928	2.5	0.9	6	dbSNP_134	100	33,8567	22.8+/-68.1	0,33,4267	yes	missense	TCTE1	NM_182539.3	56	0,36,6467	TT,TC,CC		0.3837,0.0681,0.2768	benign	310/502	44250215	36,12970	2203	4300	6503	SO:0001583	missense	202500							g.chr6:44250215C>T	BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.928G>A	6.37:g.44250215C>T	ENSP00000360560:p.Glu310Lys					TCTE1_ENST00000371504.1_Intron|TCTE1_ENST00000371503.3_Intron|TMEM151B_ENST00000438774.2_Intron	p.E310K	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		4	1050	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		310					B4DX59|Q8IYS6	Missense_Mutation	SNP	ENST00000371505.4	37	c.928G>A	CCDS4910.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	C	1.570	-0.534484	0.04082	6.81E-4	0.003837	ENSG00000146221	ENST00000371505	T	0.52057	0.68	5.37	2.46	0.29980	.	0.569355	0.20252	N	0.096041	T	0.06050	0.0157	N	0.12663	0.25	0.09310	N	1	P	0.39520	0.676	B	0.32289	0.143	T	0.24584	-1.0156	10	0.06236	T	0.91	-28.2293	3.8673	0.09021	0.1246:0.5587:0.1215:0.1952	.	310	Q5JU00	TCTE1_HUMAN	K	310	ENSP00000360560:E310K	ENSP00000360560:E310K	E	-	1	0	TCTE1	44358193	0.016000	0.18221	0.859000	0.33776	0.397000	0.30659	0.446000	0.21694	1.424000	0.47217	0.455000	0.32223	GAG		0.572	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539		7	168	0	0	0	1	0	7	168					T	44250215	C	T	44250215	3	4	370	1	0	0	0	0	1	0	0	0	15714	893	31	1	585	1	TCTE1	6	44250215	Missense_Mutation	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08		44250215	126864852	13	7791											
C6orf174	387104	broad.mit.edu	37	chr6	127837687	127837687	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctccgggtgcagacgagCctcagtggctgcagcggcgg	17	14	1	1			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr6:127837687C>T	ENST00000525778.1	-	2	818	c.73G>A	c.(73-75)Gct>Act	p.A25T	SOGA3_ENST00000556132.1_Missense_Mutation_p.A25T|SOGA3_ENST00000465909.2_Missense_Mutation_p.A25T|SOGA3_ENST00000481848.2_Missense_Mutation_p.A25T|SOGA3_ENST00000368268.2_Missense_Mutation_p.A25T			Q5TF21	SOGA3_HUMAN	SOGA family member 3	25					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TGCAGACGAGCCTCAGTGGCT	0.647																																						ENST00000556132.1																			0											c.(73-75)Gct>Act		SOGA family member 3							13	16	15					6																	127837687		2048	4185	6233	SO:0001583	missense	387104					integral to membrane		g.chr6:127837687C>T	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 174"	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.73G>A	6.37:g.127837687C>T	ENSP00000434570:p.Ala25Thr					SOGA3_ENST00000465909.2_Missense_Mutation_p.A25T|SOGA3_ENST00000525778.1_Missense_Mutation_p.A25T|SOGA3_ENST00000481848.2_Missense_Mutation_p.A25T|SOGA3_ENST00000368268.2_Missense_Mutation_p.A25T	p.A25T	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN			2	937	-			25						Missense_Mutation	SNP	ENST00000525778.1	37	c.73G>A	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.064870	0.36470	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	5.79	4.88	0.63580	.	0.181905	0.37715	N	0.001966	T	0.15132	0.0365	N	0.14661	0.345	0.36775	D	0.883995	B	0.31318	0.319	B	0.34138	0.176	T	0.06935	-1.0799	10	0.35671	T	0.21	-6.048	17.5015	0.87733	0.0:0.8653:0.1347:0.0	.	25	Q5TF21	CF174_HUMAN	T	25	ENSP00000451768:A25T;ENSP00000357251:A25T;ENSP00000434570:A25T;ENSP00000435559:A25T	ENSP00000435559:A25T	A	-	1	0	C6orf174	127879380	1.000000	0.71417	0.997000	0.53966	0.226000	0.24999	0.799000	0.27028	2.735000	0.93741	0.561000	0.74099	GCT		0.647	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		4	27	0	0	0	1	0	4	27					T	127837687	C	T	127837687	3	4	370	1	0	0	0	0	1	0	0	0	2345	739	26	2	2794	2	C6orf174	6	127837687	Missense_Mutation	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08	83587472	127837687	43277380	14	7792											
LRWD1	222229	broad.mit.edu	37	chr7	102110079	102110079	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtgcccaaccaggactaCgaattccaggccaggtgatg	14	11	0	1	rs142392925	byFrequency	TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr7:102110079C>T	ENST00000292616.5	+	10	1439	c.1287C>T	c.(1285-1287)taC>taT	p.Y429Y	MIR4467_ENST00000578629.1_RNA	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	429					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						ACCAGGACTACGAATTCCAGG	0.632													C|||	2	0.000399361	0	0	5008	,	,		17702	0		0.002	False		,,,				2504	0					ENST00000292616.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						c.(1285-1287)taC>taT		leucine-rich repeats and WD repeat domain containing 1		C		1,4405	2.1+/-5.4	0,1,2202	125	111	116		1287	-4.7	0.0	7	dbSNP_134	116	14,8586	11.2+/-40.8	0,14,4286	no	coding-synonymous	LRWD1	NM_152892.1		0,15,6488	TT,TC,CC		0.1628,0.0227,0.1153		429/648	102110079	15,12991	2203	4300	6503	SO:0001819	synonymous_variant	222229				chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding	g.chr7:102110079C>T	AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"WD repeat domain containing"	21769	protein-coding gene	gene with protein product	"origin recognition complex associated", "centromere protein 33"	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.1287C>T	7.37:g.102110079C>T							p.Y429Y	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN			10	1439	+			429					A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Silent	SNP	ENST00000292616.5	37	c.1287C>T	CCDS34715.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	6.553	0.470270	0.12461	2.27E-4	0.001628	ENSG00000161036	ENST00000488689;ENST00000468175	.	.	.	4.61	-4.65	0.03339	.	.	.	.	.	T	0.49029	0.1533	.	.	.	0.54753	D	0.99998	.	.	.	.	.	.	T	0.44620	-0.9316	4	.	.	.	-8.9171	6.8738	0.24135	0.1087:0.4283:0.0:0.463	.	.	.	.	M	58;15	.	.	T	+	2	0	LRWD1	101897084	0.010000	0.17322	0.008000	0.14137	0.928000	0.56348	-1.134000	0.03228	-1.466000	0.01897	-0.424000	0.05967	ACG		0.632	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349493.1	NM_152892		7	144	0	0	0	1	0	7	144					T	102110079	C	T	102110079	2	4	370	1	0	0	0	0	0	0	0	1	9047	547	19	1		1	LRWD1	7	102110079	Silent	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08		102110079	57028584	15	7793											
LAMB4	22798	broad.mit.edu	37	chr7	107752270	107752270	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcataccattttcagattgcCaccatttcttttctctgtct	3	12	5	1			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr7:107752270C>T	ENST00000388781.3	-	4	397	c.314G>A	c.(313-315)tGg>tAg	p.W105*	LAMB4_ENST00000388780.3_Nonsense_Mutation_p.W105*|LAMB4_ENST00000418464.1_Nonsense_Mutation_p.W105*|LAMB4_ENST00000414450.2_Nonsense_Mutation_p.W105*|LAMB4_ENST00000205386.4_Nonsense_Mutation_p.W105*	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	105	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTCAGATTGCCACCATTTCTT	0.348																																						ENST00000388781.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(313-315)tGg>tAg		laminin, beta 4							174	165	168					7																	107752270		2203	4300	6503	SO:0001587	stop_gained	22798				cell adhesion	basement membrane		g.chr7:107752270C>T	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.314G>A	7.37:g.107752270C>T	ENSP00000373433:p.Trp105*					LAMB4_ENST00000414450.2_Nonsense_Mutation_p.W105*|LAMB4_ENST00000388780.3_Nonsense_Mutation_p.W105*|LAMB4_ENST00000205386.4_Nonsense_Mutation_p.W105*	p.W105*	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN			4	397	-			105			Laminin N-terminal.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Nonsense_Mutation	SNP	ENST00000388781.3	37	c.314G>A	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	35	5.457108	0.96223	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	.	.	.	5.35	5.35	0.76521	.	0.127189	0.36778	N	0.002401	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.6142	0.95626	0.0:1.0:0.0:0.0	.	.	.	.	X	105	.	ENSP00000205386:W105X	W	-	2	0	LAMB4	107539506	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	4.617000	0.61204	2.941000	0.99782	0.655000	0.94253	TGG		0.348	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		12	219	0	0	0	1	0	12	219					T	107752270	C	T	107752270	4	4	370	1	0	0	0	0	0	1	0	0	8613	595	21	2	5095	2	LAMB4	7	107752270	Nonsense_Mutation	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08	5642191	107752270	51386393	16	7794											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		51	174	0	0	0	1	0	51	174					T	140453136	A	T	140453136	3	4	370	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A39M-01A-11D-A19J-08	32700866	140453136	18685527	17	7795											
ZNF212	7988	broad.mit.edu	37	chr7	148947484	148947484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagatggccgtggagttcGggaaccagctggagggcaag	18	7	0	2			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr7:148947484G>A	ENST00000335870.2	+	2	387	c.259G>A	c.(259-261)Ggg>Agg	p.G87R		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	87					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			CGTGGAGTTCGGGAACCAGCT	0.652																																						ENST00000335870.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9						c.(259-261)Ggg>Agg		zinc finger protein 212							72	76	75					7																	148947484		2203	4300	6503	SO:0001583	missense	7988				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr7:148947484G>A	U38864	CCDS5896.1	7q36.1	2013-01-08			ENSG00000170260	ENSG00000170260		"Zinc fingers, C2H2-type", "-"	13004	protein-coding gene	gene with protein product		602386				9169157	Standard	NM_012256		Approved	C2H2-150	uc003wfp.3	Q9UDV6	OTTHUMG00000158968	ENST00000335870.2:c.259G>A	7.37:g.148947484G>A	ENSP00000338572:p.Gly87Arg						p.G87R	NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)		2	387	+	Melanoma(164;0.15)		87					B2RCF4|Q13396|Q8N664	Missense_Mutation	SNP	ENST00000335870.2	37	c.259G>A	CCDS5896.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.252700	0.59212	.	.	ENSG00000170260	ENST00000335870	T	0.23147	1.92	5.95	3.12	0.35913	.	0.374680	0.23360	N	0.049035	T	0.42245	0.1194	M	0.65498	2.005	0.27563	N	0.950113	D	0.89917	1.0	D	0.76071	0.987	T	0.25641	-1.0126	10	0.56958	D	0.05	-14.6209	5.0676	0.14591	0.1746:0.0:0.6592:0.1662	.	87	Q9UDV6	ZN212_HUMAN	R	87	ENSP00000338572:G87R	ENSP00000338572:G87R	G	+	1	0	ZNF212	148578417	0.996000	0.38824	0.234000	0.24042	0.697000	0.40408	2.511000	0.45476	0.387000	0.25024	0.563000	0.77884	GGG		0.652	ZNF212-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352710.1	NM_012256		8	236	0	0	0	1	0	8	236					A	148947484	G	A	148947484	3	1	370	1	0	0	0	0	1	0	0	0	17765	1116	39	1	265	1	ZNF212	7	148947484	Missense_Mutation	SNP	G	TCGA-ET-A39M-01A-11D-A19J-08	8494348	148947484	10191179	18	7796											
ZNF704	619279	broad.mit.edu	37	chr8	81733713	81733713	+	Frame_Shift_Del	DEL	T	T	-													tggtcaaggatccggctggcTtttttggtgtctgctgtttt							TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr8:81733713delT	ENST00000327835.3	-	2	348	c.117delA	c.(115-117)aaafs	p.K39fs		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	39							metal ion binding (GO:0046872)			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TCCGGCTGGCTTTTTTGGTGT	0.428																																						ENST00000327835.3																			0				lung(9)|skin(1)|upper_aerodigestive_tract(1)	11						c.(115-117)aafs		zinc finger protein 704							329	308	315					8																	81733713		2203	4300	6503	SO:0001589	frameshift_variant	619279					intracellular	zinc ion binding	g.chr8:81733713delT	AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684			32291	protein-coding gene	gene with protein product							Standard	NM_001033723		Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.117delA	8.37:g.81733713delT	ENSP00000331462:p.Lys39fs						p.K39fs	NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)		2	348	-	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		39					B2RNE6|B9EGW6	Frame_Shift_Del	DEL	ENST00000327835.3	37	c.117delA	CCDS34913.1																																																																																				0.428	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379964.2	NM_001033723		8	970						8	970	---	---	---	---	-	81733713	T	-	81733713	7	5	370	1	0	1	0	1	0	0	0	0	18104	1606	56	0	1153	0	ZNF704	8	81733713	Frame_Shift_Del	DEL	T	TCGA-ET-A39M-01A-11D-A19J-08		81733713	64630309	19	7797											
GPIHBP1	338328	broad.mit.edu	37	chr8	144296991	144296991	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacaaccctcattgcccaCgggaacaccggtaagtgggc	11	14	1	0	rs138215873	byFrequency	TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr8:144296991C>T	ENST00000330824.2	+	3	360	c.285C>T	c.(283-285)caC>caT	p.H95H		NM_178172.3	NP_835466.1	Q8IV16	HDBP1_HUMAN	glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1	95	UPAR/Ly6.				cholesterol homeostasis (GO:0042632)|intracellular protein transport (GO:0006886)|positive regulation of chylomicron remnant clearance (GO:0090321)|positive regulation of lipoprotein lipase activity (GO:0051006)|protein import (GO:0017038)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|protein transmembrane transport (GO:0071806)|response to heparin (GO:0071503)|transcytosis (GO:0045056)|triglyceride homeostasis (GO:0070328)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|external side of plasma membrane (GO:0009897)|high-density lipoprotein particle (GO:0034364)	chylomicron binding (GO:0035478)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|protein transmembrane transporter activity (GO:0008320)			lung(2)	2	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TCATTGCCCACGGGAACACCG	0.667													c|||	3	0.000599042	8e-04	0.0014	5008	,	,		15439	0		0.001	False		,,,				2504	0					ENST00000330824.2																			0				lung(2)	2						c.(283-285)caC>caT		glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1				3,4401	6.2+/-15.9	0,3,2199	62	50	54		285	2.1	0.0	8	dbSNP_134	54	29,8567	20.4+/-63.3	0,29,4269	no	coding-synonymous	GPIHBP1	NM_178172.3		0,32,6468	TT,TC,CC		0.3374,0.0681,0.2462		95/185	144296991	32,12968	2202	4298	6500	SO:0001819	synonymous_variant	338328				cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity	g.chr8:144296991C>T	AF088057	CCDS34954.1	8q24.3	2014-07-14	2008-02-07						24945	protein-coding gene	gene with protein product	"endothelial cell LPL transporter"	612757	"GPI anchored high density lipoprotein binding protein 1"			12496272, 17883852, 17620854, 17403372	Standard	NM_178172		Approved	LOC338328, GPI-HBP1	uc003yxu.2	Q8IV16		ENST00000330824.2:c.285C>T	8.37:g.144296991C>T							p.H95H	NM_178172.3	NP_835466.1	Q8IV16	HDBP1_HUMAN			3	360	+	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		95			UPAR/Ly6.		Q6P3T2|Q86W15	Silent	SNP	ENST00000330824.2	37	c.285C>T	CCDS34954.1																																																																																				0.667	GPIHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381113.1	NM_178172		5	57	0	0	0	1	0	5	57					T	144296991	C	T	144296991	2	4	370	1	0	0	0	0	0	0	0	1	6612	535	19	1		1	GPIHBP1	8	144296991	Silent	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08	62563278	144296991	2067031	20	7798											
EEF1D	1936	broad.mit.edu	37	chr8	144671277	144671277	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgtggtggcggcactcGgcgctgtcgtaggcaggctt	18	11	0	0	rs373708948		TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr8:144671277G>A	ENST00000529272.1	-	2	397				EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000423316.2_Silent_p.A325A|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000532741.1_Silent_p.A375A|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000442189.2_Silent_p.A325A|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000419152.2_Intron			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGCGGCACTCGGCGCTGTCGT	0.692																																						ENST00000532741.1																			0				breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1123-1125)gcC>gcT		eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)		G	,,,,,,	0,4392		0,0,2196	19	20	20		975,,,,,,975	-9.8	0.3	8		20	1,8589		0,1,4294	no	coding-synonymous,intron,intron,intron,intron,intron,coding-synonymous	EEF1D	NM_001130053.2,NM_001130055.2,NM_001130056.2,NM_001130057.2,NM_001195203.1,NM_001960.4,NM_032378.4	,,,,,,	0,1,6490	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,	325/648,,,,,,325/648	144671277	1,12981	2196	4295	6491	SO:0001627	intron_variant	1936				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity	g.chr8:144671277G>A	AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.4-2258C>T	8.37:g.144671277G>A						EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000423316.2_Silent_p.A325A|EEF1D_ENST00000442189.2_Silent_p.A325A|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000532400.1_Intron	p.A375A			P29692	EF1D_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		1	1353	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		0					B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Silent	SNP	ENST00000529272.1	37	c.1125C>T	CCDS6405.1																																																																																				0.692	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2	NM_032378		3	28	0	0	0	1	0	3	28					A	144671277	G	A	144671277	1	1	370	0	1	0	0	0	0	0	0	0	4926	1103	39	1		1	EEF1D	8	144671277	Intron	SNP	G	TCGA-ET-A39M-01A-11D-A19J-08	374286	144671277	1692745	21	7799											
GPR172A	79581	broad.mit.edu	37	chr8	145583505	145583505	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtggccttcttagcactggCctttgtgctggcactggcat	12	11	1	0	rs117500243	byFrequency	TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr8:145583505C>A	ENST00000532887.1	+	3	936	c.353C>A	c.(352-354)gCc>gAc	p.A118D	SLC52A2_ENST00000530047.1_Missense_Mutation_p.A118D|FBXL6_ENST00000331890.5_5'Flank|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000540505.1_Missense_Mutation_p.A30D|SLC52A2_ENST00000527078.1_Missense_Mutation_p.A118D|SLC52A2_ENST00000526891.1_3'UTR|SLC52A2_ENST00000402965.1_Missense_Mutation_p.A118D|FBXL6_ENST00000526524.1_5'Flank|SLC52A2_ENST00000329994.2_Missense_Mutation_p.A118D|FBXL6_ENST00000455319.2_5'Flank			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	118					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	TTAGCACTGGCCTTTGTGCTG	0.592													C|||	7	0.00139776	8e-04	0.0014	5008	,	,		19045	0		0.004	False		,,,				2504	0.001					ENST00000532887.1																			0											c.(352-354)gCc>gAc		solute carrier family 52 (riboflavin transporter), member 2		C	ASP/ALA	5,4401	9.9+/-24.2	0,5,2198	154	143	147		353	3.5	0.0	8	dbSNP_132	147	35,8565	24.0+/-70.4	0,35,4265	yes	missense	GPR172A	NM_024531.3	126	0,40,6463	AA,AC,CC		0.407,0.1135,0.3076	possibly-damaging	118/446	145583505	40,12966	2203	4300	6503	SO:0001583	missense	79581					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr8:145583505C>A	AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"Solute carriers"	30224	protein-coding gene	gene with protein product		607882	"G protein-coupled receptor 172A"	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.353C>A	8.37:g.145583505C>A	ENSP00000436768:p.Ala118Asp					SLC52A2_ENST00000526891.1_3'UTR|SLC52A2_ENST00000402965.1_Missense_Mutation_p.A118D|SLC52A2_ENST00000329994.2_Missense_Mutation_p.A118D|SLC52A2_ENST00000540505.1_Missense_Mutation_p.A30D|SLC52A2_ENST00000530047.1_Missense_Mutation_p.A118D|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000527078.1_Missense_Mutation_p.A118D	p.A118D			Q9HAB3	RFT3_HUMAN			3	936	+			118					A8K6B6|D3DWL8|G1UCY1|Q86UT1	Missense_Mutation	SNP	ENST00000532887.1	37	c.353C>A	CCDS6423.1	5	0.0022893772893772895	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	C	10.54	1.379659	0.24944	0.001135	0.00407	ENSG00000185803	ENST00000530047;ENST00000527078;ENST00000402965;ENST00000534725;ENST00000532887;ENST00000329994;ENST00000540505	D;D;D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03	3.55	3.55	0.40652	.	0.281421	0.33980	N	0.004375	T	0.81683	0.4874	M	0.70275	2.135	0.35336	D	0.786042	P	0.43477	0.808	B	0.39419	0.299	D	0.85152	0.0987	9	.	.	.	.	8.8481	0.35184	0.0:0.7687:0.2313:0.0	.	118	Q9HAB3	RFT3_HUMAN	D	118;118;118;118;118;118;30	ENSP00000435820:A118D;ENSP00000434728:A118D;ENSP00000385961:A118D;ENSP00000431965:A118D;ENSP00000436768:A118D;ENSP00000333638:A118D;ENSP00000440400:A30D	.	A	+	2	0	GPR172A	145554313	0.972000	0.33761	0.008000	0.14137	0.090000	0.18270	3.652000	0.54439	1.821000	0.53095	0.462000	0.41574	GCC		0.592	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1	NM_024531		10	256	1	0	2.17888e-05	1	2.29355e-05	10	256					A	145583505	C	A	145583505	3	1	370	1	0	0	0	0	1	0	0	0	6669	739	26	4	359	4	GPR172A	8	145583505	Missense_Mutation	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08	912228	145583505	780517	22	7800											
C9orf50	375759	broad.mit.edu	37	chr9	132375757	132375757	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggagctggccagggtctcctCcttggccccagggtacaggg	16	13	1	0	rs368047969		TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr9:132375757C>T	ENST00000372478.4	-	5	1201	c.1000G>A	c.(1000-1002)Gag>Aag	p.E334K	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	334										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				AGGGTCTCCTCCTTGGCCCCA	0.662																																						ENST00000372478.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(1000-1002)Gag>Aag		chromosome 9 open reading frame 50		C	LYS/GLU	0,4406		0,0,2203	49	48	48		1000	1.4	0.0	9		48	1,8599	1.2+/-3.3	0,1,4299	no	missense	C9orf50	NM_199350.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	334/432	132375757	1,13005	2203	4300	6503	SO:0001583	missense	375759							g.chr9:132375757C>T	AK093122	CCDS35159.1	9q34.2	2012-03-15			ENSG00000179058	ENSG00000179058			23677	protein-coding gene	gene with protein product							Standard	NM_199350		Approved	FLJ35803	uc004byc.4	Q5SZB4	OTTHUMG00000020786	ENST00000372478.4:c.1000G>A	9.37:g.132375757C>T	ENSP00000361556:p.Glu334Lys					NTMT1_ENST00000372486.1_Intron	p.E334K	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN			5	1201	-		Ovarian(14;0.00556)	334					Q2M1I2|Q8NA65	Missense_Mutation	SNP	ENST00000372478.4	37	c.1000G>A	CCDS35159.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889865	0.72524	0.0	1.16E-4	ENSG00000179058	ENST00000372478	T	0.22336	1.96	3.27	1.39	0.22231	.	1.192960	0.06388	N	0.716614	T	0.12987	0.0315	N	0.24115	0.695	0.09310	N	1	P	0.37101	0.582	B	0.32583	0.148	T	0.26467	-1.0102	10	0.62326	D	0.03	-6.7488	4.521	0.11959	0.0:0.5837:0.2771:0.1391	.	334	Q5SZB4	CI050_HUMAN	K	334	ENSP00000361556:E334K	ENSP00000361556:E334K	E	-	1	0	C9orf50	131415578	0.041000	0.20044	0.013000	0.15412	0.512000	0.34134	1.033000	0.30191	0.401000	0.25424	0.456000	0.33151	GAG		0.662	C9orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054593.1	NM_199350		8	100	0	0	0	1	0	8	100					T	132375757	C	T	132375757	3	4	370	1	0	0	0	0	1	0	0	0	2487	864	30	2	307	2	C9orf50	9	132375757	Missense_Mutation	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08		132375757	8837674	23	7801											
TMEM8C	389827	broad.mit.edu	37	chr9	136389882	136389882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggcctccatgtggaaccGcctcttggccgcgatgctga	12	14	1	1	rs546271887		TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr9:136389882G>A	ENST00000339996.3	-	1	186	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W	TMEM8C_ENST00000413714.1_Intron	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	29					muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|plasma membrane fusion (GO:0045026)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						ATGTGGAACCGCCTCTTGGCC	0.652																																						ENST00000339996.3																			0				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						c.(85-87)Cgg>Tgg		transmembrane protein 8C							100	75	83					9																	136389882		2203	4300	6503	SO:0001583	missense	389827					integral to membrane		g.chr9:136389882G>A	BX324209	CCDS35170.1	9q34.2	2009-06-19		2009-06-19	ENSG00000187616	ENSG00000187616			33778	protein-coding gene	gene with protein product	"transmembrane protein 226"	615345					Standard	NM_001080483		Approved	TMEM226	uc011mdk.2	A6NI61	OTTHUMG00000131685	ENST00000339996.3:c.85C>T	9.37:g.136389882G>A	ENSP00000419712:p.Arg29Trp					TMEM8C_ENST00000413714.1_Intron	p.R29W	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN			1	186	-			29						Missense_Mutation	SNP	ENST00000339996.3	37	c.85C>T	CCDS35170.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.852776	0.51270	.	.	ENSG00000187616	ENST00000339996	T	0.50548	0.74	4.38	3.36	0.38483	.	0.231842	0.35555	N	0.003140	T	0.46600	0.1401	M	0.64404	1.975	0.09310	N	1	D	0.56035	0.974	B	0.43990	0.438	T	0.47129	-0.9141	10	0.41790	T	0.15	-25.7399	13.154	0.59505	0.0:0.0:0.7322:0.2678	.	29	A6NI61	TMM8C_HUMAN	W	29	ENSP00000419712:R29W	ENSP00000419712:R29W	R	-	1	2	TMEM8C	135379703	0.011000	0.17503	0.162000	0.22713	0.984000	0.73092	1.943000	0.40253	2.002000	0.58637	0.484000	0.47621	CGG		0.652	TMEM8C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356200.2	NM_001080483		5	129	0	0	0	1	0	5	129					A	136389882	G	A	136389882	3	1	370	1	0	0	0	0	1	0	0	0	16213	1086	38	1	600	1	TMEM8C	9	136389882	Missense_Mutation	SNP	G	TCGA-ET-A39M-01A-11D-A19J-08	4014125	136389882	4823549	24	7802											
NOTCH1	4851	broad.mit.edu	37	chr9	139410437	139410437	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcgccagcccgcaccttcCgtgcacacacaggtgtaagt	12	15	0	0	rs148331061	byFrequency	TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr9:139410437C>T	ENST00000277541.6	-	10	1740	c.1665G>A	c.(1663-1665)acG>acA	p.T555T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	555	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)		CCGCACCTTCCGTGCACACAC	0.632			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			C|||	16	0.00319489	0	0.0043	5008	,	,		16891	0		0.0119	False		,,,				2504	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.(1663-1665)acG>acA		notch 1		C		9,4043		0,9,2017	34	39	38		1665	-9.8	0.8	9	dbSNP_134	38	96,8252		0,96,4078	no	coding-synonymous	NOTCH1	NM_017617.3		0,105,6095	TT,TC,CC		1.15,0.2221,0.8468		555/2556	139410437	105,12295	2026	4174	6200	SO:0001819	synonymous_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.chr9:139410437C>T	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.1665G>A	9.37:g.139410437C>T		HNSCC(8;0.001)					p.T555T	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	10	1740	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	555			EGF-like 14; calcium-binding (Potential).		Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	c.1665G>A	CCDS43905.1																																																																																				0.632	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		4	58	0	0	0	1	0	4	58					T	139410437	C	T	139410437	2	4	370	1	0	0	0	0	0	0	0	1	10547	639	23	1		1	NOTCH1	9	139410437	Silent	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08	3020555	139410437	1802994	25	7803											
LDB3	11155	broad.mit.edu	37	chr10	88441336	88441336	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccctccgccttctcctcactCgccgaggcctctgaccctgg	8	21	3	1	rs45516997		TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr10:88441336C>T	ENST00000361373.4	+	4	486	c.465C>T	c.(463-465)ctC>ctT	p.L155L	LDB3_ENST00000372066.3_Intron|LDB3_ENST00000542786.1_Silent_p.L155L|LDB3_ENST00000310944.6_Silent_p.L155L|LDB3_ENST00000372056.4_Silent_p.L155L|LDB3_ENST00000458213.2_Intron|LDB3_ENST00000263066.6_Intron|LDB3_ENST00000429277.2_Silent_p.L155L|LDB3_ENST00000352360.5_Intron	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						TCTCCTCACTCGCCGAGGCCT	0.736													C|||	1	0.000199681	8e-04	0	5008	,	,		14425	0		0	False		,,,				2504	0					ENST00000429277.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						c.(463-465)ctC>ctT		LIM domain binding 3		C	,,,,,	0,4402		0,0,2201	22	23	23		,465,,465,465,465	2.9	0.0	10	dbSNP_127	23	23,8569		0,23,4273	no	intron,coding-synonymous,intron,coding-synonymous,coding-synonymous,coding-synonymous	LDB3	NM_001080114.1,NM_001080115.1,NM_001080116.1,NM_001171610.1,NM_001171611.1,NM_007078.2	,,,,,	0,23,6474	TT,TC,CC		0.2677,0.0,0.177	,,,,,	,155/331,,155/733,155/399,155/728	88441336	23,12971	2201	4296	6497	SO:0001819	synonymous_variant	11155					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	g.chr10:88441336C>T	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"cypher", "oracle", "Z-band alternatively spliced PDZ motif protein"	605906	"cardiomyopathy, dilated 1C (autosomal dominant)"	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.465C>T	10.37:g.88441336C>T						LDB3_ENST00000361373.4_Silent_p.L155L|LDB3_ENST00000263066.6_Intron|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000310944.6_Silent_p.L155L|LDB3_ENST00000372056.4_Silent_p.L155L|LDB3_ENST00000542786.1_Silent_p.L155L|LDB3_ENST00000372066.3_Intron|LDB3_ENST00000458213.2_Intron	p.L155L	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN			5	610	+			155						Silent	SNP	ENST00000361373.4	37	c.465C>T	CCDS7377.1																																																																																				0.736	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2			5	72	0	0	0	1	0	5	72					T	88441336	C	T	88441336	2	4	370	1	0	0	0	0	0	0	0	1	8697	871	31	1		1	LDB3	10	88441336	Silent	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08		88441336	47093411	26	7804											
DMBT1	1755	broad.mit.edu	37	chr10	124345796	124345796	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggacccattgtcctggatgaCgtgcgctgctcagggaatga	14	10	1	2	rs143892520	byFrequency	TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr10:124345796C>G	ENST00000338354.3	+	16	1786	c.1680C>G	c.(1678-1680)gaC>gaG	p.D560E	DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.D550E|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.D550E|DMBT1_ENST00000368909.3_Missense_Mutation_p.D560E			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	560	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)	p.D560D(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCCTGGATGACGTGCGCTGCT	0.592													c|||	30	0.00599042	0	0.0058	5008	,	,		18199	0		0.0169	False		,,,				2504	0.0092				Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			1	Substitution - coding silent(1)	p.D560D(1)	central_nervous_system(1)	breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(1678-1680)gaC>gaG		deleted in malignant brain tumors 1		C	,GLU/ASP,GLU/ASP	6,4040		0,6,2017	186	137	153		,1680,1650	-9.0	0.0	10	dbSNP_134	153	155,8111		17,121,3995	no	intron,missense,missense	DMBT1	NM_004406.2,NM_007329.2,NM_017579.2	,45,45	17,127,6012	GG,GC,CC		1.8752,0.1483,1.3077	,possibly-damaging,possibly-damaging	,560/2414,550/2404	124345796	161,12151	2023	4133	6156	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124345796C>G		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.1680C>G	10.37:g.124345796C>G	ENSP00000342210:p.Asp560Glu					DMBT1_ENST00000344338.3_Missense_Mutation_p.D550E|DMBT1_ENST00000368955.3_Missense_Mutation_p.D550E|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.D560E|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000330163.4_Intron	p.D560E			Q9UGM3	DMBT1_HUMAN			16	1786	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	560			SRCR 4.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.1680C>G		18	0.008241758241758242	0	0.0	2	0.0055248618784530384	0	0.0	16	0.021108179419525065	C	13.74	2.326283	0.41197	0.001483	0.018752	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000344338;ENST00000368909;ENST00000368955	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.5	-9.0	0.00747	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.13243	0.0321	L	0.33753	1.03	0.80722	D	1	B;B;B	0.33266	0.351;0.351;0.404	B;B;B	0.34489	0.115;0.115;0.184	T	0.29941	-0.9995	9	0.25751	T	0.34	.	10.9976	0.47585	0.1665:0.1817:0.0:0.6517	.	560;550;560	Q9UGM3-6;Q9UGM3-3;Q9UGM3	.;.;DMBT1_HUMAN	E	560;560;560;560;560;560;550;560;550	ENSP00000342210:D560E;ENSP00000343175:D550E;ENSP00000357905:D560E;ENSP00000357951:D550E	ENSP00000342210:D560E	D	+	3	2	DMBT1	124335786	0.000000	0.05858	0.000000	0.03702	0.425000	0.31504	-5.882000	0.00092	-2.782000	0.00360	-0.680000	0.03767	GAC		0.592	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		12	382	0	0	0	1	0	12	382					G	124345796	C	G	124345796	3	3	370	1	0	0	0	0	1	0	0	0	4577	535	19	4	1742	4	DMBT1	10	124345796	Missense_Mutation	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08	35904460	124345796	11188951	27	7805											
DAGLA	747	broad.mit.edu	37	chr11	61511242	61511242	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcaggcttccgcagcatcCggggctcccccagcctccac	9	21	1	0			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr11:61511242C>T	ENST00000257215.5	+	20	2526	c.2410C>T	c.(2410-2412)Cgg>Tgg	p.R804W	RP11-467L20.10_ENST00000536405.1_lincRNA	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	804					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CCGCAGCATCCGGGGCTCCCC	0.662																																						ENST00000257215.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(2410-2412)Cgg>Tgg		diacylglycerol lipase, alpha							63	72	69					11																	61511242		1987	4008	5995	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61511242C>T	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"neural stem cell-derived dendrite regulator"	614015	"chromosome 11 open reading frame 11"	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.2410C>T	11.37:g.61511242C>T	ENSP00000257215:p.Arg804Trp						p.R804W	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	20	2526	+			804					A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.2410C>T	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.091277	0.55968	.	.	ENSG00000134780	ENST00000257215	T	0.35789	1.29	3.11	2.15	0.27550	.	0.000000	0.85682	D	0.000000	T	0.41373	0.1156	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.40346	-0.9568	10	0.87932	D	0	-23.3504	11.8068	0.52161	0.184:0.816:0.0:0.0	.	804	Q9Y4D2	DGLA_HUMAN	W	804	ENSP00000257215:R804W	ENSP00000257215:R804W	R	+	1	2	DAGLA	61267818	1.000000	0.71417	0.978000	0.43139	0.665000	0.39181	2.712000	0.47186	0.829000	0.34733	0.491000	0.48974	CGG		0.662	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		14	286	0	0	0	1	0	14	286					T	61511242	C	T	61511242	3	4	370	1	0	0	0	0	1	0	0	0	4226	643	23	1	2484	1	DAGLA	11	61511242	Missense_Mutation	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08		61511242	73495274	28	7806											
P2RY2	5029	broad.mit.edu	37	chr11	72945651	72945651	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctggggccgggcccgctaCgctcgccgggtggccggggc	20	16	0	0	rs147817701	byFrequency	TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr11:72945651C>T	ENST00000311131.2	+	3	914	c.447C>T	c.(445-447)taC>taT	p.Y149Y	P2RY2_ENST00000393597.2_Silent_p.Y149Y|P2RY2_ENST00000393596.2_Silent_p.Y149Y	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	149					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GGGCCCGCTACGCTCGCCGGG	0.697													C|||	29	0.00579073	8e-04	0	5008	,	,		14981	0		0.002	False		,,,				2504	0.0266					ENST00000311131.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(445-447)taC>taT		purinergic receptor P2Y, G-protein coupled, 2	Suramin(DB04786)	C	,,	3,4397	6.2+/-15.9	0,3,2197	37	38	38		447,447,447	-9.3	0.8	11	dbSNP_134	38	12,8572	9.1+/-34.3	0,12,4280	no	coding-synonymous,coding-synonymous,coding-synonymous	P2RY2	NM_002564.2,NM_176071.1,NM_176072.1	,,	0,15,6477	TT,TC,CC		0.1398,0.0682,0.1155	,,	149/378,149/378,149/378	72945651	15,12969	2200	4292	6492	SO:0001819	synonymous_variant	5029				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:72945651C>T	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.447C>T	11.37:g.72945651C>T						P2RY2_ENST00000393596.2_Silent_p.Y149Y|P2RY2_ENST00000393597.2_Silent_p.Y149Y	p.Y149Y	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN			3	914	+			149					B2R9W3|Q96EM8	Silent	SNP	ENST00000311131.2	37	c.447C>T	CCDS8219.1																																																																																				0.697	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		9	168	0	0	0	1	0	9	168					T	72945651	C	T	72945651	2	4	370	1	0	0	0	0	0	0	0	1	11352	547	19	1		1	P2RY2	11	72945651	Silent	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08	11434409	72945651	62060865	29	7807											
PCK2	5106	broad.mit.edu	37	chr14	24568395	24568395	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaagtgctttgccctacgcAtcgcctctcggctggcccgg	12	15	1	1	rs146890792	byFrequency	TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr14:24568395A>G	ENST00000216780.4	+	5	1070	c.802A>G	c.(802-804)Atc>Gtc	p.I268V	PCK2_ENST00000559250.1_Missense_Mutation_p.I280V|PCK2_ENST00000558096.1_Missense_Mutation_p.I134V|NRL_ENST00000561028.1_Intron|PCK2_ENST00000545054.2_Missense_Mutation_p.I134V|PCK2_ENST00000561286.1_Missense_Mutation_p.I134V|PCK2_ENST00000396973.4_Missense_Mutation_p.I268V	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	268					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		TGCCCTACGCATCGCCTCTCG	0.662																																						ENST00000545054.2																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18						c.(400-402)Atc>Gtc		phosphoenolpyruvate carboxykinase 2 (mitochondrial)		A	VAL/ILE,VAL/ILE	0,4406		0,0,2203	49	44	46		802,802	5.8	1.0	14	dbSNP_134	46	7,8593	5.7+/-21.5	0,7,4293	yes	missense,missense	PCK2	NM_001018073.1,NM_004563.2	29,29	0,7,6496	GG,GA,AA		0.0814,0.0,0.0538	probably-damaging,probably-damaging	268/442,268/641	24568395	7,12999	2203	4300	6503	SO:0001583	missense	5106				gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr14:24568395A>G	AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.802A>G	14.37:g.24568395A>G	ENSP00000216780:p.Ile268Val					PCK2_ENST00000558096.1_Missense_Mutation_p.I134V|PCK2_ENST00000561286.1_Missense_Mutation_p.I134V|PCK2_ENST00000216780.4_Missense_Mutation_p.I268V|NRL_ENST00000561028.1_Intron|PCK2_ENST00000396973.4_Missense_Mutation_p.I268V|PCK2_ENST00000559250.1_Missense_Mutation_p.I280V	p.I134V			Q16822	PCKGM_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	5	1318	+			268					O43253|Q86U01|Q9BV62	Missense_Mutation	SNP	ENST00000216780.4	37	c.400A>G	CCDS9609.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.124183	0.77436	0.0	8.14E-4	ENSG00000100889	ENST00000216780;ENST00000396973;ENST00000545054	T;T;T	0.05649	3.41;3.41;3.41	5.79	5.79	0.91817	Phosphoenolpyruvate carboxykinase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.30386	0.0763	M	0.93808	3.46	0.80722	D	1	P;P;P;P	0.51449	0.591;0.897;0.945;0.897	P;P;P;P	0.57911	0.664;0.829;0.649;0.829	T	0.30238	-0.9985	10	0.87932	D	0	-9.3117	14.0845	0.64947	1.0:0.0:0.0:0.0	.	134;268;268;268	B4DW73;Q16822;Q16822-2;Q6IB91	.;PCKGM_HUMAN;.;.	V	268;268;134	ENSP00000216780:I268V;ENSP00000380171:I268V;ENSP00000441826:I134V	ENSP00000216780:I268V	I	+	1	0	PCK2	23638235	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.962000	0.93254	2.219000	0.72066	0.460000	0.39030	ATC		0.662	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	NM_001018073		5	91	0	0	0	1	0	5	91					G	24568395	A	G	24568395	3	3	370	1	0	0	0	0	1	0	0	0	11582	217	8	3	820	3	PCK2	14	24568395	Missense_Mutation	SNP	A	TCGA-ET-A39M-01A-11D-A19J-08		24568395	82781145	30	7808											
TMED10	10972	broad.mit.edu	37	chr14	75601711	75601712	+	Splice_Site	INS	-	-	A													cccgagtgtttgttgactctINSaaaaaaaaacaaaagcattg					rs200389497	byFrequency	TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr14:75601711_75601712insA	ENST00000303575.4	-	5	590		c.e5-2		TMED10_ENST00000557670.1_Splice_Site|RP11-950C14.7_ENST00000556236.1_RNA	NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)						beta-amyloid formation (GO:0034205)|cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPI-coated vesicle budding (GO:0035964)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|kidney development (GO:0001822)|protein oligomerization (GO:0051259)|regulated secretory pathway (GO:0045055)|response to acid chemical (GO:0001101)|response to alkaloid (GO:0043279)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle targeting, to, from or within Golgi (GO:0048199)	cis-Golgi network (GO:0005801)|COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network transport vesicle (GO:0030140)|zymogen granule membrane (GO:0042589)	syntaxin binding (GO:0019905)			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		TTGTTGACTCTAAAAAAAAACA	0.426																																						ENST00000303575.4																			0				endometrium(1)|large_intestine(5)|lung(3)	9						c.e5-2		transmembrane emp24-like trafficking protein 10 (yeast)																																				SO:0001630	splice_region_variant	10972				protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding	g.chr14:75601711_75601712insA	AL832012, X97442	CCDS9840.1	14q24.3	2008-08-11			ENSG00000170348	ENSG00000170348			16998	protein-coding gene	gene with protein product		605406				7596406, 8663407	Standard	NM_006827		Approved	TMP21, P24(DELTA)	uc001xrm.1	P49755		ENST00000303575.4:c.539-2->T	14.37:g.75601720_75601720dupA						RP11-950C14.7_ENST00000556236.1_RNA|TMED10_ENST00000557670.1_Splice_Site		NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0126)	5	590	-								B2R605|Q15602|Q16536|Q86TC2|Q86TS5	Splice_Site	INS	ENST00000303575.4	37		CCDS9840.1																																																																																				0.426	TMED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415034.1	NM_006827	Intron	8	182						8	182	---	---	---	---	A	75601712	-	A	75601711	8	5	370	1	0	1	1	0	0	0	1	0	16000	1536	53	0	126	0	TMED10	14	75601711	Splice_Site	INS	-	TCGA-ET-A39M-01A-11D-A19J-08	51033316	75601711	31747829	31	7809											
KREMEN2	79412	broad.mit.edu	37	chr16	3016732	3016732	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccccgccaccgactgtgaCcagatctgtttcggccaccc	9	19	1	2			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr16:3016732C>T	ENST00000303746.5	+	5	1153	c.576C>T	c.(574-576)gaC>gaT	p.D192D	KREMEN2_ENST00000571007.1_Intron|PAQR4_ENST00000572687.1_5'Flank|KREMEN2_ENST00000575769.1_Silent_p.D192D|PKMYT1_ENST00000571102.1_5'Flank|KREMEN2_ENST00000572045.1_Silent_p.D192D|PAQR4_ENST00000576565.1_5'Flank|KREMEN2_ENST00000319500.6_Silent_p.D192D|KREMEN2_ENST00000575885.1_Intron|PAQR4_ENST00000318782.8_5'Flank|PAQR4_ENST00000293978.8_5'Flank			Q8NCW0	KREM2_HUMAN	kringle containing transmembrane protein 2	192	WSC. {ECO:0000255|PROSITE- ProRule:PRU00558, ECO:0000305}.			Missing (in Ref. 2; BAC11365). {ECO:0000305}.	Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|large_intestine(1)	4						CCGACTGTGACCAGATCTGTT	0.706																																						ENST00000572045.1																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)	4						c.(574-576)gaC>gaT		kringle containing transmembrane protein 2							19	25	23					16																	3016732		2191	4294	6485	SO:0001819	synonymous_variant	79412				Wnt receptor signaling pathway	integral to membrane		g.chr16:3016732C>T	BC003533	CCDS10483.1, CCDS10484.1, CCDS58412.1, CCDS58413.1	16p13.11	2008-08-04			ENSG00000131650	ENSG00000131650			18797	protein-coding gene	gene with protein product		609899				12050670	Standard	NM_172229		Approved	MGC10791, KRM2	uc002csg.3	Q8NCW0	OTTHUMG00000128976	ENST00000303746.5:c.576C>T	16.37:g.3016732C>T						KREMEN2_ENST00000575885.1_Intron|KREMEN2_ENST00000319500.6_Silent_p.D192D|KREMEN2_ENST00000303746.5_Silent_p.D192D|KREMEN2_ENST00000571007.1_Intron|KREMEN2_ENST00000575769.1_Silent_p.D192D	p.D192D	NM_172229.2	NP_757384.1	Q8NCW0	KREM2_HUMAN			5	881	+			192	Missing (in Ref. 2; BAC11365).		WSC.		B4DXF6|I3L2S2|Q8N2J4|Q8NCW1|Q96GL8|Q9BTP9	Silent	SNP	ENST00000303746.5	37	c.576C>T	CCDS10483.1																																																																																				0.706	KREMEN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250964.2	NM_145347		5	60	0	0	0	1	0	5	60					T	3016732	C	T	3016732	2	4	370	1	0	0	0	0	0	0	0	1	8443	506	18	2		2	KREMEN2	16	3016732	Silent	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08		3016732	87338021	32	7810											
SEZ6L2	26470	broad.mit.edu	37	chr16	29897052	29897052	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgggggatagggggctgccCcctgagcgcaccatcagcct	15	14	1	1	rs150650092	byFrequency	TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr16:29897052C>T	ENST00000308713.5	-	8	1754	c.1227G>A	c.(1225-1227)ggG>ggA	p.G409G	SEZ6L2_ENST00000350527.3_Silent_p.G339G|SEZ6L2_ENST00000537485.1_Silent_p.G365G|SEZ6L2_ENST00000346932.5_Silent_p.G295G|SEZ6L2_ENST00000562159.1_5'Flank	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	409	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGGGGCTGCCCCCTGAGCGCA	0.582													c|||	4	0.000798722	8e-04	0	5008	,	,		17664	0		0.003	False		,,,				2504	0					ENST00000308713.5																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1225-1227)ggG>ggA		seizure related 6 homolog (mouse)-like 2			,,,	3,4391	6.2+/-15.9	0,3,2194	49	45	46		1017,885,1017,1227	0.0	1.0	16	dbSNP_134	46	23,8577	15.3+/-51.7	0,23,4277	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEZ6L2	NM_001114099.2,NM_001114100.2,NM_012410.3,NM_201575.3	,,,	0,26,6471	TT,TC,CC		0.2674,0.0683,0.2001	,,,	339/841,295/810,339/854,409/911	29897052	26,12968	2197	4300	6497	SO:0001819	synonymous_variant	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29897052C>T	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"type I transmembrane receptor (seizure related protein)"					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.1227G>A	16.37:g.29897052C>T						SEZ6L2_ENST00000537485.1_Silent_p.G365G|SEZ6L2_ENST00000350527.3_Silent_p.G339G|SEZ6L2_ENST00000346932.5_Silent_p.G295G	p.G409G	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN			8	1754	-			409			CUB 2.		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Silent	SNP	ENST00000308713.5	37	c.1227G>A	CCDS10659.1																																																																																				0.582	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		4	73	0	0	0	1	0	4	73					T	29897052	C	T	29897052	2	4	370	1	0	0	0	0	0	0	0	1	14144	610	22	2		2	SEZ6L2	16	29897052	Silent	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08	26880320	29897052	60457701	33	7811											
MYBBP1A	10514	broad.mit.edu	37	chr17	4453510	4453510	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacccgccagaaagtaggcgTgacagggaggccttggttgg	17	9	0	2			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr17:4453510T>G	ENST00000254718.4	-	9	1468	c.1162A>C	c.(1162-1164)Acg>Ccg	p.T388P	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.T388P			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	388	Interaction with MYB. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						AAAGTAGGCGTGACAGGGAGG	0.642																																						ENST00000254718.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						c.(1162-1164)Acg>Ccg		MYB binding protein (P160) 1a							100	107	105					17																	4453510		2203	4300	6503	SO:0001583	missense	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4453510T>G	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"p53-activated protein-2"	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.1162A>C	17.37:g.4453510T>G	ENSP00000254718:p.Thr388Pro					MYBBP1A_ENST00000381556.2_Missense_Mutation_p.T388P	p.T388P			Q9BQG0	MBB1A_HUMAN			9	1468	-			388			Interaction with MYB (By similarity).		Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	c.1162A>C	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	T	8.693	0.907787	0.17833	.	.	ENSG00000132382	ENST00000381556;ENST00000254718;ENST00000426435	T;T	0.43294	0.95;0.95	5.06	-5.32	0.02722	Armadillo-type fold (1);	0.924771	0.09232	N	0.830468	T	0.21186	0.0510	N	0.14661	0.345	0.09310	N	1	B;B	0.23540	0.087;0.071	B;B	0.31495	0.131;0.081	T	0.29058	-1.0024	10	0.44086	T	0.13	-3.9144	2.7199	0.05198	0.1221:0.2221:0.131:0.5248	.	388;388	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	P	388	ENSP00000370968:T388P;ENSP00000254718:T388P	ENSP00000254718:T388P	T	-	1	0	MYBBP1A	4400259	0.130000	0.22417	0.004000	0.12327	0.002000	0.02628	-0.281000	0.08456	-1.257000	0.02475	-0.132000	0.14878	ACG		0.642	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		10	271	0	0	0	1	0	10	271					G	4453510	T	G	4453510	3	3	370	1	0	0	0	0	1	0	0	0	10008	1696	59	5	2936	5	MYBBP1A	17	4453510	Missense_Mutation	SNP	T	TCGA-ET-A39M-01A-11D-A19J-08		4453510	76741700	34	7812											
GPS1	2873	broad.mit.edu	37	chr17	80012657	80012657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcaccagcgccaaacacGtcatcaacatgtgcctcaat	6	15	3	0	rs149095451		TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr17:80012657G>A	ENST00000306823.6	+	4	615	c.592G>A	c.(592-594)Gtc>Atc	p.V198I	GPS1_ENST00000355130.2_Missense_Mutation_p.V234I|GPS1_ENST00000578552.1_Missense_Mutation_p.V194I|GPS1_ENST00000392358.2_Missense_Mutation_p.V234I|GPS1_ENST00000320548.4_Missense_Mutation_p.V178I			Q13098	CSN1_HUMAN	G protein pathway suppressor 1	198					cell cycle (GO:0007049)|cullin deneddylation (GO:0010388)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CGCCAAACACGTCATCAACAT	0.662													.|||	1	0.000199681	0	0	5008	,	,		16114	0.001		0	False		,,,				2504	0					ENST00000392358.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13						c.(700-702)Gtc>Atc		G protein pathway suppressor 1		G	ILE/VAL,ILE/VAL	0,4404		0,0,2202	52	48	49		592,700	4.7	1.0	17	dbSNP_134	49	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	GPS1	NM_004127.4,NM_212492.1	29,29	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	198/492,234/528	80012657	2,13002	2202	4300	6502	SO:0001583	missense	2873				cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding	g.chr17:80012657G>A		CCDS11800.1, CCDS32774.1	17q25.3	2013-03-14				ENSG00000169727			4549	protein-coding gene	gene with protein product	"COP9 signalosome subunit 1"	601934				9535219	Standard	NM_212492		Approved	COPS1, CSN1	uc002kdl.1	Q13098		ENST00000306823.6:c.592G>A	17.37:g.80012657G>A	ENSP00000302873:p.Val198Ile					GPS1_ENST00000578552.1_Missense_Mutation_p.V194I|GPS1_ENST00000320548.4_Missense_Mutation_p.V178I|GPS1_ENST00000355130.2_Missense_Mutation_p.V234I|GPS1_ENST00000306823.6_Missense_Mutation_p.V198I	p.V234I	NM_212492.1	NP_997657.1	Q13098	CSN1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		4	1049	+	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		198					Q8NA10|Q9BWL1	Missense_Mutation	SNP	ENST00000306823.6	37	c.700G>A	CCDS32774.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029683	0.54790	0.0	2.33E-4	ENSG00000169727	ENST00000392358;ENST00000320548;ENST00000306823;ENST00000355130;ENST00000392357	T;T;T	0.75477	-0.77;-0.94;-0.77	4.65	4.65	0.58169	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.57301	0.2044	N	0.17631	0.505	0.80722	D	1	B;B;B;B;B;B	0.27229	0.024;0.007;0.172;0.019;0.023;0.005	B;B;B;B;B;B	0.23275	0.023;0.01;0.045;0.02;0.026;0.006	T	0.57075	-0.7873	10	0.05721	T	0.95	-53.6521	17.5075	0.87750	0.0:0.0:1.0:0.0	.	190;234;183;194;198;234	B4DND6;A8K070;Q13098-6;Q13098-5;Q13098;Q13098-7	.;.;.;.;CSN1_HUMAN;.	I	234;184;198;234;119	ENSP00000376167:V234I;ENSP00000302873:V198I;ENSP00000347251:V234I	ENSP00000302873:V198I	V	+	1	0	GPS1	77605946	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.098000	0.94202	2.150000	0.67090	0.491000	0.48974	GTC		0.662	GPS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442176.1	NM_212492		4	78	0	0	0	1	0	4	78					A	80012657	G	A	80012657	3	1	370	1	0	0	0	0	1	0	0	0	6732	1145	40	1	763	1	GPS1	17	80012657	Missense_Mutation	SNP	G	TCGA-ET-A39M-01A-11D-A19J-08	75559147	80012657	1182553	35	7813											
ZNF526	116115	broad.mit.edu	37	chr19	42729121	42729121	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgcctccaccttctccccCatccgaagtcaagatggagc	7	17	2	1	rs150807158	byFrequency	TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr19:42729121C>T	ENST00000301215.3	+	3	791	c.566C>T	c.(565-567)cCa>cTa	p.P189L		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	189					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				CCTTCTCCCCCATCCGAAGTC	0.597													C|||	13	0.00259585	8e-04	0	5008	,	,		19799	0		0.006	False		,,,				2504	0.0061					ENST00000301215.3																			0				autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22						c.(565-567)cCa>cTa		zinc finger protein 526		C	LEU/PRO	9,4397	15.5+/-35.6	0,9,2194	135	127	130		566	4.4	0.1	19	dbSNP_134	130	124,8476	64.9+/-127.2	2,120,4178	yes	missense	ZNF526	NM_133444.1	98	2,129,6372	TT,TC,CC		1.4419,0.2043,1.0226	possibly-damaging	189/671	42729121	133,12873	2203	4300	6503	SO:0001583	missense	116115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42729121C>T	AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"Zinc fingers, C2H2-type"	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.566C>T	19.37:g.42729121C>T	ENSP00000301215:p.Pro189Leu						p.P189L	NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN			3	791	+		Prostate(69;0.0704)	189					B3KV29|Q69YI2|Q96E24	Missense_Mutation	SNP	ENST00000301215.3	37	c.566C>T	CCDS12598.1	5	0.0022893772893772895	0	0.0	0	0.0	0	0.0	5	0.006596306068601583	C	6.077	0.382572	0.11524	0.002043	0.014419	ENSG00000167625	ENST00000437878;ENST00000301215	T	0.08634	3.07	4.4	4.4	0.53042	.	0.555420	0.16362	N	0.217738	T	0.06096	0.0158	L	0.44542	1.39	0.33667	D	0.61049	B	0.12013	0.005	B	0.10450	0.005	T	0.02683	-1.1124	10	0.72032	D	0.01	-4.7579	9.9765	0.41786	0.0:0.9038:0.0:0.0962	.	189	Q8TF50	ZN526_HUMAN	L	45;189	ENSP00000301215:P189L	ENSP00000301215:P189L	P	+	2	0	ZNF526	47420961	0.022000	0.18835	0.057000	0.19452	0.395000	0.30598	2.169000	0.42434	2.449000	0.82847	0.467000	0.42956	CCA		0.597	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463681.2	XM_057401		14	338	0	0	0	1	0	14	338					T	42729121	C	T	42729121	3	4	370	1	0	0	0	0	1	0	0	0	17964	594	21	2	568	2	ZNF526	19	42729121	Missense_Mutation	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08		42729121	16399862	36	7814											
IL17RA	23765	broad.mit.edu	37	chr22	17583105	17583105	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagcttcaccctgtggaaCgaatctacccattaccagat	8	12	2	2	rs371674761		TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr22:17583105C>T	ENST00000319363.6	+	7	808	c.675C>T	c.(673-675)aaC>aaT	p.N225N		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	225					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CCCTGTGGAACGAATCTACCC	0.572																																						ENST00000319363.6																			0				endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30						c.(673-675)aaC>aaT		interleukin 17 receptor A		C		1,4405	2.1+/-5.4	0,1,2202	183	160	168		675	-2.0	0.8	22		168	0,8600		0,0,4300	no	coding-synonymous	IL17RA	NM_014339.5		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		225/867	17583105	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23765				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	g.chr22:17583105C>T	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"Interleukins and interleukin receptors", "CD molecules"	5985	protein-coding gene	gene with protein product		605461	"interleukin 17 receptor"	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.675C>T	22.37:g.17583105C>T							p.N225N	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN		Colorectal(9;0.241)	7	808	+		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	225					O43844|Q20WK1	Silent	SNP	ENST00000319363.6	37	c.675C>T	CCDS13739.1																																																																																				0.572	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339		7	159	0	0	0	1	0	7	159					T	17583105	C	T	17583105	2	4	370	1	0	0	0	0	0	0	0	1	7639	535	19	1		1	IL17RA	22	17583105	Silent	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08		17583105	33721461	37	7815											
MMP11	4320	broad.mit.edu	37	chr22	24123183	24123183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcccagatgactgcaggGgcgttcaacacctatatggc	11	12	2	2			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr22:24123183G>A	ENST00000215743.3	+	5	806	c.754G>A	c.(754-756)Ggc>Agc	p.G252S	MMP11_ENST00000477567.1_3'UTR	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	252					basement membrane organization (GO:0071711)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|negative regulation of fat cell differentiation (GO:0045599)|proteolysis (GO:0006508)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)			Marimastat(DB00786)	TGACTGCAGGGGCGTTCAACA	0.622																																						ENST00000215743.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27						c.(754-756)Ggc>Agc		matrix metallopeptidase 11 (stromelysin 3)							91	76	81					22																	24123183		2203	4300	6503	SO:0001583	missense	4320				collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr22:24123183G>A		CCDS13816.1	22q11.23	2008-06-11	2005-08-08		ENSG00000099953	ENSG00000099953			7157	protein-coding gene	gene with protein product		185261	"matrix metalloproteinase 11 (stromelysin 3)"	STMY3		1639418, 7657606, 12006591	Standard	NM_005940		Approved		uc002zxx.3	P24347	OTTHUMG00000150742	ENST00000215743.3:c.754G>A	22.37:g.24123183G>A	ENSP00000215743:p.Gly252Ser					MMP11_ENST00000477567.1_3'UTR	p.G252S	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN			5	806	+		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)	252					Q5FX24|Q6PEZ6|Q9UC26	Missense_Mutation	SNP	ENST00000215743.3	37	c.754G>A	CCDS13816.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887655	0.91814	.	.	ENSG00000099953	ENST00000215743	T	0.31510	1.49	5.18	4.16	0.48862	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.63558	0.2521	M	0.92784	3.345	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74003	-0.3804	10	0.87932	D	0	.	13.5053	0.61481	0.0751:0.0:0.9249:0.0	.	252	P24347	MMP11_HUMAN	S	252	ENSP00000215743:G252S	ENSP00000215743:G252S	G	+	1	0	MMP11	22453183	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.605000	0.98321	1.574000	0.49760	0.650000	0.86243	GGC		0.622	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319891.2	NM_005940		5	98	0	0	0	1	0	5	98					A	24123183	G	A	24123183	3	1	370	1	0	0	0	0	1	0	0	0	9650	1232	43	2	772	2	MMP11	22	24123183	Missense_Mutation	SNP	G	TCGA-ET-A39M-01A-11D-A19J-08	6540078	24123183	27181383	38	7816											
PANX2	56666	broad.mit.edu	37	chr22	50617591	50617591	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccgggaggaggaggacgGgggcccccgcctgccgcagg	21	14	0	0			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr22:50617591G>A	ENST00000395842.2	+	3	1919	c.1919G>A	c.(1918-1920)gGg>gAg	p.G640E	PANX2_ENST00000159647.5_Intron	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	640					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		GAGGAGGACGGGGGCCCCCGC	0.682																																						ENST00000395842.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(1918-1920)gGg>gAg		pannexin 2							32	30	31					22																	50617591		2200	4297	6497	SO:0001583	missense	56666				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr22:50617591G>A		CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"Ion channels / Pannexins"	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.1919G>A	22.37:g.50617591G>A	ENSP00000379183:p.Gly640Glu					PANX2_ENST00000159647.5_Intron	p.G640E	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	3	1919	+		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)	640					B7Z684|Q96RD5|Q9UGX8	Missense_Mutation	SNP	ENST00000395842.2	37	c.1919G>A	CCDS14085.2	.	.	.	.	.	.	.	.	.	.	G	11.08	1.532532	0.27387	.	.	ENSG00000073150	ENST00000395842;ENST00000401643	T	0.21361	2.01	3.72	2.69	0.31865	.	0.779066	0.10383	U	0.681308	T	0.09686	0.0238	N	0.12182	0.205	0.25809	N	0.984413	B	0.06786	0.001	B	0.06405	0.002	T	0.27571	-1.0070	9	.	.	.	-8.7779	3.6114	0.08062	0.3925:0.0:0.6075:0.0	.	640	Q96RD6	PANX2_HUMAN	E	640;317	ENSP00000379183:G640E	.	G	+	2	0	PANX2	48959718	1.000000	0.71417	0.803000	0.32268	0.307000	0.27823	1.673000	0.37534	2.081000	0.62600	0.313000	0.20887	GGG		0.682	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	NM_052839		3	35	0	0	0	1	0	3	35					A	50617591	G	A	50617591	3	1	370	1	0	0	0	0	1	0	0	0	11421	1232	43	2	1929	2	PANX2	22	50617591	Missense_Mutation	SNP	G	TCGA-ET-A39M-01A-11D-A19J-08	26494408	50617591	686975	39	7817											
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-													ctggttgggtttgcacttcaTcctcgaggcagcctcctcga					rs78182391		TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			10	15						10	15	---	---	---	---	-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	370	1	0	1	0	1	0	0	0	0	10727	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-ET-A39M-01A-11D-A19J-08		51239296	104031264	40	7818											
PNMA5	114824	broad.mit.edu	37	chrX	152159280	152159280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctaagagatgtttcagaCgaatcatgtctgtgctgcgc	12	8	3	2			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chrX:152159280C>T	ENST00000439251.1	-	2	1301	c.863G>A	c.(862-864)cGt>cAt	p.R288H	PNMA5_ENST00000535214.1_Missense_Mutation_p.R288H|PNMA5_ENST00000452693.1_Missense_Mutation_p.R288H|PNMA5_ENST00000361887.5_Missense_Mutation_p.R288H	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	288					positive regulation of apoptotic process (GO:0043065)					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTTTCAGACGAATCATGTC	0.562																																						ENST00000439251.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(862-864)cGt>cAt		paraneoplastic Ma antigen family member 5							43	44	43					X																	152159280		2203	4298	6501	SO:0001583	missense	114824				apoptosis			g.chrX:152159280C>T	AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"Paraneoplastic Ma antigens"	18743	protein-coding gene	gene with protein product	"paraneoplastic antigen family 5"	300916	"paraneoplastic antigen like 5"			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.863G>A	X.37:g.152159280C>T	ENSP00000388850:p.Arg288His					PNMA5_ENST00000361887.5_Missense_Mutation_p.R288H|PNMA5_ENST00000535214.1_Missense_Mutation_p.R288H|PNMA5_ENST00000452693.1_Missense_Mutation_p.R288H	p.R288H	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN			2	1301	-	Acute lymphoblastic leukemia(192;6.56e-05)		288					B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	ENST00000439251.1	37	c.863G>A	CCDS14718.1	.	.	.	.	.	.	.	.	.	.	c	16.12	3.034229	0.54896	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.14893	2.47;2.47;2.47;2.47	2.97	2.1	0.27182	.	.	.	.	.	T	0.26122	0.0637	M	0.84683	2.71	0.09310	N	1	P	0.48503	0.911	P	0.45343	0.477	T	0.18840	-1.0324	9	0.72032	D	0.01	-25.6602	5.2804	0.15673	0.0:0.8331:0.0:0.1669	.	288	Q96PV4	PNMA5_HUMAN	H	288	ENSP00000354834:R288H;ENSP00000445775:R288H;ENSP00000388850:R288H;ENSP00000392342:R288H	ENSP00000354834:R288H	R	-	2	0	PNMA5	151909936	0.906000	0.30813	0.023000	0.16930	0.160000	0.22226	0.939000	0.28978	0.669000	0.31146	0.287000	0.19450	CGT		0.562	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926		44	50	0	0	0	1	0	44	50					T	152159280	C	T	152159280	3	4	370	1	0	0	0	0	1	0	0	0	12156	536	19	1	487	1	PNMA5	23	152159280	Missense_Mutation	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08	100919984	152159280	3111280	41	7819											
ULK4	54986	broad.mit.edu	37	chr3	41723024	41723024	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagtaagacatctcgaatgaGagccagaagattgctgtcag	11	7	2	4			TCGA-ET-A39N-01A-11D-A19J-08	TCGA-ET-A39N-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5904b857-04c7-404e-83b5-0d000ae43a35	5ab942e6-6a35-4b33-a4fa-8061207d8ec4	g.chr3:41723024G>A	ENST00000301831.4	-	29	3415	c.2953C>T	c.(2953-2955)Ctc>Ttc	p.L985F		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	985					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TCTCGAATGAGAGCCAGAAGA	0.473																																						ENST00000301831.4																			0				breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22						c.(2953-2955)Ctc>Ttc		unc-51 like kinase 4							125	121	123					3																	41723024		1969	4147	6116	SO:0001583	missense	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41723024G>A	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"unc-51-like kinase 4 (C. elegans)"			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.2953C>T	3.37:g.41723024G>A	ENSP00000301831:p.Leu985Phe						p.L985F	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	29	3415	-			985					A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	c.2953C>T	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	g	19.41	3.822539	0.71028	.	.	ENSG00000168038	ENST00000301831	T	0.65916	-0.18	5.75	5.75	0.90469	Armadillo-type fold (1);	0.103984	0.39341	U	0.001390	T	0.70928	0.3280	L	0.50333	1.59	0.80722	D	1	D	0.65815	0.995	P	0.61533	0.89	T	0.71354	-0.4618	10	0.54805	T	0.06	.	13.1821	0.59660	0.0727:0.0:0.9273:0.0	.	985	Q96C45	ULK4_HUMAN	F	985	ENSP00000301831:L985F	ENSP00000301831:L985F	L	-	1	0	ULK4	41698028	1.000000	0.71417	0.946000	0.38457	0.857000	0.48899	5.133000	0.64764	2.716000	0.92895	0.655000	0.94253	CTC		0.473	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		3	45	0	0	0	1	0	3	45					A	41723024	G	A	41723024	3	1	371	1	0	0	0	0	1	0	0	0	16975	942	33	2	910	2	ULK4	3	41723024	Missense_Mutation	SNP	G	TCGA-ET-A39N-01A-11D-A19J-08		41723024	156299406	1	7820											
ARAP2	116984	broad.mit.edu	37	chr4	36069767	36069767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aactccgatgttttcggggtCgatttcgaagtttatcgtcc	10	9	0	0	rs149183264		TCGA-ET-A39N-01A-11D-A19J-08	TCGA-ET-A39N-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5904b857-04c7-404e-83b5-0d000ae43a35	5ab942e6-6a35-4b33-a4fa-8061207d8ec4	g.chr4:36069767C>T	ENST00000303965.4	-	33	5366	c.4877G>A	c.(4876-4878)cGa>cAa	p.R1626Q		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1626					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTTTCGGGGTCGATTTCGAAG	0.502													C|||	1	0.000199681	0	0	5008	,	,		18475	0.001		0	False		,,,				2504	0					ENST00000303965.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						c.(4876-4878)cGa>cAa		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2		C	GLN/ARG	0,4406		0,0,2203	125	121	123		4877	6.0	0.7	4	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ARAP2	NM_015230.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1626/1705	36069767	1,13005	2203	4300	6503	SO:0001583	missense	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36069767C>T	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16924	protein-coding gene	gene with protein product		606645	"centaurin, delta 1"	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.4877G>A	4.37:g.36069767C>T	ENSP00000302895:p.Arg1626Gln						p.R1626Q	NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN			33	5366	-			1626					Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	c.4877G>A	CCDS3441.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	21.7	4.182936	0.78677	0.0	1.16E-4	ENSG00000047365	ENST00000303965	T	0.10192	2.9	5.98	5.98	0.97165	.	0.075779	0.51477	D	0.000092	T	0.12987	0.0315	L	0.32530	0.975	0.34803	D	0.736885	D	0.63046	0.992	P	0.45794	0.493	T	0.03249	-1.1056	10	0.62326	D	0.03	.	15.9435	0.79776	0.0:1.0:0.0:0.0	.	1626	Q8WZ64	ARAP2_HUMAN	Q	1626	ENSP00000302895:R1626Q	ENSP00000302895:R1626Q	R	-	2	0	ARAP2	35746162	0.986000	0.35501	0.674000	0.29902	0.456000	0.32438	2.834000	0.48167	2.838000	0.97847	0.655000	0.94253	CGA		0.502	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		5	100	0	0	0	1	0	5	100					T	36069767	C	T	36069767	3	4	371	1	0	0	0	0	1	0	0	0	839	884	31	1	241	1	ARAP2	4	36069767	Missense_Mutation	SNP	C	TCGA-ET-A39N-01A-11D-A19J-08		36069767	155084509	2	7821											
SYNPO2	171024	broad.mit.edu	37	chr4	119944588	119944588	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttttactccactcagattCgaaatcagagcaaagcctct	5	11	3	2			TCGA-ET-A39N-01A-11D-A19J-08	TCGA-ET-A39N-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5904b857-04c7-404e-83b5-0d000ae43a35	5ab942e6-6a35-4b33-a4fa-8061207d8ec4	g.chr4:119944588C>T	ENST00000429713.2	+	2	291	c.109C>T	c.(109-111)Cga>Tga	p.R37*	SYNPO2_ENST00000307142.4_Nonsense_Mutation_p.R37*|SYNPO2_ENST00000434046.2_Nonsense_Mutation_p.R37*|SYNPO2_ENST00000448416.2_Nonsense_Mutation_p.R37*	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	37	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CACTCAGATTCGAAATCAGAG	0.428																																						ENST00000307142.4																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(109-111)Cga>Tga		synaptopodin 2							66	57	60					4																	119944588		2203	4300	6503	SO:0001587	stop_gained	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119944588C>T	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.109C>T	4.37:g.119944588C>T	ENSP00000395143:p.Arg37*					SYNPO2_ENST00000429713.2_Nonsense_Mutation_p.R37*|SYNPO2_ENST00000448416.2_Nonsense_Mutation_p.R37*|SYNPO2_ENST00000434046.2_Nonsense_Mutation_p.R37*	p.R37*	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN			2	305	+			37			PDZ.		B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Nonsense_Mutation	SNP	ENST00000429713.2	37	c.109C>T	CCDS47129.1	.	.	.	.	.	.	.	.	.	.	C	37	6.399451	0.97537	.	.	ENSG00000172403	ENST00000307142;ENST00000448416;ENST00000429713;ENST00000434046	.	.	.	5.66	4.81	0.61882	.	0.000000	0.53938	D	0.000044	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.6151	14.345	0.66654	0.1484:0.8516:0.0:0.0	.	.	.	.	X	37	.	ENSP00000306015:R37X	R	+	1	2	SYNPO2	120164036	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.696000	0.47052	1.365000	0.46057	0.650000	0.86243	CGA		0.428	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			10	15	0	0	0	1	0	10	15					T	119944588	C	T	119944588	4	4	371	1	0	0	0	0	0	1	0	0	15454	876	31	1	115	1	SYNPO2	4	119944588	Nonsense_Mutation	SNP	C	TCGA-ET-A39N-01A-11D-A19J-08	83874821	119944588	71209688	3	7822											
MAP3K1	4214	broad.mit.edu	37	chr5	56180602	56180602	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaacatcattaggatgttgGgagccacgtgtgagaagagc	13	7	1	2			TCGA-ET-A39N-01A-11D-A19J-08	TCGA-ET-A39N-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5904b857-04c7-404e-83b5-0d000ae43a35	5ab942e6-6a35-4b33-a4fa-8061207d8ec4	g.chr5:56180602G>T	ENST00000399503.3	+	16	3931	c.3931G>T	c.(3931-3933)Gga>Tga	p.G1311*		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1311	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TAGGATGTTGGGAGCCACGTG	0.363																																						ENST00000399503.3																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(3931-3933)Gga>Tga		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase							108	100	103					5																	56180602		1913	4136	6049	SO:0001587	stop_gained	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56180602G>T	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.3931G>T	5.37:g.56180602G>T	ENSP00000382423:p.Gly1311*						p.G1311*	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	16	3931	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	1311			Protein kinase.			Nonsense_Mutation	SNP	ENST00000399503.3	37	c.3931G>T	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	G	42	9.532869	0.99198	.	.	ENSG00000095015	ENST00000399503	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7403	0.96228	0.0:0.0:1.0:0.0	.	.	.	.	X	1311	.	ENSP00000382423:G1311X	G	+	1	0	MAP3K1	56216359	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.549000	0.90672	2.652000	0.90054	0.655000	0.94253	GGA		0.363	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		3	49	1	0	0.00909568	1	0.00979535	3	49					T	56180602	G	T	56180602	4	4	371	1	0	0	0	0	0	1	0	0	9243	1233	43	4	3993	4	MAP3K1	5	56180602	Nonsense_Mutation	SNP	G	TCGA-ET-A39N-01A-11D-A19J-08		56180602	124734658	4	7823											
PSAT1	29968	broad.mit.edu	37	chr9	80919787	80919787	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacaggagcttggtcagctAaggccgcagaagaagccaag	14	9	1	3			TCGA-ET-A39N-01A-11D-A19J-08	TCGA-ET-A39N-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5904b857-04c7-404e-83b5-0d000ae43a35	5ab942e6-6a35-4b33-a4fa-8061207d8ec4	g.chr9:80919787A>C	ENST00000376588.3	+	4	396	c.328A>C	c.(328-330)Aag>Cag	p.K110Q	PSAT1_ENST00000347159.2_Missense_Mutation_p.K110Q	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	110					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-serine biosynthetic process (GO:0006564)|pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	O-phospho-L-serine:2-oxoglutarate aminotransferase activity (GO:0004648)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						TTGGTCAGCTAAGGCCGCAGA	0.507																																					Colon(34;187 791 10662 18313 37609)	ENST00000376588.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						c.(328-330)Aag>Cag		phosphoserine aminotransferase 1	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)						112	103	106					9																	80919787		2203	4300	6503	SO:0001583	missense	29968				L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr9:80919787A>C	BC004863	CCDS6659.1, CCDS6660.1	9q21.2	2008-08-11			ENSG00000135069	ENSG00000135069			19129	protein-coding gene	gene with protein product		610936				12633500, 3651428	Standard	NM_058179		Approved	PSA	uc004ala.3	Q9Y617	OTTHUMG00000020066	ENST00000376588.3:c.328A>C	9.37:g.80919787A>C	ENSP00000365773:p.Lys110Gln					PSAT1_ENST00000347159.2_Missense_Mutation_p.K110Q	p.K110Q	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN			4	396	+			110					Q5T7G5|Q5T7G6|Q96AW2|Q9BQ12	Missense_Mutation	SNP	ENST00000376588.3	37	c.328A>C	CCDS6660.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.019948	0.75275	.	.	ENSG00000135069	ENST00000347159;ENST00000376588	T;T	0.66280	-0.2;-0.2	5.65	5.65	0.86999	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.046935	0.85682	D	0.000000	T	0.80691	0.4671	M	0.85945	2.785	0.58432	D	0.999999	D;P	0.69078	0.997;0.86	D;B	0.67382	0.951;0.266	D	0.84230	0.0466	10	0.87932	D	0	-25.9967	15.8828	0.79216	1.0:0.0:0.0:0.0	.	110;110	Q9Y617-2;Q9Y617	.;SERC_HUMAN	Q	110	ENSP00000317606:K110Q;ENSP00000365773:K110Q	ENSP00000317606:K110Q	K	+	1	0	PSAT1	80109607	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	8.923000	0.92808	2.152000	0.67230	0.533000	0.62120	AAG		0.507	PSAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052777.1	NM_021154		4	50	0	0	0	1	0	4	50					C	80919787	A	C	80919787	3	2	371	1	0	0	0	0	1	0	0	0	12644	363	13	5	342	5	PSAT1	9	80919787	Missense_Mutation	SNP	A	TCGA-ET-A39N-01A-11D-A19J-08		80919787	60293644	5	7824											
C10orf79	80217	broad.mit.edu	37	chr10	105945732	105945732	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttttaagaaagcagcttacCaaagtataaacgtctcggat	7	7	1	1			TCGA-ET-A39N-01A-11D-A19J-08	TCGA-ET-A39N-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5904b857-04c7-404e-83b5-0d000ae43a35	5ab942e6-6a35-4b33-a4fa-8061207d8ec4	g.chr10:105945732C>A	ENST00000278064.2	-	15	2128	c.1803G>T	c.(1801-1803)ttG>ttT	p.L601F	WDR96_ENST00000428666.1_Splice_Site_p.L671F|WDR96_ENST00000357060.3_Splice_Site_p.L670F																NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGCAGCTTACCAAAGTATAAA	0.318																																						ENST00000357060.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.e15+1		WD repeat domain 96							84	86	85					10																	105945732		2203	4300	6503	SO:0001630	splice_region_variant	80217							g.chr10:105945732C>A																												ENST00000278064.2:c.1803+1G>T	10.37:g.105945732C>A						WDR96_ENST00000278064.2_Splice_Site_p.L601_splice|WDR96_ENST00000428666.1_Splice_Site_p.L671_splice	p.L670_splice	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN			15	2125	-			670						Splice_Site	SNP	ENST00000278064.2	37	c.2010_splice		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.50|16.50	3.140343|3.140343	0.56936|0.56936	.|.	.|.	ENSG00000197748|ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064|ENST00000434629	T;T;T|.	0.29917|.	1.55;1.55;1.55|.	5.82|5.82	4.92|4.92	0.64577|0.64577	WD40 repeat-like-containing domain (1);|.	0.070286|.	0.53938|.	D|.	0.000056|.	T|T	0.52092|0.52092	0.1713|0.1713	L|L	0.59436|0.59436	1.845|1.845	0.28576|0.28576	N|N	0.91039|0.91039	D;D|.	0.63046|.	0.992;0.985|.	P;P|.	0.60068|.	0.868;0.824|.	T|T	0.49862|0.49862	-0.8894|-0.8894	9|5	.|.	.|.	.|.	.|.	10.6136|10.6136	0.45436|0.45436	0.0:0.9125:0.0:0.0875|0.0:0.9125:0.0:0.0875	.|.	671;670|.	B4DHB6;Q8NDM7|.	.;WDR96_HUMAN|.	F|L	670;671;601|31	ENSP00000349568:L670F;ENSP00000400289:L671F;ENSP00000278064:L601F|.	.|.	L|W	-|-	3|2	2|0	WDR96|WDR96	105935722|105935722	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.488000|0.488000	0.33401|0.33401	1.885000|1.885000	0.39678|0.39678	1.471000|1.471000	0.48121|0.48121	0.561000|0.561000	0.74099|0.74099	TTG|TGG		0.318	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1		Missense_Mutation	3	44	1	0	1	1	1	3	44					A	105945732	C	A	105945732	5	1	371	1	0	0	0	0	0	0	1	0	1618	608	21	4	3083	4	C10orf79	10	105945732	Splice_Site	SNP	C	TCGA-ET-A39N-01A-11D-A19J-08		105945732	29589015	6	7825											
UBQLN3	50613	broad.mit.edu	37	chr11	5530553	5530553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggccatctcgcactccaCactgtgccagtgagtcagga	11	13	2	2			TCGA-ET-A39N-01A-11D-A19J-08	TCGA-ET-A39N-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5904b857-04c7-404e-83b5-0d000ae43a35	5ab942e6-6a35-4b33-a4fa-8061207d8ec4	g.chr11:5530553C>T	ENST00000311659.4	-	2	383	c.236G>A	c.(235-237)tGt>tAt	p.C79Y	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	79	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.									NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCGCACTCCACACTGTGCCAG	0.562																																					Ovarian(72;684 1260 12332 41642 52180)	ENST00000311659.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(235-237)tGt>tAt		ubiquilin 3							118	113	114					11																	5530553		2201	4297	6498	SO:0001583	missense	50613							g.chr11:5530553C>T	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"Ubiquilin family"	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.236G>A	11.37:g.5530553C>T	ENSP00000347997:p.Cys79Tyr					HBG2_ENST00000380259.2_Intron	p.C79Y	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	383	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	79			Ubiquitin-like.		Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	c.236G>A	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.947576	0.53186	.	.	ENSG00000175520	ENST00000311659;ENST00000445998	T;T	0.64618	-0.11;-0.11	5.24	5.24	0.73138	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.49916	D	0.000139	T	0.47303	0.1438	N	0.01431	-0.87	0.43039	D	0.994627	B	0.29085	0.232	P	0.48795	0.59	T	0.53989	-0.8360	10	0.25106	T	0.35	-24.9506	10.1835	0.42984	0.0:0.9088:0.0:0.0912	.	79	Q9H347	UBQL3_HUMAN	Y	79	ENSP00000347997:C79Y;ENSP00000412561:C79Y	ENSP00000347997:C79Y	C	-	2	0	UBQLN3	5487129	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.843000	0.55865	2.629000	0.89072	0.484000	0.47621	TGT		0.562	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		50	25	0	0	0	1	0	50	25					T	5530553	C	T	5530553	3	4	371	1	0	0	0	0	1	0	0	0	16895	478	17	2	1735	2	UBQLN3	11	5530553	Missense_Mutation	SNP	C	TCGA-ET-A39N-01A-11D-A19J-08		5530553	129475963	7	7826											
OR5D18	219438	broad.mit.edu	37	chr11	55587399	55587399	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	accatttcatttttaggatgCgtagtacaattctttttctt	5	7	3	0	rs147156620		TCGA-ET-A39N-01A-11D-A19J-08	TCGA-ET-A39N-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5904b857-04c7-404e-83b5-0d000ae43a35	5ab942e6-6a35-4b33-a4fa-8061207d8ec4	g.chr11:55587399C>G	ENST00000333976.4	+	1	314	c.294C>G	c.(292-294)tgC>tgG	p.C98W		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TTTTAGGATGCGTAGTACAAT	0.433																																						ENST00000333976.4																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(292-294)tgC>tgG		olfactory receptor, family 5, subfamily D, member 18							203	203	203					11																	55587399		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587399C>G	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"GPCR / Class A : Olfactory receptors"	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.294C>G	11.37:g.55587399C>G	ENSP00000335025:p.Cys98Trp						p.C98W	NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN			1	314	+		all_epithelial(135;0.208)	98					Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.294C>G	CCDS31510.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	8.592	0.884887	0.17540	.	.	ENSG00000186119	ENST00000333976	T	0.00551	6.65	4.94	-5.17	0.02849	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	D	0.000680	T	0.03263	0.0095	H	0.98701	4.305	0.37293	D	0.908355	D	0.89917	1.0	D	0.97110	1.0	T	0.10706	-1.0618	10	0.87932	D	0	-31.9624	9.597	0.39580	0.0:0.5212:0.1199:0.3589	.	98	Q8NGL1	OR5DI_HUMAN	W	98	ENSP00000335025:C98W	ENSP00000335025:C98W	C	+	3	2	OR5D18	55343975	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.983000	0.03759	-0.871000	0.04042	-1.111000	0.02071	TGC		0.433	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		39	156	0	0	0	1	0	39	156					G	55587399	C	G	55587399	3	3	371	1	0	0	0	0	1	0	0	0	11157	776	27	4	296	4	OR5D18	11	55587399	Missense_Mutation	SNP	C	TCGA-ET-A39N-01A-11D-A19J-08	50056846	55587399	79419117	8	7827											
LETMD1	25875	broad.mit.edu	37	chr12	51442144	51442144	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctctcgctgtgaagatggCgctctccagggtgtgctggg	15	10	2	2			TCGA-ET-A39N-01A-11D-A19J-08	TCGA-ET-A39N-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5904b857-04c7-404e-83b5-0d000ae43a35	5ab942e6-6a35-4b33-a4fa-8061207d8ec4	g.chr12:51442144C>T	ENST00000262055.4	+	1	44	c.5C>T	c.(4-6)gCg>gTg	p.A2V	LETMD1_ENST00000418425.2_Missense_Mutation_p.A2V|LETMD1_ENST00000550929.1_5'UTR|LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000552739.1_Missense_Mutation_p.A2V|LETMD1_ENST00000547008.1_Missense_Mutation_p.A2V|LETMD1_ENST00000380123.2_Missense_Mutation_p.A2V	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	2	Required and sufficient for mitochondrial import.					integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						GTGAAGATGGCGCTCTCCAGG	0.592											OREG0021818	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000418425.2																			0				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						c.(4-6)gCg>gTg		LETM1 domain containing 1							90	99	96					12																	51442144		2203	4300	6503	SO:0001583	missense	25875					integral to membrane|mitochondrial outer membrane	protein binding	g.chr12:51442144C>T	AF195651	CCDS8806.1, CCDS58231.1, CCDS73469.1	12q13.13	2006-04-12				ENSG00000050426			24241	protein-coding gene	gene with protein product	"cervical cancer 1 protooncogene"					12879013, 12061725	Standard	NM_015416		Approved	HCCR1	uc009zlw.3	Q6P1Q0	OTTHUMG00000169538	ENST00000262055.4:c.5C>T	12.37:g.51442144C>T	ENSP00000262055:p.Ala2Val		OREG0021818	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	977	LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000380123.2_Missense_Mutation_p.A2V|LETMD1_ENST00000550929.1_5'UTR|LETMD1_ENST00000262055.4_Missense_Mutation_p.A2V|LETMD1_ENST00000547008.1_Missense_Mutation_p.A2V|LETMD1_ENST00000552739.1_Missense_Mutation_p.A2V	p.A2V	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN			1	24	+			2			Required and sufficient for mitochondrial import.		A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Missense_Mutation	SNP	ENST00000262055.4	37	c.5C>T	CCDS8806.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045931	0.75846	.	.	ENSG00000050426	ENST00000262055;ENST00000550442;ENST00000549340;ENST00000548209;ENST00000548251;ENST00000380123;ENST00000548401;ENST00000418425;ENST00000448283;ENST00000547008;ENST00000552739	T;T;T;T;T;T;T;T;T	0.60672	0.58;0.48;0.17;0.35;0.29;0.39;0.48;0.56;0.35	4.69	4.69	0.59074	.	0.340919	0.29246	N	0.012712	T	0.65565	0.2703	L	0.34521	1.04	0.36848	D	0.887753	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.995;1.0;0.999;1.0;0.998	D;D;P;D;D;D;P	0.87578	0.998;0.996;0.695;0.996;0.991;0.996;0.771	T	0.71144	-0.4678	10	0.87932	D	0	-6.7628	13.4282	0.61039	0.0:1.0:0.0:0.0	.	2;2;2;2;2;2;2	B7Z9A7;F8VVQ3;B3KXK7;F8W6J0;F8W1Z2;F8VP71;Q6P1Q0	.;.;.;.;.;.;LTMD1_HUMAN	V	2	ENSP00000262055:A2V;ENSP00000448110:A2V;ENSP00000449896:A2V;ENSP00000450275:A2V;ENSP00000447166:A2V;ENSP00000369466:A2V;ENSP00000450082:A2V;ENSP00000389903:A2V;ENSP00000447419:A2V	ENSP00000262055:A2V	A	+	2	0	LETMD1	49728411	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	3.133000	0.50531	2.885000	0.99019	0.655000	0.94253	GCG		0.592	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404710.1	NM_015416		87	59	0	0	0	1	0	87	59					T	51442144	C	T	51442144	3	4	371	1	0	0	0	0	1	0	0	0	8736	768	27	1	7	1	LETMD1	12	51442144	Missense_Mutation	SNP	C	TCGA-ET-A39N-01A-11D-A19J-08		51442144	82409751	9	7828											
CSPG4	1464	broad.mit.edu	37	chr15	75969141	75969141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgctgctcccgttggccaCgaaggccagccgccctgaat	11	17	0	1	rs368180303		TCGA-ET-A39N-01A-11D-A19J-08	TCGA-ET-A39N-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5904b857-04c7-404e-83b5-0d000ae43a35	5ab942e6-6a35-4b33-a4fa-8061207d8ec4	g.chr15:75969141C>T	ENST00000308508.5	-	10	5811	c.5719G>A	c.(5719-5721)Gtg>Atg	p.V1907M	CTD-2026K11.1_ENST00000569467.1_RNA|AC105020.1_ENST00000435356.1_5'Flank	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1907	Cysteine-containing.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CCGTTGGCCACGAAGGCCAGC	0.672																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(5719-5721)Gtg>Atg		chondroitin sulfate proteoglycan 4		C	MET/VAL	0,4394		0,0,2197	29	30	30		5719	0.3	0.9	15		30	1,8583		0,1,4291	no	missense	CSPG4	NM_001897.4	21	0,1,6488	TT,TC,CC		0.0116,0.0,0.0077	benign	1907/2323	75969141	1,12977	2197	4292	6489	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75969141C>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.5719G>A	15.37:g.75969141C>T	ENSP00000312506:p.Val1907Met					CTD-2026K11.1_ENST00000569467.1_RNA	p.V1907M	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			10	5811	-			1907			Cysteine-containing.|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.5719G>A	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.495977	0.26774	0.0	1.16E-4	ENSG00000173546	ENST00000308508	T	0.24538	1.85	5.04	0.347	0.16022	.	0.969624	0.08452	N	0.943773	T	0.23210	0.0561	L	0.56769	1.78	0.09310	N	0.999999	B	0.27656	0.184	B	0.18871	0.023	T	0.27191	-1.0081	10	0.59425	D	0.04	.	6.5275	0.22309	0.0:0.5446:0.1265:0.3288	.	1907	Q6UVK1	CSPG4_HUMAN	M	1907	ENSP00000312506:V1907M	ENSP00000312506:V1907M	V	-	1	0	CSPG4	73756196	0.002000	0.14202	0.943000	0.38184	0.961000	0.63080	-0.078000	0.11375	0.161000	0.19458	0.555000	0.69702	GTG		0.672	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		4	11	0	0	0	1	0	4	11					T	75969141	C	T	75969141	3	4	371	1	0	0	0	0	1	0	0	0	3960	536	19	1	1253	1	CSPG4	15	75969141	Missense_Mutation	SNP	C	TCGA-ET-A39N-01A-11D-A19J-08		75969141	26562251	10	7829											
AXIN1	8312	broad.mit.edu	37	chr16	341240	341240	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggtaccacgtgcagcacCggcgcgcacgctggcctgac	14	16	0	1			TCGA-ET-A39N-01A-11D-A19J-08	TCGA-ET-A39N-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5904b857-04c7-404e-83b5-0d000ae43a35	5ab942e6-6a35-4b33-a4fa-8061207d8ec4	g.chr16:341240C>T	ENST00000262320.3	-	9	2615	c.2244G>A	c.(2242-2244)ccG>ccA	p.P748P	AXIN1_ENST00000354866.3_Intron	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	748	Interaction with HIPK2. {ECO:0000250}.|Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CGTGCAGCACCGGCGCGCACG	0.692																																						ENST00000262320.3																			0				biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221						c.(2242-2244)ccG>ccA		axin 1							50	35	40					16																	341240		2166	4271	6437	SO:0001819	synonymous_variant	8312				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr16:341240C>T	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	903	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 49"	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.2244G>A	16.37:g.341240C>T						AXIN1_ENST00000354866.3_Intron	p.P748P	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN			9	2615	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	748			Interaction with HIPK2 (By similarity).|Interaction with PPP2CA.|Interaction with RNF111.		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Silent	SNP	ENST00000262320.3	37	c.2244G>A	CCDS10405.1																																																																																				0.692	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			3	7	0	0	0	1	0	3	7					T	341240	C	T	341240	2	4	371	1	0	0	0	0	0	0	0	1	1236	639	23	1		1	AXIN1	16	341240	Silent	SNP	C	TCGA-ET-A39N-01A-11D-A19J-08		341240	90013513	11	7830											
KARS	3735	broad.mit.edu	37	chr16	75662486	75662486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgatgttgttggagtccGtgagaaacatggcgactcga	13	8	0	2			TCGA-ET-A39N-01A-11D-A19J-08	TCGA-ET-A39N-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5904b857-04c7-404e-83b5-0d000ae43a35	5ab942e6-6a35-4b33-a4fa-8061207d8ec4	g.chr16:75662486G>A	ENST00000302445.3	-	13	1715	c.1676C>T	c.(1675-1677)aCg>aTg	p.T559M	KARS_ENST00000319410.5_Missense_Mutation_p.T587M|KARS_ENST00000568378.1_Intron	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	559					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|lysyl-tRNA aminoacylation (GO:0006430)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)|viral process (GO:0016032)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|microtubule cytoskeleton (GO:0015630)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid binding (GO:0016597)|ATP binding (GO:0005524)|lysine-tRNA ligase activity (GO:0004824)|metal ion binding (GO:0046872)|tRNA binding (GO:0000049)			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	GTTGGAGTCCGTGAGAAACAT	0.552																																						ENST00000319410.5																			0				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18						c.(1759-1761)aCg>aTg		lysyl-tRNA synthetase	L-Lysine(DB00123)						109	104	106					16																	75662486		2198	4300	6498	SO:0001583	missense	3735				interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding	g.chr16:75662486G>A	AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	6.1.1.6	"Aminoacyl tRNA synthetases / Class II"	6215	protein-coding gene	gene with protein product	"lysine tRNA ligase"	601421	"deafness, autosomal recessive 89"	DFNB89		8812440, 9278442, 23768514	Standard	NM_005548		Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000302445.3:c.1676C>T	16.37:g.75662486G>A	ENSP00000303043:p.Thr559Met					KARS_ENST00000568378.1_Intron|KARS_ENST00000302445.3_Missense_Mutation_p.T559M	p.T587M	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN			14	1881	-			559					A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Missense_Mutation	SNP	ENST00000302445.3	37	c.1760C>T	CCDS10923.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.746502	0.89663	.	.	ENSG00000065427	ENST00000319410;ENST00000302445	T;T	0.81330	-1.48;-1.48	6.16	6.16	0.99307	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.000000	0.85682	D	0.000000	D	0.94810	0.8324	H	0.99261	4.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.96283	0.9208	10	0.87932	D	0	-5.1885	19.4379	0.94804	0.0:0.0:1.0:0.0	.	587;559	Q15046-2;Q15046	.;SYK_HUMAN	M	587;559	ENSP00000325448:T587M;ENSP00000303043:T559M	ENSP00000303043:T559M	T	-	2	0	KARS	74219987	1.000000	0.71417	0.992000	0.48379	0.878000	0.50629	9.747000	0.98863	2.937000	0.99478	0.650000	0.86243	ACG		0.552	KARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269023.1	NM_005548		3	53	0	0	0	1	0	3	53					A	75662486	G	A	75662486	3	1	371	1	0	0	0	0	1	0	0	0	7980	1145	40	1	125	1	KARS	16	75662486	Missense_Mutation	SNP	G	TCGA-ET-A39N-01A-11D-A19J-08	75321246	75662486	14692267	12	7831											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299431	125299431	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggccagaagcgtcttggaGggattcagctcgatggcatg	16	8	2	1			TCGA-ET-A39N-01A-11D-A19J-08	TCGA-ET-A39N-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5904b857-04c7-404e-83b5-0d000ae43a35	5ab942e6-6a35-4b33-a4fa-8061207d8ec4	g.chrX:125299431G>A	ENST00000360028.2	-	1	503	c.477C>T	c.(475-477)ccC>ccT	p.P159P	DCAF12L2_ENST00000538699.1_Silent_p.P159P			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	159										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						GCGTCTTGGAGGGATTCAGCT	0.687																																						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.(475-477)ccC>ccT		DDB1 and CUL4 associated factor 12-like 2							71	78	76					X																	125299431		2203	4299	6502	SO:0001819	synonymous_variant	340578							g.chrX:125299431G>A	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.477C>T	X.37:g.125299431G>A						DCAF12L2_ENST00000360028.2_Silent_p.P159P	p.P159P	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	557	-			159					B2RN42	Silent	SNP	ENST00000360028.2	37	c.477C>T	CCDS43991.1																																																																																				0.687	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		6	142	0	0	0	1	0	6	142					A	125299431	G	A	125299431	2	1	371	1	0	0	0	0	0	0	0	1	4265	987	35	2		2	DCAF12L2	23	125299431	Silent	SNP	G	TCGA-ET-A39N-01A-11D-A19J-08		125299431	29971129	13	7832											
CDK11A	728642	broad.mit.edu	37	chr1	1636450	1636450	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctccatcttcagccgctttaGagccacaatttcatctgtga	6	13	4	2			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr1:1636450G>C	ENST00000378633.1	-	13	1439	c.1360C>G	c.(1360-1362)Cta>Gta	p.L454V	CDK11A_ENST00000356200.3_Missense_Mutation_p.L417V|CDK11A_ENST00000495016.1_5'Flank|CDK11A_ENST00000357760.2_Missense_Mutation_p.L450V|CDK11A_ENST00000404249.3_Missense_Mutation_p.L451V|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378638.2_Missense_Mutation_p.L417V|CDK11A_ENST00000358779.5_Missense_Mutation_p.L441V			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	454	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						AGCCGCTTTAGAGCCACAATT	0.527																																					Pancreas(186;965 2119 30274 40311 50569)	ENST00000356200.3																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						c.(1249-1251)Cta>Gta		cyclin-dependent kinase 11A							72	106	95					1																	1636450		1862	4083	5945	SO:0001583	missense	728642							g.chr1:1636450G>C	AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"Cyclin-dependent kinases"	1730	protein-coding gene	gene with protein product		116951	"cell division cycle 2-like 2", "cell division cycle 2-like 2 (PITSLRE proteins)"	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.1360C>G	1.37:g.1636450G>C	ENSP00000367900:p.Leu454Val					CDK11A_ENST00000357760.2_Missense_Mutation_p.L450V|CDK11A_ENST00000358779.5_Missense_Mutation_p.L441V|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378638.2_Missense_Mutation_p.L417V|CDK11A_ENST00000378633.1_Missense_Mutation_p.L454V|CDK11A_ENST00000404249.3_Missense_Mutation_p.L451V	p.L417V							12	1483	-								O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	Missense_Mutation	SNP	ENST00000378633.1	37	c.1249C>G		.	.	.	.	.	.	.	.	.	.	-	7.607	0.674066	0.14841	.	.	ENSG00000008128	ENST00000356200;ENST00000404249;ENST00000357760;ENST00000358779;ENST00000378633;ENST00000378638;ENST00000378630	T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12	2.6	1.66	0.24008	.	0.000000	0.85682	D	0.000000	T	0.59197	0.2176	N	0.25426	0.745	0.80722	D	1	D;D;D;D;D	0.69078	0.997;0.997;0.974;0.974;0.994	D;D;D;D;D	0.76071	0.987;0.987;0.953;0.953;0.919	T	0.59069	-0.7523	10	0.87932	D	0	.	8.5687	0.33556	0.1224:0.0:0.8776:0.0	.	451;441;451;441;68	B4E0M9;B4E0N4;Q9UQ88-2;Q9UQ88-4;Q9UQ88-5	.;.;.;.;.	V	417;451;450;441;454;417;417	ENSP00000348529:L417V;ENSP00000384442:L451V;ENSP00000350403:L450V;ENSP00000351629:L441V;ENSP00000367900:L454V;ENSP00000367905:L417V	ENSP00000348529:L417V	L	-	1	2	CDK11A	1626310	0.750000	0.28316	1.000000	0.80357	0.098000	0.18820	0.712000	0.25779	0.435000	0.26365	0.531000	0.56144	CTA		0.527	CDK11A-005	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000001735.1	NM_024011		34	61	0	0	0	1	0	34	61					C	1636450	G	C	1636450	3	2	372	1	0	0	0	0	1	0	0	0	3126	933	33	4	1023	4	CDK11A	1	1636450	Missense_Mutation	SNP	G	TCGA-ET-A39O-01A-11D-A19J-08		1636450	247614171	1	7833											
TOR1AIP1	26092	broad.mit.edu	37	chr1	179887369	179887369	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctgaaaaggggcatctgcTtataagaagtgagagagaag	13	6	1	4			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr1:179887369T>C	ENST00000606911.2	+	10	1938	c.1747T>C	c.(1747-1749)Tta>Cta	p.L583L	TOR1AIP1_ENST00000528443.2_Silent_p.L584L|TOR1AIP1_ENST00000271583.3_Silent_p.L599L|TOR1AIP1_ENST00000435319.4_Silent_p.L462L			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	583	Interaction with TOR1A.				positive regulation of ATPase activity (GO:0032781)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						GGGCATCTGCTTATAAGAAGT	0.418																																						ENST00000435319.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						c.(1747-1749)Tta>Cta		torsin A interacting protein 1							32	35	34					1																	179887369		2196	4284	6480	SO:0001819	synonymous_variant	26092					integral to membrane|nuclear inner membrane		g.chr1:179887369T>C		CCDS1335.1, CCDS65737.1	1q24.2	2008-02-05			ENSG00000143337	ENSG00000143337			29456	protein-coding gene	gene with protein product	"lamina associated polypeptide 1B"	614512				12061773, 15767459	Standard	NM_015602		Approved	LAP1B, FLJ13142	uc001gnp.2	Q5JTV8	OTTHUMG00000035257	ENST00000606911.2:c.1747T>C	1.37:g.179887369T>C						TOR1AIP1_ENST00000271583.3_Silent_p.L599L	p.L583L	NM_001267578.1|NM_015602.3	NP_001254507.1|NP_056417.2	Q5JTV8	TOIP1_HUMAN			10	1938	+			583					A8K630|B0QZ57|Q5JTV6|Q8IZ65|Q9H8Y6|Q9HAJ1|Q9NV52|Q9Y3X5	Silent	SNP	ENST00000606911.2	37	c.1747T>C	CCDS1335.1																																																																																				0.418	TOR1AIP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000100313.4	NM_015602		3	41	0	0	0	1	0	3	41					C	179887369	T	C	179887369	2	2	372	1	0	0	0	0	0	0	0	1	16369	1606	56	3		3	TOR1AIP1	1	179887369	Silent	SNP	T	TCGA-ET-A39O-01A-11D-A19J-08	178250919	179887369	69363252	2	7834											
MST1	63891	broad.mit.edu	37	chr3	49724384	49724384	+	5'Flank	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	taccgcctacgcgtacttgcCcggctcgaaggggtgctggt	14	13	0	0			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr3:49724384C>G	ENST00000327697.6	+	0	0				MST1_ENST00000494828.2_5'UTR|MST1_ENST00000545762.1_3'UTR|MST1_ENST00000383728.3_Missense_Mutation_p.G167R|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000449682.2_Missense_Mutation_p.G242R|RNF123_ENST00000432042.1_5'Flank	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123						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)		GCGTACTTGCCCGGCTCGAAG	0.697																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(724-726)Ggc>Cgc		macrophage stimulating 1 (hepatocyte growth factor-like)							11	13	13					3																	49724384		2083	4143	6226	SO:0001631	upstream_gene_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49724384C>G	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		3.37:g.49724384C>G	Exception_encountered					MST1_ENST00000545762.1_3'UTR|MST1_ENST00000494828.2_5'UTR|MST1_ENST00000383728.3_Missense_Mutation_p.G167R	p.G242R	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	6	1085	-			228			Kringle 2.		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.724G>C	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.403364	0.25291	.	.	ENSG00000173531	ENST00000449682;ENST00000383728	T;T	0.65178	-0.14;-0.14	5.66	-2.85	0.05734	Kringle (4);Kringle-like fold (1);	0.998820	0.08099	N	0.998119	T	0.43567	0.1253	N	0.16656	0.425	0.30802	N	0.739733	B;B;B	0.28512	0.008;0.166;0.214	B;B;B	0.32583	0.041;0.148;0.091	T	0.44390	-0.9331	10	0.30854	T	0.27	.	8.8331	0.35096	0.0:0.3603:0.1022:0.5375	.	228;228;242	B7Z538;P26927;G3XAK1	.;HGFL_HUMAN;.	R	242;167	ENSP00000414287:G242R;ENSP00000373234:G167R	ENSP00000373234:G167R	G	-	1	0	MST1	49699388	0.000000	0.05858	0.077000	0.20336	0.429000	0.31625	-0.445000	0.06845	-0.417000	0.07461	-0.218000	0.12543	GGC		0.697	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		11	20	0	0	0	1	0	11	20					G	49724384	C	G	49724384	1	3	372	0	1	0	0	0	0	0	0	0	9890	623	22	4		4	MST1	3	49724384	5'Flank	SNP	C	TCGA-ET-A39O-01A-11D-A19J-08		49724384	148298046	3	7835											
LAMP3	27074	broad.mit.edu	37	chr3	182871615	182871615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaccgtggaggcaggtgcaGctgtgcgggtggtattgtgg	20	6	0	0			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr3:182871615G>A	ENST00000265598.3	-	2	869	c.614C>T	c.(613-615)gCt>gTt	p.A205V	LAMP3_ENST00000466939.1_Missense_Mutation_p.A181V	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	205	Thr-rich.				cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			GGCAGGTGCAGCTGTGCGGGT	0.547																																						ENST00000265598.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28						c.(613-615)gCt>gTt		lysosomal-associated membrane protein 3							114	112	113					3																	182871615		2203	4300	6503	SO:0001583	missense	27074				cell proliferation	integral to membrane|lysosomal membrane		g.chr3:182871615G>A	AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"CD molecules"	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.614C>T	3.37:g.182871615G>A	ENSP00000265598:p.Ala205Val					LAMP3_ENST00000466939.1_Missense_Mutation_p.A181V	p.A205V	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)		2	869	-	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		205			Thr-rich.		D3DNS4|O94781|Q8NEC8	Missense_Mutation	SNP	ENST00000265598.3	37	c.614C>T	CCDS3242.1	.	.	.	.	.	.	.	.	.	.	g	18.08	3.544307	0.65198	.	.	ENSG00000078081	ENST00000265598;ENST00000466939	T;T	0.33865	1.39;1.39	5.81	3.08	0.35506	.	0.747577	0.12286	N	0.482415	T	0.35278	0.0926	M	0.64997	1.995	0.09310	N	1	P	0.34462	0.454	B	0.34138	0.176	T	0.23190	-1.0195	10	0.59425	D	0.04	-1.5306	8.0317	0.30470	0.2508:0.0:0.7492:0.0	.	205	Q9UQV4	LAMP3_HUMAN	V	205;181	ENSP00000265598:A205V;ENSP00000418912:A181V	ENSP00000265598:A205V	A	-	2	0	LAMP3	184354309	0.006000	0.16342	0.000000	0.03702	0.010000	0.07245	1.496000	0.35638	0.377000	0.24735	0.655000	0.94253	GCT		0.547	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350863.1			4	105	0	0	0	1	0	4	105					A	182871615	G	A	182871615	3	1	372	1	0	0	0	0	1	0	0	0	8619	971	34	2	656	2	LAMP3	3	182871615	Missense_Mutation	SNP	G	TCGA-ET-A39O-01A-11D-A19J-08	133147231	182871615	15150815	4	7836											
GALNT7	51809	broad.mit.edu	37	chr4	174169178	174169178	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccaaccgaggcggcaatggActagctcctggggaggacag	15	12	0	0			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr4:174169178A>G	ENST00000265000.4	+	2	257	c.174A>G	c.(172-174)ggA>ggG	p.G58G	GALNT7_ENST00000512285.1_Silent_p.G58G	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	58					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		GCGGCAATGGACTAGCTCCTG	0.478																																						ENST00000265000.4																			0				central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19						c.(172-174)ggA>ggG		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)							73	69	70					4																	174169178		2203	4300	6503	SO:0001819	synonymous_variant	51809				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:174169178A>G	AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"Glycosyltransferase family 2 domain containing"	4129	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 7"	605005	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.174A>G	4.37:g.174169178A>G						GALNT7_ENST00000512285.1_Silent_p.G58G	p.G58G	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)	2	257	+		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	58					B3KQU3|Q7Z5W7|Q9UJ28	Silent	SNP	ENST00000265000.4	37	c.174A>G	CCDS3815.1																																																																																				0.478	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362456.2	NM_017423		5	73	0	0	0	1	0	5	73					G	174169178	A	G	174169178	2	3	372	1	0	0	0	0	0	0	0	1	6218	262	10	3		3	GALNT7	4	174169178	Silent	SNP	A	TCGA-ET-A39O-01A-11D-A19J-08		174169178	16985098	5	7837											
PLK2	10769	broad.mit.edu	37	chr5	57751948	57751948	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttctactgcgggtgttccaGacctggcaactgtggtggta	13	9	1	1			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr5:57751948G>A	ENST00000274289.3	-	10	1589	c.1289C>T	c.(1288-1290)tCt>tTt	p.S430F	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	430					G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		GGGTGTTCCAGACCTGGCAAC	0.473																																						ENST00000274289.3																			0				endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26						c.(1288-1290)tCt>tTt		polo-like kinase 2							100	95	97					5																	57751948		2203	4300	6503	SO:0001583	missense	10769				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr5:57751948G>A		CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"serum-inducible kinase"	607023	"polo-like kinase 2 (Drosophila)"				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.1289C>T	5.37:g.57751948G>A	ENSP00000274289:p.Ser430Phe					PLK2_ENST00000502671.1_Intron	p.S430F	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)	10	1589	-		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)	430					O60679|Q96CV7|Q9UE61	Missense_Mutation	SNP	ENST00000274289.3	37	c.1289C>T	CCDS3974.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100871	0.76983	.	.	ENSG00000145632	ENST00000274289	T	0.68479	-0.33	5.88	5.88	0.94601	.	0.364927	0.34338	N	0.004043	T	0.59824	0.2222	L	0.42245	1.32	0.48696	D	0.999698	P	0.34780	0.468	B	0.28139	0.086	T	0.60647	-0.7222	10	0.48119	T	0.1	-12.6282	18.4227	0.90597	0.0:0.0:1.0:0.0	.	430	Q9NYY3	PLK2_HUMAN	F	430	ENSP00000274289:S430F	ENSP00000274289:S430F	S	-	2	0	PLK2	57787705	1.000000	0.71417	0.819000	0.32651	0.967000	0.64934	7.031000	0.76491	2.788000	0.95919	0.650000	0.86243	TCT		0.473	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622		5	79	0	0	0	1	0	5	79					A	57751948	G	A	57751948	3	1	372	1	0	0	0	0	1	0	0	0	12096	942	33	2	788	2	PLK2	5	57751948	Missense_Mutation	SNP	G	TCGA-ET-A39O-01A-11D-A19J-08		57751948	123163312	6	7838											
DSE	29940	broad.mit.edu	37	chr6	116758279	116758279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaggccggtttggacaggCacggatggtgacaactacac	13	9	0	1			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr6:116758279C>T	ENST00000331677.3	+	7	3092	c.2648C>T	c.(2647-2649)gCa>gTa	p.A883V	DSE_ENST00000537543.1_Missense_Mutation_p.A902V|DSE_ENST00000359564.2_Missense_Mutation_p.A883V|DSE_ENST00000452085.3_Missense_Mutation_p.A883V			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	883					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TTTGGACAGGCACGGATGGTG	0.418																																						ENST00000331677.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(2647-2649)gCa>gTa		dermatan sulfate epimerase							134	115	121					6																	116758279		2203	4300	6503	SO:0001583	missense	29940				dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	g.chr6:116758279C>T	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"squamous cell carcinoma antigen recognized by T cells 2"	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.2648C>T	6.37:g.116758279C>T	ENSP00000332151:p.Ala883Val					DSE_ENST00000537543.1_Missense_Mutation_p.A902V|DSE_ENST00000452085.3_Missense_Mutation_p.A883V|DSE_ENST00000359564.2_Missense_Mutation_p.A883V	p.A883V			Q9UL01	DSE_HUMAN		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	7	3092	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	883					Q5R3K6	Missense_Mutation	SNP	ENST00000331677.3	37	c.2648C>T	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.405581	0.01155	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T	0.16897	2.32;2.31;2.32;2.32	5.94	-0.22	0.13130	.	0.438786	0.26153	N	0.026035	T	0.01835	0.0058	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44498	-0.9324	10	0.28530	T	0.3	0.2808	2.5329	0.04707	0.1196:0.5118:0.1159:0.2527	.	902;883	B7Z765;Q9UL01	.;DSE_HUMAN	V	883;902;883;883	ENSP00000404049:A883V;ENSP00000441152:A902V;ENSP00000332151:A883V;ENSP00000352567:A883V	ENSP00000332151:A883V	A	+	2	0	DSE	116864972	0.653000	0.27358	0.007000	0.13788	0.029000	0.11900	1.182000	0.32029	-0.357000	0.08175	-0.142000	0.14014	GCA		0.418	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352		37	56	0	0	0	1	0	37	56					T	116758279	C	T	116758279	3	4	372	1	0	0	0	0	1	0	0	0	4774	710	25	2	2666	2	DSE	6	116758279	Missense_Mutation	SNP	C	TCGA-ET-A39O-01A-11D-A19J-08		116758279	54356788	7	7839											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		23	62	0	0	0	1	0	23	62					T	140453136	A	T	140453136	3	4	372	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A39O-01A-11D-A19J-08		140453136	18685527	8	7840											
SSPO	23145	broad.mit.edu	37	chr7	149494406	149494406	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctctcctctgcccagccgGggcagctgctgcactggccc	11	20	2	0			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr7:149494406G>T	ENST00000378016.2	+	0	6877							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCCCAGCCGGGGCAGCTGCT	0.662																																						ENST00000378016.2																			0													SCO-spondin							46	53	50					7																	149494406		1992	4150	6142			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149494406G>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149494406G>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	6877	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.662	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				3	46	1	0	1	1	1	3	46					T	149494406	G	T	149494406	1	4	372	0	1	0	0	0	0	0	0	0	15188	1232	43	4		4	SSPO	7	149494406	RNA	SNP	G	TCGA-ET-A39O-01A-11D-A19J-08	9041270	149494406	9644257	9	7841											
TBC1D2	55357	broad.mit.edu	37	chr9	100961815	100961815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggaccatgcgcagctgccGcagctgtttcatgcggaagg	15	11	1	0			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr9:100961815G>A	ENST00000375066.5	-	13	2693	c.2602C>T	c.(2602-2604)Cgg>Tgg	p.R868W	TBC1D2_ENST00000375063.1_Missense_Mutation_p.R419W|TBC1D2_ENST00000342112.5_Missense_Mutation_p.R661W|TBC1D2_ENST00000375064.1_3'UTR	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	879					positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)	p.R868W(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CGCAGCTGCCGCAGCTGTTTC	0.637																																						ENST00000375066.5																			1	Substitution - Missense(1)	p.R868W(1)	large_intestine(1)	breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(2602-2604)Cgg>Tgg		TBC1 domain family, member 2							134	139	137					9																	100961815		2203	4299	6502	SO:0001583	missense	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100961815G>A	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"prostate antigen recognized and identified by SEREX"	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375066.5:c.2602C>T	9.37:g.100961815G>A	ENSP00000364207:p.Arg868Trp					TBC1D2_ENST00000375064.1_3'UTR|TBC1D2_ENST00000342112.5_Missense_Mutation_p.R661W|TBC1D2_ENST00000375063.1_Missense_Mutation_p.R419W	p.R868W	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	13	2693	-		Myeloproliferative disorder(762;0.0255)	879					B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375066.5	37	c.2602C>T	CCDS35080.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300297	0.60195	.	.	ENSG00000095383	ENST00000375066;ENST00000342112;ENST00000375063	T;T;T	0.09911	2.93;3.38;3.01	5.51	3.51	0.40186	.	0.272292	0.34603	N	0.003838	T	0.13372	0.0324	M	0.76328	2.33	0.30554	N	0.765152	B;P	0.35982	0.396;0.531	B;B	0.31495	0.062;0.131	T	0.09335	-1.0679	10	0.87932	D	0	.	10.2646	0.43447	0.0824:0.0:0.757:0.1607	.	879;868	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	W	868;661;419	ENSP00000364207:R868W;ENSP00000341567:R661W;ENSP00000364203:R419W	ENSP00000341567:R661W	R	-	1	2	TBC1D2	100001636	0.025000	0.19082	0.986000	0.45419	0.658000	0.38924	0.841000	0.27613	1.330000	0.45394	0.511000	0.50034	CGG		0.637	TBC1D2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053367.1	NM_018421		7	151	0	0	0	1	0	7	151					A	100961815	G	A	100961815	3	1	372	1	0	0	0	0	1	0	0	0	15605	1086	38	1	155	1	TBC1D2	9	100961815	Missense_Mutation	SNP	G	TCGA-ET-A39O-01A-11D-A19J-08		100961815	40251616	10	7842											
DCAF5	8816	broad.mit.edu	37	chr14	69522320	69522320	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcctggctgcttgtatggGctccagatctgaacagaaaa	10	10	1	3			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr14:69522320G>A	ENST00000341516.5	-	9	1230	c.1083C>T	c.(1081-1083)agC>agT	p.S361S	DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000556847.1_Silent_p.S279S|DCAF5_ENST00000557386.1_Silent_p.S360S|DCAF5_ENST00000554215.1_Silent_p.S279S	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	361					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						GCTTGTATGGGCTCCAGATCT	0.473																																						ENST00000341516.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						c.(1081-1083)agC>agT		DDB1 and CUL4 associated factor 5							113	114	114					14																	69522320		2203	4300	6503	SO:0001819	synonymous_variant	8816					CUL4 RING ubiquitin ligase complex		g.chr14:69522320G>A	AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20224	protein-coding gene	gene with protein product		603812	"WD repeat domain 22"	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.1083C>T	14.37:g.69522320G>A						DCAF5_ENST00000554215.1_Silent_p.S279S|DCAF5_ENST00000556847.1_Silent_p.S279S|DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000557386.1_Silent_p.S360S	p.S361S	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN			9	1230	-			361					B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Silent	SNP	ENST00000341516.5	37	c.1083C>T	CCDS32106.1																																																																																				0.473	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	NM_003861		47	74	0	0	0	1	0	47	74					A	69522320	G	A	69522320	2	1	372	1	0	0	0	0	0	0	0	1	4273	1194	42	2		2	DCAF5	14	69522320	Silent	SNP	G	TCGA-ET-A39O-01A-11D-A19J-08		69522320	37827220	11	7843											
PPP2R5C	5527	broad.mit.edu	37	chr14	102276323	102276323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaggatggtggtggatgCggccaactccaatgggcctt	15	10	0	0			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr14:102276323C>T	ENST00000334743.5	+	1	92	c.44C>T	c.(43-45)gCg>gTg	p.A15V	PPP2R5C_ENST00000557095.1_Missense_Mutation_p.A15V|PPP2R5C_ENST00000556068.1_Intron|PPP2R5C_ENST00000557714.1_Missense_Mutation_p.A15V|PPP2R5C_ENST00000554442.1_Intron|PPP2R5C_ENST00000556946.1_Missense_Mutation_p.A15V|PPP2R5C_ENST00000422945.2_Intron|CTD-2017C7.2_ENST00000554859.1_RNA|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.A15V|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.A15V|PPP2R5C_ENST00000328724.5_Intron	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	15					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GTGGTGGATGCGGCCAACTCC	0.498																																						ENST00000334743.5																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(43-45)gCg>gTg		protein phosphatase 2, regulatory subunit B', gamma							146	126	133					14																	102276323		2203	4300	6503	SO:0001583	missense	5527				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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:102276323C>T	L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9311	protein-coding gene	gene with protein product		601645	"protein phosphatase 2, regulatory subunit B (B56), gamma isoform", "protein phosphatase 2, regulatory subunit B', gamma isoform"			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.44C>T	14.37:g.102276323C>T	ENSP00000333905:p.Ala15Val					PPP2R5C_ENST00000554442.1_Intron|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.A15V|PPP2R5C_ENST00000422945.2_Intron|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.A15V|PPP2R5C_ENST00000328724.5_Intron|PPP2R5C_ENST00000557714.1_Missense_Mutation_p.A15V|CTD-2017C7.2_ENST00000554859.1_RNA|PPP2R5C_ENST00000557095.1_Missense_Mutation_p.A15V|PPP2R5C_ENST00000556946.1_Missense_Mutation_p.A15V|PPP2R5C_ENST00000556068.1_Intron	p.A15V	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN			1	92	+			15					B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Missense_Mutation	SNP	ENST00000334743.5	37	c.44C>T	CCDS9964.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032136	0.75504	.	.	ENSG00000078304	ENST00000350249;ENST00000557621;ENST00000445439;ENST00000334743;ENST00000557095	T;T	0.46819	0.87;0.86	5.63	5.63	0.86233	.	.	.	.	.	T	0.51058	0.1652	N	0.10972	0.075	0.80722	D	1	D;D;B;D	0.76494	0.986;0.999;0.0;0.992	P;D;B;D	0.71184	0.835;0.972;0.0;0.921	T	0.53535	-0.8425	9	0.30078	T	0.28	.	19.7096	0.96089	0.0:1.0:0.0:0.0	.	15;15;15;15	B4DI74;Q13362-3;Q13362;Q13362-2	.;.;2A5G_HUMAN;.	V	15	ENSP00000262239:A15V;ENSP00000333905:A15V	ENSP00000333905:A15V	A	+	2	0	PPP2R5C	101346076	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	5.375000	0.66173	2.652000	0.90054	0.655000	0.94253	GCG		0.498	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414373.2	NM_002719		3	50	0	0	0	1	0	3	50					T	102276323	C	T	102276323	3	4	372	1	0	0	0	0	1	0	0	0	12394	768	27	1	317	1	PPP2R5C	14	102276323	Missense_Mutation	SNP	C	TCGA-ET-A39O-01A-11D-A19J-08	32754003	102276323	5073217	12	7844											
MYBBP1A	10514	broad.mit.edu	37	chr17	4443214	4443214	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttactgatggggctctgGgtggcactggggatctcctt	14	9	3	1			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr17:4443214G>A	ENST00000254718.4	-	26	3789	c.3483C>T	c.(3481-3483)acC>acT	p.T1161T	MYBBP1A_ENST00000381556.2_Silent_p.T1161T			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1161	Required for nuclear and nucleolar localization. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						TGGGGCTCTGGGTGGCACTGG	0.572																																						ENST00000254718.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						c.(3481-3483)acC>acT		MYB binding protein (P160) 1a							81	88	86					17																	4443214		2203	4298	6501	SO:0001819	synonymous_variant	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4443214G>A	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"p53-activated protein-2"	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.3483C>T	17.37:g.4443214G>A						MYBBP1A_ENST00000381556.2_Silent_p.T1161T	p.T1161T			Q9BQG0	MBB1A_HUMAN			26	3789	-			1161			Required for nuclear and nucleolar localization (By similarity).		Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Silent	SNP	ENST00000254718.4	37	c.3483C>T	CCDS11046.1																																																																																				0.572	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		13	133	0	0	0	1	0	13	133					A	4443214	G	A	4443214	2	1	372	1	0	0	0	0	0	0	0	1	10008	1219	43	2		2	MYBBP1A	17	4443214	Silent	SNP	G	TCGA-ET-A39O-01A-11D-A19J-08		4443214	76751996	13	7845											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299510	125299510	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtcccgcatgagggggAtgcgcgtgatgtggcctgac	16	11	0	3			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chrX:125299510A>T	ENST00000360028.2	-	1	424	c.398T>A	c.(397-399)aTc>aAc	p.I133N	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.I133N			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	133										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						CATGAGGGGGATGCGCGTGAT	0.642																																						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.(397-399)aTc>aAc		DDB1 and CUL4 associated factor 12-like 2							88	82	84					X																	125299510		2203	4300	6503	SO:0001583	missense	340578							g.chrX:125299510A>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.398T>A	X.37:g.125299510A>T	ENSP00000353128:p.Ile133Asn					DCAF12L2_ENST00000360028.2_Missense_Mutation_p.I133N	p.I133N	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	478	-			133					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.398T>A	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	a	11.58	1.682049	0.29872	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.38240	1.15;1.15	3.89	2.69	0.31865	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.48607	0.1509	M	0.82716	2.605	0.32600	N	0.526046	D	0.61080	0.989	P	0.52189	0.692	T	0.61098	-0.7131	9	0.72032	D	0.01	.	6.4507	0.21902	0.752:0.248:0.0:0.0	.	133	Q5VW00	DC122_HUMAN	N	133	ENSP00000441489:I133N;ENSP00000353128:I133N	ENSP00000353128:I133N	I	-	2	0	DCAF12L2	125127191	1.000000	0.71417	0.019000	0.16419	0.004000	0.04260	7.273000	0.78527	0.633000	0.30452	0.438000	0.28831	ATC		0.642	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		4	55	0	0	0	1	0	4	55					T	125299510	A	T	125299510	3	4	372	1	0	0	0	0	1	0	0	0	4265	333	12	5	997	5	DCAF12L2	23	125299510	Missense_Mutation	SNP	A	TCGA-ET-A39O-01A-11D-A19J-08		125299510	29971050	14	7846											
DMRTB1	63948	broad.mit.edu	37	chr1	53927304	53927304	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgtgtcccgcagccagtacCaaggcggaggcttggtgagt	15	10	0	1			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr1:53927304C>A	ENST00000371445.3	+	2	791	c.736C>A	c.(736-738)Caa>Aaa	p.Q246K	DMRTB1_ENST00000463126.1_3'UTR	NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	246	Pro-rich.				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)			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						CAGCCAGTACCAAGGCGGAGG	0.662																																						ENST00000371445.3																			0				large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						c.(736-738)Caa>Aaa		DMRT-like family B with proline-rich C-terminal, 1							41	42	42					1																	53927304		2203	4300	6503	SO:0001583	missense	63948				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr1:53927304C>A	AJ291671	CCDS581.1	1p32	2008-08-29			ENSG00000143006	ENSG00000143006			13913	protein-coding gene	gene with protein product		614805					Standard	NM_033067		Approved		uc001cvq.1	Q96MA1	OTTHUMG00000008080	ENST00000371445.3:c.736C>A	1.37:g.53927304C>A	ENSP00000360500:p.Gln246Lys					DMRTB1_ENST00000463126.1_3'UTR	p.Q246K	NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN			2	791	+			246			Pro-rich.		Q96SD2	Missense_Mutation	SNP	ENST00000371445.3	37	c.736C>A	CCDS581.1	.	.	.	.	.	.	.	.	.	.	C	8.817	0.936642	0.18206	.	.	ENSG00000143006	ENST00000371445;ENST00000431335	T	0.28666	1.6	5.01	4.1	0.47936	.	0.920532	0.09200	N	0.834795	T	0.22399	0.0540	L	0.36672	1.1	0.09310	N	1	B	0.16396	0.017	B	0.14023	0.01	T	0.28038	-1.0056	10	0.02654	T	1	-1.1052	11.0587	0.47933	0.1848:0.8152:0.0:0.0	.	246	Q96MA1	DMRTB_HUMAN	K	246;93	ENSP00000360500:Q246K	ENSP00000360500:Q246K	Q	+	1	0	DMRTB1	53699892	0.000000	0.05858	0.087000	0.20705	0.929000	0.56500	0.382000	0.20635	1.484000	0.48361	0.655000	0.94253	CAA		0.662	DMRTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022110.1			19	20	1	0	1.01871e-10	0.00121646	5.98493e-10	19	20					A	53927304	C	A	53927304	3	1	373	1	0	0	0	0	1	0	0	0	4590	595	21	4	742	4	DMRTB1	1	53927304	Missense_Mutation	SNP	C	TCGA-ET-A39P-01A-21D-A19J-08		53927304	195323317	1	7847											
C1orf146	388649	broad.mit.edu	37	chr1	92711147	92711147	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctacagaatgataacagcTaaagcttacatcattgagca	7	8	1	3			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr1:92711147T>G	ENST00000370375.3	+	6	607	c.459T>G	c.(457-459)gcT>gcG	p.A153A	C1orf146_ENST00000370373.2_Silent_p.A94A	NM_001012425.1	NP_001012425.1	Q5VVC0	CA146_HUMAN	chromosome 1 open reading frame 146	153										breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8		all_lung(203;0.00528)|Lung NSC(277;0.0193)		all cancers(265;0.00846)|Epithelial(280;0.0952)		TGATAACAGCTAAAGCTTACA	0.328																																						ENST00000370373.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						c.(280-282)gcT>gcG		chromosome 1 open reading frame 146							81	82	82					1																	92711147		2203	4296	6499	SO:0001819	synonymous_variant	388649							g.chr1:92711147T>G		CCDS30772.1	1p22.1	2008-02-05			ENSG00000203910	ENSG00000203910			24032	protein-coding gene	gene with protein product						15496913	Standard	NM_001012425		Approved		uc001doq.3	Q5VVC0	OTTHUMG00000010285	ENST00000370375.3:c.459T>G	1.37:g.92711147T>G						C1orf146_ENST00000370375.3_Silent_p.A153A	p.A94A			Q5VVC0	CA146_HUMAN		all cancers(265;0.00846)|Epithelial(280;0.0952)	7	746	+		all_lung(203;0.00528)|Lung NSC(277;0.0193)	153					Q5VVC4	Silent	SNP	ENST00000370375.3	37	c.282T>G	CCDS30772.1																																																																																				0.328	C1orf146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028364.1	NM_001012425		23	38	0	0	0	0.00229938	0	23	38					G	92711147	T	G	92711147	2	3	373	1	0	0	0	0	0	0	0	1	2003	1509	53	5		5	C1orf146	1	92711147	Silent	SNP	T	TCGA-ET-A39P-01A-21D-A19J-08	38783843	92711147	156539474	2	7848											
ADAR	103	broad.mit.edu	37	chr1	154574423	154574423	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgagacagatgtggagtttCtgtcttccggttccaaactc	10	10	2	2			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr1:154574423C>T	ENST00000368474.4	-	2	894	c.695G>A	c.(694-696)aGa>aAa	p.R232K	ADAR_ENST00000471068.1_5'Flank|ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000292205.5_Missense_Mutation_p.R275K	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	232					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TGTGGAGTTTCTGTCTTCCGG	0.527																																						ENST00000368474.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(694-696)aGa>aAa		adenosine deaminase, RNA-specific							85	89	88					1																	154574423		2203	4300	6503	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154574423C>T	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"interferon-induced protein 4"	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.695G>A	1.37:g.154574423C>T	ENSP00000357459:p.Arg232Lys					ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000292205.5_Missense_Mutation_p.R275K	p.R232K	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	2	894	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		232					B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	c.695G>A	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	C	2.655	-0.280973	0.05642	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000529168	T;T;T	0.11277	2.79;2.8;2.82	1.96	1.96	0.26148	.	0.412136	0.17037	U	0.189462	T	0.02494	0.0076	L	0.38175	1.15	0.09310	N	1	B;B;B	0.18166	0.026;0.026;0.015	B;B;B	0.15052	0.012;0.012;0.005	T	0.43442	-0.9391	10	0.17369	T	0.5	.	9.4394	0.38659	0.0:1.0:0.0:0.0	.	232;232;232	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	K	275;232;227	ENSP00000292205:R275K;ENSP00000357459:R232K;ENSP00000431794:R227K	ENSP00000292205:R275K	R	-	2	0	ADAR	152841047	0.007000	0.16637	0.037000	0.18230	0.348000	0.29142	0.216000	0.17585	1.385000	0.46445	0.313000	0.20887	AGA		0.527	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		32	86	0	0	0	0.00209593	0	32	86					T	154574423	C	T	154574423	3	4	373	1	0	0	0	0	1	0	0	0	281	913	32	2	3041	2	ADAR	1	154574423	Missense_Mutation	SNP	C	TCGA-ET-A39P-01A-21D-A19J-08	61863276	154574423	94676198	3	7849											
EDEM3	80267	broad.mit.edu	37	chr1	184671950	184671950	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtattttactcttacctcgaTcttttgctttatcagagagg	7	8	3	1			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr1:184671950T>C	ENST00000318130.8	-	19	2650	c.2384A>G	c.(2383-2385)gAt>gGt	p.D795G	EDEM3_ENST00000466392.1_5'UTR|EDEM3_ENST00000367512.3_Missense_Mutation_p.D752G	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	795					cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTTACCTCGATCTTTTGCTTT	0.373																																						ENST00000318130.8																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(2383-2385)gAt>gGt		ER degradation enhancer, mannosidase alpha-like 3							105	95	98					1																	184671950		2203	4300	6503	SO:0001583	missense	80267				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr1:184671950T>C	AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"chromosome 1 open reading frame 22"	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.2384A>G	1.37:g.184671950T>C	ENSP00000318147:p.Asp795Gly					EDEM3_ENST00000466392.1_5'UTR|EDEM3_ENST00000367512.3_Missense_Mutation_p.D752G	p.D795G	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN			19	2650	-			795					B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Missense_Mutation	SNP	ENST00000318130.8	37	c.2384A>G	CCDS1363.2	.	.	.	.	.	.	.	.	.	.	T	16.84	3.234185	0.58886	.	.	ENSG00000116406	ENST00000318130;ENST00000367512	T;T	0.73897	-0.78;-0.79	4.89	4.89	0.63831	.	0.052949	0.64402	D	0.000001	T	0.64360	0.2591	L	0.34521	1.04	0.80722	D	1	P	0.36282	0.546	B	0.32980	0.156	T	0.68884	-0.5291	10	0.59425	D	0.04	.	14.8348	0.70175	0.0:0.0:0.0:1.0	.	795	Q9BZQ6	EDEM3_HUMAN	G	795;752	ENSP00000318147:D795G;ENSP00000356482:D752G	ENSP00000318147:D795G	D	-	2	0	EDEM3	182938573	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.178000	0.77657	1.969000	0.57287	0.533000	0.62120	GAT		0.373	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085785.3	NM_025191		16	34	0	0	0	0.00400662	0	16	34					C	184671950	T	C	184671950	3	2	373	1	0	0	0	0	1	0	0	0	4913	1435	50	3	422	3	EDEM3	1	184671950	Missense_Mutation	SNP	T	TCGA-ET-A39P-01A-21D-A19J-08	30097527	184671950	64578671	4	7850											
KRTCAP3	200634	broad.mit.edu	37	chr2	27666263	27666263	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccatccttcttgcttttcAggatacagccttggctctct	6	15	3	0			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr2:27666263A>C	ENST00000543753.1	+	5	527		c.e5-1		KRTCAP3_ENST00000288873.3_Splice_Site|KRTCAP3_ENST00000407293.1_Splice_Site	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3							integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					CTTGCTTTTCAGGATACAGCC	0.517																																						ENST00000543753.1																			0				large_intestine(1)|lung(2)	3						c.e5-1		keratinocyte associated protein 3							126	111	116					2																	27666263		2203	4300	6503	SO:0001630	splice_region_variant	200634					integral to membrane		g.chr2:27666263A>C	AY157576	CCDS1754.1	2p23.3	2008-02-05			ENSG00000157992	ENSG00000157992			28943	protein-coding gene	gene with protein product							Standard	NM_173853		Approved	KCP3	uc002rks.3	Q53RY4	OTTHUMG00000097782	ENST00000543753.1:c.481-1A>C	2.37:g.27666263A>C						KRTCAP3_ENST00000407293.1_Splice_Site|KRTCAP3_ENST00000288873.3_Splice_Site		NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN			5	527	+	Acute lymphoblastic leukemia(172;0.155)							B7ZL49|Q6UW42|Q8IWS5	Splice_Site	SNP	ENST00000543753.1	37		CCDS1754.1	.	.	.	.	.	.	.	.	.	.	A	18.95	3.731792	0.69189	.	.	ENSG00000157992	ENST00000543753;ENST00000288873;ENST00000407293	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0081	0.71527	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KRTCAP3	27519767	1.000000	0.71417	0.927000	0.36925	0.833000	0.47200	7.905000	0.87416	2.228000	0.72767	0.459000	0.35465	.		0.517	KRTCAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215025.1	NM_173853	Intron	48	74	0	0	0	0.00361006	0	48	74					C	27666263	A	C	27666263	5	2	373	1	0	0	0	0	0	0	1	0	8579	202	7	5	497	5	KRTCAP3	2	27666263	Splice_Site	SNP	A	TCGA-ET-A39P-01A-21D-A19J-08		27666263	215533110	5	7851											
TTLL3	26140	broad.mit.edu	37	chr3	9876847	9876847	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gcctctgccctttgaagtcgGaacaattcctagcacctgtc	8	14	1	1			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr3:9876847G>C	ENST00000547186.1	+	13	2209	c.1993G>C	c.(1993-1995)Gaa>Caa	p.E665Q	TTLL3_ENST00000455274.1_Intron|ARPC4-TTLL3_ENST00000397256.1_3'UTR|TTLL3_ENST00000397241.1_3'UTR|TTLL3_ENST00000430793.1_3'UTR|TTLL3_ENST00000383827.1_3'UTR|TTLL3_ENST00000426895.4_Missense_Mutation_p.E808Q	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	665					axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					TTTGAAGTCGGAACAATTCCT	0.587																																						ENST00000547186.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26						c.(1993-1995)Gaa>Caa		tubulin tyrosine ligase-like family, member 3							96	101	99					3																	9876847		2048	4199	6247	SO:0001583	missense	26140				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	g.chr3:9876847G>C		CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"Tubulin tyrosine ligase-like family"	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.1993G>C	3.37:g.9876847G>C	ENSP00000446659:p.Glu665Gln					TTLL3_ENST00000383827.1_3'UTR|TTLL3_ENST00000397241.1_3'UTR|TTLL3_ENST00000430793.1_3'UTR|ARPC4-TTLL3_ENST00000397256.1_3'UTR|TTLL3_ENST00000455274.1_Intron|TTLL3_ENST00000426895.4_Missense_Mutation_p.E808Q	p.E665Q	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN			13	2209	+	Medulloblastoma(99;0.227)		665					Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Missense_Mutation	SNP	ENST00000547186.1	37	c.1993G>C		.	.	.	.	.	.	.	.	.	.	G	6.485	0.457616	0.12342	.	.	ENSG00000214021	ENST00000426895;ENST00000547186	T;T	0.05996	3.36;3.49	3.96	3.06	0.35304	.	27.729100	0.00682	U	0.000699	T	0.06645	0.0170	N	0.22421	0.69	0.20764	N	0.999857	B	0.14438	0.01	B	0.12837	0.008	T	0.34054	-0.9844	10	0.25106	T	0.35	.	9.6199	0.39714	0.0:0.2126:0.7874:0.0	.	665	Q9Y4R7	TTLL3_HUMAN	Q	808;665	ENSP00000392549:E808Q;ENSP00000446659:E665Q	ENSP00000392549:E808Q	E	+	1	0	TTLL3	9851847	0.041000	0.20044	0.020000	0.16555	0.181000	0.23173	0.902000	0.28459	1.216000	0.43427	0.561000	0.74099	GAA		0.587	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		NM_001025930.2		16	55	0	0	0	0.00400662	0	16	55					C	9876847	G	C	9876847	3	2	373	1	0	0	0	0	1	0	0	0	16725	1175	41	4	2039	4	TTLL3	3	9876847	Missense_Mutation	SNP	G	TCGA-ET-A39P-01A-21D-A19J-08		9876847	188145583	6	7852											
ATP2B2	491	broad.mit.edu	37	chr3	10413502	10413502	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tccacacttaccagaatcttGgtggtgtaggcgctgttgat	11	9	1	2			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr3:10413502G>C	ENST00000352432.4	-	11	1719	c.1650C>G	c.(1648-1650)acC>acG	p.T550T	ATP2B2_ENST00000383800.4_Silent_p.T505T|ATP2B2_ENST00000397077.1_Silent_p.T505T|ATP2B2_ENST00000360273.2_Silent_p.T550T|ATP2B2_ENST00000343816.4_Silent_p.T536T			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	550					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CCAGAATCTTGGTGGTGTAGG	0.532																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(1513-1515)acC>acG		ATPase, Ca++ transporting, plasma membrane 2							131	112	118					3																	10413502		2203	4300	6503	SO:0001819	synonymous_variant	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10413502G>C	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1650C>G	3.37:g.10413502G>C						ATP2B2_ENST00000383800.4_Silent_p.T505T|ATP2B2_ENST00000352432.4_Silent_p.T550T|ATP2B2_ENST00000343816.4_Silent_p.T536T|ATP2B2_ENST00000360273.2_Silent_p.T550T	p.T505T			Q01814	AT2B2_HUMAN			11	2090	-			550					O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	c.1515C>G	CCDS33701.1																																																																																				0.532	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		12	31	0	0	0	0.000978159	0	12	31					C	10413502	G	C	10413502	2	2	373	1	0	0	0	0	0	0	0	1	1140	1335	47	4		4	ATP2B2	3	10413502	Silent	SNP	G	TCGA-ET-A39P-01A-21D-A19J-08	536655	10413502	187608928	7	7853											
IL7R	3575	broad.mit.edu	37	chr5	35874644	35874644	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgtgttatggaaaaaaaGgtgaccttcttcaactaata	8	6	2	1			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr5:35874644G>T	ENST00000303115.3	+	6	929	c.800G>T	c.(799-801)aGg>aTg	p.R267M	IL7R_ENST00000506850.1_Intron|IL7R_ENST00000343305.4_Intron	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	267					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TGGAAAAAAAGGTGACCTTCT	0.423			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency																															ENST00000303115.3				Dom	yes		5	5p13	146661	"Mis, O"	interleukin 7 receptor	yes	Severe combined immune deficiency	L			"ALL, ETP ALL"		0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126						c.e6+1		interleukin 7 receptor							161	143	149					5																	35874644		2203	4300	6503	SO:0001630	splice_region_variant	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35874644G>T	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.800+1G>T	5.37:g.35874644G>T						IL7R_ENST00000506850.1_Intron|IL7R_ENST00000343305.4_Intron	p.R267_splice	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		6	929	+	all_lung(31;0.00015)		267					B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Splice_Site	SNP	ENST00000303115.3	37	c.800_splice	CCDS3911.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387243	0.82902	.	.	ENSG00000168685	ENST00000303115	T	0.26373	1.74	5.97	5.97	0.96955	.	0.067296	0.56097	D	0.000025	T	0.48822	0.1521	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.41627	-0.9498	10	0.87932	D	0	-11.8377	15.9389	0.79739	0.0:0.0:1.0:0.0	.	267	P16871	IL7RA_HUMAN	M	267	ENSP00000306157:R267M	ENSP00000306157:R267M	R	+	2	0	IL7R	35910401	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.942000	0.63547	2.836000	0.97738	0.655000	0.94253	AGG		0.423	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2		Missense_Mutation	33	51	1	0	5.09552e-08	0.00209593	2.87387e-07	33	51					T	35874644	G	T	35874644	5	4	373	1	0	0	0	0	0	0	1	0	7705	1014	35	4	822	4	IL7R	5	35874644	Splice_Site	SNP	G	TCGA-ET-A39P-01A-21D-A19J-08		35874644	145040616	8	7854											
SLC35F1	222553	broad.mit.edu	37	chr6	118228990	118228992	+	In_Frame_Del	DEL	GCG	GCG	-													gaacctgccggccgagggcaGcggcggcggcgggagcctgt							TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr6:118228990_118228992delGCG	ENST00000360388.4	+	1	302_304	c.101_103delGCG	c.(100-105)agcggc>agc	p.G38del		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	38					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		GCCGAGGGCAGCGGCGGCGGCGG	0.744																																						ENST00000360388.4																			0				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(100-105)agc>a		solute carrier family 35, member F1																																				SO:0001651	inframe_deletion	222553				transport	integral to membrane		g.chr6:118228990_118228992delGCG	BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"Solute carriers"	21483	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 169"	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.101_103delGCG	6.37:g.118228999_118229001delGCG	ENSP00000353557:p.Gly38del						p.SG34del	NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	1	302_304	+			34					E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	In_Frame_Del	DEL	ENST00000360388.4	37	c.101_103delGCG	CCDS34524.1																																																																																				0.744	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044		3	4						3	4	---	---	---	---	-	118228992	GCG	-	118228990	7	5	373	1	0	1	0	1	0	0	0	0	14588	971	34	0	103	0	SLC35F1	6	118228990	In_Frame_Del	DEL	GCG	TCGA-ET-A39P-01A-21D-A19J-08		118228990	52886077	9	7855											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		23	36	0	0	0	0.00332997	0	23	36					T	140453136	A	T	140453136	3	4	373	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A39P-01A-21D-A19J-08		140453136	18685527	10	7856											
CSMD3	114788	broad.mit.edu	37	chr8	113358377	113358377	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaatctaaactgctgggatAgtttccaggaaacccaggac	10	10	1	0			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr8:113358377A>G	ENST00000297405.5	-	41	6635	c.6391T>C	c.(6391-6393)Tat>Cat	p.Y2131H	CSMD3_ENST00000455883.2_Missense_Mutation_p.Y2027H|CSMD3_ENST00000352409.3_Missense_Mutation_p.Y2061H|CSMD3_ENST00000343508.3_Missense_Mutation_p.Y2091H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2131	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.					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						CTGCTGGGATAGTTTCCAGGA	0.388										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.(6391-6393)Tat>Cat		CUB and Sushi multiple domains 3							115	116	116					8																	113358377		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113358377A>G	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.6391T>C	8.37:g.113358377A>G	ENSP00000297405:p.Tyr2131His	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.Y2091H|CSMD3_ENST00000455883.2_Missense_Mutation_p.Y2027H|CSMD3_ENST00000352409.3_Missense_Mutation_p.Y2061H	p.Y2131H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			41	6635	-			2131			CUB 12.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.6391T>C	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.714452	0.89112	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	5.54	5.54	0.83059	CUB (5);	0.000000	0.64402	D	0.000002	T	0.74749	0.3757	H	0.99642	4.675	0.54753	D	0.999982	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.85822	0.1386	10	0.51188	T	0.08	.	15.8422	0.78857	1.0:0.0:0.0:0.0	.	2027;2131;2091	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	H	2091;2131;1401;2027;2061	ENSP00000345799:Y2091H;ENSP00000297405:Y2131H;ENSP00000341558:Y1401H;ENSP00000412263:Y2027H;ENSP00000343124:Y2061H	ENSP00000297405:Y2131H	Y	-	1	0	CSMD3	113427553	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.097000	0.94193	2.323000	0.78572	0.528000	0.53228	TAT		0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		41	62	0	0	0	0.00195071	0	41	62					G	113358377	A	G	113358377	3	3	373	1	0	0	0	0	1	0	0	0	3946	420	15	3	4856	3	CSMD3	8	113358377	Missense_Mutation	SNP	A	TCGA-ET-A39P-01A-21D-A19J-08		113358377	33005645	11	7857											
ITGA8	8516	broad.mit.edu	37	chr10	15688984	15688984	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacaggtagatttgccctacTtctctggggttgctctcaaa	9	10	2	1			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr10:15688984T>C	ENST00000378076.3	-	12	1421	c.1068A>G	c.(1066-1068)gaA>gaG	p.E356E		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	356					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TTTGCCCTACTTCTCTGGGGT	0.502																																						ENST00000378076.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						c.(1066-1068)gaA>gaG		integrin, alpha 8							124	111	116					10																	15688984		2203	4300	6503	SO:0001819	synonymous_variant	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15688984T>C	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1068A>G	10.37:g.15688984T>C							p.E356E	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN			12	1421	-			356					B0YJ31|Q5VX94	Silent	SNP	ENST00000378076.3	37	c.1068A>G	CCDS31155.1																																																																																				0.502	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		8	60	0	0	0	0.00307968	0	8	60					C	15688984	T	C	15688984	2	2	373	1	0	0	0	0	0	0	0	1	7882	1606	56	3		3	ITGA8	10	15688984	Silent	SNP	T	TCGA-ET-A39P-01A-21D-A19J-08		15688984	119845763	12	7858											
OR10A7	121364	broad.mit.edu	37	chr12	55615054	55615054	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gttatggtgccaaaaatgctTgtagatctagtgtccccaag	10	8	1	1			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr12:55615054T>A	ENST00000326258.1	+	1	246	c.246T>A	c.(244-246)ctT>ctA	p.L82L		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CAAAAATGCTTGTAGATCTAG	0.413																																						ENST00000326258.1																			0				endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						c.(244-246)ctT>ctA		olfactory receptor, family 10, subfamily A, member 7							216	210	212					12																	55615054		2203	4300	6503	SO:0001819	synonymous_variant	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55615054T>A	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"GPCR / Class A : Olfactory receptors"	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.246T>A	12.37:g.55615054T>A							p.L82L	NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN			1	246	+			82					Q6IFD5|Q96R19	Silent	SNP	ENST00000326258.1	37	c.246T>A	CCDS31815.1																																																																																				0.413	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			90	123	0	0	0	0.00361006	0	90	123					A	55615054	T	A	55615054	2	1	373	1	0	0	0	0	0	0	0	1	10895	1799	63	5		5	OR10A7	12	55615054	Silent	SNP	T	TCGA-ET-A39P-01A-21D-A19J-08		55615054	78236841	13	7859											
SLC35E3	55508	broad.mit.edu	37	chr12	69140181	69140181	+	Silent	SNP	G	G	T													gcattgctggtggaccgagtGcggggccactggcgaatcgc							TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr12:69140181G>T	ENST00000398004.2	+	1	296	c.24G>T	c.(22-24)gtG>gtT	p.V8V		NM_018656.2	NP_061126.2	Q7Z769	S35E3_HUMAN	solute carrier family 35, member E3	8						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			TGGACCGAGTGCGGGGCCACT	0.632																																						ENST00000398004.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						c.(22-24)gtG>gtT		solute carrier family 35, member E3							31	34	33					12																	69140181		1963	4143	6106	SO:0001819	synonymous_variant	55508					integral to membrane		g.chr12:69140181G>T	AF148713, AY358943	CCDS41808.1	12q15	2014-09-04			ENSG00000175782	ENSG00000175782		"Solute carriers"	20864	protein-coding gene	gene with protein product						12975309	Standard	XM_005269006		Approved	BLOV1	uc001suh.3	Q7Z769	OTTHUMG00000169282	ENST00000398004.2:c.24G>T	12.37:g.69140181G>T							p.V8V	NM_018656.2	NP_061126.2	Q7Z769	S35E3_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)		1	296	+	Breast(13;2.31e-06)|Renal(347;0.0684)		8					A8K0T0|Q0P5Y5|Q9P0V1	Silent	SNP	ENST00000398004.2	37	c.24G>T	CCDS41808.1																																																																																				0.632	SLC35E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403241.1	NM_018656		13	12	1	0	1.49906e-05	0.00244969	7.54883e-05	13	12					T	69140181	G	T	69140181	2	4	373	1	0	0	0	0	0	0	0	1	14586	1306	46	4		4	SLC35E3	12	69140181	Silent	SNP	G	TCGA-ET-A39P-01A-21D-A19J-08	13525127	69140181	64711714	14	7860	46	2									
SLC35E3	55508	broad.mit.edu	37	chr12	69140182	69140182	+	Missense_Mutation	SNP	C	C	T													cattgctggtggaccgagtgCggggccactggcgaatcgcc							TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr12:69140182C>T	ENST00000398004.2	+	1	297	c.25C>T	c.(25-27)Cgg>Tgg	p.R9W		NM_018656.2	NP_061126.2	Q7Z769	S35E3_HUMAN	solute carrier family 35, member E3	9						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			GGACCGAGTGCGGGGCCACTG	0.632																																						ENST00000398004.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						c.(25-27)Cgg>Tgg		solute carrier family 35, member E3							31	34	33					12																	69140182		1962	4142	6104	SO:0001583	missense	55508					integral to membrane		g.chr12:69140182C>T	AF148713, AY358943	CCDS41808.1	12q15	2014-09-04			ENSG00000175782	ENSG00000175782		"Solute carriers"	20864	protein-coding gene	gene with protein product						12975309	Standard	XM_005269006		Approved	BLOV1	uc001suh.3	Q7Z769	OTTHUMG00000169282	ENST00000398004.2:c.25C>T	12.37:g.69140182C>T	ENSP00000381089:p.Arg9Trp						p.R9W	NM_018656.2	NP_061126.2	Q7Z769	S35E3_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)		1	297	+	Breast(13;2.31e-06)|Renal(347;0.0684)		9					A8K0T0|Q0P5Y5|Q9P0V1	Missense_Mutation	SNP	ENST00000398004.2	37	c.25C>T	CCDS41808.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267754	0.40095	.	.	ENSG00000175782	ENST00000398004	T	0.57595	0.39	4.88	0.694	0.18062	.	0.382752	0.26463	N	0.024223	T	0.36082	0.0954	L	0.36672	1.1	0.09310	N	1	P	0.35774	0.519	B	0.33799	0.17	T	0.15464	-1.0436	9	.	.	.	2.1755	8.6378	0.33959	0.3865:0.5442:0.0:0.0693	.	9	Q7Z769	S35E3_HUMAN	W	9	ENSP00000381089:R9W	.	R	+	1	2	SLC35E3	67426449	0.634000	0.27190	0.003000	0.11579	0.016000	0.09150	0.564000	0.23563	-0.079000	0.12707	-0.293000	0.09583	CGG		0.632	SLC35E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403241.1	NM_018656		13	12	0	0	0	0.00244969	0	13	12					T	69140182	C	T	69140182	3	4	373	1	0	0	0	0	1	0	0	0	14586	759	27	1	27	1	SLC35E3	12	69140182	Missense_Mutation	SNP	C	TCGA-ET-A39P-01A-21D-A19J-08	1	69140182	64711713	15	7861	46	2									
DYNC1H1	1778	broad.mit.edu	37	chr14	102471238	102471238	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agttgagatttttggtaaagCaacttcaattgacccaaata	7	6	1	2			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr14:102471238C>A	ENST00000360184.4	+	25	5353	c.5189C>A	c.(5188-5190)gCa>gAa	p.A1730E		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1730	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTTGGTAAAGCAACTTCAATT	0.418																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(5188-5190)gCa>gAa		dynein, cytoplasmic 1, heavy chain 1							96	90	92					14																	102471238		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102471238C>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.5189C>A	14.37:g.102471238C>A	ENSP00000348965:p.Ala1730Glu						p.A1730E	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			25	5353	+			1730			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.5189C>A	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.881999	0.33255	.	.	ENSG00000197102	ENST00000360184	T	0.29655	1.56	5.85	5.85	0.93711	.	0.048570	0.85682	D	0.000000	T	0.18087	0.0434	N	0.08118	0	0.48185	D	0.999605	B	0.02656	0.0	B	0.04013	0.001	T	0.13308	-1.0514	10	0.07990	T	0.79	.	20.1708	0.98159	0.0:1.0:0.0:0.0	.	1730	Q14204	DYHC1_HUMAN	E	1730	ENSP00000348965:A1730E	ENSP00000348965:A1730E	A	+	2	0	DYNC1H1	101540991	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	4.106000	0.57804	2.761000	0.94854	0.655000	0.94253	GCA		0.418	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		27	35	1	0	1.32003e-05	0.000878237	6.89349e-05	27	35					A	102471238	C	A	102471238	3	1	373	1	0	0	0	0	1	0	0	0	4841	710	25	4	5287	4	DYNC1H1	14	102471238	Missense_Mutation	SNP	C	TCGA-ET-A39P-01A-21D-A19J-08		102471238	4878302	16	7862											
ZNF668	79759	broad.mit.edu	37	chr16	31072858	31072858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcacaccacctgactccGggggcagccctagcagccct	9	19	1	1			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr16:31072858G>A	ENST00000538906.1	-	3	2175	c.1391C>T	c.(1390-1392)cCg>cTg	p.P464L	ZNF668_ENST00000426488.2_Missense_Mutation_p.P487L|ZNF668_ENST00000535577.1_Missense_Mutation_p.P464L|ZNF668_ENST00000539836.3_Missense_Mutation_p.P487L|ZNF668_ENST00000417110.2_Missense_Mutation_p.G16R|ZNF668_ENST00000394983.2_Missense_Mutation_p.P464L|ZNF668_ENST00000300849.4_Missense_Mutation_p.P464L	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	464					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						ACCTGACTCCGGGGGCAGCCC	0.697																																					Colon(181;1111 1980 5060 10512 25785)	ENST00000538906.1																			0				breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(1390-1392)cCg>cTg		zinc finger protein 668							59	64	62					16																	31072858		2197	4300	6497	SO:0001583	missense	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31072858G>A		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"Zinc fingers, C2H2-type"	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1391C>T	16.37:g.31072858G>A	ENSP00000440149:p.Pro464Leu					ZNF668_ENST00000300849.4_Missense_Mutation_p.P464L|ZNF668_ENST00000535577.1_Missense_Mutation_p.P464L|ZNF668_ENST00000539836.3_Missense_Mutation_p.P487L|ZNF668_ENST00000417110.2_Missense_Mutation_p.G16R|ZNF668_ENST00000426488.2_Missense_Mutation_p.P487L|ZNF668_ENST00000394983.2_Missense_Mutation_p.P464L	p.P464L	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN			3	2175	-			464					C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	37	c.1391C>T	CCDS10701.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.057|9.057	0.993635|0.993635	0.19043|0.19043	.|.	.|.	ENSG00000232748|ENSG00000167394	ENST00000417110|ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	.|T;T;T;T;T	.|0.07688	.|3.17;3.18;3.18;3.18;3.18	4.81|4.81	4.81|4.81	0.61882|0.61882	.|.	.|0.352102	.|0.26963	.|N	.|0.021608	T|T	0.04452|0.04452	0.0122|0.0122	N|N	0.08118|0.08118	0|0	0.25494|0.25494	N|N	0.987613|0.987613	.|B	.|0.18610	.|0.029	.|B	.|0.06405	.|0.002	T|T	0.29243|0.29243	-1.0018|-1.0018	6|10	0.87932|0.46703	D|T	0|0.11	-9.9906|-9.9906	8.9193|8.9193	0.35601|0.35601	0.0986:0.0:0.9014:0.0|0.0986:0.0:0.9014:0.0	.|.	.|464	.|Q96K58	.|ZN668_HUMAN	R|L	16|487;464;464;464;464	.|ENSP00000442573:P487L;ENSP00000441349:P464L;ENSP00000440149:P464L;ENSP00000378434:P464L;ENSP00000300849:P464L	ENSP00000391989:G16R|ENSP00000300849:P464L	G|P	+|-	1|2	0|0	AC135050.1|ZNF668	30980359|30980359	0.702000|0.702000	0.27816|0.27816	0.497000|0.497000	0.27552|0.27552	0.971000|0.971000	0.66376|0.66376	3.598000|3.598000	0.54038|0.54038	2.523000|2.523000	0.85059|0.85059	0.561000|0.561000	0.74099|0.74099	GGG|CCG		0.697	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		31	65	0	0	0	0.00375469	0	31	65					A	31072858	G	A	31072858	3	1	373	1	0	0	0	0	1	0	0	0	18072	1116	39	1	472	1	ZNF668	16	31072858	Missense_Mutation	SNP	G	TCGA-ET-A39P-01A-21D-A19J-08		31072858	59281895	17	7863											
TRO	7216	broad.mit.edu	37	chrX	54955736	54955736	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcaccacggctggctttaGtggtgtactcagcactagca	11	12	1	0			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chrX:54955736G>T	ENST00000173898.7	+	12	2691	c.2579G>T	c.(2578-2580)aGt>aTt	p.S860I	TRO_ENST00000420798.2_Missense_Mutation_p.S391I|TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Intron|TRO_ENST00000319167.8_Intron|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000375041.2_Missense_Mutation_p.S463I	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	860	62 X 10 AA approximate tandem repeats.				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						GCTGGCTTTAGTGGTGTACTC	0.562																																						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.(2578-2580)aGt>aTt		trophinin							43	39	41					X																	54955736		2157	4236	6393	SO:0001583	missense	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54955736G>T	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.2579G>T	X.37:g.54955736G>T	ENSP00000173898:p.Ser860Ile					TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.S463I|TRO_ENST00000420798.2_Missense_Mutation_p.S391I|TRO_ENST00000319167.8_Intron|TRO_ENST00000375022.4_Intron	p.S860I	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN			12	2691	+			860			62 X 10 AA approximate tandem repeats.		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	c.2579G>T	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.432499	0.25813	.	.	ENSG00000067445	ENST00000173898;ENST00000420798;ENST00000375041	T;T;T	0.33216	1.73;1.42;1.73	2.84	1.97	0.26223	.	.	.	.	.	T	0.24624	0.0597	L	0.39898	1.24	0.21105	N	0.999785	P;P	0.45348	0.61;0.856	B;B	0.41271	0.159;0.352	T	0.10382	-1.0632	9	0.72032	D	0.01	.	7.4063	0.26993	0.144:0.0:0.856:0.0	.	463;860	B1AKE9;Q12816	.;TROP_HUMAN	I	860;391;463	ENSP00000173898:S860I;ENSP00000405126:S391I;ENSP00000364181:S463I	ENSP00000173898:S860I	S	+	2	0	TRO	54972461	0.047000	0.20315	0.024000	0.17045	0.231000	0.25187	1.662000	0.37418	0.596000	0.29794	0.556000	0.70494	AGT		0.562	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		15	24	1	0	3.52763e-06	0.000566183	1.91306e-05	15	24					T	54955736	G	T	54955736	3	4	373	1	0	0	0	0	1	0	0	0	16571	1029	36	4	2621	4	TRO	23	54955736	Missense_Mutation	SNP	G	TCGA-ET-A39P-01A-21D-A19J-08		54955736	100314824	18	7864											
FOXR2	139628	broad.mit.edu	37	chrX	55650232	55650232	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actgggacatgaggaatgagTtatttctgccttgtaccaca	10	8	1	2			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chrX:55650232T>A	ENST00000339140.3	+	1	400	c.88T>A	c.(88-90)Tta>Ata	p.L30I		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	30					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						GAGGAATGAGTTATTTCTGCC	0.468																																						ENST00000339140.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(88-90)Tta>Ata		forkhead box R2							100	90	93					X																	55650232		2203	4300	6503	SO:0001583	missense	139628				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue 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 activator activity|transcription factor binding	g.chrX:55650232T>A	BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"Forkhead boxes"	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.88T>A	X.37:g.55650232T>A	ENSP00000427329:p.Leu30Ile						p.L30I	NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN			1	400	+			30						Missense_Mutation	SNP	ENST00000339140.3	37	c.88T>A	CCDS35308.1	.	.	.	.	.	.	.	.	.	.	T	8.141	0.785188	0.16189	.	.	ENSG00000189299	ENST00000339140	D	0.94897	-3.55	4.2	0.314	0.15847	.	2.136140	0.02246	U	0.066213	D	0.86760	0.6010	N	0.17474	0.49	0.23585	N	0.997355	B	0.22276	0.067	B	0.17098	0.017	T	0.75542	-0.3281	10	0.23302	T	0.38	.	0.6309	0.00794	0.2123:0.1218:0.2155:0.4504	.	30	Q6PJQ5	FOXR2_HUMAN	I	30	ENSP00000427329:L30I	ENSP00000427329:L30I	L	+	1	2	FOXR2	55666957	0.998000	0.40836	0.003000	0.11579	0.171000	0.22731	0.560000	0.23500	0.113000	0.18004	0.486000	0.48141	TTA		0.468	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451		27	56	0	0	0	0.00209593	0	27	56					A	55650232	T	A	55650232	3	1	373	1	0	0	0	0	1	0	0	0	6032	1722	60	5	90	5	FOXR2	23	55650232	Missense_Mutation	SNP	T	TCGA-ET-A39P-01A-21D-A19J-08	694496	55650232	99620328	19	7865											
AHDC1	27245	broad.mit.edu	37	chr1	27877329	27877331	+	In_Frame_Del	DEL	GGT	GGT	-													gggcagggggtggaggaggcGgtggtggtgggggttcggcc							TCGA-ET-A39R-01A-11D-A19J-08	TCGA-ET-A39R-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc29bed0-8ced-477b-8b69-3db24426a0b9	ec696761-1a5e-4925-b59b-e3e9d42edc7d	g.chr1:27877329_27877331delGGT	ENST00000247087.5	-	5	1892_1894	c.1296_1298delACC	c.(1294-1299)ccaccg>ccg	p.432_433PP>P	AHDC1_ENST00000374011.2_In_Frame_Del_p.432_433PP>P			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	432	Pro-rich.						DNA binding (GO:0003677)			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)		TGGAGGAGGCGGTGGTGGTGGGG	0.714																																						ENST00000374011.2																			0				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.(1294-1299)ccg>cc		AT hook, DNA binding motif, containing 1																																				SO:0001651	inframe_deletion	27245						DNA binding	g.chr1:27877329_27877331delGGT	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.1296_1298delACC	1.37:g.27877335_27877337delGGT	ENSP00000247087:p.Pro438del					AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_In_Frame_Del_p.PP436del	p.PP436del	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	2264_2266	-		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)	436			Pro-rich.		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	In_Frame_Del	DEL	ENST00000247087.5	37	c.1296_1298delACC	CCDS30652.1																																																																																				0.714	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			2	4						2	4	---	---	---	---	-	27877331	GGT	-	27877329	7	5	374	1	0	1	0	1	0	0	0	0	412	1116	39	0	3517	0	AHDC1	1	27877329	In_Frame_Del	DEL	GGT	TCGA-ET-A39R-01A-11D-A19J-08		27877329	221373292	1	7866											
IRS1	3667	broad.mit.edu	37	chr2	227663266	227663266	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aagcagctctcaagggggatCgagcgtttgggggcgctcga	17	9	1	0			TCGA-ET-A39R-01A-11D-A19J-08	TCGA-ET-A39R-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc29bed0-8ced-477b-8b69-3db24426a0b9	ec696761-1a5e-4925-b59b-e3e9d42edc7d	g.chr2:227663266C>A	ENST00000305123.5	-	1	1209	c.189G>T	c.(187-189)tcG>tcT	p.S63S	RP11-395N3.2_ENST00000607970.1_lincRNA	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	63	Mediates interaction with PHIP. {ECO:0000250}.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CAAGGGGGATCGAGCGTTTGG	0.637																																						ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(187-189)tcG>tcT		insulin receptor substrate 1							85	104	97					2																	227663266		2203	4300	6503	SO:0001819	synonymous_variant	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227663266C>A		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.189G>T	2.37:g.227663266C>A							p.S63S	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	1209	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	63			Mediates interaction with PHIP (By similarity).|PH.			Silent	SNP	ENST00000305123.5	37	c.189G>T	CCDS2463.1																																																																																				0.637	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		21	148	1	0	3.62473e-10	0.00188189	1.61136e-08	21	148					A	227663266	C	A	227663266	2	1	374	1	0	0	0	0	0	0	0	1	7840	871	31	4		4	IRS1	2	227663266	Silent	SNP	C	TCGA-ET-A39R-01A-11D-A19J-08		227663266	15536107	2	7867											
ZNF777	27153	broad.mit.edu	37	chr7	149129472	149129472	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cttgtagggcttagggccacCgccgccgctaccagagctgg	14	14	0	1			TCGA-ET-A39R-01A-11D-A19J-08	TCGA-ET-A39R-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc29bed0-8ced-477b-8b69-3db24426a0b9	ec696761-1a5e-4925-b59b-e3e9d42edc7d	g.chr7:149129472C>G	ENST00000247930.4	-	6	2214	c.1891G>C	c.(1891-1893)Ggt>Cgt	p.G631R		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	631	Poly-Gly.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TTAGGGCCACCGCCGCCGCTA	0.667																																						ENST00000247930.4																			0				large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(1891-1893)Ggt>Cgt		zinc finger protein 777							73	90	84					7																	149129472		2149	4252	6401	SO:0001583	missense	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149129472C>G	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"Zinc fingers, C2H2-type", "-"	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.1891G>C	7.37:g.149129472C>G	ENSP00000247930:p.Gly631Arg						p.G631R	NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		6	2214	-	Melanoma(164;0.165)		631			Poly-Gly.		Q8N2R2|Q8N659	Missense_Mutation	SNP	ENST00000247930.4	37	c.1891G>C	CCDS43675.1	.	.	.	.	.	.	.	.	.	.	C	8.571	0.880102	0.17467	.	.	ENSG00000196453	ENST00000247930;ENST00000314683	T	0.05447	3.44	4.7	2.87	0.33458	.	0.452476	0.18702	N	0.133544	T	0.07143	0.0181	N	0.04880	-0.145	0.23381	N	0.997792	D	0.63046	0.992	P	0.57620	0.824	T	0.31110	-0.9955	10	0.59425	D	0.04	-15.6726	10.1886	0.43013	0.0:0.8164:0.0:0.1836	.	631	Q9ULD5-2	.	R	631;374	ENSP00000247930:G631R	ENSP00000247930:G631R	G	-	1	0	ZNF777	148760405	0.061000	0.20836	0.855000	0.33649	0.025000	0.11179	1.199000	0.32235	0.090000	0.17273	-1.842000	0.00583	GGT		0.667	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		32	106	0	0	0	0.000491102	0	32	106					G	149129472	C	G	149129472	3	3	374	1	0	0	0	0	1	0	0	0	18147	652	23	4	608	4	ZNF777	7	149129472	Missense_Mutation	SNP	C	TCGA-ET-A39R-01A-11D-A19J-08		149129472	10009191	3	7868											
OC90	729330	broad.mit.edu	37	chr8	133053841	133053841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaccatagtcttcaaagtctCgggggcagagaccagccaca	10	12	3	1	rs372434452		TCGA-ET-A39R-01A-11D-A19J-08	TCGA-ET-A39R-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc29bed0-8ced-477b-8b69-3db24426a0b9	ec696761-1a5e-4925-b59b-e3e9d42edc7d	g.chr8:133053841C>T	ENST00000443356.2	-	5	361	c.275G>A	c.(274-276)cGa>cAa	p.R92Q	OC90_ENST00000262283.5_Missense_Mutation_p.R288Q|OC90_ENST00000254627.3_Missense_Mutation_p.R92Q|OC90_ENST00000603859.1_Missense_Mutation_p.R92Q			Q02509	OC90_HUMAN	otoconin 90	92	Phospholipase A2-like 1.				lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TTCAAAGTCTCGGGGGCAGAG	0.527																																						ENST00000262283.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37						c.(862-864)cGa>cAa		otoconin 90		C	GLN/ARG	1,3995		0,1,1997	46	47	47		275	4.9	1.0	8		47	0,8330		0,0,4165	no	missense	OC90	NM_001080399.2	43	0,1,6162	TT,TC,CC		0.0,0.025,0.0081	probably-damaging	92/478	133053841	1,12325	1998	4165	6163	SO:0001583	missense	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133053841C>T	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.275G>A	8.37:g.133053841C>T	ENSP00000390050:p.Arg92Gln					OC90_ENST00000254627.3_Missense_Mutation_p.R92Q|OC90_ENST00000603859.1_Missense_Mutation_p.R92Q|OC90_ENST00000443356.2_Missense_Mutation_p.R92Q	p.R288Q			Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		8	962	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		92					B4DNG8	Missense_Mutation	SNP	ENST00000443356.2	37	c.863G>A		.	.	.	.	.	.	.	.	.	.	C	23.0	4.367936	0.82463	2.5E-4	0.0	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.26373	1.74;1.74;1.74	5.88	4.9	0.64082	Phospholipase A2 (3);	0.204155	0.39909	N	0.001230	T	0.44644	0.1303	M	0.68952	2.095	0.30403	N	0.779799	D;D	0.89917	1.0;1.0	D;D	0.72982	0.965;0.979	T	0.40098	-0.9581	10	0.38643	T	0.18	-24.1919	10.1278	0.42661	0.0:0.8788:0.0:0.1212	.	92;92	Q02509-2;Q02509	.;OC90_HUMAN	Q	92;92;288	ENSP00000254627:R92Q;ENSP00000390050:R92Q;ENSP00000262283:R288Q	ENSP00000254627:R92Q	R	-	2	0	RP11-240B13.2;OC90	133123023	0.991000	0.36638	0.998000	0.56505	0.991000	0.79684	2.905000	0.48727	2.790000	0.95986	0.591000	0.81541	CGA		0.527	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		7	13	0	0	0	0.000157383	0	7	13					T	133053841	C	T	133053841	3	4	374	1	0	0	0	0	1	0	0	0	10814	884	31	1	1198	1	OC90	8	133053841	Missense_Mutation	SNP	C	TCGA-ET-A39R-01A-11D-A19J-08		133053841	13310181	4	7869											
COL5A3	50509	broad.mit.edu	37	chr19	10116500	10116500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgaggttgacctgctgggGgagggggcggaaggggtcac	22	6	1	2			TCGA-ET-A39R-01A-11D-A19J-08	TCGA-ET-A39R-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc29bed0-8ced-477b-8b69-3db24426a0b9	ec696761-1a5e-4925-b59b-e3e9d42edc7d	g.chr19:10116500G>A	ENST00000264828.3	-	3	494	c.409C>T	c.(409-411)Ccc>Tcc	p.P137S		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	137	Laminin G-like.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			ACCTGCTGGGGGAGGGGGCGG	0.657																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(409-411)Ccc>Tcc		collagen, type V, alpha 3							18	20	20					19																	10116500		2182	4278	6460	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10116500G>A	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.409C>T	19.37:g.10116500G>A	ENSP00000264828:p.Pro137Ser						p.P137S	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		3	494	-			137			TSP N-terminal.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.409C>T	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.146488	0.37923	.	.	ENSG00000080573	ENST00000264828	T	0.02050	4.48	4.02	4.02	0.46733	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.151679	0.45867	D	0.000332	T	0.03136	0.0092	N	0.15975	0.35	0.30321	N	0.787564	D	0.65815	0.995	P	0.57911	0.829	T	0.47058	-0.9146	10	0.13470	T	0.59	.	11.5368	0.50641	0.0:0.0:1.0:0.0	.	137	P25940	CO5A3_HUMAN	S	137	ENSP00000264828:P137S	ENSP00000264828:P137S	P	-	1	0	COL5A3	9977500	0.999000	0.42202	0.951000	0.38953	0.929000	0.56500	3.466000	0.53071	2.096000	0.63516	0.462000	0.41574	CCC		0.657	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		7	9	0	0	0	8.12818e-05	0	7	9					A	10116500	G	A	10116500	3	1	374	1	0	0	0	0	1	0	0	0	3698	1232	43	2	5088	2	COL5A3	19	10116500	Missense_Mutation	SNP	G	TCGA-ET-A39R-01A-11D-A19J-08		10116500	49012483	5	7870											
HAUS7	55559	broad.mit.edu	37	chrX	152734614	152734614	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgcattaccgggtacacaTccactctaggatctccaagc	8	13	2	0			TCGA-ET-A39R-01A-11D-A19J-08	TCGA-ET-A39R-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc29bed0-8ced-477b-8b69-3db24426a0b9	ec696761-1a5e-4925-b59b-e3e9d42edc7d	g.chrX:152734614T>C	ENST00000370211.4	-	2	287	c.244A>G	c.(244-246)Atg>Gtg	p.M82V	HAUS7_ENST00000421080.2_5'UTR|TREX2_ENST00000334497.2_5'UTR|TREX2_ENST00000370232.1_5'UTR|TREX2_ENST00000338525.2_5'UTR|HAUS7_ENST00000370210.1_Missense_Mutation_p.M72V|HAUS7_ENST00000370212.3_Missense_Mutation_p.M82V|TREX2_ENST00000330912.2_5'UTR	NM_017518.7	NP_059988.3	Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	82					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	thioesterase binding (GO:0031996)			endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						CGGGTACACATCCACTCTAGG	0.552																																						ENST00000370219.3																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						c.(244-246)Atg>Gtg		HAUS augmin-like complex, subunit 7							210	178	189					X																	152734614		2203	4300	6503	SO:0001583	missense	55559				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding	g.chrX:152734614T>C	AF267739	CCDS35438.1	Xq28	2011-10-24	2009-04-20	2009-04-20		ENSG00000213397		"HAUS augmin-like complex subunits"	32979	protein-coding gene	gene with protein product	"UCH37 interacting protein 1", "26S proteasome-associated UCH interacting protein 1"	300540	"UCHL5 interacting protein"	UCHL5IP		11163772, 16395595, 19427217	Standard	NM_017518		Approved	UIP1	uc004fho.2	Q99871		ENST00000370211.4:c.244A>G	X.37:g.152734614T>C	ENSP00000359230:p.Met82Val					TREX2_ENST00000338525.2_5'UTR|HAUS7_ENST00000370210.1_Missense_Mutation_p.M72V|TREX2_ENST00000330912.2_5'UTR|TREX2_ENST00000334497.2_5'UTR|HAUS7_ENST00000421080.2_5'UTR|TREX2_ENST00000370232.1_5'UTR|HAUS7_ENST00000370212.3_Missense_Mutation_p.M82V|HAUS7_ENST00000370211.4_Missense_Mutation_p.M72V	p.M82V	NM_017518.6	NP_059988.3	Q99871	HAUS7_HUMAN			2	801	-			82					B4DUH6|D3DWT9|Q96HS8|Q9NP54|Q9UFH9	Missense_Mutation	SNP	ENST00000370211.4	37	c.244A>G	CCDS35438.1	.	.	.	.	.	.	.	.	.	.	T	12.13	1.846738	0.32606	.	.	ENSG00000213397	ENST00000370211;ENST00000370219;ENST00000370212;ENST00000453918;ENST00000370210	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	4.76	0.461	0.16689	.	0.279979	0.37178	N	0.002205	T	0.18509	0.0444	L	0.54323	1.7	0.80722	D	1	B;B	0.30146	0.102;0.27	B;B	0.24701	0.049;0.055	T	0.05037	-1.0910	10	0.62326	D	0.03	-9.8769	3.9402	0.09323	0.4121:0.0:0.1829:0.405	.	82;82	Q99871;Q99871-2	HAUS7_HUMAN;.	V	72;82;82;141;72	ENSP00000359230:M72V;ENSP00000359239:M82V;ENSP00000359231:M82V;ENSP00000359229:M72V	ENSP00000359229:M72V	M	-	1	0	HAUS7	152387808	0.989000	0.36119	0.934000	0.37439	0.926000	0.56050	0.025000	0.13577	0.151000	0.19162	0.486000	0.48141	ATG		0.552	HAUS7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060963.2	NM_017518		41	77	0	0	0	0.000781405	0	41	77					C	152734614	T	C	152734614	3	2	374	1	0	0	0	0	1	0	0	0	6971	1435	50	3	898	3	HAUS7	23	152734614	Missense_Mutation	SNP	T	TCGA-ET-A39R-01A-11D-A19J-08		152734614	2535946	6	7871											
PPCS	79717	broad.mit.edu	37	chr1	42922269	42922269	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatccggtagccgagttcccCcagcctcccggtgctgcgcg	13	17	0	0	rs567354934		TCGA-ET-A39S-01A-11D-A19J-08	TCGA-ET-A39S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4715aaf8-bfde-4f8c-9099-6b87ed6f3fba	1330fdd2-5fa2-4f99-b8ed-a9b278650139	g.chr1:42922269C>T	ENST00000372561.3	+	1	40	c.33C>T	c.(31-33)ccC>ccT	p.P11P	PPCS_ENST00000372562.1_Intron|ZMYND12_ENST00000433602.2_5'Flank|PPCS_ENST00000472013.1_3'UTR|PPCS_ENST00000455780.1_5'UTR|PPCS_ENST00000372556.3_Silent_p.P11P|PPCS_ENST00000372560.3_Silent_p.P11P|ZMYND12_ENST00000372565.3_5'Flank	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase	11					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	phosphopantothenate--cysteine ligase activity (GO:0004632)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCGAGTTCCCCCAGCCTCCCG	0.726													C|||	1	0.000199681	0	0	5008	,	,		15175	0		0.001	False		,,,				2504	0					ENST00000372561.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(31-33)ccC>ccT		phosphopantothenoylcysteine synthetase							8	10	10					1																	42922269		1836	3999	5835	SO:0001819	synonymous_variant	79717				coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity	g.chr1:42922269C>T	AK021900	CCDS41311.1, CCDS41312.1	1p34.2	2008-02-05			ENSG00000127125	ENSG00000127125	6.3.2.5		25686	protein-coding gene	gene with protein product		609853				11923312	Standard	NM_024664		Approved	FLJ11838	uc001chl.3	Q9HAB8	OTTHUMG00000007332	ENST00000372561.3:c.33C>T	1.37:g.42922269C>T						PPCS_ENST00000372562.1_Intron|PPCS_ENST00000472013.1_3'UTR|PPCS_ENST00000455780.1_5'UTR|PPCS_ENST00000372556.3_Silent_p.P11P|PPCS_ENST00000372560.3_Silent_p.P11P	p.P11P	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN			1	40	+	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	11					Q3KQT2|Q5VVM0	Silent	SNP	ENST00000372561.3	37	c.33C>T	CCDS41311.1																																																																																				0.726	PPCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019166.1	NM_024664		3	17	0	0	0	0.000248	0	3	17					T	42922269	C	T	42922269	2	4	375	1	0	0	0	0	0	0	0	1	12305	610	22	2		2	PPCS	1	42922269	Silent	SNP	C	TCGA-ET-A39S-01A-11D-A19J-08		42922269	206328352	1	7872											
MARS2	92935	broad.mit.edu	37	chr2	198571775	198571775	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgcctcagagaggagtcttgGagagctctatttcttgcctc	11	10	4	2			TCGA-ET-A39S-01A-11D-A19J-08	TCGA-ET-A39S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4715aaf8-bfde-4f8c-9099-6b87ed6f3fba	1330fdd2-5fa2-4f99-b8ed-a9b278650139	g.chr2:198571775G>T	ENST00000282276.6	+	1	1689	c.1646G>T	c.(1645-1647)gGa>gTa	p.G549V	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	549					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	AGGAGTCTTGGAGAGCTCTAT	0.532																																						ENST00000282276.6																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1645-1647)gGa>gTa		methionyl-tRNA synthetase 2, mitochondrial	L-Methionine(DB00134)						115	116	115					2																	198571775		2203	4300	6503	SO:0001583	missense	92935				methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity	g.chr2:198571775G>T	BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"Aminoacyl tRNA synthetases / Class I"	25133	protein-coding gene	gene with protein product	"methionine tRNA ligase 2, mitochondrial"	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.1646G>T	2.37:g.198571775G>T	ENSP00000282276:p.Gly549Val					AC011997.1_ENST00000409845.1_Intron	p.G549V	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN			1	1689	+			549					A0AVC3|Q76E79|Q8IW62|Q8N7N4	Missense_Mutation	SNP	ENST00000282276.6	37	c.1646G>T	CCDS33358.1	.	.	.	.	.	.	.	.	.	.	G	4.412	0.076243	0.08485	.	.	ENSG00000247626	ENST00000282276;ENST00000499940	T	0.43294	0.95	4.83	0.711	0.18162	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	1.046820	0.07466	N	0.901396	T	0.25568	0.0622	N	0.17082	0.46	0.19575	N	0.999969	B	0.06786	0.001	B	0.06405	0.002	T	0.23440	-1.0188	10	0.34782	T	0.22	0.0597	6.4666	0.21985	0.1699:0.4433:0.3869:0.0	.	549	Q96GW9	SYMM_HUMAN	V	549;476	ENSP00000282276:G549V	ENSP00000282276:G549V	G	+	2	0	MARS2	198280020	0.000000	0.05858	0.986000	0.45419	0.581000	0.36288	-0.139000	0.10358	0.235000	0.21160	-0.172000	0.13284	GGA		0.532	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335477.1	NM_138395		48	148	1	0	4.29476e-34	0.00361	5.63687e-34	48	148					T	198571775	G	T	198571775	3	4	375	1	0	0	0	0	1	0	0	0	9317	1174	41	4	1648	4	MARS2	2	198571775	Missense_Mutation	SNP	G	TCGA-ET-A39S-01A-11D-A19J-08		198571775	44627598	2	7873											
DNAH1	25981	broad.mit.edu	37	chr3	52356519	52356519	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccctcagggcccagagtgcAgcagtgctcctgcagtccaa	11	16	1	1			TCGA-ET-A39S-01A-11D-A19J-08	TCGA-ET-A39S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4715aaf8-bfde-4f8c-9099-6b87ed6f3fba	1330fdd2-5fa2-4f99-b8ed-a9b278650139	g.chr3:52356519A>G	ENST00000420323.2	+	2	322	c.61A>G	c.(61-63)Agc>Ggc	p.S21G		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	21	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCCAGAGTGCAGCAGTGCTCC	0.582																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(61-63)Agc>Ggc		dynein, axonemal, heavy chain 1							39	43	42					3																	52356519		1905	4119	6024	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52356519A>G	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.61A>G	3.37:g.52356519A>G	ENSP00000401514:p.Ser21Gly						p.S21G	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	2	322	+			21			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.61A>G	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	A	10.44	1.351844	0.24512	.	.	ENSG00000114841	ENST00000420323	T	0.28069	1.63	3.06	3.06	0.35304	.	4.836440	0.00357	N	0.000021	T	0.28001	0.0690	L	0.36672	1.1	0.09310	N	0.999998	B;B	0.25272	0.018;0.122	B;B	0.27608	0.011;0.081	T	0.18745	-1.0327	10	0.21540	T	0.41	.	7.9425	0.29967	1.0:0.0:0.0:0.0	.	21;21	C9JXH6;Q9P2D7-3	.;.	G	21	ENSP00000401514:S21G	ENSP00000401514:S21G	S	+	1	0	DNAH1	52331559	0.001000	0.12720	0.309000	0.25155	0.406000	0.30931	0.006000	0.13152	1.659000	0.50751	0.459000	0.35465	AGC		0.582	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		10	46	0	0	0	0.000978	0	10	46					G	52356519	A	G	52356519	3	3	375	1	0	0	0	0	1	0	0	0	4597	188	7	3	63	3	DNAH1	3	52356519	Missense_Mutation	SNP	A	TCGA-ET-A39S-01A-11D-A19J-08		52356519	145665911	3	7874											
RUNX2	860	broad.mit.edu	37	chr6	45390445	45390445	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaacagcagcagcagcaAcagcagcagcagcagcagca	11	14	0	0	rs563987595	byFrequency	TCGA-ET-A39S-01A-11D-A19J-08	TCGA-ET-A39S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4715aaf8-bfde-4f8c-9099-6b87ed6f3fba	1330fdd2-5fa2-4f99-b8ed-a9b278650139	g.chr6:45390445A>G	ENST00000371438.1	+	2	532	c.174A>G	c.(172-174)caA>caG	p.Q58Q	RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000371432.3_Silent_p.Q44Q|RUNX2_ENST00000352853.5_Silent_p.Q126Q|RUNX2_ENST00000541979.1_Silent_p.Q126Q|RUNX2_ENST00000465038.2_Silent_p.Q58Q|RUNX2_ENST00000576263.1_Silent_p.Q58Q|RUNX2_ENST00000359524.5_Silent_p.Q44Q|RUNX2_ENST00000371436.6_Silent_p.Q58Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	58	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													A|||	6	0.00119808	0.0015	0	5008	,	,		8050	0.002		0	False		,,,				2504	0.002					ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(172-174)caA>caG		runt-related transcription factor 2							16	24	21					6																	45390445		1589	3298	4887	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390445A>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.174A>G	6.37:g.45390445A>G						RUNX2_ENST00000359524.5_Silent_p.Q44Q|RUNX2_ENST00000541979.1_Silent_p.Q126Q|RUNX2_ENST00000371432.3_Silent_p.Q44Q|RUNX2_ENST00000371436.6_Silent_p.Q58Q|RUNX2_ENST00000465038.2_Silent_p.Q58Q|RUNX2_ENST00000576263.1_Silent_p.Q58Q|RUNX2_ENST00000352853.5_Silent_p.Q126Q	p.Q58Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	532	+			58			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.174A>G	CCDS43467.2																																																																																				0.731	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		4	53	0	0	0	0.000602	0	4	53					G	45390445	A	G	45390445	2	3	375	1	0	0	0	0	0	0	0	1	13748	40	2	3		3	RUNX2	6	45390445	Silent	SNP	A	TCGA-ET-A39S-01A-11D-A19J-08		45390445	125724622	4	7875											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A39S-01A-11D-A19J-08	TCGA-ET-A39S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4715aaf8-bfde-4f8c-9099-6b87ed6f3fba	1330fdd2-5fa2-4f99-b8ed-a9b278650139	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		27	56	0	0	0	0.007291	0	27	56					T	140453136	A	T	140453136	3	4	375	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A39S-01A-11D-A19J-08		140453136	18685527	5	7876											
SHPK	23729	broad.mit.edu	37	chr17	3518731	3518731	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtaggtcctgttgaagtaTgggaagtaggcgactggggc	18	5	0	1			TCGA-ET-A39S-01A-11D-A19J-08	TCGA-ET-A39S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4715aaf8-bfde-4f8c-9099-6b87ed6f3fba	1330fdd2-5fa2-4f99-b8ed-a9b278650139	g.chr17:3518731T>C	ENST00000225519.3	-	6	1026	c.924A>G	c.(922-924)ccA>ccG	p.P308P		NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	308					carbohydrate metabolic process (GO:0005975)|cellular response to interleukin-13 (GO:0035963)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|phosphorylation (GO:0016310)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|sedoheptulokinase activity (GO:0050277)			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		TGTTGAAGTATGGGAAGTAGG	0.592																																						ENST00000225519.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(922-924)ccA>ccG		sedoheptulokinase							105	85	92					17																	3518731		2203	4300	6503	SO:0001819	synonymous_variant	23729				carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity	g.chr17:3518731T>C	AF163573	CCDS11030.1	17p13	2008-02-08	2008-02-08	2008-02-08	ENSG00000197417	ENSG00000197417	2.7.1.14		1492	protein-coding gene	gene with protein product		605060	"carbohydrate kinase-like"	CARKL		10673275, 18186520	Standard	NM_013276		Approved	SHK	uc002fvz.1	Q9UHJ6	OTTHUMG00000090694	ENST00000225519.3:c.924A>G	17.37:g.3518731T>C							p.P308P	NM_013276.2	NP_037408.2	Q9UHJ6	SHPK_HUMAN		COAD - Colon adenocarcinoma(5;0.0828)	6	1026	-			308					B2R640|Q8WUH3	Silent	SNP	ENST00000225519.3	37	c.924A>G	CCDS11030.1																																																																																				0.592	SHPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207378.2			20	47	0	0	0	0.008871	0	20	47					C	3518731	T	C	3518731	2	2	375	1	0	0	0	0	0	0	0	1	14290	1451	51	3		3	SHPK	17	3518731	Silent	SNP	T	TCGA-ET-A39S-01A-11D-A19J-08		3518731	77676479	6	7877											
SALL3	27164	broad.mit.edu	37	chr18	76753025	76753025	+	Frame_Shift_Del	DEL	C	C	-													gagcgcatccacgccgcctgCcctggccccggggtccctgc							TCGA-ET-A39S-01A-11D-A19J-08	TCGA-ET-A39S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4715aaf8-bfde-4f8c-9099-6b87ed6f3fba	1330fdd2-5fa2-4f99-b8ed-a9b278650139	g.chr18:76753025delC	ENST00000537592.2	+	2	1034	c.1034delC	c.(1033-1035)gccfs	p.A345fs	SALL3_ENST00000575389.2_Frame_Shift_Del_p.A345fs|SALL3_ENST00000536229.3_Frame_Shift_Del_p.A212fs	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	345					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|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(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		ACGCCGCCTGCCCTGGCCCCG	0.781																																						ENST00000536229.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(634-636)gcfs		spalt-like transcription factor 3							6	8	7					18																	76753025		2080	4053	6133	SO:0001589	frameshift_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76753025delC	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1034delC	18.37:g.76753025delC	ENSP00000441823:p.Ala345fs					SALL3_ENST00000575389.2_Frame_Shift_Del_p.A345fs|SALL3_ENST00000537592.2_Frame_Shift_Del_p.A345fs	p.A212fs			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	1	1344	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	345					Q9UGH1	Frame_Shift_Del	DEL	ENST00000537592.2	37	c.635delC	CCDS12013.1																																																																																				0.781	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		2	4						2	4	---	---	---	---	-	76753025	C	-	76753025	7	5	375	1	0	1	0	1	0	0	0	0	13812	739	26	0	1040	0	SALL3	18	76753025	Frame_Shift_Del	DEL	C	TCGA-ET-A39S-01A-11D-A19J-08		76753025	1324223	7	7878											
STARD8	9754	broad.mit.edu	37	chrX	67940175	67940175	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcacgtatttggggtgccAcccctcatccacgtgcagcg	11	15	1	0			TCGA-ET-A39S-01A-11D-A19J-08	TCGA-ET-A39S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4715aaf8-bfde-4f8c-9099-6b87ed6f3fba	1330fdd2-5fa2-4f99-b8ed-a9b278650139	g.chrX:67940175A>C	ENST00000252336.6	+	7	2091	c.1719A>C	c.(1717-1719)ccA>ccC	p.P573P	STARD8_ENST00000374599.3_Silent_p.P653P|STARD8_ENST00000374597.3_Silent_p.P573P	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	573	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)	p.P573P(4)|p.P653P(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						TTGGGGTGCCACCCCTCATCC	0.577																																						ENST00000252336.6																			6	Substitution - coding silent(6)	p.P573P(4)|p.P653P(2)	urinary_tract(3)|central_nervous_system(3)	NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						c.(1717-1719)ccA>ccC		StAR-related lipid transfer (START) domain containing 8							62	43	49					X																	67940175		2202	4300	6502	SO:0001819	synonymous_variant	9754				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	g.chrX:67940175A>C	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19161	protein-coding gene	gene with protein product		300689	"START domain containing 8"			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.1719A>C	X.37:g.67940175A>C						STARD8_ENST00000374597.3_Silent_p.P573P|STARD8_ENST00000374599.3_Silent_p.P653P	p.P573P	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN			7	2091	+			573			Rho-GAP.		A8K6T2|D3DVT9|Q5JST0|Q68DG7	Silent	SNP	ENST00000252336.6	37	c.1719A>C	CCDS14390.1																																																																																				0.577	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		5	19	0	0	0	0.000602	0	5	19					C	67940175	A	C	67940175	2	2	375	1	0	0	0	0	0	0	0	1	15262	146	6	5		5	STARD8	23	67940175	Silent	SNP	A	TCGA-ET-A39S-01A-11D-A19J-08		67940175	87330385	8	7879											
CD5L	922	broad.mit.edu	37	chr1	157804272	157804272	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccagaagggcaatcctgaaGggttgcttctcgtcctgagc	12	12	1	3			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr1:157804272G>T	ENST00000368174.4	-	4	739	c.643C>A	c.(643-645)Ctt>Att	p.L215I	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	215	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CAATCCTGAAGGGTTGCTTCT	0.532																																						ENST00000368174.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52						c.(643-645)Ctt>Att		CD5 molecule-like							62	53	56					1																	157804272		2203	4300	6503	SO:0001583	missense	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157804272G>T	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"apoptosis inhibitor 6", "CD5 antigen-like (scavenger receptor cysteine rich family)"	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.643C>A	1.37:g.157804272G>T	ENSP00000357156:p.Leu215Ile						p.L215I	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		4	739	-	all_hematologic(112;0.0378)		215			SRCR 2.		A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	c.643C>A	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.627757	0.46944	.	.	ENSG00000073754	ENST00000368174	T	0.58060	0.36	4.97	1.95	0.26073	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.179488	0.27080	N	0.021039	T	0.40247	0.1109	L	0.58925	1.835	0.09310	N	1	D	0.59357	0.985	P	0.52823	0.71	T	0.27088	-1.0084	10	0.51188	T	0.08	.	9.0118	0.36146	0.0:0.1432:0.5607:0.2961	.	215	O43866	CD5L_HUMAN	I	215	ENSP00000357156:L215I	ENSP00000357156:L215I	L	-	1	0	CD5L	156070896	0.987000	0.35691	0.002000	0.10522	0.245000	0.25701	1.852000	0.39348	0.236000	0.21180	0.655000	0.94253	CTT		0.532	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		3	42	1	0	1	1	1	3	42					T	157804272	G	T	157804272	3	4	376	1	0	0	0	0	1	0	0	0	3027	1000	35	4	412	4	CD5L	1	157804272	Missense_Mutation	SNP	G	TCGA-ET-A39T-01A-11D-A19J-08		157804272	91446349	1	7880											
ALK	238	broad.mit.edu	37	chr2	29474117	29474117	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccgctggccccacatgtGgtgaacagccaatgaactgt	12	13	0	2			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr2:29474117G>A	ENST00000389048.3	-	12	2964	c.2058C>T	c.(2056-2058)acC>acT	p.T686T	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	686					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	CCCCACATGTGGTGAACAGCC	0.652			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000389048.3			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	"T, Mis, A"	anaplastic lymphoma kinase (Ki-1)			"L, E, M"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	neuroblastoma	"ALCL, NSCLC, Neuroblastoma"	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	0				NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340						c.(2056-2058)acC>acT		anaplastic lymphoma receptor tyrosine kinase	Adenosine triphosphate(DB00171)						30	33	32					2																	29474117		2203	4300	6503	SO:0001819	synonymous_variant	238	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29474117G>A	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.2058C>T	2.37:g.29474117G>A						ALK_ENST00000431873.1_Intron	p.T686T	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN			12	2964	-	Acute lymphoblastic leukemia(172;0.155)		686					Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Silent	SNP	ENST00000389048.3	37	c.2058C>T	CCDS33172.1																																																																																				0.652	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		3	22	0	0	0	1	0	3	22					A	29474117	G	A	29474117	2	1	376	1	0	0	0	0	0	0	0	1	525	1335	47	2		2	ALK	2	29474117	Silent	SNP	G	TCGA-ET-A39T-01A-11D-A19J-08		29474117	213725256	2	7881											
TBCCD1	55171	broad.mit.edu	37	chr3	186268971	186268971	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgtttggagcctgctgcagGgggtacaaggctgtccagct	15	9	0	0			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr3:186268971G>C	ENST00000424280.1	-	7	2121	c.1642C>G	c.(1642-1644)Cct>Gct	p.P548A	TBCCD1_ENST00000479590.1_5'Flank|TBCCD1_ENST00000446782.1_Missense_Mutation_p.P452A|TBCCD1_ENST00000338733.5_Missense_Mutation_p.P548A	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	548					cell morphogenesis (GO:0000902)|cytoskeleton organization (GO:0007010)|maintenance of centrosome location (GO:0051661)|maintenance of Golgi location (GO:0051684)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|spindle pole centrosome (GO:0031616)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		CCTGCTGCAGGGGGTACAAGG	0.443																																						ENST00000424280.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17						c.(1642-1644)Cct>Gct		TBCC domain containing 1							121	115	117					3																	186268971		2203	4300	6503	SO:0001583	missense	55171				cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding	g.chr3:186268971G>C	BC025748	CCDS3276.1, CCDS75061.1	3q27.3	2006-03-09			ENSG00000113838	ENSG00000113838			25546	protein-coding gene	gene with protein product						12477932	Standard	NM_001134415		Approved	FLJ10560	uc003fqg.3	Q9NVR7	OTTHUMG00000156613	ENST00000424280.1:c.1642C>G	3.37:g.186268971G>C	ENSP00000411253:p.Pro548Ala					TBCCD1_ENST00000446782.1_Missense_Mutation_p.P452A|TBCCD1_ENST00000338733.5_Missense_Mutation_p.P548A	p.P548A	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)	7	2121	-	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		548					B3KW69|D3DNU6|G5E9J4	Missense_Mutation	SNP	ENST00000424280.1	37	c.1642C>G	CCDS3276.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.193680	0.38707	.	.	ENSG00000113838	ENST00000424280;ENST00000338733;ENST00000446782	D;D;D	0.83914	-1.78;-1.78;-1.78	5.39	4.51	0.55191	.	0.063541	0.64402	D	0.000005	T	0.78597	0.4308	L	0.50333	1.59	0.37858	D	0.929633	B;B	0.21905	0.026;0.062	B;B	0.22601	0.04;0.019	T	0.77319	-0.2632	10	0.54805	T	0.06	-13.087	11.7007	0.51569	0.0:0.0:0.824:0.1759	.	452;548	G5E9J4;Q9NVR7	.;TBCC1_HUMAN	A	548;548;452	ENSP00000411253:P548A;ENSP00000341652:P548A;ENSP00000397091:P452A	ENSP00000341652:P548A	P	-	1	0	TBCCD1	187751665	1.000000	0.71417	0.984000	0.44739	0.955000	0.61496	3.839000	0.55835	1.246000	0.43901	0.650000	0.86243	CCT		0.443	TBCCD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344774.1	NM_018138		33	44	0	0	0	1	0	33	44					C	186268971	G	C	186268971	3	2	376	1	0	0	0	0	1	0	0	0	15629	1232	43	4	35	4	TBCCD1	3	186268971	Missense_Mutation	SNP	G	TCGA-ET-A39T-01A-11D-A19J-08		186268971	11753459	3	7882											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		34	35	0	0	0	1	0	34	35					T	140453136	A	T	140453136	3	4	376	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A39T-01A-11D-A19J-08		140453136	18685527	4	7883											
RP1	6101	broad.mit.edu	37	chr8	55538950	55538950	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccaaagatttttatgcaccGcaatctcaagcagaagtggc	8	11	1	2			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr8:55538950G>T	ENST00000220676.1	+	4	2656	c.2508G>T	c.(2506-2508)ccG>ccT	p.P836P		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	836					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTTATGCACCGCAATCTCAAG	0.328																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(2506-2508)ccG>ccT		retinitis pigmentosa 1 (autosomal dominant)							42	46	45					8																	55538950		2200	4297	6497	SO:0001819	synonymous_variant	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55538950G>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2508G>T	8.37:g.55538950G>T							p.P836P	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	2656	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	836						Silent	SNP	ENST00000220676.1	37	c.2508G>T	CCDS6160.1																																																																																				0.328	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		20	35	1	0	6.33239e-15	1	6.80145e-15	20	35					T	55538950	G	T	55538950	2	4	376	1	0	0	0	0	0	0	0	1	13532	1074	38	4		4	RP1	8	55538950	Silent	SNP	G	TCGA-ET-A39T-01A-11D-A19J-08		55538950	90825072	5	7884											
UHRF2	115426	broad.mit.edu	37	chr9	6460581	6460583	+	In_Frame_Del	DEL	AAA	AAA	-													ctctctcctcagatacccagAaagcggtactctagaaatga							TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr9:6460581_6460583delAAA	ENST00000276893.5	+	4	821_823	c.653_655delAAA	c.(652-657)gaaagc>ggc	p.218_219ES>G		NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	218	Interaction with PCNP.|Required for interaction with histone H3. {ECO:0000250}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of cell cycle arrest (GO:0071158)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		AGATACCCAGAAAGCGGTACTCT	0.355																																						ENST00000276893.5																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17						c.(652-657)ggc>g		ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase																																				SO:0001651	inframe_deletion	115426				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:6460581_6460583delAAA	AF274049	CCDS6469.1	9p24.1	2013-01-28	2012-02-23		ENSG00000147854	ENSG00000147854		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	12557	protein-coding gene	gene with protein product	"Np95-like ring finger protein"	615211	"ubiquitin-like with PHD and ring finger domains 2"			12176013	Standard	NM_152896		Approved	RNF107, NIRF, URF2, MGC33463	uc003zjy.3	Q96PU4	OTTHUMG00000019521	ENST00000276893.5:c.653_655delAAA	9.37:g.6460581_6460583delAAA	ENSP00000276893:p.Glu218_Ser219delinsGly						p.ES218del	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)	4	821_823	+		Acute lymphoblastic leukemia(23;0.158)	218			Interaction with PCNP.		Q5VYR1|Q5VYR3|Q659C8|Q8TAG7	In_Frame_Del	DEL	ENST00000276893.5	37	c.653_655delAAA	CCDS6469.1																																																																																				0.355	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051665.3	NM_152306		7	83						7	83	---	---	---	---	-	6460583	AAA	-	6460581	7	5	376	1	0	1	0	1	0	0	0	0	16967	246	9	0	667	0	UHRF2	9	6460581	In_Frame_Del	DEL	AAA	TCGA-ET-A39T-01A-11D-A19J-08		6460581	134752850	6	7885											
ANO9	338440	broad.mit.edu	37	chr11	428731	428731	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctgcgtaccatgagcagGgtcaggacgaggatgacggt	15	11	1	2			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr11:428731G>A	ENST00000332826.6	-	12	1095	c.1011C>T	c.(1009-1011)acC>acT	p.T337T		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	337					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CCATGAGCAGGGTCAGGACGA	0.657																																						ENST00000332826.6																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						c.(1009-1011)acC>acT		anoctamin 9							207	154	172					11																	428731		2198	4296	6494	SO:0001819	synonymous_variant	338440					chloride channel complex	chloride channel activity	g.chr11:428731G>A	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	20679	protein-coding gene	gene with protein product			"tumor protein p53 inducible protein 5", "transmembrane protein 16J"	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.1011C>T	11.37:g.428731G>A							p.T337T	NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN			12	1095	-			337					B3KUC4|B4E134|Q8TEN4	Silent	SNP	ENST00000332826.6	37	c.1011C>T	CCDS31326.1																																																																																				0.657	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302		3	34	0	0	0	1	0	3	34					A	428731	G	A	428731	2	1	376	1	0	0	0	0	0	0	0	1	704	1219	43	2		2	ANO9	11	428731	Silent	SNP	G	TCGA-ET-A39T-01A-11D-A19J-08		428731	134577785	7	7886											
MRGPRX4	117196	broad.mit.edu	37	chr11	18195430	18195430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtggatcccggaagatGccgctgaccaggctgtacgt	13	12	1	2	rs200217617		TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr11:18195430G>A	ENST00000314254.3	+	1	1047	c.627G>A	c.(625-627)atG>atA	p.M209I	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CCCGGAAGATGCCGCTGACCA	0.562																																						ENST00000314254.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(625-627)atG>atA		MAS-related GPR, member X4							106	99	101					11																	18195430		2199	4293	6492	SO:0001583	missense	117196					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18195430G>A	AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"GPCR / Class A : Orphans"	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.627G>A	11.37:g.18195430G>A	ENSP00000314042:p.Met209Ile					RP11-113D6.6_ENST00000527671.1_Intron	p.M209I	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN			1	1047	+			209					Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Missense_Mutation	SNP	ENST00000314254.3	37	c.627G>A	CCDS7831.1	.	.	.	.	.	.	.	.	.	.	G	1.037	-0.680012	0.03353	.	.	ENSG00000179817	ENST00000314254	T	0.36878	1.23	2.85	2.85	0.33270	GPCR, rhodopsin-like superfamily (1);	1.908680	0.02837	N	0.127499	T	0.21062	0.0507	N	0.10645	0.015	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.11324	-1.0592	10	0.06757	T	0.87	.	11.4502	0.50147	0.0:0.0:1.0:0.0	.	209	Q96LA9	MRGX4_HUMAN	I	209	ENSP00000314042:M209I	ENSP00000314042:M209I	M	+	3	0	MRGPRX4	18152006	0.000000	0.05858	0.002000	0.10522	0.038000	0.13279	-0.828000	0.04419	1.616000	0.50265	0.430000	0.28490	ATG		0.562	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1	NM_054032		7	67	0	0	0	1	0	7	67					A	18195430	G	A	18195430	3	1	376	1	0	0	0	0	1	0	0	0	9769	1319	46	2	629	2	MRGPRX4	11	18195430	Missense_Mutation	SNP	G	TCGA-ET-A39T-01A-11D-A19J-08	17766699	18195430	116811086	8	7887											
RAB27A	5873	broad.mit.edu	37	chr15	55497812	55497812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggacttgtccacacaccGttccattcgcttcattatca	5	15	2	0	rs144946000		TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr15:55497812G>A	ENST00000396307.2	-	6	810	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W	RAB27A_ENST00000569493.1_Missense_Mutation_p.R187W|RAB27A_ENST00000336787.1_Missense_Mutation_p.R187W|RAB27A_ENST00000564609.1_Missense_Mutation_p.R187W	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	187					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cytotoxic T cell degranulation (GO:0043316)|exocytosis (GO:0006887)|exosomal secretion (GO:1990182)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|multivesicular body organization (GO:0036257)|multivesicular body sorting pathway (GO:0071985)|natural killer cell degranulation (GO:0043320)|positive regulation of exocytosis (GO:0045921)|positive regulation of gene expression (GO:0010628)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle transport (GO:0048489)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|photoreceptor outer segment (GO:0001750)|secretory granule membrane (GO:0030667)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		TCCACACACCGTTCCATTCGC	0.473													G|||	1	0.000199681	0	0.0014	5008	,	,		19073	0		0	False		,,,				2504	0					ENST00000396307.2																			0				endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9						c.(559-561)Cgg>Tgg		RAB27A, member RAS oncogene family		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	1,4385	2.1+/-5.4	0,1,2192	357	286	310		559,559,559,559	2.4	1.0	15	dbSNP_134	310	2,8582	2.2+/-6.3	0,2,4290	yes	missense,missense,missense,missense	RAB27A	NM_004580.4,NM_183234.2,NM_183235.2,NM_183236.2	101,101,101,101	0,3,6482	AA,AG,GG		0.0233,0.0228,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging	187/222,187/222,187/222,187/222	55497812	3,12967	2193	4292	6485	SO:0001583	missense	5873				small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity	g.chr15:55497812G>A	U38654	CCDS10153.1	15q15-q21.1	2014-09-17			ENSG00000069974	ENSG00000069974		"RAB, member RAS oncogene"	9766	protein-coding gene	gene with protein product		603868				7592656	Standard	NM_183235		Approved	RAB27, RAM, GS2, HsT18676	uc002acq.3	P51159	OTTHUMG00000131959	ENST00000396307.2:c.559C>T	15.37:g.55497812G>A	ENSP00000379601:p.Arg187Trp					RAB27A_ENST00000336787.1_Missense_Mutation_p.R187W|RAB27A_ENST00000569493.1_Missense_Mutation_p.R187W|RAB27A_ENST00000564609.1_Missense_Mutation_p.R187W	p.R187W	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN		all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)	6	810	-			187					O00195|Q6FI40|Q9UIR9|Q9Y5U3	Missense_Mutation	SNP	ENST00000396307.2	37	c.559C>T	CCDS10153.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	21.4	4.138707	0.77775	2.28E-4	2.33E-4	ENSG00000069974	ENST00000396307;ENST00000396304;ENST00000336787	T;T	0.69685	-0.42;-0.42	5.49	2.36	0.29203	.	0.055502	0.64402	D	0.000001	T	0.47875	0.1469	N	0.08118	0	0.58432	D	0.999999	D	0.67145	0.996	B	0.43728	0.429	T	0.57568	-0.7789	10	0.87932	D	0	-2.787	13.729	0.62776	0.0:0.0:0.5984:0.4016	.	187	P51159	RB27A_HUMAN	W	187;179;187	ENSP00000379601:R187W;ENSP00000337761:R187W	ENSP00000337761:R187W	R	-	1	2	RAB27A	53285104	1.000000	0.71417	0.975000	0.42487	0.992000	0.81027	3.696000	0.54757	0.632000	0.30432	0.655000	0.94253	CGG		0.473	RAB27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254918.1	NM_004580, NM_183236		12	118	0	0	0	1	0	12	118					A	55497812	G	A	55497812	3	1	376	1	0	0	0	0	1	0	0	0	12914	1144	40	1	110	1	RAB27A	15	55497812	Missense_Mutation	SNP	G	TCGA-ET-A39T-01A-11D-A19J-08		55497812	47033580	9	7888											
SPNS1	83985	broad.mit.edu	37	chr16	28990543	28990543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccagttattccaccatcgCgcccactctcattgccgacc	7	18	1	0			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr16:28990543C>T	ENST00000311008.11	+	4	889	c.512C>T	c.(511-513)gCg>gTg	p.A171V	SPNS1_ENST00000334536.8_Missense_Mutation_p.A171V|SPNS1_ENST00000352260.7_Missense_Mutation_p.A149V|SPNS1_ENST00000565975.1_Missense_Mutation_p.A216V|RP11-264B17.4_ENST00000567209.1_RNA|SPNS1_ENST00000323081.8_Missense_Mutation_p.A98V|SPNS1_ENST00000561868.1_3'UTR|RP11-264B17.3_ENST00000569969.1_RNA	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	171					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						TCCACCATCGCGCCCACTCTC	0.657																																						ENST00000311008.11																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(511-513)gCg>gTg		spinster homolog 1 (Drosophila)							60	62	62					16																	28990543		2197	4300	6497	SO:0001583	missense	83985				lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding	g.chr16:28990543C>T	BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.512C>T	16.37:g.28990543C>T	ENSP00000309945:p.Ala171Val					SPNS1_ENST00000323081.8_Missense_Mutation_p.A98V|SPNS1_ENST00000561868.1_3'UTR|SPNS1_ENST00000334536.8_Missense_Mutation_p.A171V|SPNS1_ENST00000565975.1_Missense_Mutation_p.A216V|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000352260.7_Missense_Mutation_p.A149V	p.A171V	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN			4	889	+			171					B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Missense_Mutation	SNP	ENST00000311008.11	37	c.512C>T	CCDS10646.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680748	0.68042	.	.	ENSG00000169682	ENST00000311008;ENST00000334536;ENST00000352260;ENST00000323081	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	4.34	4.34	0.51931	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.74344	0.3704	M	0.78801	2.425	0.80722	D	1	P;D;P;D;D	0.76494	0.942;0.989;0.867;0.999;0.998	P;P;P;D;D	0.66979	0.711;0.784;0.821;0.939;0.948	T	0.78848	-0.2042	10	0.87932	D	0	.	14.3725	0.66849	0.0:1.0:0.0:0.0	.	98;149;171;171;171	Q9H2V7-4;Q9H2V7-3;Q9H2V7;Q9H2V7-2;Q9H2V7-5	.;.;SPNS1_HUMAN;.;.	V	171;171;149;98	ENSP00000309945:A171V;ENSP00000335494:A171V;ENSP00000306050:A149V;ENSP00000318228:A98V	ENSP00000309945:A171V	A	+	2	0	SPNS1	28898044	1.000000	0.71417	0.970000	0.41538	0.024000	0.10985	7.271000	0.78506	2.261000	0.74972	0.561000	0.74099	GCG		0.657	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254690.2	NM_032038		33	63	0	0	0	1	0	33	63					T	28990543	C	T	28990543	3	4	376	1	0	0	0	0	1	0	0	0	15073	768	27	1	526	1	SPNS1	16	28990543	Missense_Mutation	SNP	C	TCGA-ET-A39T-01A-11D-A19J-08		28990543	61364210	10	7889											
SNRNP70	6625	broad.mit.edu	37	chr19	49611420	49611420	+	Frame_Shift_Del	DEL	A	A	-													cggccctgacggtccagaggAaaagggccgggatcgtgacc							TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr19:49611420delA	ENST00000598441.1	+	10	1258	c.1034delA	c.(1033-1035)gaafs	p.E345fs	SNRNP70_ENST00000221448.5_Frame_Shift_Del_p.E336fs			P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	345	Arg/Asp/Glu-rich (mixed charge).				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						GGTCCAGAGGAAAAgggccgg	0.746																																						ENST00000221448.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						c.(1006-1008)gafs		small nuclear ribonucleoprotein 70kDa (U1)							3	5	4					19																	49611420		1836	3674	5510	SO:0001589	frameshift_variant	6625				nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr19:49611420delA		CCDS12756.1, CCDS74417.1	19q13.3	2013-02-12	2008-10-29	2008-10-29		ENSG00000104852		"RNA binding motif (RRM) containing"	11150	protein-coding gene	gene with protein product		180740	"small nuclear ribonucleoprotein 70kDa (RNP antigen)"	RNPU1Z, RPU1, SNRP70			Standard	XM_005259177		Approved	U1-70K, Snp1	uc021uxh.1	P08621		ENST00000598441.1:c.1034delA	19.37:g.49611420delA	ENSP00000472998:p.Glu345fs					SNRNP70_ENST00000598441.1_Frame_Shift_Del_p.E345fs	p.E336fs	NM_003089.4	NP_003080.2	P08621	RU17_HUMAN			10	1203	+			345					B3KUA3|P78493|P78494|Q15364|Q15686|Q15687|Q15689|Q99377|Q9UE45|Q9UE46|Q9UE47|Q9UE48|Q9UFQ6	Frame_Shift_Del	DEL	ENST00000598441.1	37	c.1007delA	CCDS12756.1																																																																																				0.746	SNRNP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466266.1	NM_003089		2	4						2	4	---	---	---	---	-	49611420	A	-	49611420	7	5	376	1	0	1	0	1	0	0	0	0	14858	246	9	0	1068	0	SNRNP70	19	49611420	Frame_Shift_Del	DEL	A	TCGA-ET-A39T-01A-11D-A19J-08		49611420	9517563	11	7890											
SNX21	90203	broad.mit.edu	37	chr20	44463079	44463079	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggccctgaccagctgcccctCggggatgggacgtcaggaga	16	13	1	2			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr20:44463079C>A	ENST00000491381.1	+	2	329	c.261C>A	c.(259-261)ctC>ctA	p.L87L	SNX21_ENST00000372542.1_Silent_p.L78L|SNX21_ENST00000462307.1_Silent_p.L87L|TNNC2_ENST00000372557.1_5'Flank|SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000372541.1_Silent_p.L78L|SNX21_ENST00000342644.5_Silent_p.L87L			Q969T3	SNX21_HUMAN	sorting nexin family member 21	87					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				AGCTGCCCCTCGGGGATGGGA	0.692																																						ENST00000372542.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(232-234)ctC>ctA		sorting nexin family member 21							23	30	27					20																	44463079		2201	4297	6498	SO:0001819	synonymous_variant	90203				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr20:44463079C>A	AK095851	CCDS13376.1, CCDS13377.1, CCDS42883.1	20q13.12	2013-01-10	2006-07-24	2006-07-24	ENSG00000124104	ENSG00000124104		"Sorting nexins", "Tetratricopeptide (TTC) repeat domain containing"	16154	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 161"	C20orf161		12461558, 12459172	Standard	NM_152897		Approved	dJ337O18.4, SNX-L	uc002xpv.1	Q969T3	OTTHUMG00000032624	ENST00000491381.1:c.261C>A	20.37:g.44463079C>A						SNX21_ENST00000462307.1_Silent_p.L87L|SNX21_ENST00000491381.1_Silent_p.L87L|SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000342644.5_Silent_p.L87L|SNX21_ENST00000372541.1_Silent_p.L78L	p.L78L			Q969T3	SNX21_HUMAN			1	546	+		Myeloproliferative disorder(115;0.0122)	87					Q5JZH5|Q5JZH6|Q5JZH7|Q8WUR6|Q9BR16	Silent	SNP	ENST00000491381.1	37	c.234C>A	CCDS13377.1																																																																																				0.692	SNX21-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079534.1	NM_033421		3	22	1	0	1	1	1	3	22					A	44463079	C	A	44463079	2	1	376	1	0	0	0	0	0	0	0	1	14893	871	31	4		4	SNX21	20	44463079	Silent	SNP	C	TCGA-ET-A39T-01A-11D-A19J-08		44463079	18562441	12	7891											
ASMTL	8623	broad.mit.edu	37	chrX	1540713	1540713	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccgatgccaggtagacgttCgctgtctctgtgttactgta	11	10	1	1			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chrX:1540713C>T	ENST00000381317.3	-	9	1115	c.1083G>A	c.(1081-1083)gcG>gcA	p.A361A	ASMTL_ENST00000381333.4_Silent_p.A345A|ASMTL_ENST00000416733.2_Silent_p.A285A|ASMTL_ENST00000534940.1_Silent_p.A303A	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	361	ASMT-like.					cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		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)				GGTAGACGTTCGCTGTCTCTG	0.488													c|||	2	0.000399361	0.0015	0	5008	,	,		22567	0		0	False		,,,				2504	0					ENST00000534940.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23						c.(907-909)gcG>gcA		acetylserotonin O-methyltransferase-like			,,	7,4051		0,7,2022	341	344	343		909,1035,1083	-3.2	0.0	X		343	0,8386		0,0,4193	no	coding-synonymous,coding-synonymous,coding-synonymous	ASMTL	NM_001173473.1,NM_001173474.1,NM_004192.3	,,	0,7,6215	TT,TC,CC		0.0,0.1725,0.0563	,,	303/564,345/606,361/622	1540713	7,12437	2029	4193	6222	SO:0001819	synonymous_variant	8623				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity	g.chrX:1540713C>T	Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"Pseudoautosomal regions / PAR1"	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.1083G>A	X.37:g.1540713C>T						ASMTL_ENST00000416733.2_Silent_p.A285A|ASMTL_ENST00000381333.4_Silent_p.A345A|ASMTL_ENST00000381317.3_Silent_p.A361A	p.A303A	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN			9	1134	-		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)	361			ASMT-like.		B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Silent	SNP	ENST00000381317.3	37	c.909G>A	CCDS43917.1																																																																																				0.488	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1	NM_004192		17	192	0	0	0	1	0	17	192					T	1540713	C	T	1540713	2	4	376	1	0	0	0	0	0	0	0	1	1046	871	31	1		1	ASMTL	23	1540713	Silent	SNP	C	TCGA-ET-A39T-01A-11D-A19J-08		1540713	153729847	13	7892											
THOC2	57187	broad.mit.edu	37	chrX	122830671	122830671	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tggatccaggcgttcctttaGaactgtgtctgaaactaaat	9	8	1	2			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chrX:122830671G>C	ENST00000245838.8	-	6	398	c.367C>G	c.(367-369)Cta>Gta	p.L123V	THOC2_ENST00000491737.1_Missense_Mutation_p.L8V|THOC2_ENST00000355725.4_Missense_Mutation_p.L123V	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	123					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CGTTCCTTTAGAACTGTGTCT	0.318																																						ENST00000245838.8																			0				breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						c.(367-369)Cta>Gta		THO complex 2							149	127	134					X																	122830671		1813	4066	5879	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122830671G>C	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"THO complex subunits"	19073	protein-coding gene	gene with protein product		300395	"chromosome X open reading frame 3"	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.367C>G	X.37:g.122830671G>C	ENSP00000245838:p.Leu123Val					THOC2_ENST00000355725.4_Missense_Mutation_p.L123V|THOC2_ENST00000491737.1_Missense_Mutation_p.L8V	p.L123V	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN			6	398	-			123					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.367C>G	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383752	0.42308	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000408933	.	.	.	5.77	1.94	0.25998	.	0.000000	0.47455	D	0.000221	T	0.79076	0.4385	M	0.84433	2.695	0.58432	D	0.999999	D;D	0.69078	0.997;0.996	D;D	0.78314	0.991;0.931	T	0.79184	-0.1908	9	0.54805	T	0.06	-5.7295	13.3716	0.60717	0.252:0.0:0.748:0.0	.	44;123	B4DKZ6;Q8NI27	.;THOC2_HUMAN	V	123;123;8;44	.	ENSP00000245838:L123V	L	-	1	2	THOC2	122658352	1.000000	0.71417	0.993000	0.49108	0.785000	0.44390	2.345000	0.44018	-0.019000	0.14055	-1.195000	0.01675	CTA		0.318	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			38	48	0	0	0	1	0	38	48					C	122830671	G	C	122830671	3	2	376	1	0	0	0	0	1	0	0	0	15862	933	33	4	4546	4	THOC2	23	122830671	Missense_Mutation	SNP	G	TCGA-ET-A39T-01A-11D-A19J-08	121289958	122830671	32439889	14	7893											
SF3A3	10946	broad.mit.edu	37	chr1	38444416	38444416	+	Frame_Shift_Del	DEL	T	T	-													tggtgccctttgacttgggaTttttggcaaacaaagaggta							TCGA-ET-A3BN-01A-11D-A19J-08	TCGA-ET-A3BN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67c66136-9911-40da-a760-b6bc24de8e5e	d652b345-76f2-4f08-bc75-ced94e1c9491	g.chr1:38444416delT	ENST00000373019.4	-	11	1866	c.911delA	c.(910-912)aatfs	p.N304fs	SF3A3_ENST00000489537.1_5'UTR|SF3A3_ENST00000448721.2_Frame_Shift_Del_p.N251fs	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	304					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGACTTGGGATTTTTGGCAAA	0.488																																						ENST00000373019.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12						c.(910-912)atfs		splicing factor 3a, subunit 3, 60kDa							56	52	54					1																	38444416		2203	4295	6498	SO:0001589	frameshift_variant	10946				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding	g.chr1:38444416delT	U08815	CCDS428.1	1p34.3	2012-06-07	2002-08-29		ENSG00000183431	ENSG00000183431			10767	protein-coding gene	gene with protein product		605596	"splicing factor 3a, subunit 3, 60kD"			7816610, 8022796	Standard	NM_006802		Approved	SF3a60, SAP61, PRP9, PRPF9	uc001cci.3	Q12874	OTTHUMG00000004438	ENST00000373019.4:c.911delA	1.37:g.38444416delT	ENSP00000362110:p.Asn304fs					SF3A3_ENST00000448721.2_Frame_Shift_Del_p.N251fs|SF3A3_ENST00000489537.1_5'UTR	p.N304fs	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN			11	1866	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	304					D3DPT5|Q15460|Q5VT87	Frame_Shift_Del	DEL	ENST00000373019.4	37	c.911delA	CCDS428.1																																																																																				0.488	SF3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012976.1	NM_006802		2	4						2	4	---	---	---	---	-	38444416	T	-	38444416	7	5	377	1	0	1	0	1	0	0	0	0	14148	1493	52	0	622	0	SF3A3	1	38444416	Frame_Shift_Del	DEL	T	TCGA-ET-A3BN-01A-11D-A19J-08		38444416	210806205	1	7894											
GALNT14	79623	broad.mit.edu	37	chr2	31147110	31147110	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcggatattgcccttctggaTggaggactccttggggatgc	14	9	1	0			TCGA-ET-A3BN-01A-11D-A19J-08	TCGA-ET-A3BN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67c66136-9911-40da-a760-b6bc24de8e5e	d652b345-76f2-4f08-bc75-ced94e1c9491	g.chr2:31147110T>A	ENST00000349752.5	-	13	1894	c.1255A>T	c.(1255-1257)Atc>Ttc	p.I419F	GALNT14_ENST00000356174.3_Missense_Mutation_p.I386F|GALNT14_ENST00000324589.5_Missense_Mutation_p.I424F|GALNT14_ENST00000420311.2_Missense_Mutation_p.I384F|GALNT14_ENST00000486564.1_Intron|GALNT14_ENST00000406653.1_Missense_Mutation_p.I399F	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	419	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CCCTTCTGGATGGAGGACTCC	0.537																																						ENST00000349752.5																			0				cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43						c.(1255-1257)Atc>Ttc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)							190	177	181					2																	31147110		2203	4300	6503	SO:0001583	missense	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31147110T>A	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"Glycosyltransferase family 2 domain containing"	22946	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 14"	608225	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.1255A>T	2.37:g.31147110T>A	ENSP00000288988:p.Ile419Phe					GALNT14_ENST00000324589.5_Missense_Mutation_p.I424F|GALNT14_ENST00000406653.1_Missense_Mutation_p.I399F|GALNT14_ENST00000486564.1_Intron|GALNT14_ENST00000356174.3_Missense_Mutation_p.I386F|GALNT14_ENST00000420311.2_Missense_Mutation_p.I384F	p.I419F	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN			13	1894	-	Acute lymphoblastic leukemia(172;0.155)		419			Ricin B-type lectin.		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	ENST00000349752.5	37	c.1255A>T	CCDS1773.2	.	.	.	.	.	.	.	.	.	.	T	8.444	0.851458	0.17034	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	T;T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29;0.03	4.84	2.28	0.28536	Ricin B-related lectin (1);Ricin B lectin (1);	3.021500	0.02703	N	0.111964	T	0.55832	0.1945	L	0.43152	1.355	0.34724	D	0.728994	B;B;B;B;B	0.09022	0.001;0.002;0.0;0.001;0.0	B;B;B;B;B	0.09377	0.001;0.004;0.0;0.0;0.0	T	0.55667	-0.8105	10	0.15952	T	0.53	.	4.0759	0.09904	0.3845:0.1076:0.0:0.5079	.	384;386;424;419;399	F5H263;Q96FL9-2;Q96FL9-3;Q96FL9;B3KV89	.;.;.;GLT14_HUMAN;.	F	419;424;399;386;384;386	ENSP00000288988:I419F;ENSP00000314500:I424F;ENSP00000385435:I399F;ENSP00000348497:I386F;ENSP00000415514:I384F;ENSP00000406399:I386F	ENSP00000314500:I424F	I	-	1	0	GALNT14	31000614	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.684000	0.46951	1.813000	0.52934	0.460000	0.39030	ATC		0.537	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		28	79	0	0	0	1	0	28	79					A	31147110	T	A	31147110	3	1	377	1	0	0	0	0	1	0	0	0	6212	1464	51	5	415	5	GALNT14	2	31147110	Missense_Mutation	SNP	T	TCGA-ET-A3BN-01A-11D-A19J-08		31147110	212052263	2	7895											
USP49	25862	broad.mit.edu	37	chr6	41773536	41773536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcctgcgcgtcctgttggtCgtagccgcggaaggcaggga	16	11	0	0			TCGA-ET-A3BN-01A-11D-A19J-08	TCGA-ET-A3BN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67c66136-9911-40da-a760-b6bc24de8e5e	d652b345-76f2-4f08-bc75-ced94e1c9491	g.chr6:41773536C>T	ENST00000394253.3	-	3	1515	c.1186G>A	c.(1186-1188)Gac>Aac	p.D396N	USP49_ENST00000373010.1_Missense_Mutation_p.D396N|USP49_ENST00000297229.2_Missense_Mutation_p.D396N|USP49_ENST00000373006.1_Missense_Mutation_p.D396N|USP49_ENST00000373009.3_Missense_Mutation_p.D396N			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	396	USP.				histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCCTGTTGGTCGTAGCCGCGG	0.622																																						ENST00000394253.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23						c.(1186-1188)Gac>Aac		ubiquitin specific peptidase 49							53	51	52					6																	41773536		2203	4300	6503	SO:0001583	missense	25862				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:41773536C>T	AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"Ubiquitin-specific peptidases"	20078	protein-coding gene	gene with protein product			"ubiquitin specific protease 49"			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.1186G>A	6.37:g.41773536C>T	ENSP00000377797:p.Asp396Asn					USP49_ENST00000373006.1_Missense_Mutation_p.D396N|USP49_ENST00000373010.1_Missense_Mutation_p.D396N|USP49_ENST00000297229.2_Missense_Mutation_p.D396N|USP49_ENST00000373009.3_Missense_Mutation_p.D396N	p.D396N			Q70CQ1	UBP49_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		3	1515	-	Ovarian(28;0.0919)|Colorectal(47;0.121)		396					Q5T3D9|Q5T3E0|Q96CK4	Missense_Mutation	SNP	ENST00000394253.3	37	c.1186G>A		.	.	.	.	.	.	.	.	.	.	C	13.86	2.363947	0.41902	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.20292	0.0488	N	0.13168	0.305	0.80722	D	1	D	0.56968	0.978	P	0.54372	0.75	T	0.03394	-1.1041	10	0.18276	T	0.48	-23.7779	19.2213	0.93797	0.0:1.0:0.0:0.0	.	396	Q70CQ1-2	.	N	396	ENSP00000377797:D396N;ENSP00000362101:D396N;ENSP00000362100:D396N;ENSP00000362097:D396N;ENSP00000297229:D396N	ENSP00000297229:D396N	D	-	1	0	USP49	41881514	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	7.818000	0.86416	2.631000	0.89168	0.655000	0.94253	GAC		0.622	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561		6	36	0	0	0	1	0	6	36					T	41773536	C	T	41773536	3	4	377	1	0	0	0	0	1	0	0	0	17077	884	31	1	752	1	USP49	6	41773536	Missense_Mutation	SNP	C	TCGA-ET-A3BN-01A-11D-A19J-08		41773536	129341531	3	7896											
ATP6V1B2	526	broad.mit.edu	37	chr8	20077879	20077880	+	In_Frame_Ins	INS	-	-	CGAATTTTA													atccctcagagcaccctcagINScgaattttaccctcgagact							TCGA-ET-A3BN-01A-11D-A19J-08	TCGA-ET-A3BN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67c66136-9911-40da-a760-b6bc24de8e5e	d652b345-76f2-4f08-bc75-ced94e1c9491	g.chr8:20077879_20077880insCGAATTTTA	ENST00000276390.2	+	14	1542_1543	c.1502_1503insCGAATTTTA	c.(1501-1506)agcgaa>agCGAATTTTAcgaa	p.502_503insFYE		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	502					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|ruffle (GO:0001726)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	Gallium nitrate(DB05260)	AGCACCCTCAGCGAATTTTACC	0.465																																					Pancreas(119;1230 1726 3901 4036 31644)	ENST00000276390.2																			0				endometrium(1)|kidney(2)|lung(5)|prostate(1)	9						c.(1501-1503)aga>aCGAATTTTAga		ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2																																				SO:0001652	inframe_insertion	526				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr8:20077879_20077880insCGAATTTTA	L35249	CCDS6014.1	8p21.3	2010-04-21	2006-01-13	2002-05-10	ENSG00000147416	ENSG00000147416	3.6.3.14	"ATPases / V-type"	854	protein-coding gene	gene with protein product		606939	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta polypeptide, 56/58kD, isoform 2", "ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2"	VPP3, ATP6B2		2145275, 14580332	Standard	NM_001693		Approved	VATB, Vma2, HO57	uc003wzp.3	P21281	OTTHUMG00000131073	ENST00000276390.2:c.1503_1511dupCGAATTTTA	8.37:g.20077880_20077888dupCGAATTTTA	ENSP00000276390:p.Glu502_Phe503insPheTyrGlu						p.500_501insTNF	NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN		Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	14	1542_1543	+			500					B2R5Z3|D3DSQ5|Q14544|Q15859|Q96IR0	In_Frame_Ins	INS	ENST00000276390.2	37	c.1502_1503insCGAATTTTA	CCDS6014.1																																																																																				0.465	ATP6V1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253732.1	NM_001693		11	90						11	90	---	---	---	---	CGAATTTTA	20077880	-	CGAATTTTA	20077879	7	5	377	1	0	1	1	0	0	0	0	0	1179	971	34	0	1556	0	ATP6V1B2	8	20077879	In_Frame_Ins	INS	-	TCGA-ET-A3BN-01A-11D-A19J-08		20077879	126286143	4	7897											
OR56A1	120796	broad.mit.edu	37	chr11	6048549	6048549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggcagatggccacataaCggtcataggccatgaccata	12	10	1	2			TCGA-ET-A3BN-01A-11D-A19J-08	TCGA-ET-A3BN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67c66136-9911-40da-a760-b6bc24de8e5e	d652b345-76f2-4f08-bc75-ced94e1c9491	g.chr11:6048549C>T	ENST00000316650.5	-	1	422	c.386G>A	c.(385-387)cGt>cAt	p.R129H		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	129						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)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCACATAACGGTCATAGGC	0.507																																						ENST00000316650.5																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33						c.(385-387)cGt>cAt		olfactory receptor, family 56, subfamily A, member 1							127	105	112					11																	6048549		2201	4296	6497	SO:0001583	missense	120796				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6048549C>T	AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"GPCR / Class A : Olfactory receptors"	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.386G>A	11.37:g.6048549C>T	ENSP00000321246:p.Arg129His						p.R129H	NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	422	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	129					B2RNI2|Q6IFL0	Missense_Mutation	SNP	ENST00000316650.5	37	c.386G>A	CCDS31405.1	.	.	.	.	.	.	.	.	.	.	C	9.262	1.043431	0.19748	.	.	ENSG00000180934	ENST00000316650	T	0.77489	-1.1	4.16	2.27	0.28462	GPCR, rhodopsin-like superfamily (1);	0.161506	0.29218	N	0.012783	T	0.80444	0.4624	M	0.92219	3.285	0.22446	N	0.999096	B	0.21520	0.057	B	0.20955	0.032	T	0.74106	-0.3772	10	0.66056	D	0.02	.	9.2606	0.37610	0.0:0.8182:0.0:0.1818	.	129	Q8NGH5	O56A1_HUMAN	H	129	ENSP00000321246:R129H	ENSP00000321246:R129H	R	-	2	0	OR56A1	6005125	0.999000	0.42202	0.978000	0.43139	0.002000	0.02628	3.913000	0.56394	0.511000	0.28236	-0.136000	0.14681	CGT		0.507	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917		28	40	0	0	0	1	0	28	40					T	6048549	C	T	6048549	3	4	377	1	0	0	0	0	1	0	0	0	11133	536	19	1	574	1	OR56A1	11	6048549	Missense_Mutation	SNP	C	TCGA-ET-A3BN-01A-11D-A19J-08		6048549	128957967	5	7898											
SYTL2	54843	broad.mit.edu	37	chr11	85436918	85436918	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcagaaacacttggttcAagcacttgttttccatgaac	6	9	2	2			TCGA-ET-A3BN-01A-11D-A19J-08	TCGA-ET-A3BN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67c66136-9911-40da-a760-b6bc24de8e5e	d652b345-76f2-4f08-bc75-ced94e1c9491	g.chr11:85436918A>G	ENST00000528231.1	-	7	1737				SYTL2_ENST00000525423.1_Silent_p.L194L|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000359152.5_Silent_p.L718L|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_Silent_p.L194L|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CACTTGGTTCAAGCACTTGTT	0.403																																						ENST00000359152.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(2152-2154)ctT>ctC		synaptotagmin-like 2							126	117	120					11																	85436918		2203	4299	6502	SO:0001627	intron_variant	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85436918A>G	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1459+2020T>C	11.37:g.85436918A>G						SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000525423.1_Silent_p.L194L|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000354566.3_Silent_p.L194L	p.L718L	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	1	2153	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	231	I -> V (in Ref. 4; BAB15030).		C2 1.		B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	ENST00000528231.1	37	c.2154T>C	CCDS53688.1																																																																																				0.403	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		9	84	0	0	0	1	0	9	84					G	85436918	A	G	85436918	1	3	377	0	1	0	0	0	0	0	0	0	15480	117	5	3		3	SYTL2	11	85436918	Intron	SNP	A	TCGA-ET-A3BN-01A-11D-A19J-08	79388369	85436918	49569598	6	7899											
PITPNM2	57605	broad.mit.edu	37	chr12	123472877	123472877	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatccagctccaagatgctGgagttgtcatgcctcatgac	9	13	2	2			TCGA-ET-A3BN-01A-11D-A19J-08	TCGA-ET-A3BN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67c66136-9911-40da-a760-b6bc24de8e5e	d652b345-76f2-4f08-bc75-ced94e1c9491	g.chr12:123472877G>A	ENST00000542749.1	-	18	2964	c.2901C>T	c.(2899-2901)tcC>tcT	p.S967S	PITPNM2_ENST00000320201.4_Silent_p.S967S|PITPNM2_ENST00000392428.1_Silent_p.S688S|PITPNM2_ENST00000280562.5_Silent_p.S961S			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	967					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CCAAGATGCTGGAGTTGTCAT	0.632																																						ENST00000280562.5																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(2881-2883)tcC>tcT		phosphatidylinositol transfer protein, membrane-associated 2							133	130	131					12																	123472877		2203	4300	6503	SO:0001819	synonymous_variant	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123472877G>A	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.2901C>T	12.37:g.123472877G>A						PITPNM2_ENST00000320201.4_Silent_p.S967S|PITPNM2_ENST00000392428.1_Silent_p.S688S|PITPNM2_ENST00000542749.1_Silent_p.S967S	p.S961S			Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	19	3088	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		0			DDHD.		Q9P271	Silent	SNP	ENST00000542749.1	37	c.2883C>T	CCDS9242.1																																																																																				0.632	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		10	146	0	0	0	1	0	10	146					A	123472877	G	A	123472877	2	1	377	1	0	0	0	0	0	0	0	1	11951	1335	47	2		2	PITPNM2	12	123472877	Silent	SNP	G	TCGA-ET-A3BN-01A-11D-A19J-08		123472877	10379018	7	7900											
NFATC4	4776	broad.mit.edu	37	chr14	24839190	24839190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagccctgtatgcagcctgcGacgaggtggagtctgagcta	14	11	1	1			TCGA-ET-A3BN-01A-11D-A19J-08	TCGA-ET-A3BN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67c66136-9911-40da-a760-b6bc24de8e5e	d652b345-76f2-4f08-bc75-ced94e1c9491	g.chr14:24839190G>A	ENST00000250373.4	+	2	727	c.586G>A	c.(586-588)Gac>Aac	p.D196N	NFATC4_ENST00000555167.1_5'Flank|NFATC4_ENST00000554050.1_Missense_Mutation_p.D196N|NFATC4_ENST00000424781.2_Missense_Mutation_p.D209N|NFATC4_ENST00000553469.1_Missense_Mutation_p.D228N|NFATC4_ENST00000556169.1_Missense_Mutation_p.D184N|NFATC4_ENST00000554344.1_Missense_Mutation_p.D126N|NFATC4_ENST00000554591.1_Missense_Mutation_p.D259N|NFATC4_ENST00000553879.1_Missense_Mutation_p.D126N|NFATC4_ENST00000554473.1_5'Flank|NFATC4_ENST00000422617.3_Missense_Mutation_p.D184N|NFATC4_ENST00000553708.1_Missense_Mutation_p.D196N|NFATC4_ENST00000554966.1_Missense_Mutation_p.D209N|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000555590.1_Missense_Mutation_p.D209N|NFATC4_ENST00000539237.2_Missense_Mutation_p.D228N|NFATC4_ENST00000413692.2_Missense_Mutation_p.D259N|NFATC4_ENST00000554661.1_Missense_Mutation_p.D126N|NFATC4_ENST00000555453.1_Missense_Mutation_p.D184N|NFATC4_ENST00000556759.1_5'Flank|NFATC4_ENST00000556279.1_Missense_Mutation_p.D228N|NFATC4_ENST00000557451.1_Missense_Mutation_p.D126N	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	196	Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		TGCAGCCTGCGACGAGGTGGA	0.682																																						ENST00000413692.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34						c.(775-777)Gac>Aac		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4							24	26	25					14																	24839190		2187	4282	6469	SO:0001583	missense	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24839190G>A	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"Nuclear factor of activated T-cells"	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.586G>A	14.37:g.24839190G>A	ENSP00000250373:p.Asp196Asn					NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000556279.1_Missense_Mutation_p.D228N|NFATC4_ENST00000556169.1_Missense_Mutation_p.D184N|NFATC4_ENST00000539237.2_Missense_Mutation_p.D228N|NFATC4_ENST00000553708.1_Missense_Mutation_p.D196N|NFATC4_ENST00000554344.1_Missense_Mutation_p.D126N|NFATC4_ENST00000555590.1_Missense_Mutation_p.D209N|NFATC4_ENST00000553879.1_Missense_Mutation_p.D126N|NFATC4_ENST00000422617.3_Missense_Mutation_p.D184N|NFATC4_ENST00000250373.4_Missense_Mutation_p.D196N|NFATC4_ENST00000555453.1_Missense_Mutation_p.D184N|NFATC4_ENST00000554966.1_Missense_Mutation_p.D209N|NFATC4_ENST00000424781.2_Missense_Mutation_p.D209N|NFATC4_ENST00000557451.1_Missense_Mutation_p.D126N|NFATC4_ENST00000554661.1_Missense_Mutation_p.D126N|NFATC4_ENST00000553469.1_Missense_Mutation_p.D228N|NFATC4_ENST00000554050.1_Missense_Mutation_p.D196N|NFATC4_ENST00000554591.1_Missense_Mutation_p.D259N	p.D259N	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	3	919	+			196			2 approximate SP repeats.|Pro-rich.		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	c.775G>A	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614368	0.87359	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000557674;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44	3.78	3.78	0.43462	.	0.101946	0.40818	N	0.001020	T	0.35451	0.0932	L	0.57536	1.79	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.994;0.994;1.0;0.994;1.0;1.0;0.994;0.994;0.994;0.994;1.0;0.99;1.0;1.0	P;P;D;P;D;D;P;P;P;P;D;P;D;D	0.71656	0.649;0.649;0.974;0.736;0.974;0.974;0.649;0.736;0.736;0.649;0.974;0.548;0.974;0.942	T	0.09773	-1.0659	10	0.54805	T	0.06	-8.7055	13.4819	0.61340	0.0:0.0:1.0:0.0	.	184;184;228;228;209;209;209;259;259;184;228;173;259;196	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	N	259;259;209;209;209;228;228;228;196;196;196;173;126;126;126;184;126;184;184	ENSP00000388910:D259N;ENSP00000452039:D259N;ENSP00000451224:D209N;ENSP00000450644:D209N;ENSP00000388668:D209N;ENSP00000439350:D228N;ENSP00000452270:D228N;ENSP00000451502:D228N;ENSP00000451151:D196N;ENSP00000250373:D196N;ENSP00000450590:D196N;ENSP00000452352:D173N;ENSP00000452349:D126N;ENSP00000450469:D126N;ENSP00000450733:D126N;ENSP00000451454:D184N;ENSP00000451284:D126N;ENSP00000396788:D184N;ENSP00000450686:D184N	ENSP00000250373:D196N	D	+	1	0	NFATC4	23909030	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	8.754000	0.91642	2.093000	0.63338	0.467000	0.42956	GAC		0.682	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		3	32	0	0	0	1	0	3	32					A	24839190	G	A	24839190	3	1	377	1	0	0	0	0	1	0	0	0	10365	1058	37	1	785	1	NFATC4	14	24839190	Missense_Mutation	SNP	G	TCGA-ET-A3BN-01A-11D-A19J-08		24839190	82510350	8	7901											
BRCA1	672	broad.mit.edu	37	chr17	41246314	41246314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatttagaacgtccaataCatcagctactttggcatttg	6	10	2	1	rs397508848		TCGA-ET-A3BN-01A-11D-A19J-08	TCGA-ET-A3BN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67c66136-9911-40da-a760-b6bc24de8e5e	d652b345-76f2-4f08-bc75-ced94e1c9491	g.chr17:41246314C>T	ENST00000357654.3	-	10	1352	c.1234G>A	c.(1234-1236)Gta>Ata	p.V412I	BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.V365I|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.V116I|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.V412I|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.V412I|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.V412I|BRCA1_ENST00000591849.1_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	412					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V412L(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ACGTCCAATACATCAGCTACT	0.383			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												ENST00000309486.4			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 1			E		"breast, ovarian"	ovarian		1	Substitution - Missense(1)	p.V412L(1)	lung(1)	NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120						c.(346-348)Gta>Ata	Homologous recombination	breast cancer 1, early onset							93	89	90					17																	41246314		2203	4300	6503	SO:0001583	missense	672	Hereditary Breast-Ovarian Cancer, BRCA1 type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41246314C>T	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.1234G>A	17.37:g.41246314C>T	ENSP00000350283:p.Val412Ile	TCGA Ovarian(2;0.000030)				BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.V412I|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.V412I|BRCA1_ENST00000357654.3_Missense_Mutation_p.V412I|BRCA1_ENST00000493795.1_Missense_Mutation_p.V365I|BRCA1_ENST00000346315.3_Missense_Mutation_p.V412I	p.V116I	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	9	1373	-		Breast(137;0.000717)	412					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.346G>A	CCDS11453.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.420|4.420	0.077637|0.077637	0.08485|0.08485	.|.	.|.	ENSG00000012048|ENSG00000012048	ENST00000473961|ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795;ENST00000470026;ENST00000477152;ENST00000497488;ENST00000494123	.|D;D;D;D;D;D;D;D;D;D	.|0.90844	.|-2.74;-2.74;-2.74;-2.74;-2.74;-2.74;-2.74;-2.74;-2.74;-2.74	4.69|4.69	1.12|1.12	0.20585|0.20585	.|.	.|0.820011	.|0.10800	.|N	.|0.632832	D|D	0.84401|0.84401	0.5464|0.5464	L|L	0.37850|0.37850	1.14|1.14	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B;B	.|0.22541	.|0.007;0.007;0.019;0.016;0.071;0.001	.|B;B;B;B;B;B	.|0.26310	.|0.008;0.008;0.016;0.016;0.068;0.009	T|T	0.73717|0.73717	-0.3895|-0.3895	5|10	.|0.59425	.|D	.|0.04	.|.	5.3564|5.3564	0.16063|0.16063	0.0:0.6344:0.1574:0.2083|0.0:0.6344:0.1574:0.2083	.|.	.|412;371;412;412;412;412	.|E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.|.;.;.;.;BRCA1_HUMAN;.	I|I	277|412;412;412;412;116;412;365;412;386;116;412	.|ENSP00000350283:V412I;ENSP00000326002:V412I;ENSP00000246907:V412I;ENSP00000310938:V116I;ENSP00000418960:V412I;ENSP00000418775:V365I;ENSP00000419274:V412I;ENSP00000419988:V386I;ENSP00000418986:V116I;ENSP00000419103:V412I	.|ENSP00000310938:V116I	M|V	-|-	3|1	0|0	BRCA1|BRCA1	38499840|38499840	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	0.239000|0.239000	0.18023|0.18023	0.144000|0.144000	0.18951|0.18951	0.655000|0.655000	0.94253|0.94253	ATG|GTA		0.383	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		9	114	0	0	0	1	0	9	114					T	41246314	C	T	41246314	3	4	377	1	0	0	0	0	1	0	0	0	1498	478	17	2	4483	2	BRCA1	17	41246314	Missense_Mutation	SNP	C	TCGA-ET-A3BN-01A-11D-A19J-08		41246314	39948896	9	7902											
ABHD8	79575	broad.mit.edu	37	chr19	17405126	17405126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctggtcttcctccaccgGcacaaacttatcgtgcatgc	9	15	1	0			TCGA-ET-A3BN-01A-11D-A19J-08	TCGA-ET-A3BN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67c66136-9911-40da-a760-b6bc24de8e5e	d652b345-76f2-4f08-bc75-ced94e1c9491	g.chr19:17405126G>A	ENST00000247706.3	-	4	1359	c.1120C>T	c.(1120-1122)Ccg>Tcg	p.P374S	MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron|CTD-2278I10.4_ENST00000594077.1_RNA	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	374							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						TCCTCCACCGGCACAAACTTA	0.672																																					Ovarian(156;1368 2543 15275 41187)	ENST00000247706.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						c.(1120-1122)Ccg>Tcg		abhydrolase domain containing 8							59	50	53					19																	17405126		2203	4300	6503	SO:0001583	missense	79575						hydrolase activity	g.chr19:17405126G>A	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"Abhydrolase domain containing"	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.1120C>T	19.37:g.17405126G>A	ENSP00000247706:p.Pro374Ser					MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	p.P374S	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN			4	1359	-			374					Q9HAE9	Missense_Mutation	SNP	ENST00000247706.3	37	c.1120C>T	CCDS12355.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273390	0.80580	.	.	ENSG00000127220	ENST00000247706;ENST00000544788	T	0.70516	-0.49	5.28	5.28	0.74379	Alpha/beta hydrolase fold-1 (1);	0.000000	0.85682	D	0.000000	T	0.72946	0.3524	L	0.46157	1.445	0.80722	D	1	P	0.46395	0.877	P	0.51016	0.656	T	0.69993	-0.4994	10	0.29301	T	0.29	-28.0008	16.4003	0.83639	0.0:0.0:1.0:0.0	.	374	Q96I13	ABHD8_HUMAN	S	374;320	ENSP00000247706:P374S	ENSP00000247706:P374S	P	-	1	0	ABHD8	17266126	1.000000	0.71417	0.996000	0.52242	0.529000	0.34654	9.385000	0.97223	2.470000	0.83445	0.655000	0.94253	CCG		0.672	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	NM_024527		3	35	0	0	0	1	0	3	35					A	17405126	G	A	17405126	3	1	377	1	0	0	0	0	1	0	0	0	87	1203	42	2	207	2	ABHD8	19	17405126	Missense_Mutation	SNP	G	TCGA-ET-A3BN-01A-11D-A19J-08		17405126	41723857	10	7903											
NAPSA	9476	broad.mit.edu	37	chr19	50864374	50864374	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agagcctccccgaaaatcacTgatgcacccttgattccacc	6	16	1	3			TCGA-ET-A3BN-01A-11D-A19J-08	TCGA-ET-A3BN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67c66136-9911-40da-a760-b6bc24de8e5e	d652b345-76f2-4f08-bc75-ced94e1c9491	g.chr19:50864374T>G	ENST00000253719.2	-	5	700	c.492A>C	c.(490-492)tcA>tcC	p.S164S	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	164					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		CGAAAATCACTGATGCACCCT	0.507																																						ENST00000253719.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(490-492)tcA>tcC		napsin A aspartic peptidase							82	83	83					19																	50864374		2203	4300	6503	SO:0001819	synonymous_variant	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50864374T>G	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"kidney-derived aspartic protease-like protein"	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.492A>C	19.37:g.50864374T>G						NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	p.S164S	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	5	700	-		all_neural(266;0.057)	164					Q8WWD9	Silent	SNP	ENST00000253719.2	37	c.492A>C	CCDS12794.1																																																																																				0.507	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		5	90	0	0	0	1	0	5	90					G	50864374	T	G	50864374	2	3	377	1	0	0	0	0	0	0	0	1	10166	1567	55	5		5	NAPSA	19	50864374	Silent	SNP	T	TCGA-ET-A3BN-01A-11D-A19J-08	33459248	50864374	8264609	11	7904											
PIR	8544	broad.mit.edu	37	chrX	15509287	15509287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccacccaactagcatacctCgggtctgccaatgcttctcc	7	17	2	0			TCGA-ET-A3BN-01A-11D-A19J-08	TCGA-ET-A3BN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67c66136-9911-40da-a760-b6bc24de8e5e	d652b345-76f2-4f08-bc75-ced94e1c9491	g.chrX:15509287C>T	ENST00000380421.3	-	2	554	c.94G>A	c.(94-96)Gag>Aag	p.E32K	PIR_ENST00000380420.5_Missense_Mutation_p.E32K|BMX_ENST00000357607.2_Intron|PIR_ENST00000476381.1_5'UTR	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN	pirin (iron-binding nuclear protein)	32					monocyte differentiation (GO:0030224)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|quercetin 2,3-dioxygenase activity (GO:0008127)|transcription cofactor activity (GO:0003712)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					TAGCATACCTCGGGTCTGCCA	0.552																																					Ovarian(180;1587 2015 10555 34192 51653)	ENST00000380421.3																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(94-96)Gag>Aag		pirin (iron-binding nuclear protein)							153	137	142					X																	15509287		2203	4300	6503	SO:0001583	missense	8544				transcription from RNA polymerase II promoter	cytoplasm|nucleus	metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity	g.chrX:15509287C>T	Y07868	CCDS14167.1	Xp22.31	2008-02-05			ENSG00000087842	ENSG00000087842			30048	protein-coding gene	gene with protein product		300931				9079676	Standard	NM_003662		Approved		uc004cwv.3	O00625	OTTHUMG00000021176	ENST00000380421.3:c.94G>A	X.37:g.15509287C>T	ENSP00000369786:p.Glu32Lys					BMX_ENST00000357607.2_Intron|PIR_ENST00000476381.1_5'UTR|PIR_ENST00000380420.5_Missense_Mutation_p.E32K	p.E32K	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN			2	554	-	Hepatocellular(33;0.183)		32					Q5U0G0|Q6FHD2	Missense_Mutation	SNP	ENST00000380421.3	37	c.94G>A	CCDS14167.1	.	.	.	.	.	.	.	.	.	.	C	8.969	0.972468	0.18736	.	.	ENSG00000087842	ENST00000380420;ENST00000380421	T;T	0.41758	0.99;0.99	5.53	4.66	0.58398	Cupin, RmlC-type (1);RmlC-like jelly roll fold (1);Pirin, N-terminal (1);	0.049909	0.85682	D	0.000000	T	0.29684	0.0741	N	0.25957	0.775	0.80722	D	1	P	0.46706	0.883	B	0.42827	0.399	T	0.02925	-1.1093	10	0.14252	T	0.57	-2.5747	11.3191	0.49410	0.0:0.8212:0.1788:0.0	.	32	O00625	PIR_HUMAN	K	32	ENSP00000369785:E32K;ENSP00000369786:E32K	ENSP00000369785:E32K	E	-	1	0	PIR	15419208	0.991000	0.36638	0.249000	0.24280	0.259000	0.26198	3.830000	0.55768	1.081000	0.41110	0.600000	0.82982	GAG		0.552	PIR-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055863.1	NM_003662		11	136	0	0	0	1	0	11	136					T	15509287	C	T	15509287	3	4	377	1	0	0	0	0	1	0	0	0	11944	893	31	1	814	1	PIR	23	15509287	Missense_Mutation	SNP	C	TCGA-ET-A3BN-01A-11D-A19J-08		15509287	139761273	12	7905											
C1orf173	127254	broad.mit.edu	37	chr1	75102110	75102110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttcctggagcagtatatgGtcgaggggctgtctagacaa	13	7	1	1			TCGA-ET-A3BO-01A-11D-A19J-08	TCGA-ET-A3BO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3e8ce68-6e9b-44c5-8cd3-4c39429460fa	cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff	g.chr1:75102110G>A	ENST00000326665.5	-	6	675	c.457C>T	c.(457-459)Cca>Tca	p.P153S	C1orf173_ENST00000420661.2_5'Flank	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		153										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCAGTATATGGTCGAGGGGCT	0.403																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(457-459)Cca>Tca		chromosome 1 open reading frame 173							191	200	197					1																	75102110		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75102110G>A																												ENST00000326665.5:c.457C>T	1.37:g.75102110G>A	ENSP00000322609:p.Pro153Ser						p.P153S	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			6	675	-			153					Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.457C>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.207134	0.79127	.	.	ENSG00000178965	ENST00000326665	T	0.57907	0.37	5.35	5.35	0.76521	.	.	.	.	.	T	0.65984	0.2744	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66889	-0.5809	9	0.59425	D	0.04	-12.8188	18.2066	0.89857	0.0:0.0:1.0:0.0	.	153	Q5RHP9	CA173_HUMAN	S	153	ENSP00000322609:P153S	ENSP00000322609:P153S	P	-	1	0	C1orf173	74874698	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.569000	0.73992	2.661000	0.90470	0.557000	0.71058	CCA		0.403	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			15	264	0	0	0	1	0	15	264					A	75102110	G	A	75102110	3	1	378	1	0	0	0	0	1	0	0	0	2014	1261	44	2	4171	2	C1orf173	1	75102110	Missense_Mutation	SNP	G	TCGA-ET-A3BO-01A-11D-A19J-08		75102110	174148511	1	7906											
LTBP1	4052	broad.mit.edu	37	chr2	33335734	33335734	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccaagtactttccagccCagaaggggatttcaggagag	12	10	1	2			TCGA-ET-A3BO-01A-11D-A19J-08	TCGA-ET-A3BO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3e8ce68-6e9b-44c5-8cd3-4c39429460fa	cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff	g.chr2:33335734C>T	ENST00000404816.2	+	4	1302	c.949C>T	c.(949-951)Cag>Tag	p.Q317*	LTBP1_ENST00000354476.3_Nonsense_Mutation_p.Q317*			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	317					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTTTCCAGCCCAGAAGGGGAT	0.483																																						ENST00000404816.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(949-951)Cag>Tag		latent transforming growth factor beta binding protein 1							123	123	123					2																	33335734		2203	4300	6503	SO:0001587	stop_gained	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33335734C>T		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"Latent transforming growth factor, beta binding proteins"	6714	protein-coding gene	gene with protein product	"TGF-beta1-BP-1"	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.949C>T	2.37:g.33335734C>T	ENSP00000386043:p.Gln317*					LTBP1_ENST00000354476.3_Nonsense_Mutation_p.Q317*	p.Q317*			Q14766	LTBP1_HUMAN			4	1302	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	317					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Nonsense_Mutation	SNP	ENST00000404816.2	37	c.949C>T	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	C	37	6.058320	0.97246	.	.	ENSG00000049323	ENST00000404816;ENST00000354476	.	.	.	5.51	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	13.7096	0.62661	0.3371:0.6629:0.0:0.0	.	.	.	.	X	317	.	ENSP00000346467:Q317X	Q	+	1	0	LTBP1	33189238	0.999000	0.42202	0.748000	0.31131	0.045000	0.14185	2.854000	0.48325	1.300000	0.44818	-0.188000	0.12872	CAG		0.483	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		12	134	0	0	0	1	0	12	134					T	33335734	C	T	33335734	4	4	378	1	0	0	0	0	0	1	0	0	9073	595	21	2	963	2	LTBP1	2	33335734	Nonsense_Mutation	SNP	C	TCGA-ET-A3BO-01A-11D-A19J-08		33335734	209863639	2	7907											
PASK	23178	broad.mit.edu	37	chr2	242065688	242065688	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgctgcaggccagcagccCcgcgcatcacgatcacgggc	12	19	2	0	rs149167340	byFrequency	TCGA-ET-A3BO-01A-11D-A19J-08	TCGA-ET-A3BO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3e8ce68-6e9b-44c5-8cd3-4c39429460fa	cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff	g.chr2:242065688C>T	ENST00000405260.1	-	10	3340	c.2642G>A	c.(2641-2643)gGg>gAg	p.G881E	PASK_ENST00000234040.4_Missense_Mutation_p.G881E|PASK_ENST00000544142.1_Missense_Mutation_p.G695E|PASK_ENST00000403638.3_Missense_Mutation_p.G881E|PASK_ENST00000539818.1_Missense_Mutation_p.G665E|PASK_ENST00000358649.4_Missense_Mutation_p.G881E	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	881					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GCCAGCAGCCCCGCGCATCAC	0.642																																						ENST00000403638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(2641-2643)gGg>gAg		PAS domain containing serine/threonine kinase		C	GLU/GLY	3,4403	6.2+/-15.9	0,3,2200	102	88	92		2642	4.1	0.0	2	dbSNP_134	92	5,8595	4.3+/-15.6	0,5,4295	yes	missense	PASK	NM_015148.2	98	0,8,6495	TT,TC,CC		0.0581,0.0681,0.0615	possibly-damaging	881/1324	242065688	8,12998	2203	4300	6503	SO:0001583	missense	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242065688C>T	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.2642G>A	2.37:g.242065688C>T	ENSP00000384016:p.Gly881Glu					PASK_ENST00000544142.1_Missense_Mutation_p.G695E|PASK_ENST00000539818.1_Missense_Mutation_p.G665E|PASK_ENST00000234040.4_Missense_Mutation_p.G881E|PASK_ENST00000358649.4_Missense_Mutation_p.G881E|PASK_ENST00000405260.1_Missense_Mutation_p.G881E	p.G881E	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	10	2733	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	881					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	c.2642G>A	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.534984	0.45073	6.81E-4	5.81E-4	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638	T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.16;-0.19;0.76	4.94	4.06	0.47325	.	0.526148	0.17466	N	0.173248	T	0.69405	0.3107	L	0.60455	1.87	0.09310	N	1	P;D;P;D;P	0.69078	0.799;0.962;0.873;0.997;0.799	B;P;P;D;B	0.65987	0.276;0.68;0.466;0.94;0.276	T	0.58572	-0.7613	10	0.11485	T	0.65	.	10.5028	0.44815	0.0:0.9079:0.0:0.0921	.	846;695;881;881;881	B7Z7R6;F5GYW7;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;.;PASK_HUMAN	E	881;695;881;881;665;881	ENSP00000234040:G881E;ENSP00000441374:G695E;ENSP00000384016:G881E;ENSP00000351475:G881E;ENSP00000443083:G665E;ENSP00000384438:G881E	ENSP00000234040:G881E	G	-	2	0	PASK	241714361	0.001000	0.12720	0.001000	0.08648	0.301000	0.27625	1.066000	0.30604	1.084000	0.41184	0.561000	0.74099	GGG		0.642	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		4	84	0	0	0	1	0	4	84					T	242065688	C	T	242065688	3	4	378	1	0	0	0	0	1	0	0	0	11472	623	22	2	1365	2	PASK	2	242065688	Missense_Mutation	SNP	C	TCGA-ET-A3BO-01A-11D-A19J-08	208729954	242065688	1133685	3	7908											
DBR1	51163	broad.mit.edu	37	chr3	137892429	137892429	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcatggtttcccccaatgaaGagcgtgagaactggagcctt	11	10	1	3	rs35147674	byFrequency	TCGA-ET-A3BO-01A-11D-A19J-08	TCGA-ET-A3BO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3e8ce68-6e9b-44c5-8cd3-4c39429460fa	cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff	g.chr3:137892429G>A	ENST00000260803.4	-	2	390	c.237C>T	c.(235-237)ctC>ctT	p.L79L	DBR1_ENST00000505015.2_5'UTR|DBR1_ENST00000463982.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	79					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CCCCAATGAAGAGCGTGAGAA	0.408													g|||	21	0.00419329	0	0.0014	5008	,	,		16400	0		0.005	False		,,,				2504	0.0153					ENST00000260803.4																			0				NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(235-237)ctC>ctT		debranching RNA lariats 1		C		3,4403	8.1+/-20.4	0,3,2200	124	126	125		237	-0.4	0.1	3	dbSNP_126	125	42,8558	27.9+/-77.7	0,42,4258	no	coding-synonymous	DBR1	NM_016216.3		0,45,6458	AA,AG,GG		0.4884,0.0681,0.346		79/545	137892429	45,12961	2203	4300	6503	SO:0001819	synonymous_variant	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137892429G>A	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"debranching enzyme (S. Cerevisiae) homolog 1", "debranching enzyme homolog 1 (S. cerevisiae)"			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.237C>T	3.37:g.137892429G>A						DBR1_ENST00000463982.2_5'UTR|DBR1_ENST00000505015.2_5'UTR	p.L79L	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN			2	390	-			79					Q96GH0|Q9NXQ6	Silent	SNP	ENST00000260803.4	37	c.237C>T	CCDS33863.1																																																																																				0.408	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1			5	123	0	0	0	1	0	5	123					A	137892429	G	A	137892429	2	1	378	1	0	0	0	0	0	0	0	1	4257	929	33	2		2	DBR1	3	137892429	Silent	SNP	G	TCGA-ET-A3BO-01A-11D-A19J-08		137892429	60130001	4	7909											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A3BO-01A-11D-A19J-08	TCGA-ET-A3BO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3e8ce68-6e9b-44c5-8cd3-4c39429460fa	cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		35	68	0	0	0	1	0	35	68					T	140453136	A	T	140453136	3	4	378	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A3BO-01A-11D-A19J-08		140453136	18685527	5	7910											
TG	7038	broad.mit.edu	37	chr8	133981764	133981765	+	Frame_Shift_Ins	INS	-	-	AT													cgttccaaaaactgatggggINSatatccattagaaataaagt							TCGA-ET-A3BO-01A-11D-A19J-08	TCGA-ET-A3BO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3e8ce68-6e9b-44c5-8cd3-4c39429460fa	cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff	g.chr8:133981764_133981765insAT	ENST00000220616.4	+	32	5965_5966	c.5925_5926insAT	c.(5926-5928)atafs	p.I1976fs	TG_ENST00000542445.1_Frame_Shift_Ins_p.I346fs|TG_ENST00000519543.1_Frame_Shift_Ins_p.I130fs|TG_ENST00000377869.1_Frame_Shift_Ins_p.I1919fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1976					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AACTGATGGGGATATCCATTAG	0.347																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(5923-5928)ggtatcfs		thyroglobulin																																				SO:0001589	frameshift_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133981764_133981765insAT	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.5928_5929dupAT	8.37:g.133981767_133981768dupAT	ENSP00000220616:p.Ile1976fs					TG_ENST00000542445.1_Frame_Shift_Ins_p.I346fs|TG_ENST00000519543.1_Frame_Shift_Ins_p.I130fs|TG_ENST00000377869.1_Frame_Shift_Ins_p.I1919fs	p.I1976fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	32	5965_5966	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1976					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Frame_Shift_Ins	INS	ENST00000220616.4	37	c.5925_5926insAT	CCDS34944.1																																																																																				0.347	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		38	85						38	85	---	---	---	---	AT	133981765	-	AT	133981764	7	5	378	1	0	1	1	0	0	0	0	0	15810	1161	41	0	6051	0	TG	8	133981764	Frame_Shift_Ins	INS	-	TCGA-ET-A3BO-01A-11D-A19J-08		133981764	12382258	6	7911											
H2AFX	3014	broad.mit.edu	37	chr11	118966071	118966071	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgcgacttggccttggcgcGggccttgccgccagtcttgc	15	15	1	0			TCGA-ET-A3BO-01A-11D-A19J-08	TCGA-ET-A3BO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3e8ce68-6e9b-44c5-8cd3-4c39429460fa	cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff	g.chr11:118966071G>T	ENST00000530167.1	-	1	106	c.34C>A	c.(34-36)Cgc>Agc	p.R12S		NM_002105.2	NP_002096.1	P16104	H2AX_HUMAN	H2A histone family, member X	12					cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|nucleosome assembly (GO:0006334)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)			lung(3)	3	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		GCCTTGGCGCGGGCCTTGCCG	0.687								Chromatin Structure			OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000530167.1																			0				lung(3)	3						c.(34-36)Cgc>Agc	Chromatin Structure	H2A histone family, member X							5	7	6					11																	118966071		1925	3910	5835	SO:0001583	missense	3014				DNA damage checkpoint|double-strand break repair via homologous recombination|meiosis|nucleosome assembly|positive regulation of DNA repair|response to ionizing radiation	nucleoplasm|nucleosome	DNA binding|enzyme binding|histone binding	g.chr11:118966071G>T	X14850	CCDS8410.1	11q23.3	2011-01-27						"Histones / Replication-independent"	4739	protein-coding gene	gene with protein product		601772		H2AX		8076949	Standard	NM_002105		Approved		uc001pvg.3	P16104		ENST00000530167.1:c.34C>A	11.37:g.118966071G>T	ENSP00000434024:p.Arg12Ser		OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1492		p.R12S	NM_002105.2	NP_002096.1	P16104	H2AX_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)	1	106	-	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	12					Q4ZGJ7|Q6IAS5	Missense_Mutation	SNP	ENST00000530167.1	37	c.34C>A	CCDS8410.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006843	0.93287	.	.	ENSG00000188486	ENST00000530167;ENST00000375167	D;D	0.84873	-1.91;-1.91	5.81	5.81	0.92471	Histone-fold (2);Histone H2A (1);	0.000000	0.64402	D	0.000012	D	0.86669	0.5988	L	0.28740	0.885	0.80722	D	1	D	0.56035	0.974	P	0.57057	0.812	D	0.86525	0.1818	10	0.48119	T	0.1	.	19.0593	0.93080	0.0:0.0:1.0:0.0	.	12	P16104	H2AX_HUMAN	S	12	ENSP00000434024:R12S;ENSP00000364310:R12S	ENSP00000364310:R12S	R	-	1	0	H2AFX	118471281	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.267000	0.65530	2.751000	0.94390	0.655000	0.94253	CGC		0.687	H2AFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388330.2	NM_002105		4	15	1	0	0.00909568	1	0.0093632	4	15					T	118966071	G	T	118966071	3	4	378	1	0	0	0	0	1	0	0	0	6928	1116	39	4	401	4	H2AFX	11	118966071	Missense_Mutation	SNP	G	TCGA-ET-A3BO-01A-11D-A19J-08		118966071	16040445	7	7912											
EMR2	30817	broad.mit.edu	37	chr19	14865797	14865797	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgggccatgaggacggcaAagctgctcaggtgggtgcaa	17	8	1	1			TCGA-ET-A3BO-01A-11D-A19J-08	TCGA-ET-A3BO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3e8ce68-6e9b-44c5-8cd3-4c39429460fa	cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff	g.chr19:14865797A>G	ENST00000315576.3	-	14	2010	c.1559T>C	c.(1558-1560)tTt>tCt	p.F520S	EMR2_ENST00000601345.1_Missense_Mutation_p.F509S|EMR2_ENST00000353876.1_Missense_Mutation_p.F427S|EMR2_ENST00000392965.3_Intron|EMR2_ENST00000594294.1_Missense_Mutation_p.F471S|EMR2_ENST00000392967.2_Missense_Mutation_p.F509S|EMR2_ENST00000392964.3_Silent_p.L184L|EMR2_ENST00000353005.1_Missense_Mutation_p.F378S|EMR2_ENST00000346057.1_Missense_Mutation_p.F471S|EMR2_ENST00000594076.1_Missense_Mutation_p.F427S|EMR2_ENST00000596991.2_Missense_Mutation_p.F509S|EMR2_ENST00000595839.1_Missense_Mutation_p.F378S	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	520	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GAGGACGGCAAAGCTGCTCAG	0.572																																						ENST00000315576.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						c.(1558-1560)tTt>tCt		egf-like module containing, mucin-like, hormone receptor-like 2							162	122	136					19																	14865797		2203	4300	6503	SO:0001583	missense	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14865797A>G	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"CD molecules", "-", "GPCR / Class B : Orphans"	3337	protein-coding gene	gene with protein product		606100	"egf-like module containing, mucin-like, hormone receptor-like sequence 2"				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.1559T>C	19.37:g.14865797A>G	ENSP00000319883:p.Phe520Ser					EMR2_ENST00000392965.3_Intron|EMR2_ENST00000346057.1_Missense_Mutation_p.F471S|EMR2_ENST00000594294.1_Missense_Mutation_p.F471S|EMR2_ENST00000392964.3_Silent_p.L184L|EMR2_ENST00000392967.2_Missense_Mutation_p.F509S|EMR2_ENST00000353876.1_Missense_Mutation_p.F427S|EMR2_ENST00000594076.1_Missense_Mutation_p.F427S|EMR2_ENST00000596991.2_Missense_Mutation_p.F509S|EMR2_ENST00000601345.1_Missense_Mutation_p.F509S|EMR2_ENST00000353005.1_Missense_Mutation_p.F378S|EMR2_ENST00000595839.1_Missense_Mutation_p.F378S	p.F520S	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN			14	2010	-			520			GPS.		B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	c.1559T>C	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	A	14.50	2.552670	0.45487	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005	D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22;-2.22	4.05	4.05	0.47172	GPS domain (3);	.	.	.	.	D	0.95059	0.8400	H	0.96943	3.91	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.85130	0.995;0.988;0.997;0.995;0.997;0.997;0.995	D	0.95376	0.8469	9	0.87932	D	0	.	9.9468	0.41613	1.0:0.0:0.0:0.0	.	427;520;378;471;520;520;509	Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;A8K6W1;Q9UHX3;Q9UHX3-2	.;.;.;.;.;EMR2_HUMAN;.	S	520;509;471;427;378	ENSP00000319883:F520S;ENSP00000376694:F509S;ENSP00000263380:F471S;ENSP00000319454:F427S;ENSP00000319838:F378S	ENSP00000319883:F520S	F	-	2	0	EMR2	14726797	1.000000	0.71417	0.989000	0.46669	0.008000	0.06430	6.198000	0.72106	1.763000	0.52060	0.416000	0.27883	TTT		0.572	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			4	68	0	0	0	1	0	4	68					G	14865797	A	G	14865797	3	3	378	1	0	0	0	0	1	0	0	0	5105	14	1	3	944	3	EMR2	19	14865797	Missense_Mutation	SNP	A	TCGA-ET-A3BO-01A-11D-A19J-08		14865797	44263186	8	7913											
OR7A17	26333	broad.mit.edu	37	chr19	14992048	14992048	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggatgatgagcagattcccGagcacagtgaccaggtacat	12	9	0	4			TCGA-ET-A3BO-01A-11D-A19J-08	TCGA-ET-A3BO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3e8ce68-6e9b-44c5-8cd3-4c39429460fa	cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff	g.chr19:14992048G>A	ENST00000327462.2	-	1	216	c.120C>T	c.(118-120)ctC>ctT	p.L40L		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					GCAGATTCCCGAGCACAGTGA	0.502																																						ENST00000327462.2																			0				breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12						c.(118-120)ctC>ctT		olfactory receptor, family 7, subfamily A, member 17							57	48	51					19																	14992048		2203	4299	6502	SO:0001819	synonymous_variant	26333				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14992048G>A	X64993	CCDS12319.1	19p13.12	2012-08-09				ENSG00000185385		"GPCR / Class A : Olfactory receptors"	8363	protein-coding gene	gene with protein product						1370859	Standard	NM_030901		Approved	HTPCRX19	uc010xob.2	O14581		ENST00000327462.2:c.120C>T	19.37:g.14992048G>A							p.L40L	NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN			1	216	-	Ovarian(108;0.203)		40					Q6IFQ6|Q96R98	Silent	SNP	ENST00000327462.2	37	c.120C>T	CCDS12319.1																																																																																				0.502	OR7A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466523.1	NM_030901		6	62	0	0	0	1	0	6	62					A	14992048	G	A	14992048	2	1	378	1	0	0	0	0	0	0	0	1	11215	1045	37	1		1	OR7A17	19	14992048	Silent	SNP	G	TCGA-ET-A3BO-01A-11D-A19J-08	126251	14992048	44136935	9	7914											
KHDRBS2	202559	broad.mit.edu	37	chr6	62688015	62688015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccaatgcatgactcatacGtgaataagcttccccaggtg	8	11	1	2			TCGA-ET-A3BP-01A-21D-A19J-08	TCGA-ET-A3BP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38e76335-cbaa-4fa3-a6dc-699dff962ddb	87416984-7a05-45a1-89c1-b48a30cc6f22	g.chr6:62688015G>A	ENST00000281156.4	-	4	717	c.439C>T	c.(439-441)Cgt>Tgt	p.R147C		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	147					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TGACTCATACGTGAATAAGCT	0.368																																						ENST00000281156.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(439-441)Cgt>Tgt		KH domain containing, RNA binding, signal transduction associated 2							117	109	112					6																	62688015		2203	4300	6503	SO:0001583	missense	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62688015G>A	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"Sam68-like mammalian protein 1"	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.439C>T	6.37:g.62688015G>A	ENSP00000281156:p.Arg147Cys						p.R147C	NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	4	717	-			147					A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	c.439C>T	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.894826	0.91962	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.19938	2.11	5.46	5.46	0.80206	K Homology (1);	0.000000	0.85682	D	0.000000	T	0.44030	0.1274	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.45848	-0.9233	10	0.87932	D	0	-2.563	19.3174	0.94220	0.0:0.0:1.0:0.0	.	147	Q5VWX1	KHDR2_HUMAN	C	147	ENSP00000281156:R147C	ENSP00000281156:R147C	R	-	1	0	KHDRBS2	62745974	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.837000	0.99465	2.569000	0.86673	0.650000	0.86243	CGT		0.368	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		27	40	0	0	0	0.144211	0	27	40					A	62688015	G	A	62688015	3	1	379	1	0	0	0	0	1	0	0	0	8147	1145	40	1	634	1	KHDRBS2	6	62688015	Missense_Mutation	SNP	G	TCGA-ET-A3BP-01A-21D-A19J-08		62688015	108427052	1	7915											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A3BP-01A-21D-A19J-08	TCGA-ET-A3BP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38e76335-cbaa-4fa3-a6dc-699dff962ddb	87416984-7a05-45a1-89c1-b48a30cc6f22	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		37	46	0	0	0	0.074837	0	37	46					T	140453136	A	T	140453136	3	4	379	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A3BP-01A-21D-A19J-08		140453136	18685527	2	7916											
ATF7IP2	80063	broad.mit.edu	37	chr16	10524630	10524630	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aatgttccaagcggtaatcaGagtttcagtcctagtgtcat	9	8	3	1			TCGA-ET-A3BP-01A-21D-A19J-08	TCGA-ET-A3BP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38e76335-cbaa-4fa3-a6dc-699dff962ddb	87416984-7a05-45a1-89c1-b48a30cc6f22	g.chr16:10524630G>A	ENST00000396560.2	+	3	380	c.153G>A	c.(151-153)caG>caA	p.Q51Q	ATF7IP2_ENST00000324570.5_Silent_p.Q51Q|ATF7IP2_ENST00000356427.2_Silent_p.Q51Q|ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Silent_p.Q51Q	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	51					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						GCGGTAATCAGAGTTTCAGTC	0.408																																						ENST00000396560.2																			0				large_intestine(3)	3						c.(151-153)caG>caA		activating transcription factor 7 interacting protein 2							67	64	65					16																	10524630		2197	4300	6497	SO:0001819	synonymous_variant	80063				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr16:10524630G>A	AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.153G>A	16.37:g.10524630G>A						ATF7IP2_ENST00000324570.5_Silent_p.Q51Q|ATF7IP2_ENST00000356427.2_Silent_p.Q51Q|ATF7IP2_ENST00000396559.1_Silent_p.Q51Q|ATF7IP2_ENST00000543967.1_Intron	p.Q51Q	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN			3	380	+			51					B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Silent	SNP	ENST00000396560.2	37	c.153G>A	CCDS10540.1																																																																																				0.408	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997		21	26	0	0	0	0.062417	0	21	26					A	10524630	G	A	10524630	2	1	379	1	0	0	0	0	0	0	0	1	1088	933	33	2		2	ATF7IP2	16	10524630	Silent	SNP	G	TCGA-ET-A3BP-01A-21D-A19J-08		10524630	79830123	3	7917											
ADCY7	113	broad.mit.edu	37	chr16	50339756	50339756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggagaagggctttgagcGcgaggtgagggcccccagca	17	11	0	3	rs77603243	byFrequency	TCGA-ET-A3BP-01A-21D-A19J-08	TCGA-ET-A3BP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38e76335-cbaa-4fa3-a6dc-699dff962ddb	87416984-7a05-45a1-89c1-b48a30cc6f22	g.chr16:50339756G>A	ENST00000394697.2	+	14	2088	c.1748G>A	c.(1747-1749)cGc>cAc	p.R583H	ADCY7_ENST00000566433.2_Missense_Mutation_p.R583H|ADCY7_ENST00000537579.1_3'UTR|ADCY7_ENST00000538642.1_Missense_Mutation_p.R583H|ADCY7_ENST00000254235.3_Missense_Mutation_p.R583H			P51828	ADCY7_HUMAN	adenylate cyclase 7	583					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)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|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)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		GGCTTTGAGCGCGAGGTGAGG	0.672													G|||	2	0.000399361	0	0.0014	5008	,	,		14413	0		0.001	False		,,,				2504	0					ENST00000394697.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35						c.(1747-1749)cGc>cAc		adenylate cyclase 7	Bromocriptine(DB01200)	G	HIS/ARG	0,4396		0,0,2198	44	42	43		1748	3.0	1.0	16	dbSNP_131	43	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ADCY7	NM_001114.3	29	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	benign	583/1081	50339756	1,12995	2198	4300	6498	SO:0001583	missense	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:50339756G>A	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"Adenylate cyclases"	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.1748G>A	16.37:g.50339756G>A	ENSP00000378187:p.Arg583His					ADCY7_ENST00000566433.2_Missense_Mutation_p.R583H|ADCY7_ENST00000538642.1_Missense_Mutation_p.R583H|ADCY7_ENST00000537579.1_3'UTR|ADCY7_ENST00000254235.3_Missense_Mutation_p.R583H	p.R583H			P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	14	2088	+		all_cancers(37;0.0127)	583					A0AVA6	Missense_Mutation	SNP	ENST00000394697.2	37	c.1748G>A	CCDS10741.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	16.14	3.037475	0.54896	0.0	1.16E-4	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000254235	T;T;T	0.76578	-1.03;-1.03;-1.03	5.34	3.02	0.34903	.	0.581491	0.12396	U	0.472558	T	0.68595	0.3018	L	0.51422	1.61	0.80722	D	1	B;B	0.15473	0.01;0.013	B;B	0.18263	0.013;0.021	T	0.60193	-0.7311	10	0.23302	T	0.38	.	6.6909	0.23171	0.3471:0.0:0.6529:0.0	.	583;583	P51828;F5H4D1	ADCY7_HUMAN;.	H	583	ENSP00000445046:R583H;ENSP00000378187:R583H;ENSP00000254235:R583H	ENSP00000254235:R583H	R	+	2	0	ADCY7	48897257	0.968000	0.33430	0.984000	0.44739	0.888000	0.51559	1.118000	0.31246	1.231000	0.43661	0.591000	0.81541	CGC		0.672	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			12	26	0	0	0	0.080935	0	12	26					A	50339756	G	A	50339756	3	1	379	1	0	0	0	0	1	0	0	0	299	1087	38	1	1798	1	ADCY7	16	50339756	Missense_Mutation	SNP	G	TCGA-ET-A3BP-01A-21D-A19J-08	39815126	50339756	40014997	4	7918											
MXRA5	25878	broad.mit.edu	37	chrX	3242413	3242413	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacgtcggttcagctggataTctatggatggctgcatgacc	13	9	2	1			TCGA-ET-A3BP-01A-21D-A19J-08	TCGA-ET-A3BP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38e76335-cbaa-4fa3-a6dc-699dff962ddb	87416984-7a05-45a1-89c1-b48a30cc6f22	g.chrX:3242413T>G	ENST00000217939.6	-	5	1467	c.1313A>C	c.(1312-1314)gAt>gCt	p.D438A		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	438						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CAGCTGGATATCTATGGATGG	0.483																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(1312-1314)gAt>gCt		matrix-remodelling associated 5							117	113	115					X																	3242413		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3242413T>G	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.1313A>C	X.37:g.3242413T>G	ENSP00000217939:p.Asp438Ala						p.D438A	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	1467	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	438					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.1313A>C	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	T	4.547	0.101597	0.08731	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.62639	0.01	3.63	3.63	0.41609	.	0.347256	0.20108	U	0.099087	T	0.49184	0.1542	M	0.65975	2.015	0.09310	N	1	B	0.33694	0.421	B	0.25140	0.058	T	0.37934	-0.9684	10	0.07325	T	0.83	.	7.756	0.28925	0.1893:0.0:0.0:0.8107	.	438	Q9NR99	MXRA5_HUMAN	A	438	ENSP00000217939:D438A	ENSP00000217939:D438A	D	-	2	0	MXRA5	3252413	0.944000	0.32072	0.001000	0.08648	0.308000	0.27856	3.052000	0.49893	1.167000	0.42706	0.352000	0.21897	GAT		0.483	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		31	97	0	0	0	0.173368	0	31	97					G	3242413	T	G	3242413	3	3	379	1	0	0	0	0	1	0	0	0	10003	1435	50	5	7185	5	MXRA5	23	3242413	Missense_Mutation	SNP	T	TCGA-ET-A3BP-01A-21D-A19J-08		3242413	152028147	5	7919											
VAV3	10451	broad.mit.edu	37	chr1	108292102	108292102	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctttttgttttctttatcGgttgtaggattattggctat	8	5	1	0	rs143070546		TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr1:108292102G>A	ENST00000370056.4	-	14	1648	c.1374C>T	c.(1372-1374)acC>acT	p.T458T	VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000371846.4_Silent_p.T393T|VAV3_ENST00000527011.1_Silent_p.T458T	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	458	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TTTCTTTATCGGTTGTAGGAT	0.294													G|||	1	0.000199681	8e-04	0	5008	,	,		18953	0		0	False		,,,				2504	0					ENST00000370056.4																			0				NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58						c.(1372-1374)acC>acT		vav 3 guanine nucleotide exchange factor							144	132	137					1																	108292102		2202	4299	6501	SO:0001819	synonymous_variant	10451				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108292102G>A	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12659	protein-coding gene	gene with protein product		605541	"vav 3 oncogene"				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.1374C>T	1.37:g.108292102G>A						VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000371846.4_Silent_p.T393T|VAV3_ENST00000527011.1_Silent_p.T458T	p.T458T	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	14	1648	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	458			PH.		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Silent	SNP	ENST00000370056.4	37	c.1374C>T	CCDS785.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	7.209	0.595054	0.13875	.	.	ENSG00000134215	ENST00000529809;ENST00000490388	.	.	.	5.83	-3.51	0.04696	.	.	.	.	.	T	0.21962	0.0529	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33727	-0.9857	4	.	.	.	.	2.4834	0.04593	0.2864:0.3991:0.1195:0.1949	.	.	.	.	L	10;453	.	.	P	-	2	0	VAV3	108093625	0.004000	0.15560	0.968000	0.41197	0.924000	0.55760	-0.998000	0.03701	-0.845000	0.04179	-1.295000	0.01343	CCG		0.294	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		9	42	0	0	0	0.006214	0	9	42					A	108292102	G	A	108292102	2	1	380	1	0	0	0	0	0	0	0	1	17130	1103	39	1		1	VAV3	1	108292102	Silent	SNP	G	TCGA-ET-A3BQ-01B-11D-A202-08		108292102	140958519	1	7920											
SLC8A1	6546	broad.mit.edu	37	chr2	40342407	40342407	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcctttagaagccttttaTgtggcagtaggcctccaggg	12	9	0	1			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr2:40342407T>C	ENST00000403092.1	-	11	2941	c.2908A>G	c.(2908-2910)Ata>Gta	p.I970V	SLC8A1_ENST00000542756.1_Missense_Mutation_p.I965V|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_Missense_Mutation_p.I934V|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.I970V|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.I962V|SLC8A1_ENST00000406391.2_Missense_Mutation_p.I934V|SLC8A1_ENST00000402441.1_Missense_Mutation_p.I934V|SLC8A1_ENST00000542024.1_Missense_Mutation_p.I934V|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.I965V|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000406785.2_Missense_Mutation_p.I934V|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	970					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AAGCCTTTTATGTGGCAGTAG	0.408																																						ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(2800-2802)Ata>Gta		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						32	37	36					2																	40342407		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40342407T>C		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2908A>G	2.37:g.40342407T>C	ENSP00000384763:p.Ile970Val					SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000402441.1_Missense_Mutation_p.I934V|SLC8A1_ENST00000542024.1_Missense_Mutation_p.I934V|SLC8A1_ENST00000542756.1_Missense_Mutation_p.I965V|SLC8A1_ENST00000408028.2_Missense_Mutation_p.I962V|SLC8A1_ENST00000332839.4_Missense_Mutation_p.I970V|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000406391.2_Missense_Mutation_p.I934V|SLC8A1_ENST00000405901.3_Missense_Mutation_p.I965V|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_Missense_Mutation_p.I934V|SLC8A1_ENST00000403092.1_Missense_Mutation_p.I970V|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA	p.I934V			P32418	NAC1_HUMAN			8	2989	-			970					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.2800A>G	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	T	11.15	1.554508	0.27739	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.37411	1.23;1.24;1.25;1.24;1.23;1.23;1.25;1.2;1.23;1.22	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.61236	0.2331	M	0.77712	2.385	0.53688	D	0.999979	B;D;B;B	0.76494	0.001;0.999;0.282;0.088	B;D;B;B	0.81914	0.002;0.995;0.31;0.06	T	0.64622	-0.6364	10	0.59425	D	0.04	.	14.3518	0.66708	0.0:0.0:0.0:1.0	.	934;957;965;970	P32418-2;P32418-3;F6VPY9;P32418	.;.;.;NAC1_HUMAN	V	934;970;965;970;965;934;934;970;962;957;934;934	ENSP00000383886:I934V;ENSP00000440727:I965V;ENSP00000384763:I970V;ENSP00000385678:I965V;ENSP00000385188:I934V;ENSP00000385535:I934V;ENSP00000332931:I970V;ENSP00000384908:I962V;ENSP00000385811:I934V;ENSP00000443515:I934V	ENSP00000332931:I970V	I	-	1	0	SLC8A1	40195911	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.722000	0.47269	2.275000	0.75901	0.528000	0.53228	ATA		0.408	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		3	57	0	0	0	0.004672	0	3	57					C	40342407	T	C	40342407	3	2	380	1	0	0	0	0	1	0	0	0	14706	1464	51	3	17	3	SLC8A1	2	40342407	Missense_Mutation	SNP	T	TCGA-ET-A3BQ-01B-11D-A202-08		40342407	202856966	2	7921											
WIPF1	7456	broad.mit.edu	37	chr2	175436655	175436655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcggagtggaaggcactGgaggcttgttgttctgagga	18	7	1	1			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr2:175436655G>A	ENST00000392547.2	-	5	977	c.878C>T	c.(877-879)cCa>cTa	p.P293L	WIPF1_ENST00000467149.1_5'Flank|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409415.3_Missense_Mutation_p.P293L|WIPF1_ENST00000359761.3_Missense_Mutation_p.P293L|WIPF1_ENST00000392546.2_Missense_Mutation_p.P293L|WIPF1_ENST00000409891.1_Missense_Mutation_p.P293L|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.P293L	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	293	Pro-rich.				actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GGAAGGCACTGGAGGCTTGTT	0.672																																						ENST00000392547.2																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						c.(877-879)cCa>cTa		WAS/WASL interacting protein family, member 1							29	33	32					2																	175436655		2203	4300	6503	SO:0001583	missense	7456				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	g.chr2:175436655G>A	AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"Wiskott-Aldrich syndrome protein interacting protein"	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.878C>T	2.37:g.175436655G>A	ENSP00000376330:p.Pro293Leu					WIPF1_ENST00000409415.3_Missense_Mutation_p.P293L|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.P293L|WIPF1_ENST00000409891.1_Missense_Mutation_p.P293L|WIPF1_ENST00000359761.3_Missense_Mutation_p.P293L|WIPF1_ENST00000392546.2_Missense_Mutation_p.P293L|AC018890.6_ENST00000412835.1_RNA	p.P293L	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN			5	977	-			293			Pro-rich.		B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Missense_Mutation	SNP	ENST00000392547.2	37	c.878C>T	CCDS2260.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.312460	0.60414	.	.	ENSG00000115935	ENST00000392547;ENST00000272746;ENST00000359761;ENST00000392546;ENST00000409891;ENST00000409415	T;T;T;T;T;T	0.58652	0.99;1.0;0.99;0.99;0.32;0.84	4.38	4.38	0.52667	.	0.061457	0.64402	D	0.000003	T	0.74596	0.3737	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.996;0.998;0.996	T	0.76666	-0.2875	10	0.46703	T	0.11	.	16.5334	0.84366	0.0:0.0:1.0:0.0	.	293;293;293;293	O43516-3;E9PB87;O43516-2;O43516	.;.;.;WIPF1_HUMAN	L	293	ENSP00000376330:P293L;ENSP00000272746:P293L;ENSP00000352802:P293L;ENSP00000376329:P293L;ENSP00000386431:P293L;ENSP00000387150:P293L	ENSP00000272746:P293L	P	-	2	0	WIPF1	175144901	1.000000	0.71417	0.993000	0.49108	0.203000	0.24098	7.748000	0.85085	1.986000	0.57962	0.430000	0.28490	CCA		0.672	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387		3	22	0	0	0	0.000602	0	3	22					A	175436655	G	A	175436655	3	1	380	1	0	0	0	0	1	0	0	0	17364	1348	47	2	649	2	WIPF1	2	175436655	Missense_Mutation	SNP	G	TCGA-ET-A3BQ-01B-11D-A202-08	135094248	175436655	67762718	3	7922											
UBE2F	140739	broad.mit.edu	37	chr2	238939226	238939226	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaacattcaattgatggcaCtggctgggctcccacaagaa	10	10	1	3			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr2:238939226C>T	ENST00000272930.4	+	7	577	c.383C>T	c.(382-384)aCt>aTt	p.T128I	UBE2F_ENST00000409332.1_Missense_Mutation_p.T106I|RNU6-1333P_ENST00000516162.1_RNA|UBE2F_ENST00000409633.1_Missense_Mutation_p.T128I|UBE2F_ENST00000409953.1_Missense_Mutation_p.T104I|UBE2F_ENST00000414443.1_Missense_Mutation_p.T96I|UBE2F-SCLY_ENST00000449191.1_Intron	NM_001278305.1|NM_080678.2	NP_001265234.1|NP_542409.1	Q969M7	UBE2F_HUMAN	ubiquitin-conjugating enzyme E2F (putative)	128					protein neddylation (GO:0045116)		ATP binding (GO:0005524)|NEDD8 ligase activity (GO:0019788)			endometrium(1)|large_intestine(1)	2		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)		ATTGATGGCACTGGCTGGGCT	0.502																																						ENST00000272930.4																			0				endometrium(1)|large_intestine(1)	2						c.(382-384)aCt>aTt		ubiquitin-conjugating enzyme E2F (putative)							130	112	118					2																	238939226		2203	4300	6503	SO:0001583	missense	140739				protein neddylation		ATP binding|NEDD8 ligase activity|protein binding	g.chr2:238939226C>T	BC010549	CCDS2523.1, CCDS63175.1, CCDS63176.1, CCDS63177.1	2q37.3	2008-02-05	2005-12-15		ENSG00000184182	ENSG00000184182		"Ubiquitin-conjugating enzymes E2"	12480	protein-coding gene	gene with protein product	"NEDD8 conjugating enzyme"					12477932	Standard	NM_080678		Approved	NCE2	uc031rrz.1	Q969M7	OTTHUMG00000133341	ENST00000272930.4:c.383C>T	2.37:g.238939226C>T	ENSP00000272930:p.Thr128Ile					UBE2F_ENST00000409953.1_Missense_Mutation_p.T104I|UBE2F_ENST00000409633.1_Missense_Mutation_p.T128I|UBE2F-SCLY_ENST00000449191.1_Intron|UBE2F_ENST00000409332.1_Missense_Mutation_p.T106I|UBE2F_ENST00000414443.1_Missense_Mutation_p.T96I	p.T128I	NM_001278305.1|NM_080678.2	NP_001265234.1|NP_542409.1	Q969M7	UBE2F_HUMAN		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)	7	577	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	128					A8K1Z8|B4DDT9|B4DFI1|B4DMK3|B4DZU2|B8ZZG2|C9J212|H9KVB9	Missense_Mutation	SNP	ENST00000272930.4	37	c.383C>T	CCDS2523.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.315734	0.40996	.	.	ENSG00000184182	ENST00000272930;ENST00000448502;ENST00000416292;ENST00000409633;ENST00000414443;ENST00000409953;ENST00000409332;ENST00000434655;ENST00000434137	T;T;T;T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64	5.17	5.17	0.71159	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.049212	0.85682	D	0.000000	T	0.73560	0.3602	L	0.34521	1.04	0.44643	D	0.997623	B;B	0.30068	0.061;0.267	B;P	0.47864	0.068;0.559	T	0.73113	-0.4085	10	0.45353	T	0.12	-1.184	16.1839	0.81934	0.0:1.0:0.0:0.0	.	96;128	Q969M7-3;Q969M7	.;UBE2F_HUMAN	I	128;139;96;128;96;104;106;128;118	ENSP00000272930:T128I;ENSP00000390813:T96I;ENSP00000387299:T128I;ENSP00000399183:T96I;ENSP00000386680:T104I;ENSP00000387060:T106I;ENSP00000406113:T128I;ENSP00000414619:T118I	ENSP00000272930:T128I	T	+	2	0	UBE2F	238603965	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.171000	0.71926	2.419000	0.82065	0.655000	0.94253	ACT		0.502	UBE2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257171.2	NM_080678		8	18	0	0	0	0.004482	0	8	18					T	238939226	C	T	238939226	3	4	380	1	0	0	0	0	1	0	0	0	16852	565	20	2	405	2	UBE2F	2	238939226	Missense_Mutation	SNP	C	TCGA-ET-A3BQ-01B-11D-A202-08	63502571	238939226	4260147	4	7923											
CCDC39	339829	broad.mit.edu	37	chr3	180381735	180381735	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcttcatactcacgtaactCatcttgcaagcttgctcttt	4	13	6	0			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr3:180381735C>T	ENST00000442201.2	-	2	249	c.130G>A	c.(130-132)Gag>Aag	p.E44K	CCDC39_ENST00000273654.4_Missense_Mutation_p.E128K	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	44					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TCACGTAACTCATCTTGCAAG	0.333																																						ENST00000273654.4																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45						c.(382-384)Gag>Aag		coiled-coil domain containing 39							155	144	147					3																	180381735		1846	4108	5954	SO:0001583	missense	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180381735C>T	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.130G>A	3.37:g.180381735C>T	ENSP00000405708:p.Glu44Lys					CCDC39_ENST00000442201.2_Missense_Mutation_p.E44K	p.E128K			Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		8	1001	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		44					B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	c.382G>A	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.414176	0.25465	.	.	ENSG00000145075	ENST00000273654;ENST00000442201;ENST00000471307	T	0.79940	-1.32	6.07	4.25	0.50352	.	0.261298	0.44097	D	0.000491	T	0.66799	0.2826	N	0.13098	0.295	0.26601	N	0.973013	B	0.14438	0.01	B	0.17098	0.017	T	0.53229	-0.8468	10	0.27785	T	0.31	-11.5444	14.3314	0.66559	0.0:0.2868:0.7132:0.0	.	44	Q9UFE4	CCD39_HUMAN	K	128;44;26	ENSP00000418702:E26K	ENSP00000273654:E128K	E	-	1	0	CCDC39	181864429	0.999000	0.42202	0.792000	0.32020	0.226000	0.24999	1.157000	0.31724	0.872000	0.35775	-0.234000	0.12200	GAG		0.333	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		9	65	0	0	0	0.004482	0	9	65					T	180381735	C	T	180381735	3	4	380	1	0	0	0	0	1	0	0	0	2811	835	29	2	2771	2	CCDC39	3	180381735	Missense_Mutation	SNP	C	TCGA-ET-A3BQ-01B-11D-A202-08		180381735	17640695	5	7924											
MRFAP1L1	114932	broad.mit.edu	37	chr4	6711139	6711139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagggcgctctcctccgagGcctccacctgcgttttgatc	11	15	1	2			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr4:6711139G>A	ENST00000320848.6	-	1	468	c.218C>T	c.(217-219)gCc>gTc	p.A73V		NM_203462.2	NP_982287.1	Q96HT8	MR1L1_HUMAN	Morf4 family associated protein 1-like 1	73																	CTCCTCCGAGGCCTCCACCTG	0.602																																						ENST00000320848.6																			0											c.(217-219)gCc>gTc		Morf4 family associated protein 1-like 1							136	120	125					4																	6711139		2203	4300	6503	SO:0001583	missense	114932							g.chr4:6711139G>A	AF258591	CCDS3392.1	4p16.1	2008-02-05			ENSG00000178988	ENSG00000178988			28796	protein-coding gene	gene with protein product						12477932	Standard	NM_203462		Approved	MGC9651	uc003gjo.3	Q96HT8	OTTHUMG00000125507	ENST00000320848.6:c.218C>T	4.37:g.6711139G>A	ENSP00000318154:p.Ala73Val						p.A73V	NM_203462.2	NP_982287.1	Q96HT8	MR1L1_HUMAN			1	468	-			73					B2R6R0|Q6NXT8|Q9P0J5	Missense_Mutation	SNP	ENST00000320848.6	37	c.218C>T	CCDS3392.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.317269	0.40996	.	.	ENSG00000178988	ENST00000320848	.	.	.	2.57	1.71	0.24356	.	0.464806	0.13479	U	0.384841	T	0.31327	0.0793	L	0.29908	0.895	0.23271	N	0.998003	B	0.31209	0.313	B	0.35278	0.199	T	0.30001	-0.9993	9	0.87932	D	0	.	7.3635	0.26760	0.0:0.2724:0.7276:0.0	.	73	Q96HT8	MR1L1_HUMAN	V	73	.	ENSP00000318154:A73V	A	-	2	0	MRFAP1L1	6762040	1.000000	0.71417	0.996000	0.52242	0.044000	0.14063	2.662000	0.46766	0.626000	0.30322	-0.165000	0.13383	GCC		0.602	MRFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246834.1	NM_152301		6	162	0	0	0	0.001168	0	6	162					A	6711139	G	A	6711139	3	1	380	1	0	0	0	0	1	0	0	0	9762	1203	42	2	169	2	MRFAP1L1	4	6711139	Missense_Mutation	SNP	G	TCGA-ET-A3BQ-01B-11D-A202-08		6711139	184443137	6	7925											
MAPK10	5602	broad.mit.edu	37	chr4	87028402	87028402	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atggttcacacacttcatgaGgaccagctcccggtacgctc	9	14	2	1			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr4:87028402G>C	ENST00000359221.3	-	5	866	c.340C>G	c.(340-342)Ctc>Gtc	p.L114V	MAPK10_ENST00000513839.1_5'UTR|MAPK10_ENST00000395169.3_Missense_Mutation_p.L76V|MAPK10_ENST00000395157.3_5'UTR|MAPK10_ENST00000449047.2_5'UTR|MAPK10_ENST00000361569.2_Missense_Mutation_p.L114V|MAPK10_ENST00000395161.2_Missense_Mutation_p.L114V|MAPK10_ENST00000395166.1_Missense_Mutation_p.L76V|MAPK10_ENST00000395160.3_5'UTR			P53779	MK10_HUMAN	mitogen-activated protein kinase 10	114	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|JUN kinase activity (GO:0004705)|MAP kinase kinase activity (GO:0004708)			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		CACTTCATGAGGACCAGCTCC	0.433																																						ENST00000395169.3																			0				breast(1)|central_nervous_system(1)|stomach(1)	3						c.(226-228)Ctc>Gtc		mitogen-activated protein kinase 10							127	121	123					4																	87028402		2203	4300	6503	SO:0001583	missense	5602				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding	g.chr4:87028402G>C	U07620	CCDS3612.1, CCDS3613.1, CCDS34026.1, CCDS43247.1	4q22-q23	2011-06-09			ENSG00000109339	ENSG00000109339	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6872	protein-coding gene	gene with protein product		602897		PRKM10		8654373, 12436199	Standard	NM_002753		Approved	JNK3, p493F12, p54bSAPK	uc003hpt.3	P53779	OTTHUMG00000130604	ENST00000359221.3:c.340C>G	4.37:g.87028402G>C	ENSP00000352157:p.Leu114Val					MAPK10_ENST00000395157.3_5'UTR|MAPK10_ENST00000359221.3_Missense_Mutation_p.L114V|MAPK10_ENST00000395166.1_Missense_Mutation_p.L76V|MAPK10_ENST00000513839.1_5'UTR|MAPK10_ENST00000395161.2_Missense_Mutation_p.L114V|MAPK10_ENST00000395160.3_5'UTR|MAPK10_ENST00000361569.2_Missense_Mutation_p.L114V|MAPK10_ENST00000449047.2_5'UTR	p.L76V	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.002)	5	946	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)	114			Protein kinase.		A6NFS3|A6NG28|B3KQ94|Q15707|Q49AP1	Missense_Mutation	SNP	ENST00000359221.3	37	c.226C>G	CCDS34026.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.5|28.5	4.927042|4.927042	0.92389|0.92389	.|.	.|.	ENSG00000109339|ENSG00000109339	ENST00000395169;ENST00000359221;ENST00000361569;ENST00000395166;ENST00000395161;ENST00000512017;ENST00000512564;ENST00000511167;ENST00000511328|ENST00000515400	T;T;T;T;T;T;T;T;T|.	0.64803|.	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12|.	5.9|5.9	5.9|5.9	0.94986|0.94986	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58566|0.58566	0.2131|0.2131	L|L	0.27975|0.27975	0.815|0.815	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.999;0.972|.	D;D;D|.	0.91635|.	0.999;0.999;0.91|.	T|T	0.50311|0.50311	-0.8843|-0.8843	10|5	0.87932|.	D|.	0|.	-13.8171|-13.8171	20.2787|20.2787	0.98501|0.98501	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	76;114;114|.	P53779-3;P53779-2;P53779|.	.;.;MK10_HUMAN|.	V|R	76;114;114;76;114;114;76;114;114|26	ENSP00000378598:L76V;ENSP00000352157:L114V;ENSP00000355297:L114V;ENSP00000378595:L76V;ENSP00000378590:L114V;ENSP00000424755:L114V;ENSP00000422985:L76V;ENSP00000422277:L114V;ENSP00000421762:L114V|.	ENSP00000309857:L114V|.	L|P	-|-	1|2	0|0	MAPK10|MAPK10	87247426|87247426	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.869000|9.869000	0.99810|0.99810	2.798000|2.798000	0.96311|0.96311	0.650000|0.650000	0.86243|0.86243	CTC|CCT		0.433	MAPK10-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361363.2			3	75	0	0	0	0.000602	0	3	75					C	87028402	G	C	87028402	3	2	380	1	0	0	0	0	1	0	0	0	9272	1000	35	4	1099	4	MAPK10	4	87028402	Missense_Mutation	SNP	G	TCGA-ET-A3BQ-01B-11D-A202-08	80317263	87028402	104125874	7	7926											
FAM153B	202134	broad.mit.edu	37	chr5	175530270	175530270	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggagctgtccagttacaaCggcgaggaggaggacccaga	15	10	0	1	rs367572504		TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr5:175530270C>A	ENST00000253490.4	+	13	762	c.705C>A	c.(703-705)aaC>aaA	p.N235K	FAM153B_ENST00000512862.1_Intron|FAM153B_ENST00000515817.1_Missense_Mutation_p.N158K|FAM153B_ENST00000510151.1_Missense_Mutation_p.N158K			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	235										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		CCAGTTACAACGGCGAGGAGG	0.448																																						ENST00000253490.4																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16						c.(703-705)aaC>aaA		family with sequence similarity 153, member B							293	301	298					5																	175530270		2203	4300	6503	SO:0001583	missense	202134							g.chr5:175530270C>A	AK055006	CCDS43401.1, CCDS43401.2	5q35.2	2010-05-12			ENSG00000182230	ENSG00000182230			27323	protein-coding gene	gene with protein product							Standard	NM_001265615		Approved		uc031smb.1	P0C7A2	OTTHUMG00000163181	ENST00000253490.4:c.705C>A	5.37:g.175530270C>A	ENSP00000253490:p.Asn235Lys					FAM153B_ENST00000515817.1_Missense_Mutation_p.N158K|FAM153B_ENST00000512862.1_Intron|FAM153B_ENST00000510151.1_Missense_Mutation_p.N158K	p.N235K			P0C7A2	F153B_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)	13	762	+	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	235					A8MTI1	Missense_Mutation	SNP	ENST00000253490.4	37	c.705C>A		.	.	.	.	.	.	.	.	.	.	C	9.538	1.112649	0.20795	.	.	ENSG00000182230	ENST00000515817;ENST00000253490	.	.	.	1.26	-1.25	0.09405	.	.	.	.	.	T	0.18257	0.0438	N	0.14661	0.345	0.09310	N	1	B	0.18610	0.029	B	0.20384	0.029	T	0.20438	-1.0275	8	0.54805	T	0.06	.	3.5061	0.07691	0.0:0.396:0.3535:0.2505	.	235	P0C7A2	F153B_HUMAN	K	158;235	.	ENSP00000253490:N235K	N	+	3	2	FAM153B	175462876	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.805000	0.00758	-0.438000	0.07232	-1.250000	0.01514	AAC		0.448	FAM153B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001079529		58	271	1	0	1.48005e-37	0.00361	3.43371e-37	58	271					A	175530270	C	A	175530270	3	1	380	1	0	0	0	0	1	0	0	0	5461	535	19	4	755	4	FAM153B	5	175530270	Missense_Mutation	SNP	C	TCGA-ET-A3BQ-01B-11D-A202-08		175530270	5384990	8	7927											
FAM153A	285596	broad.mit.edu	37	chr5	177161894	177161894	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgggtcctcctcctcaccGttgtaactggacagctcctg	9	15	2	0			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr5:177161894G>T	ENST00000440605.3	-	12	757	c.474C>A	c.(472-474)aaC>aaA	p.N158K	FAM153A_ENST00000513554.1_Intron|FAM153A_ENST00000393518.3_Intron|FAM153A_ENST00000510276.1_Missense_Mutation_p.N158K	NM_173663.3	NP_775934.3	Q9UHL3	F153A_HUMAN	family with sequence similarity 153, member A	158										kidney(6)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	11	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)			CCTCCTCACCGTTGTAACTGG	0.443																																						ENST00000440605.3																			0				kidney(6)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	11						c.(472-474)aaC>aaA		family with sequence similarity 153, member A							18	15	16					5																	177161894		2158	4261	6419	SO:0001583	missense	285596							g.chr5:177161894G>T	AB018295	CCDS34305.1	5q35.3	2010-05-12			ENSG00000170074	ENSG00000170074			29940	protein-coding gene	gene with protein product	"NY REN 7 antigen"					10508479, 9872452	Standard	NM_173663		Approved	NY-REN-7	uc003mic.3	Q9UHL3	OTTHUMG00000163394	ENST00000440605.3:c.474C>A	5.37:g.177161894G>T	ENSP00000411506:p.Asn158Lys					FAM153A_ENST00000510276.1_Missense_Mutation_p.N158K|FAM153A_ENST00000393518.3_Intron|FAM153A_ENST00000513554.1_Intron	p.N158K	NM_173663.3	NP_775934.3	Q9UHL3	F153A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		12	757	-	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)	158					A8K0F3|O94852	Missense_Mutation	SNP	ENST00000440605.3	37	c.474C>A	CCDS34305.1	.	.	.	.	.	.	.	.	.	.	.	9.449	1.090102	0.20390	.	.	ENSG00000170074	ENST00000440977;ENST00000510276;ENST00000440605	.	.	.	1.27	-1.48	0.08745	.	.	.	.	.	T	0.23289	0.0563	N	0.14661	0.345	0.09310	N	1	P	0.47409	0.895	P	0.54100	0.742	T	0.12451	-1.0547	8	0.59425	D	0.04	.	2.4696	0.04561	0.0:0.4154:0.3066:0.278	.	158	Q9UHL3	F153A_HUMAN	K	235;158;158	.	ENSP00000353887:N158K	N	-	3	2	FAM153A	177094500	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-2.501000	0.00966	-0.423000	0.07394	-1.538000	0.00913	AAC		0.443	FAM153A-022	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417242.1	NM_173663		7	15	1	0	0.000274275	0.004482	0.000589184	7	15					T	177161894	G	T	177161894	3	4	380	1	0	0	0	0	1	0	0	0	5460	1136	40	4	494	4	FAM153A	5	177161894	Missense_Mutation	SNP	G	TCGA-ET-A3BQ-01B-11D-A202-08	1631624	177161894	3753366	9	7928											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		39	56	0	0	0	0.00874	0	39	56					T	140453136	A	T	140453136	3	4	380	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A3BQ-01B-11D-A202-08		140453136	18685527	10	7929											
ASB10	136371	broad.mit.edu	37	chr7	150878358	150878358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgatggactggcagcggaCgtcacaggcagccagcagtg	17	10	1	1			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr7:150878358C>T	ENST00000420175.2	-	3	796	c.772G>A	c.(772-774)Gtc>Atc	p.V258I	ASB10_ENST00000422024.1_Missense_Mutation_p.V303I|ASB10_ENST00000434669.1_Missense_Mutation_p.V303I|ASB10_ENST00000275838.1_Missense_Mutation_p.V258I|ASB10_ENST00000377867.3_Missense_Mutation_p.V243I			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	258					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGCAGCGGACGTCACAGGCA	0.647																																						ENST00000422024.1																			0				NS(1)|endometrium(2)|lung(7)|skin(2)	12						c.(907-909)Gtc>Atc		ankyrin repeat and SOCS box containing 10							34	35	35					7																	150878358		2203	4296	6499	SO:0001583	missense	136371				intracellular signal transduction			g.chr7:150878358C>T	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"Ankyrin repeat domain containing"	17185	protein-coding gene	gene with protein product		615054	"ankyrin repeat and SOCS box-containing 10", "glaucoma 1, open angle, F (adult-onset)"	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.772G>A	7.37:g.150878358C>T	ENSP00000391137:p.Val258Ile					ASB10_ENST00000275838.1_Missense_Mutation_p.V258I|ASB10_ENST00000420175.2_Missense_Mutation_p.V258I|ASB10_ENST00000434669.1_Missense_Mutation_p.V303I|ASB10_ENST00000377867.3_Missense_Mutation_p.V243I	p.V303I	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1032	-			258					A0AVH0|Q6ZUL6	Missense_Mutation	SNP	ENST00000420175.2	37	c.907G>A	CCDS47750.2	.	.	.	.	.	.	.	.	.	.	C	2.073	-0.412622	0.04799	.	.	ENSG00000146926	ENST00000275838;ENST00000377867;ENST00000422024;ENST00000434669;ENST00000420175	T;T;T;T;T	0.66460	-0.21;-0.16;-0.15;-0.18;-0.18	5.24	-7.91	0.01165	Ankyrin repeat-containing domain (3);	1.167680	0.06017	N	0.650686	T	0.44244	0.1284	N	0.05554	-0.025	0.09310	N	1	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.10450	0.001;0.005;0.001	T	0.37596	-0.9699	10	0.37606	T	0.19	1.0133	14.6419	0.68732	0.0758:0.7497:0.0818:0.0927	.	243;258;303	Q8WXI3-3;Q8WXI3;D5MNW9	.;ASB10_HUMAN;.	I	258;243;303;303;258	ENSP00000275838:V258I;ENSP00000367098:V243I;ENSP00000401369:V303I;ENSP00000398247:V303I;ENSP00000391137:V258I	ENSP00000275838:V258I	V	-	1	0	ASB10	150509291	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.267000	0.08619	-1.837000	0.01189	-1.851000	0.00568	GTC		0.647	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	NM_080871		7	19	0	0	0	0.00308	0	7	19					T	150878358	C	T	150878358	3	4	380	1	0	0	0	0	1	0	0	0	1014	536	19	1	643	1	ASB10	7	150878358	Missense_Mutation	SNP	C	TCGA-ET-A3BQ-01B-11D-A202-08	10425222	150878358	8260305	11	7930											
IL2RA	3559	broad.mit.edu	37	chr10	6061871	6061871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaagtctcactctcaggaCggccttcggggcttgcctga	13	12	2	1			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr10:6061871C>T	ENST00000379959.3	-	5	790	c.617G>A	c.(616-618)cGt>cAt	p.R206H	SNORA14_ENST00000516113.1_RNA|IL2RA_ENST00000256876.6_Missense_Mutation_p.R197H|IL2RA_ENST00000379954.1_Missense_Mutation_p.R134H	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	206					activation-induced cell death of T cells (GO:0006924)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of defense response to virus (GO:0050687)|negative regulation of immune response (GO:0050777)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell proliferation (GO:0042130)|Notch signaling pathway (GO:0007219)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of T cell differentiation (GO:0045582)|regulation of T cell homeostatic proliferation (GO:0046013)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|interleukin-2 receptor activity (GO:0004911)			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	ACTCTCAGGACGGCCTTCGGG	0.597																																						ENST00000379959.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(616-618)cGt>cAt		interleukin 2 receptor, alpha	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						125	110	115					10																	6061871		2203	4300	6503	SO:0001583	missense	3559				cell proliferation	integral to membrane	interleukin-2 receptor activity	g.chr10:6061871C>T	X01057	CCDS7076.1	10p15-p14	2014-09-17			ENSG00000134460	ENSG00000134460		"Interleukins and interleukin receptors", "CD molecules"	6008	protein-coding gene	gene with protein product		147730	"insulin-dependent diabetes mellitus 10"	IL2R, IDDM10		3925551, 17676041	Standard	NM_000417		Approved	CD25	uc001iiz.2	P01589	OTTHUMG00000017616	ENST00000379959.3:c.617G>A	10.37:g.6061871C>T	ENSP00000369293:p.Arg206His					IL2RA_ENST00000256876.6_Missense_Mutation_p.R197H|IL2RA_ENST00000379954.1_Missense_Mutation_p.R134H	p.R206H	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN			5	790	-			206					Q5W007	Missense_Mutation	SNP	ENST00000379959.3	37	c.617G>A	CCDS7076.1	.	.	.	.	.	.	.	.	.	.	C	9.378	1.072145	0.20147	.	.	ENSG00000134460	ENST00000379959;ENST00000379954;ENST00000256876	T;T;T	0.44482	1.51;0.92;1.51	3.59	-4.44	0.03557	.	2.559910	0.01159	N	0.006616	T	0.20618	0.0496	N	0.08118	0	0.09310	N	1	B;B	0.19935	0.04;0.0	B;B	0.12156	0.007;0.0	T	0.09574	-1.0668	10	0.40728	T	0.16	-6.0987	3.5462	0.07829	0.1727:0.1546:0.521:0.1518	.	134;206	Q5W005;P01589	.;IL2RA_HUMAN	H	206;134;197	ENSP00000369293:R206H;ENSP00000369287:R134H;ENSP00000256876:R197H	ENSP00000256876:R197H	R	-	2	0	IL2RA	6101877	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.274000	0.08537	-0.962000	0.03604	-1.717000	0.00709	CGT		0.597	IL2RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046627.1	NM_000417		4	85	0	0	0	0.000602	0	4	85					T	6061871	C	T	6061871	3	4	380	1	0	0	0	0	1	0	0	0	7686	536	19	1	217	1	IL2RA	10	6061871	Missense_Mutation	SNP	C	TCGA-ET-A3BQ-01B-11D-A202-08		6061871	129472876	12	7931											
SVIL	6840	broad.mit.edu	37	chr10	29769508	29769508	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccacttgaccacataggcatCcccctcatggaactgcccga	7	17	1	1			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr10:29769508C>A	ENST00000355867.4	-	29	6087	c.5335G>T	c.(5335-5337)Gat>Tat	p.D1779Y	SVIL_ENST00000375398.2_Missense_Mutation_p.D1779Y|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.D693Y|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000460007.1_5'UTR|SVIL_ENST00000375400.3_Missense_Mutation_p.D1353Y|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000538146.1_Missense_Mutation_p.D571Y	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1779					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)				ACATAGGCATCCCCCTCATGG	0.557																																						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.(5335-5337)Gat>Tat		supervillin							105	95	99					10																	29769508		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29769508C>A	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.5335G>T	10.37:g.29769508C>A	ENSP00000348128:p.Asp1779Tyr					SVIL_ENST00000355867.4_Missense_Mutation_p.D1779Y|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000538146.1_Missense_Mutation_p.D571Y|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.D693Y|SVIL_ENST00000375400.3_Missense_Mutation_p.D1353Y|SVIL_ENST00000460007.1_5'UTR	p.D1779Y			O95425	SVIL_HUMAN			31	5784	-		Breast(68;0.103)	1779					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.5335G>T	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.581121	0.86748	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994;ENST00000538146	T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.91	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.68229	0.2978	H	0.95780	3.72	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.99;0.991;0.98	T	0.80214	-0.1475	10	0.87932	D	0	-28.0546	17.4706	0.87645	0.0:1.0:0.0:0.0	.	693;571;1353;1779	F5H2Q5;F5GXV0;O95425-2;O95425	.;.;.;SVIL_HUMAN	Y	1353;1779;1779;693;733;571	ENSP00000364549:D1353Y;ENSP00000364547:D1779Y;ENSP00000348128:D1779Y;ENSP00000445472:D693Y;ENSP00000440343:D571Y	ENSP00000348128:D1779Y	D	-	1	0	SVIL	29809514	1.000000	0.71417	0.988000	0.46212	0.988000	0.76386	7.559000	0.82265	2.337000	0.79520	0.561000	0.74099	GAT		0.557	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			29	46	1	0	3.80469e-20	0.001786	8.48739e-20	29	46					A	29769508	C	A	29769508	3	1	380	1	0	0	0	0	1	0	0	0	15418	855	30	4	1349	4	SVIL	10	29769508	Missense_Mutation	SNP	C	TCGA-ET-A3BQ-01B-11D-A202-08	23707637	29769508	105765239	13	7932											
COMTD1	118881	broad.mit.edu	37	chr10	76994748	76994748	+	Frame_Shift_Del	DEL	G	G	-													tcgatcttgtgctccgcctcGgcctgcggagggagcgggtc							TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr10:76994748delG	ENST00000372538.3	-	5	532	c.450delC	c.(448-450)gccfs	p.A150fs	COMTD1_ENST00000460899.1_5'UTR	NM_144589.2	NP_653190.2	Q86VU5	CMTD1_HUMAN	catechol-O-methyltransferase domain containing 1	150						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	O-methyltransferase activity (GO:0008171)			central_nervous_system(1)|large_intestine(1)|lung(1)	3	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)					GCTCCGCCTCGGCCTGCGGAG	0.697																																					Colon(106;1192 2596 47278)	ENST00000372538.3																			0				central_nervous_system(1)|large_intestine(1)|lung(1)	3						c.(448-450)gcfs		catechol-O-methyltransferase domain containing 1							10	8	9					10																	76994748		1912	3682	5594	SO:0001589	frameshift_variant	118881					integral to membrane	O-methyltransferase activity	g.chr10:76994748delG		CCDS7349.1	10q22.2	2013-09-20			ENSG00000165644	ENSG00000165644			26309	protein-coding gene	gene with protein product						12975309	Standard	NM_144589		Approved	FLJ23841	uc001jxb.3	Q86VU5	OTTHUMG00000018518	ENST00000372538.3:c.450delC	10.37:g.76994748delG	ENSP00000361616:p.Ala150fs					COMTD1_ENST00000460899.1_5'UTR	p.A150fs	NM_144589.2	NP_653190.2	Q86VU5	CMTD1_HUMAN			5	532	-	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)		150					Q8TE79	Frame_Shift_Del	DEL	ENST00000372538.3	37	c.450delC	CCDS7349.1																																																																																				0.697	COMTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048802.1	NM_144589		2	4						2	4	---	---	---	---	-	76994748	G	-	76994748	7	5	380	1	0	1	0	1	0	0	0	0	3726	1103	39	0	350	0	COMTD1	10	76994748	Frame_Shift_Del	DEL	G	TCGA-ET-A3BQ-01B-11D-A202-08	47225240	76994748	58539999	14	7933											
INPP5F	79892	broad.mit.edu	37	chr10	121586793	121586794	+	IGR	DEL	CA	CA	-													ccacagatttgtgcaagatgCacagaacaaagtgacccacc							TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr10:121586793_121586794delCA	ENST00000360003.3	-	0	4113				INPP5F_ENST00000361976.2_Frame_Shift_Del_p.A967fs|INPP5F_ENST00000369080.3_Frame_Shift_Del_p.A357fs	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein						DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						GTGCAAGATGCACAGAACAAAG	0.436																																						ENST00000361976.2																			0				breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(2899-2901)gfs		inositol polyphosphate-5-phosphatase F																																				SO:0001628	intergenic_variant	22876						phosphoric ester hydrolase activity	g.chr10:121586793_121586794delCA	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"chromosome 10 open reading frame 119"	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159		10.37:g.121586795_121586796delCA						INPP5F_ENST00000369080.3_Frame_Shift_Del_p.A357fs	p.A967fs	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	20	3066_3067	+		Lung NSC(174;0.109)|all_lung(145;0.142)	967					B3KSP7|Q6IA56|Q9BVT9|Q9H916	Frame_Shift_Del	DEL	ENST00000360003.3	37	c.2900_2901delCA	CCDS7617.1																																																																																				0.436	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		11	75						11	75	---	---	---	---	-	121586794	CA	-	121586793	6	5	380	0	1	1	0	1	0	0	0	0	7758	710	25	0		0	INPP5F	10	121586793	IGR	DEL	CA	TCGA-ET-A3BQ-01B-11D-A202-08	44592045	121586793	13947954	15	7934											
FLJ10357	55701	broad.mit.edu	37	chr14	21542856	21542856	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgagtctcccccaggagctGaggctgtcccagaggcagca	13	14	1	3	rs371889536		TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr14:21542856G>A	ENST00000298694.4	+	3	1094	c.967G>A	c.(967-969)Gag>Aag	p.E323K	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.E323K			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	323	Gly-rich.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CCCAGGAGCTGAGGCTGTCCC	0.692																																						ENST00000298694.4																			0				large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						c.(967-969)Gag>Aag		Rho guanine nucleotide exchange factor (GEF) 40							13	15	14					14																	21542856		2190	4285	6475	SO:0001583	missense	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21542856G>A		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"Rho guanine nucleotide exchange factors"	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.967G>A	14.37:g.21542856G>A	ENSP00000298694:p.Glu323Lys					ARHGEF40_ENST00000298693.3_Missense_Mutation_p.E323K	p.E323K			Q8TER5	ARH40_HUMAN			3	1094	+			323			Gly-rich.		A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Missense_Mutation	SNP	ENST00000298694.4	37	c.967G>A	CCDS32041.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.475813	0.44044	.	.	ENSG00000165801	ENST00000298694;ENST00000555038;ENST00000298693	T;T	0.02369	4.38;4.32	5.12	4.23	0.50019	.	0.000000	0.48767	D	0.000168	T	0.04907	0.0132	L	0.27053	0.805	0.09310	N	0.999992	P;D	0.54964	0.634;0.969	B;P	0.56278	0.168;0.795	T	0.35699	-0.9778	10	0.45353	T	0.12	.	8.5756	0.33597	0.1023:0.0:0.8977:0.0	.	323;323	Q8TER5;G3V3N2	ARH40_HUMAN;.	K	323	ENSP00000298694:E323K;ENSP00000298693:E323K	ENSP00000298693:E323K	E	+	1	0	ARHGEF40	20612696	0.116000	0.22171	0.987000	0.45799	0.420000	0.31355	3.116000	0.50399	2.395000	0.81488	0.561000	0.74099	GAG		0.692	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			4	10	0	0	0	0.000248	0	4	10					A	21542856	G	A	21542856	3	1	380	1	0	0	0	0	1	0	0	0	5926	1291	45	2	977	2	FLJ10357	14	21542856	Missense_Mutation	SNP	G	TCGA-ET-A3BQ-01B-11D-A202-08		21542856	85806684	16	7935											
B3GNTL1	146712	broad.mit.edu	37	chr17	80923589	80923589	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcgcgagcagaaccaggtggGcatgatcaccgtggggccat	15	11	1	2			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr17:80923589G>C	ENST00000320865.3	-	7	551	c.538C>G	c.(538-540)Ccc>Gcc	p.P180A	B3GNTL1_ENST00000571954.1_5'UTR|B3GNTL1_ENST00000576599.1_Missense_Mutation_p.P69A	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	180							transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			AACCAGGTGGGCATGATCACC	0.552																																						ENST00000576599.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8						c.(205-207)Ccc>Gcc		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1							66	58	60					17																	80923589		2203	4300	6503	SO:0001583	missense	146712						transferase activity, transferring glycosyl groups	g.chr17:80923589G>C	AY634364	CCDS32778.1	17q25.3	2013-02-22	2004-01-13	2004-01-14	ENSG00000175711	ENSG00000175711		"Glycosyltransferase family 2 domain containing"	21727	protein-coding gene	gene with protein product		615337					Standard	NM_001009905		Approved	B3GNT8	uc002kgg.1	Q67FW5	OTTHUMG00000177788	ENST00000320865.3:c.538C>G	17.37:g.80923589G>C	ENSP00000319979:p.Pro180Ala					B3GNTL1_ENST00000320865.3_Missense_Mutation_p.P180A|B3GNTL1_ENST00000571954.1_5'UTR	p.P69A			Q67FW5	B3GNL_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)		7	955	-	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	180					Q6GV30|Q8WUT3	Missense_Mutation	SNP	ENST00000320865.3	37	c.205C>G	CCDS32778.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128925	0.77549	.	.	ENSG00000175711	ENST00000320865	T	0.61040	0.14	4.83	4.83	0.62350	Glycosyl transferase, family 2 (1);	0.060319	0.64402	D	0.000002	T	0.77432	0.4129	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79811	-0.1646	9	.	.	.	-23.0224	15.7877	0.78319	0.0:0.0:1.0:0.0	.	180	Q67FW5	B3GNL_HUMAN	A	180	ENSP00000319979:P180A	.	P	-	1	0	B3GNTL1	78516878	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	7.646000	0.83445	2.428000	0.82296	0.462000	0.41574	CCC		0.552	B3GNTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438949.1	NM_001009905		10	12	0	0	0	0.003163	0	10	12					C	80923589	G	C	80923589	3	2	380	1	0	0	0	0	1	0	0	0	1265	1203	42	4	571	4	B3GNTL1	17	80923589	Missense_Mutation	SNP	G	TCGA-ET-A3BQ-01B-11D-A202-08		80923589	271621	17	7936											
YDJC	150223	broad.mit.edu	37	chr22	21982797	21982797	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtccaggtcgtcgagggcGcaaagctgcacgccatcctg	14	13	0	0			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr22:21982797G>A	ENST00000292778.6	-	5	931	c.882C>T	c.(880-882)tgC>tgT	p.C294C	YDJC_ENST00000398873.3_3'UTR	NM_001017964.1	NP_001017964.1	A8MPS7	YDJC_HUMAN	YdjC homolog (bacterial)	294					carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)					Colorectal(54;0.105)					CGTCGAGGGCGCAAAGCTGCA	0.667																																						ENST00000292778.6																			0											c.(880-882)tgC>tgT		YdjC homolog (bacterial)							48	50	49					22																	21982797		2203	4300	6503	SO:0001819	synonymous_variant	150223				carbohydrate metabolic process		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds	g.chr22:21982797G>A		CCDS33613.1	22q11.21	2008-02-26			ENSG00000161179	ENSG00000161179			27158	protein-coding gene	gene with protein product						18177738	Standard	XM_005261347		Approved		uc002zvb.2	A8MPS7	OTTHUMG00000150822	ENST00000292778.6:c.882C>T	22.37:g.21982797G>A						YDJC_ENST00000398873.3_3'UTR	p.C294C	NM_001017964.1	NP_001017964.1	A8MPS7	YDJC_HUMAN			5	931	-	Colorectal(54;0.105)		294					Q2YDT4|Q4V9R7	Silent	SNP	ENST00000292778.6	37	c.882C>T	CCDS33613.1																																																																																				0.667	YDJC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320213.1			4	54	0	0	0	0.000248	0	4	54					A	21982797	G	A	21982797	2	1	380	1	0	0	0	0	0	0	0	1	17468	1079	38	1		1	YDJC	22	21982797	Silent	SNP	G	TCGA-ET-A3BQ-01B-11D-A202-08		21982797	29321769	18	7937											
ARMCX1	51309	broad.mit.edu	37	chrX	100808364	100808364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccaggaggcaggggtggaGgctgccaccccaccaggagt	17	13	0	0			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chrX:100808364G>A	ENST00000372829.3	+	4	822	c.451G>A	c.(451-453)Ggc>Agc	p.G151S		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	151						integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						CAGGGGTGGAGGCTGCCACCC	0.617																																						ENST00000372829.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						c.(451-453)Ggc>Agc		armadillo repeat containing, X-linked 1							53	53	53					X																	100808364		2202	4299	6501	SO:0001583	missense	51309					integral to membrane	binding	g.chrX:100808364G>A	AB039670	CCDS14487.1	Xq21.33-q22.2	2014-03-21			ENSG00000126947	ENSG00000126947		"Armadillo repeat containing"	18073	protein-coding gene	gene with protein product		300362				11162520, 16221301, 22569362	Standard	NM_016608		Approved	ALEX1, GASP7	uc004ehv.3	Q9P291	OTTHUMG00000022033	ENST00000372829.3:c.451G>A	X.37:g.100808364G>A	ENSP00000361917:p.Gly151Ser						p.G151S	NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN			4	822	+			151					Q53HK2|Q9H2Q0	Missense_Mutation	SNP	ENST00000372829.3	37	c.451G>A	CCDS14487.1	.	.	.	.	.	.	.	.	.	.	g	16.00	2.998410	0.54147	.	.	ENSG00000126947	ENST00000372829	T	0.38240	1.15	3.86	2.08	0.27032	.	0.654108	0.13245	N	0.402557	T	0.19967	0.0480	N	0.24115	0.695	0.29020	N	0.886337	B	0.24882	0.113	B	0.20577	0.03	T	0.21449	-1.0245	10	0.21540	T	0.41	-1.4967	5.1178	0.14845	0.2772:0.0:0.7228:0.0	.	151	Q9P291	ARMX1_HUMAN	S	151	ENSP00000361917:G151S	ENSP00000361917:G151S	G	+	1	0	ARMCX1	100695020	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.493000	0.35605	0.419000	0.25927	0.556000	0.70494	GGC		0.617	ARMCX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057561.1	NM_016608		4	141	0	0	0	0.000248	0	4	141					A	100808364	G	A	100808364	3	1	380	1	0	0	0	0	1	0	0	0	959	1000	35	2	453	2	ARMCX1	23	100808364	Missense_Mutation	SNP	G	TCGA-ET-A3BQ-01B-11D-A202-08		100808364	54462196	19	7938											
FLNA	2316	broad.mit.edu	37	chrX	153585851	153585851	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggcacggcacgcacgcgGtacggggagaaggggatctc	19	10	1	1			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chrX:153585851G>A	ENST00000369850.3	-	29	5132	c.4896C>T	c.(4894-4896)taC>taT	p.Y1632Y	FLNA_ENST00000369856.3_5'UTR|FLNA_ENST00000360319.4_Silent_p.Y1632Y|FLNA_ENST00000422373.1_Silent_p.Y1632Y|FLNA_ENST00000344736.4_Silent_p.Y1632Y	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1632					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CACGCACGCGGTACGGGGAGA	0.657																																						ENST00000422373.1																			0				breast(6)	6						c.(4894-4896)taC>taT		filamin A, alpha							109	103	105					X																	153585851		2159	4231	6390	SO:0001819	synonymous_variant	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153585851G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.4896C>T	X.37:g.153585851G>A						FLNA_ENST00000369856.3_5'UTR|FLNA_ENST00000360319.4_Silent_p.Y1632Y|FLNA_ENST00000369850.3_Silent_p.Y1632Y|FLNA_ENST00000344736.4_Silent_p.Y1632Y	p.Y1632Y	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			29	5144	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1632					E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.4896C>T	CCDS48194.1																																																																																				0.657	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			3	43	0	0	0	0.004672	0	3	43					A	153585851	G	A	153585851	2	1	380	1	0	0	0	0	0	0	0	1	5933	1256	44	2		2	FLNA	23	153585851	Silent	SNP	G	TCGA-ET-A3BQ-01B-11D-A202-08	52777487	153585851	1684709	20	7939											
MAST2	23139	broad.mit.edu	37	chr1	46501483	46501483	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctagtgcccccagactggcCcatccatcttatgaggatcc	8	16	1	2			TCGA-ET-A3BS-01A-11D-A202-08	TCGA-ET-A3BS-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f353a576-14db-4817-9ac8-64d6328adab8	6d88ce09-4e88-4449-a114-ad99a7f5f873	g.chr1:46501483C>T	ENST00000361297.2	+	29	5425	c.5142C>T	c.(5140-5142)gcC>gcT	p.A1714A	MAST2_ENST00000372009.2_Silent_p.A1524A	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)					CCAGACTGGCCCATCCATCTT	0.577																																						ENST00000361297.2																			0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(5140-5142)gcC>gcT		microtubule associated serine/threonine kinase 2							57	65	63					1																	46501483		1966	4150	6116	SO:0001819	synonymous_variant	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.chr1:46501483C>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.5142C>T	1.37:g.46501483C>T						MAST2_ENST00000372008.1_Intron|MAST2_ENST00000372009.2_Silent_p.A1524A	p.A1714A	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN			29	5425	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		1714						Silent	SNP	ENST00000361297.2	37	c.5142C>T	CCDS41326.1																																																																																				0.577	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		4	85	0	0	0	0.150653	0	4	85					T	46501483	C	T	46501483	2	4	381	1	0	0	0	0	0	0	0	1	9325	610	22	2		2	MAST2	1	46501483	Silent	SNP	C	TCGA-ET-A3BS-01A-11D-A202-08		46501483	202749138	1	7940											
RGS21	431704	broad.mit.edu	37	chr1	192321267	192321267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgaagactttaagaaaaCgaaaaatgcagacaaaattg	8	5	0	4	rs369430749		TCGA-ET-A3BS-01A-11D-A202-08	TCGA-ET-A3BS-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f353a576-14db-4817-9ac8-64d6328adab8	6d88ce09-4e88-4449-a114-ad99a7f5f873	g.chr1:192321267C>T	ENST00000417209.2	+	4	353	c.179C>T	c.(178-180)aCg>aTg	p.T60M		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	60	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						TTTAAGAAAACGAAAAATGCA	0.348													C|||	1	0.000199681	8e-04	0	5008	,	,		16349	0		0	False		,,,				2504	0					ENST00000417209.2																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						c.(178-180)aCg>aTg		regulator of G-protein signaling 21		C	MET/THR	0,3690		0,0,1845	67	64	65		179	5.8	1.0	1		65	1,8223		0,1,4111	no	missense	RGS21	NM_001039152.3	81	0,1,5956	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging	60/153	192321267	1,11913	1845	4112	5957	SO:0001583	missense	431704				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192321267C>T	AY643711	CCDS41448.1	1q31.2	2013-09-24	2007-08-14		ENSG00000253148	ENSG00000253148		"Regulators of G-protein signaling"	26839	protein-coding gene	gene with protein product		612407	"regulator of G-protein signalling 21"			15066150	Standard	NM_001039152		Approved		uc001gsh.3	Q2M5E4	OTTHUMG00000035594	ENST00000417209.2:c.179C>T	1.37:g.192321267C>T	ENSP00000428343:p.Thr60Met						p.T60M	NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN			4	353	+			60			RGS.			Missense_Mutation	SNP	ENST00000417209.2	37	c.179C>T	CCDS41448.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.288527	0.59976	0.0	1.22E-4	ENSG00000253148	ENST00000417209	T	0.29655	1.56	5.77	5.77	0.91146	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.34828	U	0.003657	T	0.49064	0.1535	L	0.46885	1.475	0.34163	D	0.668843	D	0.69078	0.997	D	0.63793	0.918	T	0.57734	-0.7760	10	0.62326	D	0.03	.	18.5418	0.91031	0.0:1.0:0.0:0.0	.	60	Q2M5E4	RGS21_HUMAN	M	60	ENSP00000428343:T60M	ENSP00000428343:T60M	T	+	2	0	RGS21	190587890	1.000000	0.71417	0.994000	0.49952	0.670000	0.39368	2.937000	0.48979	2.733000	0.93635	0.557000	0.71058	ACG		0.348	RGS21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086387.2			3	16	0	0	0	0.115264	0	3	16					T	192321267	C	T	192321267	3	4	381	1	0	0	0	0	1	0	0	0	13304	536	19	1	189	1	RGS21	1	192321267	Missense_Mutation	SNP	C	TCGA-ET-A3BS-01A-11D-A202-08	145819784	192321267	56929354	2	7941											
NPAS2	4862	broad.mit.edu	37	chr2	101598737	101598737	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaccatcaaagaccagctAgagcagcggacgcggatcct	11	13	1	3			TCGA-ET-A3BS-01A-11D-A202-08	TCGA-ET-A3BS-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f353a576-14db-4817-9ac8-64d6328adab8	6d88ce09-4e88-4449-a114-ad99a7f5f873	g.chr2:101598737A>G	ENST00000335681.5	+	16	1812	c.1527A>G	c.(1525-1527)ctA>ctG	p.L509L	NPAS2_ENST00000542504.1_Silent_p.L574L	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	509					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAGACCAGCTAGAGCAGCGGA	0.527																																						ENST00000335681.5																			0				cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1525-1527)ctA>ctG		neuronal PAS domain protein 2							83	76	78					2																	101598737		2203	4300	6503	SO:0001819	synonymous_variant	4862				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:101598737A>G	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"Basic helix-loop-helix proteins"	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.1527A>G	2.37:g.101598737A>G						NPAS2_ENST00000542504.1_Silent_p.L574L	p.L509L	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN			16	1812	+			509					Q4ZFV9|Q53SQ3|Q86V96|Q99629	Silent	SNP	ENST00000335681.5	37	c.1527A>G	CCDS2048.1	.	.	.	.	.	.	.	.	.	.	A	10.88	1.476941	0.26511	.	.	ENSG00000170485	ENST00000433408	.	.	.	5.56	2.65	0.31530	.	.	.	.	.	T	0.45617	0.1351	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32428	-0.9907	4	.	.	.	.	2.6869	0.05110	0.27:0.1127:0.5018:0.1154	.	.	.	.	G	8	.	.	R	+	1	2	NPAS2	100965169	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.938000	0.28965	0.703000	0.31848	-0.177000	0.13119	AGA		0.527	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3			4	55	0	0	0	0.014758	0	4	55					G	101598737	A	G	101598737	2	3	381	1	0	0	0	0	0	0	0	1	10563	407	15	3		3	NPAS2	2	101598737	Silent	SNP	A	TCGA-ET-A3BS-01A-11D-A202-08		101598737	141600636	3	7942											
CDH12	1010	broad.mit.edu	37	chr5	22078769	22078769	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccagagaagcagggataaaCagttccttgtaagcattggc	11	9	0	1			TCGA-ET-A3BS-01A-11D-A202-08	TCGA-ET-A3BS-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f353a576-14db-4817-9ac8-64d6328adab8	6d88ce09-4e88-4449-a114-ad99a7f5f873	g.chr5:22078769C>G	ENST00000382254.1	-	5	1103	c.17G>C	c.(16-18)tGt>tCt	p.C6S	CDH12_ENST00000504376.2_Missense_Mutation_p.C6S|CDH12_ENST00000522262.1_Missense_Mutation_p.C6S	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	6					adherens junction organization (GO:0034332)|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(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CAGGGATAAACAGTTCCTTGT	0.448										HNSCC(59;0.17)																												ENST00000382254.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(16-18)tGt>tCt		cadherin 12, type 2 (N-cadherin 2)							125	130	128					5																	22078769		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:22078769C>G	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.17G>C	5.37:g.22078769C>G	ENSP00000371689:p.Cys6Ser	HNSCC(59;0.17)				CDH12_ENST00000504376.2_Missense_Mutation_p.C6S|CDH12_ENST00000522262.1_Missense_Mutation_p.C6S	p.C6S	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN			5	1103	-			6					B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.17G>C	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595277	0.46318	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.56611	0.58;0.58;0.45	5.53	3.72	0.42706	.	0.488476	0.25135	N	0.032866	T	0.31827	0.0809	N	0.08118	0	0.36079	D	0.842668	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21381	-1.0247	10	0.51188	T	0.08	.	10.9808	0.47492	0.1339:0.5929:0.2733:0.0	.	6;6	B7Z2U6;P55289	.;CAD12_HUMAN	S	6	ENSP00000423577:C6S;ENSP00000371689:C6S;ENSP00000428786:C6S	ENSP00000371689:C6S	C	-	2	0	CDH12	22114526	1.000000	0.71417	0.979000	0.43373	0.993000	0.82548	3.648000	0.54410	0.689000	0.31550	-0.233000	0.12211	TGT		0.448	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		29	55	0	0	0	0.108266	0	29	55					G	22078769	C	G	22078769	3	3	381	1	0	0	0	0	1	0	0	0	3098	478	17	4	2411	4	CDH12	5	22078769	Missense_Mutation	SNP	C	TCGA-ET-A3BS-01A-11D-A202-08		22078769	158836491	4	7943											
LIFR	3977	broad.mit.edu	37	chr5	38511959	38511959	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaatgaagattgtcaatGtagcatctaatttccacaaa	6	6	2	2			TCGA-ET-A3BS-01A-11D-A202-08	TCGA-ET-A3BS-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f353a576-14db-4817-9ac8-64d6328adab8	6d88ce09-4e88-4449-a114-ad99a7f5f873	g.chr5:38511959G>A	ENST00000263409.4	-	6	831	c.669C>T	c.(667-669)taC>taT	p.Y223Y	LIFR_ENST00000453190.2_Silent_p.Y223Y|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	223					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GATTGTCAATGTAGCATCTAA	0.393			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	ENST00000263409.4				Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78						c.(667-669)taC>taT		leukemia inhibitory factor receptor alpha							93	79	84					5																	38511959		2203	4300	6503	SO:0001819	synonymous_variant	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38511959G>A	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"CD molecules", "Fibronectin type III domain containing"	6597	protein-coding gene	gene with protein product		151443	"leukemia inhibitory factor receptor"			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.669C>T	5.37:g.38511959G>A						LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Silent_p.Y223Y	p.Y223Y	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN			6	831	-	all_lung(31;0.00021)		223					Q6LCD9	Silent	SNP	ENST00000263409.4	37	c.669C>T	CCDS3927.1																																																																																				0.393	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		12	29	0	0	0	0.080935	0	12	29					A	38511959	G	A	38511959	2	1	381	1	0	0	0	0	0	0	0	1	8780	1372	48	2		2	LIFR	5	38511959	Silent	SNP	G	TCGA-ET-A3BS-01A-11D-A202-08	16433190	38511959	142403301	5	7944											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A3BS-01A-11D-A202-08	TCGA-ET-A3BS-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f353a576-14db-4817-9ac8-64d6328adab8	6d88ce09-4e88-4449-a114-ad99a7f5f873	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		14	40	0	0	0	0.146539	0	14	40					T	140453136	A	T	140453136	3	4	381	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A3BS-01A-11D-A202-08		140453136	18685527	6	7945											
LPL	4023	broad.mit.edu	37	chr8	19811648	19811648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcctcgatccagctggaCctaactttgagtatgcagaa	10	10	0	2	rs200669137		TCGA-ET-A3BS-01A-11D-A202-08	TCGA-ET-A3BS-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f353a576-14db-4817-9ac8-64d6328adab8	6d88ce09-4e88-4449-a114-ad99a7f5f873	g.chr8:19811648C>T	ENST00000311322.8	+	5	1029	c.559C>T	c.(559-561)Cct>Tct	p.P187S		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	187					chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	TCCAGCTGGACCTAACTTTGA	0.453																																						ENST00000311322.8																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(559-561)Cct>Tct		lipoprotein lipase	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)						111	105	107					8																	19811648		2203	4300	6503	SO:0001583	missense	4023				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity	g.chr8:19811648C>T		CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.559C>T	8.37:g.19811648C>T	ENSP00000309757:p.Pro187Ser						p.P187S	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	5	1029	+			187					B2R5T9|Q16282|Q16283|Q96FC4	Missense_Mutation	SNP	ENST00000311322.8	37	c.559C>T	CCDS6012.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704181	0.88924	.	.	ENSG00000175445	ENST00000520959;ENST00000311322;ENST00000538071;ENST00000535763	D;D	0.92149	-2.98;-2.98	6.17	6.17	0.99709	Lipase, N-terminal (1);	0.089217	0.85682	D	0.000000	D	0.97275	0.9109	M	0.94021	3.485	0.40553	D	0.981137	D	0.89917	1.0	D	0.97110	1.0	D	0.97596	1.0120	8	.	.	.	-22.4702	18.3732	0.90420	0.0:1.0:0.0:0.0	.	187	P06858	LIPL_HUMAN	S	111;187;111;173	ENSP00000428496:P111S;ENSP00000309757:P187S	.	P	+	1	0	LPL	19855928	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	5.699000	0.68310	2.941000	0.99782	0.655000	0.94253	CCT		0.453	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3			27	50	0	0	0	0.099896	0	27	50					T	19811648	C	T	19811648	3	4	381	1	0	0	0	0	1	0	0	0	8921	507	18	2	577	2	LPL	8	19811648	Missense_Mutation	SNP	C	TCGA-ET-A3BS-01A-11D-A202-08		19811648	126552374	7	7946											
EXPH5	23086	broad.mit.edu	37	chr11	108384325	108384325	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actctgaggattccttctgtCatcagaaatctgggaaaagg	10	8	5	2			TCGA-ET-A3BS-01A-11D-A202-08	TCGA-ET-A3BS-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f353a576-14db-4817-9ac8-64d6328adab8	6d88ce09-4e88-4449-a114-ad99a7f5f873	g.chr11:108384325C>T	ENST00000265843.4	-	6	2019	c.1909G>A	c.(1909-1911)Gac>Aac	p.D637N	EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000428840.1_Missense_Mutation_p.D561N|EXPH5_ENST00000525344.1_Missense_Mutation_p.D630N|EXPH5_ENST00000443411.1_Missense_Mutation_p.D449N	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	637					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTCCTTCTGTCATCAGAAATC	0.408																																						ENST00000265843.4																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91						c.(1909-1911)Gac>Aac		exophilin 5							98	101	100					11																	108384325		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108384325C>T		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.1909G>A	11.37:g.108384325C>T	ENSP00000265843:p.Asp637Asn					EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000428840.1_Missense_Mutation_p.D561N|EXPH5_ENST00000443411.1_Missense_Mutation_p.D449N|EXPH5_ENST00000525344.1_Missense_Mutation_p.D630N	p.D637N	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	2019	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	637					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.1909G>A	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.461079	0.43736	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.04970	4.22;4.15;4.0;4.22;4.06;3.52	6.03	2.63	0.31362	.	0.874697	0.10070	N	0.719837	T	0.15176	0.0366	M	0.67953	2.075	0.09310	N	1	D	0.63880	0.993	P	0.54140	0.743	T	0.13019	-1.0525	10	0.54805	T	0.06	-0.3658	8.3452	0.32268	0.0:0.7118:0.0:0.2882	.	637	Q8NEV8	EXPH5_HUMAN	N	637;561;449;630;481;561;449	ENSP00000265843:D637N;ENSP00000391966:D561N;ENSP00000411390:D449N;ENSP00000432546:D630N;ENSP00000432683:D561N;ENSP00000446434:D449N	ENSP00000265843:D637N	D	-	1	0	EXPH5	107889535	0.024000	0.19004	0.215000	0.23724	0.022000	0.10575	0.549000	0.23329	0.832000	0.34804	0.557000	0.71058	GAC		0.408	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		10	91	0	0	0	0.069234	0	10	91					T	108384325	C	T	108384325	3	4	381	1	0	0	0	0	1	0	0	0	5322	826	29	2	4064	2	EXPH5	11	108384325	Missense_Mutation	SNP	C	TCGA-ET-A3BS-01A-11D-A202-08		108384325	26622191	8	7947											
SLC25A3	5250	broad.mit.edu	37	chr12	98991696	98991696	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttacacttaaagaggatggTgttcgtggtttggctaaagg	14	4	0	1			TCGA-ET-A3BS-01A-11D-A202-08	TCGA-ET-A3BS-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f353a576-14db-4817-9ac8-64d6328adab8	6d88ce09-4e88-4449-a114-ad99a7f5f873	g.chr12:98991696T>G	ENST00000228318.3	+	4	465	c.345T>G	c.(343-345)ggT>ggG	p.G115G	SNORA53_ENST00000391141.1_RNA|SLC25A3_ENST00000188376.5_Silent_p.G114G|SLC25A3_ENST00000549338.1_Silent_p.G114G|SLC25A3_ENST00000551917.1_Silent_p.G115G|SLC25A3_ENST00000547534.1_Silent_p.G114G|SLC25A3_ENST00000401722.3_Silent_p.G114G|SLC25A3_ENST00000548847.1_Silent_p.G114G|SLC25A3_ENST00000552981.1_Silent_p.G114G	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	115					generation of precursor metabolites and energy (GO:0006091)|phosphate ion transmembrane transport (GO:0035435)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	phosphate ion carrier activity (GO:0015320)|protein complex binding (GO:0032403)|symporter activity (GO:0015293)			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		AAGAGGATGGTGTTCGTGGTT	0.393																																						ENST00000188376.5																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16						c.(340-342)ggT>ggG		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3							162	148	153					12																	98991696		2203	4300	6503	SO:0001819	synonymous_variant	5250				generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity	g.chr12:98991696T>G		CCDS9065.1, CCDS9066.1	12q23.1	2013-05-22			ENSG00000075415	ENSG00000075415		"Solute carriers"	10989	protein-coding gene	gene with protein product		600370		PHC		8168843	Standard	NM_213611		Approved		uc001tfo.3	Q00325	OTTHUMG00000170212	ENST00000228318.3:c.345T>G	12.37:g.98991696T>G						SLC25A3_ENST00000549338.1_Silent_p.G114G|SLC25A3_ENST00000548847.1_Silent_p.G114G|SLC25A3_ENST00000228318.3_Silent_p.G115G|SLC25A3_ENST00000401722.3_Silent_p.G114G|SLC25A3_ENST00000547534.1_Silent_p.G114G|SLC25A3_ENST00000552981.1_Silent_p.G114G|SLC25A3_ENST00000551917.1_Silent_p.G115G	p.G114G	NM_002635.3|NM_213611.2	NP_002626.1|NP_998776.1	Q00325	MPCP_HUMAN		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)	3	696	+		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)	115					B3KS34|Q7Z7N7|Q96A03	Silent	SNP	ENST00000228318.3	37	c.342T>G	CCDS9066.1																																																																																				0.393	SLC25A3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407989.1	NM_005888		27	51	0	0	0	0.134883	0	27	51					G	98991696	T	G	98991696	2	3	381	1	0	0	0	0	0	0	0	1	14493	1683	59	5		5	SLC25A3	12	98991696	Silent	SNP	T	TCGA-ET-A3BS-01A-11D-A202-08		98991696	34860199	9	7948											
MUC16	94025	broad.mit.edu	37	chr19	8962361	8962361	+	Frame_Shift_Del	DEL	C	C	-													ctttgagacttaccagaattCccagttaagggctcatttct							TCGA-ET-A3BS-01A-11D-A202-08	TCGA-ET-A3BS-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f353a576-14db-4817-9ac8-64d6328adab8	6d88ce09-4e88-4449-a114-ad99a7f5f873	g.chr19:8962361delC	ENST00000397910.4	-	82	43541	c.43338delG	c.(43336-43338)gggfs	p.G14446fs	MUC16_ENST00000380951.5_Frame_Shift_Del_p.G1087fs	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	22091	SEA 16. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TACCAGAATTCCCAGTTAAGG	0.478																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(43336-43338)ggfs		mucin 16, cell surface associated							26	27	27					19																	8962361		1793	3965	5758	SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8962361delC	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.43338delG	19.37:g.8962361delC	ENSP00000381008:p.Gly14446fs					MUC16_ENST00000380951.5_Frame_Shift_Del_p.G1087fs	p.G14446fs	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			82	43541	-			13920	Missing (in Ref. 3; AAK74120).		SEA 16.		Q6ZQW5|Q96RK2	Frame_Shift_Del	DEL	ENST00000397910.4	37	c.43338delG	CCDS54212.1																																																																																				0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		2	4						2	4	---	---	---	---	-	8962361	C	-	8962361	7	5	381	1	0	1	0	1	0	0	0	0	9973	842	30	0	197	0	MUC16	19	8962361	Frame_Shift_Del	DEL	C	TCGA-ET-A3BS-01A-11D-A202-08		8962361	50166622	10	7949											
CEACAM5	1048	broad.mit.edu	37	chr19	42213808	42213808	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaactcaacaagctaccccaGggcccgcatacagtggtcga	10	14	1	0			TCGA-ET-A3BS-01A-11D-A202-08	TCGA-ET-A3BS-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f353a576-14db-4817-9ac8-64d6328adab8	6d88ce09-4e88-4449-a114-ad99a7f5f873	g.chr19:42213808G>C	ENST00000221992.6	+	2	388	c.274G>C	c.(274-276)Ggg>Cgg	p.G92R	CEACAM5_ENST00000405816.1_Missense_Mutation_p.G92R|CEACAM5_ENST00000398599.4_Missense_Mutation_p.G92R|CEA_ENST00000598976.1_Missense_Mutation_p.G92R|CEACAM7_ENST00000599715.1_5'Flank	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	92	Ig-like 1.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		AGCTACCCCAGGGCCCGCATA	0.473																																						ENST00000221992.6																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(274-276)Ggg>Cgg		carcinoembryonic antigen-related cell adhesion molecule 5							193	199	197					19																	42213808		2203	4300	6503	SO:0001583	missense	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42213808G>C	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.274G>C	19.37:g.42213808G>C	ENSP00000221992:p.Gly92Arg					CEACAM5_ENST00000398599.4_Missense_Mutation_p.G92R|CEACAM5_ENST00000405816.1_Missense_Mutation_p.G92R|CEA_ENST00000598976.1_Missense_Mutation_p.G92R	p.G92R	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	2	388	+			92			Ig-like 1.		H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	c.274G>C	CCDS12584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	12.63|12.63	1.994462|1.994462	0.35226|0.35226	.|.	.|.	ENSG00000105388|ENSG00000105388	ENST00000221992;ENST00000405816;ENST00000378181|ENST00000398599	T;T|.	0.67698|.	-0.28;-0.28|.	2.56|2.56	1.49|1.49	0.22878|0.22878	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);|.	.|.	.|.	.|.	.|.	T|T	0.73063|0.73063	0.3539|0.3539	H|H	0.95917|0.95917	3.74|3.74	0.09310|0.09310	N|N	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.999;0.999|.	T|T	0.63409|0.63409	-0.6644|-0.6644	9|5	0.87932|.	D|.	0|.	.|.	6.5806|6.5806	0.22591|0.22591	0.0:0.0:0.7141:0.2859|0.0:0.0:0.7141:0.2859	.|.	92;92;92|.	Q8N4D0;P06731;Q53G30|.	.;CEAM5_HUMAN;.|.	R|T	92|88	ENSP00000221992:G92R;ENSP00000385072:G92R|.	ENSP00000221992:G92R|.	G|R	+|+	1|2	0|0	CEACAM5|CEACAM5	46905648|46905648	0.089000|0.089000	0.21612|0.21612	0.005000|0.005000	0.12908|0.12908	0.011000|0.011000	0.07611|0.07611	1.563000|1.563000	0.36364|0.36364	0.628000|0.628000	0.30357|0.30357	0.305000|0.305000	0.20034|0.20034	GGG|AGG		0.473	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		6	223	0	0	0	0.021553	0	6	223					C	42213808	G	C	42213808	3	2	381	1	0	0	0	0	1	0	0	0	3195	1000	35	4	280	4	CEACAM5	19	42213808	Missense_Mutation	SNP	G	TCGA-ET-A3BS-01A-11D-A202-08	33251447	42213808	16915175	11	7950											
TMEM53	79639	broad.mit.edu	37	chr1	45120353	45120353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaacgcgccaggacccggcGtgccaggcgtgcctccacca	13	17	0	1			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr1:45120353G>A	ENST00000372237.3	-	3	875	c.712C>T	c.(712-714)Cgc>Tgc	p.R238C	TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372242.3_Intron|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372235.3_Missense_Mutation_p.R208C|TMEM53_ENST00000476724.1_5'UTR	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	238						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					AGGACCCGGCGTGCCAGGCGT	0.602																																						ENST00000372237.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10						c.(712-714)Cgc>Tgc		transmembrane protein 53							95	106	102					1																	45120353		2203	4300	6503	SO:0001583	missense	79639					integral to membrane		g.chr1:45120353G>A		CCDS511.1, CCDS72773.1	1p34.1	2008-02-26			ENSG00000126106	ENSG00000126106			26186	protein-coding gene	gene with protein product						12958361	Standard	XR_425151		Approved	FLJ22353, NET4	uc001cmc.3	Q6P2H8	OTTHUMG00000007833	ENST00000372237.3:c.712C>T	1.37:g.45120353G>A	ENSP00000361311:p.Arg238Cys					TMEM53_ENST00000372242.3_Intron|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000476724.1_5'UTR|TMEM53_ENST00000372235.3_Missense_Mutation_p.R208C|TMEM53_ENST00000372244.3_Intron	p.R238C	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN			3	875	-	Acute lymphoblastic leukemia(166;0.155)		238					B4DKG0|Q5JPH2|Q6IA07|Q9H6E2	Missense_Mutation	SNP	ENST00000372237.3	37	c.712C>T	CCDS511.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171698	0.38315	.	.	ENSG00000126106	ENST00000372237;ENST00000372235	.	.	.	5.54	5.54	0.83059	.	0.486297	0.24793	N	0.035551	T	0.56920	0.2018	L	0.38838	1.175	0.50632	D	0.999881	B	0.17852	0.024	B	0.12156	0.007	T	0.52305	-0.8593	9	0.52906	T	0.07	.	19.4772	0.94994	0.0:0.0:1.0:0.0	.	238	Q6P2H8	TMM53_HUMAN	C	238;208	.	ENSP00000361309:R208C	R	-	1	0	TMEM53	44892940	1.000000	0.71417	0.870000	0.34147	0.473000	0.32948	6.039000	0.70972	2.602000	0.87976	0.563000	0.77884	CGC		0.602	TMEM53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021599.1	NM_024587		31	48	0	0	0	0.054565	0	31	48					A	45120353	G	A	45120353	3	1	382	1	0	0	0	0	1	0	0	0	16176	1145	40	1	125	1	TMEM53	1	45120353	Missense_Mutation	SNP	G	TCGA-ET-A3BT-01A-11D-A19J-08		45120353	204130268	1	7951											
OR2T4	127074	broad.mit.edu	37	chr1	248525828	248525828	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctataccatcctcactccaGtggtgaaccctttaatctat	4	13	3	1			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr1:248525828G>T	ENST00000366475.1	+	1	946	c.946G>T	c.(946-948)Gtg>Ttg	p.V316L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	316						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCTCACTCCAGTGGTGAACCC	0.463																																						ENST00000366475.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(946-948)Gtg>Ttg		olfactory receptor, family 2, subfamily T, member 4							149	146	147					1																	248525828		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525828G>T	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.946G>T	1.37:g.248525828G>T	ENSP00000355431:p.Val316Leu						p.V316L	NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	946	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		316					Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.946G>T	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	G	0.148	-1.094662	0.01858	.	.	ENSG00000196944	ENST00000366475	T	0.36699	1.24	3.0	2.04	0.26737	GPCR, rhodopsin-like superfamily (1);	0.173086	0.27442	N	0.019346	T	0.12178	0.0296	N	0.03324	-0.35	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.11941	-1.0567	10	0.23302	T	0.38	.	2.6383	0.04964	0.2801:0.0:0.4854:0.2345	.	316	Q8NH00	OR2T4_HUMAN	L	316	ENSP00000355431:V316L	ENSP00000355431:V316L	V	+	1	0	OR2T4	246592451	0.000000	0.05858	0.988000	0.46212	0.052000	0.14988	-1.318000	0.02705	1.498000	0.48600	0.585000	0.79938	GTG		0.463	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		73	100	1	0	1.356e-25	0.139131	1.54434e-25	73	100					T	248525828	G	T	248525828	3	4	382	1	0	0	0	0	1	0	0	0	11027	1029	36	4	948	4	OR2T4	1	248525828	Missense_Mutation	SNP	G	TCGA-ET-A3BT-01A-11D-A19J-08	203405475	248525828	724793	2	7952											
RNF7	9616	broad.mit.edu	37	chr3	141462360	141462360	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttacttttagatgcctgtcTtagatgtcaagctgaaaaca	7	7	2	3			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr3:141462360T>G	ENST00000273480.3	+	2	323	c.185T>G	c.(184-186)cTt>cGt	p.L62R	RNF7_ENST00000480908.1_Intron|RNF7_ENST00000393000.3_Missense_Mutation_p.L60V	NM_014245.4|NM_183237.2	NP_055060.1|NP_899060.1	Q9UBF6	RBX2_HUMAN	ring finger protein 7	62					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of apoptotic process (GO:0043066)|protein neddylation (GO:0045116)|protein ubiquitination (GO:0016567)|response to redox state (GO:0051775)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|NEDD8 ligase activity (GO:0019788)|zinc ion binding (GO:0008270)			kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5						GATGCCTGTCTTAGATGTCAA	0.358																																						ENST00000273480.3																			0				kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5						c.(184-186)cTt>cGt		ring finger protein 7							254	243	247					3																	141462360		2203	4300	6503	SO:0001583	missense	9616				anti-apoptosis|induction of apoptosis by oxidative stress|protein neddylation|response to redox state	cytoplasm|nucleus	copper ion binding|NEDD8 ligase activity|protein binding|zinc ion binding	g.chr3:141462360T>G	AF092878	CCDS3118.1, CCDS43158.1, CCDS56283.1	3q22-q24	2008-07-18			ENSG00000114125	ENSG00000114125		"RING-type (C3HC4) zinc fingers"	10070	protein-coding gene	gene with protein product	"sensitive to apoptosis, zinc RING finger protein SAG, regulator of cullins 2"	603863				10082581, 10230407	Standard	NM_014245		Approved	SAG, ROC2, CKBBP1	uc003eud.3	Q9UBF6	OTTHUMG00000141305	ENST00000273480.3:c.185T>G	3.37:g.141462360T>G	ENSP00000273480:p.Leu62Arg					RNF7_ENST00000480908.1_Intron|RNF7_ENST00000393000.3_Missense_Mutation_p.L60V	p.L62R	NM_014245.4|NM_183237.2	NP_055060.1|NP_899060.1	Q9UBF6	RBX2_HUMAN			2	323	+			62					A8K1H9|A8MTB5|C9JYL3|D3DNF7|D3DNF8|Q9BXN8|Q9Y5M7	Missense_Mutation	SNP	ENST00000273480.3	37	c.185T>G	CCDS3118.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.09|17.09	3.299787|3.299787	0.60195|0.60195	.|.	.|.	ENSG00000114125|ENSG00000114125	ENST00000273480|ENST00000393000	T|.	0.46063|.	0.88|.	5.92|5.92	5.92|5.92	0.95590|0.95590	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.42200|0.42200	0.1192|0.1192	.|.	.|.	.|.	0.22947|0.22947	N|N	0.998528|0.998528	D|B	0.89917|0.22683	1.0|0.073	D|B	0.78314|0.24394	0.991|0.053	T|T	0.35847|0.35847	-0.9772|-0.9772	9|8	0.87932|0.45353	D|T	0|0.12	.|.	16.3782|16.3782	0.83418|0.83418	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	62|60	Q9UBF6|Q9UBF6-3	RBX2_HUMAN|.	R|V	62|60	ENSP00000273480:L62R|.	ENSP00000273480:L62R|ENSP00000376725:L60V	L|L	+|+	2|1	0|2	RNF7|RNF7	142945050|142945050	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.804000|6.804000	0.75186|0.75186	2.277000|2.277000	0.76020|0.76020	0.528000|0.528000	0.53228|0.53228	CTT|TTA		0.358	RNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280602.1	NM_014245		23	54	0	0	0	0.083992	0	23	54					G	141462360	T	G	141462360	3	3	382	1	0	0	0	0	1	0	0	0	13499	1609	56	5	191	5	RNF7	3	141462360	Missense_Mutation	SNP	T	TCGA-ET-A3BT-01A-11D-A19J-08		141462360	56560070	3	7953											
XRN1	54464	broad.mit.edu	37	chr3	142031581	142031581	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgagccaaagagatgagaCgacgaaggcattatattagc	11	6	0	3	rs534878384		TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr3:142031581C>T	ENST00000264951.4	-	41	4794	c.4677G>A	c.(4675-4677)tcG>tcA	p.S1559S	XRN1_ENST00000392981.2_Silent_p.S1547S	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1559					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						AGAGATGAGACGACGAAGGCA	0.443													C|||	1	0.000199681	0	0.0014	5008	,	,		15030	0		0	False		,,,				2504	0					ENST00000264951.4																			0				NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						c.(4675-4677)tcG>tcA		5'-3' exoribonuclease 1							118	122	121					3																	142031581		2203	4300	6503	SO:0001819	synonymous_variant	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142031581C>T	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.4677G>A	3.37:g.142031581C>T						XRN1_ENST00000392981.2_Silent_p.S1547S	p.S1559S	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN			41	4794	-			1559					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Silent	SNP	ENST00000264951.4	37	c.4677G>A	CCDS3123.1																																																																																				0.443	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		5	120	0	0	0	0.014758	0	5	120					T	142031581	C	T	142031581	2	4	382	1	0	0	0	0	0	0	0	1	17456	523	19	1		1	XRN1	3	142031581	Silent	SNP	C	TCGA-ET-A3BT-01A-11D-A19J-08	569221	142031581	55990849	4	7954											
TTK	7272	broad.mit.edu	37	chr6	80715612	80715612	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacaattgattccataatgAacaaagtgagagacattaaa	7	5	0	5			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr6:80715612A>G	ENST00000369798.2	+	2	163	c.52A>G	c.(52-54)Aac>Gac	p.N18D	TTK_ENST00000230510.3_Missense_Mutation_p.N18D|TTK_ENST00000509894.1_Missense_Mutation_p.N18D	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	18					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TTCCATAATGAACAAAGTGAG	0.313																																						ENST00000509894.1																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(52-54)Aac>Gac		TTK protein kinase							81	86	85					6																	80715612		2203	4300	6503	SO:0001583	missense	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80715612A>G		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"cancer/testis antigen 96", "monopolar spindle 1 kinase"	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.52A>G	6.37:g.80715612A>G	ENSP00000358813:p.Asn18Asp					TTK_ENST00000369798.2_Missense_Mutation_p.N18D|TTK_ENST00000230510.3_Missense_Mutation_p.N18D	p.N18D			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	2	881	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	18					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	c.52A>G	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	A	11.98	1.801807	0.31869	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798;ENST00000502580;ENST00000511260;ENST00000504040	D;D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44;-2.44	4.84	4.84	0.62591	.	0.272821	0.42053	D	0.000780	T	0.68577	0.3016	L	0.34521	1.04	0.23325	N	0.997908	B;B	0.06786	0.001;0.001	B;B	0.08055	0.002;0.003	T	0.55617	-0.8113	10	0.24483	T	0.36	.	8.357	0.32335	0.9121:0.0:0.0879:0.0	.	18;18	P33981;A8K8U5	TTK_HUMAN;.	D	18	ENSP00000422936:N18D;ENSP00000230510:N18D;ENSP00000358813:N18D;ENSP00000424851:N18D;ENSP00000421636:N18D;ENSP00000427483:N18D	ENSP00000230510:N18D	N	+	1	0	TTK	80772331	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.701000	0.54793	1.817000	0.53016	0.379000	0.24179	AAC		0.313	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			7	56	0	0	0	0.047766	0	7	56					G	80715612	A	G	80715612	3	3	382	1	0	0	0	0	1	0	0	0	16717	246	9	3	54	3	TTK	6	80715612	Missense_Mutation	SNP	A	TCGA-ET-A3BT-01A-11D-A19J-08		80715612	90399455	5	7955											
MLL5	55904	broad.mit.edu	37	chr7	104742494	104742495	+	Frame_Shift_Ins	INS	-	-	A													tccagccatcttctcctgatINSatagaagttacttcacaaca							TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr7:104742494_104742495insA	ENST00000311117.3	+	17	2594_2595	c.2049_2050insA	c.(2050-2052)atafs	p.I684fs	KMT2E_ENST00000334877.4_Frame_Shift_Ins_p.I684fs|CTB-152G17.6_ENST00000607968.1_RNA|KMT2E_ENST00000257745.4_Frame_Shift_Ins_p.I684fs|KMT2E_ENST00000334914.7_5'UTR	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	684					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)										CTTCTCCTGATATAGAAGTTAC	0.381																																						ENST00000334877.4																			0											c.(2047-2052)gatagafs		lysine (K)-specific methyltransferase 2E																																				SO:0001589	frameshift_variant	55904							g.chr7:104742494_104742495insA	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.2050dupA	7.37:g.104742495_104742495dupA	ENSP00000312379:p.Ile684fs					KMT2E_ENST00000311117.3_Frame_Shift_Ins_p.DR683fs|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000257745.4_Frame_Shift_Ins_p.DR683fs	p.DR683fs							17	2583_2584	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Frame_Shift_Ins	INS	ENST00000311117.3	37	c.2049_2050insA	CCDS34723.1																																																																																				0.381	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			13	69						13	69	---	---	---	---	A	104742495	-	A	104742494	7	5	382	1	0	1	1	0	0	0	0	0	9624	1403	49	0	2107	0	MLL5	7	104742494	Frame_Shift_Ins	INS	-	TCGA-ET-A3BT-01A-11D-A19J-08		104742494	54396169	6	7956											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		24	27	0	0	0	0.0918	0	24	27					T	140453136	A	T	140453136	3	4	382	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A3BT-01A-11D-A19J-08	35710642	140453136	18685527	7	7957											
PTPRD	5789	broad.mit.edu	37	chr9	8454579	8454579	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtttgttctctattcctcaCctgtcgggtttactgctcca	8	12	2	0			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr9:8454579C>A	ENST00000381196.4	-	31	4419				PTPRD_ENST00000486161.1_Splice_Site|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Intron|PTPRD_ENST00000356435.5_Intron|PTPRD_ENST00000397611.3_Splice_Site|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Intron|PTPRD_ENST00000355233.5_Splice_Site|PTPRD_ENST00000358503.5_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D						heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTATTCCTCACCTGTCGGGTT	0.408										TSP Lung(15;0.13)																												ENST00000355233.5																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.e18+1		protein tyrosine phosphatase, receptor type, D							89	82	84					9																	8454579		1822	4081	5903	SO:0001627	intron_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8454579C>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3876-4742G>T	9.37:g.8454579C>A		TSP Lung(15;0.13)				PTPRD_ENST00000486161.1_Splice_Site|PTPRD_ENST00000356435.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Splice_Site|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000381196.4_Intron|PTPRD_ENST00000540109.1_Intron|PTPRD_ENST00000360074.4_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000358503.5_Intron		NM_130391.3|NM_130392.3|NM_130393.3	NP_569075.2|NP_569076.2|NP_569077.2	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	18	2760	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)						B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Splice_Site	SNP	ENST00000381196.4	37		CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514225	0.85389	.	.	ENSG00000153707	ENST00000355233;ENST00000397611;ENST00000486161	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0886	0.93217	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPRD	8444579	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.435000	0.80391	2.517000	0.84864	0.591000	0.81541	.		0.408	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			5	18	1	0	5.18039e-06	0.038147	5.58937e-06	5	18					A	8454579	C	A	8454579	1	1	382	0	1	0	0	0	0	0	0	0	12799	521	18	4		4	PTPRD	9	8454579	Intron	SNP	C	TCGA-ET-A3BT-01A-11D-A19J-08		8454579	132758852	8	7958											
OR4C3	256144	broad.mit.edu	37	chr11	48347139	48347139	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggaagttgcctgcaccaAtacgtatgtcattggtctgc	11	10	2	0	rs386753296		TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr11:48347139A>G	ENST00000319856.4	+	1	668	c.647A>G	c.(646-648)aAt>aGt	p.N216S		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GCCTGCACCAATACGTATGTC	0.507																																						ENST00000319856.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						c.(646-648)aAt>aGt		olfactory receptor, family 4, subfamily C, member 3							224	164	184					11																	48347139		2201	4298	6499	SO:0001583	missense	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48347139A>G	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"GPCR / Class A : Olfactory receptors"	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.647A>G	11.37:g.48347139A>G	ENSP00000321419:p.Asn216Ser						p.N216S	NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN			1	668	+			189					B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	37	c.647A>G	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	A	11.17	1.560907	0.27827	.	.	ENSG00000176547	ENST00000319856;ENST00000395239	T	0.00091	8.74	5.78	5.78	0.91487	GPCR, rhodopsin-like superfamily (1);	0.901795	0.09503	N	0.793384	T	0.00178	0.0005	L	0.28192	0.835	0.26075	N	0.981161	B	0.23058	0.079	B	0.32928	0.155	T	0.57112	-0.7867	10	0.87932	D	0	.	14.2031	0.65716	1.0:0.0:0.0:0.0	.	189	Q8NH37	OR4C3_HUMAN	S	216;79	ENSP00000321419:N216S	ENSP00000321419:N216S	N	+	2	0	OR4C3	48303715	0.405000	0.25336	0.742000	0.31022	0.051000	0.14879	5.005000	0.63972	2.245000	0.73994	0.391000	0.25812	AAT		0.507	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		10	37	0	0	0	0.069234	0	10	37					G	48347139	A	G	48347139	3	3	382	1	0	0	0	0	1	0	0	0	11050	101	4	3	649	3	OR4C3	11	48347139	Missense_Mutation	SNP	A	TCGA-ET-A3BT-01A-11D-A19J-08		48347139	86659377	9	7959											
OR4A5	81318	broad.mit.edu	37	chr11	51411842	51411842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaagtaggtgtcagtgcatGccagttccagtaatgggtgc	13	7	1	0			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr11:51411842G>A	ENST00000319760.6	-	1	606	c.554C>T	c.(553-555)gCa>gTa	p.A185V		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	185						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)				GTCAGTGCATGCCAGTTCCAG	0.423																																						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.(553-555)gCa>gTa		olfactory receptor, family 4, subfamily A, member 5							64	56	59					11																	51411842		2201	4295	6496	SO:0001583	missense	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51411842G>A	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.554C>T	11.37:g.51411842G>A	ENSP00000367664:p.Ala185Val						p.A185V	NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN			1	606	-		all_lung(304;0.236)	185					Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	c.554C>T	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	1.278	-0.611133	0.03690	.	.	ENSG00000221840	ENST00000319760	T	0.00183	8.6	1.93	-0.111	0.13576	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000249	T	0.00210	0.0006	L	0.61036	1.89	0.09310	N	1	B	0.18013	0.025	B	0.30782	0.12	T	0.36237	-0.9756	10	0.40728	T	0.16	.	5.9532	0.19259	0.3154:0.0:0.6846:0.0	.	185	Q8NH83	OR4A5_HUMAN	V	185	ENSP00000367664:A185V	ENSP00000367664:A185V	A	-	2	0	OR4A5	51268418	0.003000	0.15002	0.325000	0.25375	0.035000	0.12851	1.327000	0.33746	-0.017000	0.14103	0.162000	0.16502	GCA		0.423	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		14	12	0	0	0	0.11911	0	14	12					A	51411842	G	A	51411842	3	1	382	1	0	0	0	0	1	0	0	0	11043	1319	46	2	397	2	OR4A5	11	51411842	Missense_Mutation	SNP	G	TCGA-ET-A3BT-01A-11D-A19J-08	3064703	51411842	83594674	10	7960											
ZNF384	171017	broad.mit.edu	37	chr12	6781601	6781601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggcccccgagtggatacGgaggtgctgggccaggtagg	18	10	0	0			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr12:6781601G>A	ENST00000396801.3	-	8	1216	c.1009C>T	c.(1009-1011)Cgt>Tgt	p.R337C	ZNF384_ENST00000319770.3_Intron|ZNF384_ENST00000361959.3_Missense_Mutation_p.R337C|RP4-761J14.8_ENST00000586338.1_RNA|ZNF384_ENST00000355772.4_Intron|ZNF384_ENST00000396795.1_Intron|ZNF384_ENST00000396799.2_Intron	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	337					nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						GAGTGGATACGGAGGTGCTGG	0.617			T	"EWSR1, TAF15 "	ALL																																	ENST00000396801.3				Dom	yes		12	12p13	171017	T	zinc finger protein 384 (CIZ/NMP4)			L	"EWSR1, TAF15 "		ALL	EWSR1/ZNF384(4)	0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						c.(1009-1011)Cgt>Tgt		zinc finger protein 384							82	81	81					12																	6781601		1568	3582	5150	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:6781601G>A	U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"Zinc fingers, C2H2-type"	11955	protein-coding gene	gene with protein product		609951	"trinucleotide repeat containing 1"	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.1009C>T	12.37:g.6781601G>A	ENSP00000380019:p.Arg337Cys					ZNF384_ENST00000396795.1_Intron|ZNF384_ENST00000396799.2_Intron|ZNF384_ENST00000319770.3_Intron|ZNF384_ENST00000355772.4_Intron|ZNF384_ENST00000361959.3_Missense_Mutation_p.R337C	p.R337C	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN			8	1216	-			337					O15407|Q7Z722|Q8N938	Missense_Mutation	SNP	ENST00000396801.3	37	c.1009C>T	CCDS44817.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.155156	0.78114	.	.	ENSG00000126746	ENST00000396801;ENST00000361959	T;T	0.02472	4.28;4.28	5.69	5.69	0.88448	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.20455	0.0492	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	T	0.00619	-1.1641	10	0.87932	D	0	-8.9831	19.4149	0.94690	0.0:0.0:1.0:0.0	.	337	Q8TF68	ZN384_HUMAN	C	337	ENSP00000380019:R337C;ENSP00000354592:R337C	ENSP00000354592:R337C	R	-	1	0	ZNF384	6651862	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.773000	0.98989	2.676000	0.91093	0.655000	0.94253	CGT		0.617	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400712.1			27	36	0	0	0	0.144211	0	27	36					A	6781601	G	A	6781601	3	1	382	1	0	0	0	0	1	0	0	0	17872	1116	39	1	740	1	ZNF384	12	6781601	Missense_Mutation	SNP	G	TCGA-ET-A3BT-01A-11D-A19J-08		6781601	127070294	11	7961											
CCNT1	904	broad.mit.edu	37	chr12	49087741	49087741	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagattctgggcagcatatGcatattgtgacttcacattg	11	7	2	2			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr12:49087741G>T	ENST00000261900.3	-	9	1478	c.1256C>A	c.(1255-1257)gCa>gAa	p.A419E		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	419					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						GGCAGCATATGCATATTGTGA	0.463																																						ENST00000261900.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						c.(1255-1257)gCa>gAa		cyclin T1							150	156	154					12																	49087741		2203	4300	6503	SO:0001583	missense	904				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	g.chr12:49087741G>T	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.1256C>A	12.37:g.49087741G>T	ENSP00000261900:p.Ala419Glu						p.A419E	NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN			9	1478	-			419					A9XU13|E7EX76|O60581	Missense_Mutation	SNP	ENST00000261900.3	37	c.1256C>A	CCDS8766.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.105726	0.77096	.	.	ENSG00000129315	ENST00000261900	T	0.19669	2.13	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.38506	0.1043	L	0.46157	1.445	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.01894	-1.1252	10	0.22706	T	0.39	-10.7242	18.0305	0.89282	0.0:0.0:1.0:0.0	.	419	O60563	CCNT1_HUMAN	E	419	ENSP00000261900:A419E	ENSP00000261900:A419E	A	-	2	0	CCNT1	47374008	1.000000	0.71417	0.995000	0.50966	0.961000	0.63080	9.594000	0.98254	2.634000	0.89283	0.561000	0.74099	GCA		0.463	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		81	102	1	0	3.20846e-33	0.139131	3.75849e-33	81	102					T	49087741	G	T	49087741	3	4	382	1	0	0	0	0	1	0	0	0	2934	1319	46	4	928	4	CCNT1	12	49087741	Missense_Mutation	SNP	G	TCGA-ET-A3BT-01A-11D-A19J-08	42306140	49087741	84764154	12	7962											
RSRC2	65117	broad.mit.edu	37	chr12	123001975	123001975	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcttctactacgatggCgtctgaaattaaagtgcaca	8	11	2	1			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr12:123001975C>T	ENST00000331738.7	-	5	546	c.401G>A	c.(400-402)cGc>cAc	p.R134H	RSRC2_ENST00000354654.2_Missense_Mutation_p.R86H	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	134	Ser-rich.						poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		ACTACGATGGCGTCTGAAATT	0.398																																						ENST00000331738.7																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24						c.(400-402)cGc>cAc		arginine/serine-rich coiled-coil 2							74	69	71					12																	123001975		2203	4300	6503	SO:0001583	missense	65117							g.chr12:123001975C>T	AF161432	CCDS31920.1	12q24.31	2007-02-13			ENSG00000111011	ENSG00000111011			30559	protein-coding gene	gene with protein product						17203224	Standard	NM_023012		Approved	FLJ11021	uc001ucr.3	Q7L4I2	OTTHUMG00000167572	ENST00000331738.7:c.401G>A	12.37:g.123001975C>T	ENSP00000330188:p.Arg134His					RSRC2_ENST00000354654.2_Missense_Mutation_p.R86H	p.R134H	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)	5	546	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		134			Ser-rich.		Q6N040|Q6NW16|Q9H864	Missense_Mutation	SNP	ENST00000331738.7	37	c.401G>A	CCDS31920.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.961886|3.961886	0.74016|0.74016	.|.	.|.	ENSG00000111011|ENSG00000111011	ENST00000526560|ENST00000331738;ENST00000354654;ENST00000418773;ENST00000344591	T|T;T;T	0.55588|0.27256	0.51|1.68;1.68;1.68	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	.|0.366154	.|0.31989	.|N	.|0.006759	T|T	0.36138|0.36138	0.0956|0.0956	N|N	0.14661|0.14661	0.345|0.345	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D	.|0.69078	.|0.997;0.997;0.997;0.997	.|D;D;D;D	.|0.74674	.|0.984;0.923;0.984;0.923	T|T	0.41502|0.41502	-0.9505|-0.9505	7|10	0.87932|0.72032	D|D	0|0.01	.|.	18.8274|18.8274	0.92124|0.92124	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|134;86;134;75	.|F5GXM2;Q7L4I2-2;Q7L4I2;E1B6W4	.|.;.;RSRC2_HUMAN;.	T|H	28|134;86;134;75	ENSP00000446470:A28T|ENSP00000330188:R134H;ENSP00000346678:R86H;ENSP00000343315:R75H	ENSP00000446470:A28T|ENSP00000330188:R134H	A|R	-|-	1|2	0|0	RSRC2|RSRC2	121567928|121567928	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.927000|0.927000	0.56198|0.56198	6.411000|6.411000	0.73298|0.73298	2.528000|2.528000	0.85240|0.85240	0.558000|0.558000	0.71614|0.71614	GCC|CGC		0.398	RSRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395096.3	NM_023012		3	28	0	0	0	0.115264	0	3	28					T	123001975	C	T	123001975	3	4	382	1	0	0	0	0	1	0	0	0	13715	768	27	1	927	1	RSRC2	12	123001975	Missense_Mutation	SNP	C	TCGA-ET-A3BT-01A-11D-A19J-08	73914234	123001975	10849920	13	7963											
SMG6	23293	broad.mit.edu	37	chr17	2203563	2203563	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gacttcttcctcctccacccGactggcggattctttgctaa	7	15	2	0	rs200691961		TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr17:2203563G>T	ENST00000263073.6	-	2	534	c.484C>A	c.(484-486)Cgg>Agg	p.R162R	SMG6_ENST00000544865.1_Silent_p.R131R	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	162	Interaction with telomeric DNA.				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)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCCTCCACCCGACTGGCGGAT	0.468																																					Melanoma(59;28 1088 11621 25887 46638 50814)	ENST00000544865.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(391-393)Cgg>Agg		SMG6 nonsense mediated mRNA decay factor							156	170	165					17																	2203563		2203	4300	6503	SO:0001819	synonymous_variant	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2203563G>T	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"EST1 telomerase component homolog A (S. cerevisiae)"	610963	"chromosome 17 open reading frame 31", "smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.484C>A	17.37:g.2203563G>T						SMG6_ENST00000263073.5_Silent_p.R162R	p.R131R			Q86US8	EST1A_HUMAN			2	901	-			162			Interaction with telomeric DNA.		B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP	ENST00000263073.6	37	c.391C>A	CCDS11016.1																																																																																				0.468	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			9	211	1	0	1.12685e-05	0.047766	1.18464e-05	9	211					T	2203563	G	T	2203563	2	4	382	1	0	0	0	0	0	0	0	1	14797	1057	37	4		4	SMG6	17	2203563	Silent	SNP	G	TCGA-ET-A3BT-01A-11D-A19J-08		2203563	78991647	14	7964											
KRT35	3886	broad.mit.edu	37	chr17	39635994	39635994	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caatttggcattgtcaatctCcaccaccagcctggcattct	6	14	3	0			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr17:39635994C>T	ENST00000393989.1	-	2	553	c.511G>A	c.(511-513)Gag>Aag	p.E171K	KRT35_ENST00000246639.2_Missense_Mutation_p.E141K	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	171	Coil 1B.|Rod.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				TTGTCAATCTCCACCACCAGC	0.488																																						ENST00000246639.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(421-423)Gag>Aag		keratin 35							186	187	187					17																	39635994		2203	4300	6503	SO:0001583	missense	3886				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity	g.chr17:39635994C>T	X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"-", "Intermediate filaments type I, keratins (acidic)"	6453	protein-coding gene	gene with protein product	"hard keratin type I 5"	602764	"keratin, hair, acidic, 5"	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.511G>A	17.37:g.39635994C>T	ENSP00000377558:p.Glu171Lys					KRT35_ENST00000393989.1_Missense_Mutation_p.E171K	p.E141K			Q92764	KRT35_HUMAN			2	553	-		Breast(137;0.000286)	171			Linker 1.|Rod.		O76012|Q92651	Missense_Mutation	SNP	ENST00000393989.1	37	c.421G>A	CCDS11394.2	.	.	.	.	.	.	.	.	.	.	C	15.45	2.836446	0.50951	.	.	ENSG00000197079	ENST00000246639;ENST00000393989	D;D	0.90324	-2.65;-2.65	5.1	4.13	0.48395	Filament (1);	0.124173	0.36893	N	0.002359	D	0.88097	0.6345	M	0.64170	1.965	0.24401	N	0.994703	B	0.11235	0.004	B	0.12837	0.008	T	0.81765	-0.0783	10	0.87932	D	0	.	10.2721	0.43489	0.0:0.2832:0.5815:0.1353	.	171	Q92764	KRT35_HUMAN	K	141;171	ENSP00000246639:E141K;ENSP00000377558:E171K	ENSP00000246639:E141K	E	-	1	0	KRT35	36889520	0.005000	0.15991	1.000000	0.80357	0.982000	0.71751	-0.024000	0.12435	1.366000	0.46076	-0.165000	0.13383	GAG		0.488	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_002280		20	146	0	0	0	0.055883	0	20	146					T	39635994	C	T	39635994	3	4	382	1	0	0	0	0	1	0	0	0	8472	864	30	2	880	2	KRT35	17	39635994	Missense_Mutation	SNP	C	TCGA-ET-A3BT-01A-11D-A19J-08	37432431	39635994	41559216	15	7965											
PPP4R1	9989	broad.mit.edu	37	chr18	9588150	9588150	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcagctctatgaggacaggGcacactttggtctccacatc	10	12	3	1			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr18:9588150G>A	ENST00000400556.3	-	6	595	c.522C>T	c.(520-522)tgC>tgT	p.C174C	RP11-881L2.1_ENST00000584109.1_RNA|PPP4R1_ENST00000400555.3_Silent_p.C157C|PPP4R1_ENST00000580583.1_5'UTR	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	174					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						TGAGGACAGGGCACACTTTGG	0.448																																					Melanoma(188;1232 2082 5061 11948 35994)	ENST00000400556.3																			0				large_intestine(1)|skin(2)	3						c.(520-522)tgC>tgT		protein phosphatase 4, regulatory subunit 1							70	66	67					18																	9588150		1968	4170	6138	SO:0001819	synonymous_variant	9989				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	g.chr18:9588150G>A	AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.522C>T	18.37:g.9588150G>A						PPP4R1_ENST00000580583.1_5'UTR|PPP4R1_ENST00000400555.3_Silent_p.C157C|RP11-881L2.1_ENST00000584109.1_RNA	p.C174C	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN			6	595	-			174					Q99774|Q9UNQ7	Silent	SNP	ENST00000400556.3	37	c.522C>T	CCDS42412.1																																																																																				0.448	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134		3	32	0	0	0	0.115264	0	3	32					A	9588150	G	A	9588150	2	1	382	1	0	0	0	0	0	0	0	1	12403	1195	42	2		2	PPP4R1	18	9588150	Silent	SNP	G	TCGA-ET-A3BT-01A-11D-A19J-08		9588150	68489098	16	7966											
TTC39C	125488	broad.mit.edu	37	chr18	21660663	21660663	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaagctaactgaagagtcctTgacttctgatgctgcaaatg	10	8	1	4			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr18:21660663T>A	ENST00000317571.3	+	5	811	c.575T>A	c.(574-576)tTg>tAg	p.L192*	RP11-403A21.3_ENST00000578443.1_RNA|TTC39C_ENST00000578150.1_3'UTR|TTC39C_ENST00000304621.6_Nonsense_Mutation_p.L131*	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	192										breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						GAAGAGTCCTTGACTTCTGAT	0.448																																						ENST00000317571.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						c.(574-576)tTg>tAg		tetratricopeptide repeat domain 39C							136	130	132					18																	21660663		2203	4300	6503	SO:0001587	stop_gained	125488						binding	g.chr18:21660663T>A	AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"Tetratricopeptide (TTC) repeat domain containing"	26595	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 17"	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.575T>A	18.37:g.21660663T>A	ENSP00000323645:p.Leu192*					RP11-403A21.3_ENST00000578443.1_RNA|TTC39C_ENST00000304621.6_Nonsense_Mutation_p.L131*|TTC39C_ENST00000578150.1_3'UTR	p.L192*	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN			5	811	+			192					B7WP63|J3QRR1|Q0VAJ2|Q8N284	Nonsense_Mutation	SNP	ENST00000317571.3	37	c.575T>A	CCDS45839.1	.	.	.	.	.	.	.	.	.	.	t	34	5.359971	0.95877	.	.	ENSG00000168234	ENST00000304621;ENST00000317571	.	.	.	5.2	4.03	0.46877	.	0.595344	0.16935	N	0.193507	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.9486	10.1785	0.42952	0.0:0.0772:0.0:0.9228	.	.	.	.	X	131;192	.	ENSP00000306598:L131X	L	+	2	0	TTC39C	19914661	1.000000	0.71417	0.977000	0.42913	0.924000	0.55760	3.312000	0.51927	1.069000	0.40788	0.451000	0.29950	TTG		0.448	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446107.1	NM_153211		24	44	0	0	0	0.083992	0	24	44					A	21660663	T	A	21660663	4	1	382	1	0	0	0	0	0	1	0	0	16706	1821	63	5	593	5	TTC39C	18	21660663	Nonsense_Mutation	SNP	T	TCGA-ET-A3BT-01A-11D-A19J-08	12072513	21660663	56416585	17	7967											
DSC3	1825	broad.mit.edu	37	chr18	28602425	28602425	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcgcgtatgcattgtgtcCggttcatctctgtctgtggc	13	10	3	0	rs374250811		TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr18:28602425C>T	ENST00000360428.4	-	7	899	c.819G>A	c.(817-819)ccG>ccA	p.P273P	DSC3_ENST00000434452.1_Silent_p.P273P	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	273	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GCATTGTGTCCGGTTCATCTC	0.438																																						ENST00000434452.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(817-819)ccG>ccA		desmocollin 3		C	,	1,4405	2.1+/-5.4	0,1,2202	149	128	135		819,819	-9.8	0.0	18		135	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	DSC3	NM_001941.3,NM_024423.2	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	273/897,273/840	28602425	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28602425C>T	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"Cadherins / Major cadherins"	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.819G>A	18.37:g.28602425C>T						DSC3_ENST00000360428.4_Silent_p.P273P	p.P273P	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		7	973	-			273			Cadherin 2.		A6NN35|Q14200|Q9HAZ9	Silent	SNP	ENST00000360428.4	37	c.819G>A	CCDS32810.1																																																																																				0.438	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		22	34	0	0	0	0.083992	0	22	34					T	28602425	C	T	28602425	2	4	382	1	0	0	0	0	0	0	0	1	4767	639	23	1		1	DSC3	18	28602425	Silent	SNP	C	TCGA-ET-A3BT-01A-11D-A19J-08	6941762	28602425	49474823	18	7968											
C19orf35	374872	broad.mit.edu	37	chr19	2278644	2278644	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacgcggtaatacagggcgTccccgctctctgcgcagggt	13	15	1	0			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr19:2278644T>C	ENST00000342063.3	-	3	644	c.551A>G	c.(550-552)gAc>gGc	p.D184G		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	184										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				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)		ATACAGGGCGTCCCCGCTCTC	0.726																																						ENST00000342063.3																			0				large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8						c.(550-552)gAc>gGc		chromosome 19 open reading frame 35							22	22	22					19																	2278644		2192	4289	6481	SO:0001583	missense	374872							g.chr19:2278644T>C	AK127680	CCDS12087.1	19p13.3	2012-10-26			ENSG00000188305	ENSG00000188305			24793	protein-coding gene	gene with protein product							Standard	NM_198532		Approved	FLJ45778	uc002lvn.2	Q6ZS72	OTTHUMG00000178460	ENST00000342063.3:c.551A>G	19.37:g.2278644T>C	ENSP00000345102:p.Asp184Gly						p.D184G	NM_198532.2	NP_940934.1	Q6ZS72	CS035_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)	3	644	-			184						Missense_Mutation	SNP	ENST00000342063.3	37	c.551A>G	CCDS12087.1	.	.	.	.	.	.	.	.	.	.	T	12.07	1.827991	0.32329	.	.	ENSG00000188305	ENST00000342063	T	0.29655	1.56	4.37	4.37	0.52481	.	.	.	.	.	T	0.46964	0.1420	M	0.72894	2.215	0.30669	N	0.753621	D	0.57257	0.979	P	0.55824	0.785	T	0.54159	-0.8335	9	0.72032	D	0.01	.	10.9441	0.47292	0.0:0.0:0.0:1.0	.	184	Q6ZS72	CS035_HUMAN	G	184	ENSP00000345102:D184G	ENSP00000345102:D184G	D	-	2	0	C19orf35	2229644	0.306000	0.24490	0.356000	0.25785	0.080000	0.17528	2.592000	0.46171	1.597000	0.50072	0.368000	0.22195	GAC		0.726	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442080.1	NM_198532		6	9	0	0	0	0.02938	0	6	9					C	2278644	T	C	2278644	3	2	382	1	0	0	0	0	1	0	0	0	1920	1667	58	3	878	3	C19orf35	19	2278644	Missense_Mutation	SNP	T	TCGA-ET-A3BT-01A-11D-A19J-08		2278644	56850339	19	7969											
ILF3	3609	broad.mit.edu	37	chr19	10798066	10798066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctgggaatgccagtggcGgtggcggcgggggcggtggt	22	7	1	0	rs200928937	byFrequency	TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr19:10798066G>A	ENST00000590261.1	+	17	2104	c.2104G>A	c.(2104-2106)Ggt>Agt	p.G702S	ILF3_ENST00000449870.1_Missense_Mutation_p.G706S|ILF3_ENST00000318511.3_Missense_Mutation_p.G702S|ILF3_ENST00000588657.1_Missense_Mutation_p.G706S			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	702	Interaction with PRMT1.|Poly-Gly.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TGCCAGTGGCGGTGGCGGCGG	0.627													G|||	4	0.000798722	0	0.0043	5008	,	,		9806	0		0.001	False		,,,				2504	0					ENST00000449870.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(2116-2118)Ggt>Agt		interleukin enhancer binding factor 3, 90kDa		G	SER/GLY,SER/GLY	0,3920		0,0,1960	13	15	14		2104,2116	3.5	1.0	19		14	31,7683		1,29,3827	yes	missense,missense	ILF3	NM_012218.3,NM_017620.2	56,56	1,29,5787	AA,AG,GG		0.4019,0.0,0.2665	probably-damaging,probably-damaging	702/895,706/899	10798066	31,11603	1960	3857	5817	SO:0001583	missense	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10798066G>A	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"M-phase phosphoprotein 4"	603182	"interleukin enhancer binding factor 3, 90kD"			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.2104G>A	19.37:g.10798066G>A	ENSP00000468156:p.Gly702Ser					ILF3_ENST00000318511.3_Missense_Mutation_p.G702S|ILF3_ENST00000590261.1_Missense_Mutation_p.G702S|ILF3_ENST00000588657.1_Missense_Mutation_p.G706S	p.G706S	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		18	2433	+			702			Interaction with PRMT1.|Poly-Gly.		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	c.2116G>A	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.227167	0.39399	0.0	0.004019	ENSG00000129351	ENST00000449870;ENST00000318511	T;T	0.13538	2.58;2.58	4.59	3.52	0.40303	.	0.501216	0.20763	N	0.086124	T	0.21674	0.0522	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.987	T	0.01316	-1.1387	10	0.38643	T	0.18	.	9.1021	0.36676	0.1169:0.0:0.8831:0.0	.	706;702	G5E9M5;Q12906	.;ILF3_HUMAN	S	706;702	ENSP00000404121:G706S;ENSP00000315205:G702S	ENSP00000315205:G702S	G	+	1	0	ILF3	10659066	0.998000	0.40836	0.988000	0.46212	0.947000	0.59692	3.246000	0.51414	1.061000	0.40601	0.655000	0.94253	GGT		0.627	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			4	16	0	0	0	0.009096	0	4	16					A	10798066	G	A	10798066	3	1	382	1	0	0	0	0	1	0	0	0	7712	1116	39	1	2254	1	ILF3	19	10798066	Missense_Mutation	SNP	G	TCGA-ET-A3BT-01A-11D-A19J-08	8519422	10798066	48330917	20	7970											
FAM187B	148109	broad.mit.edu	37	chr19	35719205	35719205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggtctcgttctgcagggGcctctgacccaggtccttgt	13	13	3	1			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr19:35719205G>A	ENST00000324675.3	-	1	427	c.379C>T	c.(379-381)Ccc>Tcc	p.P127S		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	127						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						TTCTGCAGGGGCCTCTGACCC	0.562																																						ENST00000324675.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						c.(379-381)Ccc>Tcc		family with sequence similarity 187, member B							113	107	109					19																	35719205		2203	4300	6503	SO:0001583	missense	148109					integral to membrane		g.chr19:35719205G>A	AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"transmembrane protein 162"	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.379C>T	19.37:g.35719205G>A	ENSP00000323355:p.Pro127Ser						p.P127S	NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN			1	427	-			127					Q8N7G6	Missense_Mutation	SNP	ENST00000324675.3	37	c.379C>T	CCDS12448.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528018	0.64860	.	.	ENSG00000177558	ENST00000324675	T	0.28666	1.6	5.26	2.91	0.33838	.	0.000000	0.49916	D	0.000121	T	0.49150	0.1540	M	0.66939	2.045	0.36347	D	0.859828	D	0.76494	0.999	D	0.68765	0.96	T	0.60870	-0.7177	10	0.59425	D	0.04	-42.912	11.4746	0.50291	0.0:0.3513:0.6487:0.0	.	127	Q17R55	F187B_HUMAN	S	127	ENSP00000323355:P127S	ENSP00000323355:P127S	P	-	1	0	FAM187B	40411045	0.979000	0.34478	0.863000	0.33907	0.021000	0.10359	1.948000	0.40303	1.308000	0.44962	0.655000	0.94253	CCC		0.562	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378854.1	NM_152481		48	72	0	0	0	0.139131	0	48	72					A	35719205	G	A	35719205	3	1	382	1	0	0	0	0	1	0	0	0	5513	1203	42	2	738	2	FAM187B	19	35719205	Missense_Mutation	SNP	G	TCGA-ET-A3BT-01A-11D-A19J-08	24921139	35719205	23409778	21	7971											
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-													ctggttgggtttgcacttcaTcctcgaggcagcctcctcga					rs78182391		TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			4	8						4	8	---	---	---	---	-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	382	1	0	1	0	1	0	0	0	0	10727	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-ET-A3BT-01A-11D-A19J-08		51239296	104031264	22	7972											
RNF128	79589	broad.mit.edu	37	chrX	106016280	106016281	+	Frame_Shift_Ins	INS	-	-	T													ttgggtgaatcactattcaaINStttttttcgtttctgtgtcc							TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chrX:106016280_106016281insT	ENST00000255499.2	+	2	872_873	c.622_623insT	c.(622-624)attfs	p.I208fs	RNF128_ENST00000324342.3_Frame_Shift_Ins_p.I182fs	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	208					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						TCACTATTCAATTTTTTTCGTT	0.391																																						ENST00000255499.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						c.(622-624)tttfs		ring finger protein 128, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:106016280_106016281insT	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	ENST00000255499.2:c.629dupT	X.37:g.106016287_106016287dupT	ENSP00000255499:p.Ile208fs					RNF128_ENST00000324342.3_Frame_Shift_Ins_p.F182fs	p.F208fs	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN			2	872_873	+			208					A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Frame_Shift_Ins	INS	ENST00000255499.2	37	c.622_623insT	CCDS14521.1																																																																																				0.391	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1	NM_024539		49	90						49	90	---	---	---	---	T	106016281	-	T	106016280	7	5	382	1	0	1	1	0	0	0	0	0	13436	101	4	0	1038	0	RNF128	23	106016280	Frame_Shift_Ins	INS	-	TCGA-ET-A3BT-01A-11D-A19J-08	54776984	106016280	49254280	23	7973											
CT45A5	441521	broad.mit.edu	37	chrX	134947924	134947924	+	Missense_Mutation	SNP	A	A	T													tacttcgtccaaggcatcggAtttccttcactacttgacat							TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chrX:134947924A>T	ENST00000463085.2	-	3	490	c.401T>A	c.(400-402)aTc>aAc	p.I134N	CT45A5_ENST00000491480.1_Missense_Mutation_p.I134N|CT45A4_ENST00000420087.2_Intron|CT45A5_ENST00000370724.3_Missense_Mutation_p.I134N			Q6NSH3	CT455_HUMAN	cancer/testis antigen family 45, member A5	134										endometrium(1)|large_intestine(2)|lung(6)	9						AAGGCATCGGATTTCCTTCAC	0.378																																						ENST00000370724.3																			0				endometrium(1)|large_intestine(2)|lung(6)	9						c.(400-402)aTc>aAc		cancer/testis antigen family 45, member A5							204	170	182					X																	134947924		2187	4265	6452	SO:0001583	missense	441521							g.chrX:134947924A>T	AY743713	CCDS35406.1	Xq26.3	2009-03-12				ENSG00000269586			33270	protein-coding gene	gene with protein product	"cancer/testis antigen CT45-5"	300796				15905330	Standard	XM_006724759		Approved	CT45-5, CT45.5	uc022ces.1	Q6NSH3		ENST00000463085.2:c.401T>A	X.37:g.134947924A>T	ENSP00000424778:p.Ile134Asn					CT45A5_ENST00000491480.1_Missense_Mutation_p.I134N|CT45A4_ENST00000420087.2_Intron	p.I134N	NM_001007551.3|NM_001172288.1	NP_001007552.1|NP_001165759.1	Q6NSH3	CT455_HUMAN			3	645	-			134					A8K842|B7ZMC5	Missense_Mutation	SNP	ENST00000463085.2	37	c.401T>A	CCDS35406.1	.	.	.	.	.	.	.	.	.	.	A	12.20	1.865520	0.32977	.	.	ENSG00000242284	ENST00000370724;ENST00000491480	T;T	0.54675	0.56;0.56	2.4	2.4	0.29515	.	0.235442	0.35555	U	0.003128	T	0.52386	0.1731	M	0.73962	2.25	0.09310	N	1	P	0.39022	0.655	B	0.42851	0.4	T	0.51505	-0.8697	10	0.87932	D	0	0.1753	6.0505	0.19783	1.0:0.0:0.0:0.0	.	134	Q6NSH3	CT455_HUMAN	N	134	ENSP00000359759:I134N;ENSP00000425997:I134N	ENSP00000359759:I134N	I	-	2	0	CT45A5	134775590	0.345000	0.24835	0.003000	0.11579	0.003000	0.03518	4.091000	0.57700	0.974000	0.38366	0.299000	0.19835	ATC		0.378	CT45A5-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472589.1	NM_001007551		35	55	0	0	0	0.059317	0	35	55					T	134947924	A	T	134947924	3	4	382	1	0	0	0	0	1	0	0	0	3988	333	12	5	180	5	CT45A5	23	134947924	Missense_Mutation	SNP	A	TCGA-ET-A3BT-01A-11D-A19J-08	28931644	134947924	20322636	24	7974	47	2									
CT45A5	441521	broad.mit.edu	37	chrX	134947928	134947928	+	Missense_Mutation	SNP	C	C	G													tcgtccaaggcatcggatttCcttcactacttgacatttta							TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chrX:134947928C>G	ENST00000463085.2	-	3	486	c.397G>C	c.(397-399)Gaa>Caa	p.E133Q	CT45A5_ENST00000491480.1_Missense_Mutation_p.E133Q|CT45A4_ENST00000420087.2_Intron|CT45A5_ENST00000370724.3_Missense_Mutation_p.E133Q			Q6NSH3	CT455_HUMAN	cancer/testis antigen family 45, member A5	133								p.E133*(1)		endometrium(1)|large_intestine(2)|lung(6)	9						CATCGGATTTCCTTCACTACT	0.388																																						ENST00000370724.3																			1	Substitution - Nonsense(1)	p.E133*(1)	lung(1)	endometrium(1)|large_intestine(2)|lung(6)	9						c.(397-399)Gaa>Caa		cancer/testis antigen family 45, member A5							209	174	186					X																	134947928		2188	4266	6454	SO:0001583	missense	441521							g.chrX:134947928C>G	AY743713	CCDS35406.1	Xq26.3	2009-03-12				ENSG00000269586			33270	protein-coding gene	gene with protein product	"cancer/testis antigen CT45-5"	300796				15905330	Standard	XM_006724759		Approved	CT45-5, CT45.5	uc022ces.1	Q6NSH3		ENST00000463085.2:c.397G>C	X.37:g.134947928C>G	ENSP00000424778:p.Glu133Gln					CT45A5_ENST00000491480.1_Missense_Mutation_p.E133Q|CT45A4_ENST00000420087.2_Intron	p.E133Q	NM_001007551.3|NM_001172288.1	NP_001007552.1|NP_001165759.1	Q6NSH3	CT455_HUMAN			3	641	-			133					A8K842|B7ZMC5	Missense_Mutation	SNP	ENST00000463085.2	37	c.397G>C	CCDS35406.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.788780	0.31685	.	.	ENSG00000242284	ENST00000370724;ENST00000491480	T;T	0.62105	0.05;0.05	2.4	1.46	0.22682	.	0.000000	0.85682	U	0.000000	T	0.74152	0.3679	M	0.80332	2.49	0.09310	N	1	D	0.67145	0.996	D	0.75484	0.986	T	0.63042	-0.6725	10	0.87932	D	0	-3.4548	5.7026	0.17891	0.3195:0.6805:0.0:0.0	.	133	Q6NSH3	CT455_HUMAN	Q	133	ENSP00000359759:E133Q;ENSP00000425997:E133Q	ENSP00000359759:E133Q	E	-	1	0	CT45A5	134775594	0.998000	0.40836	0.013000	0.15412	0.005000	0.04900	2.054000	0.41335	0.206000	0.20587	0.365000	0.22127	GAA		0.388	CT45A5-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472589.1	NM_001007551		35	57	0	0	0	0.054565	0	35	57					G	134947928	C	G	134947928	3	3	382	1	0	0	0	0	1	0	0	0	3988	864	30	4	184	4	CT45A5	23	134947928	Missense_Mutation	SNP	C	TCGA-ET-A3BT-01A-11D-A19J-08	4	134947928	20322632	25	7975	47	2									
GABRE	2564	broad.mit.edu	37	chrX	151138777	151138777	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcagttgactttgtttcctCagagaggagctgattttcca	9	9	2	3	rs61730040	byFrequency	TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chrX:151138777C>T	ENST00000370328.3	-	2	207	c.154G>A	c.(154-156)Gag>Aag	p.E52K	GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370325.1_Missense_Mutation_p.E52K	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	52					gamma-aminobutyric acid signaling pathway (GO:0007214)|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)	p.E52K(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				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)	TTTGTTTCCTCAGAGAGGAGC	0.507													c|||	7	0.0018543	0	0.0014	3775	,	,		13801	0		0.004	False		,,,				2504	0.002					ENST00000370325.1																			1	Substitution - Missense(1)	p.E52K(1)	lung(1)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.(154-156)Gag>Aag		gamma-aminobutyric acid (GABA) A receptor, epsilon			LYS/GLU	0,3835		0,0,0,1632,571	138	129	132		154	3.2	0.0	X	dbSNP_129	132	50,6678		0,32,18,2396,1854	yes	missense	GABRE	NM_004961.3	56	0,32,18,4028,2425	TT,TC,T,CC,C		0.7432,0.0,0.4734	benign	52/507	151138777	50,10513	2203	4300	6503	SO:0001583	missense	2564				gamma-aminobutyric acid signaling pathway	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.chrX:151138777C>T	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4085	protein-coding gene	gene with protein product	"GABA(A) receptor, epsilon"	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.154G>A	X.37:g.151138777C>T	ENSP00000359353:p.Glu52Lys					GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.E52K	p.E52K			P78334	GBRE_HUMAN			2	207	-	Acute lymphoblastic leukemia(192;6.56e-05)		52					E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	c.154G>A	CCDS14703.1	3	0.0018083182640144665	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	c	12.03	1.814300	0.32053	0.0	0.007432	ENSG00000102287	ENST00000370328;ENST00000370325	T;T	0.78816	-1.21;-0.62	4.11	3.23	0.37069	.	.	.	.	.	T	0.48554	0.1506	N	0.08118	0	0.23144	N	0.998228	B	0.17038	0.02	B	0.12156	0.007	T	0.43782	-0.9370	9	0.45353	T	0.12	.	6.232	0.20740	0.0:0.8602:0.0:0.1398	.	52	P78334	GBRE_HUMAN	K	52	ENSP00000359353:E52K;ENSP00000359350:E52K	ENSP00000359350:E52K	E	-	1	0	GABRE	150889433	0.000000	0.05858	0.006000	0.13384	0.005000	0.04900	-0.070000	0.11523	1.053000	0.40415	0.597000	0.82753	GAG		0.507	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		7	170	0	0	0	0.038147	0	7	170					T	151138777	C	T	151138777	3	4	382	1	0	0	0	0	1	0	0	0	6170	835	29	2	1398	2	GABRE	23	151138777	Missense_Mutation	SNP	C	TCGA-ET-A3BT-01A-11D-A19J-08	16190849	151138777	4131783	26	7976											
IPO11	51194	broad.mit.edu	37	chr5	61832571	61832571	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacttgctttaagatcatcaAtggttatatctttttatcat	4	6	4	1			TCGA-ET-A3BU-01A-11D-A19J-08	TCGA-ET-A3BU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6cd1-82ec-438e-b236-2ac5e9355d65	305bd469-d052-44cf-9a97-986cfbc9d686	g.chr5:61832571A>G	ENST00000325324.6	+	23	2301	c.2132A>G	c.(2131-2133)aAt>aGt	p.N711S	KIF2A_ENST00000509663.2_3'UTR|IPO11_ENST00000409296.3_Missense_Mutation_p.N751S	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	711					ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		AAGATCATCAATGGTTATATC	0.239																																						ENST00000325324.6																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30						c.(2131-2133)aAt>aGt		importin 11							63	68	66					5																	61832571		2199	4287	6486	SO:0001583	missense	51194					cytoplasm|nucleus	protein binding	g.chr5:61832571A>G	AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"Importins"	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.2132A>G	5.37:g.61832571A>G	ENSP00000316651:p.Asn711Ser					IPO11_ENST00000409296.3_Missense_Mutation_p.N751S|KIF2A_ENST00000509663.2_3'UTR	p.N711S	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN		Lung(70;0.0613)	23	2301	+		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)	711					A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Missense_Mutation	SNP	ENST00000325324.6	37	c.2132A>G	CCDS34167.1	.	.	.	.	.	.	.	.	.	.	A	15.72	2.918225	0.52546	.	.	ENSG00000086200	ENST00000325324;ENST00000409296;ENST00000540553	T;T	0.64991	-0.13;-0.13	5.66	5.66	0.87406	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.50939	0.1645	L	0.40543	1.245	0.80722	D	1	B;B	0.27559	0.181;0.06	B;B	0.24541	0.054;0.013	T	0.46925	-0.9156	10	0.13853	T	0.58	.	14.1139	0.65139	1.0:0.0:0.0:0.0	.	751;711	Q9UI26-2;Q9UI26	.;IPO11_HUMAN	S	711;751;281	ENSP00000316651:N711S;ENSP00000386992:N751S	ENSP00000316651:N711S	N	+	2	0	IPO11	61868328	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.824000	0.75288	2.161000	0.67846	0.528000	0.53228	AAT		0.239	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335062.1	NM_016338		10	25	0	0	0	0.013537	0	10	25					G	61832571	A	G	61832571	3	3	383	1	0	0	0	0	1	0	0	0	7793	101	4	3	2342	3	IPO11	5	61832571	Missense_Mutation	SNP	A	TCGA-ET-A3BU-01A-11D-A19J-08		61832571	119082689	1	7977											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A3BU-01A-11D-A19J-08	TCGA-ET-A3BU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6cd1-82ec-438e-b236-2ac5e9355d65	305bd469-d052-44cf-9a97-986cfbc9d686	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		27	47	0	0	0	0.007291	0	27	47					T	140453136	A	T	140453136	3	4	383	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A3BU-01A-11D-A19J-08		140453136	18685527	2	7978											
EPPK1	83481	broad.mit.edu	37	chr8	144940596	144940596	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacagcctcaggttgcgcaCggggtcgatgacgaagccgg	16	12	1	1	rs373172474	byFrequency	TCGA-ET-A3BU-01A-11D-A19J-08	TCGA-ET-A3BU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6cd1-82ec-438e-b236-2ac5e9355d65	305bd469-d052-44cf-9a97-986cfbc9d686	g.chr8:144940596C>T	ENST00000525985.1	-	2	6897	c.6826G>A	c.(6826-6828)Gtg>Atg	p.V2276M				P58107	EPIPL_HUMAN	epiplakin 1	2276						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGGTTGCGCACGGGGTCGATG	0.726													C|||	3	0.000599042	0.0023	0	5008	,	,		67247	0		0	False		,,,				2504	0					ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6826-6828)Gtg>Atg		epiplakin 1		C	MET/VAL	3,4315		0,3,2156	50	47	48		6826	3.7	1.0	8		48	0,8474		0,0,4237	no	missense	EPPK1	NM_031308.1	21	0,3,6393	TT,TC,CC		0.0,0.0695,0.0235	benign	2276/2420	144940596	3,12789	2159	4237	6396	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940596C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6826G>A	8.37:g.144940596C>T	ENSP00000436337:p.Val2276Met						p.V2276M			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	6897	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2276					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6826G>A		.	.	.	.	.	.	.	.	.	.	C	19.57	3.851552	0.71719	6.95E-4	0.0	ENSG00000227184	ENST00000525985	T	0.74315	-0.83	4.63	3.71	0.42584	.	.	.	.	.	T	0.81307	0.4795	M	0.73962	2.25	0.27201	N	0.960165	D	0.63880	0.993	P	0.62813	0.907	T	0.70824	-0.4767	9	0.46703	T	0.11	.	5.869	0.18793	0.0:0.6813:0.2121:0.1066	.	2276	E9PPU0	.	M	2276	ENSP00000436337:V2276M	ENSP00000436337:V2276M	V	-	1	0	EPPK1	145012584	0.000000	0.05858	0.996000	0.52242	0.994000	0.84299	-0.654000	0.05354	2.416000	0.81992	0.586000	0.80456	GTG		0.726	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		5	41	0	0	0	0.014758	0	5	41					T	144940596	C	T	144940596	3	4	383	1	0	0	0	0	1	0	0	0	5190	536	19	1	440	1	EPPK1	8	144940596	Missense_Mutation	SNP	C	TCGA-ET-A3BU-01A-11D-A19J-08		144940596	1423426	3	7979											
C9orf106	414318	broad.mit.edu	37	chr9	132084622	132084622	+	RNA	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cagagcactgatgcccggggGacactgccctttgtgtgtcc	13	13	0	2			TCGA-ET-A3BU-01A-11D-A19J-08	TCGA-ET-A3BU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6cd1-82ec-438e-b236-2ac5e9355d65	305bd469-d052-44cf-9a97-986cfbc9d686	g.chr9:132084622G>T	ENST00000316786.1	+	0	583							Q8NAJ2	CI106_HUMAN	chromosome 9 open reading frame 106											large_intestine(1)|lung(1)|ovary(1)|skin(1)	4		Ovarian(14;0.00556)|Medulloblastoma(224;0.235)				ATGCCCGGGGGACACTGCCCT	0.597																																						ENST00000316786.1																			0				large_intestine(1)|lung(1)|ovary(1)|skin(1)	4								chromosome 9 open reading frame 106							42	45	44					9																	132084622		1978	4162	6140			414318							g.chr9:132084622G>T	AK092588		9q34.11	2013-12-05	2013-12-05	2013-12-05	ENSG00000179082	ENSG00000179082			31370	other	unknown							Standard	NM_001012715		Approved	bA65J3.5	uc004bxs.2	Q8NAJ2	OTTHUMG00000020781		9.37:g.132084622G>T										Q8NAJ2	CI106_HUMAN			0	583	+		Ovarian(14;0.00556)|Medulloblastoma(224;0.235)							RNA	SNP	ENST00000316786.1	37																																																																																						0.597	C9orf106-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000054576.2			9	22	1	0	7.48243e-07	0.006214	9.52309e-07	9	22					T	132084622	G	T	132084622	1	4	383	0	1	0	0	0	0	0	0	0	2447	1174	41	4		4	C9orf106	9	132084622	RNA	SNP	G	TCGA-ET-A3BU-01A-11D-A19J-08		132084622	9128809	4	7980											
FAM35A	54537	broad.mit.edu	37	chr10	88939978	88939978	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggttgtgcaaaatgtggaTtggaactagaaacagatgag	13	4	0	3			TCGA-ET-A3BU-01A-11D-A19J-08	TCGA-ET-A3BU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6cd1-82ec-438e-b236-2ac5e9355d65	305bd469-d052-44cf-9a97-986cfbc9d686	g.chr10:88939978T>C	ENST00000298784.1	+	7	2224	c.2110T>C	c.(2110-2112)Ttg>Ctg	p.L704L	FAM35A_ENST00000298786.4_Silent_p.L773L	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	704										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						AAAATGTGGATTGGAACTAGA	0.363																																					Ovarian(175;703 2004 25460 32514 43441)	ENST00000298786.4																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						c.(2317-2319)Ttg>Ctg		family with sequence similarity 35, member A							38	43	41					10																	88939978		2203	4286	6489	SO:0001819	synonymous_variant	54537							g.chr10:88939978T>C	BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.2110T>C	10.37:g.88939978T>C						FAM35A_ENST00000298784.1_Silent_p.L704L	p.L773L			Q86V20	FA35A_HUMAN			8	2431	+			704					O95885|Q9H991	Silent	SNP	ENST00000298784.1	37	c.2317T>C	CCDS7383.1	.	.	.	.	.	.	.	.	.	.	T	4.294	0.053775	0.08291	.	.	ENSG00000122376	ENST00000342900	.	.	.	2.87	-2.59	0.06209	.	.	.	.	.	T	0.27967	0.0689	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32587	-0.9901	4	.	.	.	1.7288	6.0297	0.19673	0.0:0.4725:0.1577:0.3698	.	.	.	.	T	427	.	.	I	+	2	0	FAM35A	88929958	0.000000	0.05858	0.144000	0.22314	0.870000	0.49936	-0.905000	0.04075	-0.396000	0.07703	0.352000	0.21897	ATT		0.363	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054		15	37	0	0	0	0.006122	0	15	37					C	88939978	T	C	88939978	2	2	383	1	0	0	0	0	0	0	0	1	5553	1490	52	3		3	FAM35A	10	88939978	Silent	SNP	T	TCGA-ET-A3BU-01A-11D-A19J-08		88939978	46594769	5	7981											
PPRC1	23082	broad.mit.edu	37	chr10	103899202	103899202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagctggtgcgggccatgCacccatactgcctgcccaac	12	15	0	1			TCGA-ET-A3BU-01A-11D-A19J-08	TCGA-ET-A3BU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6cd1-82ec-438e-b236-2ac5e9355d65	305bd469-d052-44cf-9a97-986cfbc9d686	g.chr10:103899202C>T	ENST00000278070.2	+	5	976	c.937C>T	c.(937-939)Cac>Tac	p.H313Y	PPRC1_ENST00000370012.1_5'Flank|PPRC1_ENST00000413464.2_Missense_Mutation_p.H313Y	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	313					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GCGGGCCATGCACCCATACTG	0.582																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(937-939)Cac>Tac		peroxisome proliferator-activated receptor gamma, coactivator-related 1							81	65	70					10																	103899202		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103899202C>T	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.937C>T	10.37:g.103899202C>T	ENSP00000278070:p.His313Tyr					PPRC1_ENST00000413464.2_Missense_Mutation_p.H313Y	p.H313Y	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	5	976	+		Colorectal(252;0.122)	313					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.937C>T	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.512011	0.64522	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.53640	0.61;0.61	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000002	T	0.61825	0.2378	L	0.32530	0.975	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.996	T	0.62992	-0.6736	10	0.87932	D	0	.	19.8248	0.96612	0.0:1.0:0.0:0.0	.	313;193;313	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	Y	313	ENSP00000278070:H313Y;ENSP00000399743:H313Y	ENSP00000278070:H313Y	H	+	1	0	PPRC1	103889192	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.630000	0.74272	2.791000	0.96007	0.511000	0.50034	CAC		0.582	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		16	39	0	0	0	0.024245	0	16	39					T	103899202	C	T	103899202	3	4	383	1	0	0	0	0	1	0	0	0	12410	710	25	2	955	2	PPRC1	10	103899202	Missense_Mutation	SNP	C	TCGA-ET-A3BU-01A-11D-A19J-08	14959224	103899202	31635545	6	7982											
VEGFB	7423	broad.mit.edu	37	chr11	64005048	64005048	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accagcgccctgacccccggAcctgccgctgccgctgccga	11	21	0	1			TCGA-ET-A3BU-01A-11D-A19J-08	TCGA-ET-A3BU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6cd1-82ec-438e-b236-2ac5e9355d65	305bd469-d052-44cf-9a97-986cfbc9d686	g.chr11:64005048A>C	ENST00000309422.2	+	6	863	c.567A>C	c.(565-567)ggA>ggC	p.G189G	VEGFB_ENST00000426086.2_Missense_Mutation_p.T156P	NM_001243733.1|NM_003377.4	NP_001230662.1|NP_003368.1	P49765	VEGFB_HUMAN	vascular endothelial growth factor B	189					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|coronary vasculature development (GO:0060976)|induction of positive chemotaxis (GO:0050930)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of vascular wound healing (GO:0035470)|protein O-linked glycosylation (GO:0006493)|response to drug (GO:0042493)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|heparin binding (GO:0008201)|vascular endothelial growth factor receptor 1 binding (GO:0043183)			endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6					Aflibercept(DB08885)	TGACCCCCGGACCTGCCGCTG	0.711																																						ENST00000426086.2																			0				endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6						c.(466-468)Acc>Ccc		vascular endothelial growth factor B							7	8	8					11																	64005048		2097	4151	6248	SO:0001819	synonymous_variant	7423				anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway	extracellular region|extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding	g.chr11:64005048A>C	BC008818	CCDS8062.1, CCDS58144.1	11q13	2005-09-29				ENSG00000173511			12681	protein-coding gene	gene with protein product		601398		VRF		8637916, 8919691	Standard	NM_001243733		Approved	VEGFL	uc001nyw.3	P49765		ENST00000309422.2:c.567A>C	11.37:g.64005048A>C						VEGFB_ENST00000309422.2_Silent_p.G189G	p.T156P			P49765	VEGFB_HUMAN			6	480	+			149					Q16528	Missense_Mutation	SNP	ENST00000309422.2	37	c.466A>C	CCDS8062.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.54|15.54	2.863730|2.863730	0.51482|0.51482	.|.	.|.	ENSG00000173511|ENSG00000173511	ENST00000541681|ENST00000426086	.|.	.|.	.|.	4.86|4.86	4.86|4.86	0.63082|0.63082	.|.	.|.	.|.	.|.	.|.	T|T	0.58666|0.58666	0.2138|0.2138	.|.	.|.	.|.	0.19775|0.19775	N|N	0.99995|0.99995	.|D	.|0.71674	.|0.998	.|D	.|0.68943	.|0.961	T|T	0.51718|0.51718	-0.8670|-0.8670	4|7	.|0.87932	.|D	.|0	-0.3664|-0.3664	8.2815|8.2815	0.31902|0.31902	0.8235:0.0:0.0:0.1765|0.8235:0.0:0.0:0.1765	.|.	.|156	.|P49765-2	.|.	A|P	14|156	.|.	.|ENSP00000401550:T156P	D|T	+|+	2|1	0|0	VEGFB|VEGFB	63761624|63761624	0.973000|0.973000	0.33851|0.33851	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	1.485000|1.485000	0.35519|0.35519	1.973000|1.973000	0.57446|0.57446	0.459000|0.459000	0.35465|0.35465	GAC|ACC		0.711	VEGFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396393.2	NM_003377		5	2	0	0	0	0.004482	0	5	2					C	64005048	A	C	64005048	2	2	383	1	0	0	0	0	0	0	0	1	17148	262	10	5		5	VEGFB	11	64005048	Silent	SNP	A	TCGA-ET-A3BU-01A-11D-A19J-08		64005048	71001468	7	7983											
GIT1	28964	broad.mit.edu	37	chr17	27910005	27910005	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttgtgcggggtccagcagGgagtgctcccagatggagtt	16	9	0	1			TCGA-ET-A3BU-01A-11D-A19J-08	TCGA-ET-A3BU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6cd1-82ec-438e-b236-2ac5e9355d65	305bd469-d052-44cf-9a97-986cfbc9d686	g.chr17:27910005G>A	ENST00000225394.3	-	3	485	c.237C>T	c.(235-237)tcC>tcT	p.S79S	RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Silent_p.S79S|GIT1_ENST00000579937.1_Silent_p.S79S|GIT1_ENST00000581348.1_Silent_p.S79S	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	79	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		GGTCCAGCAGGGAGTGCTCCC	0.627																																					Colon(81;41 1719 20078 35068)	ENST00000225394.3																			0				large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(235-237)tcC>tcT		G protein-coupled receptor kinase interacting ArfGAP 1							57	58	58					17																	27910005		2203	4300	6503	SO:0001819	synonymous_variant	28964				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr17:27910005G>A	AF124490	CCDS11250.1, CCDS42290.1	17p11.2	2013-01-10	2008-09-05		ENSG00000108262	ENSG00000108262		"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	4272	protein-coding gene	gene with protein product		608434	"G protein-coupled receptor kinase interactor 1"			9826657, 10896954	Standard	NM_014030		Approved		uc002heg.2	Q9Y2X7	OTTHUMG00000132730	ENST00000225394.3:c.237C>T	17.37:g.27910005G>A						GIT1_ENST00000581348.1_Silent_p.S79S|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Silent_p.S79S|GIT1_ENST00000579937.1_Silent_p.S79S	p.S79S	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN		READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)	3	485	-			79			Arf-GAP.		B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	Silent	SNP	ENST00000225394.3	37	c.237C>T	CCDS11250.1																																																																																				0.627	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1	NM_014030		17	44	0	0	0	0.006122	0	17	44					A	27910005	G	A	27910005	2	1	383	1	0	0	0	0	0	0	0	1	6396	1219	43	2		2	GIT1	17	27910005	Silent	SNP	G	TCGA-ET-A3BU-01A-11D-A19J-08		27910005	53285205	8	7984											
CDC42EP4	23580	broad.mit.edu	37	chr17	71282217	71282217	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggccttcttcacggggctGgatgacaggctcttgggcag	15	10	3	1			TCGA-ET-A3BU-01A-11D-A19J-08	TCGA-ET-A3BU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6cd1-82ec-438e-b236-2ac5e9355d65	305bd469-d052-44cf-9a97-986cfbc9d686	g.chr17:71282217G>A	ENST00000335793.3	-	2	817	c.423C>T	c.(421-423)tcC>tcT	p.S141S	CDC42EP4_ENST00000439510.2_Silent_p.S71S|CDC42EP4_ENST00000581014.1_Intron			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	141					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			TCACGGGGCTGGATGACAGGC	0.652																																						ENST00000335793.3																			0				cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14						c.(421-423)tcC>tcT		CDC42 effector protein (Rho GTPase binding) 4							51	51	51					17																	71282217		2203	4300	6503	SO:0001819	synonymous_variant	23580				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding	g.chr17:71282217G>A	AB042237	CCDS11695.1	17q24-q25	2008-07-18				ENSG00000179604			17147	protein-coding gene	gene with protein product	"Cdc42 effector protein 4", "binder of Rho GTPases 4"	605468				11035016, 10490598	Standard	NM_012121		Approved	CEP4, KAIA1777, BORG4, MGC3740, MGC17125	uc002jjo.3	Q9H3Q1		ENST00000335793.3:c.423C>T	17.37:g.71282217G>A						CDC42EP4_ENST00000581014.1_Intron|CDC42EP4_ENST00000439510.2_Silent_p.S71S	p.S141S			Q9H3Q1	BORG4_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)		2	817	-			141					B3KUS7|O95828|Q96FT3	Silent	SNP	ENST00000335793.3	37	c.423C>T	CCDS11695.1																																																																																				0.652	CDC42EP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441898.1	NM_012121		3	47	0	0	0	0.004672	0	3	47					A	71282217	G	A	71282217	2	1	383	1	0	0	0	0	0	0	0	1	3078	1335	47	2		2	CDC42EP4	17	71282217	Silent	SNP	G	TCGA-ET-A3BU-01A-11D-A19J-08	43372212	71282217	9912993	9	7985											
ISYNA1	51477	broad.mit.edu	37	chr19	18547917	18547918	+	Splice_Site	INS	-	-	G													gccgtagtagttggcctcctINSgggggtcagcagacacggcg							TCGA-ET-A3BU-01A-11D-A19J-08	TCGA-ET-A3BU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6cd1-82ec-438e-b236-2ac5e9355d65	305bd469-d052-44cf-9a97-986cfbc9d686	g.chr19:18547917_18547918insG	ENST00000338128.8	-	4	500		c.e4-2		ISYNA1_ENST00000457269.4_Splice_Site|ISYNA1_ENST00000545187.1_Intron|ISYNA1_ENST00000578963.1_5'UTR|ISYNA1_ENST00000317018.6_Splice_Site	NM_001170938.1|NM_016368.4	NP_001164409.1|NP_057452.1	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1						inositol biosynthetic process (GO:0006021)|inositol phosphate metabolic process (GO:0043647)|phospholipid biosynthetic process (GO:0008654)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-3-phosphate synthase activity (GO:0004512)			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						GTTGGCCTCCTGGGGGTCAGCA	0.698																																						ENST00000338128.7																			0				breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						c.e4-2		inositol-3-phosphate synthase 1																																				SO:0001630	splice_region_variant	51477				inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity	g.chr19:18547917_18547918insG		CCDS12379.1, CCDS54234.1, CCDS62603.1	19p13.11	2014-09-04			ENSG00000105655	ENSG00000105655	5.5.1.4		29821	protein-coding gene	gene with protein product	"myo-inositol 1-phosphate synthase"	611670				15024000, 12941308	Standard	NM_016368		Approved	Ino1, INOS, IPS	uc002njd.2	Q9NPH2	OTTHUMG00000179027	ENST00000338128.8:c.283-2->C	19.37:g.18547922_18547922dupG						ISYNA1_ENST00000545187.1_Intron|ISYNA1_ENST00000457269.3_Splice_Site|ISYNA1_ENST00000317018.6_Splice_Site|ISYNA1_ENST00000578963.1_5'UTR		NM_016368.4	NP_057452.1	Q9NPH2	INO1_HUMAN			4	500	-								B3KRT1|G5E9U0|Q6NXT5|Q7Z525|Q9BT65|Q9H2Y2|Q9NSU0|Q9NVW7	Splice_Site	INS	ENST00000338128.8	37		CCDS12379.1																																																																																				0.698	ISYNA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444469.2	NM_016368	Intron	2	4						2	4	---	---	---	---	G	18547918	-	G	18547917	8	5	383	1	0	1	1	0	0	0	1	0	7867	1594	55	0	1427	0	ISYNA1	19	18547917	Splice_Site	INS	-	TCGA-ET-A3BU-01A-11D-A19J-08		18547917	40581066	10	7986											
CDC42	998	broad.mit.edu	37	chr1	22412941	22412941	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttttttctagggcaagaggAttatgacagattacgaccgc	10	8	1	3			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr1:22412941A>T	ENST00000344548.3	+	5	439	c.188A>T	c.(187-189)gAt>gTt	p.D63V	CDC42_ENST00000421089.2_Missense_Mutation_p.D105V|CDC42_ENST00000400259.1_Missense_Mutation_p.D63V|CDC42_ENST00000498236.1_3'UTR|CDC42_ENST00000315554.8_Missense_Mutation_p.D63V	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN	cell division cycle 42	63					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cellular protein localization (GO:0034613)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell-cell adhesion (GO:0090136)|epithelial-mesenchymal cell signaling (GO:0060684)|establishment of Golgi localization (GO:0051683)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|heart contraction (GO:0060047)|innate immune response (GO:0045087)|keratinization (GO:0031424)|keratinocyte development (GO:0003334)|macrophage differentiation (GO:0030225)|multicellular organism growth (GO:0035264)|muscle cell differentiation (GO:0042692)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of gene expression (GO:0010629)|negative regulation of protein complex assembly (GO:0031333)|neuron fate determination (GO:0048664)|nuclear migration (GO:0007097)|nucleus localization (GO:0051647)|organelle transport along microtubule (GO:0072384)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of JNK cascade (GO:0046330)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of synapse structural plasticity (GO:0051835)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of filopodium assembly (GO:0051489)|regulation of mitosis (GO:0007088)|regulation of protein catabolic process (GO:0042176)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein kinase activity (GO:0045859)|regulation of protein stability (GO:0031647)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|sprouting angiogenesis (GO:0002040)|submandibular salivary gland formation (GO:0060661)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	apical part of cell (GO:0045177)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|leading edge membrane (GO:0031256)|membrane (GO:0016020)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|spindle midzone (GO:0051233)	apolipoprotein A-I receptor binding (GO:0034191)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		GGGCAAGAGGATTATGACAGA	0.373																																						ENST00000344548.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12						c.(187-189)gAt>gTt		cell division cycle 42							117	118	117					1																	22412941		2203	4300	6503	SO:0001583	missense	998				actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding	g.chr1:22412941A>T	BC018266	CCDS221.1, CCDS222.1	1p36.1	2013-01-17	2013-01-17		ENSG00000070831	ENSG00000070831			1736	protein-coding gene	gene with protein product	"GTP binding protein, 25kDa"	116952	"cell division cycle 42 (GTP-binding protein, 25kD)", "cell division cycle 42 (GTP binding protein, 25kDa)"			2124704, 2122236	Standard	NM_001039802		Approved	G25K, CDC42Hs	uc001bfr.3	P60953	OTTHUMG00000002753	ENST00000344548.3:c.188A>T	1.37:g.22412941A>T	ENSP00000341072:p.Asp63Val					CDC42_ENST00000315554.8_Missense_Mutation_p.D63V|CDC42_ENST00000498236.1_3'UTR|CDC42_ENST00000421089.2_Missense_Mutation_p.D105V|CDC42_ENST00000400259.1_Missense_Mutation_p.D63V	p.D63V	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)	5	439	+		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)	63					P21181|P25763|Q7L8R5|Q9UDI2	Missense_Mutation	SNP	ENST00000344548.3	37	c.188A>T	CCDS221.1	.	.	.	.	.	.	.	.	.	.	a	20.7	4.031071	0.75504	.	.	ENSG00000070831	ENST00000400259;ENST00000344548;ENST00000315554;ENST00000421089;ENST00000411827	T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1	5.4	4.27	0.50696	Small GTP-binding protein domain (1);	0.042947	0.85682	D	0.000000	D	0.90469	0.7015	H	0.95780	3.72	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;1.0;0.998;0.993	D;D;D;D;D	0.91635	0.999;0.993;0.999;0.993;0.984	D	0.91349	0.5103	10	0.87932	D	0	.	10.4847	0.44715	0.9223:0.0:0.0777:0.0	.	105;108;105;63;63	E7ETU3;B4E1U9;B4DMH5;P60953;P60953-1	.;.;.;CDC42_HUMAN;.	V	63;63;63;105;63	ENSP00000383118:D63V;ENSP00000341072:D63V;ENSP00000314458:D63V;ENSP00000398592:D105V;ENSP00000398327:D63V	ENSP00000314458:D63V	D	+	2	0	CDC42	22285528	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.062000	0.93920	0.979000	0.38497	0.528000	0.53228	GAT		0.373	CDC42-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007787.1	NM_001791		14	69	0	0	0	0.500413	0	14	69					T	22412941	A	T	22412941	3	4	384	1	0	0	0	0	1	0	0	0	3071	333	12	5	198	5	CDC42	1	22412941	Missense_Mutation	SNP	A	TCGA-ET-A3BV-01A-11D-A19J-08		22412941	226837680	1	7987											
FPGT	8790	broad.mit.edu	37	chr1	74665386	74665397	+	In_Frame_Del	DEL	GCAATAACAGCG	GCAATAACAGCG	-													gagaattctgggacatagttGcaataacagcggctgatgaa					rs202113178|rs201158336|rs200882722		TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr1:74665386_74665397delGCAATAACAGCG	ENST00000609362.1	+	2	158_169	c.121_132delGCAATAACAGCG	c.(121-132)gcaataacagcgdel	p.AITA41del	LRRIQ3_ENST00000354431.4_5'Flank|FPGT-TNNI3K_ENST00000370893.1_In_Frame_Del_p.AITA41del|FPGT-TNNI3K_ENST00000370899.3_In_Frame_Del_p.AITA41del|FPGT_ENST00000534056.1_In_Frame_Del_p.AITA41del|FPGT-TNNI3K_ENST00000370895.1_In_Frame_Del_p.AITA41del|FPGT-TNNI3K_ENST00000557284.2_In_Frame_Del_p.AITA54del|FPGT_ENST00000482102.2_In_Frame_Del_p.AITA63del|FPGT_ENST00000524915.1_3'UTR|LRRIQ3_ENST00000370909.2_5'Flank|FPGT_ENST00000467578.2_In_Frame_Del_p.AITA54del|LRRIQ3_ENST00000370911.3_5'Flank|TNNI3K_ENST00000370891.2_In_Frame_Del_p.AITA41del|FPGT-TNNI3K_ENST00000533006.1_3'UTR|FPGT_ENST00000370894.5_In_Frame_Del_p.AITA41del|FPGT_ENST00000370898.3_In_Frame_Del_p.AITA54del	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	41					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						GGACATAGTTGCAATAACAGCGGCTGATGAAA	0.392																																						ENST00000370895.1																			0											c.(121-132)del																																						SO:0001651	inframe_deletion	0					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74665386_74665397delGCAATAACAGCG	AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.121_132delGCAATAACAGCG	1.37:g.74665386_74665397delGCAATAACAGCG	ENSP00000476680:p.Ala41_Ala44del					FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.AITA41del|FPGT_ENST00000370894.4_In_Frame_Del_p.AITA41del|FPGT_ENST00000524915.1_In_Frame_Del_p.AITA41del|FPGT_ENST00000534056.1_In_Frame_Del_p.AITA41del|FPGT_ENST00000482102.2_In_Frame_Del_p.AITA63del|TNNI3K_ENST00000370893.1_In_Frame_Del_p.AITA41del|FPGT_ENST00000467578.2_In_Frame_Del_p.AITA41del|TNNI3K_ENST00000370891.2_In_Frame_Del_p.AITA41del|FPGT_ENST00000370898.2_In_Frame_Del_p.AITA41del|FPGT-TNNI3K_ENST00000370899.3_In_Frame_Del_p.AITA41del	p.AITA41del			Q59H18	TNI3K_HUMAN			2	156_167	+			0					A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	In_Frame_Del	DEL	ENST00000609362.1	37	c.121_132delGCAATAACAGCG	CCDS663.1																																																																																				0.392	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				15	63						15	63	---	---	---	---	-	74665397	GCAATAACAGCG	-	74665386	7	5	384	1	0	1	0	1	0	0	0	0	6037	1319	46	0	127	0	FPGT	1	74665386	In_Frame_Del	DEL	GCAATAACAGCG	TCGA-ET-A3BV-01A-11D-A19J-08	52252445	74665386	174585235	2	7988											
IGFN1	91156	broad.mit.edu	37	chr1	201183351	201183351	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggctgacatggaagtgcaGccgggggaggccgccacact	16	12	0	1			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr1:201183351G>A	ENST00000335211.4	+	13	8905	c.8775G>A	c.(8773-8775)caG>caA	p.Q2925Q	IGFN1_ENST00000295591.8_Silent_p.Q85Q|IGFN1_ENST00000451870.2_Silent_p.Q468Q	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	468						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGGAAGTGCAGCCGGGGGAGG	0.657																																						ENST00000335211.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(8773-8775)caG>caA		immunoglobulin-like and fibronectin type III domain containing 1							40	33	35					1																	201183351		2203	4300	6503	SO:0001819	synonymous_variant	91156							g.chr1:201183351G>A	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.8775G>A	1.37:g.201183351G>A						IGFN1_ENST00000295591.8_Silent_p.Q85Q|IGFN1_ENST00000451870.2_Silent_p.Q468Q	p.Q2925Q	NM_001164586.1	NP_001158058.1					13	8905	+								F8WAI1|Q9NT72	Silent	SNP	ENST00000335211.4	37	c.8775G>A	CCDS53455.1	.	.	.	.	.	.	.	.	.	.	G	4.064	0.009686	0.07912	.	.	ENSG00000163395	ENST00000412892	.	.	.	3.39	2.45	0.29901	.	.	.	.	.	T	0.34745	0.0908	.	.	.	0.09310	N	0.999992	.	.	.	.	.	.	T	0.21211	-1.0252	4	.	.	.	.	8.0536	0.30591	0.1197:0.0:0.8803:0.0	.	.	.	.	T	343	.	.	A	+	1	0	IGFN1	199449974	0.001000	0.12720	0.004000	0.12327	0.098000	0.18820	0.179000	0.16840	0.597000	0.29811	0.313000	0.20887	GCC		0.657	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		10	28	0	0	0	0.335167	0	10	28					A	201183351	G	A	201183351	2	1	384	1	0	0	0	0	0	0	0	1	7590	962	34	2		2	IGFN1	1	201183351	Silent	SNP	G	TCGA-ET-A3BV-01A-11D-A19J-08	126517965	201183351	48067270	3	7989											
TGOLN2	10618	broad.mit.edu	37	chr2	85552043	85552043	+	Frame_Shift_Del	DEL	G	G	-													ctcctccttccttaccttctGgtccaaacgttggtagtcac							TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr2:85552043delG	ENST00000409232.3	-	3	1364	c.1303delC	c.(1303-1305)cagfs	p.Q435fs	TGOLN2_ENST00000444342.2_Frame_Shift_Del_p.Q435fs|TGOLN2_ENST00000398263.2_Frame_Shift_Del_p.Q377fs|TGOLN2_ENST00000282120.2_Frame_Shift_Del_p.Q279fs|TGOLN2_ENST00000409015.1_Frame_Shift_Del_p.Q435fs|TGOLN2_ENST00000377386.3_Frame_Shift_Del_p.Q435fs			O43493	TGON2_HUMAN	trans-golgi network protein 2	435						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											CTTACCTTCTGGTCCAAACGT	0.502																																						ENST00000377386.3																			0											c.(1303-1305)agfs		trans-golgi network protein 2							79	83	81					2																	85552043		1944	4102	6046	SO:0001589	frameshift_variant	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85552043delG	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"trans-Golgi network protein (46, 48, 51kD isoforms)"	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.1303delC	2.37:g.85552043delG	ENSP00000386443:p.Gln435fs					TGOLN2_ENST00000409015.1_Frame_Shift_Del_p.Q435fs|TGOLN2_ENST00000398263.2_Frame_Shift_Del_p.Q377fs|TGOLN2_ENST00000282120.2_Frame_Shift_Del_p.Q279fs|TGOLN2_ENST00000409232.3_Frame_Shift_Del_p.Q435fs|TGOLN2_ENST00000444342.2_Frame_Shift_Del_p.Q435fs	p.Q435fs			O43493	TGON2_HUMAN			3	1765	-			435					B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Frame_Shift_Del	DEL	ENST00000409232.3	37	c.1303delC	CCDS56126.1																																																																																				0.502	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		2	4						2	4	---	---	---	---	-	85552043	G	-	85552043	7	5	384	1	0	1	0	1	0	0	0	0	15833	1357	47	0	18	0	TGOLN2	2	85552043	Frame_Shift_Del	DEL	G	TCGA-ET-A3BV-01A-11D-A19J-08		85552043	157647330	4	7990											
RGPD3	653489	broad.mit.edu	37	chr2	107040372	107040372	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aacaacttgttcattttcctCaccactggatacttcaacta	3	12	3	0	rs200719868	byFrequency	TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr2:107040372C>G	ENST00000409886.3	-	20	4138	c.4051G>C	c.(4051-4053)Gag>Cag	p.E1351Q	RGPD3_ENST00000304514.7_Missense_Mutation_p.E1351Q	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1351	RanBD1 2. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCATTTTCCTCACCACTGGAT	0.378													.|||	543	0.108427	0.09	0.147	5008	,	,		20531	0.1071		0.0755	False		,,,				2504	0.1411					ENST00000409886.3																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(4051-4053)Gag>Cag		RANBP2-like and GRIP domain containing 3							26	20	22					2																	107040372		692	1575	2267	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107040372C>G		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.4051G>C	2.37:g.107040372C>G	ENSP00000386588:p.Glu1351Gln					RGPD3_ENST00000304514.7_Missense_Mutation_p.E1351Q	p.E1351Q	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			20	4138	-			1351			RanBD1 2.		B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.4051G>C	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	12.54	1.967980	0.34754	.	.	ENSG00000153165	ENST00000409886;ENST00000304514	T;T	0.63913	-0.07;-0.07	2.35	2.35	0.29111	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	D	0.83367	0.5239	H	0.96175	3.78	0.31067	P	0.713471	D	0.89917	1.0	D	0.91635	0.999	D	0.88933	0.3374	8	0.87932	D	0	-28.7296	10.4115	0.44296	0.0:1.0:0.0:0.0	.	1351	A6NKT7	RGPD3_HUMAN	Q	1351	ENSP00000386588:E1351Q;ENSP00000303659:E1351Q	ENSP00000303659:E1351Q	E	-	1	0	RGPD3	106406804	1.000000	0.71417	1.000000	0.80357	0.386000	0.30323	7.578000	0.82498	1.314000	0.45095	0.186000	0.17326	GAG		0.378	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		7	279	0	0	0	0.248553	0	7	279					G	107040372	C	G	107040372	3	3	384	1	0	0	0	0	1	0	0	0	13287	835	29	4	1241	4	RGPD3	2	107040372	Missense_Mutation	SNP	C	TCGA-ET-A3BV-01A-11D-A19J-08	21488329	107040372	136159001	5	7991											
TFPI	7035	broad.mit.edu	37	chr2	188332580	188332580	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggcatttcccaatgactgaAttgtagtagaatctgttctc	8	9	2	3			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr2:188332580A>G	ENST00000233156.3	-	7	1002	c.708T>C	c.(706-708)aaT>aaC	p.N236N	TFPI_ENST00000392365.1_Silent_p.N236N|AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	236	BPTI/Kunitz inhibitor 3. {ECO:0000255|PROSITE-ProRule:PRU00031}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)|Dalteparin(DB06779)	CAATGACTGAATTGTAGTAGA	0.413																																						ENST00000233156.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9						c.(706-708)aaT>aaC		tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	Coagulation factor VIIa(DB00036)						142	133	136					2																	188332580		2203	4300	6503	SO:0001819	synonymous_variant	7035				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr2:188332580A>G		CCDS2294.1, CCDS33349.1	2q32	2008-06-02			ENSG00000003436	ENSG00000003436			11760	protein-coding gene	gene with protein product	"extrinsic pathway inhibitor"	152310		LACI		1993173	Standard	XM_005246818		Approved	EPI, TFI, TFPI1	uc002upy.3	P10646	OTTHUMG00000132634	ENST00000233156.3:c.708T>C	2.37:g.188332580A>G						TFPI_ENST00000392365.1_Silent_p.N236N|AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA	p.N236N	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0554)		7	1002	-			236			BPTI/Kunitz inhibitor 3.		O95103|Q53TS4	Silent	SNP	ENST00000233156.3	37	c.708T>C	CCDS2294.1																																																																																				0.413	TFPI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255881.1	NM_006287		17	69	0	0	0	0.592651	0	17	69					G	188332580	A	G	188332580	2	3	384	1	0	0	0	0	0	0	0	1	15805	98	4	3		3	TFPI	2	188332580	Silent	SNP	A	TCGA-ET-A3BV-01A-11D-A19J-08	81292208	188332580	54866793	6	7992											
ACSL3	2181	broad.mit.edu	37	chr2	223789308	223789308	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacgtaatactccactgtgCgacaggtaagtaaagactct	10	9	1	1			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr2:223789308C>T	ENST00000357430.3	+	11	1818	c.1287C>T	c.(1285-1287)tgC>tgT	p.C429C	ACSL3_ENST00000392066.3_Silent_p.C429C	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	429					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)	CTCCACTGTGCGACAGGTAAG	0.323			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.(1285-1287)tgC>tgT		acyl-CoA synthetase long-chain family member 3	Icosapent(DB00159)						84	83	83					2																	223789308		2203	4300	6503	SO:0001819	synonymous_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.chr2:223789308C>T	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.1287C>T	2.37:g.223789308C>T						ACSL3_ENST00000392066.3_Silent_p.C429C	p.C429C	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)	11	1818	+		Renal(207;0.0183)	429					Q60I92|Q8IUM9	Silent	SNP	ENST00000357430.3	37	c.1287C>T	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.959629	0.34565	.	.	ENSG00000123983	ENST00000407441	.	.	.	5.77	3.41	0.39046	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-17.0096	8.9034	0.35507	0.0:0.2363:0.0:0.7637	.	.	.	.	X	13	.	.	R	+	1	2	ACSL3	223497552	1.000000	0.71417	0.945000	0.38365	0.390000	0.30446	1.065000	0.30592	0.458000	0.26988	-0.482000	0.04802	CGA		0.323	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457		3	54	0	0	0	0.115264	0	3	54					T	223789308	C	T	223789308	2	4	384	1	0	0	0	0	0	0	0	1	178	776	27	1		1	ACSL3	2	223789308	Silent	SNP	C	TCGA-ET-A3BV-01A-11D-A19J-08	35456728	223789308	19410065	7	7993											
IMPDH2	3615	broad.mit.edu	37	chr3	49064023	49064023	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tcatattgatctggaagatgGaatttccctgggaagagtcc	11	7	2	3			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr3:49064023G>C	ENST00000326739.4	-	8	878	c.839C>G	c.(838-840)tCc>tGc	p.S280C	RP13-131K19.6_ENST00000607245.1_RNA	NM_000884.2	NP_000875.2			IMP (inosine 5'-monophosphate) dehydrogenase 2											breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTGGAAGATGGAATTTCCCTG	0.468																																						ENST00000326739.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16						c.(838-840)tCc>tGc		IMP (inosine 5'-monophosphate) dehydrogenase 2	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)						123	109	114					3																	49064023		2203	4300	6503	SO:0001583	missense	3615				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding	g.chr3:49064023G>C		CCDS2786.1	3p21.2	2014-05-15	2010-04-29		ENSG00000178035	ENSG00000178035	1.1.1.205		6053	protein-coding gene	gene with protein product		146691				9858805, 1969416	Standard	XM_006713128		Approved		uc003cvt.3	P12268	OTTHUMG00000156771	ENST00000326739.4:c.839C>G	3.37:g.49064023G>C	ENSP00000321584:p.Ser280Cys						p.S280C	NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	8	878	-			280						Missense_Mutation	SNP	ENST00000326739.4	37	c.839C>G	CCDS2786.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.234856|4.234856	0.79800|0.79800	.|.	.|.	ENSG00000178035|ENSG00000178035	ENST00000429182|ENST00000537036;ENST00000326739;ENST00000442157	.|D;D	.|0.82344	.|-1.6;-1.6	5.53|5.53	5.53|5.53	0.82687|0.82687	.|Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94775|0.94775	0.8313|0.8313	H|H	0.97491|0.97491	4.015|4.015	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.78314	.|0.991	D|D	0.96332|0.96332	0.9244|0.9244	5|10	.|0.87932	.|D	.|0	-19.0911|-19.0911	19.4574|19.4574	0.94900|0.94900	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|280	.|P12268	.|IMDH2_HUMAN	L|C	211|280;280;255	.|ENSP00000321584:S280C;ENSP00000403502:S255C	.|ENSP00000321584:S280C	F|S	-|-	3|2	2|0	IMPDH2|IMPDH2	49039027|49039027	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.706000|9.706000	0.98722|0.98722	2.604000|2.604000	0.88044|0.88044	0.591000|0.591000	0.81541|0.81541	TTC|TCC		0.468	IMPDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345657.1			5	78	0	0	0	0.248553	0	5	78					C	49064023	G	C	49064023	3	2	384	1	0	0	0	0	1	0	0	0	7727	1174	41	4	733	4	IMPDH2	3	49064023	Missense_Mutation	SNP	G	TCGA-ET-A3BV-01A-11D-A19J-08		49064023	148958407	8	7994											
C3orf67	200844	broad.mit.edu	37	chr3	58849302	58849302	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctcttcactgctgtcgccGccgtaaaaatcatcctctga	6	15	4	1	rs148755922		TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr3:58849302G>T	ENST00000482387.1	-	8	1296	c.1200C>A	c.(1198-1200)ggC>ggA	p.G400G	C3orf67_ENST00000295966.7_Silent_p.G400G|RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000463703.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA|C3orf67_ENST00000472469.1_Silent_p.G307G			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	400										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		TGCTGTCGCCGCCGTAAAAAT	0.423																																						ENST00000472469.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19						c.(919-921)ggC>ggA		chromosome 3 open reading frame 67							69	62	64					3																	58849302		2203	4300	6503	SO:0001819	synonymous_variant	200844							g.chr3:58849302G>T	AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.1200C>A	3.37:g.58849302G>T						RP11-147N17.1_ENST00000463703.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA|C3orf67_ENST00000482387.1_Silent_p.G400G|RP11-147N17.1_ENST00000482372.1_RNA|C3orf67_ENST00000295966.7_Silent_p.G400G	p.G307G			Q6ZVT6	CC067_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)	11	1759	-		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)	400					B9EKV6|Q6ZV69	Silent	SNP	ENST00000482387.1	37	c.921C>A																																																																																					0.423	C3orf67-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000353803.1	NM_198463		6	35	1	0	0.00198382	0.248553	0.00216836	6	35					T	58849302	G	T	58849302	2	4	384	1	0	0	0	0	0	0	0	1	2241	1074	38	4		4	C3orf67	3	58849302	Silent	SNP	G	TCGA-ET-A3BV-01A-11D-A19J-08	9785279	58849302	139173128	9	7995											
C3orf21	152002	broad.mit.edu	37	chr3	194991296	194991296	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctcaccttgcacttgaaGccagcggcgggcggcaggag	15	14	1	1			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr3:194991296G>A	ENST00000310380.6	-	1	600	c.492C>T	c.(490-492)ggC>ggT	p.G164G		NM_152531.4	NP_689744.3	Q8NBI6	XXLT1_HUMAN	xyloside xylosyltransferase 1	164						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring pentosyl groups (GO:0016763)										TGCACTTGAAGCCAGCGGCGG	0.711																																						ENST00000310380.6																			0											c.(490-492)ggC>ggT		xyloside xylosyltransferase 1							4	4	4					3																	194991296		1149	2811	3960	SO:0001819	synonymous_variant	152002					integral to membrane	transferase activity, transferring glycosyl groups	g.chr3:194991296G>A	AK075551	CCDS43188.1	3q29	2013-02-22	2011-10-19	2011-10-19	ENSG00000173950	ENSG00000173950		"Glycosyltransferase family 8 domain containing"	26639	protein-coding gene	gene with protein product		614552	"chromosome 3 open reading frame 21"	C3orf21		22117070	Standard	NM_152531		Approved	FLJ35155	uc003fum.4	Q8NBI6	OTTHUMG00000155915	ENST00000310380.6:c.492C>T	3.37:g.194991296G>A							p.G164G	NM_152531.4	NP_689744.3	Q8NBI6	CC021_HUMAN			1	600	-			164					D3DNW5|Q8NAL3|Q8WV03|Q96ME0	Silent	SNP	ENST00000310380.6	37	c.492C>T	CCDS43188.1																																																																																				0.711	XXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342290.1	NM_152531		3	6	0	0	0	0.115264	0	3	6					A	194991296	G	A	194991296	2	1	384	1	0	0	0	0	0	0	0	1	2214	958	34	2		2	C3orf21	3	194991296	Silent	SNP	G	TCGA-ET-A3BV-01A-11D-A19J-08	136141994	194991296	3031134	10	7996											
ARHGAP26	23092	broad.mit.edu	37	chr5	142393652	142393652	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttattttccaggtctacaActcgaacaaagacagccaga	6	10	1	2			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr5:142393652A>C	ENST00000274498.4	+	12	1493	c.1115A>C	c.(1114-1116)aAc>aCc	p.N372T	ARHGAP26_ENST00000378004.3_Missense_Mutation_p.N372T	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	372					actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGGTCTACAACTCGAACAAA	0.423																																						ENST00000378004.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25						c.(1114-1116)aAc>aCc		Rho GTPase activating protein 26							128	118	122					5																	142393652		2203	4300	6503	SO:0001583	missense	23092				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chr5:142393652A>C	AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"Rho GTPase activating proteins"	17073	protein-coding gene	gene with protein product	"GTPase regulator associated with the focal adhesion kinase pp125"	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.1115A>C	5.37:g.142393652A>C	ENSP00000274498:p.Asn372Thr					ARHGAP26_ENST00000274498.4_Missense_Mutation_p.N372T	p.N372T	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		12	1470	+		all_hematologic(541;0.0416)	372					O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Missense_Mutation	SNP	ENST00000274498.4	37	c.1115A>C	CCDS4277.1	.	.	.	.	.	.	.	.	.	.	A	8.774	0.926734	0.18056	.	.	ENSG00000145819	ENST00000274498;ENST00000378004;ENST00000451259	T;T;T	0.42131	3.17;3.2;0.98	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.29491	0.0735	L	0.28556	0.865	0.48762	D	0.999702	B;B	0.22480	0.07;0.012	B;B	0.19148	0.024;0.013	T	0.09335	-1.0679	10	0.19147	T	0.46	.	11.6523	0.51297	1.0:0.0:0.0:0.0	.	372;372	Q9UNA1;Q9UNA1-2	RHG26_HUMAN;.	T	372;372;73	ENSP00000274498:N372T;ENSP00000367243:N372T;ENSP00000411571:N73T	ENSP00000274498:N372T	N	+	2	0	ARHGAP26	142373845	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.562000	0.67346	2.008000	0.58898	0.533000	0.62120	AAC		0.423	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071		15	53	0	0	0	0.457914	0	15	53					C	142393652	A	C	142393652	3	2	384	1	0	0	0	0	1	0	0	0	875	43	2	5	1161	5	ARHGAP26	5	142393652	Missense_Mutation	SNP	A	TCGA-ET-A3BV-01A-11D-A19J-08		142393652	38521608	11	7997											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		16	56	0	0	0	0.500413	0	16	56					T	140453136	A	T	140453136	3	4	384	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A3BV-01A-11D-A19J-08		140453136	18685527	12	7998											
SGK223	157285	broad.mit.edu	37	chr8	8176174	8176174	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaagcagacacgatctcGggggccagccgggcctggct	17	12	1	1			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr8:8176174G>A	ENST00000520004.1	-	6	3975	c.3711C>T	c.(3709-3711)ccC>ccT	p.P1237P	SGK223_ENST00000330777.4_Silent_p.P1237P			Q86YV5	SG223_HUMAN		1241	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										ACACGATCTCGGGGGCCAGCC	0.612																																					GBM(34;731 755 10259 33573 33867)	ENST00000520004.1																			0											c.(3709-3711)ccC>ccT									31	35	33					8																	8176174		1916	4126	6042	SO:0001819	synonymous_variant	0						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8176174G>A																												ENST00000520004.1:c.3711C>T	8.37:g.8176174G>A						SGK223_ENST00000330777.4_Silent_p.P1237P	p.P1237P			Q86YV5	SG223_HUMAN			6	3975	-			1237			Protein kinase.		Q8N3N5	Silent	SNP	ENST00000520004.1	37	c.3711C>T	CCDS43706.1																																																																																				0.612	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			3	30	0	0	0	0.115264	0	3	30					A	8176174	G	A	8176174	2	1	384	1	0	0	0	0	0	0	0	1	14210	1103	39	1		1	SGK223	8	8176174	Silent	SNP	G	TCGA-ET-A3BV-01A-11D-A19J-08		8176174	138187848	13	7999											
MTBP	27085	broad.mit.edu	37	chr8	121457748	121457748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctggtgatctggggggaagGaaaattcccgtcggcggcca	17	9	1	1			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr8:121457748G>A	ENST00000305949.1	+	1	83	c.38G>A	c.(37-39)gGa>gAa	p.G13E	MRPL13_ENST00000306185.3_5'Flank	NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	13					cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TGGGGGGAAGGAAAATTCCCG	0.582																																						ENST00000305949.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(37-39)gGa>gAa		Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa							79	80	80					8																	121457748		2203	4300	6503	SO:0001583	missense	27085				cell cycle arrest			g.chr8:121457748G>A		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"MDM2 (mouse double minute 2)-binding protein, 104kD", "Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.38G>A	8.37:g.121457748G>A	ENSP00000303398:p.Gly13Glu						p.G13E	NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		1	83	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		13					B4DUR5|Q9HA89	Missense_Mutation	SNP	ENST00000305949.1	37	c.38G>A	CCDS6333.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.888754	0.52014	.	.	ENSG00000172167	ENST00000305949	.	.	.	5.15	0.202	0.15190	.	0.145914	0.44483	D	0.000442	T	0.22589	0.0545	N	0.17082	0.46	0.09310	N	1	B;B	0.20052	0.006;0.041	B;B	0.23150	0.018;0.044	T	0.13361	-1.0512	9	0.41790	T	0.15	-11.3452	6.6322	0.22863	0.2591:0.1238:0.6171:0.0	.	13;13	Q96DY7;B4DUR5	MTBP_HUMAN;.	E	13	.	ENSP00000303398:G13E	G	+	2	0	MTBP	121526929	0.100000	0.21855	0.182000	0.23118	0.782000	0.44232	0.192000	0.17096	0.075000	0.16796	0.448000	0.29417	GGA		0.582	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		11	89	0	0	0	0.38729	0	11	89					A	121457748	G	A	121457748	3	1	384	1	0	0	0	0	1	0	0	0	9912	1174	41	2	40	2	MTBP	8	121457748	Missense_Mutation	SNP	G	TCGA-ET-A3BV-01A-11D-A19J-08	113281574	121457748	24906274	14	8000											
DLG5	9231	broad.mit.edu	37	chr10	79581669	79581669	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcctcctggggggcctGgctccttcctgtcttccagc	12	16	1	0			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr10:79581669G>T	ENST00000372391.2	-	15	2578	c.2573C>A	c.(2572-2574)cCa>cAa	p.P858Q	DLG5_ENST00000459739.1_5'Flank|DLG5_ENST00000372388.2_Intron	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	858					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TGGGGGGCCTGGCTCCTTCCT	0.592																																						ENST00000372391.2																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(2572-2574)cCa>cAa		discs, large homolog 5 (Drosophila)							86	88	87					10																	79581669		2203	4300	6503	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79581669G>T	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.2573C>A	10.37:g.79581669G>T	ENSP00000361467:p.Pro858Gln					DLG5_ENST00000372388.2_Intron	p.P858Q	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		15	2578	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		858					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.2573C>A	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	G	0.112	-1.137099	0.01742	.	.	ENSG00000151208	ENST00000372391;ENST00000372392	T	0.03831	3.79	5.66	-5.35	0.02697	.	1.663530	0.04183	N	0.326935	T	0.02342	0.0072	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.001	T	0.45702	-0.9243	10	0.13108	T	0.6	.	6.953	0.24556	0.5538:0.0:0.211:0.2352	.	748;858	Q8TDM6-4;Q8TDM6	.;DLG5_HUMAN	Q	858;407	ENSP00000361467:P858Q	ENSP00000361467:P858Q	P	-	2	0	DLG5	79251675	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-0.488000	0.06497	-1.589000	0.01625	-0.908000	0.02827	CCA		0.592	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			10	94	1	0	1.08611e-07	0.38729	1.27618e-07	10	94					T	79581669	G	T	79581669	3	4	384	1	0	0	0	0	1	0	0	0	4558	1348	47	4	3258	4	DLG5	10	79581669	Missense_Mutation	SNP	G	TCGA-ET-A3BV-01A-11D-A19J-08		79581669	55953078	15	8001											
OR5AR1	219493	broad.mit.edu	37	chr11	56431736	56431736	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccctctcttgctcagacaCctacatcagtgagatcttgc	8	14	4	2	rs182417012	byFrequency	TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr11:56431736C>A	ENST00000302969.2	+	1	599	c.575C>A	c.(574-576)aCc>aAc	p.T192N		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TGCTCAGACACCTACATCAGT	0.453													C|||	5	0.000998403	0	0	5008	,	,		23361	0.004		0	False		,,,				2504	0.001					ENST00000302969.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						c.(574-576)aCc>aAc		olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)							201	174	183					11																	56431736		2201	4296	6497	SO:0001583	missense	219493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56431736C>A	AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"GPCR / Class A : Olfactory receptors"	15260	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily AR, member 1"				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.575C>A	11.37:g.56431736C>A	ENSP00000302639:p.Thr192Asn						p.T192N	NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN			1	599	+			192					Q6IF61	Missense_Mutation	SNP	ENST00000302969.2	37	c.575C>A	CCDS31535.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	C	13.18	2.158828	0.38119	.	.	ENSG00000172459	ENST00000302969	T	0.00256	8.42	4.8	4.8	0.61643	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000153	T	0.00440	0.0014	M	0.89715	3.055	0.28290	N	0.923576	D	0.76494	0.999	D	0.69824	0.966	T	0.22452	-1.0216	10	0.56958	D	0.05	.	8.8868	0.35409	0.0:0.9:0.0:0.1	.	192	Q8NGP9	O5AR1_HUMAN	N	192	ENSP00000302639:T192N	ENSP00000302639:T192N	T	+	2	0	OR5AR1	56188312	0.176000	0.23096	1.000000	0.80357	0.974000	0.67602	1.857000	0.39399	2.494000	0.84150	0.573000	0.79308	ACC		0.453	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730		22	150	1	0	0.00152264	0.592651	0.00174547	22	150					A	56431736	C	A	56431736	3	1	384	1	0	0	0	0	1	0	0	0	11145	507	18	4	577	4	OR5AR1	11	56431736	Missense_Mutation	SNP	C	TCGA-ET-A3BV-01A-11D-A19J-08		56431736	78574780	16	8002											
SPTBN2	6712	broad.mit.edu	37	chr11	66472833	66472833	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccagagccgccgtgattcCtccagccgggcccgccgcgc	13	20	0	2	rs367863277		TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr11:66472833C>T	ENST00000533211.1	-	15	2245	c.1914G>A	c.(1912-1914)gaG>gaA	p.E638E	SPTBN2_ENST00000309996.2_Silent_p.E638E|SPTBN2_ENST00000529997.1_Silent_p.E638E			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	638					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCCGTGATTCCTCCAGCCGGG	0.697																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(1912-1914)gaG>gaA		spectrin, beta, non-erythrocytic 2		C		0,4322		0,0,2161	19	22	21		1914	2.5	1.0	11		21	2,8504		0,2,4251	no	coding-synonymous	SPTBN2	NM_006946.2		0,2,6412	TT,TC,CC		0.0235,0.0,0.0156		638/2391	66472833	2,12826	2161	4253	6414	SO:0001819	synonymous_variant	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66472833C>T	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.1914G>A	11.37:g.66472833C>T						SPTBN2_ENST00000529997.1_Silent_p.E638E|SPTBN2_ENST00000309996.2_Silent_p.E638E	p.E638E			O15020	SPTN2_HUMAN			15	2245	-			638					O14872|O14873	Silent	SNP	ENST00000533211.1	37	c.1914G>A	CCDS8150.1																																																																																				0.697	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		5	33	0	0	0	0.217242	0	5	33					T	66472833	C	T	66472833	2	4	384	1	0	0	0	0	0	0	0	1	15119	680	24	2		2	SPTBN2	11	66472833	Silent	SNP	C	TCGA-ET-A3BV-01A-11D-A19J-08	10041097	66472833	68533683	17	8003											
CHEK1	1111	broad.mit.edu	37	chr11	125513996	125513996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgcctcagtgaagaaaatGtgaagtactccagttctcag	9	8	2	3	rs34097480		TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr11:125513996G>A	ENST00000534070.1	+	10	1189	c.934G>A	c.(934-936)Gtg>Atg	p.V312M	CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000438015.1_Missense_Mutation_p.V312M|CHEK1_ENST00000278916.3_Missense_Mutation_p.V312M|CHEK1_ENST00000427383.2_Missense_Mutation_p.V328M|CHEK1_ENST00000428830.2_Missense_Mutation_p.V312M|CHEK1_ENST00000524737.1_Missense_Mutation_p.V312M|CHEK1_ENST00000544373.1_Missense_Mutation_p.V312M	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	312			V -> M (in dbSNP:rs34097480). {ECO:0000269|PubMed:17344846}.		cellular response to caffeine (GO:0071313)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to mechanical stimulus (GO:0071260)|chromatin-mediated maintenance of transcription (GO:0048096)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of mitosis (GO:0045839)|peptidyl-threonine phosphorylation (GO:0018107)|regulation of cell proliferation (GO:0042127)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of histone H3-K9 acetylation (GO:2000615)|regulation of mitotic centrosome separation (GO:0046602)|regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010767)|replicative senescence (GO:0090399)	centrosome (GO:0005813)|chromatin (GO:0000785)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	ATP binding (GO:0005524)|histone kinase activity (H3-T11 specific) (GO:0035402)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		TGAAGAAAATGTGAAGTACTC	0.388								Other conserved DNA damage response genes																														ENST00000534070.1																			0				central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26						c.(934-936)Gtg>Atg	Other conserved DNA damage response genes	checkpoint kinase 1							89	87	88					11																	125513996		2201	4299	6500	SO:0001583	missense	1111				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr11:125513996G>A	AF016582, BC017575	CCDS8459.1, CCDS58191.1	11q24.2	2011-11-11	2011-11-11		ENSG00000149554	ENSG00000149554			1925	protein-coding gene	gene with protein product		603078	"CHK1 (checkpoint, S.pombe) homolog", "CHK1 checkpoint homolog (S. pombe)"			9278511, 9382850	Standard	NM_001114121		Approved	CHK1	uc001qcg.4	O14757	OTTHUMG00000165853	ENST00000534070.1:c.934G>A	11.37:g.125513996G>A	ENSP00000435371:p.Val312Met					CHEK1_ENST00000427383.2_Missense_Mutation_p.V328M|CHEK1_ENST00000438015.1_Missense_Mutation_p.V312M|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000428830.2_Missense_Mutation_p.V312M|CHEK1_ENST00000524737.1_Missense_Mutation_p.V312M|CHEK1_ENST00000278916.3_Missense_Mutation_p.V312M|CHEK1_ENST00000544373.1_Missense_Mutation_p.V312M	p.V312M	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)	10	1189	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	312		V -> M (in dbSNP:rs34097480).			A8K934|B4DDD0|B4DSK3|B5BTY6|F5H7S4|H2BI51	Missense_Mutation	SNP	ENST00000534070.1	37	c.934G>A	CCDS8459.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.533973	0.27387	.	.	ENSG00000149554	ENST00000438015;ENST00000427383;ENST00000428830;ENST00000544373;ENST00000534070;ENST00000524737;ENST00000278916	T;T;T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8;1.8;1.8	5.49	4.57	0.56435	Protein kinase-like domain (1);	0.278876	0.38326	N	0.001739	T	0.12433	0.0302	N	0.08118	0	0.34781	D	0.734733	B;B;B;B	0.13594	0.007;0.008;0.002;0.002	B;B;B;B	0.17098	0.012;0.017;0.005;0.005	T	0.11616	-1.0580	10	0.33940	T	0.23	-6.7621	8.2594	0.31775	0.228:0.0:0.772:0.0	rs34097480	312;328;312;312	F5H7S4;E7EPP6;B5BTY6;O14757	.;.;.;CHK1_HUMAN	M	312;328;312;312;312;312;312	ENSP00000388648:V312M;ENSP00000391090:V328M;ENSP00000412504:V312M;ENSP00000442317:V312M;ENSP00000435371:V312M;ENSP00000432890:V312M;ENSP00000278916:V312M	ENSP00000278916:V312M	V	+	1	0	CHEK1	125019206	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.757000	0.55212	2.593000	0.87608	0.655000	0.94253	GTG		0.388	CHEK1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386714.1	NM_001274		8	96	0	0	0	0.27861	0	8	96					A	125513996	G	A	125513996	3	1	384	1	0	0	0	0	1	0	0	0	3334	1377	48	2	968	2	CHEK1	11	125513996	Missense_Mutation	SNP	G	TCGA-ET-A3BV-01A-11D-A19J-08	59041163	125513996	9492520	18	8004											
POSTN	10631	broad.mit.edu	37	chr13	38166263	38166263	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcctttcattccttccAttctcatataaccagggcaa	6	13	2	0			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr13:38166263A>G	ENST00000379747.4	-	3	374	c.257T>C	c.(256-258)aTg>aCg	p.M86T	POSTN_ENST00000379742.4_Missense_Mutation_p.M86T|POSTN_ENST00000379749.4_Missense_Mutation_p.M86T|POSTN_ENST00000541179.1_Missense_Mutation_p.M86T|POSTN_ENST00000379743.4_Missense_Mutation_p.M86T|POSTN_ENST00000541481.1_Missense_Mutation_p.M86T	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	86	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CATTCCTTCCATTCTCATATA	0.333																																						ENST00000379747.4																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(256-258)aTg>aCg		periostin, osteoblast specific factor							70	69	69					13																	38166263		2203	4300	6503	SO:0001583	missense	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38166263A>G	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.257T>C	13.37:g.38166263A>G	ENSP00000369071:p.Met86Thr					POSTN_ENST00000379743.4_Missense_Mutation_p.M86T|POSTN_ENST00000379749.4_Missense_Mutation_p.M86T|POSTN_ENST00000541481.1_Missense_Mutation_p.M86T|POSTN_ENST00000541179.1_Missense_Mutation_p.M86T|POSTN_ENST00000379742.4_Missense_Mutation_p.M86T	p.M86T	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	3	374	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	86			EMI.		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.257T>C	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	A	16.52	3.147665	0.57151	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481;ENST00000538347	D;D;D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77;-2.77;-2.77	5.18	5.18	0.71444	EMI domain (1);FAS1 domain (1);	0.090555	0.85682	D	0.000000	D	0.86422	0.5929	L	0.36672	1.1	0.50039	D	0.999844	B;P;P;P;P;P;P	0.43662	0.304;0.622;0.761;0.481;0.814;0.762;0.761	B;B;B;B;B;B;B	0.41271	0.105;0.275;0.179;0.275;0.32;0.352;0.277	D	0.85225	0.1029	10	0.27082	T	0.32	.	15.3257	0.74160	1.0:0.0:0.0:0.0	.	86;86;86;86;86;86;86	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	T	86;86;86;86;86;86;3	ENSP00000437959:M86T;ENSP00000369073:M86T;ENSP00000369071:M86T;ENSP00000369067:M86T;ENSP00000369066:M86T;ENSP00000437953:M86T	ENSP00000369066:M86T	M	-	2	0	POSTN	37064263	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.880000	0.92407	2.072000	0.62099	0.460000	0.39030	ATG		0.333	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		4	45	0	0	0	0.184627	0	4	45					G	38166263	A	G	38166263	3	3	384	1	0	0	0	0	1	0	0	0	12259	217	8	3	2337	3	POSTN	13	38166263	Missense_Mutation	SNP	A	TCGA-ET-A3BV-01A-11D-A19J-08		38166263	77003615	19	8005											
PTPN21	11099	broad.mit.edu	37	chr14	88945377	88945377	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gcggcctgacgtggtgaggtCggactccgacatggagggca	18	10	0	2			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr14:88945377C>G	ENST00000556564.1	-	13	2682	c.2398G>C	c.(2398-2400)Gac>Cac	p.D800H	PTPN21_ENST00000328736.3_Missense_Mutation_p.D800H	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	800					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GTGGTGAGGTCGGACTCCGAC	0.647																																						ENST00000556564.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2398-2400)Gac>Cac		protein tyrosine phosphatase, non-receptor type 21							42	45	44					14																	88945377		2203	4300	6503	SO:0001583	missense	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88945377C>G	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.2398G>C	14.37:g.88945377C>G	ENSP00000452414:p.Asp800His					PTPN21_ENST00000328736.3_Missense_Mutation_p.D800H	p.D800H	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			13	2682	-			800						Missense_Mutation	SNP	ENST00000556564.1	37	c.2398G>C	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881837	0.72294	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	T;T	0.77620	-1.11;-1.11	5.55	5.55	0.83447	.	0.162484	0.53938	D	0.000053	D	0.88160	0.6362	M	0.72894	2.215	0.49915	D	0.999835	D	0.89917	1.0	D	0.91635	0.999	D	0.88831	0.3305	10	0.87932	D	0	.	19.5084	0.95130	0.0:1.0:0.0:0.0	.	800	Q16825	PTN21_HUMAN	H	800	ENSP00000330276:D800H;ENSP00000452414:D800H	ENSP00000330276:D800H	D	-	1	0	PTPN21	88015130	1.000000	0.71417	0.954000	0.39281	0.354000	0.29330	5.880000	0.69698	2.612000	0.88384	0.655000	0.94253	GAC		0.647	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			8	62	0	0	0	0.27861	0	8	62					G	88945377	C	G	88945377	3	3	384	1	0	0	0	0	1	0	0	0	12786	884	31	4	1154	4	PTPN21	14	88945377	Missense_Mutation	SNP	C	TCGA-ET-A3BV-01A-11D-A19J-08		88945377	18404163	20	8006											
TRIP11	9321	broad.mit.edu	37	chr14	92471796	92471796	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tatggtctgtcttaaaatttCattttttcttaaggcctgag	7	6	4	1			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr14:92471796C>T	ENST00000267622.4	-	11	2897	c.2524G>A	c.(2524-2526)Gaa>Aaa	p.E842K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	842					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTTAAAATTTCATTTTTTCTT	0.333			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(2524-2526)Gaa>Aaa		thyroid hormone receptor interactor 11							67	68	68					14																	92471796		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92471796C>T	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.2524G>A	14.37:g.92471796C>T	ENSP00000267622:p.Glu842Lys						p.E842K	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	2897	-			842					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.2524G>A	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392923	0.42410	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.06142	3.34	5.92	5.92	0.95590	.	0.423150	0.27245	N	0.020254	T	0.11836	0.0288	L	0.47716	1.5	0.41722	D	0.989517	P;B	0.52316	0.952;0.122	P;B	0.51055	0.657;0.045	T	0.02444	-1.1158	10	0.33940	T	0.23	.	13.1659	0.59571	0.0:0.9267:0.0:0.0733	.	578;842	F5H1Z0;Q15643	.;TRIPB_HUMAN	K	842;578	ENSP00000267622:E842K	ENSP00000267622:E842K	E	-	1	0	TRIP11	91541549	0.819000	0.29175	0.398000	0.26321	0.814000	0.46013	1.929000	0.40114	2.809000	0.96659	0.467000	0.42956	GAA		0.333	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			5	74	0	0	0	0.217242	0	5	74					T	92471796	C	T	92471796	3	4	384	1	0	0	0	0	1	0	0	0	16552	835	29	2	3459	2	TRIP11	14	92471796	Missense_Mutation	SNP	C	TCGA-ET-A3BV-01A-11D-A19J-08	3526419	92471796	14877744	21	8007											
UBN1	29855	broad.mit.edu	37	chr16	4924499	4924499	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aactctgaattcacactgccTgcaccctcaaaagcacctgc	5	16	3	1			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr16:4924499T>G	ENST00000396658.4	+	14	2791	c.2088T>G	c.(2086-2088)ccT>ccG	p.P696P	UBN1_ENST00000590769.1_Silent_p.P696P|UBN1_ENST00000545171.1_Silent_p.P696P|UBN1_ENST00000262376.6_Silent_p.P696P	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	696					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TCACACTGCCTGCACCCTCAA	0.498																																						ENST00000396658.4																			0				NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(2086-2088)ccT>ccG		ubinuclein 1							122	132	128					16																	4924499		2197	4300	6497	SO:0001819	synonymous_variant	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4924499T>G	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.2088T>G	16.37:g.4924499T>G						UBN1_ENST00000545171.1_Silent_p.P696P|UBN1_ENST00000590769.1_Silent_p.P696P|UBN1_ENST00000262376.6_Silent_p.P696P	p.P696P	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN			14	2791	+			696					B7Z6D3|D3DUE8|Q13079|Q9P1P7	Silent	SNP	ENST00000396658.4	37	c.2088T>G	CCDS10525.1																																																																																				0.498	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		26	266	0	0	0	0.729181	0	26	266					G	4924499	T	G	4924499	2	3	384	1	0	0	0	0	0	0	0	1	16889	1567	55	5		5	UBN1	16	4924499	Silent	SNP	T	TCGA-ET-A3BV-01A-11D-A19J-08		4924499	85430254	22	8008											
SRCAP	10847	broad.mit.edu	37	chr16	30744989	30744989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctttcaactcggagtgggGgtgtgggcgtgaacctgaca	15	9	1	2			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr16:30744989G>A	ENST00000262518.4	+	29	6749	c.6364G>A	c.(6364-6366)Ggt>Agt	p.G2122S	SRCAP_ENST00000344771.4_Missense_Mutation_p.G1964S|SRCAP_ENST00000395059.2_Missense_Mutation_p.G2060S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2122	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCGGAGTGGGGGTGTGGGCGT	0.502																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(6364-6366)Ggt>Agt		Snf2-related CREBBP activator protein							106	104	105					16																	30744989		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30744989G>A	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.6364G>A	16.37:g.30744989G>A	ENSP00000262518:p.Gly2122Ser					SRCAP_ENST00000395059.2_Missense_Mutation_p.G2060S|SRCAP_ENST00000344771.4_Missense_Mutation_p.G1964S	p.G2122S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		29	6749	+			2122			Helicase C-terminal.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.6364G>A	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354773	0.61293	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.93547	-3.24;-3.24;-3.24	5.25	5.25	0.73442	Helicase, C-terminal (3);	0.000000	0.50627	D	0.000111	D	0.95595	0.8568	L	0.49256	1.55	0.48975	D	0.999738	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95621	0.8681	10	0.62326	D	0.03	-11.0033	17.7742	0.88502	0.0:0.0:1.0:0.0	.	2060;2122	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	S	2122;2060;1964	ENSP00000262518:G2122S;ENSP00000378499:G2060S;ENSP00000343042:G1964S	ENSP00000262518:G2122S	G	+	1	0	SRCAP	30652490	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.548000	0.60718	2.724000	0.93272	0.655000	0.94253	GGT		0.502	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		10	114	0	0	0	0.38729	0	10	114					A	30744989	G	A	30744989	3	1	384	1	0	0	0	0	1	0	0	0	15134	1232	43	2	6470	2	SRCAP	16	30744989	Missense_Mutation	SNP	G	TCGA-ET-A3BV-01A-11D-A19J-08	25820490	30744989	59609764	23	8009											
VMO1	284013	broad.mit.edu	37	chr17	4689488	4689488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctggcgaagaatccatcggGacacatctcaggccaggccc	12	14	1	1	rs147226483		TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr17:4689488G>A	ENST00000328739.5	-	1	239	c.160C>T	c.(160-162)Ccc>Tcc	p.P54S	VMO1_ENST00000416307.2_Missense_Mutation_p.P54S|VMO1_ENST00000354194.4_Missense_Mutation_p.P54S|VMO1_ENST00000441199.2_Missense_Mutation_p.P54S|GLTPD2_ENST00000331264.7_5'Flank	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 homolog (chicken)	54						extracellular vesicular exosome (GO:0070062)				kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						AATCCATCGGGACACATCTCA	0.622																																						ENST00000328739.5																			0				kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						c.(160-162)Ccc>Tcc		vitelline membrane outer layer 1 homolog (chicken)		G	SER/PRO,SER/PRO,SER/PRO,SER/PRO	1,4405	2.1+/-5.4	0,1,2202	74	79	77		160,160,160,160	5.6	1.0	17	dbSNP_134	77	0,8600		0,0,4300	no	missense,missense,missense,missense	VMO1	NM_001144939.1,NM_001144940.1,NM_001144941.1,NM_182566.2	74,74,74,74	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	54/115,54/103,54/71,54/203	4689488	1,13005	2203	4300	6503	SO:0001583	missense	284013				vitelline membrane formation	extracellular region		g.chr17:4689488G>A	AF521892	CCDS11055.1, CCDS45585.1, CCDS45586.1, CCDS45587.1	17p13.2	2013-03-07	2005-11-14						30387	protein-coding gene	gene with protein product						22025569	Standard	NM_182566		Approved		uc002fyx.3	Q7Z5L0		ENST00000328739.5:c.160C>T	17.37:g.4689488G>A	ENSP00000328397:p.Pro54Ser					VMO1_ENST00000441199.2_Missense_Mutation_p.P54S|VMO1_ENST00000416307.2_Missense_Mutation_p.P54S|VMO1_ENST00000354194.4_Missense_Mutation_p.P54S	p.P54S	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN			1	239	-			54					C9JQ15|E9PAU9|E9PGP4|Q3SXP1|Q8IUY1	Missense_Mutation	SNP	ENST00000328739.5	37	c.160C>T	CCDS11055.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006207	0.74932	2.27E-4	0.0	ENSG00000182853	ENST00000328739;ENST00000416307;ENST00000354194;ENST00000441199	T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71	5.57	5.57	0.84162	.	0.055158	0.64402	D	0.000001	D	0.84826	0.5558	M	0.83012	2.62	0.45415	D	0.998392	D;D;D;D	0.89917	0.993;1.0;1.0;1.0	D;D;D;D	0.97110	0.914;1.0;1.0;1.0	D	0.86162	0.1594	10	0.59425	D	0.04	-11.6177	15.0483	0.71844	0.0:0.0:1.0:0.0	.	54;54;54;54	C9JQ15;E9PAU9;E9PGP4;Q7Z5L0	.;.;.;VMO1_HUMAN	S	54	ENSP00000328397:P54S;ENSP00000390450:P54S;ENSP00000346133:P54S;ENSP00000408166:P54S	ENSP00000328397:P54S	P	-	1	0	VMO1	4636228	1.000000	0.71417	1.000000	0.80357	0.365000	0.29674	6.559000	0.73946	2.627000	0.88993	0.563000	0.77884	CCC		0.622	VMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439587.1	NM_182566		8	32	0	0	0	0.307466	0	8	32					A	4689488	G	A	4689488	3	1	384	1	0	0	0	0	1	0	0	0	17174	1174	41	2	494	2	VMO1	17	4689488	Missense_Mutation	SNP	G	TCGA-ET-A3BV-01A-11D-A19J-08		4689488	76505722	24	8010											
RAPGEFL1	51195	broad.mit.edu	37	chr17	38345558	38345558	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgggctctgtgacggagaaaCttcaatattcagaggagccc	12	9	3	3			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr17:38345558C>G	ENST00000456989.2	+	6	638	c.592C>G	c.(592-594)Ctt>Gtt	p.L198V	RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.L143V|RAPGEFL1_ENST00000540388.1_3'UTR|RAPGEFL1_ENST00000436615.3_Missense_Mutation_p.L143V|RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.L192V			Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	349					G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GACGGAGAAACTTCAATATTC	0.552																																					Esophageal Squamous(28;274 750 6870 14218 42203)	ENST00000436615.3																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						c.(427-429)Ctt>Gtt		Rap guanine nucleotide exchange factor (GEF)-like 1							155	158	157					17																	38345558		2203	4300	6503	SO:0001583	missense	51195				G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity	g.chr17:38345558C>G	AF117946	CCDS11363.1	17q21.2	2006-08-01	2004-03-26		ENSG00000108352	ENSG00000108352			17428	protein-coding gene	gene with protein product	"Link guanine nucleotide exchange factor II"		"RAP guanine-nucleotide-exchange factor (GEF)-like 1"				Standard	NM_016339		Approved	Link-GEFII	uc010cwu.1	Q9UHV5	OTTHUMG00000133325	ENST00000456989.2:c.592C>G	17.37:g.38345558C>G	ENSP00000394530:p.Leu198Val					RAPGEFL1_ENST00000540388.1_3'UTR|RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.L192V|RAPGEFL1_ENST00000456989.2_Missense_Mutation_p.L198V|RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.L143V	p.L143V	NM_016339.3	NP_057423.1	Q9UHV5	RPGFL_HUMAN			6	917	+			349						Missense_Mutation	SNP	ENST00000456989.2	37	c.427C>G		.	.	.	.	.	.	.	.	.	.	C	16.76	3.212120	0.58452	.	.	ENSG00000108352	ENST00000456989;ENST00000543876;ENST00000544503;ENST00000537255;ENST00000264644;ENST00000436615	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.27	3.07	0.35406	Ras guanine nucleotide exchange factor, domain (1);	0.184756	0.35805	N	0.002965	T	0.41858	0.1177	L	0.57536	1.79	0.54753	D	0.999985	B;B	0.16396	0.017;0.014	B;B	0.27380	0.079;0.03	T	0.35919	-0.9769	10	0.54805	T	0.06	.	12.7317	0.57201	0.0:0.9077:0.0:0.0923	.	79;349	B4DGK9;Q9UHV5	.;RPGFL_HUMAN	V	198;143;192;143;348;143	ENSP00000394530:L198V;ENSP00000440226:L143V;ENSP00000438631:L192V;ENSP00000408322:L143V	ENSP00000264644:L348V	L	+	1	0	RAPGEFL1	35599084	0.978000	0.34361	0.980000	0.43619	0.942000	0.58702	0.990000	0.29642	0.596000	0.29794	0.655000	0.94253	CTT		0.552	RAPGEFL1-005	PUTATIVE	non_canonical_conserved|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000397518.1	NM_016339		54	185	0	0	0	0.870114	0	54	185					G	38345558	C	G	38345558	3	3	384	1	0	0	0	0	1	0	0	0	13049	565	20	4	441	4	RAPGEFL1	17	38345558	Missense_Mutation	SNP	C	TCGA-ET-A3BV-01A-11D-A19J-08	33656070	38345558	42849652	25	8011											
SPAG9	9043	broad.mit.edu	37	chr17	49052246	49052246	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agtcactttatcactgttttCatcaccatatacacggatta	4	10	4	0			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr17:49052246C>G	ENST00000262013.7	-	28	3794	c.3586G>C	c.(3586-3588)Gaa>Caa	p.E1196Q	SPAG9_ENST00000510283.1_Missense_Mutation_p.E1052Q|SPAG9_ENST00000505279.1_Missense_Mutation_p.E1186Q|SPAG9_ENST00000357122.4_Missense_Mutation_p.E1182Q	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	1196					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TCACTGTTTTCATCACCATAT	0.418																																						ENST00000262013.7																			0				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(3586-3588)Gaa>Caa		sperm associated antigen 9							138	122	127					17																	49052246		2203	4300	6503	SO:0001583	missense	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49052246C>G	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"sperm surface protein", "JNK/SAPK-associated protein", "JNK interacting protein", "sperm specific protein", "c-Jun NH2-terminal kinase-associated leucine zipper protein", "Max-binding protein", "JNK-associated leucine-zipper protein", "HLC-4 protein", "lung cancer oncogene 4", "proliferation-inducing gene 6", "cancer/testis antigen 89"	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.3586G>C	17.37:g.49052246C>G	ENSP00000262013:p.Glu1196Gln					SPAG9_ENST00000505279.1_Missense_Mutation_p.E1186Q|SPAG9_ENST00000357122.4_Missense_Mutation_p.E1182Q|SPAG9_ENST00000510283.1_Missense_Mutation_p.E1052Q	p.E1196Q	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		28	3794	-			1196					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	37	c.3586G>C	CCDS45740.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583818	0.46006	.	.	ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000535445	T;T;T;T	0.24151	1.88;1.87;1.88;1.89	5.87	5.87	0.94306	.	0.096682	0.64402	D	0.000001	T	0.37348	0.1000	L	0.53249	1.67	0.58432	D	0.999999	B;P;P;P	0.52692	0.165;0.955;0.911;0.93	B;P;P;P	0.49999	0.234;0.616;0.628;0.533	T	0.00936	-1.1508	10	0.22109	T	0.4	-24.6956	20.5827	0.99408	0.0:1.0:0.0:0.0	.	1186;1196;1182;1052	O60271-2;O60271;O60271-4;E7ENU2	.;JIP4_HUMAN;.;.	Q	1196;953;943;1052;1186;1182;794	ENSP00000262013:E1196Q;ENSP00000423165:E1052Q;ENSP00000426900:E1186Q;ENSP00000349636:E1182Q	ENSP00000262013:E1196Q	E	-	1	0	SPAG9	46407245	1.000000	0.71417	1.000000	0.80357	0.213000	0.24496	7.398000	0.79919	2.941000	0.99782	0.655000	0.94253	GAA		0.418	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		5	61	0	0	0	0.184627	0	5	61					G	49052246	C	G	49052246	3	3	384	1	0	0	0	0	1	0	0	0	14985	835	29	4	391	4	SPAG9	17	49052246	Missense_Mutation	SNP	C	TCGA-ET-A3BV-01A-11D-A19J-08	10706688	49052246	32142964	26	8012											
OTOP3	347741	broad.mit.edu	37	chr17	72938090	72938090	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgcaagtcacagctggaCcttgtcttctctgtcatcga	9	13	4	0			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr17:72938090C>T	ENST00000328801.4	+	3	585	c.585C>T	c.(583-585)gaC>gaT	p.D195D		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	195						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					CACAGCTGGACCTTGTCTTCT	0.567																																						ENST00000328801.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(583-585)gaC>gaT		otopetrin 3							150	111	124					17																	72938090		2203	4300	6503	SO:0001819	synonymous_variant	347741					integral to membrane|intracellular	zinc ion binding	g.chr17:72938090C>T	BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.585C>T	17.37:g.72938090C>T							p.D195D	NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN			3	585	+	all_lung(278;0.151)|Lung NSC(278;0.185)		195						Silent	SNP	ENST00000328801.4	37	c.585C>T	CCDS11709.1																																																																																				0.567	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445308.1	NM_178233		4	41	0	0	0	0.150653	0	4	41					T	72938090	C	T	72938090	2	4	384	1	0	0	0	0	0	0	0	1	11307	506	18	2		2	OTOP3	17	72938090	Silent	SNP	C	TCGA-ET-A3BV-01A-11D-A19J-08	23885844	72938090	8257120	27	8013											
MGAT5B	146664	broad.mit.edu	37	chr17	74869018	74869018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctcggcccggcgcctggggGactcgccattcaccatccgc	12	18	2	0			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr17:74869018G>A	ENST00000569840.2	+	2	728	c.154G>A	c.(154-156)Gac>Aac	p.D52N	MGAT5B_ENST00000428789.2_Missense_Mutation_p.D63N|MGAT5B_ENST00000301618.4_Missense_Mutation_p.D52N|MGAT5B_ENST00000565675.1_Missense_Mutation_p.D52N|MGAT5B_ENST00000374998.3_3'UTR	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	52					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCGCCTGGGGGACTCGCCATT	0.602																																						ENST00000569840.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(154-156)Gac>Aac		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B							55	57	56					17																	74869018		2203	4300	6503	SO:0001583	missense	146664					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr17:74869018G>A	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	24140	protein-coding gene	gene with protein product		612441	"mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.154G>A	17.37:g.74869018G>A	ENSP00000456037:p.Asp52Asn					MGAT5B_ENST00000428789.2_Missense_Mutation_p.D63N|MGAT5B_ENST00000301618.4_Missense_Mutation_p.D52N|MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000565675.1_Missense_Mutation_p.D52N	p.D52N	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN			2	728	+			52					Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	37	c.154G>A	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	G	35	5.480201	0.96307	.	.	ENSG00000167889	ENST00000374998;ENST00000301618;ENST00000428789	T;T	0.57436	0.42;0.4	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.67144	0.2862	L	0.51422	1.61	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.70714	-0.4796	10	0.87932	D	0	-32.4805	15.2078	0.73192	0.0:0.0:1.0:0.0	.	63;52	Q3V5L5-2;Q3V5L5-5	.;.	N	52;52;63	ENSP00000301618:D52N;ENSP00000391227:D63N	ENSP00000301618:D52N	D	+	1	0	MGAT5B	72380613	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.990000	0.93510	2.193000	0.70182	0.655000	0.94253	GAC		0.602	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677		16	78	0	0	0	0.500413	0	16	78					A	74869018	G	A	74869018	3	1	384	1	0	0	0	0	1	0	0	0	9549	1174	41	2	261	2	MGAT5B	17	74869018	Missense_Mutation	SNP	G	TCGA-ET-A3BV-01A-11D-A19J-08	1930928	74869018	6326192	28	8014											
CTDP1	9150	broad.mit.edu	37	chr18	77474796	77474796	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcggcctgcccagggtgccAcgggcactgacctggacttt	14	14	0	1			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr18:77474796A>G	ENST00000299543.7	+	8	1483	c.1336A>G	c.(1336-1338)Acg>Gcg	p.T446A	CTDP1_ENST00000075430.7_Missense_Mutation_p.T446A	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	446					exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CCAGGGTGCCACGGGCACTGA	0.677																																						ENST00000299543.7																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35						c.(1336-1338)Acg>Gcg		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1							10	12	11					18																	77474796		2176	4267	6443	SO:0001583	missense	9150				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity	g.chr18:77474796A>G	AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.1336A>G	18.37:g.77474796A>G	ENSP00000299543:p.Thr446Ala					CTDP1_ENST00000075430.7_Missense_Mutation_p.T446A	p.T446A	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)	8	1483	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	446					A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Missense_Mutation	SNP	ENST00000299543.7	37	c.1336A>G	CCDS12017.1	.	.	.	.	.	.	.	.	.	.	A	0.624	-0.820016	0.02755	.	.	ENSG00000060069	ENST00000299543;ENST00000075430	T;T	0.08546	3.13;3.08	4.42	-3.98	0.04082	.	0.782790	0.12310	N	0.480294	T	0.01800	0.0057	N	0.01729	-0.75	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.39502	-0.9611	10	0.02654	T	1	-4.5525	3.4594	0.07527	0.2154:0.1608:0.5107:0.1131	.	327;446;446	Q9Y5B0-3;Q9Y5B0-4;Q9Y5B0	.;.;CTDP1_HUMAN	A	446	ENSP00000299543:T446A;ENSP00000075430:T446A	ENSP00000075430:T446A	T	+	1	0	CTDP1	75575784	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.347000	0.07750	-0.862000	0.04089	-0.445000	0.05633	ACG		0.677	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715		4	8	0	0	0	0.184627	0	4	8					G	77474796	A	G	77474796	3	3	384	1	0	0	0	0	1	0	0	0	4002	159	6	3	1366	3	CTDP1	18	77474796	Missense_Mutation	SNP	A	TCGA-ET-A3BV-01A-11D-A19J-08		77474796	602452	29	8015											
THEG	51298	broad.mit.edu	37	chr19	371211	371211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggggcacccacctcagaCatgggcatgctccagaagtt	11	14	1	2			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr19:371211C>T	ENST00000342640.4	-	6	789	c.747G>A	c.(745-747)atG>atA	p.M249I	THEG_ENST00000346878.2_Missense_Mutation_p.M225I	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	249					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CCACCTCAGACATGGGCATGC	0.642																																						ENST00000342640.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29						c.(745-747)atG>atA		theg spermatid protein							86	85	85					19																	371211		2203	4300	6503	SO:0001583	missense	51298				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	g.chr19:371211C>T	AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"cancer/testis antigen 56"	609503	"Theg homolog (mouse)"			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.747G>A	19.37:g.371211C>T	ENSP00000340088:p.Met249Ile					THEG_ENST00000346878.2_Missense_Mutation_p.M225I	p.M249I	NM_016585.4	NP_057669.1	Q9P2T0	THEG_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)	6	789	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	249					A6NMJ8	Missense_Mutation	SNP	ENST00000342640.4	37	c.747G>A	CCDS12025.1	.	.	.	.	.	.	.	.	.	.	C	9.564	1.119208	0.20877	.	.	ENSG00000105549	ENST00000342640;ENST00000346878	T;T	0.28895	1.59;1.59	4.11	2.98	0.34508	.	1.346520	0.04701	N	0.415893	T	0.37945	0.1022	L	0.57536	1.79	0.27025	N	0.964376	B;P	0.38440	0.4;0.631	B;B	0.42851	0.233;0.4	T	0.34153	-0.9840	10	0.49607	T	0.09	-17.3161	8.542	0.33399	0.2305:0.7695:0.0:0.0	.	225;249	Q9P2T0-2;Q9P2T0	.;THEG_HUMAN	I	249;225	ENSP00000340088:M249I;ENSP00000264820:M225I	ENSP00000340088:M249I	M	-	3	0	THEG	322211	0.988000	0.35896	0.985000	0.45067	0.349000	0.29174	1.502000	0.35704	2.283000	0.76528	0.655000	0.94253	ATG		0.642	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2			26	147	0	0	0	0.681144	0	26	147					T	371211	C	T	371211	3	4	384	1	0	0	0	0	1	0	0	0	15854	478	17	2	404	2	THEG	19	371211	Missense_Mutation	SNP	C	TCGA-ET-A3BV-01A-11D-A19J-08		371211	58757772	30	8016											
ZNF461	92283	broad.mit.edu	37	chr19	37129608	37129608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggaaacctgactggcttctCgccagtatgaagagtctgat	11	9	2	4			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr19:37129608C>T	ENST00000588268.1	-	6	1866	c.1639G>A	c.(1639-1641)Gag>Aag	p.E547K	ZNF461_ENST00000360357.4_Missense_Mutation_p.E524K|ZNF461_ENST00000540605.2_5'UTR	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	547					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ACTGGCTTCTCGCCAGTATGA	0.383																																						ENST00000588268.1																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29						c.(1639-1641)Gag>Aag		zinc finger protein 461							50	52	52					19																	37129608		1968	4174	6142	SO:0001583	missense	92283				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37129608C>T	BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"Zinc fingers, C2H2-type", "-"	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.1639G>A	19.37:g.37129608C>T	ENSP00000467931:p.Glu547Lys					ZNF461_ENST00000360357.4_Missense_Mutation_p.E524K|ZNF461_ENST00000540605.2_5'UTR	p.E547K	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		6	1866	-	Esophageal squamous(110;0.198)		547					A8K9W9|Q6VSF7|Q9ULZ8	Missense_Mutation	SNP	ENST00000588268.1	37	c.1639G>A	CCDS54257.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.853518	0.51270	.	.	ENSG00000197808	ENST00000396893;ENST00000360357;ENST00000540605;ENST00000396892	T	0.19806	2.12	3.17	0.906	0.19314	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18002	0.0432	L	0.50919	1.6	0.26645	N	0.972209	B;B;B	0.22746	0.043;0.007;0.074	B;B;B	0.11329	0.006;0.003;0.006	T	0.20840	-1.0263	9	0.66056	D	0.02	.	6.6439	0.22925	0.0:0.7539:0.0:0.2461	.	524;469;547	B4DRP8;Q59G30;Q8TAF7	.;.;ZN461_HUMAN	K	547;524;420;241	ENSP00000353515:E524K	ENSP00000353515:E524K	E	-	1	0	ZNF461	41821448	0.995000	0.38212	0.004000	0.12327	0.193000	0.23685	1.659000	0.37387	0.175000	0.19841	0.491000	0.48974	GAG		0.383	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453202.1	NM_153257		3	27	0	0	0	0.150653	0	3	27					T	37129608	C	T	37129608	3	4	384	1	0	0	0	0	1	0	0	0	17922	893	31	1	56	1	ZNF461	19	37129608	Missense_Mutation	SNP	C	TCGA-ET-A3BV-01A-11D-A19J-08	36758397	37129608	21999375	31	8017											
ZNF585B	92285	broad.mit.edu	37	chr19	37676134	37676134	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcacactgtttctctcaagCgtggctgctctgatgaacac	8	13	4	2	rs200913496		TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr19:37676134C>G	ENST00000532828.2	-	5	2556	c.2305G>C	c.(2305-2307)Gct>Cct	p.A769P	ZNF585B_ENST00000531805.1_Missense_Mutation_p.A714P|ZNF585B_ENST00000312908.5_Missense_Mutation_p.A357P|ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	769					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCTCTCAAGCGTGGCTGCTC	0.448																																					Melanoma(93;882 1454 18863 28917 48427)	ENST00000532828.2																			0				NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29						c.(2305-2307)Gct>Cct		zinc finger protein 585B							116	105	109					19																	37676134		2203	4300	6503	SO:0001583	missense	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37676134C>G	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"Zinc fingers, C2H2-type", "-"	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.2305G>C	19.37:g.37676134C>G	ENSP00000433773:p.Ala769Pro					CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.A714P|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_Missense_Mutation_p.A357P	p.A769P	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	2556	-			769					Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	c.2305G>C	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	T	9.943	1.217929	0.22373	.	.	ENSG00000245680	ENST00000531805;ENST00000532828;ENST00000312908	T;T;T	0.09445	2.98;3.07;3.03	2.72	0.437	0.16555	Zinc finger, C2H2 (1);	0.407217	0.18093	N	0.151935	T	0.09024	0.0223	L	0.49699	1.58	0.22081	N	0.999374	B;B	0.31100	0.003;0.308	B;B	0.21546	0.001;0.035	T	0.15665	-1.0429	10	0.87932	D	0	.	7.2666	0.26234	0.0:0.25:0.0:0.75	.	714;769	E9PQH3;Q52M93	.;Z585B_HUMAN	P	714;769;357	ENSP00000436774:A714P;ENSP00000433773:A769P;ENSP00000442139:A357P	ENSP00000442139:A357P	A	-	1	0	ZNF585B	42367974	0.964000	0.33143	0.003000	0.11579	0.019000	0.09904	0.690000	0.25451	-0.529000	0.06358	-3.289000	0.00047	GCT		0.448	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		8	91	0	0	0	0.27861	0	8	91					G	37676134	C	G	37676134	3	3	384	1	0	0	0	0	1	0	0	0	18015	768	27	4	8	4	ZNF585B	19	37676134	Missense_Mutation	SNP	C	TCGA-ET-A3BV-01A-11D-A19J-08	546526	37676134	21452849	32	8018											
OBSCN	84033	broad.mit.edu	37	chr1	228481123	228481123	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggcaacagccgtgctgcGgtgtgagctgagcaagatgg	18	8	0	3	rs376717072		TCGA-ET-A3BW-01A-11D-A19J-08	TCGA-ET-A3BW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eb56ed7-8cea-4642-975b-97ec5ed2c779	799011ae-fecf-4a42-859b-e4b3ab935ffb	g.chr1:228481123G>A	ENST00000422127.1	+	41	10981	c.10937G>A	c.(10936-10938)cGg>cAg	p.R3646Q	RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000359599.6_Missense_Mutation_p.R2493Q|OBSCN_ENST00000366709.4_Missense_Mutation_p.R765Q|OBSCN_ENST00000570156.2_Missense_Mutation_p.R4075Q|OBSCN_ENST00000366707.4_Missense_Mutation_p.R765Q|OBSCN_ENST00000284548.11_Missense_Mutation_p.R3646Q	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3646	Ig-like 37.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCGTGCTGCGGTGTGAGCTG	0.587																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(12223-12225)cGg>cAg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF		G	GLN/ARG,GLN/ARG	2,4198		0,2,2098	71	74	73		10937,10937	-2.3	0.0	1		73	0,8416		0,0,4208	no	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	43,43	0,2,6306	AA,AG,GG		0.0,0.0476,0.0159	benign,benign	3646/7969,3646/6621	228481123	2,12614	2100	4208	6308	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228481123G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.10937G>A	1.37:g.228481123G>A	ENSP00000409493:p.Arg3646Gln					OBSCN_ENST00000366707.4_Missense_Mutation_p.R765Q|OBSCN_ENST00000422127.1_Missense_Mutation_p.R3646Q|OBSCN_ENST00000284548.11_Missense_Mutation_p.R3646Q|OBSCN_ENST00000366709.4_Missense_Mutation_p.R765Q|OBSCN_ENST00000359599.6_Missense_Mutation_p.R2493Q	p.R4075Q	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			46	12298	+		Prostate(94;0.0405)	3116			Ig-like 42.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.12224G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.621266	0.28889	4.76E-4	0.0	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	4.38	-2.33	0.06724	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.986267	0.08281	N	0.969960	T	0.40932	0.1137	N	0.16656	0.425	0.09310	N	1	B;B	0.23937	0.094;0.011	B;B	0.20184	0.028;0.002	T	0.24764	-1.0151	10	0.13853	T	0.58	.	10.9855	0.47520	0.6453:0.0:0.3547:0.0	.	3646;3646	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	Q	3646;3646;765;765;2493	ENSP00000284548:R3646Q;ENSP00000409493:R3646Q;ENSP00000355668:R765Q;ENSP00000355670:R765Q;ENSP00000352613:R2493Q	ENSP00000284548:R3646Q	R	+	2	0	OBSCN	226547746	0.000000	0.05858	0.010000	0.14722	0.007000	0.05969	-0.971000	0.03806	-0.251000	0.09542	-0.423000	0.05987	CGG		0.587	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		3	40	0	0	0	1	0	3	40					A	228481123	G	A	228481123	3	1	385	1	0	0	0	0	1	0	0	0	10812	1116	39	1	11095	1	OBSCN	1	228481123	Missense_Mutation	SNP	G	TCGA-ET-A3BW-01A-11D-A19J-08		228481123	20769498	1	8019											
SOS1	6654	broad.mit.edu	37	chr2	39241096	39241096	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attctctatagctatgcgatCagcttctgttggctcaggct	9	10	4	0			TCGA-ET-A3BW-01A-11D-A19J-08	TCGA-ET-A3BW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eb56ed7-8cea-4642-975b-97ec5ed2c779	799011ae-fecf-4a42-859b-e4b3ab935ffb	g.chr2:39241096C>A	ENST00000426016.1	-	13	2061	c.1975G>T	c.(1975-1977)Gat>Tat	p.D659Y	SOS1_ENST00000402219.2_Missense_Mutation_p.D659Y|SOS1_ENST00000395038.2_Missense_Mutation_p.D659Y			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	659	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				GCTATGCGATCAGCTTCTGTT	0.348									Noonan syndrome																													ENST00000426016.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75						c.(1975-1977)Gat>Tat		son of sevenless homolog 1 (Drosophila)							71	71	71					2																	39241096		2203	4300	6503	SO:0001583	missense	6654	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39241096C>A	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11187	protein-coding gene	gene with protein product		182530	"gingival fibromatosis, hereditary, 1"	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.1975G>T	2.37:g.39241096C>A	ENSP00000387784:p.Asp659Tyr					SOS1_ENST00000395038.2_Missense_Mutation_p.D659Y|SOS1_ENST00000402219.2_Missense_Mutation_p.D659Y	p.D659Y			Q07889	SOS1_HUMAN			13	2061	-		all_hematologic(82;0.21)	659			N-terminal Ras-GEF.		A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.1975G>T	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507702	0.85282	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	T;T;T	0.52983	0.64;0.64;0.64	5.82	5.82	0.92795	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.207042	0.48286	D	0.000185	T	0.72914	0.3520	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75224	-0.3393	10	0.87932	D	0	.	20.088	0.97803	0.0:1.0:0.0:0.0	.	659	Q07889	SOS1_HUMAN	Y	659;659;391;659;659	ENSP00000387784:D659Y;ENSP00000384675:D659Y;ENSP00000378479:D659Y	ENSP00000263879:D659Y	D	-	1	0	SOS1	39094600	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.208000	0.51114	2.739000	0.93911	0.655000	0.94253	GAT		0.348	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		3	41	1	0	0.115264	1	0.121668	3	41					A	39241096	C	A	39241096	3	1	385	1	0	0	0	0	1	0	0	0	14936	826	29	4	2074	4	SOS1	2	39241096	Missense_Mutation	SNP	C	TCGA-ET-A3BW-01A-11D-A19J-08		39241096	203958277	2	8020											
TTN	7273	broad.mit.edu	37	chr2	179610555	179610555	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgtacctattggtgcAtaacagtcagaaataccttt	8	9	1	1			TCGA-ET-A3BW-01A-11D-A19J-08	TCGA-ET-A3BW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eb56ed7-8cea-4642-975b-97ec5ed2c779	799011ae-fecf-4a42-859b-e4b3ab935ffb	g.chr2:179610555A>G	ENST00000591111.1	-	46	10585				TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000360870.5_Silent_p.Y5524Y|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin						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)			CTATTGGTGCATAACAGTCAG	0.418																																						ENST00000360870.5																			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.(16570-16572)taT>taC		titin							126	125	125					2																	179610555		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179610555A>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.10361-3907T>C	2.37:g.179610555A>G						TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA	p.Y5524Y	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	16794	-			8994			Ig-like 36.		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.16572T>C																																																																																					0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		46	76	0	0	0	1	0	46	76					G	179610555	A	G	179610555	1	3	385	0	1	0	0	0	0	0	0	0	16732	224	8	3		3	TTN	2	179610555	Intron	SNP	A	TCGA-ET-A3BW-01A-11D-A19J-08	140369459	179610555	63588818	3	8021											
C6orf89	221477	broad.mit.edu	37	chr6	36884339	36884339	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcttcacccagaacctgttGtggggagtaaggtaggaaat	12	7	2	1			TCGA-ET-A3BW-01A-11D-A19J-08	TCGA-ET-A3BW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eb56ed7-8cea-4642-975b-97ec5ed2c779	799011ae-fecf-4a42-859b-e4b3ab935ffb	g.chr6:36884339G>T	ENST00000480824.2	+	7	1108	c.814G>T	c.(814-816)Gtg>Ttg	p.V272L	C6orf89_ENST00000359359.2_Missense_Mutation_p.V166L|C6orf89_ENST00000373685.1_Missense_Mutation_p.V272L|C6orf89_ENST00000355190.3_Missense_Mutation_p.V279L|C6orf89_ENST00000510325.2_Missense_Mutation_p.V166L			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	272					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						AGAACCTGTTGTGGGGAGTAA	0.423																																						ENST00000480824.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						c.(814-816)Gtg>Ttg		chromosome 6 open reading frame 89							87	83	85					6																	36884339		2203	4300	6503	SO:0001583	missense	221477					integral to membrane		g.chr6:36884339G>T	AK058086	CCDS4827.1, CCDS69100.1, CCDS75444.1	6p21.31	2013-03-14			ENSG00000198663	ENSG00000198663			21114	protein-coding gene	gene with protein product	"bombesin receptor activated protein"					21857995, 23460338	Standard	NM_152734		Approved	FLJ25357, BRAP	uc003omw.3	Q6UWU4	OTTHUMG00000014613	ENST00000480824.2:c.814G>T	6.37:g.36884339G>T	ENSP00000475947:p.Val272Leu					C6orf89_ENST00000355190.3_Missense_Mutation_p.V279L|C6orf89_ENST00000373685.1_Missense_Mutation_p.V272L|C6orf89_ENST00000510325.2_Missense_Mutation_p.V166L|C6orf89_ENST00000359359.2_Missense_Mutation_p.V166L	p.V272L			Q6UWU4	CF089_HUMAN			7	1108	+			272					B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	ENST00000480824.2	37	c.814G>T		.	.	.	.	.	.	.	.	.	.	G	10.27	1.303805	0.23736	.	.	ENSG00000198663	ENST00000359359;ENST00000510325;ENST00000355190;ENST00000373685	.	.	.	6.02	-3.14	0.05250	.	0.719273	0.14230	N	0.332815	T	0.08714	0.0216	L	0.42245	1.32	0.09310	N	0.999996	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.27739	-1.0065	9	0.17832	T	0.49	11.2459	1.3744	0.02217	0.1554:0.1974:0.2704:0.3767	.	272;279	Q6UWU4;Q6UWU4-2	CF089_HUMAN;.	L	166;166;279;272	.	ENSP00000347322:V279L	V	+	1	0	C6orf89	36992317	0.055000	0.20627	0.675000	0.29917	0.987000	0.75469	-0.603000	0.05674	-0.230000	0.09840	0.655000	0.94253	GTG		0.423	C6orf89-004	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000040387.2	NM_152734		4	64	1	0	1	1	1	4	64					T	36884339	G	T	36884339	3	4	385	1	0	0	0	0	1	0	0	0	2373	1377	48	4	857	4	C6orf89	6	36884339	Missense_Mutation	SNP	G	TCGA-ET-A3BW-01A-11D-A19J-08		36884339	134230728	4	8022											
RUNX2	860	broad.mit.edu	37	chr6	45390445	45390445	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaacagcagcagcagcaAcagcagcagcagcagcagca	11	14	0	0	rs563987595	byFrequency	TCGA-ET-A3BW-01A-11D-A19J-08	TCGA-ET-A3BW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eb56ed7-8cea-4642-975b-97ec5ed2c779	799011ae-fecf-4a42-859b-e4b3ab935ffb	g.chr6:45390445A>G	ENST00000371438.1	+	2	532	c.174A>G	c.(172-174)caA>caG	p.Q58Q	RUNX2_ENST00000541979.1_Silent_p.Q126Q|RUNX2_ENST00000371436.6_Silent_p.Q58Q|RUNX2_ENST00000359524.5_Silent_p.Q44Q|RUNX2_ENST00000371432.3_Silent_p.Q44Q|RUNX2_ENST00000465038.2_Silent_p.Q58Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000576263.1_Silent_p.Q58Q|RUNX2_ENST00000352853.5_Silent_p.Q126Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	58	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													A|||	6	0.00119808	0.0015	0	5008	,	,		8050	0.002		0	False		,,,				2504	0.002					ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(172-174)caA>caG		runt-related transcription factor 2							16	24	21					6																	45390445		1589	3298	4887	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390445A>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.174A>G	6.37:g.45390445A>G						RUNX2_ENST00000576263.1_Silent_p.Q58Q|RUNX2_ENST00000541979.1_Silent_p.Q126Q|RUNX2_ENST00000371432.3_Silent_p.Q44Q|RUNX2_ENST00000359524.5_Silent_p.Q44Q|RUNX2_ENST00000352853.5_Silent_p.Q126Q|RUNX2_ENST00000371436.6_Silent_p.Q58Q|RUNX2_ENST00000465038.2_Silent_p.Q58Q	p.Q58Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	532	+			58			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.174A>G	CCDS43467.2																																																																																				0.731	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		4	44	0	0	0	1	0	4	44					G	45390445	A	G	45390445	2	3	385	1	0	0	0	0	0	0	0	1	13748	40	2	3		3	RUNX2	6	45390445	Silent	SNP	A	TCGA-ET-A3BW-01A-11D-A19J-08	8506106	45390445	125724622	5	8023											
ATXN7L1	222255	broad.mit.edu	37	chr7	105401890	105401890	+	Intron	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggagatgccttcatttctCctgttgtcttgctttctccc	7	13	4	1	rs150437313	byFrequency	TCGA-ET-A3BW-01A-11D-A19J-08	TCGA-ET-A3BW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eb56ed7-8cea-4642-975b-97ec5ed2c779	799011ae-fecf-4a42-859b-e4b3ab935ffb	g.chr7:105401890C>T	ENST00000419735.3	-	3	401				ATXN7L1_ENST00000478915.1_Silent_p.R74R|ATXN7L1_ENST00000318724.4_Silent_p.R125R	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1											endometrium(1)|large_intestine(4)|lung(5)	10						CTTCATTTCTCCTGTTGTCTT	0.423													C|||	18	0.00359425	0.0136	0	5008	,	,		19638	0		0	False		,,,				2504	0					ENST00000318724.4																			0				endometrium(1)|large_intestine(4)|lung(5)	10						c.(373-375)agG>agA		ataxin 7-like 1		C	,	31,4375	36.0+/-67.5	0,31,2172	304	246	266		,375	5.0	1.0	7	dbSNP_134	266	0,8600		0,0,4300	no	intron,coding-synonymous	ATXN7L1	NM_020725.1,NM_152749.3	,	0,31,6472	TT,TC,CC		0.0,0.7036,0.2384	,	,125/147	105401890	31,12975	2203	4300	6503	SO:0001627	intron_variant	222255							g.chr7:105401890C>T	AB033044	CCDS34727.1, CCDS47682.1, CCDS47683.1	7q22.1	2007-11-13			ENSG00000146776	ENSG00000146776			22210	protein-coding gene	gene with protein product			"ataxin 7-like 4"	ATXN7L4		15115762	Standard	NM_152749		Approved	KIAA1218, MGC33190	uc003vde.2	Q9ULK2	OTTHUMG00000157521	ENST00000419735.3:c.355+27159G>A	7.37:g.105401890C>T						ATXN7L1_ENST00000478915.1_Silent_p.R74R|ATXN7L1_ENST00000419735.3_Intron	p.R125R	NM_152749.3	NP_689962.1	Q9ULK2	AT7L1_HUMAN			4	398	-			125					A4D0Q2|B4DTS1|Q8N2T0	Silent	SNP	ENST00000419735.3	37	c.375G>A	CCDS47682.1																																																																																				0.423	ATXN7L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349037.2			5	124	0	0	0	1	0	5	124					T	105401890	C	T	105401890	1	4	385	0	1	0	0	0	0	0	0	0	1216	854	30	2		2	ATXN7L1	7	105401890	Intron	SNP	C	TCGA-ET-A3BW-01A-11D-A19J-08		105401890	53736773	6	8024											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A3BW-01A-11D-A19J-08	TCGA-ET-A3BW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eb56ed7-8cea-4642-975b-97ec5ed2c779	799011ae-fecf-4a42-859b-e4b3ab935ffb	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		41	39	0	0	0	1	0	41	39					T	140453136	A	T	140453136	3	4	385	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A3BW-01A-11D-A19J-08	35051246	140453136	18685527	7	8025											
FGFR1	2260	broad.mit.edu	37	chr8	38287336	38287336	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcgggtgcggttgctttcCgccagctgcaccccgtcccg	13	16	0	0			TCGA-ET-A3BW-01A-11D-A19J-08	TCGA-ET-A3BW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eb56ed7-8cea-4642-975b-97ec5ed2c779	799011ae-fecf-4a42-859b-e4b3ab935ffb	g.chr8:38287336C>T	ENST00000447712.2	-	3	1163	c.222G>A	c.(220-222)gcG>gcA	p.A74A	FGFR1_ENST00000397113.2_Silent_p.A74A|FGFR1_ENST00000397103.1_Intron|FGFR1_ENST00000532791.1_Silent_p.A74A|FGFR1_ENST00000356207.5_Intron|FGFR1_ENST00000397108.4_Silent_p.A74A|FGFR1_ENST00000425967.3_Silent_p.A107A|FGFR1_ENST00000341462.5_Silent_p.A74A|FGFR1_ENST00000326324.6_Intron|FGFR1_ENST00000397091.5_Silent_p.A74A|FGFR1_ENST00000335922.5_Silent_p.A66A	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	74	Ig-like C2-type 1.				angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GGTTGCTTTCCGCCAGCTGCA	0.667		1	T	"BCR, FOP, ZNF198, CEP1"	"MPD, NHL"		"Pfeiffer syndrome, Kallman syndrome"																														Melanoma(146;1153 1840 21453 21841 43625)	ENST00000341462.5		1		Dom	yes		8	8p11.2-p11.1	2260	T	fibroblast growth factor receptor 1	yes	"Pfeiffer syndrome, Kallman syndrome"	L	"BCR, FOP, ZNF198, CEP1"		"MPD, NHL"	FGFR1/ZNF703(2)	0				breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50						c.(220-222)gcG>gcA		fibroblast growth factor receptor 1	Palifermin(DB00039)						51	44	46					8																	38287336		2203	4300	6503	SO:0001819	synonymous_variant	2260				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	g.chr8:38287336C>T	M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3688	protein-coding gene	gene with protein product	"Pfeiffer syndrome"	136350	"fms-related tyrosine kinase 2"	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.222G>A	8.37:g.38287336C>T						FGFR1_ENST00000397103.1_Intron|FGFR1_ENST00000326324.6_Intron|FGFR1_ENST00000532791.1_Silent_p.A74A|FGFR1_ENST00000397108.4_Silent_p.A74A|FGFR1_ENST00000397113.2_Silent_p.A74A|FGFR1_ENST00000356207.5_Intron|FGFR1_ENST00000335922.5_Silent_p.A66A|FGFR1_ENST00000425967.3_Silent_p.A107A|FGFR1_ENST00000447712.2_Silent_p.A74A|FGFR1_ENST00000397091.5_Silent_p.A74A	p.A74A			P11362	FGFR1_HUMAN	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		3	1163	-	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	74			Ig-like C2-type 1.		A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Silent	SNP	ENST00000447712.2	37	c.222G>A	CCDS6107.2																																																																																				0.667	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				5	14	0	0	0	1	0	5	14					T	38287336	C	T	38287336	2	4	385	1	0	0	0	0	0	0	0	1	5863	639	23	1		1	FGFR1	8	38287336	Silent	SNP	C	TCGA-ET-A3BW-01A-11D-A19J-08		38287336	108076686	8	8026											
HSPA5	3309	broad.mit.edu	37	chr9	127999360	127999360	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acttcaatctgtgggaccccAcgaggagcaggaggaattcc	12	11	2	0			TCGA-ET-A3BW-01A-11D-A19J-08	TCGA-ET-A3BW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eb56ed7-8cea-4642-975b-97ec5ed2c779	799011ae-fecf-4a42-859b-e4b3ab935ffb	g.chr9:127999360A>C	ENST00000324460.6	-	8	1679	c.1476T>G	c.(1474-1476)cgT>cgG	p.R492R		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	492					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	GTGGGACCCCACGAGGAGCAG	0.423										Prostate(1;0.17)																												ENST00000324460.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23						c.(1474-1476)cgT>cgG		heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	Antihemophilic Factor(DB00025)						70	71	71					9																	127999360		2203	4296	6499	SO:0001819	synonymous_variant	3309				anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding	g.chr9:127999360A>C		CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"Heat shock proteins / HSP70"	5238	protein-coding gene	gene with protein product		138120	"heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.1476T>G	9.37:g.127999360A>C		Prostate(1;0.17)					p.R492R	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN			8	1679	-			492					B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Silent	SNP	ENST00000324460.6	37	c.1476T>G	CCDS6863.1																																																																																				0.423	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1			15	96	0	0	0	1	0	15	96					C	127999360	A	C	127999360	2	2	385	1	0	0	0	0	0	0	0	1	7414	146	6	5		5	HSPA5	9	127999360	Silent	SNP	A	TCGA-ET-A3BW-01A-11D-A19J-08		127999360	13214071	9	8027											
CWF19L2	143884	broad.mit.edu	37	chr11	107207441	107207442	+	Splice_Site	INS	-	-	A													caatgattttctgaacatctINSaaaaaaaaaaaagaactagg					rs540909186		TCGA-ET-A3BW-01A-11D-A19J-08	TCGA-ET-A3BW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eb56ed7-8cea-4642-975b-97ec5ed2c779	799011ae-fecf-4a42-859b-e4b3ab935ffb	g.chr11:107207441_107207442insA	ENST00000282251.5	-	15	2230		c.e15-2			NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)								catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TCTGAACATCTAAAAAAAAAAA	0.257																																						ENST00000282251.5																			0				endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40						c.e15-2		CWF19-like 2, cell cycle control (S. pombe)																																				SO:0001630	splice_region_variant	143884						catalytic activity	g.chr11:107207441_107207442insA	AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.2203-2->T	11.37:g.107207452_107207452dupA								NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)	15	2230	-		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)						A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Splice_Site	INS	ENST00000282251.5	37		CCDS8336.2																																																																																				0.257	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434	Intron	3	5						3	5	---	---	---	---	A	107207442	-	A	107207441	8	5	385	1	0	1	1	0	0	0	1	0	4072	1536	53	0	499	0	CWF19L2	11	107207441	Splice_Site	INS	-	TCGA-ET-A3BW-01A-11D-A19J-08		107207441	27799075	10	8028											
SPAG9	9043	broad.mit.edu	37	chr17	49083476	49083476	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcctccaattctctgttcTtttcctctagtttcagtttg	4	12	4	0			TCGA-ET-A3BW-01A-11D-A19J-08	TCGA-ET-A3BW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eb56ed7-8cea-4642-975b-97ec5ed2c779	799011ae-fecf-4a42-859b-e4b3ab935ffb	g.chr17:49083476T>C	ENST00000262013.7	-	11	1602	c.1394A>G	c.(1393-1395)aAg>aGg	p.K465R	SPAG9_ENST00000357122.4_Missense_Mutation_p.K451R|SPAG9_ENST00000510283.1_Missense_Mutation_p.K308R|SPAG9_ENST00000505279.1_Missense_Mutation_p.K451R	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	465					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TTCTCTGTTCTTTTCCTCTAG	0.408																																						ENST00000262013.7																			0				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(1393-1395)aAg>aGg		sperm associated antigen 9							254	221	232					17																	49083476		2203	4300	6503	SO:0001583	missense	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49083476T>C	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"sperm surface protein", "JNK/SAPK-associated protein", "JNK interacting protein", "sperm specific protein", "c-Jun NH2-terminal kinase-associated leucine zipper protein", "Max-binding protein", "JNK-associated leucine-zipper protein", "HLC-4 protein", "lung cancer oncogene 4", "proliferation-inducing gene 6", "cancer/testis antigen 89"	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.1394A>G	17.37:g.49083476T>C	ENSP00000262013:p.Lys465Arg					SPAG9_ENST00000510283.1_Missense_Mutation_p.K308R|SPAG9_ENST00000505279.1_Missense_Mutation_p.K451R|SPAG9_ENST00000357122.4_Missense_Mutation_p.K451R	p.K465R	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		11	1602	-			465					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	37	c.1394A>G	CCDS45740.1	.	.	.	.	.	.	.	.	.	.	T	7.375	0.627609	0.14257	.	.	ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000535445;ENST00000511795	D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4	6.03	6.03	0.97812	.	0.043973	0.85682	D	0.000000	T	0.73024	0.3534	N	0.02296	-0.605	0.48135	D	0.999596	B;B;B;B;B;B	0.31413	0.322;0.04;0.007;0.004;0.146;0.014	B;B;B;B;B;B	0.31390	0.129;0.075;0.028;0.012;0.084;0.044	T	0.75107	-0.3434	10	0.02654	T	1	-20.201	16.5582	0.84512	0.0:0.0:0.0:1.0	.	451;465;451;465;451;308	O60271-5;O60271-3;O60271-2;O60271;O60271-4;E7ENU2	.;.;.;JIP4_HUMAN;.;.	R	465;221;207;308;451;451;63;144	ENSP00000262013:K465R;ENSP00000423165:K308R;ENSP00000426900:K451R;ENSP00000349636:K451R	ENSP00000262013:K465R	K	-	2	0	SPAG9	46438475	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	3.881000	0.56152	2.308000	0.77769	0.533000	0.62120	AAG		0.408	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		5	126	0	0	0	1	0	5	126					C	49083476	T	C	49083476	3	2	385	1	0	0	0	0	1	0	0	0	14985	1609	56	3	2651	3	SPAG9	17	49083476	Missense_Mutation	SNP	T	TCGA-ET-A3BW-01A-11D-A19J-08		49083476	32111734	11	8029											
PPM1D	8493	broad.mit.edu	37	chr17	58734159	58734159	+	Frame_Shift_Del	DEL	C	C	-													ttcctataatagtcaagaaaCctgtgtgatgactccttccc							TCGA-ET-A3BW-01A-11D-A19J-08	TCGA-ET-A3BW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eb56ed7-8cea-4642-975b-97ec5ed2c779	799011ae-fecf-4a42-859b-e4b3ab935ffb	g.chr17:58734159delC	ENST00000305921.3	+	5	1449	c.1217delC	c.(1216-1218)accfs	p.T406fs		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	406					G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			AGTCAAGAAACCTGTGTGATG	0.398																																						ENST00000305921.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15						c.(1216-1218)acfs		protein phosphatase, Mg2+/Mn2+ dependent, 1D							128	117	121					17																	58734159		2203	4300	6503	SO:0001589	frameshift_variant	8493				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr17:58734159delC	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9277	protein-coding gene	gene with protein product	"wild-type p53-induced phosphatase 1", "protein phosphatase 2C, delta isoform"	605100	"protein phosphatase 1D magnesium-dependent, delta isoform"			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.1217delC	17.37:g.58734159delC	ENSP00000306682:p.Thr406fs						p.T406fs	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		5	1449	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		406					Q53XP4|Q6P991|Q8IVR6	Frame_Shift_Del	DEL	ENST00000305921.3	37	c.1217delC	CCDS11625.1																																																																																				0.398	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620		34	56						34	56	---	---	---	---	-	58734159	C	-	58734159	7	5	385	1	0	1	0	1	0	0	0	0	12337	507	18	0	1235	0	PPM1D	17	58734159	Frame_Shift_Del	DEL	C	TCGA-ET-A3BW-01A-11D-A19J-08	9650683	58734159	22461051	12	8030											
TPM4	7171	broad.mit.edu	37	chr19	16199868	16199868	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcagaaaatgtggtgacCtggaagaagaactcaagaat	12	5	1	5			TCGA-ET-A3BW-01A-11D-A19J-08	TCGA-ET-A3BW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eb56ed7-8cea-4642-975b-97ec5ed2c779	799011ae-fecf-4a42-859b-e4b3ab935ffb	g.chr19:16199868C>T	ENST00000300933.4	+	5	729	c.469C>T	c.(469-471)Ctg>Ttg	p.L157L	TPM4_ENST00000538887.1_Silent_p.L193L|TPM4_ENST00000344824.6_Silent_p.L193L	NM_003290.2	NP_003281.1	P67936	TPM4_HUMAN	tropomyosin 4	157					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|osteoblast differentiation (GO:0001649)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|membrane (GO:0016020)|muscle thin filament tropomyosin (GO:0005862)|podosome (GO:0002102)|stress fiber (GO:0001725)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)		TPM4/ALK(12)	breast(1)|large_intestine(3)	4						ATGTGGTGACCTGGAAGAAGA	0.438			T	ALK	ALCL						OREG0025329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000300933.4				Dom	yes		19	19p13.1	7171	T	tropomyosin 4			L	ALK		ALCL	TPM4/ALK(12)	0				breast(1)|large_intestine(3)	4						c.(469-471)Ctg>Ttg		tropomyosin 4							129	115	120					19																	16199868		2203	4300	6503	SO:0001819	synonymous_variant	7171				cellular component movement|muscle filament sliding|response to oxidative stress	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding|calcium ion binding|structural constituent of muscle	g.chr19:16199868C>T		CCDS12338.1, CCDS46007.1	19p13.1	2013-03-11			ENSG00000167460	ENSG00000167460		"Tropomyosins"	12013	protein-coding gene	gene with protein product		600317				8641132	Standard	NM_003290		Approved		uc002ndi.2	P67936	OTTHUMG00000182134	ENST00000300933.4:c.469C>T	19.37:g.16199868C>T			OREG0025329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	708	TPM4_ENST00000344824.6_Silent_p.L193L|TPM4_ENST00000538887.1_Silent_p.L193L	p.L157L	NM_003290.2	NP_003281.1	P67936	TPM4_HUMAN			5	729	+			157					P07226|Q15659|Q5U0D9|Q9BU85|Q9H8Q3|Q9UCS1|Q9UCS2|Q9UCS3|Q9UCS4	Silent	SNP	ENST00000300933.4	37	c.469C>T	CCDS12338.1																																																																																				0.438	TPM4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459673.2	NM_003290		11	36	0	0	0	1	0	11	36					T	16199868	C	T	16199868	2	4	385	1	0	0	0	0	0	0	0	1	16405	680	24	2		2	TPM4	19	16199868	Silent	SNP	C	TCGA-ET-A3BW-01A-11D-A19J-08		16199868	42929115	13	8031											
VPS13D	55187	broad.mit.edu	37	chr1	12382678	12382678	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaaatccatcccagagcaagCtaatgctgcagtgccagact	8	12	0	2			TCGA-ET-A3BX-01A-11D-A19J-08	TCGA-ET-A3BX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81ac96ae-fa67-46a4-a969-cd269e0a45ea	b5eda881-51a0-4255-bd6a-bbb070d97793	g.chr1:12382678C>G	ENST00000358136.3	+	34	7920	c.7790C>G	c.(7789-7791)gCt>gGt	p.A2597G	VPS13D_ENST00000356315.4_Missense_Mutation_p.A2597G	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.A2597D(1)		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)		CCAGAGCAAGCTAATGCTGCA	0.473																																						ENST00000358136.3																			1	Substitution - Missense(1)	p.A2597D(1)	haematopoietic_and_lymphoid_tissue(1)	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.(7789-7791)gCt>gGt		vacuolar protein sorting 13 homolog D (S. cerevisiae)							135	125	129					1																	12382678		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12382678C>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.7790C>G	1.37:g.12382678C>G	ENSP00000350854:p.Ala2597Gly					VPS13D_ENST00000356315.4_Missense_Mutation_p.A2597G	p.A2597G	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)	34	7920	+	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)	2597						Missense_Mutation	SNP	ENST00000358136.3	37	c.7790C>G	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.61|13.61	2.288692|2.288692	0.40494|0.40494	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|.	0.55930|.	0.49;0.49|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.352908|.	0.31370|.	N|.	0.007780|.	T|T	0.71384|0.71384	0.3333|0.3333	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	P;B;B|.	0.42871|.	0.792;0.002;0.001|.	B;B;B|.	0.37731|.	0.257;0.004;0.002|.	T|T	0.65849|0.65849	-0.6068|-0.6068	10|5	0.25751|.	T|.	0.34|.	.|.	20.1802|20.1802	0.98196|0.98196	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	504;2597;2597|.	B1AJZ2;Q5THJ4-2;Q5THJ4|.	.;.;VP13D_HUMAN|.	G|V	2597|1420	ENSP00000348666:A2597G;ENSP00000350854:A2597G|.	ENSP00000348666:A2597G|.	A|L	+|+	2|1	0|2	VPS13D|VPS13D	12305265|12305265	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.243000|0.243000	0.25628|0.25628	4.726000|4.726000	0.61986|0.61986	2.777000|2.777000	0.95525|0.95525	0.655000|0.655000	0.94253|0.94253	GCT|CTA		0.473	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		29	49	0	0	0	1	0	29	49					G	12382678	C	G	12382678	3	3	386	1	0	0	0	0	1	0	0	0	17189	797	28	4	7920	4	VPS13D	1	12382678	Missense_Mutation	SNP	C	TCGA-ET-A3BX-01A-11D-A19J-08		12382678	236867943	1	8032											
FLG2	388698	broad.mit.edu	37	chr1	152329145	152329145	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaagaggactgacttgagcCtgttctccattgtcctccac	9	13	1	3			TCGA-ET-A3BX-01A-11D-A19J-08	TCGA-ET-A3BX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81ac96ae-fa67-46a4-a969-cd269e0a45ea	b5eda881-51a0-4255-bd6a-bbb070d97793	g.chr1:152329145C>T	ENST00000388718.5	-	3	1189	c.1117G>A	c.(1117-1119)Ggc>Agc	p.G373S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	373	Ser-rich.				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)			TGACTTGAGCCTGTTCTCCAT	0.468																																						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.(1117-1119)Ggc>Agc		filaggrin family member 2							140	128	132					1																	152329145		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152329145C>T	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.1117G>A	1.37:g.152329145C>T	ENSP00000373370:p.Gly373Ser					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.G373S	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1189	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		373			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.1117G>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	8.773	0.926345	0.18056	.	.	ENSG00000143520	ENST00000388718	T	0.17213	2.29	5.24	-2.29	0.06805	.	.	.	.	.	T	0.07234	0.0183	M	0.61703	1.905	0.09310	N	1	D	0.53312	0.959	B	0.43623	0.425	T	0.30650	-0.9971	9	0.27785	T	0.31	-1.3361	10.0467	0.42190	0.0:0.4283:0.0:0.5717	.	373	Q5D862	FILA2_HUMAN	S	373	ENSP00000373370:G373S	ENSP00000373370:G373S	G	-	1	0	FLG2	150595769	0.972000	0.33761	0.000000	0.03702	0.132000	0.20833	0.004000	0.13106	-0.324000	0.08589	0.655000	0.94253	GGC		0.468	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		34	52	0	0	0	1	0	34	52					T	152329145	C	T	152329145	3	4	386	1	0	0	0	0	1	0	0	0	5923	681	24	2	6062	2	FLG2	1	152329145	Missense_Mutation	SNP	C	TCGA-ET-A3BX-01A-11D-A19J-08	139946467	152329145	96921476	2	8033											
MOBKL1B	55233	broad.mit.edu	37	chr2	74392437	74392437	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtgcagaacatttgattGgctttttaatattagtacca	8	5	0	2			TCGA-ET-A3BX-01A-11D-A19J-08	TCGA-ET-A3BX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81ac96ae-fa67-46a4-a969-cd269e0a45ea	b5eda881-51a0-4255-bd6a-bbb070d97793	g.chr2:74392437G>A	ENST00000396049.4	-	4	510	c.317C>T	c.(316-318)cCa>cTa	p.P106L	MOB1A_ENST00000409969.2_Missense_Mutation_p.P106L|MOB1A_ENST00000497054.1_5'UTR	NM_018221.3	NP_060691.2	Q9H8S9	MOB1A_HUMAN	MOB kinase activator 1A	106					hippo signaling (GO:0035329)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)										ACATTTGATTGGCTTTTTAAT	0.303																																						ENST00000396049.3																			0											c.(316-318)cCa>cTa		MOB kinase activator 1A							74	70	71					2																	74392437		1824	4077	5901	SO:0001583	missense	55233				hippo signaling cascade		metal ion binding|protein binding	g.chr2:74392437G>A		CCDS46340.1	2p13.1	2011-09-28	2011-09-28	2011-09-27	ENSG00000114978	ENSG00000114978		"MOB kinase activators"	16015	protein-coding gene	gene with protein product		609281	"chromosome 2 open reading frame 6", "MOB1, Mps One Binder kinase activator-like 1B (yeast)", "MOB1 Mps One Binder homolog A (yeast)"	C2orf6, MOBK1B, MOBKL1B		11319234, 20624913	Standard	NM_018221		Approved	FLJ10788, MOB1, FLJ11595, Mob4B, Mats1	uc002skh.4	Q9H8S9	OTTHUMG00000152833	ENST00000396049.4:c.317C>T	2.37:g.74392437G>A	ENSP00000379364:p.Pro106Leu					MOB1A_ENST00000409969.2_Missense_Mutation_p.P106L|MOB1A_ENST00000497054.1_5'UTR	p.P106L	NM_018221.3	NP_060691.2	Q9H8S9	MOL1B_HUMAN			4	510	-			106					Q53S34|Q9H3T5|Q9HAI0|Q9NVE2	Missense_Mutation	SNP	ENST00000396049.4	37	c.317C>T	CCDS46340.1	.	.	.	.	.	.	.	.	.	.	G	33	5.202248	0.94997	.	.	ENSG00000114978	ENST00000396049;ENST00000409969	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.84795	0.5551	M	0.92077	3.27	0.80722	D	1	D;D	0.63880	0.993;0.972	D;P	0.64042	0.921;0.858	D	0.88319	0.2961	9	0.87932	D	0	.	16.2862	0.82722	0.0:0.0:1.0:0.0	.	106;106	Q9H8S9-2;Q9H8S9	.;MOB1A_HUMAN	L	106	.	ENSP00000379364:P106L	P	-	2	0	MOBKL1B	74245945	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.482000	0.97935	2.697000	0.92050	0.563000	0.77884	CCA		0.303	MOB1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328200.2	NM_018221		5	9	0	0	0	1	0	5	9					A	74392437	G	A	74392437	3	1	386	1	0	0	0	0	1	0	0	0	9683	1348	47	2	345	2	MOBKL1B	2	74392437	Missense_Mutation	SNP	G	TCGA-ET-A3BX-01A-11D-A19J-08		74392437	168806936	3	8034											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A3BX-01A-11D-A19J-08	TCGA-ET-A3BX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81ac96ae-fa67-46a4-a969-cd269e0a45ea	b5eda881-51a0-4255-bd6a-bbb070d97793	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		26	37	0	0	0	1	0	26	37					T	140453136	A	T	140453136	3	4	386	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A3BX-01A-11D-A19J-08		140453136	18685527	4	8035											
CTAGE5	4253	broad.mit.edu	37	chr14	39763206	39763206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatactgtgtttctagatGgcggatatttcaaaaaggat	10	5	2	2			TCGA-ET-A3BX-01A-11D-A19J-08	TCGA-ET-A3BX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81ac96ae-fa67-46a4-a969-cd269e0a45ea	b5eda881-51a0-4255-bd6a-bbb070d97793	g.chr14:39763206G>A	ENST00000280083.3	+	7	812	c.498G>A	c.(496-498)atG>atA	p.M166I	CTAGE5_ENST00000341502.5_Missense_Mutation_p.M166I|CTAGE5_ENST00000348007.3_Missense_Mutation_p.M166I|CTAGE5_ENST00000396165.4_Missense_Mutation_p.M137I|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.M137I|CTAGE5_ENST00000557038.1_Missense_Mutation_p.M86I|CTAGE5_ENST00000396158.2_Missense_Mutation_p.M171I|CTAGE5_ENST00000556148.1_Missense_Mutation_p.M91I|CTAGE5_ENST00000553352.1_Missense_Mutation_p.M137I|CTAGE5_ENST00000341749.3_Missense_Mutation_p.M154I|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.M701I			O15320	CTGE5_HUMAN	CTAGE family, member 5	166					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		GTTTCTAGATGGCGGATATTT	0.343																																						ENST00000553728.1																			0											c.(2101-2103)atG>atA									113	121	118					14																	39763206		2203	4297	6500	SO:0001583	missense	0							g.chr14:39763206G>A	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"meningioma expressed antigen 6 (coiled-coil proline-rich)"	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.498G>A	14.37:g.39763206G>A	ENSP00000280083:p.Met166Ile					CTAGE5_ENST00000280083.3_Missense_Mutation_p.M166I|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.M137I|CTAGE5_ENST00000348007.3_Missense_Mutation_p.M166I|CTAGE5_ENST00000557038.1_Missense_Mutation_p.M86I|CTAGE5_ENST00000396158.2_Missense_Mutation_p.M171I|CTAGE5_ENST00000341749.3_Missense_Mutation_p.M154I|CTAGE5_ENST00000396165.4_Missense_Mutation_p.M137I|CTAGE5_ENST00000556148.1_Missense_Mutation_p.M91I|CTAGE5_ENST00000553352.1_Missense_Mutation_p.M137I|CTAGE5_ENST00000341502.5_Missense_Mutation_p.M166I	p.M701I							11	2316	+								B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	ENST00000280083.3	37	c.2103G>A	CCDS9674.1	.	.	.	.	.	.	.	.	.	.	G	7.300	0.612936	0.14066	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000555716;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69	5.15	2.22	0.28083	.	0.175198	0.27581	N	0.018733	T	0.24509	0.0594	L	0.53249	1.67	0.24630	N	0.993626	P;P;B;P;B;P	0.41345	0.746;0.58;0.346;0.58;0.346;0.58	B;B;B;B;B;B	0.43658	0.426;0.26;0.166;0.26;0.166;0.26	T	0.06534	-1.0821	9	.	.	.	.	5.967	0.19330	0.175:0.1591:0.6659:0.0	.	128;171;166;166;137;154	F8W9E1;O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;.;CTGE5_HUMAN;.;.	I	701;128;154;86;128;137;166;171;166;91;166;137	ENSP00000452252:M701I;ENSP00000452395:M128I;ENSP00000343897:M154I;ENSP00000450869:M86I;ENSP00000379468:M137I;ENSP00000339286:M166I;ENSP00000379462:M171I;ENSP00000280083:M166I;ENSP00000452562:M91I;ENSP00000343912:M166I;ENSP00000450449:M137I	.	M	+	3	0	CTAGE5;RP11-407N17.3	38832957	0.678000	0.27586	0.628000	0.29241	0.327000	0.28475	0.655000	0.24933	0.639000	0.30564	0.455000	0.32223	ATG		0.343	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		44	59	0	0	0	1	0	44	59					A	39763206	G	A	39763206	3	1	386	1	0	0	0	0	1	0	0	0	3994	1348	47	2	555	2	CTAGE5	14	39763206	Missense_Mutation	SNP	G	TCGA-ET-A3BX-01A-11D-A19J-08		39763206	67586334	5	8036											
CACNA1G	8913	broad.mit.edu	37	chr17	48653257	48653257	+	Frame_Shift_Del	DEL	C	C	-													caccacctggtgcaccaccaCcaccaccatcaccaccacta							TCGA-ET-A3BX-01A-11D-A19J-08	TCGA-ET-A3BX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81ac96ae-fa67-46a4-a969-cd269e0a45ea	b5eda881-51a0-4255-bd6a-bbb070d97793	g.chr17:48653257delC	ENST00000359106.5	+	8	1494	c.1494delC	c.(1492-1494)cacfs	p.H504fs	CACNA1G_ENST00000503485.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000502264.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000429973.2_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000507896.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000513964.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000507609.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000513689.2_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000507336.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000514181.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000505165.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000510115.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000515765.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000358244.5_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000515165.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000416767.4_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000510366.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000515411.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000514717.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000354983.4_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000360761.4_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000352832.5_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000514079.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000507510.2_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000512389.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000442258.2_Frame_Shift_Del_p.H504fs	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	504	Poly-His.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGcaccaccaccaccaccatc	0.706																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(1492-1494)cafs		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						10	17	15					17																	48653257		2059	4192	6251	SO:0001589	frameshift_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48653257delC	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.1494delC	17.37:g.48653257delC	ENSP00000352011:p.His504fs					CACNA1G_ENST00000514717.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000507510.2_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000507609.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000507896.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000512389.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000514079.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000514181.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000416767.4_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000510115.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000503485.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000507336.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000505165.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000442258.2_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000429973.2_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000510366.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000360761.4_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000354983.4_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000359106.5_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000513964.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000513689.2_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000502264.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000358244.5_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000515765.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000515411.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000515165.1_Frame_Shift_Del_p.H504fs	p.H504fs	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		8	1866	+	Breast(11;6.7e-17)		504			Poly-His.		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Frame_Shift_Del	DEL	ENST00000359106.5	37	c.1494delC	CCDS45730.1																																																																																				0.706	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		2	4						2	4	---	---	---	---	-	48653257	C	-	48653257	7	5	386	1	0	1	0	1	0	0	0	0	2544	506	18	0	1524	0	CACNA1G	17	48653257	Frame_Shift_Del	DEL	C	TCGA-ET-A3BX-01A-11D-A19J-08		48653257	32541953	6	8037											
TRAPPC5	126003	broad.mit.edu	37	chr19	7747624	7747624	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cttccctgccaaggtcacggCgcactggcacaagggcacca	11	16	1	0			TCGA-ET-A3BX-01A-11D-A19J-08	TCGA-ET-A3BX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81ac96ae-fa67-46a4-a969-cd269e0a45ea	b5eda881-51a0-4255-bd6a-bbb070d97793	g.chr19:7747624C>G	ENST00000317378.5	+	2	672	c.485C>G	c.(484-486)gCg>gGg	p.A162G	TRAPPC5_ENST00000595985.1_Missense_Mutation_p.A95G|TRAPPC5_ENST00000596148.1_Missense_Mutation_p.A162G|TRAPPC5_ENST00000426877.2_Missense_Mutation_p.A162G|CTD-3214H19.16_ENST00000597959.1_3'UTR	NM_174894.2	NP_777554.1	Q8IUR0	TPPC5_HUMAN	trafficking protein particle complex 5	162					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|TRAPP complex (GO:0030008)				NS(1)|lung(2)	3						AAGGTCACGGCGCACTGGCAC	0.652																																						ENST00000317378.5																			0				NS(1)|lung(2)	3						c.(484-486)gCg>gGg		trafficking protein particle complex 5							24	29	28					19																	7747624		2178	4265	6443	SO:0001583	missense	126003				vesicle-mediated transport	endoplasmic reticulum	guanylate cyclase activity|heme binding	g.chr19:7747624C>G	BC042161	CCDS42490.1	19p13.3	2011-10-10				ENSG00000181029		"Trafficking protein particle complex"	23067	protein-coding gene	gene with protein product							Standard	NM_001042462		Approved	MGC52424, TRS31	uc002mhj.2	Q8IUR0		ENST00000317378.5:c.485C>G	19.37:g.7747624C>G	ENSP00000316990:p.Ala162Gly					CTD-3214H19.16_ENST00000597959.1_3'UTR|TRAPPC5_ENST00000595985.1_Missense_Mutation_p.A95G|TRAPPC5_ENST00000596148.1_Missense_Mutation_p.A162G|TRAPPC5_ENST00000426877.2_Missense_Mutation_p.A162G	p.A162G	NM_174894.2	NP_777554.1	Q8IUR0	TPPC5_HUMAN			2	672	+			162					A8K7I6	Missense_Mutation	SNP	ENST00000317378.5	37	c.485C>G	CCDS42490.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890770	0.52014	.	.	ENSG00000181029	ENST00000317378;ENST00000426877	T;T	0.55052	0.54;0.54	3.93	3.93	0.45458	NO signalling/Golgi transport  ligand-binding domain (1);	0.149693	0.43416	U	0.000578	T	0.62429	0.2427	M	0.89030	3	0.47621	D	0.999477	B	0.31054	0.306	B	0.36378	0.223	T	0.70371	-0.4890	10	0.72032	D	0.01	-1.7404	13.4726	0.61290	0.0:1.0:0.0:0.0	.	162	Q8IUR0	TPPC5_HUMAN	G	162	ENSP00000316990:A162G;ENSP00000399025:A162G	ENSP00000316990:A162G	A	+	2	0	TRAPPC5	7653624	0.954000	0.32549	0.999000	0.59377	0.963000	0.63663	2.074000	0.41529	1.767000	0.52121	0.306000	0.20318	GCG		0.652	TRAPPC5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461252.1	XM_058961		6	6	0	0	0	1	0	6	6					G	7747624	C	G	7747624	3	3	386	1	0	0	0	0	1	0	0	0	16459	768	27	4	487	4	TRAPPC5	19	7747624	Missense_Mutation	SNP	C	TCGA-ET-A3BX-01A-11D-A19J-08		7747624	51381359	7	8038											
SPTBN4	57731	broad.mit.edu	37	chr19	41021270	41021270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgggccgcgttctggacGtgaaccacacagtccaggag	14	11	1	2			TCGA-ET-A3BX-01A-11D-A19J-08	TCGA-ET-A3BX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81ac96ae-fa67-46a4-a969-cd269e0a45ea	b5eda881-51a0-4255-bd6a-bbb070d97793	g.chr19:41021270G>A	ENST00000352632.3	+	15	2904	c.2818G>A	c.(2818-2820)Gtg>Atg	p.V940M	SPTBN4_ENST00000598249.1_Missense_Mutation_p.V940M|SPTBN4_ENST00000338932.3_Missense_Mutation_p.V940M|SPTBN4_ENST00000344104.3_Missense_Mutation_p.V940M|SPTBN4_ENST00000595535.1_Missense_Mutation_p.V940M			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	940					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGTTCTGGACGTGAACCACAC	0.612																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(2818-2820)Gtg>Atg		spectrin, beta, non-erythrocytic 4							53	39	44					19																	41021270		2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41021270G>A	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.2818G>A	19.37:g.41021270G>A	ENSP00000263373:p.Val940Met					SPTBN4_ENST00000338932.3_Missense_Mutation_p.V940M|SPTBN4_ENST00000598249.1_Missense_Mutation_p.V940M|SPTBN4_ENST00000595535.1_Missense_Mutation_p.V940M|SPTBN4_ENST00000344104.3_Missense_Mutation_p.V940M	p.V940M			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		15	2904	+			940					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.2818G>A	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358446	0.82243	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.54866	0.55;0.55;0.55	4.34	4.34	0.51931	.	0.240484	0.26723	N	0.022825	T	0.74306	0.3699	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.979;0.999	T	0.79401	-0.1819	10	0.72032	D	0.01	.	15.7914	0.78367	0.0:0.0:1.0:0.0	.	940;940	Q9H254;Q71S06	SPTN4_HUMAN;.	M	940	ENSP00000263373:V940M;ENSP00000340345:V940M;ENSP00000340741:V940M	ENSP00000340345:V940M	V	+	1	0	SPTBN4	45713110	1.000000	0.71417	0.996000	0.52242	0.841000	0.47740	6.526000	0.73799	2.256000	0.74724	0.491000	0.48974	GTG		0.612	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			3	14	0	0	0	1	0	3	14					A	41021270	G	A	41021270	3	1	386	1	0	0	0	0	1	0	0	0	15120	1145	40	1	2872	1	SPTBN4	19	41021270	Missense_Mutation	SNP	G	TCGA-ET-A3BX-01A-11D-A19J-08	33273646	41021270	18107713	8	8039											
TAS1R3	83756	broad.mit.edu	37	chr1	1269087	1269087	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacagcccactggttcaggCctcgggggggcccctggcct	16	15	1	0			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr1:1269087C>T	ENST00000339381.5	+	6	1834	c.1802C>T	c.(1801-1803)gCc>gTc	p.A601V		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	601					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	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;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		CTGGTTCAGGCCTCGGGGGGG	0.692																																						ENST00000339381.5																			0				kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(1801-1803)gCc>gTc		taste receptor, type 1, member 3	Aspartame(DB00168)						25	34	31					1																	1269087		2192	4292	6484	SO:0001583	missense	83756				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:1269087C>T	AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.1802C>T	1.37:g.1269087C>T	ENSP00000344411:p.Ala601Val						p.A601V	NM_152228.1	NP_689414.1	Q7RTX0	TS1R3_HUMAN		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	6	1834	+	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)	601					Q5TA49|Q8NGW9	Missense_Mutation	SNP	ENST00000339381.5	37	c.1802C>T	CCDS30556.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673671	0.47781	.	.	ENSG00000169962	ENST00000339381	D	0.89810	-2.57	4.2	4.2	0.49525	GPCR, family 3, C-terminal (2);	0.063428	0.64402	D	0.000005	D	0.94125	0.8116	M	0.86420	2.815	0.32213	N	0.576243	D	0.89917	1.0	D	0.79108	0.992	D	0.94208	0.7456	10	0.62326	D	0.03	.	10.6728	0.45768	0.0:0.9072:0.0:0.0928	.	601	Q7RTX0	TS1R3_HUMAN	V	601	ENSP00000344411:A601V	ENSP00000344411:A601V	A	+	2	0	TAS1R3	1258950	0.994000	0.37717	0.463000	0.27130	0.069000	0.16628	2.894000	0.48640	2.201000	0.70794	0.400000	0.26472	GCC		0.692	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1			3	13	0	0	0	0.150653	0	3	13					T	1269087	C	T	1269087	3	4	387	1	0	0	0	0	1	0	0	0	15561	739	26	2	1824	2	TAS1R3	1	1269087	Missense_Mutation	SNP	C	TCGA-ET-A3DO-01A-11D-A19J-08		1269087	247981534	1	8040											
C1orf213	80818	broad.mit.edu	37	chr1	23696056	23696056	+	5'Flank	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaagcccagatatcgtaggcTgatcctaaagactcagattc	9	10	1	4			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr1:23696056T>A	ENST00000314011.4	-	0	0				ZNF436_ENST00000374608.3_5'Flank|C1orf213_ENST00000335648.3_Missense_Mutation_p.L89Q|C1orf213_ENST00000518821.1_Intron|C1orf213_ENST00000458053.1_Intron|C1orf213_ENST00000437367.2_Intron|C1orf213_ENST00000454117.1_Intron|Y_RNA_ENST00000364535.1_RNA	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TATCGTAGGCTGATCCTAAAG	0.567																																						ENST00000335648.3																			0				kidney(1)	1						c.(265-267)cTg>cAg									64	65	65					1																	23696056		2203	4300	6503	SO:0001631	upstream_gene_variant	0							g.chr1:23696056T>A	AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"Zinc fingers, C2H2-type", "-"	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232		1.37:g.23696056T>A	Exception_encountered					C1orf213_ENST00000518821.1_Intron|C1orf213_ENST00000458053.1_Intron|C1orf213_ENST00000454117.1_Intron|C1orf213_ENST00000437367.2_Intron	p.L89Q						UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.97e-26)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;5.23e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)	1	328	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)						Q658I9	Missense_Mutation	SNP	ENST00000314011.4	37	c.266T>A	CCDS233.1	.	.	.	.	.	.	.	.	.	.	T	6.528	0.465686	0.12402	.	.	ENSG00000249087	ENST00000335648	.	.	.	3.17	-3.2	0.05156	.	.	.	.	.	T	0.24586	0.0596	.	.	.	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.28235	-1.0050	7	0.87932	D	0	.	1.0469	0.01571	0.278:0.1176:0.3749:0.2295	.	89	Q8NC38	CA213_HUMAN	Q	89	.	ENSP00000441287:L89Q	L	+	2	0	C1orf213	23568643	0.008000	0.16893	0.000000	0.03702	0.028000	0.11728	-0.210000	0.09345	-0.745000	0.04772	-0.757000	0.03467	CTG		0.567	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008908.1	NM_030634		13	35	0	0	0	0.435327	0	13	35					A	23696056	T	A	23696056	1	1	387	0	1	0	0	0	0	0	0	0	2030	1580	55	5		5	C1orf213	1	23696056	5'Flank	SNP	T	TCGA-ET-A3DO-01A-11D-A19J-08	22426969	23696056	225554565	2	8041											
SLFNL1	200172	broad.mit.edu	37	chr1	41486324	41486324	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtttgcactgatctcttcatGggggtcatgggaaggctctc	13	9	4	1	rs537062084		TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr1:41486324G>C	ENST00000359345.1	-	1	2585	c.9C>G	c.(7-9)ccC>ccG	p.P3P	SLFNL1_ENST00000372613.2_Silent_p.P3P|SLFNL1_ENST00000302946.8_Silent_p.P3P|SLFNL1_ENST00000439569.2_Silent_p.P3P|SLFNL1_ENST00000372611.1_Silent_p.P3P|SLFNL1_ENST00000397197.2_Silent_p.P3P	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	3							ATP binding (GO:0005524)			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				ATCTCTTCATGGGGGTCATGG	0.602																																						ENST00000359345.1																			0				endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(7-9)ccC>ccG		schlafen-like 1							29	30	30					1																	41486324		2201	4299	6500	SO:0001819	synonymous_variant	200172						ATP binding	g.chr1:41486324G>C	BC022037	CCDS460.1, CCDS72766.1	1p34.2	2008-02-05			ENSG00000171790	ENSG00000171790			26313	protein-coding gene	gene with protein product							Standard	NM_144990		Approved	FLJ23878	uc001cgm.2	Q499Z3	OTTHUMG00000005719	ENST00000359345.1:c.9C>G	1.37:g.41486324G>C						SLFNL1_ENST00000302946.8_Silent_p.P3P|SLFNL1_ENST00000439569.2_Silent_p.P3P|SLFNL1_ENST00000397197.2_Silent_p.P3P|SLFNL1_ENST00000372611.1_Silent_p.P3P|SLFNL1_ENST00000372613.2_Silent_p.P3P	p.P3P	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN			1	2585	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)	3					A8K8D1|Q49AG8|Q5VW72|Q5VW74|Q8N7V7|Q8TCH6|Q8WVZ8	Silent	SNP	ENST00000359345.1	37	c.9C>G	CCDS460.1																																																																																				0.602	SLFNL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015650.1	NM_144990		4	30	0	0	0	0.150653	0	4	30					C	41486324	G	C	41486324	2	2	387	1	0	0	0	0	0	0	0	1	14738	1335	47	4		4	SLFNL1	1	41486324	Silent	SNP	G	TCGA-ET-A3DO-01A-11D-A19J-08	17790268	41486324	207764297	3	8042											
NFIA	4774	broad.mit.edu	37	chr1	61743213	61743213	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcaagtcaatctgaaagtcCcagccagccaagtgacgctg	9	12	3	2			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr1:61743213C>G	ENST00000403491.3	+	3	1065	c.581C>G	c.(580-582)cCc>cGc	p.P194R	NFIA_ENST00000407417.3_Missense_Mutation_p.P186R|NFIA_ENST00000371187.3_Missense_Mutation_p.P194R|NFIA_ENST00000371191.1_Missense_Mutation_p.P217R|NFIA_ENST00000371189.4_Missense_Mutation_p.P239R|NFIA_ENST00000371185.2_Intron|NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000485903.2_Missense_Mutation_p.P194R|NFIA_ENST00000371184.2_Intron	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	194					DNA replication (GO:0006260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to organic cyclic compound (GO:0014070)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						TCTGAAAGTCCCAGCCAGCCA	0.458																																						ENST00000403491.3																		NFIA/EHF(2)	0				endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						c.(580-582)cCc>cGc		nuclear factor I/A							88	84	85					1																	61743213		2203	4300	6503	SO:0001583	missense	4774				DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:61743213C>G	U07809	CCDS615.1, CCDS44156.1, CCDS53322.1, CCDS53321.1	1p31.3-p31.2	2008-02-05			ENSG00000162599	ENSG00000162599			7784	protein-coding gene	gene with protein product		600727				7590749	Standard	NM_001134673		Approved	NFI-L, KIAA1439	uc010oos.2	Q12857	OTTHUMG00000008618	ENST00000403491.3:c.581C>G	1.37:g.61743213C>G	ENSP00000384523:p.Pro194Arg					NFIA_ENST00000485903.2_Missense_Mutation_p.P194R|NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000371185.2_Intron|NFIA_ENST00000371187.3_Missense_Mutation_p.P194R|NFIA_ENST00000371189.4_Missense_Mutation_p.P239R|NFIA_ENST00000371191.1_Missense_Mutation_p.P217R|NFIA_ENST00000407417.3_Missense_Mutation_p.P186R|NFIA_ENST00000371184.2_Intron	p.P194R	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN			3	1065	+			194					B4DRJ3|B4DS53|F5H0R0|F8W8W3|Q8TA97|Q9H3X9|Q9P2A9	Missense_Mutation	SNP	ENST00000403491.3	37	c.581C>G	CCDS44156.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711883	0.68730	.	.	ENSG00000162599	ENST00000371191;ENST00000407417;ENST00000371189;ENST00000403491;ENST00000485903;ENST00000371187	T;T;T;T;T;T	0.44881	0.91;0.93;0.91;0.91;0.94;0.92	6.02	6.02	0.97574	CTF transcription factor/nuclear factor 1, DNA-binding domain (1);	0.054084	0.64402	D	0.000001	T	0.62502	0.2433	L	0.49126	1.545	0.80722	D	1	D;D;D;D	0.76494	0.999;0.972;0.972;0.984	D;P;D;P	0.83275	0.996;0.804;0.954;0.904	T	0.58836	-0.7566	10	0.54805	T	0.06	-16.3017	20.5373	0.99239	0.0:1.0:0.0:0.0	.	239;217;194;194	F8W8W3;B1AKN8;Q12857;Q12857-2	.;.;NFIA_HUMAN;.	R	217;186;239;194;194;194	ENSP00000360233:P217R;ENSP00000384680:P186R;ENSP00000360231:P239R;ENSP00000384523:P194R;ENSP00000419785:P194R;ENSP00000360229:P194R	ENSP00000360229:P194R	P	+	2	0	NFIA	61515801	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.212000	0.72188	2.857000	0.98124	0.650000	0.86243	CCC		0.458	NFIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023799.3	NM_005595		22	46	0	0	0	0.608945	0	22	46					G	61743213	C	G	61743213	3	3	387	1	0	0	0	0	1	0	0	0	10370	623	22	4	737	4	NFIA	1	61743213	Missense_Mutation	SNP	C	TCGA-ET-A3DO-01A-11D-A19J-08	20256889	61743213	187507408	4	8043											
GPR98	84059	broad.mit.edu	37	chr5	90074772	90074772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggacagcggaagcaggcttgGattttgttcctgcagcaggg	16	8	0	0			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr5:90074772G>A	ENST00000405460.2	+	64	13036	c.12940G>A	c.(12940-12942)Gat>Aat	p.D4314N	GPR98_ENST00000425867.2_5'Flank	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4314	Calx-beta 29. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGCAGGCTTGGATTTTGTTCC	0.493																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(12940-12942)Gat>Aat		G protein-coupled receptor 98							139	146	143					5																	90074772		2107	4232	6339	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90074772G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.12940G>A	5.37:g.90074772G>A	ENSP00000384582:p.Asp4314Asn						p.D4314N	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	64	13036	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	4314			Calx-beta 29.		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.12940G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018523	0.93404	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.62498	0.02	5.61	5.61	0.85477	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	D	0.83649	0.5300	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.85667	0.1292	10	0.54805	T	0.06	.	19.6397	0.95753	0.0:0.0:1.0:0.0	.	4314	Q8WXG9	GPR98_HUMAN	N	4314	ENSP00000384582:D4314N	ENSP00000296619:D4314N	D	+	1	0	GPR98	90110528	1.000000	0.71417	0.107000	0.21349	0.089000	0.18198	8.849000	0.92178	2.632000	0.89209	0.655000	0.94253	GAT		0.493	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		8	114	0	0	0	0.307466	0	8	114					A	90074772	G	A	90074772	3	1	387	1	0	0	0	0	1	0	0	0	6721	1174	41	2	13194	2	GPR98	5	90074772	Missense_Mutation	SNP	G	TCGA-ET-A3DO-01A-11D-A19J-08		90074772	90840488	5	8044											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		16	45	0	0	0	0.557998	0	16	45					T	140453136	A	T	140453136	3	4	387	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A3DO-01A-11D-A19J-08		140453136	18685527	6	8045											
HTRA4	203100	broad.mit.edu	37	chr8	38831929	38831929	+	Frame_Shift_Del	DEL	C	C	-													gtctgccagcccacgcgctgCcccgcgctgcccacctgcgc							TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr8:38831929delC	ENST00000302495.4	+	1	247	c.147delC	c.(145-147)tgcfs	p.C49fs	CTD-2544N14.3_ENST00000520863.1_RNA	NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	49	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			CCACGCGCTGCCCCGCGCTGC	0.746																																						ENST00000302495.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11						c.(145-147)tgfs		HtrA serine peptidase 4							5	5	5					8																	38831929		2076	4003	6079	SO:0001589	frameshift_variant	203100				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr8:38831929delC	AK075205	CCDS6110.1	8p11.23	2008-02-05			ENSG00000169495	ENSG00000169495			26909	protein-coding gene	gene with protein product		610700					Standard	NM_153692		Approved	FLJ90724	uc003xmj.3	P83105	OTTHUMG00000164070	ENST00000302495.4:c.147delC	8.37:g.38831929delC	ENSP00000305919:p.Cys49fs						p.C49fs	NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.5e-07)		1	247	+		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	49			IGFBP N-terminal.		Q542Z4|Q6PF13	Frame_Shift_Del	DEL	ENST00000302495.4	37	c.147delC	CCDS6110.1																																																																																				0.746	HTRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377077.1	NM_153692		2	4						2	4	---	---	---	---	-	38831929	C	-	38831929	7	5	387	1	0	1	0	1	0	0	0	0	7456	747	26	0	149	0	HTRA4	8	38831929	Frame_Shift_Del	DEL	C	TCGA-ET-A3DO-01A-11D-A19J-08		38831929	107532093	7	8046											
PLEC	5339	broad.mit.edu	37	chr8	145009393	145009393	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtccaggagccgcgtcactcCcaggtcccgctccgccacag	11	19	1	0			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr8:145009393C>A	ENST00000322810.4	-	7	1271	c.1102G>T	c.(1102-1104)Gga>Tga	p.G368*	PLEC_ENST00000436759.2_Nonsense_Mutation_p.G258*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.G199*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.G217*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.G235*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.G258*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.G231*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.G231*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.G209*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	368	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.|Globular 1.				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						CGCGTCACTCCCAGGTCCCGC	0.657																																						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.(1102-1104)Gga>Tga		plectin							69	83	78					8																	145009393		2159	4258	6417	SO:0001587	stop_gained	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145009393C>A	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.1102G>T	8.37:g.145009393C>A	ENSP00000323856:p.Gly368*					PLEC_ENST00000345136.3_Nonsense_Mutation_p.G231*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.G258*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.G199*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.G231*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.G209*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.G217*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.G258*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.G235*	p.G368*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			7	1271	-			368			Actin-binding.|CH 2.|Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Nonsense_Mutation	SNP	ENST00000322810.4	37	c.1102G>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	c	36	5.970952	0.97156	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000528025	.	.	.	4.4	3.5	0.40072	.	0.182943	0.33309	U	0.005044	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.4977	0.55937	0.1685:0.8315:0.0:0.0	.	.	.	.	X	231;235;231;199;368;209;217;258;258;275	.	ENSP00000323856:G368X	G	-	1	0	PLEC	145081381	1.000000	0.71417	0.996000	0.52242	0.635000	0.38103	7.394000	0.79862	1.037000	0.40024	0.651000	0.88453	GGA		0.657	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		4	24	1	0	0.00909568	0.150653	0.00938909	4	24					A	145009393	C	A	145009393	4	1	387	1	0	0	0	0	0	1	0	0	12052	632	22	4	13056	4	PLEC	8	145009393	Nonsense_Mutation	SNP	C	TCGA-ET-A3DO-01A-11D-A19J-08	106177464	145009393	1354629	8	8047											
GALT	2592	broad.mit.edu	37	chr9	34649475	34649475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcacgctcattactaccctCcgctcctgcgctctgccact	6	19	2	0			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr9:34649475C>T	ENST00000378842.3	+	10	1015	c.973C>T	c.(973-975)Ccg>Tcg	p.P325S	GALT_ENST00000556278.1_Intron|IL11RA_ENST00000555003.1_5'Flank|GALT_ENST00000488412.2_3'UTR|GALT_ENST00000450095.2_Missense_Mutation_p.P216S|IL11RA_ENST00000441545.2_5'Flank	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	325			P -> L (in GALCT). {ECO:0000269|PubMed:9222760}.		carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)|UDP-glucose catabolic process (GO:0006258)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	UDP-glucose:hexose-1-phosphate uridylyltransferase activity (GO:0008108)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		TTACTACCCTCCGCTCCTGCG	0.577									Galactosemia																													ENST00000378842.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16						c.(973-975)Ccg>Tcg		galactose-1-phosphate uridylyltransferase							114	108	110					9																	34649475		2203	4300	6503	SO:0001583	missense	2592	Galactosemia	Familial Cancer Database	Galactose-1-Phosphate Uridyltransferase Deficiency	galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding	g.chr9:34649475C>T	M60091	CCDS6565.1, CCDS59122.1	9p13	2013-01-08			ENSG00000213930	ENSG00000213930	2.7.7.12		4135	protein-coding gene	gene with protein product		606999					Standard	NM_000155		Approved		uc003zve.4	P07902	OTTHUMG00000019836	ENST00000378842.3:c.973C>T	9.37:g.34649475C>T	ENSP00000368119:p.Pro325Ser					GALT_ENST00000556278.1_Intron|GALT_ENST00000450095.2_Missense_Mutation_p.P216S|GALT_ENST00000488412.2_3'UTR	p.P325S	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)	10	1015	+	all_epithelial(49;0.102)		325		P -> L (in GALCT).			B4E097|E7ET32|Q14355|Q14356|Q14357|Q14358|Q14359|Q14360|Q14361|Q14363|Q14364|Q14365|Q14369|Q14370|Q14371|Q14372|Q14373|Q14374|Q14375|Q14377|Q14378|Q14380|Q14381|Q14382|Q14383|Q14384|Q14385|Q14386|Q14387|Q14389|Q16766|Q53XK1|Q5VZ81|Q96BY1	Missense_Mutation	SNP	ENST00000378842.3	37	c.973C>T	CCDS6565.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.788187	0.90367	.	.	ENSG00000213930	ENST00000450095;ENST00000378842	D;D	0.99239	-5.61;-5.61	5.3	4.39	0.52855	Histidine triad motif (1);Galactose-1-phosphate uridyl transferase, C-terminal (1);Histidine triad-like motif (1);	0.000000	0.85682	U	0.000000	D	0.99527	0.9831	H	0.94345	3.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97999	1.0359	10	0.87932	D	0	-8.5874	13.118	0.59311	0.0:0.9199:0.0:0.0801	.	216;325	E7ET32;P07902	.;GALT_HUMAN	S	216;325	ENSP00000401956:P216S;ENSP00000368119:P325S	ENSP00000368119:P325S	P	+	1	0	GALT	34639475	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.646000	0.67916	2.487000	0.83934	0.555000	0.69702	CCG		0.577	GALT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052231.1	NM_000155		5	108	0	0	0	0.217242	0	5	108					T	34649475	C	T	34649475	3	4	387	1	0	0	0	0	1	0	0	0	6230	855	30	2	1011	2	GALT	9	34649475	Missense_Mutation	SNP	C	TCGA-ET-A3DO-01A-11D-A19J-08		34649475	106563956	9	8048											
LIG4	3981	broad.mit.edu	37	chr13	108861705	108861705	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taagtgctcaataattccaaTaactttcttcatctttgggg	6	8	4	0			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr13:108861705T>C	ENST00000356922.4	-	2	2184	c.1912A>G	c.(1912-1914)Att>Gtt	p.I638V	LIG4_ENST00000442234.1_Missense_Mutation_p.I638V|LIG4_ENST00000405925.1_Missense_Mutation_p.I638V	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	638					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					ATAATTCCAATAACTTTCTTC	0.358								Non-homologous end-joining																														ENST00000356922.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1912-1914)Att>Gtt	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							72	72	72					13																	108861705		2203	4299	6502	SO:0001583	missense	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108861705T>C	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"polydeoxyribonucleotide synthase [ATP] 4", "polynucleotide ligase", "sealase", "DNA repair enzyme", "DNA joinase"	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.1912A>G	13.37:g.108861705T>C	ENSP00000349393:p.Ile638Val					LIG4_ENST00000405925.1_Missense_Mutation_p.I638V|LIG4_ENST00000442234.1_Missense_Mutation_p.I638V	p.I638V	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN			2	2184	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		638					Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	c.1912A>G	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	T	0.369	-0.934801	0.02340	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.08370	3.1;3.1;3.1	5.7	-2.01	0.07410	BRCT (1);	0.219101	0.46758	N	0.000274	T	0.05135	0.0137	L	0.37561	1.115	0.30585	N	0.762138	B	0.02656	0.0	B	0.01281	0.0	T	0.31420	-0.9944	10	0.21540	T	0.41	.	6.4149	0.21712	0.0:0.3181:0.1212:0.5607	.	638	P49917	DNLI4_HUMAN	V	638	ENSP00000385955:I638V;ENSP00000402030:I638V;ENSP00000349393:I638V	ENSP00000349393:I638V	I	-	1	0	LIG4	107659706	0.182000	0.23173	0.060000	0.19600	0.645000	0.38454	0.513000	0.22770	0.034000	0.15491	0.445000	0.29226	ATT		0.358	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		26	51	0	0	0	0.654019	0	26	51					C	108861705	T	C	108861705	3	2	387	1	0	0	0	0	1	0	0	0	8783	1406	49	3	827	3	LIG4	13	108861705	Missense_Mutation	SNP	T	TCGA-ET-A3DO-01A-11D-A19J-08		108861705	6308173	10	8049											
CGNL1	84952	broad.mit.edu	37	chr15	57730273	57730273	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagactcgcaagtgatgatAcccaaaaatcaaggagttcc	9	9	1	3			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr15:57730273A>G	ENST00000281282.5	+	2	154	c.76A>G	c.(76-78)Acc>Gcc	p.T26A		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	26	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AAGTGATGATACCCAAAAATC	0.483																																						ENST00000281282.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60						c.(76-78)Acc>Gcc		cingulin-like 1							152	161	158					15																	57730273		2192	4292	6484	SO:0001583	missense	84952					myosin complex|tight junction	motor activity	g.chr15:57730273A>G	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.76A>G	15.37:g.57730273A>G	ENSP00000281282:p.Thr26Ala						p.T26A	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	2	154	+			26			Head.		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	c.76A>G	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	A	3.678	-0.066045	0.07273	.	.	ENSG00000128849	ENST00000281282	T	0.07800	3.16	4.71	1.16	0.20824	.	0.534633	0.15746	N	0.246662	T	0.07728	0.0194	L	0.50333	1.59	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28744	-1.0034	10	0.49607	T	0.09	-5.6964	5.2109	0.15316	0.5494:0.1463:0.3043:0.0	.	26	Q0VF96	CGNL1_HUMAN	A	26	ENSP00000281282:T26A	ENSP00000281282:T26A	T	+	1	0	CGNL1	55517565	0.000000	0.05858	0.001000	0.08648	0.073000	0.16967	0.162000	0.16501	0.035000	0.15519	0.459000	0.35465	ACC		0.483	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		12	169	0	0	0	0.38729	0	12	169					G	57730273	A	G	57730273	3	3	387	1	0	0	0	0	1	0	0	0	3304	391	14	3	78	3	CGNL1	15	57730273	Missense_Mutation	SNP	A	TCGA-ET-A3DO-01A-11D-A19J-08		57730273	44801119	11	8050											
TMEM204	79652	broad.mit.edu	37	chr16	1591953	1591953	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatgcgcgcctgcaacctGgtggccacggccgcgctcac	13	16	1	1			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr16:1591953G>A	ENST00000566264.1	+	2	1015	c.312G>A	c.(310-312)ctG>ctA	p.L104L	TMEM204_ENST00000253934.5_Silent_p.L104L|IFT140_ENST00000426508.2_Intron	NM_024600.5	NP_078876.2	Q9BSN7	TM204_HUMAN	transmembrane protein 204	104					lymph vessel development (GO:0001945)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to stress (GO:0006950)|smooth muscle cell differentiation (GO:0051145)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Hepatocellular(780;0.219)				CCTGCAACCTGGTGGCCACGG	0.701																																						ENST00000566264.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11						c.(310-312)ctG>ctA		transmembrane protein 204							33	40	37					16																	1591953		2163	4244	6407	SO:0001819	synonymous_variant	79652				response to stress	adherens junction|integral to membrane		g.chr16:1591953G>A		CCDS42098.1	16p13.3	2008-02-05	2008-01-08	2008-01-08		ENSG00000131634			14158	protein-coding gene	gene with protein product		611002	"chromosome 16 open reading frame 30"	C16orf30			Standard	NM_024600		Approved	FLJ20898	uc002cmc.3	Q9BSN7		ENST00000566264.1:c.312G>A	16.37:g.1591953G>A						TMEM204_ENST00000253934.5_Silent_p.L104L|IFT140_ENST00000426508.2_Intron	p.L104L	NM_024600.5	NP_078876.2	Q9BSN7	TM204_HUMAN			2	1015	+		Hepatocellular(780;0.219)	104					D3DU76|Q3KRC1|Q9H7G5	Silent	SNP	ENST00000566264.1	37	c.312G>A	CCDS42098.1																																																																																				0.701	TMEM204-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432610.1	NM_024600		3	35	0	0	0	0.115264	0	3	35					A	1591953	G	A	1591953	2	1	387	1	0	0	0	0	0	0	0	1	16126	1335	47	2		2	TMEM204	16	1591953	Silent	SNP	G	TCGA-ET-A3DO-01A-11D-A19J-08		1591953	88762800	12	8051											
GPR179	440435	broad.mit.edu	37	chr17	36487270	36487270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgctgcctggccagggcctCggggaattccgccaggtacc	15	14	0	0			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr17:36487270C>T	ENST00000342292.4	-	11	2202	c.2182G>A	c.(2182-2184)Gag>Aag	p.E728K	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	728					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)				GCCAGGGCCTCGGGGAATTCC	0.687																																						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.(2182-2184)Gag>Aag		G protein-coupled receptor 179							24	28	27					17																	36487270		1937	4150	6087	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36487270C>T		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.2182G>A	17.37:g.36487270C>T	ENSP00000345060:p.Glu728Lys						p.E728K	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			11	2202	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	728						Missense_Mutation	SNP	ENST00000342292.4	37	c.2182G>A	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	31	5.072841	0.93950	.	.	ENSG00000188888	ENST00000342292	T	0.63096	-0.02	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000004	T	0.78298	0.4261	M	0.71036	2.16	0.49213	D	0.999764	D	0.89917	1.0	D	0.70016	0.967	T	0.79593	-0.1739	10	0.62326	D	0.03	-27.6064	17.7583	0.88456	0.0:1.0:0.0:0.0	.	728	Q6PRD1	GP179_HUMAN	K	728	ENSP00000345060:E728K	ENSP00000345060:E728K	E	-	1	0	GPR179	33740796	1.000000	0.71417	0.970000	0.41538	0.719000	0.41307	6.869000	0.75521	2.722000	0.93159	0.655000	0.94253	GAG		0.687	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			3	25	0	0	0	0.115264	0	3	25					T	36487270	C	T	36487270	3	4	387	1	0	0	0	0	1	0	0	0	6674	893	31	1	4925	1	GPR179	17	36487270	Missense_Mutation	SNP	C	TCGA-ET-A3DO-01A-11D-A19J-08		36487270	44707940	13	8052											
NLRP4	147945	broad.mit.edu	37	chr19	56363698	56363698	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagatggatagaaaggatctCtgcatgaaggtcatgaggga	14	4	2	4			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr19:56363698C>T	ENST00000301295.6	+	2	674	c.252C>T	c.(250-252)ctC>ctT	p.L84L	NLRP4_ENST00000346986.5_Silent_p.L84L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	84	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GAAAGGATCTCTGCATGAAGG	0.443																																						ENST00000301295.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(250-252)ctC>ctT		NLR family, pyrin domain containing 4							73	76	75					19																	56363698		2203	4300	6503	SO:0001819	synonymous_variant	147945						ATP binding	g.chr19:56363698C>T	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.252C>T	19.37:g.56363698C>T						NLRP4_ENST00000346986.5_Silent_p.L84L	p.L84L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	2	674	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	84			DAPIN.		Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	c.252C>T	CCDS12936.1																																																																																				0.443	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		4	60	0	0	0	0.150653	0	4	60					T	56363698	C	T	56363698	2	4	387	1	0	0	0	0	0	0	0	1	10479	900	32	2		2	NLRP4	19	56363698	Silent	SNP	C	TCGA-ET-A3DO-01A-11D-A19J-08		56363698	2765285	14	8053											
KRTAP10-11	386678	broad.mit.edu	37	chr21	46067139	46067139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgctgtgtgcccgtctcctCctgctgtgcccccacctcct	8	20	1	0			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr21:46067139C>T	ENST00000334670.8	+	1	809	c.764C>T	c.(763-765)tCc>tTc	p.S255F	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60412	KR10B_HUMAN	keratin associated protein 10-11	255	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						CCCGTCTCCTCCTGCTGTGCC	0.701																																						ENST00000334670.8																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						c.(763-765)tCc>tTc		keratin associated protein 10-11							62	73	69					21																	46067139		2203	4299	6502	SO:0001583	missense	386678					keratin filament		g.chr21:46067139C>T	AB076359	CCDS42962.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000243489	ENSG00000243489		"Keratin associated proteins"	20528	protein-coding gene	gene with protein product			"keratin associated protein 10-11"	KRTAP18-11			Standard	NM_198692		Approved	KRTAP18.11, KAP18.11, KAP10.11	uc002zfr.4	P60412	OTTHUMG00000057626	ENST00000334670.8:c.764C>T	21.37:g.46067139C>T	ENSP00000334197:p.Ser255Phe					TSPEAR_ENST00000323084.4_Intron	p.S255F	NM_198692.2	NP_941965.2	P60411	KR109_HUMAN			1	809	+			249					A2RRF9	Missense_Mutation	SNP	ENST00000334670.8	37	c.764C>T	CCDS42962.1	.	.	.	.	.	.	.	.	.	.	c	11.88	1.771791	0.31320	.	.	ENSG00000243489	ENST00000334670	T	0.00784	5.7	3.36	2.4	0.29515	.	.	.	.	.	T	0.03095	0.0091	M	0.69358	2.11	0.33004	D	0.526623	D	0.89917	1.0	D	0.76575	0.988	T	0.30297	-0.9983	9	0.66056	D	0.02	.	10.1369	0.42712	0.0:0.7953:0.2047:0.0	.	255	P60412	KR10B_HUMAN	F	255	ENSP00000334197:S255F	ENSP00000334197:S255F	S	+	2	0	KRTAP10-11	44891567	0.735000	0.28153	0.976000	0.42696	0.111000	0.19643	0.575000	0.23729	1.428000	0.47296	0.462000	0.41574	TCC		0.701	KRTAP10-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128029.1	NM_198692		8	78	0	0	0	0.27861	0	8	78					T	46067139	C	T	46067139	3	4	387	1	0	0	0	0	1	0	0	0	8507	855	30	2	766	2	KRTAP10-11	21	46067139	Missense_Mutation	SNP	C	TCGA-ET-A3DO-01A-11D-A19J-08		46067139	2062756	15	8054											
DCX	1641	broad.mit.edu	37	chrX	110653418	110653418	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacggtcagaggacacagcgTacacaatccccttgaagtag	10	11	1	2			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chrX:110653418T>C	ENST00000338081.3	-	2	623	c.452A>G	c.(451-453)tAc>tGc	p.Y151C	DCX_ENST00000371993.2_Missense_Mutation_p.Y70C|DCX_ENST00000356915.2_Missense_Mutation_p.Y70C|DCX_ENST00000488120.1_Missense_Mutation_p.Y70C|DCX_ENST00000356220.3_Missense_Mutation_p.Y70C|DCX_ENST00000496551.1_5'UTR	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	151	Doublecortin 1. {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						GGACACAGCGTACACAATCCC	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.(451-453)tAc>tGc		doublecortin							299	214	243					X																	110653418		2203	4300	6503	SO:0001583	missense	1641				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	g.chrX:110653418T>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.452A>G	X.37:g.110653418T>C	ENSP00000337697:p.Tyr151Cys					DCX_ENST00000356915.2_Missense_Mutation_p.Y70C|DCX_ENST00000356220.3_Missense_Mutation_p.Y70C|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000488120.1_Missense_Mutation_p.Y70C|DCX_ENST00000371993.2_Missense_Mutation_p.Y70C	p.Y151C	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN			2	623	-			151			Doublecortin 1.		A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	37	c.452A>G	CCDS14556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.8|20.8	4.048199|4.048199	0.75846|0.75846	.|.	.|.	ENSG00000077279|ENSG00000077279	ENST00000358070|ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120;ENST00000468911	.|D;D;D;D;D;D	.|0.92149	.|-2.98;-2.98;-2.98;-2.98;-2.98;-2.98	5.37|5.37	5.37|5.37	0.77165|0.77165	.|Doublecortin domain (5);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96466|0.96466	0.8847|0.8847	M|M	0.88704|0.88704	2.975|2.975	0.80722|0.80722	D|D	1|1	.|D;P	.|0.89917	.|1.0;0.892	.|D;P	.|0.83275	.|0.996;0.852	D|D	0.97051|0.97051	0.9764|0.9764	5|10	.|0.66056	.|D	.|0.02	.|.	14.44|14.44	0.67309|0.67309	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|139;151	.|B4DM53;O43602	.|.;DCX_HUMAN	A|C	143|70;70;151;70;70;70	.|ENSP00000349385:Y70C;ENSP00000361061:Y70C;ENSP00000337697:Y151C;ENSP00000348553:Y70C;ENSP00000419861:Y70C;ENSP00000418811:Y70C	.|ENSP00000337697:Y151C	T|Y	-|-	1|2	0|0	DCX|DCX	110540074|110540074	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.868000|7.868000	0.87116|0.87116	1.986000|1.986000	0.57962|0.57962	0.417000|0.417000	0.27973|0.27973	ACG|TAC		0.527	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153		6	108	0	0	0	0.248553	0	6	108					C	110653418	T	C	110653418	3	2	387	1	0	0	0	0	1	0	0	0	4318	1638	57	3	912	3	DCX	23	110653418	Missense_Mutation	SNP	T	TCGA-ET-A3DO-01A-11D-A19J-08		110653418	44617142	16	8055											
SLC25A43	203427	broad.mit.edu	37	chrX	118585975	118585975	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttctgtttcctgtcaggctCagagcccctacctcccacac	6	18	3	1			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chrX:118585975C>T	ENST00000217909.7	+	4	1038	c.694C>T	c.(694-696)Cag>Tag	p.Q232*	SLC25A43_ENST00000336249.7_Missense_Mutation_p.S174L|SLC25A43_ENST00000488158.1_3'UTR	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN	solute carrier family 25, member 43	232					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						CTGTCAGGCTCAGAGCCCCTA	0.532																																						ENST00000217909.7																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						c.(694-696)Cag>Tag		solute carrier family 25, member 43							60	61	61					X																	118585975		2203	4300	6503	SO:0001587	stop_gained	203427				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chrX:118585975C>T	BC019584	CCDS14577.1	Xq24	2013-05-22			ENSG00000077713	ENSG00000077713		"Solute carriers"	30557	protein-coding gene	gene with protein product		300641				16949250	Standard	NM_145305		Approved		uc004erd.3	Q8WUT9	OTTHUMG00000022272	ENST00000217909.7:c.694C>T	X.37:g.118585975C>T	ENSP00000217909:p.Gln232*					SLC25A43_ENST00000336249.7_Missense_Mutation_p.S174L|SLC25A43_ENST00000488158.1_3'UTR	p.Q232*	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN			4	1038	+			232					O75854|Q8N9L5	Nonsense_Mutation	SNP	ENST00000217909.7	37	c.694C>T	CCDS14577.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.272790|5.272790	0.95429|0.95429	.|.	.|.	ENSG00000077713|ENSG00000077713	ENST00000217909;ENST00000326714|ENST00000336249	.|T	.|0.77620	.|-1.11	5.37|5.37	4.48|4.48	0.54585|0.54585	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69106	.|0.3074	.|.	.|.	.|.	0.26018|0.26018	N|N	0.981903|0.981903	.|B	.|0.11235	.|0.004	.|B	.|0.04013	.|0.001	.|T	.|0.57213	.|-0.7850	.|8	0.27082|0.35671	T|T	0.32|0.21	.|.	14.0422|14.0422	0.64684|0.64684	0.0:0.852:0.148:0.0|0.0:0.852:0.148:0.0	.|.	.|174	.|B4E1P8	.|.	X|L	232;180|174	.|ENSP00000338628:S174L	ENSP00000217909:Q232X|ENSP00000338628:S174L	Q|S	+|+	1|2	0|0	SLC25A43|SLC25A43	118470003|118470003	1.000000|1.000000	0.71417|0.71417	0.934000|0.934000	0.37439|0.37439	0.246000|0.246000	0.25737|0.25737	5.335000|5.335000	0.65929|0.65929	0.994000|0.994000	0.38892|0.38892	0.600000|0.600000	0.82982|0.82982	CAG|TCA		0.532	SLC25A43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058028.1	NM_145305		8	69	0	0	0	0.307466	0	8	69					T	118585975	C	T	118585975	4	4	387	1	0	0	0	0	0	1	0	0	14508	827	29	2	708	2	SLC25A43	23	118585975	Nonsense_Mutation	SNP	C	TCGA-ET-A3DO-01A-11D-A19J-08	7932557	118585975	36684585	17	8056											
ODZ1	10178	broad.mit.edu	37	chrX	123637463	123637463	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagaccagcctcctaggttaGaagcatccatctcaaaacct	6	13	1	2			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chrX:123637463G>A	ENST00000371130.3	-	19	3455	c.3392C>T	c.(3391-3393)tCt>tTt	p.S1131F	TENM1_ENST00000422452.2_Missense_Mutation_p.S1131F	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1131					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TCCTAGGTTAGAAGCATCCAT	0.378																																						ENST00000422452.2																			0											c.(3391-3393)tCt>tTt		teneurin transmembrane protein 1							181	176	178					X																	123637463		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123637463G>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.3392C>T	X.37:g.123637463G>A	ENSP00000360171:p.Ser1131Phe					TENM1_ENST00000371130.3_Missense_Mutation_p.S1131F	p.S1131F	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					19	3455	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.3392C>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705248	0.89018	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.87966	-2.32;-2.29	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.93167	0.7824	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	0.998;0.996;1.0	D;P;D	0.78314	0.991;0.903;0.986	D	0.93300	0.6676	10	0.59425	D	0.04	.	18.865	0.92289	0.0:0.0:1.0:0.0	.	1130;1131;1131	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	F	1131	ENSP00000360171:S1131F;ENSP00000403954:S1131F	ENSP00000360171:S1131F	S	-	2	0	ODZ1	123465144	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.402000	0.81655	0.600000	0.82982	TCT		0.378	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		14	250	0	0	0	0.520397	0	14	250					A	123637463	G	A	123637463	3	1	387	1	0	0	0	0	1	0	0	0	10834	942	33	2	4862	2	ODZ1	23	123637463	Missense_Mutation	SNP	G	TCGA-ET-A3DO-01A-11D-A19J-08	5051488	123637463	31633097	18	8057											
MAGEA1	4100	broad.mit.edu	37	chrX	152482113	152482113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctcctctctcaaagctgCttcacgcagggatgggaaga	10	12	3	1			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chrX:152482113C>T	ENST00000356661.5	-	3	1116	c.898G>A	c.(898-900)Gca>Aca	p.A300T		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	300	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCAAAGCTGCTTCACGCAGG	0.577																																						ENST00000356661.5																			0				breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(898-900)Gca>Aca		melanoma antigen family A, 1 (directs expression of antigen MZ2-E)							104	102	103					X																	152482113		2203	4300	6503	SO:0001583	missense	4100					cytoplasm|plasma membrane		g.chrX:152482113C>T		CCDS76051.1	Xq28	2010-05-26			ENSG00000198681	ENSG00000198681			6796	protein-coding gene	gene with protein product	"melanoma-associated antigen 1", "melanoma-associated antigen MZ2-E", "melanoma antigen MAGE-1", "melanoma antigen family A 1", "cancer/testis antigen family 1, member 1"	300016		MAGE1		1840703	Standard	NM_004988		Approved	MGC9326, CT1.1	uc004fhf.2	P43355	OTTHUMG00000024192	ENST00000356661.5:c.898G>A	X.37:g.152482113C>T	ENSP00000349085:p.Ala300Thr						p.A300T	NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN			3	1116	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		300			MAGE.		B2RC81|O00346	Missense_Mutation	SNP	ENST00000356661.5	37	c.898G>A	CCDS14720.1	.	.	.	.	.	.	.	.	.	.	C	9.878	1.200838	0.22121	.	.	ENSG00000198681	ENST00000356661	T	0.01767	4.65	1.28	0.353	0.16058	.	0.526287	0.20315	N	0.094757	T	0.01222	0.0040	L	0.47716	1.5	0.09310	N	1	P	0.42483	0.781	B	0.17722	0.019	T	0.51973	-0.8637	10	0.87932	D	0	.	3.1752	0.06566	0.0:0.6834:0.0:0.3166	.	300	P43355	MAGA1_HUMAN	T	300	ENSP00000349085:A300T	ENSP00000349085:A300T	A	-	1	0	MAGEA1	152135307	0.128000	0.22383	0.001000	0.08648	0.082000	0.17680	0.902000	0.28459	0.049000	0.15920	0.190000	0.17370	GCA		0.577	MAGEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060940.1	NM_004988		47	99	0	0	0	0.870114	0	47	99					T	152482113	C	T	152482113	3	4	387	1	0	0	0	0	1	0	0	0	9163	797	28	2	35	2	MAGEA1	23	152482113	Missense_Mutation	SNP	C	TCGA-ET-A3DO-01A-11D-A19J-08	28844650	152482113	2788447	19	8058											
PLEKHN1	84069	broad.mit.edu	37	chr1	907717	907717	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgccagctacgaggactaCggtcactggctgctgtgcct	13	13	1	0	rs371553226		TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr1:907717C>T	ENST00000379409.2	+	9	1101	c.1071C>T	c.(1069-1071)taC>taT	p.Y357Y	PLEKHN1_ENST00000379410.3_Silent_p.Y305Y|PLEKHN1_ENST00000379407.3_Silent_p.Y317Y			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	357	PH 2.									central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		ACGAGGACTACGGTCACTGGC	0.687																																						ENST00000379409.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9						c.(1069-1071)taC>taT		pleckstrin homology domain containing, family N member 1		C	,	1,4403	2.1+/-5.4	0,1,2201	30	29	30		951,915	0.2	0.4	1		30	0,8590		0,0,4295	no	coding-synonymous,coding-synonymous	PLEKHN1	NM_001160184.1,NM_032129.2	,	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	,	317/577,305/612	907717	1,12993	2202	4295	6497	SO:0001819	synonymous_variant	84069							g.chr1:907717C>T	AL136730	CCDS4.1, CCDS53256.1	1p36.33	2013-01-11			ENSG00000187583	ENSG00000187583		"Pleckstrin homology (PH) domain containing"	25284	protein-coding gene	gene with protein product						11230166	Standard	NM_032129		Approved	DKFZP434H2010	uc001acd.3	Q494U1	OTTHUMG00000040756	ENST00000379409.2:c.1071C>T	1.37:g.907717C>T						PLEKHN1_ENST00000379407.2_Silent_p.Y317Y|PLEKHN1_ENST00000379410.3_Silent_p.Y305Y	p.Y357Y			Q494U1	PKHN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	9	1101	+	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)	357			PH 2.		Q494U2|Q5SV98|Q9H0M7	Silent	SNP	ENST00000379409.2	37	c.1071C>T																																																																																					0.687	PLEKHN1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000473256.1	NM_032129		3	47	0	0	0	0.000248	0	3	47					T	907717	C	T	907717	2	4	388	1	0	0	0	0	0	0	0	1	12083	547	19	1		1	PLEKHN1	1	907717	Silent	SNP	C	TCGA-ET-A3DP-01A-11D-A21A-08		907717	248342904	1	8059											
LIMD1	8994	broad.mit.edu	37	chr3	45636405	45636405	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acgacctgggcctggaggccAgtaaattcatcgaggacctg	13	11	1	0			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr3:45636405A>T	ENST00000273317.4	+	1	55	c.34A>T	c.(34-36)Agt>Tgt	p.S12C	AC099539.1_ENST00000516118.1_RNA|LIMD1_ENST00000440097.1_Missense_Mutation_p.S12C|LIMD1_ENST00000465039.1_Intron	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	12					cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CCTGGAGGCCAGTAAATTCAT	0.557																																						ENST00000273317.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10						c.(34-36)Agt>Tgt		LIM domains containing 1							75	78	77					3																	45636405		2203	4300	6503	SO:0001583	missense	8994				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding	g.chr3:45636405A>T	AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.34A>T	3.37:g.45636405A>T	ENSP00000273317:p.Ser12Cys					LIMD1_ENST00000440097.1_Missense_Mutation_p.S12C|LIMD1_ENST00000465039.1_Intron	p.S12C	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)	1	55	+			12					Q17RQ1|Q9BQQ9|Q9NQ47	Missense_Mutation	SNP	ENST00000273317.4	37	c.34A>T	CCDS2729.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.498507	0.85069	.	.	ENSG00000144791	ENST00000440097;ENST00000273317	T;T	0.73575	-0.76;-0.52	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.77123	0.4084	N	0.24115	0.695	0.49582	D	0.999808	D	0.89917	1.0	D	0.85130	0.997	T	0.80348	-0.1420	10	0.87932	D	0	.	13.2074	0.59805	1.0:0.0:0.0:0.0	.	12	Q9UGP4	LIMD1_HUMAN	C	12	ENSP00000394537:S12C;ENSP00000273317:S12C	ENSP00000273317:S12C	S	+	1	0	LIMD1	45611409	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.875000	0.92372	1.520000	0.48965	0.379000	0.24179	AGT		0.557	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257327.1	NM_014240		11	30	0	0	0	0.00245	0	11	30					T	45636405	A	T	45636405	3	4	388	1	0	0	0	0	1	0	0	0	8798	188	7	5	36	5	LIMD1	3	45636405	Missense_Mutation	SNP	A	TCGA-ET-A3DP-01A-11D-A21A-08		45636405	152386025	2	8060											
TRAIP	10293	broad.mit.edu	37	chr3	49866894	49866894	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacaggaaaaggatacaggCtggatgaattttgtccggcc	12	8	1	1	rs146306196	byFrequency	TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr3:49866894C>T	ENST00000331456.2	-	14	1397	c.1284G>A	c.(1282-1284)caG>caA	p.Q428Q	TRAIP_ENST00000469027.1_Silent_p.Q273Q	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	428	Interaction with CYLD.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|receptor signaling protein activity (GO:0005057)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGATACAGGCTGGATGAATT	0.577																																						ENST00000331456.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1282-1284)caG>caA		TRAF interacting protein							61	63	63					3																	49866894		2203	4300	6503	SO:0001819	synonymous_variant	10293				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr3:49866894C>T	BC019283	CCDS2806.1	3p21.31	2013-01-09			ENSG00000183763	ENSG00000183763		"RING-type (C3HC4) zinc fingers"	30764	protein-coding gene	gene with protein product	"ring finger protein 206"	605958				9104814	Standard	NM_005879		Approved	TRIP, RNF206	uc003cxs.1	Q9BWF2	OTTHUMG00000158269	ENST00000331456.2:c.1284G>A	3.37:g.49866894C>T						TRAIP_ENST00000469027.1_Silent_p.Q273Q	p.Q428Q	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	14	1397	-			428			Interaction with CYLD.		B5BU84|B5BUL3|O00467	Silent	SNP	ENST00000331456.2	37	c.1284G>A	CCDS2806.1																																																																																				0.577	TRAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350518.1	NM_005879		22	35	0	0	0	0.004656	0	22	35					T	49866894	C	T	49866894	2	4	388	1	0	0	0	0	0	0	0	1	16445	796	28	2		2	TRAIP	3	49866894	Silent	SNP	C	TCGA-ET-A3DP-01A-11D-A21A-08	4230489	49866894	148155536	3	8061											
KIAA1211	57482	broad.mit.edu	37	chr4	57180750	57180752	+	In_Frame_Del	DEL	AGG	AGG	-													cgcggaggagctcaaaaggcAggaggaggaggaggctgagg							TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr4:57180750_57180752delAGG	ENST00000504228.1	+	6	1187_1189	c.1082_1084delAGG	c.(1081-1086)caggag>cag	p.E365del	KIAA1211_ENST00000264229.6_In_Frame_Del_p.E365del|KIAA1211_ENST00000541073.1_In_Frame_Del_p.E358del			Q6ZU35	K1211_HUMAN	KIAA1211	365	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					ctcaaaaggcaggaggaggagga	0.704																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(1081-1086)cag>c		KIAA1211				29,3525		9,11,1757						3.3	0.0			8	44,7146		13,18,3564	no	coding	KIAA1211	NM_020722.1		22,29,5321	A1A1,A1R,RR		0.612,0.816,0.6794				73,10671				SO:0001651	inframe_deletion	57482							g.chr4:57180750_57180752delAGG	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.1082_1084delAGG	4.37:g.57180759_57180761delAGG	ENSP00000423366:p.Glu365del					KIAA1211_ENST00000541073.1_In_Frame_Del_p.QE354del|KIAA1211_ENST00000264229.6_In_Frame_Del_p.QE361del	p.QE361del			Q6ZU35	K1211_HUMAN			6	1187_1189	+	Glioma(25;0.08)|all_neural(26;0.101)		361			Glu-rich.		Q9NTE2|Q9NTP8|Q9ULK9	In_Frame_Del	DEL	ENST00000504228.1	37	c.1082_1084delAGG	CCDS43230.1																																																																																				0.704	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		2	4						2	4	---	---	---	---	-	57180752	AGG	-	57180750	7	5	388	1	0	1	0	1	0	0	0	0	8215	188	7	0	1100	0	KIAA1211	4	57180750	In_Frame_Del	DEL	AGG	TCGA-ET-A3DP-01A-11D-A21A-08		57180750	133973526	4	8062											
COL11A2	1302	broad.mit.edu	37	chr6	33139342	33139342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagtcgggccaatggggcCcttctcaccctgtgggacag	14	14	1	0			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr6:33139342C>T	ENST00000374708.4	-	41	3160	c.2902G>A	c.(2902-2904)Ggc>Agc	p.G968S	COL11A2_ENST00000357486.1_Missense_Mutation_p.G1033S|COL11A2_ENST00000395197.1_Missense_Mutation_p.G994S|COL11A2_ENST00000374712.1_Missense_Mutation_p.G973S|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1007S|COL11A2_ENST00000374714.1_Missense_Mutation_p.G1028S|COL11A2_ENST00000341947.2_Missense_Mutation_p.G1054S|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000361917.1_Missense_Mutation_p.G947S	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1054	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCAATGGGGCCCTTCTCACCC	0.617																																					Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(3160-3162)Ggc>Agc		collagen, type XI, alpha 2							28	30	30					6																	33139342		2203	4300	6503	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33139342C>T	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"Collagens"	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.2902G>A	6.37:g.33139342C>T	ENSP00000363840:p.Gly968Ser					COL11A2_ENST00000361917.1_Missense_Mutation_p.G947S|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1033S|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1007S|COL11A2_ENST00000374714.1_Missense_Mutation_p.G1028S|COL11A2_ENST00000374712.1_Missense_Mutation_p.G973S|COL11A2_ENST00000374708.4_Missense_Mutation_p.G968S|COL11A2_ENST00000395197.1_Missense_Mutation_p.G994S	p.G1054S	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			43	3387	-			1054			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.3160G>A	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.403879	0.42613	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.99607	-6.27;-4.82;-6.27;-6.27;-6.27;-6.27;-6.27;-6.27	3.79	3.79	0.43588	.	0.000000	0.85682	D	0.000000	D	0.99799	0.9914	H	0.98314	4.2	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.96868	0.9637	10	0.87932	D	0	.	13.1962	0.59740	0.0:1.0:0.0:0.0	.	947;968;1054	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	S	968;1054;1033;1028;1007;994;973;947	ENSP00000363840:G968S;ENSP00000339915:G1054S;ENSP00000350079:G1033S;ENSP00000363846:G1028S;ENSP00000363845:G1007S;ENSP00000378623:G994S;ENSP00000363844:G973S;ENSP00000355123:G947S	ENSP00000339915:G1054S	G	-	1	0	COL11A2	33247320	1.000000	0.71417	1.000000	0.80357	0.161000	0.22273	7.597000	0.82733	1.945000	0.56424	0.297000	0.19635	GGC		0.617	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			7	14	0	0	0	0.004482	0	7	14					T	33139342	C	T	33139342	3	4	388	1	0	0	0	0	1	0	0	0	3668	623	22	2	2146	2	COL11A2	6	33139342	Missense_Mutation	SNP	C	TCGA-ET-A3DP-01A-11D-A21A-08		33139342	137975725	5	8063											
TULP4	56995	broad.mit.edu	37	chr6	158923511	158923511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggtccctcagccctgcaGcagtgccaccctgaaccgcc	10	18	1	1			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr6:158923511G>A	ENST00000367097.3	+	13	4173	c.2816G>A	c.(2815-2817)aGc>aAc	p.S939N	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	939					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CAGCCCTGCAGCAGTGCCACC	0.672																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(2815-2817)aGc>aAc		tubby like protein 4							62	64	63					6																	158923511		2203	4300	6503	SO:0001583	missense	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158923511G>A		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"WD repeat domain containing"	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.2816G>A	6.37:g.158923511G>A	ENSP00000356064:p.Ser939Asn					TULP4_ENST00000367094.2_Intron	p.S939N	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	13	4173	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	939					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	c.2816G>A	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.180238	0.38511	.	.	ENSG00000130338	ENST00000367097	T	0.61742	0.08	4.49	3.61	0.41365	.	0.367408	0.31092	N	0.008266	T	0.34193	0.0889	L	0.38175	1.15	0.80722	D	1	B	0.19200	0.034	B	0.20577	0.03	T	0.37407	-0.9707	10	0.87932	D	0	-18.6353	14.7456	0.69488	0.0:0.8515:0.1484:0.0	.	939	Q9NRJ4	TULP4_HUMAN	N	939	ENSP00000356064:S939N	ENSP00000356064:S939N	S	+	2	0	TULP4	158843499	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.598000	0.46223	0.997000	0.38969	-0.270000	0.10280	AGC		0.672	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		4	128	0	0	0	0.000248	0	4	128					A	158923511	G	A	158923511	3	1	388	1	0	0	0	0	1	0	0	0	16773	971	34	2	2866	2	TULP4	6	158923511	Missense_Mutation	SNP	G	TCGA-ET-A3DP-01A-11D-A21A-08	125784169	158923511	12191556	6	8064											
PCLO	27445	broad.mit.edu	37	chr7	82584499	82584499	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctttgtatttgtgtgtttTatgcatcatttcttcataca	6	6	3	0			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr7:82584499T>C	ENST00000333891.9	-	5	6107	c.5770A>G	c.(5770-5772)Aaa>Gaa	p.K1924E	PCLO_ENST00000423517.2_Missense_Mutation_p.K1924E	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGTGTGTTTTATGCATCATT	0.358																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(5770-5772)Aaa>Gaa		piccolo presynaptic cytomatrix protein							57	54	55					7																	82584499		1870	4096	5966	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82584499T>C	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5770A>G	7.37:g.82584499T>C	ENSP00000334319:p.Lys1924Glu					PCLO_ENST00000333891.8_Missense_Mutation_p.K1924E	p.K1924E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	6107	-			1855						Missense_Mutation	SNP	ENST00000333891.9	37	c.5770A>G	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	12.16	1.854446	0.32791	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.34275	1.37;1.39	5.38	5.38	0.77491	.	.	.	.	.	T	0.50154	0.1599	L	0.54323	1.7	0.80722	D	1	D;D	0.59767	0.972;0.986	P;P	0.56398	0.797;0.797	T	0.53585	-0.8418	9	0.87932	D	0	.	15.3967	0.74801	0.0:0.0:0.0:1.0	.	1924;1924	Q9Y6V0-5;Q9Y6V0-6	.;.	E	1855;1924;1924	ENSP00000334319:K1924E;ENSP00000388393:K1924E	ENSP00000334319:K1924E	K	-	1	0	PCLO	82422435	1.000000	0.71417	0.959000	0.39883	0.991000	0.79684	5.986000	0.70563	2.036000	0.60181	0.533000	0.62120	AAA		0.358	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		4	4	0	0	0	0.000602	0	4	4					C	82584499	T	C	82584499	3	2	388	1	0	0	0	0	1	0	0	0	11583	1763	61	3	9759	3	PCLO	7	82584499	Missense_Mutation	SNP	T	TCGA-ET-A3DP-01A-11D-A21A-08		82584499	76554164	7	8065											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		16	20	0	0	0	0.008871	0	16	20					T	140453136	A	T	140453136	3	4	388	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A3DP-01A-11D-A21A-08	57868637	140453136	18685527	8	8066											
TCF7L2	6934	broad.mit.edu	37	chr10	114911638	114911638	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatcaaccagatccttgggCggagggtaggtgacgccctt	13	12	1	2			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr10:114911638C>A	ENST00000355995.4	+	10	1663	c.1156C>A	c.(1156-1158)Cgg>Agg	p.R386R	TCF7L2_ENST00000542695.1_Silent_p.R102R|TCF7L2_ENST00000543371.1_Silent_p.R386R|TCF7L2_ENST00000369386.1_Silent_p.R29R|TCF7L2_ENST00000536810.1_Silent_p.R386R|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000369397.4_Silent_p.R363R|TCF7L2_ENST00000369389.1_Silent_p.R97R|TCF7L2_ENST00000534894.1_Silent_p.R386R|TCF7L2_ENST00000352065.5_Silent_p.R363R|TCF7L2_ENST00000355717.4_Silent_p.R410R|TCF7L2_ENST00000545257.1_Silent_p.R386R|TCF7L2_ENST00000538897.1_Silent_p.R386R			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	386	Mediates interaction with MAD2L2.				blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|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)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		GATCCTTGGGCGGAGGGTAGG	0.547			T	VTI1A	colorectal																																	ENST00000545257.1				Dom	yes		10	10q25.3	6934	T	transcription factor 7-like 2			E	VTI1A		colorectal	VTI1A/TCF7L2(8)	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41						c.(1156-1158)Cgg>Agg		transcription factor 7-like 2 (T-cell specific, HMG-box)							57	55	56					10																	114911638		2203	4300	6503	SO:0001819	synonymous_variant	6934				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr10:114911638C>A	X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.1156C>A	10.37:g.114911638C>A						TCF7L2_ENST00000543371.1_Silent_p.R386R|TCF7L2_ENST00000534894.1_Silent_p.R386R|TCF7L2_ENST00000538897.1_Silent_p.R386R|TCF7L2_ENST00000536810.1_Silent_p.R386R|TCF7L2_ENST00000355717.4_Silent_p.R410R|TCF7L2_ENST00000352065.5_Silent_p.R363R|TCF7L2_ENST00000369386.1_Silent_p.R29R|TCF7L2_ENST00000542695.1_Silent_p.R102R|TCF7L2_ENST00000355995.4_Silent_p.R386R|TCF7L2_ENST00000369389.1_Silent_p.R97R|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000369397.4_Silent_p.R363R	p.R386R			Q9NQB0	TF7L2_HUMAN		Epithelial(162;0.00554)|all cancers(201;0.02)	10	1663	+		Breast(234;0.058)|Colorectal(252;0.0615)	386			Mediates interaction with MAD2L2.		B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Silent	SNP	ENST00000355995.4	37	c.1156C>A																																																																																					0.547	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		3	58	1	0	1.23904e-05	0.000602	2.47808e-05	3	58					A	114911638	C	A	114911638	2	1	388	1	0	0	0	0	0	0	0	1	15695	759	27	4		4	TCF7L2	10	114911638	Silent	SNP	C	TCGA-ET-A3DP-01A-11D-A21A-08		114911638	20623109	9	8067											
TSSK4	283629	broad.mit.edu	37	chr14	24676436	24676436	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgccaagatggtgccttcTaaccagcctgtgggttgtag	12	9	1	1			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr14:24676436T>C	ENST00000287913.6	+	3	693	c.525T>C	c.(523-525)tcT>tcC	p.S175S	TSSK4_ENST00000339917.5_Silent_p.S185S|AL136419.6_ENST00000565988.1_RNA|TM9SF1_ENST00000556387.1_Intron|TSSK4_ENST00000556621.1_Silent_p.S99S|TSSK4_ENST00000428351.2_Intron|CHMP4A_ENST00000542700.2_5'Flank|TM9SF1_ENST00000530611.1_Intron			Q6SA08	TSSK4_HUMAN	testis-specific serine kinase 4	175	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|positive regulation of CREB transcription factor activity (GO:0032793)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8				GBM - Glioblastoma multiforme(265;0.018)		TGGTGCCTTCTAACCAGCCTG	0.502																																						ENST00000339917.5																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						c.(553-555)tcT>tcC		testis-specific serine kinase 4							208	176	187					14																	24676436		2203	4300	6503	SO:0001819	synonymous_variant	283629				cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:24676436T>C	AF542390	CCDS9618.1, CCDS53890.1	14q11.2	2006-03-31	2005-03-10	2005-03-12	ENSG00000139908	ENSG00000139908			19825	protein-coding gene	gene with protein product	"chromosome 14 open reading frame 20"	610711	"serine/threonine kinase 22E"	C14orf20, STK22E			Standard	NM_174944		Approved		uc001wnh.3	Q6SA08	OTTHUMG00000029323	ENST00000287913.6:c.525T>C	14.37:g.24676436T>C						TSSK4_ENST00000428351.2_Intron|TSSK4_ENST00000556621.1_Silent_p.S99S|TSSK4_ENST00000287913.6_Silent_p.S175S|TM9SF1_ENST00000556387.1_Intron|TM9SF1_ENST00000530611.1_Intron	p.S185S	NM_001184739.1|NM_174944.3	NP_001171668.1|NP_777604.2	Q6SA08	TSSK4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	3	759	+			175			Protein kinase.		Q2TA60|Q6ZNM2	Silent	SNP	ENST00000287913.6	37	c.555T>C	CCDS9618.1																																																																																				0.502	TSSK4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000073139.3	NM_174944		8	134	0	0	0	0.008291	0	8	134					C	24676436	T	C	24676436	2	2	388	1	0	0	0	0	0	0	0	1	16668	1509	53	3		3	TSSK4	14	24676436	Silent	SNP	T	TCGA-ET-A3DP-01A-11D-A21A-08		24676436	82673104	10	8068											
DNAH2	146754	broad.mit.edu	37	chr17	7722542	7722542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggcttaccgcccatgcGcccagcgggcatcaatcctg	12	16	1	0	rs373672740		TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr17:7722542G>A	ENST00000572933.1	+	72	12291	c.10831G>A	c.(10831-10833)Gcc>Acc	p.A3611T	DNAH2_ENST00000389173.2_Missense_Mutation_p.A3611T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3611					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)	p.A3611T(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCGCCCATGCGCCCAGCGGGC	0.607																																						ENST00000572933.1																			1	Substitution - Missense(1)	p.A3611T(1)	large_intestine(1)	NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(10831-10833)Gcc>Acc		dynein, axonemal, heavy chain 2		G	THR/ALA	0,4406		0,0,2203	71	58	63		10831	4.0	0.9	17		63	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNAH2	NM_020877.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	3611/4428	7722542	1,13005	2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7722542G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.10831G>A	17.37:g.7722542G>A	ENSP00000458355:p.Ala3611Thr					DNAH2_ENST00000389173.2_Missense_Mutation_p.A3611T	p.A3611T			Q9P225	DYH2_HUMAN			72	12291	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3611					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.10831G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591222	0.66219	0.0	1.16E-4	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.62232	0.04	4.02	4.02	0.46733	.	0.000000	0.64402	D	0.000001	D	0.87414	0.6171	H	0.99545	4.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.948	D	0.92179	0.5750	10	0.87932	D	0	.	13.5202	0.61563	0.0:0.0:1.0:0.0	.	3572;3611	Q9P225-2;Q9P225	.;DYH2_HUMAN	T	3572;3611	ENSP00000373825:A3611T	ENSP00000353818:A3572T	A	+	1	0	DNAH2	7663267	1.000000	0.71417	0.919000	0.36401	0.159000	0.22180	9.017000	0.93651	2.228000	0.72767	0.561000	0.74099	GCC		0.607	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		5	102	0	0	0	0.001984	0	5	102					A	7722542	G	A	7722542	3	1	388	1	0	0	0	0	1	0	0	0	4602	1087	38	1	11113	1	DNAH2	17	7722542	Missense_Mutation	SNP	G	TCGA-ET-A3DP-01A-11D-A21A-08		7722542	73472668	11	8069											
FBXL20	84961	broad.mit.edu	37	chr17	37431233	37431233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatgtttacctaagccgtgGgcagttctgacctagagcat	10	9	1	2			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr17:37431233G>A	ENST00000264658.6	-	10	1077	c.817C>T	c.(817-819)Cca>Tca	p.P273S	FBXL20_ENST00000583610.1_Missense_Mutation_p.P273S|FBXL20_ENST00000577399.1_Missense_Mutation_p.P275S|FBXL20_ENST00000394294.3_Missense_Mutation_p.P241S	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	273					behavioral fear response (GO:0001662)	cytoplasm (GO:0005737)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			CTAAGCCGTGGGCAGTTCTGA	0.408																																						ENST00000264658.6																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(817-819)Cca>Tca		F-box and leucine-rich repeat protein 20							122	113	116					17																	37431233		2203	4300	6503	SO:0001583	missense	84961					cytoplasm		g.chr17:37431233G>A	BC007557	CCDS32640.1, CCDS54116.1	17q21.2	2011-06-09				ENSG00000108306		"F-boxes / Leucine-rich repeats"	24679	protein-coding gene	gene with protein product		609086				12477932	Standard	NM_032875		Approved	MGC15482, Fbl2, Fbl20	uc002hrt.3	Q96IG2		ENST00000264658.6:c.817C>T	17.37:g.37431233G>A	ENSP00000264658:p.Pro273Ser					FBXL20_ENST00000394294.3_Missense_Mutation_p.P241S|FBXL20_ENST00000583610.1_Missense_Mutation_p.P273S|FBXL20_ENST00000577399.1_Missense_Mutation_p.P275S	p.P273S	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	LUAD - Lung adenocarcinoma(14;0.146)		10	1077	-			273					A8K729|Q38J52	Missense_Mutation	SNP	ENST00000264658.6	37	c.817C>T	CCDS32640.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413695	0.62511	.	.	ENSG00000108306	ENST00000264658;ENST00000394294	T;T	0.51817	0.69;0.69	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.48021	0.1477	L	0.52759	1.655	0.80722	D	1	B;B	0.26935	0.164;0.049	B;B	0.29077	0.098;0.04	T	0.30880	-0.9963	10	0.33141	T	0.24	.	19.9446	0.97177	0.0:0.0:1.0:0.0	.	241;273	Q96IG2-2;Q96IG2	.;FXL20_HUMAN	S	273;241	ENSP00000264658:P273S;ENSP00000377832:P241S	ENSP00000264658:P273S	P	-	1	0	FBXL20	34684759	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.431000	0.80335	2.814000	0.96858	0.591000	0.81541	CCA		0.408	FBXL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444315.2	NM_032875		20	49	0	0	0	0.003954	0	20	49					A	37431233	G	A	37431233	3	1	388	1	0	0	0	0	1	0	0	0	5717	1232	43	2	517	2	FBXL20	17	37431233	Missense_Mutation	SNP	G	TCGA-ET-A3DP-01A-11D-A21A-08	29708691	37431233	43763977	12	8070											
ABCA5	23461	broad.mit.edu	37	chr17	67257831	67257831	+	Frame_Shift_Del	DEL	A	A	-													ttaaaattttcttaaaggtgAaagaagcaatataagtgaac							TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr17:67257831delA	ENST00000392676.3	-	25	3438	c.3374delT	c.(3373-3375)ttcfs	p.F1125fs	ABCA5_ENST00000392677.2_Frame_Shift_Del_p.F1126fs|ABCA5_ENST00000588877.1_Frame_Shift_Del_p.F1125fs			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1125					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	CTTAAAGGTGAAAGAAGCAAT	0.264																																						ENST00000392676.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.(3373-3375)tcfs		ATP-binding cassette, sub-family A (ABC1), member 5							19	19	19					17																	67257831		2192	4238	6430	SO:0001589	frameshift_variant	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67257831delA	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"ATP binding cassette transporters / subfamily A"	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.3374delT	17.37:g.67257831delA	ENSP00000376443:p.Phe1125fs					ABCA5_ENST00000392677.2_Frame_Shift_Del_p.F1126fs|ABCA5_ENST00000588877.1_Frame_Shift_Del_p.F1125fs	p.F1125fs			Q8WWZ7	ABCA5_HUMAN			25	3438	-	Breast(10;3.72e-11)		1125					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Frame_Shift_Del	DEL	ENST00000392676.3	37	c.3374delT	CCDS11685.1																																																																																				0.264	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		2	4						2	4	---	---	---	---	-	67257831	A	-	67257831	7	5	388	1	0	1	0	1	0	0	0	0	35	246	9	0	1614	0	ABCA5	17	67257831	Frame_Shift_Del	DEL	A	TCGA-ET-A3DP-01A-11D-A21A-08	29826598	67257831	13937379	13	8071											
BAHCC1	57597	broad.mit.edu	37	chr17	79409285	79409285	+	Frame_Shift_Del	DEL	G	G	-													ctgcgctagccagctgtgcaGggggcatgctggggcggcct							TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr17:79409285delG	ENST00000307745.7	+	9	910	c.910delG	c.(910-912)gggfs	p.G305fs																								CAGCTGTGCAGGGGGCATGCT	0.726																																						ENST00000307745.7																			0											c.(910-912)ggfs									3	4	3					17																	79409285		1715	3686	5401	SO:0001589	frameshift_variant	0							g.chr17:79409285delG																												ENST00000307745.7:c.910delG	17.37:g.79409285delG	ENSP00000303486:p.Gly305fs						p.G305fs							9	910	+									Frame_Shift_Del	DEL	ENST00000307745.7	37	c.910delG																																																																																					0.726	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				2	4						2	4	---	---	---	---	-	79409285	G	-	79409285	7	5	388	1	0	1	0	1	0	0	0	0	1296	1000	35	0	759	0	BAHCC1	17	79409285	Frame_Shift_Del	DEL	G	TCGA-ET-A3DP-01A-11D-A21A-08	12151454	79409285	1785925	14	8072											
ZMYND8	23613	broad.mit.edu	37	chr20	45891129	45891129	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaagggctttgggctgccGgataaactccctgcttgtcc	13	11	0	1			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr20:45891129G>A	ENST00000311275.7	-	12	1717	c.1464C>T	c.(1462-1464)tcC>tcT	p.S488S	ZMYND8_ENST00000536340.1_Silent_p.S515S|ZMYND8_ENST00000458360.2_Silent_p.S483S|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000540497.1_Intron|ZMYND8_ENST00000446994.2_Silent_p.S425S|ZMYND8_ENST00000262975.4_Silent_p.S488S|ZMYND8_ENST00000471951.2_Silent_p.S508S|ZMYND8_ENST00000355972.4_Silent_p.S488S|ZMYND8_ENST00000352431.2_Silent_p.S508S|ZMYND8_ENST00000372023.3_Silent_p.S483S|ZMYND8_ENST00000360911.3_Silent_p.S483S|ZMYND8_ENST00000461685.1_Silent_p.S508S|ZMYND8_ENST00000396281.4_Silent_p.S488S	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	488					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TTGGGCTGCCGGATAAACTCC	0.488																																						ENST00000311275.7																			0				NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(1462-1464)tcC>tcT		zinc finger, MYND-type containing 8							151	138	142					20																	45891129		2203	4300	6503	SO:0001819	synonymous_variant	23613						protein binding|zinc ion binding	g.chr20:45891129G>A	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"Zinc fingers, MYND-type", "Zinc fingers, PHD-type"	9397	protein-coding gene	gene with protein product		615713	"protein kinase C binding protein 1"	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.1464C>T	20.37:g.45891129G>A						ZMYND8_ENST00000262975.4_Silent_p.S488S|ZMYND8_ENST00000372023.3_Silent_p.S483S|ZMYND8_ENST00000352431.2_Silent_p.S508S|ZMYND8_ENST00000396281.4_Silent_p.S488S|ZMYND8_ENST00000355972.4_Silent_p.S488S|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000446994.2_Silent_p.S425S|ZMYND8_ENST00000461685.1_Silent_p.S508S|ZMYND8_ENST00000540497.1_Intron|ZMYND8_ENST00000536340.1_Silent_p.S515S|ZMYND8_ENST00000471951.2_Silent_p.S508S|ZMYND8_ENST00000458360.2_Silent_p.S483S|ZMYND8_ENST00000360911.3_Silent_p.S483S	p.S488S			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		12	1717	-			488					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Silent	SNP	ENST00000311275.7	37	c.1464C>T		.	.	.	.	.	.	.	.	.	.	G	4.955	0.177490	0.09443	.	.	ENSG00000101040	ENST00000467200	.	.	.	5.34	-10.7	0.00240	.	.	.	.	.	T	0.57519	0.2059	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69146	-0.5222	4	.	.	.	-19.7031	13.7368	0.62821	0.7224:0.0:0.1564:0.1212	.	.	.	.	W	415	.	.	R	-	1	2	ZMYND8	45324536	0.000000	0.05858	0.272000	0.24630	0.564000	0.35744	-3.168000	0.00574	-2.275000	0.00679	-0.977000	0.02584	CGG		0.488	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		4	51	0	0	0	0.000248	0	4	51					A	45891129	G	A	45891129	2	1	388	1	0	0	0	0	0	0	0	1	17708	1103	39	1		1	ZMYND8	20	45891129	Silent	SNP	G	TCGA-ET-A3DP-01A-11D-A21A-08		45891129	17134391	15	8073											
RPL36A	6173	broad.mit.edu	37	chrX	100650727	100650727	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgttacagggccaagtgatCcagttctaagtgtcatcttt	9	9	3	1			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chrX:100650727C>A	ENST00000553110.3	+	5	396	c.312C>A	c.(310-312)atC>atA	p.I104I	RPL36A-HNRNPH2_ENST00000409170.3_Intron|RPL36A_ENST00000471855.1_Silent_p.I23I|RPL36A_ENST00000427805.2_Silent_p.I140I			P83881	RL36A_HUMAN	ribosomal protein L36a	104					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			liver(4)|lung(1)|prostate(1)	6						GCCAAGTGATCCAGTTCTAAG	0.343																																						ENST00000427805.2																			0				liver(4)|lung(1)|prostate(1)	6						c.(418-420)atC>atA		ribosomal protein L36a							157	138	144					X																	100650727		2203	4300	6503	SO:0001819	synonymous_variant	6173							g.chrX:100650727C>A	BC001781	CCDS14483.1, CCDS14483.2	Xq22.1	2011-04-06	2002-01-15	2002-01-18	ENSG00000241343	ENSG00000241343		"L ribosomal proteins"	10359	protein-coding gene	gene with protein product		300902	"ribosomal protein L44"	RPL44		3461443	Standard	NM_021029		Approved	L36A		P83881	OTTHUMG00000022027	ENST00000553110.3:c.312C>A	X.37:g.100650727C>A						RPL36A-HNRNPH2_ENST00000409170.3_Intron|RPL36A_ENST00000553110.3_Silent_p.I104I|RPL36A_ENST00000471855.1_Silent_p.I23I	p.I140I	NM_021029.5	NP_066357.2					5	532	+								P09896|P10661|Q08ES5|Q5J9I6	Silent	SNP	ENST00000553110.3	37	c.420C>A																																																																																					0.343	RPL36A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021029		8	22	1	0	0.00185496	0.001855	0.00346259	8	22					A	100650727	C	A	100650727	2	1	388	1	0	0	0	0	0	0	0	1	13587	845	30	4		4	RPL36A	23	100650727	Silent	SNP	C	TCGA-ET-A3DP-01A-11D-A21A-08		100650727	54619833	16	8074											
CITED2	10370	broad.mit.edu	37	chr6	139694455	139694455	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgggcggcagcattgcagcGgggacgtgggccacggaggc	20	10	0	0			TCGA-ET-A3DQ-01A-11D-A19J-08	TCGA-ET-A3DQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d911ad12-c0cf-485b-acb4-13ce9e0385ea	c77ff260-24f6-413f-9bed-4f2975f54f41	g.chr6:139694455G>T	ENST00000367651.2	-	2	842	c.627C>A	c.(625-627)ccC>ccA	p.P209P	CITED2_ENST00000536159.1_Silent_p.P209P|CITED2_ENST00000537332.1_Silent_p.P209P	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2	209					adrenal cortex formation (GO:0035802)|bone morphogenesis (GO:0060349)|cardiac neural crest cell development involved in heart development (GO:0061308)|cell aging (GO:0007569)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|cranial nerve morphogenesis (GO:0021602)|decidualization (GO:0046697)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endocardial cushion development (GO:0003197)|erythrocyte development (GO:0048821)|granulocyte differentiation (GO:0030851)|heart development (GO:0007507)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|left/right axis specification (GO:0070986)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|outflow tract morphogenesis (GO:0003151)|peripheral nervous system development (GO:0007422)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of gene expression (GO:0010628)|positive regulation of male gonad development (GO:2000020)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|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)|pulmonary artery morphogenesis (GO:0061156)|regulation of organ formation (GO:0003156)|regulation of RNA biosynthetic process (GO:2001141)|response to estrogen (GO:0043627)|response to fluid shear stress (GO:0034405)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sex determination (GO:0007530)|skeletal muscle cell differentiation (GO:0035914)|spleen development (GO:0048536)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|LBD domain binding (GO:0050693)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		GCATTGCAGCGGGGACGTGGG	0.647																																					NSCLC(98;1219 1550 33720 43229 49330)	ENST00000367651.2																			0				large_intestine(1)|lung(4)	5						c.(625-627)ccC>ccA		Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2							43	46	45					6																	139694455		2203	4300	6503	SO:0001819	synonymous_variant	10370				adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr6:139694455G>T	U65093	CCDS5195.1, CCDS75530.1	6q23.3	2008-08-29			ENSG00000164442	ENSG00000164442			1987	protein-coding gene	gene with protein product		602937				8901575, 10552932	Standard	NM_006079		Approved	MRG1	uc021zfz.2	Q99967	OTTHUMG00000015691	ENST00000367651.2:c.627C>A	6.37:g.139694455G>T						CITED2_ENST00000536159.1_Silent_p.P209P|CITED2_ENST00000537332.1_Silent_p.P209P	p.P209P	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN		GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)	2	842	-	Breast(32;0.226)		209					O95426|Q5VTF4	Silent	SNP	ENST00000367651.2	37	c.627C>A	CCDS5195.1																																																																																				0.647	CITED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042463.1			12	84	1	0	0.000151284	0.435327	0.000172897	12	84					T	139694455	G	T	139694455	2	4	389	1	0	0	0	0	0	0	0	1	3440	1103	39	4		4	CITED2	6	139694455	Silent	SNP	G	TCGA-ET-A3DQ-01A-11D-A19J-08		139694455	31420612	1	8075											
CASP7	840	broad.mit.edu	37	chr10	115481474	115481474	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcaagtgcttccgaagcctGggttttgacgtgattgtcta	11	8	2	2			TCGA-ET-A3DQ-01A-11D-A19J-08	TCGA-ET-A3DQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d911ad12-c0cf-485b-acb4-13ce9e0385ea	c77ff260-24f6-413f-9bed-4f2975f54f41	g.chr10:115481474G>T	ENST00000345633.4	+	5	696	c.312G>T	c.(310-312)ctG>ctT	p.L104L	RP11-211N11.5_ENST00000448834.1_RNA|CASP7_ENST00000369315.1_Silent_p.L104L|CASP7_ENST00000369318.3_Silent_p.L104L|CASP7_ENST00000369331.4_Silent_p.L104L|CASP7_ENST00000369321.2_Silent_p.L137L|CASP7_ENST00000452490.2_Silent_p.L79L	NM_033339.4	NP_203125.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	104					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway (GO:0097193)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		TCCGAAGCCTGGGTTTTGACG	0.498																																						ENST00000369321.2																			0				kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8						c.(409-411)ctG>ctT		caspase 7, apoptosis-related cysteine peptidase							227	198	207					10																	115481474		2203	4300	6503	SO:0001819	synonymous_variant	840				activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding	g.chr10:115481474G>T	U37448	CCDS7580.1, CCDS7581.1, CCDS7582.1, CCDS58096.1, CCDS73200.1	10q25	2006-02-17	2005-08-17		ENSG00000165806	ENSG00000165806		"Caspases"	1508	protein-coding gene	gene with protein product		601761	"caspase 7, apoptosis-related cysteine protease"			8521391, 8576161	Standard	NM_033338		Approved	MCH3, CMH-1, ICE-LAP3	uc010qsa.3	P55210	OTTHUMG00000019076	ENST00000345633.4:c.312G>T	10.37:g.115481474G>T						CASP7_ENST00000369331.4_Silent_p.L104L|CASP7_ENST00000369315.1_Silent_p.L104L|CASP7_ENST00000452490.2_Silent_p.L79L|CASP7_ENST00000345633.4_Silent_p.L104L|CASP7_ENST00000369318.3_Silent_p.L104L	p.L137L	NM_033338.5	NP_203124.1	P55210	CASP7_HUMAN		Epithelial(162;0.012)|all cancers(201;0.014)	5	731	+		Colorectal(252;0.0946)|Breast(234;0.188)	104					B4DQU7|B5BU45|D3DRB8|Q13364|Q53YD5|Q5SVL0|Q5SVL3|Q96BA0	Silent	SNP	ENST00000345633.4	37	c.411G>T	CCDS7581.1																																																																																				0.498	CASP7-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050439.1	NM_033338		21	115	1	0	3.5997e-14	0.624587	4.54699e-14	21	115					T	115481474	G	T	115481474	2	4	389	1	0	0	0	0	0	0	0	1	2676	1335	47	4		4	CASP7	10	115481474	Silent	SNP	G	TCGA-ET-A3DQ-01A-11D-A19J-08		115481474	20053273	2	8076											
FAM86C	55199	broad.mit.edu	37	chr11	71502813	71502813	+	Intron	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatcctgtgtgtgtgaagcAcccgccgtcagtcaagtatg	12	11	2	1	rs200557451	byFrequency	TCGA-ET-A3DQ-01A-11D-A19J-08	TCGA-ET-A3DQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d911ad12-c0cf-485b-acb4-13ce9e0385ea	c77ff260-24f6-413f-9bed-4f2975f54f41	g.chr11:71502813A>C	ENST00000359244.4	+	3	182				FAM86C1_ENST00000426628.2_Missense_Mutation_p.H63P|FAM86C1_ENST00000346333.6_Intron	NM_018172.2	NP_060642.2	Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1									p.H63P(1)		lung(1)	1						TGTGTGAAGCACCCGCCGTCA	0.532																																						ENST00000426628.2																			1	Substitution - Missense(1)	p.H63P(1)	kidney(1)	lung(1)	1						c.(187-189)cAc>cCc		family with sequence similarity 86, member C1							89	89	89					11																	71502813		2200	4293	6493	SO:0001627	intron_variant	55199							g.chr11:71502813A>C	AK130709	CCDS8202.1, CCDS41686.1, CCDS44664.1	11q13.4	2011-07-07	2011-07-07	2011-07-07	ENSG00000158483	ENSG00000158483			25561	protein-coding gene	gene with protein product			"family with sequence similarity 86, member C"	FAM86C		12477932	Standard	NM_152563		Approved	FLJ10661, FLJ27199	uc001oqv.4	Q9NVL1	OTTHUMG00000160552	ENST00000359244.4:c.160-1613A>C	11.37:g.71502813A>C						FAM86C1_ENST00000359244.4_Intron|FAM86C1_ENST00000528685.1_Intron|FAM86C1_ENST00000346333.6_Intron	p.H63P	NM_001099653.1	NP_001093123.1	Q9NVL1	FA86C_HUMAN			3	207	+			60					Q8N5D3	Missense_Mutation	SNP	ENST00000359244.4	37	c.188A>C	CCDS41686.1	.	.	.	.	.	.	.	.	.	.	.	16.03	3.008016	0.54361	.	.	ENSG00000158483	ENST00000426628	T	0.25085	1.82	2.05	2.05	0.26809	.	.	.	.	.	T	0.32194	0.0821	.	.	.	0.80722	D	1	D	0.55172	0.97	P	0.51701	0.677	T	0.10520	-1.0626	8	0.66056	D	0.02	.	6.0007	0.19519	1.0:0.0:0.0:0.0	.	63	G3V0F7	.	P	63	ENSP00000391329:H63P	ENSP00000391329:H63P	H	+	2	0	FAM86C1	71180461	1.000000	0.71417	0.701000	0.30321	0.557000	0.35523	2.025000	0.41059	0.937000	0.37394	0.155000	0.16302	CAC		0.532	FAM86C1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361120.1	NM_152563		4	39	0	0	0	0.27861	0	4	39					C	71502813	A	C	71502813	1	2	389	0	1	0	0	0	0	0	0	0	5646	159	6	5		5	FAM86C	11	71502813	Intron	SNP	A	TCGA-ET-A3DQ-01A-11D-A19J-08		71502813	63503703	3	8077											
ZMYND15	84225	broad.mit.edu	37	chr17	4643964	4643964	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctagccttgagggccgctgcCggcagctggaggcccagatc	15	14	0	2	rs372994654		TCGA-ET-A3DQ-01A-11D-A19J-08	TCGA-ET-A3DQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d911ad12-c0cf-485b-acb4-13ce9e0385ea	c77ff260-24f6-413f-9bed-4f2975f54f41	g.chr17:4643964C>A	ENST00000433935.1	+	2	178	c.121C>A	c.(121-123)Cgg>Agg	p.R41R	ZMYND15_ENST00000269289.6_Silent_p.R41R|ZMYND15_ENST00000592813.1_Silent_p.R41R|CXCL16_ENST00000574412.1_5'Flank|CXCL16_ENST00000293778.6_5'Flank|ZMYND15_ENST00000573751.2_Silent_p.R41R	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	41					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						GGGCCGCTGCCGGCAGCTGGA	0.612																																						ENST00000433935.1																			0				endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						c.(121-123)Cgg>Agg		zinc finger, MYND-type containing 15							58	57	57					17																	4643964		2203	4300	6503	SO:0001819	synonymous_variant	84225						zinc ion binding	g.chr17:4643964C>A	AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"Zinc fingers, MYND-type"	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.121C>A	17.37:g.4643964C>A						ZMYND15_ENST00000269289.6_Silent_p.R41R|ZMYND15_ENST00000592813.1_Silent_p.R41R|ZMYND15_ENST00000573751.2_Silent_p.R41R	p.R41R	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN			2	178	+			41					B4DXY5|I3L296	Silent	SNP	ENST00000433935.1	37	c.121C>A	CCDS45584.1																																																																																				0.612	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439580.1	NM_032265		3	39	1	0	0.115264	0.115264	0.125743	3	39					A	4643964	C	A	4643964	2	1	389	1	0	0	0	0	0	0	0	1	17705	643	23	4		4	ZMYND15	17	4643964	Silent	SNP	C	TCGA-ET-A3DQ-01A-11D-A19J-08		4643964	76551246	4	8078											
KLHL14	57565	broad.mit.edu	37	chr18	30350455	30350455	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgggccgtcagggtcacgtCgcaaaacagctgcttcctcc	11	15	2	0			TCGA-ET-A3DQ-01A-11D-A19J-08	TCGA-ET-A3DQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d911ad12-c0cf-485b-acb4-13ce9e0385ea	c77ff260-24f6-413f-9bed-4f2975f54f41	g.chr18:30350455C>A	ENST00000359358.4	-	2	538	c.100G>T	c.(100-102)Gac>Tac	p.D34Y	KLHL14_ENST00000358095.4_Missense_Mutation_p.D34Y|AC012123.1_ENST00000426194.1_Intron	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	34	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						AGGGTCACGTCGCAAAACAGC	0.642																																						ENST00000359358.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						c.(100-102)Gac>Tac		kelch-like family member 14							73	52	59					18																	30350455		2203	4300	6503	SO:0001583	missense	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30350455C>A	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"Kelch-like", "BTB/POZ domain containing"	29266	protein-coding gene	gene with protein product	"printor"	613772	"kelch-like 14 (Drosophila)"			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.100G>T	18.37:g.30350455C>A	ENSP00000352314:p.Asp34Tyr					KLHL14_ENST00000358095.4_Missense_Mutation_p.D34Y|AC012123.1_ENST00000426194.1_Intron	p.D34Y	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN			2	538	-			34			BTB.		A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	37	c.100G>T	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	C	9.199	1.028088	0.19512	.	.	ENSG00000197705	ENST00000359358;ENST00000358095	T;T	0.70399	-0.48;-0.48	4.29	3.41	0.39046	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.051225	0.85682	D	0.000000	D	0.83626	0.5295	M	0.92077	3.27	0.58432	D	0.999997	P	0.45428	0.858	P	0.55749	0.783	D	0.85964	0.1472	10	0.87932	D	0	.	10.7975	0.46470	0.0:0.9051:0.0:0.0949	.	34	Q9P2G3	KLH14_HUMAN	Y	34	ENSP00000352314:D34Y;ENSP00000350808:D34Y	ENSP00000350808:D34Y	D	-	1	0	KLHL14	28604453	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.804000	0.69135	1.010000	0.39314	0.460000	0.39030	GAC		0.642	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			13	47	1	0	5.50884e-06	0.411799	6.6106e-06	13	47					A	30350455	C	A	30350455	3	1	389	1	0	0	0	0	1	0	0	0	8370	884	31	4	1818	4	KLHL14	18	30350455	Missense_Mutation	SNP	C	TCGA-ET-A3DQ-01A-11D-A19J-08		30350455	47726793	5	8079											
RYR1	6261	broad.mit.edu	37	chr19	38993288	38993288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggactctatgctgcataccGtgtaccgcctgtctcggggt	12	12	2	0			TCGA-ET-A3DQ-01A-11D-A19J-08	TCGA-ET-A3DQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d911ad12-c0cf-485b-acb4-13ce9e0385ea	c77ff260-24f6-413f-9bed-4f2975f54f41	g.chr19:38993288G>A	ENST00000359596.3	+	48	7756	c.7756G>A	c.(7756-7758)Gtg>Atg	p.V2586M	RYR1_ENST00000355481.4_Missense_Mutation_p.V2586M|RYR1_ENST00000360985.3_Missense_Mutation_p.V2586M			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2586	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCTGCATACCGTGTACCGCCT	0.637																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(7756-7758)Gtg>Atg		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						71	56	61					19																	38993288		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38993288G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.7756G>A	19.37:g.38993288G>A	ENSP00000352608:p.Val2586Met					RYR1_ENST00000359596.3_Missense_Mutation_p.V2586M|RYR1_ENST00000360985.3_Missense_Mutation_p.V2586M	p.V2586M	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		48	7887	+	all_cancers(60;7.91e-06)		2586			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.7756G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.952563	0.34471	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97328	-4.34;-4.34;-4.34	3.89	3.89	0.44902	.	0.089725	0.45126	U	0.000392	D	0.96065	0.8718	L	0.54323	1.7	0.34893	D	0.745763	D;D	0.67145	0.981;0.996	P;P	0.51833	0.681;0.547	D	0.97518	1.0071	10	0.87932	D	0	.	9.0581	0.36419	0.1066:0.0:0.8934:0.0	.	2586;2586	P21817-2;P21817	.;RYR1_HUMAN	M	2586	ENSP00000352608:V2586M;ENSP00000347667:V2586M;ENSP00000354254:V2586M	ENSP00000347667:V2586M	V	+	1	0	RYR1	43685128	0.961000	0.32948	0.995000	0.50966	0.516000	0.34256	1.856000	0.39389	2.159000	0.67721	0.313000	0.20887	GTG		0.637	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			3	43	0	0	0	0.150653	0	3	43					A	38993288	G	A	38993288	3	1	389	1	0	0	0	0	1	0	0	0	13768	1145	40	1	7946	1	RYR1	19	38993288	Missense_Mutation	SNP	G	TCGA-ET-A3DQ-01A-11D-A19J-08		38993288	20135695	6	8080											
ZDHHC8	29801	broad.mit.edu	37	chr22	20130550	20130550	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccaccgtagcatttttgCcccccatgcactgcccaacc	6	20	0	0			TCGA-ET-A3DQ-01A-11D-A19J-08	TCGA-ET-A3DQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d911ad12-c0cf-485b-acb4-13ce9e0385ea	c77ff260-24f6-413f-9bed-4f2975f54f41	g.chr22:20130550C>T	ENST00000334554.7	+	10	1538	c.1397C>T	c.(1396-1398)gCc>gTc	p.A466V	ZDHHC8_ENST00000405930.3_Missense_Mutation_p.A466V|ZDHHC8_ENST00000320602.7_Missense_Mutation_p.A374V	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	466					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					AGCATTTTTGCCCCCCATGCA	0.697																																						ENST00000334554.7																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20						c.(1396-1398)gCc>gTc		zinc finger, DHHC-type containing 8							22	26	24					22																	20130550		2196	4283	6479	SO:0001583	missense	29801					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chr22:20130550C>T	AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"Zinc fingers, DHHC-type"	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.1397C>T	22.37:g.20130550C>T	ENSP00000334490:p.Ala466Val					ZDHHC8_ENST00000405930.3_Missense_Mutation_p.A466V|ZDHHC8_ENST00000320602.7_Missense_Mutation_p.A374V	p.A466V	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN			10	1538	+	Colorectal(54;0.0993)		466					Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Missense_Mutation	SNP	ENST00000334554.7	37	c.1397C>T	CCDS13776.1	.	.	.	.	.	.	.	.	.	.	.	31	5.062668	0.93898	.	.	ENSG00000099904	ENST00000334554;ENST00000320602;ENST00000405930	T;T;T	0.73363	1.26;-0.74;1.21	4.78	4.78	0.61160	.	0.767770	0.12080	N	0.501423	T	0.73822	0.3636	N	0.22421	0.69	0.46241	D	0.99894	B;P;P	0.51057	0.226;0.941;0.615	B;P;B	0.51415	0.42;0.669;0.334	T	0.76075	-0.3092	10	0.62326	D	0.03	.	17.7975	0.88577	0.0:1.0:0.0:0.0	.	374;466;466	Q9ULC8-2;Q9ULC8-3;Q9ULC8	.;.;ZDHC8_HUMAN	V	466;374;466	ENSP00000334490:A466V;ENSP00000317804:A374V;ENSP00000384716:A466V	ENSP00000317804:A374V	A	+	2	0	ZDHHC8	18510550	1.000000	0.71417	0.985000	0.45067	0.939000	0.58152	7.442000	0.80503	2.215000	0.71742	0.484000	0.47621	GCC		0.697	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318564.1	NM_013373		3	41	0	0	0	0.115264	0	3	41					T	20130550	C	T	20130550	3	4	389	1	0	0	0	0	1	0	0	0	17618	739	26	2	1435	2	ZDHHC8	22	20130550	Missense_Mutation	SNP	C	TCGA-ET-A3DQ-01A-11D-A19J-08		20130550	31174016	7	8081											
NUP210L	91181	broad.mit.edu	37	chr1	154101784	154101784	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctctacaacatatatggtGcaatttgggagtccagacac	10	9	1	1			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr1:154101784G>A	ENST00000368559.3	-	8	1118	c.1047C>T	c.(1045-1047)tgC>tgT	p.C349C	NUP210L_ENST00000271854.3_Silent_p.C349C	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	349					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CATATATGGTGCAATTTGGGA	0.368																																						ENST00000368559.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(1045-1047)tgC>tgT		nucleoporin 210kDa-like							144	135	138					1																	154101784		1858	4103	5961	SO:0001819	synonymous_variant	91181					integral to membrane		g.chr1:154101784G>A	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.1047C>T	1.37:g.154101784G>A						NUP210L_ENST00000271854.3_Silent_p.C349C	p.C349C	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		8	1118	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		349					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	ENST00000368559.3	37	c.1047C>T	CCDS41399.1																																																																																				0.368	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		11	135	0	0	0	1	0	11	135					A	154101784	G	A	154101784	2	1	390	1	0	0	0	0	0	0	0	1	10761	1311	46	2		2	NUP210L	1	154101784	Silent	SNP	G	TCGA-ET-A3DR-01A-11D-A19J-08		154101784	95148837	1	8082											
GPR113	165082	broad.mit.edu	37	chr2	26536378	26536378	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacatggggcctgtgccacgTggccagccttggtgacattc	14	12	0	1			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr2:26536378T>G	ENST00000311519.1	-	9	1339	c.1340A>C	c.(1339-1341)cAc>cCc	p.H447P	GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000333478.6_Missense_Mutation_p.H248P|GPR113_ENST00000541401.1_Missense_Mutation_p.H50P|GPR113_ENST00000421160.2_Missense_Mutation_p.H378P	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	447					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTGCCACGTGGCCAGCCTT	0.612																																						ENST00000333478.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(742-744)cAc>cCc		G protein-coupled receptor 113							44	40	41					2																	26536378		2203	4300	6503	SO:0001583	missense	165082				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:26536378T>G	AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"-", "GPCR / Class B : Orphans"	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.1340A>C	2.37:g.26536378T>G	ENSP00000307831:p.His447Pro					GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Missense_Mutation_p.H378P|GPR113_ENST00000311519.1_Missense_Mutation_p.H447P|GPR113_ENST00000541401.1_Missense_Mutation_p.H50P	p.H248P	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN			6	1325	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		447					B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Missense_Mutation	SNP	ENST00000311519.1	37	c.743A>C	CCDS46239.1	.	.	.	.	.	.	.	.	.	.	T	11.77	1.738121	0.30774	.	.	ENSG00000173567	ENST00000541401;ENST00000333478;ENST00000421160;ENST00000311519	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.84	3.35	0.38373	GPCR, family 2, extracellular hormone receptor domain (2);	.	.	.	.	T	0.60560	0.2278	M	0.67953	2.075	0.19775	N	0.999955	B;P;B;P	0.48911	0.014;0.917;0.157;0.816	B;B;B;B	0.43508	0.017;0.388;0.105;0.422	T	0.50541	-0.8816	9	0.44086	T	0.13	-3.6669	9.4221	0.38557	0.2929:0.0:0.0:0.7071	.	378;248;447;50	E9PEV1;Q8IZF5-2;Q8IZF5;F5H1E4	.;.;GP113_HUMAN;.	P	50;248;378;447	ENSP00000445729:H50P;ENSP00000327396:H248P;ENSP00000388537:H378P;ENSP00000307831:H447P	ENSP00000307831:H447P	H	-	2	0	GPR113	26389882	0.054000	0.20591	0.379000	0.26080	0.948000	0.59901	0.160000	0.16462	0.410000	0.25675	0.459000	0.35465	CAC		0.612	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835		9	23	0	0	0	1	0	9	23					G	26536378	T	G	26536378	3	3	390	1	0	0	0	0	1	0	0	0	6630	1696	59	5	2008	5	GPR113	2	26536378	Missense_Mutation	SNP	T	TCGA-ET-A3DR-01A-11D-A19J-08		26536378	216662995	2	8083											
MED12L	116931	broad.mit.edu	37	chr3	151129080	151129080	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagaccatgccacagggCtatacaatgtatgggacaca	10	11	0	1			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr3:151129080C>T	ENST00000474524.1	+	39	5858	c.5820C>T	c.(5818-5820)ggC>ggT	p.G1940G	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1940	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGCCACAGGGCTATACAATGT	0.502																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(5818-5820)ggC>ggT		mediator complex subunit 12-like							77	69	72					3																	151129080		2203	4300	6503	SO:0001819	synonymous_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151129080C>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5820C>T	3.37:g.151129080C>T						MED12L_ENST00000273432.4_Intron	p.G1940G	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		39	5858	+			1940			Gln-rich.		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	c.5820C>T	CCDS33876.1																																																																																				0.502	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		39	77	0	0	0	1	0	39	77					T	151129080	C	T	151129080	2	4	390	1	0	0	0	0	0	0	0	1	9429	784	28	2		2	MED12L	3	151129080	Silent	SNP	C	TCGA-ET-A3DR-01A-11D-A19J-08		151129080	46893350	3	8084											
MEGF10	84466	broad.mit.edu	37	chr5	126792989	126792991	+	In_Frame_Del	DEL	CAG	CAG	-													agtggtggtagcagcagcaaCagcagcagcagcagtgaatg							TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr5:126792989_126792991delCAG	ENST00000274473.6	+	26	3669_3671	c.3402_3404delCAG	c.(3400-3405)aacagc>aac	p.S1139del	MEGF10_ENST00000503335.2_In_Frame_Del_p.S1139del	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	1139	Necessary for formation of large intracellular vacuoles.|Ser-rich.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		gcagcagcaacagcagcagcagc	0.512																																						ENST00000274473.6																			0				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(3400-3405)aac>aa		multiple EGF-like-domains 10																																				SO:0001651	inframe_deletion	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126792989_126792991delCAG	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.3402_3404delCAG	5.37:g.126792998_126793000delCAG	ENSP00000274473:p.Ser1139del					MEGF10_ENST00000503335.2_In_Frame_Del_p.NS1134del	p.NS1134del	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	26	3669_3671	+		Prostate(80;0.165)	1134			Necessary for formation of large intracellular vacuoles.|Ser-rich.		Q68DE5|Q8WUL3	In_Frame_Del	DEL	ENST00000274473.6	37	c.3402_3404delCAG	CCDS4142.1																																																																																				0.512	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		7	137						7	137	---	---	---	---	-	126792991	CAG	-	126792989	7	5	390	1	0	1	0	1	0	0	0	0	9460	477	17	0	3496	0	MEGF10	5	126792989	In_Frame_Del	DEL	CAG	TCGA-ET-A3DR-01A-11D-A19J-08		126792989	54122271	4	8085											
FBN2	2201	broad.mit.edu	37	chr5	127674746	127674746	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggagaaatcctgcactcGtcgatgtctaattcacaggg	10	10	3	1	rs78484531	byFrequency	TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr5:127674746G>A	ENST00000508053.1	-	32	4325	c.3351C>T	c.(3349-3351)gaC>gaT	p.D1117D	FBN2_ENST00000507835.1_De_novo_Start_OutOfFrame|FBN2_ENST00000508989.1_Silent_p.D1084D|FBN2_ENST00000262464.4_Silent_p.D1117D			P35556	FBN2_HUMAN	fibrillin 2	1117	EGF-like 16; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCCTGCACTCGTCGATGTCTA	0.458													G|||	2	0.000399361	0.0015	0	5008	,	,		20198	0		0	False		,,,				2504	0					ENST00000507835.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197								fibrillin 2		G		20,4386	27.2+/-55.0	0,20,2183	76	69	71		3351	-0.4	1.0	5	dbSNP_132	71	0,8600		0,0,4300	no	coding-synonymous	FBN2	NM_001999.3		0,20,6483	AA,AG,GG		0.0,0.4539,0.1538		1117/2913	127674746	20,12986	2203	4300	6503	SO:0001819	synonymous_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127674746G>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3351C>T	5.37:g.127674746G>A						FBN2_ENST00000508989.1_Silent_p.D1084D|FBN2_ENST00000262464.4_Silent_p.D1117D|FBN2_ENST00000508053.1_Silent_p.D1117D				P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	0	137	-		all_cancers(142;0.0216)|Prostate(80;0.0551)						B4DU01|Q59ES6	Translation_Start_Site	SNP	ENST00000508053.1	37		CCDS34222.1																																																																																				0.458	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		45	88	0	0	0	1	0	45	88					A	127674746	G	A	127674746	2	1	390	1	0	0	0	0	0	0	0	1	5703	1136	40	1		1	FBN2	5	127674746	Silent	SNP	G	TCGA-ET-A3DR-01A-11D-A19J-08	881757	127674746	53240514	5	8086											
HSPA4	3308	broad.mit.edu	37	chr5	132400700	132400700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcttttggtcctaagaatCgttcaattggagcagcagct	9	8	2	1			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr5:132400700C>T	ENST00000304858.2	+	2	425	c.136C>T	c.(136-138)Cgt>Tgt	p.R46C		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	46					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCTAAGAATCGTTCAATTGG	0.343																																					Colon(114;1299 1588 6063 12302 48757)	ENST00000304858.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32						c.(136-138)Cgt>Tgt		heat shock 70kDa protein 4							182	185	184					5																	132400700		2203	4300	6503	SO:0001583	missense	3308				cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding	g.chr5:132400700C>T	AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"Heat shock proteins / HSP70"	5237	protein-coding gene	gene with protein product	"hsp70 RY"	601113	"heat shock 70kD protein 4"			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.136C>T	5.37:g.132400700C>T	ENSP00000302961:p.Arg46Cys						p.R46C	NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	425	+			46					O95756|Q2TAL4|Q9BUK9	Missense_Mutation	SNP	ENST00000304858.2	37	c.136C>T	CCDS4166.1	.	.	.	.	.	.	.	.	.	.	C	34	5.296215	0.95574	.	.	ENSG00000170606	ENST00000304858;ENST00000321956;ENST00000537974	T	0.01252	5.1	5.69	5.69	0.88448	.	0.059112	0.64402	D	0.000003	T	0.13243	0.0321	H	0.95850	3.73	0.80722	D	1	D	0.65815	0.995	P	0.56823	0.807	T	0.04115	-1.0976	10	0.87932	D	0	-1.4824	19.8209	0.96592	0.0:1.0:0.0:0.0	.	46	P34932	HSP74_HUMAN	C	46	ENSP00000302961:R46C	ENSP00000302961:R46C	R	+	1	0	HSPA4	132428599	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.473000	0.81007	2.688000	0.91661	0.650000	0.86243	CGT		0.343	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431		6	157	0	0	0	1	0	6	157					T	132400700	C	T	132400700	3	4	390	1	0	0	0	0	1	0	0	0	7412	884	31	1	142	1	HSPA4	5	132400700	Missense_Mutation	SNP	C	TCGA-ET-A3DR-01A-11D-A19J-08	4725954	132400700	48514560	6	8087											
SASH1	23328	broad.mit.edu	37	chr6	148840738	148840738	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctggatgaacggtccgccctCtactctggcgtgcacaagaa	11	13	2	2			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr6:148840738C>G	ENST00000367467.3	+	10	1393	c.918C>G	c.(916-918)ctC>ctG	p.L306L		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	306					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GGTCCGCCCTCTACTCTGGCG	0.542																																						ENST00000367467.3																			0				breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(916-918)ctC>ctG		SAM and SH3 domain containing 1							80	82	81					6																	148840738		2203	4300	6503	SO:0001819	synonymous_variant	23328						protein binding	g.chr6:148840738C>G	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.918C>G	6.37:g.148840738C>G							p.L306L	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	10	1393	+		Ovarian(120;0.0169)	306					Q5TGN5|Q8TAI0|Q9H7R7	Silent	SNP	ENST00000367467.3	37	c.918C>G	CCDS5212.1																																																																																				0.542	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		39	43	0	0	0	1	0	39	43					G	148840738	C	G	148840738	2	3	390	1	0	0	0	0	0	0	0	1	13848	900	32	4		4	SASH1	6	148840738	Silent	SNP	C	TCGA-ET-A3DR-01A-11D-A19J-08		148840738	22274329	7	8088											
MLL5	55904	broad.mit.edu	37	chr7	104715089	104715089	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taatttttattttgtctgaaGatggtgataccagtgcaact	8	5	1	3			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr7:104715089G>T	ENST00000311117.3	+	8	1101		c.e8-1		KMT2E_ENST00000257745.4_Splice_Site|KMT2E_ENST00000334914.7_Splice_Site|KMT2E_ENST00000476671.1_Splice_Site|KMT2E_ENST00000334877.4_Splice_Site	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E						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)										TTTGTCTGAAGATGGTGATAC	0.333																																						ENST00000334877.4																			0											c.e8-1		lysine (K)-specific methyltransferase 2E							128	121	124					7																	104715089		2203	4300	6503	SO:0001630	splice_region_variant	55904							g.chr7:104715089G>T	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.557-1G>T	7.37:g.104715089G>T						KMT2E_ENST00000257745.4_Splice_Site|KMT2E_ENST00000476671.1_Splice_Site|KMT2E_ENST00000311117.3_Splice_Site|KMT2E_ENST00000334914.7_Splice_Site								8	1090	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Splice_Site	SNP	ENST00000311117.3	37		CCDS34723.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127440	0.77549	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000478990;ENST00000495267;ENST00000476671;ENST00000537308	.	.	.	5.44	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0214	0.64558	0.0727:0.0:0.9273:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MLL5	104502325	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.428000	0.97476	1.301000	0.44836	0.591000	0.81541	.		0.333	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1		Intron	66	130	1	0	3.07281e-33	1	3.14963e-33	66	130					T	104715089	G	T	104715089	5	4	390	1	0	0	0	0	0	0	1	0	9624	956	33	4	578	4	MLL5	7	104715089	Splice_Site	SNP	G	TCGA-ET-A3DR-01A-11D-A19J-08		104715089	54423574	8	8089											
APBA1	320	broad.mit.edu	37	chr9	72082746	72082746	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatgtcctcaccttgatcCtgcttacggcttcctgggcc	9	15	1	2			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr9:72082746C>T	ENST00000265381.4	-	5	1697	c.1475G>A	c.(1474-1476)aGg>aAg	p.R492K	APBA1_ENST00000470082.1_5'UTR	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	492	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CACCTTGATCCTGCTTACGGC	0.527																																						ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(1474-1476)aGg>aAg		amyloid beta (A4) precursor protein-binding, family A, member 1							163	137	146					9																	72082746		2203	4300	6503	SO:0001583	missense	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72082746C>T	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1475G>A	9.37:g.72082746C>T	ENSP00000265381:p.Arg492Lys					APBA1_ENST00000470082.1_5'UTR	p.R492K	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			5	1697	-			492			PID.		O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	c.1475G>A	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261089	0.80246	.	.	ENSG00000107282	ENST00000265381	T	0.56103	0.48	5.87	5.87	0.94306	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.094572	0.64402	D	0.000002	T	0.58177	0.2104	L	0.39633	1.23	0.80722	D	1	P	0.47762	0.9	P	0.49799	0.622	T	0.58808	-0.7571	10	0.66056	D	0.02	-17.4655	20.2707	0.98476	0.0:1.0:0.0:0.0	.	492	Q02410	APBA1_HUMAN	K	492	ENSP00000265381:R492K	ENSP00000265381:R492K	R	-	2	0	APBA1	71272566	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.882000	0.63121	2.792000	0.96026	0.650000	0.86243	AGG		0.527	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		8	235	0	0	0	1	0	8	235					T	72082746	C	T	72082746	3	4	390	1	0	0	0	0	1	0	0	0	756	681	24	2	1074	2	APBA1	9	72082746	Missense_Mutation	SNP	C	TCGA-ET-A3DR-01A-11D-A19J-08		72082746	69130685	9	8090											
PRKG1	5592	broad.mit.edu	37	chr10	54011361	54011361	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aagcggctttcttcgccaacCtgaagctgtctgatttcaac	8	12	3	2			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr10:54011361C>G	ENST00000401604.2	+	10	1257	c.1063C>G	c.(1063-1065)Ctg>Gtg	p.L355V	PRKG1_ENST00000373975.2_Missense_Mutation_p.L73V|PRKG1_ENST00000373985.1_Missense_Mutation_p.L343V|PRKG1_ENST00000373980.4_Missense_Mutation_p.L370V|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1-AS1_ENST00000452247.2_RNA			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	355					actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CTTCGCCAACCTGAAGCTGTC	0.413																																						ENST00000373980.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53						c.(1108-1110)Ctg>Gtg		protein kinase, cGMP-dependent, type I							156	143	147					10																	54011361		2203	4300	6503	SO:0001583	missense	5592				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr10:54011361C>G		CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.1063C>G	10.37:g.54011361C>G	ENSP00000384200:p.Leu355Val					PRKG1_ENST00000401604.2_Missense_Mutation_p.L355V|PRKG1_ENST00000373985.1_Missense_Mutation_p.L343V|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373975.2_Missense_Mutation_p.L73V	p.L370V	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)	10	1525	+		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)	355			Protein kinase.		A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	ENST00000401604.2	37	c.1108C>G	CCDS44399.1	.	.	.	.	.	.	.	.	.	.	C	6.621	0.482996	0.12581	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000332193	T;T;T	0.08102	3.13;3.13;3.13	6.14	4.09	0.47781	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000001	T	0.03739	0.0106	N	0.08118	0	0.58432	D	0.999996	B;B;B	0.25441	0.009;0.005;0.126	B;B;B	0.21917	0.008;0.033;0.037	T	0.30179	-0.9987	10	0.05721	T	0.95	-9.4954	11.0403	0.47827	0.0:0.8293:0.0:0.1707	.	73;370;355	B3KSF3;Q13976-2;Q13976	.;.;KGP1_HUMAN	V	355;343;370;73	ENSP00000384200:L355V;ENSP00000363097:L343V;ENSP00000363092:L370V	ENSP00000327642:L73V	L	+	1	2	PRKG1	53681367	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.638000	0.54332	0.741000	0.32674	0.637000	0.83480	CTG		0.413	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				27	90	0	0	0	1	0	27	90					G	54011361	C	G	54011361	3	3	390	1	0	0	0	0	1	0	0	0	12522	680	24	4	1416	4	PRKG1	10	54011361	Missense_Mutation	SNP	C	TCGA-ET-A3DR-01A-11D-A19J-08		54011361	81523386	10	8091											
SLC25A45	283130	broad.mit.edu	37	chr11	65147382	65147382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgcaatcaacgatgccccGgtaggtggtctgggtctgca	13	11	3	0	rs377005228		TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr11:65147382G>A	ENST00000527174.1	-	3	164	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	SLC25A45_ENST00000294187.6_5'UTR|SLC25A45_ENST00000534028.1_Intron|SLC25A45_ENST00000377152.2_5'UTR|SLC25A45_ENST00000526432.1_Missense_Mutation_p.R37W|SLC25A45_ENST00000417511.2_5'UTR|SLC25A45_ENST00000398802.1_Missense_Mutation_p.R37W|SLC25A45_ENST00000360662.3_Intron			Q8N413	S2545_HUMAN	solute carrier family 25, member 45	37					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						ACGATGCCCCGGTAGGTGGTC	0.627																																						ENST00000398802.1																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						c.(109-111)Cgg>Tgg		solute carrier family 25, member 45		G	,TRP/ARG	0,4102		0,0,2051	61	68	66		,109	4.4	1.0	11		66	3,8393		0,3,4195	no	utr-5,missense	SLC25A45	NM_001077241.1,NM_182556.2	,101	0,3,6246	AA,AG,GG		0.0357,0.0,0.024	,probably-damaging	,37/289	65147382	3,12495	2051	4198	6249	SO:0001583	missense	283130				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr11:65147382G>A	BC041100	CCDS41670.1, CCDS41671.1, CCDS60850.1	11q13.1	2013-05-22			ENSG00000162241	ENSG00000162241		"Solute carriers"	27442	protein-coding gene	gene with protein product		610825				16949250	Standard	XM_006718507		Approved		uc001odr.1	Q8N413	OTTHUMG00000166255	ENST00000527174.1:c.109C>T	11.37:g.65147382G>A	ENSP00000435489:p.Arg37Trp					SLC25A45_ENST00000417511.2_5'UTR|SLC25A45_ENST00000294187.6_5'UTR|SLC25A45_ENST00000527174.1_Missense_Mutation_p.R37W|SLC25A45_ENST00000360662.3_Intron|SLC25A45_ENST00000534028.1_Intron|SLC25A45_ENST00000377152.2_5'UTR|SLC25A45_ENST00000526432.1_Missense_Mutation_p.R37W	p.R37W	NM_182556.2	NP_872362.2	Q8N413	S2545_HUMAN			4	312	-			37					Q6PL49|Q8IW29	Missense_Mutation	SNP	ENST00000527174.1	37	c.109C>T	CCDS41670.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896045	0.72639	0.0	3.57E-4	ENSG00000162241	ENST00000527174;ENST00000398802;ENST00000526432;ENST00000530936	T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32	4.38	4.38	0.52667	Mitochondrial carrier domain (2);	.	.	.	.	D	0.88687	0.6504	M	0.89904	3.07	0.80722	D	1	D;D	0.67145	0.996;0.995	P;P	0.55303	0.761;0.773	D	0.91161	0.4961	9	0.66056	D	0.02	.	14.4776	0.67557	0.0:0.0:1.0:0.0	.	37;37	E9PJQ3;Q8N413	.;S2545_HUMAN	W	37	ENSP00000435489:R37W;ENSP00000381782:R37W;ENSP00000435547:R37W;ENSP00000431642:R37W	ENSP00000381782:R37W	R	-	1	2	SLC25A45	64903958	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	5.116000	0.64661	2.251000	0.74343	0.561000	0.74099	CGG		0.627	SLC25A45-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388744.3	NM_182556		24	58	0	0	0	1	0	24	58					A	65147382	G	A	65147382	3	1	390	1	0	0	0	0	1	0	0	0	14510	1115	39	1	773	1	SLC25A45	11	65147382	Missense_Mutation	SNP	G	TCGA-ET-A3DR-01A-11D-A19J-08		65147382	69859134	11	8092											
XPO4	64328	broad.mit.edu	37	chr13	21374986	21374986	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacctgatcatacagttttTcatccaccaggagataagtc	7	10	2	3			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr13:21374986T>C	ENST00000255305.6	-	14	2032	c.1961A>G	c.(1960-1962)gAa>gGa	p.E654G	XPO4_ENST00000400602.2_Missense_Mutation_p.E654G			Q9C0E2	XPO4_HUMAN	exportin 4	654					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		ATACAGTTTTTCATCCACCAG	0.368																																						ENST00000400602.2																			0				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41						c.(1960-1962)gAa>gGa		exportin 4							162	153	156					13																	21374986		1823	4083	5906	SO:0001583	missense	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21374986T>C	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"Exportins"	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.1961A>G	13.37:g.21374986T>C	ENSP00000255305:p.Glu654Gly					XPO4_ENST00000255305.6_Missense_Mutation_p.E654G	p.E654G	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	14	1996	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	654					Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	ENST00000255305.6	37	c.1961A>G	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.198152	0.79015	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.51817	0.69;0.69	5.65	4.48	0.54585	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62889	0.2465	M	0.72894	2.215	0.80722	D	1	D	0.63880	0.993	D	0.66351	0.943	T	0.60611	-0.7229	10	0.31617	T	0.26	-13.8781	11.405	0.49892	0.0:0.0706:0.0:0.9294	.	654	Q9C0E2	XPO4_HUMAN	G	654;524;654	ENSP00000383444:E654G;ENSP00000255305:E654G	ENSP00000255305:E654G	E	-	2	0	XPO4	20272986	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.608000	0.82898	0.981000	0.38548	0.533000	0.62120	GAA		0.368	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		21	293	0	0	0	1	0	21	293					C	21374986	T	C	21374986	3	2	390	1	0	0	0	0	1	0	0	0	17443	1783	62	3	1534	3	XPO4	13	21374986	Missense_Mutation	SNP	T	TCGA-ET-A3DR-01A-11D-A19J-08		21374986	93794892	12	8093											
B3GALTL	145173	broad.mit.edu	37	chr13	31848757	31848757	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccacattccattcttttctaCcgctttgtgtgagtaacaga	6	11	2	2			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr13:31848757C>A	ENST00000343307.4	+	9	921	c.772C>A	c.(772-774)Ccg>Acg	p.P258T	B3GALTL_ENST00000461652.2_3'UTR	NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	258					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)		TTCTTTTCTACCGCTTTGTGT	0.413																																						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.(772-774)Ccg>Acg		beta 1,3-galactosyltransferase-like							139	126	130					13																	31848757		2203	4300	6503	SO:0001583	missense	145173				fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr13:31848757C>A	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.772C>A	13.37:g.31848757C>A	ENSP00000343002:p.Pro258Thr					B3GALTL_ENST00000461652.2_3'UTR	p.P258T	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)	9	921	+		Lung SC(185;0.0257)	258					A8K5F8|Q5W0H2|Q6NUI3	Missense_Mutation	SNP	ENST00000343307.4	37	c.772C>A	CCDS9341.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.677723	0.47886	.	.	ENSG00000187676	ENST00000343307	T	0.73047	-0.71	5.62	5.62	0.85841	.	0.111142	0.64402	D	0.000008	T	0.79787	0.4506	M	0.73598	2.24	0.80722	D	1	D	0.65815	0.995	P	0.54664	0.758	T	0.79198	-0.1902	10	0.38643	T	0.18	-14.6557	16.5692	0.84607	0.0:1.0:0.0:0.0	.	258	Q6Y288	B3GLT_HUMAN	T	258	ENSP00000343002:P258T	ENSP00000343002:P258T	P	+	1	0	B3GALTL	30746757	0.952000	0.32445	0.160000	0.22671	0.323000	0.28346	4.362000	0.59467	2.635000	0.89317	0.655000	0.94253	CCG		0.413	B3GALTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044396.3	NM_194318		5	131	1	0	1.024e-07	1	1.024e-07	5	131					A	31848757	C	A	31848757	3	1	390	1	0	0	0	0	1	0	0	0	1252	507	18	4	806	4	B3GALTL	13	31848757	Missense_Mutation	SNP	C	TCGA-ET-A3DR-01A-11D-A19J-08	10473771	31848757	83321121	13	8094											
DCAKD	79877	broad.mit.edu	37	chr17	43101857	43101857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaggctggcaatggcagCgagccctgtgaggaccccaa	16	11	0	1	rs146466512	byFrequency	TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr17:43101857C>T	ENST00000452796.2	-	4	895	c.640G>A	c.(640-642)Gct>Act	p.A214T	DCAKD_ENST00000588499.1_Missense_Mutation_p.A214T|DCAKD_ENST00000342350.5_Missense_Mutation_p.A214T			Q8WVC6	DCAKD_HUMAN	dephospho-CoA kinase domain containing	214					coenzyme A biosynthetic process (GO:0015937)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6		Prostate(33;0.155)				GCAATGGCAGCGAGCCCTGTG	0.617																																						ENST00000452796.2																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6						c.(640-642)Gct>Act		dephospho-CoA kinase domain containing		C	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	67	60	63		640,640	3.8	0.5	17	dbSNP_134	63	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	DCAKD	NM_001128631.1,NM_024819.4	58,58	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	benign,benign	214/232,214/232	43101857	5,13001	2203	4300	6503	SO:0001583	missense	79877				coenzyme A biosynthetic process		ATP binding|dephospho-CoA kinase activity	g.chr17:43101857C>T	BC006546	CCDS11493.1	17q21.31	2005-12-20				ENSG00000172992			26238	protein-coding gene	gene with protein product							Standard	XM_005257688		Approved	FLJ22955	uc010daa.1	Q8WVC6		ENST00000452796.2:c.640G>A	17.37:g.43101857C>T	ENSP00000413483:p.Ala214Thr					DCAKD_ENST00000588499.1_Missense_Mutation_p.A214T|DCAKD_ENST00000342350.5_Missense_Mutation_p.A214T	p.A214T			Q8WVC6	DCAKD_HUMAN			4	895	-		Prostate(33;0.155)	214					A8K3Z0|D3DX60|D3DX62|Q9BR71|Q9H5W1	Missense_Mutation	SNP	ENST00000452796.2	37	c.640G>A	CCDS11493.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.881456	0.33255	2.27E-4	4.65E-4	ENSG00000172992	ENST00000342350;ENST00000452796	T;T	0.45668	0.89;0.89	4.76	3.77	0.43336	.	0.320112	0.38272	N	0.001753	T	0.30759	0.0775	L	0.38838	1.175	0.58432	D	0.999996	B	0.24721	0.11	B	0.13407	0.009	T	0.07731	-1.0757	10	0.21540	T	0.41	-6.0918	13.5037	0.61471	0.0:0.9227:0.0:0.0773	.	214	Q8WVC6	DCAKD_HUMAN	T	214	ENSP00000341504:A214T;ENSP00000413483:A214T	ENSP00000341504:A214T	A	-	1	0	DCAKD	40457383	0.012000	0.17670	0.529000	0.27951	0.836000	0.47400	2.154000	0.42291	2.472000	0.83506	0.542000	0.68232	GCT		0.617	DCAKD-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449066.1	NM_024819		23	77	0	0	0	1	0	23	77					T	43101857	C	T	43101857	3	4	390	1	0	0	0	0	1	0	0	0	4279	768	27	1	59	1	DCAKD	17	43101857	Missense_Mutation	SNP	C	TCGA-ET-A3DR-01A-11D-A19J-08		43101857	38093353	14	8095											
B4GALNT2	124872	broad.mit.edu	37	chr17	47247083	47247083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagaaccatctccaatgtgCcgcataaaggtgtgagggca	11	10	1	2			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr17:47247083C>T	ENST00000300404.2	+	11	1753	c.1694C>T	c.(1693-1695)gCc>gTc	p.A565V	RP11-708H21.4_ENST00000575159.1_lincRNA|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.A479V|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.A505V	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	565					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CTCCAATGTGCCGCATAAAGG	0.512																																					GBM(124;244 1635 8663 18097 33175)	ENST00000300404.2																			0				endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1693-1695)gCc>gTc		beta-1,4-N-acetyl-galactosaminyl transferase 2							64	52	56					17																	47247083		2203	4300	6503	SO:0001583	missense	124872				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity	g.chr17:47247083C>T	AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"Beta 4-glycosyltransferases", "Glycosyltransferase family 2 domain containing"	24136	protein-coding gene	gene with protein product		111730	"UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.1694C>T	17.37:g.47247083C>T	ENSP00000300404:p.Ala565Val					B4GALNT2_ENST00000504681.1_Missense_Mutation_p.A479V|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.A505V	p.A565V	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	all cancers(6;0.000316)		11	1753	+			565					B4DZE4|Q14CP1|Q86Y40	Missense_Mutation	SNP	ENST00000300404.2	37	c.1694C>T	CCDS11544.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.166068	0.38217	.	.	ENSG00000167080	ENST00000504681;ENST00000393354;ENST00000300404	T;T;T	0.21191	2.02;2.02;2.32	5.79	-0.177	0.13307	.	1.098330	0.06882	N	0.802683	T	0.08268	0.0206	N	0.08118	0	0.09310	N	1	B;B	0.23442	0.082;0.085	B;B	0.21917	0.037;0.016	T	0.37407	-0.9707	10	0.17832	T	0.49	-1.9854	0.7377	0.00968	0.1723:0.3494:0.1469:0.3313	.	505;565	Q8NHY0-2;Q8NHY0	.;B4GN2_HUMAN	V	479;505;565	ENSP00000425510:A479V;ENSP00000377022:A505V;ENSP00000300404:A565V	ENSP00000300404:A565V	A	+	2	0	B4GALNT2	44602082	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.708000	0.25719	0.351000	0.24027	0.561000	0.74099	GCC		0.512	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1	NM_153446		4	56	0	0	0	1	0	4	56					T	47247083	C	T	47247083	3	4	390	1	0	0	0	0	1	0	0	0	1267	739	26	2	1754	2	B4GALNT2	17	47247083	Missense_Mutation	SNP	C	TCGA-ET-A3DR-01A-11D-A19J-08	4145226	47247083	33948127	15	8096											
KIAA0195	9772	broad.mit.edu	37	chr17	73489653	73489653	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgggacggagctgacatctAccctctctcgggatctgaca	11	13	3	2			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr17:73489653A>G	ENST00000314256.7	+	17	2562	c.2168A>G	c.(2167-2169)tAc>tGc	p.Y723C	KIAA0195_ENST00000579208.1_Missense_Mutation_p.Y374C|KIAA0195_ENST00000375248.5_Missense_Mutation_p.Y733C	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	723						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTGACATCTACCCTCTCTCG	0.602																																						ENST00000314256.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42						c.(2167-2169)tAc>tGc		KIAA0195							107	100	102					17																	73489653		2203	4300	6503	SO:0001583	missense	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73489653A>G		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.2168A>G	17.37:g.73489653A>G	ENSP00000313885:p.Tyr723Cys					KIAA0195_ENST00000375248.5_Missense_Mutation_p.Y733C|KIAA0195_ENST00000579208.1_Missense_Mutation_p.Y374C	p.Y723C	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		17	2562	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		723					O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	37	c.2168A>G	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	A	14.90	2.672762	0.47781	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.82526	-1.62;-1.62	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.85504	0.5712	N	0.25890	0.77	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.995;0.998;0.995	D	0.85475	0.1175	10	0.38643	T	0.18	-36.7903	15.576	0.76387	1.0:0.0:0.0:0.0	.	733;733;723	B4DGC6;C9JL75;Q12767	.;.;K0195_HUMAN	C	723;733	ENSP00000313885:Y723C;ENSP00000364397:Y733C	ENSP00000313885:Y723C	Y	+	2	0	KIAA0195	71001248	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.236000	0.95360	2.085000	0.62840	0.459000	0.35465	TAC		0.602	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		44	72	0	0	0	1	0	44	72					G	73489653	A	G	73489653	3	3	390	1	0	0	0	0	1	0	0	0	8160	391	14	3	2230	3	KIAA0195	17	73489653	Missense_Mutation	SNP	A	TCGA-ET-A3DR-01A-11D-A19J-08	26242570	73489653	7705557	16	8097											
KLHL4	56062	broad.mit.edu	37	chrX	86919891	86919891	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgacggacatacttatttgAacacagttgagtcatatgat	8	6	1	4			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chrX:86919891A>G	ENST00000373119.4	+	10	2198	c.2053A>G	c.(2053-2055)Aac>Gac	p.N685D	KLHL4_ENST00000373114.4_Missense_Mutation_p.N685D	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	685						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TACTTATTTGAACACAGTTGA	0.378																																						ENST00000373119.4																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						c.(2053-2055)Aac>Gac		kelch-like family member 4							157	109	125					X																	86919891		2203	4300	6503	SO:0001583	missense	0					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86919891A>G	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"Kelch-like", "BTB/POZ domain containing"	6355	protein-coding gene	gene with protein product		300348	"kelch (Drosophila)-like 4", "kelch-like 4 (Drosophila)"			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.2053A>G	X.37:g.86919891A>G	ENSP00000362211:p.Asn685Asp					KLHL4_ENST00000373114.4_Missense_Mutation_p.N685D	p.N685D	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN			10	2198	+			685					B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.2053A>G	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	A	14.08	2.428629	0.43122	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.79554	-1.28;-1.28	3.95	3.95	0.45737	Galactose oxidase, beta-propeller (1);	0.344414	0.35525	N	0.003143	T	0.66127	0.2758	N	0.25094	0.71	0.35606	D	0.808276	B;B	0.20164	0.012;0.042	B;B	0.26770	0.073;0.03	T	0.64850	-0.6310	10	0.29301	T	0.29	.	6.8404	0.23959	0.884:0.0:0.116:0.0	.	685;685	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	D	685	ENSP00000362211:N685D;ENSP00000362206:N685D	ENSP00000362206:N685D	N	+	1	0	KLHL4	86806547	1.000000	0.71417	0.809000	0.32408	0.858000	0.48976	4.881000	0.63114	1.559000	0.49555	0.339000	0.21740	AAC		0.378	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			36	42	0	0	0	1	0	36	42					G	86919891	A	G	86919891	3	3	390	1	0	0	0	0	1	0	0	0	8391	246	9	3	2091	3	KLHL4	23	86919891	Missense_Mutation	SNP	A	TCGA-ET-A3DR-01A-11D-A19J-08		86919891	68350669	17	8098											
GOLGB1	2804	broad.mit.edu	37	chr3	121415620	121415620	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgcttgggagttttccGtctatggattcccttacttg	10	9	2	0			TCGA-ET-A3DS-01A-11D-A19J-08	TCGA-ET-A3DS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02fad9d-940c-45dc-829b-39c38d2f6f76	0ed6611d-ccc7-4403-a1b0-6e56cd147e8f	g.chr3:121415620G>A	ENST00000340645.5	-	13	3860	c.3735C>T	c.(3733-3735)gaC>gaT	p.D1245D	GOLGB1_ENST00000393667.3_Silent_p.D1250D	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1245					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.D1245D(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GGAGTTTTCCGTCTATGGATT	0.438																																						ENST00000393667.3																			1	Substitution - coding silent(1)	p.D1245D(1)	central_nervous_system(1)	NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(3748-3750)gaC>gaT		golgin B1							204	184	191					3																	121415620		2203	4300	6503	SO:0001819	synonymous_variant	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121415620G>A	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.3735C>T	3.37:g.121415620G>A						GOLGB1_ENST00000340645.5_Silent_p.D1245D	p.D1250D	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	3860	-			1245					B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	ENST00000340645.5	37	c.3750C>T	CCDS3004.1																																																																																				0.438	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		21	72	0	0	0	0.592651	0	21	72					A	121415620	G	A	121415620	2	1	391	1	0	0	0	0	0	0	0	1	6565	1136	40	1		1	GOLGB1	3	121415620	Silent	SNP	G	TCGA-ET-A3DS-01A-11D-A19J-08		121415620	76606810	1	8099											
C5orf42	65250	broad.mit.edu	37	chr5	37176053	37176053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacttgcattgattgaggaGtggtatgcccaggatgtgaa	13	6	0	3			TCGA-ET-A3DS-01A-11D-A19J-08	TCGA-ET-A3DS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02fad9d-940c-45dc-829b-39c38d2f6f76	0ed6611d-ccc7-4403-a1b0-6e56cd147e8f	g.chr5:37176053G>A	ENST00000508244.1	-	30	6029	c.5936C>T	c.(5935-5937)aCt>aTt	p.T1979I	C5orf42_ENST00000425232.2_Missense_Mutation_p.T1979I|C5orf42_ENST00000274258.7_Missense_Mutation_p.T859I			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1979						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGATTGAGGAGTGGTATGCCC	0.333																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(2575-2577)aCt>aTt		chromosome 5 open reading frame 42							207	220	216					5																	37176053		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37176053G>A		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.5936C>T	5.37:g.37176053G>A	ENSP00000421690:p.Thr1979Ile					C5orf42_ENST00000508244.1_Missense_Mutation_p.T1979I|C5orf42_ENST00000425232.2_Missense_Mutation_p.T1979I	p.T859I			E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		31	6163	-	all_lung(31;0.000616)		1979					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.2576C>T	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	G	0.764	-0.768349	0.02974	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.20463	2.07;2.07;2.08;2.07	5.25	-1.26	0.09376	.	1.673320	0.03314	N	0.190925	T	0.13030	0.0316	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.28396	-1.0045	10	0.09338	T	0.73	.	9.2095	0.37309	0.6025:0.0:0.3975:0.0	.	1979;859	E9PH94;Q9H799	.;CE042_HUMAN	I	1979;1979;859;1027;859	ENSP00000421690:T1979I;ENSP00000389014:T1979I;ENSP00000274258:T859I;ENSP00000424223:T1027I	ENSP00000274258:T859I	T	-	2	0	C5orf42	37211810	0.065000	0.20965	0.000000	0.03702	0.144000	0.21451	0.471000	0.22100	-0.362000	0.08113	-0.150000	0.13652	ACT		0.333	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		8	159	0	0	0	0.27861	0	8	159					A	37176053	G	A	37176053	3	1	391	1	0	0	0	0	1	0	0	0	2301	1029	36	2	3745	2	C5orf42	5	37176053	Missense_Mutation	SNP	G	TCGA-ET-A3DS-01A-11D-A19J-08		37176053	143739207	2	8100											
LRSAM1	90678	broad.mit.edu	37	chr9	130224635	130224635	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gattgccgcagatgctggctCacgttcgaaccctggaggta	13	11	1	1			TCGA-ET-A3DS-01A-11D-A19J-08	TCGA-ET-A3DS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02fad9d-940c-45dc-829b-39c38d2f6f76	0ed6611d-ccc7-4403-a1b0-6e56cd147e8f	g.chr9:130224635C>T	ENST00000323301.4	+	8	1115	c.511C>T	c.(511-513)Cac>Tac	p.H171Y	LRSAM1_ENST00000373322.1_Missense_Mutation_p.H171Y|LRSAM1_ENST00000373324.4_Missense_Mutation_p.H171Y|LRSAM1_ENST00000300417.6_Missense_Mutation_p.H171Y	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	171					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						GATGCTGGCTCACGTTCGAAC	0.577																																						ENST00000323301.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						c.(511-513)Cac>Tac		leucine rich repeat and sterile alpha motif containing 1							159	127	138					9																	130224635		2203	4300	6503	SO:0001583	missense	90678				negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:130224635C>T	AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"Sterile alpha motif (SAM) domain containing"	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.511C>T	9.37:g.130224635C>T	ENSP00000322937:p.His171Tyr					LRSAM1_ENST00000373324.4_Missense_Mutation_p.H171Y|LRSAM1_ENST00000300417.6_Missense_Mutation_p.H171Y|LRSAM1_ENST00000373322.1_Missense_Mutation_p.H171Y	p.H171Y	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN			8	1115	+			171					Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Missense_Mutation	SNP	ENST00000323301.4	37	c.511C>T	CCDS6873.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.665309	0.47677	.	.	ENSG00000148356	ENST00000300417;ENST00000373324;ENST00000323301;ENST00000373322	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.75	5.75	0.90469	.	0.221750	0.46758	D	0.000264	T	0.49558	0.1564	N	0.13043	0.29	0.41182	D	0.986245	D;D	0.69078	0.992;0.997	P;D	0.79108	0.811;0.992	T	0.40021	-0.9585	10	0.15499	T	0.54	-21.0994	15.4523	0.75282	0.0:1.0:0.0:0.0	.	171;171	Q6UWE0-2;Q6UWE0	.;LRSM1_HUMAN	Y	171	ENSP00000300417:H171Y;ENSP00000362421:H171Y;ENSP00000322937:H171Y;ENSP00000362419:H171Y	ENSP00000300417:H171Y	H	+	1	0	LRSAM1	129264456	0.956000	0.32656	0.702000	0.30337	0.997000	0.91878	2.438000	0.44837	2.725000	0.93324	0.655000	0.94253	CAC		0.577	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054164.1	NM_138361		14	52	0	0	0	0.457914	0	14	52					T	130224635	C	T	130224635	3	4	391	1	0	0	0	0	1	0	0	0	9043	826	29	2	537	2	LRSAM1	9	130224635	Missense_Mutation	SNP	C	TCGA-ET-A3DS-01A-11D-A19J-08		130224635	10988796	3	8101											
BTAF1	9044	broad.mit.edu	37	chr10	93748982	93748982	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgttacaacagttagatagTaaacgacagcaggtccaaat	9	7	0	1			TCGA-ET-A3DS-01A-11D-A19J-08	TCGA-ET-A3DS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02fad9d-940c-45dc-829b-39c38d2f6f76	0ed6611d-ccc7-4403-a1b0-6e56cd147e8f	g.chr10:93748982T>C	ENST00000265990.6	+	20	2807	c.2499T>C	c.(2497-2499)agT>agC	p.S833S	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	833					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				AGTTAGATAGTAAACGACAGC	0.378																																						ENST00000265990.6																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.(2497-2499)agT>agC		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							77	75	76					10																	93748982		2203	4300	6503	SO:0001819	synonymous_variant	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93748982T>C	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"Mot1 homolog (S. cerevisiae)"	605191	"BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.2499T>C	10.37:g.93748982T>C						BTAF1_ENST00000471217.1_3'UTR	p.S833S	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN			20	2807	+		Colorectal(252;0.0846)	833					B4E0W6|O43578	Silent	SNP	ENST00000265990.6	37	c.2499T>C	CCDS7419.1																																																																																				0.378	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		23	44	0	0	0	0.639603	0	23	44					C	93748982	T	C	93748982	2	2	391	1	0	0	0	0	0	0	0	1	1536	1635	57	3		3	BTAF1	10	93748982	Silent	SNP	T	TCGA-ET-A3DS-01A-11D-A19J-08		93748982	41785765	4	8102											
QSER1	79832	broad.mit.edu	37	chr11	32953853	32953853	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatctatcaaattcaagtgTagttaattttcaggaaacaa	5	5	4	0			TCGA-ET-A3DS-01A-11D-A19J-08	TCGA-ET-A3DS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02fad9d-940c-45dc-829b-39c38d2f6f76	0ed6611d-ccc7-4403-a1b0-6e56cd147e8f	g.chr11:32953853T>G	ENST00000399302.2	+	4	997	c.662T>G	c.(661-663)gTa>gGa	p.V221G	QSER1_ENST00000527788.1_Missense_Mutation_p.V221G	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	221	Ser-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					AATTCAAGTGTAGTTAATTTT	0.438																																						ENST00000399302.2																			0				breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48						c.(661-663)gTa>gGa		glutamine and serine rich 1							61	57	58					11																	32953853		1882	4100	5982	SO:0001583	missense	79832							g.chr11:32953853T>G	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.662T>G	11.37:g.32953853T>G	ENSP00000382241:p.Val221Gly					QSER1_ENST00000527788.1_Missense_Mutation_p.V221G	p.V221G	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN			4	997	+	Breast(20;0.158)		221			Ser-rich.		Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	c.662T>G	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	T	11.97	1.798916	0.31777	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	T;T	0.23552	2.28;1.9	4.98	3.83	0.44106	.	0.499077	0.17421	N	0.174833	T	0.12732	0.0309	N	0.04880	-0.145	0.27417	N	0.954405	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.19943	-1.0290	10	0.23302	T	0.38	.	11.87	0.52515	0.0:0.0:0.468:0.532	.	221;221	Q2KHR3-2;Q2KHR3	.;QSER1_HUMAN	G	221	ENSP00000382241:V221G;ENSP00000432766:V221G	ENSP00000078652:V221G	V	+	2	0	QSER1	32910429	1.000000	0.71417	0.968000	0.41197	0.944000	0.59088	2.934000	0.48956	0.830000	0.34757	0.533000	0.62120	GTA		0.438	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		9	37	0	0	0	0.307466	0	9	37					G	32953853	T	G	32953853	3	3	391	1	0	0	0	0	1	0	0	0	12882	1638	57	5	668	5	QSER1	11	32953853	Missense_Mutation	SNP	T	TCGA-ET-A3DS-01A-11D-A19J-08		32953853	102052663	5	8103											
CCDC62	84660	broad.mit.edu	37	chr12	123276650	123276650	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aagagaaaagttgcctgcacGatgaattgctttttactggt	10	6	0	2	rs375333901		TCGA-ET-A3DS-01A-11D-A19J-08	TCGA-ET-A3DS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02fad9d-940c-45dc-829b-39c38d2f6f76	0ed6611d-ccc7-4403-a1b0-6e56cd147e8f	g.chr12:123276650G>T	ENST00000253079.6	+	6	1098	c.754G>T	c.(754-756)Gat>Tat	p.D252Y	CCDC62_ENST00000392440.2_Intron|CCDC62_ENST00000537566.1_Intron|CCDC62_ENST00000392441.4_Missense_Mutation_p.D252Y	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	252					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.D252N(2)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		TTGCCTGCACGATGAATTGCT	0.393																																						ENST00000253079.6																			2	Substitution - Missense(2)	p.D252N(2)	lung(2)	breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20						c.(754-756)Gat>Tat		coiled-coil domain containing 62							103	99	100					12																	123276650		2203	4300	6503	SO:0001583	missense	84660					cytoplasm|nucleus		g.chr12:123276650G>T		CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"cancer/testis antigen 109"	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.754G>T	12.37:g.123276650G>T	ENSP00000253079:p.Asp252Tyr					CCDC62_ENST00000392440.2_Intron|CCDC62_ENST00000392441.4_Missense_Mutation_p.D252Y|CCDC62_ENST00000537566.1_Intron	p.D252Y	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)	6	1098	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		252					A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Missense_Mutation	SNP	ENST00000253079.6	37	c.754G>T	CCDS9238.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.608830	0.66558	.	.	ENSG00000130783	ENST00000253079;ENST00000392441	T;T	0.34472	1.37;1.36	5.11	5.11	0.69529	.	0.220251	0.33792	N	0.004556	T	0.57066	0.2028	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	T	0.59225	-0.7494	10	0.72032	D	0.01	-23.1263	14.4063	0.67083	0.0:0.0:1.0:0.0	.	252;252	Q6P9F0-2;Q6P9F0	.;CCD62_HUMAN	Y	252	ENSP00000253079:D252Y;ENSP00000376236:D252Y	ENSP00000253079:D252Y	D	+	1	0	CCDC62	121842603	0.998000	0.40836	0.850000	0.33497	0.971000	0.66376	3.653000	0.54446	2.529000	0.85273	0.585000	0.79938	GAT		0.393	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400930.1	NM_032573		17	85	1	0	7.05477e-17	0.520397	7.78457e-17	17	85					T	123276650	G	T	123276650	3	4	391	1	0	0	0	0	1	0	0	0	2833	1058	37	4	776	4	CCDC62	12	123276650	Missense_Mutation	SNP	G	TCGA-ET-A3DS-01A-11D-A19J-08		123276650	10575245	6	8104											
HNRNPC	3183	broad.mit.edu	37	chr14	21679622	21679623	+	Frame_Shift_Del	DEL	AG	AG	-													agtaggtccccctcctcagcAgagtcatctgcacccccctc							TCGA-ET-A3DS-01A-11D-A19J-08	TCGA-ET-A3DS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02fad9d-940c-45dc-829b-39c38d2f6f76	0ed6611d-ccc7-4403-a1b0-6e56cd147e8f	g.chr14:21679622_21679623delAG	ENST00000320084.7	-	7	1018_1019	c.779_780delCT	c.(778-780)tctfs	p.S260fs	HNRNPC_ENST00000553753.1_Frame_Shift_Del_p.S247fs|HNRNPC_ENST00000430246.2_Frame_Shift_Del_p.S247fs|HNRNPC_ENST00000556513.1_Intron|HNRNPC_ENST00000554455.1_Frame_Shift_Del_p.S260fs|HNRNPC_ENST00000556142.1_Intron|HNRNPC_ENST00000420743.2_Frame_Shift_Del_p.S260fs|HNRNPC_ENST00000556897.1_Frame_Shift_Del_p.S247fs|HNRNPC_ENST00000557201.1_Frame_Shift_Del_p.S260fs|HNRNPC_ENST00000336053.6_Frame_Shift_Del_p.S247fs|HNRNPC_ENST00000556628.1_Frame_Shift_Del_p.S180fs|HNRNPC_ENST00000554969.1_Frame_Shift_Del_p.S247fs|HNRNPC_ENST00000553300.1_Frame_Shift_Del_p.S247fs|HNRNPC_ENST00000449098.1_Frame_Shift_Del_p.S247fs|HNRNPC_ENST00000555914.1_Frame_Shift_Del_p.S246fs|HNRNPC_ENST00000555883.1_Frame_Shift_Del_p.S204fs|HNRNPC_ENST00000555309.1_Frame_Shift_Del_p.S259fs	NM_001077442.1	NP_001070910.1	P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	260	Asp/Glu-rich (acidic).				3'-UTR-mediated mRNA stabilization (GO:0070935)|ATP-dependent chromatin remodeling (GO:0043044)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|spliceosomal complex (GO:0005681)	identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleosomal DNA binding (GO:0031492)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		CCTCCTCAGCAGAGTCATCTGC	0.51																																					NSCLC(108;607 2244 12726 38757)	ENST00000430246.2																			0				breast(1)|liver(1)|lung(6)|skin(1)	9						c.(739-741)tfs		heterogeneous nuclear ribonucleoprotein C (C1/C2)																																				SO:0001589	frameshift_variant	3183					catalytic step 2 spliceosome|nucleoplasm	identical protein binding|nucleotide binding|RNA binding	g.chr14:21679622_21679623delAG		CCDS41915.1, CCDS45079.1	14q11.2	2013-06-12		2007-08-16	ENSG00000092199	ENSG00000092199		"RNA binding motif (RRM) containing"	5035	protein-coding gene	gene with protein product		164020		HNRPC		3457372	Standard	NM_031314		Approved	hnRNPC	uc001waa.3	P07910	OTTHUMG00000170757	ENST00000320084.7:c.779_780delCT	14.37:g.21679624_21679625delAG	ENSP00000319690:p.Ser260fs					HNRNPC_ENST00000557201.1_Frame_Shift_Del_p.S260fs|HNRNPC_ENST00000449098.1_Frame_Shift_Del_p.S247fs|HNRNPC_ENST00000556897.1_Frame_Shift_Del_p.S247fs|HNRNPC_ENST00000556628.1_Frame_Shift_Del_p.S180fs|HNRNPC_ENST00000556513.1_Intron|HNRNPC_ENST00000556142.1_Intron|HNRNPC_ENST00000555883.1_Frame_Shift_Del_p.S204fs|HNRNPC_ENST00000555914.1_Frame_Shift_Del_p.S246fs|HNRNPC_ENST00000555309.1_Frame_Shift_Del_p.S259fs|HNRNPC_ENST00000553300.1_Frame_Shift_Del_p.S247fs|HNRNPC_ENST00000554455.1_Frame_Shift_Del_p.S260fs|HNRNPC_ENST00000320084.7_Frame_Shift_Del_p.S260fs|HNRNPC_ENST00000554969.1_Frame_Shift_Del_p.S247fs|HNRNPC_ENST00000420743.2_Frame_Shift_Del_p.S260fs|HNRNPC_ENST00000553753.1_Frame_Shift_Del_p.S247fs|HNRNPC_ENST00000336053.6_Frame_Shift_Del_p.S247fs	p.S247fs			P07910	HNRPC_HUMAN	Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)	7	3691_3692	-	all_cancers(95;0.00176)		260			Asp/Glu-rich (acidic).		D3DS19|D3DS22|P22628|Q53EX2|Q59FD3|Q5FWE8|Q86SF8|Q86U45|Q96HK7|Q96HM4|Q96IY5|Q9BTS3	Frame_Shift_Del	DEL	ENST00000320084.7	37	c.740_741delCT	CCDS41915.1																																																																																				0.51	HNRNPC-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410235.1			25	69						25	69	---	---	---	---	-	21679623	AG	-	21679622	7	5	391	1	0	1	0	1	0	0	0	0	7262	175	7	0	148	0	HNRNPC	14	21679622	Frame_Shift_Del	DEL	AG	TCGA-ET-A3DS-01A-11D-A19J-08		21679622	85669918	7	8105											
TSHR	7253	broad.mit.edu	37	chr14	81609809	81609809	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atggggatgtacctgctcctCatcgcctctgtagacctcta	9	13	3	1	rs372224556		TCGA-ET-A3DS-01A-11D-A19J-08	TCGA-ET-A3DS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02fad9d-940c-45dc-829b-39c38d2f6f76	0ed6611d-ccc7-4403-a1b0-6e56cd147e8f	g.chr14:81609809C>A	ENST00000541158.2	+	11	1729	c.1407C>A	c.(1405-1407)ctC>ctA	p.L469L	TSHR_ENST00000298171.2_Silent_p.L469L|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	469					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	ACCTGCTCCTCATCGCCTCTG	0.537			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															ENST00000541158.2			yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism	E		thyroid  adenoma	toxic thyroid adenoma		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337						c.(1405-1407)ctC>ctA		thyroid stimulating hormone receptor	Thyrotropin Alfa(DB00024)						683	525	578					14																	81609809		2203	4300	6503	SO:0001819	synonymous_variant	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81609809C>A	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"GPCR / Class A : Gonadotropin and TSH receptors"	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1407C>A	14.37:g.81609809C>A						TSHR_ENST00000298171.2_Silent_p.L469L|RP11-114N19.3_ENST00000557775.1_RNA	p.L469L			P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	11	1729	+			469					A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Silent	SNP	ENST00000541158.2	37	c.1407C>A	CCDS9872.1																																																																																				0.537	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		42	69	1	0	1.38162e-09	0.840704	1.47373e-09	42	69					A	81609809	C	A	81609809	2	1	391	1	0	0	0	0	0	0	0	1	16619	813	29	4		4	TSHR	14	81609809	Silent	SNP	C	TCGA-ET-A3DS-01A-11D-A19J-08	59930187	81609809	25739731	8	8106											
KCNAB3	9196	broad.mit.edu	37	chr17	7829388	7829388	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtctcacctccaacctttGctcttgaggatgttccctag	7	14	2	1			TCGA-ET-A3DS-01A-11D-A19J-08	TCGA-ET-A3DS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02fad9d-940c-45dc-829b-39c38d2f6f76	0ed6611d-ccc7-4403-a1b0-6e56cd147e8f	g.chr17:7829388G>A	ENST00000303790.2	-	5	437	c.438C>T	c.(436-438)agC>agT	p.S146S	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	146					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)				TCCAACCTTTGCTCTTGAGGA	0.478																																						ENST00000303790.2																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8						c.(436-438)agC>agT		potassium voltage-gated channel, shaker-related subfamily, beta member 3							135	122	126					17																	7829388		2203	4300	6503	SO:0001819	synonymous_variant	9196					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr17:7829388G>A	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.438C>T	17.37:g.7829388G>A						RP11-1099M24.7_ENST00000573621.1_3'UTR	p.S146S	NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN			5	437	-		Prostate(122;0.157)	146					Q4VAW0	Silent	SNP	ENST00000303790.2	37	c.438C>T	CCDS11124.1																																																																																				0.478	KCNAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226974.1	NM_004732		11	118	0	0	0	0.38729	0	11	118					A	7829388	G	A	7829388	2	1	391	1	0	0	0	0	0	0	0	1	8011	1310	46	2		2	KCNAB3	17	7829388	Silent	SNP	G	TCGA-ET-A3DS-01A-11D-A19J-08		7829388	73365822	9	8107											
SYT5	6861	broad.mit.edu	37	chr19	55687427	55687427	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagtcgtcctagctcatgCttgtctgccacctgctgccc	9	16	2	0	rs11668445	byFrequency	TCGA-ET-A3DS-01A-11D-A19J-08	TCGA-ET-A3DS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02fad9d-940c-45dc-829b-39c38d2f6f76	0ed6611d-ccc7-4403-a1b0-6e56cd147e8f	g.chr19:55687427C>T	ENST00000354308.3	-	4	687	c.318G>A	c.(316-318)aaG>aaA	p.K106K	SYT5_ENST00000590851.1_Silent_p.K103K|SYT5_ENST00000537500.1_Silent_p.K106K|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000592935.1_5'Flank	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	106					calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CTAGCTCATGCTTGTCTGCCA	0.602													c|||	17	0.00339457	0.0015	0.0072	5008	,	,		21078	0		0.0089	False		,,,				2504	0.001					ENST00000354308.3																			0				kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(316-318)aaG>aaA		synaptotagmin V		C		8,4398	14.3+/-33.2	0,8,2195	141	136	138		318	3.4	1.0	19	dbSNP_120	138	92,8508	51.5+/-111.7	0,92,4208	no	coding-synonymous	SYT5	NM_003180.2		0,100,6403	TT,TC,CC		1.0698,0.1816,0.7689		106/387	55687427	100,12906	2203	4300	6503	SO:0001819	synonymous_variant	6861				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:55687427C>T	X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"Synaptotagmins"	11513	protein-coding gene	gene with protein product	"synaptotagmin 5"	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.318G>A	19.37:g.55687427C>T						CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000590851.1_Silent_p.K103K|SYT5_ENST00000537500.1_Silent_p.K106K	p.K106K	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	4	687	-			106					B3KWJ8|B7Z300|Q86X72	Silent	SNP	ENST00000354308.3	37	c.318G>A	CCDS12919.1																																																																																				0.602	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	NM_003180		6	126	0	0	0	0.248553	0	6	126					T	55687427	C	T	55687427	2	4	391	1	0	0	0	0	0	0	0	1	15474	796	28	2		2	SYT5	19	55687427	Silent	SNP	C	TCGA-ET-A3DS-01A-11D-A19J-08		55687427	3441556	10	8108											
SH3KBP1	30011	broad.mit.edu	37	chrX	19560130	19560130	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccgcctggctgctggccGcaggctccatctttggtttt	13	14	1	0	rs369126109		TCGA-ET-A3DS-01A-11D-A19J-08	TCGA-ET-A3DS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02fad9d-940c-45dc-829b-39c38d2f6f76	0ed6611d-ccc7-4403-a1b0-6e56cd147e8f	g.chrX:19560130G>A	ENST00000397821.3	-	16	2095	c.1805C>T	c.(1804-1806)gCg>gTg	p.A602V	SH3KBP1_ENST00000379698.4_Missense_Mutation_p.A565V|SH3KBP1_ENST00000541422.1_Missense_Mutation_p.A341V|SH3KBP1_ENST00000379716.1_Missense_Mutation_p.A364V	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	602					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GCTGCTGGCCGCAGGCTCCAT	0.627																																						ENST00000397821.3																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						c.(1804-1806)gCg>gTg		SH3-domain kinase binding protein 1		G	VAL/ALA,VAL/ALA,VAL/ALA	0,3835		0,0,1632,571	79	77	78		1694,1091,1805	-6.8	0.0	X		78	1,6727		0,1,2427,1872	no	missense,missense,missense	SH3KBP1	NM_001024666.2,NM_001184960.1,NM_031892.2	64,64,64	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	benign,benign,benign	565/629,364/428,602/666	19560130	1,10562	2203	4300	6503	SO:0001583	missense	30011				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding	g.chrX:19560130G>A	AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.1805C>T	X.37:g.19560130G>A	ENSP00000380921:p.Ala602Val					SH3KBP1_ENST00000541422.1_Missense_Mutation_p.A341V|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.A565V|SH3KBP1_ENST00000379716.1_Missense_Mutation_p.A364V	p.A602V	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN			16	2095	-			602					B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Missense_Mutation	SNP	ENST00000397821.3	37	c.1805C>T	CCDS14193.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.024828	0.35701	0.0	1.49E-4	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000379716;ENST00000379698;ENST00000541422;ENST00000379726	T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41	5.54	-6.8	0.01709	.	2.813160	0.00921	N	0.002593	T	0.24699	0.0599	L	0.36672	1.1	0.09310	N	1	B;B;B	0.33073	0.226;0.396;0.396	B;B;B	0.25614	0.041;0.038;0.062	T	0.10636	-1.0621	10	0.30078	T	0.28	3.0863	17.2325	0.86988	0.8718:0.0:0.1282:0.0	.	364;602;565	Q5JPT4;Q96B97;Q5JPT5	.;SH3K1_HUMAN;.	V	587;602;364;565;341;582	ENSP00000380921:A602V;ENSP00000369039:A364V;ENSP00000369020:A565V;ENSP00000442499:A341V;ENSP00000369049:A582V	ENSP00000369020:A565V	A	-	2	0	SH3KBP1	19470051	0.000000	0.05858	0.005000	0.12908	0.995000	0.86356	0.034000	0.13776	-1.809000	0.01232	0.529000	0.55759	GCG		0.627	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892		43	75	0	0	0	0.859065	0	43	75					A	19560130	G	A	19560130	3	1	391	1	0	0	0	0	1	0	0	0	14255	1087	38	1	204	1	SH3KBP1	23	19560130	Missense_Mutation	SNP	G	TCGA-ET-A3DS-01A-11D-A19J-08		19560130	135710430	11	8109											
GPR112	139378	broad.mit.edu	37	chrX	135427194	135427194	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcattgaatctacagctgcCggaactgtaccttggtttac	8	10	2	1			TCGA-ET-A3DS-01A-11D-A19J-08	TCGA-ET-A3DS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02fad9d-940c-45dc-829b-39c38d2f6f76	0ed6611d-ccc7-4403-a1b0-6e56cd147e8f	g.chrX:135427194C>T	ENST00000394143.1	+	6	1620	c.1329C>T	c.(1327-1329)gcC>gcT	p.A443A	GPR112_ENST00000287534.4_Silent_p.A380A|GPR112_ENST00000394141.1_Silent_p.A238A|GPR112_ENST00000412101.1_Silent_p.A238A|GPR112_ENST00000370652.1_Silent_p.A443A	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	443					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTACAGCTGCCGGAACTGTAC	0.478																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(1327-1329)gcC>gcT		G protein-coupled receptor 112							79	72	74					X																	135427194		2203	4300	6503	SO:0001819	synonymous_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135427194C>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.1329C>T	X.37:g.135427194C>T						GPR112_ENST00000412101.1_Silent_p.A238A|GPR112_ENST00000394141.1_Silent_p.A238A|GPR112_ENST00000370652.1_Silent_p.A443A|GPR112_ENST00000287534.4_Silent_p.A380A	p.A443A	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	1620	+	Acute lymphoblastic leukemia(192;0.000127)		443					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	c.1329C>T	CCDS35409.1																																																																																				0.478	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			23	66	0	0	0	0.608945	0	23	66					T	135427194	C	T	135427194	2	4	391	1	0	0	0	0	0	0	0	1	6629	639	23	1		1	GPR112	23	135427194	Silent	SNP	C	TCGA-ET-A3DS-01A-11D-A19J-08	115867064	135427194	19843366	12	8110											
GRM2	2912	broad.mit.edu	37	chr3	51746681	51746681	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccactgtggcgtctgagggcGactatggcgagacaggcatt	15	10	1	2			TCGA-ET-A3DT-01A-11D-A19J-08	TCGA-ET-A3DT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d4fa4b-f805-4b31-957e-defc6913a3c5	79039652-38f5-4155-8ee4-bf4312bde77d	g.chr3:51746681G>T	ENST00000395052.3	+	3	877	c.643G>T	c.(643-645)Gac>Tac	p.D215Y	GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Missense_Mutation_p.D215Y	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	215					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTCTGAGGGCGACTATGGCGA	0.602																																						ENST00000395052.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(643-645)Gac>Tac		glutamate receptor, metabotropic 2	Acamprosate(DB00659)|Nicotine(DB00184)						109	99	102					3																	51746681		2203	4300	6503	SO:0001583	missense	2912				synaptic transmission	integral to plasma membrane		g.chr3:51746681G>T	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.643G>T	3.37:g.51746681G>T	ENSP00000378492:p.Asp215Tyr					GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Missense_Mutation_p.D215Y	p.D215Y	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	3	877	+			215					B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	ENST00000395052.3	37	c.643G>T	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550242	0.86127	.	.	ENSG00000164082	ENST00000395052;ENST00000442933	D;D	0.85484	-1.99;-1.99	5.04	5.04	0.67666	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.93946	0.8062	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95005	0.8146	10	0.87932	D	0	.	18.7614	0.91853	0.0:0.0:1.0:0.0	.	215	Q14416	GRM2_HUMAN	Y	215	ENSP00000378492:D215Y;ENSP00000408906:D215Y	ENSP00000296479:D215Y	D	+	1	0	GRM2	51721721	1.000000	0.71417	0.959000	0.39883	0.966000	0.64601	9.869000	0.99810	2.524000	0.85096	0.655000	0.94253	GAC		0.602	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			24	62	1	0	6.36457e-07	0.0918	7.2738e-07	24	62					T	51746681	G	T	51746681	3	4	392	1	0	0	0	0	1	0	0	0	6797	1058	37	4	649	4	GRM2	3	51746681	Missense_Mutation	SNP	G	TCGA-ET-A3DT-01A-11D-A19J-08		51746681	146275749	1	8111											
FOXP2	93986	broad.mit.edu	37	chr7	114269973	114269973	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaacaacagcagcagcaAcaacaacaacaacagcagca	6	14	0	0	rs576887296|rs398124272	byFrequency	TCGA-ET-A3DT-01A-11D-A19J-08	TCGA-ET-A3DT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d4fa4b-f805-4b31-957e-defc6913a3c5	79039652-38f5-4155-8ee4-bf4312bde77d	g.chr7:114269973A>G	ENST00000393494.2	+	5	789	c.510A>G	c.(508-510)caA>caG	p.Q170Q	FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393500.3_Silent_p.Q95Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|AC020606.1_ENST00000580664.1_RNA			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q195Q(1)	kidney(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(283-285)caA>caG		forkhead box P2							37	35	35					7																	114269973		2203	4294	6497	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	g.chr7:114269973A>G	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.510A>G	7.37:g.114269973A>G						FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|AC020606.1_ENST00000580664.1_RNA	p.Q95Q			O15409	FOXP2_HUMAN			11	1105	+			170			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.285A>G	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		3	48	0	0	0	0.004672	0	3	48					G	114269973	A	G	114269973	2	3	392	1	0	0	0	0	0	0	0	1	6027	40	2	3		3	FOXP2	7	114269973	Silent	SNP	A	TCGA-ET-A3DT-01A-11D-A19J-08		114269973	44868690	2	8112											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A3DT-01A-11D-A19J-08	TCGA-ET-A3DT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d4fa4b-f805-4b31-957e-defc6913a3c5	79039652-38f5-4155-8ee4-bf4312bde77d	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		14	40	0	0	0	0.020292	0	14	40					T	140453136	A	T	140453136	3	4	392	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A3DT-01A-11D-A19J-08	26183163	140453136	18685527	3	8113											
KRTAP5-2	440021	broad.mit.edu	37	chr11	1619378	1619378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagagccacagcccccacGgccggagccacagcccccac	10	22	0	1	rs138454470	byFrequency	TCGA-ET-A3DT-01A-11D-A19J-08	TCGA-ET-A3DT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d4fa4b-f805-4b31-957e-defc6913a3c5	79039652-38f5-4155-8ee4-bf4312bde77d	g.chr11:1619378G>A	ENST00000412090.1	-	1	146	c.103C>T	c.(103-105)Cgt>Tgt	p.R35C	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	35						keratin filament (GO:0045095)				large_intestine(1)|lung(2)|skin(1)	4		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)		CAGCCCCCACGGCCGGAGCCA	0.687													a|||	16	0.00319489	0.0113	0.0014	5008	,	,		7650	0		0	False		,,,				2504	0					ENST00000412090.1																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(103-105)Cgt>Tgt		keratin associated protein 5-2							28	36	33					11																	1619378		2153	4213	6366	SO:0001583	missense	440021					keratin filament		g.chr11:1619378G>A	AB126071	CCDS31331.1	11p15.5	2008-02-05				ENSG00000205867		"Keratin associated proteins"	23597	protein-coding gene	gene with protein product						15144888	Standard	NM_001004325		Approved	KRTAP5.2, KRTAP5-8	uc001ltv.3	Q701N4		ENST00000412090.1:c.103C>T	11.37:g.1619378G>A	ENSP00000400041:p.Arg35Cys					KRTAP5-AS1_ENST00000424148.1_RNA	p.R35C	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	146	-		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)	35					A9JTZ1	Missense_Mutation	SNP	ENST00000412090.1	37	c.103C>T	CCDS31331.1	.	.	.	.	.	.	.	.	.	.	-	13.89	2.373233	0.42105	.	.	ENSG00000205867	ENST00000412090	T	0.00655	5.95	1.5	1.5	0.22942	.	.	.	.	.	T	0.00384	0.0012	N	0.01352	-0.895	0.30628	N	0.757796	.	.	.	.	.	.	T	0.38628	-0.9652	7	0.44086	T	0.13	.	4.9464	0.13991	0.8126:0.0:0.1874:0.0	.	35	Q701N4	KRA52_HUMAN	C	35	ENSP00000400041:R35C	ENSP00000400041:R35C	R	-	1	0	KRTAP5-2	1575954	0.000000	0.05858	0.659000	0.29680	0.640000	0.38277	-0.254000	0.08781	0.123000	0.18342	0.000000	0.15137	CGT		0.687	KRTAP5-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384775.1	NM_001004325		5	72	0	0	0	0.021553	0	5	72					A	1619378	G	A	1619378	3	1	392	1	0	0	0	0	1	0	0	0	8561	1116	39	1	434	1	KRTAP5-2	11	1619378	Missense_Mutation	SNP	G	TCGA-ET-A3DT-01A-11D-A19J-08		1619378	133387138	4	8114											
LSP1	4046	broad.mit.edu	37	chr11	1907970	1907970	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctctgcagaccgctggCcggacccccaagctagcccg	10	20	1	1			TCGA-ET-A3DT-01A-11D-A19J-08	TCGA-ET-A3DT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d4fa4b-f805-4b31-957e-defc6913a3c5	79039652-38f5-4155-8ee4-bf4312bde77d	g.chr11:1907970C>T	ENST00000311604.3	+	8	901	c.726C>T	c.(724-726)ggC>ggT	p.G242G	LSP1_ENST00000406638.2_Silent_p.G180G|LSP1_ENST00000381775.1_Silent_p.G370G|LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000405957.2_Silent_p.G180G	NM_002339.2	NP_002330.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	242					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|signal transducer activity (GO:0004871)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		AGACCGCTGGCCGGACCCCCA	0.602																																						ENST00000406638.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16						c.(538-540)ggC>ggT		lymphocyte-specific protein 1							70	76	74					11																	1907970		2202	4299	6501	SO:0001819	synonymous_variant	4046				cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity	g.chr11:1907970C>T	M33552	CCDS31334.1, CCDS31335.1, CCDS58110.1	11p15.5	2008-02-05			ENSG00000130592	ENSG00000130592			6707	protein-coding gene	gene with protein product		153432				2174784	Standard	NM_001242932		Approved	WP34	uc001luj.3	P33241	OTTHUMG00000012252	ENST00000311604.3:c.726C>T	11.37:g.1907970C>T						LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000405957.2_Silent_p.G180G|LSP1_ENST00000381775.1_Silent_p.G370G|LSP1_ENST00000311604.3_Silent_p.G242G	p.G180G	NM_001013254.1|NM_001013255.1	NP_001013272.1|NP_001013273.1	P33241	LSP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)	8	1842	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	242					B3KPP1|B3KRR6|E9PBV6|E9PFP3|Q16096|Q53H48|Q6FHM3|Q9BUY8	Silent	SNP	ENST00000311604.3	37	c.540C>T	CCDS31334.1																																																																																				0.602	LSP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034045.3	NM_002339		8	84	0	0	0	0.038147	0	8	84					T	1907970	C	T	1907970	2	4	392	1	0	0	0	0	0	0	0	1	9063	726	26	2		2	LSP1	11	1907970	Silent	SNP	C	TCGA-ET-A3DT-01A-11D-A19J-08	288592	1907970	133098546	5	8115											
NCOR1	9611	broad.mit.edu	37	chr17	15973810	15973810	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgatggcagattgaccTgagttgttgtcaaactttat	10	5	1	4			TCGA-ET-A3DT-01A-11D-A19J-08	TCGA-ET-A3DT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d4fa4b-f805-4b31-957e-defc6913a3c5	79039652-38f5-4155-8ee4-bf4312bde77d	g.chr17:15973810T>A	ENST00000268712.3	-	31	4439	c.4182A>T	c.(4180-4182)tcA>tcT	p.S1394S	NCOR1_ENST00000395851.1_Silent_p.S1410S|NCOR1_ENST00000395857.3_5'UTR	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1394	Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CAGATTGACCTGAGTTGTTGT	0.428																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(4180-4182)tcA>tcT		nuclear receptor corepressor 1							175	170	172					17																	15973810		2203	4300	6503	SO:0001819	synonymous_variant	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15973810T>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.4182A>T	17.37:g.15973810T>A						NCOR1_ENST00000395851.1_Silent_p.S1410S|NCOR1_ENST00000395857.3_5'UTR	p.S1394S	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	31	4439	-			1394			Interaction with ETO.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	ENST00000268712.3	37	c.4182A>T	CCDS11175.1																																																																																				0.428	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		21	62	0	0	0	0.069288	0	21	62					A	15973810	T	A	15973810	2	1	392	1	0	0	0	0	0	0	0	1	10235	1567	55	5		5	NCOR1	17	15973810	Silent	SNP	T	TCGA-ET-A3DT-01A-11D-A19J-08		15973810	65221400	6	8116											
CACHD1	57685	broad.mit.edu	37	chr1	65117914	65117914	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggaattgtaggtgtggacgtGaatctggcttacattcttga	13	5	2	2			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr1:65117914G>A	ENST00000371073.2	+	10	1461	c.1461G>A	c.(1459-1461)gtG>gtA	p.V487V	CACHD1_ENST00000290039.5_Silent_p.V436V|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	487	Cache 1.				calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GTGTGGACGTGAATCTGGCTT	0.368																																						ENST00000371073.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(1459-1461)gtG>gtA		cache domain containing 1							219	190	200					1																	65117914		2203	4300	6503	SO:0001819	synonymous_variant	57685				calcium ion transport	integral to membrane		g.chr1:65117914G>A	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"von Willebrand factor type A and cache domain containing 1"	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.1461G>A	1.37:g.65117914G>A						CACHD1_ENST00000290039.5_Silent_p.V436V|CACHD1_ENST00000495994.1_3'UTR	p.V487V			Q5VU97	CAHD1_HUMAN			10	1461	+			487			Cache 1.		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Silent	SNP	ENST00000371073.2	37	c.1461G>A																																																																																					0.368	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		12	72	0	0	0	0.411799	0	12	72					A	65117914	G	A	65117914	2	1	393	1	0	0	0	0	0	0	0	1	2537	1277	45	2		2	CACHD1	1	65117914	Silent	SNP	G	TCGA-ET-A3DU-01A-11D-A19J-08		65117914	184132707	1	8117											
NBPF10	100132406	broad.mit.edu	37	chr1	145368466	145368466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acggcgtgctgatggaagtgGaagagcgtgaagtcttacag	16	6	1	3	rs587649731	byFrequency	TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr1:145368466G>A	ENST00000369339.3	+	17	2051	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K	NBPF10_ENST00000369338.1_Missense_Mutation_p.E598K|NBPF10_ENST00000342960.5_Missense_Mutation_p.E3482K			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	777	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GATGGAAGTGGAAGAGCGTGA	0.468																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10444-10446)Gaa>Aaa		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145368466G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.1798G>A	1.37:g.145368466G>A	ENSP00000358345:p.Glu600Lys					NBPF10_ENST00000369338.1_Missense_Mutation_p.E598K|NBPF10_ENST00000369339.2_Missense_Mutation_p.E600K	p.E3482K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	84	10479	+	all_hematologic(923;0.032)		3482					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37	c.10444G>A		.	.	.	.	.	.	.	.	.	.	.	2.896	-0.228533	0.06022	.	.	ENSG00000163386	ENST00000369339;ENST00000369338;ENST00000342960	T;T	0.09630	2.96;2.96	0.732	-0.352	0.12598	.	.	.	.	.	T	0.02119	0.0066	L	0.33245	0.995	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.45116	-0.9283	9	0.48119	T	0.1	.	3.1395	0.06451	0.3525:0.0:0.6475:0.0	.	546	Q4VC10	.	K	602;598;3482	ENSP00000358344:E598K;ENSP00000345684:E3482K	ENSP00000345684:E3482K	E	+	1	0	NBPF10	144079823	0.003000	0.15002	0.002000	0.10522	0.029000	0.11900	0.222000	0.17699	-0.136000	0.11475	0.384000	0.25694	GAA		0.468	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		30	494	0	0	0	0.750413	0	30	494					A	145368466	G	A	145368466	3	1	393	1	0	0	0	0	1	0	0	0	10193	1175	41	2	10778	2	NBPF10	1	145368466	Missense_Mutation	SNP	G	TCGA-ET-A3DU-01A-11D-A19J-08	80250552	145368466	103882155	2	8118											
PSME4	23198	broad.mit.edu	37	chr2	54146345	54146345	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtttccagagccaattaaaCagttgtgcactatagtcaga	9	8	1	2			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr2:54146345C>A	ENST00000404125.1	-	20	2514	c.2459G>T	c.(2458-2460)tGt>tTt	p.C820F	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	820					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)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|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)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCCAATTAAACAGTTGTGCAC	0.333																																						ENST00000404125.1																			0				breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(2458-2460)tGt>tTt		proteasome (prosome, macropain) activator subunit 4							84	84	84					2																	54146345		2203	4300	6503	SO:0001583	missense	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|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|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54146345C>A	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.2459G>T	2.37:g.54146345C>A	ENSP00000384211:p.Cys820Phe					PSME4_ENST00000421748.2_Intron	p.C820F	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		20	2514	-			820					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	c.2459G>T	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687655	0.88639	.	.	ENSG00000068878	ENST00000404125	T	0.22539	1.95	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.43456	0.1248	M	0.64997	1.995	0.80722	D	1	D;D	0.64830	0.994;0.99	P;P	0.62382	0.901;0.724	T	0.04708	-1.0932	10	0.35671	T	0.21	.	19.8365	0.96659	0.0:1.0:0.0:0.0	.	195;820	Q14997-2;Q14997	.;PSME4_HUMAN	F	820	ENSP00000384211:C820F	ENSP00000384211:C820F	C	-	2	0	PSME4	53999849	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.611000	0.82962	2.694000	0.91930	0.467000	0.42956	TGT		0.333	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		3	50	1	0	0.00024832	0.150653	0.000269013	3	50					A	54146345	C	A	54146345	3	1	393	1	0	0	0	0	1	0	0	0	12709	478	17	4	3180	4	PSME4	2	54146345	Missense_Mutation	SNP	C	TCGA-ET-A3DU-01A-11D-A19J-08		54146345	189053028	3	8119											
GIGYF2	26058	broad.mit.edu	37	chr2	233710457	233710457	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttagtaaatctgtaggtgtGtctaaccggcagaataagaa	10	5	2	2			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr2:233710457G>A	ENST00000409547.1	+	28	3632	c.3321G>A	c.(3319-3321)gtG>gtA	p.V1107V	GIGYF2_ENST00000409480.1_Silent_p.V1129V|GIGYF2_ENST00000409451.3_Silent_p.V1128V|GIGYF2_ENST00000373563.4_Silent_p.V1107V|GIGYF2_ENST00000373566.3_Silent_p.V1129V|GIGYF2_ENST00000409196.3_Silent_p.V1101V	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1107					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CTGTAGGTGTGTCTAACCGGC	0.363																																						ENST00000373566.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(3385-3387)gtG>gtA		GRB10 interacting GYF protein 2							94	96	95					2																	233710457		2203	4300	6503	SO:0001819	synonymous_variant	26058				cell death		protein binding	g.chr2:233710457G>A	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"Trinucleotide (CAG) repeat containing"	11960	protein-coding gene	gene with protein product	"GYF domain containing 2"	612003	"PERQ amino acid rich, with GYF domain 2", "PERQ amino acid rich, with GYF domain 3", "trinucleotide repeat containing 15", "Parkinson disease (autosomal recessive, early onset) 11"	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.3321G>A	2.37:g.233710457G>A						GIGYF2_ENST00000409480.1_Silent_p.V1129V|GIGYF2_ENST00000373563.4_Silent_p.V1107V|GIGYF2_ENST00000409547.1_Silent_p.V1107V|GIGYF2_ENST00000409451.3_Silent_p.V1128V|GIGYF2_ENST00000409196.3_Silent_p.V1101V	p.V1129V			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	27	3584	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	1107					A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Silent	SNP	ENST00000409547.1	37	c.3387G>A	CCDS33401.1																																																																																				0.363	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		4	75	0	0	0	0.184627	0	4	75					A	233710457	G	A	233710457	2	1	393	1	0	0	0	0	0	0	0	1	6378	1364	48	2		2	GIGYF2	2	233710457	Silent	SNP	G	TCGA-ET-A3DU-01A-11D-A19J-08	179564112	233710457	9488916	4	8120											
KCNAB1	7881	broad.mit.edu	37	chr3	156009858	156009858	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcagcctggggacgttcacGcctcagcatcacatttctct	9	15	4	0	rs138625130		TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr3:156009858G>T	ENST00000490337.1	+	2	339				KCNAB1_ENST00000302490.8_Silent_p.T54T|KCNAB1_ENST00000471742.1_Intron|KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000389634.5_Silent_p.T54T	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1						learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|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)	p.T54T(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GGACGTTCACGCCTCAGCATC	0.567													G|||	1	0.000199681	0	0	5008	,	,		17647	0		0	False		,,,				2504	0.001					ENST00000302490.8																			1	Substitution - coding silent(1)	p.T54T(1)	lung(1)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(160-162)acG>acT		potassium voltage-gated channel, shaker-related subfamily, beta member 1		G	,,	1,4405	2.1+/-5.4	0,1,2202	76	70	72		,162,	3.3	1.0	3	dbSNP_134	72	0,8600		0,0,4300	no	intron,coding-synonymous,intron	KCNAB1	NM_003471.3,NM_172159.3,NM_172160.2	,,	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	,,	,54/402,	156009858	1,13005	2203	4300	6503	SO:0001627	intron_variant	7881					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr3:156009858G>T	U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"Potassium channels", "Aldo-keto reductases"	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.276-129547G>T	3.37:g.156009858G>T						KCNAB1_ENST00000471742.1_Intron|KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000490337.1_Intron|KCNAB1_ENST00000389634.5_Silent_p.T54T	p.T54T	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		1	1033	+			72					A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Silent	SNP	ENST00000490337.1	37	c.162G>T	CCDS3174.1																																																																																				0.567	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471		4	81	1	0	1.23904e-05	0.184627	1.42125e-05	4	81					T	156009858	G	T	156009858	1	4	393	0	1	0	0	0	0	0	0	0	8009	1074	38	4		4	KCNAB1	3	156009858	Intron	SNP	G	TCGA-ET-A3DU-01A-11D-A19J-08		156009858	42012572	5	8121											
BOD1L	259282	broad.mit.edu	37	chr4	13593582	13593582	+	Frame_Shift_Del	DEL	G	G	-													caccaacaaaggctccctctGgagttcagctgttcaaaaat							TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr4:13593582delG	ENST00000040738.5	-	13	8248	c.8113delC	c.(8113-8115)cagfs	p.Q2705fs		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2705						nucleus (GO:0005634)	DNA binding (GO:0003677)										GGCTCCCTCTGGAGTTCAGCT	0.308																																						ENST00000040738.5																			0											c.(8113-8115)agfs		biorientation of chromosomes in cell division 1-like 1							48	48	48					4																	13593582		2199	4293	6492	SO:0001589	frameshift_variant	259282						DNA binding	g.chr4:13593582delG	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.8113delC	4.37:g.13593582delG	ENSP00000040738:p.Gln2705fs						p.Q2705fs	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			13	8248	-			2705					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Frame_Shift_Del	DEL	ENST00000040738.5	37	c.8113delC	CCDS3411.2																																																																																				0.308	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		2	4						2	4	---	---	---	---	-	13593582	G	-	13593582	7	5	393	1	0	1	0	1	0	0	0	0	1483	1357	47	0	1098	0	BOD1L	4	13593582	Frame_Shift_Del	DEL	G	TCGA-ET-A3DU-01A-11D-A19J-08		13593582	177560694	6	8122											
FRAS1	80144	broad.mit.edu	37	chr4	79207662	79207662	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtgcctacctgtggggaCggcttctaccaagatcgcca	12	12	1	1	rs370655417		TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr4:79207662C>T	ENST00000325942.6	+	14	1943	c.1503C>T	c.(1501-1503)gaC>gaT	p.D501D	FRAS1_ENST00000264899.6_Silent_p.D501D|FRAS1_ENST00000264895.6_Silent_p.D501D	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	501					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCTGTGGGGACGGCTTCTACC	0.632																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(1501-1503)gaC>gaT		Fraser syndrome 1		C	,	1,4289		0,1,2144	73	77	75		1503,1503	-8.8	0.7	4		75	0,8484		0,0,4242	no	coding-synonymous,coding-synonymous	FRAS1	NM_001166133.1,NM_025074.6	,	0,1,6386	TT,TC,CC		0.0,0.0233,0.0078	,	501/1977,501/4013	79207662	1,12773	2145	4242	6387	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79207662C>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.1503C>T	4.37:g.79207662C>T						FRAS1_ENST00000264899.6_Silent_p.D501D|FRAS1_ENST00000325942.6_Silent_p.D501D	p.D501D	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			14	1943	+			501					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000325942.6	37	c.1503C>T	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.477|0.477	-0.881738|-0.881738	0.02530|0.02530	2.33E-4|2.33E-4	0.0|0.0	ENSG00000138759|ENSG00000138759	ENST00000508900;ENST00000534913|ENST00000502446	.|.	.|.	.|.	5.2|5.2	-8.76|-8.76	0.00830|0.00830	.|.	.|.	.|.	.|.	.|.	T|T	0.34600|0.34600	0.0903|0.0903	.|.	.|.	.|.	0.47094|0.47094	D|D	0.999311|0.999311	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.41324|0.41324	-0.9515|-0.9515	4|4	.|.	.|.	.|.	.|.	2.428|2.428	0.04464|0.04464	0.2277:0.107:0.162:0.5034|0.2277:0.107:0.162:0.5034	.|.	.|.	.|.	.|.	W|M	344;246|430	.|.	.|.	R|T	+|+	1|2	2|0	FRAS1|FRAS1	79426686|79426686	0.000000|0.000000	0.05858|0.05858	0.722000|0.722000	0.30670|0.30670	0.138000|0.138000	0.21146|0.21146	-4.060000|-4.060000	0.00303|0.00303	-1.520000|-1.520000	0.01773|0.01773	-1.012000|-1.012000	0.02466|0.02466	CGG|ACG		0.632	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			6	77	0	0	0	0.217242	0	6	77					T	79207662	C	T	79207662	2	4	393	1	0	0	0	0	0	0	0	1	6042	535	19	1		1	FRAS1	4	79207662	Silent	SNP	C	TCGA-ET-A3DU-01A-11D-A19J-08	65614080	79207662	111946614	7	8123											
AIM1	202	broad.mit.edu	37	chr6	106992466	106992466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggttgcatatgagaaacCtggatttaccggtcatcagt	11	7	2	1			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr6:106992466C>T	ENST00000369066.3	+	10	4323	c.3836C>T	c.(3835-3837)cCt>cTt	p.P1279L	AIM1_ENST00000535438.1_Missense_Mutation_p.P98L|AIM1_ENST00000487681.1_3'UTR	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TATGAGAAACCTGGATTTACC	0.398																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(3835-3837)cCt>cTt		absent in melanoma 1							91	90	90					6																	106992466		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106992466C>T	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"suppression of tumorigenicity 4", "beta-gamma crystallin domain containing 1"	601797	"suppression of tumorigenicity 4 (malignant melanoma)"	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.3836C>T	6.37:g.106992466C>T	ENSP00000358062:p.Pro1279Leu					AIM1_ENST00000535438.1_Missense_Mutation_p.P98L|AIM1_ENST00000487681.1_3'UTR	p.P1279L	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	10	4323	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	1279			Beta/gamma crystallin 'Greek key' 6.		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.3836C>T	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980451	0.74474	.	.	ENSG00000112297	ENST00000369066;ENST00000457437;ENST00000535438	T;T;T	0.79653	-1.29;-1.29;-1.29	5.85	4.97	0.65823	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.235453	0.51477	D	0.000083	D	0.87124	0.6099	M	0.92459	3.31	0.58432	D	0.999999	P;B	0.46512	0.879;0.062	P;B	0.51550	0.673;0.219	D	0.90337	0.4356	10	0.87932	D	0	.	16.6231	0.84935	0.0:0.8656:0.1344:0.0	.	98;1279	B4DU04;Q9Y4K1	.;AIM1_HUMAN	L	1279;98;98	ENSP00000358062:P1279L;ENSP00000391419:P98L;ENSP00000439183:P98L	ENSP00000358062:P1279L	P	+	2	0	AIM1	107099159	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	2.154000	0.42291	1.440000	0.47531	0.655000	0.94253	CCT		0.398	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			4	69	0	0	0	0.184627	0	4	69					T	106992466	C	T	106992466	3	4	393	1	0	0	0	0	1	0	0	0	430	681	24	2	3874	2	AIM1	6	106992466	Missense_Mutation	SNP	C	TCGA-ET-A3DU-01A-11D-A19J-08		106992466	64122601	8	8124											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		19	52	0	0	0	0.575678	0	19	52					T	140453136	A	T	140453136	3	4	393	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A3DU-01A-11D-A19J-08		140453136	18685527	9	8125											
MLL3	58508	broad.mit.edu	37	chr7	151878394	151878394	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	caaacaagtcagtttgtgtaGatggtcttggggtttggggc	15	5	2	1			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr7:151878394G>C	ENST00000262189.6	-	36	6769	c.6551C>G	c.(6550-6552)tCt>tGt	p.S2184C	KMT2C_ENST00000355193.2_Missense_Mutation_p.S2184C	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2184	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AGTTTGTGTAGATGGTCTTGG	0.483																																						ENST00000355193.2																			0											c.(6550-6552)tCt>tGt		lysine (K)-specific methyltransferase 2C							121	117	118					7																	151878394		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151878394G>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6551C>G	7.37:g.151878394G>C	ENSP00000262189:p.Ser2184Cys					KMT2C_ENST00000262189.6_Missense_Mutation_p.S2184C	p.S2184C							36	6769	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.6551C>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	8.788	0.929858	0.18131	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84589	-1.87;-1.87	5.37	4.47	0.54385	.	0.499718	0.16720	N	0.202297	D	0.82522	0.5055	L	0.53249	1.67	0.80722	D	1	P;P	0.44877	0.845;0.755	B;B	0.43331	0.237;0.416	T	0.81660	-0.0832	10	0.54805	T	0.06	.	9.1777	0.37123	0.0726:0.0:0.7804:0.1469	.	2184;1245	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	C	2184	ENSP00000262189:S2184C;ENSP00000347325:S2184C	ENSP00000262189:S2184C	S	-	2	0	MLL3	151509327	0.781000	0.28676	0.002000	0.10522	0.203000	0.24098	4.298000	0.59067	1.376000	0.46267	0.655000	0.94253	TCT		0.483	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			6	89	0	0	0	0.27861	0	6	89					C	151878394	G	C	151878394	3	2	393	1	0	0	0	0	1	0	0	0	9622	942	33	4	8280	4	MLL3	7	151878394	Missense_Mutation	SNP	G	TCGA-ET-A3DU-01A-11D-A19J-08	11425258	151878394	7260269	10	8126			1	14		4	4	1181	G		7.361479e-11
MLL3	58508	broad.mit.edu	37	chr7	151878929	151878929	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggagatggtttagtaaagtGatcactggttccagctgcta	12	6	1	2			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr7:151878929G>A	ENST00000262189.6	-	36	6234	c.6016C>T	c.(6016-6018)Cac>Tac	p.H2006Y	KMT2C_ENST00000355193.2_Missense_Mutation_p.H2006Y	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2006	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TTAGTAAAGTGATCACTGGTT	0.463																																						ENST00000355193.2																			0											c.(6016-6018)Cac>Tac		lysine (K)-specific methyltransferase 2C							137	139	138					7																	151878929		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151878929G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6016C>T	7.37:g.151878929G>A	ENSP00000262189:p.His2006Tyr					KMT2C_ENST00000262189.6_Missense_Mutation_p.H2006Y	p.H2006Y							36	6234	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.6016C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	9.764	1.170867	0.21621	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	T;T	0.41400	1.0;1.0	5.59	3.77	0.43336	.	0.327152	0.21064	U	0.080775	T	0.24661	0.0598	N	0.24115	0.695	0.80722	D	1	P;P	0.47604	0.837;0.898	B;B	0.37550	0.129;0.253	T	0.02925	-1.1093	10	0.54805	T	0.06	.	7.2717	0.26260	0.1397:0.0:0.7223:0.1379	.	2006;1067	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	Y	2006	ENSP00000262189:H2006Y;ENSP00000347325:H2006Y	ENSP00000262189:H2006Y	H	-	1	0	MLL3	151509862	0.988000	0.35896	0.036000	0.18154	0.897000	0.52465	2.712000	0.47186	0.720000	0.32209	0.558000	0.71614	CAC		0.463	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			15	201	0	0	0	0.520397	0	15	201					A	151878929	G	A	151878929	3	1	393	1	0	0	0	0	1	0	0	0	9622	1290	45	2	8815	2	MLL3	7	151878929	Missense_Mutation	SNP	G	TCGA-ET-A3DU-01A-11D-A19J-08	535	151878929	7259734	11	8127			1	14		4	4	1181	G		7.361479e-11
MLL3	58508	broad.mit.edu	37	chr7	151879081	151879081	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggtcattatttgtcgtggaaGaagaacataaatctctgaca	9	6	2	3	rs375733941		TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr7:151879081G>A	ENST00000262189.6	-	36	6082	c.5864C>T	c.(5863-5865)tCt>tTt	p.S1955F	KMT2C_ENST00000355193.2_Missense_Mutation_p.S1955F	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1955	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGTCGTGGAAGAAGAACATAA	0.463																																						ENST00000355193.2																			0											c.(5863-5865)tCt>tTt		lysine (K)-specific methyltransferase 2C							154	161	159					7																	151879081		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151879081G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5864C>T	7.37:g.151879081G>A	ENSP00000262189:p.Ser1955Phe					KMT2C_ENST00000262189.6_Missense_Mutation_p.S1955F	p.S1955F							36	6082	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.5864C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753264	0.49362	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	T;T	0.56941	0.43;0.43	5.41	5.41	0.78517	.	0.000000	0.43416	U	0.000561	T	0.52661	0.1748	L	0.29908	0.895	0.80722	D	1	P;D	0.55172	0.664;0.97	B;P	0.52856	0.317;0.711	T	0.56625	-0.7948	10	0.87932	D	0	.	13.4865	0.61369	0.0751:0.0:0.9249:0.0	.	1955;1016	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	F	1955	ENSP00000262189:S1955F;ENSP00000347325:S1955F	ENSP00000262189:S1955F	S	-	2	0	MLL3	151510014	1.000000	0.71417	0.953000	0.39169	0.791000	0.44710	6.768000	0.74980	2.540000	0.85666	0.563000	0.77884	TCT		0.463	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			12	210	0	0	0	0.457914	0	12	210					A	151879081	G	A	151879081	3	1	393	1	0	0	0	0	1	0	0	0	9622	942	33	2	8967	2	MLL3	7	151879081	Missense_Mutation	SNP	G	TCGA-ET-A3DU-01A-11D-A19J-08	152	151879081	7259582	12	8128			1	14		4	4	1181	G		7.361479e-11
MLL3	58508	broad.mit.edu	37	chr7	151879574	151879574	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agactgcaccagaagatgctGagaaccaaattgctgttgtt	10	8	0	4			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr7:151879574G>A	ENST00000262189.6	-	36	5589	c.5371C>T	c.(5371-5373)Cag>Tag	p.Q1791*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q1791*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1791	Gln-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Q1791*(2)									AGAAGATGCTGAGAACCAAAT	0.468																																						ENST00000355193.2																			2	Substitution - Nonsense(2)	p.Q1791*(2)	lung(2)								c.(5371-5373)Cag>Tag		lysine (K)-specific methyltransferase 2C							124	125	124					7																	151879574		2203	4300	6503	SO:0001587	stop_gained	58508							g.chr7:151879574G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5371C>T	7.37:g.151879574G>A	ENSP00000262189:p.Gln1791*					KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Q1791*	p.Q1791*							36	5589	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.5371C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	46	12.956122	0.99709	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.4	4.49	0.54785	.	0.000000	0.42548	D	0.000687	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	15.7431	0.77918	0.0:0.1371:0.8629:0.0	.	.	.	.	X	1791	.	ENSP00000262189:Q1791X	Q	-	1	0	MLL3	151510507	1.000000	0.71417	0.071000	0.20095	0.994000	0.84299	6.487000	0.73633	1.213000	0.43380	0.557000	0.71058	CAG		0.468	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			15	177	0	0	0	0.457914	0	15	177					A	151879574	G	A	151879574	4	1	393	1	0	0	0	0	0	1	0	0	9622	1299	45	2	9460	2	MLL3	7	151879574	Nonsense_Mutation	SNP	G	TCGA-ET-A3DU-01A-11D-A19J-08	493	151879574	7259089	13	8129			1	14		4	4	1181	G		7.361479e-11
TRPM3	80036	broad.mit.edu	37	chr9	73152080	73152080	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagcttgaaggtgttcccttCctggctgttgaagctgctct	12	10	1	2	rs144341800		TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr9:73152080C>T	ENST00000377111.2	-	25	4156	c.3913G>A	c.(3913-3915)Gaa>Aaa	p.E1305K	TRPM3_ENST00000377106.1_Missense_Mutation_p.E1177K|TRPM3_ENST00000358082.3_Missense_Mutation_p.E1167K|TRPM3_ENST00000396280.5_Missense_Mutation_p.E1154K|TRPM3_ENST00000357533.2_Missense_Mutation_p.E1309K|TRPM3_ENST00000396285.1_Missense_Mutation_p.E1164K|TRPM3_ENST00000423814.3_Missense_Mutation_p.E1332K|TRPM3_ENST00000360823.2_Missense_Mutation_p.E1167K|TRPM3_ENST00000396292.4_Missense_Mutation_p.E1177K|TRPM3_ENST00000377105.1_Missense_Mutation_p.E1164K|TRPM3_ENST00000377110.3_Missense_Mutation_p.E1305K|TRPM3_ENST00000408909.2_Missense_Mutation_p.E1164K	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1330					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)	p.E1309K(1)|p.E1177K(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GTGTTCCCTTCCTGGCTGTTG	0.567																																						ENST00000377110.2																			2	Substitution - Missense(2)	p.E1309K(1)|p.E1177K(1)	skin(2)	NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(3913-3915)Gaa>Aaa		transient receptor potential cation channel, subfamily M, member 3							138	126	130					9																	73152080		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73152080C>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.3913G>A	9.37:g.73152080C>T	ENSP00000366315:p.Glu1305Lys					TRPM3_ENST00000408909.2_Missense_Mutation_p.E1164K|TRPM3_ENST00000360823.2_Missense_Mutation_p.E1167K|TRPM3_ENST00000377106.1_Missense_Mutation_p.E1177K|TRPM3_ENST00000396280.5_Missense_Mutation_p.E1154K|TRPM3_ENST00000396292.4_Missense_Mutation_p.E1177K|TRPM3_ENST00000377111.2_Missense_Mutation_p.E1305K|TRPM3_ENST00000357533.2_Missense_Mutation_p.E1309K|TRPM3_ENST00000396285.1_Missense_Mutation_p.E1164K|TRPM3_ENST00000423814.3_Missense_Mutation_p.E1332K|TRPM3_ENST00000377105.1_Missense_Mutation_p.E1164K|TRPM3_ENST00000358082.3_Missense_Mutation_p.E1167K	p.E1305K	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			25	4156	-			1330					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.3913G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.18|19.18	3.777421|3.777421	0.70107|0.70107	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	T;T;T;T;T;T;T;T;T;T;T|.	0.60548|.	0.34;0.3;0.22;0.22;0.18;0.29;0.18;0.21;0.22;0.22;0.3|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.050980|.	0.85682|.	D|.	0.000000|.	T|T	0.67183|0.67183	0.2866|0.2866	L|L	0.36672|0.36672	1.1|1.1	0.58432|0.58432	D|D	0.999999|0.999999	P;B;P;B;P;P;B;P|.	0.40431|.	0.57;0.274;0.619;0.439;0.633;0.716;0.383;0.717|.	B;B;B;B;B;B;B;B|.	0.43052|.	0.255;0.072;0.406;0.109;0.114;0.311;0.237;0.15|.	T|T	0.58797|0.58797	-0.7573|-0.7573	10|5	0.16420|.	T|.	0.52|.	-27.4447|-27.4447	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1305;1305;1295;1309;1167;1164;1277;1164|.	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	.;.;.;.;.;.;.;.|.	K|E	1305;1305;1177;1167;1164;1309;1164;1164;1177;1167;1332|1153	ENSP00000366315:E1305K;ENSP00000366314:E1305K;ENSP00000366310:E1177K;ENSP00000354066:E1167K;ENSP00000366309:E1164K;ENSP00000350140:E1309K;ENSP00000386127:E1164K;ENSP00000379581:E1164K;ENSP00000379587:E1177K;ENSP00000350791:E1167K;ENSP00000389542:E1332K|.	ENSP00000350140:E1309K|.	E|G	-|-	1|2	0|0	TRPM3|TRPM3	72341900|72341900	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.487000|7.487000	0.81328|0.81328	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAA|GGA		0.567	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		23	100	0	0	0	0.681144	0	23	100					T	73152080	C	T	73152080	3	4	393	1	0	0	0	0	1	0	0	0	16584	864	30	2	1214	2	TRPM3	9	73152080	Missense_Mutation	SNP	C	TCGA-ET-A3DU-01A-11D-A19J-08		73152080	68061351	14	8130											
TIPIN	54962	broad.mit.edu	37	chr15	66633685	66633685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcatgttcattattctccGcaacttcatctgcaatagaa	4	11	5	1			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr15:66633685G>A	ENST00000261881.4	-	7	570	c.485C>T	c.(484-486)gCg>gTg	p.A162V	TIPIN_ENST00000367709.4_Missense_Mutation_p.A61V	NM_017858.2	NP_060328	Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein	162					cell cycle phase transition (GO:0044770)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|regulation of nuclear cell cycle DNA replication (GO:0033262)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						ATTATTCTCCGCAACTTCATC	0.363																																						ENST00000261881.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						c.(484-486)gCg>gTg		TIMELESS interacting protein							57	51	53					15																	66633685		2201	4299	6500	SO:0001583	missense	54962				cell division|DNA replication checkpoint|intra-S DNA damage checkpoint|mitosis|positive regulation of cell proliferation|regulation of DNA replication involved in S phase|replication fork protection	cytoplasm|nuclear chromatin	protein binding	g.chr15:66633685G>A	BK001386	CCDS10215.1	15q22.31	2012-03-02	2006-08-08		ENSG00000075131	ENSG00000075131			30750	protein-coding gene	gene with protein product	"CSM3 homolog (S. cerevisiae)"	610716				12875843, 17102137	Standard	NM_017858		Approved	FLJ20516	uc002apr.2	Q9BVW5	OTTHUMG00000133188	ENST00000261881.4:c.485C>T	15.37:g.66633685G>A	ENSP00000261881:p.Ala162Val					TIPIN_ENST00000367709.4_Missense_Mutation_p.A61V	p.A162V	NM_017858.2	NP_060328.2	Q9BVW5	TIPIN_HUMAN			7	570	-			162					B2CW64|Q9NWZ6	Missense_Mutation	SNP	ENST00000261881.4	37	c.485C>T	CCDS10215.1	.	.	.	.	.	.	.	.	.	.	G	9.097	1.003110	0.19121	.	.	ENSG00000075131	ENST00000367709;ENST00000261881	T;T	0.15834	2.39;2.64	5.61	-4.45	0.03546	Replication fork protection component Swi3 (1);	1.005110	0.08001	N	0.988705	T	0.07999	0.0200	N	0.22421	0.69	0.09310	N	1	B	0.16802	0.019	B	0.04013	0.001	T	0.37361	-0.9709	10	0.28530	T	0.3	-0.6169	1.7613	0.02992	0.172:0.3369:0.2706:0.2204	.	162	Q9BVW5	TIPIN_HUMAN	V	61;162	ENSP00000356682:A61V;ENSP00000261881:A162V	ENSP00000261881:A162V	A	-	2	0	TIPIN	64420739	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.113000	0.03296	-0.606000	0.05746	-1.310000	0.01310	GCG		0.363	TIPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256897.2	NM_017858		3	24	0	0	0	0.115264	0	3	24					A	66633685	G	A	66633685	3	1	393	1	0	0	0	0	1	0	0	0	15922	1087	38	1	428	1	TIPIN	15	66633685	Missense_Mutation	SNP	G	TCGA-ET-A3DU-01A-11D-A19J-08		66633685	35897707	15	8131											
NDUFB10	4716	broad.mit.edu	37	chr16	2011570	2011570	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagagggaaggacagaaCtaccagcagaactgtatcaa	11	9	1	3			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr16:2011570C>T	ENST00000268668.6	+	3	459	c.342C>T	c.(340-342)aaC>aaT	p.N114N	NDUFB10_ENST00000569148.1_Silent_p.N103N|SNORA64_ENST00000384674.1_RNA|NDUFB10_ENST00000543683.2_Silent_p.N114N|SNORA10_ENST00000384084.1_RNA	NM_004548.2	NP_004539.1	O96000	NDUBA_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa	114					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			lung(1)|urinary_tract(1)	2						AAGGACAGAACTACCAGCAGA	0.557																																						ENST00000543683.2																			0				lung(1)|urinary_tract(1)	2						c.(340-342)aaC>aaT		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa	NADH(DB00157)						122	125	124					16																	2011570		2199	4300	6499	SO:0001819	synonymous_variant	4716				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr16:2011570C>T	AF044954	CCDS10451.1	16p13.3	2011-07-04	2002-08-29		ENSG00000140990	ENSG00000140990		"Mitochondrial respiratory chain complex / Complex I"	7696	protein-coding gene	gene with protein product	"complex I PDSW subunit"	603843	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10 (22kD, PDSW)"			9763677, 9878551	Standard	NM_004548		Approved	PDSW	uc002cni.2	O96000	OTTHUMG00000128709	ENST00000268668.6:c.342C>T	16.37:g.2011570C>T						NDUFB10_ENST00000569148.1_Silent_p.N103N|NDUFB10_ENST00000268668.6_Silent_p.N114N	p.N114N			O96000	NDUBA_HUMAN			3	424	+			114					Q96II6	Silent	SNP	ENST00000268668.6	37	c.342C>T	CCDS10451.1																																																																																				0.557	NDUFB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250614.2	NM_004548		14	89	0	0	0	0.457914	0	14	89					T	2011570	C	T	2011570	2	4	393	1	0	0	0	0	0	0	0	1	10279	564	20	2		2	NDUFB10	16	2011570	Silent	SNP	C	TCGA-ET-A3DU-01A-11D-A19J-08		2011570	88343183	16	8132											
KIF1C	10749	broad.mit.edu	37	chr17	4906130	4906130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagctcacggggctggactCggagaaggtgggatcgcccc	16	13	1	1			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr17:4906130C>T	ENST00000320785.5	+	8	1070	c.713C>T	c.(712-714)tCg>tTg	p.S238L		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	238	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						GGGCTGGACTCGGAGAAGGTG	0.632																																					Melanoma(96;1023 1447 10250 19259 33730)	ENST00000320785.5																			0				NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						c.(712-714)tCg>tTg		kinesin family member 1C							99	78	85					17																	4906130		2203	4300	6503	SO:0001583	missense	10749				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity	g.chr17:4906130C>T	U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"Kinesins"	6317	protein-coding gene	gene with protein product		603060	"spastic ataxia 2 (autosomal recessive)"	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.713C>T	17.37:g.4906130C>T	ENSP00000320821:p.Ser238Leu						p.S238L	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN			8	1070	+			238			Kinesin-motor.		D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	ENST00000320785.5	37	c.713C>T	CCDS11065.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485385	0.63962	.	.	ENSG00000129250	ENST00000320785	T	0.75367	-0.93	5.41	5.41	0.78517	Kinesin, motor domain (4);	.	.	.	.	T	0.62146	0.2404	L	0.31294	0.92	0.53005	D	0.999965	P	0.38767	0.646	B	0.32465	0.146	T	0.62310	-0.6881	9	0.29301	T	0.29	.	17.0577	0.86539	0.0:1.0:0.0:0.0	.	238	O43896	KIF1C_HUMAN	L	238	ENSP00000320821:S238L	ENSP00000320821:S238L	S	+	2	0	KIF1C	4846854	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	7.674000	0.83992	2.714000	0.92807	0.561000	0.74099	TCG		0.632	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1			6	56	0	0	0	0.217242	0	6	56					T	4906130	C	T	4906130	3	4	393	1	0	0	0	0	1	0	0	0	8285	893	31	1	735	1	KIF1C	17	4906130	Missense_Mutation	SNP	C	TCGA-ET-A3DU-01A-11D-A19J-08		4906130	76289080	17	8133											
FCGBP	8857	broad.mit.edu	37	chr19	40433640	40433640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagctgtgacctttgaccccGagagatccactgagctctgt	10	12	1	4			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr19:40433640G>A	ENST00000221347.6	-	2	636	c.629C>T	c.(628-630)tCg>tTg	p.S210L		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	210	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTTTGACCCCGAGAGATCCAC	0.542																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(628-630)tCg>tTg		Fc fragment of IgG binding protein							72	72	72					19																	40433640		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40433640G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.629C>T	19.37:g.40433640G>A	ENSP00000221347:p.Ser210Leu						p.S210L	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		2	636	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		210			IgGFc-binding.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.629C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.455589	0.63401	.	.	ENSG00000090920	ENST00000221347	T	0.20881	2.04	4.47	4.47	0.54385	.	0.103243	0.38663	N	0.001620	T	0.42585	0.1209	L	0.54323	1.7	0.33321	D	0.567339	D	0.89917	1.0	D	0.76071	0.987	T	0.53092	-0.8487	10	0.87932	D	0	.	17.1195	0.86698	0.0:0.0:1.0:0.0	.	210	Q9Y6R7	FCGBP_HUMAN	L	210	ENSP00000221347:S210L	ENSP00000221347:S210L	S	-	2	0	FCGBP	45125480	1.000000	0.71417	0.814000	0.32528	0.024000	0.10985	8.277000	0.89896	2.775000	0.95449	0.655000	0.94253	TCG		0.542	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		9	75	0	0	0	0.361761	0	9	75					A	40433640	G	A	40433640	3	1	393	1	0	0	0	0	1	0	0	0	5778	1059	37	1	15728	1	FCGBP	19	40433640	Missense_Mutation	SNP	G	TCGA-ET-A3DU-01A-11D-A19J-08		40433640	18695343	18	8134											
ZGPAT	84619	broad.mit.edu	37	chr20	62340073	62340073	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ggggacctgaaggagctcatCgagctcaccgaggccagcct	14	13	2	1			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr20:62340073C>G	ENST00000328969.5	+	2	268	c.141C>G	c.(139-141)atC>atG	p.I47M	RP4-583P15.15_ENST00000490623.2_5'Flank|ARFRP1_ENST00000324228.2_5'Flank|ZGPAT_ENST00000355969.6_Missense_Mutation_p.I47M|ARFRP1_ENST00000609142.1_5'Flank|ARFRP1_ENST00000607873.1_5'Flank|ZGPAT_ENST00000357119.4_Missense_Mutation_p.I47M|ARFRP1_ENST00000359715.5_5'Flank|ARFRP1_ENST00000440854.1_5'Flank|ZGPAT_ENST00000369967.3_Missense_Mutation_p.I47M|ZGPAT_ENST00000448100.2_Missense_Mutation_p.I47M	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	47					negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|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)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					AGGAGCTCATCGAGCTCACCG	0.672																																						ENST00000328969.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14						c.(139-141)atC>atG		zinc finger, CCCH-type with G patch domain							40	43	42					20																	62340073		2203	4299	6502	SO:0001583	missense	84619				negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62340073C>G	AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"Zinc fingers, CCCH-type domain containing", "G patch domain containing"	15948	protein-coding gene	gene with protein product			"KIAA1847"	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.141C>G	20.37:g.62340073C>G	ENSP00000332013:p.Ile47Met					ZGPAT_ENST00000448100.1_Missense_Mutation_p.I47M|ZGPAT_ENST00000355969.6_Missense_Mutation_p.I47M|ZGPAT_ENST00000369967.3_Missense_Mutation_p.I47M|ZGPAT_ENST00000357119.4_Missense_Mutation_p.I47M|ZGPAT_ENST00000490623.1_3'UTR	p.I47M	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN			2	268	+	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)		47					E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Missense_Mutation	SNP	ENST00000328969.5	37	c.141C>G	CCDS13534.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753731	0.69648	.	.	ENSG00000197114	ENST00000448100;ENST00000355969;ENST00000357119;ENST00000431125;ENST00000369967;ENST00000328969	T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03	4.21	-0.368	0.12537	.	0.000000	0.85682	D	0.000000	T	0.62319	0.2418	M	0.90425	3.115	0.44587	D	0.997559	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.61118	-0.7127	10	0.87932	D	0	13.8711	5.0635	0.14570	0.1697:0.4752:0.0:0.3551	.	47;47;47	Q8N5A5-3;Q8N5A5;Q8N5A5-2	.;ZGPAT_HUMAN;.	M	47	ENSP00000391176:I47M;ENSP00000348242:I47M;ENSP00000349634:I47M;ENSP00000403966:I47M;ENSP00000358984:I47M;ENSP00000332013:I47M	ENSP00000332013:I47M	I	+	3	3	ZGPAT	61810517	0.921000	0.31238	0.996000	0.52242	0.993000	0.82548	0.029000	0.13666	0.180000	0.19960	0.561000	0.74099	ATC		0.672	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080214.1	NM_181484		7	64	0	0	0	0.307466	0	7	64					G	62340073	C	G	62340073	3	3	393	1	0	0	0	0	1	0	0	0	17671	874	31	4	143	4	ZGPAT	20	62340073	Missense_Mutation	SNP	C	TCGA-ET-A3DU-01A-11D-A19J-08		62340073	685447	19	8135											
PLP1	5354	broad.mit.edu	37	chrX	103042822	103042822	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacttcaacacctggaccacCtgccagtctattgccttccc	5	17	2	0	rs184166250		TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chrX:103042822C>T	ENST00000303958.2	+	4	695	c.549C>T	c.(547-549)acC>acT	p.T183T	PLP1_ENST00000361621.2_Silent_p.T148T|PLP1_ENST00000466486.1_3'UTR|PLP1_ENST00000418604.1_Silent_p.T183T	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1	183			T -> N (in HLD1). {ECO:0000269|PubMed:10417279}.		astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						CCTGGACCACCTGCCAGTCTA	0.527																																						ENST00000418604.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						c.(547-549)acC>acT		proteolipid protein 1							205	146	166					X																	103042822		2203	4300	6503	SO:0001819	synonymous_variant	5354				cell death|synaptic transmission	integral to membrane		g.chrX:103042822C>T	M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"Pelizaeus-Merzbacher disease"	300401	"spastic paraplegia 2, uncomplicated"	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.549C>T	X.37:g.103042822C>T						PLP1_ENST00000466486.1_3'UTR|PLP1_ENST00000303958.2_Silent_p.T183T|PLP1_ENST00000361621.2_Silent_p.T148T	p.T183T	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN			5	829	+			183		T -> N (in HLD1).			P04400|P06905|Q502Y1|Q6FHZ6	Silent	SNP	ENST00000303958.2	37	c.549C>T	CCDS14513.1																																																																																				0.527	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057743.2			33	92	0	0	0	0.769981	0	33	92					T	103042822	C	T	103042822	2	4	393	1	0	0	0	0	0	0	0	1	12104	668	24	2		2	PLP1	23	103042822	Silent	SNP	C	TCGA-ET-A3DU-01A-11D-A19J-08		103042822	52227738	20	8136											
TP73	7161	broad.mit.edu	37	chr1	3624240	3624240	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacgcacaacccagctccaCcttcgacaccatgtcgccgg	7	19	0	0			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr1:3624240C>T	ENST00000378295.4	+	4	469	c.314C>T	c.(313-315)aCc>aTc	p.T105I	TP73_ENST00000378290.4_Missense_Mutation_p.T34I|TP73_ENST00000346387.4_Missense_Mutation_p.T105I|TP73_ENST00000378288.4_Missense_Mutation_p.T56I|TP73_ENST00000604074.1_Missense_Mutation_p.T105I|TP73_ENST00000378280.1_Missense_Mutation_p.T56I|TP73_ENST00000604479.1_Missense_Mutation_p.T105I|TP73_ENST00000354437.4_Missense_Mutation_p.T105I|TP73_ENST00000357733.3_Missense_Mutation_p.T105I|TP73_ENST00000378285.1_Missense_Mutation_p.T56I|TP73_ENST00000603362.1_Missense_Mutation_p.T105I	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	105					activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CCCAGCTCCACCTTCGACACC	0.672																																						ENST00000378295.4																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20						c.(313-315)aCc>aTc		tumor protein p73							72	70	71					1																	3624240		2203	4300	6503	SO:0001583	missense	7161				cellular response to UV|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|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity	g.chr1:3624240C>T	AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.314C>T	1.37:g.3624240C>T	ENSP00000367545:p.Thr105Ile					TP73_ENST00000604479.1_Missense_Mutation_p.T105I|TP73_ENST00000378280.1_Missense_Mutation_p.T56I|TP73_ENST00000354437.4_Missense_Mutation_p.T105I|TP73_ENST00000604074.1_Missense_Mutation_p.T105I|TP73_ENST00000378285.1_Missense_Mutation_p.T56I|TP73_ENST00000603362.1_Missense_Mutation_p.T105I|TP73_ENST00000378288.4_Missense_Mutation_p.T56I|TP73_ENST00000378290.4_Missense_Mutation_p.T34I|TP73_ENST00000357733.3_Missense_Mutation_p.T105I|TP73_ENST00000346387.4_Missense_Mutation_p.T105I	p.T105I	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)	4	469	+	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)	105					B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Missense_Mutation	SNP	ENST00000378295.4	37	c.314C>T	CCDS49.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016434	0.75161	.	.	ENSG00000078900	ENST00000378295;ENST00000354437;ENST00000357733;ENST00000346387;ENST00000378288;ENST00000378285;ENST00000378280;ENST00000378290	D;D;D;D;D;D;D;D	0.99515	-5.9;-6.05;-5.75;-5.83;-5.89;-6.06;-6.04;-5.91	4.6	3.67	0.42095	.	0.000000	0.85682	D	0.000000	D	0.99227	0.9731	L	0.57536	1.79	0.58432	D	0.999995	D;D;D;D;D;D;D	0.89917	0.996;0.997;0.999;1.0;0.998;1.0;0.997	D;D;D;D;D;D;D	0.97110	0.995;0.996;0.999;0.999;0.998;1.0;0.997	D	0.98883	1.0770	10	0.45353	T	0.12	-39.0669	13.1061	0.59247	0.1614:0.8386:0.0:0.0	.	56;34;56;56;56;105;105	B7Z8Z1;B7Z7J4;O15350-10;O15350-9;O15350-8;O15350-2;O15350	.;.;.;.;.;.;P73_HUMAN	I	105;105;105;105;56;56;56;34	ENSP00000367545:T105I;ENSP00000346423:T105I;ENSP00000350366:T105I;ENSP00000340740:T105I;ENSP00000367537:T56I;ENSP00000367534:T56I;ENSP00000367529:T56I;ENSP00000367539:T34I	ENSP00000340740:T105I	T	+	2	0	TP73	3614100	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.671000	0.83941	0.906000	0.36621	0.491000	0.48974	ACC		0.672	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001468.4	NM_005427		36	53	0	0	0	0.005524	0	36	53					T	3624240	C	T	3624240	3	4	394	1	0	0	0	0	1	0	0	0	16390	507	18	2	367	2	TP73	1	3624240	Missense_Mutation	SNP	C	TCGA-ET-A3DV-01A-12D-A202-08		3624240	245626381	1	8137											
ZZZ3	26009	broad.mit.edu	37	chr1	78097775	78097775	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaggagattgacttacaTtatcactaacagttgcattt	7	6	1	2			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr1:78097775T>A	ENST00000370801.3	-	5	1740	c.1265A>T	c.(1264-1266)aAt>aTt	p.N422I	ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	422					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TTGACTTACATTATCACTAAC	0.343																																						ENST00000370801.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						c.(1264-1266)aAt>aTt		zinc finger, ZZ-type containing 3							95	90	91					1																	78097775		2203	4300	6503	SO:0001583	missense	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78097775T>A	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"Zinc fingers, ZZ-type"	24523	protein-coding gene	gene with protein product	"ATAC component 1 homolog (Drosophila)"					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.1265A>T	1.37:g.78097775T>A	ENSP00000359837:p.Asn422Ile					ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Intron	p.N422I	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN			5	1740	-			422					B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	c.1265A>T	CCDS677.1	.	.	.	.	.	.	.	.	.	.	T	5.168	0.216492	0.09810	.	.	ENSG00000036549	ENST00000370801	.	.	.	5.64	3.15	0.36227	.	0.247523	0.39909	N	0.001235	T	0.16257	0.0391	N	0.22421	0.69	0.80722	D	1	P;B;B	0.45474	0.859;0.306;0.432	B;B;B	0.37304	0.246;0.08;0.165	T	0.02288	-1.1182	8	.	.	.	.	12.4923	0.55907	0.0:0.0:0.3976:0.6024	.	422;422;422	Q8IYH5-4;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	I	422	.	.	N	-	2	0	ZZZ3	77870363	0.997000	0.39634	0.991000	0.47740	0.329000	0.28539	1.036000	0.30228	1.066000	0.40716	0.533000	0.62120	AAT		0.343	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		4	86	0	0	0	0.000602	0	4	86					A	78097775	T	A	78097775	3	1	394	1	0	0	0	0	1	0	0	0	18253	1493	52	5	1490	5	ZZZ3	1	78097775	Missense_Mutation	SNP	T	TCGA-ET-A3DV-01A-12D-A202-08	74473535	78097775	171152846	2	8138											
CR2	1380	broad.mit.edu	37	chr1	207643143	207643143	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacttacacttgtgacccGgacccagaggaaggagtgaa	12	10	1	3			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr1:207643143G>A	ENST00000367058.3	+	6	1110	c.921G>A	c.(919-921)ccG>ccA	p.P307P	CR2_ENST00000367059.3_Silent_p.P307P|CR2_ENST00000367057.3_Silent_p.P307P|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Silent_p.P307P	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	307	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CTTGTGACCCGGACCCAGAGG	0.488																																						ENST00000367057.3																			0				NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(919-921)ccG>ccA		complement component (3d/Epstein Barr virus) receptor 2							105	95	98					1																	207643143		2203	4300	6503	SO:0001819	synonymous_variant	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207643143G>A	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"CD molecules", "Complement system"	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.921G>A	1.37:g.207643143G>A						CR2_ENST00000458541.2_Silent_p.P307P|CR2_ENST00000367059.3_Silent_p.P307P|CR2_ENST00000367058.3_Silent_p.P307P|CR2_ENST00000485707.1_3'UTR	p.P307P	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN			6	1110	+			307			Sushi 5.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Silent	SNP	ENST00000367058.3	37	c.921G>A	CCDS1478.1																																																																																				0.488	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		4	98	0	0	0	0.009096	0	4	98					A	207643143	G	A	207643143	2	1	394	1	0	0	0	0	0	0	0	1	3842	1103	39	1		1	CR2	1	207643143	Silent	SNP	G	TCGA-ET-A3DV-01A-12D-A202-08	129545368	207643143	41607478	3	8139											
SLA	6503	broad.mit.edu	37	chr8	134072405	134072408	+	Start_Codon_Del	DEL	TTTC	TTTC	-													ggatttcatgctgtttcccaTttctttctttttccctgggg							TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr8:134072405_134072408delTTTC	ENST00000338087.5	-	0	817_820				SLA_ENST00000427060.2_Frame_Shift_Del_p.EM40fs|SLA_ENST00000518565.1_5'UTR|TG_ENST00000542445.1_Intron|TG_ENST00000220616.4_Intron|TG_ENST00000519543.1_Intron|SLA_ENST00000395352.3_Frame_Shift_Del_p.EM17fs|SLA_ENST00000517648.1_Frame_Shift_Del_p.EM17fs|TG_ENST00000377869.1_Intron|SLA_ENST00000524345.1_Intron	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor						positive regulation of signal transduction (GO:0009967)	endosome (GO:0005768)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			CTGTTTCCCATTTCTTTCTTTTTC	0.578																																						ENST00000395352.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17						c.(49-54)tgfs		Src-like-adaptor																																				SO:0001582	initiator_codon_variant	6503					endosome	SH3/SH2 adaptor activity	g.chr8:134072405_134072408delTTTC		CCDS6370.1, CCDS47922.1, CCDS47923.1, CCDS64977.1, CCDS64978.1	8q24.22	2013-09-19	2001-11-28		ENSG00000155926	ENSG00000155926		"SH2 domain containing"	10902	protein-coding gene	gene with protein product		601099	"Src-like-adapter"			8825655, 11179692	Standard	NM_001045556		Approved	SLA1	uc011ljd.2	Q13239	OTTHUMG00000164439		8.37:g.134072409_134072412delTTTC						SLA_ENST00000518565.1_5'UTR|SLA_ENST00000338087.5_Start_Codon_Del|SLA_ENST00000517648.1_Frame_Shift_Del_p.EM17fs|SLA_ENST00000427060.2_Frame_Shift_Del_p.EM40fs|TG_ENST00000542445.1_Intron|TG_ENST00000220616.4_Intron|SLA_ENST00000524345.1_Intron|TG_ENST00000377869.1_Intron|TG_ENST00000519543.1_Intron	p.EM17fs	NM_001045557.2	NP_001039022.2	Q13239	SLAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)		2	397_400	-	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	0					B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8	Frame_Shift_Del	DEL	ENST00000338087.5	37	c.49_52delGAAA	CCDS6370.1																																																																																				0.578	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378771.1			55	83						55	83	---	---	---	---	-	134072408	TTTC	-	134072405	7	5	394	1	0	1	0	1	0	0	0	0	14363	1493	52	0	857	0	SLA	8	134072405	Start_Codon_Del	DEL	TTTC	TCGA-ET-A3DV-01A-12D-A202-08		134072405	12291617	4	8140											
ZNF462	58499	broad.mit.edu	37	chr9	109687520	109687520	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaataggttccagtgccccTtttgtcctttcctcaccatg	7	13	1	1			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr9:109687520T>C	ENST00000277225.5	+	3	1616	c.1327T>C	c.(1327-1329)Ttt>Ctt	p.F443L	ZNF462_ENST00000457913.1_Missense_Mutation_p.F443L|ZNF462_ENST00000441147.2_5'Flank			Q96JM2	ZN462_HUMAN	zinc finger protein 462	443					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CCAGTGCCCCTTTTGTCCTTT	0.463																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1327-1329)Ttt>Ctt		zinc finger protein 462							147	142	144					9																	109687520		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109687520T>C	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.1327T>C	9.37:g.109687520T>C	ENSP00000277225:p.Phe443Leu					ZNF462_ENST00000457913.1_Missense_Mutation_p.F443L	p.F443L			Q96JM2	ZN462_HUMAN			3	1616	+			443					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.1327T>C	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	T	17.01	3.279775	0.59758	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.05649	3.41;3.87	5.73	5.73	0.89815	Zinc finger, C2H2-like (1);	0.095596	0.85682	D	0.000000	T	0.06416	0.0165	N	0.19112	0.55	0.80722	D	1	P;P	0.40534	0.72;0.643	B;B	0.42188	0.261;0.379	T	0.53063	-0.8491	9	.	.	.	.	14.5926	0.68378	0.0:0.0:0.0:1.0	.	443;443	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	L	443	ENSP00000277225:F443L;ENSP00000414570:F443L	.	F	+	1	0	ZNF462	108727341	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.619000	0.83057	2.188000	0.69820	0.459000	0.35465	TTT		0.463	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		3	126	0	0	0	0.004672	0	3	126					C	109687520	T	C	109687520	3	2	394	1	0	0	0	0	1	0	0	0	17923	1609	56	3	1333	3	ZNF462	9	109687520	Missense_Mutation	SNP	T	TCGA-ET-A3DV-01A-12D-A202-08		109687520	31525911	5	8141											
RABGAP1	23637	broad.mit.edu	37	chr9	125863904	125863904	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacaaagaagggcgtgtaaaAggcataagctcaaccaagga	11	7	1	1			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr9:125863904A>G	ENST00000373647.4	+	25	3083	c.2949A>G	c.(2947-2949)aaA>aaG	p.K983K	RABGAP1_ENST00000373643.5_Silent_p.K322K	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	983					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						GGCGTGTAAAAGGCATAAGCT	0.448																																						ENST00000373647.4																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(2947-2949)aaA>aaG		RAB GTPase activating protein 1							92	84	87					9																	125863904		2203	4300	6503	SO:0001819	synonymous_variant	23637				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	g.chr9:125863904A>G	AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"rab6 GTPase activating protein (GAP and centrosome-associated)", "TBC1 domain family, member 11"	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.2949A>G	9.37:g.125863904A>G						RABGAP1_ENST00000373643.5_Silent_p.K322K	p.K983K	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN			25	3083	+			983					B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Silent	SNP	ENST00000373647.4	37	c.2949A>G	CCDS6848.2																																																																																				0.448	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		3	68	0	0	0	0.004672	0	3	68					G	125863904	A	G	125863904	2	3	394	1	0	0	0	0	0	0	0	1	12964	69	3	3		3	RABGAP1	9	125863904	Silent	SNP	A	TCGA-ET-A3DV-01A-12D-A202-08	16176384	125863904	15349527	6	8142											
LDB3	11155	broad.mit.edu	37	chr10	88441198	88441198	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgccctgtgccaggacccCgctctggacacgaacggcag	12	17	1	0			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr10:88441198C>T	ENST00000361373.4	+	4	348	c.327C>T	c.(325-327)ccC>ccT	p.P109P	LDB3_ENST00000310944.6_Silent_p.P109P|LDB3_ENST00000458213.2_Intron|LDB3_ENST00000372056.4_Silent_p.P109P|LDB3_ENST00000429277.2_Silent_p.P109P|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000542786.1_Silent_p.P109P|LDB3_ENST00000372066.3_Intron|LDB3_ENST00000263066.6_Intron	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						GCCAGGACCCCGCTCTGGACA	0.677																																						ENST00000429277.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						c.(325-327)ccC>ccT		LIM domain binding 3							51	59	56					10																	88441198		2202	4297	6499	SO:0001819	synonymous_variant	11155					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	g.chr10:88441198C>T	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"cypher", "oracle", "Z-band alternatively spliced PDZ motif protein"	605906	"cardiomyopathy, dilated 1C (autosomal dominant)"	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.327C>T	10.37:g.88441198C>T						LDB3_ENST00000310944.6_Silent_p.P109P|LDB3_ENST00000542786.1_Silent_p.P109P|LDB3_ENST00000372056.4_Silent_p.P109P|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000361373.4_Silent_p.P109P|LDB3_ENST00000458213.2_Intron|LDB3_ENST00000372066.3_Intron|LDB3_ENST00000263066.6_Intron	p.P109P	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN			5	472	+			109						Silent	SNP	ENST00000361373.4	37	c.327C>T	CCDS7377.1																																																																																				0.677	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2			4	183	0	0	0	0.001168	0	4	183					T	88441198	C	T	88441198	2	4	394	1	0	0	0	0	0	0	0	1	8697	639	23	1		1	LDB3	10	88441198	Silent	SNP	C	TCGA-ET-A3DV-01A-12D-A202-08		88441198	47093549	7	8143											
FAM35A	54537	broad.mit.edu	37	chr10	88911225	88911225	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttgctgacccctggaaaaaAattcagcttttatacagtca	7	9	2	1			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr10:88911225A>T	ENST00000298784.1	+	3	228	c.114A>T	c.(112-114)aaA>aaT	p.K38N	RN7SL733P_ENST00000582253.1_RNA|FAM35A_ENST00000298786.4_Missense_Mutation_p.K38N	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	38										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						CCTGGAAAAAAATTCAGCTTT	0.373																																					Ovarian(175;703 2004 25460 32514 43441)	ENST00000298786.4																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						c.(112-114)aaA>aaT		family with sequence similarity 35, member A							22	24	24					10																	88911225		2187	4284	6471	SO:0001583	missense	54537							g.chr10:88911225A>T	BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.114A>T	10.37:g.88911225A>T	ENSP00000298784:p.Lys38Asn					FAM35A_ENST00000298784.1_Missense_Mutation_p.K38N	p.K38N			Q86V20	FA35A_HUMAN			3	228	+			38					O95885|Q9H991	Missense_Mutation	SNP	ENST00000298784.1	37	c.114A>T	CCDS7383.1	.	.	.	.	.	.	.	.	.	.	a	13.53	2.263666	0.39995	.	.	ENSG00000122376	ENST00000298786;ENST00000298784;ENST00000358313	T;T;T	0.24723	1.84;1.85;1.85	4.07	-0.965	0.10323	.	0.497156	0.16521	N	0.210802	T	0.29976	0.0750	L	0.50333	1.59	0.09310	N	1	D	0.61697	0.99	P	0.54174	0.744	T	0.14727	-1.0462	10	0.51188	T	0.08	-5.8079	7.699	0.28611	0.6289:0.0:0.3711:0.0	.	38	Q86V20	FA35A_HUMAN	N	38	ENSP00000298786:K38N;ENSP00000298784:K38N;ENSP00000351064:K38N	ENSP00000298784:K38N	K	+	3	2	FAM35A	88901205	0.003000	0.15002	0.010000	0.14722	0.122000	0.20287	0.174000	0.16743	-0.378000	0.07918	-0.540000	0.04249	AAA		0.373	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054		21	16	0	0	0	0.010504	0	21	16					T	88911225	A	T	88911225	3	4	394	1	0	0	0	0	1	0	0	0	5553	11	1	5	116	5	FAM35A	10	88911225	Missense_Mutation	SNP	A	TCGA-ET-A3DV-01A-12D-A202-08	470027	88911225	46623522	8	8144											
PPP2R1B	5519	broad.mit.edu	37	chr11	111625705	111625705	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataaattgaactccttaaccTtttactttgtgggcagcagc	7	9	0	1			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr11:111625705T>C	ENST00000527614.1	-	7	1022	c.957A>G	c.(955-957)aaA>aaG	p.K319K	PPP2R1B_ENST00000427203.2_Splice_Site_p.K158K|PPP2R1B_ENST00000426998.2_Splice_Site_p.K255K|PPP2R1B_ENST00000311129.5_Splice_Site_p.K319K|PPP2R1B_ENST00000393055.2_Splice_Site_p.K192K|PPP2R1B_ENST00000341980.6_Splice_Site_p.K319K	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	319					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		CTCCTTAACCTTTTACTTTGT	0.383																																						ENST00000527614.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22						c.e7+1		protein phosphatase 2, regulatory subunit A, beta							76	78	78					11																	111625705		2201	4297	6498	SO:0001630	splice_region_variant	5519						protein binding	g.chr11:111625705T>C	AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9303	protein-coding gene	gene with protein product	"PP2A-A-beta", "protein phosphatase 2A, regulatory subunit A, beta isoform"	603113	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.958+1A>G	11.37:g.111625705T>C						PPP2R1B_ENST00000427203.2_Splice_Site_p.K158_splice|PPP2R1B_ENST00000426998.2_Splice_Site_p.K255_splice|PPP2R1B_ENST00000311129.5_Splice_Site_p.K319_splice|PPP2R1B_ENST00000341980.6_Splice_Site_p.K319_splice|PPP2R1B_ENST00000393055.2_Splice_Site_p.K192_splice	p.K319_splice	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)	7	1022	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	319					A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Splice_Site	SNP	ENST00000527614.1	37	c.958_splice	CCDS8349.1	.	.	.	.	.	.	.	.	.	.	T	15.40	2.823141	0.50739	.	.	ENSG00000137713	ENST00000531890	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	T	0.70465	0.3227	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69647	-0.5089	4	.	.	.	-17.5699	14.0143	0.64515	0.0:0.0:0.0:1.0	.	.	.	.	G	20	.	.	R	-	1	2	PPP2R1B	111130915	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.915000	0.69973	2.195000	0.70347	0.533000	0.62120	AGA		0.383	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1	NM_002716	Silent	3	80	0	0	0	0.009096	0	3	80					C	111625705	T	C	111625705	5	2	394	1	0	0	0	0	0	0	1	0	12383	1623	56	3	1107	3	PPP2R1B	11	111625705	Splice_Site	SNP	T	TCGA-ET-A3DV-01A-12D-A202-08		111625705	23380811	9	8145											
TRIM13	10206	broad.mit.edu	37	chr13	50586828	50586828	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acccattgtatttctgcaacAgatgcaggagtttagagaga	10	7	1	3			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr13:50586828A>G	ENST00000378182.3	+	2	1490	c.752A>G	c.(751-753)cAg>cGg	p.Q251R	TRIM13_ENST00000356017.4_Missense_Mutation_p.Q254R|TRIM13_ENST00000298772.5_Missense_Mutation_p.Q254R|TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000457662.2_Missense_Mutation_p.Q251R|KCNRG_ENST00000312942.1_5'Flank|TRIM13_ENST00000420995.2_Missense_Mutation_p.Q251R|KCNRG_ENST00000360473.4_5'Flank	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	251					anatomical structure morphogenesis (GO:0009653)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell death (GO:0010942)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macroautophagy (GO:0016239)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		TTTCTGCAACAGATGCAGGAG	0.413																																						ENST00000378182.3																			0				large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(751-753)cAg>cGg		tripartite motif containing 13							81	81	81					13																	50586828		2203	4300	6503	SO:0001583	missense	10206				anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr13:50586828A>G	AF220127	CCDS9423.1, CCDS41888.1	13q14	2013-01-09	2011-01-25	2006-09-26	ENSG00000204977	ENSG00000204977		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9976	protein-coding gene	gene with protein product		605661	"ret finger protein 2", "tripartite motif-containing 13"	RFP2		9599022	Standard	NM_213590		Approved	Leu5, RNF77, DLEU5	uc001vdp.1	O60858	OTTHUMG00000016926	ENST00000378182.3:c.752A>G	13.37:g.50586828A>G	ENSP00000367424:p.Gln251Arg					TRIM13_ENST00000356017.4_Missense_Mutation_p.Q254R|TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000457662.2_Missense_Mutation_p.Q251R|TRIM13_ENST00000298772.5_Missense_Mutation_p.Q254R|TRIM13_ENST00000420995.2_Missense_Mutation_p.Q251R	p.Q251R	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)	2	1490	+		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	251					B2RB49|Q5UBW0|Q5W0U8|Q5W0U9|Q9BQ47|Q9C021	Missense_Mutation	SNP	ENST00000378182.3	37	c.752A>G	CCDS9423.1	.	.	.	.	.	.	.	.	.	.	A	12.52	1.962658	0.34659	.	.	ENSG00000204977	ENST00000378183;ENST00000420995;ENST00000378182;ENST00000356017;ENST00000457662;ENST00000298772	T;T;T;T;T;T	0.25749	2.31;1.78;1.78;2.32;1.78;2.32	5.61	5.61	0.85477	.	0.056002	0.64402	D	0.000001	T	0.20129	0.0484	N	0.20986	0.625	0.49130	D	0.999759	P;P	0.39759	0.56;0.687	B;B	0.39503	0.092;0.301	T	0.03651	-1.1016	9	.	.	.	-4.5557	15.7868	0.78310	1.0:0.0:0.0:0.0	.	251;254	O60858;O60858-3	TRI13_HUMAN;.	R	251;251;251;254;251;254	ENSP00000367425:Q251R;ENSP00000412943:Q251R;ENSP00000367424:Q251R;ENSP00000348299:Q254R;ENSP00000399206:Q251R;ENSP00000298772:Q254R	.	Q	+	2	0	TRIM13	49484829	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.848000	0.69458	2.119000	0.64992	0.533000	0.62120	CAG		0.413	TRIM13-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354875.1	NM_001007278		6	127	0	0	0	0.001984	0	6	127					G	50586828	A	G	50586828	3	3	394	1	0	0	0	0	1	0	0	0	16485	188	7	3	767	3	TRIM13	13	50586828	Missense_Mutation	SNP	A	TCGA-ET-A3DV-01A-12D-A202-08		50586828	64583050	10	8146											
MYCBP2	23077	broad.mit.edu	37	chr13	77740543	77740543	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atccatgaattaagattttcAtgaacagatgtcaattttgg	7	5	2	4			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr13:77740543A>T	ENST00000544440.2	-	41	6164	c.6147T>A	c.(6145-6147)caT>caA	p.H2049Q	MYCBP2_ENST00000407578.2_Missense_Mutation_p.H2087Q|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.H2049Q					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TAAGATTTTCATGAACAGATG	0.383																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(6259-6261)caT>caA		MYC binding protein 2, E3 ubiquitin protein ligase							84	84	84					13																	77740543		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77740543A>T	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.6147T>A	13.37:g.77740543A>T	ENSP00000444596:p.His2049Gln					MYCBP2_ENST00000357337.6_Missense_Mutation_p.H2049Q|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.H2049Q	p.H2087Q	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	41	6527	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	2049						Missense_Mutation	SNP	ENST00000544440.2	37	c.6261T>A		.	.	.	.	.	.	.	.	.	.	A	14.76	2.630698	0.46944	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.27104	1.69;1.69;1.69	5.79	2.0	0.26442	.	0.000000	0.85682	D	0.000000	T	0.29190	0.0726	N	0.22421	0.69	0.48288	D	0.999622	P	0.50156	0.932	D	0.63703	0.917	T	0.01608	-1.1313	10	0.26408	T	0.33	.	9.8029	0.40775	0.8019:0.0:0.1981:0.0	.	2049	O75592	MYCB2_HUMAN	Q	2049;2087;2049	ENSP00000349892:H2049Q;ENSP00000384288:H2087Q;ENSP00000444596:H2049Q	ENSP00000349892:H2049Q	H	-	3	2	MYCBP2	76638544	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.072000	0.30678	0.466000	0.27193	0.528000	0.53228	CAT		0.383	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		5	72	0	0	0	0.000602	0	5	72					T	77740543	A	T	77740543	3	4	394	1	0	0	0	0	1	0	0	0	10018	214	8	5	7947	5	MYCBP2	13	77740543	Missense_Mutation	SNP	A	TCGA-ET-A3DV-01A-12D-A202-08	27153715	77740543	37429335	11	8147											
PNN	5411	broad.mit.edu	37	chr14	39650419	39650419	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccagcctccctctcagccTgaggatttgtcattagctgt	8	14	2	1			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr14:39650419T>C	ENST00000216832.4	+	9	1573	c.1506T>C	c.(1504-1506)ccT>ccC	p.P502P	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	502	Gln-rich.				cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		CCTCTCAGCCTGAGGATTTGT	0.517																																						ENST00000216832.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27						c.(1504-1506)ccT>ccC		pinin, desmosome associated protein							91	93	93					14																	39650419		2203	4300	6503	SO:0001819	synonymous_variant	5411				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity	g.chr14:39650419T>C	U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.1506T>C	14.37:g.39650419T>C						PNN_ENST00000557680.1_Intron	p.P502P	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)	9	1573	+	Hepatocellular(127;0.213)		502			Gln-rich.		B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Silent	SNP	ENST00000216832.4	37	c.1506T>C	CCDS9671.1																																																																																				0.517	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276776.2	NM_002687		3	131	0	0	0	0.009096	0	3	131					C	39650419	T	C	39650419	2	2	394	1	0	0	0	0	0	0	0	1	12160	1567	55	3		3	PNN	14	39650419	Silent	SNP	T	TCGA-ET-A3DV-01A-12D-A202-08		39650419	67699121	12	8148											
NOX5	79400	broad.mit.edu	37	chr15	69349008	69349008	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggccattgtgagaagttcgGcttcagatttttccaagaga	12	7	1	3			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr15:69349008G>T	ENST00000388866.3	+	16	2311	c.2270G>T	c.(2269-2271)gGc>gTc	p.G757V	NOX5_ENST00000530406.2_Missense_Mutation_p.G729V|NOX5_ENST00000448182.3_Missense_Mutation_p.G711V|NOX5_ENST00000455873.3_Missense_Mutation_p.G722V|NOX5_ENST00000260364.5_Missense_Mutation_p.G739V	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	757					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GAGAAGTTCGGCTTCAGATTT	0.517																																						ENST00000260364.5																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(2215-2217)gGc>gTc		NADPH oxidase, EF-hand calcium binding domain 5							78	75	76					15																	69349008		2200	4298	6498	SO:0001583	missense	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69349008G>T	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"EF-hand domain containing"	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.2270G>T	15.37:g.69349008G>T	ENSP00000373518:p.Gly757Val					NOX5_ENST00000455873.3_Missense_Mutation_p.G722V|NOX5_ENST00000448182.3_Missense_Mutation_p.G711V|NOX5_ENST00000388866.3_Missense_Mutation_p.G757V|NOX5_ENST00000530406.2_Missense_Mutation_p.G729V	p.G739V			Q96PH1	NOX5_HUMAN			17	2517	+			757					B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Missense_Mutation	SNP	ENST00000388866.3	37	c.2216G>T	CCDS32276.2	.	.	.	.	.	.	.	.	.	.	G	7.635	0.679673	0.14907	.	.	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	T;T;T	0.73575	-0.76;-0.76;-0.76	3.0	1.96	0.26148	.	1.263890	0.05562	U	0.569407	T	0.72078	0.3416	M	0.64170	1.965	0.41562	D	0.988638	P;P;P	0.43477	0.773;0.808;0.741	B;B;B	0.41988	0.3;0.206;0.372	T	0.64305	-0.6439	10	0.62326	D	0.03	.	5.1776	0.15143	0.4452:0.0:0.5548:0.0	.	722;757;729	Q96PH1-6;Q96PH1;Q96PH1-3	.;NOX5_HUMAN;.	V	722;739;757;729	ENSP00000416828:G722V;ENSP00000373518:G757V;ENSP00000432440:G729V	ENSP00000373518:G757V	G	+	2	0	NOX5	67136062	0.931000	0.31567	0.104000	0.21259	0.011000	0.07611	1.381000	0.34362	0.363000	0.24346	0.505000	0.49811	GGC		0.517	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		48	36	1	0	1.56793e-16	0.01441	2.27602e-16	48	36					T	69349008	G	T	69349008	3	4	394	1	0	0	0	0	1	0	0	0	10559	1203	42	4	2365	4	NOX5	15	69349008	Missense_Mutation	SNP	G	TCGA-ET-A3DV-01A-12D-A202-08		69349008	33182384	13	8149											
IRX6	79190	broad.mit.edu	37	chr16	55363139	55363139	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggaaaccccaagtttgccCtgcagggactaccgctgaac	10	13	0	1			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr16:55363139C>T	ENST00000290552.7	+	5	2581	c.1249C>T	c.(1249-1251)Ctg>Ttg	p.L417L	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	417					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CAAGTTTGCCCTGCAGGGACT	0.642																																						ENST00000290552.7																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(1249-1251)Ctg>Ttg		iroquois homeobox 6							54	61	59					16																	55363139		2198	4300	6498	SO:0001819	synonymous_variant	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55363139C>T	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"Homeoboxes / TALE class"	14675	protein-coding gene	gene with protein product		606196	"iroquois homeobox protein 7", "iroquois homeobox protein 6"	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.1249C>T	16.37:g.55363139C>T						RP11-26L20.3_ENST00000558730.2_RNA	p.L417L	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN			5	2581	+			417					B2RN06|Q7Z2K0	Silent	SNP	ENST00000290552.7	37	c.1249C>T	CCDS32449.1																																																																																				0.642	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		8	140	0	0	0	0.008291	0	8	140					T	55363139	C	T	55363139	2	4	394	1	0	0	0	0	0	0	0	1	7848	680	24	2		2	IRX6	16	55363139	Silent	SNP	C	TCGA-ET-A3DV-01A-12D-A202-08		55363139	34991614	14	8150											
GZMM	3004	broad.mit.edu	37	chr19	547312	547312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacccagatcatcgggggcCgggaggtgatcccccactcg	15	14	1	2	rs373840917		TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr19:547312C>T	ENST00000264553.3	+	2	126	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W		NM_001258351.1|NM_005317.3	NP_001245280.1|NP_005308	P51124	GRAM_HUMAN	granzyme M (lymphocyte met-ase 1)	30	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|membrane (GO:0016020)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(1)|prostate(1)	3		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CATCGGGGGCCGGGAGGTGAT	0.647																																						ENST00000264553.3																			0				endometrium(1)|large_intestine(1)|prostate(1)	3						c.(88-90)Cgg>Tgg		granzyme M (lymphocyte met-ase 1)		C	TRP/ARG	0,4406		0,0,2203	53	56	55		88	1.4	0.0	19		55	1,8597	1.2+/-3.3	0,1,4298	no	missense	GZMM	NM_005317.2	101	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	30/258	547312	1,13003	2203	4299	6502	SO:0001583	missense	3004				apoptosis|cytolysis|innate immune response|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:547312C>T		CCDS12031.1, CCDS74240.1	19p13.3	2008-07-16				ENSG00000197540			4712	protein-coding gene	gene with protein product	"lymphocyte met-ase 1"	600311				8119738	Standard	NM_005317		Approved	MET1, LMET1	uc002low.2	P51124		ENST00000264553.3:c.88C>T	19.37:g.547312C>T	ENSP00000264553:p.Arg30Trp						p.R30W	NM_001258351.1|NM_005317.3	NP_001245280.1|NP_005308.1	P51124	GRAM_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)	2	126	+		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	30			Peptidase S1.			Missense_Mutation	SNP	ENST00000264553.3	37	c.88C>T	CCDS12031.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.889350	0.52014	0.0	1.16E-4	ENSG00000197540	ENST00000264553	D	0.89552	-2.53	3.64	1.39	0.22231	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.097850	0.03575	U	0.229299	D	0.91882	0.7430	L	0.50333	1.59	0.09310	N	1	D	0.89917	1.0	D	0.75484	0.986	T	0.76157	-0.3062	10	0.59425	D	0.04	.	4.5409	0.12056	0.2367:0.6441:0.0:0.1192	.	30	P51124	GRAM_HUMAN	W	30	ENSP00000264553:R30W	ENSP00000264553:R30W	R	+	1	2	GZMM	498312	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.058000	0.14301	0.303000	0.22785	-0.410000	0.06199	CGG		0.647	GZMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451895.2	NM_005317		78	84	0	0	0	0.01441	0	78	84					T	547312	C	T	547312	3	4	394	1	0	0	0	0	1	0	0	0	6919	643	23	1	94	1	GZMM	19	547312	Missense_Mutation	SNP	C	TCGA-ET-A3DV-01A-12D-A202-08		547312	58581671	15	8151											
ZBTB32	27033	broad.mit.edu	37	chr19	36206734	36206734	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctccagccctaccccaggTaagcccctcgctgtcctgca	7	20	0	0			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr19:36206734T>C	ENST00000392197.2	+	4	1273		c.e4+2		KMT2B_ENST00000341701.1_5'Flank|KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_5'Flank|ZBTB32_ENST00000262630.3_Splice_Site|KMT2B_ENST00000222270.7_5'Flank			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32						DNA repair (GO:0006281)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cytokine production (GO:0001817)|T cell proliferation (GO:0042098)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTACCCCAGGTAAGCCCCTCG	0.617																																						ENST00000392197.2																			0				large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14						c.e4+2		zinc finger and BTB domain containing 32							69	66	67					19																	36206734		2203	4300	6503	SO:0001630	splice_region_variant	27033				DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:36206734T>C	AF130255	CCDS12471.1	19q13.1	2013-01-08			ENSG00000011590	ENSG00000011590		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	16763	protein-coding gene	gene with protein product	"repressor of GATA"	605859				10572087	Standard	XM_005258739		Approved	TZFP, FAZF, FAXF, Rog, ZNF538	uc002oay.3	Q9Y2Y4	OTTHUMG00000048118	ENST00000392197.2:c.955+2T>C	19.37:g.36206734T>C						ZBTB32_ENST00000262630.3_Splice_Site				Q9Y2Y4	ZBT32_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		4	1273	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)							Q8WVP2	Splice_Site	SNP	ENST00000392197.2	37		CCDS12471.1	.	.	.	.	.	.	.	.	.	.	T	16.43	3.120667	0.56613	.	.	ENSG00000011590	ENST00000262630;ENST00000392197	.	.	.	4.86	3.83	0.44106	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.6896	0.28561	0.1872:0.0:0.0:0.8128	.	.	.	.	.	-1	.	.	.	+	.	.	ZBTB32	40898574	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.583000	0.36579	0.858000	0.35431	0.533000	0.62120	.		0.617	ZBTB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109491.3	NM_014383	Intron	3	84	0	0	0	0.004672	0	3	84					C	36206734	T	C	36206734	5	2	394	1	0	0	0	0	0	0	1	0	17532	1652	57	3	963	3	ZBTB32	19	36206734	Splice_Site	SNP	T	TCGA-ET-A3DV-01A-12D-A202-08	35659422	36206734	22922249	16	8152											
ZNF230	7773	broad.mit.edu	37	chr19	44515136	44515136	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatctgaggagtgtggaaaAggcttcactgatagcctaga	12	6	2	3			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr19:44515136A>G	ENST00000429154.2	+	5	1173	c.945A>G	c.(943-945)aaA>aaG	p.K315K		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	315					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(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				AGTGTGGAAAAGGCTTCACTG	0.423																																					GBM(175;914 2069 22996 47111 52600)	ENST00000429154.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22						c.(943-945)aaA>aaG		zinc finger protein 230							143	137	139					19																	44515136		2203	4300	6503	SO:0001819	synonymous_variant	7773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44515136A>G	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"Zinc fingers, C2H2-type", "-"	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.945A>G	19.37:g.44515136A>G							p.K315K	NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN			5	1173	+		Prostate(69;0.0352)	315					O15322|Q504X7|Q86W84|Q9P1U6	Silent	SNP	ENST00000429154.2	37	c.945A>G	CCDS33044.1																																																																																				0.423	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1			3	206	0	0	0	0.004672	0	3	206					G	44515136	A	G	44515136	2	3	394	1	0	0	0	0	0	0	0	1	17781	69	3	3		3	ZNF230	19	44515136	Silent	SNP	A	TCGA-ET-A3DV-01A-12D-A202-08	8308402	44515136	14613847	17	8153											
HIF3A	64344	broad.mit.edu	37	chr19	46815428	46815428	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacccccaggattgcagaaGtggctggctatagtcccgat	11	13	0	1			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr19:46815428G>T	ENST00000377670.4	+	7	812	c.781G>T	c.(781-783)Gtg>Ttg	p.V261L	HIF3A_ENST00000420102.2_Missense_Mutation_p.V210L|HIF3A_ENST00000339613.2_Missense_Mutation_p.V205L|HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000300862.3_Missense_Mutation_p.V259L|HIF3A_ENST00000244303.6_Missense_Mutation_p.V192L|HIF3A_ENST00000472815.1_Missense_Mutation_p.V192L|HIF3A_ENST00000600383.1_Missense_Mutation_p.V192L	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	261	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GATTGCAGAAGTGGCTGGCTA	0.592																																						ENST00000339613.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33						c.(613-615)Gtg>Ttg		hypoxia inducible factor 3, alpha subunit							157	148	151					19																	46815428		2203	4300	6503	SO:0001583	missense	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46815428G>T	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"Basic helix-loop-helix proteins"	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.781G>T	19.37:g.46815428G>T	ENSP00000366898:p.Val261Leu					HIF3A_ENST00000300862.3_Missense_Mutation_p.V259L|HIF3A_ENST00000472815.1_Missense_Mutation_p.V192L|HIF3A_ENST00000420102.2_Missense_Mutation_p.V210L|HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000377670.4_Missense_Mutation_p.V261L|HIF3A_ENST00000600383.1_Missense_Mutation_p.V192L|HIF3A_ENST00000244303.6_Missense_Mutation_p.V192L	p.V205L			Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	7	868	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	261					B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	ENST00000377670.4	37	c.613G>T	CCDS12681.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.361|0.361	-0.939641|-0.939641	0.02322|0.02322	.|.	.|.	ENSG00000124440|ENSG00000124440	ENST00000472815|ENST00000475432;ENST00000244302;ENST00000377670;ENST00000457865;ENST00000414707;ENST00000244303;ENST00000339613;ENST00000457771;ENST00000291300;ENST00000300862;ENST00000420102	.|T;T;T;T;T	.|0.15603	.|2.41;2.41;2.41;2.41;2.41	4.3|4.3	4.3|4.3	0.51218|0.51218	.|PAS fold-3 (1);PAS (3);	.|0.000000	.|0.36101	.|N	.|0.002785	T|T	0.08403|0.08403	0.0209|0.0209	N|N	0.00496|0.00496	-1.435|-1.435	0.36474|0.36474	D|D	0.86741|0.86741	.|B;D;B;P;B;B;B;B	.|0.58620	.|0.024;0.983;0.114;0.515;0.139;0.139;0.276;0.012	.|B;P;B;B;B;B;B;B	.|0.62740	.|0.032;0.906;0.038;0.212;0.065;0.065;0.145;0.02	T|T	0.37150|0.37150	-0.9718|-0.9718	5|10	.|0.02654	.|T	.|1	.|.	9.8229|9.8229	0.40894|0.40894	0.0:0.0:0.7951:0.2049|0.0:0.0:0.7951:0.2049	.|.	.|210;192;259;210;205;261;261;261	.|F5H884;B4DNA2;Q9Y2N7-2;B4DSD9;A8MPQ1;Q9Y2N7;B0M185;E7EWV6	.|.;.;.;.;.;HIF3A_HUMAN;.;.	I|L	233|261;261;261;169;261;192;205;192;205;259;210	.|ENSP00000366898:V261L;ENSP00000244303:V192L;ENSP00000341877:V205L;ENSP00000300862:V259L;ENSP00000407771:V210L	.|ENSP00000244302:V261L	S|V	+|+	2|1	0|0	HIF3A|HIF3A	51507268|51507268	1.000000|1.000000	0.71417|0.71417	0.785000|0.785000	0.31869|0.31869	0.390000|0.390000	0.30446|0.30446	1.094000|1.094000	0.30951|0.30951	2.390000|2.390000	0.81377|0.81377	0.591000|0.591000	0.81541|0.81541	AGT|GTG		0.592	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			9	241	1	0	0.00448238	0.004482	0.00593256	9	241					T	46815428	G	T	46815428	3	4	394	1	0	0	0	0	1	0	0	0	7105	1029	36	4	831	4	HIF3A	19	46815428	Missense_Mutation	SNP	G	TCGA-ET-A3DV-01A-12D-A202-08	2300292	46815428	12313555	18	8154											
ZNF341	84905	broad.mit.edu	37	chr20	32341114	32341114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcctgggcccccctgggcGtcccaaccctggtgggaacg	15	16	0	0	rs567905770		TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr20:32341114G>A	ENST00000375200.1	+	5	991	c.626G>A	c.(625-627)cGt>cAt	p.R209H	ZNF341_ENST00000342427.2_Missense_Mutation_p.R209H	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	209					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(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CCCCCTGGGCGTCCCAACCCT	0.697																																						ENST00000375200.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						c.(625-627)cGt>cAt		zinc finger protein 341							43	36	38					20																	32341114		2201	4298	6499	SO:0001583	missense	84905				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:32341114G>A	AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"Zinc fingers, C2H2-type"	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.626G>A	20.37:g.32341114G>A	ENSP00000364346:p.Arg209His					ZNF341_ENST00000342427.2_Missense_Mutation_p.R209H	p.R209H			Q9BYN7	ZN341_HUMAN			5	991	+			209					A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Missense_Mutation	SNP	ENST00000375200.1	37	c.626G>A		.	.	.	.	.	.	.	.	.	.	G	21.3	4.128755	0.77549	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	T;T	0.09630	3.18;2.96	5.05	4.04	0.47022	.	0.521385	0.20662	N	0.088003	T	0.08492	0.0211	L	0.40543	1.245	0.32145	N	0.585069	D;D;B	0.60160	0.987;0.987;0.025	P;P;B	0.48488	0.579;0.499;0.008	T	0.08351	-1.0726	10	0.02654	T	1	-18.5689	3.7277	0.08481	0.2092:0.2281:0.5627:0.0	.	150;209;209	Q504V9;Q9BYN7;Q9BYN7-2	.;ZN341_HUMAN;.	H	209	ENSP00000344308:R209H;ENSP00000364346:R209H	ENSP00000344308:R209H	R	+	2	0	ZNF341	31804775	1.000000	0.71417	0.990000	0.47175	0.962000	0.63368	2.587000	0.46128	2.377000	0.81083	0.456000	0.33151	CGT		0.697	ZNF341-201	KNOWN	basic	protein_coding	protein_coding				13	10	0	0	0	0.013537	0	13	10					A	32341114	G	A	32341114	3	1	394	1	0	0	0	0	1	0	0	0	17854	1145	40	1	644	1	ZNF341	20	32341114	Missense_Mutation	SNP	G	TCGA-ET-A3DV-01A-12D-A202-08		32341114	30684406	19	8155											
GABRQ	55879	broad.mit.edu	37	chrX	151818902	151818902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgccaggttcctacataCgcctgatactgaagttccag	8	13	0	2	rs376267415		TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chrX:151818902C>T	ENST00000370306.2	+	7	780	c.760C>T	c.(760-762)Cgc>Tgc	p.R254C		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	254					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|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)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|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)	TTCCTACATACGCCTGATACT	0.522																																						ENST00000370306.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52						c.(760-762)Cgc>Tgc		gamma-aminobutyric acid (GABA) A receptor, theta		C	CYS/ARG	1,3834		0,1,1631,571	303	264	277		760	5.2	0.9	X		277	0,6728		0,0,2428,1872	no	missense	GABRQ	NM_018558.2	180	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	probably-damaging	254/633	151818902	1,10562	2203	4300	6503	SO:0001583	missense	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	g.chrX:151818902C>T	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	14454	protein-coding gene	gene with protein product	"GABA(A) receptor, theta"	300349	"gamma-aminobutyric acid (GABA) receptor, theta"			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.760C>T	X.37:g.151818902C>T	ENSP00000359329:p.Arg254Cys						p.R254C	NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN			7	780	+	Acute lymphoblastic leukemia(192;6.56e-05)		254					A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	c.760C>T	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506597	0.64410	2.61E-4	0.0	ENSG00000147402	ENST00000370306	T	0.79749	-1.3	6.08	5.19	0.71726	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.52532	D	0.000078	T	0.81809	0.4901	N	0.21508	0.67	0.53688	D	0.999979	D	0.89917	1.0	D	0.81914	0.995	T	0.80091	-0.1527	10	0.30854	T	0.27	.	13.1189	0.59314	0.1609:0.8391:0.0:0.0	.	254	Q9UN88	GBRT_HUMAN	C	254	ENSP00000359329:R254C	ENSP00000359329:R254C	R	+	1	0	GABRQ	151569558	0.994000	0.37717	0.929000	0.37066	0.882000	0.50991	1.425000	0.34859	1.252000	0.44001	0.600000	0.82982	CGC		0.522	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		12	487	0	0	0	0.010729	0	12	487					T	151818902	C	T	151818902	3	4	394	1	0	0	0	0	1	0	0	0	6175	536	19	1	786	1	GABRQ	23	151818902	Missense_Mutation	SNP	C	TCGA-ET-A3DV-01A-12D-A202-08		151818902	3451658	20	8156											
ZNF644	84146	broad.mit.edu	37	chr1	91404819	91404819	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagctgttttgattgcacaTgtttacacctgattgggcaa	10	7	0	3	rs529278742		TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr1:91404819T>C	ENST00000370440.1	-	3	2309	c.2092A>G	c.(2092-2094)Atg>Gtg	p.M698V	ZNF644_ENST00000337393.5_Missense_Mutation_p.M698V|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	698					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(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TGATTGCACATGTTTACACCT	0.368													T|||	1	0.000199681	0	0	5008	,	,		19127	0		0	False		,,,				2504	0.001					ENST00000370440.1																			0				breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2092-2094)Atg>Gtg		zinc finger protein 644							127	127	127					1																	91404819		2203	4300	6503	SO:0001583	missense	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91404819T>C	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.2092A>G	1.37:g.91404819T>C	ENSP00000359469:p.Met698Val					ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.M698V|ZNF644_ENST00000361321.5_Intron	p.M698V			Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	3	2309	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	698					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	37	c.2092A>G	CCDS731.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.555980	0.00138	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000536941	T;T	0.00530	6.77;6.77	5.82	-0.746	0.11095	.	0.706833	0.14469	N	0.317717	T	0.00039	0.0001	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.01504	-1.1338	10	0.10636	T	0.68	2.4913	5.1357	0.14934	0.2147:0.5255:0.0:0.2598	.	698	Q9H582	ZN644_HUMAN	V	698;698;270	ENSP00000359469:M698V;ENSP00000337008:M698V	ENSP00000337008:M698V	M	-	1	0	ZNF644	91177407	0.310000	0.24527	0.079000	0.20413	0.619000	0.37552	0.516000	0.22817	-0.449000	0.07117	0.528000	0.53228	ATG		0.368	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		59	58	0	0	0	0.139131	0	59	58					C	91404819	T	C	91404819	3	2	395	1	0	0	0	0	1	0	0	0	18057	1464	51	3	1907	3	ZNF644	1	91404819	Missense_Mutation	SNP	T	TCGA-ET-A3DW-01A-11D-A19J-08		91404819	157845802	1	8157											
SLC26A9	115019	broad.mit.edu	37	chr1	205892514	205892514	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagttggcaaagtagagaggGgagcagtacgtgatgatttt	16	3	0	3	rs375038065		TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr1:205892514G>A	ENST00000367135.3	-	15	1721	c.1608C>T	c.(1606-1608)tcC>tcT	p.S536S	SLC26A9_ENST00000367134.2_Silent_p.S536S|SLC26A9_ENST00000340781.4_Silent_p.S536S	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	536	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			AGTAGAGAGGGGAGCAGTACG	0.507																																						ENST00000367135.3																			0				NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52						c.(1606-1608)tcC>tcT		solute carrier family 26 (anion exchanger), member 9							151	148	149					1																	205892514		2203	4300	6503	SO:0001819	synonymous_variant	115019					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205892514G>A	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"Solute carriers"	14469	protein-coding gene	gene with protein product	"anion transporter/exchanger-9"	608481	"solute carrier family 26, member 9"			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.1608C>T	1.37:g.205892514G>A						SLC26A9_ENST00000367134.2_Silent_p.S536S|SLC26A9_ENST00000340781.4_Silent_p.S536S	p.S536S	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		15	1721	-	Breast(84;0.201)		536			STAS.		A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Silent	SNP	ENST00000367135.3	37	c.1608C>T	CCDS30990.1																																																																																				0.507	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		8	91	0	0	0	0.047766	0	8	91					A	205892514	G	A	205892514	2	1	395	1	0	0	0	0	0	0	0	1	14524	1219	43	2		2	SLC26A9	1	205892514	Silent	SNP	G	TCGA-ET-A3DW-01A-11D-A19J-08	114487695	205892514	43358107	2	8158											
ACVR2A	92	broad.mit.edu	37	chr2	148684674	148684674	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcaatgctctgtgaaaccaTtgaagaatgttgggatcacg	12	7	2	3			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr2:148684674T>C	ENST00000241416.7	+	11	2009	c.1373T>C	c.(1372-1374)aTt>aCt	p.I458T	ACVR2A_ENST00000495775.1_3'UTR|ACVR2A_ENST00000404590.1_Missense_Mutation_p.I458T|ACVR2A_ENST00000535787.1_Missense_Mutation_p.I350T	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	458	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.I458T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TGTGAAACCATTGAAGAATGT	0.378																																						ENST00000241416.7																			1	Substitution - Missense(1)	p.I458T(1)	breast(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45						c.(1372-1374)aTt>aCt		activin A receptor, type IIA							106	101	103					2																	148684674		2203	4299	6502	SO:0001583	missense	92				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr2:148684674T>C		CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"activin A receptor, type II"	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.1373T>C	2.37:g.148684674T>C	ENSP00000241416:p.Ile458Thr					ACVR2A_ENST00000535787.1_Missense_Mutation_p.I350T|ACVR2A_ENST00000404590.1_Missense_Mutation_p.I458T|ACVR2A_ENST00000495775.1_3'UTR	p.I458T	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0969)	11	2009	+			458			Protein kinase.		B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	ENST00000241416.7	37	c.1373T>C	CCDS33301.1	.	.	.	.	.	.	.	.	.	.	T	18.74	3.688428	0.68271	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	T;T;T	0.71341	-0.56;-0.56;-0.56	6.06	6.06	0.98353	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80706	0.4674	M	0.76727	2.345	0.80722	D	1	P	0.41345	0.746	P	0.51550	0.673	T	0.82466	-0.0443	10	0.87932	D	0	.	16.6245	0.84952	0.0:0.0:0.0:1.0	.	458	P27037	AVR2A_HUMAN	T	458;350;458	ENSP00000241416:I458T;ENSP00000439988:I350T;ENSP00000384338:I458T	ENSP00000241416:I458T	I	+	2	0	ACVR2A	148401144	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	8.040000	0.89188	2.323000	0.78572	0.528000	0.53228	ATT		0.378	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616		6	56	0	0	0	0.02938	0	6	56					C	148684674	T	C	148684674	3	2	395	1	0	0	0	0	1	0	0	0	223	1493	52	3	1415	3	ACVR2A	2	148684674	Missense_Mutation	SNP	T	TCGA-ET-A3DW-01A-11D-A19J-08		148684674	94514699	3	8159											
ARMC8	25852	broad.mit.edu	37	chr3	137991824	137991824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagaatatggcatttcagGctgaacaaaaaataaaagca	7	6	2	2			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr3:137991824G>A	ENST00000469044.1	+	17	1766	c.1495G>A	c.(1495-1497)Gct>Act	p.A499T	ARMC8_ENST00000485396.1_Missense_Mutation_p.A426T|NME9_ENST00000317876.4_Intron|ARMC8_ENST00000481646.1_Missense_Mutation_p.A485T|ARMC8_ENST00000393058.3_Missense_Mutation_p.A489T|ARMC8_ENST00000461822.1_Missense_Mutation_p.A432T|NME9_ENST00000341790.5_Intron|NME9_ENST00000484930.1_Intron|ARMC8_ENST00000538260.1_Missense_Mutation_p.A468T|NME9_ENST00000383180.2_Intron|ARMC8_ENST00000491704.1_Missense_Mutation_p.A457T|NME9_ENST00000536478.1_Intron	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	499										endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						GGCATTTCAGGCTGAACAAAA	0.289																																						ENST00000469044.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						c.(1495-1497)Gct>Act		armadillo repeat containing 8							60	55	57					3																	137991824		1808	4066	5874	SO:0001583	missense	25852						binding	g.chr3:137991824G>A		CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"Armadillo repeat containing"	24999	protein-coding gene	gene with protein product	"GID complex subunit 5, VID28 homolog (S. cerevisiae)"					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.1495G>A	3.37:g.137991824G>A	ENSP00000419413:p.Ala499Thr					ARMC8_ENST00000485396.1_Missense_Mutation_p.A426T|ARMC8_ENST00000481646.1_Missense_Mutation_p.A485T|NME9_ENST00000383180.2_Intron|NME9_ENST00000341790.5_Intron|NME9_ENST00000317876.4_Intron|ARMC8_ENST00000538260.1_Missense_Mutation_p.A468T|ARMC8_ENST00000461822.1_Missense_Mutation_p.A432T|ARMC8_ENST00000491704.1_Missense_Mutation_p.A457T|NME9_ENST00000536478.1_Intron|ARMC8_ENST00000393058.3_Missense_Mutation_p.A489T|NME9_ENST00000484930.1_Intron	p.A499T	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN			17	1766	+			499					A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Missense_Mutation	SNP	ENST00000469044.1	37	c.1495G>A		.	.	.	.	.	.	.	.	.	.	G	23.9	4.469692	0.84533	.	.	ENSG00000114098	ENST00000481646;ENST00000469044;ENST00000491704;ENST00000461822;ENST00000485396;ENST00000538260;ENST00000393058;ENST00000539459	T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;1.28;1.28;1.28;-0.13	5.39	5.39	0.77823	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76807	0.4039	M	0.68317	2.08	0.80722	D	1	D;B;P;D;D	0.63880	0.962;0.067;0.898;0.993;0.978	B;B;P;D;P	0.68192	0.412;0.023;0.633;0.956;0.616	T	0.76767	-0.2838	10	0.46703	T	0.11	-33.5346	16.6367	0.85060	0.0:0.0:1.0:0.0	.	426;432;468;499;485	B7Z637;B7Z441;F5GWK4;Q8IUR7;Q8IUR7-2	.;.;.;ARMC8_HUMAN;.	T	485;499;457;432;426;468;489;356	ENSP00000420333:A485T;ENSP00000419413:A499T;ENSP00000417304:A457T;ENSP00000420706:A432T;ENSP00000417049:A426T;ENSP00000441592:A468T;ENSP00000376778:A489T	ENSP00000376778:A489T	A	+	1	0	ARMC8	139474514	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.624000	0.98398	2.509000	0.84616	0.650000	0.86243	GCT		0.289	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396		7	14	0	0	0	0.02938	0	7	14					A	137991824	G	A	137991824	3	1	395	1	0	0	0	0	1	0	0	0	957	1203	42	2	1585	2	ARMC8	3	137991824	Missense_Mutation	SNP	G	TCGA-ET-A3DW-01A-11D-A19J-08		137991824	60030606	4	8160											
TSC22D2	9819	broad.mit.edu	37	chr3	150127909	150127909	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctacccccgtcggagaaaAtgagccagcccactccggcc	10	17	0	2			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr3:150127909A>G	ENST00000361875.3	+	1	1788	c.772A>G	c.(772-774)Atg>Gtg	p.M258V	TSC22D2_ENST00000361136.2_Missense_Mutation_p.M258V	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	258					response to osmotic stress (GO:0006970)		sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GTCGGAGAAAATGAGCCAGCC	0.667																																						ENST00000361875.2																			0				cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(772-774)Atg>Gtg		TSC22 domain family, member 2							15	18	17					3																	150127909		2194	4282	6476	SO:0001583	missense	9819						sequence-specific DNA binding transcription factor activity	g.chr3:150127909A>G	AB014569	CCDS3149.1	3q25.1	2005-03-01			ENSG00000196428	ENSG00000196428			29095	protein-coding gene	gene with protein product						9734811	Standard	NM_014779		Approved	KIAA0669, TILZ4a, TILZ4b, TILZ4c	uc003exv.3	O75157	OTTHUMG00000159744	ENST00000361875.3:c.772A>G	3.37:g.150127909A>G	ENSP00000354543:p.Met258Val					TSC22D2_ENST00000361136.2_Missense_Mutation_p.M258V	p.M258V	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		1	1788	+			258					D3DNI5|Q6PI50|Q9H2Z6|Q9H2Z7|Q9H2Z8	Missense_Mutation	SNP	ENST00000361875.3	37	c.772A>G	CCDS3149.1	.	.	.	.	.	.	.	.	.	.	A	10.86	1.469351	0.26423	.	.	ENSG00000196428	ENST00000361875;ENST00000361136	T;T	0.27890	1.66;1.64	4.02	1.39	0.22231	.	0.083364	0.47093	D	0.000259	T	0.15262	0.0368	L	0.29908	0.895	0.24224	N	0.995425	B;B	0.25441	0.126;0.028	B;B	0.19148	0.024;0.011	T	0.18241	-1.0343	10	0.10111	T	0.7	.	6.2457	0.20815	0.742:0.1619:0.0961:0.0	.	258;258	O75157-2;O75157	.;T22D2_HUMAN	V	258	ENSP00000354543:M258V;ENSP00000354893:M258V	ENSP00000354893:M258V	M	+	1	0	TSC22D2	151610599	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.668000	0.46816	1.472000	0.48140	0.528000	0.53228	ATG		0.667	TSC22D2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357123.2	NM_014779		17	27	0	0	0	0.038395	0	17	27					G	150127909	A	G	150127909	3	3	395	1	0	0	0	0	1	0	0	0	16605	101	4	3	774	3	TSC22D2	3	150127909	Missense_Mutation	SNP	A	TCGA-ET-A3DW-01A-11D-A19J-08	12136085	150127909	47894521	5	8161											
SLC34A2	10568	broad.mit.edu	37	chr4	25669575	25669576	+	Frame_Shift_Ins	INS	-	-	G													caatcaccaacactattgttINSgcgctcatgcaggtgggaga							TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr4:25669575_25669576insG	ENST00000382051.3	+	6	647_648	c.597_598insG	c.(598-600)gcgfs	p.A200fs	SLC34A2_ENST00000504570.1_Frame_Shift_Ins_p.A199fs|SLC34A2_ENST00000503434.1_Frame_Shift_Ins_p.A199fs|SLC34A2_ENST00000510033.2_3'UTR	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	200					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				ACACTATTGTTGCGCTCATGCA	0.495			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"solute carrier family 34 (sodium phosphate), member 2"			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(595-600)gtcgctfs		solute carrier family 34 (type II sodium/phosphate contransporter), member 2																																				SO:0001589	frameshift_variant	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25669575_25669576insG	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"Solute carriers"	11020	protein-coding gene	gene with protein product		604217	"solute carrier family 34 (sodium phosphate), member 2"			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.598dupG	4.37:g.25669576_25669576dupG	ENSP00000371483:p.Ala200fs					SLC34A2_ENST00000504570.1_Frame_Shift_Ins_p.A199fs|SLC34A2_ENST00000510033.2_3'UTR|SLC34A2_ENST00000503434.1_Frame_Shift_Ins_p.A199fs	p.A200fs	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			6	647_648	+		Breast(46;0.0503)	200					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Frame_Shift_Ins	INS	ENST00000382051.3	37	c.597_598insG	CCDS3435.1																																																																																				0.495	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		7	40						7	40	---	---	---	---	G	25669576	-	G	25669575	7	5	395	1	0	1	1	0	0	0	0	0	14568	1799	63	0	615	0	SLC34A2	4	25669575	Frame_Shift_Ins	INS	-	TCGA-ET-A3DW-01A-11D-A19J-08		25669575	165484701	6	8162											
GALNT7	51809	broad.mit.edu	37	chr4	174238797	174238797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttttttagatcagaggcttcGaaactgcttactgcattgat	8	7	1	3			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr4:174238797G>A	ENST00000265000.4	+	10	1704	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K		NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	541	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.E541K(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		CAGAGGCTTCGAAACTGCTTA	0.393																																						ENST00000265000.4																			1	Substitution - Missense(1)	p.E541K(1)	large_intestine(1)	central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19						c.(1621-1623)Gaa>Aaa		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)							124	121	122					4																	174238797		2203	4300	6503	SO:0001583	missense	51809				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:174238797G>A	AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"Glycosyltransferase family 2 domain containing"	4129	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 7"	605005	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.1621G>A	4.37:g.174238797G>A	ENSP00000265000:p.Glu541Lys						p.E541K	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)	10	1704	+		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	541			Ricin B-type lectin.		B3KQU3|Q7Z5W7|Q9UJ28	Missense_Mutation	SNP	ENST00000265000.4	37	c.1621G>A	CCDS3815.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.14|15.14	2.745155|2.745155	0.49151|0.49151	.|.	.|.	ENSG00000109586|ENSG00000109586	ENST00000265000|ENST00000503213	T|.	0.26223|.	1.75|.	4.75|4.75	4.75|4.75	0.60458|0.60458	Ricin B-related lectin (1);Ricin B lectin (2);|.	0.349077|.	0.35525|.	N|.	0.003151|.	T|T	0.77384|0.77384	0.4122|0.4122	M|M	0.77486|0.77486	2.375|2.375	0.80722|0.80722	D|D	1|1	B|.	0.31655|.	0.334|.	B|.	0.18561|.	0.022|.	T|T	0.78250|0.78250	-0.2277|-0.2277	10|5	0.44086|.	T|.	0.13|.	.|.	18.6221|18.6221	0.91324|0.91324	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	541|.	Q86SF2|.	GALT7_HUMAN|.	K|Q	541|111	ENSP00000265000:E541K|.	ENSP00000265000:E541K|.	E|R	+|+	1|2	0|0	GALNT7|GALNT7	174475372|174475372	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.756000|0.756000	0.42949|0.42949	9.781000|9.781000	0.99029|0.99029	2.566000|2.566000	0.86566|0.86566	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.393	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362456.2	NM_017423		6	87	0	0	0	0.021553	0	6	87					A	174238797	G	A	174238797	3	1	395	1	0	0	0	0	1	0	0	0	6218	1059	37	1	1659	1	GALNT7	4	174238797	Missense_Mutation	SNP	G	TCGA-ET-A3DW-01A-11D-A19J-08	148569222	174238797	16915479	7	8163											
BMPER	168667	broad.mit.edu	37	chr7	33976989	33976989	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcagaggggagcctgttgtgAacagtgcaaaggtgattgat	16	5	0	4			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr7:33976989A>T	ENST00000297161.2	+	4	682	c.308A>T	c.(307-309)gAa>gTa	p.E103V	BMPER_ENST00000426693.1_Missense_Mutation_p.E103V	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	103	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GCCTGTTGTGAACAGTGCAAA	0.488																																						ENST00000297161.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(307-309)gAa>gTa		BMP binding endothelial regulator							118	106	110					7																	33976989		2203	4300	6503	SO:0001583	missense	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:33976989A>T		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"crossveinless-2"	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.308A>T	7.37:g.33976989A>T	ENSP00000297161:p.Glu103Val					BMPER_ENST00000426693.1_Missense_Mutation_p.E103V	p.E103V	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN			4	682	+			103			VWFC 1.		A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	c.308A>T	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	A	18.27	3.587034	0.66105	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.66280	-0.2;-0.2	5.18	5.18	0.71444	von Willebrand factor, type C (2);	0.000000	0.85682	D	0.000000	T	0.72309	0.3444	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.63488	0.915	T	0.74087	-0.3778	10	0.52906	T	0.07	.	15.0184	0.71605	1.0:0.0:0.0:0.0	.	103	Q8N8U9	BMPER_HUMAN	V	103	ENSP00000297161:E103V;ENSP00000393950:E103V	ENSP00000297161:E103V	E	+	2	0	BMPER	33943514	1.000000	0.71417	0.998000	0.56505	0.556000	0.35491	7.646000	0.83445	1.937000	0.56155	0.460000	0.39030	GAA		0.488	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		31	33	0	0	0	0.134883	0	31	33					T	33976989	A	T	33976989	3	4	395	1	0	0	0	0	1	0	0	0	1468	246	9	5	318	5	BMPER	7	33976989	Missense_Mutation	SNP	A	TCGA-ET-A3DW-01A-11D-A19J-08		33976989	125161674	8	8164											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		37	48	0	0	0	0.086207	0	37	48					T	140453136	A	T	140453136	3	4	395	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A3DW-01A-11D-A19J-08	106476147	140453136	18685527	9	8165											
C10orf90	118611	broad.mit.edu	37	chr10	128193581	128193581	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggaggccctgttttctcttGacttattctcatcaatcatc	6	11	4	1			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr10:128193581G>A	ENST00000284694.7	-	3	308	c.188C>T	c.(187-189)tCa>tTa	p.S63L	C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000392694.1_Missense_Mutation_p.S16L|C10orf90_ENST00000356858.3_Missense_Mutation_p.S16L|C10orf90_ENST00000454341.1_Missense_Mutation_p.S63L|C10orf90_ENST00000544758.1_Missense_Mutation_p.S160L	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	63					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		GTTTTCTCTTGACTTATTCTC	0.463																																						ENST00000284694.7																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(187-189)tCa>tTa		chromosome 10 open reading frame 90							126	114	118					10																	128193581		2203	4300	6503	SO:0001583	missense	118611							g.chr10:128193581G>A	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"fragile-site associated tumor suppressor"					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.188C>T	10.37:g.128193581G>A	ENSP00000284694:p.Ser63Leu					C10orf90_ENST00000544758.1_Missense_Mutation_p.S160L|C10orf90_ENST00000392694.1_Missense_Mutation_p.S16L|C10orf90_ENST00000454341.1_Missense_Mutation_p.S63L|C10orf90_ENST00000356858.3_Missense_Mutation_p.S16L|C10orf90_ENST00000368674.1_5'UTR	p.S63L	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	3	308	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)	63					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	c.188C>T	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	G	5.183	0.219261	0.09863	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	T;T;T;T;T	0.22945	2.24;2.24;2.23;2.24;1.93	4.76	2.76	0.32466	.	0.982655	0.08290	N	0.968530	T	0.23210	0.0561	L	0.43152	1.355	0.09310	N	1	B;B;B;B;B	0.12013	0.005;0.0;0.0;0.001;0.001	B;B;B;B;B	0.13407	0.009;0.003;0.003;0.004;0.003	T	0.19451	-1.0305	10	0.31617	T	0.26	-1.7623	9.9758	0.41783	0.2368:0.0:0.7632:0.0	.	160;160;16;63;63	F5GZL2;B4DMQ6;Q5T024;Q96M02;Q96M02-2	.;.;.;CJ090_HUMAN;.	L	16;63;63;160;63;16;16	ENSP00000284694:S63L;ENSP00000398786:S63L;ENSP00000444369:S160L;ENSP00000405995:S63L;ENSP00000376459:S16L	ENSP00000284694:S63L	S	-	2	0	C10orf90	128183571	0.040000	0.19996	0.001000	0.08648	0.001000	0.01503	2.470000	0.45119	1.246000	0.43901	-0.219000	0.12488	TCA		0.463	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		29	43	0	0	0	0.116897	0	29	43					A	128193581	G	A	128193581	3	1	395	1	0	0	0	0	1	0	0	0	1623	1294	45	2	1939	2	C10orf90	10	128193581	Missense_Mutation	SNP	G	TCGA-ET-A3DW-01A-11D-A19J-08		128193581	7341166	10	8166											
PHF21A	51317	broad.mit.edu	37	chr11	45958119	45958119	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttcttccttcttcagcAtctgaaaagatttttagaat	5	8	4	3			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr11:45958119A>G	ENST00000418153.2	-	16	1806	c.1607T>C	c.(1606-1608)aTg>aCg	p.M536T	PHF21A_ENST00000323180.6_Splice_Site_p.M490T|PHF21A_ENST00000257821.4_Splice_Site_p.M537T|PHF21A_ENST00000527753.1_5'Flank			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	536	Required for transcriptional repression.				blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						CTTCTTCAGCATCTGAAAAGA	0.388																																						ENST00000257821.4																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						c.e16-1		PHD finger protein 21A							114	110	111					11																	45958119		2202	4299	6501	SO:0001630	splice_region_variant	51317				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding	g.chr11:45958119A>G	AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"Zinc fingers, PHD-type"	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.1606-1T>C	11.37:g.45958119A>G						PHF21A_ENST00000418153.2_Splice_Site_p.M536_splice|PHF21A_ENST00000323180.6_Splice_Site_p.M490_splice	p.M537_splice	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN			16	2233	-			536			Required for transcriptional repression.		D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Splice_Site	SNP	ENST00000418153.2	37	c.1608_splice	CCDS44578.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.780170	0.49891	.	.	ENSG00000135365	ENST00000257821;ENST00000323180;ENST00000418153;ENST00000532028	T;T;T	0.22134	1.97;1.97;1.97	5.74	5.74	0.90152	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.035961	0.85682	D	0.000000	T	0.24812	0.0602	N	0.13043	0.29	0.80722	D	1	B;D;P	0.53312	0.022;0.959;0.918	B;P;P	0.61132	0.025;0.501;0.884	T	0.07966	-1.0745	10	0.11794	T	0.64	-9.209	16.0469	0.80725	1.0:0.0:0.0:0.0	.	536;490;537	Q96BD5;Q96BD5-2;Q96BD5-3	PF21A_HUMAN;.;.	T	537;490;536;11	ENSP00000257821:M537T;ENSP00000323152:M490T;ENSP00000398824:M536T	ENSP00000257821:M537T	M	-	2	0	PHF21A	45914695	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.923000	0.92808	2.194000	0.70268	0.460000	0.39030	ATG		0.388	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392583.1	NM_016621	Missense_Mutation	27	44	0	0	0	0.116897	0	27	44					G	45958119	A	G	45958119	5	3	395	1	0	0	0	0	0	0	1	0	11833	231	8	3	447	3	PHF21A	11	45958119	Splice_Site	SNP	A	TCGA-ET-A3DW-01A-11D-A19J-08		45958119	89048397	11	8167											
OR5F1	338674	broad.mit.edu	37	chr11	55761604	55761604	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acattggagtcacagaatgaCaagctgctgacatggcttgt	11	8	1	3			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr11:55761604C>T	ENST00000278409.1	-	1	497	c.498G>A	c.(496-498)ttG>ttA	p.L166L		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	166					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)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CACAGAATGACAAGCTGCTGA	0.473																																						ENST00000278409.1																			0				endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58						c.(496-498)ttG>ttA		olfactory receptor, family 5, subfamily F, member 1							80	75	77					11																	55761604		2201	4296	6497	SO:0001819	synonymous_variant	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761604C>T	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"GPCR / Class A : Olfactory receptors"	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.498G>A	11.37:g.55761604C>T							p.L166L	NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN			1	497	-	Esophageal squamous(21;0.00448)		166					Q495D1|Q6IFB9	Silent	SNP	ENST00000278409.1	37	c.498G>A	CCDS31515.1																																																																																				0.473	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		7	55	0	0	0	0.02938	0	7	55					T	55761604	C	T	55761604	2	4	395	1	0	0	0	0	0	0	0	1	11158	477	17	2		2	OR5F1	11	55761604	Silent	SNP	C	TCGA-ET-A3DW-01A-11D-A19J-08	9803485	55761604	79244912	12	8168											
NKX2-1	7080	broad.mit.edu	37	chr14	36987112	36987112	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgagaagagcacccggcgctTcctgcgcggcgcgcttggca	15	15	0	2			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr14:36987112T>C	ENST00000518149.1	-	3	1092	c.487A>G	c.(487-489)Aag>Gag	p.K163E	NKX2-1_ENST00000498187.2_Missense_Mutation_p.K163E|NKX2-1_ENST00000522719.2_Missense_Mutation_p.K163E|NKX2-1-AS1_ENST00000521292.2_RNA|NKX2-1_ENST00000354822.5_Missense_Mutation_p.K193E|RP11-896J10.3_ENST00000521945.1_RNA			P43699	NKX21_HUMAN	NK2 homeobox 1	163					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|brain development (GO:0007420)|cerebral cortex cell migration (GO:0021795)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|Clara cell differentiation (GO:0060486)|developmental induction (GO:0031128)|endoderm development (GO:0007492)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|forebrain development (GO:0030900)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain neuron fate commitment (GO:0021877)|globus pallidus development (GO:0021759)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|locomotory behavior (GO:0007626)|lung development (GO:0030324)|lung saccule development (GO:0060430)|menarche (GO:0042696)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|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 migration (GO:0001764)|oligodendrocyte differentiation (GO:0048709)|phospholipid metabolic process (GO:0006644)|pituitary gland development (GO:0021983)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|rhythmic process (GO:0048511)|thyroid gland development (GO:0030878)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|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)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		ACCCGGCGCTTCCTGCGCGGC	0.701			A		NSCLC																																	ENST00000518149.1				Dom	yes		14	14q13	7080	A	NK2 homeobox 1			E			NSCLC		0				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7						c.(487-489)Aag>Gag		NK2 homeobox 1							18	21	20					14																	36987112		2201	4297	6498	SO:0001583	missense	7080				epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding	g.chr14:36987112T>C		CCDS9659.1, CCDS41945.1	14q13.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000136352	ENSG00000136352		"Homeoboxes / ANTP class : NKL subclass"	11825	protein-coding gene	gene with protein product		600635	"benign chorea", "thyroid transcription factor 1"	NKX2A, BCH, TITF1		1976511	Standard	NM_001079668		Approved	TTF-1, TTF1	uc001wtu.3	P43699	OTTHUMG00000140225	ENST00000518149.1:c.487A>G	14.37:g.36987112T>C	ENSP00000428341:p.Lys163Glu					NKX2-1_ENST00000498187.2_Missense_Mutation_p.K163E|NKX2-1_ENST00000354822.5_Missense_Mutation_p.K193E|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000522719.2_Missense_Mutation_p.K163E	p.K163E			P43699	NKX21_HUMAN	Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)	3	1092	-	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		163					D3DSA3|O14954|O14955|Q7KZF6|Q9BRJ8	Missense_Mutation	SNP	ENST00000518149.1	37	c.487A>G	CCDS9659.1	.	.	.	.	.	.	.	.	.	.	T	18.86	3.713367	0.68730	.	.	ENSG00000136352	ENST00000354822;ENST00000498187;ENST00000518149;ENST00000522719	D;D;D;D	0.96967	-4.19;-4.19;-4.19;-4.19	4.39	4.39	0.52855	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98372	0.9459	M	0.92880	3.355	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.77004	0.981;0.989	D	0.99414	1.0931	10	0.87932	D	0	.	13.5919	0.61966	0.0:0.0:0.0:1.0	.	193;163	P43699-3;P43699	.;NKX21_HUMAN	E	193;163;163;163	ENSP00000346879:K193E;ENSP00000429607:K163E;ENSP00000428341:K163E;ENSP00000429519:K163E	ENSP00000346879:K193E	K	-	1	0	NKX2-1	36056863	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.836000	0.86788	1.630000	0.50440	0.454000	0.30748	AAG		0.701	NKX2-1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376225.2	NM_003317		9	7	0	0	0	0.058154	0	9	7					C	36987112	T	C	36987112	3	2	395	1	0	0	0	0	1	0	0	0	10449	1792	62	3	632	3	NKX2-1	14	36987112	Missense_Mutation	SNP	T	TCGA-ET-A3DW-01A-11D-A19J-08		36987112	70362428	13	8169											
MYLPF	1731	broad.mit.edu	37	chr16	30388975	30388975	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgtgtcacctctctccagCctggaggagctgctgaccac	10	15	2	1			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr16:30388975C>T	ENST00000571393.1	-	0	1589				MYLPF_ENST00000322861.7_Splice_Site_p.F119F			Q8WYJ6	SEPT1_HUMAN	septin 1						cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			CTCTCTCCAGCCTGGAGGAGC	0.662																																						ENST00000322861.7																			0				large_intestine(2)|lung(4)	6						c.e6-1		myosin light chain, phosphorylatable, fast skeletal muscle							57	46	50					16																	30388975		2197	4300	6497	SO:0001628	intergenic_variant	29895				skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle	g.chr16:30388975C>T	AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"Septins"	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984		16.37:g.30388975C>T							p.F119_splice	NM_013292.3	NP_037424.2	Q96A32	MLRS_HUMAN	Colorectal(24;0.193)		6	438	+			119			EF-hand 2.		B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Splice_Site	SNP	ENST00000571393.1	37	c.356_splice																																																																																					0.662	SEPT1-201	KNOWN	basic	protein_coding	protein_coding		NM_052838		3	6	0	0	0	0.115264	0	3	6					T	30388975	C	T	30388975	1	4	395	0	1	0	0	0	0	0	0	0	10060	753	26	2		2	MYLPF	16	30388975	IGR	SNP	C	TCGA-ET-A3DW-01A-11D-A19J-08		30388975	59965778	14	8170											
ZFHX3	463	broad.mit.edu	37	chr16	72821228	72821228	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcatcgagggctgaaccccTgaggtgctgcatgaacttga	14	10	0	4			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr16:72821228T>C	ENST00000268489.5	-	10	11619	c.10947A>G	c.(10945-10947)tcA>tcG	p.S3649S	AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.S2735S|RP5-991G20.4_ENST00000569195.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3649					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)				GCTGAACCCCTGAGGTGCTGC	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.(10945-10947)tcA>tcG		zinc finger homeobox 3							76	74	75					16																	72821228		2198	4300	6498	SO:0001819	synonymous_variant	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.chr16:72821228T>C	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.10947A>G	16.37:g.72821228T>C						ZFHX3_ENST00000397992.5_Silent_p.S2735S	p.S3649S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11619	-		Ovarian(137;0.13)	3649					D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10947A>G	CCDS10908.1																																																																																				0.602	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		43	60	0	0	0	0.09836	0	43	60					C	72821228	T	C	72821228	2	2	395	1	0	0	0	0	0	0	0	1	17631	1567	55	3		3	ZFHX3	16	72821228	Silent	SNP	T	TCGA-ET-A3DW-01A-11D-A19J-08	42432253	72821228	17533525	15	8171											
SMCHD1	23347	broad.mit.edu	37	chr18	2697862	2697862	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagggaaggtacctaagAttgtcaacctaagggaaata	10	5	1	1			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr18:2697862A>G	ENST00000320876.6	+	10	1503	c.1165A>G	c.(1165-1167)Att>Gtt	p.I389V	SMCHD1_ENST00000261598.8_Missense_Mutation_p.I389V|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	389					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GGTACCTAAGATTGTCAACCT	0.328																																						ENST00000320876.6																			0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.(1165-1167)Att>Gtt		structural maintenance of chromosomes flexible hinge domain containing 1							149	132	138					18																	2697862		1857	4101	5958	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2697862A>G	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.1165A>G	18.37:g.2697862A>G	ENSP00000326603:p.Ile389Val					RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.I389V	p.I389V	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN			10	1503	+			389					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.1165A>G	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	A	12.70	2.016403	0.35606	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.22945	1.93;1.93	5.06	2.66	0.31614	.	.	.	.	.	T	0.18882	0.0453	L	0.29908	0.895	0.25419	N	0.988284	B	0.02656	0.0	B	0.06405	0.002	T	0.18903	-1.0322	9	0.49607	T	0.09	.	9.3981	0.38415	0.8532:0.0:0.1468:0.0	.	389	A6NHR9	SMHD1_HUMAN	V	389	ENSP00000326603:I389V;ENSP00000261598:I389V	ENSP00000261598:I389V	I	+	1	0	SMCHD1	2687862	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.548000	0.53670	0.351000	0.24027	-0.441000	0.05720	ATT		0.328	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			5	57	0	0	0	0.021553	0	5	57					G	2697862	A	G	2697862	3	3	395	1	0	0	0	0	1	0	0	0	14788	333	12	3	1203	3	SMCHD1	18	2697862	Missense_Mutation	SNP	A	TCGA-ET-A3DW-01A-11D-A19J-08		2697862	75379386	16	8172											
KDSR	2531	broad.mit.edu	37	chr18	61018297	61018297	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtacacgctgcccaggtaatTgatgctcattaacctctgca	8	12	2	1			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr18:61018297T>A	ENST00000406396.3	-	6	824	c.433A>T	c.(433-435)Aat>Tat	p.N145Y	KDSR_ENST00000326575.5_Intron	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	145					3-keto-sphinganine metabolic process (GO:0006666)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-dehydrosphinganine reductase activity (GO:0047560)			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						CCCAGGTAATTGATGCTCATT	0.542																																						ENST00000406396.3																			0				endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						c.(433-435)Aat>Tat		3-ketodihydrosphingosine reductase							61	62	61					18																	61018297		2203	4300	6503	SO:0001583	missense	2531				3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding	g.chr18:61018297T>A		CCDS11982.1	18q21	2011-09-20	2008-02-20	2008-02-20	ENSG00000119537	ENSG00000119537	1.1.1.102	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	4021	protein-coding gene	gene with protein product	"3-dehydrosphinganine reductase", "short chain dehydrogenase/reductase family 35C, member 1"	136440	"follicular lymphoma variant translocation 1"	FVT1		8417785, 15328338, 17420465, 19027726	Standard	NM_002035		Approved	DHSR, SDR35C1	uc010dpw.3	Q06136	OTTHUMG00000132792	ENST00000406396.3:c.433A>T	18.37:g.61018297T>A	ENSP00000385083:p.Asn145Tyr					KDSR_ENST00000326575.5_Intron	p.N145Y	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN			6	824	-			145					B2R5Y1|B4DMX0	Missense_Mutation	SNP	ENST00000406396.3	37	c.433A>T	CCDS11982.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.950974	0.92660	.	.	ENSG00000119537	ENST00000406396	D	0.94650	-3.48	5.95	5.95	0.96441	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98570	0.9522	H	0.98951	4.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99758	1.1020	10	0.87932	D	0	.	16.4237	0.83790	0.0:0.0:0.0:1.0	.	145	Q06136	KDSR_HUMAN	Y	145	ENSP00000385083:N145Y	ENSP00000385083:N145Y	N	-	1	0	KDSR	59169277	1.000000	0.71417	0.984000	0.44739	0.998000	0.95712	8.040000	0.89188	2.279000	0.76181	0.533000	0.62120	AAT		0.542	KDSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256200.2			42	49	0	0	0	0.139131	0	42	49					A	61018297	T	A	61018297	3	1	395	1	0	0	0	0	1	0	0	0	8140	1812	63	5	585	5	KDSR	18	61018297	Missense_Mutation	SNP	T	TCGA-ET-A3DW-01A-11D-A19J-08	58320435	61018297	17058951	17	8173											
ZNF101	94039	broad.mit.edu	37	chr19	19790171	19790171	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaggcacatgagagctcatGctggacacaaacgatctgag	11	10	2	2			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr19:19790171G>T	ENST00000592502.1	+	4	483	c.373G>T	c.(373-375)Gct>Tct	p.A125S	ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_Missense_Mutation_p.A5S			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	125					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(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						GAGAGCTCATGCTGGACACAA	0.507																																						ENST00000592502.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						c.(373-375)Gct>Tct		zinc finger protein 101							106	86	93					19																	19790171		2203	4300	6503	SO:0001583	missense	94039				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19790171G>T	AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"Zinc fingers, C2H2-type", "-"	12881	protein-coding gene	gene with protein product		603983	"zinc finger protein 101 (Y2)"			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.373G>T	19.37:g.19790171G>T	ENSP00000468049:p.Ala125Ser					ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_Missense_Mutation_p.A5S	p.A125S			Q8IZC7	ZN101_HUMAN			4	483	+			125					C9JU83|Q0VDG9	Missense_Mutation	SNP	ENST00000592502.1	37	c.373G>T	CCDS32971.1	.	.	.	.	.	.	.	.	.	.	G	6.910	0.537431	0.13188	.	.	ENSG00000181896	ENST00000318110;ENST00000415440;ENST00000415784	T;T	0.14144	2.53;3.32	0.235	0.235	0.15431	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05640	0.0148	N	0.08118	0	0.21967	N	0.999446	B	0.16603	0.018	B	0.09377	0.004	T	0.36648	-0.9739	9	0.40728	T	0.16	.	2.6964	0.05136	0.4386:0.0:0.5614:0.0	.	125	Q8IZC7	ZN101_HUMAN	S	125;125;5	ENSP00000319716:A125S;ENSP00000400952:A5S	ENSP00000319716:A125S	A	+	1	0	ZNF101	19651171	0.047000	0.20315	0.054000	0.19295	0.056000	0.15407	0.223000	0.17719	0.308000	0.22923	0.313000	0.20887	GCT		0.507	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1	NM_033204		26	35	1	0	7.92952e-12	0.0918	8.72247e-12	26	35					T	19790171	G	T	19790171	3	4	395	1	0	0	0	0	1	0	0	0	17711	1319	46	4	387	4	ZNF101	19	19790171	Missense_Mutation	SNP	G	TCGA-ET-A3DW-01A-11D-A19J-08		19790171	39338812	18	8174											
ZFP36	7538	broad.mit.edu	37	chr19	39898789	39898789	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcgccaccccaaatacaagaCggaactctgtcacaagttct	6	14	3	1			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr19:39898789C>G	ENST00000248673.3	+	2	489	c.431C>G	c.(430-432)aCg>aGg	p.T144R	MIR4530_ENST00000581459.1_RNA|ZFP36_ENST00000597629.1_Missense_Mutation_p.T150R|ZFP36_ENST00000594045.1_3'UTR	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	144					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|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)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AAATACAAGACGGAACTCTGT	0.647																																					NSCLC(67;1164 1324 12056 21056 30097)	ENST00000597629.1																			0				large_intestine(1)|lung(5)|pancreas(1)	7						c.(448-450)aCg>aGg		ZFP36 ring finger protein							68	73	71					19																	39898789		2203	4299	6502	SO:0001583	missense	7538				positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding	g.chr19:39898789C>G	M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"RING-type (C3HC4) zinc fingers"	12862	protein-coding gene	gene with protein product		190700	"zinc finger protein 36, C3H type, homolog (mouse)"			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.431C>G	19.37:g.39898789C>G	ENSP00000248673:p.Thr144Arg					ZFP36_ENST00000594045.1_3'UTR|ZFP36_ENST00000248673.3_Missense_Mutation_p.T144R	p.T150R			P26651	TTP_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		2	523	+	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		144					B2RA54	Missense_Mutation	SNP	ENST00000248673.3	37	c.449C>G		.	.	.	.	.	.	.	.	.	.	C	20.1	3.939595	0.73557	.	.	ENSG00000128016	ENST00000248673	T	0.51574	0.7	4.07	3.03	0.35002	Zinc finger, CCCH-type (3);	0.060104	0.64402	D	0.000004	T	0.69450	0.3112	M	0.91090	3.175	0.51482	D	0.999927	D	0.64830	0.994	D	0.64237	0.923	T	0.74041	-0.3792	10	0.87932	D	0	-1.1703	9.5022	0.39024	0.0:0.8931:0.0:0.1069	.	144	P26651	TTP_HUMAN	R	144	ENSP00000248673:T144R	ENSP00000248673:T144R	T	+	2	0	ZFP36	44590629	1.000000	0.71417	0.915000	0.36163	0.981000	0.71138	7.571000	0.82399	0.949000	0.37715	0.442000	0.29010	ACG		0.647	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				42	70	0	0	0	0.092188	0	42	70					G	39898789	C	G	39898789	3	3	395	1	0	0	0	0	1	0	0	0	17642	536	19	4	437	4	ZFP36	19	39898789	Missense_Mutation	SNP	C	TCGA-ET-A3DW-01A-11D-A19J-08	20108618	39898789	19230194	19	8175											
SEZ6L	23544	broad.mit.edu	37	chr22	26747060	26747060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggtggatcactcgacccGcttaatttcggatcctgtgc	11	11	1	1			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr22:26747060G>A	ENST00000248933.6	+	12	2545	c.2450G>A	c.(2449-2451)cGc>cAc	p.R817H	SEZ6L_ENST00000403121.1_Missense_Mutation_p.R590H|SEZ6L_ENST00000343706.4_Missense_Mutation_p.R817H|SEZ6L_ENST00000411842.2_Missense_Mutation_p.R14H|SEZ6L_ENST00000529632.2_Missense_Mutation_p.R817H|SEZ6L_ENST00000404234.3_Missense_Mutation_p.R817H|SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000402979.1_Missense_Mutation_p.R590H			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	817	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CACTCGACCCGCTTAATTTCG	0.547																																						ENST00000529632.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						c.(2449-2451)cGc>cAc		seizure related 6 homolog (mouse)-like							117	102	107					22																	26747060		2203	4300	6503	SO:0001583	missense	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26747060G>A	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.2450G>A	22.37:g.26747060G>A	ENSP00000248933:p.Arg817His					SEZ6L_ENST00000403121.1_Missense_Mutation_p.R590H|SEZ6L_ENST00000411842.2_Missense_Mutation_p.R14H|SEZ6L_ENST00000248933.6_Missense_Mutation_p.R817H|SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000402979.1_Missense_Mutation_p.R590H|SEZ6L_ENST00000404234.3_Missense_Mutation_p.R817H|SEZ6L_ENST00000343706.4_Missense_Mutation_p.R817H	p.R817H	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN			12	2646	+			817			Sushi 4.		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	c.2450G>A	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	g	28.4	4.913610	0.92178	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979;ENST00000411842	T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	4.54	4.54	0.55810	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.56097	D	0.000035	T	0.76183	0.3952	M	0.72118	2.19	0.54753	D	0.99998	D;D;D;D;D;D	0.59357	0.961;0.985;0.977;0.978;0.968;0.985	P;P;P;P;P;P	0.62298	0.757;0.9;0.833;0.79;0.828;0.9	T	0.79548	-0.1758	10	0.66056	D	0.02	.	16.5015	0.84257	0.0:0.0:1.0:0.0	.	817;817;590;817;817;817	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;B0QYG3;Q9BYH1	.;.;.;.;.;SE6L1_HUMAN	H	817;817;817;817;590;590;14	ENSP00000384772:R817H;ENSP00000437037:R817H;ENSP00000248933:R817H;ENSP00000342661:R817H;ENSP00000384838:R590H;ENSP00000384733:R590H;ENSP00000397274:R14H	ENSP00000248933:R817H	R	+	2	0	SEZ6L	25077060	1.000000	0.71417	0.995000	0.50966	0.697000	0.40408	8.815000	0.91973	2.381000	0.81170	0.539000	0.68188	CGC		0.547	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			28	46	0	0	0	0.134883	0	28	46					A	26747060	G	A	26747060	3	1	395	1	0	0	0	0	1	0	0	0	14143	1087	38	1	2496	1	SEZ6L	22	26747060	Missense_Mutation	SNP	G	TCGA-ET-A3DW-01A-11D-A19J-08		26747060	24557506	20	8176											
LRRC39	127495	broad.mit.edu	37	chr1	100614603	100614603	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcatcttgaattatattatcCatccgtatttatggagattg	7	6	1	2			TCGA-ET-A40P-01A-11D-A23M-08	TCGA-ET-A40P-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa3cb4c-2255-4346-9830-761b39c929ac	a4bb0a0e-f781-42dd-b6fe-eb216ef56842	g.chr1:100614603C>A	ENST00000370137.1	-	10	1201	c.1003G>T	c.(1003-1005)Gga>Tga	p.G335*	LRRC39_ENST00000370138.1_3'UTR|TRMT13_ENST00000370141.2_3'UTR|LRRC39_ENST00000342895.3_Nonsense_Mutation_p.G335*	NM_001256386.1|NM_144620.3	NP_001243315.1|NP_653221.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	335										endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TTATATTATCCATCCGTATTT	0.318																																						ENST00000370137.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13						c.(1003-1005)Gga>Tga		leucine rich repeat containing 39							133	134	134					1																	100614603		2203	4298	6501	SO:0001587	stop_gained	127495							g.chr1:100614603C>A	AK096892	CCDS766.1, CCDS58014.1	1p21.3	2008-02-05			ENSG00000122477	ENSG00000122477			28228	protein-coding gene	gene with protein product						12975309	Standard	NM_001256385		Approved	MGC14816	uc001dsx.2	Q96DD0	OTTHUMG00000010839	ENST00000370137.1:c.1003G>T	1.37:g.100614603C>A	ENSP00000359156:p.Gly335*					TRMT13_ENST00000370141.2_3'UTR|LRRC39_ENST00000342895.3_Nonsense_Mutation_p.G335*|LRRC39_ENST00000370138.1_3'UTR	p.G335*	NM_001256386.1|NM_144620.3	NP_001243315.1|NP_653221.1	Q96DD0	LRC39_HUMAN		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)	10	1201	-		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	335					B3KUD2|D3DT56|Q5VVK7	Nonsense_Mutation	SNP	ENST00000370137.1	37	c.1003G>T	CCDS766.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971074	0.53614	.	.	ENSG00000122477	ENST00000370137;ENST00000342895	.	.	.	5.92	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.8046	0.46509	0.0:0.9135:0.0:0.0864	.	.	.	.	X	335	.	ENSP00000344470:G335X	G	-	1	0	LRRC39	100387191	0.002000	0.14202	0.011000	0.14972	0.271000	0.26615	0.091000	0.15046	1.511000	0.48818	0.591000	0.81541	GGA		0.318	LRRC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029917.2	NM_144620		3	38	1	0	1	1	1	3	38					A	100614603	C	A	100614603	4	1	396	1	0	0	0	0	0	1	0	0	8995	603	21	4	8	4	LRRC39	1	100614603	Nonsense_Mutation	SNP	C	TCGA-ET-A40P-01A-11D-A23M-08		100614603	148636018	1	8177											
RGPD5	727851	broad.mit.edu	37	chr2	113147089	113147089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttaaattttgctgccaaccGctctagtttggcatcaccat	6	11	2	0	rs565181003	byFrequency	TCGA-ET-A40P-01A-11D-A23M-08	TCGA-ET-A40P-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa3cb4c-2255-4346-9830-761b39c929ac	a4bb0a0e-f781-42dd-b6fe-eb216ef56842	g.chr2:113147089G>A	ENST00000302558.3	-	20	3624	c.3433C>T	c.(3433-3435)Cgg>Tgg	p.R1145W	RGPD8_ENST00000409750.1_Missense_Mutation_p.R1005W	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1145	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				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						GCTGCCAACCGCTCTAGTTTG	0.458													.|||	3	0.000599042	8e-04	0	5008	,	,		26402	0.002		0	False		,,,				2504	0					ENST00000302558.3																			0				endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(3433-3435)Cgg>Tgg		RANBP2-like and GRIP domain containing 8							20	16	17					2																	113147089		691	1578	2269	SO:0001583	missense	727851							g.chr2:113147089G>A	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.3433C>T	2.37:g.113147089G>A	ENSP00000306637:p.Arg1145Trp					RGPD8_ENST00000409750.1_Missense_Mutation_p.R1005W	p.R1145W	NM_001164463.1	NP_001157935.1					20	3624	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.3433C>T	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	-	11.66	1.704460	0.30232	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.44482	0.92;0.92	2.3	2.3	0.28687	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.45196	0.1330	L	0.38175	1.15	0.80722	D	1	D	0.71674	0.998	P	0.56916	0.809	T	0.47129	-0.9141	9	0.87932	D	0	-3.8912	10.3508	0.43934	0.0:0.0:1.0:0.0	.	1145	O14715	RGPD8_HUMAN	W	1145;1005	ENSP00000306637:R1145W;ENSP00000386511:R1005W	ENSP00000306637:R1145W	R	-	1	2	RGPD8	112863560	1.000000	0.71417	0.977000	0.42913	0.424000	0.31475	9.529000	0.98049	1.299000	0.44798	0.152000	0.16155	CGG		0.458	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		4	226	0	0	0	1	0	4	226					A	113147089	G	A	113147089	3	1	396	1	0	0	0	0	1	0	0	0	13289	1086	38	1	12894	1	RGPD5	2	113147089	Missense_Mutation	SNP	G	TCGA-ET-A40P-01A-11D-A23M-08		113147089	130052284	2	8178											
DDX60	55601	broad.mit.edu	37	chr4	169214990	169214990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctctgtttcctaaaaagCgatggtacattctcaaagat	7	9	2	1	rs146995893		TCGA-ET-A40P-01A-11D-A23M-08	TCGA-ET-A40P-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa3cb4c-2255-4346-9830-761b39c929ac	a4bb0a0e-f781-42dd-b6fe-eb216ef56842	g.chr4:169214990C>T	ENST00000393743.3	-	7	1121	c.830G>A	c.(829-831)cGc>cAc	p.R277H		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	277					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TCCTAAAAAGCGATGGTACAT	0.408																																						ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(829-831)cGc>cAc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60		C	HIS/ARG	0,4406		0,0,2203	114	118	116		830	-4.3	0.0	4	dbSNP_134	116	2,8598	2.2+/-6.3	0,2,4298	no	missense	DDX60	NM_017631.5	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	277/1713	169214990	2,13004	2203	4300	6503	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169214990C>T	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.830G>A	4.37:g.169214990C>T	ENSP00000377344:p.Arg277His						p.R277H	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	7	1121	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	277					Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.830G>A	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	C	7.432	0.638892	0.14386	0.0	2.33E-4	ENSG00000137628	ENST00000393743	T	0.17370	2.28	4.12	-4.33	0.03677	.	1.231740	0.05507	N	0.559471	T	0.08179	0.0204	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.41324	-0.9515	10	0.14252	T	0.57	.	11.5041	0.50454	0.0:0.277:0.0:0.723	.	277	Q8IY21	DDX60_HUMAN	H	277	ENSP00000377344:R277H	ENSP00000377344:R277H	R	-	2	0	DDX60	169451565	0.000000	0.05858	0.000000	0.03702	0.896000	0.52359	-0.263000	0.08670	-0.857000	0.04115	-0.259000	0.10710	CGC		0.408	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		11	117	0	0	0	1	0	11	117					T	169214990	C	T	169214990	3	4	396	1	0	0	0	0	1	0	0	0	4378	768	27	1	4436	1	DDX60	4	169214990	Missense_Mutation	SNP	C	TCGA-ET-A40P-01A-11D-A23M-08		169214990	21939286	3	8179											
TMEM184A	202915	broad.mit.edu	37	chr7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC													ctcccgccggagccgccgctINSggggtgggtgccgggcctgg					rs3837151|rs3779607	byFrequency	TCGA-ET-A40P-01A-11D-A23M-08	TCGA-ET-A40P-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa3cb4c-2255-4346-9830-761b39c929ac	a4bb0a0e-f781-42dd-b6fe-eb216ef56842	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)cccagc>cccGGCagc	p.389_390PS>PGS	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389			S -> G (in dbSNP:rs3779607). {ECO:0000269|PubMed:15489334}.		germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(1165-1170)ccgcgg>ccGGCgcgg		transmembrane protein 184A				1912,2170		535,842,664						-3.6	0.0		dbSNP_132	17	3872,4214		1028,1816,1199	no	coding	TMEM184A	NM_001097620.1		1563,2658,1863	A1A1,A1R,RR		47.8852,46.8398,47.5345				5784,6384				SO:0001652	inframe_insertion	202915					integral to membrane		g.chr7:1586662_1586663insGCC		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1167_1168insGGC	7.37:g.1586662_1586663insGCC	ENSP00000297477:p.Pro389_Ser390insGly						p.389_390PR>PAR	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	9	1483_1484	-		Ovarian(82;0.0253)	389					Q8TBQ6	In_Frame_Ins	INS	ENST00000297477.5	37	c.1167_1168insGGC	CCDS43537.1																																																																																				0.703	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		12	39						12	39	---	---	---	---	GCC	1586663	-	GCC	1586662	7	5	396	1	0	1	1	0	0	0	0	0	16101	1580	55	0	77	0	TMEM184A	7	1586662	In_Frame_Ins	INS	-	TCGA-ET-A40P-01A-11D-A23M-08		1586662	157552001	4	8180											
DLX6	1750	broad.mit.edu	37	chr7	96635420	96635421	+	In_Frame_Ins	INS	-	-	GCC													cagcagcagcaacagcaacaINSgccgccgccgccgccgccgc					rs527616759|rs570498188|rs559903070|rs374304439	byFrequency	TCGA-ET-A40P-01A-11D-A23M-08	TCGA-ET-A40P-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa3cb4c-2255-4346-9830-761b39c929ac	a4bb0a0e-f781-42dd-b6fe-eb216ef56842	g.chr7:96635420_96635421insGCC	ENST00000518156.2	+	1	561_562	c.131_132insGCC	c.(130-135)cagccg>caGCCgccg	p.53_54insP	DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000431497.2_RNA|DLX6_ENST00000555308.1_5'Flank|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000458352.2_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	0					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					caacagcaacagccgccgccgc	0.698														532	0.10623	0.0076	0.0893	5008	,	,		7133	0.0685		0.1948	False		,,,				2504	0.1994					ENST00000518156.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(130-132)ccc>cGCCcc		distal-less homeobox 6																																				SO:0001652	inframe_insertion	1750				nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:96635420_96635421insGCC		CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"Homeoboxes / ANTP class : NKL subclass"	2919	protein-coding gene	gene with protein product		600030	"distal-less homeo box 6"			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.156_158dupGCC	7.37:g.96635427_96635429dupGCC	ENSP00000428480:p.Pro54_Pro55dup					DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000605417.1_RNA	p.43_44insR			P56179	DLX6_HUMAN			1	561_562	+	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		0					A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	In_Frame_Ins	INS	ENST00000518156.2	37	c.131_132insGCC	CCDS47647.2																																																																																				0.698	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	NM_005222		3	5						3	5	---	---	---	---	GCC	96635421	-	GCC	96635420	7	5	396	1	0	1	1	0	0	0	0	0	4575	188	7	0	133	0	DLX6	7	96635420	In_Frame_Ins	INS	-	TCGA-ET-A40P-01A-11D-A23M-08	95048758	96635420	62503243	5	8181											
WNK2	65268	broad.mit.edu	37	chr9	96019417	96019417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcttgctcaagtccctcCgcaggtaattctaggttgat	10	12	2	1			TCGA-ET-A40P-01A-11D-A23M-08	TCGA-ET-A40P-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa3cb4c-2255-4346-9830-761b39c929ac	a4bb0a0e-f781-42dd-b6fe-eb216ef56842	g.chr9:96019417C>T	ENST00000297954.4	+	10	2378	c.2378C>T	c.(2377-2379)cCg>cTg	p.P793L	WNK2_ENST00000395475.2_Missense_Mutation_p.P727L|WNK2_ENST00000349097.3_Missense_Mutation_p.P405L|WNK2_ENST00000395477.2_Missense_Mutation_p.P793L|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.P405L	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	793					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CAAGTCCCTCCGCAGGTAATT	0.662																																						ENST00000297954.4																			0				breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(2377-2379)cCg>cTg		WNK lysine deficient protein kinase 2							24	25	25					9																	96019417		2203	4300	6503	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96019417C>T	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"serologically defined colon cancer antigen 43"	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.2378C>T	9.37:g.96019417C>T	ENSP00000297954:p.Pro793Leu					WNK2_ENST00000395477.2_Missense_Mutation_p.P793L|WNK2_ENST00000427277.2_Missense_Mutation_p.P405L|WNK2_ENST00000395475.2_Missense_Mutation_p.P727L|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.P405L	p.P793L			Q9Y3S1	WNK2_HUMAN			10	2378	+			793					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.2378C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.91|11.91	1.778536|1.778536	0.31502|0.31502	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000448039;ENST00000297954;ENST00000395477;ENST00000395475;ENST00000349097;ENST00000427277|ENST00000432730	T;T;T;T;T;T|.	0.72051|.	-0.62;-0.34;-0.35;-0.61;0.24;0.23|.	4.94|4.94	3.04|3.04	0.35103|0.35103	.|.	0.493949|.	0.21154|.	N|.	0.079280|.	T|T	0.46927|0.46927	0.1418|0.1418	L|L	0.29908|0.29908	0.895|0.895	0.35833|0.35833	D|D	0.825474|0.825474	P;P;P;P;P|.	0.41673|.	0.759;0.564;0.645;0.759;0.645|.	B;B;B;B;B|.	0.28465|.	0.09;0.042;0.041;0.09;0.041|.	T|T	0.49995|0.49995	-0.8879|-0.8879	10|5	0.59425|.	D|.	0.04|.	.|.	13.0588|13.0588	0.58996|0.58996	0.2917:0.7083:0.0:0.0|0.2917:0.7083:0.0:0.0	.|.	793;793;396;793;793|.	Q9Y3S1-2;Q9Y3S1-4;A6PVR4;F8W9F9;Q9Y3S1|.	.;.;.;.;WNK2_HUMAN|.	L|C	741;793;793;727;405;405|789	ENSP00000412465:P741L;ENSP00000297954:P793L;ENSP00000378860:P793L;ENSP00000378858:P727L;ENSP00000297876:P405L;ENSP00000411181:P405L|.	ENSP00000297954:P793L|.	P|R	+|+	2|1	0|0	WNK2|WNK2	95059238|95059238	0.049000|0.049000	0.20398|0.20398	0.193000|0.193000	0.23327|0.23327	0.597000|0.597000	0.36814|0.36814	2.632000|2.632000	0.46511|0.46511	0.451000|0.451000	0.26802|0.26802	0.462000|0.462000	0.41574|0.41574	CCG|CGC		0.662	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		14	24	0	0	0	1	0	14	24					T	96019417	C	T	96019417	3	4	396	1	0	0	0	0	1	0	0	0	17375	652	23	1	2416	1	WNK2	9	96019417	Missense_Mutation	SNP	C	TCGA-ET-A40P-01A-11D-A23M-08		96019417	45194014	6	8182											
ADAM12	8038	broad.mit.edu	37	chr10	127737869	127737869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcacaagccctgggtccgGcatgtcatcgcccaagtaca	10	14	1	0			TCGA-ET-A40P-01A-11D-A23M-08	TCGA-ET-A40P-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa3cb4c-2255-4346-9830-761b39c929ac	a4bb0a0e-f781-42dd-b6fe-eb216ef56842	g.chr10:127737869G>A	ENST00000368679.4	-	16	2188	c.1879C>T	c.(1879-1881)Ccg>Tcg	p.P627S	ADAM12_ENST00000467145.1_5'Flank|ADAM12_ENST00000368676.4_Missense_Mutation_p.P627S	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	627	Cys-rich.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CCTGGGTCCGGCATGTCATCG	0.527																																						ENST00000368679.4																			0				biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1879-1881)Ccg>Tcg		ADAM metallopeptidase domain 12							183	187	185					10																	127737869		2203	4300	6503	SO:0001583	missense	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127737869G>A	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"ADAM metallopeptidase domain containing"	190	protein-coding gene	gene with protein product	"meltrin alpha"	602714	"a disintegrin and metalloproteinase domain 12 (meltrin alpha)"			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.1879C>T	10.37:g.127737869G>A	ENSP00000357668:p.Pro627Ser					ADAM12_ENST00000368676.4_Missense_Mutation_p.P627S	p.P627S	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	16	2188	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	627			Cys-rich.		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	c.1879C>T	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.104243	0.76983	.	.	ENSG00000148848	ENST00000368679;ENST00000368676	T;T	0.21191	2.02;2.02	4.9	4.9	0.64082	ADAM, cysteine-rich (2);	0.000000	0.85682	D	0.000000	T	0.37489	0.1005	L	0.42008	1.315	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	1.0;0.999;0.999;0.999;1.0	T	0.03534	-1.1027	10	0.14252	T	0.57	.	18.2825	0.90103	0.0:0.0:1.0:0.0	.	624;624;627;624;627	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	S	627	ENSP00000357668:P627S;ENSP00000357665:P627S	ENSP00000357665:P627S	P	-	1	0	ADAM12	127727859	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.806000	0.86020	2.548000	0.85928	0.655000	0.94253	CCG		0.527	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			5	220	0	0	0	1	0	5	220					A	127737869	G	A	127737869	3	1	396	1	0	0	0	0	1	0	0	0	236	1203	42	2	990	2	ADAM12	10	127737869	Missense_Mutation	SNP	G	TCGA-ET-A40P-01A-11D-A23M-08		127737869	7796878	7	8183											
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	14	13	0	0	rs121913233		TCGA-ET-A40P-01A-11D-A23M-08	TCGA-ET-A40P-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa3cb4c-2255-4346-9830-761b39c929ac	a4bb0a0e-f781-42dd-b6fe-eb216ef56842	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117	102	107					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)				HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R	p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		42	82	0	0	0	1	0	42	82					C	533874	T	C	533874	3	2	396	1	0	0	0	0	1	0	0	0	7348	1580	55	3	466	3	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-ET-A40P-01A-11D-A23M-08		533874	134472642	8	8184											
PTPRB	5787	broad.mit.edu	37	chr12	70954544	70954545	+	Frame_Shift_Ins	INS	-	-	C													ccaggaacaaggccttgaaaINSccgccactccgtcaggtcct							TCGA-ET-A40P-01A-11D-A23M-08	TCGA-ET-A40P-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa3cb4c-2255-4346-9830-761b39c929ac	a4bb0a0e-f781-42dd-b6fe-eb216ef56842	g.chr12:70954544_70954545insC	ENST00000261266.5	-	15	3713_3714	c.3684_3685insG	c.(3682-3687)cggtttfs	p.F1229fs	PTPRB_ENST00000550857.1_Frame_Shift_Ins_p.F1139fs|PTPRB_ENST00000451516.2_Frame_Shift_Ins_p.F1139fs|PTPRB_ENST00000334414.6_Frame_Shift_Ins_p.F1447fs|PTPRB_ENST00000538708.1_Frame_Shift_Ins_p.F1139fs|PTPRB_ENST00000550358.1_Frame_Shift_Ins_p.F1359fs|PTPRB_ENST00000551525.1_Frame_Shift_Ins_p.F1446fs	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1229	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGGCCTTGAAACCGCCACTCCG	0.49																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(4336-4341)cgttcafs		protein tyrosine phosphatase, receptor type, B																																				SO:0001589	frameshift_variant	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70954544_70954545insC	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.3685dupG	12.37:g.70954546_70954546dupC	ENSP00000261266:p.Phe1229fs					PTPRB_ENST00000550358.1_Frame_Shift_Ins_p.S1359fs|PTPRB_ENST00000538708.1_Frame_Shift_Ins_p.S1139fs|PTPRB_ENST00000451516.2_Frame_Shift_Ins_p.S1139fs|PTPRB_ENST00000551525.1_Frame_Shift_Ins_p.S1446fs|PTPRB_ENST00000261266.5_Frame_Shift_Ins_p.S1229fs|PTPRB_ENST00000550857.1_Frame_Shift_Ins_p.S1139fs	p.S1447fs	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		17	4382_4383	-	Renal(347;0.236)		1229					B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Frame_Shift_Ins	INS	ENST00000261266.5	37	c.4338_4339insG	CCDS44944.1																																																																																				0.49	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			8	40						8	40	---	---	---	---	C	70954545	-	C	70954544	7	5	396	1	0	1	1	0	0	0	0	0	12796	43	2	0	2380	0	PTPRB	12	70954544	Frame_Shift_Ins	INS	-	TCGA-ET-A40P-01A-11D-A23M-08		70954544	62897351	9	8185											
PMM2	5373	broad.mit.edu	37	chr16	8906904	8906904	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacaagagatactgtctgCgacatgtggaaaatgacggt	14	6	1	2	rs199562225		TCGA-ET-A40P-01A-11D-A23M-08	TCGA-ET-A40P-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa3cb4c-2255-4346-9830-761b39c929ac	a4bb0a0e-f781-42dd-b6fe-eb216ef56842	g.chr16:8906904C>T	ENST00000268261.4	+	7	646	c.580C>T	c.(580-582)Cga>Tga	p.R194*	PMM2_ENST00000537352.1_Nonsense_Mutation_p.R69*|PMM2_ENST00000569958.1_Nonsense_Mutation_p.R103*|PMM2_ENST00000566983.1_Nonsense_Mutation_p.R167*|PMM2_ENST00000539622.1_Nonsense_Mutation_p.R111*	NM_000303.2	NP_000294.1	O15305	PMM2_HUMAN	phosphomannomutase 2	194					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|mannose biosynthetic process (GO:0019307)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)	phosphomannomutase activity (GO:0004615)			breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1)	9						ATACTGTCTGCGACATGTGGA	0.453																																					Esophageal Squamous(154;1308 1842 2827 29799 42829)	ENST00000268261.4																			0				breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1)	9	GRCh37	CM034289	PMM2	M		c.(580-582)Cga>Tga		phosphomannomutase 2							147	129	136					16																	8906904		2197	4300	6497	SO:0001587	stop_gained	5373				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	phosphomannomutase activity	g.chr16:8906904C>T	BC008310	CCDS10536.1	16p13	2012-09-06			ENSG00000140650	ENSG00000140650	5.3.1.8		9115	protein-coding gene	gene with protein product	"phosphomannose isomerase 1"	601785		CDG1		9140401	Standard	NM_000303		Approved	CDGS, CDG1a, PMI, PMI1	uc002czf.4	O15305	OTTHUMG00000129697	ENST00000268261.4:c.580C>T	16.37:g.8906904C>T	ENSP00000268261:p.Arg194*					PMM2_ENST00000569958.1_Nonsense_Mutation_p.R103*|PMM2_ENST00000566983.1_Nonsense_Mutation_p.R167*|PMM2_ENST00000539622.1_Nonsense_Mutation_p.R111*|PMM2_ENST00000537352.1_Nonsense_Mutation_p.R69*	p.R194*	NM_000303.2	NP_000294.1	O15305	PMM2_HUMAN			7	646	+			194					A8K672|B7Z6R0|D3DUF3	Nonsense_Mutation	SNP	ENST00000268261.4	37	c.580C>T	CCDS10536.1	.	.	.	.	.	.	.	.	.	.	C	8.858	0.946142	0.18356	.	.	ENSG00000140650	ENST00000268261;ENST00000539622;ENST00000537352	.	.	.	4.89	-8.08	0.01094	.	0.659654	0.15856	N	0.241245	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.7549	0.34639	0.2197:0.311:0.4693:0.0	.	.	.	.	X	194;111;69	.	ENSP00000268261:R194X	R	+	1	2	PMM2	8814405	0.978000	0.34361	0.435000	0.26784	0.016000	0.09150	0.826000	0.27407	-1.655000	0.01497	-0.976000	0.02587	CGA		0.453	PMM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251904.1	NM_000303		6	149	0	0	0	1	0	6	149					T	8906904	C	T	8906904	4	4	396	1	0	0	0	0	0	1	0	0	12137	760	27	1	606	1	PMM2	16	8906904	Nonsense_Mutation	SNP	C	TCGA-ET-A40P-01A-11D-A23M-08		8906904	81447849	10	8186											
SEZ6	124925	broad.mit.edu	37	chr17	27283247	27283247	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgtaggggcgggggcgggggCggggcagctgcagggagctt	25	7	0	0			TCGA-ET-A40P-01A-11D-A23M-08	TCGA-ET-A40P-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa3cb4c-2255-4346-9830-761b39c929ac	a4bb0a0e-f781-42dd-b6fe-eb216ef56842	g.chr17:27283247C>G	ENST00000317338.12	-	16	3310	c.2882G>C	c.(2881-2883)cGc>cCc	p.R961P	PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Silent_p.P493P|SEZ6_ENST00000360295.9_Missense_Mutation_p.R961P|SEZ6_ENST00000442608.3_Missense_Mutation_p.R948P			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	961					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			ggggcgggggcggggCAGCTG	0.582																																						ENST00000317338.12																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29						c.(2881-2883)cGc>cCc		seizure related 6 homolog (mouse)							7	10	9					17																	27283247		1889	4083	5972	SO:0001583	missense	124925					integral to membrane|plasma membrane		g.chr17:27283247C>G	AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"seizure related gene 6 (mouse) homolog"			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.2882G>C	17.37:g.27283247C>G	ENSP00000312942:p.Arg961Pro					SEZ6_ENST00000442608.3_Missense_Mutation_p.R948P|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000360295.9_Missense_Mutation_p.R961P|SEZ6_ENST00000335960.6_Silent_p.P493P	p.R961P			Q53EL9	SEZ6_HUMAN	Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)		16	3310	-	Lung NSC(42;0.0137)		961					B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Missense_Mutation	SNP	ENST00000317338.12	37	c.2882G>C	CCDS45639.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.298116	0.23650	.	.	ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000317338;ENST00000540632	T	0.26810	1.71	5.46	-3.4	0.04853	.	1.305430	0.04903	N	0.451599	T	0.26484	0.0647	L	0.57536	1.79	0.09310	N	0.999999	P;B	0.34757	0.467;0.275	B;B	0.38880	0.284;0.105	T	0.44128	-0.9348	10	0.62326	D	0.03	.	5.5265	0.16960	0.2225:0.2315:0.0:0.546	.	961;961	Q53EL9-3;Q53EL9	.;SEZ6_HUMAN	P	961;961;836;78	ENSP00000353440:R961P	ENSP00000312942:R836P	R	-	2	0	SEZ6	24307373	0.002000	0.14202	0.010000	0.14722	0.764000	0.43329	-0.016000	0.12613	-0.387000	0.07809	0.491000	0.48974	CGC		0.582	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3			4	1	0	0	0	1	0	4	1					G	27283247	C	G	27283247	3	3	396	1	0	0	0	0	1	0	0	0	14142	768	27	4	123	4	SEZ6	17	27283247	Missense_Mutation	SNP	C	TCGA-ET-A40P-01A-11D-A23M-08		27283247	53911963	11	8187											
UNC13A	23025	broad.mit.edu	37	chr19	17758148	17758148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaccgccttcatctgctgcGtgtgcgccgtcttggtcacc	11	15	4	1			TCGA-ET-A40P-01A-11D-A23M-08	TCGA-ET-A40P-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa3cb4c-2255-4346-9830-761b39c929ac	a4bb0a0e-f781-42dd-b6fe-eb216ef56842	g.chr19:17758148G>A	ENST00000519716.2	-	17	1969	c.1970C>T	c.(1969-1971)aCg>aTg	p.T657M	UNC13A_ENST00000551649.1_Missense_Mutation_p.T657M|UNC13A_ENST00000252773.7_Missense_Mutation_p.T657M|UNC13A_ENST00000428389.2_Missense_Mutation_p.T745M|UNC13A_ENST00000550896.1_Missense_Mutation_p.T655M|UNC13A_ENST00000552293.1_Missense_Mutation_p.T657M	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	657					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CATCTGCTGCGTGTGCGCCGT	0.622																																						ENST00000428389.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(2233-2235)aCg>aTg		unc-13 homolog A (C. elegans)							57	62	60					19																	17758148		2128	4264	6392	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17758148G>A	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.1970C>T	19.37:g.17758148G>A	ENSP00000429562:p.Thr657Met					UNC13A_ENST00000252773.7_Missense_Mutation_p.T657M|UNC13A_ENST00000552293.1_Missense_Mutation_p.T657M|UNC13A_ENST00000551649.1_Missense_Mutation_p.T657M|UNC13A_ENST00000550896.1_Missense_Mutation_p.T655M|UNC13A_ENST00000519716.2_Missense_Mutation_p.T657M	p.T745M			Q9UPW8	UN13A_HUMAN			18	2233	-			657			C2 2.		E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.2234C>T	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220125	0.58560	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	3.76	3.76	0.43208	.	0.354673	0.25964	U	0.027175	T	0.41719	0.1171	N	0.08118	0	0.30489	N	0.771575	P	0.39809	0.689	B	0.37650	0.255	T	0.51466	-0.8702	10	0.48119	T	0.1	-17.1224	13.4331	0.61068	0.0:0.0:1.0:0.0	.	657	Q9UPW8	UN13A_HUMAN	M	657;745;657;657;657;655	ENSP00000429562:T657M;ENSP00000400409:T745M;ENSP00000252773:T657M;ENSP00000447236:T657M;ENSP00000447572:T657M;ENSP00000446831:T655M	ENSP00000252773:T657M	T	-	2	0	UNC13A	17619148	0.998000	0.40836	1.000000	0.80357	0.880000	0.50808	2.807000	0.47955	1.812000	0.52913	0.313000	0.20887	ACG		0.622	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		6	15	0	0	0	1	0	6	15					A	17758148	G	A	17758148	3	1	396	1	0	0	0	0	1	0	0	0	16981	1145	40	1	3249	1	UNC13A	19	17758148	Missense_Mutation	SNP	G	TCGA-ET-A40P-01A-11D-A23M-08		17758148	41370835	12	8188											
ZNF295	49854	broad.mit.edu	37	chr21	43411861	43411861	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagaggacttgaaggtgcGcatgcactcgaggcaggtca	15	8	1	2			TCGA-ET-A40P-01A-11D-A23M-08	TCGA-ET-A40P-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa3cb4c-2255-4346-9830-761b39c929ac	a4bb0a0e-f781-42dd-b6fe-eb216ef56842	g.chr21:43411861G>A	ENST00000310826.5	-	3	2527	c.2344C>T	c.(2344-2346)Cgc>Tgc	p.R782C	ZBTB21_ENST00000398505.3_Missense_Mutation_p.R581C|ZBTB21_ENST00000398499.1_Missense_Mutation_p.R782C|ZBTB21_ENST00000398511.3_Missense_Mutation_p.R782C|ZBTB21_ENST00000465968.1_5'UTR	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	782					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										TTGAAGGTGCGCATGCACTCG	0.517																																						ENST00000310826.5																			0											c.(2344-2346)Cgc>Tgc		zinc finger and BTB domain containing 21							166	171	169					21																	43411861		2203	4300	6503	SO:0001583	missense	49854							g.chr21:43411861G>A	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13083	protein-coding gene	gene with protein product			"zinc finger protein 295"	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2344C>T	21.37:g.43411861G>A	ENSP00000308759:p.Arg782Cys					ZBTB21_ENST00000398499.1_Missense_Mutation_p.R782C|ZBTB21_ENST00000465968.1_5'UTR|ZBTB21_ENST00000398511.3_Missense_Mutation_p.R782C|ZBTB21_ENST00000398505.3_Missense_Mutation_p.R581C	p.R782C	NM_001098402.1	NP_001091872.1					3	2527	-								Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	c.2344C>T	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.440882	0.83993	.	.	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511	T;T;T;T	0.08896	3.2;3.04;3.04;3.04	5.32	5.32	0.75619	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.64402	D	0.000001	T	0.29158	0.0725	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.969;1.0	T	0.00603	-1.1649	10	0.87932	D	0	-28.5079	19.371	0.94484	0.0:0.0:1.0:0.0	.	581;782	Q9ULJ3-2;Q9ULJ3	.;ZN295_HUMAN	C	581;782;782;782	ENSP00000381517:R581C;ENSP00000308759:R782C;ENSP00000381512:R782C;ENSP00000381523:R782C	ENSP00000308759:R782C	R	-	1	0	ZNF295	42284930	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.208000	0.95075	2.656000	0.90262	0.563000	0.77884	CGC		0.517	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		5	226	0	0	0	1	0	5	226					A	43411861	G	A	43411861	3	1	396	1	0	0	0	0	1	0	0	0	17824	1087	38	1	860	1	ZNF295	21	43411861	Missense_Mutation	SNP	G	TCGA-ET-A40P-01A-11D-A23M-08		43411861	4718034	13	8189											
KLHL22	84861	broad.mit.edu	37	chr22	20796598	20796598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtagcctgtgcggctgccgCggttgtgtgagcggccacct	16	13	0	1	rs570202770		TCGA-ET-A40P-01A-11D-A23M-08	TCGA-ET-A40P-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa3cb4c-2255-4346-9830-761b39c929ac	a4bb0a0e-f781-42dd-b6fe-eb216ef56842	g.chr22:20796598C>T	ENST00000328879.4	-	7	1823	c.1667G>A	c.(1666-1668)cGc>cAc	p.R556H	KLHL22_ENST00000440659.2_Missense_Mutation_p.R413H	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	556					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCGGCTGCCGCGGTTGTGTGA	0.612													C|||	1	0.000199681	8e-04	0	5008	,	,		20696	0		0	False		,,,				2504	0					ENST00000328879.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20						c.(1666-1668)cGc>cAc		kelch-like family member 22							63	61	62					22																	20796598		2203	4300	6503	SO:0001583	missense	84861				cell division	Cul3-RING ubiquitin ligase complex		g.chr22:20796598C>T		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"Kelch-like", "BTB/POZ domain containing"	25888	protein-coding gene	gene with protein product			"kelch-like 22 (Drosophila)"			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.1667G>A	22.37:g.20796598C>T	ENSP00000331682:p.Arg556His					KLHL22_ENST00000440659.2_Missense_Mutation_p.R413H	p.R556H	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		7	1823	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	556					A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Missense_Mutation	SNP	ENST00000328879.4	37	c.1667G>A	CCDS13780.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.438954	0.63067	.	.	ENSG00000099910	ENST00000328879;ENST00000440659	T;T	0.77489	-1.1;-1.1	5.67	5.67	0.87782	Kelch-type beta propeller (1);	0.114494	0.64402	D	0.000017	T	0.77452	0.4132	N	0.25485	0.75	0.47778	D	0.999512	D	0.63880	0.993	P	0.60345	0.873	T	0.78283	-0.2264	10	0.56958	D	0.05	.	10.6721	0.45764	0.0:0.9133:0.0:0.0867	.	556	Q53GT1	KLH22_HUMAN	H	556;413	ENSP00000331682:R556H;ENSP00000405521:R413H	ENSP00000331682:R556H	R	-	2	0	KLHL22	19126598	0.948000	0.32251	0.968000	0.41197	0.910000	0.53928	1.901000	0.39838	2.687000	0.91594	0.563000	0.77884	CGC		0.612	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775		27	14	0	0	0	1	0	27	14					T	20796598	C	T	20796598	3	4	396	1	0	0	0	0	1	0	0	0	8377	768	27	1	241	1	KLHL22	22	20796598	Missense_Mutation	SNP	C	TCGA-ET-A40P-01A-11D-A23M-08		20796598	30507968	14	8190											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299250	125299250	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catgtctgggtccatccgccAcagagccacggtgccgtcgc	12	16	1	1			TCGA-ET-A40P-01A-11D-A23M-08	TCGA-ET-A40P-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa3cb4c-2255-4346-9830-761b39c929ac	a4bb0a0e-f781-42dd-b6fe-eb216ef56842	g.chrX:125299250A>T	ENST00000360028.2	-	1	684	c.658T>A	c.(658-660)Tgg>Agg	p.W220R	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.W220R			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	220										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						TCCATCCGCCACAGAGCCACG	0.632																																						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.(658-660)Tgg>Agg		DDB1 and CUL4 associated factor 12-like 2							35	38	37					X																	125299250		2202	4295	6497	SO:0001583	missense	340578							g.chrX:125299250A>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.658T>A	X.37:g.125299250A>T	ENSP00000353128:p.Trp220Arg					DCAF12L2_ENST00000360028.2_Missense_Mutation_p.W220R	p.W220R	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	738	-			220					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.658T>A	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	A	12.35	1.910931	0.33721	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	D;D	0.83506	-1.73;-1.73	4.53	3.38	0.38709	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.31290	N	0.007916	D	0.90058	0.6895	M	0.87971	2.92	0.39861	D	0.973374	D	0.89917	1.0	D	0.97110	1.0	D	0.90345	0.4362	10	0.87932	D	0	.	6.798	0.23736	0.8851:0.0:0.1149:0.0	.	220	Q5VW00	DC122_HUMAN	R	220	ENSP00000441489:W220R;ENSP00000353128:W220R	ENSP00000353128:W220R	W	-	1	0	DCAF12L2	125126931	1.000000	0.71417	0.256000	0.24389	0.007000	0.05969	6.073000	0.71245	1.737000	0.51674	0.441000	0.28932	TGG		0.632	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		20	55	0	0	0	1	0	20	55					T	125299250	A	T	125299250	3	4	396	1	0	0	0	0	1	0	0	0	4265	159	6	5	737	5	DCAF12L2	23	125299250	Missense_Mutation	SNP	A	TCGA-ET-A40P-01A-11D-A23M-08		125299250	29971310	15	8191											
BCORL1	63035	broad.mit.edu	37	chrX	129171350	129171351	+	Frame_Shift_Del	DEL	TC	TC	-													ctgtccccacaggatgttgtTctctactgcctccagaaaga							TCGA-ET-A40P-01A-11D-A23M-08	TCGA-ET-A40P-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa3cb4c-2255-4346-9830-761b39c929ac	a4bb0a0e-f781-42dd-b6fe-eb216ef56842	g.chrX:129171350_129171351delTC	ENST00000218147.7	+	9	4511_4512	c.4314_4315delTC	c.(4312-4317)gttctcfs	p.L1439fs	BCORL1_ENST00000359304.2_Frame_Shift_Del_p.L1309fs|BCORL1_ENST00000540052.1_Frame_Shift_Del_p.L1439fs|BCORL1_ENST00000303743.5_Frame_Shift_Del_p.L1513fs			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1439					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AGGATGTTGTTCTCTACTGCCT	0.5																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(4312-4317)gttcfs		BCL6 corepressor-like 1																																				SO:0001589	frameshift_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129171350_129171351delTC	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.4314_4315delTC	X.37:g.129171352_129171353delTC	ENSP00000218147:p.Leu1439fs					BCORL1_ENST00000359304.2_Frame_Shift_Del_p.VL1308fs|BCORL1_ENST00000303743.5_Frame_Shift_Del_p.VL1512fs|BCORL1_ENST00000218147.7_Frame_Shift_Del_p.VL1438fs	p.VL1438fs	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			8	4358_4359	+			1438					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Frame_Shift_Del	DEL	ENST00000218147.7	37	c.4314_4315delTC	CCDS14616.1																																																																																				0.5	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		36	62						36	62	---	---	---	---	-	129171351	TC	-	129171350	7	5	396	1	0	1	0	1	0	0	0	0	1387	1770	62	0	4570	0	BCORL1	23	129171350	Frame_Shift_Del	DEL	TC	TCGA-ET-A40P-01A-11D-A23M-08	3872100	129171350	26099210	16	8192											
F8	2157	broad.mit.edu	37	chrX	154197713	154197713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatttccaaggacgcctggCgatggttcctcacaagaaat	10	10	1	2	rs137852403		TCGA-ET-A40P-01A-11D-A23M-08	TCGA-ET-A40P-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa3cb4c-2255-4346-9830-761b39c929ac	a4bb0a0e-f781-42dd-b6fe-eb216ef56842	g.chrX:154197713C>T	ENST00000360256.4	-	7	1102	c.902G>A	c.(901-903)cGc>cAc	p.R301H	F8_ENST00000483822.1_5'Flank	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	301	F5/8 type A 1.|Plastocyanin-like 2.		R -> C (in HEMA; severe/mild). {ECO:0000269|PubMed:11554935, ECO:0000269|PubMed:12195713, ECO:0000269|PubMed:12325022, ECO:0000269|PubMed:7579394}.|R -> H (in HEMA; severe; dbSNP:rs28935216). {ECO:0000269|PubMed:10338101, ECO:0000269|PubMed:10408784, ECO:0000269|PubMed:11554935, ECO:0000269|PubMed:1908096}.|R -> L (in HEMA; severe). {ECO:0000269|PubMed:8644728}.		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GGACGCCTGGCGATGGTTCCT	0.458																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	GRCh37	CM082642|CM910121|CM950395	F8	M	rs137852403	c.(901-903)cGc>cAc		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						150	131	138					X																	154197713		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154197713C>T	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.902G>A	X.37:g.154197713C>T	ENSP00000353393:p.Arg301His						p.R301H	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			7	1102	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		301		R -> C (in HEMA; severe/mild).|R -> H (in HEMA; severe; dbSNP:rs28935216).|R -> L (in HEMA; severe).	F5/8 type A 1.|Plastocyanin-like 2.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.902G>A	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530480	0.85706	.	.	ENSG00000185010	ENST00000360256	D	0.99793	-6.77	5.51	5.51	0.81932	Cupredoxin (2);Multicopper oxidase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99667	0.9876	M	0.70108	2.13	0.40358	D	0.979216	D	0.89917	1.0	D	0.97110	1.0	D	0.97805	1.0247	10	0.52906	T	0.07	-12.6853	15.0532	0.71891	0.0:1.0:0.0:0.0	rs28935216	301	P00451	FA8_HUMAN	H	301	ENSP00000353393:R301H	ENSP00000353393:R301H	R	-	2	0	F8	153850907	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	3.772000	0.55325	2.305000	0.77605	0.544000	0.68410	CGC		0.458	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			12	147	0	0	0	1	0	12	147					T	154197713	C	T	154197713	3	4	396	1	0	0	0	0	1	0	0	0	5350	768	27	1	6261	1	F8	23	154197713	Missense_Mutation	SNP	C	TCGA-ET-A40P-01A-11D-A23M-08	25026363	154197713	1072847	17	8193											
CCBL2	56267	broad.mit.edu	37	chr1	89427829	89427829	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggcactattagtatgacCtgcaataaaagcaaataaga	7	6	0	2			TCGA-ET-A40Q-01A-11D-A23M-08	TCGA-ET-A40Q-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfe288f0-ec44-4a22-8136-fd5ee948f101	bf959b0c-98bf-4bc9-af29-4fed90522963	g.chr1:89427829C>T	ENST00000260508.4	-	6	791		c.e6-1		CCBL2_ENST00000370491.3_Splice_Site|CCBL2_ENST00000446900.2_Splice_Site|CCBL2_ENST00000370485.2_Splice_Site	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2						2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	mitochondrion (GO:0005739)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|kynurenine-glyoxylate transaminase activity (GO:0047315)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)		TTAGTATGACCTGCAATAAAA	0.403																																						ENST00000260508.4																			0				endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18						c.e6-1		cysteine conjugate-beta lyase 2	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						116	104	108					1																	89427829		2203	4300	6503	SO:0001630	splice_region_variant	56267				biosynthetic process|kynurenine metabolic process|tryptophan catabolic process		cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding	g.chr1:89427829C>T	AF091090	CCDS30766.1, CCDS30767.1	1p22.2	2009-06-23			ENSG00000137944	ENSG00000137944			33238	protein-coding gene	gene with protein product		610656				16376499	Standard	NM_001008662		Approved	RBM1, RP11-82K18.3, KAT3	uc001dmp.2	Q6YP21	OTTHUMG00000010617	ENST00000260508.4:c.454-1G>A	1.37:g.89427829C>T						CCBL2_ENST00000370485.2_Splice_Site|CCBL2_ENST00000370491.3_Splice_Site|CCBL2_ENST00000446900.2_Splice_Site		NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN		all cancers(265;0.0117)|Epithelial(280;0.0341)	6	791	-		Lung NSC(277;0.123)						B3KQ13|O95335|Q5JS27|Q5T9T7|Q5T9T8|Q6AI27|Q6ICW1|Q9BVY5	Splice_Site	SNP	ENST00000260508.4	37		CCDS30766.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676919	0.67928	.	.	ENSG00000137944	ENST00000370491;ENST00000260508;ENST00000370486	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0409	0.97590	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCBL2	89200417	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	7.176000	0.77643	2.740000	0.93945	0.655000	0.94253	.		0.403	CCBL2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000029300.3	NM_001008661	Intron	24	59	0	0	0	1	0	24	59					T	89427829	C	T	89427829	5	4	397	1	0	0	0	0	0	0	1	0	2733	695	24	2	947	2	CCBL2	1	89427829	Splice_Site	SNP	C	TCGA-ET-A40Q-01A-11D-A23M-08		89427829	159822792	1	8194											
ETAA1	54465	broad.mit.edu	37	chr2	67624765	67624766	+	Frame_Shift_Ins	INS	-	-	T													gtgcggcagcgagagcagccINStccgaccgccgccctgtgca							TCGA-ET-A40Q-01A-11D-A23M-08	TCGA-ET-A40Q-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfe288f0-ec44-4a22-8136-fd5ee948f101	bf959b0c-98bf-4bc9-af29-4fed90522963	g.chr2:67624765_67624766insT	ENST00000272342.5	+	1	315_316	c.185_186insT	c.(184-189)cctccgfs	p.P63fs		NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	63						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						CGAGAGCAGCCTCCGACCGCCG	0.713																																						ENST00000272342.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						c.(184-186)cccfs		Ewing tumor-associated antigen 1																																				SO:0001589	frameshift_variant	54465					cytoplasm|nucleus		g.chr2:67624765_67624766insT	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"Ewing's tumor-associated antigen 1"			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.186dupT	2.37:g.67624766_67624766dupT	ENSP00000272342:p.Pro63fs						p.P62fs	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN			1	315_316	+			62					Q05BT7|Q53SC4	Frame_Shift_Ins	INS	ENST00000272342.5	37	c.185_186insT	CCDS1882.1																																																																																				0.713	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		2	4						2	4	---	---	---	---	T	67624766	-	T	67624765	7	5	397	1	0	1	1	0	0	0	0	0	5267	681	24	0	187	0	ETAA1	2	67624765	Frame_Shift_Ins	INS	-	TCGA-ET-A40Q-01A-11D-A23M-08		67624765	175574608	2	8195											
RASA1	5921	broad.mit.edu	37	chr5	86675610	86675610	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactaatttaacacacctatTgaacatactttcagagcttg	4	10	1	2			TCGA-ET-A40Q-01A-11D-A23M-08	TCGA-ET-A40Q-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfe288f0-ec44-4a22-8136-fd5ee948f101	bf959b0c-98bf-4bc9-af29-4fed90522963	g.chr5:86675610T>C	ENST00000274376.6	+	19	3110	c.2546T>C	c.(2545-2547)tTg>tCg	p.L849S	RASA1_ENST00000456692.2_Missense_Mutation_p.L672S|CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000512763.1_Missense_Mutation_p.L682S|RASA1_ENST00000506290.1_Missense_Mutation_p.L683S	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	849	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				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)		ACACACCTATTGAACATACTT	0.308																																						ENST00000456692.2																			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.(2014-2016)tTg>tCg		RAS p21 protein activator (GTPase activating protein) 1							84	85	85					5																	86675610		2203	4295	6498	SO:0001583	missense	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.chr5:86675610T>C		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.2546T>C	5.37:g.86675610T>C	ENSP00000274376:p.Leu849Ser					RASA1_ENST00000512763.1_Missense_Mutation_p.L682S|RASA1_ENST00000274376.6_Missense_Mutation_p.L849S|RASA1_ENST00000506290.1_Missense_Mutation_p.L683S	p.L672S	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	19	2130	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	849			C2.		B2R6W3|Q9UDI1	Missense_Mutation	SNP	ENST00000274376.6	37	c.2015T>C	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	T	18.80	3.702045	0.68501	.	.	ENSG00000145715	ENST00000274376;ENST00000456692;ENST00000512763;ENST00000506290	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	4.98	2.48	0.30137	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.142073	0.44483	D	0.000459	D	0.86033	0.5836	M	0.76838	2.35	0.53005	D	0.999961	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.992;0.992;0.994;0.996;0.998	D	0.85027	0.0915	10	0.72032	D	0.01	.	10.337	0.43856	0.2611:0.0:0.0:0.7389	.	683;682;683;672;849	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	S	849;672;682;683	ENSP00000274376:L849S;ENSP00000411221:L672S;ENSP00000422008:L682S;ENSP00000420905:L683S	ENSP00000274376:L849S	L	+	2	0	RASA1	86711366	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	6.197000	0.72100	0.292000	0.22492	0.533000	0.62120	TTG		0.308	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		11	56	0	0	0	1	0	11	56					C	86675610	T	C	86675610	3	2	397	1	0	0	0	0	1	0	0	0	13060	1821	63	3	2632	3	RASA1	5	86675610	Missense_Mutation	SNP	T	TCGA-ET-A40Q-01A-11D-A23M-08		86675610	94239650	3	8196											
C6orf81	221481	broad.mit.edu	37	chr6	35716418	35716418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtgagggccggaacgcacCccactaccacgtggtgaaat	13	12	0	2			TCGA-ET-A40Q-01A-11D-A23M-08	TCGA-ET-A40Q-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfe288f0-ec44-4a22-8136-fd5ee948f101	bf959b0c-98bf-4bc9-af29-4fed90522963	g.chr6:35716418C>T	ENST00000373866.3	+	6	816	c.794C>T	c.(793-795)cCc>cTc	p.P265L	ARMC12_ENST00000288065.2_Missense_Mutation_p.P292L|ARMC12_ENST00000373869.3_Missense_Mutation_p.P255L			Q5T9G4	ARM12_HUMAN	armadillo repeat containing 12	265						nucleus (GO:0005634)											CGGAACGCACCCCACTACCAC	0.562																																						ENST00000373866.3																			0											c.(793-795)cCc>cTc		armadillo repeat containing 12							106	95	99					6																	35716418		2203	4300	6503	SO:0001583	missense	221481						binding	g.chr6:35716418C>T	AK058119	CCDS4809.1, CCDS69093.1, CCDS69094.1	6p21.31	2013-02-14	2011-12-14	2011-12-14	ENSG00000157343	ENSG00000157343		"Armadillo repeat containing"	21099	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 81"	C6orf81			Standard	XM_005248920		Approved	FLJ25390	uc003ola.3	Q5T9G4	OTTHUMG00000014577	ENST00000373866.3:c.794C>T	6.37:g.35716418C>T	ENSP00000362973:p.Pro265Leu					ARMC12_ENST00000373869.3_Missense_Mutation_p.P255L|ARMC12_ENST00000288065.2_Missense_Mutation_p.P292L	p.P265L			Q5T9G4	CF081_HUMAN			6	816	+			265					Q8NEB2|Q96LL8	Missense_Mutation	SNP	ENST00000373866.3	37	c.794C>T		.	.	.	.	.	.	.	.	.	.	C	10.42	1.344528	0.24339	.	.	ENSG00000157343	ENST00000373869;ENST00000288065;ENST00000373866	T;T;T	0.63913	1.6;-0.07;-0.07	4.9	4.02	0.46733	.	0.626364	0.14964	N	0.288166	T	0.31949	0.0813	L	0.27053	0.805	0.34725	D	0.729143	B;P	0.42296	0.16;0.775	B;B	0.39258	0.17;0.295	T	0.07083	-1.0791	10	0.33940	T	0.23	.	11.986	0.53147	0.173:0.827:0.0:0.0	.	255;292	Q5T9G4-3;Q5T9G4-2	.;.	L	255;292;265	ENSP00000362976:P255L;ENSP00000288065:P292L;ENSP00000362973:P265L	ENSP00000288065:P292L	P	+	2	0	C6orf81	35824396	0.465000	0.25815	0.679000	0.29978	0.078000	0.17371	1.912000	0.39946	1.029000	0.39812	0.655000	0.94253	CCC		0.562	ARMC12-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040311.2	NM_145028		31	77	0	0	0	1	0	31	77					T	35716418	C	T	35716418	3	4	397	1	0	0	0	0	1	0	0	0	2372	623	22	2	897	2	C6orf81	6	35716418	Missense_Mutation	SNP	C	TCGA-ET-A40Q-01A-11D-A23M-08		35716418	135398649	4	8197											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A40Q-01A-11D-A23M-08	TCGA-ET-A40Q-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfe288f0-ec44-4a22-8136-fd5ee948f101	bf959b0c-98bf-4bc9-af29-4fed90522963	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		30	75	0	0	0	1	0	30	75					T	140453136	A	T	140453136	3	4	397	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A40Q-01A-11D-A23M-08		140453136	18685527	5	8198											
POLL	27343	broad.mit.edu	37	chr10	103339245	103339245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaggttctcggtaggggaGgcctaagagcctgaagacat	15	8	1	3			TCGA-ET-A40Q-01A-11D-A23M-08	TCGA-ET-A40Q-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfe288f0-ec44-4a22-8136-fd5ee948f101	bf959b0c-98bf-4bc9-af29-4fed90522963	g.chr10:103339245G>A	ENST00000370162.3	-	9	2187	c.1693C>T	c.(1693-1695)Ctc>Ttc	p.L565F	POLL_ENST00000463515.1_5'UTR|POLL_ENST00000370158.3_Missense_Mutation_p.L290F|DPCD_ENST00000416979.2_Intron|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370169.1_Missense_Mutation_p.L565F|POLL_ENST00000456836.2_Missense_Mutation_p.L302F|POLL_ENST00000339310.3_Missense_Mutation_p.L288F|POLL_ENST00000370168.3_Missense_Mutation_p.L238F|POLL_ENST00000370172.1_Missense_Mutation_p.L477F|POLL_ENST00000299206.4_Missense_Mutation_p.L565F	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	565					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		CGGTAGGGGAGGCCTAAGAGC	0.642								DNA polymerases (catalytic subunits)																														ENST00000370162.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19						c.(1693-1695)Ctc>Ttc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), lambda							73	66	68					10																	103339245		2203	4300	6503	SO:0001583	missense	27343				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding	g.chr10:103339245G>A	AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"DNA polymerases"	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.1693C>T	10.37:g.103339245G>A	ENSP00000359181:p.Leu565Phe					POLL_ENST00000456836.2_Missense_Mutation_p.L302F|POLL_ENST00000299206.4_Missense_Mutation_p.L565F|POLL_ENST00000370168.3_Missense_Mutation_p.L238F|POLL_ENST00000370158.3_Missense_Mutation_p.L290F|DPCD_ENST00000416979.2_Intron|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370172.1_Missense_Mutation_p.L477F|POLL_ENST00000463515.1_5'UTR|POLL_ENST00000370169.1_Missense_Mutation_p.L565F|POLL_ENST00000339310.3_Missense_Mutation_p.L288F	p.L565F	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)	9	2187	-		Colorectal(252;0.234)	565					D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	Missense_Mutation	SNP	ENST00000370162.3	37	c.1693C>T	CCDS7513.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837833	0.71373	.	.	ENSG00000166169	ENST00000299206;ENST00000370169;ENST00000339310;ENST00000370172;ENST00000370168;ENST00000370162;ENST00000370158;ENST00000456836	T;T;T;T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24;0.24;0.24;0.24	4.38	4.38	0.52667	DNA-directed DNA polymerase X (1);	0.153083	0.44688	D	0.000427	T	0.72692	0.3492	M	0.73430	2.235	0.80722	D	1	B;D;D;D;D;D	0.64830	0.441;0.969;0.969;0.994;0.994;0.991	B;P;P;P;P;P	0.59487	0.184;0.582;0.604;0.709;0.858;0.683	T	0.77882	-0.2422	10	0.72032	D	0.01	-0.14	16.7057	0.85371	0.0:0.0:1.0:0.0	.	288;302;290;565;473;238	Q5JQP4;B4DEF5;Q9BTN8;Q9UGP5;A8K860;Q9HBN3	.;.;.;DPOLL_HUMAN;.;.	F	565;565;288;477;238;565;290;302	ENSP00000299206:L565F;ENSP00000359188:L565F;ENSP00000343102:L288F;ENSP00000359191:L477F;ENSP00000359187:L238F;ENSP00000359181:L565F;ENSP00000359177:L290F;ENSP00000390810:L302F	ENSP00000299206:L565F	L	-	1	0	POLL	103329235	1.000000	0.71417	0.989000	0.46669	0.948000	0.59901	3.708000	0.54845	2.252000	0.74401	0.462000	0.41574	CTC		0.642	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1	NM_013274		20	49	0	0	0	1	0	20	49					A	103339245	G	A	103339245	3	1	397	1	0	0	0	0	1	0	0	0	12205	1000	35	2	38	2	POLL	10	103339245	Missense_Mutation	SNP	G	TCGA-ET-A40Q-01A-11D-A23M-08		103339245	32195502	6	8199											
TM7SF2	7108	broad.mit.edu	37	chr11	64880883	64880883	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctggcacctggggggaacTcaggtgagaggggtcctggg	19	10	1	1			TCGA-ET-A40Q-01A-11D-A23M-08	TCGA-ET-A40Q-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfe288f0-ec44-4a22-8136-fd5ee948f101	bf959b0c-98bf-4bc9-af29-4fed90522963	g.chr11:64880883T>G	ENST00000279263.7	+	4	658	c.496T>G	c.(496-498)Tca>Gca	p.S166A	TM7SF2_ENST00000540748.1_Missense_Mutation_p.S50A|AP003068.9_ENST00000528887.1_RNA|TM7SF2_ENST00000531029.1_3'UTR|TM7SF2_ENST00000345348.5_Missense_Mutation_p.S166A	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	166					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	delta14-sterol reductase activity (GO:0050613)			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGGGGGGAACTCAGGTGAGAG	0.567											OREG0021072	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000279263.7																			0				lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(496-498)Tca>Gca		transmembrane 7 superfamily member 2							94	105	102					11																	64880883		1988	4151	6139	SO:0001583	missense	7108				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity	g.chr11:64880883T>G	BC012857	CCDS41669.1, CCDS60846.1	11q13.1	2013-05-23			ENSG00000149809	ENSG00000149809	1.3.1.70		11863	protein-coding gene	gene with protein product	"delta(14)-sterol reductase"	603414				9615229, 9286704	Standard	NM_003273		Approved	ANG1, DHCR14A, NET47	uc001oct.4	O76062	OTTHUMG00000165603	ENST00000279263.7:c.496T>G	11.37:g.64880883T>G	ENSP00000279263:p.Ser166Ala		OREG0021072	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	134	TM7SF2_ENST00000540748.1_Missense_Mutation_p.S50A|TM7SF2_ENST00000531029.1_3'UTR|TM7SF2_ENST00000345348.5_Missense_Mutation_p.S166A	p.S166A	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN			4	658	+			166					A8K4H0|O95982|Q8IY06|Q96E64|Q96GZ1	Missense_Mutation	SNP	ENST00000279263.7	37	c.496T>G	CCDS41669.1	.	.	.	.	.	.	.	.	.	.	T	17.28	3.349072	0.61183	.	.	ENSG00000149809	ENST00000279263;ENST00000524986;ENST00000534371;ENST00000540748;ENST00000525385;ENST00000345348;ENST00000529414	D;D;D;D;D;D;D	0.98329	-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87	4.81	3.65	0.41850	.	0.063724	0.64402	D	0.000005	D	0.98814	0.9600	H	0.95884	3.735	0.35896	D	0.83006	P;D;D	0.54601	0.907;0.958;0.967	P;P;P	0.54664	0.702;0.644;0.758	D	0.99937	1.1369	10	0.72032	D	0.01	-16.1985	8.934	0.35688	0.1665:0.0:0.0:0.8335	.	50;166;166	F5GYV3;O76062-2;O76062	.;.;ERG24_HUMAN	A	166;137;98;50;137;166;166	ENSP00000279263:S166A;ENSP00000435972:S137A;ENSP00000432187:S98A;ENSP00000441215:S50A;ENSP00000433325:S137A;ENSP00000329520:S166A;ENSP00000433275:S166A	ENSP00000279263:S166A	S	+	1	0	TM7SF2	64637459	1.000000	0.71417	0.898000	0.35279	0.193000	0.23685	3.459000	0.53021	0.825000	0.34637	0.459000	0.35465	TCA		0.567	TM7SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385234.1	NM_003273		41	145	0	0	0	1	0	41	145					G	64880883	T	G	64880883	3	3	397	1	0	0	0	0	1	0	0	0	15971	1551	54	5	510	5	TM7SF2	11	64880883	Missense_Mutation	SNP	T	TCGA-ET-A40Q-01A-11D-A23M-08		64880883	70125633	7	8200											
TENC1	23371	broad.mit.edu	37	chr12	53457578	53457578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcccctgggagaatgtgtGtcacctctttgcagagcttg	12	10	2	2			TCGA-ET-A40Q-01A-11D-A23M-08	TCGA-ET-A40Q-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfe288f0-ec44-4a22-8136-fd5ee948f101	bf959b0c-98bf-4bc9-af29-4fed90522963	g.chr12:53457578G>A	ENST00000314250.6	+	29	4432	c.4142G>A	c.(4141-4143)tGt>tAt	p.C1381Y	TENC1_ENST00000451358.1_Missense_Mutation_p.C1371Y|TENC1_ENST00000546602.1_Missense_Mutation_p.C1284Y|TENC1_ENST00000379902.3_Missense_Mutation_p.C1257Y|TENC1_ENST00000552570.1_Missense_Mutation_p.C1379Y|TENC1_ENST00000314276.3_Missense_Mutation_p.C1391Y|TENC1_ENST00000549700.1_Missense_Mutation_p.C1316Y	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	1381					cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GAGAATGTGTGTCACCTCTTT	0.537																																						ENST00000314250.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						c.(4141-4143)tGt>tAt		tensin like C1 domain containing phosphatase (tensin 2)							144	144	144					12																	53457578		2203	4300	6503	SO:0001583	missense	23371				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	g.chr12:53457578G>A	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	19737	protein-coding gene	gene with protein product	"tensin 2"	607717	"tensin like C1 domain-containing phosphatase"				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.4142G>A	12.37:g.53457578G>A	ENSP00000319684:p.Cys1381Tyr					TENC1_ENST00000546602.1_Missense_Mutation_p.C1284Y|TENC1_ENST00000379902.3_Missense_Mutation_p.C1257Y|TENC1_ENST00000314276.3_Missense_Mutation_p.C1391Y|TENC1_ENST00000552570.1_Missense_Mutation_p.C1379Y|TENC1_ENST00000549700.1_Missense_Mutation_p.C1316Y|TENC1_ENST00000451358.1_Missense_Mutation_p.C1371Y	p.C1381Y	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN			29	4432	+			1381					A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	ENST00000314250.6	37	c.4142G>A	CCDS8843.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297055	0.81025	.	.	ENSG00000111077	ENST00000379902;ENST00000314276;ENST00000314250;ENST00000451358;ENST00000443113;ENST00000546602;ENST00000552570;ENST00000549700	T;T;T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09;0.09;0.09	4.81	4.81	0.61882	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);Tensin phosphotyrosine-binding domain (1);	0.120949	0.56097	D	0.000033	T	0.78407	0.4278	M	0.85859	2.78	0.58432	D	0.999999	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	0.999;0.999;0.999;1.0;0.999	T	0.82544	-0.0404	10	0.87932	D	0	.	15.7495	0.77972	0.0:0.0:1.0:0.0	.	1379;1381;1284;1381;1391	Q63HR2-6;A7E2A6;Q63HR2-2;Q63HR2;Q63HR2-4	.;.;.;TENC1_HUMAN;.	Y	1257;1391;1381;1371;753;1284;1379;1316	ENSP00000369232:C1257Y;ENSP00000319756:C1391Y;ENSP00000319684:C1381Y;ENSP00000393362:C1371Y;ENSP00000449363:C1284Y;ENSP00000447021:C1379Y;ENSP00000449361:C1316Y	ENSP00000319684:C1381Y	C	+	2	0	TENC1	51743845	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.015000	0.88690	2.389000	0.81357	0.561000	0.74099	TGT		0.537	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		85	139	0	0	0	1	0	85	139					A	53457578	G	A	53457578	3	1	397	1	0	0	0	0	1	0	0	0	15755	1377	48	2	4365	2	TENC1	12	53457578	Missense_Mutation	SNP	G	TCGA-ET-A40Q-01A-11D-A23M-08		53457578	80394317	8	8201											
OR4N4	283694	broad.mit.edu	37	chr15	22382920	22382921	+	Frame_Shift_Ins	INS	-	-	T													aatgatgttggctctgtggcINSttgggggttttgtccactcc					rs376203024		TCGA-ET-A40Q-01A-11D-A23M-08	TCGA-ET-A40Q-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfe288f0-ec44-4a22-8136-fd5ee948f101	bf959b0c-98bf-4bc9-af29-4fed90522963	g.chr15:22382920_22382921insT	ENST00000328795.4	+	1	539_540	c.448_449insT	c.(448-450)cttfs	p.L150fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GGCTCTGTGGCTTGGGGGTTTT	0.535																																						ENST00000328795.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40						c.(448-450)tggfs		olfactory receptor, family 4, subfamily N, member 4																																				SO:0001589	frameshift_variant	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22382920_22382921insT	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"GPCR / Class A : Olfactory receptors"	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.450dupT	15.37:g.22382922_22382922dupT	ENSP00000332500:p.Leu150fs					RP11-69H14.6_ENST00000558896.1_RNA	p.W150fs	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	539_540	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	150					Q6IEY3|Q6IF56	Frame_Shift_Ins	INS	ENST00000328795.4	37	c.448_449insT	CCDS32173.1																																																																																				0.535	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			59	370						59	370	---	---	---	---	T	22382921	-	T	22382920	7	5	397	1	0	1	1	0	0	0	0	0	11078	797	28	0	450	0	OR4N4	15	22382920	Frame_Shift_Ins	INS	-	TCGA-ET-A40Q-01A-11D-A23M-08		22382920	80148472	9	8202											
SRP14	6727	broad.mit.edu	37	chr15	40328597	40328597	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgttgctgctgcggcaggTgctgctgctgctgctgctgc	16	12	0	0	rs371085676|rs377432895	byFrequency	TCGA-ET-A40Q-01A-11D-A23M-08	TCGA-ET-A40Q-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfe288f0-ec44-4a22-8136-fd5ee948f101	bf959b0c-98bf-4bc9-af29-4fed90522963	g.chr15:40328597T>G	ENST00000267884.6	-	5	419	c.348A>C	c.(346-348)gcA>gcC	p.A116A	SRP14-AS1_ENST00000504245.1_lincRNA|SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000560773.1_Silent_p.A36A|SRP14_ENST00000558720.1_Silent_p.A36A	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	116	Ala/Thr-rich.				cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		ctgcggcaggtgctgctgctg	0.483																																						ENST00000267884.6																			0				endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(346-348)gcA>gcC		signal recognition particle 14kDa (homologous Alu RNA binding protein)							50	52	52					15																	40328597		2203	4300	6503	SO:0001819	synonymous_variant	6727				negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding	g.chr15:40328597T>G		CCDS42017.1	15q22	2008-08-15	2002-08-29		ENSG00000140319	ENSG00000140319			11299	protein-coding gene	gene with protein product		600708	"signal recognition particle 14kD (homologous Alu RNA-binding protein)"			8196634	Standard	NM_003134		Approved	ALURBP, MGC14326	uc001zkq.2	P37108		ENST00000267884.6:c.348A>C	15.37:g.40328597T>G						SRP14_ENST00000560773.1_Silent_p.A36A|SRP14_ENST00000558720.1_Silent_p.A36A|SRP14_ENST00000558527.1_5'UTR	p.A116A	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)	5	419	-		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	116			Ala/Thr-rich.		B5BUF5|Q6B0K5|Q96Q14	Silent	SNP	ENST00000267884.6	37	c.348A>C	CCDS42017.1																																																																																				0.483	SRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418262.2	NM_003134		6	61	0	0	0	1	0	6	61					G	40328597	T	G	40328597	2	3	397	1	0	0	0	0	0	0	0	1	15152	1683	59	5		5	SRP14	15	40328597	Silent	SNP	T	TCGA-ET-A40Q-01A-11D-A23M-08	17945677	40328597	62202795	10	8203											
CHP	11261	broad.mit.edu	37	chr15	41571574	41571574	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agaacagaaaatgagcatccGatttcttcactaaaggagac	8	8	2	4			TCGA-ET-A40Q-01A-11D-A23M-08	TCGA-ET-A40Q-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfe288f0-ec44-4a22-8136-fd5ee948f101	bf959b0c-98bf-4bc9-af29-4fed90522963	g.chr15:41571574G>T	ENST00000334660.5	+	7	815	c.575G>T	c.(574-576)cGa>cTa	p.R192L	CHP1_ENST00000558351.1_3'UTR|CHP1_ENST00000560397.1_Missense_Mutation_p.R151L	NM_007236.4	NP_009167.1	Q99653	CHP1_HUMAN	calcineurin-like EF-hand protein 1	192					calcium ion-dependent exocytosis (GO:0017156)|cellular response to acidic pH (GO:0071468)|cytoplasmic microtubule organization (GO:0031122)|membrane docking (GO:0022406)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|microtubule bundle formation (GO:0001578)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein glycosylation (GO:0060050)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of protein transport (GO:0051222)|positive regulation of sodium:proton antiporter activity (GO:0032417)|potassium ion transport (GO:0006813)|protein export from nucleus (GO:0006611)|protein oligomerization (GO:0051259)|protein stabilization (GO:0050821)|regulation of intracellular pH (GO:0051453)|small GTPase mediated signal transduction (GO:0007264)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|kinase binding (GO:0019900)|microtubule binding (GO:0008017)|potassium channel regulator activity (GO:0015459)|protein kinase inhibitor activity (GO:0004860)|transporter activity (GO:0005215)										ATGAGCATCCGATTTCTTCAC	0.443																																						ENST00000334660.5																			0											c.(574-576)cGa>cTa		calcineurin-like EF-hand protein 1							114	99	104					15																	41571574		2203	4300	6503	SO:0001583	missense	11261				potassium ion transport|small GTPase mediated signal transduction		potassium channel regulator activity	g.chr15:41571574G>T		CCDS10073.1	15q13.3	2013-01-11	2013-01-11		ENSG00000187446	ENSG00000187446		"EF-hand domain containing"	17433	protein-coding gene	gene with protein product	"calcineurin homologous protein"	606988				15987692, 20720019	Standard	NM_007236		Approved	Sid470p, CHP, SLC9A1BP, p22, p24	uc001znl.3	Q99653	OTTHUMG00000130233	ENST00000334660.5:c.575G>T	15.37:g.41571574G>T	ENSP00000335632:p.Arg192Leu					CHP1_ENST00000560397.1_Missense_Mutation_p.R151L|CHP1_ENST00000558351.1_3'UTR	p.R192L	NM_007236.4	NP_009167.1	Q99653	CHP1_HUMAN			7	815	+			192					B2R6H9|Q6FHZ9	Missense_Mutation	SNP	ENST00000334660.5	37	c.575G>T	CCDS10073.1	.	.	.	.	.	.	.	.	.	.	G	36	5.602816	0.96614	.	.	ENSG00000187446	ENST00000334660	T	0.74421	-0.84	5.51	5.51	0.81932	.	0.058905	0.64402	D	0.000001	D	0.85813	0.5784	M	0.86805	2.84	0.80722	D	1	P	0.35050	0.482	P	0.48738	0.588	D	0.87038	0.2139	10	0.87932	D	0	-2.776	18.1792	0.89772	0.0:0.0:1.0:0.0	.	192	Q99653	CHP1_HUMAN	L	192	ENSP00000335632:R192L	ENSP00000335632:R192L	R	+	2	0	AC012652.1	39358866	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.238000	0.95380	2.583000	0.87209	0.591000	0.81541	CGA		0.443	CHP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252554.2	NM_007236		11	49	1	0	1.58986e-06	1	1.76652e-06	11	49					T	41571574	G	T	41571574	3	4	397	1	0	0	0	0	1	0	0	0	3366	1058	37	4	601	4	CHP	15	41571574	Missense_Mutation	SNP	G	TCGA-ET-A40Q-01A-11D-A23M-08	1242977	41571574	60959818	11	8204											
HBM	3042	broad.mit.edu	37	chr16	216306	216306	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaccaaggtctacttcccGcacctgagcgcctgccagga	10	16	1	1			TCGA-ET-A40Q-01A-11D-A23M-08	TCGA-ET-A40Q-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfe288f0-ec44-4a22-8136-fd5ee948f101	bf959b0c-98bf-4bc9-af29-4fed90522963	g.chr16:216306G>A	ENST00000356815.3	+	2	152	c.132G>A	c.(130-132)ccG>ccA	p.P44P	HBM_ENST00000472539.1_3'UTR	NM_001003938.3	NP_001003938.1	Q6B0K9	HBM_HUMAN	hemoglobin, mu	44						extracellular vesicular exosome (GO:0070062)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)						all_cancers(16;1.62e-06)|all_epithelial(16;4.01e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				TCTACTTCCCGCACCTGAGCG	0.701																																						ENST00000356815.3																			0											c.(130-132)ccG>ccA		hemoglobin, mu							14	13	13					16																	216306		2196	4296	6492	SO:0001819	synonymous_variant	3042					hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr16:216306G>A	BC035682	CCDS32347.1	16p13.3	2014-05-19	2006-05-12	2006-05-12	ENSG00000206177	ENSG00000206177			4826	protein-coding gene	gene with protein product		609639	"hemoglobin, alpha pseudogene 2"	HBAP2		2649166, 2825132, 15855277	Standard	NM_001003938		Approved	HBK	uc002cfu.1	Q6B0K9	OTTHUMG00000059926	ENST00000356815.3:c.132G>A	16.37:g.216306G>A						HBM_ENST00000472539.1_3'UTR	p.P44P	NM_001003938.3	NP_001003938.1	Q6B0K9	HBM_HUMAN			2	152	+		all_cancers(16;1.62e-06)|all_epithelial(16;4.01e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)	44						Silent	SNP	ENST00000356815.3	37	c.132G>A	CCDS32347.1																																																																																				0.701	HBM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133201.1	NM_001003938		3	17	0	0	0	1	0	3	17					A	216306	G	A	216306	2	1	397	1	0	0	0	0	0	0	0	1	6984	1074	38	1		1	HBM	16	216306	Silent	SNP	G	TCGA-ET-A40Q-01A-11D-A23M-08		216306	90138447	12	8205											
ARSG	22901	broad.mit.edu	37	chr17	66347794	66347794	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctacaaccaccctccttGtccagcgtgtccacagggtg	10	15	0	0			TCGA-ET-A40Q-01A-11D-A23M-08	TCGA-ET-A40Q-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfe288f0-ec44-4a22-8136-fd5ee948f101	bf959b0c-98bf-4bc9-af29-4fed90522963	g.chr17:66347794G>A	ENST00000448504.2	+	5	1329	c.533G>A	c.(532-534)tGt>tAt	p.C178Y	ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_Missense_Mutation_p.C14Y	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	178					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CACCCTCCTTGTCCAGCGTGT	0.483																																						ENST00000448504.2																			0				NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26						c.(532-534)tGt>tAt		arylsulfatase G							145	117	127					17																	66347794		2203	4300	6503	SO:0001583	missense	22901				sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding	g.chr17:66347794G>A	AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"Arylsulfatase family"	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.533G>A	17.37:g.66347794G>A	ENSP00000407193:p.Cys178Tyr					ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_Missense_Mutation_p.C14Y	p.C178Y	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)		5	1329	+			178					Q6UXF2|Q9Y2K4	Missense_Mutation	SNP	ENST00000448504.2	37	c.533G>A	CCDS11676.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096480	0.76870	.	.	ENSG00000141337	ENST00000452479;ENST00000448504	.	.	.	5.43	5.43	0.79202	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.131705	0.50627	D	0.000102	T	0.60353	0.2262	N	0.21617	0.685	0.50467	D	0.999872	D	0.76494	0.999	D	0.72982	0.979	T	0.50154	-0.8861	9	0.02654	T	1	.	19.0206	0.92912	0.0:0.0:1.0:0.0	.	178	Q96EG1	ARSG_HUMAN	Y	178;77	.	ENSP00000407193:C77Y	C	+	2	0	ARSG	63859389	1.000000	0.71417	0.980000	0.43619	0.745000	0.42441	8.478000	0.90428	2.824000	0.97209	0.655000	0.94253	TGT		0.483	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448369.1	NM_014960		50	87	0	0	0	1	0	50	87					A	66347794	G	A	66347794	3	1	397	1	0	0	0	0	1	0	0	0	992	1377	48	2	547	2	ARSG	17	66347794	Missense_Mutation	SNP	G	TCGA-ET-A40Q-01A-11D-A23M-08		66347794	14847416	13	8206											
ZNF492	57615	broad.mit.edu	37	chr19	22847457	22847457	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccaccttactacacataagaGaattcattctggagagaaac	6	10	2	2	rs375301915		TCGA-ET-A40Q-01A-11D-A23M-08	TCGA-ET-A40Q-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfe288f0-ec44-4a22-8136-fd5ee948f101	bf959b0c-98bf-4bc9-af29-4fed90522963	g.chr19:22847457G>C	ENST00000456783.2	+	4	1230	c.986G>C	c.(985-987)aGa>aCa	p.R329T	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	329					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.R329I(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ACACATAAGAGAATTCATTCT	0.378																																						ENST00000456783.2																			1	Substitution - Missense(1)	p.R329I(1)	large_intestine(1)	endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(985-987)aGa>aCa		zinc finger protein 492							22	25	24					19																	22847457		2060	4237	6297	SO:0001583	missense	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22847457G>C	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"Zinc fingers, C2H2-type"	23707	protein-coding gene	gene with protein product			"zinc finger protein 115 (Y20)"	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.986G>C	19.37:g.22847457G>C	ENSP00000413660:p.Arg329Thr						p.R329T	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN			4	1230	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	329					Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	c.986G>C	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	1.151	-0.646515	0.03531	.	.	ENSG00000229676	ENST00000456783	T	0.02421	4.3	1.12	-2.25	0.06888	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08313	0.0207	M	0.74258	2.255	0.25853	N	0.983915	D	0.58268	0.982	P	0.58331	0.837	T	0.07271	-1.0781	9	0.44086	T	0.13	.	5.9348	0.19158	0.3873:0.0:0.6127:0.0	.	329	Q9P255	ZN492_HUMAN	T	329	ENSP00000413660:R329T	ENSP00000413660:R329T	R	+	2	0	ZNF492	22639297	0.000000	0.05858	0.014000	0.15608	0.013000	0.08279	-0.101000	0.10973	-0.812000	0.04363	-0.798000	0.03219	AGA		0.378	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		5	33	0	0	0	1	0	5	33					C	22847457	G	C	22847457	3	2	397	1	0	0	0	0	1	0	0	0	17940	942	33	4	996	4	ZNF492	19	22847457	Missense_Mutation	SNP	G	TCGA-ET-A40Q-01A-11D-A23M-08		22847457	36281526	14	8207											
PSMC4	5704	broad.mit.edu	37	chr19	40480666	40480666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcgatcccccccgaggcGtcctcatgtatggcccacct	9	18	1	0	rs576365261		TCGA-ET-A40Q-01A-11D-A23M-08	TCGA-ET-A40Q-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfe288f0-ec44-4a22-8136-fd5ee948f101	bf959b0c-98bf-4bc9-af29-4fed90522963	g.chr19:40480666G>A	ENST00000157812.2	+	6	802	c.604G>A	c.(604-606)Gtc>Atc	p.V202I	PSMC4_ENST00000455878.2_Missense_Mutation_p.V171I	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	202					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)|ATP catabolic process (GO:0006200)|blastocyst development (GO:0001824)|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 ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|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)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|inclusion body (GO:0016234)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CCCCCGAGGCGTCCTCATGTA	0.622																																					Colon(105;1478 1543 4034 6132 38638)	ENST00000157812.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(604-606)Gtc>Atc		proteasome (prosome, macropain) 26S subunit, ATPase, 4							81	71	75					19																	40480666		2203	4300	6503	SO:0001583	missense	5704				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 ubiquitin-protein ligase activity involved in mitotic cell cycle|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|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr19:40480666G>A	U27515	CCDS12547.1, CCDS46076.1	19q13.11-q13.13	2010-04-21			ENSG00000013275	ENSG00000013275		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9551	protein-coding gene	gene with protein product	"protease 26S subunit 6", "Tat-binding protein 7", "MB67 interacting protein"	602707		MIP224		9473509, 8603043	Standard	NM_006503		Approved	TBP7, S6, MGC8570, MGC13687, MGC23214, TBP-7	uc002omq.4	P43686		ENST00000157812.2:c.604G>A	19.37:g.40480666G>A	ENSP00000157812:p.Val202Ile					PSMC4_ENST00000455878.2_Missense_Mutation_p.V171I	p.V202I	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN			6	802	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		202					Q96FV5|Q9UBM3|Q9UEX3	Missense_Mutation	SNP	ENST00000157812.2	37	c.604G>A	CCDS12547.1	.	.	.	.	.	.	.	.	.	.	g	17.67	3.447948	0.63178	.	.	ENSG00000013275	ENST00000157812;ENST00000455878	D;D	0.94966	-3.57;-3.57	4.77	4.77	0.60923	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.94255	0.8155	N	0.17674	0.51	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68765	0.923;0.96	D	0.95317	0.8417	10	0.72032	D	0.01	-9.4789	15.6412	0.77006	0.0:0.0:1.0:0.0	.	171;202	P43686-2;P43686	.;PRS6B_HUMAN	I	202;171	ENSP00000157812:V202I;ENSP00000413869:V171I	ENSP00000157812:V202I	V	+	1	0	PSMC4	45172506	1.000000	0.71417	0.972000	0.41901	0.019000	0.09904	9.237000	0.95368	2.343000	0.79666	0.561000	0.74099	GTC		0.622	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462485.1	NM_006503		24	54	0	0	0	1	0	24	54					A	40480666	G	A	40480666	3	1	397	1	0	0	0	0	1	0	0	0	12689	1145	40	1	626	1	PSMC4	19	40480666	Missense_Mutation	SNP	G	TCGA-ET-A40Q-01A-11D-A23M-08	17633209	40480666	18648317	15	8208											
TCN2	6948	broad.mit.edu	37	chr22	31010337	31010337	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtttttttccctctcaggGcatgatcacaagggccaccc	8	14	2	1			TCGA-ET-A40Q-01A-11D-A23M-08	TCGA-ET-A40Q-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfe288f0-ec44-4a22-8136-fd5ee948f101	bf959b0c-98bf-4bc9-af29-4fed90522963	g.chr22:31010337G>A	ENST00000215838.3	+	4	923	c.429G>A	c.(427-429)ggG>ggA	p.G143G	TCN2_ENST00000405742.3_Splice_Site_p.G139G|TCN2_ENST00000407817.3_Splice_Site_p.W116*			P20062	TCO2_HUMAN	transcobalamin II	143					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)	p.G143G(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCCTCTCAGGGCATGATCACA	0.622																																						ENST00000215838.3																			1	Substitution - coding silent(1)	p.G143G(1)	kidney(1)	central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22						c.e4-1		transcobalamin II	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						85	68	73					22																	31010337		2203	4300	6503	SO:0001630	splice_region_variant	6948				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding	g.chr22:31010337G>A		CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"macrocytic anemia"	613441	"transcobalamin II; macrocytic anemia"			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.428-1G>A	22.37:g.31010337G>A						TCN2_ENST00000405742.3_Splice_Site_p.G139_splice|TCN2_ENST00000407817.3_Splice_Site_p.W116_splice	p.G143_splice			P20062	TCO2_HUMAN			4	923	+			143					Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Splice_Site	SNP	ENST00000215838.3	37	c.427_splice	CCDS13881.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.540780	0.45280	.	.	ENSG00000185339	ENST00000407817	.	.	.	5.18	-6.58	0.01836	.	.	.	.	.	.	.	.	.	.	.	0.51012	D	0.9999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	0.8996	0.01271	0.2761:0.279:0.2601:0.1848	.	.	.	.	X	116	.	ENSP00000384914:W116X	W	+	3	0	TCN2	29340337	0.000000	0.05858	0.008000	0.14137	0.007000	0.05969	-2.217000	0.01220	-1.503000	0.01812	-1.358000	0.01219	TGG		0.622	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321282.2	NM_000355	Silent	6	37	0	0	0	1	0	6	37					A	31010337	G	A	31010337	5	1	397	1	0	0	0	0	0	0	1	0	15704	1217	42	2	443	2	TCN2	22	31010337	Splice_Site	SNP	G	TCGA-ET-A40Q-01A-11D-A23M-08		31010337	20294229	16	8209											
FGD1	2245	broad.mit.edu	37	chrX	54496615	54496615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagccagggcagggggcccaGggcagaggctgtggctgggg	22	9	0	1	rs28935498		TCGA-ET-A40Q-01A-11D-A23M-08	TCGA-ET-A40Q-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfe288f0-ec44-4a22-8136-fd5ee948f101	bf959b0c-98bf-4bc9-af29-4fed90522963	g.chrX:54496615G>A	ENST00000375135.3	-	4	1668	c.935C>T	c.(934-936)cCt>cTt	p.P312L		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	312	Pro-rich.		P -> L (in non-syndromal X-linked mental retardation; dbSNP:rs28935498). {ECO:0000269|PubMed:11940089}.		actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGGGGGCCCAGGGCAGAGGCT	0.662																																						ENST00000375135.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39	GRCh37	CM020698	FGD1	M	rs28935498	c.(934-936)cCt>cTt		FYVE, RhoGEF and PH domain containing 1		G	LEU/PRO	0,3834		0,0,0,1632,570	27	21	23	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	935	3.8	1.0	X	dbSNP_125	23	7,6717		0,5,2,2422,1868	yes	missense	FGD1	NM_004463.2	98	0,5,2,4054,2438	AA,AG,A,GG,G		0.1041,0.0,0.0663	benign	312/962	54496615	7,10551	2202	4297	6499	SO:0001583	missense	2245				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chrX:54496615G>A	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	3663	protein-coding gene	gene with protein product		300546	"faciogenital dysplasia (Aarskog-Scott syndrome)"	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.935C>T	X.37:g.54496615G>A	ENSP00000364277:p.Pro312Leu						p.P312L	NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN			4	1668	-			312		P -> L (in non-syndromal X-linked mental retardation; dbSNP:rs28935498).	Pro-rich.		Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	c.935C>T	CCDS14359.1	1	6.027727546714888E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.78	3.216619	0.58452	0.0	0.001041	ENSG00000102302	ENST00000375135	T	0.74737	-0.87	5.56	3.79	0.43588	.	0.119965	0.38381	N	0.001707	T	0.56031	0.1958	N	0.14661	0.345	0.41204	A	0.986398	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.58278	-0.7664	9	0.59425	D	0.04	-10.8822	8.8244	0.35045	0.1825:0.0:0.8175:0.0	rs28935498	70;312	B4DS99;P98174	.;FGD1_HUMAN	L	312	ENSP00000364277:P312L	ENSP00000364277:P312L	P	-	2	0	FGD1	54513340	1.000000	0.71417	0.999000	0.59377	0.839000	0.47603	3.462000	0.53042	0.538000	0.28769	0.436000	0.28706	CCT		0.662	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		2	8	0	0	0	1	0	2	8					A	54496615	G	A	54496615	3	1	397	1	0	0	0	0	1	0	0	0	5832	1000	35	2	2010	2	FGD1	23	54496615	Missense_Mutation	SNP	G	TCGA-ET-A40Q-01A-11D-A23M-08		54496615	100773945	17	8210											
LMAN2L	81562	broad.mit.edu	37	chr2	97403762	97403762	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actgggtcatcaccatggcaTtgcccatcagattccacagt	8	13	3	1			TCGA-ET-A40R-01A-11D-A23M-08	TCGA-ET-A40R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa48b79b-4172-4fce-852d-69130744fa7a	e91a247a-8cd1-48a3-8e7e-8a12644402ab	g.chr2:97403762T>A	ENST00000264963.4	-	2	252	c.230A>T	c.(229-231)aAt>aTt	p.N77I	LMAN2L_ENST00000534882.1_Intron|LMAN2L_ENST00000426463.2_5'UTR|LMAN2L_ENST00000537039.1_Intron|LMAN2L_ENST00000377079.4_Missense_Mutation_p.N77I	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	77	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						CACCATGGCATTGCCCATCAG	0.488																																						ENST00000264963.4																			0				NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						c.(229-231)aAt>aTt		lectin, mannose-binding 2-like							153	131	139					2																	97403762		2203	4300	6503	SO:0001583	missense	81562				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding	g.chr2:97403762T>A	AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453	ENST00000264963.4:c.230A>T	2.37:g.97403762T>A	ENSP00000264963:p.Asn77Ile					LMAN2L_ENST00000377079.4_Missense_Mutation_p.N77I|LMAN2L_ENST00000534882.1_Intron|LMAN2L_ENST00000426463.2_5'UTR|LMAN2L_ENST00000537039.1_Intron	p.N77I	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN			2	252	-			77			L-type lectin-like.		B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	Missense_Mutation	SNP	ENST00000264963.4	37	c.230A>T	CCDS2023.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.968959	0.74131	.	.	ENSG00000114988	ENST00000264963;ENST00000377079	T;T	0.65916	-0.18;-0.18	5.42	1.35	0.21983	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.097527	0.64402	D	0.000002	T	0.66973	0.2844	M	0.82056	2.57	0.80722	D	1	P;B	0.35174	0.488;0.15	B;B	0.43680	0.301;0.427	T	0.65755	-0.6091	10	0.87932	D	0	.	8.8589	0.35245	0.0:0.2431:0.0:0.7569	.	77;77	Q9H0V9-2;Q9H0V9	.;LMA2L_HUMAN	I	77	ENSP00000264963:N77I;ENSP00000366280:N77I	ENSP00000264963:N77I	N	-	2	0	LMAN2L	96767489	1.000000	0.71417	0.993000	0.49108	0.959000	0.62525	2.542000	0.45744	-0.000000	0.14550	-0.379000	0.06801	AAT		0.488	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252844.1	NM_030805		10	26	0	0	0	1	0	10	26					A	97403762	T	A	97403762	3	1	398	1	0	0	0	0	1	0	0	0	8839	1493	52	5	881	5	LMAN2L	2	97403762	Missense_Mutation	SNP	T	TCGA-ET-A40R-01A-11D-A23M-08		97403762	145795611	1	8211											
SLC22A14	9389	broad.mit.edu	37	chr3	38357962	38357962	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctctcctccctgctgccGgaaacgcgagatcagcccct	8	19	2	1	rs149735987	byFrequency	TCGA-ET-A40R-01A-11D-A23M-08	TCGA-ET-A40R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa48b79b-4172-4fce-852d-69130744fa7a	e91a247a-8cd1-48a3-8e7e-8a12644402ab	g.chr3:38357962G>A	ENST00000273173.4	+	9	1771	c.1680G>A	c.(1678-1680)ccG>ccA	p.P560P	SLC22A14_ENST00000448498.1_Silent_p.P560P	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	560			P -> R (in dbSNP:rs240033). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CCCTGCTGCCGGAAACGCGAG	0.612													G|||	8	0.00159744	0.0053	0.0014	5008	,	,		20099	0		0	False		,,,				2504	0					ENST00000273173.4																			0				central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21						c.(1678-1680)ccG>ccA		solute carrier family 22, member 14		G		44,4362	47.5+/-82.1	0,44,2159	98	77	84		1680	-8.4	0.0	3	dbSNP_134	84	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC22A14	NM_004803.3		0,45,6458	AA,AG,GG		0.0116,0.9986,0.346		560/595	38357962	45,12961	2203	4300	6503	SO:0001819	synonymous_variant	9389					integral to plasma membrane	organic cation transmembrane transporter activity	g.chr3:38357962G>A	AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"Solute carriers"	8495	protein-coding gene	gene with protein product		604048	"organic cationic transporter-like 4", "solute carrier family 22 (organic cation transporter), member 14"	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.1680G>A	3.37:g.38357962G>A						SLC22A14_ENST00000448498.1_Silent_p.P560P	p.P560P	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)	9	1771	+			560		P -> R (in dbSNP:rs240033).			A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Silent	SNP	ENST00000273173.4	37	c.1680G>A	CCDS2677.1																																																																																				0.612	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253742.3	NM_004803		13	43	0	0	0	1	0	13	43					A	38357962	G	A	38357962	2	1	398	1	0	0	0	0	0	0	0	1	14445	1103	39	1		1	SLC22A14	3	38357962	Silent	SNP	G	TCGA-ET-A40R-01A-11D-A23M-08		38357962	159664468	2	8212											
EPN1	29924	broad.mit.edu	37	chr19	56206611	56206611	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtctcagtcctgtgcctccCgtccctggagcgccacccac	9	20	1	0	rs537275978		TCGA-ET-A40R-01A-11D-A23M-08	TCGA-ET-A40R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa48b79b-4172-4fce-852d-69130744fa7a	e91a247a-8cd1-48a3-8e7e-8a12644402ab	g.chr19:56206611C>T	ENST00000270460.6	+	11	1931	c.1620C>T	c.(1618-1620)ccC>ccT	p.P540P	AC010525.7_ENST00000589698.1_lincRNA|AC010525.4_ENST00000585559.1_RNA|EPN1_ENST00000085079.7_Silent_p.P514P|EPN1_ENST00000411543.2_Silent_p.P626P|AC010525.6_ENST00000587937.1_lincRNA	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	540	3 X 3 AA repeats of N-P-F.|Ala/Gly/Pro-rich.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CTGTGCCTCCCGTCCCTGGAG	0.716													c|||	1	0.000199681	0	0	5008	,	,		12678	0		0	False		,,,				2504	0.001					ENST00000411543.2																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17						c.(1876-1878)ccC>ccT		epsin 1							24	28	26					19																	56206611		2058	4184	6242	SO:0001819	synonymous_variant	29924				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding	g.chr19:56206611C>T	AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.1620C>T	19.37:g.56206611C>T						EPN1_ENST00000085079.7_Silent_p.P514P|EPN1_ENST00000270460.6_Silent_p.P540P	p.P626P	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN		GBM - Glioblastoma multiforme(193;0.112)	11	2425	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	540					Q86ST3|Q9HA18	Silent	SNP	ENST00000270460.6	37	c.1878C>T	CCDS46199.1																																																																																				0.716	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453610.1	NM_013333		13	39	0	0	0	1	0	13	39					T	56206611	C	T	56206611	2	4	398	1	0	0	0	0	0	0	0	1	5185	639	23	1		1	EPN1	19	56206611	Silent	SNP	C	TCGA-ET-A40R-01A-11D-A23M-08		56206611	2922372	3	8213											
ARHGAP29	9411	broad.mit.edu	37	chr1	94652132	94652132	+	Frame_Shift_Del	DEL	G	G	-													ttccactggatggtgttcgtGgaagttttcgatgaaagtct							TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr1:94652132delG	ENST00000260526.6	-	16	1885	c.1703delC	c.(1702-1704)ccafs	p.P568fs	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	568					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)		TGGTGTTCGTGGAAGTTTTCG	0.378																																						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.(1702-1704)cafs		Rho GTPase activating protein 29							168	167	168					1																	94652132		2203	4300	6503	SO:0001589	frameshift_variant	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94652132delG		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.1703delC	1.37:g.94652132delG	ENSP00000260526:p.Pro568fs					ARHGAP29_ENST00000482481.1_5'UTR	p.P568fs	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	16	1885	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	568					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Frame_Shift_Del	DEL	ENST00000260526.6	37	c.1703delC	CCDS748.1																																																																																				0.378	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		22	118						22	118	---	---	---	---	-	94652132	G	-	94652132	7	5	399	1	0	1	0	1	0	0	0	0	878	1348	47	0	2114	0	ARHGAP29	1	94652132	Frame_Shift_Del	DEL	G	TCGA-ET-A40S-01A-11D-A23M-08		94652132	154598489	1	8214											
LEMD1	93273	broad.mit.edu	37	chr1	205350961	205350961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtcccatatgtgattctgGtgcttggtgctcttgcagcc	11	10	2	1			TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr1:205350961G>A	ENST00000367153.4	-	6	473	c.371C>T	c.(370-372)aCc>aTc	p.T124I	LEMD1_ENST00000367154.1_Missense_Mutation_p.P77S|LEMD1_ENST00000367151.2_Missense_Mutation_p.T83I|LEMD1_ENST00000367149.3_Missense_Mutation_p.P36S|LEMD1_ENST00000367152.1_Missense_Mutation_p.T83I|LEMD1_ENST00000391936.2_Missense_Mutation_p.P77S|LEMD1-AS1_ENST00000447832.1_RNA|LEMD1_ENST00000476884.1_5'UTR	NM_001199050.1	NP_001185979.1	Q68G75	LEMD1_HUMAN	LEM domain containing 1	124						integral component of membrane (GO:0016021)				breast(1)|lung(2)	3	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			TGTGATTCTGGTGCTTGGTGC	0.512																																						ENST00000367153.4																			0				breast(1)|lung(2)	3						c.(370-372)aCc>aTc		LEM domain containing 1							221	193	203					1																	205350961		2203	4300	6503	SO:0001583	missense	93273					integral to membrane|nuclear envelope		g.chr1:205350961G>A		CCDS30986.1, CCDS55677.1, CCDS55678.1, CCDS55679.1	1q32.1	2009-03-25			ENSG00000186007	ENSG00000186007			18725	protein-coding gene	gene with protein product	"cancer/testis antigen 50"	610480				15254688	Standard	NM_001199050		Approved	LEMP-1, CT50	uc001hcj.2	Q68G75	OTTHUMG00000037201	ENST00000367153.4:c.371C>T	1.37:g.205350961G>A	ENSP00000356121:p.Thr124Ile					LEMD1_ENST00000391936.2_Missense_Mutation_p.P77S|LEMD1-AS1_ENST00000447832.1_RNA|LEMD1_ENST00000367149.3_Missense_Mutation_p.P36S|LEMD1_ENST00000367152.1_Missense_Mutation_p.T83I|LEMD1_ENST00000367151.2_Missense_Mutation_p.T83I|LEMD1_ENST00000476884.1_5'UTR|LEMD1_ENST00000367154.1_Missense_Mutation_p.P77S	p.T124I	NM_001199050.1	NP_001185979.1	Q68G75	LEMD1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0938)		6	473	-	Breast(84;0.247)		124					Q6L9T9|Q6L9U0|Q6L9U1|Q6L9U2|Q6L9U3|Q6L9U4	Missense_Mutation	SNP	ENST00000367153.4	37	c.371C>T	CCDS55679.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.76|11.76	1.735113|1.735113	0.30774|0.30774	.|.	.|.	ENSG00000186007|ENSG00000186007	ENST00000367154;ENST00000391936;ENST00000367149|ENST00000367152;ENST00000367153;ENST00000367151	T;T;T|T;T;T	0.58358|0.45668	0.95;0.95;0.34|0.89;0.89;0.89	4.31|4.31	-1.56|-1.56	0.08532|0.08532	.|.	.|1.535450	.|0.03609	.|N	.|0.234517	T|T	0.28928|0.28928	0.0718|0.0718	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|B;B	0.26483|0.16396	0.15|0.017;0.002	B|B;B	0.23852|0.10450	0.049|0.005;0.002	T|T	0.20338|0.20338	-1.0278|-1.0278	8|9	0.87932|0.46703	D|T	0|0.11	-22.5303|-22.5303	4.7233|4.7233	0.12929|0.12929	0.4016:0.1537:0.4447:0.0|0.4016:0.1537:0.4447:0.0	.|.	77|83;124	Q68G75-5|Q68G75-3;Q68G75	.|.;LEMD1_HUMAN	S|I	77;77;36|83;124;83	ENSP00000356122:P77S;ENSP00000375801:P77S;ENSP00000356117:P36S|ENSP00000356120:T83I;ENSP00000356121:T124I;ENSP00000356119:T83I	ENSP00000356117:P36S|ENSP00000356119:T83I	P|T	-|-	1|2	0|0	LEMD1|LEMD1	203617584|203617584	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.010000|0.010000	0.07245|0.07245	-0.071000|-0.071000	0.11505|0.11505	-0.383000|-0.383000	0.07858|0.07858	-0.163000|-0.163000	0.13421|0.13421	CCA|ACC		0.512	LEMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090401.1	NM_001001552		54	108	0	0	0	1	0	54	108					A	205350961	G	A	205350961	3	1	399	1	0	0	0	0	1	0	0	0	8719	1261	44	2	101	2	LEMD1	1	205350961	Missense_Mutation	SNP	G	TCGA-ET-A40S-01A-11D-A23M-08	110698829	205350961	43899660	2	8215											
NID1	4811	broad.mit.edu	37	chr1	236157113	236157113	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgggtcgctgtgggtctgTcgcccccgctgccccgagaa	14	14	1	1	rs146903405	byFrequency	TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr1:236157113T>C	ENST00000264187.6	-	13	2669	c.2587A>G	c.(2587-2589)Aca>Gca	p.T863A	NID1_ENST00000366595.3_Missense_Mutation_p.T730A	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	863	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	TGTGGGTCTGTCGCCCCCGCT	0.632													C|||	2	0.000399361	0	0	5008	,	,		15923	0		0.002	False		,,,				2504	0					ENST00000264187.6																			0				breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66						c.(2587-2589)Aca>Gca		nidogen 1	Becaplermin(DB00102)|Urokinase(DB00013)	C	ALA/THR	1,4405	820.1+/-416.4	0,1,2202	36	38	37		2587	-0.9	0.0	1	dbSNP_134	37	17,8583	813.9+/-407.0	0,17,4283	yes	missense	NID1	NM_002508.2	58	0,18,6485	CC,CT,TT		0.1977,0.0227,0.1384	benign	863/1248	236157113	18,12988	2203	4300	6503	SO:0001583	missense	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236157113T>C	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"nidogen (enactin)"	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.2587A>G	1.37:g.236157113T>C	ENSP00000264187:p.Thr863Ala					NID1_ENST00000366595.3_Missense_Mutation_p.T730A	p.T863A	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		13	2669	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	863			Thyroglobulin type-1.		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	c.2587A>G	CCDS1608.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	5.066	0.197760	0.09652	2.27E-4	0.001977	ENSG00000116962	ENST00000264187;ENST00000366595	T;T	0.62498	0.02;0.02	4.88	-0.891	0.10573	Thyroglobulin type-1 (3);	1.317470	0.04934	N	0.457419	T	0.44767	0.1309	N	0.21448	0.665	0.09310	N	1	B;B	0.20164	0.042;0.0	B;B	0.19391	0.025;0.002	T	0.19877	-1.0292	10	0.19147	T	0.46	.	6.5024	0.22176	0.0:0.3777:0.1274:0.4949	.	730;863	P14543-2;P14543	.;NID1_HUMAN	A	863;730	ENSP00000264187:T863A;ENSP00000355554:T730A	ENSP00000264187:T863A	T	-	1	0	NID1	234223736	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	0.217000	0.17603	-0.102000	0.12197	-0.374000	0.07098	ACA		0.632	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		5	42	0	0	0	1	0	5	42					C	236157113	T	C	236157113	3	2	399	1	0	0	0	0	1	0	0	0	10414	1667	58	3	1188	3	NID1	1	236157113	Missense_Mutation	SNP	T	TCGA-ET-A40S-01A-11D-A23M-08	30806152	236157113	13093508	3	8216											
TRAK1	22906	broad.mit.edu	37	chr3	42167045	42167045	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctccatacacctctcatTtctccagatgccaacattga	5	14	2	2			TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr3:42167045T>G	ENST00000327628.5	+	2	625	c.225T>G	c.(223-225)atT>atG	p.I75M	TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	75	HAP1 N-terminal.				endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CACCTCTCATTTCTCCAGATG	0.463																																					GBM(44;195 884 22595 31865 41850)	ENST00000327628.5																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(223-225)atT>atG		trafficking protein, kinesin binding 1							148	139	142					3																	42167045		1962	4151	6113	SO:0001583	missense	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42167045T>G		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"OGT(O Glc NAc transferase) interacting protein 106 KDa", "O-linked N-acetylglucosamine transferase interacting protein 106", "milton homolog 1 (Drosophila)"	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.225T>G	3.37:g.42167045T>G	ENSP00000328998:p.Ile75Met					TRAK1_ENST00000487159.1_3'UTR	p.I75M	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN			2	625	+			75			HAP1 N-terminal.		E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	ENST00000327628.5	37	c.225T>G	CCDS43072.1	.	.	.	.	.	.	.	.	.	.	T	14.15	2.449698	0.43531	.	.	ENSG00000182606	ENST00000327628;ENST00000543338	T	0.16897	2.31	5.73	-0.277	0.12898	.	0.272610	0.33670	N	0.004662	T	0.09686	0.0238	N	0.22421	0.69	0.80722	D	1	P;B	0.39022	0.655;0.304	B;B	0.39771	0.309;0.214	T	0.25433	-1.0132	10	0.30078	T	0.28	.	6.4178	0.21725	0.0:0.3471:0.1282:0.5246	.	75;75	B7Z347;Q9UPV9	.;TRAK1_HUMAN	M	75	ENSP00000328998:I75M	ENSP00000328998:I75M	I	+	3	3	TRAK1	42142049	0.981000	0.34729	0.994000	0.49952	0.997000	0.91878	0.160000	0.16462	-0.037000	0.13646	0.533000	0.62120	ATT		0.463	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		50	99	0	0	0	1	0	50	99					G	42167045	T	G	42167045	3	3	399	1	0	0	0	0	1	0	0	0	16446	1829	64	5	231	5	TRAK1	3	42167045	Missense_Mutation	SNP	T	TCGA-ET-A40S-01A-11D-A23M-08		42167045	155855385	4	8217											
UBA7	7318	broad.mit.edu	37	chr3	49847804	49847804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtaggtgagcgggatcaCctgtaagtctgggttcaggc	17	7	3	1	rs115185290	byFrequency	TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr3:49847804C>T	ENST00000333486.3	-	13	1683	c.1525G>A	c.(1525-1527)Gtg>Atg	p.V509M	UBA7_ENST00000494212.1_5'Flank	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	509	2 approximate repeats.				cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AGCGGGATCACCTGTAAGTCT	0.582													C|||	6	0.00119808	0	0.0029	5008	,	,		18972	0		0.003	False		,,,				2504	0.001					ENST00000333486.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33						c.(1525-1527)Gtg>Atg		ubiquitin-like modifier activating enzyme 7		C	MET/VAL	3,4403	6.2+/-15.9	0,3,2200	93	97	96		1525	5.7	0.4	3	dbSNP_132	96	42,8558	27.9+/-77.7	0,42,4258	yes	missense	UBA7	NM_003335.2	21	0,45,6458	TT,TC,CC		0.4884,0.0681,0.346	probably-damaging	509/1013	49847804	45,12961	2203	4300	6503	SO:0001583	missense	7318				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	g.chr3:49847804C>T	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"Ubiquitin-like modifier activating enzymes"	12471	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)", "UBA7, ubiquitin-activating enzyme E1"	191325	"ubiquitin-activating enzyme E1-like"	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.1525G>A	3.37:g.49847804C>T	ENSP00000333266:p.Val509Met						p.V509M	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	13	1683	-			509			2 approximate repeats.		Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	37	c.1525G>A	CCDS2805.1	3	0.0013736263736263737	0	0.0	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	C	16.76	3.211115	0.58343	6.81E-4	0.004884	ENSG00000182179	ENST00000333486	T	0.55234	0.53	5.67	5.67	0.87782	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.122178	0.56097	D	0.000025	T	0.73869	0.3642	H	0.95745	3.715	0.43798	D	0.996347	D	0.53312	0.959	P	0.58130	0.833	D	0.83691	0.0177	10	0.72032	D	0.01	-14.5634	19.7607	0.96316	0.0:1.0:0.0:0.0	.	509	P41226	UBA7_HUMAN	M	509	ENSP00000333266:V509M	ENSP00000333266:V509M	V	-	1	0	UBA7	49822808	0.993000	0.37304	0.423000	0.26634	0.300000	0.27592	2.803000	0.47924	2.686000	0.91538	0.561000	0.74099	GTG		0.582	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		9	125	0	0	0	1	0	9	125					T	49847804	C	T	49847804	3	4	399	1	0	0	0	0	1	0	0	0	16830	507	18	2	1561	2	UBA7	3	49847804	Missense_Mutation	SNP	C	TCGA-ET-A40S-01A-11D-A23M-08	7680759	49847804	148174626	5	8218											
SNX9	51429	broad.mit.edu	37	chr6	158342658	158342658	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtaatctcagaaagtgaaGttttccagcagttcctaaat	7	8	1	2			TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr6:158342658G>A	ENST00000392185.3	+	10	1216	c.1045G>A	c.(1045-1047)Gtt>Att	p.V349I		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	349	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|lipid tube assembly (GO:0060988)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein oligomerization (GO:0032461)|receptor-mediated endocytosis (GO:0006898)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	1-phosphatidylinositol binding (GO:0005545)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		AGAAAGTGAAGTTTTCCAGCA	0.428																																						ENST00000392185.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1045-1047)Gtt>Att		sorting nexin 9							85	81	83					6																	158342658		2203	4300	6503	SO:0001583	missense	51429				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding	g.chr6:158342658G>A	AF121859	CCDS5253.1	6q25.1-q26	2008-05-22			ENSG00000130340	ENSG00000130340		"Sorting nexins"	14973	protein-coding gene	gene with protein product		605952				10531379, 17609109	Standard	NM_016224		Approved	SH3PX1, SDP1, SH3PXD3A	uc003qqv.1	Q9Y5X1	OTTHUMG00000015903	ENST00000392185.3:c.1045G>A	6.37:g.158342658G>A	ENSP00000376024:p.Val349Ile						p.V349I	NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)	10	1216	+		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)	349			PX.		Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Missense_Mutation	SNP	ENST00000392185.3	37	c.1045G>A	CCDS5253.1	.	.	.	.	.	.	.	.	.	.	G	8.882	0.951906	0.18431	.	.	ENSG00000130340	ENST00000539592;ENST00000392185;ENST00000252631	T	0.42131	0.98	5.68	0.548	0.17208	Phox homologous domain (5);	0.183339	0.47455	D	0.000233	T	0.21145	0.0509	L	0.38175	1.15	0.58432	D	0.999999	B	0.23937	0.094	B	0.25140	0.058	T	0.23297	-1.0192	10	0.18710	T	0.47	-26.299	20.9179	0.99941	0.0:0.6978:0.3022:0.0	.	349	Q9Y5X1	SNX9_HUMAN	I	349;349;149	ENSP00000376024:V349I	ENSP00000252631:V149I	V	+	1	0	SNX9	158262646	1.000000	0.71417	0.574000	0.28523	0.732000	0.41865	3.692000	0.54727	2.159000	0.67721	0.459000	0.35465	GTT		0.428	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042856.1			24	44	0	0	0	1	0	24	44					A	158342658	G	A	158342658	3	1	399	1	0	0	0	0	1	0	0	0	14909	1029	36	2	1083	2	SNX9	6	158342658	Missense_Mutation	SNP	G	TCGA-ET-A40S-01A-11D-A23M-08		158342658	12772409	6	8219											
SMARCD3	6604	broad.mit.edu	37	chr7	150936733	150936733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtcccggctctgggagcGgagcaggtcttggacatagc	17	10	2	0			TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr7:150936733G>A	ENST00000262188.8	-	11	1683	c.1273C>T	c.(1273-1275)Cgc>Tgc	p.R425C	SMARCD3_ENST00000477169.1_5'Flank|MIR671_ENST00000390183.1_RNA|SMARCD3_ENST00000392811.2_Missense_Mutation_p.R412C|RP4-548D19.3_ENST00000607902.1_RNA|SMARCD3_ENST00000356800.2_Missense_Mutation_p.R412C	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	425					cardiac right ventricle formation (GO:0003219)|cellular lipid metabolic process (GO:0044255)|chromatin remodeling (GO:0006338)|muscle cell differentiation (GO:0042692)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein binding (GO:0043393)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|secondary heart field specification (GO:0003139)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|receptor binding (GO:0005102)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCTGGGAGCGGAGCAGGTCT	0.537																																						ENST00000392811.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15						c.(1234-1236)Cgc>Tgc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3							108	111	110					7																	150936733		2203	4300	6503	SO:0001583	missense	6604				cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding	g.chr7:150936733G>A	U66619	CCDS5924.1, CCDS34780.1	7q35-q36	2008-07-18			ENSG00000082014	ENSG00000082014			11108	protein-coding gene	gene with protein product	"mammalian chromatin remodeling complex BRG1-associated factor 60C", "Swp73-like protein", "SWI/SNF complex 60 kDa subunit C", "60kDa BRG-1/Brm associated factor subunit c"	601737				8804307, 9693044	Standard	NM_001003801		Approved	BAF60C, Rsc6p, CRACD3	uc003wjs.3	Q6STE5	OTTHUMG00000157431	ENST00000262188.8:c.1273C>T	7.37:g.150936733G>A	ENSP00000262188:p.Arg425Cys					SMARCD3_ENST00000356800.2_Missense_Mutation_p.R412C|SMARCD3_ENST00000262188.8_Missense_Mutation_p.R425C	p.R412C	NM_003078.3	NP_003069.2	Q6STE5	SMRD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	12	1708	-			425					D3DX10|Q2YD86|Q75MJ2|Q75MR8|Q92926|Q9BUH1	Missense_Mutation	SNP	ENST00000262188.8	37	c.1234C>T	CCDS34780.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.364043	0.41902	.	.	ENSG00000082014	ENST00000262188;ENST00000392811;ENST00000356800;ENST00000347683	T;T;T	0.44482	0.92;0.92;0.92	5.09	4.21	0.49690	.	0.267477	0.39687	N	0.001296	T	0.26702	0.0653	N	0.14661	0.345	0.49582	D	0.999804	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.05484	-1.0882	10	0.56958	D	0.05	-5.6327	11.3474	0.49569	0.0888:0.0:0.9112:0.0	.	412;425	Q6STE5-2;Q6STE5	.;SMRD3_HUMAN	C	425;412;412;377	ENSP00000262188:R425C;ENSP00000376558:R412C;ENSP00000349254:R412C	ENSP00000262188:R425C	R	-	1	0	SMARCD3	150567666	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.304000	0.43655	1.148000	0.42385	0.655000	0.94253	CGC		0.537	SMARCD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348825.1	NM_001003801		15	112	0	0	0	1	0	15	112					A	150936733	G	A	150936733	3	1	399	1	0	0	0	0	1	0	0	0	14779	1116	39	1	190	1	SMARCD3	7	150936733	Missense_Mutation	SNP	G	TCGA-ET-A40S-01A-11D-A23M-08		150936733	8201930	7	8220											
RASEF	158158	broad.mit.edu	37	chr9	85611935	85611936	+	Frame_Shift_Ins	INS	-	-	A													tgatttcttacctcaatcatINSatctacccattctcgtatgt							TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr9:85611935_85611936insA	ENST00000376447.3	-	14	2171_2172	c.1911_1912insT	c.(1909-1914)gatatgfs	p.M638fs		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	638					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						ACCTCAATCATATCTACCCATT	0.371																																						ENST00000376447.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(1909-1914)gatgatfs		RAS and EF-hand domain containing																																				SO:0001589	frameshift_variant	158158				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	g.chr9:85611935_85611936insA	AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"EF-hand domain containing", "RAB, member RAS oncogene"	26464	protein-coding gene	gene with protein product		611344	"RAB45, member RAS oncogene family"	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.1912dupT	9.37:g.85611936_85611936dupA	ENSP00000365630:p.Met638fs						p.D638fs	NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN			14	2171_2172	-			638					A6NC29|Q96N04	Frame_Shift_Ins	INS	ENST00000376447.3	37	c.1911_1912insT	CCDS6662.1																																																																																				0.371	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573		10	53						10	53	---	---	---	---	A	85611936	-	A	85611935	7	5	399	1	0	1	1	0	0	0	0	0	13068	1406	49	0	326	0	RASEF	9	85611935	Frame_Shift_Ins	INS	-	TCGA-ET-A40S-01A-11D-A23M-08		85611935	55601496	8	8221											
DDIT4	54541	broad.mit.edu	37	chr10	74034179	74034185	+	Splice_Site	DEL	GGTGAGC	GGTGAGC	-													gtggcttcgggccggaggaaGgtgagcggtgggcgggtgcc							TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr10:74034179_74034185delGGTGAGC	ENST00000307365.3	+	2	406	c.205delGGTGAGC	c.(205-207)ggt>gt	p.G69fs	RP11-442H21.2_ENST00000491934.2_RNA	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	69					brain development (GO:0007420)|cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of glycolytic process (GO:0045820)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of TOR signaling (GO:0032007)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron death (GO:1901216)|protein complex disassembly (GO:0043241)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|mitochondrion (GO:0005739)				cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						GCCGGAGGAAGGTGAGCGGTGGGCGGG	0.7																																						ENST00000307365.3																			0				cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.e2+1		DNA-damage-inducible transcript 4																																				SO:0001630	splice_region_variant	54541				apoptosis			g.chr10:74034179_74034185delGGTGAGC	AK000507	CCDS7315.1	10q22.1	2008-05-14			ENSG00000168209	ENSG00000168209			24944	protein-coding gene	gene with protein product	"HIF-1 responsive RTP801"	607729				11884613	Standard	NM_019058		Approved	RTP801, FLJ20500, REDD-1, REDD1, Dig2	uc001jsx.1	Q9NX09	OTTHUMG00000018435	ENST00000307365.3:c.205+1GGTGAGC>-	10.37:g.74034179_74034185delGGTGAGC							p.69_splice	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN			2	406	+			69					Q9H0S3	Splice_Site	DEL	ENST00000307365.3	37	c.205_splice	CCDS7315.1																																																																																				0.7	DDIT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048577.1	NM_019058	Frame_Shift_Del	7	48						7	48	---	---	---	---	-	74034185	GGTGAGC	-	74034179	8	5	399	1	0	1	0	1	0	0	1	0	4331	1014	35	0	207	0	DDIT4	10	74034179	Splice_Site	DEL	GGTGAGC	TCGA-ET-A40S-01A-11D-A23M-08		74034179	61500568	9	8222											
ABTB2	25841	broad.mit.edu	37	chr11	34184192	34184201	+	Frame_Shift_Del	DEL	GGGCCTTGGT	GGGCCTTGGT	-													gtagtacatggcctcctgtaGggccttggtgcgggtccggc							TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr11:34184192_34184201delGGGCCTTGGT	ENST00000435224.2	-	10	2564_2573	c.2140_2149delACCAAGGCCC	c.(2140-2151)accaaggccctafs	p.TKAL714fs	ABTB2_ENST00000298992.2_Frame_Shift_Del_p.TKAL528fs	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	714					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				GCCTCCTGTAGGGCCTTGGTGCGGGTCCGG	0.662																																						ENST00000435224.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(2140-2151)tafs		ankyrin repeat and BTB (POZ) domain containing 2																																				SO:0001589	frameshift_variant	25841						DNA binding	g.chr11:34184192_34184201delGGGCCTTGGT	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.2140_2149delACCAAGGCCC	11.37:g.34184192_34184201delGGGCCTTGGT	ENSP00000410157:p.Thr714fs					ABTB2_ENST00000298992.2_Frame_Shift_Del_p.TKAL528fs	p.TKAL714fs	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN			10	2564_2573	-		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)	528					A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Frame_Shift_Del	DEL	ENST00000435224.2	37	c.2140_2149delACCAAGGCCC	CCDS7890.2																																																																																				0.662	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804		12	52						12	52	---	---	---	---	-	34184201	GGGCCTTGGT	-	34184192	7	5	399	1	0	1	0	1	0	0	0	0	103	991	35	0	960	0	ABTB2	11	34184192	Frame_Shift_Del	DEL	GGGCCTTGGT	TCGA-ET-A40S-01A-11D-A23M-08		34184192	100822324	10	8223											
A2ML1	144568	broad.mit.edu	37	chr12	8990110	8990111	+	Frame_Shift_Del	DEL	GA	GA	-													ggcaaatacttactggtatcGagaggtggaacgggaacagc							TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr12:8990110_8990111delGA	ENST00000299698.7	+	8	983_984	c.803_804delGA	c.(802-804)cgafs	p.R268fs		NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TACTGGTATCGAGAGGTGGAAC	0.495																																						ENST00000299698.7																			0				NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						c.(802-804)cfs		alpha-2-macroglobulin-like 1																																				SO:0001589	frameshift_variant	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:8990110_8990111delGA	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"C3 and PZP-like, alpha-2-macroglobulin domain containing 9"	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.803_804delGA	12.37:g.8990112_8990113delGA	ENSP00000299698:p.Arg268fs						p.R268fs	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN			8	983_984	+			112						Frame_Shift_Del	DEL	ENST00000299698.7	37	c.803_804delGA	CCDS8596.2																																																																																				0.495	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		29	91						29	91	---	---	---	---	-	8990111	GA	-	8990110	7	5	399	1	0	1	0	1	0	0	0	0	5	1058	37	0	833	0	A2ML1	12	8990110	Frame_Shift_Del	DEL	GA	TCGA-ET-A40S-01A-11D-A23M-08		8990110	124861785	11	8224											
PLEKHA5	54477	broad.mit.edu	37	chr12	19408022	19408022	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaaaagaaggaacggccaAtaagtatgataaatgaagct	10	4	0	4			TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr12:19408022A>G	ENST00000299275.6	+	5	361	c.355A>G	c.(355-357)Ata>Gta	p.I119V	PLEKHA5_ENST00000543806.1_Missense_Mutation_p.I11V|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.I119V|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.I119V|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.I119V|PLEKHA5_ENST00000539256.1_5'UTR|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.I11V|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.I119V|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.I119V|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.I119V	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	119					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GGAACGGCCAATAAGTATGAT	0.358																																					Pancreas(196;329 2193 11246 14234 19524)	ENST00000538714.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(355-357)Ata>Gta		pleckstrin homology domain containing, family A member 5							120	112	115					12																	19408022		2203	4300	6503	SO:0001583	missense	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19408022A>G	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"Pleckstrin homology (PH) domain containing"	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.355A>G	12.37:g.19408022A>G	ENSP00000299275:p.Ile119Val					PLEKHA5_ENST00000309364.4_Missense_Mutation_p.I119V|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.I11V|PLEKHA5_ENST00000539256.1_5'UTR|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.I119V|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.I119V|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.I119V|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.I119V|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.I11V|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.I119V	p.I119V	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN			5	359	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		119					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	c.355A>G	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	A	2.445	-0.327616	0.05314	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000309364;ENST00000412219;ENST00000429027;ENST00000299275;ENST00000538714;ENST00000538305;ENST00000424268;ENST00000543806;ENST00000536974	T;T;T;T;T;T;T;T;T;T;T	0.28666	2.75;2.75;2.75;2.75;2.75;2.75;2.75;1.6;3.04;3.04;3.03	4.87	2.47	0.30058	.	0.455403	0.24625	N	0.036935	T	0.10465	0.0256	N	0.08118	0	0.48901	D	0.999728	B;B;B;B;B;B	0.11235	0.004;0.001;0.001;0.002;0.001;0.002	B;B;B;B;B;B	0.11329	0.006;0.003;0.002;0.002;0.003;0.004	T	0.25152	-1.0140	10	0.02654	T	1	-7.9378	3.3669	0.07207	0.5517:0.2052:0.2431:0.0	.	119;11;11;119;119;119	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;Q9HAU0;Q9HAU0-2	.;.;.;.;PKHA5_HUMAN;.	V	119;119;119;119;119;119;119;119;119;11;11;11;11	ENSP00000325155:I119V;ENSP00000347560:I119V;ENSP00000352104:I119V;ENSP00000311239:I119V;ENSP00000404296:I119V;ENSP00000299275:I119V;ENSP00000439673:I119V;ENSP00000446308:I11V;ENSP00000400411:I11V;ENSP00000439837:I11V;ENSP00000440371:I11V	ENSP00000299275:I119V	I	+	1	0	PLEKHA5	19299289	0.098000	0.21812	0.744000	0.31058	0.977000	0.68977	0.552000	0.23376	0.336000	0.23639	0.377000	0.23210	ATA		0.358	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		21	57	0	0	0	1	0	21	57					G	19408022	A	G	19408022	3	3	399	1	0	0	0	0	1	0	0	0	12059	101	4	3	373	3	PLEKHA5	12	19408022	Missense_Mutation	SNP	A	TCGA-ET-A40S-01A-11D-A23M-08	10417912	19408022	114443873	12	8225											
PPL	5493	broad.mit.edu	37	chr16	4934540	4934540	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctccacatcgatgctctcGgcaaaggcgctcgcctcggc	11	16	1	0			TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr16:4934540G>A	ENST00000345988.2	-	22	4205	c.4116C>T	c.(4114-4116)gcC>gcT	p.A1372A	PPL_ENST00000590782.2_Silent_p.A1370A	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1372					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CGATGCTCTCGGCAAAGGCGC	0.677																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(4114-4116)gcC>gcT		periplakin							92	99	97					16																	4934540		2197	4300	6497	SO:0001819	synonymous_variant	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4934540G>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.4116C>T	16.37:g.4934540G>A						PPL_ENST00000590782.2_Silent_p.A1370A	p.A1372A	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			22	4205	-			1372					O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	c.4116C>T	CCDS10526.1																																																																																				0.677	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		29	211	0	0	0	1	0	29	211					A	4934540	G	A	4934540	2	1	399	1	0	0	0	0	0	0	0	1	12334	1103	39	1		1	PPL	16	4934540	Silent	SNP	G	TCGA-ET-A40S-01A-11D-A23M-08		4934540	85420213	13	8226											
MYH13	8735	broad.mit.edu	37	chr17	10265497	10265497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggggcggggcctcctggCgctttttgcctctgtaggca	16	11	1	0	rs202246911		TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr17:10265497C>T	ENST00000418404.3	-	4	606	c.443G>A	c.(442-444)cGc>cAc	p.R148H	MYH13_ENST00000252172.4_Missense_Mutation_p.R148H			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	148	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GGCCTCCTGGCGCTTTTTGCC	0.527																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(442-444)cGc>cAc		myosin, heavy chain 13, skeletal muscle		C	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	82	92	88		443	4.1	1.0	17		88	1,8593	1.2+/-3.3	0,1,4296	no	missense	MYH13	NM_003802.2	29	0,4,6496	TT,TC,CC		0.0116,0.0681,0.0308	probably-damaging	148/1939	10265497	4,12996	2203	4297	6500	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10265497C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.443G>A	17.37:g.10265497C>T	ENSP00000404570:p.Arg148His					MYH13_ENST00000252172.4_Missense_Mutation_p.R148H|MYH13_ENST00000570743.1_Missense_Mutation_p.R148H	p.R148H			Q9UKX3	MYH13_HUMAN			4	606	-			148			Myosin head-like.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.443G>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302836	0.81136	6.81E-4	1.16E-4	ENSG00000006788	ENST00000252172	D	0.88354	-2.37	4.08	4.08	0.47627	Myosin head, motor domain (2);	.	.	.	.	D	0.96228	0.8770	H	0.96430	3.82	0.46061	D	0.998848	D	0.89917	1.0	D	0.77004	0.989	D	0.97787	1.0236	9	0.87932	D	0	.	16.8101	0.85717	0.0:1.0:0.0:0.0	.	148	Q9UKX3	MYH13_HUMAN	H	148	ENSP00000252172:R148H	ENSP00000252172:R148H	R	-	2	0	MYH13	10206222	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	7.492000	0.81482	2.272000	0.75746	0.313000	0.20887	CGC		0.527	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		63	121	0	0	0	1	0	63	121					T	10265497	C	T	10265497	3	4	399	1	0	0	0	0	1	0	0	0	10032	768	27	1	5521	1	MYH13	17	10265497	Missense_Mutation	SNP	C	TCGA-ET-A40S-01A-11D-A23M-08		10265497	70929713	14	8227											
FBXW10	10517	broad.mit.edu	37	chr17	18647965	18647965	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtggaccaaggcgaattaTactctcttactgctgcagat	9	10	1	1	rs145973790	byFrequency	TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr17:18647965T>C	ENST00000395665.4	+	1	629	c.408T>C	c.(406-408)taT>taC	p.Y136Y	FBXW10_ENST00000395667.1_Silent_p.Y136Y|FBXW10_ENST00000308799.4_Silent_p.Y136Y|FBXW10_ENST00000301938.4_Silent_p.Y136Y			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	136										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						AGGCGAATTATACTCTCTTAC	0.443																																						ENST00000308799.4																			0				NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(406-408)taT>taC		F-box and WD repeat domain containing 10		T		1,4405	2.1+/-5.4	0,1,2202	106	106	106		408	-1.6	0.1	17	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FBXW10	NM_031456.3		0,2,6501	CC,CT,TT		0.0116,0.0227,0.0154		136/1052	18647965	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10517							g.chr17:18647965T>C	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"F-boxes / WD-40 domains", "WD repeat domain containing"	1211	protein-coding gene	gene with protein product		611679	"chromosome 17 open reading frame 1A", "F-box and WD-40 domain protein 10"	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.408T>C	17.37:g.18647965T>C						FBXW10_ENST00000395667.1_Silent_p.Y136Y|FBXW10_ENST00000395665.4_Silent_p.Y136Y|FBXW10_ENST00000301938.4_Silent_p.Y136Y	p.Y136Y			Q5XX13	FBW10_HUMAN			1	627	+			136					C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Silent	SNP	ENST00000395665.4	37	c.408T>C	CCDS11199.3																																																																																				0.443	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		7	83	0	0	0	1	0	7	83					C	18647965	T	C	18647965	2	2	399	1	0	0	0	0	0	0	0	1	5763	1413	49	3		3	FBXW10	17	18647965	Silent	SNP	T	TCGA-ET-A40S-01A-11D-A23M-08	8382468	18647965	62547245	15	8228											
MIER2	54531	broad.mit.edu	37	chr19	334487	334487	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcccccctaacactgtagttCtgtgacaggatctctgcgag	9	13	2	1			TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr19:334487C>T	ENST00000264819.4	-	3	166	c.156G>A	c.(154-156)caG>caA	p.Q52Q	MIER2_ENST00000592722.1_5'UTR	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	52					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)		CACTGTAGTTCTGTGACAGGA	0.597																																						ENST00000264819.4																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(154-156)caG>caA		mesoderm induction early response 1, family member 2							131	112	118					19																	334487		2203	4300	6503	SO:0001819	synonymous_variant	54531				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:334487C>T	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.156G>A	19.37:g.334487C>T						MIER2_ENST00000592722.1_5'UTR	p.Q52Q	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)	3	166	-		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)	52					Q9ULM7	Silent	SNP	ENST00000264819.4	37	c.156G>A	CCDS32855.1																																																																																				0.597	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451784.1	XM_041843		21	86	0	0	0	1	0	21	86					T	334487	C	T	334487	2	4	399	1	0	0	0	0	0	0	0	1	9581	912	32	2		2	MIER2	19	334487	Silent	SNP	C	TCGA-ET-A40S-01A-11D-A23M-08		334487	58794496	16	8229											
CD209	30835	broad.mit.edu	37	chr19	7810420	7810420	+	Frame_Shift_Del	DEL	C	C	-													tcacccactgcagccttcagCtgggtcagctcctggtagat					rs199880715		TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr19:7810420delC	ENST00000315599.7	-	4	754	c.732delG	c.(730-732)cagfs	p.Q244fs	CD209_ENST00000601256.1_Frame_Shift_Del_p.Q220fs|CD209_ENST00000593660.1_Intron|CD209_ENST00000602261.1_Intron|CD209_ENST00000315591.8_Frame_Shift_Del_p.Q220fs|CD209_ENST00000301357.8_Frame_Shift_Del_p.Q108fs|CD209_ENST00000394173.4_Intron|CD209_ENST00000394161.5_Intron|CD209_ENST00000593821.1_Intron|CD209_ENST00000204801.8_Frame_Shift_Del_p.Q200fs|CD209_ENST00000354397.6_Frame_Shift_Del_p.Q244fs|CD209_ENST00000601951.1_Frame_Shift_Del_p.Q220fs	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	244	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CAGCCTTCAGCTGGGTCAGCT	0.567																																						ENST00000315599.7																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(730-732)cafs		CD209 molecule							152	156	155					19																	7810420		2203	4300	6503	SO:0001589	frameshift_variant	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7810420delC	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"C-type lectin domain containing", "CD molecules"	1641	protein-coding gene	gene with protein product		604672	"CD209 antigen"			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.732delG	19.37:g.7810420delC	ENSP00000315477:p.Gln244fs					CD209_ENST00000354397.6_Frame_Shift_Del_p.Q244fs|CD209_ENST00000601951.1_Frame_Shift_Del_p.Q220fs|CD209_ENST00000593821.1_Intron|CD209_ENST00000394161.5_Intron|CD209_ENST00000394173.4_Intron|CD209_ENST00000593660.1_Intron|CD209_ENST00000602261.1_Intron|CD209_ENST00000601256.1_Frame_Shift_Del_p.Q220fs|CD209_ENST00000301357.8_Frame_Shift_Del_p.Q108fs|CD209_ENST00000204801.8_Frame_Shift_Del_p.Q200fs|CD209_ENST00000315591.8_Frame_Shift_Del_p.Q220fs	p.Q244fs	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN			4	754	-			244			7 X approximate tandem repeats.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Frame_Shift_Del	DEL	ENST00000315599.7	37	c.732delG	CCDS12186.1																																																																																				0.567	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		10	171						10	171	---	---	---	---	-	7810420	C	-	7810420	7	5	399	1	0	1	0	1	0	0	0	0	2984	796	28	0	498	0	CD209	19	7810420	Frame_Shift_Del	DEL	C	TCGA-ET-A40S-01A-11D-A23M-08	7475933	7810420	51318563	17	8230											
LILRB1	10859	broad.mit.edu	37	chr19	55145098	55145098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttacccaggaccgtctgGgggccccagctccccgacaa	10	17	1	0			TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr19:55145098G>A	ENST00000396331.1	+	9	1628	c.1271G>A	c.(1270-1272)gGg>gAg	p.G424E	LILRB1_ENST00000427581.2_Missense_Mutation_p.G460E|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Missense_Mutation_p.G424E|LILRB1_ENST00000396327.3_Missense_Mutation_p.G424E|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396332.4_Missense_Mutation_p.G424E|LILRB1_ENST00000434867.2_Missense_Mutation_p.G424E|LILRB1_ENST00000396321.2_Missense_Mutation_p.G424E|LILRB1_ENST00000396315.1_Missense_Mutation_p.G424E|LILRB1_ENST00000396317.1_Intron|LILRB1_ENST00000324602.7_Missense_Mutation_p.G424E	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	424					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GGACCGTCTGGGGGCCCCAGC	0.612										HNSCC(37;0.09)																												ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(1270-1272)gGg>gAg		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1							27	32	31					19																	55145098		1913	4118	6031	SO:0001583	missense	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55145098G>A	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1271G>A	19.37:g.55145098G>A	ENSP00000379622:p.Gly424Glu	HNSCC(37;0.09)				LILRB1_ENST00000396327.3_Missense_Mutation_p.G424E|LILRB1_ENST00000396332.4_Missense_Mutation_p.G424E|LILRB1_ENST00000427581.2_Missense_Mutation_p.G460E|LILRB1_ENST00000396315.1_Missense_Mutation_p.G424E|LILRB1_ENST00000396321.2_Missense_Mutation_p.G424E|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Missense_Mutation_p.G424E|LILRB1_ENST00000396317.1_Intron|LILRB1_ENST00000324602.7_Missense_Mutation_p.G424E|LILRB1_ENST00000434867.2_Missense_Mutation_p.G424E	p.G424E	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	9	1628	+			424					A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.1271G>A	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.438043	0.01098	.	.	ENSG00000104972	ENST00000396321;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396315	T;T;T;T;T;T;T;T;T	0.00505	7.07;6.93;7.07;7.05;7.03;7.07;7.07;7.06;7.03	2.02	-0.245	0.13027	.	.	.	.	.	T	0.00328	0.0010	L	0.39245	1.2	0.09310	N	1	B;B;B;B	0.16396	0.007;0.017;0.016;0.011	B;B;B;B	0.23852	0.02;0.027;0.049;0.016	T	0.45131	-0.9282	9	0.02654	T	1	.	4.1604	0.10280	0.3938:0.0:0.6062:0.0	.	424;424;424;424	Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;LIRB1_HUMAN	E	424;424;424;424;424;424;424;460;424	ENSP00000379614:G424E;ENSP00000409968:G424E;ENSP00000379622:G424E;ENSP00000379618:G424E;ENSP00000315997:G424E;ENSP00000405243:G424E;ENSP00000379623:G424E;ENSP00000395004:G460E;ENSP00000379608:G424E	ENSP00000315997:G424E	G	+	2	0	LILRB1	59836910	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.050000	0.14120	0.013000	0.14918	0.195000	0.17529	GGG		0.612	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			13	8	0	0	0	1	0	13	8					A	55145098	G	A	55145098	3	1	399	1	0	0	0	0	1	0	0	0	8790	1232	43	2	1297	2	LILRB1	19	55145098	Missense_Mutation	SNP	G	TCGA-ET-A40S-01A-11D-A23M-08	47334678	55145098	3983885	18	8231											
REG1B	5968	broad.mit.edu	37	chr2	79312700	79312700	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggacttgtaggagaccagGgacccactactccagtgcca	11	13	0	1			TCGA-ET-A40T-01A-11D-A23M-08	TCGA-ET-A40T-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcaa7922-868c-471a-b78c-f22fba89fbbc	2ca23f5a-c310-4dc8-9416-444b90fcbf71	g.chr2:79312700G>A	ENST00000305089.3	-	5	431	c.351C>T	c.(349-351)tcC>tcT	p.S117S		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	117	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell proliferation (GO:0008283)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						AGGAGACCAGGGACCCACTAC	0.547																																						ENST00000305089.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						c.(349-351)tcC>tcT		regenerating islet-derived 1 beta							88	81	83					2																	79312700		2203	4300	6503	SO:0001819	synonymous_variant	5968				cell proliferation	extracellular region	sugar binding	g.chr2:79312700G>A		CCDS1963.1	2p12	2008-06-04	2008-06-04		ENSG00000172023	ENSG00000172023			9952	protein-coding gene	gene with protein product	"lithostathine 1 beta", "secretory pancreatic stone protein 2"	167771	"regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)"			8110835	Standard	NM_006507		Approved	REGL, PSPS2, REGH, REGI-BETA	uc002sny.2	P48304	OTTHUMG00000130019	ENST00000305089.3:c.351C>T	2.37:g.79312700G>A							p.S117S	NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN			5	431	-			117			C-type lectin.			Silent	SNP	ENST00000305089.3	37	c.351C>T	CCDS1963.1																																																																																				0.547	REG1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252292.2	NM_006507		14	150	0	0	0	1	0	14	150					A	79312700	G	A	79312700	2	1	400	1	0	0	0	0	0	0	0	1	13211	1219	43	2		2	REG1B	2	79312700	Silent	SNP	G	TCGA-ET-A40T-01A-11D-A23M-08		79312700	163886673	1	8232											
SH3RF3	344558	broad.mit.edu	37	chr2	110065657	110065657	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcccaggctcaggaccgGccaactgccaccgtgtcacc	11	18	2	0			TCGA-ET-A40T-01A-11D-A23M-08	TCGA-ET-A40T-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcaa7922-868c-471a-b78c-f22fba89fbbc	2ca23f5a-c310-4dc8-9416-444b90fcbf71	g.chr2:110065657G>A	ENST00000309415.6	+	8	1860	c.1860G>A	c.(1858-1860)cgG>cgA	p.R620R		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	620							zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						CTCAGGACCGGCCAACTGCCA	0.657																																						ENST00000309415.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						c.(1858-1860)cgG>cgA		SH3 domain containing ring finger 3							19	26	24					2																	110065657		2165	4259	6424	SO:0001819	synonymous_variant	344558						zinc ion binding	g.chr2:110065657G>A	AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"RING-type (C3HC4) zinc fingers"	24699	protein-coding gene	gene with protein product			"SH3 multiple domains 4"	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.1860G>A	2.37:g.110065657G>A							p.R620R	NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN			8	1860	+			620					A0SDZ7|A8MPR1|Q8NDU1	Silent	SNP	ENST00000309415.6	37	c.1860G>A																																																																																					0.657	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289		4	56	0	0	0	1	0	4	56					A	110065657	G	A	110065657	2	1	400	1	0	0	0	0	0	0	0	1	14260	1190	42	2		2	SH3RF3	2	110065657	Silent	SNP	G	TCGA-ET-A40T-01A-11D-A23M-08	30752957	110065657	133133716	2	8233											
CDH10	1008	broad.mit.edu	37	chr5	24511559	24511560	+	Frame_Shift_Ins	INS	-	-	GCTTTGA													tcccagtgtcagcatcagttINSgctttgacacttccaatggc							TCGA-ET-A40T-01A-11D-A23M-08	TCGA-ET-A40T-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcaa7922-868c-471a-b78c-f22fba89fbbc	2ca23f5a-c310-4dc8-9416-444b90fcbf71	g.chr5:24511559_24511560insGCTTTGA	ENST00000264463.4	-	6	1385_1386	c.878_879insTCAAAGC	c.(877-879)gcafs	p.-293fs		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)						adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CAGCATCAGTTGCTTTGACACT	0.426										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(877-879)gacfs		cadherin 10, type 2 (T2-cadherin)																																				SO:0001589	frameshift_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24511559_24511560insGCTTTGA	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.872_878dupTCAAAGC	5.37:g.24511560_24511566dupGCTTTGA	ENSP00000264463:p.Ala293fs	HNSCC(23;0.051)					p.D293fs	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	6	1385_1386	-			293			Cadherin 3.		Q9ULB3	Frame_Shift_Ins	INS	ENST00000264463.4	37	c.878_879insTCAAAGC	CCDS3892.1																																																																																				0.426	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		7	308						7	308	---	---	---	---	GCTTTGA	24511560	-	GCTTTGA	24511559	7	5	400	1	0	1	1	0	0	0	0	0	3096	1799	63	0	1515	0	CDH10	5	24511559	Frame_Shift_Ins	INS	-	TCGA-ET-A40T-01A-11D-A23M-08		24511559	156403701	3	8234											
HIST1H4G	8369	broad.mit.edu	37	chr6	26246947	26246947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtttgagcacgtagaccaCggccatggcggtgaccgtct	14	12	1	3			TCGA-ET-A40T-01A-11D-A23M-08	TCGA-ET-A40T-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcaa7922-868c-471a-b78c-f22fba89fbbc	2ca23f5a-c310-4dc8-9416-444b90fcbf71	g.chr6:26246947C>T	ENST00000244537.4	-	1	312	c.259G>A	c.(259-261)Gtg>Atg	p.V87M		NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN	histone cluster 1, H4g	87						nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				ACGTAGACCACGGCCATGGCG	0.572																																						ENST00000244537.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(259-261)Gtg>Atg		histone cluster 1, H4g							66	54	58					6																	26246947		2203	4300	6503	SO:0001583	missense	8369				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26246947C>T	Z80788	CCDS4599.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124578	ENSG00000275663		"Histones / Replication-dependent"	4792	protein-coding gene	gene with protein product		602832	"H4 histone family, member L", "histone 1, H4g"	H4FL		9119399, 12408966	Standard	NM_003547		Approved	H4/l	uc003nhf.3	Q99525	OTTHUMG00000014444	ENST00000244537.4:c.259G>A	6.37:g.26246947C>T	ENSP00000244537:p.Val87Met						p.V87M	NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN			1	312	-		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)	87						Missense_Mutation	SNP	ENST00000244537.4	37	c.259G>A	CCDS4599.1	.	.	.	.	.	.	.	.	.	.	.	9.833	1.188999	0.21954	.	.	ENSG00000124578	ENST00000244537	T	0.70516	-0.49	3.05	2.17	0.27698	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.50394	0.1613	.	.	.	0.33145	D	0.544878	P	0.46656	0.882	B	0.42625	0.393	T	0.48885	-0.8995	8	0.66056	D	0.02	.	9.8458	0.41026	0.0:0.8913:0.0:0.1087	.	87	Q99525	H4G_HUMAN	M	87	ENSP00000244537:V87M	ENSP00000244537:V87M	V	-	1	0	HIST1H4G	26354926	1.000000	0.71417	0.998000	0.56505	0.027000	0.11550	6.913000	0.75759	0.596000	0.29794	-0.539000	0.04255	GTG		0.572	HIST1H4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040107.1	NM_003547		49	113	0	0	0	1	0	49	113					T	26246947	C	T	26246947	3	4	400	1	0	0	0	0	1	0	0	0	7171	536	19	1	41	1	HIST1H4G	6	26246947	Missense_Mutation	SNP	C	TCGA-ET-A40T-01A-11D-A23M-08		26246947	144868120	4	8235											
XRCC2	7516	broad.mit.edu	37	chr7	152346220	152346220	+	Frame_Shift_Del	DEL	A	A	-													tgctactactgcagtacaccAaaaaaaatcttcccaggcag							TCGA-ET-A40T-01A-11D-A23M-08	TCGA-ET-A40T-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcaa7922-868c-471a-b78c-f22fba89fbbc	2ca23f5a-c310-4dc8-9416-444b90fcbf71	g.chr7:152346220delA	ENST00000359321.1	-	3	435	c.350delT	c.(349-351)ttgfs	p.L117fs	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	117					centrosome organization (GO:0051297)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of neurogenesis (GO:0050769)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|strand invasion (GO:0042148)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)	p.V118fs*5(1)		NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		GCAGTACACCAAAAAAAATCT	0.393								Homologous recombination																														ENST00000359321.1																			1	Insertion - Frameshift(1)	p.V118fs*5(1)	NS(1)	NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11						c.(349-351)tgfs	Homologous recombination	X-ray repair complementing defective repair in Chinese hamster cells 2							79	80	80					7																	152346220		2203	4300	6503	SO:0001589	frameshift_variant	7516				meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr7:152346220delA	Y08837	CCDS5933.1	7q36	2006-05-04			ENSG00000196584	ENSG00000196584			12829	protein-coding gene	gene with protein product	"RAD51-like"	600375				7607692, 10422536	Standard	NM_005431		Approved		uc003wld.3	O43543	OTTHUMG00000151470	ENST00000359321.1:c.350delT	7.37:g.152346220delA	ENSP00000352271:p.Leu117fs					XRCC2_ENST00000495707.1_5'UTR	p.L117fs	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)	3	435	-		all_hematologic(28;0.0592)|Prostate(32;0.081)	117					B2R925	Frame_Shift_Del	DEL	ENST00000359321.1	37	c.350delT	CCDS5933.1																																																																																				0.393	XRCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322783.1	NM_005431		7	301						7	301	---	---	---	---	-	152346220	A	-	152346220	7	5	400	1	0	1	0	1	0	0	0	0	17450	131	5	0	496	0	XRCC2	7	152346220	Frame_Shift_Del	DEL	A	TCGA-ET-A40T-01A-11D-A23M-08		152346220	6792443	5	8236											
HRCT1	646962	broad.mit.edu	37	chr9	35906583	35906584	+	In_Frame_Ins	INS	-	-	CCACCA													cgccacacccctcaccacctINSccaccaccaccaccaccccc					rs112821450|rs143611048|rs79156963	byFrequency	TCGA-ET-A40T-01A-11D-A23M-08	TCGA-ET-A40T-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcaa7922-868c-471a-b78c-f22fba89fbbc	2ca23f5a-c310-4dc8-9416-444b90fcbf71	g.chr9:35906583_35906584insCCACCA	ENST00000354323.2	+	1	395_396	c.299_300insCCACCA	c.(298-303)ctccac>ctCCACCAccac	p.105_106insHH	LINC00961_ENST00000443779.1_lincRNA	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	105	His-rich.					integral component of membrane (GO:0016021)		p.L100H(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						cctcaccacctccaccaccacc	0.668																																						ENST00000354323.2																			1	Substitution - Missense(1)	p.L100H(1)	NS(1)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						c.(298-300)cca>cCCACCAca		histidine rich carboxyl terminus 1																																				SO:0001652	inframe_insertion	646962					integral to membrane		g.chr9:35906583_35906584insCCACCA		CCDS35012.1	9p13.3	2008-09-30			ENSG00000196196	ENSG00000196196			33872	protein-coding gene	gene with protein product						12975309	Standard	NM_001039792		Approved	LGLL338, PRO537, UNQ338	uc003zyr.1	Q6UXD1	OTTHUMG00000154146	ENST00000354323.2:c.306_311dupCCACCA	9.37:g.35906584_35906589dupCCACCA	ENSP00000346283:p.His104_His105dup						p.100_101insTT	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN			1	395_396	+			100			His-rich.		B7ZBJ1	In_Frame_Ins	INS	ENST00000354323.2	37	c.299_300insCCACCA	CCDS35012.1																																																																																				0.668	HRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334099.1	NM_001039792		10	44						10	44	---	---	---	---	CCACCA	35906584	-	CCACCA	35906583	7	5	400	1	0	1	1	0	0	0	0	0	7353	1551	54	0	301	0	HRCT1	9	35906583	In_Frame_Ins	INS	-	TCGA-ET-A40T-01A-11D-A23M-08		35906583	105306848	6	8237											
PAX5	5079	broad.mit.edu	37	chr9	36923383	36923383	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggtaggactgcgggcctggCacactgctcccgatgtcagc	15	13	1	0			TCGA-ET-A40T-01A-11D-A23M-08	TCGA-ET-A40T-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcaa7922-868c-471a-b78c-f22fba89fbbc	2ca23f5a-c310-4dc8-9416-444b90fcbf71	g.chr9:36923383C>A	ENST00000358127.4	-	7	953	c.879G>T	c.(877-879)gtG>gtT	p.V293V	PAX5_ENST00000523145.1_Silent_p.V185V|PAX5_ENST00000446742.1_Silent_p.V227V|PAX5_ENST00000520281.1_Silent_p.V250V|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000377847.2_Silent_p.V293V|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000377852.2_Silent_p.V293V|PAX5_ENST00000377853.2_Silent_p.V293V|PAX5_ENST00000414447.1_Silent_p.V250V|PAX5_ENST00000522003.1_Silent_p.V185V	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	293					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.?(23)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GCGGGCCTGGCACACTGCTCC	0.617			"T, Mis, D, F, S"	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"	"NHL, ALL, B-ALL"																																	ENST00000358127.4				Dom	yes		9	9p13	5079	"T, Mis, D, F, S"	paired box gene 5 (B-cell lineage specific activator protein)			L	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"		"NHL, ALL, B-ALL"	PAX5/JAK2(18)	23	Unknown(23)	p.?(23)	haematopoietic_and_lymphoid_tissue(23)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171						c.(877-879)gtG>gtT		paired box 5							56	60	59					9																	36923383		2203	4300	6503	SO:0001819	synonymous_variant	5079				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr9:36923383C>A		CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"Paired boxes", "Homeoboxes / PRD class"	8619	protein-coding gene	gene with protein product	"B-cell lineage specific activator"	167414	"paired box gene 5 (B-cell lineage specific activator protein)", "paired box gene 5 (B-cell lineage specific activator)"			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.879G>T	9.37:g.36923383C>A						PAX5_ENST00000414447.1_Silent_p.V250V|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000522003.1_Silent_p.V185V|PAX5_ENST00000377853.2_Silent_p.V293V|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000520281.1_Silent_p.V250V|PAX5_ENST00000377847.2_Silent_p.V293V|PAX5_ENST00000446742.1_Silent_p.V227V|PAX5_ENST00000377852.2_Silent_p.V293V|PAX5_ENST00000523145.1_Silent_p.V185V	p.V293V	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN		GBM - Glioblastoma multiforme(29;0.0108)	7	953	-		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)	293					A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Silent	SNP	ENST00000358127.4	37	c.879G>T	CCDS6607.1																																																																																				0.617	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1			16	237	1	0	1.67942e-08	1	1.76781e-08	16	237					A	36923383	C	A	36923383	2	1	400	1	0	0	0	0	0	0	0	1	11482	697	25	4		4	PAX5	9	36923383	Silent	SNP	C	TCGA-ET-A40T-01A-11D-A23M-08	1016800	36923383	104290048	7	8238											
TDRD7	23424	broad.mit.edu	37	chr9	100227132	100227132	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taactgattcaggtatgtggGcaaagactattctgctgctc	10	8	2	2			TCGA-ET-A40T-01A-11D-A23M-08	TCGA-ET-A40T-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcaa7922-868c-471a-b78c-f22fba89fbbc	2ca23f5a-c310-4dc8-9416-444b90fcbf71	g.chr9:100227132G>A	ENST00000355295.4	+	8	1746	c.1451G>A	c.(1450-1452)gGc>gAc	p.G484D	TDRD7_ENST00000422139.2_Missense_Mutation_p.G410D	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	484					germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				AGGTATGTGGGCAAAGACTAT	0.388																																						ENST00000355295.4																			0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1450-1452)gGc>gAc		tudor domain containing 7							111	107	108					9																	100227132		2203	4300	6503	SO:0001583	missense	23424				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding	g.chr9:100227132G>A	AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"Tudor domain containing"	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.1451G>A	9.37:g.100227132G>A	ENSP00000347444:p.Gly484Asp					TDRD7_ENST00000422139.2_Missense_Mutation_p.G410D	p.G484D	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN			8	1746	+		Acute lymphoblastic leukemia(62;0.158)	484					A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Missense_Mutation	SNP	ENST00000355295.4	37	c.1451G>A	CCDS6725.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401983	0.83120	.	.	ENSG00000196116	ENST00000355295;ENST00000422139	T;T	0.08720	3.06;3.06	5.32	5.32	0.75619	Maternal tudor protein (1);	0.000000	0.85682	D	0.000000	T	0.30854	0.0778	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00844	-1.1543	10	0.56958	D	0.05	-19.9566	17.9586	0.89078	0.0:0.0:1.0:0.0	.	484	Q8NHU6	TDRD7_HUMAN	D	484;410	ENSP00000347444:G484D;ENSP00000413608:G410D	ENSP00000347444:G484D	G	+	2	0	TDRD7	99266953	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.130000	0.89598	2.681000	0.91329	0.563000	0.77884	GGC		0.388	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290		66	168	0	0	0	1	0	66	168					A	100227132	G	A	100227132	3	1	400	1	0	0	0	0	1	0	0	0	15732	1203	42	2	1477	2	TDRD7	9	100227132	Missense_Mutation	SNP	G	TCGA-ET-A40T-01A-11D-A23M-08	63303749	100227132	40986299	8	8239											
GLUD1	2746	broad.mit.edu	37	chr10	88854287	88854287	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccaccagcttgtcctccacGatgctggcgccgcgatcgaa	10	16	0	0			TCGA-ET-A40T-01A-11D-A23M-08	TCGA-ET-A40T-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcaa7922-868c-471a-b78c-f22fba89fbbc	2ca23f5a-c310-4dc8-9416-444b90fcbf71	g.chr10:88854287G>A	ENST00000277865.4	-	1	336	c.240C>T	c.(238-240)atC>atT	p.I80I	FAM35A_ENST00000298786.4_5'Flank|GLUD1_ENST00000544149.1_5'Flank|GLUD1_ENST00000537649.1_5'Flank|FAM35A_ENST00000298784.1_5'Flank	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	80					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamine metabolic process (GO:0006541)|positive regulation of insulin secretion (GO:0032024)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|tricarboxylic acid metabolic process (GO:0072350)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|leucine binding (GO:0070728)|NAD+ binding (GO:0070403)	p.I80I(1)		endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					Hexachlorophene(DB00756)	TGTCCTCCACGATGCTGGCGC	0.672																																						ENST00000277865.4																			1	Substitution - coding silent(1)	p.I80I(1)	endometrium(1)	endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22						c.(238-240)atC>atT		glutamate dehydrogenase 1	L-Glutamic Acid(DB00142)|NADH(DB00157)						98	94	96					10																	88854287		2203	4300	6503	SO:0001819	synonymous_variant	2746				glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding	g.chr10:88854287G>A	M20867	CCDS7382.1	10q23.2	2010-03-17			ENSG00000148672	ENSG00000148672	1.4.1.3		4335	protein-coding gene	gene with protein product		138130		GLUD		2757358	Standard	NM_005271		Approved	GDH	uc001keh.3	P00367	OTTHUMG00000018666	ENST00000277865.4:c.240C>T	10.37:g.88854287G>A							p.I80I	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN			1	336	-			80					B3KV55|B4DGN5|Q5TBU3	Silent	SNP	ENST00000277865.4	37	c.240C>T	CCDS7382.1	.	.	.	.	.	.	.	.	.	.	G	8.817	0.936536	0.18206	.	.	ENSG00000148672	ENST00000394415	.	.	.	4.01	-0.00201	0.14031	.	.	.	.	.	T	0.52533	0.1740	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42498	-0.9448	5	0.38643	T	0.18	.	4.8829	0.13688	0.342:0.1461:0.5119:0.0	.	.	.	.	C	54	.	ENSP00000377937:R54C	R	-	1	0	GLUD1	88844267	1.000000	0.71417	0.990000	0.47175	0.368000	0.29767	1.511000	0.35801	-0.192000	0.10432	-1.797000	0.00622	CGT		0.672	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049188.1	NM_005271		113	249	0	0	0	1	0	113	249					A	88854287	G	A	88854287	2	1	400	1	0	0	0	0	0	0	0	1	6476	1048	37	1		1	GLUD1	10	88854287	Silent	SNP	G	TCGA-ET-A40T-01A-11D-A23M-08		88854287	46680460	9	8240											
C10orf46	143384	broad.mit.edu	37	chr10	120450854	120450854	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagaaagttcagattccacCgccggagggagaatgtttgg	13	8	2	3	rs371135666		TCGA-ET-A40T-01A-11D-A23M-08	TCGA-ET-A40T-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcaa7922-868c-471a-b78c-f22fba89fbbc	2ca23f5a-c310-4dc8-9416-444b90fcbf71	g.chr10:120450854C>T	ENST00000369151.3	-	7	1431	c.948G>A	c.(946-948)gcG>gcA	p.A316A	CACUL1_ENST00000544392.1_5'UTR	NM_153810.4	NP_722517.3	Q86Y37	CACL1_HUMAN	CDK2-associated, cullin domain 1	316					G1/S transition of mitotic cell cycle (GO:0000082)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase activity (GO:0045860)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)	protein kinase binding (GO:0019901)										CAGATTCCACCGCCGGAGGGA	0.353																																						ENST00000369151.3																			0											c.(946-948)gcG>gcA		CDK2-associated, cullin domain 1		C		4,3608		0,4,1802	141	146	144		948	-9.6	0.4	10		144	0,8146		0,0,4073	no	coding-synonymous	C10orf46	NM_153810.4		0,4,5875	TT,TC,CC		0.0,0.1107,0.034		316/370	120450854	4,11754	1806	4073	5879	SO:0001819	synonymous_variant	143384							g.chr10:120450854C>T	AK097728	CCDS41570.1	10q26.13	2012-06-12	2012-06-12	2012-06-12	ENSG00000151893	ENSG00000151893			23727	protein-coding gene	gene with protein product	"Cdk-Associated Cullin1"		"chromosome 10 open reading frame 46"	C10orf46		19829063	Standard	NM_153810		Approved	FLJ40409, MGC33215, CAC1	uc001lds.1	Q86Y37	OTTHUMG00000019138	ENST00000369151.3:c.948G>A	10.37:g.120450854C>T						CACUL1_ENST00000544392.1_5'UTR	p.A316A	NM_153810.4	NP_722517.3					7	1431	-								Q5XPL7|Q8IY11|Q8N7S4	Silent	SNP	ENST00000369151.3	37	c.948G>A	CCDS41570.1																																																																																				0.353	CACUL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050612.2	NM_153810		20	536	0	0	0	1	0	20	536					T	120450854	C	T	120450854	2	4	400	1	0	0	0	0	0	0	0	1	1604	639	23	1		1	C10orf46	10	120450854	Silent	SNP	C	TCGA-ET-A40T-01A-11D-A23M-08	31596567	120450854	15083893	10	8241											
KRTAP5-1	387264	broad.mit.edu	37	chr11	1605959	1605959	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaggagccacagccccccTtggagcccccacaagaacca	8	19	0	1			TCGA-ET-A40T-01A-11D-A23M-08	TCGA-ET-A40T-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcaa7922-868c-471a-b78c-f22fba89fbbc	2ca23f5a-c310-4dc8-9416-444b90fcbf71	g.chr11:1605959T>G	ENST00000382171.2	-	1	554	c.521A>C	c.(520-522)aAg>aCg	p.K174T	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	174	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)		ACAGCCCCCCTTGGAGCCCCC	0.677																																						ENST00000382171.2																			0				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16						c.(520-522)aAg>aCg		keratin associated protein 5-1							45	61	56					11																	1605959		2202	4299	6501	SO:0001583	missense	387264					keratin filament		g.chr11:1605959T>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.521A>C	11.37:g.1605959T>G	ENSP00000371606:p.Lys174Thr					KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	p.K174T	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	554	-		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)	174			8 X 4 AA repeats of C-C-X-P.			Missense_Mutation	SNP	ENST00000382171.2	37	c.521A>C	CCDS31330.1	.	.	.	.	.	.	.	.	.	.	-	1.809	-0.475072	0.04414	.	.	ENSG00000205869	ENST00000382171	T	0.05786	3.39	2.91	2.91	0.33838	.	.	.	.	.	T	0.09992	0.0245	M	0.62266	1.93	0.24969	N	0.991677	P	0.52316	0.952	P	0.50537	0.643	T	0.16247	-1.0409	9	0.15952	T	0.53	.	4.8009	0.13296	0.0:0.1545:0.0:0.8455	.	174	Q6L8H4	KRA51_HUMAN	T	174	ENSP00000371606:K174T	ENSP00000371606:K174T	K	-	2	0	KRTAP5-1	1562535	0.000000	0.05858	0.999000	0.59377	0.308000	0.27856	-0.413000	0.07123	0.978000	0.38470	0.225000	0.17782	AAG		0.677	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		22	418	0	0	0	1	0	22	418					G	1605959	T	G	1605959	3	3	400	1	0	0	0	0	1	0	0	0	8558	1609	56	5	319	5	KRTAP5-1	11	1605959	Missense_Mutation	SNP	T	TCGA-ET-A40T-01A-11D-A23M-08		1605959	133400557	11	8242											
AMPD3	272	broad.mit.edu	37	chr11	10524303	10524303	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tatctctactaccttgctcaGatccccattgccatgtctcc	4	16	3	1			TCGA-ET-A40T-01A-11D-A23M-08	TCGA-ET-A40T-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcaa7922-868c-471a-b78c-f22fba89fbbc	2ca23f5a-c310-4dc8-9416-444b90fcbf71	g.chr11:10524303G>A	ENST00000396554.3	+	13	2246	c.1905G>A	c.(1903-1905)caG>caA	p.Q635Q	AMPD3_ENST00000444303.2_Silent_p.Q467Q|AMPD3_ENST00000530864.1_3'UTR	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	626					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		ACCTTGCTCAGATCCCCATTG	0.483																																						ENST00000444303.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25						c.(1399-1401)caG>caA		adenosine monophosphate deaminase 3							264	249	254					11																	10524303		2201	4294	6495	SO:0001819	synonymous_variant	272				AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr11:10524303G>A	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"erythrocyte-specific AMP deaminase"	102772	"adenosine monophosphate deaminase (isoform E)"			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.1905G>A	11.37:g.10524303G>A						AMPD3_ENST00000530864.1_3'UTR|AMPD3_ENST00000396554.3_Silent_p.Q635Q	p.Q467Q	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN		all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)	12	1873	+			626					A0AUX0|B7Z2S2|B7Z763|B7Z877	Silent	SNP	ENST00000396554.3	37	c.1401G>A	CCDS7802.1																																																																																				0.483	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480		23	573	0	0	0	1	0	23	573					A	10524303	G	A	10524303	2	1	400	1	0	0	0	0	0	0	0	1	587	933	33	2		2	AMPD3	11	10524303	Silent	SNP	G	TCGA-ET-A40T-01A-11D-A23M-08	8918344	10524303	124482213	12	8243											
ANO3	63982	broad.mit.edu	37	chr11	26529693	26529693	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccagtggacctctgttcaaaGatggcaaaaagagaattgat	10	7	2	3			TCGA-ET-A40T-01A-11D-A23M-08	TCGA-ET-A40T-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcaa7922-868c-471a-b78c-f22fba89fbbc	2ca23f5a-c310-4dc8-9416-444b90fcbf71	g.chr11:26529693G>C	ENST00000256737.3	+	5	1327	c.475G>C	c.(475-477)Gat>Cat	p.D159H	ANO3_ENST00000531568.1_Missense_Mutation_p.D13H|ANO3_ENST00000531646.1_Missense_Mutation_p.D159H|ANO3_ENST00000525139.1_Missense_Mutation_p.D143H|ANO3_ENST00000537978.1_Missense_Mutation_p.D143H	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	159					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TCTGTTCAAAGATGGCAAAAA	0.333																																						ENST00000256737.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(475-477)Gat>Cat		anoctamin 3							81	76	77					11																	26529693		2203	4300	6503	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26529693G>C	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	14004	protein-coding gene	gene with protein product	"transmembrane protein 16C (eight membrane-spanning domains)"	610110	"chromosome 11 open reading frame 25", "transmembrane protein 16C"	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.475G>C	11.37:g.26529693G>C	ENSP00000256737:p.Asp159His					ANO3_ENST00000537978.1_Missense_Mutation_p.D143H|ANO3_ENST00000525139.1_Missense_Mutation_p.D143H|ANO3_ENST00000531568.1_Missense_Mutation_p.D13H|ANO3_ENST00000531646.1_Missense_Mutation_p.D159H	p.D159H	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN			5	1327	+			159					B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.475G>C	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568421	0.86439	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000531646;ENST00000538001;ENST00000531568	T;T;T;T;T	0.78364	-0.07;-0.07;-0.07;-0.07;-1.17	5.58	5.58	0.84498	.	0.051340	0.85682	D	0.000000	D	0.89181	0.6642	M	0.85630	2.765	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.67900	0.954;0.954	D	0.90285	0.4318	10	0.87932	D	0	.	18.6915	0.91585	0.0:0.0:1.0:0.0	.	76;159	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	H	143;143;159;159;76;13	ENSP00000440737:D143H;ENSP00000432576:D143H;ENSP00000256737:D159H;ENSP00000435275:D159H;ENSP00000432394:D13H	ENSP00000256737:D159H	D	+	1	0	ANO3	26486269	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.951000	0.93025	2.782000	0.95742	0.585000	0.79938	GAT		0.333	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		8	156	0	0	0	1	0	8	156					C	26529693	G	C	26529693	3	2	400	1	0	0	0	0	1	0	0	0	698	942	33	4	493	4	ANO3	11	26529693	Missense_Mutation	SNP	G	TCGA-ET-A40T-01A-11D-A23M-08	16005390	26529693	108476823	13	8244											
ZNHIT2	741	broad.mit.edu	37	chr11	64884900	64884900	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccaggctcgtcctcggtctCgcgttgctgacgcagccggc	13	17	1	1			TCGA-ET-A40T-01A-11D-A23M-08	TCGA-ET-A40T-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcaa7922-868c-471a-b78c-f22fba89fbbc	2ca23f5a-c310-4dc8-9416-444b90fcbf71	g.chr11:64884900C>T	ENST00000310597.4	-	1	270	c.226G>A	c.(226-228)Gag>Aag	p.E76K	AP003068.12_ENST00000527789.1_RNA	NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT-type containing 2	76							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						TCCTCGGTCTCGCGTTGCTGA	0.701																																						ENST00000310597.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						c.(226-228)Gag>Aag		zinc finger, HIT-type containing 2							6	6	6					11																	64884900		2111	4181	6292	SO:0001583	missense	741						metal ion binding	g.chr11:64884900C>T		CCDS8094.1	11q13	2012-08-08	2010-09-15	2004-07-14	ENSG00000174276	ENSG00000174276		"Zinc fingers, HIT-type"	1177	protein-coding gene	gene with protein product		604575	"chromosome 11 open reading frame 5", "zinc finger, HIT domain containing 2"	C11orf5			Standard	NM_014205		Approved	FON	uc001ocw.3	Q9UHR6	OTTHUMG00000165604	ENST00000310597.4:c.226G>A	11.37:g.64884900C>T	ENSP00000308548:p.Glu76Lys					AP003068.12_ENST00000527789.1_RNA	p.E76K	NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN			1	270	-			76					Q3SY14|Q8IUV0	Missense_Mutation	SNP	ENST00000310597.4	37	c.226G>A	CCDS8094.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723415	0.68959	.	.	ENSG00000174276	ENST00000310597	T	0.36157	1.27	4.74	4.74	0.60224	.	0.392314	0.25321	U	0.031506	T	0.27134	0.0665	M	0.66939	2.045	0.31519	N	0.662654	P	0.44478	0.836	B	0.28709	0.093	T	0.38178	-0.9673	10	0.08837	T	0.75	-7.8269	13.097	0.59197	0.0:1.0:0.0:0.0	.	76	Q9UHR6	ZNHI2_HUMAN	K	76	ENSP00000308548:E76K	ENSP00000308548:E76K	E	-	1	0	ZNHIT2	64641476	0.996000	0.38824	1.000000	0.80357	0.968000	0.65278	2.857000	0.48349	2.460000	0.83146	0.655000	0.94253	GAG		0.701	ZNHIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385260.1	NM_014205		3	14	0	0	0	1	0	3	14					T	64884900	C	T	64884900	3	4	400	1	0	0	0	0	1	0	0	0	18204	893	31	1	989	1	ZNHIT2	11	64884900	Missense_Mutation	SNP	C	TCGA-ET-A40T-01A-11D-A23M-08	38355207	64884900	70121616	14	8245											
SLC22A20	823	broad.mit.edu	37	chr11	64981812	64981812	+	IGR	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgcagtgggatctggtgtgtGaggcccgcactctccgagac	15	11	2	2			TCGA-ET-A40T-01A-11D-A23M-08	TCGA-ET-A40T-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcaa7922-868c-471a-b78c-f22fba89fbbc	2ca23f5a-c310-4dc8-9416-444b90fcbf71	g.chr11:64981812G>A	ENST00000527323.1	+	0	3086				SLC22A20_ENST00000525437.1_RNA			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit						extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		TCTGGTGTGTGAGGCCCGCAC	0.667																																						ENST00000525437.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8															35	39	38					11																	64981812		2065	4200	6265	SO:0001628	intergenic_variant	0				ion transport	integral to membrane	transmembrane transporter activity	g.chr11:64981812G>A	X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"EF-hand domain containing"	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614		11.37:g.64981812G>A										A6NK97	S22AK_HUMAN			0	430	+								Q2TTR0|Q6DHV4	RNA	SNP	ENST00000527323.1	37		CCDS44644.1																																																																																				0.667	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385325.1			23	53	0	0	0	1	0	23	53					A	64981812	G	A	64981812	1	1	400	0	1	0	0	0	0	0	0	0	14451	1291	45	2		2	SLC22A20	11	64981812	IGR	SNP	G	TCGA-ET-A40T-01A-11D-A23M-08	96912	64981812	70024704	15	8246											
SRGAP1	57522	broad.mit.edu	37	chr12	64491038	64491038	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taggtgaaaatcctttggctGatgaccagagtaaccatgat	10	7	0	5			TCGA-ET-A40T-01A-11D-A23M-08	TCGA-ET-A40T-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcaa7922-868c-471a-b78c-f22fba89fbbc	2ca23f5a-c310-4dc8-9416-444b90fcbf71	g.chr12:64491038G>A	ENST00000355086.3	+	15	2220	c.1696G>A	c.(1696-1698)Gat>Aat	p.D566N	SRGAP1_ENST00000357825.3_Missense_Mutation_p.D543N|SRGAP1_ENST00000543397.1_Missense_Mutation_p.D503N|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	566	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|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)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TCCTTTGGCTGATGACCAGAG	0.358																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(1696-1698)Gat>Aat		SLIT-ROBO Rho GTPase activating protein 1							72	71	71					12																	64491038		2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64491038G>A	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1696G>A	12.37:g.64491038G>A	ENSP00000347198:p.Asp566Asn					SRGAP1_ENST00000543397.1_Missense_Mutation_p.D503N|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.D543N	p.D566N	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	15	2220	+			566			Rho-GAP.		Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.1696G>A	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427961	0.83667	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.22134	2.98;2.55;1.97	5.12	5.12	0.69794	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.36034	U	0.002837	T	0.29684	0.0741	L	0.49256	1.55	0.80722	D	1	B;B	0.25235	0.121;0.014	B;B	0.38264	0.269;0.038	T	0.05194	-1.0900	9	.	.	.	.	19.4463	0.94849	0.0:0.0:1.0:0.0	.	566;503	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	N	566;543;503	ENSP00000347198:D566N;ENSP00000350480:D543N;ENSP00000437948:D503N	.	D	+	1	0	SRGAP1	62777305	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.692000	0.98682	2.757000	0.94681	0.650000	0.86243	GAT		0.358	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			33	105	0	0	0	1	0	33	105					A	64491038	G	A	64491038	3	1	400	1	0	0	0	0	1	0	0	0	15144	1290	45	2	1754	2	SRGAP1	12	64491038	Missense_Mutation	SNP	G	TCGA-ET-A40T-01A-11D-A23M-08		64491038	69360857	16	8247											
C14orf73	91828	broad.mit.edu	37	chr14	103570295	103570295	+	Frame_Shift_Del	DEL	C	C	-													cagtcctgacttcctgggcgCcccggggctggcgctgcccg							TCGA-ET-A40T-01A-11D-A23M-08	TCGA-ET-A40T-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcaa7922-868c-471a-b78c-f22fba89fbbc	2ca23f5a-c310-4dc8-9416-444b90fcbf71	g.chr14:103570295delC	ENST00000380069.3	+	3	1143	c.1067delC	c.(1066-1068)gccfs	p.A356fs		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	356					exocytosis (GO:0006887)	exocyst (GO:0000145)				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						TTCCTGGGCGCCCCGGGGCTG	0.721																																						ENST00000380069.3																			0				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						c.(1066-1068)gcfs		exocyst complex component 3-like 4							3	3	3					14																	103570295		1611	3465	5076	SO:0001589	frameshift_variant	91828							g.chr14:103570295delC	AK000671	CCDS32163.1	14q32.32	2011-01-31	2011-01-31	2011-01-31	ENSG00000205436	ENSG00000205436			20120	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 73"	C14orf73			Standard	NM_001077594		Approved		uc001ymk.3	Q17RC7		ENST00000380069.3:c.1067delC	14.37:g.103570295delC	ENSP00000369409:p.Ala356fs						p.A356fs	NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN			3	1143	+			356					Q14CR2	Frame_Shift_Del	DEL	ENST00000380069.3	37	c.1067delC	CCDS32163.1																																																																																				0.721	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415663.1	XM_941093		2	4						2	4	---	---	---	---	-	103570295	C	-	103570295	7	5	400	1	0	1	0	1	0	0	0	0	1779	739	26	0	1077	0	C14orf73	14	103570295	Frame_Shift_Del	DEL	C	TCGA-ET-A40T-01A-11D-A23M-08		103570295	3779245	17	8248											
EME2	197342	broad.mit.edu	37	chr16	1824298	1824300	+	In_Frame_Del	DEL	TGC	TGC	-													ggctgcaggtgaacaggaatTgctgctgctgctggagcccg							TCGA-ET-A40T-01A-11D-A23M-08	TCGA-ET-A40T-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcaa7922-868c-471a-b78c-f22fba89fbbc	2ca23f5a-c310-4dc8-9416-444b90fcbf71	g.chr16:1824298_1824300delTGC	ENST00000568449.1	+	3	443_445	c.422_424delTGC	c.(421-426)ttgctg>ttg	p.141_142LL>L	NME3_ENST00000563498.1_5'Flank|NME3_ENST00000219302.3_5'Flank|EME2_ENST00000307394.7_In_Frame_Del_p.141_142LL>L|MRPS34_ENST00000177742.3_5'Flank|MRPS34_ENST00000397375.2_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	141					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GAACAGGAATTGCTGCTGCTGCT	0.655								Direct reversal of damage;Homologous recombination																														ENST00000307394.7																			0				central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						c.(421-426)ttg>t	Direct reversal of damage;Homologous recombination	essential meiotic structure-specific endonuclease subunit 2																																				SO:0001651	inframe_deletion	197342				DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity	g.chr16:1824298_1824300delTGC	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"	610886	"essential meiotic endonuclease 1 homolog 2 (S. pombe)"			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.422_424delTGC	16.37:g.1824307_1824309delTGC	ENSP00000457353:p.Leu145del					EME2_ENST00000568449.1_In_Frame_Del_p.LL143del	p.LL143del			A4GXA9	EME2_HUMAN			3	422_424	+			143					Q8TEP2|Q96RY3	In_Frame_Del	DEL	ENST00000568449.1	37	c.422_424delTGC	CCDS58404.1																																																																																				0.655	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		8	311						8	311	---	---	---	---	-	1824300	TGC	-	1824298	7	5	400	1	0	1	0	1	0	0	0	0	5089	1821	63	0	432	0	EME2	16	1824298	In_Frame_Del	DEL	TGC	TCGA-ET-A40T-01A-11D-A23M-08		1824298	88530455	18	8249											
PDILT	204474	broad.mit.edu	37	chr16	20370700	20370702	+	In_Frame_Del	DEL	CCA	CCA	-													tggaggtccctttggcttagCcaccaccaccaccacctcct							TCGA-ET-A40T-01A-11D-A23M-08	TCGA-ET-A40T-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcaa7922-868c-471a-b78c-f22fba89fbbc	2ca23f5a-c310-4dc8-9416-444b90fcbf71	g.chr16:20370700_20370702delCCA	ENST00000302451.4	-	12	1942_1944	c.1694_1696delTGG	c.(1693-1698)gtggct>gct	p.V565del		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	565					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTTGGCTTAGCCACCACCACCAC	0.478																																						ENST00000302451.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						c.(1693-1698)gct>g		protein disulfide isomerase-like, testis expressed																																				SO:0001651	inframe_deletion	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20370700_20370702delCCA		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"Protein disulfide isomerases"	27338	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 7", "protein disulfide isomerase-like protein of the testis"					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1694_1696delTGG	16.37:g.20370709_20370711delCCA	ENSP00000305465:p.Val565del						p.VA565del	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN			12	1942_1944	-			565					Q8IVQ5	In_Frame_Del	DEL	ENST00000302451.4	37	c.1694_1696delTGG	CCDS10584.1																																																																																				0.478	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		7	699						7	699	---	---	---	---	-	20370702	CCA	-	20370700	7	5	400	1	0	1	0	1	0	0	0	0	11674	739	26	0	62	0	PDILT	16	20370700	In_Frame_Del	DEL	CCA	TCGA-ET-A40T-01A-11D-A23M-08	18546402	20370700	69984053	19	8250											
CCDC135	84229	broad.mit.edu	37	chr16	57731885	57731887	+	In_Frame_Del	DEL	GGA	GGA	-													gaggtcctgagggagaaggtGgaggaggaggaggaggccga					rs143282103		TCGA-ET-A40T-01A-11D-A23M-08	TCGA-ET-A40T-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcaa7922-868c-471a-b78c-f22fba89fbbc	2ca23f5a-c310-4dc8-9416-444b90fcbf71	g.chr16:57731885_57731887delGGA	ENST00000360716.3	+	3	245_247	c.24_26delGGA	c.(22-27)gtggag>gtg	p.E13del	RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000394337.4_In_Frame_Del_p.E13del|CCDC135_ENST00000336825.8_In_Frame_Del_p.E13del			Q8IY82	CC135_HUMAN		13					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						Gggagaaggtggaggaggaggag	0.591																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(22-27)gtg>gt		coiled-coil domain containing 135				27,4237		4,19,2109						4.4	1.0		dbSNP_134	66	47,8207		1,45,4081	no	coding	CCDC135	NM_032269.5		5,64,6190	A1A1,A1R,RR		0.5694,0.6332,0.5911				74,12444				SO:0001651	inframe_deletion	84229					cytoplasm		g.chr16:57731885_57731887delGGA																												ENST00000360716.3:c.24_26delGGA	16.37:g.57731894_57731896delGGA	ENSP00000353942:p.Glu13del					RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del|CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del	p.VE8del			Q8IY82	CC135_HUMAN			3	245_247	+			8					A8K943|Q8NAA0|Q9H080	In_Frame_Del	DEL	ENST00000360716.3	37	c.24_26delGGA	CCDS10787.1																																																																																				0.591	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			8	359						8	359	---	---	---	---	-	57731887	GGA	-	57731885	7	5	400	1	0	1	0	1	0	0	0	0	2769	1335	47	0	26	0	CCDC135	16	57731885	In_Frame_Del	DEL	GGA	TCGA-ET-A40T-01A-11D-A23M-08	37361185	57731885	32622868	20	8251											
TRPV2	51393	broad.mit.edu	37	chr17	16335490	16335492	+	In_Frame_Del	DEL	TGC	TGC	-													gctgcacttccgcggcatggTgctgctgctgctgctggcct							TCGA-ET-A40T-01A-11D-A23M-08	TCGA-ET-A40T-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcaa7922-868c-471a-b78c-f22fba89fbbc	2ca23f5a-c310-4dc8-9416-444b90fcbf71	g.chr17:16335490_16335492delTGC	ENST00000338560.7	+	12	2264_2266	c.1865_1867delTGC	c.(1864-1869)gtgctg>gtg	p.L627del	TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_In_Frame_Del_p.L197del	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	627					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CGCGGCATGGTGCTGCTGCTGCT	0.596																																						ENST00000338560.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(1864-1869)gtg>g		transient receptor potential cation channel, subfamily V, member 2																																				SO:0001651	inframe_deletion	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16335490_16335492delTGC	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.1865_1867delTGC	17.37:g.16335499_16335501delTGC	ENSP00000342222:p.Leu627del					TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_In_Frame_Del_p.VL192del	p.VL622del	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	12	2264_2266	+			622					A6NML2|A8K0Z0|Q9Y670	In_Frame_Del	DEL	ENST00000338560.7	37	c.1865_1867delTGC	CCDS32576.1																																																																																				0.596	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		9	279						9	279	---	---	---	---	-	16335492	TGC	-	16335490	7	5	400	1	0	1	0	1	0	0	0	0	16593	1696	59	0	1907	0	TRPV2	17	16335490	In_Frame_Del	DEL	TGC	TCGA-ET-A40T-01A-11D-A23M-08		16335490	64859720	21	8252											
ZCCHC2	54877	broad.mit.edu	37	chr18	60242771	60242771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaagcagtcgtccatggagGccaatcaacaaggtaatcac	10	10	2	0			TCGA-ET-A40T-01A-11D-A23M-08	TCGA-ET-A40T-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcaa7922-868c-471a-b78c-f22fba89fbbc	2ca23f5a-c310-4dc8-9416-444b90fcbf71	g.chr18:60242771G>A	ENST00000269499.5	+	13	3875	c.3457G>A	c.(3457-3459)Gcc>Acc	p.A1153T	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.A832T	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	1153						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GTCCATGGAGGCCAATCAACA	0.453																																						ENST00000269499.5																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(3457-3459)Gcc>Acc		zinc finger, CCHC domain containing 2							87	83	84					18																	60242771		1948	4156	6104	SO:0001583	missense	54877				cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr18:60242771G>A	AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"Zinc fingers, CCHC domain containing"	22916	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 49"	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.3457G>A	18.37:g.60242771G>A	ENSP00000269499:p.Ala1153Thr					ZCCHC2_ENST00000586834.1_Missense_Mutation_p.A832T	p.A1153T	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN			13	3875	+			1153					B2RPG6|Q8N3S1|Q9NXF6	Missense_Mutation	SNP	ENST00000269499.5	37	c.3457G>A	CCDS45880.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666520	0.67814	.	.	ENSG00000141664	ENST00000269499	T	0.25085	1.82	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.31796	0.0808	N	0.08118	0	0.58432	D	0.999997	D	0.76494	0.999	D	0.65987	0.94	T	0.29119	-1.0022	10	0.36615	T	0.2	-16.9246	19.9103	0.97024	0.0:0.0:1.0:0.0	.	1153	Q9C0B9	ZCHC2_HUMAN	T	1153	ENSP00000269499:A1153T	ENSP00000269499:A1153T	A	+	1	0	ZCCHC2	58393751	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.758000	0.74929	2.779000	0.95612	0.655000	0.94253	GCC		0.453	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450083.1	NM_017742		35	102	0	0	0	1	0	35	102					A	60242771	G	A	60242771	3	1	400	1	0	0	0	0	1	0	0	0	17584	1203	42	2	3507	2	ZCCHC2	18	60242771	Missense_Mutation	SNP	G	TCGA-ET-A40T-01A-11D-A23M-08		60242771	17834477	22	8253											
C18orf22	79863	broad.mit.edu	37	chr18	77794529	77794529	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgggcgggctgtggcgctccCgcgcgggtctccgggccctg	19	16	1	0			TCGA-ET-A40T-01A-11D-A23M-08	TCGA-ET-A40T-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcaa7922-868c-471a-b78c-f22fba89fbbc	2ca23f5a-c310-4dc8-9416-444b90fcbf71	g.chr18:77794529C>G	ENST00000306735.5	+	1	172	c.34C>G	c.(34-36)Cgc>Ggc	p.R12G	RP11-795F19.5_ENST00000569722.1_Missense_Mutation_p.R12G|TXNL4A_ENST00000589926.1_5'Flank|TXNL4A_ENST00000585474.1_5'Flank|TXNL4A_ENST00000592957.1_5'Flank|RBFA_ENST00000262197.7_Missense_Mutation_p.R12G|RBFA_ENST00000586847.1_3'UTR	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	12					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						GTGGCGCTCCCGCGCGGGTCT	0.716																																						ENST00000569722.1																			0											c.(34-36)Cgc>Ggc									8	10	10					18																	77794529		2162	4238	6400	SO:0001583	missense	0							g.chr18:77794529C>G	BC014195	CCDS12021.1, CCDS54194.1	18q23	2010-10-21	2010-10-21	2010-10-21	ENSG00000101546	ENSG00000101546			26120	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 22"	C18orf22		12477932	Standard	NM_024805		Approved	FLJ21172, HsT169	uc002lns.3	Q8N0V3	OTTHUMG00000132923	ENST00000306735.5:c.34C>G	18.37:g.77794529C>G	ENSP00000305696:p.Arg12Gly					RBFA_ENST00000586847.1_3'UTR|RBFA_ENST00000262197.7_Missense_Mutation_p.R12G|RBFA_ENST00000306735.5_Missense_Mutation_p.R12G	p.R12G							1	184	+								Q6PF07|Q8WZ65|Q9H776	Missense_Mutation	SNP	ENST00000306735.5	37	c.34C>G	CCDS12021.1	.	.	.	.	.	.	.	.	.	.	c	9.168	1.020503	0.19433	.	.	ENSG00000101546	ENST00000262197;ENST00000306735	T;T	0.50548	0.74;1.86	2.73	0.704	0.18121	.	.	.	.	.	T	0.28499	0.0705	N	0.22421	0.69	0.09310	N	1	B;B	0.12013	0.005;0.0	B;B	0.08055	0.003;0.0	T	0.19679	-1.0298	9	0.49607	T	0.09	0.5985	3.2685	0.06873	0.0:0.5416:0.2813:0.1771	.	12;12	Q8N0V3-2;Q8N0V3	.;RBFA_HUMAN	G	12	ENSP00000262197:R12G;ENSP00000305696:R12G	ENSP00000262197:R12G	R	+	1	0	RBFA	75895517	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.984000	0.03755	0.021000	0.15133	0.556000	0.70494	CGC		0.716	RBFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256436.2	NM_024805		15	32	0	0	0	1	0	15	32					G	77794529	C	G	77794529	3	3	400	1	0	0	0	0	1	0	0	0	1898	652	23	4	36	4	C18orf22	18	77794529	Missense_Mutation	SNP	C	TCGA-ET-A40T-01A-11D-A23M-08	17551758	77794529	282719	23	8254											
ATP2B3	492	broad.mit.edu	37	chrX	152815009	152815009	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggatgcctgcgagaccatgGgcaacgccacagccatctgc	12	14	1	1			TCGA-ET-A40T-01A-11D-A23M-08	TCGA-ET-A40T-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcaa7922-868c-471a-b78c-f22fba89fbbc	2ca23f5a-c310-4dc8-9416-444b90fcbf71	g.chrX:152815009G>C	ENST00000349466.2	+	10	1719	c.1393G>C	c.(1393-1395)Ggc>Cgc	p.G465R	ATP2B3_ENST00000370186.1_Missense_Mutation_p.G451R|ATP2B3_ENST00000370181.2_Missense_Mutation_p.G451R|ATP2B3_ENST00000263519.4_Missense_Mutation_p.G465R|ATP2B3_ENST00000393842.1_Missense_Mutation_p.G451R|ATP2B3_ENST00000359149.3_Missense_Mutation_p.G465R			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	465					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGAGACCATGGGCAACGCCAC	0.577																																						ENST00000370186.1																			0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(1351-1353)Ggc>Cgc		ATPase, Ca++ transporting, plasma membrane 3							186	145	159					X																	152815009		2203	4300	6503	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152815009G>C	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"ATPases / P-type"	816	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 3", "cilia and flagella associated protein 39"	300014	"spinocerebellar ataxia, X-linked 1", "cerebellar ataxia 2 (X-linked)"	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.1393G>C	X.37:g.152815009G>C	ENSP00000343886:p.Gly465Arg					ATP2B3_ENST00000370181.2_Missense_Mutation_p.G451R|ATP2B3_ENST00000393842.1_Missense_Mutation_p.G451R|ATP2B3_ENST00000359149.3_Missense_Mutation_p.G465R|ATP2B3_ENST00000349466.2_Missense_Mutation_p.G465R|ATP2B3_ENST00000263519.4_Missense_Mutation_p.G465R	p.G451R			Q16720	AT2B3_HUMAN			9	1677	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		465					B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.1351G>C	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	g	22.1	4.249693	0.80024	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.96136	-3.92;-3.92;-3.92;-3.92;-3.92;-3.92	4.83	3.96	0.45880	ATPase, P-type, cytoplasmic domain N (1);	0.054916	0.64402	D	0.000001	D	0.98726	0.9572	H	0.99870	4.87	0.58432	D	0.999992	D;D	0.57899	0.968;0.981	P;D	0.67382	0.895;0.951	D	0.97772	1.0227	10	0.62326	D	0.03	-29.1534	11.2095	0.48790	0.0947:0.0:0.9053:0.0	.	465;465	Q16720;Q16720-2	AT2B3_HUMAN;.	R	451;465;451;465;465;451	ENSP00000359205:G451R;ENSP00000343886:G465R;ENSP00000377425:G451R;ENSP00000352062:G465R;ENSP00000263519:G465R;ENSP00000359200:G451R	ENSP00000263519:G465R	G	+	1	0	ATP2B3	152468203	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.820000	0.99359	0.828000	0.34709	0.525000	0.51046	GGC		0.577	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		34	448	0	0	0	1	0	34	448					C	152815009	G	C	152815009	3	2	400	1	0	0	0	0	1	0	0	0	1141	1232	43	4	1427	4	ATP2B3	23	152815009	Missense_Mutation	SNP	G	TCGA-ET-A40T-01A-11D-A23M-08		152815009	2455551	24	8255											
ADD2	119	broad.mit.edu	37	chr2	70900084	70900084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggctctgcactggagaaGcaggtgcagactttgcaggt	15	9	1	2			TCGA-ET-A4KN-01A-11D-A257-08	TCGA-ET-A4KN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	178d0486-cb0d-4979-8bdf-bb3fe99149bd	e3d4072c-07ef-4978-a687-43828578a9b3	g.chr2:70900084G>A	ENST00000264436.4	-	15	2240	c.1796C>T	c.(1795-1797)gCt>gTt	p.A599V	ADD2_ENST00000355733.3_Missense_Mutation_p.L628F|ADD2_ENST00000407644.2_Missense_Mutation_p.A599V	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	599					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CACTGGAGAAGCAGGTGCAGA	0.512																																						ENST00000264436.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						c.(1795-1797)gCt>gTt		adducin 2 (beta)							38	37	37					2																	70900084		2203	4300	6503	SO:0001583	missense	119				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	g.chr2:70900084G>A	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1796C>T	2.37:g.70900084G>A	ENSP00000264436:p.Ala599Val					ADD2_ENST00000407644.2_Missense_Mutation_p.A599V|ADD2_ENST00000355733.3_Missense_Mutation_p.L628F	p.A599V	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN			15	2240	-			599					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	c.1796C>T	CCDS1906.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.29|13.29	2.191944|2.191944	0.38707|0.38707	.|.	.|.	ENSG00000075340|ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320|ENST00000355733	T;T|T	0.14893|0.08896	2.47;2.47|3.04	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	0.292022|.	0.31872|.	N|.	0.006939|.	T|T	0.12561|0.12561	0.0305|0.0305	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B;B|B	0.06786|0.27791	0.0;0.001|0.189	B;B|B	0.06405|0.31686	0.002;0.001|0.134	T|T	0.02081|0.02081	-1.1217|-1.1217	9|8	0.25106|0.72032	T|D	0.35|0.01	-3.9928|-3.9928	17.9218|17.9218	0.88969|0.88969	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	599;599|628	Q05DK5;P35612|P35612-3	.;ADDB_HUMAN|.	V|F	599;599;351|628	ENSP00000264436:A599V;ENSP00000384677:A599V|ENSP00000347972:L628F	ENSP00000264436:A599V|ENSP00000347972:L628F	A|L	-|-	2|1	0|0	ADD2|ADD2	70753592|70753592	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.514000|0.514000	0.34195|0.34195	3.745000|3.745000	0.55119|0.55119	2.837000|2.837000	0.97791|0.97791	0.655000|0.655000	0.94253|0.94253	GCT|CTT		0.512	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		6	29	0	0	0	1	0	6	29					A	70900084	G	A	70900084	3	1	401	1	0	0	0	0	1	0	0	0	305	971	34	2	392	2	ADD2	2	70900084	Missense_Mutation	SNP	G	TCGA-ET-A4KN-01A-11D-A257-08		70900084	172299289	1	8256											
GLI2	2736	broad.mit.edu	37	chr2	121729541	121729541	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagagcagtgagtcggccGtcagcagcaccgtcaaccct	12	14	2	2	rs370677655		TCGA-ET-A4KN-01A-11D-A257-08	TCGA-ET-A4KN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	178d0486-cb0d-4979-8bdf-bb3fe99149bd	e3d4072c-07ef-4978-a687-43828578a9b3	g.chr2:121729541G>A	ENST00000452319.1	+	8	1144	c.1084G>A	c.(1084-1086)Gtc>Atc	p.V362I	GLI2_ENST00000314490.11_Missense_Mutation_p.V34I|GLI2_ENST00000361492.4_Missense_Mutation_p.V362I|GLI2_ENST00000435313.2_3'UTR					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TGAGTCGGCCGTCAGCAGCAC	0.592																																						ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1084-1086)Gtc>Atc		GLI family zinc finger 2		G	ILE/VAL	0,4406		0,0,2203	64	58	60		1084	4.8	0.9	2		60	1,8599	1.2+/-3.3	0,1,4299	no	missense	GLI2	NM_005270.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	362/1587	121729541	1,13005	2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121729541G>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1084G>A	2.37:g.121729541G>A	ENSP00000390436:p.Val362Ile					GLI2_ENST00000314490.11_Missense_Mutation_p.V34I|GLI2_ENST00000361492.4_Missense_Mutation_p.V362I|GLI2_ENST00000435313.2_3'UTR	p.V362I			P10070	GLI2_HUMAN			8	1144	+	Renal(3;0.0496)	Prostate(154;0.0623)	362						Missense_Mutation	SNP	ENST00000452319.1	37	c.1084G>A	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158123	0.78114	0.0	1.16E-4	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	T;T;T	0.18810	2.19;2.19;2.19	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.49372	0.1553	M	0.79475	2.455	0.58432	D	0.999994	P;D;D;D;D	0.89917	0.835;0.999;0.999;0.999;1.0	B;D;D;D;D	0.81914	0.137;0.979;0.991;0.948;0.995	T	0.53920	-0.8370	10	0.66056	D	0.02	.	18.0581	0.89369	0.0:0.0:1.0:0.0	.	362;362;34;34;34	P10070;Q0VGA0;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.;.	I	362;362;34	ENSP00000390436:V362I;ENSP00000354586:V362I;ENSP00000312694:V34I	ENSP00000312694:V34I	V	+	1	0	GLI2	121446011	1.000000	0.71417	0.947000	0.38551	0.161000	0.22273	9.652000	0.98499	2.498000	0.84270	0.561000	0.74099	GTC		0.592	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		12	47	0	0	0	1	0	12	47					A	121729541	G	A	121729541	3	1	401	1	0	0	0	0	1	0	0	0	6438	1145	40	1	1110	1	GLI2	2	121729541	Missense_Mutation	SNP	G	TCGA-ET-A4KN-01A-11D-A257-08	50829457	121729541	121469832	2	8257											
BOD1L	259282	broad.mit.edu	37	chr4	13597501	13597501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacctattccacttggctttCccccacacagactttctggt	5	16	1	1			TCGA-ET-A4KN-01A-11D-A257-08	TCGA-ET-A4KN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	178d0486-cb0d-4979-8bdf-bb3fe99149bd	e3d4072c-07ef-4978-a687-43828578a9b3	g.chr4:13597501C>T	ENST00000040738.5	-	12	8222	c.8087G>A	c.(8086-8088)gGa>gAa	p.G2696E		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2696						nucleus (GO:0005634)	DNA binding (GO:0003677)										ACTTGGCTTTCCCCCACACAG	0.378																																						ENST00000040738.5																			0											c.(8086-8088)gGa>gAa		biorientation of chromosomes in cell division 1-like 1							179	185	183					4																	13597501		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13597501C>T	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.8087G>A	4.37:g.13597501C>T	ENSP00000040738:p.Gly2696Glu						p.G2696E	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			12	8222	-			2696					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.8087G>A	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.570811	0.00895	.	.	ENSG00000038219	ENST00000040738	T	0.05786	3.39	4.84	-4.41	0.03590	.	1.173830	0.06193	N	0.681784	T	0.03695	0.0105	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45116	-0.9283	10	0.27082	T	0.32	-0.0285	13.0357	0.58870	0.0:0.2371:0.0:0.7629	.	2696	Q8NFC6	BOD1L_HUMAN	E	2696	ENSP00000040738:G2696E	ENSP00000040738:G2696E	G	-	2	0	BOD1L	13206599	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.715000	0.04997	-0.924000	0.03780	-0.355000	0.07637	GGA		0.378	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		16	123	0	0	0	1	0	16	123					T	13597501	C	T	13597501	3	4	401	1	0	0	0	0	1	0	0	0	1483	855	30	2	1128	2	BOD1L	4	13597501	Missense_Mutation	SNP	C	TCGA-ET-A4KN-01A-11D-A257-08		13597501	177556775	3	8258											
CDKN1A	1026	broad.mit.edu	37	chr6	36651904	36651904	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agaaccggctggggatgtccGtcagaacccatgcggcagca	14	12	1	2	rs143419412	byFrequency	TCGA-ET-A4KN-01A-11D-A257-08	TCGA-ET-A4KN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	178d0486-cb0d-4979-8bdf-bb3fe99149bd	e3d4072c-07ef-4978-a687-43828578a9b3	g.chr6:36651904G>C	ENST00000405375.1	+	2	261	c.26G>C	c.(25-27)cGt>cCt	p.R9P	CDKN1A_ENST00000244741.5_Missense_Mutation_p.R9P|CDKN1A_ENST00000373711.2_Missense_Mutation_p.R9P|CDKN1A_ENST00000448526.2_Missense_Mutation_p.R43P|CDKN1A_ENST00000478800.1_3'UTR	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	9					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						GGGGATGTCCGTCAGAACCCA	0.632																																						ENST00000405375.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						c.(25-27)cGt>cCt		cyclin-dependent kinase inhibitor 1A (p21, Cip1)							28	29	29					6																	36651904		2203	4300	6503	SO:0001583	missense	1026				cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding	g.chr6:36651904G>C	U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	ENST00000405375.1:c.26G>C	6.37:g.36651904G>C	ENSP00000384849:p.Arg9Pro					CDKN1A_ENST00000244741.5_Missense_Mutation_p.R9P|CDKN1A_ENST00000448526.2_Missense_Mutation_p.R43P|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000373711.2_Missense_Mutation_p.R9P	p.R9P	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN			2	261	+			9					Q14010|Q6FI05|Q9BUT4	Missense_Mutation	SNP	ENST00000405375.1	37	c.26G>C	CCDS4824.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.816583	0.32145	.	.	ENSG00000124762	ENST00000448526;ENST00000244741;ENST00000405375;ENST00000373711	D;D;D;D	0.82081	-1.54;-1.57;-1.57;-1.57	5.06	-0.214	0.13161	.	0.538000	0.17088	N	0.187482	T	0.55386	0.1917	L	0.54323	1.7	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.003	T	0.48948	-0.8989	10	0.46703	T	0.11	-0.2002	1.9604	0.03385	0.1877:0.3482:0.3256:0.1385	.	43;9;9	B4DQP9;P38936;Q96LE1	.;CDN1A_HUMAN;.	P	43;9;9;9	ENSP00000409259:R43P;ENSP00000244741:R9P;ENSP00000384849:R9P;ENSP00000362815:R9P	ENSP00000244741:R9P	R	+	2	0	CDKN1A	36759882	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.184000	0.09698	-0.252000	0.09528	0.561000	0.74099	CGT		0.632	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040354.1	NM_078467		7	32	0	0	0	1	0	7	32					C	36651904	G	C	36651904	3	2	401	1	0	0	0	0	1	0	0	0	3158	1145	40	4	28	4	CDKN1A	6	36651904	Missense_Mutation	SNP	G	TCGA-ET-A4KN-01A-11D-A257-08		36651904	134463163	4	8259											
PTK2B	2185	broad.mit.edu	37	chr8	27291612	27291612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctcctctcttcctagatGgtgagaagcggaacagcctg	10	12	1	2			TCGA-ET-A4KN-01A-11D-A257-08	TCGA-ET-A4KN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	178d0486-cb0d-4979-8bdf-bb3fe99149bd	e3d4072c-07ef-4978-a687-43828578a9b3	g.chr8:27291612G>A	ENST00000397501.1	+	17	1916	c.1108G>A	c.(1108-1110)Ggt>Agt	p.G370S	PTK2B_ENST00000420218.2_Missense_Mutation_p.G370S|PTK2B_ENST00000338238.4_Missense_Mutation_p.G370S|PTK2B_ENST00000346049.5_Missense_Mutation_p.G370S|PTK2B_ENST00000397497.4_Missense_Mutation_p.G116S|PTK2B_ENST00000544172.1_Missense_Mutation_p.G370S|PTK2B_ENST00000517339.1_Missense_Mutation_p.G370S	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	370					activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	CTTCCTAGATGGTGAGAAGCG	0.582																																						ENST00000397501.1																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(1108-1110)Ggt>Agt		protein tyrosine kinase 2 beta							124	116	119					8																	27291612		2203	4300	6503	SO:0001583	missense	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27291612G>A	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"protein tyrosine kinase 2 beta", "PTK2B protein tyrosine kinase 2 beta"	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.1108G>A	8.37:g.27291612G>A	ENSP00000380638:p.Gly370Ser					PTK2B_ENST00000544172.1_Missense_Mutation_p.G370S|PTK2B_ENST00000397497.4_Missense_Mutation_p.G116S|PTK2B_ENST00000338238.4_Missense_Mutation_p.G370S|PTK2B_ENST00000346049.5_Missense_Mutation_p.G370S|PTK2B_ENST00000517339.1_Missense_Mutation_p.G370S|PTK2B_ENST00000420218.2_Missense_Mutation_p.G370S	p.G370S	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	17	1916	+		Ovarian(32;2.72e-05)	370					D3DST0|Q13475|Q14290|Q16709|Q6PID4	Missense_Mutation	SNP	ENST00000397501.1	37	c.1108G>A	CCDS6057.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.28|15.28	2.785508|2.785508	0.49997|0.49997	.|.	.|.	ENSG00000120899|ENSG00000120899	ENST00000397501;ENST00000539100;ENST00000338238;ENST00000544172;ENST00000346049;ENST00000420218;ENST00000517339;ENST00000397497|ENST00000519512	T;T;T;T;T;T;T|.	0.74526|.	-0.85;-0.8;-0.85;-0.85;-0.8;-0.8;-0.81|.	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	0.447714|.	0.26262|.	N|.	0.025394|.	T|.	0.48909|.	0.1526|.	L|L	0.36672|0.36672	1.1|1.1	0.35223|0.35223	D|D	0.776227|0.776227	B;B;B;B|.	0.13145|.	0.004;0.001;0.007;0.003|.	B;B;B;B|.	0.17098|.	0.005;0.003;0.011;0.017|.	T|.	0.57183|.	-0.7855|.	10|.	0.32370|.	T|.	0.25|.	.|.	9.8231|9.8231	0.40894|0.40894	0.0939:0.0:0.9061:0.0|0.0939:0.0:0.9061:0.0	.|.	375;116;370;370|.	Q59GM4;E9PBI4;Q14289-2;Q14289|.	.;.;.;FAK2_HUMAN|.	S|X	370;375;370;370;370;370;370;116|130	ENSP00000380638:G370S;ENSP00000342242:G370S;ENSP00000440926:G370S;ENSP00000332816:G370S;ENSP00000391995:G370S;ENSP00000427931:G370S;ENSP00000380634:G116S|.	ENSP00000342242:G370S|.	G|W	+|+	1|2	0|0	PTK2B|PTK2B	27347529|27347529	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.806000|0.806000	0.45545|0.45545	2.182000|2.182000	0.42556|0.42556	2.414000|2.414000	0.81942|0.81942	0.655000|0.655000	0.94253|0.94253	GGT|TGG		0.582	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		22	89	0	0	0	1	0	22	89					A	27291612	G	A	27291612	3	1	401	1	0	0	0	0	1	0	0	0	12763	1348	47	2	1150	2	PTK2B	8	27291612	Missense_Mutation	SNP	G	TCGA-ET-A4KN-01A-11D-A257-08		27291612	119072410	5	8260											
C10orf54	64115	broad.mit.edu	37	chr10	73521443	73521443	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaggcagcagtagaggccGctatccagcagggtcaggtt	14	11	1	1			TCGA-ET-A4KN-01A-11D-A257-08	TCGA-ET-A4KN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	178d0486-cb0d-4979-8bdf-bb3fe99149bd	e3d4072c-07ef-4978-a687-43828578a9b3	g.chr10:73521443G>A	ENST00000394957.3	-	2	481	c.423C>T	c.(421-423)agC>agT	p.S141S	C10orf54_ENST00000481568.2_5'UTR|CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	141	Ig-like.				BMP signaling pathway (GO:0030509)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of T cell cytokine production (GO:0002725)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of stem cell differentiation (GO:2000738)|stem cell differentiation (GO:0048863)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						AGTAGAGGCCGCTATCCAGCA	0.642																																						ENST00000394957.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(421-423)agC>agT		chromosome 10 open reading frame 54							59	54	56					10																	73521443		2203	4300	6503	SO:0001819	synonymous_variant	64115					integral to membrane	receptor activity	g.chr10:73521443G>A	AF193048	CCDS31218.1	10q22.1	2013-11-28			ENSG00000107738	ENSG00000107738		"Immunoglobulin superfamily / V-set domain containing"	30085	protein-coding gene	gene with protein product	"stress induced secreted protein 1"	615608				12975309	Standard	NM_022153		Approved	SISP1, GI24, B7-H5, B7H5	uc001jsd.3	Q9H7M9	OTTHUMG00000018426	ENST00000394957.3:c.423C>T	10.37:g.73521443G>A						C10orf54_ENST00000481568.1_5'UTR|CDH23_ENST00000224721.6_Intron	p.S141S	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN			2	481	-			141			Ig-like.		A1L0X9|A4ZYV1|A8MVH5|Q6UXF3|Q8WUG3|Q8WYZ8	Silent	SNP	ENST00000394957.3	37	c.423C>T	CCDS31218.1																																																																																				0.642	C10orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048548.1	NM_022153		3	38	0	0	0	1	0	3	38					A	73521443	G	A	73521443	2	1	401	1	0	0	0	0	0	0	0	1	1607	1078	38	1		1	C10orf54	10	73521443	Silent	SNP	G	TCGA-ET-A4KN-01A-11D-A257-08		73521443	62013304	6	8261											
ITGA7	3679	broad.mit.edu	37	chr12	56091578	56091578	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acagggagtagccgaagctcTtgatgcccacagcctcgccc	11	15	1	1			TCGA-ET-A4KN-01A-11D-A257-08	TCGA-ET-A4KN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	178d0486-cb0d-4979-8bdf-bb3fe99149bd	e3d4072c-07ef-4978-a687-43828578a9b3	g.chr12:56091578T>G	ENST00000555728.1	-	10	1470	c.1442A>C	c.(1441-1443)aAg>aCg	p.K481T	ITGA7_ENST00000553804.1_Missense_Mutation_p.K441T|ITGA7_ENST00000257880.7_Missense_Mutation_p.K481T|ITGA7_ENST00000452168.2_Missense_Mutation_p.K344T|ITGA7_ENST00000394230.2_Missense_Mutation_p.K441T|ITGA7_ENST00000394229.2_Missense_Mutation_p.K437T|ITGA7_ENST00000347027.6_Missense_Mutation_p.K437T|ITGA7_ENST00000257879.6_Missense_Mutation_p.K437T			Q13683	ITA7_HUMAN	integrin, alpha 7	481					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCCGAAGCTCTTGATGCCCAC	0.622																																						ENST00000257880.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1441-1443)aAg>aCg		integrin, alpha 7							97	97	97					12																	56091578		2203	4300	6503	SO:0001583	missense	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56091578T>G		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"Integrins"	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.1442A>C	12.37:g.56091578T>G	ENSP00000452387:p.Lys481Thr					ITGA7_ENST00000553804.1_Missense_Mutation_p.K441T|ITGA7_ENST00000394230.2_Missense_Mutation_p.K441T|ITGA7_ENST00000394229.2_Missense_Mutation_p.K437T|ITGA7_ENST00000347027.6_Missense_Mutation_p.K437T|ITGA7_ENST00000257879.6_Missense_Mutation_p.K437T|ITGA7_ENST00000452168.2_Missense_Mutation_p.K344T|ITGA7_ENST00000555728.1_Missense_Mutation_p.K481T	p.K481T			Q13683	ITA7_HUMAN			10	1661	-			481					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37	c.1442A>C		.	.	.	.	.	.	.	.	.	.	T	8.202	0.798338	0.16397	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;-0.53;-0.53;-0.53;-0.53	4.28	-1.67	0.08238	.	0.494083	0.19772	N	0.106405	T	0.45458	0.1343	N	0.16130	0.375	0.38961	D	0.958542	B;B;B;B	0.18461	0.028;0.003;0.011;0.018	B;B;B;B	0.18871	0.023;0.007;0.023;0.021	T	0.09037	-1.0693	10	0.48119	T	0.1	.	4.6958	0.12802	0.0:0.3193:0.1599:0.5208	.	344;481;441;500	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	T	441;437;437;344;481;441;437;481;481	ENSP00000452120:K441T;ENSP00000257879:K437T;ENSP00000343009:K437T;ENSP00000393844:K344T;ENSP00000257880:K481T;ENSP00000377777:K441T;ENSP00000377776:K437T;ENSP00000452387:K481T	ENSP00000257879:K437T	K	-	2	0	ITGA7	54377845	0.000000	0.05858	0.982000	0.44146	0.579000	0.36224	-1.670000	0.01956	-0.114000	0.11936	-0.366000	0.07423	AAG		0.622	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		7	121	0	0	0	1	0	7	121					G	56091578	T	G	56091578	3	3	401	1	0	0	0	0	1	0	0	0	7881	1609	56	5	2171	5	ITGA7	12	56091578	Missense_Mutation	SNP	T	TCGA-ET-A4KN-01A-11D-A257-08		56091578	77760317	7	8262											
MON2	23041	broad.mit.edu	37	chr12	62986421	62986421	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacccaactttagtagaatgCatcacctgttcttcttcaga	5	11	4	2			TCGA-ET-A4KN-01A-11D-A257-08	TCGA-ET-A4KN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	178d0486-cb0d-4979-8bdf-bb3fe99149bd	e3d4072c-07ef-4978-a687-43828578a9b3	g.chr12:62986421C>T	ENST00000393632.2	+	35	5437	c.5046C>T	c.(5044-5046)tgC>tgT	p.C1682C	MON2_ENST00000551397.1_Silent_p.C56C|MON2_ENST00000552738.1_Silent_p.C1653C|MON2_ENST00000393629.2_Silent_p.C1676C|MON2_ENST00000546600.1_3'UTR|MON2_ENST00000393630.3_Silent_p.C1683C	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1682					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TAGTAGAATGCATCACCTGTT	0.393																																						ENST00000393630.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57						c.(5047-5049)tgC>tgT		MON2 homolog (S. cerevisiae)							131	119	123					12																	62986421		2203	4300	6503	SO:0001819	synonymous_variant	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62986421C>T		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"MON2 homolog (yeast)"			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.5046C>T	12.37:g.62986421C>T						MON2_ENST00000546600.1_3'UTR|MON2_ENST00000393632.2_Silent_p.C1682C|MON2_ENST00000551397.1_Silent_p.C56C|MON2_ENST00000393629.2_Silent_p.C1676C|MON2_ENST00000552738.1_Silent_p.C1653C	p.C1683C	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	36	5440	+			1683					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Silent	SNP	ENST00000393632.2	37	c.5049C>T	CCDS31849.1																																																																																				0.393	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		22	43	0	0	0	1	0	22	43					T	62986421	C	T	62986421	2	4	401	1	0	0	0	0	0	0	0	1	9700	718	25	2		2	MON2	12	62986421	Silent	SNP	C	TCGA-ET-A4KN-01A-11D-A257-08	6894843	62986421	70865474	8	8263											
PRC1	9055	broad.mit.edu	37	chr15	91517940	91517940	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttcccacaattcaattcGtgccttcaactcttcttcca	3	15	4	0	rs549267890		TCGA-ET-A4KN-01A-11D-A257-08	TCGA-ET-A4KN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	178d0486-cb0d-4979-8bdf-bb3fe99149bd	e3d4072c-07ef-4978-a687-43828578a9b3	g.chr15:91517940G>A	ENST00000361188.5	-	10	2436	c.1225C>T	c.(1225-1227)Cga>Tga	p.R409*	PRC1_ENST00000394249.3_Nonsense_Mutation_p.R409*|PRC1_ENST00000442656.2_Nonsense_Mutation_p.R368*|PRC1_ENST00000361919.3_Nonsense_Mutation_p.R409*|Y_RNA_ENST00000363272.1_RNA|PRC1-AS1_ENST00000554388.1_RNA|PRC1-AS1_ENST00000556200.1_RNA					protein regulator of cytokinesis 1											endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					AATTCAATTCGTGCCTTCAAC	0.413																																						ENST00000361188.5																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25						c.(1225-1227)Cga>Tga		protein regulator of cytokinesis 1							343	308	320					15																	91517940		2198	4298	6496	SO:0001587	stop_gained	9055				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding	g.chr15:91517940G>A	AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"anaphase spindle elongation 1 homolog (S. cerevisiae)"	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.1225C>T	15.37:g.91517940G>A	ENSP00000354679:p.Arg409*					PRC1_ENST00000361919.3_Nonsense_Mutation_p.R409*|PRC1_ENST00000442656.2_Nonsense_Mutation_p.R368*|PRC1_ENST00000394249.3_Nonsense_Mutation_p.R409*|PRC1-AS1_ENST00000554388.1_RNA	p.R409*			O43663	PRC1_HUMAN			10	2436	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		409			Spectrin-fold.			Nonsense_Mutation	SNP	ENST00000361188.5	37	c.1225C>T	CCDS45352.1	.	.	.	.	.	.	.	.	.	.	G	47	13.332810	0.99735	.	.	ENSG00000198901	ENST00000394249;ENST00000361919;ENST00000361188;ENST00000555455;ENST00000442656	.	.	.	5.54	3.56	0.40772	.	0.570075	0.19903	N	0.103471	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	14.4014	0.67050	0.0:0.0:0.5522:0.4478	.	.	.	.	X	409;409;409;12;368	.	ENSP00000354679:R409X	R	-	1	2	PRC1	89318944	0.010000	0.17322	0.547000	0.28179	0.946000	0.59487	0.995000	0.29706	1.523000	0.49018	0.650000	0.86243	CGA		0.413	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	NM_003981		9	199	0	0	0	1	0	9	199					A	91517940	G	A	91517940	4	1	401	1	0	0	0	0	0	1	0	0	12446	1153	40	1	661	1	PRC1	15	91517940	Nonsense_Mutation	SNP	G	TCGA-ET-A4KN-01A-11D-A257-08		91517940	11013452	9	8264											
C16orf5	29965	broad.mit.edu	37	chr16	4563025	4563025	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtagggccctggggggtaGtagcccatgggtgggtgggg	23	6	0	0			TCGA-ET-A4KN-01A-11D-A257-08	TCGA-ET-A4KN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	178d0486-cb0d-4979-8bdf-bb3fe99149bd	e3d4072c-07ef-4978-a687-43828578a9b3	g.chr16:4563025G>A	ENST00000399599.3	-	4	830	c.282C>T	c.(280-282)taC>taT	p.Y94Y	CDIP1_ENST00000567695.1_Silent_p.Y94Y|CDIP1_ENST00000563507.1_Intron|CDIP1_ENST00000562334.1_Intron|CDIP1_ENST00000563332.2_Silent_p.Y94Y|CDIP1_ENST00000564828.1_Intron			Q9H305	CDIP1_HUMAN	cell death-inducing p53 target 1	94	Pro-rich.				apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	nucleus (GO:0005634)											CTGGGGGGTAGTAGCCCATGG	0.657																																						ENST00000399599.3																			0											c.(280-282)taC>taT		cell death-inducing p53 target 1							10	11	10					16																	4563025		1844	4053	5897	SO:0001819	synonymous_variant	29965							g.chr16:4563025G>A	AF131218	CCDS42114.1, CCDS58419.1, CCDS58420.1	16p13.3	2012-11-14	2012-11-14	2012-11-14	ENSG00000089486	ENSG00000089486			13234	protein-coding gene	gene with protein product	"cell death involved p53-target", "lipopolysaccharide-induced TNF factor-like"	610503	"chromosome 16 open reading frame 5"	C16orf5		10570909, 17599062	Standard	NM_013399		Approved	CDIP, LITAFL	uc002cww.3	Q9H305	OTTHUMG00000177172	ENST00000399599.3:c.282C>T	16.37:g.4563025G>A						CDIP1_ENST00000564828.1_Intron|CDIP1_ENST00000562334.1_Intron|CDIP1_ENST00000567695.1_Silent_p.Y94Y|CDIP1_ENST00000563507.1_Intron|CDIP1_ENST00000563332.2_Silent_p.Y94Y	p.Y94Y							4	830	-								A8K7M1|B4DFU1|B4DY75|D3DUD6|Q96ID8|Q9H0Q4|Q9P112	Silent	SNP	ENST00000399599.3	37	c.282C>T	CCDS42114.1																																																																																				0.657	CDIP1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435718.2	NM_013399		3	3	0	0	0	1	0	3	3					A	4563025	G	A	4563025	2	1	401	1	0	0	0	0	0	0	0	1	1817	1024	36	2		2	C16orf5	16	4563025	Silent	SNP	G	TCGA-ET-A4KN-01A-11D-A257-08		4563025	85791728	10	8265											
MMP2	4313	broad.mit.edu	37	chr16	55516924	55516924	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gttctttggactgccccagaCaggtgatcttgaccagaata	10	10	2	4			TCGA-ET-A4KN-01A-11D-A257-08	TCGA-ET-A4KN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	178d0486-cb0d-4979-8bdf-bb3fe99149bd	e3d4072c-07ef-4978-a687-43828578a9b3	g.chr16:55516924C>G	ENST00000219070.4	+	2	766	c.257C>G	c.(256-258)aCa>aGa	p.T86R	MMP2_ENST00000570308.1_Missense_Mutation_p.T10R|MMP2_ENST00000437642.2_Missense_Mutation_p.T36R|MMP2_ENST00000543485.1_Missense_Mutation_p.T10R	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	86					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)	CTGCCCCAGACAGGTGATCTT	0.532																																						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.(256-258)aCa>aGa		matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	Marimastat(DB00786)|Sulindac(DB00605)						126	118	121					16																	55516924		2198	4300	6498	SO:0001583	missense	0				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55516924C>G		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.257C>G	16.37:g.55516924C>G	ENSP00000219070:p.Thr86Arg					MMP2_ENST00000437642.2_Missense_Mutation_p.T36R|MMP2_ENST00000543485.1_Missense_Mutation_p.T10R|MMP2_ENST00000570308.1_Missense_Mutation_p.T10R	p.T86R	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)	2	766	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	86					B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	ENST00000219070.4	37	c.257C>G	CCDS10752.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.714076	0.89112	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.55588	0.51;0.51;0.51	5.05	5.05	0.67936	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.050205	0.85682	D	0.000000	T	0.81531	0.4842	H	0.95679	3.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.87679	0.2546	10	0.87932	D	0	.	18.4152	0.90567	0.0:1.0:0.0:0.0	.	36;86	E9PE45;P08253	.;MMP2_HUMAN	R	86;10;36	ENSP00000219070:T86R;ENSP00000444143:T10R;ENSP00000394237:T36R	ENSP00000219070:T86R	T	+	2	0	MMP2	54074425	1.000000	0.71417	0.998000	0.56505	0.912000	0.54170	7.818000	0.86416	2.354000	0.79902	0.460000	0.39030	ACA		0.532	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			12	81	0	0	0	1	0	12	81					G	55516924	C	G	55516924	3	3	401	1	0	0	0	0	1	0	0	0	9658	478	17	4	270	4	MMP2	16	55516924	Missense_Mutation	SNP	C	TCGA-ET-A4KN-01A-11D-A257-08	50953899	55516924	34837829	11	8266											
MED11	400569	broad.mit.edu	37	chr17	4634849	4634849	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacattgaacgggaaatcgGcgccatccttcagaatgcag	11	10	1	3			TCGA-ET-A4KN-01A-11D-A257-08	TCGA-ET-A4KN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	178d0486-cb0d-4979-8bdf-bb3fe99149bd	e3d4072c-07ef-4978-a687-43828578a9b3	g.chr17:4634849G>A	ENST00000293777.5	+	1	121	c.65G>A	c.(64-66)gGc>gAc	p.G22D	MED11_ENST00000573708.1_Missense_Mutation_p.G22D|CXCL16_ENST00000576153.1_5'Flank|RP11-314A20.5_ENST00000570493.2_RNA|MED11_ENST00000575284.1_Missense_Mutation_p.G22D	NM_001001683.2	NP_001001683.1	Q9P086	MED11_HUMAN	mediator complex subunit 11	22						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			lung(2)|ovary(2)	4						CGGGAAATCGGCGCCATCCTT	0.577											OREG0024104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000293777.5																			0				lung(2)|ovary(2)	4						c.(64-66)gGc>gAc		mediator complex subunit 11							94	75	82					17																	4634849		2203	4300	6503	SO:0001583	missense	400569				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	protein binding	g.chr17:4634849G>A	AF161414	CCDS32533.1	17p13.2	2007-07-30	2007-07-30			ENSG00000161920			32687	protein-coding gene	gene with protein product		612383	"mediator of RNA polymerase II transcription, subunit 11 homolog (S. cerevisiae)"			15175163, 12584197	Standard	NM_001001683		Approved	HSPC296, MGC88387	uc002fyp.3	Q9P086		ENST00000293777.5:c.65G>A	17.37:g.4634849G>A	ENSP00000293777:p.Gly22Asp		OREG0024104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	620	MED11_ENST00000575284.1_Missense_Mutation_p.G22D|MED11_ENST00000573708.1_Missense_Mutation_p.G22D	p.G22D	NM_001001683.2	NP_001001683.1	Q9P086	MED11_HUMAN			1	121	+			22					Q6NS89	Missense_Mutation	SNP	ENST00000293777.5	37	c.65G>A	CCDS32533.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.009514	0.75046	.	.	ENSG00000161920	ENST00000293777	.	.	.	5.06	5.06	0.68205	.	0.066615	0.56097	D	0.000030	T	0.31702	0.0805	N	0.08118	0	0.43242	D	0.995152	B	0.26195	0.144	B	0.23852	0.049	T	0.15263	-1.0443	9	0.39692	T	0.17	-25.2285	11.6077	0.51041	0.0:0.1796:0.8204:0.0	.	22	Q9P086	MED11_HUMAN	D	22	.	ENSP00000293777:G22D	G	+	2	0	MED11	4581598	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.826000	0.62715	2.630000	0.89119	0.655000	0.94253	GGC		0.577	MED11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439574.1	NM_001001683		10	37	0	0	0	1	0	10	37					A	4634849	G	A	4634849	3	1	401	1	0	0	0	0	1	0	0	0	9427	1203	42	2	67	2	MED11	17	4634849	Missense_Mutation	SNP	G	TCGA-ET-A4KN-01A-11D-A257-08		4634849	76560361	12	8267											
C1orf127	148345	broad.mit.edu	37	chr1	11008888	11008888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttggctgtttgcaggaatGgtccaagccccttcttcacc	10	12	2	0			TCGA-ET-A4KQ-01A-12D-A257-08	TCGA-ET-A4KQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e	096007b2-e058-4848-8a88-4fb06e30b2d5	g.chr1:11008888G>A	ENST00000377008.4	-	11	1249	c.803C>T	c.(802-804)cCa>cTa	p.P268L	C1orf127_ENST00000377004.4_Missense_Mutation_p.P435L			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	268	Pro-rich.									NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		TTGCAGGAATGGTCCAAGCCC	0.557																																						ENST00000377004.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32						c.(1303-1305)cCa>cTa		chromosome 1 open reading frame 127							32	38	36					1																	11008888		2198	4294	6492	SO:0001583	missense	148345							g.chr1:11008888G>A	AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.803C>T	1.37:g.11008888G>A	ENSP00000366207:p.Pro268Leu					C1orf127_ENST00000377008.4_Missense_Mutation_p.P268L	p.P435L	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)	12	1303	-	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	286					A0AVG8|A6NKM7|Q5VXJ2	Missense_Mutation	SNP	ENST00000377008.4	37	c.1304C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.78|11.78	1.739921|1.739921	0.30865|0.30865	.|.	.|.	ENSG00000175262|ENSG00000175262	ENST00000418570;ENST00000520253|ENST00000377004;ENST00000377008	.|T;T	.|0.38401	.|1.14;1.14	4.89|4.89	-1.87|-1.87	0.07737|0.07737	.|.	.|1.157910	.|0.06614	.|N	.|0.756178	T|T	0.20941|0.20941	0.0504|0.0504	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.21225	.|0.053;0.053;0.053	.|B;B;B	.|0.19391	.|0.025;0.025;0.025	T|T	0.31447|0.31447	-0.9943|-0.9943	5|10	.|0.66056	.|D	.|0.02	0.0311|0.0311	1.5369|1.5369	0.02547|0.02547	0.249:0.2556:0.365:0.1304|0.249:0.2556:0.365:0.1304	.|.	.|286;260;268	.|B7ZLG7;Q8N9H9-2;Q8N9H9	.|.;.;CA127_HUMAN	Y|L	270;387|435;268	.|ENSP00000366203:P435L;ENSP00000366207:P268L	.|ENSP00000366203:P435L	H|P	-|-	1|2	0|0	C1orf127|C1orf127	10931475|10931475	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.006000|0.006000	0.05464|0.05464	-0.516000|-0.516000	0.06282|0.06282	-0.276000|-0.276000	0.09206|0.09206	0.491000|0.491000	0.48974|0.48974	CAT|CCA		0.557	C1orf127-202	KNOWN	basic	protein_coding	protein_coding		NM_173507		3	52	0	0	0	1	0	3	52					A	11008888	G	A	11008888	3	1	402	1	0	0	0	0	1	0	0	0	1994	1348	47	2	1171	2	C1orf127	1	11008888	Missense_Mutation	SNP	G	TCGA-ET-A4KQ-01A-12D-A257-08		11008888	238241733	1	8268											
FAM179A	165186	broad.mit.edu	37	chr2	29240059	29240059	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtctgcccgggagaagatgCagctgaagcagatgaaggag	16	7	1	5			TCGA-ET-A4KQ-01A-12D-A257-08	TCGA-ET-A4KQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e	096007b2-e058-4848-8a88-4fb06e30b2d5	g.chr2:29240059C>T	ENST00000379558.4	+	9	1435	c.1084C>T	c.(1084-1086)Cag>Tag	p.Q362*	FAM179A_ENST00000403861.2_Nonsense_Mutation_p.Q362*|FAM179A_ENST00000465300.1_Intron	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	362			Q -> R (in dbSNP:rs11127202).							breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGAGAAGATGCAGCTGAAGCA	0.537																																						ENST00000379558.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1084-1086)Cag>Tag		family with sequence similarity 179, member A							108	113	111					2																	29240059		2027	4192	6219	SO:0001587	stop_gained	165186						binding	g.chr2:29240059C>T	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.1084C>T	2.37:g.29240059C>T	ENSP00000368876:p.Gln362*					FAM179A_ENST00000403861.2_Nonsense_Mutation_p.Q362*|FAM179A_ENST00000465300.1_Intron	p.Q362*	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN			9	1435	+			362		Q -> R (in dbSNP:rs11127202).			Q6ZUF5	Nonsense_Mutation	SNP	ENST00000379558.4	37	c.1084C>T	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	C	38	6.813352	0.97857	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	.	.	.	4.75	1.88	0.25563	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	7.6736	0.28473	0.4144:0.5107:0.0:0.0749	.	.	.	.	X	362	.	ENSP00000368876:Q362X	Q	+	1	0	FAM179A	29093563	1.000000	0.71417	0.998000	0.56505	0.392000	0.30506	0.878000	0.28126	0.146000	0.19002	-0.229000	0.12294	CAG		0.537	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		4	101	0	0	0	1	0	4	101					T	29240059	C	T	29240059	4	4	402	1	0	0	0	0	0	1	0	0	5505	711	25	2	1114	2	FAM179A	2	29240059	Nonsense_Mutation	SNP	C	TCGA-ET-A4KQ-01A-12D-A257-08		29240059	213959314	2	8269											
DHX57	90957	broad.mit.edu	37	chr2	39089419	39089419	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgtccagctggccagtacCgctcatcgttacagcaatca	8	15	2	0	rs145119195		TCGA-ET-A4KQ-01A-12D-A257-08	TCGA-ET-A4KQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e	096007b2-e058-4848-8a88-4fb06e30b2d5	g.chr2:39089419C>A	ENST00000295373.6	-	4	566	c.440G>T	c.(439-441)cGg>cTg	p.R147L	AC018693.6_ENST00000442829.1_RNA|DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	147							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TGGCCAGTACCGCTCATCGTT	0.463																																					Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(439-441)cGg>cTg		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							98	85	89					2																	39089419		2203	4300	6503	SO:0001583	missense	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39089419C>A	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.440G>T	2.37:g.39089419C>A	ENSP00000295373:p.Arg147Leu					AC018693.6_ENST00000442829.1_RNA|DHX57_ENST00000479345.2_5'UTR	p.R147L	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			4	566	-		all_hematologic(82;0.248)	147					A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	c.440G>T	CCDS1800.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884106	0.51908	.	.	ENSG00000163214	ENST00000295373;ENST00000355320;ENST00000417233	T	0.02737	4.18	5.37	2.94	0.34122	.	0.270194	0.26594	N	0.023512	T	0.01661	0.0053	N	0.08118	0	0.33097	D	0.538737	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.37103	-0.9720	10	0.33141	T	0.24	.	7.3334	0.26596	0.0:0.1698:0.0:0.8302	.	147;147	Q6P158-2;Q6P158	.;DHX57_HUMAN	L	147;45;45	ENSP00000295373:R147L	ENSP00000295373:R147L	R	-	2	0	DHX57	38942923	1.000000	0.71417	0.983000	0.44433	0.993000	0.82548	1.972000	0.40540	0.396000	0.25283	0.561000	0.74099	CGG		0.463	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		3	30	1	0	0.115264	1	0.115264	3	30					A	39089419	C	A	39089419	3	1	402	1	0	0	0	0	1	0	0	0	4513	652	23	4	3804	4	DHX57	2	39089419	Missense_Mutation	SNP	C	TCGA-ET-A4KQ-01A-12D-A257-08	9849360	39089419	204109954	3	8270											
AGFG1	3267	broad.mit.edu	37	chr2	228399585	228399585	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcagggaagtggctttgGgaccacaggtaaagctcctg	14	8	1	1			TCGA-ET-A4KQ-01A-12D-A257-08	TCGA-ET-A4KQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e	096007b2-e058-4848-8a88-4fb06e30b2d5	g.chr2:228399585G>A	ENST00000310078.8	+	8	1309	c.1049G>A	c.(1048-1050)gGg>gAg	p.G350E	AGFG1_ENST00000409171.1_Missense_Mutation_p.G350E|AGFG1_ENST00000409315.1_Intron|AGFG1_ENST00000409979.2_Missense_Mutation_p.G374E|AGFG1_ENST00000373671.3_Missense_Mutation_p.G310E	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	350					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of ARF GTPase activity (GO:0032312)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)	ARF GTPase activator activity (GO:0008060)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						AGTGGCTTTGGGACCACAGGT	0.438																																						ENST00000310078.7																			0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						c.(1048-1050)gGg>gAg		ArfGAP with FG repeats 1							155	146	149					2																	228399585		2203	4300	6503	SO:0001583	missense	3267				cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr2:228399585G>A		CCDS2467.1, CCDS46533.1, CCDS46534.1, CCDS46535.1	2q36	2009-11-30	2008-09-22	2008-09-22	ENSG00000173744	ENSG00000173744		"ADP-ribosylation factor GTPase activating proteins"	5175	protein-coding gene	gene with protein product		600862	"HIV-1 Rev binding protein"	HRB		7637788	Standard	NM_004504		Approved	RIP, RAB	uc002vpd.2	P52594	OTTHUMG00000133186	ENST00000310078.8:c.1049G>A	2.37:g.228399585G>A	ENSP00000312059:p.Gly350Glu					AGFG1_ENST00000409979.2_Missense_Mutation_p.G374E|AGFG1_ENST00000409315.1_Intron|AGFG1_ENST00000373671.3_Missense_Mutation_p.G310E|AGFG1_ENST00000409171.1_Missense_Mutation_p.G350E	p.G350E	NM_001135188.1|NM_004504.4	NP_001128660.1|NP_004495.2	P52594	AGFG1_HUMAN			8	1309	+			350					B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Missense_Mutation	SNP	ENST00000310078.8	37	c.1049G>A	CCDS2467.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.048694	0.55110	.	.	ENSG00000173744	ENST00000409979;ENST00000542592;ENST00000310078;ENST00000373671;ENST00000409171	T;T;T;T	0.26957	1.78;1.7;1.86;1.7	5.59	5.59	0.84812	.	0.140035	0.64402	D	0.000004	T	0.20129	0.0484	N	0.14661	0.345	0.32205	N	0.577267	P;B;P;P	0.47253	0.892;0.16;0.597;0.614	P;B;B;B	0.46629	0.522;0.082;0.255;0.272	T	0.09335	-1.0679	10	0.41790	T	0.15	.	12.1334	0.53957	0.0786:0.0:0.9214:0.0	.	310;350;374;350	P52594-2;P52594-3;E9PHX7;P52594	.;.;.;AGFG1_HUMAN	E	374;359;350;310;350	ENSP00000387282:G374E;ENSP00000312059:G350E;ENSP00000362775:G310E;ENSP00000387218:G350E	ENSP00000312059:G350E	G	+	2	0	AGFG1	228107829	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.496000	0.73670	2.640000	0.89533	0.655000	0.94253	GGG		0.438	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256895.2	NM_004504		14	46	0	0	0	1	0	14	46					A	228399585	G	A	228399585	3	1	402	1	0	0	0	0	1	0	0	0	380	1232	43	2	1155	2	AGFG1	2	228399585	Missense_Mutation	SNP	G	TCGA-ET-A4KQ-01A-12D-A257-08	189310166	228399585	14799788	4	8271											
CDH6	1004	broad.mit.edu	37	chr5	31267621	31267621	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgctgctcttttgggtggGccagccctacccaactctct	9	15	2	0			TCGA-ET-A4KQ-01A-12D-A257-08	TCGA-ET-A4KQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e	096007b2-e058-4848-8a88-4fb06e30b2d5	g.chr5:31267621G>A	ENST00000265071.2	+	2	306	c.41G>A	c.(40-42)gGc>gAc	p.G14D	CDH6_ENST00000514738.1_5'UTR|RP11-152K4.2_ENST00000523584.1_RNA	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	14					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)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTTTGGGTGGGCCAGCCCTAC	0.517																																						ENST00000265071.2																			0				NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(40-42)gGc>gAc		cadherin 6, type 2, K-cadherin (fetal kidney)							98	92	94					5																	31267621		2203	4300	6503	SO:0001583	missense	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31267621G>A	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"Cadherins / Major cadherins"	1765	protein-coding gene	gene with protein product	"K-Cadherin"	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.41G>A	5.37:g.31267621G>A	ENSP00000265071:p.Gly14Asp					CDH6_ENST00000514738.1_5'UTR|RP11-152K4.2_ENST00000523584.1_RNA	p.G14D	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN			2	306	+			14					A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	c.41G>A	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.815789	0.32145	.	.	ENSG00000113361	ENST00000265071	T	0.56941	0.43	5.8	3.97	0.46021	.	0.397172	0.29602	N	0.011694	T	0.42108	0.1188	N	0.24115	0.695	0.09310	N	0.999991	B;P	0.36392	0.059;0.551	B;B	0.41946	0.052;0.371	T	0.31806	-0.9930	10	0.36615	T	0.2	.	11.3422	0.49539	0.0659:0.0:0.8081:0.126	.	14;14	P55285;P55285-2	CADH6_HUMAN;.	D	14	ENSP00000265071:G14D	ENSP00000265071:G14D	G	+	2	0	CDH6	31303378	0.915000	0.31059	0.296000	0.24974	0.931000	0.56810	3.306000	0.51881	1.465000	0.48006	0.655000	0.94253	GGC		0.517	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		4	105	0	0	0	1	0	4	105					A	31267621	G	A	31267621	3	1	402	1	0	0	0	0	1	0	0	0	3114	1203	42	2	43	2	CDH6	5	31267621	Missense_Mutation	SNP	G	TCGA-ET-A4KQ-01A-12D-A257-08		31267621	149647639	5	8272											
STK19	8859	broad.mit.edu	37	chr6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A													attcagcgacagtggcgggcINSaaacccctcccggggcgggg							TCGA-ET-A4KQ-01A-12D-A257-08	TCGA-ET-A4KQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e	096007b2-e058-4848-8a88-4fb06e30b2d5	g.chr6:31939829_31939830insA	ENST00000375333.2	+	1	109_110	c.56_57insA	c.(55-60)gcaaacfs	p.N20fs	DXO_ENST00000375356.3_5'Flank|STK19_ENST00000375331.2_Frame_Shift_Ins_p.N20fs|DXO_ENST00000337523.5_5'UTR|DXO_ENST00000478221.1_5'UTR|DXO_ENST00000375349.3_5'UTR	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	20					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(55-57)gaafs		serine/threonine kinase 19																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939829_31939830insA	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.59dupA	6.37:g.31939832_31939832dupA	ENSP00000364482:p.Asn20fs					DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs|DOM3Z_ENST00000337523.5_5'UTR	p.E19fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	222_223	+			19					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.56_57insA	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			34	152						34	152	---	---	---	---	A	31939830	-	A	31939829	7	5	402	1	0	1	1	0	0	0	0	0	15291	710	25	0	58	0	STK19	6	31939829	Frame_Shift_Ins	INS	-	TCGA-ET-A4KQ-01A-12D-A257-08		31939829	139175238	6	8273											
BRAF	673	broad.mit.edu	37	chr7	140453134	140453134	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacccactccatcgagattTcactgtagctagaccaaaat	7	12	1	2	rs397516897|rs121913364|rs121913226|rs121913377		TCGA-ET-A4KQ-01A-12D-A257-08	TCGA-ET-A4KQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e	096007b2-e058-4848-8a88-4fb06e30b2d5	g.chr7:140453134T>C	ENST00000288602.6	-	15	1861	c.1801A>G	c.(1801-1803)Aaa>Gaa	p.K601E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	601	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		K -> E (in CRC). {ECO:0000269|PubMed:12198537}.|K -> Q (in CFC1). {ECO:0000269|PubMed:19206169}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.K601E(40)|p.V600_K601>E(12)|p.T599_R603>I(2)|p.K601del(1)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	CATCGAGATTTCACTGTAGCT	0.368		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6		61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	58	Substitution - Missense(40)|Complex - deletion inframe(17)|Deletion - In frame(1)	p.K601E(40)|p.V600_K601>E(12)|p.T599_R603>I(2)|p.K601del(1)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)	thyroid(30)|skin(15)|large_intestine(5)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|endometrium(1)|lung(1)|NS(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1801-1803)Aaa>Gaa		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						111	103	106					7																	140453134		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453134T>C	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1801A>G	7.37:g.140453134T>C	ENSP00000288602:p.Lys601Glu						p.K601E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1861	-	Melanoma(164;0.00956)		601		K -> E (in colorectal cancer).|K -> Q (in CFC syndrome).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1801A>G	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.8|23.8	4.454487|4.454487	0.84209|0.84209	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.82711|.	-1.64|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.54464|.	0.1860|.	N|N	0.25380|0.25380	0.74|0.74	0.80722|0.80722	D|D	1|1	P|.	0.42584|.	0.784|.	P|.	0.49922|.	0.626|.	T|.	0.51108|.	-0.8747|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	601|.	P15056|.	BRAF_HUMAN|.	E|W	601|208	ENSP00000288602:K601E|.	ENSP00000288602:K601E|.	K|X	-|-	1|3	0|0	BRAF|BRAF	140099603|140099603	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.921000|7.921000	0.87530|0.87530	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	AAA|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		20	42	0	0	0	1	0	20	42					C	140453134	T	C	140453134	3	2	402	1	0	0	0	0	1	0	0	0	1496	1792	62	3	515	3	BRAF	7	140453134	Missense_Mutation	SNP	T	TCGA-ET-A4KQ-01A-12D-A257-08		140453134	18685529	7	8274											
TG	7038	broad.mit.edu	37	chr8	133899280	133899280	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgtgggcagctttggctttGaaattaacctacaagagaac	10	8	0	2			TCGA-ET-A4KQ-01A-12D-A257-08	TCGA-ET-A4KQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e	096007b2-e058-4848-8a88-4fb06e30b2d5	g.chr8:133899280G>A	ENST00000220616.4	+	9	1703	c.1663G>A	c.(1663-1665)Gaa>Aaa	p.E555K	TG_ENST00000377869.1_Missense_Mutation_p.E555K	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	555					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTTTGGCTTTGAAATTAACCT	0.443																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(1663-1665)Gaa>Aaa		thyroglobulin							82	80	81					8																	133899280		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133899280G>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.1663G>A	8.37:g.133899280G>A	ENSP00000220616:p.Glu555Lys					TG_ENST00000377869.1_Missense_Mutation_p.E555K	p.E555K	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	9	1703	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	555					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.1663G>A	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	2.497	-0.316041	0.05422	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	T;T	0.62232	0.04;0.04	5.21	-3.52	0.04682	.	1.097120	0.06867	N	0.800155	T	0.41511	0.1162	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27297	-1.0078	10	0.09084	T	0.74	.	6.6309	0.22857	0.4752:0.3825:0.1423:0.0	.	555	P01266	THYG_HUMAN	K	555	ENSP00000367100:E555K;ENSP00000220616:E555K	ENSP00000220616:E555K	E	+	1	0	TG	133968462	0.004000	0.15560	0.004000	0.12327	0.719000	0.41307	0.097000	0.15168	-0.530000	0.06349	-0.181000	0.13052	GAA		0.443	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		17	40	0	0	0	1	0	17	40					A	133899280	G	A	133899280	3	1	402	1	0	0	0	0	1	0	0	0	15810	1291	45	2	1697	2	TG	8	133899280	Missense_Mutation	SNP	G	TCGA-ET-A4KQ-01A-12D-A257-08		133899280	12464742	8	8275											
MEN1	4221	broad.mit.edu	37	chr11	64577307	64577307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggatctgggcggtgaagCgggcatagagggcggcgatg	20	8	1	2	rs375628323		TCGA-ET-A4KQ-01A-12D-A257-08	TCGA-ET-A4KQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e	096007b2-e058-4848-8a88-4fb06e30b2d5	g.chr11:64577307C>T	ENST00000337652.1	-	2	778	c.275G>A	c.(274-276)cGc>cAc	p.R92H	MEN1_ENST00000377313.1_Missense_Mutation_p.R92H|MEN1_ENST00000443283.1_Missense_Mutation_p.R92H|MEN1_ENST00000377316.2_Missense_Mutation_p.R92H|MEN1_ENST00000394376.1_Missense_Mutation_p.R92H|MEN1_ENST00000315422.4_Missense_Mutation_p.R92H|MEN1_ENST00000312049.6_Missense_Mutation_p.R92H|MEN1_ENST00000377321.1_Missense_Mutation_p.R92H|MEN1_ENST00000377326.3_Missense_Mutation_p.R92H|MEN1_ENST00000394374.2_Missense_Mutation_p.R92H	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	92			Missing (in MEN1). {ECO:0000269|PubMed:17555499}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|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 activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.R92fs*26(4)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						GGCGGTGAAGCGGGCATAGAG	0.662			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	ENST00000337652.1			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	"D, Mis, N, F, S"	multiple endocrine neoplasia type 1 gene			E		"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"	"parathyroid tumors, Pancreatic neuroendocrine tumors"		4	Deletion - Frameshift(4)	p.R92fs*26(4)	parathyroid(4)	NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						c.(274-276)cGc>cAc		multiple endocrine neoplasia I		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4402		0,0,2201	32	38	36		275,275,275,275,275,275,275	4.1	1.0	11		36	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense,missense,missense,missense,missense,missense	MEN1	NM_000244.3,NM_130799.2,NM_130800.2,NM_130801.2,NM_130802.2,NM_130803.2,NM_130804.2	29,29,29,29,29,29,29	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	92/616,92/611,92/616,92/616,92/616,92/616,92/616	64577307	1,12995	2201	4297	6498	SO:0001583	missense	0	Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64577307C>T	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"menin"	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.275G>A	11.37:g.64577307C>T	ENSP00000337088:p.Arg92His					MEN1_ENST00000394376.1_Missense_Mutation_p.R92H|MEN1_ENST00000377316.2_Missense_Mutation_p.R92H|MEN1_ENST00000377321.1_Missense_Mutation_p.R92H|MEN1_ENST00000394374.2_Missense_Mutation_p.R92H|MEN1_ENST00000312049.6_Missense_Mutation_p.R92H|MEN1_ENST00000377326.3_Missense_Mutation_p.R92H|MEN1_ENST00000377313.1_Missense_Mutation_p.R92H|MEN1_ENST00000443283.1_Missense_Mutation_p.R92H|MEN1_ENST00000315422.4_Missense_Mutation_p.R92H	p.R92H	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN			2	778	-			92		Missing (in MEN1).			A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000337652.1	37	c.275G>A	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.618756	0.66787	0.0	1.16E-4	ENSG00000133895	ENST00000377316;ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313;ENST00000440873;ENST00000450708;ENST00000413626;ENST00000429702;ENST00000424912	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.99494	-6.01;-6.01;-6.01;-6.01;-6.01;-6.01;-6.01;-6.01;-6.01;-6.01;-6.01;-6.01;-6.01;-6.01;-6.01	5.02	4.11	0.48088	.	0.000000	0.85682	D	0.000000	D	0.99029	0.9668	L	0.44542	1.39	0.58432	D	0.999996	D;B;D	0.89917	1.0;0.002;0.999	D;B;D	0.68765	0.933;0.003;0.96	D	0.99406	1.0929	10	0.87932	D	0	-24.2821	11.7801	0.52008	0.0:0.9137:0.0:0.0863	.	92;92;92	O00255-2;O00255-3;O00255	.;.;MEN1_HUMAN	H	92	ENSP00000366533:R92H;ENSP00000366538:R92H;ENSP00000366543:R92H;ENSP00000308975:R92H;ENSP00000323747:R92H;ENSP00000337088:R92H;ENSP00000377901:R92H;ENSP00000377899:R92H;ENSP00000396940:R92H;ENSP00000366530:R92H;ENSP00000413944:R92H;ENSP00000394933:R92H;ENSP00000411218:R92H;ENSP00000402752:R92H;ENSP00000388016:R92H	ENSP00000308975:R92H	R	-	2	0	MEN1	64333883	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	7.047000	0.76599	1.260000	0.44134	-0.254000	0.11334	CGC		0.662	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			3	29	0	0	0	1	0	3	29					T	64577307	C	T	64577307	3	4	402	1	0	0	0	0	1	0	0	0	9472	768	27	1	1608	1	MEN1	11	64577307	Missense_Mutation	SNP	C	TCGA-ET-A4KQ-01A-12D-A257-08		64577307	70429209	9	8276											
APAF1	317	broad.mit.edu	37	chr12	99119217	99119217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagttttgatctccttttgCcacttcatgaattgaggggc	11	8	2	3			TCGA-ET-A4KQ-01A-12D-A257-08	TCGA-ET-A4KQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e	096007b2-e058-4848-8a88-4fb06e30b2d5	g.chr12:99119217C>T	ENST00000551964.1	+	25	4091	c.3355C>T	c.(3355-3357)Cca>Tca	p.P1119S	APAF1_ENST00000357310.1_Missense_Mutation_p.P1076S|APAF1_ENST00000359972.2_Missense_Mutation_p.P1065S|APAF1_ENST00000339433.3_Intron|APAF1_ENST00000547045.1_Missense_Mutation_p.P1076S|APAF1_ENST00000550527.1_Missense_Mutation_p.P1108S|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000549007.1_Intron	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	1119					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TCTCCTTTTGCCACTTCATGA	0.468																																						ENST00000357310.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42						c.(3226-3228)Cca>Tca		apoptotic peptidase activating factor 1	Adenosine triphosphate(DB00171)						119	105	109					12																	99119217		2203	4300	6503	SO:0001583	missense	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99119217C>T	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"WD repeat domain containing"	576	protein-coding gene	gene with protein product		602233	"apoptotic protease activating factor", "apoptotic peptidase activating factor"			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.3355C>T	12.37:g.99119217C>T	ENSP00000448165:p.Pro1119Ser					APAF1_ENST00000359972.2_Missense_Mutation_p.P1065S|APAF1_ENST00000547045.1_Missense_Mutation_p.P1076S|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000550527.1_Missense_Mutation_p.P1108S|APAF1_ENST00000549007.1_Intron|APAF1_ENST00000339433.3_Intron|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000551964.1_Missense_Mutation_p.P1119S	p.P1076S	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN			24	3803	+			1119					B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	37	c.3226C>T	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	C	9.820	1.185614	0.21870	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000550527;ENST00000547045	T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13	6.06	3.15	0.36227	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.466449	0.25695	N	0.028908	T	0.47857	0.1468	L	0.41824	1.3	0.34209	D	0.674017	B;B;B;B	0.25609	0.12;0.13;0.064;0.002	B;B;B;B	0.32624	0.149;0.098;0.026;0.001	T	0.56583	-0.7955	10	0.52906	T	0.07	-0.9219	7.6614	0.28404	0.1059:0.4936:0.3363:0.0643	.	1076;1065;1119;1108	O14727-4;O14727-3;O14727;O14727-2	.;.;APAF_HUMAN;.	S	1119;1065;1076;1108;1076	ENSP00000448165:P1119S;ENSP00000353059:P1065S;ENSP00000349862:P1076S;ENSP00000448449:P1108S;ENSP00000449791:P1076S	ENSP00000349862:P1076S	P	+	1	0	APAF1	97643348	0.397000	0.25270	0.579000	0.28588	0.006000	0.05464	1.055000	0.30467	0.844000	0.35094	-0.176000	0.13171	CCA		0.468	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		4	61	0	0	0	1	0	4	61					T	99119217	C	T	99119217	3	4	402	1	0	0	0	0	1	0	0	0	755	739	26	2	3449	2	APAF1	12	99119217	Missense_Mutation	SNP	C	TCGA-ET-A4KQ-01A-12D-A257-08		99119217	34732678	10	8277											
HECTD1	25831	broad.mit.edu	37	chr14	31581716	31581716	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggttaattgttcacaccagtCtggcagagccccacttgcca	9	13	2	1			TCGA-ET-A4KQ-01A-12D-A257-08	TCGA-ET-A4KQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e	096007b2-e058-4848-8a88-4fb06e30b2d5	g.chr14:31581716C>A	ENST00000399332.1	-	35	6672	c.6184G>T	c.(6184-6186)Gac>Tac	p.D2062Y	HECTD1_ENST00000553700.1_Missense_Mutation_p.D2062Y	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2062	K-box.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TCACACCAGTCTGGCAGAGCC	0.403																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(6184-6186)Gac>Tac		HECT domain containing E3 ubiquitin protein ligase 1							64	61	62					14																	31581716		1890	4108	5998	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31581716C>A	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.6184G>T	14.37:g.31581716C>A	ENSP00000382269:p.Asp2062Tyr					HECTD1_ENST00000553700.1_Missense_Mutation_p.D2062Y	p.D2062Y	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	35	6672	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		2062			K-box.		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.6184G>T	CCDS41939.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.073036|5.073036	0.93950|0.93950	.|.	.|.	ENSG00000092148|ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332|ENST00000554882	T;T|.	0.09817|.	2.94;2.94|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.74642|0.74642	0.3743|0.3743	M|M	0.62266|0.62266	1.93|1.93	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.80764|.	0.994|.	T|T	0.71178|0.71178	-0.4669|-0.4669	10|5	0.72032|.	D|.	0.01|.	-11.2134|-11.2134	19.9267|19.9267	0.97106|0.97106	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2062|.	Q9ULT8|.	HECD1_HUMAN|.	Y|H	2062;2064;2062|427	ENSP00000450697:D2062Y;ENSP00000382269:D2062Y|.	ENSP00000261312:D2064Y|.	D|Q	-|-	1|3	0|2	HECTD1|HECTD1	30651467|30651467	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	7.384000|7.384000	0.79751|0.79751	2.706000|2.706000	0.92434|0.92434	0.563000|0.563000	0.77884|0.77884	GAC|CAG		0.403	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			8	22	1	0	0.000274275	1	0.000291417	8	22					A	31581716	C	A	31581716	3	1	402	1	0	0	0	0	1	0	0	0	7039	913	32	4	1684	4	HECTD1	14	31581716	Missense_Mutation	SNP	C	TCGA-ET-A4KQ-01A-12D-A257-08		31581716	75767824	11	8278											
FBXL20	84961	broad.mit.edu	37	chr17	37455265	37455265	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	taatgcattgtctcccactcCaagacatccacgaagactta	5	13	1	2			TCGA-ET-A4KQ-01A-12D-A257-08	TCGA-ET-A4KQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e	096007b2-e058-4848-8a88-4fb06e30b2d5	g.chr17:37455265C>G	ENST00000264658.6	-	5	567	c.307G>C	c.(307-309)Gga>Cga	p.G103R	AC005288.1_ENST00000584584.1_RNA|FBXL20_ENST00000394294.3_Missense_Mutation_p.G103R|FBXL20_ENST00000583610.1_Missense_Mutation_p.G103R|FBXL20_ENST00000577399.1_Missense_Mutation_p.G105R	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	103					behavioral fear response (GO:0001662)	cytoplasm (GO:0005737)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			TCTCCCACTCCAAGACATCCA	0.403																																						ENST00000264658.6																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(307-309)Gga>Cga		F-box and leucine-rich repeat protein 20							134	125	128					17																	37455265		2203	4300	6503	SO:0001583	missense	84961					cytoplasm		g.chr17:37455265C>G	BC007557	CCDS32640.1, CCDS54116.1	17q21.2	2011-06-09				ENSG00000108306		"F-boxes / Leucine-rich repeats"	24679	protein-coding gene	gene with protein product		609086				12477932	Standard	NM_032875		Approved	MGC15482, Fbl2, Fbl20	uc002hrt.3	Q96IG2		ENST00000264658.6:c.307G>C	17.37:g.37455265C>G	ENSP00000264658:p.Gly103Arg					FBXL20_ENST00000577399.1_Missense_Mutation_p.G105R|FBXL20_ENST00000583610.1_Missense_Mutation_p.G103R|FBXL20_ENST00000394294.3_Missense_Mutation_p.G103R	p.G103R	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	LUAD - Lung adenocarcinoma(14;0.146)		5	567	-			103					A8K729|Q38J52	Missense_Mutation	SNP	ENST00000264658.6	37	c.307G>C	CCDS32640.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.927898	0.73327	.	.	ENSG00000108306	ENST00000264658;ENST00000394294	T;T	0.52526	4.72;0.66	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.45296	0.1335	N	0.22421	0.69	0.80722	D	1	P;P	0.44659	0.8;0.84	P;B	0.49085	0.6;0.288	T	0.10941	-1.0608	10	0.13853	T	0.58	.	20.1554	0.98111	0.0:1.0:0.0:0.0	.	103;103	Q96IG2-2;Q96IG2	.;FXL20_HUMAN	R	103	ENSP00000264658:G103R;ENSP00000377832:G103R	ENSP00000264658:G103R	G	-	1	0	FBXL20	34708791	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.554000	0.67294	2.838000	0.97847	0.591000	0.81541	GGA		0.403	FBXL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444315.2	NM_032875		18	59	0	0	0	1	0	18	59					G	37455265	C	G	37455265	3	3	402	1	0	0	0	0	1	0	0	0	5717	603	21	4	1047	4	FBXL20	17	37455265	Missense_Mutation	SNP	C	TCGA-ET-A4KQ-01A-12D-A257-08		37455265	43739945	12	8279											
VEZF1	7716	broad.mit.edu	37	chr17	56056587	56056589	+	In_Frame_Del	DEL	TGT	TGT	-													tccctggccagcttgtcacaTgttgttgttgttgttgttgc							TCGA-ET-A4KQ-01A-12D-A257-08	TCGA-ET-A4KQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e	096007b2-e058-4848-8a88-4fb06e30b2d5	g.chr17:56056587_56056589delTGT	ENST00000581208.1	-	5	1102_1104	c.1062_1064delACA	c.(1060-1065)caacat>cat	p.Q354del	VEZF1_ENST00000584396.1_In_Frame_Del_p.Q345del	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	354	Poly-Gln.			Missing (in Ref. 1; BAA05663). {ECO:0000305}.	angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GCTTGTCACAtgttgttgttgtt	0.473																																						ENST00000584396.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						c.(1033-1038)cat>ca		vascular endothelial zinc finger 1				460,95,3709		10,1,439,6,82,1594						2.0	0.9			207	126,113,8013		0,1,125,12,88,3900	no	codingComplex	VEZF1	NM_007146.2		10,2,564,18,170,5494	A1A1,A1A2,A1R,A2A2,A2R,RR		2.8963,13.0159,6.3439				586,208,11722				SO:0001651	inframe_deletion	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56056587_56056589delTGT	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"Zinc fingers, C2H2-type"	12949	protein-coding gene	gene with protein product		606747	"zinc finger protein 161"	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.1062_1064delACA	17.37:g.56056596_56056598delTGT	ENSP00000462337:p.Gln354del					VEZF1_ENST00000581208.1_In_Frame_Del_p.QH354del	p.QH345del			Q14119	VEZF1_HUMAN			5	1123_1125	-			354			Poly-Gln.			In_Frame_Del	DEL	ENST00000581208.1	37	c.1035_1037delACA	CCDS32687.1																																																																																				0.473	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			7	195						7	195	---	---	---	---	-	56056589	TGT	-	56056587	7	5	402	1	0	1	0	1	0	0	0	0	17152	1464	51	0	509	0	VEZF1	17	56056587	In_Frame_Del	DEL	TGT	TCGA-ET-A4KQ-01A-12D-A257-08	18601322	56056587	25138623	13	8280											
RFPL3	10738	broad.mit.edu	37	chr22	32754250	32754250	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	accgtctgcctcaagtgcatCaattcgctgcagaaggagcc	10	13	3	1	rs376474772	byFrequency	TCGA-ET-A4KQ-01A-12D-A257-08	TCGA-ET-A4KQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e	096007b2-e058-4848-8a88-4fb06e30b2d5	g.chr22:32754250C>T	ENST00000249007.4	+	1	397	c.192C>T	c.(190-192)atC>atT	p.I64I	RFPL3_ENST00000382088.3_Silent_p.I35I|RFPL3_ENST00000397468.1_Silent_p.I35I|RFPL3S_ENST00000461833.1_5'Flank	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	64							zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						TCAAGTGCATCAATTCGCTGC	0.532													c|||	6	0.00119808	0.0038	0.0014	5008	,	,		19944	0		0	False		,,,				2504	0					ENST00000249007.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						c.(190-192)atC>atT		ret finger protein-like 3							122	115	117					22																	32754250		2203	4300	6503	SO:0001819	synonymous_variant	10738						zinc ion binding	g.chr22:32754250C>T	AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.192C>T	22.37:g.32754250C>T						RFPL3_ENST00000397468.1_Silent_p.I35I|RFPL3_ENST00000382088.3_Silent_p.I35I	p.I64I	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN			1	397	+			64					A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Silent	SNP	ENST00000249007.4	37	c.192C>T	CCDS43011.1																																																																																				0.532	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604		4	84	0	0	0	1	0	4	84					T	32754250	C	T	32754250	2	4	402	1	0	0	0	0	0	0	0	1	13255	816	29	2		2	RFPL3	22	32754250	Silent	SNP	C	TCGA-ET-A4KQ-01A-12D-A257-08		32754250	18550316	14	8281											
RAB39B	116442	broad.mit.edu	37	chrX	154490502	154490502	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgagttcctgtagtaggcGcgagtgatggatctaaaaca	12	7	1	2			TCGA-ET-A4KQ-01A-12D-A257-08	TCGA-ET-A4KQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e	096007b2-e058-4848-8a88-4fb06e30b2d5	g.chrX:154490502G>A	ENST00000369454.3	-	2	528	c.228C>T	c.(226-228)cgC>cgT	p.R76R		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	76					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|synapse organization (GO:0050808)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)	p.R76R(1)		breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGTAGTAGGCGCGAGTGATGG	0.428																																						ENST00000369454.3																			1	Substitution - coding silent(1)	p.R76R(1)	cervix(1)	breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19						c.(226-228)cgC>cgT		RAB39B, member RAS oncogene family							117	118	118					X																	154490502		2203	4300	6503	SO:0001819	synonymous_variant	116442				protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding	g.chrX:154490502G>A	AY052478	CCDS14766.1	Xq28	2014-01-31			ENSG00000155961	ENSG00000155961		"RAB, member RAS oncogene"	16499	protein-coding gene	gene with protein product		300774	"mental retardation, X-linked 72"	MRX72		12438742, 20159109	Standard	NM_171998		Approved		uc004fne.3	Q96DA2	OTTHUMG00000022659	ENST00000369454.3:c.228C>T	X.37:g.154490502G>A							p.R76R	NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN			2	528	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		76					Q5JT79|Q8NEX3	Silent	SNP	ENST00000369454.3	37	c.228C>T	CCDS14766.1																																																																																				0.428	RAB39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058792.1	NM_171998		56	140	0	0	0	1	0	56	140					A	154490502	G	A	154490502	2	1	402	1	0	0	0	0	0	0	0	1	12930	1074	38	1		1	RAB39B	23	154490502	Silent	SNP	G	TCGA-ET-A4KQ-01A-12D-A257-08		154490502	780058	15	8282											
RHOQ	23433	broad.mit.edu	37	chr2	46803383	46803383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtaccctttttattaatagGaactcaggtatgtctggttt	8	6	2	0			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr2:46803383G>A	ENST00000238738.4	+	3	678	c.359G>A	c.(358-360)gGa>gAa	p.G120E	RP11-417F21.1_ENST00000506009.2_RNA|RHOQ_ENST00000465198.1_3'UTR	NM_012249.3	NP_036381.2	P17081	RHOQ_HUMAN	ras homolog family member Q	120					cellular response to insulin stimulus (GO:0032869)|cortical actin cytoskeleton organization (GO:0030866)|GTP catabolic process (GO:0006184)|insulin receptor signaling pathway (GO:0008286)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin filament (GO:0005884)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	GBD domain binding (GO:0032427)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|profilin binding (GO:0005522)			skin(2)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TTATTAATAGGAACTCAGGTA	0.418																																						ENST00000238738.4																			0				skin(2)	2						c.(358-360)gGa>gAa		ras homolog family member Q							64	63	63					2																	46803383		2203	4300	6503	SO:0001583	missense	23433				cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	actin filament|cytosol|plasma membrane	GBD domain binding|GTP binding|GTPase activity|profilin binding	g.chr2:46803383G>A	M31470	CCDS33191.1	2p21	2012-02-27	2012-02-27	2004-03-24	ENSG00000119729	ENSG00000119729			17736	protein-coding gene	gene with protein product		605857	"RAS-like, family 7, member A", "ras homolog gene family, member Q"	RASL7A, ARHQ		2108320	Standard	NM_012249		Approved	TC10	uc002rva.3	P17081	OTTHUMG00000150653	ENST00000238738.4:c.359G>A	2.37:g.46803383G>A	ENSP00000238738:p.Gly120Glu					RP11-417F21.1_ENST00000506009.2_RNA|RHOQ_ENST00000465198.1_3'UTR	p.G120E	NM_012249.3	NP_036381.2	P17081	RHOQ_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		3	678	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	120					D6W5A6|Q0VGN1|Q52LS8|Q53SJ1|Q6NS39|Q6P146|Q7Z480	Missense_Mutation	SNP	ENST00000238738.4	37	c.359G>A	CCDS33191.1	.	.	.	.	.	.	.	.	.	.	G	34	5.304873	0.95601	.	.	ENSG00000119729	ENST00000238738;ENST00000482449	D;D	0.85773	-2.03;-2.03	5.53	5.53	0.82687	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.96880	0.8981	H	0.99955	5.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98463	1.0597	10	0.87932	D	0	.	19.6556	0.95837	0.0:0.0:1.0:0.0	.	120	P17081	RHOQ_HUMAN	E	120;41	ENSP00000238738:G120E;ENSP00000428006:G41E	ENSP00000238738:G120E	G	+	2	0	RHOQ	46656887	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.615000	0.98356	2.882000	0.98803	0.655000	0.94253	GGA		0.418	RHOQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319409.1	NM_012249		12	18	0	0	0	0.080935	0	12	18					A	46803383	G	A	46803383	3	1	403	1	0	0	0	0	1	0	0	0	13342	1174	41	2	369	2	RHOQ	2	46803383	Missense_Mutation	SNP	G	TCGA-FE-A22Z-01A-11D-A17V-08		46803383	196395990	1	8283											
RGPD4	285190	broad.mit.edu	37	chr2	108477236	108477236	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttagggcagtggtcttaaTtctttttatgatcaacgaga	9	5	3	2	rs189216330	byFrequency	TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr2:108477236T>G	ENST00000408999.3	+	13	1850	c.1773T>G	c.(1771-1773)aaT>aaG	p.N591K	RGPD4_ENST00000354986.4_Missense_Mutation_p.N591K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	591					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GTGGTCTTAATTCTTTTTATG	0.323																																						ENST00000408999.3																			0				breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						c.(1771-1773)aaT>aaG		RANBP2-like and GRIP domain containing 4							170	122	137					2																	108477236		692	1588	2280	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108477236T>G	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.1773T>G	2.37:g.108477236T>G	ENSP00000386810:p.Asn591Lys					RGPD4_ENST00000354986.4_Missense_Mutation_p.N591K	p.N591K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN			13	1850	+			591					B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.1773T>G	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	3.853	-0.031503	0.07543	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.38077	1.16;1.16	2.6	2.6	0.31112	.	.	.	.	.	T	0.49115	0.1538	M	0.67953	2.075	0.29299	N	0.868807	D	0.71674	0.998	D	0.75484	0.986	T	0.41034	-0.9531	9	0.15952	T	0.53	-17.7891	5.7428	0.18104	0.0:0.1426:0.0:0.8574	.	591	Q7Z3J3	RGPD4_HUMAN	K	591;591;349	ENSP00000347081:N591K;ENSP00000386810:N591K	ENSP00000347081:N591K	N	+	3	2	RGPD4	107843668	1.000000	0.71417	1.000000	0.80357	0.550000	0.35303	2.606000	0.46291	1.068000	0.40764	0.128000	0.15822	AAT		0.323	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		38	65	0	0	0	0.104719	0	38	65					G	108477236	T	G	108477236	3	3	403	1	0	0	0	0	1	0	0	0	13288	1490	52	5	1823	5	RGPD4	2	108477236	Missense_Mutation	SNP	T	TCGA-FE-A22Z-01A-11D-A17V-08	61673853	108477236	134722137	2	8284											
SNX18	112574	broad.mit.edu	37	chr5	53814143	53814143	+	Frame_Shift_Del	DEL	C	C	-													cgcctccgagcaccttccagCcgcccggcgcgggcttcccg							TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr5:53814143delC	ENST00000326277.3	+	1	551	c.361delC	c.(361-363)ccgfs	p.P122fs	SNX18_ENST00000343017.6_Frame_Shift_Del_p.P122fs|SNX18_ENST00000381410.4_Frame_Shift_Del_p.P122fs	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18	122					cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				CACCTTCCAGCCGCCCGGCGC	0.746																																						ENST00000343017.6																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(361-363)cgfs		sorting nexin 18							2	3	2					5																	53814143		1004	2269	3273	SO:0001589	frameshift_variant	112574				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding	g.chr5:53814143delC	AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"Sorting nexins"	19245	protein-coding gene	gene with protein product			"sorting nexin associated golgi protein 1"	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000326277.3:c.361delC	5.37:g.53814143delC	ENSP00000317332:p.Pro122fs					SNX18_ENST00000326277.3_Frame_Shift_Del_p.P122fs|SNX18_ENST00000381410.4_Frame_Shift_Del_p.P122fs	p.P122fs	NM_001145427.1	NP_001138899.1	Q96RF0	SNX18_HUMAN			1	555	+		Lung NSC(810;3.46e-05)|Breast(144;0.102)	122					B4E2B3|H7BXX3|Q05BB3|Q0VG02	Frame_Shift_Del	DEL	ENST00000326277.3	37	c.361delC	CCDS3962.1																																																																																				0.746	SNX18-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214072.2			2	4						2	4	---	---	---	---	-	53814143	C	-	53814143	7	5	403	1	0	1	0	1	0	0	0	0	14889	739	26	0	363	0	SNX18	5	53814143	Frame_Shift_Del	DEL	C	TCGA-FE-A22Z-01A-11D-A17V-08		53814143	127101117	3	8285											
HLA-DMB	3109	broad.mit.edu	37	chr6	32906598	32906598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgccaagctattcagcaccCcaaattcgcaaggggccatc	8	15	1	0			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr6:32906598C>T	ENST00000418107.2	-	2	462	c.200G>A	c.(199-201)gGg>gAg	p.G67E	XXbac-BPG181M17.5_ENST00000429234.1_Missense_Mutation_p.G99E|HLA-DMB_ENST00000416244.2_Missense_Mutation_p.G67E|AL645941.1_ENST00000390777.1_RNA	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	67	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|MHC class II protein complex assembly (GO:0002399)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001190)|positive regulation of T cell proliferation (GO:0042102)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)			breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						ATTCAGCACCCCAAATTCGCA	0.517																																						ENST00000416244.2																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(199-201)gGg>gAg		major histocompatibility complex, class II, DM beta							117	119	118					6																	32906598		1511	2709	4220	SO:0001583	missense	3109				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex		g.chr6:32906598C>T		CCDS4760.1	6p21.3	2014-05-16			ENSG00000242574	ENSG00000242574		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4935	protein-coding gene	gene with protein product		142856				1922365	Standard	NM_002118		Approved	D6S221E, RING7	uc003ocl.2	P28068	OTTHUMG00000031176	ENST00000418107.2:c.200G>A	6.37:g.32906598C>T	ENSP00000398890:p.Gly67Glu					HLA-DMB_ENST00000418107.2_Missense_Mutation_p.G67E|XXbac-BPG181M17.5_ENST00000429234.1_Missense_Mutation_p.G99E	p.G67E			P28068	DMB_HUMAN			2	394	-			67			Beta-1.		O77936|Q13012|Q29751|Q58ZE2|Q5SNZ8|Q5STC4|Q9XRX2	Missense_Mutation	SNP	ENST00000418107.2	37	c.200G>A	CCDS4760.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409371	0.62399	.	.	ENSG00000242574;ENSG00000242574;ENSG00000242574;ENSG00000248993	ENST00000446948;ENST00000418107;ENST00000416244;ENST00000429234	T;T;T	0.38722	1.12;1.12;1.12	5.07	5.07	0.68467	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (2);MHC classes I/II-like antigen recognition protein (1);	0.237339	0.29178	N	0.012901	T	0.56202	0.1969	M	0.74258	2.255	0.43444	D	0.995629	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.992;1.0;1.0	T	0.56402	-0.7985	9	.	.	.	.	13.823	0.63333	0.0:1.0:0.0:0.0	.	67;67;76	E9PD01;P28068;Q59F83	.;DMB_HUMAN;.	E	67;67;67;99	ENSP00000398890:G67E;ENSP00000391010:G67E;ENSP00000412457:G99E	.	G	-	2	0	XXbac-BPG181M17.5;HLA-DMB	33014576	0.986000	0.35501	0.967000	0.41034	0.365000	0.29674	3.499000	0.53310	2.631000	0.89168	0.637000	0.83480	GGG		0.517	HLA-DMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076340.2	NM_002118		23	25	0	0	0	0.069288	0	23	25					T	32906598	C	T	32906598	3	4	403	1	0	0	0	0	1	0	0	0	7199	623	22	2	611	2	HLA-DMB	6	32906598	Missense_Mutation	SNP	C	TCGA-FE-A22Z-01A-11D-A17V-08		32906598	138208469	4	8286											
COL19A1	1310	broad.mit.edu	37	chr6	70866046	70866046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcaactgccaagccagtGtcccagggctgaaaagcaac	12	12	0	1			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr6:70866046G>A	ENST00000322773.4	+	32	2209	c.2107G>A	c.(2107-2109)Gtc>Atc	p.V703I	COL19A1_ENST00000393344.1_Missense_Mutation_p.V325I	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	703	Triple-helical region 4 (COL4).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCAAGCCAGTGTCCCAGGGCT	0.463																																						ENST00000322773.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(2107-2109)Gtc>Atc		collagen, type XIX, alpha 1							91	80	84					6																	70866046		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70866046G>A		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2107G>A	6.37:g.70866046G>A	ENSP00000316030:p.Val703Ile					COL19A1_ENST00000393344.1_Missense_Mutation_p.V325I	p.V703I	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			32	2209	+			703			Triple-helical region 4 (COL4).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.2107G>A	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566750	0.28003	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.91686	-2.89;-2.83	5.14	3.28	0.37604	.	0.190266	0.33235	N	0.005122	T	0.71134	0.3304	N	0.11724	0.165	0.35597	D	0.807571	B	0.31256	0.316	B	0.32022	0.139	T	0.65874	-0.6062	10	0.25106	T	0.35	.	7.7615	0.28955	0.2071:0.0:0.7929:0.0	.	703	Q14993	COJA1_HUMAN	I	703;325	ENSP00000316030:V703I;ENSP00000377013:V325I	ENSP00000316030:V703I	V	+	1	0	COL19A1	70922767	0.987000	0.35691	0.987000	0.45799	0.867000	0.49689	0.941000	0.29005	1.111000	0.41721	0.563000	0.77884	GTC		0.463	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			9	7	0	0	0	0.047766	0	9	7					A	70866046	G	A	70866046	3	1	403	1	0	0	0	0	1	0	0	0	3676	1377	48	2	2229	2	COL19A1	6	70866046	Missense_Mutation	SNP	G	TCGA-FE-A22Z-01A-11D-A17V-08	37959448	70866046	100249021	5	8287											
MTO1	25821	broad.mit.edu	37	chr6	74171794	74171794	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccgcgtggacacgatcGgtgaggagcgcgggtgctgt	17	11	1	1			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr6:74171794G>A	ENST00000370300.4	+	1	307	c.217G>A	c.(217-219)Ggt>Agt	p.G73S	RNU6-975P_ENST00000384296.1_RNA|MTO1_ENST00000370305.1_Intron|MTO1_ENST00000498286.1_Splice_Site_p.G73S|MTO1_ENST00000415954.2_Splice_Site_p.G73S	NM_012123.3|NM_133645.2	NP_036255.2|NP_598400.1	Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	73					mitochondrial tRNA wobble uridine modification (GO:0070899)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						GGACACGATCGGTGAGGAGCG	0.657																																						ENST00000498286.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						c.e1+1		mitochondrial tRNA translation optimization 1							30	32	31					6																	74171794		2201	4299	6500	SO:0001630	splice_region_variant	25821				tRNA processing	mitochondrion	flavin adenine dinucleotide binding	g.chr6:74171794G>A	AF132937	CCDS4979.1, CCDS34485.1, CCDS47452.1	6q14.1	2013-05-07	2013-05-07		ENSG00000135297	ENSG00000135297			19261	protein-coding gene	gene with protein product		614667	"mitochondrial translation optimization 1 homolog (S. cerevisiae)"			12011058, 22608499	Standard	NM_012123		Approved		uc003pgy.4	Q9Y2Z2	OTTHUMG00000015032	ENST00000370300.4:c.217+1G>A	6.37:g.74171794G>A						MTO1_ENST00000370305.1_Intron|MTO1_ENST00000370300.4_Splice_Site_p.G73_splice|MTO1_ENST00000415954.2_Splice_Site_p.G73_splice	p.G73_splice			Q9Y2Z2	MTO1_HUMAN			1	494	+			73					B3KQB5|Q5SWL2|Q5SWL3|Q5SWL4|Q8NDN7|Q8WZ57|Q96FE6|Q9BS06	Splice_Site	SNP	ENST00000370300.4	37	c.217_splice	CCDS4979.1	.	.	.	.	.	.	.	.	.	.	G	37	6.033432	0.97221	.	.	ENSG00000135297	ENST00000415954;ENST00000498286;ENST00000357845;ENST00000370300	T;T;T	0.78595	-1.19;-1.19;-1.19	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.90154	0.6923	M	0.94021	3.485	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	0.92130	0.5711	10	0.87932	D	0	-19.0852	16.504	0.84264	0.0:0.0:1.0:0.0	.	73;73;73	Q9Y2Z2-6;Q9Y2Z2-4;Q9Y2Z2	.;.;MTO1_HUMAN	S	73	ENSP00000402038:G73S;ENSP00000419561:G73S;ENSP00000359323:G73S	ENSP00000350506:G73S	G	+	1	0	MTO1	74228515	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	6.702000	0.74628	2.666000	0.90696	0.555000	0.69702	GGT		0.657	MTO1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041215.2	NM_012123	Missense_Mutation	3	48	0	0	0	0.115264	0	3	48					A	74171794	G	A	74171794	5	1	403	1	0	0	0	0	0	0	1	0	9953	1130	39	1	219	1	MTO1	6	74171794	Splice_Site	SNP	G	TCGA-FE-A22Z-01A-11D-A17V-08	3305748	74171794	96943273	6	8288											
PPIL6	285755	broad.mit.edu	37	chr6	109757309	109757309	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accccaaatatcctttacccTttttttctcctgtagatatt	2	12	1	1			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr6:109757309T>C	ENST00000521072.2	-	2	809	c.229A>G	c.(229-231)Agg>Ggg	p.R77G	PPIL6_ENST00000424445.2_Intron|PPIL6_ENST00000440797.2_Missense_Mutation_p.R77G|AL109947.1_ENST00000459391.1_RNA	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 6	77					protein folding (GO:0006457)		peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		TCCTTTACCCTTTTTTTCTCC	0.338																																						ENST00000521072.2																			0				large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(229-231)Agg>Ggg		peptidylprolyl isomerase (cyclophilin)-like 6							112	120	117					6																	109757309		2203	4300	6503	SO:0001583	missense	285755				protein folding		peptidyl-prolyl cis-trans isomerase activity	g.chr6:109757309T>C		CCDS5074.1, CCDS47466.1, CCDS47466.2, CCDS69169.1	6q21	2009-11-18			ENSG00000185250	ENSG00000185250			21557	protein-coding gene	gene with protein product	"radial spoke 12 homolog (Chlamydomonas)"						Standard	NM_173672		Approved	bA425D10.6, MGC41939, dJ919F19.1, RSPH12	uc010kdp.3	Q8IXY8	OTTHUMG00000036593	ENST00000521072.2:c.229A>G	6.37:g.109757309T>C	ENSP00000427929:p.Arg77Gly					PPIL6_ENST00000424445.2_Intron|PPIL6_ENST00000440797.2_Missense_Mutation_p.R77G	p.R77G	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)	2	809	-		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)	77					A9NIU0|A9NIU9|E7EX15	Missense_Mutation	SNP	ENST00000521072.2	37	c.229A>G	CCDS5074.1	.	.	.	.	.	.	.	.	.	.	T	18.70	3.679091	0.68042	.	.	ENSG00000185250	ENST00000440797;ENST00000521072	T;T	0.20738	2.05;2.05	5.48	-0.419	0.12340	.	0.265381	0.36628	N	0.002482	T	0.14527	0.0351	M	0.67953	2.075	0.80722	D	1	D;P	0.54047	0.964;0.93	P;B	0.44477	0.451;0.306	T	0.21724	-1.0237	10	0.87932	D	0	-11.9471	13.9445	0.64075	0.0:0.0:0.4992:0.5008	.	77;77	A9NIU9;Q8IXY8	.;PPIL6_HUMAN	G	77	ENSP00000392257:R77G;ENSP00000427929:R77G	ENSP00000392257:R77G	R	-	1	2	PPIL6	109864002	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	0.738000	0.26158	0.012000	0.14892	0.533000	0.62120	AGG		0.338	PPIL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089003.4			3	97	0	0	0	0.115264	0	3	97					C	109757309	T	C	109757309	3	2	403	1	0	0	0	0	1	0	0	0	12331	1608	56	3	816	3	PPIL6	6	109757309	Missense_Mutation	SNP	T	TCGA-FE-A22Z-01A-11D-A17V-08	35585515	109757309	61357758	7	8289											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		11	11	0	0	0	0.080935	0	11	11					T	140453136	A	T	140453136	3	4	403	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FE-A22Z-01A-11D-A17V-08		140453136	18685527	8	8290											
COL5A1	1289	broad.mit.edu	37	chr9	137690287	137690287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatggactcccaggacacCctggacagagaggcgagact	14	11	0	2			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr9:137690287C>T	ENST00000371817.3	+	37	3346	c.2932C>T	c.(2932-2934)Cct>Tct	p.P978S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	978	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCAGGACACCCTGGACAGAG	0.577																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(2932-2934)Cct>Tct		collagen, type V, alpha 1							123	103	109					9																	137690287		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137690287C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2932C>T	9.37:g.137690287C>T	ENSP00000360882:p.Pro978Ser						p.P978S	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	37	3346	+		Myeloproliferative disorder(178;0.0341)	978			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.2932C>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037229	0.75617	.	.	ENSG00000130635	ENST00000371817	T	0.35789	1.29	4.81	4.81	0.61882	.	0.000000	0.85682	U	0.000000	T	0.56572	0.1994	L	0.53617	1.68	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.60525	-0.7246	10	0.72032	D	0.01	.	17.4735	0.87653	0.0:1.0:0.0:0.0	.	978	P20908	CO5A1_HUMAN	S	978	ENSP00000360882:P978S	ENSP00000360882:P978S	P	+	1	0	COL5A1	136830108	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.496000	0.81526	2.196000	0.70406	0.643000	0.83706	CCT		0.577	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		6	65	0	0	0	0.02938	0	6	65					T	137690287	C	T	137690287	3	4	403	1	0	0	0	0	1	0	0	0	3696	623	22	2	3078	2	COL5A1	9	137690287	Missense_Mutation	SNP	C	TCGA-FE-A22Z-01A-11D-A17V-08		137690287	3523144	9	8291											
MMS19	64210	broad.mit.edu	37	chr10	99220481	99220481	+	Frame_Shift_Del	DEL	G	G	-													aaggcaggagctgagaggatGgtatctgagcactagggcct							TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr10:99220481delG	ENST00000438925.2	-	25	2775	c.2440delC	c.(2440-2442)catfs	p.H814fs	MMS19_ENST00000327238.10_Frame_Shift_Del_p.H716fs|MMS19_ENST00000370782.2_Frame_Shift_Del_p.H814fs|MMS19_ENST00000327277.7_3'UTR|MMS19_ENST00000355839.6_Frame_Shift_Del_p.H771fs	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	814					cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|iron-sulfur cluster assembly (GO:0016226)|nucleotide-excision repair (GO:0006289)|phosphorelay signal transduction system (GO:0000160)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|membrane (GO:0016020)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)	estrogen receptor binding (GO:0030331)|protein binding, bridging (GO:0030674)|receptor signaling complex scaffold activity (GO:0030159)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		CTGAGAGGATGGTATCTGAGC	0.488								Direct reversal of damage																														ENST00000438925.2																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16						c.(2440-2442)atfs	Direct reversal of damage	MMS19 nucleotide excision repair homolog (S. cerevisiae)							82	76	78					10																	99220481		2203	4300	6503	SO:0001589	frameshift_variant	64210				chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr10:99220481delG	AF007151	CCDS7464.1, CCDS73177.1	10q24-q25	2007-08-15	2007-08-15	2007-08-15	ENSG00000155229	ENSG00000155229			13824	protein-coding gene	gene with protein product	"MET18 homolog (S. cerevisiae)"	614777		MMS19L		11071939	Standard	NM_022362		Approved	MET18, hMMS19	uc001kns.4	Q96T76	OTTHUMG00000018857	ENST00000438925.2:c.2440delC	10.37:g.99220481delG	ENSP00000412698:p.His814fs					MMS19_ENST00000370782.2_Frame_Shift_Del_p.H814fs|MMS19_ENST00000355839.6_Frame_Shift_Del_p.H771fs|MMS19_ENST00000327277.7_3'UTR|MMS19_ENST00000327238.10_Frame_Shift_Del_p.H716fs	p.H814fs	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)	25	2775	-		Colorectal(252;0.0846)	814					B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	Frame_Shift_Del	DEL	ENST00000438925.2	37	c.2440delC	CCDS7464.1																																																																																				0.488	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049706.2			2	4						2	4	---	---	---	---	-	99220481	G	-	99220481	7	5	403	1	0	1	0	1	0	0	0	0	9672	1348	47	0	680	0	MMS19	10	99220481	Frame_Shift_Del	DEL	G	TCGA-FE-A22Z-01A-11D-A17V-08		99220481	36314266	10	8292											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105365619	105365619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgactggaattcggcaatgGtgtagtactccacctcaaca	9	11	1	0			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr10:105365619G>A	ENST00000369774.4	-	14	1640	c.1364C>T	c.(1363-1365)aCc>aTc	p.T455I	SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.T427I|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.T290I|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.T322I|RP11-416N2.4_ENST00000609691.1_RNA			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	455	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		TTCGGCAATGGTGTAGTACTC	0.537											OREG0020500	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(1363-1365)aCc>aTc		SH3 and PX domains 2A							117	93	101					10																	105365619		2203	4300	6503	SO:0001583	missense	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105365619G>A	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"five SH3 domains"		"SH3 multiple domains 1"	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.1364C>T	10.37:g.105365619G>A	ENSP00000358789:p.Thr455Ile		OREG0020500	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1388	SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.T427I|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.T290I|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.T322I|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000315994.6_5'UTR	p.T455I			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	14	1640	-		Colorectal(252;0.0815)|Breast(234;0.131)	455			SH3 3.		D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37	c.1364C>T		.	.	.	.	.	.	.	.	.	.	G	34	5.411146	0.96072	.	.	ENSG00000107957	ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.77	5.77	0.91146	Src homology-3 domain (3);	0.000000	0.85682	D	0.000000	T	0.58736	0.2143	M	0.81497	2.545	0.80722	D	1	D;P;P;P	0.56746	0.977;0.787;0.774;0.943	P;P;P;P	0.62560	0.904;0.794;0.71;0.844	T	0.61613	-0.7027	10	0.72032	D	0.01	-50.3314	19.9983	0.97395	0.0:0.0:1.0:0.0	.	455;304;300;427	Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3	SPD2A_HUMAN;.;.;.	I	455;427;262;370;322;290	ENSP00000358789:T455I;ENSP00000348215:T427I;ENSP00000443663:T322I;ENSP00000441514:T290I	ENSP00000318135:T262I	T	-	2	0	SH3PXD2A	105355609	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.724000	0.93272	0.561000	0.74099	ACC		0.537	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		32	38	0	0	0	0.144211	0	32	38					A	105365619	G	A	105365619	3	1	403	1	0	0	0	0	1	0	0	0	14256	1261	44	2	2045	2	SH3PXD2A	10	105365619	Missense_Mutation	SNP	G	TCGA-FE-A22Z-01A-11D-A17V-08	6145138	105365619	30169128	11	8293											
SORCS3	22986	broad.mit.edu	37	chr10	106974207	106974207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caattctacttaggtatcggCggattgtgtccaacaactgc	9	10	1	0			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr10:106974207C>T	ENST00000369701.3	+	18	2610	c.2383C>T	c.(2383-2385)Cgg>Tgg	p.R795W	SORCS3_ENST00000369699.4_Missense_Mutation_p.R81W	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	795					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TAGGTATCGGCGGATTGTGTC	0.483																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(2383-2385)Cgg>Tgg		sortilin-related VPS10 domain containing receptor 3							124	103	110					10																	106974207		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106974207C>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2383C>T	10.37:g.106974207C>T	ENSP00000358715:p.Arg795Trp					SORCS3_ENST00000369699.4_Missense_Mutation_p.R81W	p.R795W	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	18	2610	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	795					Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.2383C>T	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	c	20.6	4.015744	0.75161	.	.	ENSG00000156395	ENST00000369701;ENST00000369699	T;T	0.69040	-0.37;-0.37	5.89	2.53	0.30540	VPS10 (1);PKD domain (1);	0.108661	0.64402	D	0.000007	T	0.79137	0.4395	M	0.75615	2.305	0.41621	D	0.988964	D	0.89917	1.0	D	0.67548	0.952	T	0.79001	-0.1981	9	.	.	.	.	14.6343	0.68678	0.7352:0.2648:0.0:0.0	.	795	Q9UPU3	SORC3_HUMAN	W	795;81	ENSP00000358715:R795W;ENSP00000358713:R81W	.	R	+	1	2	SORCS3	106964197	1.000000	0.71417	0.964000	0.40570	0.957000	0.61999	3.965000	0.56788	0.227000	0.20999	0.558000	0.71614	CGG		0.483	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		8	15	0	0	0	0.058154	0	8	15					T	106974207	C	T	106974207	3	4	403	1	0	0	0	0	1	0	0	0	14932	759	27	1	2453	1	SORCS3	10	106974207	Missense_Mutation	SNP	C	TCGA-FE-A22Z-01A-11D-A17V-08	1608588	106974207	28560540	12	8294											
TACC2	10579	broad.mit.edu	37	chr10	123970987	123970987	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgaccccaattttaacccTttttcttccacctcaaaaat	2	13	2	1	rs377341447		TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr10:123970987T>C	ENST00000369005.1	+	9	7387	c.7047T>C	c.(7045-7047)ccT>ccC	p.P2349P	TACC2_ENST00000369000.1_Silent_p.P53P|TACC2_ENST00000369004.3_Silent_p.P427P|TACC2_ENST00000334433.3_Silent_p.P2349P|TACC2_ENST00000358010.1_Silent_p.P495P|TACC2_ENST00000513429.1_Silent_p.P495P|TACC2_ENST00000260733.3_Silent_p.P427P|TACC2_ENST00000453444.2_Silent_p.P2353P|TACC2_ENST00000360561.3_Silent_p.P427P|TACC2_ENST00000515273.1_Silent_p.P2353P|TACC2_ENST00000515603.1_Silent_p.P2304P|TACC2_ENST00000368999.1_Silent_p.P427P|TACC2_ENST00000369001.1_Silent_p.P53P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2349	SPAZ.				astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ATTTTAACCCTTTTTCTTCCA	0.468																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(7045-7047)ccT>ccC		transforming, acidic coiled-coil containing protein 2		T	,,,	1,4405	2.1+/-5.4	0,1,2202	182	196	191		1281,1281,1485,7047	-3.4	1.0	10		191	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TACC2	NM_006997.2,NM_206860.1,NM_206861.1,NM_206862.2	,,,	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	,,,	427/1027,427/997,495/1095,2349/2949	123970987	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123970987T>C	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.7047T>C	10.37:g.123970987T>C						TACC2_ENST00000369000.1_Silent_p.P53P|TACC2_ENST00000515603.1_Silent_p.P2304P|TACC2_ENST00000369004.3_Silent_p.P427P|TACC2_ENST00000453444.2_Silent_p.P2353P|TACC2_ENST00000360561.3_Silent_p.P427P|TACC2_ENST00000358010.1_Silent_p.P495P|TACC2_ENST00000260733.3_Silent_p.P427P|TACC2_ENST00000369001.1_Silent_p.P53P|TACC2_ENST00000513429.1_Silent_p.P495P|TACC2_ENST00000515273.1_Silent_p.P2353P|TACC2_ENST00000334433.3_Silent_p.P2349P|TACC2_ENST00000368999.1_Silent_p.P427P	p.P2349P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			9	7387	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2349			SPAZ.		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.7047T>C	CCDS7626.1																																																																																				0.468	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			4	219	0	0	0	0.009096	0	4	219					C	123970987	T	C	123970987	2	2	403	1	0	0	0	0	0	0	0	1	15499	1596	56	3		3	TACC2	10	123970987	Silent	SNP	T	TCGA-FE-A22Z-01A-11D-A17V-08	16996780	123970987	11563760	13	8295											
JAKMIP3	282973	broad.mit.edu	37	chr10	133930583	133930583	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcgctgttgtctttcaggtCagcaaagtggaacgcgagaa	12	9	3	1			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr10:133930583C>T	ENST00000298622.4	+	2	276	c.138C>T	c.(136-138)gtC>gtT	p.V46V		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	46						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TCTTTCAGGTCAGCAAAGTGG	0.572																																						ENST00000298622.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31						c.(136-138)gtC>gtT		Janus kinase and microtubule interacting protein 3							36	39	38					10																	133930583		2152	4249	6401	SO:0001819	synonymous_variant	282973							g.chr10:133930583C>T	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"neuroendocrine long coiled-coil 2"	611198	"chromosome 10 open reading frame 39", "chromosome 10 open reading frame 14"	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.138C>T	10.37:g.133930583C>T							p.V46V	NM_001105521.2	NP_001098991.1				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	2	276	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Silent	SNP	ENST00000298622.4	37	c.138C>T	CCDS44494.1																																																																																				0.572	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		9	32	0	0	0	0.069234	0	9	32					T	133930583	C	T	133930583	2	4	403	1	0	0	0	0	0	0	0	1	7942	813	29	2		2	JAKMIP3	10	133930583	Silent	SNP	C	TCGA-FE-A22Z-01A-11D-A17V-08	9959596	133930583	1604164	14	8296											
CTSW	1521	broad.mit.edu	37	chr11	65651008	65651008	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggctgcaccgagggagcaaTacctgtggcatcaccaagtt	12	12	1	0			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr11:65651008T>C	ENST00000307886.3	+	10	1096	c.1050T>C	c.(1048-1050)aaT>aaC	p.N350N	FIBP_ENST00000426652.2_5'Flank|CTSW_ENST00000528419.1_3'UTR	NM_001335.3	NP_001326	P56202	CATW_HUMAN	cathepsin W	350					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)		GAGGGAGCAATACCTGTGGCA	0.622																																						ENST00000307886.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9						c.(1048-1050)aaT>aaC		cathepsin W							164	160	161					11																	65651008		2201	4296	6497	SO:0001819	synonymous_variant	1521				immune response|proteolysis		cysteine-type endopeptidase activity	g.chr11:65651008T>C	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.1050T>C	11.37:g.65651008T>C						CTSW_ENST00000528419.1_3'UTR	p.N350N	NM_001335.3	NP_001326.2	P56202	CATW_HUMAN		READ - Rectum adenocarcinoma(159;0.168)	10	1096	+			350					Q86VT4	Silent	SNP	ENST00000307886.3	37	c.1050T>C	CCDS8117.1																																																																																				0.622	CTSW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391042.1	NM_001335		47	77	0	0	0	0.139131	0	47	77					C	65651008	T	C	65651008	2	2	403	1	0	0	0	0	0	0	0	1	4042	1403	49	3		3	CTSW	11	65651008	Silent	SNP	T	TCGA-FE-A22Z-01A-11D-A17V-08		65651008	69355508	15	8297											
DCPS	28960	broad.mit.edu	37	chr11	126201357	126201357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacctgcagaagtacctgcGccaggacctccgcctgatcc	9	17	0	2			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr11:126201357G>A	ENST00000263579.4	+	3	763	c.434G>A	c.(433-435)cGc>cAc	p.R145H	DCPS_ENST00000530860.1_3'UTR	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	145					cellular response to menadione (GO:0036245)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA metabolic process (GO:0016071)|negative regulation of programmed cell death (GO:0043069)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	m7G(5')pppN diphosphatase activity (GO:0050072)|RNA 7-methylguanosine cap binding (GO:0000340)	p.R145H(1)		endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		AAGTACCTGCGCCAGGACCTC	0.557																																						ENST00000263579.4																			1	Substitution - Missense(1)	p.R145H(1)	large_intestine(1)	endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(433-435)cGc>cAc		decapping enzyme, scavenger							129	122	124					11																	126201357		2201	4298	6499	SO:0001583	missense	28960				deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding	g.chr11:126201357G>A	AF077201	CCDS8473.1	11q24	2008-02-05			ENSG00000110063	ENSG00000110063			29812	protein-coding gene	gene with protein product		610534				12198172, 14523240	Standard	NM_014026		Approved	HSPC015, HINT-5, HSL1	uc001qdp.3	Q96C86	OTTHUMG00000165829	ENST00000263579.4:c.434G>A	11.37:g.126201357G>A	ENSP00000263579:p.Arg145His					DCPS_ENST00000530860.1_3'UTR	p.R145H	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)	3	763	+	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)	145					Q8NHL8|Q9Y2S5	Missense_Mutation	SNP	ENST00000263579.4	37	c.434G>A	CCDS8473.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.164179	0.38217	.	.	ENSG00000110063	ENST00000263579	T	0.43688	0.94	5.84	3.99	0.46301	Scavenger mRNA decapping enzyme, N-terminal (1);	0.160576	0.64402	N	0.000016	T	0.25938	0.0632	N	0.17901	0.54	0.45403	D	0.998389	B	0.06786	0.001	B	0.04013	0.001	T	0.04870	-1.0921	10	0.44086	T	0.13	-14.2084	7.673	0.28470	0.3127:0.0:0.6873:0.0	.	145	Q96C86	DCPS_HUMAN	H	145	ENSP00000263579:R145H	ENSP00000263579:R145H	R	+	2	0	DCPS	125706567	0.970000	0.33590	1.000000	0.80357	0.987000	0.75469	1.377000	0.34317	0.831000	0.34780	0.655000	0.94253	CGC		0.557	DCPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386455.1	NM_014026		4	96	0	0	0	0.009096	0	4	96					A	126201357	G	A	126201357	3	1	403	1	0	0	0	0	1	0	0	0	4301	1087	38	1	444	1	DCPS	11	126201357	Missense_Mutation	SNP	G	TCGA-FE-A22Z-01A-11D-A17V-08	60550349	126201357	8805159	16	8298											
C13orf23	80209	broad.mit.edu	37	chr13	39587564	39587564	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtaggacttgtgggctcagTtttgatcataacaggaagag	13	5	2	2			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr13:39587564T>C	ENST00000352251.3	-	11	2658	c.1825A>G	c.(1825-1827)Act>Gct	p.T609A	PROSER1_ENST00000350125.3_Missense_Mutation_p.T587A|PROSER1_ENST00000484434.3_Intron	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	609	Ser-rich.																GTGGGCTCAGTTTTGATCATA	0.532																																						ENST00000352251.3																			0											c.(1825-1827)Act>Gct		proline and serine rich 1							156	165	162					13																	39587564		2203	4300	6503	SO:0001583	missense	80209							g.chr13:39587564T>C	AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 23"	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.1825A>G	13.37:g.39587564T>C	ENSP00000332034:p.Thr609Ala					PROSER1_ENST00000350125.3_Missense_Mutation_p.T587A|PROSER1_ENST00000484434.2_Intron	p.T609A	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN			11	2658	-			609			Ser-rich.		A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	ENST00000352251.3	37	c.1825A>G	CCDS9368.2	.	.	.	.	.	.	.	.	.	.	T	14.46	2.543131	0.45280	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	T;T	0.50548	0.74;0.74	5.01	2.56	0.30785	.	.	.	.	.	T	0.30510	0.0767	L	0.29908	0.895	0.26349	N	0.977236	B;B	0.10296	0.003;0.003	B;B	0.13407	0.009;0.005	T	0.22138	-1.0225	8	.	.	.	-11.4859	4.3114	0.10972	0.1459:0.1602:0.0:0.6939	.	587;609	A6NJ97;Q86XN7	.;PRSR1_HUMAN	A	609;587	ENSP00000332034:T609A;ENSP00000339123:T587A	.	T	-	1	0	PROSER1	38485564	1.000000	0.71417	0.984000	0.44739	0.988000	0.76386	1.674000	0.37544	0.336000	0.23639	0.459000	0.35465	ACT		0.532	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138		18	106	0	0	0	0.043863	0	18	106					C	39587564	T	C	39587564	3	2	403	1	0	0	0	0	1	0	0	0	1721	1725	60	3	1021	3	C13orf23	13	39587564	Missense_Mutation	SNP	T	TCGA-FE-A22Z-01A-11D-A17V-08		39587564	75582314	17	8299											
RAI1	10743	broad.mit.edu	37	chr17	17696275	17696275	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccgagtcatgcagtcttttCgagaaaggtgtggtttccat	11	9	2	1			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr17:17696275C>T	ENST00000353383.1	+	3	482	c.13C>T	c.(13-15)Cga>Tga	p.R5*	RAI1_ENST00000261641.6_Nonsense_Mutation_p.R5*	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	5					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GCAGTCTTTTCGAGAAAGGTG	0.562																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(13-15)Cga>Tga		retinoic acid induced 1							41	43	43					17																	17696275		2203	4300	6503	SO:0001587	stop_gained	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17696275C>T	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.13C>T	17.37:g.17696275C>T	ENSP00000323074:p.Arg5*					RAI1_ENST00000261641.6_Nonsense_Mutation_p.R5*	p.R5*	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	482	+			5					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Nonsense_Mutation	SNP	ENST00000353383.1	37	c.13C>T	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	C	39	7.537132	0.98345	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	.	.	.	4.45	3.45	0.39498	.	0.000000	0.52532	D	0.000073	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0824	0.59121	0.1623:0.8377:0.0:0.0	.	.	.	.	X	5	.	ENSP00000261641:R5X	R	+	1	2	RAI1	17637000	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.696000	0.47052	0.811000	0.34303	0.462000	0.41574	CGA		0.562	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		17	10	0	0	0	0.043863	0	17	10					T	17696275	C	T	17696275	4	4	403	1	0	0	0	0	0	1	0	0	13007	876	31	1	15	1	RAI1	17	17696275	Nonsense_Mutation	SNP	C	TCGA-FE-A22Z-01A-11D-A17V-08		17696275	63498935	18	8300											
HDAC5	10014	broad.mit.edu	37	chr17	42170141	42170141	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggggccgctctggggaggGgaactctggtccaaagaagc	19	9	2	1			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr17:42170141G>A	ENST00000393622.2	-	7	1006	c.675C>T	c.(673-675)tcC>tcT	p.S225S	HDAC5_ENST00000586802.1_Silent_p.S225S|HDAC5_ENST00000225983.6_Silent_p.S226S|HDAC5_ENST00000336057.5_Silent_p.S225S	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	225					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|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)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		TCTGGGGAGGGGAACTCTGGT	0.642																																						ENST00000225983.6																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21						c.(676-678)tcC>tcT		histone deacetylase 5							15	19	17					17																	42170141		2106	4192	6298	SO:0001819	synonymous_variant	10014				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr17:42170141G>A	AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.675C>T	17.37:g.42170141G>A						HDAC5_ENST00000586802.1_Silent_p.S225S|HDAC5_ENST00000336057.5_Silent_p.S225S|HDAC5_ENST00000393622.2_Silent_p.S225S	p.S226S			Q9UQL6	HDAC5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.118)	7	1001	-		Breast(137;0.00637)|Prostate(33;0.0313)	225					C9JFV9|O60340|O60528|Q96DY4	Silent	SNP	ENST00000393622.2	37	c.678C>T	CCDS45696.1																																																																																				0.642	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053		11	20	0	0	0	0.080935	0	11	20					A	42170141	G	A	42170141	2	1	403	1	0	0	0	0	0	0	0	1	7010	1219	43	2		2	HDAC5	17	42170141	Silent	SNP	G	TCGA-FE-A22Z-01A-11D-A17V-08	24473866	42170141	39025069	19	8301											
MIB1	57534	broad.mit.edu	37	chr18	19378075	19378075	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagttggccgagtacaacagAtttattcagacagtgattta	9	6	1	3			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr18:19378075A>T	ENST00000261537.6	+	8	1387	c.1123A>T	c.(1123-1125)Att>Ttt	p.I375F	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	375					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			AGTACAACAGATTTATTCAGA	0.378																																						ENST00000261537.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27						c.(1123-1125)Att>Ttt		mindbomb E3 ubiquitin protein ligase 1							130	129	129					18																	19378075		2203	4299	6502	SO:0001583	missense	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19378075A>T	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"Zinc fingers, ZZ-type", "Ankyrin repeat domain containing"	21086	protein-coding gene	gene with protein product		608677	"mindbomb homolog 1 (Drosophila)"				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.1123A>T	18.37:g.19378075A>T	ENSP00000261537:p.Ile375Phe					MIB1_ENST00000578646.1_3'UTR	p.I375F	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		8	1387	+			375					B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	ENST00000261537.6	37	c.1123A>T	CCDS11871.1	.	.	.	.	.	.	.	.	.	.	A	19.83	3.900618	0.72754	.	.	ENSG00000101752	ENST00000261537	T	0.41400	1.0	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.59473	0.2196	M	0.82823	2.61	0.80722	D	1	P	0.40431	0.717	P	0.49047	0.599	T	0.66085	-0.6011	10	0.72032	D	0.01	-16.5214	15.3585	0.74448	1.0:0.0:0.0:0.0	.	375	Q86YT6	MIB1_HUMAN	F	375	ENSP00000261537:I375F	ENSP00000261537:I375F	I	+	1	0	MIB1	17632073	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.271000	0.95698	2.089000	0.63090	0.491000	0.48974	ATT		0.378	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774		10	33	0	0	0	0.058154	0	10	33					T	19378075	A	T	19378075	3	4	403	1	0	0	0	0	1	0	0	0	9566	333	12	5	1153	5	MIB1	18	19378075	Missense_Mutation	SNP	A	TCGA-FE-A22Z-01A-11D-A17V-08		19378075	58699173	20	8302											
CTSA	5476	broad.mit.edu	37	chr20	44520006	44520007	+	5'UTR	INS	-	-	T													ctcctggagagcaaggacgcINSgggggagcagaggtgagctg							TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr20:44520006_44520007insT	ENST00000191018.5	+	0	27_28				NEURL2_ENST00000372518.4_5'Flank|CTSA_ENST00000372459.2_5'Flank|CTSA_ENST00000354880.5_Frame_Shift_Ins_p.G15fs|CTSA_ENST00000372484.3_Frame_Shift_Ins_p.G15fs|RP3-337O18.9_ENST00000607703.1_RNA			P10619	PPGB_HUMAN	cathepsin A						glycosphingolipid metabolic process (GO:0006687)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|enzyme activator activity (GO:0008047)|serine-type carboxypeptidase activity (GO:0004185)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				AGCAAGGACGCGGGGGAGCAGA	0.698																																						ENST00000372484.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(40-45)cgggggfs		cathepsin A																																				SO:0001623	5_prime_UTR_variant	5476				intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity	g.chr20:44520006_44520007insT	M22960	CCDS13385.2, CCDS46609.1, CCDS54467.1	20q13.12	2012-02-10	2006-12-05	2006-12-05	ENSG00000064601	ENSG00000064601	3.4.16.5	"Cathepsins"	9251	protein-coding gene	gene with protein product	"carboxypeptidase C", "lysosomal protective protein", "carboxypeptidase-L", "carboxypeptidase Y-like kininase", "deamidase", "lysosomal carboxypeptidase A", "urinary kininase"	613111	"protective protein for beta-galactosidase (galactosialidosis)"	GSL, PPGB		2071143	Standard	NM_000308		Approved		uc002xqh.3	P10619	OTTHUMG00000033078	ENST00000191018.5:c.-58->T	20.37:g.44520006_44520007insT						CTSA_ENST00000354880.5_Frame_Shift_Ins_p.RG14fs|CTSA_ENST00000191018.5_5'UTR	p.RG14fs	NM_000308.2|NM_001127695.1	NP_000299.2|NP_001121167.1	P10619	PPGB_HUMAN			1	324_325	+		Myeloproliferative disorder(115;0.0122)	0					B2R798|Q561W6|Q5JZH1|Q96KJ2|Q9BR08|Q9BW68	Frame_Shift_Ins	INS	ENST00000191018.5	37	c.42_43insT	CCDS46609.1																																																																																				0.698	CTSA-004	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080500.1	NM_000308		2	4						2	4	---	---	---	---	T	44520007	-	T	44520006	6	5	403	0	1	1	1	0	0	0	0	0	4029	755	27	0		0	CTSA	20	44520006	5'UTR	INS	-	TCGA-FE-A22Z-01A-11D-A17V-08		44520006	18505514	21	8303											
PPEF1	5475	broad.mit.edu	37	chrX	18842187	18842187	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcttccagaatatccgcattGaaaaacctgtacaagaggca	8	10	0	3			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chrX:18842187G>A	ENST00000361511.4	+	17	2142	c.1648G>A	c.(1648-1650)Gaa>Aaa	p.E550K	PPEF1_ENST00000544635.1_Missense_Mutation_p.E485K|PPEF1_ENST00000349874.5_Missense_Mutation_p.E488K|PPEF1_ENST00000543630.1_3'UTR|PPEF1_ENST00000359763.6_Missense_Mutation_p.E497K	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	550					detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					TATCCGCATTGAAAAACCTGT	0.463																																						ENST00000361511.4																			0				breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43						c.(1648-1650)Gaa>Aaa		protein phosphatase, EF-hand calcium binding domain 1							104	89	94					X																	18842187		2203	4300	6503	SO:0001583	missense	5475				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chrX:18842187G>A	BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	9243	protein-coding gene	gene with protein product	"protein phosphatase 7, catalytic subunit, alpha isozyme"	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.1648G>A	X.37:g.18842187G>A	ENSP00000354871:p.Glu550Lys					PPEF1_ENST00000544635.1_Missense_Mutation_p.E485K|PPEF1_ENST00000543630.1_3'UTR|PPEF1_ENST00000359763.6_Missense_Mutation_p.E497K|PPEF1_ENST00000349874.5_Missense_Mutation_p.E488K	p.E550K	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN			17	2142	+	Hepatocellular(33;0.183)		550					A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Missense_Mutation	SNP	ENST00000361511.4	37	c.1648G>A	CCDS14188.1	.	.	.	.	.	.	.	.	.	.	G	9.035	0.988217	0.18966	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000544635	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.2	3.33	0.38152	.	1.681740	0.02951	N	0.141693	T	0.29158	0.0725	L	0.33245	0.995	0.09310	N	1	B;B;P	0.38078	0.386;0.323;0.617	B;B;B	0.30855	0.085;0.079;0.121	T	0.20371	-1.0277	10	0.12430	T	0.62	-5.4647	6.7829	0.23657	0.1951:0.4337:0.3712:0.0	.	488;550;522	O14829-5;O14829;O14829-3	.;PPE1_HUMAN;.	K	550;497;488;485	ENSP00000354871:E550K;ENSP00000352806:E497K;ENSP00000341892:E488K;ENSP00000441289:E485K	ENSP00000341892:E488K	E	+	1	0	PPEF1	18752108	0.005000	0.15991	0.090000	0.20809	0.110000	0.19582	-0.065000	0.11617	1.105000	0.41606	0.600000	0.82982	GAA		0.463	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240		13	27	0	0	0	0.09319	0	13	27					A	18842187	G	A	18842187	3	1	403	1	0	0	0	0	1	0	0	0	12307	1291	45	2	1702	2	PPEF1	23	18842187	Missense_Mutation	SNP	G	TCGA-FE-A22Z-01A-11D-A17V-08		18842187	136428373	22	8304											
USP9X	8239	broad.mit.edu	37	chrX	40988337	40988337	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtgatgccccaccacagcttGaagatgaggaacctgcattt	10	11	0	4			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chrX:40988337G>T	ENST00000324545.8	+	3	814	c.181G>T	c.(181-183)Gaa>Taa	p.E61*	USP9X_ENST00000378308.2_Nonsense_Mutation_p.E61*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	61					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ACCACAGCTTGAAGATGAGGA	0.458																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(181-183)Gaa>Taa		ubiquitin specific peptidase 9, X-linked							106	97	100					X																	40988337		2203	4300	6503	SO:0001587	stop_gained	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:40988337G>T	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.181G>T	X.37:g.40988337G>T	ENSP00000316357:p.Glu61*					USP9X_ENST00000378308.2_Nonsense_Mutation_p.E61*	p.E61*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			3	814	+			61					O75550|Q8WWT3|Q8WX12	Nonsense_Mutation	SNP	ENST00000324545.8	37	c.181G>T	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	38	6.730175	0.97796	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.195	0.89818	0.0:0.0:1.0:0.0	.	.	.	.	X	61	.	ENSP00000316357:E61X	E	+	1	0	USP9X	40873281	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.444000	0.97578	2.234000	0.73211	0.600000	0.82982	GAA		0.458	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		14	15	1	0	1.52009e-12	0.132662	1.90011e-12	14	15					T	40988337	G	T	40988337	4	4	403	1	0	0	0	0	0	1	0	0	17087	1291	45	4	187	4	USP9X	23	40988337	Nonsense_Mutation	SNP	G	TCGA-FE-A22Z-01A-11D-A17V-08	22146150	40988337	114282223	23	8305											
FAM120C	54954	broad.mit.edu	37	chrX	54209302	54209303	+	In_Frame_Ins	INS	-	-	GGCGGC													gggccccgggcagctgagggINSggcggcggcggcggcagcgg							TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chrX:54209302_54209303insGGCGGC	ENST00000375180.2	-	1	385_386	c.329_330insGCCGCC	c.(328-330)ccc>ccGCCGCCc	p.110_110P>PPP	FAM120C_ENST00000328235.4_In_Frame_Ins_p.110_110P>PPP|FAM120C_ENST00000497680.1_5'Flank|FAM120C_ENST00000477084.1_In_Frame_Ins_p.110_110P>PPP	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	110							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCAGCTGAGGGGGCGGCGGCGG	0.748														77	0.0203974	0.0045	0.0159	3775	,	,		9228	0		0.0467	False		,,,				2504	0.0133					ENST00000375180.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(328-330)ccc>cGCCGCCcc		family with sequence similarity 120C																																				SO:0001652	inframe_insertion	54954							g.chrX:54209302_54209303insGGCGGC	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"chromosome X open reading frame 17"	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.324_329dupGCCGCC	X.37:g.54209303_54209308dupGGCGGC	ENSP00000364324:p.ProPro110dup					FAM120C_ENST00000328235.4_In_Frame_Ins_p.109_110insRR|FAM120C_ENST00000477084.1_In_Frame_Ins_p.109_110insRR	p.109_110insRR	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN			1	385_386	-			109					B2RMT7	In_Frame_Ins	INS	ENST00000375180.2	37	c.329_330insGCCGCC	CCDS14356.1																																																																																				0.748	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		4	8						4	8	---	---	---	---	GGCGGC	54209303	-	GGCGGC	54209302	7	5	403	1	0	1	1	0	0	0	0	0	5418	1219	43	0	3046	0	FAM120C	23	54209302	In_Frame_Ins	INS	-	TCGA-FE-A22Z-01A-11D-A17V-08	13220965	54209302	101061258	24	8306											
CENPI	2491	broad.mit.edu	37	chrX	100383791	100383791	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgagccagtcttgctgagGttttattactggttgagtca	12	6	2	3			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chrX:100383791G>A	ENST00000372927.1	+	11	1438	c.1161G>A	c.(1159-1161)agG>agA	p.R387R	CENPI_ENST00000372926.1_Silent_p.R387R|CENPI_ENST00000423383.1_Silent_p.R387R|CENPI_ENST00000218507.5_Silent_p.R387R	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	387					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						TCTTGCTGAGGTTTTATTACT	0.413																																						ENST00000372927.1																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						c.(1159-1161)agG>agA		centromere protein I							185	157	166					X																	100383791		2203	4300	6503	SO:0001819	synonymous_variant	2491				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	g.chrX:100383791G>A	X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"FSH primary response (LRPR1, rat) homolog 1", "FSH primary response (LRPR1 homolog, rat) 1"	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.1161G>A	X.37:g.100383791G>A						CENPI_ENST00000372926.1_Silent_p.R387R|CENPI_ENST00000423383.1_Silent_p.R387R|CENPI_ENST00000218507.5_Silent_p.R387R	p.R387R	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN			11	1438	+			387					Q5JWZ9|Q96ED0	Silent	SNP	ENST00000372927.1	37	c.1161G>A	CCDS14479.1																																																																																				0.413	CENPI-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057519.1	NM_006733		25	43	0	0	0	0.0918	0	25	43					A	100383791	G	A	100383791	2	1	403	1	0	0	0	0	0	0	0	1	3233	1252	44	2		2	CENPI	23	100383791	Silent	SNP	G	TCGA-FE-A22Z-01A-11D-A17V-08	46174489	100383791	54886769	25	8307											
F8	2157	broad.mit.edu	37	chrX	154157148	154157148	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccaggtgacttctatttcGggcttattttgtccctcatt	8	11	2	1	rs147629393		TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chrX:154157148G>A	ENST00000360256.4	-	14	5117	c.4917C>T	c.(4915-4917)ccC>ccT	p.P1639P		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1639	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.P1639P(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CTTCTATTTCGGGCTTATTTT	0.423																																						ENST00000360256.4																			2	Substitution - coding silent(2)	p.P1639P(2)	lung(2)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(4915-4917)ccC>ccT		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	G		2,3833		0,2,1630,571	135	123	127		4917	1.1	0.0	X	dbSNP_134	127	0,6728		0,0,2428,1872	no	coding-synonymous	F8	NM_000132.3		0,2,4058,2443	AA,AG,GG,G		0.0,0.0522,0.0189		1639/2352	154157148	2,10561	2203	4300	6503	SO:0001819	synonymous_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154157148G>A	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4917C>T	X.37:g.154157148G>A							p.P1639P	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	5117	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1639			B.		Q14286|Q5HY69	Silent	SNP	ENST00000360256.4	37	c.4917C>T	CCDS35457.1																																																																																				0.423	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			25	77	0	0	0	0.0918	0	25	77					A	154157148	G	A	154157148	2	1	403	1	0	0	0	0	0	0	0	1	5350	1103	39	1		1	F8	23	154157148	Silent	SNP	G	TCGA-FE-A22Z-01A-11D-A17V-08	53773357	154157148	1113412	26	8308											
FBLIM1	54751	broad.mit.edu	37	chr1	16093875	16093875	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcccccattgcaggatgCccaccccctcctcctgtcct	5	22	0	0			TCGA-FE-A230-01A-11D-A14W-08	TCGA-FE-A230-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b0a900-aaa3-4043-b959-8c31d3afa77f	0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8	g.chr1:16093875C>T	ENST00000375766.3	+	4	895	c.255C>T	c.(253-255)tgC>tgT	p.C85C	FBLIM1_ENST00000441801.2_Silent_p.C85C|FBLIM1_ENST00000400773.1_Intron|FBLIM1_ENST00000375771.1_Silent_p.C85C|FBLIM1_ENST00000332305.5_Intron	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	85	Intrinsically disordered.|Pro-rich.				cell junction assembly (GO:0034329)|regulation of cell shape (GO:0008360)|regulation of integrin activation (GO:0033623)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|stress fiber (GO:0001725)	filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		TTGCAGGATGCCCACCCCCTC	0.627																																						ENST00000375766.3																			0				large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16						c.(253-255)tgC>tgT		filamin binding LIM protein 1							45	42	43					1																	16093875		2203	4299	6502	SO:0001819	synonymous_variant	54751				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding	g.chr1:16093875C>T		CCDS163.1, CCDS30609.1, CCDS44064.1	1p36.13	2014-04-07			ENSG00000162458	ENSG00000162458			24686	protein-coding gene	gene with protein product		607747				12679033, 12496242	Standard	XM_005245900		Approved	FBLP-1, CAL, migfilin	uc001axe.1	Q8WUP2	OTTHUMG00000003079	ENST00000375766.3:c.255C>T	1.37:g.16093875C>T						FBLIM1_ENST00000400773.1_Intron|FBLIM1_ENST00000332305.5_Intron|FBLIM1_ENST00000375771.1_Silent_p.C85C|FBLIM1_ENST00000441801.2_Silent_p.C85C	p.C85C	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)	4	895	+		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	85			Pro-rich.		B3KNY0|Q5VVE0|Q5VVE1|Q8IX23|Q96T00|Q9UFD6	Silent	SNP	ENST00000375766.3	37	c.255C>T	CCDS163.1																																																																																				0.627	FBLIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008511.3	NM_001024215		4	55	0	0	0	0.000602	0	4	55					T	16093875	C	T	16093875	2	4	404	1	0	0	0	0	0	0	0	1	5697	747	26	2		2	FBLIM1	1	16093875	Silent	SNP	C	TCGA-FE-A230-01A-11D-A14W-08		16093875	233156746	1	8309											
RYK	6259	broad.mit.edu	37	chr3	133913947	133913948	+	Frame_Shift_Ins	INS	-	-	G													gtgataggagttgcattgttINSgggcgtgtctgctctcagat							TCGA-FE-A230-01A-11D-A14W-08	TCGA-FE-A230-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b0a900-aaa3-4043-b959-8c31d3afa77f	0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8	g.chr3:133913947_133913948insG	ENST00000427044.2	-	8	901_902	c.291_292insC	c.(289-294)cccaacfs	p.N98fs	RYK_ENST00000296084.4_Frame_Shift_Ins_p.N288fs			P34925	RYK_HUMAN	receptor-like tyrosine kinase	287	WIF. {ECO:0000255|PROSITE- ProRule:PRU00222}.				axon guidance (GO:0007411)|corpus callosum development (GO:0022038)|neuron differentiation (GO:0030182)|neuron projection development (GO:0031175)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of MAPK cascade (GO:0043410)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			lung(1)|ovary(3)	4						GTTGCATTGTTGGGCGTGTCTG	0.45																																						ENST00000427044.2																			0				lung(1)|ovary(3)	4						c.(289-294)ccacaafs		receptor-like tyrosine kinase																																				SO:0001589	frameshift_variant	6259				corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr3:133913947_133913948insG	S59184	CCDS75016.1	3q22.1	2012-02-28	2012-02-28		ENSG00000163785	ENSG00000163785	2.7.10.1		10481	protein-coding gene	gene with protein product		600524	"JTK5A protein tyrosine kinase", "RYK receptor-like tyrosine kinase"	JTK5A		8386829	Standard	NM_001005861		Approved	D3S3195, RYK1, JTK5	uc003eqc.1	P34925	OTTHUMG00000159750	ENST00000427044.2:c.292dupC	3.37:g.133913950_133913950dupG	ENSP00000399527:p.Asn98fs					RYK_ENST00000296084.4_Frame_Shift_Ins_p.Q288fs	p.Q98fs			P34925	RYK_HUMAN			8	901_902	-			287			WIF.		Q04696	Frame_Shift_Ins	INS	ENST00000427044.2	37	c.291_292insC																																																																																					0.45	RYK-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001005861		12	30						12	30	---	---	---	---	G	133913948	-	G	133913947	7	5	404	1	0	1	1	0	0	0	0	0	13767	1812	63	0	1000	0	RYK	3	133913947	Frame_Shift_Ins	INS	-	TCGA-FE-A230-01A-11D-A14W-08		133913947	64108483	2	8310											
HIST1H1E	3008	broad.mit.edu	37	chr6	26156692	26156692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccgtgaagaagaaggcccGcaagtctgcaggtgcggcca	14	12	1	3			TCGA-FE-A230-01A-11D-A14W-08	TCGA-FE-A230-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b0a900-aaa3-4043-b959-8c31d3afa77f	0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8	g.chr6:26156692G>A	ENST00000304218.3	+	1	134	c.74G>A	c.(73-75)cGc>cAc	p.R25H	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	25					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.R25P(1)		NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						AAGAAGGCCCGCAAGTCTGCA	0.647																																						ENST00000304218.3																			1	Substitution - Missense(1)	p.R25P(1)	lung(1)	NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						c.(73-75)cGc>cAc		histone cluster 1, H1e							32	41	38					6																	26156692		2185	4281	6466	SO:0001583	missense	3008				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26156692G>A	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"Histones / Replication-dependent"	4718	protein-coding gene	gene with protein product		142220	"H1 histone family, member 4", "histone 1, H1e"	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.74G>A	6.37:g.26156692G>A	ENSP00000307705:p.Arg25His						p.R25H	NM_005321.2	NP_005312.1	P10412	H14_HUMAN			1	134	+			25					Q4VB25	Missense_Mutation	SNP	ENST00000304218.3	37	c.74G>A	CCDS4586.1	.	.	.	.	.	.	.	.	.	.	.	11.37	1.618776	0.28801	.	.	ENSG00000168298	ENST00000304218	T	0.09163	3.01	5.49	4.39	0.52855	.	0.297668	0.33980	N	0.004377	T	0.01870	0.0059	N	0.08118	0	0.32768	N	0.504197	B	0.09022	0.002	B	0.01281	0.0	T	0.36407	-0.9749	10	0.66056	D	0.02	-2.4329	4.5977	0.12338	0.2792:0.0:0.7208:0.0	.	25	P10412	H14_HUMAN	H	25	ENSP00000307705:R25H	ENSP00000307705:R25H	R	+	2	0	HIST1H1E	26264671	0.008000	0.16893	1.000000	0.80357	0.089000	0.18198	1.543000	0.36147	2.727000	0.93392	0.655000	0.94253	CGC		0.647	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		4	104	0	0	0	0.009096	0	4	104					A	26156692	G	A	26156692	3	1	404	1	0	0	0	0	1	0	0	0	7126	1087	38	1	76	1	HIST1H1E	6	26156692	Missense_Mutation	SNP	G	TCGA-FE-A230-01A-11D-A14W-08		26156692	144958375	3	8311											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FE-A230-01A-11D-A14W-08	TCGA-FE-A230-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b0a900-aaa3-4043-b959-8c31d3afa77f	0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		15	24	0	0	0	0.00245	0	15	24					T	140453136	A	T	140453136	3	4	404	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FE-A230-01A-11D-A14W-08		140453136	18685527	4	8312											
NRG1	3084	broad.mit.edu	37	chr8	32505799	32505799	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctttcttgccgtccactgCgccatccttcccttcaccca	4	19	3	0	rs199722954		TCGA-FE-A230-01A-11D-A14W-08	TCGA-FE-A230-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b0a900-aaa3-4043-b959-8c31d3afa77f	0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8	g.chr8:32505799C>T	ENST00000405005.3	+	5	502				NRG1_ENST00000520502.2_Missense_Mutation_p.A188V|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000287842.3_Intron			Q02297	NRG1_HUMAN	neuregulin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CCGTCCACTGCGCCATCCTTC	0.507													C|||	1	0.000199681	0	0	5008	,	,		19493	0		0.001	False		,,,				2504	0					ENST00000520502.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39						c.(562-564)gCg>gTg		neuregulin 1							182	146	158					8																	32505799		2203	4300	6503	SO:0001627	intron_variant	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32505799C>T	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"Immunoglobulin superfamily / I-set domain containing"	7997	protein-coding gene	gene with protein product		142445	"NRG1 intronic transcript 2 (non-protein coding)"	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.502+31396C>T	8.37:g.32505799C>T						NRG1_ENST00000341377.5_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000287840.5_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000405005.2_Intron	p.A188V	NM_013959.3	NP_039253.1	Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	1	563	+		Breast(100;0.203)	445			EGF-like.		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	c.563C>T	CCDS6085.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	9.547	1.114813	0.20795	.	.	ENSG00000157168	ENST00000520502;ENST00000523041	.	.	.	5.59	3.77	0.43336	.	.	.	.	.	T	0.28267	0.0698	N	0.24115	0.695	0.80722	D	1	B;P	0.49253	0.014;0.921	B;B	0.35073	0.006;0.195	T	0.02829	-1.1105	8	0.33940	T	0.23	.	11.0293	0.47763	0.0:0.8533:0.0:0.1467	.	188;188	Q53F54;Q02297-10	.;.	V	188;148	.	ENSP00000433289:A188V	A	+	2	0	NRG1	32625341	0.574000	0.26684	0.461000	0.27105	0.348000	0.29142	1.452000	0.35156	0.802000	0.34089	0.655000	0.94253	GCG		0.507	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			17	38	0	0	0	0.006122	0	17	38					T	32505799	C	T	32505799	1	4	404	0	1	0	0	0	0	0	0	0	10647	768	27	1		1	NRG1	8	32505799	Intron	SNP	C	TCGA-FE-A230-01A-11D-A14W-08		32505799	113858223	5	8313											
CCDC41	51134	broad.mit.edu	37	chr12	94794732	94794732	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcatagcgaagcttattaTatacagctctatacttttct	5	8	3	0			TCGA-FE-A230-01A-11D-A14W-08	TCGA-FE-A230-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b0a900-aaa3-4043-b959-8c31d3afa77f	0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8	g.chr12:94794732T>C	ENST00000397809.5	-	6	992	c.443A>G	c.(442-444)tAt>tGt	p.Y148C	CCDC41_ENST00000339839.5_Missense_Mutation_p.Y148C|CCDC41_ENST00000397807.2_Missense_Mutation_p.Y115C|CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000547575.1_Missense_Mutation_p.Y148C	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		140					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						AAGCTTATTATATACAGCTCT	0.303																																						ENST00000397809.5																			0				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						c.(442-444)tAt>tGt		coiled-coil domain containing 41							102	98	99					12																	94794732		1801	4061	5862	SO:0001583	missense	51134							g.chr12:94794732T>C																												ENST00000397809.5:c.443A>G	12.37:g.94794732T>C	ENSP00000380911:p.Tyr148Cys					CCDC41_ENST00000547575.1_Missense_Mutation_p.Y148C|CCDC41_ENST00000339839.5_Missense_Mutation_p.Y148C|CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000397807.2_Missense_Mutation_p.Y115C	p.Y148C	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN			6	992	-			140					A4FVB1|Q08AP1	Missense_Mutation	SNP	ENST00000397809.5	37	c.443A>G	CCDS41820.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.155413	0.78114	.	.	ENSG00000173588	ENST00000339839;ENST00000397809;ENST00000397807;ENST00000547575	T;T;T;T	0.65549	0.54;0.54;0.54;-0.16	5.85	5.85	0.93711	.	.	.	.	.	T	0.77491	0.4138	M	0.65498	2.005	0.51233	D	0.999917	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.77310	-0.2635	9	0.44086	T	0.13	-9.0848	15.9025	0.79392	0.0:0.0:0.0:1.0	.	148;115;140	F8VYN8;Q9Y592-2;Q9Y592	.;.;CCD41_HUMAN	C	148;148;115;148	ENSP00000344655:Y148C;ENSP00000380911:Y148C;ENSP00000380909:Y115C;ENSP00000448913:Y148C	ENSP00000344655:Y148C	Y	-	2	0	CCDC41	93318863	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	6.553000	0.73918	2.238000	0.73509	0.528000	0.53228	TAT		0.303	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3			22	46	0	0	0	0.012319	0	22	46					C	94794732	T	C	94794732	3	2	404	1	0	0	0	0	1	0	0	0	2813	1406	49	3	1710	3	CCDC41	12	94794732	Missense_Mutation	SNP	T	TCGA-FE-A230-01A-11D-A14W-08		94794732	39057163	6	8314											
WDR83	84292	broad.mit.edu	37	chr19	12780673	12780673	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggttgaagacgctggactgCgggcagggggcagtgcgagc	20	9	0	2			TCGA-FE-A230-01A-11D-A14W-08	TCGA-FE-A230-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b0a900-aaa3-4043-b959-8c31d3afa77f	0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8	g.chr19:12780673C>T	ENST00000418543.3	+	3	418	c.69C>T	c.(67-69)tgC>tgT	p.C23C	WDR83OS_ENST00000600694.1_5'Flank|CTD-2192J16.24_ENST00000597961.1_5'Flank|WDR83OS_ENST00000596731.1_5'UTR|WDR83OS_ENST00000222190.5_5'Flank|WDR83_ENST00000242796.4_Silent_p.C23C	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	23					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)				breast(2)|large_intestine(1)|lung(1)	4						CGCTGGACTGCGGGCAGGGGG	0.617																																						ENST00000418543.3																			0				breast(2)|large_intestine(1)|lung(1)	4						c.(67-69)tgC>tgT		WD repeat domain 83							49	60	56					19																	12780673		2202	4299	6501	SO:0001819	synonymous_variant	84292				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm		g.chr19:12780673C>T	AK074525	CCDS12275.1	19p13.13	2013-01-09			ENSG00000123154	ENSG00000123154		"WD repeat domain containing"	32672	protein-coding gene	gene with protein product	"MAPK organizer 1"					15118098, 16407229	Standard	NM_032332		Approved	MORG1	uc010dyw.3	Q9BRX9	OTTHUMG00000169356	ENST00000418543.3:c.69C>T	19.37:g.12780673C>T						WDR83OS_ENST00000596731.1_5'UTR|WDR83_ENST00000242796.4_Silent_p.C23C	p.C23C	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN			3	418	+			23					B2RAF1|Q53FT6	Silent	SNP	ENST00000418543.3	37	c.69C>T	CCDS12275.1																																																																																				0.617	WDR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403648.1	NM_032332		5	139	0	0	0	0.000602	0	5	139					T	12780673	C	T	12780673	2	4	404	1	0	0	0	0	0	0	0	1	17329	776	27	1		1	WDR83	19	12780673	Silent	SNP	C	TCGA-FE-A230-01A-11D-A14W-08		12780673	46348310	7	8315											
NLRP11	204801	broad.mit.edu	37	chr19	56320297	56320297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgagagcatccacaatcGtcttcacaaattcttcttcc	4	14	4	1	rs376879259		TCGA-FE-A230-01A-11D-A14W-08	TCGA-FE-A230-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b0a900-aaa3-4043-b959-8c31d3afa77f	0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8	g.chr19:56320297G>A	ENST00000589093.1	-	3	1772	c.1679C>T	c.(1678-1680)aCg>aTg	p.T560M	NLRP11_ENST00000592953.1_Missense_Mutation_p.T461M|NLRP11_ENST00000360133.3_Missense_Mutation_p.T560M|NLRP11_ENST00000443188.1_Missense_Mutation_p.T560M|NLRP11_ENST00000589824.2_Missense_Mutation_p.T560M			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	560							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ATCCACAATCGTCTTCACAAA	0.428																																						ENST00000443188.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66						c.(1678-1680)aCg>aTg		NLR family, pyrin domain containing 11		G	MET/THR	0,4406		0,0,2203	136	123	128		1679	-4.4	0.0	19		128	1,8599	1.2+/-3.3	0,1,4299	no	missense	NLRP11	NM_145007.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	560/1034	56320297	1,13005	2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56320297G>A	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"Nucleotide-binding domain and leucine rich repeat containing"	22945	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"	609664	"NACHT, leucine rich repeat and PYD containing 11"	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.1679C>T	19.37:g.56320297G>A	ENSP00000466285:p.Thr560Met					NLRP11_ENST00000589824.2_Missense_Mutation_p.T560M|NLRP11_ENST00000589093.1_Missense_Mutation_p.T560M|NLRP11_ENST00000360133.3_Missense_Mutation_p.T560M|NLRP11_ENST00000592953.1_Missense_Mutation_p.T461M	p.T560M	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	5	2389	-		Colorectal(82;0.0002)	560					C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.1679C>T	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	g	1.826	-0.471125	0.04445	0.0	1.16E-4	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.53206	0.63;0.63	2.2	-4.4	0.03600	.	.	.	.	.	T	0.15522	0.0374	N	0.02011	-0.69	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.09377	0.004;0.001	T	0.09596	-1.0667	9	0.45353	T	0.12	.	0.8415	0.01151	0.1632:0.2125:0.3341:0.2903	.	560;560	P59045;P59045-2	NAL11_HUMAN;.	M	560	ENSP00000409898:T560M;ENSP00000353251:T560M	ENSP00000353251:T560M	T	-	2	0	NLRP11	61012109	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.127000	0.03251	-1.576000	0.01652	-3.108000	0.00062	ACG		0.428	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		21	112	0	0	0	0.008871	0	21	112					A	56320297	G	A	56320297	3	1	404	1	0	0	0	0	1	0	0	0	10473	1145	40	1	1454	1	NLRP11	19	56320297	Missense_Mutation	SNP	G	TCGA-FE-A230-01A-11D-A14W-08	43539624	56320297	2808686	8	8316											
RASSF2	9770	broad.mit.edu	37	chr20	4776561	4776561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaggcgaatgggccggcGcaggccccaggagatgttca	16	12	1	1	rs201330263		TCGA-FE-A230-01A-11D-A14W-08	TCGA-FE-A230-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b0a900-aaa3-4043-b959-8c31d3afa77f	0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8	g.chr20:4776561G>A	ENST00000379400.3	-	5	382	c.187C>T	c.(187-189)Cgc>Tgc	p.R63C	RASSF2_ENST00000478553.1_5'Flank|RASSF2_ENST00000379376.2_Missense_Mutation_p.R63C	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	63					bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						ATGGGCCGGCGCAGGCCCCAG	0.592													G|||	1	0.000199681	0	0	5008	,	,		16476	0		0.001	False		,,,				2504	0				Melanoma(158;1891 3343 50738)	ENST00000379400.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						c.(187-189)Cgc>Tgc		Ras association (RalGDS/AF-6) domain family member 2							78	77	78					20																	4776561		2203	4300	6503	SO:0001583	missense	9770				cell cycle|signal transduction	nucleus	protein binding	g.chr20:4776561G>A	D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"centromere protein 34"	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.187C>T	20.37:g.4776561G>A	ENSP00000368710:p.Arg63Cys					RASSF2_ENST00000379376.2_Missense_Mutation_p.R63C	p.R63C	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN			5	382	-			63					A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Missense_Mutation	SNP	ENST00000379400.3	37	c.187C>T	CCDS13083.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	20.6	4.011201	0.75046	.	.	ENSG00000101265	ENST00000379400;ENST00000379376	T;T	0.30981	1.51;1.51	5.13	3.2	0.36748	.	0.162098	0.53938	N	0.000041	T	0.50616	0.1626	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	P	0.62885	0.908	T	0.51340	-0.8718	10	0.87932	D	0	.	5.5951	0.17323	0.165:0.0:0.6771:0.1579	.	63	P50749	RASF2_HUMAN	C	63	ENSP00000368710:R63C;ENSP00000368684:R63C	ENSP00000368684:R63C	R	-	1	0	RASSF2	4724561	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.337000	0.59310	0.750000	0.32877	0.563000	0.77884	CGC		0.592	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	NM_014737		4	69	0	0	0	0.009096	0	4	69					A	4776561	G	A	4776561	3	1	404	1	0	0	0	0	1	0	0	0	13086	1087	38	1	825	1	RASSF2	20	4776561	Missense_Mutation	SNP	G	TCGA-FE-A230-01A-11D-A14W-08		4776561	58248959	9	8317											
KRTAP10-4	386672	broad.mit.edu	37	chr21	45994590	45994590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagccagcagggctgctgcGtgcccgtctgctgcaagcct	13	14	1	0			TCGA-FE-A230-01A-11D-A14W-08	TCGA-FE-A230-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b0a900-aaa3-4043-b959-8c31d3afa77f	0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8	g.chr21:45994590G>A	ENST00000400374.3	+	1	985	c.955G>A	c.(955-957)Gtg>Atg	p.V319M	TSPEAR_ENST00000397916.1_5'Flank|TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	319	36 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						GGGCTGCTGCGTGCCCGTCTG	0.622																																						ENST00000400374.3																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						c.(955-957)Gtg>Atg		keratin associated protein 10-4							118	127	124					21																	45994590		2203	4300	6503	SO:0001583	missense	386672					keratin filament		g.chr21:45994590G>A	AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"Keratin associated proteins"	20521	protein-coding gene	gene with protein product			"keratin associated protein 18-4"	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.955G>A	21.37:g.45994590G>A	ENSP00000383225:p.Val319Met					TSPEAR_ENST00000323084.4_Intron	p.V319M	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN			1	985	+			319			36 X 5 AA repeats of C-C-X(3).		Q08AS0	Missense_Mutation	SNP	ENST00000400374.3	37	c.955G>A	CCDS42957.1	.	.	.	.	.	.	.	.	.	.	g	2.821	-0.244806	0.05906	.	.	ENSG00000215454	ENST00000400374;ENST00000334871	T	0.01438	4.89	3.89	-1.63	0.08345	.	.	.	.	.	T	0.02304	0.0071	M	0.88031	2.925	0.09310	N	1	P	0.39404	0.672	B	0.31495	0.131	T	0.28713	-1.0035	9	0.48119	T	0.1	.	4.5319	0.12010	0.4411:0.2747:0.2843:0.0	.	319	P60372	KR104_HUMAN	M	319;115	ENSP00000383225:V319M	ENSP00000333987:V115M	V	+	1	0	KRTAP10-4	44819018	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	-0.393000	0.07305	-0.023000	0.13963	-0.199000	0.12753	GTG		0.622	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687		7	214	0	0	0	0.001984	0	7	214					A	45994590	G	A	45994590	3	1	404	1	0	0	0	0	1	0	0	0	8511	1145	40	1	957	1	KRTAP10-4	21	45994590	Missense_Mutation	SNP	G	TCGA-FE-A230-01A-11D-A14W-08		45994590	2135305	10	8318											
RASAL2	9462	broad.mit.edu	37	chr1	178269183	178269183	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccaccaaagggcgatgcctGaggagaactgtcagtgtccc	12	12	1	2			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr1:178269183G>A	ENST00000367649.3	+	3	739	c.387G>A	c.(385-387)ctG>ctA	p.L129L	RASAL2_ENST00000465723.1_3'UTR|RASAL2_ENST00000448150.3_Silent_p.L111L			Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	0	PH.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GGCGATGCCTGAGGAGAACTG	0.473											OREG0014010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000448150.3																			0				biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(331-333)ctG>ctA		RAS protein activator like 2							79	83	82					1																	178269183		2203	4300	6503	SO:0001819	synonymous_variant	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178269183G>A	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"Pleckstrin homology (PH) domain containing"	9874	protein-coding gene	gene with protein product	"Ras GTPase activating protein-like", "Ras protein activator like 1"	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000367649.3:c.387G>A	1.37:g.178269183G>A			OREG0014010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1945	RASAL2_ENST00000367649.3_Silent_p.L129L|RASAL2_ENST00000465723.1_3'UTR	p.L111L	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN			3	1151	+			0			PH.		F8W755|O95174|Q2TB22|Q5TFU9	Silent	SNP	ENST00000367649.3	37	c.333G>A	CCDS1321.2																																																																																				0.473	RASAL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352415.1	NM_170692		4	84	0	0	0	0.014758	0	4	84					A	178269183	G	A	178269183	2	1	405	1	0	0	0	0	0	0	0	1	13064	1277	45	2		2	RASAL2	1	178269183	Silent	SNP	G	TCGA-FE-A231-01A-11D-A14W-08		178269183	70981438	1	8319											
ABCG8	64241	broad.mit.edu	37	chr2	44104811	44104811	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcgggaacctcaccatcgCggtctcaggagataaagtaa	10	11	3	1			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr2:44104811C>A	ENST00000272286.2	+	12	1958	c.1868C>A	c.(1867-1869)gCg>gAg	p.A623E		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	623	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CTCACCATCGCGGTCTCAGGA	0.498											OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000272286.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(1867-1869)gCg>gAg		ATP-binding cassette, sub-family G (WHITE), member 8							95	99	98					2																	44104811		2203	4300	6503	SO:0001583	missense	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44104811C>A	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"ATP binding cassette transporters / subfamily G"	13887	protein-coding gene	gene with protein product	"gallbladder disease 4", "sterolin 2"	605460	"ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1868C>A	2.37:g.44104811C>A	ENSP00000272286:p.Ala623Glu		OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	921		p.A623E	NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN			12	1958	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	623			ABC transmembrane type-2.		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.1868C>A	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	C	0.071	-1.202609	0.01581	.	.	ENSG00000143921	ENST00000272286	T	0.17370	2.28	5.29	1.43	0.22495	.	1.567770	0.03133	N	0.165405	T	0.06554	0.0168	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29731	-1.0002	10	0.02654	T	1	.	3.7511	0.08566	0.1292:0.509:0.2246:0.1371	.	622;623	Q9H221-2;Q9H221	.;ABCG8_HUMAN	E	623	ENSP00000272286:A623E	ENSP00000272286:A623E	A	+	2	0	ABCG8	43958315	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.677000	0.25262	-0.012000	0.14223	-0.218000	0.12543	GCG		0.498	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		40	71	1	0	1.47244e-24	0.086207	1.88657e-24	40	71					A	44104811	C	A	44104811	3	1	405	1	0	0	0	0	1	0	0	0	72	768	27	4	1914	4	ABCG8	2	44104811	Missense_Mutation	SNP	C	TCGA-FE-A231-01A-11D-A14W-08		44104811	199094562	2	8320											
ING5	84289	broad.mit.edu	37	chr2	242662663	242662664	+	Frame_Shift_Ins	INS	-	-	AG													actttgcctgcgtggaccttINSaccacgaaacccaaaggaaa							TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr2:242662663_242662664insAG	ENST00000313552.6	+	7	683_684	c.657_658insAG	c.(658-660)accfs	p.T220fs	ING5_ENST00000406941.1_Frame_Shift_Ins_p.T220fs|AC114730.11_ENST00000435195.1_RNA	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	220					chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|skin(1)	3		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;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GCGTGGACCTTACCACGAAACC	0.525																																						ENST00000313552.6																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(655-660)ctccacfs		inhibitor of growth family, member 5																																				SO:0001589	frameshift_variant	84289				DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr2:242662663_242662664insAG	AF189286	CCDS33425.1	2q37.3	2013-01-28			ENSG00000168395	ENSG00000168395		"Zinc fingers, PHD-type"	19421	protein-coding gene	gene with protein product		608525				12750254	Standard	NM_032329		Approved	FLJ23842, p28ING5	uc002wcd.3	Q8WYH8	OTTHUMG00000151501	Exception_encountered	2.37:g.242662663_242662664insAG	ENSP00000322142:p.Thr220fs					ING5_ENST00000406941.1_Frame_Shift_Ins_p.H220fs	p.H220fs	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)	7	683_684	+		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)	220					A8K1P3|Q53NU6|Q57Z54|Q9BS30	Frame_Shift_Ins	INS	ENST00000313552.6	37	c.657_658insAG	CCDS33425.1																																																																																				0.525	ING5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322901.3	NM_032329		25	314						25	314	---	---	---	---	AG	242662664	-	AG	242662663	7	5	405	1	0	1	1	0	0	0	0	0	7739	1741	61	0	683	0	ING5	2	242662663	Frame_Shift_Ins	INS	-	TCGA-FE-A231-01A-11D-A14W-08	198557852	242662663	536710	3	8321											
SLC9A9	285195	broad.mit.edu	37	chr3	143513887	143513887	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcccaagaaggcatacgtTaaaatagatcctaagttttg	8	7	0	2			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr3:143513887T>G	ENST00000316549.6	-	4	697	c.489A>C	c.(487-489)ttA>ttC	p.L163F		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	163					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						AGGCATACGTTAAAATAGATC	0.388																																						ENST00000316549.6																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						c.(487-489)ttA>ttC		solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9							101	96	98					3																	143513887		2203	4300	6503	SO:0001583	missense	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:143513887T>G	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"Solute carriers"	20653	protein-coding gene	gene with protein product		608396	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 9", "solute carrier family 9 (sodium/hydrogen exchanger), member 9"			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.489A>C	3.37:g.143513887T>G	ENSP00000320246:p.Leu163Phe						p.L163F	NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN			4	697	-			163					A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	ENST00000316549.6	37	c.489A>C	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.012505	0.75161	.	.	ENSG00000181804	ENST00000316549;ENST00000450105;ENST00000474151	T;D	0.83591	2.21;-1.74	6.07	0.858	0.19030	Cation/H+ exchanger (1);	0.000000	0.56097	D	0.000030	D	0.89171	0.6639	M	0.87180	2.865	0.49299	D	0.999774	D	0.89917	1.0	D	0.77557	0.99	D	0.85786	0.1364	10	0.59425	D	0.04	.	5.3861	0.16218	0.0:0.296:0.1405:0.5636	.	163	Q8IVB4	SL9A9_HUMAN	F	163;46;137	ENSP00000320246:L163F;ENSP00000418627:L137F	ENSP00000320246:L163F	L	-	3	2	SLC9A9	144996577	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.794000	0.26958	0.195000	0.20347	-0.263000	0.10527	TTA		0.388	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		4	52	0	0	0	0.014758	0	4	52					G	143513887	T	G	143513887	3	3	405	1	0	0	0	0	1	0	0	0	14721	1751	61	5	1500	5	SLC9A9	3	143513887	Missense_Mutation	SNP	T	TCGA-FE-A231-01A-11D-A14W-08		143513887	54508543	4	8322											
CTBP1	1487	broad.mit.edu	37	chr4	1206720	1206720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctataggcagccccattgaGctcagggtgcacgacggcgg	14	13	1	1			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr4:1206720G>A	ENST00000290921.6	-	8	1301	c.1120C>T	c.(1120-1122)Ctc>Ttc	p.L374F	CTBP1_ENST00000382952.3_Missense_Mutation_p.L363F	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	374					Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		GCCCCATTGAGCTCAGGGTGC	0.662																																						ENST00000382952.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8						c.(1087-1089)Ctc>Ttc		C-terminal binding protein 1							63	61	62					4																	1206720		2201	4300	6501	SO:0001583	missense	1487				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding	g.chr4:1206720G>A	U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"brefeldin A-ribosylated substrate"	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259	ENST00000290921.6:c.1120C>T	4.37:g.1206720G>A	ENSP00000290921:p.Leu374Phe					CTBP1_ENST00000290921.6_Missense_Mutation_p.L374F	p.L363F	NM_001012614.1	NP_001012632.1	Q13363	CTBP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)	9	1471	-			374					Q4W5N3|Q7Z2Q5	Missense_Mutation	SNP	ENST00000290921.6	37	c.1087C>T	CCDS3348.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.6|26.6	4.754616|4.754616	0.89843|0.89843	.|.	.|.	ENSG00000159692|ENSG00000159692	ENST00000503594;ENST00000504092|ENST00000382952;ENST00000290921	.|D;D	.|0.84442	.|-1.84;-1.85	4.34|4.34	4.34|4.34	0.51931|0.51931	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91092|0.91092	0.7196|0.7196	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	.|D;D;P	.|0.69078	.|0.997;0.957;0.923	.|D;P;P	.|0.75484	.|0.986;0.695;0.695	D|D	0.91363|0.91363	0.5113|0.5113	5|10	.|0.46703	.|T	.|0.11	-36.2252|-36.2252	16.8689|16.8689	0.86036|0.86036	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|160;374;363	.|Q6IP95;Q13363;Q7Z2Q5	.|.;CTBP1_HUMAN;.	V|F	116;220|363;374	.|ENSP00000372411:L363F;ENSP00000290921:L374F	.|ENSP00000290921:L374F	A|L	-|-	2|1	0|0	CTBP1|CTBP1	1196720|1196720	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.955000|0.955000	0.61496|0.61496	8.892000|8.892000	0.92491|0.92491	1.965000|1.965000	0.57142|0.57142	0.561000|0.561000	0.74099|0.74099	GCT|CTC		0.662	CTBP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000202938.1	NM_001328		3	63	0	0	0	0.004672	0	3	63					A	1206720	G	A	1206720	3	1	405	1	0	0	0	0	1	0	0	0	3997	971	34	2	210	2	CTBP1	4	1206720	Missense_Mutation	SNP	G	TCGA-FE-A231-01A-11D-A14W-08		1206720	189947556	5	8323											
ADAMTS2	9509	broad.mit.edu	37	chr5	178555009	178555009	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttcttcagggcccactcGtagaccacagagtcctcttc	7	16	3	2			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr5:178555009G>A	ENST00000251582.7	-	17	2669	c.2568C>T	c.(2566-2568)taC>taT	p.Y856Y		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	856	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Y856Y(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGGCCCACTCGTAGACCACAG	0.582																																						ENST00000251582.7																			1	Substitution - coding silent(1)	p.Y856Y(1)	pancreas(1)	breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(2566-2568)taC>taT		ADAM metallopeptidase with thrombospondin type 1 motif, 2							194	160	172					5																	178555009		2203	4300	6503	SO:0001819	synonymous_variant	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178555009G>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2568C>T	5.37:g.178555009G>A							p.Y856Y	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	17	2669	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	856			TSP type-1 2.			Silent	SNP	ENST00000251582.7	37	c.2568C>T	CCDS4444.1																																																																																				0.582	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		60	63	0	0	0	0.048971	0	60	63					A	178555009	G	A	178555009	2	1	405	1	0	0	0	0	0	0	0	1	265	1140	40	1		1	ADAMTS2	5	178555009	Silent	SNP	G	TCGA-FE-A231-01A-11D-A14W-08		178555009	2360251	6	8324											
POM121C	100101267	broad.mit.edu	37	chr7	75066953	75066953	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagaattgaggcctctcttcAgagacccaggcctaataaaa	9	10	2	3			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr7:75066953A>G	ENST00000257665.5	-	5	1045	c.1046T>C	c.(1045-1047)cTg>cCg	p.L349P	POM121C_ENST00000453279.2_Missense_Mutation_p.L107P|POM121C_ENST00000473168.1_5'Flank			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	349	Pore side. {ECO:0000255}.|Required for targeting to the nucleus and nuclear pore complex.|Ser-rich.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						GCCTCTCTTCAGAGACCCAGG	0.433																																						ENST00000453279.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(319-321)cTg>cCg		POM121 transmembrane nucleoporin C							50	55	54					7																	75066953		2202	4297	6499	SO:0001583	missense	100101267				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	g.chr7:75066953A>G		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"POM121 membrane glycoprotein C"			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.1046T>C	7.37:g.75066953A>G	ENSP00000257665:p.Leu349Pro					POM121C_ENST00000257665.5_Missense_Mutation_p.L349P	p.L107P	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN			7	1184	-			349			Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.		O75115|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000257665.5	37	c.320T>C		.	.	.	.	.	.	.	.	.	.	A	16.46	3.130590	0.56828	.	.	ENSG00000135213	ENST00000257665;ENST00000453279	T;T	0.59502	0.26;0.26	4.17	4.17	0.49024	.	0.000000	0.32769	N	0.005675	T	0.76321	0.3971	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80139	-0.1507	10	0.87932	D	0	.	11.2716	0.49142	1.0:0.0:0.0:0.0	.	349	A8CG34	P121C_HUMAN	P	349;107	ENSP00000257665:L349P;ENSP00000414208:L107P	ENSP00000257665:L349P	L	-	2	0	POM121C	74904889	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	7.167000	0.77562	1.668000	0.50843	0.413000	0.27773	CTG		0.433	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		3	88	0	0	0	0.004672	0	3	88					G	75066953	A	G	75066953	3	3	405	1	0	0	0	0	1	0	0	0	12240	188	7	3	2679	3	POM121C	7	75066953	Missense_Mutation	SNP	A	TCGA-FE-A231-01A-11D-A14W-08		75066953	84071710	7	8325											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		27	35	0	0	0	0.030593	0	27	35					T	140453136	A	T	140453136	3	4	405	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FE-A231-01A-11D-A14W-08	65386183	140453136	18685527	8	8326											
TRPA1	8989	broad.mit.edu	37	chr8	72946042	72946042	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtctggattatagaaagcAatggagagctgaagggatcc	14	5	1	3			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr8:72946042A>G	ENST00000262209.4	-	23	2912	c.2705T>C	c.(2704-2706)tTg>tCg	p.L902S	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|TRPA1_ENST00000519720.1_5'Flank|RP11-383H13.1_ENST00000524152.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	902					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TATAGAAAGCAATGGAGAGCT	0.393																																						ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(2704-2706)tTg>tCg		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)						83	78	80					8																	72946042		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72946042A>G	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2705T>C	8.37:g.72946042A>G	ENSP00000262209:p.Leu902Ser					RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron	p.L902S	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		23	2912	-			902					A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.2705T>C	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	A	0.173	-1.069694	0.01918	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.31510	1.49;1.49	5.26	0.258	0.15578	Ion transport (1);	1.195530	0.05703	N	0.594553	T	0.20981	0.0505	L	0.37750	1.13	0.09310	N	1	B	0.32717	0.381	B	0.35240	0.198	T	0.25641	-1.0126	10	0.21540	T	0.41	-0.6474	0.6426	0.00813	0.4424:0.1226:0.2016:0.2333	.	902	O75762	TRPA1_HUMAN	S	754;902	ENSP00000428151:L754S;ENSP00000262209:L902S	ENSP00000262209:L902S	L	-	2	0	TRPA1	73108596	0.002000	0.14202	0.040000	0.18447	0.115000	0.19883	1.311000	0.33562	0.305000	0.22832	-0.435000	0.05868	TTG		0.393	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		14	26	0	0	0	0.024245	0	14	26					G	72946042	A	G	72946042	3	3	405	1	0	0	0	0	1	0	0	0	16574	131	5	3	674	3	TRPA1	8	72946042	Missense_Mutation	SNP	A	TCGA-FE-A231-01A-11D-A14W-08		72946042	73417980	9	8327											
RRP8	23378	broad.mit.edu	37	chr11	6622217	6622217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagtcaaagcaatgcacaGggttccggatacttgaagcc	10	11	1	1			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr11:6622217G>A	ENST00000254605.6	-	4	1103	c.986C>T	c.(985-987)cCt>cTt	p.P329L	ILK_ENST00000528995.1_5'Flank|RRP8_ENST00000534343.1_Intron|ILK_ENST00000396751.2_5'Flank|ILK_ENST00000299421.4_5'Flank|RP11-732A19.8_ENST00000527191.1_RNA|ILK_ENST00000537806.1_5'Flank|ILK_ENST00000420936.2_5'Flank	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	329			P -> S (in dbSNP:rs17834692).		cellular response to glucose starvation (GO:0042149)|chromatin modification (GO:0016568)|chromatin silencing at rDNA (GO:0000183)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription by glucose (GO:0046015)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|rDNA heterochromatin (GO:0033553)	methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						GCAATGCACAGGGTTCCGGAT	0.547																																						ENST00000254605.6																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						c.(985-987)cCt>cTt		ribosomal RNA processing 8, methyltransferase, homolog (yeast)							104	103	103					11																	6622217		2201	4296	6497	SO:0001583	missense	23378				chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity	g.chr11:6622217G>A	AB007869	CCDS31411.1	11p15.4	2009-02-23	2009-02-23	2009-02-23	ENSG00000132275	ENSG00000132275			29030	protein-coding gene	gene with protein product	RRP8 methyltransferase homolog (S. cerevisiae)	615818	"KIAA0409"	KIAA0409		9455477	Standard	NM_015324		Approved		uc001med.3	O43159		ENST00000254605.6:c.986C>T	11.37:g.6622217G>A	ENSP00000254605:p.Pro329Leu					RRP8_ENST00000534343.1_Intron	p.P329L	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN			4	1103	-			329		P -> S (in dbSNP:rs17834692).			Q7KZ78|Q9BVM6	Missense_Mutation	SNP	ENST00000254605.6	37	c.986C>T	CCDS31411.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.525205	0.44969	.	.	ENSG00000132275	ENST00000254605	T	0.40476	1.03	5.41	5.41	0.78517	.	0.387563	0.27500	N	0.019093	T	0.24967	0.0606	N	0.05031	-0.125	0.80722	D	1	B	0.31879	0.344	B	0.32342	0.144	T	0.13764	-1.0497	10	0.52906	T	0.07	0.8153	13.8153	0.63287	0.0:0.0:0.8371:0.1629	.	329	O43159	RRP8_HUMAN	L	329	ENSP00000254605:P329L	ENSP00000254605:P329L	P	-	2	0	RRP8	6578793	0.971000	0.33674	1.000000	0.80357	0.997000	0.91878	1.165000	0.31822	2.808000	0.96608	0.655000	0.94253	CCT		0.547	RRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384505.1	NM_015324		7	75	0	0	0	0.02938	0	7	75					A	6622217	G	A	6622217	3	1	405	1	0	0	0	0	1	0	0	0	13690	1000	35	2	400	2	RRP8	11	6622217	Missense_Mutation	SNP	G	TCGA-FE-A231-01A-11D-A14W-08		6622217	128384299	10	8328											
PRDX5	25824	broad.mit.edu	37	chr11	64085693	64085693	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccgtggggcgggtatgggActagctggcgtgtgcgccct	20	10	0	0			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr11:64085693A>C	ENST00000265462.4	+	1	134	c.6A>C	c.(4-6)ggA>ggC	p.G2G	TRMT112_ENST00000544844.1_5'Flank|TRMT112_ENST00000308774.2_5'Flank|TRMT112_ENST00000539854.1_5'Flank|PRDX5_ENST00000347941.4_Silent_p.G2G|TRMT112_ENST00000535750.1_5'Flank|TRMT112_ENST00000535126.1_5'Flank|PRDX5_ENST00000352435.4_Silent_p.G2G	NM_012094.4	NP_036226	P30044	PRDX5_HUMAN	peroxiredoxin 5	2					cellular response to reactive oxygen species (GO:0034614)|hydrogen peroxide catabolic process (GO:0042744)|inflammatory response (GO:0006954)|NADPH oxidation (GO:0070995)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|positive regulation of collagen biosynthetic process (GO:0032967)|reactive nitrogen species metabolic process (GO:2001057)|regulation of apoptosis involved in tissue homeostasis (GO:0060785)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	antioxidant activity (GO:0016209)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|peroxidase activity (GO:0004601)|peroxiredoxin activity (GO:0051920)|peroxynitrite reductase activity (GO:0072541)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase III regulatory region DNA binding (GO:0001016)			breast(1)|kidney(1)|lung(1)|skin(1)	4					Auranofin(DB00995)	CGGGTATGGGACTAGCTGGCG	0.697																																						ENST00000265462.4																			0				breast(1)|kidney(1)|lung(1)|skin(1)	4						c.(4-6)ggA>ggC		peroxiredoxin 5	Auranofin(DB00995)						28	31	30					11																	64085693		2200	4296	6496	SO:0001819	synonymous_variant	25824				cell redox homeostasis|cellular response to reactive oxygen species|inflammatory response|negative regulation of apoptosis	cytosolic part|mitochondrion|peroxisome	caspase inhibitor activity|peroxidase activity|peroxiredoxin activity	g.chr11:64085693A>C	AF197952	CCDS8069.1, CCDS8070.1, CCDS8071.1	11q13	2008-07-21			ENSG00000126432	ENSG00000126432			9355	protein-coding gene	gene with protein product	"antioxidant enzyme B166", "thioredoxin peroxidase PMP20", "peroxisomal antioxidant enzyme", "TPx type VI", "liver tissue 2D-page spot 71B", "Alu co-repressor 1"	606583				10514471, 10521424	Standard	NM_012094		Approved	ACR1, AOEB166, MGC142285, PRXV, PMP20, B166, PRDX6, PLP, SBBI10, MGC117264, MGC142283	uc001nzu.3	P30044	OTTHUMG00000168805	ENST00000265462.4:c.6A>C	11.37:g.64085693A>C						PRDX5_ENST00000352435.4_Silent_p.G2G|PRDX5_ENST00000347941.4_Silent_p.G2G	p.G2G	NM_012094.4	NP_036226.1	P30044	PRDX5_HUMAN			1	134	+			2					A6NC19|A6NG06|B7ZLJ4|B7ZVW3|Q14CK0|Q6IAF2|Q9UBU5|Q9UJU4|Q9UKX4	Silent	SNP	ENST00000265462.4	37	c.6A>C	CCDS8069.1																																																																																				0.697	PRDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401148.1	NM_181651		11	20	0	0	0	0.105934	0	11	20					C	64085693	A	C	64085693	2	2	405	1	0	0	0	0	0	0	0	1	12468	262	10	5		5	PRDX5	11	64085693	Silent	SNP	A	TCGA-FE-A231-01A-11D-A14W-08	57463476	64085693	70920823	11	8329											
NDUFS8	4728	broad.mit.edu	37	chr11	67800677	67800677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcttccgtggggagcatgCgctgcgccggtacccatccg	14	15	0	0			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr11:67800677C>T	ENST00000313468.5	+	5	406	c.299C>T	c.(298-300)gCg>gTg	p.A100V	RP5-901A4.1_ENST00000532296.1_RNA|NDUFS8_ENST00000528492.1_Intron|MIR4691_ENST00000583764.1_RNA	NM_002496.3	NP_002487.1	O00217	NDUS8_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)	100					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|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)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|kidney(1)|lung(5)|skin(1)	8						GGGGAGCATGCGCTGCGCCGG	0.687																																					Colon(116;1205 2770 20054)	ENST00000313468.5																			0				endometrium(1)|kidney(1)|lung(5)|skin(1)	8						c.(298-300)gCg>gTg		NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						36	35	36					11																	67800677		2200	4294	6494	SO:0001583	missense	4728				mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity	g.chr11:67800677C>T	U65579	CCDS8176.1	11q13.2	2011-07-04	2002-08-29		ENSG00000110717	ENSG00000110717	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7715	protein-coding gene	gene with protein product	"complex I 23kDa subunit", "NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial"	602141	"NADH dehydrogenase (ubiquinone) Fe-S protein 8 (23kD) (NADH-coenzyme Q reductase)"			9666055, 9116042	Standard	NM_002496		Approved	TYKY, CI-23k	uc001onc.3	O00217	OTTHUMG00000167331	ENST00000313468.5:c.299C>T	11.37:g.67800677C>T	ENSP00000315774:p.Ala100Val					NDUFS8_ENST00000528492.1_Intron	p.A100V	NM_002496.3	NP_002487.1	O00217	NDUS8_HUMAN			5	406	+			100					B2RB86|Q0VDA8	Missense_Mutation	SNP	ENST00000313468.5	37	c.299C>T	CCDS8176.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846900	0.51164	.	.	ENSG00000110717	ENST00000313468;ENST00000453471;ENST00000526339;ENST00000525419;ENST00000525628	D;D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44;-3.44	4.62	4.62	0.57501	Fumarate reductase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95937	0.8677	L	0.48642	1.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.988	D;D;P	0.91635	0.998;0.999;0.604	D	0.96351	0.9258	10	0.66056	D	0.02	.	16.2043	0.82114	0.0:1.0:0.0:0.0	.	100;100;100	B4DYI3;E9PPW7;O00217	.;.;NDUS8_HUMAN	V	100;100;100;82;100	ENSP00000315774:A100V;ENSP00000403972:A100V;ENSP00000436287:A100V;ENSP00000433521:A82V;ENSP00000432968:A100V	ENSP00000315774:A100V	A	+	2	0	NDUFS8	67557253	1.000000	0.71417	0.230000	0.23976	0.012000	0.07955	7.354000	0.79424	2.386000	0.81285	0.561000	0.74099	GCG		0.687	NDUFS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394193.1	NM_002496		3	24	0	0	0	0.004672	0	3	24					T	67800677	C	T	67800677	3	4	405	1	0	0	0	0	1	0	0	0	10298	768	27	1	313	1	NDUFS8	11	67800677	Missense_Mutation	SNP	C	TCGA-FE-A231-01A-11D-A14W-08	3714984	67800677	67205839	12	8330											
MIPOL1	145282	broad.mit.edu	37	chr14	37838730	37838730	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctgtggcagtgcaaacgGttagagcaggagcttcatca	12	11	2	1			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr14:37838730G>A	ENST00000327441.7	+	11	1303	c.837G>A	c.(835-837)cgG>cgA	p.R279R	MIPOL1_ENST00000537471.1_Silent_p.R279R|MIPOL1_ENST00000536774.1_Silent_p.R98R|MIPOL1_ENST00000396294.2_Silent_p.R279R|MIPOL1_ENST00000539062.2_Silent_p.R248R|MIPOL1_ENST00000556451.1_Silent_p.R248R|MIPOL1_ENST00000545536.1_Silent_p.R248R	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	279						nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		AGTGCAAACGGTTAGAGCAGG	0.393																																						ENST00000327441.7																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(835-837)cgG>cgA		mirror-image polydactyly 1							114	107	109					14																	37838730		2203	4300	6503	SO:0001819	synonymous_variant	145282							g.chr14:37838730G>A	AY059470	CCDS9664.1	14q13.3	2010-05-25			ENSG00000151338	ENSG00000151338			21460	protein-coding gene	gene with protein product		606850				11954550, 19667180	Standard	NM_001195296		Approved		uc001wuc.3	Q8TD10	OTTHUMG00000140252	ENST00000327441.7:c.837G>A	14.37:g.37838730G>A						MIPOL1_ENST00000536774.1_Silent_p.R98R|MIPOL1_ENST00000539062.2_Silent_p.R248R|MIPOL1_ENST00000537471.1_Silent_p.R279R|MIPOL1_ENST00000396294.2_Silent_p.R279R|MIPOL1_ENST00000556451.1_Silent_p.R248R|MIPOL1_ENST00000545536.1_Silent_p.R248R	p.R279R	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)	11	1303	+	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		279					D3DSA4|Q7Z3J0|Q8IV14	Silent	SNP	ENST00000327441.7	37	c.837G>A	CCDS9664.1																																																																																				0.393	MIPOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276734.1	NM_138731		3	42	0	0	0	0.009096	0	3	42					A	37838730	G	A	37838730	2	1	405	1	0	0	0	0	0	0	0	1	9593	1248	44	2		2	MIPOL1	14	37838730	Silent	SNP	G	TCGA-FE-A231-01A-11D-A14W-08		37838730	69510810	13	8331											
TLN2	83660	broad.mit.edu	37	chr15	62995030	62995030	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agtggggatcttctgagacaGattggagagaatgagactga	15	4	2	5			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr15:62995030G>C	ENST00000561311.1	+	18	2201	c.1971G>C	c.(1969-1971)caG>caC	p.Q657H	TLN2_ENST00000306829.6_Missense_Mutation_p.Q657H			Q9Y4G6	TLN2_HUMAN	talin 2	657					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TTCTGAGACAGATTGGAGAGA	0.468																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(1969-1971)caG>caC		talin 2							127	116	120					15																	62995030		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:62995030G>C	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.1971G>C	15.37:g.62995030G>C	ENSP00000453508:p.Gln657His					TLN2_ENST00000306829.6_Missense_Mutation_p.Q657H	p.Q657H			Q9Y4G6	TLN2_HUMAN			18	2201	+			657					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.1971G>C	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.317870	0.23994	.	.	ENSG00000171914	ENST00000306829	T	0.67523	-0.27	5.65	5.65	0.86999	Talin, central (1);	0.100336	0.64402	D	0.000001	T	0.54565	0.1866	L	0.31926	0.97	0.54753	D	0.99998	B	0.02656	0.0	B	0.04013	0.001	T	0.48019	-0.9071	10	0.15066	T	0.55	-19.4703	15.225	0.73345	0.0692:0.0:0.9308:0.0	.	657	Q9Y4G6	TLN2_HUMAN	H	657	ENSP00000303476:Q657H	ENSP00000303476:Q657H	Q	+	3	2	TLN2	60782322	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.401000	0.52601	2.824000	0.97209	0.655000	0.94253	CAG		0.468	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			29	31	0	0	0	0.034045	0	29	31					C	62995030	G	C	62995030	3	2	405	1	0	0	0	0	1	0	0	0	15945	933	33	4	2033	4	TLN2	15	62995030	Missense_Mutation	SNP	G	TCGA-FE-A231-01A-11D-A14W-08		62995030	39536362	14	8332											
C16orf48	84080	broad.mit.edu	37	chr16	67697198	67697198	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccccagcaggcagcagtaCcagctcacgcagcagctggc	12	16	1	0	rs138813287	byFrequency	TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr16:67697198C>T	ENST00000243878.4	-	7	1228	c.907G>A	c.(907-909)Gta>Ata	p.V303I	ENKD1_ENST00000602409.1_5'Flank|ACD_ENST00000393919.4_5'Flank|ACD_ENST00000219251.8_5'Flank|ENKD1_ENST00000602644.1_3'UTR	NM_032140.1	NP_115516.1	Q9H0I2	ENKD1_HUMAN	enkurin domain containing 1	303	Enkurin. {ECO:0000255|PROSITE- ProRule:PRU01000}.					cytoplasmic microtubule (GO:0005881)|microtubule cytoskeleton (GO:0015630)											GGCAGCAGTACCAGCTCACGC	0.652																																						ENST00000243878.4																			0											c.(907-909)Gta>Ata		enkurin domain containing 1		C	ILE/VAL	0,4396		0,0,2198	68	67	68		907	1.9	0.8	16	dbSNP_134	68	2,8598	2.2+/-6.3	0,2,4298	yes	missense	C16orf48	NM_032140.1	29	0,2,6496	TT,TC,CC		0.0233,0.0,0.0154	benign	303/347	67697198	2,12994	2198	4300	6498	SO:0001583	missense	84080							g.chr16:67697198C>T	BC008284	CCDS10844.1	16q22.1	2012-10-09	2012-10-09	2012-10-09	ENSG00000124074	ENSG00000124074			25246	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 48"	C16orf48		11230166	Standard	NM_032140		Approved	DKFZP434A1319	uc002etw.1	Q9H0I2	OTTHUMG00000137550	ENST00000243878.4:c.907G>A	16.37:g.67697198C>T	ENSP00000243878:p.Val303Ile					ENKD1_ENST00000602644.1_3'UTR	p.V303I	NM_032140.1	NP_115516.1					7	1228	-								Q6UWD7	Missense_Mutation	SNP	ENST00000243878.4	37	c.907G>A	CCDS10844.1	.	.	.	.	.	.	.	.	.	.	C	9.504	1.103865	0.20632	0.0	2.33E-4	ENSG00000124074	ENST00000243878	.	.	.	5.07	1.92	0.25849	.	0.495536	0.21489	N	0.073701	T	0.28699	0.0711	L	0.51422	1.61	0.29132	N	0.879609	B;B	0.17268	0.009;0.021	B;B	0.15484	0.011;0.013	T	0.17868	-1.0355	9	0.29301	T	0.29	-7.1821	1.1851	0.01854	0.1787:0.4316:0.1238:0.2659	.	303;185	Q9H0I2;Q9H0I2-2	CP048_HUMAN;.	I	303	.	ENSP00000243878:V303I	V	-	1	0	C16orf48	66254699	0.118000	0.22208	0.840000	0.33206	0.982000	0.71751	0.525000	0.22956	0.130000	0.18549	-0.291000	0.09656	GTA		0.652	ENKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268884.1	NM_032140		28	92	0	0	0	0.045705	0	28	92					T	67697198	C	T	67697198	3	4	405	1	0	0	0	0	1	0	0	0	1816	507	18	2	137	2	C16orf48	16	67697198	Missense_Mutation	SNP	C	TCGA-FE-A231-01A-11D-A14W-08		67697198	22657555	15	8333											
ATP2C2	9914	broad.mit.edu	37	chr16	84456271	84456271	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggggaaagctctcagttcGgagaagtgtttaagatgatg	14	5	1	3	rs201615601		TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr16:84456271G>A	ENST00000262429.4	+	9	900	c.811G>A	c.(811-813)Gga>Aga	p.G271R	ATP2C2_ENST00000416219.2_Missense_Mutation_p.G271R|ATP2C2_ENST00000420010.2_3'UTR	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	271					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CTCTCAGTTCGGAGAAGTGTT	0.502																																						ENST00000416219.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						c.(811-813)Gga>Aga		ATPase, Ca++ transporting, type 2C, member 2		G	ARG/GLY	4,3762		0,4,1879	196	196	196		811	5.2	1.0	16		196	0,8224		0,0,4112	yes	missense	ATP2C2	NM_014861.2	125	0,4,5991	AA,AG,GG		0.0,0.1062,0.0334	probably-damaging	271/947	84456271	4,11986	1883	4112	5995	SO:0001583	missense	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84456271G>A	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"ATPases / P-type"	29103	protein-coding gene	gene with protein product	"secretory pathway calcium ATPase 2"	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.811G>A	16.37:g.84456271G>A	ENSP00000262429:p.Gly271Arg					ATP2C2_ENST00000262429.4_Missense_Mutation_p.G271R|ATP2C2_ENST00000420010.2_3'UTR	p.G271R			O75185	AT2C2_HUMAN			9	900	+			271					B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	ENST00000262429.4	37	c.811G>A	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.992945	0.93167	0.001062	0.0	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	D;D	0.93189	-3.18;-3.18	5.16	5.16	0.70880	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.64402	D	0.000004	D	0.98648	0.9547	H	0.99944	5.01	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	0.99445	1.0939	10	0.87932	D	0	.	17.1945	0.86888	0.0:0.0:1.0:0.0	.	271;120;288;271	E7ES94;F8WAA5;O75185-2;O75185	.;.;.;AT2C2_HUMAN	R	271;271;120	ENSP00000397925:G271R;ENSP00000262429:G271R	ENSP00000262429:G271R	G	+	1	0	ATP2C2	83013772	1.000000	0.71417	0.971000	0.41717	0.905000	0.53344	9.201000	0.95017	2.381000	0.81170	0.650000	0.86243	GGA		0.502	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		31	259	0	0	0	0.054565	0	31	259					A	84456271	G	A	84456271	3	1	405	1	0	0	0	0	1	0	0	0	1144	1117	39	1	845	1	ATP2C2	16	84456271	Missense_Mutation	SNP	G	TCGA-FE-A231-01A-11D-A14W-08	16759073	84456271	5898482	16	8334											
QRICH2	84074	broad.mit.edu	37	chr17	74288474	74288474	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggttgtgccaaaccatgCtgatccactccaggttggac	10	13	0	1			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr17:74288474C>T	ENST00000262765.5	-	4	2015	c.1836G>A	c.(1834-1836)caG>caA	p.Q612Q		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	612	Gln-rich.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CCAAACCATGCTGATCCACTC	0.537																																						ENST00000262765.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						c.(1834-1836)caG>caA		glutamine rich 2							153	126	135					17																	74288474		2203	4300	6503	SO:0001819	synonymous_variant	84074						protein binding	g.chr17:74288474C>T	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.1836G>A	17.37:g.74288474C>T							p.Q612Q	NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN			4	2015	-			612			Gln-rich.		A2RRE1|Q96LM3	Silent	SNP	ENST00000262765.5	37	c.1836G>A	CCDS32741.1																																																																																				0.537	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		3	57	0	0	0	0.004672	0	3	57					T	74288474	C	T	74288474	2	4	405	1	0	0	0	0	0	0	0	1	12880	796	28	2		2	QRICH2	17	74288474	Silent	SNP	C	TCGA-FE-A231-01A-11D-A14W-08		74288474	6906736	17	8335											
STAP2	55620	broad.mit.edu	37	chr19	4329963	4329963	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcgggacactcacgagggTgtctccagtgcacggcgcgc	16	13	2	0	rs368477188		TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr19:4329963T>G	ENST00000594605.1	-	5	573	c.450A>C	c.(448-450)acA>acC	p.T150T	STAP2_ENST00000600324.1_Silent_p.T150T|STAP2_ENST00000597593.1_5'Flank	NM_001013841.1	NP_001013863.1	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	150	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.					cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCACGAGGGTGTCTCCAGTG	0.642																																						ENST00000600324.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23						c.(448-450)acA>acC		signal transducing adaptor family member 2							64	51	55					19																	4329963		2203	4300	6503	SO:0001819	synonymous_variant	55620					cytoplasm|nucleus	protein binding	g.chr19:4329963T>G	AJ245719	CCDS12128.1, CCDS45926.1	19p13.3	2011-05-03	2007-08-09		ENSG00000178078	ENSG00000178078			30430	protein-coding gene	gene with protein product		607881				10980601, 11441184	Standard	XM_005259592		Approved	STAP-2, BKS	uc002mac.3	Q9UGK3		ENST00000594605.1:c.450A>C	19.37:g.4329963T>G						STAP2_ENST00000594605.1_Silent_p.T150T	p.T150T	NM_017720.2	NP_060190.2	Q9UGK3	STAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)	5	517	-		Hepatocellular(1079;0.137)	150			SH2.		A6NKK3|Q9NXI2	Silent	SNP	ENST00000594605.1	37	c.450A>C	CCDS45926.1																																																																																				0.642	STAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458114.2	NM_001013841		7	17	0	0	0	0.080935	0	7	17					G	4329963	T	G	4329963	2	3	405	1	0	0	0	0	0	0	0	1	15252	1683	59	5		5	STAP2	19	4329963	Silent	SNP	T	TCGA-FE-A231-01A-11D-A14W-08		4329963	54799020	18	8336											
PLCB4	5332	broad.mit.edu	37	chr20	9388617	9388617	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggcatcttataaatatgtAggtgctaccactaatatcca	6	8	1	0			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr20:9388617A>G	ENST00000378493.1	+	18	1680	c.1665A>G	c.(1663-1665)gtA>gtG	p.V555V	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Silent_p.V555V|PLCB4_ENST00000334005.3_Silent_p.V555V|PLCB4_ENST00000378473.3_Silent_p.V567V|PLCB4_ENST00000414679.2_Silent_p.V567V|PLCB4_ENST00000278655.4_Silent_p.V555V			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	555					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ATAAATATGTAGGTGCTACCA	0.428																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(1663-1665)gtA>gtG		phospholipase C, beta 4							170	156	161					20																	9388617		2203	4300	6503	SO:0001819	synonymous_variant	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9388617A>G		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.1665A>G	20.37:g.9388617A>G						PLCB4_ENST00000414679.2_Silent_p.V567V|PLCB4_ENST00000378493.1_Silent_p.V555V|PLCB4_ENST00000378473.3_Silent_p.V567V|PLCB4_ENST00000334005.3_Silent_p.V555V|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Silent_p.V555V	p.V555V	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			18	1680	+			555					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Silent	SNP	ENST00000378493.1	37	c.1665A>G	CCDS13105.1																																																																																				0.428	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			3	141	0	0	0	0.004672	0	3	141					G	9388617	A	G	9388617	2	3	405	1	0	0	0	0	0	0	0	1	12030	407	15	3		3	PLCB4	20	9388617	Silent	SNP	A	TCGA-FE-A231-01A-11D-A14W-08		9388617	53636903	19	8337											
EIF2S2	8894	broad.mit.edu	37	chr20	32677564	32677564	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctttggcacggagctgtgctCgcttgcccgtgacagcctgg	14	13	0	1			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr20:32677564C>G	ENST00000374980.2	-	9	1195	c.974G>C	c.(973-975)cGa>cCa	p.R325P		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	325					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|male germ cell proliferation (GO:0002176)|male gonad development (GO:0008584)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						GAGCTGTGCTCGCTTGCCCGT	0.473																																						ENST00000374980.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						c.(973-975)cGa>cCa		eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa							80	69	73					20																	32677564		2203	4300	6503	SO:0001583	missense	8894					cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity	g.chr20:32677564C>G	M29536	CCDS13231.1	20q11.2	2012-04-17	2002-08-29		ENSG00000125977	ENSG00000125977		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	3266	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 67"	603908	"eukaryotic translation initiation factor 2, subunit 2 (beta, 38kD )"	EIF2		3044606	Standard	XM_005260605		Approved	EIF2beta, PPP1R67	uc031rsu.1	P20042	OTTHUMG00000032287	ENST00000374980.2:c.974G>C	20.37:g.32677564C>G	ENSP00000364119:p.Arg325Pro						p.R325P	NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN			9	1195	-			325					Q9BVU0|Q9UJE4	Missense_Mutation	SNP	ENST00000374980.2	37	c.974G>C	CCDS13231.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933460	0.92458	.	.	ENSG00000125977	ENST00000374980	T	0.66280	-0.2	6.13	6.13	0.99165	.	0.000000	0.85682	D	0.000000	D	0.84656	0.5520	M	0.90870	3.155	0.80722	D	1	D;D;D	0.67145	0.994;0.996;0.996	D;D;D	0.72982	0.951;0.979;0.979	D	0.86389	0.1734	10	0.87932	D	0	-25.1421	20.8599	0.99761	0.0:1.0:0.0:0.0	.	325;325;325	B5BU01;Q6IBR8;P20042	.;.;IF2B_HUMAN	P	325	ENSP00000364119:R325P	ENSP00000364119:R325P	R	-	2	0	EIF2S2	32141225	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.783000	0.85696	2.937000	0.99478	0.650000	0.86243	CGA		0.473	EIF2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078765.2	NM_003908		25	42	0	0	0	0.0918	0	25	42					G	32677564	C	G	32677564	3	3	405	1	0	0	0	0	1	0	0	0	5010	884	31	4	31	4	EIF2S2	20	32677564	Missense_Mutation	SNP	C	TCGA-FE-A231-01A-11D-A14W-08	23288947	32677564	30347956	20	8338											
TSHZ2	128553	broad.mit.edu	37	chr20	51870661	51870661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgatgccgacagtgcagcGcggcctatgacaccctagtc	11	15	0	1	rs141167641	byFrequency	TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr20:51870661G>A	ENST00000371497.5	+	2	1551	c.664G>A	c.(664-666)Gcg>Acg	p.A222T	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.A219T|TSHZ2_ENST00000603338.2_Missense_Mutation_p.A219T	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	222					multicellular organismal development (GO:0007275)|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.A222T(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ACAGTGCAGCGCGGCCTATGA	0.562													G|||	4	0.000798722	0	0	5008	,	,		19301	0		0.001	False		,,,				2504	0.0031					ENST00000371497.5																			1	Substitution - Missense(1)	p.A222T(1)	ovary(1)	NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(664-666)Gcg>Acg		teashirt zinc finger homeobox 2							57	52	53					20																	51870661		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51870661G>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.664G>A	20.37:g.51870661G>A	ENSP00000360552:p.Ala222Thr					TSHZ2_ENST00000329613.6_Missense_Mutation_p.A219T|TSHZ2_ENST00000603338.2_Missense_Mutation_p.A219T	p.A222T	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	1551	+			222					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.664G>A	CCDS33490.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	24.9	4.584970	0.86748	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.16073	2.37;2.37	5.2	5.2	0.72013	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.41213	0.1149	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.17715	-1.0360	10	0.66056	D	0.02	-21.8975	19.0899	0.93223	0.0:0.0:1.0:0.0	.	222	Q9NRE2	TSH2_HUMAN	T	222;219	ENSP00000360552:A222T;ENSP00000333114:A219T	ENSP00000333114:A219T	A	+	1	0	TSHZ2	51304068	1.000000	0.71417	0.730000	0.30809	0.640000	0.38277	9.414000	0.97362	2.579000	0.87056	0.643000	0.83706	GCG		0.562	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		10	29	0	0	0	0.058154	0	10	29					A	51870661	G	A	51870661	3	1	405	1	0	0	0	0	1	0	0	0	16621	1087	38	1	670	1	TSHZ2	20	51870661	Missense_Mutation	SNP	G	TCGA-FE-A231-01A-11D-A14W-08	19193097	51870661	11154859	21	8339											
PANX2	56666	broad.mit.edu	37	chr22	50615510	50615510	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcgctgtttgagcacaagttCctgccctacgcgctgctggc	11	14	0	1			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr22:50615510C>T	ENST00000395842.2	+	2	369	c.369C>T	c.(367-369)ttC>ttT	p.F123F	PANX2_ENST00000159647.5_Silent_p.F123F	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	123					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		AGCACAAGTTCCTGCCCTACG	0.697																																						ENST00000395842.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(367-369)ttC>ttT		pannexin 2							36	29	31					22																	50615510		2195	4294	6489	SO:0001819	synonymous_variant	56666				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr22:50615510C>T		CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"Ion channels / Pannexins"	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.369C>T	22.37:g.50615510C>T						PANX2_ENST00000159647.5_Silent_p.F123F	p.F123F	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	2	369	+		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)	123					B7Z684|Q96RD5|Q9UGX8	Silent	SNP	ENST00000395842.2	37	c.369C>T	CCDS14085.2																																																																																				0.697	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	NM_052839		8	14	0	0	0	0.058154	0	8	14					T	50615510	C	T	50615510	2	4	405	1	0	0	0	0	0	0	0	1	11421	854	30	2		2	PANX2	22	50615510	Silent	SNP	C	TCGA-FE-A231-01A-11D-A14W-08		50615510	689056	22	8340											
PCDH11X	27328	broad.mit.edu	37	chrX	91133972	91133972	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctagaccttcctattgatctAgaagagcaaacaatgggaaa	8	8	1	4			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chrX:91133972A>G	ENST00000373094.1	+	2	3578	c.2733A>G	c.(2731-2733)ctA>ctG	p.L911L	PCDH11X_ENST00000373097.1_Silent_p.L911L|PCDH11X_ENST00000298274.8_Silent_p.L911L|PCDH11X_ENST00000361724.1_Silent_p.L911L|PCDH11X_ENST00000395337.2_Silent_p.L911L|PCDH11X_ENST00000373088.1_Silent_p.L911L|PCDH11X_ENST00000406881.1_Silent_p.L911L|PCDH11X_ENST00000504220.2_Silent_p.L911L|PCDH11X_ENST00000361655.2_Silent_p.L911L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	911					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTATTGATCTAGAAGAGCAAA	0.428																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(2731-2733)ctA>ctG		protocadherin 11 X-linked							112	100	104					X																	91133972		2203	4297	6500	SO:0001819	synonymous_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133972A>G	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2733A>G	X.37:g.91133972A>G						PCDH11X_ENST00000361655.2_Silent_p.L911L|PCDH11X_ENST00000361724.1_Silent_p.L911L|PCDH11X_ENST00000406881.1_Silent_p.L911L|PCDH11X_ENST00000504220.1_Silent_p.L911L|PCDH11X_ENST00000298274.8_Silent_p.L911L|PCDH11X_ENST00000373088.1_Silent_p.L911L|PCDH11X_ENST00000373097.1_Silent_p.L911L|PCDH11X_ENST00000395337.2_Silent_p.L911L	p.L911L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			2	3578	+			911					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	c.2733A>G	CCDS14461.1																																																																																				0.428	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		4	57	0	0	0	0.009096	0	4	57					G	91133972	A	G	91133972	2	3	405	1	0	0	0	0	0	0	0	1	11508	407	15	3		3	PCDH11X	23	91133972	Silent	SNP	A	TCGA-FE-A231-01A-11D-A14W-08		91133972	64136588	23	8341											
ORC1L	4998	broad.mit.edu	37	chr1	52851596	52851596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactacggatctgaggagcgGcacaacgtggcgttctaggc	15	10	2	1			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr1:52851596G>A	ENST00000371568.3	-	9	1627	c.1409C>T	c.(1408-1410)gCc>gTc	p.A470V	ORC1_ENST00000371566.1_Missense_Mutation_p.A470V	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	470					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CTGAGGAGCGGCACAACGTGG	0.512																																						ENST00000371568.3																			0				breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1408-1410)gCc>gTc		origin recognition complex, subunit 1							46	44	45					1																	52851596		2203	4300	6503	SO:0001583	missense	4998				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding	g.chr1:52851596G>A		CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"ATPases / AAA-type"	8487	protein-coding gene	gene with protein product	"origin recognition complex, subunit 1, S. cerevisiae, homolog-like", "origin recognition complex 1", "replication control protein 1"	601902	"origin recognition complex, subunit 1 (yeast homolog)-like", "origin recognition complex, subunit 1-like (yeast)", "origin recognition complex, subunit 1 homolog (S. cerevisiae)"	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.1409C>T	1.37:g.52851596G>A	ENSP00000360623:p.Ala470Val					ORC1_ENST00000371566.1_Missense_Mutation_p.A470V	p.A470V	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN			9	1627	-			470					D3DQ34|Q13471|Q5T0F5	Missense_Mutation	SNP	ENST00000371568.3	37	c.1409C>T	CCDS566.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.482412	0.26598	.	.	ENSG00000085840	ENST00000371568;ENST00000371566	T;T	0.44881	0.91;0.91	4.88	2.98	0.34508	.	0.316716	0.36932	N	0.002331	T	0.40040	0.1101	M	0.68317	2.08	0.50632	D	0.999887	B;B	0.12013	0.005;0.003	B;B	0.14023	0.01;0.009	T	0.25222	-1.0138	10	0.33141	T	0.24	-4.4027	11.8322	0.52301	0.1463:0.0:0.8537:0.0	.	465;470	B7Z8H0;Q13415	.;ORC1_HUMAN	V	470	ENSP00000360623:A470V;ENSP00000360621:A470V	ENSP00000360621:A470V	A	-	2	0	ORC1	52624184	1.000000	0.71417	0.012000	0.15200	0.098000	0.18820	3.294000	0.51787	0.722000	0.32252	0.650000	0.86243	GCC		0.512	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022202.1	NM_004153		5	29	0	0	0	0.014758	0	5	29					A	52851596	G	A	52851596	3	1	406	1	0	0	0	0	1	0	0	0	11261	1203	42	2	1212	2	ORC1L	1	52851596	Missense_Mutation	SNP	G	TCGA-FE-A232-01A-11D-A14W-08		52851596	196399025	1	8342											
ASH1L	55870	broad.mit.edu	37	chr1	155491033	155491033	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaggttttttagttctcttaGcctggaggccaattttcaat	9	7	2	0			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr1:155491033G>C	ENST00000368346.3	-	2	917	c.278C>G	c.(277-279)gCt>gGt	p.A93G	ASH1L_ENST00000548830.1_Missense_Mutation_p.A93G|ASH1L_ENST00000392403.3_Missense_Mutation_p.A93G			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	93					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)			AGTTCTCTTAGCCTGGAGGCC	0.383																																						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.(277-279)gCt>gGt		ash1 (absent, small, or homeotic)-like (Drosophila)							157	162	160					1																	155491033		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.chr1:155491033G>C	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.278C>G	1.37:g.155491033G>C	ENSP00000357330:p.Ala93Gly					ASH1L_ENST00000392403.3_Missense_Mutation_p.A93G|ASH1L_ENST00000548830.1_Missense_Mutation_p.A93G	p.A93G			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		2	917	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		93					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.278C>G		.	.	.	.	.	.	.	.	.	.	G	28.4	4.915143	0.92178	.	.	ENSG00000116539	ENST00000368346;ENST00000392403;ENST00000548830	D;D	0.91295	-2.82;-2.82	5.89	5.89	0.94794	.	0.075497	0.53938	D	0.000047	D	0.88385	0.6422	N	0.14661	0.345	0.49798	D	0.99982	D;D	0.58268	0.97;0.982	P;P	0.58013	0.681;0.831	D	0.90361	0.4373	10	0.66056	D	0.02	.	19.8478	0.96722	0.0:0.0:1.0:0.0	.	93;93	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	G	93	ENSP00000357330:A93G;ENSP00000376204:A93G	ENSP00000357330:A93G	A	-	2	0	ASH1L	153757657	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.926000	0.92839	2.788000	0.95919	0.557000	0.71058	GCT		0.383	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		8	222	0	0	0	0.038147	0	8	222					C	155491033	G	C	155491033	3	2	406	1	0	0	0	0	1	0	0	0	1041	971	34	4	8724	4	ASH1L	1	155491033	Missense_Mutation	SNP	G	TCGA-FE-A232-01A-11D-A14W-08	102639437	155491033	93759588	2	8343											
CHST10	9486	broad.mit.edu	37	chr2	101009934	101009934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctccagggtctcgtggtGtccaatcacactgtacatta	9	12	2	0			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr2:101009934G>A	ENST00000264249.3	-	7	1229	c.844C>T	c.(844-846)Cac>Tac	p.H282Y	CHST10_ENST00000542617.1_Missense_Mutation_p.H330Y|CHST10_ENST00000409701.1_Missense_Mutation_p.H282Y	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	282					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						GTCTCGTGGTGTCCAATCACA	0.522																																						ENST00000264249.3																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						c.(844-846)Cac>Tac		carbohydrate sulfotransferase 10							223	184	197					2																	101009934		2203	4300	6503	SO:0001583	missense	9486				carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction		g.chr2:101009934G>A	BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"Sulfotransferases, membrane-bound"	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.844C>T	2.37:g.101009934G>A	ENSP00000264249:p.His282Tyr					CHST10_ENST00000409701.1_Missense_Mutation_p.H282Y|CHST10_ENST00000542617.1_Missense_Mutation_p.H330Y	p.H282Y	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN			7	1229	-			282					Q53T18	Missense_Mutation	SNP	ENST00000264249.3	37	c.844C>T	CCDS2047.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.010720	0.93346	.	.	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701	T;T;T	0.73152	-0.72;-0.72;-0.72	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.84009	0.5378	M	0.76574	2.34	0.80722	D	1	D	0.67145	0.996	D	0.63488	0.915	D	0.84714	0.0736	10	0.87932	D	0	-39.552	20.2963	0.98556	0.0:0.0:1.0:0.0	.	282	O43529	CHSTA_HUMAN	Y	282;330;282	ENSP00000264249:H282Y;ENSP00000438869:H330Y;ENSP00000387309:H282Y	ENSP00000264249:H282Y	H	-	1	0	CHST10	100376366	1.000000	0.71417	0.973000	0.42090	0.999000	0.98932	9.869000	0.99810	2.813000	0.96785	0.655000	0.94253	CAC		0.522	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253162.1	NM_004854		21	90	0	0	0	0.049695	0	21	90					A	101009934	G	A	101009934	3	1	406	1	0	0	0	0	1	0	0	0	3398	1377	48	2	230	2	CHST10	2	101009934	Missense_Mutation	SNP	G	TCGA-FE-A232-01A-11D-A14W-08		101009934	142189439	3	8344											
SLC34A2	10568	broad.mit.edu	37	chr4	25678162	25678162	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatgcgctgctgctgctgcTgccgcgtgtgctgccgcgcg	16	14	0	1			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr4:25678162T>C	ENST00000382051.3	+	13	1914	c.1864T>C	c.(1864-1866)Tgc>Cgc	p.C622R	SLC34A2_ENST00000504570.1_Missense_Mutation_p.C621R|SLC34A2_ENST00000503434.1_Missense_Mutation_p.C621R	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	622	Cys-rich.				aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)	p.C622delC(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				ctgctgctgctgccgcgtgtg	0.657			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"solute carrier family 34 (sodium phosphate), member 2"			E	ROS1		NSCLC	SLC34A2/ROS1(14)	1	Deletion - In frame(1)	p.C622delC(1)	endometrium(1)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(1864-1866)Tgc>Cgc		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							27	28	28					4																	25678162		2203	4296	6499	SO:0001583	missense	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25678162T>C	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"Solute carriers"	11020	protein-coding gene	gene with protein product		604217	"solute carrier family 34 (sodium phosphate), member 2"			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1864T>C	4.37:g.25678162T>C	ENSP00000371483:p.Cys622Arg					SLC34A2_ENST00000503434.1_Missense_Mutation_p.C621R|SLC34A2_ENST00000504570.1_Missense_Mutation_p.C621R	p.C622R	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			13	1914	+		Breast(46;0.0503)	622			Cys-rich.		A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	37	c.1864T>C	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	T	15.28	2.785982	0.49997	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	T;T;T	0.33654	1.4;1.4;1.4	4.24	4.24	0.50183	.	0.107483	0.41097	D	0.000956	T	0.51856	0.1699	M	0.62016	1.91	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.85130	0.997;0.994	T	0.52873	-0.8517	10	0.56958	D	0.05	-20.7066	7.2052	0.25903	0.1984:0.0:0.0:0.8016	.	621;622	O95436-2;O95436	.;NPT2B_HUMAN	R	621;622;621	ENSP00000425501:C621R;ENSP00000371483:C622R;ENSP00000423021:C621R	ENSP00000371483:C622R	C	+	1	0	SLC34A2	25287260	0.994000	0.37717	1.000000	0.80357	0.797000	0.45037	0.000000	0.12993	1.904000	0.55121	0.402000	0.26972	TGC		0.657	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		12	36	0	0	0	0.09319	0	12	36					C	25678162	T	C	25678162	3	2	406	1	0	0	0	0	1	0	0	0	14568	1580	55	3	1910	3	SLC34A2	4	25678162	Missense_Mutation	SNP	T	TCGA-FE-A232-01A-11D-A14W-08		25678162	165476114	4	8345											
KIF4B	285643	broad.mit.edu	37	chr5	154393468	154393468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taagagtggcactgcgttgtCgccctctggtccccaaagag	12	12	1	2			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr5:154393468C>T	ENST00000435029.4	+	1	209	c.49C>T	c.(49-51)Cgc>Tgc	p.R17C		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	17	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACTGCGTTGTCGCCCTCTGGT	0.542																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(49-51)Cgc>Tgc		kinesin family member 4B							122	116	118					5																	154393468		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154393468C>T	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.49C>T	5.37:g.154393468C>T	ENSP00000387875:p.Arg17Cys						p.R17C	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	209	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	17			Kinesin-motor.			Missense_Mutation	SNP	ENST00000435029.4	37	c.49C>T	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	c	15.97	2.989551	0.53934	.	.	ENSG00000226650	ENST00000435029	D	0.85339	-1.97	1.48	1.48	0.22813	Kinesin, motor domain (4);	.	.	.	.	D	0.95149	0.8428	H	0.99719	4.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93917	0.7202	9	0.87932	D	0	.	8.8832	0.35387	0.0:1.0:0.0:0.0	.	17	Q2VIQ3	KIF4B_HUMAN	C	17	ENSP00000387875:R17C	ENSP00000387875:R17C	R	+	1	0	KIF4B	154373661	1.000000	0.71417	0.981000	0.43875	0.963000	0.63663	1.391000	0.34475	1.138000	0.42230	0.563000	0.77884	CGC		0.542	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			16	59	0	0	0	0.0333	0	16	59					T	154393468	C	T	154393468	3	4	406	1	0	0	0	0	1	0	0	0	8304	884	31	1	51	1	KIF4B	5	154393468	Missense_Mutation	SNP	C	TCGA-FE-A232-01A-11D-A14W-08		154393468	26521792	5	8346											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		20	47	0	0	0	0.055883	0	20	47					T	140453136	A	T	140453136	3	4	406	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FE-A232-01A-11D-A14W-08		140453136	18685527	6	8347											
RBM17	84991	broad.mit.edu	37	chr10	6150700	6150700	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctctggtagagaaagacaAagagtgtaagtagatctgtt	11	4	2	4	rs368547331		TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr10:6150700A>C	ENST00000446108.1	+	6	1201	c.557A>C	c.(556-558)aAa>aCa	p.K186T	RBM17_ENST00000379888.4_Missense_Mutation_p.K186T	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	186					alternative mRNA splicing, via spliceosome (GO:0000380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						GAGAAAGACAAAGAGTGTAAG	0.488											OREG0019990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000446108.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						c.(556-558)aAa>aCa		RNA binding motif protein 17							145	136	139					10																	6150700		2203	4300	6503	SO:0001583	missense	84991				mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr10:6150700A>C	AF083384	CCDS7077.1	10p15.1	2013-01-28			ENSG00000134453	ENSG00000134453		"RNA binding motif (RRM) containing", "G patch domain containing"	16944	protein-coding gene	gene with protein product	"splicing factor 45kDa"	606935				9731529	Standard	NM_032905		Approved	SPF45, MGC14439	uc001ijb.3	Q96I25	OTTHUMG00000017618	ENST00000446108.1:c.557A>C	10.37:g.6150700A>C	ENSP00000388638:p.Lys186Thr		OREG0019990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	631	RBM17_ENST00000379888.4_Missense_Mutation_p.K186T	p.K186T	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN			6	1201	+			186					Q96GY6	Missense_Mutation	SNP	ENST00000446108.1	37	c.557A>C	CCDS7077.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.72|13.72	2.321063|2.321063	0.41096|0.41096	.|.	.|.	ENSG00000134453|ENSG00000134453	ENST00000447032|ENST00000372795;ENST00000379888;ENST00000437845;ENST00000432931;ENST00000446108;ENST00000418631	T|T;T;T;T	0.47177|0.46819	0.85|0.86;0.86;0.86;0.86	4.83|4.83	4.83|4.83	0.62350|0.62350	.|.	0.121654|0.121654	0.56097|0.56097	D|D	0.000028|0.000028	T|T	0.24005|0.24005	0.0581|0.0581	N|N	0.04508|0.04508	-0.205|-0.205	0.40109|0.40109	D|D	0.976465|0.976465	.|B	.|0.27498	.|0.18	.|B	.|0.27076	.|0.076	T|T	0.12889|0.12889	-1.0530|-1.0530	8|10	0.14656|0.26408	T|T	0.56|0.33	-25.8673|-25.8673	9.2873|9.2873	0.37764|0.37764	0.9185:0.0:0.0815:0.0|0.9185:0.0:0.0815:0.0	.|.	.|186	.|Q96I25	.|SPF45_HUMAN	Q|T	93|154;186;154;185;186;186	ENSP00000406024:K93Q|ENSP00000369218:K186T;ENSP00000408214:K185T;ENSP00000388638:K186T;ENSP00000402303:K186T	ENSP00000406024:K93Q|ENSP00000361881:K154T	K|K	+|+	1|2	0|0	RBM17|RBM17	6190706|6190706	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.938000|0.938000	0.57974|0.57974	5.437000|5.437000	0.66544|0.66544	1.931000|1.931000	0.55961|0.55961	0.455000|0.455000	0.32223|0.32223	AAG|AAA		0.488	RBM17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046635.1	NM_032905		4	19	0	0	0	0.014758	0	4	19					C	6150700	A	C	6150700	3	2	406	1	0	0	0	0	1	0	0	0	13119	14	1	5	575	5	RBM17	10	6150700	Missense_Mutation	SNP	A	TCGA-FE-A232-01A-11D-A14W-08		6150700	129384047	7	8348											
CACNA1C	775	broad.mit.edu	37	chr12	2614030	2614030	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatgatgccgtaggaagggActggccctggatctattttg	13	8	1	1			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr12:2614030A>G	ENST00000347598.4	+	8	1136	c.1136A>G	c.(1135-1137)gAc>gGc	p.D379G	CACNA1C_ENST00000344100.3_Missense_Mutation_p.D379G|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399597.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D379G|CACNA1C_ENST00000399644.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000335762.5_Missense_Mutation_p.D379G|CACNA1C_ENST00000399638.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000480911.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000327702.7_Missense_Mutation_p.D379G|CACNA1C_ENST00000399629.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000399606.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000399649.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000399655.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000399637.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000491104.1_Intron|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000406454.3_Intron	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	379					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GTAGGAAGGGACTGGCCCTGG	0.512																																						ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(1135-1137)gAc>gGc		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						107	109	108					12																	2614030		1977	4171	6148	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2614030A>G	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1136A>G	12.37:g.2614030A>G	ENSP00000266376:p.Asp379Gly					CACNA1C_ENST00000335762.5_Missense_Mutation_p.D379G|CACNA1C_ENST00000399644.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000327702.7_Missense_Mutation_p.D379G|CACNA1C_ENST00000399638.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000480911.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D379G|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000399649.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000399637.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000347598.4_Missense_Mutation_p.D379G|CACNA1C_ENST00000344100.3_Missense_Mutation_p.D379G|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000399606.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000399629.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000491104.1_Intron|CACNA1C_ENST00000399597.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D379G	p.D379G	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	8	1401	+			379					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.1136A>G	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	A	13.85	2.359866	0.41801	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399595	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97161	-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27	5.18	5.18	0.71444	Ion transport (1);	.	.	.	.	D	0.93776	0.8010	N	0.16833	0.445	0.80722	D	1	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.32800	0.385;0.096;0.0;0.261;0.142;0.096;0.142;0.0;0.0;0.142;0.083;0.0;0.142;0.0;0.019;0.142;0.142;0.019;0.019	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.37387	0.248;0.068;0.002;0.248;0.136;0.068;0.136;0.003;0.004;0.136;0.136;0.002;0.136;0.002;0.046;0.093;0.093;0.046;0.046	D	0.93520	0.6860	9	0.52906	T	0.07	.	15.1942	0.73071	1.0:0.0:0.0:0.0	.	379;376;379;379;379;379;379;379;379;379;379;379;379;379;379;379;379;379;379	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-11;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	G	379	ENSP00000336982:D379G;ENSP00000382563:D379G;ENSP00000437936:D379G;ENSP00000382552:D379G;ENSP00000382547:D379G;ENSP00000382506:D379G;ENSP00000382530:D379G;ENSP00000382546:D379G;ENSP00000382500:D379G;ENSP00000266376:D379G;ENSP00000382515:D379G;ENSP00000382510:D379G;ENSP00000341092:D379G;ENSP00000382537:D379G;ENSP00000329877:D379G;ENSP00000382557:D379G;ENSP00000385724:D379G;ENSP00000382504:D379G	ENSP00000329877:D379G	D	+	2	0	CACNA1C	2484291	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.689000	0.54706	2.172000	0.68678	0.533000	0.62120	GAC		0.512	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		10	17	0	0	0	0.080935	0	10	17					G	2614030	A	G	2614030	3	3	406	1	0	0	0	0	1	0	0	0	2540	275	10	3	1274	3	CACNA1C	12	2614030	Missense_Mutation	SNP	A	TCGA-FE-A232-01A-11D-A14W-08		2614030	131237865	8	8349											
UTP20	27340	broad.mit.edu	37	chr12	101685754	101685754	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttttctttttgcaggtgttaTctcaaacactgcaagtagcc	7	9	2	0			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr12:101685754T>A	ENST00000261637.4	+	10	1219	c.1045T>A	c.(1045-1047)Tct>Act	p.S349T		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	349					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GCAGGTGTTATCTCAAACACT	0.423																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(1045-1047)Tct>Act		UTP20, small subunit (SSU) processome component, homolog (yeast)							155	153	153					12																	101685754		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101685754T>A	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.1045T>A	12.37:g.101685754T>A	ENSP00000261637:p.Ser349Thr						p.S349T	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			10	1219	+			349					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.1045T>A	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	T	4.046	0.006157	0.07866	.	.	ENSG00000120800	ENST00000261637	T	0.64991	-0.13	5.91	2.11	0.27256	Armadillo-type fold (1);	0.557097	0.19212	N	0.119896	T	0.40473	0.1118	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.12142	-1.0559	10	0.14252	T	0.57	-9.4066	2.0281	0.03523	0.2313:0.0731:0.2137:0.4818	.	349	O75691	UTP20_HUMAN	T	349	ENSP00000261637:S349T	ENSP00000261637:S349T	S	+	1	0	UTP20	100209885	0.057000	0.20700	0.008000	0.14137	0.038000	0.13279	1.137000	0.31479	0.441000	0.26529	0.533000	0.62120	TCT		0.423	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		4	157	0	0	0	0.009096	0	4	157					A	101685754	T	A	101685754	3	1	406	1	0	0	0	0	1	0	0	0	17096	1435	50	5	1083	5	UTP20	12	101685754	Missense_Mutation	SNP	T	TCGA-FE-A232-01A-11D-A14W-08	99071724	101685754	32166141	9	8350											
IFT140	9742	broad.mit.edu	37	chr16	1570247	1570247	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccagtccagggactgcaggTagttagcagccatgatgtag	14	9	0	1			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr16:1570247T>C	ENST00000426508.2	-	28	4121	c.3758A>G	c.(3757-3759)tAc>tGc	p.Y1253C	IFT140_ENST00000361339.5_Missense_Mutation_p.Y447C	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1253					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GGACTGCAGGTAGTTAGCAGC	0.562																																						ENST00000426508.2																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(3757-3759)tAc>tGc		intraflagellar transport 140 homolog (Chlamydomonas)							138	131	133					16																	1570247		2199	4300	6499	SO:0001583	missense	9742							g.chr16:1570247T>C	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.3758A>G	16.37:g.1570247T>C	ENSP00000406012:p.Tyr1253Cys					IFT140_ENST00000361339.5_Missense_Mutation_p.Y447C	p.Y1253C	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN			28	4121	-		Hepatocellular(780;0.219)	1253					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.3758A>G	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.046069	0.75846	.	.	ENSG00000187535	ENST00000397417;ENST00000361339;ENST00000426508	T;T	0.57107	0.42;0.42	6.02	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.77205	0.4096	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80756	-0.1240	10	0.49607	T	0.09	.	13.5567	0.61763	0.0:0.0:0.1298:0.8702	.	1253;940	Q96RY7;B4DR58	IF140_HUMAN;.	C	1253;447;1253	ENSP00000354895:Y447C;ENSP00000406012:Y1253C	ENSP00000354895:Y447C	Y	-	2	0	IFT140	1510248	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.971000	0.88012	1.085000	0.41206	0.533000	0.62120	TAC		0.562	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		4	110	0	0	0	0.009096	0	4	110					C	1570247	T	C	1570247	3	2	406	1	0	0	0	0	1	0	0	0	7556	1638	57	3	646	3	IFT140	16	1570247	Missense_Mutation	SNP	T	TCGA-FE-A232-01A-11D-A14W-08		1570247	88784506	10	8351											
COG7	91949	broad.mit.edu	37	chr16	23453819	23453819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacagcctgagaggtgaatgCcgctacaatctgtggactgg	13	9	1	2			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr16:23453819C>T	ENST00000307149.5	-	4	768	c.583G>A	c.(583-585)Gca>Aca	p.A195T	SNORA75_ENST00000391291.1_RNA	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	195					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GAGGTGAATGCCGCTACAATC	0.458																																						ENST00000307149.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27						c.(583-585)Gca>Aca		component of oligomeric golgi complex 7							122	98	106					16																	23453819		2197	4300	6497	SO:0001583	missense	91949				intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:23453819C>T	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"Components of oligomeric golgi complex"	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.583G>A	16.37:g.23453819C>T	ENSP00000305442:p.Ala195Thr						p.A195T	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN		GBM - Glioblastoma multiforme(48;0.0401)	4	768	-			195					Q6UWU7	Missense_Mutation	SNP	ENST00000307149.5	37	c.583G>A	CCDS10610.1	.	.	.	.	.	.	.	.	.	.	C	8.911	0.958683	0.18507	.	.	ENSG00000168434	ENST00000307149	T	0.50813	0.73	5.77	4.81	0.61882	.	0.257927	0.45126	D	0.000384	T	0.37210	0.0995	N	0.25485	0.75	0.26207	N	0.979357	B	0.12013	0.005	B	0.17433	0.018	T	0.21449	-1.0245	10	0.35671	T	0.21	-3.2925	15.5215	0.75869	0.1387:0.8613:0.0:0.0	.	195	P83436	COG7_HUMAN	T	195	ENSP00000305442:A195T	ENSP00000305442:A195T	A	-	1	0	COG7	23361320	0.808000	0.29022	0.003000	0.11579	0.007000	0.05969	1.937000	0.40193	1.415000	0.47037	0.655000	0.94253	GCA		0.458	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			4	99	0	0	0	0.009096	0	4	99					T	23453819	C	T	23453819	3	4	406	1	0	0	0	0	1	0	0	0	3663	739	26	2	1785	2	COG7	16	23453819	Missense_Mutation	SNP	C	TCGA-FE-A232-01A-11D-A14W-08	21883572	23453819	66900934	11	8352											
C16orf87	388272	broad.mit.edu	37	chr16	46843651	46843651	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgtagaatttatcttctcTctcctaactctctctgttcg	4	12	5	1			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr16:46843651T>C	ENST00000285697.4	-	3	471	c.210A>G	c.(208-210)agA>agG	p.R70R	C16orf87_ENST00000394806.2_Intron|C16orf87_ENST00000564250.1_5'UTR	NM_001001436.2	NP_001001436.1	Q6PH81	CP087_HUMAN	chromosome 16 open reading frame 87	70										large_intestine(4)|urinary_tract(1)	5						TTATCTTCTCTCTCCTAACTC	0.388																																						ENST00000285697.4																			0				large_intestine(4)|urinary_tract(1)	5						c.(208-210)agA>agG		chromosome 16 open reading frame 87							195	178	184					16																	46843651		2203	4300	6503	SO:0001819	synonymous_variant	388272							g.chr16:46843651T>C		CCDS10724.1	16q11.2	2008-08-08			ENSG00000155330	ENSG00000155330			33754	protein-coding gene	gene with protein product							Standard	NM_001001436		Approved		uc002eek.1	Q6PH81	OTTHUMG00000132538	ENST00000285697.4:c.210A>G	16.37:g.46843651T>C						C16orf87_ENST00000564250.1_5'UTR|C16orf87_ENST00000394806.2_Intron	p.R70R	NM_001001436.2	NP_001001436.1	Q6PH81	CP087_HUMAN			3	471	-			70					Q63HN9	Silent	SNP	ENST00000285697.4	37	c.210A>G	CCDS10724.1																																																																																				0.388	C16orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255738.2	NM_001001436		3	115	0	0	0	0.009096	0	3	115					C	46843651	T	C	46843651	2	2	406	1	0	0	0	0	0	0	0	1	1840	1548	54	3		3	C16orf87	16	46843651	Silent	SNP	T	TCGA-FE-A232-01A-11D-A14W-08	23389832	46843651	43511102	12	8353											
BRIP1	83990	broad.mit.edu	37	chr17	59761320	59761320	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacggggaggactagaggcActattctctgatgacccgag	13	9	1	3			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr17:59761320A>G	ENST00000259008.2	-	20	3354	c.3087T>C	c.(3085-3087)agT>agC	p.S1029S		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1029	Interaction with BRCA1.				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						GACTAGAGGCACTATTCTCTG	0.403			"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.(3085-3087)agT>agC	Involved in tolerance or repair of DNA crosslinks	BRCA1 interacting protein C-terminal helicase 1							125	120	122					17																	59761320		2203	4300	6503	SO:0001819	synonymous_variant	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.chr17:59761320A>G	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.3087T>C	17.37:g.59761320A>G							p.S1029S	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN			20	3354	-			1029			Interaction with BRCA1.		Q3MJE2|Q8NCI5	Silent	SNP	ENST00000259008.2	37	c.3087T>C	CCDS11631.1																																																																																				0.403	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		4	107	0	0	0	0.009096	0	4	107					G	59761320	A	G	59761320	2	3	406	1	0	0	0	0	0	0	0	1	1514	156	6	3		3	BRIP1	17	59761320	Silent	SNP	A	TCGA-FE-A232-01A-11D-A14W-08		59761320	21433890	13	8354											
SFRS15	57466	broad.mit.edu	37	chr21	33073397	33073397	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtctttaactgagctgtgaTagcctgaacctgagccatca	9	10	2	4			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr21:33073397T>C	ENST00000286835.7	-	7	1070	c.688A>G	c.(688-690)Atc>Gtc	p.I230V	SCAF4_ENST00000434667.3_Missense_Mutation_p.I215V|SCAF4_ENST00000399804.1_Missense_Mutation_p.I230V	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	230						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TGAGCTGTGATAGCCTGAACC	0.453																																						ENST00000286835.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(688-690)Atc>Gtc		SR-related CTD-associated factor 4							150	143	145					21																	33073397		2203	4300	6503	SO:0001583	missense	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33073397T>C	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"RNA binding motif (RRM) containing"	19304	protein-coding gene	gene with protein product			"splicing factor, arginine/serine-rich 15"	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.688A>G	21.37:g.33073397T>C	ENSP00000286835:p.Ile230Val					SCAF4_ENST00000434667.3_Missense_Mutation_p.I215V|SCAF4_ENST00000399804.1_Missense_Mutation_p.I230V	p.I230V	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN			7	1070	-			230					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	c.688A>G	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	T	13.69	2.312278	0.40895	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.43688	1.0;0.96;0.94	6.07	3.66	0.41972	.	0.165882	0.51477	D	0.000096	T	0.34571	0.0902	L	0.50919	1.6	0.42758	D	0.993799	B;B;B;B	0.12630	0.004;0.003;0.006;0.004	B;B;B;B	0.09377	0.002;0.003;0.004;0.002	T	0.11891	-1.0569	10	0.11794	T	0.64	-1.5607	13.1868	0.59686	0.0:0.0:0.2513:0.7487	.	215;230;230;230	C9JLZ0;Q0P607;O95104-2;O95104	.;.;.;SFR15_HUMAN	V	215;230;230	ENSP00000402377:I215V;ENSP00000286835:I230V;ENSP00000382703:I230V	ENSP00000286835:I230V	I	-	1	0	SCAF4	31995268	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.686000	0.46968	0.505000	0.28104	0.533000	0.62120	ATC		0.453	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		16	52	0	0	0	0.038395	0	16	52					C	33073397	T	C	33073397	3	2	406	1	0	0	0	0	1	0	0	0	14171	1406	49	3	2811	3	SFRS15	21	33073397	Missense_Mutation	SNP	T	TCGA-FE-A232-01A-11D-A14W-08		33073397	15056498	14	8355											
OR10Z1	128368	broad.mit.edu	37	chr1	158576999	158576999	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cattatggctgtgcttccttCgtgtacctgaggcccaaagc	10	12	0	1			TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr1:158576999C>A	ENST00000361284.1	+	1	771	c.771C>A	c.(769-771)ttC>ttA	p.F257L		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	257						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(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GTGCTTCCTTCGTGTACCTGA	0.493																																						ENST00000361284.1																			0				endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(769-771)ttC>ttA		olfactory receptor, family 10, subfamily Z, member 1							199	203	202					1																	158576999		2203	4300	6503	SO:0001583	missense	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576999C>A	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"GPCR / Class A : Olfactory receptors"	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.771C>A	1.37:g.158576999C>A	ENSP00000354707:p.Phe257Leu						p.F257L	NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN			1	771	+	all_hematologic(112;0.0378)		257					Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	c.771C>A	CCDS30901.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297615	0.60086	.	.	ENSG00000198967	ENST00000361284	T	0.00241	8.46	5.05	4.14	0.48551	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39909	N	0.001232	T	0.00178	0.0005	L	0.41632	1.29	0.30201	N	0.798619	D	0.89917	1.0	D	0.80764	0.994	T	0.55903	-0.8067	10	0.48119	T	0.1	.	12.2596	0.54642	0.0:0.9169:0.0:0.0831	.	257	Q8NGY1	O10Z1_HUMAN	L	257	ENSP00000354707:F257L	ENSP00000354707:F257L	F	+	3	2	OR10Z1	156843623	0.838000	0.29461	1.000000	0.80357	0.848000	0.48234	0.212000	0.17497	1.352000	0.45808	0.650000	0.86243	TTC		0.493	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		14	267	1	0	4.36969e-10	1	4.86625e-10	14	267					A	158576999	C	A	158576999	3	1	407	1	0	0	0	0	1	0	0	0	10923	883	31	4	773	4	OR10Z1	1	158576999	Missense_Mutation	SNP	C	TCGA-FE-A233-01A-11D-A14W-08		158576999	90673622	1	8356											
SLC26A6	65010	broad.mit.edu	37	chr3	48667529	48667529	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggccttccagagggagcgcAtgtcgctgagctgcctcagc	14	13	1	2			TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr3:48667529A>G	ENST00000395550.2	-	12	1435	c.1388T>C	c.(1387-1389)aTg>aCg	p.M463T	SLC26A6_ENST00000482282.1_5'Flank|SLC26A6_ENST00000383733.3_Missense_Mutation_p.M463T|SLC26A6_ENST00000358747.6_Missense_Mutation_p.M442T|SLC26A6_ENST00000337000.8_Missense_Mutation_p.M356T|SLC26A6_ENST00000420764.2_Missense_Mutation_p.M463T|SLC26A6_ENST00000455886.2_Missense_Mutation_p.M427T			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	463					angiotensin-activated signaling pathway (GO:0038166)|anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular response to cAMP (GO:0071320)|cellular response to fructose stimulus (GO:0071332)|cellular response to interferon-gamma (GO:0071346)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|epithelial fluid transport (GO:0042045)|formate transport (GO:0015724)|intestinal absorption (GO:0050892)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|mannitol transport (GO:0015797)|oxalate transport (GO:0019532)|oxalic acid secretion (GO:0046724)|positive regulation of dipeptide transmembrane transport (GO:2001150)|protein kinase C signaling (GO:0070528)|regulation of intracellular pH (GO:0051453)|sperm capacitation (GO:0048240)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transepithelial chloride transport (GO:0030321)|transepithelial transport (GO:0070633)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|chloride channel complex (GO:0034707)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle membrane (GO:0012506)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|chloride transmembrane transporter activity (GO:0015108)|efflux transmembrane transporter activity (GO:0015562)|formate efflux transmembrane transporter activity (GO:0015660)|formate transmembrane transporter activity (GO:0015499)|formate uptake transmembrane transporter activity (GO:0015659)|oxalate transmembrane transporter activity (GO:0019531)|PDZ domain binding (GO:0030165)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)		SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GAGGGAGCGCATGTCGCTGAG	0.667																																					NSCLC(13;369 479 28271 30152 44026)	ENST00000358747.6																		SLC26A6/PRKAR2A(2)	0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19						c.(1324-1326)aTg>aCg		solute carrier family 26 (anion exchanger), member 6							66	73	70					3																	48667529		2111	4234	6345	SO:0001583	missense	65010							g.chr3:48667529A>G	AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697		"Solute carriers"	14472	protein-coding gene	gene with protein product	"pendrin-like protein 1", "pendrin L1", "sulfate anion transporter", "anion transporter 1"	610068	"solute carrier family 26, member 6"			11087667, 11247665	Standard	NM_022911		Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000395550.2:c.1388T>C	3.37:g.48667529A>G	ENSP00000378920:p.Met463Thr					SLC26A6_ENST00000337000.8_Missense_Mutation_p.M356T|SLC26A6_ENST00000395550.2_Missense_Mutation_p.M463T|SLC26A6_ENST00000420764.2_Missense_Mutation_p.M463T|SLC26A6_ENST00000383733.3_Missense_Mutation_p.M463T|SLC26A6_ENST00000455886.2_Missense_Mutation_p.M427T	p.M442T	NM_001040454.1	NP_001035544.1				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)	11	1575	-								B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Missense_Mutation	SNP	ENST00000395550.2	37	c.1325T>C	CCDS43087.1	.	.	.	.	.	.	.	.	.	.	A	14.57	2.575198	0.45902	.	.	ENSG00000225697	ENST00000420764;ENST00000395550;ENST00000383733;ENST00000337000;ENST00000447978;ENST00000358747;ENST00000455886;ENST00000421649	D;D;D;D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08	5.32	5.32	0.75619	Sulphate transporter (1);	.	.	.	.	D	0.84183	0.5416	N	0.05351	-0.065	0.09310	N	0.999999	B;B;B;B;B;B;B	0.26400	0.148;0.001;0.047;0.0;0.001;0.001;0.005	B;B;B;B;B;B;B	0.16289	0.015;0.014;0.006;0.002;0.003;0.003;0.01	T	0.77064	-0.2726	9	0.72032	D	0.01	.	15.4371	0.75155	1.0:0.0:0.0:0.0	.	427;476;356;463;463;463;3868	B4DMZ1;Q86YZ4;G3XAC1;Q9BXS9-2;Q548A7;Q9BXS9;Q5Y190	.;.;.;.;.;S26A6_HUMAN;.	T	463;463;463;356;476;442;427;271	ENSP00000404684:M463T;ENSP00000378920:M463T;ENSP00000373239:M463T;ENSP00000337648:M356T;ENSP00000351597:M442T;ENSP00000401066:M427T;ENSP00000389922:M271T	ENSP00000337648:M356T	M	-	2	0	SLC26A6	48642533	0.940000	0.31905	0.013000	0.15412	0.006000	0.05464	8.510000	0.90532	2.224000	0.72417	0.533000	0.62120	ATG		0.667	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345040.1	NM_022911		5	82	0	0	0	1	0	5	82					G	48667529	A	G	48667529	3	3	407	1	0	0	0	0	1	0	0	0	14521	217	8	3	967	3	SLC26A6	3	48667529	Missense_Mutation	SNP	A	TCGA-FE-A233-01A-11D-A14W-08		48667529	149354901	2	8357											
LSAMP	4045	broad.mit.edu	37	chr3	115571362	115571362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgacttgtttgacatccGccgaggagacctcgttggca	11	12	0	3			TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr3:115571362G>A	ENST00000490035.2	-	4	1116	c.617C>T	c.(616-618)gCg>gTg	p.A206V	LSAMP_ENST00000498645.1_5'UTR|LSAMP_ENST00000539563.1_Missense_Mutation_p.A203V	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	206	Ig-like C2-type 2.				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)		TTTGACATCCGCCGAGGAGAC	0.527																																						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.(616-618)gCg>gTg		limbic system-associated membrane protein							146	124	132					3																	115571362		2203	4300	6503	SO:0001583	missense	4045				cell adhesion|nervous system development	anchored to membrane|plasma membrane		g.chr3:115571362G>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.617C>T	3.37:g.115571362G>A	ENSP00000419000:p.Ala206Val					LSAMP_ENST00000539563.1_Missense_Mutation_p.A203V|LSAMP_ENST00000498645.1_5'UTR	p.A206V	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)	4	1116	-		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)	206			Ig-like C2-type 2.		Q8IV49	Missense_Mutation	SNP	ENST00000490035.2	37	c.617C>T	CCDS2982.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.010766	0.93346	.	.	ENSG00000185565	ENST00000333617;ENST00000490035;ENST00000539563	T;T;T	0.67698	-0.28;-0.28;-0.28	6.17	6.17	0.99709	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.047588	0.85682	D	0.000000	T	0.75324	0.3834	L	0.43701	1.375	0.58432	D	0.999998	D;D	0.67145	0.996;0.989	P;P	0.58331	0.792;0.837	T	0.73288	-0.4030	10	0.51188	T	0.08	-9.0498	20.8794	0.99867	0.0:0.0:1.0:0.0	.	206;206	B2RCU8;Q13449	.;LSAMP_HUMAN	V	190;206;203	ENSP00000328455:A190V;ENSP00000419000:A206V;ENSP00000443429:A203V	ENSP00000328455:A190V	A	-	2	0	LSAMP	117054052	1.000000	0.71417	0.976000	0.42696	0.943000	0.58893	8.882000	0.92420	2.941000	0.99782	0.655000	0.94253	GCG		0.527	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	NM_002338		29	37	0	0	0	1	0	29	37					A	115571362	G	A	115571362	3	1	407	1	0	0	0	0	1	0	0	0	9048	1087	38	1	415	1	LSAMP	3	115571362	Missense_Mutation	SNP	G	TCGA-FE-A233-01A-11D-A14W-08	66903833	115571362	82451068	3	8358											
KIF13A	63971	broad.mit.edu	37	chr6	17765031	17765031	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaagacccgtgagtttgaCagatctactttagaggaaaa	9	8	1	5			TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr6:17765031C>T	ENST00000259711.6	-	39	4833	c.4728G>A	c.(4726-4728)ctG>ctA	p.L1576L	KIF13A_ENST00000378816.5_Silent_p.L1541L|KIF13A_ENST00000378826.2_Silent_p.L1541L|KIF13A_ENST00000378843.2_Silent_p.L1528L|KIF13A_ENST00000378814.5_Silent_p.L1528L	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1576					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GTGAGTTTGACAGATCTACTT	0.473																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(4582-4584)ctG>ctA		kinesin family member 13A							77	75	75					6																	17765031		1957	4158	6115	SO:0001819	synonymous_variant	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17765031C>T	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.4728G>A	6.37:g.17765031C>T						KIF13A_ENST00000378816.5_Silent_p.L1541L|KIF13A_ENST00000378843.2_Silent_p.L1528L|KIF13A_ENST00000378826.2_Silent_p.L1541L|KIF13A_ENST00000259711.6_Silent_p.L1576L	p.L1528L	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		37	4583	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	1576					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Silent	SNP	ENST00000259711.6	37	c.4584G>A	CCDS47381.1																																																																																				0.473	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			3	34	0	0	0	1	0	3	34					T	17765031	C	T	17765031	2	4	407	1	0	0	0	0	0	0	0	1	8274	465	17	2		2	KIF13A	6	17765031	Silent	SNP	C	TCGA-FE-A233-01A-11D-A14W-08		17765031	153350036	4	8359											
PKHD1	5314	broad.mit.edu	37	chr6	51523917	51523917	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgctccttactgttggCgaatcaccaatttcaatgac	7	12	2	1	rs142855690		TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr6:51523917C>T	ENST00000371117.3	-	61	11282	c.11007G>A	c.(11005-11007)tcG>tcA	p.S3669S		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3669					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTACTGTTGGCGAATCACCAA	0.423													c|||	1	0.000199681	0	0	5008	,	,		20393	0		0.001	False		,,,				2504	0					ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(11005-11007)tcG>tcA		polycystic kidney and hepatic disease 1 (autosomal recessive)		G		0,4406		0,0,2203	173	159	164		11007	-3.1	0.0	6	dbSNP_134	164	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PKHD1	NM_138694.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		3669/4075	51523917	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51523917C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11007G>A	6.37:g.51523917C>T							p.S3669S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			61	11282	-	Lung NSC(77;0.0605)		3669					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.11007G>A	CCDS4935.1																																																																																				0.423	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		11	184	0	0	0	1	0	11	184					T	51523917	C	T	51523917	2	4	407	1	0	0	0	0	0	0	0	1	11971	755	27	1		1	PKHD1	6	51523917	Silent	SNP	C	TCGA-FE-A233-01A-11D-A14W-08	33758886	51523917	119591150	5	8360											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		38	45	0	0	0	1	0	38	45					T	140453136	A	T	140453136	3	4	407	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FE-A233-01A-11D-A14W-08		140453136	18685527	6	8361											
TMEM26	219623	broad.mit.edu	37	chr10	63170274	63170274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgccaatgccagcaccaCcaagcggtagagttgcaaca	10	13	0	1			TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr10:63170274C>T	ENST00000399298.3	-	6	1281	c.913G>A	c.(913-915)Gtg>Atg	p.V305M	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	305						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GCCAGCACCACCAAGCGGTAG	0.532																																						ENST00000399298.3																			0				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(913-915)Gtg>Atg		transmembrane protein 26							107	111	110					10																	63170274		2099	4228	6327	SO:0001583	missense	219623					integral to membrane		g.chr10:63170274C>T	BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.913G>A	10.37:g.63170274C>T	ENSP00000382237:p.Val305Met					TMEM26_ENST00000507507.1_5'UTR	p.V305M	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN			6	1281	-	Prostate(12;0.0112)		305					Q6ZVM0|Q8IVN9	Missense_Mutation	SNP	ENST00000399298.3	37	c.913G>A	CCDS41530.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.490649	0.26686	.	.	ENSG00000196932	ENST00000399298	.	.	.	5.75	2.46	0.29980	.	0.904447	0.09609	N	0.779206	T	0.21186	0.0510	N	0.17082	0.46	0.09310	N	0.999998	B	0.30406	0.278	B	0.21360	0.034	T	0.14615	-1.0466	9	0.46703	T	0.11	-0.2329	8.4784	0.33027	0.0:0.6912:0.1303:0.1785	.	305	Q6ZUK4	TMM26_HUMAN	M	305	.	ENSP00000382237:V305M	V	-	1	0	TMEM26	62840280	0.000000	0.05858	0.979000	0.43373	0.609000	0.37215	0.106000	0.15354	0.757000	0.33036	0.655000	0.94253	GTG		0.532	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	NM_178505		8	49	0	0	0	1	0	8	49					T	63170274	C	T	63170274	3	4	407	1	0	0	0	0	1	0	0	0	16148	507	18	2	197	2	TMEM26	10	63170274	Missense_Mutation	SNP	C	TCGA-FE-A233-01A-11D-A14W-08		63170274	72364473	7	8362											
C10orf119	79892	broad.mit.edu	37	chr10	121618395	121618395	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atatatattaaagatacataCcccacactctgctacatctc	2	12	2	1			TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr10:121618395C>A	ENST00000360003.3	-	4	497		c.e4+1		MCMBP_ENST00000466047.1_Splice_Site|MCMBP_ENST00000369077.3_Splice_Site	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein						DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						AAGATACATACCCCACACTCT	0.269																																						ENST00000360003.3																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						c.e4+1		minichromosome maintenance complex binding protein							39	40	40					10																	121618395		2201	4294	6495	SO:0001630	splice_region_variant	79892				cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding	g.chr10:121618395C>A	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"chromosome 10 open reading frame 119"	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159	ENST00000360003.3:c.327+1G>T	10.37:g.121618395C>A						MCMBP_ENST00000369077.3_Splice_Site|MCMBP_ENST00000466047.1_Splice_Site		NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN			4	497	-								B3KSP7|Q6IA56|Q9BVT9|Q9H916	Splice_Site	SNP	ENST00000360003.3	37		CCDS7617.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916588	0.73098	.	.	ENSG00000197771	ENST00000360003;ENST00000369077	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7632	0.88470	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MCMBP	121608385	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.382000	0.66213	2.281000	0.76405	0.467000	0.42956	.		0.269	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834	Intron	7	99	1	0	0.27861	1	0.27861	7	99					A	121618395	C	A	121618395	5	1	407	1	0	0	0	0	0	0	1	0	1588	521	18	4	1652	4	C10orf119	10	121618395	Splice_Site	SNP	C	TCGA-FE-A233-01A-11D-A14W-08	58448121	121618395	13916352	8	8363											
RAD51AP1	10635	broad.mit.edu	37	chr12	4657258	4657258	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttattccttatatttagGcattgaaaaacatggcagta	6	6	1	1			TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr12:4657258G>A	ENST00000544927.1	+	5	330	c.320G>A	c.(319-321)aGc>aAc	p.S107N	RAD51AP1_ENST00000352618.4_Splice_Site_p.S107N|RAD51AP1_ENST00000228843.9_Splice_Site_p.S124N|RAD51AP1_ENST00000321524.7_Splice_Site_p.S124N|RAD51AP1_ENST00000543041.1_5'UTR					RAD51 associated protein 1											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			TTATATTTAGGCATTGAAAAA	0.254																																						ENST00000228843.9																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13						c.e6-1		RAD51 associated protein 1							61	69	66					12																	4657258		2195	4288	6483	SO:0001630	splice_region_variant	10635				double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding	g.chr12:4657258G>A	AF006259	CCDS8529.1, CCDS44805.1	12p13.2-p13.1	2004-09-16			ENSG00000111247	ENSG00000111247			16956	protein-coding gene	gene with protein product		603070				9396801	Standard	NM_001130862		Approved	PIR51	uc001qmw.3	Q96B01	OTTHUMG00000168125	ENST00000544927.1:c.320-1G>A	12.37:g.4657258G>A						RAD51AP1_ENST00000544927.1_Splice_Site_p.S107_splice|RAD51AP1_ENST00000352618.4_Splice_Site_p.S107_splice|RAD51AP1_ENST00000321524.7_Splice_Site_p.S124_splice|RAD51AP1_ENST00000543041.1_5'UTR	p.S124_splice	NM_001130862.1	NP_001124334.1	Q96B01	R51A1_HUMAN	Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)		6	421	+			124						Splice_Site	SNP	ENST00000544927.1	37	c.370_splice		.	.	.	.	.	.	.	.	.	.	G	13.28	2.189731	0.38707	.	.	ENSG00000111247	ENST00000321524;ENST00000228843;ENST00000352618;ENST00000544927	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	4.86	0.667	0.17907	.	0.883383	0.10324	N	0.688437	T	0.26376	0.0644	L	0.48362	1.52	0.58432	D	0.999999	B;B;P	0.41848	0.004;0.004;0.763	B;B;B	0.41813	0.003;0.002;0.367	T	0.11421	-1.0588	9	.	.	.	.	6.3266	0.21246	0.442:0.0:0.558:0.0	.	124;124;107	Q96B01;A8K313;Q96B01-2	R51A1_HUMAN;.;.	N	124;124;107;107	ENSP00000323750:S124N;ENSP00000228843:S124N;ENSP00000309479:S107N;ENSP00000446296:S107N	.	S	+	2	0	RAD51AP1	4527519	0.555000	0.26530	0.494000	0.27515	0.264000	0.26372	0.173000	0.16724	0.254000	0.21573	0.591000	0.81541	AGC		0.254	RAD51AP1-012	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000399208.1	NM_006479	Missense_Mutation	6	118	0	0	0	1	0	6	118					A	4657258	G	A	4657258	5	1	407	1	0	0	0	0	0	0	1	0	12986	1217	42	2	393	2	RAD51AP1	12	4657258	Splice_Site	SNP	G	TCGA-FE-A233-01A-11D-A14W-08		4657258	129194637	9	8364											
ITGBL1	9358	broad.mit.edu	37	chr13	102235682	102235682	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgtagagctgtctatgacCgatattctgatgacttctgt	9	8	3	4			TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr13:102235682C>A	ENST00000376180.3	+	6	1063	c.844C>A	c.(844-846)Cga>Aga	p.R282R	ITGBL1_ENST00000545560.2_Silent_p.R141R|ITGBL1_ENST00000376162.3_Silent_p.R189R	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	282	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGTCTATGACCGATATTCTGA	0.458																																						ENST00000376180.3																			0				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31						c.(844-846)Cga>Aga		integrin, beta-like 1 (with EGF-like repeat domains)							229	220	223					13																	102235682		2203	4300	6503	SO:0001819	synonymous_variant	9358				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	g.chr13:102235682C>A	AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"ten integrin EGF-like repeat domains protein", "ITGBL1, integrin beta-like 1"	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.844C>A	13.37:g.102235682C>A						ITGBL1_ENST00000376162.3_Silent_p.R189R|ITGBL1_ENST00000545560.2_Silent_p.R141R	p.R282R	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN			6	1063	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		282			Cysteine-rich tandem repeats.		A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Silent	SNP	ENST00000376180.3	37	c.844C>A	CCDS9499.1																																																																																				0.458	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045669.2	NM_004791		74	101	1	0	4.83248e-46	1	5.6379e-46	74	101					A	102235682	C	A	102235682	2	1	407	1	0	0	0	0	0	0	0	1	7902	644	23	4		4	ITGBL1	13	102235682	Silent	SNP	C	TCGA-FE-A233-01A-11D-A14W-08		102235682	12934196	10	8365											
AHNAK2	113146	broad.mit.edu	37	chr14	105416113	105416113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgggcacctggccctccGggagcttcatgtccacttgg	12	16	1	0	rs201071549	byFrequency	TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr14:105416113G>A	ENST00000333244.5	-	7	5794	c.5675C>T	c.(5674-5676)cCg>cTg	p.P1892L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1892						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)			CTGGCCCTCCGGGAGCTTCAT	0.637													.|||	9	0.00179712	0.0015	0	5008	,	,		15029	0.0069		0	False		,,,				2504	0					ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(5674-5676)cCg>cTg		AHNAK nucleoprotein 2							76	89	85					14																	105416113		1874	4063	5937	SO:0001583	missense	113146					nucleus		g.chr14:105416113G>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.5675C>T	14.37:g.105416113G>A	ENSP00000353114:p.Pro1892Leu					AHNAK2_ENST00000557457.1_Intron	p.P1892L	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	5794	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1892					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.5675C>T	CCDS45177.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	-	11.04	1.520511	0.27211	.	.	ENSG00000185567	ENST00000333244	T	0.03272	3.99	4.34	1.36	0.22044	.	.	.	.	.	T	0.06005	0.0156	M	0.92970	3.365	0.09310	N	1	B	0.29805	0.257	B	0.23419	0.046	T	0.10405	-1.0631	9	0.72032	D	0.01	-15.9189	7.1918	0.25831	0.1539:0.0:0.7109:0.1352	.	1892	Q8IVF2	AHNK2_HUMAN	L	1892	ENSP00000353114:P1892L	ENSP00000353114:P1892L	P	-	2	0	AHNAK2	104487158	0.972000	0.33761	0.000000	0.03702	0.000000	0.00434	2.263000	0.43293	0.287000	0.22375	-0.222000	0.12452	CCG		0.637	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		11	142	0	0	0	1	0	11	142					A	105416113	G	A	105416113	3	1	407	1	0	0	0	0	1	0	0	0	415	1116	39	1	11716	1	AHNAK2	14	105416113	Missense_Mutation	SNP	G	TCGA-FE-A233-01A-11D-A14W-08		105416113	1933427	11	8366											
CDH8	1006	broad.mit.edu	37	chr16	61687975	61687975	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaatggttcatttttatgcCgccgtagagttacaaacagc	8	8	1	1			TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr16:61687975C>T	ENST00000577390.1	-	12	2891	c.1937G>A	c.(1936-1938)cGg>cAg	p.R646Q	CDH8_ENST00000577730.1_Missense_Mutation_p.R646Q|CDH8_ENST00000299345.6_Missense_Mutation_p.R646Q	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	646					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)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.R646Q(1)|p.R646L(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ATTTTTATGCCGCCGTAGAGT	0.393																																						ENST00000577390.1																			2	Substitution - Missense(2)	p.R646Q(1)|p.R646L(1)	ovary(1)|lung(1)	biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(1936-1938)cGg>cAg		cadherin 8, type 2							64	63	63					16																	61687975		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61687975C>T	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1937G>A	16.37:g.61687975C>T	ENSP00000462701:p.Arg646Gln					CDH8_ENST00000299345.6_Missense_Mutation_p.R646Q|CDH8_ENST00000577730.1_Missense_Mutation_p.R646Q	p.R646Q	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	12	2891	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	646					B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.1937G>A	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	36	5.622957	0.96660	.	.	ENSG00000150394	ENST00000299345	T	0.78816	-1.21	5.7	5.7	0.88788	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.88239	0.6383	M	0.79258	2.445	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.87239	0.2265	10	0.42905	T	0.14	.	18.8311	0.92139	0.0:1.0:0.0:0.0	.	646	P55286	CADH8_HUMAN	Q	646	ENSP00000299345:R646Q	ENSP00000299345:R646Q	R	-	2	0	CDH8	60245476	1.000000	0.71417	0.963000	0.40424	0.943000	0.58893	6.046000	0.71029	2.679000	0.91253	0.655000	0.94253	CGG		0.393	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		5	98	0	0	0	1	0	5	98					T	61687975	C	T	61687975	3	4	407	1	0	0	0	0	1	0	0	0	3116	652	23	1	466	1	CDH8	16	61687975	Missense_Mutation	SNP	C	TCGA-FE-A233-01A-11D-A14W-08		61687975	28666778	12	8367											
LRRC37A3	374819	broad.mit.edu	37	chr17	62856224	62856224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaatttatgaggctcttcGctgcagagaacggaagcctg	14	8	1	2	rs373038175		TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr17:62856224G>A	ENST00000584306.1	-	11	4570	c.4040C>T	c.(4039-4041)gCg>gTg	p.A1347V	LRRC37A3_ENST00000400877.3_Missense_Mutation_p.A385V|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.A1347V|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.A465V|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.A324V	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1347						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GAGGCTCTTCGCTGCAGAGAA	0.443																																						ENST00000584306.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(4039-4041)gCg>gTg		leucine rich repeat containing 37, member A3		G	VAL/ALA	1,4399		0,1,2199	96	103	101		4040	-0.6	0.0	17		101	1,8593		0,1,4296	no	missense	LRRC37A3	NM_199340.2	64	0,2,6495	AA,AG,GG		0.0116,0.0227,0.0154	benign	1347/1635	62856224	2,12992	2200	4297	6497	SO:0001583	missense	374819					integral to membrane		g.chr17:62856224G>A	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.4040C>T	17.37:g.62856224G>A	ENSP00000464535:p.Ala1347Val					LRRC37A3_ENST00000319651.5_Missense_Mutation_p.A1347V|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.A324V|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.A465V|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.A385V	p.A1347V	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN			11	4570	-			1347					Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	ENST00000584306.1	37	c.4040C>T	CCDS32708.1	.	.	.	.	.	.	.	.	.	.	.	0.011	-1.735720	0.00681	2.27E-4	1.16E-4	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000334962;ENST00000319651	T;T;T	0.55588	1.69;1.68;0.51	1.94	-0.615	0.11587	.	.	.	.	.	T	0.21881	0.0527	N	0.05441	-0.05	0.09310	N	1	B;B	0.18310	0.003;0.027	B;B	0.08055	0.001;0.003	T	0.25398	-1.0133	9	0.02654	T	1	.	4.4811	0.11767	0.6163:0.0:0.3837:0.0	.	465;1347	B4DG20;O60309	.;L37A3_HUMAN	V	428;385;324;1347	ENSP00000383674:A385V;ENSP00000335617:A324V;ENSP00000325713:A1347V	ENSP00000325713:A1347V	A	-	2	0	LRRC37A3	60286686	0.000000	0.05858	0.005000	0.12908	0.083000	0.17756	0.124000	0.15728	-0.182000	0.10602	0.184000	0.17185	GCG		0.443	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	NM_199340		7	182	0	0	0	1	0	7	182					A	62856224	G	A	62856224	3	1	407	1	0	0	0	0	1	0	0	0	8993	1087	38	1	880	1	LRRC37A3	17	62856224	Missense_Mutation	SNP	G	TCGA-FE-A233-01A-11D-A14W-08		62856224	18338986	13	8368											
MAP3K15	389840	broad.mit.edu	37	chrX	19506981	19506981	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtgtcggcatcggtgtcatGgtacaagatcacattattgg	12	7	2	1			TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chrX:19506981G>T	ENST00000338883.4	-	2	465	c.466C>A	c.(466-468)Cat>Aat	p.H156N	MAP3K15_ENST00000469203.2_5'Flank	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	156							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TCGGTGTCATGGTACAAGATC	0.458																																						ENST00000338883.4																			0				NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(466-468)Cat>Aat		mitogen-activated protein kinase kinase kinase 15							167	135	145					X																	19506981		1568	3582	5150	SO:0001583	missense	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19506981G>T	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.466C>A	X.37:g.19506981G>T	ENSP00000345629:p.His156Asn						p.H156N	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN			2	465	-	Hepatocellular(33;0.183)		156					A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37	c.466C>A		.	.	.	.	.	.	.	.	.	.	G	1.129	-0.652875	0.03480	.	.	ENSG00000180815	ENST00000338883	T	0.08193	3.12	5.34	3.16	0.36331	.	0.103596	0.64402	D	0.000004	T	0.03608	0.0103	N	0.05441	-0.05	0.43919	D	0.996564	.	.	.	.	.	.	T	0.37731	-0.9693	8	0.02654	T	1	.	9.2806	0.37727	0.2115:0.0:0.7885:0.0	.	.	.	.	N	156	ENSP00000345629:H156N	ENSP00000345629:H156N	H	-	1	0	MAP3K15	19416902	1.000000	0.71417	0.579000	0.28588	0.338000	0.28826	3.025000	0.49681	0.267000	0.21916	0.600000	0.82982	CAT		0.458	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		44	106	1	0	5.34276e-22	1	6.08826e-22	44	106					T	19506981	G	T	19506981	3	4	407	1	0	0	0	0	1	0	0	0	9249	1348	47	4	3587	4	MAP3K15	23	19506981	Missense_Mutation	SNP	G	TCGA-FE-A233-01A-11D-A14W-08		19506981	135763579	14	8369											
KIAA0754	643314	broad.mit.edu	37	chr1	39877399	39877399	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctcctctagttgagctacagAatcaaatctcttctgaaggg	8	10	4	3			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr1:39877399A>T	ENST00000530275.1	+	1	1249	c.1054A>T	c.(1054-1056)Aat>Tat	p.N352Y	MACF1_ENST00000372915.3_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	352										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGAGCTACAGAATCAAATCTC	0.423																																						ENST00000530275.1																			0				central_nervous_system(1)|large_intestine(6)|skin(1)	8						c.(1054-1056)Aat>Tat		KIAA0754							76	73	74					1																	39877399		1858	4099	5957	SO:0001583	missense	643314							g.chr1:39877399A>T			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.1054A>T	1.37:g.39877399A>T	ENSP00000431179:p.Asn352Tyr					MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Intron	p.N352Y	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	1249	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	352					E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37	c.1054A>T		.	.	.	.	.	.	.	.	.	.	A	11.70	1.716721	0.30413	.	.	ENSG00000255103	ENST00000530275	D	0.85702	-2.02	5.14	4.01	0.46588	.	.	.	.	.	T	0.82217	0.4989	N	0.24115	0.695	0.09310	N	1	D	0.59767	0.986	P	0.54100	0.742	T	0.72343	-0.4322	9	0.87932	D	0	.	8.854	0.35217	0.7926:0.0:0.2074:0.0	.	352	O94854	K0754_HUMAN	Y	352	ENSP00000431179:N352Y	ENSP00000431179:N352Y	N	+	1	0	RP4-562N20.1	39649986	0.985000	0.35326	0.721000	0.30653	0.297000	0.27493	2.449000	0.44935	0.810000	0.34279	-0.256000	0.11100	AAT		0.423	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		23	69	0	0	0	0.062417	0	23	69					T	39877399	A	T	39877399	3	4	408	1	0	0	0	0	1	0	0	0	8192	246	9	5	1464	5	KIAA0754	1	39877399	Missense_Mutation	SNP	A	TCGA-FE-A234-01A-11D-A14W-08		39877399	209373222	1	8370											
DTNBP1	84062	broad.mit.edu	37	chr6	15615571	15615571	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctaattcacactgcccacAtaagtcttccagatgcagca	5	13	3	1	rs149346386		TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr6:15615571A>G	ENST00000344537.5	-	6	587	c.415T>C	c.(415-417)Tgt>Cgt	p.C139R	DTNBP1_ENST00000355917.3_Missense_Mutation_p.C139R|DTNBP1_ENST00000338950.5_Missense_Mutation_p.C139R	NM_032122.4	NP_115498.2	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	139					actin cytoskeleton reorganization (GO:0031532)|anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|blood coagulation (GO:0007596)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|neuron projection morphogenesis (GO:0048812)|platelet dense granule organization (GO:0060155)|positive regulation of gene expression (GO:0010628)|positive regulation of neurotransmitter secretion (GO:0001956)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of dopamine secretion (GO:0014059)	axon (GO:0030424)|BLOC-1 complex (GO:0031083)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|growth cone (GO:0030426)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)|synaptic vesicle membrane (GO:0030672)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			CACTGCCCACATAAGTCTTCC	0.383									Hermansky-Pudlak syndrome																													ENST00000338950.5																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14						c.(415-417)Tgt>Cgt		dystrobrevin binding protein 1		A	ARG/CYS,ARG/CYS	3,4403	6.2+/-15.9	0,3,2200	142	137	138		415,415	5.5	1.0	6	dbSNP_134	138	0,8600		0,0,4300	no	missense,missense	DTNBP1	NM_032122.4,NM_183040.2	180,180	0,3,6500	GG,GA,AA		0.0,0.0681,0.0231	probably-damaging,probably-damaging	139/352,139/304	15615571	3,13003	2203	4300	6503	SO:0001583	missense	84062	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding	g.chr6:15615571A>G	AF394226	CCDS4534.1, CCDS4535.1, CCDS75404.1, CCDS75405.1	6p22.3	2013-09-27			ENSG00000047579	ENSG00000047579		"Biogenesis of lysosomal organelles complex-1 subunits"	17328	protein-coding gene	gene with protein product	"dysbindin-1", "biogenesis of lysosomal organelles complex-1, subunit 8"	607145				11316798	Standard	NM_032122		Approved	Dysbindin, My031, HPS7, DBND, BLOC1S8	uc003nbm.3	Q96EV8	OTTHUMG00000014295	ENST00000344537.5:c.415T>C	6.37:g.15615571A>G	ENSP00000341680:p.Cys139Arg					DTNBP1_ENST00000344537.5_Missense_Mutation_p.C139R|DTNBP1_ENST00000355917.3_Missense_Mutation_p.C139R	p.C139R	NM_183040.2	NP_898861.1	Q96EV8	DTBP1_HUMAN	Epithelial(50;0.211)		6	520	-	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	139					A8K3V3|Q5THY3|Q5THY4|Q96NV2|Q9H0U2|Q9H3J5	Missense_Mutation	SNP	ENST00000344537.5	37	c.415T>C	CCDS4534.1	.	.	.	.	.	.	.	.	.	.	A	19.24	3.789153	0.70337	6.81E-4	0.0	ENSG00000047579	ENST00000344537;ENST00000355917;ENST00000397306;ENST00000511762;ENST00000338950;ENST00000543749	T;T;T	0.34667	1.35;1.35;1.39	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000007	T	0.52141	0.1716	M	0.73962	2.25	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.997	D;D;D	0.76575	0.979;0.988;0.977	T	0.58864	-0.7561	10	0.72032	D	0.01	-15.6348	14.5774	0.68258	1.0:0.0:0.0:0.0	.	139;139;139	F5GY46;Q96EV8-2;Q96EV8	.;.;DTBP1_HUMAN	R	139;139;58;104;139;139	ENSP00000341680:C139R;ENSP00000348183:C139R;ENSP00000344718:C139R	ENSP00000344718:C139R	C	-	1	0	DTNBP1	15723550	1.000000	0.71417	0.985000	0.45067	0.972000	0.66771	6.457000	0.73505	2.089000	0.63090	0.533000	0.62120	TGT		0.383	DTNBP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000039933.2	NM_032122		4	91	0	0	0	0.009096	0	4	91					G	15615571	A	G	15615571	3	3	408	1	0	0	0	0	1	0	0	0	4790	217	8	3	761	3	DTNBP1	6	15615571	Missense_Mutation	SNP	A	TCGA-FE-A234-01A-11D-A14W-08		15615571	155499496	2	8371											
MUC21	394263	broad.mit.edu	37	chr6	30954379	30954379	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccaactctgactccagcacaAcctccagtggggctagcaca	8	16	1	1			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr6:30954379A>T	ENST00000376296.3	+	2	668	c.427A>T	c.(427-429)Acc>Tcc	p.T143S	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	143	28 X 15 AA approximate tandem repeats.|Ser-rich.			T -> L (in Ref. 3; AAQ88781 and 4; CAQ08321). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CTCCAGCACAACCTCCAGTGG	0.617																																						ENST00000376296.3																			0				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(427-429)Acc>Tcc		mucin 21, cell surface associated							156	147	150					6																	30954379		2203	4300	6503	SO:0001583	missense	394263					integral to membrane|plasma membrane		g.chr6:30954379A>T	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"Mucins"	21661	protein-coding gene	gene with protein product	"epiglycanin"		"chromosome 6 open reading frame 205"	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.427A>T	6.37:g.30954379A>T	ENSP00000365473:p.Thr143Ser					MUC21_ENST00000486149.2_5'UTR	p.T143S	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN			2	668	+			143	T -> L (in Ref. 3; AAQ88781 and 4; CAQ08321).		28 X 15 AA approximate tandem repeats.|Ser-rich.		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	c.427A>T	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	a	7.777	0.708617	0.15239	.	.	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.03330	3.97	3.52	-6.09	0.02145	.	.	.	.	.	T	0.00695	0.0023	L	0.29908	0.895	0.09310	N	1	B	0.27932	0.194	B	0.29785	0.107	T	0.47898	-0.9081	8	.	.	.	0.0862	2.0111	0.03488	0.3233:0.1595:0.383:0.1342	.	143	Q5SSG8	MUC21_HUMAN	S	143	ENSP00000365473:T143S	.	T	+	1	0	MUC21	31062358	0.026000	0.19158	0.000000	0.03702	0.000000	0.00434	0.077000	0.14738	-1.041000	0.03266	-4.622000	0.00004	ACC		0.617	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		11	251	0	0	0	0.080935	0	11	251					T	30954379	A	T	30954379	3	4	408	1	0	0	0	0	1	0	0	0	9977	43	2	5	433	5	MUC21	6	30954379	Missense_Mutation	SNP	A	TCGA-FE-A234-01A-11D-A14W-08	15338808	30954379	140160688	3	8372											
TRRAP	8295	broad.mit.edu	37	chr7	98501102	98501102	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcagaaaggagcttctgaTtgctgccaaacacatcctca	7	13	3	2			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr7:98501102T>C	ENST00000359863.4	+	12	1207	c.998T>C	c.(997-999)aTt>aCt	p.I333T	TRRAP_ENST00000446306.3_Missense_Mutation_p.I333T|TRRAP_ENST00000355540.3_Missense_Mutation_p.I333T	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	333					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)			GAGCTTCTGATTGCTGCCAAA	0.488																																						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.(997-999)aTt>aCt		transformation/transcription domain-associated protein							200	173	182					7																	98501102		2203	4300	6503	SO:0001583	missense	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.chr7:98501102T>C	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.998T>C	7.37:g.98501102T>C	ENSP00000352925:p.Ile333Thr					TRRAP_ENST00000355540.3_Missense_Mutation_p.I333T|TRRAP_ENST00000446306.3_Missense_Mutation_p.I333T	p.I333T	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		12	1207	+	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)		333					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.998T>C	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	T	19.30	3.801318	0.70567	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.65364	3.57;-0.15	5.63	5.63	0.86233	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79563	0.4467	M	0.84326	2.69	0.80722	D	1	D;P;P	0.53462	0.96;0.932;0.932	D;P;P	0.64237	0.923;0.84;0.84	T	0.81072	-0.1098	10	0.48119	T	0.1	.	16.1339	0.81465	0.0:0.0:0.0:1.0	.	333;47;333	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	T	333	ENSP00000352925:I333T;ENSP00000347733:I333T	ENSP00000347733:I333T	I	+	2	0	TRRAP	98339038	1.000000	0.71417	0.899000	0.35326	0.998000	0.95712	7.915000	0.87484	2.271000	0.75665	0.533000	0.62120	ATT		0.488	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		3	111	0	0	0	0.009096	0	3	111					C	98501102	T	C	98501102	3	2	408	1	0	0	0	0	1	0	0	0	16598	1493	52	3	1040	3	TRRAP	7	98501102	Missense_Mutation	SNP	T	TCGA-FE-A234-01A-11D-A14W-08		98501102	60637561	4	8373											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		13	14	0	0	0	0.020292	0	13	14					T	140453136	A	T	140453136	3	4	408	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FE-A234-01A-11D-A14W-08	41952034	140453136	18685527	5	8374											
RAPGEF1	2889	broad.mit.edu	37	chr9	134455701	134455701	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttgaactgctgccaccgcTtggagaagttcactttcccg	10	12	1	2			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr9:134455701T>C	ENST00000372189.3	-	23	3155	c.3032A>G	c.(3031-3033)aAg>aGg	p.K1011R	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.K1029R|RAPGEF1_ENST00000372195.1_Missense_Mutation_p.K1028R	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	1011	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CTGCCACCGCTTGGAGAAGTT	0.637																																						ENST00000372195.1																			0				NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(3082-3084)aAg>aGg		Rap guanine nucleotide exchange factor (GEF) 1							75	82	80					9																	134455701		2122	4232	6354	SO:0001583	missense	2889				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr9:134455701T>C	BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.3032A>G	9.37:g.134455701T>C	ENSP00000361263:p.Lys1011Arg					RAPGEF1_ENST00000372189.3_Missense_Mutation_p.K1011R|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.K1029R	p.K1028R			Q13905	RPGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)	23	3326	-		Myeloproliferative disorder(178;0.204)	1011			Ras-GEF.		Q5JUE4|Q8IV73	Missense_Mutation	SNP	ENST00000372189.3	37	c.3083A>G	CCDS48047.1	.	.	.	.	.	.	.	.	.	.	T	18.58	3.654743	0.67472	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000357686	T;T;T	0.61274	0.12;0.12;0.12	4.65	4.65	0.58169	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine-nucleotide exchange factor, conserved site (1);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.74061	0.3667	M	0.91920	3.255	0.58432	D	0.999999	D;P	0.52996	0.957;0.811	P;B	0.52646	0.705;0.331	T	0.81380	-0.0959	10	0.87932	D	0	.	13.2356	0.59967	0.0:0.0:0.0:1.0	.	1011;1029	Q13905;Q13905-3	RPGF1_HUMAN;.	R	1011;1028;957;1011;1029;991;989;1028	ENSP00000361269:K1028R;ENSP00000361263:K1011R;ENSP00000361264:K1029R	ENSP00000266110:K1011R	K	-	2	0	RAPGEF1	133445522	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	7.584000	0.82572	1.721000	0.51461	0.459000	0.35465	AAG		0.637	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312		7	25	0	0	0	0.038147	0	7	25					C	134455701	T	C	134455701	3	2	408	1	0	0	0	0	1	0	0	0	13043	1609	56	3	209	3	RAPGEF1	9	134455701	Missense_Mutation	SNP	T	TCGA-FE-A234-01A-11D-A14W-08		134455701	6757730	6	8375											
OR5M3	219482	broad.mit.edu	37	chr11	56237294	56237294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgccttccttctgctgagCgcattcgcagaatggcaatg	10	12	2	2	rs144814707	byFrequency	TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr11:56237294C>T	ENST00000312240.2	-	1	720	c.680G>A	c.(679-681)cGc>cAc	p.R227H		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TTCTGCTGAGCGCATTCGCAG	0.418													t|||	12	0.00239617	0	0	5008	,	,		21294	0.0109		0	False		,,,				2504	0.001					ENST00000312240.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(679-681)cGc>cAc		olfactory receptor, family 5, subfamily M, member 3		T	HIS/ARG	2,4400	819.3+/-416.3	0,2,2199	60	58	59		680	-9.0	0.0	11	dbSNP_134	59	0,8584		0,0,4292	no	missense	OR5M3	NM_001004742.2	29	0,2,6491	TT,TC,CC		0.0,0.0454,0.0154	benign	227/308	56237294	2,12984	2201	4292	6493	SO:0001583	missense	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237294C>T	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"GPCR / Class A : Olfactory receptors"	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.680G>A	11.37:g.56237294C>T	ENSP00000312208:p.Arg227His						p.R227H	NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN			1	720	-	Esophageal squamous(21;0.00448)		227					B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	c.680G>A	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	T	0.607	-0.826494	0.02734	4.54E-4	0.0	ENSG00000174937	ENST00000312240	T	0.39229	1.09	5.08	-9.04	0.00734	GPCR, rhodopsin-like superfamily (1);	0.719989	0.11980	N	0.510873	T	0.22936	0.0554	N	0.25890	0.77	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.28299	-1.0048	10	0.13108	T	0.6	0.0056	14.5022	0.67729	0.0:0.3844:0.0:0.6156	.	227	Q8NGP4	OR5M3_HUMAN	H	227	ENSP00000312208:R227H	ENSP00000312208:R227H	R	-	2	0	OR5M3	55993870	0.000000	0.05858	0.002000	0.10522	0.121000	0.20230	-6.039000	0.00084	-2.044000	0.00911	-1.040000	0.02373	CGC		0.418	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		11	13	0	0	0	0.069234	0	11	13					T	56237294	C	T	56237294	3	4	408	1	0	0	0	0	1	0	0	0	11175	768	27	1	245	1	OR5M3	11	56237294	Missense_Mutation	SNP	C	TCGA-FE-A234-01A-11D-A14W-08		56237294	78769222	7	8376											
SEMA7A	8482	broad.mit.edu	37	chr15	74710610	74710610	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taccccctcccccactcaccCgcttatccagacaggacccc	4	23	1	1			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr15:74710610C>A	ENST00000261918.4	-	3	919	c.371G>T	c.(370-372)cGg>cTg	p.R124L	SEMA7A_ENST00000543145.2_Intron|SEMA7A_ENST00000542748.1_5'UTR	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	124	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						CCCACTCACCCGCTTATCCAG	0.582																																						ENST00000261918.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						c.e3+1		semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)							61	55	57					15																	74710610		2197	4296	6493	SO:0001630	splice_region_variant	8482				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	g.chr15:74710610C>A	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"Semaphorins", "CD molecules", "Blood group antigens", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10741	protein-coding gene	gene with protein product	"John Milton Hagen blood group", "H-Sema K1"	607961	"sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A", "sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.372+1G>T	15.37:g.74710610C>A						SEMA7A_ENST00000542748.1_5'UTR|SEMA7A_ENST00000543145.2_Intron	p.R124_splice	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN			3	919	-			124			Sema.		B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Splice_Site	SNP	ENST00000261918.4	37	c.372_splice	CCDS10262.1	.	.	.	.	.	.	.	.	.	.	C	9.891	1.204332	0.22205	.	.	ENSG00000138623	ENST00000261918	T	0.10763	2.84	4.42	-6.84	0.01687	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	1.534590	0.03591	N	0.231788	T	0.04182	0.0116	N	0.03268	-0.37	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24548	-1.0157	10	0.39692	T	0.17	-5.9723	5.6204	0.17453	0.2363:0.1976:0.0:0.5661	.	124	O75326	SEM7A_HUMAN	L	124	ENSP00000261918:R124L	ENSP00000261918:R124L	R	-	2	0	SEMA7A	72497663	0.000000	0.05858	0.546000	0.28166	0.799000	0.45148	-2.119000	0.01324	-1.230000	0.02561	-0.150000	0.13652	CGG		0.582	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612	Missense_Mutation	3	46	1	0	0.004672	0.004672	0.004964	3	46					A	74710610	C	A	74710610	5	1	408	1	0	0	0	0	0	0	1	0	14043	666	23	4	1677	4	SEMA7A	15	74710610	Splice_Site	SNP	C	TCGA-FE-A234-01A-11D-A14W-08		74710610	27820782	8	8377											
MBTPS1	8720	broad.mit.edu	37	chr16	84089661	84089661	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggggacaagggcctcacttGagggcgattcgatcgaaagt	15	8	1	1			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr16:84089661G>T	ENST00000343411.3	-	22	3406	c.2911C>A	c.(2911-2913)Caa>Aaa	p.Q971K		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	971					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GGCCTCACTTGAGGGCGATTC	0.493																																						ENST00000343411.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2911-2913)Caa>Aaa		membrane-bound transcription factor peptidase, site 1							111	102	105					16																	84089661		2200	4300	6500	SO:0001583	missense	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84089661G>T	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"membrane-bound transcription factor protease, site 1"			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.2911C>A	16.37:g.84089661G>T	ENSP00000344223:p.Gln971Lys						p.Q971K	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN			22	3406	-			971					A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	c.2911C>A	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904583	0.72868	.	.	ENSG00000140943	ENST00000343411;ENST00000347334	T	0.28895	1.59	5.65	5.65	0.86999	.	0.192635	0.47093	D	0.000257	T	0.43433	0.1247	L	0.36672	1.1	0.80722	D	1	P	0.40332	0.713	P	0.54815	0.761	T	0.03576	-1.1023	10	0.25106	T	0.35	-13.9444	19.7405	0.96228	0.0:0.0:1.0:0.0	.	971	Q14703	MBTP1_HUMAN	K	971;416	ENSP00000344223:Q971K	ENSP00000344223:Q971K	Q	-	1	0	MBTPS1	82647162	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.705000	0.98719	2.655000	0.90218	0.655000	0.94253	CAA		0.493	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		25	67	1	0	8.24728e-16	0.099896	9.34692e-16	25	67					T	84089661	G	T	84089661	3	4	408	1	0	0	0	0	1	0	0	0	9361	1299	45	4	255	4	MBTPS1	16	84089661	Missense_Mutation	SNP	G	TCGA-FE-A234-01A-11D-A14W-08		84089661	6265092	9	8378											
ANKRD27	84079	broad.mit.edu	37	chr19	33137489	33137489	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agacaggcaaaaccagctccTaatttaatcctgttcccttg	6	12	0	1			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr19:33137489T>C	ENST00000306065.4	-	4	404	c.246A>G	c.(244-246)ttA>ttG	p.L82L	ANKRD27_ENST00000587352.1_Silent_p.L82L	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	82					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					AACCAGCTCCTAATTTAATCC	0.473																																						ENST00000306065.4																			0				breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42						c.(244-246)ttA>ttG		ankyrin repeat domain 27 (VPS9 domain)							74	74	74					19																	33137489		2203	4300	6503	SO:0001819	synonymous_variant	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33137489T>C	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"Ankyrin repeat domain containing"	25310	protein-coding gene	gene with protein product	"Vps9 domain and ankyrin-repeat-containing protein"					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.246A>G	19.37:g.33137489T>C						ANKRD27_ENST00000587352.1_Silent_p.L82L|ANKRD27_ENST00000586693.2_5'UTR	p.L82L	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN			4	404	-	Esophageal squamous(110;0.137)		82					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Silent	SNP	ENST00000306065.4	37	c.246A>G	CCDS32986.1																																																																																				0.473	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		3	53	0	0	0	0.004672	0	3	53					C	33137489	T	C	33137489	2	2	408	1	0	0	0	0	0	0	0	1	655	1519	53	3		3	ANKRD27	19	33137489	Silent	SNP	T	TCGA-FE-A234-01A-11D-A14W-08		33137489	25991494	10	8379											
RYR1	6261	broad.mit.edu	37	chr19	38934209	38934209	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctgcagtcatcccagggCgggggacacaggacgctcct	13	16	1	0	rs139629035		TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr19:38934209C>T	ENST00000359596.3	+	4	282	c.282C>T	c.(280-282)ggC>ggT	p.G94G	RYR1_ENST00000360985.3_Silent_p.G94G|RYR1_ENST00000355481.4_Silent_p.G94G			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	94					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CATCCCAGGGCGGGGGACACA	0.632													C|||	1	0.000199681	0	0	5008	,	,		18288	0		0.001	False		,,,				2504	0					ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(280-282)ggC>ggT		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)	C	,	0,4406		0,0,2203	47	45	46		282,282	-5.6	0.9	19	dbSNP_134	46	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	RYR1	NM_000540.2,NM_001042723.1	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	94/5039,94/5034	38934209	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38934209C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.282C>T	19.37:g.38934209C>T						RYR1_ENST00000360985.3_Silent_p.G94G|RYR1_ENST00000359596.3_Silent_p.G94G	p.G94G	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		4	413	+	all_cancers(60;7.91e-06)		94					Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.282C>T	CCDS33011.1																																																																																				0.632	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			16	27	0	0	0	0.024245	0	16	27					T	38934209	C	T	38934209	2	4	408	1	0	0	0	0	0	0	0	1	13768	755	27	1		1	RYR1	19	38934209	Silent	SNP	C	TCGA-FE-A234-01A-11D-A14W-08	5796720	38934209	20194774	11	8380											
PPP1R15A	23645	broad.mit.edu	37	chr19	49377662	49377662	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcttgaagtcctgggtctAtcagccaggagaggacacag	12	10	3	2	rs142855954		TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr19:49377662A>G	ENST00000200453.5	+	2	1441	c.1172A>G	c.(1171-1173)tAt>tGt	p.Y391C		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	391	4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		TCCTGGGTCTATCAGCCAGGA	0.527																																						ENST00000200453.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23						c.(1171-1173)tAt>tGt		protein phosphatase 1, regulatory subunit 15A		A	CYS/TYR	0,4406		0,0,2203	113	112	112		1172	-0.0	0.1	19	dbSNP_134	112	2,8598	2.2+/-6.3	0,2,4298	no	missense	PPP1R15A	NM_014330.3	194	0,2,6501	GG,GA,AA		0.0233,0.0,0.0154	probably-damaging	391/675	49377662	2,13004	2203	4300	6503	SO:0001583	missense	23645				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	g.chr19:49377662A>G	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14375	protein-coding gene	gene with protein product	"growth arrest and DNA-damage-inducible 34"	611048	"protein phosphatase 1, regulatory (inhibitor) subunit 15A"			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.1172A>G	19.37:g.49377662A>G	ENSP00000200453:p.Tyr391Cys						p.Y391C	NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)	2	1441	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	391			4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7.		B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	c.1172A>G	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	A	11.05	1.524878	0.27299	0.0	2.33E-4	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.14022	2.54	4.91	-0.0188	0.13962	.	0.554222	0.15322	N	0.268477	T	0.22589	0.0545	L	0.61036	1.89	0.09310	N	0.999994	D	0.76494	0.999	D	0.63488	0.915	T	0.12967	-1.0527	10	0.66056	D	0.02	-0.6858	1.0618	0.01602	0.4201:0.166:0.0925:0.3213	.	391	O75807	PR15A_HUMAN	C	391;231;349	ENSP00000200453:Y391C	ENSP00000200453:Y391C	Y	+	2	0	PPP1R15A	54069474	0.000000	0.05858	0.127000	0.21898	0.053000	0.15095	-0.314000	0.08092	0.006000	0.14734	-0.309000	0.09137	TAT		0.527	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		4	159	0	0	0	0.009096	0	4	159					G	49377662	A	G	49377662	3	3	408	1	0	0	0	0	1	0	0	0	12363	449	16	3	1174	3	PPP1R15A	19	49377662	Missense_Mutation	SNP	A	TCGA-FE-A234-01A-11D-A14W-08	10443453	49377662	9751321	12	8381											
NLRP4	147945	broad.mit.edu	37	chr19	56369469	56369469	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgacagcttcgaagagctgcAgggcggcttgaacgaacccg	14	12	0	2			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr19:56369469A>G	ENST00000301295.6	+	3	1132	c.710A>G	c.(709-711)cAg>cGg	p.Q237R	NLRP4_ENST00000587891.1_Missense_Mutation_p.Q162R|NLRP4_ENST00000346986.5_Missense_Mutation_p.Q237R	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	237	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GAAGAGCTGCAGGGCGGCTTG	0.542																																						ENST00000301295.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(709-711)cAg>cGg		NLR family, pyrin domain containing 4							81	83	82					19																	56369469		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56369469A>G	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.710A>G	19.37:g.56369469A>G	ENSP00000301295:p.Gln237Arg					NLRP4_ENST00000346986.5_Missense_Mutation_p.Q237R|NLRP4_ENST00000587891.1_Missense_Mutation_p.Q162R	p.Q237R	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	1132	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	237			NACHT.		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.710A>G	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	A	9.661	1.144099	0.21205	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.78246	-1.16;-1.16	4.1	-4.75	0.03239	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.43010	0.1228	N	0.04297	-0.235	0.09310	N	1	B;B;B	0.13145	0.0;0.001;0.007	B;B;B	0.15052	0.0;0.005;0.012	T	0.41448	-0.9508	9	0.07482	T	0.82	.	0.1623	0.00104	0.3151:0.2509:0.1783:0.2557	.	237;162;237	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	R	237	ENSP00000301295:Q237R;ENSP00000344787:Q237R	ENSP00000301295:Q237R	Q	+	2	0	NLRP4	61061281	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.071000	0.14594	-1.300000	0.02341	0.533000	0.62120	CAG		0.542	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		4	101	0	0	0	0.009096	0	4	101					G	56369469	A	G	56369469	3	3	408	1	0	0	0	0	1	0	0	0	10479	188	7	3	716	3	NLRP4	19	56369469	Missense_Mutation	SNP	A	TCGA-FE-A234-01A-11D-A14W-08	6991807	56369469	2759514	13	8382											
NPR1	4881	broad.mit.edu	37	chr1	153660571	153660571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgagcagccccccttccGgccctccctggccctgcaga	12	19	0	2			TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chr1:153660571G>A	ENST00000368680.3	+	15	2763	c.2291G>A	c.(2290-2292)cGg>cAg	p.R764Q		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	764	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CCCCCCTTCCGGCCCTCCCTG	0.657																																					Pancreas(141;1349 1870 15144 15830 40702)	ENST00000368680.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(2290-2292)cGg>cAg		natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)						50	53	52					1																	153660571		2203	4299	6502	SO:0001583	missense	4881				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	g.chr1:153660571G>A	BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"guanylate cyclase A"	108960	"atrionatriuretic peptide receptor A", "natriuretic peptide receptor A"	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.2291G>A	1.37:g.153660571G>A	ENSP00000357669:p.Arg764Gln						p.R764Q	NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		15	2763	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		764			Protein kinase.		B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	ENST00000368680.3	37	c.2291G>A	CCDS1051.1	.	.	.	.	.	.	.	.	.	.	g	22.7	4.327672	0.81690	.	.	ENSG00000169418	ENST00000368680;ENST00000428723	D	0.82433	-1.61	4.02	3.11	0.35812	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.082914	0.46758	D	0.000261	D	0.90038	0.6889	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91150	0.4952	10	0.66056	D	0.02	.	11.2084	0.48784	0.0:0.0:0.815:0.185	.	243;764	B7Z4Y7;P16066	.;ANPRA_HUMAN	Q	764;243	ENSP00000357669:R764Q	ENSP00000357669:R764Q	R	+	2	0	NPR1	151927195	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.639000	0.83342	1.071000	0.40834	-0.372000	0.07161	CGG		0.657	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		26	44	0	0	0	0.027356	0	26	44					A	153660571	G	A	153660571	3	1	409	1	0	0	0	0	1	0	0	0	10594	1116	39	1	2349	1	NPR1	1	153660571	Missense_Mutation	SNP	G	TCGA-FE-A235-01A-11D-A16O-08		153660571	95590050	1	8383											
KCNN3	3782	broad.mit.edu	37	chr1	154841828	154841828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaagctggaggggttggcCctcagtctcggcctcgatga	15	10	2	1			TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chr1:154841828C>T	ENST00000271915.4	-	1	928	c.613G>A	c.(613-615)Ggc>Agc	p.G205S	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	210					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	AGGGGTTGGCCCTCAGTCTCG	0.632																																						ENST00000271915.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(613-615)Ggc>Agc		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3							49	50	49					1																	154841828		2203	4300	6503	SO:0001583	missense	3782					integral to membrane	calmodulin binding	g.chr1:154841828C>T	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.613G>A	1.37:g.154841828C>T	ENSP00000271915:p.Gly205Ser						p.G205S	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		1	928	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		210					B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	ENST00000271915.4	37	c.613G>A	CCDS30880.1	.	.	.	.	.	.	.	.	.	.	C	8.386	0.838543	0.16891	.	.	ENSG00000143603	ENST00000271915	D	0.94330	-3.4	4.75	2.72	0.32119	.	0.155049	0.30649	N	0.009166	T	0.63295	0.2499	N	0.08118	0	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.63989	-0.6512	10	0.02654	T	1	-20.4673	3.0661	0.06214	0.2162:0.5562:0.0:0.2275	.	211;210	Q6JXY2;Q9UGI6	.;KCNN3_HUMAN	S	205	ENSP00000271915:G205S	ENSP00000271915:G205S	G	-	1	0	KCNN3	153108452	0.997000	0.39634	1.000000	0.80357	0.988000	0.76386	0.351000	0.20096	1.221000	0.43506	0.561000	0.74099	GGC		0.632	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		32	33	0	0	0	0.013726	0	32	33					T	154841828	C	T	154841828	3	4	409	1	0	0	0	0	1	0	0	0	8080	623	22	2	1636	2	KCNN3	1	154841828	Missense_Mutation	SNP	C	TCGA-FE-A235-01A-11D-A16O-08	1181257	154841828	94408793	2	8384											
TIA1	7072	broad.mit.edu	37	chr2	70439917	70439917	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaacatgctgccattttgCccttgaggcggttgcactcc	11	13	0	1			TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chr2:70439917C>T	ENST00000433529.2	-	13	1305	c.1095G>A	c.(1093-1095)ggG>ggA	p.G365G	TIA1_ENST00000445587.1_Silent_p.G264G|TIA1_ENST00000482876.1_5'Flank|TIA1_ENST00000415783.2_Silent_p.G354G|C2orf42_ENST00000470096.1_Intron|TIA1_ENST00000282574.4_Silent_p.G364G	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	365					apoptotic process (GO:0006915)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of translation (GO:0017148)|regulation of mRNA splicing, via spliceosome (GO:0048024)	cytoplasmic stress granule (GO:0010494)|nuclear stress granule (GO:0097165)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						TGCCATTTTGCCCTTGAGGCG	0.502																																						ENST00000433529.2																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						c.(1093-1095)ggG>ggA		TIA1 cytotoxic granule-associated RNA binding protein							141	126	131					2																	70439917		2203	4300	6503	SO:0001819	synonymous_variant	7072				apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding	g.chr2:70439917C>T		CCDS1900.1, CCDS1901.1	2p13	2013-02-12	2001-11-28		ENSG00000116001	ENSG00000116001		"RNA binding motif (RRM) containing"	11802	protein-coding gene	gene with protein product	"T-cell-restricted intracellular antigen-1", "nucleolysin TIA-1 isoform p40"	603518	"TIA1 cytotoxic granule-associated RNA-binding protein"			8176212, 12486009	Standard	NM_022173		Approved		uc002sgj.4	P31483	OTTHUMG00000129644	ENST00000433529.2:c.1095G>A	2.37:g.70439917C>T						TIA1_ENST00000282574.4_Silent_p.G364G|TIA1_ENST00000415783.2_Silent_p.G354G|C2orf42_ENST00000470096.1_Intron|TIA1_ENST00000445587.1_Silent_p.G264G	p.G365G	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN			13	1305	-			365					Q53SS9	Silent	SNP	ENST00000433529.2	37	c.1095G>A	CCDS1901.1																																																																																				0.502	TIA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251842.2	NM_022037		4	130	0	0	0	0.009096	0	4	130					T	70439917	C	T	70439917	2	4	409	1	0	0	0	0	0	0	0	1	15884	726	26	2		2	TIA1	2	70439917	Silent	SNP	C	TCGA-FE-A235-01A-11D-A16O-08		70439917	172759456	3	8385											
SLC2A9	56606	broad.mit.edu	37	chr4	9982230	9982230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actcacctttcccagcagctCgggcaggcccagaagctgcc	10	17	1	1	rs147289616	byFrequency	TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chr4:9982230C>T	ENST00000264784.3	-	5	720	c.667G>A	c.(667-669)Gag>Aag	p.E223K	SLC2A9_ENST00000506583.1_Missense_Mutation_p.E194K|SLC2A9_ENST00000309065.3_Missense_Mutation_p.E194K	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	223					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)	CCCAGCAGCTCGGGCAGGCCC	0.567																																						ENST00000506583.1																			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.(580-582)Gag>Aag		solute carrier family 2 (facilitated glucose transporter), member 9		C	LYS/GLU,LYS/GLU	2,4404	4.2+/-10.8	0,2,2201	61	55	57		580,667	3.8	0.8	4	dbSNP_134	57	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SLC2A9	NM_001001290.1,NM_020041.2	56,56	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging,probably-damaging	194/512,223/541	9982230	3,13003	2203	4300	6503	SO:0001583	missense	56606				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	g.chr4:9982230C>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.667G>A	4.37:g.9982230C>T	ENSP00000264784:p.Glu223Lys					SLC2A9_ENST00000264784.3_Missense_Mutation_p.E223K|SLC2A9_ENST00000309065.3_Missense_Mutation_p.E194K	p.E194K			Q9NRM0	GTR9_HUMAN			7	797	-			223					Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	ENST00000264784.3	37	c.580G>A	CCDS3407.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.742241	0.49151	4.54E-4	1.16E-4	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065;ENST00000513129	T;T;T;D	0.87729	0.33;-1.4;0.33;-2.29	4.66	3.81	0.43845	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.127237	0.51477	N	0.000086	D	0.84252	0.5431	L	0.60904	1.88	0.41440	D	0.987918	B;P	0.35411	0.301;0.5	B;B	0.37198	0.112;0.243	T	0.80968	-0.1145	9	.	.	.	.	12.1394	0.53989	0.0:0.8067:0.1933:0.0	.	194;223	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	K	194;223;194;194	ENSP00000422209:E194K;ENSP00000264784:E223K;ENSP00000311383:E194K;ENSP00000426800:E194K	.	E	-	1	0	SLC2A9	9591328	0.996000	0.38824	0.784000	0.31847	0.751000	0.42716	3.454000	0.52986	0.908000	0.36671	0.650000	0.86243	GAG		0.567	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1			5	49	0	0	0	0.021553	0	5	49					T	9982230	C	T	9982230	3	4	409	1	0	0	0	0	1	0	0	0	14552	893	31	1	987	1	SLC2A9	4	9982230	Missense_Mutation	SNP	C	TCGA-FE-A235-01A-11D-A16O-08		9982230	181172046	4	8386											
FIP1L1	81608	broad.mit.edu	37	chr4	54310242	54310242	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctctggttatgatagtcgTtctgcacgtgcatttccata	8	10	2	1			TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chr4:54310242T>C	ENST00000337488.6	+	15	1451	c.1257T>C	c.(1255-1257)cgT>cgC	p.R419R	FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000358575.5_Silent_p.R413R|FIP1L1_ENST00000306932.6_Silent_p.R345R	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	419					mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ATGATAGTCGTTCTGCACGTG	0.303			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	ENST00000337488.6				Dom	yes		4	4q12	81608	T	FIP1 like 1 (S. cerevisiae)			L	PDGFRA		idiopathic hypereosinophilic syndrome		0				large_intestine(3)|liver(1)|ovary(1)|skin(1)	6						c.(1255-1257)cgT>cgC		factor interacting with PAPOLA and CPSF1							175	164	168					4																	54310242		2203	4298	6501	SO:0001819	synonymous_variant	81608				mRNA processing	nucleus	RNA binding	g.chr4:54310242T>C	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"FIP1 like 1 (S. cerevisiae)", "FIP1L1 cleavage and polyadenylation specific factor subunit"			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1257T>C	4.37:g.54310242T>C						FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000306932.6_Silent_p.R345R|FIP1L1_ENST00000358575.5_Silent_p.R413R	p.R419R	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)		15	1451	+			419					B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Silent	SNP	ENST00000337488.6	37	c.1257T>C	CCDS3491.1																																																																																				0.303	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917		3	82	0	0	0	0.014758	0	3	82					C	54310242	T	C	54310242	2	2	409	1	0	0	0	0	0	0	0	1	5896	1712	60	3		3	FIP1L1	4	54310242	Silent	SNP	T	TCGA-FE-A235-01A-11D-A16O-08	44328012	54310242	136844034	5	8387											
TMPRSS11F	389208	broad.mit.edu	37	chr4	68939712	68939712	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accgcctacagaagaatgtcGaaatatcctagacatctgat	7	10	1	4	rs542655796		TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chr4:68939712G>A	ENST00000356291.2	-	4	357	c.298C>T	c.(298-300)Cga>Tga	p.R100*	UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000511571.1_RNA|UBA6-AS1_ENST00000499180.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	100	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						GAAGAATGTCGAAATATCCTA	0.244													g|||	1	0.000199681	0	0	5008	,	,		16271	0.001		0	False		,,,				2504	0					ENST00000356291.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						c.(298-300)Cga>Tga		transmembrane protease, serine 11F							30	29	29					4																	68939712		2196	4293	6489	SO:0001587	stop_gained	389208				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68939712G>A	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"Serine peptidases / Transmembrane"	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.298C>T	4.37:g.68939712G>A	ENSP00000348639:p.Arg100*					RP11-453E17.1_ENST00000511571.1_RNA|RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000499180.2_RNA	p.R100*	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN			4	357	-			100			SEA.		A8MXX2	Nonsense_Mutation	SNP	ENST00000356291.2	37	c.298C>T	CCDS3520.1	.	.	.	.	.	.	.	.	.	.	g	22.1	4.251053	0.80135	.	.	ENSG00000198092	ENST00000356291	.	.	.	5.53	3.8	0.43715	.	0.436137	0.19621	N	0.109909	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.3813	0.38316	0.0:0.1567:0.6804:0.1629	.	.	.	.	X	100	.	ENSP00000348639:R100X	R	-	1	2	TMPRSS11F	68622307	0.664000	0.27457	0.997000	0.53966	0.573000	0.36030	0.786000	0.26844	0.695000	0.31675	-0.121000	0.15023	CGA		0.244	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407		10	16	0	0	0	0.008291	0	10	16					A	68939712	G	A	68939712	4	1	409	1	0	0	0	0	0	1	0	0	16240	1066	37	1	1046	1	TMPRSS11F	4	68939712	Nonsense_Mutation	SNP	G	TCGA-FE-A235-01A-11D-A16O-08	14629470	68939712	122214564	6	8388											
PRDM9	56979	broad.mit.edu	37	chr5	23526762	23526762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtaggaatctcaagaattgCaaaagtcaagtatggagagt	12	4	2	2			TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chr5:23526762C>T	ENST00000296682.3	+	11	1747	c.1565C>T	c.(1564-1566)gCa>gTa	p.A522V		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	522					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCAAGAATTGCAAAAGTCAAG	0.433										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(1564-1566)gCa>gTa		PR domain containing 9							103	104	104					5																	23526762		2052	4230	6282	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526762C>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1565C>T	5.37:g.23526762C>T	ENSP00000296682:p.Ala522Val	HNSCC(3;0.000094)					p.A522V	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			11	1747	+			522					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.1565C>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	7.919	0.738232	0.15574	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.08634	3.07	2.43	-4.86	0.03132	.	1.776670	0.03697	N	0.247961	T	0.04497	0.0123	N	0.16478	0.41	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.37798	-0.9690	10	0.21014	T	0.42	1.344	3.6377	0.08155	0.1903:0.4564:0.0:0.3534	.	522	Q9NQV7	PRDM9_HUMAN	V	522;316	ENSP00000296682:A522V	ENSP00000253473:A316V	A	+	2	0	PRDM9	23562519	0.000000	0.05858	0.000000	0.03702	0.304000	0.27724	-1.173000	0.03108	-1.217000	0.02604	-0.362000	0.07510	GCA		0.433	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		5	71	0	0	0	0.014758	0	5	71					T	23526762	C	T	23526762	3	4	409	1	0	0	0	0	1	0	0	0	12463	710	25	2	1603	2	PRDM9	5	23526762	Missense_Mutation	SNP	C	TCGA-FE-A235-01A-11D-A16O-08		23526762	157388498	7	8389											
STC2	8614	broad.mit.edu	37	chr5	172752921	172752921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaagtcatgcaaatcccatGtaagccccgaatctcacaag	6	12	2	0			TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chr5:172752921G>A	ENST00000265087.4	-	2	1553	c.244C>T	c.(244-246)Cat>Tat	p.H82Y	STC2_ENST00000520593.1_5'Flank	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	82					cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAAATCCCATGTAAGCCCCGA	0.468																																						ENST00000265087.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25						c.(244-246)Cat>Tat		stanniocalcin 2							252	273	266					5																	172752921		2203	4300	6503	SO:0001583	missense	8614				cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity	g.chr5:172752921G>A	AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.244C>T	5.37:g.172752921G>A	ENSP00000265087:p.His82Tyr						p.H82Y	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	1553	-	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	82						Missense_Mutation	SNP	ENST00000265087.4	37	c.244C>T	CCDS4388.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.86|18.86	3.712879|3.712879	0.68730|0.68730	.|.	.|.	ENSG00000113739|ENSG00000113739	ENST00000265087|ENST00000520648	.|.	.|.	.|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.049753|.	0.85682|.	D|.	0.000000|.	T|T	0.67202|0.67202	0.2868|0.2868	L|L	0.41573|0.41573	1.285|1.285	0.53688|0.53688	D|D	0.999976|0.999976	P|.	0.40398|.	0.716|.	B|.	0.42319|.	0.383|.	T|T	0.62534|0.62534	-0.6834|-0.6834	9|5	0.12430|.	T|.	0.62|.	-12.9523|-12.9523	19.2864|19.2864	0.94072|0.94072	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	82|.	O76061|.	STC2_HUMAN|.	Y|I	82|35	.|.	ENSP00000265087:H82Y|.	H|T	-|-	1|2	0|0	STC2|STC2	172685527|172685527	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.476000|9.476000	0.97823|0.97823	2.559000|2.559000	0.86315|0.86315	0.655000|0.655000	0.94253|0.94253	CAT|ACA		0.468	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252965.1	NM_003714		12	373	0	0	0	0.013537	0	12	373					A	172752921	G	A	172752921	3	1	409	1	0	0	0	0	1	0	0	0	15275	1377	48	2	676	2	STC2	5	172752921	Missense_Mutation	SNP	G	TCGA-FE-A235-01A-11D-A16O-08	149226159	172752921	8162339	8	8390											
SLC22A2	6582	broad.mit.edu	37	chr6	160664756	160664757	+	Frame_Shift_Del	DEL	AT	AT	-													agtagaagaaatccaggtagAtattgtcacctgcaaggccc							TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chr6:160664756_160664757delAT	ENST00000366953.3	-	7	1384_1385	c.1126_1127delAT	c.(1126-1128)atcfs	p.I376fs	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	376					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	ATCCAGGTAGATATTGTCACCT	0.535																																						ENST00000366953.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27						c.(1126-1128)cfs		solute carrier family 22 (organic cation transporter), member 2																																				SO:0001589	frameshift_variant	6582				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	g.chr6:160664756_160664757delAT	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"Solute carriers"	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.1126_1127delAT	6.37:g.160664758_160664759delAT	ENSP00000355920:p.Ile376fs					SLC22A2_ENST00000491092.1_5'UTR	p.I376fs	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	7	1384_1385	-		Breast(66;0.000776)|Ovarian(120;0.0303)	376					Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Frame_Shift_Del	DEL	ENST00000366953.3	37	c.1126_1127delAT	CCDS5276.1																																																																																				0.535	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058		41	56						41	56	---	---	---	---	-	160664757	AT	-	160664756	7	5	409	1	0	1	0	1	0	0	0	0	14450	333	12	0	560	0	SLC22A2	6	160664756	Frame_Shift_Del	DEL	AT	TCGA-FE-A235-01A-11D-A16O-08		160664756	10450311	9	8391											
PMS2	5395	broad.mit.edu	37	chr7	6018249	6018249	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcatcgataacaaaatcAaagccattctttctaaatat	2	8	4	0	rs1805325	byFrequency	TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chr7:6018249A>G	ENST00000265849.7	-	13	2358	c.2253T>C	c.(2251-2253)ttT>ttC	p.F751F	PMS2_ENST00000441476.2_Silent_p.F645F|PMS2_ENST00000382321.4_Silent_p.F350F|PMS2_ENST00000406569.3_Intron	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	751					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TAACAAAATCAAAGCCATTCT	0.393			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000265849.7			yes	Rec		"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	7	7p22	5395	"Mis, N, F"	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		"colorectal, endometrial, ovarian, medulloblastoma, glioma"			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2251-2253)ttT>ttC	Direct reversal of damage;Mismatch excision repair (MMR)	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)							108	86	93					7																	6018249		2198	4284	6482	SO:0001819	synonymous_variant	5395	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6018249A>G		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"postmeiotic segregation increased (S. cerevisiae) 2"	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.2253T>C	7.37:g.6018249A>G						PMS2_ENST00000382321.4_Silent_p.F350F|PMS2_ENST00000406569.3_Intron|PMS2_ENST00000441476.2_Silent_p.F645F	p.F751F	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	13	2358	-		Ovarian(82;0.0694)	751					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Silent	SNP	ENST00000265849.7	37	c.2253T>C	CCDS5343.1																																																																																				0.393	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		4	26	0	0	0	0.009096	0	4	26					G	6018249	A	G	6018249	2	3	409	1	0	0	0	0	0	0	0	1	12143	127	5	3		3	PMS2	7	6018249	Silent	SNP	A	TCGA-FE-A235-01A-11D-A16O-08		6018249	153120414	10	8392											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		31	59	0	0	0	0.010818	0	31	59					T	140453136	A	T	140453136	3	4	409	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FE-A235-01A-11D-A16O-08	134434887	140453136	18685527	11	8393											
IARS	3376	broad.mit.edu	37	chr9	95030578	95030578	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tttttctcgtaccaactctgGgaccctgcaataaacagatc	6	12	2	1			TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chr9:95030578G>C	ENST00000375643.3	-	14	1575	c.1309C>G	c.(1309-1311)Cca>Gca	p.P437A	IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.P437A|IARS_ENST00000447699.2_Missense_Mutation_p.P327A	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	437					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	ACCAACTCTGGGACCCTGCAA	0.418																																						ENST00000375643.3																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1309-1311)Cca>Gca		isoleucyl-tRNA synthetase	L-Isoleucine(DB00167)						135	131	133					9																	95030578		2203	4300	6503	SO:0001583	missense	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95030578G>C	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	5330	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 1, cytoplasmic"	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.1309C>G	9.37:g.95030578G>C	ENSP00000364794:p.Pro437Ala					IARS_ENST00000375629.3_5'UTR|IARS_ENST00000447699.2_Missense_Mutation_p.P327A|IARS_ENST00000443024.2_Missense_Mutation_p.P437A	p.P437A	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN			14	1575	-			437					A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	c.1309C>G	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876197	0.91664	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660	T;T;T	0.53857	0.6;0.6;0.6	5.96	5.96	0.96718	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	D	0.87688	0.6240	H	0.99942	5.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93266	0.6647	10	0.87932	D	0	-13.3093	20.0142	0.97474	0.0:0.0:1.0:0.0	.	437;282	P41252;Q6P0M4	SYIC_HUMAN;.	A	437;437;327;437	ENSP00000364794:P437A;ENSP00000406448:P437A;ENSP00000415020:P327A	ENSP00000364794:P437A	P	-	1	0	IARS	94070399	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	9.641000	0.98458	2.831000	0.97527	0.650000	0.86243	CCA		0.418	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		15	139	0	0	0	0.024245	0	15	139					C	95030578	G	C	95030578	3	2	409	1	0	0	0	0	1	0	0	0	7473	1232	43	4	2563	4	IARS	9	95030578	Missense_Mutation	SNP	G	TCGA-FE-A235-01A-11D-A16O-08		95030578	46182853	12	8394											
APOA4	337	broad.mit.edu	37	chr11	116693873	116693873	+	Frame_Shift_Del	DEL	A	A	-													actcaccggcgacagccaccAgggccagggtcaggaccacg							TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chr11:116693873delA	ENST00000357780.3	-	1	149	c.35delT	c.(34-36)ctgfs	p.L12fs		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	12					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GACAGCCACCAGGGCCAGGGT	0.592																																						ENST00000357780.3																			0				cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(34-36)cgfs		apolipoprotein A-IV							139	134	135					11																	116693873		2201	4292	6493	SO:0001589	frameshift_variant	337							g.chr11:116693873delA		CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"Apolipoproteins"	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.35delT	11.37:g.116693873delA	ENSP00000350425:p.Leu12fs						p.L12fs	NM_000482.3	NP_000473.2				BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	1	149	-	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)						A8MSL6|Q14CW8|Q6Q787	Frame_Shift_Del	DEL	ENST00000357780.3	37	c.35delT	CCDS31681.1																																																																																				0.592	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106279.2	NM_000482		107	140						107	140	---	---	---	---	-	116693873	A	-	116693873	7	5	409	1	0	1	0	1	0	0	0	0	783	188	7	0	1167	0	APOA4	11	116693873	Frame_Shift_Del	DEL	A	TCGA-FE-A235-01A-11D-A16O-08		116693873	18312643	13	8395											
CACNA1G	8913	broad.mit.edu	37	chr17	48680555	48680555	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgcggaccctgcgcccGctcaggtgactccctcccca	10	20	1	1	rs527581833		TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chr17:48680555G>A	ENST00000359106.5	+	21	4164	c.4164G>A	c.(4162-4164)ccG>ccA	p.P1388P	CACNA1G_ENST00000429973.2_Silent_p.P1388P|CACNA1G_ENST00000507336.1_Silent_p.P1388P|CACNA1G_ENST00000354983.4_Silent_p.P1365P|CACNA1G_ENST00000510115.1_Silent_p.P1365P|CACNA1G_ENST00000507896.1_Silent_p.P1388P|CACNA1G_ENST00000512389.1_Silent_p.P1388P|CACNA1G_ENST00000416767.4_Silent_p.P1388P|CACNA1G_ENST00000515411.1_Silent_p.P1388P|CACNA1G_ENST00000505165.1_Silent_p.P1388P|CACNA1G_ENST00000514717.1_Silent_p.P1365P|CACNA1G_ENST00000442258.2_Silent_p.P1365P|CACNA1G_ENST00000514079.1_Silent_p.P1388P|CACNA1G_ENST00000507510.2_Silent_p.P1388P|CACNA1G_ENST00000513964.1_Silent_p.P1388P|CACNA1G_ENST00000507609.1_Silent_p.P1388P|CACNA1G_ENST00000513689.2_Silent_p.P1388P|CACNA1G_ENST00000502264.1_Silent_p.P1365P|CACNA1G_ENST00000503485.1_Silent_p.P1388P|CACNA1G_ENST00000360761.4_Silent_p.P1365P|CACNA1G_ENST00000358244.5_Silent_p.P1365P|CACNA1G_ENST00000510366.1_Silent_p.P1388P|CACNA1G_ENST00000515765.1_Silent_p.P1388P|CACNA1G_ENST00000514181.1_Silent_p.P1388P|CACNA1G_ENST00000515165.1_Silent_p.P1388P|CACNA1G_ENST00000352832.5_Silent_p.P1365P	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1388					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCCTGCGCCCGCTCAGGTGAC	0.637													G|||	1	0.000199681	8e-04	0	5008	,	,		13777	0		0	False		,,,				2504	0					ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(4093-4095)ccG>ccA		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						49	53	52					17																	48680555		2134	4245	6379	SO:0001819	synonymous_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48680555G>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.4164G>A	17.37:g.48680555G>A						CACNA1G_ENST00000503485.1_Silent_p.P1388P|CACNA1G_ENST00000515765.1_Silent_p.P1388P|CACNA1G_ENST00000515165.1_Silent_p.P1388P|CACNA1G_ENST00000442258.2_Silent_p.P1365P|CACNA1G_ENST00000514717.1_Silent_p.P1365P|CACNA1G_ENST00000507609.1_Silent_p.P1388P|CACNA1G_ENST00000514181.1_Silent_p.P1388P|CACNA1G_ENST00000514079.1_Silent_p.P1388P|CACNA1G_ENST00000513964.1_Silent_p.P1388P|CACNA1G_ENST00000513689.2_Silent_p.P1388P|CACNA1G_ENST00000416767.4_Silent_p.P1388P|CACNA1G_ENST00000429973.2_Silent_p.P1388P|CACNA1G_ENST00000360761.4_Silent_p.P1365P|CACNA1G_ENST00000507896.1_Silent_p.P1388P|CACNA1G_ENST00000512389.1_Silent_p.P1388P|CACNA1G_ENST00000510366.1_Silent_p.P1388P|CACNA1G_ENST00000505165.1_Silent_p.P1388P|CACNA1G_ENST00000507510.2_Silent_p.P1388P|CACNA1G_ENST00000358244.5_Silent_p.P1365P|CACNA1G_ENST00000507336.1_Silent_p.P1388P|CACNA1G_ENST00000510115.1_Silent_p.P1365P|CACNA1G_ENST00000515411.1_Silent_p.P1388P|CACNA1G_ENST00000502264.1_Silent_p.P1365P|CACNA1G_ENST00000354983.4_Silent_p.P1365P|CACNA1G_ENST00000359106.5_Silent_p.P1388P	p.P1365P	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		20	4467	+	Breast(11;6.7e-17)		1388					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	c.4095G>A	CCDS45730.1																																																																																				0.637	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		10	17	0	0	0	0.008291	0	10	17					A	48680555	G	A	48680555	2	1	409	1	0	0	0	0	0	0	0	1	2544	1074	38	1		1	CACNA1G	17	48680555	Silent	SNP	G	TCGA-FE-A235-01A-11D-A16O-08		48680555	32514655	14	8396											
PLEKHA4	57664	broad.mit.edu	37	chr19	49351244	49351244	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtttctgggggccacccagAcctgccagcgtgtcttccac	12	15	2	1			TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chr19:49351244A>C	ENST00000263265.6	-	14	2034	c.1479T>G	c.(1477-1479)ggT>ggG	p.G493G	PLEKHA4_ENST00000355496.5_Silent_p.G468G	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	493						cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GGCCACCCAGACCTGCCAGCG	0.592																																						ENST00000263265.6																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30						c.(1477-1479)ggT>ggG		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4							32	33	33					19																	49351244		2203	4300	6503	SO:0001819	synonymous_variant	0					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49351244A>C	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"Pleckstrin homology (PH) domain containing"	14339	protein-coding gene	gene with protein product		607769	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.1479T>G	19.37:g.49351244A>C						PLEKHA4_ENST00000355496.5_Silent_p.G468G	p.G493G	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	14	2034	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)	493					Q8N4M8|Q8N658	Silent	SNP	ENST00000263265.6	37	c.1479T>G	CCDS12737.1																																																																																				0.592	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			4	23	0	0	0	0.014758	0	4	23					C	49351244	A	C	49351244	2	2	409	1	0	0	0	0	0	0	0	1	12058	262	10	5		5	PLEKHA4	19	49351244	Silent	SNP	A	TCGA-FE-A235-01A-11D-A16O-08		49351244	9777739	15	8397											
CGB1	114335	broad.mit.edu	37	chr19	49539494	49539494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcattgatggggcggcaccGtggccgaagcggctccttgg	18	11	0	1			TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chr19:49539494G>A	ENST00000301407.7	-	2	180	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	CGB1_ENST00000391869.3_Missense_Mutation_p.R26W|CTB-60B18.6_ENST00000591656.1_Intron	NM_033377.1	NP_203695.2	A6NKQ9	CGB1_HUMAN	chorionic gonadotropin, beta polypeptide 1	58						extracellular region (GO:0005576)				liver(1)|lung(1)	2		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GGGCGGCACCGTGGCCGAAGC	0.652																																						ENST00000301407.7																			0				liver(1)|lung(1)	2						c.(76-78)Cgg>Tgg		chorionic gonadotropin, beta polypeptide 1							32	33	32					19																	49539494		1466	2623	4089	SO:0001583	missense	114335					extracellular region	hormone activity	g.chr19:49539494G>A	S80935	CCDS12751.2	19q13.32	2012-10-03				ENSG00000267631			16721	protein-coding gene	gene with protein product		608823				6194155	Standard	NM_033377		Approved		uc002plx.3	A6NKQ9	OTTHUMG00000150186	ENST00000301407.7:c.76C>T	19.37:g.49539494G>A	ENSP00000301407:p.Arg26Trp					CTB-60B18.6_ENST00000591656.1_Intron|CGB1_ENST00000391869.3_Missense_Mutation_p.R26W	p.R26W	NM_033377.1	NP_203695.2	A6NKQ9	CGB1_HUMAN		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	2	180	-		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	58					A4FVC8|A8MUK6	Missense_Mutation	SNP	ENST00000301407.7	37	c.76C>T	CCDS12751.2	.	.	.	.	.	.	.	.	.	.	g	2.894	-0.229075	0.06022	.	.	ENSG00000213030	ENST00000301407;ENST00000391869	D;D	0.91011	-2.77;-2.77	1.79	0.712	0.18167	.	0.221865	0.29225	N	0.012762	T	0.81394	0.4813	.	.	.	0.20563	N	0.999882	B	0.23540	0.087	B	0.14023	0.01	T	0.68405	-0.5417	9	0.37606	T	0.19	-16.6805	6.2364	0.20766	0.1778:0.0:0.8222:0.0	.	26	A6NKQ9-2	.	W	26	ENSP00000301407:R26W;ENSP00000375742:R26W	ENSP00000301407:R26W	R	-	1	2	CGB1	54231306	0.452000	0.25713	0.893000	0.35052	0.080000	0.17528	1.194000	0.32174	0.309000	0.22966	0.184000	0.17185	CGG		0.652	CGB1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316746.4	NM_033377		6	89	0	0	0	0.00308	0	6	89					A	49539494	G	A	49539494	3	1	409	1	0	0	0	0	1	0	0	0	3297	1144	40	1	399	1	CGB1	19	49539494	Missense_Mutation	SNP	G	TCGA-FE-A235-01A-11D-A16O-08	188250	49539494	9589489	16	8398											
ANKRD5	63926	broad.mit.edu	37	chr20	10025188	10025188	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgctaaaggaggctttttCgatgtaataatctattcttt	8	6	2	0	rs368002362		TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chr20:10025188C>T	ENST00000378380.3	+	4	1022	c.693C>T	c.(691-693)ttC>ttT	p.F231F	SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000378392.1_Silent_p.F231F	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	231							calcium ion binding (GO:0005509)										GAGGCTTTTTCGATGTAATAA	0.358																																						ENST00000378380.3																			0											c.(691-693)ttC>ttT		ankyrin repeat and EF-hand domain containing 1		C	,	0,4406		0,0,2203	163	152	156		693,693	-0.5	1.0	20		156	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ANKRD5	NM_022096.4,NM_198798.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	231/777,231/777	10025188	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	63926							g.chr20:10025188C>T	AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"EF-hand domain containing", "Ankyrin repeat domain containing"	15803	protein-coding gene	gene with protein product			"ankyrin repeat domain 5"	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.693C>T	20.37:g.10025188C>T						SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Silent_p.F231F|SNAP25-AS1_ENST00000603542.1_RNA	p.F231F	NM_198798.1	NP_942093.1					4	1022	+								B3KUQ0|Q9H6Y9	Silent	SNP	ENST00000378380.3	37	c.693C>T	CCDS13108.1																																																																																				0.358	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096		4	101	0	0	0	0.014758	0	4	101					T	10025188	C	T	10025188	2	4	409	1	0	0	0	0	0	0	0	1	676	883	31	1		1	ANKRD5	20	10025188	Silent	SNP	C	TCGA-FE-A235-01A-11D-A16O-08		10025188	53000332	17	8399											
TRO	7216	broad.mit.edu	37	chrX	54954164	54954164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagttcttctggggcttgCgctcctaccacgagactagc	11	12	2	2			TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chrX:54954164C>T	ENST00000173898.7	+	11	1940	c.1828C>T	c.(1828-1830)Cgc>Tgc	p.R610C	TRO_ENST00000375022.4_Missense_Mutation_p.R610C|TRO_ENST00000319167.8_Missense_Mutation_p.R610C|TRO_ENST00000420798.2_Missense_Mutation_p.R141C|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000399736.1_Missense_Mutation_p.R213C|TRO_ENST00000375041.2_Missense_Mutation_p.R213C	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	610	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)		p.R610C(2)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CTGGGGCTTGCGCTCCTACCA	0.483																																						ENST00000173898.7																			2	Substitution - Missense(2)	p.R610C(2)	kidney(2)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(1828-1830)Cgc>Tgc		trophinin							60	58	59					X																	54954164		2199	4300	6499	SO:0001583	missense	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54954164C>T	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.1828C>T	X.37:g.54954164C>T	ENSP00000173898:p.Arg610Cys					TRO_ENST00000319167.8_Missense_Mutation_p.R610C|TRO_ENST00000420798.2_Missense_Mutation_p.R141C|TRO_ENST00000375022.4_Missense_Mutation_p.R610C|TRO_ENST00000399736.1_Missense_Mutation_p.R213C|TRO_ENST00000375041.2_Missense_Mutation_p.R213C	p.R610C	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN			11	1940	+			610			MAGE.		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	c.1828C>T	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.814959	0.32053	.	.	ENSG00000067445	ENST00000173898;ENST00000319167;ENST00000375022;ENST00000399736;ENST00000319179;ENST00000420798;ENST00000375041	T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93	3.1	2.2	0.27929	.	.	.	.	.	T	0.55816	0.1944	H	0.96301	3.8	0.50632	D	0.999886	B;D;D;B	0.89917	0.155;1.0;1.0;0.155	B;D;D;B	0.97110	0.015;1.0;0.999;0.015	T	0.54642	-0.8263	9	0.87932	D	0	.	2.9059	0.05721	0.2683:0.568:0.0:0.1637	.	213;213;610;610	B1AKE9;B1AKF1;Q96SX2;Q12816	.;.;.;TROP_HUMAN	C	610;610;610;213;213;141;213	ENSP00000173898:R610C;ENSP00000318278:R610C;ENSP00000364162:R610C;ENSP00000382641:R213C;ENSP00000405126:R141C;ENSP00000364181:R213C	ENSP00000173898:R610C	R	+	1	0	TRO	54970889	0.914000	0.31030	0.716000	0.30569	0.957000	0.61999	1.178000	0.31981	0.651000	0.30788	0.513000	0.50165	CGC		0.483	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		4	93	0	0	0	0.009096	0	4	93					T	54954164	C	T	54954164	3	4	409	1	0	0	0	0	1	0	0	0	16571	768	27	1	1866	1	TRO	23	54954164	Missense_Mutation	SNP	C	TCGA-FE-A235-01A-11D-A16O-08		54954164	100316396	18	8400											
DCAF12L2	340578	broad.mit.edu	37	chrX	125298907	125298907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttctgctggcgctggcgcGgatccaggaaggagacgtgg	18	9	1	1			TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chrX:125298907G>A	ENST00000360028.2	-	1	1027	c.1001C>T	c.(1000-1002)cCg>cTg	p.P334L	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.P334L			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	334										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						GCGCTGGCGCGGATCCAGGAA	0.617																																						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.(1000-1002)cCg>cTg		DDB1 and CUL4 associated factor 12-like 2							61	65	64					X																	125298907		2203	4300	6503	SO:0001583	missense	340578							g.chrX:125298907G>A	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.1001C>T	X.37:g.125298907G>A	ENSP00000353128:p.Pro334Leu					DCAF12L2_ENST00000360028.2_Missense_Mutation_p.P334L	p.P334L	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	1081	-			334					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.1001C>T	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262479	0.39995	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.58652	0.32;0.32	4.05	4.05	0.47172	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.468130	0.16069	N	0.231104	T	0.37128	0.0992	N	0.13299	0.325	0.58432	D	0.999997	B	0.06786	0.001	B	0.04013	0.001	T	0.14476	-1.0471	10	0.09338	T	0.73	.	13.1427	0.59444	0.0:0.0:1.0:0.0	.	334	Q5VW00	DC122_HUMAN	L	334	ENSP00000441489:P334L;ENSP00000353128:P334L	ENSP00000353128:P334L	P	-	2	0	DCAF12L2	125126588	1.000000	0.71417	0.912000	0.35992	0.809000	0.45718	3.533000	0.53561	2.263000	0.75096	0.544000	0.68410	CCG		0.617	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		49	81	0	0	0	0.01441	0	49	81					A	125298907	G	A	125298907	3	1	409	1	0	0	0	0	1	0	0	0	4265	1116	39	1	394	1	DCAF12L2	23	125298907	Missense_Mutation	SNP	G	TCGA-FE-A235-01A-11D-A16O-08	70344743	125298907	29971653	19	8401											
PHF6	84295	broad.mit.edu	37	chrX	133527567	133527567	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attgtcctggagcaacaattGgttgtgatgtgaaaacatgt	11	5	0	2			TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chrX:133527567G>T	ENST00000332070.3	+	4	479	c.277G>T	c.(277-279)Ggt>Tgt	p.G93C	PHF6_ENST00000370803.3_Missense_Mutation_p.G93C|PHF6_ENST00000394292.1_Missense_Mutation_p.G93C|PHF6_ENST00000370800.4_Missense_Mutation_p.G93C|PHF6_ENST00000370799.1_Missense_Mutation_p.G93C|PHF6_ENST00000416404.2_Missense_Mutation_p.G59C	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	93	Extended PHD1 domain (ePHD1).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|scaffold protein binding (GO:0097110)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					AGCAACAATTGGTTGTGATGT	0.368			"F, N, Splice, Mis"		ETP ALL																																Colon(100;666 1493 6344 21231 35807)	ENST00000332070.3				Rec	yes		X	Xq26.3	84295	"F, N, Splice, Mis"	PHD finger protein 6			L			ETP ALL		0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103						c.(277-279)Ggt>Tgt		PHD finger protein 6							195	168	177					X																	133527567		2203	4300	6503	SO:0001583	missense	84295				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding	g.chrX:133527567G>T	AB058726	CCDS14639.1, CCDS14640.1	Xq26	2014-09-17			ENSG00000156531	ENSG00000156531		"Zinc fingers, PHD-type"	18145	protein-coding gene	gene with protein product	"centromere protein 31"	300414	"Borjeson-Forssman-Lehmann syndrome"	BFLS, BORJ		12415272, 15466013	Standard	NM_032335		Approved	KIAA1823, MGC14797, CENP-31	uc004exk.3	Q8IWS0	OTTHUMG00000022453	ENST00000332070.3:c.277G>T	X.37:g.133527567G>T	ENSP00000329097:p.Gly93Cys					PHF6_ENST00000370799.1_Missense_Mutation_p.G93C|PHF6_ENST00000416404.2_Missense_Mutation_p.G59C|PHF6_ENST00000370803.3_Missense_Mutation_p.G93C|PHF6_ENST00000370800.4_Missense_Mutation_p.G93C|PHF6_ENST00000394292.1_Missense_Mutation_p.G93C	p.G93C	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN			4	479	+	Acute lymphoblastic leukemia(192;0.000127)		93					A8K230|B4E0G4|D3DTG3|E9PC97|Q5JRC7|Q5JRC8|Q96JK3|Q9BRU0	Missense_Mutation	SNP	ENST00000332070.3	37	c.277G>T	CCDS14639.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.508321	0.85282	.	.	ENSG00000156531	ENST00000370803;ENST00000332070;ENST00000394292;ENST00000370799;ENST00000416404;ENST00000370800	T;T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59;-0.59	5.15	5.15	0.70609	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.86251	0.5888	M	0.86953	2.85	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.87578	0.983;0.998;0.989;0.989;0.939	D	0.88926	0.3369	10	0.87932	D	0	-13.8317	16.9007	0.86113	0.0:0.0:1.0:0.0	.	59;93;93;93;93	B4E0G4;A8K230;Q8IWS0;E9PC97;Q8IWS0-2	.;.;PHF6_HUMAN;.;.	C	93;93;93;93;59;93	ENSP00000359839:G93C;ENSP00000329097:G93C;ENSP00000377831:G93C;ENSP00000359835:G93C;ENSP00000394480:G59C;ENSP00000359836:G93C	ENSP00000329097:G93C	G	+	1	0	PHF6	133355233	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.420000	0.97426	2.284000	0.76573	0.523000	0.50628	GGT		0.368	PHF6-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058367.1	NM_032458		15	167	1	0	6.72482e-11	0.024245	1.15945e-10	15	167					T	133527567	G	T	133527567	3	4	409	1	0	0	0	0	1	0	0	0	11838	1348	47	4	287	4	PHF6	23	133527567	Missense_Mutation	SNP	G	TCGA-FE-A235-01A-11D-A16O-08	8228660	133527567	21742993	20	8402											
CIAO1	55654	broad.mit.edu	37	chr2	96933105	96933105	+	5'Flank	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttctgaaggccaccagcgCaccgtgcggaaggtagcctg	13	13	1	1			TCGA-FE-A236-01A-11D-A16O-08	TCGA-FE-A236-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556023eb-97ef-4dc6-a350-6843eb65b72b	7c4727fb-54fb-4006-9438-8a1564f72634	g.chr2:96933105C>T	ENST00000258439.3	-	0	0				TMEM127_ENST00000432959.1_5'Flank|CIAO1_ENST00000488633.1_Silent_p.R62R|CIAO1_ENST00000469320.1_3'UTR	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127						negative regulation of cell proliferation (GO:0008285)|negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						GCCACCAGCGCACCGTGCGGA	0.577																																						ENST00000488633.1																			0				endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	5						c.(184-186)cgC>cgT		cytosolic iron-sulfur protein assembly 1							124	119	121					2																	96933105		2203	4300	6503	SO:0001631	upstream_gene_variant	9391				chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding	g.chr2:96933105C>T	AK000514	CCDS2018.1	2q11.2	2014-09-17			ENSG00000135956	ENSG00000135956			26038	protein-coding gene	gene with protein product		613403				10493829	Standard	NM_017849		Approved	FLJ20507, FLJ22257	uc002svr.3	O75204	OTTHUMG00000130454		2.37:g.96933105C>T	Exception_encountered					CIAO1_ENST00000469320.1_3'UTR	p.R62R	NM_004804.2	NP_004795.1	O76071	CIAO1_HUMAN			2	405	+			62					D3DXH0	Silent	SNP	ENST00000258439.3	37	c.186C>T	CCDS2018.1																																																																																				0.577	TMEM127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252845.3	NM_017849		58	112	0	0	0	1	0	58	112					T	96933105	C	T	96933105	1	4	410	0	1	0	0	0	0	0	0	0	3418	697	25	2		2	CIAO1	2	96933105	5'Flank	SNP	C	TCGA-FE-A236-01A-11D-A16O-08		96933105	146266268	1	8403											
CHN1	1123	broad.mit.edu	37	chr2	175673728	175673728	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaccagtgataatgttgAtatcttcatacatgttcaca	7	8	3	2	rs371299944		TCGA-FE-A236-01A-11D-A16O-08	TCGA-FE-A236-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556023eb-97ef-4dc6-a350-6843eb65b72b	7c4727fb-54fb-4006-9438-8a1564f72634	g.chr2:175673728A>G	ENST00000409900.3	-	11	1320	c.1007T>C	c.(1006-1008)aTc>aCc	p.I336T	CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000295497.7_Missense_Mutation_p.I211T|CHN1_ENST00000409156.3_Missense_Mutation_p.I310T|CHN1_ENST00000409597.1_Missense_Mutation_p.I152T	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	336	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			GATAATGTTGATATCTTCATA	0.348			T	TAF15	extraskeletal myxoid chondrosarcoma																																	ENST00000409900.3				Dom	yes		2	2q31-q32.1	1123	T	chimerin (chimaerin) 1			M	TAF15		extraskeletal myxoid chondrosarcoma		0				NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(1006-1008)aTc>aCc		chimerin 1		A	THR/ILE,THR/ILE,THR/ILE	0,3754		0,0,1877	188	182	184		929,632,1007	4.8	1.0	2		184	1,8219		0,1,4109	no	missense,missense,missense	CHN1	NM_001025201.3,NM_001206602.1,NM_001822.5	89,89,89	0,1,5986	GG,GA,AA		0.0122,0.0,0.0084	possibly-damaging,possibly-damaging,possibly-damaging	310/434,211/335,336/460	175673728	1,11973	1877	4110	5987	SO:0001583	missense	1123				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr2:175673728A>G		CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"Rho GTPase activating proteins", "SH2 domain containing"	1943	protein-coding gene	gene with protein product	"Chimerin 1 (GTPase-activating protein, rho, 2)", "chimaerin 1"	118423	"Duane retraction syndrome 2", "chimerin (chimaerin) 1"	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.1007T>C	2.37:g.175673728A>G	ENSP00000386741:p.Ile336Thr					CHN1_ENST00000409597.1_Missense_Mutation_p.I152T|CHN1_ENST00000409156.3_Missense_Mutation_p.I310T|CHN1_ENST00000295497.7_Missense_Mutation_p.I211T|CHN1_ENST00000488080.1_5'UTR	p.I336T	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.226)		11	1320	-			336			Rho-GAP.		A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Missense_Mutation	SNP	ENST00000409900.3	37	c.1007T>C	CCDS46455.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.295101	0.81025	0.0	1.22E-4	ENSG00000128656	ENST00000409900;ENST00000295497;ENST00000409597;ENST00000409156;ENST00000409089;ENST00000444394;ENST00000413882;ENST00000443238	T;T;T;T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66;2.66;2.66;2.66	4.85	4.85	0.62838	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.045900	0.85682	D	0.000000	T	0.34048	0.0884	M	0.84326	2.69	0.80722	D	1	P;P;P	0.46578	0.734;0.734;0.88	P;P;P	0.54312	0.628;0.748;0.591	T	0.19582	-1.0301	10	0.66056	D	0.02	.	13.8996	0.63794	1.0:0.0:0.0:0.0	.	310;336;211	B4DV19;P15882;P15882-2	.;CHIN_HUMAN;.	T	336;211;152;310;128;111;154;162	ENSP00000386741:I336T;ENSP00000295497:I211T;ENSP00000386469:I152T;ENSP00000386470:I310T;ENSP00000386322:I128T;ENSP00000411911:I111T;ENSP00000410496:I154T;ENSP00000409798:I162T	ENSP00000295497:I211T	I	-	2	0	CHN1	175381974	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.287000	0.95975	1.942000	0.56320	0.374000	0.22700	ATC		0.348	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334453.1	NM_001822		21	117	0	0	0	1	0	21	117					G	175673728	A	G	175673728	3	3	410	1	0	0	0	0	1	0	0	0	3362	333	12	3	384	3	CHN1	2	175673728	Missense_Mutation	SNP	A	TCGA-FE-A236-01A-11D-A16O-08	78740623	175673728	67525645	2	8404											
ZBBX	79740	broad.mit.edu	37	chr3	167051707	167051707	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attctcctctttgggttcatCtggattaacatcctttataa	5	9	4	0			TCGA-FE-A236-01A-11D-A16O-08	TCGA-FE-A236-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556023eb-97ef-4dc6-a350-6843eb65b72b	7c4727fb-54fb-4006-9438-8a1564f72634	g.chr3:167051707C>T	ENST00000392766.2	-	10	935	c.595G>A	c.(595-597)Gat>Aat	p.D199N	ZBBX_ENST00000392767.2_Missense_Mutation_p.D199N|ZBBX_ENST00000455345.2_Missense_Mutation_p.D199N|ZBBX_ENST00000392764.1_Missense_Mutation_p.D170N|ZBBX_ENST00000307529.5_Missense_Mutation_p.D199N|ZBBX_ENST00000469220.1_Intron	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	199						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTGGGTTCATCTGGATTAACA	0.338																																						ENST00000392766.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(595-597)Gat>Aat		zinc finger, B-box domain containing							127	113	118					3																	167051707		1804	4072	5876	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:167051707C>T	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.595G>A	3.37:g.167051707C>T	ENSP00000376519:p.Asp199Asn					ZBBX_ENST00000307529.5_Missense_Mutation_p.D199N|ZBBX_ENST00000455345.2_Missense_Mutation_p.D199N|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392764.1_Missense_Mutation_p.D170N|ZBBX_ENST00000392767.2_Missense_Mutation_p.D199N	p.D199N	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN			10	935	-			199					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.595G>A	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	C	11.60	1.685647	0.29962	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.11277	2.96;2.96;2.96;2.96;2.79	4.66	3.77	0.43336	.	.	.	.	.	T	0.13500	0.0327	L	0.47716	1.5	0.23076	N	0.998331	P;P	0.44429	0.835;0.745	P;B	0.44477	0.451;0.247	T	0.08889	-1.0700	9	0.39692	T	0.17	-2.2164	10.9347	0.47239	0.0:0.793:0.207:0.0	.	199;199	A8MT70-2;A8MT70	.;ZBBX_HUMAN	N	199;199;199;199;170	ENSP00000376519:D199N;ENSP00000376520:D199N;ENSP00000390232:D199N;ENSP00000305065:D199N;ENSP00000376517:D170N	ENSP00000305065:D199N	D	-	1	0	ZBBX	168534401	0.997000	0.39634	0.973000	0.42090	0.187000	0.23431	1.131000	0.31406	1.040000	0.40099	0.650000	0.86243	GAT		0.338	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		26	31	0	0	0	1	0	26	31					T	167051707	C	T	167051707	3	4	410	1	0	0	0	0	1	0	0	0	17513	913	32	2	1855	2	ZBBX	3	167051707	Missense_Mutation	SNP	C	TCGA-FE-A236-01A-11D-A16O-08		167051707	30970723	3	8405											
BRIX1	55299	broad.mit.edu	37	chr5	34923115	34923115	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tatttttataggcttttgatGaattaccacattatgctttg	6	5	0	2			TCGA-FE-A236-01A-11D-A16O-08	TCGA-FE-A236-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556023eb-97ef-4dc6-a350-6843eb65b72b	7c4727fb-54fb-4006-9438-8a1564f72634	g.chr5:34923115G>A	ENST00000336767.5	+	7	883	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K	BRIX1_ENST00000506023.1_3'UTR	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN	BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)	174	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				ribosome biogenesis (GO:0042254)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|large_intestine(2)|lung(1)	4						GGCTTTTGATGAATTACCACA	0.279																																						ENST00000336767.5																			0				central_nervous_system(1)|large_intestine(2)|lung(1)	4						c.(520-522)Gaa>Aaa		BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)							127	139	135					5																	34923115		2199	4298	6497	SO:0001583	missense	55299				ribosome biogenesis|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|protein binding	g.chr5:34923115G>A		CCDS34143.1	5p13.2	2009-09-25	2009-09-25	2009-09-25	ENSG00000113460	ENSG00000113460			24170	protein-coding gene	gene with protein product			"brix domain containing 2"	BXDC2		12477932	Standard	NM_018321		Approved	BRIX, FLJ11100	uc003jja.3	Q8TDN6	OTTHUMG00000162021	ENST00000336767.5:c.520G>A	5.37:g.34923115G>A	ENSP00000338862:p.Glu174Lys					BRIX1_ENST00000506023.1_3'UTR	p.E174K	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN			7	883	+			174			Brix.		A8K0P5|Q3ZTT4|Q8N453|Q96DH1	Missense_Mutation	SNP	ENST00000336767.5	37	c.520G>A	CCDS34143.1	.	.	.	.	.	.	.	.	.	.	G	8.513	0.867052	0.17250	.	.	ENSG00000113460	ENST00000336767	T	0.22336	1.96	5.65	4.75	0.60458	Brix domain (3);Anticodon-binding (1);	0.536759	0.21346	N	0.076059	T	0.08714	0.0216	N	0.04132	-0.27	0.29276	N	0.870379	B	0.02656	0.0	B	0.06405	0.002	T	0.17561	-1.0365	10	0.08179	T	0.78	-23.3206	11.2312	0.48914	0.0:0.2344:0.6401:0.1255	.	174	Q8TDN6	BRX1_HUMAN	K	174	ENSP00000338862:E174K	ENSP00000338862:E174K	E	+	1	0	BRIX1	34958872	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	1.559000	0.36320	2.941000	0.99782	0.655000	0.94253	GAA		0.279	BRIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366826.2	NM_018321		44	85	0	0	0	1	0	44	85					A	34923115	G	A	34923115	3	1	410	1	0	0	0	0	1	0	0	0	1515	1291	45	2	546	2	BRIX1	5	34923115	Missense_Mutation	SNP	G	TCGA-FE-A236-01A-11D-A16O-08		34923115	145992145	4	8406											
RBM16	22828	broad.mit.edu	37	chr6	155145452	155145452	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggttcctcctcctggattcAgtccaatccctccacctcct	5	19	1	0			TCGA-FE-A236-01A-11D-A16O-08	TCGA-FE-A236-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556023eb-97ef-4dc6-a350-6843eb65b72b	7c4727fb-54fb-4006-9438-8a1564f72634	g.chr6:155145452A>G	ENST00000367178.3	+	17	2587	c.2011A>G	c.(2011-2013)Agt>Ggt	p.S671G	SCAF8_ENST00000417268.1_Missense_Mutation_p.S671G|RNU6-824P_ENST00000363724.1_RNA|SCAF8_ENST00000367186.4_Missense_Mutation_p.S737G	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	671	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						TCCTGGATTCAGTCCAATCCC	0.443																																						ENST00000367178.3																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						c.(2011-2013)Agt>Ggt		SR-related CTD-associated factor 8							190	187	188					6																	155145452		2203	4300	6503	SO:0001583	missense	22828				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	g.chr6:155145452A>G	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"RNA binding motif (RRM) containing"	20959	protein-coding gene	gene with protein product			"RNA binding motif protein 16"	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.2011A>G	6.37:g.155145452A>G	ENSP00000356146:p.Ser671Gly					SCAF8_ENST00000417268.1_Missense_Mutation_p.S671G|SCAF8_ENST00000367186.4_Missense_Mutation_p.S737G	p.S671G	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN			17	2587	+			671			Pro-rich.		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	ENST00000367178.3	37	c.2011A>G	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	A	14.23	2.472317	0.43942	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	T;T;T	0.42513	0.99;0.99;0.97	5.27	4.09	0.47781	.	0.320592	0.29676	U	0.011495	T	0.08935	0.0221	N	0.11560	0.145	0.28442	N	0.916767	B;B;P;B	0.42692	0.0;0.055;0.787;0.028	B;B;B;B	0.40534	0.002;0.031;0.332;0.017	T	0.05273	-1.0895	10	0.19147	T	0.46	.	6.5515	0.22436	0.7892:0.0:0.0748:0.1361	.	716;737;749;671	B7Z876;B7Z888;B7Z3A4;Q9UPN6	.;.;.;SCAF8_HUMAN	G	671;671;737	ENSP00000356146:S671G;ENSP00000413098:S671G;ENSP00000356154:S737G	ENSP00000356146:S671G	S	+	1	0	SCAF8	155187144	1.000000	0.71417	0.992000	0.48379	0.845000	0.48019	3.127000	0.50484	1.986000	0.57962	0.528000	0.53228	AGT		0.443	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		67	88	0	0	0	1	0	67	88					G	155145452	A	G	155145452	3	3	410	1	0	0	0	0	1	0	0	0	13118	188	7	3	2077	3	RBM16	6	155145452	Missense_Mutation	SNP	A	TCGA-FE-A236-01A-11D-A16O-08		155145452	15969615	5	8407											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FE-A236-01A-11D-A16O-08	TCGA-FE-A236-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556023eb-97ef-4dc6-a350-6843eb65b72b	7c4727fb-54fb-4006-9438-8a1564f72634	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		38	46	0	0	0	1	0	38	46					T	140453136	A	T	140453136	3	4	410	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FE-A236-01A-11D-A16O-08		140453136	18685527	6	8408											
KCNK18	338567	broad.mit.edu	37	chr10	118960781	118960781	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgctctttttctgctgcaCggtgttcagcaccgtgggta	11	12	3	0	rs199813258		TCGA-FE-A236-01A-11D-A16O-08	TCGA-FE-A236-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556023eb-97ef-4dc6-a350-6843eb65b72b	7c4727fb-54fb-4006-9438-8a1564f72634	g.chr10:118960781C>T	ENST00000334549.1	+	2	335	c.335C>T	c.(334-336)aCg>aTg	p.T112M		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	112					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		TTCTGCTGCACGGTGTTCAGC	0.562													C|||	1	0.000199681	0	0	5008	,	,		19208	0.001		0	False		,,,				2504	0					ENST00000334549.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41						c.(334-336)aCg>aTg		potassium channel, subfamily K, member 18							133	105	115					10																	118960781		2203	4300	6503	SO:0001583	missense	338567					integral to membrane|plasma membrane		g.chr10:118960781C>T	AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	19439	protein-coding gene	gene with protein product	"TWIK related spinal cord K+ channel"	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.335C>T	10.37:g.118960781C>T	ENSP00000334650:p.Thr112Met						p.T112M	NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN		all cancers(201;0.0211)	2	335	+		Colorectal(252;0.19)	112					Q5SQQ8	Missense_Mutation	SNP	ENST00000334549.1	37	c.335C>T	CCDS7598.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	18.08	3.543225	0.65198	.	.	ENSG00000186795	ENST00000334549	T	0.34072	1.38	4.27	4.27	0.50696	Ion transport 2 (1);	0.051872	0.85682	D	0.000000	T	0.61464	0.2349	M	0.83852	2.665	0.80722	D	1	D	0.89917	1.0	D	0.63597	0.916	T	0.68511	-0.5389	10	0.72032	D	0.01	.	16.9723	0.86303	0.0:1.0:0.0:0.0	.	112	Q7Z418	KCNKI_HUMAN	M	112	ENSP00000334650:T112M	ENSP00000334650:T112M	T	+	2	0	KCNK18	118950771	1.000000	0.71417	0.954000	0.39281	0.918000	0.54935	5.866000	0.69590	2.656000	0.90262	0.655000	0.94253	ACG		0.562	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840		31	61	0	0	0	1	0	31	61					T	118960781	C	T	118960781	3	4	410	1	0	0	0	0	1	0	0	0	8065	536	19	1	341	1	KCNK18	10	118960781	Missense_Mutation	SNP	C	TCGA-FE-A236-01A-11D-A16O-08		118960781	16573966	7	8409											
EXT2	2132	broad.mit.edu	37	chr11	44193165	44193165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attattttctttataggcccGgtggttctgggaagcgtact	11	7	2	0	rs138187791	byFrequency	TCGA-FE-A236-01A-11D-A16O-08	TCGA-FE-A236-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556023eb-97ef-4dc6-a350-6843eb65b72b	7c4727fb-54fb-4006-9438-8a1564f72634	g.chr11:44193165G>A	ENST00000343631.3	+	8	1307	c.1178G>A	c.(1177-1179)cGg>cAg	p.R393Q	EXT2_ENST00000358681.4_Intron|EXT2_ENST00000395673.3_Missense_Mutation_p.R426Q|EXT2_ENST00000533608.1_Missense_Mutation_p.R393Q			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	393					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TTATAGGCCCGGTGGTTCTGG	0.448			"Mis, N, F, S"			"exostoses, osteosarcoma"			Hereditary Multiple Exostoses				G|||	5	0.000998403	0	0.0043	5008	,	,		19524	0		0.001	False		,,,				2504	0.001					ENST00000395673.3			yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	"Mis, N, F, S"	multiple exostoses type 2 gene			M		"exostoses, osteosarcoma"			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(1276-1278)cGg>cAg		exostosin glycosyltransferase 2		G	GLN/ARG,,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	111	110	110		1277,,1178	5.5	1.0	11	dbSNP_134	110	15,8583	11.2+/-40.8	0,15,4284	yes	missense,intron,missense	EXT2	NM_000401.3,NM_001178083.1,NM_207122.1	43,,43	0,16,6486	AA,AG,GG		0.1745,0.0227,0.123	possibly-damaging,,possibly-damaging	426/752,,393/719	44193165	16,12988	2203	4299	6502	SO:0001583	missense	2132	Hereditary Multiple Exostoses	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	g.chr11:44193165G>A		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"Exostosin glycosyltransferase family"	3513	protein-coding gene	gene with protein product	"Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"	608210	"exostoses (multiple) 2", "exostosin 2"			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.1178G>A	11.37:g.44193165G>A	ENSP00000342656:p.Arg393Gln					EXT2_ENST00000358681.4_Intron|EXT2_ENST00000343631.3_Missense_Mutation_p.R393Q|EXT2_ENST00000533608.1_Missense_Mutation_p.R393Q	p.R426Q	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN			8	1333	+			393					B2R5Z6|C9JU51|J3KPT2|O15288	Missense_Mutation	SNP	ENST00000343631.3	37	c.1277G>A	CCDS7908.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	G	9.447	1.089604	0.20390	2.27E-4	0.001745	ENSG00000151348	ENST00000533608;ENST00000395673;ENST00000343631	D;D;D	0.95103	-3.6;-3.61;-3.6	5.5	5.5	0.81552	.	.	.	.	.	D	0.84179	0.5415	N	0.12637	0.245	0.58432	D	0.999992	B;B;B	0.19445	0.036;0.009;0.033	B;B;B	0.11329	0.006;0.002;0.002	T	0.82631	-0.0362	9	0.06625	T	0.88	2.391	19.405	0.94644	0.0:0.0:1.0:0.0	.	393;393;406	Q6NUL1;Q93063;D3DR24	.;EXT2_HUMAN;.	Q	393;426;393	ENSP00000431173:R393Q;ENSP00000379032:R426Q;ENSP00000342656:R393Q	ENSP00000342656:R393Q	R	+	2	0	EXT2	44149741	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.760000	0.62235	2.579000	0.87056	0.655000	0.94253	CGG		0.448	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401		6	110	0	0	0	1	0	6	110					A	44193165	G	A	44193165	3	1	410	1	0	0	0	0	1	0	0	0	5324	1116	39	1	1404	1	EXT2	11	44193165	Missense_Mutation	SNP	G	TCGA-FE-A236-01A-11D-A16O-08		44193165	90813351	8	8410											
TMEM100	55273	broad.mit.edu	37	chr17	53798052	53798052	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaacaagcttctctgatttGccacgagagctgtttgactc	8	11	1	3			TCGA-FE-A236-01A-11D-A16O-08	TCGA-FE-A236-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556023eb-97ef-4dc6-a350-6843eb65b72b	7c4727fb-54fb-4006-9438-8a1564f72634	g.chr17:53798052G>T	ENST00000575734.1	-	4	1188	c.380C>A	c.(379-381)gCa>gAa	p.A127E	TMEM100_ENST00000570586.1_5'Flank|TMEM100_ENST00000424486.2_Missense_Mutation_p.A127E	NM_001099640.1	NP_001093110.1	Q9NV29	TM100_HUMAN	transmembrane protein 100	127					angiogenesis (GO:0001525)|arterial endothelial cell differentiation (GO:0060842)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of vasculogenesis (GO:2001214)|protein kinase B signaling (GO:0043491)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						TCTCTGATTTGCCACGAGAGC	0.483																																						ENST00000575734.1																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						c.(379-381)gCa>gAa		transmembrane protein 100							108	104	106					17																	53798052		2203	4300	6503	SO:0001583	missense	55273					integral to membrane		g.chr17:53798052G>T	AK001832	CCDS11587.1	17q23.1	2005-12-16				ENSG00000166292			25607	protein-coding gene	gene with protein product							Standard	NM_018286		Approved	FLJ10970, FLJ37856	uc002iuj.4	Q9NV29		ENST00000575734.1:c.380C>A	17.37:g.53798052G>T	ENSP00000465638:p.Ala127Glu					TMEM100_ENST00000424486.2_Missense_Mutation_p.A127E	p.A127E	NM_001099640.1	NP_001093110.1	Q9NV29	TM100_HUMAN			4	1188	-			127					D3DTY7|I3L214|Q96FZ0	Missense_Mutation	SNP	ENST00000575734.1	37	c.380C>A	CCDS11587.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.579653	0.46006	.	.	ENSG00000166292	ENST00000299377;ENST00000424486	.	.	.	5.53	-3.73	0.04398	.	0.447215	0.26688	N	0.023005	T	0.34221	0.0890	L	0.42245	1.32	0.28618	N	0.908332	P	0.46512	0.879	P	0.45829	0.494	T	0.43180	-0.9407	9	0.42905	T	0.14	-13.6276	11.8928	0.52638	0.5538:0.0:0.4462:0.0	.	127	Q9NV29	TM100_HUMAN	E	127	.	ENSP00000299377:A127E	A	-	2	0	TMEM100	51153051	0.582000	0.26749	0.036000	0.18154	0.689000	0.40095	0.891000	0.28309	-0.412000	0.07519	0.655000	0.94253	GCA		0.483	TMEM100-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439266.2	NM_018286		20	101	1	0	1.96292e-10	1	2.22465e-10	20	101					T	53798052	G	T	53798052	3	4	410	1	0	0	0	0	1	0	0	0	16012	1319	46	4	28	4	TMEM100	17	53798052	Missense_Mutation	SNP	G	TCGA-FE-A236-01A-11D-A16O-08		53798052	27397158	9	8411											
PEG3	5178	broad.mit.edu	37	chr19	57328594	57328594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgggacagcctttttgatCgtgaatcgagcccttcccat	9	13	0	2	rs553693488		TCGA-FE-A236-01A-11D-A16O-08	TCGA-FE-A236-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556023eb-97ef-4dc6-a350-6843eb65b72b	7c4727fb-54fb-4006-9438-8a1564f72634	g.chr19:57328594C>T	ENST00000326441.9	-	10	1579	c.1216G>A	c.(1216-1218)Gat>Aat	p.D406N	PEG3_ENST00000423103.2_Missense_Mutation_p.D406N|PEG3_ENST00000598410.1_Missense_Mutation_p.D282N|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.D280N|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	406					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCTTTTTGATCGTGAATCGAG	0.488																																						ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(1216-1218)Gat>Aat		paternally expressed 3							127	130	129					19																	57328594		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328594C>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1216G>A	19.37:g.57328594C>T	ENSP00000326581:p.Asp406Asn					ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.D280N|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.D282N|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.D406N	p.D406N	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	1579	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	406					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.1216G>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	6.959	0.546785	0.13312	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.02552	4.25;4.25	4.25	0.732	0.18283	.	0.594235	0.15182	N	0.276026	T	0.01730	0.0055	N	0.14661	0.345	.	.	.	B;B;B	0.18610	0.013;0.013;0.029	B;B;B	0.11329	0.003;0.003;0.006	T	0.34875	-0.9811	9	0.56958	D	0.05	-15.526	3.3059	0.07000	0.1657:0.4176:0.3231:0.0936	.	282;406;341	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	N	406;406;376	ENSP00000326581:D406N;ENSP00000403051:D406N	ENSP00000292074:D376N	D	-	1	0	ZIM2	62020406	0.000000	0.05858	0.002000	0.10522	0.195000	0.23768	-0.197000	0.09518	0.276000	0.22118	0.591000	0.81541	GAT		0.488	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			8	140	0	0	0	1	0	8	140					T	57328594	C	T	57328594	3	4	410	1	0	0	0	0	1	0	0	0	11720	884	31	1	3554	1	PEG3	19	57328594	Missense_Mutation	SNP	C	TCGA-FE-A236-01A-11D-A16O-08		57328594	1800389	10	8412											
CHGB	1114	broad.mit.edu	37	chr20	5903597	5903597	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgaggaaggtgaggaagaTgccacctctgaggtggacaa	15	7	2	4			TCGA-FE-A236-01A-11D-A16O-08	TCGA-FE-A236-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556023eb-97ef-4dc6-a350-6843eb65b72b	7c4727fb-54fb-4006-9438-8a1564f72634	g.chr20:5903597T>C	ENST00000378961.4	+	4	1011	c.807T>C	c.(805-807)gaT>gaC	p.D269D		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	269						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GTGAGGAAGATGCCACCTCTG	0.612																																						ENST00000378961.4																			0				breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						c.(805-807)gaT>gaC		chromogranin B (secretogranin 1)							43	47	45					20																	5903597		2201	4299	6500	SO:0001819	synonymous_variant	1114					extracellular region	hormone activity	g.chr20:5903597T>C		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"secretogranin B"	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.807T>C	20.37:g.5903597T>C							p.D269D	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN			4	1011	+			269					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Silent	SNP	ENST00000378961.4	37	c.807T>C	CCDS13092.1																																																																																				0.612	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		8	18	0	0	0	1	0	8	18					C	5903597	T	C	5903597	2	2	410	1	0	0	0	0	0	0	0	1	3339	1461	51	3		3	CHGB	20	5903597	Silent	SNP	T	TCGA-FE-A236-01A-11D-A16O-08		5903597	57121923	11	8413											
CARD10	29775	broad.mit.edu	37	chr22	37900249	37900250	+	Frame_Shift_Del	DEL	GG	GG	-													cggaggatggagccggcactGggggggaagggcaggatgga							TCGA-FE-A236-01A-11D-A16O-08	TCGA-FE-A236-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556023eb-97ef-4dc6-a350-6843eb65b72b	7c4727fb-54fb-4006-9438-8a1564f72634	g.chr22:37900249_37900250delGG	ENST00000403299.1	-	10	1793_1794	c.1577_1578delCC	c.(1576-1578)cccfs	p.P526fs	CARD10_ENST00000251973.5_Frame_Shift_Del_p.P526fs|CARD10_ENST00000406271.3_Frame_Shift_Del_p.P240fs			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	526					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					AGCCGGCACTGGGGGGGAAGGG	0.644																																						ENST00000403299.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1576-1578)cfs		caspase recruitment domain family, member 10																																				SO:0001589	frameshift_variant	29775				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity	g.chr22:37900249_37900250delGG	AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.1577_1578delCC	22.37:g.37900253_37900254delGG	ENSP00000384570:p.Pro526fs					CARD10_ENST00000251973.5_Frame_Shift_Del_p.P526fs|CARD10_ENST00000406271.3_Frame_Shift_Del_p.P240fs	p.P526fs			Q9BWT7	CAR10_HUMAN			10	1793_1794	-	Melanoma(58;0.0574)		526					Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Frame_Shift_Del	DEL	ENST00000403299.1	37	c.1577_1578delCC	CCDS13948.1																																																																																				0.644	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550		2	4						2	4	---	---	---	---	-	37900250	GG	-	37900249	7	5	410	1	0	1	0	1	0	0	0	0	2644	1335	47	0	1568	0	CARD10	22	37900249	Frame_Shift_Del	DEL	GG	TCGA-FE-A236-01A-11D-A16O-08		37900249	13404317	12	8414											
RCC1	1104	broad.mit.edu	37	chr1	28863397	28863397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggcctctgtggggtatgCtgtgaccaaggatggtgagt	18	6	1	2			TCGA-FE-A237-01A-11D-A16O-08	TCGA-FE-A237-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54b53361-ddd7-414b-9994-bc6c988a0840	27780227-aefb-43bc-b57a-a2d7298bb0a2	g.chr1:28863397C>T	ENST00000373833.6	+	12	1361	c.1076C>T	c.(1075-1077)gCt>gTt	p.A359V	RCC1_ENST00000373832.1_Missense_Mutation_p.A359V|RCC1_ENST00000398958.2_Missense_Mutation_p.A359V|RCC1_ENST00000373831.3_Missense_Mutation_p.A390V			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	359					chromosome segregation (GO:0007059)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of Ran GTPase activity (GO:0032853)|regulation of mitosis (GO:0007088)|spindle assembly (GO:0051225)|viral process (GO:0016032)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosomal DNA binding (GO:0031492)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGGGTATGCTGTGACCAAG	0.587																																						ENST00000373833.6																			0				breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14						c.(1075-1077)gCt>gTt		regulator of chromosome condensation 1							148	148	148					1																	28863397		2203	4300	6503	SO:0001583	missense	1104				cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity	g.chr1:28863397C>T	X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198			1913	protein-coding gene	gene with protein product		179710	"chromosome condensation 1"	CHC1		7851910	Standard	NM_001048199		Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373833.6:c.1076C>T	1.37:g.28863397C>T	ENSP00000362939:p.Ala359Val					RCC1_ENST00000398958.2_Missense_Mutation_p.A359V|RCC1_ENST00000373831.3_Missense_Mutation_p.A390V|RCC1_ENST00000373832.1_Missense_Mutation_p.A359V	p.A359V			P18754	RCC1_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)	12	1361	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)	359					Q16269|Q6NT97	Missense_Mutation	SNP	ENST00000373833.6	37	c.1076C>T	CCDS323.1	.	.	.	.	.	.	.	.	.	.	C	36	5.619534	0.96649	.	.	ENSG00000180198	ENST00000398958;ENST00000373833;ENST00000373832;ENST00000373831	D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44	5.8	5.8	0.92144	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.94128	0.8117	M	0.74467	2.265	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.99	D;P;P	0.67231	0.95;0.906;0.752	D	0.94291	0.7528	10	0.87932	D	0	-10.8781	18.6252	0.91334	0.0:1.0:0.0:0.0	.	390;376;359	P18754-2;E9PAT9;P18754	.;.;RCC1_HUMAN	V	359;359;359;390	ENSP00000381931:A359V;ENSP00000362939:A359V;ENSP00000362938:A359V;ENSP00000362937:A390V	ENSP00000362937:A390V	A	+	2	0	RCC1	28735984	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.783000	0.85696	2.741000	0.93983	0.655000	0.94253	GCT		0.587	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010323.3	NM_001269		4	192	0	0	0	0.000602	0	4	192					T	28863397	C	T	28863397	3	4	411	1	0	0	0	0	1	0	0	0	13173	797	28	2	1203	2	RCC1	1	28863397	Missense_Mutation	SNP	C	TCGA-FE-A237-01A-11D-A16O-08		28863397	220387224	1	8415											
ZNF502	91392	broad.mit.edu	37	chr3	44763193	44763193	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacactggtgagaagccttAcatatgcagtgaatgtggct	11	8	1	2			TCGA-FE-A237-01A-11D-A16O-08	TCGA-FE-A237-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54b53361-ddd7-414b-9994-bc6c988a0840	27780227-aefb-43bc-b57a-a2d7298bb0a2	g.chr3:44763193A>G	ENST00000296091.4	+	4	1140	c.884A>G	c.(883-885)tAc>tGc	p.Y295C	ZNF502_ENST00000436624.2_Missense_Mutation_p.Y295C|ZNF502_ENST00000449836.1_Missense_Mutation_p.Y295C	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	295					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)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		GAGAAGCCTTACATATGCAGT	0.398																																						ENST00000296091.4																			0				NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19						c.(883-885)tAc>tGc		zinc finger protein 502							194	200	198					3																	44763193		2203	4300	6503	SO:0001583	missense	91392				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44763193A>G	AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"Zinc fingers, C2H2-type"	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.884A>G	3.37:g.44763193A>G	ENSP00000296091:p.Tyr295Cys					ZNF502_ENST00000449836.1_Missense_Mutation_p.Y295C|ZNF502_ENST00000436624.2_Missense_Mutation_p.Y295C	p.Y295C	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)	4	1140	+			295						Missense_Mutation	SNP	ENST00000296091.4	37	c.884A>G	CCDS2719.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.10|12.10	1.836290|1.836290	0.32421|0.32421	.|.	.|.	ENSG00000196653|ENSG00000196653	ENST00000427783|ENST00000449836;ENST00000296091;ENST00000436624	.|T;T;T	.|0.25414	.|1.8;1.8;1.8	4.27|4.27	3.01|3.01	0.34805|0.34805	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.49440|0.49440	0.1557|0.1557	M|M	0.85462|0.85462	2.755|2.755	0.26694|0.26694	N|N	0.971293|0.971293	.|D	.|0.89917	.|1.0	.|D	.|0.73380	.|0.98	T|T	0.34700|0.34700	-0.9818|-0.9818	6|9	0.27785|0.87932	T|D	0.31|0	-18.028|-18.028	6.0218|6.0218	0.19632|0.19632	0.6787:0.163:0.0:0.1583|0.6787:0.163:0.0:0.1583	.|.	.|295	.|Q8TBZ5	.|ZN502_HUMAN	A|C	295|295	.|ENSP00000397390:Y295C;ENSP00000296091:Y295C;ENSP00000406469:Y295C	ENSP00000397812:T295A|ENSP00000296091:Y295C	T|Y	+|+	1|2	0|0	ZNF502|ZNF502	44738197|44738197	0.000000|0.000000	0.05858|0.05858	0.881000|0.881000	0.34555|0.34555	0.522000|0.522000	0.34438|0.34438	-0.431000|-0.431000	0.06965|0.06965	1.931000|1.931000	0.55961|0.55961	0.533000|0.533000	0.62120|0.62120	ACA|TAC		0.398	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	NM_033210		7	330	0	0	0	0.004482	0	7	330					G	44763193	A	G	44763193	3	3	411	1	0	0	0	0	1	0	0	0	17947	391	14	3	890	3	ZNF502	3	44763193	Missense_Mutation	SNP	A	TCGA-FE-A237-01A-11D-A16O-08		44763193	153259237	2	8416											
CD200R1	131450	broad.mit.edu	37	chr3	112644003	112644003	+	Silent	SNP	T	T	A													ataatagtaaggatgatataTggaatatataattttgctga							TCGA-FE-A237-01A-11D-A16O-08	TCGA-FE-A237-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54b53361-ddd7-414b-9994-bc6c988a0840	27780227-aefb-43bc-b57a-a2d7298bb0a2	g.chr3:112644003T>A	ENST00000471858.1	-	5	970	c.738A>T	c.(736-738)ccA>ccT	p.P246P	CD200R1_ENST00000295863.4_Intron|CD200R1_ENST00000308611.3_Silent_p.P269P	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	246					regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						GGATGATATATGGAATATATA	0.299																																						ENST00000471858.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						c.(736-738)ccA>ccT		CD200 receptor 1							55	60	59					3																	112644003		2203	4299	6502	SO:0001819	synonymous_variant	131450				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr3:112644003T>A	AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"Immunoglobulin superfamily / C2-set domain containing"	24235	protein-coding gene	gene with protein product		607546	"MOX2 receptor"	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.738A>T	3.37:g.112644003T>A						CD200R1_ENST00000308611.3_Silent_p.P269P|CD200R1_ENST00000295863.4_Intron	p.P246P	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN			5	970	-			246					B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Silent	SNP	ENST00000471858.1	37	c.738A>T	CCDS2970.1																																																																																				0.299	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354467.1	NM_138806		5	62	0	0	0	0.000602	0	5	62					A	112644003	T	A	112644003	2	1	411	1	0	0	0	0	0	0	0	1	2981	1451	51	5		5	CD200R1	3	112644003	Silent	SNP	T	TCGA-FE-A237-01A-11D-A16O-08	67880810	112644003	85378427	3	8417	48	2									
CD200R1	131450	broad.mit.edu	37	chr3	112644004	112644004	+	Missense_Mutation	SNP	G	G	A													taatagtaaggatgatatatGgaatatataattttgctgat							TCGA-FE-A237-01A-11D-A16O-08	TCGA-FE-A237-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54b53361-ddd7-414b-9994-bc6c988a0840	27780227-aefb-43bc-b57a-a2d7298bb0a2	g.chr3:112644004G>A	ENST00000471858.1	-	5	969	c.737C>T	c.(736-738)cCa>cTa	p.P246L	CD200R1_ENST00000295863.4_Intron|CD200R1_ENST00000308611.3_Missense_Mutation_p.P269L	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	246					regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						GATGATATATGGAATATATAA	0.299																																						ENST00000471858.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						c.(736-738)cCa>cTa		CD200 receptor 1							55	60	58					3																	112644004		2203	4299	6502	SO:0001583	missense	131450				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr3:112644004G>A	AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"Immunoglobulin superfamily / C2-set domain containing"	24235	protein-coding gene	gene with protein product		607546	"MOX2 receptor"	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.737C>T	3.37:g.112644004G>A	ENSP00000418928:p.Pro246Leu					CD200R1_ENST00000308611.3_Missense_Mutation_p.P269L|CD200R1_ENST00000295863.4_Intron	p.P246L	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN			5	969	-			246					B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Missense_Mutation	SNP	ENST00000471858.1	37	c.737C>T	CCDS2970.1	.	.	.	.	.	.	.	.	.	.	G	5.636	0.301962	0.10678	.	.	ENSG00000163606	ENST00000471858;ENST00000308611	T;T	0.12672	2.66;2.68	4.95	-4.22	0.03800	.	0.720518	0.11728	N	0.535194	T	0.03263	0.0095	N	0.02916	-0.46	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39143	-0.9628	10	0.17832	T	0.49	.	0.3539	0.00353	0.2983:0.1417:0.1779:0.3822	.	246;269	Q8TD46;Q8TD46-4	MO2R1_HUMAN;.	L	246;269	ENSP00000418928:P246L;ENSP00000311035:P269L	ENSP00000311035:P269L	P	-	2	0	CD200R1	114126694	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.975000	0.03790	-0.828000	0.04273	-0.459000	0.05422	CCA		0.299	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354467.1	NM_138806		5	62	0	0	0	0.000602	0	5	62					A	112644004	G	A	112644004	3	1	411	1	0	0	0	0	1	0	0	0	2981	1348	47	2	252	2	CD200R1	3	112644004	Missense_Mutation	SNP	G	TCGA-FE-A237-01A-11D-A16O-08	1	112644004	85378426	4	8418	48	2									
CRIPAK	285464	broad.mit.edu	37	chr4	1389546	1389546	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctgccggccgagtcagAcgctgttaccgtacattcta	10	13	2	1			TCGA-FE-A237-01A-11D-A16O-08	TCGA-FE-A237-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54b53361-ddd7-414b-9994-bc6c988a0840	27780227-aefb-43bc-b57a-a2d7298bb0a2	g.chr4:1389546A>G	ENST00000324803.4	+	1	4207	c.1247A>G	c.(1246-1248)gAc>gGc	p.D416G		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	416	Interaction with PAK1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCGAGTCAGACGCTGTTACC	0.502																																						ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(1246-1248)gAc>gGc		cysteine-rich PAK1 inhibitor							156	150	152					4																	1389546		2203	4300	6503	SO:0001583	missense	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1389546A>G	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.1247A>G	4.37:g.1389546A>G	ENSP00000323978:p.Asp416Gly						p.D416G	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	4207	+			416			Interaction with PAK1.		Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	c.1247A>G	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	A	8.106	0.777821	0.16120	.	.	ENSG00000179979	ENST00000324803;ENST00000382944	T	0.25912	1.77	0.789	-0.554	0.11811	.	.	.	.	.	T	0.09202	0.0227	N	0.08118	0	0.09310	N	1	P	0.34977	0.478	B	0.23716	0.048	T	0.19451	-1.0305	9	0.87932	D	0	.	2.8914	0.05677	0.663:0.0:0.337:0.0	.	416	Q8N1N5	CRPAK_HUMAN	G	416;358	ENSP00000323978:D416G	ENSP00000323978:D416G	D	+	2	0	CRIPAK	1379546	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.288000	0.08377	-0.206000	0.10203	-0.379000	0.06801	GAC		0.502	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		3	95	0	0	0	0.004672	0	3	95					G	1389546	A	G	1389546	3	3	411	1	0	0	0	0	1	0	0	0	3877	275	10	3	1249	3	CRIPAK	4	1389546	Missense_Mutation	SNP	A	TCGA-FE-A237-01A-11D-A16O-08		1389546	189764730	5	8419											
ZNF451	26036	broad.mit.edu	37	chr6	57012664	57012664	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcagctattactgttattgAtcattccccggcaaatagtt	6	9	2	1			TCGA-FE-A237-01A-11D-A16O-08	TCGA-FE-A237-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54b53361-ddd7-414b-9994-bc6c988a0840	27780227-aefb-43bc-b57a-a2d7298bb0a2	g.chr6:57012664A>G	ENST00000370706.4	+	10	2025	c.1781A>G	c.(1780-1782)gAt>gGt	p.D594G	RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.D594G|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.D594G|RP11-203B9.4_ENST00000589263.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	594					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ACTGTTATTGATCATTCCCCG	0.408																																						ENST00000370706.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1780-1782)gAt>gGt		zinc finger protein 451							117	114	115					6																	57012664		2203	4300	6503	SO:0001583	missense	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:57012664A>G	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"Zinc fingers, C2H2-type"	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.1781A>G	6.37:g.57012664A>G	ENSP00000359740:p.Asp594Gly					RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.D594G|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.D594G|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA	p.D594G	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		10	2025	+	Lung NSC(77;0.145)		594					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	c.1781A>G	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	A	5.458	0.269669	0.10349	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	T;T;T	0.18657	2.21;2.2;2.2	5.41	4.13	0.48395	.	0.372450	0.25089	N	0.033240	T	0.06872	0.0175	L	0.44542	1.39	0.23101	N	0.998291	B;B;B;B	0.33171	0.4;0.172;0.105;0.172	B;B;B;B	0.28011	0.085;0.039;0.058;0.039	T	0.15009	-1.0452	10	0.25751	T	0.34	-11.8209	11.4721	0.50275	0.8565:0.0:0.0:0.1435	.	594;594;594;594	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	G	594	ENSP00000359740:D594G;ENSP00000350083:D594G;ENSP00000421645:D594G	ENSP00000350083:D594G	D	+	2	0	ZNF451	57120623	0.966000	0.33281	0.925000	0.36789	0.116000	0.19942	2.367000	0.44213	2.047000	0.60756	0.528000	0.53228	GAT		0.408	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		3	73	0	0	0	0.000602	0	3	73					G	57012664	A	G	57012664	3	3	411	1	0	0	0	0	1	0	0	0	17919	333	12	3	1819	3	ZNF451	6	57012664	Missense_Mutation	SNP	A	TCGA-FE-A237-01A-11D-A16O-08		57012664	114102403	6	8420											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FE-A237-01A-11D-A16O-08	TCGA-FE-A237-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54b53361-ddd7-414b-9994-bc6c988a0840	27780227-aefb-43bc-b57a-a2d7298bb0a2	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		27	51	0	0	0	0.007291	0	27	51					T	140453136	A	T	140453136	3	4	411	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FE-A237-01A-11D-A16O-08		140453136	18685527	7	8421											
PLAU	414236	broad.mit.edu	37	chr10	75673298	75673298	+	Intron	DEL	A	A	-													ccctctgtttgtcctccaggAaaaaagccctcctctcctcc							TCGA-FE-A237-01A-11D-A16O-08	TCGA-FE-A237-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54b53361-ddd7-414b-9994-bc6c988a0840	27780227-aefb-43bc-b57a-a2d7298bb0a2	g.chr10:75673298delA	ENST00000409178.1	-	3	268				C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000446342.1_Splice_Site_p.G137fs|PLAU_ENST00000372764.3_Splice_Site_p.G154fs|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372762.4_Splice_Site_p.G118fs	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55											endometrium(1)	1	Prostate(51;0.0112)					GTCCTCCAGGAAAAAAGCCCT	0.517																																						ENST00000446342.1																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16						c.e6-1		plasminogen activator, urokinase	Amiloride(DB00594)|Urokinase(DB00013)						156	188	177					10																	75673298		2203	4300	6503	SO:0001627	intron_variant	5328				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr10:75673298delA		CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.73-465T>-	10.37:g.75673298delA						C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372762.4_Splice_Site_p.G118_splice|C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372764.3_Splice_Site_p.G154_splice	p.G137_splice	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN			6	893	+	Prostate(51;0.0112)		154			Kringle.		Q3KRG4|Q8NAK4	Splice_Site	DEL	ENST00000409178.1	37	c.409_splice	CCDS53541.1																																																																																				0.517	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1	NM_001001791		8	517						8	517	---	---	---	---	-	75673298	A	-	75673298	6	5	411	0	1	1	0	1	0	0	0	0	12022	260	9	0		0	PLAU	10	75673298	Intron	DEL	A	TCGA-FE-A237-01A-11D-A16O-08		75673298	59861449	8	8422											
DNAH2	146754	broad.mit.edu	37	chr17	7667276	7667276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaatggcagaacaagttcGcgactctgctcagggagatg	13	8	2	3			TCGA-FE-A237-01A-11D-A16O-08	TCGA-FE-A237-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54b53361-ddd7-414b-9994-bc6c988a0840	27780227-aefb-43bc-b57a-a2d7298bb0a2	g.chr17:7667276G>A	ENST00000572933.1	+	19	4566	c.3106G>A	c.(3106-3108)Gcg>Acg	p.A1036T	DNAH2_ENST00000389173.2_Missense_Mutation_p.A1036T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1036	Stem. {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(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GAACAAGTTCGCGACTCTGCT	0.592																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(3106-3108)Gcg>Acg		dynein, axonemal, heavy chain 2							87	79	81					17																	7667276		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7667276G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.3106G>A	17.37:g.7667276G>A	ENSP00000458355:p.Ala1036Thr					DNAH2_ENST00000389173.2_Missense_Mutation_p.A1036T	p.A1036T			Q9P225	DYH2_HUMAN			19	4566	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1036			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.3106G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	5.657	0.305766	0.10733	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.46819	0.86	4.9	2.68	0.31781	.	0.063063	0.64402	N	0.000009	T	0.08582	0.0213	N	0.00027	-2.65	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07443	-1.0772	10	0.14252	T	0.57	.	8.2128	0.31494	0.8285:0.0:0.1715:0.0	.	1036	Q9P225	DYH2_HUMAN	T	1036	ENSP00000373825:A1036T	ENSP00000353818:A1036T	A	+	1	0	DNAH2	7608001	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	5.317000	0.65822	0.699000	0.31761	-0.417000	0.06048	GCG		0.592	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		5	48	0	0	0	0.001984	0	5	48					A	7667276	G	A	7667276	3	1	411	1	0	0	0	0	1	0	0	0	4602	1087	38	1	3176	1	DNAH2	17	7667276	Missense_Mutation	SNP	G	TCGA-FE-A237-01A-11D-A16O-08		7667276	73527934	9	8423											
PSG8	440533	broad.mit.edu	37	chr19	43259223	43259223	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gatagggtcctgtttcatttCtcgtgacactgggtagaatg	12	7	2	2			TCGA-FE-A237-01A-11D-A16O-08	TCGA-FE-A237-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54b53361-ddd7-414b-9994-bc6c988a0840	27780227-aefb-43bc-b57a-a2d7298bb0a2	g.chr19:43259223C>G	ENST00000306511.4	-	4	1002	c.905G>C	c.(904-906)aGa>aCa	p.R302T	PSG8_ENST00000404209.4_Missense_Mutation_p.R302T|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000406636.3_Missense_Mutation_p.R180T|PSG8_ENST00000401467.2_Missense_Mutation_p.R209T	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	302	Ig-like C2-type 2.					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)				TGTTTCATTTCTCGTGACACT	0.478																																						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.(904-906)aGa>aCa		pregnancy specific beta-1-glycoprotein 8							137	137	137					19																	43259223		2203	4298	6501	SO:0001583	missense	0					extracellular region		g.chr19:43259223C>G	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.905G>C	19.37:g.43259223C>G	ENSP00000305005:p.Arg302Thr					PSG8_ENST00000406636.3_Missense_Mutation_p.R180T|PSG8_ENST00000306511.4_Missense_Mutation_p.R302T|PSG8_ENST00000401467.2_Missense_Mutation_p.R209T|PSG8_ENST00000600709.1_Intron	p.R302T	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN			4	1001	-		Prostate(69;0.00899)	302			Ig-like C2-type 2.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.905G>C	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	N	0.626	-0.819037	0.02776	.	.	ENSG00000124467	ENST00000404209;ENST00000406636;ENST00000401467;ENST00000426252;ENST00000407488;ENST00000306511	T;T;T;T	0.12361	2.69;2.69;2.69;2.69	1.38	1.38	0.22167	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.36331	0.0963	M	0.91510	3.215	0.09310	N	0.999996	D;D;D;B;D;D	0.89917	0.995;1.0;1.0;0.174;0.975;0.98	D;D;D;B;P;P	0.97110	0.948;1.0;0.994;0.264;0.848;0.906	T	0.35001	-0.9806	9	0.13853	T	0.58	.	6.1171	0.20132	0.0:1.0:0.0:0.0	.	180;209;302;209;302;302	Q9UQ74-2;B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;.;PSG8_HUMAN;.;.;.	T	302;180;209;114;209;302	ENSP00000385869:R302T;ENSP00000385081:R180T;ENSP00000386090:R209T;ENSP00000305005:R302T	ENSP00000305005:R302T	R	-	2	0	PSG8	47951063	0.237000	0.23815	0.241000	0.24154	0.018000	0.09664	1.918000	0.40006	0.731000	0.32448	0.298000	0.19748	AGA		0.478	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			22	210	0	0	0	0.007291	0	22	210					G	43259223	C	G	43259223	3	3	411	1	0	0	0	0	1	0	0	0	12661	913	32	4	404	4	PSG8	19	43259223	Missense_Mutation	SNP	C	TCGA-FE-A237-01A-11D-A16O-08		43259223	15869760	10	8424											
TSC22D3	392517	broad.mit.edu	37	chrX	107018377	107018377	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtctggtcgatgttgcgGttgcagatgccctcgttgat	14	8	1	2			TCGA-FE-A237-01A-11D-A16O-08	TCGA-FE-A237-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54b53361-ddd7-414b-9994-bc6c988a0840	27780227-aefb-43bc-b57a-a2d7298bb0a2	g.chrX:107018377G>A	ENST00000509000.2	+	0	0				TSC22D3_ENST00000315660.4_Silent_p.N91N|TSC22D3_ENST00000514426.1_Silent_p.N23N|TSC22D3_ENST00000372384.2_Silent_p.N91N|TSC22D3_ENST00000506081.1_Silent_p.N91N|TSC22D3_ENST00000372383.4_Silent_p.N91N			A6PVI3	NCB2L_HUMAN	nuclear cap binding protein subunit 2-like						mRNA cis splicing, via spliceosome (GO:0045292)	nuclear cap binding complex (GO:0005846)	nucleotide binding (GO:0000166)|RNA cap binding (GO:0000339)			large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	5						CGATGTTGCGGTTGCAGATGC	0.597																																						ENST00000372383.4																			0				breast(1)|large_intestine(2)|lung(3)	6						c.(271-273)aaC>aaT		TSC22 domain family, member 3							178	119	139					X																	107018377		2203	4300	6503	SO:0001631	upstream_gene_variant	1831						sequence-specific DNA binding transcription factor activity	g.chrX:107018377G>A			Xq22.3	2013-02-12			ENSG00000170935	ENSG00000170935		"RNA binding motif (RRM) containing"	31795	protein-coding gene	gene with protein product							Standard	NG_011409		Approved			A6PVI3	OTTHUMG00000022169		X.37:g.107018377G>A	Exception_encountered					TSC22D3_ENST00000506081.1_Silent_p.N91N|TSC22D3_ENST00000315660.4_Silent_p.N91N|TSC22D3_ENST00000514426.1_Silent_p.N23N|TSC22D3_ENST00000372384.2_Silent_p.N91N	p.N91N	NM_198057.2	NP_932174.1	Q99576	T22D3_HUMAN			1	640	-			0			Leucine-zipper.			Silent	SNP	ENST00000509000.2	37	c.273C>T																																																																																					0.597	NCBP2L-001	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000057850.2	XM_373362		4	107	0	0	0	0.000602	0	4	107					A	107018377	G	A	107018377	1	1	411	0	1	0	0	0	0	0	0	0	16606	1252	44	2		2	TSC22D3	23	107018377	5'Flank	SNP	G	TCGA-FE-A237-01A-11D-A16O-08		107018377	48252183	11	8425											
STRN	6801	broad.mit.edu	37	chr2	37088300	37088300	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaatcataggggtcgatgttGggattagtggtattccagcc	14	6	1	0			TCGA-FE-A23A-01A-11D-A17V-08	TCGA-FE-A23A-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60711e67-e8c1-470a-8e9e-1b87e0499e61	7ead3f16-6be4-4546-872e-6af784e1258c	g.chr2:37088300G>C	ENST00000263918.4	-	13	1652	c.1644C>G	c.(1642-1644)ccC>ccG	p.P548P	STRN_ENST00000379213.2_Silent_p.P499P	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	548					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				GGTCGATGTTGGGATTAGTGG	0.408																																						ENST00000263918.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(1642-1644)ccC>ccG		striatin, calmodulin binding protein							166	136	146					2																	37088300		2203	4300	6503	SO:0001819	synonymous_variant	6801				dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding	g.chr2:37088300G>C	AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"WD repeat domain containing"	11424	protein-coding gene	gene with protein product		614765	"striatin, calmodulin-binding protein"			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.1644C>G	2.37:g.37088300G>C						STRN_ENST00000379213.2_Silent_p.P499P	p.P548P	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN			13	1652	-		Ovarian(717;0.0129)|all_hematologic(82;0.21)	548					Q3KP65|Q53TQ8|Q9NP38	Silent	SNP	ENST00000263918.4	37	c.1644C>G	CCDS1784.1																																																																																				0.408	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1			3	35	0	0	0	0.000248	0	3	35					C	37088300	G	C	37088300	2	2	412	1	0	0	0	0	0	0	0	1	15328	1335	47	4		4	STRN	2	37088300	Silent	SNP	G	TCGA-FE-A23A-01A-11D-A17V-08		37088300	206111073	1	8426											
PAPOLG	64895	broad.mit.edu	37	chr2	60988874	60988874	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgaagcatttttttttatAggctggtggttcttggtaaa	10	4	2	1			TCGA-FE-A23A-01A-11D-A17V-08	TCGA-FE-A23A-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60711e67-e8c1-470a-8e9e-1b87e0499e61	7ead3f16-6be4-4546-872e-6af784e1258c	g.chr2:60988874A>G	ENST00000238714.3	+	3	428		c.e3-1			NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma						mRNA polyadenylation (GO:0006378)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			TTTTTTTTATAGGCTGGTGGT	0.328																																					GBM(183;1497 2932 21839 46797)	ENST00000238714.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35						c.e3-1		poly(A) polymerase gamma							71	83	79					2																	60988874		2203	4300	6503	SO:0001630	splice_region_variant	64895				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr2:60988874A>G	AC012498	CCDS1863.1	2p16.1	2008-02-08			ENSG00000115421	ENSG00000115421	2.7.7.19		14982	protein-coding gene	gene with protein product							Standard	NM_022894		Approved	FLJ12972	uc002sai.3	Q9BWT3	OTTHUMG00000129419	ENST00000238714.3:c.180-1A>G	2.37:g.60988874A>G								NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)		3	428	+	all_hematologic(2;0.0797)							B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0	Splice_Site	SNP	ENST00000238714.3	37		CCDS1863.1	.	.	.	.	.	.	.	.	.	.	A	11.24	1.579692	0.28180	.	.	ENSG00000115421	ENST00000238714	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.957	0.71124	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PAPOLG	60842378	1.000000	0.71417	0.998000	0.56505	0.046000	0.14306	8.925000	0.92832	2.092000	0.63282	0.533000	0.62120	.		0.328	PAPOLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251577.3	NM_022894	Intron	3	40	0	0	0	0.004672	0	3	40					G	60988874	A	G	60988874	5	3	412	1	0	0	0	0	0	0	1	0	11431	434	15	3	188	3	PAPOLG	2	60988874	Splice_Site	SNP	A	TCGA-FE-A23A-01A-11D-A17V-08	23900574	60988874	182210499	2	8427											
CD109	135228	broad.mit.edu	37	chr6	74528131	74528131	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttcgggcccgggtaggaGtggcatggctcttatggaag	16	8	1	0			TCGA-FE-A23A-01A-11D-A17V-08	TCGA-FE-A23A-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60711e67-e8c1-470a-8e9e-1b87e0499e61	7ead3f16-6be4-4546-872e-6af784e1258c	g.chr6:74528131G>A	ENST00000287097.5	+	31	4044	c.3932G>A	c.(3931-3933)aGt>aAt	p.S1311N	CD109_ENST00000437994.2_Missense_Mutation_p.S1294N|CD109_ENST00000422508.2_Missense_Mutation_p.S1234N			Q6YHK3	CD109_HUMAN	CD109 molecule	1311					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCGGGTAGGAGTGGCATGGCT	0.408																																						ENST00000437994.2																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(3880-3882)aGt>aAt		CD109 molecule							99	98	98					6																	74528131		2203	4300	6503	SO:0001583	missense	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74528131G>A	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.3932G>A	6.37:g.74528131G>A	ENSP00000287097:p.Ser1311Asn					CD109_ENST00000422508.2_Missense_Mutation_p.S1234N|CD109_ENST00000287097.5_Missense_Mutation_p.S1311N	p.S1294N	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN			31	4312	+			1311					A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	c.3881G>A	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.424679	0.43020	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.39406	1.08;1.08;1.08	4.59	3.68	0.42216	Alpha-macroglobulin, receptor-binding (3);	0.155014	0.64402	D	0.000018	T	0.57095	0.2030	M	0.92219	3.285	0.27953	N	0.937051	P;D;D	0.71674	0.9;0.998;0.976	P;D;D	0.71656	0.471;0.974;0.952	T	0.56872	-0.7907	10	0.87932	D	0	.	8.428	0.32739	0.0821:0.157:0.761:0.0	.	1234;1294;1311	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	N	1294;1234;1311	ENSP00000388062:S1294N;ENSP00000404475:S1234N;ENSP00000287097:S1311N	ENSP00000287097:S1311N	S	+	2	0	CD109	74584852	1.000000	0.71417	0.486000	0.27416	0.182000	0.23217	2.198000	0.42705	1.225000	0.43566	0.484000	0.47621	AGT		0.408	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		5	26	0	0	0	0.001984	0	5	26					A	74528131	G	A	74528131	3	1	412	1	0	0	0	0	1	0	0	0	2963	1029	36	2	4054	2	CD109	6	74528131	Missense_Mutation	SNP	G	TCGA-FE-A23A-01A-11D-A17V-08		74528131	96586936	3	8428											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FE-A23A-01A-11D-A17V-08	TCGA-FE-A23A-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60711e67-e8c1-470a-8e9e-1b87e0499e61	7ead3f16-6be4-4546-872e-6af784e1258c	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		10	21	0	0	0	0.006214	0	10	21					T	140453136	A	T	140453136	3	4	412	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FE-A23A-01A-11D-A17V-08		140453136	18685527	4	8429											
OR4L1	122742	broad.mit.edu	37	chr14	20528322	20528322	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatctacggtgctactgtgaTgggaaacattctcattatgg	11	7	2	1			TCGA-FE-A23A-01A-11D-A17V-08	TCGA-FE-A23A-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60711e67-e8c1-470a-8e9e-1b87e0499e61	7ead3f16-6be4-4546-872e-6af784e1258c	g.chr14:20528322T>A	ENST00000315683.1	+	1	119	c.119T>A	c.(118-120)aTg>aAg	p.M40K		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	40			M -> V (in dbSNP:rs1958716).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GCTACTGTGATGGGAAACATT	0.398																																						ENST00000315683.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(118-120)aTg>aAg		olfactory receptor, family 4, subfamily L, member 1							180	185	184					14																	20528322		2203	4300	6503	SO:0001583	missense	122742				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20528322T>A		CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"GPCR / Class A : Olfactory receptors"	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.119T>A	14.37:g.20528322T>A	ENSP00000319217:p.Met40Lys						p.M40K	NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	119	+	all_cancers(95;0.00108)		40		M -> V (in dbSNP:rs1958716).			Q6IEZ5	Missense_Mutation	SNP	ENST00000315683.1	37	c.119T>A	CCDS32029.1	.	.	.	.	.	.	.	.	.	.	.	10.51	1.371535	0.24771	.	.	ENSG00000176246	ENST00000315683	T	0.00458	7.28	3.84	2.65	0.31530	.	1.004810	0.08017	N	0.991451	T	0.00580	0.0019	M	0.78344	2.41	0.09310	N	1	B	0.12013	0.005	B	0.20955	0.032	T	0.48725	-0.9010	10	0.87932	D	0	.	3.9941	0.09549	0.0:0.1122:0.2175:0.6702	.	40	Q8NH43	OR4L1_HUMAN	K	40	ENSP00000319217:M40K	ENSP00000319217:M40K	M	+	2	0	OR4L1	19598162	0.000000	0.05858	0.079000	0.20413	0.966000	0.64601	-0.005000	0.12855	0.621000	0.30232	0.520000	0.50463	ATG		0.398	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1			12	36	0	0	0	0.003954	0	12	36					A	20528322	T	A	20528322	3	1	412	1	0	0	0	0	1	0	0	0	11074	1464	51	5	121	5	OR4L1	14	20528322	Missense_Mutation	SNP	T	TCGA-FE-A23A-01A-11D-A17V-08		20528322	86821218	5	8430											
SLC6A2	6530	broad.mit.edu	37	chr16	55732393	55732393	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgccagggtggaatttacGtcttgaccctcctggacacc	11	12	1	1	rs201885636	byFrequency	TCGA-FE-A23A-01A-11D-A17V-08	TCGA-FE-A23A-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60711e67-e8c1-470a-8e9e-1b87e0499e61	7ead3f16-6be4-4546-872e-6af784e1258c	g.chr16:55732393G>A	ENST00000379906.2	+	10	1657	c.1402G>A	c.(1402-1404)Gtc>Atc	p.V468I	SLC6A2_ENST00000219833.8_Missense_Mutation_p.V468I|SLC6A2_ENST00000568943.1_Missense_Mutation_p.V468I|SLC6A2_ENST00000414754.3_Missense_Mutation_p.V468I|SLC6A2_ENST00000561820.1_Missense_Mutation_p.V468I|SLC6A2_ENST00000567238.1_Missense_Mutation_p.V363I|SLC6A2_ENST00000566163.1_Missense_Mutation_p.V423I	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	468					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TGGAATTTACGTCTTGACCCT	0.522													G|||	3	0.000599042	0	0	5008	,	,		19175	0.001		0	False		,,,				2504	0.002					ENST00000379906.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(1402-1404)Gtc>Atc		solute carrier family 6 (neurotransmitter transporter), member 2	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)						148	126	133					16																	55732393		2198	4300	6498	SO:0001583	missense	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55732393G>A		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"Solute carriers"	11048	protein-coding gene	gene with protein product	"norepinephrine transporter"	163970	"solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1402G>A	16.37:g.55732393G>A	ENSP00000369237:p.Val468Ile					SLC6A2_ENST00000568943.1_Missense_Mutation_p.V468I|SLC6A2_ENST00000414754.3_Missense_Mutation_p.V468I|SLC6A2_ENST00000567238.1_Missense_Mutation_p.V363I|SLC6A2_ENST00000219833.8_Missense_Mutation_p.V468I|SLC6A2_ENST00000566163.1_Missense_Mutation_p.V423I|SLC6A2_ENST00000561820.1_Missense_Mutation_p.V468I	p.V468I	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	10	1657	+			468					B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	ENST00000379906.2	37	c.1402G>A	CCDS10754.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	15.46	2.840301	0.51057	.	.	ENSG00000103546	ENST00000414754;ENST00000537705;ENST00000379906;ENST00000219833	T;T;T	0.74315	-0.83;-0.83;-0.83	5.81	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.79347	0.4430	L	0.45698	1.435	0.53688	D	0.999972	D;D;D;D	0.67145	0.996;0.989;0.996;0.991	P;P;P;P	0.61070	0.883;0.701;0.883;0.802	T	0.76307	-0.3007	10	0.23891	T	0.37	.	15.8729	0.79136	0.0:0.1362:0.8638:0.0	.	468;182;363;468	Q96KH8;F5H0T4;B4DX48;P23975	.;.;.;SC6A2_HUMAN	I	468;182;468;468	ENSP00000394956:V468I;ENSP00000369237:V468I;ENSP00000219833:V468I	ENSP00000219833:V468I	V	+	1	0	SLC6A2	54289894	1.000000	0.71417	0.717000	0.30585	0.003000	0.03518	6.042000	0.70996	1.447000	0.47661	0.655000	0.94253	GTC		0.522	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			7	43	0	0	0	0.001984	0	7	43					A	55732393	G	A	55732393	3	1	412	1	0	0	0	0	1	0	0	0	14683	1145	40	1	1531	1	SLC6A2	16	55732393	Missense_Mutation	SNP	G	TCGA-FE-A23A-01A-11D-A17V-08		55732393	34622360	6	8431											
CIAPIN1	57019	broad.mit.edu	37	chr16	57474766	57474766	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agcttatccaccagacctttCagagcctccactggggatga	9	13	1	3			TCGA-FE-A23A-01A-11D-A17V-08	TCGA-FE-A23A-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60711e67-e8c1-470a-8e9e-1b87e0499e61	7ead3f16-6be4-4546-872e-6af784e1258c	g.chr16:57474766C>T	ENST00000569979.1	-	1	121	c.75G>A	c.(73-75)ctG>ctA	p.L25L	CIAPIN1_ENST00000568940.1_Silent_p.L25L|CIAPIN1_ENST00000569370.1_Silent_p.L25L|CIAPIN1_ENST00000569246.1_5'UTR|CIAPIN1_ENST00000567518.1_Silent_p.L25L|CIAPIN1_ENST00000394391.4_Silent_p.L25L|CIAPIN1_ENST00000565961.1_Silent_p.L25L					cytokine induced apoptosis inhibitor 1											cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						CCAGACCTTTCAGAGCCTCCA	0.522																																						ENST00000394391.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						c.(73-75)ctG>ctA		cytokine induced apoptosis inhibitor 1							71	69	70					16																	57474766		1954	4139	6093	SO:0001819	synonymous_variant	57019				anti-apoptosis|apoptosis	cytoplasm|nucleolus		g.chr16:57474766C>T	AF248964	CCDS10781.2	16q21	2012-09-20			ENSG00000005194	ENSG00000005194			28050	protein-coding gene	gene with protein product		608943				10493829, 11230166	Standard	XM_005256061		Approved	Anamorsin	uc002ell.1	Q6FI81	OTTHUMG00000133457	ENST00000569979.1:c.75G>A	16.37:g.57474766C>T						CIAPIN1_ENST00000565961.1_Silent_p.L25L|CIAPIN1_ENST00000569979.1_Silent_p.L25L|CIAPIN1_ENST00000569370.1_Silent_p.L25L|CIAPIN1_ENST00000569246.1_5'UTR|CIAPIN1_ENST00000568940.1_Silent_p.L25L|CIAPIN1_ENST00000567518.1_Silent_p.L25L	p.L25L	NM_020313.2	NP_064709.2	Q6FI81	CPIN1_HUMAN			2	316	-			25						Silent	SNP	ENST00000569979.1	37	c.75G>A																																																																																					0.522	CIAPIN1-010	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432580.1	NM_020313		9	57	0	0	0	0.004482	0	9	57					T	57474766	C	T	57474766	2	4	412	1	0	0	0	0	0	0	0	1	3419	813	29	2		2	CIAPIN1	16	57474766	Silent	SNP	C	TCGA-FE-A23A-01A-11D-A17V-08	1742373	57474766	32879987	7	8432											
MUC16	94025	broad.mit.edu	37	chr19	9090831	9090831	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttagtgtcatggaaaaAgggatagctgagttgggcat	14	4	1	1			TCGA-FE-A23A-01A-11D-A17V-08	TCGA-FE-A23A-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60711e67-e8c1-470a-8e9e-1b87e0499e61	7ead3f16-6be4-4546-872e-6af784e1258c	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(982-984)ccT>ccC		mucin 16, cell surface associated							96	95	96					19																	9090831		2041	4195	6236	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090831A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.984T>C	19.37:g.9090831A>G							p.P328P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	1187	-			328			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.984T>C	CCDS54212.1																																																																																				0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		3	69	0	0	0	0.004672	0	3	69					G	9090831	A	G	9090831	2	3	412	1	0	0	0	0	0	0	0	1	9973	59	3	3		3	MUC16	19	9090831	Silent	SNP	A	TCGA-FE-A23A-01A-11D-A17V-08		9090831	50038152	8	8433											
IRF3	3661	broad.mit.edu	37	chr19	50165681	50165681	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcctgcagctgacactcaCcttcccccggcaccaacagc	7	20	1	1			TCGA-FE-A23A-01A-11D-A17V-08	TCGA-FE-A23A-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60711e67-e8c1-470a-8e9e-1b87e0499e61	7ead3f16-6be4-4546-872e-6af784e1258c	g.chr19:50165681C>T	ENST00000597198.1	-	5	983		c.e5+1		IRF3_ENST00000600911.1_Splice_Site|IRF3_ENST00000601291.1_Splice_Site|IRF3_ENST00000377139.3_Splice_Site|IRF3_ENST00000593922.1_Splice_Site|IRF3_ENST00000600022.1_Splice_Site|IRF3_ENST00000596822.1_Splice_Site|IRF3_ENST00000309877.7_Splice_Site|IRF3_ENST00000377135.4_Splice_Site|IRF3_ENST00000596765.1_Splice_Site|IRF3_ENST00000598808.1_Splice_Site|IRF3_ENST00000599680.1_5'Flank|IRF3_ENST00000599144.1_Splice_Site|IRF3_ENST00000599223.1_Splice_Site			Q14653	IRF3_HUMAN	interferon regulatory factor 3						apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dsRNA (GO:0071359)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage apoptotic process (GO:0071888)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of interferon-beta biosynthetic process (GO:0045358)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|programmed necrotic cell death (GO:0097300)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		CTGACACTCACCTTCCCCCGG	0.662																																						ENST00000597198.1																			0				breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10						c.e5+1		interferon regulatory factor 3							19	22	21					19																	50165681		2202	4300	6502	SO:0001630	splice_region_variant	3661				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr19:50165681C>T		CCDS12775.1, CCDS56099.1, CCDS59407.1, CCDS59408.1, CCDS59409.1	19q13.3-q13.4	2008-07-16				ENSG00000126456			6118	protein-coding gene	gene with protein product		603734				8524823	Standard	NM_001571		Approved		uc002pow.3	Q14653		ENST00000597198.1:c.601+1G>A	19.37:g.50165681C>T						IRF3_ENST00000377135.4_Splice_Site|IRF3_ENST00000600022.1_Splice_Site|IRF3_ENST00000599144.1_Splice_Site|IRF3_ENST00000599223.1_Splice_Site|IRF3_ENST00000309877.7_Splice_Site|IRF3_ENST00000598808.1_Splice_Site|IRF3_ENST00000596822.1_Splice_Site|IRF3_ENST00000601291.1_Splice_Site|IRF3_ENST00000593922.1_Splice_Site|IRF3_ENST00000600911.1_Splice_Site|IRF3_ENST00000377139.3_Splice_Site|IRF3_ENST00000596765.1_Splice_Site				Q14653	IRF3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)	5	983	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)						A8K7L2|B2RAZ3|Q5FBY1|Q5FBY2|Q5FBY4|Q7Z5G6	Splice_Site	SNP	ENST00000597198.1	37		CCDS12775.1	.	.	.	.	.	.	.	.	.	.	.	12.26	1.884081	0.33255	.	.	ENSG00000126456	ENST00000377139;ENST00000309877;ENST00000377135	.	.	.	4.57	2.37	0.29283	.	.	.	.	.	.	.	.	.	.	.	0.36408	D	0.863555	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.3264	0.21246	0.0:0.7126:0.186:0.1014	.	.	.	.	.	-1	.	.	.	-	.	.	IRF3	54857493	0.986000	0.35501	0.965000	0.40720	0.181000	0.23173	3.410000	0.52664	0.635000	0.30488	0.651000	0.88453	.		0.662	IRF3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465962.1	NM_001571	Intron	6	16	0	0	0	0.001984	0	6	16					T	50165681	C	T	50165681	5	4	412	1	0	0	0	0	0	0	1	0	7831	521	18	2	697	2	IRF3	19	50165681	Splice_Site	SNP	C	TCGA-FE-A23A-01A-11D-A17V-08	41074850	50165681	8963302	9	8434											
HNRNPH2	3188	broad.mit.edu	37	chrX	100668067	100668067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagctcttcttaaattctaCtgcaggaacaagtgggggtg	13	7	3	0			TCGA-FE-A23A-01A-11D-A17V-08	TCGA-FE-A23A-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60711e67-e8c1-470a-8e9e-1b87e0499e61	7ead3f16-6be4-4546-872e-6af784e1258c	g.chrX:100668067C>T	ENST00000316594.5	+	2	1169	c.1091C>T	c.(1090-1092)aCt>aTt	p.T364I		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	364	2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.|RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						TTAAATTCTACTGCAGGAACA	0.433																																						ENST00000316594.5																			0				breast(3)|large_intestine(2)|lung(6)|skin(1)	12						c.(1090-1092)aCt>aTt		heterogeneous nuclear ribonucleoprotein H2 (H')							126	118	121					X																	100668067		2203	4300	6503	SO:0001583	missense	3188				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:100668067C>T	U01923	CCDS14485.1	Xq22	2013-02-12		2008-04-18	ENSG00000126945	ENSG00000126945		"RNA binding motif (RRM) containing"	5042	protein-coding gene	gene with protein product		300610		HNRPH2		7499401	Standard	NM_019597		Approved	hnRNPH', FTP3, HNRPH'	uc004ehn.3	P55795	OTTHUMG00000022029	ENST00000316594.5:c.1091C>T	X.37:g.100668067C>T	ENSP00000361927:p.Thr364Ile						p.T364I	NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN			2	1169	+			364			2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.|RRM 3.		A1L400|Q9HHA7	Missense_Mutation	SNP	ENST00000316594.5	37	c.1091C>T	CCDS14485.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.907114	0.33628	.	.	ENSG00000126945	ENST00000457902;ENST00000316594	T	0.31510	1.49	4.76	4.76	0.60689	RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.41003	0.1140	M	0.88241	2.94	0.33667	D	0.610471	B	0.17465	0.022	B	0.08055	0.003	T	0.57573	-0.7788	10	0.72032	D	0.01	-10.3673	12.1076	0.53821	0.0:1.0:0.0:0.0	.	364	P55795	HNRH2_HUMAN	I	319;364	ENSP00000361927:T364I	ENSP00000361927:T364I	T	+	2	0	HNRNPH2	100554723	0.861000	0.29849	1.000000	0.80357	0.995000	0.86356	1.034000	0.30204	2.345000	0.79718	0.513000	0.50165	ACT		0.433	HNRNPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057556.1	NM_019597		39	93	0	0	0	0.004878	0	39	93					T	100668067	C	T	100668067	3	4	412	1	0	0	0	0	1	0	0	0	7267	565	20	2	1093	2	HNRNPH2	23	100668067	Missense_Mutation	SNP	C	TCGA-FE-A23A-01A-11D-A17V-08		100668067	54602493	10	8435											
ARHGAP4	393	broad.mit.edu	37	chrX	153186831	153186831	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcctcaccttcttgaccaggCgccccacgtcctctgcaatg	8	18	3	1	rs200952700		TCGA-FE-A23A-01A-11D-A17V-08	TCGA-FE-A23A-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60711e67-e8c1-470a-8e9e-1b87e0499e61	7ead3f16-6be4-4546-872e-6af784e1258c	g.chrX:153186831C>G	ENST00000350060.5	-	3	463	c.422G>C	c.(421-423)cGc>cCc	p.R141P	ARHGAP4_ENST00000537206.1_Missense_Mutation_p.R118P|ARHGAP4_ENST00000370028.3_Missense_Mutation_p.R141P|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.R141P|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.R141P	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	141					apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTGACCAGGCGCCCCACGTC	0.682																																						ENST00000370028.3																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14						c.(421-423)cGc>cCc		Rho GTPase activating protein 4							22	18	19					X																	153186831		2075	4058	6133	SO:0001583	missense	393				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chrX:153186831C>G	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"Rho GTPase activating proteins"	674	protein-coding gene	gene with protein product	"Rho-GAP hematopoietic protein C1"	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.422G>C	X.37:g.153186831C>G	ENSP00000203786:p.Arg141Pro					ARHGAP4_ENST00000537206.1_Missense_Mutation_p.R118P|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.R141P|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.R141P|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.R141P	p.R141P	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN			3	479	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		141					Q14144|Q86UY3	Missense_Mutation	SNP	ENST00000350060.5	37	c.422G>C	CCDS14736.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.332667	0.60853	.	.	ENSG00000089820	ENST00000393721;ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206;ENST00000442262;ENST00000422091	T;T;T;T;T;T;T	0.48522	2.37;0.81;0.81;0.81;0.81;0.81;0.81	4.8	4.8	0.61643	.	0.000000	0.46758	D	0.000277	T	0.70430	0.3223	M	0.82823	2.61	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68192	0.956;0.956	T	0.76408	-0.2970	10	0.87932	D	0	.	16.3887	0.83524	0.0:1.0:0.0:0.0	.	141;141	Q86UY3;P98171	.;RHG04_HUMAN	P	141;141;141;141;118;118;118	ENSP00000377322:R141P;ENSP00000359045:R141P;ENSP00000203786:R141P;ENSP00000359033:R141P;ENSP00000444169:R118P;ENSP00000398259:R118P;ENSP00000413782:R118P	ENSP00000203786:R141P	R	-	2	0	ARHGAP4	152840025	1.000000	0.71417	0.945000	0.38365	0.103000	0.19146	4.510000	0.60455	2.326000	0.78906	0.529000	0.55759	CGC		0.682	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		6	37	0	0	0	0.001984	0	6	37					G	153186831	C	G	153186831	3	3	412	1	0	0	0	0	1	0	0	0	885	768	27	4	2622	4	ARHGAP4	23	153186831	Missense_Mutation	SNP	C	TCGA-FE-A23A-01A-11D-A17V-08	52518764	153186831	2083729	11	8436											
IGSF3	3321	broad.mit.edu	37	chr1	117142736	117142736	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctggactcagccttctcgAtggcagttcgggttcggaag	14	10	2	0	rs138851517	byFrequency	TCGA-FE-A3PA-01A-12D-A21Z-08	TCGA-FE-A3PA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150d0a9b-2e2e-4fd3-9516-c383f3483fa4	600db5b7-202a-483f-af4d-6c56be23c265	g.chr1:117142736A>G	ENST00000369486.3	-	7	2621	c.1856T>C	c.(1855-1857)aTc>aCc	p.I619T	IGSF3_ENST00000369483.1_Missense_Mutation_p.I639T|IGSF3_ENST00000318837.6_Missense_Mutation_p.I639T	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	619	Ig-like C2-type 5.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGCCTTCTCGATGGCAGTTCG	0.627													A|||	10	0.00199681	0.0023	0.0029	5008	,	,		16651	0.001		0.001	False		,,,				2504	0.0031					ENST00000369486.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62						c.(1855-1857)aTc>aCc		immunoglobulin superfamily, member 3																																				SO:0001583	missense	3321					integral to membrane		g.chr1:117142736A>G	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1856T>C	1.37:g.117142736A>G	ENSP00000358498:p.Ile619Thr					IGSF3_ENST00000369483.1_Missense_Mutation_p.I639T|IGSF3_ENST00000318837.6_Missense_Mutation_p.I639T	p.I619T	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	7	2621	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	619			Ig-like C2-type 5.		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	c.1856T>C	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	A	16.34	3.096884	0.56075	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.15256	2.44;2.44;2.44	4.8	4.8	0.61643	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.132915	0.52532	D	0.000079	T	0.06096	0.0158	N	0.19112	0.55	0.48571	D	0.999675	B;B;B	0.30914	0.162;0.3;0.195	B;B;B	0.33454	0.069;0.164;0.114	T	0.16837	-1.0389	10	0.51188	T	0.08	-37.2914	12.3358	0.55067	1.0:0.0:0.0:0.0	.	639;619;639	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	T	619;639;639	ENSP00000358498:I619T;ENSP00000358495:I639T;ENSP00000321184:I639T	ENSP00000321184:I639T	I	-	2	0	IGSF3	116944259	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.960000	0.76036	2.001000	0.58596	0.374000	0.22700	ATC		0.627	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		4	75	0	0	0	1	0	4	75					G	117142736	A	G	117142736	3	3	413	1	0	0	0	0	1	0	0	0	7601	333	12	3	1748	3	IGSF3	1	117142736	Missense_Mutation	SNP	A	TCGA-FE-A3PA-01A-12D-A21Z-08		117142736	132107885	1	8437											
MAML3	55534	broad.mit.edu	37	chr4	140810639	140810641	+	In_Frame_Del	DEL	GCT	GCT	-													ctggagctgtggaggtggcgGctgctgctgctgctgctgct					rs372496848		TCGA-FE-A3PA-01A-12D-A21Z-08	TCGA-FE-A3PA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150d0a9b-2e2e-4fd3-9516-c383f3483fa4	600db5b7-202a-483f-af4d-6c56be23c265	g.chr4:140810639_140810641delGCT	ENST00000509479.2	-	2	2805_2807	c.1949_1951delAGC	c.(1948-1953)cagccg>ccg	p.Q650del	MAML3_ENST00000398940.1_In_Frame_Del_p.Q178del|MAML3_ENST00000327122.5_In_Frame_Del_p.Q494del	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GGAGGTGGCGgctgctgctgctg	0.586																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1948-1953)ccg>c		mastermind-like 3 (Drosophila)																																				SO:0001651	inframe_deletion	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140810639_140810641delGCT	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1949_1951delAGC	4.37:g.140810648_140810650delGCT	ENSP00000421180:p.Gln650del					MAML3_ENST00000398940.1_In_Frame_Del_p.QP178del|MAML3_ENST00000327122.5_In_Frame_Del_p.QP494del	p.QP650del	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2805_2807	-	all_hematologic(180;0.162)		646			Gln-rich.			In_Frame_Del	DEL	ENST00000509479.2	37	c.1949_1951delAGC	CCDS54805.1																																																																																				0.586	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			9	168						9	168	---	---	---	---	-	140810641	GCT	-	140810639	7	5	413	1	0	1	0	1	0	0	0	0	9207	1203	42	0	1481	0	MAML3	4	140810639	In_Frame_Del	DEL	GCT	TCGA-FE-A3PA-01A-12D-A21Z-08		140810639	50343637	2	8438											
PCDHB11	56125	broad.mit.edu	37	chr5	140580279	140580279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacctctggattttgaaaCgattgagtcatactcaataa	7	8	3	2			TCGA-FE-A3PA-01A-12D-A21Z-08	TCGA-FE-A3PA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150d0a9b-2e2e-4fd3-9516-c383f3483fa4	600db5b7-202a-483f-af4d-6c56be23c265	g.chr5:140580279C>T	ENST00000354757.3	+	1	932	c.932C>T	c.(931-933)aCg>aTg	p.T311M	PCDHB11_ENST00000536699.1_5'UTR	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	311	Cadherin 3. {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(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATTTTGAAACGATTGAGTCA	0.363																																						ENST00000354757.3																			0				NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63						c.(931-933)aCg>aTg									64	69	67					5																	140580279		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140580279C>T	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"Cadherins / Protocadherins : Clustered"	8682	other	protocadherin	"cadherin ME2"	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.932C>T	5.37:g.140580279C>T	ENSP00000346802:p.Thr311Met					PCDHB11_ENST00000536699.1_5'UTR	p.T311M	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	932	+			311			Cadherin 3.		B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	c.932C>T	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	C	5.346	0.249198	0.10130	.	.	ENSG00000197479	ENST00000354757;ENST00000536825	T	0.01838	4.61	2.7	-0.671	0.11381	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.02888	0.0086	L	0.47078	1.49	0.09310	N	0.999999	B	0.32862	0.387	B	0.38500	0.275	T	0.42548	-0.9445	9	0.52906	T	0.07	.	4.3208	0.11016	0.557:0.2257:0.0:0.2173	.	311	Q9Y5F2	PCDBB_HUMAN	M	311;1	ENSP00000346802:T311M	ENSP00000346802:T311M	T	+	2	0	PCDHB11	140560463	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.731000	0.00805	-0.354000	0.08212	0.467000	0.42956	ACG		0.363	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		75	118	0	0	0	1	0	75	118					T	140580279	C	T	140580279	3	4	413	1	0	0	0	0	1	0	0	0	11536	536	19	1	934	1	PCDHB11	5	140580279	Missense_Mutation	SNP	C	TCGA-FE-A3PA-01A-12D-A21Z-08		140580279	40334981	3	8439											
LMTK2	22853	broad.mit.edu	37	chr7	97736519	97736521	+	In_Frame_Del	DEL	GCT	GCT	-													ccgccggcgttgcggcggagGctgctgctgctgctgctggt					rs548021046	byFrequency	TCGA-FE-A3PA-01A-12D-A21Z-08	TCGA-FE-A3PA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150d0a9b-2e2e-4fd3-9516-c383f3483fa4	600db5b7-202a-483f-af4d-6c56be23c265	g.chr7:97736519_97736521delGCT	ENST00000297293.5	+	1	323_325	c.30_32delGCT	c.(28-33)aggctg>agg	p.L16del		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	16					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TGCGGCGGAGGCTGCTGCTGCTG	0.764																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(28-33)agg>ag		lemur tyrosine kinase 2				31,1377		8,15,681						-3.5	0.1		dbSNP_134	2	92,3378		12,68,1655	no	coding	LMTK2	NM_014916.3		20,83,2336	A1A1,A1R,RR		2.6513,2.2017,2.5215				123,4755				SO:0001651	inframe_deletion	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97736519_97736521delGCT	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.30_32delGCT	7.37:g.97736528_97736530delGCT	ENSP00000297293:p.Leu16del						p.RL10del	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			1	323_325	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		10					A4D272|Q75MG7|Q9UPS3	In_Frame_Del	DEL	ENST00000297293.5	37	c.30_32delGCT	CCDS5654.1																																																																																				0.764	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		3	5						3	5	---	---	---	---	-	97736521	GCT	-	97736519	7	5	413	1	0	1	0	1	0	0	0	0	8859	1194	42	0	32	0	LMTK2	7	97736519	In_Frame_Del	DEL	GCT	TCGA-FE-A3PA-01A-12D-A21Z-08		97736519	61402144	4	8440											
CUL2	8453	broad.mit.edu	37	chr10	35320510	35320510	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattctctgtcatccctttcGctgacttcttcagtaagttg	6	12	4	1	rs190367917		TCGA-FE-A3PA-01A-12D-A21Z-08	TCGA-FE-A3PA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150d0a9b-2e2e-4fd3-9516-c383f3483fa4	600db5b7-202a-483f-af4d-6c56be23c265	g.chr10:35320510G>A	ENST00000374748.1	-	14	1521	c.1208C>T	c.(1207-1209)gCg>gTg	p.A403V	CUL2_ENST00000374742.1_Missense_Mutation_p.A403V|CUL2_ENST00000602371.1_Missense_Mutation_p.A346V|CUL2_ENST00000537177.1_Missense_Mutation_p.A422V|CUL2_ENST00000374749.3_Missense_Mutation_p.A403V|CUL2_ENST00000374746.1_Missense_Mutation_p.A403V|CUL2_ENST00000374751.3_Missense_Mutation_p.A403V			Q13617	CUL2_HUMAN	cullin 2	403					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						CATCCCTTTCGCTGACTTCTT	0.398													G|||	1	0.000199681	8e-04	0	5008	,	,		19965	0		0	False		,,,				2504	0					ENST00000374748.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						c.(1207-1209)gCg>gTg		cullin 2		G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	173	144	154		1208,1265,1247,1208	5.9	1.0	10		154	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	CUL2	NM_001198777.1,NM_001198778.1,NM_001198779.1,NM_003591.3	64,64,64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	403/746,422/765,416/759,403/746	35320510	1,13005	2203	4300	6503	SO:0001583	missense	8453				cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr10:35320510G>A	U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.1208C>T	10.37:g.35320510G>A	ENSP00000363880:p.Ala403Val					CUL2_ENST00000537177.1_Missense_Mutation_p.A422V|CUL2_ENST00000374751.3_Missense_Mutation_p.A403V|CUL2_ENST00000374742.1_Missense_Mutation_p.A403V|CUL2_ENST00000374749.3_Missense_Mutation_p.A403V|CUL2_ENST00000374746.1_Missense_Mutation_p.A403V|CUL2_ENST00000602371.1_Missense_Mutation_p.A346V	p.A403V			Q13617	CUL2_HUMAN			14	1521	-			403					B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	SNP	ENST00000374748.1	37	c.1208C>T	CCDS7179.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	27.9	4.872645	0.91587	0.0	1.16E-4	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177	T;T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8;-0.8	5.87	5.87	0.94306	Cullin, N-terminal (1);Cullin homology (2);	0.000000	0.85682	D	0.000000	T	0.66426	0.2788	N	0.25992	0.78	0.80722	D	1	P;P;P	0.39831	0.637;0.64;0.69	B;B;B	0.37650	0.138;0.165;0.255	T	0.65965	-0.6040	10	0.38643	T	0.18	-17.2024	20.2009	0.98259	0.0:0.0:1.0:0.0	.	403;422;403	Q5T2B5;G3V1S2;Q13617	.;.;CUL2_HUMAN	V	403;403;403;403;346;403;422	ENSP00000363883:A403V;ENSP00000363880:A403V;ENSP00000363878:A403V;ENSP00000363881:A403V;ENSP00000363874:A403V;ENSP00000444856:A422V	ENSP00000363874:A403V	A	-	2	0	CUL2	35360516	1.000000	0.71417	0.974000	0.42286	0.730000	0.41778	9.864000	0.99589	2.767000	0.95098	0.591000	0.81541	GCG		0.398	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591		58	87	0	0	0	1	0	58	87					A	35320510	G	A	35320510	3	1	413	1	0	0	0	0	1	0	0	0	4055	1087	38	1	1065	1	CUL2	10	35320510	Missense_Mutation	SNP	G	TCGA-FE-A3PA-01A-12D-A21Z-08		35320510	100214237	5	8441											
MEN1	4221	broad.mit.edu	37	chr11	64572151	64572151	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccttgtccagtgctggcttCttgggcggcgggggctcctc	15	14	1	0			TCGA-FE-A3PA-01A-12D-A21Z-08	TCGA-FE-A3PA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150d0a9b-2e2e-4fd3-9516-c383f3483fa4	600db5b7-202a-483f-af4d-6c56be23c265	g.chr11:64572151C>T	ENST00000337652.1	-	10	2006	c.1503G>A	c.(1501-1503)aaG>aaA	p.K501K	MEN1_ENST00000377316.2_Silent_p.K441K|MEN1_ENST00000443283.1_Silent_p.K501K|MEN1_ENST00000394376.1_Silent_p.K501K|MAP4K2_ENST00000468062.1_5'Flank|MAP4K2_ENST00000294066.2_5'Flank|MEN1_ENST00000394374.2_Silent_p.K501K|MEN1_ENST00000315422.4_Silent_p.K496K|MEN1_ENST00000377313.1_Silent_p.K501K|MEN1_ENST00000377321.1_Silent_p.K461K|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377326.3_Silent_p.K496K|MAP4K2_ENST00000377350.3_5'Flank|MEN1_ENST00000312049.6_Silent_p.K496K	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	501					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|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 activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						GTGCTGGCTTCTTGGGCGGCG	0.756			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	ENST00000337652.1			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	"D, Mis, N, F, S"	multiple endocrine neoplasia type 1 gene			E		"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"	"parathyroid tumors, Pancreatic neuroendocrine tumors"		0				NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						c.(1501-1503)aaG>aaA		multiple endocrine neoplasia I							6	7	7					11																	64572151		2063	4079	6142	SO:0001819	synonymous_variant	0	Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64572151C>T	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"menin"	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.1503G>A	11.37:g.64572151C>T						MEN1_ENST00000443283.1_Silent_p.K501K|MEN1_ENST00000377313.1_Silent_p.K501K|MEN1_ENST00000377326.3_Silent_p.K496K|MEN1_ENST00000315422.4_Silent_p.K496K|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377321.1_Silent_p.K461K|MEN1_ENST00000394374.2_Silent_p.K501K|MEN1_ENST00000377316.2_Silent_p.K441K|MEN1_ENST00000312049.6_Silent_p.K496K|MEN1_ENST00000394376.1_Silent_p.K501K	p.K501K	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN			10	2006	-			501					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	ENST00000337652.1	37	c.1503G>A	CCDS8083.1																																																																																				0.756	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			4	39	0	0	0	1	0	4	39					T	64572151	C	T	64572151	2	4	413	1	0	0	0	0	0	0	0	1	9472	912	32	2		2	MEN1	11	64572151	Silent	SNP	C	TCGA-FE-A3PA-01A-12D-A21Z-08		64572151	70434365	6	8442											
TNFRSF1A	7132	broad.mit.edu	37	chr12	6438738	6438738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcacgaattccttccagcGcaacgggggcacgttctcca	10	16	1	0			TCGA-FE-A3PA-01A-12D-A21Z-08	TCGA-FE-A3PA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150d0a9b-2e2e-4fd3-9516-c383f3483fa4	600db5b7-202a-483f-af4d-6c56be23c265	g.chr12:6438738G>A	ENST00000162749.2	-	10	1407	c.1108C>T	c.(1108-1110)Cgc>Tgc	p.R370C	TNFRSF1A_ENST00000437813.3_5'Flank|TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.R327C	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	370	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						TCCTTCCAGCGCAACGGGGGC	0.706																																						ENST00000162749.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						c.(1108-1110)Cgc>Tgc		tumor necrosis factor receptor superfamily, member 1A							16	17	17					12																	6438738		2201	4296	6497	SO:0001583	missense	7132				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity	g.chr12:6438738G>A	M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"Tumor necrosis factor receptor superfamily", "CD molecules"	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.1108C>T	12.37:g.6438738G>A	ENSP00000162749:p.Arg370Cys					TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.R327C	p.R370C	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN			10	1407	-			370			Death.		A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Missense_Mutation	SNP	ENST00000162749.2	37	c.1108C>T	CCDS8542.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799479	0.90538	.	.	ENSG00000067182	ENST00000162749;ENST00000540022	D;D	0.85629	-2.01;-2.01	4.88	4.88	0.63580	Death (3);DEATH-like (2);	0.358613	0.29737	N	0.011333	D	0.90393	0.6993	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91348	0.5102	10	0.87932	D	0	-40.5466	15.8802	0.79197	0.0:0.0:1.0:0.0	.	327;370	F5H061;P19438	.;TNR1A_HUMAN	C	370;327	ENSP00000162749:R370C;ENSP00000438343:R327C	ENSP00000162749:R370C	R	-	1	0	TNFRSF1A	6308999	1.000000	0.71417	0.943000	0.38184	0.956000	0.61745	5.989000	0.70587	2.406000	0.81754	0.561000	0.74099	CGC		0.706	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399038.1	NM_001065		3	37	0	0	0	1	0	3	37					A	6438738	G	A	6438738	3	1	413	1	0	0	0	0	1	0	0	0	16290	1087	38	1	263	1	TNFRSF1A	12	6438738	Missense_Mutation	SNP	G	TCGA-FE-A3PA-01A-12D-A21Z-08		6438738	127413157	7	8443											
PCDHGB3	56102	broad.mit.edu	37	chr5	140750149	140750149	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcgtgggggatttacctaCtaggaacctgcgggttattg	15	7	0	0			TCGA-FE-A3PB-01A-11D-A21Z-08	TCGA-FE-A3PB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7c8abdf-02bc-455f-9e43-f49227b349b2	60e3b235-1934-460a-b420-b02c1f4a3acd	g.chr5:140750149C>T	ENST00000576222.1	+	1	319	c.188C>T	c.(187-189)aCt>aTt	p.T63I	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	63	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)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATTTACCTACTAGGAACCTG	0.547																																						ENST00000576222.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(187-189)aCt>aTt									107	115	112					5																	140750149		1845	4101	5946	SO:0001583	missense	0							g.chr5:140750149C>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.188C>T	5.37:g.140750149C>T	ENSP00000461862:p.Thr63Ile					PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.T63I	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	319	+								A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.188C>T	CCDS58980.1																																																																																				0.547	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		49	130	0	0	0	1	0	49	130					T	140750149	C	T	140750149	3	4	414	1	0	0	0	0	1	0	0	0	11564	565	20	2	190	2	PCDHGB3	5	140750149	Missense_Mutation	SNP	C	TCGA-FE-A3PB-01A-11D-A21Z-08		140750149	40165111	1	8444											
PKHD1	5314	broad.mit.edu	37	chr6	51900392	51900392	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaggaatccacttaccctGggtggaactttgcactgaat	10	9	0	1			TCGA-FE-A3PB-01A-11D-A21Z-08	TCGA-FE-A3PB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7c8abdf-02bc-455f-9e43-f49227b349b2	60e3b235-1934-460a-b420-b02c1f4a3acd	g.chr6:51900392G>A	ENST00000371117.3	-	28	3500	c.3225C>T	c.(3223-3225)ccC>ccT	p.P1075P	PKHD1_ENST00000340994.4_Silent_p.P1075P	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1075	IPT/TIG 5.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CACTTACCCTGGGTGGAACTT	0.393																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(3223-3225)ccC>ccT		polycystic kidney and hepatic disease 1 (autosomal recessive)							139	126	130					6																	51900392		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51900392G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3225C>T	6.37:g.51900392G>A						PKHD1_ENST00000340994.4_Silent_p.P1075P	p.P1075P	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			28	3500	-	Lung NSC(77;0.0605)		1075			IPT/TIG 5.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.3225C>T	CCDS4935.1																																																																																				0.393	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		4	138	0	0	0	1	0	4	138					A	51900392	G	A	51900392	2	1	414	1	0	0	0	0	0	0	0	1	11971	1335	47	2		2	PKHD1	6	51900392	Silent	SNP	G	TCGA-FE-A3PB-01A-11D-A21Z-08		51900392	119214675	2	8445											
PRDM13	59336	broad.mit.edu	37	chr6	100061166	100061166	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccctgggcccgccaccagttCaggcctgcggtgcgcgggag	16	16	1	0			TCGA-FE-A3PB-01A-11D-A21Z-08	TCGA-FE-A3PB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7c8abdf-02bc-455f-9e43-f49227b349b2	60e3b235-1934-460a-b420-b02c1f4a3acd	g.chr6:100061166C>A	ENST00000369215.4	+	4	960	c.655C>A	c.(655-657)Cag>Aag	p.Q219K		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	219					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		GCCACCAGTTCAGGCCTGCGG	0.711																																						ENST00000369214.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17						c.(685-687)Cag>Aag		PR domain containing 13							5	7	7					6																	100061166		1808	3974	5782	SO:0001583	missense	59336				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:100061166C>A	AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.655C>A	6.37:g.100061166C>A	ENSP00000358217:p.Gln219Lys					PRDM13_ENST00000369215.4_Missense_Mutation_p.Q219K	p.Q229K	NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0598)	4	946	+		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	219					Q5TGC1|Q5TGC2	Missense_Mutation	SNP	ENST00000369215.4	37	c.685C>A	CCDS43487.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.854284	0.32791	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	T;T	0.05258	3.47;3.49	5.4	4.51	0.55191	.	0.190062	0.25836	N	0.027983	T	0.01454	0.0047	L	0.27053	0.805	0.22701	N	0.99884	B	0.26672	0.156	B	0.19666	0.026	T	0.43491	-0.9388	10	0.07813	T	0.8	-12.6114	15.6095	0.76704	0.0:0.8618:0.1382:0.0	.	219	Q9H4Q3	PRD13_HUMAN	K	219;229	ENSP00000358217:Q219K;ENSP00000358216:Q229K	ENSP00000358216:Q229K	Q	+	1	0	PRDM13	100167887	0.206000	0.23470	0.101000	0.21167	0.467000	0.32768	1.975000	0.40569	1.236000	0.43740	0.563000	0.77884	CAG		0.711	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2			2	2	1	0	0.0784	1	0.0784	2	2					A	100061166	C	A	100061166	3	1	414	1	0	0	0	0	1	0	0	0	12454	827	29	4	669	4	PRDM13	6	100061166	Missense_Mutation	SNP	C	TCGA-FE-A3PB-01A-11D-A21Z-08	48160774	100061166	71053901	3	8446											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FE-A3PB-01A-11D-A21Z-08	TCGA-FE-A3PB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7c8abdf-02bc-455f-9e43-f49227b349b2	60e3b235-1934-460a-b420-b02c1f4a3acd	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		22	53	0	0	0	1	0	22	53					T	140453136	A	T	140453136	3	4	414	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FE-A3PB-01A-11D-A21Z-08		140453136	18685527	4	8447											
LMX1B	4010	broad.mit.edu	37	chr9	129456049	129456051	+	In_Frame_Del	DEL	CAG	CAG	-													agaagctggcgcggcggcacCagcagcagcaggagcagcag							TCGA-FE-A3PB-01A-11D-A21Z-08	TCGA-FE-A3PB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7c8abdf-02bc-455f-9e43-f49227b349b2	60e3b235-1934-460a-b420-b02c1f4a3acd	g.chr9:129456049_129456051delCAG	ENST00000373474.4	+	6	851_853	c.844_846delCAG	c.(844-846)cagdel	p.Q285del	LMX1B_ENST00000561065.1_In_Frame_Del_p.Q262del|LMX1B_ENST00000355497.5_In_Frame_Del_p.Q285del|LMX1B_ENST00000425646.2_In_Frame_Del_p.Q262del|LMX1B_ENST00000526117.1_In_Frame_Del_p.Q285del			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	285	Poly-Gln.				cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						GCGGCGGCACCAGCAGCAGCAGG	0.754									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)	ENST00000355497.5																			0				endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						c.(844-846)del		LIM homeobox transcription factor 1, beta																																				SO:0001651	inframe_deletion	4010	Nail-Patella Syndrome	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:129456049_129456051delCAG	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"Homeoboxes / LIM class"	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.844_846delCAG	9.37:g.129456058_129456060delCAG	ENSP00000362573:p.Gln285del					LMX1B_ENST00000526117.1_In_Frame_Del_p.Q285del|LMX1B_ENST00000373474.4_In_Frame_Del_p.Q285del|LMX1B_ENST00000425646.2_In_Frame_Del_p.Q262del|LMX1B_ENST00000561065.1_In_Frame_Del_p.Q262del	p.Q285del	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN			6	851_853	+			262					F8W7W6|O75463|Q5JU95|Q6ISC9	In_Frame_Del	DEL	ENST00000373474.4	37	c.844_846delCAG	CCDS55342.1																																																																																				0.754	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2			2	4						2	4	---	---	---	---	-	129456051	CAG	-	129456049	7	5	414	1	0	1	0	1	0	0	0	0	8862	595	21	0	866	0	LMX1B	9	129456049	In_Frame_Del	DEL	CAG	TCGA-FE-A3PB-01A-11D-A21Z-08		129456049	11757382	5	8448											
TAS2R7	50837	broad.mit.edu	37	chr12	10954956	10954956	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtggcatagacatctggatAtagcaccaatataaaacaat	7	7	1	1			TCGA-FE-A3PB-01A-11D-A21Z-08	TCGA-FE-A3PB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7c8abdf-02bc-455f-9e43-f49227b349b2	60e3b235-1934-460a-b420-b02c1f4a3acd	g.chr12:10954956A>G	ENST00000240687.2	-	1	270	c.214T>C	c.(214-216)Tat>Cat	p.Y72H		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	72					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						ACATCTGGATATAGCACCAAT	0.373																																						ENST00000240687.2																			0				kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						c.(214-216)Tat>Cat		taste receptor, type 2, member 7							87	88	88					12																	10954956		2203	4300	6503	SO:0001583	missense	50837				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10954956A>G	AF227133	CCDS8631.1	12p13	2012-08-22			ENSG00000121377	ENSG00000121377		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14913	protein-coding gene	gene with protein product		604793				10761934, 10766242	Standard	NM_023919		Approved	T2R7, TRB4	uc001qyv.3	Q9NYW3	OTTHUMG00000168505	ENST00000240687.2:c.214T>C	12.37:g.10954956A>G	ENSP00000240687:p.Tyr72His						p.Y72H	NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN			1	270	-			72					Q645Y1	Missense_Mutation	SNP	ENST00000240687.2	37	c.214T>C	CCDS8631.1	.	.	.	.	.	.	.	.	.	.	A	4.963	0.178789	0.09443	.	.	ENSG00000121377	ENST00000240687	T	0.37235	1.21	5.28	2.76	0.32466	GPCR, rhodopsin-like superfamily (1);	0.315639	0.24441	N	0.038507	T	0.22589	0.0545	L	0.28014	0.82	0.20196	N	0.999922	B	0.14438	0.01	B	0.23716	0.048	T	0.16012	-1.0417	10	0.24483	T	0.36	.	7.1254	0.25469	0.7038:0.1512:0.0:0.145	.	72	Q9NYW3	TA2R7_HUMAN	H	72	ENSP00000240687:Y72H	ENSP00000240687:Y72H	Y	-	1	0	TAS2R7	10846223	0.000000	0.05858	0.278000	0.24718	0.098000	0.18820	-0.354000	0.07681	0.993000	0.38866	0.528000	0.53228	TAT		0.373	TAS2R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399931.1			28	51	0	0	0	1	0	28	51					G	10954956	A	G	10954956	3	3	414	1	0	0	0	0	1	0	0	0	15583	449	16	3	746	3	TAS2R7	12	10954956	Missense_Mutation	SNP	A	TCGA-FE-A3PB-01A-11D-A21Z-08		10954956	122896939	6	8449											
CDK12	51755	broad.mit.edu	37	chr17	37686901	37686901	+	Frame_Shift_Del	DEL	C	C	-													cagagaagaggccccctgagCcccccggacctccaccgccg							TCGA-FE-A3PB-01A-11D-A21Z-08	TCGA-FE-A3PB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7c8abdf-02bc-455f-9e43-f49227b349b2	60e3b235-1934-460a-b420-b02c1f4a3acd	g.chr17:37686901delC	ENST00000447079.4	+	14	3838	c.3805delC	c.(3805-3807)cccfs	p.P1270fs	CDK12_ENST00000430627.2_Frame_Shift_Del_p.P1261fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1270	Poly-Pro.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GCCCCCTGAGCCCCCCGGACC	0.562			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"Mis, N, F"	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(3805-3807)ccfs		cyclin-dependent kinase 12							86	114	105					17																	37686901		2197	4293	6490	SO:0001589	frameshift_variant	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37686901delC	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.3805delC	17.37:g.37686901delC	ENSP00000398880:p.Pro1270fs	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Frame_Shift_Del_p.P1261fs	p.P1270fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			14	3838	+			1270			Poly-Pro.		A7E2B2|B4DYX4|B9EIQ6|O94978	Frame_Shift_Del	DEL	ENST00000447079.4	37	c.3805delC	CCDS11337.1																																																																																				0.562	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		9	401						9	401	---	---	---	---	-	37686901	C	-	37686901	7	5	414	1	0	1	0	1	0	0	0	0	3128	739	26	0	3859	0	CDK12	17	37686901	Frame_Shift_Del	DEL	C	TCGA-FE-A3PB-01A-11D-A21Z-08		37686901	43508309	7	8450											
WDR8	49856	broad.mit.edu	37	chr1	3552584	3552584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgagatcctgggtgtccGtatcaaaatgcttccaaagg	11	9	1	1			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr1:3552584G>A	ENST00000270708.7	-	6	600	c.527C>T	c.(526-528)aCg>aTg	p.T176M	WRAP73_ENST00000378322.3_Missense_Mutation_p.T176M	NM_017818.3	NP_060288.3	Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	176						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						CTGGGTGTCCGTATCAAAATG	0.443																																						ENST00000378322.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						c.(526-528)aCg>aTg		WD repeat containing, antisense to TP73							78	71	74					1																	3552584		2203	4300	6503	SO:0001583	missense	49856					centrosome	protein binding	g.chr1:3552584G>A	AB034912, EF494669	CCDS48.1	1p36.3	2013-05-21	2011-04-13	2011-04-13	ENSG00000116213	ENSG00000116213		"WD repeat domain containing"	12759	protein-coding gene	gene with protein product		606040	"WD repeat domain 8"	WDR8			Standard	NM_017818		Approved		uc001ako.3	Q9P2S5	OTTHUMG00000000612	ENST00000270708.7:c.527C>T	1.37:g.3552584G>A	ENSP00000270708:p.Thr176Met					WRAP73_ENST00000270708.7_Missense_Mutation_p.T176M	p.T176M			Q9P2S5	WRP73_HUMAN			6	585	-			176					Q5T0D6|Q9BUH7|Q9NTK7|Q9NX56	Missense_Mutation	SNP	ENST00000270708.7	37	c.527C>T	CCDS48.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617285	0.46736	.	.	ENSG00000116213	ENST00000270708;ENST00000378322;ENST00000424367	T;T;T	0.05855	3.39;3.38;3.39	5.4	5.4	0.78164	Six-bladed beta-propeller, TolB-like (1);	0.091342	0.85682	D	0.000000	T	0.18383	0.0441	L	0.46157	1.445	0.58432	D	0.99999	D;D	0.76494	0.998;0.999	P;P	0.62382	0.8;0.901	T	0.00121	-1.2028	10	0.54805	T	0.06	-20.8637	18.1341	0.89612	0.0:0.0:1.0:0.0	.	176;176	Q9P2S5;Q5T0D5	WRP73_HUMAN;.	M	176	ENSP00000270708:T176M;ENSP00000367573:T176M;ENSP00000416192:T176M	ENSP00000270708:T176M	T	-	2	0	WRAP73	3542444	1.000000	0.71417	0.432000	0.26747	0.982000	0.71751	6.354000	0.73036	2.515000	0.84797	0.655000	0.94253	ACG		0.443	WRAP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001470.1			3	78	0	0	0	1	0	3	78					A	3552584	G	A	3552584	3	1	415	1	0	0	0	0	1	0	0	0	17326	1145	40	1	883	1	WDR8	1	3552584	Missense_Mutation	SNP	G	TCGA-FE-A3PC-01A-11D-A21Z-08		3552584	245698037	1	8451											
PPP1R8	5511	broad.mit.edu	37	chr1	28176693	28176693	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttcagcggaggactctaCgggggcctgccccccacaca	12	17	2	0			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr1:28176693C>T	ENST00000311772.5	+	7	850	c.792C>T	c.(790-792)taC>taT	p.Y264Y	PPP1R8_ENST00000373931.4_Silent_p.Y122Y|PPP1R8_ENST00000486634.1_3'UTR|PPP1R8_ENST00000236412.7_Silent_p.Y40Y	NM_014110.4	NP_054829.2	Q12972	PP1R8_HUMAN	protein phosphatase 1, regulatory subunit 8	264					cell proliferation (GO:0008283)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|protein phosphatase type 1 regulator activity (GO:0008599)|protein serine/threonine phosphatase inhibitor activity (GO:0004865)|ribonuclease E activity (GO:0008995)|RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGACTCTACGGGGGCCTGC	0.617																																						ENST00000373931.4																			0				breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8						c.(364-366)taC>taT		protein phosphatase 1, regulatory subunit 8							106	115	112					1																	28176693		2203	4300	6503	SO:0001819	synonymous_variant	5511				mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|RNA splicing|transcription, DNA-dependent	cytoplasm|nuclear speck|spliceosomal complex	DNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity|RNA binding	g.chr1:28176693C>T	AF061959	CCDS311.1, CCDS312.1, CCDS313.1	1p35.3	2012-04-17	2011-10-04		ENSG00000117751	ENSG00000117751		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9296	protein-coding gene	gene with protein product	"RNase E", "nuclear subunit of PP-1", "nuclear inhibitor of protein phosphatase-1", "activator of RNA decay", "protein phosphatase 1 regulatory subunit 8"	602636	"protein phosphatase 1, regulatory (inhibitor) subunit 8"			7524097, 8473324	Standard	NM_014110		Approved	ard-1, NIPP-1, PRO2047, ARD1, NIPP1	uc001bov.2	Q12972	OTTHUMG00000003734	ENST00000311772.5:c.792C>T	1.37:g.28176693C>T						PPP1R8_ENST00000311772.5_Silent_p.Y264Y|PPP1R8_ENST00000236412.7_Silent_p.Y40Y|PPP1R8_ENST00000486634.1_3'UTR	p.Y122Y	NM_138558.2	NP_612568.1	Q12972	PP1R8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)	7	1161	+		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	264			Interaction with CDC5L, SF3B1 and MELK.		Q5TEJ2|Q5TEJ4|Q5TIF2|Q6PKF6|Q9UBH1|Q9UBZ0	Silent	SNP	ENST00000311772.5	37	c.366C>T	CCDS311.1																																																																																				0.617	PPP1R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010528.1	NM_014110		19	180	0	0	0	1	0	19	180					T	28176693	C	T	28176693	2	4	415	1	0	0	0	0	0	0	0	1	12377	547	19	1		1	PPP1R8	1	28176693	Silent	SNP	C	TCGA-FE-A3PC-01A-11D-A21Z-08	24624109	28176693	221073928	2	8452											
FNBP1L	54874	broad.mit.edu	37	chr1	93965084	93965084	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgacttcttggaaagataTgccaaatttgttaaagagag	9	4	1	3			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr1:93965084T>C	ENST00000271234.7	+	2	235	c.84T>C	c.(82-84)taT>taC	p.Y28Y	FNBP1L_ENST00000370256.4_Silent_p.Y28Y|FNBP1L_ENST00000370253.2_Silent_p.Y28Y|FNBP1L_ENST00000260506.8_Silent_p.Y28Y|FNBP1L_ENST00000604705.1_Silent_p.Y28Y	NM_001164473.2	NP_001157945.1	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	28	F-BAR domain. {ECO:0000250}.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				autophagy (GO:0006914)|clathrin-mediated endocytosis (GO:0072583)|membrane budding (GO:0006900)|membrane invagination (GO:0010324)|membrane tubulation (GO:0097320)|positive regulation of filopodium assembly (GO:0051491)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		TGGAAAGATATGCCAAATTTG	0.308																																						ENST00000260506.8																			0				breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11						c.(82-84)taT>taC		formin binding protein 1-like							50	49	50					1																	93965084		1818	4085	5903	SO:0001819	synonymous_variant	54874				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding	g.chr1:93965084T>C		CCDS53343.1, CCDS53344.1, CCDS60192.1	1p22.1	2008-02-05	2004-11-16	2004-11-17	ENSG00000137942	ENSG00000137942			20851	protein-coding gene	gene with protein product		608848	"chromosome 1 open reading frame 39"	C1orf39		14654988	Standard	NM_017737		Approved	TOCA1, FLJ20275	uc010otk.2	Q5T0N5	OTTHUMG00000010863	ENST00000271234.7:c.84T>C	1.37:g.93965084T>C						FNBP1L_ENST00000370256.4_Silent_p.Y28Y|FNBP1L_ENST00000604705.1_Silent_p.Y28Y|FNBP1L_ENST00000271234.7_Silent_p.Y28Y|FNBP1L_ENST00000370253.2_Silent_p.Y28Y	p.Y28Y	NM_001024948.2|NM_017737.4	NP_001020119.1|NP_060207.2	Q5T0N5	FBP1L_HUMAN		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)	2	235	+		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)	28			FCH.|Induction of membrane tubulation (By similarity).		J3QSS4|Q5T0N6|Q6B097|Q6P653|Q6R4Q4|Q9NXG1	Silent	SNP	ENST00000271234.7	37	c.84T>C	CCDS53343.1																																																																																				0.308	FNBP1L-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_017737		5	21	0	0	0	1	0	5	21					C	93965084	T	C	93965084	2	2	415	1	0	0	0	0	0	0	0	1	5966	1471	51	3		3	FNBP1L	1	93965084	Silent	SNP	T	TCGA-FE-A3PC-01A-11D-A21Z-08	65788391	93965084	155285537	3	8453											
NGF	4803	broad.mit.edu	37	chr1	115828959	115828959	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaccatcacctccttgcccTtgatgtctgtggcggtggtc	10	14	2	1			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr1:115828959T>C	ENST00000369512.2	-	3	626	c.458A>G	c.(457-459)aAg>aGg	p.K153R	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	153					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	CTCCTTGCCCTTGATGTCTGT	0.517																																						ENST00000369512.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(457-459)aAg>aGg		nerve growth factor (beta polypeptide)	Clenbuterol(DB01407)						144	126	133					1																	115828959		2203	4300	6503	SO:0001583	missense	4803				activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding	g.chr1:115828959T>C		CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"Endogenous ligands"	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.458A>G	1.37:g.115828959T>C	ENSP00000358525:p.Lys153Arg					RP4-663N10.1_ENST00000425449.1_RNA	p.K153R	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	3	626	-	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)	153					A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Missense_Mutation	SNP	ENST00000369512.2	37	c.458A>G	CCDS882.1	.	.	.	.	.	.	.	.	.	.	T	17.45	3.392594	0.62066	.	.	ENSG00000134259	ENST00000369512	T	0.65732	-0.17	5.02	5.02	0.67125	Nerve growth factor-related (4);	0.284918	0.39475	N	0.001358	T	0.45196	0.1330	N	0.11892	0.195	0.38560	D	0.94968	P	0.44659	0.84	P	0.55087	0.768	T	0.50074	-0.8870	10	0.27082	T	0.32	-19.5969	13.9972	0.64409	0.0:0.0:0.0:1.0	.	153	P01138	NGF_HUMAN	R	153	ENSP00000358525:K153R	ENSP00000358525:K153R	K	-	2	0	NGF	115630482	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.346000	0.52190	2.008000	0.58898	0.260000	0.18958	AAG		0.517	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	NM_002506		5	150	0	0	0	1	0	5	150					C	115828959	T	C	115828959	3	2	415	1	0	0	0	0	1	0	0	0	10395	1609	56	3	271	3	NGF	1	115828959	Missense_Mutation	SNP	T	TCGA-FE-A3PC-01A-11D-A21Z-08	21863875	115828959	133421662	4	8454											
CGN	57530	broad.mit.edu	37	chr1	151501902	151501902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggtggctgggcgacaccGggaccgggagttggagaagc	21	8	0	1			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr1:151501902G>A	ENST00000271636.7	+	11	2106	c.1973G>A	c.(1972-1974)cGg>cAg	p.R658Q	SNORA44_ENST00000517031.1_RNA	NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	652	Glu-rich.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGGCGACACCGGGACCGGGAG	0.612																																						ENST00000271636.7																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(1972-1974)cGg>cAg		cingulin							42	44	43					1																	151501902		2203	4300	6503	SO:0001583	missense	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151501902G>A	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.1973G>A	1.37:g.151501902G>A	ENSP00000271636:p.Arg658Gln						p.R658Q	NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		11	2106	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		652			Glu-rich.		A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	37	c.1973G>A	CCDS999.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.291027	0.59976	.	.	ENSG00000143375	ENST00000271636	T	0.65364	-0.15	4.43	3.49	0.39957	.	0.130180	0.49305	N	0.000148	T	0.38585	0.1046	M	0.67953	2.075	0.32653	N	0.519158	B	0.30193	0.272	B	0.15484	0.013	T	0.39333	-0.9619	10	0.46703	T	0.11	-19.8847	10.2084	0.43126	0.0958:0.0:0.9042:0.0	.	652	Q9P2M7	CING_HUMAN	Q	658	ENSP00000271636:R658Q	ENSP00000271636:R658Q	R	+	2	0	CGN	149768526	0.906000	0.30813	0.971000	0.41717	0.983000	0.72400	3.356000	0.52269	1.194000	0.43101	0.655000	0.94253	CGG		0.612	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		3	76	0	0	0	1	0	3	76					A	151501902	G	A	151501902	3	1	415	1	0	0	0	0	1	0	0	0	3303	1116	39	1	2011	1	CGN	1	151501902	Missense_Mutation	SNP	G	TCGA-FE-A3PC-01A-11D-A21Z-08	35672943	151501902	97748719	5	8455											
DAP3	7818	broad.mit.edu	37	chr1	155701824	155701824	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccccaggagttgctgggaaaGgtcaagtcaaaggaaaattt	12	7	2	0			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr1:155701824G>T	ENST00000368336.5	+	11	1117	c.993G>T	c.(991-993)aaG>aaT	p.K331N	DAP3_ENST00000421487.2_Splice_Site_p.K297N|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000471642.2_Splice_Site_p.K290N|DAP3_ENST00000535183.1_Splice_Site_p.K290N|DAP3_ENST00000343043.3_Splice_Site_p.K331N	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	331					apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TGCTGGGAAAGGTCAAGTCAA	0.388																																						ENST00000368336.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24						c.e11+1		death associated protein 3							38	38	38					1																	155701824		2203	4300	6503	SO:0001630	splice_region_variant	7818				induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding	g.chr1:155701824G>T	X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"Mitochondrial ribosomal proteins / small subunits"	2673	protein-coding gene	gene with protein product	"mitochondrial 28S ribosomal protein S29"	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.993+1G>T	1.37:g.155701824G>T						DAP3_ENST00000343043.3_Splice_Site_p.K331_splice|DAP3_ENST00000535183.1_Splice_Site_p.K290_splice|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000421487.2_Splice_Site_p.K297_splice	p.K331_splice	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN			11	1117	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		331					B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Splice_Site	SNP	ENST00000368336.5	37	c.993_splice	CCDS1120.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.010918	0.93346	.	.	ENSG00000132676	ENST00000368336;ENST00000343043;ENST00000421487;ENST00000535183	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.09	5.09	0.68999	.	0.108681	0.64402	D	0.000007	T	0.53190	0.1781	M	0.73217	2.22	0.80722	D	1	D;D;D;D	0.53745	0.962;0.962;0.962;0.962	P;P;P;P	0.56751	0.805;0.805;0.805;0.805	T	0.58031	-0.7708	10	0.87932	D	0	-15.5952	18.2993	0.90158	0.0:0.0:1.0:0.0	.	290;297;297;331	B4DP59;B4DY62;E7EM60;P51398	.;.;.;RT29_HUMAN	N	331;331;297;290	ENSP00000357320:K331N;ENSP00000341692:K331N;ENSP00000412605:K297N;ENSP00000445003:K290N	ENSP00000341692:K331N	K	+	3	2	DAP3	153968448	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.792000	0.69052	2.639000	0.89480	0.557000	0.71058	AAG		0.388	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086042.1	NM_004632	Missense_Mutation	3	29	1	0	0.00024832	1	0.000275311	3	29					T	155701824	G	T	155701824	5	4	415	1	0	0	0	0	0	0	1	0	4234	1014	35	4	1031	4	DAP3	1	155701824	Splice_Site	SNP	G	TCGA-FE-A3PC-01A-11D-A21Z-08	4199922	155701824	93548797	6	8456											
SLAMF8	56833	broad.mit.edu	37	chr1	159799959	159799959	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaggggccagccctggacccAgaccctccagctcaaggtgt	12	15	1	1			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr1:159799959A>T	ENST00000289707.5	+	2	493	c.344A>T	c.(343-345)cAg>cTg	p.Q115L	SLAMF8_ENST00000471286.1_3'UTR|SLAMF8_ENST00000368104.4_Intron	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	115					cellular response to drug (GO:0035690)|defense response to bacterium (GO:0042742)|phagosome acidification (GO:0090383)|regulation of kinase activity (GO:0043549)|regulation of NAD(P)H oxidase activity (GO:0033860)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					CCCTGGACCCAGACCCTCCAG	0.617																																						ENST00000289707.5																			0				endometrium(2)|large_intestine(4)|lung(6)	12						c.(343-345)cAg>cTg		SLAM family member 8							35	37	37					1																	159799959		2203	4300	6503	SO:0001583	missense	56833					integral to membrane		g.chr1:159799959A>T	AF146761	CCDS1188.1	1q23.1	2013-01-11			ENSG00000158714	ENSG00000158714		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21391	protein-coding gene	gene with protein product		606620				11313408	Standard	NM_020125		Approved	BLAME, SBBI42, CD353	uc001fue.4	Q9P0V8	OTTHUMG00000035433	ENST00000289707.5:c.344A>T	1.37:g.159799959A>T	ENSP00000289707:p.Gln115Leu					SLAMF8_ENST00000471286.1_3'UTR|SLAMF8_ENST00000368104.4_Intron	p.Q115L	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN			2	493	+	all_hematologic(112;0.0597)		115					Q32MC6|Q5VU15	Missense_Mutation	SNP	ENST00000289707.5	37	c.344A>T	CCDS1188.1	.	.	.	.	.	.	.	.	.	.	A	14.61	2.588277	0.46110	.	.	ENSG00000158714	ENST00000289707	T	0.20598	2.06	4.55	4.55	0.56014	.	0.483471	0.20393	N	0.093220	T	0.07548	0.0190	L	0.32530	0.975	0.80722	D	1	P	0.47409	0.895	P	0.44518	0.452	T	0.10132	-1.0643	10	0.10377	T	0.69	-12.9132	10.2113	0.43143	1.0:0.0:0.0:0.0	.	115	Q9P0V8	SLAF8_HUMAN	L	115	ENSP00000289707:Q115L	ENSP00000289707:Q115L	Q	+	2	0	SLAMF8	158066583	0.999000	0.42202	1.000000	0.80357	0.651000	0.38670	1.366000	0.34193	1.919000	0.55581	0.260000	0.18958	CAG		0.617	SLAMF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085983.1	NM_020125		19	26	0	0	0	1	0	19	26					T	159799959	A	T	159799959	3	4	415	1	0	0	0	0	1	0	0	0	14370	188	7	5	350	5	SLAMF8	1	159799959	Missense_Mutation	SNP	A	TCGA-FE-A3PC-01A-11D-A21Z-08	4098135	159799959	89450662	7	8457											
TOR1AIP2	163590	broad.mit.edu	37	chr1	179815856	179815856	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggctaaactgggccaaaaAggcctccaaagctggatttt	10	9	0	0			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr1:179815856A>G	ENST00000367612.3	-	6	1150	c.763T>C	c.(763-765)Ttt>Ctt	p.F255L	TOR1AIP2_ENST00000609928.1_Missense_Mutation_p.F255L	NM_145034.4	NP_659471.1	Q9H496	IFG15_HUMAN	torsin A interacting protein 2	115										cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						TGGGCCAAAAAGGCCTCCAAA	0.493																																						ENST00000367612.3																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						c.(763-765)Ttt>Ctt		torsin A interacting protein 2							51	59	56					1																	179815856		2203	4300	6503	SO:0001583	missense	163590					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:179815856A>G		CCDS1334.1	1q25.2	2012-02-09			ENSG00000169905	ENSG00000169905			24055	protein-coding gene	gene with protein product		614513				15767459	Standard	NM_145034		Approved	LULL1, NET9, IFRG15	uc001gnk.3	Q8NFQ8	OTTHUMG00000035265	ENST00000367612.3:c.763T>C	1.37:g.179815856A>G	ENSP00000356584:p.Phe255Leu						p.F255L	NM_001199260.1|NM_145034.4	NP_001186189.1|NP_659471.1	Q8NFQ8	TOIP2_HUMAN			6	1150	-			255					Q05BU2	Missense_Mutation	SNP	ENST00000367612.3	37	c.763T>C	CCDS1334.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.887429	0.91814	.	.	ENSG00000169905	ENST00000367612	T	0.34667	1.35	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.63896	0.2550	M	0.83012	2.62	0.53688	D	0.999974	D	0.89917	1.0	D	0.91635	0.999	T	0.70015	-0.4988	10	0.87932	D	0	-13.6454	15.2538	0.73568	1.0:0.0:0.0:0.0	.	255	Q8NFQ8	TOIP2_HUMAN	L	255	ENSP00000356584:F255L	ENSP00000356584:F255L	F	-	1	0	TOR1AIP2	178082479	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.851000	0.86920	2.084000	0.62774	0.533000	0.62120	TTT		0.493	TOR1AIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085304.1	NM_145034		3	130	0	0	0	1	0	3	130					G	179815856	A	G	179815856	3	3	415	1	0	0	0	0	1	0	0	0	16370	72	3	3	653	3	TOR1AIP2	1	179815856	Missense_Mutation	SNP	A	TCGA-FE-A3PC-01A-11D-A21Z-08	20015897	179815856	69434765	8	8458											
TROVE2	6738	broad.mit.edu	37	chr1	193038712	193038712	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatataaacagagaaatggCtggtctcacaaagatctatt	7	6	2	2			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr1:193038712C>T	ENST00000367446.3	+	2	738	c.528C>T	c.(526-528)ggC>ggT	p.G176G	TROVE2_ENST00000367443.1_Silent_p.G176G|TROVE2_ENST00000460715.2_Intron|TROVE2_ENST00000367444.3_Silent_p.G176G|TROVE2_ENST00000367441.1_Silent_p.G176G|TROVE2_ENST00000432079.1_Intron|TROVE2_ENST00000367445.3_Silent_p.G176G|TROVE2_ENST00000400968.2_Silent_p.G176G|TROVE2_ENST00000416058.2_5'UTR	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	176	RNA-binding. {ECO:0000250}.|TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						AGAGAAATGGCTGGTCTCACA	0.453																																						ENST00000367446.3																			0				biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						c.(526-528)ggC>ggT		TROVE domain family, member 2							75	73	74					1																	193038712		1897	4117	6014	SO:0001819	synonymous_variant	6738				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding	g.chr1:193038712C>T	BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.528C>T	1.37:g.193038712C>T						TROVE2_ENST00000367441.1_Silent_p.G176G|TROVE2_ENST00000460715.2_Intron|TROVE2_ENST00000367444.3_Silent_p.G176G|TROVE2_ENST00000432079.1_Intron|TROVE2_ENST00000367445.3_Silent_p.G176G|TROVE2_ENST00000367443.1_Silent_p.G176G|TROVE2_ENST00000400968.2_Silent_p.G176G|TROVE2_ENST00000416058.2_5'UTR	p.G176G	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN			2	738	+			176			TROVE.		B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Silent	SNP	ENST00000367446.3	37	c.528C>T	CCDS1379.1																																																																																				0.453	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086688.1	NM_004600		3	100	0	0	0	1	0	3	100					T	193038712	C	T	193038712	2	4	415	1	0	0	0	0	0	0	0	1	16573	784	28	2		2	TROVE2	1	193038712	Silent	SNP	C	TCGA-FE-A3PC-01A-11D-A21Z-08	13222856	193038712	56211909	9	8459											
TNNT2	7139	broad.mit.edu	37	chr1	201333480	201333480	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccggatgcgctgctgctcGgcccgctctgcccgacgtct	12	17	2	0	rs375675827		TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr1:201333480G>A	ENST00000509001.1	-	10	691	c.405C>T	c.(403-405)gcC>gcT	p.A135A	TNNT2_ENST00000460780.1_5'Flank|TNNT2_ENST00000367322.1_Silent_p.A135A|TNNT2_ENST00000421663.2_Silent_p.A137A|TNNT2_ENST00000367317.4_Silent_p.A135A|TNNT2_ENST00000360372.4_Silent_p.A130A|TNNT2_ENST00000367315.2_Silent_p.A135A|TNNT2_ENST00000458432.2_Silent_p.A147A|TNNT2_ENST00000367318.5_Silent_p.A135A|TNNT2_ENST00000367320.2_Silent_p.A105A|TNNT2_ENST00000236918.7_Silent_p.A140A	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	145					ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|positive regulation of ATPase activity (GO:0032781)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle thin filament (GO:0005865)|troponin complex (GO:0005861)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						GCTGCTGCTCGGCCCGCTCTG	0.642																																						ENST00000509001.1																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						c.(403-405)gcC>gcT		troponin T type 2 (cardiac)		G	,,,	0,4406		0,0,2203	44	39	40		435,405,405,390	-8.6	0.2	1		40	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TNNT2	NM_000364.2,NM_001001430.1,NM_001001431.1,NM_001001432.1	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	145/296,135/289,135/286,130/283	201333480	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7139				ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding	g.chr1:201333480G>A	X74819	CCDS30968.1, CCDS30969.1, CCDS60390.1, CCDS73002.1, CCDS73003.1	1q32	2014-09-17	2005-09-12		ENSG00000118194	ENSG00000118194			11949	protein-coding gene	gene with protein product		191045	"troponin T2, cardiac", "cardiomyopathy, hypertrophic 2", "cardiomyopathy, dilated 1D (autosomal dominant)"	CMH2, CMD1D		8088824, 8205619, 9482583	Standard	NM_001001430		Approved	CMPD2	uc001gwf.4	P45379	OTTHUMG00000035733	ENST00000509001.1:c.405C>T	1.37:g.201333480G>A						TNNT2_ENST00000367315.2_Silent_p.A135A|TNNT2_ENST00000236918.7_Silent_p.A140A|TNNT2_ENST00000367317.4_Silent_p.A135A|TNNT2_ENST00000367318.5_Silent_p.A135A|TNNT2_ENST00000421663.2_Silent_p.A137A|TNNT2_ENST00000367322.1_Silent_p.A135A|TNNT2_ENST00000367320.2_Silent_p.A105A|TNNT2_ENST00000360372.4_Silent_p.A130A|TNNT2_ENST00000458432.2_Silent_p.A147A	p.A135A	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN			10	691	-			145					A2TDB9|A8K3K6|O60214|Q99596|Q99597|Q9BUF6|Q9UM96	Silent	SNP	ENST00000509001.1	37	c.405C>T	CCDS30969.1																																																																																				0.642	TNNT2-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360358.1	NM_000364		3	54	0	0	0	1	0	3	54					A	201333480	G	A	201333480	2	1	415	1	0	0	0	0	0	0	0	1	16328	1103	39	1		1	TNNT2	1	201333480	Silent	SNP	G	TCGA-FE-A3PC-01A-11D-A21Z-08	8294768	201333480	47917141	10	8460											
NRXN1	9378	broad.mit.edu	37	chr2	50780088	50780088	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttaaatgccaccactccatGgatcttcatcttaggatctc	5	12	4	0			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr2:50780088G>T	ENST00000406316.2	-	9	2872	c.1396C>A	c.(1396-1398)Cat>Aat	p.H466N	NRXN1_ENST00000406859.3_Missense_Mutation_p.H466N|NRXN1_ENST00000401669.2_Missense_Mutation_p.H466N|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Missense_Mutation_p.H458N|NRXN1_ENST00000402717.3_Missense_Mutation_p.H458N|NRXN1_ENST00000404971.1_Missense_Mutation_p.H506N	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	466	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACCACTCCATGGATCTTCATC	0.413																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(1516-1518)Cat>Aat		neurexin 1							132	125	127					2																	50780088		1885	4126	6011	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50780088G>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1396C>A	2.37:g.50780088G>T	ENSP00000384311:p.His466Asn					NRXN1_ENST00000405472.3_Missense_Mutation_p.H458N|NRXN1_ENST00000406316.2_Missense_Mutation_p.H466N|NRXN1_ENST00000406859.3_Missense_Mutation_p.H466N|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Missense_Mutation_p.H458N|NRXN1_ENST00000401669.2_Missense_Mutation_p.H466N	p.H506N	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		10	2855	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	466			Laminin G-like 3.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.1516C>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.378526	0.24944	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.70631	0.22;0.18;-0.5;-0.39;-0.1;0.04	5.72	5.72	0.89469	.	0.211060	0.48767	D	0.000162	T	0.59636	0.2208	N	0.19112	0.55	0.23724	N	0.997016	B;B;B	0.14438	0.006;0.01;0.003	B;B;B	0.12156	0.007;0.005;0.005	T	0.42464	-0.9450	10	0.27785	T	0.31	.	19.877	0.96880	0.0:0.0:1.0:0.0	.	506;466;458	Q9ULB1-3;F8WB18;A7E294	.;.;.	N	506;466;458;466;507;458;466	ENSP00000385142:H506N;ENSP00000384311:H466N;ENSP00000434015:H458N;ENSP00000385017:H466N;ENSP00000385434:H458N;ENSP00000385681:H466N	ENSP00000385017:H466N	H	-	1	0	NRXN1	50633592	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.630000	0.61297	2.696000	0.92011	0.650000	0.86243	CAT		0.413	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			4	156	1	0	0.00198382	1	0.00215265	4	156					T	50780088	G	T	50780088	3	4	415	1	0	0	0	0	1	0	0	0	10665	1348	47	4	3450	4	NRXN1	2	50780088	Missense_Mutation	SNP	G	TCGA-FE-A3PC-01A-11D-A21Z-08		50780088	192419285	11	8461											
AGPS	8540	broad.mit.edu	37	chr2	178378622	178378622	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagggtgttcagtttgctccTttttctacatgcaggtaagt	10	7	2	0			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr2:178378622T>C	ENST00000264167.4	+	17	1829	c.1683T>C	c.(1681-1683)ccT>ccC	p.P561P	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	561					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			AGTTTGCTCCTTTTTCTACAT	0.303																																						ENST00000264167.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32						c.(1681-1683)ccT>ccC		alkylglycerone phosphate synthase							104	106	105					2																	178378622		2203	4299	6502	SO:0001819	synonymous_variant	8540				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity	g.chr2:178378622T>C	Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.1683T>C	2.37:g.178378622T>C						AGPS_ENST00000409888.1_Intron	p.P561P	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)		17	1829	+			561					A5D8U9|Q2TU35	Silent	SNP	ENST00000264167.4	37	c.1683T>C	CCDS2275.1																																																																																				0.303	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255730.2			3	93	0	0	0	1	0	3	93					C	178378622	T	C	178378622	2	2	415	1	0	0	0	0	0	0	0	1	394	1596	56	3		3	AGPS	2	178378622	Silent	SNP	T	TCGA-FE-A3PC-01A-11D-A21Z-08	127598534	178378622	64820751	12	8462											
PIK3CA	5290	broad.mit.edu	37	chr3	178917478	178917478	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttatgtaattttattaaagGttttgctatcggcatgccag	8	5	0	0			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr3:178917478G>A	ENST00000263967.3	+	3	510	c.353G>A	c.(352-354)gGt>gAt	p.G118D		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	118			G -> D (in CWS5). {ECO:0000269|PubMed:23246288}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|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)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.G118D(26)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TTTATTAAAGGTTTTGCTATC	0.338		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		26	Substitution - Missense(26)	p.G118D(26)	endometrium(11)|breast(4)|large_intestine(3)|central_nervous_system(3)|lung(3)|prostate(2)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.e3-1		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							93	87	89					3																	178917478		1809	4071	5880	SO:0001630	splice_region_variant	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178917478G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.353-1G>A	3.37:g.178917478G>A		HNSCC(19;0.045)|TSP Lung(28;0.18)					p.G118_splice	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		3	510	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		118					Q14CW1|Q99762	Splice_Site	SNP	ENST00000263967.3	37	c.352_splice	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954561	0.53293	.	.	ENSG00000121879	ENST00000263967	T	0.46451	0.87	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	M	0.63843	1.955	0.80722	D	1	D	0.61080	0.989	P	0.56398	0.797	T	0.53823	-0.8384	9	.	.	.	.	20.1236	0.97970	0.0:0.0:1.0:0.0	.	118	P42336	PK3CA_HUMAN	D	118	ENSP00000263967:G118D	.	G	+	2	0	PIK3CA	180400172	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	9.471000	0.97696	2.746000	0.94184	0.563000	0.77884	GGT		0.338	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		Missense_Mutation	11	79	0	0	0	1	0	11	79					A	178917478	G	A	178917478	5	1	415	1	0	0	0	0	0	0	1	0	11913	1275	44	2	359	2	PIK3CA	3	178917478	Splice_Site	SNP	G	TCGA-FE-A3PC-01A-11D-A21Z-08		178917478	19104952	13	8463											
LPHN3	23284	broad.mit.edu	37	chr4	62598711	62598711	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtggatggcacaggatttGtagtgtatgatggagctttg	17	3	0	1			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr4:62598711G>T	ENST00000514591.1	+	7	963	c.634G>T	c.(634-636)Gta>Tta	p.V212L	LPHN3_ENST00000514996.1_Missense_Mutation_p.V212L|LPHN3_ENST00000506720.1_Missense_Mutation_p.V280L|LPHN3_ENST00000509896.1_Missense_Mutation_p.V280L|LPHN3_ENST00000507164.1_Missense_Mutation_p.V280L|LPHN3_ENST00000514157.1_Missense_Mutation_p.V212L|LPHN3_ENST00000506746.1_Missense_Mutation_p.V280L|LPHN3_ENST00000511324.1_Missense_Mutation_p.V280L|LPHN3_ENST00000545650.1_Missense_Mutation_p.V212L|LPHN3_ENST00000508693.1_Missense_Mutation_p.V280L|LPHN3_ENST00000507625.1_Missense_Mutation_p.V280L|LPHN3_ENST00000504896.1_Missense_Mutation_p.V212L|LPHN3_ENST00000506700.1_Missense_Mutation_p.V212L|LPHN3_ENST00000512091.2_Missense_Mutation_p.V212L|LPHN3_ENST00000508946.1_Missense_Mutation_p.V212L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	212	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CACAGGATTTGTAGTGTATGA	0.448																																						ENST00000512091.1																			0				breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(634-636)Gta>Tta		latrophilin 3							80	75	76					4																	62598711		1906	4122	6028	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62598711G>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.634G>T	4.37:g.62598711G>T	ENSP00000422533:p.Val212Leu					LPHN3_ENST00000504896.1_Missense_Mutation_p.V212L|LPHN3_ENST00000545650.1_Missense_Mutation_p.V212L|LPHN3_ENST00000507625.1_Missense_Mutation_p.V280L|LPHN3_ENST00000506720.1_Missense_Mutation_p.V280L|LPHN3_ENST00000508946.1_Missense_Mutation_p.V212L|LPHN3_ENST00000514591.1_Missense_Mutation_p.V212L|LPHN3_ENST00000506700.1_Missense_Mutation_p.V212L|LPHN3_ENST00000508693.1_Missense_Mutation_p.V280L|LPHN3_ENST00000507164.1_Missense_Mutation_p.V280L|LPHN3_ENST00000506746.1_Missense_Mutation_p.V280L|LPHN3_ENST00000511324.1_Missense_Mutation_p.V280L|LPHN3_ENST00000509896.1_Missense_Mutation_p.V280L|LPHN3_ENST00000514157.1_Missense_Mutation_p.V212L|LPHN3_ENST00000514996.1_Missense_Mutation_p.V212L	p.V212L			Q9HAR2	LPHN3_HUMAN			7	1381	+			212			Olfactomedin-like.		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.634G>T	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152704	0.78001	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.90900	-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.95611	0.8573	M	0.82193	2.58	0.58432	D	0.999999	D;D;P	0.69078	0.997;0.997;0.902	D;D;D	0.79108	0.992;0.992;0.927	D	0.96123	0.9086	10	0.87932	D	0	.	17.8426	0.88719	0.0:0.0:1.0:0.0	.	212;280;212	E9PE04;E7EN28;Q9HAR2-2	.;.;.	L	212;212;280;280;212;212;212;212;212;280;280;280;212;212;212;280;280;212	ENSP00000423388:V212L;ENSP00000422533:V212L;ENSP00000423787:V280L;ENSP00000425033:V280L;ENSP00000424120:V212L;ENSP00000439831:V212L;ENSP00000421476:V280L;ENSP00000424030:V280L;ENSP00000421372:V280L;ENSP00000425201:V212L;ENSP00000423434:V212L;ENSP00000421627:V212L;ENSP00000420931:V280L;ENSP00000425884:V280L;ENSP00000424258:V212L	ENSP00000280009:V212L	V	+	1	0	LPHN3	62281306	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.869000	0.99810	2.458000	0.83093	0.557000	0.71058	GTA		0.448	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			4	47	1	0	0.00909568	1	0.00966416	4	47					T	62598711	G	T	62598711	3	4	415	1	0	0	0	0	1	0	0	0	8917	1377	48	4	652	4	LPHN3	4	62598711	Missense_Mutation	SNP	G	TCGA-FE-A3PC-01A-11D-A21Z-08		62598711	128555565	14	8464											
TUBB2B	347733	broad.mit.edu	37	chr6	3226415	3226415	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aacacgaaattgtctggtctGaagatctggccgaatggtcc	11	9	3	2			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr6:3226415G>C	ENST00000259818.7	-	3	446	c.255C>G	c.(253-255)ttC>ttG	p.F85L	TUBB2B_ENST00000473006.1_5'UTR	NM_178012.4	NP_821080.1	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B class IIb	85					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|neuron migration (GO:0001764)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10	Ovarian(93;0.0386)	all_hematologic(90;0.108)				TGTCTGGTCTGAAGATCTGGC	0.527																																						ENST00000259818.7																			0				kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10						c.(253-255)ttC>ttG		tubulin, beta 2B class IIb							112	97	102					6																	3226415		2203	4300	6503	SO:0001583	missense	347733				'de novo' posttranslational protein folding|microtubule-based movement|neuron migration|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr6:3226415G>C	BC001352	CCDS4485.1	6p25.2	2011-10-10	2011-10-10		ENSG00000137285	ENSG00000137285		"Tubulins"	30829	protein-coding gene	gene with protein product	"class IIb beta-tubulin"	612850	"tubulin, beta 2B"			8619474, 9110174	Standard	NM_178012		Approved	MGC8685, DKFZp566F223, bA506K6.1	uc003mvg.3	Q9BVA1	OTTHUMG00000014143	ENST00000259818.7:c.255C>G	6.37:g.3226415G>C	ENSP00000259818:p.Phe85Leu					TUBB2B_ENST00000473006.1_5'UTR	p.F85L	NM_178012.4	NP_821080.1	Q9BVA1	TBB2B_HUMAN			3	446	-	Ovarian(93;0.0386)	all_hematologic(90;0.108)	85					A8K068	Missense_Mutation	SNP	ENST00000259818.7	37	c.255C>G	CCDS4485.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.330084	0.41297	.	.	ENSG00000137285	ENST00000259818	T	0.70749	-0.51	5.31	4.45	0.53987	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.64402	D	0.000003	D	0.82416	0.5032	M	0.93978	3.48	0.80722	D	1	P	0.35383	0.498	P	0.57204	0.815	D	0.84788	0.0777	10	0.87932	D	0	.	8.8079	0.34950	0.2269:0.0:0.7731:0.0	.	85	Q9BVA1	TBB2B_HUMAN	L	85	ENSP00000259818:F85L	ENSP00000259818:F85L	F	-	3	2	TUBB2B	3171414	1.000000	0.71417	1.000000	0.80357	0.490000	0.33462	3.505000	0.53356	1.240000	0.43803	-0.222000	0.12452	TTC		0.527	TUBB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039680.2	NM_178012		48	54	0	0	0	1	0	48	54					C	3226415	G	C	3226415	3	2	415	1	0	0	0	0	1	0	0	0	16752	1281	45	4	1090	4	TUBB2B	6	3226415	Missense_Mutation	SNP	G	TCGA-FE-A3PC-01A-11D-A21Z-08		3226415	167888652	15	8465											
BTN2A2	10385	broad.mit.edu	37	chr6	26393042	26393042	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacatctacacatgtccccgTtcagcctttactgtgcctgt	6	15	2	0			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr6:26393042T>A	ENST00000356709.4	+	8	1530	c.1419T>A	c.(1417-1419)cgT>cgA	p.R473R	BTN2A2_ENST00000352867.2_Silent_p.R357R|BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000416795.2_Silent_p.R473R|BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000482536.1_Silent_p.R263R	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	473	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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						CATGTCCCCGTTCAGCCTTTA	0.557																																						ENST00000356709.4																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						c.(1417-1419)cgT>cgA		butyrophilin, subfamily 2, member A2							130	113	119					6																	26393042		2203	4300	6503	SO:0001819	synonymous_variant	10385				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		g.chr6:26393042T>A	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.1419T>A	6.37:g.26393042T>A						BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000352867.2_Silent_p.R357R|BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000482536.1_Silent_p.R263R|BTN2A2_ENST00000416795.2_Silent_p.R473R	p.R473R	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN			8	1530	+			473			B30.2/SPRY.		A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Silent	SNP	ENST00000356709.4	37	c.1419T>A	CCDS4606.1																																																																																				0.557	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1			4	122	0	0	0	1	0	4	122					A	26393042	T	A	26393042	2	1	415	1	0	0	0	0	0	0	0	1	1561	1712	60	5		5	BTN2A2	6	26393042	Silent	SNP	T	TCGA-FE-A3PC-01A-11D-A21Z-08	23166627	26393042	144722025	16	8466											
RMND1	55005	broad.mit.edu	37	chr6	151757610	151757610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcttgttacttcaacatatCcgtgggaggccagatcttga	10	9	2	2			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr6:151757610C>T	ENST00000367303.4	-	3	706	c.584G>A	c.(583-585)gGa>gAa	p.G195E	RMND1_ENST00000491268.1_5'UTR|RMND1_ENST00000336451.3_5'UTR	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	195					translation (GO:0006412)	mitochondrion (GO:0005739)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		TTCAACATATCCGTGGGAGGC	0.423																																						ENST00000367303.4																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(583-585)gGa>gAa		required for meiotic nuclear division 1 homolog (S. cerevisiae)							160	148	152					6																	151757610		2203	4300	6503	SO:0001583	missense	55005							g.chr6:151757610C>T	AK000634	CCDS5232.1, CCDS75539.1	6q25.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000155906	ENSG00000155906			21176	protein-coding gene	gene with protein product		614917	"chromosome 6 open reading frame 96"	C6orf96			Standard	NM_001271937		Approved	bA351K16.3, FLJ20627, RMD1	uc003qoi.3	Q9NWS8	OTTHUMG00000015837	ENST00000367303.4:c.584G>A	6.37:g.151757610C>T	ENSP00000356272:p.Gly195Glu					RMND1_ENST00000336451.3_5'UTR|RMND1_ENST00000491268.1_5'UTR	p.G195E	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)	3	706	-		Ovarian(120;0.125)	195					A8K8H4|Q0VDG6|Q5SZ48|Q5SZ83|Q6NSC5|Q96EN7	Missense_Mutation	SNP	ENST00000367303.4	37	c.584G>A	CCDS5232.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716479	0.89205	.	.	ENSG00000155906	ENST00000367303;ENST00000444024	T	0.52057	0.68	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.55955	0.1953	L	0.36672	1.1	0.80722	D	1	D;P	0.89917	1.0;0.944	D;P	0.97110	1.0;0.578	T	0.56679	-0.7939	10	0.66056	D	0.02	-26.4209	19.9882	0.97356	0.0:1.0:0.0:0.0	.	195;195	Q9NWS8-3;Q9NWS8	.;RMND1_HUMAN	E	195;25	ENSP00000356272:G195E	ENSP00000356272:G195E	G	-	2	0	RMND1	151799303	1.000000	0.71417	0.957000	0.39632	0.945000	0.59286	6.058000	0.71126	2.824000	0.97209	0.655000	0.94253	GGA		0.423	RMND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042718.2	NM_017909		17	110	0	0	0	1	0	17	110					T	151757610	C	T	151757610	3	4	415	1	0	0	0	0	1	0	0	0	13396	855	30	2	805	2	RMND1	6	151757610	Missense_Mutation	SNP	C	TCGA-FE-A3PC-01A-11D-A21Z-08	125364568	151757610	19357457	17	8467											
AKAP9	10142	broad.mit.edu	37	chr7	91711855	91711855	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacaactactgagctatttcAtagcaatgaagaaagtggat	9	6	1	3			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr7:91711855A>G	ENST00000359028.2	+	33	8300	c.8075A>G	c.(8074-8076)cAt>cGt	p.H2692R	AKAP9_ENST00000358100.2_Missense_Mutation_p.H2692R|AKAP9_ENST00000356239.3_Missense_Mutation_p.H2680R			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2692	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAGCTATTTCATAGCAATGAA	0.338			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(8074-8076)cAt>cGt		A kinase (PRKA) anchor protein 9							68	71	70					7																	91711855		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91711855A>G	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.8075A>G	7.37:g.91711855A>G	ENSP00000351922:p.His2692Arg					AKAP9_ENST00000356239.3_Missense_Mutation_p.H2680R|AKAP9_ENST00000358100.2_Missense_Mutation_p.H2692R	p.H2692R			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		33	8300	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		2692			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.8075A>G		.	.	.	.	.	.	.	.	.	.	A	4.939	0.174538	0.09391	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.03242	4.1;4.1;4.1;4.0	4.91	3.73	0.42828	.	.	.	.	.	T	0.05227	0.0139	L	0.51422	1.61	0.09310	N	1	B;B;B;B	0.19331	0.035;0.012;0.02;0.02	B;B;B;B	0.19391	0.025;0.011;0.025;0.025	T	0.31779	-0.9931	9	0.30854	T	0.27	.	11.3676	0.49681	0.8478:0.1522:0.0:0.0	.	2684;2692;2680;2672	Q99996-6;Q99996;Q99996-2;Q99996-3	.;AKAP9_HUMAN;.;.	R	2680;2692;2692;2684;526	ENSP00000348573:H2680R;ENSP00000351922:H2692R;ENSP00000350813:H2692R;ENSP00000378042:H526R	ENSP00000348573:H2680R	H	+	2	0	AKAP9	91549791	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	1.012000	0.29924	0.980000	0.38523	-0.449000	0.05564	CAT		0.338	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		3	84	0	0	0	1	0	3	84					G	91711855	A	G	91711855	3	3	415	1	0	0	0	0	1	0	0	0	459	217	8	3	8165	3	AKAP9	7	91711855	Missense_Mutation	SNP	A	TCGA-FE-A3PC-01A-11D-A21Z-08		91711855	67426808	18	8468											
CALD1	800	broad.mit.edu	37	chr7	134618477	134618477	+	Frame_Shift_Del	DEL	G	G	-													gagagggaaaggatgagggaGgaagagaaaagggcagcaga							TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr7:134618477delG	ENST00000361675.2	+	5	1186	c.957delG	c.(955-957)gagfs	p.E321fs	CALD1_ENST00000361388.2_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000495522.1_Intron			Q05682	CALD1_HUMAN	caldesmon 1	321	3 X 14 AA tandem repeats of E-E-E-K-R-A- A-E-E-R-Q-R-I-K.				cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						ggatgagggaggaagagaaaa	0.488																																						ENST00000361675.2																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						c.(955-957)gafs		caldesmon 1							105	117	113					7																	134618477		2198	4292	6490	SO:0001589	frameshift_variant	800				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	g.chr7:134618477delG	M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.957delG	7.37:g.134618477delG	ENSP00000354826:p.Glu321fs					CALD1_ENST00000422748.1_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000495522.1_Intron	p.E321fs			Q05682	CALD1_HUMAN			5	1186	+			321			3 X 14 AA tandem repeats of E-E-E-K-R-A- A-E-E-R-Q-R-I-K.		A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Frame_Shift_Del	DEL	ENST00000361675.2	37	c.957delG	CCDS5835.1																																																																																				0.488	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138		2	4						2	4	---	---	---	---	-	134618477	G	-	134618477	7	5	415	1	0	1	0	1	0	0	0	0	2581	991	35	0	1024	0	CALD1	7	134618477	Frame_Shift_Del	DEL	G	TCGA-FE-A3PC-01A-11D-A21Z-08	42906622	134618477	24520186	19	8469											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		55	67	0	0	0	1	0	55	67					T	140453136	A	T	140453136	3	4	415	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FE-A3PC-01A-11D-A21Z-08	5834659	140453136	18685527	20	8470											
KDM4C	23081	broad.mit.edu	37	chr9	6893216	6893216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtcagatggattgactatgGaaaagttgccaaattggtaa	11	4	1	2			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr9:6893216G>A	ENST00000381309.3	+	8	1470	c.905G>A	c.(904-906)gGa>gAa	p.G302E	KDM4C_ENST00000442236.2_Missense_Mutation_p.G121E|KDM4C_ENST00000489243.1_3'UTR|KDM4C_ENST00000535193.1_Missense_Mutation_p.G324E|KDM4C_ENST00000381306.3_Missense_Mutation_p.G302E|KDM4C_ENST00000543771.1_Missense_Mutation_p.G302E|KDM4C_ENST00000536108.1_Missense_Mutation_p.G121E	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	302	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						ATTGACTATGGAAAAGTTGCC	0.363																																						ENST00000381309.3																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(904-906)gGa>gAa		lysine (K)-specific demethylase 4C							95	96	95					9																	6893216		2203	4300	6503	SO:0001583	missense	23081				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:6893216G>A	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	17071	protein-coding gene	gene with protein product	"tudor domain containing 14C"	605469	"jumonji domain containing 2C"	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.905G>A	9.37:g.6893216G>A	ENSP00000370710:p.Gly302Glu					KDM4C_ENST00000543771.1_Missense_Mutation_p.G302E|KDM4C_ENST00000489243.1_3'UTR|KDM4C_ENST00000536108.1_Missense_Mutation_p.G121E|KDM4C_ENST00000535193.1_Missense_Mutation_p.G324E|KDM4C_ENST00000442236.2_Missense_Mutation_p.G121E|KDM4C_ENST00000381306.3_Missense_Mutation_p.G302E	p.G302E	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN			8	1470	+			302			JmjC.		B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	ENST00000381309.3	37	c.905G>A	CCDS6471.1	.	.	.	.	.	.	.	.	.	.	G	31	5.086035	0.94100	.	.	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000381309;ENST00000381306;ENST00000442236;ENST00000536108	T;T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54;-0.54	5.72	5.72	0.89469	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	D	0.91506	0.7318	H	0.98802	4.335	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.94199	0.7448	10	0.87932	D	0	-6.0165	20.244	0.98389	0.0:0.0:1.0:0.0	.	121;302;302;324;302;302	E7EV17;F5H347;B4E1Y4;F5H7P0;Q9H3R0;Q9H3R0-2	.;.;.;.;KDM4C_HUMAN;.	E	324;302;302;302;121;121	ENSP00000442382:G324E;ENSP00000445427:G302E;ENSP00000370710:G302E;ENSP00000370707:G302E;ENSP00000409353:G121E;ENSP00000440656:G121E	ENSP00000370707:G302E	G	+	2	0	KDM4C	6883216	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.747000	0.98863	2.865000	0.98341	0.655000	0.94253	GGA		0.363	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		5	121	0	0	0	1	0	5	121					A	6893216	G	A	6893216	3	1	415	1	0	0	0	0	1	0	0	0	8130	1174	41	2	1001	2	KDM4C	9	6893216	Missense_Mutation	SNP	G	TCGA-FE-A3PC-01A-11D-A21Z-08		6893216	134320215	21	8471											
CPEB3	22849	broad.mit.edu	37	chr10	94000047	94000049	+	In_Frame_Del	DEL	GCT	GCT	-													ttggggctgctgctgctgccGctgctgctgctggggctggg							TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr10:94000047_94000049delGCT	ENST00000265997.4	-	2	231_233	c.59_61delAGC	c.(58-63)cagcgg>cgg	p.Q20del	CPEB3_ENST00000412050.4_In_Frame_Del_p.Q20del	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	20	Gln-rich.				3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|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)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				tgctgctgccgctgctgctgctg	0.591																																						ENST00000412050.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18						c.(58-63)cgg>c		cytoplasmic polyadenylation element binding protein 3			,	12,3300		1,10,1645					,	-4.3	0.8			7	17,6581		2,13,3284	no	coding,coding	CPEB3	NM_014912.4,NM_001178137.1	,	3,23,4929	A1A1,A1R,RR		0.2577,0.3623,0.2926	,	,		29,9881				SO:0001651	inframe_deletion	22849						nucleotide binding|RNA binding	g.chr10:94000047_94000049delGCT	AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"RNA binding motif (RRM) containing"	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.59_61delAGC	10.37:g.94000056_94000058delGCT	ENSP00000265997:p.Gln20del					CPEB3_ENST00000265997.4_In_Frame_Del_p.QR20del	p.QR20del	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN			2	147_149	-		Colorectal(252;0.0869)	20			Gln-rich.		Q5T389|Q9NQJ7|Q9Y2E9	In_Frame_Del	DEL	ENST00000265997.4	37	c.59_61delAGC	CCDS31246.1																																																																																				0.591	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049387.2	NM_014912		2	4						2	4	---	---	---	---	-	94000049	GCT	-	94000047	7	5	415	1	0	1	0	1	0	0	0	0	3802	1086	38	0	2098	0	CPEB3	10	94000047	In_Frame_Del	DEL	GCT	TCGA-FE-A3PC-01A-11D-A21Z-08		94000047	41534700	22	8472											
ARL3	403	broad.mit.edu	37	chr10	104465155	104465155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcaagctgcttcagaagaGtggtcttgccagcattatcc	10	10	2	2			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr10:104465155G>A	ENST00000260746.5	-	2	226	c.95C>T	c.(94-96)aCt>aTt	p.T32I		NM_004311.3	NP_004302.1	P36405	ARL3_HUMAN	ADP-ribosylation factor-like 3	32					cilium morphogenesis (GO:0060271)|cytokinesis (GO:0000910)|intraciliary transport (GO:0042073)|kidney development (GO:0001822)|photoreceptor cell development (GO:0042461)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|spindle microtubule (GO:0005876)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)			large_intestine(2)	2		Colorectal(252;0.122)		Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22)		CTTCAGAAGAGTGGTCTTGCC	0.502																																						ENST00000260746.5																			0				large_intestine(2)	2						c.(94-96)aCt>aTt		ADP-ribosylation factor-like 3							157	119	132					10																	104465155		2203	4300	6503	SO:0001583	missense	403				cell cycle|cytokinesis|small GTPase mediated signal transduction	centrosome|cytoplasmic microtubule|Golgi membrane|midbody|nucleus|photoreceptor connecting cilium|spindle microtubule	GDP binding|GTP binding|metal ion binding|microtubule binding	g.chr10:104465155G>A	U07151	CCDS7538.1	10q23.3	2014-05-09			ENSG00000138175	ENSG00000138175		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	694	protein-coding gene	gene with protein product		604695				8034651, 10072593	Standard	NM_004311		Approved	ARFL3	uc001kwa.3	P36405	OTTHUMG00000018965	ENST00000260746.5:c.95C>T	10.37:g.104465155G>A	ENSP00000260746:p.Thr32Ile						p.T32I	NM_004311.3	NP_004302.1	P36405	ARL3_HUMAN		Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22)	2	226	-		Colorectal(252;0.122)	32					B2R6C7|Q53X83|Q5JSM2	Missense_Mutation	SNP	ENST00000260746.5	37	c.95C>T	CCDS7538.1	.	.	.	.	.	.	.	.	.	.	G	32	5.148847	0.94603	.	.	ENSG00000138175	ENST00000260746	D	0.89810	-2.57	5.88	5.88	0.94601	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.97651	0.9230	H	0.99847	4.84	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.98886	1.0771	10	0.87932	D	0	-10.318	20.2371	0.98361	0.0:0.0:1.0:0.0	.	32	P36405	ARL3_HUMAN	I	32	ENSP00000260746:T32I	ENSP00000260746:T32I	T	-	2	0	ARL3	104455145	1.000000	0.71417	0.808000	0.32385	0.994000	0.84299	9.835000	0.99442	2.788000	0.95919	0.555000	0.69702	ACT		0.502	ARL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050088.2	NM_004311		5	108	0	0	0	1	0	5	108					A	104465155	G	A	104465155	3	1	415	1	0	0	0	0	1	0	0	0	935	1029	36	2	473	2	ARL3	10	104465155	Missense_Mutation	SNP	G	TCGA-FE-A3PC-01A-11D-A21Z-08	10465108	104465155	31069592	23	8473											
NLRP6	171389	broad.mit.edu	37	chr11	281566	281566	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagccagaggaggaggaggAgggagaggagcccaactacc	18	8	0	3			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr11:281566A>G	ENST00000312165.5	+	4	1832	c.1832A>G	c.(1831-1833)gAg>gGg	p.E611G	NLRP6_ENST00000534750.1_Missense_Mutation_p.E611G	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGGAGGAGGAGGGAGAGGAG	0.662																																						ENST00000534750.1																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(1831-1833)gAg>gGg		NLR family, pyrin domain containing 6							76	89	84					11																	281566		2203	4299	6502	SO:0001583	missense	171389					cytoplasm	ATP binding	g.chr11:281566A>G	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"Nucleotide-binding domain and leucine rich repeat containing"	22944	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"	609650	"NACHT, leucine rich repeat and PYD containing 6"	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1832A>G	11.37:g.281566A>G	ENSP00000309767:p.Glu611Gly					NLRP6_ENST00000312165.5_Missense_Mutation_p.E611G	p.E611G	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	2037	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	611			Poly-Glu.		A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	c.1832A>G	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.454845	0.26161	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.75367	-0.93;-0.9	3.22	3.22	0.36961	.	0.671525	0.12247	N	0.485944	T	0.80204	0.4580	L	0.57536	1.79	0.32256	N	0.570815	D;D	0.71674	0.998;0.998	D;D	0.72982	0.979;0.979	T	0.76013	-0.3114	10	0.21540	T	0.41	.	8.1671	0.31233	1.0:0.0:0.0:0.0	.	611;611	E9PJZ8;P59044	.;NALP6_HUMAN	G	611	ENSP00000433617:E611G;ENSP00000309767:E611G	ENSP00000309767:E611G	E	+	2	0	NLRP6	271566	0.811000	0.29063	0.618000	0.29105	0.573000	0.36030	0.753000	0.26376	1.704000	0.51252	0.379000	0.24179	GAG		0.662	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		4	182	0	0	0	1	0	4	182					G	281566	A	G	281566	3	3	415	1	0	0	0	0	1	0	0	0	10481	304	11	3	1846	3	NLRP6	11	281566	Missense_Mutation	SNP	A	TCGA-FE-A3PC-01A-11D-A21Z-08		281566	134724950	24	8474											
OR5AS1	219447	broad.mit.edu	37	chr11	55798723	55798723	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgataaggtggtggcagtgTtttatactgttgtatttccc	11	6	0	1			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr11:55798723T>C	ENST00000313555.1	+	1	829	c.829T>C	c.(829-831)Ttt>Ctt	p.F277L		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GGTGGCAGTGTTTTATACTGT	0.378																																						ENST00000313555.1																			0				endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48						c.(829-831)Ttt>Ctt		olfactory receptor, family 5, subfamily AS, member 1							76	69	72					11																	55798723		2201	4296	6497	SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798723T>C	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"GPCR / Class A : Olfactory receptors"	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.829T>C	11.37:g.55798723T>C	ENSP00000324111:p.Phe277Leu						p.F277L	NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN			1	829	+	Esophageal squamous(21;0.00693)		277					Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	c.829T>C	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	T	12.17	1.856140	0.32791	.	.	ENSG00000181785	ENST00000313555	T	0.00032	8.88	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34338	U	0.004053	T	0.00144	0.0004	L	0.31926	0.97	0.09310	N	1	B	0.28605	0.217	B	0.34991	0.193	T	0.29701	-1.0003	10	0.72032	D	0.01	.	4.5333	0.12015	0.1715:0.0918:0.0:0.7367	.	277	Q8N127	O5AS1_HUMAN	L	277	ENSP00000324111:F277L	ENSP00000324111:F277L	F	+	1	0	OR5AS1	55555299	0.000000	0.05858	0.881000	0.34555	0.677000	0.39632	-0.134000	0.10436	1.865000	0.54081	0.472000	0.43445	TTT		0.378	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		36	43	0	0	0	1	0	36	43					C	55798723	T	C	55798723	3	2	415	1	0	0	0	0	1	0	0	0	11146	1725	60	3	831	3	OR5AS1	11	55798723	Missense_Mutation	SNP	T	TCGA-FE-A3PC-01A-11D-A21Z-08	55517157	55798723	79207793	25	8475											
ETS1	2113	broad.mit.edu	37	chr11	128360384	128360384	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccagtcgttgctgttctttaGtgaaaccactgaaagtagct	9	9	1	2			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr11:128360384G>C	ENST00000319397.6	-	2	479	c.170C>G	c.(169-171)aCt>aGt	p.T57S	ETS1_ENST00000531611.1_Missense_Mutation_p.T57S|ETS1_ENST00000526145.2_Missense_Mutation_p.T57S|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000392668.4_Missense_Mutation_p.T101S|ETS1_ENST00000345075.4_Missense_Mutation_p.T57S	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	57	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				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)		CTGTTCTTTAGTGAAACCACT	0.413																																						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.(301-303)aCt>aGt		v-ets avian erythroblastosis virus E26 oncogene homolog 1							141	129	133					11																	128360384		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.chr11:128360384G>C		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.170C>G	11.37:g.128360384G>C	ENSP00000324578:p.Thr57Ser					ETS1_ENST00000319397.5_Missense_Mutation_p.T57S|ETS1_ENST00000526145.1_Missense_Mutation_p.T57S|ETS1_ENST00000345075.4_Missense_Mutation_p.T57S|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000531611.1_Missense_Mutation_p.T57S	p.T101S	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)	4	370	-	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)	57			PNT.		A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Missense_Mutation	SNP	ENST00000319397.6	37	c.302C>G	CCDS8475.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.492022	0.26774	.	.	ENSG00000134954	ENST00000345075;ENST00000392668;ENST00000531611;ENST00000319397;ENST00000526145	T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63	5.65	2.48	0.30137	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.283649	0.37955	N	0.001877	T	0.20455	0.0492	N	0.20986	0.625	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.0	T	0.04454	-1.0950	10	0.14656	T	0.56	.	16.2174	0.82238	0.0:0.3758:0.6242:0.0	.	57;57;101	P14921;Q96AC5;Q6N087	ETS1_HUMAN;.;.	S	57;101;57;57;57	ENSP00000340485:T57S;ENSP00000376436:T101S;ENSP00000435666:T57S;ENSP00000324578:T57S;ENSP00000433500:T57S	ENSP00000324578:T57S	T	-	2	0	ETS1	127865594	1.000000	0.71417	0.988000	0.46212	0.992000	0.81027	5.323000	0.65858	0.684000	0.31448	0.563000	0.77884	ACT		0.413	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386269.2	NM_005238		8	110	0	0	0	1	0	8	110					C	128360384	G	C	128360384	3	2	415	1	0	0	0	0	1	0	0	0	5275	1029	36	4	1183	4	ETS1	11	128360384	Missense_Mutation	SNP	G	TCGA-FE-A3PC-01A-11D-A21Z-08	72561661	128360384	6646132	26	8476											
COL2A1	1280	broad.mit.edu	37	chr12	48391978	48391978	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgtctccaggttctccttTctgtccctgaaacatgaaac	7	12	3	2			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr12:48391978T>C	ENST00000380518.3	-	4	480	c.316A>G	c.(316-318)Aaa>Gaa	p.K106E	COL2A1_ENST00000337299.6_Missense_Mutation_p.K37E	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	106					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)	GGTTCTCCTTTCTGTCCCTGA	0.483																																						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.(316-318)Aaa>Gaa		collagen, type II, alpha 1	Collagenase(DB00048)						150	143	145					12																	48391978		2203	4300	6503	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.chr12:48391978T>C	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.316A>G	12.37:g.48391978T>C	ENSP00000369889:p.Lys106Glu					COL2A1_ENST00000337299.6_Missense_Mutation_p.K37E	p.K106E	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN			4	480	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	106					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.316A>G	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.946233	0.73672	.	.	ENSG00000139219	ENST00000380518;ENST00000337299	D;D	0.96522	-4.04;-4.04	5.04	5.04	0.67666	.	.	.	.	.	D	0.97723	0.9253	M	0.77486	2.375	0.80722	D	1	D;D	0.63880	0.974;0.993	D;D	0.68192	0.953;0.956	D	0.98479	1.0604	9	0.87932	D	0	.	14.0685	0.64847	0.0:0.0:0.0:1.0	.	37;106	P02458-1;P02458	.;CO2A1_HUMAN	E	106;37	ENSP00000369889:K106E;ENSP00000338213:K37E	ENSP00000338213:K37E	K	-	1	0	COL2A1	46678245	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.678000	0.84035	2.047000	0.60756	0.454000	0.30748	AAA		0.483	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		6	105	0	0	0	1	0	6	105					C	48391978	T	C	48391978	3	2	415	1	0	0	0	0	1	0	0	0	3687	1792	62	3	4351	3	COL2A1	12	48391978	Missense_Mutation	SNP	T	TCGA-FE-A3PC-01A-11D-A21Z-08		48391978	85459917	27	8477											
FNDC3A	22862	broad.mit.edu	37	chr13	49765500	49765500	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agacatacagcttcagactaCgtgcagctaacaaaatgggg	10	9	1	2			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr13:49765500C>A	ENST00000492622.2	+	19	2511	c.2206C>A	c.(2206-2208)Cgt>Agt	p.R736S	FNDC3A_ENST00000398316.3_Missense_Mutation_p.R680S|FNDC3A_ENST00000541916.1_Missense_Mutation_p.R736S	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	736	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CTTCAGACTACGTGCAGCTAA	0.363																																						ENST00000492622.2																			0				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41						c.(2206-2208)Cgt>Agt		fibronectin type III domain containing 3A							96	97	97					13																	49765500		2203	4300	6503	SO:0001583	missense	22862					Golgi membrane|integral to membrane		g.chr13:49765500C>A	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"Fibronectin type III domain containing"	20296	protein-coding gene	gene with protein product		615794	"fibronectin type III domain containing 3"	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.2206C>A	13.37:g.49765500C>A	ENSP00000417257:p.Arg736Ser					FNDC3A_ENST00000541916.1_Missense_Mutation_p.R736S|FNDC3A_ENST00000398316.3_Missense_Mutation_p.R680S	p.R736S	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	19	2511	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	736			Fibronectin type-III 5.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	c.2206C>A	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360043	0.41801	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.58210	0.35;0.35;0.35	5.47	4.61	0.57282	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.280994	0.28933	N	0.013661	T	0.53254	0.1785	L	0.48260	1.515	0.34747	D	0.731335	B;B	0.26577	0.153;0.048	B;B	0.40134	0.32;0.09	T	0.60541	-0.7243	10	0.25106	T	0.35	0.0845	13.7485	0.62890	0.2778:0.7222:0.0:0.0	.	680;736	Q9Y2H6-2;Q9Y2H6	.;FND3A_HUMAN	S	736;672;736;680	ENSP00000417257:R736S;ENSP00000441831:R736S;ENSP00000381362:R680S	ENSP00000338579:R672S	R	+	1	0	FNDC3A	48663501	0.994000	0.37717	0.471000	0.27229	0.973000	0.67179	3.218000	0.51192	1.270000	0.44297	0.655000	0.94253	CGT		0.363	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		3	100	1	0	2.56e-06	1	2.96727e-06	3	100					A	49765500	C	A	49765500	3	1	415	1	0	0	0	0	1	0	0	0	5969	536	19	4	2287	4	FNDC3A	13	49765500	Missense_Mutation	SNP	C	TCGA-FE-A3PC-01A-11D-A21Z-08		49765500	65404378	28	8478											
TPPP2	122664	broad.mit.edu	37	chr14	21500190	21500190	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactgacaacacaggctatgTgagtggttacaagggttctg	13	7	1	2			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr14:21500190T>C	ENST00000321760.6	+	4	615	c.467T>C	c.(466-468)gTg>gCg	p.V156A	TPPP2_ENST00000530140.2_Missense_Mutation_p.V156A|RP11-998D10.1_ENST00000531638.1_5'Flank|NDRG2_ENST00000403829.3_Intron|AL161668.5_ENST00000533984.1_lincRNA	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	156						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ACAGGCTATGTGAGTGGTTAC	0.542																																						ENST00000321760.6																			0				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(466-468)gTg>gCg		tubulin polymerization-promoting protein family member 2							202	154	170					14																	21500190		2203	4300	6503	SO:0001583	missense	122664					cytoplasm		g.chr14:21500190T>C	AY072034	CCDS9566.1	14q11.2	2014-01-21	2007-05-02	2007-05-02	ENSG00000179636	ENSG00000179636			19293	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 8"	C14orf8		15590652, 17105200	Standard	NM_173846		Approved	p25beta, p18, CT152	uc001vzh.3	P59282	OTTHUMG00000029642	ENST00000321760.6:c.467T>C	14.37:g.21500190T>C	ENSP00000317595:p.Val156Ala					NDRG2_ENST00000403829.3_Intron|TPPP2_ENST00000530140.2_Missense_Mutation_p.V156A	p.V156A	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)	4	615	+	all_cancers(95;0.000759)		156					Q2VYF3	Missense_Mutation	SNP	ENST00000321760.6	37	c.467T>C	CCDS9566.1	.	.	.	.	.	.	.	.	.	.	T	18.59	3.657039	0.67586	.	.	ENSG00000179636	ENST00000321760;ENST00000530140	T;T	0.59083	0.29;0.29	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.79511	0.4458	M	0.92026	3.265	0.80722	D	1	D	0.64830	0.994	D	0.85130	0.997	D	0.83917	0.0299	10	0.87932	D	0	-5.5496	12.0841	0.53688	0.0:0.0:0.0:1.0	.	156	P59282	TPPP2_HUMAN	A	156	ENSP00000317595:V156A;ENSP00000435356:V156A	ENSP00000317595:V156A	V	+	2	0	TPPP2	20570030	1.000000	0.71417	1.000000	0.80357	0.436000	0.31835	7.849000	0.86908	2.011000	0.59026	0.533000	0.62120	GTG		0.542	TPPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073914.3	NM_173846		4	112	0	0	0	1	0	4	112					C	21500190	T	C	21500190	3	2	415	1	0	0	0	0	1	0	0	0	16411	1696	59	3	477	3	TPPP2	14	21500190	Missense_Mutation	SNP	T	TCGA-FE-A3PC-01A-11D-A21Z-08		21500190	85849350	29	8479											
C14orf106	55320	broad.mit.edu	37	chr14	45687540	45687540	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgacatgtttctgggatccTtttcctctgggattttccat	9	9	2	1			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr14:45687540T>C	ENST00000310806.4	-	12	3245	c.2787A>G	c.(2785-2787)aaA>aaG	p.K929K		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	929	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.K929K(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TCTGGGATCCTTTTCCTCTGG	0.438																																						ENST00000310806.4																			1	Substitution - coding silent(1)	p.K929K(1)	lung(1)	NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						c.(2785-2787)aaA>aaG		MIS18 binding protein 1							135	131	132					14																	45687540		2203	4300	6503	SO:0001819	synonymous_variant	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45687540T>C	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"kinetochore null 2 homolog (C. elegans)"		"chromosome 14 open reading frame 106"	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2787A>G	14.37:g.45687540T>C							p.K929K	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN			12	3245	-			929			SANT.		D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Silent	SNP	ENST00000310806.4	37	c.2787A>G	CCDS9684.1																																																																																				0.438	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			3	172	0	0	0	1	0	3	172					C	45687540	T	C	45687540	2	2	415	1	0	0	0	0	0	0	0	1	1738	1606	56	3		3	C14orf106	14	45687540	Silent	SNP	T	TCGA-FE-A3PC-01A-11D-A21Z-08	24187350	45687540	61662000	30	8480											
SYNE2	23224	broad.mit.edu	37	chr14	64457230	64457230	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaagccaggagtcctttcaAcatgttctcacaactgggct	8	12	3	0			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr14:64457230A>G	ENST00000344113.4	+	20	2627	c.2415A>G	c.(2413-2415)caA>caG	p.Q805Q	SYNE2_ENST00000554584.1_Silent_p.Q805Q|SYNE2_ENST00000358025.3_Silent_p.Q805Q|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	805					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGTCCTTTCAACATGTTCTCA	0.358																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(2413-2415)caA>caG		spectrin repeat containing, nuclear envelope 2							109	106	106					14																	64457230		1839	4102	5941	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64457230A>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.2415A>G	14.37:g.64457230A>G						SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Silent_p.Q805Q|SYNE2_ENST00000554584.1_Silent_p.Q805Q	p.Q805Q	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	20	2645	+			805					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.2415A>G	CCDS41963.1																																																																																				0.358	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		7	169	0	0	0	1	0	7	169					G	64457230	A	G	64457230	2	3	415	1	0	0	0	0	0	0	0	1	15443	40	2	3		3	SYNE2	14	64457230	Silent	SNP	A	TCGA-FE-A3PC-01A-11D-A21Z-08	18769690	64457230	42892310	31	8481											
ZNF500	26048	broad.mit.edu	37	chr16	4810510	4810510	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccttcattctccagcggcGcgtcccgctgagctgggtcc	11	16	2	1			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr16:4810510G>A	ENST00000219478.6	-	5	1042	c.743C>T	c.(742-744)gCg>gTg	p.A248V	ZNF500_ENST00000545009.1_Missense_Mutation_p.A248V			O60304	ZN500_HUMAN	zinc finger protein 500	248	KRAB.				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(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						CTCCAGCGGCGCGTCCCGCTG	0.577																																						ENST00000219478.6																			0				endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						c.(742-744)gCg>gTg		zinc finger protein 500							116	97	104					16																	4810510		2197	4300	6497	SO:0001583	missense	26048				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:4810510G>A	AB011129	CCDS32383.1	16p13.3	2013-01-09				ENSG00000103199		"Zinc fingers, C2H2-type", "-", "-", "-"	23716	protein-coding gene	gene with protein product						9628581	Standard	XM_005255243		Approved	ZKSCAN18, KIAA0557, ZSCAN50	uc002cxp.1	O60304		ENST00000219478.6:c.743C>T	16.37:g.4810510G>A	ENSP00000219478:p.Ala248Val					ZNF500_ENST00000545009.1_Missense_Mutation_p.A248V	p.A248V			O60304	ZN500_HUMAN			5	1042	-			248			KRAB.		A8K6X7|B4DNN9|Q0VAL2|Q96CQ8|Q9BTG0	Missense_Mutation	SNP	ENST00000219478.6	37	c.743C>T	CCDS32383.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.740259	0.00675	.	.	ENSG00000103199	ENST00000545009;ENST00000219478	T;T	0.05319	3.54;3.46	3.16	-6.33	0.01988	Krueppel-associated box (1);	.	.	.	.	T	0.01870	0.0059	N	0.02247	-0.625	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46652	-0.9176	9	0.13470	T	0.59	.	5.8128	0.18475	0.3214:0.4054:0.2732:0.0	.	248;248	B4DNN9;O60304	.;ZN500_HUMAN	V	248	ENSP00000445714:A248V;ENSP00000219478:A248V	ENSP00000219478:A248V	A	-	2	0	ZNF500	4750511	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.117000	0.03283	-1.846000	0.01175	-2.214000	0.00298	GCG		0.577	ZNF500-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432461.1	XM_085507		26	106	0	0	0	1	0	26	106					A	4810510	G	A	4810510	3	1	415	1	0	0	0	0	1	0	0	0	17945	1087	38	1	707	1	ZNF500	16	4810510	Missense_Mutation	SNP	G	TCGA-FE-A3PC-01A-11D-A21Z-08		4810510	85544243	32	8482											
ANKS4B	257629	broad.mit.edu	37	chr16	21261647	21261647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagaagctccagttgtcaGcagaggaggacggcagtgtg	16	7	1	2			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr16:21261647G>A	ENST00000311620.5	+	2	833	c.760G>A	c.(760-762)Gca>Aca	p.A254T		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	254					response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CCAGTTGTCAGCAGAGGAGGA	0.488																																						ENST00000311620.5																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20						c.(760-762)Gca>Aca		ankyrin repeat and sterile alpha motif domain containing 4B							104	112	109					16																	21261647		2089	4212	6301	SO:0001583	missense	257629							g.chr16:21261647G>A	AK096138	CCDS42130.1	16p12.2	2013-01-10				ENSG00000175311		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	26795	protein-coding gene	gene with protein product		609901					Standard	NM_145865		Approved	FLJ38819, HARP	uc010bwp.1	Q8N8V4		ENST00000311620.5:c.760G>A	16.37:g.21261647G>A	ENSP00000308772:p.Ala254Thr						p.A254T	NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN		GBM - Glioblastoma multiforme(48;0.0565)	2	833	+			254						Missense_Mutation	SNP	ENST00000311620.5	37	c.760G>A	CCDS42130.1	.	.	.	.	.	.	.	.	.	.	G	9.580	1.123353	0.20959	.	.	ENSG00000175311	ENST00000311620	T	0.43294	0.95	5.77	3.82	0.43975	.	1.097350	0.06732	N	0.776849	T	0.39410	0.1077	L	0.51422	1.61	0.09310	N	0.999999	B	0.23937	0.094	B	0.16722	0.016	T	0.30937	-0.9961	10	0.23302	T	0.38	3.2356	11.2026	0.48749	0.1499:0.0:0.8501:0.0	.	254	Q8N8V4	ANS4B_HUMAN	T	254	ENSP00000308772:A254T	ENSP00000308772:A254T	A	+	1	0	ANKS4B	21169148	0.498000	0.26075	0.232000	0.24009	0.760000	0.43138	2.080000	0.41586	0.792000	0.33850	0.591000	0.81541	GCA		0.488	ANKS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436535.1	NM_145865		3	102	0	0	0	1	0	3	102					A	21261647	G	A	21261647	3	1	415	1	0	0	0	0	1	0	0	0	691	971	34	2	766	2	ANKS4B	16	21261647	Missense_Mutation	SNP	G	TCGA-FE-A3PC-01A-11D-A21Z-08	16451137	21261647	69093106	33	8483											
MYO1D	4642	broad.mit.edu	37	chr17	31082524	31082524	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cattacctttcggctggaaaAatgggcgtgtttgcccaatt	10	9	0	0			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr17:31082524A>T	ENST00000318217.5	-	11	1757	c.1453T>A	c.(1453-1455)Ttt>Att	p.F485I	MYO1D_ENST00000584232.1_5'UTR|MYO1D_ENST00000394649.4_Missense_Mutation_p.F397I|MYO1D_ENST00000579584.1_Missense_Mutation_p.F485I	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	485	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CGGCTGGAAAAATGGGCGTGT	0.398																																						ENST00000318217.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1453-1455)Ttt>Att		myosin ID							117	106	110					17																	31082524		2203	4300	6503	SO:0001583	missense	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:31082524A>T	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"Myosins / Myosin superfamily : Class I"	7598	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 108"	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.1453T>A	17.37:g.31082524A>T	ENSP00000324527:p.Phe485Ile					MYO1D_ENST00000579584.1_Missense_Mutation_p.F485I|MYO1D_ENST00000394649.4_Missense_Mutation_p.F397I|MYO1D_ENST00000584232.1_5'UTR	p.F485I	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		11	1757	-			485			Myosin head-like.		A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	37	c.1453T>A	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.076572	0.76415	.	.	ENSG00000176658	ENST00000318217	D	0.90133	-2.62	6.17	6.17	0.99709	Myosin head, motor domain (2);	0.188928	0.25081	U	0.033286	D	0.89378	0.6698	L	0.49126	1.545	0.80722	D	1	B;B	0.20780	0.048;0.048	B;B	0.30179	0.112;0.112	D	0.86396	0.1739	10	0.87932	D	0	.	14.7743	0.69713	1.0:0.0:0.0:0.0	.	396;485	Q7Z3N6;O94832	.;MYO1D_HUMAN	I	485	ENSP00000324527:F485I	ENSP00000324527:F485I	F	-	1	0	MYO1D	28106637	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	TTT		0.398	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			11	105	0	0	0	1	0	11	105					T	31082524	A	T	31082524	3	4	415	1	0	0	0	0	1	0	0	0	10071	14	1	5	1615	5	MYO1D	17	31082524	Missense_Mutation	SNP	A	TCGA-FE-A3PC-01A-11D-A21Z-08		31082524	50112686	34	8484											
CDC42EP4	23580	broad.mit.edu	37	chr17	71281678	71281678	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccccggaaggcagggctgCgctcctccaggatgcctgag	15	15	0	1			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr17:71281678C>T	ENST00000335793.3	-	2	1356	c.962G>A	c.(961-963)cGc>cAc	p.R321H	CDC42EP4_ENST00000581014.1_Silent_p.A53A|CDC42EP4_ENST00000439510.2_Missense_Mutation_p.R251H			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	321					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			GGCAGGGCTGCGCTCCTCCAG	0.672																																						ENST00000335793.3																			0				cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14						c.(961-963)cGc>cAc		CDC42 effector protein (Rho GTPase binding) 4							38	45	42					17																	71281678		2203	4300	6503	SO:0001583	missense	23580				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding	g.chr17:71281678C>T	AB042237	CCDS11695.1	17q24-q25	2008-07-18				ENSG00000179604			17147	protein-coding gene	gene with protein product	"Cdc42 effector protein 4", "binder of Rho GTPases 4"	605468				11035016, 10490598	Standard	NM_012121		Approved	CEP4, KAIA1777, BORG4, MGC3740, MGC17125	uc002jjo.3	Q9H3Q1		ENST00000335793.3:c.962G>A	17.37:g.71281678C>T	ENSP00000338258:p.Arg321His					CDC42EP4_ENST00000581014.1_Silent_p.A53A|CDC42EP4_ENST00000439510.2_Missense_Mutation_p.R251H	p.R321H			Q9H3Q1	BORG4_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)		2	1356	-			321					B3KUS7|O95828|Q96FT3	Missense_Mutation	SNP	ENST00000335793.3	37	c.962G>A	CCDS11695.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.504839	0.64410	.	.	ENSG00000179604	ENST00000335793;ENST00000439510	T;T	0.36699	1.26;1.24	4.29	4.29	0.51040	.	0.214022	0.31188	N	0.008083	T	0.43077	0.1231	M	0.63428	1.95	0.80722	D	1	D;D	0.64830	0.994;0.988	P;P	0.51324	0.666;0.517	T	0.34576	-0.9823	10	0.46703	T	0.11	-21.0323	9.4545	0.38747	0.0:0.8999:0.0:0.1001	.	251;321	B3KUS7;Q9H3Q1	.;BORG4_HUMAN	H	321;251	ENSP00000338258:R321H;ENSP00000404270:R251H	ENSP00000338258:R321H	R	-	2	0	CDC42EP4	68793273	0.973000	0.33851	1.000000	0.80357	0.869000	0.49853	-0.083000	0.11286	2.229000	0.72834	0.484000	0.47621	CGC		0.672	CDC42EP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441898.1	NM_012121		3	83	0	0	0	1	0	3	83					T	71281678	C	T	71281678	3	4	415	1	0	0	0	0	1	0	0	0	3078	768	27	1	112	1	CDC42EP4	17	71281678	Missense_Mutation	SNP	C	TCGA-FE-A3PC-01A-11D-A21Z-08	40199154	71281678	9913532	35	8485											
DNM2	1785	broad.mit.edu	37	chr19	10930718	10930718	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccgtgatgtggagaagggCttcatgtccaacaagcacgt	12	9	1	2			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr19:10930718C>T	ENST00000355667.6	+	16	1814	c.1734C>T	c.(1732-1734)ggC>ggT	p.G578G	DNM2_ENST00000359692.6_Silent_p.G574G|DNM2_ENST00000314646.5_Silent_p.G578G|DNM2_ENST00000585892.1_Silent_p.G578G|DNM2_ENST00000389253.4_Silent_p.G578G|DNM2_ENST00000408974.4_Silent_p.G574G|MIR199A1_ENST00000385019.1_RNA	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	578	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)			TGGAGAAGGGCTTCATGTCCA	0.572			"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.(1732-1734)ggC>ggT		dynamin 2							173	152	159					19																	10930718		2203	4300	6503	SO:0001819	synonymous_variant	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.chr19:10930718C>T		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.1734C>T	19.37:g.10930718C>T						DNM2_ENST00000408974.4_Silent_p.G574G|DNM2_ENST00000359692.6_Silent_p.G574G|DNM2_ENST00000389253.4_Silent_p.G578G|DNM2_ENST00000585892.1_Silent_p.G578G|DNM2_ENST00000355667.6_Silent_p.G578G	p.G578G			P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		16	1898	+			578			PH.		A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Silent	SNP	ENST00000355667.6	37	c.1734C>T	CCDS45968.1																																																																																				0.572	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		20	161	0	0	0	1	0	20	161					T	10930718	C	T	10930718	2	4	415	1	0	0	0	0	0	0	0	1	4672	784	28	2		2	DNM2	19	10930718	Silent	SNP	C	TCGA-FE-A3PC-01A-11D-A21Z-08		10930718	48198265	36	8486											
SYDE1	85360	broad.mit.edu	37	chr19	15224522	15224522	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccgagcaaccgctacgcCggcgactggagcgtttgcgg	14	16	0	0			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr19:15224522C>T	ENST00000342784.2	+	8	1987	c.1956C>T	c.(1954-1956)gcC>gcT	p.A652A	SYDE1_ENST00000600440.1_Silent_p.A585A|SYDE1_ENST00000600252.1_Silent_p.A309A	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	652					activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						ACCGCTACGCCGGCGACTGGA	0.697																																						ENST00000600252.1																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						c.(925-927)gcC>gcT		synapse defective 1, Rho GTPase, homolog 1 (C. elegans)							43	54	50					19																	15224522		2203	4298	6501	SO:0001819	synonymous_variant	85360				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr19:15224522C>T	BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.1956C>T	19.37:g.15224522C>T						SYDE1_ENST00000600440.1_Silent_p.A585A|SYDE1_ENST00000342784.2_Silent_p.A652A	p.A309A			Q6ZW31	SYDE1_HUMAN			5	2569	+			652					Q7L2I8|Q8N6J2|Q9H8K4	Silent	SNP	ENST00000342784.2	37	c.927C>T	CCDS12324.1																																																																																				0.697	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465666.1	NM_033025		5	108	0	0	0	1	0	5	108					T	15224522	C	T	15224522	2	4	415	1	0	0	0	0	0	0	0	1	15432	639	23	1		1	SYDE1	19	15224522	Silent	SNP	C	TCGA-FE-A3PC-01A-11D-A21Z-08	4293804	15224522	43904461	37	8487											
TEX101	83639	broad.mit.edu	37	chr19	43922526	43922526	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tactgctgccattgctgctgCcatcatttattcacttttcc	5	13	2	0			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr19:43922526C>A	ENST00000598265.1	+	6	893	c.727C>A	c.(727-729)Cca>Aca	p.P243T	TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000253435.7_Missense_Mutation_p.P261T|TEX101_ENST00000602198.1_Missense_Mutation_p.P261T	NM_001130011.1	NP_001123483.1	Q9BY14	TX101_HUMAN	testis expressed 101	243						acrosomal membrane (GO:0002080)|anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				ATTGCTGCTGCCATCATTTAT	0.498																																						ENST00000602198.1																			0				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15						c.(781-783)Cca>Aca		testis expressed 101							81	80	80					19																	43922526		2203	4300	6503	SO:0001583	missense	83639					anchored to membrane|plasma membrane		g.chr19:43922526C>A	AF241268	CCDS12619.1, CCDS59393.1	19q13.31	2013-06-06	2007-03-13			ENSG00000131126			30722	protein-coding gene	gene with protein product	"cancer/testis antigen 131", "spermatogenesis associated 44"	612665	"testis expressed sequence 101"			16388701, 16516155	Standard	NM_031451		Approved	MGC4766, SGRG, CT131, SPATA44	uc010xwo.2	Q9BY14		ENST00000598265.1:c.727C>A	19.37:g.43922526C>A	ENSP00000472769:p.Pro243Thr					TEX101_ENST00000598265.1_Missense_Mutation_p.P243T|TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000253435.7_Missense_Mutation_p.P261T	p.P261T	NM_031451.4	NP_113639.4	Q9BY14	TX101_HUMAN			8	1223	+		Prostate(69;0.0199)	243					Q7L5R2|Q9BPY7	Missense_Mutation	SNP	ENST00000598265.1	37	c.781C>A	CCDS59393.1	.	.	.	.	.	.	.	.	.	.	C	5.603	0.295973	0.10622	.	.	ENSG00000131126	ENST00000253435;ENST00000407156	T	0.09445	2.98	3.8	1.63	0.23807	.	2.930330	0.01206	N	0.007717	T	0.06781	0.0173	L	0.29908	0.895	0.09310	N	1	B;P	0.36874	0.436;0.572	B;B	0.27380	0.036;0.079	T	0.30475	-0.9977	10	0.08179	T	0.78	1.2864	5.3226	0.15889	0.0:0.6793:0.2078:0.1129	.	243;261	Q9BY14;Q9BY14-2	TX101_HUMAN;.	T	261;256	ENSP00000253435:P261T	ENSP00000253435:P261T	P	+	1	0	TEX101	48614366	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	0.176000	0.16782	0.566000	0.29273	-0.176000	0.13171	CCA		0.498	TEX101-004	KNOWN	non_canonical_other|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000463176.1	NM_031451		19	103	1	0	5.35267e-07	1	6.34851e-07	19	103					A	43922526	C	A	43922526	3	1	415	1	0	0	0	0	1	0	0	0	15770	739	26	4	803	4	TEX101	19	43922526	Missense_Mutation	SNP	C	TCGA-FE-A3PC-01A-11D-A21Z-08	28698004	43922526	15206457	38	8488											
CADM4	199731	broad.mit.edu	37	chr19	44129315	44129315	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgccgttatccgcggatacCagacccggcagcgtgagcgt	14	13	0	2			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr19:44129315C>A	ENST00000222374.2	-	7	891	c.843G>T	c.(841-843)ctG>ctT	p.L281L	CADM4_ENST00000593506.1_5'UTR	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	281	Ig-like C2-type 2.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				CCGCGGATACCAGACCCGGCA	0.632																																						ENST00000222374.2																			0				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12						c.(841-843)ctG>ctT		cell adhesion molecule 4							55	46	49					19																	44129315		2203	4300	6503	SO:0001819	synonymous_variant	199731				cell adhesion	integral to membrane		g.chr19:44129315C>A	AF363368	CCDS12627.1	19q13.32	2013-01-29	2007-02-07	2007-02-07		ENSG00000105767		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30825	protein-coding gene	gene with protein product	"nectin-like 4"	609744	"immunoglobulin superfamily, member 4C"	IGSF4C		11536053	Standard	NM_145296		Approved	TSLL2, Necl-4, SynCAM4	uc002oxc.1	Q8NFZ8		ENST00000222374.2:c.843G>T	19.37:g.44129315C>A						CADM4_ENST00000593506.1_5'UTR	p.L281L	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN			7	891	-		Prostate(69;0.0199)	281			Ig-like C2-type 2.		B2R7L5|Q9Y4A4	Silent	SNP	ENST00000222374.2	37	c.843G>T	CCDS12627.1																																																																																				0.632	CADM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463352.1	NM_145296		3	69	1	0	0.014758	1	0.0153604	3	69					A	44129315	C	A	44129315	2	1	415	1	0	0	0	0	0	0	0	1	2569	581	21	4		4	CADM4	19	44129315	Silent	SNP	C	TCGA-FE-A3PC-01A-11D-A21Z-08	206789	44129315	14999668	39	8489											
MYBPC2	4606	broad.mit.edu	37	chr19	50944246	50944246	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaagaagagcgagtacgagAaaatcgccttccagtatggc	11	9	0	3			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr19:50944246A>G	ENST00000357701.5	+	8	733	c.682A>G	c.(682-684)Aaa>Gaa	p.K228E		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	228					cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CGAGTACGAGAAAATCGCCTT	0.542																																						ENST00000357701.5																			0				breast(1)	1						c.(682-684)Aaa>Gaa		myosin binding protein C, fast type							42	45	44					19																	50944246		2091	4246	6337	SO:0001583	missense	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50944246A>G		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7550	protein-coding gene	gene with protein product	"fast-type muscle myosin-binding-protein C"	160793	"myosin-binding protein C, fast-type"			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.682A>G	19.37:g.50944246A>G	ENSP00000350332:p.Lys228Glu						p.K228E	NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	8	733	+		all_neural(266;0.057)	228					A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	c.682A>G	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	.	15.03	2.711968	0.48517	.	.	ENSG00000086967	ENST00000357701	T	0.62105	0.05	3.33	3.33	0.38152	.	0.839991	0.09491	U	0.794934	T	0.57636	0.2067	L	0.47716	1.5	0.29094	N	0.881873	B	0.34372	0.451	B	0.41946	0.371	T	0.51529	-0.8694	10	0.19147	T	0.46	.	7.66	0.28398	0.6402:0.3598:0.0:0.0	.	228	Q14324	MYPC2_HUMAN	E	228	ENSP00000350332:K228E	ENSP00000350332:K228E	K	+	1	0	MYBPC2	55636058	0.831000	0.29352	0.989000	0.46669	0.961000	0.63080	1.667000	0.37471	1.765000	0.52091	0.248000	0.18094	AAA		0.542	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		5	27	0	0	0	1	0	5	27					G	50944246	A	G	50944246	3	3	415	1	0	0	0	0	1	0	0	0	10012	247	9	3	712	3	MYBPC2	19	50944246	Missense_Mutation	SNP	A	TCGA-FE-A3PC-01A-11D-A21Z-08	6814931	50944246	8184737	40	8490											
PIM2	11040	broad.mit.edu	37	chrX	48772508	48772508	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgggcccttctctgtgatAtagtcaaagagatcctgggc	12	9	2	2			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chrX:48772508A>G	ENST00000376509.4	-	4	573	c.384T>C	c.(382-384)taT>taC	p.Y128Y	PIM2_ENST00000485431.1_5'Flank	NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	Pim-2 proto-oncogene, serine/threonine kinase	128	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic mitochondrial changes (GO:0008637)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|response to virus (GO:0009615)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			lung(3)|stomach(1)	4						TCTCTGTGATATAGTCAAAGA	0.597																																						ENST00000376509.4																			0				lung(3)|stomach(1)	4						c.(382-384)taT>taC		pim-2 oncogene							43	39	40					X																	48772508		2203	4300	6503	SO:0001819	synonymous_variant	11040				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity	g.chrX:48772508A>G	U77735	CCDS14312.1	Xp11.23	2014-06-25	2014-06-25		ENSG00000102096	ENSG00000102096			8987	protein-coding gene	gene with protein product		300295	"pim-2 oncogene"			9804974	Standard	NM_006875		Approved		uc004dls.3	Q9P1W9	OTTHUMG00000024132	ENST00000376509.4:c.384T>C	X.37:g.48772508A>G							p.Y128Y	NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN			4	573	-			128			Protein kinase.		A8K4G6|Q99739	Silent	SNP	ENST00000376509.4	37	c.384T>C	CCDS14312.1																																																																																				0.597	PIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060805.1			3	64	0	0	0	1	0	3	64					G	48772508	A	G	48772508	2	3	415	1	0	0	0	0	0	0	0	1	11928	456	16	3		3	PIM2	23	48772508	Silent	SNP	A	TCGA-FE-A3PC-01A-11D-A21Z-08		48772508	106498052	41	8491											
IFI44L	10964	broad.mit.edu	37	chr1	79095498	79095498	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttttggtgggtccagttggGtctggaaagtccagtttttt	13	6	1	0			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr1:79095498G>T	ENST00000370751.5	+	4	800	c.621G>T	c.(619-621)ggG>ggT	p.G207G	IFI44L_ENST00000342282.3_5'UTR|IFI44L_ENST00000476521.1_3'UTR	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	207					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						GTCCAGTTGGGTCTGGAAAGT	0.453																																						ENST00000370751.4																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(619-621)ggG>ggT		interferon-induced protein 44-like							127	125	125					1																	79095498		2203	4300	6503	SO:0001819	synonymous_variant	10964					cytoplasm		g.chr1:79095498G>T	AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"chromosome 1 open reading frame 29"	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.621G>T	1.37:g.79095498G>T						IFI44L_ENST00000342282.3_5'UTR|IFI44L_ENST00000476521.1_3'UTR	p.G207G	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN			4	800	+			207					Q86TE1|Q96B64|Q99984	Silent	SNP	ENST00000370751.5	37	c.621G>T	CCDS687.2																																																																																				0.453	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026834.3	NM_006820		3	38	1	0	1	1	1	3	38					T	79095498	G	T	79095498	2	4	416	1	0	0	0	0	0	0	0	1	7518	1248	44	4		4	IFI44L	1	79095498	Silent	SNP	G	TCGA-FE-A3PD-01A-11D-A21Z-08		79095498	170155123	1	8492											
OR6K2	81448	broad.mit.edu	37	chr1	158669597	158669597	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atggggttgaagaagggagaCaaaactgcaaaggccagagc	15	6	0	4	rs141159720	byFrequency	TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr1:158669597C>G	ENST00000359610.2	-	1	889	c.846G>C	c.(844-846)ttG>ttC	p.L282F		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AGAAGGGAGACAAAACTGCAA	0.403																																						ENST00000359610.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46						c.(844-846)ttG>ttC		olfactory receptor, family 6, subfamily K, member 2							99	95	96					1																	158669597		2203	4300	6503	SO:0001583	missense	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158669597C>G	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"GPCR / Class A : Olfactory receptors"	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.846G>C	1.37:g.158669597C>G	ENSP00000352626:p.Leu282Phe						p.L282F	NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN			1	889	-	all_hematologic(112;0.0378)		282					B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	c.846G>C	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734427	0.30774	.	.	ENSG00000196171	ENST00000359610	T	0.00202	8.56	4.94	0.778	0.18543	GPCR, rhodopsin-like superfamily (1);	0.526437	0.14024	N	0.346593	T	0.00073	0.0002	L	0.60455	1.87	0.09310	N	1	B	0.29671	0.254	B	0.41202	0.35	T	0.29941	-0.9995	10	0.66056	D	0.02	-7.6189	3.3173	0.07038	0.1399:0.5727:0.1359:0.1515	.	282	Q8NGY2	OR6K2_HUMAN	F	282	ENSP00000352626:L282F	ENSP00000352626:L282F	L	-	3	2	OR6K2	156936221	0.000000	0.05858	0.087000	0.20705	0.912000	0.54170	-1.640000	0.02009	-0.019000	0.14055	0.655000	0.94253	TTG		0.403	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		24	28	0	0	0	1	0	24	28					G	158669597	C	G	158669597	3	3	416	1	0	0	0	0	1	0	0	0	11202	477	17	4	132	4	OR6K2	1	158669597	Missense_Mutation	SNP	C	TCGA-FE-A3PD-01A-11D-A21Z-08	79574099	158669597	90581024	2	8493											
CACNA1E	777	broad.mit.edu	37	chr1	181452990	181452990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggcctcggggcaggcggCcgcctacaagcagacgaaag	16	14	0	1			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr1:181452990C>T	ENST00000367573.2	+	1	110	c.110C>T	c.(109-111)gCc>gTc	p.A37V	CACNA1E_ENST00000367570.1_Missense_Mutation_p.A37V|CACNA1E_ENST00000358338.5_5'UTR|CACNA1E_ENST00000357570.5_5'UTR|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000526775.1_Missense_Mutation_p.A37V|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A37V	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	37					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)			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						GGGCAGGCGGCCGCCTACAAG	0.652																																						ENST00000526775.1																			0				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.(109-111)gCc>gTc		calcium channel, voltage-dependent, R type, alpha 1E subunit							50	58	55					1																	181452990		1884	4088	5972	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181452990C>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.110C>T	1.37:g.181452990C>T	ENSP00000356545:p.Ala37Val					CACNA1E_ENST00000367570.1_Missense_Mutation_p.A37V|CACNA1E_ENST00000357570.5_5'UTR|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000358338.5_5'UTR|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A37V|CACNA1E_ENST00000367573.2_Missense_Mutation_p.A37V	p.A37V	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			1	275	+			37					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.110C>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.296198	0.60086	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000360108;ENST00000367573	D;D;D;D;D	0.97209	-4.29;-3.89;-3.88;-3.88;-3.89	5.67	5.67	0.87782	.	0.076709	0.49916	D	0.000121	D	0.95723	0.8609	L	0.34521	1.04	0.80722	D	1	P	0.50819	0.939	P	0.50314	0.637	D	0.94469	0.7683	10	0.25751	T	0.34	.	17.2721	0.87105	0.0:1.0:0.0:0.0	.	37	Q15878-3	.	V	37	ENSP00000432038:A37V;ENSP00000356542:A37V;ENSP00000434814:A37V;ENSP00000353222:A37V;ENSP00000356545:A37V	ENSP00000353222:A37V	A	+	2	0	CACNA1E	179719613	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.922000	0.56462	2.667000	0.90743	0.561000	0.74099	GCC		0.652	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		4	145	0	0	0	1	0	4	145					T	181452990	C	T	181452990	3	4	416	1	0	0	0	0	1	0	0	0	2542	739	26	2	112	2	CACNA1E	1	181452990	Missense_Mutation	SNP	C	TCGA-FE-A3PD-01A-11D-A21Z-08	22783393	181452990	67797631	3	8494											
TMEM178	130733	broad.mit.edu	37	chr2	39934227	39934227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcttcctcggcatggccGtagccgtccttctctgcggc	12	16	1	0			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr2:39934227G>A	ENST00000281961.2	+	3	609	c.553G>A	c.(553-555)Gta>Ata	p.V185I	TMEM178A_ENST00000482239.1_3'UTR	NM_152390.2	NP_689603.2	Q8NBL3	T178A_HUMAN	transmembrane protein 178A	185						integral component of membrane (GO:0016021)											CGGCATGGCCGTAGCCGTCCT	0.488																																						ENST00000281961.2																			0											c.(553-555)Gta>Ata		transmembrane protein 178A							73	66	68					2																	39934227		2203	4300	6503	SO:0001583	missense	130733							g.chr2:39934227G>A	BC029530	CCDS1804.1	2p22.1	2012-06-29	2012-06-29	2012-06-29	ENSG00000152154	ENSG00000152154			28517	protein-coding gene	gene with protein product			"transmembrane protein 178"	TMEM178		12975309	Standard	NM_001167959		Approved	MGC33926	uc002rrt.3	Q8NBL3	OTTHUMG00000128591	ENST00000281961.2:c.553G>A	2.37:g.39934227G>A	ENSP00000281961:p.Val185Ile					TMEM178A_ENST00000482239.1_3'UTR	p.V185I	NM_152390.2	NP_689603.2					3	609	+								Q6UWI6|Q8N6N4	Missense_Mutation	SNP	ENST00000281961.2	37	c.553G>A	CCDS1804.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777080	0.70107	.	.	ENSG00000152154	ENST00000281961	T	0.67523	-0.27	5.19	5.19	0.71726	.	0.110586	0.64402	D	0.000013	T	0.55561	0.1928	L	0.34521	1.04	0.40926	D	0.98435	B	0.24618	0.107	B	0.19946	0.027	T	0.52495	-0.8568	9	.	.	.	-9.3194	16.2261	0.82293	0.0:0.0:1.0:0.0	.	185	Q8NBL3	TM178_HUMAN	I	185	ENSP00000281961:V185I	.	V	+	1	0	TMEM178	39787731	1.000000	0.71417	0.112000	0.21494	0.878000	0.50629	8.818000	0.91991	2.437000	0.82529	0.655000	0.94253	GTA		0.488	TMEM178A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250445.2	NM_152390		3	75	0	0	0	1	0	3	75					A	39934227	G	A	39934227	3	1	416	1	0	0	0	0	1	0	0	0	16092	1145	40	1	563	1	TMEM178	2	39934227	Missense_Mutation	SNP	G	TCGA-FE-A3PD-01A-11D-A21Z-08		39934227	203265146	4	8495											
ROPN1B	152015	broad.mit.edu	37	chr3	125701153	125701153	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatagtgtgtgaggtcttatCatgtgaccacaatggtgggt	14	5	2	2	rs376987830		TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr3:125701153C>T	ENST00000514116.1	+	6	752	c.437C>T	c.(436-438)tCa>tTa	p.S146L	ROPN1B_ENST00000251776.4_Missense_Mutation_p.S146L|ROPN1B_ENST00000505382.1_Missense_Mutation_p.S54L|ROPN1B_ENST00000511082.1_Missense_Mutation_p.S54L			Q9BZX4	ROP1B_HUMAN	rhophilin associated tail protein 1B	146					acrosome reaction (GO:0007340)|cytokinesis (GO:0000910)|fusion of sperm to egg plasma membrane (GO:0007342)|Rho protein signal transduction (GO:0007266)|single organismal cell-cell adhesion (GO:0016337)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(114;0.151)		GAGGTCTTATCATGTGACCAC	0.428																																						ENST00000514116.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8						c.(436-438)tCa>tTa		rhophilin associated tail protein 1B							156	132	140					3																	125701153		2203	4300	6503	SO:0001583	missense	152015				acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|Rho protein signal transduction|sperm motility|spermatogenesis	cytoplasm|flagellum	cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity	g.chr3:125701153C>T	AF231410	CCDS33841.1	3q21.2	2011-01-20	2011-01-20		ENSG00000114547	ENSG00000114547			31927	protein-coding gene	gene with protein product			"ropporin, rhophilin associated protein 1B"				Standard	XM_005247137		Approved		uc003eih.3	Q9BZX4	OTTHUMG00000162651	ENST00000514116.1:c.437C>T	3.37:g.125701153C>T	ENSP00000426271:p.Ser146Leu					ROPN1B_ENST00000251776.4_Missense_Mutation_p.S146L|ROPN1B_ENST00000511082.1_Missense_Mutation_p.S54L|ROPN1B_ENST00000505382.1_Missense_Mutation_p.S54L	p.S146L			Q9BZX4	ROP1B_HUMAN		GBM - Glioblastoma multiforme(114;0.151)	6	752	+			146					D3DNA6|Q96BM7	Missense_Mutation	SNP	ENST00000514116.1	37	c.437C>T	CCDS33841.1	.	.	.	.	.	.	.	.	.	.	C	8.592	0.884702	0.17540	.	.	ENSG00000114547	ENST00000514116;ENST00000251776;ENST00000505382;ENST00000511082	T;T;T;T	0.25749	1.78;1.78;2.09;2.09	2.2	2.2	0.27929	.	0.124278	0.36374	N	0.002628	T	0.16896	0.0406	L	0.38175	1.15	0.27017	N	0.964559	B	0.33238	0.403	B	0.28232	0.087	T	0.18116	-1.0347	10	0.72032	D	0.01	-20.916	8.0396	0.30513	0.0:1.0:0.0:0.0	.	146	Q9BZX4	ROP1B_HUMAN	L	146;146;54;54	ENSP00000426271:S146L;ENSP00000251776:S146L;ENSP00000421662:S54L;ENSP00000424447:S54L	ENSP00000251776:S146L	S	+	2	0	ROPN1B	127183843	0.998000	0.40836	1.000000	0.80357	0.190000	0.23558	3.897000	0.56273	1.536000	0.49237	0.184000	0.17185	TCA		0.428	ROPN1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369931.1	NM_001012337		48	96	0	0	0	1	0	48	96					T	125701153	C	T	125701153	3	4	416	1	0	0	0	0	1	0	0	0	13524	838	29	2	451	2	ROPN1B	3	125701153	Missense_Mutation	SNP	C	TCGA-FE-A3PD-01A-11D-A21Z-08		125701153	72321277	5	8496											
C7	730	broad.mit.edu	37	chr5	40979879	40979879	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gaagcaaaaggatactgcctCtgacagtttgcaagatgcat	10	8	1	2			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr5:40979879C>G	ENST00000313164.9	+	17	2577	c.2218C>G	c.(2218-2220)Ctg>Gtg	p.L740V	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	740	Factor I module (FIM) 1.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				GATACTGCCTCTGACAGTTTG	0.413																																						ENST00000313164.9																			0											c.(2218-2220)Ctg>Gtg		complement component 7							85	84	84					5																	40979879		1950	4154	6104	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40979879C>G	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"Complement system"	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.2218C>G	5.37:g.40979879C>G	ENSP00000322061:p.Leu740Val					C7_ENST00000494960.1_3'UTR	p.L740V	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN			17	2577	+		Ovarian(839;0.0112)	740			Complement control factor I module 1.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.2218C>G	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.579399	0.46006	.	.	ENSG00000112936	ENST00000313164	T	0.63417	-0.04	5.8	3.04	0.35103	Factor I / membrane attack complex (1);	0.397129	0.23021	N	0.052844	T	0.76709	0.4025	M	0.78801	2.425	0.33890	D	0.637252	D	0.63880	0.993	D	0.79108	0.992	T	0.81931	-0.0707	10	0.62326	D	0.03	-3.0459	10.6431	0.45604	0.0:0.7182:0.1029:0.179	.	740	P10643	CO7_HUMAN	V	740	ENSP00000322061:L740V	ENSP00000322061:L740V	L	+	1	2	C7	41015636	0.825000	0.29262	0.996000	0.52242	0.897000	0.52465	0.825000	0.27393	0.378000	0.24764	-1.255000	0.01485	CTG		0.413	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			28	35	0	0	0	1	0	28	35					G	40979879	C	G	40979879	3	3	416	1	0	0	0	0	1	0	0	0	2375	912	32	4	2284	4	C7	5	40979879	Missense_Mutation	SNP	C	TCGA-FE-A3PD-01A-11D-A21Z-08		40979879	139935381	6	8497											
PLEKHG1	57480	broad.mit.edu	37	chr6	151153024	151153024	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agacctgatttctaaagaagGctcctttatgagccttaacc	7	10	1	4			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr6:151153024G>C	ENST00000358517.2	+	15	2988	c.2777G>C	c.(2776-2778)gGc>gCc	p.G926A	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.G926A			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	926							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TCTAAAGAAGGCTCCTTTATG	0.572																																						ENST00000367328.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(2776-2778)gGc>gCc		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							118	133	128					6																	151153024		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151153024G>C	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.2777G>C	6.37:g.151153024G>C	ENSP00000351318:p.Gly926Ala					PLEKHG1_ENST00000358517.2_Missense_Mutation_p.G926A	p.G926A	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	16	3089	+			926					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.2777G>C	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	g	6.794	0.515457	0.12944	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.58210	0.35;0.35	5.81	-2.32	0.06745	.	0.734952	0.14514	N	0.314915	T	0.15392	0.0371	N	0.19112	0.55	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.10450	0.003;0.003;0.005	T	0.32295	-0.9912	10	0.51188	T	0.08	.	9.7628	0.40543	0.4811:0.093:0.4259:0.0	.	733;926;926	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	A	926	ENSP00000356297:G926A;ENSP00000351318:G926A	ENSP00000351318:G926A	G	+	2	0	PLEKHG1	151194717	0.000000	0.05858	0.286000	0.24833	0.267000	0.26476	-0.434000	0.06939	-0.367000	0.08052	-0.735000	0.03563	GGC		0.572	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			129	213	0	0	0	1	0	129	213					C	151153024	G	C	151153024	3	2	416	1	0	0	0	0	1	0	0	0	12068	1203	42	4	2831	4	PLEKHG1	6	151153024	Missense_Mutation	SNP	G	TCGA-FE-A3PD-01A-11D-A21Z-08		151153024	19962043	7	8498											
PKD1L1	168507	broad.mit.edu	37	chr7	47921639	47921639	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cccatctccagggctctcctCggcactcaagctaggtcctg	9	17	3	0	rs372058157		TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr7:47921639C>A	ENST00000289672.2	-	20	3360	c.3310G>T	c.(3310-3312)Gag>Tag	p.E1104*		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1104	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGGCTCTCCTCGGCACTCAAG	0.527																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(3310-3312)Gag>Tag		polycystic kidney disease 1 like 1							83	73	76					7																	47921639		2203	4300	6503	SO:0001587	stop_gained	168507				cell-cell adhesion	integral to membrane		g.chr7:47921639C>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.3310G>T	7.37:g.47921639C>A	ENSP00000289672:p.Glu1104*						p.E1104*	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			20	3360	-			1104			REJ.		Q6UWK1	Nonsense_Mutation	SNP	ENST00000289672.2	37	c.3310G>T	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	C	40	7.999105	0.98602	.	.	ENSG00000158683	ENST00000289672	.	.	.	5.24	1.28	0.21552	.	1.520230	0.03937	N	0.286218	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-4.7817	5.916	0.19055	0.0:0.5378:0.2949:0.1673	.	.	.	.	X	1104	.	ENSP00000289672:E1104X	E	-	1	0	PKD1L1	47888164	0.001000	0.12720	0.000000	0.03702	0.099000	0.18886	1.043000	0.30316	0.022000	0.15160	-0.143000	0.13931	GAG		0.527	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		3	110	1	0	1	1	1	3	110					A	47921639	C	A	47921639	4	1	416	1	0	0	0	0	0	1	0	0	11964	893	31	4	5391	4	PKD1L1	7	47921639	Nonsense_Mutation	SNP	C	TCGA-FE-A3PD-01A-11D-A21Z-08		47921639	111217024	8	8499											
AKAP9	10142	broad.mit.edu	37	chr7	91730275	91730275	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctccagaaatctttgaaaAgggcagaggctgaagtatac	10	8	2	4			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr7:91730275A>G	ENST00000359028.2	+	45	11239	c.11014A>G	c.(11014-11016)Agg>Ggg	p.R3672G	AKAP9_ENST00000356239.3_Missense_Mutation_p.R3668G|AKAP9_ENST00000358100.2_Missense_Mutation_p.R3618G			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3672					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATCTTTGAAAAGGGCAGAGGC	0.393			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(11014-11016)Agg>Ggg		A kinase (PRKA) anchor protein 9							82	83	83					7																	91730275		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91730275A>G	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.11014A>G	7.37:g.91730275A>G	ENSP00000351922:p.Arg3672Gly					AKAP9_ENST00000356239.3_Missense_Mutation_p.R3668G|AKAP9_ENST00000358100.2_Missense_Mutation_p.R3618G	p.R3672G			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		45	11239	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		3672					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.11014A>G		.	.	.	.	.	.	.	.	.	.	A	15.99	2.996280	0.54147	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.03580	3.95;3.95;3.96;3.88	5.42	3.01	0.34805	.	0.000000	0.41823	D	0.000817	T	0.06280	0.0162	M	0.65975	2.015	0.27887	N	0.939467	P;P;P;P;P	0.41848	0.514;0.763;0.651;0.763;0.763	B;B;B;B;B	0.39027	0.212;0.229;0.15;0.288;0.288	T	0.08827	-1.0703	10	0.72032	D	0.01	.	12.1482	0.54036	0.4736:0.5264:0.0:0.0	.	943;3672;3672;3668;3660	B3KQF9;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	G	3668;3672;3618;3672;1514	ENSP00000348573:R3668G;ENSP00000351922:R3672G;ENSP00000350813:R3618G;ENSP00000378042:R1514G	ENSP00000348573:R3668G	R	+	1	2	AKAP9	91568211	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	3.356000	0.52269	1.062000	0.40625	0.528000	0.53228	AGG		0.393	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		3	121	0	0	0	1	0	3	121					G	91730275	A	G	91730275	3	3	416	1	0	0	0	0	1	0	0	0	459	63	3	3	11180	3	AKAP9	7	91730275	Missense_Mutation	SNP	A	TCGA-FE-A3PD-01A-11D-A21Z-08	43808636	91730275	67408388	9	8500											
ATG9B	285973	broad.mit.edu	37	chr7	150714349	150714349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgaggcctcagtctgtcccGccgagagccactgtgagcaa	13	14	2	2			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr7:150714349G>A	ENST00000377974.2	-	9	2138	c.2063C>T	c.(2062-2064)gCg>gTg	p.A688V	ATG9B_ENST00000444312.1_Missense_Mutation_p.A174V|ATG9B_ENST00000605938.1_Missense_Mutation_p.A688V|ATG9B_ENST00000494791.1_5'UTR			Q674R7	ATG9B_HUMAN	autophagy related 9B	688					autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTCTGTCCCGCCGAGAGCCA	0.592																																						ENST00000605938.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14						c.(2062-2064)gCg>gTg		autophagy related 9B							28	30	30					7																	150714349		2063	4217	6280	SO:0001583	missense	285973				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane		g.chr7:150714349G>A	AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"nitric oxide synthase 3 antisense", "ATG9 autophagy related 9 homolog B (S. cerevisiae)"	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000377974.2:c.2063C>T	7.37:g.150714349G>A	ENSP00000475005:p.Ala688Val					ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000377974.2_Missense_Mutation_p.A688V|ATG9B_ENST00000444312.1_Missense_Mutation_p.A174V	p.A688V	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	9	2138	-	all_neural(206;0.219)		688					A1A5D3|Q6JRW5|Q8N8I8	Missense_Mutation	SNP	ENST00000377974.2	37	c.2063C>T		.	.	.	.	.	.	.	.	.	.	G	5.053	0.195507	0.09599	.	.	ENSG00000248602	ENST00000377974;ENST00000444312;ENST00000397266	.	.	.	5.08	0.726	0.18248	.	0.298945	0.34700	N	0.003744	T	0.45716	0.1356	.	.	.	.	.	.	B	0.20887	0.049	B	0.15052	0.012	T	0.48055	-0.9068	7	0.41790	T	0.15	-2.3681	12.7549	0.57328	0.0:0.0:0.2641:0.7359	.	688	Q674R7	ATG9B_HUMAN	V	688;174;688	.	ENSP00000444232:A688V	A	-	2	0	AC010973.1	150345282	0.796000	0.28864	0.030000	0.17652	0.090000	0.18270	1.106000	0.31098	-0.187000	0.10516	0.491000	0.48974	GCG		0.592	ATG9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173681		3	50	0	0	0	1	0	3	50					A	150714349	G	A	150714349	3	1	416	1	0	0	0	0	1	0	0	0	1103	1087	38	1	730	1	ATG9B	7	150714349	Missense_Mutation	SNP	G	TCGA-FE-A3PD-01A-11D-A21Z-08	58984074	150714349	8424314	10	8501											
KIAA1217	56243	broad.mit.edu	37	chr10	24669920	24669920	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagggggatgctccaaccccTttttccagaggcagccggac	13	13	0	1			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr10:24669920T>C	ENST00000376454.3	+	3	507	c.477T>C	c.(475-477)ccT>ccC	p.P159P	KIAA1217_ENST00000376462.1_Silent_p.P79P|KIAA1217_ENST00000430453.2_Silent_p.P80P|KIAA1217_ENST00000458595.1_Silent_p.P159P|KIAA1217_ENST00000376452.3_Silent_p.P159P	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	159					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTCCAACCCCTTTTTCCAGAG	0.542																																						ENST00000376454.3																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(475-477)ccT>ccC		KIAA1217							62	63	63					10																	24669920		2203	4300	6503	SO:0001819	synonymous_variant	56243				embryonic skeletal system development	cytoplasm		g.chr10:24669920T>C	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.477T>C	10.37:g.24669920T>C						KIAA1217_ENST00000376462.1_Silent_p.P79P|KIAA1217_ENST00000376452.3_Silent_p.P159P|KIAA1217_ENST00000458595.1_Silent_p.P159P|KIAA1217_ENST00000430453.2_Silent_p.P80P	p.P159P	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN			3	507	+			159					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	37	c.477T>C	CCDS31165.1																																																																																				0.542	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		3	113	0	0	0	1	0	3	113					C	24669920	T	C	24669920	2	2	416	1	0	0	0	0	0	0	0	1	8216	1596	56	3		3	KIAA1217	10	24669920	Silent	SNP	T	TCGA-FE-A3PD-01A-11D-A21Z-08		24669920	110864827	11	8502											
ARID5B	84159	broad.mit.edu	37	chr10	63852302	63852302	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtgattgcagggaaaaAggcccgggcagtgtctccct	13	11	1	1			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr10:63852302A>G	ENST00000279873.7	+	10	3490	c.3080A>G	c.(3079-3081)aAg>aGg	p.K1027R	ARID5B_ENST00000309334.5_Missense_Mutation_p.K784R	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1027					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GCAGGGAAAAAGGCCCGGGCA	0.607																																						ENST00000279873.7																			0				NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(3079-3081)aAg>aGg		AT rich interactive domain 5B (MRF1-like)							64	73	70					10																	63852302		2203	4300	6503	SO:0001583	missense	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63852302A>G	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"-"	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.3080A>G	10.37:g.63852302A>G	ENSP00000279873:p.Lys1027Arg					ARID5B_ENST00000309334.5_Missense_Mutation_p.K784R	p.K1027R	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN			10	3490	+	Prostate(12;0.016)|all_hematologic(501;0.215)		1027					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	c.3080A>G	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.082179	0.76528	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.67698	-0.21;-0.28	5.72	5.72	0.89469	.	0.045424	0.85682	D	0.000000	T	0.79405	0.4440	L	0.56769	1.78	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.81398	-0.0951	10	0.87932	D	0	-21.9925	15.9898	0.80197	1.0:0.0:0.0:0.0	.	1027	Q14865	ARI5B_HUMAN	R	1027;784	ENSP00000279873:K1027R;ENSP00000308862:K784R	ENSP00000279873:K1027R	K	+	2	0	ARID5B	63522308	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.722000	0.91452	2.182000	0.69389	0.533000	0.62120	AAG		0.607	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		4	171	0	0	0	1	0	4	171					G	63852302	A	G	63852302	3	3	416	1	0	0	0	0	1	0	0	0	922	72	3	3	3118	3	ARID5B	10	63852302	Missense_Mutation	SNP	A	TCGA-FE-A3PD-01A-11D-A21Z-08	39182382	63852302	71682445	12	8503											
PIWIL4	143689	broad.mit.edu	37	chr11	94318686	94318686	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccaatggaaattccccaGcacaagtaggtttatttata	8	8	0	0			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr11:94318686G>A	ENST00000299001.6	+	6	922	c.711G>A	c.(709-711)caG>caA	p.Q237Q	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	237					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)				AAATTCCCCAGCACAAGTAGG	0.328																																						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.(709-711)caG>caA		piwi-like RNA-mediated gene silencing 4							103	109	107					11																	94318686		2201	4297	6498	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.chr11:94318686G>A	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.711G>A	11.37:g.94318686G>A						RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	p.Q237Q	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN			6	922	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	237					B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Silent	SNP	ENST00000299001.6	37	c.711G>A	CCDS31656.1																																																																																				0.328	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1	NM_152431		4	191	0	0	0	1	0	4	191					A	94318686	G	A	94318686	2	1	416	1	0	0	0	0	0	0	0	1	11960	962	34	2		2	PIWIL4	11	94318686	Silent	SNP	G	TCGA-FE-A3PD-01A-11D-A21Z-08		94318686	40687830	13	8504											
TMEM132B	114795	broad.mit.edu	37	chr12	126137125	126137125	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccacaccgagcagacaaaAgggccatcgtctccacagct	9	15	1	1			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr12:126137125A>G	ENST00000299308.3	+	8	2046	c.2038A>G	c.(2038-2040)Agg>Ggg	p.R680G	TMEM132B_ENST00000535886.1_Missense_Mutation_p.R192G	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	680						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGCAGACAAAAGGGCCATCGT	0.612																																						ENST00000299308.3																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(2038-2040)Agg>Ggg		transmembrane protein 132B							64	66	65					12																	126137125		2137	4252	6389	SO:0001583	missense	114795					integral to membrane		g.chr12:126137125A>G	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2038A>G	12.37:g.126137125A>G	ENSP00000299308:p.Arg680Gly					TMEM132B_ENST00000535886.1_Missense_Mutation_p.R192G	p.R680G	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	8	2046	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		680					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.2038A>G	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.204961	0.79127	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.13778	2.56;2.56	5.53	4.37	0.52481	.	0.000000	0.64402	D	0.000001	T	0.11623	0.0283	L	0.36672	1.1	0.58432	D	0.999997	P	0.35155	0.487	B	0.34779	0.189	T	0.12041	-1.0563	10	0.22109	T	0.4	.	12.664	0.56830	0.8617:0.1383:0.0:0.0	.	680	Q14DG7	T132B_HUMAN	G	680;192	ENSP00000299308:R680G;ENSP00000440436:R192G	ENSP00000299308:R680G	R	+	1	2	TMEM132B	124703078	1.000000	0.71417	0.898000	0.35279	0.921000	0.55340	3.785000	0.55424	0.895000	0.36342	-0.313000	0.08912	AGG		0.612	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		3	172	0	0	0	1	0	3	172					G	126137125	A	G	126137125	3	3	416	1	0	0	0	0	1	0	0	0	16043	63	3	3	2068	3	TMEM132B	12	126137125	Missense_Mutation	SNP	A	TCGA-FE-A3PD-01A-11D-A21Z-08		126137125	7714770	14	8505											
N6AMT2	221143	broad.mit.edu	37	chr13	21306248	21306248	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tggtaaacactaggggcactCacacatgcgattctaggaga	11	9	2	1			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr13:21306248C>G	ENST00000382758.1	-	4	287	c.240G>C	c.(238-240)gtG>gtC	p.V80V	N6AMT2_ENST00000382754.4_Silent_p.V80V			Q8WVE0	N6MT2_HUMAN	N-6 adenine-specific DNA methyltransferase 2 (putative)	80						extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(3)|lung(3)	7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TAGGGGCACTCACACATGCGA	0.398																																						ENST00000382758.1																			0				endometrium(1)|large_intestine(3)|lung(3)	7						c.(238-240)gtG>gtC		N-6 adenine-specific DNA methyltransferase 2 (putative)							84	87	86					13																	21306248		2202	4300	6502	SO:0001819	synonymous_variant	221143						methyltransferase activity|nucleic acid binding	g.chr13:21306248C>G	AK055408	CCDS9293.1	13q12.11	2006-12-14			ENSG00000150456	ENSG00000150456			27351	protein-coding gene	gene with protein product						12477932	Standard	NM_174928		Approved		uc001uno.1	Q8WVE0	OTTHUMG00000016519	ENST00000382758.1:c.240G>C	13.37:g.21306248C>G						N6AMT2_ENST00000382754.4_Silent_p.V80V	p.V80V			Q8WVE0	N6MT2_HUMAN		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)	4	287	-		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)	80					B5G4V1	Silent	SNP	ENST00000382758.1	37	c.240G>C	CCDS9293.1																																																																																				0.398	N6AMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044083.1	NM_174928		64	119	0	0	0	1	0	64	119					G	21306248	C	G	21306248	2	3	416	1	0	0	0	0	0	0	0	1	10115	813	29	4		4	N6AMT2	13	21306248	Silent	SNP	C	TCGA-FE-A3PD-01A-11D-A21Z-08		21306248	93863630	15	8506											
GPX2	2877	broad.mit.edu	37	chr14	65406325	65406325	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggaacttctcaaagttccAggccacatctgagcggcgca	11	12	2	1			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr14:65406325A>G	ENST00000389614.5	-	2	540	c.454T>C	c.(454-456)Tgg>Cgg	p.W152R	FNTB_ENST00000542227.1_Intron|FNTB_ENST00000447296.2_Intron|CHURC1-FNTB_ENST00000549987.1_Intron	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN	glutathione peroxidase 2 (gastrointestinal)	152					interaction with symbiont (GO:0051702)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|response to oxidative stress (GO:0006979)|response to symbiotic bacterium (GO:0009609)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|glutathione peroxidase activity (GO:0004602)			large_intestine(2)|ovary(1)|skin(1)	4				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)	TCAAAGTTCCAGGCCACATCT	0.562																																						ENST00000389614.5																			0				large_intestine(2)|ovary(1)|skin(1)	4						c.(454-456)Tgg>Cgg		glutathione peroxidase 2 (gastrointestinal)	Glutathione(DB00143)						102	99	100					14																	65406325		1955	4152	6107	SO:0001583	missense	2877				response to oxidative stress	cytoplasm	electron carrier activity|glutathione peroxidase activity	g.chr14:65406325A>G		CCDS41964.1	14q23.3	2012-05-22			ENSG00000176153	ENSG00000176153	1.11.1.9		4554	protein-coding gene	gene with protein product		138319				8428933, 8287691	Standard	NM_002083		Approved	GSHPX-GI	uc021ruq.2	P18283	OTTHUMG00000171677	ENST00000389614.5:c.454T>C	14.37:g.65406325A>G	ENSP00000374265:p.Trp152Arg					CHURC1-FNTB_ENST00000542227.1_Intron|CHURC1-FNTB_ENST00000447296.2_Intron	p.W152R	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN		all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	2	540	-			152					Q6PJ52|Q8WWI7|Q9NRP9	Missense_Mutation	SNP	ENST00000389614.5	37	c.454T>C	CCDS41964.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.799201	0.90538	.	.	ENSG00000176153	ENST00000389614;ENST00000557049	T;T	0.26810	1.71;3.53	6.05	6.05	0.98169	Thioredoxin-like fold (2);	0.000000	0.64402	D	0.000001	T	0.72669	0.3489	H	0.99783	4.775	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85997	0.1492	10	0.87932	D	0	-1.216	15.5757	0.76380	1.0:0.0:0.0:0.0	.	152	P18283	GPX2_HUMAN	R	152;96	ENSP00000374265:W152R;ENSP00000451721:W96R	ENSP00000374265:W152R	W	-	1	0	GPX2	64476078	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.320000	0.78422	0.528000	0.53228	TGG		0.562	GPX2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000414708.1			3	127	0	0	0	1	0	3	127					G	65406325	A	G	65406325	3	3	416	1	0	0	0	0	1	0	0	0	6740	188	7	3	122	3	GPX2	14	65406325	Missense_Mutation	SNP	A	TCGA-FE-A3PD-01A-11D-A21Z-08		65406325	41943215	16	8507											
ADAMTS7	11173	broad.mit.edu	37	chr15	79059040	79059040	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taggacagatcctcgtggaaAttgatgaaattgtagtcgta	11	5	0	3	rs199919711		TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr15:79059040A>G	ENST00000388820.4	-	19	3423	c.3213T>C	c.(3211-3213)aaT>aaC	p.N1071N	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1071					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 chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N1071N(2)|p.N1071S(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CCTCGTGGAAATTGATGAAAT	0.617																																						ENST00000388820.4																			4	Substitution - Missense(2)|Substitution - coding silent(2)	p.N1071N(2)|p.N1071S(2)	lung(2)|kidney(2)	NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(3211-3213)aaT>aaC		ADAM metallopeptidase with thrombospondin type 1 motif, 7																																				SO:0001819	synonymous_variant	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79059040A>G	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.3213T>C	15.37:g.79059040A>G							p.N1071N	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			19	3423	-			1071					Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	c.3213T>C	CCDS32303.1																																																																																				0.617	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		3	75	0	0	0	1	0	3	75					G	79059040	A	G	79059040	2	3	416	1	0	0	0	0	0	0	0	1	271	98	4	3		3	ADAMTS7	15	79059040	Silent	SNP	A	TCGA-FE-A3PD-01A-11D-A21Z-08		79059040	23472352	17	8508											
UBN1	29855	broad.mit.edu	37	chr16	4920917	4920917	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagaagatgaagaaaaAgggggcaggaggataatggg	19	1	0	4			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr16:4920917A>G	ENST00000396658.4	+	10	2206	c.1503A>G	c.(1501-1503)aaA>aaG	p.K501K	UBN1_ENST00000590769.1_Silent_p.K501K|UBN1_ENST00000262376.6_Silent_p.K501K|UBN1_ENST00000545171.1_Silent_p.K501K	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	501					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K501K(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						ATGAAGAAAAAGGGGGCAGGA	0.522																																						ENST00000396658.4																			1	Substitution - coding silent(1)	p.K501K(1)	lung(1)	NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(1501-1503)aaA>aaG		ubinuclein 1							72	71	72					16																	4920917		2197	4300	6497	SO:0001819	synonymous_variant	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4920917A>G	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.1503A>G	16.37:g.4920917A>G						UBN1_ENST00000262376.6_Silent_p.K501K|UBN1_ENST00000590769.1_Silent_p.K501K|UBN1_ENST00000545171.1_Silent_p.K501K	p.K501K	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN			10	2206	+			501					B7Z6D3|D3DUE8|Q13079|Q9P1P7	Silent	SNP	ENST00000396658.4	37	c.1503A>G	CCDS10525.1																																																																																				0.522	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		3	99	0	0	0	1	0	3	99					G	4920917	A	G	4920917	2	3	416	1	0	0	0	0	0	0	0	1	16889	69	3	3		3	UBN1	16	4920917	Silent	SNP	A	TCGA-FE-A3PD-01A-11D-A21Z-08		4920917	85433836	18	8509											
VAT1L	57687	broad.mit.edu	37	chr16	78005791	78005791	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacgaccgagggaacattggCaagttaattctggatgtaga	12	7	1	1			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr16:78005791C>A	ENST00000302536.2	+	8	1275	c.1122C>A	c.(1120-1122)ggC>ggA	p.G374G		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	374							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GGAACATTGGCAAGTTAATTC	0.522											OREG0023950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000302536.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1120-1122)ggC>ggA		vesicle amine transport 1-like							229	234	232					16																	78005791		2198	4300	6498	SO:0001819	synonymous_variant	57687						oxidoreductase activity|zinc ion binding	g.chr16:78005791C>A	AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"vesicle amine transport protein 1 homolog (T. californica)-like"			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.1122C>A	16.37:g.78005791C>A			OREG0023950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1180		p.G374G	NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN			8	1275	+			374					Q8IYW8	Silent	SNP	ENST00000302536.2	37	c.1122C>A	CCDS32492.1																																																																																				0.522	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434010.1	NM_020927		7	586	1	0	5.4927e-09	1	5.93806e-09	7	586					A	78005791	C	A	78005791	2	1	416	1	0	0	0	0	0	0	0	1	17127	697	25	4		4	VAT1L	16	78005791	Silent	SNP	C	TCGA-FE-A3PD-01A-11D-A21Z-08	73084874	78005791	12348962	19	8510											
MSI2	124540	broad.mit.edu	37	chr17	55752345	55752345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggcaggctccaacccggCgcggcccggaggcttcccgg	15	19	0	0			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr17:55752345C>T	ENST00000284073.2	+	12	1012	c.803C>T	c.(802-804)gCg>gTg	p.A268V	MSI2_ENST00000442934.2_Missense_Mutation_p.A207V|MSI2_ENST00000416426.2_Missense_Mutation_p.A264V|MSI2_ENST00000579505.1_3'UTR	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	268						cytoplasm (GO:0005737)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		TCCAACCCGGCGCGGCCCGGA	0.642			T	HOXA9	CML																																	ENST00000284073.2				Dom	yes		17	17q23.2	124540	T	musashi homolog 2 (Drosophila)			L	HOXA9		CML		0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7						c.(802-804)gCg>gTg		musashi RNA-binding protein 2							48	63	58					17																	55752345		2199	4284	6483	SO:0001583	missense	0					cytoplasm	nucleotide binding|RNA binding	g.chr17:55752345C>T	BC001526	CCDS11596.1, CCDS11597.1	17q23.2	2013-07-16	2012-12-13					"RNA binding motif (RRM) containing"	18585	protein-coding gene	gene with protein product		607897	"musashi homolog 2 (Drosophila)"			11588182	Standard	NM_138962		Approved		uc002iuz.1	Q96DH6		ENST00000284073.2:c.803C>T	17.37:g.55752345C>T	ENSP00000284073:p.Ala268Val					MSI2_ENST00000416426.2_Missense_Mutation_p.A264V|MSI2_ENST00000442934.2_Missense_Mutation_p.A207V|MSI2_ENST00000579505.1_3'UTR	p.A268V	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN		GBM - Glioblastoma multiforme(1;0.0025)	12	1012	+	Breast(9;1.78e-08)		268					Q7Z6M7|Q8N9T4	Missense_Mutation	SNP	ENST00000284073.2	37	c.803C>T	CCDS11596.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.860037	0.51482	.	.	ENSG00000153944	ENST00000416426;ENST00000284073;ENST00000442934	D;T;T	0.83914	-1.78;1.97;2.86	4.48	4.48	0.54585	.	0.118233	0.64402	D	0.000019	T	0.69975	0.3171	L	0.27053	0.805	0.80722	D	1	P;P	0.37612	0.553;0.602	B;B	0.27796	0.025;0.083	T	0.69756	-0.5059	10	0.17369	T	0.5	.	17.1487	0.86773	0.0:1.0:0.0:0.0	.	264;268	B4DHE8;Q96DH6	.;MSI2H_HUMAN	V	264;268;207	ENSP00000414671:A264V;ENSP00000284073:A268V;ENSP00000392607:A207V	ENSP00000284073:A268V	A	+	2	0	MSI2	53107344	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.038000	0.60285	0.491000	0.48974	GCG		0.642	MSI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441813.1			5	253	0	0	0	1	0	5	253					T	55752345	C	T	55752345	3	4	416	1	0	0	0	0	1	0	0	0	9876	768	27	1	944	1	MSI2	17	55752345	Missense_Mutation	SNP	C	TCGA-FE-A3PD-01A-11D-A21Z-08		55752345	25442865	20	8511											
CABLES1	91768	broad.mit.edu	37	chr18	20716015	20716023	+	In_Frame_Del	DEL	GGCGCCGGC	GGCGCCGGC	-													agggcggcgcggccaagccgGgcgccggcggcgcctgcggc					rs201595073|rs139352344	byFrequency	TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr18:20716015_20716023delGGCGCCGGC	ENST00000256925.7	+	1	289_297	c.289_297delGGCGCCGGC	c.(289-297)ggcgccggcdel	p.GAG97del	AC105247.1_ENST00000411067.1_RNA|CABLES1_ENST00000400473.2_Intron	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	97	Ala-rich.|Interacts with TDRD7. {ECO:0000250}.				blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|nervous system development (GO:0007399)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)	cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ggccaagccgggcgccggcggcgcctgcg	0.785														1123	0.224241	0.2602	0.17	5008	,	,		3844	0.244		0.2048	False		,,,				2504	0.2137					ENST00000256925.7																			0				breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11						c.(289-297)del		Cdk5 and Abl enzyme substrate 1																																				SO:0001651	inframe_deletion	91768				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding	g.chr18:20716015_20716023delGGCGCCGGC	BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508			25097	protein-coding gene	gene with protein product		609194				12477932	Standard	NM_138375		Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.289_297delGGCGCCGGC	18.37:g.20716015_20716023delGGCGCCGGC	ENSP00000256925:p.Gly97_Gly99del					CABLES1_ENST00000400473.2_Intron	p.GAG97del	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN			1	289_297	+	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)		97			Ala-rich.|Interacts with TDRD7 (By similarity).		B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	In_Frame_Del	DEL	ENST00000256925.7	37	c.289_297delGGCGCCGGC	CCDS42417.1																																																																																				0.785	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445198.2	NM_138375		5	1						5	1	---	---	---	---	-	20716023	GGCGCCGGC	-	20716015	7	5	416	1	0	1	0	1	0	0	0	0	2529	1232	43	0	291	0	CABLES1	18	20716015	In_Frame_Del	DEL	GGCGCCGGC	TCGA-FE-A3PD-01A-11D-A21Z-08		20716015	57361233	21	8512											
LAMA3	3909	broad.mit.edu	37	chr18	21484047	21484047	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagagctggcaaagcagctgGaagagtgagtgcatggccca	15	8	0	3			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr18:21484047G>A	ENST00000313654.9	+	50	6710	c.6469G>A	c.(6469-6471)Gaa>Aaa	p.E2157K	LAMA3_ENST00000269217.6_Missense_Mutation_p.E548K|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Missense_Mutation_p.E2101K|LAMA3_ENST00000587184.1_Missense_Mutation_p.E492K	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2157	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					AAAGCAGCTGGAAGAGTGAGT	0.567																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(6469-6471)Gaa>Aaa		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						64	65	64					18																	21484047		2203	4300	6503	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21484047G>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.6469G>A	18.37:g.21484047G>A	ENSP00000324532:p.Glu2157Lys					LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.E492K|LAMA3_ENST00000399516.3_Missense_Mutation_p.E2101K|LAMA3_ENST00000269217.6_Missense_Mutation_p.E548K	p.E2157K	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			50	6710	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2157			Domain II and I.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.6469G>A	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.829552	0.90955	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.77489	2.21;-1.1;1.92	6.11	6.11	0.99139	.	.	.	.	.	D	0.86598	0.5971	M	0.70595	2.14	0.58432	D	0.999991	D;D;D;D	0.76494	0.997;0.998;0.999;0.998	D;D;D;P	0.77004	0.985;0.989;0.948;0.873	D	0.86160	0.1593	9	0.52906	T	0.07	.	13.8713	0.63622	0.0692:0.0:0.9308:0.0	.	492;548;2101;2157	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	K	2157;2101;548	ENSP00000324532:E2157K;ENSP00000382432:E2101K;ENSP00000269217:E548K	ENSP00000269217:E548K	E	+	1	0	LAMA3	19738045	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	5.104000	0.64584	2.906000	0.99361	0.655000	0.94253	GAA		0.567	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		52	76	0	0	0	1	0	52	76					A	21484047	G	A	21484047	3	1	416	1	0	0	0	0	1	0	0	0	8607	1175	41	2	6842	2	LAMA3	18	21484047	Missense_Mutation	SNP	G	TCGA-FE-A3PD-01A-11D-A21Z-08	768032	21484047	56593201	22	8513											
ZNF223	7766	broad.mit.edu	37	chr19	44570331	44570331	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tttaaccaggcctcaagactCtaccataaagagctctcagt	6	12	3	2			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr19:44570331C>G	ENST00000434772.3	+	5	605	c.350C>G	c.(349-351)tCt>tGt	p.S117C	ZNF223_ENST00000591793.1_Missense_Mutation_p.S227C	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	117					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(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				CCTCAAGACTCTACCATAAAG	0.473																																						ENST00000591793.1																			0				endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(679-681)tCt>tGt		zinc finger protein 223							79	70	73					19																	44570331		2203	4300	6503	SO:0001583	missense	7766				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44570331C>G	AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"Zinc fingers, C2H2-type", "-"	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.350C>G	19.37:g.44570331C>G	ENSP00000401947:p.Ser117Cys					ZNF223_ENST00000434772.3_Missense_Mutation_p.S117C	p.S227C			Q9UK11	ZN223_HUMAN			7	763	+		Prostate(69;0.0352)	117					Q15736|Q8TBJ3|Q9HCA9	Missense_Mutation	SNP	ENST00000434772.3	37	c.680C>G	CCDS12635.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.910205	0.33721	.	.	ENSG00000178386	ENST00000434772	T	0.05319	3.46	2.7	0.395	0.16304	.	.	.	.	.	T	0.12305	0.0299	L	0.50333	1.59	0.09310	N	1	D	0.67145	0.996	P	0.58391	0.838	T	0.16897	-1.0387	9	0.66056	D	0.02	.	5.482	0.16729	0.0:0.6537:0.2104:0.1358	.	117	Q9UK11	ZN223_HUMAN	C	117	ENSP00000401947:S117C	ENSP00000401947:S117C	S	+	2	0	ZNF223	49262171	0.000000	0.05858	0.001000	0.08648	0.135000	0.20990	-0.402000	0.07223	0.411000	0.25702	0.313000	0.20887	TCT		0.473	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460469.2			41	50	0	0	0	1	0	41	50					G	44570331	C	G	44570331	3	3	416	1	0	0	0	0	1	0	0	0	17774	913	32	4	364	4	ZNF223	19	44570331	Missense_Mutation	SNP	C	TCGA-FE-A3PD-01A-11D-A21Z-08		44570331	14558652	23	8514											
MORC4	79710	broad.mit.edu	37	chrX	106186335	106186335	+	Frame_Shift_Del	DEL	A	A	-													aggtgcttctaccctcctgtAaggagcaggcatggaataat							TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chrX:106186335delA	ENST00000355610.4	-	15	2060	c.1786delT	c.(1786-1788)tacfs	p.Y596fs	MORC4_ENST00000535534.1_Frame_Shift_Del_p.Y344fs|MORC4_ENST00000255495.7_Frame_Shift_Del_p.Y596fs	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	596						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						ACCCTCCTGTAAGGAGCAGGC	0.463																																						ENST00000355610.4																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						c.(1786-1788)acfs		MORC family CW-type zinc finger 4							148	144	145					X																	106186335		2203	4300	6503	SO:0001589	frameshift_variant	79710						ATP binding|zinc ion binding	g.chrX:106186335delA	AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"zinc finger, CW-type with coiled-coil domain 2", "zinc finger, CW type with coiled-coil domain 2"	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.1786delT	X.37:g.106186335delA	ENSP00000347821:p.Tyr596fs					MORC4_ENST00000255495.7_Frame_Shift_Del_p.Y596fs|MORC4_ENST00000535534.1_Frame_Shift_Del_p.Y344fs	p.Y596fs	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN			15	2060	-			596					A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Frame_Shift_Del	DEL	ENST00000355610.4	37	c.1786delT	CCDS14525.2																																																																																				0.463	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3	NM_024657		18	208						18	208	---	---	---	---	-	106186335	A	-	106186335	7	5	416	1	0	1	0	1	0	0	0	0	9704	362	13	0	1039	0	MORC4	23	106186335	Frame_Shift_Del	DEL	A	TCGA-FE-A3PD-01A-11D-A21Z-08		106186335	49084225	24	8515											
HMGB3	3149	broad.mit.edu	37	chrX	150156378	150156378	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggaggaggaggaGgatgaataaagaaactgttt	18	1	0	2			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chrX:150156378G>T	ENST00000325307.7	+	5	690	c.594G>T	c.(592-594)gaG>gaT	p.E198D	HMGB3_ENST00000448905.2_Missense_Mutation_p.E198D	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	198	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaggaggaggaTGAATAAA	0.463																																						ENST00000325307.7																			0				endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(592-594)gaG>gaT		high mobility group box 3							49	48	49					X																	150156378		2203	4299	6502	SO:0001583	missense	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156378G>T	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.594G>T	X.37:g.150156378G>T	ENSP00000359393:p.Glu198Asp					HMGB3_ENST00000448905.2_Missense_Mutation_p.E198D	p.E198D	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	690	+	Acute lymphoblastic leukemia(192;6.56e-05)		198			Asp/Glu-rich (acidic).		O95556|Q6NS40	Missense_Mutation	SNP	ENST00000325307.7	37	c.594G>T	CCDS35428.1	.	.	.	.	.	.	.	.	.	.	g	0.347	-0.947364	0.02304	.	.	ENSG00000029993	ENST00000325307;ENST00000448905	T;T	0.35048	1.33;1.33	4.84	-6.29	0.02013	.	0.320496	0.22526	N	0.058902	T	0.10208	0.0250	N	0.08118	0	0.20764	N	0.999851	B	0.02656	0.0	B	0.01281	0.0	T	0.15636	-1.0430	9	.	.	.	.	0.6043	0.00750	0.3103:0.1878:0.1198:0.3821	.	198	O15347	HMGB3_HUMAN	D	198	ENSP00000359393:E198D;ENSP00000442758:E198D	.	E	+	3	2	HMGB3	149907036	0.210000	0.23517	0.059000	0.19551	0.160000	0.22226	0.068000	0.14531	-1.155000	0.02822	0.600000	0.82982	GAG		0.463	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		4	136	1	0	0.014758	1	0.0155347	4	136					T	150156378	G	T	150156378	3	4	416	1	0	0	0	0	1	0	0	0	7227	991	35	4	608	4	HMGB3	23	150156378	Missense_Mutation	SNP	G	TCGA-FE-A3PD-01A-11D-A21Z-08	43970043	150156378	5114182	25	8516											
CSMD2	114784	broad.mit.edu	37	chr1	34164511	34164511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgtagccaaacttggggGttcctgggtcctcacatttg	11	11	1	0			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr1:34164511G>A	ENST00000373380.1	-	3	606	c.386C>T	c.(385-387)aCc>aTc	p.T129I	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Missense_Mutation_p.T1256I			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1216	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AAACTTGGGGGTTCCTGGGTC	0.517																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(3766-3768)aCc>aTc		CUB and Sushi multiple domains 2							64	61	62					1																	34164511		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34164511G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.386C>T	1.37:g.34164511G>A	ENSP00000362478:p.Thr129Ile					CSMD2_ENST00000373380.1_Missense_Mutation_p.T129I|CSMD2_ENST00000373388.2_5'UTR	p.T1256I	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			24	3943	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1216			Sushi 7.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.3767C>T		.	.	.	.	.	.	.	.	.	.	G	1.537	-0.542838	0.04053	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.65178	-0.14;-0.14	5.76	2.42	0.29668	Complement control module (2);Sushi/SCR/CCP (3);	0.260649	0.38111	N	0.001819	T	0.28200	0.0696	N	0.03084	-0.415	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.10450	0.005;0.002;0.004	T	0.24190	-1.0167	10	0.02654	T	1	.	5.6913	0.17831	0.4503:0.0:0.5496:0.0	.	129;1216;1256	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	I	1256;129	ENSP00000362479:T1256I;ENSP00000362478:T129I	ENSP00000241312:T1216I	T	-	2	0	CSMD2	33937098	1.000000	0.71417	0.990000	0.47175	0.572000	0.35998	6.441000	0.73439	0.909000	0.36697	-0.133000	0.14855	ACC		0.517	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		3	74	0	0	0	1	0	3	74					A	34164511	G	A	34164511	3	1	417	1	0	0	0	0	1	0	0	0	3945	1261	44	2	7000	2	CSMD2	1	34164511	Missense_Mutation	SNP	G	TCGA-FK-A3S3-01A-11D-A22D-08		34164511	215086110	1	8517											
EPRS	2058	broad.mit.edu	37	chr1	220153563	220153567	+	Frame_Shift_Del	DEL	AAGTC	AAGTC	-													cttcatatacctgagcatatAagtcaagtatctgcaagacc							TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr1:220153563_220153567delAAGTC	ENST00000366923.3	-	26	3840_3844	c.3571_3575delGACTT	c.(3571-3576)gacttafs	p.DL1191fs		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1191	Proline--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)	p.D1191H(1)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	CTGAGCATATAAGTCAAGTATCTGC	0.322																																						ENST00000366923.3																			1	Substitution - Missense(1)	p.D1191H(1)	lung(1)	breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63						c.(3571-3576)afs		glutamyl-prolyl-tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)																																			SO:0001589	frameshift_variant	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220153563_220153567delAAGTC	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"Aminoacyl tRNA synthetases / Class I", "Aminoacyl tRNA synthetases / Class II"	3418	protein-coding gene	gene with protein product	"glutamate tRNA ligase", "proline tRNA ligase"	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.3571_3575delGACTT	1.37:g.220153563_220153567delAAGTC	ENSP00000355890:p.Asp1191fs						p.DL1191fs	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	26	3840_3844	-			1191			Prolyl-tRNA synthetase.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Frame_Shift_Del	DEL	ENST00000366923.3	37	c.3571_3575delGACTT	CCDS31027.1																																																																																				0.322	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		11	55						11	55	---	---	---	---	-	220153567	AAGTC	-	220153563	7	5	417	1	0	1	0	1	0	0	0	0	5191	372	13	0	991	0	EPRS	1	220153563	Frame_Shift_Del	DEL	AAGTC	TCGA-FK-A3S3-01A-11D-A22D-08	185989052	220153563	29097058	2	8518											
ALK	238	broad.mit.edu	37	chr2	29474098	29474098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgggtggggccatgggGcccgctggccccacatgtgg	18	13	0	0			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr2:29474098G>A	ENST00000389048.3	-	12	2983	c.2077C>T	c.(2077-2079)Ccc>Tcc	p.P693S	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	693					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GGGCCATGGGGCCCGCTGGCC	0.642			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000389048.3			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	"T, Mis, A"	anaplastic lymphoma kinase (Ki-1)			"L, E, M"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	neuroblastoma	"ALCL, NSCLC, Neuroblastoma"	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	0				NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340						c.(2077-2079)Ccc>Tcc		anaplastic lymphoma receptor tyrosine kinase	Adenosine triphosphate(DB00171)						38	40	40					2																	29474098		2203	4300	6503	SO:0001583	missense	238	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29474098G>A	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.2077C>T	2.37:g.29474098G>A	ENSP00000373700:p.Pro693Ser					ALK_ENST00000431873.1_Intron	p.P693S	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN			12	2983	-	Acute lymphoblastic leukemia(172;0.155)		693					Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.2077C>T	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.577008	0.65878	.	.	ENSG00000171094	ENST00000389048	T	0.77358	-1.09	5.19	5.19	0.71726	.	0.145747	0.31673	N	0.007250	D	0.82591	0.5070	M	0.62723	1.935	0.80722	D	1	D	0.58620	0.983	P	0.52598	0.703	T	0.82271	-0.0540	9	.	.	.	.	18.723	0.91703	0.0:0.0:1.0:0.0	.	693	Q9UM73	ALK_HUMAN	S	693	ENSP00000373700:P693S	.	P	-	1	0	ALK	29327602	1.000000	0.71417	0.963000	0.40424	0.229000	0.25112	6.362000	0.73077	2.583000	0.87209	0.561000	0.74099	CCC		0.642	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		3	28	0	0	0	1	0	3	28					A	29474098	G	A	29474098	3	1	417	1	0	0	0	0	1	0	0	0	525	1203	42	2	2857	2	ALK	2	29474098	Missense_Mutation	SNP	G	TCGA-FK-A3S3-01A-11D-A22D-08		29474098	213725275	3	8519											
SCN5A	6331	broad.mit.edu	37	chr3	38591931	38591931	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggtggctctagtgacactgtCataggagggtgggaaggaag	18	5	2	1			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr3:38591931C>G	ENST00000333535.4	-	28	6081	c.5932G>C	c.(5932-5934)Gac>Cac	p.D1978H	SCN5A_ENST00000450102.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000451551.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000425664.1_Missense_Mutation_p.D1960H|SCN5A_ENST00000423572.2_Missense_Mutation_p.D1977H|SCN5A_ENST00000414099.2_Missense_Mutation_p.D1960H|SCN5A_ENST00000455624.2_Missense_Mutation_p.D1945H|SCN5A_ENST00000449557.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000413689.1_Missense_Mutation_p.D1978H|SCN5A_ENST00000443581.1_Missense_Mutation_p.D1977H			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1978					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)	GTGACACTGTCATAGGAGGGT	0.602																																						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.(5932-5934)Gac>Cac		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)						42	47	45					3																	38591931		2022	4172	6194	SO:0001583	missense	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.chr3:38591931C>G	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.5932G>C	3.37:g.38591931C>G	ENSP00000328968:p.Asp1978His					SCN5A_ENST00000443581.1_Missense_Mutation_p.D1977H|SCN5A_ENST00000455624.2_Missense_Mutation_p.D1945H|SCN5A_ENST00000333535.4_Missense_Mutation_p.D1978H|SCN5A_ENST00000451551.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000450102.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000449557.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000414099.2_Missense_Mutation_p.D1960H|SCN5A_ENST00000425664.1_Missense_Mutation_p.D1960H|SCN5A_ENST00000423572.2_Missense_Mutation_p.D1977H	p.D1978H	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)	28	6125	-	Medulloblastoma(35;0.163)		1978					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.5932G>C	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.565807	0.65651	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96856	-4.02;-4.03;-4.03;-4.08;-4.03;-4.02;-4.03;-4.15;-4.08;-4.08	4.95	4.95	0.65309	.	0.058474	0.64402	D	0.000003	D	0.95529	0.8547	N	0.08118	0	0.54753	D	0.999986	D;D;P;D;D;D	0.89917	0.959;1.0;0.64;0.999;0.958;1.0	P;D;B;D;P;D	0.85130	0.496;0.997;0.387;0.973;0.693;0.996	D	0.97067	0.9775	10	0.62326	D	0.03	.	18.3714	0.90408	0.0:1.0:0.0:0.0	.	1924;1945;1960;1978;1977;1978	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	H	1960;1977;1978;1924;1977;1960;1978;1945;1924;1924	ENSP00000398962:D1960H;ENSP00000398266:D1977H;ENSP00000410257:D1978H;ENSP00000388797:D1924H;ENSP00000397915:D1977H;ENSP00000416634:D1960H;ENSP00000328968:D1978H;ENSP00000399524:D1945H;ENSP00000403355:D1924H;ENSP00000413996:D1924H	ENSP00000328968:D1978H	D	-	1	0	SCN5A	38566935	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	4.781000	0.62389	2.573000	0.86826	0.655000	0.94253	GAC		0.602	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		3	68	0	0	0	1	0	3	68					G	38591931	C	G	38591931	3	3	417	1	0	0	0	0	1	0	0	0	13922	826	29	4	122	4	SCN5A	3	38591931	Missense_Mutation	SNP	C	TCGA-FK-A3S3-01A-11D-A22D-08		38591931	159430499	4	8520											
NCK1	4690	broad.mit.edu	37	chr3	136646925	136646925	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggacatcaagaagaatgagAgattatggcttctggatgat	12	4	2	5			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr3:136646925A>G	ENST00000481752.1	+	2	246	c.82A>G	c.(82-84)Aga>Gga	p.R28G	NCK1_ENST00000288986.2_Missense_Mutation_p.R28G|NCK1_ENST00000469404.1_5'Flank			P16333	NCK1_HUMAN	NCK adaptor protein 1	28	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|response to other organism (GO:0051707)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|protein kinase inhibitor activity (GO:0004860)|receptor binding (GO:0005102)|receptor signaling complex scaffold activity (GO:0030159)|receptor tyrosine kinase binding (GO:0030971)			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						GAAGAATGAGAGATTATGGCT	0.418																																						ENST00000481752.1																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(82-84)Aga>Gga		NCK adaptor protein 1							129	119	122					3																	136646925		2203	4300	6503	SO:0001583	missense	4690				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity	g.chr3:136646925A>G	X17576	CCDS3092.1, CCDS54644.1	3q21	2013-02-14			ENSG00000158092	ENSG00000158092		"SH2 domain containing"	7664	protein-coding gene	gene with protein product		600508		NCK		7806213, 9737977	Standard	XM_005247498		Approved	NCKalpha	uc003erh.3	P16333	OTTHUMG00000159781	ENST00000481752.1:c.82A>G	3.37:g.136646925A>G	ENSP00000417273:p.Arg28Gly					NCK1_ENST00000288986.2_Missense_Mutation_p.R28G	p.R28G			P16333	NCK1_HUMAN			2	246	+			28			SH3 1.		B7Z751|D3DNE3	Missense_Mutation	SNP	ENST00000481752.1	37	c.82A>G	CCDS3092.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.919631	0.73098	.	.	ENSG00000158092	ENST00000288986;ENST00000481752;ENST00000491539;ENST00000485096;ENST00000476286;ENST00000488930	T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79	5.98	4.8	0.61643	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.72953	0.3525	M	0.93594	3.435	0.80722	D	1	D	0.56746	0.977	D	0.67231	0.95	T	0.76756	-0.2842	10	0.51188	T	0.08	-8.0274	10.3723	0.44062	0.6833:0.3167:0.0:0.0	.	28	P16333	NCK1_HUMAN	G	28	ENSP00000288986:R28G;ENSP00000417273:R28G;ENSP00000419302:R28G;ENSP00000419677:R28G;ENSP00000418513:R28G;ENSP00000417729:R28G	ENSP00000288986:R28G	R	+	1	2	NCK1	138129615	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.122000	0.57910	1.036000	0.39998	0.533000	0.62120	AGA		0.418	NCK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357307.1	NM_006153		36	52	0	0	0	1	0	36	52					G	136646925	A	G	136646925	3	3	417	1	0	0	0	0	1	0	0	0	10219	296	11	3	84	3	NCK1	3	136646925	Missense_Mutation	SNP	A	TCGA-FK-A3S3-01A-11D-A22D-08	98054994	136646925	61375505	5	8521											
CCDC96	257236	broad.mit.edu	37	chr4	7043726	7043726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcttctcctggcactgccGcttcaactggcccagctcct	9	17	2	0	rs200146451		TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr4:7043726G>A	ENST00000310085.4	-	1	1002	c.940C>T	c.(940-942)Cgg>Tgg	p.R314W	TADA2B_ENST00000310074.7_5'Flank|RP11-367J11.2_ENST00000500031.1_RNA|TADA2B_ENST00000512388.1_5'Flank	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	314										endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						TGGCACTGCCGCTTCAACTGG	0.617																																						ENST00000310085.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						c.(940-942)Cgg>Tgg		coiled-coil domain containing 96							77	80	79					4																	7043726		2202	4300	6502	SO:0001583	missense	257236							g.chr4:7043726G>A	AK075056	CCDS3395.1	4p16.1	2008-02-05			ENSG00000173013	ENSG00000173013			26900	protein-coding gene	gene with protein product							Standard	NM_153376		Approved	FLJ90575	uc003gjv.2	Q2M329	OTTHUMG00000125511	ENST00000310085.4:c.940C>T	4.37:g.7043726G>A	ENSP00000309285:p.Arg314Trp					RP11-367J11.2_ENST00000500031.1_RNA	p.R314W	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN			1	1002	-			314					Q8N2I7	Missense_Mutation	SNP	ENST00000310085.4	37	c.940C>T	CCDS3395.1	.	.	.	.	.	.	.	.	.	.	G	6.624	0.483613	0.12581	.	.	ENSG00000173013	ENST00000310085	T	0.45276	0.9	3.89	0.865	0.19074	.	0.733045	0.12027	N	0.506360	T	0.21590	0.0520	N	0.08118	0	0.41440	D	0.987917	D	0.54207	0.965	B	0.41299	0.353	T	0.04229	-1.0967	10	0.72032	D	0.01	-14.7618	7.5905	0.28019	0.0:0.3534:0.2231:0.4236	.	314	Q2M329	CCD96_HUMAN	W	314	ENSP00000309285:R314W	ENSP00000309285:R314W	R	-	1	2	CCDC96	7094627	0.012000	0.17670	0.772000	0.31596	0.023000	0.10783	-0.006000	0.12833	-0.058000	0.13177	-0.521000	0.04368	CGG		0.617	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246838.1	NM_153376		4	229	0	0	0	1	0	4	229					A	7043726	G	A	7043726	3	1	417	1	0	0	0	0	1	0	0	0	2874	1086	38	1	731	1	CCDC96	4	7043726	Missense_Mutation	SNP	G	TCGA-FK-A3S3-01A-11D-A22D-08		7043726	184110550	6	8522											
SPEF2	79925	broad.mit.edu	37	chr5	35700753	35700753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacattggctattgatcctgCgacttccaaagaaatacctc	6	12	0	2			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr5:35700753C>T	ENST00000356031.3	+	16	2451	c.2297C>T	c.(2296-2298)gCg>gTg	p.A766V	SPEF2_ENST00000509059.1_Missense_Mutation_p.A761V|SPEF2_ENST00000440995.2_Missense_Mutation_p.A761V|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	766					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATTGATCCTGCGACTTCCAAA	0.383																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(2281-2283)gCg>gTg		sperm flagellar 2							148	130	136					5																	35700753		1840	4088	5928	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35700753C>T	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.2297C>T	5.37:g.35700753C>T	ENSP00000348314:p.Ala766Val					SPEF2_ENST00000356031.3_Missense_Mutation_p.A766V|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Missense_Mutation_p.A761V	p.A761V			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		16	2282	+	all_lung(31;7.56e-05)		766					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.2282C>T	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	C	5.236	0.229059	0.09916	.	.	ENSG00000152582	ENST00000356031;ENST00000509059;ENST00000440995;ENST00000504054	T;T;T;T	0.31510	3.38;3.23;3.37;1.49	5.67	2.93	0.34026	.	0.575006	0.18100	N	0.151701	T	0.15825	0.0381	N	0.12182	0.205	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.0;0.002;0.0	T	0.18967	-1.0320	10	0.37606	T	0.19	.	7.2126	0.25941	0.0:0.5939:0.2605:0.1456	.	761;761;766	D6REZ4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	V	766;761;761;272	ENSP00000348314:A766V;ENSP00000421593:A761V;ENSP00000412125:A761V;ENSP00000421744:A272V	ENSP00000348314:A766V	A	+	2	0	SPEF2	35736510	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.085000	0.11250	0.326000	0.23384	-0.244000	0.11960	GCG		0.383	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		3	68	0	0	0	1	0	3	68					T	35700753	C	T	35700753	3	4	417	1	0	0	0	0	1	0	0	0	15034	768	27	1	2380	1	SPEF2	5	35700753	Missense_Mutation	SNP	C	TCGA-FK-A3S3-01A-11D-A22D-08		35700753	145214507	7	8523											
IL13	3596	broad.mit.edu	37	chr5	131995905	131995905	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccgagacaccaaaatcgaGgtggcccagtttgtaaagga	12	9	0	1			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr5:131995905G>A	ENST00000304506.3	+	4	386	c.372G>A	c.(370-372)gaG>gaA	p.E124E	AC004041.2_ENST00000435042.1_RNA|IL13_ENST00000468334.1_3'UTR	NM_002188.2	NP_002179.2	P35225	IL13_HUMAN	interleukin 13	124					cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|cellular response to cytokine stimulus (GO:0071345)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of lung ciliated cell differentiation (GO:1901247)|negative regulation of transforming growth factor beta production (GO:0071635)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of connective tissue growth factor production (GO:0032723)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of lung goblet cell differentiation (GO:1901251)|positive regulation of macrophage activation (GO:0043032)|positive regulation of pancreatic stellate cell proliferation (GO:2000231)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat6 protein (GO:0042526)|regulation of proton transport (GO:0010155)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			large_intestine(1)|lung(1)|ovary(1)|skin(3)	6		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCAAAATCGAGGTGGCCCAGT	0.478																																						ENST00000304506.3																			0				large_intestine(1)|lung(1)|ovary(1)|skin(3)	6						c.(370-372)gaG>gaA		interleukin 13							94	88	90					5																	131995905		2203	4300	6503	SO:0001819	synonymous_variant	3596				cellular component movement|immune response|inflammatory response|signal transduction	extracellular space|soluble fraction	cytokine activity	g.chr5:131995905G>A	U31120	CCDS4157.1	5q31	2011-07-14			ENSG00000169194	ENSG00000169194		"Interleukins and interleukin receptors"	5973	protein-coding gene	gene with protein product	"allergic rhinitis", "Bronchial hyperresponsiveness-1 (bronchial asthma)"	147683					Standard	NM_002188		Approved	P600, IL-13, ALRH, BHR1, MGC116786, MGC116788, MGC116789	uc003kxj.1	P35225	OTTHUMG00000059723	ENST00000304506.3:c.372G>A	5.37:g.131995905G>A						IL13_ENST00000468334.1_3'UTR|AC004041.2_ENST00000435042.1_RNA	p.E124E	NM_002188.2	NP_002179.2	P35225	IL13_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	386	+		all_cancers(142;0.0751)|Breast(839;0.198)	124					O43644|Q4VB52|Q9UDC7	Silent	SNP	ENST00000304506.3	37	c.372G>A	CCDS4157.1																																																																																				0.478	IL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132782.1	NM_002188		3	56	0	0	0	1	0	3	56					A	131995905	G	A	131995905	2	1	417	1	0	0	0	0	0	0	0	1	7628	991	35	2		2	IL13	5	131995905	Silent	SNP	G	TCGA-FK-A3S3-01A-11D-A22D-08	96295152	131995905	48919355	8	8524											
TMC1	117531	broad.mit.edu	37	chr9	75445596	75445596	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaatggcagctgcacgagCaggttggagatacgtttatg	14	6	0	1			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr9:75445596C>T	ENST00000297784.5	+	23	2798	c.2258C>T	c.(2257-2259)gCa>gTa	p.A753V	TMC1_ENST00000396237.3_Missense_Mutation_p.A753V|TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000340019.3_Missense_Mutation_p.A753V	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	753	Poly-Ala.				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						GCTGCACGAGCAGGTTGGAGA	0.323																																					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.(2257-2259)gCa>gTa		transmembrane channel-like 1							79	87	85					9																	75445596		2203	4300	6503	SO:0001583	missense	117531				sensory perception of sound	integral to membrane		g.chr9:75445596C>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.2258C>T	9.37:g.75445596C>T	ENSP00000297784:p.Ala753Val					TMC1_ENST00000340019.3_Missense_Mutation_p.A753V|TMC1_ENST00000396237.3_Missense_Mutation_p.A753V|TMC1_ENST00000486417.1_3'UTR	p.A753V	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN			23	2798	+			753			Poly-Ala.		A8MVZ2|B1AM91	Missense_Mutation	SNP	ENST00000297784.5	37	c.2258C>T	CCDS6643.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.673001	0.67928	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000537917;ENST00000542143;ENST00000396237	T;T;T	0.67523	-0.27;-0.27;-0.27	5.07	5.07	0.68467	.	0.174294	0.39985	N	0.001204	T	0.48314	0.1493	N	0.12182	0.205	0.40811	D	0.983425	P	0.47762	0.9	B	0.37387	0.248	T	0.55231	-0.8173	10	0.37606	T	0.19	-20.9557	17.9798	0.89137	0.0:1.0:0.0:0.0	.	753	Q8TDI8	TMC1_HUMAN	V	753;753;720;747;753	ENSP00000297784:A753V;ENSP00000341433:A753V;ENSP00000379538:A753V	ENSP00000297784:A753V	A	+	2	0	TMC1	74635416	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	4.382000	0.59594	2.790000	0.95986	0.650000	0.86243	GCA		0.323	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			8	20	0	0	0	1	0	8	20					T	75445596	C	T	75445596	3	4	417	1	0	0	0	0	1	0	0	0	15981	710	25	2	2332	2	TMC1	9	75445596	Missense_Mutation	SNP	C	TCGA-FK-A3S3-01A-11D-A22D-08		75445596	65767835	9	8525											
ANKRD26	22852	broad.mit.edu	37	chr10	27332479	27332479	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcaacatcatccatagaCtgtatttggtttttgaccta	5	9	3	2			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr10:27332479C>T	ENST00000376087.4	-	20	2202	c.2037G>A	c.(2035-2037)caG>caA	p.Q679Q	ANKRD26_ENST00000376070.3_Silent_p.Q236Q|ANKRD26_ENST00000436985.2_Silent_p.Q695Q	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	678					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						CATCCATAGACTGTATTTGGT	0.348																																						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.(2035-2037)caG>caA		ankyrin repeat domain 26							77	71	73					10																	27332479		1843	4082	5925	SO:0001819	synonymous_variant	22852					centrosome		g.chr10:27332479C>T	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.2037G>A	10.37:g.27332479C>T						ANKRD26_ENST00000436985.2_Silent_p.Q695Q|ANKRD26_ENST00000376070.3_Silent_p.Q236Q	p.Q679Q	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN			20	2202	-			678					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Silent	SNP	ENST00000376087.4	37	c.2037G>A	CCDS41499.1																																																																																				0.348	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			13	22	0	0	0	1	0	13	22					T	27332479	C	T	27332479	2	4	417	1	0	0	0	0	0	0	0	1	654	564	20	2		2	ANKRD26	10	27332479	Silent	SNP	C	TCGA-FK-A3S3-01A-11D-A22D-08		27332479	108202268	10	8526											
NLRP6	171389	broad.mit.edu	37	chr11	281566	281566	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagccagaggaggaggaggAgggagaggagcccaactacc	18	8	0	3			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr11:281566A>G	ENST00000312165.5	+	4	1832	c.1832A>G	c.(1831-1833)gAg>gGg	p.E611G	NLRP6_ENST00000534750.1_Missense_Mutation_p.E611G	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGGAGGAGGAGGGAGAGGAG	0.662																																						ENST00000534750.1																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(1831-1833)gAg>gGg		NLR family, pyrin domain containing 6							76	89	84					11																	281566		2203	4299	6502	SO:0001583	missense	171389					cytoplasm	ATP binding	g.chr11:281566A>G	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"Nucleotide-binding domain and leucine rich repeat containing"	22944	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"	609650	"NACHT, leucine rich repeat and PYD containing 6"	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1832A>G	11.37:g.281566A>G	ENSP00000309767:p.Glu611Gly					NLRP6_ENST00000312165.5_Missense_Mutation_p.E611G	p.E611G	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	2037	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	611			Poly-Glu.		A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	c.1832A>G	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.454845	0.26161	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.75367	-0.93;-0.9	3.22	3.22	0.36961	.	0.671525	0.12247	N	0.485944	T	0.80204	0.4580	L	0.57536	1.79	0.32256	N	0.570815	D;D	0.71674	0.998;0.998	D;D	0.72982	0.979;0.979	T	0.76013	-0.3114	10	0.21540	T	0.41	.	8.1671	0.31233	1.0:0.0:0.0:0.0	.	611;611	E9PJZ8;P59044	.;NALP6_HUMAN	G	611	ENSP00000433617:E611G;ENSP00000309767:E611G	ENSP00000309767:E611G	E	+	2	0	NLRP6	271566	0.811000	0.29063	0.618000	0.29105	0.573000	0.36030	0.753000	0.26376	1.704000	0.51252	0.379000	0.24179	GAG		0.662	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		5	198	0	0	0	1	0	5	198					G	281566	A	G	281566	3	3	417	1	0	0	0	0	1	0	0	0	10481	304	11	3	1846	3	NLRP6	11	281566	Missense_Mutation	SNP	A	TCGA-FK-A3S3-01A-11D-A22D-08		281566	134724950	11	8527											
SSH3	54961	broad.mit.edu	37	chr11	67076991	67076991	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccgcactggaaggagacGcaccgcttcattgaggctgc	13	13	1	2	rs149398055		TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr11:67076991G>A	ENST00000308127.4	+	11	1363	c.1185G>A	c.(1183-1185)acG>acA	p.T395T	SSH3_ENST00000376757.5_Silent_p.T395T|SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000308298.7_Intron	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	395	Tyrosine-protein phosphatase.				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)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GGAAGGAGACGCACCGCTTCA	0.637													G|||	1	0.000199681	0	0	5008	,	,		21759	0		0.001	False		,,,				2504	0					ENST00000308127.4																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1183-1185)acG>acA		slingshot protein phosphatase 3		G		0,4400		0,0,2200	69	60	63		1185	-8.4	0.4	11	dbSNP_134	63	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous	SSH3	NM_017857.3		0,1,6494	AA,AG,GG		0.0116,0.0,0.0077		395/660	67076991	1,12989	2200	4295	6495	SO:0001819	synonymous_variant	54961				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:67076991G>A	AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30581	protein-coding gene	gene with protein product		606780	"slingshot homolog 3 (Drosophila)"			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.1185G>A	11.37:g.67076991G>A						SSH3_ENST00000308298.7_Intron|SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000376757.5_Silent_p.T395T	p.T395T	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		11	1363	+			395			Tyrosine-protein phosphatase.		Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Silent	SNP	ENST00000308127.4	37	c.1185G>A	CCDS8157.1																																																																																				0.637	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1	NM_018276		3	55	0	0	0	1	0	3	55					A	67076991	G	A	67076991	2	1	417	1	0	0	0	0	0	0	0	1	15185	1074	38	1		1	SSH3	11	67076991	Silent	SNP	G	TCGA-FK-A3S3-01A-11D-A22D-08	66795425	67076991	67929525	12	8528											
SFRS2IP	9169	broad.mit.edu	37	chr12	46322574	46322574	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgatcctctggtatttgatgTaccagaagtttgcttctttt	8	7	2	3			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr12:46322574T>A	ENST00000369367.3	-	11	1143	c.910A>T	c.(910-912)Aca>Tca	p.T304S	SCAF11_ENST00000549162.1_Missense_Mutation_p.T112S|SCAF11_ENST00000419565.2_Missense_Mutation_p.T304S|SCAF11_ENST00000465950.1_5'UTR	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	304					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GTATTTGATGTACCAGAAGTT	0.378																																						ENST00000369367.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(910-912)Aca>Tca		SR-related CTD-associated factor 11							136	135	135					12																	46322574		2203	4300	6503	SO:0001583	missense	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46322574T>A	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"RING-type (C3HC4) zinc fingers"	10784	protein-coding gene	gene with protein product		603668	"splicing factor, arginine/serine-rich 2, interacting protein", "serine/arginine-rich splicing factor 2, interacting protein"	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.910A>T	12.37:g.46322574T>A	ENSP00000358374:p.Thr304Ser					SCAF11_ENST00000465950.1_5'UTR|SCAF11_ENST00000549162.1_Missense_Mutation_p.T112S|SCAF11_ENST00000419565.2_Missense_Mutation_p.T304S	p.T304S	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN			11	1143	-			304					A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	c.910A>T	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	T	16.87	3.241894	0.58995	.	.	ENSG00000139218	ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T	0.40756	1.02;1.28;1.02;1.02	6.07	0.578	0.17391	.	0.159035	0.29046	U	0.013318	T	0.25644	0.0624	L	0.32530	0.975	0.19775	N	0.99996	B;B	0.26081	0.141;0.028	B;B	0.30495	0.116;0.008	T	0.16867	-1.0388	10	0.19590	T	0.45	-2.1632	4.2341	0.10616	0.2434:0.2833:0.0:0.4734	.	112;304	F8VXG7;Q99590	.;SCAFB_HUMAN	S	304;112;304;244	ENSP00000358374:T304S;ENSP00000448864:T112S;ENSP00000413036:T304S;ENSP00000446746:T244S	ENSP00000358374:T304S	T	-	1	0	SCAF11	44608841	0.972000	0.33761	0.184000	0.23157	0.995000	0.86356	0.692000	0.25482	-0.114000	0.11936	0.477000	0.44152	ACA		0.378	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		8	135	0	0	0	1	0	8	135					A	46322574	T	A	46322574	3	1	417	1	0	0	0	0	1	0	0	0	14177	1638	57	5	3501	5	SFRS2IP	12	46322574	Missense_Mutation	SNP	T	TCGA-FK-A3S3-01A-11D-A22D-08		46322574	87529321	13	8529											
TRPM1	4308	broad.mit.edu	37	chr15	31327829	31327829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacggccagccatccatccGcaccaggatgacgtagttaa	11	13	0	1			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr15:31327829G>A	ENST00000256552.6	-	21	2767	c.2620C>T	c.(2620-2622)Cgg>Tgg	p.R874W	TRPM1_ENST00000542188.1_Missense_Mutation_p.R891W|RP11-348B17.1_ENST00000561299.1_RNA|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.R852W	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CCATCCATCCGCACCAGGATG	0.517																																						ENST00000542188.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(2671-2673)Cgg>Tgg		transient receptor potential cation channel, subfamily M, member 1							106	108	107					15																	31327829		2020	4190	6210	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31327829G>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.2620C>T	15.37:g.31327829G>A	ENSP00000256552:p.Arg874Trp					RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.R852W|TRPM1_ENST00000256552.6_Missense_Mutation_p.R874W|RP11-348B17.1_ENST00000561299.1_RNA	p.R891W	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	20	2984	-		all_lung(180;1.92e-11)	852						Missense_Mutation	SNP	ENST00000256552.6	37	c.2671C>T	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.958305	0.73902	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.63417	-0.04;-0.04;-0.04	5.57	2.3	0.28687	.	0.059435	0.64402	D	0.000004	T	0.69205	0.3085	L	0.49126	1.545	0.39695	D	0.971101	D;D	0.76494	0.999;0.997	D;P	0.63957	0.92;0.834	T	0.71896	-0.4454	10	0.87932	D	0	-24.182	10.9168	0.47142	0.0:0.1002:0.5454:0.3544	.	846;852	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	W	852;891;874;852	ENSP00000380897:R852W;ENSP00000437849:R891W;ENSP00000256552:R874W	ENSP00000256552:R874W	R	-	1	2	TRPM1	29115121	1.000000	0.71417	1.000000	0.80357	0.538000	0.34931	3.415000	0.52700	0.678000	0.31325	0.655000	0.94253	CGG		0.517	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		4	116	0	0	0	1	0	4	116					A	31327829	G	A	31327829	3	1	417	1	0	0	0	0	1	0	0	0	16582	1086	38	1	2289	1	TRPM1	15	31327829	Missense_Mutation	SNP	G	TCGA-FK-A3S3-01A-11D-A22D-08		31327829	71203563	14	8530											
MYO5C	55930	broad.mit.edu	37	chr15	52521333	52521333	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cgtgagagccgctctaccttGacctgcttgctcaggcgggc	13	14	2	2			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr15:52521333G>C	ENST00000261839.7	-	25	3365	c.3204C>G	c.(3202-3204)gtC>gtG	p.V1068V		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1068						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GCTCTACCTTGACCTGCTTGC	0.532																																						ENST00000261839.7																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(3202-3204)gtC>gtG		myosin VC							131	133	132					15																	52521333		1957	4129	6086	SO:0001819	synonymous_variant	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52521333G>C	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"Myosins / Myosin superfamily : Class V"	7604	protein-coding gene	gene with protein product	"myosin 5C"	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.3204C>G	15.37:g.52521333G>C							p.V1068V	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	25	3365	-			1068					Q6P1W8	Silent	SNP	ENST00000261839.7	37	c.3204C>G	CCDS42036.1																																																																																				0.532	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		80	162	0	0	0	1	0	80	162					C	52521333	G	C	52521333	2	2	417	1	0	0	0	0	0	0	0	1	10080	1277	45	4		4	MYO5C	15	52521333	Silent	SNP	G	TCGA-FK-A3S3-01A-11D-A22D-08	21193504	52521333	50010059	15	8531											
NOX5	79400	broad.mit.edu	37	chr15	69327795	69327795	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttccaccagcttatgggctaCgtggtagtggggctgtccct	13	11	0	0			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr15:69327795C>G	ENST00000388866.3	+	6	998	c.957C>G	c.(955-957)taC>taG	p.Y319*	NOX5_ENST00000455873.3_Nonsense_Mutation_p.Y284*|NOX5_ENST00000448182.3_Nonsense_Mutation_p.Y273*|RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000260364.5_Nonsense_Mutation_p.Y301*|NOX5_ENST00000530406.2_Nonsense_Mutation_p.Y291*	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	319	Ferric oxidoreductase.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TTATGGGCTACGTGGTAGTGG	0.607																																						ENST00000260364.5																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(901-903)taC>taG		NADPH oxidase, EF-hand calcium binding domain 5							102	68	79					15																	69327795		2200	4298	6498	SO:0001587	stop_gained	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69327795C>G	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"EF-hand domain containing"	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.957C>G	15.37:g.69327795C>G	ENSP00000373518:p.Tyr319*					NOX5_ENST00000455873.3_Nonsense_Mutation_p.Y284*|NOX5_ENST00000388866.3_Nonsense_Mutation_p.Y319*|NOX5_ENST00000530406.2_Nonsense_Mutation_p.Y291*|NOX5_ENST00000448182.3_Nonsense_Mutation_p.Y273*	p.Y301*			Q96PH1	NOX5_HUMAN			7	1204	+			319			Ferric oxidoreductase.		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Nonsense_Mutation	SNP	ENST00000388866.3	37	c.903C>G	CCDS32276.2	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945914	0.53079	.	.	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	.	.	.	3.44	-3.36	0.04913	.	0.322034	0.29767	N	0.011257	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.502	6.4084	0.21678	0.0:0.3975:0.1299:0.4726	.	.	.	.	X	284;301;319;291	.	ENSP00000373518:Y319X	Y	+	3	2	NOX5	67114849	0.971000	0.33674	0.763000	0.31416	0.509000	0.34042	0.022000	0.13511	-0.701000	0.05063	-0.672000	0.03802	TAC		0.607	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		3	90	0	0	0	1	0	3	90					G	69327795	C	G	69327795	4	3	417	1	0	0	0	0	0	1	0	0	10559	547	19	4	1012	4	NOX5	15	69327795	Nonsense_Mutation	SNP	C	TCGA-FK-A3S3-01A-11D-A22D-08	16806462	69327795	33203597	16	8532											
SYNM	23336	broad.mit.edu	37	chr15	99673013	99673013	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaggaagcgggagctctcgGtgtgtctgaccgtggttcct	15	10	2	1			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr15:99673013G>T	ENST00000560674.1	+	5	3123	c.2654G>T	c.(2653-2655)gGt>gTt	p.G885V	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000328642.7_Missense_Mutation_p.G1170V|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000336292.6_Missense_Mutation_p.G1482V			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1483	Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GGAGCTCTCGGTGTGTCTGAC	0.572																																					Pancreas(125;1071 1762 21750 40003 40381)	ENST00000336292.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						c.(4444-4446)gGt>gTt		synemin, intermediate filament protein							141	147	145					15																	99673013		2028	4184	6212	SO:0001583	missense	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99673013G>T	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"A-kinase anchor proteins", "Intermediate filaments type IV"	24466	protein-coding gene	gene with protein product	"synemin alpha", "synemin beta"	606087	"desmuslin"	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.2654G>T	15.37:g.99673013G>T	ENSP00000453040:p.Gly885Val					SYNM_ENST00000560674.1_Missense_Mutation_p.G885V|SYNM_ENST00000328642.7_Missense_Mutation_p.G1170V|SYNM_ENST00000561323.1_3'UTR	p.G1482V	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN			5	4565	+			1483			Interaction with DMD and UTRN.|Tail.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	ENST00000560674.1	37	c.4445G>T		.	.	.	.	.	.	.	.	.	.	G	7.361	0.624904	0.14193	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	T;D	0.81821	2.31;-1.54	4.6	2.51	0.30379	.	.	.	.	.	T	0.71888	0.3393	.	.	.	0.09310	N	1	P;B	0.38922	0.651;0.267	B;B	0.35859	0.212;0.023	T	0.63386	-0.6649	8	0.72032	D	0.01	.	9.0276	0.36239	0.091:0.0:0.7315:0.1776	.	1483;1170	O15061;C9JIE4	SYNEM_HUMAN;.	V	1482;1170	ENSP00000336775:G1482V;ENSP00000330469:G1170V	ENSP00000330469:G1170V	G	+	2	0	SYNM	97490536	0.000000	0.05858	0.001000	0.08648	0.227000	0.25037	0.071000	0.14594	0.919000	0.36945	0.561000	0.74099	GGT		0.572	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	NM_145728		5	247	1	0	0.0381472	1	0.0381472	5	247					T	99673013	G	T	99673013	3	4	417	1	0	0	0	0	1	0	0	0	15452	1261	44	4	4461	4	SYNM	15	99673013	Missense_Mutation	SNP	G	TCGA-FK-A3S3-01A-11D-A22D-08	30345218	99673013	2858379	17	8533											
EME2	197342	broad.mit.edu	37	chr16	1824298	1824300	+	In_Frame_Del	DEL	TGC	TGC	-													ggctgcaggtgaacaggaatTgctgctgctgctggagcccg							TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr16:1824298_1824300delTGC	ENST00000568449.1	+	3	443_445	c.422_424delTGC	c.(421-426)ttgctg>ttg	p.141_142LL>L	EME2_ENST00000307394.7_In_Frame_Del_p.141_142LL>L|NME3_ENST00000563498.1_5'Flank|MRPS34_ENST00000397375.2_5'Flank|NME3_ENST00000219302.3_5'Flank|MRPS34_ENST00000177742.3_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	141					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GAACAGGAATTGCTGCTGCTGCT	0.655								Direct reversal of damage;Homologous recombination																														ENST00000307394.7																			0				central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						c.(421-426)ttg>t	Direct reversal of damage;Homologous recombination	essential meiotic structure-specific endonuclease subunit 2																																				SO:0001651	inframe_deletion	197342				DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity	g.chr16:1824298_1824300delTGC	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"	610886	"essential meiotic endonuclease 1 homolog 2 (S. pombe)"			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.422_424delTGC	16.37:g.1824307_1824309delTGC	ENSP00000457353:p.Leu145del					EME2_ENST00000568449.1_In_Frame_Del_p.LL143del	p.LL143del			A4GXA9	EME2_HUMAN			3	422_424	+			143					Q8TEP2|Q96RY3	In_Frame_Del	DEL	ENST00000568449.1	37	c.422_424delTGC	CCDS58404.1																																																																																				0.655	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		7	196						7	196	---	---	---	---	-	1824300	TGC	-	1824298	7	5	417	1	0	1	0	1	0	0	0	0	5089	1821	63	0	432	0	EME2	16	1824298	In_Frame_Del	DEL	TGC	TCGA-FK-A3S3-01A-11D-A22D-08		1824298	88530455	18	8534											
DPH1	1801	broad.mit.edu	37	chr17	1944859	1944859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccttggggccctggacgGtgaaccacggccaggaccgc	15	15	0	1			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr17:1944859G>A	ENST00000263083.6	+	11	1231	c.1186G>A	c.(1186-1188)Gtg>Atg	p.V396M	RP11-667K14.4_ENST00000572404.1_RNA|RP11-667K14.3_ENST00000572790.1_lincRNA|OVCA2_ENST00000572195.1_5'Flank|DPH1_ENST00000570477.1_Missense_Mutation_p.V316M	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	396					cell proliferation (GO:0008283)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						GCCCTGGACGGTGAACCACGG	0.731																																						ENST00000263083.6																			0				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						c.(1186-1188)Gtg>Atg		diphthamide biosynthesis 1							25	27	26					17																	1944859		1903	4102	6005	SO:0001583	missense	1801				peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus		g.chr17:1944859G>A	S81752	CCDS42228.1	17p13.3	2013-05-02	2013-05-02	2005-06-03	ENSG00000108963	ENSG00000108963			3003	protein-coding gene	gene with protein product	"ovarian tumor suppressor candidate 1"	603527	"diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae)", "DPH-like 1 (S. cerevisiae)", "DPH1 homolog (S. cerevisiae)"	DPH2L, DPH2L1		8603384, 15485916, 22869748	Standard	NM_001383		Approved	OVCA1	uc002fts.3	Q9BZG8	OTTHUMG00000177724	ENST00000263083.6:c.1186G>A	17.37:g.1944859G>A	ENSP00000263083:p.Val396Met					DPH1_ENST00000570477.1_Missense_Mutation_p.V316M	p.V396M	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN			11	1231	+			396					D3DTI3|Q16439|Q4VBA2|Q9BTW7|Q9UCY0	Missense_Mutation	SNP	ENST00000263083.6	37	c.1186G>A	CCDS42228.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555206	0.65425	.	.	ENSG00000108963	ENST00000263083	T	0.32272	1.46	5.68	5.68	0.88126	.	0.294054	0.33040	N	0.005348	T	0.33089	0.0851	L	0.55481	1.735	0.30411	N	0.779062	B;B;B	0.33135	0.399;0.215;0.215	B;B;B	0.32465	0.101;0.146;0.101	T	0.35574	-0.9783	10	0.51188	T	0.08	-18.4066	16.9416	0.86219	0.0:0.0:1.0:0.0	.	406;406;396	E7ENH3;B4DNK0;Q9BZG8	.;.;DPH1_HUMAN	M	396	ENSP00000263083:V396M	ENSP00000263083:V396M	V	+	1	0	DPH1	1891609	1.000000	0.71417	0.970000	0.41538	0.863000	0.49368	3.973000	0.56845	2.684000	0.91462	0.555000	0.69702	GTG		0.731	DPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438660.1	NM_001383		3	57	0	0	0	1	0	3	57					A	1944859	G	A	1944859	3	1	417	1	0	0	0	0	1	0	0	0	4719	1261	44	2	1228	2	DPH1	17	1944859	Missense_Mutation	SNP	G	TCGA-FK-A3S3-01A-11D-A22D-08		1944859	79250351	19	8535											
UBB	7314	broad.mit.edu	37	chr17	16285491	16285491	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaccggcaagaccatcacCctggaagtggagcccagtga	12	13	1	3	rs16962973		TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr17:16285491C>T	ENST00000395837.1	+	2	451	c.270C>T	c.(268-270)acC>acT	p.T90T	RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000302182.3_Silent_p.T90T|UBB_ENST00000535788.1_Intron|UBB_ENST00000578649.1_Intron|UBB_ENST00000395839.1_Silent_p.T90T	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	90	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|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)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|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)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|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)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AGACCATCACCCTGGAAGTGG	0.552																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(268-270)acC>acT		ubiquitin B							75	76	75					17																	16285491		2203	4297	6500	SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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 ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285491C>T		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.270C>T	17.37:g.16285491C>T						UBB_ENST00000395837.1_Silent_p.T90T|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395839.1_Silent_p.T90T|UBB_ENST00000535788.1_Intron|UBB_ENST00000578649.1_Intron	p.T90T	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	662	+			90			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.270C>T	CCDS11177.1																																																																																				0.552	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		3	109	0	0	0	1	0	3	109					T	16285491	C	T	16285491	2	4	417	1	0	0	0	0	0	0	0	1	16838	610	22	2		2	UBB	17	16285491	Silent	SNP	C	TCGA-FK-A3S3-01A-11D-A22D-08	14340632	16285491	64909719	20	8536											
SUPT6H	6830	broad.mit.edu	37	chr17	27024043	27024043	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccagcatgtggatgtgcgGgaggagggcaaggaaaatgc	17	6	0	0			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr17:27024043G>A	ENST00000314616.6	+	30	4435	c.4152G>A	c.(4150-4152)cgG>cgA	p.R1384R	SUPT6H_ENST00000347486.4_Silent_p.R1384R	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1384	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TGGATGTGCGGGAGGAGGGCA	0.572																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4150-4152)cgG>cgA		suppressor of Ty 6 homolog (S. cerevisiae)							112	89	97					17																	27024043		2203	4300	6503	SO:0001819	synonymous_variant	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27024043G>A	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.4152G>A	17.37:g.27024043G>A						SUPT6H_ENST00000347486.4_Silent_p.R1384R	p.R1384R	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			30	4435	+	Lung NSC(42;0.00431)		1384			SH2.		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP	ENST00000314616.6	37	c.4152G>A	CCDS32596.1																																																																																				0.572	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		3	118	0	0	0	1	0	3	118					A	27024043	G	A	27024043	2	1	417	1	0	0	0	0	0	0	0	1	15397	1219	43	2		2	SUPT6H	17	27024043	Silent	SNP	G	TCGA-FK-A3S3-01A-11D-A22D-08	10738552	27024043	54171167	21	8537											
LONP1	9361	broad.mit.edu	37	chr19	5699184	5699184	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaggatcttgccctgggtGgagccgcggagctggctaac	16	11	1	1	rs202108466		TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr19:5699184G>A	ENST00000360614.3	-	10	1696	c.1539C>T	c.(1537-1539)tcC>tcT	p.S513S	LONP1_ENST00000585374.1_Silent_p.S399S|LONP1_ENST00000540670.2_Silent_p.S317S|LONP1_ENST00000590729.1_Silent_p.S383S|LONP1_ENST00000593119.1_Silent_p.S449S	NM_004793.2	NP_004784.2			lon peptidase 1, mitochondrial											breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGCCCTGGGTGGAGCCGCGGA	0.647																																						ENST00000360614.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1537-1539)tcC>tcT		lon peptidase 1, mitochondrial							47	48	48					19																	5699184		2203	4300	6503	SO:0001819	synonymous_variant	9361				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	g.chr19:5699184G>A	U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365		"ATPases / AAA-type", "Serine peptidases / Serine peptidases"	9479	protein-coding gene	gene with protein product		605490	"protease, serine, 15"	PRSS15		8248235, 8119403	Standard	NM_004793		Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.1539C>T	19.37:g.5699184G>A						LONP1_ENST00000593119.1_Silent_p.S449S|LONP1_ENST00000590729.1_Silent_p.S383S|LONP1_ENST00000540670.2_Silent_p.S317S|LONP1_ENST00000585374.1_Silent_p.S399S	p.S513S	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN			10	1696	-			513						Silent	SNP	ENST00000360614.3	37	c.1539C>T	CCDS12148.1																																																																																				0.647	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451662.1	NM_004793		3	115	0	0	0	1	0	3	115					A	5699184	G	A	5699184	2	1	417	1	0	0	0	0	0	0	0	1	8892	1335	47	2		2	LONP1	19	5699184	Silent	SNP	G	TCGA-FK-A3S3-01A-11D-A22D-08		5699184	53429799	22	8538											
APOBEC3D	140564	broad.mit.edu	37	chr22	39421296	39421296	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccgggatagagattggcgGtgggtgctcctcaggctgca	16	9	1	1			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr22:39421296G>A	ENST00000216099.8	+	3	839	c.432G>A	c.(430-432)cgG>cgA	p.R144R	APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Silent_p.R144R	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	144					defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					GAGATTGGCGGTGGGTGCTCC	0.587																																						ENST00000216099.7																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11						c.(430-432)cgG>cgA		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D							51	55	53					22																	39421296		2203	4300	6503	SO:0001819	synonymous_variant	140564				negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	g.chr22:39421296G>A	BF832090	CCDS46709.1	22q13.1	2012-10-19	2008-05-01		ENSG00000243811	ENSG00000243811		"Apolipoprotein B mRNA editing enzymes"	17354	protein-coding gene	gene with protein product		609900	"apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative)", "apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene"	APOBEC3E		11863358	Standard	NM_152426		Approved	ARP6, APOBEC3DE	uc003awt.4	Q96AK3	OTTHUMG00000151084	ENST00000216099.8:c.432G>A	22.37:g.39421296G>A						APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Silent_p.R144R	p.R144R	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN			3	839	+	Melanoma(58;0.04)		144					Q5JZ91|Q7Z2N2|Q7Z2N5|Q7Z2N6	Silent	SNP	ENST00000216099.8	37	c.432G>A	CCDS46709.1																																																																																				0.587	APOBEC3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321232.2	NM_152426		3	74	0	0	0	1	0	3	74					A	39421296	G	A	39421296	2	1	417	1	0	0	0	0	0	0	0	1	792	1248	44	2		2	APOBEC3D	22	39421296	Silent	SNP	G	TCGA-FK-A3S3-01A-11D-A22D-08		39421296	11883270	23	8539											
ESPN	83715	broad.mit.edu	37	chr1	6511719	6511719	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acaactcggagctactggctGagattaaggcaggcaagagc	13	9	0	2			TCGA-FK-A3SB-01A-11D-A22D-08	TCGA-FK-A3SB-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7	c7f4c035-cf6d-455d-9f91-540c961ceb34	g.chr1:6511719G>C	ENST00000377828.1	+	9	2140	c.1972G>C	c.(1972-1974)Gag>Cag	p.E658Q	ESPN_ENST00000475228.1_3'UTR|ESPN_ENST00000461727.1_Missense_Mutation_p.E92Q|ESPN_ENST00000416731.1_Missense_Mutation_p.E92Q	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	658	Pro-rich.|WH2. {ECO:0000255|PROSITE- ProRule:PRU00406}.				locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		GCTACTGGCTGAGATTAAGGC	0.637																																						ENST00000377828.1																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17						c.(1972-1974)Gag>Cag		espin							28	31	30					1																	6511719		2203	4300	6503	SO:0001583	missense	83715				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding	g.chr1:6511719G>C	AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"Ankyrin repeat domain containing"	13281	protein-coding gene	gene with protein product		606351	"deafness, autosomal recessive 36"	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.1972G>C	1.37:g.6511719G>C	ENSP00000367059:p.Glu658Gln					ESPN_ENST00000416731.1_Missense_Mutation_p.E92Q|ESPN_ENST00000475228.1_3'UTR|ESPN_ENST00000461727.1_Missense_Mutation_p.E92Q	p.E658Q	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)	9	2140	+	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)	658			Pro-rich.|WH2.		Q6XYB2|Q9H0A2|Q9Y329	Missense_Mutation	SNP	ENST00000377828.1	37	c.1972G>C	CCDS70.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.4|27.4	4.827966|4.827966	0.90955|0.90955	.|.	.|.	ENSG00000187017|ENSG00000187017	ENST00000377828;ENST00000416731|ENST00000434576	T;T|.	0.39056|.	1.1;1.1|.	5.48|5.48	4.54|4.54	0.55810|0.55810	Actin-binding WH2 (2);|.	0.192536|.	0.43110|.	D|.	0.000606|.	T|.	0.71392|.	0.3334|.	M|M	0.68317|0.68317	2.08|2.08	0.48395|0.48395	D|D	0.999648|0.999648	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.83275|.	0.996;0.978|.	T|.	0.71069|.	-0.4699|.	10|.	0.38643|.	T|.	0.18|.	-14.6499|-14.6499	14.4137|14.4137	0.67135|0.67135	0.0:0.0:0.8513:0.1487|0.0:0.0:0.8513:0.1487	.|.	92;658|.	B1AK53-2;B1AK53|.	.;ESPN_HUMAN|.	Q|S	658;92|1	ENSP00000367059:E658Q;ENSP00000399239:E92Q|.	ENSP00000367059:E658Q|.	E|X	+|+	1|2	0|2	ESPN|ESPN	6434306|6434306	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.980000|0.980000	0.70556|0.70556	9.336000|9.336000	0.96533|0.96533	1.255000|1.255000	0.44051|0.44051	0.491000|0.491000	0.48974|0.48974	GAG|TGA		0.637	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001887.3	NM_031475		5	22	0	0	0	1	0	5	22					C	6511719	G	C	6511719	3	2	418	1	0	0	0	0	1	0	0	0	5254	1291	45	4	2006	4	ESPN	1	6511719	Missense_Mutation	SNP	G	TCGA-FK-A3SB-01A-11D-A22D-08		6511719	242738902	1	8540											
NBPF3	84224	broad.mit.edu	37	chr1	21801427	21801427	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgagcaagaggaagaaaaAgggccagtgtctcccaggta	13	8	1	3			TCGA-FK-A3SB-01A-11D-A22D-08	TCGA-FK-A3SB-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7	c7f4c035-cf6d-455d-9f91-540c961ceb34	g.chr1:21801427A>G	ENST00000318249.5	+	8	1325	c.975A>G	c.(973-975)aaA>aaG	p.K325K	NBPF3_ENST00000454000.2_Silent_p.K255K|NBPF3_ENST00000342104.5_Silent_p.K325K|NBPF3_ENST00000318220.6_Silent_p.K269K	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	325	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGGAAGAAAAAGGGCCAGTGT	0.398																																						ENST00000318220.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(805-807)aaA>aaG		neuroblastoma breakpoint family, member 3							195	217	209					1																	21801427		2203	4300	6503	SO:0001819	synonymous_variant	84224					cytoplasm		g.chr1:21801427A>G	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"neuroblastoma breakpoint family"	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.975A>G	1.37:g.21801427A>G						NBPF3_ENST00000454000.2_Silent_p.K255K|NBPF3_ENST00000318249.5_Silent_p.K325K|NBPF3_ENST00000342104.5_Silent_p.K325K	p.K269K			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	11	1855	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	325			NBPF 1.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Silent	SNP	ENST00000318249.5	37	c.807A>G	CCDS216.1																																																																																				0.398	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		3	194	0	0	0	1	0	3	194					G	21801427	A	G	21801427	2	3	418	1	0	0	0	0	0	0	0	1	10197	69	3	3		3	NBPF3	1	21801427	Silent	SNP	A	TCGA-FK-A3SB-01A-11D-A22D-08	15289708	21801427	227449194	2	8541											
SP140L	93349	broad.mit.edu	37	chr2	231223784	231223784	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagttttggaagcactgTtcagcgaggtcaacatgcag	12	8	3	0			TCGA-FK-A3SB-01A-11D-A22D-08	TCGA-FK-A3SB-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7	c7f4c035-cf6d-455d-9f91-540c961ceb34	g.chr2:231223784T>C	ENST00000415673.2	+	4	462	c.376T>C	c.(376-378)Ttc>Ctc	p.F126L	SP140L_ENST00000243810.6_Missense_Mutation_p.F126L|SP140L_ENST00000396563.4_Missense_Mutation_p.F126L|SP140L_ENST00000458341.1_Missense_Mutation_p.F39L|SP140L_ENST00000444636.1_Missense_Mutation_p.F126L	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	126	HSR. {ECO:0000255|PROSITE- ProRule:PRU00747}.					nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						GGAAGCACTGTTCAGCGAGGT	0.388																																						ENST00000243810.6																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						c.(376-378)Ttc>Ctc		SP140 nuclear body protein-like							133	139	137					2																	231223784		2203	4300	6503	SO:0001583	missense	93349					nucleus	DNA binding|metal ion binding	g.chr2:231223784T>C	BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"Zinc fingers, PHD-type"	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.376T>C	2.37:g.231223784T>C	ENSP00000397911:p.Phe126Leu					SP140L_ENST00000444636.1_Missense_Mutation_p.F126L|SP140L_ENST00000415673.2_Missense_Mutation_p.F126L|SP140L_ENST00000458341.1_Missense_Mutation_p.F39L|SP140L_ENST00000396563.4_Missense_Mutation_p.F126L	p.F126L			Q9H930	LY10L_HUMAN			4	376	+			126			HSR.		Q2M375|Q4ZG65|Q9BSP3	Missense_Mutation	SNP	ENST00000415673.2	37	c.376T>C	CCDS46538.1	.	.	.	.	.	.	.	.	.	.	T	14.88	2.668370	0.47677	.	.	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563;ENST00000458341	D;D;D;D;D	0.97553	-4.43;-4.43;-4.43;-4.43;-4.43	3.71	3.71	0.42584	.	.	.	.	.	D	0.98131	0.9383	M	0.83774	2.66	0.27119	N	0.962189	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.994	D	0.93505	0.6848	8	.	.	.	.	9.3491	0.38126	0.0:0.0:0.0:1.0	.	39;126	Q9H930-3;Q9H930-4	.;.	L	126;126;126;126;39	ENSP00000395195:F126L;ENSP00000397911:F126L;ENSP00000243810:F126L;ENSP00000379811:F126L;ENSP00000395223:F39L	.	F	+	1	0	SP140L	230932028	1.000000	0.71417	0.975000	0.42487	0.029000	0.11900	3.151000	0.50670	1.626000	0.50381	0.459000	0.35465	TTC		0.388	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	NM_138402		3	159	0	0	0	1	0	3	159					C	231223784	T	C	231223784	3	2	418	1	0	0	0	0	1	0	0	0	14963	1725	60	3	390	3	SP140L	2	231223784	Missense_Mutation	SNP	T	TCGA-FK-A3SB-01A-11D-A22D-08		231223784	11975589	3	8542											
VGLL3	389136	broad.mit.edu	37	chr3	87017837	87017837	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgtagttggttctgtcttTgtgatgtcacactggggagc	13	7	3	1			TCGA-FK-A3SB-01A-11D-A22D-08	TCGA-FK-A3SB-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7	c7f4c035-cf6d-455d-9f91-540c961ceb34	g.chr3:87017837T>C	ENST00000398399.2	-	3	1203	c.840A>G	c.(838-840)acA>acG	p.T280T	VGLL3_ENST00000383698.3_Silent_p.T280T	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GTTCTGTCTTTGTGATGTCAC	0.557																																						ENST00000398399.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19						c.(838-840)acA>acG		vestigial like 3 (Drosophila)							83	84	84					3																	87017837		2108	4238	6346	SO:0001819	synonymous_variant	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87017837T>C	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"vestigial like 3 (Drosophila)"			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.840A>G	3.37:g.87017837T>C						VGLL3_ENST00000383698.3_Silent_p.T280T	p.T280T	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	3	1203	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	280						Silent	SNP	ENST00000398399.2	37	c.840A>G	CCDS43110.1																																																																																				0.557	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		9	29	0	0	0	1	0	9	29					C	87017837	T	C	87017837	2	2	418	1	0	0	0	0	0	0	0	1	17157	1799	63	3		3	VGLL3	3	87017837	Silent	SNP	T	TCGA-FK-A3SB-01A-11D-A22D-08		87017837	111004593	4	8543											
IGSF10	285313	broad.mit.edu	37	chr3	151171242	151171242	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccatgggtttccatgcagGtaaaggctgtctaggtcagg	14	8	2	0			TCGA-FK-A3SB-01A-11D-A22D-08	TCGA-FK-A3SB-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7	c7f4c035-cf6d-455d-9f91-540c961ceb34	g.chr3:151171242G>A	ENST00000282466.3	-	3	644	c.645C>T	c.(643-645)taC>taT	p.Y215Y		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	215					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTCCATGCAGGTAAAGGCTGT	0.413																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(643-645)taC>taT		immunoglobulin superfamily, member 10							108	109	108					3																	151171242		2203	4300	6503	SO:0001819	synonymous_variant	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151171242G>A	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.645C>T	3.37:g.151171242G>A							p.Y215Y	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	644	-			215					Q86YJ9|Q8N772|Q8NA84	Silent	SNP	ENST00000282466.3	37	c.645C>T	CCDS3160.1																																																																																				0.413	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		3	107	0	0	0	1	0	3	107					A	151171242	G	A	151171242	2	1	418	1	0	0	0	0	0	0	0	1	7597	1256	44	2		2	IGSF10	3	151171242	Silent	SNP	G	TCGA-FK-A3SB-01A-11D-A22D-08	64153405	151171242	46851188	5	8544											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FK-A3SB-01A-11D-A22D-08	TCGA-FK-A3SB-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7	c7f4c035-cf6d-455d-9f91-540c961ceb34	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		29	63	0	0	0	1	0	29	63					T	140453136	A	T	140453136	3	4	418	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FK-A3SB-01A-11D-A22D-08		140453136	18685527	6	8545											
TRIM8	81603	broad.mit.edu	37	chr10	104416787	104416787	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccccgtgttccccccatcGcagtatcccaatggctccgc	8	19	0	0			TCGA-FK-A3SB-01A-11D-A22D-08	TCGA-FK-A3SB-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7	c7f4c035-cf6d-455d-9f91-540c961ceb34	g.chr10:104416787G>A	ENST00000302424.7	+	6	1454	c.1332G>A	c.(1330-1332)tcG>tcA	p.S444S		NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	444					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)|negative regulation of viral transcription (GO:0032897)|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)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|PML body (GO:0016605)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TCCCCCCATCGCAGTATCCCA	0.657																																						ENST00000302424.6																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1330-1332)tcG>tcA		tripartite motif containing 8							32	37	36					10																	104416787		2202	4299	6501	SO:0001819	synonymous_variant	81603					cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding	g.chr10:104416787G>A	AF281046	CCDS31274.1	10q24.3	2013-01-09	2011-01-25	2002-06-14	ENSG00000171206	ENSG00000171206		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	15579	protein-coding gene	gene with protein product	"glioblastoma expressed ring finger protein"	606125	"ring finger protein 27", "tripartite motif-containing 8"	RNF27		11118312, 12163497	Standard	NM_030912		Approved	GERP	uc001kvz.2	Q9BZR9	OTTHUMG00000018964	ENST00000302424.7:c.1332G>A	10.37:g.104416787G>A							p.S444S	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	6	1454	+		Colorectal(252;0.122)	444					A6NI31|Q9C028	Silent	SNP	ENST00000302424.7	37	c.1332G>A	CCDS31274.1																																																																																				0.657	TRIM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050084.3	NM_030912		3	70	0	0	0	1	0	3	70					A	104416787	G	A	104416787	2	1	418	1	0	0	0	0	0	0	0	1	16545	1074	38	1		1	TRIM8	10	104416787	Silent	SNP	G	TCGA-FK-A3SB-01A-11D-A22D-08		104416787	31117960	7	8546											
ARFGAP2	84364	broad.mit.edu	37	chr11	47189578	47189578	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagctttcccctaaggaaaAgggattgtccttgtacctag	9	9	0	0			TCGA-FK-A3SB-01A-11D-A22D-08	TCGA-FK-A3SB-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7	c7f4c035-cf6d-455d-9f91-540c961ceb34	g.chr11:47189578A>G	ENST00000524782.1	-	12	1315	c.1087T>C	c.(1087-1089)Ttt>Ctt	p.F363L	ARFGAP2_ENST00000426335.2_Missense_Mutation_p.F227L|ARFGAP2_ENST00000395449.3_5'UTR|RP11-390K5.6_ENST00000524412.1_RNA|ARFGAP2_ENST00000419701.2_Missense_Mutation_p.F256L|ARFGAP2_ENST00000319543.6_Missense_Mutation_p.F94L	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	363	Required for interaction with coatomer.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CCTAAGGAAAAGGGATTGTCC	0.512																																						ENST00000524782.1																			0				breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(1087-1089)Ttt>Ctt		ADP-ribosylation factor GTPase activating protein 2							100	96	97					11																	47189578		2201	4299	6500	SO:0001583	missense	84364				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding	g.chr11:47189578A>G	AK027482	CCDS7926.1, CCDS73283.1	11p11.2-p11.12	2012-10-05	2008-01-09	2008-01-09	ENSG00000149182	ENSG00000149182		"ADP-ribosylation factor GTPase activating proteins"	13504	protein-coding gene	gene with protein product		606908	"zinc finger protein 289, ID1 regulated"	ZNF289		11278321, 14690497	Standard	NM_032389		Approved	IRZ, Zfp289, FLJ14576	uc001ndt.3	Q8N6H7	OTTHUMG00000166773	ENST00000524782.1:c.1087T>C	11.37:g.47189578A>G	ENSP00000434442:p.Phe363Leu					ARFGAP2_ENST00000426335.2_Missense_Mutation_p.F227L|ARFGAP2_ENST00000395449.3_5'UTR|ARFGAP2_ENST00000419701.2_Missense_Mutation_p.F256L|ARFGAP2_ENST00000319543.6_Missense_Mutation_p.F94L	p.F363L	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN			12	1315	-			363			Required for interaction with coatomer.		B4DX29|B7Z9M7|D3DQQ9|Q3LIF2|Q8N3I1|Q96SX7	Missense_Mutation	SNP	ENST00000524782.1	37	c.1087T>C	CCDS7926.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.44|16.44	3.124999|3.124999	0.56721|0.56721	.|.	.|.	ENSG00000149182|ENSG00000149182	ENST00000426335;ENST00000524782;ENST00000319543;ENST00000419701;ENST00000526342;ENST00000527927|ENST00000527776	T;T;T;T;T;T|.	0.17054|.	3.35;3.51;3.08;3.19;2.3;2.68|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73822|0.73822	0.3636|0.3636	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	P;P;P|.	0.51057|.	0.941;0.928;0.835|.	P;P;P|.	0.53760|.	0.734;0.452;0.546|.	T|T	0.72297|0.72297	-0.4335|-0.4335	10|5	0.13470|.	T|.	0.59|.	-12.0451|-12.0451	16.8222|16.8222	0.85835|0.85835	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	256;227;363|.	B4DX29;G5E9L0;Q8N6H7|.	.;.;ARFG2_HUMAN|.	L|P	227;363;94;256;70;227|84	ENSP00000400226:F227L;ENSP00000434442:F363L;ENSP00000327309:F94L;ENSP00000389264:F256L;ENSP00000437305:F70L;ENSP00000434433:F227L|.	ENSP00000327309:F94L|.	F|L	-|-	1|2	0|0	ARFGAP2|ARFGAP2	47146154|47146154	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.847000|5.847000	0.69451|0.69451	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	TTT|CTT		0.512	ARFGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391425.1	NM_032389		3	61	0	0	0	1	0	3	61					G	47189578	A	G	47189578	3	3	418	1	0	0	0	0	1	0	0	0	850	72	3	3	498	3	ARFGAP2	11	47189578	Missense_Mutation	SNP	A	TCGA-FK-A3SB-01A-11D-A22D-08		47189578	87816938	8	8547											
HSF4	3299	broad.mit.edu	37	chr16	67203680	67203680	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggcccggaagccagtcccTccccctaagaccccgcgcct	10	20	0	1			TCGA-FK-A3SB-01A-11D-A22D-08	TCGA-FK-A3SB-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7	c7f4c035-cf6d-455d-9f91-540c961ceb34	g.chr16:67203680T>C	ENST00000521374.1	+	13	1471	c.1471T>C	c.(1471-1473)Tcc>Ccc	p.S491P	HSF4_ENST00000421453.1_Missense_Mutation_p.S461P|NOL3_ENST00000564053.1_5'Flank|HSF4_ENST00000584272.1_Missense_Mutation_p.S461P|NOL3_ENST00000432069.2_5'Flank|HSF4_ENST00000264009.8_Missense_Mutation_p.S491P			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	491					camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		AGCCAGTCCCTCCCCCTAAGA	0.662											OREG0023873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000264009.8																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12						c.(1471-1473)Tcc>Ccc		heat shock transcription factor 4							39	45	43					16																	67203680		1849	4065	5914	SO:0001583	missense	3299				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr16:67203680T>C	D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"cataract, Marner"	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.1471T>C	16.37:g.67203680T>C	ENSP00000430947:p.Ser491Pro		OREG0023873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1097	HSF4_ENST00000421453.1_Missense_Mutation_p.S461P|HSF4_ENST00000521374.1_Missense_Mutation_p.S491P|HSF4_ENST00000584272.1_Missense_Mutation_p.S461P	p.S491P	NM_001040667.2	NP_001035757.1	Q9ULV5	HSF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	15	2436	+		Ovarian(137;0.0563)	491					Q99472|Q9ULV6	Missense_Mutation	SNP	ENST00000521374.1	37	c.1471T>C	CCDS42175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.48|15.48	2.846491|2.846491	0.51164|0.51164	.|.	.|.	ENSG00000102878|ENSG00000102878	ENST00000519601;ENST00000520304|ENST00000421453;ENST00000264009;ENST00000517685;ENST00000521374	.|.	.|.	.|.	4.63|4.63	3.45|3.45	0.39498|0.39498	.|.	.|0.435053	.|0.19894	.|N	.|0.103661	T|T	0.40040|0.40040	0.1101|0.1101	N|N	0.24115|0.24115	0.695|0.695	0.26638|0.26638	N|N	0.97234|0.97234	.|D;P	.|0.76494	.|0.999;0.895	.|D;B	.|0.68943	.|0.961;0.38	T|T	0.08848|0.08848	-1.0702|-1.0702	5|9	.|0.72032	.|D	.|0.01	-12.8056|-12.8056	7.8381|7.8381	0.29382|0.29382	0.0:0.0:0.2114:0.7886|0.0:0.0:0.2114:0.7886	.|.	.|461;491	.|Q9ULV5-2;Q9ULV5	.|.;HSF4_HUMAN	P|P	222;134|461;491;415;491	.|.	.|ENSP00000264009:S491P	L|S	+|+	2|1	0|0	HSF4|HSF4	65761181|65761181	0.215000|0.215000	0.23574|0.23574	0.982000|0.982000	0.44146|0.44146	0.184000|0.184000	0.23303|0.23303	1.280000|1.280000	0.33202|0.33202	2.063000|2.063000	0.61619|0.61619	0.460000|0.460000	0.39030|0.39030	CTC|TCC		0.662	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375080.1	NM_001538		3	109	0	0	0	1	0	3	109					C	67203680	T	C	67203680	3	2	418	1	0	0	0	0	1	0	0	0	7398	1551	54	3	1535	3	HSF4	16	67203680	Missense_Mutation	SNP	T	TCGA-FK-A3SB-01A-11D-A22D-08		67203680	23151073	9	8548											
ZFHX3	463	broad.mit.edu	37	chr16	72845826	72845826	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctccggtttgatctcctcaGctgtttttggtcgcttcgaa	10	11	2	1			TCGA-FK-A3SB-01A-11D-A22D-08	TCGA-FK-A3SB-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7	c7f4c035-cf6d-455d-9f91-540c961ceb34	g.chr16:72845826G>C	ENST00000268489.5	-	6	4313	c.3641C>G	c.(3640-3642)gCt>gGt	p.A1214G	RP5-991G20.2_ENST00000558618.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.A300G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1214					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)				GATCTCCTCAGCTGTTTTTGG	0.542																																						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.(3640-3642)gCt>gGt		zinc finger homeobox 3							181	188	186					16																	72845826		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.chr16:72845826G>C	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.3641C>G	16.37:g.72845826G>C	ENSP00000268489:p.Ala1214Gly					ZFHX3_ENST00000397992.5_Missense_Mutation_p.A300G	p.A1214G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			6	4313	-		Ovarian(137;0.13)	1214					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.3641C>G	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350456	0.41599	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.73897	-0.79;-0.78	5.86	5.86	0.93980	.	0.151040	0.30649	N	0.009170	T	0.61489	0.2351	L	0.27053	0.805	0.28636	N	0.907434	P	0.34546	0.456	B	0.33521	0.165	T	0.57394	-0.7819	10	0.25751	T	0.34	.	13.3936	0.60836	0.0724:0.0:0.9276:0.0	.	1214	Q15911	ZFHX3_HUMAN	G	1214;300	ENSP00000268489:A1214G;ENSP00000438926:A300G	ENSP00000268489:A1214G	A	-	2	0	ZFHX3	71403327	1.000000	0.71417	0.956000	0.39512	0.990000	0.78478	6.615000	0.74201	2.937000	0.99478	0.650000	0.86243	GCT		0.542	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		123	227	0	0	0	1	0	123	227					C	72845826	G	C	72845826	3	2	418	1	0	0	0	0	1	0	0	0	17631	971	34	4	7490	4	ZFHX3	16	72845826	Missense_Mutation	SNP	G	TCGA-FK-A3SB-01A-11D-A22D-08	5642146	72845826	17508927	10	8549											
MYH10	4628	broad.mit.edu	37	chr17	8397110	8397110	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cctggcctcctcctcctcctCctgctgctcctgaagactgt	7	19	0	2			TCGA-FK-A3SB-01A-11D-A22D-08	TCGA-FK-A3SB-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7	c7f4c035-cf6d-455d-9f91-540c961ceb34	g.chr17:8397110C>G	ENST00000269243.4	-	30	4195	c.4057G>C	c.(4057-4059)Gag>Cag	p.E1353Q	MYH10_ENST00000360416.3_Missense_Mutation_p.E1384Q|MYH10_ENST00000396239.1_Missense_Mutation_p.E1374Q|MYH10_ENST00000379980.4_Missense_Mutation_p.E1369Q	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1353					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCCTCCTCCTCCTGCTGCTCC	0.587																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(4150-4152)Gag>Cag		myosin, heavy chain 10, non-muscle							85	77	80					17																	8397110		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8397110C>G	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.4057G>C	17.37:g.8397110C>G	ENSP00000269243:p.Glu1353Gln					MYH10_ENST00000396239.1_Missense_Mutation_p.E1374Q|MYH10_ENST00000379980.4_Missense_Mutation_p.E1369Q|MYH10_ENST00000269243.4_Missense_Mutation_p.E1353Q	p.E1384Q	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			32	4288	-			1353					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.4150G>C	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496514	0.64186	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81	5.2	4.22	0.49857	Myosin tail (1);	0.051659	0.85682	D	0.000000	D	0.93203	0.7835	M	0.90759	3.145	0.80722	D	1	D;D;D	0.67145	0.996;0.995;0.996	D;D;D	0.70016	0.967;0.959;0.967	D	0.94653	0.7841	10	0.87932	D	0	.	15.2172	0.73277	0.1418:0.8582:0.0:0.0	.	1362;1384;1353	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	Q	1353;1384;1374;1369	ENSP00000269243:E1353Q;ENSP00000353590:E1384Q;ENSP00000379539:E1374Q;ENSP00000369315:E1369Q	ENSP00000269243:E1353Q	E	-	1	0	MYH10	8337835	1.000000	0.71417	1.000000	0.80357	0.297000	0.27493	7.609000	0.82925	1.401000	0.46761	-0.181000	0.13052	GAG		0.587	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			3	52	0	0	0	1	0	3	52					G	8397110	C	G	8397110	3	3	418	1	0	0	0	0	1	0	0	0	10030	864	30	4	1921	4	MYH10	17	8397110	Missense_Mutation	SNP	C	TCGA-FK-A3SB-01A-11D-A22D-08		8397110	72798100	11	8550											
GMIP	51291	broad.mit.edu	37	chr19	19750895	19750895	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaccctgcccccctcaccTggtagtagtctcttttctgc	6	18	3	0			TCGA-FK-A3SB-01A-11D-A22D-08	TCGA-FK-A3SB-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7	c7f4c035-cf6d-455d-9f91-540c961ceb34	g.chr19:19750895T>C	ENST00000203556.4	-	7	673	c.536A>G	c.(535-537)cAg>cGg	p.Q179R	GMIP_ENST00000587238.1_Splice_Site_p.Q179R|GMIP_ENST00000445806.2_Splice_Site_p.Q179R	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	179					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CCCCCTCACCTGGTAGTAGTC	0.577																																						ENST00000203556.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.e7+1		GEM interacting protein							91	72	79					19																	19750895		2203	4300	6503	SO:0001630	splice_region_variant	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19750895T>C	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"Rho GTPase activating proteins"	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.537+1A>G	19.37:g.19750895T>C						GMIP_ENST00000587238.1_Splice_Site_p.Q179_splice|GMIP_ENST00000445806.2_Splice_Site_p.Q179_splice	p.Q179_splice	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN			7	673	-			179					A0AVN9|B7ZLZ0	Splice_Site	SNP	ENST00000203556.4	37	c.537_splice	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.386310	0.82902	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.43294	0.95;0.95	4.98	4.98	0.66077	.	0.000000	0.42172	D	0.000744	T	0.62696	0.2449	M	0.84082	2.675	0.58432	D	0.999998	D;D;D	0.63880	0.993;0.993;0.993	P;P;P	0.59948	0.866;0.866;0.866	T	0.69375	-0.5162	10	0.87932	D	0	-28.8197	12.6474	0.56742	0.0:0.0:0.0:1.0	.	179;179;179	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	R	179	ENSP00000203556:Q179R;ENSP00000397075:Q179R	ENSP00000203556:Q179R	Q	-	2	0	GMIP	19611895	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	3.327000	0.52045	1.871000	0.54225	0.459000	0.35465	CAG		0.577	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573	Missense_Mutation	11	32	0	0	0	1	0	11	32					C	19750895	T	C	19750895	5	2	418	1	0	0	0	0	0	0	1	0	6491	1594	55	3	2436	3	GMIP	19	19750895	Splice_Site	SNP	T	TCGA-FK-A3SB-01A-11D-A22D-08		19750895	39378088	12	8551											
ZC3H4	23211	broad.mit.edu	37	chr19	47597770	47597770	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactgtgatgcttctcccccTtttctttccggcttctctca	5	16	4	1			TCGA-FK-A3SB-01A-11D-A22D-08	TCGA-FK-A3SB-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7	c7f4c035-cf6d-455d-9f91-540c961ceb34	g.chr19:47597770T>C	ENST00000253048.5	-	3	294	c.257A>G	c.(256-258)aAg>aGg	p.K86R	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	86							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CTTCTCCCCCTTTTCTTTCCG	0.527																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(256-258)aAg>aGg		zinc finger CCCH-type containing 4							290	296	294					19																	47597770		1943	4121	6064	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47597770T>C	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.257A>G	19.37:g.47597770T>C	ENSP00000253048:p.Lys86Arg					ZC3H4_ENST00000594019.1_5'UTR	p.K86R	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	3	294	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	86					Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.257A>G	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	T	18.20	3.570911	0.65765	.	.	ENSG00000130749	ENST00000253048	T	0.20200	2.09	6.05	6.05	0.98169	.	0.274298	0.34652	N	0.003788	T	0.19446	0.0467	L	0.31664	0.95	0.40756	D	0.982964	D	0.53151	0.958	B	0.42386	0.386	T	0.01557	-1.1325	10	0.59425	D	0.04	.	15.5818	0.76448	0.0:0.0:0.0:1.0	.	86	Q9UPT8	ZC3H4_HUMAN	R	86	ENSP00000253048:K86R	ENSP00000253048:K86R	K	-	2	0	ZC3H4	52289610	1.000000	0.71417	0.978000	0.43139	0.776000	0.43924	5.214000	0.65236	2.311000	0.77944	0.528000	0.53228	AAG		0.527	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			4	298	0	0	0	1	0	4	298					C	47597770	T	C	47597770	3	2	418	1	0	0	0	0	1	0	0	0	17567	1609	56	3	3706	3	ZC3H4	19	47597770	Missense_Mutation	SNP	T	TCGA-FK-A3SB-01A-11D-A22D-08	27846875	47597770	11531213	13	8552											
MYH14	79784	broad.mit.edu	37	chr19	50812344	50812344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatcccgggctcaggccgGccgccggaggctgcagcgtg	18	15	1	0			TCGA-FK-A3SB-01A-11D-A22D-08	TCGA-FK-A3SB-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7	c7f4c035-cf6d-455d-9f91-540c961ceb34	g.chr19:50812344G>A	ENST00000596571.1	+	39	5747	c.5747G>A	c.(5746-5748)gGc>gAc	p.G1916D	MYH14_ENST00000440075.2_Missense_Mutation_p.G1957D|MYH14_ENST00000425460.1_Missense_Mutation_p.G1924D|MYH14_ENST00000376970.2_Missense_Mutation_p.G1949D|MYH14_ENST00000601313.1_Missense_Mutation_p.G1957D|MYH14_ENST00000598205.1_Missense_Mutation_p.G1924D|MYH14_ENST00000262269.8_Missense_Mutation_p.G1957D|CTB-191K22.5_ENST00000595563.1_RNA			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1916					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCTCAGGCCGGCCGCCGGAGG	0.627																																						ENST00000440075.2																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(5869-5871)gGc>gAc		myosin, heavy chain 14, non-muscle							50	56	54					19																	50812344		2075	4194	6269	SO:0001583	missense	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50812344G>A	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.5747G>A	19.37:g.50812344G>A	ENSP00000472819:p.Gly1916Asp					MYH14_ENST00000596571.1_Missense_Mutation_p.G1916D|MYH14_ENST00000262269.8_Missense_Mutation_p.G1957D|MYH14_ENST00000425460.1_Missense_Mutation_p.G1924D|MYH14_ENST00000376970.2_Missense_Mutation_p.G1949D|MYH14_ENST00000598205.1_Missense_Mutation_p.G1924D|MYH14_ENST00000601313.1_Missense_Mutation_p.G1957D	p.G1957D			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	42	5917	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	1916					B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	c.5870G>A	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.606677	0.28623	.	.	ENSG00000105357	ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	3.82	1.57	0.23409	Myosin tail (1);	.	.	.	.	T	0.67477	0.2897	L	0.34521	1.04	0.09310	N	1	B;B;B	0.26318	0.12;0.146;0.053	B;B;B	0.32928	0.138;0.155;0.062	T	0.60647	-0.7222	9	0.87932	D	0	.	6.3842	0.21552	0.0:0.167:0.455:0.378	.	1957;1916;1924	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	D	1957;1949;1924;1700;1957	ENSP00000406273:G1957D;ENSP00000366169:G1949D;ENSP00000407879:G1924D;ENSP00000262269:G1957D	ENSP00000262269:G1957D	G	+	2	0	MYH14	55504156	0.000000	0.05858	0.593000	0.28771	0.965000	0.64279	-0.170000	0.09897	0.355000	0.24131	0.462000	0.41574	GGC		0.627	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		3	100	0	0	0	1	0	3	100					A	50812344	G	A	50812344	3	1	418	1	0	0	0	0	1	0	0	0	10033	1203	42	2	6032	2	MYH14	19	50812344	Missense_Mutation	SNP	G	TCGA-FK-A3SB-01A-11D-A22D-08	3214574	50812344	8316639	14	8553											
CACNG7	59284	broad.mit.edu	37	chr19	54416099	54416099	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgaggatgagtcactgcaGcagccgcgccctgaccctgc	12	15	2	3			TCGA-FK-A3SB-01A-11D-A22D-08	TCGA-FK-A3SB-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7	c7f4c035-cf6d-455d-9f91-540c961ceb34	g.chr19:54416099G>T	ENST00000391767.1	+	2	226	c.14G>T	c.(13-15)aGc>aTc	p.S5I	CACNG7_ENST00000391766.1_Missense_Mutation_p.S5I|CACNG7_ENST00000222212.2_Missense_Mutation_p.S5I|CACNG7_ENST00000468076.1_Intron			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	5					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		AGTCACTGCAGCAGCCGCGCC	0.637											OREG0003671	type=REGULATORY REGION|Gene=CACNG7|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000391767.1																			0				NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(13-15)aGc>aTc		calcium channel, voltage-dependent, gamma subunit 7							47	42	44					19																	54416099		2203	4300	6503	SO:0001583	missense	59284				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|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54416099G>T	AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"Calcium channel subunits"	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.14G>T	19.37:g.54416099G>T	ENSP00000375647:p.Ser5Ile		OREG0003671	type=REGULATORY REGION|Gene=CACNG7|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1000	CACNG7_ENST00000468076.1_Intron|CACNG7_ENST00000222212.2_Missense_Mutation_p.S5I|CACNG7_ENST00000391766.1_Missense_Mutation_p.S5I	p.S5I			P62955	CCG7_HUMAN		GBM - Glioblastoma multiforme(134;0.0711)	2	226	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		5					Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Missense_Mutation	SNP	ENST00000391767.1	37	c.14G>T	CCDS12868.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883799	0.91814	.	.	ENSG00000105605	ENST00000391767;ENST00000222212;ENST00000391766	T;T;T	0.77877	-0.15;-0.15;-1.13	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.75620	0.3874	L	0.27053	0.805	0.80722	D	1	D	0.58970	0.984	P	0.53689	0.732	T	0.78775	-0.2072	10	0.59425	D	0.04	-30.7055	14.6399	0.68717	0.0:0.0:1.0:0.0	.	5	P62955	CCG7_HUMAN	I	5	ENSP00000375647:S5I;ENSP00000222212:S5I;ENSP00000375646:S5I	ENSP00000222212:S5I	S	+	2	0	CACNG7	59107911	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.072000	0.93986	2.411000	0.81874	0.561000	0.74099	AGC		0.637	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2			3	72	1	0	0.115264	1	0.115264	3	72					T	54416099	G	T	54416099	3	4	418	1	0	0	0	0	1	0	0	0	2562	971	34	4	16	4	CACNG7	19	54416099	Missense_Mutation	SNP	G	TCGA-FK-A3SB-01A-11D-A22D-08	3603755	54416099	4712884	15	8554											
EIF3L	51386	broad.mit.edu	37	chr22	38251638	38251638	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggctgaagccattgctccAcaggttggcaatggtaggtg	15	8	0	1			TCGA-FK-A3SB-01A-11D-A22D-08	TCGA-FK-A3SB-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7	c7f4c035-cf6d-455d-9f91-540c961ceb34	g.chr22:38251638A>G	ENST00000412331.2	+	4	942	c.360A>G	c.(358-360)ccA>ccG	p.P120P	EIF3L_ENST00000406934.1_Intron|EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000381683.6_Silent_p.P120P	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCATTGCTCCACAGGTTGGCA	0.448																																						ENST00000412331.2																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(358-360)ccA>ccG		eukaryotic translation initiation factor 3, subunit L							60	56	57					22																	38251638		2203	4300	6503	SO:0001819	synonymous_variant	51386					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:38251638A>G	AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"eukaryotic translation initiation factor 3, subunit 6 interacting protein", "eukaryotic translation initiation factor 3, subunit E interacting protein"	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.360A>G	22.37:g.38251638A>G						EIF3L_ENST00000381683.6_Silent_p.P120P|EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000406934.1_Intron	p.P120P	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN			4	942	+			120						Silent	SNP	ENST00000412331.2	37	c.360A>G	CCDS13960.1																																																																																				0.448	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091		10	29	0	0	0	1	0	10	29					G	38251638	A	G	38251638	2	3	418	1	0	0	0	0	0	0	0	1	5022	146	6	3		3	EIF3L	22	38251638	Silent	SNP	A	TCGA-FK-A3SB-01A-11D-A22D-08		38251638	13052928	16	8555											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	24	0	0	3			TCGA-FK-A3SB-01A-11D-A22D-08	TCGA-FK-A3SB-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7	c7f4c035-cf6d-455d-9f91-540c961ceb34	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		3	76	0	0	0	1	0	3	76					A	150156360	G	A	150156360	2	1	418	1	0	0	0	0	0	0	0	1	7227	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-FK-A3SB-01A-11D-A22D-08		150156360	5114200	17	8556											
MYOM3	127294	broad.mit.edu	37	chr1	24424482	24424482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactcgcacagtgtaagttgCtgagtcctcaatggcgcatc	10	12	1	1			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr1:24424482C>T	ENST00000374434.3	-	7	838	c.676G>A	c.(676-678)Gca>Aca	p.A226T	MYOM3_ENST00000329601.7_Missense_Mutation_p.A226T|MYOM3_ENST00000330966.7_Missense_Mutation_p.A227T|MYOM3_ENST00000475306.1_5'UTR	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	226	Ig-like C2-type 1.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GTGTAAGTTGCTGAGTCCTCA	0.582																																						ENST00000330966.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.(679-681)Gca>Aca		myomesin 3							131	141	138					1																	24424482		2045	4192	6237	SO:0001583	missense	127294							g.chr1:24424482C>T	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	26679	protein-coding gene	gene with protein product			"myomesin family, member 3"			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.676G>A	1.37:g.24424482C>T	ENSP00000363557:p.Ala226Thr					MYOM3_ENST00000329601.7_Missense_Mutation_p.A226T|MYOM3_ENST00000374434.3_Missense_Mutation_p.A226T|MYOM3_ENST00000475306.1_5'UTR	p.A227T			Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	7	841	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	226			Ig-like C2-type 1.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.679G>A	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677775	0.68042	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.67523	-0.27;-0.27;-0.27	5.36	5.36	0.76844	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.324245	0.32190	N	0.006442	T	0.80969	0.4726	M	0.87827	2.91	0.33713	D	0.615984	P;D	0.56746	0.618;0.977	P;P	0.55824	0.698;0.785	D	0.88786	0.3274	10	0.87932	D	0	.	16.0063	0.80363	0.0:1.0:0.0:0.0	.	226;226	Q5VTT5-2;Q5VTT5	.;MYOM3_HUMAN	T	226;227;226	ENSP00000363557:A226T;ENSP00000332670:A227T;ENSP00000328415:A226T	ENSP00000328415:A226T	A	-	1	0	MYOM3	24297069	0.620000	0.27068	0.995000	0.50966	0.335000	0.28730	4.265000	0.58865	2.518000	0.84900	0.555000	0.69702	GCA		0.582	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		4	205	0	0	0	0.009096	0	4	205					T	24424482	C	T	24424482	3	4	419	1	0	0	0	0	1	0	0	0	10093	797	28	2	3761	2	MYOM3	1	24424482	Missense_Mutation	SNP	C	TCGA-FK-A3SD-01A-11D-A22D-08		24424482	224826139	1	8557											
MOV10	4343	broad.mit.edu	37	chr1	113241362	113241362	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaaaatccgttactgcatcaCcaaacttgacagggagcttc	8	11	1	1			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr1:113241362C>G	ENST00000413052.2	+	17	2924	c.2534C>G	c.(2533-2535)aCc>aGc	p.T845S	MOV10_ENST00000468624.1_3'UTR|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000369645.1_Missense_Mutation_p.T845S|MOV10_ENST00000357443.2_Missense_Mutation_p.T845S|MOV10_ENST00000369644.1_Missense_Mutation_p.T789S	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	845					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TACTGCATCACCAAACTTGAC	0.557																																						ENST00000369644.1																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38						c.(2365-2367)aCc>aGc		Mov10, Moloney leukemia virus 10, homolog (mouse)							302	271	281					1																	113241362		2203	4300	6503	SO:0001583	missense	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	g.chr1:113241362C>G	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 113"	610742	"Mov10 (Moloney leukemia virus 10, mouse) homolog", "Mov10, Moloney leukemia virus 10, homolog (mouse)"			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.2534C>G	1.37:g.113241362C>G	ENSP00000399797:p.Thr845Ser					MOV10_ENST00000413052.2_Missense_Mutation_p.T845S|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Missense_Mutation_p.T845S|MOV10_ENST00000369645.1_Missense_Mutation_p.T845S	p.T789S			Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	18	3395	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	845					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	37	c.2366C>G	CCDS853.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.706939	0.48412	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97	4.85	4.85	0.62838	.	0.302551	0.36303	N	0.002680	T	0.74435	0.3716	N	0.13003	0.285	0.80722	D	1	B	0.19200	0.034	B	0.28385	0.089	T	0.69741	-0.5063	10	0.15066	T	0.55	-18.6234	9.2376	0.37475	0.0:0.9006:0.0:0.0994	.	845	Q9HCE1	MOV10_HUMAN	S	845;845;789;845;783	ENSP00000399797:T845S;ENSP00000358659:T845S;ENSP00000358658:T789S;ENSP00000350028:T845S	ENSP00000350028:T845S	T	+	2	0	MOV10	113042885	0.986000	0.35501	1.000000	0.80357	0.986000	0.74619	2.787000	0.47798	2.241000	0.73720	0.313000	0.20887	ACC		0.557	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		4	283	0	0	0	0.02938	0	4	283					G	113241362	C	G	113241362	3	3	419	1	0	0	0	0	1	0	0	0	9718	507	18	4	2596	4	MOV10	1	113241362	Missense_Mutation	SNP	C	TCGA-FK-A3SD-01A-11D-A22D-08	88816880	113241362	136009259	2	8558											
PDE4DIP	9659	broad.mit.edu	37	chr1	144859906	144859906	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attgttcccctgaatgctctGctccagctgccctctcagag	8	15	2	2	rs182136884		TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr1:144859906G>T	ENST00000369354.3	-	38	6367	c.6178C>A	c.(6178-6180)Cag>Aag	p.Q2060K	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q2145K|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q2060K|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q1954K|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.Q2196K			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2060					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGAATGCTCTGCTCCAGCTGC	0.577			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(6586-6588)Cag>Aag		phosphodiesterase 4D interacting protein							82	77	79					1																	144859906		2203	4298	6501	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144859906G>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6178C>A	1.37:g.144859906G>T	ENSP00000358360:p.Gln2060Lys					PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q2145K|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.Q2060K|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q2060K|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q1954K	p.Q2196K			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	41	6624	-			2060					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.6586C>A	CCDS30824.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	1.396	-0.579398	0.03854	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01505	4.82;4.91;4.91;4.92;4.91	5.1	0.961	0.19638	.	.	.	.	.	T	0.00608	0.0020	L	0.43152	1.355	0.80722	D	1	B;B	0.10296	0.003;0.0	B;B	0.09377	0.004;0.0	T	0.45731	-0.9241	9	0.34782	T	0.22	.	2.6421	0.04974	0.1614:0.2665:0.4356:0.1366	.	1954;2060	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	K	1954;2060;2060;2145;2196	ENSP00000327209:Q1954K;ENSP00000358360:Q2060K;ENSP00000358363:Q2060K;ENSP00000435654:Q2145K;ENSP00000358366:Q2196K	ENSP00000327209:Q1954K	Q	-	1	0	PDE4DIP	143571263	0.990000	0.36364	0.996000	0.52242	0.001000	0.01503	0.798000	0.27014	0.255000	0.21593	-0.894000	0.02916	CAG		0.577	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		8	135	1	0	0.00448238	0.047766	0.00625842	8	135					T	144859906	G	T	144859906	3	4	419	1	0	0	0	0	1	0	0	0	11643	1328	46	4	890	4	PDE4DIP	1	144859906	Missense_Mutation	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08	31618544	144859906	104390715	3	8559											
NCOA1	8648	broad.mit.edu	37	chr2	24964736	24964736	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaggcagctaatacagcaGcaaagagccatgcttatgag	11	9	0	3			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr2:24964736G>A	ENST00000406961.1	+	19	4039	c.3387G>A	c.(3385-3387)caG>caA	p.Q1129Q	NCOA1_ENST00000405141.1_Silent_p.Q1129Q|NCOA1_ENST00000407230.1_Silent_p.Q978Q|NCOA1_ENST00000348332.3_Silent_p.Q1129Q|NCOA1_ENST00000395856.3_Silent_p.Q1129Q|NCOA1_ENST00000538539.1_Silent_p.Q1129Q|NCOA1_ENST00000288599.5_Silent_p.Q1129Q			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1129	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAATACAGCAGCAAAGAGCCA	0.522			T	PAX3	alveolar rhadomyosarcoma																																	ENST00000405141.1				Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53						c.(3385-3387)caG>caA		nuclear receptor coactivator 1							109	93	98					2																	24964736		2203	4300	6503	SO:0001819	synonymous_variant	8648							g.chr2:24964736G>A	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.3387G>A	2.37:g.24964736G>A						NCOA1_ENST00000288599.5_Silent_p.Q1129Q|NCOA1_ENST00000538539.1_Silent_p.Q1129Q|NCOA1_ENST00000395856.3_Silent_p.Q1129Q|NCOA1_ENST00000407230.1_Silent_p.Q978Q|NCOA1_ENST00000406961.1_Silent_p.Q1129Q|NCOA1_ENST00000348332.3_Silent_p.Q1129Q	p.Q1129Q			Q15788	NCOA1_HUMAN			20	4098	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1129			Gln-rich.		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Silent	SNP	ENST00000406961.1	37	c.3387G>A	CCDS1712.1																																																																																				0.522	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		3	76	0	0	0	0.009096	0	3	76					A	24964736	G	A	24964736	2	1	419	1	0	0	0	0	0	0	0	1	10228	962	34	2		2	NCOA1	2	24964736	Silent	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08		24964736	218234637	4	8560											
FBXO11	80204	broad.mit.edu	37	chr2	48066119	48066119	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcatctggcagtttctcctGaagatactgttcagcaggtg	10	9	4	2			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr2:48066119G>A	ENST00000403359.3	-	4	538	c.466C>T	c.(466-468)Cag>Tag	p.Q156*	FBXO11_ENST00000378314.3_Nonsense_Mutation_p.Q38*|FBXO11_ENST00000316377.4_Nonsense_Mutation_p.Q72*|FBXO11_ENST00000480038.1_5'UTR|FBXO11_ENST00000402508.1_Nonsense_Mutation_p.Q72*	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	156	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGTTTCTCCTGAAGATACTGT	0.353			"Mis, F, D"		DLBCL																																	ENST00000403359.3				Rec	yes		2	2p16.3	80204	"Mis, F, D"	F-box protein 11			L			DLBCL		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(466-468)Cag>Tag		F-box protein 11							81	78	79					2																	48066119		2203	4300	6503	SO:0001587	stop_gained	80204				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:48066119G>A	AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"Ubiquitin protein ligase E3 component n-recognins", "F-boxes /  "other""	13590	protein-coding gene	gene with protein product	"ubiquitin protein ligase E3 component n-recognin 6"	607871	"F-box only protein 11"			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.466C>T	2.37:g.48066119G>A	ENSP00000384823:p.Gln156*					FBXO11_ENST00000316377.4_Nonsense_Mutation_p.Q72*|FBXO11_ENST00000402508.1_Nonsense_Mutation_p.Q72*|FBXO11_ENST00000480038.1_5'UTR|FBXO11_ENST00000378314.3_Nonsense_Mutation_p.Q38*	p.Q156*	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	538	-		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	156			F-box.		A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Nonsense_Mutation	SNP	ENST00000403359.3	37	c.466C>T	CCDS54357.1	.	.	.	.	.	.	.	.	.	.	G	34	5.408787	0.96072	.	.	ENSG00000138081	ENST00000402508;ENST00000403359;ENST00000316377;ENST00000424163;ENST00000378314	.	.	.	5.6	5.6	0.85130	.	0.049923	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-1.3811	19.6087	0.95589	0.0:0.0:1.0:0.0	.	.	.	.	X	72;156;72;72;38	.	ENSP00000323822:Q72X	Q	-	1	0	FBXO11	47919623	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.865000	0.99609	2.629000	0.89072	0.563000	0.77884	CAG		0.353	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133		5	101	0	0	0	0.014758	0	5	101					A	48066119	G	A	48066119	4	1	419	1	0	0	0	0	0	1	0	0	5727	1299	45	2	2487	2	FBXO11	2	48066119	Nonsense_Mutation	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08	23101383	48066119	195133254	5	8561											
KBTBD10	10324	broad.mit.edu	37	chr2	170367185	170367185	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgacattcccaggcatggAatgtttgtaaaagacctcat	8	8	1	2			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr2:170367185A>C	ENST00000284669.1	+	1	974	c.897A>C	c.(895-897)ggA>ggC	p.G299G	BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	299					myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											CCAGGCATGGAATGTTTGTAA	0.473																																						ENST00000284669.1																			0											c.(895-897)ggA>ggC		kelch-like family member 41							139	139	139					2																	170367185		2203	4300	6503	SO:0001819	synonymous_variant	10324							g.chr2:170367185A>C	AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"Kelch-like", "BTB/POZ domain containing"	16905	protein-coding gene	gene with protein product	"sarcomeric muscle protein"	607701	"kelch repeat and BTB (POZ) domain containing 10", "kelch-like 41 (Drosophila)"	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.897A>C	2.37:g.170367185A>C						RP11-724O16.1_ENST00000513963.1_Intron|BBS5_ENST00000554017.1_Intron	p.G299G	NM_006063.2	NP_006054.2					1	974	+								Q53R42	Silent	SNP	ENST00000284669.1	37	c.897A>C	CCDS2234.1																																																																																				0.473	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063		3	80	0	0	0	0.115264	0	3	80					C	170367185	A	C	170367185	2	2	419	1	0	0	0	0	0	0	0	1	7990	233	9	5		5	KBTBD10	2	170367185	Silent	SNP	A	TCGA-FK-A3SD-01A-11D-A22D-08	122301066	170367185	72832188	6	8562											
TMPRSS11B	132724	broad.mit.edu	37	chr4	69107516	69107516	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagatctttgggaagatatGccgtgcctatgaaagaggaa	12	6	1	4			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr4:69107516G>A	ENST00000332644.5	-	2	176	c.15C>T	c.(13-15)ggC>ggT	p.G5G		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	5						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						GGGAAGATATGCCGTGCCTAT	0.378																																						ENST00000332644.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						c.(13-15)ggC>ggT		transmembrane protease, serine 11B							71	69	70					4																	69107516		2203	4300	6503	SO:0001819	synonymous_variant	132724				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69107516G>A	BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"Serine peptidases / Transmembrane"	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.15C>T	4.37:g.69107516G>A							p.G5G	NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN			2	176	-			5					A8K4D9	Silent	SNP	ENST00000332644.5	37	c.15C>T	CCDS3521.1																																																																																				0.378	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251431.2	NM_182502		15	36	0	0	0	0.0333	0	15	36					A	69107516	G	A	69107516	2	1	419	1	0	0	0	0	0	0	0	1	16237	1306	46	2		2	TMPRSS11B	4	69107516	Silent	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08		69107516	122046760	7	8563											
UGT2B7	7364	broad.mit.edu	37	chr4	69962710	69962710	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgctatttttccctgtagtGagctgctggctgagctattt	10	8	0	2			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr4:69962710G>A	ENST00000508661.1	+	1	499	c.472G>A	c.(472-474)Gag>Aag	p.E158K	UGT2B7_ENST00000305231.7_Missense_Mutation_p.E158K|UGT2B7_ENST00000509763.1_Intron			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	158					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TCCCTGTAGTGAGCTGCTGGC	0.368																																						ENST00000305231.7																			0				autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(472-474)Gag>Aag		UDP glucuronosyltransferase 2 family, polypeptide B7							137	137	137					4																	69962710		2203	4299	6502	SO:0001583	missense	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69962710G>A	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"UDP glucuronosyltransferases"	12554	protein-coding gene	gene with protein product		600068	"UDP glycosyltransferase 2 family, polypeptide B7"			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.472G>A	4.37:g.69962710G>A	ENSP00000427659:p.Glu158Lys					UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Missense_Mutation_p.E158K	p.E158K	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN			1	518	+			158					B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000508661.1	37	c.472G>A		.	.	.	.	.	.	.	.	.	.	G	16.20	3.055578	0.55325	.	.	ENSG00000171234	ENST00000305231;ENST00000508661	T;T	0.60548	0.18;0.18	2.54	2.54	0.30619	.	0.081913	0.47852	U	0.000201	T	0.77116	0.4083	M	0.92604	3.325	0.26437	N	0.975838	P;P	0.51147	0.942;0.736	P;P	0.62435	0.902;0.641	T	0.69665	-0.5084	9	.	.	.	.	10.7765	0.46353	0.0:0.0:1.0:0.0	.	158;158	E9PBP8;P16662	.;UD2B7_HUMAN	K	158	ENSP00000304811:E158K;ENSP00000427659:E158K	.	E	+	1	0	UGT2B7	69997299	1.000000	0.71417	0.539000	0.28077	0.027000	0.11550	5.430000	0.66501	1.408000	0.46895	0.313000	0.20887	GAG		0.368	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074		36	117	0	0	0	0.117977	0	36	117					A	69962710	G	A	69962710	3	1	419	1	0	0	0	0	1	0	0	0	16959	1291	45	2	474	2	UGT2B7	4	69962710	Missense_Mutation	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08	855194	69962710	121191566	8	8564											
PPWD1	23398	broad.mit.edu	37	chr5	64875316	64875316	+	Missense_Mutation	SNP	T	T	G													attggctttgttccaggggaTagccaaaaagcatcgtgctg							TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr5:64875316T>G	ENST00000261308.5	+	7	1298	c.1226T>G	c.(1225-1227)aTa>aGa	p.I409R	PPWD1_ENST00000538977.1_Missense_Mutation_p.I253R|PPWD1_ENST00000535264.1_Missense_Mutation_p.I379R	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	409					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		TTCCAGGGGATAGCCAAAAAG	0.358																																						ENST00000261308.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19						c.(1225-1227)aTa>aGa		peptidylprolyl isomerase domain and WD repeat containing 1							88	89	89					5																	64875316		2203	4300	6503	SO:0001583	missense	23398				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64875316T>G	AK025679	CCDS3985.1, CCDS64161.1, CCDS64162.1	5q12.3	2013-01-09			ENSG00000113593	ENSG00000113593		"WD repeat domain containing"	28954	protein-coding gene	gene with protein product						7584044	Standard	NM_015342		Approved	KIAA0073	uc003jtv.5	Q96BP3	OTTHUMG00000131226	ENST00000261308.5:c.1226T>G	5.37:g.64875316T>G	ENSP00000261308:p.Ile409Arg					PPWD1_ENST00000538977.1_Missense_Mutation_p.I253R|PPWD1_ENST00000535264.1_Missense_Mutation_p.I379R	p.I409R	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN		Lung(70;0.00451)	7	1298	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	409					B4DWR9|Q15002|Q7KZ89	Missense_Mutation	SNP	ENST00000261308.5	37	c.1226T>G	CCDS3985.1	.	.	.	.	.	.	.	.	.	.	T	15.10	2.732799	0.48939	.	.	ENSG00000113593	ENST00000261308;ENST00000535264;ENST00000538977	T;T;T	0.60797	0.16;0.35;2.0	5.58	5.58	0.84498	WD40/YVTN repeat-like-containing domain (1);	0.053134	0.64402	D	0.000001	T	0.35158	0.0922	N	0.04203	-0.255	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.22591	-1.0212	10	0.15499	T	0.54	.	15.7482	0.77962	0.0:0.0:0.0:1.0	.	379;409	F5H7P7;Q96BP3	.;PPWD1_HUMAN	R	409;379;253	ENSP00000261308:I409R;ENSP00000442371:I379R;ENSP00000444496:I253R	ENSP00000261308:I409R	I	+	2	0	PPWD1	64911072	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.640000	0.83355	2.120000	0.65058	0.533000	0.62120	ATA		0.358	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253970.2	NM_015342		3	71	0	0	0	0.115264	0	3	71					G	64875316	T	G	64875316	3	3	419	1	0	0	0	0	1	0	0	0	12414	1406	49	5	1252	5	PPWD1	5	64875316	Missense_Mutation	SNP	T	TCGA-FK-A3SD-01A-11D-A22D-08		64875316	116039944	9	8565	49	2									
PPWD1	23398	broad.mit.edu	37	chr5	64875317	64875317	+	Silent	SNP	A	A	C													ttggctttgttccaggggatAgccaaaaagcatcgtgctgc							TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr5:64875317A>C	ENST00000261308.5	+	7	1299	c.1227A>C	c.(1225-1227)atA>atC	p.I409I	PPWD1_ENST00000538977.1_Silent_p.I253I|PPWD1_ENST00000535264.1_Silent_p.I379I	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	409					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		TCCAGGGGATAGCCAAAAAGC	0.358																																						ENST00000261308.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19						c.(1225-1227)atA>atC		peptidylprolyl isomerase domain and WD repeat containing 1							87	88	88					5																	64875317		2203	4300	6503	SO:0001819	synonymous_variant	23398				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64875317A>C	AK025679	CCDS3985.1, CCDS64161.1, CCDS64162.1	5q12.3	2013-01-09			ENSG00000113593	ENSG00000113593		"WD repeat domain containing"	28954	protein-coding gene	gene with protein product						7584044	Standard	NM_015342		Approved	KIAA0073	uc003jtv.5	Q96BP3	OTTHUMG00000131226	ENST00000261308.5:c.1227A>C	5.37:g.64875317A>C						PPWD1_ENST00000538977.1_Silent_p.I253I|PPWD1_ENST00000535264.1_Silent_p.I379I	p.I409I	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN		Lung(70;0.00451)	7	1299	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	409					B4DWR9|Q15002|Q7KZ89	Silent	SNP	ENST00000261308.5	37	c.1227A>C	CCDS3985.1																																																																																				0.358	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253970.2	NM_015342		3	71	0	0	0	0.115264	0	3	71					C	64875317	A	C	64875317	2	2	419	1	0	0	0	0	0	0	0	1	12414	410	15	5		5	PPWD1	5	64875317	Silent	SNP	A	TCGA-FK-A3SD-01A-11D-A22D-08	1	64875317	116039943	10	8566	49	2									
IK	3550	broad.mit.edu	37	chr5	140038918	140038918	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcccatggacgttgacaaaGgtgagttgtacacacagcat	11	9	0	2			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr5:140038918G>T	ENST00000417647.2	+	13	1334	c.1195G>T	c.(1195-1197)Gga>Tga	p.G399*		NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	399					cell-cell signaling (GO:0007267)|immune response (GO:0006955)	extracellular space (GO:0005615)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTTGACAAAGGTGAGTTGTA	0.498																																						ENST00000417647.2																			0				large_intestine(1)	1						c.e13+1		IK cytokine, down-regulator of HLA II							123	113	116					5																	140038918		1996	4176	6172	SO:0001630	splice_region_variant	3550				cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction		g.chr5:140038918G>T	BC051295	CCDS47280.1	5q31.3	2008-08-07			ENSG00000113141	ENSG00000113141			5958	protein-coding gene	gene with protein product		600549				7970704	Standard	NM_006083		Approved		uc003lgq.3	Q13123	OTTHUMG00000163374	ENST00000417647.2:c.1195+1G>T	5.37:g.140038918G>T							p.G399_splice	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		13	1334	+		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	399					Q6IPD8	Splice_Site	SNP	ENST00000417647.2	37	c.1195_splice	CCDS47280.1	.	.	.	.	.	.	.	.	.	.	G	37	6.494184	0.97612	.	.	ENSG00000113141	ENST00000417647	.	.	.	5.35	5.35	0.76521	.	0.055106	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	17.9993	0.89194	0.0:0.0:1.0:0.0	.	.	.	.	X	399	.	ENSP00000396301:G399X	G	+	1	0	IK	140019102	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	5.538000	0.67193	2.663000	0.90544	0.655000	0.94253	GGA		0.498	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372897.1	NM_006083	Nonsense_Mutation	4	78	1	0	0.014758	0.014758	0.0202239	4	78					T	140038918	G	T	140038918	5	4	419	1	0	0	0	0	0	0	1	0	7608	1014	35	4	1245	4	IK	5	140038918	Splice_Site	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08	75163601	140038918	40876342	11	8567											
ZBTB22	9278	broad.mit.edu	37	chr6	33283595	33283595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcccccttgtctggggGctcactcagggtacggacat	11	15	3	0			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr6:33283595G>A	ENST00000431845.2	-	2	1250	c.1099C>T	c.(1099-1101)Ccc>Tcc	p.P367S	TAPBP_ENST00000475304.1_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.P367S|TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000426633.2_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	367					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)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						TTGTCTGGGGGCTCACTCAGG	0.577																																						ENST00000431845.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						c.(1099-1101)Ccc>Tcc		zinc finger and BTB domain containing 22							113	111	112					6																	33283595		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33283595G>A	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13085	protein-coding gene	gene with protein product		611439	"zinc finger protein 297"	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.1099C>T	6.37:g.33283595G>A	ENSP00000407545:p.Pro367Ser					ZBTB22_ENST00000418724.1_Missense_Mutation_p.P367S	p.P367S	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN			2	1250	-			367					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	c.1099C>T	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	G	6.310	0.425258	0.11987	.	.	ENSG00000236104	ENST00000418724;ENST00000431845	T;T	0.05447	3.44;3.44	4.09	4.09	0.47781	.	0.000000	0.33346	N	0.005015	T	0.01940	0.0061	L	0.38175	1.15	0.33034	D	0.530528	P	0.47762	0.9	B	0.38954	0.286	T	0.45071	-0.9286	10	0.09338	T	0.73	.	13.8509	0.63496	0.0:0.0:1.0:0.0	.	367	O15209	ZBT22_HUMAN	S	367	ENSP00000404403:P367S;ENSP00000407545:P367S	ENSP00000404403:P367S	P	-	1	0	ZBTB22	33391573	1.000000	0.71417	0.989000	0.46669	0.778000	0.44026	3.538000	0.53597	2.107000	0.64212	0.448000	0.29417	CCC		0.577	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			14	156	0	0	0	0.11911	0	14	156					A	33283595	G	A	33283595	3	1	419	1	0	0	0	0	1	0	0	0	17527	1203	42	2	809	2	ZBTB22	6	33283595	Missense_Mutation	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08		33283595	137831472	12	8568											
TBC1D22B	55633	broad.mit.edu	37	chr6	37254821	37254821	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacgaatcctctcattccGttgttccagcaaccacttgt	7	13	1	0	rs74511891		TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr6:37254821G>A	ENST00000373491.3	+	7	986	c.840G>A	c.(838-840)ccG>ccA	p.P280P		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	280	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			CTCTCATTCCGTTGTTCCAGC	0.418													G|||	1	0.000199681	0	0	5008	,	,		20624	0.001		0	False		,,,				2504	0					ENST00000373491.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15						c.(838-840)ccG>ccA		TBC1 domain family, member 22B							169	157	161					6																	37254821		2203	4300	6503	SO:0001819	synonymous_variant	55633					intracellular	Rab GTPase activator activity	g.chr6:37254821G>A	AK096340	CCDS4832.1	6p21.2	2005-01-05	2005-01-05	2005-01-05	ENSG00000065491	ENSG00000065491			21602	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 197"	C6orf197			Standard	NM_017772		Approved	FLJ20337, dJ744I24.2	uc003onn.3	Q9NU19	OTTHUMG00000014619	ENST00000373491.3:c.840G>A	6.37:g.37254821G>A							p.P280P	NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	OV - Ovarian serous cystadenocarcinoma(102;0.241)		7	986	+			280			Rab-GAP TBC.		A8KA28|Q32MQ8|Q5VUK9|Q6P4C3|Q7Z6P7|Q9BPV6|Q9BUT5|Q9NXB6	Silent	SNP	ENST00000373491.3	37	c.840G>A	CCDS4832.1																																																																																				0.418	TBC1D22B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040402.1	NM_017772		70	96	0	0	0	0.139131	0	70	96					A	37254821	G	A	37254821	2	1	419	1	0	0	0	0	0	0	0	1	15609	1132	40	1		1	TBC1D22B	6	37254821	Silent	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08	3971226	37254821	133860246	13	8569											
MDN1	23195	broad.mit.edu	37	chr6	90371839	90371839	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcattaattttgtcttcaccTtgtccaccatcatcagcttc	3	13	5	0			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr6:90371839T>C	ENST00000369393.3	-	87	14647	c.14532A>G	c.(14530-14532)caA>caG	p.Q4844Q	MDN1_ENST00000428876.1_Silent_p.Q4844Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4844					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGTCTTCACCTTGTCCACCAT	0.388																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(14530-14532)caA>caG		MDN1, midasin homolog (yeast)							424	370	388					6																	90371839		2203	4299	6502	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90371839T>C	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.14532A>G	6.37:g.90371839T>C						MDN1_ENST00000428876.1_Silent_p.Q4844Q	p.Q4844Q			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	87	14647	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	4844					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.14532A>G	CCDS5024.1																																																																																				0.388	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			3	172	0	0	0	0.115264	0	3	172					C	90371839	T	C	90371839	2	2	419	1	0	0	0	0	0	0	0	1	9415	1606	56	3		3	MDN1	6	90371839	Silent	SNP	T	TCGA-FK-A3SD-01A-11D-A22D-08	53117018	90371839	80743228	14	8570											
ELMO1	9844	broad.mit.edu	37	chr7	37172827	37172827	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgtgaagtccatggcagGgttgacatgattctgtgagt	14	7	1	4			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr7:37172827G>C	ENST00000310758.4	-	14	1746	c.1099C>G	c.(1099-1101)Cct>Gct	p.P367A	ELMO1_ENST00000448602.1_Missense_Mutation_p.P367A|ELMO1_ENST00000341056.3_Missense_Mutation_p.P69A|ELMO1_ENST00000442504.1_Missense_Mutation_p.P367A	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	367	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TCCATGGCAGGGTTGACATGA	0.463																																						ENST00000310758.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(1099-1101)Cct>Gct		engulfment and cell motility 1							143	123	130					7																	37172827		2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37172827G>C	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"Engulfment and cell motility proteins"	16286	protein-coding gene	gene with protein product		606420	"engulfment and cell motility 1 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1099C>G	7.37:g.37172827G>C	ENSP00000312185:p.Pro367Ala					ELMO1_ENST00000442504.1_Missense_Mutation_p.P367A|ELMO1_ENST00000341056.3_Missense_Mutation_p.P69A|ELMO1_ENST00000448602.1_Missense_Mutation_p.P367A	p.P367A	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN			14	1746	-			367			ELMO.		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.1099C>G	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668918	0.88348	.	.	ENSG00000155849	ENST00000341056;ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.27	5.27	0.74061	Engulfment/cell motility, ELMO (2);	0.000000	0.85682	D	0.000000	T	0.80048	0.4552	M	0.80508	2.5	0.80722	D	1	D	0.67145	0.996	D	0.67900	0.954	T	0.82675	-0.0340	10	0.87932	D	0	.	18.0472	0.89336	0.0:0.0:1.0:0.0	.	367	Q92556	ELMO1_HUMAN	A	69;367;271;367;367	ENSP00000342142:P69A;ENSP00000312185:P367A;ENSP00000406952:P367A;ENSP00000394458:P367A	ENSP00000312185:P367A	P	-	1	0	ELMO1	37139352	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.813000	0.91963	2.650000	0.89964	0.655000	0.94253	CCT		0.463	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		32	71	0	0	0	0.144211	0	32	71					C	37172827	G	C	37172827	3	2	419	1	0	0	0	0	1	0	0	0	5065	1232	43	4	1120	4	ELMO1	7	37172827	Missense_Mutation	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08		37172827	121965836	15	8571											
EIF2C2	27161	broad.mit.edu	37	chr8	141559263	141559263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccaccagctgcaggcccGcatacgtgttcttcaggtgc	10	16	2	0			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr8:141559263G>A	ENST00000220592.5	-	12	1650	c.1538C>T	c.(1537-1539)gCg>gTg	p.A513V	AGO2_ENST00000519980.1_Missense_Mutation_p.A513V	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	513					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)	p.A513V(1)									CTGCAGGCCCGCATACGTGTT	0.682																																						ENST00000220592.5																			1	Substitution - Missense(1)	p.A513V(1)	endometrium(1)								c.(1537-1539)gCg>gTg		argonaute RISC catalytic component 2							52	51	52					8																	141559263		2203	4300	6503	SO:0001583	missense	27161							g.chr8:141559263G>A	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.1538C>T	8.37:g.141559263G>A	ENSP00000220592:p.Ala513Val					AGO2_ENST00000519980.1_Missense_Mutation_p.A513V	p.A513V	NM_012154.3	NP_036286.2					12	1650	-								Q8TCZ5|Q8WV58|Q96ID1	Missense_Mutation	SNP	ENST00000220592.5	37	c.1538C>T	CCDS6380.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.594448	0.28445	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	T;T	0.05199	3.48;3.49	5.41	4.53	0.55603	Ribonuclease H-like (1);	0.235833	0.44902	D	0.000409	T	0.03477	0.0100	N	0.03324	-0.35	0.22666	N	0.99887	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41342	-0.9514	10	0.28530	T	0.3	-1.1407	14.3156	0.66450	0.0718:0.0:0.9282:0.0	.	513;513	Q9UKV8-2;Q9UKV8	.;AGO2_HUMAN	V	513	ENSP00000220592:A513V;ENSP00000430176:A513V	ENSP00000220592:A513V	A	-	2	0	EIF2C2	141628445	0.974000	0.33945	0.300000	0.25030	0.809000	0.45718	4.276000	0.58933	1.418000	0.47098	0.655000	0.94253	GCG		0.682	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			3	48	0	0	0	0.115264	0	3	48					A	141559263	G	A	141559263	3	1	419	1	0	0	0	0	1	0	0	0	5006	1087	38	1	1073	1	EIF2C2	8	141559263	Missense_Mutation	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08		141559263	4804759	16	8572											
ARMC3	219681	broad.mit.edu	37	chr10	23292246	23292246	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attcagtgaggcagcttataAtaagttgctcaataacaatc	7	7	2	1	rs569312673		TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr10:23292246A>G	ENST00000298032.5	+	13	1718	c.1634A>G	c.(1633-1635)aAt>aGt	p.N545S	ARMC3_ENST00000409049.3_Missense_Mutation_p.N545S|ARMC3_ENST00000376528.4_Missense_Mutation_p.N282S|ARMC3_ENST00000409983.3_Missense_Mutation_p.N545S	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	545						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCAGCTTATAATAAGTTGCTC	0.348																																						ENST00000298032.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1633-1635)aAt>aGt		armadillo repeat containing 3							112	112	112					10																	23292246		2203	4300	6503	SO:0001583	missense	219681						binding	g.chr10:23292246A>G	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"Armadillo repeat containing"	30964	protein-coding gene	gene with protein product	"cancer/testis antigen 81"	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1634A>G	10.37:g.23292246A>G	ENSP00000298032:p.Asn545Ser					ARMC3_ENST00000409983.3_Missense_Mutation_p.N545S|ARMC3_ENST00000409049.3_Missense_Mutation_p.N545S|ARMC3_ENST00000376528.4_Missense_Mutation_p.N282S	p.N545S	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN			13	1718	+			545					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	c.1634A>G	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	A	9.202	1.028836	0.19512	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000376528	T;T;T;T	0.37584	1.19;1.19;1.19;2.41	5.53	4.41	0.53225	.	0.849335	0.10961	N	0.615037	T	0.31136	0.0787	L	0.50919	1.6	0.32523	N	0.535935	B;B	0.14012	0.009;0.004	B;B	0.09377	0.004;0.003	T	0.30268	-0.9984	10	0.12103	T	0.63	-16.86	10.8516	0.46773	0.926:0.0:0.0739:0.0	.	545;545	Q5W041-4;Q5W041	.;ARMC3_HUMAN	S	545;545;481;545;282	ENSP00000298032:N545S;ENSP00000386943:N545S;ENSP00000387288:N545S;ENSP00000365711:N282S	ENSP00000298032:N545S	N	+	2	0	ARMC3	23332252	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	2.293000	0.43558	2.093000	0.63338	0.460000	0.39030	AAT		0.348	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		17	101	0	0	0	0.038395	0	17	101					G	23292246	A	G	23292246	3	3	419	1	0	0	0	0	1	0	0	0	952	101	4	3	1680	3	ARMC3	10	23292246	Missense_Mutation	SNP	A	TCGA-FK-A3SD-01A-11D-A22D-08		23292246	112242501	17	8573											
SUPV3L1	6832	broad.mit.edu	37	chr10	70968592	70968592	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agctctagggagtaaagctaCtgagccacccagccccgatg	11	13	1	1			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr10:70968592C>G	ENST00000359655.4	+	15	2222	c.2162C>G	c.(2161-2163)aCt>aGt	p.T721S		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	721	Interaction with LAMTOR5, important for protein stability.				ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGTAAAGCTACTGAGCCACCC	0.537																																						ENST00000359655.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2161-2163)aCt>aGt		suppressor of var1, 3-like 1 (S. cerevisiae)							76	70	72					10																	70968592		2203	4300	6503	SO:0001583	missense	6832				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding	g.chr10:70968592C>G	AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"suppressor of var1 (S.cerevisiae) 3-like 1"			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.2162C>G	10.37:g.70968592C>G	ENSP00000352678:p.Thr721Ser						p.T721S	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN			15	2222	+			721			Interaction with HBXIP, important for protein stability.		A8K301|O43630	Missense_Mutation	SNP	ENST00000359655.4	37	c.2162C>G	CCDS7287.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.724526	0.00694	.	.	ENSG00000156502	ENST00000359655	T	0.28895	1.59	5.9	2.74	0.32292	.	0.805242	0.11393	N	0.568601	T	0.12902	0.0313	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.31586	-0.9938	10	0.09338	T	0.73	0.0536	6.3229	0.21227	0.0:0.5484:0.1342:0.3174	.	721	Q8IYB8	SUV3_HUMAN	S	721	ENSP00000352678:T721S	ENSP00000352678:T721S	T	+	2	0	SUPV3L1	70638598	0.000000	0.05858	0.044000	0.18714	0.047000	0.14425	0.242000	0.18087	1.372000	0.46190	0.650000	0.86243	ACT		0.537	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2	NM_003171		3	83	0	0	0	0.009096	0	3	83					G	70968592	C	G	70968592	3	3	419	1	0	0	0	0	1	0	0	0	15399	565	20	4	2220	4	SUPV3L1	10	70968592	Missense_Mutation	SNP	C	TCGA-FK-A3SD-01A-11D-A22D-08	47676346	70968592	64566155	18	8574											
PTDSS2	81490	broad.mit.edu	37	chr11	490485	490485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacaaggatgaccagggcaGcaccgtcggcaacggggacc	15	12	0	1			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr11:490485G>A	ENST00000308020.5	+	12	1543	c.1367G>A	c.(1366-1368)aGc>aAc	p.S456N		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	456					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CDP-diacylglycerol-serine O-phosphatidyltransferase activity (GO:0003882)			autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-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;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	GACCAGGGCAGCACCGTCGGC	0.657																																						ENST00000308020.5																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9						c.(1366-1368)aGc>aAc		phosphatidylserine synthase 2	Phosphatidylserine(DB00144)						68	55	60					11																	490485		2202	4300	6502	SO:0001583	missense	81490					integral to membrane		g.chr11:490485G>A	BC001210	CCDS7696.1	11p15	2008-05-02			ENSG00000174915	ENSG00000174915			15463	protein-coding gene	gene with protein product		612793				14984733	Standard	NM_030783		Approved	PSS2	uc001lpj.3	Q9BVG9	OTTHUMG00000119087	ENST00000308020.5:c.1367G>A	11.37:g.490485G>A	ENSP00000308258:p.Ser456Asn						p.S456N	NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	12	1543	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	456						Missense_Mutation	SNP	ENST00000308020.5	37	c.1367G>A	CCDS7696.1	.	.	.	.	.	.	.	.	.	.	G	9.468	1.094975	0.20471	.	.	ENSG00000174915	ENST00000308020	.	.	.	3.46	-0.923	0.10465	.	2.248750	0.01712	N	0.027775	T	0.17238	0.0414	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09443	-1.0674	9	0.17369	T	0.5	-0.5352	2.8286	0.05492	0.3616:0.0:0.4358:0.2026	.	456	Q9BVG9	PTSS2_HUMAN	N	456	.	ENSP00000308258:S456N	S	+	2	0	PTDSS2	480485	0.001000	0.12720	0.011000	0.14972	0.030000	0.12068	0.076000	0.14712	-0.037000	0.13646	0.561000	0.74099	AGC		0.657	PTDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239301.2			3	52	0	0	0	0.009096	0	3	52					A	490485	G	A	490485	3	1	419	1	0	0	0	0	1	0	0	0	12737	971	34	2	1413	2	PTDSS2	11	490485	Missense_Mutation	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08		490485	134516031	19	8575											
OR10A2	341276	broad.mit.edu	37	chr11	6891253	6891255	+	In_Frame_Del	DEL	TTC	TTC	-													gctgtgccactcagatgtatTtcttcttcttctttggagtg							TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr11:6891253_6891255delTTC	ENST00000307322.4	+	1	330_332	c.268_270delTTC	c.(268-270)ttcdel	p.F94del		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	94						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(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCAGATGTATTTCTTCTTCTTCT	0.517																																						ENST00000307322.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24						c.(268-270)del		olfactory receptor, family 10, subfamily A, member 2																																				SO:0001651	inframe_deletion	341276				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6891253_6891255delTTC	BK004293	CCDS31415.1	11p15.4	2012-08-09		2004-03-10	ENSG00000170790	ENSG00000170790		"GPCR / Class A : Olfactory receptors"	8161	protein-coding gene	gene with protein product				OR10A2P			Standard	NM_001004460		Approved	OST363	uc001meu.1	Q9H208	OTTHUMG00000165739	ENST00000307322.4:c.268_270delTTC	11.37:g.6891262_6891264delTTC	ENSP00000303862:p.Phe94del						p.F94del	NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	1	330_332	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	94					B2RNL9|Q6IFG9	In_Frame_Del	DEL	ENST00000307322.4	37	c.268_270delTTC	CCDS31415.1																																																																																				0.517	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385984.1	NM_001004460		7	178						7	178	---	---	---	---	-	6891255	TTC	-	6891253	7	5	419	1	0	1	0	1	0	0	0	0	10890	1841	64	0	270	0	OR10A2	11	6891253	In_Frame_Del	DEL	TTC	TCGA-FK-A3SD-01A-11D-A22D-08	6400768	6891253	128115263	20	8576											
MRGPRX1	259249	broad.mit.edu	37	chr11	18956155	18956155	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatgtagatggagaaggcGttcctgcgcatgcggcagcc	16	9	0	2			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr11:18956155G>A	ENST00000302797.3	-	1	401	c.177C>T	c.(175-177)aaC>aaT	p.N59N	MRGPRX1_ENST00000526914.1_5'UTR|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	59					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGGAGAAGGCGTTCCTGCGCA	0.562																																						ENST00000302797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(175-177)aaC>aaT		MAS-related GPR, member X1							145	140	141					11																	18956155		2194	4286	6480	SO:0001819	synonymous_variant	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18956155G>A		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"GPCR / Class A : Orphans"	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.177C>T	11.37:g.18956155G>A						MRGPRX1_ENST00000526914.1_5'UTR	p.N59N	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN			1	401	-			59					Q4V9L2|Q8TDD8|Q8TDD9	Silent	SNP	ENST00000302797.3	37	c.177C>T	CCDS7846.1																																																																																				0.562	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		6	202	0	0	0	0.021553	0	6	202					A	18956155	G	A	18956155	2	1	419	1	0	0	0	0	0	0	0	1	9766	1136	40	1		1	MRGPRX1	11	18956155	Silent	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08	12064902	18956155	116050361	21	8577											
NRXN2	9379	broad.mit.edu	37	chr11	64415766	64415766	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcccactgctgcaagcagaCgccctggttggcacaggact	11	14	0	1			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr11:64415766C>T	ENST00000377551.1	-	16	3539	c.3328G>A	c.(3328-3330)Gtc>Atc	p.V1110I	AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000265459.6_Missense_Mutation_p.V1110I|NRXN2_ENST00000377559.3_Missense_Mutation_p.V1070I|NRXN2_ENST00000409571.1_Missense_Mutation_p.V1103I			Q9P2S2	NRX2A_HUMAN	neurexin 2	1110	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TGCAAGCAGACGCCCTGGTTG	0.632																																						ENST00000265459.6																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						c.(3328-3330)Gtc>Atc		neurexin 2							107	93	98					11																	64415766		2201	4297	6498	SO:0001583	missense	9379				cell adhesion	integral to membrane	metal ion binding	g.chr11:64415766C>T		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.3328G>A	11.37:g.64415766C>T	ENSP00000366774:p.Val1110Ile					NRXN2_ENST00000409571.1_Missense_Mutation_p.V1103I|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000377559.3_Missense_Mutation_p.V1070I|NRXN2_ENST00000377551.1_Missense_Mutation_p.V1110I	p.V1110I	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN			17	3789	-			1110			EGF-like 3.		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.3328G>A	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527781	0.64860	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	4.34	4.34	0.51931	Concanavalin A-like lectin/glucanase (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.38164	U	0.001783	T	0.69387	0.3105	L	0.41236	1.265	0.45662	D	0.998587	D;P;D	0.76494	0.998;0.731;0.999	D;B;D	0.77004	0.989;0.171;0.972	T	0.65459	-0.6163	10	0.25751	T	0.34	.	14.4014	0.67050	0.0:1.0:0.0:0.0	.	1070;1110;856	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	I	1110;1070;1110;1070;1103	ENSP00000366774:V1110I;ENSP00000366782:V1070I;ENSP00000265459:V1110I;ENSP00000386416:V1103I	ENSP00000265459:V1110I	V	-	1	0	NRXN2	64172342	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.617000	0.67716	2.240000	0.73641	0.655000	0.94253	GTC		0.632	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		5	110	0	0	0	0.014758	0	5	110					T	64415766	C	T	64415766	3	4	419	1	0	0	0	0	1	0	0	0	10666	536	19	1	2107	1	NRXN2	11	64415766	Missense_Mutation	SNP	C	TCGA-FK-A3SD-01A-11D-A22D-08	45459611	64415766	70590750	22	8578											
SYT12	91683	broad.mit.edu	37	chr11	66807525	66807525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacactgggccaggtggagGtgagcatggagtacgacact	15	9	1	1			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr11:66807525G>A	ENST00000393946.2	+	7	1634	c.472G>A	c.(472-474)Gtg>Atg	p.V158M	SYT12_ENST00000525457.1_Missense_Mutation_p.V158M|SYT12_ENST00000527043.1_Missense_Mutation_p.V158M|SYT12_ENST00000526281.1_3'UTR			Q8IV01	SYT12_HUMAN	synaptotagmin XII	158						cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|synapse (GO:0045202)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						CCAGGTGGAGGTGAGCATGGA	0.627																																					Ovarian(65;2862 3307)	ENST00000393946.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						c.(472-474)Gtg>Atg		synaptotagmin XII							76	69	72					11																	66807525		2200	4295	6495	SO:0001583	missense	91683					cell junction|integral to membrane|synaptic vesicle membrane		g.chr11:66807525G>A	AK024280	CCDS8154.1	11q13.2	2014-07-02			ENSG00000173227	ENSG00000173227		"Synaptotagmins"	18381	protein-coding gene	gene with protein product		606436				8987811	Standard	NM_177963		Approved	SRG1	uc001oju.3	Q8IV01	OTTHUMG00000167101	ENST00000393946.2:c.472G>A	11.37:g.66807525G>A	ENSP00000377520:p.Val158Met					SYT12_ENST00000526281.1_3'UTR|SYT12_ENST00000525457.1_Missense_Mutation_p.V158M|SYT12_ENST00000527043.1_Missense_Mutation_p.V158M	p.V158M			Q8IV01	SYT12_HUMAN			7	1634	+			158						Missense_Mutation	SNP	ENST00000393946.2	37	c.472G>A	CCDS8154.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648710	0.87958	.	.	ENSG00000173227	ENST00000393946;ENST00000525457;ENST00000527043	T;T;T	0.73152	-0.72;-0.72;-0.72	5.63	5.63	0.86233	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.77405	0.4125	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.79642	-0.1718	10	0.87932	D	0	.	17.1708	0.86830	0.0:0.0:1.0:0.0	.	158	Q8IV01	SYT12_HUMAN	M	158	ENSP00000377520:V158M;ENSP00000431400:V158M;ENSP00000435316:V158M	ENSP00000377520:V158M	V	+	1	0	SYT12	66564101	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	9.813000	0.99286	2.655000	0.90218	0.462000	0.41574	GTG		0.627	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393129.1	NM_177963		5	113	0	0	0	0.021553	0	5	113					A	66807525	G	A	66807525	3	1	419	1	0	0	0	0	1	0	0	0	15465	1261	44	2	482	2	SYT12	11	66807525	Missense_Mutation	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08	2391759	66807525	68198991	23	8579											
MOGAT2	80168	broad.mit.edu	37	chr11	75442250	75442250	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccagctgcaccagcgttaTatcaaagagctgtgcaacct	8	12	1	1			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr11:75442250T>C	ENST00000198801.5	+	6	994	c.924T>C	c.(922-924)taT>taC	p.Y308Y	MOGAT2_ENST00000526712.1_Silent_p.Y226Y	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	308					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					ACCAGCGTTATATCAAAGAGC	0.562																																						ENST00000526712.1																			0				NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20						c.(676-678)taT>taC		monoacylglycerol O-acyltransferase 2							118	103	108					11																	75442250		2200	4293	6493	SO:0001819	synonymous_variant	80168				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr11:75442250T>C	AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.924T>C	11.37:g.75442250T>C						MOGAT2_ENST00000198801.5_Silent_p.Y308Y	p.Y226Y			Q3SYC2	MOGT2_HUMAN			5	1451	+	Ovarian(111;0.103)		308					A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Silent	SNP	ENST00000198801.5	37	c.678T>C	CCDS8240.1																																																																																				0.562	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1	NM_025098		4	127	0	0	0	0.014758	0	4	127					C	75442250	T	C	75442250	2	2	419	1	0	0	0	0	0	0	0	1	9695	1413	49	3		3	MOGAT2	11	75442250	Silent	SNP	T	TCGA-FK-A3SD-01A-11D-A22D-08	8634725	75442250	59564266	24	8580											
ZC3H12C	85463	broad.mit.edu	37	chr11	110035909	110035909	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaccaaagttccatcacaAgcctcctcttccgcacctgg	6	16	2	1			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr11:110035909A>G	ENST00000278590.3	+	6	2150	c.2099A>G	c.(2098-2100)aAg>aGg	p.K700R	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.K701R|ZC3H12C_ENST00000453089.2_Missense_Mutation_p.K669R	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	700							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TTCCATCACAAGCCTCCTCTT	0.587																																						ENST00000453089.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2005-2007)aAg>aGg		zinc finger CCCH-type containing 12C							158	182	174					11																	110035909		2122	4233	6355	SO:0001583	missense	85463						endonuclease activity|nucleic acid binding|zinc ion binding	g.chr11:110035909A>G		CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"Zinc fingers, CCCH-type domain containing"	29362	protein-coding gene	gene with protein product	"MCP induced protein 3"	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.2099A>G	11.37:g.110035909A>G	ENSP00000278590:p.Lys700Arg					ZC3H12C_ENST00000528673.1_Missense_Mutation_p.K701R|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.K700R	p.K669R			Q9C0D7	ZC12C_HUMAN		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)	5	2887	+		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	700					B4DI65|B4DR47	Missense_Mutation	SNP	ENST00000278590.3	37	c.2006A>G	CCDS44727.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.454200	0.84209	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.38077	1.16;1.16;1.19	5.94	4.82	0.62117	.	0.217538	0.48286	D	0.000188	T	0.39627	0.1085	L	0.49126	1.545	0.40954	D	0.984568	D;D;D	0.59767	0.986;0.971;0.986	P;P;P	0.49922	0.626;0.572;0.626	T	0.17410	-1.0370	10	0.32370	T	0.25	-27.6444	11.4763	0.50300	0.9304:0.0:0.0696:0.0	.	701;700;700	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	R	700;701;669	ENSP00000278590:K700R;ENSP00000431821:K701R;ENSP00000413094:K669R	ENSP00000278590:K700R	K	+	2	0	ZC3H12C	109541119	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.175000	0.77632	2.272000	0.75746	0.459000	0.35465	AAG		0.587	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390		12	311	0	0	0	0.105934	0	12	311					G	110035909	A	G	110035909	3	3	419	1	0	0	0	0	1	0	0	0	17560	72	3	3	2121	3	ZC3H12C	11	110035909	Missense_Mutation	SNP	A	TCGA-FK-A3SD-01A-11D-A22D-08	34593659	110035909	24970607	25	8581											
MLL	4297	broad.mit.edu	37	chr11	118361935	118361935	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctgccctctctgtgacaAatgttatgatgatgatgact	8	9	2	5			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr11:118361935A>G	ENST00000389506.5	+	14	4721	c.4721A>G	c.(4720-4722)aAa>aGa	p.K1574R	KMT2A_ENST00000534358.1_Missense_Mutation_p.K1574R|KMT2A_ENST00000354520.4_Missense_Mutation_p.K1536R			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1574					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CTCTGTGACAAATGTTATGAT	0.433																																						ENST00000534358.1																			0											c.(4720-4722)aAa>aGa		lysine (K)-specific methyltransferase 2A							184	170	174					11																	118361935		2200	4296	6496	SO:0001583	missense	4297							g.chr11:118361935A>G	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.4721A>G	11.37:g.118361935A>G	ENSP00000374157:p.Lys1574Arg					KMT2A_ENST00000389506.5_Missense_Mutation_p.K1574R|KMT2A_ENST00000354520.4_Missense_Mutation_p.K1536R	p.K1574R	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					14	4744	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.4721A>G	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	A	18.67	3.673836	0.67928	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313;ENST00000392873	D;D;D;D	0.87491	-1.91;-1.91;-1.91;-2.26	5.52	5.52	0.82312	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.87822	0.6274	N	0.17838	0.53	0.58432	D	0.999996	D;D	0.76494	0.999;0.957	D;P	0.80764	0.994;0.857	D	0.86191	0.1612	10	0.23891	T	0.37	.	15.6631	0.77203	1.0:0.0:0.0:0.0	.	1574;1574	E9PQG7;Q03164	.;MLL1_HUMAN	R	1574;1574;1536;484;286	ENSP00000436786:K1574R;ENSP00000374157:K1574R;ENSP00000346516:K1536R;ENSP00000376612:K286R	ENSP00000346516:K1536R	K	+	2	0	MLL	117867145	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.572000	0.82409	2.088000	0.63022	0.533000	0.62120	AAA		0.433	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		3	159	0	0	0	0.014758	0	3	159					G	118361935	A	G	118361935	3	3	419	1	0	0	0	0	1	0	0	0	9620	14	1	3	4775	3	MLL	11	118361935	Missense_Mutation	SNP	A	TCGA-FK-A3SD-01A-11D-A22D-08	8326026	118361935	16644581	26	8582											
SRPR	6734	broad.mit.edu	37	chr11	126134958	126134958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttctctggagggtgtaggGcactcaaacgccgggtgtgt	16	9	2	0			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr11:126134958G>A	ENST00000332118.6	-	11	1575	c.1421C>T	c.(1420-1422)gCc>gTc	p.A474V	SRPR_ENST00000530680.1_5'Flank|SRPR_ENST00000532259.1_Missense_Mutation_p.A446V	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	474					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)			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)		AGGGTGTAGGGCACTCAAACG	0.552																																						ENST00000332118.6																			0				endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21						c.(1420-1422)gCc>gTc		signal recognition particle receptor (docking protein)							71	64	66					11																	126134958		2201	4299	6500	SO:0001583	missense	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.chr11:126134958G>A	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.1421C>T	11.37:g.126134958G>A	ENSP00000328023:p.Ala474Val					SRPR_ENST00000532259.1_Missense_Mutation_p.A446V	p.A474V	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)	11	1575	-	all_hematologic(175;0.145)		474					A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Missense_Mutation	SNP	ENST00000332118.6	37	c.1421C>T	CCDS31717.1	.	.	.	.	.	.	.	.	.	.	G	36	5.667473	0.96745	.	.	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	5.26	5.26	0.73747	ATPase, AAA+ type, core (1);Signal recognition particle, SRP54 subunit, GTPase (2);	0.106814	0.64402	D	0.000004	T	0.71256	0.3318	L	0.57536	1.79	0.80722	D	1	P;P	0.45768	0.775;0.866	P;P	0.51974	0.686;0.686	T	0.71318	-0.4629	9	0.49607	T	0.09	-16.4354	19.0619	0.93096	0.0:0.0:1.0:0.0	.	446;474	E9PJS4;P08240	.;SRPR_HUMAN	V	474;446	.	ENSP00000328023:A474V	A	-	2	0	SRPR	125640168	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.411000	0.97342	2.744000	0.94065	0.650000	0.86243	GCC		0.552	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	NM_003139		3	49	0	0	0	0.009096	0	3	49					A	126134958	G	A	126134958	3	1	419	1	0	0	0	0	1	0	0	0	15161	1203	42	2	511	2	SRPR	11	126134958	Missense_Mutation	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08	7773023	126134958	8871558	27	8583											
ITPR2	3709	broad.mit.edu	37	chr12	26731693	26731693	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attccactgaggctttctgcGctgggtttggccaggtgcaa	13	10	1	1	rs200190856		TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr12:26731693G>A	ENST00000381340.3	-	34	4999	c.4583C>T	c.(4582-4584)gCg>gTg	p.A1528V		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1528					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GGCTTTCTGCGCTGGGTTTGG	0.393													G|||	1	0.000199681	0	0	5008	,	,		16488	0.001		0	False		,,,				2504	0					ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(4582-4584)gCg>gTg		inositol 1,4,5-trisphosphate receptor, type 2							120	117	118					12																	26731693		1861	4096	5957	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26731693G>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.4583C>T	12.37:g.26731693G>A	ENSP00000370744:p.Ala1528Val						p.A1528V	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			34	4999	-	Colorectal(261;0.0847)		1528					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.4583C>T	CCDS41764.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	3.368	-0.128998	0.06753	.	.	ENSG00000123104	ENST00000381340	T	0.63913	-0.07	5.12	2.18	0.27775	.	0.641709	0.16752	N	0.200981	T	0.43100	0.1232	N	0.19112	0.55	0.09310	N	0.999999	B	0.19073	0.033	B	0.11329	0.006	T	0.31138	-0.9954	10	0.38643	T	0.18	.	8.9605	0.35845	0.1441:0.126:0.7298:0.0	.	1528	Q14571	ITPR2_HUMAN	V	1528	ENSP00000370744:A1528V	ENSP00000370744:A1528V	A	-	2	0	ITPR2	26622960	0.010000	0.17322	0.002000	0.10522	0.138000	0.21146	1.779000	0.38624	1.379000	0.46325	0.585000	0.79938	GCG		0.393	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		12	123	0	0	0	0.11911	0	12	123					A	26731693	G	A	26731693	3	1	419	1	0	0	0	0	1	0	0	0	7921	1087	38	1	3618	1	ITPR2	12	26731693	Missense_Mutation	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08		26731693	107120202	28	8584											
PA2G4	5036	broad.mit.edu	37	chr12	56500441	56500441	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcctgtgtgagaaaggtgAtgccatgattatggaagaaa	14	4	0	4			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr12:56500441A>G	ENST00000303305.6	+	2	577	c.158A>G	c.(157-159)gAt>gGt	p.D53G	RP11-603J24.9_ENST00000548861.1_Missense_Mutation_p.D34G|PA2G4_ENST00000552766.1_Missense_Mutation_p.D53G|RP11-603J24.17_ENST00000548595.1_RNA	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	53	RNA-binding.				cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			gagaaaggtgatgccatgATT	0.433																																						ENST00000303305.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12						c.(157-159)gAt>gGt		proliferation-associated 2G4, 38kDa							78	73	75					12																	56500441		2201	4299	6500	SO:0001583	missense	5036				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr12:56500441A>G	U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"proliferation-associated 2G4, 38kD"			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.158A>G	12.37:g.56500441A>G	ENSP00000302886:p.Asp53Gly					RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Missense_Mutation_p.D53G|RP11-603J24.9_ENST00000548861.1_Missense_Mutation_p.D34G	p.D53G	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0739)		2	577	+			53			RNA-binding.		O43846|Q9UM59	Missense_Mutation	SNP	ENST00000303305.6	37	c.158A>G	CCDS8902.1	.	.	.	.	.	.	.	.	.	.	A	33	5.206618	0.95033	.	.	ENSG00000257411;ENSG00000170515;ENSG00000170515;ENSG00000170515;ENSG00000170515;ENSG00000170515;ENSG00000170515	ENST00000548861;ENST00000303305;ENST00000552766;ENST00000417031;ENST00000546435;ENST00000548711;ENST00000553057	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	6.03	6.03	0.97812	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	D	0.90978	0.7163	M	0.94063	3.49	0.80722	D	1	P;D;D	0.71674	0.932;0.998;0.998	P;D;D	0.80764	0.718;0.99;0.994	D	0.93081	0.6491	10	0.87932	D	0	.	15.5407	0.76043	1.0:0.0:0.0:0.0	.	53;53;53	F8VRZ3;F8VTY8;Q9UQ80	.;.;PA2G4_HUMAN	G	34;53;53;82;53;53;42	ENSP00000449770:D34G;ENSP00000302886:D53G;ENSP00000448557:D53G;ENSP00000447615:D42G	ENSP00000302886:D53G	D	+	2	0	PA2G4;RP11-603J24.9	54786708	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.815000	0.91973	2.308000	0.77769	0.533000	0.62120	GAT		0.433	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407767.1	NM_006191		20	34	0	0	0	0.055883	0	20	34					G	56500441	A	G	56500441	3	3	419	1	0	0	0	0	1	0	0	0	11361	333	12	3	164	3	PA2G4	12	56500441	Missense_Mutation	SNP	A	TCGA-FK-A3SD-01A-11D-A22D-08	29768748	56500441	77351454	29	8585											
EID3	493861	broad.mit.edu	37	chr12	104698071	104698071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttaatcagttagcattttGtgactttctgtttctgttcg	7	7	3	1			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr12:104698071G>A	ENST00000527879.1	+	1	555	c.359G>A	c.(358-360)tGt>tAt	p.C120Y	TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000354940.6_Intron	NM_001008394.2	NP_001008395.1			EP300 interacting inhibitor of differentiation 3											large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TTAGCATTTTGTGACTTTCTG	0.428																																						ENST00000527879.1																			0				large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(358-360)tGt>tAt		EP300 interacting inhibitor of differentiation 3							205	204	204					12																	104698071		1970	4155	6125	SO:0001583	missense	493861				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr12:104698071G>A	BC027612	CCDS53822.1	12q23.3	2006-11-24				ENSG00000255150			32961	protein-coding gene	gene with protein product		612986				15987788, 15752197	Standard	NM_001008394		Approved	FLJ25832, NSMCE4B, NSE4B	uc001tkw.3	Q8N140		ENST00000527879.1:c.359G>A	12.37:g.104698071G>A	ENSP00000435619:p.Cys120Tyr					TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000388854.3_Intron	p.C120Y	NM_001008394.2	NP_001008395.1	Q8N140	EID3_HUMAN			1	555	+			120						Missense_Mutation	SNP	ENST00000527879.1	37	c.359G>A	CCDS53822.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602009	0.66445	.	.	ENSG00000255150	ENST00000527879	T	0.42131	0.98	4.42	3.45	0.39498	.	.	.	.	.	T	0.48150	0.1484	L	0.51422	1.61	0.09310	N	1	P	0.40230	0.708	P	0.51170	0.661	T	0.27365	-1.0076	9	0.40728	T	0.16	.	9.8419	0.41004	0.0:0.209:0.791:0.0	.	120	Q8N140	EID3_HUMAN	Y	120	ENSP00000435619:C120Y	ENSP00000435619:C120Y	C	+	2	0	EID3	103222201	0.996000	0.38824	0.466000	0.27168	0.505000	0.33919	2.290000	0.43531	2.469000	0.83416	0.555000	0.69702	TGT		0.428	EID3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387034.1	NM_001008394		5	247	0	0	0	0.021553	0	5	247					A	104698071	G	A	104698071	3	1	419	1	0	0	0	0	1	0	0	0	4989	1377	48	2	361	2	EID3	12	104698071	Missense_Mutation	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08	48197630	104698071	29153824	30	8586											
C12orf51	283450	broad.mit.edu	37	chr12	112677750	112677751	+	Frame_Shift_Ins	INS	-	-	A													cgatagggtaacgagcacacINSagagacacaacagaggtcat							TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr12:112677750_112677751insA	ENST00000430131.2	-	32	4918_4919	c.3773_3774insT	c.(3772-3774)ctgfs	p.L1258fs	HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.L1508fs|HECTD4_ENST00000550722.1_Frame_Shift_Ins_p.L1534fs			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1258					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										AACGAGCACACAGAGACACAAC	0.465																																						ENST00000550722.1																			0											c.(4600-4602)ctgfs		HECT domain containing E3 ubiquitin protein ligase 4																																				SO:0001589	frameshift_variant	283450							g.chr12:112677750_112677751insA	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.3774dupT	12.37:g.112677751_112677751dupA	ENSP00000404379:p.Leu1258fs					HECTD4_ENST00000430131.2_Frame_Shift_Ins_p.L1258fs|HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.L1508fs	p.L1534fs	NM_001109662.3	NP_001103132.3					33	4996_4997	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Frame_Shift_Ins	INS	ENST00000430131.2	37	c.4601_4602insT																																																																																					0.465	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		8	103						8	103	---	---	---	---	A	112677751	-	A	112677750	7	5	419	1	0	1	1	0	0	0	0	0	1696	465	17	0	8392	0	C12orf51	12	112677750	Frame_Shift_Ins	INS	-	TCGA-FK-A3SD-01A-11D-A22D-08	7979679	112677750	21174145	31	8587											
PRKD1	5587	broad.mit.edu	37	chr14	30133033	30133033	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaattgttgggtattttaaAtgcacatctcttatggtaat	8	5	1	0			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr14:30133033A>G	ENST00000331968.5	-	4	797	c.568T>C	c.(568-570)Ttt>Ctt	p.F190L	PRKD1_ENST00000415220.2_Missense_Mutation_p.F190L	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	190					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GGTATTTTAAATGCACATCTC	0.403																																						ENST00000331968.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78						c.(568-570)Ttt>Ctt		protein kinase D1							148	151	150					14																	30133033		2203	4300	6503	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30133033A>G		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"Pleckstrin homology (PH) domain containing"	9407	protein-coding gene	gene with protein product		605435	"protein kinase C, mu"	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.568T>C	14.37:g.30133033A>G	ENSP00000333568:p.Phe190Leu					PRKD1_ENST00000415220.2_Missense_Mutation_p.F190L	p.F190L	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	4	797	-	Hepatocellular(127;0.0604)		190					A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.568T>C	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.436809	0.83885	.	.	ENSG00000184304	ENST00000331968;ENST00000415220;ENST00000549503	D;D;D	0.92545	-3.06;-3.06;-3.06	5.89	5.89	0.94794	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	D	0.000000	D	0.84234	0.5427	N	0.01761	-0.735	0.80722	D	1	B	0.28552	0.215	B	0.37943	0.261	D	0.83816	0.0244	10	0.49607	T	0.09	-26.9946	16.3605	0.83263	1.0:0.0:0.0:0.0	.	190	Q15139	KPCD1_HUMAN	L	190;190;113	ENSP00000333568:F190L;ENSP00000390535:F190L;ENSP00000446866:F113L	ENSP00000333568:F190L	F	-	1	0	PRKD1	29202784	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.336000	0.96533	2.260000	0.74910	0.529000	0.55759	TTT		0.403	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		12	228	0	0	0	0.11911	0	12	228					G	30133033	A	G	30133033	3	3	419	1	0	0	0	0	1	0	0	0	12518	101	4	3	2230	3	PRKD1	14	30133033	Missense_Mutation	SNP	A	TCGA-FK-A3SD-01A-11D-A22D-08		30133033	77216507	32	8588											
SULT1A1	6817	broad.mit.edu	37	chr16	28620147	28620147	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttcacgtactccagtggCgggcgggaggtgtcctggat	15	12	1	0	rs368999670		TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr16:28620147C>T	ENST00000395607.1	-	2	303	c.30G>A	c.(28-30)ccG>ccA	p.P10P	SULT1A1_ENST00000569554.1_Silent_p.P10P|SULT1A1_ENST00000314752.7_Silent_p.P10P|SULT1A1_ENST00000395609.1_Silent_p.P10P|SULT1A1_ENST00000350842.4_Intron	NM_177530.2|NM_177534.2	NP_803566.1|NP_803878.1	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	10					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|estrogen metabolic process (GO:0008210)|flavonoid metabolic process (GO:0009812)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid sulfotransferase activity (GO:0050294)|sulfotransferase activity (GO:0008146)			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16					Acetaminophen(DB00316)|Tamoxifen(DB00675)	ACTCCAGTGGCGGGCGGGAGG	0.607																																						ENST00000395609.1																			0				endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						c.(28-30)ccG>ccA		sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1		C	,,,,	2,4392		0,2,2195	49	51	51		30,30,30,30,	-4.8	0.0	16		51	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron	SULT1A1	NM_001055.3,NM_177529.2,NM_177530.2,NM_177534.2,NM_177536.3	,,,,	0,3,6494	TT,TC,CC		0.0116,0.0455,0.0231	,,,,	10/296,10/296,10/296,10/296,	28620147	3,12991	2197	4300	6497	SO:0001819	synonymous_variant	6817				3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	g.chr16:28620147C>T	U52852	CCDS10637.1, CCDS32420.1	16p12.1	2008-02-05			ENSG00000196502	ENSG00000196502	2.8.2.1	"Sulfotransferases, cytosolic"	11453	protein-coding gene	gene with protein product		171150		STP, STP1		8288252, 8912648	Standard	NM_177534		Approved	P-PST	uc002dqj.3	P50225	OTTHUMG00000131765	ENST00000395607.1:c.30G>A	16.37:g.28620147C>T						SULT1A1_ENST00000350842.4_Intron|SULT1A1_ENST00000395607.1_Silent_p.P10P|SULT1A1_ENST00000569554.1_Silent_p.P10P|SULT1A1_ENST00000314752.7_Silent_p.P10P	p.P10P			P50225	ST1A1_HUMAN			4	788	-			10					Q2NL71|Q86U58|Q92818|Q9BVU6|Q9UGG7	Silent	SNP	ENST00000395607.1	37	c.30G>A	CCDS32420.1																																																																																				0.607	SULT1A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254694.2	NM_001055		14	77	0	0	0	0.0333	0	14	77					T	28620147	C	T	28620147	2	4	419	1	0	0	0	0	0	0	0	1	15371	755	27	1		1	SULT1A1	16	28620147	Silent	SNP	C	TCGA-FK-A3SD-01A-11D-A22D-08		28620147	61734606	33	8589											
MYO1C	4641	broad.mit.edu	37	chr17	1381773	1381773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtggtgctccgccagctgGggctctccacgtcctagggc	14	16	1	0			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr17:1381773G>A	ENST00000575158.1	-	11	1297	c.1121C>T	c.(1120-1122)cCc>cTc	p.P374L	MYO1C_ENST00000361007.2_Missense_Mutation_p.P374L|MYO1C_ENST00000573198.1_5'Flank|MYO1C_ENST00000545534.2_Missense_Mutation_p.P385L|MYO1C_ENST00000359786.5_Missense_Mutation_p.P409L|MYO1C_ENST00000438665.2_Missense_Mutation_p.P390L			Q12965	MYO1E_HUMAN	myosin IC	382	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCGCCAGCTGGGGCTCTCCAC	0.652																																						ENST00000359786.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(1225-1227)cCc>cTc		myosin IC							57	65	62					17																	1381773		2203	4300	6503	SO:0001583	missense	4641				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:1381773G>A	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"Myosins / Myosin superfamily : Class I"	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.1121C>T	17.37:g.1381773G>A	ENSP00000459174:p.Pro374Leu					MYO1C_ENST00000545534.2_Missense_Mutation_p.P385L|MYO1C_ENST00000438665.2_Missense_Mutation_p.P390L|MYO1C_ENST00000361007.2_Missense_Mutation_p.P374L|MYO1C_ENST00000575158.1_Missense_Mutation_p.P374L	p.P409L	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	11	1550	-			409			Myosin head-like.		Q14778	Missense_Mutation	SNP	ENST00000575158.1	37	c.1226C>T	CCDS11003.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.283257	0.40394	.	.	ENSG00000197879	ENST00000359786;ENST00000438665;ENST00000535856;ENST00000361007;ENST00000545534;ENST00000535421	D;D;D;D	0.88431	-2.38;-2.37;-2.37;-2.37	5.73	5.73	0.89815	Myosin head, motor domain (2);	0.547722	0.21668	N	0.070918	D	0.84556	0.5498	L	0.53249	1.67	0.50813	D	0.999898	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.001;0.002;0.001	T	0.77075	-0.2722	10	0.11485	T	0.65	.	12.2297	0.54480	0.0773:0.0:0.9227:0.0	.	385;409;390	B7Z3E5;O00159;O00159-3	.;MYO1C_HUMAN;.	L	409;390;390;374;385;374	ENSP00000352834:P409L;ENSP00000412197:P390L;ENSP00000354283:P374L;ENSP00000437685:P385L	ENSP00000352834:P409L	P	-	2	0	MYO1C	1328523	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	4.313000	0.59160	2.709000	0.92574	0.563000	0.77884	CCC		0.652	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2			5	84	0	0	0	0.014758	0	5	84					A	1381773	G	A	1381773	3	1	419	1	0	0	0	0	1	0	0	0	10070	1232	43	2	2053	2	MYO1C	17	1381773	Missense_Mutation	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08		1381773	79813437	34	8590											
USP36	57602	broad.mit.edu	37	chr17	76802345	76802345	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggacggaggtcattgccGgtcgccctccacagggtgct	16	12	1	0			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr17:76802345G>A	ENST00000542802.3	-	15	2552	c.2109C>T	c.(2107-2109)acC>acT	p.T703T	USP36_ENST00000312010.6_Silent_p.T703T|USP36_ENST00000449938.2_Silent_p.T403T|USP36_ENST00000588467.1_5'Flank			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	703					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.T703T(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GGTCATTGCCGGTCGCCCTCC	0.542																																						ENST00000312010.6																			2	Substitution - coding silent(2)	p.T703T(2)	endometrium(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34						c.(2107-2109)acC>acT		ubiquitin specific peptidase 36							71	72	72					17																	76802345		2203	4300	6503	SO:0001819	synonymous_variant	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76802345G>A	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"Ubiquitin-specific peptidases"	20062	protein-coding gene	gene with protein product		612543	"ubiquitin specific protease 36"			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.2109C>T	17.37:g.76802345G>A						USP36_ENST00000449938.2_Silent_p.T403T|USP36_ENST00000542802.2_Silent_p.T703T	p.T703T	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		15	2433	-			703					Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Silent	SNP	ENST00000542802.3	37	c.2109C>T	CCDS32755.1																																																																																				0.542	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		3	108	0	0	0	0.115264	0	3	108					A	76802345	G	A	76802345	2	1	419	1	0	0	0	0	0	0	0	1	17064	1103	39	1		1	USP36	17	76802345	Silent	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08	75420572	76802345	4392865	35	8591											
NEDD4L	23327	broad.mit.edu	37	chr18	55992284	55992286	+	In_Frame_Del	DEL	TCC	TCC	-													tctcagcaccaagaggaactTcctcctcctcctctgcctcc							TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr18:55992284_55992286delTCC	ENST00000400345.3	+	9	853_855	c.570_572delTCC	c.(568-573)cttcct>ctt	p.P194del	NEDD4L_ENST00000382850.4_In_Frame_Del_p.P194del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000256832.7_In_Frame_Del_p.P73del|NEDD4L_ENST00000456986.1_In_Frame_Del_p.P73del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.P186del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.P186del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.P194del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.P194del	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	194	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AAGAGGAACTTCCTCCTCCTCCT	0.498																																						ENST00000456986.1																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						c.(205-210)ctt>ct		neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase																																				SO:0001651	inframe_deletion	0				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	g.chr18:55992284_55992286delTCC	AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"neural precursor cell expressed, developmentally down-regulated 4-like"			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.570_572delTCC	18.37:g.55992293_55992295delTCC	ENSP00000383199:p.Pro194del					NEDD4L_ENST00000431212.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.LP182del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.LP190del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.LP182del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.LP190del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.LP69del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.LP190del|NEDD4L_ENST00000400345.3_In_Frame_Del_p.LP190del|NEDD4L_ENST00000589054.1_Intron	p.LP69del	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN			9	807_809	+			190			C2.		O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	In_Frame_Del	DEL	ENST00000400345.3	37	c.207_209delTCC	CCDS45872.1																																																																																				0.498	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			7	332						7	332	---	---	---	---	-	55992286	TCC	-	55992284	7	5	419	1	0	1	0	1	0	0	0	0	10311	1770	62	0	632	0	NEDD4L	18	55992284	In_Frame_Del	DEL	TCC	TCGA-FK-A3SD-01A-11D-A22D-08		55992284	22084964	36	8592											
LSR	51599	broad.mit.edu	37	chr19	35757281	35757281	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgtatgccgccggcaaagcAgccacctcaggtgttcccag	12	14	1	0			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr19:35757281A>T	ENST00000361790.3	+	6	1101	c.942A>T	c.(940-942)gcA>gcT	p.A314A	LSR_ENST00000347609.4_Silent_p.A277A|USF2_ENST00000343550.5_5'Flank|USF2_ENST00000222305.3_5'Flank|LSR_ENST00000602122.1_Silent_p.A295A|USF2_ENST00000379134.3_5'Flank|AD000684.2_ENST00000602262.1_RNA|LSR_ENST00000360798.3_Silent_p.A246A|LSR_ENST00000354900.3_Silent_p.A295A|LSR_ENST00000427250.1_Silent_p.A158A|USF2_ENST00000594064.1_5'Flank|USF2_ENST00000595068.1_5'Flank	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	314					embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCGGCAAAGCAGCCACCTCAG	0.617																																						ENST00000602122.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13						c.(883-885)gcA>gcT		lipolysis stimulated lipoprotein receptor							89	89	89					19																	35757281		2203	4300	6503	SO:0001819	synonymous_variant	51599				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity	g.chr19:35757281A>T	AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29572	protein-coding gene	gene with protein product	"lipolysis-stimulated remnant", "immunoglobulin-like domain containing receptor 3"					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.942A>T	19.37:g.35757281A>T						LSR_ENST00000361790.3_Silent_p.A314A|LSR_ENST00000354900.3_Silent_p.A295A|LSR_ENST00000347609.4_Silent_p.A277A|LSR_ENST00000427250.1_Silent_p.A158A|LSR_ENST00000360798.3_Silent_p.A246A	p.A295A			Q86X29	LSR_HUMAN	Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		5	1372	+	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		314			Cys-rich.		A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Silent	SNP	ENST00000361790.3	37	c.885A>T	CCDS12450.1																																																																																				0.617	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2	NM_015925		7	202	0	0	0	0.047766	0	7	202					T	35757281	A	T	35757281	2	4	419	1	0	0	0	0	0	0	0	1	9064	175	7	5		5	LSR	19	35757281	Silent	SNP	A	TCGA-FK-A3SD-01A-11D-A22D-08		35757281	23371702	37	8593											
ZNF611	81856	broad.mit.edu	37	chr19	53208567	53208567	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aactctatgatggcatacaaGgtatgacctgtgactgaagg	11	7	1	4			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr19:53208567G>C	ENST00000319783.1	-	7	2057	c.1741C>G	c.(1741-1743)Ctt>Gtt	p.L581V	ZNF611_ENST00000453741.2_Missense_Mutation_p.L512V|ZNF611_ENST00000595798.1_Missense_Mutation_p.L512V|ZNF611_ENST00000540744.1_Missense_Mutation_p.L581V|ZNF611_ENST00000602046.1_5'Flank|ZNF611_ENST00000543227.1_Missense_Mutation_p.L581V|ZNF611_ENST00000602162.1_Missense_Mutation_p.L512V	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	581					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TGGCATACAAGGTATGACCTG	0.438																																						ENST00000543227.1																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1741-1743)Ctt>Gtt		zinc finger protein 611							262	238	246					19																	53208567		2203	4300	6503	SO:0001583	missense	81856				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53208567G>C	AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"Zinc fingers, C2H2-type", "-"	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.1741C>G	19.37:g.53208567G>C	ENSP00000322427:p.Leu581Val					ZNF611_ENST00000540744.1_Missense_Mutation_p.L581V|ZNF611_ENST00000595798.1_Missense_Mutation_p.L512V|ZNF611_ENST00000453741.2_Missense_Mutation_p.L512V|ZNF611_ENST00000319783.1_Missense_Mutation_p.L581V|ZNF611_ENST00000602162.1_Missense_Mutation_p.L512V	p.L581V	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)	6	2015	-			581					B3KRD5|Q69YG9	Missense_Mutation	SNP	ENST00000319783.1	37	c.1741C>G	CCDS12855.1	.	.	.	.	.	.	.	.	.	.	.	10.03	1.238397	0.22711	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	1.58	-1.42	0.08913	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.63200	0.2491	M	0.83012	2.62	0.09310	N	1	D	0.69078	0.997	D	0.69654	0.965	T	0.53457	-0.8436	9	0.66056	D	0.02	.	5.6345	0.17528	0.4699:0.0:0.5301:0.0	.	581	Q8N823	ZN611_HUMAN	V	581;581;512;581	ENSP00000437616:L581V;ENSP00000439211:L581V;ENSP00000443505:L512V;ENSP00000322427:L581V	ENSP00000322427:L581V	L	-	1	0	ZNF611	57900379	0.027000	0.19231	0.000000	0.03702	0.001000	0.01503	0.385000	0.20685	-0.501000	0.06605	-0.643000	0.03959	CTT		0.438	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972		19	399	0	0	0	0.055883	0	19	399					C	53208567	G	C	53208567	3	2	419	1	0	0	0	0	1	0	0	0	18034	1000	35	4	380	4	ZNF611	19	53208567	Missense_Mutation	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08	17451286	53208567	5920416	38	8594											
MAGEB3	4114	broad.mit.edu	37	chrX	30254993	30254993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagagatgaggaagaaagaGtccaagctgcagctatgctc	13	7	0	5			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chrX:30254993G>A	ENST00000361644.2	+	5	1689	c.952G>A	c.(952-954)Gtc>Atc	p.V318I		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	318										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						GGAAGAAAGAGTCCAAGCTGC	0.502																																						ENST00000361644.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						c.(952-954)Gtc>Atc		melanoma antigen family B, 3							85	71	76					X																	30254993		2202	4300	6502	SO:0001583	missense	4114							g.chrX:30254993G>A	AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 5"	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.952G>A	X.37:g.30254993G>A	ENSP00000355198:p.Val318Ile					MAGEB3_ENST00000378986.1_Missense_Mutation_p.V318I	p.V318I	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN			5	1689	+			318					A0AVE4|B3KQ52|O75861	Missense_Mutation	SNP	ENST00000361644.2	37	c.952G>A	CCDS14220.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320572	0.23994	.	.	ENSG00000198798	ENST00000378986;ENST00000361644	T;T	0.01665	4.7;4.7	4.01	1.47	0.22746	.	1.209690	0.06625	U	0.758179	T	0.02455	0.0075	L	0.47190	1.495	0.09310	N	1	B	0.15930	0.015	B	0.15870	0.014	T	0.46331	-0.9199	10	0.87932	D	0	.	5.3521	0.16042	0.3695:0.0:0.6305:0.0	.	318	O15480	MAGB3_HUMAN	I	318	ENSP00000368271:V318I;ENSP00000355198:V318I	ENSP00000355198:V318I	V	+	1	0	MAGEB3	30164914	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.569000	0.05902	0.172000	0.19760	-0.192000	0.12808	GTC		0.502	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056158.2	NM_002365		3	40	0	0	0	0.009096	0	3	40					A	30254993	G	A	30254993	3	1	419	1	0	0	0	0	1	0	0	0	9177	1029	36	2	954	2	MAGEB3	23	30254993	Missense_Mutation	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08		30254993	125015567	39	8595											
PAK3	5063	broad.mit.edu	37	chrX	110406220	110406220	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggaagaagaagaagaAgatgaaaatgagccaccacc	12	6	0	8			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chrX:110406220A>T	ENST00000372010.1	+	10	1033	c.591A>T	c.(589-591)gaA>gaT	p.E197D	PAK3_ENST00000446737.1_Missense_Mutation_p.E182D|PAK3_ENST00000360648.4_Missense_Mutation_p.E218D|PAK3_ENST00000417227.1_Missense_Mutation_p.E203D|PAK3_ENST00000372007.5_Missense_Mutation_p.E182D|PAK3_ENST00000519681.1_Missense_Mutation_p.E203D|PAK3_ENST00000262836.4_Missense_Mutation_p.E197D|PAK3_ENST00000518291.1_Missense_Mutation_p.E218D|PAK3_ENST00000425146.1_Missense_Mutation_p.E182D			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	197	Linker.|Poly-Glu.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.E182D(1)|p.E218D(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						aagaagaagaagatgaaAATG	0.403										TSP Lung(19;0.15)																												ENST00000519681.1																			2	Substitution - Missense(2)	p.E182D(1)|p.E218D(1)	endometrium(2)	breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(607-609)gaA>gaT		p21 protein (Cdc42/Rac)-activated kinase 3							156	136	143					X																	110406220		2203	4300	6503	SO:0001583	missense	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110406220A>T	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"mental retardation, X-linked 47", "p21 (CDKN1A)-activated kinase 3"	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.591A>T	X.37:g.110406220A>T	ENSP00000361080:p.Glu197Asp	TSP Lung(19;0.15)				PAK3_ENST00000372010.1_Missense_Mutation_p.E197D|PAK3_ENST00000360648.4_Missense_Mutation_p.E218D|PAK3_ENST00000518291.1_Missense_Mutation_p.E218D|PAK3_ENST00000262836.4_Missense_Mutation_p.E197D|PAK3_ENST00000446737.1_Missense_Mutation_p.E182D|PAK3_ENST00000425146.1_Missense_Mutation_p.E182D|PAK3_ENST00000417227.1_Missense_Mutation_p.E203D|PAK3_ENST00000372007.4_Missense_Mutation_p.E182D	p.E203D			O75914	PAK3_HUMAN			10	1051	+			197			Linker.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Missense_Mutation	SNP	ENST00000372010.1	37	c.609A>T	CCDS48153.1	.	.	.	.	.	.	.	.	.	.	A	12.00	1.807573	0.31961	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000360648;ENST00000417227;ENST00000262836	T;T;T;T;T;T;T;T;T	0.73047	-0.69;-0.69;-0.71;-0.71;-0.69;-0.7;-0.7;-0.71;-0.71	5.95	3.63	0.41609	.	0.063753	0.64402	D	0.000011	T	0.40272	0.1110	N	0.05441	-0.05	0.36081	D	0.842782	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.001;0.001;0.001	T	0.40590	-0.9555	10	0.06365	T	0.9	.	4.7506	0.13059	0.7052:0.0:0.1397:0.155	.	203;218;197;182	O75914-4;O75914-3;O75914;O75914-2	.;.;PAK3_HUMAN;.	D	182;182;197;203;182;218;218;203;197	ENSP00000410853:E182D;ENSP00000401982:E182D;ENSP00000361080:E197D;ENSP00000429113:E203D;ENSP00000361077:E182D;ENSP00000428921:E218D;ENSP00000353864:E218D;ENSP00000389172:E203D;ENSP00000262836:E197D	ENSP00000262836:E197D	E	+	3	2	PAK3	110292876	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.057000	0.30492	1.999000	0.58509	0.486000	0.48141	GAA		0.403	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		4	117	0	0	0	0.009096	0	4	117					T	110406220	A	T	110406220	3	4	419	1	0	0	0	0	1	0	0	0	11402	69	3	5	680	5	PAK3	23	110406220	Missense_Mutation	SNP	A	TCGA-FK-A3SD-01A-11D-A22D-08	80151227	110406220	44864340	40	8596											
ZC3H11A	9877	broad.mit.edu	37	chr1	203821424	203821424	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatgattttgagaaactaaTatgggagatttcaggaggca	13	3	1	3			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr1:203821424T>C	ENST00000545588.1	+	17	6157	c.2330T>C	c.(2329-2331)aTa>aCa	p.I777T	ZC3H11A_ENST00000367214.1_Missense_Mutation_p.I777T|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.I777T	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	777					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAGAAACTAATATGGGAGATT	0.473																																						ENST00000545588.1																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(2329-2331)aTa>aCa		zinc finger CCCH-type containing 11A							55	56	56					1																	203821424		2203	4300	6503	SO:0001583	missense	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203821424T>C		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"Zinc fingers, CCCH-type domain containing"	29093	protein-coding gene	gene with protein product		613513	"zinc finger CCCH-type domain containing 11A"	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.2330T>C	1.37:g.203821424T>C	ENSP00000438527:p.Ile777Thr					ZC3H11A_ENST00000367210.1_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.I777T|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.I777T	p.I777T	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		17	6157	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		777					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	ENST00000545588.1	37	c.2330T>C	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	T	11.48	1.650267	0.29336	.	.	ENSG00000058673	ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.61540	0.2355	M	0.77103	2.36	0.50467	D	0.999873	B	0.18461	0.028	B	0.24269	0.052	T	0.60454	-0.7260	10	0.46703	T	0.11	-25.6355	14.9374	0.70967	0.0:0.0:0.0:1.0	.	777	O75152	ZC11A_HUMAN	T	777;723;777;777;777;777	ENSP00000356183:I777T;ENSP00000356181:I777T;ENSP00000333253:I777T;ENSP00000438527:I777T;ENSP00000356179:I777T	ENSP00000333253:I777T	I	+	2	0	ZC3H11A	202088047	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	6.379000	0.73154	2.171000	0.68590	0.528000	0.53228	ATA		0.473	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		5	77	0	0	0	1	0	5	77					C	203821424	T	C	203821424	3	2	420	1	0	0	0	0	1	0	0	0	17557	1406	49	3	2392	3	ZC3H11A	1	203821424	Missense_Mutation	SNP	T	TCGA-FK-A3SE-01A-11D-A22D-08		203821424	45429197	1	8597											
NCL	4691	broad.mit.edu	37	chr2	232326634	232326634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacagctgctttcttggctGgtgtggcaactgcaaccttt	11	10	1	1			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr2:232326634G>A	ENST00000322723.4	-	3	470	c.230C>T	c.(229-231)cCa>cTa	p.P77L	SNORD82_ENST00000365530.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	77	8 X 8 AA tandem repeats of X-T-P-X-K-K-X- X.				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TTTCTTGGCTGGTGTGGCAAC	0.512																																						ENST00000322723.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35						c.(229-231)cCa>cTa		nucleolin							186	181	183					2																	232326634		2203	4300	6503	SO:0001583	missense	4691				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding	g.chr2:232326634G>A		CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"RNA binding motif (RRM) containing"	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.230C>T	2.37:g.232326634G>A	ENSP00000318195:p.Pro77Leu						p.P77L	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)	3	470	-		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)	77			8 X 8 AA tandem repeats of X-T-P-X-K-K-X- X.		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	ENST00000322723.4	37	c.230C>T	CCDS33397.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.846316	0.71603	.	.	ENSG00000115053	ENST00000322723;ENST00000322732;ENST00000454824;ENST00000417652;ENST00000453992;ENST00000436894	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	5.37	5.37	0.77165	.	0.115688	0.64402	D	0.000014	T	0.40595	0.1123	L	0.55990	1.75	0.80722	D	1	D	0.55605	0.972	P	0.48304	0.573	T	0.35450	-0.9788	10	0.87932	D	0	-15.3601	18.1506	0.89672	0.0:0.0:1.0:0.0	.	77	P19338	NUCL_HUMAN	L	77;77;61;61;61;61	ENSP00000318195:P77L;ENSP00000401620:P61L;ENSP00000392747:P61L;ENSP00000413775:P61L;ENSP00000401322:P61L	ENSP00000318195:P77L	P	-	2	0	NCL	232034878	1.000000	0.71417	0.950000	0.38849	0.833000	0.47200	7.237000	0.78164	2.528000	0.85240	0.650000	0.86243	CCA		0.512	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381		4	190	0	0	0	1	0	4	190					A	232326634	G	A	232326634	3	1	420	1	0	0	0	0	1	0	0	0	10226	1348	47	2	1950	2	NCL	2	232326634	Missense_Mutation	SNP	G	TCGA-FK-A3SE-01A-11D-A22D-08		232326634	10872739	2	8598											
LRRFIP1	9208	broad.mit.edu	37	chr2	238667405	238667405	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaaagagttctttgattccGtaaggagtgaacgggatgat	13	4	1	5			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr2:238667405G>T	ENST00000392000.4	+	10	864				LRRFIP1_ENST00000289175.6_Intron|LRRFIP1_ENST00000244815.5_Intron|LRRFIP1_ENST00000308482.9_Missense_Mutation_p.V420L	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1						innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		CTTTGATTCCGTAAGGAGTGA	0.383																																						ENST00000308482.9																			0				NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(1258-1260)Gta>Tta		leucine rich repeat (in FLII) interacting protein 1							147	138	141					2																	238667405		1568	3582	5150	SO:0001627	intron_variant	9208				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding	g.chr2:238667405G>T	AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"GC-binding factor 2"	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.748-1302G>T	2.37:g.238667405G>T						LRRFIP1_ENST00000392000.4_Intron|LRRFIP1_ENST00000289175.6_Intron|LRRFIP1_ENST00000244815.5_Intron	p.V420L	NM_001137550.1	NP_001131022.1	Q32MZ4	LRRF1_HUMAN		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)	18	1327	+		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	288					E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	ENST00000392000.4	37	c.1258G>T	CCDS46552.1	.	.	.	.	.	.	.	.	.	.	G	7.382	0.629073	0.14257	.	.	ENSG00000124831	ENST00000308482;ENST00000391999	T	0.26223	1.75	5.73	-6.45	0.01914	.	.	.	.	.	T	0.10294	0.0252	N	0.11313	0.125	0.80722	D	1	B	0.24675	0.109	B	0.30316	0.114	T	0.39396	-0.9616	9	0.02654	T	1	.	12.504	0.55972	0.32:0.1056:0.5745:0.0	.	420	E9PGZ2	.	L	420;410	ENSP00000310109:V420L	ENSP00000310109:V420L	V	+	1	0	LRRFIP1	238332144	0.994000	0.37717	0.841000	0.33234	0.993000	0.82548	0.601000	0.24119	-1.121000	0.02949	-0.302000	0.09304	GTA		0.383	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735		48	66	1	0	8.43275e-48	1	8.66066e-48	48	66					T	238667405	G	T	238667405	1	4	420	0	1	0	0	0	0	0	0	0	9027	1145	40	4		4	LRRFIP1	2	238667405	Intron	SNP	G	TCGA-FK-A3SE-01A-11D-A22D-08	6340771	238667405	4531968	3	8599											
CCDC39	339829	broad.mit.edu	37	chr3	180370001	180370001	+	Frame_Shift_Del	DEL	C	C	-													atcttggaaatatttttcctCagagcttctaaatcactgga							TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr3:180370001delC	ENST00000442201.2	-	8	1103	c.984delG	c.(982-984)ctgfs	p.L328fs	CCDC39_ENST00000273654.4_Frame_Shift_Del_p.L412fs	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	328					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TATTTTTCCTCAGAGCTTCTA	0.274																																						ENST00000273654.4																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45						c.(1234-1236)ctfs		coiled-coil domain containing 39							30	28	28					3																	180370001		1729	3892	5621	SO:0001589	frameshift_variant	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180370001delC	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.984delG	3.37:g.180370001delC	ENSP00000405708:p.Leu328fs					CCDC39_ENST00000442201.2_Frame_Shift_Del_p.L328fs	p.L412fs			Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		14	1855	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		328					B4E2H1	Frame_Shift_Del	DEL	ENST00000442201.2	37	c.1236delG	CCDS46964.1																																																																																				0.274	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		2	4						2	4	---	---	---	---	-	180370001	C	-	180370001	7	5	420	1	0	1	0	1	0	0	0	0	2811	813	29	0	1893	0	CCDC39	3	180370001	Frame_Shift_Del	DEL	C	TCGA-FK-A3SE-01A-11D-A22D-08		180370001	17652429	4	8600											
TERT	7015	broad.mit.edu	37	chr5	1280418	1280418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgcctgacctctgcttccGacagctcccgcagctgcacc	9	19	1	1			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr5:1280418G>A	ENST00000310581.5	-	4	1862	c.1805C>T	c.(1804-1806)tCg>tTg	p.S602L	TERT_ENST00000334602.6_Missense_Mutation_p.S602L|TERT_ENST00000508104.2_Missense_Mutation_p.S602L|TERT_ENST00000296820.5_Missense_Mutation_p.S602L	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	602					DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	CTCTGCTTCCGACAGCTCCCG	0.632									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													ENST00000310581.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41						c.(1804-1806)tCg>tTg		telomerase reverse transcriptase							56	53	54					5																	1280418		2203	4300	6503	SO:0001583	missense	0	TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1280418G>A	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.1805C>T	5.37:g.1280418G>A	ENSP00000309572:p.Ser602Leu					TERT_ENST00000508104.2_Missense_Mutation_p.S602L|TERT_ENST00000334602.6_Missense_Mutation_p.S602L|TERT_ENST00000296820.5_Missense_Mutation_p.S602L	p.S602L	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		4	1862	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		602					O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	c.1805C>T	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614482	0.46631	.	.	ENSG00000164362	ENST00000310581;ENST00000296820;ENST00000334602;ENST00000508104	D;D;D;D	0.97114	-4.25;-4.19;-4.14;-4.19	4.48	4.48	0.54585	.	0.123713	0.56097	D	0.000039	D	0.98124	0.9381	M	0.80183	2.485	0.33997	D	0.649852	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.69479	0.928;0.964;0.849	D	0.99971	1.2000	10	0.66056	D	0.02	-2.4207	14.0835	0.64939	0.0:0.0:1.0:0.0	.	602;602;602	O14746-3;O14746;Q8NG38	.;TERT_HUMAN;.	L	602	ENSP00000309572:S602L;ENSP00000296820:S602L;ENSP00000334346:S602L;ENSP00000426042:S602L	ENSP00000296820:S602L	S	-	2	0	TERT	1333418	0.772000	0.28567	0.185000	0.23176	0.093000	0.18481	5.177000	0.65032	2.038000	0.60285	0.407000	0.27541	TCG		0.632	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			5	82	0	0	0	1	0	5	82					A	1280418	G	A	1280418	3	1	420	1	0	0	0	0	1	0	0	0	15761	1059	37	1	1645	1	TERT	5	1280418	Missense_Mutation	SNP	G	TCGA-FK-A3SE-01A-11D-A22D-08		1280418	179634842	5	8601											
ELL2	22936	broad.mit.edu	37	chr5	95297410	95297410	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcccgcaggccccctgTcccccccgccgccatcttaa	6	24	1	0			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr5:95297410T>C	ENST00000237853.4	-	1	365	c.16A>G	c.(16-18)Aca>Gca	p.T6A	CTD-2337A12.1_ENST00000511775.1_RNA|ELL2_ENST00000431061.2_Missense_Mutation_p.T6A|ELL2_ENST00000506628.1_5'UTR|CTD-2337A12.1_ENST00000502645.2_RNA	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	6					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		AGGCCCCCTGTCCCCCCCGCC	0.711																																						ENST00000237853.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24						c.(16-18)Aca>Gca		elongation factor, RNA polymerase II, 2							20	18	19					5																	95297410		2196	4294	6490	SO:0001583	missense	22936				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex		g.chr5:95297410T>C	U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.16A>G	5.37:g.95297410T>C	ENSP00000237853:p.Thr6Ala					ELL2_ENST00000506628.1_5'UTR|ELL2_ENST00000431061.2_Missense_Mutation_p.T6A	p.T6A	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN		all cancers(79;2.16e-15)	1	365	-		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)	6					B4DNK7	Missense_Mutation	SNP	ENST00000237853.4	37	c.16A>G	CCDS4080.1	.	.	.	.	.	.	.	.	.	.	T	6.224	0.409420	0.11812	.	.	ENSG00000118985	ENST00000237853;ENST00000431061;ENST00000513343	T;T	0.27720	2.06;1.65	4.58	1.76	0.24704	.	2.221920	0.01975	N	0.044397	T	0.14356	0.0347	N	0.08118	0	0.19775	N	0.999953	B	0.02656	0.0	B	0.01281	0.0	T	0.25082	-1.0142	10	0.02654	T	1	.	4.7869	0.13229	0.1519:0.5934:0.0:0.2547	.	6	O00472	ELL2_HUMAN	A	6	ENSP00000237853:T6A;ENSP00000423915:T6A	ENSP00000237853:T6A	T	-	1	0	ELL2	95323166	0.998000	0.40836	0.995000	0.50966	0.278000	0.26855	0.417000	0.21214	0.153000	0.19213	-1.070000	0.02257	ACA		0.711	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242846.1	NM_012081		7	46	0	0	0	1	0	7	46					C	95297410	T	C	95297410	3	2	420	1	0	0	0	0	1	0	0	0	5063	1667	58	3	1954	3	ELL2	5	95297410	Missense_Mutation	SNP	T	TCGA-FK-A3SE-01A-11D-A22D-08	94016992	95297410	85617850	6	8602											
ZCCHC10	54819	broad.mit.edu	37	chr5	132334494	132334494	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctctgatgaagaatcactGgcagaactgtcactgctact	8	11	3	4			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr5:132334494G>A	ENST00000509437.1	-	5	367	c.360C>T	c.(358-360)gcC>gcT	p.A120A	ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000509008.1_3'UTR|ZCCHC10_ENST00000324170.3_Silent_p.A98A|ZCCHC10_ENST00000513541.1_3'UTR|ZCCHC10_ENST00000513848.1_Silent_p.A84A|ZCCHC10_ENST00000355372.2_Silent_p.A114A			Q8TBK6	ZCH10_HUMAN	zinc finger, CCHC domain containing 10	120	Ser-rich.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGAATCACTGGCAGAACTGT	0.438																																						ENST00000324170.3																			0				skin(1)	1						c.(292-294)gcC>gcT		zinc finger, CCHC domain containing 10							143	133	136					5																	132334494		2203	4300	6503	SO:0001819	synonymous_variant	54819						nucleic acid binding|zinc ion binding	g.chr5:132334494G>A	BC005211	CCDS4165.1, CCDS75300.1, CCDS75301.1, CCDS75302.1	5q31.1	2008-05-02			ENSG00000155329	ENSG00000155329		"Zinc fingers, CCHC domain containing"	25954	protein-coding gene	gene with protein product						12477932	Standard	XM_005272024		Approved	FLJ20094	uc003kyg.3	Q8TBK6	OTTHUMG00000129013	ENST00000509437.1:c.360C>T	5.37:g.132334494G>A						ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000509008.1_3'UTR|ZCCHC10_ENST00000509437.1_Silent_p.A120A|ZCCHC10_ENST00000355372.2_Silent_p.A114A|ZCCHC10_ENST00000513541.1_3'UTR|ZCCHC10_ENST00000513848.1_Silent_p.A84A	p.A98A	NM_017665.1	NP_060135.1	Q8TBK6	ZCH10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	360	-			120					Q9NXR4	Silent	SNP	ENST00000509437.1	37	c.294C>T																																																																																					0.438	ZCCHC10-004	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000370163.1	NM_017665		48	69	0	0	0	1	0	48	69					A	132334494	G	A	132334494	2	1	420	1	0	0	0	0	0	0	0	1	17576	1335	47	2		2	ZCCHC10	5	132334494	Silent	SNP	G	TCGA-FK-A3SE-01A-11D-A22D-08	37037084	132334494	48580766	7	8603											
EPHB6	2051	broad.mit.edu	37	chr7	142561867	142561867	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgcggggcccagagggcGcacattcgactccacttctc	13	16	1	1	rs370537878		TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr7:142561867G>A	ENST00000392957.2	+	7	1096	c.309G>A	c.(307-309)gcG>gcA	p.A103A	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Silent_p.A103A	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	103	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCCAGAGGGCGCACATTCGAC	0.647																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(307-309)gcG>gcA		EPH receptor B6		G		1,4405	2.1+/-5.4	0,1,2202	85	96	92		309	-11.2	0.0	7		92	0,8600		0,0,4300	no	coding-synonymous	EPHB6	NM_004445.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		103/1022	142561867	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142561867G>A	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.309G>A	7.37:g.142561867G>A						EPHB6_ENST00000442129.1_Silent_p.A103A|EPHB6_ENST00000411471.2_Intron	p.A103A	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			7	1096	+	Melanoma(164;0.059)		103					A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	ENST00000392957.2	37	c.309G>A	CCDS5873.2																																																																																				0.647	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			5	307	0	0	0	1	0	5	307					A	142561867	G	A	142561867	2	1	420	1	0	0	0	0	0	0	0	1	5178	1074	38	1		1	EPHB6	7	142561867	Silent	SNP	G	TCGA-FK-A3SE-01A-11D-A22D-08		142561867	16576796	8	8604											
C9orf69	90120	broad.mit.edu	37	chr9	139008660	139008660	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgggccaggtgggaggcGcgcacgggcccgcaggccgc	21	14	0	0			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr9:139008660G>A	ENST00000418388.1	-	2	589	c.87C>T	c.(85-87)cgC>cgT	p.R29R	C9orf69_ENST00000561457.1_Missense_Mutation_p.A54V			H0YL14	CI069_HUMAN	chromosome 9 open reading frame 69	29					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of viral process (GO:0048524)|viral process (GO:0016032)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)			endometrium(1)	1		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06)		GGTGGGAGGCGCGCACGGGCC	0.667																																						ENST00000561457.1																			0				endometrium(1)	1						c.(160-162)gCg>gTg		chromosome 9 open reading frame 69							35	43	40					9																	139008660		1966	4128	6094	SO:0001819	synonymous_variant	90120							g.chr9:139008660G>A		CCDS59155.1	9q34.3	2012-11-26	2012-07-05	2012-07-05	ENSG00000238227	ENSG00000238227			31009	protein-coding gene	gene with protein product						21667337	Standard	NM_152833		Approved	bA83N9.1	uc004cgx.5	H0YL14	OTTHUMG00000020922	ENST00000418388.1:c.87C>T	9.37:g.139008660G>A						C9orf69_ENST00000418388.1_Silent_p.R29R	p.A54V	NM_152833.2	NP_690046.3				OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06)	2	611	-		Myeloproliferative disorder(178;0.0511)							Missense_Mutation	SNP	ENST00000418388.1	37	c.161C>T	CCDS59155.1																																																																																				0.667	C9orf69-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055043.3	NM_152833		12	20	0	0	0	1	0	12	20					A	139008660	G	A	139008660	2	1	420	1	0	0	0	0	0	0	0	1	2492	1087	38	1		1	C9orf69	9	139008660	Silent	SNP	G	TCGA-FK-A3SE-01A-11D-A22D-08		139008660	2204771	9	8605											
PPRC1	23082	broad.mit.edu	37	chr10	103898733	103898733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacaggcagcagtagagggaGtggggtaagcctgacctaga	16	7	0	3			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr10:103898733G>A	ENST00000278070.2	+	4	626	c.587G>A	c.(586-588)aGt>aAt	p.S196N	PPRC1_ENST00000413464.2_Missense_Mutation_p.S196N|PPRC1_ENST00000370012.1_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	196					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGTAGAGGGAGTGGGGTAAGC	0.557																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(586-588)aGt>aAt		peroxisome proliferator-activated receptor gamma, coactivator-related 1							57	63	61					10																	103898733		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103898733G>A	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.587G>A	10.37:g.103898733G>A	ENSP00000278070:p.Ser196Asn					PPRC1_ENST00000413464.2_Missense_Mutation_p.S196N	p.S196N	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	4	626	+		Colorectal(252;0.122)	196					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.587G>A	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119789	0.37436	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.59364	0.27;0.27	4.5	0.519	0.17035	.	0.449943	0.22173	N	0.063604	T	0.33381	0.0861	N	0.19112	0.55	0.25122	N	0.990637	B;B;B	0.11235	0.003;0.004;0.001	B;B;B	0.11329	0.003;0.006;0.004	T	0.17198	-1.0377	10	0.59425	D	0.04	.	1.0618	0.01602	0.2692:0.1543:0.4179:0.1585	.	196;76;196	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	N	196	ENSP00000278070:S196N;ENSP00000399743:S196N	ENSP00000278070:S196N	S	+	2	0	PPRC1	103888723	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	0.681000	0.25320	0.011000	0.14865	0.561000	0.74099	AGT		0.557	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		3	86	0	0	0	1	0	3	86					A	103898733	G	A	103898733	3	1	420	1	0	0	0	0	1	0	0	0	12410	1029	36	2	601	2	PPRC1	10	103898733	Missense_Mutation	SNP	G	TCGA-FK-A3SE-01A-11D-A22D-08		103898733	31636014	10	8606											
TSPAN4	7106	broad.mit.edu	37	chr11	864455	864455	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agttcttcctgctgctgctgCtggtgttcctgctggaggcc	13	12	1	0			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr11:864455C>G	ENST00000397404.1	+	5	533	c.274C>G	c.(274-276)Ctg>Gtg	p.L92V	TSPAN4_ENST00000346501.4_Missense_Mutation_p.L92V|TSPAN4_ENST00000397397.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000397406.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000409543.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000397408.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000409531.1_Missense_Mutation_p.L111V|TSPAN4_ENST00000397396.1_Missense_Mutation_p.L28V|TSPAN4_ENST00000397411.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000525201.1_Missense_Mutation_p.L28V	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	92					protein complex assembly (GO:0006461)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	antigen binding (GO:0003823)|integrin binding (GO:0005178)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTGCTGCTGCTGGTGTTCCT	0.672																																						ENST00000397404.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3						c.(274-276)Ctg>Gtg		tetraspanin 4							98	95	96					11																	864455		2203	4299	6502	SO:0001583	missense	0				protein complex assembly	integral to plasma membrane		g.chr11:864455C>G	AF022813	CCDS7721.1, CCDS41589.1	11p15.5	2013-02-14	2005-03-21	2005-03-21	ENSG00000214063	ENSG00000214063		"Tetraspanins"	11859	protein-coding gene	gene with protein product		602644	"transmembrane 4 superfamily member 7"	TM4SF7		9360996	Standard	XM_005253102		Approved	NAG-2, TSPAN-4, TETRASPAN	uc001lsf.1	O14817	OTTHUMG00000133305	ENST00000397404.1:c.274C>G	11.37:g.864455C>G	ENSP00000380553:p.Leu92Val					TSPAN4_ENST00000397411.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000346501.4_Missense_Mutation_p.L92V|TSPAN4_ENST00000525201.1_Missense_Mutation_p.L28V|TSPAN4_ENST00000397397.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000397406.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000397408.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000397396.1_Missense_Mutation_p.L28V|TSPAN4_ENST00000409531.1_Missense_Mutation_p.L111V|TSPAN4_ENST00000409543.2_Missense_Mutation_p.L92V	p.L92V	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	533	+		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	92					Q6IAP6	Missense_Mutation	SNP	ENST00000397404.1	37	c.274C>G	CCDS7721.1	.	.	.	.	.	.	.	.	.	.	C	7.339	0.620549	0.14193	.	.	ENSG00000214063	ENST00000397397;ENST00000397411;ENST00000397396;ENST00000397408;ENST00000525334;ENST00000397406;ENST00000409543;ENST00000525201;ENST00000397404;ENST00000532375;ENST00000346501;ENST00000409531;ENST00000527644	T;T;T;T;T;T;T;T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36	3.04	1.98	0.26296	.	0.388801	0.23310	N	0.049564	T	0.54431	0.1858	N	0.04508	-0.205	0.32506	N	0.538191	B	0.12013	0.005	B	0.15870	0.014	T	0.53493	-0.8431	10	0.17369	T	0.5	.	6.829	0.23898	0.4405:0.5595:0.0:0.0	.	92	O14817	TSN4_HUMAN	V	92;92;28;92;28;92;92;28;92;28;92;111;92	ENSP00000380552:L92V;ENSP00000380558:L92V;ENSP00000380551:L28V;ENSP00000380555:L92V;ENSP00000433980:L28V;ENSP00000380554:L92V;ENSP00000386513:L92V;ENSP00000431943:L28V;ENSP00000380553:L92V;ENSP00000434818:L28V;ENSP00000324304:L92V;ENSP00000386899:L111V;ENSP00000436260:L92V	ENSP00000324304:L92V	L	+	1	2	TSPAN4	854455	0.162000	0.22906	1.000000	0.80357	0.819000	0.46315	0.131000	0.15870	1.557000	0.49525	0.313000	0.20887	CTG		0.672	TSPAN4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257102.2			3	198	0	0	0	1	0	3	198					G	864455	C	G	864455	3	3	420	1	0	0	0	0	1	0	0	0	16646	796	28	4	284	4	TSPAN4	11	864455	Missense_Mutation	SNP	C	TCGA-FK-A3SE-01A-11D-A22D-08		864455	134142061	11	8607											
AMHR2	269	broad.mit.edu	37	chr12	53819001	53819001	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggctgttcctcctcctcctGctgctgctgggcagcatcat	11	15	1	0			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr12:53819001G>C	ENST00000257863.4	+	4	557	c.477G>C	c.(475-477)ctG>ctC	p.L159L	AMHR2_ENST00000550311.1_Silent_p.L159L|AMHR2_ENST00000379791.3_Silent_p.L159L	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	159					Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	TCCTCCTCCTGCTGCTGCTGG	0.587																																						ENST00000257863.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34						c.(475-477)ctG>ctC		anti-Mullerian hormone receptor, type II	Adenosine triphosphate(DB00171)						183	141	155					12																	53819001		2203	4300	6503	SO:0001819	synonymous_variant	269				Mullerian duct regression		ATP binding|hormone binding|metal ion binding	g.chr12:53819001G>C	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"Muellerian inhibiting substance type II receptor"	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.477G>C	12.37:g.53819001G>C						AMHR2_ENST00000550311.1_Silent_p.L159L|AMHR2_ENST00000379791.3_Silent_p.L159L	p.L159L	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN			4	557	+			159					A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Silent	SNP	ENST00000257863.4	37	c.477G>C	CCDS8858.1																																																																																				0.587	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547		3	169	0	0	0	1	0	3	169					C	53819001	G	C	53819001	2	2	420	1	0	0	0	0	0	0	0	1	573	1306	46	4		4	AMHR2	12	53819001	Silent	SNP	G	TCGA-FK-A3SE-01A-11D-A22D-08		53819001	80032894	12	8608											
MYH7	4625	broad.mit.edu	37	chr14	23898270	23898270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccatccagttgaacatcCtctcatacactgccttggcc	5	16	2	1			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr14:23898270C>T	ENST00000355349.3	-	14	1463	c.1301G>A	c.(1300-1302)aGg>aAg	p.R434K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	434	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|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)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTTGAACATCCTCTCATACAC	0.542																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(1300-1302)aGg>aAg		myosin, heavy chain 7, cardiac muscle, beta							144	127	133					14																	23898270		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23898270C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.1301G>A	14.37:g.23898270C>T	ENSP00000347507:p.Arg434Lys						p.R434K	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	14	1463	-	all_cancers(95;2.54e-05)		434			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.1301G>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	c	1.349	-0.591893	0.03799	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.88664	-2.41	4.18	-2.61	0.06171	Myosin head, motor domain (2);	.	.	.	.	T	0.78419	0.4280	N	0.25825	0.765	0.21782	N	0.999541	B	0.02656	0.0	B	0.01281	0.0	T	0.59440	-0.7454	9	0.10902	T	0.67	.	11.4013	0.49873	0.0:0.3619:0.0:0.6381	.	434	P12883	MYH7_HUMAN	K	434	ENSP00000347507:R434K	ENSP00000347507:R434K	R	-	2	0	MYH7	22968110	0.983000	0.35010	0.980000	0.43619	0.520000	0.34377	0.109000	0.15417	-0.725000	0.04901	-1.662000	0.00750	AGG		0.542	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		4	172	0	0	0	1	0	4	172					T	23898270	C	T	23898270	3	4	420	1	0	0	0	0	1	0	0	0	10039	681	24	2	4614	2	MYH7	14	23898270	Missense_Mutation	SNP	C	TCGA-FK-A3SE-01A-11D-A22D-08		23898270	83451270	13	8609											
SLC12A4	6560	broad.mit.edu	37	chr16	67986272	67986272	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atattgttcaaagtggcattCgacgtgtcatgagcacccga	10	9	2	1	rs372226074		TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr16:67986272C>T	ENST00000316341.3	-	7	872	c.732G>A	c.(730-732)tcG>tcA	p.S244S	SLC12A4_ENST00000541864.2_Silent_p.S213S|SLC12A4_ENST00000537830.2_Silent_p.S238S|SLC12A4_ENST00000338335.3_Silent_p.S244S|SLC12A4_ENST00000422611.2_Silent_p.S246S|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000572037.1_Silent_p.S196S|SLC12A4_ENST00000576616.1_Silent_p.S244S	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	244					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	AAGTGGCATTCGACGTGTCAT	0.453																																						ENST00000422611.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(736-738)tcG>tcA		solute carrier family 12 (potassium/chloride transporter), member 4	Bumetanide(DB00887)|Potassium Chloride(DB00761)	C	,,,,	1,4395	2.1+/-5.4	0,1,2197	185	171	176		732,738,714,639,732	-8.1	0.1	16		176	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC12A4	NM_001145961.1,NM_001145962.1,NM_001145963.1,NM_001145964.1,NM_005072.4	,,,,	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	,,,,	244/1080,246/1088,238/1080,213/1055,244/1086	67986272	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67986272C>T		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"Solute carriers"	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.732G>A	16.37:g.67986272C>T						SLC12A4_ENST00000572037.1_Silent_p.S196S|SLC12A4_ENST00000537830.2_Silent_p.S238S|SLC12A4_ENST00000576616.1_Silent_p.S244S|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000338335.3_Silent_p.S244S|SLC12A4_ENST00000541864.2_Silent_p.S213S|SLC12A4_ENST00000316341.3_Silent_p.S244S	p.S246S	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	6	777	-		Ovarian(137;0.192)	244					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Silent	SNP	ENST00000316341.3	37	c.738G>A	CCDS10855.1																																																																																				0.453	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		48	85	0	0	0	1	0	48	85					T	67986272	C	T	67986272	2	4	420	1	0	0	0	0	0	0	0	1	14385	871	31	1		1	SLC12A4	16	67986272	Silent	SNP	C	TCGA-FK-A3SE-01A-11D-A22D-08		67986272	22368481	14	8610											
CASKIN2	57513	broad.mit.edu	37	chr17	73498980	73498980	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggttcctctcctgggggggGctgggatctccaccgctggg	17	12	2	0			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr17:73498980G>A	ENST00000321617.3	-	18	2761	c.2175C>T	c.(2173-2175)agC>agT	p.S725S	CASKIN2_ENST00000433559.2_Silent_p.S643S	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	725	Pro-rich.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTGGGGGGGGCTGGGATCTC	0.647																																						ENST00000321617.3																			0				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(2173-2175)agC>agT		CASK interacting protein 2							19	21	20					17																	73498980		2164	4241	6405	SO:0001819	synonymous_variant	57513					cytoplasm		g.chr17:73498980G>A	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.2175C>T	17.37:g.73498980G>A						CASKIN2_ENST00000433559.2_Silent_p.S643S	p.S725S	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		18	2761	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		725			Pro-rich.		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Silent	SNP	ENST00000321617.3	37	c.2175C>T	CCDS11723.1																																																																																				0.647	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		3	57	0	0	0	1	0	3	57					A	73498980	G	A	73498980	2	1	420	1	0	0	0	0	0	0	0	1	2667	1194	42	2		2	CASKIN2	17	73498980	Silent	SNP	G	TCGA-FK-A3SE-01A-11D-A22D-08		73498980	7696230	15	8611											
SLC1A6	6511	broad.mit.edu	37	chr19	15073100	15073100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggcacccggctcagaccCgttctctgtcctcaccatgg	11	16	3	1			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr19:15073100C>T	ENST00000221742.3	-	5	656	c.649G>A	c.(649-651)Ggg>Agg	p.G217R	SLC1A6_ENST00000430939.2_Missense_Mutation_p.G153R|SLC1A6_ENST00000600144.1_Missense_Mutation_p.G217R|SLC1A6_ENST00000598504.1_Missense_Mutation_p.G217R|SLC1A6_ENST00000544886.2_Missense_Mutation_p.G217R	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	217					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						GGCTCAGACCCGTTCTCTGTC	0.552																																						ENST00000598504.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(649-651)Ggg>Agg		solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	L-Glutamic Acid(DB00142)						125	116	119					19																	15073100		2203	4300	6503	SO:0001583	missense	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15073100C>T		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"Solute carriers"	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.649G>A	19.37:g.15073100C>T	ENSP00000221742:p.Gly217Arg					SLC1A6_ENST00000430939.2_Missense_Mutation_p.G153R|SLC1A6_ENST00000221742.3_Missense_Mutation_p.G217R|SLC1A6_ENST00000600144.1_Missense_Mutation_p.G217R|SLC1A6_ENST00000544886.2_Missense_Mutation_p.G217R	p.G217R	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN			8	2008	-			217					Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	c.649G>A	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	c	7.204	0.594043	0.13875	.	.	ENSG00000105143	ENST00000430939;ENST00000221742;ENST00000544886	T;T;T	0.70869	-0.52;0.56;1.3	4.42	3.33	0.38152	.	0.365309	0.27797	N	0.017813	T	0.52533	0.1740	L	0.38175	1.15	0.20074	N	0.999932	B;B;B	0.15930	0.011;0.007;0.015	B;B;B	0.13407	0.008;0.004;0.009	T	0.17048	-1.0382	10	0.16420	T	0.52	-19.7986	5.2147	0.15336	0.0:0.7687:0.0:0.2313	.	153;217;217	E7EV13;Q8N753;P48664	.;.;EAA4_HUMAN	R	153;217;217	ENSP00000409386:G153R;ENSP00000221742:G217R;ENSP00000446175:G217R	ENSP00000221742:G217R	G	-	1	0	SLC1A6	14934100	0.126000	0.22350	0.765000	0.31456	0.648000	0.38561	0.921000	0.28718	2.310000	0.77875	0.454000	0.30748	GGG		0.552	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		55	103	0	0	0	1	0	55	103					T	15073100	C	T	15073100	3	4	420	1	0	0	0	0	1	0	0	0	14436	652	23	1	1065	1	SLC1A6	19	15073100	Missense_Mutation	SNP	C	TCGA-FK-A3SE-01A-11D-A22D-08		15073100	44055883	16	8612											
CKM	1158	broad.mit.edu	37	chr19	45810133	45810133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacttcggacgagcccagccGatcagcgttggacacgtcaa	11	13	2	0			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr19:45810133G>A	ENST00000221476.3	-	8	1195	c.1021C>T	c.(1021-1023)Cgg>Tgg	p.R341W		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	341	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|phosphocreatine biosynthetic process (GO:0046314)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GAGCCCAGCCGATCAGCGTTG	0.577																																						ENST00000221476.3																			0				cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17						c.(1021-1023)Cgg>Tgg		creatine kinase, muscle	Creatine(DB00148)						169	140	150					19																	45810133		2203	4300	6503	SO:0001583	missense	1158				creatine metabolic process	cytosol	ATP binding|creatine kinase activity	g.chr19:45810133G>A	M14780	CCDS12659.1	19q13.32	2012-10-02			ENSG00000104879	ENSG00000104879	2.7.3.2		1994	protein-coding gene	gene with protein product		123310		CKMM			Standard	NM_001824		Approved		uc002pbd.4	P06732		ENST00000221476.3:c.1021C>T	19.37:g.45810133G>A	ENSP00000221476:p.Arg341Trp						p.R341W	NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	8	1195	-		Ovarian(192;0.0336)|all_neural(266;0.112)	341			Phosphagen kinase C-terminal.		Q96QL9	Missense_Mutation	SNP	ENST00000221476.3	37	c.1021C>T	CCDS12659.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335283	0.81801	.	.	ENSG00000104879	ENST00000221476	T	0.16073	2.37	5.49	4.45	0.53987	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.054887	0.64402	D	0.000001	T	0.59445	0.2194	H	0.99130	4.44	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.74668	-0.3588	10	0.87932	D	0	-39.4344	11.5244	0.50571	0.0:0.0:0.6757:0.3242	.	341	P06732	KCRM_HUMAN	W	341	ENSP00000221476:R341W	ENSP00000221476:R341W	R	-	1	2	CKM	50501973	1.000000	0.71417	0.958000	0.39756	0.818000	0.46254	4.449000	0.60034	1.321000	0.45227	0.561000	0.74099	CGG		0.577	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457569.1			4	293	0	0	0	1	0	4	293					A	45810133	G	A	45810133	3	1	420	1	0	0	0	0	1	0	0	0	3448	1057	37	1	128	1	CKM	19	45810133	Missense_Mutation	SNP	G	TCGA-FK-A3SE-01A-11D-A22D-08	30737033	45810133	13318850	17	8613											
C20orf144	128864	broad.mit.edu	37	chr20	32251496	32251497	+	In_Frame_Ins	INS	-	-	CTG													gcgagccgaggatgccggtaINSctgctgctgctgcggcggca							TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr20:32251496_32251497insCTG	ENST00000375222.3	+	2	347_348	c.285_286insCTG	c.(286-288)ctg>CTGctg	p.96_96L>LL	NECAB3_ENST00000375238.4_Intron|NECAB3_ENST00000606525.1_5'Flank|ACTL10_ENST00000330271.4_5'Flank|NECAB3_ENST00000246190.6_Intron	NM_080825.3	NP_543015.1	Q9BQM9	CT144_HUMAN	chromosome 20 open reading frame 144	96										lung(1)	1						GGATGCCGGTACTGCTGCTGCT	0.748																																						ENST00000375222.3																			0				lung(1)	1						c.(283-288)gttgct>gtCTGtgct		chromosome 20 open reading frame 144			,,	9,2599		4,1,1299					,,	-5.1	0.0		dbSNP_134	4	8,5796		2,4,2896	no	coding,intron,intron	NECAB3,C20orf144	NM_080825.3,NM_031232.3,NM_031231.3	,,	6,5,4195	A1A1,A1R,RR		0.1378,0.3451,0.2021	,,	,,		17,8395				SO:0001652	inframe_insertion	128864							g.chr20:32251496_32251497insCTG	AL121906	CCDS13223.1	20q11.22	2012-07-17			ENSG00000149609	ENSG00000149609			16137	protein-coding gene	gene with protein product	"bcl-2-like protein from testis"					11780052	Standard	NM_080825		Approved	dJ63M2.6, bclt	uc002wzs.2	Q9BQM9	OTTHUMG00000032263	ENST00000375222.3:c.295_297dupCTG	20.37:g.32251503_32251505dupCTG	ENSP00000364370:p.Leu99dup					NECAB3_ENST00000246190.6_Intron|NECAB3_ENST00000375238.4_Intron	p.95_96VA>VCA	NM_080825.3	NP_543015.1	Q9BQM9	CT144_HUMAN			2	347_348	+			95					Q1AHR2	In_Frame_Ins	INS	ENST00000375222.3	37	c.285_286insCTG	CCDS13223.1																																																																																				0.748	C20orf144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078714.2	NM_080825		6	6						6	6	---	---	---	---	CTG	32251497	-	CTG	32251496	7	5	420	1	0	1	1	0	0	0	0	0	2090	378	14	0	291	0	C20orf144	20	32251496	In_Frame_Ins	INS	-	TCGA-FK-A3SE-01A-11D-A22D-08		32251496	30774024	18	8614											
FITM2	128486	broad.mit.edu	37	chr20	42935521	42935521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcagtggcttcggtccGtcttcacctcatgcagcaca	12	13	3	0	rs138125328		TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr20:42935521G>A	ENST00000396825.3	-	2	553	c.533C>T	c.(532-534)aCg>aTg	p.T178M		NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	178					cellular triglyceride homeostasis (GO:0035356)|cytoskeleton organization (GO:0007010)|lipid particle organization (GO:0034389)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of cell morphogenesis (GO:0022604)|regulation of triglyceride biosynthetic process (GO:0010866)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)				endometrium(2)|lung(2)|skin(2)	6						GCTTCGGTCCGTCTTCACCTC	0.542																																						ENST00000396825.3																			0				endometrium(2)|lung(2)|skin(2)	6						c.(532-534)aCg>aTg		fat storage-inducing transmembrane protein 2		G	MET/THR	3,4403	6.2+/-15.9	0,3,2200	100	78	86		533	2.1	1.0	20	dbSNP_134	86	0,8600		0,0,4300	no	missense	FITM2	NM_001080472.1	81	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	178/263	42935521	3,13003	2203	4300	6503	SO:0001583	missense	128486				cellular triglyceride homeostasis|lipid particle organization|positive regulation of sequestering of triglyceride|regulation of triglyceride biosynthetic process	integral to endoplasmic reticulum membrane		g.chr20:42935521G>A	BC029662	CCDS33473.1	20q13.12	2009-04-29	2009-04-29	2009-04-29	ENSG00000197296	ENSG00000197296			16135	protein-coding gene	gene with protein product	"fat inducing transcript 2"	612029	"chromosome 20 open reading frame 142"	C20orf142		18160536	Standard	NM_001080472		Approved	dJ881L22.2, FIT2	uc002xlr.1	Q8N6M3	OTTHUMG00000032522	ENST00000396825.3:c.533C>T	20.37:g.42935521G>A	ENSP00000380037:p.Thr178Met						p.T178M	NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN			2	553	-			178					A1L492|B9EGQ4|Q5TE59|Q9H3Y1	Missense_Mutation	SNP	ENST00000396825.3	37	c.533C>T	CCDS33473.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.324080	0.24080	6.81E-4	0.0	ENSG00000197296	ENST00000396825	.	.	.	5.57	2.07	0.26955	.	0.448802	0.25872	N	0.027753	T	0.27765	0.0683	N	0.17474	0.49	0.31861	N	0.620962	B	0.16166	0.016	B	0.11329	0.006	T	0.19451	-1.0305	9	0.34782	T	0.22	.	8.2401	0.31654	0.1967:0.0:0.6726:0.1308	.	178	Q8N6M3	FITM2_HUMAN	M	178	.	ENSP00000380037:T178M	T	-	2	0	FITM2	42368935	0.880000	0.30214	0.993000	0.49108	0.797000	0.45037	2.159000	0.42339	0.696000	0.31696	0.563000	0.77884	ACG		0.542	FITM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079342.2	XM_371399		3	78	0	0	0	1	0	3	78					A	42935521	G	A	42935521	3	1	420	1	0	0	0	0	1	0	0	0	5899	1145	40	1	259	1	FITM2	20	42935521	Missense_Mutation	SNP	G	TCGA-FK-A3SE-01A-11D-A22D-08	10684025	42935521	20089999	19	8615											
CAPN6	827	broad.mit.edu	37	chrX	110494282	110494282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatagggttgttcacattgcGgcagacattcagtttgtgaa	11	6	2	2			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chrX:110494282G>A	ENST00000324068.1	-	8	1188	c.1021C>T	c.(1021-1023)Cgc>Tgc	p.R341C	CAPN6_ENST00000541758.1_Missense_Mutation_p.R86C	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	341	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TTCACATTGCGGCAGACATTC	0.463																																						ENST00000324068.1																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						c.(1021-1023)Cgc>Tgc		calpain 6							320	287	298					X																	110494282		2203	4300	6503	SO:0001583	missense	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110494282G>A	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1021C>T	X.37:g.110494282G>A	ENSP00000317214:p.Arg341Cys					CAPN6_ENST00000541758.1_Missense_Mutation_p.R86C	p.R341C	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN			8	1188	-			341			Calpain catalytic.		D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	ENST00000324068.1	37	c.1021C>T	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037613	0.75617	.	.	ENSG00000077274	ENST00000324068;ENST00000541758	T;T	0.44482	0.92;2.3	5.95	5.95	0.96441	Peptidase C2, calpain, catalytic domain (3);	0.250879	0.37809	N	0.001921	T	0.65606	0.2707	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.66027	-0.6025	10	0.45353	T	0.12	.	15.6852	0.77405	0.0:0.0:0.863:0.137	.	341	Q9Y6Q1	CAN6_HUMAN	C	341;86	ENSP00000317214:R341C;ENSP00000441736:R86C	ENSP00000317214:R341C	R	-	1	0	CAPN6	110380938	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.271000	0.72569	2.504000	0.84457	0.600000	0.82982	CGC		0.463	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			9	738	0	0	0	1	0	9	738					A	110494282	G	A	110494282	3	1	420	1	0	0	0	0	1	0	0	0	2630	1116	39	1	928	1	CAPN6	23	110494282	Missense_Mutation	SNP	G	TCGA-FK-A3SE-01A-11D-A22D-08		110494282	44776278	20	8616											
MAGEC1	9947	broad.mit.edu	37	chrX	140994114	140994116	+	In_Frame_Del	DEL	CTC	CTC	-													cctctccagattcctgtgagCtcctcctcctcctccacttt					rs141900922|rs138660605|rs386828016		TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chrX:140994114_140994116delCTC	ENST00000285879.4	+	4	1210_1212	c.924_926delCTC	c.(922-927)agctcc>agc	p.308_309SS>S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	308				SSS -> PSF (in Ref. 2; AAC24227). {ECO:0000305}.						breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGTGAGCTCCTCCTCCTCC	0.483										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(922-927)agc>ag		melanoma antigen family C, 1				8,3698		0,2,6,1588,520							0.1			130	41,6388		0,12,29,2341,1694	no	coding	MAGEC1	NM_005462.4		0,14,35,3929,2214	A1A1,A1R,A1,RR,R		0.6377,0.2159,0.4835				49,10086				SO:0001651	inframe_deletion	9947						protein binding	g.chrX:140994114_140994116delCTC	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.924_926delCTC	X.37:g.140994123_140994125delCTC	ENSP00000285879:p.Ser313del	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.SS312del	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1210_1212	+	Acute lymphoblastic leukemia(192;6.56e-05)		312					A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	c.924_926delCTC	CCDS35417.1																																																																																				0.483	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		7	502						7	502	---	---	---	---	-	140994116	CTC	-	140994114	7	5	420	1	0	1	0	1	0	0	0	0	9180	796	28	0	930	0	MAGEC1	23	140994114	In_Frame_Del	DEL	CTC	TCGA-FK-A3SE-01A-11D-A22D-08	30499832	140994114	14276446	21	8617											
KIF1B	23095	broad.mit.edu	37	chr1	10394681	10394681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggatttctgcgtgtggctGtacaggccatcgcaggtagg	17	8	1	0			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr1:10394681G>A	ENST00000377086.1	+	28	3230	c.3028G>A	c.(3028-3030)Gta>Ata	p.V1010I	KIF1B_ENST00000263934.6_Missense_Mutation_p.V964I|KIF1B_ENST00000377081.1_Missense_Mutation_p.V1010I			O60333	KIF1B_HUMAN	kinesin family member 1B	1010					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)		GCGTGTGGCTGTACAGGCCAT	0.517																																						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.(3028-3030)Gta>Ata		kinesin family member 1B							158	141	147					1																	10394681		2203	4300	6503	SO:0001583	missense	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.chr1:10394681G>A	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.3028G>A	1.37:g.10394681G>A	ENSP00000366290:p.Val1010Ile					KIF1B_ENST00000263934.6_Missense_Mutation_p.V964I|KIF1B_ENST00000377081.1_Missense_Mutation_p.V1010I	p.V1010I			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)	28	3230	+	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)	1010					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.3028G>A		.	.	.	.	.	.	.	.	.	.	G	23.2	4.390282	0.82902	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.77877	-1.13;-1.13;-1.13	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.81375	0.4809	N	0.24115	0.695	0.80722	D	1	P;P;D;D;P;P	0.67145	0.897;0.849;0.996;0.992;0.56;0.902	P;B;D;D;B;D	0.77557	0.471;0.215;0.99;0.989;0.158;0.927	T	0.77107	-0.2710	10	0.23302	T	0.38	.	20.2699	0.98469	0.0:0.0:1.0:0.0	.	996;970;1010;984;1010;964	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	I	1010;964;1010;1010	ENSP00000263934:V964I;ENSP00000366290:V1010I;ENSP00000366284:V1010I	ENSP00000263934:V964I	V	+	1	0	KIF1B	10317268	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.923000	0.87546	2.854000	0.98071	0.655000	0.94253	GTA		0.517	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			4	91	0	0	0	1	0	4	91					A	10394681	G	A	10394681	3	1	421	1	0	0	0	0	1	0	0	0	8284	1377	48	2	4477	2	KIF1B	1	10394681	Missense_Mutation	SNP	G	TCGA-FK-A3SG-01A-11D-A22D-08		10394681	238855940	1	8618											
FAM43B	163933	broad.mit.edu	37	chr1	20880268	20880270	+	In_Frame_Del	DEL	GAG	GAG	-													gcagcatccaggaggaggacGaggaggaggaggaggacgac							TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr1:20880268_20880270delGAG	ENST00000332947.4	+	1	1337_1339	c.802_804delGAG	c.(802-804)gagdel	p.E272del		NM_207334.2	NP_997217.1	Q6ZT52	FA43B_HUMAN	family with sequence similarity 43, member B	272										large_intestine(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		ggaggaggacgaggaggaggagg	0.744																																						ENST00000332947.4																			0				large_intestine(1)|lung(2)	3						c.(802-804)del		family with sequence similarity 43, member B				121,39,3262		29,0,63,5,29,1585						-0.4	1.0			5	4,54,6868		0,0,4,2,50,3407	no	codingComplex	FAM43B	NM_207334.2		29,0,67,7,79,4992	A1A1,A1A2,A1R,A2A2,A2R,RR		0.8374,4.6756,2.1067				125,93,10130				SO:0001651	inframe_deletion	163933							g.chr1:20880268_20880270delGAG	AK126900	CCDS209.1	1p36.12	2014-08-14			ENSG00000183114	ENSG00000183114			31791	protein-coding gene	gene with protein product						21461611	Standard	NM_207334		Approved	FLJ44952	uc001bdj.3	Q6ZT52	OTTHUMG00000057491	ENST00000332947.4:c.802_804delGAG	1.37:g.20880277_20880279delGAG	ENSP00000331397:p.Glu272del						p.E272del	NM_207334.2	NP_997217.1	Q6ZT52	FA43B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)	1	1337_1339	+		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	272					A5PKT8|A5PL01	In_Frame_Del	DEL	ENST00000332947.4	37	c.802_804delGAG	CCDS209.1																																																																																				0.744	FAM43B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127759.1	NM_207334		3	6						3	6	---	---	---	---	-	20880270	GAG	-	20880268	7	5	421	1	0	1	0	1	0	0	0	0	5563	1059	37	0	804	0	FAM43B	1	20880268	In_Frame_Del	DEL	GAG	TCGA-FK-A3SG-01A-11D-A22D-08	10485587	20880268	228370353	2	8619											
NEXN	91624	broad.mit.edu	37	chr1	78383724	78383724	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatgttccaaaattaacagGtaagaagcttgaggggtaaa	10	4	0	2			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr1:78383724G>A	ENST00000334785.7	+	4	482		c.e4+1		NEXN_ENST00000457030.1_Splice_Site|NEXN_ENST00000330010.8_Splice_Site|NEXN_ENST00000294624.8_Splice_Site	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AAATTAACAGGTAAGAAGCTT	0.284																																						ENST00000330010.8																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.e3+1		nexilin (F actin binding protein)							102	103	103					1																	78383724		1803	4066	5869	SO:0001630	splice_region_variant	91624				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle	g.chr1:78383724G>A	AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"Immunoglobulin superfamily / I-set domain containing"	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.298+1G>A	1.37:g.78383724G>A						NEXN_ENST00000334785.7_Splice_Site|NEXN_ENST00000294624.8_Splice_Site|NEXN_ENST00000457030.1_Splice_Site		NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN		Colorectal(170;0.114)	3	403	+									Splice_Site	SNP	ENST00000334785.7	37		CCDS41351.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709712	0.68730	.	.	ENSG00000162614	ENST00000401035;ENST00000457030;ENST00000330010;ENST00000294624;ENST00000334785;ENST00000440324	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3046	0.98621	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NEXN	78156312	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	9.006000	0.93592	2.878000	0.98634	0.650000	0.86243	.		0.284	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573	Intron	3	64	0	0	0	1	0	3	64					A	78383724	G	A	78383724	5	1	421	1	0	0	0	0	0	0	1	0	10355	1275	44	2	309	2	NEXN	1	78383724	Splice_Site	SNP	G	TCGA-FK-A3SG-01A-11D-A22D-08	57503456	78383724	170866897	3	8620											
HPCAL1	3241	broad.mit.edu	37	chr2	10560174	10560174	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgacctcgcggggcaagctGgagcagaagctcaagtgggc	17	10	1	2			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr2:10560174G>A	ENST00000381765.3	+	4	817	c.291G>A	c.(289-291)ctG>ctA	p.L97L	HPCAL1_ENST00000307845.3_Silent_p.L97L	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN	hippocalcin-like 1	97	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		GGGGCAAGCTGGAGCAGAAGC	0.637																																					Pancreas(70;1384 1800 31595 46836)	ENST00000381765.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9						c.(289-291)ctG>ctA		hippocalcin-like 1							83	73	77					2																	10560174		2203	4300	6503	SO:0001819	synonymous_variant	3241						calcium ion binding	g.chr2:10560174G>A		CCDS1671.1	2p25.1	2013-01-10			ENSG00000115756	ENSG00000115756		"EF-hand domain containing"	5145	protein-coding gene	gene with protein product	"visinin-like protein 3", "calcium-binding protein BDR-1"	600207				8038222, 14739275	Standard	NM_002149		Approved	BDR1, HLP2, VILIP-3	uc031rnq.1	P37235	OTTHUMG00000090451	ENST00000381765.3:c.291G>A	2.37:g.10560174G>A						HPCAL1_ENST00000307845.3_Silent_p.L97L	p.L97L	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN		Epithelial(75;0.214)	4	817	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		97			EF-hand 3.		Q969S5	Silent	SNP	ENST00000381765.3	37	c.291G>A	CCDS1671.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.402629	0.25291	.	.	ENSG00000115756	ENST00000422133	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	T	0.71247	0.3317	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70605	-0.4826	4	.	.	.	.	15.352	0.74396	0.0:0.1396:0.8604:0.0	.	.	.	.	R	10	.	.	G	+	1	0	HPCAL1	10477625	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.153000	0.42282	2.282000	0.76494	0.561000	0.74099	GGA		0.637	HPCAL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206898.1	NM_002149		3	78	0	0	0	1	0	3	78					A	10560174	G	A	10560174	2	1	421	1	0	0	0	0	0	0	0	1	7330	1335	47	2		2	HPCAL1	2	10560174	Silent	SNP	G	TCGA-FK-A3SG-01A-11D-A22D-08		10560174	232639199	4	8621											
SRP72	6731	broad.mit.edu	37	chr4	57340448	57340448	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tattttgtcccctgacaggaGaacctgggcctccaagaagg	11	11	0	3			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr4:57340448G>C	ENST00000342756.5	+	5	1222	c.501G>C	c.(499-501)gaG>gaC	p.E167D	SRP72_ENST00000510663.1_Missense_Mutation_p.E167D|SRP72_ENST00000504757.1_Missense_Mutation_p.E167D	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	167					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					CCTGACAGGAGAACCTGGGCC	0.448																																						ENST00000342756.5																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22						c.(499-501)gaG>gaC		signal recognition particle 72kDa							105	108	107					4																	57340448		2203	4300	6503	SO:0001583	missense	6731				response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding	g.chr4:57340448G>C	AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"Tetratricopeptide (TTC) repeat domain containing"	11303	protein-coding gene	gene with protein product		602122	"signal recognition particle 72kD"			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.501G>C	4.37:g.57340448G>C	ENSP00000342181:p.Glu167Asp					SRP72_ENST00000504757.1_Missense_Mutation_p.E167D|SRP72_ENST00000510663.1_Missense_Mutation_p.E167D	p.E167D	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN			5	1222	+	Glioma(25;0.08)|all_neural(26;0.101)		167					G5E9Z8|Q7Z3C0	Missense_Mutation	SNP	ENST00000342756.5	37	c.501G>C	CCDS3506.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168690	0.57584	.	.	ENSG00000174780	ENST00000342756;ENST00000537129;ENST00000510663	T;T	0.39592	1.07;1.07	5.52	2.35	0.29111	Tetratricopeptide-like helical (1);	0.091290	0.64402	N	0.000001	T	0.30293	0.0760	L	0.54863	1.705	0.47009	D	0.999289	B;B	0.32693	0.164;0.38	B;B	0.29176	0.099;0.091	T	0.04752	-1.0929	10	0.25751	T	0.34	.	5.2527	0.15531	0.2278:0.1751:0.5971:0.0	.	167;167	G5E9Z8;O76094	.;SRP72_HUMAN	D	167;173;167	ENSP00000342181:E167D;ENSP00000424576:E167D	ENSP00000342181:E167D	E	+	3	2	SRP72	57035205	0.996000	0.38824	1.000000	0.80357	0.749000	0.42624	0.417000	0.21214	0.666000	0.31087	0.650000	0.86243	GAG		0.448	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7			6	187	0	0	0	1	0	6	187					C	57340448	G	C	57340448	3	2	421	1	0	0	0	0	1	0	0	0	15156	933	33	4	519	4	SRP72	4	57340448	Missense_Mutation	SNP	G	TCGA-FK-A3SG-01A-11D-A22D-08		57340448	133813828	5	8622											
BDP1	55814	broad.mit.edu	37	chr5	70858315	70858315	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctccaagtgttattactactCaatctgagaatattagcagc	6	9	2	1			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr5:70858315C>T	ENST00000358731.4	+	38	7974	c.7711C>T	c.(7711-7713)Caa>Taa	p.Q2571*	BDP1_ENST00000380675.2_3'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2571					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TATTACTACTCAATCTGAGAA	0.348																																						ENST00000358731.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(7711-7713)Caa>Taa		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB							94	86	89					5																	70858315		1840	4095	5935	SO:0001587	stop_gained	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70858315C>T	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.7711C>T	5.37:g.70858315C>T	ENSP00000351575:p.Gln2571*					BDP1_ENST00000380675.2_3'UTR	p.Q2571*	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	38	7974	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	2571					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Nonsense_Mutation	SNP	ENST00000358731.4	37	c.7711C>T	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535433	0.64972	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	.	.	.	5.87	2.95	0.34219	.	0.842486	0.10330	N	0.687725	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	13.7035	0.62624	0.0:0.448:0.552:0.0	.	.	.	.	X	2571;2119	.	ENSP00000351575:Q2571X	Q	+	1	0	BDP1	70894071	0.000000	0.05858	0.007000	0.13788	0.122000	0.20287	0.324000	0.19610	0.753000	0.32945	0.650000	0.86243	CAA		0.348	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		17	82	0	0	0	1	0	17	82					T	70858315	C	T	70858315	4	4	421	1	0	0	0	0	0	1	0	0	1395	827	29	2	7861	2	BDP1	5	70858315	Nonsense_Mutation	SNP	C	TCGA-FK-A3SG-01A-11D-A22D-08		70858315	110056945	6	8623											
SMPD2	6610	broad.mit.edu	37	chr6	109763769	109763769	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	catgccgaatacaatcgacaGaaggacatctacctagcaca	7	12	1	1			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr6:109763769G>C	ENST00000258052.3	+	6	791	c.432G>C	c.(430-432)caG>caC	p.Q144H	PPIL6_ENST00000440797.2_5'Flank|PPIL6_ENST00000424445.2_5'Flank|PPIL6_ENST00000521072.2_5'Flank	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	144					apoptotic signaling pathway (GO:0097190)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|neurotrophin TRK receptor signaling pathway (GO:0048011)|response to mechanical stimulus (GO:0009612)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin metabolic process (GO:0006684)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		ACAATCGACAGAAGGACATCT	0.522																																						ENST00000258052.3																			0				endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8						c.(430-432)caG>caC		sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)							169	146	154					6																	109763769		2203	4300	6503	SO:0001583	missense	6610				induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	g.chr6:109763769G>C	AJ222801	CCDS5075.1	6q21	2009-10-23			ENSG00000135587	ENSG00000135587	3.1.4.12		11121	protein-coding gene	gene with protein product		603498				9520418	Standard	XM_005267109		Approved	nSMase, ISC1	uc003pti.3	O60906	OTTHUMG00000015348	ENST00000258052.3:c.432G>C	6.37:g.109763769G>C	ENSP00000258052:p.Gln144His						p.Q144H	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)	6	791	+		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)	144					Q5TED1|Q9BWR3	Missense_Mutation	SNP	ENST00000258052.3	37	c.432G>C	CCDS5075.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.288948	0.23478	.	.	ENSG00000135587	ENST00000258052	T	0.80480	-1.38	5.43	0.924	0.19418	Endonuclease/exonuclease/phosphatase (2);	0.326365	0.35739	N	0.003012	T	0.41743	0.1172	N	0.20986	0.625	0.19575	N	0.999966	B	0.02656	0.0	B	0.06405	0.002	T	0.33929	-0.9849	10	0.44086	T	0.13	-4.2124	2.8213	0.05472	0.3595:0.0:0.4413:0.1992	.	144	O60906	NSMA_HUMAN	H	144	ENSP00000258052:Q144H	ENSP00000258052:Q144H	Q	+	3	2	SMPD2	109870462	0.998000	0.40836	0.991000	0.47740	0.211000	0.24417	0.264000	0.18497	0.243000	0.21327	-1.069000	0.02264	CAG		0.522	SMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041755.1			4	176	0	0	0	1	0	4	176					C	109763769	G	C	109763769	3	2	421	1	0	0	0	0	1	0	0	0	14805	933	33	4	454	4	SMPD2	6	109763769	Missense_Mutation	SNP	G	TCGA-FK-A3SG-01A-11D-A22D-08		109763769	61351298	7	8624											
PRSS55	203074	broad.mit.edu	37	chr8	10390524	10390524	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccaaaaatatgctgtgtgCcggatacaagaatgagagct	10	7	0	2			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr8:10390524C>T	ENST00000328655.3	+	4	747	c.707C>T	c.(706-708)gCc>gTc	p.A236V	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.A236V	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	236	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						ATGCTGTGTGCCGGATACAAG	0.483																																						ENST00000328655.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						c.(706-708)gCc>gTc		protease, serine, 55							121	104	110					8																	10390524		2203	4300	6503	SO:0001583	missense	203074				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr8:10390524C>T	AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"Serine peptidases / Serine peptidases"	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.707C>T	8.37:g.10390524C>T	ENSP00000333003:p.Ala236Val					PRSS55_ENST00000522210.1_Missense_Mutation_p.A236V|PRSS51_ENST00000523024.1_RNA	p.A236V	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN			4	747	+			236			Peptidase S1.		E5RJX5	Missense_Mutation	SNP	ENST00000328655.3	37	c.707C>T	CCDS5976.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733040	0.48939	.	.	ENSG00000184647	ENST00000328655;ENST00000522210	D;D	0.94966	-3.57;-3.57	5.42	5.42	0.78866	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.34725	N	0.003736	D	0.95007	0.8384	L	0.53617	1.68	0.43863	D	0.996461	D	0.52996	0.957	P	0.54431	0.752	D	0.94760	0.7935	10	0.54805	T	0.06	.	15.0703	0.72030	0.0:1.0:0.0:0.0	.	236	Q6UWB4	PRS55_HUMAN	V	236	ENSP00000333003:A236V;ENSP00000430459:A236V	ENSP00000333003:A236V	A	+	2	0	PRSS55	10427934	0.973000	0.33851	0.966000	0.40874	0.052000	0.14988	2.472000	0.45136	2.694000	0.91930	0.591000	0.81541	GCC		0.483	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464		3	76	0	0	0	1	0	3	76					T	10390524	C	T	10390524	3	4	421	1	0	0	0	0	1	0	0	0	12634	739	26	2	721	2	PRSS55	8	10390524	Missense_Mutation	SNP	C	TCGA-FK-A3SG-01A-11D-A22D-08		10390524	135973498	8	8625											
MARCH8	220972	broad.mit.edu	37	chr10	45954618	45954618	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtacggtcaatgagcacaTacaaggaccagaccacacat	8	12	1	2			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr10:45954618T>C	ENST00000319836.3	-	6	1270	c.521A>G	c.(520-522)tAt>tGt	p.Y174C	MARCH8_ENST00000476962.1_5'UTR|MARCH8_ENST00000395771.3_Missense_Mutation_p.Y174C|MARCH8_ENST00000395769.2_Missense_Mutation_p.Y174C|MARCH8_ENST00000453424.2_Missense_Mutation_p.Y456C	NM_145021.4	NP_659458.2	Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	174					immune system process (GO:0002376)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						AATGAGCACATACAAGGACCA	0.552																																					NSCLC(102;658 1594 2173 16344 34808)	ENST00000453424.2																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						c.(1366-1368)tAt>tGt		membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase							192	147	162					10																	45954618		2203	4300	6503	SO:0001583	missense	220972					cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr10:45954618T>C	AL833316	CCDS7213.1, CCDS60519.1	10q11.22	2013-01-09	2012-02-23	2005-01-27	ENSG00000165406	ENSG00000165406		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	23356	protein-coding gene	gene with protein product		613335	"c-mir, cellular modulator of immune recognition", "membrane-associated ring finger (C3HC4) 8"	MIR		12582153, 14722266	Standard	XM_005271804		Approved	c-MIR, MARCH-VIII, RNF178	uc001jch.2	Q5T0T0	OTTHUMG00000019345	ENST00000319836.3:c.521A>G	10.37:g.45954618T>C	ENSP00000317087:p.Tyr174Cys					MARCH8_ENST00000395771.3_Missense_Mutation_p.Y174C|MARCH8_ENST00000319836.3_Missense_Mutation_p.Y174C|MARCH8_ENST00000476962.1_5'UTR|MARCH8_ENST00000395769.2_Missense_Mutation_p.Y174C	p.Y456C			Q5T0T0	MARH8_HUMAN			7	1628	-			174					B2R8E7|H0Y7C6|Q5T0S8|Q8TC72	Missense_Mutation	SNP	ENST00000319836.3	37	c.1367A>G	CCDS7213.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.281325	0.80692	.	.	ENSG00000165406	ENST00000395771;ENST00000319836;ENST00000395769	T;T;T	0.14144	2.53;2.53;2.53	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.15176	0.0366	L	0.44542	1.39	0.80722	D	1	P;B	0.39391	0.671;0.249	B;B	0.39531	0.302;0.23	T	0.01748	-1.1282	10	0.45353	T	0.12	-13.8863	13.9558	0.64147	0.0:0.0:0.0:1.0	.	174;338	Q5T0T0;Q5JQ16	MARH8_HUMAN;.	C	174	ENSP00000379118:Y174C;ENSP00000317087:Y174C;ENSP00000379116:Y174C	ENSP00000317087:Y174C	Y	-	2	0	MARCH8	45274624	1.000000	0.71417	0.979000	0.43373	0.965000	0.64279	8.040000	0.89188	2.184000	0.69523	0.533000	0.62120	TAT		0.552	MARCH8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051217.1	NM_145021		11	172	0	0	0	1	0	11	172					C	45954618	T	C	45954618	3	2	421	1	0	0	0	0	1	0	0	0	9307	1406	49	3	362	3	MARCH8	10	45954618	Missense_Mutation	SNP	T	TCGA-FK-A3SG-01A-11D-A22D-08		45954618	89580129	9	8626											
WDR11	55717	broad.mit.edu	37	chr10	122619684	122619684	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttgctatccacccgccaaAttacattgtgctctggaatg	8	12	1	0			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr10:122619684A>G	ENST00000263461.6	+	4	662	c.416A>G	c.(415-417)aAt>aGt	p.N139S		NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	293					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CACCCGCCAAATTACATTGTG	0.428																																						ENST00000263461.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						c.(415-417)aAt>aGt		WD repeat domain 11							139	120	126					10																	122619684		2203	4300	6503	SO:0001583	missense	55717					integral to membrane		g.chr10:122619684A>G	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"WD repeat domain containing"	13831	protein-coding gene	gene with protein product		606417	"bromodomain and WD repeat domain containing 2"	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.416A>G	10.37:g.122619684A>G	ENSP00000263461:p.Asn139Ser						p.N139S	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN			4	662	+			139					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	37	c.416A>G	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	A	11.66	1.703712	0.30232	.	.	ENSG00000120008	ENST00000263461	T	0.28454	1.61	5.48	4.35	0.52113	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.140827	0.64402	D	0.000007	T	0.15869	0.0382	N	0.15975	0.35	0.53005	D	0.999962	B	0.29766	0.256	B	0.25614	0.062	T	0.06826	-1.0805	10	0.13470	T	0.59	-15.7456	10.9634	0.47397	0.9272:0.0:0.0728:0.0	.	139	Q9BZH6	WDR11_HUMAN	S	139	ENSP00000263461:N139S	ENSP00000263461:N139S	N	+	2	0	WDR11	122609674	1.000000	0.71417	0.952000	0.39060	0.721000	0.41392	6.171000	0.71926	0.939000	0.37446	0.482000	0.46254	AAT		0.428	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			4	85	0	0	0	1	0	4	85					G	122619684	A	G	122619684	3	3	421	1	0	0	0	0	1	0	0	0	17270	101	4	3	430	3	WDR11	10	122619684	Missense_Mutation	SNP	A	TCGA-FK-A3SG-01A-11D-A22D-08	76665066	122619684	12915063	10	8627											
CD6	923	broad.mit.edu	37	chr11	60777117	60777117	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaggtacacttccgaggggtCtggaacacagtgtgtgacag	15	8	1	1			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr11:60777117C>T	ENST00000313421.7	+	5	1041	c.855C>T	c.(853-855)gtC>gtT	p.V285V	CD6_ENST00000352009.5_Silent_p.V285V|CD6_ENST00000452451.2_Silent_p.V285V|CD6_ENST00000346437.4_Silent_p.V285V|CD6_ENST00000344028.5_Silent_p.V285V|CD6_ENST00000545105.1_Intron	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	285	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						TCCGAGGGGTCTGGAACACAG	0.652																																					Pancreas(169;904 2017 4767 38890 42505)	ENST00000313421.7																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						c.(853-855)gtC>gtT		CD6 molecule							80	66	70					11																	60777117		2203	4299	6502	SO:0001819	synonymous_variant	923				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	g.chr11:60777117C>T		CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"CD molecules"	1691	protein-coding gene	gene with protein product		186720	"CD6 antigen"			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.855C>T	11.37:g.60777117C>T						CD6_ENST00000452451.2_Silent_p.V285V|CD6_ENST00000352009.5_Silent_p.V285V|CD6_ENST00000346437.4_Silent_p.V285V|CD6_ENST00000344028.5_Silent_p.V285V|CD6_ENST00000545105.1_Intron	p.V285V	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN			5	1041	+			285			SRCR 3.		A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Silent	SNP	ENST00000313421.7	37	c.855C>T	CCDS7999.1																																																																																				0.652	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	NM_006725		8	71	0	0	0	1	0	8	71					T	60777117	C	T	60777117	2	4	421	1	0	0	0	0	0	0	0	1	3028	900	32	2		2	CD6	11	60777117	Silent	SNP	C	TCGA-FK-A3SG-01A-11D-A22D-08		60777117	74229399	11	8628											
MARK2	2011	broad.mit.edu	37	chr11	63668346	63668346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgactacaaggacccccggcGgacaggtgaggctgtgccgg	16	12	0	2	rs146234903		TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr11:63668346G>A	ENST00000509502.2	+	10	1347	c.884G>A	c.(883-885)cGg>cAg	p.R295Q	MARK2_ENST00000315032.8_Missense_Mutation_p.R328Q|MARK2_ENST00000513765.2_Missense_Mutation_p.R295Q|MARK2_ENST00000413835.2_Missense_Mutation_p.R328Q|MARK2_ENST00000377809.4_Missense_Mutation_p.R328Q|MARK2_ENST00000425897.2_Missense_Mutation_p.R295Q|MARK2_ENST00000408948.3_Missense_Mutation_p.R295Q|MARK2_ENST00000377810.3_Missense_Mutation_p.R295Q|MARK2_ENST00000361128.5_Missense_Mutation_p.R328Q|MARK2_ENST00000508192.1_Missense_Mutation_p.R328Q|MARK2_ENST00000350490.7_Missense_Mutation_p.R328Q|MARK2_ENST00000502399.3_Missense_Mutation_p.R328Q|MARK2_ENST00000402010.2_Missense_Mutation_p.R328Q	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						GACCCCCGGCGGACAGGTGAG	0.547																																						ENST00000402010.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(982-984)cGg>cAg		MAP/microtubule affinity-regulating kinase 2		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4402		0,0,2201	96	98	97		983,983,983,983,884	5.0	1.0	11	dbSNP_134	97	1,8593		0,1,4296	no	missense,missense,missense,missense,missense	MARK2	NM_001039469.2,NM_001163296.1,NM_001163297.1,NM_004954.4,NM_017490.3	43,43,43,43,43	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	328/789,328/720,328/710,328/725,295/746	63668346	1,12995	2201	4297	6498	SO:0001583	missense	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63668346G>A	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"ELKL motif kinase 1", "serine/threonine kinase", "protein-serine/threonine kinase", "Ser/Thr protein kinase PAR-1B"	600526	"ELKL motif kinase"	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.884G>A	11.37:g.63668346G>A	ENSP00000423974:p.Arg295Gln					MARK2_ENST00000315032.8_Missense_Mutation_p.R328Q|MARK2_ENST00000509502.2_Missense_Mutation_p.R295Q|MARK2_ENST00000350490.7_Missense_Mutation_p.R328Q|MARK2_ENST00000361128.5_Missense_Mutation_p.R328Q|MARK2_ENST00000508192.1_Missense_Mutation_p.R328Q|MARK2_ENST00000377810.3_Missense_Mutation_p.R295Q|MARK2_ENST00000425897.2_Missense_Mutation_p.R295Q|MARK2_ENST00000513765.2_Missense_Mutation_p.R295Q|MARK2_ENST00000377809.4_Missense_Mutation_p.R328Q|MARK2_ENST00000408948.3_Missense_Mutation_p.R295Q|MARK2_ENST00000502399.3_Missense_Mutation_p.R328Q|MARK2_ENST00000413835.2_Missense_Mutation_p.R328Q	p.R328Q	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN			10	1562	+			328			UBA.			Missense_Mutation	SNP	ENST00000509502.2	37	c.983G>A	CCDS41665.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.909184	0.92107	0.0	1.16E-4	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.0	5.0	0.66597	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Protein kinase-like domain (1);	0.114968	0.56097	N	0.000034	T	0.61286	0.2335	M	0.87900	2.915	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.997;1.0;1.0	D;D;D;P;D;D	0.72982	0.921;0.979;0.947;0.668;0.916;0.979	T	0.66956	-0.5792	10	0.54805	T	0.06	.	17.2269	0.86973	0.0:0.0:1.0:0.0	.	295;295;328;328;328;328	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	Q	328;328;328;328;295;328;328;328;328;295;295;295;295	ENSP00000385751:R328Q;ENSP00000326632:R328Q;ENSP00000367040:R328Q;ENSP00000389184:R328Q;ENSP00000367041:R295Q;ENSP00000425765:R328Q;ENSP00000355091:R328Q;ENSP00000294247:R328Q;ENSP00000423974:R295Q;ENSP00000421075:R295Q;ENSP00000386128:R295Q;ENSP00000415494:R295Q	ENSP00000326632:R328Q	R	+	2	0	MARK2	63424922	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.561000	0.73955	2.583000	0.87209	0.557000	0.71058	CGG		0.547	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	NM_017490		4	188	0	0	0	1	0	4	188					A	63668346	G	A	63668346	3	1	421	1	0	0	0	0	1	0	0	0	9313	1116	39	1	1021	1	MARK2	11	63668346	Missense_Mutation	SNP	G	TCGA-FK-A3SG-01A-11D-A22D-08	2891229	63668346	71338170	12	8629											
OAS1	4938	broad.mit.edu	37	chr12	113345000	113345001	+	Frame_Shift_Del	DEL	TG	TG	-													ttccgaggtagctcctacccTgtgtgtgtgtccaaggtggt							TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr12:113345000_113345001delTG	ENST00000202917.5	+	1	419_420	c.156_157delTG	c.(154-159)cctgtgfs	p.V53fs	OAS1_ENST00000452357.2_Frame_Shift_Del_p.V53fs|RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000553185.1_Frame_Shift_Del_p.V53fs|OAS1_ENST00000551241.1_Frame_Shift_Del_p.V53fs|OAS1_ENST00000445409.2_Frame_Shift_Del_p.V53fs	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	53	Interaction with dsRNA.				cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						GCTCCTACCCTGTGTGTGTGTC	0.53																																						ENST00000452357.2																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						c.(154-159)cctgfs		2'-5'-oligoadenylate synthetase 1, 40/46kDa																																				SO:0001589	frameshift_variant	4938				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113345000_113345001delTG	X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"2',5'-oligoadenylate synthetase 1 (40-46 kD)"	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.156_157delTG	12.37:g.113345008_113345009delTG	ENSP00000202917:p.Val53fs					OAS1_ENST00000202917.5_Frame_Shift_Del_p.PV52fs|OAS1_ENST00000553185.1_Frame_Shift_Del_p.PV52fs|OAS1_ENST00000445409.2_Frame_Shift_Del_p.PV52fs|OAS1_ENST00000551241.1_Frame_Shift_Del_p.PV52fs	p.PV52fs	NM_002534.2	NP_002525.2	P00973	OAS1_HUMAN			1	346_347	+			52					A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Frame_Shift_Del	DEL	ENST00000202917.5	37	c.156_157delTG	CCDS41838.1																																																																																				0.53	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405896.2			7	113						7	113	---	---	---	---	-	113345001	TG	-	113345000	7	5	421	1	0	1	0	1	0	0	0	0	10799	1567	55	0	158	0	OAS1	12	113345000	Frame_Shift_Del	DEL	TG	TCGA-FK-A3SG-01A-11D-A22D-08		113345000	20506895	13	8630											
IGDCC4	57722	broad.mit.edu	37	chr15	65676658	65676658	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaggtcttggagatggaGgtcagggttcccgttagatg	15	8	2	2			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr15:65676658G>A	ENST00000352385.2	-	20	3651	c.3442C>T	c.(3442-3444)Ctc>Ttc	p.L1148F	IGDCC4_ENST00000558048.1_5'UTR	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TGGAGATGGAGGTCAGGGTTC	0.607																																						ENST00000352385.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(3442-3444)Ctc>Ttc		immunoglobulin superfamily, DCC subclass, member 4							64	64	64					15																	65676658		2201	4299	6500	SO:0001583	missense	57722					integral to membrane|plasma membrane		g.chr15:65676658G>A		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13770	protein-coding gene	gene with protein product	"likely ortholog of mouse neighbor of Punc E11"						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.3442C>T	15.37:g.65676658G>A	ENSP00000319623:p.Leu1148Phe					IGDCC4_ENST00000558048.1_5'UTR	p.L1148F	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN			20	3651	-			1148					Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	c.3442C>T	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274414	0.40194	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.60040	0.22	5.19	4.27	0.50696	.	0.168166	0.28600	N	0.014779	T	0.42404	0.1201	L	0.32530	0.975	0.32629	N	0.522247	B	0.06786	0.001	B	0.04013	0.001	T	0.47156	-0.9139	10	0.30854	T	0.27	-24.5342	7.7318	0.28791	0.1897:0.0:0.8103:0.0	.	1148	Q8TDY8	IGDC4_HUMAN	F	1148;877	ENSP00000319623:L1148F	ENSP00000319623:L1148F	L	-	1	0	IGDCC4	63463711	0.999000	0.42202	1.000000	0.80357	0.959000	0.62525	1.560000	0.36331	1.187000	0.43000	0.561000	0.74099	CTC		0.607	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		3	69	0	0	0	1	0	3	69					A	65676658	G	A	65676658	3	1	421	1	0	0	0	0	1	0	0	0	7569	1000	35	2	314	2	IGDCC4	15	65676658	Missense_Mutation	SNP	G	TCGA-FK-A3SG-01A-11D-A22D-08		65676658	36854734	14	8631											
DECR2	26063	broad.mit.edu	37	chr16	461481	461481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctctggcttcctacgtgaCgggggccgtgctggtggccg	16	14	1	1	rs367552533		TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr16:461481C>T	ENST00000219481.5	+	8	920	c.782C>T	c.(781-783)aCg>aTg	p.T261M	DECR2_ENST00000461947.1_Intron|DECR2_ENST00000424398.2_Missense_Mutation_p.T249M	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	261					unsaturated fatty acid biosynthetic process (GO:0006636)	peroxisomal membrane (GO:0005778)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				TCCTACGTGACGGGGGCCGTG	0.632																																						ENST00000219481.5																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9						c.(781-783)aCg>aTg		2,4-dienoyl CoA reductase 2, peroxisomal		C	MET/THR	0,4404		0,0,2202	90	83	86		782	4.4	0.4	16		86	1,8599	1.2+/-3.3	0,1,4299	no	missense	DECR2	NM_020664.3	81	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	261/293	461481	1,13003	2202	4300	6502	SO:0001583	missense	26063					peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding	g.chr16:461481C>T	AJ293009	CCDS10409.1	16p13.3	2011-09-14			ENSG00000242612	ENSG00000242612	1.3.1.34	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	2754	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 17C, member 1"	615839				11514237, 19027726	Standard	NM_020664		Approved	PDCR, SDR17C1	uc002chb.3	Q9NUI1	OTTHUMG00000047846	ENST00000219481.5:c.782C>T	16.37:g.461481C>T	ENSP00000219481:p.Thr261Met					DECR2_ENST00000424398.2_Missense_Mutation_p.T249M|DECR2_ENST00000461947.1_Intron	p.T261M	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN			8	920	+		Hepatocellular(16;0.00015)	261					Q6ZRS7|Q96ET0	Missense_Mutation	SNP	ENST00000219481.5	37	c.782C>T	CCDS10409.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012354	0.54468	0.0	1.16E-4	ENSG00000242612	ENST00000219481;ENST00000424398	T;T	0.45668	0.89;0.89	5.33	4.38	0.52667	NAD(P)-binding domain (1);	0.091610	0.85682	D	0.000000	T	0.76133	0.3945	H	0.98256	4.185	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.84595	0.0669	10	0.87932	D	0	.	13.0638	0.59022	0.0:0.9221:0.0:0.0779	.	261	Q9NUI1	DECR2_HUMAN	M	261;249	ENSP00000219481:T261M;ENSP00000400374:T249M	ENSP00000219481:T261M	T	+	2	0	DECR2	401482	1.000000	0.71417	0.377000	0.26055	0.097000	0.18754	7.650000	0.83521	1.262000	0.44165	0.555000	0.69702	ACG		0.632	DECR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109069.4	NM_020664		24	62	0	0	0	1	0	24	62					T	461481	C	T	461481	3	4	421	1	0	0	0	0	1	0	0	0	4383	536	19	1	812	1	DECR2	16	461481	Missense_Mutation	SNP	C	TCGA-FK-A3SG-01A-11D-A22D-08		461481	89893272	15	8632											
COL1A1	1277	broad.mit.edu	37	chr17	48276617	48276617	+	Frame_Shift_Del	DEL	G	G	-													ccagggggtccgggaggtccGgggggtccggggggtccggg							TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr17:48276617delG	ENST00000225964.5	-	5	559	c.441delC	c.(439-441)cccfs	p.P147fs		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	147					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	cgggaggtccggggggtccgg	0.652			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta																															ENST00000225964.5				Dom	yes		17	17q21.31-q22	1277	T	"collagen, type I, alpha 1"	yes	Osteogenesis imperfecta	M	"PDGFB, USP6"		"dermatofibrosarcoma protuberans, aneurysmal bone cyst "	COL1A1/PDGFB(429)	0				NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(439-441)ccfs		collagen, type I, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						1	1	1					17																	48276617		1234	2663	3897	SO:0001589	frameshift_variant	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48276617delG	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"Collagens"	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.441delC	17.37:g.48276617delG	ENSP00000225964:p.Pro147fs						p.P147fs	NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN			5	559	-			147					O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Frame_Shift_Del	DEL	ENST00000225964.5	37	c.441delC	CCDS11561.1																																																																																				0.652	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			2	4						2	4	---	---	---	---	-	48276617	G	-	48276617	7	5	421	1	0	1	0	1	0	0	0	0	3677	1103	39	0	4141	0	COL1A1	17	48276617	Frame_Shift_Del	DEL	G	TCGA-FK-A3SG-01A-11D-A22D-08		48276617	32918593	16	8633											
DSG3	1830	broad.mit.edu	37	chr18	29054111	29054111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacaaatacgtatgccagagGcacagcggtggaaggcactt	12	9	0	1			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr18:29054111G>A	ENST00000257189.4	+	15	2212	c.2129G>A	c.(2128-2130)gGc>gAc	p.G710D		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	710					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TATGCCAGAGGCACAGCGGTG	0.443																																						ENST00000257189.4																			0				breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62						c.(2128-2130)gGc>gAc		desmoglein 3							97	87	90					18																	29054111		2203	4300	6503	SO:0001583	missense	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29054111G>A	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.2129G>A	18.37:g.29054111G>A	ENSP00000257189:p.Gly710Asp						p.G710D	NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		15	2212	+			710					A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	c.2129G>A	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724732	0.48833	.	.	ENSG00000134757	ENST00000257189	T	0.58210	0.35	5.68	4.8	0.61643	.	0.000000	0.48286	D	0.000194	T	0.68622	0.3021	M	0.79123	2.44	0.45452	D	0.998422	D	0.60575	0.988	P	0.60173	0.87	T	0.72551	-0.4259	10	0.72032	D	0.01	.	13.3576	0.60638	0.0742:0.0:0.9258:0.0	.	710	P32926	DSG3_HUMAN	D	710	ENSP00000257189:G710D	ENSP00000257189:G710D	G	+	2	0	DSG3	27308109	1.000000	0.71417	0.865000	0.33974	0.057000	0.15508	2.319000	0.43788	2.677000	0.91161	0.650000	0.86243	GGC		0.443	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		3	113	0	0	0	1	0	3	113					A	29054111	G	A	29054111	3	1	421	1	0	0	0	0	1	0	0	0	4778	1203	42	2	2187	2	DSG3	18	29054111	Missense_Mutation	SNP	G	TCGA-FK-A3SG-01A-11D-A22D-08		29054111	49023137	17	8634											
ZNF324B	388569	broad.mit.edu	37	chr19	58966764	58966764	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagaggctcctgctaggctcGcgcagtgaccaggccagcat	14	13	0	2			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr19:58966764G>C	ENST00000336614.4	+	4	560	c.453G>C	c.(451-453)tcG>tcC	p.S151S	ZNF324B_ENST00000545523.1_Silent_p.S151S|ZNF324B_ENST00000391696.1_Silent_p.S141S	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	151					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)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TGCTAGGCTCGCGCAGTGACC	0.632																																						ENST00000391696.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(421-423)tcG>tcC		zinc finger protein 324B							63	68	66					19																	58966764		2203	4300	6503	SO:0001819	synonymous_variant	388569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58966764G>C	AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"Zinc fingers, C2H2-type", "-"	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.453G>C	19.37:g.58966764G>C						ZNF324B_ENST00000545523.1_Silent_p.S151S|ZNF324B_ENST00000336614.4_Silent_p.S151S	p.S141S			Q6AW86	Z324B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	3	1355	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	151					B2RTZ6|Q6ZMX8|Q6ZS42	Silent	SNP	ENST00000336614.4	37	c.423G>C	CCDS33138.1																																																																																				0.632	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467038.1	NM_207395		40	65	0	0	0	1	0	40	65					C	58966764	G	C	58966764	2	2	421	1	0	0	0	0	0	0	0	1	17842	1074	38	4		4	ZNF324B	19	58966764	Silent	SNP	G	TCGA-FK-A3SG-01A-11D-A22D-08		58966764	162219	18	8635											
RNF128	79589	broad.mit.edu	37	chrX	105970419	105970419	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgcccgacgggcccggggcGcttaacgcctgtaacccgca	13	18	0	0			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chrX:105970419G>T	ENST00000255499.2	+	1	526	c.276G>T	c.(274-276)gcG>gcT	p.A92A	RNF128_ENST00000324342.3_Intron	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	92	PA.				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						GGCCCGGGGCGCTTAACGCCT	0.677																																						ENST00000255499.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						c.(274-276)gcG>gcT		ring finger protein 128, E3 ubiquitin protein ligase							20	20	20					X																	105970419		2202	4297	6499	SO:0001819	synonymous_variant	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:105970419G>T	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	ENST00000255499.2:c.276G>T	X.37:g.105970419G>T						RNF128_ENST00000324342.3_Intron	p.A92A	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN			1	526	+			92			PA.		A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Silent	SNP	ENST00000255499.2	37	c.276G>T	CCDS14521.1																																																																																				0.677	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1	NM_024539		6	27	1	0	0.000157383	1	0.000157383	6	27					T	105970419	G	T	105970419	2	4	421	1	0	0	0	0	0	0	0	1	13436	1074	38	4		4	RNF128	23	105970419	Silent	SNP	G	TCGA-FK-A3SG-01A-11D-A22D-08		105970419	49300141	19	8636											
KLHDC7A	127707	broad.mit.edu	37	chr1	18807491	18807491	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcatgttccccagaggaGcagaggcccaggactggcat	14	11	0	2			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr1:18807491G>A	ENST00000400664.1	+	1	68	c.16G>A	c.(16-18)Gca>Aca	p.A6T		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	6						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCAGAGGAGCAGAGGCCCA	0.567																																						ENST00000400664.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(16-18)Gca>Aca		kelch domain containing 7A							52	59	57					1																	18807491		2024	4198	6222	SO:0001583	missense	127707					integral to membrane		g.chr1:18807491G>A	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.16G>A	1.37:g.18807491G>A	ENSP00000383505:p.Ala6Thr						p.A6T	NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	68	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	6					Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	c.16G>A	CCDS185.2	.	.	.	.	.	.	.	.	.	.	G	10.92	1.488478	0.26686	.	.	ENSG00000179023	ENST00000400664	T	0.77098	-1.07	5.62	2.73	0.32206	.	.	.	.	.	T	0.57725	0.2073	N	0.14661	0.345	0.09310	N	1	B	0.23540	0.087	B	0.17433	0.018	T	0.45906	-0.9229	9	0.40728	T	0.16	.	4.6249	0.12474	0.3067:0.0:0.5512:0.1421	.	6	Q5VTJ3	KLD7A_HUMAN	T	6	ENSP00000383505:A6T	ENSP00000383505:A6T	A	+	1	0	KLHDC7A	18680078	0.063000	0.20901	0.866000	0.34008	0.182000	0.23217	0.507000	0.22675	0.322000	0.23283	-0.229000	0.12294	GCA		0.567	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		17	60	0	0	0	1	0	17	60					A	18807491	G	A	18807491	3	1	422	1	0	0	0	0	1	0	0	0	8360	971	34	2	18	2	KLHDC7A	1	18807491	Missense_Mutation	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08		18807491	230443130	1	8637											
RPTN	126638	broad.mit.edu	37	chr1	152128205	152128208	+	Frame_Shift_Del	DEL	TGTC	TGTC	-													catagtgggaactctggcctTgtctgtctgtctgaccatag							TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr1:152128205_152128208delTGTC	ENST00000316073.3	-	3	1431_1434	c.1367_1370delGACA	c.(1366-1371)agacaafs	p.RQ456fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	456	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.52																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1366-1371)aafs		repetin																																				SO:0001589	frameshift_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128205_152128208delTGTC	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1367_1370delGACA	1.37:g.152128213_152128216delTGTC	ENSP00000317895:p.Arg456fs						p.RQ456fs	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1431_1434	-			456			Gln-rich.		B7ZBZ3	Frame_Shift_Del	DEL	ENST00000316073.3	37	c.1367_1370delGACA	CCDS41397.1																																																																																				0.52	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		7	1214						7	1214	---	---	---	---	-	152128208	TGTC	-	152128205	7	5	422	1	0	1	0	1	0	0	0	0	13664	1812	63	0	988	0	RPTN	1	152128205	Frame_Shift_Del	DEL	TGTC	TCGA-FK-A3SH-01A-11D-A22D-08	133320714	152128205	97122416	2	8638											
CCDC19	25790	broad.mit.edu	37	chr1	159863058	159863058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttgacctgttggaagcgGcagaagaggagctcaggatg	15	8	1	3			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr1:159863058G>A	ENST00000368099.4	-	2	105	c.41C>T	c.(40-42)gCc>gTc	p.A14V	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000426543.2_5'UTR	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GTTGGAAGCGGCAGAAGAGGA	0.532																																						ENST00000368099.4																			0				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26						c.(40-42)gCc>gTc		coiled-coil domain containing 19							143	141	142					1																	159863058		2203	4300	6503	SO:0001583	missense	25790					mitochondrion|soluble fraction		g.chr1:159863058G>A																												ENST00000368099.4:c.41C>T	1.37:g.159863058G>A	ENSP00000357079:p.Ala14Val					CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000426543.2_5'UTR	p.A14V	NM_012337.2	NP_036469.2	Q9UL16	CCD19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.151)		2	105	-	all_hematologic(112;0.0597)		14						Missense_Mutation	SNP	ENST00000368099.4	37	c.41C>T	CCDS30914.1	.	.	.	.	.	.	.	.	.	.	G	8.022	0.759857	0.15846	.	.	ENSG00000213085	ENST00000368099	T	0.44083	0.93	5.94	3.98	0.46160	.	0.939887	0.08969	N	0.867444	T	0.06917	0.0176	N	0.03608	-0.345	0.20074	N	0.999934	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.35301	-0.9794	9	.	.	.	-7.9734	7.5713	0.27909	0.0:0.2147:0.6104:0.1749	.	14;14	A8K884;Q9UL16	.;CCD19_HUMAN	V	14	ENSP00000357079:A14V	.	A	-	2	0	CCDC19	158129682	0.001000	0.12720	0.003000	0.11579	0.029000	0.11900	0.584000	0.23864	1.448000	0.47680	0.563000	0.77884	GCC		0.532	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1			4	163	0	0	0	1	0	4	163					A	159863058	G	A	159863058	3	1	422	1	0	0	0	0	1	0	0	0	2795	1203	42	2	1658	2	CCDC19	1	159863058	Missense_Mutation	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08	7734853	159863058	89387563	3	8639											
ASTN1	460	broad.mit.edu	37	chr1	176993813	176993813	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgaggccaatcacacagctGgtgatgctgatcagggtcaa	12	10	3	2			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr1:176993813G>A	ENST00000367654.3	-	6	1387	c.1176C>T	c.(1174-1176)acC>acT	p.T392T	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.T392T|ASTN1_ENST00000361833.2_Silent_p.T392T|ASTN1_ENST00000367657.3_Silent_p.T392T	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	392					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCACACAGCTGGTGATGCTGA	0.517																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(1174-1176)acC>acT		astrotactin 1							165	130	142					1																	176993813		2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176993813G>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1176C>T	1.37:g.176993813G>A						ASTN1_ENST00000367657.3_Silent_p.T392T|ASTN1_ENST00000361833.2_Silent_p.T392T|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.T392T	p.T392T			O14525	ASTN1_HUMAN			6	1189	-			392					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.1176C>T																																																																																					0.517	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		3	59	0	0	0	1	0	3	59					A	176993813	G	A	176993813	2	1	422	1	0	0	0	0	0	0	0	1	1064	1335	47	2		2	ASTN1	1	176993813	Silent	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08	17130755	176993813	72256808	4	8640											
CFH	3075	broad.mit.edu	37	chr1	196715005	196715005	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatggggacattacttcattCccgttgtcagtatatgctcc	8	10	2	0			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr1:196715005C>T	ENST00000367429.4	+	21	3609	c.3369C>T	c.(3367-3369)ttC>ttT	p.F1123F		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1123	Sushi 19. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTACTTCATTCCCGTTGTCAG	0.403																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(3367-3369)ttC>ttT		complement factor H							121	117	118					1																	196715005		2203	4297	6500	SO:0001819	synonymous_variant	3075				complement activation, alternative pathway	extracellular space		g.chr1:196715005C>T	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.3369C>T	1.37:g.196715005C>T							p.F1123F	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			21	3609	+			1123			Sushi 19.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Silent	SNP	ENST00000367429.4	37	c.3369C>T	CCDS1385.1																																																																																				0.403	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		11	137	0	0	0	1	0	11	137					T	196715005	C	T	196715005	2	4	422	1	0	0	0	0	0	0	0	1	3283	854	30	2		2	CFH	1	196715005	Silent	SNP	C	TCGA-FK-A3SH-01A-11D-A22D-08	19721192	196715005	52535616	5	8641											
VWA3B	200403	broad.mit.edu	37	chr2	98809456	98809456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtctcactcaatgaagaGcaaactggacttggtgaagg	11	9	2	3			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr2:98809456G>A	ENST00000477737.1	+	11	1766	c.1562G>A	c.(1561-1563)aGc>aAc	p.S521N	VWA3B_ENST00000451075.2_Missense_Mutation_p.S371N|VWA3B_ENST00000435344.1_Missense_Mutation_p.S521N	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	521	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.									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						TCAATGAAGAGCAAACTGGAC	0.423																																						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.(1561-1563)aGc>aAc		von Willebrand factor A domain containing 3B							178	165	169					2																	98809456		1951	4161	6112	SO:0001583	missense	200403							g.chr2:98809456G>A	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.1562G>A	2.37:g.98809456G>A	ENSP00000417955:p.Ser521Asn					VWA3B_ENST00000435344.1_Missense_Mutation_p.S521N|VWA3B_ENST00000451075.2_Missense_Mutation_p.S371N	p.S521N	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			11	1766	+			521			VWFA.		B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.1562G>A	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.691776	0.68271	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.78246	-1.16;3.1;-1.16	5.59	1.55	0.23275	von Willebrand factor, type A (3);	0.364542	0.25386	N	0.031045	T	0.58878	0.2153	L	0.29908	0.895	0.21719	N	0.999577	B;B;B;B	0.26902	0.082;0.163;0.045;0.002	B;B;B;B	0.33960	0.033;0.173;0.033;0.005	T	0.46373	-0.9196	10	0.05620	T	0.96	.	4.1792	0.10367	0.4273:0.1668:0.4058:0.0	.	371;521;521;521	B7Z7Q7;Q502W6;Q502W6-8;Q502W6-6	.;VWA3B_HUMAN;.;.	N	521;521;371	ENSP00000401959:S521N;ENSP00000417955:S521N;ENSP00000389463:S371N	ENSP00000388158:S521N	S	+	2	0	VWA3B	98175888	1.000000	0.71417	0.957000	0.39632	0.993000	0.82548	1.881000	0.39638	0.240000	0.21263	0.650000	0.86243	AGC		0.423	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		6	140	0	0	0	1	0	6	140					A	98809456	G	A	98809456	3	1	422	1	0	0	0	0	1	0	0	0	17238	971	34	2	1600	2	VWA3B	2	98809456	Missense_Mutation	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08		98809456	144389917	6	8642											
POTEE	445582	broad.mit.edu	37	chr2	132021599	132021599	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgtgatggactctggtgaCggggtcacccacactgtgcc	13	12	2	2	rs531655290	byFrequency	TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr2:132021599C>T	ENST00000356920.5	+	15	2665	c.2571C>T	c.(2569-2571)gaC>gaT	p.D857D	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	857	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											ACTCTGGTGACGGGGTCACCC	0.617													.|||	4	0.000798722	0	0.0014	5008	,	,		23413	0		0	False		,,,				2504	0.0031					ENST00000356920.5																			0											c.(2569-2571)gaC>gaT		POTE ankyrin domain family, member E							67	68	67					2																	132021599		2144	4178	6322	SO:0001819	synonymous_variant	445582						ATP binding	g.chr2:132021599C>T	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2571C>T	2.37:g.132021599C>T						POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	p.D857D	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN			15	2665	+			857			Actin-like.		Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP	ENST00000356920.5	37	c.2571C>T	CCDS46414.1																																																																																				0.617	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		6	234	0	0	0	1	0	6	234					T	132021599	C	T	132021599	2	4	422	1	0	0	0	0	0	0	0	1	12264	535	19	1		1	POTEE	2	132021599	Silent	SNP	C	TCGA-FK-A3SH-01A-11D-A22D-08	33212143	132021599	111177774	7	8643											
HOXD12	3238	broad.mit.edu	37	chr2	176965332	176965332	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagattgcggagttggagaaCgaattcctcgtcaacgaatt	11	8	1	2	rs535102738	byFrequency	TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr2:176965332C>A	ENST00000406506.2	+	2	729	c.657C>A	c.(655-657)aaC>aaA	p.N219K	HOXD12_ENST00000404162.2_Silent_p.R229R			P35452	HXD12_HUMAN	homeobox D12	219					embryonic digit morphogenesis (GO:0042733)|pattern specification process (GO:0007389)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		AGTTGGAGAACGAATTCCTCG	0.567																																						ENST00000406506.2																			0				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10						c.(655-657)aaC>aaA		homeobox D12							34	36	36					2																	176965332		1963	4163	6126	SO:0001583	missense	3238					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176965332C>A		CCDS46456.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170178	ENSG00000170178		"Homeoboxes / ANTP class : HOXL subclass"	5135	protein-coding gene	gene with protein product		142988	"homeo box D12"	HOX4H		1675198, 1973146	Standard	NM_021193		Approved		uc010zev.1	P35452	OTTHUMG00000150358	ENST00000406506.2:c.657C>A	2.37:g.176965332C>A	ENSP00000385586:p.Asn219Lys					HOXD12_ENST00000404162.2_Silent_p.R229R	p.N219K			P35452	HXD12_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)	2	729	+			219					B5MCP0|Q0VAD7|Q0VAD8|Q9NS03	Missense_Mutation	SNP	ENST00000406506.2	37	c.657C>A	CCDS46456.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377746	0.61735	.	.	ENSG00000170178	ENST00000406506	D	0.95588	-3.75	5.29	3.48	0.39840	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.81842	0.4908	N	0.01424	-0.875	0.80722	D	1	P	0.35050	0.482	B	0.34722	0.188	T	0.79931	-0.1595	10	0.02654	T	1	.	7.701	0.28623	0.0:0.7219:0.1335:0.1446	.	219	P35452	HXD12_HUMAN	K	219	ENSP00000385586:N219K	ENSP00000385586:N219K	N	+	3	2	HOXD12	176673578	0.996000	0.38824	1.000000	0.80357	0.991000	0.79684	0.452000	0.21795	0.615000	0.30124	0.655000	0.94253	AAC		0.567	HOXD12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359253.2	NM_021193		5	27	1	0	3.59834e-05	1	3.91819e-05	5	27					A	176965332	C	A	176965332	3	1	422	1	0	0	0	0	1	0	0	0	7321	535	19	4	663	4	HOXD12	2	176965332	Missense_Mutation	SNP	C	TCGA-FK-A3SH-01A-11D-A22D-08	44943733	176965332	66234041	8	8644											
TNS1	7145	broad.mit.edu	37	chr2	218683463	218683463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcactgctctctcccgacgGgaaactccccactgaagtgc	9	16	2	1			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr2:218683463G>A	ENST00000171887.4	-	24	3732	c.3280C>T	c.(3280-3282)Ccg>Tcg	p.P1094S	TNS1_ENST00000430930.1_Missense_Mutation_p.P1073S|TNS1_ENST00000419504.1_Missense_Mutation_p.P1081S	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1094	Ser-rich.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TCTCCCGACGGGAAACTCCCC	0.622																																						ENST00000171887.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(3280-3282)Ccg>Tcg		tensin 1							25	28	27					2																	218683463		2202	4293	6495	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218683463G>A	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.3280C>T	2.37:g.218683463G>A	ENSP00000171887:p.Pro1094Ser					TNS1_ENST00000419504.1_Missense_Mutation_p.P1081S|TNS1_ENST00000430930.1_Missense_Mutation_p.P1073S	p.P1094S	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	24	3732	-		Renal(207;0.0483)|Lung NSC(271;0.213)	1094			Ser-rich.		Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.3280C>T	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.330448	0.41297	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	D;T;D;D	0.91521	-2.85;2.15;-2.85;-2.86	5.27	5.27	0.74061	.	0.312563	0.30620	N	0.009221	D	0.90913	0.7144	N	0.14661	0.345	0.80722	D	1	D;D;B	0.89917	0.991;1.0;0.342	P;D;B	0.85130	0.825;0.997;0.132	D	0.90293	0.4324	10	0.29301	T	0.29	.	18.8929	0.92412	0.0:0.0:1.0:0.0	.	1094;1073;1081	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	S	1094;232;1081;1073	ENSP00000171887:P1094S;ENSP00000394171:P232S;ENSP00000408724:P1081S;ENSP00000406016:P1073S	ENSP00000171887:P1094S	P	-	1	0	TNS1	218391708	1.000000	0.71417	1.000000	0.80357	0.448000	0.32197	6.900000	0.75687	2.472000	0.83506	0.655000	0.94253	CCG		0.622	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		3	59	0	0	0	1	0	3	59					A	218683463	G	A	218683463	3	1	422	1	0	0	0	0	1	0	0	0	16340	1232	43	2	1967	2	TNS1	2	218683463	Missense_Mutation	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08	41718131	218683463	24515910	9	8645											
GLB1L	79411	broad.mit.edu	37	chr2	220108253	220108253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtagcgtcaggctgagcgGcagcagcagggaacgaaggc	17	10	1	1			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr2:220108253G>A	ENST00000295759.7	-	2	356	c.43C>T	c.(43-45)Ccg>Tcg	p.P15S	STK16_ENST00000409260.1_5'Flank|STK16_ENST00000409743.1_5'Flank|GLB1L_ENST00000356283.3_Missense_Mutation_p.P15S|GLB1L_ENST00000392089.2_Missense_Mutation_p.P15S|STK16_ENST00000409516.3_5'Flank|STK16_ENST00000396738.2_5'Flank|GLB1L_ENST00000409640.1_Missense_Mutation_p.P15S|STK16_ENST00000409638.3_5'Flank			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	15					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)		AGGCTGAGCGGCAGCAGCAGG	0.612																																						ENST00000295759.7																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(43-45)Ccg>Tcg		galactosidase, beta 1-like							77	67	71					2																	220108253		2203	4300	6503	SO:0001583	missense	79411				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr2:220108253G>A		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.43C>T	2.37:g.220108253G>A	ENSP00000295759:p.Pro15Ser					GLB1L_ENST00000356283.3_Missense_Mutation_p.P15S|GLB1L_ENST00000392089.2_Missense_Mutation_p.P15S|GLB1L_ENST00000409640.1_Missense_Mutation_p.P15S	p.P15S			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)	2	356	-		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)	15					Q96DR0	Missense_Mutation	SNP	ENST00000295759.7	37	c.43C>T	CCDS2437.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295889	0.40594	.	.	ENSG00000163521	ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283;ENST00000428427;ENST00000424620	D;D;D;D;D	0.96885	-4.16;-3.9;-4.16;-3.9;-3.18	4.97	2.2	0.27929	.	1.389420	0.04151	N	0.321248	D	0.90280	0.6960	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.001	T	0.81818	-0.0758	10	0.22109	T	0.4	1.4498	8.2287	0.31584	0.2672:0.0:0.7328:0.0	.	15;15	Q6UWU2-2;Q6UWU2	.;GLB1L_HUMAN	S	15	ENSP00000295759:P15S;ENSP00000386354:P15S;ENSP00000375939:P15S;ENSP00000348628:P15S;ENSP00000400738:P15S	ENSP00000295759:P15S	P	-	1	0	GLB1L	219816497	0.619000	0.27059	0.578000	0.28575	0.644000	0.38419	0.957000	0.29215	0.804000	0.34136	-0.253000	0.11424	CCG		0.612	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	NM_024506		3	100	0	0	0	1	0	3	100					A	220108253	G	A	220108253	3	1	422	1	0	0	0	0	1	0	0	0	6428	1203	42	2	1985	2	GLB1L	2	220108253	Missense_Mutation	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08	1424790	220108253	23091120	10	8646											
PCDHA4	56144	broad.mit.edu	37	chr5	140188524	140188524	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgagctggtgccatggtcGgtgggtgtgggccacgtggt	20	8	0	0			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr5:140188524G>A	ENST00000530339.1	+	1	1752	c.1752G>A	c.(1750-1752)tcG>tcA	p.S584S	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.S584S|PCDHA4_ENST00000356878.4_Silent_p.S584S|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	584					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)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCATGGTCGGTGGGTGTGG	0.672																																						ENST00000530339.1																			0				breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(1750-1752)tcG>tcA									107	99	102					5																	140188524		2203	4299	6502	SO:0001819	synonymous_variant	0							g.chr5:140188524G>A	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1752G>A	5.37:g.140188524G>A						PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Silent_p.S584S|PCDHA4_ENST00000512229.2_Silent_p.S584S	p.S584S	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1752	+								O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.1752G>A	CCDS54916.1																																																																																				0.672	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		4	156	0	0	0	1	0	4	156					A	140188524	G	A	140188524	2	1	422	1	0	0	0	0	0	0	0	1	11526	1103	39	1		1	PCDHA4	5	140188524	Silent	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08		140188524	40726736	11	8647											
RANBP9	10048	broad.mit.edu	37	chr6	13711709	13711709	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgctgttgctgctgctgcGgcggcggcggcggcggctgc	20	13	0	0			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr6:13711709G>T	ENST00000011619.3	-	1	87	c.29C>A	c.(28-30)cCg>cAg	p.P10Q		NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	10	Poly-Pro.				axon guidance (GO:0007411)|microtubule nucleation (GO:0007020)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			ctgctgctgcggcggcggcgg	0.761																																						ENST00000011619.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16						c.(28-30)cCg>cAg		RAN binding protein 9							4	5	5					6																	13711709		764	1870	2634	SO:0001583	missense	10048				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding	g.chr6:13711709G>T	AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"Ran Binding Protein in the Microtubule organizing center"	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.29C>A	6.37:g.13711709G>T	ENSP00000011619:p.Pro10Gln						p.P10Q	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	Epithelial(50;0.223)		1	87	-	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	10			Poly-Pro.		A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Missense_Mutation	SNP	ENST00000011619.3	37	c.29C>A	CCDS4529.1	.	.	.	.	.	.	.	.	.	.	g	8.018	0.759040	0.15846	.	.	ENSG00000010017	ENST00000011619;ENST00000283152	T	0.78003	-1.14	1.59	-3.18	0.05186	.	.	.	.	.	T	0.30198	0.0757	N	0.08118	0	0.21416	N	0.999694	B	0.18968	0.032	B	0.10450	0.005	T	0.18555	-1.0333	9	0.30854	T	0.27	.	5.1241	0.14875	0.0:0.0:0.4149:0.5851	.	10	Q96S59	RANB9_HUMAN	Q	10	ENSP00000011619:P10Q	ENSP00000011619:P10Q	P	-	2	0	RANBP9	13819688	0.000000	0.05858	0.967000	0.41034	0.688000	0.40055	-1.054000	0.03496	-0.053000	0.13289	0.154000	0.16183	CCG		0.761	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1			2	10	1	0	1	1	1	2	10					T	13711709	G	T	13711709	3	4	422	1	0	0	0	0	1	0	0	0	13032	1116	39	4	2216	4	RANBP9	6	13711709	Missense_Mutation	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08		13711709	157403358	12	8648											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		38	65	0	0	0	1	0	38	65					T	140453136	A	T	140453136	3	4	422	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FK-A3SH-01A-11D-A22D-08		140453136	18685527	13	8649											
TDRD7	23424	broad.mit.edu	37	chr9	100227245	100227245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttgggcagttgctggccGtaaatgccgaggaggacgcc	16	9	0	0	rs376918636		TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr9:100227245G>A	ENST00000355295.4	+	8	1859	c.1564G>A	c.(1564-1566)Gta>Ata	p.V522I	TDRD7_ENST00000422139.2_Missense_Mutation_p.V448I	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	522	Tudor 1. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				GTTGCTGGCCGTAAATGCCGA	0.448																																						ENST00000355295.4																			0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1564-1566)Gta>Ata		tudor domain containing 7		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	99	89	93		1564	3.5	0.0	9		93	0,8600		0,0,4300	no	missense	TDRD7	NM_014290.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	522/1099	100227245	1,13005	2203	4300	6503	SO:0001583	missense	23424				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding	g.chr9:100227245G>A	AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"Tudor domain containing"	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.1564G>A	9.37:g.100227245G>A	ENSP00000347444:p.Val522Ile					TDRD7_ENST00000422139.2_Missense_Mutation_p.V448I	p.V522I	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN			8	1859	+		Acute lymphoblastic leukemia(62;0.158)	522			Tudor 1.		A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Missense_Mutation	SNP	ENST00000355295.4	37	c.1564G>A	CCDS6725.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.461506	0.43736	2.27E-4	0.0	ENSG00000196116	ENST00000355295;ENST00000422139	T;T	0.13538	2.58;2.58	5.32	3.51	0.40186	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.165964	0.52532	N	0.000061	T	0.31765	0.0807	M	0.73962	2.25	0.42496	D	0.992917	D	0.89917	1.0	D	0.63113	0.911	T	0.03384	-1.1042	10	0.45353	T	0.12	-14.303	11.24	0.48964	0.1455:0.0:0.8545:0.0	.	522	Q8NHU6	TDRD7_HUMAN	I	522;448	ENSP00000347444:V522I;ENSP00000413608:V448I	ENSP00000347444:V522I	V	+	1	0	TDRD7	99267066	1.000000	0.71417	0.011000	0.14972	0.432000	0.31715	5.012000	0.64017	0.772000	0.33382	-1.012000	0.02466	GTA		0.448	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290		3	64	0	0	0	1	0	3	64					A	100227245	G	A	100227245	3	1	422	1	0	0	0	0	1	0	0	0	15732	1145	40	1	1590	1	TDRD7	9	100227245	Missense_Mutation	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08		100227245	40986186	14	8650											
COL5A1	1289	broad.mit.edu	37	chr9	137716627	137716627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagattgagcagatgaaacGgcccctgggcacgcagcaga	15	10	0	5			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr9:137716627G>A	ENST00000371817.3	+	62	5294	c.4880G>A	c.(4879-4881)cGg>cAg	p.R1627Q		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1627	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CAGATGAAACGGCCCCTGGGC	0.637																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(4879-4881)cGg>cAg		collagen, type V, alpha 1							61	55	57					9																	137716627		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137716627G>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.4880G>A	9.37:g.137716627G>A	ENSP00000360882:p.Arg1627Gln						p.R1627Q	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	62	5294	+		Myeloproliferative disorder(178;0.0341)	1627			Fibrillar collagen NC1.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.4880G>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214105	0.58452	.	.	ENSG00000130635	ENST00000371817;ENST00000355306	T	0.72942	-0.7	4.16	2.95	0.34219	Fibrillar collagen, C-terminal (3);	0.080378	0.49916	U	0.000140	T	0.57475	0.2056	L	0.49126	1.545	0.28781	N	0.899816	B	0.24920	0.114	B	0.27796	0.083	T	0.44421	-0.9329	10	0.29301	T	0.29	.	3.2628	0.06854	0.448:0.0:0.552:0.0	.	1627	P20908	CO5A1_HUMAN	Q	1627;164	ENSP00000360882:R1627Q	ENSP00000347458:R164Q	R	+	2	0	COL5A1	136856448	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	6.171000	0.71926	2.065000	0.61736	0.539000	0.68188	CGG		0.637	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		4	52	0	0	0	1	0	4	52					A	137716627	G	A	137716627	3	1	422	1	0	0	0	0	1	0	0	0	3696	1116	39	1	5126	1	COL5A1	9	137716627	Missense_Mutation	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08	37489382	137716627	3496804	15	8651											
RET	5979	broad.mit.edu	37	chr10	43606831	43606831	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggcggcccaagtgtgccgaActtcactacatggtggtggc	14	12	1	0			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr10:43606831A>G	ENST00000355710.3	+	7	1672	c.1440A>G	c.(1438-1440)gaA>gaG	p.E480E	RET_ENST00000340058.5_Silent_p.E480E	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	480			E -> K (in HSCR1). {ECO:0000269|PubMed:22174939}.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	AGTGTGCCGAACTTCACTACA	0.627		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"T, Mis, N, F"	ret proto-oncogene	yes	Hirschsprung disease	"E, O"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(1438-1440)gaA>gaG		ret proto-oncogene	Sunitinib(DB01268)						63	59	60					10																	43606831		2203	4300	6503	SO:0001819	synonymous_variant	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43606831A>G	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1440A>G	10.37:g.43606831A>G						RET_ENST00000340058.5_Silent_p.E480E	p.E480E	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			7	1672	+		Ovarian(717;0.0423)	480					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	ENST00000355710.3	37	c.1440A>G	CCDS7200.1																																																																																				0.627	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		26	61	0	0	0	1	0	26	61					G	43606831	A	G	43606831	2	3	422	1	0	0	0	0	0	0	0	1	13235	40	2	3		3	RET	10	43606831	Silent	SNP	A	TCGA-FK-A3SH-01A-11D-A22D-08		43606831	91927916	16	8652											
PGBD3	267004	broad.mit.edu	37	chr10	50723850	50723850	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctttttcagtttctgggaGtaacgactgacaagacacag	9	8	3	2			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr10:50723850G>A	ENST00000374127.3	-	2	1512	c.1311C>T	c.(1309-1311)taC>taT	p.Y437Y	ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000603152.1_Silent_p.Y905Y|ERCC6-PGBD3_ENST00000447839.2_Silent_p.Y905Y|ERCC6-PGBD3_ENST00000515869.1_Silent_p.Y905Y|PGBD3_ENST00000508005.2_Silent_p.Y437Y	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	437										breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						GTTTCTGGGAGTAACGACTGA	0.438																																						ENST00000515869.1																			0											c.(2713-2715)taC>taT									136	125	129					10																	50723850		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr10:50723850G>A	AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.1311C>T	10.37:g.50723850G>A						PGBD3_ENST00000508005.2_Silent_p.Y437Y|ERCC6_ENST00000355832.5_Intron|ERCC6-PGBD3_ENST00000447839.2_Silent_p.Y905Y|PGBD3_ENST00000603152.1_Silent_p.Y905Y|PGBD3_ENST00000374127.3_Silent_p.Y437Y	p.Y905Y	NM_001277059.1	NP_001263988.1					6	2835	-								B3KQC4|Q5W0M0|Q6PIH0	Silent	SNP	ENST00000374127.3	37	c.2715C>T	CCDS7230.1																																																																																				0.438	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047988.1			4	198	0	0	0	1	0	4	198					A	50723850	G	A	50723850	2	1	422	1	0	0	0	0	0	0	0	1	11782	1024	36	2		2	PGBD3	10	50723850	Silent	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08	7117019	50723850	84810897	17	8653											
ZMIZ1	57178	broad.mit.edu	37	chr10	81058872	81058872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtggtgctggagcccttcCgcctggagcacaacctggcg	15	14	0	0			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr10:81058872C>T	ENST00000334512.5	+	16	2304	c.1732C>T	c.(1732-1734)Cgc>Tgc	p.R578C		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	578					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GGAGCCCTTCCGCCTGGAGCA	0.662																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(1732-1734)Cgc>Tgc		zinc finger, MIZ-type containing 1							85	66	72					10																	81058872		2203	4300	6503	SO:0001583	missense	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81058872C>T	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.1732C>T	10.37:g.81058872C>T	ENSP00000334474:p.Arg578Cys						p.R578C	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		16	2304	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		578					Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	c.1732C>T	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.402258	0.83230	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347	T	0.52754	0.65	5.6	4.64	0.57946	.	0.000000	0.41823	D	0.000818	T	0.69043	0.3067	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73248	-0.4043	10	0.87932	D	0	-19.6485	15.2938	0.73888	0.1407:0.8593:0.0:0.0	.	578	Q9ULJ6	ZMIZ1_HUMAN	C	578;508;484	ENSP00000334474:R578C	ENSP00000334474:R578C	R	+	1	0	ZMIZ1	80728878	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.332000	0.43903	2.636000	0.89361	0.585000	0.79938	CGC		0.662	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		4	68	0	0	0	1	0	4	68					T	81058872	C	T	81058872	3	4	422	1	0	0	0	0	1	0	0	0	17693	652	23	1	1778	1	ZMIZ1	10	81058872	Missense_Mutation	SNP	C	TCGA-FK-A3SH-01A-11D-A22D-08	30335022	81058872	54475875	18	8654											
TACC2	10579	broad.mit.edu	37	chr10	123846133	123846133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaggagagacagagggcaGcatggagaggatgggagagc	20	5	0	4	rs149524584		TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr10:123846133G>A	ENST00000369005.1	+	4	4458	c.4118G>A	c.(4117-4119)aGc>aAc	p.S1373N	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.S1373N|TACC2_ENST00000453444.2_Missense_Mutation_p.S1373N|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.S1373N|TACC2_ENST00000515603.1_Missense_Mutation_p.S1373N	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1373					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACAGAGGGCAGCATGGAGAGG	0.607																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(4117-4119)aGc>aAc		transforming, acidic coiled-coil containing protein 2							116	82	94					10																	123846133		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123846133G>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.4118G>A	10.37:g.123846133G>A	ENSP00000358001:p.Ser1373Asn					TACC2_ENST00000453444.2_Missense_Mutation_p.S1373N|TACC2_ENST00000334433.3_Missense_Mutation_p.S1373N|TACC2_ENST00000515273.1_Missense_Mutation_p.S1373N|TACC2_ENST00000515603.1_Missense_Mutation_p.S1373N|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron	p.S1373N	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	4458	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	1373					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.4118G>A	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536486	0.45176	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.08984	3.11;3.22;3.03;3.11;3.22	4.82	2.92	0.33932	.	0.875097	0.09511	N	0.792268	T	0.04770	0.0129	N	0.19112	0.55	0.09310	N	1	B;B;B	0.32203	0.36;0.36;0.116	B;B;B	0.27796	0.083;0.083;0.083	T	0.45175	-0.9279	10	0.18710	T	0.47	-0.4866	4.8363	0.13466	0.1858:0.0:0.646:0.1683	.	1373;1373;1373	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	N	1373;1373;1373;1373;1373;1363	ENSP00000358001:S1373N;ENSP00000424467:S1373N;ENSP00000427618:S1373N;ENSP00000334280:S1373N;ENSP00000395048:S1373N	ENSP00000334280:S1373N	S	+	2	0	TACC2	123836123	0.000000	0.05858	0.001000	0.08648	0.136000	0.21042	-0.413000	0.07123	0.418000	0.25898	0.448000	0.29417	AGC		0.607	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			3	78	0	0	0	1	0	3	78					A	123846133	G	A	123846133	3	1	422	1	0	0	0	0	1	0	0	0	15499	971	34	2	4128	2	TACC2	10	123846133	Missense_Mutation	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08	42787261	123846133	11688614	19	8655											
C2CD3	26005	broad.mit.edu	37	chr11	73759286	73759286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcaagctcctttgaggagGcatgagcaagttggtctagg	13	7	2	2			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr11:73759286G>A	ENST00000334126.7	-	28	5685	c.5459C>T	c.(5458-5460)gCc>gTc	p.A1820V	C2CD3_ENST00000313663.7_Missense_Mutation_p.A1820V			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1820					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CTTTGAGGAGGCATGAGCAAG	0.473																																						ENST00000334126.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.(5458-5460)gCc>gTc		C2 calcium-dependent domain containing 3							84	74	78					11																	73759286		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73759286G>A	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.5459C>T	11.37:g.73759286G>A	ENSP00000334379:p.Ala1820Val					C2CD3_ENST00000313663.7_Missense_Mutation_p.A1820V	p.A1820V			Q4AC94	C2CD3_HUMAN			28	5685	-	Breast(11;4.16e-06)		1820					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.5459C>T		.	.	.	.	.	.	.	.	.	.	G	0.134	-1.110340	0.01813	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	T;T;T	0.14144	2.93;2.94;2.53	4.75	-2.23	0.06930	.	1.093190	0.06692	N	0.769884	T	0.06645	0.0170	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.42783	-0.9431	10	0.17369	T	0.5	3.3706	5.1379	0.14945	0.4907:0.1542:0.3551:0.0	.	1820	Q4AC94-1	.	V	1820;1820;1801;628	ENSP00000334379:A1820V;ENSP00000323339:A1820V;ENSP00000388750:A628V	ENSP00000323339:A1820V	A	-	2	0	C2CD3	73436934	0.003000	0.15002	0.000000	0.03702	0.003000	0.03518	0.747000	0.26290	-0.189000	0.10482	-0.982000	0.02568	GCC		0.473	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		6	20	0	0	0	1	0	6	20					A	73759286	G	A	73759286	3	1	422	1	0	0	0	0	1	0	0	0	2154	1203	42	2	448	2	C2CD3	11	73759286	Missense_Mutation	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08		73759286	61247230	20	8656											
SLCO2B1	11309	broad.mit.edu	37	chr11	74911324	74911324	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caaccccgtgctggcaggatCctgcgactcaacgtgcagcc	11	16	1	0			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr11:74911324C>A	ENST00000289575.5	+	11	2050	c.1655C>A	c.(1654-1656)tCc>tAc	p.S552Y	SLCO2B1_ENST00000532236.1_Missense_Mutation_p.S436Y|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.S325Y|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.S297Y|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.S325Y|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.S530Y|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.S408Y	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	552					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	CTGGCAGGATCCTGCGACTCA	0.622																																						ENST00000289575.5																			0				breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39						c.(1654-1656)tCc>tAc		solute carrier organic anion transporter family, member 2B1	Ergoloid mesylate(DB01049)						118	108	111					11																	74911324		2200	4293	6493	SO:0001583	missense	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74911324C>A	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"Solute carriers"	10962	protein-coding gene	gene with protein product		604988	"solute carrier family 21 (organic anion transporter), member 9"	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.1655C>A	11.37:g.74911324C>A	ENSP00000289575:p.Ser552Tyr					SLCO2B1_ENST00000525650.1_Missense_Mutation_p.S408Y|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.S325Y|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.S530Y|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.S325Y|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.S436Y|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.S297Y	p.S552Y	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN			11	2050	+			552					A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	37	c.1655C>A	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.210404	0.58343	.	.	ENSG00000137491	ENST00000289575;ENST00000341411;ENST00000532236;ENST00000531756;ENST00000525650;ENST00000454962;ENST00000428359	T;T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1;1.1	5.37	5.37	0.77165	Major facilitator superfamily domain, general substrate transporter (1);	0.061393	0.64402	D	0.000005	T	0.59252	0.2180	L	0.55481	1.735	0.51233	D	0.99991	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.995;0.995;0.991;0.995	T	0.53373	-0.8448	10	0.30854	T	0.27	.	16.6086	0.84837	0.0:1.0:0.0:0.0	.	408;297;325;552	E9PPU8;E9PPJ4;O94956-2;O94956	.;.;.;SO2B1_HUMAN	Y	552;325;436;297;408;325;530	ENSP00000289575:S552Y;ENSP00000341286:S325Y;ENSP00000434112:S436Y;ENSP00000432650:S297Y;ENSP00000436324:S408Y;ENSP00000389653:S325Y;ENSP00000388912:S530Y	ENSP00000289575:S552Y	S	+	2	0	SLCO2B1	74588972	1.000000	0.71417	1.000000	0.80357	0.045000	0.14185	3.876000	0.56115	2.524000	0.85096	0.462000	0.41574	TCC		0.622	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		12	218	1	0	5.50884e-06	1	6.13484e-06	12	218					A	74911324	C	A	74911324	3	1	422	1	0	0	0	0	1	0	0	0	14727	855	30	4	1697	4	SLCO2B1	11	74911324	Missense_Mutation	SNP	C	TCGA-FK-A3SH-01A-11D-A22D-08	1152038	74911324	60095192	21	8657											
USP2	9099	broad.mit.edu	37	chr11	119244101	119244101	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccataggaggacggggtGtaggcaccatagcccgactt	14	12	0	0			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr11:119244101G>A	ENST00000260187.2	-	2	384	c.90C>T	c.(88-90)taC>taT	p.Y30Y	USP2_ENST00000455332.2_Intron|RP11-334E6.3_ENST00000530918.2_RNA	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	30	Necessary for interaction with MDM4.				cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		AGGACGGGGTGTAGGCACCAT	0.602																																						ENST00000260187.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24						c.(88-90)taC>taT		ubiquitin specific peptidase 2							55	45	48					11																	119244101		2199	4295	6494	SO:0001819	synonymous_variant	9099				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity	g.chr11:119244101G>A	AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"Ubiquitin-specific peptidases"	12618	protein-coding gene	gene with protein product		604725	"ubiquitin specific protease 2"			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.90C>T	11.37:g.119244101G>A						RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron	p.Y30Y	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)	2	384	-		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)	30			Necessary for interaction with MDM4.		B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Silent	SNP	ENST00000260187.2	37	c.90C>T	CCDS8422.1																																																																																				0.602	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	NM_171997		4	63	0	0	0	1	0	4	63					A	119244101	G	A	119244101	2	1	422	1	0	0	0	0	0	0	0	1	17048	1372	48	2		2	USP2	11	119244101	Silent	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08	44332777	119244101	15762415	22	8658											
VDR	7421	broad.mit.edu	37	chr12	48240527	48240527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgaaggactcattggagcGcaacatgatgacctcaatgg	13	8	2	3			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr12:48240527G>A	ENST00000395324.2	-	8	1088	c.820C>T	c.(820-822)Cgc>Tgc	p.R274C	VDR_ENST00000549336.1_Missense_Mutation_p.R274C|VDR_ENST00000229022.3_Missense_Mutation_p.R274C|VDR_ENST00000535672.1_Missense_Mutation_p.R242C|VDR_ENST00000550325.1_Missense_Mutation_p.R324C			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	274	Ligand-binding.|Vitamin D3 binding.		R -> L (in VDDR2A; decreases affinity for ligand by a factor of 1000). {ECO:0000269|PubMed:8392085}.		bile acid signaling pathway (GO:0038183)|calcium ion transport (GO:0006816)|cell morphogenesis (GO:0000902)|cellular calcium ion homeostasis (GO:0006874)|decidualization (GO:0046697)|gene expression (GO:0010467)|intestinal absorption (GO:0050892)|lactation (GO:0007595)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of calcidiol 1-monooxygenase activity (GO:0060558)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin D receptor signaling pathway (GO:0070561)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcitriol binding (GO:1902098)|calcitriol receptor activity (GO:0008434)|DNA binding (GO:0003677)|lithocholic acid binding (GO:1902121)|lithocholic acid receptor activity (GO:0038186)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Alfacalcidol(DB01436)|Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TCATTGGAGCGCAACATGATG	0.542																																						ENST00000229022.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22						c.(820-822)Cgc>Tgc		vitamin D (1,25- dihydroxyvitamin D3) receptor	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						207	148	168					12																	48240527		2203	4300	6503	SO:0001583	missense	0				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding	g.chr12:48240527G>A	J03258	CCDS8757.1, CCDS55820.1	12q12-q14	2014-06-13				ENSG00000111424		"Nuclear hormone receptors"	12679	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 163"	601769				1662663	Standard	NM_001017536		Approved	NR1I1, PPP1R163	uc001rql.3	P11473		ENST00000395324.2:c.820C>T	12.37:g.48240527G>A	ENSP00000378734:p.Arg274Cys					VDR_ENST00000395324.2_Missense_Mutation_p.R274C|VDR_ENST00000550325.1_Missense_Mutation_p.R324C|VDR_ENST00000549336.1_Missense_Mutation_p.R274C|VDR_ENST00000535672.1_Missense_Mutation_p.R242C	p.R274C	NM_001017535.1	NP_001017535.1	P11473	VDR_HUMAN		GBM - Glioblastoma multiforme(48;0.17)	9	1101	-		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)	274		R -> L (in VDDR2A; decreases affinity for ligand by a factor of 1000).	Ligand-binding.|Vitamin D3 binding.		B2R5Q1|G3V1V9|Q5PSV3	Missense_Mutation	SNP	ENST00000395324.2	37	c.820C>T	CCDS8757.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265827	0.80358	.	.	ENSG00000111424	ENST00000395324;ENST00000229022;ENST00000549336;ENST00000550325;ENST00000535672	D;D;D;D;D	0.96716	-4.1;-4.1;-4.1;-4.1;-4.1	5.23	5.23	0.72850	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98333	0.9447	M	0.88570	2.965	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.993;0.993;1.0	D	0.99243	1.0885	10	0.87932	D	0	.	16.673	0.85271	0.0:0.0:1.0:0.0	.	242;274;324	B4DRV7;P11473;G3V1V9	.;VDR_HUMAN;.	C	274;274;274;324;242	ENSP00000378734:R274C;ENSP00000229022:R274C;ENSP00000449573:R274C;ENSP00000447173:R324C;ENSP00000442145:R242C	ENSP00000229022:R274C	R	-	1	0	VDR	46526794	1.000000	0.71417	0.991000	0.47740	0.412000	0.31113	7.747000	0.85070	2.623000	0.88846	0.655000	0.94253	CGC		0.542	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406433.1			3	79	0	0	0	1	0	3	79					A	48240527	G	A	48240527	3	1	422	1	0	0	0	0	1	0	0	0	17146	1087	38	1	475	1	VDR	12	48240527	Missense_Mutation	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08		48240527	85611368	23	8659											
C12orf10	60314	broad.mit.edu	37	chr12	53700517	53700517	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaggtgcatgtccctggaaGgagcatctctaccacctgga	11	11	1	0			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr12:53700517G>A	ENST00000267103.5	+	6	871	c.819G>A	c.(817-819)aaG>aaA	p.K273K	C12orf10_ENST00000549488.1_Silent_p.K110K|AAAS_ENST00000549983.1_5'Flank|C12orf10_ENST00000548632.1_Silent_p.K198K	NM_021640.3	NP_067653	Q9HB07	MYG1_HUMAN	chromosome 12 open reading frame 10	273					locomotory exploration behavior (GO:0035641)|pigmentation (GO:0043473)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						GTCCCTGGAAGGAGCATCTCT	0.532																																						ENST00000267103.5																			0				cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						c.(817-819)aaG>aaA		chromosome 12 open reading frame 10							149	124	132					12																	53700517		2203	4300	6503	SO:0001819	synonymous_variant	60314							g.chr12:53700517G>A	AF289485	CCDS31810.1	12q13.13	2014-05-29			ENSG00000139637	ENSG00000139637			17590	protein-coding gene	gene with protein product	"melanocyte related gene", "melanocyte proliferating gene 1"	611366					Standard	NM_021640		Approved	MYG, MYG1, Gamm1	uc001scp.4	Q9HB07	OTTHUMG00000170030	ENST00000267103.5:c.819G>A	12.37:g.53700517G>A						C12orf10_ENST00000549488.1_Silent_p.K110K|C12orf10_ENST00000548632.1_Silent_p.K198K	p.K273K	NM_021640.3	NP_067653.3	Q86UA3	Q86UA3_HUMAN			6	871	+			273						Silent	SNP	ENST00000267103.5	37	c.819G>A	CCDS31810.1																																																																																				0.532	C12orf10-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406906.1	NM_021640		3	145	0	0	0	1	0	3	145					A	53700517	G	A	53700517	2	1	422	1	0	0	0	0	0	0	0	1	1674	991	35	2		2	C12orf10	12	53700517	Silent	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08	5459990	53700517	80151378	24	8660											
STAT2	6773	broad.mit.edu	37	chr12	56748323	56748323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgctgctgggccttccactCctccaactttggcagcagta	9	14	0	0			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr12:56748323C>T	ENST00000314128.4	-	8	732	c.709G>A	c.(709-711)Gag>Aag	p.E237K	STAT2_ENST00000418572.2_Missense_Mutation_p.E233K|RNU7-40P_ENST00000516397.1_RNA|STAT2_ENST00000557235.1_Missense_Mutation_p.E233K			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	237					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						GCCTTCCACTCCTCCAACTTT	0.542																																						ENST00000314128.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						c.(709-711)Gag>Aag		signal transducer and activator of transcription 2, 113kDa							141	114	123					12																	56748323		2203	4300	6503	SO:0001583	missense	6773				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:56748323C>T	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"SH2 domain containing"	11363	protein-coding gene	gene with protein product		600556	"signal transducer and activator of transcription 2, 113kD"			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.709G>A	12.37:g.56748323C>T	ENSP00000315768:p.Glu237Lys					STAT2_ENST00000557235.1_Missense_Mutation_p.E233K|STAT2_ENST00000418572.2_Missense_Mutation_p.E233K	p.E237K			P52630	STAT2_HUMAN			8	732	-			237					B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP	ENST00000314128.4	37	c.709G>A	CCDS8917.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604935	0.66445	.	.	ENSG00000170581	ENST00000314128;ENST00000557235;ENST00000418572	T;T;T	0.61627	0.09;0.09;0.09	4.78	2.92	0.33932	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.285481	0.37437	N	0.002083	T	0.64583	0.2611	M	0.81497	2.545	0.46061	D	0.998846	P;P;P	0.49090	0.84;0.744;0.919	P;P;P	0.50896	0.653;0.543;0.61	T	0.63184	-0.6694	10	0.34782	T	0.22	-9.5053	9.4043	0.38451	0.0:0.7737:0.1454:0.0809	.	233;233;237	B4DLC8;G3V2M6;P52630	.;.;STAT2_HUMAN	K	237;233;233	ENSP00000315768:E237K;ENSP00000450751:E233K;ENSP00000387354:E233K	ENSP00000315768:E237K	E	-	1	0	STAT2	55034590	0.973000	0.33851	0.039000	0.18376	0.329000	0.28539	2.523000	0.45580	0.706000	0.31912	0.591000	0.81541	GAG		0.542	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		7	127	0	0	0	1	0	7	127					T	56748323	C	T	56748323	3	4	422	1	0	0	0	0	1	0	0	0	15264	864	30	2	1914	2	STAT2	12	56748323	Missense_Mutation	SNP	C	TCGA-FK-A3SH-01A-11D-A22D-08	3047806	56748323	77103572	25	8661											
SERPINE3	647174	broad.mit.edu	37	chr13	51915275	51915275	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctttcactcttgctgcctCcgagcaaatggccacctccg	7	17	3	0			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr13:51915275C>T	ENST00000521255.1	+	1	108	c.48C>T	c.(46-48)ctC>ctT	p.L16L	SERPINE3_ENST00000400389.4_Silent_p.L16L|SERPINE3_ENST00000524365.1_Silent_p.L16L	NM_001101320.1	NP_001094790.1	A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	16					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			ovary(2)	2						CTTGCTGCCTCCGAGCAAATG	0.542																																						ENST00000524365.1																			0				ovary(2)	2						c.(46-48)ctC>ctT		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3							96	99	98					13																	51915275		2114	4243	6357	SO:0001819	synonymous_variant	647174				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr13:51915275C>T	AX772926	CCDS53870.1	13q14.3	2014-02-18			ENSG00000253309	ENSG00000253309		"Serine (or cysteine) peptidase inhibitors"	24774	protein-coding gene	gene with protein product						24172014	Standard	NM_001101320		Approved		uc001vfh.2	A8MV23	OTTHUMG00000016943	ENST00000521255.1:c.48C>T	13.37:g.51915275C>T						SERPINE3_ENST00000400389.4_Silent_p.L16L|SERPINE3_ENST00000521255.1_Silent_p.L16L	p.L16L			A8MV23	SERP3_HUMAN			4	673	+			16					B1V8P3	Silent	SNP	ENST00000521255.1	37	c.48C>T	CCDS53870.1																																																																																				0.542	SERPINE3-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045021.2	NM_001101320		22	75	0	0	0	1	0	22	75					T	51915275	C	T	51915275	2	4	422	1	0	0	0	0	0	0	0	1	14113	842	30	2		2	SERPINE3	13	51915275	Silent	SNP	C	TCGA-FK-A3SH-01A-11D-A22D-08		51915275	63254603	26	8662											
SLC28A1	9154	broad.mit.edu	37	chr15	85461766	85461766	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcccggcaggttctgcccatCattgtctttttcagctgtgt	9	12	4	0			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr15:85461766C>T	ENST00000286749.3	+	9	897	c.807C>T	c.(805-807)atC>atT	p.I269I	SLC28A1_ENST00000394573.1_Silent_p.I269I|SLC28A1_ENST00000537216.1_Silent_p.I269I|SLC28A1_ENST00000537703.1_Silent_p.I191I|SLC28A1_ENST00000538177.1_Silent_p.I269I|SLC28A1_ENST00000537624.1_Silent_p.I269I			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	269					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	TTCTGCCCATCATTGTCTTTT	0.597																																						ENST00000394573.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(805-807)atC>atT		solute carrier family 28 (concentrative nucleoside transporter), member 1							249	230	237					15																	85461766		2203	4299	6502	SO:0001819	synonymous_variant	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85461766C>T	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"Solute carriers"	11001	protein-coding gene	gene with protein product		606207	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.807C>T	15.37:g.85461766C>T						SLC28A1_ENST00000537216.1_Silent_p.I269I|SLC28A1_ENST00000537624.1_Silent_p.I269I|SLC28A1_ENST00000537703.1_Silent_p.I191I|SLC28A1_ENST00000538177.1_Silent_p.I269I|SLC28A1_ENST00000286749.3_Silent_p.I269I	p.I269I	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		10	1009	+			269					A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Silent	SNP	ENST00000286749.3	37	c.807C>T	CCDS10334.1																																																																																				0.597	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			5	150	0	0	0	1	0	5	150					T	85461766	C	T	85461766	2	4	422	1	0	0	0	0	0	0	0	1	14531	816	29	2		2	SLC28A1	15	85461766	Silent	SNP	C	TCGA-FK-A3SH-01A-11D-A22D-08		85461766	17069626	27	8663											
CREB3L3	84699	broad.mit.edu	37	chr19	4171092	4171092	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcctgtctctctaaggtccCtcttggagcaactgaagaaa	9	11	3	2			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr19:4171092C>A	ENST00000078445.2	+	8	1042	c.895C>A	c.(895-897)Ctc>Atc	p.L299I	CREB3L3_ENST00000602147.1_Missense_Mutation_p.P263H|CREB3L3_ENST00000602257.1_Missense_Mutation_p.L297I|CREB3L3_ENST00000252587.3_Intron|CREB3L3_ENST00000595923.1_Missense_Mutation_p.L298I	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	299	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	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)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTAAGGTCCCTCTTGGAGCA	0.602																																						ENST00000078445.2																			0				breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24						c.(895-897)Ctc>Atc		cAMP responsive element binding protein 3-like 3							79	74	76					19																	4171092		2203	4300	6503	SO:0001583	missense	84699				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:4171092C>A		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"basic leucine zipper proteins"	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.895C>A	19.37:g.4171092C>A	ENSP00000078445:p.Leu299Ile					CREB3L3_ENST00000595923.1_Missense_Mutation_p.L298I|CREB3L3_ENST00000602257.1_Missense_Mutation_p.L297I|CREB3L3_ENST00000602147.1_Missense_Mutation_p.P263H|CREB3L3_ENST00000252587.3_Intron	p.L299I	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1042	+			299			Leucine-zipper.		B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	ENST00000078445.2	37	c.895C>A	CCDS12121.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432416	0.83776	.	.	ENSG00000060566	ENST00000078445	T	0.65178	-0.14	4.98	4.98	0.66077	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	.	.	.	.	T	0.79890	0.4524	M	0.81179	2.53	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.82418	-0.0467	9	0.59425	D	0.04	-40.8717	15.7209	0.77710	0.0:1.0:0.0:0.0	.	297;298;299	B7ZL69;Q68CJ9-2;Q68CJ9	.;.;CR3L3_HUMAN	I	299	ENSP00000078445:L299I	ENSP00000078445:L299I	L	+	1	0	CREB3L3	4122092	0.998000	0.40836	0.998000	0.56505	0.990000	0.78478	3.517000	0.53443	2.303000	0.77524	0.561000	0.74099	CTC		0.602	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607		3	73	1	0	0.004672	1	0.00487081	3	73					A	4171092	C	A	4171092	3	1	422	1	0	0	0	0	1	0	0	0	3858	681	24	4	925	4	CREB3L3	19	4171092	Missense_Mutation	SNP	C	TCGA-FK-A3SH-01A-11D-A22D-08		4171092	54957891	28	8664											
DNTTIP1	116092	broad.mit.edu	37	chr20	44420653	44420653	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccgggggcgccatgggagccActggcgacgccgagcagccg	18	15	0	0			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr20:44420653A>T	ENST00000372622.3	+	1	78	c.10A>T	c.(10-12)Act>Tct	p.T4S	WFDC3_ENST00000243938.4_5'Flank|WFDC3_ENST00000372630.2_5'Flank|WFDC3_ENST00000481847.1_5'Flank|WFDC3_ENST00000372632.2_5'Flank	NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	4						nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				CATGGGAGCCACTGGCGACGC	0.741																																						ENST00000372622.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						c.(10-12)Act>Tct		deoxynucleotidyltransferase, terminal, interacting protein 1							3	4	4					20																	44420653		1479	3316	4795	SO:0001583	missense	116092					nucleus		g.chr20:44420653A>T	AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)", "TdT binding protein"	611388	"chromosome 20 open reading frame 167"	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.10A>T	20.37:g.44420653A>T	ENSP00000361705:p.Thr4Ser						p.T4S	NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN			1	78	+		Myeloproliferative disorder(115;0.0122)	4					B2RA18|Q96DE3|Q9BQP2|Q9H148	Missense_Mutation	SNP	ENST00000372622.3	37	c.10A>T	CCDS13369.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.470129	0.84533	.	.	ENSG00000101457	ENST00000372622	T	0.46063	0.88	5.22	4.05	0.47172	.	0.462189	0.24165	N	0.040949	T	0.26666	0.0652	N	0.08118	0	0.26151	N	0.980135	D	0.56287	0.975	P	0.49953	0.627	T	0.06463	-1.0825	10	0.15952	T	0.53	-14.7002	8.6983	0.34310	0.8078:0.1922:0.0:0.0	.	4	Q9H147	TDIF1_HUMAN	S	4	ENSP00000361705:T4S	ENSP00000361705:T4S	T	+	1	0	DNTTIP1	43854060	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	1.582000	0.36568	2.082000	0.62665	0.455000	0.32223	ACT		0.741	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079502.1	NM_052951		5	3	0	0	0	1	0	5	3					T	44420653	A	T	44420653	3	4	422	1	0	0	0	0	1	0	0	0	4681	159	6	5	12	5	DNTTIP1	20	44420653	Missense_Mutation	SNP	A	TCGA-FK-A3SH-01A-11D-A22D-08		44420653	18604867	29	8665											
NHSL2	340527	broad.mit.edu	37	chrX	71360504	71360504	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caaggctgcctctcagccccAtcatcaccctggaggaagac	9	16	3	1			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chrX:71360504A>C	ENST00000373677.1	+	2	3270	c.2008A>C	c.(2008-2010)Atc>Ctc	p.I670L	NHSL2_ENST00000510661.1_Missense_Mutation_p.I805L|NHSL2_ENST00000540800.1_Missense_Mutation_p.I1036L|NHSL2_ENST00000535692.1_Missense_Mutation_p.I670L			Q5HYW2	NHSL2_HUMAN	NHS-like 2	670								p.I667V(1)|p.I1036V(1)		NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					TCTCAGCCCCATCATCACCCT	0.557																																						ENST00000373677.1																			2	Substitution - Missense(2)	p.I667V(1)|p.I1036V(1)	kidney(2)	NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28						c.(2008-2010)Atc>Ctc		NHS-like 2							54	53	53					X																	71360504		2203	4300	6503	SO:0001583	missense	340527							g.chrX:71360504A>C			Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.2008A>C	X.37:g.71360504A>C	ENSP00000362781:p.Ile670Leu					NHSL2_ENST00000535692.1_Missense_Mutation_p.I670L|NHSL2_ENST00000540800.1_Missense_Mutation_p.I1036L|NHSL2_ENST00000510661.1_Missense_Mutation_p.I805L	p.I670L			F5H593	F5H593_HUMAN			2	3270	+	Renal(35;0.156)		1036					B2RN94	Missense_Mutation	SNP	ENST00000373677.1	37	c.2008A>C		.	.	.	.	.	.	.	.	.	.	A	17.84	3.487173	0.63962	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.55413	1.37;0.58;0.52;0.58	6.08	6.08	0.98989	.	0.065234	0.64402	D	0.000016	T	0.67571	0.2907	L	0.54323	1.7	0.36385	D	0.862173	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.77557	0.99;0.99;0.99	T	0.75722	-0.3218	10	0.72032	D	0.01	-14.7661	13.2767	0.60191	1.0:0.0:0.0:0.0	.	1036;805;670	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	L	1036;670;805;670	ENSP00000444617:I1036L;ENSP00000362781:I670L;ENSP00000424079:I805L;ENSP00000444914:I670L	ENSP00000362781:I670L	I	+	1	0	NHSL2	71277229	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.629000	0.46485	2.044000	0.60594	0.486000	0.48141	ATC		0.557	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627		8	75	0	0	0	1	0	8	75					C	71360504	A	C	71360504	3	2	422	1	0	0	0	0	1	0	0	0	10412	217	8	5	3128	5	NHSL2	23	71360504	Missense_Mutation	SNP	A	TCGA-FK-A3SH-01A-11D-A22D-08		71360504	83910056	30	8666											
BTK	695	broad.mit.edu	37	chrX	100630267	100630267	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctctccagaatcactgcGgccatagcttcttctttctg	7	13	5	1	rs372818780		TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chrX:100630267G>A	ENST00000308731.7	-	2	169	c.6C>T	c.(4-6)gcC>gcT	p.A2A	BTK_ENST00000372880.1_Silent_p.A2A|BTK_ENST00000464567.1_5'UTR	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	2					adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|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)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GAATCACTGCGGCCATAGCTT	0.468									Agammaglobulinemia, X-linked																													ENST00000308731.7																			0				breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(4-6)gcC>gcT		Bruton agammaglobulinemia tyrosine kinase							130	119	123					X																	100630267		2203	4300	6503	SO:0001819	synonymous_variant	695	Agammaglobulinemia, X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100630267G>A	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.6C>T	X.37:g.100630267G>A						BTK_ENST00000372880.1_Silent_p.A2A|BTK_ENST00000464567.1_5'UTR	p.A2A	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN			2	169	-			2					B2RAW1|Q32ML5	Silent	SNP	ENST00000308731.7	37	c.6C>T	CCDS14482.1																																																																																				0.468	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		9	111	0	0	0	1	0	9	111					A	100630267	G	A	100630267	2	1	422	1	0	0	0	0	0	0	0	1	1557	1103	39	1		1	BTK	23	100630267	Silent	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08	29269763	100630267	54640293	31	8667											
BCORL1	63035	broad.mit.edu	37	chrX	129148839	129148839	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgagatcgtgaggaatggGgacccgagcacctgggtgaa	16	10	0	3	rs199575306		TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chrX:129148839G>A	ENST00000218147.7	+	4	2288	c.2091G>A	c.(2089-2091)ggG>ggA	p.G697G	BCORL1_ENST00000303743.5_Silent_p.G697G|BCORL1_ENST00000540052.1_Silent_p.G697G|BCORL1_ENST00000359304.2_Silent_p.G697G			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	697					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TGAGGAATGGGGACCCGAGCA	0.607																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(2089-2091)ggG>ggA		BCL6 corepressor-like 1							81	65	70					X																	129148839		2203	4300	6503	SO:0001819	synonymous_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129148839G>A	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.2091G>A	X.37:g.129148839G>A						BCORL1_ENST00000218147.7_Silent_p.G697G|BCORL1_ENST00000359304.2_Silent_p.G697G|BCORL1_ENST00000303743.5_Silent_p.G697G	p.G697G	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			3	2135	+			697					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Silent	SNP	ENST00000218147.7	37	c.2091G>A	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	0.979	-0.697720	0.03279	.	.	ENSG00000085185	ENST00000441294	.	.	.	5.28	-3.08	0.05347	.	0.000000	0.37012	N	0.002288	T	0.43875	0.1267	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27434	-1.0074	6	0.42905	T	0.14	-15.216	2.5454	0.04736	0.4216:0.1838:0.2965:0.0981	.	.	.	.	R	133	.	ENSP00000416520:G133R	G	+	1	0	BCORL1	128976520	0.993000	0.37304	0.752000	0.31206	0.538000	0.34931	0.175000	0.16762	-0.869000	0.04052	0.436000	0.28706	GGA		0.607	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		3	121	0	0	0	1	0	3	121					A	129148839	G	A	129148839	2	1	422	1	0	0	0	0	0	0	0	1	1387	1219	43	2		2	BCORL1	23	129148839	Silent	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08	28518572	129148839	26121721	32	8668											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17982398	17982398	+	Frame_Shift_Del	DEL	G	G	-													ggggcggacaggaaggcgcaGggggccaggtggaaatcttt							TCGA-FK-A4UB-01A-11D-A257-08	TCGA-FK-A4UB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27a87b73-18e7-4a46-919a-b8d2c61b7e68	ec0b1542-f2d7-40f1-8adb-c3d1e579be03	g.chr1:17982398delG	ENST00000361221.3	+	24	2665	c.2506delG	c.(2506-2508)gggfs	p.G837fs	ARHGEF10L_ENST00000375415.1_Frame_Shift_Del_p.G798fs|ARHGEF10L_ENST00000375408.3_Frame_Shift_Del_p.G610fs|ARHGEF10L_ENST00000434513.1_Frame_Shift_Del_p.G832fs|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000452522.1_Frame_Shift_Del_p.G798fs|ARHGEF10L_ENST00000167825.4_Frame_Shift_Del_p.G540fs	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	837						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)		GGAAGGCGCAGGGGGCCAGGT	0.642																																						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.(2506-2508)ggfs		Rho guanine nucleotide exchange factor (GEF) 10-like							16	19	18					1																	17982398		2175	4250	6425	SO:0001589	frameshift_variant	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17982398delG	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.2506delG	1.37:g.17982398delG	ENSP00000355060:p.Gly837fs					ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Frame_Shift_Del_p.G798fs|ARHGEF10L_ENST00000375408.3_Frame_Shift_Del_p.G610fs|ARHGEF10L_ENST00000434513.1_Frame_Shift_Del_p.G832fs|ARHGEF10L_ENST00000167825.4_Frame_Shift_Del_p.G540fs|ARHGEF10L_ENST00000452522.1_Frame_Shift_Del_p.G798fs	p.G837fs	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)	24	2665	+		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)	837					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Frame_Shift_Del	DEL	ENST00000361221.3	37	c.2506delG	CCDS182.1																																																																																				0.642	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		2	4						2	4	---	---	---	---	-	17982398	G	-	17982398	7	5	423	1	0	1	0	1	0	0	0	0	895	1000	35	0	2596	0	ARHGEF10L	1	17982398	Frame_Shift_Del	DEL	G	TCGA-FK-A4UB-01A-11D-A257-08		17982398	231268223	1	8669											
UBR4	23352	broad.mit.edu	37	chr1	19525140	19525140	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttttgcctcaactcaggGcttactggtgaggccagctc	10	13	2	1			TCGA-FK-A4UB-01A-11D-A257-08	TCGA-FK-A4UB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27a87b73-18e7-4a46-919a-b8d2c61b7e68	ec0b1542-f2d7-40f1-8adb-c3d1e579be03	g.chr1:19525140G>A	ENST00000375254.3	-	5	570	c.543C>T	c.(541-543)agC>agT	p.S181S	UBR4_ENST00000375217.2_Silent_p.S181S|UBR4_ENST00000375267.2_Silent_p.S181S|UBR4_ENST00000375226.2_Silent_p.S181S	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	181					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V180fs*18(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCAACTCAGGGCTTACTGGTG	0.443																																						ENST00000375267.2																			1	Deletion - Frameshift(1)	p.V180fs*18(1)	kidney(1)	breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(541-543)agC>agT		ubiquitin protein ligase E3 component n-recognin 4							80	81	80					1																	19525140		2203	4300	6503	SO:0001819	synonymous_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19525140G>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.543C>T	1.37:g.19525140G>A						UBR4_ENST00000375226.2_Silent_p.S181S|UBR4_ENST00000375254.3_Silent_p.S181S|UBR4_ENST00000375217.2_Silent_p.S181S	p.S181S			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	5	546	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	181					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.543C>T	CCDS189.1																																																																																				0.443	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		20	28	0	0	0	1	0	20	28					A	19525140	G	A	19525140	2	1	423	1	0	0	0	0	0	0	0	1	16901	1194	42	2		2	UBR4	1	19525140	Silent	SNP	G	TCGA-FK-A4UB-01A-11D-A257-08	1542742	19525140	229725481	2	8670											
CEP350	9857	broad.mit.edu	37	chr1	180022212	180022212	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tactaccttcagagagtcacCgcagatttaacatggaaaag	8	9	2	2			TCGA-FK-A4UB-01A-11D-A257-08	TCGA-FK-A4UB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27a87b73-18e7-4a46-919a-b8d2c61b7e68	ec0b1542-f2d7-40f1-8adb-c3d1e579be03	g.chr1:180022212C>A	ENST00000367607.3	+	23	5318	c.4900C>A	c.(4900-4902)Cgc>Agc	p.R1634S		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1634					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGAGAGTCACCGCAGATTTAA	0.378																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(4900-4902)Cgc>Agc		centrosomal protein 350kDa							81	81	81					1																	180022212		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:180022212C>A	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.4900C>A	1.37:g.180022212C>A	ENSP00000356579:p.Arg1634Ser						p.R1634S	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			23	5318	+			1634					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.4900C>A	CCDS1336.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.347427|5.347427	0.95807|0.95807	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000418229|ENST00000367607	.|T	.|0.66815	.|-0.23	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.282846	.|0.25341	.|N	.|0.031362	T|T	0.73705|0.73705	0.3621|0.3621	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.998	T|T	0.70554|0.70554	-0.4840|-0.4840	5|9	.|.	.|.	.|.	.|.	19.6253|19.6253	0.95676|0.95676	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1634;1634	.|E7EU22;Q5VT06	.|.;CE350_HUMAN	Q|S	273|1634	.|ENSP00000356579:R1634S	.|.	P|R	+|+	2|1	0|0	CEP350|CEP350	178288835|178288835	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.687000|5.687000	0.68219|0.68219	2.794000|2.794000	0.96219|0.96219	0.650000|0.650000	0.86243|0.86243	CCG|CGC		0.378	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		3	15	1	0	0.115264	1	0.115264	3	15					A	180022212	C	A	180022212	3	1	423	1	0	0	0	0	1	0	0	0	3254	652	23	4	4986	4	CEP350	1	180022212	Missense_Mutation	SNP	C	TCGA-FK-A4UB-01A-11D-A257-08	160497072	180022212	69228409	3	8671											
KIF5C	3800	broad.mit.edu	37	chr2	149793841	149793841	+	Frame_Shift_Del	DEL	T	T	-													catggggatcatcccacgaaTtgcccatgatatctttgacc							TCGA-FK-A4UB-01A-11D-A257-08	TCGA-FK-A4UB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27a87b73-18e7-4a46-919a-b8d2c61b7e68	ec0b1542-f2d7-40f1-8adb-c3d1e579be03	g.chr2:149793841delT	ENST00000435030.1	+	4	703	c.335delT	c.(334-336)attfs	p.I112fs	KIF5C_ENST00000414838.2_Frame_Shift_Del_p.I17fs			O60282	KIF5C_HUMAN	kinesin family member 5C	112	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		ATCCCACGAATTGCCCATGAT	0.493																																						ENST00000435030.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(334-336)atfs		kinesin family member 5C							51	49	49					2																	149793841		1946	4190	6136	SO:0001589	frameshift_variant	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149793841delT	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"Kinesins"	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.335delT	2.37:g.149793841delT	ENSP00000393379:p.Ile112fs					KIF5C_ENST00000414838.2_Frame_Shift_Del_p.I17fs	p.I112fs			O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	4	703	+			112			Kinesin-motor.		O95079|Q2YDC5	Frame_Shift_Del	DEL	ENST00000435030.1	37	c.335delT																																																																																					0.493	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		2	4						2	4	---	---	---	---	-	149793841	T	-	149793841	7	5	423	1	0	1	0	1	0	0	0	0	8307	1493	52	0	271	0	KIF5C	2	149793841	Frame_Shift_Del	DEL	T	TCGA-FK-A4UB-01A-11D-A257-08		149793841	93405532	4	8672											
RASGEF1B	153020	broad.mit.edu	37	chr4	82369389	82369389	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actggctgagcgcagcaagcTtgcggatcagacactgcatc	12	12	1	2			TCGA-FK-A4UB-01A-11D-A257-08	TCGA-FK-A4UB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27a87b73-18e7-4a46-919a-b8d2c61b7e68	ec0b1542-f2d7-40f1-8adb-c3d1e579be03	g.chr4:82369389T>C	ENST00000264400.2	-	5	639	c.488A>G	c.(487-489)aAg>aGg	p.K163R	RASGEF1B_ENST00000335927.7_Missense_Mutation_p.K121R|RASGEF1B_ENST00000509081.1_Missense_Mutation_p.K162R	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	163	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						CGCAGCAAGCTTGCGGATCAG	0.483																																						ENST00000509081.1																			0				endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						c.(484-486)aAg>aGg		RasGEF domain family, member 1B							200	176	184					4																	82369389		2203	4300	6503	SO:0001583	missense	153020				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr4:82369389T>C	AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.488A>G	4.37:g.82369389T>C	ENSP00000264400:p.Lys163Arg					RASGEF1B_ENST00000264400.2_Missense_Mutation_p.K163R|RASGEF1B_ENST00000335927.7_Missense_Mutation_p.K121R	p.K162R			Q0VAM2	RGF1B_HUMAN			5	706	-			163			N-terminal Ras-GEF.		Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Missense_Mutation	SNP	ENST00000264400.2	37	c.485A>G	CCDS34022.1	.	.	.	.	.	.	.	.	.	.	T	9.690	1.151737	0.21371	.	.	ENSG00000138670	ENST00000509081;ENST00000264400;ENST00000335927;ENST00000504863	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.31	5.31	0.75309	Ras guanine nucleotide exchange factor, domain (1);	0.045497	0.85682	D	0.000000	T	0.14874	0.0359	N	0.05177	-0.1	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.10450	0.005;0.003;0.002	T	0.08659	-1.0711	10	0.06494	T	0.89	.	15.0996	0.72262	0.0:0.0:0.0:1.0	.	121;162;163	Q0VAM2-2;Q0VAM2-3;Q0VAM2	.;.;RGF1B_HUMAN	R	162;163;121;8	ENSP00000425393:K162R;ENSP00000264400:K163R;ENSP00000338437:K121R;ENSP00000426929:K8R	ENSP00000264400:K163R	K	-	2	0	RASGEF1B	82588413	1.000000	0.71417	0.920000	0.36463	0.864000	0.49448	5.539000	0.67199	2.243000	0.73865	0.482000	0.46254	AAG		0.483	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1	NM_152545		5	93	0	0	0	1	0	5	93					C	82369389	T	C	82369389	3	2	423	1	0	0	0	0	1	0	0	0	13070	1609	56	3	973	3	RASGEF1B	4	82369389	Missense_Mutation	SNP	T	TCGA-FK-A4UB-01A-11D-A257-08		82369389	108784887	5	8673											
MLXIPL	51085	broad.mit.edu	37	chr7	73020366	73020366	+	Frame_Shift_Del	DEL	C	C	-													acccggctcctcctctgggtCccccagcagcacggggacca							TCGA-FK-A4UB-01A-11D-A257-08	TCGA-FK-A4UB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27a87b73-18e7-4a46-919a-b8d2c61b7e68	ec0b1542-f2d7-40f1-8adb-c3d1e579be03	g.chr7:73020366delC	ENST00000313375.3	-	6	741	c.694delG	c.(694-696)gacfs	p.D232fs	MLXIPL_ENST00000354613.1_Frame_Shift_Del_p.D232fs|MLXIPL_ENST00000429400.2_Frame_Shift_Del_p.D232fs|MLXIPL_ENST00000414749.2_Frame_Shift_Del_p.D232fs|MLXIPL_ENST00000395189.1_Intron|MLXIPL_ENST00000434326.1_Intron	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	232					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)				TCCTCTGGGTCCCCCAGCAGC	0.632																																						ENST00000313375.3																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(694-696)acfs		MLX interacting protein-like							22	24	23					7																	73020366		2202	4297	6499	SO:0001589	frameshift_variant	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.chr7:73020366delC	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.694delG	7.37:g.73020366delC	ENSP00000320886:p.Asp232fs					MLXIPL_ENST00000395189.1_Intron|MLXIPL_ENST00000354613.1_Frame_Shift_Del_p.D232fs|MLXIPL_ENST00000434326.1_Intron|MLXIPL_ENST00000429400.2_Frame_Shift_Del_p.D232fs|MLXIPL_ENST00000414749.2_Frame_Shift_Del_p.D232fs	p.D232fs	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN			6	741	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	232					C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Frame_Shift_Del	DEL	ENST00000313375.3	37	c.694delG	CCDS5553.1																																																																																				0.632	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	NM_032951		2	4						2	4	---	---	---	---	-	73020366	C	-	73020366	7	5	423	1	0	1	0	1	0	0	0	0	9637	855	30	0	1912	0	MLXIPL	7	73020366	Frame_Shift_Del	DEL	C	TCGA-FK-A4UB-01A-11D-A257-08		73020366	86118297	6	8674											
TRIP11	9321	broad.mit.edu	37	chr14	92484052	92484052	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatattttgtagtttacataTttcactttgatcagagttat	6	4	2	2			TCGA-FK-A4UB-01A-11D-A257-08	TCGA-FK-A4UB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27a87b73-18e7-4a46-919a-b8d2c61b7e68	ec0b1542-f2d7-40f1-8adb-c3d1e579be03	g.chr14:92484052T>C	ENST00000267622.4	-	5	1004	c.631A>G	c.(631-633)Ata>Gta	p.I211V		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	211					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		AGTTTACATATTTCACTTTGA	0.299			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(631-633)Ata>Gta		thyroid hormone receptor interactor 11							94	83	87					14																	92484052		2201	4296	6497	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92484052T>C	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.631A>G	14.37:g.92484052T>C	ENSP00000267622:p.Ile211Val						p.I211V	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	5	1004	-			211					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.631A>G	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	T	12.44	1.939215	0.34189	.	.	ENSG00000100815	ENST00000267622;ENST00000555516	T;T	0.66460	-0.21;-0.21	5.12	3.97	0.46021	.	0.118100	0.56097	N	0.000032	T	0.57286	0.2043	L	0.47190	1.495	0.33297	D	0.564295	B	0.18013	0.025	B	0.24006	0.05	T	0.59648	-0.7415	10	0.21014	T	0.42	.	10.8992	0.47040	0.0:0.0746:0.0:0.9254	.	211	Q15643	TRIPB_HUMAN	V	211;50	ENSP00000267622:I211V;ENSP00000451944:I50V	ENSP00000267622:I211V	I	-	1	0	TRIP11	91553805	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.988000	0.40697	0.891000	0.36235	0.533000	0.62120	ATA		0.299	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			7	8	0	0	0	1	0	7	8					C	92484052	T	C	92484052	3	2	423	1	0	0	0	0	1	0	0	0	16552	1493	52	3	5376	3	TRIP11	14	92484052	Missense_Mutation	SNP	T	TCGA-FK-A4UB-01A-11D-A257-08		92484052	14865488	7	8675											
TBX2	6909	broad.mit.edu	37	chr17	59485502	59485502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccgcctcggctttgcccGccactagtgctgcagctgcc	11	18	0	0			TCGA-FK-A4UB-01A-11D-A257-08	TCGA-FK-A4UB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27a87b73-18e7-4a46-919a-b8d2c61b7e68	ec0b1542-f2d7-40f1-8adb-c3d1e579be03	g.chr17:59485502G>A	ENST00000240328.3	+	7	2055	c.1774G>A	c.(1774-1776)Gcc>Acc	p.A592T	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	592	Ala-rich.|Repression domain 1 (RD1).				aorta morphogenesis (GO:0035909)|atrioventricular canal development (GO:0036302)|cardiac muscle tissue development (GO:0048738)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|developmental growth involved in morphogenesis (GO:0060560)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|endocardial cushion morphogenesis (GO:0003203)|mammary placode formation (GO:0060596)|muscle cell fate determination (GO:0007521)|negative regulation of cardiac chamber formation (GO:1901211)|negative regulation of heart looping (GO:1901208)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|palate development (GO:0060021)|pharynx development (GO:0060465)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(7)|ovary(1)	9						ggctttgcccgccactagtgc	0.672																																					GBM(3;187 253 11467 14965 23079)	ENST00000240328.3																			0				endometrium(1)|lung(7)|ovary(1)	9						c.(1774-1776)Gcc>Acc		T-box 2							11	14	13					17																	59485502		2030	4050	6080	SO:0001583	missense	6909				cell aging|positive regulation of cell proliferation		sequence-specific DNA binding	g.chr17:59485502G>A	AB209378	CCDS11627.2	17q23.2	2012-01-23			ENSG00000121068	ENSG00000121068		"T-boxes"	11597	protein-coding gene	gene with protein product		600747				8530034	Standard	NM_005994		Approved		uc010wox.2	Q13207	OTTHUMG00000156986	ENST00000240328.3:c.1774G>A	17.37:g.59485502G>A	ENSP00000240328:p.Ala592Thr					RP11-332H18.4_ENST00000592009.1_RNA	p.A592T	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN			7	2055	+			592			Ala-rich.		Q16424|Q7Z647	Missense_Mutation	SNP	ENST00000240328.3	37	c.1774G>A	CCDS11627.2	.	.	.	.	.	.	.	.	.	.	G	23.8	4.457912	0.84317	.	.	ENSG00000121068	ENST00000240328	D	0.87729	-2.29	5.01	5.01	0.66863	.	0.593663	0.16529	N	0.210432	T	0.78227	0.4250	N	0.14661	0.345	0.47819	D	0.999522	P	0.52842	0.956	B	0.39299	0.296	T	0.81848	-0.0744	10	0.52906	T	0.07	.	17.061	0.86547	0.0:0.0:1.0:0.0	.	592	Q13207	TBX2_HUMAN	T	592	ENSP00000240328:A592T	ENSP00000240328:A592T	A	+	1	0	TBX2	56840284	.	.	1.000000	0.80357	0.887000	0.51463	.	.	2.608000	0.88229	0.655000	0.94253	GCC		0.672	TBX2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346977.2	NM_005994		3	15	0	0	0	1	0	3	15					A	59485502	G	A	59485502	3	1	423	1	0	0	0	0	1	0	0	0	15652	1087	38	1	1800	1	TBX2	17	59485502	Missense_Mutation	SNP	G	TCGA-FK-A4UB-01A-11D-A257-08		59485502	21709708	8	8676											
UNC13D	201294	broad.mit.edu	37	chr17	73830422	73830422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacctgctcggccagggtgCggacgccagtgcggatctca	15	13	1	0			TCGA-FK-A4UB-01A-11D-A257-08	TCGA-FK-A4UB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27a87b73-18e7-4a46-919a-b8d2c61b7e68	ec0b1542-f2d7-40f1-8adb-c3d1e579be03	g.chr17:73830422C>T	ENST00000207549.4	-	23	2661	c.2282G>A	c.(2281-2283)cGc>cAc	p.R761H	UNC13D_ENST00000412096.2_Missense_Mutation_p.R761H	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	761					defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCCAGGGTGCGGACGCCAGT	0.682									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000207549.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2281-2283)cGc>cAc		unc-13 homolog D (C. elegans)							30	26	27					17																	73830422		2198	4293	6491	SO:0001583	missense	201294	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	g.chr17:73830422C>T	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.2282G>A	17.37:g.73830422C>T	ENSP00000207549:p.Arg761His					UNC13D_ENST00000412096.2_Missense_Mutation_p.R761H	p.R761H	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)		23	2661	-			761					B4DWG9|Q9H7K5	Missense_Mutation	SNP	ENST00000207549.4	37	c.2282G>A	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.613879	0.28712	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	T;T	0.70749	-0.49;-0.51	4.79	2.81	0.32909	.	0.480344	0.22763	N	0.055922	T	0.54727	0.1876	L	0.36672	1.1	0.34002	D	0.650405	B;P	0.44816	0.001;0.844	B;B	0.38616	0.003;0.277	T	0.62742	-0.6790	10	0.46703	T	0.11	-1.2816	6.1962	0.20552	0.0:0.5833:0.0:0.4167	.	761;761	Q70J99-3;Q70J99	.;UN13D_HUMAN	H	761	ENSP00000207549:R761H;ENSP00000388093:R761H	ENSP00000207549:R761H	R	-	2	0	UNC13D	71342017	0.960000	0.32886	0.948000	0.38648	0.280000	0.26924	1.788000	0.38714	0.629000	0.30376	-0.463000	0.05309	CGC		0.682	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950		3	10	0	0	0	1	0	3	10					T	73830422	C	T	73830422	3	4	423	1	0	0	0	0	1	0	0	0	16984	768	27	1	1030	1	UNC13D	17	73830422	Missense_Mutation	SNP	C	TCGA-FK-A4UB-01A-11D-A257-08	14344920	73830422	7364788	9	8677											
CCDC8	83987	broad.mit.edu	37	chr19	46915066	46915066	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgcagcctcttccctctgAttatctgcagcctctgcccc	6	18	5	1			TCGA-FK-A4UB-01A-11D-A257-08	TCGA-FK-A4UB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27a87b73-18e7-4a46-919a-b8d2c61b7e68	ec0b1542-f2d7-40f1-8adb-c3d1e579be03	g.chr19:46915066A>G	ENST00000307522.3	-	1	1775	c.1002T>C	c.(1000-1002)aaT>aaC	p.N334N		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	334					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CTTCCCTCTGATTATCTGCAG	0.597																																						ENST00000307522.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1000-1002)aaT>aaC		coiled-coil domain containing 8							94	100	98					19																	46915066		2203	4300	6503	SO:0001819	synonymous_variant	83987					plasma membrane		g.chr19:46915066A>G	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25367	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 20"	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.1002T>C	19.37:g.46915066A>G							p.N334N	NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	1775	-			334					Q8TB26	Silent	SNP	ENST00000307522.3	37	c.1002T>C	CCDS12685.1	.	.	.	.	.	.	.	.	.	.	A	5.110	0.205958	0.09704	.	.	ENSG00000169515	ENST00000540252	.	.	.	4.3	-8.59	0.00893	.	.	.	.	.	T	0.18509	0.0444	.	.	.	0.21147	N	0.999776	.	.	.	.	.	.	T	0.28004	-1.0057	5	0.22706	T	0.39	-0.1737	6.133	0.20215	0.5746:0.0:0.2521:0.1734	.	.	.	.	T	181	.	ENSP00000441180:I181T	I	-	2	0	CCDC8	51606906	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.996000	0.01471	-1.077000	0.03121	-2.151000	0.00333	ATC		0.597	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		5	159	0	0	0	1	0	5	159					G	46915066	A	G	46915066	2	3	423	1	0	0	0	0	0	0	0	1	2853	330	12	3		3	CCDC8	19	46915066	Silent	SNP	A	TCGA-FK-A4UB-01A-11D-A257-08		46915066	12213917	10	8678											
PRR12	57479	broad.mit.edu	37	chr19	50098775	50098775	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtacaagacgggcaaaggtGgttatggagcagctgccggg	18	7	0	1			TCGA-FK-A4UB-01A-11D-A257-08	TCGA-FK-A4UB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27a87b73-18e7-4a46-919a-b8d2c61b7e68	ec0b1542-f2d7-40f1-8adb-c3d1e579be03	g.chr19:50098775G>T	ENST00000418929.2	+	4	1195	c.1183G>T	c.(1183-1185)Ggt>Tgt	p.G395C		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GGGCAAAGGTGGTTATGGAGC	0.701																																						ENST00000418929.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(1183-1185)Ggt>Tgt		proline rich 12							8	8	8					19																	50098775		1776	3947	5723	SO:0001583	missense	57479						DNA binding	g.chr19:50098775G>T	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.1183G>T	19.37:g.50098775G>T	ENSP00000394510:p.Gly395Cys						p.G395C	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	1195	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	135			Pro-rich.		E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	c.1183G>T	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	G	8.767	0.924901	0.18056	.	.	ENSG00000126464	ENST00000418929	.	.	.	3.58	3.58	0.41010	.	.	.	.	.	T	0.62877	0.2464	.	.	.	0.27277	N	0.95821	D	0.89917	1.0	D	0.87578	0.998	T	0.51244	-0.8730	7	0.38643	T	0.18	.	10.8868	0.46972	0.0:0.0:1.0:0.0	.	395	Q9ULL5-3	.	C	395	.	ENSP00000394510:G395C	G	+	1	0	PRR12	54790587	0.926000	0.31397	0.990000	0.47175	0.928000	0.56348	3.990000	0.56965	2.024000	0.59613	0.455000	0.32223	GGT		0.701	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		3	9	1	0	6.4e-05	1	6.93333e-05	3	9					T	50098775	G	T	50098775	3	4	423	1	0	0	0	0	1	0	0	0	12584	1348	47	4	1197	4	PRR12	19	50098775	Missense_Mutation	SNP	G	TCGA-FK-A4UB-01A-11D-A257-08	3183709	50098775	9030208	11	8679											
PWP2	5822	broad.mit.edu	37	chr21	45542224	45542224	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaagattacagccaagcaCgcggccaaggggaagtgagt	14	9	0	2			TCGA-FK-A4UB-01A-11D-A257-08	TCGA-FK-A4UB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27a87b73-18e7-4a46-919a-b8d2c61b7e68	ec0b1542-f2d7-40f1-8adb-c3d1e579be03	g.chr21:45542224C>T	ENST00000291576.7	+	14	1930	c.1803C>T	c.(1801-1803)caC>caT	p.H601H		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	601					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		CAGCCAAGCACGCGGCCAAGG	0.587																																						ENST00000291576.7																			0				cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21						c.(1801-1803)caC>caT		PWP2 periodic tryptophan protein homolog (yeast)							90	63	72					21																	45542224		2203	4300	6503	SO:0001819	synonymous_variant	5822					cytoplasm|nucleolus	signal transducer activity	g.chr21:45542224C>T		CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"WD repeat domain containing"	9711	protein-coding gene	gene with protein product		601475	"PWP2 (periodic tryptophan protein, yeast) homolog"	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.1803C>T	21.37:g.45542224C>T							p.H601H	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN		STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)	14	1930	+			601					B2RAG8|Q96A77	Silent	SNP	ENST00000291576.7	37	c.1803C>T	CCDS33579.1																																																																																				0.587	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195736.3	NM_005049		18	25	0	0	0	1	0	18	25					T	45542224	C	T	45542224	2	4	423	1	0	0	0	0	0	0	0	1	12844	535	19	1		1	PWP2	21	45542224	Silent	SNP	C	TCGA-FK-A4UB-01A-11D-A257-08		45542224	2587671	12	8680											
FBXO7	25793	broad.mit.edu	37	chr22	32889228	32889228	+	Frame_Shift_Del	DEL	C	C	-													ctctttactgcttcaaatgaCccactcctgtggaggttttt							TCGA-FK-A4UB-01A-11D-A257-08	TCGA-FK-A4UB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27a87b73-18e7-4a46-919a-b8d2c61b7e68	ec0b1542-f2d7-40f1-8adb-c3d1e579be03	g.chr22:32889228delC	ENST00000266087.7	+	7	1431	c.1104delC	c.(1102-1104)gacfs	p.D368fs	FBXO7_ENST00000397426.1_Frame_Shift_Del_p.D254fs|FBXO7_ENST00000382058.3_Frame_Shift_Del_p.D289fs	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	368	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTTCAAATGACCCACTCCTGT	0.438																																						ENST00000266087.7																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1102-1104)gafs		F-box protein 7							227	192	204					22																	32889228		2203	4300	6503	SO:0001589	frameshift_variant	25793				cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr22:32889228delC	AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"F-boxes /  "other"", "Parkinson disease"	13586	protein-coding gene	gene with protein product		605648	"F-box only protein 7"			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.1104delC	22.37:g.32889228delC	ENSP00000266087:p.Asp368fs					FBXO7_ENST00000382058.3_Frame_Shift_Del_p.D289fs|FBXO7_ENST00000397426.1_Frame_Shift_Del_p.D254fs	p.D368fs	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN			7	1431	+			368			F-box.		B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Frame_Shift_Del	DEL	ENST00000266087.7	37	c.1104delC	CCDS13907.1																																																																																				0.438	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1			23	52						23	52	---	---	---	---	-	32889228	C	-	32889228	7	5	423	1	0	1	0	1	0	0	0	0	5760	506	18	0	1171	0	FBXO7	22	32889228	Frame_Shift_Del	DEL	C	TCGA-FK-A4UB-01A-11D-A257-08		32889228	18415338	13	8681											
STK38	11329	broad.mit.edu	37	chr6	36475299	36475299	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatcactggggaggctgtgGttcagattcctataaaattc	10	7	2	1			TCGA-FY-A2QD-01A-11D-A19J-08	TCGA-FY-A2QD-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7335a24-e5fc-4558-9eba-511c5a802320	7aeb39cd-79b5-4b8b-b801-9ea170d402c5	g.chr6:36475299G>A	ENST00000229812.7	-	8	1035	c.750C>T	c.(748-750)aaC>aaT	p.N250N	Z85986.1_ENST00000583113.1_RNA	NM_007271.2	NP_009202.1			serine/threonine kinase 38											NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGAGGCTGTGGTTCAGATTCC	0.418																																					Colon(180;997 3561 16158)	ENST00000229812.7																			0				NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(748-750)aaC>aaT		serine/threonine kinase 38							288	303	298					6																	36475299		2203	4300	6503	SO:0001819	synonymous_variant	11329				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity	g.chr6:36475299G>A		CCDS4822.1	6p21	2006-10-06			ENSG00000112079	ENSG00000112079			17847	protein-coding gene	gene with protein product		606964				7761441	Standard	NM_007271		Approved	NDR	uc003omh.3	Q15208	OTTHUMG00000014598	ENST00000229812.7:c.750C>T	6.37:g.36475299G>A							p.N250N	NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN			8	1035	-			250			Protein kinase.			Silent	SNP	ENST00000229812.7	37	c.750C>T	CCDS4822.1																																																																																				0.418	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040346.1	NM_007271		114	171	0	0	0	0.139131	0	114	171					A	36475299	G	A	36475299	2	1	424	1	0	0	0	0	0	0	0	1	15302	1252	44	2		2	STK38	6	36475299	Silent	SNP	G	TCGA-FY-A2QD-01A-11D-A19J-08		36475299	134639768	1	8682											
DLGAP2	9228	broad.mit.edu	37	chr8	1649537	1649537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgagcgcgcggacagcatcGagatctacatccccgaggcc	12	16	1	1			TCGA-FY-A2QD-01A-11D-A19J-08	TCGA-FY-A2QD-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7335a24-e5fc-4558-9eba-511c5a802320	7aeb39cd-79b5-4b8b-b801-9ea170d402c5	g.chr8:1649537G>A	ENST00000421627.2	+	12	3027	c.2893G>A	c.(2893-2895)Gag>Aag	p.E965K		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	1044					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)		p.E973K(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GGACAGCATCGAGATCTACAT	0.716																																						ENST00000421627.2																			1	Substitution - Missense(1)	p.E973K(1)	NS(1)	breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(2893-2895)Gag>Aag		discs, large (Drosophila) homolog-associated protein 2							12	16	14					8																	1649537		2191	4295	6486	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1649537G>A	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"discs, large (Drosophila) homolog-associated protein 2"			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2893G>A	8.37:g.1649537G>A	ENSP00000400258:p.Glu965Lys						p.E965K	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	12	3027	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	1044					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.2893G>A	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	G	37	6.346695	0.97494	.	.	ENSG00000198010	ENST00000356067;ENST00000421627	T	0.21734	1.99	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.55097	0.1899	M	0.86864	2.845	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.62300	-0.6883	10	0.87932	D	0	-19.4228	19.3914	0.94584	0.0:0.0:1.0:0.0	.	1030;1044	Q9P1A6-2;Q9P1A6	.;DLGP2_HUMAN	K	996;965	ENSP00000400258:E965K	ENSP00000348366:E996K	E	+	1	0	DLGAP2	1636944	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.302000	0.96175	2.587000	0.87381	0.491000	0.48974	GAG		0.716	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		4	4	0	0	0	0.014758	0	4	4					A	1649537	G	A	1649537	3	1	424	1	0	0	0	0	1	0	0	0	4560	1059	37	1	2935	1	DLGAP2	8	1649537	Missense_Mutation	SNP	G	TCGA-FY-A2QD-01A-11D-A19J-08		1649537	144714485	2	8683											
HPS1	3257	broad.mit.edu	37	chr10	100189586	100189586	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccagttgggcccgtggagtGagggctccaggcctgctgca	16	13	0	1			TCGA-FY-A2QD-01A-11D-A19J-08	TCGA-FY-A2QD-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7335a24-e5fc-4558-9eba-511c5a802320	7aeb39cd-79b5-4b8b-b801-9ea170d402c5	g.chr10:100189586G>A	ENST00000325103.6	-	9	1062	c.829C>T	c.(829-831)Cac>Tac	p.H277Y	MIR4685_ENST00000578185.1_RNA|HPS1_ENST00000338546.5_Missense_Mutation_p.H277Y|HPS1_ENST00000361490.4_Missense_Mutation_p.H277Y|HPS1_ENST00000467246.1_Intron	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	277					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CCCGTGGAGTGAGGGCTCCAG	0.677									Hermansky-Pudlak syndrome																													ENST00000325103.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(829-831)Cac>Tac		Hermansky-Pudlak syndrome 1							78	82	81					10																	100189586		2203	4300	6503	SO:0001583	missense	3257	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity	g.chr10:100189586G>A	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"Hermansky-Pudlak syndrome"	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.829C>T	10.37:g.100189586G>A	ENSP00000326649:p.His277Tyr					HPS1_ENST00000338546.5_Missense_Mutation_p.H277Y|HPS1_ENST00000467246.1_Intron|HPS1_ENST00000361490.4_Missense_Mutation_p.H277Y	p.H277Y	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)	9	1062	-		Colorectal(252;0.234)	277					A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Missense_Mutation	SNP	ENST00000325103.6	37	c.829C>T	CCDS7475.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.927202	0.34002	.	.	ENSG00000107521	ENST00000325103;ENST00000361490;ENST00000338546	T;T;T	0.42513	1.57;1.57;0.97	5.0	-10.0	0.00425	.	3.210380	0.00714	N	0.000853	T	0.28632	0.0709	L	0.36672	1.1	0.09310	N	1	P;P;P	0.39376	0.482;0.666;0.67	B;B;B	0.37833	0.259;0.162;0.245	T	0.43245	-0.9403	10	0.54805	T	0.06	.	6.0983	0.20033	0.2265:0.5309:0.0924:0.1502	.	277;277;277	Q92902;Q92902-3;D3DR62	HPS1_HUMAN;.;.	Y	277	ENSP00000326649:H277Y;ENSP00000355310:H277Y;ENSP00000343638:H277Y	ENSP00000326649:H277Y	H	-	1	0	HPS1	100179576	0.000000	0.05858	0.000000	0.03702	0.130000	0.20726	-1.766000	0.01797	-3.014000	0.00272	0.561000	0.74099	CAC		0.677	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	NM_000195, NM_182637, NM_182638, NM_182639		7	90	0	0	0	0.047766	0	7	90					A	100189586	G	A	100189586	3	1	424	1	0	0	0	0	1	0	0	0	7339	1290	45	2	1359	2	HPS1	10	100189586	Missense_Mutation	SNP	G	TCGA-FY-A2QD-01A-11D-A19J-08		100189586	35345161	3	8684											
PLEKHA7	144100	broad.mit.edu	37	chr11	16810715	16810715	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgtcctctccccttggccCagtgtcctcttgcgctctcg	8	20	3	0			TCGA-FY-A2QD-01A-11D-A19J-08	TCGA-FY-A2QD-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7335a24-e5fc-4558-9eba-511c5a802320	7aeb39cd-79b5-4b8b-b801-9ea170d402c5	g.chr11:16810715C>T	ENST00000355661.3	-	23	3295	c.3285G>A	c.(3283-3285)ctG>ctA	p.L1095L	PLEKHA7_ENST00000332954.4_5'UTR|PLEKHA7_ENST00000532079.1_3'UTR|PLEKHA7_ENST00000531066.1_Silent_p.L1095L|PLEKHA7_ENST00000448080.2_Silent_p.L1096L			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	1095					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						CCCCTTGGCCCAGTGTCCTCT	0.647																																						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.(3283-3285)ctG>ctA		pleckstrin homology domain containing, family A member 7							84	70	75					11																	16810715		2200	4294	6494	SO:0001819	synonymous_variant	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16810715C>T	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.3285G>A	11.37:g.16810715C>T						PLEKHA7_ENST00000532079.1_3'UTR|PLEKHA7_ENST00000448080.2_Silent_p.L1096L|PLEKHA7_ENST00000531066.1_Silent_p.L1095L|PLEKHA7_ENST00000332954.4_5'UTR	p.L1095L			Q6IQ23	PKHA7_HUMAN			23	3295	-			1095					B4DK33|B4DWC3|Q86VZ7	Silent	SNP	ENST00000355661.3	37	c.3285G>A	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	C	9.744	1.165748	0.21538	.	.	ENSG00000166689	ENST00000530489	.	.	.	5.81	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-17.6521	11.5382	0.50651	0.1533:0.6905:0.1562:0.0	.	.	.	.	X	727	.	.	W	-	2	0	PLEKHA7	16767291	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.084000	0.50143	0.768000	0.33290	0.655000	0.94253	TGG		0.647	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		3	47	0	0	0	0.115264	0	3	47					T	16810715	C	T	16810715	2	4	424	1	0	0	0	0	0	0	0	1	12061	581	21	2		2	PLEKHA7	11	16810715	Silent	SNP	C	TCGA-FY-A2QD-01A-11D-A19J-08		16810715	118195801	4	8685											
SLCO1B3	28234	broad.mit.edu	37	chr12	21028307	21028307	+	Frame_Shift_Del	DEL	A	A	-													tccaaataaaccacaaaaagAaagaaaaatttcactatcat							TCGA-FY-A2QD-01A-11D-A19J-08	TCGA-FY-A2QD-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7335a24-e5fc-4558-9eba-511c5a802320	7aeb39cd-79b5-4b8b-b801-9ea170d402c5	g.chr12:21028307delA	ENST00000381545.3	+	9	1085	c.866delA	c.(865-867)gaafs	p.E289fs	SLCO1B3_ENST00000553473.1_Frame_Shift_Del_p.E289fs|LST3_ENST00000540229.1_Frame_Shift_Del_p.E289fs|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Frame_Shift_Del_p.E289fs|LST3_ENST00000381541.3_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	289					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	CCACAAAAAGAAAGAAAAATT	0.333																																						ENST00000381545.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(865-867)gafs		solute carrier organic anion transporter family, member 1B3							86	84	85					12																	21028307		2203	4300	6503	SO:0001589	frameshift_variant	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21028307delA		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"Solute carriers"	10961	protein-coding gene	gene with protein product		605495	"solute carrier family 21 (organic anion transporter), member 8"	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.866delA	12.37:g.21028307delA	ENSP00000370956:p.Glu289fs					LST3_ENST00000540229.1_Frame_Shift_Del_p.E289fs|SLCO1B3_ENST00000553473.1_Frame_Shift_Del_p.E289fs|SLCO1B3_ENST00000261196.2_Frame_Shift_Del_p.E289fs|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron	p.E289fs	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN			9	1085	+	Esophageal squamous(101;0.149)		289					E7EMT8|Q5JAR4	Frame_Shift_Del	DEL	ENST00000381545.3	37	c.866delA	CCDS8684.1																																																																																				0.333	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		19	46						19	46	---	---	---	---	-	21028307	A	-	21028307	7	5	424	1	0	1	0	1	0	0	0	0	14724	246	9	0	892	0	SLCO1B3	12	21028307	Frame_Shift_Del	DEL	A	TCGA-FY-A2QD-01A-11D-A19J-08		21028307	112823588	5	8686											
SLC23A2	9962	broad.mit.edu	37	chr20	4839991	4839991	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccctacaaacatagcagttGtgagaaggacgttcaacact	8	11	1	1			TCGA-FY-A2QD-01A-11D-A19J-08	TCGA-FY-A2QD-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7335a24-e5fc-4558-9eba-511c5a802320	7aeb39cd-79b5-4b8b-b801-9ea170d402c5	g.chr20:4839991G>T	ENST00000379333.1	-	16	2056	c.1664C>A	c.(1663-1665)aCa>aAa	p.T555K	SLC23A2_ENST00000338244.1_Missense_Mutation_p.T555K|SLC23A2_ENST00000424750.2_Missense_Mutation_p.T441K	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	555					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CATAGCAGTTGTGAGAAGGAC	0.433																																						ENST00000379333.1																			0				endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(1663-1665)aCa>aAa		solute carrier family 23 (ascorbic acid transporter), member 2							175	156	162					20																	4839991		2203	4300	6503	SO:0001583	missense	9962				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	g.chr20:4839991G>T	AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"Solute carriers"	10973	protein-coding gene	gene with protein product		603791	"solute carrier family 23 (nucleobase transporters), member 1"	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.1664C>A	20.37:g.4839991G>T	ENSP00000368637:p.Thr555Lys					SLC23A2_ENST00000424750.2_Missense_Mutation_p.T441K|SLC23A2_ENST00000338244.1_Missense_Mutation_p.T555K	p.T555K	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN			16	2056	-			555					B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Missense_Mutation	SNP	ENST00000379333.1	37	c.1664C>A	CCDS13085.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598389	0.66332	.	.	ENSG00000089057	ENST00000379333;ENST00000338244;ENST00000424750	T;T;T	0.18174	2.23;2.23;2.27	5.08	5.08	0.68730	.	0.092067	0.85682	D	0.000000	T	0.32645	0.0836	L	0.39633	1.23	0.80722	D	1	D;D	0.69078	0.981;0.997	D;P	0.69824	0.966;0.907	T	0.00514	-1.1695	10	0.33141	T	0.24	-20.3644	17.5691	0.87930	0.0:0.0:1.0:0.0	.	441;555	B4DJZ1;Q9UGH3	.;S23A2_HUMAN	K	555;555;441	ENSP00000368637:T555K;ENSP00000344322:T555K;ENSP00000406601:T441K	ENSP00000344322:T555K	T	-	2	0	SLC23A2	4787991	1.000000	0.71417	0.997000	0.53966	0.889000	0.51656	9.100000	0.94213	2.813000	0.96785	0.655000	0.94253	ACA		0.433	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1			36	85	1	0	1.57019e-19	0.09836	4.31803e-19	36	85					T	4839991	G	T	4839991	3	4	424	1	0	0	0	0	1	0	0	0	14463	1377	48	4	296	4	SLC23A2	20	4839991	Missense_Mutation	SNP	G	TCGA-FY-A2QD-01A-11D-A19J-08		4839991	58185529	6	8687											
ESX1	80712	broad.mit.edu	37	chrX	103498972	103498972	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggtttgtggcccctccgcCggctgtggcccctccacggt	14	17	0	0			TCGA-FY-A2QD-01A-11D-A19J-08	TCGA-FY-A2QD-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7335a24-e5fc-4558-9eba-511c5a802320	7aeb39cd-79b5-4b8b-b801-9ea170d402c5	g.chrX:103498972C>T	ENST00000372588.4	-	2	452	c.369G>A	c.(367-369)ccG>ccA	p.P123P		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	123					labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	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)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GCCCCTCCGCCGGCTGTGGCC	0.682																																					Pancreas(200;1705 2227 25194 28471 45274)	ENST00000372588.4																			0				endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						c.(367-369)ccG>ccA		ESX homeobox 1							25	27	26					X																	103498972		2196	4290	6486	SO:0001819	synonymous_variant	80712				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:103498972C>T	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"Homeoboxes / PRD class"	14865	protein-coding gene	gene with protein product		300154	"extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.369G>A	X.37:g.103498972C>T							p.P123P	NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN			2	452	-			123					B0QYU3|Q7Z6K7	Silent	SNP	ENST00000372588.4	37	c.369G>A	CCDS14516.1																																																																																				0.682	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448		8	50	0	0	0	0.038147	0	8	50					T	103498972	C	T	103498972	2	4	424	1	0	0	0	0	0	0	0	1	5263	639	23	1		1	ESX1	23	103498972	Silent	SNP	C	TCGA-FY-A2QD-01A-11D-A19J-08		103498972	51771588	7	8688											
MECP2	4204	broad.mit.edu	37	chrX	153296900	153296900	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgaaaggcttttccctgggGactgtggggacaaacagaaa	14	8	0	1	rs267608466		TCGA-FY-A2QD-01A-11D-A19J-08	TCGA-FY-A2QD-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7335a24-e5fc-4558-9eba-511c5a802320	7aeb39cd-79b5-4b8b-b801-9ea170d402c5	g.chrX:153296900G>A	ENST00000303391.6	-	4	628	c.379C>T	c.(379-381)Ccc>Tcc	p.P127S	MECP2_ENST00000453960.2_Splice_Site_p.P139S|MECP2_ENST00000407218.1_Splice_Site_p.P127S|MECP2_ENST00000460227.1_5'Flank	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	127	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCCTGGGGACTGTGGGGA	0.488																																						ENST00000303391.6																			0				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23						c.e4-1		methyl CpG binding protein 2 (Rett syndrome)							70	69	70					X																	153296900		2203	4300	6503	SO:0001630	splice_region_variant	4204				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity	g.chrX:153296900G>A	AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"mental retardation, X-linked 16", "mental retardation, X-linked 79", "Rett syndrome", "methyl CpG binding protein 2 (Rett syndrome)"	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.378-1C>T	X.37:g.153296900G>A						MECP2_ENST00000453960.2_Splice_Site_p.P139_splice|MECP2_ENST00000407218.1_Splice_Site_p.P127_splice	p.P127_splice	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN			4	628	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		127			MBD.		O15233|Q6QHH9|Q7Z384	Splice_Site	SNP	ENST00000303391.6	37	c.377_splice	CCDS14741.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.807971	0.50421	.	.	ENSG00000169057	ENST00000303391;ENST00000545451;ENST00000453960;ENST00000369964;ENST00000407218	D;D;D	0.99980	-10.21;-10.21;-10.21	5.24	5.24	0.73138	Methyl-CpG DNA binding (4);DNA-binding, integrase-type (1);	0.055461	0.64402	D	0.000001	D	0.99966	0.9987	M	0.84948	2.725	0.80722	D	1	B;B	0.33694	0.368;0.421	B;P	0.44897	0.333;0.463	D	0.89826	0.3992	10	0.48119	T	0.1	-15.7176	16.5773	0.84705	0.0:0.0:1.0:0.0	.	139;127	P51608-2;P51608	.;MECP2_HUMAN	S	127;127;139;127;127	ENSP00000301948:P127S;ENSP00000395535:P139S;ENSP00000384865:P127S	ENSP00000301948:P127S	P	-	1	0	MECP2	152950094	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.103000	0.77014	2.172000	0.68678	0.600000	0.82982	CCC		0.488	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	NM_004992	Missense_Mutation	8	73	0	0	0	0.038147	0	8	73					A	153296900	G	A	153296900	5	1	424	1	0	0	0	0	0	0	1	0	9423	1188	41	2	1085	2	MECP2	23	153296900	Splice_Site	SNP	G	TCGA-FY-A2QD-01A-11D-A19J-08	49797928	153296900	1973660	8	8689											
MAML3	55534	broad.mit.edu	37	chr4	140811108	140811108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgctgctgctgttgctg	14	12	0	0			TCGA-FY-A3BL-01A-11D-A19J-08	TCGA-FY-A3BL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	effadd42-bbb3-4ec9-bcd4-80d9e2d09a8d	a8cbca5d-503d-4484-928b-ae5d9a9726a3	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000398940.1_Silent_p.Q33Q|MAML3_ENST00000327122.5_Silent_p.Q338Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1480-1482)caG>caA		mastermind-like 3 (Drosophila)							14	19	17					4																	140811108		2165	4272	6437	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811108C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1482G>A	4.37:g.140811108C>T						MAML3_ENST00000398940.1_Silent_p.Q33Q|MAML3_ENST00000327122.5_Silent_p.Q338Q	p.Q494Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2338	-	all_hematologic(180;0.162)		494			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1482G>A	CCDS54805.1																																																																																				0.537	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			3	28	0	0	0	6.4e-05	0	3	28					T	140811108	C	T	140811108	2	4	425	1	0	0	0	0	0	0	0	1	9207	796	28	2		2	MAML3	4	140811108	Silent	SNP	C	TCGA-FY-A3BL-01A-11D-A19J-08		140811108	50343168	1	8690											
RXFP1	59350	broad.mit.edu	37	chr4	159568291	159568291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccaatggagtatgcttccCtcttcattcagaagatacag	7	11	3	2			TCGA-FY-A3BL-01A-11D-A19J-08	TCGA-FY-A3BL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	effadd42-bbb3-4ec9-bcd4-80d9e2d09a8d	a8cbca5d-503d-4484-928b-ae5d9a9726a3	g.chr4:159568291C>T	ENST00000307765.5	+	16	1945	c.1694C>T	c.(1693-1695)cCt>cTt	p.P565L	RXFP1_ENST00000470033.1_Missense_Mutation_p.P532L|RXFP1_ENST00000460056.2_Missense_Mutation_p.P484L|RXFP1_ENST00000343542.5_Missense_Mutation_p.P517L|RXFP1_ENST00000448688.2_Missense_Mutation_p.P460L	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	565					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GTATGCTTCCCTCTTCATTCA	0.333																																						ENST00000307765.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49						c.(1693-1695)cCt>cTt		relaxin/insulin-like family peptide receptor 1							70	66	67					4																	159568291		1825	4081	5906	SO:0001583	missense	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159568291C>T	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"GPCR / Class A : Relaxin family peptide receptors"	19718	protein-coding gene	gene with protein product		606654	"leucine-rich repeat-containing G protein-coupled receptor 7"	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.1694C>T	4.37:g.159568291C>T	ENSP00000303248:p.Pro565Leu					RXFP1_ENST00000343542.5_Missense_Mutation_p.P517L|RXFP1_ENST00000460056.2_Missense_Mutation_p.P484L|RXFP1_ENST00000470033.1_Missense_Mutation_p.P532L|RXFP1_ENST00000448688.2_Missense_Mutation_p.P460L	p.P565L	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	16	1945	+	all_hematologic(180;0.24)	Renal(120;0.0854)	565					B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	ENST00000307765.5	37	c.1694C>T	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159348	0.94686	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32	5.74	5.74	0.90152	GPCR, rhodopsin-like superfamily (1);	0.048227	0.85682	D	0.000000	T	0.72078	0.3416	M	0.93638	3.44	0.80722	D	1	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	1.0;1.0;1.0;0.999;1.0;0.999;1.0;1.0	T	0.79235	-0.1887	10	0.87932	D	0	.	19.9326	0.97124	0.0:1.0:0.0:0.0	.	576;592;460;517;532;484;435;565	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;E9PCA3;Q59H16;Q9HBX9	.;.;.;.;.;.;.;RXFP1_HUMAN	L	484;565;460;517;532;435	ENSP00000423306:P484L;ENSP00000303248:P565L;ENSP00000414885:P460L;ENSP00000345889:P517L;ENSP00000420712:P532L	ENSP00000303248:P565L	P	+	2	0	RXFP1	159787741	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.747000	0.85070	2.720000	0.93068	0.650000	0.86243	CCT		0.333	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		30	36	0	0	0	0.00106085	0	30	36					T	159568291	C	T	159568291	3	4	425	1	0	0	0	0	1	0	0	0	13759	681	24	2	1756	2	RXFP1	4	159568291	Missense_Mutation	SNP	C	TCGA-FY-A3BL-01A-11D-A19J-08	18757183	159568291	31585985	2	8691											
ZNF192	7745	broad.mit.edu	37	chr6	28116601	28116601	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gattgatatactaggacgacCagtaagtagaaggaggtatg	13	4	0	2			TCGA-FY-A3BL-01A-11D-A19J-08	TCGA-FY-A3BL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	effadd42-bbb3-4ec9-bcd4-80d9e2d09a8d	a8cbca5d-503d-4484-928b-ae5d9a9726a3	g.chr6:28116601C>A	ENST00000330236.6	+	2	600	c.416C>A	c.(415-417)cCa>cAa	p.P139Q	ZKSCAN8_ENST00000457389.2_Splice_Site_p.P139Q	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2	Q15776	ZKSC8_HUMAN	zinc finger with KRAB and SCAN domains 8	139					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)										CTAGGACGACCAGTAAGTAGA	0.498																																						ENST00000330236.6																			0											c.e2+1		zinc finger with KRAB and SCAN domains 8							53	44	47					6																	28116601		2203	4299	6502	SO:0001630	splice_region_variant	0							g.chr6:28116601C>A		CCDS4645.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000198315	ENSG00000198315		"Zinc fingers, C2H2-type", "-", "-", "-"	12983	protein-coding gene	gene with protein product		602240	"zinc finger protein 192"	ZNF192			Standard	NM_001278119		Approved	LD5-1, ZSCAN40	uc003nkn.2	Q15776	OTTHUMG00000014510	ENST00000330236.6:c.417+1C>A	6.37:g.28116601C>A						ZKSCAN8_ENST00000457389.2_Splice_Site_p.P139_splice	p.P139_splice	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2					2	600	+								A1L3D4|B4DYF1|Q4VAR1|Q4VAR2|Q4VAR3|Q9H4T1	Splice_Site	SNP	ENST00000330236.6	37	c.417_splice	CCDS4645.1	.	.	.	.	.	.	.	.	.	.	C	4.650	0.120758	0.08881	.	.	ENSG00000198315	ENST00000330236;ENST00000457389;ENST00000536028	T;T;T	0.04970	3.52;3.52;4.08	5.02	3.03	0.35002	Transcription regulator SCAN (1);	0.281447	0.25813	N	0.028134	T	0.00440	0.0014	N	0.00094	-2.165	0.36148	D	0.847252	P	0.38300	0.626	B	0.40410	0.328	T	0.28202	-1.0051	10	0.02654	T	1	.	10.2029	0.43097	0.4599:0.5401:0.0:0.0	.	139	Q15776	ZN192_HUMAN	Q	139	ENSP00000332750:P139Q;ENSP00000402948:P139Q;ENSP00000439117:P139Q	ENSP00000332750:P139Q	P	+	2	0	ZNF192	28224580	0.789000	0.28775	0.998000	0.56505	0.989000	0.77384	0.499000	0.22546	1.388000	0.46506	0.563000	0.77884	CCA		0.498	ZKSCAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040178.2		Missense_Mutation	5	43	1	0	0.000602214	0.000602214	0.00882067	5	43					A	28116601	C	A	28116601	5	1	425	1	0	0	0	0	0	0	1	0	17753	608	21	4	418	4	ZNF192	6	28116601	Splice_Site	SNP	C	TCGA-FY-A3BL-01A-11D-A19J-08		28116601	142998466	3	8692											
TBCC	6903	broad.mit.edu	37	chr6	42713803	42713803	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcagcggagcaactgacGgactccatattggcttcaag	12	11	1	1	rs537953279		TCGA-FY-A3BL-01A-11D-A19J-08	TCGA-FY-A3BL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	effadd42-bbb3-4ec9-bcd4-80d9e2d09a8d	a8cbca5d-503d-4484-928b-ae5d9a9726a3	g.chr6:42713803G>A	ENST00000372876.1	-	1	31	c.9C>T	c.(7-9)tcC>tcT	p.S3S	TBCC_ENST00000244625.2_Silent_p.S3S	NM_003192.2	NP_003183	Q15814	TBCC_HUMAN	tubulin folding cofactor C	3					'de novo' posttranslational protein folding (GO:0051084)|cell morphogenesis (GO:0000902)|cellular protein metabolic process (GO:0044267)|GTP catabolic process (GO:0006184)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)	chaperone binding (GO:0051087)|GTPase activity (GO:0003924)	p.S3S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			AGCAACTGACGGACTCCATAT	0.617													G|||	1	0.000199681	0	0	5008	,	,		12523	0		0.001	False		,,,				2504	0					ENST00000244625.2																			1	Substitution - coding silent(1)	p.S3S(1)	kidney(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14						c.(7-9)tcC>tcT		tubulin folding cofactor C							41	42	41					6																	42713803		2202	4299	6501	SO:0001819	synonymous_variant	6903				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity	g.chr6:42713803G>A	U61234	CCDS4872.1	6p21.1	2008-02-05	2006-11-21		ENSG00000124659	ENSG00000124659			11580	protein-coding gene	gene with protein product		602971	"tubulin-specific chaperone c"			8706133, 11847227	Standard	NM_003192		Approved	CFC	uc003osl.3	Q15814	OTTHUMG00000014704	ENST00000372876.1:c.9C>T	6.37:g.42713803G>A						TBCC_ENST00000372876.1_Silent_p.S3S	p.S3S			Q15814	TBCC_HUMAN	all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)		2	572	-	Colorectal(47;0.196)		3					Q53Y43|Q5T787	Silent	SNP	ENST00000372876.1	37	c.9C>T	CCDS4872.1																																																																																				0.617	TBCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040559.1	NM_003192		6	52	0	0	0	0.00307968	0	6	52					A	42713803	G	A	42713803	2	1	425	1	0	0	0	0	0	0	0	1	15628	1103	39	1		1	TBCC	6	42713803	Silent	SNP	G	TCGA-FY-A3BL-01A-11D-A19J-08	14597202	42713803	128401264	4	8693											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FY-A3BL-01A-11D-A19J-08	TCGA-FY-A3BL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	effadd42-bbb3-4ec9-bcd4-80d9e2d09a8d	a8cbca5d-503d-4484-928b-ae5d9a9726a3	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		29	38	0	0	0	0.00178596	0	29	38					T	140453136	A	T	140453136	3	4	425	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FY-A3BL-01A-11D-A19J-08		140453136	18685527	5	8694											
ZW10	9183	broad.mit.edu	37	chr11	113644351	113644351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcctccttttccagcctcCcggagtgtgccaaaacttct	7	15	1	0			TCGA-FY-A3BL-01A-11D-A19J-08	TCGA-FY-A3BL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	effadd42-bbb3-4ec9-bcd4-80d9e2d09a8d	a8cbca5d-503d-4484-928b-ae5d9a9726a3	g.chr11:113644351C>T	ENST00000200135.3	-	1	182	c.38G>A	c.(37-39)gGg>gAg	p.G13E	RP11-667M19.2_ENST00000543486.1_RNA	NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	13	Interaction with RINT1.|Interaction with ZWINT.				ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TTCCAGCCTCCCGGAGTGTGC	0.642																																						ENST00000200135.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18						c.(37-39)gGg>gAg		zw10 kinetochore protein							61	63	62					11																	113644351		2201	4296	6497	SO:0001583	missense	9183				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding	g.chr11:113644351C>T	U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"ZW10 (Drosophila) homolog, centromere/kinetochore protein", "ZW10, kinetochore associated, homolog (Drosophila)"			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.38G>A	11.37:g.113644351C>T	ENSP00000200135:p.Gly13Glu						p.G13E	NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)	1	182	-		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)	13			Interaction with RINT1.|Interaction with ZWINT.		A1A528	Missense_Mutation	SNP	ENST00000200135.3	37	c.38G>A	CCDS8363.1	.	.	.	.	.	.	.	.	.	.	C	33	5.224134	0.95139	.	.	ENSG00000086827	ENST00000200135	T	0.45276	0.9	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.65678	0.2714	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67868	-0.5559	10	0.72032	D	0.01	-16.9764	18.0649	0.89388	0.0:1.0:0.0:0.0	.	13	O43264	ZW10_HUMAN	E	13	ENSP00000200135:G13E	ENSP00000200135:G13E	G	-	2	0	ZW10	113149561	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.032000	0.70918	2.601000	0.87937	0.491000	0.48974	GGG		0.642	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1	NM_004724		23	43	0	0	0	0.000878237	0	23	43					T	113644351	C	T	113644351	3	4	425	1	0	0	0	0	1	0	0	0	18244	623	22	2	2365	2	ZW10	11	113644351	Missense_Mutation	SNP	C	TCGA-FY-A3BL-01A-11D-A19J-08		113644351	21362165	6	8695											
MLL	4297	broad.mit.edu	37	chr11	118375798	118375798	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcccgtctcagatttccaAtgcagctgtccagaccactc	8	15	1	2			TCGA-FY-A3BL-01A-11D-A19J-08	TCGA-FY-A3BL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	effadd42-bbb3-4ec9-bcd4-80d9e2d09a8d	a8cbca5d-503d-4484-928b-ae5d9a9726a3	g.chr11:118375798A>G	ENST00000389506.5	+	27	9182	c.9182A>G	c.(9181-9183)aAt>aGt	p.N3061S	KMT2A_ENST00000534358.1_Missense_Mutation_p.N3064S|KMT2A_ENST00000354520.4_Missense_Mutation_p.N3023S			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3061					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CAGATTTCCAATGCAGCTGTC	0.502																																						ENST00000534358.1																			0											c.(9190-9192)aAt>aGt		lysine (K)-specific methyltransferase 2A							107	102	103					11																	118375798		2200	4295	6495	SO:0001583	missense	4297							g.chr11:118375798A>G	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.9182A>G	11.37:g.118375798A>G	ENSP00000374157:p.Asn3061Ser					KMT2A_ENST00000354520.4_Missense_Mutation_p.N3023S|KMT2A_ENST00000389506.5_Missense_Mutation_p.N3061S	p.N3064S	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					27	9214	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.9191A>G	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	A	6.241	0.412576	0.11812	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	T;T;T	0.81330	-1.48;-1.48;-1.45	6.08	6.08	0.98989	.	0.104961	0.64402	D	0.000001	T	0.63390	0.2507	N	0.19112	0.55	0.37515	D	0.917302	B;B	0.27229	0.172;0.172	B;B	0.16289	0.015;0.015	T	0.62932	-0.6749	10	0.09338	T	0.73	.	10.9084	0.47094	0.9305:0.0:0.0695:0.0	.	3064;3061	E9PQG7;Q03164	.;MLL1_HUMAN	S	3064;3061;3023;1971	ENSP00000436786:N3064S;ENSP00000374157:N3061S;ENSP00000346516:N3023S	ENSP00000346516:N3023S	N	+	2	0	MLL	117881008	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.416000	0.52707	2.333000	0.79357	0.482000	0.46254	AAT		0.502	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		31	126	0	0	0	0.00283554	0	31	126					G	118375798	A	G	118375798	3	3	425	1	0	0	0	0	1	0	0	0	9620	101	4	3	9288	3	MLL	11	118375798	Missense_Mutation	SNP	A	TCGA-FY-A3BL-01A-11D-A19J-08	4731447	118375798	16630718	7	8696											
C12orf66	144577	broad.mit.edu	37	chr12	64615867	64615867	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccgccagcagcgacagccAgctgccccccgcgctcttgt	12	19	1	0			TCGA-FY-A3BL-01A-11D-A19J-08	TCGA-FY-A3BL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	effadd42-bbb3-4ec9-bcd4-80d9e2d09a8d	a8cbca5d-503d-4484-928b-ae5d9a9726a3	g.chr12:64615867A>G	ENST00000398055.3	-	1	204	c.151T>C	c.(151-153)Tgg>Cgg	p.W51R	C12orf66_ENST00000540673.1_5'UTR|C12orf66_ENST00000544871.1_Intron|RPS11P6_ENST00000535684.1_RNA|C12orf66_ENST00000311915.8_Missense_Mutation_p.W51R	NM_152440.4	NP_689653	Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	51										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						AGCGACAGCCAGCTGCCCCCC	0.622																																						ENST00000311915.8																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						c.(151-153)Tgg>Cgg		chromosome 12 open reading frame 66							31	36	34					12																	64615867		1989	4166	6155	SO:0001583	missense	144577							g.chr12:64615867A>G		CCDS41803.1, CCDS73490.1	12q14.2	2008-08-08			ENSG00000174206	ENSG00000174206			26517	protein-coding gene	gene with protein product						12477932	Standard	NM_152440		Approved	FLJ32549	uc001srw.4	Q96MD2	OTTHUMG00000168763	ENST00000398055.3:c.151T>C	12.37:g.64615867A>G	ENSP00000381132:p.Trp51Arg					C12orf66_ENST00000544871.1_Intron|C12orf66_ENST00000398055.3_Missense_Mutation_p.W51R|C12orf66_ENST00000540673.1_5'UTR	p.W51R			Q96MD2	CL066_HUMAN			1	178	-			51					C9JX54|Q8IYA0	Missense_Mutation	SNP	ENST00000398055.3	37	c.151T>C	CCDS41803.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.782308	0.90282	.	.	ENSG00000174206	ENST00000311915;ENST00000398055	T;T	0.44482	0.92;0.92	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.61887	0.2383	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62723	-0.6794	9	.	.	.	-5.796	14.6497	0.68786	1.0:0.0:0.0:0.0	.	51	Q96MD2	CL066_HUMAN	R	51	ENSP00000311486:W51R;ENSP00000381132:W51R	.	W	-	1	0	C12orf66	62902134	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.790000	0.75115	2.044000	0.60594	0.459000	0.35465	TGG		0.622	C12orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400921.1	NM_152440		3	21	0	0	0	6.4e-05	0	3	21					G	64615867	A	G	64615867	3	3	425	1	0	0	0	0	1	0	0	0	1709	188	7	3	1198	3	C12orf66	12	64615867	Missense_Mutation	SNP	A	TCGA-FY-A3BL-01A-11D-A19J-08		64615867	69236028	8	8697											
HGFAC	3083	broad.mit.edu	37	chr4	3443797	3443797	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ggccccttcctcctcctcctCctgctgctgctgctgctgcc	8	21	0	0	rs538844201	byFrequency	TCGA-FY-A3I4-01A-11D-A21A-08	TCGA-FY-A3I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e087d096-3086-4705-a308-75f12f9487eb	a40b24b5-781b-44cf-9d3c-499ddd16136e	g.chr4:3443797C>G	ENST00000382774.3	+	1	184	c.69C>G	c.(67-69)ctC>ctG	p.L23L	HGFAC_ENST00000511533.1_Silent_p.L23L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	23					proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCCTCCTCCTCCTGCTGCTGC	0.716													C|||	2	0.000399361	8e-04	0	5008	,	,		13350	0		0	False		,,,				2504	0.001					ENST00000382774.3																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(67-69)ctC>ctG		HGF activator							13	16	15					4																	3443797		1723	3604	5327	SO:0001819	synonymous_variant	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3443797C>G	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.69C>G	4.37:g.3443797C>G						HGFAC_ENST00000511533.1_Silent_p.L23L	p.L23L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	184	+			23					Q14726|Q2M1W7|Q53X47	Silent	SNP	ENST00000382774.3	37	c.69C>G	CCDS3369.1																																																																																				0.716	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			3	38	0	0	0	0.150653	0	3	38					G	3443797	C	G	3443797	2	3	426	1	0	0	0	0	0	0	0	1	7086	842	30	4		4	HGFAC	4	3443797	Silent	SNP	C	TCGA-FY-A3I4-01A-11D-A21A-08		3443797	187710479	1	8698											
AHRR	57491	broad.mit.edu	37	chr5	353938	353938	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctggccagcctgctgccGttcccgcctgacatcatctc	8	19	2	1	rs150312721	byFrequency	TCGA-FY-A3I4-01A-11D-A21A-08	TCGA-FY-A3I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e087d096-3086-4705-a308-75f12f9487eb	a40b24b5-781b-44cf-9d3c-499ddd16136e	g.chr5:353938G>A	ENST00000505113.1	+	3	212	c.168G>A	c.(166-168)ccG>ccA	p.P56P	AHRR_ENST00000515206.1_Silent_p.P52P|AHRR_ENST00000316418.5_Silent_p.P56P|AHRR_ENST00000512529.1_Intron	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	56	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GCCTGCTGCCGTTCCCGCCTG	0.627													G|||	5	0.000998403	0	0.0014	5008	,	,		19204	0		0.004	False		,,,				2504	0					ENST00000316418.5																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(166-168)ccG>ccA		aryl-hydrocarbon receptor repressor		G	,	7,4259		0,7,2126	92	106	101		168,168	-10.1	0.0	5	dbSNP_134	101	13,8457		0,13,4222	no	coding-synonymous,coding-synonymous	AHRR	NM_001242412.1,NM_020731.4	,	0,20,6348	AA,AG,GG		0.1535,0.1641,0.157	,	56/702,56/720	353938	20,12716	2133	4235	6368	SO:0001819	synonymous_variant	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:353938G>A	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"Basic helix-loop-helix proteins"	346	protein-coding gene	gene with protein product		606517	"aryl hydrocarbon receptor regulator"	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.168G>A	5.37:g.353938G>A						AHRR_ENST00000512529.1_Intron|AHRR_ENST00000515206.1_Silent_p.P52P|AHRR_ENST00000505113.1_Silent_p.P56P	p.P56P	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		3	212	+			56			Helix-loop-helix motif.		A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Silent	SNP	ENST00000505113.1	37	c.168G>A	CCDS56355.1																																																																																				0.627	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		4	117	0	0	0	0.150653	0	4	117					A	353938	G	A	353938	2	1	426	1	0	0	0	0	0	0	0	1	417	1132	40	1		1	AHRR	5	353938	Silent	SNP	G	TCGA-FY-A3I4-01A-11D-A21A-08		353938	180561322	2	8699											
ZNF92	168374	broad.mit.edu	37	chr7	64853813	64853813	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagatggtagacaaaaccccAggtaggtgacagttaataca	11	7	0	3			TCGA-FY-A3I4-01A-11D-A21A-08	TCGA-FY-A3I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e087d096-3086-4705-a308-75f12f9487eb	a40b24b5-781b-44cf-9d3c-499ddd16136e	g.chr7:64853813A>G	ENST00000328747.7	+	3	424	c.225A>G	c.(223-225)ccA>ccG	p.P75P	ZNF92_ENST00000357512.2_Intron|ZNF92_ENST00000431504.1_Intron|ZNF92_ENST00000450302.2_Splice_Site_p.P6P	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	75	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				ACAAAACCCCAGGTAGGTGAC	0.448																																						ENST00000328747.7																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13						c.e3+1		zinc finger protein 92							93	97	96					7																	64853813		2203	4300	6503	SO:0001630	splice_region_variant	168374					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:64853813A>G	M61872	CCDS34646.1, CCDS47596.1, CCDS75608.1, CCDS75609.1	7q11.21	2013-01-08	2006-05-12		ENSG00000146757	ENSG00000146757		"Zinc fingers, C2H2-type", "-"	13168	protein-coding gene	gene with protein product		603974	"zinc finger protein 92 (HTF12)"			8467795	Standard	NM_001287533		Approved	HPF12, TF12	uc003ttz.3	Q03936	OTTHUMG00000156557	ENST00000328747.7:c.226+1A>G	7.37:g.64853813A>G						ZNF92_ENST00000357512.2_Intron|ZNF92_ENST00000431504.1_Intron|ZNF92_ENST00000450302.2_Splice_Site_p.P6_splice	p.P75_splice	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN			3	424	+		Lung NSC(55;0.159)	75			KRAB.		A6NNF9|Q8N492|Q8NB35	Splice_Site	SNP	ENST00000328747.7	37	c.226_splice	CCDS34646.1																																																																																				0.448	ZNF92-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344589.2	NM_152626	Silent	3	73	0	0	0	0.115264	0	3	73					G	64853813	A	G	64853813	5	3	426	1	0	0	0	0	0	0	1	0	18198	202	7	3	235	3	ZNF92	7	64853813	Splice_Site	SNP	A	TCGA-FY-A3I4-01A-11D-A21A-08		64853813	94284850	3	8700											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FY-A3I4-01A-11D-A21A-08	TCGA-FY-A3I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e087d096-3086-4705-a308-75f12f9487eb	a40b24b5-781b-44cf-9d3c-499ddd16136e	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		15	61	0	0	0	0.146539	0	15	61					T	140453136	A	T	140453136	3	4	426	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FY-A3I4-01A-11D-A21A-08	75599323	140453136	18685527	4	8701											
FAM22F	54754	broad.mit.edu	37	chr9	97082748	97082748	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgggtggtggcaggtgggcGttggtctccgctggcctctg	19	10	2	0	rs201613053	byFrequency	TCGA-FY-A3I4-01A-11D-A21A-08	TCGA-FY-A3I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e087d096-3086-4705-a308-75f12f9487eb	a40b24b5-781b-44cf-9d3c-499ddd16136e	g.chr9:97082748G>C	ENST00000253262.4	-	5	1130	c.1110C>G	c.(1108-1110)aaC>aaG	p.N370K	NUTM2F_ENST00000335456.7_Intron|NUTM2F_ENST00000341207.4_Intron	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	370	Pro-rich.																GCAGGTGGGCGTTGGTCTCCG	0.692													.|||	6	0.00119808	0	0.0014	5008	,	,		14263	0.001		0.004	False		,,,				2504	0					ENST00000253262.4																			0											c.(1108-1110)aaC>aaG		NUT family member 2F		C	LYS/ASN	3,4007		0,3,2002	31	40	37		1110	0.1	0.0	9		37	27,8289		0,27,4131	no	missense	FAM22F	NM_017561.1	94	0,30,6133	CC,CG,GG		0.3247,0.0748,0.2434	benign	370/757	97082748	30,12296	2005	4158	6163	SO:0001583	missense	54754							g.chr9:97082748G>C		CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"family with sequence similarity 22, member F"	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.1110C>G	9.37:g.97082748G>C	ENSP00000253262:p.Asn370Lys					NUTM2F_ENST00000341207.4_Intron|NUTM2F_ENST00000335456.7_Intron	p.N370K	NM_017561.1	NP_060031.1					5	1130	-								B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Missense_Mutation	SNP	ENST00000253262.4	37	c.1110C>G	CCDS47994.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.463894	0.00171	7.48E-4	0.003247	ENSG00000130950	ENST00000253262	T	0.10382	2.88	0.1	0.1	0.14510	.	1.449150	0.04340	N	0.353820	T	0.03011	0.0089	N	0.01352	-0.895	0.54753	D	0.999988	B	0.02656	0.0	B	0.01281	0.0	T	0.51474	-0.8701	9	0.02654	T	1	.	.	.	.	.	370	A1L443	FA22F_HUMAN	K	370	ENSP00000253262:N370K	ENSP00000253262:N370K	N	-	3	2	FAM22F	96122569	0.245000	0.23899	0.025000	0.17156	0.024000	0.10985	-1.291000	0.02775	-1.203000	0.02652	-1.201000	0.01664	AAC		0.692	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053173.2	NM_017561		3	88	0	0	0	0.115264	0	3	88					C	97082748	G	C	97082748	3	2	426	1	0	0	0	0	1	0	0	0	5545	1136	40	4	1172	4	FAM22F	9	97082748	Missense_Mutation	SNP	G	TCGA-FY-A3I4-01A-11D-A21A-08		97082748	44130683	5	8702											
NUP214	8021	broad.mit.edu	37	chr9	134072930	134072930	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgattctacaaaaccaaccaAtaaggcttcatccacaagcc	4	13	2	1			TCGA-FY-A3I4-01A-11D-A21A-08	TCGA-FY-A3I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e087d096-3086-4705-a308-75f12f9487eb	a40b24b5-781b-44cf-9d3c-499ddd16136e	g.chr9:134072930A>G	ENST00000359428.5	+	29	4193	c.4049A>G	c.(4048-4050)aAt>aGt	p.N1350S	NUP214_ENST00000451030.1_Missense_Mutation_p.N1351S|NUP214_ENST00000465486.2_3'UTR|NUP214_ENST00000483497.2_Missense_Mutation_p.N176S|NUP214_ENST00000411637.2_Missense_Mutation_p.N1340S			P35658	NU214_HUMAN	nucleoporin 214kDa	1350	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AAACCAACCAATAAGGCTTCA	0.512			T	"DEK, SET, ABL1"	"AML, T-ALL"																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"DEK, SET, ABL1"		"AML, T-ALL"		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(4048-4050)aAt>aGt		nucleoporin 214kDa							114	117	116					9																	134072930		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134072930A>G	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"nuclear pore complex protein Nup214", "CAN protein, putative oncogene"	114350	"nucleoporin 214kD (CAIN)"			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.4049A>G	9.37:g.134072930A>G	ENSP00000352400:p.Asn1350Ser					NUP214_ENST00000483497.2_Missense_Mutation_p.N176S|NUP214_ENST00000465486.2_3'UTR|NUP214_ENST00000451030.1_Missense_Mutation_p.N1351S|NUP214_ENST00000411637.2_Missense_Mutation_p.N1340S	p.N1350S			P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	29	4193	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1350			11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.4049A>G	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	A	0.700	-0.791255	0.02884	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605;ENST00000483497;ENST00000531600;ENST00000541688	T;T;T;T;T	0.38240	1.82;1.81;1.81;1.15;1.25	5.4	2.51	0.30379	.	0.397228	0.21722	N	0.070101	T	0.13927	0.0337	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.09022	0.001;0.002;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001	T	0.29243	-1.0018	10	0.09084	T	0.74	0.0294	4.6677	0.12673	0.1667:0.0:0.5124:0.3209	.	176;779;944;1340;1350	B7ZAV2;F5H131;Q5JUP9;P35658-4;P35658	.;.;.;.;NU214_HUMAN	S	1350;1340;1351;1329;944;779;176;127;127	ENSP00000352400:N1350S;ENSP00000396576:N1340S;ENSP00000405014:N1351S;ENSP00000436793:N176S;ENSP00000435364:N127S	ENSP00000352400:N1350S	N	+	2	0	NUP214	133062751	0.000000	0.05858	0.562000	0.28370	0.681000	0.39784	0.173000	0.16724	0.231000	0.21079	-0.366000	0.07423	AAT		0.512	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		13	103	0	0	0	0.175082	0	13	103					G	134072930	A	G	134072930	3	3	426	1	0	0	0	0	1	0	0	0	10762	101	4	3	4163	3	NUP214	9	134072930	Missense_Mutation	SNP	A	TCGA-FY-A3I4-01A-11D-A21A-08	36990182	134072930	7140501	6	8703											
NAT10	55226	broad.mit.edu	37	chr11	34149080	34149080	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattgatgaagctgccgccaTccccctccccttggtgaaga	10	14	0	4			TCGA-FY-A3I4-01A-11D-A21A-08	TCGA-FY-A3I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e087d096-3086-4705-a308-75f12f9487eb	a40b24b5-781b-44cf-9d3c-499ddd16136e	g.chr11:34149080T>C	ENST00000257829.3	+	12	1384	c.1178T>C	c.(1177-1179)aTc>aCc	p.I393T	NAT10_ENST00000531159.2_Missense_Mutation_p.I321T|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	393						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GCTGCCGCCATCCCCCTCCCC	0.502																																						ENST00000257829.3																			0				endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1177-1179)aTc>aCc		N-acetyltransferase 10 (GCN5-related)							177	161	167					11																	34149080		2202	4298	6500	SO:0001583	missense	55226					nucleolus	ATP binding|N-acetyltransferase activity|protein binding	g.chr11:34149080T>C	AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"N-acetyltransferase 10"			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.1178T>C	11.37:g.34149080T>C	ENSP00000257829:p.Ile393Thr					NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Missense_Mutation_p.I321T	p.I393T	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN			12	1384	+		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)	393					B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Missense_Mutation	SNP	ENST00000257829.3	37	c.1178T>C	CCDS7889.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.860396	0.91433	.	.	ENSG00000135372	ENST00000257829;ENST00000531159	T;T	0.59638	0.25;0.25	5.99	5.99	0.97316	Domain of unknown function DUF699, exodeoxyribonuclease V alpha chain (1);	0.000000	0.85682	D	0.000000	D	0.84920	0.5579	H	0.97611	4.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90266	0.4304	10	0.87932	D	0	-23.1049	16.4943	0.84223	0.0:0.0:0.0:1.0	.	393	Q9H0A0	NAT10_HUMAN	T	393;321	ENSP00000257829:I393T;ENSP00000433011:I321T	ENSP00000257829:I393T	I	+	2	0	NAT10	34105656	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.581000	0.82535	2.291000	0.77112	0.533000	0.62120	ATC		0.502	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388693.1	NM_024662		4	177	0	0	0	0.014758	0	4	177					C	34149080	T	C	34149080	3	2	426	1	0	0	0	0	1	0	0	0	10174	1435	50	3	1220	3	NAT10	11	34149080	Missense_Mutation	SNP	T	TCGA-FY-A3I4-01A-11D-A21A-08		34149080	100857436	7	8704											
GPR44	11251	broad.mit.edu	37	chr11	60620167	60620169	+	In_Frame_Del	DEL	GCG	GCG	-													gagcgggcggtggaggaggtGcggcggcggcggctgcttcc							TCGA-FY-A3I4-01A-11D-A21A-08	TCGA-FY-A3I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e087d096-3086-4705-a308-75f12f9487eb	a40b24b5-781b-44cf-9d3c-499ddd16136e	g.chr11:60620167_60620169delGCG	ENST00000332539.4	-	2	1138_1140	c.1027_1029delCGC	c.(1027-1029)cgcdel	p.R343del	RP11-804A23.4_ENST00000538705.1_RNA	NM_004778.2	NP_004769.2	Q9Y5Y4	PD2R2_HUMAN	prostaglandin D2 receptor 2	343					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|calcium-mediated signaling (GO:0019722)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|prostaglandin D receptor activity (GO:0004956)|prostaglandin F receptor activity (GO:0004958)|prostaglandin J receptor activity (GO:0001785)									Indomethacin(DB00328)|Sulindac(DB00605)	TGGAGGAGGTGCGGCGGCGGCGG	0.749																																						ENST00000332539.4																			0											c.(1027-1029)del		prostaglandin D2 receptor 2				45,28,1843		12,1,20,7,13,905						-2.3	0.6		dbSNP_129	3	24,66,4762		5,0,14,11,44,2352	no	codingComplex	GPR44	NM_004778.2		17,1,34,18,57,3257	A1A1,A1A2,A1R,A2A2,A2R,RR		1.8549,3.81,2.4084				69,94,6605				SO:0001651	inframe_deletion	11251				immune response	integral to plasma membrane	N-formyl peptide receptor activity	g.chr11:60620167_60620169delGCG	AF118265	CCDS7994.1	11q12-q13.3	2012-08-08	2011-11-11	2011-11-11		ENSG00000183134		"CD molecules", "GPCR / Class A : Prostanoid receptors"	4502	protein-coding gene	gene with protein product	"chemoattractant receptor homologous molecule expressed on T helper type 2 cells"	604837	"G protein-coupled receptor 44"	GPR44		10036181	Standard	NM_004778		Approved	CRTH2, CD294, DP2	uc001nqc.2	Q9Y5Y4		ENST00000332539.4:c.1027_1029delCGC	11.37:g.60620176_60620178delGCG	ENSP00000332812:p.Arg343del						p.R343del	NM_004778.2	NP_004769.2	Q9Y5Y4	GPR44_HUMAN			2	1138_1140	-			343					O94765|Q4QRI6	In_Frame_Del	DEL	ENST00000332539.4	37	c.1027_1029delCGC	CCDS7994.1																																																																																				0.749	PTGDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396328.1	NM_004778		3	6						3	6	---	---	---	---	-	60620169	GCG	-	60620167	7	5	426	1	0	1	0	1	0	0	0	0	6695	1306	46	0	162	0	GPR44	11	60620167	In_Frame_Del	DEL	GCG	TCGA-FY-A3I4-01A-11D-A21A-08	26471087	60620167	74386349	8	8705											
CASC3	22794	broad.mit.edu	37	chr17	38318284	38318284	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcctgtggagaacaaagtGggtaaaaagggccctaagca	14	7	0	1	rs566068214		TCGA-FY-A3I4-01A-11D-A21A-08	TCGA-FY-A3I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e087d096-3086-4705-a308-75f12f9487eb	a40b24b5-781b-44cf-9d3c-499ddd16136e	g.chr17:38318284G>A	ENST00000264645.7	+	5	712	c.486G>A	c.(484-486)gtG>gtA	p.V162V		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	162	Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC.				gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)	p.V162V(1)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						AGAACAAAGTGGGTAAAAAGG	0.468																																						ENST00000264645.7																			1	Substitution - coding silent(1)	p.V162V(1)	kidney(1)	endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						c.(484-486)gtG>gtA		cancer susceptibility candidate 3							75	78	77					17																	38318284		2203	4300	6503	SO:0001819	synonymous_variant	22794				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding	g.chr17:38318284G>A	X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.486G>A	17.37:g.38318284G>A							p.V162V	NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN			5	712	+			162			Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC.		A8K8R0	Silent	SNP	ENST00000264645.7	37	c.486G>A	CCDS11362.1																																																																																				0.468	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257127.3	NM_007359		7	40	0	0	0	0.038147	0	7	40					A	38318284	G	A	38318284	2	1	426	1	0	0	0	0	0	0	0	1	2661	1335	47	2		2	CASC3	17	38318284	Silent	SNP	G	TCGA-FY-A3I4-01A-11D-A21A-08		38318284	42876926	9	8706											
TRPM4	54795	broad.mit.edu	37	chr19	49700047	49700047	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggccatgcctcactgagccAgcgcctgcgcctctacctcg	10	18	2	1	rs172155862	byFrequency	TCGA-FY-A3I4-01A-11D-A21A-08	TCGA-FY-A3I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e087d096-3086-4705-a308-75f12f9487eb	a40b24b5-781b-44cf-9d3c-499ddd16136e	g.chr19:49700047A>G	ENST00000252826.5	+	17	2687	c.2561A>G	c.(2560-2562)cAg>cGg	p.Q854R	TRPM4_ENST00000355712.5_Missense_Mutation_p.Q500R|TRPM4_ENST00000427978.2_Intron	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	854			Q -> R (in dbSNP:rs172155862). {ECO:0000269|PubMed:21887725}.		calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TCACTGAGCCAGCGCCTGCGC	0.726													A|||	2	0.000399361	0	0	5008	,	,		11239	0		0.002	False		,,,				2504	0					ENST00000252826.5																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.(2560-2562)cAg>cGg		transient receptor potential cation channel, subfamily M, member 4		A	,ARG/GLN	1,4381		0,1,2190	8	10	9		,2561	0.2	0.2	19		9	10,8550		0,10,4270	yes	intron,missense	TRPM4	NM_001195227.1,NM_017636.3	,43	0,11,6460	GG,GA,AA		0.1168,0.0228,0.085	,benign	,854/1215	49700047	11,12931	2191	4280	6471	SO:0001583	missense	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49700047A>G	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"Voltage-gated ion channels / Transient receptor potential cation channels"	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.2561A>G	19.37:g.49700047A>G	ENSP00000252826:p.Gln854Arg					TRPM4_ENST00000355712.5_Missense_Mutation_p.Q500R|TRPM4_ENST00000427978.2_Intron	p.Q854R	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	17	2687	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	854					A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	c.2561A>G	CCDS33073.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	A	7.349	0.622401	0.14193	2.28E-4	0.001168	ENSG00000130529	ENST00000252826;ENST00000355712	T;T	0.69685	-0.42;-0.42	3.47	0.147	0.14838	.	0.478094	0.21546	N	0.072817	T	0.44912	0.1316	N	0.16368	0.405	0.09310	N	1	B;B;B	0.13594	0.0;0.0;0.008	B;B;B	0.19391	0.001;0.0;0.025	T	0.31336	-0.9947	10	0.41790	T	0.15	-2.8528	7.1398	0.25550	0.6022:0.0:0.3978:0.0	.	500;680;854	B4DIX5;Q8TD43-2;Q8TD43	.;.;TRPM4_HUMAN	R	854;500	ENSP00000252826:Q854R;ENSP00000347944:Q500R	ENSP00000252826:Q854R	Q	+	2	0	TRPM4	54391859	0.027000	0.19231	0.190000	0.23270	0.485000	0.33311	0.313000	0.19415	0.160000	0.19432	0.444000	0.29173	CAG		0.726	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		5	10	0	0	0	0.038147	0	5	10					G	49700047	A	G	49700047	3	3	426	1	0	0	0	0	1	0	0	0	16585	188	7	3	2627	3	TRPM4	19	49700047	Missense_Mutation	SNP	A	TCGA-FY-A3I4-01A-11D-A21A-08		49700047	9428936	10	8707											
ZNF578	147660	broad.mit.edu	37	chr19	53014631	53014631	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acaagtcatcccttacatgcCatcataggtgtcacactggt	7	12	3	0			TCGA-FY-A3I4-01A-11D-A21A-08	TCGA-FY-A3I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e087d096-3086-4705-a308-75f12f9487eb	a40b24b5-781b-44cf-9d3c-499ddd16136e	g.chr19:53014631C>G	ENST00000421239.2	+	6	1241	c.997C>G	c.(997-999)Cat>Gat	p.H333D	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	333					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		CCTTACATGCCATCATAGGTG	0.428																																						ENST00000421239.2																			0											c.(997-999)Cat>Gat		zinc finger protein 578							112	114	113					19																	53014631		2200	4300	6500	SO:0001583	missense	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53014631C>G	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"Zinc fingers, C2H2-type", "-"	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.997C>G	19.37:g.53014631C>G	ENSP00000459216:p.His333Asp					CTD-3099C6.5_ENST00000599143.1_RNA	p.H333D	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	6	1241	+			108					B4DR51|I3L1Y6	Missense_Mutation	SNP	ENST00000421239.2	37	c.997C>G	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	10.06	1.248138	0.22880	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.48	1.48	0.22813	.	.	.	.	.	T	0.69214	0.3086	H	0.97214	3.96	0.20403	N	0.999908	B	0.06786	0.001	B	0.08055	0.003	T	0.65529	-0.6146	7	.	.	.	.	10.0458	0.42186	0.0:1.0:0.0:0.0	.	333	G3V4F6	.	D	333	.	.	H	+	1	0	ZNF578	57706443	0.991000	0.36638	0.001000	0.08648	0.011000	0.07611	3.772000	0.55325	0.835000	0.34877	0.297000	0.19635	CAT		0.428	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472		20	94	0	0	0	0.055883	0	20	94					G	53014631	C	G	53014631	3	3	426	1	0	0	0	0	1	0	0	0	18007	594	21	4	1007	4	ZNF578	19	53014631	Missense_Mutation	SNP	C	TCGA-FY-A3I4-01A-11D-A21A-08	3314584	53014631	6114352	11	8708											
APOOL	139322	broad.mit.edu	37	chrX	84322155	84322155	+	Frame_Shift_Del	DEL	T	T	-													tccaagtttaagaaaattacTtatcctctgggactggccac							TCGA-FY-A3I4-01A-11D-A21A-08	TCGA-FY-A3I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e087d096-3086-4705-a308-75f12f9487eb	a40b24b5-781b-44cf-9d3c-499ddd16136e	g.chrX:84322155delT	ENST00000373173.2	+	6	504	c.417delT	c.(415-417)actfs	p.T139fs		NM_198450.5	NP_940852.3	Q6UXV4	MIC27_HUMAN	apolipoprotein O-like	139						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGAAAATTACTTATCCTCTGG	0.333																																						ENST00000373173.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(415-417)acfs		apolipoprotein O-like							38	32	34					X																	84322155		1735	3883	5618	SO:0001589	frameshift_variant	139322					extracellular region		g.chrX:84322155delT	AK130506	CCDS48138.1	Xq21.1	2007-01-17	2007-01-17	2007-01-17	ENSG00000155008	ENSG00000155008			24009	protein-coding gene	gene with protein product			"chromosome X open reading frame 33", "family with sequence similarity 121A"	CXorf33, FAM121A		12975309	Standard	NM_198450		Approved	UNQ8193, AAIR8193	uc004eem.3	Q6UXV4	OTTHUMG00000021930	ENST00000373173.2:c.417delT	X.37:g.84322155delT	ENSP00000362268:p.Thr139fs						p.T139fs	NM_198450.5	NP_940852.3	Q6UXV4	APOOL_HUMAN			6	504	+			139					Q3KNU7|Q5H9D1	Frame_Shift_Del	DEL	ENST00000373173.2	37	c.417delT	CCDS48138.1																																																																																				0.333	APOOL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057385.2	NM_198450		2	4						2	4	---	---	---	---	-	84322155	T	-	84322155	7	5	426	1	0	1	0	1	0	0	0	0	814	1596	56	0	439	0	APOOL	23	84322155	Frame_Shift_Del	DEL	T	TCGA-FY-A3I4-01A-11D-A21A-08		84322155	70948405	12	8709											
SMARCA1	6594	broad.mit.edu	37	chrX	128649760	128649760	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tctctcagtggcccccctttCacatctggtgaaaaaatgca	7	13	4	1			TCGA-FY-A3I4-01A-11D-A21A-08	TCGA-FY-A3I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e087d096-3086-4705-a308-75f12f9487eb	a40b24b5-781b-44cf-9d3c-499ddd16136e	g.chrX:128649760C>G	ENST00000371122.4	-	5	663	c.534G>C	c.(532-534)gtG>gtC	p.V178V	SMARCA1_ENST00000371121.3_Silent_p.V178V|SMARCA1_ENST00000371123.1_Silent_p.V178V|SMARCA1_ENST00000478420.1_5'UTR	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	178					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						GCCCCCCTTTCACATCTGGTG	0.343																																						ENST00000371122.4																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						c.(532-534)gtG>gtC		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1							65	62	63					X																	128649760		2203	4300	6503	SO:0001819	synonymous_variant	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128649760C>G	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.534G>C	X.37:g.128649760C>G						SMARCA1_ENST00000371123.1_Silent_p.V178V|SMARCA1_ENST00000371121.3_Silent_p.V178V|SMARCA1_ENST00000478420.1_5'UTR	p.V178V	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN			5	663	-			178					Q5JV41|Q5JV42	Silent	SNP	ENST00000371122.4	37	c.534G>C	CCDS14612.1																																																																																				0.343	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		15	66	0	0	0	0.160694	0	15	66					G	128649760	C	G	128649760	2	3	426	1	0	0	0	0	0	0	0	1	14768	813	29	4		4	SMARCA1	23	128649760	Silent	SNP	C	TCGA-FY-A3I4-01A-11D-A21A-08	44327605	128649760	26620800	13	8710											
GBP2	2634	broad.mit.edu	37	chr1	89579760	89579760	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttcttcatgaagacttcaAtggcctctctctcactgtcc	6	13	5	2			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr1:89579760A>G	ENST00000370466.3	-	7	1356	c.1088T>C	c.(1087-1089)aTt>aCt	p.I363T	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	363					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		GAAGACTTCAATGGCCTCTCT	0.493																																						ENST00000370466.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20						c.(1087-1089)aTt>aCt		guanylate binding protein 2, interferon-inducible							126	124	125					1																	89579760		2203	4300	6503	SO:0001583	missense	2634				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89579760A>G	BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.1088T>C	1.37:g.89579760A>G	ENSP00000359497:p.Ile363Thr					GBP2_ENST00000463660.1_5'UTR	p.I363T	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN		all cancers(265;0.0151)|Epithelial(280;0.0284)	7	1356	-		Lung NSC(277;0.0908)	363					Q6GPH0|Q6IAU2|Q86TB0	Missense_Mutation	SNP	ENST00000370466.3	37	c.1088T>C	CCDS719.1	.	.	.	.	.	.	.	.	.	.	A	12.14	1.849324	0.32699	.	.	ENSG00000162645	ENST00000370466	T	0.02498	4.27	3.85	-1.68	0.08212	Guanylate-binding protein, C-terminal (3);	0.213930	0.29684	U	0.011471	T	0.01800	0.0057	L	0.55103	1.725	0.09310	N	1	P	0.43392	0.805	P	0.51415	0.669	T	0.41734	-0.9492	10	0.42905	T	0.14	-17.4424	5.0524	0.14514	0.4357:0.1704:0.3939:0.0	.	363	P32456	GBP2_HUMAN	T	363	ENSP00000359497:I363T	ENSP00000359497:I363T	I	-	2	0	GBP2	89352348	0.572000	0.26668	0.009000	0.14445	0.815000	0.46073	2.093000	0.41710	-0.446000	0.07149	-0.379000	0.06801	ATT		0.493	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029406.2	NM_004120		42	108	0	0	0	0.870114	0	42	108					G	89579760	A	G	89579760	3	3	427	1	0	0	0	0	1	0	0	0	6274	101	4	3	707	3	GBP2	1	89579760	Missense_Mutation	SNP	A	TCGA-FY-A3I5-01B-11D-A21Z-08		89579760	159670861	1	8711											
ROBO2	6092	broad.mit.edu	37	chr3	77623657	77623657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatgtttttcaggttgatcGccaaccccagtttatccaag	7	11	1	1	rs565768356		TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr3:77623657G>A	ENST00000461745.1	+	14	2879	c.1979G>A	c.(1978-1980)cGc>cAc	p.R660H	ROBO2_ENST00000332191.8_Missense_Mutation_p.R660H|ROBO2_ENST00000487694.3_Missense_Mutation_p.R676H	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	660	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CAGGTTGATCGCCAACCCCAG	0.423													G|||	1	0.000199681	0	0	5008	,	,		19766	0.001		0	False		,,,				2504	0					ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(1978-1980)cGc>cAc		roundabout, axon guidance receptor, homolog 2 (Drosophila)							96	86	89					3																	77623657		1917	4108	6025	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77623657G>A	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1979G>A	3.37:g.77623657G>A	ENSP00000417164:p.Arg660His					ROBO2_ENST00000487694.3_Missense_Mutation_p.R676H|ROBO2_ENST00000332191.8_Missense_Mutation_p.R660H	p.R660H	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	14	2879	+			660			Fibronectin type-III 2.		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.1979G>A	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539340	0.65085	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.58060	0.36;0.36;0.36	5.71	5.71	0.89125	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.45867	D	0.000329	T	0.57577	0.2063	M	0.69823	2.125	0.45648	D	0.998574	B;B;P	0.35908	0.327;0.175;0.527	B;B;B	0.36567	0.153;0.174;0.228	T	0.61004	-0.7150	9	0.44086	T	0.13	.	19.8397	0.96678	0.0:0.0:1.0:0.0	.	676;660;660	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	H	676;676;680;660;660;381	ENSP00000417335:R676H;ENSP00000417164:R660H;ENSP00000327536:R660H	ENSP00000327536:R660H	R	+	2	0	ROBO2	77706347	1.000000	0.71417	1.000000	0.80357	0.416000	0.31233	9.864000	0.99589	2.685000	0.91497	0.591000	0.81541	CGC		0.423	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		24	48	0	0	0	0.706142	0	24	48					A	77623657	G	A	77623657	3	1	427	1	0	0	0	0	1	0	0	0	13514	1087	38	1	2035	1	ROBO2	3	77623657	Missense_Mutation	SNP	G	TCGA-FY-A3I5-01B-11D-A21Z-08		77623657	120398773	2	8712											
ADPRH	141	broad.mit.edu	37	chr3	119305412	119305412	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacccttgcagtggggaaaAggactgatggagctgctacc	13	11	0	1			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr3:119305412A>G	ENST00000478399.1	+	3	1984	c.579A>G	c.(577-579)aaA>aaG	p.K193K	ADPRH_ENST00000465513.1_Silent_p.K193K|ADPRH_ENST00000478927.1_Silent_p.K193K|ADPRH_ENST00000357003.3_Silent_p.K193K|ADPRH_ENST00000471850.1_3'UTR			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	193					cellular protein modification process (GO:0006464)|protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		AGTGGGGAAAAGGACTGATGG	0.512																																					GBM(133;579 1804 5989 9967 40052)	ENST00000478399.1																			0				breast(1)|kidney(1)|lung(10)|ovary(1)	13						c.(577-579)aaA>aaG		ADP-ribosylarginine hydrolase							86	89	88					3																	119305412		2203	4300	6503	SO:0001819	synonymous_variant	141				protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	g.chr3:119305412A>G	L13291	CCDS2990.1	3q13.31-q13.33	2004-02-27			ENSG00000144843	ENSG00000144843			269	protein-coding gene	gene with protein product		603081				8349667, 12070318	Standard	NM_001125		Approved	ARH1	uc003ecs.3	P54922	OTTHUMG00000159420	ENST00000478399.1:c.579A>G	3.37:g.119305412A>G						ADPRH_ENST00000357003.3_Silent_p.K193K|ADPRH_ENST00000478927.1_Silent_p.K193K|ADPRH_ENST00000465513.1_Silent_p.K193K|ADPRH_ENST00000471850.1_3'UTR	p.K193K			P54922	ADPRH_HUMAN		GBM - Glioblastoma multiforme(114;0.23)	3	1984	+		Lung NSC(201;0.0977)	193					B2R8H1|D3DN83	Silent	SNP	ENST00000478399.1	37	c.579A>G	CCDS2990.1																																																																																				0.512	ADPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355199.1	NM_001125		3	107	0	0	0	0.115264	0	3	107					G	119305412	A	G	119305412	2	3	427	1	0	0	0	0	0	0	0	1	331	69	3	3		3	ADPRH	3	119305412	Silent	SNP	A	TCGA-FY-A3I5-01B-11D-A21Z-08	41681755	119305412	78717018	3	8713											
VDAC1	7416	broad.mit.edu	37	chr5	133311612	133311612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggctgctattccgaagcGcgtgttactgtttcctgctg	11	11	0	0	rs375779223		TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr5:133311612G>A	ENST00000265333.3	-	7	896	c.652C>T	c.(652-654)Cgc>Tgc	p.R218C	VDAC1_ENST00000395044.3_Missense_Mutation_p.R218C|VDAC1_ENST00000395047.2_Missense_Mutation_p.R218C	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	218					anion transport (GO:0006820)|apoptotic process (GO:0006915)|behavioral fear response (GO:0001662)|epithelial cell differentiation (GO:0030855)|learning (GO:0007612)|neuron-neuron synaptic transmission (GO:0007270)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein kinase binding (GO:0019901)|voltage-gated anion channel activity (GO:0008308)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	ATTCCGAAGCGCGTGTTACTG	0.522																																					NSCLC(127;1776 1806 35523 41489 48154)	ENST00000265333.3																			0				endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(652-654)Cgc>Tgc		voltage-dependent anion channel 1	Dihydroxyaluminium(DB01375)	G	CYS/ARG	0,4406		0,0,2203	163	156	159		652	5.4	1.0	5		159	1,8595	1.2+/-3.3	0,1,4297	no	missense	VDAC1	NM_003374.2	180	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign	218/284	133311612	1,13001	2203	4298	6501	SO:0001583	missense	7416				apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity	g.chr5:133311612G>A		CCDS4168.1	5q31	2011-11-15			ENSG00000213585	ENSG00000213585		"Voltage-dependent anion channels"	12669	protein-coding gene	gene with protein product		604492				7517385	Standard	NM_003374		Approved	MGC111064, PORIN	uc003kyr.2	P21796	OTTHUMG00000129118	ENST00000265333.3:c.652C>T	5.37:g.133311612G>A	ENSP00000265333:p.Arg218Cys					VDAC1_ENST00000395044.3_Missense_Mutation_p.R218C|VDAC1_ENST00000395047.2_Missense_Mutation_p.R218C	p.R218C	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		7	896	-			218					B3KVK4|D3DQ93|Q5FVE7|Q9UIQ5|Q9UPL0	Missense_Mutation	SNP	ENST00000265333.3	37	c.652C>T	CCDS4168.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654466	0.67472	0.0	1.16E-4	ENSG00000213585	ENST00000265333;ENST00000395044;ENST00000395047	T;T;T	0.44482	0.92;0.92;0.92	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.33000	0.0848	N	0.16307	0.4	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.12016	-1.0564	10	0.87932	D	0	.	19.5098	0.95137	0.0:0.0:1.0:0.0	.	218	P21796	VDAC1_HUMAN	C	218	ENSP00000265333:R218C;ENSP00000378484:R218C;ENSP00000378487:R218C	ENSP00000265333:R218C	R	-	1	0	VDAC1	133339511	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.832000	0.86757	2.692000	0.91855	0.579000	0.79373	CGC		0.522	VDAC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259208.1			56	215	0	0	0	0.870114	0	56	215					A	133311612	G	A	133311612	3	1	427	1	0	0	0	0	1	0	0	0	17143	1087	38	1	211	1	VDAC1	5	133311612	Missense_Mutation	SNP	G	TCGA-FY-A3I5-01B-11D-A21Z-08		133311612	47603648	4	8714											
AP4M1	9179	broad.mit.edu	37	chr7	99704048	99704048	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtctcaggagctgagcagcCcagagcagaaggctgagctg	15	10	1	4			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr7:99704048C>A	ENST00000359593.4	+	14	1206	c.1048C>A	c.(1048-1050)Cca>Aca	p.P350T	AP4M1_ENST00000421755.1_Missense_Mutation_p.P350T|AP4M1_ENST00000422582.1_Missense_Mutation_p.P222T|AP4M1_ENST00000429084.1_Missense_Mutation_p.P357T	NM_004722.3	NP_004713.2	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	350	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)					GCTGAGCAGCCCAGAGCAGAA	0.607																																					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.(1069-1071)Cca>Aca		adaptor-related protein complex 4, mu 1 subunit							42	46	44					7																	99704048		2203	4300	6503	SO:0001583	missense	9179				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity	g.chr7:99704048C>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.1048C>A	7.37:g.99704048C>A	ENSP00000352603:p.Pro350Thr					AP4M1_ENST00000422582.1_Missense_Mutation_p.P222T|AP4M1_ENST00000359593.4_Missense_Mutation_p.P350T|AP4M1_ENST00000421755.1_Missense_Mutation_p.P350T	p.P357T			O00189	AP4M1_HUMAN			14	1227	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		350			MHD.		D6W5U1|Q8WV65|Q9UHK9	Missense_Mutation	SNP	ENST00000359593.4	37	c.1069C>A	CCDS5685.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332097	0.81801	.	.	ENSG00000221838	ENST00000438383;ENST00000429084;ENST00000359593;ENST00000421755;ENST00000422582;ENST00000450807	T;T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09;2.09	4.81	4.81	0.61882	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.34745	0.0908	L	0.54323	1.7	0.80722	D	1	P;D;P	0.56287	0.816;0.975;0.786	P;P;P	0.54346	0.633;0.749;0.536	T	0.08411	-1.0723	10	0.87932	D	0	-15.5613	15.4139	0.74948	0.0:1.0:0.0:0.0	.	302;357;350	B4DKN7;C9JC87;O00189	.;.;AP4M1_HUMAN	T	282;357;350;350;222;102	ENSP00000401613:P282T;ENSP00000403663:P357T;ENSP00000352603:P350T;ENSP00000412185:P350T;ENSP00000406676:P222T;ENSP00000391585:P102T	ENSP00000352603:P350T	P	+	1	0	AP4M1	99541984	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.202000	0.72131	2.501000	0.84356	0.561000	0.74099	CCA		0.607	AP4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336772.4	NM_004722		3	80	1	0	0.115264	0.115264	0.133855	3	80					A	99704048	C	A	99704048	3	1	427	1	0	0	0	0	1	0	0	0	753	623	22	4	1102	4	AP4M1	7	99704048	Missense_Mutation	SNP	C	TCGA-FY-A3I5-01B-11D-A21Z-08		99704048	59434615	5	8715											
HOOK3	84376	broad.mit.edu	37	chr8	42873627	42873627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccaggccacgtgcagccgGccacagcaaggtagagaagt	13	13	0	1			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr8:42873627G>A	ENST00000307602.4	+	22	2343	c.2143G>A	c.(2143-2145)Gcc>Acc	p.A715T	RP11-598P20.5_ENST00000534420.1_Missense_Mutation_p.A21T	NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	715	Required for association with Golgi.|Required for interaction with MSR1.				cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			CGTGCAGCCGGCCACAGCAAG	0.537			T	RET	papillary thyroid																																	ENST00000307602.4				Dom	yes		8	8p11.21	84376	T	hook homolog 3			E	RET		papillary thyroid		0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31						c.(2143-2145)Gcc>Acc		hook microtubule-tethering protein 3							71	67	68					8																	42873627		2203	4300	6503	SO:0001583	missense	84376				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding	g.chr8:42873627G>A	AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"hook homolog 3 (Drosophila)"			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.2143G>A	8.37:g.42873627G>A	ENSP00000305699:p.Ala715Thr					RP11-598P20.5_ENST00000534420.1_Missense_Mutation_p.A21T	p.A715T	NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)		22	2343	+	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	715			Required for association with Golgi.|Required for interaction with MSR1.		D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	ENST00000307602.4	37	c.2143G>A	CCDS6139.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.845|8.845	0.943158|0.943158	0.18281|0.18281	.|.	.|.	ENSG00000168172;ENSG00000254673|ENSG00000168172	ENST00000307602;ENST00000534420|ENST00000533338	T|.	0.17528|.	2.27|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.093281|.	0.85682|.	D|.	0.000000|.	T|T	0.57533|0.57533	0.2060|0.2060	N|N	0.24115|0.24115	0.695|0.695	0.58432|0.58432	D|D	0.999993|0.999993	B|.	0.24920|.	0.114|.	B|.	0.24701|.	0.055|.	T|T	0.49173|0.49173	-0.8967|-0.8967	10|5	0.09590|.	T|.	0.72|.	-0.224|-0.224	20.422|20.422	0.99049|0.99049	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	715|.	Q86VS8|.	HOOK3_HUMAN|.	T|D	715;21|27	ENSP00000305699:A715T|.	ENSP00000305699:A715T|.	A|G	+|+	1|2	0|0	RP11-598P20.5;HOOK3|HOOK3	42992784|42992784	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.074000|0.074000	0.17049|0.17049	6.365000|6.365000	0.73090|0.73090	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	GCC|GGC		0.537	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410		4	129	0	0	0	0.184627	0	4	129					A	42873627	G	A	42873627	3	1	427	1	0	0	0	0	1	0	0	0	7284	1203	42	2	2229	2	HOOK3	8	42873627	Missense_Mutation	SNP	G	TCGA-FY-A3I5-01B-11D-A21Z-08		42873627	103490395	6	8716											
EFCAB1	79645	broad.mit.edu	37	chr8	49643961	49643961	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtcacatgcaggatgtttcGaaatgcattacgatccagtc	9	9	1	0	rs201706002		TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr8:49643961G>A	ENST00000262103.3	-	2	240	c.160C>T	c.(160-162)Cga>Tga	p.R54*	EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000523092.1_Intron|EFCAB1_ENST00000433756.1_Intron	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	54							calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				AGGATGTTTCGAAATGCATTA	0.393													G|||	1	0.000199681	0	0	5008	,	,		16776	0.001		0	False		,,,				2504	0					ENST00000262103.3																			0				endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14						c.(160-162)Cga>Tga		EF-hand calcium binding domain 1							127	114	118					8																	49643961		2203	4300	6503	SO:0001587	stop_gained	79645						calcium ion binding	g.chr8:49643961G>A		CCDS6145.1, CCDS47853.1	8q11.21	2013-01-10			ENSG00000034239	ENSG00000034239		"EF-hand domain containing"	25678	protein-coding gene	gene with protein product						12477932	Standard	NM_024593		Approved	FLJ11767	uc003xqo.2	Q9HAE3	OTTHUMG00000164203	ENST00000262103.3:c.160C>T	8.37:g.49643961G>A	ENSP00000262103:p.Arg54*					EFCAB1_ENST00000523092.1_Intron|EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000433756.1_Intron	p.R54*	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN			2	240	-		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)	54					B4DSB4|E7EVN7	Nonsense_Mutation	SNP	ENST00000262103.3	37	c.160C>T	CCDS6145.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	32	5.154769	0.94686	.	.	ENSG00000034239	ENST00000262103;ENST00000450553	.	.	.	4.89	1.95	0.26073	.	0.052062	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.917	0.52771	0.0:0.0:0.386:0.614	.	.	.	.	X	54	.	ENSP00000262103:R54X	R	-	1	2	EFCAB1	49806514	1.000000	0.71417	0.985000	0.45067	0.962000	0.63368	1.451000	0.35145	0.285000	0.22329	-0.188000	0.12872	CGA		0.393	EFCAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377778.1	NM_024593		29	88	0	0	0	0.740014	0	29	88					A	49643961	G	A	49643961	4	1	427	1	0	0	0	0	0	1	0	0	4933	1066	37	1	495	1	EFCAB1	8	49643961	Nonsense_Mutation	SNP	G	TCGA-FY-A3I5-01B-11D-A21Z-08	6770334	49643961	96720061	7	8717											
GALNT12	79695	broad.mit.edu	37	chr9	101597558	101597558	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaatggctggtgggctgttTgctgtgagtaagaaatattt	13	4	0	2			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr9:101597558T>C	ENST00000375011.3	+	5	945	c.945T>C	c.(943-945)ttT>ttC	p.F315F		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	315	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				GTGGGCTGTTTGCTGTGAGTA	0.393																																						ENST00000375011.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(943-945)ttT>ttC		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)							146	154	151					9																	101597558		2203	4300	6503	SO:0001819	synonymous_variant	79695					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr9:101597558T>C	AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19877	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 12"	610290	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.945T>C	9.37:g.101597558T>C							p.F315F	NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN			5	945	+		Acute lymphoblastic leukemia(62;0.0559)	315			Catalytic subdomain B.		Q5TCF7|Q8NG54|Q96CT9|Q9H771	Silent	SNP	ENST00000375011.3	37	c.945T>C	CCDS6737.1																																																																																				0.393	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053382.1	NM_024642		75	76	0	0	0	0.870114	0	75	76					C	101597558	T	C	101597558	2	2	427	1	0	0	0	0	0	0	0	1	6210	1809	63	3		3	GALNT12	9	101597558	Silent	SNP	T	TCGA-FY-A3I5-01B-11D-A21Z-08		101597558	39615873	8	8718											
ABCA1	19	broad.mit.edu	37	chr9	107562200	107562200	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccttttgcaggttggcccGgagaatggcattgttgatga	13	8	0	3			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr9:107562200G>A	ENST00000374736.3	-	36	5237	c.4843C>T	c.(4843-4845)Cgg>Tgg	p.R1615W		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1615			R -> Q (associated with reduced plasma HDL cholesterol). {ECO:0000269|PubMed:15297675}.		apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	AGGTTGGCCCGGAGAATGGCA	0.468																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(4843-4845)Cgg>Tgg		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						136	123	127					9																	107562200		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107562200G>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.4843C>T	9.37:g.107562200G>A	ENSP00000363868:p.Arg1615Trp						p.R1615W	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	36	5237	-			1615		R -> Q (associated with reduced plasma HDL cholesterol).			Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.4843C>T	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813914	0.90790	.	.	ENSG00000165029	ENST00000374736	D	0.88354	-2.37	5.78	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.89849	0.6834	M	0.66939	2.045	0.80722	D	1	P	0.51653	0.947	P	0.46659	0.523	D	0.91231	0.5014	10	0.87932	D	0	.	16.8066	0.85707	0.0:0.0:0.871:0.129	.	1615	O95477	ABCA1_HUMAN	W	1615	ENSP00000363868:R1615W	ENSP00000363868:R1615W	R	-	1	2	ABCA1	106602021	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	6.567000	0.73983	2.894000	0.99253	0.655000	0.94253	CGG		0.468	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		3	121	0	0	0	0.115264	0	3	121					A	107562200	G	A	107562200	3	1	427	1	0	0	0	0	1	0	0	0	28	1115	39	1	2002	1	ABCA1	9	107562200	Missense_Mutation	SNP	G	TCGA-FY-A3I5-01B-11D-A21Z-08	5964642	107562200	33651231	9	8719											
ITGA8	8516	broad.mit.edu	37	chr10	15655758	15655758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcatctacagtcacaaccGgtcttgctctgcggggagaa	13	11	4	1			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr10:15655758G>A	ENST00000378076.3	-	15	1807	c.1454C>T	c.(1453-1455)cCg>cTg	p.P485L		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	485					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AGTCACAACCGGTCTTGCTCT	0.463																																						ENST00000378076.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						c.(1453-1455)cCg>cTg		integrin, alpha 8							91	92	92					10																	15655758		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15655758G>A	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1454C>T	10.37:g.15655758G>A	ENSP00000367316:p.Pro485Leu						p.P485L	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN			15	1807	-			485					B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.1454C>T	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604699	0.66445	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.79749	-1.3	5.23	5.23	0.72850	Integrin alpha-2 (1);	0.049578	0.85682	D	0.000000	D	0.90710	0.7085	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70227	0.946;0.968	D	0.92321	0.5866	10	0.87932	D	0	.	16.995	0.86365	0.0:0.0:1.0:0.0	.	470;485	F5H818;P53708	.;ITA8_HUMAN	L	485;470	ENSP00000367316:P485L	ENSP00000367316:P485L	P	-	2	0	ITGA8	15695764	1.000000	0.71417	0.888000	0.34837	0.492000	0.33523	6.780000	0.75063	2.443000	0.82685	0.467000	0.42956	CCG		0.463	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		3	102	0	0	0	0.115264	0	3	102					A	15655758	G	A	15655758	3	1	427	1	0	0	0	0	1	0	0	0	7882	1116	39	1	1801	1	ITGA8	10	15655758	Missense_Mutation	SNP	G	TCGA-FY-A3I5-01B-11D-A21Z-08		15655758	119878989	10	8720											
CNNM1	26507	broad.mit.edu	37	chr10	101120670	101120670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgtttaagctttcggacaCggagatgcgggtgaagatct	13	7	1	3			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr10:101120670C>T	ENST00000356713.4	+	3	2085	c.1796C>T	c.(1795-1797)aCg>aTg	p.T599M	CNNM1_ENST00000370534.4_Missense_Mutation_p.T234M|CNNM1_ENST00000370528.3_Missense_Mutation_p.T528M|CNNM1_ENST00000446890.1_Missense_Mutation_p.T528M	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	599					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CTTTCGGACACGGAGATGCGG	0.542																																						ENST00000356713.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25						c.(1795-1797)aCg>aTg		cyclin M1							118	112	114					10																	101120670		2203	4300	6503	SO:0001583	missense	26507				ion transport	integral to membrane|plasma membrane		g.chr10:101120670C>T	AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"cyclin M1"	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.1796C>T	10.37:g.101120670C>T	ENSP00000349147:p.Thr599Met					CNNM1_ENST00000446890.1_Missense_Mutation_p.T528M|CNNM1_ENST00000370534.4_Missense_Mutation_p.T234M|CNNM1_ENST00000370528.3_Missense_Mutation_p.T528M	p.T599M	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)	3	2085	+		Colorectal(252;0.234)	599					Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	ENST00000356713.4	37	c.1796C>T	CCDS7478.2	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993324	0.54041	.	.	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528;ENST00000370534;ENST00000545665	D;D;D;T	0.82984	-1.67;-1.66;-1.66;-0.67	5.74	4.82	0.62117	.	0.234551	0.39210	N	0.001424	T	0.79046	0.4380	N	0.24115	0.695	0.27084	N	0.963001	P;D;P;B	0.53312	0.84;0.959;0.919;0.41	B;P;B;B	0.48901	0.255;0.594;0.101;0.202	T	0.74651	-0.3594	10	0.62326	D	0.03	-28.5079	15.0721	0.72046	0.0:0.5648:0.4352:0.0	.	234;599;234;599	F5H5J0;Q9NRU3-2;B7Z5S3;Q9NRU3	.;.;.;CNNM1_HUMAN	M	599;528;528;234;52	ENSP00000349147:T599M;ENSP00000406492:T528M;ENSP00000359559:T528M;ENSP00000359565:T234M	ENSP00000349147:T599M	T	+	2	0	CNNM1	101110660	1.000000	0.71417	0.477000	0.27303	0.911000	0.54048	4.314000	0.59166	1.386000	0.46466	0.655000	0.94253	ACG		0.542	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348		4	121	0	0	0	0.150653	0	4	121					T	101120670	C	T	101120670	3	4	427	1	0	0	0	0	1	0	0	0	3612	536	19	1	1806	1	CNNM1	10	101120670	Missense_Mutation	SNP	C	TCGA-FY-A3I5-01B-11D-A21Z-08	85464912	101120670	34414077	11	8721											
EFEMP2	30008	broad.mit.edu	37	chr11	65636030	65636030	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaccctgtgggcagtggcaGgagaaacggcctggctcgtt	15	10	0	1			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr11:65636030G>A	ENST00000307998.6	-	8	1028	c.798C>T	c.(796-798)tcC>tcT	p.S266S	EFEMP2_ENST00000532648.1_5'Flank|EFEMP2_ENST00000528176.1_Silent_p.S266S	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	266	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GGCAGTGGCAGGAGAAACGGC	0.622																																						ENST00000307998.6																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(796-798)tcC>tcT		EGF containing fibulin-like extracellular matrix protein 2							83	74	77					11																	65636030		2201	4296	6497	SO:0001819	synonymous_variant	30008				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity	g.chr11:65636030G>A	AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"Fibulins"	3219	protein-coding gene	gene with protein product	"fibulin 4"	604633	"EGF-containing fibulin-like extracellular matrix protein 2"			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.798C>T	11.37:g.65636030G>A						EFEMP2_ENST00000528176.1_Silent_p.S266S	p.S266S	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN		READ - Rectum adenocarcinoma(159;0.169)	8	1028	-			266			EGF-like 5; calcium-binding (Potential).		A8K7R4|B3KM31|B3KQT1|O75967	Silent	SNP	ENST00000307998.6	37	c.798C>T	CCDS8116.1																																																																																				0.622	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4	NM_016938		3	64	0	0	0	0.115264	0	3	64					A	65636030	G	A	65636030	2	1	427	1	0	0	0	0	0	0	0	1	4942	987	35	2		2	EFEMP2	11	65636030	Silent	SNP	G	TCGA-FY-A3I5-01B-11D-A21Z-08		65636030	69370486	12	8722											
ZW10	9183	broad.mit.edu	37	chr11	113631247	113631247	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttagtacctcttccagacgCtgagcaccagtgacatactt	7	12	1	3			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr11:113631247C>A	ENST00000200135.3	-	4	552	c.408G>T	c.(406-408)caG>caT	p.Q136H		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	136	Interaction with RINT1.				ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		CTTCCAGACGCTGAGCACCAG	0.323																																						ENST00000200135.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18						c.(406-408)caG>caT		zw10 kinetochore protein							178	177	177					11																	113631247		2201	4296	6497	SO:0001583	missense	9183				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding	g.chr11:113631247C>A	U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"ZW10 (Drosophila) homolog, centromere/kinetochore protein", "ZW10, kinetochore associated, homolog (Drosophila)"			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.408G>T	11.37:g.113631247C>A	ENSP00000200135:p.Gln136His						p.Q136H	NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)	4	552	-		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)	136			Interaction with RINT1.		A1A528	Missense_Mutation	SNP	ENST00000200135.3	37	c.408G>T	CCDS8363.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.213841	0.39102	.	.	ENSG00000086827	ENST00000200135	T	0.43688	0.94	5.19	2.18	0.27775	.	0.490903	0.24554	N	0.037526	T	0.40473	0.1118	L	0.44542	1.39	0.21915	N	0.999475	B	0.30361	0.277	B	0.43478	0.421	T	0.35773	-0.9775	10	0.41790	T	0.15	-0.0167	7.1591	0.25654	0.0:0.5868:0.2735:0.1397	.	136	O43264	ZW10_HUMAN	H	136	ENSP00000200135:Q136H	ENSP00000200135:Q136H	Q	-	3	2	ZW10	113136457	0.692000	0.27719	0.498000	0.27564	0.880000	0.50808	0.272000	0.18644	0.732000	0.32470	0.484000	0.47621	CAG		0.323	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1	NM_004724		81	223	1	0	7.0969e-38	0.870114	8.80995e-38	81	223					A	113631247	C	A	113631247	3	1	427	1	0	0	0	0	1	0	0	0	18244	796	28	4	1983	4	ZW10	11	113631247	Missense_Mutation	SNP	C	TCGA-FY-A3I5-01B-11D-A21Z-08	47995217	113631247	21375269	13	8723											
TCHP	84260	broad.mit.edu	37	chr12	110353299	110353299	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggtcgagcagctctcagatgCcctgctgcagcaggaggcgg	16	12	1	1			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr12:110353299C>G	ENST00000312777.5	+	12	1626	c.1412C>G	c.(1411-1413)gCc>gGc	p.A471G	TCHP_ENST00000405876.4_Missense_Mutation_p.A471G	NM_032300.4	NP_115676.1			trichoplein, keratin filament binding											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						CTCTCAGATGCCCTGCTGCAG	0.637																																						ENST00000312777.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						c.(1411-1413)gCc>gGc		trichoplein, keratin filament binding							34	34	34					12																	110353299		2203	4300	6503	SO:0001583	missense	84260				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding	g.chr12:110353299C>G	AK092736	CCDS9137.1	12q24.11	2011-08-25	2006-01-27			ENSG00000139437			28135	protein-coding gene	gene with protein product	"mitostatin"	612654				15731013, 20930847	Standard	NM_032300		Approved	MGC10854, TpMs	uc001tpn.3	Q9BT92		ENST00000312777.5:c.1412C>G	12.37:g.110353299C>G	ENSP00000324404:p.Ala471Gly					TCHP_ENST00000405876.4_Missense_Mutation_p.A471G	p.A471G	NM_032300.4	NP_115676.1	Q9BT92	TCHP_HUMAN			12	1626	+			471			Glu-rich.|Interaction with keratin proteins.			Missense_Mutation	SNP	ENST00000312777.5	37	c.1412C>G	CCDS9137.1	.	.	.	.	.	.	.	.	.	.	C	9.577	1.122498	0.20877	.	.	ENSG00000139437	ENST00000405876;ENST00000312777;ENST00000551627	T;T	0.11495	2.77;2.77	5.84	4.88	0.63580	.	0.628147	0.15755	N	0.246260	T	0.12689	0.0308	L	0.57536	1.79	0.09310	N	1	B	0.27625	0.183	B	0.27887	0.084	T	0.07751	-1.0756	10	0.35671	T	0.21	3.0304	10.4624	0.44587	0.2389:0.7611:0.0:0.0	.	471	Q9BT92	TCHP_HUMAN	G	471;471;115	ENSP00000384520:A471G;ENSP00000324404:A471G	ENSP00000324404:A471G	A	+	2	0	TCHP	108837682	0.010000	0.17322	0.131000	0.22000	0.309000	0.27889	2.379000	0.44318	2.763000	0.94921	0.650000	0.86243	GCC		0.637	TCHP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403289.1	NM_032300		25	21	0	0	0	0.729181	0	25	21					G	110353299	C	G	110353299	3	3	427	1	0	0	0	0	1	0	0	0	15699	739	26	4	1454	4	TCHP	12	110353299	Missense_Mutation	SNP	C	TCGA-FY-A3I5-01B-11D-A21Z-08		110353299	23498596	14	8724											
DAAM1	23002	broad.mit.edu	37	chr14	59797945	59797945	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagggccgtctgtgcttcaAtcccaggtggaccctcgcct	12	14	2	1			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr14:59797945A>G	ENST00000395125.1	+	13	1602	c.1579A>G	c.(1579-1581)Atc>Gtc	p.I527V	DAAM1_ENST00000351081.1_Missense_Mutation_p.I527V|DAAM1_ENST00000360909.3_Missense_Mutation_p.I527V	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	527					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CTGTGCTTCAATCCCAGGTGG	0.502																																						ENST00000395125.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(1579-1581)Atc>Gtc		dishevelled associated activator of morphogenesis 1							80	84	83					14																	59797945		2203	4300	6503	SO:0001583	missense	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59797945A>G	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.1579A>G	14.37:g.59797945A>G	ENSP00000378557:p.Ile527Val					DAAM1_ENST00000360909.3_Missense_Mutation_p.I527V|DAAM1_ENST00000351081.1_Missense_Mutation_p.I527V	p.I527V	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	13	1602	+			527					Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	c.1579A>G	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	A	0.190	-1.054264	0.01965	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	D;D;D	0.89875	-2.58;-2.58;-2.58	6.16	-9.04	0.00734	.	0.924034	0.09410	N	0.805961	T	0.69646	0.3134	N	0.03238	-0.38	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.59537	-0.7436	10	0.12766	T	0.61	.	13.8569	0.63534	0.6673:0.0888:0.2439:0.0	.	527;527	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	V	527	ENSP00000354162:I527V;ENSP00000247170:I527V;ENSP00000378557:I527V	ENSP00000247170:I527V	I	+	1	0	DAAM1	58867698	0.000000	0.05858	0.001000	0.08648	0.342000	0.28953	-0.873000	0.04214	-2.834000	0.00338	-2.125000	0.00346	ATC		0.502	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		17	179	0	0	0	0.500413	0	17	179					G	59797945	A	G	59797945	3	3	427	1	0	0	0	0	1	0	0	0	4215	101	4	3	1629	3	DAAM1	14	59797945	Missense_Mutation	SNP	A	TCGA-FY-A3I5-01B-11D-A21Z-08		59797945	47551595	15	8725											
C14orf174	161394	broad.mit.edu	37	chr14	77845094	77845094	+	Frame_Shift_Del	DEL	A	A	-													agctagagcaccgtgagcctAaaagaggaaagttgtcacta							TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr14:77845094delA	ENST00000216471.4	+	1	1619	c.1333delA	c.(1333-1335)aaafs	p.K445fs	TMED8_ENST00000216468.7_5'Flank|SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	445										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCGTGAGCCTAAAAGAGGAAA	0.383																																						ENST00000216471.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1333-1335)aafs		sterile alpha motif domain containing 15							72	69	70					14																	77845094		2203	4300	6503	SO:0001589	frameshift_variant	161394							g.chr14:77845094delA	AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"Sterile alpha motif (SAM) domain containing"	18631	protein-coding gene	gene with protein product			"family with sequence similarity 15, member A", "chromosome 14 open reading frame 174"	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.1333delA	14.37:g.77845094delA	ENSP00000216471:p.Lys445fs					SAMD15_ENST00000533095.2_Intron	p.K445fs	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN			1	1619	+			445					Q2M3P3	Frame_Shift_Del	DEL	ENST00000216471.4	37	c.1333delA	CCDS32126.1																																																																																				0.383	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860		35	40						35	40	---	---	---	---	-	77845094	A	-	77845094	7	5	427	1	0	1	0	1	0	0	0	0	1759	363	13	0	1335	0	C14orf174	14	77845094	Frame_Shift_Del	DEL	A	TCGA-FY-A3I5-01B-11D-A21Z-08	18047149	77845094	29504446	16	8726											
RBL2	5934	broad.mit.edu	37	chr16	53504454	53504454	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aggaacaactttgcaagtccCtggtcaagtggccattcaac	9	11	2	0	rs200383130		TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr16:53504454C>G	ENST00000262133.6	+	16	2542	c.2405C>G	c.(2404-2406)cCt>cGt	p.P802R	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Intron	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	802	Pocket; binds E1A.|Spacer.				chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TTGCAAGTCCCTGGTCAAGTG	0.552													C|||	1	0.000199681	0	0	5008	,	,		16756	0.001		0	False		,,,				2504	0					ENST00000262133.6																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2404-2406)cCt>cGt		retinoblastoma-like 2 (p130)							82	80	81					16																	53504454		2198	4300	6498	SO:0001583	missense	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53504454C>G	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.2405C>G	16.37:g.53504454C>G	ENSP00000262133:p.Pro802Arg					RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR	p.P802R	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN			16	2542	+			802			Pocket; binds E1A.|Spacer.		B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	37	c.2405C>G	CCDS10748.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	22.2	4.256061	0.80246	.	.	ENSG00000103479	ENST00000262133;ENST00000379935	D	0.91011	-2.77	5.7	5.7	0.88788	.	0.226336	0.45606	D	0.000341	D	0.88894	0.6561	N	0.08118	0	0.80722	D	1	D;P	0.64830	0.994;0.906	P;P	0.56278	0.795;0.621	D	0.91326	0.5086	10	0.72032	D	0.01	-8.073	19.8354	0.96655	0.0:1.0:0.0:0.0	.	512;802	E9PG04;Q08999	.;RBL2_HUMAN	R	802;512	ENSP00000262133:P802R	ENSP00000262133:P802R	P	+	2	0	RBL2	52061955	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	4.180000	0.58296	2.686000	0.91538	0.555000	0.69702	CCT		0.552	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		5	105	0	0	0	0.184627	0	5	105					G	53504454	C	G	53504454	3	3	427	1	0	0	0	0	1	0	0	0	13110	681	24	4	2467	4	RBL2	16	53504454	Missense_Mutation	SNP	C	TCGA-FY-A3I5-01B-11D-A21Z-08		53504454	36850299	17	8727											
WDR59	79726	broad.mit.edu	37	chr16	74990380	74990380	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaataagctcaccgaagccGcaaaatagtgtgcaaagctg	9	9	1	0	rs553308888		TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr16:74990380G>A	ENST00000262144.6	-	3	363	c.233C>T	c.(232-234)gCg>gTg	p.A78V	WDR59_ENST00000562331.1_5'UTR	NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	78										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CACCGAAGCCGCAAAATAGTG	0.488																																						ENST00000262144.6																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						c.(232-234)gCg>gTg		WD repeat domain 59							88	79	82					16																	74990380		2198	4300	6498	SO:0001583	missense	79726							g.chr16:74990380G>A	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"WD repeat domain containing"	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.233C>T	16.37:g.74990380G>A	ENSP00000262144:p.Ala78Val					WDR59_ENST00000562331.1_5'UTR	p.A78V	NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN			3	363	-			78					B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP	ENST00000262144.6	37	c.233C>T	CCDS32488.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939463	0.92526	.	.	ENSG00000103091	ENST00000262144;ENST00000536050	T	0.69175	-0.38	6.17	6.17	0.99709	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.70064	0.3181	N	0.16862	0.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.986	T	0.62272	-0.6889	10	0.11794	T	0.64	-14.4303	20.8794	0.99867	0.0:0.0:1.0:0.0	.	78;78	Q6PJI9-2;Q6PJI9	.;WDR59_HUMAN	V	78;57	ENSP00000262144:A78V	ENSP00000262144:A78V	A	-	2	0	WDR59	73547881	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.410000	0.97335	2.941000	0.99782	0.655000	0.94253	GCG		0.488	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		3	78	0	0	0	0.115264	0	3	78					A	74990380	G	A	74990380	3	1	427	1	0	0	0	0	1	0	0	0	17305	1087	38	1	2787	1	WDR59	16	74990380	Missense_Mutation	SNP	G	TCGA-FY-A3I5-01B-11D-A21Z-08	21485926	74990380	15364373	18	8728											
RUNDC1	146923	broad.mit.edu	37	chr17	41141502	41141502	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagtcaaagaacagttggttGagcaactgaaaactcagatc	10	7	2	4			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr17:41141502G>T	ENST00000361677.1	+	3	814	c.802G>T	c.(802-804)Gag>Tag	p.E268*		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	268										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		ACAGTTGGTTGAGCAACTGAA	0.493																																						ENST00000361677.1																			0				breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						c.(802-804)Gag>Tag		RUN domain containing 1							101	87	92					17																	41141502		2203	4300	6503	SO:0001587	stop_gained	146923							g.chr17:41141502G>T	AL831813	CCDS11448.1	17q21.31	2004-02-27				ENSG00000198863			25418	protein-coding gene	gene with protein product						12477932	Standard	NM_173079		Approved	DKFZp761H0421	uc002ici.1	Q96C34		ENST00000361677.1:c.802G>T	17.37:g.41141502G>T	ENSP00000354622:p.Glu268*						p.E268*	NM_173079.2	NP_775102.2	Q96C34	RUND1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	3	814	+		Breast(137;0.00499)	268					Q6Y2K8|Q8IXT9|Q8N3W1	Nonsense_Mutation	SNP	ENST00000361677.1	37	c.802G>T	CCDS11448.1	.	.	.	.	.	.	.	.	.	.	G	36	5.870953	0.97049	.	.	ENSG00000198863	ENST00000361677	.	.	.	5.35	5.35	0.76521	.	0.058843	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-28.8877	19.2405	0.93881	0.0:0.0:1.0:0.0	.	.	.	.	X	268	.	ENSP00000354622:E268X	E	+	1	0	RUNDC1	38395028	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.657000	0.98554	2.780000	0.95670	0.655000	0.94253	GAG		0.493	RUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452464.1	NM_173079		28	85	1	0	2.09667e-21	0.788014	2.516e-21	28	85					T	41141502	G	T	41141502	4	4	427	1	0	0	0	0	0	1	0	0	13742	1291	45	4	812	4	RUNDC1	17	41141502	Nonsense_Mutation	SNP	G	TCGA-FY-A3I5-01B-11D-A21Z-08		41141502	40053708	19	8729											
ZNF521	25925	broad.mit.edu	37	chr18	22805082	22805082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaaggttcgagagcacaCgttgcacttgtaattccctt	10	9	0	2			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr18:22805082C>T	ENST00000361524.3	-	4	2948	c.2800G>A	c.(2800-2802)Gtg>Atg	p.V934M	ZNF521_ENST00000538137.2_Missense_Mutation_p.V934M|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.V714M	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	934					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CGAGAGCACACGTTGCACTTG	0.507			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(2800-2802)Gtg>Atg		zinc finger protein 521							149	139	143					18																	22805082		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22805082C>T	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2800G>A	18.37:g.22805082C>T	ENSP00000354794:p.Val934Met					ZNF521_ENST00000584787.1_Missense_Mutation_p.V714M|ZNF521_ENST00000538137.2_Missense_Mutation_p.V934M	p.V934M	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	2948	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		934					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.2800G>A	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513941	0.27123	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.30182	1.54;1.54	5.97	5.97	0.96955	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.52141	0.1716	M	0.69185	2.1	0.38692	D	0.952789	D	0.76494	0.999	D	0.68765	0.96	T	0.54337	-0.8309	10	0.56958	D	0.05	-25.5564	13.6013	0.62020	0.0:0.9294:0.0:0.0706	.	934	Q96K83	ZN521_HUMAN	M	934;968;934	ENSP00000354794:V934M;ENSP00000382352:V934M	ENSP00000354794:V934M	V	-	1	0	ZNF521	21059080	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.828000	0.97474	0.655000	0.94253	GTG		0.507	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		22	106	0	0	0	0.667858	0	22	106					T	22805082	C	T	22805082	3	4	427	1	0	0	0	0	1	0	0	0	17962	536	19	1	1155	1	ZNF521	18	22805082	Missense_Mutation	SNP	C	TCGA-FY-A3I5-01B-11D-A21Z-08		22805082	55272166	20	8730											
DLGAP4	22839	broad.mit.edu	37	chr20	35125295	35125295	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaactcgtcggacagcctGgacagcagtacccgaccgcc	11	16	0	0			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr20:35125295G>A	ENST00000373907.2	+	7	2035	c.1836G>A	c.(1834-1836)ctG>ctA	p.L612L	DLGAP4_ENST00000340491.4_Silent_p.L73L|DLGAP4_ENST00000373913.3_Silent_p.L612L|DLGAP4_ENST00000339266.5_Silent_p.L612L|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000401952.2_Silent_p.L612L			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	612					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CGGACAGCCTGGACAGCAGTA	0.632																																						ENST00000373913.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37						c.(1834-1836)ctG>ctA		discs, large (Drosophila) homolog-associated protein 4							91	80	84					20																	35125295		2203	4300	6503	SO:0001819	synonymous_variant	22839				cell-cell signaling	membrane	protein binding	g.chr20:35125295G>A	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.1836G>A	20.37:g.35125295G>A						DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000340491.4_Silent_p.L73L|DLGAP4_ENST00000401952.2_Silent_p.L612L|DLGAP4_ENST00000339266.5_Silent_p.L612L|DLGAP4_ENST00000373907.2_Silent_p.L612L	p.L612L			Q9Y2H0	DLGP4_HUMAN			8	2316	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	612					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Silent	SNP	ENST00000373907.2	37	c.1836G>A																																																																																					0.632	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		3	96	0	0	0	0.115264	0	3	96					A	35125295	G	A	35125295	2	1	427	1	0	0	0	0	0	0	0	1	4562	1335	47	2		2	DLGAP4	20	35125295	Silent	SNP	G	TCGA-FY-A3I5-01B-11D-A21Z-08		35125295	27900225	21	8731											
DMC1	11144	broad.mit.edu	37	chr22	38951410	38951410	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcaattccacctcctagtaActtactggaaatagaaagaa	5	9	1	2			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr22:38951410A>G	ENST00000216024.2	-	6	607	c.331T>C	c.(331-333)Tta>Cta	p.L111L	DMC1_ENST00000428462.2_Silent_p.L111L	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	111					female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome (GO:0005694)|chromosome, telomeric region (GO:0000781)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					CCTCCTAGTAACTTACTGGAA	0.303								Homologous recombination																														ENST00000216024.2																			0				large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(331-333)Tta>Cta	Homologous recombination	DNA meiotic recombinase 1							58	60	59					22																	38951410		2202	4285	6487	SO:0001819	synonymous_variant	11144				reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding	g.chr22:38951410A>G	D63882	CCDS13973.1, CCDS63477.1	22q13.1	2013-05-02	2013-05-02		ENSG00000100206	ENSG00000100206			2927	protein-coding gene	gene with protein product		602721	"DMC1 (dosage suppressor of mck1, yeast homolog) meiosis-specific homologous recombination", "DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast)"			8602360, 8590282, 17541404	Standard	NM_007068		Approved	LIM15	uc003avz.2	Q14565	OTTHUMG00000151088	ENST00000216024.2:c.331T>C	22.37:g.38951410A>G						DMC1_ENST00000428462.2_Silent_p.L111L	p.L111L	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN			6	607	-	Melanoma(58;0.0286)		111					A8K9A2|B4DMW6|Q08AI1|Q99498|Q9UH11	Silent	SNP	ENST00000216024.2	37	c.331T>C	CCDS13973.1																																																																																				0.303	DMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321246.2	NM_007068		4	106	0	0	0	0.184627	0	4	106					G	38951410	A	G	38951410	2	3	427	1	0	0	0	0	0	0	0	1	4579	40	2	3		3	DMC1	22	38951410	Silent	SNP	A	TCGA-FY-A3I5-01B-11D-A21Z-08		38951410	12353156	22	8732											
GTPBP1	9567	broad.mit.edu	37	chr22	39112749	39112749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatggccgaggctttgcccGccagaaactcttccgccaca	9	16	1	1			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr22:39112749G>A	ENST00000216044.5	+	4	811	c.578G>A	c.(577-579)cGc>cAc	p.R193H		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	193	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|immune response (GO:0006955)|positive regulation of mRNA catabolic process (GO:0061014)|signal transduction (GO:0007165)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.R193H(1)		endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					GGCTTTGCCCGCCAGAAACTC	0.557																																						ENST00000216044.5																			1	Substitution - Missense(1)	p.R193H(1)	lung(1)	endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18						c.(577-579)cGc>cAc		GTP binding protein 1							57	55	56					22																	39112749		2203	4300	6503	SO:0001583	missense	9567				immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity	g.chr22:39112749G>A	U87964	CCDS13977.2	22q13.1	2008-07-01			ENSG00000100226	ENSG00000100226			4669	protein-coding gene	gene with protein product		602245				9070279	Standard	XM_005261857		Approved	GP-1, HSPC018	uc003awg.3	O00178	OTTHUMG00000151002	ENST00000216044.5:c.578G>A	22.37:g.39112749G>A	ENSP00000216044:p.Arg193His						p.R193H	NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN			4	811	+	Melanoma(58;0.04)		193					Q6IC67	Missense_Mutation	SNP	ENST00000216044.5	37	c.578G>A	CCDS13977.2	.	.	.	.	.	.	.	.	.	.	G	34	5.341713	0.95783	.	.	ENSG00000100226	ENST00000216044;ENST00000484657	T;T	0.70986	-0.53;-0.53	5.25	5.25	0.73442	Protein synthesis factor, GTP-binding (1);	0.053428	0.85682	D	0.000000	D	0.90120	0.6913	H	0.97214	3.96	0.80722	D	1	D	0.71674	0.998	D	0.72338	0.977	D	0.93653	0.6975	10	0.87932	D	0	.	18.8294	0.92132	0.0:0.0:1.0:0.0	.	193	O00178	GTPB1_HUMAN	H	193;112	ENSP00000216044:R193H;ENSP00000442881:R112H	ENSP00000216044:R193H	R	+	2	0	GTPBP1	37442695	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.747000	0.98863	2.436000	0.82500	0.551000	0.68910	CGC		0.557	GTPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075532.1	NM_004286		3	55	0	0	0	0.115264	0	3	55					A	39112749	G	A	39112749	3	1	427	1	0	0	0	0	1	0	0	0	6878	1087	38	1	592	1	GTPBP1	22	39112749	Missense_Mutation	SNP	G	TCGA-FY-A3I5-01B-11D-A21Z-08	161339	39112749	12191817	23	8733											
PHKA1	5255	broad.mit.edu	37	chrX	71864258	71864258	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atacgagctggttgtactctGatggggtatacctcagcaat	11	8	2	1			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chrX:71864258G>A	ENST00000373542.4	-	14	1572	c.1413C>T	c.(1411-1413)atC>atT	p.I471I	PHKA1_ENST00000339490.3_Silent_p.I471I|PHKA1_ENST00000373539.3_Silent_p.I471I|PHKA1_ENST00000541944.1_Silent_p.I471I|PHKA1_ENST00000373545.3_Silent_p.I471I	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	471					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GTTGTACTCTGATGGGGTATA	0.433																																						ENST00000373545.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1411-1413)atC>atT		phosphorylase kinase, alpha 1 (muscle)							181	128	146					X																	71864258		2203	4300	6503	SO:0001819	synonymous_variant	5255				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:71864258G>A		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.1413C>T	X.37:g.71864258G>A						PHKA1_ENST00000541944.1_Silent_p.I471I|PHKA1_ENST00000373539.3_Silent_p.I471I|PHKA1_ENST00000373542.4_Silent_p.I471I|PHKA1_ENST00000339490.3_Silent_p.I471I	p.I471I			P46020	KPB1_HUMAN			14	1851	-	Renal(35;0.156)		471					B7ZL05|B7ZL07|Q2M3D7	Silent	SNP	ENST00000373542.4	37	c.1413C>T	CCDS14421.1																																																																																				0.433	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			18	51	0	0	0	0.575678	0	18	51					A	71864258	G	A	71864258	2	1	427	1	0	0	0	0	0	0	0	1	11843	1280	45	2		2	PHKA1	23	71864258	Silent	SNP	G	TCGA-FY-A3I5-01B-11D-A21Z-08		71864258	83406302	24	8734											
C1orf210	149466	broad.mit.edu	37	chr1	43748745	43748745	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgggccaggggccacagcaGacgctgtggggagctccgaa	17	12	0	1			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr1:43748745G>A	ENST00000523677.1	-	3	286	c.53C>T	c.(52-54)tCt>tTt	p.S18F	C1orf210_ENST00000423420.1_Missense_Mutation_p.S18F	NM_001164829.1|NM_182517.2	NP_001158301.1|NP_872323.1	Q8IVY1	CA210_HUMAN	chromosome 1 open reading frame 210	18						integral component of membrane (GO:0016021)				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGCCACAGCAGACGCTGTGGG	0.627																																						ENST00000523677.1																			0				breast(1)	1						c.(52-54)tCt>tTt		chromosome 1 open reading frame 210							27	29	29					1																	43748745		2203	4300	6503	SO:0001583	missense	149466					integral to membrane		g.chr1:43748745G>A	BC041633	CCDS481.1	1p34.2	2006-03-22			ENSG00000253313	ENSG00000253313			28755	protein-coding gene	gene with protein product						12477932	Standard	NM_182517		Approved	MGC52423	uc001cit.4	Q8IVY1	OTTHUMG00000007289	ENST00000523677.1:c.53C>T	1.37:g.43748745G>A	ENSP00000430918:p.Ser18Phe					C1orf210_ENST00000423420.1_Missense_Mutation_p.S18F	p.S18F	NM_001164829.1|NM_182517.2	NP_001158301.1|NP_872323.1	Q8IVY1	CA210_HUMAN			3	286	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	18					D3DPX2	Missense_Mutation	SNP	ENST00000523677.1	37	c.53C>T	CCDS481.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646650	0.67358	.	.	ENSG00000253313	ENST00000523677;ENST00000423420	T;T	0.49139	0.79;0.79	4.96	4.96	0.65561	.	1.099970	0.06888	N	0.803735	T	0.67739	0.2925	M	0.70595	2.14	0.09310	N	1	D	0.55385	0.971	P	0.58454	0.839	T	0.59144	-0.7509	10	0.72032	D	0.01	.	15.5093	0.75766	0.0:0.0:1.0:0.0	.	18	Q8IVY1	CA210_HUMAN	F	18	ENSP00000430918:S18F;ENSP00000429399:S18F	ENSP00000429399:S18F	S	-	2	0	C1orf210	43521332	0.119000	0.22226	0.025000	0.17156	0.114000	0.19823	2.530000	0.45641	2.580000	0.87095	0.561000	0.74099	TCT		0.627	C1orf210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019035.2	NM_182517		5	21	0	0	0	1	0	5	21					A	43748745	G	A	43748745	3	1	428	1	0	0	0	0	1	0	0	0	2029	942	33	2	292	2	C1orf210	1	43748745	Missense_Mutation	SNP	G	TCGA-FY-A3NM-01A-11D-A21A-08		43748745	205501876	1	8735											
CENPF	1063	broad.mit.edu	37	chr1	214820611	214820611	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatctgacagtggaattggaGcagaagatccaagtgctaca	11	7	1	3			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr1:214820611G>A	ENST00000366955.3	+	13	7866	c.7698G>A	c.(7696-7698)gaG>gaA	p.E2566E		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2662	2 X 177 AA tandem repeats.|Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TGGAATTGGAGCAGAAGATCC	0.433																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(7696-7698)gaG>gaA		centromere protein F, 350/400kDa							82	80	80					1																	214820611		2203	4300	6503	SO:0001819	synonymous_variant	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214820611G>A	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.7698G>A	1.37:g.214820611G>A							p.E2566E	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	13	7866	+			2662			2 X 177 AA tandem repeats.|Sufficient for centromere localization.|Sufficient for self-association.		Q13171|Q13246|Q5VVM7	Silent	SNP	ENST00000366955.3	37	c.7698G>A	CCDS31023.1																																																																																				0.433	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		3	76	0	0	0	1	0	3	76					A	214820611	G	A	214820611	2	1	428	1	0	0	0	0	0	0	0	1	3231	962	34	2		2	CENPF	1	214820611	Silent	SNP	G	TCGA-FY-A3NM-01A-11D-A21A-08	171071866	214820611	34430010	2	8736											
ZNF678	339500	broad.mit.edu	37	chr1	227843206	227843206	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagtttttaaacagtgctctCacctaactagccataagaga	6	9	1	1			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr1:227843206C>T	ENST00000343776.5	+	4	1600	c.1255C>T	c.(1255-1257)Cac>Tac	p.H419Y	ZNF678_ENST00000608949.1_Intron|ZNF678_ENST00000397097.3_Missense_Mutation_p.H474Y	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	419					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				ACAGTGCTCTCACCTAACTAG	0.368																																						ENST00000343776.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24						c.(1255-1257)Cac>Tac		zinc finger protein 678							28	32	31					1																	227843206		2200	4290	6490	SO:0001583	missense	339500				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr1:227843206C>T	BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"Zinc fingers, C2H2-type", "-"	28652	protein-coding gene	gene with protein product	"hypothetical protein MGC42493"					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.1255C>T	1.37:g.227843206C>T	ENSP00000344828:p.His419Tyr					ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_Missense_Mutation_p.H474Y	p.H419Y			F5GXA7	F5GXA7_HUMAN			4	1600	+		Prostate(94;0.0885)	474					Q8IVQ9	Missense_Mutation	SNP	ENST00000343776.5	37	c.1255C>T		.	.	.	.	.	.	.	.	.	.	C	0.037	-1.303848	0.01353	.	.	ENSG00000181450	ENST00000343776;ENST00000397097	T;T	0.13089	2.62;2.62	1.5	-3.01	0.05463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05410	0.0143	N	0.16201	0.385	0.09310	N	1	B	0.30870	0.298	B	0.32090	0.14	T	0.38178	-0.9673	9	0.14252	T	0.57	.	1.3632	0.02196	0.203:0.4273:0.2021:0.1677	.	419	Q5SXM1	ZN678_HUMAN	Y	419;474	ENSP00000344828:H419Y;ENSP00000440403:H474Y	ENSP00000344828:H419Y	H	+	1	0	ZNF678	225909829	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-6.766000	0.00054	-1.378000	0.02120	-1.284000	0.01376	CAC		0.368	ZNF678-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000091976.2	NM_178549		3	57	0	0	0	1	0	3	57					T	227843206	C	T	227843206	3	4	428	1	0	0	0	0	1	0	0	0	18082	826	29	2	1434	2	ZNF678	1	227843206	Missense_Mutation	SNP	C	TCGA-FY-A3NM-01A-11D-A21A-08	13022595	227843206	21407415	3	8737											
DNMT3A	1788	broad.mit.edu	37	chr2	25497865	25497865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcttgctgatgtagtagGggtcccccgcctggaaggtg	16	10	0	1			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr2:25497865G>A	ENST00000264709.3	-	6	921	c.584C>T	c.(583-585)cCc>cTc	p.P195L	DNMT3A_ENST00000321117.5_Missense_Mutation_p.P195L	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	195					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATGTAGTAGGGGTCCCCCGC	0.701			"Mis, F, N, S"		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"Mis, F, N, S"	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(583-585)cCc>cTc		DNA (cytosine-5-)-methyltransferase 3 alpha							39	37	38					2																	25497865		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25497865G>A		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.584C>T	2.37:g.25497865G>A	ENSP00000264709:p.Pro195Leu					DNMT3A_ENST00000321117.5_Missense_Mutation_p.P195L	p.P195L	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			6	921	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		195					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.584C>T	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616222	0.66672	.	.	ENSG00000119772	ENST00000321117;ENST00000264709	D;D	0.94330	-3.4;-3.4	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000002	D	0.90758	0.7099	N	0.24115	0.695	0.80722	D	1	P	0.51791	0.948	P	0.48189	0.57	D	0.92179	0.5750	10	0.66056	D	0.02	-8.2269	16.3295	0.83004	0.0:0.0:1.0:0.0	.	195	Q9Y6K1	DNM3A_HUMAN	L	195	ENSP00000324375:P195L;ENSP00000264709:P195L	ENSP00000264709:P195L	P	-	2	0	DNMT3A	25351369	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.004000	0.93583	2.448000	0.82819	0.561000	0.74099	CCC		0.701	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		8	16	0	0	0	1	0	8	16					A	25497865	G	A	25497865	3	1	428	1	0	0	0	0	1	0	0	0	4676	1232	43	2	2306	2	DNMT3A	2	25497865	Missense_Mutation	SNP	G	TCGA-FY-A3NM-01A-11D-A21A-08		25497865	217701508	4	8738											
EVX2	344191	broad.mit.edu	37	chr2	176944986	176944988	+	In_Frame_Del	DEL	CCG	CCG	-													ctcccccggccccggcgcccCcgccgccgccgccaccacca							TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr2:176944986_176944988delCCG	ENST00000308618.4	-	3	1414_1416	c.1278_1280delCGG	c.(1276-1281)ggcggg>ggg	p.426_427GG>G		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	426	Poly-Gly.				limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		Cccggcgcccccgccgccgccgc	0.783																																						ENST00000308618.4																			0				kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16						c.(1276-1281)ggg>gg		even-skipped homeobox 2																																				SO:0001651	inframe_deletion	344191					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176944986_176944988delCCG		CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"Homeoboxes / ANTP class : HOXL subclass"	3507	protein-coding gene	gene with protein product		142991	"eve, even-skipped homeobox homolog 2 (Drosophila)"			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.1278_1280delCGG	2.37:g.176944995_176944997delCCG	ENSP00000312385:p.Gly428del						p.GG426del	NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)	3	1414_1416	-			426			Poly-Gly.			In_Frame_Del	DEL	ENST00000308618.4	37	c.1278_1280delCGG	CCDS33333.1																																																																																				0.783	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359252.1			2	4						2	4	---	---	---	---	-	176944988	CCG	-	176944986	7	5	428	1	0	1	0	1	0	0	0	0	5295	623	22	0	152	0	EVX2	2	176944986	In_Frame_Del	DEL	CCG	TCGA-FY-A3NM-01A-11D-A21A-08	151447121	176944986	66254387	5	8739											
C3orf19	51244	broad.mit.edu	37	chr3	14706561	14706561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacgtggactctttggggcGttcccggcgctgtatgagaa	14	9	1	1			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr3:14706561G>A	ENST00000383794.3	+	6	585	c.512G>A	c.(511-513)cGt>cAt	p.R171H	CCDC174_ENST00000303688.7_Missense_Mutation_p.R171H	NM_016474.4	NP_057558.3	Q6PII3	CC174_HUMAN	coiled-coil domain containing 174	171						cytoplasm (GO:0005737)|nucleus (GO:0005634)											TCTTTGGGGCGTTCCCGGCGC	0.473																																						ENST00000383794.3																			0											c.(511-513)cGt>cAt		coiled-coil domain containing 174							169	163	165					3																	14706561		2203	4300	6503	SO:0001583	missense	51244							g.chr3:14706561G>A	AF151046	CCDS2620.2	3p25.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000154781	ENSG00000154781			28033	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 19"	C3orf19		11042152	Standard	NM_016474		Approved	FLJ33839	uc003byw.3	Q6PII3	OTTHUMG00000129837	ENST00000383794.3:c.512G>A	3.37:g.14706561G>A	ENSP00000373304:p.Arg171His					CCDC174_ENST00000303688.7_Missense_Mutation_p.R171H	p.R171H	NM_016474.4	NP_057558.3					6	585	+								Q96CS5	Missense_Mutation	SNP	ENST00000383794.3	37	c.512G>A	CCDS2620.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.29|19.29	3.799752|3.799752	0.70567|0.70567	.|.	.|.	ENSG00000154781|ENSG00000154781	ENST00000383794;ENST00000303688|ENST00000285042	T;T|.	0.72505|.	-0.66;0.03|.	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	0.146815|.	0.45606|.	D|.	0.000344|.	D|D	0.83857|0.83857	0.5345|0.5345	M|M	0.89214|0.89214	3.015|3.015	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.83275|.	0.996|.	D|D	0.87153|0.87153	0.2210|0.2210	10|6	0.72032|0.66056	D|D	0.01|0.02	-12.0105|-12.0105	17.2927|17.2927	0.87162|0.87162	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	171|.	Q6PII3|.	CC019_HUMAN|.	H|I	171|76	ENSP00000373304:R171H;ENSP00000302344:R171H|.	ENSP00000302344:R171H|ENSP00000285042:V76I	R|V	+|+	2|1	0|0	C3orf19|C3orf19	14681565|14681565	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.833000|0.833000	0.47200|0.47200	7.196000|7.196000	0.77805|0.77805	2.374000|2.374000	0.81015|0.81015	0.591000|0.591000	0.81541|0.81541	CGT|GTT		0.473	CCDC174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252077.2	NM_016474		4	173	0	0	0	1	0	4	173					A	14706561	G	A	14706561	3	1	428	1	0	0	0	0	1	0	0	0	2212	1145	40	1	534	1	C3orf19	3	14706561	Missense_Mutation	SNP	G	TCGA-FY-A3NM-01A-11D-A21A-08		14706561	183315869	6	8740											
CNGA1	1259	broad.mit.edu	37	chr4	47939187	47939187	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactgtttttttgttggtccAcaggtagtcaaaccatttaa	7	7	1	0	rs200583020		TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr4:47939187A>G	ENST00000514170.1	-	11	1643	c.1324T>C	c.(1324-1326)Tgg>Cgg	p.W442R	CNGA1_ENST00000544810.1_Missense_Mutation_p.W442R|CNGA1_ENST00000420489.2_Missense_Mutation_p.W442R|CNGA1_ENST00000402813.3_Missense_Mutation_p.W511R|CNGA1_ENST00000358519.4_Missense_Mutation_p.W442R			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	442					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TTGTTGGTCCACAGGTAGTCA	0.328																																						ENST00000402813.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						c.(1531-1533)Tgg>Cgg		cyclic nucleotide gated channel alpha 1							142	135	137					4																	47939187		1858	4092	5950	SO:0001583	missense	1259				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	g.chr4:47939187A>G	M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.1324T>C	4.37:g.47939187A>G	ENSP00000426862:p.Trp442Arg					CNGA1_ENST00000358519.4_Missense_Mutation_p.W442R|CNGA1_ENST00000420489.2_Missense_Mutation_p.W442R|CNGA1_ENST00000544810.1_Missense_Mutation_p.W442R|CNGA1_ENST00000514170.1_Missense_Mutation_p.W442R	p.W511R			P29973	CNGA1_HUMAN			10	1673	-			442					A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Missense_Mutation	SNP	ENST00000514170.1	37	c.1531T>C	CCDS43226.1	.	.	.	.	.	.	.	.	.	.	A	14.74	2.626584	0.46840	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489	D;D;D;D;D	0.97089	-4.24;-4.24;-4.24;-4.24;-4.24	5.22	5.22	0.72569	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.98188	0.9401	M	0.93763	3.455	0.58432	D	0.999999	D;D	0.54964	0.969;0.969	P;P	0.51297	0.665;0.665	D	0.98911	1.0780	10	0.66056	D	0.02	.	15.1249	0.72475	1.0:0.0:0.0:0.0	.	442;442	Q4W5E3;P29973	.;CNGA1_HUMAN	R	511;442;442;442;442	ENSP00000384264:W511R;ENSP00000426862:W442R;ENSP00000443401:W442R;ENSP00000351320:W442R;ENSP00000389881:W442R	ENSP00000351320:W442R	W	-	1	0	CNGA1	47633944	1.000000	0.71417	0.994000	0.49952	0.812000	0.45895	8.962000	0.93254	1.971000	0.57363	0.402000	0.26972	TGG		0.328	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087		5	122	0	0	0	1	0	5	122					G	47939187	A	G	47939187	3	3	428	1	0	0	0	0	1	0	0	0	3596	159	6	3	752	3	CNGA1	4	47939187	Missense_Mutation	SNP	A	TCGA-FY-A3NM-01A-11D-A21A-08		47939187	143215089	7	8741											
NPFFR2	10886	broad.mit.edu	37	chr4	73013276	73013276	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcatttatggtttcttcaAcgagaatttccgccgtggtt	8	9	3	1			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr4:73013276A>G	ENST00000308744.6	+	4	1414	c.1316A>G	c.(1315-1317)aAc>aGc	p.N439S	NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.N337S|NPFFR2_ENST00000395999.1_Missense_Mutation_p.N340S	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	439					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)			GGTTTCTTCAACGAGAATTTC	0.453																																						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.(1315-1317)aAc>aGc		neuropeptide FF receptor 2							85	87	86					4																	73013276		2203	4300	6503	SO:0001583	missense	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:73013276A>G	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.1316A>G	4.37:g.73013276A>G	ENSP00000307822:p.Asn439Ser					NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.N337S|NPFFR2_ENST00000395999.1_Missense_Mutation_p.N340S	p.N439S	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		4	1414	+			439					Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	c.1316A>G	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	A	15.82	2.946377	0.53079	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.39997	1.05;1.05;1.05	5.83	5.83	0.93111	.	0.331540	0.25948	N	0.027278	T	0.64789	0.2630	M	0.74467	2.265	0.80722	D	1	D;D	0.64830	0.994;0.974	D;P	0.69824	0.966;0.878	T	0.66830	-0.5824	10	0.54805	T	0.06	.	15.8582	0.79000	1.0:0.0:0.0:0.0	.	340;439	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	S	439;340;337	ENSP00000307822:N439S;ENSP00000379321:N340S;ENSP00000351599:N337S	ENSP00000307822:N439S	N	+	2	0	NPFFR2	73232140	1.000000	0.71417	1.000000	0.80357	0.003000	0.03518	9.195000	0.94971	2.225000	0.72522	0.533000	0.62120	AAC		0.453	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		24	65	0	0	0	1	0	24	65					G	73013276	A	G	73013276	3	3	428	1	0	0	0	0	1	0	0	0	10578	43	2	3	1336	3	NPFFR2	4	73013276	Missense_Mutation	SNP	A	TCGA-FY-A3NM-01A-11D-A21A-08	25074089	73013276	118141000	8	8742											
SLC26A8	116369	broad.mit.edu	37	chr6	35923195	35923195	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggcacttggtcttcggatgCagtttggcttgtgttcatgc	13	8	2	0			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr6:35923195C>G	ENST00000490799.1	-	17	2319	c.1966G>C	c.(1966-1968)Gca>Cca	p.A656P	SLC26A8_ENST00000394602.2_Missense_Mutation_p.A551P|SLC26A8_ENST00000355574.2_Missense_Mutation_p.A656P	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TCTTCGGATGCAGTTTGGCTT	0.443																																						ENST00000490799.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						c.(1966-1968)Gca>Cca		solute carrier family 26 (anion exchanger), member 8							256	240	245					6																	35923195		2203	4300	6503	SO:0001583	missense	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35923195C>G	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"Solute carriers"	14468	protein-coding gene	gene with protein product		608480	"solute carrier family 26, member 8"			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.1966G>C	6.37:g.35923195C>G	ENSP00000417638:p.Ala656Pro					SLC26A8_ENST00000394602.2_Missense_Mutation_p.A551P|SLC26A8_ENST00000355574.2_Missense_Mutation_p.A656P	p.A656P	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN			17	2319	-			656			STAS.			Missense_Mutation	SNP	ENST00000490799.1	37	c.1966G>C	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	C	1.806	-0.475827	0.04414	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.94931	-3.24;-3.56;-3.24	5.01	-10.0	0.00425	Sulphate transporter/antisigma-factor antagonist STAS (3);	3.870550	0.00682	N	0.000687	T	0.69833	0.3155	N	0.19112	0.55	0.09310	N	1	B;B;P	0.34757	0.301;0.446;0.467	B;B;B	0.33799	0.089;0.17;0.154	T	0.67673	-0.5610	10	0.30854	T	0.27	.	4.8689	0.13622	0.3629:0.3926:0.069:0.1755	.	656;551;238	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	P	656;551;656	ENSP00000417638:A656P;ENSP00000378100:A551P;ENSP00000347778:A656P	ENSP00000347778:A656P	A	-	1	0	SLC26A8	36031173	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.799000	0.00762	-6.264000	0.00005	-2.850000	0.00103	GCA		0.443	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			49	75	0	0	0	1	0	49	75					G	35923195	C	G	35923195	3	3	428	1	0	0	0	0	1	0	0	0	14523	710	25	4	962	4	SLC26A8	6	35923195	Missense_Mutation	SNP	C	TCGA-FY-A3NM-01A-11D-A21A-08		35923195	135191872	9	8743											
HEY2	23493	broad.mit.edu	37	chr6	126080274	126080274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttttaggctactttgacGcacacgctcttgccatggac	8	13	1	1			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr6:126080274G>A	ENST00000368364.3	+	5	537	c.340G>A	c.(340-342)Gca>Aca	p.A114T	HEY2_ENST00000368365.1_Missense_Mutation_p.A68T	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	114	Transcriptional repression and interaction with NCOR1 and SIN3A. {ECO:0000250}.				anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.A114P(1)|p.A114T(1)		breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		CTACTTTGACGCACACGCTCT	0.527																																						ENST00000368364.3																			2	Substitution - Missense(2)	p.A114P(1)|p.A114T(1)	large_intestine(1)|lung(1)	breast(1)|large_intestine(7)|lung(5)|prostate(1)	14						c.(340-342)Gca>Aca		hes-related family bHLH transcription factor with YRPW motif 2							127	119	122					6																	126080274		2203	4300	6503	SO:0001583	missense	23493				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding	g.chr6:126080274G>A	AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"Basic helix-loop-helix proteins"	4881	protein-coding gene	gene with protein product		604674	"hairy/enhancer-of-split related with YRPW motif 2"			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.340G>A	6.37:g.126080274G>A	ENSP00000357348:p.Ala114Thr					HEY2_ENST00000368365.1_Missense_Mutation_p.A68T	p.A114T	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)	5	537	+			114			Transcriptional repression and interaction with NCOR1 and SIN3A (By similarity).			Missense_Mutation	SNP	ENST00000368364.3	37	c.340G>A	CCDS5131.1	.	.	.	.	.	.	.	.	.	.	G	36	5.789287	0.96945	.	.	ENSG00000135547	ENST00000368365;ENST00000368364	T;T	0.41400	1.0;1.0	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000001	T	0.23727	0.0574	L	0.42581	1.335	0.80722	D	1	B	0.28584	0.216	B	0.26517	0.07	T	0.06427	-1.0827	10	0.18276	T	0.48	-8.2687	19.5573	0.95357	0.0:0.0:1.0:0.0	.	114	Q9UBP5	HEY2_HUMAN	T	68;114	ENSP00000357349:A68T;ENSP00000357348:A114T	ENSP00000357348:A114T	A	+	1	0	HEY2	126121967	1.000000	0.71417	0.872000	0.34217	0.948000	0.59901	7.917000	0.87498	2.629000	0.89072	0.561000	0.74099	GCA		0.527	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042077.1			3	74	0	0	0	1	0	3	74					A	126080274	G	A	126080274	3	1	428	1	0	0	0	0	1	0	0	0	7079	1087	38	1	358	1	HEY2	6	126080274	Missense_Mutation	SNP	G	TCGA-FY-A3NM-01A-11D-A21A-08	90157079	126080274	45034793	10	8744											
UBE2W	55284	broad.mit.edu	37	chr8	74717937	74717937	+	Frame_Shift_Del	DEL	A	A	-													cttgttacatgttcgcacatAaaaagaattatccggtggtc							TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr8:74717937delA	ENST00000602593.1	-	5	443	c.391delT	c.(391-393)tatfs	p.Y131fs	UBE2W_ENST00000419880.3_Frame_Shift_Del_p.Y171fs|RP11-463D19.2_ENST00000358757.5_Frame_Shift_Del_p.Y131fs|UBE2W_ENST00000517608.1_Frame_Shift_Del_p.Y160fs|UBE2W_ENST00000602969.1_Frame_Shift_Del_p.Y142fs|UBE2W_ENST00000453587.2_Frame_Shift_Del_p.Y131fs			Q96B02	UBE2W_HUMAN	ubiquitin-conjugating enzyme E2W (putative)	131					cellular response to misfolded protein (GO:0071218)|DNA repair (GO:0006281)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K11-linked ubiquitination (GO:0070979)|protein monoubiquitination (GO:0006513)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|lung(1)	2	Breast(64;0.0311)		Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)			GTTCGCACATAAAAAGAATTA	0.299																																					Pancreas(14;490 592 20090 21022 23311)	ENST00000517608.1																			0				kidney(1)|lung(1)	2						c.(478-480)atfs		ubiquitin-conjugating enzyme E2W (putative)							78	69	72					8																	74717937		1793	4058	5851	SO:0001589	frameshift_variant	55284				protein K11-linked ubiquitination|protein monoubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr8:74717937delA	AK001873	CCDS47874.1, CCDS47875.1, CCDS47874.2, CCDS47875.2	8q21.11	2010-07-07			ENSG00000104343	ENSG00000104343		"Ubiquitin-conjugating enzymes E2"	25616	protein-coding gene	gene with protein product		614277				12477932	Standard	NM_001001481		Approved	FLJ11011	uc003xzu.4	Q96B02	OTTHUMG00000164517	ENST00000602593.1:c.391delT	8.37:g.74717937delA	ENSP00000473561:p.Tyr131fs					UBE2W_ENST00000453587.2_Frame_Shift_Del_p.Y131fs|UBE2W_ENST00000602969.1_Frame_Shift_Del_p.Y142fs|RP11-463D19.2_ENST00000358757.5_Frame_Shift_Del_p.Y131fs|UBE2W_ENST00000602593.1_Frame_Shift_Del_p.Y131fs|UBE2W_ENST00000419880.3_Frame_Shift_Del_p.Y171fs	p.Y160fs			Q96B02	UBE2W_HUMAN	Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)		5	478	-	Breast(64;0.0311)		131					B4DIV1|Q1XBE0|Q9H823|Q9HAG6|Q9NV07	Frame_Shift_Del	DEL	ENST00000602593.1	37	c.478delT																																																																																					0.299	UBE2W-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001481		2	4						2	4	---	---	---	---	-	74717937	A	-	74717937	7	5	428	1	0	1	0	1	0	0	0	0	16874	362	13	0	72	0	UBE2W	8	74717937	Frame_Shift_Del	DEL	A	TCGA-FY-A3NM-01A-11D-A21A-08		74717937	71646085	11	8745											
PKHD1L1	93035	broad.mit.edu	37	chr8	110457580	110457580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctctgggaaacctgactGtcagcagccccccagtagca	11	14	2	1			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr8:110457580G>A	ENST00000378402.5	+	38	5586	c.5482G>A	c.(5482-5484)Gtc>Atc	p.V1828I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1828	IPT/TIG 10.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AAACCTGACTGTCAGCAGCCC	0.493										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(5482-5484)Gtc>Atc		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							83	84	84					8																	110457580		1952	4142	6094	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110457580G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5482G>A	8.37:g.110457580G>A	ENSP00000367655:p.Val1828Ile	HNSCC(38;0.096)					p.V1828I	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		38	5586	+			1828			IPT/TIG 10.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.5482G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	2.362	-0.346275	0.05208	.	.	ENSG00000205038	ENST00000378402	D	0.86230	-2.09	6.03	-2.74	0.05932	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.461140	0.21276	N	0.077233	T	0.75831	0.3903	L	0.38175	1.15	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.60281	-0.7294	10	0.35671	T	0.21	.	6.686	0.23146	0.3221:0.3311:0.3467:0.0	.	1828	Q86WI1	PKHL1_HUMAN	I	1828	ENSP00000367655:V1828I	ENSP00000367655:V1828I	V	+	1	0	PKHD1L1	110526756	0.594000	0.26849	0.004000	0.12327	0.148000	0.21650	0.782000	0.26788	-0.627000	0.05589	-0.878000	0.02970	GTC		0.493	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		4	76	0	0	0	1	0	4	76					A	110457580	G	A	110457580	3	1	428	1	0	0	0	0	1	0	0	0	11972	1377	48	2	5632	2	PKHD1L1	8	110457580	Missense_Mutation	SNP	G	TCGA-FY-A3NM-01A-11D-A21A-08	35739643	110457580	35906442	12	8746											
HSF1	3297	broad.mit.edu	37	chr8	145515453	145515454	+	Frame_Shift_Ins	INS	-	-	GG													ctcgagatggatctgcccgtINSgggccccggcgcggcggggc							TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr8:145515453_145515454insGG	ENST00000528838.1	+	1	174_175	c.14_15insGG	c.(13-18)gtgggcfs	p.VG5fs	BOP1_ENST00000529231.1_5'Flank|BOP1_ENST00000307404.5_5'Flank	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	5					cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234)	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)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-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;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			GATCTGCCCGTgggccccggcg	0.728																																						ENST00000528838.1																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11						c.(13-15)gggfs		heat shock transcription factor 1																																				SO:0001589	frameshift_variant	3297					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:145515453_145515454insGG	M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604	ENST00000528838.1:c.15_16dupGG	8.37:g.145515454_145515455dupGG	ENSP00000431512:p.Val5fs						p.G5fs	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)		1	174_175	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		5					A8K4L0|A8MW26|Q53XT4	Frame_Shift_Ins	INS	ENST00000528838.1	37	c.14_15insGG	CCDS6419.1																																																																																				0.728	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382053.1	NM_005526		2	4						2	4	---	---	---	---	GG	145515454	-	GG	145515453	7	5	428	1	0	1	1	0	0	0	0	0	7395	1696	59	0	16	0	HSF1	8	145515453	Frame_Shift_Ins	INS	-	TCGA-FY-A3NM-01A-11D-A21A-08	35057873	145515453	848569	13	8747											
CNTLN	54875	broad.mit.edu	37	chr9	17236415	17236415	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgttctacaggacactaaGgagtgtgtacagaacaaaga	10	7	1	2			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr9:17236415G>A	ENST00000380647.3	+	5	762	c.678G>A	c.(676-678)aaG>aaA	p.K226K	CNTLN_ENST00000380641.4_Silent_p.K226K|CNTLN_ENST00000262360.5_Silent_p.K226K|CNTLN_ENST00000425824.1_Silent_p.K226K			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	226					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)		AGGACACTAAGGAGTGTGTAC	0.368																																						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.(676-678)aaG>aaA		centlein, centrosomal protein							83	83	83					9																	17236415		1821	4081	5902	SO:0001819	synonymous_variant	54875					centriole|membrane	two-component sensor activity	g.chr9:17236415G>A	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.678G>A	9.37:g.17236415G>A						CNTLN_ENST00000425824.1_Silent_p.K226K|CNTLN_ENST00000380641.4_Silent_p.K226K|CNTLN_ENST00000262360.5_Silent_p.K226K	p.K226K			Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	5	762	+			226					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Silent	SNP	ENST00000380647.3	37	c.678G>A	CCDS43789.1																																																																																				0.368	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		11	45	0	0	0	1	0	11	45					A	17236415	G	A	17236415	2	1	428	1	0	0	0	0	0	0	0	1	3639	991	35	2		2	CNTLN	9	17236415	Silent	SNP	G	TCGA-FY-A3NM-01A-11D-A21A-08		17236415	123977016	14	8748											
SLC26A10	65012	broad.mit.edu	37	chr12	58016597	58016597	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caacccctcctccccaacctGgctgagctgcccaggattct	7	19	1	1			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr12:58016597G>T	ENST00000320442.4	+	6	1130	c.819G>T	c.(817-819)ctG>ctT	p.L273L	SLC26A10_ENST00000379218.2_Silent_p.L273L	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	273						integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					TCCCCAACCTGGCTGAGCTGC	0.567																																						ENST00000379218.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19						c.(817-819)ctG>ctT		solute carrier family 26, member 10							92	78	83					12																	58016597		2203	4300	6503	SO:0001819	synonymous_variant	65012					integral to membrane	antiporter activity	g.chr12:58016597G>T		CCDS8949.2	12q13	2013-07-18			ENSG00000135502	ENSG00000135502		"Solute carriers"	14470	protein-coding gene	gene with protein product							Standard	NM_133489		Approved		uc001spe.3	Q8NG04	OTTHUMG00000128505	ENST00000320442.4:c.819G>T	12.37:g.58016597G>T						SLC26A10_ENST00000320442.4_Silent_p.L273L	p.L273L			Q8NG04	S2610_HUMAN			6	1130	+	Melanoma(17;0.122)		273					A6NMJ2|B6ZDQ3|Q6ZWI7	Silent	SNP	ENST00000320442.4	37	c.819G>T	CCDS8949.2																																																																																				0.567	SLC26A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250311.2			6	155	1	0	3.09899e-07	1	3.51777e-07	6	155					T	58016597	G	T	58016597	2	4	428	1	0	0	0	0	0	0	0	1	14515	1335	47	4		4	SLC26A10	12	58016597	Silent	SNP	G	TCGA-FY-A3NM-01A-11D-A21A-08		58016597	75835298	15	8749											
LHX5	64211	broad.mit.edu	37	chr12	113907149	113907149	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcgcatttcgtgccaaagcGcctgtggacacaatgtgcct	12	12	0	0	rs202027707		TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr12:113907149G>T	ENST00000261731.3	-	2	748	c.175C>A	c.(175-177)Cgc>Agc	p.R59S	LHX5_ENST00000557836.1_5'Flank|RP11-82C23.2_ENST00000551357.2_RNA	NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	59	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation in forebrain (GO:0021846)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|forebrain neuron differentiation (GO:0021879)|hippocampus development (GO:0021766)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						GTGCCAAAGCGCCTGTGGACA	0.632																																						ENST00000261731.3																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						c.e2-1		LIM homeobox 5							49	46	47					12																	113907149		2203	4299	6502	SO:0001630	splice_region_variant	64211					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:113907149G>T	AF291181	CCDS9171.1	12q24.13	2014-01-15			ENSG00000089116	ENSG00000089116		"Homeoboxes / LIM class"	14216	protein-coding gene	gene with protein product		605992					Standard	NM_022363		Approved		uc001tvj.1	Q9H2C1	OTTHUMG00000169552	ENST00000261731.3:c.174-1C>A	12.37:g.113907149G>T							p.R59_splice	NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN			2	748	-			59			LIM zinc-binding 1.		Q32MA4	Splice_Site	SNP	ENST00000261731.3	37	c.173_splice	CCDS9171.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675602	0.67928	.	.	ENSG00000089116	ENST00000261731	D	0.87256	-2.23	5.16	5.16	0.70880	Zinc finger, LIM-type (3);	0.000000	0.49305	D	0.000144	D	0.88340	0.6410	M	0.85777	2.775	0.80722	D	1	P	0.36753	0.568	B	0.38428	0.273	D	0.89347	0.3658	10	0.66056	D	0.02	.	11.7601	0.51898	0.0:0.0:0.7036:0.2964	.	59	Q9H2C1	LHX5_HUMAN	S	59	ENSP00000261731:R59S	ENSP00000261731:R59S	R	-	1	0	LHX5	112391532	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	3.082000	0.50128	2.420000	0.82092	0.561000	0.74099	CGC		0.632	LHX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404788.3	NM_022363	Missense_Mutation	5	60	1	0	0.0293803	1	0.032473	5	60					T	113907149	G	T	113907149	5	4	428	1	0	0	0	0	0	0	1	0	8774	1101	38	4	1049	4	LHX5	12	113907149	Splice_Site	SNP	G	TCGA-FY-A3NM-01A-11D-A21A-08	55890552	113907149	19944746	16	8750											
APEX1	328	broad.mit.edu	37	chr14	20923820	20923820	+	Frame_Shift_Del	DEL	A	A	-													cgggaatgccgaagcgtgggAaaaagggagcggtggcggaa							TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr14:20923820delA	ENST00000216714.3	+	2	284	c.16delA	c.(16-18)aaafs	p.K7fs	APEX1_ENST00000398030.4_Frame_Shift_Del_p.K7fs|APEX1_ENST00000555414.1_Frame_Shift_Del_p.K7fs|OSGEP_ENST00000206542.4_5'Flank|OSGEP_ENST00000556252.1_5'Flank|APEX1_ENST00000557054.1_Frame_Shift_Del_p.K7fs|APEX1_ENST00000557365.1_Intron	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	7	Necessary for interaction with YBX1, binding to RNA, NPM1-dependent association with rRNA, endoribonuclease activity on abasic RNA and localization in the nucleoli.				aging (GO:0007568)|base-excision repair (GO:0006284)|cell redox homeostasis (GO:0045454)|cellular response to cAMP (GO:0071320)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to peptide hormone stimulus (GO:0071375)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA demethylation (GO:0080111)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|negative regulation of smooth muscle cell migration (GO:0014912)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oxidation-reduction process (GO:0055114)|positive regulation of DNA repair (GO:0045739)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribosome (GO:0005840)|transcription factor complex (GO:0005667)	3'-5' exonuclease activity (GO:0008408)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|phosphodiesterase I activity (GO:0004528)|phosphoric diester hydrolase activity (GO:0008081)|poly(A) RNA binding (GO:0044822)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|uracil DNA N-glycosylase activity (GO:0004844)			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	GAAGCGTGGGAAAAAGGGAGC	0.557								Other BER factors																														ENST00000216714.3																			0				breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9						c.(16-18)aafs	Other BER factors	APEX nuclease (multifunctional DNA repair enzyme) 1	Lucanthone(DB04967)						111	101	104					14																	20923820		2203	4300	6503	SO:0001589	frameshift_variant	328				base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity	g.chr14:20923820delA	X59764	CCDS9550.1	14q11.2	2008-02-05	2002-09-11	2002-09-13	ENSG00000100823	ENSG00000100823	4.2.99.18		587	protein-coding gene	gene with protein product		107748	"APEX nuclease (multifunctional DNA repair enzyme)"	APEX			Standard	NM_001641		Approved	APE, REF1, HAP1, APX, APEN, REF-1, APE-1	uc021rnr.1	P27695	OTTHUMG00000029544	ENST00000216714.3:c.16delA	14.37:g.20923820delA	ENSP00000216714:p.Lys7fs					APEX1_ENST00000557365.1_Intron|APEX1_ENST00000557054.1_Frame_Shift_Del_p.K7fs|APEX1_ENST00000555414.1_Frame_Shift_Del_p.K7fs|APEX1_ENST00000398030.4_Frame_Shift_Del_p.K7fs	p.K7fs	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	2	284	+	all_cancers(95;0.00123)	all_lung(585;0.235)	7			Necessary for interaction with YBX1, binding to RNA, NPM1-dependent association with rRNA, endoribonuclease activity on abasic RNA and localization in the nucleoli.		Q969L5|Q99775	Frame_Shift_Del	DEL	ENST00000216714.3	37	c.16delA	CCDS9550.1																																																																																				0.557	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073641.3	NM_001641		8	284						8	284	---	---	---	---	-	20923820	A	-	20923820	7	5	428	1	0	1	0	1	0	0	0	0	769	247	9	0	18	0	APEX1	14	20923820	Frame_Shift_Del	DEL	A	TCGA-FY-A3NM-01A-11D-A21A-08		20923820	86425720	17	8751											
KCNK10	54207	broad.mit.edu	37	chr14	88658695	88658695	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacaaacacaatgcagccGgccaagatgaacaggatggt	11	10	1	2	rs199739180		TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr14:88658695G>A	ENST00000340700.5	-	5	1177	c.726C>T	c.(724-726)gcC>gcT	p.A242A	KCNK10_ENST00000312350.5_Silent_p.A247A|KCNK10_ENST00000319231.5_Silent_p.A247A	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	242					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CAATGCAGCCGGCCAAGATGA	0.498																																						ENST00000340700.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						c.(724-726)gcC>gcT		potassium channel, subfamily K, member 10		G	,,	0,4406		0,0,2203	197	178	185		726,741,741	-2.8	1.0	14		185	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	KCNK10	NM_021161.4,NM_138317.2,NM_138318.2	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	242/539,247/544,247/544	88658695	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88658695G>A	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6273	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 97"	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.726C>T	14.37:g.88658695G>A						KCNK10_ENST00000319231.5_Silent_p.A247A|KCNK10_ENST00000312350.5_Silent_p.A247A	p.A242A	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN			5	1177	-			242					B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Silent	SNP	ENST00000340700.5	37	c.726C>T	CCDS9880.1																																																																																				0.498	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		10	293	0	0	0	1	0	10	293					A	88658695	G	A	88658695	2	1	428	1	0	0	0	0	0	0	0	1	8059	1103	39	1		1	KCNK10	14	88658695	Silent	SNP	G	TCGA-FY-A3NM-01A-11D-A21A-08	67734875	88658695	18690845	18	8752											
GABRB3	2562	broad.mit.edu	37	chr15	26806094	26806094	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cctacccggttgctttcgctCtttgaacggtcattctttgc	8	13	3	1			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr15:26806094C>G	ENST00000311550.5	-	8	1176	c.1065G>C	c.(1063-1065)aaG>aaC	p.K355N	GABRB3_ENST00000299267.4_Missense_Mutation_p.K355N|GABRB3_ENST00000545868.1_Missense_Mutation_p.K270N|GABRB3_ENST00000541819.2_Missense_Mutation_p.K411N|GABRB3_ENST00000400188.3_Missense_Mutation_p.K284N	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	355					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|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)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	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)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGCTTTCGCTCTTTGAACGGT	0.473																																						ENST00000541819.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68						c.(1231-1233)aaG>aaC		gamma-aminobutyric acid (GABA) A receptor, beta 3	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						247	266	259					15																	26806094		2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	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.chr15:26806094C>G		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4083	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 3"	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.1065G>C	15.37:g.26806094C>G	ENSP00000308725:p.Lys355Asn					GABRB3_ENST00000545868.1_Missense_Mutation_p.K270N|GABRB3_ENST00000299267.4_Missense_Mutation_p.K355N|GABRB3_ENST00000311550.5_Missense_Mutation_p.K355N|GABRB3_ENST00000400188.3_Missense_Mutation_p.K284N	p.K411N			P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	9	1335	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	355					B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.1233G>C	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.491569	0.26774	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87	5.19	1.84	0.25277	Neurotransmitter-gated ion-channel transmembrane domain (2);	38.769200	0.00166	N	0.000000	D	0.83175	0.5197	M	0.64404	1.975	0.20563	N	0.999882	B;B;B	0.12013	0.0;0.005;0.0	B;B;B	0.12156	0.007;0.005;0.003	T	0.58907	-0.7553	10	0.21540	T	0.41	.	7.8462	0.29426	0.0:0.6015:0.0:0.3985	.	411;355;355	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	N	355;411;355;284;270	ENSP00000308725:K355N;ENSP00000442408:K411N;ENSP00000299267:K355N;ENSP00000383049:K284N;ENSP00000439169:K270N	ENSP00000299267:K355N	K	-	3	2	GABRB3	24357187	0.979000	0.34478	0.450000	0.26969	0.886000	0.51366	1.027000	0.30115	0.570000	0.29347	0.655000	0.94253	AAG		0.473	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			3	178	0	0	0	1	0	3	178					G	26806094	C	G	26806094	3	3	428	1	0	0	0	0	1	0	0	0	6168	912	32	4	364	4	GABRB3	15	26806094	Missense_Mutation	SNP	C	TCGA-FY-A3NM-01A-11D-A21A-08		26806094	75725298	19	8753											
TJP1	7082	broad.mit.edu	37	chr15	30001016	30001016	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatggtcgggcagaacttgTatatggttttggtgtgaatc	13	4	0	2			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr15:30001016T>C	ENST00000346128.6	-	25	5071	c.4597A>G	c.(4597-4599)Aca>Gca	p.T1533A	TJP1_ENST00000356107.6_Missense_Mutation_p.T1533A|TJP1_ENST00000545208.2_Missense_Mutation_p.T1453A|TJP1_ENST00000400011.2_Missense_Mutation_p.T1457A	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1533					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GCAGAACTTGTATATGGTTTT	0.403																																					Melanoma(77;681 1843 6309 6570)	ENST00000346128.6																			0				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(4597-4599)Aca>Gca		tight junction protein 1							307	285	292					15																	30001016		1919	4143	6062	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30001016T>C		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"zona occludens 1", "tight junction protein ZO-1"	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.4597A>G	15.37:g.30001016T>C	ENSP00000281537:p.Thr1533Ala					TJP1_ENST00000545208.2_Missense_Mutation_p.T1453A|TJP1_ENST00000400011.2_Missense_Mutation_p.T1457A|TJP1_ENST00000356107.6_Missense_Mutation_p.T1533A	p.T1533A	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	25	5071	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	1533					B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.4597A>G	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.097789	0.76870	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.60548	0.18;0.18	5.65	4.5	0.54988	.	0.048578	0.85682	D	0.000000	T	0.57373	0.2049	L	0.60455	1.87	0.80722	D	1	P;P;P;P	0.49090	0.919;0.875;0.864;0.875	P;P;P;P	0.45037	0.452;0.467;0.452;0.467	T	0.61686	-0.7012	10	0.72032	D	0.01	.	12.0253	0.53367	0.1294:0.0:0.0:0.8706	.	1526;1453;1533;1457	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	A	1533;1457;1533;1453;1453	ENSP00000281537:T1533A;ENSP00000382890:T1457A	ENSP00000281537:T1533A	T	-	1	0	TJP1	27788308	1.000000	0.71417	0.138000	0.22173	0.979000	0.70002	7.525000	0.81892	1.113000	0.41760	0.533000	0.62120	ACA		0.403	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		5	305	0	0	0	1	0	5	305					C	30001016	T	C	30001016	3	2	428	1	0	0	0	0	1	0	0	0	15926	1638	57	3	665	3	TJP1	15	30001016	Missense_Mutation	SNP	T	TCGA-FY-A3NM-01A-11D-A21A-08	3194922	30001016	72530376	20	8754											
PLA2G4F	255189	broad.mit.edu	37	chr15	42434347	42434347	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgccatagggggtgtctggCctgttgatgacaaagtcccc	13	10	1	2			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr15:42434347C>A	ENST00000382396.4	-	20	2471	c.2385G>T	c.(2383-2385)agG>agT	p.R795S	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.R797S			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	795	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GGGTGTCTGGCCTGTTGATGA	0.567																																						ENST00000397272.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(2389-2391)agG>agT		phospholipase A2, group IVF							89	78	82					15																	42434347		2203	4299	6502	SO:0001583	missense	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42434347C>A		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.2385G>T	15.37:g.42434347C>A	ENSP00000371833:p.Arg795Ser					PLA2G4F_ENST00000382396.4_Missense_Mutation_p.R795S	p.R797S	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	20	2482	-		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	795			PLA2c.		Q6ZMC8	Missense_Mutation	SNP	ENST00000382396.4	37	c.2391G>T	CCDS32204.1	.	.	.	.	.	.	.	.	.	.	C	7.499	0.652361	0.14580	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000443825	T;T	0.03920	3.76;3.76	5.21	1.97	0.26223	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (1);	0.517766	0.18900	N	0.128068	T	0.01592	0.0051	N	0.02247	-0.625	0.19575	N	0.999962	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.001;0.003;0.001	T	0.47861	-0.9084	10	0.11485	T	0.65	-19.536	4.0488	0.09785	0.0:0.3291:0.2593:0.4116	.	582;797;795	A2RRC4;C9J281;Q68DD2	.;.;PA24F_HUMAN	S	791;797;795;795	ENSP00000380442:R797S;ENSP00000371833:R795S	ENSP00000290497:R791S	R	-	3	2	PLA2G4F	40221639	0.001000	0.12720	0.934000	0.37439	0.338000	0.28826	-0.394000	0.07296	0.714000	0.32081	0.655000	0.94253	AGG		0.567	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		3	64	1	0	1	1	1	3	64					A	42434347	C	A	42434347	3	1	428	1	0	0	0	0	1	0	0	0	12006	738	26	4	168	4	PLA2G4F	15	42434347	Missense_Mutation	SNP	C	TCGA-FY-A3NM-01A-11D-A21A-08	12433331	42434347	60097045	21	8755											
DPP8	54878	broad.mit.edu	37	chr15	65739246	65739246	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcacttttagagcagcaatAcgtgatccaaggttttcttg	8	8	2	2			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr15:65739246A>C	ENST00000341861.5	-	20	4253	c.2673T>G	c.(2671-2673)cgT>cgG	p.R891R	DPP8_ENST00000321118.7_Silent_p.R842R|DPP8_ENST00000321147.6_Silent_p.R840R|DPP8_ENST00000559233.1_Silent_p.R891R|DPP8_ENST00000358939.4_Silent_p.R775R|DPP8_ENST00000300141.6_Silent_p.R875R|DPP8_ENST00000339244.5_Silent_p.R718R	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	891					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GAGCAGCAATACGTGATCCAA	0.388																																						ENST00000341861.5																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2671-2673)cgT>cgG		dipeptidyl-peptidase 8							166	159	161					15																	65739246		2201	4299	6500	SO:0001819	synonymous_variant	54878				immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr15:65739246A>C	AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"dipeptidyl peptidase VIII", "dipeptidyl peptidase IV-related protein-1", "prolyl dipeptidase DPP8"	606819	"dipeptidylpeptidase 8"			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.2673T>G	15.37:g.65739246A>C						DPP8_ENST00000358939.4_Silent_p.R775R|DPP8_ENST00000339244.5_Silent_p.R718R|DPP8_ENST00000321147.6_Silent_p.R840R|DPP8_ENST00000300141.6_Silent_p.R875R|DPP8_ENST00000321118.7_Silent_p.R842R|DPP8_ENST00000559233.1_Silent_p.R891R	p.R891R	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN			20	4253	-			891					Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Silent	SNP	ENST00000341861.5	37	c.2673T>G	CCDS10207.1																																																																																				0.388	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1	NM_017743		53	61	0	0	0	1	0	53	61					C	65739246	A	C	65739246	2	2	428	1	0	0	0	0	0	0	0	1	4732	378	14	5		5	DPP8	15	65739246	Silent	SNP	A	TCGA-FY-A3NM-01A-11D-A21A-08	23304899	65739246	36792146	22	8756											
C15orf44	81556	broad.mit.edu	37	chr15	65877142	65877142	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttgatccagacagtcacaTtctgggcataactgcgtttg	10	9	2	2			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr15:65877142T>C	ENST00000395644.4	-	10	1540	c.1205A>G	c.(1204-1206)aAt>aGt	p.N402S	VWA9_ENST00000313182.2_Missense_Mutation_p.N402S|VWA9_ENST00000569180.1_5'Flank|VWA9_ENST00000567744.1_Missense_Mutation_p.N438S|VWA9_ENST00000420799.2_Missense_Mutation_p.N345S|VWA9_ENST00000569491.1_Missense_Mutation_p.N352S|VWA9_ENST00000431261.2_Missense_Mutation_p.N323S|VWA9_ENST00000442903.3_Missense_Mutation_p.N366S			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9	402																	GACAGTCACATTCTGGGCATA	0.468																																						ENST00000395644.4																			0											c.(1204-1206)aAt>aGt		von Willebrand factor A domain containing 9							149	130	137					15																	65877142		2201	4299	6500	SO:0001583	missense	81556							g.chr15:65877142T>C	AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 44"	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000395644.4:c.1205A>G	15.37:g.65877142T>C	ENSP00000379006:p.Asn402Ser					VWA9_ENST00000313182.2_Missense_Mutation_p.N402S|VWA9_ENST00000569491.1_Missense_Mutation_p.N352S|VWA9_ENST00000420799.2_Missense_Mutation_p.N345S|VWA9_ENST00000442903.3_Missense_Mutation_p.N366S|VWA9_ENST00000431261.2_Missense_Mutation_p.N323S|VWA9_ENST00000567744.1_Missense_Mutation_p.N438S	p.N402S							10	1540	-								B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Missense_Mutation	SNP	ENST00000395644.4	37	c.1205A>G		.	.	.	.	.	.	.	.	.	.	T	13.85	2.361630	0.41801	.	.	ENSG00000138614	ENST00000395644;ENST00000313182;ENST00000431261;ENST00000420799;ENST00000442903	.	.	.	5.65	5.65	0.86999	.	0.170574	0.64402	D	0.000006	T	0.49253	0.1546	L	0.33485	1.01	0.58432	D	0.999993	B;B;B;B	0.32101	0.356;0.02;0.134;0.134	B;B;B;B	0.33454	0.164;0.02;0.018;0.018	T	0.47114	-0.9142	9	0.37606	T	0.19	-33.4736	16.0399	0.80667	0.0:0.0:0.0:1.0	.	352;366;438;402	B4DWZ3;B4DVT3;B4DJL6;Q96SY0	.;.;.;CO044_HUMAN	S	402;402;323;345;366	.	ENSP00000326379:N402S	N	-	2	0	C15orf44	63664195	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.024000	0.70857	2.371000	0.80710	0.533000	0.62120	AAT		0.468	VWA9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420604.3	NM_030800		14	26	0	0	0	1	0	14	26					C	65877142	T	C	65877142	3	2	428	1	0	0	0	0	1	0	0	0	1798	1493	52	3	363	3	C15orf44	15	65877142	Missense_Mutation	SNP	T	TCGA-FY-A3NM-01A-11D-A21A-08	137896	65877142	36654250	23	8757											
CASC3	22794	broad.mit.edu	37	chr17	38319961	38319961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgggcagcatggtggccGgtctggtgagactgttaagc	18	7	1	1	rs139973585		TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr17:38319961G>A	ENST00000264645.7	+	7	1239	c.1013G>A	c.(1012-1014)cGg>cAg	p.R338Q		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	338					gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						CATGGTGGCCGGTCTGGTGAG	0.552																																						ENST00000264645.7																			0				endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						c.(1012-1014)cGg>cAg		cancer susceptibility candidate 3		G	GLN/ARG	0,4406		0,0,2203	205	196	199		1013	4.8	1.0	17	dbSNP_134	199	2,8598	2.2+/-6.3	0,2,4298	no	missense	CASC3	NM_007359.4	43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	338/704	38319961	2,13004	2203	4300	6503	SO:0001583	missense	22794				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding	g.chr17:38319961G>A	X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.1013G>A	17.37:g.38319961G>A	ENSP00000264645:p.Arg338Gln						p.R338Q	NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN			7	1239	+			338					A8K8R0	Missense_Mutation	SNP	ENST00000264645.7	37	c.1013G>A	CCDS11362.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460726	0.84317	0.0	2.33E-4	ENSG00000108349	ENST00000264645;ENST00000418132;ENST00000394114	.	.	.	5.74	4.76	0.60689	.	0.368102	0.27159	N	0.020656	T	0.21145	0.0509	N	0.19112	0.55	0.30776	N	0.742493	P;P	0.52692	0.955;0.817	B;B	0.38194	0.267;0.143	T	0.11616	-1.0580	9	0.40728	T	0.16	-15.3922	10.9762	0.47467	0.1447:0.0:0.8553:0.0	.	338;338	B4DKR6;O15234	.;CASC3_HUMAN	Q	338	.	ENSP00000264645:R338Q	R	+	2	0	CASC3	35573487	0.917000	0.31117	1.000000	0.80357	0.982000	0.71751	4.458000	0.60095	2.717000	0.92951	0.655000	0.94253	CGG		0.552	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257127.3	NM_007359		4	228	0	0	0	1	0	4	228					A	38319961	G	A	38319961	3	1	428	1	0	0	0	0	1	0	0	0	2661	1116	39	1	1039	1	CASC3	17	38319961	Missense_Mutation	SNP	G	TCGA-FY-A3NM-01A-11D-A21A-08		38319961	42875249	24	8758											
PLEKHG2	64857	broad.mit.edu	37	chr19	39913841	39913841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagagaactgttttctgggaGcaatcctgggaaactgggag	15	6	1	1			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr19:39913841G>A	ENST00000409794.3	+	18	2997	c.2147G>A	c.(2146-2148)aGc>aAc	p.S716N	PLEKHG2_ENST00000458508.2_Missense_Mutation_p.S657N|PLEKHG2_ENST00000409797.2_Intron|CTB-60E11.4_ENST00000601124.1_lincRNA|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.S687N|PLEKHG2_ENST00000378550.1_Intron	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	716					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTTTCTGGGAGCAATCCTGGG	0.592																																						ENST00000425673.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(2059-2061)aGc>aAc		pleckstrin homology domain containing, family G (with RhoGef domain) member 2							64	74	70					19																	39913841		2203	4299	6502	SO:0001583	missense	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39913841G>A	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.2147G>A	19.37:g.39913841G>A	ENSP00000386733:p.Ser716Asn					PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.S716N|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.S657N	p.S687N			Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		16	2385	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		716					B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	37	c.2060G>A	CCDS33022.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.691|4.691	0.128497|0.128497	0.08981|0.08981	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000205135|ENST00000409794;ENST00000425673;ENST00000458508	.|T;T;T	.|0.71579	.|-0.44;-0.49;-0.58	5.13|5.13	-2.55|-2.55	0.06288|0.06288	.|.	.|0.812659	.|0.11000	.|N	.|0.610544	T|T	0.52108|0.52108	0.1714|0.1714	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B;B	.|0.09022	.|0.002;0.001;0.002	.|B;B;B	.|0.08055	.|0.003;0.002;0.002	T|T	0.45205|0.45205	-0.9277|-0.9277	5|10	.|0.72032	.|D	.|0.01	.|.	5.154|5.154	0.15025|0.15025	0.4672:0.1499:0.3828:0.0|0.4672:0.1499:0.3828:0.0	.|.	.|687;716;657	.|Q9H7P9-3;Q9H7P9;E7ESZ3	.|.;PKHG2_HUMAN;.	T|N	584|716;687;657	.|ENSP00000386733:S716N;ENSP00000392906:S687N;ENSP00000408857:S657N	.|ENSP00000386733:S716N	A|S	+|+	1|2	0|0	PLEKHG2|PLEKHG2	44605681|44605681	0.012000|0.012000	0.17670|0.17670	0.000000|0.000000	0.03702|0.03702	0.081000|0.081000	0.17604|0.17604	0.050000|0.050000	0.14120|0.14120	-0.166000|-0.166000	0.10890|0.10890	0.561000|0.561000	0.74099|0.74099	GCA|AGC		0.592	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		3	88	0	0	0	1	0	3	88					A	39913841	G	A	39913841	3	1	428	1	0	0	0	0	1	0	0	0	12069	971	34	2	2213	2	PLEKHG2	19	39913841	Missense_Mutation	SNP	G	TCGA-FY-A3NM-01A-11D-A21A-08		39913841	19215142	25	8759											
NUMBL	9253	broad.mit.edu	37	chr19	41179384	41179384	+	Frame_Shift_Del	DEL	C	C	-													acggaaggagccctggcgaaCcagctgctccaggggtgcat							TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr19:41179384delC	ENST00000252891.4	-	8	1068	c.901delG	c.(901-903)gttfs	p.V301fs	NUMBL_ENST00000598779.1_Frame_Shift_Del_p.V260fs|NUMBL_ENST00000540131.1_Frame_Shift_Del_p.V260fs	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	301					adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			CCCTGGCGAACCAGCTGCTCC	0.657																																						ENST00000252891.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16						c.(901-903)ttfs		numb homolog (Drosophila)-like							26	22	24					19																	41179384		2202	4297	6499	SO:0001589	frameshift_variant	9253				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding	g.chr19:41179384delC	AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"numb (Drosophila) homolog-like"			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.901delG	19.37:g.41179384delC	ENSP00000252891:p.Val301fs					NUMBL_ENST00000540131.1_Frame_Shift_Del_p.V260fs|NUMBL_ENST00000598779.1_Frame_Shift_Del_p.V260fs	p.V301fs	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)		8	1068	-			301					Q7Z4J9	Frame_Shift_Del	DEL	ENST00000252891.4	37	c.901delG	CCDS12561.1																																																																																				0.657	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	NM_004756		2	4						2	4	---	---	---	---	-	41179384	C	-	41179384	7	5	428	1	0	1	0	1	0	0	0	0	10752	507	18	0	940	0	NUMBL	19	41179384	Frame_Shift_Del	DEL	C	TCGA-FY-A3NM-01A-11D-A21A-08	1265543	41179384	17949599	26	8760											
LILRB4	11006	broad.mit.edu	37	chr19	55179377	55179377	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacgcccagctgcacagcttTaccctcagacagaaggcaac	8	15	1	2	rs149600113		TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr19:55179377T>G	ENST00000391736.1	+	14	1569	c.1254T>G	c.(1252-1254)ttT>ttG	p.F418L	LILRB4_ENST00000391734.3_Missense_Mutation_p.F365L|LILRB4_ENST00000430952.2_Missense_Mutation_p.F417L|LILRB4_ENST00000391733.3_Missense_Mutation_p.F419L|LILRB4_ENST00000270452.2_Missense_Mutation_p.F418L	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	418					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		TGCACAGCTTTACCCTCAGAC	0.627													G|||	1	0.000199681	8e-04	0	5008	,	,		16015	0		0	False		,,,				2504	0					ENST00000391736.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39						c.(1252-1254)ttT>ttG		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4							93	97	95					19																	55179377		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	antigen binding|receptor activity	g.chr19:55179377T>G	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.1254T>G	19.37:g.55179377T>G	ENSP00000375616:p.Phe418Leu					LILRB4_ENST00000391733.3_Missense_Mutation_p.F419L|LILRB4_ENST00000391734.3_Missense_Mutation_p.F365L|LILRB4_ENST00000270452.2_Missense_Mutation_p.F418L|LILRB4_ENST00000430952.2_Missense_Mutation_p.F417L	p.F418L	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN		GBM - Glioblastoma multiforme(193;0.035)	14	1569	+			418					A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	c.1254T>G	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	G	0.039	-1.292496	0.01375	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733	T;T;T;T;T	0.00460	7.32;7.32;7.31;7.27;7.33	2.07	-0.638	0.11500	.	.	.	.	.	T	0.00073	0.0002	N	0.00251	-1.775	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.06405	0.0;0.0;0.002;0.0	T	0.42849	-0.9427	9	0.02654	T	1	.	0.6834	0.00878	0.1703:0.2396:0.3472:0.2428	.	365;419;417;418	A8MUE1;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;LIRB4_HUMAN	L	418;418;417;365;419	ENSP00000375616:F418L;ENSP00000270452:F418L;ENSP00000408995:F417L;ENSP00000375614:F365L;ENSP00000375613:F419L	ENSP00000270452:F418L	F	+	3	2	LILRB4	59871189	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	0.085000	0.14912	-0.134000	0.11516	-0.484000	0.04775	TTT		0.627	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			3	135	0	0	0	1	0	3	135					G	55179377	T	G	55179377	3	3	428	1	0	0	0	0	1	0	0	0	8793	1751	61	5	1300	5	LILRB4	19	55179377	Missense_Mutation	SNP	T	TCGA-FY-A3NM-01A-11D-A21A-08	13999993	55179377	3949606	27	8761											
SIRPD	128646	broad.mit.edu	37	chr20	1532407	1532407	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttccttttatgaacttcacGcagtaataggtgccagcatc	7	11	1	1	rs376805676		TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr20:1532407G>T	ENST00000381623.3	-	2	1540	c.351C>A	c.(349-351)tgC>tgA	p.C117*	SIRPD_ENST00000381621.1_Nonsense_Mutation_p.C117*			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	117	Ig-like V-type.					extracellular region (GO:0005576)				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						TGAACTTCACGCAGTAATAGG	0.493																																						ENST00000381623.3																			0				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						c.(349-351)tgC>tgA		signal-regulatory protein delta							150	144	146					20																	1532407		2203	4300	6503	SO:0001587	stop_gained	128646					extracellular region		g.chr20:1532407G>T	AL049634	CCDS13018.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000125900	ENSG00000125900		"Signal-regulatory proteins", "Immunoglobulin superfamily / V-set domain containing"	16248	protein-coding gene	gene with protein product			"protein tyrosine phosphatase, non-receptor type substrate 1-like 2"	PTPNS1L2		16339511	Standard	NM_178460		Approved	dJ576H24.4	uc002wfi.3	Q9H106	OTTHUMG00000031674	ENST00000381623.3:c.351C>A	20.37:g.1532407G>T	ENSP00000371036:p.Cys117*					SIRPD_ENST00000381621.1_Nonsense_Mutation_p.C117*	p.C117*			Q9H106	SIRPD_HUMAN			2	1540	-			117			Ig-like V-type.		B3KS88|Q5TFQ6	Nonsense_Mutation	SNP	ENST00000381623.3	37	c.351C>A	CCDS13018.1	.	.	.	.	.	.	.	.	.	.	g	11.85	1.762526	0.31228	.	.	ENSG00000125900	ENST00000381623;ENST00000381621	.	.	.	3.69	-4.1	0.03940	.	0.000000	0.43110	U	0.000601	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7681	0.40574	0.7489:0.0:0.2511:0.0	.	.	.	.	X	117	.	ENSP00000371034:C117X	C	-	3	2	SIRPD	1480407	0.973000	0.33851	0.286000	0.24833	0.158000	0.22134	-0.148000	0.10219	-1.318000	0.02289	-0.966000	0.02617	TGC		0.493	SIRPD-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077552.1	NM_178460		3	98	1	0	1	1	1	3	98					T	1532407	G	T	1532407	4	4	428	1	0	0	0	0	0	1	0	0	14335	1079	38	4	254	4	SIRPD	20	1532407	Nonsense_Mutation	SNP	G	TCGA-FY-A3NM-01A-11D-A21A-08		1532407	61493113	28	8762											
TMEM90B	79953	broad.mit.edu	37	chr20	24524183	24524185	+	In_Frame_Del	DEL	GGA	GGA	-													cacaccctgtcctacgatgtGgaggaggaggaggagttcca							TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr20:24524183_24524185delGGA	ENST00000376862.3	+	2	1083_1085	c.450_452delGGA	c.(448-453)gtggag>gtg	p.E155del		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	155	Poly-Glu.				intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CCTACGATGTGGAGGAGGAGGAG	0.547																																						ENST00000376862.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						c.(448-453)gtg>gt		synapse differentiation inducing 1																																				SO:0001651	inframe_deletion	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24524183_24524185delGGA	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 5", "synapse differentiation induced gene 1"	614311	"chromosome 20 open reading frame 39", "transmembrane protein 90B"	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.450_452delGGA	20.37:g.24524192_24524194delGGA	ENSP00000366058:p.Glu155del						p.VE150del	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN			2	1083_1085	+			150					Q6IA30|Q9H514	In_Frame_Del	DEL	ENST00000376862.3	37	c.450_452delGGA	CCDS13164.1																																																																																				0.547	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		7	292						7	292	---	---	---	---	-	24524185	GGA	-	24524183	7	5	428	1	0	1	0	1	0	0	0	0	16216	1335	47	0	452	0	TMEM90B	20	24524183	In_Frame_Del	DEL	GGA	TCGA-FY-A3NM-01A-11D-A21A-08	22991776	24524183	38501337	29	8763											
ESPN	83715	broad.mit.edu	37	chr1	6500712	6500712	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgcaccgacgtgagcctgtcCgagcaggacaaagacggcgc	14	13	0	2	rs367944375		TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr1:6500712C>G	ENST00000377828.1	+	4	870	c.702C>G	c.(700-702)tcC>tcG	p.S234S	RP1-202O8.2_ENST00000419034.1_RNA	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	234					locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		TGAGCCTGTCCGAGCAGGACA	0.741																																						ENST00000377828.1																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17						c.(700-702)tcC>tcG		espin							3	5	4					1																	6500712		1942	3924	5866	SO:0001819	synonymous_variant	83715				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding	g.chr1:6500712C>G	AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"Ankyrin repeat domain containing"	13281	protein-coding gene	gene with protein product		606351	"deafness, autosomal recessive 36"	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.702C>G	1.37:g.6500712C>G							p.S234S	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)	4	870	+	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)	234					Q6XYB2|Q9H0A2|Q9Y329	Silent	SNP	ENST00000377828.1	37	c.702C>G	CCDS70.1																																																																																				0.741	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001887.3	NM_031475		6	10	0	0	0	0.001168	0	6	10					G	6500712	C	G	6500712	2	3	429	1	0	0	0	0	0	0	0	1	5254	639	23	4		4	ESPN	1	6500712	Silent	SNP	C	TCGA-FY-A3NN-01A-11D-A21A-08		6500712	242749909	1	8764											
C1orf151	440574	broad.mit.edu	37	chr1	19948613	19948613	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggtactggttttggattaggAattgttttctcacttacctt	9	6	1	0			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr1:19948613A>T	ENST00000322753.6	+	2	140	c.84A>T	c.(82-84)ggA>ggT	p.G28G	MINOS1-NBL1_ENST00000602662.1_Intron|MINOS1_ENST00000486890.1_3'UTR	NM_001032363.3|NM_001204082.1|NM_001204083.1	NP_001027535.1|NP_001191011.1|NP_001191012.1	Q5TGZ0	MIC10_HUMAN	mitochondrial inner membrane organizing system 1	28						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)											TTGGATTAGGAATTGTTTTCT	0.343																																						ENST00000322753.6																			0											c.(82-84)ggA>ggT		mitochondrial inner membrane organizing system 1							235	197	210					1																	19948613		2201	4299	6500	SO:0001819	synonymous_variant	440574					integral to membrane|mitochondrion		g.chr1:19948613A>T	AK094318	CCDS30620.1, CCDS72719.1	1p36.13	2013-10-11	2011-10-04	2011-10-04	ENSG00000173436	ENSG00000173436			32068	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 151"	C1orf151		21944719	Standard	NM_001032363		Approved	RP5-1056L3.2, FLJ36999, MIO10	uc021ohu.1	Q5TGZ0	OTTHUMG00000002712	ENST00000322753.6:c.84A>T	1.37:g.19948613A>T						MINOS1_ENST00000486890.1_3'UTR|MINOS1-NBL1_ENST00000602662.1_Intron	p.G28G	NM_001032363.3|NM_001204082.1|NM_001204083.1	NP_001027535.1|NP_001191011.1|NP_001191012.1	Q5TGZ0	CA151_HUMAN			2	140	+			28					Q96G68	Silent	SNP	ENST00000322753.6	37	c.84A>T	CCDS30620.1																																																																																				0.343	MINOS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007697.2	NM_001032363		8	36	0	0	0	0.006214	0	8	36					T	19948613	A	T	19948613	2	4	429	1	0	0	0	0	0	0	0	1	2005	233	9	5		5	C1orf151	1	19948613	Silent	SNP	A	TCGA-FY-A3NN-01A-11D-A21A-08	13447901	19948613	229302008	2	8765											
PTPRU	10076	broad.mit.edu	37	chr1	29586031	29586031	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagaacgcgtcgttccagtgCatggccgcgggcagagcggc	16	13	0	2			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr1:29586031C>A	ENST00000345512.3	+	5	759	c.630C>A	c.(628-630)tgC>tgA	p.C210*	PTPRU_ENST00000428026.2_Nonsense_Mutation_p.C210*|PTPRU_ENST00000356870.3_Nonsense_Mutation_p.C210*|PTPRU_ENST00000460170.2_Nonsense_Mutation_p.C210*|PTPRU_ENST00000373779.3_Nonsense_Mutation_p.C210*|PTPRU_ENST00000323874.8_Nonsense_Mutation_p.C210*	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	210	Ig-like C2-type.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CGTTCCAGTGCATGGCCGCGG	0.687																																						ENST00000356870.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79						c.(628-630)tgC>tgA		protein tyrosine phosphatase, receptor type, U							22	26	25					1																	29586031		2201	4296	6497	SO:0001587	stop_gained	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29586031C>A	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.630C>A	1.37:g.29586031C>A	ENSP00000334941:p.Cys210*					PTPRU_ENST00000345512.3_Nonsense_Mutation_p.C210*|PTPRU_ENST00000460170.2_Nonsense_Mutation_p.C210*|PTPRU_ENST00000428026.2_Nonsense_Mutation_p.C210*|PTPRU_ENST00000323874.8_Nonsense_Mutation_p.C210*|PTPRU_ENST00000373779.3_Nonsense_Mutation_p.C210*	p.C210*	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	5	740	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	210			Ig-like C2-type.		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Nonsense_Mutation	SNP	ENST00000345512.3	37	c.630C>A	CCDS334.1	.	.	.	.	.	.	.	.	.	.	C	38	7.108432	0.98070	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	.	.	.	4.61	2.73	0.32206	.	0.067820	0.64402	U	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5532	0.22446	0.0:0.6054:0.0:0.3946	.	.	.	.	X	210	.	.	C	+	3	2	PTPRU	29458618	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	0.895000	0.28363	0.400000	0.25396	0.456000	0.33151	TGC		0.687	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			3	58	1	0	0.014758	0.014758	0.0172177	3	58					A	29586031	C	A	29586031	4	1	429	1	0	0	0	0	0	1	0	0	12813	718	25	4	648	4	PTPRU	1	29586031	Nonsense_Mutation	SNP	C	TCGA-FY-A3NN-01A-11D-A21A-08	9637418	29586031	219664590	3	8766											
TTC21B	79809	broad.mit.edu	37	chr2	166770121	166770121	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcatcaccaaggagaagaAaagaccgagggttagccatt	11	8	1	3			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr2:166770121A>G	ENST00000243344.7	-	16	2311	c.2174T>C	c.(2173-2175)tTt>tCt	p.F725S		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	725					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						AAGGAGAAGAAAAGACCGAGG	0.323																																						ENST00000243344.7																			0				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						c.(2173-2175)tTt>tCt		tetratricopeptide repeat domain 21B							96	99	98					2																	166770121		2203	4300	6503	SO:0001583	missense	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166770121A>G	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.2174T>C	2.37:g.166770121A>G	ENSP00000243344:p.Phe725Ser						p.F725S	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN			16	2311	-			725					A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	c.2174T>C	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	A	7.403	0.633145	0.14322	.	.	ENSG00000123607	ENST00000243344	T	0.55234	0.53	5.23	5.23	0.72850	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.161705	0.56097	D	0.000031	T	0.35393	0.0930	N	0.20401	0.57	0.80722	D	1	B	0.24132	0.098	B	0.23419	0.046	T	0.17806	-1.0357	10	0.22706	T	0.39	-11.0818	10.3574	0.43972	0.8535:0.0:0.0:0.1465	.	725	Q7Z4L5	TT21B_HUMAN	S	725	ENSP00000243344:F725S	ENSP00000243344:F725S	F	-	2	0	TTC21B	166478367	1.000000	0.71417	0.990000	0.47175	0.383000	0.30230	3.204000	0.51082	1.966000	0.57179	0.482000	0.46254	TTT		0.323	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		18	51	0	0	0	0.016522	0	18	51					G	166770121	A	G	166770121	3	3	429	1	0	0	0	0	1	0	0	0	16685	14	1	3	1832	3	TTC21B	2	166770121	Missense_Mutation	SNP	A	TCGA-FY-A3NN-01A-11D-A21A-08		166770121	76429252	4	8767											
TWF2	11344	broad.mit.edu	37	chr3	52266070	52266070	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcgtccagcagtggcaGcacggccctgtcatagtcct	13	14	1	0			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr3:52266070G>A	ENST00000305533.5	-	3	415	c.172C>T	c.(172-174)Ctg>Ttg	p.L58L	TLR9_ENST00000494383.1_5'Flank|TLR9_ENST00000597542.1_5'UTR|TWF2_ENST00000499914.2_Silent_p.L58L	NM_007284.3	NP_009215.1	Q6IBS0	TWF2_HUMAN	twinfilin actin-binding protein 2	58	ADF-H 1. {ECO:0000255|PROSITE- ProRule:PRU00599}.				barbed-end actin filament capping (GO:0051016)|cell projection organization (GO:0030030)|cellular response to growth factor stimulus (GO:0071363)|cellular response to retinoic acid (GO:0071300)|negative regulation of actin filament polymerization (GO:0030837)|positive regulation of axon extension (GO:0045773)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of microvillus length (GO:0032532)|sequestering of actin monomers (GO:0042989)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|stereocilium (GO:0032420)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGCAGTGGCAGCACGGCCCTG	0.662											OREG0015610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305533.5																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15						c.(172-174)Ctg>Ttg		twinfilin actin-binding protein 2							67	61	63					3																	52266070		2203	4300	6503	SO:0001819	synonymous_variant	11344							g.chr3:52266070G>A	Y17169	CCDS2849.1	3p21.1	2013-04-25	2013-04-25	2006-11-13	ENSG00000247596	ENSG00000247596			9621	protein-coding gene	gene with protein product		607433	"protein tyrosine kinase 9-like (A6-related protein)", "PTK9L protein tyrosine kinase 9-like (A6-related protein)", "twinfilin, actin-binding protein, homolog 2 (Drosophila)"	PTK9L		10406962, 12807912	Standard	NM_007284		Approved	A6RP, A6r		Q6IBS0	OTTHUMG00000158105	ENST00000305533.5:c.172C>T	3.37:g.52266070G>A			OREG0015610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	983	TWF2_ENST00000499914.2_Silent_p.L58L|TLR9_ENST00000597542.1_5'UTR	p.L58L	NM_007284.3	NP_009215.1				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	3	415	-								Q9Y3F5	Silent	SNP	ENST00000305533.5	37	c.172C>T	CCDS2849.1																																																																																				0.662	TWF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350199.2			3	41	0	0	0	0.004672	0	3	41					A	52266070	G	A	52266070	2	1	429	1	0	0	0	0	0	0	0	1	16779	962	34	2		2	TWF2	3	52266070	Silent	SNP	G	TCGA-FY-A3NN-01A-11D-A21A-08		52266070	145756360	5	8768											
MTHFD2L	441024	broad.mit.edu	37	chr4	75147202	75147202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgtaattgatgtggGtatcaactatgtccacgatc	10	8	1	1	rs370803008		TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr4:75147202G>A	ENST00000395759.2	+	7	893	c.866G>A	c.(865-867)gGt>gAt	p.G289D	MTHFD2L_ENST00000325278.6_Missense_Mutation_p.G231D	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	289					folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|tetrahydrofolate interconversion (GO:0035999)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			ATTGATGTGGGTATCAACTAT	0.368																																						ENST00000395759.2																			0				central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8						c.(865-867)gGt>gAt		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like							151	150	150					4																	75147202		2203	4300	6503	SO:0001583	missense	441024				folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity	g.chr4:75147202G>A	BC065771	CCDS47075.1	4q13.3	2011-08-03			ENSG00000163738	ENSG00000163738			31865	protein-coding gene	gene with protein product		614047				21163947	Standard	NM_001144978		Approved	MGC72244	uc011cbk.2	Q9H903	OTTHUMG00000157135	ENST00000395759.2:c.866G>A	4.37:g.75147202G>A	ENSP00000379108:p.Gly289Asp					MTHFD2L_ENST00000325278.6_Missense_Mutation_p.G231D	p.G289D	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	all cancers(17;0.0101)|Lung(101;0.196)		7	893	+			231					Q6P079|Q8N560	Missense_Mutation	SNP	ENST00000395759.2	37	c.866G>A	CCDS47075.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.921815	0.92319	.	.	ENSG00000163738	ENST00000395759;ENST00000359107;ENST00000325278	T;T;T	0.76448	-1.02;-1.02;-1.02	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.94108	0.8111	H	0.99825	4.815	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.96610	0.9451	10	0.87932	D	0	-31.0348	17.5681	0.87926	0.0:0.0:1.0:0.0	.	289	Q9H903	MTD2L_HUMAN	D	289;231;231	ENSP00000379108:G289D;ENSP00000352012:G231D;ENSP00000321984:G231D	ENSP00000321984:G231D	G	+	2	0	MTHFD2L	75366066	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.319000	0.79040	2.753000	0.94483	0.580000	0.79431	GGT		0.368	MTHFD2L-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004346		3	50	0	0	0	0.004672	0	3	50					A	75147202	G	A	75147202	3	1	429	1	0	0	0	0	1	0	0	0	9930	1261	44	2	892	2	MTHFD2L	4	75147202	Missense_Mutation	SNP	G	TCGA-FY-A3NN-01A-11D-A21A-08		75147202	116007074	6	8769											
CDH12	1010	broad.mit.edu	37	chr5	21817055	21817055	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaacatttgtctatataccTttttcaatttgatgactccc	3	11	2	2			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr5:21817055T>C	ENST00000382254.1	-	9	2087	c.1001A>G	c.(1000-1002)aAg>aGg	p.K334R	CDH12_ENST00000504376.2_Splice_Site_p.K334R|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Splice_Site_p.K294R	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	334	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|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(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCTATATACCTTTTTCAATTT	0.294										HNSCC(59;0.17)																												ENST00000382254.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.e9+1		cadherin 12, type 2 (N-cadherin 2)							124	124	124					5																	21817055		2203	4300	6503	SO:0001630	splice_region_variant	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21817055T>C	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1002+1A>G	5.37:g.21817055T>C		HNSCC(59;0.17)				CDH12_ENST00000504376.2_Splice_Site_p.K334_splice|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Splice_Site_p.K294_splice	p.K334_splice	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN			9	2087	-			334			Cadherin 3.		B2RBT1|B7Z2U6|Q86UD2	Splice_Site	SNP	ENST00000382254.1	37	c.1002_splice	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	T	15.61	2.885705	0.51908	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.55413	0.52;0.52;0.52	5.06	5.06	0.68205	Cadherin (5);Cadherin-like (1);	0.157125	0.64402	D	0.000018	T	0.61413	0.2345	M	0.65677	2.01	0.47374	D	0.999409	B;B	0.26902	0.163;0.013	B;B	0.40477	0.33;0.012	T	0.65216	-0.6222	10	0.87932	D	0	.	15.1071	0.72329	0.0:0.0:0.0:1.0	.	294;334	B7Z2U6;P55289	.;CAD12_HUMAN	R	334;334;294	ENSP00000423577:K334R;ENSP00000371689:K334R;ENSP00000428786:K294R	ENSP00000371689:K334R	K	-	2	0	CDH12	21852812	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	3.581000	0.53914	2.009000	0.58944	0.528000	0.53228	AAG		0.294	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061	Missense_Mutation	3	109	0	0	0	0.004672	0	3	109					C	21817055	T	C	21817055	5	2	429	1	0	0	0	0	0	0	1	0	3098	1623	56	3	1411	3	CDH12	5	21817055	Splice_Site	SNP	T	TCGA-FY-A3NN-01A-11D-A21A-08		21817055	159098205	7	8770											
PRDM9	56979	broad.mit.edu	37	chr5	23527083	23527083	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cctcctcactcaccagaggaGacacacaggggagaagccct	10	15	2	3	rs112192848	byFrequency	TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr5:23527083G>C	ENST00000296682.3	+	11	2068	c.1886G>C	c.(1885-1887)aGa>aCa	p.R629T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	629					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CACCAGAGGAGACACACAGGG	0.612										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(1885-1887)aGa>aCa		PR domain containing 9							20	21	20					5																	23527083		1595	3473	5068	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527083G>C	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1886G>C	5.37:g.23527083G>C	ENSP00000296682:p.Arg629Thr	HNSCC(3;0.000094)					p.R629T	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			11	2068	+			629					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.1886G>C	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.286082	0.00020	.	.	ENSG00000164256	ENST00000296682	T	0.15603	2.41	2.02	1.1	0.20463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37623	N	0.002013	T	0.03178	0.0093	N	0.01168	-0.975	0.19575	N	0.999965	B	0.02656	0.0	B	0.06405	0.002	T	0.35475	-0.9787	10	0.02654	T	1	-1.8516	1.0397	0.01556	0.2376:0.382:0.2326:0.1477	.	629	Q9NQV7	PRDM9_HUMAN	T	629	ENSP00000296682:R629T	ENSP00000296682:R629T	R	+	2	0	PRDM9	23562840	0.000000	0.05858	0.997000	0.53966	0.004000	0.04260	-1.484000	0.02316	-0.004000	0.14419	-1.163000	0.01768	AGA		0.612	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		4	113	0	0	0	0.014758	0	4	113					C	23527083	G	C	23527083	3	2	429	1	0	0	0	0	1	0	0	0	12463	942	33	4	1924	4	PRDM9	5	23527083	Missense_Mutation	SNP	G	TCGA-FY-A3NN-01A-11D-A21A-08	1710028	23527083	157388177	8	8771											
NOTCH4	4855	broad.mit.edu	37	chr6	32190351	32190351	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggatgtggcagcggccccTtttggaacagaaggagggag	17	8	0	1			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr6:32190351T>C	ENST00000375023.3	-	3	526	c.388A>G	c.(388-390)Agg>Ggg	p.R130G		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	130	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CAGCGGCCCCTTTTGGAACAG	0.622																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(388-390)Agg>Ggg		notch 4							40	45	43					6																	32190351		2202	4299	6501	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32190351T>C		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.388A>G	6.37:g.32190351T>C	ENSP00000364163:p.Arg130Gly						p.R130G	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			3	526	-			130			EGF-like 3.		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.388A>G	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	T	1.711	-0.498980	0.04291	.	.	ENSG00000204301	ENST00000375023	T	0.57907	0.37	4.14	2.98	0.34508	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.899723	0.09407	N	0.806387	T	0.04048	0.0113	N	0.00254	-1.765	0.58432	D	0.999998	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.0	T	0.52968	-0.8504	10	0.02654	T	1	.	5.1126	0.14817	0.0:0.2475:0.0:0.7525	.	130;130	Q6P3V5;Q99466	.;NOTC4_HUMAN	G	130	ENSP00000364163:R130G	ENSP00000364163:R130G	R	-	1	2	NOTCH4	32298329	0.972000	0.33761	0.301000	0.25044	0.984000	0.73092	1.766000	0.38491	0.651000	0.30788	0.459000	0.35465	AGG		0.622	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			3	80	0	0	0	0.009096	0	3	80					C	32190351	T	C	32190351	3	2	429	1	0	0	0	0	1	0	0	0	10551	1608	56	3	5735	3	NOTCH4	6	32190351	Missense_Mutation	SNP	T	TCGA-FY-A3NN-01A-11D-A21A-08		32190351	138924716	9	8772											
COBL	23242	broad.mit.edu	37	chr7	51111289	51111289	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcggtcgtgtcctccgaCgcaaaacagctgccaactga	9	15	0	1			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr7:51111289C>T	ENST00000265136.7	-	8	1362	c.1197G>A	c.(1195-1197)gcG>gcA	p.A399A	COBL_ENST00000395542.2_Silent_p.A481A	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	399					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TGTCCTCCGACGCAAAACAGC	0.607																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(1441-1443)gcG>gcA		cordon-bleu WH2 repeat protein							101	83	89					7																	51111289		2203	4300	6503	SO:0001819	synonymous_variant	23242							g.chr7:51111289C>T	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"cordon-bleu homolog (mouse)"				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.1197G>A	7.37:g.51111289C>T						COBL_ENST00000265136.7_Silent_p.A399A	p.A481A			O75128	COBL_HUMAN			10	1627	-	Glioma(55;0.08)		399	Missing (in Ref. 5; AAH29275).				A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP	ENST00000265136.7	37	c.1443G>A	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	C	0.179	-1.064484	0.01934	.	.	ENSG00000106078	ENST00000452534	.	.	.	5.42	-10.8	0.00216	.	.	.	.	.	T	0.19446	0.0467	.	.	.	0.24316	N	0.995064	.	.	.	.	.	.	T	0.35276	-0.9795	4	.	.	.	.	3.7428	0.08537	0.1335:0.1771:0.4089:0.2804	.	.	.	.	I	375	.	.	V	-	1	0	COBL	51078783	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-4.806000	0.00183	-6.320000	0.00005	-0.736000	0.03550	GTC		0.607	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		5	93	0	0	0	0.001168	0	5	93					T	51111289	C	T	51111289	2	4	429	1	0	0	0	0	0	0	0	1	3653	523	19	1		1	COBL	7	51111289	Silent	SNP	C	TCGA-FY-A3NN-01A-11D-A21A-08		51111289	108027374	10	8773											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		28	60	0	0	0	0.012213	0	28	60					T	140453136	A	T	140453136	3	4	429	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FY-A3NN-01A-11D-A21A-08	89341847	140453136	18685527	11	8774											
COL22A1	169044	broad.mit.edu	37	chr8	139658912	139658912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggccctggtaggcctggaGgcccagcctctccctgtatc	14	15	1	0			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr8:139658912G>A	ENST00000303045.6	-	47	3907	c.3461C>T	c.(3460-3462)cCt>cTt	p.P1154L	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1134L|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1154	Collagen-like 10.|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)			TAGGCCTGGAGGCCCAGCCTC	0.493										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.(3460-3462)cCt>cTt		collagen, type XXII, alpha 1							25	24	24					8																	139658912		2201	4292	6493	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139658912G>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.3461C>T	8.37:g.139658912G>A	ENSP00000303153:p.Pro1154Leu	HNSCC(7;0.00092)				COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.P1134L	p.P1154L	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		47	3907	-	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)		1154			Collagen-like 10.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.3461C>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	0.448	-0.894989	0.02491	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.97066	-4.23;-4.23	5.46	3.29	0.37713	.	0.427444	0.19785	N	0.106138	D	0.93877	0.8041	L	0.60904	1.88	0.21579	N	0.999636	B;B	0.06786	0.0;0.001	B;B	0.08055	0.002;0.003	D	0.85230	0.1032	10	0.28530	T	0.3	.	5.4872	0.16757	0.3327:0.0:0.6673:0.0	.	1134;1154	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	L	1154;1134;847	ENSP00000303153:P1154L;ENSP00000387655:P1134L	ENSP00000303153:P1154L	P	-	2	0	COL22A1	139728094	0.626000	0.27120	0.041000	0.18516	0.013000	0.08279	1.688000	0.37690	1.441000	0.47550	0.655000	0.94253	CCT		0.493	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		3	5	0	0	0	0.004672	0	3	5					A	139658912	G	A	139658912	3	1	429	1	0	0	0	0	1	0	0	0	3681	1000	35	2	1495	2	COL22A1	8	139658912	Missense_Mutation	SNP	G	TCGA-FY-A3NN-01A-11D-A21A-08		139658912	6705110	12	8775											
ZNF623	9831	broad.mit.edu	37	chr8	144733418	144733418	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacactggagaaaagccctAtgtgtgcagttattgtggga	12	7	1	1			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr8:144733418A>G	ENST00000501748.2	+	1	1465	c.1376A>G	c.(1375-1377)tAt>tGt	p.Y459C	ZNF623_ENST00000458270.2_Missense_Mutation_p.Y419C|ZNF623_ENST00000526926.1_Missense_Mutation_p.Y419C	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	459					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GAAAAGCCCTATGTGTGCAGT	0.443																																						ENST00000501748.2																			0				endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27						c.(1375-1377)tAt>tGt		zinc finger protein 623							98	94	95					8																	144733418		2203	4300	6503	SO:0001583	missense	9831				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144733418A>G	AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"Zinc fingers, C2H2-type"	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.1376A>G	8.37:g.144733418A>G	ENSP00000445979:p.Tyr459Cys					ZNF623_ENST00000526926.1_Missense_Mutation_p.Y419C|ZNF623_ENST00000458270.2_Missense_Mutation_p.Y419C	p.Y459C	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		1	1465	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		459					A4FU80|B4DGP3|E7ENV5	Missense_Mutation	SNP	ENST00000501748.2	37	c.1376A>G	CCDS34957.1	.	.	.	.	.	.	.	.	.	.	A	12.16	1.855414	0.32791	.	.	ENSG00000183309	ENST00000526926;ENST00000328466;ENST00000458270;ENST00000532796;ENST00000501748	T;T;T	0.69306	-0.39;-0.39;-0.39	4.65	3.44	0.39384	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.75852	0.3906	M	0.69463	2.115	0.25398	N	0.988464	D	0.89917	1.0	D	0.70935	0.971	T	0.63747	-0.6567	9	0.87932	D	0	-15.7182	5.4455	0.16533	0.6438:0.1815:0.0:0.1747	.	459	O75123	ZN623_HUMAN	C	419;419;419;459;459	ENSP00000435232:Y419C;ENSP00000411139:Y419C;ENSP00000445979:Y459C	ENSP00000330358:Y419C	Y	+	2	0	ZNF623	144804561	0.178000	0.23122	0.791000	0.31998	0.567000	0.35839	0.891000	0.28309	0.697000	0.31718	0.402000	0.26972	TAT		0.443	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	NM_014789		34	50	0	0	0	0.007835	0	34	50					G	144733418	A	G	144733418	3	3	429	1	0	0	0	0	1	0	0	0	18044	449	16	3	1378	3	ZNF623	8	144733418	Missense_Mutation	SNP	A	TCGA-FY-A3NN-01A-11D-A21A-08	5074506	144733418	1630604	13	8776											
SLC27A4	10999	broad.mit.edu	37	chr9	131112801	131112801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggtgtactatggattccGcatgcggcccaacgacatcg	11	13	0	0			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr9:131112801G>A	ENST00000300456.4	+	6	941	c.824G>A	c.(823-825)cGc>cAc	p.R275H	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	275					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						TATGGATTCCGCATGCGGCCC	0.607																																					Pancreas(107;1554 2241 10946 12953)	ENST00000300456.3																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						c.(823-825)cGc>cAc		solute carrier family 27 (fatty acid transporter), member 4							80	61	67					9																	131112801		2203	4300	6503	SO:0001583	missense	10999				long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding	g.chr9:131112801G>A	AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"Acyl-CoA synthetase family", "Solute carriers"	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.824G>A	9.37:g.131112801G>A	ENSP00000300456:p.Arg275His					SLC27A4_ENST00000372870.1_Intron	p.R275H	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN			6	941	+			275					A8K2F7|O95186|Q96G53	Missense_Mutation	SNP	ENST00000300456.4	37	c.824G>A	CCDS6899.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036047	0.54896	.	.	ENSG00000167114	ENST00000300456	T	0.50001	0.76	5.08	5.08	0.68730	AMP-dependent synthetase/ligase (1);	0.115675	0.56097	D	0.000026	T	0.65322	0.2680	M	0.66439	2.03	0.58432	D	0.999999	D	0.56521	0.976	P	0.61722	0.893	T	0.67604	-0.5628	10	0.62326	D	0.03	-17.7007	17.6262	0.88095	0.0:0.0:1.0:0.0	.	275	Q6P1M0	S27A4_HUMAN	H	275	ENSP00000300456:R275H	ENSP00000300456:R275H	R	+	2	0	SLC27A4	130152622	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	7.430000	0.80321	2.639000	0.89480	0.563000	0.77884	CGC		0.607	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054432.2			3	36	0	0	0	0.014758	0	3	36					A	131112801	G	A	131112801	3	1	429	1	0	0	0	0	1	0	0	0	14528	1087	38	1	842	1	SLC27A4	9	131112801	Missense_Mutation	SNP	G	TCGA-FY-A3NN-01A-11D-A21A-08		131112801	10100630	14	8777											
FGF3	2248	broad.mit.edu	37	chr11	69625427	69625427	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgtattatagcccagctcGtggatccgctccacaaactc	7	14	0	0			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr11:69625427G>A	ENST00000334134.2	-	3	456	c.366C>T	c.(364-366)caC>caT	p.H122H		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	122					anatomical structure morphogenesis (GO:0009653)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cardiac muscle tissue development (GO:0055026)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|post-anal tail morphogenesis (GO:0036342)|semicircular canal morphogenesis (GO:0048752)|signal transduction (GO:0007165)|thymus development (GO:0048538)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	growth factor activity (GO:0008083)	p.H122Q(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			AGCCCAGCTCGTGGATCCGCT	0.647																																						ENST00000334134.2																			1	Substitution - Missense(1)	p.H122Q(1)	lung(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13						c.(364-366)caC>caT		fibroblast growth factor 3							41	46	45					11																	69625427		2198	4289	6487	SO:0001819	synonymous_variant	2248				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity	g.chr11:69625427G>A		CCDS8195.1	11q13	2010-06-25	2010-06-25		ENSG00000186895	ENSG00000186895			3681	protein-coding gene	gene with protein product	"INT-2 proto-oncogene protein", "oncogene INT2", "V-INT2 murine mammary tumor virus integration site oncogene homolog", "murine mammary tumor virus integration site 2, mouse"	164950	"fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog)"	INT2			Standard	NM_005247		Approved	HBGF-3	uc001oph.3	P11487	OTTHUMG00000167888	ENST00000334134.2:c.366C>T	11.37:g.69625427G>A							p.H122H	NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		3	456	-			122					Q0VG69	Silent	SNP	ENST00000334134.2	37	c.366C>T	CCDS8195.1																																																																																				0.647	FGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396835.1	NM_005247		7	174	0	0	0	0.004482	0	7	174					A	69625427	G	A	69625427	2	1	429	1	0	0	0	0	0	0	0	1	5853	1136	40	1		1	FGF3	11	69625427	Silent	SNP	G	TCGA-FY-A3NN-01A-11D-A21A-08		69625427	65381089	15	8778											
KRT85	3891	broad.mit.edu	37	chr12	52756206	52756206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgggcatcgctgagggccGcctcaccctgctgctctgcc	13	17	2	1	rs143320259		TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr12:52756206G>A	ENST00000257901.3	-	7	1202	c.1127C>T	c.(1126-1128)gCg>gTg	p.A376V	KRT85_ENST00000544265.1_Missense_Mutation_p.A164V	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	376	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCTGAGGGCCGCCTCACCCTG	0.632													G|||	1	0.000199681	0	0	5008	,	,		17054	0		0	False		,,,				2504	0.001					ENST00000257901.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1126-1128)gCg>gTg		keratin 85		G	VAL/ALA	0,4406		0,0,2203	31	31	31		1127	4.1	0.9	12	dbSNP_134	31	2,8598		0,2,4298	no	missense	KRT85	NM_002283.3	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	376/508	52756206	2,13004	2203	4300	6503	SO:0001583	missense	3891				epidermis development	keratin filament	protein binding|structural molecule activity	g.chr12:52756206G>A	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"-", "Intermediate filaments type II, keratins (basic)"	6462	protein-coding gene	gene with protein product	"hard keratin type II"	602767	"keratin, hair, basic, 5"	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.1127C>T	12.37:g.52756206G>A	ENSP00000257901:p.Ala376Val					KRT85_ENST00000544265.1_Missense_Mutation_p.A164V	p.A376V	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	7	1202	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		376			Coil 2.|Rod.		Q9NSB1	Missense_Mutation	SNP	ENST00000257901.3	37	c.1127C>T	CCDS8824.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.468352	0.43839	0.0	2.33E-4	ENSG00000135443	ENST00000257901;ENST00000544265	T;D	0.89196	-0.89;-2.48	4.95	4.06	0.47325	Filament (1);	0.105232	0.42294	D	0.000727	T	0.80894	0.4711	L	0.35723	1.085	0.23346	N	0.997865	B	0.21688	0.059	B	0.26693	0.072	T	0.63778	-0.6560	10	0.17369	T	0.5	.	6.1959	0.20550	0.3308:0.0:0.6692:0.0	.	376	P78386	KRT85_HUMAN	V	376;164	ENSP00000257901:A376V;ENSP00000440240:A164V	ENSP00000257901:A376V	A	-	2	0	KRT85	51042473	0.105000	0.21958	0.934000	0.37439	0.755000	0.42902	2.723000	0.47277	1.104000	0.41587	0.561000	0.74099	GCG		0.632	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		4	68	0	0	0	0.001984	0	4	68					A	52756206	G	A	52756206	3	1	429	1	0	0	0	0	1	0	0	0	8499	1087	38	1	408	1	KRT85	12	52756206	Missense_Mutation	SNP	G	TCGA-FY-A3NN-01A-11D-A21A-08		52756206	81095689	16	8779											
AMHR2	269	broad.mit.edu	37	chr12	53818999	53819001	+	In_Frame_Del	DEL	CTG	CTG	-													tggggctgttcctcctcctcCtgctgctgctgggcagcatc							TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr12:53818999_53819001delCTG	ENST00000257863.4	+	4	555_557	c.475_477delCTG	c.(475-477)ctgdel	p.L162del	AMHR2_ENST00000550311.1_In_Frame_Del_p.L162del|AMHR2_ENST00000379791.3_In_Frame_Del_p.L162del	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	162					Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CCTCCTCCTCCTGCTGCTGCTGG	0.591																																						ENST00000257863.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34						c.(475-477)del		anti-Mullerian hormone receptor, type II	Adenosine triphosphate(DB00171)																																			SO:0001651	inframe_deletion	269				Mullerian duct regression		ATP binding|hormone binding|metal ion binding	g.chr12:53818999_53819001delCTG	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"Muellerian inhibiting substance type II receptor"	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.475_477delCTG	12.37:g.53819008_53819010delCTG	ENSP00000257863:p.Leu162del					AMHR2_ENST00000379791.3_In_Frame_Del_p.L162del|AMHR2_ENST00000550311.1_In_Frame_Del_p.L162del	p.L162del	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN			4	555_557	+			162					A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	In_Frame_Del	DEL	ENST00000257863.4	37	c.475_477delCTG	CCDS8858.1																																																																																				0.591	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547		7	257						7	257	---	---	---	---	-	53819001	CTG	-	53818999	7	5	429	1	0	1	0	1	0	0	0	0	573	680	24	0	489	0	AMHR2	12	53818999	In_Frame_Del	DEL	CTG	TCGA-FY-A3NN-01A-11D-A21A-08	1062793	53818999	80032896	17	8780											
F10	2159	broad.mit.edu	37	chr13	113803259	113803259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacggagcaggaggagggcGgtgaggcggtgcacgaggtg	22	7	0	1			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr13:113803259G>A	ENST00000375559.3	+	8	933	c.895G>A	c.(895-897)Ggt>Agt	p.G299S	F10_ENST00000409306.1_Silent_p.A297A|F10_ENST00000375551.3_Silent_p.A295A	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	299	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	GGAGGAGGGCGGTGAGGCGGT	0.602																																						ENST00000375559.3																			0				endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18						c.(895-897)Ggt>Agt		coagulation factor X	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)						167	140	149					13																	113803259		2203	4300	6503	SO:0001583	missense	2159				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	g.chr13:113803259G>A		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.895G>A	13.37:g.113803259G>A	ENSP00000364709:p.Gly299Ser					F10_ENST00000409306.1_Silent_p.A297A|F10_ENST00000375551.3_Silent_p.A295A	p.G299S	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)		8	933	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	299			Peptidase S1.		Q14340	Missense_Mutation	SNP	ENST00000375559.3	37	c.895G>A	CCDS9530.1	.	.	.	.	.	.	.	.	.	.	G	1.511	-0.549503	0.03996	.	.	ENSG00000126218	ENST00000375559	D	0.88509	-2.39	4.99	0.202	0.15190	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.381760	0.04666	N	0.409883	T	0.74974	0.3787	N	0.16201	0.385	0.09310	N	1	B	0.14805	0.011	B	0.06405	0.002	T	0.60697	-0.7212	10	0.08381	T	0.77	.	2.1398	0.03772	0.5024:0.1176:0.2656:0.1144	.	299	P00742	FA10_HUMAN	S	299	ENSP00000364709:G299S	ENSP00000364709:G299S	G	+	1	0	F10	112851260	0.024000	0.19004	0.017000	0.16124	0.135000	0.20990	0.808000	0.27154	-0.198000	0.10333	0.313000	0.20887	GGT		0.602	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3			6	321	0	0	0	0.004482	0	6	321					A	113803259	G	A	113803259	3	1	429	1	0	0	0	0	1	0	0	0	5336	1116	39	1	925	1	F10	13	113803259	Missense_Mutation	SNP	G	TCGA-FY-A3NN-01A-11D-A21A-08		113803259	1366619	18	8781											
TEP1	7011	broad.mit.edu	37	chr14	20854270	20854270	+	Frame_Shift_Del	DEL	G	G	-													tggtcaggaaggttgtagctGgggggaatgtatccataacg							TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr14:20854270delG	ENST00000262715.5	-	20	2986	c.2946delC	c.(2944-2946)cccfs	p.P982fs	TEP1_ENST00000556935.1_Frame_Shift_Del_p.P874fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	982					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)		GGTTGTAGCTGGGGGGAATGT	0.557																																						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.(2944-2946)ccfs		telomerase-associated protein 1							124	120	122					14																	20854270		2203	4300	6503	SO:0001589	frameshift_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20854270delG		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.2946delC	14.37:g.20854270delG	ENSP00000262715:p.Pro982fs					TEP1_ENST00000556935.1_Frame_Shift_Del_p.P874fs	p.P982fs	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)	20	2986	-	all_cancers(95;0.00123)	all_lung(585;0.235)	982					A0AUV9	Frame_Shift_Del	DEL	ENST00000262715.5	37	c.2946delC	CCDS9548.1																																																																																				0.557	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		7	238						7	238	---	---	---	---	-	20854270	G	-	20854270	7	5	429	1	0	1	0	1	0	0	0	0	15756	1335	47	0	5081	0	TEP1	14	20854270	Frame_Shift_Del	DEL	G	TCGA-FY-A3NN-01A-11D-A21A-08		20854270	86495270	19	8782											
STON2	85439	broad.mit.edu	37	chr14	81743303	81743303	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggagttgaaggcatgctcGtacttggcagttcccagagt	13	8	0	2			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr14:81743303G>A	ENST00000267540.2	-	4	2552	c.2352C>T	c.(2350-2352)taC>taT	p.Y784Y	STON2_ENST00000556280.1_5'Flank|STON2_ENST00000555447.1_Silent_p.Y784Y	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	784	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AGGCATGCTCGTACTTGGCAG	0.493																																						ENST00000555447.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34						c.(2350-2352)taC>taT		stonin 2							124	123	124					14																	81743303		2203	4300	6503	SO:0001819	synonymous_variant	85439				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	g.chr14:81743303G>A	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"stoned B homolog 2 (Drosophila)"	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.2352C>T	14.37:g.81743303G>A						STON2_ENST00000267540.2_Silent_p.Y784Y	p.Y784Y	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	6	2764	-			784			MHD.		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Silent	SNP	ENST00000267540.2	37	c.2352C>T	CCDS9875.1																																																																																				0.493	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		5	166	0	0	0	0.001984	0	5	166					A	81743303	G	A	81743303	2	1	429	1	0	0	0	0	0	0	0	1	15317	1140	40	1		1	STON2	14	81743303	Silent	SNP	G	TCGA-FY-A3NN-01A-11D-A21A-08	60889033	81743303	25606237	20	8783											
ARIH1	25820	broad.mit.edu	37	chr15	72767235	72767235	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggcggcggcggcggcggCggtggtggtggcgggccggg	28	10	0	0			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr15:72767235C>T	ENST00000379887.4	+	1	569	c.255C>T	c.(253-255)ggC>ggT	p.G85G	RP11-1007O24.3_ENST00000565181.1_lincRNA	NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	85	Gly-rich.				cytokine-mediated signaling pathway (GO:0019221)|protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ubiquitin ligase complex (GO:0000151)	small conjugating protein ligase activity (GO:0019787)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						gcggcggcggcggtggtggtg	0.736																																						ENST00000379887.4																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						c.(253-255)ggC>ggT		ariadne RBR E3 ubiquitin protein ligase 1							4	3	3					15																	72767235		1491	2998	4489	SO:0001819	synonymous_variant	25820				ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:72767235C>T	AF072832	CCDS10244.1	15q24	2013-10-03	2013-10-03		ENSG00000166233	ENSG00000166233			689	protein-coding gene	gene with protein product	"ariadne, Drosophila, homolog of"	605624	"ariadne (Drosophila) homolog, ubiquitin-conjugating enzyme E2-binding protein, 1", "ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila)"			10521492, 24058416	Standard	NM_005744		Approved	HARI, HHARI, UBCH7BP, ARI	uc002aut.4	Q9Y4X5	OTTHUMG00000133474	ENST00000379887.4:c.255C>T	15.37:g.72767235C>T						RP11-1007O24.3_ENST00000565181.1_lincRNA	p.G85G	NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN			1	569	+			85			Gly-rich.		B2R6U3|O76026|Q9H3T6|Q9UEN0|Q9UP39	Silent	SNP	ENST00000379887.4	37	c.255C>T	CCDS10244.1																																																																																				0.736	ARIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257350.1	NM_005744		3	26	0	0	0	0.004672	0	3	26					T	72767235	C	T	72767235	2	4	429	1	0	0	0	0	0	0	0	1	923	755	27	1		1	ARIH1	15	72767235	Silent	SNP	C	TCGA-FY-A3NN-01A-11D-A21A-08		72767235	29764157	21	8784											
ITGAM	3684	broad.mit.edu	37	chr16	31336828	31336828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgccttccagaaccagcGctcacagcgatcctggcgcc	9	19	1	1			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr16:31336828G>A	ENST00000287497.8	+	21	2588	c.2513G>A	c.(2512-2514)cGc>cAc	p.R838H	ITGAM_ENST00000544665.3_Missense_Mutation_p.R839H			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	838					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						CAGAACCAGCGCTCACAGCGA	0.602																																						ENST00000544665.3																			0				endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(2515-2517)cGc>cAc		integrin, alpha M (complement component 3 receptor 3 subunit)							63	67	66					16																	31336828		2089	4212	6301	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31336828G>A	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.2513G>A	16.37:g.31336828G>A	ENSP00000287497:p.Arg838His					ITGAM_ENST00000287497.8_Missense_Mutation_p.R838H	p.R839H	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN			21	2587	+			838					Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.2516G>A	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	G	6.214	0.407693	0.11754	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.47177	0.85;0.85	4.87	-9.74	0.00509	Integrin alpha-2 (1);	.	.	.	.	T	0.23171	0.0560	L	0.34521	1.04	0.09310	N	1	B;B;B	0.22080	0.064;0.02;0.02	B;B;B	0.18561	0.015;0.022;0.022	T	0.11012	-1.0605	9	0.13853	T	0.58	.	2.2913	0.04139	0.4962:0.1783:0.1195:0.206	.	244;838;838	B3KXM6;Q4VAK1;P11215	.;.;ITAM_HUMAN	H	839;838	ENSP00000441691:R839H;ENSP00000287497:R838H	ENSP00000287497:R838H	R	+	2	0	ITGAM	31244329	0.000000	0.05858	0.000000	0.03702	0.151000	0.21798	-2.251000	0.01186	-2.754000	0.00373	-1.008000	0.02478	CGC		0.602	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		36	48	0	0	0	0.009718	0	36	48					A	31336828	G	A	31336828	3	1	429	1	0	0	0	0	1	0	0	0	7887	1087	38	1	2598	1	ITGAM	16	31336828	Missense_Mutation	SNP	G	TCGA-FY-A3NN-01A-11D-A21A-08		31336828	59017925	22	8785											
KRT33A	3883	broad.mit.edu	37	chr17	39504836	39504836	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctcatccaggatcctgcGcaggccattgatgtccgact	10	14	1	1	rs367617704		TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr17:39504836G>A	ENST00000007735.3	-	3	531	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	163	Coil 1B.|Rod.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				AGGATCCTGCGCAGGCCATTG	0.607																																						ENST00000007735.3																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(487-489)Cgc>Tgc		keratin 33A		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	93	85	88		487	4.3	1.0	17		88	0,8600		0,0,4300	no	missense	KRT33A	NM_004138.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	163/405	39504836	1,13005	2203	4300	6503	SO:0001583	missense	3883					intermediate filament	protein binding|structural molecule activity	g.chr17:39504836G>A	Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"-", "Intermediate filaments type I, keratins (acidic)"	6450	protein-coding gene	gene with protein product	"hard keratin type I 3I"	602761	"keratin, hair, acidic, 3A"	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.487C>T	17.37:g.39504836G>A	ENSP00000007735:p.Arg163Cys						p.R163C	NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN			3	531	-		Breast(137;0.000496)	163			Coil 1B.|Rod.		B2RA87|Q6NTB9|Q6ZZB9	Missense_Mutation	SNP	ENST00000007735.3	37	c.487C>T	CCDS11388.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269490	0.80469	2.27E-4	0.0	ENSG00000006059	ENST00000007735	D	0.92545	-3.06	5.26	4.29	0.51040	Filament (1);	0.000000	0.64402	D	0.000003	D	0.95626	0.8578	M	0.78916	2.43	0.51767	D	0.999938	D	0.89917	1.0	D	0.81914	0.995	D	0.96132	0.9093	10	0.87932	D	0	.	14.6213	0.68588	0.0:0.0:0.8536:0.1464	.	163	O76009	KT33A_HUMAN	C	163	ENSP00000007735:R163C	ENSP00000007735:R163C	R	-	1	0	KRT33A	36758362	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.890000	0.39728	1.445000	0.47624	0.655000	0.94253	CGC		0.607	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257295.1	NM_004138		4	170	0	0	0	0.009096	0	4	170					A	39504836	G	A	39504836	3	1	429	1	0	0	0	0	1	0	0	0	8469	1087	38	1	747	1	KRT33A	17	39504836	Missense_Mutation	SNP	G	TCGA-FY-A3NN-01A-11D-A21A-08		39504836	41690374	23	8786											
PPM1D	8493	broad.mit.edu	37	chr17	58740503	58740503	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgtagtcataccctcaaaaGatccagaaccacttgaagaa	7	10	2	4	rs377665493		TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr17:58740503G>A	ENST00000305921.3	+	6	1640	c.1408G>A	c.(1408-1410)Gat>Aat	p.D470N	RNU6-623P_ENST00000363143.1_RNA	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	470					G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			ACCCTCAAAAGATCCAGAACC	0.423											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000305921.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15						c.(1408-1410)Gat>Aat		protein phosphatase, Mg2+/Mn2+ dependent, 1D		G	ASN/ASP	0,4406		0,0,2203	105	99	101		1408	5.1	1.0	17		101	1,8599	1.2+/-3.3	0,1,4299	no	missense	PPM1D	NM_003620.3	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	470/606	58740503	1,13005	2203	4300	6503	SO:0001583	missense	8493				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr17:58740503G>A	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9277	protein-coding gene	gene with protein product	"wild-type p53-induced phosphatase 1", "protein phosphatase 2C, delta isoform"	605100	"protein phosphatase 1D magnesium-dependent, delta isoform"			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.1408G>A	17.37:g.58740503G>A	ENSP00000306682:p.Asp470Asn		OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1033		p.D470N	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		6	1640	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		470					Q53XP4|Q6P991|Q8IVR6	Missense_Mutation	SNP	ENST00000305921.3	37	c.1408G>A	CCDS11625.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.723430	0.48728	0.0	1.16E-4	ENSG00000170836	ENST00000305921	T	0.51325	0.71	6.08	5.12	0.69794	.	0.185848	0.56097	D	0.000035	T	0.35828	0.0945	L	0.32530	0.975	0.36022	D	0.838805	B	0.15141	0.012	B	0.09377	0.004	T	0.36866	-0.9730	10	0.30078	T	0.28	-21.112	11.4126	0.49933	0.1372:0.0:0.8628:0.0	.	470	O15297	PPM1D_HUMAN	N	470	ENSP00000306682:D470N	ENSP00000306682:D470N	D	+	1	0	PPM1D	56095285	1.000000	0.71417	1.000000	0.80357	0.186000	0.23388	5.031000	0.64134	1.591000	0.50007	0.591000	0.81541	GAT		0.423	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620		3	59	0	0	0	0.004672	0	3	59					A	58740503	G	A	58740503	3	1	429	1	0	0	0	0	1	0	0	0	12337	942	33	2	1430	2	PPM1D	17	58740503	Missense_Mutation	SNP	G	TCGA-FY-A3NN-01A-11D-A21A-08	19235667	58740503	22454707	24	8787											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290	byFrequency	TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		neuroblastoma RAS viral (v-ras) oncogene homolog							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		39	71	0	0	0	1	0	39	71					C	115256529	T	C	115256529	3	2	430	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-FY-A3NP-01A-11D-A21A-08		115256529	133994092	1	8788											
ATP1A2	477	broad.mit.edu	37	chr1	160106465	160106465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcctcgactgggatgaccGgaccatgaatgatctggagg	14	11	1	3			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr1:160106465G>A	ENST00000361216.3	+	19	2758	c.2669G>A	c.(2668-2670)cGg>cAg	p.R890Q	ATP1A2_ENST00000392233.3_Missense_Mutation_p.R890Q	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	890					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGGGATGACCGGACCATGAAT	0.552																																						ENST00000361216.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(2668-2670)cGg>cAg		ATPase, Na+/K+ transporting, alpha 2 polypeptide							97	87	91					1																	160106465		2203	4300	6503	SO:0001583	missense	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160106465G>A	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"ATPases / P-type"	800	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-2", "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2"	182340	"migraine, hemiplegic 2", "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.2669G>A	1.37:g.160106465G>A	ENSP00000354490:p.Arg890Gln					ATP1A2_ENST00000392233.3_Missense_Mutation_p.R890Q|ATP1A2_ENST00000472488.1_3'UTR	p.R890Q	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		19	2758	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		890					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	c.2669G>A	CCDS1196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.35|17.35	3.367881|3.367881	0.61513|0.61513	.|.	.|.	ENSG00000018625|ENSG00000018625	ENST00000447527|ENST00000361216;ENST00000392233;ENST00000435866	.|D;D	.|0.88664	.|-2.41;-2.41	4.71|4.71	4.71|4.71	0.59529|0.59529	.|ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79441|0.79441	0.4446|0.4446	L|L	0.43757|0.43757	1.38|1.38	0.48452|0.48452	D|D	0.999657|0.999657	.|B;B	.|0.18610	.|0.029;0.015	.|B;B	.|0.15870	.|0.013;0.014	T|T	0.76353|0.76353	-0.2990|-0.2990	5|10	.|0.38643	.|T	.|0.18	.|.	15.5314|15.5314	0.75964|0.75964	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|790;890	.|F5GXJ7;P50993	.|.;AT1A2_HUMAN	R|Q	584|890;890;593	.|ENSP00000354490:R890Q;ENSP00000376066:R890Q	.|ENSP00000354490:R890Q	G|R	+|+	1|2	0|0	ATP1A2|ATP1A2	158373089|158373089	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	4.368000|4.368000	0.59505|0.59505	2.590000|2.590000	0.87494|0.87494	0.561000|0.561000	0.74099|0.74099	GGA|CGG		0.552	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		3	61	0	0	0	1	0	3	61					A	160106465	G	A	160106465	3	1	430	1	0	0	0	0	1	0	0	0	1129	1116	39	1	2743	1	ATP1A2	1	160106465	Missense_Mutation	SNP	G	TCGA-FY-A3NP-01A-11D-A21A-08	44849936	160106465	89144156	2	8789											
KCNH7	90134	broad.mit.edu	37	chr2	163302758	163302758	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagaatagccacattctcGtcttttctgttcttctctgt	5	11	5	1			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr2:163302758G>A	ENST00000332142.5	-	7	1423	c.1324C>T	c.(1324-1326)Cga>Tga	p.R442*	KCNH7_ENST00000328032.4_Nonsense_Mutation_p.R435*	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	442					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.R442*(1)|p.R435*(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CCACATTCTCGTCTTTTCTGT	0.383																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			2	Substitution - Nonsense(2)	p.R442*(1)|p.R435*(1)	endometrium(2)	NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(1324-1326)Cga>Tga		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						93	81	85					2																	163302758		2203	4299	6502	SO:0001587	stop_gained	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163302758G>A	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1324C>T	2.37:g.163302758G>A	ENSP00000331727:p.Arg442*					KCNH7_ENST00000328032.4_Nonsense_Mutation_p.R435*	p.R442*	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			7	1423	-			442					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Nonsense_Mutation	SNP	ENST00000332142.5	37	c.1324C>T	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	37	6.064184	0.97251	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	.	.	.	5.7	2.47	0.30058	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.6513	0.85203	0.0:0.0:0.61:0.39	.	.	.	.	X	442;435	.	ENSP00000333781:R435X	R	-	1	2	KCNH7	163011004	0.998000	0.40836	0.995000	0.50966	0.996000	0.88848	2.511000	0.45476	0.697000	0.31718	0.650000	0.86243	CGA		0.383	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		15	16	0	0	0	1	0	15	16					A	163302758	G	A	163302758	4	1	430	1	0	0	0	0	0	1	0	0	8037	1153	40	1	2372	1	KCNH7	2	163302758	Nonsense_Mutation	SNP	G	TCGA-FY-A3NP-01A-11D-A21A-08		163302758	79896615	3	8790											
LETM1	3954	broad.mit.edu	37	chr4	1843468	1843468	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccaacagccgaggtgatcgCctctggaggatgtgtacaca	12	12	1	1			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr4:1843468C>A	ENST00000302787.2	-	3	496	c.200G>T	c.(199-201)gGc>gTc	p.G67V		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	67					cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			GAGGTGATCGCCTCTGGAGGA	0.552																																						ENST00000302787.2																			0				breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(199-201)gGc>gTc		leucine zipper-EF-hand containing transmembrane protein 1							54	55	55					4																	1843468		2203	4300	6503	SO:0001583	missense	3954				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr4:1843468C>A	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"EF-hand domain containing"	6556	protein-coding gene	gene with protein product	"Mdm38 homolog (yeast)"	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.200G>T	4.37:g.1843468C>A	ENSP00000305653:p.Gly67Val						p.G67V	NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		3	496	-			67					B4DED2|Q9UF65	Missense_Mutation	SNP	ENST00000302787.2	37	c.200G>T	CCDS3355.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.269859	0.23221	.	.	ENSG00000168924	ENST00000302787;ENST00000417150	.	.	.	4.3	-0.546	0.11840	.	1.583540	0.02965	N	0.143641	T	0.24547	0.0595	L	0.36672	1.1	0.09310	N	0.999999	P;B	0.34724	0.465;0.335	B;B	0.31101	0.124;0.058	T	0.08066	-1.0740	9	0.12430	T	0.62	-1.353	5.3765	0.16168	0.0:0.3268:0.2717:0.4015	.	67;67	O95202-3;O95202	.;LETM1_HUMAN	V	67;27	.	ENSP00000305653:G67V	G	-	2	0	LETM1	1813266	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.517000	0.06275	-0.393000	0.07739	0.563000	0.77884	GGC		0.552	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			7	26	1	0	5.18039e-06	1	5.82794e-06	7	26					A	1843468	C	A	1843468	3	1	430	1	0	0	0	0	1	0	0	0	8734	739	26	4	2067	4	LETM1	4	1843468	Missense_Mutation	SNP	C	TCGA-FY-A3NP-01A-11D-A21A-08		1843468	189310808	4	8791											
ENPEP	2028	broad.mit.edu	37	chr4	111398204	111398204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaccacctacacggagaacGgacaagtcaagtaaatatta	8	9	1	1			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr4:111398204G>A	ENST00000265162.5	+	1	976	c.634G>A	c.(634-636)Gga>Aga	p.G212R		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	212					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		CACGGAGAACGGACAAGTCAA	0.453																																						ENST00000265162.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(634-636)Gga>Aga		glutamyl aminopeptidase (aminopeptidase A)	L-Glutamic Acid(DB00142)						37	41	40					4																	111398204		2203	4299	6502	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111398204G>A	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"CD molecules"	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.634G>A	4.37:g.111398204G>A	ENSP00000265162:p.Gly212Arg						p.G212R	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	1	976	+		Hepatocellular(203;0.217)	212					Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.634G>A	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759380	0.69763	.	.	ENSG00000138792	ENST00000265162	T	0.05786	3.39	5.57	3.83	0.44106	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.261632	0.39146	N	0.001444	T	0.28034	0.0691	M	0.90814	3.15	0.52501	D	0.999959	D	0.76494	0.999	D	0.68765	0.96	T	0.13045	-1.0524	10	0.87932	D	0	.	11.4987	0.50424	0.1445:0.0:0.8555:0.0	.	212	Q07075	AMPE_HUMAN	R	212	ENSP00000265162:G212R	ENSP00000265162:G212R	G	+	1	0	ENPEP	111617653	1.000000	0.71417	0.077000	0.20336	0.918000	0.54935	6.323000	0.72891	1.342000	0.45619	0.655000	0.94253	GGA		0.453	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			7	32	0	0	0	1	0	7	32					A	111398204	G	A	111398204	3	1	430	1	0	0	0	0	1	0	0	0	5128	1117	39	1	636	1	ENPEP	4	111398204	Missense_Mutation	SNP	G	TCGA-FY-A3NP-01A-11D-A21A-08	109554736	111398204	79756072	5	8792											
FBXW4	6468	broad.mit.edu	37	chr10	103454358	103454360	+	In_Frame_Del	DEL	CCT	CCT	-													ggcagccgactcccgagccgCctcctcctcctcctcctcct					rs575669609		TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr10:103454358_103454360delCCT	ENST00000331272.7	-	1	656_658	c.38_40delAGG	c.(37-42)gaggcg>gcg	p.E13del		NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	13					cartilage development (GO:0051216)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|positive regulation of mesenchymal cell proliferation (GO:0002053)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	ubiquitin ligase complex (GO:0000151)				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		TCCCGAGCCGcctcctcctcctc	0.754																																						ENST00000331272.7																			0				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15						c.(37-42)gcg>g		F-box and WD repeat domain containing 4				56,23,1443		15,1,25,7,8,705						0.5	0.1			2	125,1,3398		27,0,71,0,1,1663	no	codingComplex	FBXW4	NM_022039.3		42,1,96,7,9,2368	A1A1,A1A2,A1R,A2A2,A2R,RR		3.5755,5.1905,4.0626				181,24,4841				SO:0001651	inframe_deletion	6468				ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	ubiquitin ligase complex		g.chr10:103454358_103454360delCCT	AF281859	CCDS31271.1	10q24	2013-01-09	2007-02-08	2005-03-12	ENSG00000107829	ENSG00000107829		"F-boxes / WD-40 domains", "WD repeat domain containing"	10847	protein-coding gene	gene with protein product		608071	"split hand/foot malformation (ectrodactyly) type 3", "F-box and WD-40 domain protein 4"	SHFM3		8723077, 7912888	Standard	XM_005270053		Approved	Fbw4, dactylin	uc001kto.3	P57775	OTTHUMG00000018938	ENST00000331272.7:c.38_40delAGG	10.37:g.103454367_103454369delCCT	ENSP00000359149:p.Glu13del						p.EA13del	NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)	1	656_658	-		Colorectal(252;0.123)	13					Q5SVS1|Q96IM6	In_Frame_Del	DEL	ENST00000331272.7	37	c.38_40delAGG	CCDS31271.1																																																																																				0.754	FBXW4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049979.2	NM_022039		2	4						2	4	---	---	---	---	-	103454360	CCT	-	103454358	7	5	430	1	0	1	0	1	0	0	0	0	5767	739	26	0	1234	0	FBXW4	10	103454358	In_Frame_Del	DEL	CCT	TCGA-FY-A3NP-01A-11D-A21A-08		103454358	32080389	6	8793											
FRG2B	441581	broad.mit.edu	37	chr10	135440166	135440166	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagcccttttctgtaaaggaGatctgttggaaagggggctg	15	6	2	1			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr10:135440166G>T	ENST00000425520.1	-	1	133	c.81C>A	c.(79-81)atC>atA	p.I27I	FRG2B_ENST00000443774.1_Silent_p.I27I	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	27						nucleus (GO:0005634)				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CTGTAAAGGAGATCTGTTGGA	0.488																																						ENST00000443774.1																			0				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20						c.(79-81)atC>atA		FSHD region gene 2 family, member B							34	49	44					10																	135440166		2072	4141	6213	SO:0001819	synonymous_variant	441581					nucleus		g.chr10:135440166G>T	AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.81C>A	10.37:g.135440166G>T						FRG2B_ENST00000425520.1_Silent_p.I27I	p.I27I			Q96QU4	FRG2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	1	130	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	27					Q5VSQ1	Silent	SNP	ENST00000425520.1	37	c.81C>A	CCDS44502.1																																																																																				0.488	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		8	66	1	0	0.0809354	1	0.0856963	8	66					T	135440166	G	T	135440166	2	4	430	1	0	0	0	0	0	0	0	1	6047	932	33	4		4	FRG2B	10	135440166	Silent	SNP	G	TCGA-FY-A3NP-01A-11D-A21A-08	31985808	135440166	94581	7	8794											
PLXNC1	10154	broad.mit.edu	37	chr12	94641772	94641772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtcactgtgaagctgagaGtacaagacacctacttggat	10	8	1	3			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr12:94641772G>A	ENST00000258526.4	+	13	2731	c.2482G>A	c.(2482-2484)Gta>Ata	p.V828I		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	828					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GAAGCTGAGAGTACAAGACAC	0.507																																						ENST00000258526.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2482-2484)Gta>Ata		plexin C1							109	103	105					12																	94641772		2203	4300	6503	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94641772G>A	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"CD molecules", "Plexins"	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.2482G>A	12.37:g.94641772G>A	ENSP00000258526:p.Val828Ile						p.V828I	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN			13	2731	+			828					Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.2482G>A	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441245	0.63067	.	.	ENSG00000136040	ENST00000258526	T	0.08282	3.11	6.16	6.16	0.99307	Cell surface receptor IPT/TIG (2);	0.064498	0.64402	D	0.000009	T	0.21881	0.0527	L	0.36672	1.1	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.00034	-1.2264	10	0.51188	T	0.08	.	18.0158	0.89239	0.0:0.0:1.0:0.0	.	828	O60486	PLXC1_HUMAN	I	828	ENSP00000258526:V828I	ENSP00000258526:V828I	V	+	1	0	PLXNC1	93165903	1.000000	0.71417	0.147000	0.22382	0.132000	0.20833	5.581000	0.67471	2.937000	0.99478	0.650000	0.86243	GTA		0.507	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			3	38	0	0	0	1	0	3	38					A	94641772	G	A	94641772	3	1	430	1	0	0	0	0	1	0	0	0	12126	1029	36	2	2532	2	PLXNC1	12	94641772	Missense_Mutation	SNP	G	TCGA-FY-A3NP-01A-11D-A21A-08		94641772	39210123	8	8795											
OAS3	4940	broad.mit.edu	37	chr12	113403801	113403801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgatgctggaccagagtgtgGactttgatgtgctgccagcc	14	10	0	2			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr12:113403801G>A	ENST00000228928.7	+	12	2835	c.2656G>A	c.(2656-2658)Gac>Aac	p.D886N	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	886	OAS domain 3.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CCAGAGTGTGGACTTTGATGT	0.582																																						ENST00000228928.7																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						c.(2656-2658)Gac>Aac		2'-5'-oligoadenylate synthetase 3, 100kDa							48	51	50					12																	113403801		2097	4229	6326	SO:0001583	missense	4940				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113403801G>A	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"2'-5'-oligoadenylate synthetase 3 (100 kD)"			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.2656G>A	12.37:g.113403801G>A	ENSP00000228928:p.Asp886Asn					RP1-71H24.1_ENST00000552784.1_RNA	p.D886N	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN			12	2835	+			886			OAS domain 3.		Q2HJ14|Q9H3P5	Missense_Mutation	SNP	ENST00000228928.7	37	c.2656G>A	CCDS44981.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.30|17.30	3.353763|3.353763	0.61293|0.61293	.|.	.|.	ENSG00000111331|ENSG00000111331	ENST00000228928;ENST00000323881|ENST00000546973	T|.	0.09255|.	3.0|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.000000|.	0.35677|.	U|.	0.003043|.	T|.	0.59266|.	0.2181|.	L|L	0.41710|0.41710	1.295|1.295	0.80722|0.80722	D|D	1|1	P|.	0.43750|.	0.816|.	B|.	0.39805|.	0.31|.	T|.	0.55263|.	-0.8168|.	10|.	0.51188|.	T|.	0.08|.	.|.	14.5781|14.5781	0.68265|0.68265	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	886|.	Q9Y6K5|.	OAS3_HUMAN|.	N|X	886;885|57	ENSP00000228928:D886N|.	ENSP00000228928:D886N|.	D|W	+|+	1|3	0|0	OAS3|OAS3	111888184|111888184	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	3.856000|3.856000	0.55964|0.55964	2.494000|2.494000	0.84150|0.84150	0.655000|0.655000	0.94253|0.94253	GAC|TGG		0.582	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			15	18	0	0	0	1	0	15	18					A	113403801	G	A	113403801	3	1	430	1	0	0	0	0	1	0	0	0	10801	1174	41	2	2702	2	OAS3	12	113403801	Missense_Mutation	SNP	G	TCGA-FY-A3NP-01A-11D-A21A-08	18762029	113403801	20448094	9	8796											
C14orf145	145508	broad.mit.edu	37	chr14	81371163	81371163	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atggtacaaagtacctgagtCatatcatcagtctcttgaac	7	9	4	2			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr14:81371163C>A	ENST00000555265.1	-	6	849	c.474G>T	c.(472-474)atG>atT	p.M158I	CEP128_ENST00000216517.6_Missense_Mutation_p.M158I|CEP128_ENST00000327841.2_Missense_Mutation_p.M98I|CEP128_ENST00000281129.3_Missense_Mutation_p.M158I			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	158						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GTACCTGAGTCATATCATCAG	0.378																																						ENST00000555265.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(472-474)atG>atT		centrosomal protein 128kDa							155	139	144					14																	81371163		2203	4300	6503	SO:0001583	missense	145508					centriole|spindle pole		g.chr14:81371163C>A	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 61", "chromosome 14 open reading frame 145"	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.474G>T	14.37:g.81371163C>A	ENSP00000451162:p.Met158Ile					CEP128_ENST00000281129.3_Missense_Mutation_p.M158I|CEP128_ENST00000327841.2_Missense_Mutation_p.M98I|CEP128_ENST00000216517.6_Missense_Mutation_p.M158I	p.M158I			Q6ZU80	CE128_HUMAN			6	849	-			158					B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	c.474G>T	CCDS32130.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.992|1.992	-0.431440|-0.431440	0.04669|0.04669	.|.	.|.	ENSG00000100629|ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619;ENST00000216517;ENST00000327841;ENST00000555529|ENST00000554827	T;T;T;T|.	0.44482|.	1.52;1.52;0.92;0.94|.	5.82|5.82	3.9|3.9	0.45041|0.45041	.|.	0.903130|.	0.09675|.	N|.	0.770642|.	T|.	0.20007|.	0.0481|.	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;B;B|.	0.10296|.	0.003;0.002;0.002|.	B;B;B|.	0.11329|.	0.006;0.006;0.002|.	T|.	0.15093|.	-1.0449|.	10|.	0.37606|.	T|.	0.19|.	.|.	4.7905|4.7905	0.13247|0.13247	0.1729:0.6549:0.0:0.1721|0.1729:0.6549:0.0:0.1721	.|.	158;39;158|.	Q6ZU80-3;Q8N3Z7;Q6ZU80|.	.;.;CE128_HUMAN|.	I|L	158;158;158;158;98;158|37	ENSP00000281129:M158I;ENSP00000451162:M158I;ENSP00000216517:M158I;ENSP00000451137:M158I|.	ENSP00000216517:M158I|.	M|X	-|-	3|2	0|2	CEP128|CEP128	80440916|80440916	0.000000|0.000000	0.05858|0.05858	0.909000|0.909000	0.35828|0.35828	0.009000|0.009000	0.06853|0.06853	0.448000|0.448000	0.21726|0.21726	1.469000|1.469000	0.48083|0.48083	0.585000|0.585000	0.79938|0.79938	ATG|TGA		0.378	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		3	50	1	0	1	1	1	3	50					A	81371163	C	A	81371163	3	1	430	1	0	0	0	0	1	0	0	0	1749	826	29	4	2890	4	C14orf145	14	81371163	Missense_Mutation	SNP	C	TCGA-FY-A3NP-01A-11D-A21A-08		81371163	25978377	10	8797											
RANBP10	57610	broad.mit.edu	37	chr16	67762359	67762359	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attaacaatgcgtgtggacaTgcttcctagcacaccgttgg	10	10	0	0			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr16:67762359T>A	ENST00000317506.3	-	11	1523	c.1408A>T	c.(1408-1410)Atg>Ttg	p.M470L	RANBP10_ENST00000536251.1_Missense_Mutation_p.M241L|RANBP10_ENST00000602677.1_Missense_Mutation_p.M500L|RANBP10_ENST00000448631.2_Missense_Mutation_p.M444L|RANBP10_ENST00000411657.2_Missense_Mutation_p.M383L	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	470					microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		CGTGTGGACATGCTTCCTAGC	0.582																																						ENST00000317506.3																			0				endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23						c.(1408-1410)Atg>Ttg		RAN binding protein 10							205	136	160					16																	67762359		2198	4300	6498	SO:0001583	missense	57610							g.chr16:67762359T>A	AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.1408A>T	16.37:g.67762359T>A	ENSP00000316589:p.Met470Leu					RANBP10_ENST00000536251.1_Missense_Mutation_p.M241L|RANBP10_ENST00000448631.2_Missense_Mutation_p.M444L|RANBP10_ENST00000411657.2_Missense_Mutation_p.M383L|RANBP10_ENST00000602677.1_Missense_Mutation_p.M500L	p.M470L	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)	11	1523	-		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)	470					A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Missense_Mutation	SNP	ENST00000317506.3	37	c.1408A>T	CCDS32469.1	.	.	.	.	.	.	.	.	.	.	T	16.05	3.013450	0.54468	.	.	ENSG00000141084	ENST00000317506;ENST00000448631;ENST00000536251;ENST00000411657	.	.	.	5.87	-1.19	0.09585	.	0.372776	0.31279	N	0.007923	T	0.23451	0.0567	N	0.08118	0	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.002	T	0.02070	-1.1219	9	0.27082	T	0.32	-4.8927	4.7241	0.12933	0.2392:0.3967:0.0:0.364	.	383;444;470	B4DID0;B4DQH9;Q6VN20	.;.;RBP10_HUMAN	L	470;444;241;383	.	ENSP00000316589:M470L	M	-	1	0	RANBP10	66319860	1.000000	0.71417	0.978000	0.43139	0.949000	0.60115	2.808000	0.47963	-0.011000	0.14247	0.533000	0.62120	ATG		0.582	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467896.1	NM_020850		18	40	0	0	0	1	0	18	40					A	67762359	T	A	67762359	3	1	430	1	0	0	0	0	1	0	0	0	13026	1464	51	5	470	5	RANBP10	16	67762359	Missense_Mutation	SNP	T	TCGA-FY-A3NP-01A-11D-A21A-08		67762359	22592394	11	8798											
PCSK4	92840	broad.mit.edu	37	chr19	1490315	1490315	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagggccaagaccaggcGcagccacagcgcaatcgggg	16	14	0	1			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr19:1490315G>A	ENST00000233596.3	+	0	0				PCSK4_ENST00000300954.5_Missense_Mutation_p.R11C|PCSK4_ENST00000587784.1_Intron	NM_138393.1	NP_612402.1	Q96HR9	REEP6_HUMAN	receptor accessory protein 6						regulation of intracellular transport (GO:0032386)	apical part of cell (GO:0045177)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				lung(1)|ovary(1)	2		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		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)		AAGACCAGGCGCAGCCACAGC	0.751																																						ENST00000300954.5																			0				cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(31-33)Cgc>Tgc		proprotein convertase subtilisin/kexin type 4							3	4	4					19																	1490315		1925	3864	5789	SO:0001631	upstream_gene_variant	54760				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr19:1490315G>A	BC008201	CCDS12070.1	19p13.3	2012-12-20	2006-02-08	2006-02-07	ENSG00000115255	ENSG00000115255		"Receptor accessory proteins"	30078	protein-coding gene	gene with protein product	"polyposis locus protein 1-like 1", "deleted in polyposis 1-like 1"	609346	"chromosome 19 open reading frame 32"	C19orf32		16271481, 15550249	Standard	NM_138393		Approved	DP1L1, FLJ25383	uc002ltc.3	Q96HR9	OTTHUMG00000180072		19.37:g.1490315G>A	Exception_encountered					PCSK4_ENST00000587784.1_Intron	p.R11C	NM_017573.3	NP_060043.2	Q6UW60	PCSK4_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)	1	92	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	11					B2RE01|D6W5Z0|Q96LM0	Missense_Mutation	SNP	ENST00000233596.3	37	c.31C>T	CCDS12070.1	.	.	.	.	.	.	.	.	.	.	G	4.944	0.175321	0.09391	.	.	ENSG00000115257	ENST00000300954	T	0.70045	-0.45	3.24	-2.0	0.07433	.	1.575150	0.04284	N	0.344455	T	0.49115	0.1538	L	0.53249	1.67	0.09310	N	1	P	0.49559	0.925	B	0.32211	0.142	T	0.49934	-0.8886	10	0.39692	T	0.17	.	0.945	0.01363	0.2332:0.1605:0.3988:0.2075	.	11	Q6UW60	PCSK4_HUMAN	C	11	ENSP00000300954:R11C	ENSP00000300954:R11C	R	-	1	0	PCSK4	1441315	0.017000	0.18338	0.027000	0.17364	0.062000	0.15995	-0.232000	0.09055	-0.173000	0.10761	0.313000	0.20887	CGC		0.751	REEP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449623.1	NM_138393		2	1	0	0	0	1	0	2	1					A	1490315	G	A	1490315	1	1	430	0	1	0	0	0	0	0	0	0	11602	1087	38	1		1	PCSK4	19	1490315	5'Flank	SNP	G	TCGA-FY-A3NP-01A-11D-A21A-08		1490315	57638668	12	8799											
ZNF878	729747	broad.mit.edu	37	chr19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacgaacagaactgggaaaActgaatgctttcccacactg	8	11	0	2			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr19:12155673A>C	ENST00000547628.1	-	4	680	c.543T>G	c.(541-543)agT>agG	p.S181R	ZNF878_ENST00000602107.1_Missense_Mutation_p.S228R|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAAACTGAATGCTT	0.403																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(682-684)agT>agG		zinc finger protein 878							189	199	196					19																	12155673		2112	4260	6372	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155673A>C		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"Zinc fingers, C2H2-type", "-"	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.543T>G	19.37:g.12155673A>C	ENSP00000447931:p.Ser181Arg					CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R	p.S228R			C9JN71	ZN878_HUMAN			5	683	-			181						Missense_Mutation	SNP	ENST00000547628.1	37	c.684T>G	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	a	0	-2.730166	0.00089	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.07216	3.21	1.24	-2.47	0.06442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03871	0.0109	N	0.12831	0.26	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.39231	-0.9624	9	0.21540	T	0.41	.	5.2308	0.15420	0.5561:0.2971:0.0:0.1468	.	181	C9JN71	ZN878_HUMAN	R	181;228	ENSP00000447931:S181R	ENSP00000447931:S181R	S	-	3	2	AC022415.4;ZNF878	12016673	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.404000	0.07205	-2.785000	0.00359	-2.885000	0.00097	AGT		0.403	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		4	97	0	0	0	1	0	4	97					C	12155673	A	C	12155673	3	2	430	1	0	0	0	0	1	0	0	0	18193	40	2	5	1056	5	ZNF878	19	12155673	Missense_Mutation	SNP	A	TCGA-FY-A3NP-01A-11D-A21A-08	10665358	12155673	46973310	13	8800											
LPHN1	22859	broad.mit.edu	37	chr19	14267930	14267930	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccaggaagaaatagtgcaGcaggccggcgaagatggggc	17	8	0	2			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr19:14267930G>A	ENST00000340736.6	-	16	3085	c.2788C>T	c.(2788-2790)Ctg>Ttg	p.L930L	CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Silent_p.L925L|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	930					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						AAATAGTGCAGCAGGCCGGCG	0.642																																						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.(2788-2790)Ctg>Ttg		latrophilin 1							48	49	48					19																	14267930		2203	4300	6503	SO:0001819	synonymous_variant	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14267930G>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.2788C>T	19.37:g.14267930G>A						CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Silent_p.L925L|CTB-55O6.12_ENST00000588387.1_RNA	p.L930L	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN			16	3085	-			930					Q96IE7|Q9BU07|Q9HAR3	Silent	SNP	ENST00000340736.6	37	c.2788C>T	CCDS32928.1																																																																																				0.642	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		3	30	0	0	0	1	0	3	30					A	14267930	G	A	14267930	2	1	430	1	0	0	0	0	0	0	0	1	8915	962	34	2		2	LPHN1	19	14267930	Silent	SNP	G	TCGA-FY-A3NP-01A-11D-A21A-08	2112257	14267930	44861053	14	8801											
ZNF225	7768	broad.mit.edu	37	chr19	44635831	44635831	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtggaaaacgcttcatttAtaggcaagatctttataagc	8	6	2	1			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr19:44635831A>G	ENST00000262894.6	+	5	1344	c.1064A>G	c.(1063-1065)tAt>tGt	p.Y355C	ZNF225_ENST00000590612.1_Missense_Mutation_p.Y355C|ZNF225_ENST00000592780.1_3'UTR	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	355					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)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				CGCTTCATTTATAGGCAAGAT	0.423																																						ENST00000262894.6																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16						c.(1063-1065)tAt>tGt		zinc finger protein 225							110	118	115					19																	44635831		2188	4290	6478	SO:0001583	missense	7768				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44635831A>G	AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"Zinc fingers, C2H2-type", "-"	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.1064A>G	19.37:g.44635831A>G	ENSP00000262894:p.Tyr355Cys					ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Missense_Mutation_p.Y355C	p.Y355C	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN			5	1344	+		Prostate(69;0.0352)|all_neural(266;0.202)	355					A8K8S2|Q53F12|Q9NS46|Q9UID8	Missense_Mutation	SNP	ENST00000262894.6	37	c.1064A>G	CCDS46100.1	.	.	.	.	.	.	.	.	.	.	A	7.319	0.616553	0.14129	.	.	ENSG00000256294	ENST00000262894;ENST00000544184	T	0.08546	3.08	2.63	-3.16	0.05217	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03263	0.0095	N	0.11313	0.125	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.41645	-0.9497	9	0.34782	T	0.22	.	0.7401	0.00972	0.3123:0.309:0.2158:0.1629	.	355	Q9UK10	ZN225_HUMAN	C	355;319	ENSP00000262894:Y355C	ENSP00000262894:Y355C	Y	+	2	0	ZNF225	49327671	0.000000	0.05858	0.000000	0.03702	0.520000	0.34377	-9.440000	0.00011	-1.128000	0.02922	-0.464000	0.05259	TAT		0.423	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1			17	29	0	0	0	1	0	17	29					G	44635831	A	G	44635831	3	3	430	1	0	0	0	0	1	0	0	0	17776	449	16	3	1078	3	ZNF225	19	44635831	Missense_Mutation	SNP	A	TCGA-FY-A3NP-01A-11D-A21A-08	30367901	44635831	14493152	15	8802											
CLTCL1	8218	broad.mit.edu	37	chr22	19183842	19183842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtggctcatcatggtgaGcacagcattgtcatactcct	12	10	3	1			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr22:19183842G>A	ENST00000263200.10	-	26	4198	c.4126C>T	c.(4126-4128)Ctc>Ttc	p.L1376F	CLTCL1_ENST00000353891.5_Missense_Mutation_p.L1376F|CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000427926.1_Missense_Mutation_p.L1376F	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1376	Heavy chain arm.|Involved in binding clathrin light chain. {ECO:0000250}.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ATCATGGTGAGCACAGCATTG	0.567			T	?	ALCL																																	ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"clathrin, heavy polypeptide-like 1"			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(4126-4128)Ctc>Ttc		clathrin, heavy chain-like 1							95	97	96					22																	19183842		2142	4251	6393	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19183842G>A		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.4126C>T	22.37:g.19183842G>A	ENSP00000445677:p.Leu1376Phe					CLTCL1_ENST00000427926.1_Missense_Mutation_p.L1376F|CLTCL1_ENST00000353891.5_Missense_Mutation_p.L1376F|CLTCL1_ENST00000442042.2_5'UTR	p.L1376F	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN			26	4198	-	Colorectal(54;0.0993)		1376			Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.4126C>T	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	G	9.763	1.170579	0.21621	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.20200	2.09;2.09;2.09	3.57	-3.55	0.04639	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.346876	0.25219	N	0.032256	T	0.32763	0.0840	M	0.89353	3.025	0.29067	N	0.883553	P;P;P;P	0.49447	0.682;0.915;0.924;0.728	P;P;P;P	0.55161	0.459;0.77;0.694;0.493	T	0.22695	-1.0209	10	0.62326	D	0.03	-6.0824	1.5211	0.02516	0.1931:0.1099:0.2085:0.4885	.	1376;199;199;1376	P53675-2;B7Z1Z7;B7Z2Y4;P53675	.;.;.;CLH2_HUMAN	F	1376	ENSP00000439662:L1376F;ENSP00000445677:L1376F;ENSP00000441158:L1376F	ENSP00000445677:L1376F	L	-	1	0	CLTCL1	17563842	1.000000	0.71417	0.024000	0.17045	0.036000	0.12997	1.458000	0.35223	-0.104000	0.12154	-0.332000	0.08345	CTC		0.567	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		3	46	0	0	0	1	0	3	46					A	19183842	G	A	19183842	3	1	430	1	0	0	0	0	1	0	0	0	3567	971	34	2	824	2	CLTCL1	22	19183842	Missense_Mutation	SNP	G	TCGA-FY-A3NP-01A-11D-A21A-08		19183842	32120724	16	8803											
LAMC1	3915	broad.mit.edu	37	chr1	183111704	183111704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggacctgaataagctaaacGagattgaaggcaccctaaac	9	9	0	3	rs79826197		TCGA-FY-A3ON-01A-11D-A21Z-08	TCGA-FY-A3ON-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b661b1c-472f-4911-83b6-ebf16248fe8f	f0119845-2a2b-4d0d-9f2e-24264ef9121c	g.chr1:183111704G>A	ENST00000258341.4	+	28	4866	c.4609G>A	c.(4609-4611)Gag>Aag	p.E1537K	RP11-181K3.4_ENST00000457852.3_RNA	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1537	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	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)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						TAAGCTAAACGAGATTGAAGG	0.448													G|||	1	0.000199681	0	0	5008	,	,		23235	0.001		0	False		,,,				2504	0					ENST00000258341.4																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(4609-4611)Gag>Aag		laminin, gamma 1 (formerly LAMB2)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						102	83	90					1																	183111704		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183111704G>A	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"Laminins"	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.4609G>A	1.37:g.183111704G>A	ENSP00000258341:p.Glu1537Lys						p.E1537K	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN			28	4866	+			1537			Domain II and I.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.4609G>A	CCDS1351.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	14.36	2.510832	0.44660	.	.	ENSG00000135862	ENST00000258341	T	0.31510	1.49	5.57	5.57	0.84162	.	0.151272	0.64402	D	0.000018	T	0.31482	0.0798	M	0.72118	2.19	0.58432	D	0.999991	P	0.41131	0.739	B	0.30943	0.122	T	0.21042	-1.0257	10	0.17832	T	0.49	.	19.5381	0.95262	0.0:0.0:1.0:0.0	.	1537	P11047	LAMC1_HUMAN	K	1537	ENSP00000258341:E1537K	ENSP00000258341:E1537K	E	+	1	0	LAMC1	181378327	1.000000	0.71417	0.906000	0.35671	0.628000	0.37860	5.596000	0.67570	2.611000	0.88343	0.655000	0.94253	GAG		0.448	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		3	66	0	0	0	1	0	3	66					A	183111704	G	A	183111704	3	1	431	1	0	0	0	0	1	0	0	0	8614	1059	37	1	4719	1	LAMC1	1	183111704	Missense_Mutation	SNP	G	TCGA-FY-A3ON-01A-11D-A21Z-08		183111704	66138917	1	8804											
DNMT3A	1788	broad.mit.edu	37	chr2	25463196	25463197	+	Frame_Shift_Del	DEL	TT	TT	-													gaaatcgcgagatgtccctcTtgtcactaacgcccatggcc							TCGA-FY-A3ON-01A-11D-A21Z-08	TCGA-FY-A3ON-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b661b1c-472f-4911-83b6-ebf16248fe8f	f0119845-2a2b-4d0d-9f2e-24264ef9121c	g.chr2:25463196_25463197delTT	ENST00000264709.3	-	19	2633_2634	c.2296_2297delAA	c.(2296-2298)aagfs	p.K766fs	DNMT3A_ENST00000402667.1_Frame_Shift_Del_p.K543fs|DNMT3A_ENST00000380746.4_Frame_Shift_Del_p.K577fs|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Frame_Shift_Del_p.K766fs	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	766	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATGTCCCTCTTGTCACTAACG	0.545			"Mis, F, N, S"		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"Mis, F, N, S"	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(2296-2298)gfs		DNA (cytosine-5-)-methyltransferase 3 alpha																																				SO:0001589	frameshift_variant	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25463196_25463197delTT		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2296_2297delAA	2.37:g.25463196_25463197delTT	ENSP00000264709:p.Lys766fs					DNMT3A_ENST00000321117.5_Frame_Shift_Del_p.K766fs|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000402667.1_Frame_Shift_Del_p.K543fs|DNMT3A_ENST00000380746.4_Frame_Shift_Del_p.K577fs	p.K766fs	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			19	2633_2634	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		766					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Frame_Shift_Del	DEL	ENST00000264709.3	37	c.2296_2297delAA	CCDS33157.1																																																																																				0.545	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		37	218						37	218	---	---	---	---	-	25463197	TT	-	25463196	7	5	431	1	0	1	0	1	0	0	0	0	4676	1609	56	0	461	0	DNMT3A	2	25463196	Frame_Shift_Del	DEL	TT	TCGA-FY-A3ON-01A-11D-A21Z-08		25463196	217736177	2	8805											
HCLS1	3059	broad.mit.edu	37	chr3	121351231	121351231	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggctcgagcacctcctcataGtccccctctggttcatcctc	7	18	3	0			TCGA-FY-A3ON-01A-11D-A21Z-08	TCGA-FY-A3ON-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b661b1c-472f-4911-83b6-ebf16248fe8f	f0119845-2a2b-4d0d-9f2e-24264ef9121c	g.chr3:121351231G>C	ENST00000314583.3	-	12	1279	c.1188C>G	c.(1186-1188)gaC>gaG	p.D396E	HCLS1_ENST00000428394.2_Missense_Mutation_p.D359E|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	396					actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CCTCCTCATAGTCCCCCTCTG	0.557																																						ENST00000314583.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1186-1188)gaC>gaG		hematopoietic cell-specific Lyn substrate 1							239	222	227					3																	121351231		2203	4300	6503	SO:0001583	missense	3059				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:121351231G>C		CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"cortactin-like"	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.1188C>G	3.37:g.121351231G>C	ENSP00000320176:p.Asp396Glu					HCLS1_ENST00000428394.2_Missense_Mutation_p.D359E|HCLS1_ENST00000473883.1_5'UTR	p.D396E	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN		GBM - Glioblastoma multiforme(114;0.0912)	12	1279	-			396					B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Missense_Mutation	SNP	ENST00000314583.3	37	c.1188C>G	CCDS3003.1	.	.	.	.	.	.	.	.	.	.	G	2.757	-0.258643	0.05791	.	.	ENSG00000180353	ENST00000314583;ENST00000428394	T;T	0.19938	2.12;2.11	5.21	3.39	0.38822	.	0.780599	0.12384	N	0.473618	T	0.15739	0.0379	L	0.40543	1.245	0.42050	D	0.99111	P;P	0.46656	0.882;0.882	B;B	0.43701	0.428;0.428	T	0.09443	-1.0674	10	0.02654	T	1	-25.6477	8.1107	0.30914	0.1865:0.0:0.8135:0.0	.	359;396	E7EVW7;P14317	.;HCLS1_HUMAN	E	396;359	ENSP00000320176:D396E;ENSP00000387645:D359E	ENSP00000320176:D396E	D	-	3	2	HCLS1	122833921	1.000000	0.71417	1.000000	0.80357	0.218000	0.24690	1.109000	0.31135	1.441000	0.47550	-0.140000	0.14226	GAC		0.557	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1	NM_005335		8	380	0	0	0	1	0	8	380					C	121351231	G	C	121351231	3	2	431	1	0	0	0	0	1	0	0	0	6995	1020	36	4	284	4	HCLS1	3	121351231	Missense_Mutation	SNP	G	TCGA-FY-A3ON-01A-11D-A21Z-08		121351231	76671199	3	8806											
PRDM9	56979	broad.mit.edu	37	chr5	23527606	23527606	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acacacacaggggagaagccCtatgtctgcagggagtgtgg	15	9	1	1			TCGA-FY-A3ON-01A-11D-A21Z-08	TCGA-FY-A3ON-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b661b1c-472f-4911-83b6-ebf16248fe8f	f0119845-2a2b-4d0d-9f2e-24264ef9121c	g.chr5:23527606C>A	ENST00000296682.3	+	11	2591	c.2409C>A	c.(2407-2409)ccC>ccA	p.P803P		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	803					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGAGAAGCCCTATGTCTGCA	0.567										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(2407-2409)ccC>ccA		PR domain containing 9							63	66	65					5																	23527606		2182	4294	6476	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527606C>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2409C>A	5.37:g.23527606C>A		HNSCC(3;0.000094)					p.P803P	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			11	2591	+			803					B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.2409C>A	CCDS43307.1																																																																																				0.567	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		6	209	1	0	8.12818e-05	1	8.12818e-05	6	209					A	23527606	C	A	23527606	2	1	431	1	0	0	0	0	0	0	0	1	12463	668	24	4		4	PRDM9	5	23527606	Silent	SNP	C	TCGA-FY-A3ON-01A-11D-A21Z-08		23527606	157387654	4	8807											
MAP1B	4131	broad.mit.edu	37	chr5	71490028	71490028	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcagtgaatggtttcaatatGctcatcaatggcggatcaga	11	7	4	2			TCGA-FY-A3ON-01A-11D-A21Z-08	TCGA-FY-A3ON-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b661b1c-472f-4911-83b6-ebf16248fe8f	f0119845-2a2b-4d0d-9f2e-24264ef9121c	g.chr5:71490028G>C	ENST00000296755.7	+	5	1144	c.846G>C	c.(844-846)atG>atC	p.M282I		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	282					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GTTTCAATATGCTCATCAATG	0.502																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(844-846)atG>atC		microtubule-associated protein 1B							83	87	86					5																	71490028		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71490028G>C	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.846G>C	5.37:g.71490028G>C	ENSP00000296755:p.Met282Ile						p.M282I	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	1144	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	282					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.846G>C	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.214244	0.39102	.	.	ENSG00000131711	ENST00000296755;ENST00000511641;ENST00000504492	T;T;T	0.12147	2.71;2.71;2.71	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.24044	0.0582	L	0.31207	0.915	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.70227	0.968;0.968	T	0.01024	-1.1477	10	0.02654	T	1	-22.0585	20.6525	0.99598	0.0:0.0:1.0:0.0	.	156;282	A2BDK6;P46821	.;MAP1B_HUMAN	I	282;299;156	ENSP00000296755:M282I;ENSP00000423444:M299I;ENSP00000423416:M156I	ENSP00000296755:M282I	M	+	3	0	MAP1B	71525784	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.765000	0.74965	2.890000	0.99128	0.585000	0.79938	ATG		0.502	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		12	121	0	0	0	1	0	12	121					C	71490028	G	C	71490028	3	2	431	1	0	0	0	0	1	0	0	0	9228	1319	46	4	864	4	MAP1B	5	71490028	Missense_Mutation	SNP	G	TCGA-FY-A3ON-01A-11D-A21Z-08	47962422	71490028	109425232	5	8808											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FY-A3ON-01A-11D-A21Z-08	TCGA-FY-A3ON-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b661b1c-472f-4911-83b6-ebf16248fe8f	f0119845-2a2b-4d0d-9f2e-24264ef9121c	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		49	84	0	0	0	1	0	49	84					T	140453136	A	T	140453136	3	4	431	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FY-A3ON-01A-11D-A21Z-08		140453136	18685527	6	8809											
SUFU	51684	broad.mit.edu	37	chr10	104353429	104353429	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagagctacactcagccCagcagtggaacgggcagggc	14	12	1	2			TCGA-FY-A3ON-01A-11D-A21Z-08	TCGA-FY-A3ON-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b661b1c-472f-4911-83b6-ebf16248fe8f	f0119845-2a2b-4d0d-9f2e-24264ef9121c	g.chr10:104353429C>T	ENST00000369902.3	+	5	800	c.634C>T	c.(634-636)Cag>Tag	p.Q212*	SUFU_ENST00000369899.2_Nonsense_Mutation_p.Q212*|RNU6-43P_ENST00000384302.1_RNA|SUFU_ENST00000423559.2_Nonsense_Mutation_p.Q212*|SUFU_ENST00000471000.1_3'UTR	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	212					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.Q212K(1)		breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		ACACTCAGCCCAGCAGTGGAA	0.617			"D, F, S"		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation																													ENST00000369902.3			yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	"D, F, S"	suppressor of fused homolog (Drosophila)			O		medulloblastoma	medulloblastoma		1	Substitution - Missense(1)	p.Q212K(1)	lung(1)	breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24						c.(634-636)Cag>Tag		suppressor of fused homolog (Drosophila)							95	81	85					10																	104353429		2203	4300	6503	SO:0001587	stop_gained	51684	Medulloblastoma, associated with Germline SUFU Mutation	Familial Cancer Database		negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding	g.chr10:104353429C>T	AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.634C>T	10.37:g.104353429C>T	ENSP00000358918:p.Gln212*					SUFU_ENST00000423559.2_Nonsense_Mutation_p.Q212*|SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000369899.2_Nonsense_Mutation_p.Q212*	p.Q212*	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)	5	800	+		Colorectal(252;0.207)	212					Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Nonsense_Mutation	SNP	ENST00000369902.3	37	c.634C>T	CCDS7537.1	.	.	.	.	.	.	.	.	.	.	C	38	6.817597	0.97861	.	.	ENSG00000107882	ENST00000369902;ENST00000369899;ENST00000423559	.	.	.	6.08	6.08	0.98989	.	0.048329	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-20.855	20.2738	0.98482	0.0:1.0:0.0:0.0	.	.	.	.	X	212	.	ENSP00000358915:Q212X	Q	+	1	0	SUFU	104343419	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.894000	0.99253	0.655000	0.94253	CAG		0.617	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050089.1	NM_016169		18	80	0	0	0	1	0	18	80					T	104353429	C	T	104353429	4	4	431	1	0	0	0	0	0	1	0	0	15367	595	21	2	652	2	SUFU	10	104353429	Nonsense_Mutation	SNP	C	TCGA-FY-A3ON-01A-11D-A21Z-08		104353429	31181318	7	8810											
RETN	56729	broad.mit.edu	37	chr19	7734285	7734285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaagaccctgtgctccatgGaagaagccatcaatgagagg	12	10	1	3			TCGA-FY-A3ON-01A-11D-A21Z-08	TCGA-FY-A3ON-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b661b1c-472f-4911-83b6-ebf16248fe8f	f0119845-2a2b-4d0d-9f2e-24264ef9121c	g.chr19:7734285G>A	ENST00000221515.2	+	2	161	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	RETN_ENST00000381324.2_Missense_Mutation_p.E25K	NM_001193374.1|NM_020415.3	NP_001180303.1|NP_065148.1	Q9HD89	RETN_HUMAN	resistin	25					aging (GO:0007568)|fat cell differentiation (GO:0045444)|negative regulation of feeding behavior (GO:2000252)|positive regulation of collagen metabolic process (GO:0010714)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of synaptic transmission (GO:0050806)|response to insulin (GO:0032868)|response to mechanical stimulus (GO:0009612)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				ovary(1)	1						GTGCTCCATGGAAGAAGCCAT	0.587																																						ENST00000221515.2																			0				ovary(1)	1						c.(73-75)Gaa>Aaa		resistin							161	144	150					19																	7734285		2203	4300	6503	SO:0001583	missense	56729						hormone activity	g.chr19:7734285G>A	AF205952	CCDS12182.1	19p13.2	2008-02-05				ENSG00000104918			20389	protein-coding gene	gene with protein product		605565				12050208	Standard	NM_020415		Approved	FIZZ3, ADSF, RETN1	uc002mhf.1	Q9HD89		ENST00000221515.2:c.73G>A	19.37:g.7734285G>A	ENSP00000221515:p.Glu25Lys					RETN_ENST00000381324.2_Missense_Mutation_p.E25K	p.E25K	NM_001193374.1|NM_020415.3	NP_001180303.1|NP_065148.1	Q9HD89	RETN_HUMAN			2	161	+			25					D6W649|Q540D9|Q76B53	Missense_Mutation	SNP	ENST00000221515.2	37	c.73G>A	CCDS12182.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763448	0.49574	.	.	ENSG00000104918	ENST00000221515;ENST00000381324	T;T	0.48201	0.86;0.82	4.71	3.65	0.41850	.	0.549658	0.16095	N	0.229871	T	0.38026	0.1025	L	0.42245	1.32	0.09310	N	0.999993	P	0.36354	0.549	B	0.31946	0.138	T	0.28073	-1.0055	10	0.72032	D	0.01	-0.7237	10.7575	0.46245	0.0:0.1932:0.8068:0.0	.	25	Q9HD89	RETN_HUMAN	K	25	ENSP00000221515:E25K;ENSP00000370725:E25K	ENSP00000221515:E25K	E	+	1	0	RETN	7640285	0.956000	0.32656	0.011000	0.14972	0.013000	0.08279	2.702000	0.47102	0.959000	0.37980	0.462000	0.41574	GAA		0.587	RETN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461731.1	NM_020415		11	175	0	0	0	1	0	11	175					A	7734285	G	A	7734285	3	1	431	1	0	0	0	0	1	0	0	0	13236	1175	41	2	75	2	RETN	19	7734285	Missense_Mutation	SNP	G	TCGA-FY-A3ON-01A-11D-A21Z-08		7734285	51394698	8	8811											
RNF186	54546	broad.mit.edu	37	chr1	20141106	20141106	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgatgaggataatgagcaaGgccagcaggagtaggtgcgc	16	8	0	2			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr1:20141106G>A	ENST00000375121.2	-	1	665	c.489C>T	c.(487-489)gcC>gcT	p.A163A	RP11-91K11.2_ENST00000454736.1_RNA	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN	ring finger protein 186	163						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TAATGAGCAAGGCCAGCAGGA	0.607																																						ENST00000375121.2																			0				kidney(1)|lung(3)|urinary_tract(1)	5						c.(487-489)gcC>gcT		ring finger protein 186							95	108	104					1																	20141106		2203	4300	6503	SO:0001819	synonymous_variant	54546					integral to membrane	zinc ion binding	g.chr1:20141106G>A		CCDS199.1	1p36.13	2008-02-05			ENSG00000178828	ENSG00000178828		"RING-type (C3HC4) zinc fingers"	25978	protein-coding gene	gene with protein product	"hypothetical protein FLJ20225"					12477932	Standard	NM_019062		Approved	FLJ20225	uc001bcr.3	Q9NXI6	OTTHUMG00000002709	ENST00000375121.2:c.489C>T	1.37:g.20141106G>A						RP11-91K11.2_ENST00000454736.1_RNA	p.A163A	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	665	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	163					Q53GE0	Silent	SNP	ENST00000375121.2	37	c.489C>T	CCDS199.1																																																																																				0.607	RNF186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007694.1	NM_019062		6	161	0	0	0	1	0	6	161					A	20141106	G	A	20141106	2	1	432	1	0	0	0	0	0	0	0	1	13469	987	35	2		2	RNF186	1	20141106	Silent	SNP	G	TCGA-FY-A3R6-01A-11D-A21Z-08		20141106	229109515	1	8812											
ZBTB47	92999	broad.mit.edu	37	chr3	42700747	42700749	+	In_Frame_Del	DEL	GGA	GGA	-													gaaggtggtggcagtggacgGgaggaggaggaggaggaaga					rs558162168		TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr3:42700747_42700749delGGA	ENST00000232974.6	+	2	1181_1183	c.900_902delGGA	c.(898-903)cgggag>cgg	p.E307del	ZBTB47_ENST00000457842.3_5'UTR|ZBTB47_ENST00000505904.1_Intron			Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	307	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		gcagtggacgggaggaggaggag	0.626																																						ENST00000232974.6																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13						c.(898-903)cgg>cg		zinc finger and BTB domain containing 47				143,3833		3,137,1848						1.8	1.0			11	293,7279		9,275,3502	no	coding	ZBTB47	NM_145166.3		12,412,5350	A1A1,A1R,RR		3.8695,3.5966,3.7755				436,11112				SO:0001651	inframe_deletion	92999				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:42700747_42700749delGGA	AB033016	CCDS46805.1, CCDS46805.2	3p22.1	2013-01-08	2006-09-19	2006-09-19	ENSG00000114853	ENSG00000114853		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26955	protein-coding gene	gene with protein product			"zinc finger protein 651"	ZNF651		10574461	Standard	NM_145166		Approved	KIAA1190, DKFZp434N0615	uc003clu.2	Q9UFB7	OTTHUMG00000156207	ENST00000232974.6:c.900_902delGGA	3.37:g.42700756_42700758delGGA	ENSP00000232974:p.Glu307del					ZBTB47_ENST00000505904.1_Intron|ZBTB47_ENST00000457842.3_5'UTR	p.RE300del			Q9UFB7	ZBT47_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.216)	2	1181_1183	+			26					H7BXD3|Q6ZSY6|Q8WTY8|Q9ULN0	In_Frame_Del	DEL	ENST00000232974.6	37	c.900_902delGGA	CCDS46805.2																																																																																				0.626	ZBTB47-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343485.3	NM_145166		3	5						3	5	---	---	---	---	-	42700749	GGA	-	42700747	7	5	432	1	0	1	0	1	0	0	0	0	17545	1219	43	0	902	0	ZBTB47	3	42700747	In_Frame_Del	DEL	GGA	TCGA-FY-A3R6-01A-11D-A21Z-08		42700747	155321683	2	8813											
GLYCTK	132158	broad.mit.edu	37	chr3	52326848	52326848	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggtggccggaaccaggaactGgccctgcgtgttggagcaga	17	10	0	1			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr3:52326848G>C	ENST00000436784.2	+	5	1338	c.1278G>C	c.(1276-1278)ctG>ctC	p.L426L	GLYCTK_ENST00000354773.4_3'UTR|GLYCTK_ENST00000305690.8_Intron|GLYCTK_ENST00000461183.1_Intron|GLYCTK_ENST00000473032.1_Intron|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000471180.1_Intron|GLYCTK_ENST00000477382.1_3'UTR|MIR135A1_ENST00000385191.1_RNA			Q8IVS8	GLCTK_HUMAN	glycerate kinase	426					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glycerate kinase activity (GO:0008887)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		ACCAGGAACTGGCCCTGCGTG	0.657																																						ENST00000436784.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9						c.(1276-1278)ctG>ctC		glycerate kinase							75	72	73					3																	52326848		2203	4300	6503	SO:0001819	synonymous_variant	132158				protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding	g.chr3:52326848G>C		CCDS2852.1, CCDS46841.1	3p21.1	2008-01-22			ENSG00000168237	ENSG00000168237	2.7.1.31		24247	protein-coding gene	gene with protein product		610516				16753811	Standard	NM_145262		Approved	HBEBP4, HBEBP2	uc003ddo.3	Q8IVS8	OTTHUMG00000158380	ENST00000436784.2:c.1278G>C	3.37:g.52326848G>C						GLYCTK_ENST00000473032.1_Intron|GLYCTK_ENST00000471180.1_Intron|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000354773.4_3'UTR|GLYCTK_ENST00000305690.8_Intron|GLYCTK_ENST00000477382.1_3'UTR|GLYCTK_ENST00000461183.1_Intron	p.L426L			Q8IVS8	GLCTK_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)	5	1338	+			426					Q0P630|Q2EZ43|Q6Y2K6|Q7Z6G5|Q86YR8|Q8TED2|Q8WTY2	Silent	SNP	ENST00000436784.2	37	c.1278G>C	CCDS2852.1																																																																																				0.657	GLYCTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350835.1	NM_145262		30	87	0	0	0	1	0	30	87					C	52326848	G	C	52326848	2	2	432	1	0	0	0	0	0	0	0	1	6482	1335	47	4		4	GLYCTK	3	52326848	Silent	SNP	G	TCGA-FY-A3R6-01A-11D-A21Z-08	9626101	52326848	145695582	3	8814											
TNK2	10188	broad.mit.edu	37	chr3	195597006	195597006	+	Frame_Shift_Del	DEL	G	G	-													tttcacccctcctagatgctGggggggccgggaggtgctca							TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr3:195597006delG	ENST00000333602.6	-	11	2139	c.1522delC	c.(1522-1524)cagfs	p.Q508fs	TNK2_ENST00000392400.1_Frame_Shift_Del_p.Q508fs|TNK2_ENST00000381916.2_Frame_Shift_Del_p.Q571fs|TNK2_ENST00000428187.1_Frame_Shift_Del_p.Q540fs	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	508				Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CCTAGATGCTGGGGGGGCCGG	0.612																																						ENST00000333602.6																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(1522-1524)agfs		tyrosine kinase, non-receptor, 2	Adenosine triphosphate(DB00171)		,	38,4126		6,26,2050	15	17	16		,	4.2	1.0	3		17	50,8054		8,34,4010	no	frameshift,frameshift	TNK2	NM_005781.4,NM_001010938.1	,	14,60,6060	A1A1,A1R,RR		0.617,0.9126,0.7173	,	,	195597006	88,12180	2169	4245	6414	SO:0001589	frameshift_variant	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195597006delG	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"activated Cdc42-associated kinase 1"	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.1522delC	3.37:g.195597006delG	ENSP00000329425:p.Gln508fs					TNK2_ENST00000428187.1_Frame_Shift_Del_p.Q540fs|TNK2_ENST00000381916.2_Frame_Shift_Del_p.Q571fs|TNK2_ENST00000392400.1_Frame_Shift_Del_p.Q508fs	p.Q508fs	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	11	2139	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	508	Missing (in Ref. 4; AAH08884).				Q6ZMQ0|Q8N6U7|Q96H59	Frame_Shift_Del	DEL	ENST00000333602.6	37	c.1522delC	CCDS33928.1																																																																																				0.612	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		3	6						3	6	---	---	---	---	-	195597006	G	-	195597006	7	5	432	1	0	1	0	1	0	0	0	0	16315	1357	47	0	1663	0	TNK2	3	195597006	Frame_Shift_Del	DEL	G	TCGA-FY-A3R6-01A-11D-A21Z-08	143270158	195597006	2425424	4	8815											
LETM1	3954	broad.mit.edu	37	chr4	1838262	1838262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccacgaacacaaggaacGgcaccaggcggaagaggtca	12	13	1	1			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr4:1838262G>A	ENST00000302787.2	-	4	928	c.632C>T	c.(631-633)cCg>cTg	p.P211L		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	211	LETM1.				cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			CACAAGGAACGGCACCAGGCG	0.562																																						ENST00000302787.2																			0				breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(631-633)cCg>cTg		leucine zipper-EF-hand containing transmembrane protein 1							147	121	130					4																	1838262		2203	4300	6503	SO:0001583	missense	3954				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr4:1838262G>A	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"EF-hand domain containing"	6556	protein-coding gene	gene with protein product	"Mdm38 homolog (yeast)"	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.632C>T	4.37:g.1838262G>A	ENSP00000305653:p.Pro211Leu						p.P211L	NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		4	928	-			211			LETM1.		B4DED2|Q9UF65	Missense_Mutation	SNP	ENST00000302787.2	37	c.632C>T	CCDS3355.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660898	0.88154	.	.	ENSG00000168924	ENST00000302787;ENST00000417150	T	0.57273	0.41	4.01	4.01	0.46588	LETM1-like (1);	0.000000	0.85682	D	0.000000	T	0.76608	0.4011	M	0.88512	2.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.83082	-0.0137	10	0.87932	D	0	-30.3223	16.3116	0.82873	0.0:0.0:1.0:0.0	.	211;211	O95202-3;O95202	.;LETM1_HUMAN	L	211;171	ENSP00000305653:P211L	ENSP00000305653:P211L	P	-	2	0	LETM1	1808060	1.000000	0.71417	0.723000	0.30687	0.801000	0.45260	9.506000	0.97992	2.077000	0.62373	0.563000	0.77884	CCG		0.562	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			31	125	0	0	0	1	0	31	125					A	1838262	G	A	1838262	3	1	432	1	0	0	0	0	1	0	0	0	8734	1116	39	1	1631	1	LETM1	4	1838262	Missense_Mutation	SNP	G	TCGA-FY-A3R6-01A-11D-A21Z-08		1838262	189316014	5	8816											
ADAMTS6	11174	broad.mit.edu	37	chr5	64629869	64629869	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaaccaaaaaaaacttacCcagtgttccacagggcttat	5	10	0	0			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr5:64629869C>T	ENST00000536360.1	-	8	1930	c.1117G>A	c.(1117-1119)Ggc>Agc	p.G373S				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	373	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		aaaaaCTTACCCAGTGTTCCA	0.259																																						ENST00000536360.1																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18						c.e8+1		ADAM metallopeptidase with thrombospondin type 1 motif, 6							38	42	41					5																	64629869		2196	4295	6491	SO:0001630	splice_region_variant	11174				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:64629869C>T	AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"ADAM metallopeptidases with thrombospondin type 1 motif"	222	protein-coding gene	gene with protein product	"a disintegrin and metalloproteinase with thrombospondin motifs 6"	605008	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000536360.1:c.1117+1G>A	5.37:g.64629869C>T							p.G373_splice			Q9UKP5	ATS6_HUMAN		Lung(70;0.00942)	8	1930	-		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)	373			Peptidase M12B.		Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Splice_Site	SNP	ENST00000536360.1	37	c.1117_splice		.	.	.	.	.	.	.	.	.	.	C	27.6	4.850515	0.91277	.	.	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680;ENST00000536360	D;D;D	0.95272	-3.66;-3.66;-3.66	5.16	5.16	0.70880	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.97955	0.9327	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98962	1.0798	9	.	.	.	.	18.2467	0.89988	0.0:1.0:0.0:0.0	.	373	Q9UKP5	ATS6_HUMAN	S	373	ENSP00000370443:G373S;ENSP00000423551:G373S;ENSP00000440995:G373S	.	G	-	1	0	ADAMTS6	64665625	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.224000	0.78042	2.408000	0.81797	0.561000	0.74099	GGC		0.259	ADAMTS6-201	KNOWN	basic	protein_coding	protein_coding		NM_197941	Missense_Mutation	17	47	0	0	0	1	0	17	47					T	64629869	C	T	64629869	5	4	432	1	0	0	0	0	0	0	1	0	270	637	22	2	2308	2	ADAMTS6	5	64629869	Splice_Site	SNP	C	TCGA-FY-A3R6-01A-11D-A21Z-08		64629869	116285391	6	8817											
FAT2	2196	broad.mit.edu	37	chr5	150925516	150925516	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggattttcagctggtaagaCgagattttctcatggtccaa	10	8	2	2			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr5:150925516C>T	ENST00000261800.5	-	9	5184	c.5172G>A	c.(5170-5172)tcG>tcA	p.S1724S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1724	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTGGTAAGACGAGATTTTCT	0.413																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(5170-5172)tcG>tcA		FAT atypical cadherin 2							120	122	121					5																	150925516		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150925516C>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.5172G>A	5.37:g.150925516C>T							p.S1724S	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	5184	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1724			Cadherin 15.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.5172G>A	CCDS4317.1																																																																																				0.413	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		28	148	0	0	0	1	0	28	148					T	150925516	C	T	150925516	2	4	432	1	0	0	0	0	0	0	0	1	5690	523	19	1		1	FAT2	5	150925516	Silent	SNP	C	TCGA-FY-A3R6-01A-11D-A21Z-08	86295647	150925516	29989744	7	8818											
PWWP2A	114825	broad.mit.edu	37	chr5	159520656	159520656	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactaccttttctaatttccTttttttcagcaacaacactg	2	11	2	0			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr5:159520656T>C	ENST00000307063.7	-	2	1035	c.1001A>G	c.(1000-1002)aAg>aGg	p.K334R	PWWP2A_ENST00000456329.3_Missense_Mutation_p.K334R|PWWP2A_ENST00000523662.1_Missense_Mutation_p.K334R	NM_001130864.1	NP_001124336.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	334										kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	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)			TCTAATTTCCTTTTTTTCAGC	0.333																																						ENST00000456329.3																			0				kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(1000-1002)aAg>aGg		PWWP domain containing 2A							122	103	109					5																	159520656		1822	4092	5914	SO:0001583	missense	114825							g.chr5:159520656T>C		CCDS47331.1, CCDS47332.1, CCDS58990.1	5q33.3	2011-03-23			ENSG00000170234	ENSG00000170234			29406	protein-coding gene	gene with protein product							Standard	NM_052927		Approved	KIAA1935	uc011ded.2	Q96N64	OTTHUMG00000163546	ENST00000307063.7:c.1001A>G	5.37:g.159520656T>C	ENSP00000305151:p.Lys334Arg					PWWP2A_ENST00000523662.1_Missense_Mutation_p.K334R|PWWP2A_ENST00000307063.7_Missense_Mutation_p.K334R	p.K334R	NM_052927.2	NP_443159.1	Q96N64	PWP2A_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	1035	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	334					G5EA07|Q2HJJ2|Q8IYR3|Q96PV3	Missense_Mutation	SNP	ENST00000307063.7	37	c.1001A>G	CCDS47332.1	.	.	.	.	.	.	.	.	.	.	T	8.748	0.920598	0.17982	.	.	ENSG00000170234	ENST00000456329;ENST00000523662;ENST00000307063	T;T;T	0.24723	1.84;1.84;1.84	5.57	4.39	0.52855	.	0.048097	0.85682	D	0.000000	T	0.17408	0.0418	N	0.19112	0.55	0.34025	D	0.653078	P;P;P	0.51933	0.704;0.949;0.949	B;B;B	0.43301	0.236;0.415;0.415	T	0.18808	-1.0325	10	0.33940	T	0.23	-14.8326	11.4822	0.50333	0.0:0.0727:0.0:0.9273	.	334;334;334	Q96N64;G5EA07;Q96N64-2	PWP2A_HUMAN;.;.	R	334	ENSP00000390462:K334R;ENSP00000428143:K334R;ENSP00000305151:K334R	ENSP00000305151:K334R	K	-	2	0	PWWP2A	159453234	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.823000	0.55715	2.123000	0.65237	0.460000	0.39030	AAG		0.333	PWWP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374092.1			3	63	0	0	0	1	0	3	63					C	159520656	T	C	159520656	3	2	432	1	0	0	0	0	1	0	0	0	12845	1609	56	3	1412	3	PWWP2A	5	159520656	Missense_Mutation	SNP	T	TCGA-FY-A3R6-01A-11D-A21Z-08	8595140	159520656	21394604	8	8819											
TNRC18	84629	broad.mit.edu	37	chr7	5352528	5352530	+	In_Frame_Del	DEL	GAG	GAG	-													tggaggaagaagaggaggaaGaggaggaggaggaggaggat					rs376153797		TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr7:5352528_5352530delGAG	ENST00000430969.1	-	27	8340_8342	c.7992_7994delCTC	c.(7990-7995)tcctct>tct	p.2664_2665SS>S	TNRC18_ENST00000399537.4_In_Frame_Del_p.2664_2665SS>S	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2664	Ser-rich.						chromatin binding (GO:0003682)	p.S2671delS(2)|p.P1177delP(1)		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)		agaggaggaagaggaggaggagg	0.64																																						ENST00000399537.4																			3	Deletion - In frame(3)	p.S2671delS(2)|p.P1177delP(1)	prostate(3)	central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(7990-7995)tct>tc		trinucleotide repeat containing 18				64,3888		3,58,1915						-4.8	0.9			7	110,7474		3,104,3685	no	coding	TNRC18	NM_001080495.2		6,162,5600	A1A1,A1R,RR		1.4504,1.6194,1.5083				174,11362				SO:0001651	inframe_deletion	84629						DNA binding	g.chr7:5352528_5352530delGAG	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.7992_7994delCTC	7.37:g.5352537_5352539delGAG	ENSP00000395538:p.Ser2671del					TNRC18_ENST00000430969.1_In_Frame_Del_p.SS2670del	p.SS2670del			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	27	8340_8342	-		Ovarian(82;0.142)	2670			Ser-rich.		A8MX41|Q96JH1|Q96K91	In_Frame_Del	DEL	ENST00000430969.1	37	c.7992_7994delCTC	CCDS47534.1																																																																																				0.64	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				2	4						2	4	---	---	---	---	-	5352530	GAG	-	5352528	7	5	432	1	0	1	0	1	0	0	0	0	16336	942	33	0	928	0	TNRC18	7	5352528	In_Frame_Del	DEL	GAG	TCGA-FY-A3R6-01A-11D-A21Z-08		5352528	153786135	9	8820											
EIF4H	7458	broad.mit.edu	37	chr7	73609165	73609165	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccgcttcagagatggcccTcccctccgtggatccaacat	9	16	1	1			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr7:73609165T>C	ENST00000265753.8	+	6	703	c.564T>C	c.(562-564)ccT>ccC	p.P188P	EIF4H_ENST00000353999.6_Silent_p.P168P	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	188					cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|sexual reproduction (GO:0019953)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|lung(2)|prostate(1)	4						GAGATGGCCCTCCCCTCCGTG	0.617																																						ENST00000265753.8																			0				endometrium(1)|lung(2)|prostate(1)	4						c.(562-564)ccT>ccC		eukaryotic translation initiation factor 4H							42	47	46					7																	73609165		2203	4300	6503	SO:0001819	synonymous_variant	7458				interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity	g.chr7:73609165T>C		CCDS5564.1, CCDS5565.1	7q11.23	2013-02-12	2006-11-27	2006-11-27	ENSG00000106682	ENSG00000106682		"RNA binding motif (RRM) containing"	12741	protein-coding gene	gene with protein product		603431	"Williams-Beuren syndrome chromosome region 1"	WBSCR1		9516461, 15078951	Standard	NM_022170		Approved	WSCR1, KIAA0038	uc003uad.1	Q15056	OTTHUMG00000023025	ENST00000265753.8:c.564T>C	7.37:g.73609165T>C						EIF4H_ENST00000353999.6_Silent_p.P168P	p.P188P	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN			6	703	+			188					A8K3R1|D3DXF6|D3DXF8	Silent	SNP	ENST00000265753.8	37	c.564T>C	CCDS5564.1																																																																																				0.617	EIF4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252375.2	NM_022170		3	76	0	0	0	1	0	3	76					C	73609165	T	C	73609165	2	2	432	1	0	0	0	0	0	0	0	1	5039	1538	54	3		3	EIF4H	7	73609165	Silent	SNP	T	TCGA-FY-A3R6-01A-11D-A21Z-08	68256637	73609165	85529498	10	8821											
USP20	10868	broad.mit.edu	37	chr9	132631703	132631703	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtgtctcacctgtgaccGggtgggtgccccagggatgg	17	11	1	1			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr9:132631703G>A	ENST00000315480.4	+	13	1549	c.1391G>A	c.(1390-1392)cGg>cAg	p.R464Q	USP20_ENST00000372429.3_Splice_Site_p.R464Q|USP20_ENST00000358355.1_Splice_Site_p.R464Q			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	464	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)				ACCTGTGACCGGGTGGGTGCC	0.667																																						ENST00000315480.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11						c.e13+1		ubiquitin specific peptidase 20							46	52	50					9																	132631703		2057	4202	6259	SO:0001630	splice_region_variant	0				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.chr9:132631703G>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.1392+1G>A	9.37:g.132631703G>A						USP20_ENST00000358355.1_Splice_Site_p.R464_splice|USP20_ENST00000372429.3_Splice_Site_p.R464_splice	p.R464_splice			Q9Y2K6	UBP20_HUMAN			13	1549	+		Ovarian(14;0.00556)	464					Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Splice_Site	SNP	ENST00000315480.4	37	c.1392_splice	CCDS43892.1	.	.	.	.	.	.	.	.	.	.	G	36	5.637014	0.96693	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.30714	1.52;1.52;1.52	5.34	5.34	0.76211	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.213702	0.46442	D	0.000296	T	0.49253	0.1546	L	0.46670	1.46	0.80722	D	1	D	0.76494	0.999	D	0.65573	0.936	T	0.48387	-0.9040	10	0.72032	D	0.01	.	18.0352	0.89298	0.0:0.0:1.0:0.0	.	464	Q9Y2K6	UBP20_HUMAN	Q	464	ENSP00000361506:R464Q;ENSP00000313811:R464Q;ENSP00000351122:R464Q	ENSP00000313811:R464Q	R	+	2	0	USP20	131671524	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.405000	0.97313	2.497000	0.84241	0.655000	0.94253	CGG		0.667	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2		Missense_Mutation	3	94	0	0	0	1	0	3	94					A	132631703	G	A	132631703	5	1	432	1	0	0	0	0	0	0	1	0	17049	1130	39	1	1433	1	USP20	9	132631703	Splice_Site	SNP	G	TCGA-FY-A3R6-01A-11D-A21Z-08		132631703	8581728	11	8822											
DGKZ	8525	broad.mit.edu	37	chr11	46397012	46397012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgggcggacacggcgagCggctgacgcagtgtcgcgag	20	10	0	1			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr11:46397012C>T	ENST00000454345.1	+	21	2430	c.2305C>T	c.(2305-2307)Cgg>Tgg	p.R769W	DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000343674.6_Missense_Mutation_p.R597W|DGKZ_ENST00000456247.2_Missense_Mutation_p.R580W|DGKZ_ENST00000527911.1_Missense_Mutation_p.R581W|MIR4688_ENST00000577966.1_RNA|DGKZ_ENST00000532868.2_Missense_Mutation_p.R585W|DGKZ_ENST00000421244.2_Missense_Mutation_p.R581W|DGKZ_ENST00000395574.3_Missense_Mutation_p.R547W|DGKZ_ENST00000528615.1_Missense_Mutation_p.R359W|DGKZ_ENST00000318201.8_Missense_Mutation_p.R558W	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	769					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		ACACGGCGAGCGGCTGACGCA	0.682																																						ENST00000454345.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25						c.(2305-2307)Cgg>Tgg		diacylglycerol kinase, zeta																																				SO:0001583	missense	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46397012C>T	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"diacylglycerol kinase, zeta 104kDa"			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.2305C>T	11.37:g.46397012C>T	ENSP00000412178:p.Arg769Trp					DGKZ_ENST00000532868.2_Missense_Mutation_p.R585W|DGKZ_ENST00000318201.8_Missense_Mutation_p.R558W|DGKZ_ENST00000528615.1_Missense_Mutation_p.R359W|DGKZ_ENST00000527911.1_Missense_Mutation_p.R581W|DGKZ_ENST00000343674.6_Missense_Mutation_p.R597W|DGKZ_ENST00000456247.2_Missense_Mutation_p.R580W|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000421244.2_Missense_Mutation_p.R581W|DGKZ_ENST00000395574.3_Missense_Mutation_p.R547W	p.R769W	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	21	2430	+			769					B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	c.2305C>T	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390795	0.62066	.	.	ENSG00000149091	ENST00000343674;ENST00000528615;ENST00000395574;ENST00000532868;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345	T;T;T;T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09	4.34	3.41	0.39046	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	T	0.71230	0.3315	M	0.94101	3.495	0.80722	D	1	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	D;D;D;D;D;D;D;D;D	0.97110	0.999;0.999;1.0;1.0;0.999;0.998;1.0;1.0;0.999	T	0.79181	-0.1909	10	0.66056	D	0.02	.	13.147	0.59467	0.2888:0.7112:0.0:0.0	.	558;546;524;581;769;580;581;547;597	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZVG7	.;.;.;.;DGKZ_HUMAN;.;.;.;.	W	597;359;547;546;581;580;581;558;769	ENSP00000343065:R597W;ENSP00000434719:R359W;ENSP00000378941:R547W;ENSP00000436273:R546W;ENSP00000436291:R581W;ENSP00000395684:R580W;ENSP00000391021:R581W;ENSP00000320340:R558W;ENSP00000412178:R769W	ENSP00000320340:R558W	R	+	1	2	DGKZ	46353588	1.000000	0.71417	1.000000	0.80357	0.502000	0.33828	1.317000	0.33631	1.170000	0.42753	0.462000	0.41574	CGG		0.682	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		3	2	0	0	0	1	0	3	2					T	46397012	C	T	46397012	3	4	432	1	0	0	0	0	1	0	0	0	4474	759	27	1	2830	1	DGKZ	11	46397012	Missense_Mutation	SNP	C	TCGA-FY-A3R6-01A-11D-A21Z-08		46397012	88609504	12	8823											
C11orf87	399947	broad.mit.edu	37	chr11	109294541	109294541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccagtccttctcctccaCgctggtgctgattgtcctgg	9	15	1	1	rs187108020	byFrequency	TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr11:109294541C>T	ENST00000327419.6	+	2	585	c.182C>T	c.(181-183)aCg>aTg	p.T61M	RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	61						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						TTCTCCTCCACGCTGGTGCTG	0.612													C|||	2	0.000399361	0	0	5008	,	,		19410	0.001		0.001	False		,,,				2504	0					ENST00000327419.6																			0				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(181-183)aCg>aTg		chromosome 11 open reading frame 87							165	134	145					11																	109294541		2201	4298	6499	SO:0001583	missense	399947					integral to membrane		g.chr11:109294541C>T	AB096240, BC035798	CCDS31672.1	11q22.3	2013-12-13	2013-12-13	2013-12-13	ENSG00000185742	ENSG00000185742			33788	protein-coding gene	gene with protein product	"neuronal integral membrane protein 1"					12477932	Standard	NM_207645		Approved	LOH11CR1A, LOC399947, NEURIM1	uc010rwb.2	Q6NUJ2		ENST00000327419.6:c.182C>T	11.37:g.109294541C>T	ENSP00000331581:p.Thr61Met					RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA	p.T61M	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN			2	585	+			61					B4E169	Missense_Mutation	SNP	ENST00000327419.6	37	c.182C>T	CCDS31672.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	C	19.69	3.875003	0.72180	.	.	ENSG00000185742	ENST00000327419	.	.	.	5.13	5.13	0.70059	.	0.000000	0.53938	U	0.000045	T	0.66655	0.2811	L	0.29908	0.895	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.70223	-0.4931	9	0.87932	D	0	.	16.4561	0.84015	0.0:1.0:0.0:0.0	.	61	Q6NUJ2	CK087_HUMAN	M	61	.	ENSP00000331581:T61M	T	+	2	0	C11orf87	108799751	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.868000	0.75516	2.556000	0.86216	0.655000	0.94253	ACG		0.612	C11orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390403.1	NM_207645		13	66	0	0	0	1	0	13	66					T	109294541	C	T	109294541	3	4	432	1	0	0	0	0	1	0	0	0	1669	536	19	1	184	1	C11orf87	11	109294541	Missense_Mutation	SNP	C	TCGA-FY-A3R6-01A-11D-A21Z-08	62897529	109294541	25711975	13	8824											
A2ML1	144568	broad.mit.edu	37	chr12	8988135	8988135	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaggattgcacagtggctGgaagtggtacctgagcaagg	15	7	0	1			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr12:8988135G>A	ENST00000299698.7	+	6	696	c.516G>A	c.(514-516)ctG>ctA	p.L172L		NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CACAGTGGCTGGAAGTGGTAC	0.532																																						ENST00000299698.7																			0				NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						c.(514-516)ctG>ctA		alpha-2-macroglobulin-like 1							111	116	115					12																	8988135		2059	4210	6269	SO:0001819	synonymous_variant	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:8988135G>A	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"C3 and PZP-like, alpha-2-macroglobulin domain containing 9"	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.516G>A	12.37:g.8988135G>A							p.L172L	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN			6	696	+			16						Silent	SNP	ENST00000299698.7	37	c.516G>A	CCDS8596.2																																																																																				0.532	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		4	166	0	0	0	1	0	4	166					A	8988135	G	A	8988135	2	1	432	1	0	0	0	0	0	0	0	1	5	1335	47	2		2	A2ML1	12	8988135	Silent	SNP	G	TCGA-FY-A3R6-01A-11D-A21Z-08		8988135	124863760	14	8825											
SIRT4	23409	broad.mit.edu	37	chr12	120741654	120741654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcatggtgattttgtccGgagtgccccaatccgccagc	11	14	0	1			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr12:120741654G>A	ENST00000202967.4	+	2	349	c.290G>A	c.(289-291)cGg>cAg	p.R97Q		NM_012240.2	NP_036372.1			sirtuin 4											haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GATTTTGTCCGGAGTGCCCCA	0.582																																						ENST00000202967.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9						c.(289-291)cGg>cAg		sirtuin 4							51	46	47					12																	120741654		2203	4300	6503	SO:0001583	missense	23409				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding	g.chr12:120741654G>A	AF083109	CCDS9194.1	12q24.31	2010-06-25	2010-06-25		ENSG00000089163	ENSG00000089163			14932	protein-coding gene	gene with protein product		604482	"sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 4", "sirtuin (silent mating type information regulation 2 homolog) 4 (S. cerevisiae)"			10381378	Standard	NM_012240		Approved	SIR2L4	uc001tyc.3	Q9Y6E7	OTTHUMG00000169028	ENST00000202967.4:c.290G>A	12.37:g.120741654G>A	ENSP00000202967:p.Arg97Gln						p.R97Q	NM_012240.2	NP_036372.1	Q9Y6E7	SIRT4_HUMAN			2	349	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		97			Deacetylase sirtuin-type.			Missense_Mutation	SNP	ENST00000202967.4	37	c.290G>A	CCDS9194.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.629543	0.28978	.	.	ENSG00000089163	ENST00000536460;ENST00000202967	T;T	0.17054	2.3;2.3	5.39	1.17	0.20885	.	0.274240	0.43110	N	0.000608	T	0.16896	0.0406	L	0.56396	1.775	0.47183	D	0.999343	B	0.25667	0.131	B	0.28232	0.087	T	0.04481	-1.0948	10	0.42905	T	0.14	-7.8856	9.181	0.37141	0.3711:0.0:0.6289:0.0	.	97	Q9Y6E7	SIRT4_HUMAN	Q	38;97	ENSP00000444838:R38Q;ENSP00000202967:R97Q	ENSP00000202967:R97Q	R	+	2	0	SIRT4	119226037	0.987000	0.35691	0.001000	0.08648	0.322000	0.28314	1.866000	0.39489	0.007000	0.14760	-0.365000	0.07479	CGG		0.582	SIRT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402003.1	NM_012240		3	44	0	0	0	1	0	3	44					A	120741654	G	A	120741654	3	1	432	1	0	0	0	0	1	0	0	0	14340	1116	39	1	292	1	SIRT4	12	120741654	Missense_Mutation	SNP	G	TCGA-FY-A3R6-01A-11D-A21Z-08	111753519	120741654	13110241	15	8826											
SALL2	6297	broad.mit.edu	37	chr14	21991334	21991336	+	In_Frame_Del	DEL	GGT	GGT	-													gaggctgatccaggctgtcaGgtggtggtggtggtggcaaa					rs113881459|rs569568436		TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr14:21991334_21991336delGGT	ENST00000327430.3	-	2	2820_2822	c.2526_2528delACC	c.(2524-2529)ccacct>cct	p.842_843PP>P	SALL2_ENST00000450879.2_In_Frame_Del_p.705_706PP>P|SALL2_ENST00000317492.5_Intron|AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	842	Poly-Pro.				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(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CAGGCTGTCAGGTGGTGGTGGTG	0.571																																						ENST00000327430.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43						c.(2524-2529)cct>cc		spalt-like transcription factor 2				1,4263		0,1,2131						1.2	0.7			58	6,8248		0,6,4121	no	coding	SALL2	NM_005407.1		0,7,6252	A1A1,A1R,RR		0.0727,0.0235,0.0559				7,12511				SO:0001651	inframe_deletion	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21991334_21991336delGGT	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"Zinc fingers, C2H2-type"	10526	protein-coding gene	gene with protein product		602219	"sal (Drosophila)-like 2", "sal-like 2 (Drosophila)"			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.2526_2528delACC	14.37:g.21991343_21991345delGGT	ENSP00000333537:p.Pro843del					SALL2_ENST00000450879.2_In_Frame_Del_p.PP705del|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron	p.PP842del	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	2820_2822	-	all_cancers(95;0.000662)		842			Poly-Pro.		B2RMX6|B9EGK8|Q8N656|Q9Y4G1	In_Frame_Del	DEL	ENST00000327430.3	37	c.2526_2528delACC	CCDS32045.1																																																																																				0.571	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		7	119						7	119	---	---	---	---	-	21991336	GGT	-	21991334	7	5	432	1	0	1	0	1	0	0	0	0	13811	1000	35	0	499	0	SALL2	14	21991334	In_Frame_Del	DEL	GGT	TCGA-FY-A3R6-01A-11D-A21Z-08		21991334	85358206	16	8827											
LTB4R2	56413	broad.mit.edu	37	chr14	24780427	24780428	+	Frame_Shift_Del	DEL	CT	CT	-													cgcccacctgagcctggagaCtctgaccgctttcgtgcttc					rs374257326	byFrequency	TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr14:24780427_24780428delCT	ENST00000528054.1	+	1	2267_2268	c.650_651delCT	c.(649-651)actfs	p.T217fs	CIDEB_ENST00000555817.1_Intron|LTB4R_ENST00000345363.3_5'Flank|CIDEB_ENST00000554411.1_5'Flank|LTB4R2_ENST00000543919.1_Frame_Shift_Del_p.T186fs|CIDEB_ENST00000258807.5_5'UTR|CIDEB_ENST00000336557.5_5'UTR|LTB4R2_ENST00000533293.1_Frame_Shift_Del_p.T186fs|LTB4R_ENST00000396789.4_5'Flank			Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	217					chemotaxis (GO:0006935)|keratinocyte migration (GO:0051546)|negative regulation of adenylate cyclase activity (GO:0007194)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene B4 receptor activity (GO:0001632)|leukotriene receptor activity (GO:0004974)			endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		AGCCTGGAGACTCTGACCGCTT	0.738														9	0.00179712	0	0	5008	,	,		13697	0.0079		0	False		,,,				2504	0.001					ENST00000528054.1																			0				endometrium(1)|lung(1)|ovary(1)	3						c.(649-651)afs		leukotriene B4 receptor 2			,,	1,4243		0,1,2121					,,	4.5	1.0			21	0,8166		0,0,4083	no	frameshift,utr-5,frameshift	CIDEB,LTB4R2	NM_019839.4,NM_014430.2,NM_001164692.2	,,	0,1,6204	A1A1,A1R,RR		0.0,0.0236,0.0081	,,	,,		1,12409				SO:0001589	frameshift_variant	56413				chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane		g.chr14:24780427_24780428delCT	AB008193	CCDS9625.1, CCDS9625.2	14q12	2014-04-11			ENSG00000213906	ENSG00000213906		"GPCR / Class A : Leukotriene receptors"	19260	protein-coding gene	gene with protein product		605773				11006272, 10934229	Standard	NM_001164692		Approved	BLTR2, BLT2, JULF2, NOP9	uc001wor.3	Q9NPC1	OTTHUMG00000186500	ENST00000528054.1:c.650_651delCT	14.37:g.24780429_24780430delCT	ENSP00000432146:p.Thr217fs					CIDEB_ENST00000336557.5_5'UTR|CIDEB_ENST00000258807.5_5'UTR|LTB4R2_ENST00000543919.1_Frame_Shift_Del_p.T186fs|LTB4R2_ENST00000533293.1_Frame_Shift_Del_p.T186fs|CIDEB_ENST00000555817.1_Intron	p.T217fs			Q9NPC1	LT4R2_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	1	2267_2268	+			217					Q5KU28|Q9NPE5	Frame_Shift_Del	DEL	ENST00000528054.1	37	c.650_651delCT																																																																																					0.738	LTB4R2-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000073194.4			7	17						7	17	---	---	---	---	-	24780428	CT	-	24780427	7	5	432	1	0	1	0	1	0	0	0	0	9072	565	20	0	559	0	LTB4R2	14	24780427	Frame_Shift_Del	DEL	CT	TCGA-FY-A3R6-01A-11D-A21Z-08	2789093	24780427	82569113	17	8828											
KIAA1609	57707	broad.mit.edu	37	chr16	84520509	84520509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgacgctcagggaccaggGtagtcagatcaagagacgag	14	9	3	3			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr16:84520509G>A	ENST00000343629.6	-	5	868	c.686C>T	c.(685-687)aCc>aTc	p.T229I	TLDC1_ENST00000561807.1_5'Flank|TLDC1_ENST00000535580.1_Missense_Mutation_p.T202I	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	229						lysosomal membrane (GO:0005765)											AGGGACCAGGGTAGTCAGATC	0.562																																						ENST00000343629.6																			0											c.(685-687)aCc>aTc		TBC/LysM-associated domain containing 1							51	47	49					16																	84520509		2200	4300	6500	SO:0001583	missense	57707							g.chr16:84520509G>A	AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"TLD domain containing 1"		"KIAA1609"	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.686C>T	16.37:g.84520509G>A	ENSP00000343635:p.Thr229Ile					TLDC1_ENST00000535580.1_Missense_Mutation_p.T202I	p.T229I	NM_020947.3	NP_065998.3					5	868	-								Q8IZ64|Q9HCG3|Q9NTE8	Missense_Mutation	SNP	ENST00000343629.6	37	c.686C>T	CCDS32498.1	.	.	.	.	.	.	.	.	.	.	G	3.573	-0.087123	0.07097	.	.	ENSG00000140950	ENST00000343629;ENST00000535580	T;T	0.10573	3.04;2.86	4.98	1.32	0.21799	.	1.125910	0.06602	N	0.754030	T	0.13798	0.0334	M	0.68952	2.095	0.09310	N	1	P;B	0.45078	0.85;0.126	B;B	0.40285	0.325;0.055	T	0.31916	-0.9926	10	0.32370	T	0.25	-14.9371	8.152	0.31145	0.0:0.2401:0.5333:0.2266	.	202;229	F5GWS3;Q6P9B6	.;K1609_HUMAN	I	229;202	ENSP00000343635:T229I;ENSP00000441997:T202I	ENSP00000343635:T229I	T	-	2	0	KIAA1609	83078010	0.095000	0.21747	0.219000	0.23793	0.011000	0.07611	0.404000	0.20999	1.067000	0.40740	0.563000	0.77884	ACC		0.562	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947		3	69	0	0	0	1	0	3	69					A	84520509	G	A	84520509	3	1	432	1	0	0	0	0	1	0	0	0	8247	1261	44	2	700	2	KIAA1609	16	84520509	Missense_Mutation	SNP	G	TCGA-FY-A3R6-01A-11D-A21Z-08		84520509	5834244	18	8829											
MED9	55090	broad.mit.edu	37	chr17	17394705	17394707	+	In_Frame_Del	DEL	CAG	CAG	-													gcatccacctgagccccgaaCagcagcagcagcagctgcag							TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr17:17394705_17394707delCAG	ENST00000268711.3	+	2	393_395	c.337_339delCAG	c.(337-339)cagdel	p.Q117del		NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	117						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GAGCCCCGAACAGCAGCAGCAGC	0.581																																						ENST00000268711.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(337-339)del		mediator complex subunit 9																																				SO:0001651	inframe_deletion	55090				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding	g.chr17:17394705_17394707delCAG	BC000647	CCDS11184.1	17p11.2	2007-07-30	2007-07-30		ENSG00000141026	ENSG00000141026			25487	protein-coding gene	gene with protein product		609878	"mediator of RNA polymerase II transcription, subunit 9 homolog (S. cerevisiae)"			11997338	Standard	NM_018019		Approved	FLJ10193, MED25	uc002grh.1	Q9NWA0	OTTHUMG00000059293	ENST00000268711.3:c.337_339delCAG	17.37:g.17394714_17394716delCAG	ENSP00000268711:p.Gln117del						p.Q117del	NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN			2	393_395	+			117						In_Frame_Del	DEL	ENST00000268711.3	37	c.337_339delCAG	CCDS11184.1																																																																																				0.581	MED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131669.2	NM_018019		7	172						7	172	---	---	---	---	-	17394707	CAG	-	17394705	7	5	432	1	0	1	0	1	0	0	0	0	9454	479	17	0	343	0	MED9	17	17394705	In_Frame_Del	DEL	CAG	TCGA-FY-A3R6-01A-11D-A21Z-08		17394705	63800505	19	8830											
EPB41L3	23136	broad.mit.edu	37	chr18	5395089	5395089	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcatggtcaatgtctgcatCccccgtgatgactattcgct	9	12	3	2			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr18:5395089C>T	ENST00000341928.2	-	21	3470	c.3130G>A	c.(3130-3132)Gat>Aat	p.D1044N	EPB41L3_ENST00000342933.3_Missense_Mutation_p.D1044N|EPB41L3_ENST00000540638.2_Missense_Mutation_p.D822N|EPB41L3_ENST00000542146.1_Missense_Mutation_p.D349N|EPB41L3_ENST00000427684.2_Missense_Mutation_p.D341N|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000400111.3_Missense_Mutation_p.D822N|EPB41L3_ENST00000544123.1_Missense_Mutation_p.D875N	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1044	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						ATGTCTGCATCCCCCGTGATG	0.443																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(3130-3132)Gat>Aat		erythrocyte membrane protein band 4.1-like 3							154	132	139					18																	5395089		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5395089C>T	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.3130G>A	18.37:g.5395089C>T	ENSP00000343158:p.Asp1044Asn					EPB41L3_ENST00000400111.3_Missense_Mutation_p.D822N|EPB41L3_ENST00000542146.1_Missense_Mutation_p.D349N|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000427684.2_Missense_Mutation_p.D341N|EPB41L3_ENST00000544123.1_Missense_Mutation_p.D875N|EPB41L3_ENST00000540638.2_Missense_Mutation_p.D822N|EPB41L3_ENST00000342933.3_Missense_Mutation_p.D1044N	p.D1044N	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			21	3470	-			1044			Carboxyl-terminal (CTD).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.3130G>A	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	36	5.821022	0.96989	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	D;D;D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99;-1.99	5.93	5.93	0.95920	Band 4.1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94282	0.8163	M	0.90542	3.125	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;0.998;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.994;0.995;0.999;1.0;0.999;0.991;1.0;1.0	D	0.94480	0.7692	10	0.87932	D	0	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	875;341;349;436;713;822;1044;279	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	N	1044;713;875;713;341;349;1044;822	ENSP00000343158:D1044N;ENSP00000441174:D875N;ENSP00000392195:D341N;ENSP00000442233:D349N;ENSP00000341138:D1044N;ENSP00000382981:D822N	ENSP00000343158:D1044N	D	-	1	0	EPB41L3	5385089	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	7.770000	0.85390	2.826000	0.97356	0.655000	0.94253	GAT		0.443	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		21	100	0	0	0	1	0	21	100					T	5395089	C	T	5395089	3	4	432	1	0	0	0	0	1	0	0	0	5154	855	30	2	141	2	EPB41L3	18	5395089	Missense_Mutation	SNP	C	TCGA-FY-A3R6-01A-11D-A21Z-08		5395089	72682159	20	8831											
COL5A3	50509	broad.mit.edu	37	chr19	10108779	10108779	+	Splice_Site	DEL	T	T	-													cacaatccagacccctcaccTtttcaatcactgcgggctct							TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr19:10108779delT	ENST00000264828.3	-	9	1242	c.1157delA	c.(1156-1158)aag>ag	p.K386fs	CTD-2553C6.1_ENST00000592332.1_RNA	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	386	Nonhelical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			ACCCCTCACCTTTTCAATCAC	0.552																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.e9+1		collagen, type V, alpha 3							273	254	260					19																	10108779		2203	4300	6503	SO:0001630	splice_region_variant	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10108779delT	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.1158+1A>-	19.37:g.10108779delT							p.K386_splice	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		9	1242	-			386			Nonhelical region.		Q9NZQ6	Splice_Site	DEL	ENST00000264828.3	37	c.1158_splice	CCDS12222.1																																																																																				0.552	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719	Frame_Shift_Del	7	664						7	664	---	---	---	---	-	10108779	T	-	10108779	8	5	432	1	0	1	0	1	0	0	1	0	3698	1623	56	0	4316	0	COL5A3	19	10108779	Splice_Site	DEL	T	TCGA-FY-A3R6-01A-11D-A21Z-08		10108779	49020204	21	8832											
KRTAP10-7	386675	broad.mit.edu	37	chr21	46021268	46021268	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtgtgcccacctgctcTgatgattccggttcatgctg	11	12	2	2			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr21:46021268T>G	ENST00000380102.2	+	1	772	c.747T>G	c.(745-747)tcT>tcG	p.S249S	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	249	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CCACCTGCTCTGATGATTCCG	0.642																																						ENST00000380102.2																			0				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(745-747)tcT>tcG		keratin associated protein 10-7							153	152	152					21																	46021268		2203	4300	6503	SO:0001819	synonymous_variant	386675					keratin filament		g.chr21:46021268T>G	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"Keratin associated proteins"	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.747T>G	21.37:g.46021268T>G						TSPEAR_ENST00000323084.4_Intron	p.S249S	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN			1	772	+			249			30 X 5 AA repeats of C-C-X(3).		Q0VDJ8|Q70LJ2	Silent	SNP	ENST00000380102.2	37	c.747T>G																																																																																					0.642	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689		52	243	0	0	0	1	0	52	243					G	46021268	T	G	46021268	2	3	432	1	0	0	0	0	0	0	0	1	8514	1567	55	5		5	KRTAP10-7	21	46021268	Silent	SNP	T	TCGA-FY-A3R6-01A-11D-A21Z-08		46021268	2108627	22	8833											
PRMT2	3275	broad.mit.edu	37	chr21	48069639	48069639	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggtgtctgagtggatgggGacctgcctgctggtgagggc	19	8	1	2			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr21:48069639G>A	ENST00000397637.1	+	6	1596	c.642G>A	c.(640-642)ggG>ggA	p.G214G	PRMT2_ENST00000451211.2_Silent_p.G214G|PRMT2_ENST00000440086.1_Silent_p.G214G|PRMT2_ENST00000397638.2_Silent_p.G214G|PRMT2_ENST00000491389.1_3'UTR|PRMT2_ENST00000334494.4_Silent_p.G214G|PRMT2_ENST00000291705.6_Silent_p.G214G|PRMT2_ENST00000397628.1_Silent_p.G214G|PRMT2_ENST00000355680.3_Silent_p.G214G|PRMT2_ENST00000458387.2_Silent_p.G214G			P55345	ANM2_HUMAN	protein arginine methyltransferase 2	214	Interaction with ESR1.|SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				developmental cell growth (GO:0048588)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|protein methylation (GO:0006479)|regulation of androgen receptor signaling pathway (GO:0060765)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (GO:0042054)|histone-arginine N-methyltransferase activity (GO:0008469)|peroxisome proliferator activated receptor binding (GO:0042975)|progesterone receptor binding (GO:0033142)|protein homodimerization activity (GO:0042803)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|retinoic acid receptor binding (GO:0042974)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		AGTGGATGGGGACCTGCCTGC	0.657																																						ENST00000397637.1																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(640-642)ggG>ggA		protein arginine methyltransferase 2							86	57	66					21																	48069639		2203	4300	6503	SO:0001819	synonymous_variant	3275				developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity	g.chr21:48069639G>A	U80213	CCDS13737.1, CCDS56219.1, CCDS56220.1, CCDS68230.1, CCDS68231.1, CCDS74806.1	21q22.3	2014-06-12	2006-02-16	2006-02-16	ENSG00000160310	ENSG00000160310	2.1.1.125	"Protein arginine methyltransferases"	5186	protein-coding gene	gene with protein product		601961	"HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 1", "HMT1 hnRNP methyltransferase-like 1 (S. cerevisiae)"	HRMT1L1		9545638	Standard	XM_005261111		Approved	MGC111373	uc002zjy.3	P55345	OTTHUMG00000048806	ENST00000397637.1:c.642G>A	21.37:g.48069639G>A						PRMT2_ENST00000458387.2_Silent_p.G214G|PRMT2_ENST00000440086.1_Silent_p.G214G|PRMT2_ENST00000397638.2_Silent_p.G214G|PRMT2_ENST00000397628.1_Silent_p.G214G|PRMT2_ENST00000291705.6_Silent_p.G214G|PRMT2_ENST00000355680.3_Silent_p.G214G|PRMT2_ENST00000491389.1_3'UTR|PRMT2_ENST00000334494.4_Silent_p.G214G|PRMT2_ENST00000451211.2_Silent_p.G214G	p.G214G			P55345	ANM2_HUMAN		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)	6	1596	+	Breast(49;0.247)	Lung NSC(3;0.245)	214			Interaction with ESR1.		B7U630|B7U631|B7U632|P78350|Q498Y5|Q5U7D4|Q6FHF0|Q99781|Q9BW15|Q9UMC2	Silent	SNP	ENST00000397637.1	37	c.642G>A	CCDS13737.1	.	.	.	.	.	.	.	.	.	.	.	10.82	1.459335	0.26248	.	.	ENSG00000160310	ENST00000455177	T	0.23950	1.88	4.97	-1.28	0.09318	.	0.000000	0.85682	D	0.000000	T	0.39682	0.1087	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47686	-0.9098	7	0.87932	D	0	-15.4336	12.9639	0.58473	0.082:0.6963:0.2218:0.0	.	.	.	.	E	154	ENSP00000406127:G154E	ENSP00000406127:G154E	G	+	2	0	PRMT2	46894067	0.931000	0.31567	0.998000	0.56505	0.994000	0.84299	-0.231000	0.09069	-0.034000	0.13713	-0.176000	0.13171	GGA		0.657	PRMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207401.1	NM_001535		3	37	0	0	0	1	0	3	37					A	48069639	G	A	48069639	2	1	432	1	0	0	0	0	0	0	0	1	12537	1161	41	2		2	PRMT2	21	48069639	Silent	SNP	G	TCGA-FY-A3R6-01A-11D-A21Z-08	2048371	48069639	60256	23	8834											
CARD10	29775	broad.mit.edu	37	chr22	37888680	37888680	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acacttggaagtccagccggGagctgggcaggtctagcagg	16	10	1	0			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr22:37888680G>A	ENST00000403299.1	-	18	2822	c.2606C>T	c.(2605-2607)tCc>tTc	p.S869F	CARD10_ENST00000406271.3_Missense_Mutation_p.S583F|CARD10_ENST00000251973.5_Missense_Mutation_p.S869F			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	869					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GTCCAGCCGGGAGCTGGGCAG	0.682																																						ENST00000403299.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(2605-2607)tCc>tTc		caspase recruitment domain family, member 10							26	25	26					22																	37888680		2201	4296	6497	SO:0001583	missense	29775				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity	g.chr22:37888680G>A	AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.2606C>T	22.37:g.37888680G>A	ENSP00000384570:p.Ser869Phe					CARD10_ENST00000406271.3_Missense_Mutation_p.S583F|CARD10_ENST00000251973.5_Missense_Mutation_p.S869F	p.S869F			Q9BWT7	CAR10_HUMAN			18	2822	-	Melanoma(58;0.0574)		869					Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Missense_Mutation	SNP	ENST00000403299.1	37	c.2606C>T	CCDS13948.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003758	0.74932	.	.	ENSG00000100065	ENST00000403299;ENST00000406271;ENST00000251973	T;T;T	0.48836	0.8;2.49;0.8	4.81	4.81	0.61882	.	0.000000	0.64402	D	0.000001	T	0.64800	0.2631	L	0.59436	1.845	0.35435	D	0.794386	D;D	0.89917	0.999;1.0	D;D	0.83275	0.996;0.984	T	0.73754	-0.3883	10	0.62326	D	0.03	-28.352	15.1863	0.73006	0.0:0.0:1.0:0.0	.	869;583	Q9BWT7;Q8NC81	CAR10_HUMAN;.	F	869;583;869	ENSP00000384570:S869F;ENSP00000385799:S583F;ENSP00000251973:S869F	ENSP00000251973:S869F	S	-	2	0	CARD10	36218626	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.414000	0.59802	2.516000	0.84829	0.655000	0.94253	TCC		0.682	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550		6	32	0	0	0	1	0	6	32					A	37888680	G	A	37888680	3	1	432	1	0	0	0	0	1	0	0	0	2644	1174	41	2	508	2	CARD10	22	37888680	Missense_Mutation	SNP	G	TCGA-FY-A3R6-01A-11D-A21Z-08		37888680	13415886	24	8835											
ZCCHC5	203430	broad.mit.edu	37	chrX	77912899	77912899	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caatgaggtggaagtgggttGctacatgaccctccccttgg	13	10	0	2			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chrX:77912899G>T	ENST00000321110.1	-	2	1314	c.1019C>A	c.(1018-1020)gCa>gAa	p.A340E		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	340							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GAAGTGGGTTGCTACATGACC	0.453																																						ENST00000321110.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						c.(1018-1020)gCa>gAa		zinc finger, CCHC domain containing 5							89	73	78					X																	77912899		2203	4300	6503	SO:0001583	missense	203430						nucleic acid binding|zinc ion binding	g.chrX:77912899G>T	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"Zinc fingers, CCHC domain containing"	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.1019C>A	X.37:g.77912899G>T	ENSP00000316794:p.Ala340Glu						p.A340E	NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN			2	1314	-			340					B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	c.1019C>A	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	G	1.113	-0.657472	0.03480	.	.	ENSG00000179300	ENST00000321110	T	0.22134	1.97	3.2	-0.938	0.10412	.	3.060580	0.02042	U	0.049366	T	0.16811	0.0404	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27571	-1.0070	10	0.48119	T	0.1	.	6.58	0.22588	0.6116:0.0:0.3884:0.0	.	340	Q8N8U3	ZCHC5_HUMAN	E	340	ENSP00000316794:A340E	ENSP00000316794:A340E	A	-	2	0	ZCCHC5	77799555	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.361000	0.20267	-0.405000	0.07599	-0.322000	0.08575	GCA		0.453	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		8	43	1	0	1	1	1	8	43					T	77912899	G	T	77912899	3	4	432	1	0	0	0	0	1	0	0	0	17588	1319	46	4	412	4	ZCCHC5	23	77912899	Missense_Mutation	SNP	G	TCGA-FY-A3R6-01A-11D-A21Z-08		77912899	77357661	25	8836											
ASH1L	55870	broad.mit.edu	37	chr1	155491013	155491013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atagttctccaagttctttgGaggttttttagttctcttag	8	6	3	0			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr1:155491013G>A	ENST00000368346.3	-	2	937	c.298C>T	c.(298-300)Cca>Tca	p.P100S	ASH1L_ENST00000548830.1_Missense_Mutation_p.P100S|ASH1L_ENST00000392403.3_Missense_Mutation_p.P100S			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	100					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)			AAGTTCTTTGGAGGTTTTTTA	0.373																																						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.(298-300)Cca>Tca		ash1 (absent, small, or homeotic)-like (Drosophila)							165	169	168					1																	155491013		2202	4300	6502	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.chr1:155491013G>A	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.298C>T	1.37:g.155491013G>A	ENSP00000357330:p.Pro100Ser					ASH1L_ENST00000548830.1_Missense_Mutation_p.P100S|ASH1L_ENST00000392403.3_Missense_Mutation_p.P100S	p.P100S			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		2	937	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		100					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.298C>T		.	.	.	.	.	.	.	.	.	.	G	23.1	4.369528	0.82463	.	.	ENSG00000116539	ENST00000368346;ENST00000392403;ENST00000548830	D;D	0.98437	-4.93;-4.93	5.89	4.97	0.65823	.	0.168795	0.41605	D	0.000846	D	0.93510	0.7929	L	0.27053	0.805	0.58432	D	0.999998	B;B	0.09022	0.001;0.002	B;B	0.12156	0.003;0.007	D	0.91257	0.5034	10	0.87932	D	0	.	14.436	0.67282	0.071:0.0:0.929:0.0	.	100;100	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	S	100	ENSP00000357330:P100S;ENSP00000376204:P100S	ENSP00000357330:P100S	P	-	1	0	ASH1L	153757637	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.926000	0.92839	1.489000	0.48450	0.557000	0.71058	CCA		0.373	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		6	220	0	0	0	1	0	6	220					A	155491013	G	A	155491013	3	1	433	1	0	0	0	0	1	0	0	0	1041	1174	41	2	8704	2	ASH1L	1	155491013	Missense_Mutation	SNP	G	TCGA-FY-A3R7-01A-11D-A21Z-08		155491013	93759608	1	8837											
TMCO1	54499	broad.mit.edu	37	chr1	165712550	165712551	+	Splice_Site	INS	-	-	A													accactctaccatcaaatctINSaaaagaaaaaaaaaaaaaaa							TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr1:165712550_165712551insA	ENST00000392129.6	-	6	474		c.e6-2		TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000367881.5_Splice_Site|TMCO1_ENST00000580248.1_Splice_Site	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1							endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CCATCAAATCTAAAAGAAAAAA	0.381																																						ENST00000367881.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9						c.e6-2		transmembrane and coiled-coil domains 1																																				SO:0001630	splice_region_variant	54499					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr1:165712550_165712551insA	AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183			18188	protein-coding gene	gene with protein product		614123	"transmembrane and coiled-coil domains 4"	TMCC4		8619474, 9110174	Standard	NM_019026		Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000392129.6:c.324-2->T	1.37:g.165712554_165712554dupA						TMCO1_ENST00000580248.1_Splice_Site|TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000392129.6_Splice_Site				Q9UM00	TMCO1_HUMAN			6	752	-	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)							B2REA0|O75545|Q9BZS3|Q9BZU8	Splice_Site	INS	ENST00000392129.6	37																																																																																						0.381	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467850.1	NM_019026	Intron	7	101						7	101	---	---	---	---	A	165712551	-	A	165712550	8	5	433	1	0	1	1	0	0	0	1	0	15992	1536	53	0	252	0	TMCO1	1	165712550	Splice_Site	INS	-	TCGA-FY-A3R7-01A-11D-A21Z-08	10221537	165712550	83538071	2	8838											
TNR	7143	broad.mit.edu	37	chr1	175372615	175372615	+	Frame_Shift_Del	DEL	C	C	-													gcactggccatccacacacaCcccccggctggagcaaccca							TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr1:175372615delC	ENST00000367674.2	-	4	1345	c.637delG	c.(637-639)gtgfs	p.V213fs	TNR_ENST00000263525.2_Frame_Shift_Del_p.V213fs			Q92752	TENR_HUMAN	tenascin R	213	Cys-rich.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCCACACACACCCCCCGGCTG	0.607																																						ENST00000367674.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(637-639)tgfs		tenascin R							104	109	107					1																	175372615		2203	4300	6503	SO:0001589	frameshift_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175372615delC	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.637delG	1.37:g.175372615delC	ENSP00000356646:p.Val213fs					TNR_ENST00000263525.2_Frame_Shift_Del_p.V213fs	p.V213fs	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			4	1345	-	Renal(580;0.146)		213			Cys-rich.		C9J563|Q15568|Q5R3G0	Frame_Shift_Del	DEL	ENST00000367674.2	37	c.637delG	CCDS1318.1																																																																																				0.607	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		7	338						7	338	---	---	---	---	-	175372615	C	-	175372615	7	5	433	1	0	1	0	1	0	0	0	0	16335	507	18	0	3519	0	TNR	1	175372615	Frame_Shift_Del	DEL	C	TCGA-FY-A3R7-01A-11D-A21Z-08	9660065	175372615	73878006	3	8839											
C2orf42	54980	broad.mit.edu	37	chr2	70402827	70402827	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcctttttaacgaggaagcAaccacaggctttttcaggcc	9	11	1	0			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr2:70402827A>C	ENST00000264434.2	-	5	1396	c.1017T>G	c.(1015-1017)gtT>gtG	p.V339V	C2orf42_ENST00000420306.1_Silent_p.V339V	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	339										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						ACGAGGAAGCAACCACAGGCT	0.438																																						ENST00000264434.2																			0				endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						c.(1015-1017)gtT>gtG		chromosome 2 open reading frame 42							217	215	216					2																	70402827		2203	4300	6503	SO:0001819	synonymous_variant	54980							g.chr2:70402827A>C	AK000565	CCDS1899.1	2p14	2011-03-08			ENSG00000115998	ENSG00000115998			26056	protein-coding gene	gene with protein product						12477932	Standard	XM_005264389		Approved	FLJ20558	uc002sgh.3	Q9NWW7	OTTHUMG00000129642	ENST00000264434.2:c.1017T>G	2.37:g.70402827A>C						C2orf42_ENST00000420306.1_Silent_p.V339V	p.V339V	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN			5	1396	-			339					D6W5G3|Q9H629	Silent	SNP	ENST00000264434.2	37	c.1017T>G	CCDS1899.1																																																																																				0.438	C2orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251840.1	NM_017880		7	363	0	0	0	1	0	7	363					C	70402827	A	C	70402827	2	2	433	1	0	0	0	0	0	0	0	1	2166	117	5	5		5	C2orf42	2	70402827	Silent	SNP	A	TCGA-FY-A3R7-01A-11D-A21Z-08		70402827	172796546	4	8840											
RAB11FIP5	26056	broad.mit.edu	37	chr2	73315337	73315339	+	In_Frame_Del	DEL	TGG	TGG	-													actcgctccgacttaggcctTggtggtggtggtggaagaga							TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr2:73315337_73315339delTGG	ENST00000258098.6	-	3	1647_1649	c.1407_1409delCCA	c.(1405-1410)caccaa>caa	p.H469del	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	469					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						ACTTAGGCCTTGGTGGTGGTGGT	0.635																																						ENST00000258098.6																			0				biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1405-1410)caa>ca		RAB11 family interacting protein 5 (class I)																																				SO:0001651	inframe_deletion	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73315337_73315339delTGG	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.1407_1409delCCA	2.37:g.73315346_73315348delTGG	ENSP00000258098:p.His469del					RAB11FIP5_ENST00000493523.2_5'UTR	p.HQ469del	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN			3	1647_1649	-			469					O94939|Q9P0M1	In_Frame_Del	DEL	ENST00000258098.6	37	c.1407_1409delCCA	CCDS1923.1																																																																																				0.635	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		8	294						8	294	---	---	---	---	-	73315339	TGG	-	73315337	7	5	433	1	0	1	0	1	0	0	0	0	12897	1812	63	0	564	0	RAB11FIP5	2	73315337	In_Frame_Del	DEL	TGG	TCGA-FY-A3R7-01A-11D-A21Z-08	2912510	73315337	169884036	5	8841											
THSD7B	80731	broad.mit.edu	37	chr2	138414527	138414527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaacaggttctagaaacaCgcccttgtacaggtaccaag	8	13	1	1			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr2:138414527C>T	ENST00000409968.1	+	23	4445	c.4267C>T	c.(4267-4269)Cgc>Tgc	p.R1423C	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.R1395C|THSD7B_ENST00000272643.3_Missense_Mutation_p.R1426C			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1425	TSP type-1 18. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCTAGAAACACGCCCTTGTAC	0.408																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(4267-4269)Cgc>Tgc		thrombospondin, type I, domain containing 7B							128	128	128					2																	138414527		1845	4096	5941	SO:0001583	missense	80731							g.chr2:138414527C>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.4267C>T	2.37:g.138414527C>T	ENSP00000387145:p.Arg1423Cys					THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.R1426C|THSD7B_ENST00000413152.2_Missense_Mutation_p.R1395C	p.R1423C						BRCA - Breast invasive adenocarcinoma(221;0.19)	23	4445	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.4267C>T		.	.	.	.	.	.	.	.	.	.	C	22.0	4.237263	0.79800	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.56611	0.45;0.45;0.45	6.17	5.25	0.73442	.	0.106913	0.64402	D	0.000007	T	0.71634	0.3363	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.73427	-0.3986	10	0.87932	D	0	.	16.4205	0.83757	0.132:0.868:0.0:0.0	.	1395	C9JKN6	.	C	1423;1426;1395	ENSP00000387145:R1423C;ENSP00000272643:R1426C;ENSP00000413841:R1395C	ENSP00000272643:R1426C	R	+	1	0	THSD7B	138130997	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.200000	0.42724	2.941000	0.99782	0.655000	0.94253	CGC		0.408	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		23	215	0	0	0	1	0	23	215					T	138414527	C	T	138414527	3	4	433	1	0	0	0	0	1	0	0	0	15877	536	19	1	4265	1	THSD7B	2	138414527	Missense_Mutation	SNP	C	TCGA-FY-A3R7-01A-11D-A21Z-08	65099190	138414527	104784846	6	8842											
CDC23	8697	broad.mit.edu	37	chr5	137524750	137524750	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtgaagcaggtaggaaaaAgggagcaggcacctcggtgg	18	6	0	1			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr5:137524750A>G	ENST00000394886.2	-	16	1741	c.1711T>C	c.(1711-1713)Ttt>Ctt	p.F571L		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	571					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGTAGGAAAAAGGGAGCAGGC	0.532																																						ENST00000394886.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23						c.(1711-1713)Ttt>Ctt		cell division cycle 23							204	185	191					5																	137524750		2203	4300	6503	SO:0001583	missense	8697				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity	g.chr5:137524750A>G	AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1724	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 8"	603462	"CDC23 (cell division cycle 23, yeast, homolog)", "cell division cycle 23 homolog (S. cerevisiae)"			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.1711T>C	5.37:g.137524750A>G	ENSP00000378350:p.Phe571Leu						p.F571L	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		16	1741	-			571					A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Missense_Mutation	SNP	ENST00000394886.2	37	c.1711T>C	CCDS4200.2	.	.	.	.	.	.	.	.	.	.	A	7.213	0.595865	0.13875	.	.	ENSG00000094880	ENST00000394886	T	0.40225	1.04	5.29	5.29	0.74685	.	0.117044	0.64402	D	0.000014	T	0.16085	0.0387	N	0.00926	-1.1	0.80722	D	1	B	0.14012	0.009	B	0.09377	0.004	T	0.18053	-1.0349	10	0.10111	T	0.7	-20.9996	15.3818	0.74664	1.0:0.0:0.0:0.0	.	571	Q9UJX2	CDC23_HUMAN	L	571	ENSP00000378350:F571L	ENSP00000378350:F571L	F	-	1	0	CDC23	137552649	1.000000	0.71417	0.996000	0.52242	0.358000	0.29455	4.545000	0.60698	2.225000	0.72522	0.379000	0.24179	TTT		0.532	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2			3	100	0	0	0	1	0	3	100					G	137524750	A	G	137524750	3	3	433	1	0	0	0	0	1	0	0	0	3061	72	3	3	86	3	CDC23	5	137524750	Missense_Mutation	SNP	A	TCGA-FY-A3R7-01A-11D-A21Z-08		137524750	43390510	7	8843											
GALNT10	55568	broad.mit.edu	37	chr5	153789197	153789197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctctccgctggggatgtcGcagtccagaaaaagctccgc	11	14	1	1	rs369435277		TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr5:153789197G>A	ENST00000297107.6	+	9	1398	c.1261G>A	c.(1261-1263)Gca>Aca	p.A421T	GALNT10_ENST00000377657.3_Missense_Mutation_p.A94T|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Missense_Mutation_p.A359T|SAP30L-AS1_ENST00000524264.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	421					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			tggggatgtcgcagtccagaa	0.542																																						ENST00000297107.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(1261-1263)Gca>Aca		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)		G	THR/ALA	0,4406		0,0,2203	99	106	104		1261	-2.3	0.0	5		104	1,8599	1.2+/-3.3	0,1,4299	no	missense	GALNT10	NM_198321.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	421/604	153789197	1,13005	2203	4300	6503	SO:0001583	missense	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153789197G>A	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19873	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 10"	608043	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.1261G>A	5.37:g.153789197G>A	ENSP00000297107:p.Ala421Thr					SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377661.2_Missense_Mutation_p.A359T|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377657.3_Missense_Mutation_p.A94T	p.A421T	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		9	1398	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	421					B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	37	c.1261G>A	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	G	0.097	-1.158273	0.01686	0.0	1.16E-4	ENSG00000164574	ENST00000297107;ENST00000377661;ENST00000377657	T;T;T	0.63744	-0.06;-0.06;1.54	5.08	-2.35	0.06684	.	0.571807	0.20093	N	0.099400	T	0.22936	0.0554	N	0.01081	-1.03	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.26189	-1.0110	10	0.21014	T	0.42	.	5.5526	0.17099	0.2971:0.0:0.489:0.2139	.	359;92;421	Q86SR1-2;D6R8Y1;Q86SR1	.;.;GLT10_HUMAN	T	421;359;94	ENSP00000297107:A421T;ENSP00000366889:A359T;ENSP00000366885:A94T	ENSP00000297107:A421T	A	+	1	0	GALNT10	153769390	0.003000	0.15002	0.000000	0.03702	0.163000	0.22366	0.646000	0.24797	-0.385000	0.07833	-0.254000	0.11334	GCA		0.542	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		5	192	0	0	0	1	0	5	192					A	153789197	G	A	153789197	3	1	433	1	0	0	0	0	1	0	0	0	6208	1087	38	1	1295	1	GALNT10	5	153789197	Missense_Mutation	SNP	G	TCGA-FY-A3R7-01A-11D-A21Z-08	16264447	153789197	27126063	8	8844											
C6orf221	154288	broad.mit.edu	37	chr6	74073506	74073506	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaacaagtcggggacccagCgatcccccgaagctgccagc	11	17	0	0			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr6:74073506C>T	ENST00000370367.3	+	3	630	c.577C>T	c.(577-579)Cga>Tga	p.R193*		NM_001017361.2	NP_001017361.1	Q587J8	KHD3L_HUMAN	KH domain containing 3-like, subcortical maternal complex member	193							RNA binding (GO:0003723)										GGGGACCCAGCGATCCCCCGA	0.642																																						ENST00000370367.3																			0											c.(577-579)Cga>Tga		KH domain containing 3-like, subcortical maternal complex member							33	35	34					6																	74073506		2203	4300	6503	SO:0001587	stop_gained	154288							g.chr6:74073506C>T	AB211062	CCDS34484.1	6q13	2012-06-25	2012-06-25	2012-06-25	ENSG00000203908	ENSG00000203908			33699	protein-coding gene	gene with protein product	"ES cell associated transcript 1"	611687	"chromosome 6 open reading frame 221"	C6orf221		21885028	Standard	NM_001017361		Approved	ECAT1	uc003pgt.4	Q587J8	OTTHUMG00000015024	ENST00000370367.3:c.577C>T	6.37:g.74073506C>T	ENSP00000359392:p.Arg193*						p.R193*	NM_001017361.2	NP_001017361.1					3	630	+								B2RNW7	Nonsense_Mutation	SNP	ENST00000370367.3	37	c.577C>T	CCDS34484.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968332	0.34754	.	.	ENSG00000203908	ENST00000370367	.	.	.	2.24	-0.834	0.10779	.	2.469680	0.01938	N	0.041696	.	.	.	.	.	.	0.43536	D	0.995827	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.1331	0.01749	0.2266:0.4045:0.2222:0.1467	.	.	.	.	X	193	.	ENSP00000359392:R193X	R	+	1	2	C6orf221	74130227	0.001000	0.12720	0.001000	0.08648	0.008000	0.06430	-1.035000	0.03564	-0.217000	0.10033	-0.229000	0.12294	CGA		0.642	KHDC3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041202.3	NM_001017361		4	74	0	0	0	1	0	4	74					T	74073506	C	T	74073506	4	4	433	1	0	0	0	0	0	1	0	0	2355	760	27	1	587	1	C6orf221	6	74073506	Nonsense_Mutation	SNP	C	TCGA-FY-A3R7-01A-11D-A21Z-08		74073506	97041561	9	8845											
PTPRZ1	5803	broad.mit.edu	37	chr7	121652207	121652207	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacaacatctgtgtttggtgAtgataataaggcgctttcta	9	6	2	2			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr7:121652207A>G	ENST00000393386.2	+	12	3518	c.3107A>G	c.(3106-3108)gAt>gGt	p.D1036G	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1036					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GTGTTTGGTGATGATAATAAG	0.363																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(3106-3108)gAt>gGt		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							88	90	89					7																	121652207		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121652207A>G	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.3107A>G	7.37:g.121652207A>G	ENSP00000377047:p.Asp1036Gly					PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	p.D1036G	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			12	3518	+			1036					A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.3107A>G	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	A	9.171	1.021190	0.19433	.	.	ENSG00000106278	ENST00000393386	T	0.54071	0.59	5.41	3.03	0.35002	.	0.237120	0.37095	N	0.002257	T	0.45013	0.1321	M	0.67953	2.075	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.34700	-0.9818	10	0.44086	T	0.13	.	4.319	0.11007	0.6408:0.0:0.2229:0.1363	.	1036	P23471	PTPRZ_HUMAN	G	1036	ENSP00000377047:D1036G	ENSP00000377047:D1036G	D	+	2	0	PTPRZ1	121439443	1.000000	0.71417	0.867000	0.34043	0.996000	0.88848	3.245000	0.51407	0.361000	0.24292	0.528000	0.53228	GAT		0.363	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		4	120	0	0	0	1	0	4	120					G	121652207	A	G	121652207	3	3	433	1	0	0	0	0	1	0	0	0	12814	333	12	3	3153	3	PTPRZ1	7	121652207	Missense_Mutation	SNP	A	TCGA-FY-A3R7-01A-11D-A21Z-08		121652207	37486456	10	8846											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		18	113	0	0	0	1	0	18	113					T	140453136	A	T	140453136	3	4	433	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FY-A3R7-01A-11D-A21Z-08	18800929	140453136	18685527	11	8847											
VDAC3	7419	broad.mit.edu	37	chr8	42259489	42259489	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaactgtcacagaataatttCgccctgggttacaaggctgc	9	10	1	1			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr8:42259489C>T	ENST00000022615.4	+	7	575	c.507C>T	c.(505-507)ttC>ttT	p.F169F	VDAC3_ENST00000521158.1_Silent_p.F170F|VDAC3_ENST00000522572.1_Intron|VDAC3_ENST00000392935.3_Silent_p.F170F			Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3	169					adenine transport (GO:0015853)	extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	nucleotide binding (GO:0000166)|porin activity (GO:0015288)|voltage-gated anion channel activity (GO:0008308)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	AGAATAATTTCGCCCTGGGTT	0.463																																						ENST00000392935.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						c.(508-510)ttC>ttT		voltage-dependent anion channel 3	Dihydroxyaluminium(DB01375)						73	71	71					8																	42259489		2203	4300	6503	SO:0001819	synonymous_variant	7419				adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity	g.chr8:42259489C>T	AF038962	CCDS6131.1, CCDS47850.1	8p11.21	2011-11-15			ENSG00000078668	ENSG00000078668		"Voltage-dependent anion channels"	12674	protein-coding gene	gene with protein product		610029				9653160, 9781040	Standard	NM_001135694		Approved	HD-VDAC3	uc003xpc.3	Q9Y277	OTTHUMG00000164168	ENST00000022615.4:c.507C>T	8.37:g.42259489C>T						VDAC3_ENST00000022615.4_Silent_p.F169F|VDAC3_ENST00000522572.1_Intron|VDAC3_ENST00000521158.1_Silent_p.F170F	p.F170F	NM_001135694.2|NM_005662.6	NP_001129166.1|NP_005653.3	Q9Y277	VDAC3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		7	653	+	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	169					Q9UIS0	Silent	SNP	ENST00000022615.4	37	c.510C>T	CCDS6131.1																																																																																				0.463	VDAC3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377574.1			4	77	0	0	0	1	0	4	77					T	42259489	C	T	42259489	2	4	433	1	0	0	0	0	0	0	0	1	17145	883	31	1		1	VDAC3	8	42259489	Silent	SNP	C	TCGA-FY-A3R7-01A-11D-A21Z-08		42259489	104104533	12	8848											
NECAB1	64168	broad.mit.edu	37	chr8	91804128	91804128	+	Frame_Shift_Del	DEL	A	A	-													cccgaggatggaagattcccAggagacatcgccgtcctcca							TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr8:91804128delA	ENST00000417640.2	+	1	351	c.14delA	c.(13-15)cagfs	p.Q5fs	TMEM64_ENST00000519519.1_5'Flank|NECAB1_ENST00000521954.1_3'UTR	NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	5						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			GAAGATTCCCAGGAGACATCG	0.647																																						ENST00000417640.2																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12						c.(13-15)cgfs		N-terminal EF-hand calcium binding protein 1							34	39	38					8																	91804128		1884	3846	5730	SO:0001589	frameshift_variant	64168				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity	g.chr8:91804128delA	AF414126	CCDS47889.1	8q21.3	2013-01-10	2007-12-06	2007-12-06	ENSG00000123119	ENSG00000123119		"N-terminal EF-hand calcium binding proteins", "EF-hand domain containing"	20983	protein-coding gene	gene with protein product			"EF-hand calcium binding protein 1"	EFCBP1			Standard	NM_022351		Approved		uc011lgg.2	Q8N987	OTTHUMG00000164009	ENST00000417640.2:c.14delA	8.37:g.91804128delA	ENSP00000387380:p.Gln5fs					NECAB1_ENST00000521954.1_3'UTR	p.Q5fs	NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0499)		1	351	+			5					Q6NUS7|Q96AZ7|Q9HBW8	Frame_Shift_Del	DEL	ENST00000417640.2	37	c.14delA	CCDS47889.1																																																																																				0.647	NECAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376728.1	NM_022351		2	4						2	4	---	---	---	---	-	91804128	A	-	91804128	7	5	433	1	0	1	0	1	0	0	0	0	10304	188	7	0	16	0	NECAB1	8	91804128	Frame_Shift_Del	DEL	A	TCGA-FY-A3R7-01A-11D-A21Z-08	49544639	91804128	54559894	13	8849											
PLEKHA7	144100	broad.mit.edu	37	chr11	16863232	16863232	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgagagcccgctgtggagCtgttatagatgagcgctcgc	14	11	0	3			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr11:16863232C>T	ENST00000355661.3	-	9	744	c.734G>A	c.(733-735)aGc>aAc	p.S245N	RN7SKP90_ENST00000363013.1_RNA|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.S245N|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.S245N|PLEKHA7_ENST00000532079.1_Intron			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	245	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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						CGCTGTGGAGCTGTTATAGAT	0.557																																						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.(733-735)aGc>aAc		pleckstrin homology domain containing, family A member 7							72	61	65					11																	16863232		2200	4294	6494	SO:0001583	missense	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16863232C>T	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.734G>A	11.37:g.16863232C>T	ENSP00000347883:p.Ser245Asn					PLEKHA7_ENST00000448080.2_Missense_Mutation_p.S245N|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.S245N	p.S245N			Q6IQ23	PKHA7_HUMAN			9	744	-			245			PH.		B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	ENST00000355661.3	37	c.734G>A	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	C	7.132	0.580113	0.13686	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080	T;T;T	0.06933	3.24;3.24;3.24	4.94	1.75	0.24633	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.398985	0.29165	N	0.012950	T	0.04048	0.0113	N	0.04880	-0.145	0.26592	N	0.973178	B;B	0.24317	0.101;0.0	B;B	0.24974	0.057;0.002	T	0.41556	-0.9502	10	0.27082	T	0.32	-14.542	10.4745	0.44657	0.0:0.5342:0.387:0.0788	.	245;245	E9PKC0;Q6IQ23	.;PKHA7_HUMAN	N	245	ENSP00000435389:S245N;ENSP00000347883:S245N;ENSP00000416895:S245N	ENSP00000347883:S245N	S	-	2	0	PLEKHA7	16819808	1.000000	0.71417	0.975000	0.42487	0.357000	0.29423	1.261000	0.32980	0.742000	0.32697	0.650000	0.86243	AGC		0.557	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		3	70	0	0	0	1	0	3	70					T	16863232	C	T	16863232	3	4	433	1	0	0	0	0	1	0	0	0	12061	797	28	2	2691	2	PLEKHA7	11	16863232	Missense_Mutation	SNP	C	TCGA-FY-A3R7-01A-11D-A21Z-08		16863232	118143284	14	8850											
GRIA4	2893	broad.mit.edu	37	chr11	105845050	105845050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctaggacaagacgagtgCcttgagcctgagcaatgtag	12	11	0	3			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr11:105845050C>T	ENST00000530497.1	+	15	2423	c.2423C>T	c.(2422-2424)gCc>gTc	p.A808V	GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000525187.1_Missense_Mutation_p.A808V|GRIA4_ENST00000282499.5_Missense_Mutation_p.A808V|GRIA4_ENST00000393127.2_Missense_Mutation_p.A808V|RNU6-277P_ENST00000516272.1_RNA			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	808					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		AAGACGAGTGCCTTGAGCCTG	0.463																																						ENST00000393127.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(2422-2424)gCc>gTc		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						176	164	168					11																	105845050		2201	4299	6500	SO:0001583	missense	0				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105845050C>T	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4574	protein-coding gene	gene with protein product		138246	"glutamate receptor, ionotrophic, AMPA 4"	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.2423C>T	11.37:g.105845050C>T	ENSP00000435775:p.Ala808Val					GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000530497.1_Missense_Mutation_p.A808V|GRIA4_ENST00000525187.1_Missense_Mutation_p.A808V|GRIA4_ENST00000282499.5_Missense_Mutation_p.A808V	p.A808V	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	16	2869	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	808					Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.2423C>T	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	C	33	5.210376	0.95069	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.82	5.82	0.92795	Ionotropic glutamate receptor (1);	0.000000	0.64402	D	0.000003	T	0.72510	0.3469	M	0.64170	1.965	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.976;0.998	T	0.73275	-0.4034	10	0.87932	D	0	.	20.0966	0.97849	0.0:1.0:0.0:0.0	.	808;808	P48058;G3V164	GRIA4_HUMAN;.	V	808	ENSP00000282499:A808V;ENSP00000376835:A808V;ENSP00000435775:A808V;ENSP00000432180:A808V	ENSP00000282499:A808V	A	+	2	0	GRIA4	105350260	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.792000	0.85828	2.751000	0.94390	0.650000	0.86243	GCC		0.463	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			4	195	0	0	0	1	0	4	195					T	105845050	C	T	105845050	3	4	433	1	0	0	0	0	1	0	0	0	6770	739	26	2	2637	2	GRIA4	11	105845050	Missense_Mutation	SNP	C	TCGA-FY-A3R7-01A-11D-A21Z-08	88981818	105845050	29161466	15	8851											
SLC2A14	144195	broad.mit.edu	37	chr12	7984255	7984255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagccgatcatacccccgaCggaaaatatggccacagaca	10	13	1	1			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr12:7984255C>T	ENST00000543909.1	-	9	1045	c.286G>A	c.(286-288)Gtc>Atc	p.V96I	SLC2A14_ENST00000431042.2_Missense_Mutation_p.V73I|SLC2A14_ENST00000539924.1_Missense_Mutation_p.V111I|SLC2A14_ENST00000396589.2_Missense_Mutation_p.V96I|SLC2A14_ENST00000340749.5_Missense_Mutation_p.V73I|SLC2A14_ENST00000535295.1_Intron|SLC2A14_ENST00000542546.1_Intron|SLC2A14_ENST00000542505.1_Intron			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	96					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		ATACCCCCGACGGAAAATATG	0.493											OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000543909.1																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38						c.(286-288)Gtc>Atc		solute carrier family 2 (facilitated glucose transporter), member 14							107	99	102					12																	7984255		2203	4300	6503	SO:0001583	missense	144195				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	g.chr12:7984255C>T	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"Solute carriers"	18301	protein-coding gene	gene with protein product		611039	"solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.286G>A	12.37:g.7984255C>T	ENSP00000440480:p.Val96Ile		OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	645	SLC2A14_ENST00000539924.1_Missense_Mutation_p.V111I|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000431042.2_Missense_Mutation_p.V73I|SLC2A14_ENST00000542546.1_Intron|SLC2A14_ENST00000340749.5_Missense_Mutation_p.V73I|SLC2A14_ENST00000396589.2_Missense_Mutation_p.V96I|SLC2A14_ENST00000535295.1_Intron	p.V96I			Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	9	1045	-			96					B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	c.286G>A	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	T	8.369	0.834898	0.16820	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000539924;ENST00000546234;ENST00000542782;ENST00000535344;ENST00000537557;ENST00000535266;ENST00000542916	T;T;T;T;T;T;T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88	3.6	1.71	0.24356	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.126644	0.52532	N	0.000067	T	0.63757	0.2538	L	0.49778	1.585	0.58432	D	0.999999	B;B;B	0.21071	0.029;0.009;0.051	B;B;B	0.24701	0.055;0.016;0.05	T	0.48779	-0.9005	10	0.13853	T	0.58	.	9.232	0.37444	0.0:0.78:0.0:0.22	.	111;73;96	B7ZAC3;Q8TDB8-2;Q8TDB8	.;.;GTR14_HUMAN	I	73;96;73;96;111;73;73;73;96;96;73	ENSP00000340450:V73I;ENSP00000440480:V96I;ENSP00000407287:V73I;ENSP00000379834:V96I;ENSP00000445929:V111I;ENSP00000440043:V73I;ENSP00000438312:V73I;ENSP00000443217:V73I;ENSP00000440044:V96I;ENSP00000437653:V96I;ENSP00000442402:V73I	ENSP00000340450:V73I	V	-	1	0	SLC2A14	7875522	0.947000	0.32204	0.339000	0.25562	0.277000	0.26821	2.122000	0.41987	-0.107000	0.12088	-0.889000	0.02933	GTC		0.493	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		7	134	0	0	0	1	0	7	134					T	7984255	C	T	7984255	3	4	433	1	0	0	0	0	1	0	0	0	14543	536	19	1	1308	1	SLC2A14	12	7984255	Missense_Mutation	SNP	C	TCGA-FY-A3R7-01A-11D-A21Z-08		7984255	125867640	16	8852											
OAS2	4939	broad.mit.edu	37	chr12	113447028	113447028	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgggactggaaacccaataCcaccttggaaagtgccggta	11	10	0	0			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr12:113447028C>A	ENST00000342315.4	+	10	2246	c.2032C>A	c.(2032-2034)Cca>Aca	p.P678T	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Missense_Mutation_p.P678T	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	678	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AAACCCAATACCACCTTGGAA	0.493																																					Pancreas(199;709 2232 18410 33584 35052)	ENST00000392583.2																			0				NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(2032-2034)Cca>Aca		2'-5'-oligoadenylate synthetase 2, 69/71kDa							212	208	209					12																	113447028		2203	4300	6503	SO:0001583	missense	0				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113447028C>A	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"2'-5'-oligoadenylate synthetase 2 (69-71 kD)"			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.2032C>A	12.37:g.113447028C>A	ENSP00000342278:p.Pro678Thr					OAS2_ENST00000342315.4_Missense_Mutation_p.P678T|RP1-71H24.1_ENST00000552784.1_RNA	p.P678T	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN			10	2239	+			678			OAS domain 2.		A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	ENST00000342315.4	37	c.2032C>A	CCDS31906.1	.	.	.	.	.	.	.	.	.	.	.	1.140	-0.649730	0.03506	.	.	ENSG00000111335	ENST00000342315;ENST00000392583	T;T	0.43294	0.95;0.95	4.39	-0.329	0.12686	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	2.511830	0.01957	N	0.043065	T	0.29850	0.0746	L	0.34521	1.04	0.09310	N	1	B;B	0.14805	0.011;0.008	B;B	0.15870	0.014;0.009	T	0.05599	-1.0875	10	0.20046	T	0.44	-23.8121	3.4208	0.07393	0.3039:0.4748:0.127:0.0942	.	678;678	P29728;P29728-2	OAS2_HUMAN;.	T	678	ENSP00000342278:P678T;ENSP00000376362:P678T	ENSP00000342278:P678T	P	+	1	0	OAS2	111931411	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.389000	0.07342	-0.130000	0.11599	-0.797000	0.03246	CCA		0.493	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1			10	356	1	0	0.0809354	1	0.0859938	10	356					A	113447028	C	A	113447028	3	1	433	1	0	0	0	0	1	0	0	0	10800	507	18	4	2141	4	OAS2	12	113447028	Missense_Mutation	SNP	C	TCGA-FY-A3R7-01A-11D-A21Z-08	105462773	113447028	20404867	17	8853											
DHX37	57647	broad.mit.edu	37	chr12	125459964	125459964	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagggaagtagagccctcaCcgctgggacagattcatctc	11	13	3	2			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr12:125459964C>T	ENST00000308736.2	-	6	1079		c.e6+1		DHX37_ENST00000544745.1_Splice_Site	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37								ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		AGAGCCCTCACCGCTGGGACA	0.652																																						ENST00000308736.2																			0				breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65						c.e6+1		DEAH (Asp-Glu-Ala-His) box polypeptide 37							86	67	74					12																	125459964		2203	4300	6503	SO:0001630	splice_region_variant	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125459964C>T	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"DEAH-boxes"	17210	protein-coding gene	gene with protein product			"DEAD/DEAH box helicase DDX37"	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.980+1G>A	12.37:g.125459964C>T						DHX37_ENST00000544745.1_Splice_Site		NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	6	1079	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)							Q9BUI7|Q9P211	Splice_Site	SNP	ENST00000308736.2	37		CCDS9261.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350648	0.82132	.	.	ENSG00000150990	ENST00000308736;ENST00000544745	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1377	0.81497	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DHX37	124025917	1.000000	0.71417	0.996000	0.52242	0.902000	0.53008	6.225000	0.72271	2.333000	0.79357	0.579000	0.79373	.		0.652	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656	Intron	7	118	0	0	0	1	0	7	118					T	125459964	C	T	125459964	5	4	433	1	0	0	0	0	0	0	1	0	4510	521	18	2	2580	2	DHX37	12	125459964	Splice_Site	SNP	C	TCGA-FY-A3R7-01A-11D-A21Z-08	12012936	125459964	8391931	18	8854											
MDGA2	161357	broad.mit.edu	37	chr14	47426730	47426730	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	taataatttattgcccaagcGccactcataggtcagcaccc	6	13	2	0			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr14:47426730G>C	ENST00000399232.2	-	9	2093	c.1729C>G	c.(1729-1731)Cgc>Ggc	p.R577G	MDGA2_ENST00000426342.1_Missense_Mutation_p.R348G|MDGA2_ENST00000439988.3_Missense_Mutation_p.R646G|MDGA2_ENST00000357362.3_Missense_Mutation_p.R348G|SNORA25_ENST00000515926.1_RNA	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	577	Ig-like 6.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTGCCCAAGCGCCACTCATAG	0.453																																						ENST00000426342.1																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(1042-1044)Cgc>Ggc		MAM domain containing glycosylphosphatidylinositol anchor 2							94	95	95					14																	47426730		1976	4158	6134	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47426730G>C	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1729C>G	14.37:g.47426730G>C	ENSP00000382178:p.Arg577Gly					MDGA2_ENST00000439988.2_Missense_Mutation_p.R577G|MDGA2_ENST00000357362.3_Missense_Mutation_p.R348G|MDGA2_ENST00000399232.2_Missense_Mutation_p.R646G	p.R348G	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN			9	1788	-			577			Ig-like 4.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.1042C>G		.	.	.	.	.	.	.	.	.	.	G	17.09	3.301563	0.60195	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	5.54	4.62	0.57501	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.50627	U	0.000105	T	0.22513	0.0543	L	0.40543	1.245	0.80722	D	1	P;P	0.38300	0.626;0.54	P;P	0.50659	0.515;0.647	T	0.00807	-1.1558	10	0.54805	T	0.06	.	14.5333	0.67942	0.0:0.0:0.8532:0.1468	.	348;577	F6W3S7;Q7Z553	.;MDGA2_HUMAN	G	577;348;646;348	ENSP00000400011:R577G;ENSP00000405456:R348G;ENSP00000382178:R646G;ENSP00000349925:R348G	ENSP00000349925:R348G	R	-	1	0	MDGA2	46496480	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.186000	0.50942	2.606000	0.88127	0.650000	0.86243	CGC		0.453	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		5	125	0	0	0	1	0	5	125					C	47426730	G	C	47426730	3	2	433	1	0	0	0	0	1	0	0	0	9407	1087	38	4	1177	4	MDGA2	14	47426730	Missense_Mutation	SNP	G	TCGA-FY-A3R7-01A-11D-A21Z-08		47426730	59922810	19	8855											
ATG2B	55102	broad.mit.edu	37	chr14	96783571	96783572	+	Frame_Shift_Ins	INS	-	-	T													ttcttgttctgagagtctaaINStttttttttcctgcgagaac							TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr14:96783571_96783572insT	ENST00000359933.4	-	20	4013_4014	c.3120_3121insA	c.(3118-3123)aaattafs	p.L1041fs		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1041					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TGAGAGTCTAATTTTTTTTTCC	0.371																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(3118-3123)aatagafs		autophagy related 2B																																				SO:0001589	frameshift_variant	55102							g.chr14:96783571_96783572insT	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.3121dupA	14.37:g.96783580_96783580dupT	ENSP00000353010:p.Leu1041fs						p.NR1040fs	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	20	4013_4014	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1040					Q6ZRE7|Q96DQ3|Q9NW80	Frame_Shift_Ins	INS	ENST00000359933.4	37	c.3120_3121insA	CCDS9944.2																																																																																				0.371	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		8	142						8	142	---	---	---	---	T	96783572	-	T	96783571	7	5	433	1	0	1	1	0	0	0	0	0	1094	98	4	0	3207	0	ATG2B	14	96783571	Frame_Shift_Ins	INS	-	TCGA-FY-A3R7-01A-11D-A21Z-08	49356841	96783571	10565969	20	8856											
C16orf80	29105	broad.mit.edu	37	chr16	58149268	58149268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttccagccgtcatccagccGcatgggcatggtgcagatga	13	12	1	2			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr16:58149268G>A	ENST00000262498.3	-	4	704	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W	CTB-134F13.1_ENST00000564672.1_RNA|C16orf80_ENST00000562443.1_5'UTR	NM_013242.2	NP_037374.1														kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						TCATCCAGCCGCATGGGCATG	0.532																																					Pancreas(103;1212 1612 18629 30162 52390)	ENST00000262498.3																			0				kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(370-372)Cgg>Tgg		chromosome 16 open reading frame 80							180	157	165					16																	58149268		2198	4300	6498	SO:0001583	missense	29105				multicellular organismal development			g.chr16:58149268G>A																												ENST00000262498.3:c.370C>T	16.37:g.58149268G>A	ENSP00000262498:p.Arg124Trp					C16orf80_ENST00000562443.1_5'UTR	p.R124W	NM_013242.2	NP_037374.1	Q9Y6A4	CP080_HUMAN			4	704	-			124						Missense_Mutation	SNP	ENST00000262498.3	37	c.370C>T	CCDS10793.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.455199	0.84209	.	.	ENSG00000070761	ENST00000262498	T	0.46063	0.88	6.17	3.11	0.35812	.	0.000000	0.85682	D	0.000000	T	0.69115	0.3075	M	0.93462	3.42	0.58432	D	0.999997	D	0.76494	0.999	P	0.62382	0.901	T	0.76870	-0.2799	10	0.66056	D	0.02	-28.4036	13.7418	0.62852	0.0:0.0:0.5736:0.4264	.	124	Q9Y6A4	CP080_HUMAN	W	124	ENSP00000262498:R124W	ENSP00000262498:R124W	R	-	1	2	C16orf80	56706769	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.698000	0.37794	0.443000	0.26582	0.655000	0.94253	CGG		0.532	C16orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257388.2			4	138	0	0	0	1	0	4	138					A	58149268	G	A	58149268	3	1	433	1	0	0	0	0	1	0	0	0	1837	1086	38	1	223	1	C16orf80	16	58149268	Missense_Mutation	SNP	G	TCGA-FY-A3R7-01A-11D-A21Z-08		58149268	32205485	21	8857											
KIAA0513	9764	broad.mit.edu	37	chr16	85100875	85100875	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcgccctcgcacccgtcctgGgaccaagaccgccgttcctc	9	20	0	1			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr16:85100875G>C	ENST00000566428.1	+	2	829	c.198G>C	c.(196-198)tgG>tgC	p.W66C	KIAA0513_ENST00000258180.3_Missense_Mutation_p.W66C|KIAA0513_ENST00000567328.1_Missense_Mutation_p.W66C|KIAA0513_ENST00000538274.1_Missense_Mutation_p.W66C			O60268	K0513_HUMAN	KIAA0513	66						cytoplasm (GO:0005737)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		ACCCGTCCTGGGACCAAGACC	0.617																																						ENST00000566428.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18						c.(196-198)tgG>tgC		KIAA0513							66	51	56					16																	85100875		2199	4300	6499	SO:0001583	missense	9764					cytoplasm		g.chr16:85100875G>C	AB011085	CCDS32499.1, CCDS67091.1, CCDS73919.1	16q24.1	2012-11-29			ENSG00000135709	ENSG00000135709			29058	protein-coding gene	gene with protein product		611675				9628581	Standard	XM_005256265		Approved		uc002fiu.3	O60268	OTTHUMG00000176597	ENST00000566428.1:c.198G>C	16.37:g.85100875G>C	ENSP00000457408:p.Trp66Cys					KIAA0513_ENST00000258180.3_Missense_Mutation_p.W66C|KIAA0513_ENST00000538274.1_Missense_Mutation_p.W66C|KIAA0513_ENST00000567328.1_Missense_Mutation_p.W66C	p.W66C			O60268	K0513_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.234)	2	829	+			66					B4DSS5|D3DUM2|Q8N6G0	Missense_Mutation	SNP	ENST00000566428.1	37	c.198G>C	CCDS32499.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.237546	0.58886	.	.	ENSG00000135709	ENST00000538274;ENST00000258180	T;T	0.35789	1.29;1.29	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.59959	0.2232	M	0.72894	2.215	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.65500	-0.6153	10	0.87932	D	0	-18.6828	16.2567	0.82522	0.0:0.0:1.0:0.0	.	66;66	B4DSS5;O60268	.;K0513_HUMAN	C	66	ENSP00000446439:W66C;ENSP00000258180:W66C	ENSP00000258180:W66C	W	+	3	0	KIAA0513	83658376	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.597000	0.67577	2.234000	0.73211	0.561000	0.74099	TGG		0.617	KIAA0513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432736.1	NM_014732		5	69	0	0	0	1	0	5	69					C	85100875	G	C	85100875	3	2	433	1	0	0	0	0	1	0	0	0	8181	1241	43	4	200	4	KIAA0513	16	85100875	Missense_Mutation	SNP	G	TCGA-FY-A3R7-01A-11D-A21Z-08	26951607	85100875	5253878	22	8858											
MYH10	4628	broad.mit.edu	37	chr17	8415820	8415822	+	In_Frame_Del	DEL	TTC	TTC	-													ttttggaggatttggtttctTtcttcttcttcttcaaccct							TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr17:8415820_8415822delTTC	ENST00000269243.4	-	22	2944_2946	c.2806_2808delGAA	c.(2806-2808)gaadel	p.E936del	RNU7-43P_ENST00000516554.1_RNA|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del|MYH10_ENST00000360416.3_In_Frame_Del_p.E967del|MYH10_ENST00000396239.1_In_Frame_Del_p.E957del	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	936					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTTGGTTTCTTTCTTCTTCTTCT	0.35																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(2899-2901)del		myosin, heavy chain 10, non-muscle																																				SO:0001651	inframe_deletion	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8415820_8415822delTTC	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.2806_2808delGAA	17.37:g.8415829_8415831delTTC	ENSP00000269243:p.Glu936del					MYH10_ENST00000269243.4_In_Frame_Del_p.E936del|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del|MYH10_ENST00000396239.1_In_Frame_Del_p.E957del	p.E967del	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			24	3037_3039	-			936					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	In_Frame_Del	DEL	ENST00000269243.4	37	c.2899_2901delGAA	CCDS11144.1																																																																																				0.35	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			8	118						8	118	---	---	---	---	-	8415822	TTC	-	8415820	7	5	433	1	0	1	0	1	0	0	0	0	10030	1838	64	0	3202	0	MYH10	17	8415820	In_Frame_Del	DEL	TTC	TCGA-FY-A3R7-01A-11D-A21Z-08		8415820	72779390	23	8859											
PPM1D	8493	broad.mit.edu	37	chr17	58740385	58740386	+	Frame_Shift_Ins	INS	-	-	A													aggatccatggccaagggtgINSaattctaaggaccatatacc							TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr17:58740385_58740386insA	ENST00000305921.3	+	6	1522_1523	c.1290_1291insA	c.(1291-1293)aatfs	p.N431fs	RNU6-623P_ENST00000363143.1_RNA	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	431					G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			GGCCAAGGGTGAATTCTAAGGA	0.401											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000305921.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15						c.(1288-1293)gtattcfs		protein phosphatase, Mg2+/Mn2+ dependent, 1D																																				SO:0001589	frameshift_variant	8493				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr17:58740385_58740386insA	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9277	protein-coding gene	gene with protein product	"wild-type p53-induced phosphatase 1", "protein phosphatase 2C, delta isoform"	605100	"protein phosphatase 1D magnesium-dependent, delta isoform"			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.1292dupA	17.37:g.58740387_58740387dupA	ENSP00000306682:p.Asn431fs		OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1033		p.F431fs	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		6	1522_1523	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		431					Q53XP4|Q6P991|Q8IVR6	Frame_Shift_Ins	INS	ENST00000305921.3	37	c.1290_1291insA	CCDS11625.1																																																																																				0.401	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620		10	211						10	211	---	---	---	---	A	58740386	-	A	58740385	7	5	433	1	0	1	1	0	0	0	0	0	12337	1277	45	0	1312	0	PPM1D	17	58740385	Frame_Shift_Ins	INS	-	TCGA-FY-A3R7-01A-11D-A21Z-08	50324565	58740385	22454825	24	8860											
ZNF610	162963	broad.mit.edu	37	chr19	52869879	52869879	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggcgcaaattatacctaacCaaccatcagagaattcatac	6	11	2	1	rs139676524		TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr19:52869879C>A	ENST00000403906.3	+	6	1704	c.1248C>A	c.(1246-1248)acC>acA	p.T416T	ZNF610_ENST00000601151.1_Silent_p.T373T|ZNF610_ENST00000321287.8_Silent_p.T416T|ZNF610_ENST00000327920.8_Silent_p.T416T	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	416					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)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		TATACCTAACCAACCATCAGA	0.423																																						ENST00000601151.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34						c.(1117-1119)acC>acA		zinc finger protein 610							61	58	59					19																	52869879		2203	4300	6503	SO:0001819	synonymous_variant	162963				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52869879C>A	AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"Zinc fingers, C2H2-type", "-"	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.1248C>A	19.37:g.52869879C>A						ZNF610_ENST00000327920.8_Silent_p.T416T|ZNF610_ENST00000321287.8_Silent_p.T416T|ZNF610_ENST00000403906.3_Silent_p.T416T	p.T373T	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)	5	1571	+			416					A8K4C3|Q86YH8|Q8NDS9	Silent	SNP	ENST00000403906.3	37	c.1119C>A	CCDS12851.1																																																																																				0.423	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530		3	86	1	0	1	1	1	3	86					A	52869879	C	A	52869879	2	1	433	1	0	0	0	0	0	0	0	1	18033	581	21	4		4	ZNF610	19	52869879	Silent	SNP	C	TCGA-FY-A3R7-01A-11D-A21Z-08		52869879	6259104	25	8861											
SHROOM2	357	broad.mit.edu	37	chrX	9841718	9841718	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggcagtaaagccgcggcGgtcgacaagttactggctgg	17	9	0	0	rs139542964		TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chrX:9841718G>A	ENST00000380913.3	+	2	282	c.192G>A	c.(190-192)gcG>gcA	p.A64A	Y_RNA_ENST00000384117.1_RNA	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	64	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				AAGCCGCGGCGGTCGACAAGT	0.537											OREG0019659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000264901	8e-04	0	3775	,	,		14710	0		0	False		,,,				2504	0					ENST00000380913.3																			0				breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57						c.(190-192)gcG>gcA		shroom family member 2		G		1,3834		0,1,1631,571	98	87	90		192	-10.5	0.0	X	dbSNP_134	90	0,6728		0,0,2428,1872	no	coding-synonymous	SHROOM2	NM_001649.2		0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095		64/1617	9841718	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9841718G>A	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"apical protein, Xenopus laevis-like", "apical protein-like (Xenopus laevis)"	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.192G>A	X.37:g.9841718G>A			OREG0019659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	660		p.A64A	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN			2	282	+		Hepatocellular(5;0.000888)	64			PDZ.		B9EIQ7	Silent	SNP	ENST00000380913.3	37	c.192G>A	CCDS14135.1																																																																																				0.537	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		6	134	0	0	0	1	0	6	134					A	9841718	G	A	9841718	2	1	433	1	0	0	0	0	0	0	0	1	14294	1103	39	1		1	SHROOM2	23	9841718	Silent	SNP	G	TCGA-FY-A3R7-01A-11D-A21Z-08		9841718	145428842	26	8862											
ATRX	546	broad.mit.edu	37	chrX	76778785	76778787	+	In_Frame_Del	DEL	TCT	TCT	-													ttctttcttcttcagtcaacTcttcttcttctttgtggtcc							TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chrX:76778785_76778787delTCT	ENST00000373344.5	-	31	7006_7008	c.6792_6794delAGA	c.(6790-6795)gaagag>gag	p.2264_2265EE>E	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_In_Frame_Del_p.2226_2227EE>E	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2264	Interaction with MECP2.|Poly-Glu.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTCAGTCAACTCTTCTTCTTCTT	0.369			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		0				bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(6790-6795)gag>ga		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001651	inframe_deletion	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76778785_76778787delTCT	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6792_6794delAGA	X.37:g.76778794_76778796delTCT	ENSP00000362441:p.Glu2265del					ATRX_ENST00000395603.3_In_Frame_Del_p.EE2226del|ATRX_ENST00000480283.1_5'UTR	p.EE2264del	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			31	7006_7008	-			2264			Poly-Glu.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	In_Frame_Del	DEL	ENST00000373344.5	37	c.6792_6794delAGA	CCDS14434.1																																																																																				0.369	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		7	479						7	479	---	---	---	---	-	76778787	TCT	-	76778785	7	5	433	1	0	1	0	1	0	0	0	0	1208	1551	54	0	704	0	ATRX	23	76778785	In_Frame_Del	DEL	TCT	TCGA-FY-A3R7-01A-11D-A21Z-08	66937067	76778785	78491775	27	8863											
MAMLD1	10046	broad.mit.edu	37	chrX	149631107	149631107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcagcccaggaagaaagCatcaggtaagcataagctta	11	8	1	2	rs372258309		TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chrX:149631107C>T	ENST00000370401.2	+	3	476	c.166C>T	c.(166-168)Cat>Tat	p.H56Y	MAMLD1_ENST00000262858.5_Missense_Mutation_p.H56Y|MAMLD1_ENST00000432680.2_Intron|MAMLD1_ENST00000426613.2_Intron|MAMLD1_ENST00000468306.1_Intron			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	56					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AGGAAGAAAGCATCAGGTAAG	0.517																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(166-168)Cat>Tat		mastermind-like domain containing 1		C	,,TYR/HIS	2,3224		0,1,1,1327,569	50	50	50		,,166	-0.3	0.0	X		50	0,6449		0,0,0,2334,1781	no	intron,intron,missense	MAMLD1	NM_001177465.1,NM_001177466.1,NM_005491.3	,,83	0,1,1,3661,2350	TT,TC,T,CC,C		0.0,0.062,0.0207	,,	,,56/775	149631107	2,9673	1898	4115	6013	SO:0001583	missense	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149631107C>T	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.166C>T	X.37:g.149631107C>T	ENSP00000359428:p.His56Tyr					MAMLD1_ENST00000468306.1_Intron|MAMLD1_ENST00000426613.2_Intron|MAMLD1_ENST00000262858.5_Missense_Mutation_p.H56Y|MAMLD1_ENST00000432680.2_Intron	p.H56Y			Q13495	MAMD1_HUMAN			3	476	+	Acute lymphoblastic leukemia(192;6.56e-05)		56					B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	c.166C>T	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	C	1.964	-0.438085	0.04636	6.2E-4	0.0	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000358892;ENST00000262858	T;T	0.57907	0.37;0.37	0.938	-0.266	0.12942	.	0.258711	0.18519	U	0.138824	T	0.24005	0.0581	N	0.08118	0	0.09310	N	1	B	0.30973	0.302	B	0.27887	0.084	T	0.10590	-1.0623	10	0.52906	T	0.07	.	2.9482	0.05853	0.0:0.5283:0.0:0.4717	.	56	Q13495	MAMD1_HUMAN	Y	18;56;56;56	ENSP00000359428:H56Y;ENSP00000262858:H56Y	ENSP00000262858:H56Y	H	+	1	0	MAMLD1	149381765	0.070000	0.21116	0.006000	0.13384	0.013000	0.08279	0.113000	0.15499	-0.147000	0.11254	0.468000	0.43344	CAT		0.517	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		9	61	0	0	0	1	0	9	61					T	149631107	C	T	149631107	3	4	433	1	0	0	0	0	1	0	0	0	9208	710	25	2	172	2	MAMLD1	23	149631107	Missense_Mutation	SNP	C	TCGA-FY-A3R7-01A-11D-A21Z-08	72852322	149631107	5639453	28	8864											
MAGEA10	4109	broad.mit.edu	37	chrX	151303906	151303908	+	In_Frame_Del	DEL	AGG	AGG	-													gcttggtattagaggatagcAggaggaggaggaggaagagg							TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chrX:151303906_151303908delAGG	ENST00000370323.4	-	4	501_503	c.185_187delCCT	c.(184-189)tcctgc>tgc	p.S62del	MAGEA10_ENST00000244096.3_In_Frame_Del_p.S62del|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	62	Poly-Ser.					nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGATAGCaggaggaggagga	0.562																																						ENST00000370323.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(184-189)tgc>t		melanoma antigen family A, 10																																				SO:0001651	inframe_deletion	4109							g.chrX:151303906_151303908delAGG		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"MAGE-10 antigen", "melanoma-associated antigen 10", "cancer/testis antigen family 1, member 10"	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.185_187delCCT	X.37:g.151303915_151303917delAGG	ENSP00000359347:p.Ser62del					MAGEA10_ENST00000244096.3_In_Frame_Del_p.SC62del|RP11-1007I13.4_ENST00000509345.2_RNA	p.SC62del	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN			4	501_503	-	Acute lymphoblastic leukemia(192;6.56e-05)		62			Poly-Ser.			In_Frame_Del	DEL	ENST00000370323.4	37	c.185_187delCCT	CCDS14705.1																																																																																				0.562	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		7	204						7	204	---	---	---	---	-	151303908	AGG	-	151303906	7	5	433	1	0	1	0	1	0	0	0	0	9164	188	7	0	926	0	MAGEA10	23	151303906	In_Frame_Del	DEL	AGG	TCGA-FY-A3R7-01A-11D-A21Z-08	1672799	151303906	3966654	29	8865											
SLC2A5	6518	broad.mit.edu	37	chr1	9117665	9117665	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcattgtaaaattgttgcatGagctaggagacaaagcaaaa	9	5	1	2			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr1:9117665G>C	ENST00000377424.4	-	3	314	c.135C>G	c.(133-135)ctC>ctG	p.L45L	SLC2A5_ENST00000377414.3_Silent_p.L45L|SLC2A5_ENST00000535586.1_Intron	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	45					carbohydrate metabolic process (GO:0005975)|cellular response to fructose stimulus (GO:0071332)|fructose transport (GO:0015755)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fructose transmembrane transporter activity (GO:0005353)|glucose transmembrane transporter activity (GO:0005355)			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		ATTGTTGCATGAGCTAGGAGA	0.423																																						ENST00000377424.4																			0				endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36						c.(133-135)ctC>ctG		solute carrier family 2 (facilitated glucose/fructose transporter), member 5							80	69	73					1																	9117665		2203	4300	6503	SO:0001819	synonymous_variant	6518				carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity	g.chr1:9117665G>C	BC001820	CCDS99.1, CCDS44054.1	1p36.2	2013-05-22			ENSG00000142583	ENSG00000142583		"Solute carriers"	11010	protein-coding gene	gene with protein product		138230		GLUT5		9691177	Standard	NM_003039		Approved		uc001apo.3	P22732	OTTHUMG00000001771	ENST00000377424.4:c.135C>G	1.37:g.9117665G>C						SLC2A5_ENST00000535586.1_Intron|SLC2A5_ENST00000377414.3_Silent_p.L45L	p.L45L	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	3	314	-	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	45					Q14770|Q5T977|Q8IVB3	Silent	SNP	ENST00000377424.4	37	c.135C>G	CCDS99.1																																																																																				0.423	SLC2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004932.1	NM_003039		13	16	0	0	0	1	0	13	16					C	9117665	G	C	9117665	2	2	434	1	0	0	0	0	0	0	0	1	14548	1277	45	4		4	SLC2A5	1	9117665	Silent	SNP	G	TCGA-FY-A3R8-01A-11D-A21Z-08		9117665	240132956	1	8866											
AKR7L	246181	broad.mit.edu	37	chr1	19597040	19597040	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttggagaggccaagctccaCgaacttgccctgctcgggtg	14	12	0	1			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr1:19597040C>T	ENST00000429712.1	-	0	531				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CCAAGCTCCACGAACTTGCCC	0.617																																						ENST00000420396.2																			0				breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6								aldo-keto reductase family 7-like																																						246181							g.chr1:19597040C>T			1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19597040C>T						AKR7L_ENST00000429712.1_RNA								0	411	-								Q5U614	RNA	SNP	ENST00000429712.1	37			.	.	.	.	.	.	.	.	.	.	C	4.613	0.113921	0.08831	.	.	ENSG00000211454	ENST00000429712	.	.	.	4.19	2.28	0.28536	NADP-dependent oxidoreductase domain (3);	0.240515	0.40640	N	0.001046	T	0.36496	0.0969	.	.	.	0.80722	D	1	B	0.27853	0.191	B	0.24974	0.057	T	0.14924	-1.0455	8	0.45353	T	0.12	.	3.7801	0.08677	0.0:0.5287:0.1895:0.2817	.	138	Q8NHP1	ARK74_HUMAN	M	138	.	ENSP00000411913:V138M	V	-	1	0	AKR7L	19469627	1.000000	0.71417	0.959000	0.39883	0.066000	0.16364	2.798000	0.47884	0.522000	0.28464	-0.259000	0.10710	GTG		0.617	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		3	40	0	0	0	1	0	3	40					T	19597040	C	T	19597040	1	4	434	0	1	0	0	0	0	0	0	0	477	536	19	1		1	AKR7L	1	19597040	RNA	SNP	C	TCGA-FY-A3R8-01A-11D-A21Z-08	10479375	19597040	229653581	2	8867											
FLG	2312	broad.mit.edu	37	chr1	152285714	152285714	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcagaccttccctgggatgTggtgtggctgtgatgggaac	15	8	1	2			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr1:152285714T>C	ENST00000368799.1	-	3	1683	c.1648A>G	c.(1648-1650)Aca>Gca	p.T550A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	550	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTGGGATGTGGTGTGGCTG	0.567									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(1648-1650)Aca>Gca		filaggrin							385	374	378					1																	152285714		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152285714T>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1648A>G	1.37:g.152285714T>C	ENSP00000357789:p.Thr550Ala					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.T550A	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1683	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		550			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.1648A>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	7.964	0.747657	0.15710	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.00840	5.63	2.02	-4.04	0.04010	.	.	.	.	.	T	0.00468	0.0015	M	0.75447	2.3	0.09310	N	1	B	0.28820	0.224	B	0.39379	0.298	T	0.42649	-0.9439	9	0.09084	T	0.74	.	3.8193	0.08828	0.5981:0.2379:0.0:0.164	.	550	P20930	FILA_HUMAN	A	550;82	ENSP00000357789:T550A	ENSP00000357789:T550A	T	-	1	0	FLG	150552338	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.065000	0.03458	-0.875000	0.04022	-0.449000	0.05564	ACA		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		56	315	0	0	0	1	0	56	315					C	152285714	T	C	152285714	3	2	434	1	0	0	0	0	1	0	0	0	5922	1696	59	3	10541	3	FLG	1	152285714	Missense_Mutation	SNP	T	TCGA-FY-A3R8-01A-11D-A21Z-08	132688674	152285714	96964907	3	8868											
PAQR6	79957	broad.mit.edu	37	chr1	156215632	156215632	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcagatgtggcgcatgcggGgcgacatggagctgaaggtg	19	7	0	2			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr1:156215632G>T	ENST00000292291.5	-	4	484	c.326C>A	c.(325-327)cCc>cAc	p.P109H	PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000335852.1_Missense_Mutation_p.P3H|PAQR6_ENST00000356983.2_Missense_Mutation_p.P3H|PAQR6_ENST00000540423.1_Missense_Mutation_p.P106H|PAQR6_ENST00000368270.1_Missense_Mutation_p.P85H	NM_001272104.1|NM_001272105.1|NM_198406.2	NP_001259033.1|NP_001259034.1|NP_940798.1	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	109						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					GCGCATGCGGGGCGACATGGA	0.697																																					GBM(16;219 398 12385 32425 38531)	ENST00000335852.1																			0				lung(4)|ovary(1)	5						c.(7-9)cCc>cAc		progestin and adipoQ receptor family member VI							24	23	23					1																	156215632		2197	4290	6487	SO:0001583	missense	79957					integral to membrane	receptor activity	g.chr1:156215632G>T	AF455045	CCDS1135.1, CCDS1136.1, CCDS60301.1, CCDS72945.1, CCDS72946.1	1q23	2008-02-05			ENSG00000160781	ENSG00000160781			30132	protein-coding gene	gene with protein product		614579				12477932	Standard	NM_024897		Approved	FLJ22672	uc010phh.2	Q6TCH4	OTTHUMG00000017490	ENST00000292291.5:c.326C>A	1.37:g.156215632G>T	ENSP00000292291:p.Pro109His					PAQR6_ENST00000360733.2_Missense_Mutation_p.P3H|PAQR6_ENST00000540423.1_Missense_Mutation_p.P106H|PAQR6_ENST00000292291.5_Missense_Mutation_p.P109H|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000368270.1_Missense_Mutation_p.P85H|PAQR6_ENST00000356983.2_Missense_Mutation_p.P3H	p.P3H	NM_024897.2	NP_079173.2	Q6TCH4	PAQR6_HUMAN			3	623	-	Hepatocellular(266;0.158)		109					B7Z9R9|D3DVB4|D3DVB6|Q5TCK9|Q6PDU0|Q7Z4Q7|Q7Z4Q9|Q8N121|Q8N3M2|Q9H621	Missense_Mutation	SNP	ENST00000292291.5	37	c.8C>A	CCDS1136.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.714662	0.48622	.	.	ENSG00000160781	ENST00000292291;ENST00000360733;ENST00000335852;ENST00000356983;ENST00000368270;ENST00000540423	T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59	4.43	4.43	0.53597	.	.	.	.	.	T	0.22044	0.0531	L	0.57536	1.79	0.38823	D	0.955682	B;P;B	0.40909	0.066;0.732;0.066	B;B;B	0.40901	0.061;0.343;0.061	T	0.04840	-1.0923	9	0.45353	T	0.12	-4.0971	14.5509	0.68065	0.0:0.0:1.0:0.0	.	106;3;109	B7Z9R9;Q6TCH4-2;Q6TCH4	.;.;PAQR6_HUMAN	H	109;3;3;3;85;106	ENSP00000292291:P109H;ENSP00000353961:P3H;ENSP00000338330:P3H;ENSP00000349474:P3H;ENSP00000357253:P85H;ENSP00000443167:P106H	ENSP00000292291:P109H	P	-	2	0	PAQR6	154482256	0.747000	0.28283	1.000000	0.80357	0.988000	0.76386	3.736000	0.55052	2.266000	0.75297	0.462000	0.41574	CCC		0.697	PAQR6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046297.2	NM_024897		3	7	1	0	0.004672	1	0.00486667	3	7					T	156215632	G	T	156215632	3	4	434	1	0	0	0	0	1	0	0	0	11439	1232	43	4	1067	4	PAQR6	1	156215632	Missense_Mutation	SNP	G	TCGA-FY-A3R8-01A-11D-A21Z-08	3929918	156215632	93034989	4	8869											
ITIH1	3697	broad.mit.edu	37	chr3	52820397	52820397	+	Frame_Shift_Del	DEL	C	C	-													cgtggccacatgctggagaaCcacgtcgagcgcctctgggc							TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr3:52820397delC	ENST00000273283.2	+	13	1704	c.1680delC	c.(1678-1680)aacfs	p.N560fs	ITIH1_ENST00000542827.1_Frame_Shift_Del_p.N560fs|ITIH1_ENST00000540715.1_Frame_Shift_Del_p.N418fs|ITIH1_ENST00000405128.3_5'Flank|ITIH1_ENST00000537050.1_Frame_Shift_Del_p.N272fs	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	560	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TGCTGGAGAACCACGTCGAGC	0.602																																						ENST00000273283.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(1678-1680)aafs		inter-alpha-trypsin inhibitor heavy chain 1			,,,	0,4262		0,0,2131	50	39	43		,,,	5.5	1.0	3		43	2,8246		0,2,4122	no	frameshift,frameshift,frameshift,frameshift	ITIH1	NM_002215.2,NM_001166436.1,NM_001166435.1,NM_001166434.1	,,,	0,2,6253	A1A1,A1R,RR		0.0242,0.0,0.016	,,,	,,,	52820397	2,12508	2203	4297	6500	SO:0001589	frameshift_variant	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52820397delC		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"inter-alpha (globulin) inhibitor, H1 polypeptide"			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.1680delC	3.37:g.52820397delC	ENSP00000273283:p.Asn560fs					ITIH1_ENST00000542827.1_Frame_Shift_Del_p.N560fs|ITIH1_ENST00000540715.1_Frame_Shift_Del_p.N418fs|ITIH1_ENST00000537050.1_Frame_Shift_Del_p.N272fs	p.N560fs	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	13	1704	+			560			Hyaluronan-binding.		A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Frame_Shift_Del	DEL	ENST00000273283.2	37	c.1680delC	CCDS2864.1																																																																																				0.602	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		4	2						4	2	---	---	---	---	-	52820397	C	-	52820397	7	5	434	1	0	1	0	1	0	0	0	0	7903	506	18	0	1730	0	ITIH1	3	52820397	Frame_Shift_Del	DEL	C	TCGA-FY-A3R8-01A-11D-A21Z-08		52820397	145202033	5	8870											
RYK	6259	broad.mit.edu	37	chr3	133894572	133894572	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggggaacaagtctctggagaGggcattgtctgtgatcttaa	14	6	3	2			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr3:133894572G>C	ENST00000427044.2	-	14	1499	c.889C>G	c.(889-891)Ctc>Gtc	p.L297V	RYK_ENST00000296084.4_Missense_Mutation_p.L487V			P34925	RYK_HUMAN	receptor-like tyrosine kinase	483					axon guidance (GO:0007411)|corpus callosum development (GO:0022038)|neuron differentiation (GO:0030182)|neuron projection development (GO:0031175)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of MAPK cascade (GO:0043410)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			lung(1)|ovary(3)	4						TCTCTGGAGAGGGCATTGTCT	0.408																																						ENST00000427044.2																			0				lung(1)|ovary(3)	4						c.(889-891)Ctc>Gtc		receptor-like tyrosine kinase							122	117	118					3																	133894572		1902	4135	6037	SO:0001583	missense	6259				corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr3:133894572G>C	S59184	CCDS75016.1	3q22.1	2012-02-28	2012-02-28		ENSG00000163785	ENSG00000163785	2.7.10.1		10481	protein-coding gene	gene with protein product		600524	"JTK5A protein tyrosine kinase", "RYK receptor-like tyrosine kinase"	JTK5A		8386829	Standard	NM_001005861		Approved	D3S3195, RYK1, JTK5	uc003eqc.1	P34925	OTTHUMG00000159750	ENST00000427044.2:c.889C>G	3.37:g.133894572G>C	ENSP00000399527:p.Leu297Val					RYK_ENST00000296084.4_Missense_Mutation_p.L487V	p.L297V			P34925	RYK_HUMAN			14	1499	-			483					Q04696	Missense_Mutation	SNP	ENST00000427044.2	37	c.889C>G		.	.	.	.	.	.	.	.	.	.	G	20.6	4.019720	0.75275	.	.	ENSG00000163785	ENST00000296084;ENST00000427044	D;D	0.90732	-2.72;-2.72	5.72	3.92	0.45320	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.059741	0.64402	D	0.000001	D	0.91362	0.7275	M	0.89601	3.045	0.80722	D	1	B;B	0.29531	0.247;0.208	B;B	0.30105	0.111;0.067	D	0.91034	0.4866	10	0.87932	D	0	-4.6972	10.5081	0.44845	0.0686:0.0:0.7967:0.1346	.	483;486	P34925;P34925-2	RYK_HUMAN;.	V	487;297	ENSP00000296084:L487V;ENSP00000399527:L297V	ENSP00000296084:L487V	L	-	1	0	RYK	135377262	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.401000	0.73256	1.423000	0.47198	0.655000	0.94253	CTC		0.408	RYK-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001005861		10	60	0	0	0	1	0	10	60					C	133894572	G	C	133894572	3	2	434	1	0	0	0	0	1	0	0	0	13767	1000	35	4	379	4	RYK	3	133894572	Missense_Mutation	SNP	G	TCGA-FY-A3R8-01A-11D-A21Z-08	81074175	133894572	64127858	6	8871											
CORIN	10699	broad.mit.edu	37	chr4	47644047	47644047	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atcagaaaggaagaggagttCacatttatagagagggtcac	12	5	3	3			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr4:47644047C>A	ENST00000273857.4	-	16	2087	c.2088G>T	c.(2086-2088)gtG>gtT	p.V696V	CORIN_ENST00000505909.1_Silent_p.V659V|CORIN_ENST00000508498.1_Silent_p.V557V|CORIN_ENST00000502252.1_Silent_p.V629V	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	696	SRCR.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AAGAGGAGTTCACATTTATAG	0.448																																						ENST00000273857.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						c.(2086-2088)gtG>gtT		corin, serine peptidase							78	76	77					4																	47644047		2203	4300	6503	SO:0001819	synonymous_variant	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47644047C>A	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"Serine peptidases / Transmembrane"	19012	protein-coding gene	gene with protein product		605236	"corin, serine protease"			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.2088G>T	4.37:g.47644047C>A						CORIN_ENST00000502252.1_Silent_p.V629V|CORIN_ENST00000505909.1_Silent_p.V659V|CORIN_ENST00000508498.1_Silent_p.V557V	p.V696V	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN			16	2087	-			696			SRCR.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Silent	SNP	ENST00000273857.4	37	c.2088G>T	CCDS3477.1																																																																																				0.448	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			9	31	1	0	2.80697e-09	1	3.18974e-09	9	31					A	47644047	C	A	47644047	2	1	434	1	0	0	0	0	0	0	0	1	3752	813	29	4		4	CORIN	4	47644047	Silent	SNP	C	TCGA-FY-A3R8-01A-11D-A21Z-08		47644047	143510229	7	8872											
BMP3	651	broad.mit.edu	37	chr4	81967362	81967362	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcaagcttacagggacacCggaattttcccactggaact	8	11	1	0	rs200302858		TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr4:81967362C>T	ENST00000282701.2	+	2	1107	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	263					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						ACAGGGACACCGGAATTTTCC	0.498																																						ENST00000282701.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(787-789)Cgg>Tgg		bone morphogenetic protein 3							86	88	87					4																	81967362		2203	4300	6503	SO:0001583	missense	651				cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr4:81967362C>T	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"Bone morphogenetic proteins"	1070	protein-coding gene	gene with protein product	"osteogenin"	112263	"bone morphogenetic protein 3 (osteogenic)"				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.787C>T	4.37:g.81967362C>T	ENSP00000282701:p.Arg263Trp						p.R263W	NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN			2	1107	+			263					Q4VAS5	Missense_Mutation	SNP	ENST00000282701.2	37	c.787C>T	CCDS3588.1	.	.	.	.	.	.	.	.	.	.	C	6.120	0.390416	0.11581	.	.	ENSG00000152785	ENST00000282701	T	0.74315	-0.83	5.27	3.52	0.40303	.	1.195350	0.05373	N	0.535747	T	0.66587	0.2804	L	0.31294	0.92	0.09310	N	1	B	0.23591	0.088	B	0.08055	0.003	T	0.56288	-0.8004	10	0.59425	D	0.04	.	12.2271	0.54465	0.0:0.8516:0.0:0.1484	.	263	P12645	BMP3_HUMAN	W	263	ENSP00000282701:R263W	ENSP00000282701:R263W	R	+	1	2	BMP3	82186386	0.001000	0.12720	0.079000	0.20413	0.002000	0.02628	0.397000	0.20883	1.372000	0.46190	0.655000	0.94253	CGG		0.498	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			4	59	0	0	0	1	0	4	59					T	81967362	C	T	81967362	3	4	434	1	0	0	0	0	1	0	0	0	1461	643	23	1	793	1	BMP3	4	81967362	Missense_Mutation	SNP	C	TCGA-FY-A3R8-01A-11D-A21Z-08	34323315	81967362	109186914	8	8873											
ADAMTS16	170690	broad.mit.edu	37	chr5	5239340	5239340	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgtaacgggaataactcagCctgcacgattcacaggggtc	12	10	2	0			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr5:5239340C>A	ENST00000274181.7	+	15	2369	c.2231C>A	c.(2230-2232)gCc>gAc	p.A744D		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	744	Cys-rich.				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						AATAACTCAGCCTGCACGATT	0.522																																						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.(2230-2232)gCc>gAc		ADAM metallopeptidase with thrombospondin type 1 motif, 16							235	231	233					5																	5239340		2065	4216	6281	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5239340C>A	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.2231C>A	5.37:g.5239340C>A	ENSP00000274181:p.Ala744Asp						p.A744D	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			15	2369	+			744			Cys-rich.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.2231C>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.183814	0.38609	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.68479	-0.33	5.85	-3.05	0.05396	.	0.580480	0.16341	N	0.218690	T	0.35364	0.0929	N	0.02830	-0.485	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.21075	-1.0256	10	0.39692	T	0.17	.	9.2943	0.37806	0.1685:0.4796:0.3519:0.0	.	744;744	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	D	744	ENSP00000274181:A744D	ENSP00000274181:A744D	A	+	2	0	ADAMTS16	5292340	0.022000	0.18835	0.011000	0.14972	0.971000	0.66376	0.513000	0.22770	-0.438000	0.07232	-0.274000	0.10170	GCC		0.522	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		23	83	1	0	2.50493e-22	1	3.13116e-22	23	83					A	5239340	C	A	5239340	3	1	434	1	0	0	0	0	1	0	0	0	261	739	26	4	2289	4	ADAMTS16	5	5239340	Missense_Mutation	SNP	C	TCGA-FY-A3R8-01A-11D-A21Z-08		5239340	175675920	9	8874											
MRAP2	112609	broad.mit.edu	37	chr6	84799015	84799015	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgacagtgacgtccaactcCaggaagccatcagaagcagt	10	11	1	3			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr6:84799015C>T	ENST00000257776.4	+	4	568	c.433C>T	c.(433-435)Cag>Tag	p.Q145*		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	145					energy homeostasis (GO:0097009)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|positive regulation of cAMP biosynthetic process (GO:0030819)|protein localization to cell surface (GO:0034394)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	corticotropin hormone receptor binding (GO:0031780)|identical protein binding (GO:0042802)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)|type 5 melanocortin receptor binding (GO:0031783)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						CGTCCAACTCCAGGAAGCCAT	0.522																																						ENST00000257776.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(433-435)Cag>Tag		melanocortin 2 receptor accessory protein 2							113	106	108					6																	84799015		2203	4300	6503	SO:0001587	stop_gained	112609				positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding	g.chr6:84799015C>T	AK090775	CCDS5001.1	6q14.3	2009-10-06	2008-07-16	2008-07-16	ENSG00000135324	ENSG00000135324			21232	protein-coding gene	gene with protein product		615410	"chromosome 6 open reading frame 117"	C6orf117			Standard	NM_138409		Approved	bA51G5.2	uc003pkg.4	Q96G30	OTTHUMG00000015121	ENST00000257776.4:c.433C>T	6.37:g.84799015C>T	ENSP00000257776:p.Gln145*						p.Q145*	NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN			4	568	+			145					A8K9M1|Q8IXM9|Q8N2D1	Nonsense_Mutation	SNP	ENST00000257776.4	37	c.433C>T	CCDS5001.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229615	0.58777	.	.	ENSG00000135324	ENST00000257776	.	.	.	5.18	5.18	0.71444	.	0.282103	0.35936	N	0.002900	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-6.9859	19.0609	0.93093	0.0:1.0:0.0:0.0	.	.	.	.	X	145	.	ENSP00000257776:Q145X	Q	+	1	0	MRAP2	84855734	1.000000	0.71417	0.996000	0.52242	0.148000	0.21650	5.723000	0.68492	2.589000	0.87451	0.655000	0.94253	CAG		0.522	MRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041367.1	NM_138409		25	25	0	0	0	1	0	25	25					T	84799015	C	T	84799015	4	4	434	1	0	0	0	0	0	1	0	0	9754	595	21	2	443	2	MRAP2	6	84799015	Nonsense_Mutation	SNP	C	TCGA-FY-A3R8-01A-11D-A21Z-08		84799015	86316052	10	8875											
SOBP	55084	broad.mit.edu	37	chr6	107854783	107854784	+	Frame_Shift_Ins	INS	-	-	CTGCCGA													agcgagaagtgctttgcggcINSctgccgacgagcctacttca					rs369817943		TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr6:107854783_107854784insCTGCCGA	ENST00000317357.5	+	4	1201_1202	c.542_543insCTGCCGA	c.(541-546)gcctgcfs	p.-182fs		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		TGCTTTGCGGCCTGCCGACGAG	0.559																																						ENST00000317357.5																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(541-543)gtgfs		sine oculis binding protein homolog (Drosophila)																																				SO:0001589	frameshift_variant	55084						metal ion binding	g.chr6:107854783_107854784insCTGCCGA	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.543_549dupCTGCCGA	6.37:g.107854784_107854790dupCTGCCGA	ENSP00000318900:p.Cys182fs						p.V181fs	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	4	1201_1202	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	181						Frame_Shift_Ins	INS	ENST00000317357.5	37	c.542_543insCTGCCGA	CCDS43488.1																																																																																				0.559	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		15	90						15	90	---	---	---	---	CTGCCGA	107854784	-	CTGCCGA	107854783	7	5	434	1	0	1	1	0	0	0	0	0	14912	739	26	0	556	0	SOBP	6	107854783	Frame_Shift_Ins	INS	-	TCGA-FY-A3R8-01A-11D-A21Z-08	23055768	107854783	63260284	11	8876											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		24	53	0	0	0	1	0	24	53					T	140453136	A	T	140453136	3	4	434	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FY-A3R8-01A-11D-A21Z-08		140453136	18685527	12	8877											
COL22A1	169044	broad.mit.edu	37	chr8	139662001	139662001	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaggcctggggggccaggAgggcagtcattgcacacatc	18	10	1	0			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr8:139662001A>G	ENST00000303045.6	-	46	3800	c.3354T>C	c.(3352-3354)ccT>ccC	p.P1118P	COL22A1_ENST00000435777.1_Silent_p.P1098P|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1118	Collagen-like 10.|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)			GGGGGCCAGGAGGGCAGTCAT	0.527										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.(3352-3354)ccT>ccC		collagen, type XXII, alpha 1							55	52	53					8																	139662001		2202	4300	6502	SO:0001819	synonymous_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139662001A>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.3354T>C	8.37:g.139662001A>G		HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Silent_p.P1098P|COL22A1_ENST00000341807.4_5'UTR	p.P1118P	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		46	3800	-	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)		1118			Collagen-like 10.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	c.3354T>C	CCDS6376.1																																																																																				0.527	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		5	29	0	0	0	1	0	5	29					G	139662001	A	G	139662001	2	3	434	1	0	0	0	0	0	0	0	1	3681	291	11	3		3	COL22A1	8	139662001	Silent	SNP	A	TCGA-FY-A3R8-01A-11D-A21Z-08		139662001	6702021	13	8878											
ZNF488	118738	broad.mit.edu	37	chr10	48371510	48371510	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cctgtgtgccaggagcacttCcgggagcgccaccacctctc	11	17	1	0	rs181686195		TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr10:48371510C>G	ENST00000395702.2	+	2	1205	c.978C>G	c.(976-978)ttC>ttG	p.F326L	ZNF488_ENST00000494156.1_3'UTR|ZNF488_ENST00000586537.1_Missense_Mutation_p.F219L			Q96MN9	ZN488_HUMAN	zinc finger protein 488	326					negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte development (GO:0014003)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						AGGAGCACTTCCGGGAGCGCC	0.622																																						ENST00000395702.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						c.(976-978)ttC>ttG		zinc finger protein 488							76	78	77					10																	48371510		2203	4300	6503	SO:0001583	missense	118738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:48371510C>G	AK056666	CCDS73120.1	10q11.22	2014-04-10			ENSG00000165388	ENSG00000265763		"Zinc fingers, C2H2-type"	23535	protein-coding gene	gene with protein product							Standard	NM_153034		Approved	FLJ32104	uc001jex.3	Q96MN9	OTTHUMG00000188322	ENST00000395702.2:c.978C>G	10.37:g.48371510C>G	ENSP00000379054:p.Phe326Leu					ZNF488_ENST00000586537.1_Missense_Mutation_p.F219L|ZNF488_ENST00000494156.1_3'UTR	p.F326L			Q96MN9	ZN488_HUMAN			2	1205	+			326					Q05CE0	Missense_Mutation	SNP	ENST00000395702.2	37	c.978C>G	CCDS7217.1	.	.	.	.	.	.	.	.	.	.	C	32	5.181265	0.94846	.	.	ENSG00000165388	ENST00000395702	T	0.42131	0.98	5.39	5.39	0.77823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	U	0.000000	T	0.68311	0.2987	M	0.80847	2.515	0.43321	D	0.995343	D	0.89917	1.0	D	0.91635	0.999	T	0.72157	-0.4375	10	0.87932	D	0	.	18.4968	0.90867	0.0:1.0:0.0:0.0	.	326	Q96MN9	ZN488_HUMAN	L	326	ENSP00000379054:F326L	ENSP00000379054:F326L	F	+	3	2	ZNF488	47991516	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	1.834000	0.39171	2.682000	0.91365	0.655000	0.94253	TTC		0.622	ZNF488-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314632.1	NM_153034		14	71	0	0	0	1	0	14	71					G	48371510	C	G	48371510	3	3	434	1	0	0	0	0	1	0	0	0	17937	854	30	4	980	4	ZNF488	10	48371510	Missense_Mutation	SNP	C	TCGA-FY-A3R8-01A-11D-A21Z-08		48371510	87163237	14	8879											
PIK3AP1	118788	broad.mit.edu	37	chr10	98416610	98416610	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttcccaggtgaagtcaccGtcggcaggttctgctgcttc	13	12	2	1	rs567912958	byFrequency	TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr10:98416610G>A	ENST00000339364.5	-	3	631	c.512C>T	c.(511-513)aCg>aTg	p.T171M	PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_De_novo_Start_InFrame	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	171					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TGAAGTCACCGTCGGCAGGTT	0.577													G|||	3	0.000599042	0	0	5008	,	,		19160	0		0	False		,,,				2504	0.0031					ENST00000339364.5																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52						c.(511-513)aCg>aTg		phosphoinositide-3-kinase adaptor protein 1							129	102	111					10																	98416610		2203	4300	6503	SO:0001583	missense	118788					cytoplasm|plasma membrane		g.chr10:98416610G>A	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.512C>T	10.37:g.98416610G>A	ENSP00000339826:p.Thr171Met					PIK3AP1_ENST00000371110.2_De_novo_Start_InFrame|PIK3AP1_ENST00000468783.1_5'UTR	p.T171M	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	3	631	-		Colorectal(252;0.0442)	171					Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	ENST00000339364.5	37	c.512C>T	CCDS31259.1	.	.	.	.	.	.	.	.	.	.	G	5.199	0.222255	0.09863	.	.	ENSG00000155629	ENST00000339364	T	0.10477	2.87	5.01	-5.11	0.02901	.	1.960350	0.01993	N	0.045656	T	0.05227	0.0139	N	0.14661	0.345	0.09310	N	1	P	0.39181	0.663	B	0.27500	0.08	T	0.32613	-0.9900	10	0.51188	T	0.08	5.1967	7.3951	0.26931	0.5281:0.0:0.3624:0.1095	.	171	Q6ZUJ8	BCAP_HUMAN	M	171	ENSP00000339826:T171M	ENSP00000339826:T171M	T	-	2	0	PIK3AP1	98406600	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-2.003000	0.01463	-1.065000	0.03168	0.561000	0.74099	ACG		0.577	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		4	63	0	0	0	1	0	4	63					A	98416610	G	A	98416610	3	1	434	1	0	0	0	0	1	0	0	0	11908	1145	40	1	1965	1	PIK3AP1	10	98416610	Missense_Mutation	SNP	G	TCGA-FY-A3R8-01A-11D-A21Z-08	50045100	98416610	37118137	15	8880											
DCLRE1A	9937	broad.mit.edu	37	chr10	115595057	115595057	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttctaggtagctgctgtgttCactgtaaggaattcctgtaa	10	7	2	0			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr10:115595057C>T	ENST00000361384.2	-	9	3894	c.2977G>A	c.(2977-2979)Gaa>Aaa	p.E993K	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.E993K	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	993					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		CTGCTGTGTTCACTGTAAGGA	0.353								Other identified genes with known or suspected DNA repair function																														ENST00000361384.2																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(2977-2979)Gaa>Aaa	Other identified genes with known or suspected DNA repair function	DNA cross-link repair 1A							82	77	79					10																	115595057		2203	4300	6503	SO:0001583	missense	9937				cell division|mitosis	nucleus	hydrolase activity	g.chr10:115595057C>T		CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"PSO2 homolog (S. cerevisiae)"	609682	"DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.2977G>A	10.37:g.115595057C>T	ENSP00000355185:p.Glu993Lys					DCLRE1A_ENST00000369305.1_Missense_Mutation_p.E993K	p.E993K	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN		Epithelial(162;0.0157)|all cancers(201;0.0171)	9	3894	-			993					D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	ENST00000361384.2	37	c.2977G>A	CCDS7584.1	.	.	.	.	.	.	.	.	.	.	C	34	5.379252	0.95945	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	T;T	0.74421	-0.84;-0.84	5.32	5.32	0.75619	DNA repair metallo-beta-lactamase (1);	0.000000	0.85682	D	0.000000	D	0.90501	0.7024	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93032	0.6449	10	0.87932	D	0	-28.9227	17.5439	0.87856	0.0:1.0:0.0:0.0	.	993	Q6PJP8	DCR1A_HUMAN	K	993	ENSP00000355185:E993K;ENSP00000358311:E993K	ENSP00000355185:E993K	E	-	1	0	DCLRE1A	115585047	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.389000	0.79806	2.648000	0.89879	0.655000	0.94253	GAA		0.353	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881		6	34	0	0	0	1	0	6	34					T	115595057	C	T	115595057	3	4	434	1	0	0	0	0	1	0	0	0	4294	835	29	2	149	2	DCLRE1A	10	115595057	Missense_Mutation	SNP	C	TCGA-FY-A3R8-01A-11D-A21Z-08	17178447	115595057	19939690	16	8881											
LGR4	55366	broad.mit.edu	37	chr11	27390293	27390293	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcagcaacccggaactgtttGagatgattgctcttcccatt	9	11	1	2			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr11:27390293G>A	ENST00000379214.4	-	18	2420	c.1977C>T	c.(1975-1977)ctC>ctT	p.L659L	LGR4_ENST00000389858.4_Silent_p.L635L	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	659					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						GGAACTGTTTGAGATGATTGC	0.413																																						ENST00000379214.4																			0				NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						c.(1975-1977)ctC>ctT		leucine-rich repeat containing G protein-coupled receptor 4							91	87	88					11																	27390293		2202	4299	6501	SO:0001819	synonymous_variant	55366					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr11:27390293G>A	AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"GPCR / Class A : Orphans"	13299	protein-coding gene	gene with protein product		606666	"G protein-coupled receptor 48", "leucine-rich repeat-containing G protein-coupled receptor 4"	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.1977C>T	11.37:g.27390293G>A						LGR4_ENST00000389858.4_Silent_p.L635L	p.L659L	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN			18	2420	-			659					A6NCH3|G5E9B3|Q8N537|Q9NYD1	Silent	SNP	ENST00000379214.4	37	c.1977C>T	CCDS31449.1																																																																																				0.413	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490		13	62	0	0	0	1	0	13	62					A	27390293	G	A	27390293	2	1	434	1	0	0	0	0	0	0	0	1	8756	1277	45	2		2	LGR4	11	27390293	Silent	SNP	G	TCGA-FY-A3R8-01A-11D-A21Z-08		27390293	107616223	17	8882											
OPCML	4978	broad.mit.edu	37	chr11	132812836	132812836	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctacctgagggtggcgctcTccccctgccggaccgtcacg	12	18	2	1			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr11:132812836T>C	ENST00000331898.7	-	1	730	c.152A>G	c.(151-153)gAg>gGg	p.E51G	OPCML_ENST00000524381.1_Missense_Mutation_p.E44G|OPCML_ENST00000541867.1_Missense_Mutation_p.E51G|OPCML_ENST00000529038.1_Intron|OPCML_ENST00000374778.4_Missense_Mutation_p.E10G	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	51	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GGTGGCGCTCTCCCCCTGCCG	0.667																																						ENST00000331898.7																			0				endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47						c.(151-153)gAg>gGg		opioid binding protein/cell adhesion molecule-like							67	69	68					11																	132812836		2201	4297	6498	SO:0001583	missense	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132812836T>C	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"Immunoglobulin superfamily / I-set domain containing"	8143	protein-coding gene	gene with protein product	"IgLON family member 1"	600632	"opioid-binding protein/cell adhesion molecule-like"			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.152A>G	11.37:g.132812836T>C	ENSP00000330862:p.Glu51Gly					OPCML_ENST00000524381.1_Missense_Mutation_p.E44G|OPCML_ENST00000529038.1_Intron|OPCML_ENST00000374778.4_Missense_Mutation_p.E10G|OPCML_ENST00000541867.1_Missense_Mutation_p.E51G	p.E51G	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	1	730	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)	51			Ig-like C2-type 1.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	c.152A>G	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.744568	0.89663	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.71	5.71	0.89125	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.070344	0.56097	D	0.000038	T	0.35008	0.0917	L	0.38531	1.155	0.50813	D	0.999891	P;P;P;P	0.41569	0.607;0.755;0.607;0.607	P;P;P;P	0.46208	0.507;0.507;0.507;0.507	T	0.12785	-1.0534	10	0.87932	D	0	-17.2912	15.9822	0.80121	0.0:0.0:0.0:1.0	.	51;44;51;51	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	G	51;44;10;44;51	ENSP00000330862:E51G;ENSP00000434750:E44G;ENSP00000363910:E10G;ENSP00000445496:E51G	ENSP00000330862:E51G	E	-	2	0	OPCML	132318046	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.606000	0.82863	2.186000	0.69663	0.533000	0.62120	GAG		0.667	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		3	31	0	0	0	1	0	3	31					C	132812836	T	C	132812836	3	2	434	1	0	0	0	0	1	0	0	0	10874	1551	54	3	913	3	OPCML	11	132812836	Missense_Mutation	SNP	T	TCGA-FY-A3R8-01A-11D-A21Z-08	105422543	132812836	2193680	18	8883											
KRTAP24-1	643803	broad.mit.edu	37	chr21	31654786	31654786	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaactcttggataagcagttAagttgtccaaagcagttgga	10	6	1	0			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr21:31654786A>G	ENST00000340345.4	-	1	490	c.465T>C	c.(463-465)ctT>ctC	p.L155L		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	155						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						ATAAGCAGTTAAGTTGTCCAA	0.458																																						ENST00000340345.4																			0				breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						c.(463-465)ctT>ctC		keratin associated protein 24-1							134	132	133					21																	31654786		1923	4141	6064	SO:0001819	synonymous_variant	643803					keratin filament	structural molecule activity	g.chr21:31654786A>G	AB096935	CCDS42915.1	21q22.11	2007-11-23			ENSG00000188694	ENSG00000188694		"Keratin associated proteins"	33902	protein-coding gene	gene with protein product							Standard	NM_001085455		Approved	KAP24.1	uc002ynv.3	Q3LI83	OTTHUMG00000125483	ENST00000340345.4:c.465T>C	21.37:g.31654786A>G							p.L155L	NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN			1	490	-			155					Q1XDX0	Silent	SNP	ENST00000340345.4	37	c.465T>C	CCDS42915.1																																																																																				0.458	KRTAP24-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246806.2	NM_001085455		6	89	0	0	0	1	0	6	89					G	31654786	A	G	31654786	2	3	434	1	0	0	0	0	0	0	0	1	8542	349	13	3		3	KRTAP24-1	21	31654786	Silent	SNP	A	TCGA-FY-A3R8-01A-11D-A21Z-08		31654786	16475109	19	8884											
FGD1	2245	broad.mit.edu	37	chrX	54492189	54492189	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgtccaggtgttgaccagCtccacggcccggtcaaagtt	11	13	2	1			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chrX:54492189C>A	ENST00000375135.3	-	7	2170	c.1437G>T	c.(1435-1437)gaG>gaT	p.E479D		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	479	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGTTGACCAGCTCCACGGCCC	0.547																																						ENST00000375135.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(1435-1437)gaG>gaT		FYVE, RhoGEF and PH domain containing 1							89	68	75					X																	54492189		2203	4300	6503	SO:0001583	missense	2245				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chrX:54492189C>A	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	3663	protein-coding gene	gene with protein product		300546	"faciogenital dysplasia (Aarskog-Scott syndrome)"	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.1437G>T	X.37:g.54492189C>A	ENSP00000364277:p.Glu479Asp						p.E479D	NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN			7	2170	-			479			DH.		Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	c.1437G>T	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.010093	0.35415	.	.	ENSG00000102302	ENST00000375135	T	0.64260	-0.09	5.54	1.81	0.25067	Dbl homology (DH) domain (5);	0.000000	0.52532	D	0.000062	T	0.53302	0.1788	L	0.38692	1.165	0.37180	D	0.903445	B;B	0.21225	0.053;0.043	B;B	0.35688	0.208;0.124	T	0.50634	-0.8805	10	0.38643	T	0.18	-7.5162	9.0654	0.36460	0.0:0.6117:0.0:0.3883	.	237;479	B4DS99;P98174	.;FGD1_HUMAN	D	479	ENSP00000364277:E479D	ENSP00000364277:E479D	E	-	3	2	FGD1	54508914	0.980000	0.34600	0.998000	0.56505	0.876000	0.50452	0.275000	0.18698	0.183000	0.20059	-1.261000	0.01458	GAG		0.547	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		13	24	1	0	3.03607e-14	1	3.61437e-14	13	24					A	54492189	C	A	54492189	3	1	434	1	0	0	0	0	1	0	0	0	5832	796	28	4	1496	4	FGD1	23	54492189	Missense_Mutation	SNP	C	TCGA-FY-A3R8-01A-11D-A21Z-08		54492189	100778371	20	8885											
COL11A1	1301	broad.mit.edu	37	chr1	103496733	103496733	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagagtcacagtctggaCtataatgctcacagtagtca	9	9	4	2			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr1:103496733C>A	ENST00000370096.3	-	5	1031	c.719G>T	c.(718-720)aGt>aTt	p.S240I	COL11A1_ENST00000358392.2_Missense_Mutation_p.S240I|COL11A1_ENST00000512756.1_Missense_Mutation_p.S240I|COL11A1_ENST00000353414.4_Missense_Mutation_p.S240I	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	240	Laminin G-like.|Nonhelical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACAGTCTGGACTATAATGCTC	0.453																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(718-720)aGt>aTt		collagen, type XI, alpha 1							110	97	101					1																	103496733		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103496733C>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.719G>T	1.37:g.103496733C>A	ENSP00000359114:p.Ser240Ile					COL11A1_ENST00000512756.1_Missense_Mutation_p.S240I|COL11A1_ENST00000353414.4_Missense_Mutation_p.S240I|COL11A1_ENST00000370096.3_Missense_Mutation_p.S240I	p.S240I	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	5	1036	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	240			Nonhelical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.719G>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.467084	0.43839	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239;ENST00000447608	D;D;D;D;D;T	0.89270	-2.42;-2.44;-2.48;-2.49;-2.13;3.15	5.59	5.59	0.84812	Concanavalin A-like lectin/glucanase (1);	0.181870	0.64402	D	0.000018	T	0.76205	0.3955	L	0.41027	1.25	0.48830	D	0.999717	B;B;B;B	0.16603	0.0;0.004;0.018;0.002	B;B;B;B	0.12156	0.002;0.005;0.007;0.002	T	0.71364	-0.4615	10	0.17832	T	0.49	.	14.4336	0.67266	0.1474:0.8526:0.0:0.0	.	240;240;240;240	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	I	240;240;240;240;240;167	ENSP00000359114:S240I;ENSP00000351163:S240I;ENSP00000302551:S240I;ENSP00000426533:S240I;ENSP00000408640:S240I;ENSP00000410177:S167I	ENSP00000302551:S240I	S	-	2	0	COL11A1	103269321	1.000000	0.71417	0.944000	0.38274	0.998000	0.95712	3.550000	0.53691	2.631000	0.89168	0.551000	0.68910	AGT		0.453	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		5	34	1	0	0.00307968	1	0.00326823	5	34					A	103496733	C	A	103496733	3	1	435	1	0	0	0	0	1	0	0	0	3667	565	20	4	5110	4	COL11A1	1	103496733	Missense_Mutation	SNP	C	TCGA-FY-A3R9-01A-11D-A21Z-08		103496733	145753888	1	8886											
NRAS	4893	broad.mit.edu	37	chr1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catggcactgtactcttcttGtccagctgtatccagtatgt	8	11	2	0	rs121913254		TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		610	Substitution - Missense(609)|Complex(1)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)	skin(372)|haematopoietic_and_lymphoid_tissue(73)|thyroid(55)|NS(29)|large_intestine(28)|soft_tissue(16)|lung(12)|autonomic_ganglia(6)|liver(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|cervix(2)|endometrium(2)|pancreas(2)|meninges(1)|kidney(1)|biliary_tract(1)|stomach(1)|ovary(1)|bone(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)Caa>Aaa		neuroblastoma RAS viral (v-ras) oncogene homolog							180	156	164					1																	115256530		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256530G>T	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.181C>A	1.37:g.115256530G>T	ENSP00000358548:p.Gln61Lys	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61K	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	434	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.181C>A	CCDS877.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255564	0.95336	.	.	ENSG00000213281	ENST00000369535	D	0.83506	-1.73	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.91845	0.7419	H	0.95850	3.73	0.80722	D	1	P	0.51791	0.948	P	0.54759	0.76	D	0.93711	0.7024	10	0.62326	D	0.03	.	18.6626	0.91477	0.0:0.0:1.0:0.0	.	61	P01111	RASN_HUMAN	K	61	ENSP00000358548:Q61K	ENSP00000358548:Q61K	Q	-	1	0	NRAS	115058053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.520000	0.98027	2.624000	0.88883	0.655000	0.94253	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		83	128	1	0	9.34078e-37	1	1.10391e-36	83	128					T	115256530	G	T	115256530	3	4	435	1	0	0	0	0	1	0	0	0	10640	1386	48	4	400	4	NRAS	1	115256530	Missense_Mutation	SNP	G	TCGA-FY-A3R9-01A-11D-A21Z-08	11759797	115256530	133994091	2	8887											
HMCN1	83872	broad.mit.edu	37	chr1	186114607	186114607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacggagggcagatgcggcGgtaccgcacatgtgataacc	14	10	0	2	rs111360184		TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr1:186114607G>A	ENST00000271588.4	+	92	14568	c.14339G>A	c.(14338-14340)cGg>cAg	p.R4780Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4780Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4780	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGATGCGGCGGTACCGCACA	0.557																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(14338-14340)cGg>cAg		hemicentin 1							97	87	91					1																	186114607		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186114607G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14339G>A	1.37:g.186114607G>A	ENSP00000271588:p.Arg4780Gln					HMCN1_ENST00000367492.2_Missense_Mutation_p.R4780Q	p.R4780Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			92	14568	+			4780			TSP type-1 5.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.14339G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	34	5.404657	0.96051	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.80738	-1.41;-1.41	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.91696	0.7375	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92916	0.6351	10	0.87932	D	0	.	19.2606	0.93967	0.0:0.0:1.0:0.0	.	4780	Q96RW7	HMCN1_HUMAN	Q	4780	ENSP00000271588:R4780Q;ENSP00000356462:R4780Q	ENSP00000271588:R4780Q	R	+	2	0	HMCN1	184381230	1.000000	0.71417	0.994000	0.49952	0.752000	0.42762	9.338000	0.96553	2.551000	0.86045	0.655000	0.94253	CGG		0.557	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		25	50	0	0	0	1	0	25	50					A	186114607	G	A	186114607	3	1	435	1	0	0	0	0	1	0	0	0	7220	1116	39	1	14705	1	HMCN1	1	186114607	Missense_Mutation	SNP	G	TCGA-FY-A3R9-01A-11D-A21Z-08	70858077	186114607	63136014	3	8888											
C1orf27	54953	broad.mit.edu	37	chr1	186359875	186359875	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagattggaagtatcaAagtggattatcatcctcatg	9	8	3	1			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr1:186359875A>G	ENST00000287859.6	+	7	632	c.507A>G	c.(505-507)caA>caG	p.Q169Q	C1orf27_ENST00000419367.3_Silent_p.Q137Q|C1orf27_ENST00000432021.3_Silent_p.Q169Q|C1orf27_ENST00000367470.3_Silent_p.Q169Q	NM_017847.5	NP_060317.3	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	169						integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						GGAAGTATCAAAGTGGATTAT	0.373																																						ENST00000367470.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						c.(505-507)caA>caG		chromosome 1 open reading frame 27							138	125	129					1																	186359875		1873	4117	5990	SO:0001819	synonymous_variant	54953					integral to membrane	oxidoreductase activity|zinc ion binding	g.chr1:186359875A>G	BC003397	CCDS53448.1, CCDS53449.1, CCDS53450.1	1q25	2012-06-25			ENSG00000157181	ENSG00000157181			24299	protein-coding gene	gene with protein product	"transactivated by recombinant transforming growth factor beta"	609335				12868032	Standard	NM_017847		Approved	FLJ20505, odr-4, TTG1	uc021pgj.1	Q5SWX8	OTTHUMG00000035579	ENST00000287859.6:c.507A>G	1.37:g.186359875A>G						C1orf27_ENST00000419367.3_Silent_p.Q137Q|C1orf27_ENST00000287859.6_Silent_p.Q169Q|C1orf27_ENST00000432021.3_Silent_p.Q169Q	p.Q169Q	NM_001164245.1	NP_001157717.1	Q5SWX8	ODR4_HUMAN			7	743	+			169					B4DNY0|E9PFR7|Q19CC6|Q8WYB6|Q9BTS2|Q9H6A6|Q9NX06	Silent	SNP	ENST00000287859.6	37	c.507A>G	CCDS53448.1																																																																																				0.373	C1orf27-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086352.2	NM_017847		27	34	0	0	0	1	0	27	34					G	186359875	A	G	186359875	2	3	435	1	0	0	0	0	0	0	0	1	2036	11	1	3		3	C1orf27	1	186359875	Silent	SNP	A	TCGA-FY-A3R9-01A-11D-A21Z-08	245268	186359875	62890746	4	8889											
RYR2	6262	broad.mit.edu	37	chr1	237791321	237791321	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcccttggtcagattcgGtccctgctgagtgtgagaat	12	10	1	3			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr1:237791321G>A	ENST00000366574.2	+	41	6698	c.6381G>A	c.(6379-6381)cgG>cgA	p.R2127R	RYR2_ENST00000542537.1_Silent_p.R2111R|RYR2_ENST00000360064.6_Silent_p.R2125R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2127	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTCAGATTCGGTCCCTGCTGA	0.483																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(6379-6381)cgG>cgA		ryanodine receptor 2 (cardiac)							107	115	113					1																	237791321		2001	4173	6174	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237791321G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6381G>A	1.37:g.237791321G>A						RYR2_ENST00000360064.6_Silent_p.R2125R|RYR2_ENST00000542537.1_Silent_p.R2111R	p.R2127R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		41	6698	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2127			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.6381G>A	CCDS55691.1																																																																																				0.483	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		3	70	0	0	0	1	0	3	70					A	237791321	G	A	237791321	2	1	435	1	0	0	0	0	0	0	0	1	13769	1248	44	2		2	RYR2	1	237791321	Silent	SNP	G	TCGA-FY-A3R9-01A-11D-A21Z-08	51431446	237791321	11459300	5	8890											
OR2M5	127059	broad.mit.edu	37	chr1	248309215	248309215	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtactatggagcaggtTtgttcatgtacatacggccc	11	8	1	0			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr1:248309215T>A	ENST00000366476.1	+	1	766	c.766T>A	c.(766-768)Ttg>Atg	p.L256M		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TGGAGCAGGTTTGTTCATGTA	0.507																																						ENST00000366476.1																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49						c.(766-768)Ttg>Atg		olfactory receptor, family 2, subfamily M, member 5							217	198	204					1																	248309215		2203	4300	6503	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248309215T>A		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"GPCR / Class A : Olfactory receptors"	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.766T>A	1.37:g.248309215T>A	ENSP00000355432:p.Leu256Met						p.L256M	NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	766	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		256						Missense_Mutation	SNP	ENST00000366476.1	37	c.766T>A	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	t	0.007	-2.011014	0.00422	.	.	ENSG00000162727	ENST00000366476	T	0.45276	0.9	3.13	-6.26	0.02033	GPCR, rhodopsin-like superfamily (1);	0.686149	0.10987	U	0.612049	T	0.13157	0.0319	N	0.04820	-0.15	0.09310	N	1	B	0.16802	0.019	B	0.23018	0.043	T	0.21314	-1.0249	10	0.07990	T	0.79	.	1.7427	0.02955	0.2365:0.1862:0.0863:0.491	.	256	A3KFT3	OR2M5_HUMAN	M	256	ENSP00000355432:L256M	ENSP00000355432:L256M	L	+	1	2	OR2M5	246375838	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-6.032000	0.00084	-2.617000	0.00442	-0.600000	0.04104	TTG		0.507	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		82	202	0	0	0	1	0	82	202					A	248309215	T	A	248309215	3	1	435	1	0	0	0	0	1	0	0	0	11013	1838	64	5	768	5	OR2M5	1	248309215	Missense_Mutation	SNP	T	TCGA-FY-A3R9-01A-11D-A21Z-08	10517894	248309215	941406	6	8891											
SEPSECS	51091	broad.mit.edu	37	chr4	25125832	25125832	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccactcacagtttgcatggaCccaagaggcacaaccctgaa	8	14	1	2			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr4:25125832C>A	ENST00000382103.2	-	11	1299	c.1227G>T	c.(1225-1227)ggG>ggT	p.G409G	SEPSECS_ENST00000302922.3_Silent_p.G330G|SEPSECS_ENST00000515272.1_5'Flank	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	409					selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	pyridoxal phosphate binding (GO:0030170)|transferase activity, transferring selenium-containing groups (GO:0016785)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)				TTTGCATGGACCCAAGAGGCA	0.388																																						ENST00000382103.2																			0				endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8						c.(1225-1227)ggG>ggT		Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	Pyridoxal Phosphate(DB00114)						80	75	77					4																	25125832		2203	4300	6503	SO:0001819	synonymous_variant	51091				selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding	g.chr4:25125832C>A	AJ238617	CCDS3432.1, CCDS3432.2	4p15.2	2008-10-27			ENSG00000109618	ENSG00000109618			30605	protein-coding gene	gene with protein product	"soluble liver antigen/liver pancreas antigen"	613009				16230358, 10931155, 17142313, 17194211	Standard	NM_016955		Approved	SLA/LP, SLA	uc003grg.3	Q9HD40	OTTHUMG00000128563	ENST00000382103.2:c.1227G>T	4.37:g.25125832C>A						SEPSECS_ENST00000302922.3_Silent_p.G330G	p.G409G	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN			11	1299	-		Breast(46;0.173)	409					A8K8W1|Q0D2P3|Q17RT1|Q9NXZ5|Q9UGM9|Q9Y353	Silent	SNP	ENST00000382103.2	37	c.1227G>T	CCDS3432.2																																																																																				0.388	SEPSECS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250414.2	NM_016955		7	46	1	0	0.0381472	1	0.0396731	7	46					A	25125832	C	A	25125832	2	1	435	1	0	0	0	0	0	0	0	1	14058	494	18	4		4	SEPSECS	4	25125832	Silent	SNP	C	TCGA-FY-A3R9-01A-11D-A21Z-08		25125832	166028444	7	8892											
AASDH	132949	broad.mit.edu	37	chr4	57215792	57215792	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gttggtctgtgaaactgagtCagaaggacaggctgaagagc	15	6	2	5			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr4:57215792C>G	ENST00000205214.6	-	11	2305	c.2125G>C	c.(2125-2127)Gac>Cac	p.D709H	AASDH_ENST00000434343.2_Missense_Mutation_p.D224H|AASDH_ENST00000451613.1_Missense_Mutation_p.D709H|AASDH_ENST00000513376.1_Missense_Mutation_p.D609H|AASDH_ENST00000602986.1_Missense_Mutation_p.D556H|AASDH_ENST00000502617.1_Missense_Mutation_p.D709H	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	709					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GAAACTGAGTCAGAAGGACAG	0.378																																						ENST00000205214.6																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(2125-2127)Gac>Cac		aminoadipate-semialdehyde dehydrogenase							62	64	63					4																	57215792		2203	4300	6503	SO:0001583	missense	132949				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	g.chr4:57215792C>G	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"Acyl-CoA synthetase family"	23993	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 4"	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.2125G>C	4.37:g.57215792C>G	ENSP00000205214:p.Asp709His					AASDH_ENST00000502617.1_Missense_Mutation_p.D709H|AASDH_ENST00000513376.1_Missense_Mutation_p.D609H|AASDH_ENST00000602986.1_Missense_Mutation_p.D556H|AASDH_ENST00000434343.2_Missense_Mutation_p.D224H|AASDH_ENST00000451613.1_Missense_Mutation_p.D709H	p.D709H	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN			11	2305	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	709					A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	37	c.2125G>C	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.329566	0.24167	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000434343;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T;T	0.66280	-0.2;-0.06;2.15;0.34;0.36	5.52	4.66	0.58398	.	0.706131	0.15236	N	0.273175	T	0.71056	0.3295	M	0.66939	2.045	0.09310	N	1	D;D;D;D	0.65815	0.995;0.989;0.989;0.98	P;P;P;P	0.57468	0.821;0.799;0.799;0.707	T	0.61357	-0.7079	10	0.37606	T	0.19	-6.7075	10.6796	0.45807	0.0:0.908:0.0:0.092	.	556;709;709;709	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	H	709;609;224;709;556;709	ENSP00000205214:D709H;ENSP00000423760:D609H;ENSP00000392158:D224H;ENSP00000409656:D709H;ENSP00000421171:D709H	ENSP00000205214:D709H	D	-	1	0	AASDH	56910549	0.001000	0.12720	0.007000	0.13788	0.049000	0.14656	0.707000	0.25704	1.496000	0.48567	0.650000	0.86243	GAC		0.378	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		4	81	0	0	0	1	0	4	81					G	57215792	C	G	57215792	3	3	435	1	0	0	0	0	1	0	0	0	22	826	29	4	1191	4	AASDH	4	57215792	Missense_Mutation	SNP	C	TCGA-FY-A3R9-01A-11D-A21Z-08	32089960	57215792	133938484	8	8893											
PCDHB7	56129	broad.mit.edu	37	chr5	140553586	140553586	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatccaggacgatgtcccCttcatcctgaagccatctgt	7	15	2	1			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr5:140553586C>T	ENST00000231137.3	+	1	1344	c.1170C>T	c.(1168-1170)ccC>ccT	p.P390P		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	390	Cadherin 4. {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)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGATGTCCCCTTCATCCTGA	0.473																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1168-1170)ccC>ccT									74	75	75					5																	140553586		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553586C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1170C>T	5.37:g.140553586C>T							p.P390P	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1344	+			390			Cadherin 4.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1170C>T	CCDS4249.1																																																																																				0.473	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		8	63	0	0	0	1	0	8	63					T	140553586	C	T	140553586	2	4	435	1	0	0	0	0	0	0	0	1	11547	668	24	2		2	PCDHB7	5	140553586	Silent	SNP	C	TCGA-FY-A3R9-01A-11D-A21Z-08		140553586	40361674	9	8894											
TRIM39	56658	broad.mit.edu	37	chr6	30297528	30297528	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccgttgtgccactggacgAtgctacacaggagtacaagg	12	11	0	0			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr6:30297528A>G	ENST00000396547.1	+	2	594	c.434A>G	c.(433-435)gAt>gGt	p.D145G	HCG18_ENST00000412685.2_RNA|TRIM39_ENST00000376656.4_Missense_Mutation_p.D145G|TRIM39_ENST00000540416.1_Missense_Mutation_p.D145G|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.D57G|TRIM39_ENST00000396551.3_Missense_Mutation_p.D145G|HCG18_ENST00000413358.2_RNA|TRIM39_ENST00000376659.5_Missense_Mutation_p.D145G|HCG18_ENST00000426882.1_RNA|TRIM39_ENST00000396548.1_Missense_Mutation_p.D145G			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	145					apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						CCACTGGACGATGCTACACAG	0.542																																						ENST00000376659.5																			0				ovary(3)	3						c.(433-435)gAt>gGt		tripartite motif containing 39							60	64	63					6																	30297528		1508	2707	4215	SO:0001583	missense	56658							g.chr6:30297528A>G	BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10065	protein-coding gene	gene with protein product		605700	"ring finger protein 23", "tripartite motif-containing 39"	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.434A>G	6.37:g.30297528A>G	ENSP00000379796:p.Asp145Gly					TRIM39_ENST00000396551.3_Missense_Mutation_p.D145G|TRIM39_ENST00000396547.1_Missense_Mutation_p.D145G|TRIM39_ENST00000396548.1_Missense_Mutation_p.D145G|TRIM39_ENST00000376656.4_Missense_Mutation_p.D145G|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.D57G|TRIM39_ENST00000540416.1_Missense_Mutation_p.D145G	p.D145G	NM_172016.2	NP_742013.1					3	1032	+								Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Missense_Mutation	SNP	ENST00000396547.1	37	c.434A>G	CCDS34377.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.56|17.56	3.420802|3.420802	0.62622|0.62622	.|.	.|.	ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000248167|ENSG00000204599	ENST00000396551;ENST00000376656;ENST00000545104;ENST00000540416;ENST00000449040;ENST00000412529;ENST00000428728;ENST00000396548;ENST00000376659;ENST00000396547;ENST00000513556|ENST00000420746	T;T;T;T;T;T;T;T|.	0.58358|.	0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34|.	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	0.094359|.	0.44285|.	D|.	0.000471|.	T|T	0.51244|0.51244	0.1663|0.1663	L|L	0.49126|0.49126	1.545|1.545	0.47037|0.47037	D|D	0.999293|0.999293	B;B;P|.	0.37061|.	0.288;0.128;0.58|.	B;B;B|.	0.42030|.	0.118;0.101;0.373|.	T|T	0.51364|0.51364	-0.8715|-0.8715	10|5	0.87932|.	D|.	0|.	.|.	13.3341|13.3341	0.60507|0.60507	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	59;145;145|.	F5H2V3;Q9HCM9;Q9HCM9-2|.	.;TRI39_HUMAN;.|.	G|V	145;145;145;145;145;59;145;145;145;145;57|75	ENSP00000379800:D145G;ENSP00000365844:D145G;ENSP00000439400:D145G;ENSP00000406019:D145G;ENSP00000379797:D145G;ENSP00000365847:D145G;ENSP00000379796:D145G;ENSP00000424048:D57G|.	ENSP00000365844:D145G|.	D|M	+|+	2|1	0|0	TRIM39-RPP21;TRIM39|TRIM39	30405507|30405507	1.000000|1.000000	0.71417|0.71417	0.574000|0.574000	0.28523|0.28523	0.941000|0.941000	0.58515|0.58515	6.364000|6.364000	0.73086|0.73086	2.253000|2.253000	0.74438|0.74438	0.454000|0.454000	0.30748|0.30748	GAT|ATG		0.542	TRIM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076086.2	NM_172016		7	67	0	0	0	1	0	7	67					G	30297528	A	G	30297528	3	3	435	1	0	0	0	0	1	0	0	0	16510	333	12	3	436	3	TRIM39	6	30297528	Missense_Mutation	SNP	A	TCGA-FY-A3R9-01A-11D-A21Z-08		30297528	140817539	10	8895											
ZBTB9	221504	broad.mit.edu	37	chr6	33423522	33423522	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcaggtggaagaagaagaGgaggaggaggaagatgatga	18	1	1	6			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr6:33423522G>A	ENST00000395064.2	+	2	913	c.645G>A	c.(643-645)gaG>gaA	p.E215E		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	215					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(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						aagaagaagaggaggaggagg	0.552																																						ENST00000395064.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						c.(643-645)gaG>gaA		zinc finger and BTB domain containing 9							61	61	61					6																	33423522		2203	4300	6503	SO:0001819	synonymous_variant	221504				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33423522G>A	AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	28323	protein-coding gene	gene with protein product						12477932	Standard	NM_152735		Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.645G>A	6.37:g.33423522G>A							p.E215E	NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN			2	913	+			215					A2AB19	Silent	SNP	ENST00000395064.2	37	c.645G>A	CCDS4780.1																																																																																				0.552	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276533.1	NM_152735		3	97	0	0	0	1	0	3	97					A	33423522	G	A	33423522	2	1	435	1	0	0	0	0	0	0	0	1	17555	991	35	2		2	ZBTB9	6	33423522	Silent	SNP	G	TCGA-FY-A3R9-01A-11D-A21Z-08	3125994	33423522	137691545	11	8896											
CSMD3	114788	broad.mit.edu	37	chr8	113267520	113267520	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaaccactccaagtgccatcTgcttgacatattctggtgct	8	12	2	1			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr8:113267520T>A	ENST00000297405.5	-	62	10243	c.9999A>T	c.(9997-9999)gcA>gcT	p.A3333A	CSMD3_ENST00000455883.2_Silent_p.A3164A|CSMD3_ENST00000352409.3_Silent_p.A3263A|CSMD3_ENST00000343508.3_Silent_p.A3293A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3333	Sushi 26. {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						AAGTGCCATCTGCTTGACATA	0.373										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.(9997-9999)gcA>gcT		CUB and Sushi multiple domains 3							133	120	124					8																	113267520		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113267520T>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.9999A>T	8.37:g.113267520T>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Silent_p.A3293A|CSMD3_ENST00000352409.3_Silent_p.A3263A|CSMD3_ENST00000455883.2_Silent_p.A3164A	p.A3333A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			62	10243	-			3333			Sushi 26.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.9999A>T	CCDS6315.1																																																																																				0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		34	72	0	0	0	1	0	34	72					A	113267520	T	A	113267520	2	1	435	1	0	0	0	0	0	0	0	1	3946	1567	55	5		5	CSMD3	8	113267520	Silent	SNP	T	TCGA-FY-A3R9-01A-11D-A21Z-08		113267520	33096502	12	8897											
AKAP2	11217	broad.mit.edu	37	chr9	112811016	112811033	+	In_Frame_Del	DEL	CCCCCGGAGTCTCCTGGA	CCCCCGGAGTCTCCTGGA	-													ccggggctgccgctcgccttCccccggagtctcctggaccc					rs551064067	byFrequency	TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr9:112811016_112811033delCCCCCGGAGTCTCCTGGA	ENST00000374525.1	+	1	41_58	c.37_54delCCCCCGGAGTCTCCTGGA	c.(37-54)cccccggagtctcctggadel	p.PPESPG19del	AKAP2_ENST00000555236.1_Intron|PALM2-AKAP2_ENST00000374530.3_Intron|AKAP2_ENST00000434623.2_In_Frame_Del_p.PPESPG19del|PALM2-AKAP2_ENST00000302798.7_Intron|AKAP2_ENST00000510514.5_Intron	NM_001004065.4	NP_001004065.2	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	373										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CGCTCGCCTTCCCCCGGAGTCTCCTGGACCCCCGGAGT	0.789														255	0.0509185	0.0038	0.0375	5008	,	,		10950	0.0417		0.0616	False		,,,				2504	0.1227					ENST00000374525.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						c.(37-54)del		A kinase (PRKA) anchor protein 2																																				SO:0001651	inframe_deletion	11217							g.chr9:112811016_112811033delCCCCCGGAGTCTCCTGGA	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"A-kinase anchor proteins"	372	protein-coding gene	gene with protein product	"protein kinase A2"	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000374525.1:c.37_54delCCCCCGGAGTCTCCTGGA	9.37:g.112811016_112811033delCCCCCGGAGTCTCCTGGA	ENSP00000363649:p.Pro19_Gly24del					AKAP2_ENST00000510514.5_Intron|AKAP2_ENST00000555236.1_Intron|PALM2-AKAP2_ENST00000302798.7_Intron|PALM2-AKAP2_ENST00000374530.3_Intron|AKAP2_ENST00000434623.2_In_Frame_Del_p.PPESPG19del	p.PPESPG19del	NM_001004065.4	NP_001004065.2					1	41_58	+								B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	In_Frame_Del	DEL	ENST00000374525.1	37	c.37_54delCCCCCGGAGTCTCCTGGA	CCDS43861.1																																																																																				0.789	AKAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053609.3	NM_001004065		3	5						3	5	---	---	---	---	-	112811033	CCCCCGGAGTCTCCTGGA	-	112811016	7	5	435	1	0	1	0	1	0	0	0	0	451	855	30	0	39	0	AKAP2	9	112811016	In_Frame_Del	DEL	CCCCCGGAGTCTCCTGGA	TCGA-FY-A3R9-01A-11D-A21Z-08		112811016	28402415	13	8898											
MAMDC4	158056	broad.mit.edu	37	chr9	139751442	139751442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggccccaggtgccagcaGcacccacggagtgtctcagc	12	17	1	0			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr9:139751442G>A	ENST00000317446.2	+	16	1971	c.1921G>A	c.(1921-1923)Gca>Aca	p.A641T	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000445819.1_Missense_Mutation_p.A720T	NM_206920.2	NP_996803.2			MAM domain containing 4											breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GGTGCCAGCAGCACCCACGGA	0.687																																						ENST00000445819.1																			0				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19						c.(2158-2160)Gca>Aca		MAM domain containing 4							34	38	36					9																	139751442		2200	4298	6498	SO:0001583	missense	158056				protein transport	integral to membrane		g.chr9:139751442G>A	AL834531	CCDS7010.1	9q34.3	2013-10-21			ENSG00000177943	ENSG00000177943			24083	protein-coding gene	gene with protein product	"apical early endosomal glycoprotein precursor", "endotubin"					7829488	Standard	NM_206920		Approved	AEGP, DKFZp434M1411	uc004cjs.3	Q6UXC1	OTTHUMG00000020951	ENST00000317446.2:c.1921G>A	9.37:g.139751442G>A	ENSP00000319388:p.Ala641Thr					MAMDC4_ENST00000317446.2_Missense_Mutation_p.A641T|MAMDC4_ENST00000485732.1_3'UTR	p.A720T			Q6UXC1	AEGP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	18	2208	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	720			MAM 4.			Missense_Mutation	SNP	ENST00000317446.2	37	c.2158G>A	CCDS7010.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	5.096|5.096	0.203294|0.203294	0.09704|0.09704	.|.	.|.	ENSG00000177943|ENSG00000177943	ENST00000317446;ENST00000445819|ENST00000413647	T;T|.	0.01787|.	4.64;4.64|.	5.02|5.02	1.93|1.93	0.25924|0.25924	.|.	0.781182|.	0.11425|.	N|.	0.565398|.	T|T	0.21881|0.21881	0.0527|0.0527	N|N	0.13327|0.13327	0.33|0.33	0.09310|0.09310	N|N	1|1	B|.	0.24618|.	0.107|.	B|.	0.22880|.	0.042|.	T|T	0.23084|0.23084	-1.0198|-1.0198	10|5	0.10111|.	T|.	0.7|.	-4.9669|-4.9669	8.9575|8.9575	0.35827|0.35827	0.2699:0.0:0.7301:0.0|0.2699:0.0:0.7301:0.0	.|.	641|.	Q6UXC1-2|.	.|.	T|N	641;720|705	ENSP00000319388:A641T;ENSP00000411339:A720T|.	ENSP00000319388:A641T|.	A|S	+|+	1|2	0|0	MAMDC4|MAMDC4	138871263|138871263	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.002000|0.002000	0.02628|0.02628	0.224000|0.224000	0.17738|0.17738	0.963000|0.963000	0.38082|0.38082	0.561000|0.561000	0.74099|0.74099	GCA|AGC		0.687	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254642.3	NM_206920		3	62	0	0	0	1	0	3	62					A	139751442	G	A	139751442	3	1	435	1	0	0	0	0	1	0	0	0	9204	971	34	2	1983	2	MAMDC4	9	139751442	Missense_Mutation	SNP	G	TCGA-FY-A3R9-01A-11D-A21Z-08	26940426	139751442	1461989	14	8899											
SIDT2	51092	broad.mit.edu	37	chr11	117058406	117058406	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactggggacctctcttacGgttaccagggtgagtgggcc	15	11	1	1			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr11:117058406G>A	ENST00000324225.4	+	12	1681	c.1150G>A	c.(1150-1152)Ggt>Agt	p.G384S	SIDT2_ENST00000431081.2_Missense_Mutation_p.G388S	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	384					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CCTCTCTTACGGTTACCAGGG	0.592																																						ENST00000324225.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1150-1152)Ggt>Agt		SID1 transmembrane family, member 2							98	84	89					11																	117058406		2201	4296	6497	SO:0001583	missense	51092					integral to membrane|lysosomal membrane		g.chr11:117058406G>A	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.1150G>A	11.37:g.117058406G>A	ENSP00000314023:p.Gly384Ser					SIDT2_ENST00000431081.2_Missense_Mutation_p.G388S	p.G384S	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)	12	1681	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	384					Q8NBY7|Q9Y357	Missense_Mutation	SNP	ENST00000324225.4	37	c.1150G>A	CCDS31682.1	.	.	.	.	.	.	.	.	.	.	G	5.099	0.203917	0.09704	.	.	ENSG00000149577	ENST00000324225;ENST00000278951;ENST00000431081	T;T;T	0.20598	2.3;2.23;2.06	4.54	-2.79	0.05841	.	0.631387	0.16746	N	0.201237	T	0.10809	0.0264	L	0.28274	0.84	0.27269	N	0.958429	B;B;B;B	0.13594	0.002;0.007;0.008;0.005	B;B;B;B	0.10450	0.002;0.004;0.005;0.001	T	0.41360	-0.9513	10	0.07030	T	0.85	0.3993	11.4117	0.49929	0.5543:0.0:0.4457:0.0	.	384;388;384;384	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	S	384;384;388	ENSP00000314023:G384S;ENSP00000278951:G384S;ENSP00000399635:G388S	ENSP00000278951:G384S	G	+	1	0	SIDT2	116563616	0.000000	0.05858	0.172000	0.22920	0.690000	0.40134	-0.423000	0.07034	-0.772000	0.04602	0.462000	0.41574	GGT		0.592	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996		16	81	0	0	0	1	0	16	81					A	117058406	G	A	117058406	3	1	435	1	0	0	0	0	1	0	0	0	14303	1116	39	1	1196	1	SIDT2	11	117058406	Missense_Mutation	SNP	G	TCGA-FY-A3R9-01A-11D-A21Z-08		117058406	17948110	15	8900											
PZP	5858	broad.mit.edu	37	chr12	9322170	9322173	+	Frame_Shift_Del	DEL	AGTT	AGTT	-													aaattggtgagatccttcacAgttagcagattatatacctg							TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr12:9322170_9322173delAGTT	ENST00000261336.2	-	16	1882_1885	c.1854_1857delAACT	c.(1852-1857)ctaactfs	p.LT618fs	PZP_ENST00000381997.2_Frame_Shift_Del_p.LT487fs|PZP_ENST00000539983.1_5'Flank	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	618					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GATCCTTCACAGTTAGCAGATTAT	0.397																																					Melanoma(125;1402 1695 4685 34487 38571)	ENST00000261336.2																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						c.(1852-1857)ctfs		pregnancy-zone protein																																				SO:0001589	frameshift_variant	5858							g.chr12:9322170_9322173delAGTT	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.1854_1857delAACT	12.37:g.9322170_9322173delAGTT	ENSP00000261336:p.Leu618fs					PZP_ENST00000381997.2_Frame_Shift_Del_p.LT487fs	p.LT618fs	NM_002864.2	NP_002855.2					16	1882_1885	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Frame_Shift_Del	DEL	ENST00000261336.2	37	c.1854_1857delAACT	CCDS8600.1																																																																																				0.397	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		10	61						10	61	---	---	---	---	-	9322173	AGTT	-	9322170	7	5	435	1	0	1	0	1	0	0	0	0	12869	175	7	0	2675	0	PZP	12	9322170	Frame_Shift_Del	DEL	AGTT	TCGA-FY-A3R9-01A-11D-A21Z-08		9322170	124529725	16	8901											
KRR1	11103	broad.mit.edu	37	chr12	75902108	75902108	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactctttcaagtaagcttcCctgtattttgggaacaaagt	7	9	2	0			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr12:75902108C>A	ENST00000229214.4	-	2	227	c.204G>T	c.(202-204)agG>agT	p.R68S	KRR1_ENST00000438169.2_Missense_Mutation_p.R68S	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	68					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						AGTAAGCTTCCCTGTATTTTG	0.413																																						ENST00000229214.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						c.(202-204)agG>agT		KRR1, small subunit (SSU) processome component, homolog (yeast)							117	110	113					12																	75902108		2203	4300	6503	SO:0001583	missense	11103				rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding	g.chr12:75902108C>A	U55766	CCDS9012.1	12q	2011-03-15	2006-05-18	2006-05-18	ENSG00000111615	ENSG00000111615			5176	protein-coding gene	gene with protein product		612817	"HIV-1 rev binding protein 2", "HIV-1 Rev binding protein 2"	HRB2		7505766, 11027267, 11359931, 8675026	Standard	NM_007043		Approved	RIP-1	uc001sxt.3	Q13601	OTTHUMG00000169759	ENST00000229214.4:c.204G>T	12.37:g.75902108C>A	ENSP00000229214:p.Arg68Ser					KRR1_ENST00000438169.2_Missense_Mutation_p.R68S	p.R68S	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN			2	227	-			68					A0FIK6|A0JLP0|B2R989|E7EUQ0|Q8NEA8|Q8TC37|Q96AT5	Missense_Mutation	SNP	ENST00000229214.4	37	c.204G>T	CCDS9012.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854822	0.71719	.	.	ENSG00000111615	ENST00000229214;ENST00000438169	T;T	0.45276	0.9;0.9	5.96	-0.577	0.11727	.	0.000000	0.85682	D	0.000000	T	0.65719	0.2718	M	0.93638	3.44	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.999	T	0.64618	-0.6365	10	0.87932	D	0	-15.0909	6.325	0.21239	0.0:0.2694:0.1196:0.6109	.	68;68;68	B4DMS5;E7EUQ0;Q13601	.;.;KRR1_HUMAN	S	68	ENSP00000229214:R68S;ENSP00000411740:R68S	ENSP00000229214:R68S	R	-	3	2	KRR1	74188375	1.000000	0.71417	0.983000	0.44433	0.924000	0.55760	0.578000	0.23773	-0.085000	0.12573	-0.937000	0.02696	AGG		0.413	KRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405727.1	NM_007043		13	60	1	0	1.5739e-10	1	1.77919e-10	13	60					A	75902108	C	A	75902108	3	1	435	1	0	0	0	0	1	0	0	0	8446	622	22	4	977	4	KRR1	12	75902108	Missense_Mutation	SNP	C	TCGA-FY-A3R9-01A-11D-A21Z-08	66579938	75902108	57949787	17	8902											
PRDM4	11108	broad.mit.edu	37	chr12	108128006	108128006	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttatttatgtgcagaaagaGactcatccgctgaatacaca	7	8	1	3			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr12:108128006G>T	ENST00000228437.5	-	12	2846	c.2387C>A	c.(2386-2388)tCt>tAt	p.S796Y	RP11-864J10.4_ENST00000546714.1_RNA|RP11-864J10.4_ENST00000546829.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	796					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TGCAGAAAGAGACTCATCCGC	0.378																																						ENST00000228437.5																			0				biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						c.(2386-2388)tCt>tAt		PR domain containing 4							130	126	128					12																	108128006		2203	4300	6503	SO:0001583	missense	11108				cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr12:108128006G>T	AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"Zinc fingers, C2H2-type"	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.2387C>A	12.37:g.108128006G>T	ENSP00000228437:p.Ser796Tyr						p.S796Y	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN			12	2846	-			796					Q9UFA6	Missense_Mutation	SNP	ENST00000228437.5	37	c.2387C>A	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.387628	0.42308	.	.	ENSG00000110851	ENST00000228437	T	0.11930	2.73	6.03	5.1	0.69264	.	0.456216	0.27147	N	0.020717	T	0.09949	0.0244	N	0.24115	0.695	0.19300	N	0.999977	B	0.32693	0.38	B	0.31751	0.135	T	0.22138	-1.0225	10	0.41790	T	0.15	-0.1345	11.5022	0.50444	0.076:0.1385:0.7855:0.0	.	796	Q9UKN5	PRDM4_HUMAN	Y	796	ENSP00000228437:S796Y	ENSP00000228437:S796Y	S	-	2	0	PRDM4	106652136	0.151000	0.22747	0.811000	0.32455	0.865000	0.49528	2.089000	0.41672	2.868000	0.98415	0.555000	0.69702	TCT		0.378	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	NM_012406		13	138	1	0	1.37285e-15	1	1.58641e-15	13	138					T	108128006	G	T	108128006	3	4	435	1	0	0	0	0	1	0	0	0	12459	942	33	4	22	4	PRDM4	12	108128006	Missense_Mutation	SNP	G	TCGA-FY-A3R9-01A-11D-A21Z-08	32225898	108128006	25723889	18	8903											
DGKH	160851	broad.mit.edu	37	chr13	42701681	42701681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacttcaaacttcgaggccGcaccctttactatgcaaagg	7	12	1	0	rs150403121		TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr13:42701681G>A	ENST00000337343.4	+	2	296	c.275G>A	c.(274-276)cGc>cAc	p.R92H	DGKH_ENST00000540693.1_Missense_Mutation_p.R92H|DGKH_ENST00000379274.2_5'UTR|DGKH_ENST00000261491.5_Missense_Mutation_p.R92H	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	92	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		CTTCGAGGCCGCACCCTTTAC	0.418													G|||	1	0.000199681	0	0	5008	,	,		18622	0		0.001	False		,,,				2504	0					ENST00000337343.4																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(274-276)cGc>cAc		diacylglycerol kinase, eta		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	91	80	84		275,275,275	4.8	0.9	13	dbSNP_134	84	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	DGKH	NM_001204504.1,NM_152910.4,NM_178009.3	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	92/1165,92/1165,92/1221	42701681	1,13005	2203	4300	6503	SO:0001583	missense	160851				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr13:42701681G>A	AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.275G>A	13.37:g.42701681G>A	ENSP00000337572:p.Arg92His					DGKH_ENST00000379274.2_5'UTR|DGKH_ENST00000261491.4_Missense_Mutation_p.R92H|DGKH_ENST00000540693.1_Missense_Mutation_p.R92H	p.R92H	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)	2	296	+		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)	92			PH.		A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	ENST00000337343.4	37	c.275G>A	CCDS9381.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	21.6	4.168901	0.78339	0.0	1.16E-4	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491	T;T;T	0.75704	-0.96;-0.96;-0.96	5.69	4.85	0.62838	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.76702	0.4024	L	0.35487	1.065	0.80722	D	1	B;D	0.56746	0.333;0.977	B;P	0.58077	0.061;0.832	T	0.79463	-0.1793	10	0.72032	D	0.01	.	14.5166	0.67824	0.0702:0.0:0.9298:0.0	.	92;92	Q86XP1-2;Q86XP1	.;DGKH_HUMAN	H	92	ENSP00000440823:R92H;ENSP00000337572:R92H;ENSP00000261491:R92H	ENSP00000261491:R92H	R	+	2	0	DGKH	41599681	1.000000	0.71417	0.880000	0.34516	0.500000	0.33767	7.936000	0.87665	1.414000	0.47017	0.655000	0.94253	CGC		0.418	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009		3	69	0	0	0	1	0	3	69					A	42701681	G	A	42701681	3	1	435	1	0	0	0	0	1	0	0	0	4470	1087	38	1	281	1	DGKH	13	42701681	Missense_Mutation	SNP	G	TCGA-FY-A3R9-01A-11D-A21Z-08		42701681	72468197	19	8904											
TBC1D4	9882	broad.mit.edu	37	chr13	75930351	75930351	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccaggctctggagactcccGgcagataaagccaaagtgat	11	11	1	3	rs377252828		TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr13:75930351G>T	ENST00000377636.3	-	4	1553	c.1207C>A	c.(1207-1209)Cgg>Agg	p.R403R	TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Silent_p.R403R|TBC1D4_ENST00000431480.2_Silent_p.R403R	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	403	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GGAGACTCCCGGCAGATAAAG	0.413																																						ENST00000377636.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1207-1209)Cgg>Agg		TBC1 domain family, member 4							62	60	60					13																	75930351		1912	4137	6049	SO:0001819	synonymous_variant	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75930351G>T	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"Akt substrate of 160 kDa"	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.1207C>A	13.37:g.75930351G>T						TBC1D4_ENST00000377625.2_Silent_p.R403R|TBC1D4_ENST00000431480.2_Silent_p.R403R|TBC1D4_ENST00000425511.1_5'UTR	p.R403R	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	4	1553	-		Prostate(6;0.014)|Breast(118;0.0982)	403			PID 2.		A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Silent	SNP	ENST00000377636.3	37	c.1207C>A	CCDS41901.1																																																																																				0.413	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		5	45	1	0	5.9392e-07	1	6.43413e-07	5	45					T	75930351	G	T	75930351	2	4	435	1	0	0	0	0	0	0	0	1	15619	1115	39	4		4	TBC1D4	13	75930351	Silent	SNP	G	TCGA-FY-A3R9-01A-11D-A21Z-08	33228670	75930351	39239527	20	8905											
COL4A1	1282	broad.mit.edu	37	chr13	110857850	110857850	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaacacttacgggactcccTttttcccctttgtcaccatc	5	15	1	0			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr13:110857850T>C	ENST00000375820.4	-	16	1015	c.894A>G	c.(892-894)aaA>aaG	p.K298K	COL4A1_ENST00000543140.1_Silent_p.K298K	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	298	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CGGGACTCCCTTTTTCCCCTT	0.463																																						ENST00000375820.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(892-894)aaA>aaG		collagen, type IV, alpha 1							150	175	166					13																	110857850		2203	4300	6503	SO:0001819	synonymous_variant	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110857850T>C	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.894A>G	13.37:g.110857850T>C						COL4A1_ENST00000543140.1_Silent_p.K298K	p.K298K	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		16	1015	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	298			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	ENST00000375820.4	37	c.894A>G	CCDS9511.1																																																																																				0.463	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			4	308	0	0	0	1	0	4	308					C	110857850	T	C	110857850	2	2	435	1	0	0	0	0	0	0	0	1	3689	1606	56	3		3	COL4A1	13	110857850	Silent	SNP	T	TCGA-FY-A3R9-01A-11D-A21Z-08	34927499	110857850	4312028	21	8906											
EXD2	55218	broad.mit.edu	37	chr14	69707775	69707775	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaccacaaccatcagaagctGctccggaaattcggggaaga	11	11	1	2			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr14:69707775G>C	ENST00000409018.3	+	9	1952	c.1824G>C	c.(1822-1824)ctG>ctC	p.L608L	EXD2_ENST00000312994.5_Silent_p.L608L|RP11-363J20.2_ENST00000556316.1_lincRNA|EXD2_ENST00000409949.1_Silent_p.L483L|EXD2_ENST00000409014.1_Silent_p.L483L|EXD2_ENST00000409675.1_Silent_p.L483L|EXD2_ENST00000449989.1_Silent_p.L483L|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000409242.1_Silent_p.L483L	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	608							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						ATCAGAAGCTGCTCCGGAAAT	0.567																																						ENST00000409014.1																			0				breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						c.(1447-1449)ctG>ctC		exonuclease 3'-5' domain containing 2							52	47	49					14																	69707775		2203	4300	6503	SO:0001819	synonymous_variant	0				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr14:69707775G>C	AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 114", "exonuclease 3'-5' domain-like 2"	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.1824G>C	14.37:g.69707775G>C						EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000449989.1_Silent_p.L483L|EXD2_ENST00000409675.1_Silent_p.L483L|RP11-363J20.2_ENST00000556316.1_lincRNA|EXD2_ENST00000409949.1_Silent_p.L483L|EXD2_ENST00000312994.5_Silent_p.L608L|EXD2_ENST00000409018.3_Silent_p.L608L|EXD2_ENST00000409242.1_Silent_p.L483L	p.L483L	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN			11	2106	+			483					B4DIH6|G5E947|Q6AWB6|Q8N3D3	Silent	SNP	ENST00000409018.3	37	c.1449G>C	CCDS53902.1																																																																																				0.567	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000335504.1			3	61	0	0	0	1	0	3	61					C	69707775	G	C	69707775	2	2	435	1	0	0	0	0	0	0	0	1	5298	1306	46	4		4	EXD2	14	69707775	Silent	SNP	G	TCGA-FY-A3R9-01A-11D-A21Z-08		69707775	37641765	22	8907											
ZFP106	64397	broad.mit.edu	37	chr15	42734502	42734502	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccagaaaaagtgggaaaaAgggagtgggcagcagtgcgg	17	6	0	1			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr15:42734502A>G	ENST00000263805.4	-	7	3789	c.3463T>C	c.(3463-3465)Ttt>Ctt	p.F1155L	ZNF106_ENST00000565380.1_Missense_Mutation_p.F383L|ZNF106_ENST00000565611.1_Missense_Mutation_p.F340L	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1155					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										AGTGGGAAAAAGGGAGTGGGC	0.522																																						ENST00000263805.4																			0											c.(3463-3465)Ttt>Ctt		zinc finger protein 106							129	121	124					15																	42734502		2203	4299	6502	SO:0001583	missense	64397							g.chr15:42734502A>G	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"Zinc fingers, C2H2-type"	12886	protein-coding gene	gene with protein product	"SH3-domain binding protein 3"		"zinc finger protein 106 homolog (mouse)"	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.3463T>C	15.37:g.42734502A>G	ENSP00000263805:p.Phe1155Leu					ZNF106_ENST00000565611.1_Missense_Mutation_p.F340L|ZNF106_ENST00000565380.1_Missense_Mutation_p.F383L	p.F1155L	NM_022473.1	NP_071918.1					7	3789	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.3463T>C	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	A	13.03	2.114667	0.37339	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	T	0.56103	0.48	5.44	1.91	0.25777	.	0.642064	0.16308	N	0.220159	T	0.22244	0.0536	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.0;0.002;0.0	T	0.15378	-1.0439	10	0.42905	T	0.14	-5.0294	5.3182	0.15866	0.6478:0.1378:0.2144:0.0	.	383;1155;383	E9PE29;Q9H2Y7;B4DZ40	.;ZF106_HUMAN;.	L	1155;383	ENSP00000263805:F1155L	ENSP00000263805:F1155L	F	-	1	0	ZFP106	40521794	0.053000	0.20554	0.030000	0.17652	0.872000	0.50106	0.205000	0.17356	0.167000	0.19631	-0.256000	0.11100	TTT		0.522	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		3	111	0	0	0	1	0	3	111					G	42734502	A	G	42734502	3	3	435	1	0	0	0	0	1	0	0	0	17634	72	3	3	2240	3	ZFP106	15	42734502	Missense_Mutation	SNP	A	TCGA-FY-A3R9-01A-11D-A21Z-08		42734502	59796890	23	8908											
SLCO3A1	28232	broad.mit.edu	37	chr15	92706034	92706034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctggcatcgactccacctGcctgttctggagcacgttct	11	14	2	0			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr15:92706034G>A	ENST00000318445.6	+	10	2016	c.1802G>A	c.(1801-1803)tGc>tAc	p.C601Y	RP11-24J19.1_ENST00000557683.1_RNA|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.C601Y|RP11-152L20.3_ENST00000561674.1_RNA|SLCO3A1_ENST00000555549.1_3'UTR	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	601					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	GACTCCACCTGCCTGTTCTGG	0.572																																						ENST00000318445.6																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25						c.(1801-1803)tGc>tAc		solute carrier organic anion transporter family, member 3A1							72	58	63					15																	92706034		2198	4298	6496	SO:0001583	missense	28232				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	g.chr15:92706034G>A	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"Solute carriers"	10952	protein-coding gene	gene with protein product		612435	"solute carrier family 21 (organic anion transporter), member 11"	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.1802G>A	15.37:g.92706034G>A	ENSP00000320634:p.Cys601Tyr					RP11-24J19.1_ENST00000557683.1_RNA|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.C601Y|SLCO3A1_ENST00000555549.1_3'UTR|RP11-152L20.3_ENST00000561674.1_RNA	p.C601Y	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)		10	2016	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		601					A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	ENST00000318445.6	37	c.1802G>A	CCDS10371.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.862017	0.71949	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000555549	T;T	0.78481	-1.18;-1.18	5.65	4.73	0.59995	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.91656	0.7363	H	0.95079	3.62	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	D	0.94278	0.7517	10	0.87932	D	0	.	16.7137	0.85392	0.0:0.1293:0.8707:0.0	.	543;601;601	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	Y	601;601;320	ENSP00000320634:C601Y;ENSP00000387846:C601Y	ENSP00000320634:C601Y	C	+	2	0	SLCO3A1	90507038	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.195000	0.94971	1.366000	0.46076	0.655000	0.94253	TGC		0.572	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		4	90	0	0	0	1	0	4	90					A	92706034	G	A	92706034	3	1	435	1	0	0	0	0	1	0	0	0	14728	1319	46	2	1840	2	SLCO3A1	15	92706034	Missense_Mutation	SNP	G	TCGA-FY-A3R9-01A-11D-A21Z-08	49971532	92706034	9825358	24	8909											
PHLPP2	23035	broad.mit.edu	37	chr16	71683236	71683236	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtgagttctccagatcccTccccctgcagcagtggatgt	12	13	1	2			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr16:71683236T>C	ENST00000568954.1	-	19	3907	c.3529A>G	c.(3529-3531)Agg>Ggg	p.R1177G	PHLPP2_ENST00000393524.2_Missense_Mutation_p.R1110G|PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000356272.3_Missense_Mutation_p.R1177G|PHLPP2_ENST00000567016.1_Missense_Mutation_p.R1212G|PHLPP2_ENST00000360429.3_Intron			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	1177					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TCCAGATCCCTCCCCCTGCAG	0.542																																						ENST00000393524.2																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(3328-3330)Agg>Ggg		PH domain and leucine rich repeat protein phosphatase 2							74	70	71					16																	71683236		2198	4300	6498	SO:0001583	missense	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71683236T>C	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	29149	protein-coding gene	gene with protein product		611066	"PH domain and leucine rich repeat protein phosphatase-like"	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.3529A>G	16.37:g.71683236T>C	ENSP00000457991:p.Arg1177Gly					PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000356272.3_Missense_Mutation_p.R1177G|PHLPP2_ENST00000567016.1_Missense_Mutation_p.R1212G|PHLPP2_ENST00000568954.1_Missense_Mutation_p.R1177G	p.R1110G			Q6ZVD8	PHLP2_HUMAN			17	4061	-			1177					A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	c.3328A>G	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	T	3.552	-0.091485	0.07053	.	.	ENSG00000040199	ENST00000356272;ENST00000393524	T;T	0.46819	1.39;0.86	6.03	1.01	0.19927	.	0.269566	0.40222	N	0.001158	T	0.36358	0.0964	L	0.44542	1.39	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.31668	-0.9935	10	0.72032	D	0.01	-4.2487	8.8001	0.34903	0.0:0.0637:0.3629:0.5733	.	1110;1177	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	G	1177;1110	ENSP00000348611:R1177G;ENSP00000377159:R1110G	ENSP00000348611:R1177G	R	-	1	2	PHLPP2	70240737	0.010000	0.17322	0.012000	0.15200	0.090000	0.18270	0.258000	0.18387	-0.105000	0.12132	-0.291000	0.09656	AGG		0.542	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		3	108	0	0	0	1	0	3	108					C	71683236	T	C	71683236	3	2	435	1	0	0	0	0	1	0	0	0	11855	1550	54	3	446	3	PHLPP2	16	71683236	Missense_Mutation	SNP	T	TCGA-FY-A3R9-01A-11D-A21Z-08		71683236	18671517	25	8910											
SREBF1	6720	broad.mit.edu	37	chr17	17721595	17721595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttttgtggacagcagtgcGcagacttaggttctcctgct	12	10	1	1			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr17:17721595G>A	ENST00000261646.5	-	6	1346	c.1162C>T	c.(1162-1164)Cgc>Tgc	p.R388C	SREBF1_ENST00000395757.1_Missense_Mutation_p.R134C|SREBF1_ENST00000583732.1_5'Flank|SREBF1_ENST00000338854.5_Missense_Mutation_p.R388C|SREBF1_ENST00000435530.2_Missense_Mutation_p.R388C|SREBF1_ENST00000355815.4_Missense_Mutation_p.R418C	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	388	Interaction with LMNA. {ECO:0000250}.|Leucine-zipper.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						ACAGCAGTGCGCAGACTTAGG	0.542																																						ENST00000355815.4																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						c.(1252-1254)Cgc>Tgc		sterol regulatory element binding transcription factor 1							134	109	118					17																	17721595		2203	4300	6503	SO:0001583	missense	6720				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding	g.chr17:17721595G>A	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"Basic helix-loop-helix proteins"	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.1162C>T	17.37:g.17721595G>A	ENSP00000261646:p.Arg388Cys					SREBF1_ENST00000261646.5_Missense_Mutation_p.R388C|SREBF1_ENST00000395757.1_Missense_Mutation_p.R134C|SREBF1_ENST00000338854.5_Missense_Mutation_p.R388C|SREBF1_ENST00000435530.2_Missense_Mutation_p.R388C	p.R418C	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN			7	1421	-			388			Interaction with LMNA (By similarity).		B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	ENST00000261646.5	37	c.1252C>T	CCDS11189.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.3|26.3	4.725971|4.725971	0.89298|0.89298	.|.	.|.	ENSG00000072310|ENSG00000072310	ENST00000395751|ENST00000338854;ENST00000355815;ENST00000261646;ENST00000395757;ENST00000418712;ENST00000423161;ENST00000435530	.|T;T;T;T;T	.|0.79141	.|0.47;0.48;0.48;0.92;-1.24	5.13|5.13	4.1|4.1	0.47936|0.47936	.|Helix-loop-helix DNA-binding (2);	.|0.066648	.|0.64402	.|D	.|0.000005	D|D	0.82692|0.82692	0.5092|0.5092	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.72338	.|0.977;0.96;0.912;0.959	D|D	0.83619|0.83619	0.0138|0.0138	5|10	.|0.87932	.|D	.|0	-19.4068|-19.4068	10.314|10.314	0.43725|0.43725	0.0:0.0:0.5691:0.4309|0.0:0.0:0.5691:0.4309	.|.	.|388;364;388;418	.|B0I4X3;B0I4X4;P36956;P36956-4	.|.;.;SRBP1_HUMAN;.	V|C	395|388;418;388;134;225;314;388	.|ENSP00000345822:R388C;ENSP00000348069:R418C;ENSP00000261646:R388C;ENSP00000379106:R134C;ENSP00000413389:R388C	.|ENSP00000261646:R388C	A|R	-|-	2|1	0|0	SREBF1|SREBF1	17662320|17662320	1.000000|1.000000	0.71417|0.71417	0.962000|0.962000	0.40283|0.40283	0.946000|0.946000	0.59487|0.59487	5.568000|5.568000	0.67385|0.67385	2.402000|2.402000	0.81655|0.81655	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.542	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176		4	121	0	0	0	1	0	4	121					A	17721595	G	A	17721595	3	1	435	1	0	0	0	0	1	0	0	0	15140	1087	38	1	2337	1	SREBF1	17	17721595	Missense_Mutation	SNP	G	TCGA-FY-A3R9-01A-11D-A21Z-08		17721595	63473615	26	8911											
RAB5C	5878	broad.mit.edu	37	chr17	40282394	40282394	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtactcgtgaaactgtccctTgacaaagcggaggacgaggc	13	10	0	2			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr17:40282394T>G	ENST00000346213.4	-	2	339	c.127A>C	c.(127-129)Aag>Cag	p.K43Q	RAB5C_ENST00000547517.1_Missense_Mutation_p.K76Q|CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.K43Q|RAB5C_ENST00000393860.3_Missense_Mutation_p.K43Q	NM_004583.3	NP_004574.2	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	43					endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|plasma membrane to endosome transport (GO:0048227)|protein transport (GO:0015031)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		AACTGTCCCTTGACAAAGCGG	0.547																																						ENST00000393860.3																			0				large_intestine(1)|lung(4)|prostate(1)|skin(1)	7						c.(127-129)Aag>Cag		RAB5C, member RAS oncogene family							98	83	88					17																	40282394		2203	4300	6503	SO:0001583	missense	5878				protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr17:40282394T>G	U18420	CCDS11419.1, CCDS58551.1	17q21.2	2013-02-15			ENSG00000108774	ENSG00000108774		"RAB, member RAS oncogene"	9785	protein-coding gene	gene with protein product	"RAB, member of RAS oncogene family-like", "RAB5C, member of RAS oncogene family"	604037		RABL		8646882	Standard	NM_004583		Approved	RAB5CL	uc010cxx.3	P51148	OTTHUMG00000169703	ENST00000346213.4:c.127A>C	17.37:g.40282394T>G	ENSP00000345689:p.Lys43Gln					CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.K43Q|RAB5C_ENST00000346213.4_Missense_Mutation_p.K43Q|RAB5C_ENST00000547517.1_Missense_Mutation_p.K76Q	p.K43Q	NM_201434.2	NP_958842.1	P51148	RAB5C_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.128)	3	443	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	43					F8W1H5|Q6FH55|Q9P0Y5	Missense_Mutation	SNP	ENST00000346213.4	37	c.127A>C	CCDS11419.1	.	.	.	.	.	.	.	.	.	.	T	19.44	3.827569	0.71143	.	.	ENSG00000108774	ENST00000346213;ENST00000393860;ENST00000547517;ENST00000552162;ENST00000550504;ENST00000550406	T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	4.86	4.86	0.63082	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.74061	0.3667	N	0.03983	-0.305	0.80722	D	1	P;D	0.59357	0.941;0.985	P;D	0.69824	0.807;0.966	T	0.81398	-0.0951	10	0.62326	D	0.03	-24.8243	14.6261	0.68621	0.0:0.0:0.0:1.0	.	76;43	F8W1H5;P51148	.;RAB5C_HUMAN	Q	43;43;76;43;43;43	ENSP00000345689:K43Q;ENSP00000377440:K43Q;ENSP00000447053:K76Q;ENSP00000449612:K43Q;ENSP00000449777:K43Q;ENSP00000448314:K43Q	ENSP00000345689:K43Q	K	-	1	0	RAB5C	37535920	1.000000	0.71417	1.000000	0.80357	0.478000	0.33099	7.868000	0.87116	2.039000	0.60335	0.383000	0.25322	AAG		0.547	RAB5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405509.1	NM_004583		23	94	0	0	0	1	0	23	94					G	40282394	T	G	40282394	3	3	435	1	0	0	0	0	1	0	0	0	12950	1821	63	5	543	5	RAB5C	17	40282394	Missense_Mutation	SNP	T	TCGA-FY-A3R9-01A-11D-A21Z-08	22560799	40282394	40912816	27	8912											
FMNL1	752	broad.mit.edu	37	chr17	43318854	43318854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcggccctggagctgaagGtggaggagctggaggagaag	19	8	0	2			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr17:43318854G>A	ENST00000331495.3	+	14	1774	c.1438G>A	c.(1438-1440)Gtg>Atg	p.V480M	FMNL1_ENST00000328118.3_Missense_Mutation_p.V480M|CTD-2020K17.3_ENST00000587534.1_RNA|CTD-2020K17.3_ENST00000393507.2_RNA|FMNL1_ENST00000587489.1_Missense_Mutation_p.V58M	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	480	Pro-rich.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GGAGCTGAAGGTGGAGGAGCT	0.682																																					GBM(164;1247 1997 8702 11086 51972)	ENST00000331495.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						c.(1438-1440)Gtg>Atg		formin-like 1							13	8	10					17																	43318854		2093	4123	6216	SO:0001583	missense	752				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr17:43318854G>A	AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"formin-like"	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.1438G>A	17.37:g.43318854G>A	ENSP00000329219:p.Val480Met					FMNL1_ENST00000587489.1_Missense_Mutation_p.V58M|CTD-2020K17.3_ENST00000587534.1_RNA|FMNL1_ENST00000328118.3_Missense_Mutation_p.V480M	p.V480M	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN			14	1774	+			480			Pro-rich.		D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	ENST00000331495.3	37	c.1438G>A	CCDS11497.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.892971	0.52121	.	.	ENSG00000184922	ENST00000328118;ENST00000331495;ENST00000539884	T;T	0.80033	-1.33;-1.33	4.45	0.94	0.19513	.	0.416849	0.23330	N	0.049356	T	0.62368	0.2422	L	0.34521	1.04	0.33355	D	0.571547	B	0.29716	0.255	B	0.28305	0.088	T	0.56288	-0.8004	10	0.23891	T	0.37	.	2.2943	0.04146	0.1113:0.3288:0.3669:0.193	.	480	O95466	FMNL_HUMAN	M	480;480;198	ENSP00000327442:V480M;ENSP00000329219:V480M	ENSP00000327442:V480M	V	+	1	0	FMNL1	40674637	0.826000	0.29277	1.000000	0.80357	0.887000	0.51463	0.000000	0.12993	0.822000	0.34565	0.407000	0.27541	GTG		0.682	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892		3	4	0	0	0	1	0	3	4					A	43318854	G	A	43318854	3	1	435	1	0	0	0	0	1	0	0	0	5951	1261	44	2	1492	2	FMNL1	17	43318854	Missense_Mutation	SNP	G	TCGA-FY-A3R9-01A-11D-A21Z-08	3036460	43318854	37876356	28	8913											
SERPINB4	6318	broad.mit.edu	37	chr18	61309074	61309074	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcagtggatttgttgaattCagtcagaagcttttgaaact	9	5	3	3			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr18:61309074C>T	ENST00000341074.5	-	4	386	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	SERPINB4_ENST00000356424.6_Missense_Mutation_p.E91K	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	91					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TTGTTGAATTCAGTCAGAAGC	0.383																																						ENST00000341074.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(271-273)Gaa>Aaa		serpin peptidase inhibitor, clade B (ovalbumin), member 4							147	139	142					18																	61309074		2203	4297	6500	SO:0001583	missense	6318							g.chr18:61309074C>T	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"Serine (or cysteine) peptidase inhibitors"	10570	protein-coding gene	gene with protein product	"squamous cell carcinoma antigen 2"	600518	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.271G>A	18.37:g.61309074C>T	ENSP00000343445:p.Glu91Lys					SERPINB4_ENST00000356424.6_Missense_Mutation_p.E91K	p.E91K	NM_002974.2	NP_002965.1					4	386	-								A8K847	Missense_Mutation	SNP	ENST00000341074.5	37	c.271G>A	CCDS11986.1	.	.	.	.	.	.	.	.	.	.	C	7.697	0.692238	0.15039	.	.	ENSG00000206073	ENST00000341074;ENST00000356424	D;D	0.84146	-1.81;-1.81	3.76	1.89	0.25635	Serpin domain (3);	0.329725	0.21785	N	0.069146	T	0.81394	0.4813	L	0.39692	1.235	0.22835	N	0.998674	B;P	0.44195	0.167;0.828	B;P	0.48524	0.172;0.58	T	0.71849	-0.4468	10	0.54805	T	0.06	.	7.5233	0.27641	0.0:0.7263:0.1753:0.0984	.	91;91	P48594;Q9BYF7	SPB4_HUMAN;.	K	91	ENSP00000343445:E91K;ENSP00000348795:E91K	ENSP00000343445:E91K	E	-	1	0	SERPINB4	59460054	0.000000	0.05858	0.129000	0.21949	0.266000	0.26442	0.333000	0.19768	0.352000	0.24053	-0.199000	0.12753	GAA		0.383	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		41	115	0	0	0	1	0	41	115					T	61309074	C	T	61309074	3	4	435	1	0	0	0	0	1	0	0	0	14103	835	29	2	921	2	SERPINB4	18	61309074	Missense_Mutation	SNP	C	TCGA-FY-A3R9-01A-11D-A21Z-08		61309074	16768174	29	8914											
SERPINB3	6317	broad.mit.edu	37	chr18	61326713	61326713	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcagtggatttgttgaattCagtcagaagcttttgaaact	9	5	3	3			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr18:61326713C>T	ENST00000283752.5	-	4	414	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	SERPINB3_ENST00000332821.8_Missense_Mutation_p.E91K|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	91					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TTGTTGAATTCAGTCAGAAGC	0.373																																						ENST00000283752.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						c.(271-273)Gaa>Aaa		serpin peptidase inhibitor, clade B (ovalbumin), member 3							123	124	124					18																	61326713		2203	4297	6500	SO:0001583	missense	6317				regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61326713C>T	U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"Serine (or cysteine) peptidase inhibitors"	10569	protein-coding gene	gene with protein product		600517	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.271G>A	18.37:g.61326713C>T	ENSP00000283752:p.Glu91Lys					SERPINB3_ENST00000332821.8_Missense_Mutation_p.E91K|SERPINB11_ENST00000489748.1_RNA	p.E91K	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN			4	414	-			91					A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Missense_Mutation	SNP	ENST00000283752.5	37	c.271G>A	CCDS11987.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061055	0.55432	.	.	ENSG00000057149	ENST00000283752;ENST00000332821	D;D	0.84146	-1.81;-1.81	3.13	1.24	0.21308	Serpin domain (3);	0.329725	0.21785	N	0.069146	T	0.79341	0.4429	L	0.41124	1.26	0.09310	N	1	P;P;P;P	0.46064	0.704;0.635;0.872;0.872	B;B;B;P	0.45660	0.354;0.347;0.354;0.489	T	0.70439	-0.4871	10	0.59425	D	0.04	.	7.3552	0.26714	0.0:0.72:0.1781:0.1018	.	91;91;91;91	A8K847;P29508-2;P29508;Q5K684	.;.;SPB3_HUMAN;.	K	91	ENSP00000283752:E91K;ENSP00000329498:E91K	ENSP00000283752:E91K	E	-	1	0	SERPINB3	59477693	0.001000	0.12720	0.004000	0.12327	0.547000	0.35210	0.725000	0.25970	0.325000	0.23359	0.455000	0.32223	GAA		0.373	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919		13	151	0	0	0	1	0	13	151					T	61326713	C	T	61326713	3	4	435	1	0	0	0	0	1	0	0	0	14102	835	29	2	921	2	SERPINB3	18	61326713	Missense_Mutation	SNP	C	TCGA-FY-A3R9-01A-11D-A21Z-08	17639	61326713	16750535	30	8915											
SIGLEC6	946	broad.mit.edu	37	chr19	52023341	52023341	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctttggacaattcctcactTgtgtatcttgatttctgagt	8	8	3	2			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr19:52023341T>A	ENST00000425629.3	-	8	1511	c.1357A>T	c.(1357-1359)Aag>Tag	p.K453*	SIGLEC6_ENST00000391797.3_3'UTR|SIGLEC6_ENST00000343300.4_3'UTR|CTD-3073N11.9_ENST00000598220.1_RNA|SIGLEC6_ENST00000359982.4_3'UTR|SIGLEC6_ENST00000346477.3_Nonsense_Mutation_p.K437*|SIGLEC6_ENST00000436458.1_Nonsense_Mutation_p.K401*|SIGLEC6_ENST00000474054.1_5'UTR	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	453					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		ATTCCTCACTTGTGTATCTTG	0.478																																						ENST00000346477.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28						c.(1309-1311)Aag>Tag		sialic acid binding Ig-like lectin 6							122	119	120					19																	52023341		1968	4144	6112	SO:0001587	stop_gained	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52023341T>A	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.1357A>T	19.37:g.52023341T>A	ENSP00000401502:p.Lys453*					CTD-3073N11.9_ENST00000598220.1_RNA|SIGLEC6_ENST00000474054.1_5'UTR|SIGLEC6_ENST00000343300.4_3'UTR|SIGLEC6_ENST00000436458.1_Nonsense_Mutation_p.K401*|SIGLEC6_ENST00000391797.3_3'UTR|SIGLEC6_ENST00000359982.4_3'UTR|SIGLEC6_ENST00000425629.3_Nonsense_Mutation_p.K453*	p.K437*	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	7	1377	-		all_neural(266;0.0199)	453					A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Nonsense_Mutation	SNP	ENST00000425629.3	37	c.1309A>T	CCDS12834.3	.	.	.	.	.	.	.	.	.	.	.	17.90	3.501032	0.64298	.	.	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000436458	.	.	.	2.45	1.39	0.22231	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.4434	0.11586	0.0:0.1683:0.0:0.8317	.	.	.	.	X	426;437;453;401	.	ENSP00000344064:K426X	K	-	1	0	SIGLEC6	56715153	0.005000	0.15991	0.007000	0.13788	0.065000	0.16274	-0.560000	0.05964	0.337000	0.23665	0.496000	0.49642	AAG		0.478	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		8	114	0	0	0	1	0	8	114					A	52023341	T	A	52023341	4	1	435	1	0	0	0	0	0	1	0	0	14312	1821	63	5	8	5	SIGLEC6	19	52023341	Nonsense_Mutation	SNP	T	TCGA-FY-A3R9-01A-11D-A21Z-08		52023341	7105642	31	8916											
FAM47C	442444	broad.mit.edu	37	chrX	37027156	37027156	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagtgtcccatctccgcccaCagcctcccaagactcaggtg	9	17	2	1	rs368685662		TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chrX:37027156C>G	ENST00000358047.3	+	1	725	c.673C>G	c.(673-675)Cag>Gag	p.Q225E		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	225										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCTCCGCCCACAGCCTCCCAA	0.647																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(673-675)Cag>Gag		family with sequence similarity 47, member C							41	41	41					X																	37027156		2202	4298	6500	SO:0001583	missense	442444							g.chrX:37027156C>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.673C>G	X.37:g.37027156C>G	ENSP00000367913:p.Gln225Glu						p.Q225E	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	725	+			225					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.673C>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.683783	0.00101	.	.	ENSG00000198173	ENST00000358047	T	0.12672	2.66	0.96	0.96	0.19631	.	.	.	.	.	T	0.01870	0.0059	N	0.00114	-2.085	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37337	-0.9710	9	0.02654	T	1	.	2.8694	0.05611	0.2407:0.2933:0.466:0.0	.	225	Q5HY64	FA47C_HUMAN	E	225	ENSP00000367913:Q225E	ENSP00000367913:Q225E	Q	+	1	0	FAM47C	36937077	0.000000	0.05858	0.016000	0.15963	0.016000	0.09150	-3.060000	0.00624	-1.049000	0.03234	-1.043000	0.02367	CAG		0.647	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		4	158	0	0	0	1	0	4	158					G	37027156	C	G	37027156	3	3	435	1	0	0	0	0	1	0	0	0	5571	479	17	4	675	4	FAM47C	23	37027156	Missense_Mutation	SNP	C	TCGA-FY-A3R9-01A-11D-A21Z-08		37027156	118243404	32	8917											
FHL1	2273	broad.mit.edu	37	chrX	135288575	135288575	+	5'UTR	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcccccgcaggtccctccaGctacaaggtgggcaccatgg	12	16	0	0			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chrX:135288575G>T	ENST00000345434.3	+	0	65				FHL1_ENST00000394155.2_5'UTR|FHL1_ENST00000543669.1_5'UTR|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000535737.1_5'UTR|FHL1_ENST00000370683.1_Missense_Mutation_p.S11I|FHL1_ENST00000370690.3_5'UTR|FHL1_ENST00000539015.1_Missense_Mutation_p.S24I|FHL1_ENST00000370676.3_Missense_Mutation_p.S11I|FHL1_ENST00000394153.2_5'UTR			Q13642	FHL1_HUMAN	four and a half LIM domains 1						cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|organ morphogenesis (GO:0009887)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane depolarization (GO:0003254)|regulation of potassium ion transmembrane transporter activity (GO:1901016)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel binding (GO:0044325)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					GGTCCCTCCAGCTACAAGGTG	0.592																																						ENST00000370683.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(31-33)aGc>aTc		four and a half LIM domains 1							106	100	102					X																	135288575		2203	4300	6503	SO:0001623	5_prime_UTR_variant	2273				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding	g.chrX:135288575G>T	U60115	CCDS14655.1, CCDS55505.1, CCDS55506.1, CCDS55507.1, CCDS76036.1	Xq26.3	2014-09-17			ENSG00000022267	ENSG00000022267			3702	protein-coding gene	gene with protein product	"Four-and-a-half LIM domains 1", "LIM protein SLIMMER"	300163				8753811, 9714789	Standard	NM_001449		Approved	SLIM1, KYO-T, bA535K18.1, FHL1B, XMPMA, FLH1A, MGC111107	uc004ezo.3	Q13642	OTTHUMG00000022504	ENST00000345434.3:c.-17G>T	X.37:g.135288575G>T						FHL1_ENST00000370690.3_5'UTR|FHL1_ENST00000345434.3_5'UTR|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000543669.1_5'UTR|FHL1_ENST00000535737.1_5'UTR|FHL1_ENST00000539015.1_Missense_Mutation_p.S24I|FHL1_ENST00000394153.2_5'UTR|FHL1_ENST00000370676.3_Missense_Mutation_p.S11I|FHL1_ENST00000394155.2_5'UTR	p.S11I	NM_001159699.1	NP_001153171.1	Q13642	FHL1_HUMAN			2	372	+	Acute lymphoblastic leukemia(192;0.000127)		0					B7Z5T4|B7Z793|O95212|Q13230|Q13645|Q5JXI7|Q5M7Y6|Q6IB30|Q9NZ40|Q9UKZ8|Q9Y630	Missense_Mutation	SNP	ENST00000345434.3	37	c.32G>T	CCDS55507.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.564826	0.45694	.	.	ENSG00000022267	ENST00000456218;ENST00000539015;ENST00000370683;ENST00000370676;ENST00000542704	T;T;T	0.62232	0.04;0.08;0.24	5.73	4.81	0.61882	.	.	.	.	.	T	0.49115	0.1538	L	0.45352	1.415	0.58432	D	0.999991	B;B	0.18310	0.027;0.007	B;B	0.17722	0.019;0.003	T	0.38156	-0.9674	9	0.13853	T	0.58	.	8.8522	0.35206	0.0799:0.1471:0.773:0.0	.	24;11	B7Z793;B7Z5T4	.;.	I	35;24;11;11;11	ENSP00000437673:S24I;ENSP00000359717:S11I;ENSP00000359710:S11I	ENSP00000359710:S11I	S	+	2	0	FHL1	135116241	1.000000	0.71417	0.777000	0.31699	0.939000	0.58152	3.558000	0.53749	2.396000	0.81511	0.600000	0.82982	AGC		0.592	FHL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058461.1	NM_001449		14	251	1	0	3.41278e-10	1	3.77584e-10	14	251					T	135288575	G	T	135288575	1	4	435	0	1	0	0	0	0	0	0	0	5878	971	34	4		4	FHL1	23	135288575	5'UTR	SNP	G	TCGA-FY-A3R9-01A-11D-A21Z-08	98261419	135288575	19981985	33	8918											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	24	0	0	3			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		3	84	0	0	0	1	0	3	84					A	150156360	G	A	150156360	2	1	435	1	0	0	0	0	0	0	0	1	7227	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-FY-A3R9-01A-11D-A21Z-08	14867785	150156360	5114200	34	8919											
ZC3H11A	9877	broad.mit.edu	37	chr1	203821424	203821424	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatgattttgagaaactaaTatgggagatttcaggaggca	13	3	1	3			TCGA-FY-A3RA-01A-11D-A21Z-08	TCGA-FY-A3RA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7fad7a4-5d3f-498e-b059-31b2a9317507	ca01a0ac-d4f6-4e1e-9620-7f0b668609d7	g.chr1:203821424T>C	ENST00000545588.1	+	17	6157	c.2330T>C	c.(2329-2331)aTa>aCa	p.I777T	ZC3H11A_ENST00000367214.1_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.I777T|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.I777T	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	777					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAGAAACTAATATGGGAGATT	0.473																																						ENST00000545588.1																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(2329-2331)aTa>aCa		zinc finger CCCH-type containing 11A							55	56	56					1																	203821424		2203	4300	6503	SO:0001583	missense	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203821424T>C		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"Zinc fingers, CCCH-type domain containing"	29093	protein-coding gene	gene with protein product		613513	"zinc finger CCCH-type domain containing 11A"	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.2330T>C	1.37:g.203821424T>C	ENSP00000438527:p.Ile777Thr					ZC3H11A_ENST00000367212.3_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.I777T|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.I777T	p.I777T	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		17	6157	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		777					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	ENST00000545588.1	37	c.2330T>C	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	T	11.48	1.650267	0.29336	.	.	ENSG00000058673	ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.61540	0.2355	M	0.77103	2.36	0.50467	D	0.999873	B	0.18461	0.028	B	0.24269	0.052	T	0.60454	-0.7260	10	0.46703	T	0.11	-25.6355	14.9374	0.70967	0.0:0.0:0.0:1.0	.	777	O75152	ZC11A_HUMAN	T	777;723;777;777;777;777	ENSP00000356183:I777T;ENSP00000356181:I777T;ENSP00000333253:I777T;ENSP00000438527:I777T;ENSP00000356179:I777T	ENSP00000333253:I777T	I	+	2	0	ZC3H11A	202088047	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	6.379000	0.73154	2.171000	0.68590	0.528000	0.53228	ATA		0.473	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		3	68	0	0	0	1	0	3	68					C	203821424	T	C	203821424	3	2	436	1	0	0	0	0	1	0	0	0	17557	1406	49	3	2392	3	ZC3H11A	1	203821424	Missense_Mutation	SNP	T	TCGA-FY-A3RA-01A-11D-A21Z-08		203821424	45429197	1	8920											
NCAPG	64151	broad.mit.edu	37	chr4	17843932	17843932	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgaattatactatcttcaaGgacagagaaaagtgacagtt	8	5	2	3			TCGA-FY-A3RA-01A-11D-A21Z-08	TCGA-FY-A3RA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7fad7a4-5d3f-498e-b059-31b2a9317507	ca01a0ac-d4f6-4e1e-9620-7f0b668609d7	g.chr4:17843932G>T	ENST00000251496.2	+	20	3030		c.e20-1		LCORL_ENST00000326877.4_3'UTR	NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G						mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		CTATCTTCAAGGACAGAGAAA	0.368																																						ENST00000251496.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27						c.e20-1		non-SMC condensin I complex, subunit G							80	78	78					4																	17843932		2203	4299	6502	SO:0001630	splice_region_variant	64151				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding	g.chr4:17843932G>T	AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"chromosome condensation protein G"	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.2855-1G>T	4.37:g.17843932G>T								NM_022346.3	NP_071741.2	Q9BPX3	CND3_HUMAN		STAD - Stomach adenocarcinoma(129;0.18)	20	3030	+								Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Splice_Site	SNP	ENST00000251496.2	37		CCDS3424.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.548395	0.27652	.	.	ENSG00000109805	ENST00000251496	.	.	.	5.45	4.6	0.57074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1928	0.54280	0.0:0.1707:0.8293:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NCAPG	17453030	1.000000	0.71417	1.000000	0.80357	0.200000	0.23975	4.619000	0.61218	1.521000	0.48983	0.655000	0.94253	.		0.368	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	NM_022346	Intron	3	76	1	0	0.150653	1	0.150653	3	76					T	17843932	G	T	17843932	5	4	436	1	0	0	0	0	0	0	1	0	10207	1014	35	4	2932	4	NCAPG	4	17843932	Splice_Site	SNP	G	TCGA-FY-A3RA-01A-11D-A21Z-08		17843932	173310344	2	8921											
OTUD4	54726	broad.mit.edu	37	chr4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-													aggtttaaatccattcacatCagcagcagcagcagcagtct					rs150581210		TCGA-FY-A3RA-01A-11D-A21Z-08	TCGA-FY-A3RA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7fad7a4-5d3f-498e-b059-31b2a9317507	ca01a0ac-d4f6-4e1e-9620-7f0b668609d7	g.chr4:146077123_146077125delCAG	ENST00000447906.2	-	8	840_842	c.653_655delCTG	c.(652-657)gctgat>gat	p.A218del	OTUD4_ENST00000454497.2_In_Frame_Del_p.A153del|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	218					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.34																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(457-462)gat>g		OTU domain containing 4																																				SO:0001651	inframe_deletion	54726						protein binding	g.chr4:146077123_146077125delCAG		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.653_655delCTG	4.37:g.146077132_146077134delCAG	ENSP00000395487:p.Ala218del					OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del|OTUD4_ENST00000455611.2_5'UTR	p.AD153del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			8	595_597	-	all_hematologic(180;0.151)		218			OTU.		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	In_Frame_Del	DEL	ENST00000447906.2	37	c.458_460delCTG																																																																																					0.34	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		16	141						16	141	---	---	---	---	-	146077125	CAG	-	146077123	7	5	436	1	0	1	0	1	0	0	0	0	11314	826	29	0	2745	0	OTUD4	4	146077123	In_Frame_Del	DEL	CAG	TCGA-FY-A3RA-01A-11D-A21Z-08	128233191	146077123	45077153	3	8922											
NEUROD6	63974	broad.mit.edu	37	chr7	31378167	31378167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcatagaaggattcatacGcactgcaataattgtagggt	9	6	2	1			TCGA-FY-A3RA-01A-11D-A21Z-08	TCGA-FY-A3RA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7fad7a4-5d3f-498e-b059-31b2a9317507	ca01a0ac-d4f6-4e1e-9620-7f0b668609d7	g.chr7:31378167G>A	ENST00000297142.3	-	2	1038	c.716C>T	c.(715-717)gCg>gTg	p.A239V		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	239					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GGATTCATACGCACTGCAATA	0.483																																						ENST00000297142.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(715-717)gCg>gTg		neuronal differentiation 6							86	79	81					7																	31378167		2203	4300	6503	SO:0001583	missense	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378167G>A	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"Basic helix-loop-helix proteins"	13804	protein-coding gene	gene with protein product		611513	"neurogenic differentiation 6"			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.716C>T	7.37:g.31378167G>A	ENSP00000297142:p.Ala239Val						p.A239V	NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN			2	1038	-			239					Q548T9|Q9H3H6	Missense_Mutation	SNP	ENST00000297142.3	37	c.716C>T	CCDS5434.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.292531	0.23564	.	.	ENSG00000164600	ENST00000297142	T	0.64618	-0.11	5.32	4.43	0.53597	Neurogenic differentiation factor, domain of unknown function (1);	0.106309	0.64402	D	0.000006	T	0.51702	0.1690	L	0.28556	0.865	0.45056	D	0.99807	B	0.18610	0.029	B	0.15870	0.014	T	0.46275	-0.9203	10	0.44086	T	0.13	-21.3163	15.9382	0.79734	0.0:0.1355:0.8645:0.0	.	239	Q96NK8	NDF6_HUMAN	V	239	ENSP00000297142:A239V	ENSP00000297142:A239V	A	-	2	0	NEUROD6	31344692	1.000000	0.71417	0.949000	0.38748	0.792000	0.44763	7.541000	0.82084	1.219000	0.43474	-0.181000	0.13052	GCG		0.483	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		4	115	0	0	0	1	0	4	115					A	31378167	G	A	31378167	3	1	436	1	0	0	0	0	1	0	0	0	10351	1087	38	1	301	1	NEUROD6	7	31378167	Missense_Mutation	SNP	G	TCGA-FY-A3RA-01A-11D-A21Z-08		31378167	127760496	4	8923											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FY-A3RA-01A-11D-A21Z-08	TCGA-FY-A3RA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7fad7a4-5d3f-498e-b059-31b2a9317507	ca01a0ac-d4f6-4e1e-9620-7f0b668609d7	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		68	83	0	0	0	1	0	68	83					T	140453136	A	T	140453136	3	4	436	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FY-A3RA-01A-11D-A21Z-08	109074969	140453136	18685527	5	8924											
PBK	55872	broad.mit.edu	37	chr8	27668477	27668479	+	In_Frame_Del	DEL	TCA	TCA	-													tagaaattgtattcatacctTcatcatcatcatcatttgaa					rs116080983		TCGA-FY-A3RA-01A-11D-A21Z-08	TCGA-FY-A3RA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7fad7a4-5d3f-498e-b059-31b2a9317507	ca01a0ac-d4f6-4e1e-9620-7f0b668609d7	g.chr8:27668477_27668479delTCA	ENST00000301905.4	-	7	1231_1233	c.768_770delTGA	c.(766-771)gatgaa>gaa	p.D256del	ESCO2_ENST00000397418.2_Intron|PBK_ENST00000522944.1_In_Frame_Del_p.D267del	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN	PDZ binding kinase	256	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic nuclear division (GO:0007067)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		ATTCATACCTTCATCATCATCAT	0.3																																						ENST00000301905.4																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(766-771)gaa>ga		PDZ binding kinase																																				SO:0001651	inframe_deletion	55872				mitosis		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr8:27668477_27668479delTCA	AB027249	CCDS6063.1, CCDS64858.1	8p21.2	2009-08-06			ENSG00000168078	ENSG00000168078			18282	protein-coding gene	gene with protein product	"T-LAK cell-originated protein kinase", "cancer/testis antigen 84"	611210				10781613, 10779557	Standard	NM_018492		Approved	TOPK, FLJ14385, Nori-3, SPK, CT84	uc003xgi.3	Q96KB5	OTTHUMG00000102113	ENST00000301905.4:c.768_770delTGA	8.37:g.27668486_27668488delTCA	ENSP00000301905:p.Asp256del					PBK_ENST00000522944.1_In_Frame_Del_p.DE267del|ESCO2_ENST00000397418.2_Intron	p.DE256del	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)	7	1231_1233	-		Ovarian(32;0.000953)	256			Protein kinase.		B4DX68|D3DST2|Q9NPD9|Q9NYL7|Q9NZK6	In_Frame_Del	DEL	ENST00000301905.4	37	c.768_770delTGA	CCDS6063.1																																																																																				0.3	PBK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219952.2	NM_018492		7	116						7	116	---	---	---	---	-	27668479	TCA	-	27668477	7	5	436	1	0	1	0	1	0	0	0	0	11488	1783	62	0	206	0	PBK	8	27668477	In_Frame_Del	DEL	TCA	TCGA-FY-A3RA-01A-11D-A21Z-08		27668477	118695545	6	8925											
DENND5A	23258	broad.mit.edu	37	chr11	9199797	9199799	+	In_Frame_Del	DEL	ATC	ATC	-													acccggagtacagggtctttAtcatcatcatcatgacacat					rs371085395		TCGA-FY-A3RA-01A-11D-A21Z-08	TCGA-FY-A3RA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7fad7a4-5d3f-498e-b059-31b2a9317507	ca01a0ac-d4f6-4e1e-9620-7f0b668609d7	g.chr11:9199797_9199799delATC	ENST00000328194.3	-	8	2106_2108	c.1786_1788delGAT	c.(1786-1788)gatdel	p.D596del	DENND5A_ENST00000526523.1_5'Flank|DENND5A_ENST00000530044.1_In_Frame_Del_p.D596del	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	596	Poly-Asp.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CAGGGTCTTTATCATCATCATCA	0.453																																						ENST00000328194.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1786-1788)del		DENN/MADD domain containing 5A																																				SO:0001651	inframe_deletion	23258							g.chr11:9199797_9199799delATC	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"DENN/MADD domain containing"	19344	protein-coding gene	gene with protein product			"RAB6 interacting protein 1"	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.1786_1788delGAT	11.37:g.9199806_9199808delATC	ENSP00000328524:p.Asp596del					DENND5A_ENST00000530044.1_In_Frame_Del_p.D596del	p.D596del	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN			8	2106_2108	-			596			Poly-Asp.		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	In_Frame_Del	DEL	ENST00000328194.3	37	c.1786_1788delGAT	CCDS31423.1																																																																																				0.453	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		7	234						7	234	---	---	---	---	-	9199799	ATC	-	9199797	7	5	436	1	0	1	0	1	0	0	0	0	4436	446	16	0	2139	0	DENND5A	11	9199797	In_Frame_Del	DEL	ATC	TCGA-FY-A3RA-01A-11D-A21Z-08		9199797	125806719	7	8926											
ANAPC5	51433	broad.mit.edu	37	chr12	121764972	121764972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgttctgctgcacgcccGcattcaccgcctccaggctg	10	16	2	0			TCGA-FY-A3RA-01A-11D-A21Z-08	TCGA-FY-A3RA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7fad7a4-5d3f-498e-b059-31b2a9317507	ca01a0ac-d4f6-4e1e-9620-7f0b668609d7	g.chr12:121764972G>A	ENST00000261819.3	-	11	1488	c.1367C>T	c.(1366-1368)gCg>gTg	p.A456V	ANAPC5_ENST00000535482.1_Missense_Mutation_p.A122V|ANAPC5_ENST00000541887.1_Missense_Mutation_p.A443V|ANAPC5_ENST00000344395.4_Missense_Mutation_p.A344V|ANAPC5_ENST00000441917.2_Missense_Mutation_p.A344V|ANAPC5_ENST00000544314.1_5'UTR	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	456					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTGCACGCCCGCATTCACCGC	0.617																																						ENST00000261819.3																			0				breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31						c.(1366-1368)gCg>gTg		anaphase promoting complex subunit 5							89	65	73					12																	121764972		2203	4300	6503	SO:0001583	missense	51433				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr12:121764972G>A	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"Anaphase promoting complex subunits"	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.1367C>T	12.37:g.121764972G>A	ENSP00000261819:p.Ala456Val					ANAPC5_ENST00000535482.1_Missense_Mutation_p.A122V|ANAPC5_ENST00000441917.2_Missense_Mutation_p.A344V|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000541887.1_Missense_Mutation_p.A443V|ANAPC5_ENST00000344395.4_Missense_Mutation_p.A344V	p.A456V	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN			11	1488	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		456					E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	ENST00000261819.3	37	c.1367C>T	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	G	4.493	0.091428	0.08632	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000544314;ENST00000344395	.	.	.	6.07	4.04	0.47022	.	0.387942	0.30686	N	0.009100	T	0.15176	0.0366	N	0.02011	-0.69	0.49130	D	0.999757	B;B;B;B	0.06786	0.001;0.001;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.001	T	0.17592	-1.0364	9	0.05721	T	0.95	.	4.5837	0.12271	0.3837:0.0:0.6163:0.0	.	122;58;344;456	F5H0N1;B4DFK4;E9PFB2;Q9UJX4	.;.;.;APC5_HUMAN	V	344;443;456;122;58;344	.	ENSP00000261819:A456V	A	-	2	0	ANAPC5	120249355	0.987000	0.35691	0.042000	0.18584	0.466000	0.32739	4.675000	0.61619	1.588000	0.49971	0.650000	0.86243	GCG		0.617	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			3	70	0	0	0	1	0	3	70					A	121764972	G	A	121764972	3	1	436	1	0	0	0	0	1	0	0	0	605	1087	38	1	928	1	ANAPC5	12	121764972	Missense_Mutation	SNP	G	TCGA-FY-A3RA-01A-11D-A21Z-08		121764972	12086923	8	8927											
SBNO1	55206	broad.mit.edu	37	chr12	123805029	123805029	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcgataagttcatccagggTattaggggggaggtcttcag	14	6	3	0			TCGA-FY-A3RA-01A-11D-A21Z-08	TCGA-FY-A3RA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7fad7a4-5d3f-498e-b059-31b2a9317507	ca01a0ac-d4f6-4e1e-9620-7f0b668609d7	g.chr12:123805029T>C	ENST00000602398.1	-	19	2744	c.2617A>G	c.(2617-2619)Acc>Gcc	p.T873A	SBNO1_ENST00000602750.1_Missense_Mutation_p.T872A|SBNO1_ENST00000267176.4_Missense_Mutation_p.T872A|SBNO1_ENST00000420886.2_Missense_Mutation_p.T873A			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	873					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TCATCCAGGGTATTAGGGGGG	0.453																																						ENST00000420886.2																			0				NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(2617-2619)Acc>Gcc		strawberry notch homolog 1 (Drosophila)							124	124	124					12																	123805029		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123805029T>C	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.2617A>G	12.37:g.123805029T>C	ENSP00000473665:p.Thr873Ala					SBNO1_ENST00000602750.1_Missense_Mutation_p.T872A|SBNO1_ENST00000602398.1_Missense_Mutation_p.T873A|SBNO1_ENST00000267176.4_Missense_Mutation_p.T872A	p.T873A	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	18	2616	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		873					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.2617A>G	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.769969	0.90020	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.32023	1.47;1.47	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.41282	0.1152	L	0.31476	0.935	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.80764	0.994;0.99	T	0.13255	-1.0516	10	0.12103	T	0.63	-19.7558	16.0098	0.80391	0.0:0.0:0.0:1.0	.	873;872	A3KN83;A3KN83-2	SBNO1_HUMAN;.	A	873;872	ENSP00000387361:T873A;ENSP00000267176:T872A	ENSP00000267176:T872A	T	-	1	0	SBNO1	122370982	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	7.959000	0.87885	2.175000	0.68902	0.533000	0.62120	ACC		0.453	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		6	146	0	0	0	1	0	6	146					C	123805029	T	C	123805029	3	2	436	1	0	0	0	0	1	0	0	0	13862	1638	57	3	1620	3	SBNO1	12	123805029	Missense_Mutation	SNP	T	TCGA-FY-A3RA-01A-11D-A21Z-08	2040057	123805029	10046866	9	8928											
MYH6	4624	broad.mit.edu	37	chr14	23855756	23855756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtccttctctgccagcttcCgctcgatctctgccttgatc	7	17	2	1			TCGA-FY-A3RA-01A-11D-A21Z-08	TCGA-FY-A3RA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7fad7a4-5d3f-498e-b059-31b2a9317507	ca01a0ac-d4f6-4e1e-9620-7f0b668609d7	g.chr14:23855756C>T	ENST00000356287.3	-	32	4756	c.4727G>A	c.(4726-4728)cGg>cAg	p.R1576Q	MIR208A_ENST00000362287.1_RNA|MYH6_ENST00000405093.3_Missense_Mutation_p.R1576Q			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1576					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)		TGCCAGCTTCCGCTCGATCTC	0.647																																						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.(4726-4728)cGg>cAg		myosin, heavy chain 6, cardiac muscle, alpha							158	166	163					14																	23855756		2203	4300	6503	SO:0001583	missense	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.chr14:23855756C>T	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.4727G>A	14.37:g.23855756C>T	ENSP00000348634:p.Arg1576Gln					MYH6_ENST00000356287.3_Missense_Mutation_p.R1576Q	p.R1576Q	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)	33	4797	-	all_cancers(95;2.54e-05)		1576					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.4727G>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	c	27.3	4.816818	0.90790	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.81996	-1.56;-1.56	4.26	3.36	0.38483	Myosin tail (1);	.	.	.	.	D	0.90837	0.7122	M	0.85945	2.785	0.41767	D	0.989741	D	0.89917	1.0	D	0.91635	0.999	D	0.91566	0.5268	9	0.87932	D	0	.	12.0269	0.53375	0.0:0.9148:0.0:0.0852	.	1576	P13533	MYH6_HUMAN	Q	1576	ENSP00000386041:R1576Q;ENSP00000348634:R1576Q	ENSP00000348634:R1576Q	R	-	2	0	MYH6	22925596	0.336000	0.24757	1.000000	0.80357	0.996000	0.88848	4.896000	0.63222	0.886000	0.36113	0.561000	0.74099	CGG		0.647	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			133	212	0	0	0	1	0	133	212					T	23855756	C	T	23855756	3	4	436	1	0	0	0	0	1	0	0	0	10038	652	23	1	1120	1	MYH6	14	23855756	Missense_Mutation	SNP	C	TCGA-FY-A3RA-01A-11D-A21Z-08		23855756	83493784	10	8929											
GOLGA6C	653641	broad.mit.edu	37	chr15	75562493	75562493	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttctccccatgacaaccccCcggtacagcagatcgtgcag	9	16	1	2	rs201864661		TCGA-FY-A3RA-01A-11D-A21Z-08	TCGA-FY-A3RA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7fad7a4-5d3f-498e-b059-31b2a9317507	ca01a0ac-d4f6-4e1e-9620-7f0b668609d7	g.chr15:75562493C>A	ENST00000300576.5	+	18	2035	c.2035C>A	c.(2035-2037)Ccg>Acg	p.P679T	RN7SL489P_ENST00000486185.2_RNA	NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN	golgin A6 family, member C	679						Golgi apparatus (GO:0005794)				ovary(1)	1						TGACAACCCCCCGGTACAGCA	0.602																																						ENST00000300576.5																			0				ovary(1)	1						c.(2035-2037)Ccg>Acg		golgin A6 family, member C																																				SO:0001583	missense	653641							g.chr15:75562493C>A		CCDS58388.1	15q24.2	2014-02-12	2010-02-12		ENSG00000167195	ENSG00000167195			32206	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6C"				Standard	NM_001164404		Approved		uc002azs.2	A6NDK9	OTTHUMG00000172671	ENST00000300576.5:c.2035C>A	15.37:g.75562493C>A	ENSP00000300576:p.Pro679Thr						p.P679T	NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN			18	2035	+			679						Missense_Mutation	SNP	ENST00000300576.5	37	c.2035C>A	CCDS58388.1	.	.	.	.	.	.	.	.	.	.	-	0.005	-2.235243	0.00277	.	.	ENSG00000167195	ENST00000300576	T	0.12465	2.68	.	.	.	.	.	.	.	.	T	0.01254	0.0041	N	0.00012	-2.95	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.34179	-0.9839	8	0.02654	T	1	.	4.0506	0.09793	0.6453:0.3546:1.0E-4:0.0	.	679	A6NDK9	GOG6C_HUMAN	T	679	ENSP00000300576:P679T	ENSP00000300576:P679T	P	+	1	0	GOLGA6C	73349546	1.000000	0.71417	0.004000	0.12327	0.004000	0.04260	3.804000	0.55568	-1.404000	0.02050	-1.477000	0.00996	CCG		0.602	GOLGA6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419797.1	NM_001164404		7	88	1	0	2.0095e-06	1	2.11255e-06	7	88					A	75562493	C	A	75562493	3	1	436	1	0	0	0	0	1	0	0	0	6559	623	22	4	2105	4	GOLGA6C	15	75562493	Missense_Mutation	SNP	C	TCGA-FY-A3RA-01A-11D-A21Z-08		75562493	26968899	11	8930											
PVRL2	5819	broad.mit.edu	37	chr19	45381749	45381751	+	Intron	DEL	GAG	GAG	-													tggaaccagatggcaaggatGaggaggaggaggaggaggaa					rs558397688	byFrequency	TCGA-FY-A3RA-01A-11D-A21Z-08	TCGA-FY-A3RA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7fad7a4-5d3f-498e-b059-31b2a9317507	ca01a0ac-d4f6-4e1e-9620-7f0b668609d7	g.chr19:45381749_45381751delGAG	ENST00000252483.5	+	6	1042				PVRL2_ENST00000252485.4_In_Frame_Del_p.E445del	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)						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)		TGGCAaggatgaggaggaggagg	0.591														41	0.0081869	0.0197	0.0014	5008	,	,		15541	0.003		0.003	False		,,,				2504	0.0082					ENST00000252485.4																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13						c.(1312-1314)del		poliovirus receptor-related 2 (herpesvirus entry mediator B)			,	121,4143		6,109,2017					,	-4.6	0.1			51	244,8010		12,220,3895	no	coding,intron	PVRL2	NM_002856.2,NM_001042724.1	,	18,329,5912	A1A1,A1R,RR		2.9561,2.8377,2.9158	,	,		365,12153				SO:0001627	intron_variant	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.chr19:45381749_45381751delGAG	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.1043-3717GAG>-	19.37:g.45381758_45381760delGAG						PVRL2_ENST00000252483.5_Intron	p.E445del	NM_002856.2	NP_002847.1	Q92692	PVRL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	6	1663_1665	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)	504					A8K5L5|O75455|Q6IBI6|Q96J29	In_Frame_Del	DEL	ENST00000252483.5	37	c.1312_1314delGAG	CCDS42576.1																																																																																				0.591	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		8	36						8	36	---	---	---	---	-	45381751	GAG	-	45381749	6	5	436	0	1	1	0	1	0	0	0	0	12840	1291	45	0		0	PVRL2	19	45381749	Intron	DEL	GAG	TCGA-FY-A3RA-01A-11D-A21Z-08		45381749	13747234	12	8931											
GAGE2A	729408	broad.mit.edu	37	chrX	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT													gttggcgaggaagatcgaccINStatcggcctagaccaagacg					rs372553636		TCGA-FY-A3RA-01A-11D-A21Z-08	TCGA-FY-A3RA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7fad7a4-5d3f-498e-b059-31b2a9317507	ca01a0ac-d4f6-4e1e-9620-7f0b668609d7	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(25-27)tat>TATtat	p.9_9Y>YY		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1	Q9UEU5	GGE2D_HUMAN	G antigen 2D	9					cellular defense response (GO:0006968)												GAAGATCGACCTATCGGCCTAG	0.465														477	0.126358	0.031	0.098	3775	,	,		26951	0.0972		0.1441	False		,,,				2504	0.1278					ENST00000404720.2																			0											c.(22-27)acatcg>acTATatcg		G antigen 2D				10,505,1500		1,1,3,4,46,330,82,490,187						-1.1	0.0			8	27,1244,2482		1,3,16,6,128,539,446,675,577	no	codingComplex	GAGE2D	NM_001098407.1		2,4,19,10,174,869,528,1165,764	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.8662,25.5583,30.9639				37,1749,3982				SO:0001652	inframe_insertion	729408							g.chrX:49208295_49208296insTAT			Xp11.23	2012-10-02			ENSG00000240257				31959	protein-coding gene	gene with protein product		300735					Standard	NM_001098407		Approved	GAGE8		Q9UEU5	OTTHUMG00000067393	ENST00000404720.2:c.25_27dupTAT	X.37:g.49208296_49208298dupTAT	ENSP00000386110:p.Tyr9dup						p.8_9TS>TIS	NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1					2	96_97	+								A6NG46|A6NNR8|B7ZL76|Q4V325	In_Frame_Ins	INS	ENST00000404720.2	37	c.24_25insTAT	CCDS43941.1																																																																																				0.465	GAGE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144212.1	NM_001098407		8	20						8	20	---	---	---	---	TAT	49208296	-	TAT	49208295	7	5	436	1	0	1	1	0	0	0	0	0	6190	668	24	0	236	0	GAGE2A	23	49208295	In_Frame_Ins	INS	-	TCGA-FY-A3RA-01A-11D-A21Z-08		49208295	106062265	13	8932											
ASB12	142689	broad.mit.edu	37	chrX	63445422	63445422	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgcttgattgagagcctGcttctcctctgtgtcagtgt	10	11	3	2			TCGA-FY-A3RA-01A-11D-A21Z-08	TCGA-FY-A3RA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7fad7a4-5d3f-498e-b059-31b2a9317507	ca01a0ac-d4f6-4e1e-9620-7f0b668609d7	g.chrX:63445422G>A	ENST00000396130.2	-	1	81	c.82C>T	c.(82-84)Cag>Tag	p.Q28*	MTMR8_ENST00000453546.1_Nonsense_Mutation_p.Q412*|ASB12_ENST00000362002.2_Nonsense_Mutation_p.Q37*			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12	28					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						TTGAGAGCCTGCTTCTCCTCT	0.507																																						ENST00000453546.1																			2	Whole gene deletion(2)	p.0?(2)	ovary(1)|large_intestine(1)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						c.(1234-1236)Cag>Tag		myotubularin related protein 8							82	61	68					X																	63445422		2203	4300	6503	SO:0001587	stop_gained	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63445422G>A	AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"Ankyrin repeat domain containing"	19763	protein-coding gene	gene with protein product		300891	"ankyrin repeat and SOCS box-containing 12"			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705	ENST00000396130.2:c.82C>T	X.37:g.63445422G>A	ENSP00000379435:p.Gln28*					ASB12_ENST00000396130.2_Nonsense_Mutation_p.Q28*|ASB12_ENST00000362002.2_Nonsense_Mutation_p.Q37*	p.Q412*			Q96EF0	MTMR8_HUMAN			10	1323	-			0			Myotubularin phosphatase.		J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Nonsense_Mutation	SNP	ENST00000396130.2	37	c.1234C>T		.	.	.	.	.	.	.	.	.	.	G	37	6.213745	0.97380	.	.	ENSG00000198881;ENSG00000198881;ENSG00000198881;ENSG00000102043	ENST00000362002;ENST00000396130;ENST00000361287;ENST00000453546	.	.	.	4.36	4.36	0.52297	.	0.470871	0.20481	N	0.091493	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-35.0835	11.5846	0.50910	0.0:0.1776:0.8224:0.0	.	.	.	.	X	37;28;37;412	.	ENSP00000354626:Q37X	Q	-	1	0	ASB12;MTMR8	63362147	1.000000	0.71417	0.984000	0.44739	0.801000	0.45260	3.761000	0.55242	2.156000	0.67533	0.529000	0.55759	CAG		0.507	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				3	31	0	0	0	1	0	3	31					A	63445422	G	A	63445422	4	1	436	1	0	0	0	0	0	1	0	0	1016	1328	46	2	855	2	ASB12	23	63445422	Nonsense_Mutation	SNP	G	TCGA-FY-A3RA-01A-11D-A21Z-08	14237127	63445422	91825138	14	8933											
CD101	9398	broad.mit.edu	37	chr1	117560956	117560956	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcttattcgaatcacccaCaatggcactattgaatgggg	9	10	1	1			TCGA-FY-A3TY-01A-11D-A22Z-08	TCGA-FY-A3TY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f84ece22-b5e5-4f7b-ad54-1f0d5c782a06	c9a09595-df86-4d5d-a085-8acb85b0e05e	g.chr1:117560956C>A	ENST00000256652.4	+	6	1849	c.1791C>A	c.(1789-1791)caC>caA	p.H597Q	CD101_ENST00000369470.1_Missense_Mutation_p.H597Q	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	597	Ig-like C2-type 5.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GAATCACCCACAATGGCACTA	0.498																																						ENST00000256652.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1789-1791)caC>caA		CD101 molecule							125	103	110					1																	117560956		2203	4300	6503	SO:0001583	missense	9398				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr1:117560956C>A	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5949	protein-coding gene	gene with protein product		604516	"immunoglobulin superfamily, member 2"	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.1791C>A	1.37:g.117560956C>A	ENSP00000256652:p.His597Gln					CD101_ENST00000369470.1_Missense_Mutation_p.H597Q	p.H597Q	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN			6	1849	+			597			Ig-like C2-type 5.		Q15856	Missense_Mutation	SNP	ENST00000256652.4	37	c.1791C>A	CCDS891.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.314465	0.23908	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	D;D	0.94184	-3.37;-3.37	5.22	-7.7	0.01259	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.283844	0.30446	N	0.009619	D	0.84070	0.5391	M	0.73962	2.25	0.09310	N	1	P	0.43788	0.817	B	0.40534	0.332	T	0.81801	-0.0766	10	0.32370	T	0.25	-13.3273	12.0959	0.53755	0.0:0.6591:0.1254:0.2156	.	597	Q93033	IGSF2_HUMAN	Q	597	ENSP00000256652:H597Q;ENSP00000358482:H597Q	ENSP00000256652:H597Q	H	+	3	2	CD101	117362479	0.000000	0.05858	0.040000	0.18447	0.506000	0.33950	-1.431000	0.02432	-0.935000	0.03728	-0.345000	0.07892	CAC		0.498	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258		3	49	1	0	1	1	1	3	49					A	117560956	C	A	117560956	3	1	437	1	0	0	0	0	1	0	0	0	2962	477	17	4	1813	4	CD101	1	117560956	Missense_Mutation	SNP	C	TCGA-FY-A3TY-01A-11D-A22Z-08		117560956	131689665	1	8934											
ABCB11	8647	broad.mit.edu	37	chr2	169791766	169791766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctgtaggaagcagaattcGcaataaacatgatgcactgg	10	7	1	2			TCGA-FY-A3TY-01A-11D-A22Z-08	TCGA-FY-A3TY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f84ece22-b5e5-4f7b-ad54-1f0d5c782a06	c9a09595-df86-4d5d-a085-8acb85b0e05e	g.chr2:169791766G>A	ENST00000263817.6	-	23	3108	c.2984C>T	c.(2983-2985)gCg>gTg	p.A995V		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	995	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)	p.A995V(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	AGCAGAATTCGCAATAAACAT	0.448																																						ENST00000263817.6																			1	Substitution - Missense(1)	p.A995V(1)	ovary(1)	breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57						c.(2983-2985)gCg>gTg		ATP-binding cassette, sub-family B (MDR/TAP), member 11	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						146	138	141					2																	169791766		1918	4137	6055	SO:0001583	missense	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169791766G>A	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"ATP binding cassette transporters / subfamily B"	42	protein-coding gene	gene with protein product	"ABC member 16, MDR/TAP subfamily"	603201	"progressive familial intrahepatic cholestasis 2", "bile salt export pump"	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.2984C>T	2.37:g.169791766G>A	ENSP00000263817:p.Ala995Val						p.A995V	NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN			23	3108	-			995			ABC transmembrane type-1 2.		Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	c.2984C>T	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574552	0.65878	.	.	ENSG00000073734	ENST00000263817	D	0.89196	-2.48	5.78	5.78	0.91487	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.096695	0.64402	D	0.000001	D	0.89413	0.6708	N	0.21282	0.65	0.80722	D	1	P;D	0.58268	0.908;0.982	P;P	0.58130	0.46;0.833	D	0.88426	0.3032	10	0.36615	T	0.2	.	20.0045	0.97432	0.0:0.0:1.0:0.0	.	437;995	B4DZQ8;O95342	.;ABCBB_HUMAN	V	995	ENSP00000263817:A995V	ENSP00000263817:A995V	A	-	2	0	ABCB11	169500012	1.000000	0.71417	0.885000	0.34714	0.035000	0.12851	9.869000	0.99810	2.729000	0.93468	0.655000	0.94253	GCG		0.448	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		9	89	0	0	0	1	0	9	89					A	169791766	G	A	169791766	3	1	437	1	0	0	0	0	1	0	0	0	42	1087	38	1	1005	1	ABCB11	2	169791766	Missense_Mutation	SNP	G	TCGA-FY-A3TY-01A-11D-A22Z-08		169791766	73407607	2	8935											
FBXL2	25827	broad.mit.edu	37	chr3	33415072	33415072	+	De_novo_Start_OutOfFrame	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtttcttgttctctcagtgAgggctgccgaaacctggagt	12	9	3	1			TCGA-FY-A3TY-01A-11D-A22Z-08	TCGA-FY-A3TY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f84ece22-b5e5-4f7b-ad54-1f0d5c782a06	c9a09595-df86-4d5d-a085-8acb85b0e05e	g.chr3:33415072A>T	ENST00000542085.1	+	0	669				FBXL2_ENST00000446237.3_De_novo_Start_OutOfFrame|FBXL2_ENST00000484457.1_Missense_Mutation_p.E153V|FBXL2_ENST00000538892.1_Intron|FBXL2_ENST00000538181.1_Missense_Mutation_p.E69V|FBXL2_ENST00000507198.1_Intron|FBXL2_ENST00000283627.6_3'UTR					F-box and leucine-rich repeat protein 2											endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						TCTCTCAGTGAGGGCTGCCGA	0.488																																						ENST00000542085.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15								F-box and leucine-rich repeat protein 2							93	92	93					3																	33415072		2203	4300	6503			25827				interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity	g.chr3:33415072A>T	AF174589	CCDS2658.1, CCDS54560.1	3p22.3	2011-06-09			ENSG00000153558	ENSG00000153558		"F-boxes / Leucine-rich repeats"	13598	protein-coding gene	gene with protein product		605652				10508920, 10531035	Standard	NM_012157		Approved	FBL2, FBL3	uc003cfp.3	Q9UKC9	OTTHUMG00000130745	ENST00000542085.1:c.-413A>T	3.37:g.33415072A>T						FBXL2_ENST00000446237.3_De_novo_Start_OutOfFrame|FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000538892.1_Intron|FBXL2_ENST00000538181.1_Missense_Mutation_p.E69V|FBXL2_ENST00000507198.1_Intron|FBXL2_ENST00000484457.1_Missense_Mutation_p.E153V				Q9UKC9	FBXL2_HUMAN			0	669	+									Translation_Start_Site	SNP	ENST00000542085.1	37			.	.	.	.	.	.	.	.	.	.	A	17.81	3.481269	0.63849	.	.	ENSG00000153558	ENST00000484457;ENST00000538181	T;T	0.02525	4.26;4.26	5.29	4.11	0.48088	.	0.154257	0.64402	D	0.000020	T	0.06325	0.0163	L	0.60845	1.875	0.80722	D	1	P;P;B	0.34699	0.464;0.464;0.002	B;B;B	0.41412	0.284;0.356;0.007	T	0.22347	-1.0219	10	0.51188	T	0.08	.	12.9416	0.58348	0.8644:0.1356:0.0:0.0	.	69;48;153	B4E1B8;B4DMM3;Q9UKC9	.;.;FBXL2_HUMAN	V	153;69	ENSP00000417601:E153V;ENSP00000440794:E69V	ENSP00000417601:E153V	E	+	2	0	FBXL2	33390076	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	9.228000	0.95250	1.085000	0.41206	0.524000	0.50904	GAG		0.488	FBXL2-204	KNOWN	basic	protein_coding	protein_coding		NM_012157		3	40	0	0	0	1	0	3	40					T	33415072	A	T	33415072	1	4	437	1	0	1	0	0	0	0	0	0	5716	304	11	5		5	FBXL2	3	33415072	De_novo_Start_OutOfFrame	SNP	A	TCGA-FY-A3TY-01A-11D-A22Z-08		33415072	164607358	3	8936											
SULT1E1	6783	broad.mit.edu	37	chr4	70723283	70723283	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaacgcttccacattatccCaatatttgacaaaatcttta	4	10	1	1			TCGA-FY-A3TY-01A-11D-A22Z-08	TCGA-FY-A3TY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f84ece22-b5e5-4f7b-ad54-1f0d5c782a06	c9a09595-df86-4d5d-a085-8acb85b0e05e	g.chr4:70723283C>T	ENST00000226444.3	-	2	192	c.80G>A	c.(79-81)tGg>tAg	p.W27*		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	27					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	estrone sulfotransferase activity (GO:0004304)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid binding (GO:0005496)|steroid sulfotransferase activity (GO:0050294)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10					Acetaminophen(DB00316)|Cyclizine(DB01176)	CACATTATCCCAATATTTGAC	0.343																																						ENST00000226444.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						c.(79-81)tGg>tAg		sulfotransferase family 1E, estrogen-preferring, member 1							107	107	107					4																	70723283		2203	4300	6503	SO:0001587	stop_gained	6783				3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity	g.chr4:70723283C>T	BC027956	CCDS3531.1	4q13.1	2008-02-05	2004-02-06	2004-02-04	ENSG00000109193	ENSG00000109193	2.8.2.4	"Sulfotransferases, cytosolic"	11377	protein-coding gene	gene with protein product		600043	"sulfotransferase, estrogen-preferring"	STE		7961757	Standard	NM_005420		Approved	EST	uc003heo.3	P49888	OTTHUMG00000129403	ENST00000226444.3:c.80G>A	4.37:g.70723283C>T	ENSP00000226444:p.Trp27*						p.W27*	NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN			2	192	-			27					Q8N6X5	Nonsense_Mutation	SNP	ENST00000226444.3	37	c.80G>A	CCDS3531.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.775830	0.70107	.	.	ENSG00000109193	ENST00000226444	.	.	.	4.11	3.26	0.37387	.	0.199961	0.36101	N	0.002793	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.3274	0.38001	0.2139:0.7861:0.0:0.0	.	.	.	.	X	27	.	ENSP00000226444:W27X	W	-	2	0	SULT1E1	70757872	0.998000	0.40836	0.524000	0.27887	0.082000	0.17680	2.844000	0.48246	1.289000	0.44618	0.591000	0.81541	TGG		0.343	SULT1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251559.1	NM_005420		4	56	0	0	0	1	0	4	56					T	70723283	C	T	70723283	4	4	437	1	0	0	0	0	0	1	0	0	15377	595	21	2	832	2	SULT1E1	4	70723283	Nonsense_Mutation	SNP	C	TCGA-FY-A3TY-01A-11D-A22Z-08		70723283	120430993	4	8937											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FY-A3TY-01A-11D-A22Z-08	TCGA-FY-A3TY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f84ece22-b5e5-4f7b-ad54-1f0d5c782a06	c9a09595-df86-4d5d-a085-8acb85b0e05e	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		7	41	0	0	0	1	0	7	41					T	140453136	A	T	140453136	3	4	437	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FY-A3TY-01A-11D-A22Z-08		140453136	18685527	5	8938											
PCDH17	27253	broad.mit.edu	37	chr13	58299387	58299387	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaaattgataagcttttgCaagactgccggggaaacgac	12	7	0	3			TCGA-FY-A3TY-01A-11D-A22Z-08	TCGA-FY-A3TY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f84ece22-b5e5-4f7b-ad54-1f0d5c782a06	c9a09595-df86-4d5d-a085-8acb85b0e05e	g.chr13:58299387C>T	ENST00000377918.3	+	4	3465	c.3439C>T	c.(3439-3441)Caa>Taa	p.Q1147*		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1147					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TAAGCTTTTGCAAGACTGCCG	0.443																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(3439-3441)Caa>Taa		protocadherin 17							129	141	137					13																	58299387		2203	4300	6503	SO:0001587	stop_gained	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58299387C>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.3439C>T	13.37:g.58299387C>T	ENSP00000367151:p.Gln1147*						p.Q1147*	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	4	3465	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	1147					A8K1R5|Q5VVW9|Q5VVX0	Nonsense_Mutation	SNP	ENST00000377918.3	37	c.3439C>T	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	C	37	6.584622	0.97684	.	.	ENSG00000118946	ENST00000377918	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	.	.	.	X	1147	.	.	Q	+	1	0	PCDH17	57197388	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.559000	0.67326	2.885000	0.99019	0.655000	0.94253	CAA		0.443	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		18	139	0	0	0	1	0	18	139					T	58299387	C	T	58299387	4	4	437	1	0	0	0	0	0	1	0	0	11512	711	25	2	3453	2	PCDH17	13	58299387	Nonsense_Mutation	SNP	C	TCGA-FY-A3TY-01A-11D-A22Z-08		58299387	56870491	6	8939											
SPSB3	90864	broad.mit.edu	37	chr16	1828487	1828487	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccggtgggccgagtgcaGgctgctacagaaggaggcct	17	12	0	1			TCGA-FY-A3TY-01A-11D-A22Z-08	TCGA-FY-A3TY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f84ece22-b5e5-4f7b-ad54-1f0d5c782a06	c9a09595-df86-4d5d-a085-8acb85b0e05e	g.chr16:1828487G>A	ENST00000566339.1	-	3	583	c.253C>T	c.(253-255)Ctg>Ttg	p.L85L	SPSB3_ENST00000301717.4_Silent_p.L85L	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	85	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						GCCGAGTGCAGGCTGCTACAG	0.701																																						ENST00000566339.1																			0				endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						c.(253-255)Ctg>Ttg		splA/ryanodine receptor domain and SOCS box containing 3							34	36	35					16																	1828487		2197	4295	6492	SO:0001819	synonymous_variant	90864				intracellular signal transduction			g.chr16:1828487G>A		CCDS32365.1	16p13.3	2008-02-05				ENSG00000162032			30629	protein-coding gene	gene with protein product		611659	"chromosome 16 open reading frame 31"	C16orf31		12076535	Standard	NM_080861		Approved	SSB-3	uc002cmu.3	Q6PJ21		ENST00000566339.1:c.253C>T	16.37:g.1828487G>A						SPSB3_ENST00000301717.4_Silent_p.L85L	p.L85L	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN			3	583	-			85			B30.2/SPRY.		D3DU78|Q49A96|Q86X18|Q8WXK5|Q96IE6|Q96RY2	Silent	SNP	ENST00000566339.1	37	c.253C>T	CCDS32365.1																																																																																				0.701	SPSB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433512.1	NM_080861		6	45	0	0	0	1	0	6	45					A	1828487	G	A	1828487	2	1	437	1	0	0	0	0	0	0	0	1	15113	991	35	2		2	SPSB3	16	1828487	Silent	SNP	G	TCGA-FY-A3TY-01A-11D-A22Z-08		1828487	88526266	7	8940											
RALGAPB	57148	broad.mit.edu	37	chr20	37168499	37168499	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgtttatcagtgtagtcgGccagctcctttacactccag	8	11	1	0			TCGA-FY-A3TY-01A-11D-A22Z-08	TCGA-FY-A3TY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f84ece22-b5e5-4f7b-ad54-1f0d5c782a06	c9a09595-df86-4d5d-a085-8acb85b0e05e	g.chr20:37168499G>A	ENST00000262879.6	+	17	2744	c.2460G>A	c.(2458-2460)cgG>cgA	p.R820R	RALGAPB_ENST00000397042.3_Silent_p.R816R|RALGAPB_ENST00000397040.1_Silent_p.R820R|RALGAPB_ENST00000397038.1_Silent_p.R598R			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	820					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AGTGTAGTCGGCCAGCTCCTT	0.483																																						ENST00000262879.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(2458-2460)cgG>cgA		Ral GTPase activating protein, beta subunit (non-catalytic)							162	129	140					20																	37168499		2203	4300	6503	SO:0001819	synonymous_variant	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37168499G>A	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"KIAA1219"	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.2460G>A	20.37:g.37168499G>A						RALGAPB_ENST00000397038.1_Silent_p.R598R|RALGAPB_ENST00000397040.1_Silent_p.R820R|RALGAPB_ENST00000397042.3_Silent_p.R816R	p.R820R			Q86X10	RLGPB_HUMAN			17	2744	+			820					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Silent	SNP	ENST00000262879.6	37	c.2460G>A	CCDS13305.1																																																																																				0.483	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		3	51	0	0	0	1	0	3	51					A	37168499	G	A	37168499	2	1	437	1	0	0	0	0	0	0	0	1	13015	1190	42	2		2	RALGAPB	20	37168499	Silent	SNP	G	TCGA-FY-A3TY-01A-11D-A22Z-08		37168499	25857021	8	8941											
UBE2NL	389898	broad.mit.edu	37	chrX	142967413	142967413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatggcagcccctaaagtaCgtttcatgaccaaaatttat	6	10	1	1			TCGA-FY-A3TY-01A-11D-A22Z-08	TCGA-FY-A3TY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f84ece22-b5e5-4f7b-ad54-1f0d5c782a06	c9a09595-df86-4d5d-a085-8acb85b0e05e	g.chrX:142967413C>T	ENST00000370494.1	+	1	241	c.211C>T	c.(211-213)Cgt>Tgt	p.R71C		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like (gene/pseudogene)	71						extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)	p.R71G(1)		breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTAAAGTACGTTTCATGAC	0.423																																						ENST00000370494.1																			1	Substitution - Missense(1)	p.R71G(1)	lung(1)	breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(211-213)Cgt>Tgt		ubiquitin-conjugating enzyme E2N-like							93	89	90					X																	142967413		2203	4300	6503	SO:0001583	missense	389898						acid-amino acid ligase activity	g.chrX:142967413C>T			Xq27.3	2014-06-11	2014-06-11		ENSG00000102069			"Ubiquitin-conjugating enzymes E2"	31710	protein-coding gene	gene with protein product			"ubiquitin-conjugating enzyme E2N-like"			20736409	Standard	NM_001012989		Approved		uc004fca.3	Q5JXB2	OTTHUMG00000022586	ENST00000370494.1:c.211C>T	X.37:g.142967413C>T	ENSP00000359525:p.Arg71Cys						p.R71C	NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN			1	241	+	Acute lymphoblastic leukemia(192;6.56e-05)		71					E9KL27	Missense_Mutation	SNP	ENST00000370494.1	37	c.211C>T	CCDS35420.1	.	.	.	.	.	.	.	.	.	.	C	7.694	0.691727	0.15039	.	.	ENSG00000102069	ENST00000370494	T	0.73681	-0.77	1.1	1.1	0.20463	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.44285	U	0.000476	T	0.78817	0.4343	H	0.96777	3.88	0.80722	D	1	P	0.37864	0.61	B	0.35413	0.202	T	0.79928	-0.1596	10	0.59425	D	0.04	3.8094	7.8005	0.29172	0.0:1.0:0.0:0.0	.	71	Q5JXB2	UE2NL_HUMAN	C	71	ENSP00000359525:R71C	ENSP00000359525:R71C	R	+	1	0	UBE2NL	142795079	1.000000	0.71417	0.996000	0.52242	0.108000	0.19459	5.342000	0.65970	0.849000	0.35215	0.190000	0.17370	CGT		0.423	UBE2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058624.1	NM_001012989		10	84	0	0	0	1	0	10	84					T	142967413	C	T	142967413	3	4	437	1	0	0	0	0	1	0	0	0	16864	536	19	1	213	1	UBE2NL	23	142967413	Missense_Mutation	SNP	C	TCGA-FY-A3TY-01A-11D-A22Z-08		142967413	12303147	9	8942											
FBXO44	93611	broad.mit.edu	37	chr1	11718892	11718892	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accttccagccagacccggcGaccatccagcagaagagcga	10	16	0	3	rs367623463		TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr1:11718892G>A	ENST00000251547.5	+	5	670	c.588G>A	c.(586-588)gcG>gcA	p.A196A	FBXO44_ENST00000376760.1_Missense_Mutation_p.D155N|FBXO44_ENST00000251546.4_Missense_Mutation_p.D155N|FBXO44_ENST00000376768.1_Missense_Mutation_p.D187N|FBXO44_ENST00000376770.1_Silent_p.A196A|FBXO44_ENST00000376762.4_Missense_Mutation_p.D155N	NM_033182.5	NP_149438.2	Q9H4M3	FBX44_HUMAN	F-box protein 44	196	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	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;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CAGACCCGGCGACCATCCAGC	0.672																																						ENST00000251546.4																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8						c.(463-465)Gac>Aac		F-box protein 44		G	,,ASN/ASP,ASN/ASP	0,4406		0,0,2203	46	48	47		588,588,463,463	-5.4	0.0	1		47	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,missense,missense	FBXO44	NM_001014765.1,NM_033182.5,NM_183412.2,NM_183413.2	,,23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	196/256,196/256,155/225,155/225	11718892	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	93611				protein catabolic process	SCF ubiquitin ligase complex	protein binding	g.chr1:11718892G>A	AY040878	CCDS131.1, CCDS132.1	1p36.21	2008-03-26			ENSG00000132879	ENSG00000132879		"F-boxes /  "other""	24847	protein-coding gene	gene with protein product		609111				12383498	Standard	XM_005263535		Approved	FBX30, FBG3, MGC14140, Fbxo6a, Fbx44	uc001asm.3	Q9H4M3	OTTHUMG00000002071	ENST00000251547.5:c.588G>A	1.37:g.11718892G>A						FBXO44_ENST00000251547.5_Silent_p.A196A|FBXO44_ENST00000376760.1_Missense_Mutation_p.D155N|FBXO44_ENST00000376762.4_Missense_Mutation_p.D155N|FBXO44_ENST00000376768.1_Missense_Mutation_p.D187N|FBXO44_ENST00000376770.1_Silent_p.A196A	p.D155N	NM_183412.2	NP_904319.1	Q9H4M3	FBX44_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	4	700	+	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;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	0			FBA.		B3KNZ2|B7Z743|Q5TGX2|Q5TGX4|Q5TGX5|Q68DJ9|Q8WWY2	Missense_Mutation	SNP	ENST00000251547.5	37	c.463G>A	CCDS132.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-2.011385	0.00422	0.0	1.16E-4	ENSG00000132879	ENST00000251546;ENST00000425796;ENST00000376768;ENST00000376762;ENST00000376760	T;T;T;T;T	0.44083	0.93;1.24;1.07;0.93;0.93	5.01	-5.38	0.02673	.	0.503034	0.24363	N	0.039179	T	0.18257	0.0438	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24870	-1.0148	9	0.15066	T	0.55	-25.3854	9.026	0.36230	0.1062:0.1303:0.6723:0.0912	.	187;155	B7Z1P2;Q9H4M3-2	.;.	N	155;155;187;155;155	ENSP00000251546:D155N;ENSP00000389820:D155N;ENSP00000365959:D187N;ENSP00000365953:D155N;ENSP00000365951:D155N	ENSP00000251546:D155N	D	+	1	0	FBXO44	11641479	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	-0.892000	0.04131	-0.852000	0.04141	-1.343000	0.01246	GAC		0.672	FBXO44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005761.1	NM_183412		53	42	0	0	0	1	0	53	42					A	11718892	G	A	11718892	2	1	438	1	0	0	0	0	0	0	0	1	5753	1058	37	1		1	FBXO44	1	11718892	Silent	SNP	G	TCGA-FY-A3W9-01A-11D-A22D-08		11718892	237531729	1	8943											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290	byFrequency	TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		neuroblastoma RAS viral (v-ras) oncogene homolog							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		81	96	0	0	0	1	0	81	96					C	115256529	T	C	115256529	3	2	438	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-FY-A3W9-01A-11D-A22D-08	103537637	115256529	133994092	2	8944											
PHGDH	26227	broad.mit.edu	37	chr1	120286533	120286533	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctggcagaggcaggcgtgcGgctgctgtcctaccagactt	14	13	0	2			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr1:120286533G>T	ENST00000369409.4	+	12	1608	c.1472G>T	c.(1471-1473)cGg>cTg	p.R491L	PHGDH_ENST00000482968.1_3'UTR|PHGDH_ENST00000369407.3_Missense_Mutation_p.R457L	NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	491					brain development (GO:0007420)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|G1 to G0 transition (GO:0070314)|gamma-aminobutyric acid metabolic process (GO:0009448)|glial cell development (GO:0021782)|glutamine metabolic process (GO:0006541)|glycine metabolic process (GO:0006544)|L-serine biosynthetic process (GO:0006564)|neural tube development (GO:0021915)|neuron projection development (GO:0031175)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|taurine metabolic process (GO:0019530)|threonine metabolic process (GO:0006566)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|phosphoglycerate dehydrogenase activity (GO:0004617)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)		GCAGGCGTGCGGCTGCTGTCC	0.582											OREG0013728	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000369407.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18						c.(1369-1371)cGg>cTg		phosphoglycerate dehydrogenase	NADH(DB00157)						97	98	98					1																	120286533		2203	4300	6503	SO:0001583	missense	26227				brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity	g.chr1:120286533G>T	BC011262	CCDS904.1	1p12	2008-02-05			ENSG00000092621	ENSG00000092621	1.1.1.95		8923	protein-coding gene	gene with protein product		606879					Standard	NM_006623		Approved	SERA, PGDH, PDG	uc001ehz.3	O43175	OTTHUMG00000012100	ENST00000369409.4:c.1472G>T	1.37:g.120286533G>T	ENSP00000358417:p.Arg491Leu		OREG0013728	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1502	PHGDH_ENST00000482968.1_3'UTR|PHGDH_ENST00000369409.4_Missense_Mutation_p.R491L	p.R457L			O43175	SERA_HUMAN		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	11	2877	+	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)	491					B2RD08|Q5SZU3|Q9BQ01	Missense_Mutation	SNP	ENST00000369409.4	37	c.1370G>T	CCDS904.1	.	.	.	.	.	.	.	.	.	.	.	16.36	3.102722	0.56183	.	.	ENSG00000092621	ENST00000369409;ENST00000537497;ENST00000369407	D;D	0.90844	-2.74;-2.74	5.95	4.84	0.62591	.	0.237733	0.43579	D	0.000555	T	0.66858	0.2832	N	0.08118	0	0.25694	N	0.98566	B;B;B;B	0.10296	0.003;0.003;0.003;0.001	B;B;B;B	0.10450	0.005;0.005;0.005;0.003	T	0.61486	-0.7053	10	0.87932	D	0	-2.7389	8.2191	0.31530	0.9084:0.0:0.0916:0.0	.	457;457;364;491	B3KSC3;Q5SZU1;F5H634;O43175	.;.;.;SERA_HUMAN	L	491;364;457	ENSP00000358417:R491L;ENSP00000358415:R457L	ENSP00000358415:R457L	R	+	2	0	PHGDH	120088056	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	3.675000	0.54605	1.087000	0.41251	-0.302000	0.09304	CGG		0.582	PHGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033464.1	NM_006623		12	128	1	0	0.000978159	1	0.00100611	12	128					T	120286533	G	T	120286533	3	4	438	1	0	0	0	0	1	0	0	0	11841	1116	39	4	1518	4	PHGDH	1	120286533	Missense_Mutation	SNP	G	TCGA-FY-A3W9-01A-11D-A22D-08	5030004	120286533	128964088	3	8945											
SUSD4	55061	broad.mit.edu	37	chr1	223441914	223441914	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatattgtgtaggtcgggGtaccggatcttgaatccttc	11	9	1	1			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr1:223441914G>A	ENST00000343846.3	-	3	1098	c.465C>T	c.(463-465)taC>taT	p.Y155Y	SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000344029.6_Silent_p.Y155Y|SUSD4_ENST00000484758.2_Silent_p.Y84Y|SUSD4_ENST00000366878.4_Silent_p.Y155Y|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000494793.2_Silent_p.Y155Y			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	155	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GTAGGTCGGGGTACCGGATCT	0.448																																						ENST00000343846.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17						c.(463-465)taC>taT		sushi domain containing 4							225	190	202					1																	223441914		2203	4300	6503	SO:0001819	synonymous_variant	55061					integral to membrane		g.chr1:223441914G>A	AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.465C>T	1.37:g.223441914G>A						SUSD4_ENST00000366878.4_Silent_p.Y155Y|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000344029.6_Silent_p.Y155Y|SUSD4_ENST00000454695.2_5'UTR	p.Y155Y			Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	3	1098	-			155			Sushi 2.		D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Silent	SNP	ENST00000343846.3	37	c.465C>T	CCDS41471.1																																																																																				0.448	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		3	76	0	0	0	1	0	3	76					A	223441914	G	A	223441914	2	1	438	1	0	0	0	0	0	0	0	1	15407	1256	44	2		2	SUSD4	1	223441914	Silent	SNP	G	TCGA-FY-A3W9-01A-11D-A22D-08	103155381	223441914	25808707	4	8946											
CHRM3	1131	broad.mit.edu	37	chr1	240071606	240071606	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aactttgtccaccccacgggCagttctcgaagctgcagcag	10	14	1	0			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr1:240071606C>A	ENST00000255380.4	+	5	1634	c.855C>A	c.(853-855)ggC>ggA	p.G285G		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	285					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	ACCCCACGGGCAGTTCTCGAA	0.517																																						ENST00000255380.4																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51						c.(853-855)ggC>ggA		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						39	44	42					1																	240071606		2203	4300	6503	SO:0001819	synonymous_variant	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240071606C>A	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1952	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 3"	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.855C>A	1.37:g.240071606C>A							p.G285G	NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	1634	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	285					Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Silent	SNP	ENST00000255380.4	37	c.855C>A	CCDS1616.1																																																																																				0.517	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		16	21	1	0	1.3612e-06	1	1.48495e-06	16	21					A	240071606	C	A	240071606	2	1	438	1	0	0	0	0	0	0	0	1	3378	697	25	4		4	CHRM3	1	240071606	Silent	SNP	C	TCGA-FY-A3W9-01A-11D-A22D-08	16629692	240071606	9179015	5	8947											
CNGA3	1261	broad.mit.edu	37	chr2	98999896	98999896	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actaacaccagcaacaacacGgaggaggagtaagtacccac	9	12	0	0			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr2:98999896G>A	ENST00000272602.2	+	4	480	c.441G>A	c.(439-441)acG>acA	p.T147T	CNGA3_ENST00000436404.2_Intron|CNGA3_ENST00000393504.1_Silent_p.T147T|CNGA3_ENST00000409937.1_Silent_p.T151T			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	147					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GCAACAACACGGAGGAGGAGT	0.587																																						ENST00000393504.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						c.(439-441)acG>acA		cyclic nucleotide gated channel alpha 3							123	106	112					2																	98999896		2203	4300	6503	SO:0001819	synonymous_variant	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:98999896G>A	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.441G>A	2.37:g.98999896G>A						CNGA3_ENST00000409937.1_Silent_p.T151T|CNGA3_ENST00000436404.2_Intron|CNGA3_ENST00000272602.2_Silent_p.T147T	p.T147T	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN			5	858	+			147					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Silent	SNP	ENST00000272602.2	37	c.441G>A	CCDS2034.1																																																																																				0.587	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		15	81	0	0	0	1	0	15	81					A	98999896	G	A	98999896	2	1	438	1	0	0	0	0	0	0	0	1	3598	1103	39	1		1	CNGA3	2	98999896	Silent	SNP	G	TCGA-FY-A3W9-01A-11D-A22D-08		98999896	144199477	6	8948											
CCDC108	255101	broad.mit.edu	37	chr2	219890815	219890815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagctgtggcctcgtgcccGcaccgtcaggcaccaggatg	13	14	1	0	rs141456868		TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr2:219890815G>A	ENST00000341552.5	-	14	2361	c.2278C>T	c.(2278-2280)Cgg>Tgg	p.R760W	CCDC108_ENST00000453220.1_Missense_Mutation_p.R760W|CCDC108_ENST00000441968.1_Missense_Mutation_p.R760W	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	760						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)		CCTCGTGCCCGCACCGTCAGG	0.592																																						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.(2278-2280)Cgg>Tgg		coiled-coil domain containing 108							79	69	72					2																	219890815		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219890815G>A	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.2278C>T	2.37:g.219890815G>A	ENSP00000340776:p.Arg760Trp					CCDC108_ENST00000453220.1_Missense_Mutation_p.R760W|CCDC108_ENST00000441968.1_Missense_Mutation_p.R760W	p.R760W	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)	14	2361	-		Renal(207;0.0915)	760					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.2278C>T	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	G	14.74	2.624641	0.46840	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.06608	3.28;3.28;3.28	4.87	2.88	0.33553	.	0.698236	0.11855	N	0.522902	T	0.22513	0.0543	M	0.67953	2.075	0.09310	N	1	D	0.89917	1.0	D	0.68765	0.96	T	0.06215	-1.0839	10	0.66056	D	0.02	-7.944	14.3938	0.66999	0.0:0.0:0.681:0.319	.	760	Q6ZU64	CC108_HUMAN	W	760	ENSP00000340776:R760W;ENSP00000413377:R760W;ENSP00000409117:R760W	ENSP00000340776:R760W	R	-	1	2	CCDC108	219599059	0.906000	0.30813	0.046000	0.18839	0.673000	0.39480	1.657000	0.37366	1.257000	0.44085	0.561000	0.74099	CGG		0.592	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		4	89	0	0	0	1	0	4	89					A	219890815	G	A	219890815	3	1	438	1	0	0	0	0	1	0	0	0	2743	1086	38	1	3587	1	CCDC108	2	219890815	Missense_Mutation	SNP	G	TCGA-FY-A3W9-01A-11D-A22D-08	120890919	219890815	23308558	7	8949											
COL6A3	1293	broad.mit.edu	37	chr2	238280890	238280890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtccaggtagtcaaccagcCtctctatgagggtgcgaacg	12	12	2	1			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr2:238280890C>T	ENST00000295550.4	-	9	4222	c.3770G>A	c.(3769-3771)aGg>aAg	p.R1257K	COL6A3_ENST00000392003.2_Missense_Mutation_p.R850K|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1051K|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1057K|COL6A3_ENST00000472056.1_Missense_Mutation_p.R650K|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1056K|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1051K|COL6A3_ENST00000392004.3_Missense_Mutation_p.R1051K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1257	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTCAACCAGCCTCTCTATGAG	0.582																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(3769-3771)aGg>aAg		collagen, type VI, alpha 3							54	51	52					2																	238280890		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238280890C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3770G>A	2.37:g.238280890C>T	ENSP00000295550:p.Arg1257Lys					COL6A3_ENST00000392003.2_Missense_Mutation_p.R850K|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1056K|COL6A3_ENST00000472056.1_Missense_Mutation_p.R650K|COL6A3_ENST00000392004.3_Missense_Mutation_p.R1051K|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1051K|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1051K|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1057K	p.R1257K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	9	4222	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1257			Nonhelical region.|VWFA 7.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.3770G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.474533	0.43942	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	T;T;T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23	5.58	3.79	0.43588	von Willebrand factor, type A (3);	0.308551	0.27609	N	0.018612	T	0.23410	0.0566	N	0.16016	0.355	0.44454	D	0.997388	B;B;B;P;B	0.40302	0.41;0.081;0.081;0.712;0.007	P;B;B;B;B	0.44447	0.45;0.256;0.17;0.279;0.007	T	0.02868	-1.1100	10	0.12766	T	0.61	.	9.4555	0.38751	0.0:0.7833:0.0:0.2167	.	650;850;1051;1051;1257	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	K	1257;1056;1051;650;1051;1057;1051;850	ENSP00000295550:R1257K;ENSP00000315609:R1056K;ENSP00000315873:R1051K;ENSP00000418285:R650K;ENSP00000386844:R1051K;ENSP00000295546:R1057K;ENSP00000375861:R1051K;ENSP00000375860:R850K	ENSP00000295550:R1257K	R	-	2	0	COL6A3	237945629	0.052000	0.20516	0.997000	0.53966	0.698000	0.40448	0.832000	0.27490	0.716000	0.32124	0.655000	0.94253	AGG		0.582	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		5	52	0	0	0	1	0	5	52					T	238280890	C	T	238280890	3	4	438	1	0	0	0	0	1	0	0	0	3701	681	24	2	5954	2	COL6A3	2	238280890	Missense_Mutation	SNP	C	TCGA-FY-A3W9-01A-11D-A22D-08	18390075	238280890	4918483	8	8950											
UBP1	7342	broad.mit.edu	37	chr3	33454278	33454278	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagttgctgatgctctgtGtattgtagccgtctgtcatg	11	8	4	1	rs531338398		TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr3:33454278G>A	ENST00000283629.3	-	4	913	c.384C>T	c.(382-384)taC>taT	p.Y128Y	UBP1_ENST00000283628.5_Silent_p.Y128Y|UBP1_ENST00000447368.2_Silent_p.Y128Y|RNU7-110P_ENST00000516891.1_RNA	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	128					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						GATGCTCTGTGTATTGTAGCC	0.453																																						ENST00000283629.3																			0				breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						c.(382-384)taC>taT		upstream binding protein 1 (LBP-1a)							281	250	260					3																	33454278		2203	4300	6503	SO:0001819	synonymous_variant	7342				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr3:33454278G>A	AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.384C>T	3.37:g.33454278G>A						UBP1_ENST00000283628.5_Silent_p.Y128Y|UBP1_ENST00000447368.2_Silent_p.Y128Y	p.Y128Y	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN			4	913	-			128					Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Silent	SNP	ENST00000283629.3	37	c.384C>T	CCDS2659.1																																																																																				0.453	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	NM_014517		4	144	0	0	0	1	0	4	144					A	33454278	G	A	33454278	2	1	438	1	0	0	0	0	0	0	0	1	16892	1372	48	2		2	UBP1	3	33454278	Silent	SNP	G	TCGA-FY-A3W9-01A-11D-A22D-08		33454278	164568152	9	8951											
WDFY3	23001	broad.mit.edu	37	chr4	85639709	85639709	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctggactcgagcacagcgGtacatgtgttggatctataa	11	10	1	0			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr4:85639709G>A	ENST00000295888.4	-	48	8027	c.7620C>T	c.(7618-7620)taC>taT	p.Y2540Y	WDFY3_ENST00000322366.6_Silent_p.Y2523Y	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2540	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)		GAGCACAGCGGTACATGTGTT	0.408																																						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.(7567-7569)taC>taT		WD repeat and FYVE domain containing 3							73	76	75					4																	85639709		2203	4300	6503	SO:0001819	synonymous_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85639709G>A	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.7620C>T	4.37:g.85639709G>A						WDFY3_ENST00000295888.4_Silent_p.Y2540Y	p.Y2523Y			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	47	7976	-		Hepatocellular(203;0.114)	2540					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	37	c.7569C>T	CCDS3609.1																																																																																				0.408	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		3	56	0	0	0	1	0	3	56					A	85639709	G	A	85639709	2	1	438	1	0	0	0	0	0	0	0	1	17267	1256	44	2		2	WDFY3	4	85639709	Silent	SNP	G	TCGA-FY-A3W9-01A-11D-A22D-08		85639709	105514567	10	8952											
KIAA0947	23379	broad.mit.edu	37	chr5	5462371	5462371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagacattgtgagagaagCtgcagtgcagggagatgggc	16	7	0	4			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr5:5462371C>T	ENST00000296564.7	+	13	3146	c.2924C>T	c.(2923-2925)gCt>gTt	p.A975V		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		975					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GTGAGAGAAGCTGCAGTGCAG	0.478																																						ENST00000296564.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(2923-2925)gCt>gTt		KIAA0947							28	30	29					5																	5462371		2026	4217	6243	SO:0001583	missense	23379							g.chr5:5462371C>T																												ENST00000296564.7:c.2924C>T	5.37:g.5462371C>T	ENSP00000296564:p.Ala975Val						p.A975V	NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN			13	3146	+			975					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.2924C>T	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	c	8.449	0.852603	0.17106	.	.	ENSG00000164151	ENST00000296564	T	0.08720	3.06	4.49	-1.04	0.10068	.	0.711424	0.13093	N	0.414414	T	0.02970	0.0088	N	0.12746	0.255	0.09310	N	1	B	0.16396	0.017	B	0.10450	0.005	T	0.44937	-0.9295	10	0.05721	T	0.95	-3.5062	3.5542	0.07858	0.2528:0.4689:0.0:0.2783	.	975	Q9Y2F5	K0947_HUMAN	V	975	ENSP00000296564:A975V	ENSP00000296564:A975V	A	+	2	0	KIAA0947	5515371	0.000000	0.05858	0.000000	0.03702	0.111000	0.19643	-0.023000	0.12456	-0.031000	0.13781	0.461000	0.40582	GCT		0.478	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			9	11	0	0	0	1	0	9	11					T	5462371	C	T	5462371	3	4	438	1	0	0	0	0	1	0	0	0	8202	797	28	2	2974	2	KIAA0947	5	5462371	Missense_Mutation	SNP	C	TCGA-FY-A3W9-01A-11D-A22D-08		5462371	175452889	11	8953											
DDX4	54514	broad.mit.edu	37	chr5	55088550	55088550	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttttggtccagaaatgaagAagttaatttcttgcccagga	10	6	1	3			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr5:55088550A>T	ENST00000505374.1	+	17	1476	c.1384A>T	c.(1384-1386)Aag>Tag	p.K462*	DDX4_ENST00000511853.1_Nonsense_Mutation_p.K313*|DDX4_ENST00000353507.5_Nonsense_Mutation_p.K428*|DDX4_ENST00000514278.2_Nonsense_Mutation_p.K442*|DDX4_ENST00000354991.5_Nonsense_Mutation_p.K428*	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	462	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				AGAAATGAAGAAGTTAATTTC	0.368																																						ENST00000505374.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(1384-1386)Aag>Tag		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4							79	77	78					5																	55088550		2203	4300	6503	SO:0001587	stop_gained	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55088550A>T	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"DEAD-boxes"	18700	protein-coding gene	gene with protein product		605281	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.1384A>T	5.37:g.55088550A>T	ENSP00000424838:p.Lys462*					DDX4_ENST00000511853.1_Nonsense_Mutation_p.K313*|DDX4_ENST00000514278.2_Nonsense_Mutation_p.K442*|DDX4_ENST00000353507.5_Nonsense_Mutation_p.K428*|DDX4_ENST00000354991.5_Nonsense_Mutation_p.K428*	p.K462*	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN			17	1476	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	462			Helicase ATP-binding.		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Nonsense_Mutation	SNP	ENST00000505374.1	37	c.1384A>T	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	A	37	6.272976	0.97431	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000354991;ENST00000511853	.	.	.	5.39	5.39	0.77823	.	0.057013	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.1209	15.705	0.77573	1.0:0.0:0.0:0.0	.	.	.	.	X	428;442;462;442;428;313	.	ENSP00000334167:K428X	K	+	1	0	DDX4	55124307	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.661000	0.74422	2.170000	0.68504	0.459000	0.35465	AAG		0.368	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		31	34	0	0	0	1	0	31	34					T	55088550	A	T	55088550	4	4	438	1	0	0	0	0	0	1	0	0	4360	247	9	5	1487	5	DDX4	5	55088550	Nonsense_Mutation	SNP	A	TCGA-FY-A3W9-01A-11D-A22D-08	49626179	55088550	125826710	12	8954											
KIF4B	285643	broad.mit.edu	37	chr5	154394056	154394056	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actcccagtcgtcccgatctCatgccatctttacaatctcc	4	17	3	0			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr5:154394056C>T	ENST00000435029.4	+	1	797	c.637C>T	c.(637-639)Cat>Tat	p.H213Y		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	213	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTCCCGATCTCATGCCATCTT	0.468																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(637-639)Cat>Tat		kinesin family member 4B							114	110	112					5																	154394056		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154394056C>T	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.637C>T	5.37:g.154394056C>T	ENSP00000387875:p.His213Tyr						p.H213Y	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	797	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	213			Kinesin-motor.			Missense_Mutation	SNP	ENST00000435029.4	37	c.637C>T	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	c	16.47	3.132723	0.56828	.	.	ENSG00000226650	ENST00000435029	D	0.93659	-3.26	1.73	1.73	0.24493	Kinesin, motor domain (5);	.	.	.	.	D	0.97860	0.9297	H	0.99444	4.57	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.96765	0.9564	9	0.87932	D	0	.	9.4402	0.38664	0.0:1.0:0.0:0.0	.	213	Q2VIQ3	KIF4B_HUMAN	Y	213	ENSP00000387875:H213Y	ENSP00000387875:H213Y	H	+	1	0	KIF4B	154374249	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.734000	0.55037	1.302000	0.44855	0.655000	0.94253	CAT		0.468	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			40	34	0	0	0	1	0	40	34					T	154394056	C	T	154394056	3	4	438	1	0	0	0	0	1	0	0	0	8304	826	29	2	639	2	KIF4B	5	154394056	Missense_Mutation	SNP	C	TCGA-FY-A3W9-01A-11D-A22D-08	99305506	154394056	26521204	13	8955											
ADAMTS2	9509	broad.mit.edu	37	chr5	178579222	178579222	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggttgtcaggatggctgCaccacagctgcttgcagggg	17	9	1	0			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr5:178579222C>T	ENST00000251582.7	-	10	1651	c.1550G>A	c.(1549-1551)tGc>tAc	p.C517Y	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.C517Y	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	517	Disintegrin.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		AGGATGGCTGCACCACAGCTG	0.607																																						ENST00000251582.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(1549-1551)tGc>tAc		ADAM metallopeptidase with thrombospondin type 1 motif, 2							79	69	73					5																	178579222		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178579222C>T	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.1550G>A	5.37:g.178579222C>T	ENSP00000251582:p.Cys517Tyr					ADAMTS2_ENST00000274609.5_Missense_Mutation_p.C517Y	p.C517Y	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	10	1651	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	517			Disintegrin.			Missense_Mutation	SNP	ENST00000251582.7	37	c.1550G>A	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630905	0.87660	.	.	ENSG00000087116	ENST00000251582;ENST00000274609	T;T	0.76316	-1.01;-1.01	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000007	D	0.91633	0.7356	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.93783	0.7085	10	0.87932	D	0	.	18.1139	0.89545	0.0:1.0:0.0:0.0	.	517;517	O95450-2;O95450	.;ATS2_HUMAN	Y	517	ENSP00000251582:C517Y;ENSP00000274609:C517Y	ENSP00000251582:C517Y	C	-	2	0	ADAMTS2	178511828	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.616000	0.83018	2.513000	0.84729	0.556000	0.70494	TGC		0.607	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		15	19	0	0	0	1	0	15	19					T	178579222	C	T	178579222	3	4	438	1	0	0	0	0	1	0	0	0	265	710	25	2	2212	2	ADAMTS2	5	178579222	Missense_Mutation	SNP	C	TCGA-FY-A3W9-01A-11D-A22D-08	24185166	178579222	2336038	14	8956											
C6orf146	222826	broad.mit.edu	37	chr6	4069773	4069773	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaacattttttattgtttcTggcttcaagttcaggtccac	6	9	4	0			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr6:4069773T>C	ENST00000274673.3	-	7	1087	c.684A>G	c.(682-684)ccA>ccG	p.P228P	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	F217A_HUMAN	family with sequence similarity 217, member A	228																	TTATTGTTTCTGGCTTCAAGT	0.368																																						ENST00000274673.3																			0											c.(682-684)ccA>ccG		family with sequence similarity 217, member A							104	109	107					6																	4069773		2203	4300	6503	SO:0001819	synonymous_variant	222826							g.chr6:4069773T>C	BC039349	CCDS4489.1	6p25.1	2012-02-07	2012-02-07	2012-02-07	ENSG00000145975	ENSG00000145975			21362	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 146"	C6orf146			Standard	NM_173563		Approved	MGC43581	uc003mvx.3	Q8IXS0	OTTHUMG00000014159	ENST00000274673.3:c.684A>G	6.37:g.4069773T>C						FAM217A_ENST00000380188.2_5'UTR	p.P228P	NM_173563.2	NP_775834.2	Q8IXS0	CF146_HUMAN			7	1087	-			228					Q5JYK1	Silent	SNP	ENST00000274673.3	37	c.684A>G	CCDS4489.1																																																																																				0.368	FAM217A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352577.2	NM_173563		10	99	0	0	0	1	0	10	99					C	4069773	T	C	4069773	2	2	438	1	0	0	0	0	0	0	0	1	2335	1567	55	3		3	C6orf146	6	4069773	Silent	SNP	T	TCGA-FY-A3W9-01A-11D-A22D-08		4069773	167045294	15	8957											
CRISP2	7180	broad.mit.edu	37	chr6	49665595	49665595	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggacaatattggcaaacatAgtagtattttagactatctt	7	5	1	1			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr6:49665595A>T	ENST00000339139.4	-	8	729	c.493T>A	c.(493-495)Tat>Aat	p.Y165N		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	165	SCP.				single organismal cell-cell adhesion (GO:0016337)	extracellular space (GO:0005615)				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TGGCAAACATAGTAGTATTTT	0.328																																						ENST00000339139.4																			0				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19						c.(493-495)Tat>Aat		cysteine-rich secretory protein 2							109	112	111					6																	49665595		2203	4300	6503	SO:0001583	missense	7180					extracellular space		g.chr6:49665595A>T	X95239	CCDS4928.1	6p12.3	2009-03-12	2003-09-03	2003-09-05	ENSG00000124490	ENSG00000124490			12024	protein-coding gene	gene with protein product	"cancer/testis antigen 36"	187430	"testis specific protein 1 (probe H4-1 p3-1)"	GAPDL5, TPX1		2613236, 8665901	Standard	NM_003296		Approved	CRISP-2, CT36	uc003ozo.3	P16562	OTTHUMG00000014822	ENST00000339139.4:c.493T>A	6.37:g.49665595A>T	ENSP00000339155:p.Tyr165Asn						p.Y165N	NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		8	729	-	Lung NSC(77;0.0161)		165					A8K8M0|Q53FF2|Q5U8Z9|Q7Z7B2	Missense_Mutation	SNP	ENST00000339139.4	37	c.493T>A	CCDS4928.1	.	.	.	.	.	.	.	.	.	.	A	19.87	3.907713	0.72868	.	.	ENSG00000124490	ENST00000339139;ENST00000211238	T	0.08193	3.12	4.7	4.7	0.59300	Allergen V5/Tpx-1-related, conserved site (1);CAP domain (3);	0.062767	0.64402	D	0.000003	T	0.26412	0.0645	M	0.91196	3.185	0.54753	D	0.999983	D;D	0.76494	0.999;0.999	D;D	0.80764	0.993;0.994	T	0.14643	-1.0465	10	0.72032	D	0.01	.	12.4302	0.55569	1.0:0.0:0.0:0.0	.	165;165	Q7Z7B2;P16562	.;CRIS2_HUMAN	N	165	ENSP00000339155:Y165N	ENSP00000211238:Y165N	Y	-	1	0	CRISP2	49773554	1.000000	0.71417	0.919000	0.36401	0.883000	0.51084	5.071000	0.64382	2.105000	0.64084	0.528000	0.53228	TAT		0.328	CRISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040870.2	NM_003296		62	92	0	0	0	1	0	62	92					T	49665595	A	T	49665595	3	4	438	1	0	0	0	0	1	0	0	0	3880	420	15	5	250	5	CRISP2	6	49665595	Missense_Mutation	SNP	A	TCGA-FY-A3W9-01A-11D-A22D-08	45595822	49665595	121449472	16	8958											
CYB5R4	51167	broad.mit.edu	37	chr6	84634311	84634311	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttattccaaggaaagatacaGgtatgctgtgttcttttgtt	9	5	1	1			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr6:84634311G>A	ENST00000369681.5	+	10	954	c.814G>A	c.(814-816)Ggt>Agt	p.G272S		NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	272					cell development (GO:0048468)|detection of oxygen (GO:0003032)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NAD(P)H oxidase activity (GO:0016174)|NADPH-hemoprotein reductase activity (GO:0003958)|oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor (GO:0016653)			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		GAAAGATACAGGTATGCTGTG	0.348																																					Esophageal Squamous(86;1289 1332 25971 40349 52675)	ENST00000369681.4																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23						c.e10+1		cytochrome b5 reductase 4							142	141	142					6																	84634311		2203	4300	6503	SO:0001630	splice_region_variant	51167				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity	g.chr6:84634311G>A	AF169803	CCDS5000.2	6q14.2	2012-09-19		2005-07-13	ENSG00000065615	ENSG00000065615	1.6.2.2		20147	protein-coding gene	gene with protein product		608343	"NADPH cytochrome B5 oxidoreductase"	NCB5OR		10611283	Standard	NM_016230		Approved	b5+b5R, dJ676J13.1	uc003pkf.3	Q7L1T6	OTTHUMG00000015118	ENST00000369681.5:c.814+1G>A	6.37:g.84634311G>A							p.G272_splice	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0871)	10	954	+		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)	272					B1AEM2|Q5TGI9|Q9NUE4|Q9UHI9	Splice_Site	SNP	ENST00000369681.5	37	c.814_splice	CCDS5000.2	.	.	.	.	.	.	.	.	.	.	G	14.18	2.458563	0.43634	.	.	ENSG00000065615	ENST00000369681	D	0.93426	-3.22	6.05	6.05	0.98169	Riboflavin synthase-like beta-barrel (1);	0.096235	0.64402	D	0.000001	D	0.87063	0.6084	M	0.72894	2.215	0.80722	D	1	P	0.37663	0.604	B	0.38803	0.282	T	0.82989	-0.0183	10	0.09843	T	0.71	.	9.4444	0.38688	0.1484:0.0:0.8516:0.0	.	272	Q7L1T6	NB5R4_HUMAN	S	272	ENSP00000358695:G272S	ENSP00000358695:G272S	G	+	1	0	CYB5R4	84691030	1.000000	0.71417	0.981000	0.43875	0.059000	0.15707	4.127000	0.57944	2.878000	0.98634	0.650000	0.86243	GGT		0.348	CYB5R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041362.4	NM_016230	Missense_Mutation	68	98	0	0	0	1	0	68	98					A	84634311	G	A	84634311	5	1	438	1	0	0	0	0	0	0	1	0	4129	1014	35	2	852	2	CYB5R4	6	84634311	Splice_Site	SNP	G	TCGA-FY-A3W9-01A-11D-A22D-08	34968716	84634311	86480756	17	8959											
HBS1L	10767	broad.mit.edu	37	chr6	135287541	135287541	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccagctctttaaagtcttTatatagctcaagagctattg	6	10	3	1			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr6:135287541T>C	ENST00000367837.5	-	17	2175	c.1969A>G	c.(1969-1971)Aaa>Gaa	p.K657E	HBS1L_ENST00000445176.2_Missense_Mutation_p.K381E|HBS1L_ENST00000367826.2_Missense_Mutation_p.K615E|HBS1L_ENST00000527578.1_Missense_Mutation_p.K493E|HBS1L_ENST00000415177.2_Missense_Mutation_p.K592E|HBS1L_ENST00000367824.4_Missense_Mutation_p.K493E	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	657					signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		TTAAAGTCTTTATATAGCTCA	0.363																																						ENST00000367837.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20						c.(1969-1971)Aaa>Gaa		HBS1-like (S. cerevisiae)							144	136	139					6																	135287541		2203	4300	6503	SO:0001583	missense	10767				signal transduction		GTP binding|GTPase activity|translation elongation factor activity	g.chr6:135287541T>C	U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"eRF3 family member"	612450	"HBS1 (S. cerevisiae)-like", "HBS1-like (S. cerevisiae)"			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.1969A>G	6.37:g.135287541T>C	ENSP00000356811:p.Lys657Glu					HBS1L_ENST00000367826.2_Missense_Mutation_p.K615E|HBS1L_ENST00000527578.1_Missense_Mutation_p.K493E|HBS1L_ENST00000415177.2_Missense_Mutation_p.K592E|HBS1L_ENST00000367824.4_Missense_Mutation_p.K493E|HBS1L_ENST00000445176.2_Missense_Mutation_p.K381E	p.K657E	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)	17	2175	-	Colorectal(23;0.221)		657					B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	ENST00000367837.5	37	c.1969A>G	CCDS5173.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.067518	0.76301	.	.	ENSG00000112339	ENST00000367837;ENST00000527578;ENST00000415177;ENST00000367826;ENST00000367824;ENST00000533274;ENST00000445176	T;T;T;T;T;T;T	0.64618	-0.11;-0.07;-0.07;-0.11;-0.07;-0.09;0.95	5.96	5.96	0.96718	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61489	0.2351	N	0.25031	0.7	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72625	0.962;0.978	T	0.69124	-0.5228	10	0.72032	D	0.01	-25.1187	16.4277	0.83824	0.0:0.0:0.0:1.0	.	615;657	Q9Y450-4;Q9Y450	.;HBS1L_HUMAN	E	657;493;592;615;493;527;381	ENSP00000356811:K657E;ENSP00000436256:K493E;ENSP00000389826:K592E;ENSP00000356800:K615E;ENSP00000356798:K493E;ENSP00000434533:K527E;ENSP00000415305:K381E	ENSP00000356798:K493E	K	-	1	0	HBS1L	135329234	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.470000	0.80973	2.279000	0.76181	0.533000	0.62120	AAA		0.363	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2			6	160	0	0	0	1	0	6	160					C	135287541	T	C	135287541	3	2	438	1	0	0	0	0	1	0	0	0	6987	1763	61	3	93	3	HBS1L	6	135287541	Missense_Mutation	SNP	T	TCGA-FY-A3W9-01A-11D-A22D-08	50653230	135287541	35827526	18	8960											
ESCO2	157570	broad.mit.edu	37	chr8	27634109	27634109	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaataagtggtacctcaAtccactggagagaaagctga	9	9	1	2			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr8:27634109A>G	ENST00000305188.8	+	3	522	c.284A>G	c.(283-285)aAt>aGt	p.N95S	RNU6-1276P_ENST00000365372.1_RNA|ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	95					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		TGGTACCTCAATCCACTGGAG	0.358									SC Phocomelia syndrome																													ENST00000305188.8																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(283-285)aAt>aGt		establishment of sister chromatid cohesion N-acetyltransferase 2							59	58	59					8																	27634109		2203	4300	6503	SO:0001583	missense	157570	SC Phocomelia syndrome	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr8:27634109A>G	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"Roberts syndrome", "establishment of cohesion 1 homolog 2 (S. cerevisiae)"	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.284A>G	8.37:g.27634109A>G	ENSP00000306999:p.Asn95Ser					ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR	p.N95S	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)	3	522	+		Ovarian(32;0.000953)	95					B3KW59|Q49AP4	Missense_Mutation	SNP	ENST00000305188.8	37	c.284A>G	CCDS34872.1	.	.	.	.	.	.	.	.	.	.	A	17.31	3.358100	0.61403	.	.	ENSG00000171320	ENST00000523566;ENST00000305188;ENST00000519637	T;T;T	0.68765	0.37;-0.35;0.38	5.63	3.2	0.36748	.	0.088893	0.85682	N	0.000000	T	0.61324	0.2338	M	0.71581	2.175	0.80722	D	1	P;B	0.42203	0.773;0.192	B;B	0.40782	0.34;0.048	T	0.56117	-0.8032	10	0.35671	T	0.21	-17.909	6.0197	0.19623	0.7505:0.1648:0.0847:0.0	.	95;95	E5RFE4;Q56NI9	.;ESCO2_HUMAN	S	95	ENSP00000428435:N95S;ENSP00000306999:N95S;ENSP00000428027:N95S	ENSP00000306999:N95S	N	+	2	0	ESCO2	27690028	0.984000	0.35163	0.999000	0.59377	0.972000	0.66771	0.986000	0.29590	0.480000	0.27534	0.482000	0.46254	AAT		0.358	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1	NM_001017420		7	44	0	0	0	1	0	7	44					G	27634109	A	G	27634109	3	3	438	1	0	0	0	0	1	0	0	0	5249	101	4	3	290	3	ESCO2	8	27634109	Missense_Mutation	SNP	A	TCGA-FY-A3W9-01A-11D-A22D-08		27634109	118729913	19	8961											
CA13	377677	broad.mit.edu	37	chr8	86178909	86178909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatgaaccagatggactgGctgtcttgggagtgttttta	12	7	2	2			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr8:86178909G>A	ENST00000321764.3	+	4	729	c.427G>A	c.(427-429)Gct>Act	p.A143T	CA13_ENST00000517298.1_3'UTR	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	143					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|myelin sheath (GO:0043209)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)	7					Zonisamide(DB00909)	AGATGGACTGGCTGTCTTGGG	0.418																																						ENST00000321764.3																			0				large_intestine(1)|lung(6)	7						c.(427-429)Gct>Act		carbonic anhydrase XIII							128	113	118					8																	86178909		2203	4300	6503	SO:0001583	missense	377677				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	g.chr8:86178909G>A	BC052602	CCDS6236.1	8q21	2004-05-10				ENSG00000185015		"Carbonic anhydrases"	14914	protein-coding gene	gene with protein product		611436				14600151	Standard	NM_198584		Approved	CAXIII, FLJ37995, MGC59868	uc003ydg.2	Q8N1Q1		ENST00000321764.3:c.427G>A	8.37:g.86178909G>A	ENSP00000318912:p.Ala143Thr					CA13_ENST00000517298.1_3'UTR	p.A143T	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN			4	729	+			143						Missense_Mutation	SNP	ENST00000321764.3	37	c.427G>A	CCDS6236.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.031701	0.93575	.	.	ENSG00000185015	ENST00000321764	T	0.78481	-1.18	5.49	4.61	0.57282	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	D	0.89196	0.6646	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.91320	0.5081	10	0.87932	D	0	-22.7973	15.5723	0.76349	0.0:0.1387:0.8613:0.0	.	143	Q8N1Q1	CAH13_HUMAN	T	143	ENSP00000318912:A143T	ENSP00000318912:A143T	A	+	1	0	CA13	86366161	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.531000	0.90610	1.442000	0.47568	0.655000	0.94253	GCT		0.418	CA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381066.1	NM_198584		38	38	0	0	0	1	0	38	38					A	86178909	G	A	86178909	3	1	438	1	0	0	0	0	1	0	0	0	2514	1203	42	2	441	2	CA13	8	86178909	Missense_Mutation	SNP	G	TCGA-FY-A3W9-01A-11D-A22D-08	58544800	86178909	60185113	20	8962											
CALCB	797	broad.mit.edu	37	chr11	15096620	15096620	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccacaggtctgccctggagAgcagcccagacccggccaca	11	17	1	2			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr11:15096620A>G	ENST00000533448.1	+	3	211	c.100A>G	c.(100-102)Agc>Ggc	p.S34G	CALCB_ENST00000523376.1_Missense_Mutation_p.S45G|CALCB_ENST00000324229.6_Missense_Mutation_p.S34G			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	34					cellular calcium ion homeostasis (GO:0006874)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						TGCCCTGGAGAGCAGCCCAGA	0.617											OREG0020793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000523376.1																			0				endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						c.(133-135)Agc>Ggc		calcitonin-related polypeptide beta							54	57	56					11																	15096620		2200	4294	6494	SO:0001583	missense	797				cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity	g.chr11:15096620A>G		CCDS7820.1	11p14.2-p12	2013-02-25	2008-02-20			ENSG00000175868		"Endogenous ligands"	1438	protein-coding gene	gene with protein product		114160	"calcitonin 2"	CALC2			Standard	NM_000728		Approved	FLJ30166, CGRP-II	uc001mlx.1	P10092		ENST00000533448.1:c.100A>G	11.37:g.15096620A>G	ENSP00000433490:p.Ser34Gly		OREG0020793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	700	CALCB_ENST00000533448.1_Missense_Mutation_p.S34G|CALCB_ENST00000324229.6_Missense_Mutation_p.S34G	p.S45G			P10092	CALCB_HUMAN			8	1395	+			34					A8K573|D3DQX4|Q569I0|Q9UCN9	Missense_Mutation	SNP	ENST00000533448.1	37	c.133A>G	CCDS7820.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.180995	0.38511	.	.	ENSG00000175868	ENST00000523376;ENST00000324229;ENST00000533448	T;T;T	0.25085	1.82;1.82;1.82	5.41	1.68	0.24146	.	0.296791	0.29948	N	0.010784	T	0.22044	0.0531	M	0.74881	2.28	0.24692	N	0.993306	B	0.15141	0.012	B	0.14578	0.011	T	0.26916	-1.0089	10	0.48119	T	0.1	.	0.4523	0.00503	0.3945:0.1319:0.2469:0.2267	.	34	P10092	CALCB_HUMAN	G	45;34;34	ENSP00000428882:S45G;ENSP00000346017:S34G;ENSP00000433490:S34G	ENSP00000346017:S34G	S	+	1	0	CALCB	15053196	1.000000	0.71417	0.981000	0.43875	0.774000	0.43823	1.994000	0.40757	0.989000	0.38761	0.459000	0.35465	AGC		0.617	CALCB-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387433.1	NM_000728		42	57	0	0	0	1	0	42	57					G	15096620	A	G	15096620	3	3	438	1	0	0	0	0	1	0	0	0	2576	304	11	3	106	3	CALCB	11	15096620	Missense_Mutation	SNP	A	TCGA-FY-A3W9-01A-11D-A22D-08		15096620	119909896	21	8963											
KDM2A	22992	broad.mit.edu	37	chr11	66995593	66995593	+	Frame_Shift_Del	DEL	C	C	-													gtactgcataaccaaccgttCccacctaactaaggaatttc							TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr11:66995593delC	ENST00000529006.2	+	11	1489	c.1043delC	c.(1042-1044)tccfs	p.S348fs	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Frame_Shift_Del_p.S348fs	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	348					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						ACCAACCGTTCCCACCTAACT	0.453																																						ENST00000529006.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						c.(1042-1044)tcfs		lysine (K)-specific demethylase 2A							186	178	181					11																	66995593		1895	4127	6022	SO:0001589	frameshift_variant	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:66995593delC	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13606	protein-coding gene	gene with protein product	"F-box protein FBL11", "jumonji C domain-containing histone demethylase 1A"	605657	"F-box and leucine-rich repeat protein 11"	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.1043delC	11.37:g.66995593delC	ENSP00000432786:p.Ser348fs					KDM2A_ENST00000398645.2_Frame_Shift_Del_p.S348fs|KDM2A_ENST00000526258.1_3'UTR	p.S348fs	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN			11	1489	+			348					D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Frame_Shift_Del	DEL	ENST00000529006.2	37	c.1043delC	CCDS44657.1																																																																																				0.453	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		70	88						70	88	---	---	---	---	-	66995593	C	-	66995593	7	5	438	1	0	1	0	1	0	0	0	0	8124	855	30	0	1081	0	KDM2A	11	66995593	Frame_Shift_Del	DEL	C	TCGA-FY-A3W9-01A-11D-A22D-08	51898973	66995593	68010923	22	8964											
EMG1	10436	broad.mit.edu	37	chr12	7080212	7080213	+	Splice_Site	INS	-	-	C													acaagatcggaggccgtagtINSttattgtggtgctggaaggg					rs11428482|rs374779752|rs17857448		TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr12:7080212_7080213insC	ENST00000261406.6	+	2	267_268	c.124_125insC	c.(124-126)ttt>tCtt	p.F42fs	PHB2_ENST00000535923.1_5'Flank|PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000544134.1_5'Flank|PHB2_ENST00000542912.1_5'Flank|PHB2_ENST00000546111.1_5'Flank|EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000440277.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		GAGGCCGTAGTTTATTGTGGTG	0.569																																						ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3746,4		1873,0,2						5.4	1.0		dbSNP_120	28	7902,2		3951,0,1	no	frameshift	EMG1	NM_006331.7		5824,0,3	A1A1,A1R,RR		0.0253,0.1067,0.0515				11648,6				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080212_7080213insC	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"EMG1 nucleolar protein homolog (S. cerevisiae)"			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->C	12.37:g.7080212_7080213insC						U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA				Q92979	NEP1_HUMAN			0	157_158	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Frame_Shift_Ins	7	22						7	22	---	---	---	---	C	7080213	-	C	7080212	8	5	438	1	0	1	1	0	0	0	1	0	5090	1722	60	0	128	0	EMG1	12	7080212	Splice_Site	INS	-	TCGA-FY-A3W9-01A-11D-A22D-08		7080212	126771683	23	8965											
SACS	26278	broad.mit.edu	37	chr13	23904954	23904954	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgttgatttcattctgcaaaTgtttaaaaacttcattggca	6	6	3	1			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr13:23904954T>A	ENST00000382292.3	-	9	13334	c.13061A>T	c.(13060-13062)cAt>cTt	p.H4354L	SACS_ENST00000382298.3_Missense_Mutation_p.H4354L|SACS_ENST00000402364.1_Missense_Mutation_p.H3604L			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4354	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATTCTGCAAATGTTTAAAAAC	0.383																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(13060-13062)cAt>cTt		spastic ataxia of Charlevoix-Saguenay (sacsin)							89	93	92					13																	23904954		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23904954T>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.13061A>T	13.37:g.23904954T>A	ENSP00000371729:p.His4354Leu					SACS_ENST00000402364.1_Missense_Mutation_p.H3604L|SACS_ENST00000382292.3_Missense_Mutation_p.H4354L	p.H4354L	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	13649	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	4354			J.		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.13061A>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	T	23.4	4.411280	0.83340	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	T;T;T	0.81163	-1.46;-1.46;-1.46	5.83	5.83	0.93111	Heat shock protein DnaJ, N-terminal (4);	0.000000	0.85682	D	0.000000	T	0.77994	0.4214	N	0.02916	-0.46	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.84688	0.0721	10	0.59425	D	0.04	.	16.2001	0.82067	0.0:0.0:0.0:1.0	.	4354	Q9NZJ4	SACS_HUMAN	L	4354;3604;4354	ENSP00000371729:H4354L;ENSP00000385844:H3604L;ENSP00000371735:H4354L	ENSP00000371729:H4354L	H	-	2	0	SACS	22802954	1.000000	0.71417	0.712000	0.30502	0.989000	0.77384	8.036000	0.88901	2.216000	0.71823	0.460000	0.39030	CAT		0.383	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		40	6	0	0	0	1	0	40	6					A	23904954	T	A	23904954	3	1	438	1	0	0	0	0	1	0	0	0	13804	1464	51	5	682	5	SACS	13	23904954	Missense_Mutation	SNP	T	TCGA-FY-A3W9-01A-11D-A22D-08		23904954	91264924	24	8966											
MYH7	4625	broad.mit.edu	37	chr14	23887535	23887535	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagctcggccttggcctcCgtctcctcctcgtactgctc	9	18	1	0	rs397516200		TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr14:23887535C>T	ENST00000355349.3	-	30	4215	c.4053G>A	c.(4051-4053)acG>acA	p.T1351T	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1351					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|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)	p.T1351T(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCTTGGCCTCCGTCTCCTCCT	0.672																																						ENST00000355349.3																			1	Substitution - coding silent(1)	p.T1351T(1)	lung(1)	NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(4051-4053)acG>acA		myosin, heavy chain 7, cardiac muscle, beta							64	57	60					14																	23887535		2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23887535C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4053G>A	14.37:g.23887535C>T							p.T1351T	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	30	4215	-	all_cancers(95;2.54e-05)		1351					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.4053G>A	CCDS9601.1																																																																																				0.672	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		3	110	0	0	0	1	0	3	110					T	23887535	C	T	23887535	2	4	438	1	0	0	0	0	0	0	0	1	10039	639	23	1		1	MYH7	14	23887535	Silent	SNP	C	TCGA-FY-A3W9-01A-11D-A22D-08		23887535	83462005	25	8967											
PKD1	5310	broad.mit.edu	37	chr16	2160529	2160529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgacgagcccccgcacgcGccgcttcaccgtcacattga	10	18	2	1			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr16:2160529G>A	ENST00000262304.4	-	15	4847	c.4639C>T	c.(4639-4641)Cgc>Tgc	p.R1547C	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.R1547C	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1547	PKD 10. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCCCGCACGCGCCGCTTCACC	0.647																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(4639-4641)Cgc>Tgc		polycystic kidney disease 1 (autosomal dominant)							43	48	46					16																	2160529		2195	4289	6484	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2160529G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.4639C>T	16.37:g.2160529G>A	ENSP00000262304:p.Arg1547Cys					PKD1_ENST00000423118.1_Missense_Mutation_p.R1547C	p.R1547C	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			15	4847	-			1547			PKD 10.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.4639C>T	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	g	13.21	2.168603	0.38315	.	.	ENSG00000008710	ENST00000262304;ENST00000423118	T;T	0.67698	-0.28;-0.28	5.36	3.38	0.38709	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (2);	0.126247	0.53938	D	0.000057	T	0.78162	0.4240	M	0.69823	2.125	0.35442	D	0.794935	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.943	T	0.82657	-0.0349	10	0.62326	D	0.03	.	10.3323	0.43829	0.0706:0.0:0.794:0.1353	.	1547;1547	P98161-3;P98161	.;PKD1_HUMAN	C	1547	ENSP00000262304:R1547C;ENSP00000399501:R1547C	ENSP00000262304:R1547C	R	-	1	0	PKD1	2100530	0.998000	0.40836	0.049000	0.19019	0.014000	0.08584	3.743000	0.55104	0.632000	0.30432	0.550000	0.68814	CGC		0.647	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			3	104	0	0	0	1	0	3	104					A	2160529	G	A	2160529	3	1	438	1	0	0	0	0	1	0	0	0	11963	1087	38	1	8400	1	PKD1	16	2160529	Missense_Mutation	SNP	G	TCGA-FY-A3W9-01A-11D-A22D-08		2160529	88194224	26	8968											
SPHK1	8877	broad.mit.edu	37	chr17	74383472	74383472	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgaatgcccctacttggtAtatgtgcccgtggtcgcctt	10	11	0	1			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr17:74383472A>G	ENST00000545180.1	+	8	1769	c.960A>G	c.(958-960)gtA>gtG	p.V320V	SPHK1_ENST00000590959.1_Silent_p.V334V|SPHK1_ENST00000323374.4_Silent_p.V406V|SPHK1_ENST00000592299.1_Silent_p.V320V|SPHK1_ENST00000392496.3_Silent_p.V320V			Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1	320					'de novo' posttranslational protein folding (GO:0051084)|blood vessel development (GO:0001568)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of smooth muscle contraction (GO:0045987)|protein folding (GO:0006457)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of interleukin-1 beta production (GO:0032651)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|response to amine (GO:0014075)|response to ATP (GO:0033198)|response to interleukin-1 (GO:0070555)|response to magnesium ion (GO:0032026)|response to progesterone (GO:0032570)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingoid catabolic process (GO:0046521)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)|protein phosphatase 2A binding (GO:0051721)|sphinganine kinase activity (GO:0008481)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	11					Fingolimod(DB08868)	CCTACTTGGTATATGTGCCCG	0.592																																					GBM(90;966 1307 27369 33775 44498)	ENST00000545180.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	11						c.(958-960)gtA>gtG		sphingosine kinase 1							88	79	82					17																	74383472		2203	4300	6503	SO:0001819	synonymous_variant	8877				'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process	cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction	ATP binding|calmodulin binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|DNA binding|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity	g.chr17:74383472A>G	BC030553	CCDS11744.1, CCDS45785.1, CCDS59297.1	17q25.2	2004-02-18				ENSG00000176170			11240	protein-coding gene	gene with protein product		603730				9726979	Standard	NM_182965		Approved	SPHK	uc002jrj.2	Q9NYA1		ENST00000545180.1:c.960A>G	17.37:g.74383472A>G						SPHK1_ENST00000323374.4_Silent_p.V406V|SPHK1_ENST00000392496.3_Silent_p.V320V|SPHK1_ENST00000590959.1_Silent_p.V334V|SPHK1_ENST00000592299.1_Silent_p.V320V	p.V320V			Q9NYA1	SPHK1_HUMAN			8	1769	+			320					Q8N632|Q96GK1|Q9HD92|Q9NY70|Q9NYL3	Silent	SNP	ENST00000545180.1	37	c.960A>G	CCDS45785.1																																																																																				0.592	SPHK1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450113.1	NM_182965, NM_021972		25	31	0	0	0	1	0	25	31					G	74383472	A	G	74383472	2	3	438	1	0	0	0	0	0	0	0	1	15045	436	16	3		3	SPHK1	17	74383472	Silent	SNP	A	TCGA-FY-A3W9-01A-11D-A22D-08		74383472	6811738	27	8969											
DBP	1628	broad.mit.edu	37	chr19	49139149	49139149	+	Frame_Shift_Del	DEL	C	C	-													ggaccctccgcccaccactgCcccagccggggcatccgccg							TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr19:49139149delC	ENST00000222122.5	-	2	681	c.238delG	c.(238-240)gcafs	p.A80fs	SEC1P_ENST00000430145.2_RNA|DBP_ENST00000593500.1_5'Flank|DBP_ENST00000599385.1_5'Flank|DBP_ENST00000601104.1_Frame_Shift_Del_p.A80fs	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein	80					liver development (GO:0001889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|rhythmic process (GO:0048511)	nucleus (GO:0005634)	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 regulatory region sequence-specific DNA binding (GO:0000977)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		CCCACCACTGCCCCAGCCGGG	0.761																																						ENST00000222122.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(238-240)cafs		D site of albumin promoter (albumin D-box) binding protein							2	2	2					19																	49139149		1428	3096	4524	SO:0001589	frameshift_variant	1628				regulation of transcription from RNA polymerase II promoter|rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:49139149delC	U06936	CCDS12728.1	19q13.33	2013-09-20			ENSG00000105516	ENSG00000105516			2697	protein-coding gene	gene with protein product		124097				1535333, 7835883	Standard	XR_243907		Approved	DABP	uc002pjx.4	Q10586	OTTHUMG00000183319	ENST00000222122.5:c.238delG	19.37:g.49139149delC	ENSP00000222122:p.Ala80fs					DBP_ENST00000601104.1_Frame_Shift_Del_p.A80fs	p.A80fs	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)	2	681	-		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	80					A2I2P4	Frame_Shift_Del	DEL	ENST00000222122.5	37	c.238delG	CCDS12728.1																																																																																				0.761	DBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466167.1	NM_001352		2	4						2	4	---	---	---	---	-	49139149	C	-	49139149	7	5	438	1	0	1	0	1	0	0	0	0	4256	739	26	0	751	0	DBP	19	49139149	Frame_Shift_Del	DEL	C	TCGA-FY-A3W9-01A-11D-A22D-08		49139149	9989834	28	8970											
GGA1	26088	broad.mit.edu	37	chr22	38013055	38013055	+	Intron	DEL	G	G	-													ccgccatgtgacgacaccaaGggaggccaagactgaggttc							TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr22:38013055delG	ENST00000343632.4	+	3	590				GGA1_ENST00000406772.1_Intron|GGA1_ENST00000405147.3_Intron|GGA1_ENST00000381756.5_Splice_Site_p.K85fs|GGA1_ENST00000337437.4_Intron|GGA1_ENST00000414350.3_Frame_Shift_Del_p.K85fs|GGA1_ENST00000325180.8_Intron	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1						intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					ACGACACCAAGGGAGGCCAAG	0.622																																						ENST00000414350.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10						c.(253-255)aafs		golgi-associated, gamma adaptin ear containing, ARF binding protein 1							36	39	38					22																	38013055		2194	4292	6486	SO:0001627	intron_variant	26088				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding	g.chr22:38013055delG	AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.204+51G>-	22.37:g.38013055delG						GGA1_ENST00000406772.1_Intron|GGA1_ENST00000405147.3_Intron|GGA1_ENST00000381756.5_Splice_Site_p.K85_splice|GGA1_ENST00000343632.4_Intron|GGA1_ENST00000337437.4_Intron|GGA1_ENST00000325180.8_Intron	p.K85fs	NM_001001561.2	NP_001001561.1	Q9UJY5	GGA1_HUMAN			3	642	+	Melanoma(58;0.0574)		0			VHS.		A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Frame_Shift_Del	DEL	ENST00000343632.4	37	c.255delG	CCDS13951.1																																																																																				0.622	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075873.3	NM_013365		2	4						2	4	---	---	---	---	-	38013055	G	-	38013055	6	5	438	0	1	1	0	1	0	0	0	0	6352	991	35	0		0	GGA1	22	38013055	Intron	DEL	G	TCGA-FY-A3W9-01A-11D-A22D-08		38013055	13291511	29	8971											
ESPN	83715	broad.mit.edu	37	chr1	6500762	6500762	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacttcgcggcgagccgcgGccacaccaaggtgctcagct	13	16	1	0	rs200602012		TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr1:6500762G>A	ENST00000377828.1	+	4	920	c.752G>A	c.(751-753)gGc>gAc	p.G251D	RP1-202O8.2_ENST00000419034.1_RNA	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	251					locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		GCGAGCCGCGGCCACACCAAG	0.726																																						ENST00000377828.1																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17						c.(751-753)gGc>gAc		espin							5	6	5					1																	6500762		1942	3927	5869	SO:0001583	missense	83715				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding	g.chr1:6500762G>A	AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"Ankyrin repeat domain containing"	13281	protein-coding gene	gene with protein product		606351	"deafness, autosomal recessive 36"	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.752G>A	1.37:g.6500762G>A	ENSP00000367059:p.Gly251Asp						p.G251D	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)	4	920	+	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)	251					Q6XYB2|Q9H0A2|Q9Y329	Missense_Mutation	SNP	ENST00000377828.1	37	c.752G>A	CCDS70.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650081	0.87958	.	.	ENSG00000187017	ENST00000377828;ENST00000418286	T;T	0.72394	-0.65;0.89	3.84	3.84	0.44239	Ankyrin repeat-containing domain (5);	0.233607	0.34959	N	0.003544	T	0.81772	0.4893	M	0.80982	2.52	0.80722	D	1	D	0.65815	0.995	D	0.63283	0.913	D	0.83857	0.0266	10	0.54805	T	0.06	-5.9744	12.6418	0.56714	0.0:0.0:1.0:0.0	.	251	B1AK53	ESPN_HUMAN	D	251;36	ENSP00000367059:G251D;ENSP00000401793:G36D	ENSP00000367059:G251D	G	+	2	0	ESPN	6423349	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.972000	0.93424	1.989000	0.58080	0.430000	0.28490	GGC		0.726	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001887.3	NM_031475		3	6	0	0	0	1	0	3	6					A	6500762	G	A	6500762	3	1	439	1	0	0	0	0	1	0	0	0	5254	1203	42	2	766	2	ESPN	1	6500762	Missense_Mutation	SNP	G	TCGA-FY-A3WA-01A-11D-A22D-08		6500762	242749859	1	8972											
SPHKAP	80309	broad.mit.edu	37	chr2	228882979	228882979	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttctggactggctgaccGttggggacctttgtccttcg	12	12	1	1	rs145565567		TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr2:228882979G>A	ENST00000392056.3	-	7	2637	c.2591C>T	c.(2590-2592)aCg>aTg	p.T864M	SPHKAP_ENST00000344657.5_Missense_Mutation_p.T864M	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	864						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.T864M(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTGGCTGACCGTTGGGGACCT	0.483																																						ENST00000392056.3																			2	Substitution - Missense(2)	p.T864M(2)	lung(2)	NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(2590-2592)aCg>aTg		SPHK1 interactor, AKAP domain containing		G	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	621	590	601		2591,2591	2.5	0.0	2	dbSNP_134	601	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	SPHKAP	NM_001142644.1,NM_030623.3	81,81	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging,probably-damaging	864/1701,864/1672	228882979	3,13003	2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228882979G>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2591C>T	2.37:g.228882979G>A	ENSP00000375909:p.Thr864Met					SPHKAP_ENST00000344657.5_Missense_Mutation_p.T864M	p.T864M	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	2637	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	864					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.2591C>T	CCDS46537.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	1.091	-0.664030	0.03428	2.27E-4	2.33E-4	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.12465	2.68;2.68	6.17	2.45	0.29901	.	1.670430	0.02349	N	0.075676	T	0.14056	0.0340	M	0.63428	1.95	0.09310	N	1	P;P	0.35226	0.491;0.481	B;B	0.23419	0.036;0.046	T	0.24512	-1.0158	10	0.42905	T	0.14	.	3.007	0.06032	0.1967:0.1209:0.5573:0.1251	.	864;864	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	M	864	ENSP00000375909:T864M;ENSP00000339886:T864M	ENSP00000339886:T864M	T	-	2	0	SPHKAP	228591223	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.133000	0.15912	0.187000	0.20147	0.655000	0.94253	ACG		0.483	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		4	157	0	0	0	1	0	4	157					A	228882979	G	A	228882979	3	1	439	1	0	0	0	0	1	0	0	0	15047	1145	40	1	2535	1	SPHKAP	2	228882979	Missense_Mutation	SNP	G	TCGA-FY-A3WA-01A-11D-A22D-08		228882979	14316394	2	8973											
DNASE1L3	1776	broad.mit.edu	37	chr3	58196559	58196559	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaggacctgacgttgaaGgagcagatcctcatggccag	12	11	1	3			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr3:58196559G>A	ENST00000394549.2	-	1	391	c.75C>T	c.(73-75)tcC>tcT	p.S25S	DNASE1L3_ENST00000318316.3_Silent_p.S25S|DNASE1L3_ENST00000483681.1_Silent_p.S25S|DNASE1L3_ENST00000486455.1_Silent_p.S25S	NM_004944.3	NP_004935.1	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	25					apoptotic DNA fragmentation (GO:0006309)|developmental programmed cell death (GO:0010623)|DNA metabolic process (GO:0006259)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		TGACGTTGAAGGAGCAGATCC	0.577																																					Esophageal Squamous(96;1069 1424 4841 43466 52325)	ENST00000483681.1																			0				breast(2)|large_intestine(4)|lung(6)	12						c.(73-75)tcC>tcT		deoxyribonuclease I-like 3							190	168	175					3																	58196559		2203	4300	6503	SO:0001819	synonymous_variant	1776				apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters	g.chr3:58196559G>A	AF047354	CCDS2886.1, CCDS58836.1	3p14.3	2008-05-15			ENSG00000163687	ENSG00000163687			2959	protein-coding gene	gene with protein product	"DNase gamma"	602244				9205125, 9714828, 14646506	Standard	NM_004944		Approved	DNAS1L3, LSD	uc003djo.2	Q13609	OTTHUMG00000159153	ENST00000394549.2:c.75C>T	3.37:g.58196559G>A						DNASE1L3_ENST00000394549.2_Silent_p.S25S|DNASE1L3_ENST00000318316.3_Silent_p.S25S|DNASE1L3_ENST00000486455.1_Silent_p.S25S	p.S25S			Q13609	DNSL3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)	3	656	-			25					B2R8B1|B7Z707|O75803	Silent	SNP	ENST00000394549.2	37	c.75C>T	CCDS2886.1																																																																																				0.577	DNASE1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353533.1	NM_004944		4	166	0	0	0	1	0	4	166					A	58196559	G	A	58196559	2	1	439	1	0	0	0	0	0	0	0	1	4663	987	35	2		2	DNASE1L3	3	58196559	Silent	SNP	G	TCGA-FY-A3WA-01A-11D-A22D-08		58196559	139825871	3	8974											
POLQ	10721	broad.mit.edu	37	chr3	121179063	121179063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcaagctgagagtagtcaGcagccagtattgaaccacct	10	10	2	2			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr3:121179063G>A	ENST00000264233.5	-	25	7114	c.6986C>T	c.(6985-6987)gCt>gTt	p.A2329V		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2329					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AGAGTAGTCAGCAGCCAGTAT	0.393								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(6985-6987)gCt>gTt	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							75	71	72					3																	121179063		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121179063G>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.6986C>T	3.37:g.121179063G>A	ENSP00000264233:p.Ala2329Val						p.A2329V	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	25	7114	-			2329					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.6986C>T	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532622	0.85812	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	D	0.97209	-4.29	5.6	5.6	0.85130	DNA-directed DNA polymerase, family A, palm domain (2);	0.111909	0.64402	D	0.000011	D	0.97980	0.9335	M	0.63843	1.955	0.42902	D	0.994235	D;D	0.71674	0.996;0.998	P;D	0.68039	0.873;0.955	D	0.98083	1.0405	10	0.45353	T	0.12	.	19.6126	0.95616	0.0:0.0:1.0:0.0	.	2329;1501	O75417;O75417-2	DPOLQ_HUMAN;.	V	1952;2329;2465	ENSP00000264233:A2329V	ENSP00000264233:A2329V	A	-	2	0	POLQ	122661753	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.217000	0.77982	2.630000	0.89119	0.591000	0.81541	GCT		0.393	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		3	67	0	0	0	1	0	3	67					A	121179063	G	A	121179063	3	1	439	1	0	0	0	0	1	0	0	0	12208	971	34	2	810	2	POLQ	3	121179063	Missense_Mutation	SNP	G	TCGA-FY-A3WA-01A-11D-A22D-08	62982504	121179063	76843367	4	8975											
TBC1D14	57533	broad.mit.edu	37	chr4	7032081	7032081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcattgcagaaagacagcCgggaaatggagaagggaagt	15	6	0	3			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr4:7032081C>T	ENST00000409757.4	+	14	2168	c.2044C>T	c.(2044-2046)Cgg>Tgg	p.R682W	TBC1D14_ENST00000448507.1_Missense_Mutation_p.R682W|TBC1D14_ENST00000451522.2_Missense_Mutation_p.R402W|RP11-367J11.2_ENST00000500031.1_RNA|TBC1D14_ENST00000410031.1_Missense_Mutation_p.R454W|TBC1D14_ENST00000446947.2_Missense_Mutation_p.R329W	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	682					negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						GAAAGACAGCCGGGAAATGGA	0.577																																						ENST00000409757.4																			0				breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						c.(2044-2046)Cgg>Tgg		TBC1 domain family, member 14							95	85	88					4																	7032081		2203	4300	6503	SO:0001583	missense	57533					intracellular	Rab GTPase activator activity	g.chr4:7032081C>T	AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.2044C>T	4.37:g.7032081C>T	ENSP00000386921:p.Arg682Trp					TBC1D14_ENST00000451522.2_Missense_Mutation_p.R402W|TBC1D14_ENST00000410031.1_Missense_Mutation_p.R454W|TBC1D14_ENST00000448507.1_Missense_Mutation_p.R682W|TBC1D14_ENST00000446947.2_Missense_Mutation_p.R329W	p.R682W	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN			14	2168	+			682					B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Missense_Mutation	SNP	ENST00000409757.4	37	c.2044C>T	CCDS3394.2	.	.	.	.	.	.	.	.	.	.	C	17.95	3.512988	0.64522	.	.	ENSG00000132405	ENST00000448507;ENST00000409757;ENST00000410031;ENST00000451522;ENST00000446947	T;T;T;T;T	0.08896	3.45;3.45;3.43;3.45;3.04	5.01	2.31	0.28768	.	0.220514	0.31312	N	0.007861	T	0.18383	0.0441	L	0.51422	1.61	0.45791	D	0.998671	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.74023	0.963;0.928;0.982	T	0.00379	-1.1777	10	0.49607	T	0.09	-17.0223	8.1902	0.31363	0.2797:0.6461:0.0:0.0742	.	329;402;682	F5GXK4;Q9P2M4-2;Q9P2M4	.;.;TBC14_HUMAN	W	682;682;454;402;329	ENSP00000404041:R682W;ENSP00000386921:R682W;ENSP00000386343:R454W;ENSP00000388886:R402W;ENSP00000405875:R329W	ENSP00000386921:R682W	R	+	1	2	TBC1D14	7082982	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	1.502000	0.35704	0.286000	0.22352	-0.324000	0.08512	CGG		0.577	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	NM_020773		29	58	0	0	0	1	0	29	58					T	7032081	C	T	7032081	3	4	439	1	0	0	0	0	1	0	0	0	15600	643	23	1	2101	1	TBC1D14	4	7032081	Missense_Mutation	SNP	C	TCGA-FY-A3WA-01A-11D-A22D-08		7032081	184122195	5	8976											
ATP6V0D2	245972	broad.mit.edu	37	chr8	87153698	87153698	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctccattcttccaagactgCatgtctgaaaatgctctaga	7	11	3	3			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr8:87153698C>A	ENST00000285393.3	+	4	643	c.501C>A	c.(499-501)tgC>tgA	p.C167*	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	167					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen ion transmembrane transporter activity (GO:0015078)			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						TCCAAGACTGCATGTCTGAAA	0.348																																						ENST00000285393.3																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						c.(499-501)tgC>tgA		ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2							128	127	127					8																	87153698		2203	4300	6503	SO:0001587	stop_gained	245972				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding	g.chr8:87153698C>A	AY079172	CCDS6241.1	8q21.3	2014-01-28	2006-01-20	2002-05-24	ENSG00000147614	ENSG00000147614		"ATPases / V-type"	18266	protein-coding gene	gene with protein product			"ATPase, H+ transporting, lysosomal 38kD, V0 subunit d isoform 2", "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 2", "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D2"			12384298	Standard	NM_152565		Approved	FLJ38708, VMA6, ATP6D2	uc003ydp.1	Q8N8Y2	OTTHUMG00000163637	ENST00000285393.3:c.501C>A	8.37:g.87153698C>A	ENSP00000285393:p.Cys167*					CTD-3118D11.2_ENST00000522679.1_RNA	p.C167*	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN			4	643	+			167						Nonsense_Mutation	SNP	ENST00000285393.3	37	c.501C>A	CCDS6241.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.647935	0.67358	.	.	ENSG00000147614	ENST00000285393	.	.	.	5.75	-4.44	0.03557	.	0.184375	0.49916	D	0.000128	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7971	15.8706	0.79117	0.0:0.7017:0.0:0.2983	.	.	.	.	X	167	.	ENSP00000285393:C167X	C	+	3	2	ATP6V0D2	87222814	0.915000	0.31059	0.963000	0.40424	0.286000	0.27126	0.001000	0.13038	-0.732000	0.04856	-0.312000	0.09012	TGC		0.348	ATP6V0D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374651.1	NM_152565		3	85	1	0	0.014758	1	0.0151269	3	85					A	87153698	C	A	87153698	4	1	439	1	0	0	0	0	0	1	0	0	1174	718	25	4	515	4	ATP6V0D2	8	87153698	Nonsense_Mutation	SNP	C	TCGA-FY-A3WA-01A-11D-A22D-08		87153698	59210324	6	8977											
TRAF1	7185	broad.mit.edu	37	chr9	123673658	123673658	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgccacaggccgactcatggCaccgcctggtgacattggtg	13	13	1	1			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr9:123673658C>A	ENST00000373887.3	-	6	3284	c.839G>T	c.(838-840)tGc>tTc	p.C280F	TRAF1_ENST00000540010.1_Missense_Mutation_p.C280F|TRAF1_ENST00000546084.1_Missense_Mutation_p.C158F	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	280	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				apoptotic process (GO:0006915)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein complex assembly (GO:0006461)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						CGACTCATGGCACCGCCTGGT	0.637																																						ENST00000373887.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						c.(838-840)tGc>tTc		TNF receptor-associated factor 1							49	42	45					9																	123673658		2203	4300	6503	SO:0001583	missense	7185				apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding	g.chr9:123673658C>A	AK090468	CCDS6825.1, CCDS55335.1	9q33-q34	2008-02-05			ENSG00000056558	ENSG00000056558			12031	protein-coding gene	gene with protein product		601711				8069916	Standard	NM_001190945		Approved	EBI6	uc010mvl.2	Q13077	OTTHUMG00000020578	ENST00000373887.3:c.839G>T	9.37:g.123673658C>A	ENSP00000362994:p.Cys280Phe					TRAF1_ENST00000546084.1_Missense_Mutation_p.C158F|TRAF1_ENST00000540010.1_Missense_Mutation_p.C280F	p.C280F	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN			6	3284	-			280			MATH.		B4DJ77|Q658U1|Q8NF13	Missense_Mutation	SNP	ENST00000373887.3	37	c.839G>T	CCDS6825.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.882024	0.51908	.	.	ENSG00000056558	ENST00000373887;ENST00000540010;ENST00000546084	T;T;T	0.41758	0.99;0.99;0.99	4.64	4.64	0.57946	TRAF-type (1);TRAF-like (1);MATH (3);	0.297563	0.33753	N	0.004593	T	0.22820	0.0551	N	0.12182	0.205	0.36665	D	0.878193	B	0.17852	0.024	B	0.11329	0.006	T	0.14952	-1.0454	10	0.09590	T	0.72	-21.8104	12.6316	0.56661	0.1769:0.8231:0.0:0.0	.	280	Q13077	TRAF1_HUMAN	F	280;280;158	ENSP00000362994:C280F;ENSP00000443183:C280F;ENSP00000438583:C158F	ENSP00000362994:C280F	C	-	2	0	TRAF1	122713479	0.903000	0.30736	1.000000	0.80357	0.990000	0.78478	2.013000	0.40942	2.286000	0.76751	0.563000	0.77884	TGC		0.637	TRAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053843.1	NM_005658		3	37	1	0	0.004672	1	0.00504084	3	37					A	123673658	C	A	123673658	3	1	439	1	0	0	0	0	1	0	0	0	16434	710	25	4	423	4	TRAF1	9	123673658	Missense_Mutation	SNP	C	TCGA-FY-A3WA-01A-11D-A22D-08		123673658	17539773	7	8978											
LYZL2	119180	broad.mit.edu	37	chr10	30915131	30915131	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccgtagtcgatgctgccGtcatccaggaccgtctgggc	13	13	2	0	rs374503421		TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr10:30915131G>A	ENST00000375318.2	-	3	395	c.339C>T	c.(337-339)gaC>gaT	p.D113D		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	67					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				CGATGCTGCCGTCATCCAGGA	0.587																																						ENST00000375318.2																			0				NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19						c.(337-339)gaC>gaT		lysozyme-like 2		G		0,4406		0,0,2203	157	118	131		339	-4.5	0.0	10		131	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LYZL2	NM_183058.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		113/195	30915131	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	119180				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr10:30915131G>A	AF139543	CCDS7167.2	10p11.23	2009-12-04			ENSG00000151033	ENSG00000151033			29613	protein-coding gene	gene with protein product		612748					Standard	NM_183058		Approved		uc001ivk.3	Q7Z4W2	OTTHUMG00000017898	ENST00000375318.2:c.339C>T	10.37:g.30915131G>A							p.D113D	NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN			3	395	-		Prostate(175;0.151)	67					Q6NZ69	Silent	SNP	ENST00000375318.2	37	c.339C>T	CCDS7167.2																																																																																				0.587	LYZL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047434.1	NM_183058		24	53	0	0	0	1	0	24	53					A	30915131	G	A	30915131	2	1	439	1	0	0	0	0	0	0	0	1	9132	1136	40	1		1	LYZL2	10	30915131	Silent	SNP	G	TCGA-FY-A3WA-01A-11D-A22D-08		30915131	104619616	8	8979											
GPR83	10888	broad.mit.edu	37	chr11	94129622	94129622	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgagacgtgcagtgagcaGtactgggcaaagcggctgac	16	9	0	3			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr11:94129622G>A	ENST00000243673.2	-	2	627	c.456C>T	c.(454-456)taC>taT	p.Y152Y	GPR83_ENST00000539203.2_Intron	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	152					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCAGTGAGCAGTACTGGGCAA	0.552																																						ENST00000243673.2																			0				NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19						c.(454-456)taC>taT		G protein-coupled receptor 83							169	123	138					11																	94129622		2201	4298	6499	SO:0001819	synonymous_variant	10888					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr11:94129622G>A	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"GPCR / Class A : Orphans"	4523	protein-coding gene	gene with protein product		605569	"G protein-coupled receptor 72"	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.456C>T	11.37:g.94129622G>A						GPR83_ENST00000539203.2_Intron	p.Y152Y	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN			2	627	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	152					B0M0K5|Q6NWR4|Q9P1Y8	Silent	SNP	ENST00000243673.2	37	c.456C>T	CCDS8297.1																																																																																				0.552	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540		3	117	0	0	0	1	0	3	117					A	94129622	G	A	94129622	2	1	439	1	0	0	0	0	0	0	0	1	6713	1024	36	2		2	GPR83	11	94129622	Silent	SNP	G	TCGA-FY-A3WA-01A-11D-A22D-08		94129622	40876894	9	8980											
CCNT1	904	broad.mit.edu	37	chr12	49087277	49087277	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtctcttcagagggtccccTtttacgagtagaactggaag	11	9	2	2			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr12:49087277T>C	ENST00000261900.3	-	9	1942	c.1720A>G	c.(1720-1722)Agg>Ggg	p.R574G		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	574	Ser-rich.				cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						GAGGGTCCCCTTTTACGAGTA	0.443																																						ENST00000261900.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						c.(1720-1722)Agg>Ggg		cyclin T1							79	82	81					12																	49087277		2203	4300	6503	SO:0001583	missense	904				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	g.chr12:49087277T>C	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.1720A>G	12.37:g.49087277T>C	ENSP00000261900:p.Arg574Gly						p.R574G	NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN			9	1942	-			574			Ser-rich.		A9XU13|E7EX76|O60581	Missense_Mutation	SNP	ENST00000261900.3	37	c.1720A>G	CCDS8766.1	.	.	.	.	.	.	.	.	.	.	T	15.10	2.731737	0.48939	.	.	ENSG00000129315	ENST00000261900	T	0.27890	1.64	4.96	3.72	0.42706	.	0.048574	0.85682	D	0.000000	T	0.35595	0.0937	N	0.17082	0.46	0.49687	D	0.999815	D	0.76494	0.999	D	0.78314	0.991	T	0.23691	-1.0181	10	0.72032	D	0.01	-12.1937	10.0406	0.42155	0.0:0.0:0.2965:0.7035	.	574	O60563	CCNT1_HUMAN	G	574	ENSP00000261900:R574G	ENSP00000261900:R574G	R	-	1	2	CCNT1	47373544	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.832000	0.39151	1.996000	0.58369	0.459000	0.35465	AGG		0.443	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		3	141	0	0	0	1	0	3	141					C	49087277	T	C	49087277	3	2	439	1	0	0	0	0	1	0	0	0	2934	1608	56	3	464	3	CCNT1	12	49087277	Missense_Mutation	SNP	T	TCGA-FY-A3WA-01A-11D-A22D-08		49087277	84764618	10	8981											
RAD51	5888	broad.mit.edu	37	chr15	41022057	41022057	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttccccatcagtttggtGtagcagtggtaatcactaat	8	10	2	0			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr15:41022057G>A	ENST00000267868.3	+	9	1049	c.781G>A	c.(781-783)Gta>Ata	p.V261I	RAD51_ENST00000530766.1_Intron|RAD51_ENST00000557850.1_Missense_Mutation_p.V164I|RAD51_ENST00000532743.1_Missense_Mutation_p.V262I|RAD51_ENST00000382643.3_Missense_Mutation_p.V262I|RAD51_ENST00000423169.2_Intron	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN	RAD51 recombinase	261					ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA unwinding involved in DNA replication (GO:0006268)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|mitotic recombination (GO:0006312)|positive regulation of DNA ligation (GO:0051106)|protein homooligomerization (GO:0051260)|reciprocal meiotic recombination (GO:0007131)|regulation of double-strand break repair via homologous recombination (GO:0010569)	condensed chromosome (GO:0000793)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|lateral element (GO:0000800)|mitochondrion (GO:0005739)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|PML body (GO:0016605)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA polymerase binding (GO:0070182)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|single-stranded DNA binding (GO:0003697)|single-stranded DNA-dependent ATPase activity (GO:0043142)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		TCAGTTTGGTGTAGCAGTGGT	0.443								Homologous recombination																														ENST00000267868.3																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9						c.(781-783)Gta>Ata	Homologous recombination	RAD51 recombinase							138	120	126					15																	41022057		2203	4300	6503	SO:0001583	missense	5888				DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination	mitochondrial matrix|nucleus|perinuclear region of cytoplasm|PML body	ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity	g.chr15:41022057G>A	D13804	CCDS10062.1, CCDS53931.1, CCDS53932.1	15q15.1	2014-06-12	2013-07-02		ENSG00000051180	ENSG00000051180			9817	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 5"	179617	"RAD51 (S. cerevisiae) homolog (E coli RecA homolog)", "RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)", "RAD51 homolog (S. cerevisiae)"	RAD51A, RECA		8358431, 8479919	Standard	NM_002875		Approved	HsRad51, HsT16930, BRCC5	uc010bbx.3	Q06609	OTTHUMG00000130067	ENST00000267868.3:c.781G>A	15.37:g.41022057G>A	ENSP00000267868:p.Val261Ile					RAD51_ENST00000423169.2_Intron|RAD51_ENST00000557850.1_Missense_Mutation_p.V164I|RAD51_ENST00000532743.1_Missense_Mutation_p.V262I|RAD51_ENST00000382643.3_Missense_Mutation_p.V262I|RAD51_ENST00000530766.1_Intron	p.V261I	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)	9	1049	+		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	261					B0FXP0|B2R8T6|Q6FHX9|Q6ZNA8|Q9BV60	Missense_Mutation	SNP	ENST00000267868.3	37	c.781G>A	CCDS10062.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.194289	0.58017	.	.	ENSG00000051180	ENST00000382642;ENST00000267868;ENST00000532743;ENST00000382643	T;T;T	0.40476	1.03;1.03;1.03	5.03	5.03	0.67393	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);ATPase, AAA+ type, core (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.125331	0.53938	D	0.000053	T	0.34106	0.0886	N	0.16743	0.435	0.80722	D	1	B;B	0.18863	0.031;0.031	B;B	0.33960	0.173;0.075	T	0.10965	-1.0607	10	0.18710	T	0.47	-16.3744	18.5504	0.91062	0.0:0.0:1.0:0.0	.	262;261	Q6ZNA8;Q06609	.;RAD51_HUMAN	I	164;261;262;262	ENSP00000267868:V261I;ENSP00000433924:V262I;ENSP00000372088:V262I	ENSP00000267868:V261I	V	+	1	0	RAD51	38809349	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.429000	0.97481	2.605000	0.88082	0.563000	0.77884	GTA		0.443	RAD51-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252358.1	NM_002875, NM_133487		3	93	0	0	0	1	0	3	93					A	41022057	G	A	41022057	3	1	439	1	0	0	0	0	1	0	0	0	12985	1377	48	2	936	2	RAD51	15	41022057	Missense_Mutation	SNP	G	TCGA-FY-A3WA-01A-11D-A22D-08		41022057	61509335	11	8982											
KRT32	3882	broad.mit.edu	37	chr17	39623409	39623409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaggcagctggctggccGgaaggtggtgggcaggcaga	22	7	0	2	rs141134486	byFrequency	TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr17:39623409G>A	ENST00000225899.3	-	1	272	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	RNU2-32P_ENST00000411193.1_RNA	NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	57	Head.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				CTGGCTGGCCGGAAGGTGGTG	0.652																																						ENST00000225899.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(169-171)Cgg>Tgg		keratin 32		G	TRP/ARG	1,4403		0,1,2201	33	38	36		169	-1.4	1.0	17	dbSNP_134	36	0,8596		0,0,4298	no	missense	KRT32	NM_002278.3	101	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	57/449	39623409	1,12999	2202	4298	6500	SO:0001583	missense	3882				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39623409G>A	X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"-", "Intermediate filaments type I, keratins (acidic)"	6449	protein-coding gene	gene with protein product	"hard keratin type I"	602760	"keratin, hair, acidic, 2"	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.169C>T	17.37:g.39623409G>A	ENSP00000225899:p.Arg57Trp						p.R57W	NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN			1	272	-		Breast(137;0.000812)	57			Head.			Missense_Mutation	SNP	ENST00000225899.3	37	c.169C>T	CCDS11393.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.261679	0.39995	2.27E-4	0.0	ENSG00000108759	ENST00000225899	D	0.82803	-1.65	5.38	-1.44	0.08856	.	0.210759	0.23612	N	0.046338	T	0.73125	0.3547	M	0.65975	2.015	0.36163	D	0.848217	B	0.15719	0.014	B	0.08055	0.003	T	0.59904	-0.7366	10	0.38643	T	0.18	.	1.6355	0.02741	0.1726:0.1283:0.4214:0.2776	.	57	Q14532	K1H2_HUMAN	W	57	ENSP00000225899:R57W	ENSP00000225899:R57W	R	-	1	2	KRT32	36876935	0.003000	0.15002	0.996000	0.52242	0.945000	0.59286	0.015000	0.13355	-0.037000	0.13646	0.563000	0.77884	CGG		0.652	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257293.1	NM_002278		3	95	0	0	0	1	0	3	95					A	39623409	G	A	39623409	3	1	439	1	0	0	0	0	1	0	0	0	8468	1115	39	1	1205	1	KRT32	17	39623409	Missense_Mutation	SNP	G	TCGA-FY-A3WA-01A-11D-A22D-08		39623409	41571801	12	8983											
POTEC	388468	broad.mit.edu	37	chr18	14543133	14543133	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcagcgggcattgaacaaaCctcagtcaccatctgctttt	9	12	3	1			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr18:14543133C>A	ENST00000358970.5	-	1	12	c.13G>T	c.(13-15)Gtt>Ttt	p.V5F	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	5										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						ATTGAACAAACCTCAGTCACC	0.552																																						ENST00000358970.5																			0				NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(13-15)Gtt>Ttt		POTE ankyrin domain family, member C							106	89	94					18																	14543133		692	1591	2283	SO:0001583	missense	388468							g.chr18:14543133C>A	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33894	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 6"		"ANKRD26-like family B, member 2"	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.13G>T	18.37:g.14543133C>A	ENSP00000351856:p.Val5Phe					POTEC_ENST00000389891.4_5'UTR	p.V5F	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			1	12	-			5						Missense_Mutation	SNP	ENST00000358970.5	37	c.13G>T	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.648459	0.29336	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.34667	1.35	1.02	-0.15	0.13416	.	.	.	.	.	T	0.28466	0.0704	L	0.34521	1.04	0.09310	N	1	P	0.52170	0.951	P	0.46825	0.528	T	0.15809	-1.0424	9	0.87932	D	0	.	4.5872	0.12287	0.0:0.5859:0.4141:0.0	.	5	B2RU33	POTEC_HUMAN	F	5	ENSP00000351856:V5F	ENSP00000351856:V5F	V	-	1	0	POTEC	14533133	0.009000	0.17119	0.002000	0.10522	0.014000	0.08584	0.732000	0.26072	-0.073000	0.12842	0.197000	0.17608	GTT		0.552	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		31	52	1	0	1.465e-08	1	1.76662e-08	31	52					A	14543133	C	A	14543133	3	1	439	1	0	0	0	0	1	0	0	0	12262	507	18	4	1659	4	POTEC	18	14543133	Missense_Mutation	SNP	C	TCGA-FY-A3WA-01A-11D-A22D-08		14543133	63534115	13	8984											
PIAS2	9063	broad.mit.edu	37	chr18	44470887	44470887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggattttaatctgaaccGcagggctgcagccgctcttc	10	13	2	1			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr18:44470887G>A	ENST00000585916.1	-	2	154	c.155C>T	c.(154-156)gCg>gTg	p.A52V	PIAS2_ENST00000545673.1_Intron|PIAS2_ENST00000324794.7_Missense_Mutation_p.A52V	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	52					androgen receptor signaling pathway (GO:0030521)|negative regulation of androgen receptor signaling pathway (GO:0060766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|regulation of osteoblast differentiation (GO:0045667)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						AATCTGAACCGCAGGGCTGCA	0.448																																						ENST00000585916.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						c.(154-156)gCg>gTg		protein inhibitor of activated STAT, 2							66	68	67					18																	44470887		2203	4300	6503	SO:0001583	missense	9063				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding	g.chr18:44470887G>A	AF077953	CCDS32824.1, CCDS32825.1	18q12.1-q12.3	2011-10-11				ENSG00000078043		"Zinc fingers, MIZ-type"	17311	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 4"	603567				9724754, 9256341	Standard	NM_004671		Approved	PIASX-BETA, miz, PIASX-ALPHA, ZMIZ4	uc002lck.3	O75928		ENST00000585916.1:c.155C>T	18.37:g.44470887G>A	ENSP00000465676:p.Ala52Val					PIAS2_ENST00000324794.7_Missense_Mutation_p.A52V|PIAS2_ENST00000545673.1_Intron	p.A52V	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN			2	154	-			52					O75927|Q96BT5|Q96KE3	Missense_Mutation	SNP	ENST00000585916.1	37	c.155C>T	CCDS32824.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.606423	0.46527	.	.	ENSG00000078043	ENST00000398654;ENST00000262161;ENST00000398651;ENST00000324794	T	0.34275	1.37	6.06	5.19	0.71726	DNA-binding SAP (1);	0.110818	0.64402	N	0.000012	T	0.29976	0.0750	L	0.38838	1.175	0.80722	D	1	B;B;B;B	0.25169	0.119;0.008;0.029;0.007	B;B;B;B	0.23018	0.043;0.008;0.029;0.013	T	0.04565	-1.0942	10	0.25106	T	0.35	-4.3726	15.1526	0.72713	0.0671:0.0:0.9329:0.0	.	56;52;52;52	O75928-3;Q2TA77;O75928-2;O75928	.;.;.;PIAS2_HUMAN	V	52;52;48;52	ENSP00000317163:A52V	ENSP00000262161:A52V	A	-	2	0	PIAS2	42724885	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	6.550000	0.73905	1.578000	0.49821	0.650000	0.86243	GCG		0.448	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445656.2	NM_004671		3	53	0	0	0	1	0	3	53					A	44470887	G	A	44470887	3	1	439	1	0	0	0	0	1	0	0	0	11876	1087	38	1	1837	1	PIAS2	18	44470887	Missense_Mutation	SNP	G	TCGA-FY-A3WA-01A-11D-A22D-08	29927754	44470887	33606361	14	8985											
SERPINB4	6318	broad.mit.edu	37	chr18	61309020	61309020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaattgatacgtcttttctcCgaagagcttgttggcgatct	9	8	3	2	rs267605228		TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr18:61309020C>T	ENST00000341074.5	-	4	440	c.325G>A	c.(325-327)Gga>Aga	p.G109R	SERPINB4_ENST00000356424.6_Missense_Mutation_p.G109R	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	109					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.G109*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						GTCTTTTCTCCGAAGAGCTTG	0.413													C|||	1	0.000199681	8e-04	0	5008	,	,		20596	0		0	False		,,,				2504	0					ENST00000341074.5																			1	Substitution - Nonsense(1)	p.G109*(1)	lung(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(325-327)Gga>Aga		serpin peptidase inhibitor, clade B (ovalbumin), member 4							237	219	225					18																	61309020		2203	4300	6503	SO:0001583	missense	6318							g.chr18:61309020C>T	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"Serine (or cysteine) peptidase inhibitors"	10570	protein-coding gene	gene with protein product	"squamous cell carcinoma antigen 2"	600518	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.325G>A	18.37:g.61309020C>T	ENSP00000343445:p.Gly109Arg					SERPINB4_ENST00000356424.6_Missense_Mutation_p.G109R	p.G109R	NM_002974.2	NP_002965.1					4	440	-								A8K847	Missense_Mutation	SNP	ENST00000341074.5	37	c.325G>A	CCDS11986.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.220669	0.58560	.	.	ENSG00000206073	ENST00000341074;ENST00000356424	D;D	0.84873	-1.91;-1.91	3.76	1.93	0.25924	Serpin domain (3);	1.026050	0.07803	N	0.956916	D	0.91925	0.7443	M	0.92169	3.28	0.30751	N	0.745066	D;D	0.61080	0.975;0.989	P;P	0.55508	0.541;0.777	D	0.83714	0.0189	10	0.72032	D	0.01	.	8.7289	0.34487	0.0:0.8059:0.0:0.1941	.	109;109	P48594;Q9BYF7	SPB4_HUMAN;.	R	109	ENSP00000343445:G109R;ENSP00000348795:G109R	ENSP00000343445:G109R	G	-	1	0	SERPINB4	59460000	0.000000	0.05858	0.015000	0.15790	0.001000	0.01503	0.399000	0.20916	0.373000	0.24621	0.603000	0.83216	GGA		0.413	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		74	116	0	0	0	1	0	74	116					T	61309020	C	T	61309020	3	4	439	1	0	0	0	0	1	0	0	0	14103	661	23	1	867	1	SERPINB4	18	61309020	Missense_Mutation	SNP	C	TCGA-FY-A3WA-01A-11D-A22D-08	16838133	61309020	16768228	15	8986											
SERPINB4	6318	broad.mit.edu	37	chr18	61310686	61310686	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgttgtctttggctcctaaGaggaccatccctaatgctga	10	10	1	2			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr18:61310686G>A	ENST00000341074.5	-	2	241	c.126C>T	c.(124-126)ctC>ctT	p.L42L	SERPINB4_ENST00000356424.6_Silent_p.L42L	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	42					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TGGCTCCTAAGAGGACCATCC	0.433																																						ENST00000341074.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(124-126)ctC>ctT		serpin peptidase inhibitor, clade B (ovalbumin), member 4							240	209	220					18																	61310686		2203	4300	6503	SO:0001819	synonymous_variant	6318							g.chr18:61310686G>A	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"Serine (or cysteine) peptidase inhibitors"	10570	protein-coding gene	gene with protein product	"squamous cell carcinoma antigen 2"	600518	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.126C>T	18.37:g.61310686G>A						SERPINB4_ENST00000356424.6_Silent_p.L42L	p.L42L	NM_002974.2	NP_002965.1					2	241	-								A8K847	Silent	SNP	ENST00000341074.5	37	c.126C>T	CCDS11986.1	.	.	.	.	.	.	.	.	.	.	G	2.169	-0.390398	0.04932	.	.	ENSG00000206073	ENST00000413673	.	.	.	3.83	-2.98	0.05513	.	.	.	.	.	T	0.18130	0.0435	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23976	-1.0173	4	.	.	.	.	1.4697	0.02413	0.3835:0.2499:0.2466:0.12	.	.	.	.	F	44	.	.	S	-	2	0	SERPINB4	59461666	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.891000	0.00709	-0.745000	0.04772	-0.442000	0.05670	TCT		0.433	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		3	149	0	0	0	1	0	3	149					A	61310686	G	A	61310686	2	1	439	1	0	0	0	0	0	0	0	1	14103	929	33	2		2	SERPINB4	18	61310686	Silent	SNP	G	TCGA-FY-A3WA-01A-11D-A22D-08	1666	61310686	16766562	16	8987											
MLLT1	4298	broad.mit.edu	37	chr19	6230647	6230647	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaaggtgagcttctcgcaGcgcaggtggttcacgggcgg	17	9	2	2			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr19:6230647G>A	ENST00000252674.7	-	4	517	c.354C>T	c.(352-354)cgC>cgT	p.R118R		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	118					negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						GCTTCTCGCAGCGCAGGTGGT	0.632			T	MLL	AL																																	ENST00000252674.7				Dom	yes		19	19p13.3	4298	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"			L	MLL		AL		0				endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						c.(352-354)cgC>cgT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1							158	157	157					19																	6230647		2203	4300	6503	SO:0001819	synonymous_variant	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6230647G>A		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.354C>T	19.37:g.6230647G>A							p.R118R	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN			4	517	-			118					Q14768	Silent	SNP	ENST00000252674.7	37	c.354C>T	CCDS12160.1																																																																																				0.632	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		3	97	0	0	0	1	0	3	97					A	6230647	G	A	6230647	2	1	439	1	0	0	0	0	0	0	0	1	9625	958	34	2		2	MLLT1	19	6230647	Silent	SNP	G	TCGA-FY-A3WA-01A-11D-A22D-08		6230647	52898336	17	8988											
BCL2L12	83596	broad.mit.edu	37	chr19	50170383	50170383	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgagtcccctcggccttgctCtctgcccatccgcccctgct	8	20	1	1			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr19:50170383C>G	ENST00000246785.3	+	3	725	c.467C>G	c.(466-468)tCt>tGt	p.S156C	IRF3_ENST00000599144.1_5'Flank|IRF3_ENST00000377135.4_5'Flank|IRF3_ENST00000596822.1_5'Flank|IRF3_ENST00000597198.1_5'Flank|BCL2L12_ENST00000441864.2_Missense_Mutation_p.S155C|IRF3_ENST00000596765.1_5'Flank|IRF3_ENST00000377139.3_5'Flank|BCL2L12_ENST00000246784.3_Intron|IRF3_ENST00000593922.1_5'Flank|IRF3_ENST00000598808.1_5'Flank|IRF3_ENST00000601291.1_5'Flank|IRF3_ENST00000442265.2_5'Flank|IRF3_ENST00000599223.1_5'Flank|IRF3_ENST00000600022.1_5'Flank|IRF3_ENST00000309877.7_5'Flank|IRF3_ENST00000600911.1_5'Flank	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	156					inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		CGGCCTTGCTCTCTGCCCATC	0.567																																						ENST00000246785.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8						c.(466-468)tCt>tGt		BCL2-like 12 (proline rich)							111	123	119					19																	50170383		2203	4300	6503	SO:0001583	missense	83596				apoptosis			g.chr19:50170383C>G	AF289220	CCDS12776.1, CCDS46144.1, CCDS74424.1, CCDS74423.1	19q13.3	2014-03-07				ENSG00000126453			13787	protein-coding gene	gene with protein product		610837					Standard	NM_001040668		Approved		uc002ppa.3	Q9HB09		ENST00000246785.3:c.467C>G	19.37:g.50170383C>G	ENSP00000246785:p.Ser156Cys					BCL2L12_ENST00000246784.3_Intron|BCL2L12_ENST00000441864.2_Missense_Mutation_p.S155C	p.S156C	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)	3	725	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	156					Q3SY11|Q3SY13|Q96I96|Q9HB08	Missense_Mutation	SNP	ENST00000246785.3	37	c.467C>G	CCDS12776.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.347528	0.61183	.	.	ENSG00000126453	ENST00000246785;ENST00000441864	T;T	0.50813	0.73;0.73	3.53	2.49	0.30216	.	0.436858	0.17115	N	0.186458	T	0.38825	0.1055	N	0.19112	0.55	0.80722	D	1	D;D	0.61697	0.99;0.99	P;P	0.53450	0.726;0.726	T	0.11842	-1.0571	10	0.35671	T	0.21	-11.9185	6.1719	0.20422	0.0:0.8573:0.0:0.1427	.	155;156	Q3SY13;Q9HB09	.;B2L12_HUMAN	C	156;155	ENSP00000246785:S156C;ENSP00000393803:S155C	ENSP00000246785:S156C	S	+	2	0	BCL2L12	54862195	0.985000	0.35326	0.991000	0.47740	0.942000	0.58702	0.842000	0.27627	1.041000	0.40125	0.561000	0.74099	TCT		0.567	BCL2L12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465770.1	NM_052842		20	343	0	0	0	1	0	20	343					G	50170383	C	G	50170383	3	3	439	1	0	0	0	0	1	0	0	0	1370	913	32	4	477	4	BCL2L12	19	50170383	Missense_Mutation	SNP	C	TCGA-FY-A3WA-01A-11D-A22D-08	43939736	50170383	8958600	18	8989											
ATF5	22809	broad.mit.edu	37	chr19	50435928	50435928	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accagccccctccctcccccTgtccctcccctcctttgacc	3	26	0	1			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr19:50435928T>C	ENST00000423777.2	+	3	805	c.428T>C	c.(427-429)cTg>cCg	p.L143P	NUP62_ENST00000422090.2_5'Flank|CTC-326K19.6_ENST00000451973.1_Intron|ATF5_ENST00000595125.1_Missense_Mutation_p.L143P|MIR4751_ENST00000578027.1_RNA|NUP62_ENST00000352066.3_5'Flank	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	143	Interaction with PTP4A1. {ECO:0000250}.				multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|olfactory bulb interneuron development (GO:0021891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)|transcription corepressor activity (GO:0003714)			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	Pseudoephedrine(DB00852)	TCCCTCCCCCTGTCCCTCCCC	0.657																																					GBM(48;768 989 9196 9511 26329)	ENST00000423777.2																			0				NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7						c.(427-429)cTg>cCg		activating transcription factor 5							6	6	6					19																	50435928		2123	4096	6219	SO:0001583	missense	22809				regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:50435928T>C	AF101388	CCDS12789.1	19q13.33	2013-09-20			ENSG00000169136	ENSG00000169136		"basic leucine zipper proteins"	790	protein-coding gene	gene with protein product		606398				10373550	Standard	NM_012068		Approved		uc002prd.3	Q9Y2D1	OTTHUMG00000183065	ENST00000423777.2:c.428T>C	19.37:g.50435928T>C	ENSP00000396954:p.Leu143Pro					ATF5_ENST00000595125.1_Missense_Mutation_p.L143P|CTC-326K19.6_ENST00000451973.1_Intron	p.L143P	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	3	805	+		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	143			Interaction with PTP4A1 (By similarity).		B3KND3|Q9BSA1|Q9UNQ3	Missense_Mutation	SNP	ENST00000423777.2	37	c.428T>C	CCDS12789.1	.	.	.	.	.	.	.	.	.	.	T	6.343	0.431446	0.12045	.	.	ENSG00000169136	ENST00000423777	T	0.25250	1.81	3.87	-0.808	0.10868	.	0.418950	0.18784	U	0.131255	T	0.12475	0.0303	L	0.29908	0.895	0.20764	N	0.999859	B	0.02656	0.0	B	0.01281	0.0	T	0.17837	-1.0356	10	0.30078	T	0.28	-0.2222	0.8661	0.01204	0.1632:0.2959:0.1675:0.3734	.	143	Q9Y2D1	ATF5_HUMAN	P	143	ENSP00000396954:L143P	ENSP00000396954:L143P	L	+	2	0	ATF5	55127740	0.389000	0.25205	0.000000	0.03702	0.003000	0.03518	2.290000	0.43531	-0.507000	0.06549	0.368000	0.22195	CTG		0.657	ATF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464915.2			6	20	0	0	0	1	0	6	20					C	50435928	T	C	50435928	3	2	439	1	0	0	0	0	1	0	0	0	1083	1580	55	3	434	3	ATF5	19	50435928	Missense_Mutation	SNP	T	TCGA-FY-A3WA-01A-11D-A22D-08	265545	50435928	8693055	19	8990											
ZNF8	7554	broad.mit.edu	37	chr19	58806382	58806382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacgagtgtaaccactgcgGgaagggcttcaggcacagct	13	11	1	0			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr19:58806382G>A	ENST00000196548.5	+	4	1339	c.1208G>A	c.(1207-1209)gGg>gAg	p.G403E	ZNF8_ENST00000608843.1_Missense_Mutation_p.G403E|AC010642.1_ENST00000591325.1_3'UTR			P17098	ZNF8_HUMAN	zinc finger protein 8	403					BMP signaling pathway (GO:0030509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		AACCACTGCGGGAAGGGCTTC	0.602																																						ENST00000196548.5																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19						c.(1207-1209)gGg>gAg		zinc finger protein 8							61	58	59					19																	58806382		2203	4300	6503	SO:0001583	missense	7554				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58806382G>A	M29581	CCDS12974.1	19q13.43	2013-01-08	2006-05-09					"Zinc fingers, C2H2-type", "-"	13154	protein-coding gene	gene with protein product		194532	"zinc finger protein 8 (clone HF.18)"			2106481	Standard	NM_021089		Approved	HF.18, Zfp128	uc002qry.1	P17098		ENST00000196548.5:c.1208G>A	19.37:g.58806382G>A	ENSP00000196548:p.Gly403Glu					AC010642.1_ENST00000591325.1_3'UTR	p.G403E	NM_021089.2	NP_066575.2	P17098	ZNF8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)	4	1339	+		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)	403					Q6PI99	Missense_Mutation	SNP	ENST00000196548.5	37	c.1208G>A	CCDS12974.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.992736	0.74703	.	.	ENSG00000083842	ENST00000196548;ENST00000546178	T	0.07114	3.22	4.82	4.82	0.62117	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49916	D	0.000133	T	0.15305	0.0369	L	0.37850	1.14	0.42390	D	0.992524	D	0.76494	0.999	P	0.60068	0.868	T	0.00254	-1.1874	10	0.59425	D	0.04	-17.7075	10.7866	0.46409	0.0888:0.0:0.9112:0.0	.	403	P17098	ZNF8_HUMAN	E	403;118	ENSP00000196548:G403E	ENSP00000196548:G403E	G	+	2	0	ZNF8	63498194	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.919000	0.56439	2.671000	0.90904	0.644000	0.83932	GGG		0.602	ZNF8-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000459135.1	NM_021089		3	129	0	0	0	1	0	3	129					A	58806382	G	A	58806382	3	1	439	1	0	0	0	0	1	0	0	0	18164	1232	43	2	1222	2	ZNF8	19	58806382	Missense_Mutation	SNP	G	TCGA-FY-A3WA-01A-11D-A22D-08	8370454	58806382	322601	20	8991											
CLIC6	54102	broad.mit.edu	37	chr21	36088676	36088676	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaatgactggcatctggAgatacttgaataatgcttat	9	6	1	4			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr21:36088676A>G	ENST00000360731.3	+	7	2011	c.2011A>G	c.(2011-2013)Aga>Gga	p.R671G	CLIC6_ENST00000349499.2_Missense_Mutation_p.R653G			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	671	GST C-terminal.					chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						TGGCATCTGGAGATACTTGAA	0.363																																						ENST00000360731.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(2011-2013)Aga>Gga		chloride intracellular channel 6							144	136	139					21																	36088676		2203	4300	6503	SO:0001583	missense	54102					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity	g.chr21:36088676A>G	AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"Ion channels / Chloride channels : Intracellular"	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.2011A>G	21.37:g.36088676A>G	ENSP00000353959:p.Arg671Gly					CLIC6_ENST00000349499.2_Missense_Mutation_p.R653G	p.R671G			Q96NY7	CLIC6_HUMAN			7	2011	+			671			GST C-terminal.		A8K0U8|Q8IX31	Missense_Mutation	SNP	ENST00000360731.3	37	c.2011A>G		.	.	.	.	.	.	.	.	.	.	A	18.47	3.630301	0.67015	.	.	ENSG00000159212	ENST00000360731;ENST00000349499	D;D	0.94092	-3.35;-3.35	5.85	4.68	0.58851	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96929	0.8997	M	0.88241	2.94	0.54753	D	0.999981	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.97089	0.9789	10	0.87932	D	0	-3.7579	13.2783	0.60200	0.8677:0.1323:0.0:0.0	.	671;653	Q96NY7;Q96NY7-2	CLIC6_HUMAN;.	G	671;653	ENSP00000353959:R671G;ENSP00000290332:R653G	ENSP00000290332:R653G	R	+	1	2	CLIC6	35010546	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.403000	0.66338	1.021000	0.39600	0.460000	0.39030	AGA		0.363	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1			6	93	0	0	0	1	0	6	93					G	36088676	A	G	36088676	3	3	439	1	0	0	0	0	1	0	0	0	3530	296	11	3	1979	3	CLIC6	21	36088676	Missense_Mutation	SNP	A	TCGA-FY-A3WA-01A-11D-A22D-08		36088676	12041219	21	8992											
AMOT	154796	broad.mit.edu	37	chrX	112058796	112058796	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgtggctgctgctgctgCtgttgttggtggtgatggtg	18	6	0	1			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chrX:112058796C>T	ENST00000524145.1	-	3	1256	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	AMOT_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371959.3_Silent_p.Q394Q			Q4VCS5	AMOT_HUMAN	angiomotin	394					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)	p.Q394Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						gctgctgctgctgttgttggt	0.582																																						ENST00000371959.3																			1	Substitution - coding silent(1)	p.Q394Q(1)	lung(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1180-1182)caG>caA		angiomotin							38	34	36					X																	112058796		2203	4300	6503	SO:0001819	synonymous_variant	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112058796C>T	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1182G>A	X.37:g.112058796C>T						AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000524145.1_Silent_p.Q394Q|AMOT_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000371962.1_Silent_p.Q162Q	p.Q394Q	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			2	1181	-			394					Q504X5|Q9HD27|Q9UPT1	Silent	SNP	ENST00000524145.1	37	c.1182G>A	CCDS48154.1																																																																																				0.582	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		3	50	0	0	0	1	0	3	50					T	112058796	C	T	112058796	2	4	439	1	0	0	0	0	0	0	0	1	582	796	28	2		2	AMOT	23	112058796	Silent	SNP	C	TCGA-FY-A3WA-01A-11D-A22D-08		112058796	43211764	22	8993											
GRHL3	57822	broad.mit.edu	37	chr1	24669233	24669233	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggaagcagttccggaggaAggtcaagtgccctgactcca	14	11	1	1			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr1:24669233A>G	ENST00000350501.5	+	10	1383	c.1256A>G	c.(1255-1257)aAg>aGg	p.K419R	GRHL3_ENST00000361548.4_Missense_Mutation_p.K419R|GRHL3_ENST00000356046.2_Missense_Mutation_p.K373R|GRHL3_ENST00000236255.4_Missense_Mutation_p.K424R|GRHL3_ENST00000342072.4_Missense_Mutation_p.K326R	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	419					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TTCCGGAGGAAGGTCAAGTGC	0.642																																						ENST00000361548.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1255-1257)aAg>aGg		grainyhead-like 3 (Drosophila)							88	88	88					1																	24669233		2203	4300	6503	SO:0001583	missense	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24669233A>G	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"transcription factor CP2-like 4"	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.1256A>G	1.37:g.24669233A>G	ENSP00000288955:p.Lys419Arg					GRHL3_ENST00000356046.2_Missense_Mutation_p.K373R|GRHL3_ENST00000350501.5_Missense_Mutation_p.K419R|GRHL3_ENST00000342072.4_Missense_Mutation_p.K326R|GRHL3_ENST00000236255.4_Missense_Mutation_p.K424R	p.K419R	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	10	1486	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	419					A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	c.1256A>G	CCDS252.2	.	.	.	.	.	.	.	.	.	.	A	17.49	3.403075	0.62288	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24	4.96	4.96	0.65561	.	0.151805	0.64402	D	0.000019	T	0.13884	0.0336	L	0.33792	1.035	0.80722	D	1	B;B;B	0.28082	0.134;0.2;0.2	B;B;B	0.26416	0.064;0.069;0.069	T	0.08868	-1.0701	10	0.23891	T	0.37	-34.9359	13.9772	0.64279	1.0:0.0:0.0:0.0	.	373;424;419	A2A297;Q8TE85-2;G3XAF0	.;.;.	R	419;326;419;373;424	ENSP00000354943:K419R;ENSP00000340543:K326R;ENSP00000288955:K419R;ENSP00000348333:K373R;ENSP00000236255:K424R	ENSP00000236255:K424R	K	+	2	0	GRHL3	24541820	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.549000	0.60726	2.090000	0.63153	0.533000	0.62120	AAG		0.642	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180		25	59	0	0	0	1	0	25	59					G	24669233	A	G	24669233	3	3	440	1	0	0	0	0	1	0	0	0	6765	72	3	3	1330	3	GRHL3	1	24669233	Missense_Mutation	SNP	A	TCGA-FY-A3YR-01A-11D-A22Z-08		24669233	224581388	1	8994											
ABCA4	24	broad.mit.edu	37	chr1	94466628	94466628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgttccacagcatgcggcGtgcctgggggtccatccctg	14	14	0	0	rs61750648		TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr1:94466628G>A	ENST00000370225.3	-	46	6402	c.6316C>T	c.(6316-6318)Cgc>Tgc	p.R2106C	ABCA4_ENST00000465352.1_5'Flank|ABCA4_ENST00000535881.1_Missense_Mutation_p.R225C|ABCA4_ENST00000536513.1_Missense_Mutation_p.R376C	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2106	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.		R -> C (in STGD1 and FFM; reduced ATP- binding capacity). {ECO:0000269|PubMed:11379881}.		phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AGCATGCGGCGTGCCTGGGGG	0.627													G|||	1	0.000199681	0	0	5008	,	,		18899	0		0	False		,,,				2504	0.001					ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147	GRCh37	CM970022	ABCA4	M	rs61750648	c.(6316-6318)Cgc>Tgc		ATP-binding cassette, sub-family A (ABC1), member 4		G	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	84	77	80	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	6316	5.1	1.0	1	dbSNP_129	80	0,8600		0,0,4300	no	missense	ABCA4	NM_000350.2	180	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	2106/2274	94466628	2,13004	2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94466628G>A	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.6316C>T	1.37:g.94466628G>A	ENSP00000359245:p.Arg2106Cys					ABCA4_ENST00000535881.1_Missense_Mutation_p.R225C|ABCA4_ENST00000536513.1_Missense_Mutation_p.R376C	p.R2106C	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	46	6402	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	2106		R -> C (in STGD1 and FFM; reduced ATP- binding capacity).	ABC transporter 2.		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.6316C>T	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369596	0.82463	4.54E-4	0.0	ENSG00000198691	ENST00000546054;ENST00000370225;ENST00000536513;ENST00000535881	D;D;D	0.97378	-4.36;-4.36;-4.36	6.08	5.14	0.70334	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.053526	0.85682	D	0.000000	D	0.98858	0.9614	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99301	1.0901	10	0.87932	D	0	.	16.8632	0.86023	0.0:0.0:0.8712:0.1288	rs61750648	2106	P78363	ABCA4_HUMAN	C	898;2106;376;225	ENSP00000359245:R2106C;ENSP00000439707:R376C;ENSP00000443203:R225C	ENSP00000359245:R2106C	R	-	1	0	ABCA4	94239216	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	2.866000	0.48420	2.894000	0.99253	0.655000	0.94253	CGC		0.627	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		4	43	0	0	0	1	0	4	43					A	94466628	G	A	94466628	3	1	440	1	0	0	0	0	1	0	0	0	34	1145	40	1	525	1	ABCA4	1	94466628	Missense_Mutation	SNP	G	TCGA-FY-A3YR-01A-11D-A22Z-08	69797395	94466628	154783993	2	8995											
FLG	2312	broad.mit.edu	37	chr1	152284626	152284626	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgagaggaagcttcatggtgAcgtgaccctgagtgcctgga	15	8	1	4			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr1:152284626A>T	ENST00000368799.1	-	3	2771	c.2736T>A	c.(2734-2736)cgT>cgA	p.R912R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	912	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTCATGGTGACGTGACCCTG	0.572									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(2734-2736)cgT>cgA		filaggrin							381	360	367					1																	152284626		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152284626A>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2736T>A	1.37:g.152284626A>T						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.R912R	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2771	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		912			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.2736T>A	CCDS30860.1																																																																																				0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		12	362	0	0	0	1	0	12	362					T	152284626	A	T	152284626	2	4	440	1	0	0	0	0	0	0	0	1	5922	262	10	5		5	FLG	1	152284626	Silent	SNP	A	TCGA-FY-A3YR-01A-11D-A22Z-08	57817998	152284626	96965995	3	8996											
RC3H1	149041	broad.mit.edu	37	chr1	173934007	173934007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggatccaggagcactactgCtcagatgatctatttttcct	9	10	2	2			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr1:173934007C>T	ENST00000367696.2	-	10	1937	c.1586G>A	c.(1585-1587)aGc>aAc	p.S529N	RC3H1_ENST00000367694.2_Missense_Mutation_p.S529N|RC3H1_ENST00000258349.4_Missense_Mutation_p.S529N			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	529					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						AGCACTACTGCTCAGATGATC	0.398																																						ENST00000367696.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						c.(1585-1587)aGc>aAc		ring finger and CCCH-type domains 1							123	114	117					1																	173934007		2203	4300	6503	SO:0001583	missense	149041				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:173934007C>T	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	29434	protein-coding gene	gene with protein product	"KIAA2025 protein"	609424	"ring finger and CCCH-type zinc finger domains 1"			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.1586G>A	1.37:g.173934007C>T	ENSP00000356669:p.Ser529Asn					RC3H1_ENST00000258349.4_Missense_Mutation_p.S529N|RC3H1_ENST00000367694.2_Missense_Mutation_p.S529N	p.S529N			Q5TC82	RC3H1_HUMAN			10	1937	-			529					B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	c.1586G>A	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	C	30	5.055431	0.93793	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.50813	0.78;0.78;0.73	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.66577	0.2803	L	0.53249	1.67	0.80722	D	1	D;D;D;D	0.67145	0.993;0.993;0.996;0.993	D;D;D;D	0.75484	0.968;0.968;0.986;0.968	T	0.64045	-0.6499	10	0.49607	T	0.09	-11.0912	20.0435	0.97601	0.0:1.0:0.0:0.0	.	529;529;529;529	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	N	529	ENSP00000356669:S529N;ENSP00000258349:S529N;ENSP00000356667:S529N	ENSP00000258349:S529N	S	-	2	0	RC3H1	172200630	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.940000	0.75917	2.731000	0.93534	0.650000	0.86243	AGC		0.398	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		26	39	0	0	0	1	0	26	39					T	173934007	C	T	173934007	3	4	440	1	0	0	0	0	1	0	0	0	13166	797	28	2	1859	2	RC3H1	1	173934007	Missense_Mutation	SNP	C	TCGA-FY-A3YR-01A-11D-A22Z-08	21649381	173934007	75316614	4	8997											
DEGS1	8560	broad.mit.edu	37	chr1	224377965	224377965	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atttacttaccttcaatgtgGgttatcataatgaacatcat	5	7	3	1			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr1:224377965G>T	ENST00000323699.4	+	2	935	c.769G>T	c.(769-771)Ggt>Tgt	p.G257C	DEGS1_ENST00000391877.3_Missense_Mutation_p.G257C	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN	delta(4)-desaturase, sphingolipid 1	257					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		CTTCAATGTGGGTTATCATAA	0.333																																						ENST00000323699.4																			0				breast(1)|kidney(3)|large_intestine(2)|lung(4)	10						c.(769-771)Ggt>Tgt		delta(4)-desaturase, sphingolipid 1							63	63	63					1																	224377965		2203	4300	6503	SO:0001583	missense	8560				sphingolipid metabolic process|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity	g.chr1:224377965G>T	AF002668	CCDS1540.1	1q42.11	2013-09-02	2011-12-09	2004-12-14	ENSG00000143753	ENSG00000143753		"Fatty acid desaturases"	13709	protein-coding gene	gene with protein product	"sphingolipid delta(4)-desaturase 1", "dihydroceramide desaturase 1"	615843	"degenerative spermatocyte homolog 1, lipid desaturase (Drosophila)"			9188692, 20105137	Standard	NM_003676		Approved	MLD, Des-1, DES1, FADS7, DEGS-1	uc001hoj.3	O15121	OTTHUMG00000037496	ENST00000323699.4:c.769G>T	1.37:g.224377965G>T	ENSP00000316476:p.Gly257Cys					DEGS1_ENST00000391877.3_Missense_Mutation_p.G257C	p.G257C	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN		GBM - Glioblastoma multiforme(131;0.00643)	2	935	+	Breast(184;0.193)		257						Missense_Mutation	SNP	ENST00000323699.4	37	c.769G>T	CCDS1540.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868985	0.72065	.	.	ENSG00000143753	ENST00000415210;ENST00000323699;ENST00000391877	T;T;T	0.21031	2.03;2.03;2.03	5.8	5.8	0.92144	Fatty acid desaturase, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.65312	0.2679	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	0.77970	-0.2387	10	0.87932	D	0	.	20.0522	0.97631	0.0:0.0:1.0:0.0	.	257;236	O15121;E7EMA0	DEGS1_HUMAN;.	C	236;257;257	ENSP00000400545:G236C;ENSP00000316476:G257C;ENSP00000375749:G257C	ENSP00000316476:G257C	G	+	1	0	DEGS1	222444588	1.000000	0.71417	0.994000	0.49952	0.529000	0.34654	9.869000	0.99810	2.747000	0.94245	0.549000	0.68633	GGT		0.333	DEGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091285.2			3	34	1	0	0.150653	1	0.150653	3	34					T	224377965	G	T	224377965	3	4	440	1	0	0	0	0	1	0	0	0	4422	1232	43	4	775	4	DEGS1	1	224377965	Missense_Mutation	SNP	G	TCGA-FY-A3YR-01A-11D-A22Z-08	50443958	224377965	24872656	5	8998											
PGBD5	79605	broad.mit.edu	37	chr1	230492720	230492720	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctggaccttgtagagcccgtGcgtggtctggctggagcgga	17	10	1	1			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr1:230492720G>C	ENST00000525115.1	-	2	495	c.472C>G	c.(472-474)Cac>Gac	p.H158D	PGBD5_ENST00000391860.1_Missense_Mutation_p.H112D|PGBD5_ENST00000321327.2_Missense_Mutation_p.H257D			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	158						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		TAGAGCCCGTGCGTGGTCTGG	0.627																																						ENST00000321327.2																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33						c.(769-771)Cac>Gac		piggyBac transposable element derived 5							81	74	76					1																	230492720		2203	4300	6503	SO:0001583	missense	79605					integral to membrane		g.chr1:230492720G>C	AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.472C>G	1.37:g.230492720G>C	ENSP00000431404:p.His158Asp					PGBD5_ENST00000391860.1_Missense_Mutation_p.H112D|PGBD5_ENST00000525115.1_Missense_Mutation_p.H158D	p.H257D			Q8N414	PGBD5_HUMAN		GBM - Glioblastoma multiforme(131;0.201)	4	768	-	Breast(184;0.0397)	Prostate(94;0.167)	158					A0PJF3|B9EK58|Q5SR37|Q6PJN2	Missense_Mutation	SNP	ENST00000525115.1	37	c.769C>G		.	.	.	.	.	.	.	.	.	.	G	12.92	2.081443	0.36758	.	.	ENSG00000177614	ENST00000391860;ENST00000321327;ENST00000525115	T;T;T	0.10668	2.85;2.85;2.85	6.03	6.03	0.97812	.	0.047074	0.85682	D	0.000000	T	0.05686	0.0149	N	0.03608	-0.345	0.54753	D	0.999989	B	0.32010	0.351	B	0.31946	0.138	T	0.23904	-1.0175	10	0.02654	T	1	-28.5082	20.5568	0.99304	0.0:0.0:1.0:0.0	.	158	Q8N414	PGBD5_HUMAN	D	112;257;158	ENSP00000375733:H112D;ENSP00000322530:H257D;ENSP00000431404:H158D	ENSP00000322530:H257D	H	-	1	0	PGBD5	228559343	1.000000	0.71417	0.723000	0.30687	0.732000	0.41865	9.848000	0.99507	2.861000	0.98227	0.655000	0.94253	CAC		0.627	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382617.1	NM_024554		15	24	0	0	0	1	0	15	24					C	230492720	G	C	230492720	3	2	440	1	0	0	0	0	1	0	0	0	11784	1319	46	4	919	4	PGBD5	1	230492720	Missense_Mutation	SNP	G	TCGA-FY-A3YR-01A-11D-A22Z-08	6114755	230492720	18757901	6	8999											
QTRTD1	79691	broad.mit.edu	37	chr3	113804620	113804620	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctgctggtgaccaatgagCtgctggccggagtcctgctt	13	11	1	2			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr3:113804620C>T	ENST00000493014.1	+	6	867	c.799C>T	c.(799-801)Ctg>Ttg	p.L267L	QTRTD1_ENST00000479882.1_Silent_p.L250L|QTRTD1_ENST00000485050.1_Silent_p.L385L|QTRTD1_ENST00000281273.4_Silent_p.L373L	NM_001256836.1	NP_001243765.1			queuine tRNA-ribosyltransferase domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						GACCAATGAGCTGCTGGCCGG	0.483																																						ENST00000281273.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						c.(1117-1119)Ctg>Ttg		queuine tRNA-ribosyltransferase domain containing 1							204	172	183					3																	113804620		2203	4300	6503	SO:0001819	synonymous_variant	79691				queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity	g.chr3:113804620C>T	AK023022	CCDS33828.1, CCDS58846.1, CCDS58845.1, CCDS58844.1	3q13.31	2010-11-16			ENSG00000151576	ENSG00000151576			25771	protein-coding gene	gene with protein product						12477932	Standard	NM_024638		Approved	FLJ12960	uc003eaz.4	Q9H974	OTTHUMG00000159336	ENST00000493014.1:c.799C>T	3.37:g.113804620C>T						QTRTD1_ENST00000479882.1_Silent_p.L250L|QTRTD1_ENST00000485050.1_Silent_p.L385L|QTRTD1_ENST00000493014.1_Silent_p.L267L	p.L373L	NM_024638.3	NP_078914.1	Q9H974	QTRD1_HUMAN			10	1374	+			373						Silent	SNP	ENST00000493014.1	37	c.1117C>T	CCDS58845.1																																																																																				0.483	QTRTD1-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000354711.1	NM_024638		5	82	0	0	0	1	0	5	82					T	113804620	C	T	113804620	2	4	440	1	0	0	0	0	0	0	0	1	12886	796	28	2		2	QTRTD1	3	113804620	Silent	SNP	C	TCGA-FY-A3YR-01A-11D-A22Z-08		113804620	84217810	7	9000											
COL6A6	131873	broad.mit.edu	37	chr3	130282174	130282174	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtccctgcagataggaaaGgctcttcaggaggctcacag	14	10	3	1			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr3:130282174G>T	ENST00000358511.6	+	2	358	c.327G>T	c.(325-327)aaG>aaT	p.K109N	COL6A6_ENST00000453409.2_Missense_Mutation_p.K109N	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	109	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 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						AGATAGGAAAGGCTCTTCAGG	0.507																																						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.(325-327)aaG>aaT		collagen, type VI, alpha 6							38	37	38					3																	130282174		1856	4084	5940	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130282174G>T	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.327G>T	3.37:g.130282174G>T	ENSP00000351310:p.Lys109Asn					COL6A6_ENST00000453409.2_Missense_Mutation_p.K109N	p.K109N	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			2	358	+			109			Nonhelical region.|VWFA 1.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.327G>T	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	0.777	-0.763834	0.02996	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.84370	-1.84;-1.84	5.21	-10.4	0.00318	von Willebrand factor, type A (3);	1.100950	0.06830	N	0.793704	T	0.60064	0.2240	N	0.10874	0.06	0.20489	N	0.999892	B	0.02656	0.0	B	0.04013	0.001	T	0.49163	-0.8968	10	0.12103	T	0.63	.	4.0301	0.09705	0.1559:0.0905:0.2435:0.5101	.	109	A6NMZ7	CO6A6_HUMAN	N	109	ENSP00000351310:K109N;ENSP00000399236:K109N	ENSP00000351310:K109N	K	+	3	2	COL6A6	131764864	0.000000	0.05858	0.000000	0.03702	0.334000	0.28698	-1.635000	0.02018	-2.338000	0.00627	-1.083000	0.02208	AAG		0.507	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		8	14	1	0	1.12685e-05	1	1.22484e-05	8	14					T	130282174	G	T	130282174	3	4	440	1	0	0	0	0	1	0	0	0	3703	991	35	4	333	4	COL6A6	3	130282174	Missense_Mutation	SNP	G	TCGA-FY-A3YR-01A-11D-A22Z-08	16477554	130282174	67740256	8	9001											
PDZD2	23037	broad.mit.edu	37	chr5	32074632	32074635	+	Frame_Shift_Del	DEL	ACAG	ACAG	-													gaggccaagcccagtggctcAcagacagtgaacctgactgg							TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr5:32074632_32074635delACAG	ENST00000438447.1	+	18	3808_3811	c.3420_3423delACAG	c.(3418-3423)tcacagfs	p.SQ1140fs	PDZD2_ENST00000282493.3_Frame_Shift_Del_p.SQ1140fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	1140					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCAGTGGCTCACAGACAGTGAACC	0.593																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(3418-3423)tcfs		PDZ domain containing 2																																				SO:0001589	frameshift_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32074632_32074635delACAG	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.3420_3423delACAG	5.37:g.32074636_32074639delACAG	ENSP00000402033:p.Ser1140fs					PDZD2_ENST00000282493.3_Frame_Shift_Del_p.SQ1140fs	p.SQ1140fs			O15018	PDZD2_HUMAN			18	3808_3811	+			1140					Q9BXD4	Frame_Shift_Del	DEL	ENST00000438447.1	37	c.3420_3423delACAG	CCDS34137.1																																																																																				0.593	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			13	23						13	23	---	---	---	---	-	32074635	ACAG	-	32074632	7	5	440	1	0	1	0	1	0	0	0	0	11701	146	6	0	3486	0	PDZD2	5	32074632	Frame_Shift_Del	DEL	ACAG	TCGA-FY-A3YR-01A-11D-A22Z-08		32074632	148840628	9	9002											
PRLR	5618	broad.mit.edu	37	chr5	35065551	35065551	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acataatccaagggtttagcGgagccaaagggggttttctc	12	8	1	0	rs368647716		TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr5:35065551G>A	ENST00000382002.5	-	10	1935	c.1509C>T	c.(1507-1509)tcC>tcT	p.S503S	PRLR_ENST00000513753.1_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000511486.1_Silent_p.S402S|PRLR_ENST00000342362.5_Silent_p.S402S|PRLR_ENST00000509934.1_5'Flank	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	503					activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)	p.S503S(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	AGGGTTTAGCGGAGCCAAAGG	0.517																																						ENST00000382002.5																			1	Substitution - coding silent(1)	p.S503S(1)	upper_aerodigestive_tract(1)	central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1507-1509)tcC>tcT		prolactin receptor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	G	,,,,,	0,4406		0,0,2203	87	94	92		1509,1206,,,,	3.4	0.0	5		92	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,intron,intron,intron,intron	PRLR	NM_000949.5,NM_001204314.1,NM_001204315.1,NM_001204316.1,NM_001204317.1,NM_001204318.1	,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,	503/623,402/522,,,,	35065551	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5618				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	g.chr5:35065551G>A		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.1509C>T	5.37:g.35065551G>A						PRLR_ENST00000342362.5_Silent_p.S402S|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000511486.1_Silent_p.S402S|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000231423.3_Intron	p.S503S	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		10	1935	-	all_lung(31;3.83e-05)		503					B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Silent	SNP	ENST00000382002.5	37	c.1509C>T	CCDS3909.1																																																																																				0.517	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			4	68	0	0	0	1	0	4	68					A	35065551	G	A	35065551	2	1	440	1	0	0	0	0	0	0	0	1	12531	1103	39	1		1	PRLR	5	35065551	Silent	SNP	G	TCGA-FY-A3YR-01A-11D-A22Z-08	2990919	35065551	145849709	10	9003											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		22	24	0	0	0	1	0	22	24					T	140453136	A	T	140453136	3	4	440	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FY-A3YR-01A-11D-A22Z-08		140453136	18685527	11	9004											
ARFIP2	23647	broad.mit.edu	37	chr11	6500429	6500429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttttctccagcaatgccccGagccacctcatctccagggc	7	18	3	0			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr11:6500429G>A	ENST00000254584.2	-	4	339	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	TIMM10B_ENST00000254616.6_5'Flank|ARFIP2_ENST00000396777.3_Missense_Mutation_p.R86W|TIMM10B_ENST00000472836.1_5'Flank|ARFIP2_ENST00000423813.2_Missense_Mutation_p.R48W|ARFIP2_ENST00000445086.2_Intron|ARFIP2_ENST00000525235.1_Missense_Mutation_p.R86W|TIMM10B_ENST00000530751.1_5'Flank	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	86					actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|lamellipodium assembly (GO:0030032)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|Rac GTPase binding (GO:0048365)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCAATGCCCCGAGCCACCTCA	0.512																																					Melanoma(119;796 1674 9049 20480 24794)	ENST00000254584.2																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15						c.(256-258)Cgg>Tgg		ADP-ribosylation factor interacting protein 2							84	79	81					11																	6500429		2201	4296	6497	SO:0001583	missense	23647				actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding	g.chr11:6500429G>A	BC000392	CCDS7765.1, CCDS55739.1, CCDS55740.1, CCDS73250.1	11p15	2008-08-01	2008-08-01		ENSG00000132254	ENSG00000132254			17160	protein-coding gene	gene with protein product	"arfaptin 2"	601638				8670882, 9038142	Standard	NM_012402		Approved	POR1	uc010ran.2	P53365	OTTHUMG00000133406	ENST00000254584.2:c.256C>T	11.37:g.6500429G>A	ENSP00000254584:p.Arg86Trp					ARFIP2_ENST00000423813.2_Missense_Mutation_p.R48W|ARFIP2_ENST00000396777.3_Missense_Mutation_p.R86W|ARFIP2_ENST00000525235.1_Missense_Mutation_p.R86W|ARFIP2_ENST00000445086.2_Intron	p.R86W	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	4	339	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	86					B4DX86|B4E306|D3DQT5	Missense_Mutation	SNP	ENST00000254584.2	37	c.256C>T	CCDS7765.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031512	0.75504	.	.	ENSG00000132254	ENST00000254584;ENST00000396777;ENST00000423813;ENST00000525235	T;T;T	0.78924	-1.19;-1.19;-1.22	5.6	5.6	0.85130	.	0.053180	0.64402	D	0.000001	D	0.83454	0.5258	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.66847	0.947;0.893	D	0.84106	0.0398	10	0.62326	D	0.03	.	12.8904	0.58068	0.0:0.0:0.7206:0.2794	.	119;86	B4DUZ3;P53365	.;ARFP2_HUMAN	W	86;86;48;86	ENSP00000254584:R86W;ENSP00000379998:R86W;ENSP00000398375:R48W	ENSP00000254584:R86W	R	-	1	2	ARFIP2	6457005	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.108000	0.50337	2.659000	0.90383	0.484000	0.47621	CGG		0.512	ARFIP2-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387044.1	NM_012402		21	25	0	0	0	1	0	21	25					A	6500429	G	A	6500429	3	1	440	1	0	0	0	0	1	0	0	0	855	1057	37	1	789	1	ARFIP2	11	6500429	Missense_Mutation	SNP	G	TCGA-FY-A3YR-01A-11D-A22Z-08		6500429	128506087	12	9005											
CPT1A	1374	broad.mit.edu	37	chr11	68542856	68542856	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtcgcctttgcagtgcccAtcctccgcatagcccagctg	9	16	0	0			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr11:68542856A>C	ENST00000265641.5	-	13	1657	c.1503T>G	c.(1501-1503)gaT>gaG	p.D501E	CPT1A_ENST00000537756.2_5'Flank|CPT1A_ENST00000376618.2_Missense_Mutation_p.D501E|CPT1A_ENST00000539743.1_Missense_Mutation_p.D501E|CPT1A_ENST00000540367.1_Missense_Mutation_p.D501E	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	501					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	TGCAGTGCCCATCCTCCGCAT	0.463																																						ENST00000265641.5																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1501-1503)gaT>gaG		carnitine palmitoyltransferase 1A (liver)	L-Carnitine(DB00583)|Perhexiline(DB01074)						153	134	141					11																	68542856		2200	4294	6494	SO:0001583	missense	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68542856A>C	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.1503T>G	11.37:g.68542856A>C	ENSP00000265641:p.Asp501Glu					CPT1A_ENST00000376618.2_Missense_Mutation_p.D501E|CPT1A_ENST00000540367.1_Missense_Mutation_p.D501E|CPT1A_ENST00000539743.1_Missense_Mutation_p.D501E	p.D501E	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		13	1657	-	Esophageal squamous(3;3.28e-14)		501					Q8TCU0|Q9BWK0	Missense_Mutation	SNP	ENST00000265641.5	37	c.1503T>G	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	A	9.133	1.011830	0.19277	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52	5.12	-6.81	0.01704	.	0.158415	0.53938	D	0.000041	T	0.76709	0.4025	N	0.17564	0.495	0.26746	N	0.970304	B;B	0.19073	0.018;0.033	B;B	0.25405	0.06;0.036	T	0.54801	-0.8239	10	0.18710	T	0.47	.	16.8677	0.86033	0.2439:0.0:0.7561:0.0	.	501;501	P50416;P50416-2	CPT1A_HUMAN;.	E	501	ENSP00000439084:D501E;ENSP00000365803:D501E;ENSP00000265641:D501E;ENSP00000446108:D501E	ENSP00000265641:D501E	D	-	3	2	CPT1A	68299432	0.000000	0.05858	0.466000	0.27168	0.408000	0.30992	-3.456000	0.00464	-1.298000	0.02348	0.391000	0.25812	GAT		0.463	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		27	36	0	0	0	1	0	27	36					C	68542856	A	C	68542856	3	2	440	1	0	0	0	0	1	0	0	0	3831	214	8	5	886	5	CPT1A	11	68542856	Missense_Mutation	SNP	A	TCGA-FY-A3YR-01A-11D-A22Z-08	62042427	68542856	66463660	13	9006											
STT3A	3703	broad.mit.edu	37	chr11	125472219	125472219	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tactttaattatcggactacCaggttcctggctgaggaggg	12	8	0	1			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr11:125472219C>G	ENST00000529196.1	+	5	377	c.171C>G	c.(169-171)acC>acG	p.T57T	STT3A_ENST00000531491.1_5'UTR|STT3A_ENST00000392708.4_Silent_p.T57T			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	57					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		ATCGGACTACCAGGTTCCTGG	0.403																																						ENST00000392708.4																			0				NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33						c.(169-171)acC>acG		STT3A, subunit of the oligosaccharyltransferase complex (catalytic)							83	85	84					11																	125472219		2201	4299	6500	SO:0001819	synonymous_variant	3703				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity	g.chr11:125472219C>G	BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"dolichyl-diphosphooligosaccharide protein glycotransferase"	601134	"integral membrane protein 1", "STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)", "STT3A, cataylic subunit of the oligosaccharyltransferase complex"	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.171C>G	11.37:g.125472219C>G						STT3A_ENST00000529196.1_Silent_p.T57T|STT3A_ENST00000531491.1_5'UTR	p.T57T	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)	4	330	+	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	57					B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Silent	SNP	ENST00000529196.1	37	c.171C>G	CCDS8458.1																																																																																				0.403	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386691.1	NM_152713		12	22	0	0	0	1	0	12	22					G	125472219	C	G	125472219	2	3	440	1	0	0	0	0	0	0	0	1	15332	581	21	4		4	STT3A	11	125472219	Silent	SNP	C	TCGA-FY-A3YR-01A-11D-A22Z-08	56929363	125472219	9534297	14	9007											
TRHDE	29953	broad.mit.edu	37	chr12	72962380	72962380	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattccattaactattgtggTaggaaatagaagccatgtgt	10	5	0	1			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr12:72962380T>C	ENST00000261180.4	+	10	2036	c.1940T>C	c.(1939-1941)gTa>gCa	p.V647A	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	647					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACTATTGTGGTAGGAAATAGA	0.328																																						ENST00000261180.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(1939-1941)gTa>gCa		thyrotropin-releasing hormone degrading enzyme							113	112	113					12																	72962380		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72962380T>C	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1940T>C	12.37:g.72962380T>C	ENSP00000261180:p.Val647Ala					TRHDE_ENST00000549138.1_3'UTR	p.V647A	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			10	2036	+			647					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.1940T>C	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	T	12.87	2.068970	0.36470	.	.	ENSG00000072657	ENST00000261180	T	0.28666	1.6	5.24	5.24	0.73138	.	0.439029	0.23840	N	0.044051	T	0.31167	0.0788	L	0.49513	1.565	0.58432	D	0.999992	B	0.20164	0.042	B	0.14023	0.01	T	0.06445	-1.0826	10	0.52906	T	0.07	.	15.1357	0.72562	0.0:0.0:0.0:1.0	.	647	Q9UKU6	TRHDE_HUMAN	A	647	ENSP00000261180:V647A	ENSP00000261180:V647A	V	+	2	0	TRHDE	71248647	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.886000	0.75611	1.964000	0.57103	0.455000	0.32223	GTA		0.328	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		12	21	0	0	0	1	0	12	21					C	72962380	T	C	72962380	3	2	440	1	0	0	0	0	1	0	0	0	16476	1638	57	3	1978	3	TRHDE	12	72962380	Missense_Mutation	SNP	T	TCGA-FY-A3YR-01A-11D-A22Z-08		72962380	60889515	15	9008											
EP400	57634	broad.mit.edu	37	chr12	132547135	132547136	+	In_Frame_Ins	INS	-	-	CAG													agcagcagcagcagcagcagINScaacagcagcagcagcaaca							TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr12:132547135_132547136insCAG	ENST00000333577.4	+	48	8440_8441	c.8331_8332insCAG	c.(8332-8334)caa>CAGcaa	p.2778_2778Q>QQ	EP400_ENST00000389562.2_In_Frame_Ins_p.2741_2741Q>QQ|EP400_ENST00000332482.4_In_Frame_Ins_p.2705_2705Q>QQ|EP400_ENST00000330386.6_In_Frame_Ins_p.2661_2661Q>QQ|EP400_ENST00000389561.2_In_Frame_Ins_p.2742_2742Q>QQ			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	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)			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)		agcagcagcagcaacagcagca	0.589																																						ENST00000333577.4																			0				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.(8329-8334)caaaca>caCAGaaca		E1A binding protein p400																																				SO:0001652	inframe_insertion	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.chr12:132547135_132547136insCAG	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.8329_8331dupCAG	12.37:g.132547133_132547135dupCAG	ENSP00000333602:p.Gln2784dup					EP400_ENST00000330386.6_In_Frame_Ins_p.2660_2660Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2741_2741Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2740_2740Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2704_2704Q>HR	p.2777_2777Q>HR			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8440_8441	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2777			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	In_Frame_Ins	INS	ENST00000333577.4	37	c.8331_8332insCAG																																																																																					0.589	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		14	34						14	34	---	---	---	---	CAG	132547136	-	CAG	132547135	7	5	440	1	0	1	1	0	0	0	0	0	5149	962	34	0	8402	0	EP400	12	132547135	In_Frame_Ins	INS	-	TCGA-FY-A3YR-01A-11D-A22Z-08	59584755	132547135	1304760	16	9009											
CENPT	80152	broad.mit.edu	37	chr16	67862435	67862435	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttgcggccagcatgagcagCaaatacctccagatcatcac	8	14	2	2			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr16:67862435C>A	ENST00000562787.1	-	15	2052	c.1504G>T	c.(1504-1506)Gct>Tct	p.A502S	CENPT_ENST00000219172.3_Missense_Mutation_p.A502S|CENPT_ENST00000562947.1_5'Flank|CENPT_ENST00000440851.2_Missense_Mutation_p.A502S|CENPT_ENST00000564817.1_Missense_Mutation_p.A447S	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	502					chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		GCATGAGCAGCAAATACCTCC	0.552																																						ENST00000562787.1																			0				NS(1)|breast(2)|lung(6)|urinary_tract(1)	10						c.(1504-1506)Gct>Tct		centromere protein T							126	134	131					16																	67862435		2042	4196	6238	SO:0001583	missense	80152				mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding	g.chr16:67862435C>A	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"chromosome 16 open reading frame 56"	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.1504G>T	16.37:g.67862435C>A	ENSP00000457810:p.Ala502Ser					CENPT_ENST00000440851.2_Missense_Mutation_p.A502S|CENPT_ENST00000219172.3_Missense_Mutation_p.A502S|CENPT_ENST00000564817.1_Missense_Mutation_p.A447S	p.A502S	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)	15	2052	-		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	502					Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	ENST00000562787.1	37	c.1504G>T	CCDS42182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.080860|4.080860	0.76528|0.76528	.|.	.|.	ENSG00000102901|ENSG00000102901	ENST00000440851;ENST00000219172|ENST00000436104	T;T|.	0.60424|.	0.19;0.19|.	5.67|5.67	4.71|4.71	0.59529|0.59529	Histone-fold (2);|.	0.213000|.	0.38548|.	N|.	0.001651|.	T|T	0.70570|0.70570	0.3239|0.3239	M|M	0.62016|0.62016	1.91|1.91	0.80722|0.80722	D|D	1|1	P;D|D	0.69078|0.89917	0.67;0.997|1.0	B;P|D	0.62740|0.72625	0.413;0.906|0.978	T|T	0.72513|0.72513	-0.4270|-0.4270	10|8	0.38643|0.87932	T|D	0.18|0	-8.4161|-8.4161	11.1798|11.1798	0.48620|0.48620	0.0:0.9146:0.0:0.0854|0.0:0.9146:0.0:0.0854	.|.	502;502|253	Q96BT3;B3KPB2|F5H5A6	CENPT_HUMAN;.|.	S|F	502|253	ENSP00000400140:A502S;ENSP00000219172:A502S|.	ENSP00000219172:A502S|ENSP00000404857:L253F	A|L	-|-	1|3	0|2	CENPT|CENPT	66419936|66419936	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.817000|0.817000	0.46193|0.46193	0.786000|0.786000	0.26844|0.26844	2.666000|2.666000	0.90696|0.90696	0.561000|0.561000	0.74099|0.74099	GCT|TTG		0.552	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082		6	144	1	0	2.7689e-08	1	3.14647e-08	6	144					A	67862435	C	A	67862435	3	1	440	1	0	0	0	0	1	0	0	0	3242	710	25	4	189	4	CENPT	16	67862435	Missense_Mutation	SNP	C	TCGA-FY-A3YR-01A-11D-A22Z-08		67862435	22492318	17	9010											
SERPINB8	5271	broad.mit.edu	37	chr18	61645663	61645663	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatctcctctgccctggccAtggtcttcatgggggcaaag	12	13	4	0			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr18:61645663A>G	ENST00000397985.2	+	2	377	c.121A>G	c.(121-123)Atg>Gtg	p.M41V	HMSD_ENST00000481726.1_3'UTR|SERPINB8_ENST00000542677.1_Intron|SERPINB8_ENST00000397988.3_Missense_Mutation_p.M41V|SERPINB8_ENST00000353706.2_Missense_Mutation_p.M41V	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	41					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				TGCCCTGGCCATGGTCTTCAT	0.488																																						ENST00000397985.2																			0				breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17						c.(121-123)Atg>Gtg		serpin peptidase inhibitor, clade B (ovalbumin), member 8							100	88	92					18																	61645663		2203	4300	6503	SO:0001583	missense	5271				regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61645663A>G	L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"Serine (or cysteine) peptidase inhibitors"	8952	protein-coding gene	gene with protein product	"cytoplasmic antiproteinase 2"	601697	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.121A>G	18.37:g.61645663A>G	ENSP00000381072:p.Met41Val					HMSD_ENST00000481726.1_3'UTR|SERPINB8_ENST00000542677.1_Intron|SERPINB8_ENST00000353706.2_Missense_Mutation_p.M41V|SERPINB8_ENST00000397988.3_Missense_Mutation_p.M41V	p.M41V	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN			2	377	+		Esophageal squamous(42;0.129)	41					B4DTW2|Q7Z2V6|Q8N178	Missense_Mutation	SNP	ENST00000397985.2	37	c.121A>G	CCDS11991.1	.	.	.	.	.	.	.	.	.	.	A	17.38	3.374128	0.61735	.	.	ENSG00000166401	ENST00000397985;ENST00000353706;ENST00000397988;ENST00000448851;ENST00000441827	D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03	5.14	5.14	0.70334	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.92912	0.7745	M	0.91872	3.25	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.72338	0.977;0.977	D	0.93795	0.7096	10	0.87932	D	0	.	10.4639	0.44596	0.8371:0.1629:0.0:0.0	.	41;41	P50452;Q8N178	SPB8_HUMAN;.	V	41	ENSP00000381072:M41V;ENSP00000331368:M41V;ENSP00000381075:M41V;ENSP00000414580:M41V;ENSP00000393456:M41V	ENSP00000331368:M41V	M	+	1	0	SERPINB8	59796643	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	4.588000	0.60999	2.164000	0.68074	0.533000	0.62120	ATG		0.488	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134014.1	NM_001031848		4	46	0	0	0	1	0	4	46					G	61645663	A	G	61645663	3	3	440	1	0	0	0	0	1	0	0	0	14107	217	8	3	123	3	SERPINB8	18	61645663	Missense_Mutation	SNP	A	TCGA-FY-A3YR-01A-11D-A22Z-08		61645663	16431585	18	9011											
KLF2	10365	broad.mit.edu	37	chr19	16436140	16436142	+	In_Frame_Del	DEL	GCC	GCC	-													ggcgccgaggccgccccggaGccgccgccgccgcccccgcc							TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr19:16436140_16436142delGCC	ENST00000248071.5	+	2	296_298	c.189_191delGCC	c.(187-192)gagccg>gag	p.P71del	KLF2_ENST00000592003.1_Intron|CTD-2562J15.6_ENST00000588799.1_RNA	NM_016270.2	NP_057354.1	Q9Y5W3	KLF2_HUMAN	Kruppel-like factor 2	71	Poly-Pro.				cell morphogenesis (GO:0000902)|cellular response to cycloheximide (GO:0071409)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to peptide (GO:1901653)|cellular response to tumor necrosis factor (GO:0071356)|erythrocyte maturation (GO:0043249)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)|Type I pneumocyte differentiation (GO:0060509)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(3)|lung(1)|skin(1)	5						CCGCCCCGGAgccgccgccgccg	0.749																																						ENST00000248071.5																			0				haematopoietic_and_lymphoid_tissue(3)|lung(1)|skin(1)	5						c.(187-192)gag>ga		Kruppel-like factor 2				7,569		3,1,284						1.3	0.0			2	24,1840		6,12,914	no	coding	KLF2	NM_016270.2		9,13,1198	A1A1,A1R,RR		1.2876,1.2153,1.2705				31,2409				SO:0001651	inframe_deletion	10365				positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:16436140_16436142delGCC	AF123344	CCDS12343.1	19p13.11	2013-10-15	2013-10-15		ENSG00000127528	ENSG00000127528		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6347	protein-coding gene	gene with protein product		602016	"Kruppel-like factor 2 (lung)"			10217429, 10458913	Standard	NM_016270		Approved	LKLF	uc002ndw.3	Q9Y5W3	OTTHUMG00000182330	ENST00000248071.5:c.189_191delGCC	19.37:g.16436149_16436151delGCC	ENSP00000248071:p.Pro71del					KLF2_ENST00000592003.1_Intron	p.EP63del	NM_016270.2	NP_057354.1	Q9Y5W3	KLF2_HUMAN			2	296_298	+			63			Poly-Pro.		Q6IPC4|Q9UJS5|Q9UKR6	In_Frame_Del	DEL	ENST00000248071.5	37	c.189_191delGCC	CCDS12343.1																																																																																				0.749	KLF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460562.1			2	4						2	4	---	---	---	---	-	16436142	GCC	-	16436140	7	5	440	1	0	1	0	1	0	0	0	0	8346	962	34	0	195	0	KLF2	19	16436140	In_Frame_Del	DEL	GCC	TCGA-FY-A3YR-01A-11D-A22Z-08		16436140	42692843	19	9012											
ZNF343	79175	broad.mit.edu	37	chr20	2473468	2473468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatccctgaatgtaactgGtacctacaaacaaccagtaa	5	12	0	1			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr20:2473468G>A	ENST00000278772.4	-	5	668	c.181C>T	c.(181-183)Cca>Tca	p.P61S	ZNF343_ENST00000358413.2_Missense_Mutation_p.P61S|RP4-734P14.4_ENST00000461548.1_Missense_Mutation_p.P61S|ZNF343_ENST00000381253.1_Missense_Mutation_p.P61S	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	61					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)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						AATGTAACTGGTACCTACAAA	0.458																																						ENST00000278772.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						c.(181-183)Cca>Tca		zinc finger protein 343							156	146	149					20																	2473468		2203	4300	6503	SO:0001583	missense	79175				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:2473468G>A	AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"Zinc fingers, C2H2-type", "-"	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.181C>T	20.37:g.2473468G>A	ENSP00000278772:p.Pro61Ser					ZNF343_ENST00000381253.1_Missense_Mutation_p.P61S|ZNF343_ENST00000358413.2_Missense_Mutation_p.P61S|RP4-734P14.4_ENST00000461548.1_Missense_Mutation_p.P61S	p.P61S	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN			5	668	-			61					Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Missense_Mutation	SNP	ENST00000278772.4	37	c.181C>T	CCDS13028.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350227	0.41599	.	.	ENSG00000088876	ENST00000278772;ENST00000445484;ENST00000381253;ENST00000358413;ENST00000421216	T;T;T;T;T	0.00760	5.73;5.73;5.73;5.73;5.73	3.96	-0.654	0.11443	Krueppel-associated box (1);	.	.	.	.	T	0.00412	0.0013	N	0.08118	0	0.09310	N	1	B	0.29862	0.259	B	0.26614	0.071	T	0.40421	-0.9564	9	0.02654	T	1	.	4.3472	0.11138	0.3297:0.1698:0.5005:0.0	.	61	Q6P1L6	ZN343_HUMAN	S	61	ENSP00000278772:P61S;ENSP00000399682:P61S;ENSP00000370652:P61S;ENSP00000351188:P61S;ENSP00000416488:P61S	ENSP00000443337:P61S	P	-	1	0	ZNF343	2421468	0.000000	0.05858	0.000000	0.03702	0.871000	0.50021	-0.208000	0.09371	-0.181000	0.10619	0.585000	0.79938	CCA		0.458	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1	NM_024325		33	41	0	0	0	1	0	33	41					A	2473468	G	A	2473468	3	1	440	1	0	0	0	0	1	0	0	0	17855	1261	44	2	1626	2	ZNF343	20	2473468	Missense_Mutation	SNP	G	TCGA-FY-A3YR-01A-11D-A22Z-08		2473468	60552052	20	9013											
MYO18B	84700	broad.mit.edu	37	chr22	26422689	26422689	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcccagtccttcagcggcccTctcggagttcgtggaagggc	14	14	2	0			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr22:26422689T>A	ENST00000407587.2	+	43	6921	c.6752T>A	c.(6751-6753)cTc>cAc	p.L2251H	MYO18B_ENST00000536101.1_Missense_Mutation_p.L2250H|MYO18B_ENST00000335473.7_Missense_Mutation_p.L2250H			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2250						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCAGCGGCCCTCTCGGAGTTC	0.607																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(6748-6750)cTc>cAc		myosin XVIIIB							21	22	22					22																	26422689		1886	4092	5978	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26422689T>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6752T>A	22.37:g.26422689T>A	ENSP00000386096:p.Leu2251His					MYO18B_ENST00000536101.1_Missense_Mutation_p.L2250H|MYO18B_ENST00000407587.2_Missense_Mutation_p.L2251H	p.L2250H	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			43	6999	+			2250					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.6749T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.2|22.2	4.251625|4.251625	0.80135|0.80135	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587|ENST00000543971	D;D;D|.	0.95588|.	-3.72;-3.72;-3.75|.	4.94|4.94	4.94|4.94	0.65067|0.65067	.|.	0.000000|.	0.44902|.	D|.	0.000412|.	T|T	0.70859|0.70859	0.3272|0.3272	M|M	0.66939|0.66939	2.045|2.045	0.42118|0.42118	D|D	0.991415|0.991415	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.91635|.	0.999;0.998;0.998;0.999;0.999|.	T|T	0.71533|0.71533	-0.4564|-0.4564	10|5	0.87932|.	D|.	0|.	.|.	13.4051|13.4051	0.60908|0.60908	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1763;2252;2250;2251;2250|.	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7|.	.;.;MY18B_HUMAN;.;.|.	H|T	2250;2250;2251|200	ENSP00000441229:L2250H;ENSP00000334563:L2250H;ENSP00000386096:L2251H|.	ENSP00000334563:L2250H|.	L|S	+|+	2|1	0|0	MYO18B|MYO18B	24752689|24752689	1.000000|1.000000	0.71417|0.71417	0.972000|0.972000	0.41901|0.41901	0.976000|0.976000	0.68499|0.68499	5.473000|5.473000	0.66774|0.66774	1.862000|1.862000	0.54008|0.54008	0.402000|0.402000	0.26972|0.26972	CTC|TCT		0.607	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		11	12	0	0	0	1	0	11	12					A	26422689	T	A	26422689	3	1	440	1	0	0	0	0	1	0	0	0	10066	1551	54	5	6915	5	MYO18B	22	26422689	Missense_Mutation	SNP	T	TCGA-FY-A3YR-01A-11D-A22Z-08		26422689	24881877	21	9014											
CD38	952	broad.mit.edu	37	chr4	15841656	15841656	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttctattttagcacttttGggagtgtggaagtccataat	9	6	2	0			TCGA-FY-A40K-01A-11D-A23M-08	TCGA-FY-A40K-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353963dc-f500-47e0-ab0b-b7eb3cfc648d	4fdd7299-93c1-4177-924c-4152bb796d85	g.chr4:15841656G>T	ENST00000226279.3	+	6	804	c.667G>T	c.(667-669)Ggg>Tgg	p.G223W		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	223					apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|female pregnancy (GO:0007565)|long term synaptic depression (GO:0060292)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone resorption (GO:0045779)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hydroperoxide (GO:0033194)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|phosphorus-oxygen lyase activity (GO:0016849)|transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						TAGCACTTTTGGGAGTGTGGA	0.463																																						ENST00000226279.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						c.(667-669)Ggg>Tgg		CD38 molecule							215	233	227					4																	15841656		2203	4300	6503	SO:0001583	missense	952				B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity	g.chr4:15841656G>T	D84276	CCDS3417.1	4p15.32	2010-05-04	2006-03-28		ENSG00000004468	ENSG00000004468	3.2.2.5	"CD molecules"	1667	protein-coding gene	gene with protein product	"ADP-ribosyl cyclase 1", "NAD(+) nucleosidase"	107270	"CD38 antigen (p45)"			9074508, 2319135	Standard	NM_001775		Approved		uc003gol.1	P28907	OTTHUMG00000048206	ENST00000226279.3:c.667G>T	4.37:g.15841656G>T	ENSP00000226279:p.Gly223Trp						p.G223W	NM_001775.2	NP_001766.2	P28907	CD38_HUMAN			6	804	+			223					O00121|O00122|Q96HY4	Missense_Mutation	SNP	ENST00000226279.3	37	c.667G>T	CCDS3417.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.386010	0.42308	.	.	ENSG00000004468	ENST00000226279;ENST00000510674	T;T	0.63096	-0.02;-0.02	4.93	4.93	0.64822	NAD(P)-binding domain (1);	0.168745	0.52532	D	0.000063	T	0.79736	0.4497	M	0.83483	2.645	0.53005	D	0.999967	D	0.89917	1.0	D	0.97110	1.0	T	0.82526	-0.0413	10	0.87932	D	0	-16.43	13.5292	0.61613	0.0:0.0:1.0:0.0	.	223	P28907	CD38_HUMAN	W	223;111	ENSP00000226279:G223W;ENSP00000423047:G111W	ENSP00000226279:G223W	G	+	1	0	CD38	15450754	1.000000	0.71417	0.938000	0.37757	0.178000	0.23041	4.004000	0.57068	2.567000	0.86603	0.655000	0.94253	GGG		0.463	CD38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250322.2	NM_001775		19	178	1	0	9.95505e-16	1	1.05406e-15	19	178					T	15841656	G	T	15841656	3	4	441	1	0	0	0	0	1	0	0	0	3009	1348	47	4	689	4	CD38	4	15841656	Missense_Mutation	SNP	G	TCGA-FY-A40K-01A-11D-A23M-08		15841656	175312620	1	9015											
BAT2	7916	broad.mit.edu	37	chr6	31595709	31595709	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagagcgccgggcagcctgTgctgagaagctcaagcgact	15	11	1	2			TCGA-FY-A40K-01A-11D-A23M-08	TCGA-FY-A40K-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353963dc-f500-47e0-ab0b-b7eb3cfc648d	4fdd7299-93c1-4177-924c-4152bb796d85	g.chr6:31595709T>G	ENST00000376033.2	+	12	1692	c.1458T>G	c.(1456-1458)tgT>tgG	p.C486W	PRRC2A_ENST00000376007.4_Missense_Mutation_p.C486W	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	486	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GGGCAGCCTGTGCTGAGAAGC	0.622																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(1456-1458)tgT>tgG		proline-rich coiled-coil 2A							91	99	96					6																	31595709		1511	2709	4220	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31595709T>G	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.1458T>G	6.37:g.31595709T>G	ENSP00000365201:p.Cys486Trp					PRRC2A_ENST00000376007.4_Missense_Mutation_p.C486W	p.C486W	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			12	1692	+			486			2 X type B repeats.|4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.1458T>G	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	T	9.421	1.083129	0.20309	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033	T;T	0.17370	2.28;2.28	4.38	0.416	0.16416	.	0.000000	0.52532	D	0.000061	T	0.22003	0.0530	M	0.67397	2.05	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.03175	-1.1064	10	0.87932	D	0	-7.7198	8.306	0.32042	0.0:0.2511:0.0:0.7489	.	486	P48634	PRC2A_HUMAN	W	486;475;486;486	ENSP00000365175:C486W;ENSP00000365201:C486W	ENSP00000365175:C486W	C	+	3	2	PRRC2A	31703688	0.905000	0.30787	0.998000	0.56505	0.989000	0.77384	-0.080000	0.11339	0.003000	0.14656	0.459000	0.35465	TGT		0.622	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		51	107	0	0	0	1	0	51	107					G	31595709	T	G	31595709	3	3	441	1	0	0	0	0	1	0	0	0	1319	1702	59	5	1500	5	BAT2	6	31595709	Missense_Mutation	SNP	T	TCGA-FY-A40K-01A-11D-A23M-08		31595709	139519358	2	9016											
AKAP12	9590	broad.mit.edu	37	chr6	151670359	151670359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaacaagaaaaagaacctaGcaagtctgcagaatctccga	8	9	2	3			TCGA-FY-A40K-01A-11D-A23M-08	TCGA-FY-A40K-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353963dc-f500-47e0-ab0b-b7eb3cfc648d	4fdd7299-93c1-4177-924c-4152bb796d85	g.chr6:151670359G>A	ENST00000253332.1	+	3	1022	c.833G>A	c.(832-834)aGc>aAc	p.S278N	AKAP12_ENST00000354675.6_Missense_Mutation_p.S180N|AKAP12_ENST00000402676.2_Missense_Mutation_p.S278N|snoU13_ENST00000458767.1_RNA|AKAP12_ENST00000359755.5_Missense_Mutation_p.S173N			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	278	Involved in PKC-binding. {ECO:0000305}.				G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AAAGAACCTAGCAAGTCTGCA	0.498																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(832-834)aGc>aAc		A kinase (PRKA) anchor protein 12							45	49	48					6																	151670359		2203	4299	6502	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151670359G>A	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"A-kinase anchor proteins"	370	protein-coding gene	gene with protein product	"gravin", "Src-Suppressed C Kinase Substrate"	604698	"A kinase (PRKA) anchor protein (gravin) 12"			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.833G>A	6.37:g.151670359G>A	ENSP00000253332:p.Ser278Asn					AKAP12_ENST00000253332.1_Missense_Mutation_p.S278N|AKAP12_ENST00000354675.6_Missense_Mutation_p.S180N|AKAP12_ENST00000359755.5_Missense_Mutation_p.S173N	p.S278N	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	1073	+		Ovarian(120;0.125)	278			Involved in PKC-binding (Probable).		O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.833G>A	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.561289	0.27915	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.06768	3.26;3.26;3.27;3.27	5.39	-1.0	0.10196	.	0.604415	0.13866	N	0.357314	T	0.01454	0.0047	L	0.29908	0.895	0.09310	N	1	B;B;B	0.21225	0.053;0.053;0.031	B;B;B	0.15484	0.013;0.013;0.006	T	0.47209	-0.9135	10	0.18276	T	0.48	.	7.395	0.26931	0.0734:0.4865:0.301:0.1391	.	173;180;278	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	N	278;278;180;173	ENSP00000384537:S278N;ENSP00000253332:S278N;ENSP00000346702:S180N;ENSP00000352794:S173N	ENSP00000253332:S278N	S	+	2	0	AKAP12	151712052	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.595000	0.05727	-0.164000	0.10927	0.650000	0.86243	AGC		0.498	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			4	49	0	0	0	1	0	4	49					A	151670359	G	A	151670359	3	1	441	1	0	0	0	0	1	0	0	0	448	971	34	2	872	2	AKAP12	6	151670359	Missense_Mutation	SNP	G	TCGA-FY-A40K-01A-11D-A23M-08	120074650	151670359	19444708	3	9017											
MMD2	221938	broad.mit.edu	37	chr7	4947083	4947083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagaggtacctccagatggCatagtagtgggtaccagcac	12	9	0	2			TCGA-FY-A40K-01A-11D-A23M-08	TCGA-FY-A40K-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353963dc-f500-47e0-ab0b-b7eb3cfc648d	4fdd7299-93c1-4177-924c-4152bb796d85	g.chr7:4947083C>T	ENST00000404774.3	-	7	951	c.757G>A	c.(757-759)Gcc>Acc	p.A253T	MMD2_ENST00000401401.3_Missense_Mutation_p.A229T|MMD2_ENST00000406755.1_3'UTR	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	253						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		CTCCAGATGGCATAGTAGTGG	0.552																																						ENST00000404774.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14						c.(757-759)Gcc>Acc		monocyte to macrophage differentiation-associated 2							106	107	106					7																	4947083		2034	4179	6213	SO:0001583	missense	221938					integral to membrane	receptor activity	g.chr7:4947083C>T	BC037881	CCDS47529.1, CCDS47530.1, CCDS59047.1	7p22	2004-06-23			ENSG00000136297	ENSG00000136297			30133	protein-coding gene	gene with protein product		614581				12477932	Standard	NM_198403		Approved	PAQR10	uc003sno.4	Q8IY49	OTTHUMG00000151844	ENST00000404774.3:c.757G>A	7.37:g.4947083C>T	ENSP00000384690:p.Ala253Thr					MMD2_ENST00000406755.1_3'UTR|MMD2_ENST00000401401.3_Missense_Mutation_p.A229T	p.A253T	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)	7	951	-		Ovarian(82;0.0175)	253					B5MBW4|Q6NVU5|Q6TCH0	Missense_Mutation	SNP	ENST00000404774.3	37	c.757G>A	CCDS47529.1	.	.	.	.	.	.	.	.	.	.	C	35	5.590949	0.96590	.	.	ENSG00000136297	ENST00000404774;ENST00000401401	.	.	.	5.53	5.53	0.82687	.	0.208124	0.39985	N	0.001201	D	0.84170	0.5413	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.77557	0.945;0.99	D	0.86411	0.1748	9	0.87932	D	0	-37.7259	18.5266	0.90975	0.0:1.0:0.0:0.0	.	253;229	Q8IY49;Q8IY49-2	PAQRA_HUMAN;.	T	253;229	.	ENSP00000384141:A229T	A	-	1	0	MMD2	4913609	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.686000	0.84128	2.610000	0.88304	0.650000	0.86243	GCC		0.552	MMD2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324136.1	NM_198403		10	68	0	0	0	1	0	10	68					T	4947083	C	T	4947083	3	4	441	1	0	0	0	0	1	0	0	0	9644	710	25	2	59	2	MMD2	7	4947083	Missense_Mutation	SNP	C	TCGA-FY-A40K-01A-11D-A23M-08		4947083	154191580	4	9018											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FY-A40K-01A-11D-A23M-08	TCGA-FY-A40K-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353963dc-f500-47e0-ab0b-b7eb3cfc648d	4fdd7299-93c1-4177-924c-4152bb796d85	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		18	48	0	0	0	1	0	18	48					T	140453136	A	T	140453136	3	4	441	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FY-A40K-01A-11D-A23M-08	135506053	140453136	18685527	5	9019											
CYP2C19	1557	broad.mit.edu	37	chr10	96535189	96535189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatggaaggagatccggcGtttctccctcatgacgctgc	13	11	2	3	rs141774245	byFrequency	TCGA-FY-A40K-01A-11D-A23M-08	TCGA-FY-A40K-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353963dc-f500-47e0-ab0b-b7eb3cfc648d	4fdd7299-93c1-4177-924c-4152bb796d85	g.chr10:96535189G>A	ENST00000371321.3	+	3	456	c.374G>A	c.(373-375)cGt>cAt	p.R125H	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	125					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)	p.R125H(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	GAGATCCGGCGTTTCTCCCTC	0.507																																						ENST00000371321.3																			1	Substitution - Missense(1)	p.R125H(1)	endometrium(1)	central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43						c.(373-375)cGt>cAt		cytochrome P450, family 2, subfamily C, polypeptide 19	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	G	HIS/ARG	0,4406		0,0,2203	142	132	136		374	3.9	0.0	10	dbSNP_134	136	7,8593	5.0+/-18.6	0,7,4293	no	missense	CYP2C19	NM_000769.1	29	0,7,6496	AA,AG,GG		0.0814,0.0,0.0538	possibly-damaging	125/491	96535189	7,12999	2203	4300	6503	SO:0001583	missense	1557				exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96535189G>A	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"Cytochrome P450s"	2621	protein-coding gene	gene with protein product		124020	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.374G>A	10.37:g.96535189G>A	ENSP00000360372:p.Arg125His					CYP2C19_ENST00000464755.1_3'UTR	p.R125H	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	3	456	+		Colorectal(252;0.09)	125					P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	c.374G>A	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	G	30	5.055875	0.93793	0.0	8.14E-4	ENSG00000165841	ENST00000371321	T	0.15603	2.41	3.9	3.9	0.45041	.	0.000000	0.64402	U	0.000003	T	0.28167	0.0695	M	0.88450	2.955	0.36709	D	0.880548	P	0.47604	0.898	B	0.40677	0.337	T	0.54629	-0.8265	10	0.56958	D	0.05	.	13.7827	0.63091	0.0:0.0:1.0:0.0	.	125	P33261	CP2CJ_HUMAN	H	125	ENSP00000360372:R125H	ENSP00000360372:R125H	R	+	2	0	CYP2C19	96525179	0.075000	0.21258	0.004000	0.12327	0.777000	0.43975	2.426000	0.44731	1.888000	0.54679	0.405000	0.27470	CGT		0.507	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		49	90	0	0	0	1	0	49	90					A	96535189	G	A	96535189	3	1	441	1	0	0	0	0	1	0	0	0	4166	1145	40	1	384	1	CYP2C19	10	96535189	Missense_Mutation	SNP	G	TCGA-FY-A40K-01A-11D-A23M-08		96535189	38999558	6	9020											
RTTN	25914	broad.mit.edu	37	chr18	67872889	67872889	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcctgatgagccctgccagGaccatctcgtcccgtcaatc	8	16	2	2			TCGA-FY-A40K-01A-11D-A23M-08	TCGA-FY-A40K-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353963dc-f500-47e0-ab0b-b7eb3cfc648d	4fdd7299-93c1-4177-924c-4152bb796d85	g.chr18:67872889G>A	ENST00000255674.6	-	1	292	c.6C>T	c.(4-6)gtC>gtT	p.V2V	RTTN_ENST00000437017.1_Silent_p.V2V|RTTN_ENST00000454359.1_Silent_p.V2V	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	2					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)				GCCCTGCCAGGACCATCTCGT	0.602																																						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.(4-6)gtC>gtT		rotatin							41	48	45					18																	67872889		1996	4152	6148	SO:0001819	synonymous_variant	25914						binding	g.chr18:67872889G>A	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.6C>T	18.37:g.67872889G>A						RTTN_ENST00000437017.1_Silent_p.V2V|RTTN_ENST00000454359.1_Silent_p.V2V	p.V2V	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN			1	292	-		Esophageal squamous(42;0.129)	2					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Silent	SNP	ENST00000255674.6	37	c.6C>T	CCDS42443.1																																																																																				0.602	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		17	27	0	0	0	1	0	17	27					A	67872889	G	A	67872889	2	1	441	1	0	0	0	0	0	0	0	1	13737	1161	41	2		2	RTTN	18	67872889	Silent	SNP	G	TCGA-FY-A40K-01A-11D-A23M-08		67872889	10204359	7	9021											
ADC	113451	broad.mit.edu	37	chr1	33583674	33583675	+	Frame_Shift_Ins	INS	-	-	C													gggttcccccttttgggggaINScccaggcctgccacatcacc					rs576544248		TCGA-FY-A40L-01A-11D-A23M-08	TCGA-FY-A40L-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	382b11e1-7464-4ff6-948b-c377540e1023	4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0	g.chr1:33583674_33583675insC	ENST00000294517.6	+	11	1788_1789	c.1201_1202insC	c.(1201-1203)accfs	p.T401fs	ADC_ENST00000398167.1_Frame_Shift_Ins_p.T421fs|ADC_ENST00000373441.1_Frame_Shift_Ins_p.T421fs|ADC_ENST00000373443.3_Frame_Shift_Ins_p.T401fs|ADC_ENST00000484656.1_3'UTR	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		401					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	CTTTTGGGGGACCCAGGCCTGC	0.624																																						ENST00000294517.6																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11						c.(1201-1203)ccafs		arginine decarboxylase	L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)																																			SO:0001589	frameshift_variant	113451				polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity	g.chr1:33583674_33583675insC																												ENST00000294517.6:c.1204dupC	1.37:g.33583677_33583677dupC	ENSP00000294517:p.Thr401fs					ADC_ENST00000484656.1_3'UTR|ADC_ENST00000398167.1_Frame_Shift_Ins_p.P421fs|ADC_ENST00000373443.3_Frame_Shift_Ins_p.P401fs|ADC_ENST00000373441.1_Frame_Shift_Ins_p.P421fs	p.P401fs	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN			11	1788_1789	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	401					B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Frame_Shift_Ins	INS	ENST00000294517.6	37	c.1201_1202insC	CCDS375.1																																																																																				0.624	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011867.1			10	125						10	125	---	---	---	---	C	33583675	-	C	33583674	7	5	442	1	0	1	1	0	0	0	0	0	287	275	10	0	1231	0	ADC	1	33583674	Frame_Shift_Ins	INS	-	TCGA-FY-A40L-01A-11D-A23M-08		33583674	215666947	1	9022											
USP24	23358	broad.mit.edu	37	chr1	55612684	55612684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattccagcccagatacagaGtagcttcttgcaagaaaaac	8	10	1	3			TCGA-FY-A40L-01A-11D-A23M-08	TCGA-FY-A40L-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	382b11e1-7464-4ff6-948b-c377540e1023	4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0	g.chr1:55612684G>A	ENST00000294383.6	-	19	2167	c.2168C>T	c.(2167-2169)aCt>aTt	p.T723I	USP24_ENST00000407756.1_Missense_Mutation_p.T563I	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	723					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CAGATACAGAGTAGCTTCTTG	0.393																																						ENST00000294383.6																			0				breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(2167-2169)aCt>aTt		ubiquitin specific peptidase 24							105	99	101					1																	55612684		1850	4094	5944	SO:0001583	missense	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55612684G>A	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.2168C>T	1.37:g.55612684G>A	ENSP00000294383:p.Thr723Ile					USP24_ENST00000407756.1_Missense_Mutation_p.T563I	p.T723I	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN			19	2167	-			723					Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	c.2168C>T	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359295	0.61403	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.02323	4.34;4.35	5.93	5.93	0.95920	.	0.053328	0.64402	D	0.000001	T	0.03053	0.0090	N	0.14661	0.345	0.40617	D	0.981721	B	0.23128	0.08	B	0.17433	0.018	T	0.59768	-0.7392	10	0.38643	T	0.18	.	20.3397	0.98756	0.0:0.0:1.0:0.0	.	563	B7WPF4	.	I	723;563	ENSP00000294383:T723I;ENSP00000385700:T563I	ENSP00000294383:T723I	T	-	2	0	USP24	55385272	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	6.993000	0.76245	2.803000	0.96430	0.585000	0.79938	ACT		0.393	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			6	55	0	0	0	1	0	6	55					A	55612684	G	A	55612684	3	1	442	1	0	0	0	0	1	0	0	0	17052	1029	36	2	5894	2	USP24	1	55612684	Missense_Mutation	SNP	G	TCGA-FY-A40L-01A-11D-A23M-08	22029010	55612684	193637937	2	9023											
IGFN1	91156	broad.mit.edu	37	chr1	201184678	201184678	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatttctagattcccctaccAttgctccagatgtgacagag	7	11	1	4			TCGA-FY-A40L-01A-11D-A23M-08	TCGA-FY-A40L-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	382b11e1-7464-4ff6-948b-c377540e1023	4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0	g.chr1:201184678A>G	ENST00000335211.4	+	15	9137	c.9007A>G	c.(9007-9009)Att>Gtt	p.I3003V	IGFN1_ENST00000295591.8_Missense_Mutation_p.I163V|IGFN1_ENST00000451870.2_Missense_Mutation_p.I546V	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	546						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TTCCCCTACCATTGCTCCAGA	0.522																																						ENST00000335211.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(9007-9009)Att>Gtt		immunoglobulin-like and fibronectin type III domain containing 1							58	61	60					1																	201184678		2203	4300	6503	SO:0001583	missense	91156							g.chr1:201184678A>G	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.9007A>G	1.37:g.201184678A>G	ENSP00000334714:p.Ile3003Val					IGFN1_ENST00000451870.2_Missense_Mutation_p.I546V|IGFN1_ENST00000295591.8_Missense_Mutation_p.I163V	p.I3003V	NM_001164586.1	NP_001158058.1					15	9137	+								F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	c.9007A>G	CCDS53455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.72|13.72	2.321803|2.321803	0.41096|0.41096	.|.	.|.	ENSG00000163395|ENSG00000163395	ENST00000412892|ENST00000335211;ENST00000451870;ENST00000295591	.|T;T;T	.|0.42900	.|0.96;0.96;0.96	4.65|4.65	3.43|3.43	0.39272|0.39272	.|.	.|0.235256	.|0.35646	.|N	.|0.003075	T|T	0.36220|0.36220	0.0959|0.0959	L|L	0.51422|0.51422	1.61|1.61	0.23010|0.23010	N|N	0.998438|0.998438	.|B	.|0.31351	.|0.32	.|B	.|0.40940	.|0.344	T|T	0.16928|0.16928	-1.0386|-1.0386	5|10	.|0.25751	.|T	.|0.34	.|.	3.2096|3.2096	0.06677|0.06677	0.6046:0.2438:0.1515:0.0|0.6046:0.2438:0.1515:0.0	.|.	.|3003	.|F8WAI1	.|.	R|V	420|3003;546;163	.|ENSP00000334714:I3003V;ENSP00000398386:I546V;ENSP00000295591:I163V	.|ENSP00000295591:I163V	H|I	+|+	2|1	0|0	IGFN1|IGFN1	199451301|199451301	0.232000|0.232000	0.23762|0.23762	0.969000|0.969000	0.41365|0.41365	0.647000|0.647000	0.38526|0.38526	0.685000|0.685000	0.25378|0.25378	1.731000|1.731000	0.51592|0.51592	0.459000|0.459000	0.35465|0.35465	CAT|ATT		0.522	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		49	69	0	0	0	1	0	49	69					G	201184678	A	G	201184678	3	3	442	1	0	0	0	0	1	0	0	0	7590	217	8	3	9061	3	IGFN1	1	201184678	Missense_Mutation	SNP	A	TCGA-FY-A40L-01A-11D-A23M-08	145571994	201184678	48065943	3	9024											
CAD	790	broad.mit.edu	37	chr2	27458192	27458192	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccagtactggggaggtggCcggctttggggagagccgct	19	9	0	1			TCGA-FY-A40L-01A-11D-A23M-08	TCGA-FY-A40L-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	382b11e1-7464-4ff6-948b-c377540e1023	4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0	g.chr2:27458192C>T	ENST00000403525.1	+	23	3821	c.3677C>T	c.(3676-3678)gCc>gTc	p.A1226V	CAD_ENST00000264705.4_Missense_Mutation_p.A1289V			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGGAGGTGGCCGGCTTTGGG	0.572																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(3865-3867)gCc>gTc		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						85	89	87					2																	27458192		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27458192C>T	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.3677C>T	2.37:g.27458192C>T	ENSP00000384510:p.Ala1226Val					CAD_ENST00000403525.1_Missense_Mutation_p.A1226V	p.A1289V	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			24	4028	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1289			CPSase (Carbamoyl-phosphate synthase).|CPSase B.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.3866C>T		.	.	.	.	.	.	.	.	.	.	C	33	5.286577	0.95517	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	T;T	0.74632	-0.86;-0.86	5.0	5.0	0.66597	ATP-grasp fold, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.88426	0.6433	M	0.88181	2.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.90654	0.4585	10	0.87932	D	0	-2.7978	17.2192	0.86952	0.0:1.0:0.0:0.0	.	1226;1289	F8VPD4;P27708	.;PYR1_HUMAN	V	1289;1226	ENSP00000264705:A1289V;ENSP00000384510:A1226V	ENSP00000264705:A1289V	A	+	2	0	CAD	27311696	1.000000	0.71417	0.952000	0.39060	0.909000	0.53808	7.124000	0.77185	2.479000	0.83701	0.655000	0.94253	GCC		0.572	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			43	68	0	0	0	1	0	43	68					T	27458192	C	T	27458192	3	4	442	1	0	0	0	0	1	0	0	0	2565	739	26	2	3960	2	CAD	2	27458192	Missense_Mutation	SNP	C	TCGA-FY-A40L-01A-11D-A23M-08		27458192	215741181	4	9025											
ACAD9	28976	broad.mit.edu	37	chr3	128618263	128618263	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agactttggtggagtcactaAtgggaaacccgaagataaat	11	6	1	2			TCGA-FY-A40L-01A-11D-A23M-08	TCGA-FY-A40L-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	382b11e1-7464-4ff6-948b-c377540e1023	4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0	g.chr3:128618263A>T	ENST00000308982.7	+	7	848	c.767A>T	c.(766-768)aAt>aTt	p.N256I	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	256						dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						GGAGTCACTAATGGGAAACCC	0.473																																						ENST00000308982.7																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(766-768)aAt>aTt		acyl-CoA dehydrogenase family, member 9							114	114	114					3																	128618263		2203	4300	6503	SO:0001583	missense	28976					mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	g.chr3:128618263A>T	AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646		"Mitochondrial respiratory chain complex assembly factors"	21497	protein-coding gene	gene with protein product		611103	"acyl-Coenzyme A dehydrogenase family, member 9"			12359260, 21057504, 20816094	Standard	NM_014049		Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.767A>T	3.37:g.128618263A>T	ENSP00000312618:p.Asn256Ile					ACAD9_ENST00000511526.1_3'UTR	p.N256I	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN			7	848	+			256					D3DNB8|Q8WXX3	Missense_Mutation	SNP	ENST00000308982.7	37	c.767A>T	CCDS3053.1	.	.	.	.	.	.	.	.	.	.	A	16.29	3.080368	0.55753	.	.	ENSG00000177646	ENST00000308982;ENST00000334167	D	0.98649	-5.05	5.47	0.173	0.15036	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);	0.222054	0.52532	D	0.000061	D	0.92146	0.7510	N	0.02697	-0.525	0.33209	D	0.553197	B;P;P	0.47910	0.006;0.902;0.902	B;B;B	0.44278	0.017;0.372;0.445	D	0.91692	0.5367	10	0.14656	T	0.56	.	5.0348	0.14428	0.5966:0.1458:0.2576:0.0	.	133;206;256	Q9H9W4;Q59FN3;Q9H845	.;.;ACAD9_HUMAN	I	256;123	ENSP00000312618:N256I	ENSP00000312618:N256I	N	+	2	0	ACAD9	130100953	0.834000	0.29399	0.008000	0.14137	0.963000	0.63663	2.080000	0.41586	-0.183000	0.10585	-0.408000	0.06270	AAT		0.473	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358405.1	NM_014049		53	61	0	0	0	1	0	53	61					T	128618263	A	T	128618263	3	4	442	1	0	0	0	0	1	0	0	0	111	101	4	5	793	5	ACAD9	3	128618263	Missense_Mutation	SNP	A	TCGA-FY-A40L-01A-11D-A23M-08		128618263	69404167	5	9026											
TLR2	7097	broad.mit.edu	37	chr4	154625331	154625331	+	Frame_Shift_Del	DEL	T	T	-													attgatatcagtaagaatagTtttcattctatgcctgaaac							TCGA-FY-A40L-01A-11D-A23M-08	TCGA-FY-A40L-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	382b11e1-7464-4ff6-948b-c377540e1023	4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0	g.chr4:154625331delT	ENST00000260010.6	+	1	2680	c.1272delT	c.(1270-1272)agtfs	p.S424fs		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	424					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|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)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	GTAAGAATAGTTTTCATTCTA	0.363																																						ENST00000260010.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29						c.(1270-1272)agfs		toll-like receptor 2							55	58	57					4																	154625331		2203	4299	6502	SO:0001589	frameshift_variant	7097				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	g.chr4:154625331delT	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"CD molecules"	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.1272delT	4.37:g.154625331delT	ENSP00000260010:p.Ser424fs						p.S424fs	NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN			1	2680	+	all_hematologic(180;0.093)	Renal(120;0.117)	424					B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Frame_Shift_Del	DEL	ENST00000260010.6	37	c.1272delT	CCDS3784.1																																																																																				0.363	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1			35	35						35	35	---	---	---	---	-	154625331	T	-	154625331	7	5	442	1	0	1	0	1	0	0	0	0	15948	1722	60	0	1274	0	TLR2	4	154625331	Frame_Shift_Del	DEL	T	TCGA-FY-A40L-01A-11D-A23M-08		154625331	36528945	6	9027											
PDZD2	23037	broad.mit.edu	37	chr5	31983721	31983721	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaaacgccgcttctcaaaaGgtgggaagacggacttccaa	10	11	1	1			TCGA-FY-A40L-01A-11D-A23M-08	TCGA-FY-A40L-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	382b11e1-7464-4ff6-948b-c377540e1023	4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0	g.chr5:31983721G>T	ENST00000438447.1	+	3	1325	c.937G>T	c.(937-939)Ggt>Tgt	p.G313C	PDZD2_ENST00000282493.3_Missense_Mutation_p.G313C			O15018	PDZD2_HUMAN	PDZ domain containing 2	313					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTTCTCAAAAGGTGGGAAGAC	0.458																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(937-939)Ggt>Tgt		PDZ domain containing 2							97	101	100					5																	31983721		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:31983721G>T	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.937G>T	5.37:g.31983721G>T	ENSP00000402033:p.Gly313Cys					PDZD2_ENST00000282493.3_Missense_Mutation_p.G313C	p.G313C			O15018	PDZD2_HUMAN			3	1325	+			313					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.937G>T	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189534	0.57909	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.06687	3.27;3.27	4.96	1.68	0.24146	PDZ/DHR/GLGF (1);	0.844442	0.10135	N	0.711605	T	0.05135	0.0137	N	0.08118	0	0.24385	N	0.994778	P;P	0.51653	0.511;0.947	B;P	0.44561	0.19;0.453	T	0.36939	-0.9727	10	0.56958	D	0.05	.	5.8764	0.18832	0.1132:0.0:0.449:0.4378	.	139;313	B4E3P2;O15018	.;PDZD2_HUMAN	C	313	ENSP00000402033:G313C;ENSP00000282493:G313C	ENSP00000282493:G313C	G	+	1	0	PDZD2	32019478	0.809000	0.29036	0.998000	0.56505	0.952000	0.60782	0.298000	0.19120	0.141000	0.18875	0.650000	0.86243	GGT		0.458	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			56	126	1	0	2.73361e-28	1	2.89929e-28	56	126					T	31983721	G	T	31983721	3	4	442	1	0	0	0	0	1	0	0	0	11701	1000	35	4	943	4	PDZD2	5	31983721	Missense_Mutation	SNP	G	TCGA-FY-A40L-01A-11D-A23M-08		31983721	148931539	7	9028											
PLK2	10769	broad.mit.edu	37	chr5	57755770	57755770	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cggctggctggtaggtgataGtccgcaaaagctccatggtc	14	10	0	1			TCGA-FY-A40L-01A-11D-A23M-08	TCGA-FY-A40L-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	382b11e1-7464-4ff6-948b-c377540e1023	4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0	g.chr5:57755770G>C	ENST00000274289.3	-	1	317	c.17C>G	c.(16-18)aCt>aGt	p.T6S	PLK2_ENST00000502671.1_5'Flank	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	6					G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		GTAGGTGATAGTCCGCAAAAG	0.697																																						ENST00000274289.3																			0				endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26						c.(16-18)aCt>aGt		polo-like kinase 2							21	24	23					5																	57755770		2202	4298	6500	SO:0001583	missense	10769				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr5:57755770G>C		CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"serum-inducible kinase"	607023	"polo-like kinase 2 (Drosophila)"				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.17C>G	5.37:g.57755770G>C	ENSP00000274289:p.Thr6Ser						p.T6S	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)	1	317	-		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)	6					O60679|Q96CV7|Q9UE61	Missense_Mutation	SNP	ENST00000274289.3	37	c.17C>G	CCDS3974.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.237808	0.58886	.	.	ENSG00000145632	ENST00000274289;ENST00000537944;ENST00000442330	T	0.66460	-0.21	4.64	4.64	0.57946	.	0.183801	0.46145	D	0.000319	T	0.49813	0.1579	N	0.14661	0.345	0.38044	D	0.935569	B	0.18310	0.027	B	0.19946	0.027	T	0.53493	-0.8431	10	0.52906	T	0.07	-15.0877	12.7368	0.57230	0.0:0.0:0.8356:0.1644	.	6	Q9NYY3	PLK2_HUMAN	S	6	ENSP00000274289:T6S	ENSP00000274289:T6S	T	-	2	0	PLK2	57791527	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	3.791000	0.55469	2.571000	0.86741	0.491000	0.48974	ACT		0.697	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622		18	31	0	0	0	1	0	18	31					C	57755770	G	C	57755770	3	2	442	1	0	0	0	0	1	0	0	0	12096	1029	36	4	2096	4	PLK2	5	57755770	Missense_Mutation	SNP	G	TCGA-FY-A40L-01A-11D-A23M-08	25772049	57755770	123159490	8	9029											
THBS2	7058	broad.mit.edu	37	chr6	169642009	169642009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggtggtgacatgcggacCcaggcgcagcgtctctgtgt	15	12	1	1			TCGA-FY-A40L-01A-11D-A23M-08	TCGA-FY-A40L-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	382b11e1-7464-4ff6-948b-c377540e1023	4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0	g.chr6:169642009C>T	ENST00000366787.3	-	6	988	c.739G>A	c.(739-741)Ggt>Agt	p.G247S	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	247					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		ACATGCGGACCCAGGCGCAGC	0.642																																					Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			0				NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(739-741)Ggt>Agt		thrombospondin 2							52	47	48					6																	169642009		2202	4300	6502	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169642009C>T		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.739G>A	6.37:g.169642009C>T	ENSP00000355751:p.Gly247Ser						p.G247S	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	6	988	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	247					A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.739G>A	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.404692	0.01155	.	.	ENSG00000186340	ENST00000366787	T	0.77620	-1.11	4.75	3.59	0.41128	.	0.429474	0.19184	N	0.120604	T	0.11495	0.0280	N	0.00146	-1.995	0.23056	N	0.998366	B	0.02656	0.0	B	0.04013	0.001	T	0.45293	-0.9271	10	0.02654	T	1	-25.0648	5.1576	0.15044	0.1578:0.0871:0.0:0.755	.	247	P35442	TSP2_HUMAN	S	247	ENSP00000355751:G247S	ENSP00000355751:G247S	G	-	1	0	THBS2	169383934	0.930000	0.31532	0.180000	0.23079	0.007000	0.05969	1.154000	0.31688	0.671000	0.31185	-0.339000	0.08088	GGT		0.642	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		11	95	0	0	0	1	0	11	95					T	169642009	C	T	169642009	3	4	442	1	0	0	0	0	1	0	0	0	15851	623	22	2	2851	2	THBS2	6	169642009	Missense_Mutation	SNP	C	TCGA-FY-A40L-01A-11D-A23M-08		169642009	1473058	9	9030											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FY-A40L-01A-11D-A23M-08	TCGA-FY-A40L-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	382b11e1-7464-4ff6-948b-c377540e1023	4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		14	40	0	0	0	1	0	14	40					T	140453136	A	T	140453136	3	4	442	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FY-A40L-01A-11D-A23M-08		140453136	18685527	10	9031											
TNFSF15	9966	broad.mit.edu	37	chr9	117553051	117553051	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctgggagtaaatgaagtagTctcccgactctgggatcagc	12	10	3	1			TCGA-FY-A40L-01A-11D-A23M-08	TCGA-FY-A40L-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	382b11e1-7464-4ff6-948b-c377540e1023	4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0	g.chr9:117553051T>A	ENST00000374045.4	-	4	550	c.437A>T	c.(436-438)gAc>gTc	p.D146V	AL390240.1_ENST00000408807.1_RNA|TNFSF15_ENST00000374044.1_Missense_Mutation_p.D69V	NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	146					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cytokine metabolic process (GO:0042107)|immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						AATGAAGTAGTCTCCCGACTC	0.512																																						ENST00000374045.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						c.(436-438)gAc>gTc		tumor necrosis factor (ligand) superfamily, member 15							137	129	132					9																	117553051		2203	4300	6503	SO:0001583	missense	9966				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr9:117553051T>A	AF039390	CCDS6809.1	9q32	2008-07-21			ENSG00000181634	ENSG00000181634		"Tumor necrosis factor (ligand) superfamily"	11931	protein-coding gene	gene with protein product	"vascular endothelial cell growth inhibitor", "TNF superfamily ligand TL1A", "TNF ligand-related molecule 1", "vascular endothelial growth inhibitor-192A"	604052				9434163	Standard	NM_005118		Approved	TL1, VEGI, TL1A, VEGI192A, MGC129934, MGC129935	uc004bjh.3	O95150	OTTHUMG00000021011	ENST00000374045.4:c.437A>T	9.37:g.117553051T>A	ENSP00000363157:p.Asp146Val					TNFSF15_ENST00000374044.1_Missense_Mutation_p.D69V	p.D146V	NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN			4	550	-			146					Q3SX69|Q5VJK8|Q5VWH1|Q8NFE9	Missense_Mutation	SNP	ENST00000374045.4	37	c.437A>T	CCDS6809.1	.	.	.	.	.	.	.	.	.	.	T	13.79	2.342525	0.41498	.	.	ENSG00000181634	ENST00000374045;ENST00000374044	D;D	0.93712	-3.27;-3.27	5.93	5.93	0.95920	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.269347	0.37761	N	0.001954	D	0.94719	0.8296	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.94443	0.7660	10	0.41790	T	0.15	-30.4305	16.3798	0.83452	0.0:0.0:0.0:1.0	.	146;87	O95150;O95150-2	TNF15_HUMAN;.	V	146;69	ENSP00000363157:D146V;ENSP00000363156:D69V	ENSP00000363156:D69V	D	-	2	0	TNFSF15	116592872	1.000000	0.71417	0.999000	0.59377	0.535000	0.34838	4.214000	0.58527	2.271000	0.75665	0.533000	0.62120	GAC		0.512	TNFSF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055424.2	NM_005118		18	30	0	0	0	1	0	18	30					A	117553051	T	A	117553051	3	1	442	1	0	0	0	0	1	0	0	0	16305	1667	58	5	322	5	TNFSF15	9	117553051	Missense_Mutation	SNP	T	TCGA-FY-A40L-01A-11D-A23M-08		117553051	23660380	11	9032											
CASP7	840	broad.mit.edu	37	chr10	115485263	115485263	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aggggggatagatgcaaaacCcttttagagaaacccaaact	10	8	0	2			TCGA-FY-A40L-01A-11D-A23M-08	TCGA-FY-A40L-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	382b11e1-7464-4ff6-948b-c377540e1023	4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0	g.chr10:115485263C>G	ENST00000345633.4	+	6	903	c.519C>G	c.(517-519)acC>acG	p.T173T	CASP7_ENST00000369331.4_Intron|CASP7_ENST00000369321.2_Silent_p.T206T|CASP7_ENST00000369315.1_Silent_p.T173T|CASP7_ENST00000452490.2_Silent_p.T148T|CASP7_ENST00000369318.3_Silent_p.T173T	NM_033339.4	NP_203125.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	173					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway (GO:0097193)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		GATGCAAAACCCTTTTAGAGA	0.408																																						ENST00000369321.2																			0				kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8						c.(616-618)acC>acG		caspase 7, apoptosis-related cysteine peptidase							65	66	66					10																	115485263		2203	4300	6503	SO:0001819	synonymous_variant	840				activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding	g.chr10:115485263C>G	U37448	CCDS7580.1, CCDS7581.1, CCDS7582.1, CCDS58096.1, CCDS73200.1	10q25	2006-02-17	2005-08-17		ENSG00000165806	ENSG00000165806		"Caspases"	1508	protein-coding gene	gene with protein product		601761	"caspase 7, apoptosis-related cysteine protease"			8521391, 8576161	Standard	NM_033338		Approved	MCH3, CMH-1, ICE-LAP3	uc010qsa.3	P55210	OTTHUMG00000019076	ENST00000345633.4:c.519C>G	10.37:g.115485263C>G						CASP7_ENST00000452490.2_Silent_p.T148T|CASP7_ENST00000345633.4_Silent_p.T173T|CASP7_ENST00000369318.3_Silent_p.T173T|CASP7_ENST00000369331.4_Intron|CASP7_ENST00000369315.1_Silent_p.T173T	p.T206T	NM_033338.5	NP_203124.1	P55210	CASP7_HUMAN		Epithelial(162;0.012)|all cancers(201;0.014)	6	938	+		Colorectal(252;0.0946)|Breast(234;0.188)	173					B4DQU7|B5BU45|D3DRB8|Q13364|Q53YD5|Q5SVL0|Q5SVL3|Q96BA0	Silent	SNP	ENST00000345633.4	37	c.618C>G	CCDS7581.1																																																																																				0.408	CASP7-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050439.1	NM_033338		18	41	0	0	0	1	0	18	41					G	115485263	C	G	115485263	2	3	442	1	0	0	0	0	0	0	0	1	2676	610	22	4		4	CASP7	10	115485263	Silent	SNP	C	TCGA-FY-A40L-01A-11D-A23M-08		115485263	20049484	12	9033											
RCOR2	283248	broad.mit.edu	37	chr11	63679850	63679850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctccatggggactggggctCcaggggccccatcctgctca	13	16	1	0			TCGA-FY-A40L-01A-11D-A23M-08	TCGA-FY-A40L-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	382b11e1-7464-4ff6-948b-c377540e1023	4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0	g.chr11:63679850C>T	ENST00000301459.4	-	11	1571	c.1184G>A	c.(1183-1185)gGa>gAa	p.G395E	RCOR2_ENST00000473926.2_5'Flank	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	395					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						GACTGGGGCTCCAGGGGCCCC	0.612																																						ENST00000301459.4																			0				kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						c.(1183-1185)gGa>gAa		REST corepressor 2							51	62	58					11																	63679850		2200	4297	6497	SO:0001583	missense	283248				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr11:63679850C>T	BC010608	CCDS8052.1	11q13.1	2008-02-05			ENSG00000167771	ENSG00000167771			27455	protein-coding gene	gene with protein product						12477932	Standard	NM_173587		Approved		uc001nyc.3	Q8IZ40	OTTHUMG00000150472	ENST00000301459.4:c.1184G>A	11.37:g.63679850C>T	ENSP00000301459:p.Gly395Glu						p.G395E	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN			11	1571	-			395					Q96FP3	Missense_Mutation	SNP	ENST00000301459.4	37	c.1184G>A	CCDS8052.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.763039	0.49574	.	.	ENSG00000167771	ENST00000301459	T	0.41400	1.0	3.98	3.0	0.34707	.	0.525614	0.17614	N	0.167974	T	0.30634	0.0771	L	0.50333	1.59	0.33117	D	0.541294	B	0.23058	0.079	B	0.15870	0.014	T	0.35822	-0.9773	10	0.02654	T	1	.	11.2325	0.48920	0.0:0.7345:0.2655:0.0	.	395	Q8IZ40	RCOR2_HUMAN	E	395	ENSP00000301459:G395E	ENSP00000301459:G395E	G	-	2	0	RCOR2	63436426	0.535000	0.26370	0.973000	0.42090	0.950000	0.60333	1.385000	0.34408	1.142000	0.42291	0.555000	0.69702	GGA		0.612	RCOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318233.1	NM_173587		24	172	0	0	0	1	0	24	172					T	63679850	C	T	63679850	3	4	442	1	0	0	0	0	1	0	0	0	13183	855	30	2	395	2	RCOR2	11	63679850	Missense_Mutation	SNP	C	TCGA-FY-A40L-01A-11D-A23M-08		63679850	71326666	13	9034											
CCDC88B	283234	broad.mit.edu	37	chr11	64108629	64108629	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacccccagacctccagacaTtgggatttgaccctctctca	6	17	2	3			TCGA-FY-A40L-01A-11D-A23M-08	TCGA-FY-A40L-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	382b11e1-7464-4ff6-948b-c377540e1023	4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0	g.chr11:64108629T>C	ENST00000356786.5	+	4	411	c.367T>C	c.(367-369)Ttg>Ctg	p.L123L	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	123						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCTCCAGACATTGGGATTTGA	0.627																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(367-369)Ttg>Ctg		coiled-coil domain containing 88B							99	91	94					11																	64108629		2201	4297	6498	SO:0001819	synonymous_variant	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64108629T>C	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"brain leucine zipper protein", "GRP78-interacting protein induced by ER stress"	611205	"coiled-coil domain containing 88"	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.367T>C	11.37:g.64108629T>C						CCDC88B_ENST00000463837.1_3'UTR	p.L123L	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			4	411	+			123					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Silent	SNP	ENST00000356786.5	37	c.367T>C	CCDS8072.2																																																																																				0.627	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		26	78	0	0	0	1	0	26	78					C	64108629	T	C	64108629	2	2	442	1	0	0	0	0	0	0	0	1	2864	1490	52	3		3	CCDC88B	11	64108629	Silent	SNP	T	TCGA-FY-A40L-01A-11D-A23M-08	428779	64108629	70897887	14	9035											
CEP164	22897	broad.mit.edu	37	chr11	117261870	117261870	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcgagcaggctgccctgaAtgctgcaaaggagaaggctc	15	10	0	2			TCGA-FY-A40L-01A-11D-A23M-08	TCGA-FY-A40L-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	382b11e1-7464-4ff6-948b-c377540e1023	4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0	g.chr11:117261870A>G	ENST00000278935.3	+	17	2369	c.2222A>G	c.(2221-2223)aAt>aGt	p.N741S	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	741	Glu-rich.				cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GCTGCCCTGAATGCTGCAAAG	0.557																																						ENST00000278935.3																			0				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47						c.(2221-2223)aAt>aGt		centrosomal protein 164kDa							37	40	39					11																	117261870		2201	4296	6497	SO:0001583	missense	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117261870A>G	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.2222A>G	11.37:g.117261870A>G	ENSP00000278935:p.Asn741Ser					CEP164_ENST00000533706.1_3'UTR	p.N741S	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	17	2369	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	741			Glu-rich.		Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	c.2222A>G	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	A	1.020	-0.685253	0.03328	.	.	ENSG00000110274	ENST00000278935;ENST00000529538;ENST00000375253	T	0.40225	1.04	5.08	-2.5	0.06384	.	1.166500	0.06388	N	0.716434	T	0.30823	0.0777	L	0.57536	1.79	0.09310	N	1	B;B;B;B	0.31817	0.118;0.187;0.341;0.103	B;B;B;B	0.28011	0.039;0.08;0.085;0.058	T	0.16453	-1.0402	10	0.27785	T	0.31	0.2615	1.348	0.02167	0.4006:0.1465:0.3112:0.1418	.	715;515;741;744	E9PI34;Q9NTH6;Q9UPV0;Q9UPV0-2	.;.;CE164_HUMAN;.	S	741;715;622	ENSP00000278935:N741S	ENSP00000278935:N741S	N	+	2	0	CEP164	116767080	0.065000	0.20965	0.003000	0.11579	0.028000	0.11728	0.580000	0.23803	-0.746000	0.04766	0.482000	0.46254	AAT		0.557	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		18	32	0	0	0	1	0	18	32					G	117261870	A	G	117261870	3	3	442	1	0	0	0	0	1	0	0	0	3249	101	4	3	2280	3	CEP164	11	117261870	Missense_Mutation	SNP	A	TCGA-FY-A40L-01A-11D-A23M-08	53153241	117261870	17744646	15	9036											
C11orf45	219833	broad.mit.edu	37	chr11	128773264	128773264	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccggcagctgcactcacctCacacagccacagccgtgggt	10	17	2	0			TCGA-FY-A40L-01A-11D-A23M-08	TCGA-FY-A40L-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	382b11e1-7464-4ff6-948b-c377540e1023	4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0	g.chr11:128773264C>T	ENST00000524878.1	-	3	449	c.279G>A	c.(277-279)gtG>gtA	p.V93V	C11orf45_ENST00000530168.1_5'UTR|KCNJ5_ENST00000338350.4_Intron|C11orf45_ENST00000310799.3_Silent_p.V93V|KCNJ5_ENST00000529694.1_Intron			Q8TAV5	CK045_HUMAN	chromosome 11 open reading frame 45	93						extracellular region (GO:0005576)				endometrium(1)|kidney(1)|lung(2)|pancreas(1)|prostate(2)	7	all_hematologic(175;0.0641)	Lung NSC(97;0.00521)|Breast(109;0.00715)|all_lung(97;0.0111)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.00531)|LUSC - Lung squamous cell carcinoma(976;0.0193)|Lung(977;0.0195)		GCACTCACCTCACACAGCCAC	0.502																																						ENST00000310799.3																			0				endometrium(1)|kidney(1)|lung(2)|pancreas(1)|prostate(2)	7						c.(277-279)gtG>gtA		chromosome 11 open reading frame 45							75	66	69					11																	128773264		2201	4297	6498	SO:0001819	synonymous_variant	219833					extracellular region		g.chr11:128773264C>T	AK125634	CCDS8478.1	11q24.3	2012-05-30			ENSG00000174370	ENSG00000174370			28584	protein-coding gene	gene with protein product							Standard	NM_001256088		Approved	MGC35558, FLJ43646	uc001qeu.3	Q8TAV5	OTTHUMG00000165796	ENST00000524878.1:c.279G>A	11.37:g.128773264C>T						KCNJ5_ENST00000529694.1_Intron|C11orf45_ENST00000524878.1_Silent_p.V93V|KCNJ5_ENST00000338350.4_Intron|C11orf45_ENST00000530168.1_5'UTR	p.V93V	NM_001256088.1|NM_145013.2	NP_001243017.1|NP_659450.1	Q8TAV5	CK045_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.00531)|LUSC - Lung squamous cell carcinoma(976;0.0193)|Lung(977;0.0195)	3	472	-	all_hematologic(175;0.0641)	Lung NSC(97;0.00521)|Breast(109;0.00715)|all_lung(97;0.0111)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	93					B2RAD0	Silent	SNP	ENST00000524878.1	37	c.279G>A	CCDS8478.1																																																																																				0.502	C11orf45-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386243.1	NM_145013		20	65	0	0	0	1	0	20	65					T	128773264	C	T	128773264	2	4	442	1	0	0	0	0	0	0	0	1	1642	813	29	2		2	C11orf45	11	128773264	Silent	SNP	C	TCGA-FY-A40L-01A-11D-A23M-08	11511394	128773264	6233252	16	9037											
COQ6	51004	broad.mit.edu	37	chr14	74429684	74429684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctccaggaacagattatGgcctttgcaagcaaatgagt	9	8	1	2			TCGA-FY-A40L-01A-11D-A23M-08	TCGA-FY-A40L-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	382b11e1-7464-4ff6-948b-c377540e1023	4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0	g.chr14:74429684G>A	ENST00000334571.2	+	12	1429	c.1389G>A	c.(1387-1389)atG>atA	p.M463I	COQ6_ENST00000394026.4_Missense_Mutation_p.M438I|ENTPD5_ENST00000334696.6_3'UTR|COQ6_ENST00000238709.4_Missense_Mutation_p.M388I|ENTPD5_ENST00000557325.1_Intron|COQ6_ENST00000554920.1_Missense_Mutation_p.G165S	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	463					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cell projection (GO:0042995)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|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)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		AACAGATTATGGCCTTTGCAA	0.338																																						ENST00000334571.2																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(1387-1389)atG>atA		coenzyme Q6 monooxygenase							68	72	71					14																	74429684		2203	4299	6502	SO:0001583	missense	51004				ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	g.chr14:74429684G>A	AF132944	CCDS9823.1, CCDS9824.1, CCDS9824.2	14q24.1	2013-05-01	2013-05-01		ENSG00000119723	ENSG00000119723			20233	protein-coding gene	gene with protein product		614647	"coenzyme Q6 homolog (yeast)", "coenzyme Q6 homolog, monooxygenase (yeast)", "coenzyme Q6 homolog, monooxygenase (S. cerevisiae)"			21540551	Standard	NM_182476		Approved	CGI-10	uc001xph.3	Q9Y2Z9	OTTHUMG00000171260	ENST00000334571.2:c.1389G>A	14.37:g.74429684G>A	ENSP00000333946:p.Met463Ile					ENTPD5_ENST00000557325.1_Intron|COQ6_ENST00000557780.1_3'UTR|ENTPD5_ENST00000334696.6_3'UTR|COQ6_ENST00000238709.4_Missense_Mutation_p.M388I|COQ6_ENST00000394026.4_Missense_Mutation_p.M438I|COQ6_ENST00000554920.1_Missense_Mutation_p.G165S	p.M463I	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00337)	12	1429	+			463					B7Z3K8|Q53GG6|Q86U30|Q96CA1|Q96CK2	Missense_Mutation	SNP	ENST00000334571.2	37	c.1389G>A	CCDS9823.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.86|11.86	1.765142|1.765142	0.31228|0.31228	.|.	.|.	ENSG00000119723|ENSG00000119723	ENST00000554920;ENST00000557780|ENST00000394026;ENST00000555376;ENST00000238709;ENST00000334571;ENST00000556299	.|T;T;T	.|0.49139	.|0.83;0.79;0.84	5.52|5.52	3.71|3.71	0.42584|0.42584	.|.	.|0.108519	.|0.85682	.|D	.|0.000000	T|T	0.31796|0.31796	0.0808|0.0808	N|N	0.25426|0.25426	0.745|0.745	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.14438	.|0.002;0.001;0.007;0.01	.|B;B;B;B	.|0.21360	.|0.002;0.007;0.008;0.034	T|T	0.06373|0.06373	-1.0830|-1.0830	5|10	.|0.15952	.|T	.|0.53	-3.2969|-3.2969	10.2965|10.2965	0.43627|0.43627	0.1574:0.0:0.8426:0.0|0.1574:0.0:0.8426:0.0	.|.	.|438;463;388;386	.|B7Z3K8;Q9Y2Z9;G3XA86;Q86U30	.|.;COQ6_HUMAN;.;.	S|I	165;96|438;386;388;463;151	.|ENSP00000377594:M438I;ENSP00000238709:M388I;ENSP00000333946:M463I	.|ENSP00000238709:M388I	G|M	+|+	1|3	0|0	COQ6|COQ6	73499437|73499437	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.950000|0.950000	0.60333|0.60333	5.730000|5.730000	0.68546|0.68546	0.898000|0.898000	0.36418|0.36418	0.563000|0.563000	0.77884|0.77884	GGC|ATG		0.338	COQ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412616.1			18	26	0	0	0	1	0	18	26					A	74429684	G	A	74429684	3	1	442	1	0	0	0	0	1	0	0	0	3749	1348	47	2	1435	2	COQ6	14	74429684	Missense_Mutation	SNP	G	TCGA-FY-A40L-01A-11D-A23M-08		74429684	32919856	17	9038											
DDX28	55794	broad.mit.edu	37	chr16	68055898	68055898	+	Frame_Shift_Del	DEL	A	A	-													cagtgctggagctattacagAacaccagaacagttcctgag							TCGA-FY-A40L-01A-11D-A23M-08	TCGA-FY-A40L-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	382b11e1-7464-4ff6-948b-c377540e1023	4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0	g.chr16:68055898delA	ENST00000332395.5	-	1	1872	c.1208delT	c.(1207-1209)ttcfs	p.F403fs	DUS2_ENST00000565263.1_5'Flank|DUS2_ENST00000358896.6_5'Flank|DUS2_ENST00000432752.1_5'Flank	NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	403	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		GCTATTACAGAACACCAGAAC	0.517																																						ENST00000332395.5																			0				central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(1207-1209)tcfs		DEAD (Asp-Glu-Ala-Asp) box polypeptide 28							117	101	106					16																	68055898		2198	4300	6498	SO:0001589	frameshift_variant	55794					mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr16:68055898delA	AF329821	CCDS10858.1	16q22.1-q22.3	2008-02-05	2003-06-13		ENSG00000182810	ENSG00000182810		"DEAD-boxes"	17330	protein-coding gene	gene with protein product		607618	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 28"			10493829, 11350955	Standard	NM_018380		Approved	MDDX28, FLJ11282	uc002evh.2	Q9NUL7	OTTHUMG00000137549	ENST00000332395.5:c.1208delT	16.37:g.68055898delA	ENSP00000332340:p.Phe403fs						p.F403fs	NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)	1	1872	-		Ovarian(137;0.0563)	403			Helicase C-terminal.			Frame_Shift_Del	DEL	ENST00000332395.5	37	c.1208delT	CCDS10858.1																																																																																				0.517	DDX28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268883.1	NM_018380		52	82						52	82	---	---	---	---	-	68055898	A	-	68055898	7	5	442	1	0	1	0	1	0	0	0	0	4355	246	9	0	418	0	DDX28	16	68055898	Frame_Shift_Del	DEL	A	TCGA-FY-A40L-01A-11D-A23M-08		68055898	22298855	18	9039											
POTEC	388468	broad.mit.edu	37	chr18	14542734	14542734	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtggagcttgtccagatcttCtcgacggacgtggtacctcg	13	11	2	1			TCGA-FY-A40L-01A-11D-A23M-08	TCGA-FY-A40L-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	382b11e1-7464-4ff6-948b-c377540e1023	4d8e07aa-04c1-4f2c-a849-1ffe44f3fdb0	g.chr18:14542734C>T	ENST00000358970.5	-	1	411	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	138										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TCCAGATCTTCTCGACGGACG	0.602																																						ENST00000358970.5																			0				NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(412-414)Gaa>Aaa		POTE ankyrin domain family, member C							54	63	60					18																	14542734		692	1588	2280	SO:0001583	missense	388468							g.chr18:14542734C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33894	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 6"		"ANKRD26-like family B, member 2"	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.412G>A	18.37:g.14542734C>T	ENSP00000351856:p.Glu138Lys					POTEC_ENST00000389891.4_5'UTR	p.E138K	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			1	411	-			138						Missense_Mutation	SNP	ENST00000358970.5	37	c.412G>A	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	C	9.522	1.108559	0.20714	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.52754	0.65	1.03	-2.06	0.07298	Ankyrin repeat-containing domain (2);	.	.	.	.	T	0.45094	0.1325	L	0.43152	1.355	0.09310	N	1	D	0.71674	0.998	D	0.75484	0.986	T	0.41805	-0.9488	9	0.02654	T	1	.	2.1942	0.03906	0.0:0.2645:0.319:0.4164	.	138	B2RU33	POTEC_HUMAN	K	138	ENSP00000351856:E138K	ENSP00000351856:E138K	E	-	1	0	POTEC	14532734	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.188000	0.09642	-0.870000	0.04047	0.197000	0.17608	GAA		0.602	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		86	175	0	0	0	1	0	86	175					T	14542734	C	T	14542734	3	4	442	1	0	0	0	0	1	0	0	0	12262	922	32	2	1260	2	POTEC	18	14542734	Missense_Mutation	SNP	C	TCGA-FY-A40L-01A-11D-A23M-08		14542734	63534514	19	9040											
HMCN1	83872	broad.mit.edu	37	chr1	186136027	186136027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttatcgctgtgtggtccGttgtggaagtggctttcgaa	13	7	1	0	rs150494959	byFrequency	TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr1:186136027G>A	ENST00000271588.4	+	100	15756	c.15527G>A	c.(15526-15528)cGt>cAt	p.R5176H	HMCN1_ENST00000367492.2_Missense_Mutation_p.R5176H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5176	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.R5176H(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTGTGGTCCGTTGTGGAAGT	0.463													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		19991	0		0	False		,,,				2504	0					ENST00000271588.4																			1	Substitution - Missense(1)	p.R5176H(1)	kidney(1)	NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(15526-15528)cGt>cAt		hemicentin 1		G	HIS/ARG	9,4397	15.5+/-35.6	0,9,2194	225	192	203		15527	-10.8	0.0	1	dbSNP_134	203	2,8598	2.2+/-6.3	0,2,4298	yes	missense	HMCN1	NM_031935.2	29	0,11,6492	AA,AG,GG		0.0233,0.2043,0.0846	benign	5176/5636	186136027	11,12995	2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186136027G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.15527G>A	1.37:g.186136027G>A	ENSP00000271588:p.Arg5176His					HMCN1_ENST00000367492.2_Missense_Mutation_p.R5176H	p.R5176H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			100	15756	+			5176			EGF-like 2; calcium-binding (Potential).		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.15527G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	9.045	0.990593	0.18966	0.002043	2.33E-4	ENSG00000143341	ENST00000271588;ENST00000367492	D;D	0.87412	-2.25;-2.25	5.39	-10.8	0.00216	EGF-like calcium-binding (2);	0.402712	0.27764	N	0.017956	T	0.72716	0.3495	L	0.33093	0.98	0.09310	N	0.999995	B	0.13594	0.008	B	0.10450	0.005	T	0.48091	-0.9065	10	0.19147	T	0.46	.	13.2854	0.60241	0.657:0.0807:0.2623:0.0	.	5176	Q96RW7	HMCN1_HUMAN	H	5176	ENSP00000271588:R5176H;ENSP00000356462:R5176H	ENSP00000271588:R5176H	R	+	2	0	HMCN1	184402650	0.003000	0.15002	0.000000	0.03702	0.444000	0.32077	0.271000	0.18626	-2.778000	0.00362	-1.170000	0.01741	CGT		0.463	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		26	24	0	0	0	1	0	26	24					A	186136027	G	A	186136027	3	1	443	1	0	0	0	0	1	0	0	0	7220	1145	40	1	15925	1	HMCN1	1	186136027	Missense_Mutation	SNP	G	TCGA-FY-A40M-01A-11D-A23M-08		186136027	63114594	1	9041											
LTBP1	4052	broad.mit.edu	37	chr2	33585808	33585808	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atcaggcgtgggatggggagAtaactgcgaaatcttcccct	13	9	2	1			TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr2:33585808A>T	ENST00000404816.2	+	27	4498	c.4145A>T	c.(4144-4146)gAt>gTt	p.D1382V	LTBP1_ENST00000407925.1_Missense_Mutation_p.D1056V|LTBP1_ENST00000272273.5_Missense_Mutation_p.D280V|LTBP1_ENST00000354476.3_Missense_Mutation_p.D1383V|LTBP1_ENST00000418533.2_Missense_Mutation_p.D1014V|LTBP1_ENST00000404525.1_Missense_Mutation_p.D1003V|LTBP1_ENST00000390003.4_Missense_Mutation_p.D1057V|LTBP1_ENST00000402934.1_Missense_Mutation_p.D1001V			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1382	TB 3.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GGATGGGGAGATAACTGCGAA	0.502																																						ENST00000404816.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(4144-4146)gAt>gTt		latent transforming growth factor beta binding protein 1							112	101	105					2																	33585808		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33585808A>T		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"Latent transforming growth factor, beta binding proteins"	6714	protein-coding gene	gene with protein product	"TGF-beta1-BP-1"	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.4145A>T	2.37:g.33585808A>T	ENSP00000386043:p.Asp1382Val					LTBP1_ENST00000272273.5_Missense_Mutation_p.D280V|LTBP1_ENST00000390003.4_Missense_Mutation_p.D1057V|LTBP1_ENST00000418533.2_Missense_Mutation_p.D1014V|LTBP1_ENST00000354476.3_Missense_Mutation_p.D1383V|LTBP1_ENST00000402934.1_Missense_Mutation_p.D1001V|LTBP1_ENST00000404525.1_Missense_Mutation_p.D1003V|LTBP1_ENST00000407925.1_Missense_Mutation_p.D1056V	p.D1382V			Q14766	LTBP1_HUMAN			27	4498	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1382			TB 3.		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.4145A>T	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	A	17.91	3.504104	0.64410	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273;ENST00000422669	D;D;D;D;D;D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1	5.07	5.07	0.68467	Matrix fibril-associated (3);TGF-beta binding (1);	.	.	.	.	D	0.96081	0.8723	M	0.83483	2.645	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;0.999;0.988;0.999;0.999;1.0	D	0.96662	0.9490	9	0.72032	D	0.01	.	15.135	0.72558	1.0:0.0:0.0:0.0	.	280;1382;1014;1003;1056;1057;1383	E7EUU6;Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	.;LTBP1_HUMAN;.;.;.;.;.	V	1382;1383;1057;1014;1001;1003;1056;280;218	ENSP00000386043:D1382V;ENSP00000346467:D1383V;ENSP00000374653:D1057V;ENSP00000393057:D1014V;ENSP00000384373:D1001V;ENSP00000385359:D1003V;ENSP00000384091:D1056V;ENSP00000272273:D280V;ENSP00000395211:D218V	ENSP00000272273:D280V	D	+	2	0	LTBP1	33439312	1.000000	0.71417	0.510000	0.27712	0.309000	0.27889	9.221000	0.95188	2.020000	0.59435	0.460000	0.39030	GAT		0.502	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		31	39	0	0	0	1	0	31	39					T	33585808	A	T	33585808	3	4	443	1	0	0	0	0	1	0	0	0	9073	333	12	5	4306	5	LTBP1	2	33585808	Missense_Mutation	SNP	A	TCGA-FY-A40M-01A-11D-A23M-08		33585808	209613565	2	9042											
ABCA12	26154	broad.mit.edu	37	chr2	215845310	215845310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgctccaggaaggcgatgCggtcactcagcacttcagcc	11	15	3	0			TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr2:215845310C>T	ENST00000272895.7	-	31	4856	c.4637G>A	c.(4636-4638)cGc>cAc	p.R1546H	ABCA12_ENST00000389661.4_Missense_Mutation_p.R1228H	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1546	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.		R -> C (in dbSNP:rs13401480).		cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.R1546H(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAAGGCGATGCGGTCACTCAG	0.512																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			1	Substitution - Missense(1)	p.R1546H(1)	large_intestine(1)	NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(4636-4638)cGc>cAc		ATP-binding cassette, sub-family A (ABC1), member 12							131	118	122					2																	215845310		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215845310C>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.4637G>A	2.37:g.215845310C>T	ENSP00000272895:p.Arg1546His					ABCA12_ENST00000389661.4_Missense_Mutation_p.R1228H	p.R1546H	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	31	4856	-		Renal(323;0.127)	1546		R -> C (in dbSNP:rs13401480).	ABC transporter 1.		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.4637G>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	35	5.529593	0.96446	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	T;T	0.79247	-1.25;-1.25	5.95	5.95	0.96441	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.64402	D	0.000004	D	0.88647	0.6493	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.91635	0.999;0.761	D	0.87648	0.2526	10	0.52906	T	0.07	.	20.4024	0.99000	0.0:1.0:0.0:0.0	.	1546;1228	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	H	1546;1228	ENSP00000272895:R1546H;ENSP00000374312:R1228H	ENSP00000272895:R1546H	R	-	2	0	ABCA12	215553555	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.827000	0.97445	0.650000	0.86243	CGC		0.512	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		4	60	0	0	0	1	0	4	60					T	215845310	C	T	215845310	3	4	443	1	0	0	0	0	1	0	0	0	30	768	27	1	3242	1	ABCA12	2	215845310	Missense_Mutation	SNP	C	TCGA-FY-A40M-01A-11D-A23M-08	182259502	215845310	27354063	3	9043											
ZNF385D	79750	broad.mit.edu	37	chr3	21462850	21462850	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagggggaactcactgccacTgctgctgcggctgctgcagc	14	13	1	0			TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr3:21462850T>A	ENST00000281523.2	-	8	1562	c.1044A>T	c.(1042-1044)gcA>gcT	p.A348A		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	348	Poly-Ala.					nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TCActgccactgctgctgcgg	0.542																																						ENST00000281523.2																			0				NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						c.(1042-1044)gcA>gcT		zinc finger protein 385D							37	40	39					3																	21462850		2203	4300	6503	SO:0001819	synonymous_variant	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21462850T>A	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"zinc finger protein 659"	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.1044A>T	3.37:g.21462850T>A							p.A348A	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN			8	1562	-			348			Poly-Ala.			Silent	SNP	ENST00000281523.2	37	c.1044A>T	CCDS2636.1																																																																																				0.542	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		11	17	0	0	0	1	0	11	17					A	21462850	T	A	21462850	2	1	443	1	0	0	0	0	0	0	0	1	17875	1567	55	5		5	ZNF385D	3	21462850	Silent	SNP	T	TCGA-FY-A40M-01A-11D-A23M-08		21462850	176559580	4	9044											
COL8A1	1295	broad.mit.edu	37	chr3	99514780	99514780	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcaacgtgtgggttgctctaTtcaagaacaacgagcccgtg	12	10	2	1			TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr3:99514780T>A	ENST00000261037.3	+	5	2415	c.2035T>A	c.(2035-2037)Ttc>Atc	p.F679I	COL8A1_ENST00000273342.4_Missense_Mutation_p.F679I	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	679	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Nonhelical region (NC1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGTTGCTCTATTCAAGAACAA	0.557																																						ENST00000261037.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						c.(2035-2037)Ttc>Atc		collagen, type VIII, alpha 1							92	85	87					3																	99514780		2203	4300	6503	SO:0001583	missense	1295				angiogenesis|cell adhesion	basement membrane|collagen type VIII		g.chr3:99514780T>A	AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"Collagens"	2215	protein-coding gene	gene with protein product		120251	"chromosome 3 open reading frame 7"	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.2035T>A	3.37:g.99514780T>A	ENSP00000261037:p.Phe679Ile					COL8A1_ENST00000273342.4_Missense_Mutation_p.F679I	p.F679I	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN			5	2415	+			679			C1q.|Nonhelical region (NC1).		D3DN42|Q53XI6|Q96D07	Missense_Mutation	SNP	ENST00000261037.3	37	c.2035T>A	CCDS2934.1	.	.	.	.	.	.	.	.	.	.	T	16.23	3.064235	0.55432	.	.	ENSG00000144810	ENST00000261037;ENST00000273342	T;T	0.74632	-0.86;-0.86	6.08	6.08	0.98989	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.144057	0.64402	D	0.000006	T	0.72614	0.3482	L	0.39245	1.2	0.42564	D	0.993152	D;D	0.55385	0.971;0.971	P;P	0.47981	0.563;0.563	T	0.76345	-0.2993	10	0.66056	D	0.02	.	14.6032	0.68456	0.0:0.0:0.0:1.0	.	680;679	E7EPK9;P27658	.;CO8A1_HUMAN	I	679	ENSP00000261037:F679I;ENSP00000273342:F679I	ENSP00000261037:F679I	F	+	1	0	COL8A1	100997470	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.071000	0.64382	2.333000	0.79357	0.482000	0.46254	TTC		0.557	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309001.1	NM_001850		28	34	0	0	0	1	0	28	34					A	99514780	T	A	99514780	3	1	443	1	0	0	0	0	1	0	0	0	3705	1493	52	5	2041	5	COL8A1	3	99514780	Missense_Mutation	SNP	T	TCGA-FY-A40M-01A-11D-A23M-08	78051930	99514780	98507650	5	9045											
DVL3	1857	broad.mit.edu	37	chr3	183884441	183884441	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggacccaagtccacgtgGttgcttcacattgcccagga	11	13	1	0			TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr3:183884441G>A	ENST00000313143.3	+	10	1276	c.1028G>A	c.(1027-1029)gGt>gAt	p.G343D	EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Missense_Mutation_p.G343D	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	343					canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			AGTCCACGTGGTTGCTTCACA	0.527																																						ENST00000313143.3																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35						c.(1027-1029)gGt>gAt		dishevelled segment polarity protein 3							124	110	115					3																	183884441		2203	4300	6503	SO:0001583	missense	1857				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	g.chr3:183884441G>A	D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"Dishevelled homologs"	3087	protein-coding gene	gene with protein product		601368	"dishevelled 3 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 3 (Drosophila)"			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.1028G>A	3.37:g.183884441G>A	ENSP00000316054:p.Gly343Asp					DVL3_ENST00000431765.1_Missense_Mutation_p.G343D|EIF2B5_ENST00000444495.1_Intron	p.G343D	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)		10	1276	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		343					B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Missense_Mutation	SNP	ENST00000313143.3	37	c.1028G>A	CCDS3253.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093180	0.76756	.	.	ENSG00000161202	ENST00000313143;ENST00000415612;ENST00000431765	T;T	0.04156	3.7;3.69	5.97	5.97	0.96955	PDZ/DHR/GLGF (1);	0.087842	0.85682	D	0.000000	T	0.20292	0.0488	M	0.82323	2.585	0.58432	D	0.999998	P;D;P;D	0.60160	0.94;0.965;0.562;0.987	P;P;P;P	0.60173	0.694;0.806;0.544;0.87	T	0.00032	-1.2278	10	0.72032	D	0.01	-20.3823	13.6104	0.62074	0.0704:0.0:0.9296:0.0	.	343;175;343;343	B4E3E5;Q9UG07;F5GWR8;Q92997	.;.;.;DVL3_HUMAN	D	343	ENSP00000316054:G343D;ENSP00000405885:G343D	ENSP00000316054:G343D	G	+	2	0	DVL3	185367135	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.810000	0.75216	2.836000	0.97738	0.655000	0.94253	GGT		0.527	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	NM_004423		11	12	0	0	0	1	0	11	12					A	183884441	G	A	183884441	3	1	443	1	0	0	0	0	1	0	0	0	4837	1261	44	2	1066	2	DVL3	3	183884441	Missense_Mutation	SNP	G	TCGA-FY-A40M-01A-11D-A23M-08	84369661	183884441	14137989	6	9046											
KIT	3815	broad.mit.edu	37	chr4	55604659	55604659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggtagaccattctgtgcGgatcaattctgtcggcagca	12	10	3	1	rs139694927		TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr4:55604659G>A	ENST00000288135.5	+	21	2964	c.2867G>A	c.(2866-2868)cGg>cAg	p.R956Q		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	956					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R956Q(1)|p.R956L(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CATTCTGTGCGGATCAATTCT	0.532		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													ENST00000288135.5		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"Mis, O"	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"L, M, O, E"		"GIST, epithelioma"	"GIST, AML, TGCT, mastocytosis, mucosal melanoma"		2	Substitution - Missense(2)	p.R956Q(1)|p.R956L(1)	ovary(1)|lung(1)	NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(2866-2868)cGg>cAg		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	133	128	130		2867,2855	5.7	1.0	4	dbSNP_134	130	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KIT	NM_000222.2,NM_001093772.1	43,43	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	956/977,952/973	55604659	2,13004	2203	4300	6503	SO:0001583	missense	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55604659G>A	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2867G>A	4.37:g.55604659G>A	ENSP00000288135:p.Arg956Gln						p.R956Q	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	21	2964	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		956					B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.2867G>A	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486931	0.84854	2.27E-4	1.16E-4	ENSG00000157404	ENST00000288135;ENST00000412167	T;T	0.77098	-1.07;-1.07	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000015	D	0.87712	0.6246	M	0.70275	2.135	0.58432	D	0.999993	D;D	0.89917	0.993;1.0	P;D	0.85130	0.836;0.997	D	0.88115	0.2828	10	0.66056	D	0.02	.	17.6745	0.88226	0.0:0.0:1.0:0.0	.	952;956	P10721-2;P10721	.;KIT_HUMAN	Q	956;952	ENSP00000288135:R956Q;ENSP00000390987:R952Q	ENSP00000288135:R956Q	R	+	2	0	KIT	55299416	1.000000	0.71417	0.995000	0.50966	0.202000	0.24057	8.247000	0.89830	2.706000	0.92434	0.561000	0.74099	CGG		0.532	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			8	94	0	0	0	1	0	8	94					A	55604659	G	A	55604659	3	1	443	1	0	0	0	0	1	0	0	0	8329	1116	39	1	2949	1	KIT	4	55604659	Missense_Mutation	SNP	G	TCGA-FY-A40M-01A-11D-A23M-08		55604659	135549617	7	9047											
ANKH	56172	broad.mit.edu	37	chr5	14769190	14769190	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacaccaggcccacatttttGaagtcactcatgggacccgt	8	13	2	1			TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr5:14769190G>A	ENST00000284268.6	-	2	537	c.207C>T	c.(205-207)ttC>ttT	p.F69F		NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	69					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CCACATTTTTGAAGTCACTCA	0.567																																						ENST00000284268.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(205-207)ttC>ttT		ANKH inorganic pyrophosphate transport regulator							76	70	72					5																	14769190		2203	4300	6503	SO:0001819	synonymous_variant	56172				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	g.chr5:14769190G>A	AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"ankylosis, progressive (mouse) homolog", "craniometaphyseal dysplasia, Jackson type (dominant)", "ankylosis, progressive homolog (mouse)"	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.207C>T	5.37:g.14769190G>A							p.F69F	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN			2	537	-			69					B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Silent	SNP	ENST00000284268.6	37	c.207C>T	CCDS3885.1																																																																																				0.567	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	NM_054027		22	16	0	0	0	1	0	22	16					A	14769190	G	A	14769190	2	1	443	1	0	0	0	0	0	0	0	1	627	1281	45	2		2	ANKH	5	14769190	Silent	SNP	G	TCGA-FY-A40M-01A-11D-A23M-08		14769190	166146070	8	9048											
NUP155	9631	broad.mit.edu	37	chr5	37352892	37352892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttactatgtctacaggggtcGccaaaaccaggaggtgtcgc	12	10	1	0	rs371884662		TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr5:37352892G>A	ENST00000231498.3	-	5	706	c.503C>T	c.(502-504)gCg>gTg	p.A168V	NUP155_ENST00000513532.1_Missense_Mutation_p.A168V|NUP155_ENST00000381843.2_Missense_Mutation_p.A109V	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	168					atrial cardiac muscle cell action potential (GO:0086014)|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 export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TACAGGGGTCGCCAAAACCAG	0.403																																						ENST00000231498.3																			0				endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62						c.(502-504)gCg>gTg		nucleoporin 155kDa		G	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	86	83	84		326,503	5.7	1.0	5		84	0,8600		0,0,4300	no	missense,missense	NUP155	NM_004298.2,NM_153485.1	64,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	109/1333,168/1392	37352892	1,13005	2203	4300	6503	SO:0001583	missense	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37352892G>A	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"nucleoporin 155kD"			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.503C>T	5.37:g.37352892G>A	ENSP00000231498:p.Ala168Val					NUP155_ENST00000381843.2_Missense_Mutation_p.A109V|NUP155_ENST00000513532.1_Missense_Mutation_p.A168V	p.A168V	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		5	706	-	all_lung(31;0.000137)		168					Q9UBE9|Q9UFL5	Missense_Mutation	SNP	ENST00000231498.3	37	c.503C>T	CCDS3921.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.625434	0.66901	2.27E-4	0.0	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	T;T;T	0.50813	0.73;0.73;0.73	5.72	5.72	0.89469	Nucleoporin, Nup133/Nup155-like, N-terminal (1);	0.047232	0.85682	D	0.000000	T	0.56455	0.1986	M	0.74881	2.28	0.58432	D	0.999999	B;P	0.39352	0.329;0.669	B;B	0.42343	0.122;0.384	T	0.60146	-0.7320	10	0.56958	D	0.05	.	18.0744	0.89423	0.0:0.0:1.0:0.0	.	168;168	E9PF10;O75694	.;NU155_HUMAN	V	168;109;130;168	ENSP00000231498:A168V;ENSP00000371265:A109V;ENSP00000422019:A168V	ENSP00000231498:A168V	A	-	2	0	NUP155	37388649	1.000000	0.71417	1.000000	0.80357	0.328000	0.28507	7.905000	0.87416	2.703000	0.92315	0.460000	0.39030	GCG		0.403	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		3	43	0	0	0	1	0	3	43					A	37352892	G	A	37352892	3	1	443	1	0	0	0	0	1	0	0	0	10756	1087	38	1	3796	1	NUP155	5	37352892	Missense_Mutation	SNP	G	TCGA-FY-A40M-01A-11D-A23M-08	22583702	37352892	143562368	9	9049											
HINT1	3094	broad.mit.edu	37	chr5	130495259	130495259	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ataacccttattcaggcccaGatcagcagcacatttcttgc	6	13	3	1			TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr5:130495259G>C	ENST00000304043.5	-	3	541	c.262C>G	c.(262-264)Ctg>Gtg	p.L88V	HINT1_ENST00000506207.1_5'UTR	NM_005340.6	NP_005331.1	P49773	HINT1_HUMAN	histidine triad nucleotide binding protein 1	88	HIT. {ECO:0000255|PROSITE- ProRule:PRU00464}.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|purine ribonucleotide catabolic process (GO:0009154)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|nucleotide binding (GO:0000166)|protein kinase C binding (GO:0005080)			endometrium(1)|large_intestine(1)|lung(3)	5		all_cancers(142;0.0452)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Adenosine monophosphate(DB00131)	TTCAGGCCCAGATCAGCAGCA	0.423																																						ENST00000304043.5																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(262-264)Ctg>Gtg		histidine triad nucleotide binding protein 1	Adenosine monophosphate(DB00131)						158	124	135					5																	130495259		2203	4300	6503	SO:0001583	missense	3094				signal transduction	cytoplasm|cytoskeleton|nucleus	hydrolase activity|protein kinase C binding	g.chr5:130495259G>C	BC007090	CCDS4147.1	5q31.2	2010-03-30	2001-11-28	2002-03-08	ENSG00000169567	ENSG00000169567			4912	protein-coding gene	gene with protein product		601314	"histidine triad nucleotide-binding protein"	PRKCNH1, HINT		8812426	Standard	NM_005340		Approved	PKCI-1	uc003kve.4	P49773	OTTHUMG00000128995	ENST00000304043.5:c.262C>G	5.37:g.130495259G>C	ENSP00000304229:p.Leu88Val					HINT1_ENST00000506207.1_5'UTR	p.L88V	NM_005340.6	NP_005331.1	P49773	HINT1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	541	-		all_cancers(142;0.0452)|Breast(839;0.198)	88			HIT.		Q9H5W8	Missense_Mutation	SNP	ENST00000304043.5	37	c.262C>G	CCDS4147.1	.	.	.	.	.	.	.	.	.	.	G	7.636	0.679827	0.14907	.	.	ENSG00000169567	ENST00000304043	D	0.91631	-2.88	3.76	3.76	0.43208	Histidine triad motif (1);Histidine triad-like motif (1);	0.153007	0.44902	D	0.000402	D	0.84629	0.5514	L	0.38838	1.175	0.80722	D	1	B	0.06786	0.001	B	0.12156	0.007	T	0.76173	-0.3056	10	0.15499	T	0.54	-10.2193	7.3688	0.26790	0.1153:0.0:0.8847:0.0	.	88	P49773	HINT1_HUMAN	V	88	ENSP00000304229:L88V	ENSP00000304229:L88V	L	-	1	2	HINT1	130523158	0.961000	0.32948	0.999000	0.59377	0.916000	0.54674	1.786000	0.38694	2.392000	0.81423	0.484000	0.47621	CTG		0.423	HINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250984.1	NM_005340		29	47	0	0	0	1	0	29	47					C	130495259	G	C	130495259	3	2	443	1	0	0	0	0	1	0	0	0	7111	933	33	4	122	4	HINT1	5	130495259	Missense_Mutation	SNP	G	TCGA-FY-A40M-01A-11D-A23M-08	93142367	130495259	50420001	10	9050											
SLC22A23	63027	broad.mit.edu	37	chr6	3285329	3285329	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacctgagtctgggtgctgGctgtactttccaatcactgg	11	11	3	1			TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr6:3285329G>A	ENST00000406686.3	-	8	1562	c.1563C>T	c.(1561-1563)agC>agT	p.S521S	SLC22A23_ENST00000490273.1_Silent_p.S240S|SLC22A23_ENST00000436008.2_Silent_p.S521S|SLC22A23_ENST00000380302.4_Silent_p.S240S|PSMG4_ENST00000451246.2_Intron	NM_015482.1	NP_056297.1	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	521					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				CTGGGTGCTGGCTGTACTTTC	0.537																																						ENST00000436008.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14						c.(1561-1563)agC>agT		solute carrier family 22, member 23							72	55	61					6																	3285329		2203	4300	6503	SO:0001819	synonymous_variant	63027				ion transport	integral to membrane	transmembrane transporter activity	g.chr6:3285329G>A	AJ420525	CCDS34331.1, CCDS47363.1, CCDS75389.1	6p25.2	2013-05-22	2008-01-11	2008-01-11	ENSG00000137266	ENSG00000137266		"Solute carriers"	21106	protein-coding gene	gene with protein product		611697	"chromosome 6 open reading frame 85"	C6orf85		17714910	Standard	NM_015482		Approved	FLJ22174	uc003mvm.3	A1A5C7	OTTHUMG00000014144	ENST00000406686.3:c.1563C>T	6.37:g.3285329G>A						SLC22A23_ENST00000380302.4_Silent_p.S240S|SLC22A23_ENST00000490273.1_Silent_p.S240S|SLC22A23_ENST00000406686.3_Silent_p.S521S|PSMG4_ENST00000451246.2_Intron	p.S521S			A1A5C7	S22AN_HUMAN			8	2025	-	Ovarian(93;0.0493)	all_hematologic(90;0.0905)	521					A1A5C8|Q5T8B8|Q6ZMH3|Q8IW73	Silent	SNP	ENST00000406686.3	37	c.1563C>T	CCDS47363.1																																																																																				0.537	SLC22A23-006	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353059.1	NM_021945		9	11	0	0	0	1	0	9	11					A	3285329	G	A	3285329	2	1	443	1	0	0	0	0	0	0	0	1	14452	1194	42	2		2	SLC22A23	6	3285329	Silent	SNP	G	TCGA-FY-A40M-01A-11D-A23M-08		3285329	167829738	11	9051											
MET	4233	broad.mit.edu	37	chr7	116339286	116339286	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcccaacttcaccgcggaaAcacccatccagaatgtcatt	5	15	2	1			TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr7:116339286A>G	ENST00000318493.6	+	2	335	c.148A>G	c.(148-150)Aca>Gca	p.T50A	MET_ENST00000397752.3_Missense_Mutation_p.T50A|MET_ENST00000436117.2_Missense_Mutation_p.T50A			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CACCGCGGAAACACCCATCCA	0.438			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"papillary renal, head-neck squamous cell "		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(148-150)Aca>Gca		met proto-oncogene							103	101	102					7																	116339286		1965	4159	6124	SO:0001583	missense	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116339286A>G	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.148A>G	7.37:g.116339286A>G	ENSP00000317272:p.Thr50Ala					MET_ENST00000436117.2_Missense_Mutation_p.T50A|MET_ENST00000318493.6_Missense_Mutation_p.T50A	p.T50A	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		2	348	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	50			Sema.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.148A>G	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	A	13.95	2.390678	0.42410	.	.	ENSG00000105976	ENST00000437703;ENST00000456159;ENST00000397752;ENST00000318493;ENST00000436117	T;T;T;T	0.05319	3.46;3.46;3.46;3.46	5.9	5.9	0.94986	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.102804	0.64402	D	0.000004	T	0.25644	0.0624	M	0.78456	2.415	0.80722	D	1	P;D;D;D;D;D;D;D;D;D;D;D;D	0.76494	0.799;0.99;0.994;0.99;0.99;0.99;0.99;0.972;0.972;0.982;0.972;0.999;0.999	B;P;P;P;P;P;P;P;B;P;P;D;D	0.79784	0.097;0.804;0.842;0.844;0.844;0.804;0.844;0.688;0.412;0.793;0.625;0.993;0.993	T	0.01283	-1.1396	10	0.29301	T	0.29	-8.2448	16.3317	0.83023	1.0:0.0:0.0:0.0	.	50;50;50;50;50;50;50;50;50;50;50;50;50	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;B5A940;P08581-2;B5A942;P08581;A1L467	.;.;.;.;.;.;.;.;.;.;.;MET_HUMAN;.	A	69;69;50;50;50	ENSP00000413857:T69A;ENSP00000380860:T50A;ENSP00000317272:T50A;ENSP00000410980:T50A	ENSP00000317272:T50A	T	+	1	0	MET	116126522	1.000000	0.71417	0.780000	0.31762	0.856000	0.48823	4.429000	0.59901	2.264000	0.75181	0.533000	0.62120	ACA		0.438	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			3	59	0	0	0	1	0	3	59					G	116339286	A	G	116339286	3	3	443	1	0	0	0	0	1	0	0	0	9485	43	2	3	150	3	MET	7	116339286	Missense_Mutation	SNP	A	TCGA-FY-A40M-01A-11D-A23M-08		116339286	42799377	12	9052											
GALNTL5	168391	broad.mit.edu	37	chr7	151711750	151711750	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctggatgtgtggaggccaaCtctttataatcccctgctct	9	11	3	0			TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr7:151711750C>A	ENST00000392800.2	+	8	1302	c.1048C>A	c.(1048-1050)Ctc>Atc	p.L350I	GALNTL5_ENST00000431418.2_Missense_Mutation_p.L350I	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	350	Catalytic subdomain B.				spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		TGGAGGCCAACTCTTTATAAT	0.383																																						ENST00000392800.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32						c.(1048-1050)Ctc>Atc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5							140	126	130					7																	151711750		2203	4300	6503	SO:0001583	missense	168391					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr7:151711750C>A	AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"Glycosyltransferase family 2 domain containing"	21725	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase-like 5"	615133	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.1048C>A	7.37:g.151711750C>A	ENSP00000376548:p.Leu350Ile					GALNTL5_ENST00000431418.2_Missense_Mutation_p.L350I	p.L350I	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)	8	1302	+	all_neural(206;0.187)	all_hematologic(28;0.0749)	350			Catalytic subdomain B.		Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	ENST00000392800.2	37	c.1048C>A	CCDS5929.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.931263	0.52866	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.39229	1.09;1.09	3.73	2.84	0.33178	.	0.000000	0.33235	N	0.005121	T	0.50069	0.1594	L	0.48362	1.52	0.38003	D	0.934308	D;P	0.58970	0.984;0.94	P;B	0.61477	0.889;0.389	T	0.53968	-0.8363	10	0.56958	D	0.05	.	9.5748	0.39450	0.2101:0.7898:0.0:0.0	.	101;350	A8MZD3;Q7Z4T8	.;GLTL5_HUMAN	I	350	ENSP00000392582:L350I;ENSP00000376548:L350I	ENSP00000376548:L350I	L	+	1	0	GALNTL5	151342683	1.000000	0.71417	0.440000	0.26846	0.947000	0.59692	3.671000	0.54576	0.759000	0.33084	0.491000	0.48974	CTC		0.383	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	NM_145292		39	33	1	0	2.24893e-16	1	2.24893e-16	39	33					A	151711750	C	A	151711750	3	1	443	1	0	0	0	0	1	0	0	0	6224	565	20	4	1074	4	GALNTL5	7	151711750	Missense_Mutation	SNP	C	TCGA-FY-A40M-01A-11D-A23M-08	35372464	151711750	7426913	13	9053											
MNX1	3110	broad.mit.edu	37	chr7	156802527	156802529	+	In_Frame_Del	DEL	GCC	GCC	-													ggtgctggcccgccagcgcaGccgccgccgccgccgcggag							TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr7:156802527_156802529delGCC	ENST00000252971.6	-	1	816_818	c.516_518delGGC	c.(514-519)gcggct>gct	p.172_173AA>A	MNX1-AS1_ENST00000480284.1_RNA|MNX1_ENST00000469500.1_5'Flank|MNX1_ENST00000543409.1_5'Flank|MNX1-AS2_ENST00000429228.1_RNA	NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1	172	Poly-Ala.				anatomical structure morphogenesis (GO:0009653)|diaphragm development (GO:0060539)|dorsal/ventral neural tube patterning (GO:0021904)|endocrine pancreas development (GO:0031018)|humoral immune response (GO:0006959)|motor neuron axon guidance (GO:0008045)|nerve development (GO:0021675)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCCAGCGCAGCCGCCGCCGCCG	0.803																																						ENST00000252971.6																			0				endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7						c.(514-519)gct>gc		motor neuron and pancreas homeobox 1				5,233		1,3,115						-3.2	1.0			2	20,1110		4,12,549	no	coding	MNX1	NM_005515.3		5,15,664	A1A1,A1R,RR		1.7699,2.1008,1.8275				25,1343				SO:0001651	inframe_deletion	3110				humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:156802527_156802529delGCC	AF107457	CCDS34788.1, CCDS55187.1	7q36	2012-03-09	2007-08-09	2007-08-09	ENSG00000130675	ENSG00000130675		"Homeoboxes / ANTP class : HOXL subclass"	4979	protein-coding gene	gene with protein product		142994	"homeo box HB9", "homeobox HB9"	HLXB9		9843207	Standard	NM_001165255		Approved	HB9, HOXHB9, SCRA1	uc003wmz.4	P50219	OTTHUMG00000157181	ENST00000252971.6:c.516_518delGGC	7.37:g.156802536_156802538delGCC	ENSP00000252971:p.Ala174del						p.AA172del	NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	816_818	-	Ovarian(565;0.218)	all_hematologic(28;0.0592)	172			Poly-Ala.		F5H401|Q9Y648	In_Frame_Del	DEL	ENST00000252971.6	37	c.516_518delGGC	CCDS34788.1																																																																																				0.803	MNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347796.3			2	4						2	4	---	---	---	---	-	156802529	GCC	-	156802527	7	5	443	1	0	1	0	1	0	0	0	0	9679	971	34	0	758	0	MNX1	7	156802527	In_Frame_Del	DEL	GCC	TCGA-FY-A40M-01A-11D-A23M-08	5090777	156802527	2336136	14	9054											
BNC2	54796	broad.mit.edu	37	chr9	16727837	16727837	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggttagtatcagcgttttgCcatgtccccatgaaccctgg	10	11	1	1			TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr9:16727837C>T	ENST00000380672.4	-	3	345	c.288G>A	c.(286-288)tgG>tgA	p.W96*	BNC2_ENST00000380666.2_Nonsense_Mutation_p.W96*|RP11-62F24.2_ENST00000450445.1_RNA|BNC2_ENST00000380667.2_Intron|BNC2_ENST00000545497.1_Intron	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CAGCGTTTTGCCATGTCCCCA	0.403																																						ENST00000380672.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(286-288)tgG>tgA		basonuclin 2							257	235	243					9																	16727837		2203	4300	6503	SO:0001587	stop_gained	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16727837C>T	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"Zinc fingers, C2H2-type"	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.288G>A	9.37:g.16727837C>T	ENSP00000370047:p.Trp96*					BNC2_ENST00000380666.2_Nonsense_Mutation_p.W96*|BNC2_ENST00000545497.1_Intron|BNC2_ENST00000380667.2_Intron	p.W96*	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	3	345	-			96						Nonsense_Mutation	SNP	ENST00000380672.4	37	c.288G>A	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	37	6.055454	0.97241	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000456672;ENST00000436939;ENST00000380666;ENST00000540340	.	.	.	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.2991	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	96;53;96;96;96;96	.	ENSP00000370041:W96X	W	-	3	0	BNC2	16717837	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.266000	0.78452	2.941000	0.99782	0.655000	0.94253	TGG		0.403	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		4	155	0	0	0	1	0	4	155					T	16727837	C	T	16727837	4	4	443	1	0	0	0	0	0	1	0	0	1475	740	26	2	3031	2	BNC2	9	16727837	Nonsense_Mutation	SNP	C	TCGA-FY-A40M-01A-11D-A23M-08		16727837	124485594	15	9055											
MLLT3	4300	broad.mit.edu	37	chr9	20414313	20414313	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctactgctgctgctactGctgctgctgctgctgctgct	11	14	0	0			TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr9:20414313G>A	ENST00000380338.4	-	5	817	c.531C>T	c.(529-531)agC>agT	p.S177S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S174S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	177	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"			L	MLL		ALL		0				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(529-531)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							22	31	28					9																	20414313		2066	3973	6039	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414313G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.531C>T	9.37:g.20414313G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S174S|MLLT3_ENST00000475957.1_5'UTR	p.S177S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	817	-			177			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.531C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	62	0	0	0	1	0	4	62					A	20414313	G	A	20414313	2	1	443	1	0	0	0	0	0	0	0	1	9628	1310	46	2		2	MLLT3	9	20414313	Silent	SNP	G	TCGA-FY-A40M-01A-11D-A23M-08	3686476	20414313	120799118	16	9056											
USH1C	10083	broad.mit.edu	37	chr11	17542472	17542472	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcagtgatggttttaggcaaGagtagctgttcctttgagcc	13	7	0	3			TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr11:17542472G>A	ENST00000318024.4	-	14	1263	c.1155C>T	c.(1153-1155)ctC>ctT	p.L385L	USH1C_ENST00000005226.7_Silent_p.L385L|USH1C_ENST00000527720.1_Silent_p.L354L|USH1C_ENST00000527020.1_Silent_p.L366L	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	385					auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TTTTAGGCAAGAGTAGCTGTT	0.488																																						ENST00000005226.7																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						c.(1153-1155)ctC>ctT		Usher syndrome 1C (autosomal recessive, severe)							460	441	448					11																	17542472		2200	4293	6493	SO:0001819	synonymous_variant	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17542472G>A	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"harmonin"	605242	"deafness, autosomal recessive 18"	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1155C>T	11.37:g.17542472G>A						USH1C_ENST00000527720.1_Silent_p.L354L|USH1C_ENST00000527020.1_Silent_p.L366L|USH1C_ENST00000318024.4_Silent_p.L385L	p.L385L	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN			14	1154	-			385					A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Silent	SNP	ENST00000318024.4	37	c.1155C>T	CCDS31438.1																																																																																				0.488	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		200	268	0	0	0	1	0	200	268					A	17542472	G	A	17542472	2	1	443	1	0	0	0	0	0	0	0	1	17031	929	33	2		2	USH1C	11	17542472	Silent	SNP	G	TCGA-FY-A40M-01A-11D-A23M-08		17542472	117464044	17	9057											
HYDIN	54768	broad.mit.edu	37	chr16	71218819	71218819	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttcgatgatctgtggtcgGcacatcaaacgtgtttttgc	11	8	2	1			TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr16:71218819G>A	ENST00000393567.2	-	3	360	c.210C>T	c.(208-210)tgC>tgT	p.C70C	HYDIN_ENST00000448691.1_Silent_p.C70C|HYDIN_ENST00000448089.2_Silent_p.C70C|HYDIN_ENST00000538248.1_Silent_p.C97C|HYDIN_ENST00000393550.2_Silent_p.C70C|HYDIN_ENST00000541601.1_Silent_p.C87C|HYDIN_ENST00000288168.10_Silent_p.C87C|HYDIN_ENST00000321489.5_Silent_p.C70C	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	70					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)				TCTGTGGTCGGCACATCAAAC	0.458																																						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.(208-210)tgC>tgT		HYDIN, axonemal central pair apparatus protein							169	149	156					16																	71218819		2198	4299	6497	SO:0001819	synonymous_variant	54768							g.chr16:71218819G>A	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.210C>T	16.37:g.71218819G>A						HYDIN_ENST00000541601.1_Silent_p.C87C|HYDIN_ENST00000393550.2_Silent_p.C70C|HYDIN_ENST00000321489.5_Silent_p.C70C|HYDIN_ENST00000448691.1_Silent_p.C70C|HYDIN_ENST00000288168.10_Silent_p.C87C|HYDIN_ENST00000538248.1_Silent_p.C97C|HYDIN_ENST00000448089.2_Silent_p.C70C	p.C70C	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			3	360	-		Ovarian(137;0.0654)	70					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.210C>T	CCDS59269.1																																																																																				0.458	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			4	90	0	0	0	1	0	4	90					A	71218819	G	A	71218819	2	1	443	1	0	0	0	0	0	0	0	1	7467	1195	42	2		2	HYDIN	16	71218819	Silent	SNP	G	TCGA-FY-A40M-01A-11D-A23M-08		71218819	19135934	18	9058											
SMARCA4	6597	broad.mit.edu	37	chr19	11094890	11094890	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccttccccgggccctggCccttcccctggagccatgct	11	19	0	0			TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr19:11094890C>T	ENST00000429416.3	+	3	344	c.63C>T	c.(61-63)ggC>ggT	p.G21G	SMARCA4_ENST00000344626.4_Silent_p.G21G|SMARCA4_ENST00000444061.3_Silent_p.G21G|SMARCA4_ENST00000413806.3_Silent_p.G21G|SMARCA4_ENST00000590574.1_Silent_p.G21G|SMARCA4_ENST00000589677.1_Silent_p.G21G|SMARCA4_ENST00000450717.3_Silent_p.G21G|SMARCA4_ENST00000358026.2_Silent_p.G21G|SMARCA4_ENST00000541122.2_Silent_p.G21G	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	21	Necessary for interaction with SS18L1/CREST. {ECO:0000250}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|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 transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CGGGCCCTGGCCCTTCCCCTG	0.716			"F, N, Mis"		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"F, N, Mis"	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(61-63)ggC>ggT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							22	27	25					19																	11094890		2188	4285	6473	SO:0001819	synonymous_variant	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11094890C>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.63C>T	19.37:g.11094890C>T						SMARCA4_ENST00000413806.3_Silent_p.G21G|SMARCA4_ENST00000450717.3_Silent_p.G21G|SMARCA4_ENST00000590574.1_Silent_p.G21G|SMARCA4_ENST00000589677.1_Silent_p.G21G|SMARCA4_ENST00000344626.4_Silent_p.G21G|SMARCA4_ENST00000541122.2_Silent_p.G21G|SMARCA4_ENST00000444061.3_Silent_p.G21G|SMARCA4_ENST00000429416.3_Silent_p.G21G	p.G21G	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			2	347	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	21			Necessary for interaction with SS18L1/CREST (By similarity).		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	ENST00000429416.3	37	c.63C>T	CCDS12253.1																																																																																				0.716	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		12	32	0	0	0	1	0	12	32					T	11094890	C	T	11094890	2	4	443	1	0	0	0	0	0	0	0	1	14770	726	26	2		2	SMARCA4	19	11094890	Silent	SNP	C	TCGA-FY-A40M-01A-11D-A23M-08		11094890	48034093	19	9059											
SLITRK4	139065	broad.mit.edu	37	chrX	142717102	142717102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggcccaccaggaggacttCgaatgggacccaaaggagtg	14	11	0	0			TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chrX:142717102C>T	ENST00000381779.4	-	2	2048	c.1823G>A	c.(1822-1824)cGa>cAa	p.R608Q	SLITRK4_ENST00000356928.1_Missense_Mutation_p.R608Q|SLITRK4_ENST00000338017.4_Missense_Mutation_p.R608Q	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	608						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AGGAGGACTTCGAATGGGACC	0.418																																						ENST00000381779.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(1822-1824)cGa>cAa		SLIT and NTRK-like family, member 4							87	89	88					X																	142717102		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142717102C>T	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1823G>A	X.37:g.142717102C>T	ENSP00000371198:p.Arg608Gln					SLITRK4_ENST00000338017.4_Missense_Mutation_p.R608Q|SLITRK4_ENST00000356928.1_Missense_Mutation_p.R608Q	p.R608Q	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN			2	2048	-	Acute lymphoblastic leukemia(192;6.56e-05)		608					Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.1823G>A	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	C	7.023	0.559176	0.13436	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.51817	0.69;0.69;0.69	5.71	5.71	0.89125	.	0.065074	0.64402	U	0.000010	T	0.27454	0.0674	N	0.12182	0.205	0.40400	D	0.979634	B	0.24882	0.113	B	0.23716	0.048	T	0.18085	-1.0348	10	0.13108	T	0.6	-3.8326	10.8842	0.46957	0.0:0.9118:0.0:0.0882	.	608	Q8IW52	SLIK4_HUMAN	Q	608	ENSP00000371198:R608Q;ENSP00000349400:R608Q;ENSP00000336627:R608Q	ENSP00000336627:R608Q	R	-	2	0	SLITRK4	142544768	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.902000	0.56310	2.404000	0.81709	0.600000	0.82982	CGA		0.418	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		12	118	0	0	0	1	0	12	118					T	142717102	C	T	142717102	3	4	443	1	0	0	0	0	1	0	0	0	14745	884	31	1	694	1	SLITRK4	23	142717102	Missense_Mutation	SNP	C	TCGA-FY-A40M-01A-11D-A23M-08		142717102	12553458	20	9060											
SNRNP200	23020	broad.mit.edu	37	chr2	96950283	96950283	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaggagtaccaccttcttgTtgagcctgtcctggaacttc	9	12	2	1	rs560485569	byFrequency	TCGA-FY-A40N-01A-11D-A23M-08	TCGA-FY-A40N-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8beba9-a6ff-4e83-8ed6-e1ffc76cc9fc	b8313c2c-a5c7-404f-a9d1-0cf2355f0cfa	g.chr2:96950283T>C	ENST00000323853.5	-	31	4282	c.4205A>G	c.(4204-4206)aAc>aGc	p.N1402S	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1402	Helicase ATP-binding 2. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CACCTTCTTGTTGAGCCTGTC	0.527													T|||	8	0.00159744	0	0	5008	,	,		20196	0		0	False		,,,				2504	0.0082					ENST00000323853.5																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						c.(4204-4206)aAc>aGc		small nuclear ribonucleoprotein 200kDa (U5)							164	135	145					2																	96950283		2203	4300	6503	SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96950283T>C	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 200 KD"	601664	"activating signal cointegrator 1 complex subunit 3-like 1", "retinitis pigmentosa 33 (autosomal dominant)"	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.4205A>G	2.37:g.96950283T>C	ENSP00000317123:p.Asn1402Ser					SNRNP200_ENST00000349783.5_Intron	p.N1402S	NM_014014.4	NP_054733.2	O75643	U520_HUMAN			31	4282	-			1402			Helicase ATP-binding 2.		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.4205A>G	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	T	14.25	2.480158	0.44044	.	.	ENSG00000144028	ENST00000323853;ENST00000543553	T	0.36340	1.26	5.62	-1.2	0.09554	DEAD-like helicase (2);ATPase, AAA+ type, core (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.269700	0.41097	N	0.000946	T	0.24160	0.0585	L	0.40543	1.245	0.80722	D	1	B	0.09022	0.002	B	0.12156	0.007	T	0.02975	-1.1087	10	0.62326	D	0.03	-18.0298	6.2261	0.20708	0.1183:0.3779:0.0:0.5039	.	1402	O75643	U520_HUMAN	S	1402;36	ENSP00000317123:N1402S	ENSP00000317123:N1402S	N	-	2	0	SNRNP200	96314010	1.000000	0.71417	0.986000	0.45419	0.949000	0.60115	0.639000	0.24690	-0.434000	0.07275	-0.263000	0.10527	AAC		0.527	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		35	57	0	0	0	1	0	35	57					C	96950283	T	C	96950283	3	2	444	1	0	0	0	0	1	0	0	0	14852	1725	60	3	2265	3	SNRNP200	2	96950283	Missense_Mutation	SNP	T	TCGA-FY-A40N-01A-11D-A23M-08		96950283	146249090	1	9061											
GTF2E1	2960	broad.mit.edu	37	chr3	120489597	120489597	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actttccgctgtactttttgCcatacagaggtagaagagga	10	8	0	3			TCGA-FY-A40N-01A-11D-A23M-08	TCGA-FY-A40N-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8beba9-a6ff-4e83-8ed6-e1ffc76cc9fc	b8313c2c-a5c7-404f-a9d1-0cf2355f0cfa	g.chr3:120489597C>T	ENST00000283875.5	+	3	564	c.471C>T	c.(469-471)tgC>tgT	p.C157C		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	157					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		GTACTTTTTGCCATACAGAGG	0.418																																						ENST00000283875.5																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22						c.(469-471)tgC>tgT		general transcription factor IIE, polypeptide 1, alpha 56kDa							119	120	120					3																	120489597		2203	4300	6503	SO:0001819	synonymous_variant	2960				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding	g.chr3:120489597C>T	S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"General transcription factors"	4650	protein-coding gene	gene with protein product		189962	"general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.471C>T	3.37:g.120489597C>T							p.C157C	NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN		GBM - Glioblastoma multiforme(114;0.159)	3	564	+			157					Q16103	Silent	SNP	ENST00000283875.5	37	c.471C>T	CCDS3002.1																																																																																				0.418	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356770.1	NM_005513		4	128	0	0	0	1	0	4	128					T	120489597	C	T	120489597	2	4	444	1	0	0	0	0	0	0	0	1	6856	747	26	2		2	GTF2E1	3	120489597	Silent	SNP	C	TCGA-FY-A40N-01A-11D-A23M-08		120489597	77532833	2	9062											
CLCN2	1181	broad.mit.edu	37	chr3	184076767	184076767	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccccagttctcaccgcgGcatcgggcgcaacggctccg	11	19	1	0			TCGA-FY-A40N-01A-11D-A23M-08	TCGA-FY-A40N-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8beba9-a6ff-4e83-8ed6-e1ffc76cc9fc	b8313c2c-a5c7-404f-a9d1-0cf2355f0cfa	g.chr3:184076767G>A	ENST00000265593.4	-	2	387	c.216C>T	c.(214-216)tgC>tgT	p.C72C	CLCN2_ENST00000457512.1_Silent_p.C72C|POLR2H_ENST00000456318.1_5'Flank|EIF2B5_ENST00000444495.1_Intron|POLR2H_ENST00000438240.1_5'Flank|CLCN2_ENST00000434054.2_Silent_p.C72C|CLCN2_ENST00000344937.7_Silent_p.C72C|CLCN2_ENST00000475279.1_5'Flank|CLCN2_ENST00000423355.2_5'UTR	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	72					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	TCTCACCGCGGCATCGGGCGC	0.652																																						ENST00000265593.4																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(214-216)tgC>tgT		chloride channel, voltage-sensitive 2	Lubiprostone(DB01046)						41	47	45					3																	184076767		2203	4299	6502	SO:0001819	synonymous_variant	1181					chloride channel complex	voltage-gated chloride channel activity	g.chr3:184076767G>A	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"Ion channels / Chloride channels : Voltage-sensitive"	2020	protein-coding gene	gene with protein product		600570	"chloride channel 2"			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.216C>T	3.37:g.184076767G>A						CLCN2_ENST00000344937.7_Silent_p.C72C|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Silent_p.C72C|CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000457512.1_Silent_p.C72C	p.C72C	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		2	387	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		72					B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Silent	SNP	ENST00000265593.4	37	c.216C>T	CCDS3263.1																																																																																				0.652	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			4	95	0	0	0	1	0	4	95					A	184076767	G	A	184076767	2	1	444	1	0	0	0	0	0	0	0	1	3463	1195	42	2		2	CLCN2	3	184076767	Silent	SNP	G	TCGA-FY-A40N-01A-11D-A23M-08	63587170	184076767	13945663	3	9063											
NUPL2	11097	broad.mit.edu	37	chr7	23224892	23224892	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgcttcacttagtcctgatGagcagaaagatgaaaagaaa	9	6	1	6			TCGA-FY-A40N-01A-11D-A23M-08	TCGA-FY-A40N-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8beba9-a6ff-4e83-8ed6-e1ffc76cc9fc	b8313c2c-a5c7-404f-a9d1-0cf2355f0cfa	g.chr7:23224892G>A	ENST00000258742.5	+	2	584	c.325G>A	c.(325-327)Gag>Aag	p.E109K	NUPL2_ENST00000410002.3_Missense_Mutation_p.E109K|AC005082.1_ENST00000366347.4_Intron|NUPL2_ENST00000487595.1_3'UTR	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	109	Interaction with HIV-1 Vpr.				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 export from nucleus (GO:0006611)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TAGTCCTGATGAGCAGAAAGA	0.353																																						ENST00000258742.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(325-327)Gag>Aag		nucleoporin like 2							82	86	85					7																	23224892		2203	4300	6503	SO:0001583	missense	11097				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding	g.chr7:23224892G>A	U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243			17010	protein-coding gene	gene with protein product	"nucleoporin-like protein 1"					10358091, 9450185	Standard	NM_007342		Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000258742.5:c.325G>A	7.37:g.23224892G>A	ENSP00000258742:p.Glu109Lys					NUPL2_ENST00000410002.3_Missense_Mutation_p.E109K|AC005082.1_ENST00000366347.4_Intron|NUPL2_ENST00000487595.1_3'UTR	p.E109K	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN			2	584	+			109			Interaction with HIV-1 Vpr.		A4D143|B4DP42|Q49AE7|Q9BS49	Missense_Mutation	SNP	ENST00000258742.5	37	c.325G>A	CCDS5379.1	.	.	.	.	.	.	.	.	.	.	G	9.683	1.149729	0.21288	.	.	ENSG00000136243	ENST00000258742;ENST00000410002;ENST00000413919	T;T;T	0.41758	0.99;0.99;0.99	5.97	5.08	0.68730	.	0.951386	0.08868	N	0.881940	T	0.36220	0.0959	L	0.40543	1.245	0.25302	N	0.989275	B	0.22003	0.063	B	0.18561	0.022	T	0.18461	-1.0336	10	0.10636	T	0.68	-0.2654	15.2645	0.73651	0.069:0.0:0.931:0.0	.	109	O15504	NUPL2_HUMAN	K	109	ENSP00000258742:E109K;ENSP00000387330:E109K;ENSP00000401475:E109K	ENSP00000258742:E109K	E	+	1	0	NUPL2	23191417	0.821000	0.29204	0.332000	0.25469	0.372000	0.29890	3.168000	0.50801	2.832000	0.97577	0.585000	0.79938	GAG		0.353	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214017.2	NM_007342		4	83	0	0	0	1	0	4	83					A	23224892	G	A	23224892	3	1	444	1	0	0	0	0	1	0	0	0	10775	1291	45	2	331	2	NUPL2	7	23224892	Missense_Mutation	SNP	G	TCGA-FY-A40N-01A-11D-A23M-08		23224892	135913771	4	9064											
CUL1	8454	broad.mit.edu	37	chr7	148427233	148427233	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatgtcgtcaacccggagcCagaacccccacggcctgaag	10	16	1	2			TCGA-FY-A40N-01A-11D-A23M-08	TCGA-FY-A40N-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8beba9-a6ff-4e83-8ed6-e1ffc76cc9fc	b8313c2c-a5c7-404f-a9d1-0cf2355f0cfa	g.chr7:148427233C>T	ENST00000325222.4	+	2	298	c.19C>T	c.(19-21)Cag>Tag	p.Q7*	CUL1_ENST00000602748.1_Nonsense_Mutation_p.Q7*|AC005229.1_ENST00000578165.1_RNA|CUL1_ENST00000409469.1_Nonsense_Mutation_p.Q7*	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	7					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AACCCGGAGCCAGAACCCCCA	0.527																																						ENST00000325222.4																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40						c.(19-21)Cag>Tag		cullin 1							107	104	105					7																	148427233		2203	4300	6503	SO:0001587	stop_gained	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148427233C>T	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.19C>T	7.37:g.148427233C>T	ENSP00000326804:p.Gln7*					CUL1_ENST00000602748.1_Nonsense_Mutation_p.Q7*|CUL1_ENST00000409469.1_Nonsense_Mutation_p.Q7*	p.Q7*	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		2	298	+	Melanoma(164;0.15)		7					D3DWG3|O60719|Q08AL6|Q8IYW1	Nonsense_Mutation	SNP	ENST00000325222.4	37	c.19C>T	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	C	41	8.537347	0.98854	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000433865	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-3.7713	20.0155	0.97477	0.0:1.0:0.0:0.0	.	.	.	.	X	7	.	ENSP00000326804:Q7X	Q	+	1	0	CUL1	148058166	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.349000	0.79376	2.742000	0.94016	0.591000	0.81541	CAG		0.527	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		32	74	0	0	0	1	0	32	74					T	148427233	C	T	148427233	4	4	444	1	0	0	0	0	0	1	0	0	4054	595	21	2	21	2	CUL1	7	148427233	Nonsense_Mutation	SNP	C	TCGA-FY-A40N-01A-11D-A23M-08	125202341	148427233	10711430	5	9065			1	15		2	2	66	C		2.309646e-05
CUL1	8454	broad.mit.edu	37	chr7	148427298	148427298	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gacgacctcagagccggcatCcagcaggtgtacacacggca	12	14	1	1			TCGA-FY-A40N-01A-11D-A23M-08	TCGA-FY-A40N-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8beba9-a6ff-4e83-8ed6-e1ffc76cc9fc	b8313c2c-a5c7-404f-a9d1-0cf2355f0cfa	g.chr7:148427298C>G	ENST00000325222.4	+	2	363	c.84C>G	c.(82-84)atC>atG	p.I28M	CUL1_ENST00000602748.1_Missense_Mutation_p.I28M|AC005229.1_ENST00000578165.1_RNA|CUL1_ENST00000409469.1_Missense_Mutation_p.I28M	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	28					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GAGCCGGCATCCAGCAGGTGT	0.547																																						ENST00000325222.4																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40						c.(82-84)atC>atG		cullin 1							103	90	94					7																	148427298		2203	4300	6503	SO:0001583	missense	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148427298C>G	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.84C>G	7.37:g.148427298C>G	ENSP00000326804:p.Ile28Met					CUL1_ENST00000602748.1_Missense_Mutation_p.I28M|CUL1_ENST00000409469.1_Missense_Mutation_p.I28M	p.I28M	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		2	363	+	Melanoma(164;0.15)		28					D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	c.84C>G	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.681871	0.68042	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000433865	T;T	0.80033	-1.33;-1.33	5.79	1.87	0.25490	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.82084	0.4960	M	0.68593	2.085	0.80722	D	1	D	0.53745	0.962	P	0.55615	0.78	T	0.79065	-0.1956	10	0.62326	D	0.03	-25.454	5.4826	0.16731	0.1315:0.5367:0.0:0.3318	.	28	Q13616	CUL1_HUMAN	M	28	ENSP00000387160:I28M;ENSP00000326804:I28M	ENSP00000326804:I28M	I	+	3	3	CUL1	148058231	0.995000	0.38212	1.000000	0.80357	0.964000	0.63967	0.376000	0.20535	0.347000	0.23924	-1.083000	0.02208	ATC		0.547	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		29	67	0	0	0	1	0	29	67					G	148427298	C	G	148427298	3	3	444	1	0	0	0	0	1	0	0	0	4054	845	30	4	86	4	CUL1	7	148427298	Missense_Mutation	SNP	C	TCGA-FY-A40N-01A-11D-A23M-08	65	148427298	10711365	6	9066			1	15		2	2	66	C		2.309646e-05
TIMM23	100287932	broad.mit.edu	37	chr10	51623197	51623198	+	Frame_Shift_Ins	INS	-	-	C													ctgtggttttgttgccgcttINScccccgcctccttccatggt							TCGA-FY-A40N-01A-11D-A23M-08	TCGA-FY-A40N-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8beba9-a6ff-4e83-8ed6-e1ffc76cc9fc	b8313c2c-a5c7-404f-a9d1-0cf2355f0cfa	g.chr10:51623197_51623198insC	ENST00000260867.4	-	1	140_141	c.17_18insG	c.(16-18)ggafs	p.G6fs	TIMM23_ENST00000374064.3_Frame_Shift_Ins_p.G6fs|TIMM23_ENST00000374065.3_Frame_Shift_Ins_p.G6fs	NM_006327.3	NP_006318.1	O14925	TIM23_HUMAN	translocase of inner mitochondrial membrane 23 homolog (yeast)	6					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			endometrium(1)|large_intestine(1)|pancreas(1)	3						TGTTGCCGCTTCCCCCGCCTCC	0.634																																						ENST00000260867.4																			0				endometrium(1)|large_intestine(1)|pancreas(1)	3						c.(16-18)gagfs		translocase of inner mitochondrial membrane 23 homolog (yeast)																																				SO:0001589	frameshift_variant	100287932				protein targeting to mitochondrion	integral to membrane|mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding	g.chr10:51623197_51623198insC	AF030162	CCDS73091.1	10q11.21-q11.23	2010-03-17			ENSG00000138297				17312	protein-coding gene	gene with protein product		605034				10339406	Standard	NM_006327		Approved	TIM23	uc010qha.2	O14925	OTTHUMG00000018213	ENST00000260867.4:c.18dupG	10.37:g.51623202_51623202dupC	ENSP00000260867:p.Gly6fs					TIMM23_ENST00000374064.3_Frame_Shift_Ins_p.E6fs|TIMM23_ENST00000374065.3_Frame_Shift_Ins_p.E6fs	p.E6fs	NM_006327.3	NP_006318.1	O14925	TIM23_HUMAN			1	140_141	-			6					Q53FF8|Q5T1E6|Q6P5S5	Frame_Shift_Ins	INS	ENST00000260867.4	37	c.17_18insG	CCDS7238.1																																																																																				0.634	TIMM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048040.1	NM_006327.2		2	4						2	4	---	---	---	---	C	51623198	-	C	51623197	7	5	444	1	0	1	1	0	0	0	0	0	15908	1770	62	0	639	0	TIMM23	10	51623197	Frame_Shift_Ins	INS	-	TCGA-FY-A40N-01A-11D-A23M-08		51623197	83911550	7	9067											
GJA3	2700	broad.mit.edu	37	chr13	20716593	20716593	+	Frame_Shift_Del	DEL	G	G	-													cacggcgcgggcctgtcccaGgggcgcagcggtgtgcgcat							TCGA-FY-A40N-01A-11D-A23M-08	TCGA-FY-A40N-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8beba9-a6ff-4e83-8ed6-e1ffc76cc9fc	b8313c2c-a5c7-404f-a9d1-0cf2355f0cfa	g.chr13:20716593delG	ENST00000241125.3	-	2	1011	c.835delC	c.(835-837)ctgfs	p.L279fs		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	279					cell-cell signaling (GO:0007267)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		GCCTGTCCCAGGGGCGCAGCG	0.761																																						ENST00000241125.3																			0				NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						c.(835-837)tgfs		gap junction protein, alpha 3, 46kDa							5	6	6					13																	20716593		1987	3857	5844	SO:0001589	frameshift_variant	2700				cell-cell signaling|visual perception	connexon complex|integral to membrane		g.chr13:20716593delG	AF075290	CCDS9289.1	13q12.11	2008-02-05	2007-01-16		ENSG00000121743	ENSG00000121743		"Ion channels / Gap junction proteins (connexins)"	4277	protein-coding gene	gene with protein product	"connexin 46"	121015	"gap junction protein, alpha 3, 46kD (connexin 46)", "gap junction protein, alpha 3, 46kDa (connexin 46)"	CZP3		10205266, 7342922	Standard	NM_021954		Approved	CX46	uc001umx.1	Q9Y6H8	OTTHUMG00000016510	ENST00000241125.3:c.835delC	13.37:g.20716593delG	ENSP00000241125:p.Leu279fs						p.L279fs	NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)	2	1011	-		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)	279					Q0VAB7|Q9H537	Frame_Shift_Del	DEL	ENST00000241125.3	37	c.835delC	CCDS9289.1																																																																																				0.761	GJA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044059.3	NM_021954		2	4						2	4	---	---	---	---	-	20716593	G	-	20716593	7	5	444	1	0	1	0	1	0	0	0	0	6402	991	35	0	476	0	GJA3	13	20716593	Frame_Shift_Del	DEL	G	TCGA-FY-A40N-01A-11D-A23M-08		20716593	94453285	8	9068											
BCL11B	64919	broad.mit.edu	37	chr14	99641455	99641455	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgcccgggaccccgggcAccccaccaccgccgttctcg	11	23	1	0			TCGA-FY-A40N-01A-11D-A23M-08	TCGA-FY-A40N-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8beba9-a6ff-4e83-8ed6-e1ffc76cc9fc	b8313c2c-a5c7-404f-a9d1-0cf2355f0cfa	g.chr14:99641455A>C	ENST00000357195.3	-	4	1727	c.1718T>G	c.(1717-1719)gTg>gGg	p.V573G	BCL11B_ENST00000345514.2_Missense_Mutation_p.V502G|BCL11B_ENST00000443726.2_Missense_Mutation_p.V379G	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	573	Gly-rich.				alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	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 positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		gaccccgggcACCCCACCACC	0.711			T	TLX3	T-ALL																																	ENST00000345514.2				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(1504-1506)gTg>gGg		B-cell CLL/lymphoma 11B (zinc finger protein)							5	8	7					14																	99641455		2053	3959	6012	SO:0001583	missense	64919					nucleus	zinc ion binding	g.chr14:99641455A>C	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"Zinc fingers, C2H2-type"	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.1718T>G	14.37:g.99641455A>C	ENSP00000349723:p.Val573Gly					BCL11B_ENST00000357195.3_Missense_Mutation_p.V573G|BCL11B_ENST00000443726.2_Missense_Mutation_p.V379G	p.V502G	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	1771	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	573					Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	c.1505T>G	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	A	0.347	-0.946942	0.02304	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.11063	2.82;2.83;2.81	3.69	-1.74	0.08056	.	6.479460	0.00166	N	0.000002	T	0.04952	0.0133	N	0.08118	0	0.09310	N	1	B;B	0.31705	0.031;0.336	B;B	0.28232	0.007;0.087	T	0.18304	-1.0341	10	0.27082	T	0.32	.	2.2852	0.04124	0.5572:0.2104:0.0908:0.1416	.	502;573	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	G	573;502;379	ENSP00000349723:V573G;ENSP00000280435:V502G;ENSP00000387419:V379G	ENSP00000280435:V502G	V	-	2	0	BCL11B	98711208	0.238000	0.23825	0.021000	0.16686	0.430000	0.31655	0.922000	0.28734	-0.383000	0.07858	0.459000	0.35465	GTG		0.711	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		4	5	0	0	0	1	0	4	5					C	99641455	A	C	99641455	3	2	444	1	0	0	0	0	1	0	0	0	1364	159	6	5	970	5	BCL11B	14	99641455	Missense_Mutation	SNP	A	TCGA-FY-A40N-01A-11D-A23M-08		99641455	7708085	9	9069											
MAPKBP1	23005	broad.mit.edu	37	chr15	42115806	42115806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttccatggccaagatatccCgcagtatctctgttggggag	12	10	1	1	rs149990798		TCGA-FY-A40N-01A-11D-A23M-08	TCGA-FY-A40N-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8beba9-a6ff-4e83-8ed6-e1ffc76cc9fc	b8313c2c-a5c7-404f-a9d1-0cf2355f0cfa	g.chr15:42115806C>T	ENST00000456763.2	+	30	3974	c.3778C>T	c.(3778-3780)Cgc>Tgc	p.R1260C	MAPKBP1_ENST00000514566.1_Intron|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.R1254C|RP11-23P13.4_ENST00000512295.1_RNA|RP11-23P13.4_ENST00000510176.1_RNA|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R1137C|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.R1093C	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1260										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CAAGATATCCCGCAGTATCTC	0.627																																						ENST00000457542.2																			0				breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(3760-3762)Cgc>Tgc		mitogen-activated protein kinase binding protein 1		C	CYS/ARG,CYS/ARG	1,4405		0,1,2202	68	64	65		3778,3760	6.0	1.0	15	dbSNP_134	65	0,8600		0,0,4300	no	missense,missense	MAPKBP1	NM_001128608.1,NM_014994.2	180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	1260/1515,1254/1509	42115806	1,13005	2203	4300	6503	SO:0001583	missense	23005							g.chr15:42115806C>T	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"WD repeat domain containing"	29536	protein-coding gene	gene with protein product			"mitogen activated protein kinase binding protein 1"			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.3778C>T	15.37:g.42115806C>T	ENSP00000393099:p.Arg1260Cys					MAPKBP1_ENST00000456763.2_Missense_Mutation_p.R1260C|MAPKBP1_ENST00000514566.1_Intron|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.R1093C|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R1137C	p.R1254C	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	29	4046	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	1260					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.3760C>T	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	.	22.6	4.305773	0.81247	2.27E-4	0.0	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763	T;T;T;T	0.65549	0.16;0.16;-0.16;0.2	5.98	5.98	0.97165	.	0.054914	0.64402	D	0.000001	T	0.70657	0.3249	L	0.34521	1.04	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.998;0.993	T	0.72327	-0.4327	10	0.87932	D	0	-17.467	14.7177	0.69284	0.1454:0.8546:0.0:0.0	.	1093;1137;1093;1260;1254	F8WC21;O60336-3;B4DYK7;O60336;O60336-6	.;.;.;MABP1_HUMAN;.	C	1254;1137;1093;1260	ENSP00000397570:R1254C;ENSP00000221214:R1137C;ENSP00000260357:R1093C;ENSP00000393099:R1260C	ENSP00000221214:R1137C	R	+	1	0	MAPKBP1	39903098	1.000000	0.71417	0.974000	0.42286	0.860000	0.49131	5.375000	0.66173	2.837000	0.97791	0.591000	0.81541	CGC		0.627	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		29	30	0	0	0	1	0	29	30					T	42115806	C	T	42115806	3	4	444	1	0	0	0	0	1	0	0	0	9292	652	23	1	3892	1	MAPKBP1	15	42115806	Missense_Mutation	SNP	C	TCGA-FY-A40N-01A-11D-A23M-08		42115806	60415586	10	9070											
SRCAP	10847	broad.mit.edu	37	chr16	30735845	30735845	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcatctccatctcagacactCtctttgggaacggggaaccc	8	14	4	1			TCGA-FY-A40N-01A-11D-A23M-08	TCGA-FY-A40N-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8beba9-a6ff-4e83-8ed6-e1ffc76cc9fc	b8313c2c-a5c7-404f-a9d1-0cf2355f0cfa	g.chr16:30735845C>G	ENST00000262518.4	+	25	5485	c.5100C>G	c.(5098-5100)ctC>ctG	p.L1700L	SRCAP_ENST00000395059.2_Silent_p.L1638L|SRCAP_ENST00000344771.4_Silent_p.L1542L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1700	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTCAGACACTCTCTTTGGGAA	0.572																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(5098-5100)ctC>ctG		Snf2-related CREBBP activator protein							109	117	114					16																	30735845		2197	4300	6497	SO:0001819	synonymous_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30735845C>G	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.5100C>G	16.37:g.30735845C>G						SRCAP_ENST00000395059.2_Silent_p.L1638L|SRCAP_ENST00000344771.4_Silent_p.L1542L	p.L1700L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		25	5485	+			1700			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	c.5100C>G	CCDS10689.2																																																																																				0.572	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		4	164	0	0	0	1	0	4	164					G	30735845	C	G	30735845	2	3	444	1	0	0	0	0	0	0	0	1	15134	900	32	4		4	SRCAP	16	30735845	Silent	SNP	C	TCGA-FY-A40N-01A-11D-A23M-08		30735845	59618908	11	9071											
HPDL	84842	broad.mit.edu	37	chr1	45793454	45793454	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggtttgggcttgggggaCtgaggcttacagccctgcag	17	9	0	1			TCGA-FY-A4B0-01A-21D-A23U-08	TCGA-FY-A4B0-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c5369c0-0005-4ca1-b5c7-0f44174f556b	fadf7923-0df0-4bd1-bc7a-707eb8181477	g.chr1:45793454C>T	ENST00000334815.3	+	1	910	c.634C>T	c.(634-636)Ctg>Ttg	p.L212L		NM_032756.2	NP_116145.1	Q96IR7	HPDL_HUMAN	4-hydroxyphenylpyruvate dioxygenase-like	212					aromatic amino acid family metabolic process (GO:0009072)		4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(166;0.155)					GCTTGGGGGACTGAGGCTTAC	0.642																																						ENST00000334815.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(634-636)Ctg>Ttg		4-hydroxyphenylpyruvate dioxygenase-like							40	43	42					1																	45793454		2203	4299	6502	SO:0001819	synonymous_variant	84842				aromatic amino acid family metabolic process		4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding	g.chr1:45793454C>T	BC007293	CCDS519.1	1p34.1	2008-02-05	2007-03-14	2007-03-14	ENSG00000186603	ENSG00000186603			28242	protein-coding gene	gene with protein product			"glyoxalase domain containing 1"	GLOXD1		12477932	Standard	NM_032756		Approved	MGC15668, 4-HPPD-L	uc001cne.3	Q96IR7	OTTHUMG00000007681	ENST00000334815.3:c.634C>T	1.37:g.45793454C>T							p.L212L	NM_032756.2	NP_116145.1	Q96IR7	HPDL_HUMAN			1	910	+	Acute lymphoblastic leukemia(166;0.155)		212					B2R9B0	Silent	SNP	ENST00000334815.3	37	c.634C>T	CCDS519.1																																																																																				0.642	HPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020527.1	NM_032756		11	52	0	0	0	1	0	11	52					T	45793454	C	T	45793454	2	4	445	1	0	0	0	0	0	0	0	1	7333	564	20	2		2	HPDL	1	45793454	Silent	SNP	C	TCGA-FY-A4B0-01A-21D-A23U-08		45793454	203457167	1	9072											
KIAA0494	9813	broad.mit.edu	37	chr1	47182006	47182007	+	Frame_Shift_Ins	INS	-	-	AA													agggcatccagatcctccttINSgagagcaacctgcatccaca							TCGA-FY-A4B0-01A-21D-A23U-08	TCGA-FY-A4B0-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c5369c0-0005-4ca1-b5c7-0f44174f556b	fadf7923-0df0-4bd1-bc7a-707eb8181477	g.chr1:47182006_47182007insAA	ENST00000371933.3	-	2	1270_1271	c.294_295insTT	c.(292-297)ctcaagfs	p.K99fs	EFCAB14_ENST00000544071.1_Frame_Shift_Ins_p.K99fs	NM_014774.2	NP_055589.1	O75071	EFC14_HUMAN	EF-hand calcium binding domain 14	99							calcium ion binding (GO:0005509)										AGATCCTCCTTGAGAGCAACCT	0.421																																						ENST00000371933.3																			0											c.(292-297)ctaggafs		EF-hand calcium binding domain 14																																				SO:0001589	frameshift_variant	9813							g.chr1:47182006_47182007insAA	AB007963	CCDS30706.1	1p33	2013-01-10	2012-11-29	2012-11-29	ENSG00000159658	ENSG00000159658		"EF-hand domain containing"	29051	protein-coding gene	gene with protein product			"KIAA0494"	KIAA0494		9455484	Standard	NM_014774		Approved		uc001cqk.4	O75071	OTTHUMG00000007992	ENST00000371933.3:c.294_295insTT	1.37:g.47182006_47182007insAA	ENSP00000361001:p.Lys99fs					EFCAB14_ENST00000544071.1_Frame_Shift_Ins_p.G99fs	p.G99fs	NM_014774.2	NP_055589.1					2	1270_1271	-								D3DQ23|Q5SXB8	Frame_Shift_Ins	INS	ENST00000371933.3	37	c.294_295insTT	CCDS30706.1																																																																																				0.421	EFCAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021931.1	NM_014774		14	32						14	32	---	---	---	---	AA	47182007	-	AA	47182006	7	5	445	1	0	1	1	0	0	0	0	0	8179	1821	63	0	1232	0	KIAA0494	1	47182006	Frame_Shift_Ins	INS	-	TCGA-FY-A4B0-01A-21D-A23U-08	1388552	47182006	202068615	2	9073											
PELI1	57162	broad.mit.edu	37	chr2	64323615	64323615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtaaagggaggattccGttcacatatgattctgcagg	12	7	2	1			TCGA-FY-A4B0-01A-21D-A23U-08	TCGA-FY-A4B0-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c5369c0-0005-4ca1-b5c7-0f44174f556b	fadf7923-0df0-4bd1-bc7a-707eb8181477	g.chr2:64323615G>A	ENST00000358912.4	-	5	875	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W		NM_020651.3	NP_065702.2	Q96FA3	PELI1_HUMAN	pellino E3 ubiquitin protein ligase 1	145					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|protein K48-linked ubiquitination (GO:0070936)|response to dsRNA (GO:0043331)|response to lipopolysaccharide (GO:0032496)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						GGAGGATTCCGTTCACATATG	0.373																																						ENST00000358912.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						c.(433-435)Cgg>Tgg		pellino E3 ubiquitin protein ligase 1							109	102	105					2																	64323615		2203	4300	6503	SO:0001583	missense	57162				innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol		g.chr2:64323615G>A		CCDS1876.1	2p13.3	2012-02-23	2012-02-23		ENSG00000197329	ENSG00000197329		"Pellino homologs"	8827	protein-coding gene	gene with protein product		614797	"pellino (Drosophila) homolog 1", "pellino homolog 1 (Drosophila)"			11306823, 16951688	Standard	NM_020651		Approved		uc002sct.4	Q96FA3	OTTHUMG00000129511	ENST00000358912.4:c.433C>T	2.37:g.64323615G>A	ENSP00000351789:p.Arg145Trp						p.R145W	NM_020651.3	NP_065702.2	Q96FA3	PELI1_HUMAN			5	875	-			145					Q96SM0|Q9GZY5|Q9HCX0	Missense_Mutation	SNP	ENST00000358912.4	37	c.433C>T	CCDS1876.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.753936	0.69648	.	.	ENSG00000197329	ENST00000358912	T	0.61510	0.1	5.5	3.69	0.42338	.	0.050782	0.85682	D	0.000000	T	0.76601	0.4010	M	0.88906	2.99	0.54753	D	0.999989	D	0.89917	1.0	D	0.97110	1.0	T	0.77803	-0.2451	10	0.87932	D	0	-16.7779	8.7163	0.34414	0.0688:0.0:0.6623:0.2689	.	145	Q96FA3	PELI1_HUMAN	W	145	ENSP00000351789:R145W	ENSP00000351789:R145W	R	-	1	2	PELI1	64177119	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.206000	0.42779	0.788000	0.33755	0.655000	0.94253	CGG		0.373	PELI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251686.1	NM_020651		5	17	0	0	0	1	0	5	17					A	64323615	G	A	64323615	3	1	445	1	0	0	0	0	1	0	0	0	11721	1144	40	1	835	1	PELI1	2	64323615	Missense_Mutation	SNP	G	TCGA-FY-A4B0-01A-21D-A23U-08		64323615	178875758	3	9074											
SLC4A7	9497	broad.mit.edu	37	chr3	27444633	27444633	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaagagaaatacttacgagTagctggtcagtttatctaag	9	5	2	1			TCGA-FY-A4B0-01A-21D-A23U-08	TCGA-FY-A4B0-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c5369c0-0005-4ca1-b5c7-0f44174f556b	fadf7923-0df0-4bd1-bc7a-707eb8181477	g.chr3:27444633T>C	ENST00000295736.5	-	15	2361	c.2291A>G	c.(2290-2292)tAc>tGc	p.Y764C	SLC4A7_ENST00000428386.1_Missense_Mutation_p.Y640C|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000446700.1_Missense_Mutation_p.Y756C|SLC4A7_ENST00000454389.1_Missense_Mutation_p.Y773C|SLC4A7_ENST00000455077.1_Missense_Mutation_p.Y645C|SLC4A7_ENST00000440156.1_Missense_Mutation_p.Y760C|SLC4A7_ENST00000388777.4_Missense_Mutation_p.Y314C|SLC4A7_ENST00000445684.1_Missense_Mutation_p.Y760C|SLC4A7_ENST00000437179.1_Missense_Mutation_p.Y645C|SLC4A7_ENST00000435667.2_Missense_Mutation_p.Y649C	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	764					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	TACTTACGAGTAGCTGGTCAG	0.328																																						ENST00000295736.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						c.(2290-2292)tAc>tGc		solute carrier family 4, sodium bicarbonate cotransporter, member 7							63	63	63					3																	27444633		2203	4300	6503	SO:0001583	missense	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27444633T>C	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"Solute carriers"	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.2291A>G	3.37:g.27444633T>C	ENSP00000295736:p.Tyr764Cys					SLC4A7_ENST00000388777.4_Missense_Mutation_p.Y314C|SLC4A7_ENST00000435667.2_Missense_Mutation_p.Y649C|SLC4A7_ENST00000440156.1_Missense_Mutation_p.Y760C|SLC4A7_ENST00000445684.1_Missense_Mutation_p.Y760C|SLC4A7_ENST00000437179.1_Missense_Mutation_p.Y645C|SLC4A7_ENST00000428386.1_Missense_Mutation_p.Y640C|SLC4A7_ENST00000454389.1_Missense_Mutation_p.Y773C|SLC4A7_ENST00000455077.1_Missense_Mutation_p.Y645C|SLC4A7_ENST00000446700.1_Missense_Mutation_p.Y756C|SLC4A7_ENST00000425128.2_3'UTR	p.Y764C	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN			15	2361	-			764					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	c.2291A>G	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.164417	0.78339	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29	5.43	5.43	0.79202	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91533	0.7326	M	0.92026	3.265	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0;0.995;0.998;1.0;0.999	D;D;D;D;D;D;D;D;D	0.97110	0.992;0.976;0.992;1.0;0.992;0.944;0.959;0.992;0.987	D	0.92815	0.6267	10	0.52906	T	0.07	.	15.466	0.75400	0.0:0.0:0.0:1.0	.	760;645;756;760;773;314;640;764;645	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	C	315;764;640;773;760;645;756;645;760;649;314;660	ENSP00000411031:Y315C;ENSP00000295736:Y764C;ENSP00000416368:Y640C;ENSP00000390394:Y773C;ENSP00000414797:Y760C;ENSP00000394252:Y645C;ENSP00000406605:Y756C;ENSP00000407382:Y645C;ENSP00000406804:Y760C;ENSP00000395336:Y649C;ENSP00000373429:Y314C;ENSP00000388703:Y660C	ENSP00000295736:Y764C	Y	-	2	0	SLC4A7	27419637	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	6.260000	0.72502	2.055000	0.61198	0.459000	0.35465	TAC		0.328	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		13	19	0	0	0	1	0	13	19					C	27444633	T	C	27444633	3	2	445	1	0	0	0	0	1	0	0	0	14658	1638	57	3	1397	3	SLC4A7	3	27444633	Missense_Mutation	SNP	T	TCGA-FY-A4B0-01A-21D-A23U-08		27444633	170577797	4	9075											
ITGA9	3680	broad.mit.edu	37	chr3	37523045	37523045	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accccatggcttctgctacaTcatcccctccaacctccagg	5	19	2	0			TCGA-FY-A4B0-01A-21D-A23U-08	TCGA-FY-A4B0-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c5369c0-0005-4ca1-b5c7-0f44174f556b	fadf7923-0df0-4bd1-bc7a-707eb8181477	g.chr3:37523045T>G	ENST00000264741.5	+	4	747	c.491T>G	c.(490-492)aTc>aGc	p.I164S	ITGA9_ENST00000422441.1_Missense_Mutation_p.I164S	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	164					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TTCTGCTACATCATCCCCTCC	0.537																																						ENST00000264741.5																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44						c.(490-492)aTc>aGc		integrin, alpha 9							249	208	222					3																	37523045		2203	4300	6503	SO:0001583	missense	3680				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr3:37523045T>G	L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"Integrins"	6145	protein-coding gene	gene with protein product	"integrin, alpha 4-like"	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.491T>G	3.37:g.37523045T>G	ENSP00000264741:p.Ile164Ser					ITGA9_ENST00000422441.1_Missense_Mutation_p.I164S	p.I164S	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)	4	747	+			164					Q14638	Missense_Mutation	SNP	ENST00000264741.5	37	c.491T>G	CCDS2669.1	.	.	.	.	.	.	.	.	.	.	T	15.15	2.748728	0.49257	.	.	ENSG00000144668	ENST00000422441;ENST00000264741	T;T	0.72725	-0.68;-0.68	5.47	5.47	0.80525	.	0.272209	0.40640	N	0.001048	T	0.65375	0.2685	L	0.45228	1.405	0.58432	D	0.999992	B;B	0.23591	0.043;0.088	B;B	0.25759	0.039;0.063	T	0.64837	-0.6313	10	0.66056	D	0.02	.	14.5203	0.67847	0.0:0.0:0.0:1.0	.	164;164	Q13797;E9PDS3	ITA9_HUMAN;.	S	164	ENSP00000397258:I164S;ENSP00000264741:I164S	ENSP00000264741:I164S	I	+	2	0	ITGA9	37498049	1.000000	0.71417	1.000000	0.80357	0.600000	0.36913	7.261000	0.78400	2.077000	0.62373	0.379000	0.24179	ATC		0.537	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207		32	49	0	0	0	1	0	32	49					G	37523045	T	G	37523045	3	3	445	1	0	0	0	0	1	0	0	0	7883	1435	50	5	505	5	ITGA9	3	37523045	Missense_Mutation	SNP	T	TCGA-FY-A4B0-01A-21D-A23U-08	10078412	37523045	160499385	5	9076											
CASR	846	broad.mit.edu	37	chr3	121980815	121980815	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcgccatgcctcagtacttCcacgtggttggcggcaccat	10	14	1	0			TCGA-FY-A4B0-01A-21D-A23U-08	TCGA-FY-A4B0-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c5369c0-0005-4ca1-b5c7-0f44174f556b	fadf7923-0df0-4bd1-bc7a-707eb8181477	g.chr3:121980815C>T	ENST00000490131.1	+	4	1305	c.933C>T	c.(931-933)ttC>ttT	p.F311F	CASR_ENST00000296154.5_Silent_p.F311F|CASR_ENST00000498619.1_Silent_p.F311F	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	311					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)	CTCAGTACTTCCACGTGGTTG	0.597																																						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.(931-933)ttC>ttT		calcium-sensing receptor	Cinacalcet(DB01012)						62	55	57					3																	121980815		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.chr3:121980815C>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.933C>T	3.37:g.121980815C>T						CASR_ENST00000490131.1_Silent_p.F311F|CASR_ENST00000296154.5_Silent_p.F311F	p.F311F	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	4	1371	+			311					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	37	c.933C>T	CCDS3010.1																																																																																				0.597	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		20	36	0	0	0	1	0	20	36					T	121980815	C	T	121980815	2	4	445	1	0	0	0	0	0	0	0	1	2682	854	30	2		2	CASR	3	121980815	Silent	SNP	C	TCGA-FY-A4B0-01A-21D-A23U-08	84457770	121980815	76041615	6	9077											
ZNF454	285676	broad.mit.edu	37	chr5	178392106	178392106	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtacgcaccttatccatcAccaaagaattcacactggcg	7	13	2	1			TCGA-FY-A4B0-01A-21D-A23U-08	TCGA-FY-A4B0-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c5369c0-0005-4ca1-b5c7-0f44174f556b	fadf7923-0df0-4bd1-bc7a-707eb8181477	g.chr5:178392106A>G	ENST00000320129.3	+	5	1004	c.701A>G	c.(700-702)cAc>cGc	p.H234R	ZNF454_ENST00000519564.1_Missense_Mutation_p.H234R	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	234					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|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)	all cancers(165;0.234)		CTTATCCATCACCAAAGAATT	0.388																																						ENST00000320129.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46						c.(700-702)cAc>cGc		zinc finger protein 454							99	103	101					5																	178392106		2203	4300	6503	SO:0001583	missense	285676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178392106A>G	AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"Zinc fingers, C2H2-type", "-"	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.701A>G	5.37:g.178392106A>G	ENSP00000326249:p.His234Arg					ZNF454_ENST00000519564.1_Missense_Mutation_p.H234R	p.H234R	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)	5	1004	+	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	234					Q2M1P2|Q2M323	Missense_Mutation	SNP	ENST00000320129.3	37	c.701A>G	CCDS4441.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.19|16.19	3.053062|3.053062	0.55218|0.55218	.|.	.|.	ENSG00000178187|ENSG00000113262	ENST00000320129;ENST00000519564|ENST00000319065	D;D|.	0.86865|.	-2.18;-2.18|.	4.46|4.46	4.46|4.46	0.54185|0.54185	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|.	0.41823|.	D|.	0.000813|.	T|T	0.80037|0.80037	0.4550|0.4550	M|M	0.93678|0.93678	3.445|3.445	0.37782|0.37782	D|D	0.927065|0.927065	D|.	0.76494|.	0.999|.	D|.	0.65684|.	0.937|.	D|D	0.85097|0.85097	0.0955|0.0955	10|6	0.87932|0.87932	D|D	0|0	-14.7734|-14.7734	8.3346|8.3346	0.32206|0.32206	0.8001:0.1999:0.0:0.0|0.8001:0.1999:0.0:0.0	.|.	234|.	Q8N9F8|.	ZN454_HUMAN|.	R|A	234|1088	ENSP00000326249:H234R;ENSP00000430354:H234R|.	ENSP00000326249:H234R|ENSP00000325675:V1088A	H|V	+|-	2|2	0|0	ZNF454|GRM6	178324712|178324712	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	8.342000|8.342000	0.90049|0.90049	1.999000|1.999000	0.58509|0.58509	0.454000|0.454000	0.30748|0.30748	CAC|GTG		0.388	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2	XM_209718		21	46	0	0	0	1	0	21	46					G	178392106	A	G	178392106	3	3	445	1	0	0	0	0	1	0	0	0	17920	159	6	3	715	3	ZNF454	5	178392106	Missense_Mutation	SNP	A	TCGA-FY-A4B0-01A-21D-A23U-08		178392106	2523154	7	9078											
CHRNA2	1135	broad.mit.edu	37	chr8	27319199	27319199	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggccgatggtccccaggaAgcagacgatgataaacagcc	13	11	0	2			TCGA-FY-A4B0-01A-21D-A23U-08	TCGA-FY-A4B0-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c5369c0-0005-4ca1-b5c7-0f44174f556b	fadf7923-0df0-4bd1-bc7a-707eb8181477	g.chr8:27319199A>G	ENST00000520933.2	-	6	1690	c.1537T>C	c.(1537-1539)Ttc>Ctc	p.F513L	CHRNA2_ENST00000407991.1_Missense_Mutation_p.F513L|CHRNA2_ENST00000240132.2_Missense_Mutation_p.F498L			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	513					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transport (GO:0006811)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339)	GTCCCCAGGAAGCAGACGATG	0.572																																						ENST00000407991.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1537-1539)Ttc>Ctc		cholinergic receptor, nicotinic, alpha 2 (neuronal)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)						279	221	241					8																	27319199		2203	4300	6503	SO:0001583	missense	0					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:27319199A>G	U62431	CCDS6059.1, CCDS64856.1	8p21	2012-02-11	2006-02-01		ENSG00000120903	ENSG00000120903		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1956	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 2 (neuronal)"	118502	"cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)"			1505988	Standard	NM_000742		Approved		uc010lur.3	Q15822	OTTHUMG00000102083	ENST00000520933.2:c.1537T>C	8.37:g.27319199A>G	ENSP00000429616:p.Phe513Leu					CHRNA2_ENST00000520933.2_Missense_Mutation_p.F513L|CHRNA2_ENST00000240132.2_Missense_Mutation_p.F498L	p.F513L	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	7	2145	-		Ovarian(32;2.61e-05)	513					A8KAX3|B4DK19|J3KMY9|Q9HAQ3	Missense_Mutation	SNP	ENST00000520933.2	37	c.1537T>C	CCDS6059.1	.	.	.	.	.	.	.	.	.	.	A	13.43	2.233993	0.39498	.	.	ENSG00000120903	ENST00000407991;ENST00000520933;ENST00000240132	D;D;D	0.83250	-1.7;-1.7;-1.7	5.69	3.36	0.38483	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.060823	0.64402	D	0.000002	T	0.54334	0.1852	N	0.01146	-0.985	0.38964	D	0.958608	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.006	T	0.45338	-0.9268	10	0.21014	T	0.42	.	6.2895	0.21051	0.7384:0.0:0.2616:0.0	.	498;513	B4DK19;Q15822	.;ACHA2_HUMAN	L	513;513;498	ENSP00000385026:F513L;ENSP00000429616:F513L;ENSP00000240132:F498L	ENSP00000240132:F498L	F	-	1	0	CHRNA2	27375116	0.970000	0.33590	1.000000	0.80357	0.913000	0.54294	0.452000	0.21795	0.992000	0.38840	0.459000	0.35465	TTC		0.572	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376125.4			17	41	0	0	0	1	0	17	41					G	27319199	A	G	27319199	3	3	445	1	0	0	0	0	1	0	0	0	3383	72	3	3	56	3	CHRNA2	8	27319199	Missense_Mutation	SNP	A	TCGA-FY-A4B0-01A-21D-A23U-08		27319199	119044823	8	9079											
PNPLA7	375775	broad.mit.edu	37	chr9	140358578	140358578	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgcagcaggagtgctcacCgtcggtgtggacccgcatgg	16	12	1	0	rs201862577		TCGA-FY-A4B0-01A-21D-A23U-08	TCGA-FY-A4B0-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c5369c0-0005-4ca1-b5c7-0f44174f556b	fadf7923-0df0-4bd1-bc7a-707eb8181477	g.chr9:140358578C>T	ENST00000277531.4	-	27	3337	c.3151G>A	c.(3151-3153)Ggc>Agc	p.G1051S	PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000371457.1_Splice_Site_p.G657S|PNPLA7_ENST00000406427.1_Splice_Site_p.G1076S	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1051	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)		GAGTGCTCACCGTCGGTGTGG	0.692																																						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.e28+1		patatin-like phospholipase domain containing 7							62	58	60					9																	140358578		2203	4300	6503	SO:0001630	splice_region_variant	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140358578C>T	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.3151+1G>A	9.37:g.140358578C>T						PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000371457.1_Splice_Site_p.G657_splice|PNPLA7_ENST00000277531.4_Splice_Site_p.G1051_splice	p.G1076_splice	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	28	3562	-	all_cancers(76;0.126)		1051			Patatin.		B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Splice_Site	SNP	ENST00000277531.4	37	c.3226_splice	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	c	23.0	4.363419	0.82353	.	.	ENSG00000130653	ENST00000371457;ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3	3.86	3.86	0.44501	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.000000	0.85682	D	0.000000	D	0.94745	0.8304	H	0.99897	4.91	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.80764	0.994;0.943;0.993;0.993	D	0.97273	0.9912	9	.	.	.	-28.3547	15.1359	0.72566	0.0:1.0:0.0:0.0	.	459;1076;1051;317	E2QRF8;Q6ZV29-5;Q6ZV29;B3KXH5	.;.;PLPL7_HUMAN;.	S	657;459;1051;1076;1051;1042	ENSP00000360512:G657S;ENSP00000360501:G459S;ENSP00000277531:G1051S;ENSP00000384610:G1076S;ENSP00000400582:G1042S	.	G	-	1	0	PNPLA7	139478399	1.000000	0.71417	0.845000	0.33349	0.319000	0.28217	7.419000	0.80179	1.855000	0.53841	0.457000	0.33378	GGC		0.692	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286	Missense_Mutation	9	15	0	0	0	1	0	9	15					T	140358578	C	T	140358578	5	4	445	1	0	0	0	0	0	0	1	0	12170	666	23	1	834	1	PNPLA7	9	140358578	Splice_Site	SNP	C	TCGA-FY-A4B0-01A-21D-A23U-08		140358578	854853	9	9080											
RIN1	9610	broad.mit.edu	37	chr11	66103088	66103088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggcagactcaccgggtgtGgcagtaggcacagatgagct	16	10	1	3			TCGA-FY-A4B0-01A-21D-A23U-08	TCGA-FY-A4B0-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c5369c0-0005-4ca1-b5c7-0f44174f556b	fadf7923-0df0-4bd1-bc7a-707eb8181477	g.chr11:66103088G>A	ENST00000311320.4	-	4	574	c.448C>T	c.(448-450)Cac>Tac	p.H150Y	RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000424433.2_Missense_Mutation_p.H45Y|RIN1_ENST00000530056.1_Missense_Mutation_p.H45Y|RIN1_ENST00000524804.1_5'Flank	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	150	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						CACCGGGTGTGGCAGTAGGCA	0.647																																						ENST00000311320.4																			0				breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						c.(448-450)Cac>Tac		Ras and Rab interactor 1							45	44	44					11																	66103088		2200	4295	6495	SO:0001583	missense	9610				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding	g.chr11:66103088G>A	L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.448C>T	11.37:g.66103088G>A	ENSP00000310406:p.His150Tyr					RIN1_ENST00000530056.1_Missense_Mutation_p.H45Y|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000424433.2_Missense_Mutation_p.H45Y	p.H150Y	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN			4	574	-			150			SH2.		O15010|Q00427|Q96CC8	Missense_Mutation	SNP	ENST00000311320.4	37	c.448C>T	CCDS31614.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.170326	0.38315	.	.	ENSG00000174791	ENST00000311320;ENST00000424433;ENST00000530056	T;T;T	0.41758	0.99;1.56;1.56	3.81	3.81	0.43845	SH2 motif (3);	0.633137	0.14904	N	0.291643	T	0.24851	0.0603	N	0.14661	0.345	0.22521	N	0.999023	P;P	0.43826	0.818;0.666	B;B	0.43413	0.419;0.047	T	0.06734	-1.0810	10	0.02654	T	1	-8.5168	11.3956	0.49841	0.0:0.0:1.0:0.0	.	45;150	E9PNR2;Q13671	.;RIN1_HUMAN	Y	150;45;45	ENSP00000310406:H150Y;ENSP00000400560:H45Y;ENSP00000432798:H45Y	ENSP00000310406:H150Y	H	-	1	0	RIN1	65859664	0.278000	0.24230	0.970000	0.41538	0.950000	0.60333	0.528000	0.23002	2.144000	0.66660	0.462000	0.41574	CAC		0.647	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392980.2	NM_004292		6	14	0	0	0	1	0	6	14					A	66103088	G	A	66103088	3	1	445	1	0	0	0	0	1	0	0	0	13371	1348	47	2	1931	2	RIN1	11	66103088	Missense_Mutation	SNP	G	TCGA-FY-A4B0-01A-21D-A23U-08		66103088	68903428	10	9081											
ARID2	196528	broad.mit.edu	37	chr12	46243462	46243462	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaaaacggagggctataccActtcccattcagatgtacta	8	10	1	1			TCGA-FY-A4B0-01A-21D-A23U-08	TCGA-FY-A4B0-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c5369c0-0005-4ca1-b5c7-0f44174f556b	fadf7923-0df0-4bd1-bc7a-707eb8181477	g.chr12:46243462A>G	ENST00000334344.6	+	14	1987	c.1815A>G	c.(1813-1815)ccA>ccG	p.P605P	ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Silent_p.P456P|ARID2_ENST00000444670.1_Silent_p.P215P	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	605					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GGGCTATACCACTTCCCATTC	0.463			"N, S, F"		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"N, S, F"	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(1813-1815)ccA>ccG		AT rich interactive domain 2 (ARID, RFX-like)							317	289	298					12																	46243462		2203	4300	6503	SO:0001819	synonymous_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46243462A>G		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.1815A>G	12.37:g.46243462A>G						ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Silent_p.P456P|ARID2_ENST00000444670.1_Silent_p.P215P	p.P605P	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	14	1987	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	605					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Silent	SNP	ENST00000334344.6	37	c.1815A>G	CCDS31783.1																																																																																				0.463	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		9	55	0	0	0	1	0	9	55					G	46243462	A	G	46243462	2	3	445	1	0	0	0	0	0	0	0	1	915	146	6	3		3	ARID2	12	46243462	Silent	SNP	A	TCGA-FY-A4B0-01A-21D-A23U-08		46243462	87608433	11	9082											
TRAFD1	10906	broad.mit.edu	37	chr12	112578720	112578720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagattattgtggtgcccGgacggaactatgtggcaact	13	7	0	2			TCGA-FY-A4B0-01A-21D-A23U-08	TCGA-FY-A4B0-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c5369c0-0005-4ca1-b5c7-0f44174f556b	fadf7923-0df0-4bd1-bc7a-707eb8181477	g.chr12:112578720G>A	ENST00000257604.5	+	5	952	c.335G>A	c.(334-336)cGg>cAg	p.R112Q	TRAFD1_ENST00000412615.2_Missense_Mutation_p.R112Q	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	112					negative regulation of innate immune response (GO:0045824)|response to cytokine (GO:0034097)		metal ion binding (GO:0046872)			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						TGTGGTGCCCGGACGGAACTA	0.483																																						ENST00000257604.5																			0				kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						c.(334-336)cGg>cAg		TRAF-type zinc finger domain containing 1							119	106	110					12																	112578720		2203	4300	6503	SO:0001583	missense	10906				negative regulation of innate immune response	intracellular	protein binding|zinc ion binding	g.chr12:112578720G>A	AB007447	CCDS9160.1	12q24.13	2013-01-25			ENSG00000135148	ENSG00000135148			24808	protein-coding gene	gene with protein product		613197				12477932	Standard	NM_006700		Approved	FLN29	uc001ttp.3	O14545	OTTHUMG00000169640	ENST00000257604.5:c.335G>A	12.37:g.112578720G>A	ENSP00000257604:p.Arg112Gln					TRAFD1_ENST00000412615.2_Missense_Mutation_p.R112Q	p.R112Q	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN			5	952	+			112					A8K5L6|B4DI89	Missense_Mutation	SNP	ENST00000257604.5	37	c.335G>A	CCDS9160.1	.	.	.	.	.	.	.	.	.	.	G	35	5.569583	0.96540	.	.	ENSG00000135148	ENST00000412615;ENST00000549358;ENST00000257604;ENST00000552896	T;T;T;T	0.35236	1.32;1.32;1.32;1.32	5.92	5.92	0.95590	.	0.160039	0.52532	D	0.000061	T	0.65595	0.2706	M	0.81112	2.525	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.67268	-0.5713	10	0.72032	D	0.01	-21.6871	19.9191	0.97079	0.0:0.0:1.0:0.0	.	112;112	F8VNX8;O14545	.;TRAD1_HUMAN	Q	112	ENSP00000396526:R112Q;ENSP00000449319:R112Q;ENSP00000257604:R112Q;ENSP00000450357:R112Q	ENSP00000257604:R112Q	R	+	2	0	TRAFD1	111063103	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.233000	0.89799	2.812000	0.96745	0.563000	0.77884	CGG		0.483	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405214.1	NM_006700		15	42	0	0	0	1	0	15	42					A	112578720	G	A	112578720	3	1	445	1	0	0	0	0	1	0	0	0	16444	1116	39	1	349	1	TRAFD1	12	112578720	Missense_Mutation	SNP	G	TCGA-FY-A4B0-01A-21D-A23U-08	66335258	112578720	21273175	12	9083											
TMCO3	55002	broad.mit.edu	37	chr13	114149937	114149937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcttctgggtgctgtttcCcgtccttccctgggcggtgc	12	14	2	0	rs185071949	byFrequency	TCGA-FY-A4B0-01A-21D-A23U-08	TCGA-FY-A4B0-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c5369c0-0005-4ca1-b5c7-0f44174f556b	fadf7923-0df0-4bd1-bc7a-707eb8181477	g.chr13:114149937C>T	ENST00000434316.2	+	2	400	c.41C>T	c.(40-42)cCc>cTc	p.P14L	TMCO3_ENST00000375391.1_Missense_Mutation_p.P14L|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	14						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GTGCTGTTTCCCGTCCTTCCC	0.642													C|||	6	0.00119808	0	0	5008	,	,		15699	0.005		0	False		,,,				2504	0.001					ENST00000434316.2																			0				NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25						c.(40-42)cCc>cTc		transmembrane and coiled-coil domains 3							91	84	86					13																	114149937		2203	4300	6503	SO:0001583	missense	55002					integral to membrane	solute:hydrogen antiporter activity	g.chr13:114149937C>T	BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 11"	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.41C>T	13.37:g.114149937C>T	ENSP00000389399:p.Pro14Leu					TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Missense_Mutation_p.P14L	p.P14L	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	all cancers(43;0.0317)		2	400	+	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	14					Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Missense_Mutation	SNP	ENST00000434316.2	37	c.41C>T	CCDS9537.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	C	14.18	2.459064	0.43634	.	.	ENSG00000150403	ENST00000434316;ENST00000375391	T	0.28666	1.6	5.59	2.95	0.34219	.	0.506338	0.21058	N	0.080869	T	0.20129	0.0484	L	0.51422	1.61	0.09310	N	0.999999	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.14868	-1.0457	10	0.44086	T	0.13	-14.1903	10.5121	0.44868	0.0:0.795:0.0:0.205	.	14;14	Q6UWJ1;Q6UWJ1-2	TMCO3_HUMAN;.	L	14	ENSP00000389399:P14L	ENSP00000364540:P14L	P	+	2	0	TMCO3	113197938	0.113000	0.22115	0.000000	0.03702	0.003000	0.03518	1.500000	0.35682	0.340000	0.23745	0.650000	0.86243	CCC		0.642	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905		5	25	0	0	0	1	0	5	25					T	114149937	C	T	114149937	3	4	445	1	0	0	0	0	1	0	0	0	15994	623	22	2	43	2	TMCO3	13	114149937	Missense_Mutation	SNP	C	TCGA-FY-A4B0-01A-21D-A23U-08		114149937	1019941	13	9084											
KIAA0284	283638	broad.mit.edu	37	chr14	105349547	105349547	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacgagatgcccacgaaggaTgcagaggcaggtgggggcgg	19	9	0	2	rs200725057		TCGA-FY-A4B0-01A-21D-A23U-08	TCGA-FY-A4B0-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c5369c0-0005-4ca1-b5c7-0f44174f556b	fadf7923-0df0-4bd1-bc7a-707eb8181477	g.chr14:105349547T>C	ENST00000414716.3	+	8	981	c.753T>C	c.(751-753)gaT>gaC	p.D251D	CEP170B_ENST00000453495.1_Silent_p.D252D|CEP170B_ENST00000556508.1_Silent_p.D181D|CEP170B_ENST00000418279.1_Silent_p.D181D	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	251						cytoplasm (GO:0005737)|microtubule (GO:0005874)											CCACGAAGGATGCAGAGGCAG	0.662													t|||	1	0.000199681	0	0	5008	,	,		12616	0		0.001	False		,,,				2504	0					ENST00000453495.1																			0											c.(754-756)gaT>gaC		centrosomal protein 170B			,	3,4053		0,3,2025	26	35	32		753,543	-3.4	0.0	14		32	16,8306		0,16,4145	no	coding-synonymous,coding-synonymous	KIAA0284	NM_001112726.2,NM_015005.2	,	0,19,6170	CC,CT,TT		0.1923,0.074,0.1535	,	251/1555,181/1520	105349547	19,12359	2028	4161	6189	SO:0001819	synonymous_variant	283638							g.chr14:105349547T>C	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"Cep170-related"		"KIAA0284"	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.753T>C	14.37:g.105349547T>C						CEP170B_ENST00000418279.1_Silent_p.D181D|CEP170B_ENST00000414716.3_Silent_p.D251D|CEP170B_ENST00000556508.1_Silent_p.D181D	p.D252D							8	984	+								Q2KHR7|Q86TI7	Silent	SNP	ENST00000414716.3	37	c.756T>C	CCDS45175.1																																																																																				0.662	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		6	32	0	0	0	1	0	6	32					C	105349547	T	C	105349547	2	2	445	1	0	0	0	0	0	0	0	1	8166	1461	51	3		3	KIAA0284	14	105349547	Silent	SNP	T	TCGA-FY-A4B0-01A-21D-A23U-08		105349547	1999993	14	9085											
SECISBP2L	9728	broad.mit.edu	37	chr15	49284490	49284490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagagtgctctttgttgagcGagctgcagttgctggacttc	13	9	1	2	rs140688864	byFrequency	TCGA-FY-A4B0-01A-21D-A23U-08	TCGA-FY-A4B0-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c5369c0-0005-4ca1-b5c7-0f44174f556b	fadf7923-0df0-4bd1-bc7a-707eb8181477	g.chr15:49284490G>A	ENST00000559471.1	-	18	3520	c.3257C>T	c.(3256-3258)tCg>tTg	p.S1086L	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.S1041L	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	1086							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TTTGTTGAGCGAGCTGCAGTT	0.552													G|||	8	0.00159744	0	0	5008	,	,		18633	0.0079		0	False		,,,				2504	0					ENST00000559471.1																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						c.(3256-3258)tCg>tTg		SECIS binding protein 2-like		G	LEU/SER,LEU/SER	0,4394		0,0,2197	119	114	115		3257,3122	0.9	0.1	15	dbSNP_134	115	2,8588	2.2+/-6.3	0,2,4293	yes	missense,missense	SECISBP2L	NM_001193489.1,NM_014701.3	145,145	0,2,6490	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	1086/1102,1041/1057	49284490	2,12982	2197	4295	6492	SO:0001583	missense	9728							g.chr15:49284490G>A	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.3257C>T	15.37:g.49284490G>A	ENSP00000453854:p.Ser1086Leu					SECISBP2L_ENST00000261847.3_Missense_Mutation_p.S1041L	p.S1086L	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN			18	3520	-			1086					Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	c.3257C>T	CCDS53942.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	G	6.925	0.540279	0.13250	0.0	2.33E-4	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.73897	-0.79	4.81	0.88	0.19161	.	0.904599	0.09397	N	0.807736	T	0.51278	0.1665	N	0.19112	0.55	0.26816	N	0.968889	B;B	0.12630	0.003;0.006	B;B	0.06405	0.001;0.002	T	0.49399	-0.8944	10	0.87932	D	0	.	9.3455	0.38107	0.2908:0.0:0.7092:0.0	.	1086;1041	Q93073;Q93073-2	SBP2L_HUMAN;.	L	1041;1086	ENSP00000261847:S1041L	ENSP00000261847:S1041L	S	-	2	0	SECISBP2L	47071782	0.843000	0.29541	0.073000	0.20177	0.018000	0.09664	1.042000	0.30303	0.015000	0.14971	-0.757000	0.03467	TCG		0.552	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		7	47	0	0	0	1	0	7	47					A	49284490	G	A	49284490	3	1	445	1	0	0	0	0	1	0	0	0	14007	1059	37	1	52	1	SECISBP2L	15	49284490	Missense_Mutation	SNP	G	TCGA-FY-A4B0-01A-21D-A23U-08		49284490	53246902	15	9086											
NEDD4	4734	broad.mit.edu	37	chr15	56142876	56142876	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctggcctgaatcactggtgGaggcttgtgattgagggcct	16	8	1	3			TCGA-FY-A4B0-01A-21D-A23U-08	TCGA-FY-A4B0-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c5369c0-0005-4ca1-b5c7-0f44174f556b	fadf7923-0df0-4bd1-bc7a-707eb8181477	g.chr15:56142876G>A	ENST00000508342.1	-	10	2767	c.2468C>T	c.(2467-2469)tCc>tTc	p.S823F	NEDD4_ENST00000338963.2_Missense_Mutation_p.S751F|NEDD4_ENST00000435532.3_Missense_Mutation_p.S404F|NEDD4_ENST00000506154.1_Missense_Mutation_p.S807F	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	823	Mediates interaction with TNIK. {ECO:0000250}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		ATCACTGGTGGAGGCTTGTGA	0.498																																						ENST00000508342.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(2467-2469)tCc>tTc		neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase							81	81	81					15																	56142876		2193	4292	6485	SO:0001583	missense	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56142876G>A	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"receptor-potentiating factor 1"	602278	"neural precursor cell expressed, developmentally down-regulated 4"			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.2468C>T	15.37:g.56142876G>A	ENSP00000424827:p.Ser823Phe					NEDD4_ENST00000506154.1_Missense_Mutation_p.S807F|NEDD4_ENST00000338963.2_Missense_Mutation_p.S751F|NEDD4_ENST00000435532.3_Missense_Mutation_p.S404F	p.S823F			P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	10	2767	-			823			Mediates interaction with TNIK (By similarity).		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37	c.2468C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.293|9.293	1.051035|1.051035	0.19827|0.19827	.|.	.|.	ENSG00000069869|ENSG00000069869	ENST00000508871|ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154	.|T;T;T;T	.|0.22539	.|1.95;2.03;1.97;1.96	5.19|5.19	1.21|1.21	0.21127|0.21127	.|.	.|5.588700	.|0.00166	.|N	.|0.000000	T|T	0.16811|0.16811	0.0404|0.0404	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.32101	.|0.019;0.323;0.356;0.137	.|B;B;B;B	.|0.41571	.|0.014;0.36;0.158;0.104	T|T	0.37244|0.37244	-0.9714|-0.9714	5|10	.|0.20046	.|T	.|0.44	.|.	9.2181|9.2181	0.37360|0.37360	0.2974:0.0:0.7026:0.0|0.2974:0.0:0.7026:0.0	.|.	.|807;404;823;751	.|P46934-2;P46934-4;P46934;P46934-3	.|.;.;NEDD4_HUMAN;.	S|F	414|823;404;751;807	.|ENSP00000424827:S823F;ENSP00000410613:S404F;ENSP00000345530:S751F;ENSP00000422705:S807F	.|ENSP00000345530:S751F	P|S	-|-	1|2	0|0	NEDD4|NEDD4	53930168|53930168	0.022000|0.022000	0.18835|0.18835	0.000000|0.000000	0.03702|0.03702	0.006000|0.006000	0.05464|0.05464	2.009000|2.009000	0.40903|0.40903	0.041000|0.041000	0.15688|0.15688	0.455000|0.455000	0.32223|0.32223	CCA|TCC		0.498	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		7	35	0	0	0	1	0	7	35					A	56142876	G	A	56142876	3	1	445	1	0	0	0	0	1	0	0	0	10310	1174	41	2	1555	2	NEDD4	15	56142876	Missense_Mutation	SNP	G	TCGA-FY-A4B0-01A-21D-A23U-08	6858386	56142876	46388516	16	9087											
HDDC3	374659	broad.mit.edu	37	chr15	91475311	91475311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccacaatgtcagtgattcCcgcctcgtgggtcaggatcc	10	14	2	1			TCGA-FY-A4B0-01A-21D-A23U-08	TCGA-FY-A4B0-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c5369c0-0005-4ca1-b5c7-0f44174f556b	fadf7923-0df0-4bd1-bc7a-707eb8181477	g.chr15:91475311C>T	ENST00000394272.3	-	2	170	c.142G>A	c.(142-144)Gga>Aga	p.G48R	UNC45A_ENST00000394275.2_Intron|HDDC3_ENST00000330334.3_Missense_Mutation_p.G48R|HDDC3_ENST00000559898.1_Missense_Mutation_p.G48R|AC068831.3_ENST00000438890.1_RNA|AC068831.3_ENST00000448987.1_RNA			Q8N4P3	MESH1_HUMAN	HD domain containing 3	48	HD.						guanosine-3',5'-bis(diphosphate) 3'-diphosphatase activity (GO:0008893)|metal ion binding (GO:0046872)			NS(1)|ovary(1)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			TCAGTGATTCCCGCCTCGTGG	0.592											OREG0023475	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330334.3																			0				NS(1)|ovary(1)	2						c.(142-144)Gga>Aga		HD domain containing 3							50	50	50					15																	91475311		2198	4298	6496	SO:0001583	missense	374659						guanosine-3',5'-bis(diphosphate) 3'-diphosphatase activity|metal ion binding|phosphoric diester hydrolase activity	g.chr15:91475311C>T	AK057584	CCDS10366.1, CCDS66866.1	15q26.1	2005-08-22			ENSG00000184508	ENSG00000184508			30522	protein-coding gene	gene with protein product						12477932	Standard	NM_001286451		Approved	MGC45386	uc002bqe.4	Q8N4P3	OTTHUMG00000141260	ENST00000394272.3:c.142G>A	15.37:g.91475311C>T	ENSP00000377814:p.Gly48Arg		OREG0023475	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1282	HDDC3_ENST00000394272.3_Missense_Mutation_p.G48R|UNC45A_ENST00000394275.2_Intron|HDDC3_ENST00000559898.1_Missense_Mutation_p.G48R	p.G48R	NM_198527.2	NP_940929.1	Q8N4P3	MESH1_HUMAN	Lung(145;0.189)		2	147	-	Lung NSC(78;0.0771)|all_lung(78;0.137)		48			HD.			Missense_Mutation	SNP	ENST00000394272.3	37	c.142G>A		.	.	.	.	.	.	.	.	.	.	C	32	5.184576	0.94885	.	.	ENSG00000184508	ENST00000394272;ENST00000330334	.	.	.	4.49	4.49	0.54785	Metal-dependent phosphohydrolase, HD domain (1);Metal-dependent phosphohydrolase, HD subdomain (1);HD domain (1);	0.110324	0.64402	D	0.000010	T	0.76300	0.3968	M	0.79926	2.475	0.58432	D	0.99999	D;D	0.56521	0.96;0.976	P;P	0.61003	0.882;0.852	T	0.77811	-0.2449	9	0.42905	T	0.14	-21.7715	14.0956	0.65019	0.0:1.0:0.0:0.0	.	48;48	Q8N4P3;Q8N4P3-2	MESH1_HUMAN;.	R	48	.	ENSP00000330721:G48R	G	-	1	0	HDDC3	89276315	0.999000	0.42202	0.999000	0.59377	0.983000	0.72400	6.363000	0.73082	2.334000	0.79466	0.555000	0.69702	GGA		0.592	HDDC3-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000280403.2	NM_198527		5	13	0	0	0	1	0	5	13					T	91475311	C	T	91475311	3	4	445	1	0	0	0	0	1	0	0	0	7017	632	22	2	292	2	HDDC3	15	91475311	Missense_Mutation	SNP	C	TCGA-FY-A4B0-01A-21D-A23U-08	35332435	91475311	11056081	17	9088											
CHSY1	22856	broad.mit.edu	37	chr15	101775489	101775489	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggccagttttcccatttctTccgtggtgcccaggcctgtc	11	14	1	0			TCGA-FY-A4B0-01A-21D-A23U-08	TCGA-FY-A4B0-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c5369c0-0005-4ca1-b5c7-0f44174f556b	fadf7923-0df0-4bd1-bc7a-707eb8181477	g.chr15:101775489T>A	ENST00000254190.3	-	2	1089	c.614A>T	c.(613-615)gAa>gTa	p.E205V		NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	205					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCCCATTTCTTCCGTGGTGCC	0.587																																						ENST00000254190.3																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24						c.(613-615)gAa>gTa		chondroitin sulfate synthase 1							47	45	46					15																	101775489		2203	4300	6503	SO:0001583	missense	22856				chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr15:101775489T>A	AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	17198	protein-coding gene	gene with protein product		608183	"carbohydrate (chondroitin) synthase 1"			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.614A>T	15.37:g.101775489T>A	ENSP00000254190:p.Glu205Val						p.E205V	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		2	1089	-	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		205					Q6UX38|Q7LFU5|Q9Y2J5	Missense_Mutation	SNP	ENST00000254190.3	37	c.614A>T	CCDS10390.1	.	.	.	.	.	.	.	.	.	.	T	31	5.085618	0.94100	.	.	ENSG00000131873	ENST00000254190	D	0.84516	-1.86	5.72	5.72	0.89469	.	0.127938	0.50627	D	0.000106	D	0.88149	0.6359	M	0.81112	2.525	0.80722	D	1	P	0.37985	0.613	B	0.42282	0.382	D	0.88958	0.3391	10	0.59425	D	0.04	-25.6699	16.0204	0.80478	0.0:0.0:0.0:1.0	.	205	Q86X52	CHSS1_HUMAN	V	205	ENSP00000254190:E205V	ENSP00000254190:E205V	E	-	2	0	CHSY1	99593012	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	6.187000	0.72039	2.174000	0.68829	0.533000	0.62120	GAA		0.587	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313624.1	NM_014918		9	38	0	0	0	1	0	9	38					A	101775489	T	A	101775489	3	1	445	1	0	0	0	0	1	0	0	0	3412	1783	62	5	1802	5	CHSY1	15	101775489	Missense_Mutation	SNP	T	TCGA-FY-A4B0-01A-21D-A23U-08	10300178	101775489	755903	18	9089											
PLIN5	440503	broad.mit.edu	37	chr19	4523662	4523662	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccattcccactcccgtcccTgtgctctgcctcccaggctc	6	22	1	0			TCGA-FY-A4B0-01A-21D-A23U-08	TCGA-FY-A4B0-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c5369c0-0005-4ca1-b5c7-0f44174f556b	fadf7923-0df0-4bd1-bc7a-707eb8181477	g.chr19:4523662T>C	ENST00000381848.3	-	8	1350	c.1270A>G	c.(1270-1272)Agg>Ggg	p.R424G		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	424	Interaction with PNPLA2 and ABHD5. {ECO:0000250}.				lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CTCCCGTCCCTGTGCTCTGCC	0.701											OREG0025168	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000381848.3																			0				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						c.(1270-1272)Agg>Ggg		perilipin 5							68	77	74					19																	4523662		2005	4167	6172	SO:0001583	missense	440503					lipid particle		g.chr19:4523662T>C	DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"Perilipins"	33196	protein-coding gene	gene with protein product	"lipid storage droplet protein 5"	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.1270A>G	19.37:g.4523662T>C	ENSP00000371272:p.Arg424Gly		OREG0025168	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	619		p.R424G	NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN			8	1350	-			424					A2RRC1|Q6ZS68	Missense_Mutation	SNP	ENST00000381848.3	37	c.1270A>G	CCDS42473.1	.	.	.	.	.	.	.	.	.	.	T	2.595	-0.294309	0.05568	.	.	ENSG00000214456	ENST00000381848	T	0.12147	2.71	4.62	1.17	0.20885	.	5.447750	0.01386	U	0.013110	T	0.05593	0.0147	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33650	-0.9860	10	0.07990	T	0.79	-7.6457	6.5387	0.22369	0.0:0.5475:0.3514:0.1011	.	424	Q00G26	PLIN5_HUMAN	G	424	ENSP00000371272:R424G	ENSP00000371272:R424G	R	-	1	2	PLIN5	4474662	0.001000	0.12720	0.002000	0.10522	0.007000	0.05969	-0.115000	0.10741	0.038000	0.15604	-0.385000	0.06624	AGG		0.701	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458647.1	NM_001013706		9	79	0	0	0	1	0	9	79					C	4523662	T	C	4523662	3	2	445	1	0	0	0	0	1	0	0	0	12093	1579	55	3	125	3	PLIN5	19	4523662	Missense_Mutation	SNP	T	TCGA-FY-A4B0-01A-21D-A23U-08		4523662	54605321	19	9090											
KEAP1	9817	broad.mit.edu	37	chr19	10610400	10610400	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catggccttgaagacagggcTggatgaggccagcaccacct	13	12	0	3			TCGA-FY-A4B0-01A-21D-A23U-08	TCGA-FY-A4B0-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c5369c0-0005-4ca1-b5c7-0f44174f556b	fadf7923-0df0-4bd1-bc7a-707eb8181477	g.chr19:10610400T>C	ENST00000171111.5	-	2	857	c.310A>G	c.(310-312)Agc>Ggc	p.S104G	KEAP1_ENST00000588024.1_5'Flank|KEAP1_ENST00000393623.2_Missense_Mutation_p.S104G	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	104	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	AAGACAGGGCTGGATGAGGCC	0.622																																						ENST00000171111.5																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92						c.(310-312)Agc>Ggc		kelch-like ECH-associated protein 1							82	67	72					19																	10610400		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10610400T>C	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"Kelch-like", "BTB/POZ domain containing"	23177	protein-coding gene	gene with protein product	"kelch-like family member 19"	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.310A>G	19.37:g.10610400T>C	ENSP00000171111:p.Ser104Gly					KEAP1_ENST00000393623.2_Missense_Mutation_p.S104G	p.S104G	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		2	857	-			104			BTB.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.310A>G	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	T	14.28	2.488221	0.44249	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	D;D	0.85629	-2.01;-2.01	4.68	4.68	0.58851	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.099963	0.64402	D	0.000004	D	0.94345	0.8182	H	0.96111	3.77	0.51012	D	0.999903	D	0.89917	1.0	D	0.87578	0.998	D	0.95452	0.8535	10	0.87932	D	0	.	12.0934	0.53739	0.0:0.0:0.0:1.0	.	104	Q14145	KEAP1_HUMAN	G	104	ENSP00000171111:S104G;ENSP00000377245:S104G	ENSP00000171111:S104G	S	-	1	0	KEAP1	10471400	1.000000	0.71417	0.996000	0.52242	0.139000	0.21198	5.064000	0.64338	1.756000	0.51951	0.379000	0.24179	AGC		0.622	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		13	6	0	0	0	1	0	13	6					C	10610400	T	C	10610400	3	2	445	1	0	0	0	0	1	0	0	0	8141	1580	55	3	1584	3	KEAP1	19	10610400	Missense_Mutation	SNP	T	TCGA-FY-A4B0-01A-21D-A23U-08	6086738	10610400	48518583	20	9091											
FFAR1	2864	broad.mit.edu	37	chr19	35842863	35842863	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctgggccctcgtcctgtgtCacctgggtctggtctttggg	14	12	4	0			TCGA-FY-A4B0-01A-21D-A23U-08	TCGA-FY-A4B0-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c5369c0-0005-4ca1-b5c7-0f44174f556b	fadf7923-0df0-4bd1-bc7a-707eb8181477	g.chr19:35842863C>T	ENST00000246553.2	+	1	419	c.409C>T	c.(409-411)Cac>Tac	p.H137Y		NM_005303.2	NP_005294.1	O14842	FFAR1_HUMAN	free fatty acid receptor 1	137					energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|positive regulation of GTPase activity (GO:0043547)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	CGTCCTGTGTCACCTGGGTCT	0.657																																						ENST00000246553.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(409-411)Cac>Tac		free fatty acid receptor 1	Icosapent(DB00159)						78	77	77					19																	35842863		2203	4300	6503	SO:0001583	missense	2864				energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding	g.chr19:35842863C>T	AF024687	CCDS12458.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000126266	ENSG00000126266		"GPCR / Class A : Fatty acid receptors"	4498	protein-coding gene	gene with protein product		603820	"G protein-coupled receptor 40"	GPR40		15684720	Standard	NM_005303		Approved	FFA1R	uc002nzc.2	O14842		ENST00000246553.2:c.409C>T	19.37:g.35842863C>T	ENSP00000246553:p.His137Tyr						p.H137Y	NM_005303.2	NP_005294.1	O14842	FFAR1_HUMAN	Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		1	419	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		137					Q0VAS2|Q4VBL4	Missense_Mutation	SNP	ENST00000246553.2	37	c.409C>T	CCDS12458.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209031	0.58343	.	.	ENSG00000126266	ENST00000246553	T	0.71461	-0.57	4.23	4.23	0.50019	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.77538	0.4145	L	0.61218	1.895	0.37694	D	0.923947	D	0.76494	0.999	D	0.77004	0.989	T	0.75288	-0.3370	10	0.02654	T	1	-22.784	14.1376	0.65297	0.0:1.0:0.0:0.0	.	137	O14842	FFAR1_HUMAN	Y	137	ENSP00000246553:H137Y	ENSP00000246553:H137Y	H	+	1	0	FFAR1	40534703	1.000000	0.71417	1.000000	0.80357	0.481000	0.33189	6.386000	0.73186	2.171000	0.68590	0.561000	0.74099	CAC		0.657	FFAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466112.2	NM_005303		16	48	0	0	0	1	0	16	48					T	35842863	C	T	35842863	3	4	445	1	0	0	0	0	1	0	0	0	5827	826	29	2	411	2	FFAR1	19	35842863	Missense_Mutation	SNP	C	TCGA-FY-A4B0-01A-21D-A23U-08	25232463	35842863	23286120	21	9092											
IL28A	282616	broad.mit.edu	37	chr19	39759357	39759357	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgctggtgctgatggcCgcagtgctgaccgtgactgg	16	11	0	3			TCGA-FY-A4B0-01A-21D-A23U-08	TCGA-FY-A4B0-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c5369c0-0005-4ca1-b5c7-0f44174f556b	fadf7923-0df0-4bd1-bc7a-707eb8181477	g.chr19:39759357C>T	ENST00000331982.5	+	2	106	c.51C>T	c.(49-51)gcC>gcT	p.A17A		NM_172138.1	NP_742150.1	Q8IZJ0	IFNL2_HUMAN	interferon, lambda 2	17					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|mucosal immune response (GO:0002385)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											TGCTGATGGCCGCAGTGCTGA	0.637																																						ENST00000331982.5																			0											c.(49-51)gcC>gcT		interferon, lambda 2							54	58	57					19																	39759357		2199	4300	6499	SO:0001819	synonymous_variant	282616							g.chr19:39759357C>T	AY129148	CCDS42567.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000183709	ENSG00000183709		"Interferons"	18364	protein-coding gene	gene with protein product		607401	"interleukin 28A", "interleukin 28A (interferon, lambda 2)"	IL28A			Standard	NM_172138		Approved	IL-28A	uc002oku.1	Q8IZJ0		ENST00000331982.5:c.51C>T	19.37:g.39759357C>T							p.A17A	NM_172138.1	NP_742150.1					2	106	+								Q45KQ8|Q6VN55|Q8IWL7	Silent	SNP	ENST00000331982.5	37	c.51C>T	CCDS42567.1																																																																																				0.637	IFNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463833.1	NM_172138		7	44	0	0	0	1	0	7	44					T	39759357	C	T	39759357	2	4	445	1	0	0	0	0	0	0	0	1	7682	639	23	1		1	IL28A	19	39759357	Silent	SNP	C	TCGA-FY-A4B0-01A-21D-A23U-08	3916494	39759357	19369626	22	9093											
TMEM143	55260	broad.mit.edu	37	chr19	48866617	48866617	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgcggtactgctgggcccaGtcgcggggctccctggggtt	17	13	0	0			TCGA-FY-A4B0-01A-21D-A23U-08	TCGA-FY-A4B0-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c5369c0-0005-4ca1-b5c7-0f44174f556b	fadf7923-0df0-4bd1-bc7a-707eb8181477	g.chr19:48866617G>T	ENST00000293261.3	-	2	511	c.195C>A	c.(193-195)gaC>gaA	p.D65E	SYNGR4_ENST00000344846.2_5'Flank|TMEM143_ENST00000435956.3_Missense_Mutation_p.D65E|TMEM143_ENST00000436660.2_Missense_Mutation_p.D65E|TMEM143_ENST00000541566.1_Intron|TMEM143_ENST00000377431.2_Missense_Mutation_p.D65E|TMEM143_ENST00000598012.1_5'UTR	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	65					hematopoietic progenitor cell differentiation (GO:0002244)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		GCTGGGCCCAGTCGCGGGGCT	0.667																																						ENST00000293261.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14						c.(193-195)gaC>gaA		transmembrane protein 143							35	42	39					19																	48866617		2203	4298	6501	SO:0001583	missense	55260					integral to membrane|mitochondrion		g.chr19:48866617G>T	AK129801	CCDS12716.1	19q13.32	2008-02-05				ENSG00000161558			25603	protein-coding gene	gene with protein product						12975309	Standard	NM_018273		Approved	FLJ10922	uc002pix.1	Q96AN5		ENST00000293261.3:c.195C>A	19.37:g.48866617G>T	ENSP00000293261:p.Asp65Glu					TMEM143_ENST00000541566.1_Intron|TMEM143_ENST00000598012.1_5'UTR|TMEM143_ENST00000436660.2_Missense_Mutation_p.D65E|TMEM143_ENST00000435956.3_Missense_Mutation_p.D65E|TMEM143_ENST00000377431.2_Missense_Mutation_p.D65E	p.D65E	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)	2	511	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)	65					A8K656|Q6UXY4|Q9NV49	Missense_Mutation	SNP	ENST00000293261.3	37	c.195C>A	CCDS12716.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.004205	0.74932	.	.	ENSG00000161558	ENST00000293261;ENST00000377431;ENST00000435956;ENST00000436660	T;T	0.53857	0.72;0.6	5.56	0.861	0.19048	.	0.332477	0.27604	N	0.018625	T	0.35537	0.0935	N	0.24115	0.695	0.25190	N	0.990132	B;D;B;P;P	0.54207	0.003;0.965;0.031;0.682;0.457	B;P;B;B;B	0.47044	0.004;0.535;0.019;0.129;0.129	T	0.27088	-1.0084	10	0.62326	D	0.03	-7.255	1.825	0.03119	0.2283:0.1387:0.4901:0.143	.	65;65;65;65;65	B4DG49;B4DPF8;Q96AN5-2;B4DMT0;Q96AN5	.;.;.;.;TM143_HUMAN	E	65	ENSP00000293261:D65E;ENSP00000397038:D65E	ENSP00000293261:D65E	D	-	3	2	TMEM143	53558429	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	0.350000	0.20079	0.091000	0.17302	0.561000	0.74099	GAC		0.667	TMEM143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465622.1	NM_018273		9	30	1	0	3.86212e-05	1	3.97247e-05	9	30					T	48866617	G	T	48866617	3	4	445	1	0	0	0	0	1	0	0	0	16054	1020	36	4	1212	4	TMEM143	19	48866617	Missense_Mutation	SNP	G	TCGA-FY-A4B0-01A-21D-A23U-08	9107260	48866617	10262366	23	9094											
JMJD4	65094	broad.mit.edu	37	chr1	227922874	227922874	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aggagaaggcgcccggctccGagacgaaggctacccggccc	15	15	0	2	rs201975311	byFrequency	TCGA-FY-A4B3-01A-11D-A23U-08	TCGA-FY-A4B3-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbe5a458-6112-46da-bc88-5bf6467f73bb	f27473dd-f2e2-4039-a2f4-e60e8f59a93e	g.chr1:227922874G>C	ENST00000366758.3	-	1	238	c.239C>G	c.(238-240)tCg>tGg	p.S80W	SNAP47_ENST00000315781.5_5'UTR|JMJD4_ENST00000438896.2_Missense_Mutation_p.S80W|SNAP47_ENST00000366759.4_5'UTR|JMJD4_ENST00000485807.1_5'Flank|SNAP47_ENST00000366760.1_Intron	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	80										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				GCCCGGCTCCGAGACGAAGGC	0.711													G|||	4	0.000798722	0	0.0014	5008	,	,		13457	0		0.003	False		,,,				2504	0					ENST00000366758.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9						c.(238-240)tCg>tGg		jumonji domain containing 4		G	TRP/SER,TRP/SER,	1,4053		0,1,2026	4	6	5		239,239,	0.5	0.0	1		5	21,7991		0,21,3985	yes	missense,missense,utr-5	JMJD4,SNAP47	NM_001161465.1,NM_023007.2,NM_053052.3	177,177,	0,22,6011	CC,CG,GG		0.2621,0.0247,0.1823	possibly-damaging,possibly-damaging,	80/448,80/464,	227922874	22,12044	2027	4006	6033	SO:0001583	missense	65094							g.chr1:227922874G>C	AK022579	CCDS1561.1, CCDS59203.1	1q42.13	2008-02-05			ENSG00000081692	ENSG00000081692			25724	protein-coding gene	gene with protein product						12477932	Standard	NM_023007		Approved	FLJ12517	uc001hrb.3	Q9H9V9	OTTHUMG00000037698	ENST00000366758.3:c.239C>G	1.37:g.227922874G>C	ENSP00000355720:p.Ser80Trp					JMJD4_ENST00000438896.2_Missense_Mutation_p.S80W|SNAP47_ENST00000366759.4_5'UTR|SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000315781.5_5'UTR	p.S80W	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN			1	238	-		Prostate(94;0.0885)	80					Q5TBZ1|Q5TBZ6|Q9H970	Missense_Mutation	SNP	ENST00000366758.3	37	c.239C>G	CCDS1561.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.04|18.04	3.534856|3.534856	0.64972|0.64972	2.47E-4|2.47E-4	0.002621|0.002621	ENSG00000081692|ENSG00000081692	ENST00000438896|ENST00000366758	.|T	.|0.14266	.|2.52	4.5|4.5	0.459|0.459	0.16678|0.16678	.|.	.|0.518516	.|0.20991	.|N	.|0.082040	T|T	0.15392|0.15392	0.0371|0.0371	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	0.999999|0.999999	.|D;P	.|0.55385	.|0.971;0.951	.|P;P	.|0.59825	.|0.864;0.734	T|T	0.12293|0.12293	-1.0553|-1.0553	5|10	.|0.87932	.|D	.|0	-10.1325|-10.1325	11.0285|11.0285	0.47759|0.47759	0.0:0.0:0.5247:0.4753|0.0:0.0:0.5247:0.4753	.|.	.|80;80	.|Q9H9V9-2;Q9H9V9	.|.;JMJD4_HUMAN	G|W	73|80	.|ENSP00000355720:S80W	.|ENSP00000355720:S80W	R|S	-|-	1|2	2|0	JMJD4|JMJD4	225989497|225989497	0.029000|0.029000	0.19370|0.19370	0.001000|0.001000	0.08648|0.08648	0.004000|0.004000	0.04260|0.04260	1.399000|1.399000	0.34566|0.34566	0.208000|0.208000	0.20626|0.20626	0.542000|0.542000	0.68232|0.68232	CGG|TCG		0.711	JMJD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091970.1	NM_023007		7	5	0	0	0	1	0	7	5					C	227922874	G	C	227922874	3	2	446	1	0	0	0	0	1	0	0	0	7951	1059	37	4	1176	4	JMJD4	1	227922874	Missense_Mutation	SNP	G	TCGA-FY-A4B3-01A-11D-A23U-08		227922874	21327747	1	9095											
ZC3H15	55854	broad.mit.edu	37	chr2	187351112	187351113	+	Start_Codon_Ins	INS	-	-	C													tgccatctgtctccgcaatgINSccccccaagaaacaggctca					rs375523117		TCGA-FY-A4B3-01A-11D-A23U-08	TCGA-FY-A4B3-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbe5a458-6112-46da-bc88-5bf6467f73bb	f27473dd-f2e2-4039-a2f4-e60e8f59a93e	g.chr2:187351112_187351113insC	ENST00000337859.6	+	0	230_231				ZC3H15_ENST00000544130.1_5'UTR	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15						cytokine-mediated signaling pathway (GO:0019221)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			TCTCCGCAATGCCCCCCAAGAA	0.609																																						ENST00000337859.6																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15								zinc finger CCCH-type containing 15																																				SO:0001582	initiator_codon_variant	55854					cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding	g.chr2:187351112_187351113insC		CCDS42791.1	2q32.1	2012-07-05			ENSG00000065548	ENSG00000065548		"Zinc fingers, CCCH-type domain containing"	29528	protein-coding gene	gene with protein product	"likely ortholog of mouse immediate early response, erythropoietin 4"					10880228	Standard	NM_018471		Approved	LEREPO4	uc002upo.3	Q8WU90	OTTHUMG00000154251	ENST00000337859.6:c.9dupC	2.37:g.187351118_187351118dupC						ZC3H15_ENST00000544130.1_5'UTR		NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)		0	230_231	+								B4DMW2|D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	Translation_Start_Site	INS	ENST00000337859.6	37		CCDS42791.1																																																																																				0.609	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334547.2	NM_018471		2	4						2	4	---	---	---	---	C	187351113	-	C	187351112	7	5	446	1	0	1	1	0	0	0	0	0	17564	1319	46	0	5	0	ZC3H15	2	187351112	Start_Codon_Ins	INS	-	TCGA-FY-A4B3-01A-11D-A23U-08		187351112	55848261	2	9096											
MSL3L2	151507	broad.mit.edu	37	chr2	234774852	234774852	+	RNA	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	taagctgactctgggaagaaGtcatcgtggtattctgctaa	11	7	3	2			TCGA-FY-A4B3-01A-11D-A23U-08	TCGA-FY-A4B3-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbe5a458-6112-46da-bc88-5bf6467f73bb	f27473dd-f2e2-4039-a2f4-e60e8f59a93e	g.chr2:234774852G>C	ENST00000438684.1	-	0	1262					NR_024322.1		P0C860	MS3L2_HUMAN	male-specific lethal 3 homolog (Drosophila) pseudogene 1						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											CTGGGAAGAAGTCATCGTGGT	0.433																																						ENST00000438684.1																			0																				118	99	105					2																	234774852		692	1591	2283			0							g.chr2:234774852G>C	BI831020		2q37.1	2011-03-21	2011-03-21	2011-03-21	ENSG00000224287	ENSG00000224287			17837	pseudogene	pseudogene			"male-specific lethal 3-like 2 (Drosophila)"	MSL3L2			Standard	NR_024322		Approved		uc010znf.2	P0C860	OTTHUMG00000059126		2.37:g.234774852G>C								NR_024322.1						0	1262	-									RNA	SNP	ENST00000438684.1	37																																																																																						0.433	MSL3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000131002.2	NR_024322		19	32	0	0	0	1	0	19	32					C	234774852	G	C	234774852	1	2	446	0	1	0	0	0	0	0	0	0	9880	1020	36	4		4	MSL3L2	2	234774852	RNA	SNP	G	TCGA-FY-A4B3-01A-11D-A23U-08	47423740	234774852	8424521	3	9097											
ADAMTS16	170690	broad.mit.edu	37	chr5	5237086	5237086	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtatttctttttaagatcaGgacttatgcaaactctactg	6	7	3	1			TCGA-FY-A4B3-01A-11D-A23U-08	TCGA-FY-A4B3-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbe5a458-6112-46da-bc88-5bf6467f73bb	f27473dd-f2e2-4039-a2f4-e60e8f59a93e	g.chr5:5237086G>A	ENST00000274181.7	+	14	2166	c.2028G>A	c.(2026-2028)caG>caA	p.Q676Q	ADAMTS16_ENST00000513709.1_Intron	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	676	Cys-rich.				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						TTTAAGATCAGGACTTATGCA	0.353																																						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.(2026-2028)caG>caA		ADAM metallopeptidase with thrombospondin type 1 motif, 16							134	121	125					5																	5237086		1836	4084	5920	SO:0001819	synonymous_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5237086G>A	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.2028G>A	5.37:g.5237086G>A						ADAMTS16_ENST00000513709.1_Intron	p.Q676Q	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			14	2166	+			676			Cys-rich.		C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	c.2028G>A	CCDS43299.1																																																																																				0.353	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		7	31	0	0	0	1	0	7	31					A	5237086	G	A	5237086	2	1	446	1	0	0	0	0	0	0	0	1	261	991	35	2		2	ADAMTS16	5	5237086	Silent	SNP	G	TCGA-FY-A4B3-01A-11D-A23U-08		5237086	175678174	4	9098											
CDH6	1004	broad.mit.edu	37	chr5	31305327	31305327	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtatacccttaaagtggaagCctccaatccttatgttgagc	8	10	0	1			TCGA-FY-A4B3-01A-11D-A23U-08	TCGA-FY-A4B3-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbe5a458-6112-46da-bc88-5bf6467f73bb	f27473dd-f2e2-4039-a2f4-e60e8f59a93e	g.chr5:31305327C>A	ENST00000265071.2	+	7	1311	c.1046C>A	c.(1045-1047)gCc>gAc	p.A349D	CDH6_ENST00000514738.1_Missense_Mutation_p.A294D	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	349	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AAAGTGGAAGCCTCCAATCCT	0.463																																						ENST00000265071.2																			0				NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(1045-1047)gCc>gAc		cadherin 6, type 2, K-cadherin (fetal kidney)							93	90	91					5																	31305327		2203	4300	6503	SO:0001583	missense	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31305327C>A	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"Cadherins / Major cadherins"	1765	protein-coding gene	gene with protein product	"K-Cadherin"	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1046C>A	5.37:g.31305327C>A	ENSP00000265071:p.Ala349Asp					CDH6_ENST00000514738.1_Missense_Mutation_p.A294D	p.A349D	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN			7	1311	+			349			Cadherin 3.		A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	c.1046C>A	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630943	0.87660	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.58940	0.3;0.3	5.88	5.88	0.94601	Cadherin (5);Cadherin-like (1);	0.052391	0.85682	D	0.000000	D	0.84660	0.5521	H	0.96365	3.81	0.58432	D	0.999997	D;D	0.76494	0.999;0.997	D;D	0.72982	0.979;0.951	D	0.88700	0.3215	10	0.87932	D	0	.	20.2187	0.98312	0.0:1.0:0.0:0.0	.	349;349	P55285;P55285-2	CADH6_HUMAN;.	D	294;349	ENSP00000424843:A294D;ENSP00000265071:A349D	ENSP00000265071:A349D	A	+	2	0	CDH6	31341084	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.558000	0.67319	2.780000	0.95670	0.655000	0.94253	GCC		0.463	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		18	27	1	0	4.75885e-15	1	5.17875e-15	18	27					A	31305327	C	A	31305327	3	1	446	1	0	0	0	0	1	0	0	0	3114	739	26	4	1068	4	CDH6	5	31305327	Missense_Mutation	SNP	C	TCGA-FY-A4B3-01A-11D-A23U-08	26068241	31305327	149609933	5	9099											
GPR116	221395	broad.mit.edu	37	chr6	46826302	46826302	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagaatgaaaaccaggcgaTagaacagcatgaggcccagt	12	9	0	4			TCGA-FY-A4B3-01A-11D-A23U-08	TCGA-FY-A4B3-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbe5a458-6112-46da-bc88-5bf6467f73bb	f27473dd-f2e2-4039-a2f4-e60e8f59a93e	g.chr6:46826302T>C	ENST00000283296.7	-	17	3626	c.3338A>G	c.(3337-3339)tAt>tGt	p.Y1113C	GPR116_ENST00000265417.7_Missense_Mutation_p.Y1113C|GPR116_ENST00000545669.1_Missense_Mutation_p.Y542C|GPR116_ENST00000456426.2_Missense_Mutation_p.Y971C|GPR116_ENST00000362015.4_Missense_Mutation_p.Y1113C	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1113					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AACCAGGCGATAGAACAGCAT	0.517																																					NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(3337-3339)tAt>tGt		G protein-coupled receptor 116							48	49	49					6																	46826302		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46826302T>C	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.3338A>G	6.37:g.46826302T>C	ENSP00000283296:p.Tyr1113Cys					GPR116_ENST00000456426.2_Missense_Mutation_p.Y971C|GPR116_ENST00000265417.7_Missense_Mutation_p.Y1113C|GPR116_ENST00000362015.4_Missense_Mutation_p.Y1113C|GPR116_ENST00000545669.1_Missense_Mutation_p.Y542C	p.Y1113C	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		17	3626	-			1113					O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.3338A>G	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	T	17.17	3.320894	0.60634	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22	5.38	4.19	0.49359	GPCR, family 2-like (1);	0.240498	0.29486	N	0.012007	T	0.56426	0.1984	M	0.90759	3.145	0.50313	D	0.999864	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.66630	-0.5875	10	0.87932	D	0	-22.649	11.8232	0.52252	0.1314:0.0:0.0:0.8686	.	542;668;1113;971;1113	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	C	1113;1113;1113;971;484;1113;542	ENSP00000283296:Y1113C;ENSP00000354563:Y1113C;ENSP00000412866:Y971C;ENSP00000265417:Y1113C;ENSP00000441581:Y542C	ENSP00000265417:Y1113C	Y	-	2	0	GPR116	46934261	1.000000	0.71417	0.977000	0.42913	0.918000	0.54935	7.970000	0.88000	0.941000	0.37499	0.528000	0.53228	TAT		0.517	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		3	35	0	0	0	1	0	3	35					C	46826302	T	C	46826302	3	2	446	1	0	0	0	0	1	0	0	0	6633	1406	49	3	722	3	GPR116	6	46826302	Missense_Mutation	SNP	T	TCGA-FY-A4B3-01A-11D-A23U-08		46826302	124288765	6	9100											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FY-A4B3-01A-11D-A23U-08	TCGA-FY-A4B3-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbe5a458-6112-46da-bc88-5bf6467f73bb	f27473dd-f2e2-4039-a2f4-e60e8f59a93e	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		6	21	0	0	0	1	0	6	21					T	140453136	A	T	140453136	3	4	446	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FY-A4B3-01A-11D-A23U-08		140453136	18685527	7	9101											
EIF3E	3646	broad.mit.edu	37	chr8	109215251	109215251	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttaagtttcttctcaatattCatggccaacatctggcttct	5	10	5	0			TCGA-FY-A4B3-01A-11D-A23U-08	TCGA-FY-A4B3-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbe5a458-6112-46da-bc88-5bf6467f73bb	f27473dd-f2e2-4039-a2f4-e60e8f59a93e	g.chr8:109215251C>T	ENST00000220849.5	-	12	1322	c.1260G>A	c.(1258-1260)atG>atA	p.M420I	EIF3E_ENST00000519030.1_Missense_Mutation_p.M327I|EIF3E_ENST00000519517.1_5'Flank	NM_001568.2	NP_001559.1			eukaryotic translation initiation factor 3, subunit E										EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			TCTCAATATTCATGGCCAACA	0.398																																					GBM(15;360 410 8460 34179 52246)	ENST00000220849.5																		EIF3E/RSPO2(6)	0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1258-1260)atG>atA		eukaryotic translation initiation factor 3, subunit E							153	139	144					8																	109215251		2203	4300	6503	SO:0001583	missense	3646				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding	g.chr8:109215251C>T	U94175	CCDS6308.1	8q22-q23	2010-03-10	2007-07-27	2007-07-27	ENSG00000104408	ENSG00000104408			3277	protein-coding gene	gene with protein product		602210	"eukaryotic translation initiation factor 3, subunit 6 48kDa"	INT6, EIF3S6		9403073, 9295280	Standard	NM_001568		Approved	eIF3-p48, eIF3e	uc003ymu.3	P60228	OTTHUMG00000164858	ENST00000220849.5:c.1260G>A	8.37:g.109215251C>T	ENSP00000220849:p.Met420Ile					EIF3E_ENST00000519030.1_Missense_Mutation_p.M327I	p.M420I	NM_001568.2	NP_001559.1	P60228	EIF3E_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)		12	1322	-			420			Sufficient for interaction with MCM7.			Missense_Mutation	SNP	ENST00000220849.5	37	c.1260G>A	CCDS6308.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.75|13.75	2.329402|2.329402	0.41197|0.41197	.|.	.|.	ENSG00000104408|ENSG00000104408	ENST00000522352|ENST00000220849;ENST00000519030	.|T;T	.|0.41400	.|1.0;1.0	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	.|0.035831	.|0.85682	.|D	.|0.000000	T|T	0.32793|0.32793	0.0841|0.0841	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|B	.|0.09022	.|0.002	.|B	.|0.06405	.|0.002	T|T	0.07712|0.07712	-1.0758|-1.0758	5|10	.|0.20046	.|T	.|0.44	-21.1765|-21.1765	19.8276|19.8276	0.96624|0.96624	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|420	.|P60228	.|EIF3E_HUMAN	K|I	131|420;327	.|ENSP00000220849:M420I;ENSP00000428796:M327I	.|ENSP00000220849:M420I	E|M	-|-	1|3	0|0	EIF3E|EIF3E	109284427|109284427	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.999000|5.999000	0.70665|0.70665	2.697000|2.697000	0.92050|0.92050	0.585000|0.585000	0.79938|0.79938	GAA|ATG		0.398	EIF3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380612.2	NM_001568		13	20	0	0	0	1	0	13	20					T	109215251	C	T	109215251	3	4	446	1	0	0	0	0	1	0	0	0	5015	826	29	2	85	2	EIF3E	8	109215251	Missense_Mutation	SNP	C	TCGA-FY-A4B3-01A-11D-A23U-08		109215251	37148771	8	9102											
FBXO10	26267	broad.mit.edu	37	chr9	37541400	37541400	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggccatggccaaggcactGcccaggctgtcaaactcacg	11	15	2	0			TCGA-FY-A4B3-01A-11D-A23U-08	TCGA-FY-A4B3-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbe5a458-6112-46da-bc88-5bf6467f73bb	f27473dd-f2e2-4039-a2f4-e60e8f59a93e	g.chr9:37541400G>A	ENST00000432825.2	-	2	414	c.366C>T	c.(364-366)ggC>ggT	p.G122G	RP11-613M10.8_ENST00000537239.2_3'UTR|RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Intron	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	122					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		CCAAGGCACTGCCCAGGCTGT	0.552																																						ENST00000432825.2																			0				breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(364-366)ggC>ggT		F-box protein 10							119	122	121					9																	37541400		2054	4201	6255	SO:0001819	synonymous_variant	26267					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr9:37541400G>A	AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"F-boxes /  "other""	13589	protein-coding gene	gene with protein product		609092	"F-box only protein 10"			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.366C>T	9.37:g.37541400G>A						FBXO10_ENST00000541829.1_Intron|RP11-613M10.8_ENST00000544475.1_5'UTR|RP11-613M10.8_ENST00000537239.2_3'UTR	p.G122G	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN		GBM - Glioblastoma multiforme(29;0.0107)	2	414	-			122					Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Silent	SNP	ENST00000432825.2	37	c.366C>T	CCDS47966.1																																																																																				0.552	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3			5	109	0	0	0	1	0	5	109					A	37541400	G	A	37541400	2	1	446	1	0	0	0	0	0	0	0	1	5726	1306	46	2		2	FBXO10	9	37541400	Silent	SNP	G	TCGA-FY-A4B3-01A-11D-A23U-08		37541400	103672031	9	9103											
C9orf9	11092	broad.mit.edu	37	chr9	135763731	135763731	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgaggcccggaaccactaCggcggcgtggtcagcctcat	14	14	2	0	rs537630425		TCGA-FY-A4B3-01A-11D-A23U-08	TCGA-FY-A4B3-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbe5a458-6112-46da-bc88-5bf6467f73bb	f27473dd-f2e2-4039-a2f4-e60e8f59a93e	g.chr9:135763731C>T	ENST00000372136.3	+	4	849	c.402C>T	c.(400-402)taC>taT	p.Y134Y	C9orf9_ENST00000356311.5_Silent_p.Y134Y|C9orf9_ENST00000350499.6_Silent_p.Y134Y			Q96E40	CI009_HUMAN	chromosome 9 open reading frame 9	134						cytoplasmic microtubule (GO:0005881)		p.?(1)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06)		GGAACCACTACGGCGGCGTGG	0.607																																						ENST00000372136.3																			1	Unknown(1)	p.?(1)	bone(1)	cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(400-402)taC>taT		chromosome 9 open reading frame 9							90	73	79					9																	135763731		2203	4300	6503	SO:0001819	synonymous_variant	11092							g.chr9:135763731C>T		CCDS6955.1	9q34.13	2012-03-06			ENSG00000165698	ENSG00000165698			1367	protein-coding gene	gene with protein product							Standard	NM_018956		Approved		uc004cby.1	Q96E40	OTTHUMG00000020847	ENST00000372136.3:c.402C>T	9.37:g.135763731C>T						C9orf9_ENST00000350499.6_Silent_p.Y134Y|C9orf9_ENST00000356311.5_Silent_p.Y134Y	p.Y134Y			Q96E40	CI009_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06)	4	849	+			134					Q9UGQ0	Silent	SNP	ENST00000372136.3	37	c.402C>T																																																																																					0.607	C9orf9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000054806.1	NM_018956		18	48	0	0	0	1	0	18	48					T	135763731	C	T	135763731	2	4	446	1	0	0	0	0	0	0	0	1	2504	547	19	1		1	C9orf9	9	135763731	Silent	SNP	C	TCGA-FY-A4B3-01A-11D-A23U-08	98222331	135763731	5449700	10	9104											
AGPAT2	10555	broad.mit.edu	37	chr9	139581702	139581702	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acggcggacaccgtgaagcaCagcgcgcagtacagggcgac	15	13	0	1			TCGA-FY-A4B3-01A-11D-A23U-08	TCGA-FY-A4B3-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbe5a458-6112-46da-bc88-5bf6467f73bb	f27473dd-f2e2-4039-a2f4-e60e8f59a93e	g.chr9:139581702C>A	ENST00000371696.2	-	1	173	c.108G>T	c.(106-108)ctG>ctT	p.L36L	AGPAT2_ENST00000538402.1_Silent_p.L36L|AGPAT2_ENST00000371694.3_Silent_p.L36L	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	36					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)		CCGTGAAGCACAGCGCGCAGT	0.726																																						ENST00000371696.2																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6						c.(106-108)ctG>ctT		1-acylglycerol-3-phosphate O-acyltransferase 2							18	21	20					9																	139581702		1985	4005	5990	SO:0001819	synonymous_variant	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.chr9:139581702C>A	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.108G>T	9.37:g.139581702C>A						AGPAT2_ENST00000538402.1_Silent_p.L36L|AGPAT2_ENST00000371694.3_Silent_p.L36L	p.L36L	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)	1	173	-	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)	36					O00516|O15106|Q5VUD3|Q5VUD4|Q9BSV7|Q9BWR7	Silent	SNP	ENST00000371696.2	37	c.108G>T	CCDS7003.1																																																																																				0.726	AGPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055090.1	NM_006412		7	35	1	0	0.000274275	1	0.000281894	7	35					A	139581702	C	A	139581702	2	1	446	1	0	0	0	0	0	0	0	1	387	465	17	4		4	AGPAT2	9	139581702	Silent	SNP	C	TCGA-FY-A4B3-01A-11D-A23U-08	3817971	139581702	1631729	11	9105											
CCDC67	159989	broad.mit.edu	37	chr11	93088558	93088558	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acttctccttgtgaggctgaGcttcaggaattaatggaaca	10	8	2	2			TCGA-FY-A4B3-01A-11D-A23U-08	TCGA-FY-A4B3-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbe5a458-6112-46da-bc88-5bf6467f73bb	f27473dd-f2e2-4039-a2f4-e60e8f59a93e	g.chr11:93088558G>C	ENST00000298050.3	+	3	151	c.51G>C	c.(49-51)gaG>gaC	p.E17D	CCDC67_ENST00000530053.1_3'UTR|CCDC67_ENST00000527307.1_Missense_Mutation_p.E17D	NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	17					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				GTGAGGCTGAGCTTCAGGAAT	0.378																																						ENST00000298050.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(49-51)gaG>gaC		coiled-coil domain containing 67							103	100	101					11																	93088558		1852	4087	5939	SO:0001583	missense	159989							g.chr11:93088558G>C	AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.51G>C	11.37:g.93088558G>C	ENSP00000298050:p.Glu17Asp					CCDC67_ENST00000527307.1_Missense_Mutation_p.E17D|CCDC67_ENST00000530053.1_3'UTR	p.E17D	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN			3	151	+		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)	17					Q8NEF1|Q96LL7	Missense_Mutation	SNP	ENST00000298050.3	37	c.51G>C	CCDS44707.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881241	0.72294	.	.	ENSG00000165325	ENST00000534747;ENST00000298050;ENST00000532819;ENST00000527307	T;T;T;T	0.26957	1.7;1.7;1.7;1.7	5.54	1.49	0.22878	.	0.000000	0.56097	D	0.000021	T	0.44808	0.1311	M	0.71206	2.165	0.32877	D	0.509997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	T	0.54899	-0.8224	10	0.66056	D	0.02	.	8.739	0.34545	0.5578:0.0:0.4422:0.0	.	17;17;9	Q05D60;E9PJR5;Q6ZRU6	CCD67_HUMAN;.;.	D	17	ENSP00000432111:E17D;ENSP00000298050:E17D;ENSP00000434635:E17D;ENSP00000433002:E17D	ENSP00000298050:E17D	E	+	3	2	CCDC67	92728206	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	1.102000	0.31050	0.023000	0.15187	0.491000	0.48974	GAG		0.378	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181645		8	52	0	0	0	1	0	8	52					C	93088558	G	C	93088558	3	2	446	1	0	0	0	0	1	0	0	0	2839	962	34	4	57	4	CCDC67	11	93088558	Missense_Mutation	SNP	G	TCGA-FY-A4B3-01A-11D-A23U-08		93088558	41917958	12	9106											
BRAP	8315	broad.mit.edu	37	chr12	112103497	112103497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagctgtggttacataacGttgtgaggatgccattcaca	12	7	1	1			TCGA-FY-A4B3-01A-11D-A23U-08	TCGA-FY-A4B3-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbe5a458-6112-46da-bc88-5bf6467f73bb	f27473dd-f2e2-4039-a2f4-e60e8f59a93e	g.chr12:112103497G>A	ENST00000327551.6	-	6	892	c.752C>T	c.(751-753)aCg>aTg	p.T251M	BRAP_ENST00000539060.1_Missense_Mutation_p.T102M|BRAP_ENST00000419234.4_Missense_Mutation_p.T281M			Q6UWU4	CF089_HUMAN	BRCA1 associated protein	0					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						GTTACATAACGTTGTGAGGAT	0.582																																					Pancreas(146;846 1904 7830 25130 26065)	ENST00000419234.4																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						c.(841-843)aCg>aTg		BRCA1 associated protein							158	103	122					12																	112103497		2203	4300	6503	SO:0001583	missense	8315				MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:112103497G>A	AF035620	CCDS9154.1	12q24.12	2014-09-11			ENSG00000089234	ENSG00000089234		"RING-type (C3HC4) zinc fingers"	1099	protein-coding gene	gene with protein product	"impedes mitogenic signal propagation", "galectin-2-binding protein"	604986				9497340, 19198608	Standard	XM_005253944		Approved	BRAP2, RNF52, IMP	uc001tsn.4	Q7Z569	OTTHUMG00000169600	ENST00000327551.6:c.752C>T	12.37:g.112103497G>A	ENSP00000330813:p.Thr251Met					BRAP_ENST00000539060.1_Missense_Mutation_p.T102M|BRAP_ENST00000327551.6_Missense_Mutation_p.T251M	p.T281M	NM_006768.3	NP_006759.3	Q7Z569	BRAP_HUMAN			6	1035	-			281					B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	ENST00000327551.6	37	c.842C>T		.	.	.	.	.	.	.	.	.	.	G	20.9	4.061811	0.76187	.	.	ENSG00000089234	ENST00000419234;ENST00000539060;ENST00000327551;ENST00000547043	T;T;T	0.47177	0.85;0.85;0.85	5.22	5.22	0.72569	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.60676	0.2287	L	0.33245	0.995	0.80722	D	1	D;D	0.89917	1.0;0.988	D;P	0.83275	0.996;0.721	T	0.63550	-0.6612	10	0.62326	D	0.03	-14.9971	18.7631	0.91860	0.0:0.0:1.0:0.0	.	102;281	B4DRM1;Q7Z569	.;BRAP_HUMAN	M	281;102;251;63	ENSP00000403524:T281M;ENSP00000441659:T102M;ENSP00000330813:T251M	ENSP00000330813:T251M	T	-	2	0	BRAP	110587880	1.000000	0.71417	0.943000	0.38184	0.885000	0.51271	9.276000	0.95745	2.431000	0.82371	0.305000	0.20034	ACG		0.582	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404994.2			3	52	0	0	0	1	0	3	52					A	112103497	G	A	112103497	3	1	446	1	0	0	0	0	1	0	0	0	1497	1145	40	1	964	1	BRAP	12	112103497	Missense_Mutation	SNP	G	TCGA-FY-A4B3-01A-11D-A23U-08		112103497	21748398	13	9107											
TSC2	7249	broad.mit.edu	37	chr16	2098652	2098652	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaaagattcaggcttgaaGgagaagtttaagattctgtt	11	4	2	4			TCGA-FY-A4B3-01A-11D-A23U-08	TCGA-FY-A4B3-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbe5a458-6112-46da-bc88-5bf6467f73bb	f27473dd-f2e2-4039-a2f4-e60e8f59a93e	g.chr16:2098652G>A	ENST00000219476.3	+	2	666	c.36G>A	c.(34-36)aaG>aaA	p.K12K	TSC2_ENST00000568454.1_Silent_p.K23K|TSC2_ENST00000353929.4_Silent_p.K12K|TSC2_ENST00000401874.2_Silent_p.K12K|TSC2_ENST00000382538.6_Intron|NTHL1_ENST00000219066.1_5'Flank|TSC2_ENST00000350773.4_Silent_p.K12K|TSC2_ENST00000439673.2_Silent_p.K12K	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	12	Required for interaction with TSC1.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CAGGCTTGAAGGAGAAGTTTA	0.502			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"D, Mis, N, F, S"	tuberous sclerosis 2 gene			"E, O"		"hamartoma, renal cell"			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(34-36)aaG>aaA		tuberous sclerosis 2							122	111	115					16																	2098652		2196	4299	6495	SO:0001819	synonymous_variant	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2098652G>A	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.36G>A	16.37:g.2098652G>A						TSC2_ENST00000568454.1_Silent_p.K23K|TSC2_ENST00000350773.4_Silent_p.K12K|TSC2_ENST00000439673.2_Silent_p.K12K|TSC2_ENST00000353929.4_Silent_p.K12K|TSC2_ENST00000382538.6_Intron|TSC2_ENST00000401874.2_Silent_p.K12K	p.K12K	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			2	666	+		Hepatocellular(780;0.0202)	12			Required for interaction with TSC1.		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	ENST00000219476.3	37	c.36G>A	CCDS10458.1																																																																																				0.502	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		3	43	0	0	0	1	0	3	43					A	2098652	G	A	2098652	2	1	446	1	0	0	0	0	0	0	0	1	16603	991	35	2		2	TSC2	16	2098652	Silent	SNP	G	TCGA-FY-A4B3-01A-11D-A23U-08		2098652	88256101	14	9108											
PPL	5493	broad.mit.edu	37	chr16	4935111	4935111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacttcactttccgccttgGggtctggccgcacgatctcc	9	17	3	0			TCGA-FY-A4B3-01A-11D-A23U-08	TCGA-FY-A4B3-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbe5a458-6112-46da-bc88-5bf6467f73bb	f27473dd-f2e2-4039-a2f4-e60e8f59a93e	g.chr16:4935111G>A	ENST00000345988.2	-	22	3634	c.3545C>T	c.(3544-3546)cCc>cTc	p.P1182L	PPL_ENST00000590782.2_Missense_Mutation_p.P1180L	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1182					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TTCCGCCTTGGGGTCTGGCCG	0.622																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(3544-3546)cCc>cTc		periplakin							95	88	90					16																	4935111		2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4935111G>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3545C>T	16.37:g.4935111G>A	ENSP00000340510:p.Pro1182Leu					PPL_ENST00000590782.2_Missense_Mutation_p.P1180L	p.P1182L	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			22	3634	-			1182					O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.3545C>T	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187242	0.57909	.	.	ENSG00000118898	ENST00000345988	T	0.79749	-1.3	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.90889	0.7137	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91097	0.4911	10	0.59425	D	0.04	.	19.7311	0.96182	0.0:0.0:1.0:0.0	.	1182	O60437	PEPL_HUMAN	L	1182	ENSP00000340510:P1182L	ENSP00000340510:P1182L	P	-	2	0	PPL	4875112	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	9.827000	0.99397	2.677000	0.91161	0.561000	0.74099	CCC		0.622	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		31	64	0	0	0	1	0	31	64					A	4935111	G	A	4935111	3	1	446	1	0	0	0	0	1	0	0	0	12334	1232	43	2	1729	2	PPL	16	4935111	Missense_Mutation	SNP	G	TCGA-FY-A4B3-01A-11D-A23U-08	2836459	4935111	85419642	15	9109											
PRR12	57479	broad.mit.edu	37	chr19	50097869	50097869	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccgcagtccttcctggcaaAcaggtaagcccagcgccggc	11	16	0	0			TCGA-FY-A4B3-01A-11D-A23U-08	TCGA-FY-A4B3-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbe5a458-6112-46da-bc88-5bf6467f73bb	f27473dd-f2e2-4039-a2f4-e60e8f59a93e	g.chr19:50097869A>G	ENST00000418929.2	+	3	370	c.358A>G	c.(358-360)Aca>Gca	p.T120A		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TTCCTGGCAAACAGGTAAGCC	0.667																																						ENST00000418929.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(358-360)Aca>Gca		proline rich 12							30	35	34					19																	50097869		1930	4118	6048	SO:0001583	missense	57479						DNA binding	g.chr19:50097869A>G	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.358A>G	19.37:g.50097869A>G	ENSP00000394510:p.Thr120Ala						p.T120A	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	3	370	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	534			Pro-rich.		E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	c.358A>G	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	A	13.37	2.216154	0.39201	.	.	ENSG00000126464	ENST00000418929	.	.	.	4.65	4.65	0.58169	.	.	.	.	.	T	0.77130	0.4085	.	.	.	0.37193	D	0.904039	D	0.71674	0.998	D	0.80764	0.994	T	0.82026	-0.0661	7	0.51188	T	0.08	.	13.1947	0.59732	1.0:0.0:0.0:0.0	.	120	Q9ULL5-3	.	A	120	.	ENSP00000394510:T120A	T	+	1	0	PRR12	54789681	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	8.284000	0.89912	1.959000	0.56917	0.460000	0.39030	ACA		0.667	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		16	36	0	0	0	1	0	16	36					G	50097869	A	G	50097869	3	3	446	1	0	0	0	0	1	0	0	0	12584	43	2	3	368	3	PRR12	19	50097869	Missense_Mutation	SNP	A	TCGA-FY-A4B3-01A-11D-A23U-08		50097869	9031114	16	9110											
KCNC3	3748	broad.mit.edu	37	chr19	50827018	50827018	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cttggagctgaggcccgagaGgcccacctcgagatagaagg	15	11	0	4			TCGA-FY-A4B3-01A-11D-A23U-08	TCGA-FY-A4B3-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbe5a458-6112-46da-bc88-5bf6467f73bb	f27473dd-f2e2-4039-a2f4-e60e8f59a93e	g.chr19:50827018G>C	ENST00000477616.1	-	2	1486	c.1192C>G	c.(1192-1194)Ctc>Gtc	p.L398V	KCNC3_ENST00000376959.2_Missense_Mutation_p.L398V|KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000474951.1_Intron	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	398					cell death (GO:0008219)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axolemma (GO:0030673)|axon terminus (GO:0043679)|dendrite membrane (GO:0032590)|neuromuscular junction (GO:0031594)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	Dalfampridine(DB06637)	AGGCCCGAGAGGCCCACCTCG	0.597																																					Melanoma(91;1496 2324 50908)	ENST00000376959.2																			0				endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13						c.(1192-1194)Ctc>Gtc		potassium voltage-gated channel, Shaw-related subfamily, member 3							98	95	96					19																	50827018		2203	4300	6503	SO:0001583	missense	3748				cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:50827018G>C	AB208930	CCDS12793.1	19q13.33	2014-09-17			ENSG00000131398	ENSG00000131398		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6235	protein-coding gene	gene with protein product		176264	"spinocerebellar ataxia 13"	SCA13		1740329, 8111118, 16382104	Standard	NM_004977		Approved	Kv3.3	uc002pru.1	Q14003	OTTHUMG00000044580	ENST00000477616.1:c.1192C>G	19.37:g.50827018G>C	ENSP00000434241:p.Leu398Val					KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000477616.1_Missense_Mutation_p.L398V|KCNC3_ENST00000391818.2_Intron	p.L398V			Q14003	KCNC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	2	1355	-		all_neural(266;0.057)|Ovarian(192;0.208)	398						Missense_Mutation	SNP	ENST00000477616.1	37	c.1192C>G	CCDS12793.1	.	.	.	.	.	.	.	.	.	.	g	11.80	1.746783	0.30955	.	.	ENSG00000131398	ENST00000376959;ENST00000477616;ENST00000443843	D;D	0.98777	-5.13;-5.13	2.86	0.683	0.17998	Ion transport (1);	0.119748	0.34338	U	0.004053	D	0.97826	0.9286	L	0.38692	1.165	0.80722	D	1	D;P	0.71674	0.998;0.747	D;P	0.91635	0.999;0.678	D	0.96010	0.9001	10	0.52906	T	0.07	.	8.3161	0.32102	0.2336:0.0:0.7664:0.0	.	398;398	Q14003;E7ETH1	KCNC3_HUMAN;.	V	398;398;212	ENSP00000366158:L398V;ENSP00000434241:L398V	ENSP00000366158:L398V	L	-	1	0	KCNC3	55518830	1.000000	0.71417	0.998000	0.56505	0.821000	0.46438	5.470000	0.66756	0.543000	0.28864	-0.436000	0.05848	CTC		0.597	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314288.2	NM_004977		5	46	0	0	0	1	0	5	46					C	50827018	G	C	50827018	3	2	446	1	0	0	0	0	1	0	0	0	8016	1000	35	4	1093	4	KCNC3	19	50827018	Missense_Mutation	SNP	G	TCGA-FY-A4B3-01A-11D-A23U-08	729149	50827018	8301965	17	9111											
HEXB	3074	broad.mit.edu	37	chr5	74001087	74001087	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taatgttcttcactggcacaTagttgatgaccagtctttcc	7	10	3	2			TCGA-FY-A4B4-01A-11D-A23U-08	TCGA-FY-A4B4-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8356de8c-a93f-4dc6-8db0-31fefb435baf	535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d	g.chr5:74001087T>C	ENST00000261416.7	+	6	830	c.713T>C	c.(712-714)aTa>aCa	p.I238T	HEXB_ENST00000511181.1_Missense_Mutation_p.I13T	NM_000521.3	NP_000512	P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	238					astrocyte cell migration (GO:0043615)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|ganglioside catabolic process (GO:0006689)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|lipid storage (GO:0019915)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|male courtship behavior (GO:0008049)|myelination (GO:0042552)|neuromuscular process controlling balance (GO:0050885)|oligosaccharide catabolic process (GO:0009313)|oogenesis (GO:0048477)|penetration of zona pellucida (GO:0007341)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.I238K(1)		endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		CACTGGCACATAGTTGATGAC	0.328																																					Melanoma(66;841 1270 13391 18706 27225)	ENST00000511181.1																			1	Substitution - Missense(1)	p.I238K(1)	kidney(1)	endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(37-39)aTa>aCa		hexosaminidase B (beta polypeptide)							149	143	145					5																	74001087		2203	4300	6503	SO:0001583	missense	3074				cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity	g.chr5:74001087T>C	M13519	CCDS4022.1	5q13.3	2012-10-02			ENSG00000049860	ENSG00000049860	3.2.1.52		4879	protein-coding gene	gene with protein product		606873				2579389, 3013851	Standard	NM_000521		Approved		uc003kdf.4	P07686	OTTHUMG00000102057	ENST00000261416.7:c.713T>C	5.37:g.74001087T>C	ENSP00000261416:p.Ile238Thr					HEXB_ENST00000261416.7_Missense_Mutation_p.I238T	p.I13T			P07686	HEXB_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)	6	950	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)	238						Missense_Mutation	SNP	ENST00000261416.7	37	c.38T>C	CCDS4022.1	.	.	.	.	.	.	.	.	.	.	T	19.78	3.891870	0.72524	.	.	ENSG00000049860	ENST00000511181;ENST00000261416	D;D	0.96265	-3.96;-3.96	5.81	5.81	0.92471	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);Glycoside hydrolase, family 20 (1);	0.040834	0.85682	D	0.000000	D	0.98924	0.9635	H	0.97806	4.08	0.80722	D	1	D	0.71674	0.998	D	0.91635	0.999	D	0.99482	1.0948	10	0.87932	D	0	-12.6011	16.1708	0.81812	0.0:0.0:0.0:1.0	.	238	P07686	HEXB_HUMAN	T	13;238	ENSP00000426285:I13T;ENSP00000261416:I238T	ENSP00000261416:I238T	I	+	2	0	HEXB	74036843	1.000000	0.71417	0.960000	0.40013	0.400000	0.30750	7.621000	0.83083	2.225000	0.72522	0.533000	0.62120	ATA		0.328	HEXB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219859.6	NM_000521		12	12	0	0	0	1	0	12	12					C	74001087	T	C	74001087	3	2	447	1	0	0	0	0	1	0	0	0	7074	1406	49	3	735	3	HEXB	5	74001087	Missense_Mutation	SNP	T	TCGA-FY-A4B4-01A-11D-A23U-08		74001087	106914173	1	9112											
EGFL8	80864	broad.mit.edu	37	chr6	32135007	32135007	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggggtccccagagcccccaAccagtgccagcatactcagc	10	17	1	1			TCGA-FY-A4B4-01A-11D-A23U-08	TCGA-FY-A4B4-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8356de8c-a93f-4dc6-8db0-31fefb435baf	535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d	g.chr6:32135007A>G	ENST00000395512.1	+	6	679	c.574A>G	c.(574-576)Acc>Gcc	p.T192A	AGPAT1_ENST00000490711.1_5'Flank|EGFL8_ENST00000333845.6_Missense_Mutation_p.T192A|PPT2-EGFL8_ENST00000422437.1_3'UTR			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	192						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						AGAGCCCCCAACCAGTGCCAG	0.662																																						ENST00000395512.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						c.(574-576)Acc>Gcc		EGF-like-domain, multiple 8							27	33	31					6																	32135007		1506	2706	4212	SO:0001583	missense	80864					extracellular region|integral to membrane	calcium ion binding	g.chr6:32135007A>G	U89336	CCDS4743.1	6p21	2010-06-25	2003-05-21	2003-05-23	ENSG00000241404	ENSG00000241404			13944	protein-coding gene	gene with protein product		609897	"chromosome 6 open reading frame 8"	C6orf8			Standard	NM_030652		Approved	NG3		Q99944	OTTHUMG00000031222	ENST00000395512.1:c.574A>G	6.37:g.32135007A>G	ENSP00000378888:p.Thr192Ala					PPT2-EGFL8_ENST00000422437.1_3'UTR|EGFL8_ENST00000333845.6_Missense_Mutation_p.T192A	p.T192A			Q99944	EGFL8_HUMAN			6	679	+			192					B0S884|G5E9Q0|Q5JP23|Q5SSX3|Q8IV30	Missense_Mutation	SNP	ENST00000395512.1	37	c.574A>G	CCDS4743.1	.	.	.	.	.	.	.	.	.	.	A	5.454	0.268826	0.10349	.	.	ENSG00000241404	ENST00000333845;ENST00000395512;ENST00000432129	D;D;T	0.88818	-2.43;-2.43;2.13	5.88	0.804	0.18697	.	.	.	.	.	T	0.65291	0.2677	L	0.57536	1.79	0.09310	N	1	B	0.24483	0.104	B	0.22386	0.039	T	0.52275	-0.8597	9	0.07325	T	0.83	-4.2978	2.2222	0.03975	0.4337:0.3335:0.0878:0.1449	.	192	Q99944	EGFL8_HUMAN	A	192;192;172	ENSP00000333380:T192A;ENSP00000378888:T192A;ENSP00000401694:T172A	ENSP00000333380:T192A	T	+	1	0	EGFL8	32242985	0.002000	0.14202	0.031000	0.17742	0.176000	0.22953	0.713000	0.25794	0.470000	0.27294	0.482000	0.46254	ACC		0.662	EGFL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076463.3	NM_030652		15	41	0	0	0	1	0	15	41					G	32135007	A	G	32135007	3	3	447	1	0	0	0	0	1	0	0	0	4965	43	2	3	592	3	EGFL8	6	32135007	Missense_Mutation	SNP	A	TCGA-FY-A4B4-01A-11D-A23U-08		32135007	138980060	2	9113											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FY-A4B4-01A-11D-A23U-08	TCGA-FY-A4B4-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8356de8c-a93f-4dc6-8db0-31fefb435baf	535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		14	40	0	0	0	1	0	14	40					T	140453136	A	T	140453136	3	4	447	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FY-A4B4-01A-11D-A23U-08		140453136	18685527	3	9114											
DRD4	1815	broad.mit.edu	37	chr11	639803	639803	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggccgcgaccccgccgtgtGccgcctggaggaccgcgact	15	18	0	0			TCGA-FY-A4B4-01A-11D-A23U-08	TCGA-FY-A4B4-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8356de8c-a93f-4dc6-8db0-31fefb435baf	535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d	g.chr11:639803G>T	ENST00000176183.5	+	3	566	c.554G>T	c.(553-555)tGc>tTc	p.C185F		NM_000797.3	NP_000788.2	P21917	DRD4_HUMAN	dopamine receptor D4	185					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult locomotory behavior (GO:0008344)|arachidonic acid secretion (GO:0050482)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|cellular calcium ion homeostasis (GO:0006874)|circadian rhythm (GO:0007623)|dopamine metabolic process (GO:0042417)|dopamine receptor signaling pathway (GO:0007212)|fear response (GO:0042596)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein secretion (GO:0050709)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|olfactory learning (GO:0008355)|photoperiodism (GO:0009648)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of kinase activity (GO:0033674)|positive regulation of penile erection (GO:0060406)|positive regulation of sodium:proton antiporter activity (GO:0032417)|regulation of calcium-mediated signaling (GO:0050848)|regulation of circadian rhythm (GO:0042752)|regulation of dopamine metabolic process (GO:0042053)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of neurotransmitter secretion (GO:0046928)|response to amphetamine (GO:0001975)|response to histamine (GO:0034776)|response to steroid hormone (GO:0048545)|retina development in camera-type eye (GO:0060041)|short-term memory (GO:0007614)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)	cell cortex (GO:0005938)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|vesicle membrane (GO:0012506)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)|SH3 domain binding (GO:0017124)			NS(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Ziprasidone(DB00246)	CCCGCCGTGTGCCGCCTGGAG	0.711																																						ENST00000176183.5																			0				NS(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(553-555)tGc>tTc		dopamine receptor D4	Apomorphine(DB00714)|Clozapine(DB00363)|Olanzapine(DB00334)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Ropinirole(DB00268)|Thiethylperazine(DB00372)|Ziprasidone(DB00246)						43	32	36					11																	639803		2197	4297	6494	SO:0001583	missense	1815				activation of MAPK activity|adult locomotory behavior|arachidonic acid secretion|behavioral fear response|behavioral response to cocaine|behavioral response to ethanol|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of protein secretion|positive regulation of sodium:hydrogen antiporter activity|regulation of dopamine metabolic process|regulation of inhibitory postsynaptic membrane potential|response to amphetamine|response to histamine|social behavior	integral to plasma membrane	dopamine D4 receptor activity|drug binding|potassium channel regulator activity|SH3 domain binding	g.chr11:639803G>T	L12398	CCDS7710.1	11p15.5	2012-08-08			ENSG00000069696	ENSG00000069696		"GPCR / Class A : Dopamine receptors"	3025	protein-coding gene	gene with protein product		126452					Standard	NM_000797		Approved		uc001lqp.2	P21917	OTTHUMG00000133312	ENST00000176183.5:c.554G>T	11.37:g.639803G>T	ENSP00000176183:p.Cys185Phe						p.C185F	NM_000797.3	NP_000788.2	P21917	DRD4_HUMAN		all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	566	+		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	185					B0M0J7|Q7Z7Q5|Q8NGM5	Missense_Mutation	SNP	ENST00000176183.5	37	c.554G>T	CCDS7710.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.391083	0.42410	.	.	ENSG00000069696	ENST00000176183	T	0.62639	0.01	3.17	3.17	0.36434	GPCR, rhodopsin-like superfamily (1);	0.058704	0.64402	D	0.000001	T	0.77170	0.4091	.	.	.	0.80722	D	1	D	0.69078	0.997	D	0.70487	0.969	T	0.81504	-0.0903	9	0.87932	D	0	.	13.588	0.61942	0.0:0.0:1.0:0.0	.	185	P21917	DRD4_HUMAN	F	185	ENSP00000176183:C185F	ENSP00000176183:C185F	C	+	2	0	DRD4	629803	1.000000	0.71417	0.961000	0.40146	0.126000	0.20510	6.680000	0.74518	1.780000	0.52325	0.462000	0.41574	TGC		0.711	DRD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257109.1	NM_000797		11	24	1	0	1.5842e-08	1	1.66758e-08	11	24					T	639803	G	T	639803	3	4	447	1	0	0	0	0	1	0	0	0	4759	1319	46	4	564	4	DRD4	11	639803	Missense_Mutation	SNP	G	TCGA-FY-A4B4-01A-11D-A23U-08		639803	134366713	4	9115											
WEE1	7465	broad.mit.edu	37	chr11	9595595	9595597	+	In_Frame_Del	DEL	GAG	GAG	-													actgtgaggaggaggaagaaGaggaggaggaggagggcagc							TCGA-FY-A4B4-01A-11D-A23U-08	TCGA-FY-A4B4-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8356de8c-a93f-4dc6-8db0-31fefb435baf	535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d	g.chr11:9595595_9595597delGAG	ENST00000450114.2	+	1	368_370	c.115_117delGAG	c.(115-117)gagdel	p.E43del	WEE1_ENST00000299613.6_5'Flank	NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	43	Poly-Glu.				blood coagulation (GO:0007596)|establishment of cell polarity (GO:0030010)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuron projection morphogenesis (GO:0048812)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.E39delE(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		ggaggaagaagaggaggaggagg	0.739																																						ENST00000450114.2																			1	Deletion - In frame(1)	p.E39delE(1)	prostate(1)	breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23						c.(115-117)del		WEE1 G2 checkpoint kinase																																				SO:0001651	inframe_deletion	7465				blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity	g.chr11:9595595_9595597delGAG	X62048	CCDS7800.1, CCDS44536.1	11p15.4	2013-10-21	2013-10-21		ENSG00000166483	ENSG00000166483			12761	protein-coding gene	gene with protein product		193525	"wee1+ (S. pombe) homolog", "WEE1 homolog (S. pombe)"			1840647	Standard	NM_003390		Approved		uc001mhs.3	P30291	OTTHUMG00000165863	ENST00000450114.2:c.115_117delGAG	11.37:g.9595604_9595606delGAG	ENSP00000402084:p.Glu43del						p.E43del	NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN		all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)	1	368_370	+			43			Poly-Glu.		B3KVE1|D3DQV0	In_Frame_Del	DEL	ENST00000450114.2	37	c.115_117delGAG	CCDS7800.1																																																																																				0.739	WEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386757.1	NM_003390		2	4						2	4	---	---	---	---	-	9595597	GAG	-	9595595	7	5	447	1	0	1	0	1	0	0	0	0	17341	943	33	0	117	0	WEE1	11	9595595	In_Frame_Del	DEL	GAG	TCGA-FY-A4B4-01A-11D-A23U-08	8955792	9595595	125410921	5	9116											
OR4D11	219986	broad.mit.edu	37	chr11	59271735	59271735	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgacgctgaggtctcaggcAggagggggcaggaggaaagc	19	7	1	2			TCGA-FY-A4B4-01A-11D-A23U-08	TCGA-FY-A4B4-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8356de8c-a93f-4dc6-8db0-31fefb435baf	535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d	g.chr11:59271735A>C	ENST00000313253.1	+	1	687	c.687A>C	c.(685-687)gcA>gcC	p.A229A		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	229						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(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						GGTCTCAGGCAGGAGGGGGCA	0.527																																						ENST00000313253.1																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(685-687)gcA>gcC		olfactory receptor, family 4, subfamily D, member 11							184	173	176					11																	59271735		2201	4295	6496	SO:0001819	synonymous_variant	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271735A>C	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"GPCR / Class A : Olfactory receptors"	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.687A>C	11.37:g.59271735A>C							p.A229A	NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN			1	687	+			229						Silent	SNP	ENST00000313253.1	37	c.687A>C	CCDS31563.1																																																																																				0.527	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		72	114	0	0	0	1	0	72	114					C	59271735	A	C	59271735	2	2	447	1	0	0	0	0	0	0	0	1	11055	175	7	5		5	OR4D11	11	59271735	Silent	SNP	A	TCGA-FY-A4B4-01A-11D-A23U-08	49676140	59271735	75734781	6	9117											
KDM2A	22992	broad.mit.edu	37	chr11	67017761	67017761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accaccacagtgccagccgcGatgagcgcttcaaacggcgg	12	15	1	1			TCGA-FY-A4B4-01A-11D-A23U-08	TCGA-FY-A4B4-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8356de8c-a93f-4dc6-8db0-31fefb435baf	535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d	g.chr11:67017761G>A	ENST00000529006.2	+	17	2706	c.2260G>A	c.(2260-2262)Gat>Aat	p.D754N	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000530342.1_Missense_Mutation_p.D315N|KDM2A_ENST00000398645.2_Missense_Mutation_p.D754N|KDM2A_ENST00000308783.5_Missense_Mutation_p.D212N	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	754					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						TGCCAGCCGCGATGAGCGCTT	0.632																																						ENST00000529006.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						c.(2260-2262)Gat>Aat		lysine (K)-specific demethylase 2A							29	34	33					11																	67017761		1971	4143	6114	SO:0001583	missense	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:67017761G>A	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13606	protein-coding gene	gene with protein product	"F-box protein FBL11", "jumonji C domain-containing histone demethylase 1A"	605657	"F-box and leucine-rich repeat protein 11"	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.2260G>A	11.37:g.67017761G>A	ENSP00000432786:p.Asp754Asn					KDM2A_ENST00000530342.1_Missense_Mutation_p.D315N|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000308783.5_Missense_Mutation_p.D212N|KDM2A_ENST00000398645.2_Missense_Mutation_p.D754N	p.D754N	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN			17	2706	+			754					D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	ENST00000529006.2	37	c.2260G>A	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.596216	0.86953	.	.	ENSG00000173120	ENST00000398645;ENST00000529006;ENST00000530342;ENST00000446134;ENST00000308783	T;T;T;T	0.50813	0.73;0.96;0.96;0.96	6.02	6.02	0.97574	.	0.261162	0.44902	D	0.000409	T	0.41903	0.1179	L	0.50333	1.59	0.58432	D	0.999999	P;P	0.35011	0.48;0.48	B;B	0.21360	0.034;0.034	T	0.28299	-1.0048	10	0.38643	T	0.18	-16.4146	18.7178	0.91682	0.0:0.0:1.0:0.0	.	212;754	D4QA03;Q9Y2K7	.;KDM2A_HUMAN	N	754;754;315;315;212	ENSP00000381640:D754N;ENSP00000432786:D754N;ENSP00000435776:D315N;ENSP00000309302:D212N	ENSP00000309302:D212N	D	+	1	0	KDM2A	66774337	1.000000	0.71417	0.987000	0.45799	0.991000	0.79684	5.807000	0.69157	2.857000	0.98124	0.650000	0.86243	GAT		0.632	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		21	35	0	0	0	1	0	21	35					A	67017761	G	A	67017761	3	1	447	1	0	0	0	0	1	0	0	0	8124	1058	37	1	2322	1	KDM2A	11	67017761	Missense_Mutation	SNP	G	TCGA-FY-A4B4-01A-11D-A23U-08	7746026	67017761	67988755	7	9118											
C2CD3	26005	broad.mit.edu	37	chr11	73806316	73806316	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagcacactggattgagaGtgttgaactggaaagtagta	12	5	1	2			TCGA-FY-A4B4-01A-11D-A23U-08	TCGA-FY-A4B4-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8356de8c-a93f-4dc6-8db0-31fefb435baf	535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d	g.chr11:73806316G>A	ENST00000334126.7	-	17	3343	c.3117C>T	c.(3115-3117)caC>caT	p.H1039H	C2CD3_ENST00000313663.7_Silent_p.H1039H			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1039					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TGGATTGAGAGTGTTGAACTG	0.393																																						ENST00000334126.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.(3115-3117)caC>caT		C2 calcium-dependent domain containing 3							172	164	166					11																	73806316		2200	4293	6493	SO:0001819	synonymous_variant	26005					centrosome		g.chr11:73806316G>A	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.3117C>T	11.37:g.73806316G>A						C2CD3_ENST00000313663.7_Silent_p.H1039H	p.H1039H			Q4AC94	C2CD3_HUMAN			17	3343	-	Breast(11;4.16e-06)		1039					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Silent	SNP	ENST00000334126.7	37	c.3117C>T																																																																																					0.393	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		32	65	0	0	0	1	0	32	65					A	73806316	G	A	73806316	2	1	447	1	0	0	0	0	0	0	0	1	2154	1020	36	2		2	C2CD3	11	73806316	Silent	SNP	G	TCGA-FY-A4B4-01A-11D-A23U-08	6788555	73806316	61200200	8	9119											
AKAP11	11215	broad.mit.edu	37	chr13	42877273	42877273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaacctctctggttcacaGcataacaaaagatgctaagg	7	10	3	1			TCGA-FY-A4B4-01A-11D-A23U-08	TCGA-FY-A4B4-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8356de8c-a93f-4dc6-8db0-31fefb435baf	535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d	g.chr13:42877273G>A	ENST00000025301.2	+	8	4566	c.4391G>A	c.(4390-4392)aGc>aAc	p.S1464N		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1464				LDPYRNEVSQLYSFSTSLVHSITKDA -> CGPSVELSPWK WQTRCGREGNSWKRE (in Ref. 5; BAA92117). {ECO:0000305}.	intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CTGGTTCACAGCATAACAAAA	0.378																																						ENST00000025301.2																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56						c.(4390-4392)aGc>aAc		A kinase (PRKA) anchor protein 11							72	77	76					13																	42877273		2203	4300	6503	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42877273G>A	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	369	protein-coding gene	gene with protein product	"AKAP 220", "A-kinase anchoring protein, 220kDa", "protein kinase A anchoring protein 11", "protein phosphatase 1, regulatory subunit 44"	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.4391G>A	13.37:g.42877273G>A	ENSP00000025301:p.Ser1464Asn						p.S1464N	NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	4566	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	1464	LDPYRNEVSQLYSFSTSLVHSITKDA -> CGPSVELSPWK WQTRCGREGNSWKRE (in Ref. 5; BAA92117).				O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.4391G>A	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	G	4.941	0.174856	0.09391	.	.	ENSG00000023516	ENST00000025301	T	0.52057	0.68	5.99	2.33	0.28932	.	0.168669	0.50627	N	0.000116	T	0.31136	0.0787	L	0.39898	1.24	0.28659	N	0.906225	B	0.06786	0.001	B	0.08055	0.003	T	0.14587	-1.0467	10	0.14656	T	0.56	.	6.1892	0.20513	0.3167:0.1248:0.5584:0.0	.	1464	Q9UKA4	AKA11_HUMAN	N	1464	ENSP00000025301:S1464N	ENSP00000025301:S1464N	S	+	2	0	AKAP11	41775273	0.999000	0.42202	1.000000	0.80357	0.666000	0.39218	0.968000	0.29357	0.869000	0.35703	0.655000	0.94253	AGC		0.378	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		3	40	0	0	0	1	0	3	40					A	42877273	G	A	42877273	3	1	447	1	0	0	0	0	1	0	0	0	447	971	34	2	4413	2	AKAP11	13	42877273	Missense_Mutation	SNP	G	TCGA-FY-A4B4-01A-11D-A23U-08		42877273	72292605	9	9120											
IPO4	79711	broad.mit.edu	37	chr14	24657601	24657601	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgggtgttcagtcgtctgCgggtcagcacggccgcaaac	15	12	3	0			TCGA-FY-A4B4-01A-11D-A23U-08	TCGA-FY-A4B4-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8356de8c-a93f-4dc6-8db0-31fefb435baf	535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d	g.chr14:24657601C>T	ENST00000354464.6	-	3	361	c.185G>A	c.(184-186)cGc>cAc	p.R62H	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	62	Importin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00115}.				DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CAGTCGTCTGCGGGTCAGCAC	0.692																																						ENST00000354464.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33						c.(184-186)cGc>cAc		importin 4							19	24	23					14																	24657601		2003	4136	6139	SO:0001583	missense	79711				intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr14:24657601C>T	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"Importins"	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.185G>A	14.37:g.24657601C>T	ENSP00000346453:p.Arg62His					RP11-468E2.2_ENST00000561419.1_3'UTR	p.R62H	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN		GBM - Glioblastoma multiforme(265;0.0087)	3	361	-			62			Importin N-terminal.		B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	ENST00000354464.6	37	c.185G>A	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	C	37	6.102891	0.97286	.	.	ENSG00000196497	ENST00000354464	T	0.05855	3.38	5.43	5.43	0.79202	Armadillo-like helical (1);Armadillo-type fold (1);Importin-beta, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.31199	0.0789	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.05869	-1.0859	10	0.87932	D	0	-21.4407	17.0851	0.86609	0.0:1.0:0.0:0.0	.	62	Q8TEX9	IPO4_HUMAN	H	62	ENSP00000346453:R62H	ENSP00000346453:R62H	R	-	2	0	IPO4	23727441	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.288000	0.65651	2.709000	0.92574	0.563000	0.77884	CGC		0.692	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		3	36	0	0	0	1	0	3	36					T	24657601	C	T	24657601	3	4	447	1	0	0	0	0	1	0	0	0	7795	768	27	1	3172	1	IPO4	14	24657601	Missense_Mutation	SNP	C	TCGA-FY-A4B4-01A-11D-A23U-08		24657601	82691939	10	9121											
AKT1	207	broad.mit.edu	37	chr14	105246551	105246551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgccaggtcttgatgtactCccctacagacgtgcgggtgg	13	13	1	2	rs34409589|rs121434592		TCGA-FY-A4B4-01A-11D-A23U-08	TCGA-FY-A4B4-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8356de8c-a93f-4dc6-8db0-31fefb435baf	535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d	g.chr14:105246551C>T	ENST00000554581.1	-	2	1529	c.49G>A	c.(49-51)Gag>Aag	p.E17K	AKT1_ENST00000544168.1_5'Flank|AKT1_ENST00000402615.2_Missense_Mutation_p.E17K|AKT1_ENST00000554848.1_Missense_Mutation_p.E17K|AKT1_ENST00000407796.2_Missense_Mutation_p.E17K|AKT1_ENST00000555528.1_Missense_Mutation_p.E17K|AKT1_ENST00000349310.3_Missense_Mutation_p.E17K			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	17	Inositol-(1,3,4,5)-tetrakisphosphate binding.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.		E -> K (in PROTEUSS and breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; results in increased phosphorylation at T-308 and higher basal ubiquitination; the mutant protein is more efficiently recruited to the plasma membrane; alters phosphatidylinositiol phosphates lipid specificity of the AKT1 PH domain; dbSNP:rs121434592). {ECO:0000269|PubMed:17611497, ECO:0000269|PubMed:21793738}.		activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.E17K(102)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TTGATGTACTCCCCTACAGAC	0.612	E17K(KU1919_URINARY_TRACT)	1	Mis		"breast, colorectal, ovarian, NSCLC"																																	ENST00000554581.1	E17K(KU1919_URINARY_TRACT)	1		Dom	yes		14	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1			E			"breast, colorectal, ovarian, NSCLC"		102	Substitution - Missense(102)	p.E17K(102)	breast(49)|urinary_tract(14)|thyroid(10)|endometrium(10)|lung(7)|large_intestine(4)|prostate(4)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1)	NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176						c.(49-51)Gag>Aag		v-akt murine thymoma viral oncogene homolog 1	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)						130	93	106					14																	105246551		2203	4300	6503	SO:0001583	missense	207				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	g.chr14:105246551C>T	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"Pleckstrin homology (PH) domain containing"	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.49G>A	14.37:g.105246551C>T	ENSP00000451828:p.Glu17Lys					AKT1_ENST00000554848.1_Missense_Mutation_p.E17K|AKT1_ENST00000555528.1_Missense_Mutation_p.E17K|AKT1_ENST00000407796.2_Missense_Mutation_p.E17K|AKT1_ENST00000402615.2_Missense_Mutation_p.E17K|AKT1_ENST00000349310.3_Missense_Mutation_p.E17K	p.E17K			P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	2	1529	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	17		E -> K (in breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; alters the PH domain conformation; results in activation of the protein; alters the subcellular location of the protein to the plasma membrane).	PH.		B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	ENST00000554581.1	37	c.49G>A	CCDS9994.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458989	0.84317	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000554848;ENST00000555926	T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17	4.61	4.61	0.57282	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.59838	0.2223	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64411	-0.6414	10	0.72032	D	0.01	.	16.1757	0.81847	0.0:1.0:0.0:0.0	.	17	P31749	AKT1_HUMAN	K	17	ENSP00000451828:E17K;ENSP00000384293:E17K;ENSP00000270202:E17K;ENSP00000385326:E17K;ENSP00000450688:E17K;ENSP00000451166:E17K;ENSP00000451824:E17K	ENSP00000270202:E17K	E	-	1	0	AKT1	104317596	1.000000	0.71417	0.639000	0.29394	0.296000	0.27459	7.347000	0.79356	2.395000	0.81488	0.462000	0.41574	GAG		0.612	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163		11	22	0	0	0	1	0	11	22					T	105246551	C	T	105246551	3	4	447	1	0	0	0	0	1	0	0	0	478	864	30	2	1441	2	AKT1	14	105246551	Missense_Mutation	SNP	C	TCGA-FY-A4B4-01A-11D-A23U-08	80588950	105246551	2102989	11	9122											
MAP1A	4130	broad.mit.edu	37	chr15	43813749	43813749	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccatttgacctactagagccCcccacctcagggggcttcct	8	17	1	2			TCGA-FY-A4B4-01A-11D-A23U-08	TCGA-FY-A4B4-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8356de8c-a93f-4dc6-8db0-31fefb435baf	535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d	g.chr15:43813749C>G	ENST00000300231.5	+	4	528	c.78C>G	c.(76-78)ccC>ccG	p.P26P	MAP1A_ENST00000399453.1_Silent_p.P26P|MAP1A_ENST00000382031.1_Silent_p.P264P			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	26					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TACTAGAGCCCCCCACCTCAG	0.577																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(790-792)ccC>ccG		microtubule-associated protein 1A	Estramustine(DB01196)						72	76	74					15																	43813749		2107	4238	6345	SO:0001819	synonymous_variant	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43813749C>G	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.78C>G	15.37:g.43813749C>G						MAP1A_ENST00000399453.1_Silent_p.P26P|MAP1A_ENST00000300231.5_Silent_p.P26P	p.P264P			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	823	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	26					O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	ENST00000300231.5	37	c.792C>G	CCDS42031.1																																																																																				0.577	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		37	56	0	0	0	1	0	37	56					G	43813749	C	G	43813749	2	3	447	1	0	0	0	0	0	0	0	1	9227	610	22	4		4	MAP1A	15	43813749	Silent	SNP	C	TCGA-FY-A4B4-01A-11D-A23U-08		43813749	58717643	12	9123											
LINGO1	84894	broad.mit.edu	37	chr15	77906580	77906580	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	catggtggtggcgatgatgaGggtcttgatgtcgaagggga	19	4	1	3			TCGA-FY-A4B4-01A-11D-A23U-08	TCGA-FY-A4B4-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8356de8c-a93f-4dc6-8db0-31fefb435baf	535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d	g.chr15:77906580G>C	ENST00000355300.6	-	2	1843	c.1669C>G	c.(1669-1671)Ctc>Gtc	p.L557V	LINGO1_ENST00000561030.1_Missense_Mutation_p.L551V	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	557					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GCGATGATGAGGGTCTTGATG	0.597																																						ENST00000355300.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1669-1671)Ctc>Gtc		leucine rich repeat and Ig domain containing 1							127	134	131					15																	77906580		2165	4269	6434	SO:0001583	missense	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77906580G>C	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"Immunoglobulin superfamily / I-set domain containing"	21205	protein-coding gene	gene with protein product		609791	"leucine rich repeat neuronal 6A"	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.1669C>G	15.37:g.77906580G>C	ENSP00000347451:p.Leu557Val					LINGO1_ENST00000561030.1_Missense_Mutation_p.L551V	p.L557V	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN			2	1843	-			557					D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	ENST00000355300.6	37	c.1669C>G	CCDS45313.1	.	.	.	.	.	.	.	.	.	.	G	8.625	0.892315	0.17613	.	.	ENSG00000169783	ENST00000355300	T	0.53423	0.62	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.44180	0.1281	M	0.65498	2.005	0.58432	D	0.999997	B	0.31009	0.303	B	0.32393	0.145	T	0.29212	-1.0019	10	0.11182	T	0.66	.	12.4377	0.55608	0.0767:0.0:0.9233:0.0	.	557	Q96FE5	LIGO1_HUMAN	V	557	ENSP00000347451:L557V	ENSP00000347451:L557V	L	-	1	0	LINGO1	75693635	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.012000	0.57131	2.509000	0.84616	0.561000	0.74099	CTC		0.597	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		30	48	0	0	0	1	0	30	48					C	77906580	G	C	77906580	3	2	447	1	0	0	0	0	1	0	0	0	8814	1000	35	4	197	4	LINGO1	15	77906580	Missense_Mutation	SNP	G	TCGA-FY-A4B4-01A-11D-A23U-08	34092831	77906580	24624812	13	9124											
PIGQ	9091	broad.mit.edu	37	chr16	628429	628429	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtggctgatgggtgctccCgccgggctcaagatgaaccg	15	12	1	3	rs142362312		TCGA-FY-A4B4-01A-11D-A23U-08	TCGA-FY-A4B4-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8356de8c-a93f-4dc6-8db0-31fefb435baf	535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d	g.chr16:628429C>T	ENST00000026218.5	+	5	1081	c.993C>T	c.(991-993)ccC>ccT	p.P331P	PIGQ_ENST00000409527.2_Silent_p.P331P|PIGQ_ENST00000544860.1_3'UTR|PIGQ_ENST00000321878.5_Silent_p.P331P	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	331	Leu-rich.				C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|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)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				TGGGTGCTCCCGCCGGGCTCA	0.682																																						ENST00000321878.5																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(991-993)ccC>ccT		phosphatidylinositol glycan anchor biosynthesis, class Q		C	,	0,4396		0,0,2198	42	37	39		993,993	-9.1	0.0	16	dbSNP_134	39	3,8593	3.0+/-9.4	0,3,4295	no	coding-synonymous,coding-synonymous	PIGQ	NM_004204.3,NM_148920.1	,	0,3,6493	TT,TC,CC		0.0349,0.0,0.0231	,	331/582,331/761	628429	3,12989	2198	4298	6496	SO:0001819	synonymous_variant	9091				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr16:628429C>T	AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"Phosphatidylinositol glycan anchor biosynthesis"	14135	protein-coding gene	gene with protein product		605754	"phosphatidylinositol glycan, class Q"			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.993C>T	16.37:g.628429C>T						PIGQ_ENST00000544860.1_3'UTR|PIGQ_ENST00000026218.5_Silent_p.P331P|PIGQ_ENST00000409527.2_Silent_p.P331P	p.P331P	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN			5	1152	+		Hepatocellular(780;0.00335)	331			Leu-rich.		A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Silent	SNP	ENST00000026218.5	37	c.993C>T	CCDS10411.1																																																																																				0.682	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	NM_004204		4	52	0	0	0	1	0	4	52					T	628429	C	T	628429	2	4	447	1	0	0	0	0	0	0	0	1	11896	639	23	1		1	PIGQ	16	628429	Silent	SNP	C	TCGA-FY-A4B4-01A-11D-A23U-08		628429	89726324	14	9125											
TP53	7157	broad.mit.edu	37	chr17	7579472	7579472	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgctggtgcaggggccacgGggggagcagcctctggcatt	18	11	1	0	rs1042522	byFrequency	TCGA-FY-A4B4-01A-11D-A23U-08	TCGA-FY-A4B4-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8356de8c-a93f-4dc6-8db0-31fefb435baf	535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d	g.chr17:7579472G>C	ENST00000269305.4	-	4	404	c.215C>G	c.(214-216)cCc>cGc	p.P72R	TP53_ENST00000455263.2_Missense_Mutation_p.P72R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.P72R|TP53_ENST00000445888.2_Missense_Mutation_p.P72R|TP53_ENST00000359597.4_Missense_Mutation_p.P72R|TP53_ENST00000420246.2_Missense_Mutation_p.P72R	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	72	Interaction with HRMT1L2.|Interaction with WWOX.		P -> C (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> G (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in a sporadic cancer; somatic mutation).|P -> R (in dbSNP:rs1042522). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:16131611, ECO:0000269|PubMed:1999338, ECO:0000269|Ref.17}.		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.0?(8)|p.R72P(3)|p.R72fs*51(3)|p.G59fs*23(3)|p.R72H(2)|p.E68fs*76(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.S33fs*23(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)	AGGGGCCACGGGGGGAGCAGC	0.607		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)			G|||	2719	0.542931	0.3313	0.683	5008	,	,		12456	0.5863		0.7147	False		,,,				2504	0.5082				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"		25	Whole gene deletion(8)|Deletion - Frameshift(8)|Substitution - Missense(5)|Complex - frameshift(3)|Deletion - In frame(1)	p.0?(8)|p.R72P(3)|p.R72fs*51(3)|p.G59fs*23(3)|p.R72H(2)|p.E68fs*76(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.S33fs*23(1)	upper_aerodigestive_tract(5)|central_nervous_system(4)|breast(4)|bone(4)|lung(2)|ovary(2)|large_intestine(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|prostate(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	CM961374	TP53	M	rs1042522	c.(214-216)cCc>cGc	Other conserved DNA damage response genes	tumor protein p53		G	ARG/PRO,ARG/PRO,ARG/PRO,ARG/PRO	1784,2620		386,1012,804	88	95	92	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	215,215,215,215	1.9	0.0	17	dbSNP_86	92	6409,2191		2409,1591,300	yes	missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1	103,103,103,103	2795,2603,1104	CC,CG,GG		25.4767,40.5086,36.9963	benign,benign,benign,benign	72/394,72/394,72/347,72/342	7579472	8193,4811	2202	4300	6502	SO:0001583	missense	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.chr17:7579472G>C	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.215C>G	17.37:g.7579472G>C	ENSP00000269305:p.Pro72Arg	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_ENST00000359597.4_Missense_Mutation_p.P72R|TP53_ENST00000269305.4_Missense_Mutation_p.P72R|TP53_ENST00000455263.2_Missense_Mutation_p.P72R|TP53_ENST00000445888.2_Missense_Mutation_p.P72R|TP53_ENST00000413465.2_Missense_Mutation_p.P72R	p.P72R	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)	4	347	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	72		P -> C (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> G (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in a sporadic cancer; somatic mutation).|P -> R (in dbSNP:rs1042522).	Interaction with HRMT1L2.|Interaction with WWOX.		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	Missense_Mutation	SNP	ENST00000269305.4	37	c.215C>G	CCDS11118.1	1315	0.6021062271062271	160	0.3252032520325203	262	0.7237569060773481	351	0.6136363636363636	542	0.7150395778364116	G	8.316	0.823228	0.16678	0.405086	0.745233	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99319	-5.23;-5.74;-5.45;-5.74;-5.74;-5.45;-4.11;-2.05	1.87	1.87	0.25490	.	2.010640	0.04441	U	0.370853	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B;B;B;P	0.41313	0.0;0.217;0.151;0.083;0.745	B;B;B;B;B	0.41988	0.0;0.128;0.147;0.045;0.372	T	0.45056	-0.9287	9	0.39692	T	0.17	.	9.7733	0.40603	0.0:0.0:1.0:0.0	rs1042522;rs2229076;rs3174747;rs4134781;rs17844988;rs17857747;rs17882155;rs60388830;rs1042522	72;72;72;72;72	E7EMR6;P04637-2;P04637-3;P04637;E7EQX7	.;.;.;P53_HUMAN;.	R	72	ENSP00000410739:P72R;ENSP00000352610:P72R;ENSP00000269305:P72R;ENSP00000398846:P72R;ENSP00000391127:P72R;ENSP00000391478:P72R;ENSP00000424104:P72R;ENSP00000426252:P72R	ENSP00000269305:P72R	P	-	2	0	TP53	7520197	0.002000	0.14202	0.003000	0.11579	0.002000	0.02628	1.015000	0.29963	1.355000	0.45865	0.561000	0.74099	CCC		0.607	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		6	182	0	0	0	1	0	6	182					C	7579472	G	C	7579472	3	2	447	1	0	0	0	0	1	0	0	0	16378	1232	43	4	1087	4	TP53	17	7579472	Missense_Mutation	SNP	G	TCGA-FY-A4B4-01A-11D-A23U-08		7579472	73615738	15	9126											
PIK3R6	146850	broad.mit.edu	37	chr17	8707376	8707376	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cacctgaccacatccctgaaAgtgcgttgatcgtccttgtc	8	14	0	3			TCGA-FY-A4B4-01A-11D-A23U-08	TCGA-FY-A4B4-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8356de8c-a93f-4dc6-8db0-31fefb435baf	535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d	g.chr17:8707376A>T	ENST00000311434.9	-	20	2327	c.2088T>A	c.(2086-2088)acT>acA	p.T696T	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	697					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										CATCCCTGAAAGTGCGTTGAT	0.587																																						ENST00000311434.9																			0											c.(2086-2088)acT>acA		phosphoinositide-3-kinase, regulatory subunit 6							100	105	103					17																	8707376		2110	4230	6340	SO:0001819	synonymous_variant	146850				platelet activation	cytosol		g.chr17:8707376A>T	AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"chromosome 17 open reading frame 38"	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.2088T>A	17.37:g.8707376A>T						PIK3R6_ENST00000434064.2_5'UTR	p.T696T	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN			20	2327	-			697					Q658R3	Silent	SNP	ENST00000311434.9	37	c.2088T>A																																																																																					0.587	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001010855		14	18	0	0	0	1	0	14	18					T	8707376	A	T	8707376	2	4	447	1	0	0	0	0	0	0	0	1	11923	59	3	5		5	PIK3R6	17	8707376	Silent	SNP	A	TCGA-FY-A4B4-01A-11D-A23U-08	1127904	8707376	72487834	16	9127											
TUBB4	10382	broad.mit.edu	37	chr19	6501536	6501536	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgccctacctgtggcctcGttgtagtacacgttgatcct	9	13	0	1	rs375230837		TCGA-FY-A4B4-01A-11D-A23U-08	TCGA-FY-A4B4-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8356de8c-a93f-4dc6-8db0-31fefb435baf	535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d	g.chr19:6501536G>A	ENST00000264071.2	-	2	527	c.156C>T	c.(154-156)aaC>aaT	p.N52N	TUBB4A_ENST00000601152.1_Missense_Mutation_p.T27M|TUBB4A_ENST00000598006.1_Missense_Mutation_p.T38M|TUBB4A_ENST00000540257.1_Silent_p.N52N|TUBB4A_ENST00000596926.1_Silent_p.N52N			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	52					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										CTGTGGCCTCGTTGTAGTACA	0.592																																						ENST00000601152.1																			0											c.(79-81)aCg>aTg		tubulin, beta 4A class IVa		G		0,4406		0,0,2203	153	119	131		156	-3.0	1.0	19		131	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TUBB4	NM_006087.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		52/445	6501536	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6501536G>A	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"Tubulins"	20774	protein-coding gene	gene with protein product	"class IVa beta-tubulin"	602662	"tubulin, beta 4", "tubulin, beta 4 class IVa", "dystonia 4, torsion (autosomal dominant)"	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.156C>T	19.37:g.6501536G>A						TUBB4A_ENST00000264071.2_Silent_p.N52N|TUBB4A_ENST00000596926.1_Silent_p.N52N|TUBB4A_ENST00000540257.1_Silent_p.N52N|TUBB4A_ENST00000598006.1_Missense_Mutation_p.T38M	p.T27M			P04350	TBB4_HUMAN			2	205	-			0					B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	c.80C>T	CCDS12168.1																																																																																				0.592	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		30	63	0	0	0	1	0	30	63					A	6501536	G	A	6501536	2	1	447	1	0	0	0	0	0	0	0	1	16755	1136	40	1		1	TUBB4	19	6501536	Silent	SNP	G	TCGA-FY-A4B4-01A-11D-A23U-08		6501536	52627447	17	9128											
TNFRSF14	8764	broad.mit.edu	37	chr1	2493197	2493197	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcagggagcctcgtcatcGtcattgtttgctccacagtt	9	12	3	0			TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr1:2493197G>T	ENST00000355716.4	+	6	936	c.637G>T	c.(637-639)Gtc>Ttc	p.V213F		NM_003820.2	NP_003811.2	Q92956	TNR14_HUMAN	tumor necrosis factor receptor superfamily, member 14	213					cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell migration (GO:2000406)|T cell costimulation (GO:0031295)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			kidney(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		CCTCGTCATCGTCATTGTTTG	0.602			"Mis, N, F"		follicular lymphoma																																	ENST00000355716.4				Rec	yes		1	1p36.32	8764	"Mis, N, F"	"tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)"			L			follicular lymphoma		0				kidney(1)	1						c.(637-639)Gtc>Ttc		tumor necrosis factor receptor superfamily, member 14							119	109	113					1																	2493197		2203	4300	6503	SO:0001583	missense	8764				immune response|interspecies interaction between organisms|T cell costimulation		tumor necrosis factor receptor activity	g.chr1:2493197G>T	U70321	CCDS44046.1	1p36.32	2012-02-27	2011-08-11		ENSG00000157873	ENSG00000157873		"Tumor necrosis factor receptor superfamily", "CD molecules"	11912	protein-coding gene	gene with protein product	"herpesvirus entry mediator"	602746	"tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)"			8898196, 9162061	Standard	XM_006711018		Approved	HVEM, ATAR, TR2, LIGHTR, HVEA, CD270	uc001ajt.1	Q92956	OTTHUMG00000000792	ENST00000355716.4:c.637G>T	1.37:g.2493197G>T	ENSP00000347948:p.Val213Phe						p.V213F	NM_003820.2	NP_003811.2	Q92956	TNR14_HUMAN		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)	6	936	+	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	213					B3KW30|B9DI89|Q6IB95|Q8N634|Q8WXR1|Q96J31|Q9UM65	Missense_Mutation	SNP	ENST00000355716.4	37	c.637G>T	CCDS44046.1	.	.	.	.	.	.	.	.	.	.	G	6.495	0.459594	0.12342	.	.	ENSG00000157873	ENST00000434817;ENST00000435221;ENST00000451778;ENST00000355716	D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34	1.99	-3.48	0.04739	.	.	.	.	.	T	0.72301	0.3443	N	0.24115	0.695	0.09310	N	1	P	0.41041	0.736	B	0.38842	0.283	T	0.63637	-0.6592	9	0.48119	T	0.1	3.5177	1.5945	0.02661	0.1447:0.3871:0.2727:0.1956	.	213	Q92956	TNR14_HUMAN	F	213	ENSP00000415254:V213F;ENSP00000399292:V213F;ENSP00000399533:V213F;ENSP00000347948:V213F	ENSP00000347948:V213F	V	+	1	0	TNFRSF14	2481221	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-3.256000	0.00538	-0.888000	0.03956	0.313000	0.20887	GTC		0.602	TNFRSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002088.1			4	104	1	0	0.00909568	1	0.00909568	4	104					T	2493197	G	T	2493197	3	4	448	1	0	0	0	0	1	0	0	0	16286	1145	40	4	659	4	TNFRSF14	1	2493197	Missense_Mutation	SNP	G	TCGA-FY-A76V-01A-11D-A397-08		2493197	246757424	1	9129											
CLCA4	22802	broad.mit.edu	37	chr1	87031618	87031618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacaccatacccatggtgaCaccacctcctccacctgtct	4	18	1	1			TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr1:87031618C>T	ENST00000370563.3	+	6	911	c.869C>T	c.(868-870)aCa>aTa	p.T290I	CLCA4_ENST00000263723.5_Missense_Mutation_p.T3I	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	290					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CCCATGGTGACACCACCTCCT	0.408																																						ENST00000370563.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(868-870)aCa>aTa		chloride channel accessory 4							155	147	149					1																	87031618		1892	4131	6023	SO:0001583	missense	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87031618C>T	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"chloride channel, calcium activated, family member 4", "chloride channel regulator 4"			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.869C>T	1.37:g.87031618C>T	ENSP00000359594:p.Thr290Ile					CLCA4_ENST00000263723.5_Missense_Mutation_p.T3I	p.T290I	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	6	911	+		Lung NSC(277;0.238)	290					A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	ENST00000370563.3	37	c.869C>T	CCDS41355.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.818157	0.32145	.	.	ENSG00000016602	ENST00000370563;ENST00000263723	T;T	0.13538	4.13;2.58	5.65	-4.03	0.04021	.	1.715830	0.03838	U	0.270175	T	0.03651	0.0104	L	0.35414	1.06	0.09310	N	1	B	0.29936	0.262	B	0.35039	0.194	T	0.43410	-0.9393	10	0.72032	D	0.01	0.3763	4.646	0.12572	0.4189:0.2054:0.3081:0.0676	.	290	Q14CN2	CLCA4_HUMAN	I	290;3	ENSP00000359594:T290I;ENSP00000263723:T3I	ENSP00000263723:T3I	T	+	2	0	CLCA4	86804206	0.000000	0.05858	0.000000	0.03702	0.141000	0.21300	-2.012000	0.01451	-1.006000	0.03412	0.655000	0.94253	ACA		0.408	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		36	84	0	0	0	1	0	36	84					T	87031618	C	T	87031618	3	4	448	1	0	0	0	0	1	0	0	0	3459	478	17	2	891	2	CLCA4	1	87031618	Missense_Mutation	SNP	C	TCGA-FY-A76V-01A-11D-A397-08	84538421	87031618	162219003	2	9130											
SPRR4	163778	broad.mit.edu	37	chr1	152944387	152944389	+	In_Frame_Del	DEL	GCG	GCG	-													atgtcttcccagcagcagcaGcggcagcagcagcagtgccc					rs73010454|rs201207143	byFrequency	TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr1:152944387_152944389delGCG	ENST00000328051.2	+	2	70_72	c.21_23delGCG	c.(19-24)cagcgg>cag	p.R8del		NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	small proline-rich protein 4	8	Gln-rich.				keratinization (GO:0031424)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)				lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			agcagcagcagcggcagcagcag	0.552																																						ENST00000328051.2																			0				lung(1)|prostate(1)	2						c.(19-24)cag>ca		small proline-rich protein 4																																				SO:0001651	inframe_deletion	163778				keratinization|peptide cross-linking	cell cortex		g.chr1:152944387_152944389delGCG	AF335109	CCDS1031.1	1q21.3	2008-02-05	2006-11-29		ENSG00000184148	ENSG00000184148			23173	protein-coding gene	gene with protein product						11719550, 11279051	Standard	NM_173080		Approved		uc001fav.1	Q96PI1	OTTHUMG00000012450	ENST00000328051.2:c.21_23delGCG	1.37:g.152944387_152944389delGCG	ENSP00000332163:p.Arg8del						p.QR7del	NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	70_72	+	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		7			Gln-rich.		Q2M1Y7|Q5T522	In_Frame_Del	DEL	ENST00000328051.2	37	c.21_23delGCG	CCDS1031.1																																																																																				0.552	SPRR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034663.1	NM_173080		7	160						7	160	---	---	---	---	-	152944389	GCG	-	152944387	7	5	448	1	0	1	0	1	0	0	0	0	15103	962	34	0	23	0	SPRR4	1	152944387	In_Frame_Del	DEL	GCG	TCGA-FY-A76V-01A-11D-A397-08	65912769	152944387	96306234	3	9131											
ETAA1	54465	broad.mit.edu	37	chr2	67631713	67631713	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaaggacagtaagacatcAgaaagtatatgtgagatcaa	10	4	2	4			TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr2:67631713A>G	ENST00000272342.5	+	5	2029	c.1899A>G	c.(1897-1899)tcA>tcG	p.S633S	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	633						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						GTAAGACATCAGAAAGTATAT	0.363																																						ENST00000272342.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						c.(1897-1899)tcA>tcG		Ewing tumor-associated antigen 1							104	110	108					2																	67631713		2201	4295	6496	SO:0001819	synonymous_variant	54465					cytoplasm|nucleus		g.chr2:67631713A>G	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"Ewing's tumor-associated antigen 1"			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.1899A>G	2.37:g.67631713A>G						ETAA1_ENST00000462772.1_Intron	p.S633S	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN			5	2029	+			633					Q05BT7|Q53SC4	Silent	SNP	ENST00000272342.5	37	c.1899A>G	CCDS1882.1																																																																																				0.363	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		5	154	0	0	0	1	0	5	154					G	67631713	A	G	67631713	2	3	448	1	0	0	0	0	0	0	0	1	5267	175	7	3		3	ETAA1	2	67631713	Silent	SNP	A	TCGA-FY-A76V-01A-11D-A397-08		67631713	175567660	4	9132											
TMEM163	81615	broad.mit.edu	37	chr2	135223748	135223748	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacttcaacacggccaggaTgctgcaaagaatcccactta	8	12	1	1			TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr2:135223748T>C	ENST00000281924.6	-	6	668	c.604A>G	c.(604-606)Atc>Gtc	p.I202V		NM_030923.4	NP_112185.1	Q8TC26	TM163_HUMAN	transmembrane protein 163	202						cell junction (GO:0030054)|early endosome membrane (GO:0031901)|integral component of synaptic vesicle membrane (GO:0030285)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		ACGGCCAGGATGCTGCAAAGA	0.502																																						ENST00000281924.6																			0				endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16						c.(604-606)Atc>Gtc		transmembrane protein 163							88	75	79					2																	135223748		2203	4300	6503	SO:0001583	missense	81615					integral to membrane		g.chr2:135223748T>C		CCDS2172.1	2q21.3	2008-02-05			ENSG00000152128	ENSG00000152128			25380	protein-coding gene	gene with protein product						17623043	Standard	NM_030923		Approved	DKFZP566N034, SV31	uc002ttx.3	Q8TC26	OTTHUMG00000131713	ENST00000281924.6:c.604A>G	2.37:g.135223748T>C	ENSP00000281924:p.Ile202Val						p.I202V	NM_030923.4	NP_112185.1	Q8TC26	TM163_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.154)	6	668	-			202					Q53QM3|Q53SV7|Q69YH3|Q9UFG3	Missense_Mutation	SNP	ENST00000281924.6	37	c.604A>G	CCDS2172.1	.	.	.	.	.	.	.	.	.	.	T	6.838	0.523785	0.13066	.	.	ENSG00000152128	ENST00000281924	T	0.62941	-0.01	6.07	2.48	0.30137	.	0.481828	0.23951	N	0.042949	T	0.33614	0.0869	N	0.15975	0.35	0.23314	N	0.997925	B	0.02656	0.0	B	0.04013	0.001	T	0.22417	-1.0217	10	0.05721	T	0.95	.	4.7887	0.13238	0.0:0.3074:0.1608:0.5318	.	202	Q8TC26	TM163_HUMAN	V	202	ENSP00000281924:I202V	ENSP00000281924:I202V	I	-	1	0	TMEM163	134940218	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	0.878000	0.28126	0.554000	0.29061	0.533000	0.62120	ATC		0.502	TMEM163-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254631.2	NM_030923		3	35	0	0	0	1	0	3	35					C	135223748	T	C	135223748	3	2	448	1	0	0	0	0	1	0	0	0	16075	1464	51	3	277	3	TMEM163	2	135223748	Missense_Mutation	SNP	T	TCGA-FY-A76V-01A-11D-A397-08	67592035	135223748	107975625	5	9133											
ZNF860	344787	broad.mit.edu	37	chr3	32031910	32031910	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctcgtagttcattggcgaActcatactggagagaaacct	9	9	3	1			TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr3:32031910A>G	ENST00000360311.4	+	2	1888	c.1339A>G	c.(1339-1341)Act>Gct	p.T447A		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	447					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(3)|lung(4)|ovary(1)	8						TCATTGGCGAACTCATACTGG	0.378																																						ENST00000360311.4																			0				endometrium(3)|lung(4)|ovary(1)	8						c.(1339-1341)Act>Gct		zinc finger protein 860							106	96	99					3																	32031910		692	1591	2283	SO:0001583	missense	344787				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32031910A>G	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"Zinc fingers, C2H2-type", "-"	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.1339A>G	3.37:g.32031910A>G	ENSP00000373274:p.Thr447Ala						p.T447A	NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN			2	1888	+			447					B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	c.1339A>G	CCDS46784.1	.	.	.	.	.	.	.	.	.	.	A	8.102	0.776802	0.16120	.	.	ENSG00000197385	ENST00000360311	T	0.01133	5.29	0.336	0.336	0.15958	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00998	0.0033	L	0.28740	0.885	0.09310	N	1	B	0.13145	0.007	B	0.19148	0.024	T	0.47407	-0.9120	8	.	.	.	.	4.9796	0.14158	0.9998:0.0:2.0E-4:0.0	.	447	A6NHJ4	ZN860_HUMAN	A	447	ENSP00000373274:T447A	.	T	+	1	0	ZNF860	32006914	0.000000	0.05858	0.026000	0.17262	0.024000	0.10985	0.069000	0.14552	0.327000	0.23409	0.317000	0.21355	ACT		0.378	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			10	51	0	0	0	1	0	10	51					G	32031910	A	G	32031910	3	3	448	1	0	0	0	0	1	0	0	0	18191	43	2	3	1341	3	ZNF860	3	32031910	Missense_Mutation	SNP	A	TCGA-FY-A76V-01A-11D-A397-08		32031910	165990520	6	9134											
PHF17	79960	broad.mit.edu	37	chr4	129770169	129770169	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaatccctcatgttcatcAggcccaagaagtacatcgtg	8	11	3	2			TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr4:129770169A>G	ENST00000226319.6	+	5	611	c.331A>G	c.(331-333)Agg>Ggg	p.R111G	PHF17_ENST00000511647.1_Missense_Mutation_p.R111G|PHF17_ENST00000413543.2_Missense_Mutation_p.R111G|PHF17_ENST00000452328.2_Splice_Site|PHF17_ENST00000512960.1_Missense_Mutation_p.R111G	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CATGTTCATCAGGCCCAAGAA	0.507																																						ENST00000226319.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(331-333)Agg>Ggg									188	165	173					4																	129770169		2203	4300	6503	SO:0001583	missense	0				apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding	g.chr4:129770169A>G																												ENST00000226319.6:c.331A>G	4.37:g.129770169A>G	ENSP00000226319:p.Arg111Gly					PHF17_ENST00000413543.2_Missense_Mutation_p.R111G|PHF17_ENST00000452328.2_Splice_Site|PHF17_ENST00000512960.1_Missense_Mutation_p.R111G|PHF17_ENST00000511647.1_Missense_Mutation_p.R111G	p.R111G	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN			5	611	+			111						Missense_Mutation	SNP	ENST00000226319.6	37	c.331A>G	CCDS34062.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.35|18.35	3.605495|3.605495	0.66445|0.66445	.|.	.|.	ENSG00000077684|ENSG00000077684	ENST00000452328|ENST00000226319;ENST00000511647;ENST00000504089;ENST00000512960;ENST00000503785;ENST00000535321;ENST00000510308;ENST00000413543;ENST00000507833;ENST00000508997	.|T;T;T;T;T;T;T;T;T	.|0.47869	.|0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83	4.69|4.69	4.69|4.69	0.59074|0.59074	.|Enhancer of polycomb-like, N-terminal (1);	.|0.096084	.|0.64402	.|D	.|0.000002	.|T	.|0.41419	.|0.1158	L|L	0.50333|0.50333	1.59|1.59	0.48762|0.48762	D|D	0.999702|0.999702	.|B;B	.|0.27594	.|0.182;0.002	.|B;B	.|0.29440	.|0.102;0.007	.|T	.|0.26744	.|-1.0094	.|9	.|.	.|.	.|.	.|.	11.5687|11.5687	0.50822|0.50822	0.8404:0.1596:0.0:0.0|0.8404:0.1596:0.0:0.0	.|.	.|111;111	.|Q6IE81;Q6IE81-3	.|JADE1_HUMAN;.	.|G	-1|111	.|ENSP00000226319:R111G;ENSP00000423737:R111G;ENSP00000426590:R111G;ENSP00000425730:R111G;ENSP00000422445:R111G;ENSP00000421265:R111G;ENSP00000404211:R111G;ENSP00000424280:R111G;ENSP00000425535:R111G	.|.	.|R	+|+	.|1	.|2	PHF17|PHF17	129989619|129989619	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	4.993000|4.993000	0.63895|0.63895	2.084000|2.084000	0.62774|0.62774	0.533000|0.533000	0.62120|0.62120	.|AGG		0.507	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1			4	107	0	0	0	1	0	4	107					G	129770169	A	G	129770169	3	3	448	1	0	0	0	0	1	0	0	0	11828	179	7	3	345	3	PHF17	4	129770169	Missense_Mutation	SNP	A	TCGA-FY-A76V-01A-11D-A397-08		129770169	61384107	7	9135											
CDK14	5218	broad.mit.edu	37	chr7	90613533	90613533	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	caggaatgaaagacattcagGatcaacttgaacgaatattt	8	6	2	3			TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr7:90613533G>C	ENST00000380050.3	+	10	1149	c.1018G>C	c.(1018-1020)Gat>Cat	p.D340H	CDK14_ENST00000265741.3_Missense_Mutation_p.D322H|CDK14_ENST00000406263.1_Missense_Mutation_p.D294H|CDK14_ENST00000436577.2_Missense_Mutation_p.D211H			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	340	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						AGACATTCAGGATCAACTTGA	0.363																																					GBM(83;1228 1256 8311 16577 31299)	ENST00000406263.1																			0				breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						c.(880-882)Gat>Cat		cyclin-dependent kinase 14							157	152	154					7																	90613533		2203	4300	6503	SO:0001583	missense	5218				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	g.chr7:90613533G>C		CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"Cyclin-dependent kinases"	8883	protein-coding gene	gene with protein product		610679	"PFTAIRE protein kinase 1"	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.1018G>C	7.37:g.90613533G>C	ENSP00000369390:p.Asp340His					CDK14_ENST00000380050.3_Missense_Mutation_p.D340H|CDK14_ENST00000436577.2_Missense_Mutation_p.D211H|CDK14_ENST00000265741.3_Missense_Mutation_p.D322H	p.D294H			O94921	CDK14_HUMAN			9	1322	+			340			Protein kinase.		A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Missense_Mutation	SNP	ENST00000380050.3	37	c.880G>C		.	.	.	.	.	.	.	.	.	.	G	24.3	4.521553	0.85600	.	.	ENSG00000058091	ENST00000380050;ENST00000265741;ENST00000406263;ENST00000436577	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	5.42	5.42	0.78866	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	0.85682	D	0.000000	D	0.83004	0.5160	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.973;0.999	D	0.84628	0.0688	10	0.87932	D	0	-15.4141	19.1783	0.93612	0.0:0.0:1.0:0.0	.	211;322;340	E7EUK8;O94921-2;O94921	.;.;CDK14_HUMAN	H	340;322;294;211	ENSP00000369390:D340H;ENSP00000265741:D322H;ENSP00000385034:D294H;ENSP00000398936:D211H	ENSP00000265741:D322H	D	+	1	0	CDK14	90451469	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.028000	0.93712	2.703000	0.92315	0.655000	0.94253	GAT		0.363	CDK14-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000059970.5	NM_012395		6	145	0	0	0	1	0	6	145					C	90613533	G	C	90613533	3	2	448	1	0	0	0	0	1	0	0	0	3130	1174	41	4	998	4	CDK14	7	90613533	Missense_Mutation	SNP	G	TCGA-FY-A76V-01A-11D-A397-08		90613533	68525130	8	9136											
ASB15	142685	broad.mit.edu	37	chr7	123254610	123254610	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttacaagttatgatattcaGctaagtattcaagaatccat	5	7	2	2			TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr7:123254610G>A	ENST00000451558.1	+	6	575	c.54G>A	c.(52-54)caG>caA	p.Q18Q	ASB15_ENST00000540573.1_Silent_p.Q18Q|RP11-390E23.3_ENST00000418409.1_RNA|RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000434204.1_Silent_p.Q18Q|ASB15_ENST00000451215.1_Silent_p.Q18Q|RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000275699.3_Silent_p.Q18Q			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	18					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						ATGATATTCAGCTAAGTATTC	0.353																																						ENST00000451558.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						c.(52-54)caG>caA		ankyrin repeat and SOCS box containing 15							202	205	204					7																	123254610		2203	4300	6503	SO:0001819	synonymous_variant	142685				intracellular signal transduction			g.chr7:123254610G>A	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"Ankyrin repeat domain containing"	19767	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 15"			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.54G>A	7.37:g.123254610G>A						RP11-390E23.3_ENST00000422401.1_RNA|RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000275699.3_Silent_p.Q18Q|ASB15_ENST00000434204.1_Silent_p.Q18Q|ASB15_ENST00000540573.1_Silent_p.Q18Q|ASB15_ENST00000451215.1_Silent_p.Q18Q	p.Q18Q			Q8WXK1	ASB15_HUMAN			6	575	+			18					Q3ZCP3|Q3ZCP5|Q68D37	Silent	SNP	ENST00000451558.1	37	c.54G>A	CCDS34742.1																																																																																				0.353	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1			10	214	0	0	0	1	0	10	214					A	123254610	G	A	123254610	2	1	448	1	0	0	0	0	0	0	0	1	1019	962	34	2		2	ASB15	7	123254610	Silent	SNP	G	TCGA-FY-A76V-01A-11D-A397-08	32641077	123254610	35884053	9	9137											
NAIF1	203245	broad.mit.edu	37	chr9	130825860	130825860	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acgctcagggcagcctgtgtGccctccatggcctgggcctg	14	15	1	0			TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr9:130825860G>C	ENST00000373078.4	-	2	1050	c.831C>G	c.(829-831)ggC>ggG	p.G277G	NAIF1_ENST00000488519.1_5'UTR	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	277					negative regulation of cell growth (GO:0030308)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CAGCCTGTGTGCCCTCCATGG	0.642																																						ENST00000373078.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(829-831)ggC>ggG		nuclear apoptosis inducing factor 1							82	74	77					9																	130825860		2203	4300	6503	SO:0001819	synonymous_variant	203245				apoptosis|induction of apoptosis	nucleus		g.chr9:130825860G>C	AK122729	CCDS6889.1	9q34.11	2008-04-10	2008-04-10	2008-04-10	ENSG00000171169	ENSG00000171169			25446	protein-coding gene	gene with protein product	"nuclear apoptosis-inducing factor 1"	610673	"chromosome 9 open reading frame 90"	C9orf90		14702039, 16378748	Standard	NM_197956		Approved	DKFZp762G199, bA379C10.2	uc004bta.3	Q69YI7	OTTHUMG00000020727	ENST00000373078.4:c.831C>G	9.37:g.130825860G>C						NAIF1_ENST00000488519.1_5'UTR	p.G277G	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN			2	1050	-			277					B3KV81|Q8WU12	Silent	SNP	ENST00000373078.4	37	c.831C>G	CCDS6889.1																																																																																				0.642	NAIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054330.1	NM_197956		20	29	0	0	0	1	0	20	29					C	130825860	G	C	130825860	2	2	448	1	0	0	0	0	0	0	0	1	10146	1306	46	4		4	NAIF1	9	130825860	Silent	SNP	G	TCGA-FY-A76V-01A-11D-A397-08		130825860	10387571	10	9138											
KRTAP5-8	57830	broad.mit.edu	37	chr11	71249370	71249370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctgctcccagtgcagctGctataagccctgctgttgct	11	13	0	0			TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr11:71249370G>A	ENST00000398534.3	+	1	300	c.269G>A	c.(268-270)tGc>tAc	p.C90Y		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	90	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						CAGTGCAGCTGCTATAAGCCC	0.637																																						ENST00000398534.3																			0				cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						c.(268-270)tGc>tAc		keratin associated protein 5-8							76	101	92					11																	71249370		2200	4294	6494	SO:0001583	missense	57830					extracellular region|keratin filament	structural constituent of epidermis	g.chr11:71249370G>A	AB126077	CCDS41683.1	11q13.4	2008-02-05			ENSG00000241233	ENSG00000241233		"Keratin associated proteins"	23603	protein-coding gene	gene with protein product						15144888	Standard	NM_021046		Approved	KRTAP5.8, UHSKerB, KRTAP5-2	uc001oqr.1	O75690	OTTHUMG00000057571	ENST00000398534.3:c.269G>A	11.37:g.71249370G>A	ENSP00000420723:p.Cys90Tyr						p.C90Y	NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN			1	300	+			90			9 X 4 AA repeats of C-C-X-P.		Q6L8G7|Q6UTX6	Missense_Mutation	SNP	ENST00000398534.3	37	c.269G>A	CCDS41683.1	.	.	.	.	.	.	.	.	.	.	-	4.546	0.101476	0.08731	.	.	ENSG00000241233	ENST00000398534	T	0.01838	4.61	1.62	1.62	0.23740	.	.	.	.	.	T	0.09202	0.0227	M	0.84219	2.685	0.27020	N	0.964493	D	0.56035	0.974	P	0.61533	0.89	T	0.07927	-1.0747	9	0.87932	D	0	.	5.2334	0.15434	0.0:0.0:0.6591:0.3409	.	90	O75690	KRA58_HUMAN	Y	90	ENSP00000420723:C90Y	ENSP00000420723:C90Y	C	+	2	0	KRTAP5-8	70927018	1.000000	0.71417	0.364000	0.25888	0.005000	0.04900	4.521000	0.60532	1.232000	0.43678	0.405000	0.27470	TGC		0.637	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046		8	285	0	0	0	1	0	8	285					A	71249370	G	A	71249370	3	1	448	1	0	0	0	0	1	0	0	0	8567	1319	46	2	271	2	KRTAP5-8	11	71249370	Missense_Mutation	SNP	G	TCGA-FY-A76V-01A-11D-A397-08		71249370	63757146	11	9139											
NDUFA9	4704	broad.mit.edu	37	chr12	4766977	4766977	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aacacagcaatgtggtcatcAatcttattggacgagactgg	10	8	3	1			TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr12:4766977A>T	ENST00000266544.5	+	4	402	c.382A>T	c.(382-384)Aat>Tat	p.N128Y	RP11-500M8.7_ENST00000536588.1_3'UTR	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	128					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|sodium ion transport (GO:0006814)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						TGTGGTCATCAATCTTATTGG	0.423																																					Colon(75;996 1244 23946 25294 29232)	ENST00000266544.5																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(382-384)Aat>Tat		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	NADH(DB00157)						205	187	193					12																	4766977		2203	4300	6503	SO:0001583	missense	4704				mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr12:4766977A>T	AF050641	CCDS8532.1	12p13.3	2011-09-14	2002-08-29		ENSG00000139180	ENSG00000139180		"Mitochondrial respiratory chain complex / Complex I", "Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	7693	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 22E, member 1", "complex I 39kDa subunit"	603834	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 (39kD)"	NDUFS2L		8486360, 19027726	Standard	NM_005002		Approved	SDR22E1, CI-39k	uc001qnc.3	Q16795		ENST00000266544.5:c.382A>T	12.37:g.4766977A>T	ENSP00000266544:p.Asn128Tyr						p.N128Y	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN			4	402	+			128					Q14076|Q2NKX0	Missense_Mutation	SNP	ENST00000266544.5	37	c.382A>T	CCDS8532.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.816208	0.90790	.	.	ENSG00000139180	ENST00000266544	D	0.94184	-3.37	5.19	5.19	0.71726	NAD(P)-binding domain (1);NmrA-like (1);	0.000000	0.85682	D	0.000000	D	0.97420	0.9156	M	0.93241	3.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98402	1.0568	10	0.87932	D	0	-16.1511	14.04	0.64669	1.0:0.0:0.0:0.0	.	128;128	A8K4V2;Q16795	.;NDUA9_HUMAN	Y	128	ENSP00000266544:N128Y	ENSP00000266544:N128Y	N	+	1	0	NDUFA9	4637238	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.461000	0.90372	1.953000	0.56701	0.533000	0.62120	AAT		0.423	NDUFA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398900.2	NM_005002		25	89	0	0	0	1	0	25	89					T	4766977	A	T	4766977	3	4	448	1	0	0	0	0	1	0	0	0	10272	130	5	5	396	5	NDUFA9	12	4766977	Missense_Mutation	SNP	A	TCGA-FY-A76V-01A-11D-A397-08		4766977	129084918	12	9140											
CS	1431	broad.mit.edu	37	chr12	56668575	56668575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttacccgtcctgagttgaGtgtgttccagatgtagtctc	11	10	1	3			TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr12:56668575G>A	ENST00000351328.3	-	9	1196	c.1006C>T	c.(1006-1008)Ctc>Ttc	p.L336F	CS_ENST00000548567.1_Missense_Mutation_p.L270F|CS_ENST00000542324.2_Missense_Mutation_p.L323F	NM_004077.2	NP_004068.2	O75390	CISY_HUMAN	citrate synthase	336					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	citrate (Si)-synthase activity (GO:0004108)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		CCTGAGTTGAGTGTGTTCCAG	0.433																																						ENST00000548567.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17						c.(808-810)Ctc>Ttc		citrate synthase							134	108	117					12																	56668575		2203	4300	6503	SO:0001583	missense	1431				cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity	g.chr12:56668575G>A		CCDS8913.1	12q13.2	2012-10-02				ENSG00000062485	2.3.3.1		2422	protein-coding gene	gene with protein product		118950					Standard	NM_004077		Approved		uc001sks.1	O75390	OTTHUMG00000170344	ENST00000351328.3:c.1006C>T	12.37:g.56668575G>A	ENSP00000342056:p.Leu336Phe					CS_ENST00000542324.2_Missense_Mutation_p.L323F|CS_ENST00000351328.3_Missense_Mutation_p.L336F	p.L270F			O75390	CISY_HUMAN		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)	10	1278	-		Myeloproliferative disorder(1001;0.000374)	336					Q71UT9|Q7KZH0|Q96FZ8|Q9BWN8	Missense_Mutation	SNP	ENST00000351328.3	37	c.808C>T	CCDS8913.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579235	0.86645	.	.	ENSG00000062485	ENST00000548567;ENST00000351328;ENST00000548746;ENST00000542324	.	.	.	5.56	5.56	0.83823	Citrate synthase-like, large alpha subdomain (1);Citrate synthase-like, core (1);	0.000000	0.85682	D	0.000000	D	0.87799	0.6268	H	0.98048	4.135	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.81914	0.995;0.991;0.995	D	0.91063	0.4887	9	0.87932	D	0	-11.6215	12.7665	0.57394	0.0793:0.0:0.9207:0.0	.	323;291;336	B4DJV2;B3KTN4;O75390	.;.;CISY_HUMAN	F	270;336;9;323	.	ENSP00000342056:L336F	L	-	1	0	CS	54954842	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.674000	0.83992	2.797000	0.96272	0.561000	0.74099	CTC		0.433	CS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408588.2	NM_004077		5	67	0	0	0	1	0	5	67					A	56668575	G	A	56668575	3	1	448	1	0	0	0	0	1	0	0	0	3924	1029	36	2	406	2	CS	12	56668575	Missense_Mutation	SNP	G	TCGA-FY-A76V-01A-11D-A397-08	51901598	56668575	77183320	13	9141											
SLC26A10	65012	broad.mit.edu	37	chr12	58019099	58019099	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggccagagaagtggtgCaggtgagggagagggtaggt	22	4	0	3			TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr12:58019099C>T	ENST00000320442.4	+	12	1770	c.1459C>T	c.(1459-1461)Cag>Tag	p.Q487*	SLC26A10_ENST00000490243.1_3'UTR|SLC26A10_ENST00000379218.2_3'UTR	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	487	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.					integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					AGAAGTGGTGCAGGTGAGGGA	0.562																																						ENST00000320442.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19						c.(1459-1461)Cag>Tag		solute carrier family 26, member 10							191	181	184					12																	58019099		2203	4300	6503	SO:0001587	stop_gained	65012					integral to membrane	antiporter activity	g.chr12:58019099C>T		CCDS8949.2	12q13	2013-07-18			ENSG00000135502	ENSG00000135502		"Solute carriers"	14470	protein-coding gene	gene with protein product							Standard	NM_133489		Approved		uc001spe.3	Q8NG04	OTTHUMG00000128505	ENST00000320442.4:c.1459C>T	12.37:g.58019099C>T	ENSP00000320217:p.Gln487*					SLC26A10_ENST00000379218.2_3'UTR|SLC26A10_ENST00000490243.1_3'UTR	p.Q487*	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN			12	1770	+	Melanoma(17;0.122)		487			STAS.		A6NMJ2|B6ZDQ3|Q6ZWI7	Nonsense_Mutation	SNP	ENST00000320442.4	37	c.1459C>T	CCDS8949.2	.	.	.	.	.	.	.	.	.	.	.	38	7.004512	0.97994	.	.	ENSG00000135502	ENST00000320442	.	.	.	4.4	3.51	0.40186	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	10.6345	0.45556	0.0:0.9055:0.0:0.0945	.	.	.	.	X	487	.	ENSP00000320217:Q487X	Q	+	1	0	SLC26A10	56305366	0.943000	0.32029	0.961000	0.40146	0.953000	0.61014	1.952000	0.40343	1.236000	0.43740	-0.119000	0.15052	CAG		0.562	SLC26A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250311.2			4	88	0	0	0	1	0	4	88					T	58019099	C	T	58019099	4	4	448	1	0	0	0	0	0	1	0	0	14515	711	25	2	1505	2	SLC26A10	12	58019099	Nonsense_Mutation	SNP	C	TCGA-FY-A76V-01A-11D-A397-08	1350524	58019099	75832796	14	9142											
DPY19L2	283417	broad.mit.edu	37	chr12	63976288	63976288	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagtaaacactaacaactgCaatgtgtgaaaagccagcta	8	9	0	1			TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr12:63976288C>A	ENST00000324472.4	-	18	1806	c.1623G>T	c.(1621-1623)ttG>ttT	p.L541F	DPY19L2_ENST00000413230.2_5'UTR	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	541					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		CTAACAACTGCAATGTGTGAA	0.308																																						ENST00000324472.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1621-1623)ttG>ttT		dpy-19-like 2 (C. elegans)							64	58	60					12																	63976288		2203	4300	6503	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:63976288C>A		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"spermatogenesis associated 34"	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.1623G>T	12.37:g.63976288C>A	ENSP00000315988:p.Leu541Phe					DPY19L2_ENST00000413230.2_5'UTR	p.L541F	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	18	1806	-			541					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.1623G>T	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.810449	0.32053	.	.	ENSG00000177990	ENST00000324472	T	0.61627	0.09	3.35	3.35	0.38373	.	0.071863	0.56097	D	0.000022	T	0.74351	0.3705	M	0.86178	2.8	0.80722	D	1	P	0.50943	0.94	P	0.62560	0.904	T	0.78244	-0.2279	9	.	.	.	.	12.5508	0.56225	0.0:1.0:0.0:0.0	.	541	Q6NUT2	D19L2_HUMAN	F	541	ENSP00000315988:L541F	.	L	-	3	2	DPY19L2	62262555	1.000000	0.71417	0.689000	0.30133	0.103000	0.19146	2.762000	0.47597	1.842000	0.53543	0.313000	0.20887	TTG		0.308	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		15	47	1	0	7.93312e-07	1	8.36194e-07	15	47					A	63976288	C	A	63976288	3	1	448	1	0	0	0	0	1	0	0	0	4741	709	25	4	673	4	DPY19L2	12	63976288	Missense_Mutation	SNP	C	TCGA-FY-A76V-01A-11D-A397-08	5957189	63976288	69875607	15	9143											
MAP2K1	5604	broad.mit.edu	37	chr15	66729094	66729099	+	In_Frame_Del	DEL	TGGAGA	TGGAGA	-													ctttctccagctaattcatcTggagatcaaacccgcaatcc							TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr15:66729094_66729099delTGGAGA	ENST00000307102.5	+	3	833_838	c.302_307delTGGAGA	c.(301-309)ctggagatc>ctc	p.EI102del		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	102	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vesicle transport along microtubule (GO:0047496)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20					Bosutinib(DB06616)|Trametinib(DB08911)	CTAATTCATCTGGAGATCAAACCCGC	0.447																																						ENST00000307102.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						c.(301-309)ctc>c		mitogen-activated protein kinase kinase 1																																				SO:0001651	inframe_deletion	5604				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:66729094_66729099delTGGAGA	L11284	CCDS10216.1	15q22.1-q22.33	2014-09-17			ENSG00000169032	ENSG00000169032	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6840	protein-coding gene	gene with protein product		176872		PRKMK1		9465908, 8388392	Standard	NM_002755		Approved	MEK1, MAPKK1	uc010bhq.3	Q02750	OTTHUMG00000133196	ENST00000307102.5:c.302_307delTGGAGA	15.37:g.66729094_66729099delTGGAGA	ENSP00000302486:p.Glu102_Ile103del						p.LEI101del	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN			3	833_838	+			101			Protein kinase.			In_Frame_Del	DEL	ENST00000307102.5	37	c.302_307delTGGAGA	CCDS10216.1																																																																																				0.447	MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256906.4			22	50						22	50	---	---	---	---	-	66729099	TGGAGA	-	66729094	7	5	448	1	0	1	0	1	0	0	0	0	9236	1580	55	0	312	0	MAP2K1	15	66729094	In_Frame_Del	DEL	TGGAGA	TCGA-FY-A76V-01A-11D-A397-08		66729094	35802298	16	9144											
DDX52	11056	broad.mit.edu	37	chr17	35992180	35992180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcttgcatttggattggcGtaggcatttggaaacctgca	13	7	0	0	rs370696391		TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr17:35992180G>A	ENST00000349699.2	-	4	609	c.566C>T	c.(565-567)aCg>aTg	p.T189M	DDX52_ENST00000394367.3_Missense_Mutation_p.T81M	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	189						membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				TTGGATTGGCGTAGGCATTTG	0.418																																						ENST00000349699.2																			0				biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17						c.(565-567)aCg>aTg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 52		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	172	156	161		566	5.7	0.4	17		161	0,8600		0,0,4300	no	missense	DDX52	NM_007010.3	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	189/600	35992180	1,13005	2203	4300	6503	SO:0001583	missense	11056					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr17:35992180G>A	AF077033	CCDS11323.1	17q21.1	2014-05-06			ENSG00000141141	ENSG00000278053		"DEAD-boxes"	20038	protein-coding gene	gene with protein product		612500				11124703	Standard	XM_006721650		Approved	ROK1	uc002hoi.2	Q9Y2R4	OTTHUMG00000188475	ENST00000349699.2:c.566C>T	17.37:g.35992180G>A	ENSP00000268854:p.Thr189Met					DDX52_ENST00000394367.3_Missense_Mutation_p.T81M	p.T189M	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN			4	609	-		Breast(25;0.00637)|Ovarian(249;0.15)	189					Q86YG1|Q8N213|Q9NVE0|Q9Y482	Missense_Mutation	SNP	ENST00000349699.2	37	c.566C>T	CCDS11323.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166542	0.78339	2.27E-4	0.0	ENSG00000141141	ENST00000349699;ENST00000394367	T;T	0.20069	2.1;2.1	5.73	5.73	0.89815	RNA helicase, DEAD-box type, Q motif (1);DEAD-like helicase (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.097279	0.64402	D	0.000001	T	0.56630	0.1998	M	0.89534	3.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.64592	-0.6371	10	0.87932	D	0	.	18.8798	0.92352	0.0:0.0:1.0:0.0	.	188;189	Q59H21;Q9Y2R4	.;DDX52_HUMAN	M	189;81	ENSP00000268854:T189M;ENSP00000377893:T81M	ENSP00000268854:T189M	T	-	2	0	DDX52	33066293	1.000000	0.71417	0.424000	0.26647	0.526000	0.34562	9.055000	0.93873	2.714000	0.92807	0.655000	0.94253	ACG		0.418	DDX52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256795.1	NM_152300		5	116	0	0	0	1	0	5	116					A	35992180	G	A	35992180	3	1	448	1	0	0	0	0	1	0	0	0	4370	1145	40	1	1281	1	DDX52	17	35992180	Missense_Mutation	SNP	G	TCGA-FY-A76V-01A-11D-A397-08		35992180	45203030	17	9145											
RYR1	6261	broad.mit.edu	37	chr19	39008171	39008171	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tacctgccccgatggtgggaGcgcgggcccgaggcaccccc	15	17	0	0			TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr19:39008171G>C	ENST00000359596.3	+	66	9858	c.9858G>C	c.(9856-9858)gaG>gaC	p.E3286D	RYR1_ENST00000355481.4_Missense_Mutation_p.E3286D|RYR1_ENST00000360985.3_Missense_Mutation_p.E3286D			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3286					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GATGGTGGGAGCGCGGGCCCG	0.682																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(9856-9858)gaG>gaC		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						38	32	34					19																	39008171		2203	4298	6501	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39008171G>C	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.9858G>C	19.37:g.39008171G>C	ENSP00000352608:p.Glu3286Asp					RYR1_ENST00000359596.3_Missense_Mutation_p.E3286D|RYR1_ENST00000360985.3_Missense_Mutation_p.E3286D	p.E3286D	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		66	9989	+	all_cancers(60;7.91e-06)		3286					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.9858G>C	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	7.554	0.663218	0.14710	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.88201	-2.35;-2.35;-2.35	3.83	3.83	0.44106	.	0.000000	0.64402	U	0.000002	D	0.88317	0.6404	M	0.65320	2	0.38866	D	0.956595	D;D;P	0.54207	0.965;0.965;0.941	P;P;B	0.50162	0.633;0.633;0.43	D	0.88162	0.2858	10	0.49607	T	0.09	.	7.4713	0.27351	0.2002:0.0:0.7998:0.0	.	3286;3286;3286	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	D	3286;3286;3286;206	ENSP00000352608:E3286D;ENSP00000347667:E3286D;ENSP00000354254:E3286D	ENSP00000347667:E3286D	E	+	3	2	RYR1	43700011	0.978000	0.34361	1.000000	0.80357	0.377000	0.30045	0.289000	0.18957	1.968000	0.57251	0.205000	0.17691	GAG		0.682	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			16	18	0	0	0	1	0	16	18					C	39008171	G	C	39008171	3	2	448	1	0	0	0	0	1	0	0	0	13768	962	34	4	10120	4	RYR1	19	39008171	Missense_Mutation	SNP	G	TCGA-FY-A76V-01A-11D-A397-08		39008171	20120812	18	9146											
BPIL3	128859	broad.mit.edu	37	chr20	31622089	31622089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacaggcatgaccgtcactGgcaagaggtgagtgtggcag	15	10	1	3			TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr20:31622089G>A	ENST00000349552.1	+	3	295	c.295G>A	c.(295-297)Ggc>Agc	p.G99S		NM_174897.2	NP_777557.1	Q8NFQ5	BPIB6_HUMAN	BPI fold containing family B, member 6	99						extracellular region (GO:0005576)	lipid binding (GO:0008289)										GACCGTCACTGGCAAGAGGTG	0.542																																						ENST00000349552.1																			0											c.(295-297)Ggc>Agc		BPI fold containing family B, member 6							119	93	102					20																	31622089		2203	4300	6503	SO:0001583	missense	128859					extracellular region	lipid binding	g.chr20:31622089G>A	AF465767	CCDS13211.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000167104	ENSG00000167104		"BPI fold containing"	16504	protein-coding gene	gene with protein product		614110	"bactericidal/permeability-increasing protein-like 3"	BPIL3		12185532, 21787333	Standard	NM_174897		Approved	LPLUNC6	uc010zuc.2	Q8NFQ5	OTTHUMG00000032238	ENST00000349552.1:c.295G>A	20.37:g.31622089G>A	ENSP00000344929:p.Gly99Ser						p.G99S	NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN			3	295	+			99						Missense_Mutation	SNP	ENST00000349552.1	37	c.295G>A	CCDS13211.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.485218	0.84854	.	.	ENSG00000167104	ENST00000349552	T	0.07444	3.19	4.7	4.7	0.59300	.	0.000000	0.56097	D	0.000025	T	0.25680	0.0625	M	0.76002	2.32	0.42137	D	0.99149	D	0.89917	1.0	D	0.97110	1.0	T	0.03898	-1.0994	10	0.20519	T	0.43	.	13.1161	0.59301	0.0:0.0:1.0:0.0	.	99	Q8NFQ5	BPIB6_HUMAN	S	99	ENSP00000344929:G99S	ENSP00000344929:G99S	G	+	1	0	BPIFB6	31085750	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.939000	0.63526	2.146000	0.66826	0.561000	0.74099	GGC		0.542	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078658.2	NM_174897		6	102	0	0	0	1	0	6	102					A	31622089	G	A	31622089	3	1	448	1	0	0	0	0	1	0	0	0	1493	1348	47	2	305	2	BPIL3	20	31622089	Missense_Mutation	SNP	G	TCGA-FY-A76V-01A-11D-A397-08		31622089	31403431	19	9147											
ARHGAP4	393	broad.mit.edu	37	chrX	153186199	153186199	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctcctcctgccgctcggCctcccggagcttggcctcgg	11	19	1	0			TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chrX:153186199C>T	ENST00000350060.5	-	5	603	c.562G>A	c.(562-564)Gcc>Acc	p.A188T	ARHGAP4_ENST00000370028.3_Missense_Mutation_p.A188T|ARHGAP4_ENST00000393721.1_Intron|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.A167T|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.A165T	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	188					apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCCGCTCGGCCTCCCGGAGC	0.652																																						ENST00000370028.3																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14						c.(562-564)Gcc>Acc		Rho GTPase activating protein 4							54	51	52					X																	153186199		2203	4299	6502	SO:0001583	missense	393				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chrX:153186199C>T	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"Rho GTPase activating proteins"	674	protein-coding gene	gene with protein product	"Rho-GAP hematopoietic protein C1"	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.562G>A	X.37:g.153186199C>T	ENSP00000203786:p.Ala188Thr					ARHGAP4_ENST00000393721.1_Intron|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.A167T|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.A188T|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.A165T	p.A188T	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN			5	619	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		188					Q14144|Q86UY3	Missense_Mutation	SNP	ENST00000350060.5	37	c.562G>A	CCDS14736.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.42|17.42	3.385952|3.385952	0.61956|0.61956	.|.	.|.	ENSG00000089820|ENSG00000089820	ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206;ENST00000442262;ENST00000422091|ENST00000418750	T;T;T;T;T;T|.	0.52526|.	0.66;0.66;0.66;0.66;0.66;0.66|.	4.89|4.89	4.03|4.03	0.46877|0.46877	.|.	0.157081|.	0.30293|.	N|.	0.009950|.	T|T	0.61887|0.61887	0.2383|0.2383	L|L	0.56280|0.56280	1.765|1.765	0.58432|0.58432	D|D	0.999997|0.999997	B;B|.	0.33940|.	0.433;0.134|.	B;B|.	0.35039|.	0.194;0.079|.	T|T	0.60378|0.60378	-0.7275|-0.7275	10|6	0.62326|0.39692	D|T	0.03|0.17	.|.	11.8787|11.8787	0.52562|0.52562	0.0:0.9085:0.0:0.0915|0.0:0.9085:0.0:0.0915	.|.	188;188|.	Q86UY3;P98171|.	.;RHG04_HUMAN|.	T|D	188;188;167;165;165;165|35	ENSP00000359045:A188T;ENSP00000203786:A188T;ENSP00000359033:A167T;ENSP00000444169:A165T;ENSP00000398259:A165T;ENSP00000413782:A165T|.	ENSP00000203786:A188T|ENSP00000385042:G197D	A|G	-|-	1|2	0|0	ARHGAP4|ARHGAP4	152839393|152839393	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.511000|0.511000	0.34104|0.34104	7.430000|7.430000	0.80321|0.80321	1.139000|1.139000	0.42245|0.42245	0.529000|0.529000	0.55759|0.55759	GCC|GGC		0.652	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		43	12	0	0	0	1	0	43	12					T	153186199	C	T	153186199	3	4	448	1	0	0	0	0	1	0	0	0	885	739	26	2	2474	2	ARHGAP4	23	153186199	Missense_Mutation	SNP	C	TCGA-FY-A76V-01A-11D-A397-08		153186199	2084361	20	9148											
C3orf15	89876	broad.mit.edu	37	chr3	119428733	119428733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccattcaatgttgtttatgCcgtatccaagtaagtaacca	7	9	1	0			TCGA-GE-A2C6-01A-11D-A17V-08	TCGA-GE-A2C6-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51f6ca4f-fc2a-4c99-830c-e9e09c255e80	394411ff-b0f2-4e4a-b5a3-843a397d00dc	g.chr3:119428733C>T	ENST00000273390.5	+	5	568	c.491C>T	c.(490-492)gCc>gTc	p.A164V	MAATS1_ENST00000463700.1_Missense_Mutation_p.A164V	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	164						mitochondrion (GO:0005739)											GTTGTTTATGCCGTATCCAAG	0.328																																						ENST00000273390.5																			0											c.(490-492)gCc>gTc		MYCBP-associated, testis expressed 1							205	201	203					3																	119428733		2202	4300	6502	SO:0001583	missense	89876							g.chr3:119428733C>T	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"AMY-1-associating protein expressed in testis 1", "MYCBP-binding protein", "spermatogenesis associated 26"	609910	"chromosome 3 open reading frame 15", "MYCBP/AMY-1-associated, testis expressed 1"	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.491C>T	3.37:g.119428733C>T	ENSP00000273390:p.Ala164Val					MAATS1_ENST00000463700.1_Missense_Mutation_p.A164V	p.A164V	NM_033364.3	NP_203528.2					5	568	+								A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	c.491C>T	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	C	8.014	0.758185	0.15846	.	.	ENSG00000183833	ENST00000273390;ENST00000463700	T;T	0.50813	1.72;0.73	5.34	4.46	0.54185	.	0.368951	0.29417	N	0.012220	T	0.46092	0.1375	L	0.47716	1.5	0.34195	D	0.672468	B;P;B;P;B	0.39480	0.291;0.604;0.113;0.675;0.383	B;B;B;B;B	0.42771	0.316;0.397;0.062;0.298;0.116	T	0.58340	-0.7653	10	0.30078	T	0.28	-10.2043	14.624	0.68608	0.1473:0.8527:0.0:0.0	.	164;102;164;164;164	Q7Z4T9;Q7Z4T9-3;Q4G0Y0;Q7Z4T9-7;Q7Z4T9-2	AAT1_HUMAN;.;.;.;.	V	164	ENSP00000273390:A164V;ENSP00000419489:A164V	ENSP00000273390:A164V	A	+	2	0	C3orf15	120911423	0.211000	0.23529	0.517000	0.27799	0.473000	0.32948	1.353000	0.34045	1.372000	0.46190	0.655000	0.94253	GCC		0.328	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		3	49	0	0	0	0.000248	0	3	49					T	119428733	C	T	119428733	3	4	449	1	0	0	0	0	1	0	0	0	2209	739	26	2	509	2	C3orf15	3	119428733	Missense_Mutation	SNP	C	TCGA-GE-A2C6-01A-11D-A17V-08		119428733	78593697	1	9149											
UNC5A	90249	broad.mit.edu	37	chr5	176304656	176304656	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgtggggagcccagccctgaCagctggagcctgcgcctcaa	14	14	1	1			TCGA-GE-A2C6-01A-11D-A17V-08	TCGA-GE-A2C6-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51f6ca4f-fc2a-4c99-830c-e9e09c255e80	394411ff-b0f2-4e4a-b5a3-843a397d00dc	g.chr5:176304656C>G	ENST00000329542.4	+	10	1861	c.1587C>G	c.(1585-1587)gaC>gaG	p.D529E	UNC5A_ENST00000261961.3_Missense_Mutation_p.D489E	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	529	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGCCCTGACAGCTGGAGCC	0.647																																						ENST00000329542.4																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34						c.(1585-1587)gaC>gaG		unc-5 homolog A (C. elegans)							37	34	35					5																	176304656		2203	4298	6501	SO:0001583	missense	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176304656C>G	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"Immunoglobulin superfamily / I-set domain containing"	12567	protein-coding gene	gene with protein product		607869	"unc5 (C.elegans homolog) a"				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.1587C>G	5.37:g.176304656C>G	ENSP00000332737:p.Asp529Glu					UNC5A_ENST00000261961.3_Missense_Mutation_p.D489E	p.D529E	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		10	1861	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	529			ZU5.		B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP	ENST00000329542.4	37	c.1587C>G	CCDS34299.1	.	.	.	.	.	.	.	.	.	.	C	1.424	-0.572005	0.03882	.	.	ENSG00000113763	ENST00000329542;ENST00000261961	T;T	0.38401	1.14;1.14	5.22	0.923	0.19413	ZU5 (3);	0.340460	0.31051	N	0.008348	T	0.13030	0.0316	N	0.03281	-0.365	0.37628	D	0.921555	B	0.02656	0.0	B	0.12837	0.008	T	0.36335	-0.9752	10	0.02654	T	1	-11.7491	11.2997	0.49298	0.081:0.5262:0.3928:0.0	.	529	Q6ZN44	UNC5A_HUMAN	E	529;489	ENSP00000332737:D529E;ENSP00000261961:D489E	ENSP00000261961:D489E	D	+	3	2	UNC5A	176237262	0.891000	0.30450	0.962000	0.40283	0.874000	0.50279	-0.114000	0.10757	0.151000	0.19162	0.305000	0.20034	GAC		0.647	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		3	35	0	0	0	0.000248	0	3	35					G	176304656	C	G	176304656	3	3	449	1	0	0	0	0	1	0	0	0	16988	477	17	4	1625	4	UNC5A	5	176304656	Missense_Mutation	SNP	C	TCGA-GE-A2C6-01A-11D-A17V-08		176304656	4610604	2	9150											
TRERF1	55809	broad.mit.edu	37	chr6	42236552	42236552	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgcatctgttgcatgtgCtgtgacagcatctgtggggc	14	9	2	1			TCGA-GE-A2C6-01A-11D-A17V-08	TCGA-GE-A2C6-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51f6ca4f-fc2a-4c99-830c-e9e09c255e80	394411ff-b0f2-4e4a-b5a3-843a397d00dc	g.chr6:42236552C>T	ENST00000372922.4	-	5	1339	c.777G>A	c.(775-777)caG>caA	p.Q259Q	TRERF1_ENST00000541110.1_Silent_p.Q259Q|TRERF1_ENST00000340840.2_Silent_p.Q259Q|TRERF1_ENST00000372917.4_Silent_p.Q259Q|TRERF1_ENST00000354325.2_Silent_p.Q259Q	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	259	Gln-rich.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTTGCATGTGCTGTGACAGCA	0.582																																						ENST00000541110.1																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45						c.(775-777)caG>caA		transcriptional regulating factor 1							64	59	61					6																	42236552		2203	4300	6503	SO:0001819	synonymous_variant	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42236552C>T	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"breast cancer anti-estrogen resistance 2"	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.777G>A	6.37:g.42236552C>T						TRERF1_ENST00000372922.4_Silent_p.Q259Q|TRERF1_ENST00000340840.2_Silent_p.Q259Q|TRERF1_ENST00000372917.4_Silent_p.Q259Q|TRERF1_ENST00000354325.2_Silent_p.Q259Q	p.Q259Q			Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		5	1345	-	Colorectal(47;0.196)		259			Gln-rich.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Silent	SNP	ENST00000372922.4	37	c.777G>A	CCDS4867.1																																																																																				0.582	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		3	52	0	0	0	0.004672	0	3	52					T	42236552	C	T	42236552	2	4	449	1	0	0	0	0	0	0	0	1	16472	796	28	2		2	TRERF1	6	42236552	Silent	SNP	C	TCGA-GE-A2C6-01A-11D-A17V-08		42236552	128878515	3	9151											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-GE-A2C6-01A-11D-A17V-08	TCGA-GE-A2C6-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51f6ca4f-fc2a-4c99-830c-e9e09c255e80	394411ff-b0f2-4e4a-b5a3-843a397d00dc	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		5	26	0	0	0	0.001168	0	5	26					T	140453136	A	T	140453136	3	4	449	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-GE-A2C6-01A-11D-A17V-08		140453136	18685527	4	9152											
C10orf140	387640	broad.mit.edu	37	chr10	21805472	21805473	+	In_Frame_Ins	INS	-	-	CCTCCT													ggccccgctgcccccctcctINScctcctcttcctcctcctcc							TCGA-GE-A2C6-01A-11D-A17V-08	TCGA-GE-A2C6-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51f6ca4f-fc2a-4c99-830c-e9e09c255e80	80bdafd1-9062-4fec-840c-83a4f0e9ee84	g.chr10:21805472_21805473insCCTCCT	ENST00000449193.2	-	4	3531_3532	c.1279_1280insAGGAGG	c.(1279-1281)gag>gAGGAGGag	p.427_427E>EEE	SKIDA1_ENST00000444772.3_In_Frame_Ins_p.348_348E>EEE|SKIDA1_ENST00000487107.1_5'Flank	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	346						nucleus (GO:0005634)											GCccccctcctcctcctcttcc	0.614																																						ENST00000449193.2																			0											c.(1279-1281)gga>AGGAGGgga		SKI/DACH domain containing 1				3269,447		1507,255,96						3.2	1.0		dbSNP_132	7	4288,3500		1380,1528,986	no	coding	C10orf140	NM_207371.3		2887,1783,1082	A1A1,A1R,RR		44.9409,12.0291,34.3098				7557,3947				SO:0001652	inframe_insertion	387640							g.chr10:21805472_21805473insCCTCCT	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 140"	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1274_1279dupAGGAGG	10.37:g.21805473_21805478dupCCTCCT	ENSP00000410041:p.GluGlu427dup					SKIDA1_ENST00000444772.3_In_Frame_Ins_p.347_348insRR	p.426_427insRR	NM_207371.3	NP_997254.3					4	3531_3532	-								B1ANA5|Q6ZMX4|Q8N3C3	In_Frame_Ins	INS	ENST00000449193.2	37	c.1279_1280insAGGAGG	CCDS44363.1																																																																																				0.614	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		2	4						2	4	---	---	---	---	CCTCCT	21805473	-	CCTCCT	21805472	7	5	449	1	0	1	1	0	0	0	0	0	1595	1551	54	0	1450	0	C10orf140	10	21805472	In_Frame_Ins	INS	-	TCGA-GE-A2C6-01A-11D-A17V-08		21805472	113729275	5	9153											
RTN3	10313	broad.mit.edu	37	chr11	63487681	63487681	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagctgcatcaagatcagccTgatattcttggaaggagtcc	11	9	3	2			TCGA-GE-A2C6-01A-11D-A17V-08	TCGA-GE-A2C6-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51f6ca4f-fc2a-4c99-830c-e9e09c255e80	394411ff-b0f2-4e4a-b5a3-843a397d00dc	g.chr11:63487681T>C	ENST00000377819.5	+	3	1861	c.1707T>C	c.(1705-1707)ccT>ccC	p.P569P	RTN3_ENST00000341307.2_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000540798.1_Silent_p.P457P|RTN3_ENST00000339997.4_Silent_p.P550P|RTN3_ENST00000356000.3_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	569					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AAGATCAGCCTGATATTCTTG	0.413																																						ENST00000377819.5																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(1705-1707)ccT>ccC		reticulon 3							75	76	76					11																	63487681		2201	4298	6499	SO:0001819	synonymous_variant	10313				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		g.chr11:63487681T>C	AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"neuroendocrine-specific protein-like 2", "NSP-like protein II", "isoforme III", "ASY interacting protein", "homolog of ASY protein"	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.1707T>C	11.37:g.63487681T>C						RTN3_ENST00000537981.1_Intron|RTN3_ENST00000339997.4_Silent_p.P550P|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000540798.1_Silent_p.P457P|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000341307.2_Intron	p.P569P	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN			3	1861	+			569					B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Silent	SNP	ENST00000377819.5	37	c.1707T>C	CCDS58141.1																																																																																				0.413	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054		3	47	0	0	0	0.004672	0	3	47					C	63487681	T	C	63487681	2	2	449	1	0	0	0	0	0	0	0	1	13727	1567	55	3		3	RTN3	11	63487681	Silent	SNP	T	TCGA-GE-A2C6-01A-11D-A17V-08		63487681	71518835	6	9154											
INTS3	65123	broad.mit.edu	37	chr1	153719545	153719545	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaggatacctgccgtactcAggtaaggccagaaagaaaag	12	9	1	2			TCGA-H2-A26U-01A-11D-A16O-08	TCGA-H2-A26U-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a84193e-84f1-4729-b467-480c8b73e0e7	539571d0-752a-4bc0-ad14-71dbbe052642	g.chr1:153719545A>G	ENST00000318967.2	+	4	999	c.431A>G	c.(430-432)cAg>cGg	p.Q144R	INTS3_ENST00000456435.1_5'UTR|INTS3_ENST00000435409.2_Splice_Site_p.Q144R|RP11-216N14.8_ENST00000453778.1_RNA	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	144					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGCCGTACTCAGGTAAGGCCA	0.463																																						ENST00000318967.2																			0				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.e4+1		integrator complex subunit 3							67	68	68					1																	153719545		2203	4300	6503	SO:0001630	splice_region_variant	65123				DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding	g.chr1:153719545A>G	BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"sensor of single-strand DNA complex subunit A"	611347	"chromosome 1 open reading frame 60"	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.432+1A>G	1.37:g.153719545A>G						INTS3_ENST00000435409.2_Splice_Site_p.Q144_splice|INTS3_ENST00000456435.1_5'UTR|RP11-216N14.8_ENST00000453778.1_RNA	p.Q144_splice	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		4	999	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		144					A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Splice_Site	SNP	ENST00000318967.2	37	c.432_splice	CCDS1052.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.672040	0.88348	.	.	ENSG00000143624	ENST00000318967;ENST00000435409	.	.	.	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.69895	0.3162	M	0.75615	2.305	0.58432	D	0.999996	P	0.48294	0.908	P	0.61397	0.888	T	0.75082	-0.3443	9	0.87932	D	0	.	12.3981	0.55397	1.0:0.0:0.0:0.0	.	144	Q68E01-2	.	R	144	.	ENSP00000318641:Q144R	Q	+	2	0	INTS3	151986169	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.389000	0.90172	2.029000	0.59856	0.459000	0.35465	CAG		0.463	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2	NM_023015	Missense_Mutation	4	76	0	0	0	0.000248	0	4	76					G	153719545	A	G	153719545	5	3	450	1	0	0	0	0	0	0	1	0	7779	202	7	3	445	3	INTS3	1	153719545	Splice_Site	SNP	A	TCGA-H2-A26U-01A-11D-A16O-08		153719545	95531076	1	9155											
CEP68	23177	broad.mit.edu	37	chr2	65301473	65301476	+	Frame_Shift_Del	DEL	ACTG	ACTG	-													tgtataatgttgcagatgttActgaccacgggactgcagcc							TCGA-H2-A26U-01A-11D-A16O-08	TCGA-H2-A26U-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a84193e-84f1-4729-b467-480c8b73e0e7	539571d0-752a-4bc0-ad14-71dbbe052642	g.chr2:65301473_65301476delACTG	ENST00000377990.2	+	4	2145_2148	c.1942_1945delACTG	c.(1942-1947)actgacfs	p.TD648fs	CEP68_ENST00000260569.4_Frame_Shift_Del_p.TD511fs|CEP68_ENST00000537589.1_3'UTR|CEP68_ENST00000546106.1_Frame_Shift_Del_p.TD648fs|CEP68_ENST00000497039.1_3'UTR|RAB1A_ENST00000494188.1_Intron	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	648					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						TGCAGATGTTACTGACCACGGGAC	0.48																																						ENST00000377990.2																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1942-1947)acfs		centrosomal protein 68kDa																																				SO:0001589	frameshift_variant	23177				centrosome organization	centrosome		g.chr2:65301473_65301476delACTG	BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"KIAA0582"	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.1942_1945delACTG	2.37:g.65301473_65301476delACTG	ENSP00000367229:p.Thr648fs					CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000260569.4_Frame_Shift_Del_p.TD511fs|CEP68_ENST00000546106.1_Frame_Shift_Del_p.TD648fs|CEP68_ENST00000537589.1_3'UTR|RAB1A_ENST00000494188.1_Intron	p.TD648fs	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN			4	2145_2148	+			648					B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Frame_Shift_Del	DEL	ENST00000377990.2	37	c.1942_1945delACTG	CCDS1880.2																																																																																				0.48	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147		20	77						20	77	---	---	---	---	-	65301476	ACTG	-	65301473	7	5	450	1	0	1	0	1	0	0	0	0	3258	391	14	0	1952	0	CEP68	2	65301473	Frame_Shift_Del	DEL	ACTG	TCGA-H2-A26U-01A-11D-A16O-08		65301473	177897900	2	9156											
RBM6	10180	broad.mit.edu	37	chr3	50005666	50005666	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaggactgatcaggattttAggggcagagagatgggatct	15	5	2	3			TCGA-H2-A26U-01A-11D-A16O-08	TCGA-H2-A26U-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a84193e-84f1-4729-b467-480c8b73e0e7	539571d0-752a-4bc0-ad14-71dbbe052642	g.chr3:50005666A>G	ENST00000266022.4	+	3	1067	c.808A>G	c.(808-810)Agg>Ggg	p.R270G	RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000443081.1_Missense_Mutation_p.R138G	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	270					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TCAGGATTTTAGGGGCAGAGA	0.453																																						ENST00000443081.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33						c.(412-414)Agg>Ggg		RNA binding motif protein 6							76	80	78					3																	50005666		2203	4300	6503	SO:0001583	missense	10180				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr3:50005666A>G	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"RNA binding motif (RRM) containing", "G patch domain containing"	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.808A>G	3.37:g.50005666A>G	ENSP00000266022:p.Arg270Gly					RBM6_ENST00000266022.4_Missense_Mutation_p.R270G|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000441115.1_Intron	p.R138G			P78332	RBM6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)	3	1331	+			270					O60549|O75524|Q86SS3	Missense_Mutation	SNP	ENST00000266022.4	37	c.412A>G	CCDS2809.1	.	.	.	.	.	.	.	.	.	.	A	14.78	2.638237	0.47153	.	.	ENSG00000004534	ENST00000266022;ENST00000443081	T;T	0.36878	1.28;1.23	6.04	4.86	0.63082	.	0.056955	0.64402	D	0.000008	T	0.42899	0.1223	L	0.29908	0.895	0.80722	D	1	D	0.63880	0.993	P	0.59948	0.866	T	0.17198	-1.0377	9	.	.	.	-13.914	13.694	0.62567	0.8717:0.1283:0.0:0.0	.	270	P78332	RBM6_HUMAN	G	270;138	ENSP00000266022:R270G;ENSP00000396466:R138G	.	R	+	1	2	RBM6	49980670	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.330000	0.59266	1.072000	0.40860	0.459000	0.35465	AGG		0.453	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		3	78	0	0	0	0.000248	0	3	78					G	50005666	A	G	50005666	3	3	450	1	0	0	0	0	1	0	0	0	13144	411	15	3	814	3	RBM6	3	50005666	Missense_Mutation	SNP	A	TCGA-H2-A26U-01A-11D-A16O-08		50005666	148016764	3	9157											
LAMA4	3910	broad.mit.edu	37	chr6	112469364	112469364	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atttctaagtgatacctgcaTccctagcagagttcactgca	7	11	2	2			TCGA-H2-A26U-01A-11D-A16O-08	TCGA-H2-A26U-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a84193e-84f1-4729-b467-480c8b73e0e7	539571d0-752a-4bc0-ad14-71dbbe052642	g.chr6:112469364T>A	ENST00000230538.7	-	18	2745	c.2348A>T	c.(2347-2349)gAt>gTt	p.D783V	LAMA4_ENST00000424408.2_Missense_Mutation_p.D776V|LAMA4_ENST00000522006.1_Missense_Mutation_p.D776V|LAMA4_ENST00000389463.4_Missense_Mutation_p.D776V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	783	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GATACCTGCATCCCTAGCAGA	0.393																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(2347-2349)gAt>gTt		laminin, alpha 4							95	91	92					6																	112469364		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112469364T>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.2348A>T	6.37:g.112469364T>A	ENSP00000230538:p.Asp783Val					LAMA4_ENST00000522006.1_Missense_Mutation_p.D776V|LAMA4_ENST00000424408.2_Missense_Mutation_p.D776V|LAMA4_ENST00000389463.4_Missense_Mutation_p.D776V	p.D783V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	18	2745	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	783			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.2348A>T	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	T	19.24	3.790281	0.70337	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.18	5.18	0.71444	Laminin II (1);	0.242760	0.48767	D	0.000176	T	0.42854	0.1221	L	0.44542	1.39	0.80722	D	1	P;D	0.67145	0.82;0.996	P;P	0.62298	0.543;0.9	T	0.30031	-0.9992	10	0.40728	T	0.16	.	14.3576	0.66748	0.0:0.0:0.0:1.0	.	783;776	Q16363;Q16363-2	LAMA4_HUMAN;.	V	783;776;776;776	ENSP00000230538:D783V;ENSP00000429488:D776V;ENSP00000374114:D776V;ENSP00000416470:D776V	ENSP00000230538:D783V	D	-	2	0	LAMA4	112576057	1.000000	0.71417	0.998000	0.56505	0.908000	0.53690	3.843000	0.55865	2.164000	0.68074	0.533000	0.62120	GAT		0.393	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		17	40	0	0	0	0.004007	0	17	40					A	112469364	T	A	112469364	3	1	450	1	0	0	0	0	1	0	0	0	8608	1435	50	5	3211	5	LAMA4	6	112469364	Missense_Mutation	SNP	T	TCGA-H2-A26U-01A-11D-A16O-08		112469364	58645703	4	9158											
CUX1	1523	broad.mit.edu	37	chr7	101847718	101847718	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcgacatgctgtcccgaccGaagccatggagcaagctgac	12	13	0	1	rs373412162		TCGA-H2-A26U-01A-11D-A16O-08	TCGA-H2-A26U-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a84193e-84f1-4729-b467-480c8b73e0e7	539571d0-752a-4bc0-ad14-71dbbe052642	g.chr7:101847718G>A	ENST00000292535.7	+	19	2993	c.2955G>A	c.(2953-2955)ccG>ccA	p.P985P	CUX1_ENST00000550008.2_Silent_p.P929P|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000546411.2_Silent_p.P883P|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Silent_p.P996P|CUX1_ENST00000549414.2_Silent_p.P963P|CUX1_ENST00000556210.1_Silent_p.P827P	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	985					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TGTCCCGACCGAAGCCATGGA	0.622																																						ENST00000360264.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(2986-2988)ccG>ccA		cut-like homeobox 1		G	,,,,,,	1,4405	2.1+/-5.4	0,1,2202	105	90	95		2988,,,,,,2955	-2.4	0.9	7		95	0,8600		0,0,4300	no	coding-synonymous,intron,intron,intron,intron,intron,coding-synonymous	CUX1	NM_001202543.1,NM_001202544.1,NM_001202545.1,NM_001202546.1,NM_001913.3,NM_181500.2,NM_181552.3	,,,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,,,	996/1517,,,,,,985/1506	101847718	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101847718G>A	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.2955G>A	7.37:g.101847718G>A						CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000556210.1_Silent_p.P827P|CUX1_ENST00000549414.2_Silent_p.P963P|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Silent_p.P883P|CUX1_ENST00000550008.2_Silent_p.P929P|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292535.7_Silent_p.P985P|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000425244.2_Intron	p.P996P	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			19	3008	+			985					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	ENST00000292535.7	37	c.2988G>A	CCDS5721.1																																																																																				0.622	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		7	108	0	0	0	0.001984	0	7	108					A	101847718	G	A	101847718	2	1	450	1	0	0	0	0	0	0	0	1	4064	1045	37	1		1	CUX1	7	101847718	Silent	SNP	G	TCGA-H2-A26U-01A-11D-A16O-08		101847718	57290945	5	9159											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-H2-A26U-01A-11D-A16O-08	TCGA-H2-A26U-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a84193e-84f1-4729-b467-480c8b73e0e7	539571d0-752a-4bc0-ad14-71dbbe052642	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		8	47	0	0	0	0.006214	0	8	47					T	140453136	A	T	140453136	3	4	450	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-H2-A26U-01A-11D-A16O-08	38605418	140453136	18685527	6	9160											
FZD3	7976	broad.mit.edu	37	chr8	28409258	28409258	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagtttttttcatggtcgtAggaaaaaagagtaagttgaa	10	4	1	2			TCGA-H2-A26U-01A-11D-A16O-08	TCGA-H2-A26U-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a84193e-84f1-4729-b467-480c8b73e0e7	539571d0-752a-4bc0-ad14-71dbbe052642	g.chr8:28409258A>G	ENST00000240093.3	+	6	2021	c.1543A>G	c.(1543-1545)Agg>Ggg	p.R515G	FZD3_ENST00000537916.1_Missense_Mutation_p.R515G	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	515					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		TCATGGTCGTAGGAAAAAAGA	0.358																																						ENST00000240093.3																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41						c.(1543-1545)Agg>Ggg		frizzled family receptor 3							100	97	98					8																	28409258		2203	4300	6503	SO:0001583	missense	7976				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding	g.chr8:28409258A>G	AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"GPCR / Class F : Frizzled receptors"	4041	protein-coding gene	gene with protein product		606143	"frizzled (Drosophila) homolog 3", "frizzled homolog 3 (Drosophila)", "frizzled 3, seven transmembrane spanning receptor", "frizzled family receptor 3"			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.1543A>G	8.37:g.28409258A>G	ENSP00000240093:p.Arg515Gly					FZD3_ENST00000537916.1_Missense_Mutation_p.R515G	p.R515G	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)	6	2021	+		Ovarian(32;2.06e-05)	515					A8K615	Missense_Mutation	SNP	ENST00000240093.3	37	c.1543A>G	CCDS6069.1	.	.	.	.	.	.	.	.	.	.	A	14.51	2.557817	0.45590	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	D;D	0.81908	-1.55;-1.55	5.17	4.01	0.46588	.	0.095624	0.64402	D	0.000002	T	0.79311	0.4424	L	0.46947	1.48	0.42793	D	0.993905	B	0.22683	0.073	B	0.31101	0.124	T	0.76152	-0.3064	10	0.66056	D	0.02	.	11.4143	0.49943	0.8344:0.1656:0.0:0.0	.	515	Q9NPG1	FZD3_HUMAN	G	515	ENSP00000437489:R515G;ENSP00000240093:R515G	ENSP00000240093:R515G	R	+	1	2	FZD3	28465177	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.805000	0.55575	0.910000	0.36722	0.477000	0.44152	AGG		0.358	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866		3	43	0	0	0	0.000248	0	3	43					G	28409258	A	G	28409258	3	3	450	1	0	0	0	0	1	0	0	0	6131	411	15	3	1557	3	FZD3	8	28409258	Missense_Mutation	SNP	A	TCGA-H2-A26U-01A-11D-A16O-08		28409258	117954764	7	9161											
OR8I2	120586	broad.mit.edu	37	chr11	55861326	55861326	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattttttttgtgacaccacAgctcttttagcactctcctg	5	12	2	1			TCGA-H2-A26U-01A-11D-A16O-08	TCGA-H2-A26U-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a84193e-84f1-4729-b467-480c8b73e0e7	539571d0-752a-4bc0-ad14-71dbbe052642	g.chr11:55861326A>G	ENST00000302124.2	+	1	574	c.543A>G	c.(541-543)acA>acG	p.T181T		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	181						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(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GTGACACCACAGCTCTTTTAG	0.433																																						ENST00000302124.2																			0				NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53						c.(541-543)acA>acG		olfactory receptor, family 8, subfamily I, member 2							155	145	148					11																	55861326		2201	4296	6497	SO:0001819	synonymous_variant	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861326A>G	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"GPCR / Class A : Olfactory receptors"	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.543A>G	11.37:g.55861326A>G						OR8I2_ENST00000560768.1_Silent_p.T181T	p.T181T			Q8N0Y5	OR8I2_HUMAN			1	574	+	Esophageal squamous(21;0.00693)		181					B2RNN4|Q6IFC0|Q96RC5	Silent	SNP	ENST00000302124.2	37	c.543A>G	CCDS31517.1																																																																																				0.433	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		4	105	0	0	0	0.000602	0	4	105					G	55861326	A	G	55861326	2	3	450	1	0	0	0	0	0	0	0	1	11240	175	7	3		3	OR8I2	11	55861326	Silent	SNP	A	TCGA-H2-A26U-01A-11D-A16O-08		55861326	79145190	8	9162											
MS4A2	2206	broad.mit.edu	37	chr11	59863096	59863096	+	Frame_Shift_Del	DEL	C	C	-													acttacagtgagttggaagaCccaggggaaatgtctcctcc							TCGA-H2-A26U-01A-11D-A16O-08	TCGA-H2-A26U-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a84193e-84f1-4729-b467-480c8b73e0e7	539571d0-752a-4bc0-ad14-71dbbe052642	g.chr11:59863096delC	ENST00000278888.3	+	7	804	c.702delC	c.(700-702)gacfs	p.D234fs		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	234					activation of phospholipase C activity (GO:0007202)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of mast cell degranulation (GO:0043306)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	AGTTGGAAGACCCAGGGGAAA	0.413																																						ENST00000278888.3																			0				endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17						c.(700-702)gafs		membrane-spanning 4-domains, subfamily A, member 2	Omalizumab(DB00043)						121	119	119					11																	59863096		2201	4295	6496	SO:0001589	frameshift_variant	2206				cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity	g.chr11:59863096delC	M89796	CCDS7980.1, CCDS73292.1	11q12-q13	2012-02-28	2012-02-28		ENSG00000149534	ENSG00000149534			7316	protein-coding gene	gene with protein product	"Fc fragment of IgE, high affinity I, receptor for; beta polypeptide"	147138	"IgE responsiveness (atopic)", "membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)"	FCER1B, IGER, APY		1386024	Standard	NM_000139		Approved	MS4A1	uc001nop.3	Q01362	OTTHUMG00000167239	ENST00000278888.3:c.702delC	11.37:g.59863096delC	ENSP00000278888:p.Asp234fs						p.D234fs	NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN			7	804	+		all_epithelial(135;0.245)	234					Q54A81	Frame_Shift_Del	DEL	ENST00000278888.3	37	c.702delC	CCDS7980.1																																																																																				0.413	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393844.1			10	53						10	53	---	---	---	---	-	59863096	C	-	59863096	7	5	450	1	0	1	0	1	0	0	0	0	9860	506	18	0	779	0	MS4A2	11	59863096	Frame_Shift_Del	DEL	C	TCGA-H2-A26U-01A-11D-A16O-08	4001770	59863096	75143420	9	9163											
HIF3A	64344	broad.mit.edu	37	chr19	46825036	46825036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccatgtgtcctgcagacaCccctggcccccggatccttg	9	18	0	1			TCGA-H2-A26U-01A-11D-A16O-08	TCGA-H2-A26U-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a84193e-84f1-4729-b467-480c8b73e0e7	539571d0-752a-4bc0-ad14-71dbbe052642	g.chr19:46825036C>T	ENST00000377670.4	+	10	1179	c.1148C>T	c.(1147-1149)aCc>aTc	p.T383I	HIF3A_ENST00000472815.1_Missense_Mutation_p.T314I|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000420102.2_Missense_Mutation_p.T332I|HIF3A_ENST00000600383.1_Missense_Mutation_p.T314I|HIF3A_ENST00000300862.3_Missense_Mutation_p.T381I|HIF3A_ENST00000244303.6_Missense_Mutation_p.T314I|HIF3A_ENST00000339613.2_Missense_Mutation_p.T327I	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	383					cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CCTGCAGACACCCCTGGCCCC	0.662																																						ENST00000339613.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33						c.(979-981)aCc>aTc		hypoxia inducible factor 3, alpha subunit							55	67	63					19																	46825036		2203	4300	6503	SO:0001583	missense	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46825036C>T	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"Basic helix-loop-helix proteins"	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.1148C>T	19.37:g.46825036C>T	ENSP00000366898:p.Thr383Ile					HIF3A_ENST00000420102.2_Missense_Mutation_p.T332I|HIF3A_ENST00000244303.6_Missense_Mutation_p.T314I|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000600383.1_Missense_Mutation_p.T314I|HIF3A_ENST00000300862.3_Missense_Mutation_p.T381I|HIF3A_ENST00000377670.4_Missense_Mutation_p.T383I|HIF3A_ENST00000472815.1_Missense_Mutation_p.T314I	p.T327I			Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	10	1235	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	383					B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	ENST00000377670.4	37	c.980C>T	CCDS12681.2	.	.	.	.	.	.	.	.	.	.	C	8.665	0.901495	0.17760	.	.	ENSG00000124440	ENST00000244302;ENST00000377670;ENST00000244303;ENST00000339613;ENST00000291300;ENST00000300862;ENST00000420102	T;T;T;T;T	0.65178	0.61;-0.14;0.48;0.61;-0.14	4.43	2.25	0.28309	.	2.786710	0.01156	N	0.006530	T	0.47619	0.1455	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B;B	0.20052	0.023;0.005;0.028;0.002;0.041;0.041;0.017	B;B;B;B;B;B;B	0.18561	0.02;0.004;0.022;0.004;0.01;0.01;0.006	T	0.40496	-0.9560	10	0.56958	D	0.05	.	6.1771	0.20449	0.0:0.708:0.1891:0.1029	.	332;314;381;332;327;383;383	F5H884;B4DNA2;Q9Y2N7-2;B4DSD9;A8MPQ1;Q9Y2N7;B0M185	.;.;.;.;.;HIF3A_HUMAN;.	I	383;383;314;327;327;381;332	ENSP00000366898:T383I;ENSP00000244303:T314I;ENSP00000341877:T327I;ENSP00000300862:T381I;ENSP00000407771:T332I	ENSP00000244302:T383I	T	+	2	0	HIF3A	51516876	0.000000	0.05858	0.058000	0.19502	0.025000	0.11179	-0.350000	0.07721	0.603000	0.29913	0.655000	0.94253	ACC		0.662	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			38	93	0	0	0	0.002222	0	38	93					T	46825036	C	T	46825036	3	4	450	1	0	0	0	0	1	0	0	0	7105	507	18	2	1210	2	HIF3A	19	46825036	Missense_Mutation	SNP	C	TCGA-H2-A26U-01A-11D-A16O-08		46825036	12303947	10	9164											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290	byFrequency	TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		neuroblastoma RAS viral (v-ras) oncogene homolog							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		59	81	0	0	0	0.01441	0	59	81					C	115256529	T	C	115256529	3	2	451	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-H2-A2K9-01A-11D-A17V-08		115256529	133994092	1	9165											
NR4A2	4929	broad.mit.edu	37	chr2	157182823	157182823	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattgcaaaagatgagtttaCcctccactgggttggacctg	10	10	0	2			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr2:157182823C>T	ENST00000339562.4	-	7	1741	c.1379G>A	c.(1378-1380)gGt>gAt	p.G460D	NR4A2_ENST00000429376.1_Splice_Site|NR4A2_ENST00000409108.2_Splice_Site|NR4A2_ENST00000409572.1_Missense_Mutation_p.G460D|NR4A2_ENST00000539077.1_Missense_Mutation_p.G471D|NR4A2_ENST00000426264.1_Missense_Mutation_p.G397D	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	460					adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GATGAGTTTACCCTCCACTGG	0.428																																						ENST00000339562.4																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						c.(1378-1380)gGt>gAt		nuclear receptor subfamily 4, group A, member 2							94	78	84					2																	157182823		2203	4300	6503	SO:0001583	missense	0				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr2:157182823C>T	X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"Nuclear hormone receptors"	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.1379G>A	2.37:g.157182823C>T	ENSP00000344479:p.Gly460Asp					NR4A2_ENST00000429376.1_Splice_Site|NR4A2_ENST00000426264.1_Missense_Mutation_p.G397D|NR4A2_ENST00000409108.2_Splice_Site|NR4A2_ENST00000539077.1_Missense_Mutation_p.G471D|NR4A2_ENST00000409572.1_Missense_Mutation_p.G460D	p.G460D	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN			7	1741	-			460					Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	ENST00000339562.4	37	c.1379G>A	CCDS2201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.95|14.95	2.689573|2.689573	0.48097|0.48097	.|.	.|.	ENSG00000153234|ENSG00000153234	ENST00000409108;ENST00000429376|ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077	.|T;T;T;T	.|0.44881	.|0.91;0.91;0.91;0.91	5.63|5.63	5.63|5.63	0.86233|0.86233	.|Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	.|0.049685	.|0.85682	.|D	.|0.000000	.|T	.|0.20129	.|0.0484	N|N	0.02266|0.02266	-0.62|-0.62	0.80722|0.80722	D|D	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.11329	.|0.006	.|T	.|0.23261	.|-1.0193	.|10	.|0.02654	.|T	.|1	.|.	20.0396|20.0396	0.97574|0.97574	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|460	.|P43354	.|NR4A2_HUMAN	.|D	-1|460;397;460;471	.|ENSP00000344479:G460D;ENSP00000389986:G397D;ENSP00000386747:G460D;ENSP00000444925:G471D	.|ENSP00000344479:G460D	.|G	-|-	.|2	.|0	NR4A2|NR4A2	156891069|156891069	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.050000|6.050000	0.71063|0.71063	2.814000|2.814000	0.96858|0.96858	0.563000|0.563000	0.77884|0.77884	.|GGT		0.428	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2			23	26	0	0	0	0.004656	0	23	26					T	157182823	C	T	157182823	3	4	451	1	0	0	0	0	1	0	0	0	10633	507	18	2	425	2	NR4A2	2	157182823	Missense_Mutation	SNP	C	TCGA-H2-A2K9-01A-11D-A17V-08		157182823	86016550	2	9166											
ARAP3	64411	broad.mit.edu	37	chr5	141041612	141041612	+	Frame_Shift_Del	DEL	G	G	-													cagggatcttaggaataccaGcagcctccctccagcgaggc							TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr5:141041612delG	ENST00000239440.4	-	20	3076	c.3011delC	c.(3010-3012)gctfs	p.A1004fs	ARAP3_ENST00000508305.1_Intron|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000513878.1_Frame_Shift_Del_p.A666fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1004	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.A1004V(1)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						AGGAATACCAGCAGCCTCCCT	0.577																																						ENST00000239440.4																			1	Substitution - Missense(1)	p.A1004V(1)	large_intestine(1)	NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(3010-3012)gtfs		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							81	74	76					5																	141041612		2203	4300	6503	SO:0001589	frameshift_variant	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141041612delG	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.3011delC	5.37:g.141041612delG	ENSP00000239440:p.Ala1004fs					ARAP3_ENST00000508305.1_Intron|ARAP3_ENST00000513878.1_Frame_Shift_Del_p.A666fs|ARAP3_ENST00000512390.1_5'UTR	p.A1004fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			20	3076	-			1004			Rho-GAP.		B4DIT1|D3DQE3	Frame_Shift_Del	DEL	ENST00000239440.4	37	c.3011delC	CCDS4266.1																																																																																				0.577	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		38	30						38	30	---	---	---	---	-	141041612	G	-	141041612	7	5	451	1	0	1	0	1	0	0	0	0	840	971	34	0	1679	0	ARAP3	5	141041612	Frame_Shift_Del	DEL	G	TCGA-H2-A2K9-01A-11D-A17V-08		141041612	39873648	3	9167											
PENK	5179	broad.mit.edu	37	chr8	57353902	57353902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggagtaactttcgccttcttCgtcggagggcagagcctcgg	14	11	1	1	rs376111422		TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr8:57353902C>T	ENST00000314922.3	-	2	809	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	PENK_ENST00000523274.1_5'Flank|PENK_ENST00000451791.2_Missense_Mutation_p.E245K	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	245					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TCGCCTTCTTCGTCGGAGGGC	0.498																																						ENST00000314922.3																			0				central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21						c.(733-735)Gaa>Aaa		proenkephalin		C	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	75	83	80		733,733	5.9	1.0	8		80	0,8600		0,0,4300	no	missense,missense	PENK	NM_001135690.1,NM_006211.3	56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	245/268,245/268	57353902	1,13005	2203	4300	6503	SO:0001583	missense	5179				neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	g.chr8:57353902C>T		CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"Endogenous ligands"	8831	protein-coding gene	gene with protein product	"preproenkephalin"	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.733G>A	8.37:g.57353902C>T	ENSP00000324248:p.Glu245Lys					PENK_ENST00000451791.2_Missense_Mutation_p.E245K	p.E245K	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	Epithelial(17;0.000873)|all cancers(17;0.0069)		2	809	-		all_lung(136;0.229)	245					B2RC23|Q6FHC6|Q6FHE6	Missense_Mutation	SNP	ENST00000314922.3	37	c.733G>A	CCDS6168.1	.	.	.	.	.	.	.	.	.	.	C	32	5.161074	0.94727	2.27E-4	0.0	ENSG00000181195	ENST00000314922;ENST00000451791	T;T	0.21191	2.02;2.02	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.45796	0.1360	M	0.76727	2.345	0.80722	D	1	D	0.76494	0.999	P	0.59115	0.852	T	0.37197	-0.9716	10	0.72032	D	0.01	-28.2524	19.2867	0.94077	0.0:1.0:0.0:0.0	.	245	P01210	PENK_HUMAN	K	245	ENSP00000324248:E245K;ENSP00000400894:E245K	ENSP00000324248:E245K	E	-	1	0	PENK	57516456	1.000000	0.71417	0.969000	0.41365	0.770000	0.43624	6.223000	0.72257	2.793000	0.96121	0.655000	0.94253	GAA		0.498	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378645.1			23	86	0	0	0	0.00278	0	23	86					T	57353902	C	T	57353902	3	4	451	1	0	0	0	0	1	0	0	0	11727	893	31	1	74	1	PENK	8	57353902	Missense_Mutation	SNP	C	TCGA-H2-A2K9-01A-11D-A17V-08		57353902	89010120	4	9168											
ESRP1	54845	broad.mit.edu	37	chr8	95683762	95683762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactacctcagcaatttgtgCcccctacaaatgttagagac	6	12	1	1			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr8:95683762C>T	ENST00000433389.2	+	11	1505	c.1315C>T	c.(1315-1317)Ccc>Tcc	p.P439S	ESRP1_ENST00000423620.2_Missense_Mutation_p.P439S|ESRP1_ENST00000358397.5_Missense_Mutation_p.P439S|ESRP1_ENST00000454170.2_Missense_Mutation_p.P439S	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	439					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GCAATTTGTGCCCCCTACAAA	0.493																																						ENST00000433389.2																		ESRP1/RAF1(4)	0				NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						c.(1315-1317)Ccc>Tcc		epithelial splicing regulatory protein 1							119	116	117					8																	95683762		1915	4133	6048	SO:0001583	missense	54845				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	g.chr8:95683762C>T	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"RNA binding motif (RRM) containing"	25966	protein-coding gene	gene with protein product		612959	"RNA binding motif protein 35A"	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.1315C>T	8.37:g.95683762C>T	ENSP00000405738:p.Pro439Ser					ESRP1_ENST00000358397.5_Missense_Mutation_p.P439S|ESRP1_ENST00000423620.2_Missense_Mutation_p.P439S|ESRP1_ENST00000454170.2_Missense_Mutation_p.P439S	p.P439S	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN			11	1505	+			439					A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	ENST00000433389.2	37	c.1315C>T	CCDS47897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.72|12.72	2.022577|2.022577	0.35701|0.35701	.|.	.|.	ENSG00000104413|ENSG00000104413	ENST00000519505|ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170;ENST00000517610	.|T;T;T;T;T	.|0.28255	.|1.62;1.62;1.62;2.86;1.62	5.11|5.11	2.16|2.16	0.27623|0.27623	.|.	.|0.095060	.|0.85682	.|N	.|0.000000	T|T	0.24699|0.24699	0.0599|0.0599	L|L	0.40543|0.40543	1.245|1.245	0.53005|0.53005	D|D	0.999964|0.999964	.|P;B;B;B;B;B	.|0.47910	.|0.902;0.029;0.082;0.002;0.003;0.005	.|P;B;B;B;B;B	.|0.47402	.|0.546;0.087;0.061;0.011;0.025;0.04	T|T	0.08411|0.08411	-1.0723|-1.0723	5|10	.|0.08381	.|T	.|0.77	-1.6344|-1.6344	8.4027|8.4027	0.32597|0.32597	0.1252:0.7385:0.0:0.1362|0.1252:0.7385:0.0:0.1362	.|.	.|439;439;439;439;439;439	.|D7PBN3;Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1	.|.;.;.;.;.;ESRP1_HUMAN	V|S	304|439;439;439;439;298	.|ENSP00000407349:P439S;ENSP00000405738:P439S;ENSP00000351168:P439S;ENSP00000402766:P439S;ENSP00000429125:P298S	.|ENSP00000351168:P439S	A|P	+|+	2|1	0|0	ESRP1|ESRP1	95752938|95752938	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.799000|0.799000	0.45148|0.45148	3.306000|3.306000	0.51881|0.51881	0.654000|0.654000	0.30846|0.30846	-0.793000|-0.793000	0.03317|0.03317	GCC|CCC		0.493	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697		5	64	0	0	0	0.000602	0	5	64					T	95683762	C	T	95683762	3	4	451	1	0	0	0	0	1	0	0	0	5258	739	26	2	1357	2	ESRP1	8	95683762	Missense_Mutation	SNP	C	TCGA-H2-A2K9-01A-11D-A17V-08	38329860	95683762	50680260	5	9169											
DAPK1	1612	broad.mit.edu	37	chr9	90296352	90296352	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactcttcatccagcagctcCgacccacacagaacctgcag	7	17	2	1			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr9:90296352C>T	ENST00000408954.3	+	20	2370	c.2035C>T	c.(2035-2037)Cga>Tga	p.R679*	DAPK1_ENST00000469640.2_Nonsense_Mutation_p.R679*|DAPK1_ENST00000358077.5_Nonsense_Mutation_p.R679*|DAPK1_ENST00000472284.1_Nonsense_Mutation_p.R679*|DAPK1_ENST00000491893.1_Nonsense_Mutation_p.R679*	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	679					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CCAGCAGCTCCGACCCACACA	0.502									Chronic Lymphocytic Leukemia, Familial Clustering of																													ENST00000469640.2																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(2035-2037)Cga>Tga		death-associated protein kinase 1							106	111	109					9																	90296352		1996	4187	6183	SO:0001587	stop_gained	1612	Chronic Lymphocytic Leukemia, Familial Clustering of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90296352C>T	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.2035C>T	9.37:g.90296352C>T	ENSP00000386135:p.Arg679*					DAPK1_ENST00000472284.1_Nonsense_Mutation_p.R679*|DAPK1_ENST00000408954.3_Nonsense_Mutation_p.R679*|DAPK1_ENST00000491893.1_Nonsense_Mutation_p.R679*|DAPK1_ENST00000358077.5_Nonsense_Mutation_p.R679*	p.R679*			P53355	DAPK1_HUMAN			20	2410	+			679					B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Nonsense_Mutation	SNP	ENST00000408954.3	37	c.2035C>T	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	C	41	8.940517	0.99010	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	.	.	.	5.17	3.34	0.38264	.	0.000000	0.42420	D	0.000720	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	7.1402	0.25552	0.4506:0.4684:0.0:0.081	.	.	.	.	X	679	.	ENSP00000350785:R679X	R	+	1	2	DAPK1	89486172	0.848000	0.29623	0.868000	0.34077	0.941000	0.58515	1.381000	0.34362	0.782000	0.33613	0.561000	0.74099	CGA		0.502	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		63	86	0	0	0	0.01441	0	63	86					T	90296352	C	T	90296352	4	4	451	1	0	0	0	0	0	1	0	0	4235	644	23	1	2109	1	DAPK1	9	90296352	Nonsense_Mutation	SNP	C	TCGA-H2-A2K9-01A-11D-A17V-08		90296352	50917079	6	9170											
TBC1D2	55357	broad.mit.edu	37	chr9	100973003	100973003	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcccactgcagtgcctcctgGacaagctgcctcagcagctc	9	17	1	0			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr9:100973003G>A	ENST00000375064.1	-	8	1646	c.1608C>T	c.(1606-1608)gtC>gtT	p.V536V	TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375066.5_Silent_p.V536V|TBC1D2_ENST00000375063.1_Silent_p.V76V|TBC1D2_ENST00000342112.5_Silent_p.V318V	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	536					positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GTGCCTCCTGGACAAGCTGCC	0.637																																						ENST00000375066.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1606-1608)gtC>gtT		TBC1 domain family, member 2							28	22	24					9																	100973003		2201	4300	6501	SO:0001819	synonymous_variant	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100973003G>A	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"prostate antigen recognized and identified by SEREX"	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.1608C>T	9.37:g.100973003G>A						TBC1D2_ENST00000375064.1_Silent_p.V536V|TBC1D2_ENST00000342112.5_Silent_p.V318V|TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375063.1_Silent_p.V76V	p.V536V	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	8	1699	-		Myeloproliferative disorder(762;0.0255)	536					B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Silent	SNP	ENST00000375064.1	37	c.1608C>T																																																																																					0.637	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		4	3	0	0	0	0.009096	0	4	3					A	100973003	G	A	100973003	2	1	451	1	0	0	0	0	0	0	0	1	15605	1161	41	2		2	TBC1D2	9	100973003	Silent	SNP	G	TCGA-H2-A2K9-01A-11D-A17V-08	10676651	100973003	40240428	7	9171											
BMS1	9790	broad.mit.edu	37	chr10	43318566	43318566	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatcttgctatacctgtagGgaatgtttaattctgccttg	8	7	2	0	rs200948384		TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	54f9a768-3d42-42b9-a0a6-be2e01e497d6	g.chr10:43318566G>A	ENST00000374518.5	+	20	3196	c.3133G>A	c.(3133-3135)Gga>Aga	p.G1045R		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1045					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ATACCTGTAGGGAATGTTTAA	0.388																																						ENST00000374518.4																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.e20-1		BMS1 ribosome biogenesis factor							73	81	78					10																	43318566		2202	4298	6500	SO:0001630	splice_region_variant	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43318566G>A	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"BMS1-like, ribosome assembly protein (yeast)", "BMS1 homolog, ribosome assembly protein (yeast)"	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.3133-1G>A	10.37:g.43318566G>A							p.G1045_splice	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			20	3196	+			1045					Q5QPT5|Q86XJ9	Splice_Site	SNP	ENST00000374518.5	37	c.3132_splice	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473226	0.84640	.	.	ENSG00000165733	ENST00000374518	T	0.16457	2.34	4.54	4.54	0.55810	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.49115	0.1538	M	0.88377	2.95	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.59984	-0.7351	9	.	.	.	.	17.7203	0.88349	0.0:0.0:1.0:0.0	.	1045	Q14692	BMS1_HUMAN	R	1045	ENSP00000363642:G1045R	.	G	+	1	0	BMS1	42638572	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	9.439000	0.97543	2.250000	0.74265	0.454000	0.30748	GGA		0.388	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753	Missense_Mutation	4	86	0	0	0	0.000602	0	4	86					A	43318566	G	A	43318566	5	1	451	1	0	0	0	0	0	0	1	0	1472	1246	43	2	3207	2	BMS1	10	43318566	Splice_Site	SNP	G	TCGA-H2-A2K9-01A-11D-A17V-08		43318566	92216181	8	9172											
CST6	1474	broad.mit.edu	37	chr11	65780827	65780827	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtccttgtggttccctggCagaactcctctcagctccta	9	14	1	1			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr11:65780827C>T	ENST00000312134.2	+	3	610	c.406C>T	c.(406-408)Cag>Tag	p.Q136*		NM_001323.3	NP_001314.1	Q15828	CYTM_HUMAN	cystatin E/M	136					anatomical structure morphogenesis (GO:0009653)|epidermis development (GO:0008544)|negative regulation of endopeptidase activity (GO:0010951)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			large_intestine(1)|lung(1)|ovary(1)	3						GGTTCCCTGGCAGAACTCCTC	0.582																																						ENST00000312134.2																			0				large_intestine(1)|lung(1)|ovary(1)	3						c.(406-408)Cag>Tag		cystatin E/M							198	155	169					11																	65780827		2201	4296	6497	SO:0001587	stop_gained	1474				anatomical structure morphogenesis	extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr11:65780827C>T	U62800	CCDS8126.1	11q13	2005-09-29			ENSG00000175315	ENSG00000175315			2478	protein-coding gene	gene with protein product		601891				9154125, 9099741	Standard	NM_001323		Approved		uc001ogr.3	Q15828	OTTHUMG00000166750	ENST00000312134.2:c.406C>T	11.37:g.65780827C>T	ENSP00000311313:p.Gln136*						p.Q136*	NM_001323.3	NP_001314.1	Q15828	CYTM_HUMAN			3	610	+			136					Q540N7	Nonsense_Mutation	SNP	ENST00000312134.2	37	c.406C>T	CCDS8126.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.922217	0.33908	.	.	ENSG00000175315	ENST00000312134	.	.	.	4.95	-9.91	0.00458	.	1.052600	0.07467	N	0.901664	.	.	.	.	.	.	0.48975	D	0.999733	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-1.7483	12.1629	0.54113	0.6458:0.1037:0.2505:0.0	.	.	.	.	X	136	.	ENSP00000311313:Q136X	Q	+	1	0	CST6	65537403	0.007000	0.16637	0.453000	0.27007	0.115000	0.19883	-2.605000	0.00889	-1.794000	0.01256	-1.036000	0.02392	CAG		0.582	CST6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391348.1	NM_001323		8	85	0	0	0	0.010729	0	8	85					T	65780827	C	T	65780827	4	4	451	1	0	0	0	0	0	1	0	0	3976	711	25	2	416	2	CST6	11	65780827	Nonsense_Mutation	SNP	C	TCGA-H2-A2K9-01A-11D-A17V-08		65780827	69225689	9	9173											
ANO2	57101	broad.mit.edu	37	chr12	5916525	5916525	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agatattgtttgcgatcagaGagttaatacctacggaagaa	10	5	1	3			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr12:5916525G>C	ENST00000356134.5	-	9	964	c.893C>G	c.(892-894)tCt>tGt	p.S298C	ANO2_ENST00000327087.8_Missense_Mutation_p.S297C|ANO2_ENST00000546188.1_Missense_Mutation_p.S298C	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	302					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TGCGATCAGAGAGTTAATACC	0.403																																						ENST00000327087.8																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.(889-891)tCt>tGt		anoctamin 2							73	73	73					12																	5916525		1870	4047	5917	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5916525G>C	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	1183	protein-coding gene	gene with protein product	"transmembrane protein 16B (eight membrane-spanning domains)"	610109	"chromosome 12 open reading frame 3", "transmembrane protein 16B", "anoctamin 2"	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.893C>G	12.37:g.5916525G>C	ENSP00000348453:p.Ser298Cys					ANO2_ENST00000546188.1_Missense_Mutation_p.S298C|ANO2_ENST00000356134.5_Missense_Mutation_p.S298C	p.S297C			Q9NQ90	ANO2_HUMAN			8	961	-			302					C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.890C>G		.	.	.	.	.	.	.	.	.	.	G	16.99	3.274128	0.59649	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.66815	-0.23;-0.23;-0.23	5.48	5.48	0.80851	.	0.051025	0.85682	D	0.000000	D	0.82268	0.5000	M	0.78223	2.4	0.39753	D	0.971913	D	0.76494	0.999	D	0.70016	0.967	D	0.84574	0.0657	10	0.62326	D	0.03	.	18.3418	0.90308	0.0:0.0:1.0:0.0	.	297	Q9NQ90-3	.	C	297;298;298;302	ENSP00000314048:S297C;ENSP00000348453:S298C;ENSP00000440981:S298C	ENSP00000314048:S297C	S	-	2	0	ANO2	5786786	1.000000	0.71417	1.000000	0.80357	0.459000	0.32528	4.928000	0.63447	2.567000	0.86603	0.557000	0.71058	TCT		0.403	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		4	3	0	0	0	0.001168	0	4	3					C	5916525	G	C	5916525	3	2	451	1	0	0	0	0	1	0	0	0	697	942	33	4	2182	4	ANO2	12	5916525	Missense_Mutation	SNP	G	TCGA-H2-A2K9-01A-11D-A17V-08		5916525	127935370	10	9174											
CATSPERB	79820	broad.mit.edu	37	chr14	92126274	92126274	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cttctttatgatatcatcatGaaagttagctattaattgaa	5	5	3	3			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr14:92126274G>C	ENST00000256343.3	-	15	1495	c.1339C>G	c.(1339-1341)Cat>Gat	p.H447D		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	447					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				ATATCATCATGAAAGTTAGCT	0.353																																						ENST00000256343.3																			0				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54						c.(1339-1341)Cat>Gat		catsper channel auxiliary subunit beta							79	80	80					14																	92126274		2203	4299	6502	SO:0001583	missense	79820				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr14:92126274G>C	AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"chromosome 14 open reading frame 161", "cation channel, sperm-associated, beta"	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.1339C>G	14.37:g.92126274G>C	ENSP00000256343:p.His447Asp						p.H447D	NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN			15	1495	-		all_cancers(154;0.0663)|all_epithelial(191;0.236)	447					A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	c.1339C>G	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	G	4.006	-0.001622	0.07819	.	.	ENSG00000133962	ENST00000256343	T	0.40476	1.03	4.76	-0.727	0.11166	.	0.917922	0.09102	N	0.848402	T	0.24547	0.0595	L	0.47716	1.5	0.09310	N	1	B	0.32160	0.358	B	0.25140	0.058	T	0.19451	-1.0305	10	0.09084	T	0.74	-4.1208	2.2113	0.03948	0.1612:0.2877:0.4044:0.1468	.	447	Q9H7T0	CTSRB_HUMAN	D	447	ENSP00000256343:H447D	ENSP00000256343:H447D	H	-	1	0	CATSPERB	91196027	0.000000	0.05858	0.076000	0.20297	0.095000	0.18619	-0.611000	0.05622	-0.045000	0.13468	-0.324000	0.08512	CAT		0.353	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764		3	70	0	0	0	0.004672	0	3	70					C	92126274	G	C	92126274	3	2	451	1	0	0	0	0	1	0	0	0	2691	1290	45	4	2063	4	CATSPERB	14	92126274	Missense_Mutation	SNP	G	TCGA-H2-A2K9-01A-11D-A17V-08		92126274	15223266	11	9175											
DMXL2	23312	broad.mit.edu	37	chr15	51837864	51837864	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaagtggtagtctcacaaatCtgctcacccaaaagacagtc	8	11	3	1			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr15:51837864C>A	ENST00000251076.5	-	8	1133	c.846G>T	c.(844-846)caG>caT	p.Q282H	DMXL2_ENST00000449909.3_Missense_Mutation_p.Q282H|DMXL2_ENST00000543779.2_Missense_Mutation_p.Q282H|DMXL2_ENST00000560421.1_5'Flank	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	282						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCTCACAAATCTGCTCACCCA	0.433																																						ENST00000251076.5																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(844-846)caG>caT		Dmx-like 2							147	146	147					15																	51837864		2195	4293	6488	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51837864C>A	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.846G>T	15.37:g.51837864C>A	ENSP00000251076:p.Gln282His					DMXL2_ENST00000449909.3_Missense_Mutation_p.Q282H|DMXL2_ENST00000543779.2_Missense_Mutation_p.Q282H	p.Q282H	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	8	1133	-			282					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.846G>T	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.331001	0.24167	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.25912	1.92;1.92;1.77	5.96	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.41581	0.1165	L	0.49350	1.555	0.27029	N	0.964278	D;D;P	0.67145	0.983;0.996;0.94	P;D;P	0.75484	0.807;0.986;0.726	T	0.24404	-1.0161	10	0.29301	T	0.29	.	11.3189	0.49410	0.0:0.8612:0.0:0.1388	.	282;282;282	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	H	282	ENSP00000251076:Q282H;ENSP00000441858:Q282H;ENSP00000400855:Q282H	ENSP00000251076:Q282H	Q	-	3	2	DMXL2	49625156	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	3.079000	0.50104	1.529000	0.49120	0.655000	0.94253	CAG		0.433	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		63	48	1	0	1.08241e-25	0.01441	8.48834e-25	63	48					A	51837864	C	A	51837864	3	1	451	1	0	0	0	0	1	0	0	0	4595	912	32	4	8411	4	DMXL2	15	51837864	Missense_Mutation	SNP	C	TCGA-H2-A2K9-01A-11D-A17V-08		51837864	50693528	12	9176											
MYCBPAP	84073	broad.mit.edu	37	chr17	48596401	48596401	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gacctacagacggatccaggAggagcgggagctcattgact	14	10	1	2			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr17:48596401A>T	ENST00000323776.5	+	6	1010	c.848A>T	c.(847-849)gAg>gTg	p.E283V	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.E246V	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)			CGGATCCAGGAGGAGCGGGAG	0.602																																						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.(847-849)gAg>gTg		MYCBP associated protein							72	70	71					17																	48596401		2203	4300	6503	SO:0001583	missense	84073				cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding	g.chr17:48596401A>T	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.848A>T	17.37:g.48596401A>T	ENSP00000323184:p.Glu283Val					MYCBPAP_ENST00000436259.2_Missense_Mutation_p.E246V	p.E283V	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.23e-09)		6	1010	+	Breast(11;1.23e-18)		246						Missense_Mutation	SNP	ENST00000323776.5	37	c.848A>T	CCDS32680.2	.	.	.	.	.	.	.	.	.	.	A	18.69	3.678664	0.68042	.	.	ENSG00000136449	ENST00000323776;ENST00000452039;ENST00000436259	T;T;T	0.51574	0.7;0.7;0.7	5.65	5.65	0.86999	.	0.121721	0.56097	D	0.000022	T	0.70316	0.3210	M	0.81497	2.545	0.50171	D	0.999858	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.74870	-0.3517	10	0.87932	D	0	-39.5536	14.7339	0.69402	1.0:0.0:0.0:0.0	.	246;283	Q8TBZ2;B4DZQ1	MYBPP_HUMAN;.	V	283;298;246	ENSP00000323184:E283V;ENSP00000407145:E298V;ENSP00000397209:E246V	ENSP00000323184:E283V	E	+	2	0	MYCBPAP	45951400	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	5.922000	0.70036	2.276000	0.75962	0.460000	0.39030	GAG		0.602	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1	NM_032133		26	38	0	0	0	0.008361	0	26	38					T	48596401	A	T	48596401	3	4	451	1	0	0	0	0	1	0	0	0	10019	304	11	5	870	5	MYCBPAP	17	48596401	Missense_Mutation	SNP	A	TCGA-H2-A2K9-01A-11D-A17V-08		48596401	32598809	13	9177											
FUZ	80199	broad.mit.edu	37	chr19	50315885	50315885	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggggacctgtcatggaagcTtttccacaccacagtcgtgt	11	11	1	0	rs372004761		TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr19:50315885T>C	ENST00000313777.4	-	2	383	c.220A>G	c.(220-222)Agc>Ggc	p.S74G	FUZ_ENST00000445575.2_Missense_Mutation_p.S74G|FUZ_ENST00000528094.1_Intron|FUZ_ENST00000533418.1_Missense_Mutation_p.S24G|FUZ_ENST00000534008.1_5'UTR|AC006942.4_ENST00000600669.1_RNA|FUZ_ENST00000526575.1_Missense_Mutation_p.S74G	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	74					cilium assembly (GO:0042384)|embryonic body morphogenesis (GO:0010172)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of planar polarity (GO:0001736)|hair follicle development (GO:0001942)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)|negative regulation of neural crest formation (GO:0090301)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|positive regulation of cilium assembly (GO:0045724)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		TCATGGAAGCTTTTCCACACC	0.572																																						ENST00000313777.4																			0				endometrium(1)|lung(3)	4						c.(220-222)Agc>Ggc		fuzzy planar cell polarity protein		T	,GLY/SER	1,4405	2.1+/-5.4	0,1,2202	112	97	102		,220	5.3	1.0	19		102	0,8600		0,0,4300	no	intron,missense	FUZ	NM_001171937.1,NM_025129.4	,56	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	,benign	,74/419	50315885	1,13005	2203	4300	6503	SO:0001583	missense	80199				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton		g.chr19:50315885T>C	BC016793	CCDS12781.1, CCDS54293.1	19q13.33	2013-03-05	2013-03-05			ENSG00000010361			26219	protein-coding gene	gene with protein product		610622	"fuzzy homolog (Drosophila)"			21761479	Standard	NM_001171937		Approved	FLJ22688, Fy	uc002ppq.2	Q9BT04		ENST00000313777.4:c.220A>G	19.37:g.50315885T>C	ENSP00000313309:p.Ser74Gly					FUZ_ENST00000533418.1_Missense_Mutation_p.S24G|FUZ_ENST00000445575.2_Missense_Mutation_p.S74G|FUZ_ENST00000534008.1_5'UTR|FUZ_ENST00000528094.1_Intron|FUZ_ENST00000526575.1_Missense_Mutation_p.S74G	p.S74G	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)	2	383	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	74					B2RD86|B5MDH0|Q6PJY0|Q9H613	Missense_Mutation	SNP	ENST00000313777.4	37	c.220A>G	CCDS12781.1	.	.	.	.	.	.	.	.	.	.	T	12.69	2.014385	0.35511	2.27E-4	0.0	ENSG00000010361	ENST00000525130;ENST00000533418;ENST00000529634;ENST00000525370;ENST00000313777;ENST00000445575;ENST00000529004;ENST00000421740;ENST00000526575	T;T;T;T;T;T	0.64438	-0.1;-0.08;-0.1;-0.08;-0.09;-0.1	5.26	5.26	0.73747	.	0.417706	0.26231	N	0.025569	T	0.46405	0.1391	L	0.29908	0.895	0.19575	N	0.999963	B;B	0.28291	0.206;0.199	B;B	0.28011	0.085;0.076	T	0.32719	-0.9896	10	0.27082	T	0.32	-6.1751	7.9252	0.29870	0.0:0.0923:0.0:0.9077	.	74;74	B4DHF8;Q9BT04	.;FUZZY_HUMAN	G	74;24;74;74;74;74;24;74;74	ENSP00000433492:S74G;ENSP00000431731:S24G;ENSP00000431420:S74G;ENSP00000313309:S74G;ENSP00000408018:S74G;ENSP00000433164:S74G	ENSP00000313309:S74G	S	-	1	0	FUZ	55007697	0.995000	0.38212	1.000000	0.80357	0.976000	0.68499	3.432000	0.52824	2.012000	0.59069	0.374000	0.22700	AGC		0.572	FUZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393986.1	NM_025129		3	62	0	0	0	0.009096	0	3	62					C	50315885	T	C	50315885	3	2	451	1	0	0	0	0	1	0	0	0	6112	1609	56	3	1076	3	FUZ	19	50315885	Missense_Mutation	SNP	T	TCGA-H2-A2K9-01A-11D-A17V-08		50315885	8813098	14	9178											
PKDREJ	10343	broad.mit.edu	37	chr22	46653016	46653016	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acatcgtagaagaatctggaAtacctgagggtcttcaaaat	9	7	3	3			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr22:46653016A>C	ENST00000253255.5	-	1	6203	c.6204T>G	c.(6202-6204)taT>taG	p.Y2068*		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2068					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AGAATCTGGAATACCTGAGGG	0.463																																						ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(6202-6204)taT>taG		polycystin (PKD) family receptor for egg jelly							49	53	52					22																	46653016		2203	4300	6503	SO:0001587	stop_gained	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46653016A>C	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like", "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like", "polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.6204T>G	22.37:g.46653016A>C	ENSP00000253255:p.Tyr2068*						p.Y2068*	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	6203	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	2068					B1AJY3|O95850	Nonsense_Mutation	SNP	ENST00000253255.5	37	c.6204T>G	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	A	46	12.261193	0.99651	.	.	ENSG00000130943	ENST00000253255	.	.	.	5.88	1.44	0.22558	.	0.000000	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.9877	8.1521	0.31148	0.685:0.0:0.315:0.0	.	.	.	.	X	2068	.	ENSP00000253255:Y2068X	Y	-	3	2	PKDREJ	45031680	1.000000	0.71417	0.991000	0.47740	0.983000	0.72400	1.478000	0.35442	0.142000	0.18901	0.455000	0.32223	TAT		0.463	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		12	16	0	0	0	0.013537	0	12	16					C	46653016	A	C	46653016	4	2	451	1	0	0	0	0	0	1	0	0	11970	108	4	5	561	5	PKDREJ	22	46653016	Nonsense_Mutation	SNP	A	TCGA-H2-A2K9-01A-11D-A17V-08		46653016	4651550	15	9179											
HK2	3099	broad.mit.edu	37	chr2	75061718	75061718	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ccgcggcaggatgattgcctCgcatctgcttgcctacttct	10	14	2	1			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr2:75061718C>G	ENST00000290573.2	+	1	611	c.11C>G	c.(10-12)tCg>tGg	p.S4W	HK2_ENST00000409174.1_5'Flank|RP11-259N19.1_ENST00000610008.1_lincRNA	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	4	Hydrophobic.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)	p.S4L(1)|p.S4W(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						ATGATTGCCTCGCATCTGCTT	0.662																																						ENST00000290573.2																			2	Substitution - Missense(2)	p.S4L(1)|p.S4W(1)	urinary_tract(1)|lung(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						c.(10-12)tCg>tGg		hexokinase 2							61	57	58					2																	75061718		2203	4300	6503	SO:0001583	missense	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75061718C>G		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.11C>G	2.37:g.75061718C>G	ENSP00000290573:p.Ser4Trp						p.S4W	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN			1	611	+			4			Hydrophobic.		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	c.11C>G	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436492	0.83885	.	.	ENSG00000159399	ENST00000290573;ENST00000535740	D	0.97665	-4.48	3.97	3.97	0.46021	.	0.263111	0.32106	N	0.006565	D	0.93468	0.7916	N	0.14661	0.345	0.58432	D	0.999998	D	0.59357	0.985	P	0.47864	0.559	D	0.93920	0.7205	10	0.87932	D	0	-4.6526	11.3902	0.49809	0.0:1.0:0.0:0.0	.	4	P52789	HXK2_HUMAN	W	4	ENSP00000290573:S4W	ENSP00000290573:S4W	S	+	2	0	HK2	74915226	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	3.687000	0.54692	2.026000	0.59711	0.643000	0.83706	TCG		0.662	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		3	106	0	0	0	1	0	3	106					G	75061718	C	G	75061718	3	3	452	1	0	0	0	0	1	0	0	0	7191	893	31	4	13	4	HK2	2	75061718	Missense_Mutation	SNP	C	TCGA-H2-A3RH-01A-11D-A21Z-08		75061718	168137655	1	9180											
CNNM4	26504	broad.mit.edu	37	chr2	97464932	97464932	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacctgtacacccgaaataAgccggccgactacttcatcc	6	15	1	0			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr2:97464932A>G	ENST00000377075.2	+	4	1918	c.1820A>G	c.(1819-1821)aAg>aGg	p.K607R	MIR3127_ENST00000583925.1_RNA|CNNM4_ENST00000540067.1_Missense_Mutation_p.K94R|CNNM4_ENST00000496186.1_3'UTR	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	607					biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						ACCCGAAATAAGCCGGCCGAC	0.582																																						ENST00000377075.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						c.(1819-1821)aAg>aGg		cyclin M4							99	89	93					2																	97464932		2203	4300	6503	SO:0001583	missense	26504				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		g.chr2:97464932A>G	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"cyclin M4"	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.1820A>G	2.37:g.97464932A>G	ENSP00000366275:p.Lys607Arg					CNNM4_ENST00000540067.1_Missense_Mutation_p.K94R|CNNM4_ENST00000496186.1_3'UTR	p.K607R	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN			4	1918	+			607					B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	ENST00000377075.2	37	c.1820A>G	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	A	15.67	2.901574	0.52227	.	.	ENSG00000158158	ENST00000377075;ENST00000540067	T	0.42131	0.98	5.02	3.87	0.44632	RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.050211	0.85682	N	0.000000	T	0.36552	0.0971	L	0.60012	1.86	0.51482	D	0.999929	P;B	0.39131	0.661;0.006	B;B	0.36504	0.226;0.011	T	0.10941	-1.0608	10	0.34782	T	0.22	-20.0335	9.8117	0.40826	0.917:0.0:0.083:0.0	.	94;607	B7Z1U0;Q6P4Q7	.;CNNM4_HUMAN	R	607;94	ENSP00000366275:K607R	ENSP00000366275:K607R	K	+	2	0	CNNM4	96828659	0.975000	0.34042	0.915000	0.36163	0.883000	0.51084	2.197000	0.42696	0.877000	0.35895	0.459000	0.35465	AAG		0.582	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		3	105	0	0	0	1	0	3	105					G	97464932	A	G	97464932	3	3	452	1	0	0	0	0	1	0	0	0	3615	72	3	3	1834	3	CNNM4	2	97464932	Missense_Mutation	SNP	A	TCGA-H2-A3RH-01A-11D-A21Z-08	22403214	97464932	145734441	2	9181											
SMARCAL1	50485	broad.mit.edu	37	chr2	217332707	217332707	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaaagtggaagagagaagTttttagtatttgcacaccat	11	4	0	2			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr2:217332707T>C	ENST00000357276.4	+	14	2512	c.2182T>C	c.(2182-2184)Ttt>Ctt	p.F728L	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.F728L	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	728	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		AAGAGAGAAGTTTTTAGTATT	0.393									Schimke Immuno-Osseous Dysplasia																													ENST00000357276.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42						c.(2182-2184)Ttt>Ctt		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1							181	174	176					2																	217332707		2203	4300	6503	SO:0001583	missense	50485	Schimke Immuno-Osseous Dysplasia	Familial Cancer Database	SIOD	chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	g.chr2:217332707T>C	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"HepA-related protein", "ATP-driven annealing helicase"	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.2182T>C	2.37:g.217332707T>C	ENSP00000349823:p.Phe728Leu					SMARCAL1_ENST00000358207.5_Missense_Mutation_p.F728L	p.F728L	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	14	2512	+		Renal(323;0.0458)	728			Helicase C-terminal.		A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	37	c.2182T>C	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	T	14.28	2.488933	0.44249	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000392128	D;D;T	0.91945	-2.94;-2.94;-0.88	4.76	3.59	0.41128	Helicase, C-terminal (1);	0.051708	0.85682	D	0.000000	D	0.84737	0.5538	N	0.25426	0.745	0.49213	D	0.999767	B	0.18166	0.026	B	0.15484	0.013	T	0.80679	-0.1275	10	0.37606	T	0.19	-14.7973	9.6911	0.40129	0.0:0.0941:0.0:0.9059	.	728	Q9NZC9	SMAL1_HUMAN	L	728;728;570	ENSP00000349823:F728L;ENSP00000350940:F728L;ENSP00000375974:F570L	ENSP00000349823:F728L	F	+	1	0	SMARCAL1	217040952	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.614000	0.67695	2.001000	0.58596	0.533000	0.62120	TTT		0.393	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			4	106	0	0	0	1	0	4	106					C	217332707	T	C	217332707	3	2	452	1	0	0	0	0	1	0	0	0	14773	1725	60	3	2228	3	SMARCAL1	2	217332707	Missense_Mutation	SNP	T	TCGA-H2-A3RH-01A-11D-A21Z-08	119867775	217332707	25866666	3	9182											
CNTN4	152330	broad.mit.edu	37	chr3	2787328	2787328	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggaacgtaccagtgcacagCgacaaactcgtttggaacaa	10	10	0	0	rs373163297		TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr3:2787328C>A	ENST00000397461.1	+	5	689	c.305C>A	c.(304-306)gCg>gAg	p.A102E	CNTN4_ENST00000418658.1_Missense_Mutation_p.A102E|CNTN4_ENST00000427331.1_Missense_Mutation_p.A102E	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	102	Ig-like C2-type 1.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CAGTGCACAGCGACAAACTCG	0.418																																						ENST00000397461.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(304-306)gCg>gAg		contactin 4							157	147	150					3																	2787328		1936	4141	6077	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2787328C>A	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.305C>A	3.37:g.2787328C>A	ENSP00000380602:p.Ala102Glu					CNTN4_ENST00000427331.1_Missense_Mutation_p.A102E|CNTN4_ENST00000418658.1_Missense_Mutation_p.A102E	p.A102E	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	5	689	+		Ovarian(110;0.156)	102			Ig-like C2-type 1.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.305C>A	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	C	34	5.344401	0.95807	.	.	ENSG00000144619	ENST00000422330;ENST00000418658;ENST00000397461;ENST00000434053;ENST00000427331	T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05	5.81	5.81	0.92471	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93491	0.7923	H	0.98466	4.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95433	0.8518	10	0.87932	D	0	.	20.0784	0.97758	0.0:1.0:0.0:0.0	.	102;102	B3KTK4;Q8IWV2	.;CNTN4_HUMAN	E	102;102;102;120;102	ENSP00000408594:A102E;ENSP00000396010:A102E;ENSP00000380602:A102E;ENSP00000404085:A120E;ENSP00000413642:A102E	ENSP00000380602:A102E	A	+	2	0	CNTN4	2762328	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.311000	0.78958	2.736000	0.93811	0.655000	0.94253	GCG		0.418	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			3	128	1	0	0.115264	1	0.115264	3	128					A	2787328	C	A	2787328	3	1	452	1	0	0	0	0	1	0	0	0	3643	768	27	4	315	4	CNTN4	3	2787328	Missense_Mutation	SNP	C	TCGA-H2-A3RH-01A-11D-A21Z-08		2787328	195235102	4	9183											
RAF1	5894	broad.mit.edu	37	chr3	12626642	12626642	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatctcggttgttgatgtgAgaataaggaagctcccccgt	12	8	1	3			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr3:12626642A>G	ENST00000251849.4	-	15	2086	c.1647T>C	c.(1645-1647)tcT>tcC	p.S549S	RAF1_ENST00000542177.1_Silent_p.S468S|RAF1_ENST00000442415.2_Silent_p.S569S|RAF1_ENST00000534997.1_Silent_p.S334S	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	549	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|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 extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	TGTTGATGTGAGAATAAGGAA	0.522			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																													ENST00000251849.4				Dom	yes		3	3p25	5894	T	v-raf-1 murine leukemia viral oncogene homolog 1			M	SRGAP3		pilocytic astrocytoma	ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32						c.(1645-1647)tcT>tcC		v-raf-1 murine leukemia viral oncogene homolog 1	Sorafenib(DB00398)						90	78	82					3																	12626642		2203	4300	6503	SO:0001819	synonymous_variant	5894	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr3:12626642A>G	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"C-Raf proto-oncogene, serine/threonine kinase"	164760	"v-raf-1 murine leukemia viral oncogene homolog 1"			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.1647T>C	3.37:g.12626642A>G						RAF1_ENST00000542177.1_Silent_p.S468S|RAF1_ENST00000534997.1_Silent_p.S334S|RAF1_ENST00000442415.2_Silent_p.S569S	p.S549S	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN			15	2086	-			549			Protein kinase.		B0LPH8|B2R5N3|Q15278|Q9UC20	Silent	SNP	ENST00000251849.4	37	c.1647T>C	CCDS2612.1																																																																																				0.522	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252015.2	NM_002880		3	87	0	0	0	1	0	3	87					G	12626642	A	G	12626642	2	3	452	1	0	0	0	0	0	0	0	1	13002	291	11	3		3	RAF1	3	12626642	Silent	SNP	A	TCGA-H2-A3RH-01A-11D-A21Z-08	9839314	12626642	185395788	5	9184											
NEK11	79858	broad.mit.edu	37	chr3	130881254	130881254	+	Frame_Shift_Del	DEL	A	A	-													aatctttgttatttataggcAaaaaaggatccacctgcaga							TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr3:130881254delA	ENST00000510769.1	+	7	903	c.650delA	c.(649-651)caafs	p.Q217fs	NEK11_ENST00000356918.4_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000429253.2_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000508196.1_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000383366.4_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000507910.1_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000412440.2_Frame_Shift_Del_p.Q174fs|NEK11_ENST00000510688.1_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000511262.1_Frame_Shift_Del_p.Q322fs					NIMA-related kinase 11											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						ATTTATAGGCAAAAAAGGATC	0.423																																						ENST00000383366.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						c.(964-966)cafs		NIMA-related kinase 11							143	167	158					3																	130881254		2203	4300	6503	SO:0001589	frameshift_variant	79858				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:130881254delA	AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"NIMA (never in mitosis gene a)- related kinase 11"				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.650delA	3.37:g.130881254delA	ENSP00000421549:p.Gln217fs					NEK11_ENST00000511262.1_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000507910.1_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000429253.2_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000508196.1_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000510769.1_Frame_Shift_Del_p.Q217fs|NEK11_ENST00000412440.2_Frame_Shift_Del_p.Q174fs|NEK11_ENST00000356918.4_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000510688.1_Frame_Shift_Del_p.Q322fs	p.Q322fs	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN			11	1258	+			322						Frame_Shift_Del	DEL	ENST00000510769.1	37	c.965delA																																																																																					0.423	NEK11-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356757.1	NM_024800		8	488						8	488	---	---	---	---	-	130881254	A	-	130881254	7	5	452	1	0	1	0	1	0	0	0	0	10323	130	5	0	999	0	NEK11	3	130881254	Frame_Shift_Del	DEL	A	TCGA-H2-A3RH-01A-11D-A21Z-08	118254612	130881254	67141176	6	9185											
BMP2K	55589	broad.mit.edu	37	chr4	79792085	79792085	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagcatcgtcatcctcaccaGcagcagcagcagcagcagca	9	16	2	0	rs376418550	byFrequency	TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr4:79792085G>C	ENST00000335016.5	+	11	1546	c.1380G>C	c.(1378-1380)caG>caC	p.Q460H	BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	460	Gln/His-rich.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)	p.Q460H(3)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ATCCTCACcagcagcagcagc	0.577																																						ENST00000335016.5																			3	Substitution - Missense(3)	p.Q460H(3)	endometrium(2)|prostate(1)	NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1378-1380)caG>caC		BMP2 inducible kinase							40	45	44					4																	79792085		2203	4300	6503	SO:0001583	missense	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79792085G>C	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1380G>C	4.37:g.79792085G>C	ENSP00000334836:p.Gln460His					BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H	p.Q460H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			11	1546	+			460			Gln/His-rich.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	c.1380G>C	CCDS47083.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.089|8.089	0.774118|0.774118	0.16051|0.16051	.|.	.|.	ENSG00000138756|ENSG00000138756	ENST00000502613|ENST00000502871;ENST00000335016;ENST00000264889	.|T;T	.|0.74002	.|0.79;-0.8	5.12|5.12	2.26|2.26	0.28386|0.28386	.|.	.|1.238260	.|0.06146	.|N	.|0.673324	T|T	0.57504|0.57504	0.2058|0.2058	N|N	0.15975|0.15975	0.35|0.35	0.30181|0.30181	N|N	0.800383|0.800383	.|B;B	.|0.06786	.|0.001;0.0	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.51803|0.51803	-0.8659|-0.8659	5|10	.|0.42905	.|T	.|0.14	0.0809|0.0809	5.9141|5.9141	0.19045|0.19045	0.0722:0.2493:0.5501:0.1284|0.0722:0.2493:0.5501:0.1284	.|.	.|460;460	.|Q9NSY1;Q4W5H2	.|BMP2K_HUMAN;.	P|H	153|460;460;474	.|ENSP00000421768:Q460H;ENSP00000334836:Q460H	.|ENSP00000264889:Q474H	A|Q	+|+	1|3	0|2	BMP2K|BMP2K	80011109|80011109	0.996000|0.996000	0.38824|0.38824	0.995000|0.995000	0.50966|0.50966	0.181000|0.181000	0.23173|0.23173	0.092000|0.092000	0.15066|0.15066	0.524000|0.524000	0.28502|0.28502	0.460000|0.460000	0.39030|0.39030	GCA|CAG		0.577	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		4	67	0	0	0	1	0	4	67					C	79792085	G	C	79792085	3	2	452	1	0	0	0	0	1	0	0	0	1460	962	34	4	1422	4	BMP2K	4	79792085	Missense_Mutation	SNP	G	TCGA-H2-A3RH-01A-11D-A21Z-08		79792085	111362191	7	9186											
PLK4	10733	broad.mit.edu	37	chr4	128806990	128806990	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacatcaagattgctgatttTgggctggcaactcaactgaa	9	8	2	3			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr4:128806990T>G	ENST00000270861.5	+	5	739	c.465T>G	c.(463-465)ttT>ttG	p.F155L	PLK4_ENST00000514379.1_Missense_Mutation_p.F114L|PLK4_ENST00000513090.1_Missense_Mutation_p.F123L|PLK4_ENST00000515069.1_Missense_Mutation_p.F155L|PLK4_ENST00000507249.1_Missense_Mutation_p.F155L	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	155	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						TTGCTGATTTTGGGCTGGCAA	0.418																																					Colon(135;508 1718 19061 31832 42879)	ENST00000270861.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(463-465)ttT>ttG		polo-like kinase 4							171	160	164					4																	128806990		2203	4300	6503	SO:0001583	missense	0				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:128806990T>G	Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"serine/threonine kinase 18", "polo-like kinase 4 (Drosophila)"	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.465T>G	4.37:g.128806990T>G	ENSP00000270861:p.Phe155Leu					PLK4_ENST00000515069.1_Missense_Mutation_p.F155L|PLK4_ENST00000507249.1_Missense_Mutation_p.F155L|PLK4_ENST00000513090.1_Missense_Mutation_p.F123L|PLK4_ENST00000514379.1_Missense_Mutation_p.F114L	p.F155L	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN			5	739	+			155			Protein kinase.		B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Missense_Mutation	SNP	ENST00000270861.5	37	c.465T>G	CCDS3735.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.484181	0.84854	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249;ENST00000514379	T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04	5.92	2.24	0.28232	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	0.85682	D	0.000000	T	0.74230	0.3689	M	0.70787	2.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73936	-0.3825	10	0.87932	D	0	-11.5607	9.2514	0.37557	0.0:0.2036:0.0:0.7964	.	123;155	O00444-2;O00444	.;PLK4_HUMAN	L	155;155;123;155;114	ENSP00000270861:F155L;ENSP00000421774:F155L;ENSP00000427554:F123L;ENSP00000423412:F155L;ENSP00000423582:F114L	ENSP00000270861:F155L	F	+	3	2	PLK4	129026440	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.006000	0.57083	0.491000	0.27793	0.533000	0.62120	TTT		0.418	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3			3	170	0	0	0	1	0	3	170					G	128806990	T	G	128806990	3	3	452	1	0	0	0	0	1	0	0	0	12098	1809	63	5	483	5	PLK4	4	128806990	Missense_Mutation	SNP	T	TCGA-H2-A3RH-01A-11D-A21Z-08	49014905	128806990	62347286	8	9187											
GRM4	2914	broad.mit.edu	37	chr6	34003992	34003992	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcatagcacaggaagatgCctgccagcagcacgtagctc	12	12	0	1			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr6:34003992C>T	ENST00000538487.2	-	9	2338	c.1895G>A	c.(1894-1896)gGc>gAc	p.G632D	GRM4_ENST00000374181.4_Missense_Mutation_p.G632D|GRM4_ENST00000374177.3_Missense_Mutation_p.G516D|GRM4_ENST00000455714.2_Missense_Mutation_p.G492D|GRM4_ENST00000544773.2_Missense_Mutation_p.G463D|GRM4_ENST00000535756.1_Missense_Mutation_p.G499D|GRM4_ENST00000609222.1_Missense_Mutation_p.G499D|GRM4_ENST00000545715.1_5'UTR	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	632					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CAGGAAGATGCCTGCCAGCAG	0.597																																						ENST00000374181.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1894-1896)gGc>gAc		glutamate receptor, metabotropic 4	L-Glutamic Acid(DB00142)						96	82	87					6																	34003992		2203	4300	6503	SO:0001583	missense	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34003992C>T	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.1895G>A	6.37:g.34003992C>T	ENSP00000440556:p.Gly632Asp					GRM4_ENST00000455714.2_Missense_Mutation_p.G492D|GRM4_ENST00000374177.3_Missense_Mutation_p.G516D|GRM4_ENST00000544773.1_Missense_Mutation_p.G463D|GRM4_ENST00000535756.1_Missense_Mutation_p.G499D|GRM4_ENST00000538487.1_Missense_Mutation_p.G632D|GRM4_ENST00000545715.1_Missense_Mutation_p.G324D	p.G632D	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN			8	2064	-			632					B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	c.1895G>A	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.531017	0.85706	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.66;-2.66;-2.66;-2.66	4.89	4.89	0.63831	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.96122	0.8736	M	0.91510	3.215	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	0.995;0.995;1.0;1.0;0.998	D	0.96791	0.9582	10	0.87932	D	0	.	17.8595	0.88777	0.0:1.0:0.0:0.0	.	585;463;492;632;499	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	D	632;516;324;499;463;632;492	ENSP00000363296:G632D;ENSP00000363292:G516D;ENSP00000445533:G324D;ENSP00000437925:G499D;ENSP00000437730:G463D;ENSP00000440556:G632D;ENSP00000398456:G492D	ENSP00000363292:G516D	G	-	2	0	GRM4	34111970	1.000000	0.71417	0.998000	0.56505	0.914000	0.54420	7.580000	0.82523	2.539000	0.85634	0.462000	0.41574	GGC		0.597	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			3	44	0	0	0	1	0	3	44					T	34003992	C	T	34003992	3	4	452	1	0	0	0	0	1	0	0	0	6799	739	26	2	855	2	GRM4	6	34003992	Missense_Mutation	SNP	C	TCGA-H2-A3RH-01A-11D-A21Z-08		34003992	137111075	9	9188											
PHF3	23469	broad.mit.edu	37	chr6	64394725	64394725	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taggtttgcctagttgtgtaGatgaagtgactgaatgtaat	12	3	0	4			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr6:64394725G>A	ENST00000262043.3	+	4	1442	c.1102G>A	c.(1102-1104)Gat>Aat	p.D368N	PHF3_ENST00000509330.1_Missense_Mutation_p.D368N|PHF3_ENST00000393387.1_Missense_Mutation_p.D368N			Q92576	PHF3_HUMAN	PHD finger protein 3	368					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TAGTTGTGTAGATGAAGTGAC	0.373																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(1102-1104)Gat>Aat		PHD finger protein 3							72	73	73					6																	64394725		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64394725G>A	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"Zinc fingers, PHD-type"	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.1102G>A	6.37:g.64394725G>A	ENSP00000262043:p.Asp368Asn					PHF3_ENST00000393387.1_Missense_Mutation_p.D368N|PHF3_ENST00000509330.1_Missense_Mutation_p.D368N	p.D368N			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		4	1442	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		368					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.1102G>A	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	6.099	0.386482	0.11524	.	.	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387	T;T;T;T;T;T	0.48201	2.21;1.81;2.17;1.82;0.82;2.17	5.65	3.83	0.44106	.	0.472444	0.15725	N	0.247713	T	0.21509	0.0518	L	0.47716	1.5	0.22066	N	0.999387	B;B	0.12013	0.001;0.005	B;B	0.11329	0.001;0.006	T	0.23261	-1.0193	10	0.52906	T	0.07	-3.3833	9.5452	0.39277	0.2296:0.0:0.7704:0.0	.	368;368	Q92576;D6R9X2	PHF3_HUMAN;.	N	182;280;368;321;368;368	ENSP00000424694:D182N;ENSP00000425227:D280N;ENSP00000262043:D368N;ENSP00000424078:D321N;ENSP00000422841:D368N;ENSP00000377048:D368N	ENSP00000262043:D368N	D	+	1	0	PHF3	64452684	0.998000	0.40836	0.748000	0.31131	0.563000	0.35712	1.152000	0.31663	0.698000	0.31739	0.591000	0.81541	GAT		0.373	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			32	67	0	0	0	1	0	32	67					A	64394725	G	A	64394725	3	1	452	1	0	0	0	0	1	0	0	0	11836	942	33	2	1112	2	PHF3	6	64394725	Missense_Mutation	SNP	G	TCGA-H2-A3RH-01A-11D-A21Z-08	30390733	64394725	106720342	10	9189											
EEF1A1	1915	broad.mit.edu	37	chr6	74228155	74228158	+	Frame_Shift_Del	DEL	GACA	GACA	-													ttgccacgacgaacatccttGacagacacattcttgacatt							TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr6:74228155_74228158delGACA	ENST00000316292.9	-	5	1939_1942	c.948_951delTGTC	c.(946-951)tctgtcfs	p.SV316fs	EEF1A1_ENST00000309268.6_Frame_Shift_Del_p.SV316fs|EEF1A1_ENST00000331523.2_Frame_Shift_Del_p.SV316fs|EEF1A1_ENST00000491404.1_Intron	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	316					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GAACATCCTTGACAGACACATTCT	0.446											OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000316292.9																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						c.(946-951)tcfs		eukaryotic translation elongation factor 1 alpha 1																																				SO:0001589	frameshift_variant	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74228155_74228158delGACA	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"leukocyte receptor cluster (LRC) member 7"	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.948_951delTGTC	6.37:g.74228159_74228162delGACA	ENSP00000339063:p.Ser316fs		OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1151	EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Frame_Shift_Del_p.SV316fs|EEF1A1_ENST00000309268.6_Frame_Shift_Del_p.SV316fs	p.SV316fs	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN			5	1939_1942	-			316					P04719|P04720|Q6IQ15	Frame_Shift_Del	DEL	ENST00000316292.9	37	c.948_951delTGTC	CCDS4980.1																																																																																				0.446	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		35	43						35	43	---	---	---	---	-	74228158	GACA	-	74228155	7	5	452	1	0	1	0	1	0	0	0	0	4923	1277	45	0	449	0	EEF1A1	6	74228155	Frame_Shift_Del	DEL	GACA	TCGA-H2-A3RH-01A-11D-A21Z-08	9833430	74228155	96886912	11	9190											
IQCE	23288	broad.mit.edu	37	chr7	2613074	2613074	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catgtccctgggactcctgtCtacagagaaaaagaagatat	9	9	1	3	rs372351268		TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr7:2613074C>A	ENST00000402050.2	+	6	601	c.417C>A	c.(415-417)gtC>gtA	p.V139V	IQCE_ENST00000438376.2_Silent_p.V123V|IQCE_ENST00000325979.7_Silent_p.V74V|IQCE_ENST00000404984.1_Silent_p.V88V	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	139						mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		GGACTCCTGTCTACAGAGAAA	0.348																																						ENST00000402050.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(415-417)gtC>gtA		IQ motif containing E							153	140	144					7																	2613074		1849	4085	5934	SO:0001819	synonymous_variant	23288							g.chr7:2613074C>A	AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.417C>A	7.37:g.2613074C>A						IQCE_ENST00000325979.7_Silent_p.V74V|IQCE_ENST00000404984.1_Silent_p.V88V|IQCE_ENST00000438376.2_Silent_p.V123V	p.V139V	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)	6	601	+		Ovarian(82;0.0112)	139					Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Silent	SNP	ENST00000402050.2	37	c.417C>A	CCDS43542.1																																																																																				0.348	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325063.2	NM_152558		3	53	1	0	0.00024832	1	0.000269605	3	53					A	2613074	C	A	2613074	2	1	452	1	0	0	0	0	0	0	0	1	7806	900	32	4		4	IQCE	7	2613074	Silent	SNP	C	TCGA-H2-A3RH-01A-11D-A21Z-08		2613074	156525589	12	9191											
FAM71F1	84691	broad.mit.edu	37	chr7	128359074	128359074	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tccatcaccaccaaagacccTaggattcttgtcacgcactg	6	15	3	1			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr7:128359074T>A	ENST00000315184.5	+	3	677	c.624T>A	c.(622-624)ccT>ccA	p.P208P	FAM71F1_ENST00000485070.1_Silent_p.P109P|FAM71F1_ENST00000469348.1_3'UTR	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	208										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						CCAAAGACCCTAGGATTCTTG	0.532																																						ENST00000315184.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(622-624)ccT>ccA		family with sequence similarity 71, member F1							131	119	123					7																	128359074		2203	4300	6503	SO:0001819	synonymous_variant	84691							g.chr7:128359074T>A	AF367470	CCDS5804.1, CCDS64763.1	7q32.1	2007-11-20	2007-11-20	2007-11-20	ENSG00000135248	ENSG00000135248			30704	protein-coding gene	gene with protein product			"family with sequence similarity 137, member A"	FAM137A		12477932	Standard	XM_005250645		Approved	NYD-SP18	uc003vno.1	Q96KD3	OTTHUMG00000158276	ENST00000315184.5:c.624T>A	7.37:g.128359074T>A						FAM71F1_ENST00000469348.1_3'UTR|FAM71F1_ENST00000485070.1_Silent_p.P109P	p.P208P	NM_032599.2	NP_115988.1	Q96KD3	F71F1_HUMAN			3	677	+			208					Q8IY75|Q8NA48	Silent	SNP	ENST00000315184.5	37	c.624T>A	CCDS5804.1																																																																																				0.532	FAM71F1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350544.2	NM_032599		69	85	0	0	0	1	0	69	85					A	128359074	T	A	128359074	2	1	452	1	0	0	0	0	0	0	0	1	5612	1509	53	5		5	FAM71F1	7	128359074	Silent	SNP	T	TCGA-H2-A3RH-01A-11D-A21Z-08	125746000	128359074	30779589	13	9192											
ANK1	286	broad.mit.edu	37	chr8	41530362	41530362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attccagtactggtctgcacGtagcggagaggaaagtgcac	13	9	1	1	rs146416859	byFrequency	TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr8:41530362G>A	ENST00000347528.4	-	38	4689	c.4606C>T	c.(4606-4608)Cgt>Tgt	p.R1536C	ANK1_ENST00000265709.8_Missense_Mutation_p.R1577C|ANK1_ENST00000396942.1_Missense_Mutation_p.R1536C|ANK1_ENST00000352337.4_Missense_Mutation_p.R1536C|ANK1_ENST00000289734.7_Missense_Mutation_p.R1536C|ANK1_ENST00000396945.1_Missense_Mutation_p.R1536C|ANK1_ENST00000379758.2_Missense_Mutation_p.R1536C	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1536	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)			TGGTCTGCACGTAGCGGAGAG	0.607																																						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.(4606-4608)Cgt>Tgt		ankyrin 1, erythrocytic		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,	0,4406		0,0,2203	37	37	37		4606,4729,4606,4606,	4.3	1.0	8	dbSNP_134	37	11,8589	8.4+/-32.0	0,11,4289	yes	missense,missense,missense,missense,intron	ANK1	NM_000037.3,NM_001142446.1,NM_020475.2,NM_020476.2,NM_020477.2	180,180,180,180,	0,11,6492	AA,AG,GG		0.1279,0.0,0.0846	benign,benign,benign,benign,	1536/1881,1577/1898,1536/1857,1536/1882,	41530362	11,12995	2203	4300	6503	SO:0001583	missense	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.chr8:41530362G>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.4606C>T	8.37:g.41530362G>A	ENSP00000339620:p.Arg1536Cys					ANK1_ENST00000347528.4_Missense_Mutation_p.R1536C|ANK1_ENST00000265709.8_Missense_Mutation_p.R1577C|ANK1_ENST00000396945.1_Missense_Mutation_p.R1536C|ANK1_ENST00000379758.2_Missense_Mutation_p.R1536C|ANK1_ENST00000352337.4_Missense_Mutation_p.R1536C|ANK1_ENST00000289734.7_Missense_Mutation_p.R1536C	p.R1536C			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)		38	4689	-	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)	1536			55 kDa regulatory domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.4606C>T	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138218	0.37728	0.0	0.001279	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709	T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.19;-0.18;-0.19;-0.17;-0.21	5.24	4.35	0.52113	.	0.200040	0.43416	N	0.000572	T	0.49098	0.1537	N	0.16478	0.41	0.47547	D	0.999455	B;B;B;B	0.15930	0.011;0.015;0.006;0.011	B;B;B;B	0.15870	0.006;0.014;0.005;0.006	T	0.43734	-0.9373	10	0.42905	T	0.14	.	10.776	0.46350	0.0896:0.0:0.9104:0.0	.	1577;1536;1536;1536	P16157-21;P16157;P16157-5;P16157-3	.;ANK1_HUMAN;.;.	C	1536;1536;1536;1536;1536;1536;1577	ENSP00000339620:R1536C;ENSP00000289734:R1536C;ENSP00000369082:R1536C;ENSP00000380149:R1536C;ENSP00000380147:R1536C;ENSP00000309131:R1536C;ENSP00000265709:R1577C	ENSP00000265709:R1577C	R	-	1	0	ANK1	41649519	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	1.821000	0.39041	1.336000	0.45506	0.552000	0.68991	CGT		0.607	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		11	19	0	0	0	1	0	11	19					A	41530362	G	A	41530362	3	1	452	1	0	0	0	0	1	0	0	0	620	1145	40	1	1385	1	ANK1	8	41530362	Missense_Mutation	SNP	G	TCGA-H2-A3RH-01A-11D-A21Z-08		41530362	104833660	14	9193											
PSIP1	11168	broad.mit.edu	37	chr9	15474206	15474206	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgtttttcctcttgccccTttttcttacttttgtcctct	4	12	3	0			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr9:15474206T>C	ENST00000380733.4	-	9	1002	c.659A>G	c.(658-660)aAg>aGg	p.K220R	PSIP1_ENST00000380716.4_Missense_Mutation_p.K220R|PSIP1_ENST00000380738.4_Missense_Mutation_p.K220R|PSIP1_ENST00000397519.2_Missense_Mutation_p.K220R|PSIP1_ENST00000380715.1_Missense_Mutation_p.K220R			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	220					establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		CTCTTGCCCCTTTTTCTTACT	0.358																																						ENST00000380733.4																			0				breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9						c.(658-660)aAg>aGg		PC4 and SFRS1 interacting protein 1							201	203	202					9																	15474206		2202	4299	6501	SO:0001583	missense	11168				initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity	g.chr9:15474206T>C	AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"PC4 and SFRS1 interacting protein 2"	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.659A>G	9.37:g.15474206T>C	ENSP00000370109:p.Lys220Arg					PSIP1_ENST00000380716.4_Missense_Mutation_p.K220R|PSIP1_ENST00000380715.1_Missense_Mutation_p.K220R|PSIP1_ENST00000380738.4_Missense_Mutation_p.K220R|PSIP1_ENST00000397519.2_Missense_Mutation_p.K220R	p.K220R			O75475	PSIP1_HUMAN		GBM - Glioblastoma multiforme(50;2.38e-06)	9	1002	-			220					D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Missense_Mutation	SNP	ENST00000380733.4	37	c.659A>G	CCDS6479.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.981245	0.74474	.	.	ENSG00000164985	ENST00000380733;ENST00000380738;ENST00000380715;ENST00000380716;ENST00000397519	T;T;T;T;T	0.49432	0.87;0.87;0.78;0.78;0.78	5.53	5.53	0.82687	.	0.257134	0.44902	D	0.000416	T	0.65821	0.2728	M	0.62723	1.935	0.41190	D	0.986297	D;D;D	0.67145	0.996;0.993;0.993	D;D;D	0.73708	0.981;0.956;0.971	T	0.67910	-0.5548	10	0.54805	T	0.06	.	15.6152	0.76760	0.0:0.0:0.0:1.0	.	220;220;220	O75475-2;Q05CM9;O75475	.;.;PSIP1_HUMAN	R	220	ENSP00000370109:K220R;ENSP00000370114:K220R;ENSP00000370091:K220R;ENSP00000370092:K220R;ENSP00000380653:K220R	ENSP00000370091:K220R	K	-	2	0	PSIP1	15464206	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.928000	0.63447	2.231000	0.72958	0.460000	0.39030	AAG		0.358	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055445.1	NM_033222		4	302	0	0	0	1	0	4	302					C	15474206	T	C	15474206	3	2	452	1	0	0	0	0	1	0	0	0	12663	1609	56	3	994	3	PSIP1	9	15474206	Missense_Mutation	SNP	T	TCGA-H2-A3RH-01A-11D-A21Z-08		15474206	125739225	15	9194											
AKR1C3	8644	broad.mit.edu	37	chr10	5141540	5141540	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccatggagaagtgtaaggatGcaggattggccaagtccatt	13	7	0	1			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr10:5141540G>C	ENST00000380554.3	+	5	1121	c.469G>C	c.(469-471)Gca>Cca	p.A157P	AKR1C3_ENST00000605149.1_Missense_Mutation_p.A134P|AKR1C3_ENST00000439082.2_Missense_Mutation_p.A38P	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	157					arachidonic acid metabolic process (GO:0019369)|cellular response to cadmium ion (GO:0071276)|cellular response to calcium ion (GO:0071277)|cellular response to corticosteroid stimulus (GO:0071384)|cellular response to jasmonic acid stimulus (GO:0071395)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to reactive oxygen species (GO:0034614)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|G-protein coupled receptor signaling pathway (GO:0007186)|keratinocyte differentiation (GO:0030216)|male gonad development (GO:0008584)|multicellular organismal macromolecule metabolic process (GO:0044259)|negative regulation of retinoic acid biosynthetic process (GO:1900053)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|progesterone metabolic process (GO:0042448)|prostaglandin metabolic process (GO:0006693)|protein import into nucleus, translocation (GO:0000060)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of testosterone biosynthetic process (GO:2000224)|renal absorption (GO:0070293)|response to nutrient (GO:0007584)|response to prostaglandin (GO:0034694)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	15-hydroxyprostaglandin-D dehydrogenase (NADP+) activity (GO:0047020)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|dihydrotestosterone 17-beta-dehydrogenase activity (GO:0035410)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|ketoreductase activity (GO:0045703)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|prostaglandin D2 11-ketoreductase activity (GO:0036131)|prostaglandin F receptor activity (GO:0004958)|prostaglandin-F synthase activity (GO:0047017)|retinal dehydrogenase activity (GO:0001758)|retinol dehydrogenase activity (GO:0004745)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)|testosterone dehydrogenase (NAD+) activity (GO:0047035)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Bimatoprost(DB00905)|Doxorubicin(DB00997)	GTGTAAGGATGCAGGATTGGC	0.498																																						ENST00000380554.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14						c.(469-471)Gca>Cca		aldo-keto reductase family 1, member C3	Dimethyl sulfoxide(DB01093)|NADH(DB00157)						138	123	128					10																	5141540		2203	4300	6503	SO:0001583	missense	8644				prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	g.chr10:5141540G>C	L43839	CCDS7063.1, CCDS73062.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000196139	ENSG00000196139	1.1.1.213, 1.1.1.188	"Aldo-keto reductases"	386	protein-coding gene	gene with protein product	"dihydrodiol dehydrogenase X", "prostaglandin F synthase", "3-alpha hydroxysteroid dehydrogenase, type II"	603966	"hydroxysteroid (17-beta) dehydrogenase 5", "aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)"	HSD17B5		7650035, 9792917	Standard	NM_003739		Approved	KIAA0119, DDX, HAKRB, PGFS	uc021pml.1	P42330	OTTHUMG00000017585	ENST00000380554.3:c.469G>C	10.37:g.5141540G>C	ENSP00000369927:p.Ala157Pro					AKR1C3_ENST00000439082.2_Missense_Mutation_p.A38P|AKR1C3_ENST00000605149.1_Missense_Mutation_p.A134P	p.A157P	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN			5	1121	+			157					A8K2V0|B4DL37|Q5T2L1|Q96DJ1|Q96KI8|Q99530|Q9UCX1|Q9UII3|Q9UKL9	Missense_Mutation	SNP	ENST00000380554.3	37	c.469G>C	CCDS7063.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.915384	0.52546	.	.	ENSG00000196139	ENST00000439082;ENST00000380554	T;T	0.26373	1.74;1.74	2.67	2.67	0.31697	Aldo/keto reductase, conserved site (1);NADP-dependent oxidoreductase domain (3);	0.321368	0.26136	N	0.026131	T	0.49830	0.1580	M	0.84156	2.68	0.48511	D	0.999664	D;D;D	0.71674	0.964;0.998;0.998	D;D;D	0.70716	0.914;0.97;0.97	T	0.56414	-0.7983	10	0.72032	D	0.01	.	11.0735	0.48016	0.0:0.0:1.0:0.0	.	38;157;157	B4DL37;P42330;Q2XPP3	.;AK1C3_HUMAN;.	P	38;157	ENSP00000401327:A38P;ENSP00000369927:A157P	ENSP00000369927:A157P	A	+	1	0	AKR1C3	5131540	1.000000	0.71417	0.579000	0.28588	0.367000	0.29736	3.432000	0.52824	1.202000	0.43218	0.491000	0.48974	GCA		0.498	AKR1C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046533.2	NM_003739		3	117	0	0	0	1	0	3	117					C	5141540	G	C	5141540	3	2	452	1	0	0	0	0	1	0	0	0	471	1319	46	4	487	4	AKR1C3	10	5141540	Missense_Mutation	SNP	G	TCGA-H2-A3RH-01A-11D-A21Z-08		5141540	130393207	16	9195											
DLG5	9231	broad.mit.edu	37	chr10	79595529	79595529	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gctctgctacaatcttgtctCgctcctggaaggcccagtcc	9	15	3	0			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr10:79595529C>A	ENST00000372391.2	-	8	1594	c.1589G>T	c.(1588-1590)cGa>cTa	p.R530L	DLG5_ENST00000372388.2_Missense_Mutation_p.R530L	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	530					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			AATCTTGTCTCGCTCCTGGAA	0.622																																						ENST00000372391.2																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(1588-1590)cGa>cTa		discs, large homolog 5 (Drosophila)							78	61	67					10																	79595529		2203	4300	6503	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79595529C>A	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.1589G>T	10.37:g.79595529C>A	ENSP00000361467:p.Arg530Leu					DLG5_ENST00000372388.2_Missense_Mutation_p.R530L	p.R530L	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		8	1594	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		530					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.1589G>T	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042193	0.93685	.	.	ENSG00000151208	ENST00000372391;ENST00000372388	T;T	0.10960	2.82;2.88	5.8	4.9	0.64082	.	0.236203	0.22123	N	0.064314	T	0.32041	0.0816	M	0.69358	2.11	0.39852	D	0.973251	D;D;D	0.89917	1.0;1.0;0.995	D;D;D	0.91635	0.999;0.998;0.909	T	0.09378	-1.0677	10	0.66056	D	0.02	.	15.0675	0.72008	0.0:0.932:0.0:0.068	.	420;530;530	Q8TDM6-4;Q8TDM6;Q8TDM6-2	.;DLG5_HUMAN;.	L	530	ENSP00000361467:R530L;ENSP00000361464:R530L	ENSP00000361464:R530L	R	-	2	0	DLG5	79265535	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	7.487000	0.81328	1.451000	0.47736	0.655000	0.94253	CGA		0.622	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			19	22	1	0	2.37509e-13	1	2.65451e-13	19	22					A	79595529	C	A	79595529	3	1	452	1	0	0	0	0	1	0	0	0	4558	884	31	4	4270	4	DLG5	10	79595529	Missense_Mutation	SNP	C	TCGA-H2-A3RH-01A-11D-A21Z-08	74453989	79595529	55939218	17	9196											
C10orf12	26148	broad.mit.edu	37	chr10	98741586	98741586	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacagctcggaaaagtaaaAgggcatcagggctgaggata	14	6	1	2			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr10:98741586A>G	ENST00000286067.2	+	1	546	c.439A>G	c.(439-441)Agg>Ggg	p.R147G		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	147										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GAAAAGTAAAAGGGCATCAGG	0.423																																						ENST00000286067.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45						c.(439-441)Agg>Ggg		chromosome 10 open reading frame 12							95	92	93					10																	98741586		2203	4300	6503	SO:0001583	missense	26148							g.chr10:98741586A>G	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.439A>G	10.37:g.98741586A>G	ENSP00000286067:p.Arg147Gly						p.R147G	NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	546	+		Colorectal(252;0.172)	147					Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	c.439A>G	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	A	18.56	3.651069	0.67472	.	.	ENSG00000155640	ENST00000286067	T	0.12465	2.68	5.95	5.95	0.96441	.	0.382684	0.26153	N	0.026029	T	0.21145	0.0509	N	0.24115	0.695	0.40824	D	0.983539	D	0.63046	0.992	P	0.57101	0.813	T	0.01753	-1.1281	10	0.72032	D	0.01	-9.9644	16.4046	0.83654	1.0:0.0:0.0:0.0	.	147	Q8N655	CJ012_HUMAN	G	147	ENSP00000286067:R147G	ENSP00000286067:R147G	R	+	1	2	C10orf12	98731576	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.483000	0.60264	2.277000	0.76020	0.533000	0.62120	AGG		0.423	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		3	104	0	0	0	1	0	3	104					G	98741586	A	G	98741586	3	3	452	1	0	0	0	0	1	0	0	0	1589	63	3	3	441	3	C10orf12	10	98741586	Missense_Mutation	SNP	A	TCGA-H2-A3RH-01A-11D-A21Z-08	19146057	98741586	36793161	18	9197											
OR8K5	219453	broad.mit.edu	37	chr11	55926983	55926983	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaacacagaagccattttatCagtatcaaagaagtgagtgg	9	6	2	3			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr11:55926983C>A	ENST00000313447.1	-	1	810	c.811G>T	c.(811-813)Gat>Tat	p.D271Y		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GCCATTTTATCAGTATCAAAG	0.398																																						ENST00000313447.1																			0				large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(811-813)Gat>Tat		olfactory receptor, family 8, subfamily K, member 5							107	92	97					11																	55926983		2201	4296	6497	SO:0001583	missense	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55926983C>A	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"GPCR / Class A : Olfactory receptors"	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.811G>T	11.37:g.55926983C>A	ENSP00000323853:p.Asp271Tyr						p.D271Y	NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN			1	810	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	271					Q6IFB5	Missense_Mutation	SNP	ENST00000313447.1	37	c.811G>T	CCDS31521.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.766908	0.49574	.	.	ENSG00000181752	ENST00000313447	T	0.00256	8.42	3.98	3.05	0.35203	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000017	T	0.00637	0.0021	H	0.95004	3.61	0.30106	N	0.806987	D	0.89917	1.0	D	0.79784	0.993	T	0.04440	-1.0951	10	0.87932	D	0	.	5.3734	0.16152	0.0:0.7683:0.0:0.2317	.	271	Q8NH50	OR8K5_HUMAN	Y	271	ENSP00000323853:D271Y	ENSP00000323853:D271Y	D	-	1	0	OR8K5	55683559	0.000000	0.05858	0.982000	0.44146	0.860000	0.49131	-0.342000	0.07801	2.202000	0.70862	0.465000	0.42564	GAT		0.398	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		3	72	1	0	0.00909568	1	0.009601	3	72					A	55926983	C	A	55926983	3	1	452	1	0	0	0	0	1	0	0	0	11245	826	29	4	115	4	OR8K5	11	55926983	Missense_Mutation	SNP	C	TCGA-H2-A3RH-01A-11D-A21Z-08		55926983	79079533	19	9198											
FLI1	2313	broad.mit.edu	37	chr11	128680730	128680730	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaaggtgaactttgtcccTccccatccatcctccatgcc	6	17	0	2			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr11:128680730T>C	ENST00000527786.2	+	9	1695	c.1206T>C	c.(1204-1206)ccT>ccC	p.P402P	FLI1_ENST00000281428.8_Silent_p.P336P|FLI1_ENST00000344954.6_Silent_p.P369P|FLI1_ENST00000534087.2_Silent_p.P369P|FLI1_ENST00000525560.1_Silent_p.P209P	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	402					blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		ACTTTGTCCCTCCCCATCCAT	0.567			T	EWSR1	Ewing sarcoma																																	ENST00000344954.6				Dom	yes		11	11q24	2313	T	Friend leukemia virus integration 1			M	EWSR1		Ewing sarcoma	EWSR1/FLI1(2569)	0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31						c.(1105-1107)ccT>ccC		Fli-1 proto-oncogene, ETS transcription factor							107	112	110					11																	128680730		2131	4222	6353	SO:0001819	synonymous_variant	2313				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:128680730T>C	M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"Friend leukemia virus integration 1"			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.1206T>C	11.37:g.128680730T>C						FLI1_ENST00000429175.2_Silent_p.P402P|FLI1_ENST00000281428.8_Silent_p.P336P|FLI1_ENST00000534087.1_Silent_p.P369P|FLI1_ENST00000525560.1_Silent_p.P209P	p.P369P			Q01543	FLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)	9	1495	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)	402					B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Silent	SNP	ENST00000527786.2	37	c.1107T>C	CCDS44768.1																																																																																				0.567	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		3	64	0	0	0	1	0	3	64					C	128680730	T	C	128680730	2	2	452	1	0	0	0	0	0	0	0	1	5924	1538	54	3		3	FLI1	11	128680730	Silent	SNP	T	TCGA-H2-A3RH-01A-11D-A21Z-08	72753747	128680730	6325786	20	9199											
KRAS	3845	broad.mit.edu	37	chr12	25380277	25380277	+	Missense_Mutation	SNP	G	G	T													cattgcactgtactcctcttGacctgctgtgtcgagaatat					rs121913238		TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr12:25380277G>T	ENST00000256078.4	-	3	244	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K	KRAS_ENST00000557334.1_Intron|AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000311936.3_Missense_Mutation_p.Q61K	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16533793, ECO:0000269|Ref.7}.|Q -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61K(32)|p.Q61E(10)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TACTCCTCTTGACCTGCTGTG	0.413	Q61K(CALU6_LUNG)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	Q61K(CALU6_LUNG)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	42	Substitution - Missense(42)	p.Q61K(32)|p.Q61E(10)	large_intestine(13)|lung(11)|thyroid(3)|upper_aerodigestive_tract(3)|central_nervous_system(3)|urinary_tract(2)|prostate(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)|kidney(1)|pancreas(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(181-183)Caa>Aaa		Kirsten rat sarcoma viral oncogene homolog							109	97	101					12																	25380277		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25380277G>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.181C>A	12.37:g.25380277G>T	ENSP00000256078:p.Gln61Lys	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.Q61K|KRAS_ENST00000557334.1_Intron	p.Q61K	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		3	372	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		61		Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.181C>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341837	0.81911	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.83506	-1.73;-1.73	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.89100	0.6619	M	0.93808	3.46	0.80722	D	1	B;B	0.24768	0.111;0.039	B;B	0.29663	0.058;0.105	D	0.87412	0.2376	10	0.62326	D	0.03	.	19.3504	0.94381	0.0:0.0:1.0:0.0	.	61;61	P01116-2;P01116	.;RASK_HUMAN	K	61	ENSP00000308495:Q61K;ENSP00000256078:Q61K	ENSP00000256078:Q61K	Q	-	1	0	KRAS	25271544	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.796000	0.99103	2.885000	0.99019	0.655000	0.94253	CAA		0.413	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		24	47	1	0	8.58068e-18	1	9.88079e-18	24	47					T	25380277	G	T	25380277	3	4	452	1	0	0	0	0	1	0	0	0	8438	1299	45	4	521	4	KRAS	12	25380277	Missense_Mutation	SNP	G	TCGA-H2-A3RH-01A-11D-A21Z-08		25380277	108471618	21	9200	50	2									
KRAS	3845	broad.mit.edu	37	chr12	25380278	25380278	+	Silent	SNP	A	A	T													attgcactgtactcctcttgAcctgctgtgtcgagaatatc					rs397517037		TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr12:25380278A>T	ENST00000256078.4	-	3	243	c.180T>A	c.(178-180)ggT>ggA	p.G60G	KRAS_ENST00000557334.1_Intron|AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000311936.3_Silent_p.G60G	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	60			G -> R (in CFC2; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors). {ECO:0000269|PubMed:16474404}.|G -> S (in NS3). {ECO:0000269|PubMed:19396835}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61K(6)|p.G60G(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			ACTCCTCTTGACCTGCTGTGT	0.413		119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3		119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	7	Substitution - Missense(6)|Substitution - coding silent(1)	p.Q61K(6)|p.G60G(1)	large_intestine(5)|urinary_tract(1)|lung(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(178-180)ggT>ggA		Kirsten rat sarcoma viral oncogene homolog							108	96	100					12																	25380278		2203	4300	6503	SO:0001819	synonymous_variant	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25380278A>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.180T>A	12.37:g.25380278A>T		TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Silent_p.G60G|KRAS_ENST00000557334.1_Intron	p.G60G	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		3	371	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		60		G -> R (in CFC syndrome; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors).|G -> S (in NS3).			A8K8Z5|B0LPF9|P01118|Q96D10	Silent	SNP	ENST00000256078.4	37	c.180T>A	CCDS8703.1																																																																																				0.413	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		25	46	0	0	0	1	0	25	46					T	25380278	A	T	25380278	2	4	452	1	0	0	0	0	0	0	0	1	8438	262	10	5		5	KRAS	12	25380278	Silent	SNP	A	TCGA-H2-A3RH-01A-11D-A21Z-08	1	25380278	108471617	22	9201	50	2									
SACS	26278	broad.mit.edu	37	chr13	23913335	23913340	+	In_Frame_Del	DEL	AAATCC	AAATCC	-													gtgatatggtacacagaattAaatccaagaccaaattttcc							TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr13:23913335_23913340delAAATCC	ENST00000382292.3	-	9	4948_4953	c.4675_4680delGGATTT	c.(4675-4680)ggatttdel	p.GF1559del	SACS_ENST00000382298.3_In_Frame_Del_p.GF1559del|SACS_ENST00000402364.1_In_Frame_Del_p.GF809del			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1559					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ACACAGAATTAAATCCAAGACCAAAT	0.33																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(4675-4680)del		spastic ataxia of Charlevoix-Saguenay (sacsin)																																				SO:0001651	inframe_deletion	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23913335_23913340delAAATCC	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.4675_4680delGGATTT	13.37:g.23913335_23913340delAAATCC	ENSP00000371729:p.Gly1559_Phe1560del					SACS_ENST00000402364.1_In_Frame_Del_p.GF809del|SACS_ENST00000382292.3_In_Frame_Del_p.GF1559del	p.GF1559del	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	5263_5268	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1559					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	In_Frame_Del	DEL	ENST00000382292.3	37	c.4675_4680delGGATTT	CCDS9300.2																																																																																				0.33	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		10	140						10	140	---	---	---	---	-	23913340	AAATCC	-	23913335	7	5	452	1	0	1	0	1	0	0	0	0	13804	359	13	0	9063	0	SACS	13	23913335	In_Frame_Del	DEL	AAATCC	TCGA-H2-A3RH-01A-11D-A21Z-08		23913335	91256543	23	9202											
SERPINE3	647174	broad.mit.edu	37	chr13	51915403	51915403	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctcctgctggtgtgtcccTccccctggagatcctgcagt	10	16	1	1			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr13:51915403T>C	ENST00000521255.1	+	1	236	c.176T>C	c.(175-177)cTc>cCc	p.L59P	SERPINE3_ENST00000524365.1_Missense_Mutation_p.L59P|SERPINE3_ENST00000400389.4_Missense_Mutation_p.L59P	NM_001101320.1	NP_001094790.1	A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	59					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			ovary(2)	2						GGTGTGTCCCTCCCCCTGGAG	0.557																																						ENST00000524365.1																			0				ovary(2)	2						c.(175-177)cTc>cCc		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3							77	82	80					13																	51915403		2137	4249	6386	SO:0001583	missense	647174				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr13:51915403T>C	AX772926	CCDS53870.1	13q14.3	2014-02-18			ENSG00000253309	ENSG00000253309		"Serine (or cysteine) peptidase inhibitors"	24774	protein-coding gene	gene with protein product						24172014	Standard	NM_001101320		Approved		uc001vfh.2	A8MV23	OTTHUMG00000016943	ENST00000521255.1:c.176T>C	13.37:g.51915403T>C	ENSP00000428316:p.Leu59Pro					SERPINE3_ENST00000521255.1_Missense_Mutation_p.L59P|SERPINE3_ENST00000400389.4_Missense_Mutation_p.L59P	p.L59P			A8MV23	SERP3_HUMAN			4	801	+			59					B1V8P3	Missense_Mutation	SNP	ENST00000521255.1	37	c.176T>C	CCDS53870.1	.	.	.	.	.	.	.	.	.	.	T	15.03	2.711835	0.48517	.	.	ENSG00000253309	ENST00000524365;ENST00000521255;ENST00000400389	T;T;T	0.24723	1.84;1.84;1.84	4.15	4.15	0.48705	Serpin domain (3);	0.546002	0.14503	U	0.315613	T	0.42698	0.1214	L	0.56769	1.78	0.29037	N	0.885346	D;D	0.67145	0.995;0.996	P;D	0.66979	0.865;0.948	T	0.23726	-1.0180	10	0.52906	T	0.07	.	8.9806	0.35964	0.0:0.0:0.1868:0.8132	.	59;59	A8MV23-2;A8MV23	.;SERP3_HUMAN	P	59	ENSP00000430755:L59P;ENSP00000428316:L59P;ENSP00000441468:L59P	ENSP00000441468:L59P	L	+	2	0	SERPINE3	50813404	0.113000	0.22115	0.002000	0.10522	0.001000	0.01503	3.066000	0.50002	1.749000	0.51849	0.533000	0.62120	CTC		0.557	SERPINE3-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045021.2	NM_001101320		3	51	0	0	0	1	0	3	51					C	51915403	T	C	51915403	3	2	452	1	0	0	0	0	1	0	0	0	14113	1551	54	3	178	3	SERPINE3	13	51915403	Missense_Mutation	SNP	T	TCGA-H2-A3RH-01A-11D-A21Z-08	28002068	51915403	63254475	24	9203											
IREB2	3658	broad.mit.edu	37	chr15	78755395	78755395	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagcaatgttgaagtgcccTttttccctgcccgtgttctt	8	11	1	1			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr15:78755395T>C	ENST00000258886.8	+	3	387	c.238T>C	c.(238-240)Ttt>Ctt	p.F80L	IREB2_ENST00000560440.1_Missense_Mutation_p.F80L	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	80					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TGAAGTGCCCTTTTTCCCTGC	0.358																																					NSCLC(200;764 2208 35157 49871 50830)	ENST00000258886.8																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						c.(238-240)Ttt>Ctt		iron-responsive element binding protein 2							227	211	216					15																	78755395		2196	4293	6489	SO:0001583	missense	3658						4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	g.chr15:78755395T>C	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.238T>C	15.37:g.78755395T>C	ENSP00000258886:p.Phe80Leu					IREB2_ENST00000560440.1_Missense_Mutation_p.F80L	p.F80L	NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.232)	3	387	+			80					A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	ENST00000258886.8	37	c.238T>C	CCDS10302.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.914635	0.92178	.	.	ENSG00000136381	ENST00000258886	T	0.36157	1.27	5.87	3.59	0.41128	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.041546	0.85682	N	0.000000	T	0.54919	0.1888	M	0.69463	2.115	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.993;0.998	T	0.53351	-0.8451	10	0.56958	D	0.05	.	10.4942	0.44768	0.0:0.1196:0.0:0.8804	.	80;80	P48200;Q8WVK6	IREB2_HUMAN;.	L	80	ENSP00000258886:F80L	ENSP00000258886:F80L	F	+	1	0	IREB2	76542450	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.978000	0.70501	0.580000	0.29522	0.533000	0.62120	TTT		0.358	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136		4	227	0	0	0	1	0	4	227					C	78755395	T	C	78755395	3	2	452	1	0	0	0	0	1	0	0	0	7826	1609	56	3	248	3	IREB2	15	78755395	Missense_Mutation	SNP	T	TCGA-H2-A3RH-01A-11D-A21Z-08		78755395	23775997	25	9204											
TUBG1	7283	broad.mit.edu	37	chr17	40762598	40762598	+	Missense_Mutation	SNP	G	G	C													tggcaacaactgggccagcgGattctcccaggtcgtttcct							TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr17:40762598G>C	ENST00000251413.3	+	3	382	c.320G>C	c.(319-321)gGa>gCa	p.G107A	FAM134C_ENST00000585894.1_De_novo_Start_OutOfFrame|FAM134C_ENST00000543197.1_5'Flank|FAM134C_ENST00000309428.5_5'Flank	NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	107					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	TGGGCCAGCGGATTCTCCCAG	0.572																																					Colon(20;114 698 11420 22864)	ENST00000585894.1																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11								family with sequence similarity 134, member C							55	57	56					17																	40762598		2203	4300	6503	SO:0001583	missense	162427					integral to membrane		g.chr17:40762598G>C	BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"Tubulins"	12417	protein-coding gene	gene with protein product		191135	"tubulin, gamma polypeptide"	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		ENST00000251413.3:c.320G>C	17.37:g.40762598G>C	ENSP00000251413:p.Gly107Ala					TUBG1_ENST00000251413.3_Missense_Mutation_p.G107A				Q86VR2	F134C_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.134)	0	43	-		Breast(137;0.00116)						Q53X79|Q9BW59	Translation_Start_Site	SNP	ENST00000251413.3	37		CCDS11433.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855888	0.91355	.	.	ENSG00000131462	ENST00000251413	D	0.81821	-1.54	5.84	5.84	0.93424	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.64402	U	0.000001	D	0.89962	0.6867	H	0.98646	4.29	0.80722	D	1	P	0.38565	0.637	B	0.38921	0.285	D	0.92413	0.5939	10	0.87932	D	0	-2.8094	20.2033	0.98269	0.0:0.0:1.0:0.0	.	107	P23258	TBG1_HUMAN	A	107	ENSP00000251413:G107A	ENSP00000251413:G107A	G	+	2	0	TUBG1	38016124	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.833000	0.99426	2.785000	0.95823	0.650000	0.86243	GGA		0.572	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450548.1	NM_001070		8	78	0	0	0	1	0	8	78					C	40762598	G	C	40762598	3	2	452	1	0	0	0	0	1	0	0	0	16761	1174	41	4	330	4	TUBG1	17	40762598	Missense_Mutation	SNP	G	TCGA-H2-A3RH-01A-11D-A21Z-08		40762598	40432612	26	9205	51	2									
TUBG1	7283	broad.mit.edu	37	chr17	40762599	40762599	+	Silent	SNP	A	A	G													ggcaacaactgggccagcggAttctcccaggtcgtttccta							TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr17:40762599A>G	ENST00000251413.3	+	3	383	c.321A>G	c.(319-321)ggA>ggG	p.G107G	FAM134C_ENST00000585894.1_5'UTR|FAM134C_ENST00000543197.1_5'Flank|FAM134C_ENST00000309428.5_5'Flank	NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	107					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	GGGCCAGCGGATTCTCCCAGG	0.572																																					Colon(20;114 698 11420 22864)	ENST00000251413.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(319-321)ggA>ggG		tubulin, gamma 1							55	57	56					17																	40762599		2203	4300	6503	SO:0001819	synonymous_variant	7283				G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton	g.chr17:40762599A>G	BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"Tubulins"	12417	protein-coding gene	gene with protein product		191135	"tubulin, gamma polypeptide"	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		ENST00000251413.3:c.321A>G	17.37:g.40762599A>G						FAM134C_ENST00000585894.1_5'UTR	p.G107G	NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	3	383	+		Breast(137;0.00116)	107					Q53X79|Q9BW59	Silent	SNP	ENST00000251413.3	37	c.321A>G	CCDS11433.1																																																																																				0.572	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450548.1	NM_001070		8	75	0	0	0	1	0	8	75					G	40762599	A	G	40762599	2	3	452	1	0	0	0	0	0	0	0	1	16761	320	12	3		3	TUBG1	17	40762599	Silent	SNP	A	TCGA-H2-A3RH-01A-11D-A21Z-08	1	40762599	40432611	27	9206	51	2									
MRPL10	124995	broad.mit.edu	37	chr17	45904011	45904011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcttgctcacctagcagcGgcaggaatggcacagtcctt	12	12	1	0	rs372584381		TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr17:45904011G>A	ENST00000351111.2	-	4	529	c.524C>T	c.(523-525)cCg>cTg	p.P175L	MRPL10_ENST00000290208.7_Missense_Mutation_p.P185L|MRPL10_ENST00000414011.1_Missense_Mutation_p.P185L	NM_145255.3	NP_660298.2	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	175					ribosome biogenesis (GO:0042254)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						ACCTAGCAGCGGCAGGAATGG	0.557																																						ENST00000290208.7																			0				endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						c.(553-555)cCg>cTg		mitochondrial ribosomal protein L10		G	LEU/PRO,LEU/PRO	0,4406		0,0,2203	70	66	68		524,554	5.6	1.0	17		68	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MRPL10	NM_145255.3,NM_148887.2	98,98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	175/262,185/272	45904011	1,13005	2203	4300	6503	SO:0001583	missense	124995				ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr17:45904011G>A	AB051618	CCDS11516.1, CCDS11517.1	17q21.3	2012-09-13			ENSG00000159111	ENSG00000159111		"Mitochondrial ribosomal proteins / large subunits"	14055	protein-coding gene	gene with protein product	"39S ribosomal protein L10, mitochondrial"	611825				11551941	Standard	NM_148887		Approved	RPML8, MRP-L8, L10MT, MRP-L10, MRPL8, MGC17973	uc002ily.3	Q7Z7H8	OTTHUMG00000156302	ENST00000351111.2:c.524C>T	17.37:g.45904011G>A	ENSP00000324100:p.Pro175Leu					MRPL10_ENST00000351111.2_Missense_Mutation_p.P175L|MRPL10_ENST00000414011.1_Missense_Mutation_p.P185L	p.P185L			Q7Z7H8	RM10_HUMAN			4	1006	-			175					A6NGJ4|Q96B80|Q96Q55	Missense_Mutation	SNP	ENST00000351111.2	37	c.554C>T	CCDS11516.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.500159	0.26861	0.0	1.16E-4	ENSG00000159111	ENST00000351111;ENST00000290208;ENST00000414011	T;T;T	0.39229	1.09;1.09;1.09	5.62	5.62	0.85841	.	0.332161	0.37809	N	0.001926	T	0.38852	0.1056	M	0.63843	1.955	0.44562	D	0.997527	B;B	0.13594	0.003;0.008	B;B	0.06405	0.002;0.002	T	0.17077	-1.0381	10	0.28530	T	0.3	-4.5819	10.6399	0.45586	0.0873:0.0:0.9127:0.0	.	175;185	Q7Z7H8;A6NGJ4	RM10_HUMAN;.	L	175;185;185	ENSP00000324100:P175L;ENSP00000290208:P185L;ENSP00000395870:P185L	ENSP00000290208:P185L	P	-	2	0	MRPL10	43259010	0.182000	0.23173	0.966000	0.40874	0.541000	0.35023	1.218000	0.32467	2.657000	0.90304	0.561000	0.74099	CCG		0.557	MRPL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343764.1	NM_145255		7	119	0	0	0	1	0	7	119					A	45904011	G	A	45904011	3	1	452	1	0	0	0	0	1	0	0	0	9775	1116	39	1	269	1	MRPL10	17	45904011	Missense_Mutation	SNP	G	TCGA-H2-A3RH-01A-11D-A21Z-08	5141412	45904011	35291199	28	9207											
GRAMD1A	57655	broad.mit.edu	37	chr19	35500211	35500211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccagagcctaggcagccGgaacttcatccgcaacagca	9	16	1	1			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr19:35500211G>A	ENST00000317991.5	+	2	389	c.197G>A	c.(196-198)cGg>cAg	p.R66Q	GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000599564.1_Missense_Mutation_p.R153Q|GRAMD1A_ENST00000598073.1_3'UTR|GRAMD1A_ENST00000424536.2_Missense_Mutation_p.R66Q|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R66Q	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	66						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CTAGGCAGCCGGAACTTCATC	0.637																																						ENST00000599564.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(457-459)cGg>cAg		GRAM domain containing 1A							41	49	46					19																	35500211		1967	4135	6102	SO:0001583	missense	57655					integral to membrane		g.chr19:35500211G>A	AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"KIAA1533"	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.197G>A	19.37:g.35500211G>A	ENSP00000441032:p.Arg66Gln					GRAMD1A_ENST00000317991.5_Missense_Mutation_p.R66Q|GRAMD1A_ENST00000598073.1_3'UTR|GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000424536.2_Missense_Mutation_p.R66Q|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R66Q	p.R153Q			Q96CP6	GRM1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		3	529	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		66			GRAM.		A6NKY7|Q8NC77|Q9P1Z5	Missense_Mutation	SNP	ENST00000317991.5	37	c.458G>A	CCDS42546.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.919022	0.92249	.	.	ENSG00000089351	ENST00000453966;ENST00000317991;ENST00000411896	T;T	0.25749	1.81;1.78	4.67	4.67	0.58626	.	0.184638	0.37577	N	0.002038	T	0.38532	0.1044	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.97	D;P;P;P	0.78314	0.991;0.733;0.897;0.705	T	0.15037	-1.0451	10	0.51188	T	0.08	.	15.1055	0.72319	0.0:0.0:1.0:0.0	.	66;66;66;153	Q96CP6-3;Q96CP6;Q96CP6-2;F5GZ02	.;GRM1A_HUMAN;.;.	Q	153;66;66	ENSP00000441032:R66Q;ENSP00000439267:R66Q	ENSP00000441032:R66Q	R	+	2	0	GRAMD1A	40192051	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	5.093000	0.64517	2.426000	0.82243	0.561000	0.74099	CGG		0.637	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	NM_020895		3	69	0	0	0	1	0	3	69					A	35500211	G	A	35500211	3	1	452	1	0	0	0	0	1	0	0	0	6747	1116	39	1	203	1	GRAMD1A	19	35500211	Missense_Mutation	SNP	G	TCGA-H2-A3RH-01A-11D-A21Z-08		35500211	23628772	29	9208											
ZNF135	7694	broad.mit.edu	37	chr19	58578503	58578503	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaaaccctacaaatgtcaGgaatgcggaaaggcctttag	11	8	1	1			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr19:58578503G>A	ENST00000313434.5	+	5	752	c.651G>A	c.(649-651)caG>caA	p.Q217Q	ZNF135_ENST00000511556.1_Silent_p.Q229Q|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000506786.1_Silent_p.Q175Q|ZNF135_ENST00000359978.6_Silent_p.Q229Q|ZNF135_ENST00000439855.2_Silent_p.Q217Q|ZNF135_ENST00000401053.4_Silent_p.Q241Q	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	217					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		ACAAATGTCAGGAATGCGGAA	0.473																																						ENST00000506786.1																			0				breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41						c.(523-525)caG>caA		zinc finger protein 135							110	103	106					19																	58578503		2203	4300	6503	SO:0001819	synonymous_variant	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58578503G>A	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"Zinc fingers, C2H2-type", "-"	12919	protein-coding gene	gene with protein product		604077	"zinc finger protein 61", "zinc finger protein 135 (clone pHZ-17)"	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.651G>A	19.37:g.58578503G>A						ZNF135_ENST00000511556.1_Silent_p.Q229Q|ZNF135_ENST00000313434.5_Silent_p.Q217Q|ZNF135_ENST00000439855.2_Silent_p.Q217Q|ZNF135_ENST00000401053.4_Silent_p.Q241Q|ZNF135_ENST00000359978.6_Silent_p.Q229Q	p.Q175Q			B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	5	1079	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	229					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Silent	SNP	ENST00000313434.5	37	c.525G>A		.	.	.	.	.	.	.	.	.	.	G	0.083	-1.179733	0.01633	.	.	ENSG00000176293	ENST00000391699	.	.	.	3.49	2.44	0.29823	.	.	.	.	.	T	0.32882	0.0844	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.20338	-1.0278	4	.	.	.	.	6.9535	0.24558	0.2208:0.0:0.7792:0.0	.	.	.	.	K	235	.	.	R	+	2	0	ZNF135	63270315	0.000000	0.05858	0.546000	0.28166	0.314000	0.28054	-0.575000	0.05861	0.833000	0.34828	-0.259000	0.10710	AGG		0.473	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		3	119	0	0	0	1	0	3	119					A	58578503	G	A	58578503	2	1	452	1	0	0	0	0	0	0	0	1	17722	1001	35	2		2	ZNF135	19	58578503	Silent	SNP	G	TCGA-H2-A3RH-01A-11D-A21Z-08	23078292	58578503	550480	30	9209											
AOX1	316	broad.mit.edu	37	chr2	201485429	201485429	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggccaccccatcatgcatctGtctggtgtgaagcatgccac	10	14	3	1			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr2:201485429G>C	ENST00000374700.2	+	17	2002	c.1761G>C	c.(1759-1761)ctG>ctC	p.L587L	AOX1_ENST00000485106.1_Intron	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	587					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)			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)	TCATGCATCTGTCTGGTGTGA	0.443																																						ENST00000374700.2																			0				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.(1759-1761)ctG>ctC		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)						114	98	103					2																	201485429		2203	4300	6503	SO:0001819	synonymous_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.chr2:201485429G>C	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.1761G>C	2.37:g.201485429G>C						AOX1_ENST00000485106.1_Intron	p.L587L	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN			17	2002	+			587					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Silent	SNP	ENST00000374700.2	37	c.1761G>C	CCDS33360.1																																																																																				0.443	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		4	97	0	0	0	0.009096	0	4	97					C	201485429	G	C	201485429	2	2	453	1	0	0	0	0	0	0	0	1	729	1364	48	4		4	AOX1	2	201485429	Silent	SNP	G	TCGA-H2-A3RI-01A-11D-A21Z-08		201485429	41713944	1	9210											
NOP16	51491	broad.mit.edu	37	chr5	175815258	175815258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcttacggaggggcaccGccctgttggggtccacagcc	13	14	1	0	rs376625530		TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr5:175815258G>A	ENST00000389158.5	-	2	629	c.194C>T	c.(193-195)gCg>gTg	p.A65V	NOP16_ENST00000509257.1_Missense_Mutation_p.A65V|NOP16_ENST00000507413.1_Intron|NOP16_ENST00000510123.1_Missense_Mutation_p.A65V|HIGD2A_ENST00000274787.2_5'Flank			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein	65						intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						GAGGGGCACCGCCCTGTTGGG	0.587																																						ENST00000389158.5																			0				central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						c.(193-195)gCg>gTg		NOP16 nucleolar protein		G	VAL/ALA	0,4046		0,0,2023	66	73	71		194	4.3	1.0	5		71	1,8319		0,1,4159	no	missense	NOP16	NM_016391.4	64	0,1,6182	AA,AG,GG		0.012,0.0,0.0081	benign	65/179	175815258	1,12365	2023	4160	6183	SO:0001583	missense	51491					nucleolus		g.chr5:175815258G>A		CCDS43403.1, CCDS58991.1	5q35.2	2012-12-10	2012-12-10		ENSG00000048162	ENSG00000048162			26934	protein-coding gene	gene with protein product	"hypothetical protein HSPC111", "HBV pre-S2 trans-regulated protein 3"	612861	"nucleolar protein 16 homolog (yeast)", "NOP16 nucleolar protein homolog (yeast)"			10810093, 11042152	Standard	NM_001291308		Approved	HSPC111, HSPC185, LOC51491	uc003mee.4	Q9Y3C1	OTTHUMG00000163186	ENST00000389158.5:c.194C>T	5.37:g.175815258G>A	ENSP00000373810:p.Ala65Val					NOP16_ENST00000507413.1_Intron|NOP16_ENST00000509257.1_Missense_Mutation_p.A65V|NOP16_ENST00000510123.1_Missense_Mutation_p.A65V	p.A65V			Q9Y3C1	NOP16_HUMAN			2	629	-			65					B4DV13|D6RGD3|Q05D05|Q6IAI6|Q8IXL5	Missense_Mutation	SNP	ENST00000389158.5	37	c.194C>T	CCDS43403.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759365	0.69763	0.0	1.2E-4	ENSG00000048162	ENST00000389158;ENST00000510123;ENST00000451293;ENST00000509257	.	.	.	5.21	4.34	0.51931	.	.	.	.	.	T	0.58736	0.2143	M	0.68728	2.09	0.49483	D	0.999791	P;B;D;P	0.57571	0.634;0.068;0.98;0.916	B;B;P;B	0.47673	0.154;0.021;0.554;0.387	T	0.58014	-0.7711	8	0.15952	T	0.53	.	13.6261	0.62165	0.0739:0.0:0.926:0.0	.	65;65;65;65	B4E098;Q9Y3C1;Q6PIM0;D6RGD3	.;NOP16_HUMAN;.;.	V	65	.	ENSP00000373810:A65V	A	-	2	0	NOP16	175747864	1.000000	0.71417	0.992000	0.48379	0.362000	0.29581	4.299000	0.59073	1.437000	0.47472	0.561000	0.74099	GCG		0.587	NOP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371963.1	NM_016391		4	114	0	0	0	0.009096	0	4	114					A	175815258	G	A	175815258	3	1	453	1	0	0	0	0	1	0	0	0	10537	1087	38	1	357	1	NOP16	5	175815258	Missense_Mutation	SNP	G	TCGA-H2-A3RI-01A-11D-A21Z-08		175815258	5100002	2	9211											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		43	70	0	0	0	0.139131	0	43	70					T	140453136	A	T	140453136	3	4	453	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-H2-A3RI-01A-11D-A21Z-08		140453136	18685527	3	9212											
PIWIL2	55124	broad.mit.edu	37	chr8	22138985	22138985	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggatccaaaagtgttggcgGctggggacagcaagatggca	17	7	0	1			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr8:22138985G>A	ENST00000454009.2	+	4	891	c.382G>A	c.(382-384)Gct>Act	p.A128T	PIWIL2_ENST00000521356.1_Missense_Mutation_p.A128T|PIWIL2_ENST00000356766.6_Missense_Mutation_p.A128T	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	128					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		AGTGTTGGCGGCTGGGGACAG	0.488																																						ENST00000356766.6																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(382-384)Gct>Act		piwi-like RNA-mediated gene silencing 2							100	105	103					8																	22138985		2203	4300	6503	SO:0001583	missense	55124				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22138985G>A	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"Argonaute/PIWI family"	17644	protein-coding gene	gene with protein product	"Hiwi-like", "cancer/testis antigen 80"	610312	"piwi-like 2 (Drosophila)"			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.382G>A	8.37:g.22138985G>A	ENSP00000406956:p.Ala128Thr					PIWIL2_ENST00000521356.1_Missense_Mutation_p.A128T|PIWIL2_ENST00000454009.2_Missense_Mutation_p.A128T	p.A128T	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	4	530	+			128					A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	c.382G>A	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979314	0.53827	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.05258	3.48;3.47;3.48	5.55	3.76	0.43208	.	0.266613	0.31709	N	0.007190	T	0.04679	0.0127	L	0.29908	0.895	0.30162	N	0.802054	B;B	0.24258	0.1;0.1	B;B	0.18561	0.022;0.022	T	0.28839	-1.0031	10	0.20519	T	0.43	.	8.2168	0.31516	0.0805:0.0:0.7637:0.1558	.	128;128	E7ECA4;Q8TC59	.;PIWL2_HUMAN	T	128	ENSP00000349208:A128T;ENSP00000428267:A128T;ENSP00000406956:A128T	ENSP00000349208:A128T	A	+	1	0	PIWIL2	22194930	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	2.688000	0.46984	0.718000	0.32166	0.561000	0.74099	GCT		0.488	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			4	130	0	0	0	0.009096	0	4	130					A	22138985	G	A	22138985	3	1	453	1	0	0	0	0	1	0	0	0	11958	1203	42	2	392	2	PIWIL2	8	22138985	Missense_Mutation	SNP	G	TCGA-H2-A3RI-01A-11D-A21Z-08		22138985	124225037	4	9213											
KIAA1797	54914	broad.mit.edu	37	chr9	20982426	20982426	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagatgatgatgccaatcGgatcgcccaggttactaagg	12	9	0	3			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr9:20982426G>A	ENST00000380249.1	+	41	5073	c.4709G>A	c.(4708-4710)cGg>cAg	p.R1570Q	FOCAD_ENST00000338382.6_Missense_Mutation_p.R1570Q|FOCAD_ENST00000605086.1_Missense_Mutation_p.R1006Q	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1570						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											GATGCCAATCGGATCGCCCAG	0.353																																						ENST00000380249.1																			0											c.(4708-4710)cGg>cAg		focadhesin							127	133	131					9																	20982426		2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20982426G>A	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"KIAA1797"	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.4709G>A	9.37:g.20982426G>A	ENSP00000369599:p.Arg1570Gln					FOCAD_ENST00000338382.6_Missense_Mutation_p.R1570Q|FOCAD_ENST00000605086.1_Missense_Mutation_p.R1006Q	p.R1570Q	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN			41	5073	+			1570					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.4709G>A	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.428263	0.25726	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.18960	2.18;2.18	5.83	3.8	0.43715	.	0.061048	0.64402	N	0.000004	T	0.16085	0.0387	L	0.43701	1.375	0.21499	N	0.999665	B	0.22541	0.071	B	0.17098	0.017	T	0.22417	-1.0217	10	0.22706	T	0.39	-28.0448	8.5708	0.33567	0.2557:0.0:0.7443:0.0	.	1570	Q5VW36	K1797_HUMAN	Q	1570	ENSP00000369599:R1570Q;ENSP00000344307:R1570Q	ENSP00000344307:R1570Q	R	+	2	0	KIAA1797	20972426	0.631000	0.27164	0.005000	0.12908	0.562000	0.35680	2.675000	0.46875	0.670000	0.31165	0.561000	0.74099	CGG		0.353	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		3	91	0	0	0	0.009096	0	3	91					A	20982426	G	A	20982426	3	1	453	1	0	0	0	0	1	0	0	0	8258	1116	39	1	4859	1	KIAA1797	9	20982426	Missense_Mutation	SNP	G	TCGA-H2-A3RI-01A-11D-A21Z-08		20982426	120231005	5	9214											
UNC5B	219699	broad.mit.edu	37	chr10	73055692	73055692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcccccatgcccattggaGgagcaagctgctggccaaat	10	15	0	0			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr10:73055692G>A	ENST00000335350.6	+	14	2716	c.2300G>A	c.(2299-2301)aGg>aAg	p.R767K	UNC5B_ENST00000373192.4_Missense_Mutation_p.R756K	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	767	UPA domain. {ECO:0000250}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GCCCATTGGAGGAGCAAGCTG	0.632																																						ENST00000335350.6																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						c.(2299-2301)aGg>aAg		unc-5 homolog B (C. elegans)							100	83	89					10																	73055692		2203	4300	6503	SO:0001583	missense	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73055692G>A	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"Immunoglobulin superfamily / I-set domain containing"	12568	protein-coding gene	gene with protein product		607870	"unc5 (C.elegans homolog) b"				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.2300G>A	10.37:g.73055692G>A	ENSP00000334329:p.Arg767Lys					UNC5B_ENST00000373192.4_Missense_Mutation_p.R756K	p.R767K	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN			14	2716	+			767					Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	c.2300G>A	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.243225	0.22796	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.45276	0.96;0.9	5.01	3.16	0.36331	.	0.051724	0.85682	N	0.000000	T	0.27559	0.0677	L	0.28274	0.84	0.52501	D	0.99995	B;B	0.33549	0.417;0.293	B;B	0.36719	0.231;0.116	T	0.02743	-1.1116	10	0.08599	T	0.76	-18.0092	10.734	0.46113	0.1542:0.0:0.8458:0.0	.	756;767	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	K	767;756	ENSP00000334329:R767K;ENSP00000362288:R756K	ENSP00000334329:R767K	R	+	2	0	UNC5B	72725698	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.053000	0.57427	0.520000	0.28426	0.579000	0.79373	AGG		0.632	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		3	111	0	0	0	0.115264	0	3	111					A	73055692	G	A	73055692	3	1	453	1	0	0	0	0	1	0	0	0	16989	1000	35	2	2354	2	UNC5B	10	73055692	Missense_Mutation	SNP	G	TCGA-H2-A3RI-01A-11D-A21Z-08		73055692	62479055	6	9215											
PVRL1	5818	broad.mit.edu	37	chr11	119535678	119535680	+	In_Frame_Del	DEL	CCT	CCT	-													gcgctcgccccctccaccgcCctcctcctcctcctcctcct					rs539461545|rs375181781|rs369523216		TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr11:119535678_119535680delCCT	ENST00000264025.3	-	6	1861_1863	c.1331_1333delAGG	c.(1330-1335)gagggc>ggc	p.E444del	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	444	Poly-Glu.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)	p.E444fs*>73(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCTCCACCGCcctcctcctcctc	0.66																																						ENST00000264025.3																			1	Deletion - Frameshift(1)	p.E444fs*>73(1)	kidney(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1330-1335)ggc>g		poliovirus receptor-related 1 (herpesvirus entry mediator C)																																				SO:0001651	inframe_deletion	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119535678_119535680delCCT	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9706	protein-coding gene	gene with protein product	"nectin"	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1331_1333delAGG	11.37:g.119535687_119535689delCCT	ENSP00000264025:p.Glu444del					PVRL1_ENST00000341398.2_Intron	p.EG444del	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	6	1861_1863	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	444			Poly-Glu.		O75465|Q2M3D3|Q9HBE6|Q9HBW2	In_Frame_Del	DEL	ENST00000264025.3	37	c.1331_1333delAGG	CCDS8426.1																																																																																				0.66	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1			9	35						9	35	---	---	---	---	-	119535680	CCT	-	119535678	7	5	453	1	0	1	0	1	0	0	0	0	12839	623	22	0	610	0	PVRL1	11	119535678	In_Frame_Del	DEL	CCT	TCGA-H2-A3RI-01A-11D-A21Z-08		119535678	15470838	7	9216											
ITGAD	3681	broad.mit.edu	37	chr16	31425789	31425789	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtgacatccaaagctctGtcaggtttgatctggcactg	11	10	3	2	rs139794241	byFrequency	TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr16:31425789G>A	ENST00000389202.2	+	17	2063	c.2014G>A	c.(2014-2016)Gtc>Atc	p.V672I		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	672					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCAAAGCTCTGTCAGGTTTGA	0.443																																						ENST00000389202.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2014-2016)Gtc>Atc		integrin, alpha D							156	168	164					16																	31425789		2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31425789G>A	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"CD molecules", "Integrins"	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2014G>A	16.37:g.31425789G>A	ENSP00000373854:p.Val672Ile						p.V672I	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN			17	2063	+			672					Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.2014G>A	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	G	5.694	0.312574	0.10789	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.43294	0.95	4.7	0.387	0.16259	Integrin alpha-2 (1);	.	.	.	.	T	0.37839	0.1018	M	0.64997	1.995	0.21064	N	0.999792	B;B	0.13594	0.008;0.008	B;B	0.27076	0.076;0.076	T	0.37641	-0.9697	9	0.25751	T	0.34	.	7.2475	0.26129	0.3859:0.0:0.6141:0.0	.	688;672	Q59H14;Q13349	.;ITAD_HUMAN	I	688;672	ENSP00000373854:V672I	ENSP00000373854:V672I	V	+	1	0	ITGAD	31333290	0.001000	0.12720	0.193000	0.23327	0.220000	0.24768	0.031000	0.13710	-0.145000	0.11294	-0.357000	0.07601	GTC		0.443	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		6	273	0	0	0	0.02938	0	6	273					A	31425789	G	A	31425789	3	1	453	1	0	0	0	0	1	0	0	0	7884	1377	48	2	2080	2	ITGAD	16	31425789	Missense_Mutation	SNP	G	TCGA-H2-A3RI-01A-11D-A21Z-08		31425789	58928964	8	9217											
DNAH9	1770	broad.mit.edu	37	chr17	11872791	11872791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctttcaacctgaagactaagGaaaacccatccaagtgggtt	8	10	1	2			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr17:11872791G>A	ENST00000262442.4	+	69	13476	c.13408G>A	c.(13408-13410)Gaa>Aaa	p.E4470K	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.E4394K|DNAH9_ENST00000608377.1_Missense_Mutation_p.E782K|RP11-1096G20.5_ENST00000580270.1_RNA	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4470					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAAGACTAAGGAAAACCCATC	0.512																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(13408-13410)Gaa>Aaa		dynein, axonemal, heavy chain 9							52	47	49					17																	11872791		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11872791G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.13408G>A	17.37:g.11872791G>A	ENSP00000262442:p.Glu4470Lys					DNAH9_ENST00000396001.2_Missense_Mutation_p.E782K|RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000454412.2_Missense_Mutation_p.E4394K	p.E4470K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	69	13476	+		Breast(5;0.0122)|all_epithelial(5;0.131)	4470					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.13408G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492475	0.84962	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	T;T;T	0.08807	3.05;3.05;3.05	5.43	4.47	0.54385	Dynein heavy chain (1);	0.327716	0.35349	N	0.003276	T	0.20820	0.0501	L	0.42008	1.315	0.58432	D	0.999997	D	0.58620	0.983	D	0.66351	0.943	T	0.00967	-1.1497	10	0.44086	T	0.13	.	16.5588	0.84534	0.0:0.1304:0.8696:0.0	.	4470	Q9NYC9	DYH9_HUMAN	K	4470;4394;2976;782	ENSP00000262442:E4470K;ENSP00000414874:E4394K;ENSP00000379323:E782K	ENSP00000262442:E4470K	E	+	1	0	DNAH9	11813516	1.000000	0.71417	0.998000	0.56505	0.883000	0.51084	6.068000	0.71201	1.529000	0.49120	-0.127000	0.14921	GAA		0.512	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		4	44	0	0	0	0.009096	0	4	44					A	11872791	G	A	11872791	3	1	453	1	0	0	0	0	1	0	0	0	4608	1175	41	2	13682	2	DNAH9	17	11872791	Missense_Mutation	SNP	G	TCGA-H2-A3RI-01A-11D-A21Z-08		11872791	69322419	9	9218											
ZNF43	7594	broad.mit.edu	37	chr19	22002025	22002026	+	Splice_Site	INS	-	-	A													cataaatgtcaatggtccctINSaaaaaaaacaacacatacac							TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr19:22002025_22002026insA	ENST00000354959.4	-	2	173		c.e2-2		ZNF43_ENST00000594012.1_Splice_Site|ZNF43_ENST00000598288.1_Splice_Site|ZNF43_ENST00000595461.1_Splice_Site|ZNF43_ENST00000598381.1_Splice_Site	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CAATGGTCCCTAAAAAAAACAA	0.386																																						ENST00000594012.1																			1	Unknown(1)	p.?(1)	ovary(1)	autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51						c.e5-2		zinc finger protein 43																																				SO:0001630	splice_region_variant	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22002025_22002026insA	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"Zinc fingers, C2H2-type", "-"	13109	protein-coding gene	gene with protein product		603972	"zinc finger protein 39-like 1 (KOX 27)", "zinc finger protein 43 (HTF6)"	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.4-2->T	19.37:g.22002033_22002033dupA						ZNF43_ENST00000595461.1_Splice_Site|ZNF43_ENST00000598288.1_Splice_Site|ZNF43_ENST00000598381.1_Splice_Site|ZNF43_ENST00000354959.4_Splice_Site		NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	5	500	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)						A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Splice_Site	INS	ENST00000354959.4	37		CCDS12413.2																																																																																				0.386	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423	Intron	9	157						9	157	---	---	---	---	A	22002026	-	A	22002025	8	5	453	1	0	1	1	0	0	0	1	0	17900	1536	53	0	2439	0	ZNF43	19	22002025	Splice_Site	INS	-	TCGA-H2-A3RI-01A-11D-A21Z-08		22002025	37126958	10	9219											
TGFB1	80776	broad.mit.edu	37	chr19	41858919	41858921	+	IGR	DEL	GCG	GCG	-													ccacagcagcggtagcagcaGcggcagcagccgcagcccgg					rs1800470|rs201844761	byFrequency	TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr19:41858919_41858921delGCG	ENST00000243578.3	-	0	1027				TMEM91_ENST00000604123.1_5'Flank|TGFB1_ENST00000221930.5_In_Frame_Del_p.P10del|TMEM91_ENST00000539627.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron	NM_030578.3	NP_085055.2	Q9BPU9	B9D2_HUMAN	B9 protein domain 2						cilium assembly (GO:0042384)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)	gamma-tubulin binding (GO:0043015)			large_intestine(1)|ovary(1)	2						ggtagcagcagcggcagcagccg	0.724																																						ENST00000221930.5																			0				endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8	GRCh37	CM002115	TGFB1	M	rs1800470	c.(28-33)ctg>c		transforming growth factor, beta 1	Hyaluronidase(DB00070)			542,1784		148,246,769						1.5	1.0			4	965,3903		291,383,1760	no	coding	TGFB1	NM_000660.4		439,629,2529	A1A1,A1R,RR		19.8233,23.3018,20.948				1507,5687				SO:0001628	intergenic_variant	7040				active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding	g.chr19:41858919_41858921delGCG	BC004157	CCDS12579.1	19q13.2	2014-01-28				ENSG00000123810			28636	protein-coding gene	gene with protein product		611951				21763481	Standard	NM_030578		Approved	MGC4093, MKS10	uc002oqj.2	Q9BPU9			19.37:g.41858919_41858921delGCG						TMEM91_ENST00000539627.1_Intron	p.PL10del	NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN			1	895_897	-			10		L -> P (associated with higher bone mineral density and lower frequency of vertebral fractures in Japanese post- menopausal women; dbSNP:rs1800470).				In_Frame_Del	DEL	ENST00000243578.3	37	c.29_31delCGC	CCDS12579.1																																																																																				0.724	B9D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463489.1	NM_030578		2	4						2	4	---	---	---	---	-	41858921	GCG	-	41858919	6	5	453	0	1	1	0	1	0	0	0	0	15813	962	34	0		0	TGFB1	19	41858919	IGR	DEL	GCG	TCGA-H2-A3RI-01A-11D-A21Z-08	19856894	41858919	17270064	11	9220											
MEGF8	1954	broad.mit.edu	37	chr19	42848949	42848949	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggcctgcacttgctcacCtttcagcagccgcccaatac	7	18	2	0			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr19:42848949C>T	ENST00000251268.6	+	12	2061	c.2061C>T	c.(2059-2061)acC>acT	p.T687T	MEGF8_ENST00000334370.4_Silent_p.T687T	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	687					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)				ACTTGCTCACCTTTCAGCAGC	0.617																																						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.(2059-2061)acC>acT		multiple EGF-like-domains 8							71	70	71					19																	42848949		2203	4300	6503	SO:0001819	synonymous_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42848949C>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.2061C>T	19.37:g.42848949C>T						MEGF8_ENST00000251268.6_Silent_p.T687T	p.T687T	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			12	2696	+		Prostate(69;0.00682)	755					A8KAY0|O75097	Silent	SNP	ENST00000251268.6	37	c.2061C>T																																																																																					0.617	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		4	110	0	0	0	0.02938	0	4	110					T	42848949	C	T	42848949	2	4	453	1	0	0	0	0	0	0	0	1	9463	668	24	2		2	MEGF8	19	42848949	Silent	SNP	C	TCGA-H2-A3RI-01A-11D-A21Z-08	990030	42848949	16280034	12	9221											
SHANK3	85358	broad.mit.edu	37	chr22	51159933	51159933	+	Frame_Shift_Del	DEL	G	G	-													gggcaggagcccagcaggctGgggggggccgaagaggagcg							TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr22:51159933delG	ENST00000414786.2	+	21	3857	c.3630delG	c.(3628-3630)ctgfs	p.L1210fs	SHANK3_ENST00000445220.2_Frame_Shift_Del_p.L1226fs|SHANK3_ENST00000262795.3_Frame_Shift_Del_p.L1240fs			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	1224					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CCAGCAGGCTGGGGGGGGCCG	0.721																																						ENST00000414786.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8						c.(3628-3630)ctfs		SH3 and multiple ankyrin repeat domains 3				32,49,3135		5,1,21,6,36,1539	10	11	11			3.5	1.0	22		11	90,87,6825		3,0,84,5,77,3332	no	codingComplex	SHANK3	NM_001080420.1		8,1,105,11,113,4871	A1A1,A1A2,A1R,A2A2,A2R,RR		2.5278,2.5187,2.525			51159933	122,136,9960	1773	3829	5602	SO:0001589	frameshift_variant	85358							g.chr22:51159933delG	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14294	protein-coding gene	gene with protein product	"proline rich synapse associated protein 2", "shank postsynaptic density protein"	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.3630delG	22.37:g.51159933delG	ENSP00000464552:p.Leu1210fs					SHANK3_ENST00000445220.2_Frame_Shift_Del_p.L1226fs|SHANK3_ENST00000262795.3_Frame_Shift_Del_p.L1240fs	p.L1210fs			F2Z3L0	F2Z3L0_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.22)	21	3857	+		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	1240					D7UT47|Q8TET3	Frame_Shift_Del	DEL	ENST00000414786.2	37	c.3630delG																																																																																					0.721	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		2	4						2	4	---	---	---	---	-	51159933	G	-	51159933	7	5	453	1	0	1	0	1	0	0	0	0	14266	1335	47	0	3806	0	SHANK3	22	51159933	Frame_Shift_Del	DEL	G	TCGA-H2-A3RI-01A-11D-A21Z-08		51159933	144633	13	9222											
RYR2	6262	broad.mit.edu	37	chr1	237993860	237993860	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcatctgtgggataggcaatGattacttcgacacagtgcca	10	9	2	1			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr1:237993860G>A	ENST00000366574.2	+	103	15003	c.14686G>A	c.(14686-14688)Gat>Aat	p.D4896N	RYR2_ENST00000542537.1_Missense_Mutation_p.D4880N|RYR2_ENST00000360064.6_Missense_Mutation_p.D4902N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4896					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GATAGGCAATGATTACTTCGA	0.423																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(14686-14688)Gat>Aat		ryanodine receptor 2 (cardiac)							222	207	212					1																	237993860		1957	4158	6115	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237993860G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14686G>A	1.37:g.237993860G>A	ENSP00000355533:p.Asp4896Asn					RYR2_ENST00000360064.6_Missense_Mutation_p.D4902N|RYR2_ENST00000542537.1_Missense_Mutation_p.D4880N|RYR2_ENST00000462585.1_3'UTR	p.D4896N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		103	15003	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4896					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.14686G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	36	5.811127	0.96975	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96885	-4.16;-4.13;-4.16	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000005	D	0.96411	0.8829	L	0.55990	1.75	0.80722	D	1	D	0.56968	0.978	P	0.50825	0.651	D	0.96804	0.9591	10	0.87932	D	0	-18.4137	19.4432	0.94831	0.0:0.0:1.0:0.0	.	4896	Q92736	RYR2_HUMAN	N	4896;4902;4880	ENSP00000355533:D4896N;ENSP00000353174:D4902N;ENSP00000443798:D4880N	ENSP00000353174:D4902N	D	+	1	0	RYR2	236060483	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	9.809000	0.99208	2.578000	0.87016	0.655000	0.94253	GAT		0.423	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		18	176	0	0	0	1	0	18	176					A	237993860	G	A	237993860	3	1	454	1	0	0	0	0	1	0	0	0	13769	1290	45	2	15096	2	RYR2	1	237993860	Missense_Mutation	SNP	G	TCGA-H2-A421-01A-11D-A23M-08		237993860	11256761	1	9223											
PLA2R1	22925	broad.mit.edu	37	chr2	160798656	160798656	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acctttttctggcagcgcctCtgcagtgtgaatatctaaaa	8	10	3	1			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr2:160798656C>T	ENST00000283243.7	-	29	4365	c.4159G>A	c.(4159-4161)Gag>Aag	p.E1387K	PLA2R1_ENST00000460710.1_5'UTR	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1387					cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GGCAGCGCCTCTGCAGTGTGA	0.299																																						ENST00000283243.7																		PLA2R1/RBMS1(2)	0				central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(4159-4161)Gag>Aag		phospholipase A2 receptor 1, 180kDa							48	53	51					2																	160798656		2202	4300	6502	SO:0001583	missense	0				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160798656C>T	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"C-type lectin domain containing"	9042	protein-coding gene	gene with protein product		604939	"phospholipase A2 receptor 1, 180kD"			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.4159G>A	2.37:g.160798656C>T	ENSP00000283243:p.Glu1387Lys					PLA2R1_ENST00000460710.1_5'UTR	p.E1387K	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN			29	4365	-			1387					B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	c.4159G>A	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.463623	0.01062	.	.	ENSG00000153246	ENST00000283243	T	0.06218	3.33	5.89	3.49	0.39957	.	0.857935	0.10467	N	0.671256	T	0.03095	0.0091	N	0.08118	0	0.09310	N	0.999992	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46569	-0.9182	10	0.07030	T	0.85	.	7.3477	0.26672	0.0:0.0755:0.1562:0.7682	.	1385;1387	B7ZML4;Q13018	.;PLA2R_HUMAN	K	1387	ENSP00000283243:E1387K	ENSP00000283243:E1387K	E	-	1	0	PLA2R1	160506902	0.002000	0.14202	0.001000	0.08648	0.003000	0.03518	0.557000	0.23454	0.455000	0.26910	-0.302000	0.09304	GAG		0.299	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			7	65	0	0	0	1	0	7	65					T	160798656	C	T	160798656	3	4	454	1	0	0	0	0	1	0	0	0	12010	922	32	2	240	2	PLA2R1	2	160798656	Missense_Mutation	SNP	C	TCGA-H2-A421-01A-11D-A23M-08		160798656	82400717	2	9224											
LRIG1	26018	broad.mit.edu	37	chr3	66434551	66434551	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatgacatgcatgcgtcgCtcacgggcagcggggaaatc	15	11	1	1			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr3:66434551C>T	ENST00000273261.3	-	14	2459	c.1935G>A	c.(1933-1935)gaG>gaA	p.E645E	SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000383703.3_Intron|LRIG1_ENST00000496559.2_5'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	645	Ig-like C2-type 2.				innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GCATGCGTCGCTCACGGGCAG	0.567																																						ENST00000273261.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(1933-1935)gaG>gaA		leucine-rich repeats and immunoglobulin-like domains 1							130	117	122					3																	66434551		2203	4300	6503	SO:0001819	synonymous_variant	26018					integral to membrane		g.chr3:66434551C>T	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.1935G>A	3.37:g.66434551C>T						SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000383703.3_Intron	p.E645E	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	14	2459	-		Lung NSC(201;0.0101)	645			Ig-like C2-type 2.		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Silent	SNP	ENST00000273261.3	37	c.1935G>A	CCDS33783.1																																																																																				0.567	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		11	176	0	0	0	1	0	11	176					T	66434551	C	T	66434551	2	4	454	1	0	0	0	0	0	0	0	1	8944	796	28	2		2	LRIG1	3	66434551	Silent	SNP	C	TCGA-H2-A421-01A-11D-A23M-08		66434551	131587879	3	9225											
HPS3	84343	broad.mit.edu	37	chr3	148889914	148889914	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttgctgtggaactagaaCtgaaggatttcatgaatgtt	11	4	1	3			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr3:148889914C>T	ENST00000296051.2	+	17	3060	c.2920C>T	c.(2920-2922)Ctg>Ttg	p.L974L	HPS3_ENST00000460120.1_Silent_p.L809L	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	974					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GGAACTAGAACTGAAGGATTT	0.343									Hermansky-Pudlak syndrome																													ENST00000296051.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34						c.(2920-2922)Ctg>Ttg		Hermansky-Pudlak syndrome 3							113	109	110					3																	148889914		2202	4300	6502	SO:0001819	synonymous_variant	84343	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148889914C>T	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.2920C>T	3.37:g.148889914C>T						HPS3_ENST00000460120.1_Silent_p.L809L	p.L974L	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		17	3060	+			974					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Silent	SNP	ENST00000296051.2	37	c.2920C>T	CCDS3140.1																																																																																				0.343	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		20	51	0	0	0	1	0	20	51					T	148889914	C	T	148889914	2	4	454	1	0	0	0	0	0	0	0	1	7340	564	20	2		2	HPS3	3	148889914	Silent	SNP	C	TCGA-H2-A421-01A-11D-A23M-08	82455363	148889914	49132516	4	9226											
CNOT6L	246175	broad.mit.edu	37	chr4	78694313	78694313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacagattgttatttaaaaGcaattccctgttttaaaaaa	4	5	0	1			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr4:78694313G>A	ENST00000504123.1	-	4	452	c.322C>T	c.(322-324)Ctt>Ttt	p.L108F	CNOT6L_ENST00000506166.1_5'UTR|CNOT6L_ENST00000264903.4_Missense_Mutation_p.L108F			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	108	Required for interaction with CNOT1, CNOT3 and CNOT7.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|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)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						TTATTTAAAAGCAATTCCCTG	0.299																																						ENST00000504123.1																			0				kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						c.(322-324)Ctt>Ttt		CCR4-NOT transcription complex, subunit 6-like							38	35	36					4																	78694313		1783	4056	5839	SO:0001583	missense	246175				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	g.chr4:78694313G>A	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.322C>T	4.37:g.78694313G>A	ENSP00000424896:p.Leu108Phe					CNOT6L_ENST00000264903.4_Missense_Mutation_p.L108F|CNOT6L_ENST00000506166.1_5'UTR	p.L108F			Q96LI5	CNO6L_HUMAN			4	452	-			108					Q9UF92	Missense_Mutation	SNP	ENST00000504123.1	37	c.322C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.40|18.40	3.616446|3.616446	0.66672|0.66672	.|.	.|.	ENSG00000138767|ENSG00000138767	ENST00000515506|ENST00000504123;ENST00000264903;ENST00000512485;ENST00000515441	.|T;T;T;T	.|0.57436	.|0.4;0.4;0.4;2.27	4.78|4.78	3.92|3.92	0.45320|0.45320	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.51312|0.51312	0.1667|0.1667	L|L	0.31065|0.31065	0.9|0.9	0.80722|0.80722	D|D	1|1	.|P;P	.|0.45428	.|0.858;0.765	.|P;P	.|0.52598	.|0.703;0.616	T|T	0.38520|0.38520	-0.9657|-0.9657	5|10	.|0.20046	.|T	.|0.44	-17.323|-17.323	14.8787|14.8787	0.70516|0.70516	0.0:0.1445:0.8555:0.0|0.0:0.1445:0.8555:0.0	.|.	.|108;108	.|B4E2S0;Q96LI5	.|.;CNO6L_HUMAN	V|F	136|108;108;115;108	.|ENSP00000424896:L108F;ENSP00000264903:L108F;ENSP00000425571:L115F;ENSP00000426269:L108F	.|ENSP00000264903:L108F	A|L	-|-	2|1	0|0	CNOT6L|CNOT6L	78913337|78913337	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.717000|5.717000	0.68446|0.68446	0.967000|0.967000	0.38186|0.38186	0.555000|0.555000	0.69702|0.69702	GCT|CTT		0.299	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1			5	23	0	0	0	1	0	5	23					A	78694313	G	A	78694313	3	1	454	1	0	0	0	0	1	0	0	0	3623	971	34	2	1381	2	CNOT6L	4	78694313	Missense_Mutation	SNP	G	TCGA-H2-A421-01A-11D-A23M-08		78694313	112459963	5	9227											
THBS4	7060	broad.mit.edu	37	chr5	79354580	79354580	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgacacaattaaaccaactCctgggagaggtgaaggacct	10	9	0	3			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr5:79354580C>T	ENST00000350881.2	+	5	889	c.699C>T	c.(697-699)ctC>ctT	p.L233L	CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Silent_p.L142L	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	233					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TAAACCAACTCCTGGGAGAGG	0.483																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(697-699)ctC>ctT		thrombospondin 4							67	68	68					5																	79354580		2203	4300	6503	SO:0001819	synonymous_variant	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79354580C>T		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.699C>T	5.37:g.79354580C>T						CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Silent_p.L142L	p.L233L	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	5	889	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	233					B2R909|Q86TG2	Silent	SNP	ENST00000350881.2	37	c.699C>T	CCDS4049.1																																																																																				0.483	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			5	66	0	0	0	1	0	5	66					T	79354580	C	T	79354580	2	4	454	1	0	0	0	0	0	0	0	1	15853	842	30	2		2	THBS4	5	79354580	Silent	SNP	C	TCGA-H2-A421-01A-11D-A23M-08		79354580	101560680	6	9228											
HTR4	3360	broad.mit.edu	37	chr5	147863844	147863844	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaagacaggcttccttgcaGtcaaacatctaatgctcaat	6	12	3	1			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr5:147863844G>T	ENST00000377888.3	-	7	1215				HTR4_ENST00000517929.1_Intron|HTR4_ENST00000521735.1_Intron|HTR4_ENST00000362016.2_Intron|HTR4_ENST00000520514.1_Intron|HTR4_ENST00000354217.2_Intron|HTR4_ENST00000360693.3_Missense_Mutation_p.T392N|HTR4_ENST00000521530.1_Intron|HTR4_ENST00000314512.6_Intron	NM_000870.5	NP_000861.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled						G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	cttccttgcagtcaaacatcT	0.413																																					GBM(120;370 1604 14007 17804 41573)	ENST00000360693.3																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1174-1176)aCt>aAt		5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)						90	89	89					5																	147863844		2203	4300	6503	SO:0001627	intron_variant	3360				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity	g.chr5:147863844G>T	Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5299	protein-coding gene	gene with protein product		602164	"5-hydroxytryptamine (serotonin) receptor 4"			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000377888.3:c.1077-988C>A	5.37:g.147863844G>T						HTR4_ENST00000314512.6_Intron|HTR4_ENST00000521735.1_Intron|HTR4_ENST00000362016.2_Intron|HTR4_ENST00000517929.1_Intron|HTR4_ENST00000521530.1_Intron|HTR4_ENST00000354217.2_Intron|HTR4_ENST00000520514.1_Intron|HTR4_ENST00000377888.3_Intron	p.T392N	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	1313	-			359					C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Missense_Mutation	SNP	ENST00000377888.3	37	c.1175C>A	CCDS4291.1	.	.	.	.	.	.	.	.	.	.	G	6.459	0.452818	0.12283	.	.	ENSG00000164270	ENST00000360693	T	0.71341	-0.56	2.91	-1.81	0.07882	.	5.600410	0.00166	N	0.000011	T	0.53738	0.1815	.	.	.	0.09310	N	1	B	0.22604	0.072	B	0.19666	0.026	T	0.25710	-1.0124	9	0.30078	T	0.28	.	3.7885	0.08710	0.5509:0.21:0.2391:0.0	.	392	Q712M9	.	N	392	ENSP00000353915:T392N	ENSP00000353915:T392N	T	-	2	0	HTR4	147844037	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.133000	0.03232	-0.427000	0.07350	-0.142000	0.14014	ACT		0.413	HTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252187.2	NM_000870		11	38	1	0	3.86212e-05	1	3.97571e-05	11	38					T	147863844	G	T	147863844	1	4	454	0	1	0	0	0	0	0	0	0	7449	1029	36	4		4	HTR4	5	147863844	Intron	SNP	G	TCGA-H2-A421-01A-11D-A23M-08	68509264	147863844	33051416	7	9229											
FLT4	2324	broad.mit.edu	37	chr5	180048157	180048157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaccacacgatgctgggcgCgtgcgctccggccaccaagc	13	16	0	0			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr5:180048157C>T	ENST00000261937.6	-	14	2194	c.2116G>A	c.(2116-2118)Gcg>Acg	p.A706T	FLT4_ENST00000393347.3_Missense_Mutation_p.A706T|FLT4_ENST00000502649.1_Missense_Mutation_p.A706T|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	706	Ig-like C2-type 7.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATGCTGGGCGCGTGCGCTCCG	0.667																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2116-2118)Gcg>Acg		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						32	33	32					5																	180048157		2202	4296	6498	SO:0001583	missense	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180048157C>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.2116G>A	5.37:g.180048157C>T	ENSP00000261937:p.Ala706Thr					FLT4_ENST00000502649.1_Missense_Mutation_p.A706T|FLT4_ENST00000393347.3_Missense_Mutation_p.A706T|FLT4_ENST00000424276.2_5'UTR	p.A706T	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	14	2194	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	706			Ig-like C2-type 7.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.2116G>A	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	C	7.746	0.702414	0.15172	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.66099	-0.19;-0.19;-0.19	4.4	0.481	0.16809	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.28797	0.0714	N	0.10733	0.035	0.09310	N	1	P;B;B;B	0.41524	0.753;0.007;0.003;0.003	B;B;B;B	0.26770	0.073;0.021;0.008;0.008	T	0.15925	-1.0420	9	0.10377	T	0.69	.	8.5473	0.33429	0.0:0.5083:0.0:0.4917	.	706;516;706;706	P35916-3;E9PFB0;E9PD35;P35916	.;.;.;VGFR3_HUMAN	T	706;706;706;516	ENSP00000261937:A706T;ENSP00000377016:A706T;ENSP00000426057:A706T	ENSP00000261937:A706T	A	-	1	0	FLT4	179980763	0.001000	0.12720	0.199000	0.23439	0.917000	0.54804	0.104000	0.15313	0.093000	0.17368	0.462000	0.41574	GCG		0.667	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			7	80	0	0	0	1	0	7	80					T	180048157	C	T	180048157	3	4	454	1	0	0	0	0	1	0	0	0	5944	768	27	1	2051	1	FLT4	5	180048157	Missense_Mutation	SNP	C	TCGA-H2-A421-01A-11D-A23M-08	32184313	180048157	867103	8	9230											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		34	71	0	0	0	1	0	34	71					T	140453136	A	T	140453136	3	4	454	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-H2-A421-01A-11D-A23M-08		140453136	18685527	9	9231											
NSMAF	8439	broad.mit.edu	37	chr8	59511805	59511805	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acataccattatgggccccaActgcatcactccctttttgt	5	14	1	0			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr8:59511805A>C	ENST00000038176.3	-	19	1783	c.1571T>G	c.(1570-1572)gTt>gGt	p.V524G	NSMAF_ENST00000519858.1_5'Flank|NSMAF_ENST00000427130.2_Missense_Mutation_p.V555G	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	524	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				ATGGGCCCCAACTGCATCACT	0.338																																						ENST00000038176.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38						c.(1570-1572)gTt>gGt		neutral sphingomyelinase (N-SMase) activation associated factor							162	154	157					8																	59511805		2203	4300	6503	SO:0001583	missense	8439				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	g.chr8:59511805A>C	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"WD repeat domain containing"	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.1571T>G	8.37:g.59511805A>C	ENSP00000038176:p.Val524Gly					NSMAF_ENST00000427130.2_Missense_Mutation_p.V555G	p.V524G	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN			19	1783	-		all_lung(136;0.174)|Lung NSC(129;0.2)	524			BEACH.		B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	ENST00000038176.3	37	c.1571T>G	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	A	12.39	1.922480	0.33908	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	T;T	0.66638	-0.22;-0.22	6.17	6.17	0.99709	BEACH domain (4);	0.449133	0.24447	N	0.038454	D	0.84629	0.5514	M	0.94021	3.485	0.37183	D	0.9036	P;P	0.49862	0.929;0.758	P;P	0.57204	0.815;0.713	D	0.90197	0.4254	9	.	.	.	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	555;524	Q92636-2;Q92636	.;FAN_HUMAN	G	524;555	ENSP00000038176:V524G;ENSP00000411012:V555G	.	V	-	2	0	NSMAF	59674359	0.977000	0.34250	0.040000	0.18447	0.002000	0.02628	7.412000	0.80091	2.371000	0.80710	0.533000	0.62120	GTT		0.338	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580		24	192	0	0	0	1	0	24	192					C	59511805	A	C	59511805	3	2	454	1	0	0	0	0	1	0	0	0	10674	43	2	5	1234	5	NSMAF	8	59511805	Missense_Mutation	SNP	A	TCGA-H2-A421-01A-11D-A23M-08		59511805	86852217	10	9232											
RLN1	6013	broad.mit.edu	37	chr9	5339569	5339569	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggtgtctgaggagcatcttCctggctcagagaccttttgc	12	10	3	2			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr9:5339569C>T	ENST00000223862.1	-	1	304	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	RLN1_ENST00000223858.4_Missense_Mutation_p.E60K|RLN1_ENST00000487557.2_5'Flank	NM_006911.2	NP_008842.1	P04808	REL1_HUMAN	relaxin 1	60					female pregnancy (GO:0007565)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			large_intestine(1)|lung(4)	5	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984)		GGAGCATCTTCCTGGCTCAGA	0.587																																						ENST00000223858.4																			0				large_intestine(1)|lung(4)	5						c.(178-180)Gaa>Aaa		relaxin 1							19	21	21					9																	5339569		2198	4276	6474	SO:0001583	missense	6013				female pregnancy|signal transduction	extracellular region	hormone activity	g.chr9:5339569C>T		CCDS6462.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107018	ENSG00000107018		"Endogenous ligands"	10026	protein-coding gene	gene with protein product	"prorelaxin H1"	179730	"relaxin 1 (H1)"				Standard	NM_006911		Approved	H1	uc003zjb.2	P04808	OTTHUMG00000019495	ENST00000223862.1:c.178G>A	9.37:g.5339569C>T	ENSP00000223862:p.Glu60Lys					RLN1_ENST00000223862.1_Missense_Mutation_p.E60K	p.E60K			P04808	REL1_HUMAN		GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984)	1	304	-	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)	60					Q99936|Q9UQJ1	Missense_Mutation	SNP	ENST00000223862.1	37	c.178G>A	CCDS6462.1	.	.	.	.	.	.	.	.	.	.	c	14.33	2.503930	0.44558	.	.	ENSG00000107018	ENST00000223862;ENST00000223858	D;D	0.88509	-2.39;-2.39	2.84	-1.84	0.07809	Insulin-like (4);	3.906160	0.01890	N	0.038495	D	0.84741	0.5539	L	0.52364	1.645	0.09310	N	1	B	0.33883	0.43	B	0.34418	0.182	T	0.70626	-0.4820	10	0.66056	D	0.02	.	3.5152	0.07722	0.0:0.3645:0.2036:0.432	.	60	P04808	REL1_HUMAN	K	60	ENSP00000223862:E60K;ENSP00000223858:E60K	ENSP00000223858:E60K	E	-	1	0	RLN1	5329569	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.479000	0.02327	-0.409000	0.07553	-0.319000	0.08680	GAA		0.587	RLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051617.1			3	43	0	0	0	1	0	3	43					T	5339569	C	T	5339569	3	4	454	1	0	0	0	0	1	0	0	0	13391	864	30	2	387	2	RLN1	9	5339569	Missense_Mutation	SNP	C	TCGA-H2-A421-01A-11D-A23M-08		5339569	135873862	11	9233											
PCDH15	65217	broad.mit.edu	37	chr10	55587219	55587219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcggcggcggcgggggcGctgccactggtgcaggagcc	22	13	0	0	rs572629527		TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr10:55587219G>A	ENST00000320301.6	-	32	4695	c.4301C>T	c.(4300-4302)gCg>gTg	p.A1434V	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.A1363V|PCDH15_ENST00000395433.1_Missense_Mutation_p.A1409V|PCDH15_ENST00000395432.2_Missense_Mutation_p.A1394V|PCDH15_ENST00000395438.1_Missense_Mutation_p.A1434V|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.A1431V|PCDH15_ENST00000409834.1_Missense_Mutation_p.A1045V|PCDH15_ENST00000373965.2_Missense_Mutation_p.A1441V|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.A1441V|PCDH15_ENST00000414778.1_Missense_Mutation_p.A1436V|PCDH15_ENST00000361849.3_Missense_Mutation_p.A1434V|PCDH15_ENST00000463095.1_5'UTR	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1434					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				cggcgggggcgCTGCCACTGG	0.577										HNSCC(58;0.16)			G|||	1	0.000199681	8e-04	0	5008	,	,		10225	0		0	False		,,,				2504	0					ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4321-4323)gCg>gTg		protocadherin-related 15							41	49	46					10																	55587219		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55587219G>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4301C>T	10.37:g.55587219G>A	ENSP00000322604:p.Ala1434Val	HNSCC(58;0.16)				PCDH15_ENST00000320301.6_Missense_Mutation_p.A1434V|PCDH15_ENST00000437009.1_Missense_Mutation_p.A1363V|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000361849.3_Missense_Mutation_p.A1434V|PCDH15_ENST00000395432.2_Missense_Mutation_p.A1394V|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.A1409V|PCDH15_ENST00000414778.1_Missense_Mutation_p.A1436V|PCDH15_ENST00000409834.1_Missense_Mutation_p.A1045V|PCDH15_ENST00000395438.1_Missense_Mutation_p.A1434V|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.A1431V|PCDH15_ENST00000395445.1_Missense_Mutation_p.A1441V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron	p.A1441V	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			33	4716	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1434			Poly-Pro.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.4322C>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825745	0.32237	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.58060	2.95;2.95;2.95;2.95;2.95;2.95;2.95;2.95;2.95;2.95;0.36	5.42	1.44	0.22558	.	.	.	.	.	T	0.27629	0.0679	N	0.14661	0.345	0.09310	N	1	B;P;P;B;P;P;B;B;P;P;B;B;B	0.40794	0.448;0.708;0.708;0.448;0.454;0.708;0.448;0.103;0.729;0.552;0.103;0.127;0.308	B;B;B;B;B;B;B;B;B;B;B;B;B	0.33121	0.085;0.158;0.158;0.058;0.075;0.124;0.085;0.01;0.053;0.035;0.01;0.016;0.085	T	0.07849	-1.0751	9	0.37606	T	0.19	.	5.5011	0.16829	0.2275:0.1472:0.6253:0.0	.	1409;1434;1434;1439;1363;1394;1431;1434;1441;1441;1434;1436;1434	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	V	1441;1436;1434;1434;1045;1441;1394;1434;1409;1434;1431;1439;1363	ENSP00000363076:A1441V;ENSP00000410304:A1436V;ENSP00000378826:A1434V;ENSP00000386693:A1045V;ENSP00000378832:A1441V;ENSP00000378820:A1394V;ENSP00000354950:A1434V;ENSP00000378821:A1409V;ENSP00000322604:A1434V;ENSP00000378818:A1431V;ENSP00000412628:A1363V	ENSP00000322604:A1434V	A	-	2	0	PCDH15	55257225	0.000000	0.05858	0.000000	0.03702	0.569000	0.35902	0.291000	0.18994	0.069000	0.16605	0.591000	0.81541	GCG		0.577	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		20	130	0	0	0	1	0	20	130					A	55587219	G	A	55587219	3	1	454	1	0	0	0	0	1	0	0	0	11511	1087	38	1	3193	1	PCDH15	10	55587219	Missense_Mutation	SNP	G	TCGA-H2-A421-01A-11D-A23M-08		55587219	79947528	12	9234											
EIF3A	8661	broad.mit.edu	37	chr10	120797843	120797843	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctcctcccgatcttgattaTctctgtccctttctttttct	3	14	5	1			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr10:120797843T>A	ENST00000369144.3	-	20	3762	c.3635A>T	c.(3634-3636)gAt>gTt	p.D1212V	EIF3A_ENST00000541549.1_Missense_Mutation_p.D1178V	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		atcttgattatctctgtccct	0.488																																						ENST00000369144.3																			0				endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56						c.(3634-3636)gAt>gTt		eukaryotic translation initiation factor 3, subunit A							276	230	246					10																	120797843		2203	4300	6503	SO:0001583	missense	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120797843T>A	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.3635A>T	10.37:g.120797843T>A	ENSP00000358140:p.Asp1212Val					EIF3A_ENST00000478852.1_Intron|EIF3A_ENST00000541549.1_Missense_Mutation_p.D1178V	p.D1212V	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	20	3762	-		Lung NSC(174;0.094)|all_lung(145;0.123)	1212			Asp-rich.		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	c.3635A>T	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	T	9.383	1.073450	0.20147	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.29397	1.57;1.61	4.11	4.11	0.48088	.	0.180767	0.25628	U	0.029365	T	0.37517	0.1006	L	0.39898	1.24	0.58432	D	0.99999	D;B	0.61080	0.989;0.241	P;B	0.59487	0.858;0.151	T	0.04216	-1.0968	10	0.31617	T	0.26	-13.6853	9.8198	0.40876	0.0:0.0:0.0:1.0	.	1178;1212	F5H335;Q14152	.;EIF3A_HUMAN	V	1212;1178	ENSP00000358140:D1212V;ENSP00000438178:D1178V	ENSP00000358140:D1212V	D	-	2	0	EIF3A	120787833	0.998000	0.40836	0.851000	0.33527	0.804000	0.45430	4.447000	0.60020	2.090000	0.63153	0.459000	0.35465	GAT		0.488	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		8	179	0	0	0	1	0	8	179					A	120797843	T	A	120797843	3	1	454	1	0	0	0	0	1	0	0	0	5012	1435	50	5	525	5	EIF3A	10	120797843	Missense_Mutation	SNP	T	TCGA-H2-A421-01A-11D-A23M-08	65210624	120797843	14736904	13	9235											
RRM1	6240	broad.mit.edu	37	chr11	4148017	4148017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtcactaaagtcgttgtccGaaacttgaataaaattattg	7	6	1	1			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr11:4148017G>A	ENST00000300738.5	+	13	1628	c.1424G>A	c.(1423-1425)cGa>cAa	p.R475Q	RRM1_ENST00000534285.1_Missense_Mutation_p.R253Q|RRM1_ENST00000423050.2_Missense_Mutation_p.R378Q|RRM1_ENST00000537197.1_Missense_Mutation_p.R137Q	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	475					cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	GTCGTTGTCCGAAACTTGAAT	0.353																																					NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)	ENST00000300738.5																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14						c.(1423-1425)cGa>cAa		ribonucleotide reductase M1	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)						67	64	65					11																	4148017		2201	4298	6499	SO:0001583	missense	6240				deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity	g.chr11:4148017G>A	X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	"ribonucleotide reductase M1 polypeptide"			7557993	Standard	NM_001033		Approved		uc001lyw.4	P23921	OTTHUMG00000133361	ENST00000300738.5:c.1424G>A	11.37:g.4148017G>A	ENSP00000300738:p.Arg475Gln					RRM1_ENST00000537197.1_Missense_Mutation_p.R137Q|RRM1_ENST00000534285.1_Missense_Mutation_p.R253Q|RRM1_ENST00000423050.2_Missense_Mutation_p.R378Q	p.R475Q	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	13	1628	+		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)	475					Q9UNN2	Missense_Mutation	SNP	ENST00000300738.5	37	c.1424G>A	CCDS7750.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.695660	0.68386	.	.	ENSG00000167325	ENST00000300738;ENST00000423050;ENST00000536894;ENST00000534285;ENST00000543838;ENST00000537197	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.69	5.69	0.88448	Ribonucleoside-diphosphate reductase, alpha subunit (1);Ribonucleotide reductase large subunit, C-terminal (2);	0.118237	0.56097	D	0.000022	T	0.63534	0.2519	H	0.98426	4.23	0.58432	D	0.999999	P	0.44627	0.839	B	0.29077	0.098	T	0.80734	-0.1250	10	0.87932	D	0	-6.8736	18.7859	0.91954	0.0:0.0:1.0:0.0	.	475	P23921	RIR1_HUMAN	Q	475;378;388;253;253;137	ENSP00000300738:R475Q;ENSP00000390539:R378Q;ENSP00000431464:R253Q;ENSP00000442148:R137Q	ENSP00000300738:R475Q	R	+	2	0	RRM1	4104593	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.853000	0.48317	2.698000	0.92095	0.655000	0.94253	CGA		0.353	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257197.1	NM_001033		3	38	0	0	0	1	0	3	38					A	4148017	G	A	4148017	3	1	454	1	0	0	0	0	1	0	0	0	13681	1058	37	1	1474	1	RRM1	11	4148017	Missense_Mutation	SNP	G	TCGA-H2-A421-01A-11D-A23M-08		4148017	130858499	14	9236											
GPR152	390212	broad.mit.edu	37	chr11	67219491	67219491	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggtcctggccacacgggcGaagccccggcaggctgcggg	17	14	0	0	rs78290792		TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr11:67219491G>A	ENST00000312457.2	-	1	709	c.705C>T	c.(703-705)ttC>ttT	p.F235F	CABP4_ENST00000438189.2_5'Flank	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CCACACGGGCGAAGCCCCGGC	0.662																																					Pancreas(102;800 1581 2723 7382 33622)	ENST00000312457.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(703-705)ttC>ttT		G protein-coupled receptor 152							30	32	31					11																	67219491		2200	4295	6495	SO:0001819	synonymous_variant	390212					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:67219491G>A	AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514		"GPCR / Class A : Orphans"	23622	protein-coding gene	gene with protein product						12679517	Standard	NM_206997		Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.705C>T	11.37:g.67219491G>A							p.F235F	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		1	709	-			235					Q0VD88|Q86SM0	Silent	SNP	ENST00000312457.2	37	c.705C>T	CCDS8165.1																																																																																				0.662	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397623.1			5	48	0	0	0	1	0	5	48					A	67219491	G	A	67219491	2	1	454	1	0	0	0	0	0	0	0	1	6658	1049	37	1		1	GPR152	11	67219491	Silent	SNP	G	TCGA-H2-A421-01A-11D-A23M-08	63071474	67219491	67787025	15	9237											
C1R	715	broad.mit.edu	37	chr12	7188364	7188364	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atggggtgatttcctagcttCatgagctcttccacatttgt	9	9	2	2			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr12:7188364C>A	ENST00000542285.1	-	11	1583	c.1434G>T	c.(1432-1434)atG>atT	p.M478I				P00736	C1R_HUMAN	complement component 1, r subcomponent	530	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TTCCTAGCTTCATGAGCTCTT	0.567																																						ENST00000542285.1																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16						c.(1432-1434)atG>atT		complement component 1, r subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						123	131	128					12																	7188364		2198	4298	6496	SO:0001583	missense	715				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7188364C>A	M14058		12p13.31	2014-05-14			ENSG00000159403	ENSG00000159403	3.4.21.41	"Complement system"	1246	protein-coding gene	gene with protein product		613785					Standard	NM_001733		Approved		uc010sfy.2	P00736	OTTHUMG00000168149	ENST00000542285.1:c.1434G>T	12.37:g.7188364C>A	ENSP00000438615:p.Met478Ile						p.M478I			P00736	C1R_HUMAN			11	1583	-			530			Peptidase S1.		A6NJQ8|Q68D77|Q8J012	Missense_Mutation	SNP	ENST00000542285.1	37	c.1434G>T		.	.	.	.	.	.	.	.	.	.	C	2.966	-0.213475	0.06140	.	.	ENSG00000159403	ENST00000290575;ENST00000542285	D	0.88431	-2.38	5.44	-0.148	0.13424	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.278400	0.05190	N	0.502986	T	0.81805	0.4900	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.63866	-0.6540	9	0.35671	T	0.21	.	6.8157	0.23829	0.0:0.2486:0.4235:0.3279	.	530	P00736	C1R_HUMAN	I	493;478	ENSP00000438615:M478I	ENSP00000290575:M493I	M	-	3	0	C1R	7058619	0.000000	0.05858	0.002000	0.10522	0.027000	0.11550	-0.324000	0.07986	-0.360000	0.08138	-0.274000	0.10170	ATG		0.567	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001733		16	184	1	0	3.41278e-10	1	3.61962e-10	16	184					A	7188364	C	A	7188364	3	1	454	1	0	0	0	0	1	0	0	0	1972	826	29	4	531	4	C1R	12	7188364	Missense_Mutation	SNP	C	TCGA-H2-A421-01A-11D-A23M-08		7188364	126663531	16	9238											
ABCC9	10060	broad.mit.edu	37	chr12	21970200	21970200	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacccatctggacctccagGtcagccaagttcctcacaac	7	17	3	0			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr12:21970200G>A	ENST00000261201.4	-	31	3812	c.3813C>T	c.(3811-3813)gaC>gaT	p.D1271D	ABCC9_ENST00000345162.2_Silent_p.D1235D|ABCC9_ENST00000261200.4_Silent_p.D1271D	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1271	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	GGACCTCCAGGTCAGCCAAGT	0.368																																						ENST00000261200.4																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(3811-3813)gaC>gaT		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						127	130	129					12																	21970200		2203	4300	6503	SO:0001819	synonymous_variant	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21970200G>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3813C>T	12.37:g.21970200G>A						ABCC9_ENST00000345162.2_Silent_p.D1235D|ABCC9_ENST00000261201.4_Silent_p.D1271D	p.D1271D	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			31	3812	-			1271			ABC transmembrane type-1 2.		O60707	Silent	SNP	ENST00000261201.4	37	c.3813C>T	CCDS8694.1																																																																																				0.368	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		16	179	0	0	0	1	0	16	179					A	21970200	G	A	21970200	2	1	454	1	0	0	0	0	0	0	0	1	59	1252	44	2		2	ABCC9	12	21970200	Silent	SNP	G	TCGA-H2-A421-01A-11D-A23M-08	14781836	21970200	111881695	17	9239											
F10	2159	broad.mit.edu	37	chr13	113803380	113803380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccttccgcatgaacgtggCgcctgcctgcctccccgagc	10	19	0	1	rs201675411		TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr13:113803380C>T	ENST00000375559.3	+	8	1054	c.1016C>T	c.(1015-1017)gCg>gTg	p.A339V	F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	339	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	ATGAACGTGGCGCCTGCCTGC	0.637													C|||	1	0.000199681	8e-04	0	5008	,	,		15189	0		0	False		,,,				2504	0					ENST00000375559.3																			0				endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18						c.(1015-1017)gCg>gTg		coagulation factor X	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)						121	94	103					13																	113803380		2203	4300	6503	SO:0001583	missense	2159				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	g.chr13:113803380C>T		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.1016C>T	13.37:g.113803380C>T	ENSP00000364709:p.Ala339Val					F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR	p.A339V	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)		8	1054	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	339			Peptidase S1.		Q14340	Missense_Mutation	SNP	ENST00000375559.3	37	c.1016C>T	CCDS9530.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.062	-1.221331	0.01530	.	.	ENSG00000126218	ENST00000375559	D	0.89050	-2.46	5.25	3.41	0.39046	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.398760	0.25903	N	0.027551	T	0.66015	0.2747	N	0.10760	0.04	0.09310	N	1	P	0.37015	0.578	B	0.29598	0.104	T	0.64462	-0.6402	10	0.02654	T	1	.	3.4406	0.07462	0.0:0.4945:0.1999:0.3056	.	339	P00742	FA10_HUMAN	V	339	ENSP00000364709:A339V	ENSP00000364709:A339V	A	+	2	0	F10	112851381	0.226000	0.23696	0.813000	0.32504	0.000000	0.00434	3.712000	0.54875	1.215000	0.43411	-0.251000	0.11542	GCG		0.637	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3			47	118	0	0	0	1	0	47	118					T	113803380	C	T	113803380	3	4	454	1	0	0	0	0	1	0	0	0	5336	768	27	1	1046	1	F10	13	113803380	Missense_Mutation	SNP	C	TCGA-H2-A421-01A-11D-A23M-08		113803380	1366498	18	9240											
CLEC16A	23274	broad.mit.edu	37	chr16	11217709	11217709	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccatcctccaggccaccttCatcttctcagaccacatccg	4	20	3	1			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr16:11217709C>T	ENST00000409790.1	+	21	2609	c.2379C>T	c.(2377-2379)ttC>ttT	p.F793F	CLEC16A_ENST00000381822.2_5'Flank|CLEC16A_ENST00000409552.3_Silent_p.F775F|CLEC16A_ENST00000465491.1_3'UTR	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGGCCACCTTCATCTTCTCAG	0.602																																						ENST00000409790.1																			1	Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2377-2379)ttC>ttT		C-type lectin domain family 16, member A							62	68	66					16																	11217709		2118	4237	6355	SO:0001819	synonymous_variant	23274							g.chr16:11217709C>T	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"C-type lectin domain containing"	29013	protein-coding gene	gene with protein product		611303	"KIAA0350"	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.2379C>T	16.37:g.11217709C>T						CLEC16A_ENST00000409552.3_Silent_p.F775F|CLEC16A_ENST00000465491.1_3'UTR	p.F793F	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN			21	2609	+			793						Silent	SNP	ENST00000409790.1	37	c.2379C>T	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.424865	0.25639	.	.	ENSG00000038532	ENST00000428742	.	.	.	5.55	2.31	0.28768	.	.	.	.	.	T	0.53965	0.1829	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41752	-0.9491	4	.	.	.	-23.1287	6.2745	0.20973	0.0:0.3426:0.0:0.6574	.	.	.	.	L	37	.	.	S	+	2	0	CLEC16A	11125210	0.922000	0.31269	0.849000	0.33467	0.997000	0.91878	0.606000	0.24194	0.211000	0.20683	0.655000	0.94253	TCA		0.602	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		9	88	0	0	0	1	0	9	88					T	11217709	C	T	11217709	2	4	454	1	0	0	0	0	0	0	0	1	3500	825	29	2		2	CLEC16A	16	11217709	Silent	SNP	C	TCGA-H2-A421-01A-11D-A23M-08		11217709	79137044	19	9241											
DNAH9	1770	broad.mit.edu	37	chr17	11872643	11872643	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcattacagaggcaaagctGaaggatctgacaccccctat	8	11	2	3			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr17:11872643G>A	ENST00000262442.4	+	69	13328	c.13260G>A	c.(13258-13260)ctG>ctA	p.L4420L	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Silent_p.L4344L|DNAH9_ENST00000608377.1_Silent_p.L732L|RP11-1096G20.5_ENST00000580270.1_RNA	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4420					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGGCAAAGCTGAAGGATCTGA	0.512																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(13258-13260)ctG>ctA		dynein, axonemal, heavy chain 9							128	116	120					17																	11872643		2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11872643G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.13260G>A	17.37:g.11872643G>A						RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000396001.2_Silent_p.L732L|DNAH9_ENST00000454412.2_Silent_p.L4344L	p.L4420L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	69	13328	+		Breast(5;0.0122)|all_epithelial(5;0.131)	4420					A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.13260G>A	CCDS11160.1																																																																																				0.512	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		12	152	0	0	0	1	0	12	152					A	11872643	G	A	11872643	2	1	454	1	0	0	0	0	0	0	0	1	4608	1277	45	2		2	DNAH9	17	11872643	Silent	SNP	G	TCGA-H2-A421-01A-11D-A23M-08		11872643	69322567	20	9242											
MYO15A	51168	broad.mit.edu	37	chr17	18022676	18022676	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcggcctgggggccggctcCggaggttcccccgcagccgc	17	17	0	0			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr17:18022676C>T	ENST00000205890.5	+	2	900	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	188					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGGCCGGCTCCGGAGGTTCCC	0.711																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(562-564)Cgg>Tgg		myosin XVA							17	19	19					17																	18022676		1896	4104	6000	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18022676C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.562C>T	17.37:g.18022676C>T	ENSP00000205890:p.Arg188Trp						p.R188W	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	900	+	all_neural(463;0.228)		188			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.562C>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118454	0.37339	.	.	ENSG00000091536	ENST00000205890	D	0.90955	-2.76	5.34	4.31	0.51392	.	.	.	.	.	D	0.91452	0.7302	L	0.29908	0.895	0.24464	N	0.994425	D	0.89917	1.0	D	0.67548	0.952	D	0.84148	0.0421	9	0.87932	D	0	.	12.6023	0.56504	0.2451:0.7549:0.0:0.0	.	188	Q9UKN7	MYO15_HUMAN	W	188	ENSP00000205890:R188W	ENSP00000205890:R188W	R	+	1	2	MYO15A	17963401	0.754000	0.28360	0.990000	0.47175	0.081000	0.17604	1.562000	0.36353	2.481000	0.83766	0.555000	0.69702	CGG		0.711	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		25	44	0	0	0	1	0	25	44					T	18022676	C	T	18022676	3	4	454	1	0	0	0	0	1	0	0	0	10063	643	23	1	564	1	MYO15A	17	18022676	Missense_Mutation	SNP	C	TCGA-H2-A421-01A-11D-A23M-08	6150033	18022676	63172534	21	9243											
EXOC7	23265	broad.mit.edu	37	chr17	74084631	74084631	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcagcttgttctttgtgcTggcagccgtgccctgaggaa	14	10	1	1			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr17:74084631T>C	ENST00000335146.7	-	11	1419	c.1366A>G	c.(1366-1368)Agc>Ggc	p.S456G	EXOC7_ENST00000411744.2_Missense_Mutation_p.S397G|EXOC7_ENST00000467929.2_Missense_Mutation_p.S364G|EXOC7_ENST00000405575.4_Missense_Mutation_p.S428G|EXOC7_ENST00000589210.1_Missense_Mutation_p.S405G|EXOC7_ENST00000332065.5_Missense_Mutation_p.S374G|EXOC7_ENST00000607838.1_Missense_Mutation_p.S428G			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	456					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			TTCTTTGTGCTGGCAGCCGTG	0.597																																						ENST00000607838.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14						c.(1282-1284)Agc>Ggc		exocyst complex component 7							102	78	86					17																	74084631		2203	4300	6503	SO:0001583	missense	23265				exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding	g.chr17:74084631T>C	BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.1366A>G	17.37:g.74084631T>C	ENSP00000334100:p.Ser456Gly					EXOC7_ENST00000411744.2_Missense_Mutation_p.S397G|EXOC7_ENST00000405575.4_Missense_Mutation_p.S428G|EXOC7_ENST00000589210.1_Missense_Mutation_p.S405G|EXOC7_ENST00000335146.7_Missense_Mutation_p.S456G|EXOC7_ENST00000332065.5_Missense_Mutation_p.S374G|EXOC7_ENST00000467929.2_Missense_Mutation_p.S364G	p.S428G	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		11	1376	-			456					B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Missense_Mutation	SNP	ENST00000335146.7	37	c.1282A>G	CCDS45782.1	.	.	.	.	.	.	.	.	.	.	T	10.90	1.480329	0.26598	.	.	ENSG00000182473	ENST00000332065;ENST00000351709;ENST00000405575;ENST00000335146;ENST00000357231;ENST00000425372;ENST00000411744	.	.	.	5.41	3.15	0.36227	Cullin repeat-like-containing domain (1);	0.206931	0.64402	N	0.000017	T	0.24470	0.0593	N	0.03608	-0.345	0.80722	D	1	B;B;B;B;B;B;B	0.12013	0.004;0.002;0.0;0.002;0.002;0.005;0.001	B;B;B;B;B;B;B	0.14578	0.004;0.003;0.006;0.001;0.011;0.001;0.0	T	0.03139	-1.1068	9	0.34782	T	0.22	-17.5065	4.8471	0.13519	0.0:0.2365:0.1528:0.6107	.	397;428;364;364;456;374;405	Q9UPT5-5;Q9UPT5-6;B4DJ07;F5H1P1;Q9UPT5;Q9UPT5-2;Q9UPT5-1	.;.;.;.;EXOC7_HUMAN;.;.	G	374;294;428;456;405;364;397	.	ENSP00000333806:S374G	S	-	1	0	EXOC7	71596226	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	3.343000	0.52167	0.343000	0.23821	0.533000	0.62120	AGC		0.597	EXOC7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000319768.2	NM_015219		5	35	0	0	0	1	0	5	35					C	74084631	T	C	74084631	3	2	454	1	0	0	0	0	1	0	0	0	5310	1580	55	3	881	3	EXOC7	17	74084631	Missense_Mutation	SNP	T	TCGA-H2-A421-01A-11D-A23M-08	56061955	74084631	7110579	22	9244											
LAMA3	3909	broad.mit.edu	37	chr18	21501533	21501533	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attatctgggaggaattccaAttgcaatcagggaaaggtaa	11	5	2	0	rs377376620		TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr18:21501533A>G	ENST00000313654.9	+	62	8402	c.8161A>G	c.(8161-8163)Att>Gtt	p.I2721V	LAMA3_ENST00000399516.3_Missense_Mutation_p.I2665V|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.I1056V|LAMA3_ENST00000269217.6_Missense_Mutation_p.I1112V	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2721	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					AGGAATTCCAATTGCAATCAG	0.333																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(8161-8163)Att>Gtt		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	G	VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	121	126	125		3334,7993,3166,8161	2.0	0.9	18		125	0,8600		0,0,4300	no	missense,missense,missense,missense	LAMA3	NM_000227.3,NM_001127717.1,NM_001127718.1,NM_198129.1	29,29,29,29	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	1112/1725,2665/3278,1056/1669,2721/3334	21501533	1,13005	2203	4300	6503	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21501533A>G	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.8161A>G	18.37:g.21501533A>G	ENSP00000324532:p.Ile2721Val					LAMA3_ENST00000587184.1_Missense_Mutation_p.I1056V|LAMA3_ENST00000399516.3_Missense_Mutation_p.I2665V|LAMA3_ENST00000269217.6_Missense_Mutation_p.I1112V|LAMA3_ENST00000588770.1_3'UTR	p.I2721V	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			62	8402	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2721			Laminin G-like 2.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.8161A>G	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	a	11.53	1.664806	0.29604	2.27E-4	0.0	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.77489	-1.1;-1.1;-1.1	5.77	1.96	0.26148	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.71762	0.3378	M	0.68317	2.08	0.09310	N	0.999998	B;P;B;P	0.35527	0.316;0.497;0.367;0.507	B;B;B;B	0.40101	0.235;0.319;0.253;0.238	T	0.59731	-0.7399	9	0.30078	T	0.28	.	1.1169	0.01716	0.492:0.1276:0.1351:0.2452	.	1056;1112;2665;2721	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	V	2721;2665;1112	ENSP00000324532:I2721V;ENSP00000382432:I2665V;ENSP00000269217:I1112V	ENSP00000269217:I1112V	I	+	1	0	LAMA3	19755531	1.000000	0.71417	0.866000	0.34008	0.996000	0.88848	1.180000	0.32005	0.094000	0.17404	-0.253000	0.11424	ATT		0.333	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		9	121	0	0	0	1	0	9	121					G	21501533	A	G	21501533	3	3	454	1	0	0	0	0	1	0	0	0	8607	101	4	3	8582	3	LAMA3	18	21501533	Missense_Mutation	SNP	A	TCGA-H2-A421-01A-11D-A23M-08		21501533	56575715	23	9245											
TTC9B	148014	broad.mit.edu	37	chr19	40722102	40722102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcccgagtctgggacccagCcccactgtcttcccgctgga	10	17	2	0			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr19:40722102C>T	ENST00000311308.6	-	3	705	c.688G>A	c.(688-690)Gct>Act	p.A230T		NM_152479.5	NP_689692.2	Q8N6N2	TTC9B_HUMAN	tetratricopeptide repeat domain 9B	230					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						TGGGACCCAGCCCCACTGTCT	0.602																																						ENST00000311308.6																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						c.(688-690)Gct>Act		tetratricopeptide repeat domain 9B							124	98	107					19																	40722102		2203	4300	6503	SO:0001583	missense	148014						binding	g.chr19:40722102C>T	BC029539	CCDS12550.1	19q13.2	2013-01-11				ENSG00000174521		"Tetratricopeptide (TTC) repeat domain containing"	26395	protein-coding gene	gene with protein product							Standard	NM_152479		Approved	FLJ30373	uc002onc.3	Q8N6N2		ENST00000311308.6:c.688G>A	19.37:g.40722102C>T	ENSP00000311760:p.Ala230Thr						p.A230T	NM_152479.5	NP_689692.2	Q8N6N2	TTC9B_HUMAN			3	705	-			230					A8K0I5|Q96NP9	Missense_Mutation	SNP	ENST00000311308.6	37	c.688G>A	CCDS12550.1	.	.	.	.	.	.	.	.	.	.	c	13.00	2.105736	0.37145	.	.	ENSG00000174521	ENST00000311308	T	0.31510	1.49	4.23	2.03	0.26663	.	0.887861	0.09257	U	0.827109	T	0.17619	0.0423	N	0.22421	0.69	0.20196	N	0.999924	B	0.02656	0.0	B	0.01281	0.0	T	0.32640	-0.9899	10	0.12430	T	0.62	-0.1245	6.3868	0.21566	0.0:0.7513:0.0:0.2487	.	230	Q8N6N2	TTC9B_HUMAN	T	230	ENSP00000311760:A230T	ENSP00000311760:A230T	A	-	1	0	TTC9B	45413942	0.002000	0.14202	0.429000	0.26710	0.268000	0.26511	0.130000	0.15850	0.746000	0.32786	0.556000	0.70494	GCT		0.602	TTC9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462604.1	NM_152479		10	148	0	0	0	1	0	10	148					T	40722102	C	T	40722102	3	4	454	1	0	0	0	0	1	0	0	0	16713	739	26	2	35	2	TTC9B	19	40722102	Missense_Mutation	SNP	C	TCGA-H2-A421-01A-11D-A23M-08		40722102	18406881	24	9246											
MYBL2	4605	broad.mit.edu	37	chr20	42331451	42331451	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggctctgtcccctgtcactGagaatagcaccagtctgtcc	9	14	3	1			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr20:42331451G>A	ENST00000217026.4	+	8	1400	c.1273G>A	c.(1273-1275)Gag>Aag	p.E425K	MYBL2_ENST00000396863.4_Missense_Mutation_p.E401K	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	425					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCCTGTCACTGAGAATAGCAC	0.612																																						ENST00000217026.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46						c.(1273-1275)Gag>Aag		v-myb avian myeloblastosis viral oncogene homolog-like 2							125	99	108					20																	42331451		2203	4300	6503	SO:0001583	missense	4605					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:42331451G>A		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.1273G>A	20.37:g.42331451G>A	ENSP00000217026:p.Glu425Lys					MYBL2_ENST00000396863.4_Missense_Mutation_p.E401K	p.E425K	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		8	1400	+		Myeloproliferative disorder(115;0.00452)	425					B2RBS5|B7Z8D9|F8W6N6|Q53F07	Missense_Mutation	SNP	ENST00000217026.4	37	c.1273G>A	CCDS13322.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.649671	0.67358	.	.	ENSG00000101057	ENST00000396863;ENST00000217026	T;T	0.15017	2.46;2.48	4.99	4.99	0.66335	.	0.180342	0.47093	D	0.000247	T	0.24005	0.0581	N	0.19112	0.55	0.45076	D	0.998099	D;D	0.76494	0.96;0.999	P;D	0.63793	0.737;0.918	T	0.04976	-1.0914	10	0.15952	T	0.53	-38.7282	17.4343	0.87547	0.0:0.0:1.0:0.0	.	401;425	F8W6N6;P10244	.;MYBB_HUMAN	K	401;425	ENSP00000380072:E401K;ENSP00000217026:E425K	ENSP00000217026:E425K	E	+	1	0	MYBL2	41764865	1.000000	0.71417	0.963000	0.40424	0.737000	0.42083	6.492000	0.73654	2.488000	0.83962	0.462000	0.41574	GAG		0.612	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		13	98	0	0	0	1	0	13	98					A	42331451	G	A	42331451	3	1	454	1	0	0	0	0	1	0	0	0	10010	1291	45	2	1303	2	MYBL2	20	42331451	Missense_Mutation	SNP	G	TCGA-H2-A421-01A-11D-A23M-08		42331451	20694069	25	9247											
PLTP	5360	broad.mit.edu	37	chr20	44539816	44539816	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgttgtagtagaagtggcCttctttgccccgcaggtccg	13	10	1	1	rs139898818		TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr20:44539816C>A	ENST00000477313.1	-	2	769	c.175G>T	c.(175-177)Ggc>Tgc	p.G59C	PLTP_ENST00000542937.1_Missense_Mutation_p.G79C|PLTP_ENST00000420868.2_Missense_Mutation_p.G59C|PLTP_ENST00000372420.1_5'Flank|PLTP_ENST00000372431.3_Missense_Mutation_p.G59C|PLTP_ENST00000354050.4_Missense_Mutation_p.G59C			P55058	PLTP_HUMAN	phospholipid transfer protein	59					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|sperm motility (GO:0030317)|vitamin E biosynthetic process (GO:0010189)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				TAGAAGTGGCCTTCTTTGCCC	0.617																																						ENST00000542937.1																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21						c.(235-237)Ggc>Tgc		phospholipid transfer protein							88	90	89					20																	44539816		2203	4300	6503	SO:0001583	missense	5360				cellular lipid metabolic process|lipid transport	extracellular region	lipid binding	g.chr20:44539816C>A	L26232	CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1	20q13.12	2011-08-16			ENSG00000100979	ENSG00000100979		"BPI fold containing"	9093	protein-coding gene	gene with protein product	"BPI fold containing family E"	172425					Standard	NM_006227		Approved	BPIFE	uc002xqn.2	P55058	OTTHUMG00000033047	ENST00000477313.1:c.175G>T	20.37:g.44539816C>A	ENSP00000417138:p.Gly59Cys					PLTP_ENST00000420868.2_Missense_Mutation_p.G59C|PLTP_ENST00000477313.1_Missense_Mutation_p.G59C|PLTP_ENST00000354050.4_Missense_Mutation_p.G59C|PLTP_ENST00000372431.3_Missense_Mutation_p.G59C	p.G79C			P55058	PLTP_HUMAN			2	769	-		Myeloproliferative disorder(115;0.0122)	59					A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Missense_Mutation	SNP	ENST00000477313.1	37	c.235G>T	CCDS13386.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.356569	0.82243	.	.	ENSG00000100979	ENST00000372431;ENST00000354050;ENST00000477313;ENST00000542937;ENST00000420868	T;T;T;T;T	0.08720	3.06;3.06;3.06;3.06;3.06	5.2	4.24	0.50183	Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.049033	0.85682	D	0.000000	T	0.30510	0.0767	M	0.79123	2.44	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	0.994;0.994;1.0;1.0;1.0;1.0	P;P;D;D;D;D	0.85130	0.804;0.804;0.996;0.993;0.996;0.997	T	0.14117	-1.0484	10	0.87932	D	0	-9.823	15.8394	0.78835	0.0:0.8639:0.1361:0.0	.	59;59;59;59;59;79	E7EV16;B4DRB4;Q53H91;P55058-2;P55058;B3KUE5	.;.;.;.;PLTP_HUMAN;.	C	59;59;59;79;59	ENSP00000361508:G59C;ENSP00000335290:G59C;ENSP00000417138:G59C;ENSP00000440296:G79C;ENSP00000411671:G59C	ENSP00000335290:G59C	G	-	1	0	PLTP	43973223	1.000000	0.71417	0.588000	0.28705	0.984000	0.73092	6.763000	0.74955	1.397000	0.46682	0.563000	0.77884	GGC		0.617	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354633.1	NM_006227		15	158	1	0	7.07596e-05	1	7.07596e-05	15	158					A	44539816	C	A	44539816	3	1	454	1	0	0	0	0	1	0	0	0	12114	681	24	4	1362	4	PLTP	20	44539816	Missense_Mutation	SNP	C	TCGA-H2-A421-01A-11D-A23M-08	2208365	44539816	18485704	26	9248											
MAGEC1	9947	broad.mit.edu	37	chrX	140996442	140996442	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagtcattaagaggaaagtAgtagagtttttggccatgct	12	4	1	2			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chrX:140996442A>G	ENST00000285879.4	+	4	3538	c.3252A>G	c.(3250-3252)gtA>gtG	p.V1084V	MAGEC1_ENST00000406005.2_Silent_p.V151V	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1084	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGAAAGTAGTAGAGTTTT	0.458										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(3250-3252)gtA>gtG		melanoma antigen family C, 1							148	138	141					X																	140996442		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140996442A>G	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.3252A>G	X.37:g.140996442A>G		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Silent_p.V151V	p.V1084V	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	3538	+	Acute lymphoblastic leukemia(192;6.56e-05)		1084			MAGE.		A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.3252A>G	CCDS35417.1																																																																																				0.458	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		100	233	0	0	0	1	0	100	233					G	140996442	A	G	140996442	2	3	454	1	0	0	0	0	0	0	0	1	9180	407	15	3		3	MAGEC1	23	140996442	Silent	SNP	A	TCGA-H2-A421-01A-11D-A23M-08		140996442	14274118	27	9249											
PLEKHN1	84069	broad.mit.edu	37	chr1	907763	907764	+	Frame_Shift_Ins	INS	-	-	C													tgtcacccacagggagggggINSccccgccgctgcctggtgcc							TCGA-H2-A422-01A-11D-A23M-08	TCGA-H2-A422-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a09c40e3-3da4-4a6f-bc1b-886d6a6c6396	d8ec6736-9410-40cc-9570-5514962644ef	g.chr1:907763_907764insC	ENST00000379409.2	+	9	1147_1148	c.1117_1118insC	c.(1117-1119)gccfs	p.A373fs	PLEKHN1_ENST00000379410.3_Frame_Shift_Ins_p.A321fs|PLEKHN1_ENST00000379407.3_Frame_Shift_Ins_p.A333fs			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	373										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CAGGGAGGGGGCCCCGCCGCTG	0.678																																						ENST00000379409.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9						c.(1117-1119)cccfs		pleckstrin homology domain containing, family N member 1																																				SO:0001589	frameshift_variant	84069							g.chr1:907763_907764insC	AL136730	CCDS4.1, CCDS53256.1	1p36.33	2013-01-11			ENSG00000187583	ENSG00000187583		"Pleckstrin homology (PH) domain containing"	25284	protein-coding gene	gene with protein product						11230166	Standard	NM_032129		Approved	DKFZP434H2010	uc001acd.3	Q494U1	OTTHUMG00000040756	ENST00000379409.2:c.1121dupC	1.37:g.907767_907767dupC	ENSP00000368719:p.Ala373fs					PLEKHN1_ENST00000379410.3_Frame_Shift_Ins_p.P321fs|PLEKHN1_ENST00000379407.2_Frame_Shift_Ins_p.P333fs	p.P373fs			Q494U1	PKHN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	9	1147_1148	+	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)	373					Q494U2|Q5SV98|Q9H0M7	Frame_Shift_Ins	INS	ENST00000379409.2	37	c.1117_1118insC																																																																																					0.678	PLEKHN1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000473256.1	NM_032129		6	11						6	11	---	---	---	---	C	907764	-	C	907763	7	5	455	1	0	1	1	0	0	0	0	0	12083	1203	42	0	1035	0	PLEKHN1	1	907763	Frame_Shift_Ins	INS	-	TCGA-H2-A422-01A-11D-A23M-08		907763	248342858	1	9250											
SLC8A1	6546	broad.mit.edu	37	chr2	40657388	40657388	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaatcccattgaaaaggtGggtgaaagacttaatcgccg	11	7	0	4			TCGA-H2-A422-01A-11D-A23M-08	TCGA-H2-A422-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a09c40e3-3da4-4a6f-bc1b-886d6a6c6396	d8ec6736-9410-40cc-9570-5514962644ef	g.chr2:40657388G>A	ENST00000403092.1	-	2	66	c.33C>T	c.(31-33)ccC>ccT	p.P11P	SLC8A1_ENST00000405269.1_Silent_p.P11P|SLC8A1_ENST00000406785.2_Silent_p.P11P|SLC8A1_ENST00000408028.2_Silent_p.P11P|SLC8A1_ENST00000405901.3_Silent_p.P11P|SLC8A1_ENST00000542756.1_Silent_p.P11P|SLC8A1_ENST00000402441.1_Silent_p.P11P|SLC8A1_ENST00000542024.1_Silent_p.P11P|SLC8A1_ENST00000332839.4_Silent_p.P11P|SLC8A1_ENST00000406391.2_Silent_p.P11P			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	11					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TTGAAAAGGTGGGTGAAAGAC	0.413																																						ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(31-33)ccC>ccT		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						80	76	77					2																	40657388		2203	4300	6503	SO:0001819	synonymous_variant	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40657388G>A		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.33C>T	2.37:g.40657388G>A						SLC8A1_ENST00000405901.3_Silent_p.P11P|SLC8A1_ENST00000405269.1_Silent_p.P11P|SLC8A1_ENST00000542756.1_Silent_p.P11P|SLC8A1_ENST00000542024.1_Silent_p.P11P|SLC8A1_ENST00000408028.2_Silent_p.P11P|SLC8A1_ENST00000406391.2_Silent_p.P11P|SLC8A1_ENST00000403092.1_Silent_p.P11P|SLC8A1_ENST00000402441.1_Silent_p.P11P|SLC8A1_ENST00000332839.4_Silent_p.P11P	p.P11P			P32418	NAC1_HUMAN			2	222	-			11					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Silent	SNP	ENST00000403092.1	37	c.33C>T	CCDS1806.1																																																																																				0.413	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		34	62	0	0	0	1	0	34	62					A	40657388	G	A	40657388	2	1	455	1	0	0	0	0	0	0	0	1	14706	1335	47	2		2	SLC8A1	2	40657388	Silent	SNP	G	TCGA-H2-A422-01A-11D-A23M-08		40657388	202541985	2	9251											
SNED1	25992	broad.mit.edu	37	chr2	242011113	242011116	+	Frame_Shift_Del	DEL	GAGA	GAGA	-													tcaatgaccacagcgcccccGagacccccacccagcccccc							TCGA-H2-A422-01A-11D-A23M-08	TCGA-H2-A422-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a09c40e3-3da4-4a6f-bc1b-886d6a6c6396	d8ec6736-9410-40cc-9570-5514962644ef	g.chr2:242011113_242011116delGAGA	ENST00000310397.8	+	25	3712_3715	c.3712_3715delGAGA	c.(3712-3717)gagaccfs	p.ET1238fs	SNED1_ENST00000401884.1_Frame_Shift_Del_p.ET1238fs|SNED1_ENST00000405547.3_Frame_Shift_Del_p.ET1238fs|SNED1_ENST00000342631.6_Frame_Shift_Del_p.ET1238fs|MTERFD2_ENST00000464344.2_5'Flank	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	1238					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)		CAGCGCCCCCGAGACCCCCACCCA	0.716																																						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.(3712-3717)ccfs		sushi, nidogen and EGF-like domains 1																																				SO:0001589	frameshift_variant	25992				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr2:242011113_242011116delGAGA	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.3712_3715delGAGA	2.37:g.242011113_242011116delGAGA	ENSP00000308893:p.Glu1238fs					SNED1_ENST00000401884.1_Frame_Shift_Del_p.ET1238fs|SNED1_ENST00000405547.3_Frame_Shift_Del_p.ET1238fs|SNED1_ENST00000342631.6_Frame_Shift_Del_p.ET1238fs	p.ET1238fs	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)	25	3712_3715	+		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)	1238					B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Frame_Shift_Del	DEL	ENST00000310397.8	37	c.3712_3715delGAGA	CCDS46562.1																																																																																				0.716	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482		2	4						2	4	---	---	---	---	-	242011116	GAGA	-	242011113	7	5	455	1	0	1	0	1	0	0	0	0	14845	1059	37	0	3810	0	SNED1	2	242011113	Frame_Shift_Del	DEL	GAGA	TCGA-H2-A422-01A-11D-A23M-08	201353725	242011113	1188260	3	9252											
CAMP	820	broad.mit.edu	37	chr3	48266103	48266103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctttccagctggtgaagcGgtgtatggggacagtgaccc	14	10	0	2	rs375338469		TCGA-H2-A422-01A-11D-A23M-08	TCGA-H2-A422-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a09c40e3-3da4-4a6f-bc1b-886d6a6c6396	d8ec6736-9410-40cc-9570-5514962644ef	g.chr3:48266103G>A	ENST00000576243.1	+	3	460	c.320G>A	c.(319-321)cGg>cAg	p.R107Q	CAMP_ENST00000296435.2_Missense_Mutation_p.R110Q			P49913	CAMP_HUMAN	cathelicidin antimicrobial peptide	107					antibacterial humoral response (GO:0019731)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptidoglycan (GO:0071224)|cellular response to tumor necrosis factor (GO:0071356)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|killing by host of symbiont cells (GO:0051873)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of growth of symbiont on or near host surface (GO:0044140)|phagosome maturation (GO:0090382)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	cell projection (GO:0042995)|cell wall (GO:0005618)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|specific granule (GO:0042581)				endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000614)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CTGGTGAAGCGGTGTATGGGG	0.567																																						ENST00000296435.2																			0				endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(328-330)cGg>cAg		cathelicidin antimicrobial peptide		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	144	135	138		320	-6.1	0.0	3		138	0,8600		0,0,4300	no	missense	CAMP	NM_004345.4	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	107/171	48266103	1,13005	2203	4300	6503	SO:0001583	missense	820				killing by host of symbiont cells|negative regulation of growth of symbiont on or near host surface	extracellular region		g.chr3:48266103G>A	BC055089	CCDS2762.1, CCDS2762.2	3p21.3	2014-01-30			ENSG00000164047	ENSG00000164047		"Endogenous ligands"	1472	protein-coding gene	gene with protein product		600474				7624374	Standard	NM_004345		Approved	CAP18, FALL39, FALL-39, LL37	uc003csj.3	P49913	OTTHUMG00000133526	ENST00000576243.1:c.320G>A	3.37:g.48266103G>A	ENSP00000458149:p.Arg107Gln					CAMP_ENST00000576243.1_Missense_Mutation_p.R107Q	p.R110Q	NM_004345.4	NP_004336.3	P49913	CAMP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000614)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	3	485	+			107					Q71SN9	Missense_Mutation	SNP	ENST00000576243.1	37	c.329G>A		.	.	.	.	.	.	.	.	.	.	G	2.258	-0.369857	0.05069	2.27E-4	0.0	ENSG00000164047	ENST00000296435	.	.	.	5.49	-6.14	0.02111	.	1.302650	0.04982	N	0.465755	T	0.11067	0.0270	N	0.02334	-0.595	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.36359	-0.9751	9	0.02654	T	1	-12.3855	7.7195	0.28723	0.3798:0.0:0.5027:0.1176	.	107	P49913	CAMP_HUMAN	Q	107	.	ENSP00000296435:R107Q	R	+	2	0	CAMP	48241107	0.000000	0.05858	0.003000	0.11579	0.754000	0.42855	-1.300000	0.02751	-0.947000	0.03673	-0.291000	0.09656	CGG		0.567	CAMP-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_004345		40	132	0	0	0	1	0	40	132					A	48266103	G	A	48266103	3	1	455	1	0	0	0	0	1	0	0	0	2610	1116	39	1	330	1	CAMP	3	48266103	Missense_Mutation	SNP	G	TCGA-H2-A422-01A-11D-A23M-08		48266103	149756327	4	9253											
QRICH1	54870	broad.mit.edu	37	chr3	49094314	49094316	+	In_Frame_Del	DEL	TGC	TGC	-													ctgaacaagtaacttggagtTgctgctgctgctgctgtggt							TCGA-H2-A422-01A-11D-A23M-08	TCGA-H2-A422-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a09c40e3-3da4-4a6f-bc1b-886d6a6c6396	d8ec6736-9410-40cc-9570-5514962644ef	g.chr3:49094314_49094316delTGC	ENST00000395443.2	-	3	1789_1791	c.1317_1319delGCA	c.(1315-1320)cagcaa>caa	p.439_440QQ>Q	QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000424300.1_In_Frame_Del_p.439_440QQ>Q|QRICH1_ENST00000357496.2_In_Frame_Del_p.439_440QQ>Q	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	439	Gln-rich.					nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AACTTGGAgttgctgctgctgct	0.562																																						ENST00000395443.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(1315-1320)caa>ca		glutamine-rich 1																																				SO:0001651	inframe_deletion	54870							g.chr3:49094314_49094316delTGC		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1317_1319delGCA	3.37:g.49094323_49094325delTGC	ENSP00000378830:p.Gln440del					QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_In_Frame_Del_p.QQ439del|QRICH1_ENST00000424300.1_In_Frame_Del_p.QQ439del	p.QQ439del	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	1789_1791	-			439			Gln-rich.		Q4G0F7|Q7L621|Q8TEA5	In_Frame_Del	DEL	ENST00000395443.2	37	c.1317_1319delGCA	CCDS2787.1																																																																																				0.562	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		7	135						7	135	---	---	---	---	-	49094316	TGC	-	49094314	7	5	455	1	0	1	0	1	0	0	0	0	12879	1812	63	0	1043	0	QRICH1	3	49094314	In_Frame_Del	DEL	TGC	TCGA-H2-A422-01A-11D-A23M-08	828211	49094314	148928116	5	9254											
MFI2	4241	broad.mit.edu	37	chr3	196733535	196733536	+	Frame_Shift_Ins	INS	-	-	G													aaactgggacacctcggctcINSgggccccgttggggcacagc							TCGA-H2-A422-01A-11D-A23M-08	TCGA-H2-A422-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a09c40e3-3da4-4a6f-bc1b-886d6a6c6396	d8ec6736-9410-40cc-9570-5514962644ef	g.chr3:196733535_196733536insG	ENST00000296350.5	-	14	1935_1936	c.1822_1823insC	c.(1822-1824)cgafs	p.R608fs	MFI2-AS1_ENST00000437064.1_RNA|MFI2-AS1_ENST00000415244.1_RNA|MFI2-AS1_ENST00000414354.1_RNA|MFI2-AS1_ENST00000446695.1_RNA|MFI2-AS1_ENST00000424769.1_RNA	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	608	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)	p.R608*(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CACCTCGGCTCGGGCCCCGTTG	0.624																																						ENST00000296350.5																			1	Substitution - Nonsense(1)	p.R608*(1)	lung(1)	breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20						c.(1822-1824)agcfs		antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5																																				SO:0001589	frameshift_variant	4241				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding	g.chr3:196733535_196733536insG		CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"CD molecules"	7037	protein-coding gene	gene with protein product	"melanotransferrin", "membrane-bound transferrin-like protein"	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.1823dupC	3.37:g.196733538_196733538dupG	ENSP00000296350:p.Arg608fs						p.S608fs	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)	14	1935_1936	-	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		608			Transferrin-like 2.		Q9BQE2	Frame_Shift_Ins	INS	ENST00000296350.5	37	c.1822_1823insC	CCDS3325.1																																																																																				0.624	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1			8	77						8	77	---	---	---	---	G	196733536	-	G	196733535	7	5	455	1	0	1	1	0	0	0	0	0	9522	884	31	0	405	0	MFI2	3	196733535	Frame_Shift_Ins	INS	-	TCGA-H2-A422-01A-11D-A23M-08	147639221	196733535	1288895	6	9255											
CLOCK	9575	broad.mit.edu	37	chr4	56304530	56304532	+	In_Frame_Del	DEL	CTG	CTG	-													agctgctgctcctgggagctCtgctgctgctgctgctgcgt							TCGA-H2-A422-01A-11D-A23M-08	TCGA-H2-A422-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a09c40e3-3da4-4a6f-bc1b-886d6a6c6396	d8ec6736-9410-40cc-9570-5514962644ef	g.chr4:56304530_56304532delCTG	ENST00000309964.4	-	21	2528_2530	c.2278_2280delCAG	c.(2278-2280)cagdel	p.Q760del	CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	760	Gln-rich.|Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|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 (GO:0000982)|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)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			cctgggagctctgctgctgctgc	0.512																																						ENST00000309964.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(2278-2280)del		clock circadian regulator																																				SO:0001651	inframe_deletion	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56304530_56304532delCTG	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	2082	protein-coding gene	gene with protein product		601851	"clock (mouse) homolog", "clock homolog (mouse)"			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.2278_2280delCAG	4.37:g.56304539_56304541delCTG	ENSP00000308741:p.Gln760del					CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del	p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		21	2528_2530	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		760			Gln-rich.		A0AV01|A2I2N9|O14516|Q9UIT8	In_Frame_Del	DEL	ENST00000309964.4	37	c.2278_2280delCAG	CCDS3500.1																																																																																				0.512	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		8	82						8	82	---	---	---	---	-	56304532	CTG	-	56304530	7	5	455	1	0	1	0	1	0	0	0	0	3549	912	32	0	268	0	CLOCK	4	56304530	In_Frame_Del	DEL	CTG	TCGA-H2-A422-01A-11D-A23M-08		56304530	134849746	7	9256											
SLC7A11	23657	broad.mit.edu	37	chr4	139100480	139100480	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccctgtactaaatgggtcCgaatagagggaaagggcaac	12	8	0	1			TCGA-H2-A422-01A-11D-A23M-08	TCGA-H2-A422-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a09c40e3-3da4-4a6f-bc1b-886d6a6c6396	d8ec6736-9410-40cc-9570-5514962644ef	g.chr4:139100480C>T	ENST00000280612.5	-	11	1614	c.1335G>A	c.(1333-1335)tcG>tcA	p.S445S	SLC7A11-AS1_ENST00000510767.1_RNA	NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	445					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|brain development (GO:0007420)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|lens fiber cell differentiation (GO:0070306)|leukocyte migration (GO:0050900)|platelet aggregation (GO:0070527)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	cystine:glutamate antiporter activity (GO:0015327)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				Acetylcysteine(DB06151)|L-Cystine(DB00138)|Riluzole(DB00740)|Rosuvastatin(DB01098)|Sulfasalazine(DB00795)|Tauroursodeoxycholic acid(DB08834)	TAAATGGGTCCGAATAGAGGG	0.448																																						ENST00000280612.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18						c.(1333-1335)tcG>tcA		solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)						91	86	88					4																	139100480		2203	4300	6503	SO:0001819	synonymous_variant	23657				blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding	g.chr4:139100480C>T	AB026891	CCDS3742.1	4q28-q32	2013-05-22	2011-07-12		ENSG00000151012	ENSG00000151012		"Solute carriers"	11059	protein-coding gene	gene with protein product		607933				10206947, 12763038	Standard	XM_005262875		Approved	xCT	uc021xrw.1	Q9UPY5	OTTHUMG00000133396	ENST00000280612.5:c.1335G>A	4.37:g.139100480C>T							p.S445S	NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN			11	1614	-	all_hematologic(180;0.166)		445					A8K2U4	Silent	SNP	ENST00000280612.5	37	c.1335G>A	CCDS3742.1																																																																																				0.448	SLC7A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257251.2			5	93	0	0	0	1	0	5	93					T	139100480	C	T	139100480	2	4	455	1	0	0	0	0	0	0	0	1	14694	639	23	1		1	SLC7A11	4	139100480	Silent	SNP	C	TCGA-H2-A422-01A-11D-A23M-08	82795950	139100480	52053796	8	9257											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-H2-A422-01A-11D-A23M-08	TCGA-H2-A422-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a09c40e3-3da4-4a6f-bc1b-886d6a6c6396	d8ec6736-9410-40cc-9570-5514962644ef	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		41	58	0	0	0	1	0	41	58					T	140453136	A	T	140453136	3	4	455	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-H2-A422-01A-11D-A23M-08		140453136	18685527	9	9258											
FAM131B	9715	broad.mit.edu	37	chr7	143053998	143053998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagataggatcctgtggccGgagaggcaatgagggactga	16	7	0	4	rs558108883		TCGA-H2-A422-01A-11D-A23M-08	TCGA-H2-A422-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a09c40e3-3da4-4a6f-bc1b-886d6a6c6396	d8ec6736-9410-40cc-9570-5514962644ef	g.chr7:143053998G>A	ENST00000409408.1	-	6	2352	c.644C>T	c.(643-645)cCg>cTg	p.P215L	FAM131B_ENST00000409578.1_Missense_Mutation_p.P231L|FAM131B_ENST00000409346.1_Missense_Mutation_p.P215L|FAM131B_ENST00000409222.3_Missense_Mutation_p.P215L|FAM131B_ENST00000443739.2_Missense_Mutation_p.P243L			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	215										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					TCCTGTGGCCGGAGAGGCAAT	0.557																																						ENST00000409408.1																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						c.(643-645)cCg>cTg		family with sequence similarity 131, member B							69	66	67					7																	143053998		2203	4300	6503	SO:0001583	missense	9715							g.chr7:143053998G>A	BC045611	CCDS5882.1, CCDS47734.1	7q34	2007-03-20			ENSG00000159784	ENSG00000159784			22202	protein-coding gene	gene with protein product							Standard	NM_014690		Approved	KIAA0773	uc010lpa.3	Q86XD5	OTTHUMG00000152697	ENST00000409408.1:c.644C>T	7.37:g.143053998G>A	ENSP00000387017:p.Pro215Leu					FAM131B_ENST00000409346.1_Missense_Mutation_p.P215L|FAM131B_ENST00000443739.2_Missense_Mutation_p.P243L|FAM131B_ENST00000409578.1_Missense_Mutation_p.P231L|FAM131B_ENST00000409222.3_Missense_Mutation_p.P215L	p.P215L			Q86XD5	F131B_HUMAN			6	2352	-	Melanoma(164;0.205)		215					A4D2H6|A6NDW3|A8K605|B8ZZN2|D3DXE3|J3KQX2|Q7L0D6|Q86T97	Missense_Mutation	SNP	ENST00000409408.1	37	c.644C>T	CCDS5882.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.925951	0.92319	.	.	ENSG00000159784	ENST00000443739;ENST00000409578;ENST00000409346;ENST00000452076;ENST00000409408;ENST00000409222	T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.48095	0.1481	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.46569	-0.9182	10	0.87932	D	0	-16.0709	19.3138	0.94204	0.0:0.0:1.0:0.0	.	231;215	Q86XD5-2;Q86XD5	.;F131B_HUMAN	L	243;231;215;219;215;215	ENSP00000410603:P243L;ENSP00000386568:P231L;ENSP00000386984:P215L;ENSP00000387017:P215L;ENSP00000387147:P215L	ENSP00000387147:P215L	P	-	2	0	FAM131B	142764120	1.000000	0.71417	0.955000	0.39395	0.872000	0.50106	7.498000	0.81546	2.561000	0.86390	0.655000	0.94253	CCG		0.557	FAM131B-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328057.1	NM_014690		52	47	0	0	0	1	0	52	47					A	143053998	G	A	143053998	3	1	455	1	0	0	0	0	1	0	0	0	5440	1116	39	1	358	1	FAM131B	7	143053998	Missense_Mutation	SNP	G	TCGA-H2-A422-01A-11D-A23M-08	2600862	143053998	16084665	10	9259											
PLAG1	5324	broad.mit.edu	37	chr8	57079869	57079869	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaggtgaggtcaccacttgTtgcggcatgcaaggccaagt	13	10	1	1	rs138489179	byFrequency	TCGA-H2-A422-01A-11D-A23M-08	TCGA-H2-A422-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a09c40e3-3da4-4a6f-bc1b-886d6a6c6396	d8ec6736-9410-40cc-9570-5514962644ef	g.chr8:57079869T>C	ENST00000316981.3	-	5	915	c.436A>G	c.(436-438)Aca>Gca	p.T146A	PLAG1_ENST00000429357.2_Missense_Mutation_p.T146A|PLAG1_ENST00000423799.2_Missense_Mutation_p.T64A	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	146	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			TCACCACTTGTTGCGGCATGC	0.468			T	"TCEA1, LIFR, CTNNB1, CHCHD7"	salivary adenoma																																	ENST00000316981.3				Dom	yes		8	8q12	5324	T	pleiomorphic adenoma gene 1			E	"TCEA1, LIFR, CTNNB1, CHCHD7"		salivary adenoma	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(436-438)Aca>Gca		pleiomorphic adenoma gene 1		T	ALA/THR,ALA/THR,ALA/THR	0,4406		0,0,2203	124	93	104		436,190,436	5.6	0.2	8	dbSNP_134	104	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense	PLAG1	NM_001114634.1,NM_001114635.1,NM_002655.2	58,58,58	0,3,6500	CC,CT,TT		0.0349,0.0,0.0231	benign,benign,benign	146/501,64/419,146/501	57079869	3,13003	2203	4300	6503	SO:0001583	missense	5324					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:57079869T>C	U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"Zinc fingers, C2H2-type"	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.436A>G	8.37:g.57079869T>C	ENSP00000325546:p.Thr146Ala					PLAG1_ENST00000429357.2_Missense_Mutation_p.T146A|PLAG1_ENST00000423799.2_Missense_Mutation_p.T64A	p.T146A	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	Epithelial(17;0.00179)|all cancers(17;0.0125)		5	915	-		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	146			Decreased nuclear import with localization in the nucleus but also in the cytoplasm.		B4DLC2|Q59GH8|Q9Y4L2	Missense_Mutation	SNP	ENST00000316981.3	37	c.436A>G	CCDS6165.1	.	.	.	.	.	.	.	.	.	.	T	10.24	1.294851	0.23564	0.0	3.49E-4	ENSG00000181690	ENST00000316981;ENST00000423799;ENST00000429357	T;T;T	0.11930	2.73;3.46;2.73	5.55	5.55	0.83447	Zinc finger, C2H2 (1);	0.147081	0.64402	D	0.000011	T	0.09686	0.0238	N	0.11756	0.17	0.44188	D	0.997	B	0.15930	0.015	B	0.12156	0.007	T	0.16394	-1.0404	10	0.39692	T	0.17	-14.9733	15.6915	0.77457	0.0:0.0:0.0:1.0	.	146	Q6DJT9	PLAG1_HUMAN	A	146;64;146	ENSP00000325546:T146A;ENSP00000404067:T64A;ENSP00000416537:T146A	ENSP00000325546:T146A	T	-	1	0	PLAG1	57242423	1.000000	0.71417	0.198000	0.23420	0.923000	0.55619	4.968000	0.63728	2.097000	0.63578	0.477000	0.44152	ACA		0.468	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378212.1	NM_002655		24	26	0	0	0	1	0	24	26					C	57079869	T	C	57079869	3	2	455	1	0	0	0	0	1	0	0	0	12018	1725	60	3	1070	3	PLAG1	8	57079869	Missense_Mutation	SNP	T	TCGA-H2-A422-01A-11D-A23M-08		57079869	89284153	11	9260											
RUSC2	9853	broad.mit.edu	37	chr9	35555308	35555309	+	Frame_Shift_Ins	INS	-	-	G													accgcaggcatccactccccINSgagccactggcagaggtgcc							TCGA-H2-A422-01A-11D-A23M-08	TCGA-H2-A422-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a09c40e3-3da4-4a6f-bc1b-886d6a6c6396	d8ec6736-9410-40cc-9570-5514962644ef	g.chr9:35555308_35555309insG	ENST00000455600.1	+	3	2835_2836	c.2266_2267insG	c.(2266-2268)cgafs	p.R756fs		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	756						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			ATCCACTCCCCGAGCCACTGGC	0.663																																						ENST00000455600.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2266-2268)agcfs		RUN and SH3 domain containing 2																																				SO:0001589	frameshift_variant	9853					cytosol		g.chr9:35555308_35555309insG	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.2267dupG	9.37:g.35555309_35555309dupG	ENSP00000393922:p.Arg756fs						p.S756fs	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		3	2835_2836	+			756					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Frame_Shift_Ins	INS	ENST00000455600.1	37	c.2266_2267insG	CCDS35008.1																																																																																				0.663	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		7	160						7	160	---	---	---	---	G	35555309	-	G	35555308	7	5	455	1	0	1	1	0	0	0	0	0	13751	644	23	0	2272	0	RUSC2	9	35555308	Frame_Shift_Ins	INS	-	TCGA-H2-A422-01A-11D-A23M-08		35555308	105658123	12	9261											
KLC2	64837	broad.mit.edu	37	chr11	66032653	66032653	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctccaggataagcgccgggaCagcgccccctatggggaata	13	13	0	0			TCGA-H2-A422-01A-11D-A23M-08	TCGA-H2-A422-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a09c40e3-3da4-4a6f-bc1b-886d6a6c6396	d8ec6736-9410-40cc-9570-5514962644ef	g.chr11:66032653C>G	ENST00000417856.1	+	11	1524	c.1281C>G	c.(1279-1281)gaC>gaG	p.D427E	KLC2_ENST00000394066.2_Missense_Mutation_p.D350E|KLC2_ENST00000394078.1_Intron|KLC2_ENST00000394067.2_Missense_Mutation_p.D427E|KLC2_ENST00000421552.1_Missense_Mutation_p.D350E|RP11-867G23.2_ENST00000533287.1_RNA|KLC2_ENST00000394065.2_Missense_Mutation_p.D288E|KLC2_ENST00000316924.5_Missense_Mutation_p.D427E|RP11-867G23.1_ENST00000530805.1_RNA	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	427					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						AGCGCCGGGACAGCGCCCCCT	0.657											OREG0021098	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394065.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						c.(862-864)gaC>gaG		kinesin light chain 2							55	64	61					11																	66032653		2200	4295	6495	SO:0001583	missense	64837				blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr11:66032653C>G	AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"Tetratricopeptide (TTC) repeat domain containing"	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.1281C>G	11.37:g.66032653C>G	ENSP00000399403:p.Asp427Glu		OREG0021098	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1088	KLC2_ENST00000417856.1_Missense_Mutation_p.D427E|KLC2_ENST00000316924.5_Missense_Mutation_p.D427E|KLC2_ENST00000394067.2_Missense_Mutation_p.D427E|RP11-867G23.1_ENST00000530805.1_RNA|KLC2_ENST00000421552.1_Missense_Mutation_p.D350E|KLC2_ENST00000394078.1_Intron|KLC2_ENST00000394066.2_Missense_Mutation_p.D350E	p.D288E			Q9H0B6	KLC2_HUMAN			9	1882	+			427					A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Missense_Mutation	SNP	ENST00000417856.1	37	c.864C>G	CCDS8130.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.824124	0.50739	.	.	ENSG00000174996	ENST00000417856;ENST00000394067;ENST00000316924;ENST00000421552;ENST00000394066;ENST00000394065	T;T;T;T;T;D	0.83673	-1.08;-1.08;-1.08;-1.11;-1.11;-1.75	4.37	0.322	0.15888	.	0.000000	0.85682	D	0.000000	T	0.64427	0.2597	L	0.28608	0.87	0.43555	D	0.995862	B;B;B	0.26120	0.142;0.061;0.0	B;B;B	0.17098	0.017;0.012;0.005	T	0.55464	-0.8137	10	0.02654	T	1	-34.6234	8.0755	0.30714	0.0:0.5554:0.0:0.4446	.	288;350;427	A8MZ87;A8MXL7;Q9H0B6	.;.;KLC2_HUMAN	E	427;427;427;350;350;288	ENSP00000399403:D427E;ENSP00000377631:D427E;ENSP00000314837:D427E;ENSP00000408484:D350E;ENSP00000377630:D350E;ENSP00000377629:D288E	ENSP00000314837:D427E	D	+	3	2	KLC2	65789229	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	1.082000	0.30803	0.141000	0.18875	0.561000	0.74099	GAC		0.657	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258200.1	NM_022822		6	117	0	0	0	1	0	6	117					G	66032653	C	G	66032653	3	3	455	1	0	0	0	0	1	0	0	0	8334	477	17	4	1319	4	KLC2	11	66032653	Missense_Mutation	SNP	C	TCGA-H2-A422-01A-11D-A23M-08		66032653	68973863	13	9262											
FOLR3	2352	broad.mit.edu	37	chr11	71847120	71847120	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatgtctgcatgaacgccaAgcaccacaagacacagccca	7	15	1	2			TCGA-H2-A422-01A-11D-A23M-08	TCGA-H2-A422-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a09c40e3-3da4-4a6f-bc1b-886d6a6c6396	d8ec6736-9410-40cc-9570-5514962644ef	g.chr11:71847120A>G	ENST00000445078.2	+	2	187	c.116A>G	c.(115-117)aAg>aGg	p.K39R	FOLR3_ENST00000456237.1_Missense_Mutation_p.K41R|FOLR3_ENST00000442948.2_Missense_Mutation_p.K41R			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	39					folic acid transport (GO:0015884)	extracellular region (GO:0005576)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	folic acid binding (GO:0005542)			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	ATGAACGCCAAGCACCACAAG	0.632																																						ENST00000445078.2																			0				large_intestine(3)|lung(8)|prostate(2)	13						c.(115-117)aAg>aGg		folate receptor 3 (gamma)	Folic Acid(DB00158)						107	109	108					11																	71847120		2200	4293	6493	SO:0001583	missense	2352				folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity	g.chr11:71847120A>G	U08471	CCDS73344.1	11q13.4	2012-11-14			ENSG00000110203	ENSG00000110203			3795	protein-coding gene	gene with protein product		602469				8110752	Standard	NM_000804		Approved	FR-G	uc001orx.1	P41439	OTTHUMG00000167870	ENST00000445078.2:c.116A>G	11.37:g.71847120A>G	ENSP00000390338:p.Lys39Arg					FOLR3_ENST00000442948.2_Missense_Mutation_p.K41R|FOLR3_ENST00000456237.1_Missense_Mutation_p.K41R	p.K39R			P41439	FOLR3_HUMAN			2	187	+			39					J3KQ90|Q05C14	Missense_Mutation	SNP	ENST00000445078.2	37	c.116A>G		.	.	.	.	.	.	.	.	.	.	N	12.04	1.818847	0.32145	.	.	ENSG00000110203	ENST00000445078;ENST00000456237;ENST00000442948;ENST00000546166	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	3.8	3.8	0.43715	Folate receptor-like (1);	0.000000	0.64402	U	0.000002	T	0.79003	0.4373	.	.	.	0.51012	D	0.999902	D;P	0.89917	1.0;0.529	D;B	0.79108	0.992;0.443	T	0.79429	-0.1807	9	0.48119	T	0.1	.	11.3673	0.49679	1.0:0.0:0.0:0.0	.	41;39	E9PGT2;P41439	.;FOLR3_HUMAN	R	39;41;41;39	ENSP00000390338:K39R;ENSP00000399235:K41R;ENSP00000411161:K41R;ENSP00000446279:K39R	ENSP00000325032:K39R	K	+	2	0	FOLR3	71524768	1.000000	0.71417	0.933000	0.37362	0.116000	0.19942	7.883000	0.87264	1.353000	0.45828	0.402000	0.26972	AAG		0.632	FOLR3-001	NOVEL	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000396739.1	NM_000804		92	152	0	0	0	1	0	92	152					G	71847120	A	G	71847120	3	3	455	1	0	0	0	0	1	0	0	0	5983	72	3	3	124	3	FOLR3	11	71847120	Missense_Mutation	SNP	A	TCGA-H2-A422-01A-11D-A23M-08	5814467	71847120	63159396	14	9263											
CACNA1C	775	broad.mit.edu	37	chr12	2613619	2613619	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatgcaggacgctatgggCtatgagttaccctgggtgta	14	8	0	2			TCGA-H2-A422-01A-11D-A23M-08	TCGA-H2-A422-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a09c40e3-3da4-4a6f-bc1b-886d6a6c6396	d8ec6736-9410-40cc-9570-5514962644ef	g.chr12:2613619C>T	ENST00000399617.1	+	8	1131	c.1131C>T	c.(1129-1131)ggC>ggT	p.G377G	CACNA1C_ENST00000399603.1_Silent_p.G377G|CACNA1C_ENST00000347598.4_Intron|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000406454.3_Silent_p.G377G|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000399634.1_Silent_p.G377G|CACNA1C_ENST00000399641.1_Silent_p.G377G	NM_001167624.1	NP_001161096.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	377					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ACGCTATGGGCTATGAGTTAC	0.478																																						ENST00000399634.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(1129-1131)ggC>ggT		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						300	250	265					12																	2613619		1568	3582	5150	SO:0001819	synonymous_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2613619C>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000399617.1:c.1131C>T	12.37:g.2613619C>T						CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399603.1_Silent_p.G377G|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399641.1_Silent_p.G377G|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399617.1_Silent_p.G377G|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000406454.3_Silent_p.G377G|CACNA1C_ENST00000347598.4_Intron	p.G377G	NM_001167625.1	NP_001161097.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	8	1131	+			377					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000399617.1	37	c.1131C>T	CCDS53733.1																																																																																				0.478	CACNA1C-013	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317031.1	NM_000719		60	96	0	0	0	1	0	60	96					T	2613619	C	T	2613619	2	4	455	1	0	0	0	0	0	0	0	1	2540	784	28	2		2	CACNA1C	12	2613619	Silent	SNP	C	TCGA-H2-A422-01A-11D-A23M-08		2613619	131238276	15	9264											
SLC5A8	160728	broad.mit.edu	37	chr12	101560430	101560430	+	Frame_Shift_Del	DEL	A	A	-													tatatttgagctccaattccAacccatagagaaatggcaaa							TCGA-H2-A422-01A-11D-A23M-08	TCGA-H2-A422-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a09c40e3-3da4-4a6f-bc1b-886d6a6c6396	d8ec6736-9410-40cc-9570-5514962644ef	g.chr12:101560430delA	ENST00000536262.2	-	12	1926	c.1368delT	c.(1366-1368)gttfs	p.V456fs		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTCCAATTCCAACCCATAGAG	0.393																																					GBM(60;420 1056 13605 22380 47675)	ENST00000536262.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1366-1368)gtfs		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8							92	82	86					12																	101560430		2203	4300	6503	SO:0001589	frameshift_variant	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101560430delA	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"Solute carriers"	19119	protein-coding gene	gene with protein product		608044	"solute carrier family 5 (iodide transporter), member 8"			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.1368delT	12.37:g.101560430delA	ENSP00000445340:p.Val456fs						p.V456fs	NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN			12	1926	-			456						Frame_Shift_Del	DEL	ENST00000536262.2	37	c.1368delT	CCDS9080.1																																																																																				0.393	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		25	32						25	32	---	---	---	---	-	101560430	A	-	101560430	7	5	455	1	0	1	0	1	0	0	0	0	14671	117	5	0	480	0	SLC5A8	12	101560430	Frame_Shift_Del	DEL	A	TCGA-H2-A422-01A-11D-A23M-08	98946811	101560430	32291465	16	9265											
NAT15	79903	broad.mit.edu	37	chr16	3526257	3526257	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtggtgccatccagcgcgctCagcgaggtcagcctgcgcct	14	15	2	0			TCGA-H2-A422-01A-11D-A23M-08	TCGA-H2-A422-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a09c40e3-3da4-4a6f-bc1b-886d6a6c6396	d8ec6736-9410-40cc-9570-5514962644ef	g.chr16:3526257C>T	ENST00000407558.4	+	3	333	c.30C>T	c.(28-30)ctC>ctT	p.L10L	NAA60_ENST00000572584.1_Silent_p.L10L|NAA60_ENST00000570551.1_Intron|NAA60_ENST00000575076.1_Silent_p.L10L|NAA60_ENST00000608993.1_Intron|NAA60_ENST00000421765.3_Silent_p.L10L|NAA60_ENST00000573580.1_Intron|NAA60_ENST00000570819.1_Silent_p.L10L|NAA60_ENST00000608722.1_Silent_p.L10L|NAA60_ENST00000610180.1_Silent_p.L10L|NAA60_ENST00000576916.1_Silent_p.L10L|LA16c-306E5.3_ENST00000574423.2_RNA|NAA60_ENST00000414063.2_Silent_p.L10L|NAA60_ENST00000360862.5_Intron|NAA60_ENST00000572942.1_Silent_p.L10L|NAA60_ENST00000424546.2_Intron|NAA60_ENST00000577013.1_Silent_p.L10L			Q9H7X0	NAA60_HUMAN	N(alpha)-acetyltransferase 60, NatF catalytic subunit	10					cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|histone H4 acetylation (GO:0043967)|N-terminal peptidyl-methionine acetylation (GO:0017196)|nucleosome assembly (GO:0006334)	Golgi membrane (GO:0000139)	H4 histone acetyltransferase activity (GO:0010485)|peptide alpha-N-acetyltransferase activity (GO:0004596)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						CCAGCGCGCTCAGCGAGGTCA	0.607																																						ENST00000407558.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						c.(28-30)ctC>ctT		N(alpha)-acetyltransferase 60, NatF catalytic subunit							56	60	59					16																	3526257		2196	4294	6490	SO:0001819	synonymous_variant	79903						N-acetyltransferase activity	g.chr16:3526257C>T		CCDS45396.1	16p13.3	2012-07-13	2011-08-02	2011-08-02	ENSG00000122390	ENSG00000122390	2.3.1.48, 2.3.1.88	"N(alpha)-acetyltransferase subunits"	25875	protein-coding gene	gene with protein product		614246	"N-acetyltransferase 15 (GCN5-related, putative)"	NAT15		12975309, 21750686	Standard	NM_001083600		Approved	FLJ14154	uc010btm.3	Q9H7X0	OTTHUMG00000150268	ENST00000407558.4:c.30C>T	16.37:g.3526257C>T						NAA60_ENST00000424546.2_Intron|NAA60_ENST00000573580.1_Intron|NAA60_ENST00000570819.1_Silent_p.L10L|NAA60_ENST00000421765.3_Silent_p.L10L|LA16c-306E5.2_ENST00000575785.1_RNA|NAA60_ENST00000577013.1_Silent_p.L10L|NAA60_ENST00000414063.2_Silent_p.L10L|NAA60_ENST00000572584.1_Silent_p.L10L|NAA60_ENST00000575076.1_Silent_p.L10L|NAA60_ENST00000572942.1_Silent_p.L10L|NAA60_ENST00000360862.5_Intron|NAA60_ENST00000570551.1_Intron|LA16c-306E5.3_ENST00000574423.2_RNA|NAA60_ENST00000576916.1_Silent_p.L10L	p.L10L	NM_001083601.1	NP_001077070.1	Q9H7X0	NAT15_HUMAN			3	333	+			10					B3KRQ0|B4DLZ0|B4DPZ8|B4DYC4|D3DUC2|E7EQ65|Q6IA31|Q6UX26	Silent	SNP	ENST00000407558.4	37	c.30C>T	CCDS45396.1																																																																																				0.607	NAA60-001	KNOWN	NMD_exception|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317235.2	NM_024845		20	27	0	0	0	1	0	20	27					T	3526257	C	T	3526257	2	4	455	1	0	0	0	0	0	0	0	1	10176	813	29	2		2	NAT15	16	3526257	Silent	SNP	C	TCGA-H2-A422-01A-11D-A23M-08		3526257	86828496	17	9266											
LRRC36	55282	broad.mit.edu	37	chr16	67399260	67399261	+	Splice_Site	INS	-	-	A													acaatcaccaggaagatggtINSaaatattttgctcactgagt							TCGA-H2-A422-01A-11D-A23M-08	TCGA-H2-A422-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a09c40e3-3da4-4a6f-bc1b-886d6a6c6396	d8ec6736-9410-40cc-9570-5514962644ef	g.chr16:67399260_67399261insA	ENST00000329956.6	+	7	773		c.e7+2		LRRC36_ENST00000435835.3_Splice_Site|LRRC36_ENST00000541146.1_Intron|LRRC36_ENST00000290940.7_Intron|LRRC36_ENST00000563189.1_Splice_Site	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36									p.?(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		AGGAAGATGGTAAATATTTTGC	0.431																																						ENST00000329956.6																			1	Unknown(1)	p.?(1)	endometrium(1)	endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24						c.e7+2		leucine rich repeat containing 36																																				SO:0001630	splice_region_variant	55282							g.chr16:67399260_67399261insA	BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.754+2->A	16.37:g.67399263_67399263dupA						LRRC36_ENST00000541146.1_Intron|LRRC36_ENST00000563189.1_Splice_Site|LRRC36_ENST00000435835.3_Splice_Site|LRRC36_ENST00000290940.7_Intron		NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)	7	773	+		Ovarian(137;0.192)						A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Splice_Site	INS	ENST00000329956.6	37		CCDS32467.1																																																																																				0.431	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296	Intron	32	43						32	43	---	---	---	---	A	67399261	-	A	67399260	8	5	455	1	0	1	1	0	0	0	1	0	8990	1652	57	0	810	0	LRRC36	16	67399260	Splice_Site	INS	-	TCGA-H2-A422-01A-11D-A23M-08	63873003	67399260	22955493	18	9267											
KLHL36	79786	broad.mit.edu	37	chr16	84691221	84691221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgagggcttcatcgaggagGccgtgcgctaccacaacaac	13	13	1	0			TCGA-H2-A422-01A-11D-A23M-08	TCGA-H2-A422-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a09c40e3-3da4-4a6f-bc1b-886d6a6c6396	d8ec6736-9410-40cc-9570-5514962644ef	g.chr16:84691221G>A	ENST00000564996.1	+	3	949	c.808G>A	c.(808-810)Gcc>Acc	p.A270T	KLHL36_ENST00000258157.5_Missense_Mutation_p.A270T	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	270					protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CATCGAGGAGGCCGTGCGCTA	0.677																																						ENST00000564996.1																			0				endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(808-810)Gcc>Acc		kelch-like family member 36							32	29	30					16																	84691221		2197	4297	6494	SO:0001583	missense	79786							g.chr16:84691221G>A	AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"Kelch-like", "BTB/POZ domain containing"	17844	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 44", "kelch-like 36 (Drosophila)"	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.808G>A	16.37:g.84691221G>A	ENSP00000456743:p.Ala270Thr					KLHL36_ENST00000258157.5_Missense_Mutation_p.A270T	p.A270T	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN			3	949	+			270					Q8N5G6|Q9H9U6	Missense_Mutation	SNP	ENST00000564996.1	37	c.808G>A	CCDS10948.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726894	0.89390	.	.	ENSG00000135686	ENST00000325279;ENST00000258157	T	0.79940	-1.32	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.89972	0.6870	M	0.87617	2.895	0.80722	D	1	D;D	0.71674	0.996;0.998	P;P	0.59487	0.858;0.788	D	0.91340	0.5096	10	0.66056	D	0.02	.	18.4088	0.90543	0.0:0.0:1.0:0.0	.	270;270	Q8N4N3-2;Q8N4N3	.;KLH36_HUMAN	T	270	ENSP00000258157:A270T	ENSP00000258157:A270T	A	+	1	0	KLHL36	83248722	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.643000	0.98464	2.582000	0.87167	0.563000	0.77884	GCC		0.677	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2			20	54	0	0	0	1	0	20	54					A	84691221	G	A	84691221	3	1	455	1	0	0	0	0	1	0	0	0	8389	1203	42	2	814	2	KLHL36	16	84691221	Missense_Mutation	SNP	G	TCGA-H2-A422-01A-11D-A23M-08	17291961	84691221	5663532	19	9268											
CEP192	55125	broad.mit.edu	37	chr18	13056437	13056437	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cttgcctcagtgccatgctgGcaatgccacagtctgtggct	11	13	2	0			TCGA-H2-A422-01A-11D-A23M-08	TCGA-H2-A422-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a09c40e3-3da4-4a6f-bc1b-886d6a6c6396	d8ec6736-9410-40cc-9570-5514962644ef	g.chr18:13056437G>C	ENST00000325971.8	+	17	3653	c.2060G>C	c.(2059-2061)gGc>gCc	p.G687A	CEP192_ENST00000506447.1_Missense_Mutation_p.G1283A|CEP192_ENST00000430049.2_Missense_Mutation_p.G808A			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	687					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						TGCCATGCTGGCAATGCCACA	0.547																																						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.(3847-3849)gGc>gCc		centrosomal protein 192kDa							90	78	82					18																	13056437		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13056437G>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.2060G>C	18.37:g.13056437G>C	ENSP00000317156:p.Gly687Ala					CEP192_ENST00000325971.8_Missense_Mutation_p.G687A|CEP192_ENST00000430049.2_Missense_Mutation_p.G808A	p.G1283A	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			19	3928	+			878					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.3848G>C		.	.	.	.	.	.	.	.	.	.	G	4.134	0.023172	0.08006	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.22743	1.94;1.94;1.94	4.87	2.02	0.26589	.	0.724466	0.12845	N	0.434426	T	0.19846	0.0477	L	0.59436	1.845	0.09310	N	1	B;P;B	0.46064	0.129;0.872;0.129	B;B;B	0.42593	0.046;0.392;0.067	T	0.14309	-1.0477	10	0.14252	T	0.57	0.0643	8.0824	0.30752	0.147:0.1305:0.7225:0.0	.	808;1283;687	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	A	1283;687;687;808	ENSP00000427550:G1283A;ENSP00000317156:G687A;ENSP00000389190:G808A	ENSP00000317156:G687A	G	+	2	0	CEP192	13046437	0.167000	0.22975	0.000000	0.03702	0.004000	0.04260	2.697000	0.47060	0.104000	0.17725	-0.150000	0.13652	GGC		0.547	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		25	70	0	0	0	1	0	25	70					C	13056437	G	C	13056437	3	2	455	1	0	0	0	0	1	0	0	0	3251	1203	42	4	3918	4	CEP192	18	13056437	Missense_Mutation	SNP	G	TCGA-H2-A422-01A-11D-A23M-08		13056437	65020811	20	9269											
ARID3A	1820	broad.mit.edu	37	chr19	964263	964263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagggacacctgtgaaccGcatccccatcatggccaaac	8	17	1	1			TCGA-H2-A422-01A-11D-A23M-08	TCGA-H2-A422-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a09c40e3-3da4-4a6f-bc1b-886d6a6c6396	d8ec6736-9410-40cc-9570-5514962644ef	g.chr19:964263G>A	ENST00000263620.3	+	5	1109	c.782G>A	c.(781-783)cGc>cAc	p.R261H		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	261	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.					cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		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)		CCTGTGAACCGCATCCCCATC	0.637																																					Pancreas(29;54 1022 32760 50921)	ENST00000263620.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10						c.(781-783)cGc>cAc		AT rich interactive domain 3A (BRIGHT-like)							114	93	100					19																	964263		2203	4300	6503	SO:0001583	missense	1820					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:964263G>A	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"-"	3031	protein-coding gene	gene with protein product		603265	"dead ringer-like 1 (Drosophila)", "AT rich interactive domain 3A (BRIGHT- like)"	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.782G>A	19.37:g.964263G>A	ENSP00000263620:p.Arg261His						p.R261H	NM_005224.2	NP_005215.1	Q99856	ARI3A_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)	5	1109	+		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)	261			ARID.		Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Missense_Mutation	SNP	ENST00000263620.3	37	c.782G>A	CCDS12050.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.578637	0.65878	.	.	ENSG00000116017	ENST00000263620	T	0.63744	-0.06	4.5	4.5	0.54988	ARID/BRIGHT DNA-binding domain (5);	0.111581	0.64402	D	0.000017	T	0.76371	0.3978	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.79820	-0.1642	10	0.87932	D	0	-1.9051	14.6615	0.68876	0.0:0.0:1.0:0.0	.	261	Q99856	ARI3A_HUMAN	H	261	ENSP00000263620:R261H	ENSP00000263620:R261H	R	+	2	0	ARID3A	915263	1.000000	0.71417	0.946000	0.38457	0.302000	0.27658	9.342000	0.97044	2.061000	0.61500	0.561000	0.74099	CGC		0.637	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		4	69	0	0	0	1	0	4	69					A	964263	G	A	964263	3	1	455	1	0	0	0	0	1	0	0	0	916	1087	38	1	796	1	ARID3A	19	964263	Missense_Mutation	SNP	G	TCGA-H2-A422-01A-11D-A23M-08		964263	58164720	21	9270											
OR7A5	26659	broad.mit.edu	37	chr19	14938184	14938184	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtctttattcctcagactAtagataaaggggttcagcat	8	7	3	2	rs200531878		TCGA-H2-A422-01A-11D-A23M-08	TCGA-H2-A422-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a09c40e3-3da4-4a6f-bc1b-886d6a6c6396	d8ec6736-9410-40cc-9570-5514962644ef	g.chr19:14938184A>G	ENST00000322301.3	-	2	957	c.870T>C	c.(868-870)taT>taC	p.Y290Y	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Silent_p.Y290Y			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	290					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.Y290Y(2)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						TCCTCAGACTATAGATAAAGG	0.478																																						ENST00000322301.3																			2	Substitution - coding silent(2)	p.Y290Y(2)	kidney(2)	breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(868-870)taT>taC		olfactory receptor, family 7, subfamily A, member 5							74	72	72					19																	14938184		2203	4300	6503	SO:0001819	synonymous_variant	26659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14938184A>G	X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"GPCR / Class A : Olfactory receptors"	8368	protein-coding gene	gene with protein product			"olfactory receptor, family 7, subfamily A, member 5 pseudogene"				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.870T>C	19.37:g.14938184A>G						OR7A5_ENST00000594432.1_Silent_p.Y290Y|OR7A5_ENST00000601611.1_Intron	p.Y290Y			Q15622	OR7A5_HUMAN			2	957	-			290					B2R682|Q6IFP1|Q96R96	Silent	SNP	ENST00000322301.3	37	c.870T>C	CCDS12318.1																																																																																				0.478	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506		6	156	0	0	0	1	0	6	156					G	14938184	A	G	14938184	2	3	455	1	0	0	0	0	0	0	0	1	11216	456	16	3		3	OR7A5	19	14938184	Silent	SNP	A	TCGA-H2-A422-01A-11D-A23M-08	13973921	14938184	44190799	22	9271											
ATF5	22809	broad.mit.edu	37	chr19	50435872	50435872	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgccccgcccctcccaccAccctccccgccgccactacc	5	27	0	0			TCGA-H2-A422-01A-11D-A23M-08	TCGA-H2-A422-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a09c40e3-3da4-4a6f-bc1b-886d6a6c6396	d8ec6736-9410-40cc-9570-5514962644ef	g.chr19:50435872A>C	ENST00000423777.2	+	3	749	c.372A>C	c.(370-372)ccA>ccC	p.P124P	MIR4751_ENST00000578027.1_RNA|ATF5_ENST00000595125.1_Silent_p.P124P|CTC-326K19.6_ENST00000451973.1_Intron|NUP62_ENST00000352066.3_5'Flank|NUP62_ENST00000422090.2_5'Flank	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	124	Interaction with PTP4A1. {ECO:0000250}.|Poly-Pro.				multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|olfactory bulb interneuron development (GO:0021891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)|transcription corepressor activity (GO:0003714)			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	Pseudoephedrine(DB00852)	CCCTCccaccaccctccccgc	0.642																																					GBM(48;768 989 9196 9511 26329)	ENST00000423777.2																			0				NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7						c.(370-372)ccA>ccC		activating transcription factor 5							9	7	7					19																	50435872		2156	4167	6323	SO:0001819	synonymous_variant	22809				regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:50435872A>C	AF101388	CCDS12789.1	19q13.33	2013-09-20			ENSG00000169136	ENSG00000169136		"basic leucine zipper proteins"	790	protein-coding gene	gene with protein product		606398				10373550	Standard	NM_012068		Approved		uc002prd.3	Q9Y2D1	OTTHUMG00000183065	ENST00000423777.2:c.372A>C	19.37:g.50435872A>C						ATF5_ENST00000595125.1_Silent_p.P124P|CTC-326K19.6_ENST00000451973.1_Intron	p.P124P	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	3	749	+		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	124			Interaction with PTP4A1 (By similarity).|Poly-Pro.		B3KND3|Q9BSA1|Q9UNQ3	Silent	SNP	ENST00000423777.2	37	c.372A>C	CCDS12789.1																																																																																				0.642	ATF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464915.2			4	2	0	0	0	1	0	4	2					C	50435872	A	C	50435872	2	2	455	1	0	0	0	0	0	0	0	1	1083	146	6	5		5	ATF5	19	50435872	Silent	SNP	A	TCGA-H2-A422-01A-11D-A23M-08	35497688	50435872	8693111	23	9272											
CECR2	27443	broad.mit.edu	37	chr22	18021606	18021606	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atggctcctctggagtcccgGagccacaccccggggagcct	13	16	1	0			TCGA-H2-A422-01A-11D-A23M-08	TCGA-H2-A422-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a09c40e3-3da4-4a6f-bc1b-886d6a6c6396	d8ec6736-9410-40cc-9570-5514962644ef	g.chr22:18021606G>T	ENST00000400585.2	+	15	1912	c.1474G>T	c.(1474-1476)Gag>Tag	p.E492*	CECR2_ENST00000400573.5_Nonsense_Mutation_p.E633*|CECR2_ENST00000262608.8_Nonsense_Mutation_p.E634*			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	675	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TGGAGTCCCGGAGCCACACCC	0.602																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(1900-1902)Gag>Tag		cat eye syndrome chromosome region, candidate 2							31	35	33					22																	18021606		1933	4153	6086	SO:0001587	stop_gained	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18021606G>T	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1474G>T	22.37:g.18021606G>T	ENSP00000383428:p.Glu492*					CECR2_ENST00000400573.4_Nonsense_Mutation_p.E633*|CECR2_ENST00000400585.2_Nonsense_Mutation_p.E492*	p.E634*	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	14	1900	+		all_epithelial(15;0.139)	675					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Nonsense_Mutation	SNP	ENST00000400585.2	37	c.1900G>T		.	.	.	.	.	.	.	.	.	.	G	34	5.304685	0.95601	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	.	.	.	5.65	5.65	0.86999	.	0.125358	0.35772	N	0.002982	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-16.7239	19.7068	0.96076	0.0:0.0:1.0:0.0	.	.	.	.	X	492;633;634	.	ENSP00000262608:E634X	E	+	1	0	CECR2	16401606	1.000000	0.71417	0.943000	0.38184	0.104000	0.19210	6.440000	0.73435	2.650000	0.89964	0.591000	0.81541	GAG		0.602	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		9	51	1	0	1.12685e-05	1	1.14895e-05	9	51					T	18021606	G	T	18021606	4	4	455	1	0	0	0	0	0	1	0	0	3206	1175	41	4	1953	4	CECR2	22	18021606	Nonsense_Mutation	SNP	G	TCGA-H2-A422-01A-11D-A23M-08		18021606	33282960	24	9273											
SHC1	6464	broad.mit.edu	37	chr1	154940985	154940985	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaacctgtttgcagtctgCggccatgaggttgaggctgc	13	11	1	2	rs371992948	byFrequency	TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr1:154940985C>T	ENST00000368445.5	-	4	950	c.736G>A	c.(736-738)Gca>Aca	p.A246T	SHC1_ENST00000606391.1_Missense_Mutation_p.A47T|SHC1_ENST00000368450.1_Missense_Mutation_p.A136T|SHC1_ENST00000368453.4_Missense_Mutation_p.A136T|SHC1_ENST00000490667.1_5'Flank|SHC1_ENST00000368449.4_Missense_Mutation_p.A17T|SHC1_ENST00000448116.2_Missense_Mutation_p.A246T	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	246	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTGCAGTCTGCGGCCATGAGG	0.552													C|||	2	0.000399361	0	0	5008	,	,		19286	0.001		0	False		,,,				2504	0.001				NSCLC(4;32 234 1864 2492 3259 13747 17376)	ENST00000448116.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20						c.(736-738)Gca>Aca		SHC (Src homology 2 domain containing) transforming protein 1		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	192	202	199		736,406,271,406,736	5.4	1.0	1		199	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	SHC1	NM_001130040.1,NM_001130041.1,NM_001202859.1,NM_003029.4,NM_183001.4	58,58,58,58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	246/585,136/474,91/429,136/475,246/584	154940985	1,13005	2203	4300	6503	SO:0001583	missense	6464				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr1:154940985C>T	U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"SH2 domain containing"	10840	protein-coding gene	gene with protein product		600560	"SHC (Src homology 2 domain-containing) transforming protein 1"	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.736G>A	1.37:g.154940985C>T	ENSP00000357430:p.Ala246Thr					SHC1_ENST00000606391.1_Missense_Mutation_p.A47T|SHC1_ENST00000368450.1_Missense_Mutation_p.A136T|SHC1_ENST00000368453.4_Missense_Mutation_p.A136T|SHC1_ENST00000368445.5_Missense_Mutation_p.A246T|SHC1_ENST00000368449.4_Missense_Mutation_p.A17T	p.A246T	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		4	956	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		246			PID.		B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Missense_Mutation	SNP	ENST00000368445.5	37	c.736G>A	CCDS30881.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827512	0.50845	0.0	1.16E-4	ENSG00000160691	ENST00000368445;ENST00000448116;ENST00000368449;ENST00000368453;ENST00000368450;ENST00000368443;ENST00000414115;ENST00000444179;ENST00000412170;ENST00000366442	T;T;T;T;T;T;T;T;T	0.32272	2.07;2.07;2.07;2.07;2.07;1.46;2.07;2.07;2.07	5.45	5.45	0.79879	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.124032	0.53938	D	0.000045	T	0.07143	0.0181	N	0.11000	0.08	0.33533	D	0.593833	B;B;B	0.32829	0.386;0.023;0.029	B;B;B	0.29524	0.103;0.009;0.016	T	0.19031	-1.0318	10	0.23891	T	0.37	.	12.4188	0.55508	0.283:0.717:0.0:0.0	.	25;246;246	Q59HB0;P29353-6;P29353	.;.;SHC1_HUMAN	T	246;246;47;136;136;182;17;17;136;136	ENSP00000357430:A246T;ENSP00000401303:A246T;ENSP00000357434:A47T;ENSP00000357438:A136T;ENSP00000357435:A136T;ENSP00000404908:A17T;ENSP00000398864:A17T;ENSP00000398441:A136T;ENSP00000396162:A136T	ENSP00000396162:A136T	A	-	1	0	SHC1	153207609	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.811000	0.27198	2.555000	0.86185	0.467000	0.42956	GCA		0.552	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090781.2	NM_183001		5	469	0	0	0	1	0	5	469					T	154940985	C	T	154940985	3	4	456	1	0	0	0	0	1	0	0	0	14270	768	27	1	1054	1	SHC1	1	154940985	Missense_Mutation	SNP	C	TCGA-IM-A3EB-01A-11D-A202-08		154940985	94309636	1	9274											
OR2T29	343563	broad.mit.edu	37	chr1	248722467	248722470	+	Frame_Shift_Del	DEL	AGAT	AGAT	-													attccgaacctgctagtgtcAgatagaggaacatctgcatc							TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr1:248722467_248722470delAGAT	ENST00000328570.3	-	1	327_330	c.323_326delATCT	c.(322-327)tatctgfs	p.YL108fs	RP11-438F14.3_ENST00000438623.1_RNA	NM_001004694.2	NP_001004694.2	Q8NH02	O2T29_HUMAN	olfactory receptor, family 2, subfamily T, member 29	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|lung(4)	5	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGCTAGTGTCAGATAGAGGAACAT	0.525																																						ENST00000328570.3																			0				NS(1)|lung(4)	5						c.(322-327)tgfs		olfactory receptor, family 2, subfamily T, member 29				7,1113		2,3,555						-0.4	0.1			2	0,1480		0,0,740	no	frameshift	OR2T29	NM_001004694.2		2,3,1295	A1A1,A1R,RR		0.0,0.625,0.2692				7,2593				SO:0001589	frameshift_variant	343563				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248722467_248722470delAGAT		CCDS55695.1	1q44	2012-08-09			ENSG00000182783	ENSG00000182783		"GPCR / Class A : Olfactory receptors"	31253	protein-coding gene	gene with protein product							Standard	NM_001004694		Approved		uc001ieo.2	Q8NH02	OTTHUMG00000040382	ENST00000328570.3:c.323_326delATCT	1.37:g.248722467_248722470delAGAT	ENSP00000331774:p.Tyr108fs					RP11-438F14.3_ENST00000438623.1_RNA	p.YL108fs	NM_001004694.2	NP_001004694.2	Q8NH02	O2T29_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	327_330	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		108						Frame_Shift_Del	DEL	ENST00000328570.3	37	c.323_326delATCT	CCDS55695.1																																																																																				0.525	OR2T29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097132.1	NM_001004694		2	4						2	4	---	---	---	---	-	248722470	AGAT	-	248722467	7	5	456	1	0	1	0	1	0	0	0	0	11022	188	7	0	625	0	OR2T29	1	248722467	Frame_Shift_Del	DEL	AGAT	TCGA-IM-A3EB-01A-11D-A202-08	93781482	248722467	528154	2	9275											
PGBD2	267002	broad.mit.edu	37	chr1	249211398	249211398	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgttctgggaaacctctccCgattcacatcatcatcttgt	6	12	6	0	rs377474764		TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr1:249211398C>A	ENST00000329291.5	+	3	762	c.615C>A	c.(613-615)ccC>ccA	p.P205P	PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000539153.1_Silent_p.P202P	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	205								p.P205P(1)		NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AAACCTCTCCCGATTCACATC	0.398																																						ENST00000539153.1																			1	Substitution - coding silent(1)	p.P205P(1)	lung(1)	NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14						c.(604-606)ccC>ccA		piggyBac transposable element derived 2							137	140	139					1																	249211398		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr1:249211398C>A	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.615C>A	1.37:g.249211398C>A						PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000329291.5_Silent_p.P205P	p.P202P			Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		4	861	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	205					B3KVR8|Q6MZF8	Silent	SNP	ENST00000329291.5	37	c.606C>A	CCDS31128.1																																																																																				0.398	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			4	203	1	0	0.150653	1	0.165233	4	203					A	249211398	C	A	249211398	2	1	456	1	0	0	0	0	0	0	0	1	11781	639	23	4		4	PGBD2	1	249211398	Silent	SNP	C	TCGA-IM-A3EB-01A-11D-A202-08	488931	249211398	39223	3	9276											
PLA2R1	22925	broad.mit.edu	37	chr2	160869870	160869870	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caattttgtaacagaatccaCcatgtctctcccatccctta	3	14	1	1			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr2:160869870C>A	ENST00000283243.7	-	10	1774	c.1568G>T	c.(1567-1569)gGt>gTt	p.G523V	PLA2R1_ENST00000392771.1_Missense_Mutation_p.G523V	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	523	C-type lectin 3. {ECO:0000255|PROSITE- ProRule:PRU00040}.			RHG -> ETC (in Ref. 1; AAA70110/ AAC50163). {ECO:0000305}.	cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						ACAGAATCCACCATGTCTCTC	0.378																																						ENST00000283243.7																		PLA2R1/RBMS1(2)	0				central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(1567-1569)gGt>gTt		phospholipase A2 receptor 1, 180kDa							100	95	97					2																	160869870		2203	4300	6503	SO:0001583	missense	0				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160869870C>A	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"C-type lectin domain containing"	9042	protein-coding gene	gene with protein product		604939	"phospholipase A2 receptor 1, 180kD"			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.1568G>T	2.37:g.160869870C>A	ENSP00000283243:p.Gly523Val					PLA2R1_ENST00000392771.1_Missense_Mutation_p.G523V	p.G523V	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN			10	1774	-			523	RHG -> ETC (in Ref. 1; AAA70110/ AAC50163).		C-type lectin 3.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	c.1568G>T	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901105	0.72754	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.10005	2.92;2.92	5.26	4.39	0.52855	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.236182	0.43416	D	0.000574	T	0.35682	0.0940	M	0.87038	2.855	0.80722	D	1	P;D;D	0.76494	0.834;0.993;0.999	B;P;D	0.64776	0.365;0.903;0.929	T	0.39961	-0.9588	10	0.72032	D	0.01	.	13.9664	0.64211	0.0:0.9266:0.0:0.0734	.	523;523;523	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	V	523	ENSP00000283243:G523V;ENSP00000376524:G523V	ENSP00000283243:G523V	G	-	2	0	PLA2R1	160578116	0.995000	0.38212	0.844000	0.33320	0.966000	0.64601	3.718000	0.54919	1.344000	0.45657	0.650000	0.86243	GGT		0.378	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			16	43	1	0	1.3612e-06	1	1.65289e-06	16	43					A	160869870	C	A	160869870	3	1	456	1	0	0	0	0	1	0	0	0	12010	507	18	4	2915	4	PLA2R1	2	160869870	Missense_Mutation	SNP	C	TCGA-IM-A3EB-01A-11D-A202-08		160869870	82329503	4	9277											
LRPAP1	4043	broad.mit.edu	37	chr4	3534117	3534117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgggagcccgcgcagaaacGacctgaccctccgcggcgcc	13	19	0	2			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr4:3534117G>A	ENST00000500728.2	-	1	169	c.23C>T	c.(22-24)tCg>tTg	p.S8L	LRPAP1_ENST00000296325.5_5'Flank	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	8					extracellular negative regulation of signal transduction (GO:1900116)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of protein binding (GO:0032091)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|protein folding (GO:0006457)|receptor-mediated endocytosis (GO:0006898)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum lumen (GO:0048237)|vesicle (GO:0031982)	asialoglycoprotein receptor activity (GO:0004873)|heparin binding (GO:0008201)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|unfolded protein binding (GO:0051082)|very-low-density lipoprotein particle receptor binding (GO:0070326)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		GCGCAGAAACGACCTGACCCT	0.711																																						ENST00000500728.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14						c.(22-24)tCg>tTg		low density lipoprotein receptor-related protein associated protein 1							11	13	13					4																	3534117		2171	4278	6449	SO:0001583	missense	4043				negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding	g.chr4:3534117G>A		CCDS3371.1	4p16.3	2008-05-02	2003-03-17		ENSG00000163956	ENSG00000163956			6701	protein-coding gene	gene with protein product		104225	"low density lipoprotein-related protein-associated protein 1 (alpha-2-macroglobulin receptor-associated protein 1)"	A2MRAP		1712782	Standard	NM_002337		Approved	HBP44	uc003ghh.4	P30533	OTTHUMG00000090299	ENST00000500728.2:c.23C>T	4.37:g.3534117G>A	ENSP00000421922:p.Ser8Leu						p.S8L	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.165)	1	169	-			8					D3DVR9|Q2M310|Q53HQ3|Q53HS6	Missense_Mutation	SNP	ENST00000500728.2	37	c.23C>T	CCDS3371.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.963702	0.34659	.	.	ENSG00000163956	ENST00000500728	T	0.33216	1.42	3.15	-3.5	0.04710	.	3.037260	0.01740	N	0.029327	T	0.21145	0.0509	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.28004	-1.0057	10	0.72032	D	0.01	.	4.9876	0.14198	0.5649:0.1652:0.2699:0.0	.	8	P30533	AMRP_HUMAN	L	8	ENSP00000421922:S8L	ENSP00000421922:S8L	S	-	2	0	LRPAP1	3503915	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.121000	0.10643	-0.846000	0.04174	-0.225000	0.12378	TCG		0.711	LRPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206659.4			3	4	0	0	0	1	0	3	4					A	3534117	G	A	3534117	3	1	456	1	0	0	0	0	1	0	0	0	8964	1059	37	1	1082	1	LRPAP1	4	3534117	Missense_Mutation	SNP	G	TCGA-IM-A3EB-01A-11D-A202-08		3534117	187620159	5	9278											
ANXA3	306	broad.mit.edu	37	chr4	79525503	79525503	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aaattgaccttttggacattCgaacagagttcaagaagcat	8	7	1	3	rs377732793		TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr4:79525503C>A	ENST00000264908.6	+	12	1241	c.862C>A	c.(862-864)Cga>Aga	p.R288R	ANXA3_ENST00000503570.2_Silent_p.R249R|ANXA3_ENST00000512884.1_Silent_p.R249R	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	288					defense response to bacterium (GO:0042742)|neutrophil degranulation (GO:0043312)|phagocytosis (GO:0006909)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TTTGGACATTCGAACAGAGTT	0.368																																					GBM(2;126 157 27790 28920 42492)	ENST00000264908.6																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(862-864)Cga>Aga		annexin A3							116	111	113					4																	79525503		2203	4300	6503	SO:0001819	synonymous_variant	306				defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity	g.chr4:79525503C>A	M63310	CCDS3584.1	4q21.21	2009-07-10			ENSG00000138772	ENSG00000138772	3.1.4.43	"Annexins"	541	protein-coding gene	gene with protein product		106490		ANX3		1830024	Standard	XM_005262973		Approved		uc003hld.3	P12429	OTTHUMG00000130198	ENST00000264908.6:c.862C>A	4.37:g.79525503C>A						ANXA3_ENST00000503570.2_Silent_p.R249R|ANXA3_ENST00000512884.1_Silent_p.R249R	p.R288R	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN			12	1241	+			288					B2R9W6|Q6LET2	Silent	SNP	ENST00000264908.6	37	c.862C>A	CCDS3584.1																																																																																				0.368	ANXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252516.3	NM_005139		3	94	1	0	1	1	1	3	94					A	79525503	C	A	79525503	2	1	456	1	0	0	0	0	0	0	0	1	719	876	31	4		4	ANXA3	4	79525503	Silent	SNP	C	TCGA-IM-A3EB-01A-11D-A202-08	75991386	79525503	111628773	6	9279											
RGMB	285704	broad.mit.edu	37	chr5	98115491	98115491	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgtgttgggtatcagtgaccTcatgagccagaggaattgtt	13	7	2	3			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr5:98115491T>A	ENST00000513185.1	+	2	780	c.344T>A	c.(343-345)cTc>cAc	p.L115H	RGMB_ENST00000308234.7_Missense_Mutation_p.L156H|RGMB_ENST00000504776.1_3'UTR			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	115					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		ATCAGTGACCTCATGAGCCAG	0.557																																						ENST00000308234.7																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10						c.(466-468)cTc>cAc		repulsive guidance molecule family member b							61	62	62					5																	98115491		1994	4173	6167	SO:0001583	missense	285704				axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding	g.chr5:98115491T>A	AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"RGM domain family, member B"			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.344T>A	5.37:g.98115491T>A	ENSP00000423256:p.Leu115His					RGMB_ENST00000504776.1_3'UTR|RGMB_ENST00000513185.1_Missense_Mutation_p.L115H	p.L156H	NM_001012761.2	NP_001012779.2	Q6NW40	RGMB_HUMAN		COAD - Colon adenocarcinoma(37;0.0587)	4	869	+		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)	115					D6R9A0|Q8NC92	Missense_Mutation	SNP	ENST00000513185.1	37	c.467T>A		.	.	.	.	.	.	.	.	.	.	T	26.1	4.706387	0.89018	.	.	ENSG00000174136	ENST00000308234;ENST00000513185	D;D	0.97994	-4.65;-4.65	5.4	5.4	0.78164	Repulsive guidance molecule, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98406	0.9470	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99007	1.0813	10	0.48119	T	0.1	-23.3147	15.7042	0.77565	0.0:0.0:0.0:1.0	.	115	Q6NW40	RGMB_HUMAN	H	156;115	ENSP00000308219:L156H;ENSP00000423256:L115H	ENSP00000308219:L156H	L	+	2	0	RGMB	98143391	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.655000	0.83696	2.171000	0.68590	0.460000	0.39030	CTC		0.557	RGMB-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370308.1	NM_173670		3	65	0	0	0	1	0	3	65					A	98115491	T	A	98115491	3	1	456	1	0	0	0	0	1	0	0	0	13281	1551	54	5	477	5	RGMB	5	98115491	Missense_Mutation	SNP	T	TCGA-IM-A3EB-01A-11D-A202-08		98115491	82799769	7	9280											
HS3ST5	222537	broad.mit.edu	37	chr6	114379018	114379018	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcaattgtgatttgctgAgggtaggaaaaaggcatctt	11	4	2	2			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr6:114379018A>G	ENST00000312719.5	-	5	1632	c.444T>C	c.(442-444)ccT>ccC	p.P148P	RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|HS3ST5_ENST00000411826.1_Silent_p.P148P			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	148					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		TGATTTGCTGAGGGTAGGAAA	0.373																																						ENST00000312719.5																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41						c.(442-444)ccT>ccC		heparan sulfate (glucosamine) 3-O-sulfotransferase 5							126	130	129					6																	114379018		2203	4300	6503	SO:0001819	synonymous_variant	222537				heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding	g.chr6:114379018A>G	AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"Sulfotransferases, membrane-bound"	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.444T>C	6.37:g.114379018A>G						HS3ST5_ENST00000411826.1_Silent_p.P148P|RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA	p.P148P			Q8IZT8	HS3S5_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)	5	1632	-		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)	148					A8K1J2|Q52LI2|Q8N285	Silent	SNP	ENST00000312719.5	37	c.444T>C	CCDS34517.1																																																																																				0.373	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041911.2	NM_153612		67	133	0	0	0	1	0	67	133					G	114379018	A	G	114379018	2	3	456	1	0	0	0	0	0	0	0	1	7368	291	11	3		3	HS3ST5	6	114379018	Silent	SNP	A	TCGA-IM-A3EB-01A-11D-A202-08		114379018	56736049	8	9281											
LAMA2	3908	broad.mit.edu	37	chr6	129588337	129588337	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctttggtcatgcggagtcCtgtgatgacgtcactggaga	14	8	2	3			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr6:129588337C>A	ENST00000421865.2	+	16	2344	c.2295C>A	c.(2293-2295)tcC>tcA	p.S765S		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	765	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATGCGGAGTCCTGTGATGACG	0.488																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(2293-2295)tcC>tcA		laminin, alpha 2							315	261	279					6																	129588337		2203	4300	6503	SO:0001819	synonymous_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129588337C>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.2295C>A	6.37:g.129588337C>A							p.S765S	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	16	2344	+			765			Laminin EGF-like 6.		Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	c.2295C>A	CCDS5138.1																																																																																				0.488	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			4	227	1	0	0.00024832	1	0.000291134	4	227					A	129588337	C	A	129588337	2	1	456	1	0	0	0	0	0	0	0	1	8606	668	24	4		4	LAMA2	6	129588337	Silent	SNP	C	TCGA-IM-A3EB-01A-11D-A202-08	15209319	129588337	41526730	9	9282											
C7orf42	55069	broad.mit.edu	37	chr7	66410130	66410130	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccctggaggactcgggcccGgtgaatatctcagtctcaat	12	12	2	1	rs540067694	byFrequency	TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr7:66410130G>T	ENST00000341567.4	+	3	582	c.327G>T	c.(325-327)ccG>ccT	p.P109P		NM_017994.4	NP_060464.1	Q9NWD8	TM248_HUMAN	transmembrane protein 248	109						integral component of membrane (GO:0016021)											ACTCGGGCCCGGTGAATATCT	0.582																																						ENST00000341567.4																			0											c.(325-327)ccG>ccT		transmembrane protein 248							60	63	62					7																	66410130		2203	4300	6503	SO:0001819	synonymous_variant	55069							g.chr7:66410130G>T		CCDS5536.1	7q11.21	2012-05-30	2012-05-30	2012-05-30	ENSG00000106609	ENSG00000106609			25476	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 42"	C7orf42		12477932	Standard	XM_005250482		Approved	FLJ10099, FLJ13090	uc003tvk.3	Q9NWD8	OTTHUMG00000129553	ENST00000341567.4:c.327G>T	7.37:g.66410130G>T							p.P109P	NM_017994.4	NP_060464.1					3	582	+								Q53H07|Q96FR2	Silent	SNP	ENST00000341567.4	37	c.327G>T	CCDS5536.1																																																																																				0.582	TMEM248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251745.2	NM_017994		3	88	1	0	1	1	1	3	88					T	66410130	G	T	66410130	2	4	456	1	0	0	0	0	0	0	0	1	2392	1103	39	4		4	C7orf42	7	66410130	Silent	SNP	G	TCGA-IM-A3EB-01A-11D-A202-08		66410130	92728533	10	9283											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		23	59	0	0	0	1	0	23	59					T	140453136	A	T	140453136	3	4	456	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-IM-A3EB-01A-11D-A202-08	74043006	140453136	18685527	11	9284											
OR1K1	392392	broad.mit.edu	37	chr9	125563190	125563190	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attgcagtctacttccaggcCacatcccgacgcgaggcaga	10	14	1	1			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr9:125563190C>A	ENST00000277309.2	+	1	821	c.789C>A	c.(787-789)gcC>gcA	p.A263A		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	263						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						ACTTCCAGGCCACATCCCGAC	0.612																																						ENST00000277309.2																			0				endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						c.(787-789)gcC>gcA		olfactory receptor, family 1, subfamily K, member 1							116	105	109					9																	125563190		2203	4300	6503	SO:0001819	synonymous_variant	0				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125563190C>A	AL359512	CCDS35132.1	9q33	2013-09-20			ENSG00000165204	ENSG00000165204		"GPCR / Class A : Olfactory receptors"	8212	protein-coding gene	gene with protein product							Standard	NM_080859		Approved	hg99, MNAB	uc011lze.2	Q8NGR3	OTTHUMG00000020625	ENST00000277309.2:c.789C>A	9.37:g.125563190C>A							p.A263A	NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN			1	821	+			263					B9EH41|Q4VXB7|Q96R23	Silent	SNP	ENST00000277309.2	37	c.789C>A	CCDS35132.1																																																																																				0.612	OR1K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053958.1			4	146	1	0	1	1	1	4	146					A	125563190	C	A	125563190	2	1	456	1	0	0	0	0	0	0	0	1	10962	581	21	4		4	OR1K1	9	125563190	Silent	SNP	C	TCGA-IM-A3EB-01A-11D-A202-08		125563190	15650241	12	9285											
NAP1L4	4676	broad.mit.edu	37	chr11	2981037	2981037	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggaccttcaaaggaaaAgggatcagccttatctggtt	10	9	4	0			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr11:2981037A>G	ENST00000380542.4	-	9	849	c.709T>C	c.(709-711)Ttt>Ctt	p.F237L	NAP1L4_ENST00000526115.1_Missense_Mutation_p.F237L	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4	237					nucleosome assembly (GO:0006334)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		TCAAAGGAAAAGGGATCAGCC	0.373																																						ENST00000380542.4																			0				endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13						c.(709-711)Ttt>Ctt		nucleosome assembly protein 1-like 4							139	127	131					11																	2981037		1852	4082	5934	SO:0001583	missense	4676				nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding	g.chr11:2981037A>G	AA573896, BC022090, U77456	CCDS41599.1	11p15.5	2007-12-06			ENSG00000205531	ENSG00000205531			7640	protein-coding gene	gene with protein product		601651				8923002	Standard	NM_005969		Approved	NAP2	uc001lxc.3	Q99733	OTTHUMG00000011009	ENST00000380542.4:c.709T>C	11.37:g.2981037A>G	ENSP00000369915:p.Phe237Leu					NAP1L4_ENST00000526115.1_Missense_Mutation_p.F237L	p.F237L	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)	9	849	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	237					B2R6J4|F5HFY4	Missense_Mutation	SNP	ENST00000380542.4	37	c.709T>C	CCDS41599.1	.	.	.	.	.	.	.	.	.	.	A	15.34	2.805961	0.50421	.	.	ENSG00000205531	ENST00000399624;ENST00000380542;ENST00000526115;ENST00000532325;ENST00000448187	T;T;T	0.26223	1.75;1.75;1.75	4.87	3.73	0.42828	.	0.000000	0.85682	D	0.000000	T	0.37019	0.0988	L	0.56396	1.775	0.80722	D	1	P;P	0.44776	0.843;0.546	P;B	0.53006	0.715;0.387	T	0.05386	-1.0888	10	0.38643	T	0.18	-9.5204	11.7769	0.51991	0.8525:0.1475:0.0:0.0	.	237;237	F5HFY4;Q99733	.;NP1L4_HUMAN	L	237;237;237;122;249	ENSP00000369915:F237L;ENSP00000436397:F237L;ENSP00000387783:F249L	ENSP00000369915:F237L	F	-	1	0	NAP1L4	2937613	1.000000	0.71417	0.188000	0.23233	0.582000	0.36321	8.584000	0.90798	0.868000	0.35678	0.455000	0.32223	TTT		0.373	NAP1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030273.3	NM_005969		3	69	0	0	0	1	0	3	69					G	2981037	A	G	2981037	3	3	456	1	0	0	0	0	1	0	0	0	10159	72	3	3	446	3	NAP1L4	11	2981037	Missense_Mutation	SNP	A	TCGA-IM-A3EB-01A-11D-A202-08		2981037	132025479	13	9286											
C11orf65	160140	broad.mit.edu	37	chr11	108332225	108332225	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaggaaacttttccaggccTgctgaatgactctggcagcc	10	12	1	2			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr11:108332225T>C	ENST00000529391.1	-	1	71	c.62A>G	c.(61-63)cAg>cGg	p.Q21R	C11orf65_ENST00000525729.1_Missense_Mutation_p.Q21R|C11orf65_ENST00000393084.1_Missense_Mutation_p.Q21R			Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	21										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		TTTCCAGGCCTGCTGAATGAC	0.299																																						ENST00000525729.1																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10						c.(61-63)cAg>cGg		chromosome 11 open reading frame 65							76	85	82					11																	108332225		2201	4298	6499	SO:0001583	missense	160140							g.chr11:108332225T>C	BC059411	CCDS8340.1	11q22.3	2012-05-30			ENSG00000166323	ENSG00000166323			28519	protein-coding gene	gene with protein product						12477932	Standard	NM_152587		Approved	MGC33948	uc001pkh.3	Q8NCR3	OTTHUMG00000166489	ENST00000529391.1:c.62A>G	11.37:g.108332225T>C	ENSP00000436400:p.Gln21Arg					C11orf65_ENST00000529391.1_Missense_Mutation_p.Q21R|C11orf65_ENST00000393084.1_Missense_Mutation_p.Q21R	p.Q21R			Q8NCR3	CK065_HUMAN		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)	2	131	-		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	21					B4DZU4|Q6PCA8	Missense_Mutation	SNP	ENST00000529391.1	37	c.62A>G	CCDS8340.1	.	.	.	.	.	.	.	.	.	.	T	0.184	-1.059069	0.01950	.	.	ENSG00000166323	ENST00000525729;ENST00000529391;ENST00000393084;ENST00000533583	T;T;T	0.30448	1.53;1.53;1.53	4.36	-2.0	0.07433	.	0.887861	0.09449	N	0.800756	T	0.08268	0.0206	N	0.01188	-0.97	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.37267	-0.9713	10	0.02654	T	1	0.3024	8.7176	0.34421	0.0:0.4457:0.0:0.5543	.	21;21	B4DZU4;Q8NCR3	.;CK065_HUMAN	R	21	ENSP00000436400:Q21R;ENSP00000376799:Q21R;ENSP00000434500:Q21R	ENSP00000376799:Q21R	Q	-	2	0	C11orf65	107837435	0.699000	0.27786	0.294000	0.24946	0.994000	0.84299	0.250000	0.18235	-0.366000	0.08064	0.528000	0.53228	CAG		0.299	C11orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390010.3	NM_152587		3	79	0	0	0	1	0	3	79					C	108332225	T	C	108332225	3	2	456	1	0	0	0	0	1	0	0	0	1655	1580	55	3	911	3	C11orf65	11	108332225	Missense_Mutation	SNP	T	TCGA-IM-A3EB-01A-11D-A202-08	105351188	108332225	26674291	14	9287											
EMG1	10436	broad.mit.edu	37	chr12	7080212	7080213	+	Splice_Site	INS	-	-	C													acaagatcggaggccgtagtINSttattgtggtgctggaaggg					rs11428482|rs374779752|rs17857448		TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr12:7080212_7080213insC	ENST00000261406.6	+	2	267_268	c.124_125insC	c.(124-126)ttt>tCtt	p.F42fs	PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000535923.1_5'Flank|EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000542912.1_5'Flank|PHB2_ENST00000546111.1_5'Flank|PHB2_ENST00000544134.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		GAGGCCGTAGTTTATTGTGGTG	0.569																																						ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3746,4		1873,0,2						5.4	1.0		dbSNP_120	28	7902,2		3951,0,1	no	frameshift	EMG1	NM_006331.7		5824,0,3	A1A1,A1R,RR		0.0253,0.1067,0.0515				11648,6				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080212_7080213insC	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"EMG1 nucleolar protein homolog (S. cerevisiae)"			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->C	12.37:g.7080212_7080213insC						U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA				Q92979	NEP1_HUMAN			0	157_158	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Frame_Shift_Ins	9	15						9	15	---	---	---	---	C	7080213	-	C	7080212	8	5	456	1	0	1	1	0	0	0	1	0	5090	1722	60	0	128	0	EMG1	12	7080212	Splice_Site	INS	-	TCGA-IM-A3EB-01A-11D-A202-08		7080212	126771683	15	9288											
CSRNP2	81566	broad.mit.edu	37	chr12	51467752	51467752	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	catgcccagagagctaccacCctggctgggcacactggtaa	11	14	0	1			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr12:51467752C>G	ENST00000228515.1	-	3	562	c.265G>C	c.(265-267)Ggt>Cgt	p.G89R	CSRNP2_ENST00000550461.1_5'Flank	NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	89					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						GAGCTACCACCCTGGCTGGGC	0.552																																						ENST00000228515.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						c.(265-267)Ggt>Cgt		cysteine-serine-rich nuclear protein 2							85	90	88					12																	51467752		2203	4300	6503	SO:0001583	missense	81566				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:51467752C>G	AJ298133	CCDS8807.1	12q13.11-q13.12	2012-04-17	2009-01-07	2009-01-07				"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	16006	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 72"		"chromosome 12 open reading frame 22", "family with sequence similarity 130, member A1"	C12orf22, FAM130A1		17726538	Standard	NM_030809		Approved	C12ORF2, TAIP-12, PPP1R72	uc001rxu.2	Q9H175		ENST00000228515.1:c.265G>C	12.37:g.51467752C>G	ENSP00000228515:p.Gly89Arg						p.G89R	NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN			3	562	-			89						Missense_Mutation	SNP	ENST00000228515.1	37	c.265G>C	CCDS8807.1	.	.	.	.	.	.	.	.	.	.	C	31	5.099299	0.94197	.	.	ENSG00000110925	ENST00000228515;ENST00000548981	T;T	0.15834	2.39;2.39	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.50257	0.1605	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57837	-0.7742	10	0.87932	D	0	-21.8308	17.8355	0.88694	0.0:1.0:0.0:0.0	.	89	Q9H175	CSRN2_HUMAN	R	89	ENSP00000228515:G89R;ENSP00000447657:G89R	ENSP00000228515:G89R	G	-	1	0	CSRNP2	49754019	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.565000	0.82337	2.826000	0.97356	0.655000	0.94253	GGT		0.552	CSRNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404893.1			9	118	0	0	0	1	0	9	118					G	51467752	C	G	51467752	3	3	456	1	0	0	0	0	1	0	0	0	3964	623	22	4	1378	4	CSRNP2	12	51467752	Missense_Mutation	SNP	C	TCGA-IM-A3EB-01A-11D-A202-08	44387540	51467752	82384143	16	9289											
OR6S1	341799	broad.mit.edu	37	chr14	21109731	21109731	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atcaacacattgcctgtcagAttcaggagatagacaagaag	9	8	3	4			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr14:21109731A>T	ENST00000320704.3	-	1	119	c.120T>A	c.(118-120)aaT>aaA	p.N40K		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TGCCTGTCAGATTCAGGAGAT	0.473																																						ENST00000320704.3																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(118-120)aaT>aaA		olfactory receptor, family 6, subfamily S, member 1							98	96	97					14																	21109731		2203	4300	6503	SO:0001583	missense	341799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21109731A>T	AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"GPCR / Class A : Olfactory receptors"	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.120T>A	14.37:g.21109731A>T	ENSP00000313110:p.Asn40Lys						p.N40K	NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)	1	119	-	all_cancers(95;0.00304)		40					Q6IFJ9	Missense_Mutation	SNP	ENST00000320704.3	37	c.120T>A	CCDS32038.1	.	.	.	.	.	.	.	.	.	.	A	12.15	1.850212	0.32699	.	.	ENSG00000181803	ENST00000320704	T	0.00505	6.93	5.84	2.01	0.26516	.	0.137449	0.33457	N	0.004900	T	0.00412	0.0013	L	0.46157	1.445	0.19945	N	0.99994	B	0.13594	0.008	B	0.15052	0.012	T	0.51268	-0.8727	10	0.87932	D	0	-5.2442	1.7313	0.02932	0.5531:0.1718:0.1086:0.1666	.	40	Q8NH40	OR6S1_HUMAN	K	40	ENSP00000313110:N40K	ENSP00000313110:N40K	N	-	3	2	OR6S1	20179571	0.000000	0.05858	0.994000	0.49952	0.527000	0.34593	-1.501000	0.02281	0.411000	0.25702	0.533000	0.62120	AAT		0.473	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411227.1			19	119	0	0	0	1	0	19	119					T	21109731	A	T	21109731	3	4	456	1	0	0	0	0	1	0	0	0	11209	330	12	5	879	5	OR6S1	14	21109731	Missense_Mutation	SNP	A	TCGA-IM-A3EB-01A-11D-A202-08		21109731	86239809	17	9290											
PRSS27	83886	broad.mit.edu	37	chr16	2764076	2764076	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccccttaccttcctcactGgggctgccccagccagtgac	9	18	1	1			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr16:2764076G>A	ENST00000302641.3	-	4	552	c.498C>T	c.(496-498)ccC>ccT	p.P166P	AC092117.1_ENST00000410123.1_RNA	NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	166	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						CTTCCTCACTGGGGCTGCCCC	0.597																																						ENST00000302641.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						c.(496-498)ccC>ccT		protease, serine 27							88	89	89					16																	2764076		2198	4300	6498	SO:0001819	synonymous_variant	83886				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:2764076G>A	AB056161	CCDS10476.1	16p13.3	2010-05-07			ENSG00000172382	ENSG00000172382		"Serine peptidases / Serine peptidases"	15475	protein-coding gene	gene with protein product		608018					Standard	NM_031948		Approved	MPN, pancreasin, CAPH2, marapsin	uc002crf.3	Q9BQR3	OTTHUMG00000128929	ENST00000302641.3:c.498C>T	16.37:g.2764076G>A							p.P166P	NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN			4	552	-			166			Peptidase S1.			Silent	SNP	ENST00000302641.3	37	c.498C>T	CCDS10476.1																																																																																				0.597	PRSS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250908.1	NM_031948		72	122	0	0	0	1	0	72	122					A	2764076	G	A	2764076	2	1	456	1	0	0	0	0	0	0	0	1	12621	1335	47	2		2	PRSS27	16	2764076	Silent	SNP	G	TCGA-IM-A3EB-01A-11D-A202-08		2764076	87590677	18	9291											
SFRS2	6427	broad.mit.edu	37	chr17	74732250	74732250	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cattaccattttcttaagagGacaccgctccttcctcttca	4	14	3	1			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr17:74732250G>C	ENST00000392485.2	-	2	831	c.659C>G	c.(658-660)tCc>tGc	p.S220C	SRSF2_ENST00000508921.3_Missense_Mutation_p.S208C|MFSD11_ENST00000355954.3_5'Flank|MFSD11_ENST00000591864.1_5'Flank|SRSF2_ENST00000359995.5_Missense_Mutation_p.S220C|MFSD11_ENST00000593181.1_5'Flank|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000590393.1_5'Flank|MFSD11_ENST00000588460.1_5'Flank|MFSD11_ENST00000586622.1_Intron|MFSD11_ENST00000590514.1_5'Flank|MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000336509.4_5'Flank	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	220	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						TTCTTAAGAGGACACCGCTCC	0.483			Mis		"MDS, CLL"																																	ENST00000392485.2				Dom	yes		17	17q25	6427	Mis	serine/arginine-rich splicing factor 2			L			"MDS, CLL"		0				haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						c.(658-660)tCc>tGc		serine/arginine-rich splicing factor 2							72	79	76					17																	74732250		2203	4300	6503	SO:0001583	missense	6427				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity	g.chr17:74732250G>C	M90104	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10783	protein-coding gene	gene with protein product	"SR splicing factor 2"	600813	"splicing factor, arginine/serine-rich 2"	SFRS2		8530103, 20516191	Standard	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	Q01130		ENST00000392485.2:c.659C>G	17.37:g.74732250G>C	ENSP00000376276:p.Ser220Cys					MFSD11_ENST00000586622.1_Intron|RP11-318A15.7_ENST00000587459.1_Intron|SRSF2_ENST00000508921.3_Missense_Mutation_p.S208C|SRSF2_ENST00000359995.5_Missense_Mutation_p.S220C	p.S220C	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN			2	831	-			220			Arg/Ser-rich (RS domain).		B3KWD5|B4DN89|H0YG49	Missense_Mutation	SNP	ENST00000392485.2	37	c.659C>G	CCDS11749.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.81|15.81	2.943346|2.943346	0.53079|0.53079	.|.	.|.	ENSG00000161547|ENSG00000161547	ENST00000452355|ENST00000392485;ENST00000358156;ENST00000359995	.|T;T	.|0.40225	.|1.2;1.04	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	.|0.377447	.|0.22819	.|N	.|0.055250	T|T	0.27134|0.27134	0.0665|0.0665	N|N	0.03608|0.03608	-0.345|-0.345	0.80722|0.80722	D|D	1|1	.|D;D	.|0.58620	.|0.983;0.983	.|B;B	.|0.43783	.|0.431;0.431	T|T	0.43845|0.43845	-0.9366|-0.9366	6|10	0.87932|0.87932	D|D	0|0	.|.	17.9573|17.9573	0.89073|0.89073	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|208;220	.|B4DN89;Q01130	.|.;SRSF2_HUMAN	A|C	170|220;208;200	.|ENSP00000376276:S220C;ENSP00000353089:S200C	ENSP00000391278:P170A|ENSP00000350877:S208C	P|S	-|-	1|2	0|0	SRSF2|SRSF2	72243845|72243845	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.932000|0.932000	0.56968|0.56968	7.517000|7.517000	0.81783|0.81783	2.227000|2.227000	0.72691|0.72691	0.655000|0.655000	0.94253|0.94253	CCT|TCC		0.483	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437489.1	NM_003016		3	146	0	0	0	1	0	3	146					C	74732250	G	C	74732250	3	2	456	1	0	0	0	0	1	0	0	0	14175	1174	41	4	10	4	SFRS2	17	74732250	Missense_Mutation	SNP	G	TCGA-IM-A3EB-01A-11D-A202-08		74732250	6462960	19	9292											
CASP14	23581	broad.mit.edu	37	chr19	15166255	15166255	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaggatacatcgcctacCgacatgatcagaaaggctca	8	13	2	2	rs546136139		TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr19:15166255C>T	ENST00000427043.3	+	6	843	c.535C>T	c.(535-537)Cga>Tga	p.R179*	AC004699.1_ENST00000411269.1_RNA|CASP14_ENST00000221740.1_Nonsense_Mutation_p.R179*	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	179					cornification (GO:0070268)|epidermis development (GO:0008544)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinization (GO:0031424)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)	p.R179*(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						CATCGCCTACCGACATGATCA	0.537													C|||	1	0.000199681	0	0	5008	,	,		18249	0		0.001	False		,,,				2504	0					ENST00000427043.3																			1	Substitution - Nonsense(1)	p.R179*(1)	large_intestine(1)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						c.(535-537)Cga>Tga		caspase 14, apoptosis-related cysteine peptidase							108	93	98					19																	15166255		2203	4300	6503	SO:0001587	stop_gained	23581				apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity	g.chr19:15166255C>T		CCDS12323.1	19p13.1	2008-07-16	2005-08-17			ENSG00000105141			1502	protein-coding gene	gene with protein product	"apoptosis-related cysteine protease"	605848	"caspase 14, apoptosis-related cysteine protease"			10203698, 9792675	Standard	NM_012114		Approved	MICE, MGC119078, MGC119079	uc010dzv.2	P31944		ENST00000427043.3:c.535C>T	19.37:g.15166255C>T	ENSP00000393417:p.Arg179*					CASP14_ENST00000221740.1_Nonsense_Mutation_p.R179*	p.R179*	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN			6	843	+			179					O95823|Q3SYC9	Nonsense_Mutation	SNP	ENST00000427043.3	37	c.535C>T	CCDS12323.1	.	.	.	.	.	.	.	.	.	.	c	18.14	3.557660	0.65425	.	.	ENSG00000105141	ENST00000427043;ENST00000221740	.	.	.	4.5	2.0	0.26442	.	0.224065	0.30940	N	0.008578	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8118	0.34971	0.4818:0.5181:0.0:0.0	.	.	.	.	X	179	.	ENSP00000221740:R179X	R	+	1	2	CASP14	15027255	0.998000	0.40836	0.999000	0.59377	0.061000	0.15899	1.156000	0.31712	0.681000	0.31386	-0.521000	0.04368	CGA		0.537	CASP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465663.1	NM_012114		3	105	0	0	0	1	0	3	105					T	15166255	C	T	15166255	4	4	456	1	0	0	0	0	0	1	0	0	2670	644	23	1	553	1	CASP14	19	15166255	Nonsense_Mutation	SNP	C	TCGA-IM-A3EB-01A-11D-A202-08		15166255	43962728	20	9293											
SAMSN1	64092	broad.mit.edu	37	chr21	15893509	15893509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttttgataaagaattattccGaaaacgatcgaaattcccaa	5	7	0	2			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr21:15893509G>A	ENST00000400566.1	-	2	172	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W	SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000285670.2_Missense_Mutation_p.R99W	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	31					negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GAATTATTCCGAAAACGATCG	0.299																																						ENST00000285670.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24						c.(295-297)Cgg>Tgg		SAM domain, SH3 domain and nuclear localization signals 1							37	35	36					21																	15893509		1803	4063	5866	SO:0001583	missense	64092				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	g.chr21:15893509G>A	AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	10528	protein-coding gene	gene with protein product	"nuclear localization signals, SAM and SH3 domain containing 1", "SAM and SH3 domain containing 2", "hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1", "Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.91C>T	21.37:g.15893509G>A	ENSP00000383411:p.Arg31Trp					SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000400566.1_Missense_Mutation_p.R31W	p.R99W	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)	3	469	-			31					B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Missense_Mutation	SNP	ENST00000400566.1	37	c.295C>T	CCDS42906.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268103	0.59540	.	.	ENSG00000155307	ENST00000285670;ENST00000400566	T;T	0.52983	0.64;0.64	5.48	3.56	0.40772	.	0.111985	0.56097	N	0.000022	T	0.40119	0.1104	L	0.55743	1.74	0.41321	D	0.987173	B;P	0.42039	0.333;0.769	B;B	0.39562	0.061;0.303	T	0.39461	-0.9613	10	0.66056	D	0.02	-13.6929	7.0454	0.25042	0.0869:0.0:0.5832:0.3299	.	99;31	F8WAA1;Q9NSI8	.;SAMN1_HUMAN	W	99;31	ENSP00000285670:R99W;ENSP00000383411:R31W	ENSP00000285670:R99W	R	-	1	2	SAMSN1	14815380	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	2.677000	0.46892	1.304000	0.44892	0.557000	0.71058	CGG		0.299	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1			5	29	0	0	0	1	0	5	29					A	15893509	G	A	15893509	3	1	456	1	0	0	0	0	1	0	0	0	13830	1057	37	1	1058	1	SAMSN1	21	15893509	Missense_Mutation	SNP	G	TCGA-IM-A3EB-01A-11D-A202-08		15893509	32236386	21	9294											
SYNPO2	171024	broad.mit.edu	37	chr4	119944646	119944646	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggagatgaagtggtttccaTcaatggcaacccttgtgcag	13	8	1	2			TCGA-IM-A3ED-01A-11D-A202-08	TCGA-IM-A3ED-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7d3599f-0218-4d1d-aed8-c45c188cd71d	ea16b689-e941-4ea0-ad31-9504e19ed28b	g.chr4:119944646T>G	ENST00000429713.2	+	2	349	c.167T>G	c.(166-168)aTc>aGc	p.I56S	SYNPO2_ENST00000307142.4_Missense_Mutation_p.I56S|SYNPO2_ENST00000448416.2_Missense_Mutation_p.I56S|SYNPO2_ENST00000434046.2_Missense_Mutation_p.I56S	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	56	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GTGGTTTCCATCAATGGCAAC	0.438																																						ENST00000307142.4																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(166-168)aTc>aGc		synaptopodin 2							140	115	123					4																	119944646		2203	4300	6503	SO:0001583	missense	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119944646T>G	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.167T>G	4.37:g.119944646T>G	ENSP00000395143:p.Ile56Ser					SYNPO2_ENST00000434046.2_Missense_Mutation_p.I56S|SYNPO2_ENST00000429713.2_Missense_Mutation_p.I56S|SYNPO2_ENST00000448416.2_Missense_Mutation_p.I56S	p.I56S	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN			2	363	+			56			PDZ.		B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	37	c.167T>G	CCDS47129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.4|24.4	4.523739|4.523739	0.85600|0.85600	.|.	.|.	ENSG00000172403|ENSG00000172403	ENST00000504178|ENST00000307142;ENST00000448416;ENST00000429713;ENST00000434046	.|T;T;T;T	.|0.39592	.|1.07;1.07;1.07;1.07	5.66|5.66	5.66|5.66	0.87406|0.87406	.|PDZ/DHR/GLGF (4);	.|0.000000	.|0.64402	.|D	.|0.000005	T|T	0.68238|0.68238	0.2979|0.2979	M|M	0.85710|0.85710	2.77|2.77	0.52099|0.52099	D|D	0.999942|0.999942	.|D;D;D;D	.|0.89917	.|0.999;0.999;1.0;1.0	.|D;D;D;D	.|0.83275	.|0.984;0.996;0.994;0.99	T|T	0.74166|0.74166	-0.3753|-0.3753	5|10	.|0.87932	.|D	.|0	-20.0087|-20.0087	14.4619|14.4619	0.67456|0.67456	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|56;56;56;56	.|B4E258;Q9UMS6-2;E9PEM2;Q9UMS6	.|.;.;.;SYNP2_HUMAN	Q|S	7|56	.|ENSP00000306015:I56S;ENSP00000412623:I56S;ENSP00000395143:I56S;ENSP00000390965:I56S	.|ENSP00000306015:I56S	H|I	+|+	3|2	2|0	SYNPO2|SYNPO2	120164094|120164094	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.688000|7.688000	0.84153|0.84153	2.144000|2.144000	0.66660|0.66660	0.528000|0.528000	0.53228|0.53228	CAT|ATC		0.438	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			3	80	0	0	0	0.115264	0	3	80					G	119944646	T	G	119944646	3	3	457	1	0	0	0	0	1	0	0	0	15454	1435	50	5	173	5	SYNPO2	4	119944646	Missense_Mutation	SNP	T	TCGA-IM-A3ED-01A-11D-A202-08		119944646	71209630	1	9295											
SLC7A11	23657	broad.mit.edu	37	chr4	139163108	139163108	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtgactttcctcttcagcTgcactttctcctgcccaggt	7	14	3	1			TCGA-IM-A3ED-01A-11D-A202-08	TCGA-IM-A3ED-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7d3599f-0218-4d1d-aed8-c45c188cd71d	ea16b689-e941-4ea0-ad31-9504e19ed28b	g.chr4:139163108T>C	ENST00000280612.5	-	1	395	c.116A>G	c.(115-117)cAg>cGg	p.Q39R		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	39					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|brain development (GO:0007420)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|lens fiber cell differentiation (GO:0070306)|leukocyte migration (GO:0050900)|platelet aggregation (GO:0070527)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	cystine:glutamate antiporter activity (GO:0015327)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				Acetylcysteine(DB06151)|L-Cystine(DB00138)|Riluzole(DB00740)|Rosuvastatin(DB01098)|Sulfasalazine(DB00795)|Tauroursodeoxycholic acid(DB08834)	CCTCTTCAGCTGCACTTTCTC	0.527																																						ENST00000280612.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18						c.(115-117)cAg>cGg		solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)						145	126	133					4																	139163108		2203	4300	6503	SO:0001583	missense	23657				blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding	g.chr4:139163108T>C	AB026891	CCDS3742.1	4q28-q32	2013-05-22	2011-07-12		ENSG00000151012	ENSG00000151012		"Solute carriers"	11059	protein-coding gene	gene with protein product		607933				10206947, 12763038	Standard	XM_005262875		Approved	xCT	uc021xrw.1	Q9UPY5	OTTHUMG00000133396	ENST00000280612.5:c.116A>G	4.37:g.139163108T>C	ENSP00000280612:p.Gln39Arg						p.Q39R	NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN			1	395	-	all_hematologic(180;0.166)		39					A8K2U4	Missense_Mutation	SNP	ENST00000280612.5	37	c.116A>G	CCDS3742.1	.	.	.	.	.	.	.	.	.	.	T	7.896	0.733404	0.15574	.	.	ENSG00000151012	ENST00000280612	D	0.90385	-2.66	6.03	2.29	0.28610	.	0.226724	0.44688	D	0.000438	T	0.75554	0.3865	N	0.08118	0	0.23720	N	0.997025	B	0.02656	0.0	B	0.04013	0.001	T	0.59359	-0.7469	10	0.15952	T	0.53	.	6.1168	0.20132	0.7431:0.0:0.1319:0.125	.	39	Q9UPY5	XCT_HUMAN	R	39	ENSP00000280612:Q39R	ENSP00000280612:Q39R	Q	-	2	0	SLC7A11	139382558	0.973000	0.33851	0.941000	0.38009	0.624000	0.37722	2.953000	0.49105	0.175000	0.19841	-1.142000	0.01873	CAG		0.527	SLC7A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257251.2			3	91	0	0	0	0.184627	0	3	91					C	139163108	T	C	139163108	3	2	457	1	0	0	0	0	1	0	0	0	14694	1580	55	3	1437	3	SLC7A11	4	139163108	Missense_Mutation	SNP	T	TCGA-IM-A3ED-01A-11D-A202-08	19218462	139163108	51991168	2	9296											
PRDM9	56979	broad.mit.edu	37	chr5	23527796	23527796	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtctgcagggagtgtgggCggggctttagcgataggtca	18	7	2	0			TCGA-IM-A3ED-01A-11D-A202-08	TCGA-IM-A3ED-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7d3599f-0218-4d1d-aed8-c45c188cd71d	ea16b689-e941-4ea0-ad31-9504e19ed28b	g.chr5:23527796C>T	ENST00000296682.3	+	11	2781	c.2599C>T	c.(2599-2601)Cgg>Tgg	p.R867W		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	867					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGAGTGTGGGCGGGGCTTTAG	0.562										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(2599-2601)Cgg>Tgg		PR domain containing 9							68	76	74					5																	23527796		2181	4298	6479	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527796C>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2599C>T	5.37:g.23527796C>T	ENSP00000296682:p.Arg867Trp	HNSCC(3;0.000094)					p.R867W	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			11	2781	+			867					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.2599C>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	6.891	0.533934	0.13188	.	.	ENSG00000164256	ENST00000296682	T	0.19806	2.12	2.05	-1.05	0.10036	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26629	0.0651	M	0.90252	3.1	0.09310	N	1	B	0.21688	0.059	B	0.21546	0.035	T	0.40608	-0.9554	9	0.52906	T	0.07	-0.9186	2.6772	0.05084	0.2161:0.3368:0.0:0.4471	.	867	Q9NQV7	PRDM9_HUMAN	W	867	ENSP00000296682:R867W	ENSP00000296682:R867W	R	+	1	2	PRDM9	23563553	0.036000	0.19791	0.052000	0.19188	0.022000	0.10575	1.395000	0.34520	-0.280000	0.09154	0.472000	0.43445	CGG		0.562	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		34	82	0	0	0	0.769981	0	34	82					T	23527796	C	T	23527796	3	4	457	1	0	0	0	0	1	0	0	0	12463	759	27	1	2637	1	PRDM9	5	23527796	Missense_Mutation	SNP	C	TCGA-IM-A3ED-01A-11D-A202-08		23527796	157387464	3	9297											
CLIC5	53405	broad.mit.edu	37	chr6	45917096	45917096	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgggtgcgtgccgggggctaGgttgtgcaggtcagctggct	20	9	1	0			TCGA-IM-A3ED-01A-11D-A202-08	TCGA-IM-A3ED-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7d3599f-0218-4d1d-aed8-c45c188cd71d	ea16b689-e941-4ea0-ad31-9504e19ed28b	g.chr6:45917096G>C	ENST00000185206.6	-	3	825	c.673C>G	c.(673-675)Cta>Gta	p.L225V	CLIC5_ENST00000544153.1_Missense_Mutation_p.L66V|CLIC5_ENST00000339561.6_Missense_Mutation_p.L66V	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	225					auditory receptor cell stereocilium organization (GO:0060088)|chloride transport (GO:0006821)|diet induced thermogenesis (GO:0002024)|female pregnancy (GO:0007565)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	actin cytoskeleton (GO:0015629)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|stereocilium (GO:0032420)	voltage-gated chloride channel activity (GO:0005247)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						CCGGGGGCTAGGTTGTGCAGG	0.542																																						ENST00000185206.6																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						c.(673-675)Cta>Gta		chloride intracellular channel 5							142	133	136					6																	45917096		2203	4300	6503	SO:0001583	missense	53405				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity	g.chr6:45917096G>C	AF216941	CCDS4914.1, CCDS47438.1, CCDS59022.1	6p12.3	2014-03-14			ENSG00000112782	ENSG00000112782		"Ion channels / Chloride channels : Intracellular"	13517	protein-coding gene	gene with protein product		607293				10793131	Standard	NM_001114086		Approved		uc003oxv.3	Q9NZA1	OTTHUMG00000014775	ENST00000185206.6:c.673C>G	6.37:g.45917096G>C	ENSP00000185206:p.Leu225Val					CLIC5_ENST00000339561.6_Missense_Mutation_p.L66V|CLIC5_ENST00000544153.1_Missense_Mutation_p.L66V	p.L225V	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN			3	825	-			225					B3KUF1|Q5T4Z0|Q8NBY3|Q96JT5|Q9BWZ0	Missense_Mutation	SNP	ENST00000185206.6	37	c.673C>G	CCDS47438.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797117	0.70567	.	.	ENSG00000112782	ENST00000185206;ENST00000339561;ENST00000544153	T;T;T	0.49432	0.78;0.78;0.78	5.73	4.85	0.62838	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.40886	0.1135	L	0.45744	1.44	0.52501	D	0.999951	P;P;P	0.49559	0.925;0.684;0.925	P;P;P	0.55345	0.774;0.694;0.774	T	0.40776	-0.9545	10	0.56958	D	0.05	-22.768	6.9158	0.24359	0.2233:0.0:0.7767:0.0	.	66;225;66	Q8NBY3;Q9NZA1;Q53G01	.;CLIC5_HUMAN;.	V	225;66;66	ENSP00000185206:L225V;ENSP00000344165:L66V;ENSP00000439195:L66V	ENSP00000185206:L225V	L	-	1	2	CLIC5	46025074	1.000000	0.71417	0.998000	0.56505	0.931000	0.56810	3.869000	0.56062	2.854000	0.98071	0.655000	0.94253	CTA		0.542	CLIC5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040761.1			48	80	0	0	0	0.870114	0	48	80					C	45917096	G	C	45917096	3	2	457	1	0	0	0	0	1	0	0	0	3529	991	35	4	575	4	CLIC5	6	45917096	Missense_Mutation	SNP	G	TCGA-IM-A3ED-01A-11D-A202-08		45917096	125197971	4	9298											
LCA5	167691	broad.mit.edu	37	chr6	80228599	80228599	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcagtacctggacttcctgCtctttcccccattgttttga	6	13	2	1			TCGA-IM-A3ED-01A-11D-A202-08	TCGA-IM-A3ED-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7d3599f-0218-4d1d-aed8-c45c188cd71d	ea16b689-e941-4ea0-ad31-9504e19ed28b	g.chr6:80228599C>T	ENST00000392959.1	-	3	624	c.13G>A	c.(13-15)Gca>Aca	p.A5T	LCA5_ENST00000467898.3_Missense_Mutation_p.A5T|LCA5_ENST00000369846.4_Missense_Mutation_p.A5T	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	5					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		GGACTTCCTGCTCTTTCCCCC	0.388																																						ENST00000392959.1																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32						c.(13-15)Gca>Aca		Leber congenital amaurosis 5							294	280	284					6																	80228599		2203	4300	6503	SO:0001583	missense	167691				protein transport	cilium axoneme|microtubule basal body	protein binding	g.chr6:80228599C>T		CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"lebercilin"	611408	"chromosome 6 open reading frame 152"	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.13G>A	6.37:g.80228599C>T	ENSP00000376686:p.Ala5Thr					LCA5_ENST00000369846.4_Missense_Mutation_p.A5T|LCA5_ENST00000467898.2_Missense_Mutation_p.A5T	p.A5T	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0657)	3	624	-		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)	5					E1P542|Q9BWX7	Missense_Mutation	SNP	ENST00000392959.1	37	c.13G>A	CCDS4990.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.232577	0.39498	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	T;T	0.33216	1.42;1.42	5.28	4.38	0.52667	.	0.595355	0.16631	N	0.206071	T	0.10981	0.0268	N	0.22421	0.69	0.33588	D	0.600789	B;P	0.35272	0.16;0.493	B;B	0.34242	0.082;0.178	T	0.08310	-1.0728	10	0.33940	T	0.23	-1.4967	12.9015	0.58128	0.1612:0.8388:0.0:0.0	.	5;5	B4DRL2;Q86VQ0	.;LCA5_HUMAN	T	5	ENSP00000358861:A5T;ENSP00000376686:A5T	ENSP00000358861:A5T	A	-	1	0	LCA5	80285318	0.379000	0.25123	0.957000	0.39632	0.608000	0.37181	0.032000	0.13732	2.736000	0.93811	0.655000	0.94253	GCA		0.388	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714		65	174	0	0	0	0.870114	0	65	174					T	80228599	C	T	80228599	3	4	457	1	0	0	0	0	1	0	0	0	8656	797	28	2	2108	2	LCA5	6	80228599	Missense_Mutation	SNP	C	TCGA-IM-A3ED-01A-11D-A202-08	34311503	80228599	90886468	5	9299											
KLHL32	114792	broad.mit.edu	37	chr6	97561919	97561919	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actctgtatatcattggtggGaaaaagcgcgaggtctgcaa	12	7	3	0			TCGA-IM-A3ED-01A-11D-A202-08	TCGA-IM-A3ED-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7d3599f-0218-4d1d-aed8-c45c188cd71d	ea16b689-e941-4ea0-ad31-9504e19ed28b	g.chr6:97561919G>A	ENST00000369261.4	+	7	1251	c.888G>A	c.(886-888)ggG>ggA	p.G296G	KLHL32_ENST00000539200.1_Silent_p.G227G|KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000536676.1_Silent_p.G260G	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	296										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TCATTGGTGGGAAAAAGCGCG	0.517																																						ENST00000369261.4																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(886-888)ggG>ggA		kelch-like family member 32							76	73	74					6																	97561919		2203	4300	6503	SO:0001819	synonymous_variant	114792							g.chr6:97561919G>A	AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"Kelch-like", "BTB/POZ domain containing"	21221	protein-coding gene	gene with protein product			"BTB and kelch domain containing 5", "KIAA1900", "kelch-like 32 (Drosophila)"	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.888G>A	6.37:g.97561919G>A						KLHL32_ENST00000536676.1_Silent_p.G260G|KLHL32_ENST00000539200.1_Silent_p.G227G|KLHL32_ENST00000544166.1_Intron	p.G296G	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0558)	7	1251	+		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)	296					B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Silent	SNP	ENST00000369261.4	37	c.888G>A	CCDS5038.1																																																																																				0.517	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904		18	44	0	0	0	0.557998	0	18	44					A	97561919	G	A	97561919	2	1	457	1	0	0	0	0	0	0	0	1	8386	1161	41	2		2	KLHL32	6	97561919	Silent	SNP	G	TCGA-IM-A3ED-01A-11D-A202-08	17333320	97561919	73553148	6	9300											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-IM-A3ED-01A-11D-A202-08	TCGA-IM-A3ED-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7d3599f-0218-4d1d-aed8-c45c188cd71d	ea16b689-e941-4ea0-ad31-9504e19ed28b	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		25	61	0	0	0	0.654019	0	25	61					T	140453136	A	T	140453136	3	4	457	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-IM-A3ED-01A-11D-A202-08		140453136	18685527	7	9301											
EPHB6	2051	broad.mit.edu	37	chr7	142565403	142565403	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccggaaagactctccttggtGatcggctccatcctgggggc	13	13	1	2			TCGA-IM-A3ED-01A-11D-A202-08	TCGA-IM-A3ED-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7d3599f-0218-4d1d-aed8-c45c188cd71d	ea16b689-e941-4ea0-ad31-9504e19ed28b	g.chr7:142565403G>C	ENST00000392957.2	+	12	2575	c.1788G>C	c.(1786-1788)gtG>gtC	p.V596V	EPHB6_ENST00000442129.1_Silent_p.V596V|EPHB6_ENST00000411471.2_Silent_p.V319V	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	596						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TCTCCTTGGTGATCGGCTCCA	0.637																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(1786-1788)gtG>gtC		EPH receptor B6							60	58	58					7																	142565403		2203	4300	6503	SO:0001819	synonymous_variant	0					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142565403G>C	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.1788G>C	7.37:g.142565403G>C						EPHB6_ENST00000411471.2_Silent_p.V319V|EPHB6_ENST00000442129.1_Silent_p.V596V	p.V596V	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			12	2575	+	Melanoma(164;0.059)		596					A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	ENST00000392957.2	37	c.1788G>C	CCDS5873.2																																																																																				0.637	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			10	12	0	0	0	0.38729	0	10	12					C	142565403	G	C	142565403	2	2	457	1	0	0	0	0	0	0	0	1	5178	1277	45	4		4	EPHB6	7	142565403	Silent	SNP	G	TCGA-IM-A3ED-01A-11D-A202-08	2112267	142565403	16573260	8	9302											
GRIN3A	116443	broad.mit.edu	37	chr9	104432410	104432410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgacagcagccaagtttgCcgtgtatgtggaaaggcaaa	12	8	0	1			TCGA-IM-A3ED-01A-11D-A202-08	TCGA-IM-A3ED-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7d3599f-0218-4d1d-aed8-c45c188cd71d	ea16b689-e941-4ea0-ad31-9504e19ed28b	g.chr9:104432410C>T	ENST00000361820.3	-	3	2884	c.2284G>A	c.(2284-2286)Gca>Aca	p.A762T		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	762					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)	GCCAAGTTTGCCGTGTATGTG	0.418																																						ENST00000361820.3																			0				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						c.(2284-2286)Gca>Aca		glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						87	84	85					9																	104432410		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104432410C>T		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.2284G>A	9.37:g.104432410C>T	ENSP00000355155:p.Ala762Thr						p.A762T	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN			3	2884	-		Acute lymphoblastic leukemia(62;0.0568)	762					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.2284G>A	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724824	0.89298	.	.	ENSG00000198785	ENST00000361820	T	0.74315	-0.83	5.43	5.43	0.79202	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	D	0.89993	0.6876	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91847	0.5488	10	0.87932	D	0	.	19.6103	0.95602	0.0:1.0:0.0:0.0	.	762	Q8TCU5	NMD3A_HUMAN	T	762	ENSP00000355155:A762T	ENSP00000355155:A762T	A	-	1	0	GRIN3A	103472231	1.000000	0.71417	0.956000	0.39512	0.989000	0.77384	7.776000	0.85560	2.718000	0.92993	0.585000	0.79938	GCA		0.418	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			3	78	0	0	0	0.115264	0	3	78					T	104432410	C	T	104432410	3	4	457	1	0	0	0	0	1	0	0	0	6783	739	26	2	1091	2	GRIN3A	9	104432410	Missense_Mutation	SNP	C	TCGA-IM-A3ED-01A-11D-A202-08		104432410	36781021	9	9303											
CACNA1B	774	broad.mit.edu	37	chr9	140953611	140953611	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatgttctccatggaatgCgtgctgaagatcatcgcctt	9	11	2	2	rs575117282		TCGA-IM-A3ED-01A-11D-A202-08	TCGA-IM-A3ED-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7d3599f-0218-4d1d-aed8-c45c188cd71d	ea16b689-e941-4ea0-ad31-9504e19ed28b	g.chr9:140953611C>T	ENST00000371372.1	+	30	4699	c.4554C>T	c.(4552-4554)tgC>tgT	p.C1518C	CACNA1B_ENST00000371357.1_Silent_p.C1519C|CACNA1B_ENST00000277551.2_Silent_p.C1518C|CACNA1B_ENST00000371363.1_Silent_p.C1518C|CACNA1B_ENST00000277549.5_Silent_p.C714C|CACNA1B_ENST00000371355.4_Silent_p.C1519C	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1518					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CCATGGAATGCGTGCTGAAGA	0.507													C|||	1	0.000199681	8e-04	0	5008	,	,		22159	0		0	False		,,,				2504	0					ENST00000277549.5																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(2140-2142)tgC>tgT		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						136	129	131					9																	140953611		2147	4245	6392	SO:0001819	synonymous_variant	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140953611C>T	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.4554C>T	9.37:g.140953611C>T						CACNA1B_ENST00000371357.1_Silent_p.C1519C|CACNA1B_ENST00000371355.4_Silent_p.C1519C|CACNA1B_ENST00000371363.1_Silent_p.C1518C|CACNA1B_ENST00000371372.1_Silent_p.C1518C|CACNA1B_ENST00000277551.2_Silent_p.C1518C	p.C714C			Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	31	4711	+	all_cancers(76;0.166)		1518					B1AQK5	Silent	SNP	ENST00000371372.1	37	c.2142C>T	CCDS59522.1																																																																																				0.507	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		13	15	0	0	0	0.457914	0	13	15					T	140953611	C	T	140953611	2	4	457	1	0	0	0	0	0	0	0	1	2539	776	27	1		1	CACNA1B	9	140953611	Silent	SNP	C	TCGA-IM-A3ED-01A-11D-A202-08	36521201	140953611	259820	10	9304											
ANK3	288	broad.mit.edu	37	chr10	61835632	61835632	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttaaaggtgaagatattagCggtgctgctgatgtaataat	11	3	0	3			TCGA-IM-A3ED-01A-11D-A202-08	TCGA-IM-A3ED-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7d3599f-0218-4d1d-aed8-c45c188cd71d	ea16b689-e941-4ea0-ad31-9504e19ed28b	g.chr10:61835632C>T	ENST00000280772.2	-	37	5198	c.5007G>A	c.(5005-5007)ccG>ccA	p.P1669P	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1669	Ser-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AAGATATTAGCGGTGCTGCTG	0.393																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(5005-5007)ccG>ccA		ankyrin 3, node of Ranvier (ankyrin G)							127	121	123					10																	61835632		2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61835632C>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.5007G>A	10.37:g.61835632C>T						ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	p.P1669P	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	5198	-			1669			Ser-rich.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.5007G>A	CCDS7258.1																																																																																				0.393	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		27	77	0	0	0	0.706142	0	27	77					T	61835632	C	T	61835632	2	4	457	1	0	0	0	0	0	0	0	1	622	755	27	1		1	ANK3	10	61835632	Silent	SNP	C	TCGA-IM-A3ED-01A-11D-A202-08		61835632	73699115	11	9305											
TMEM132A	54972	broad.mit.edu	37	chr11	60694815	60694815	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgagctcccgatctgagacCtttctgctcctacagccctg	8	16	2	2			TCGA-IM-A3ED-01A-11D-A202-08	TCGA-IM-A3ED-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7d3599f-0218-4d1d-aed8-c45c188cd71d	ea16b689-e941-4ea0-ad31-9504e19ed28b	g.chr11:60694815C>A	ENST00000453848.2	+	2	398	c.240C>A	c.(238-240)acC>acA	p.T80T	TMEM132A_ENST00000005286.4_Silent_p.T80T|RP11-881M11.4_ENST00000543907.1_RNA			Q24JP5	T132A_HUMAN	transmembrane protein 132A	80						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GATCTGAGACCTTTCTGCTCC	0.647																																						ENST00000005286.4																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						c.(238-240)acC>acA		transmembrane protein 132A							50	55	53					11																	60694815		2203	4299	6502	SO:0001819	synonymous_variant	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60694815C>A	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.240C>A	11.37:g.60694815C>A						TMEM132A_ENST00000453848.2_Silent_p.T80T	p.T80T	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN			2	393	+			80					Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Silent	SNP	ENST00000453848.2	37	c.240C>A	CCDS44618.1																																																																																				0.647	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		4	127	1	0	0.000602214	0.184627	0.000697301	4	127					A	60694815	C	A	60694815	2	1	457	1	0	0	0	0	0	0	0	1	16042	668	24	4		4	TMEM132A	11	60694815	Silent	SNP	C	TCGA-IM-A3ED-01A-11D-A202-08		60694815	74311701	12	9306											
FBXW8	26259	broad.mit.edu	37	chr12	117402520	117402520	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agatatacatcaggggatgtGagagtgtgggacacccgcac	14	8	1	2	rs200172747		TCGA-IM-A3ED-01A-11D-A202-08	TCGA-IM-A3ED-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7d3599f-0218-4d1d-aed8-c45c188cd71d	ea16b689-e941-4ea0-ad31-9504e19ed28b	g.chr12:117402520G>A	ENST00000309909.5	+	5	778	c.696G>A	c.(694-696)gtG>gtA	p.V232V	FBXW8_ENST00000455858.2_Silent_p.V166V			Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	232					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|labyrinthine layer blood vessel development (GO:0060716)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|spongiotrophoblast layer development (GO:0060712)	Cul7-RING ubiquitin ligase complex (GO:0031467)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		CAGGGGATGTGAGAGTGTGGG	0.522																																						ENST00000455858.2																			0				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22						c.(496-498)gtG>gtA		F-box and WD repeat domain containing 8							221	207	212					12																	117402520		2203	4300	6503	SO:0001819	synonymous_variant	26259						protein binding	g.chr12:117402520G>A	AF176707	CCDS9182.1, CCDS44988.1	12q24.23	2013-01-09	2007-02-08	2003-06-13				"F-boxes / WD-40 domains", "WD repeat domain containing"	13597	protein-coding gene	gene with protein product		609073	"F-box only protein 29", "F-box and WD-40 domain protein 8"	FBXO29		10531035, 10531037	Standard	NM_012174		Approved	FBX29, FBW6, FBW8	uc001twg.1	Q8N3Y1	OTTHUMG00000169329	ENST00000309909.5:c.696G>A	12.37:g.117402520G>A						FBXW8_ENST00000309909.5_Silent_p.V232V	p.V166V	NM_012174.1|NM_153348.2	NP_036306.1|NP_699179.2	Q8N3Y1	FBXW8_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0353)	5	571	+	all_neural(191;0.117)|Medulloblastoma(191;0.163)		232					Q9UK95	Silent	SNP	ENST00000309909.5	37	c.498G>A	CCDS9182.1																																																																																				0.522	FBXW8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403561.1	NM_012174		75	183	0	0	0	0.870114	0	75	183					A	117402520	G	A	117402520	2	1	457	1	0	0	0	0	0	0	0	1	5770	1277	45	2		2	FBXW8	12	117402520	Silent	SNP	G	TCGA-IM-A3ED-01A-11D-A202-08		117402520	16449375	13	9307											
MIA2	117153	broad.mit.edu	37	chr14	39716388	39716388	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaagtagttgttgaaagtAtggaacaggatcgtattcca	11	4	0	2			TCGA-IM-A3ED-01A-11D-A202-08	TCGA-IM-A3ED-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7d3599f-0218-4d1d-aed8-c45c188cd71d	ea16b689-e941-4ea0-ad31-9504e19ed28b	g.chr14:39716388A>G	ENST00000280082.3	+	4	809	c.610A>G	c.(610-612)Atg>Gtg	p.M204V	MIA2_ENST00000556784.1_Missense_Mutation_p.M203V|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.M204V	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	204					cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576)				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		TGTTGAAAGTATGGAACAGGA	0.433																																						ENST00000553728.1																			0											c.(610-612)Atg>Gtg									91	91	91					14																	39716388		2203	4300	6503	SO:0001583	missense	0							g.chr14:39716388A>G	BC035981	CCDS9672.1	14q13.2	2007-05-01			ENSG00000150526	ENSG00000150526			18432	protein-coding gene	gene with protein product		608001				12586826	Standard	NM_054024		Approved	FLJ22404	uc001wux.3	Q96PC5	OTTHUMG00000028831	ENST00000280082.3:c.610A>G	14.37:g.39716388A>G	ENSP00000280082:p.Met204Val					MIA2_ENST00000280082.3_Missense_Mutation_p.M204V|MIA2_ENST00000556784.1_Missense_Mutation_p.M203V	p.M204V							4	823	+								A1L4H0|Q9H6C1	Missense_Mutation	SNP	ENST00000280082.3	37	c.610A>G	CCDS9672.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.287599	0.00248	.	.	ENSG00000150526;ENSG00000150526;ENSG00000258941	ENST00000280082;ENST00000556784;ENST00000553728	T;T;T	0.39592	1.07;1.08;3.39	5.11	-7.15	0.01521	.	0.886036	0.09343	N	0.815131	T	0.13157	0.0319	N	0.03177	-0.4	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24404	-1.0161	9	.	.	.	-27.3092	4.6197	0.12444	0.5145:0.1859:0.2194:0.0802	.	204;204	Q96PC5;Q96PC5-2	MIA2_HUMAN;.	V	204;203;204	ENSP00000280082:M204V;ENSP00000451934:M203V;ENSP00000452252:M204V	.	M	+	1	0	MIA2;RP11-407N17.3	38786139	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.661000	0.05311	-1.110000	0.02992	-0.132000	0.14878	ATG		0.433	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276768.3	NM_054024		3	79	0	0	0	0.150653	0	3	79					G	39716388	A	G	39716388	3	3	457	1	0	0	0	0	1	0	0	0	9564	449	16	3	624	3	MIA2	14	39716388	Missense_Mutation	SNP	A	TCGA-IM-A3ED-01A-11D-A202-08		39716388	67633152	14	9308											
NOTCH3	4854	broad.mit.edu	37	chr19	15289709	15289709	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cactggcctccatgctggcaTggctgggactcgcagggaga	15	12	0	1			TCGA-IM-A3ED-01A-11D-A202-08	TCGA-IM-A3ED-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7d3599f-0218-4d1d-aed8-c45c188cd71d	ea16b689-e941-4ea0-ad31-9504e19ed28b	g.chr19:15289709T>A	ENST00000263388.2	-	23	3837	c.3762A>T	c.(3760-3762)ccA>ccT	p.P1254P		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1254	EGF-like 32. {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)			CATGCTGGCATGGCTGGGACT	0.652																																						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.(3760-3762)ccA>ccT		notch 3							38	36	37					19																	15289709		2201	4299	6500	SO:0001819	synonymous_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.chr19:15289709T>A	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.3762A>T	19.37:g.15289709T>A							p.P1254P	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)		23	3837	-			1254			EGF-like 32.		Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	c.3762A>T	CCDS12326.1																																																																																				0.652	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		5	12	0	0	0	0.217242	0	5	12					A	15289709	T	A	15289709	2	1	457	1	0	0	0	0	0	0	0	1	10550	1451	51	5		5	NOTCH3	19	15289709	Silent	SNP	T	TCGA-IM-A3ED-01A-11D-A202-08		15289709	43839274	15	9309											
ERRFI1	54206	broad.mit.edu	37	chr1	8074413	8074413	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttttgagatggaccattttcTgcaaagcagtggccattcat	9	8	2	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:8074413T>A	ENST00000377482.5	-	4	469	c.246A>T	c.(244-246)gcA>gcT	p.A82A	ERRFI1_ENST00000469499.1_Nonsense_Mutation_p.R57*|ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000467067.1_3'UTR	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	82					lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589)	cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		GACCATTTTCTGCAAAGCAGT	0.443																																						ENST00000469499.1																			0				breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16						c.(169-171)Aga>Tga		ERBB receptor feedback inhibitor 1							114	119	117					1																	8074413		2200	4292	6492	SO:0001819	synonymous_variant	54206				lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity	g.chr1:8074413T>A	BC025337	CCDS94.1	1p36.23	2008-02-05			ENSG00000116285	ENSG00000116285			18185	protein-coding gene	gene with protein product		608069				10749885, 2780291, 12226756, 11003669	Standard	NM_018948		Approved	MIG-6, GENE-33, RALT	uc001aoz.3	Q9UJM3	OTTHUMG00000001221	ENST00000377482.5:c.246A>T	1.37:g.8074413T>A						ERRFI1_ENST00000467067.1_3'UTR|ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000377482.5_Silent_p.A82A	p.R57*			Q9UJM3	ERRFI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)	3	380	-	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	0					B2RDX9|Q9NTG9|Q9UD05	Nonsense_Mutation	SNP	ENST00000377482.5	37	c.169A>T	CCDS94.1																																																																																				0.443	ERRFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003617.1	NM_018948		4	256	0	0	0	1	0	4	256					A	8074413	T	A	8074413	2	1	458	1	0	0	0	0	0	0	0	1	5244	1567	55	5		5	ERRFI1	1	8074413	Silent	SNP	T	TCGA-IM-A3U2-01A-21D-A22D-08		8074413	241176208	1	9310											
ELOVL1	64834	broad.mit.edu	37	chr1	43830608	43830608	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccctacttaccctaagtgcCtcagggctgttggaatagtc	9	13	1	0			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:43830608C>G	ENST00000372458.3	-	4	426	c.309G>C	c.(307-309)gaG>gaC	p.E103D	ELOVL1_ENST00000470769.1_5'UTR|ELOVL1_ENST00000413844.2_Intron	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	Q9BW60	ELOV1_HUMAN	ELOVL fatty acid elongase 1	103					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCCTAAGTGCCTCAGGGCTGT	0.557																																						ENST00000372458.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4						c.(307-309)gaG>gaC		ELOVL fatty acid elongase 1							50	47	48					1																	43830608		2203	4300	6503	SO:0001583	missense	64834				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	fatty acid elongase activity|protein binding	g.chr1:43830608C>G	AK001653	CCDS485.1, CCDS57987.1	1p34	2011-05-25	2011-05-25		ENSG00000066322	ENSG00000066322			14418	protein-coding gene	gene with protein product		611813	"elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1"				Standard	NM_022821		Approved	Ssc1	uc031pmf.1	Q9BW60	OTTHUMG00000007422	ENST00000372458.3:c.309G>C	1.37:g.43830608C>G	ENSP00000361536:p.Glu103Asp					ELOVL1_ENST00000413844.2_Intron|ELOVL1_ENST00000470769.1_5'UTR	p.E103D	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	Q9BW60	ELOV1_HUMAN			4	426	-	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	103					B4DP24|Q53HT2|Q5JUY3|Q8WXU3|Q9NVD9|Q9Y396	Missense_Mutation	SNP	ENST00000372458.3	37	c.309G>C	CCDS485.1	.	.	.	.	.	.	.	.	.	.	C	6.398	0.441551	0.12164	.	.	ENSG00000066322	ENST00000372458	T	0.22336	1.96	5.77	2.89	0.33648	.	0.208186	0.51477	D	0.000086	T	0.10465	0.0256	N	0.11313	0.125	0.80722	D	1	B	0.29805	0.257	B	0.36030	0.216	T	0.21621	-1.0240	10	0.13470	T	0.59	.	6.4151	0.21712	0.128:0.665:0.0:0.207	.	103	Q9BW60	ELOV1_HUMAN	D	103	ENSP00000361536:E103D	ENSP00000361536:E103D	E	-	3	2	ELOVL1	43603195	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.990000	0.29642	0.357000	0.24183	-0.793000	0.03317	GAG		0.557	ELOVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019496.1	NM_022821		15	30	0	0	0	1	0	15	30					G	43830608	C	G	43830608	3	3	458	1	0	0	0	0	1	0	0	0	5073	680	24	4	550	4	ELOVL1	1	43830608	Missense_Mutation	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08	35756195	43830608	205420013	2	9311											
ADAM30	11085	broad.mit.edu	37	chr1	120436924	120436924	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgacgagggaatcgcccctCtgagcagtcctggaggccca	13	13	1	2			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:120436924C>A	ENST00000369400.1	-	1	2194	c.2036G>T	c.(2035-2037)aGa>aTa	p.R679I		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	679					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AATCGCCCCTCTGAGCAGTCC	0.468																																						ENST00000369400.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38						c.(2035-2037)aGa>aTa		ADAM metallopeptidase domain 30							63	62	62					1																	120436924		2203	4300	6503	SO:0001583	missense	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120436924C>A	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"ADAM metallopeptidase domain containing"	208	protein-coding gene	gene with protein product		604779	"a disintegrin and metalloproteinase domain 30"				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.2036G>T	1.37:g.120436924C>A	ENSP00000358407:p.Arg679Ile						p.R679I	NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	2194	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	679					A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	c.2036G>T	CCDS907.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.489260	0.26686	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.01234	5.13	5.05	-10.1	0.00402	.	.	.	.	.	T	0.00356	0.0011	L	0.42245	1.32	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.47886	-0.9082	9	0.39692	T	0.17	.	1.978	0.03420	0.2494:0.3937:0.0882:0.2687	.	679	Q9UKF2	ADA30_HUMAN	I	679	ENSP00000358407:R679I	ENSP00000358407:R679I	R	-	2	0	ADAM30	120238447	.	.	0.000000	0.03702	0.002000	0.02628	.	.	-1.750000	0.01328	-0.150000	0.13652	AGA		0.468	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		3	98	1	0	0.115264	1	0.115264	3	98					A	120436924	C	A	120436924	3	1	458	1	0	0	0	0	1	0	0	0	248	913	32	4	340	4	ADAM30	1	120436924	Missense_Mutation	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08	76606316	120436924	128813697	3	9312											
SETDB1	9869	broad.mit.edu	37	chr1	150936158	150936158	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacgccaattctatgatggcGaggagtcttgctacatcatt	9	10	3	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:150936158G>A	ENST00000271640.5	+	20	3800	c.3610G>A	c.(3610-3612)Gag>Aag	p.E1204K	CERS2_ENST00000345896.4_5'Flank|RP11-316M1.12_ENST00000560481.1_RNA|CERS2_ENST00000561294.1_3'UTR|RP11-316M1.12_ENST00000561111.1_RNA|SETDB1_ENST00000368969.4_Missense_Mutation_p.E1204K	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1204	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTATGATGGCGAGGAGTCTTG	0.517																																						ENST00000271640.5																			0				NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(3610-3612)Gag>Aag		SET domain, bifurcated 1							146	134	138					1																	150936158		2203	4300	6503	SO:0001583	missense	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150936158G>A	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"Chromatin-modifying enzymes / K-methyltransferases", "Tudor domain containing"	10761	protein-coding gene	gene with protein product	"tudor domain containing 21"	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.3610G>A	1.37:g.150936158G>A	ENSP00000271640:p.Glu1204Lys					SETDB1_ENST00000368969.4_Missense_Mutation_p.E1204K|CERS2_ENST00000561294.1_3'UTR	p.E1204K	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		20	3800	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		1204			SET.		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	c.3610G>A	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	G	36	5.836373	0.97009	.	.	ENSG00000143379	ENST00000271640;ENST00000368969;ENST00000498193	D;D;D	0.82255	-1.59;-1.59;-1.59	5.65	5.65	0.86999	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.84506	0.5487	L	0.35542	1.07	0.80722	D	1	D;P;D	0.89917	1.0;0.938;0.999	D;P;D	0.83275	0.996;0.719;0.995	T	0.82041	-0.0654	10	0.31617	T	0.26	.	19.7163	0.96122	0.0:0.0:1.0:0.0	.	1204;1204;1204	E9PRF4;Q15047-3;Q15047	.;.;SETB1_HUMAN	K	1204	ENSP00000271640:E1204K;ENSP00000357965:E1204K;ENSP00000432348:E1204K	ENSP00000271640:E1204K	E	+	1	0	SETDB1	149202782	1.000000	0.71417	0.987000	0.45799	0.937000	0.57800	9.806000	0.99153	2.667000	0.90743	0.455000	0.32223	GAG		0.517	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			129	148	0	0	0	1	0	129	148					A	150936158	G	A	150936158	3	1	458	1	0	0	0	0	1	0	0	0	14138	1059	37	1	3684	1	SETDB1	1	150936158	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	30499234	150936158	98314463	4	9313											
FLG	2312	broad.mit.edu	37	chr1	152275908	152275908	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctggagccgtctcctgaCtgttcctcattacgtgtttc	9	13	2	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:152275908C>T	ENST00000368799.1	-	3	11489	c.11454G>A	c.(11452-11454)caG>caA	p.Q3818Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3818	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTCTCCTGACTGTTCCTCAT	0.582									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(11452-11454)caG>caA		filaggrin							353	347	349					1																	152275908		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152275908C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11454G>A	1.37:g.152275908C>T						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.Q3818Q	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11489	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3818			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.11454G>A	CCDS30860.1																																																																																				0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		5	611	0	0	0	1	0	5	611					T	152275908	C	T	152275908	2	4	458	1	0	0	0	0	0	0	0	1	5922	564	20	2		2	FLG	1	152275908	Silent	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08	1339750	152275908	96974713	5	9314											
ASH1L	55870	broad.mit.edu	37	chr1	155307970	155307970	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgttcctcaggggtacaggTtgactggggttcttgactac	13	9	2	2			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:155307970T>C	ENST00000368346.3	-	27	9367	c.8728A>G	c.(8728-8730)Acc>Gcc	p.T2910A	ASH1L_ENST00000392403.3_Missense_Mutation_p.T2905A			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2910					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)			GGGGTACAGGTTGACTGGGGT	0.488																																						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.(8728-8730)Acc>Gcc		ash1 (absent, small, or homeotic)-like (Drosophila)							220	181	194					1																	155307970		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.chr1:155307970T>C	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.8728A>G	1.37:g.155307970T>C	ENSP00000357330:p.Thr2910Ala					ASH1L_ENST00000392403.3_Missense_Mutation_p.T2905A	p.T2910A			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		27	9367	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2910					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.8728A>G		.	.	.	.	.	.	.	.	.	.	T	0.040	-1.289941	0.01387	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.87571	-2.27;-2.27	5.53	3.53	0.40419	.	0.896397	0.09979	N	0.731268	T	0.46737	0.1408	N	0.08118	0	0.34129	D	0.665037	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41502	-0.9505	10	0.02654	T	1	.	3.3304	0.07082	0.1635:0.5333:0.2088:0.0944	.	2910;2905	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	A	2910;2905	ENSP00000357330:T2910A;ENSP00000376204:T2905A	ENSP00000357330:T2910A	T	-	1	0	ASH1L	153574594	0.209000	0.23505	0.910000	0.35882	0.418000	0.31294	0.442000	0.21628	1.540000	0.49301	-0.242000	0.12053	ACC		0.488	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		34	89	0	0	0	1	0	34	89					C	155307970	T	C	155307970	3	2	458	1	0	0	0	0	1	0	0	0	1041	1725	60	3	189	3	ASH1L	1	155307970	Missense_Mutation	SNP	T	TCGA-IM-A3U2-01A-21D-A22D-08	3032062	155307970	93942651	6	9315											
HEATR1	55127	broad.mit.edu	37	chr1	236729279	236729279	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	attcatcaagctttgtatctGatgctggacactaaactcac	6	10	4	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:236729279G>C	ENST00000366582.3	-	31	4489	c.4375C>G	c.(4375-4377)Cag>Gag	p.Q1459E	HEATR1_ENST00000366581.2_Missense_Mutation_p.Q1378E	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1459					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTTTGTATCTGATGCTGGACA	0.378																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(4375-4377)Cag>Gag		HEAT repeat containing 1							125	118	120					1																	236729279		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236729279G>C	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.4375C>G	1.37:g.236729279G>C	ENSP00000355541:p.Gln1459Glu					HEATR1_ENST00000366581.2_Missense_Mutation_p.Q1378E	p.Q1459E	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		31	4489	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	1459					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.4375C>G	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486495	0.84854	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.65178	-0.14;1.53	4.7	4.7	0.59300	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77485	0.4137	M	0.66506	2.035	0.80722	D	1	P;D	0.76494	0.895;0.999	P;D	0.71656	0.57;0.974	T	0.80144	-0.1505	10	0.66056	D	0.02	.	17.8195	0.88645	0.0:0.0:1.0:0.0	.	1378;1459	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	E	1459;1378	ENSP00000355541:Q1459E;ENSP00000355540:Q1378E	ENSP00000355540:Q1378E	Q	-	1	0	HEATR1	234795902	1.000000	0.71417	0.989000	0.46669	0.994000	0.84299	8.240000	0.89813	2.423000	0.82170	0.655000	0.94253	CAG		0.378	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		34	58	0	0	0	1	0	34	58					C	236729279	G	C	236729279	3	2	458	1	0	0	0	0	1	0	0	0	7027	1299	45	4	2119	4	HEATR1	1	236729279	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	81421309	236729279	12521342	7	9316											
DNMT3A	1788	broad.mit.edu	37	chr2	25471030	25471043	+	Frame_Shift_Del	DEL	GGGCTGGCCTCCTC	GGGCTGGCCTCCTC	-													tgggctgctgcacagcaggaGggctggcctcctccaccttc							TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr2:25471030_25471043delGGGCTGGCCTCCTC	ENST00000264709.3	-	7	1055_1068	c.718_731delGAGGAGGCCAGCCC	c.(718-732)gaggaggccagccctfs	p.EEASP240fs	DNMT3A_ENST00000321117.5_Frame_Shift_Del_p.EEASP240fs|DNMT3A_ENST00000380746.4_Frame_Shift_Del_p.EEASP51fs|DNMT3A_ENST00000402667.1_Frame_Shift_Del_p.EEASP17fs	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	240	Interaction with DNMT1 and DNMT3B.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACAGCAGGAGGGCTGGCCTCCTCCACCTTCTGA	0.584			"Mis, F, N, S"		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"Mis, F, N, S"	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(718-732)tfs		DNA (cytosine-5-)-methyltransferase 3 alpha																																				SO:0001589	frameshift_variant	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25471030_25471043delGGGCTGGCCTCCTC		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.718_731delGAGGAGGCCAGCCC	2.37:g.25471030_25471043delGGGCTGGCCTCCTC	ENSP00000264709:p.Glu240fs					DNMT3A_ENST00000402667.1_Frame_Shift_Del_p.EEASP17fs|DNMT3A_ENST00000380746.4_Frame_Shift_Del_p.EEASP51fs|DNMT3A_ENST00000321117.5_Frame_Shift_Del_p.EEASP240fs	p.EEASP240fs	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			7	1055_1068	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		240			Interaction with DNMT1 and DNMT3B.		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Frame_Shift_Del	DEL	ENST00000264709.3	37	c.718_731delGAGGAGGCCAGCCC	CCDS33157.1																																																																																				0.584	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		19	109						19	109	---	---	---	---	-	25471043	GGGCTGGCCTCCTC	-	25471030	7	5	458	1	0	1	0	1	0	0	0	0	4676	1000	35	0	2075	0	DNMT3A	2	25471030	Frame_Shift_Del	DEL	GGGCTGGCCTCCTC	TCGA-IM-A3U2-01A-21D-A22D-08		25471030	217728343	8	9317											
IL1R1	3554	broad.mit.edu	37	chr2	102781357	102781357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacttggtataaagatgacaGcaagacacctgtatctacag	8	8	1	3			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr2:102781357G>A	ENST00000410023.1	+	4	503	c.185G>A	c.(184-186)aGc>aAc	p.S62N	IL1R1_ENST00000409929.1_Missense_Mutation_p.S62N|IL1R1_ENST00000409288.1_Missense_Mutation_p.S62N|IL1R1_ENST00000409589.1_Missense_Mutation_p.S62N|IL1R1_ENST00000409329.1_Missense_Mutation_p.S62N|IL1R1_ENST00000424272.1_Missense_Mutation_p.S62N|IL1R1_ENST00000233946.3_Missense_Mutation_p.S62N			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	62	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	AAAGATGACAGCAAGACACCT	0.383																																						ENST00000410023.1																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19						c.(184-186)aGc>aAc		interleukin 1 receptor, type I	Anakinra(DB00026)						114	104	107					2																	102781357		2203	4300	6503	SO:0001583	missense	3554				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding	g.chr2:102781357G>A	M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA		1833184, 10191101	Standard	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.185G>A	2.37:g.102781357G>A	ENSP00000386380:p.Ser62Asn					IL1R1_ENST00000424272.1_Missense_Mutation_p.S62N|IL1R1_ENST00000409929.1_Missense_Mutation_p.S62N|IL1R1_ENST00000233946.3_Missense_Mutation_p.S62N|IL1R1_ENST00000409329.1_Missense_Mutation_p.S62N|IL1R1_ENST00000409288.1_Missense_Mutation_p.S62N|IL1R1_ENST00000409589.1_Missense_Mutation_p.S62N	p.S62N			P14778	IL1R1_HUMAN			4	503	+			62			Ig-like C2-type 1.		Q587I7	Missense_Mutation	SNP	ENST00000410023.1	37	c.185G>A	CCDS2055.1	.	.	.	.	.	.	.	.	.	.	G	8.646	0.897012	0.17686	.	.	ENSG00000115594	ENST00000452403;ENST00000409929;ENST00000424272;ENST00000409589;ENST00000409329;ENST00000450319;ENST00000442590;ENST00000409288;ENST00000410023;ENST00000233946;ENST00000430171	T;T;T;T;T;T;T;T;T;T	0.69435	-0.4;-0.4;0.23;-0.4;-0.4;0.23;-0.4;-0.4;-0.4;0.23	5.63	4.76	0.60689	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.220091	0.56097	N	0.000038	T	0.64724	0.2624	M	0.74258	2.255	0.09310	N	0.999999	B;B;P	0.36171	0.043;0.039;0.541	B;B;B	0.37480	0.021;0.017;0.251	T	0.59500	-0.7443	10	0.36615	T	0.2	.	9.1598	0.37016	0.1662:0.0:0.8338:0.0	.	62;62;62	B8ZZW4;P14778;B8ZZ73	.;IL1R1_HUMAN;.	N	62	ENSP00000386776:S62N;ENSP00000415366:S62N;ENSP00000386555:S62N;ENSP00000387131:S62N;ENSP00000411627:S62N;ENSP00000393296:S62N;ENSP00000386478:S62N;ENSP00000386380:S62N;ENSP00000233946:S62N;ENSP00000408101:S62N	ENSP00000233946:S62N	S	+	2	0	IL1R1	102147789	0.159000	0.22864	0.508000	0.27688	0.310000	0.27922	1.405000	0.34635	1.532000	0.49169	0.655000	0.94253	AGC		0.383	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253299.1			3	92	0	0	0	1	0	3	92					A	102781357	G	A	102781357	3	1	458	1	0	0	0	0	1	0	0	0	7658	971	34	2	191	2	IL1R1	2	102781357	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	77310327	102781357	140418016	9	9318											
ZNF804A	91752	broad.mit.edu	37	chr2	185801992	185801992	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cgctgcaaaatggaagcagaGaatagttacactgaaaatgc	10	7	0	2			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr2:185801992G>C	ENST00000302277.6	+	4	2463	c.1869G>C	c.(1867-1869)gaG>gaC	p.E623D		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	623							metal ion binding (GO:0046872)			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						TGGAAGCAGAGAATAGTTACA	0.338																																						ENST00000302277.6																			0				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.(1867-1869)gaG>gaC		zinc finger protein 804A							93	102	99					2																	185801992		2203	4298	6501	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185801992G>C	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.1869G>C	2.37:g.185801992G>C	ENSP00000303252:p.Glu623Asp						p.E623D	NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN			4	2463	+			623					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.1869G>C	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	1.725	-0.495507	0.04291	.	.	ENSG00000170396	ENST00000302277	T	0.06768	3.26	5.51	-4.13	0.03904	.	0.867750	0.09913	N	0.739495	T	0.04861	0.0131	L	0.29908	0.895	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.44314	-0.9336	10	0.21014	T	0.42	0.3984	5.3017	0.15781	0.2526:0.5183:0.1294:0.0998	.	623	Q7Z570	Z804A_HUMAN	D	623	ENSP00000303252:E623D	ENSP00000303252:E623D	E	+	3	2	ZNF804A	185510237	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.171000	0.09883	-0.729000	0.04875	-0.176000	0.13171	GAG		0.338	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		5	262	0	0	0	1	0	5	262					C	185801992	G	C	185801992	3	2	458	1	0	0	0	0	1	0	0	0	18167	933	33	4	1883	4	ZNF804A	2	185801992	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	83020635	185801992	57397381	10	9319											
TNS1	7145	broad.mit.edu	37	chr2	218713500	218713500	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgggtgtggtacatggcGccttgcttctctcgctctaa	12	11	2	0			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr2:218713500G>A	ENST00000171887.4	-	17	1817	c.1365C>T	c.(1363-1365)ggC>ggT	p.G455G	TNS1_ENST00000430930.1_Silent_p.G455G|TNS1_ENST00000480665.1_5'UTR|TNS1_ENST00000419504.1_Silent_p.G455G	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	455					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGTACATGGCGCCTTGCTTCT	0.657																																						ENST00000171887.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(1363-1365)ggC>ggT		tensin 1							62	65	64					2																	218713500		2203	4300	6503	SO:0001819	synonymous_variant	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218713500G>A	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1365C>T	2.37:g.218713500G>A						TNS1_ENST00000430930.1_Silent_p.G455G|TNS1_ENST00000419504.1_Silent_p.G455G|TNS1_ENST00000480665.1_5'UTR	p.G455G	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	17	1817	-		Renal(207;0.0483)|Lung NSC(271;0.213)	455					Q4ZG71|Q6IPI5	Silent	SNP	ENST00000171887.4	37	c.1365C>T	CCDS2407.1																																																																																				0.657	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		3	101	0	0	0	1	0	3	101					A	218713500	G	A	218713500	2	1	458	1	0	0	0	0	0	0	0	1	16340	1074	38	1		1	TNS1	2	218713500	Silent	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	32911508	218713500	24485873	11	9320											
COL4A4	1286	broad.mit.edu	37	chr2	227945177	227945177	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actggaggtcctggatccccTttttctccagcatgtccatc	8	14	1	0			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr2:227945177T>C	ENST00000396625.3	-	24	1992	c.1785A>G	c.(1783-1785)aaA>aaG	p.K595K	COL4A4_ENST00000329662.7_Silent_p.K595K	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	595	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CTGGATCCCCTTTTTCTCCAG	0.463																																						ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(1783-1785)aaA>aaG		collagen, type IV, alpha 4							126	126	126					2																	227945177		1858	4099	5957	SO:0001819	synonymous_variant	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227945177T>C		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1785A>G	2.37:g.227945177T>C						COL4A4_ENST00000329662.7_Silent_p.K595K	p.K595K	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	24	1992	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	595			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Silent	SNP	ENST00000396625.3	37	c.1785A>G	CCDS42828.1																																																																																				0.463	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		3	221	0	0	0	1	0	3	221					C	227945177	T	C	227945177	2	2	458	1	0	0	0	0	0	0	0	1	3693	1606	56	3		3	COL4A4	2	227945177	Silent	SNP	T	TCGA-IM-A3U2-01A-21D-A22D-08	9231677	227945177	15254196	12	9321											
FANCD2	2177	broad.mit.edu	37	chr3	10106529	10106529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactttgcaaaagatggggGtccggtgacctcacaggaat	14	8	1	2			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr3:10106529G>A	ENST00000419585.1	+	23	2299	c.2138G>A	c.(2137-2139)gGt>gAt	p.G713D	FANCD2_ENST00000287647.3_Missense_Mutation_p.G713D|FANCD2_ENST00000383807.1_Missense_Mutation_p.G713D|FANCD2_ENST00000383806.1_Missense_Mutation_p.G713D			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	713					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AAAGATGGGGGTCCGGTGACC	0.463			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"D, Mis, N, F"	"Fanconi anemia, complementation group D2"			L		"AML, leukemia"			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(2137-2139)gGt>gAt	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							98	108	105					3																	10106529		2203	4300	6503	SO:0001583	missense	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10106529G>A	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"Fanconi anemia, complementation groups"	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2138G>A	3.37:g.10106529G>A	ENSP00000398754:p.Gly713Asp					FANCD2_ENST00000383807.1_Missense_Mutation_p.G713D|FANCD2_ENST00000383806.1_Missense_Mutation_p.G713D|FANCD2_ENST00000419585.1_Missense_Mutation_p.G713D	p.G713D	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	23	2231	+			713					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.2138G>A	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	G	3.692	-0.063396	0.07273	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.65	3.78	0.43462	.	0.608262	0.19262	N	0.118659	T	0.27419	0.0673	N	0.20685	0.6	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.11329	0.004;0.006	T	0.13361	-1.0512	10	0.12103	T	0.63	.	14.1836	0.65590	0.0:0.311:0.689:0.0	.	713;713	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	D	713	ENSP00000287647:G713D;ENSP00000373318:G713D;ENSP00000373317:G713D;ENSP00000398754:G713D	ENSP00000287647:G713D	G	+	2	0	FANCD2	10081529	0.001000	0.12720	0.001000	0.08648	0.005000	0.04900	0.182000	0.16900	0.794000	0.33899	0.585000	0.79938	GGT		0.463	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			4	243	0	0	0	1	0	4	243					A	10106529	G	A	10106529	3	1	458	1	0	0	0	0	1	0	0	0	5665	1261	44	2	2224	2	FANCD2	3	10106529	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08		10106529	187915901	13	9322											
CPZ	8532	broad.mit.edu	37	chr4	8605771	8605771	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcatccgcttcagccaccacTcctacgcccagatggtgcgt	8	17	2	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr4:8605771T>A	ENST00000360986.4	+	4	739	c.565T>A	c.(565-567)Tcc>Acc	p.S189T	CPZ_ENST00000315782.6_Missense_Mutation_p.S178T|CPZ_ENST00000382480.2_Missense_Mutation_p.S52T|CPZ_ENST00000429646.2_5'UTR	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	189					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAGCCACCACTCCTACGCCCA	0.697																																						ENST00000382480.2																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(154-156)Tcc>Acc		carboxypeptidase Z							29	24	26					4																	8605771		2169	4264	6433	SO:0001583	missense	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8605771T>A	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"metallocarboxypeptidase Z"	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.565T>A	4.37:g.8605771T>A	ENSP00000354255:p.Ser189Thr					CPZ_ENST00000360986.4_Missense_Mutation_p.S189T|CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.S178T	p.S52T	NM_001014448.2	NP_001014448.1	Q66K79	CBPZ_HUMAN			4	954	+			189			FZ.		O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	c.154T>A	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	T	11.68	1.711953	0.30322	.	.	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782	T;T;T	0.03386	3.95;3.95;3.95	3.86	2.68	0.31781	.	0.481325	0.23556	N	0.046902	T	0.05547	0.0146	M	0.65498	2.005	0.80722	D	1	B;B	0.33904	0.423;0.431	B;B	0.37422	0.249;0.178	T	0.28870	-1.0030	10	0.51188	T	0.08	-27.092	4.4065	0.11411	0.1733:0.0955:0.0:0.7311	.	178;189	Q66K79-2;Q66K79	.;CBPZ_HUMAN	T	189;52;178	ENSP00000354255:S189T;ENSP00000371920:S52T;ENSP00000315074:S178T	ENSP00000315074:S178T	S	+	1	0	CPZ	8656671	0.997000	0.39634	1.000000	0.80357	0.611000	0.37282	1.520000	0.35899	0.555000	0.29079	0.454000	0.30748	TCC		0.697	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		5	67	0	0	0	1	0	5	67					A	8605771	T	A	8605771	3	1	458	1	0	0	0	0	1	0	0	0	3839	1551	54	5	579	5	CPZ	4	8605771	Missense_Mutation	SNP	T	TCGA-IM-A3U2-01A-21D-A22D-08		8605771	182548505	14	9323											
POLR2B	5431	broad.mit.edu	37	chr4	57889901	57889901	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaagggtacttgtggtaTtcagtatagacaagaggtag	12	4	2	2			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr4:57889901T>G	ENST00000381227.1	+	21	3253	c.2840T>G	c.(2839-2841)aTt>aGt	p.I947S	POLR2B_ENST00000314595.5_Missense_Mutation_p.I947S|POLR2B_ENST00000441246.2_Missense_Mutation_p.I940S|POLR2B_ENST00000431623.2_Missense_Mutation_p.I872S			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	947					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					ACTTGTGGTATTCAGTATAGA	0.333																																						ENST00000381227.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52						c.(2839-2841)aTt>aGt		polymerase (RNA) II (DNA directed) polypeptide B, 140kDa							89	88	88					4																	57889901		2203	4300	6503	SO:0001583	missense	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57889901T>G		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"RNA polymerase subunits"	9188	protein-coding gene	gene with protein product		180661	"polymerase (RNA) II (DNA directed) polypeptide B (140kD)"			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.2840T>G	4.37:g.57889901T>G	ENSP00000370625:p.Ile947Ser					POLR2B_ENST00000314595.5_Missense_Mutation_p.I947S|POLR2B_ENST00000431623.2_Missense_Mutation_p.I872S|POLR2B_ENST00000441246.2_Missense_Mutation_p.I940S	p.I947S			P30876	RPB2_HUMAN			21	3253	+	Glioma(25;0.08)|all_neural(26;0.181)		947					A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	c.2840T>G	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.068974	0.76301	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	5.86	5.86	0.93980	DNA-directed RNA polymerase, subunit 2, domain 6 (2);	0.000000	0.85682	D	0.000000	D	0.88036	0.6329	M	0.90019	3.08	0.80722	D	1	P;P	0.42620	0.589;0.785	P;P	0.56474	0.799;0.799	D	0.89751	0.3940	10	0.87932	D	0	.	11.3568	0.49620	0.1353:0.0:0.0:0.8647	.	872;947	C9J4M6;P30876	.;RPB2_HUMAN	S	947;872;940;947	ENSP00000370625:I947S;ENSP00000391096:I872S;ENSP00000391452:I940S;ENSP00000312735:I947S	ENSP00000312735:I947S	I	+	2	0	POLR2B	57584658	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.029000	0.88807	2.237000	0.73441	0.460000	0.39030	ATT		0.333	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		60	98	0	0	0	1	0	60	98					G	57889901	T	G	57889901	3	3	458	1	0	0	0	0	1	0	0	0	12215	1493	52	5	2918	5	POLR2B	4	57889901	Missense_Mutation	SNP	T	TCGA-IM-A3U2-01A-21D-A22D-08	49284130	57889901	133264375	15	9324											
DMXL1	1657	broad.mit.edu	37	chr5	118556676	118556676	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acatgctcgtgatgatttaaCagctgttcaaggtacaactc	8	9	1	2			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr5:118556676C>A	ENST00000311085.8	+	36	8194	c.8114C>A	c.(8113-8115)aCa>aAa	p.T2705K	DMXL1_ENST00000505312.1_3'UTR|DMXL1_ENST00000539542.1_Missense_Mutation_p.T2726K	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2705										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GATGATTTAACAGCTGTTCAA	0.388																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(8113-8115)aCa>aAa		Dmx-like 1							102	96	98					5																	118556676		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118556676C>A	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.8114C>A	5.37:g.118556676C>A	ENSP00000309690:p.Thr2705Lys					DMXL1_ENST00000505312.1_3'UTR|DMXL1_ENST00000539542.1_Missense_Mutation_p.T2726K	p.T2705K	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	36	8194	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2705						Missense_Mutation	SNP	ENST00000311085.8	37	c.8114C>A	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	C	8.596	0.885651	0.17540	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.09255	3.01;3.0	5.15	4.28	0.50868	.	0.296401	0.36200	N	0.002723	T	0.04543	0.0124	N	0.03608	-0.345	0.25894	N	0.983435	B;B	0.21309	0.054;0.018	B;B	0.23574	0.047;0.021	T	0.36286	-0.9754	10	0.28530	T	0.3	-2.2964	6.8607	0.24066	0.0:0.6836:0.1469:0.1696	.	2726;2705	F5H269;Q9Y485	.;DMXL1_HUMAN	K	2705;2726	ENSP00000309690:T2705K;ENSP00000439479:T2726K	ENSP00000309690:T2705K	T	+	2	0	DMXL1	118584575	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.805000	0.27112	1.178000	0.42870	0.563000	0.77884	ACA		0.388	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		3	100	1	0	0.004672	1	0.00487295	3	100					A	118556676	C	A	118556676	3	1	458	1	0	0	0	0	1	0	0	0	4594	478	17	4	8256	4	DMXL1	5	118556676	Missense_Mutation	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08		118556676	62358584	16	9325											
PSD2	84249	broad.mit.edu	37	chr5	139216458	139216458	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacaagttcgggacaggcaCgaagaaggtgacgcgaatcc	14	9	0	3			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr5:139216458C>T	ENST00000274710.3	+	10	1671	c.1466C>T	c.(1465-1467)aCg>aTg	p.T489M		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	489					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGACAGGCACGAAGAAGGTG	0.592																																						ENST00000274710.3																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38						c.(1465-1467)aCg>aTg		pleckstrin and Sec7 domain containing 2							171	153	159					5																	139216458		2203	4300	6503	SO:0001583	missense	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139216458C>T	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"Pleckstrin homology (PH) domain containing"	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.1466C>T	5.37:g.139216458C>T	ENSP00000274710:p.Thr489Met						p.T489M	NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		10	1671	+			489					D3DQD3|Q8N3J8	Missense_Mutation	SNP	ENST00000274710.3	37	c.1466C>T	CCDS4216.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800130	0.50208	.	.	ENSG00000146005	ENST00000274710	T	0.12465	2.68	5.37	3.5	0.40072	.	0.368838	0.31041	N	0.008370	T	0.11580	0.0282	N	0.14661	0.345	0.09310	N	0.999997	D	0.61697	0.99	P	0.49361	0.608	T	0.09840	-1.0656	10	0.42905	T	0.14	.	11.0402	0.47827	0.0:0.8407:0.0:0.1593	.	489	Q9BQI7	PSD2_HUMAN	M	489	ENSP00000274710:T489M	ENSP00000274710:T489M	T	+	2	0	PSD2	139196642	0.967000	0.33354	0.775000	0.31657	0.778000	0.44026	2.568000	0.45965	0.576000	0.29452	-0.378000	0.06908	ACG		0.592	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		6	201	0	0	0	1	0	6	201					T	139216458	C	T	139216458	3	4	458	1	0	0	0	0	1	0	0	0	12647	536	19	1	1500	1	PSD2	5	139216458	Missense_Mutation	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08	20659782	139216458	41698802	17	9326											
DBN1	1627	broad.mit.edu	37	chr5	176893991	176893991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccgctcctgctccatccGctcctgctcgaacctgagcc	8	20	0	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr5:176893991G>A	ENST00000309007.5	-	7	847	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	DBN1_ENST00000292385.5_Missense_Mutation_p.R212W|DBN1_ENST00000393565.1_Missense_Mutation_p.R210W	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	210					actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	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)			TGCTCCATCCGCTCCTGCTCG	0.667																																						ENST00000292385.5																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25						c.(634-636)Cgg>Tgg		drebrin 1							59	60	60					5																	176893991		2203	4300	6503	SO:0001583	missense	1627				actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding	g.chr5:176893991G>A		CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.628C>T	5.37:g.176893991G>A	ENSP00000308532:p.Arg210Trp					DBN1_ENST00000393565.1_Missense_Mutation_p.R210W|DBN1_ENST00000309007.5_Missense_Mutation_p.R210W	p.R212W	NM_080881.2	NP_543157.1	Q16643	DREB_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1243	-	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	210					A8MV58|B2RBG0|Q9UFZ5	Missense_Mutation	SNP	ENST00000309007.5	37	c.634C>T	CCDS4420.1	.	.	.	.	.	.	.	.	.	.	G	34	5.351460	0.95830	.	.	ENSG00000113758	ENST00000309007;ENST00000292385;ENST00000393565;ENST00000477391	T;T;T	0.44083	0.93;0.93;1.54	4.99	4.99	0.66335	.	0.128515	0.52532	D	0.000062	T	0.67059	0.2853	M	0.78456	2.415	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.995;0.998;0.999	T	0.71477	-0.4581	10	0.87932	D	0	-23.6691	18.0729	0.89417	0.0:0.0:1.0:0.0	.	160;210;210;212	B3KSQ7;A8MV58;Q16643;Q16643-2	.;.;DREB_HUMAN;.	W	210;212;210;209	ENSP00000308532:R210W;ENSP00000292385:R212W;ENSP00000377195:R210W	ENSP00000292385:R212W	R	-	1	2	DBN1	176826597	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.416000	0.59815	2.586000	0.87340	0.655000	0.94253	CGG		0.667	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2	NM_080881		3	70	0	0	0	1	0	3	70					A	176893991	G	A	176893991	3	1	458	1	0	0	0	0	1	0	0	0	4252	1086	38	1	1353	1	DBN1	5	176893991	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	37677533	176893991	4021269	18	9327											
DNAH8	1769	broad.mit.edu	37	chr6	38749066	38749066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagatgacccccctcttgctCgcaacatgccccctatagca	6	17	1	2			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr6:38749066C>T	ENST00000359357.3	+	14	1779	c.1525C>T	c.(1525-1527)Cgc>Tgc	p.R509C	DNAH8_ENST00000449981.2_Missense_Mutation_p.R726C|DNAH8_ENST00000441566.1_Missense_Mutation_p.R509C			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	509					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						CCCTCTTGCTCGCAACATGCC	0.383																																						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.(1525-1527)Cgc>Tgc		dynein, axonemal, heavy chain 8							76	79	78					6																	38749066		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38749066C>T	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.1525C>T	6.37:g.38749066C>T	ENSP00000352312:p.Arg509Cys					DNAH8_ENST00000441566.1_Missense_Mutation_p.R509C|DNAH8_ENST00000449981.2_Missense_Mutation_p.R726C	p.R509C							14	1779	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.1525C>T		.	.	.	.	.	.	.	.	.	.	C	19.71	3.877486	0.72294	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.60040	0.22;0.22;0.22	5.57	4.62	0.57501	Dynein heavy chain, domain-1 (1);	0.000000	0.85682	D	0.000000	T	0.74981	0.3788	M	0.86864	2.845	0.58432	D	0.999999	D	0.89917	1.0	D	0.77004	0.989	T	0.79502	-0.1777	10	0.87932	D	0	.	15.5155	0.75822	0.1471:0.8529:0.0:0.0	.	509	Q96JB1	DYH8_HUMAN	C	714;714;509;509	ENSP00000333363:R714C;ENSP00000352312:R509C;ENSP00000402294:R509C	ENSP00000333363:R714C	R	+	1	0	DNAH8	38857044	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.010000	0.49559	2.627000	0.88993	0.543000	0.68304	CGC		0.383	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		50	108	0	0	0	1	0	50	108					T	38749066	C	T	38749066	3	4	458	1	0	0	0	0	1	0	0	0	4607	884	31	1	1571	1	DNAH8	6	38749066	Missense_Mutation	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08		38749066	132366001	19	9328											
PRDM1	639	broad.mit.edu	37	chr6	106547263	106547264	+	Frame_Shift_Ins	INS	-	-	T													tatgtgaatccagcacactcINStccccgggagcaaaacctgg							TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr6:106547263_106547264insT	ENST00000369096.4	+	4	734_735	c.500_501insT	c.(499-504)tctcccfs	p.P168fs	PRDM1_ENST00000369089.3_Frame_Shift_Ins_p.P34fs|RP1-134E15.3_ENST00000602426.1_RNA|PRDM1_ENST00000369091.2_Frame_Shift_Ins_p.P132fs	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	168	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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)		CCAGCACACTCTCCCCGGGAGC	0.485			"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.(499-501)tccfs		PR domain containing 1, with ZNF domain																																				SO:0001589	frameshift_variant	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.chr6:106547263_106547264insT		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.501dupT	6.37:g.106547264_106547264dupT	ENSP00000358092:p.Pro168fs					PRDM1_ENST00000369091.2_Frame_Shift_Ins_p.S131fs|PRDM1_ENST00000369089.3_Frame_Shift_Ins_p.S33fs	p.S167fs	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)	4	734_735	+	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)	167			SET.		B2REA6|E1P5E0|Q86WM7	Frame_Shift_Ins	INS	ENST00000369096.4	37	c.500_501insT	CCDS5054.2																																																																																				0.485	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			36	102						36	102	---	---	---	---	T	106547264	-	T	106547263	7	5	458	1	0	1	1	0	0	0	0	0	12450	913	32	0	527	0	PRDM1	6	106547263	Frame_Shift_Ins	INS	-	TCGA-IM-A3U2-01A-21D-A22D-08	67798197	106547263	64567804	20	9329											
ARID1B	57492	broad.mit.edu	37	chr6	157528133	157528133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgtgtccaatattgtccGtagcttgtcattcgtgcctg	10	10	1	0			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr6:157528133G>A	ENST00000350026.5	+	19	5820	c.5819G>A	c.(5818-5820)cGt>cAt	p.R1940H	ARID1B_ENST00000275248.4_Missense_Mutation_p.R1935H|ARID1B_ENST00000367148.1_Missense_Mutation_p.R1993H|ARID1B_ENST00000346085.5_Missense_Mutation_p.R1953H	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1940					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.R1935H(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AATATTGTCCGTAGCTTGTCA	0.557																																						ENST00000346085.5																			1	Substitution - Missense(1)	p.R1935H(1)	large_intestine(1)	NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(5857-5859)cGt>cAt		AT rich interactive domain 1B (SWI1-like)							130	127	128					6																	157528133		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157528133G>A	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.5819G>A	6.37:g.157528133G>A	ENSP00000055163:p.Arg1940His					ARID1B_ENST00000275248.4_Missense_Mutation_p.R1935H|ARID1B_ENST00000350026.5_Missense_Mutation_p.R1940H|ARID1B_ENST00000367148.1_Missense_Mutation_p.R1993H	p.R1953H	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	20	5859	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1940					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.5858G>A	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550387	0.65311	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.67487	0.2898	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.74051	-0.3789	10	0.87932	D	0	.	18.182	0.89781	0.0:0.0:1.0:0.0	.	1940;1953;1935	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	H	1953;1940;1993;1935;1462	ENSP00000344546:R1953H;ENSP00000055163:R1940H;ENSP00000356116:R1993H;ENSP00000275248:R1935H;ENSP00000412835:R1462H	ENSP00000275248:R1935H	R	+	2	0	ARID1B	157569825	1.000000	0.71417	0.920000	0.36463	0.849000	0.48306	9.813000	0.99286	2.347000	0.79759	0.563000	0.77884	CGT		0.557	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		5	263	0	0	0	1	0	5	263					A	157528133	G	A	157528133	3	1	458	1	0	0	0	0	1	0	0	0	914	1145	40	1	5936	1	ARID1B	6	157528133	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	50980870	157528133	13586934	21	9330											
SYTL3	94120	broad.mit.edu	37	chr6	159178397	159178397	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacacagtccttccgctggcAtccgctccgggccaaggtga	11	15	0	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr6:159178397A>G	ENST00000297239.9	+	13	1486	c.1292A>G	c.(1291-1293)cAt>cGt	p.H431R	SYTL3_ENST00000360448.3_Missense_Mutation_p.H363R|SYTL3_ENST00000367081.3_Missense_Mutation_p.H157R			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	431					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		TTCCGCTGGCATCCGCTCCGG	0.527																																						ENST00000297239.9																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20						c.(1291-1293)cAt>cGt		synaptotagmin-like 3							90	77	82					6																	159178397		2203	4300	6503	SO:0001583	missense	94120				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding	g.chr6:159178397A>G	AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.1292A>G	6.37:g.159178397A>G	ENSP00000297239:p.His431Arg					SYTL3_ENST00000367081.3_Missense_Mutation_p.H157R|SYTL3_ENST00000360448.3_Missense_Mutation_p.H363R	p.H431R			Q4VX76	SYTL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)	13	1486	+		Breast(66;0.000776)|Ovarian(120;0.0303)	431					Q496J4|Q496J6|Q5U3B9	Missense_Mutation	SNP	ENST00000297239.9	37	c.1292A>G	CCDS56458.1	.	.	.	.	.	.	.	.	.	.	A	11.56	1.675109	0.29783	.	.	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239;ENST00000367081	T;T;T	0.07567	3.18;3.18;3.18	5.07	5.07	0.68467	C2 calcium/lipid-binding domain, CaLB (1);	0.320887	0.29892	N	0.010939	T	0.03348	0.0097	N	0.22421	0.69	0.23795	N	0.996827	B;B;B	0.25667	0.12;0.023;0.131	B;B;B	0.33960	0.104;0.009;0.173	T	0.34925	-0.9809	10	0.48119	T	0.1	.	14.812	0.70003	1.0:0.0:0.0:0.0	.	157;431;363	F8W7H4;Q4VX76;Q4VX76-2	.;SYTL3_HUMAN;.	R	363;431;431;157	ENSP00000353631:H363R;ENSP00000297239:H431R;ENSP00000356048:H157R	ENSP00000297239:H431R	H	+	2	0	SYTL3	159098385	1.000000	0.71417	0.023000	0.16930	0.141000	0.21300	8.231000	0.89794	1.909000	0.55274	0.402000	0.26972	CAT		0.527	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1			18	83	0	0	0	1	0	18	83					G	159178397	A	G	159178397	3	3	458	1	0	0	0	0	1	0	0	0	15481	217	8	3	1122	3	SYTL3	6	159178397	Missense_Mutation	SNP	A	TCGA-IM-A3U2-01A-21D-A22D-08	1650264	159178397	11936670	22	9331											
SLC22A2	6582	broad.mit.edu	37	chr6	160679691	160679691	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgcccacgtagatgggcgcGaaggtagccgagagcagagc	16	10	0	3	rs568261775		TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr6:160679691G>A	ENST00000366953.3	-	1	357	c.99C>T	c.(97-99)ttC>ttT	p.F33F	SLC22A2_ENST00000366952.1_Silent_p.F12F|SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	33					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	AGATGGGCGCGAAGGTAGCCG	0.612													G|||	1	0.000199681	0	0	5008	,	,		17835	0		0	False		,,,				2504	0.001					ENST00000366952.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27						c.(34-36)ttC>ttT		solute carrier family 22 (organic cation transporter), member 2							41	44	43					6																	160679691		2203	4298	6501	SO:0001819	synonymous_variant	6582				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	g.chr6:160679691G>A	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"Solute carriers"	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.99C>T	6.37:g.160679691G>A						SLC22A2_ENST00000366953.3_Silent_p.F33F|SLC22A2_ENST00000491092.1_5'UTR	p.F12F			O15244	S22A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	3	1517	-		Breast(66;0.000776)|Ovarian(120;0.0303)	33					Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Silent	SNP	ENST00000366953.3	37	c.36C>T	CCDS5276.1																																																																																				0.612	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058		33	71	0	0	0	1	0	33	71					A	160679691	G	A	160679691	2	1	458	1	0	0	0	0	0	0	0	1	14450	1049	37	1		1	SLC22A2	6	160679691	Silent	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	1501294	160679691	10435376	23	9332											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		52	83	0	0	0	1	0	52	83					T	140453136	A	T	140453136	3	4	458	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-IM-A3U2-01A-21D-A22D-08		140453136	18685527	24	9333											
FUT10	84750	broad.mit.edu	37	chr8	33247184	33247184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgcctgctgaacgtggcaGtgtagttgaacaaggtgatc	13	7	0	3			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr8:33247184G>A	ENST00000327671.5	-	4	1140	c.509C>T	c.(508-510)aCt>aTt	p.T170I	FUT10_ENST00000524021.1_Missense_Mutation_p.T142I|FUT10_ENST00000518672.1_Missense_Mutation_p.T142I|FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000335589.3_Missense_Mutation_p.T108I	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	170					embryo development (GO:0009790)|fertilization (GO:0009566)|fucosylation (GO:0036065)|hemopoiesis (GO:0030097)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein folding (GO:0006457)|protein glycosylation (GO:0006486)|protein targeting (GO:0006605)|wound healing (GO:0042060)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		GAACGTGGCAGTGTAGTTGAA	0.463																																						ENST00000327671.5																			0				cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29						c.(508-510)aCt>aTt		fucosyltransferase 10 (alpha (1,3) fucosyltransferase)							148	124	132					8																	33247184		2203	4300	6503	SO:0001583	missense	84750				embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr8:33247184G>A	AJ512465	CCDS6088.1	8p12	2013-02-26			ENSG00000172728	ENSG00000172728		"Fucosyltransferases"	19234	protein-coding gene	gene with protein product							Standard	NM_032664		Approved		uc003xje.3	Q6P4F1	OTTHUMG00000163954	ENST00000327671.5:c.509C>T	8.37:g.33247184G>A	ENSP00000332757:p.Thr170Ile					FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000518672.1_Missense_Mutation_p.T142I|FUT10_ENST00000524021.1_Missense_Mutation_p.T142I|FUT10_ENST00000335589.3_Missense_Mutation_p.T108I	p.T170I	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)	4	1140	-			170					A8KAC8|Q70GG3|Q8IVI6|Q8IVI7|Q8IVJ3|Q8TE43|Q9BSR3	Missense_Mutation	SNP	ENST00000327671.5	37	c.509C>T	CCDS6088.1	.	.	.	.	.	.	.	.	.	.	g	23.5	4.422331	0.83559	.	.	ENSG00000172728	ENST00000327671;ENST00000380081;ENST00000518672;ENST00000524021;ENST00000335589	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.17	5.17	0.71159	.	0.062472	0.64402	D	0.000006	T	0.76169	0.3950	M	0.92169	3.28	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.995;1.0;0.983;1.0;0.996	D;D;D;P;D;D	0.87578	0.998;0.979;0.998;0.885;0.998;0.992	T	0.82499	-0.0427	10	0.87932	D	0	-16.3317	16.5555	0.84484	0.0:0.0:1.0:0.0	.	220;170;142;108;170;212	B4E056;Q6P4F1-5;Q6P4F1-4;Q6P4F1-3;Q6P4F1;E7EU36	.;.;.;.;FUT10_HUMAN;.	I	170;212;142;142;108	ENSP00000332757:T170I;ENSP00000430428:T142I;ENSP00000429870:T142I;ENSP00000334997:T108I	ENSP00000332757:T170I	T	-	2	0	FUT10	33366726	1.000000	0.71417	0.965000	0.40720	0.959000	0.62525	9.782000	0.99034	2.562000	0.86427	0.552000	0.68991	ACT		0.463	FUT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376540.1	NM_032664		3	154	0	0	0	1	0	3	154					A	33247184	G	A	33247184	3	1	458	1	0	0	0	0	1	0	0	0	6102	1029	36	2	938	2	FUT10	8	33247184	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08		33247184	113116838	25	9334											
ARMC1	55156	broad.mit.edu	37	chr8	66525624	66525624	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaggactgaagaatgtcaTagatttcagaggccagaagt	13	5	2	5			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr8:66525624T>C	ENST00000276569.3	-	4	564	c.320A>G	c.(319-321)tAt>tGt	p.Y107C	ARMC1_ENST00000458464.2_Intron|ARMC1_ENST00000523384.1_5'UTR	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	107					metal ion transport (GO:0030001)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			AAGAATGTCATAGATTTCAGA	0.348																																						ENST00000276569.3																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14						c.(319-321)tAt>tGt		armadillo repeat containing 1							132	127	129					8																	66525624		2203	4300	6503	SO:0001583	missense	55156				metal ion transport		metal ion binding	g.chr8:66525624T>C	BC011607	CCDS6181.1, CCDS69490.1	8q12.3	2013-02-14			ENSG00000104442	ENSG00000104442		"Armadillo repeat containing"	17684	protein-coding gene	gene with protein product							Standard	XM_005251264		Approved	FLJ10511, Arcp	uc003xvl.3	Q9NVT9	OTTHUMG00000164374	ENST00000276569.3:c.320A>G	8.37:g.66525624T>C	ENSP00000276569:p.Tyr107Cys					ARMC1_ENST00000458464.2_Intron|ARMC1_ENST00000523384.1_5'UTR	p.Y107C	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)		4	564	-			107					B4E2W7|Q9H018|Q9H820	Missense_Mutation	SNP	ENST00000276569.3	37	c.320A>G	CCDS6181.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.224115	0.79576	.	.	ENSG00000104442	ENST00000276569;ENST00000518908;ENST00000519352	T;T;T	0.46451	0.87;0.87;0.87	6.02	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.55940	0.1952	M	0.70595	2.14	0.80722	D	1	D	0.69078	0.997	P	0.55824	0.785	T	0.58934	-0.7548	10	0.56958	D	0.05	.	12.2416	0.54546	0.0:0.0663:0.0:0.9337	.	107	Q9NVT9	ARMC1_HUMAN	C	107	ENSP00000276569:Y107C;ENSP00000429191:Y107C;ENSP00000429715:Y107C	ENSP00000276569:Y107C	Y	-	2	0	ARMC1	66688178	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.698000	0.84413	1.094000	0.41399	0.533000	0.62120	TAT		0.348	ARMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378480.1	NM_018120		52	77	0	0	0	1	0	52	77					C	66525624	T	C	66525624	3	2	458	1	0	0	0	0	1	0	0	0	949	1406	49	3	544	3	ARMC1	8	66525624	Missense_Mutation	SNP	T	TCGA-IM-A3U2-01A-21D-A22D-08	33278440	66525624	79838398	26	9335											
BNC2	54796	broad.mit.edu	37	chr9	16436640	16436640	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttgctatgacaggggtggCagctcctgaggtggcccgaa	15	10	0	2	rs377315626		TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr9:16436640C>T	ENST00000380672.4	-	6	1609	c.1552G>A	c.(1552-1554)Gcc>Acc	p.A518T	BNC2_ENST00000545497.1_Missense_Mutation_p.A423T|BNC2_ENST00000380667.2_Missense_Mutation_p.A451T|BNC2_ENST00000380666.2_Missense_Mutation_p.A518T	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		ACAGGGGTGGCAGCTCCTGAG	0.512																																						ENST00000380672.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(1552-1554)Gcc>Acc		basonuclin 2							71	77	75					9																	16436640		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16436640C>T	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"Zinc fingers, C2H2-type"	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1552G>A	9.37:g.16436640C>T	ENSP00000370047:p.Ala518Thr					BNC2_ENST00000380667.2_Missense_Mutation_p.A451T|BNC2_ENST00000380666.2_Missense_Mutation_p.A518T|BNC2_ENST00000545497.1_Missense_Mutation_p.A423T	p.A518T	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	1609	-			518						Missense_Mutation	SNP	ENST00000380672.4	37	c.1552G>A	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228353	0.79576	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.33438	1.42;1.41;1.44;1.44;1.41	5.88	5.88	0.94601	.	0.048681	0.85682	D	0.000000	T	0.45175	0.1329	L	0.58101	1.795	0.80722	D	1	D;P;P;P;P;P;P;P;P	0.56035	0.974;0.849;0.906;0.734;0.906;0.849;0.849;0.941;0.849	P;B;P;P;P;B;B;P;B	0.51701	0.647;0.378;0.677;0.466;0.582;0.378;0.378;0.616;0.378	T	0.09443	-1.0674	10	0.33940	T	0.23	-18.0475	20.2422	0.98381	0.0:1.0:0.0:0.0	.	423;451;518;344;518;475;518;423;283	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	T	518;475;451;423;344;518;518	ENSP00000370047:A518T;ENSP00000408370:A475T;ENSP00000370042:A451T;ENSP00000444640:A423T;ENSP00000370041:A518T	ENSP00000370041:A518T	A	-	1	0	BNC2	16426640	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.567000	0.82357	2.782000	0.95742	0.655000	0.94253	GCC		0.512	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		49	102	0	0	0	1	0	49	102					T	16436640	C	T	16436640	3	4	458	1	0	0	0	0	1	0	0	0	1475	710	25	2	1755	2	BNC2	9	16436640	Missense_Mutation	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08		16436640	124776791	27	9336											
TSTD2	158427	broad.mit.edu	37	chr9	100364973	100364973	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccttgacaggcagggcaGgtcaaaacgagctggcggca	15	10	1	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr9:100364973G>A	ENST00000341170.4	-	10	1711	c.1329C>T	c.(1327-1329)acC>acT	p.T443T		NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	443										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						AGGCAGGGCAGGTCAAAACGA	0.527																																						ENST00000341170.4																			0				large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(1327-1329)acC>acT		thiosulfate sulfurtransferase (rhodanese)-like domain containing 2							150	132	138					9																	100364973		2203	4300	6503	SO:0001819	synonymous_variant	158427							g.chr9:100364973G>A	AF258575	CCDS6727.2	9q22.33	2013-09-20	2009-08-12	2009-08-12	ENSG00000136925	ENSG00000136925			30087	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 97"	C9orf97		12477932	Standard	NM_139246		Approved	PP4189	uc004axn.3	Q5T7W7	OTTHUMG00000020328	ENST00000341170.4:c.1329C>T	9.37:g.100364973G>A						TSTD2_ENST00000375173.1_Silent_p.T39T|TSTD2_ENST00000375172.2_Intron	p.T443T	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN			10	1711	-			443					A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	Silent	SNP	ENST00000341170.4	37	c.1329C>T	CCDS6727.2																																																																																				0.527	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053325.4	NM_139246		3	126	0	0	0	1	0	3	126					A	100364973	G	A	100364973	2	1	458	1	0	0	0	0	0	0	0	1	16672	987	35	2		2	TSTD2	9	100364973	Silent	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	83928333	100364973	40848458	28	9337											
KIAA1958	158405	broad.mit.edu	37	chr9	115337082	115337082	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaacccaagcctcagactcAcgctggtccctcctgtgtag	8	15	2	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr9:115337082A>G	ENST00000337530.6	+	2	1018	c.722A>G	c.(721-723)cAc>cGc	p.H241R	KIAA1958_ENST00000374244.3_Missense_Mutation_p.H241R|KIAA1958_ENST00000536272.1_Missense_Mutation_p.H241R	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	241										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CCTCAGACTCACGCTGGTCCC	0.532																																						ENST00000337530.6																			0				endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						c.(721-723)cAc>cGc		KIAA1958							141	120	127					9																	115337082		2203	4300	6503	SO:0001583	missense	158405							g.chr9:115337082A>G	AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.722A>G	9.37:g.115337082A>G	ENSP00000336940:p.His241Arg					KIAA1958_ENST00000536272.1_Missense_Mutation_p.H241R|KIAA1958_ENST00000374244.3_Missense_Mutation_p.H241R	p.H241R	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN			2	1018	+			241					B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Missense_Mutation	SNP	ENST00000337530.6	37	c.722A>G	CCDS35108.1	.	.	.	.	.	.	.	.	.	.	A	11.60	1.688461	0.29962	.	.	ENSG00000165185	ENST00000337530;ENST00000374244;ENST00000536272	T;T;T	0.39056	1.1;1.1;1.1	6.07	6.07	0.98685	.	0.074603	0.56097	D	0.000029	T	0.24236	0.0587	N	0.14661	0.345	0.35834	D	0.825546	P;B	0.42827	0.791;0.396	B;B	0.37650	0.255;0.043	T	0.32241	-0.9914	10	0.44086	T	0.13	-7.9383	8.2071	0.31463	0.7311:0.1373:0.0:0.1316	.	241;241	B7ZKW6;Q8N8K9	.;K1958_HUMAN	R	241	ENSP00000336940:H241R;ENSP00000363362:H241R;ENSP00000440504:H241R	ENSP00000336940:H241R	H	+	2	0	KIAA1958	114376903	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.007000	0.57093	2.326000	0.78906	0.533000	0.62120	CAC		0.532	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465		50	132	0	0	0	1	0	50	132					G	115337082	A	G	115337082	3	3	458	1	0	0	0	0	1	0	0	0	8264	159	6	3	724	3	KIAA1958	9	115337082	Missense_Mutation	SNP	A	TCGA-IM-A3U2-01A-21D-A22D-08	14972109	115337082	25876349	29	9338											
PDCD11	22984	broad.mit.edu	37	chr10	105165806	105165806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggacattggtgttgatgGgaccagagcttttctgccac	13	8	1	2			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr10:105165806G>A	ENST00000369797.3	+	6	723	c.629G>A	c.(628-630)gGg>gAg	p.G210E		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	210	S1 motif 2. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GGTGTTGATGGGACCAGAGCT	0.512																																						ENST00000369797.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(628-630)gGg>gAg		programmed cell death 11							150	140	144					10																	105165806		2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105165806G>A	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.629G>A	10.37:g.105165806G>A	ENSP00000358812:p.Gly210Glu						p.G210E	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	6	723	+		Colorectal(252;0.0747)|Breast(234;0.128)	210			S1 motif 2.		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.629G>A	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372943	0.82573	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.51574	0.7	5.4	4.49	0.54785	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (2);	0.047340	0.85682	D	0.000000	T	0.55114	0.1900	L	0.58101	1.795	0.80722	D	1	P	0.49862	0.929	P	0.55087	0.768	T	0.55885	-0.8070	10	0.54805	T	0.06	-26.2267	9.756	0.40504	0.0778:0.1429:0.7793:0.0	.	210	Q14690	RRP5_HUMAN	E	210	ENSP00000358812:G210E	ENSP00000358812:G210E	G	+	2	0	PDCD11	105155796	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	4.772000	0.62324	2.537000	0.85549	0.555000	0.69702	GGG		0.512	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			3	176	0	0	0	1	0	3	176					A	105165806	G	A	105165806	3	1	458	1	0	0	0	0	1	0	0	0	11617	1232	43	2	647	2	PDCD11	10	105165806	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08		105165806	30368941	30	9339											
ZNF195	7748	broad.mit.edu	37	chr11	3380510	3380510	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattcgtcacatttgtagggTttctctccagtatgggtttt	9	8	2	0			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr11:3380510T>C	ENST00000399602.4	-	6	1854	c.1728A>G	c.(1726-1728)aaA>aaG	p.K576K	ZNF195_ENST00000005082.9_Silent_p.K553K|ZNF195_ENST00000343338.7_Silent_p.K508K|ZNF195_ENST00000526601.1_Silent_p.K557K|ZNF195_ENST00000429541.2_Silent_p.K508K|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000354599.6_Silent_p.K504K	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	576					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATTTGTAGGGTTTCTCTCCAG	0.393																																						ENST00000354599.6																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(1510-1512)aaA>aaG		zinc finger protein 195																																				SO:0001819	synonymous_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:3380510T>C		CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"Zinc fingers, C2H2-type", "-"	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.1728A>G	11.37:g.3380510T>C						ZNF195_ENST00000343338.7_Silent_p.K508K|ZNF195_ENST00000399602.4_Silent_p.K576K|ZNF195_ENST00000005082.9_Silent_p.K553K|ZNF195_ENST00000526601.1_Silent_p.K557K|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000429541.2_Silent_p.K508K	p.K504K	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)	4	1616	-		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)	576					A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Silent	SNP	ENST00000399602.4	37	c.1512A>G	CCDS44522.1																																																																																				0.393	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2			3	113	0	0	0	1	0	3	113					C	3380510	T	C	3380510	2	2	458	1	0	0	0	0	0	0	0	1	17755	1722	60	3		3	ZNF195	11	3380510	Silent	SNP	T	TCGA-IM-A3U2-01A-21D-A22D-08		3380510	131626006	31	9340											
NAV2	89797	broad.mit.edu	37	chr11	19955323	19955323	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaagagagcctctgtgacGgagaggctggacctcaagga	15	10	2	3	rs375524165		TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr11:19955323G>A	ENST00000396087.3	+	8	1701	c.1602G>A	c.(1600-1602)acG>acA	p.T534T	NAV2_ENST00000527559.2_Silent_p.T463T|NAV2_ENST00000360655.4_Silent_p.T447T|NAV2_ENST00000396085.1_Silent_p.T511T|NAV2_ENST00000540292.1_Silent_p.T465T|NAV2_ENST00000349880.4_Silent_p.T511T	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	534					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)	p.T534T(1)		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						CCTCTGTGACGGAGAGGCTGG	0.517																																						ENST00000396085.1																			1	Substitution - coding silent(1)	p.T534T(1)	endometrium(1)	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.(1531-1533)acG>acA		neuron navigator 2		G	,,	1,4397	2.1+/-5.4	0,1,2198	95	110	105		1341,1533,1533	-10.3	0.0	11		105	1,8585	1.2+/-3.3	0,1,4292	no	coding-synonymous,coding-synonymous,coding-synonymous	NAV2	NM_001111018.1,NM_145117.4,NM_182964.5	,,	0,2,6490	AA,AG,GG		0.0116,0.0227,0.0154	,,	447/2366,511/2430,511/2433	19955323	2,12982	2199	4293	6492	SO:0001819	synonymous_variant	89797					nucleus	ATP binding|helicase activity	g.chr11:19955323G>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.1602G>A	11.37:g.19955323G>A						NAV2_ENST00000540292.1_Silent_p.T465T|NAV2_ENST00000360655.4_Silent_p.T447T|NAV2_ENST00000396087.3_Silent_p.T534T|NAV2_ENST00000527559.2_Silent_p.T463T|NAV2_ENST00000349880.4_Silent_p.T511T	p.T511T	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			7	1894	+			534					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	c.1533G>A	CCDS58126.1																																																																																				0.517	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		3	102	0	0	0	1	0	3	102					A	19955323	G	A	19955323	2	1	458	1	0	0	0	0	0	0	0	1	10184	1103	39	1		1	NAV2	11	19955323	Silent	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	16574813	19955323	115051193	32	9341											
HNRNPUL2	221092	broad.mit.edu	37	chr11	62494174	62494174	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcgggttcgtcttcctccCtcttgccgaggccctgctct	9	18	3	0			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr11:62494174C>T	ENST00000301785.5	-	1	647	c.455G>A	c.(454-456)aGg>aAg	p.R152K	HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.R152K|TTC9C_ENST00000316461.4_5'Flank|TTC9C_ENST00000513247.2_5'Flank|TTC9C_ENST00000532583.1_5'Flank	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	152	Glu-rich. {ECO:0000255}.					membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GTCTTCCTCCCTCTTGCCGAG	0.706																																						ENST00000301785.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(454-456)aGg>aAg		heterogeneous nuclear ribonucleoprotein U-like 2							18	22	21					11																	62494174		1958	4147	6105	SO:0001583	missense	221092				cell killing	nucleus	ATP binding|nucleic acid binding	g.chr11:62494174C>T		CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.455G>A	11.37:g.62494174C>T	ENSP00000301785:p.Arg152Lys					RP11-831H9.16_ENST00000403734.2_Missense_Mutation_p.R152K	p.R152K	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN			1	647	-			152			Glu-rich.		Q8N3B3	Missense_Mutation	SNP	ENST00000301785.5	37	c.455G>A	CCDS41659.1	.	.	.	.	.	.	.	.	.	.	C	5.282	0.237388	0.10023	.	.	ENSG00000214753	ENST00000301785	T	0.63096	-0.02	4.11	3.18	0.36537	.	0.310182	0.30446	N	0.009616	T	0.31513	0.0799	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.26467	-1.0102	10	0.02654	T	1	-2.225	6.2835	0.21021	0.0:0.7029:0.192:0.1051	.	152	Q1KMD3	HNRL2_HUMAN	K	152	ENSP00000301785:R152K	ENSP00000301785:R152K	R	-	2	0	HNRNPUL2	62250750	0.004000	0.15560	0.939000	0.37840	0.457000	0.32468	0.695000	0.25527	1.019000	0.39547	0.462000	0.41574	AGG		0.706	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877		17	34	0	0	0	1	0	17	34					T	62494174	C	T	62494174	3	4	458	1	0	0	0	0	1	0	0	0	7275	681	24	2	1844	2	HNRNPUL2	11	62494174	Missense_Mutation	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08	42538851	62494174	72512342	33	9342											
KDM2A	22992	broad.mit.edu	37	chr11	67012703	67012703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcgggttcctaccatccCcattacgaagcctcacacta	8	15	1	0			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr11:67012703C>T	ENST00000529006.2	+	14	2053	c.1607C>T	c.(1606-1608)cCc>cTc	p.P536L	KDM2A_ENST00000398645.2_Missense_Mutation_p.P536L|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000308783.5_5'UTR|KDM2A_ENST00000530342.1_Missense_Mutation_p.P97L	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	536					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						CCTACCATCCCCATTACGAAG	0.527																																						ENST00000529006.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						c.(1606-1608)cCc>cTc		lysine (K)-specific demethylase 2A							153	159	157					11																	67012703		1968	4122	6090	SO:0001583	missense	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:67012703C>T	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13606	protein-coding gene	gene with protein product	"F-box protein FBL11", "jumonji C domain-containing histone demethylase 1A"	605657	"F-box and leucine-rich repeat protein 11"	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.1607C>T	11.37:g.67012703C>T	ENSP00000432786:p.Pro536Leu					KDM2A_ENST00000308783.5_5'UTR|KDM2A_ENST00000530342.1_Missense_Mutation_p.P97L|KDM2A_ENST00000398645.2_Missense_Mutation_p.P536L|KDM2A_ENST00000526258.1_3'UTR	p.P536L	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN			14	2053	+			536					D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	ENST00000529006.2	37	c.1607C>T	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413809	0.83449	.	.	ENSG00000173120	ENST00000398645;ENST00000529006;ENST00000530342;ENST00000446134	T;T;T	0.48522	0.81;2.12;1.74	5.36	5.36	0.76844	.	0.107024	0.64402	D	0.000003	T	0.30916	0.0780	N	0.14661	0.345	0.80722	D	1	P	0.35383	0.498	B	0.26864	0.074	T	0.17228	-1.0376	10	0.46703	T	0.11	-16.3043	17.461	0.87620	0.0:1.0:0.0:0.0	.	536	Q9Y2K7	KDM2A_HUMAN	L	536;536;97;97	ENSP00000381640:P536L;ENSP00000432786:P536L;ENSP00000435776:P97L	ENSP00000381640:P536L	P	+	2	0	KDM2A	66769279	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.075000	0.50073	2.793000	0.96121	0.650000	0.86243	CCC		0.527	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		109	203	0	0	0	1	0	109	203					T	67012703	C	T	67012703	3	4	458	1	0	0	0	0	1	0	0	0	8124	623	22	2	1657	2	KDM2A	11	67012703	Missense_Mutation	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08	4518529	67012703	67993813	34	9343											
SUV420H1	51111	broad.mit.edu	37	chr11	67925361	67925361	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcctcatactgactatAgtcatccacctccattcgag	4	14	3	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr11:67925361A>G	ENST00000304363.4	-	11	2805	c.2452T>C	c.(2452-2454)Tat>Cat	p.Y818H		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	818					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TACTGACTATAGTCATCCACC	0.448																																						ENST00000304363.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(2452-2454)Tat>Cat		suppressor of variegation 4-20 homolog 1 (Drosophila)							141	149	147					11																	67925361		2200	4294	6494	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67925361A>G	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"Chromatin-modifying enzymes / K-methyltransferases"	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.2452T>C	11.37:g.67925361A>G	ENSP00000305899:p.Tyr818His						p.Y818H	NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN			11	2805	-			818					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.2452T>C	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	A	13.94	2.387423	0.42308	.	.	ENSG00000110066	ENST00000304363	T	0.46819	0.86	5.71	5.71	0.89125	.	0.381500	0.28989	N	0.013489	T	0.50051	0.1593	L	0.27053	0.805	0.80722	D	1	D	0.67145	0.996	P	0.56700	0.804	T	0.43956	-0.9359	10	0.31617	T	0.26	-20.6141	15.9773	0.80079	1.0:0.0:0.0:0.0	.	818	Q4FZB7	SV421_HUMAN	H	818	ENSP00000305899:Y818H	ENSP00000305899:Y818H	Y	-	1	0	SUV420H1	67681937	1.000000	0.71417	0.998000	0.56505	0.671000	0.39405	6.373000	0.73128	2.189000	0.69895	0.402000	0.26972	TAT		0.448	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		62	106	0	0	0	1	0	62	106					G	67925361	A	G	67925361	3	3	458	1	0	0	0	0	1	0	0	0	15411	420	15	3	209	3	SUV420H1	11	67925361	Missense_Mutation	SNP	A	TCGA-IM-A3U2-01A-21D-A22D-08	912658	67925361	67081155	35	9344											
SAPS3	55291	broad.mit.edu	37	chr11	68331877	68331877	+	Frame_Shift_Del	DEL	G	G	-													gaagacttggatcttttcatGaactcctgctggagccaccc							TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr11:68331877delG	ENST00000393800.2	+	9	1206	c.952delG	c.(952-954)gaafs	p.E318fs	PPP6R3_ENST00000265637.4_Frame_Shift_Del_p.E318fs|PPP6R3_ENST00000524904.1_Frame_Shift_Del_p.E318fs|PPP6R3_ENST00000393801.3_Frame_Shift_Del_p.E318fs|PPP6R3_ENST00000265636.5_Frame_Shift_Del_p.E318fs|PPP6R3_ENST00000393799.2_Frame_Shift_Del_p.E318fs|PPP6R3_ENST00000524845.1_Frame_Shift_Del_p.E318fs|PPP6R3_ENST00000527403.2_Frame_Shift_Del_p.E318fs|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000529710.1_Frame_Shift_Del_p.E318fs	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	318					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ATCTTTTCATGAACTCCTGCT	0.483																																						ENST00000393799.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(952-954)aafs		protein phosphatase 6, regulatory subunit 3							110	109	110					11																	68331877		2200	4294	6494	SO:0001589	frameshift_variant	55291				regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	g.chr11:68331877delG	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	1173	protein-coding gene	gene with protein product	"sporulation-induced transcript 4-associated protein"	610879	"chromosome 11 open reading frame 23", "SAPS domain family, member 3"	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.952delG	11.37:g.68331877delG	ENSP00000377389:p.Glu318fs					PPP6R3_ENST00000265636.5_Frame_Shift_Del_p.E318fs|PPP6R3_ENST00000524904.1_Frame_Shift_Del_p.E318fs|PPP6R3_ENST00000393800.2_Frame_Shift_Del_p.E318fs|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000529710.1_Frame_Shift_Del_p.E318fs|PPP6R3_ENST00000393801.3_Frame_Shift_Del_p.E318fs|PPP6R3_ENST00000527403.2_Frame_Shift_Del_p.E318fs|PPP6R3_ENST00000265637.4_Frame_Shift_Del_p.E318fs|PPP6R3_ENST00000524845.1_Frame_Shift_Del_p.E318fs	p.E318fs			Q5H9R7	PP6R3_HUMAN			9	1219	+			318					Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Frame_Shift_Del	DEL	ENST00000393800.2	37	c.952delG	CCDS53672.1																																																																																				0.483	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		52	188						52	188	---	---	---	---	-	68331877	G	-	68331877	7	5	458	1	0	1	0	1	0	0	0	0	13838	1291	45	0	978	0	SAPS3	11	68331877	Frame_Shift_Del	DEL	G	TCGA-IM-A3U2-01A-21D-A22D-08	406516	68331877	66674639	36	9345											
POU2AF1	5450	broad.mit.edu	37	chr11	111228348	111228348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggggctgcagggtggccGgggtgggctgggagagccag	23	9	0	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr11:111228348G>A	ENST00000393067.3	-	4	792	c.278C>T	c.(277-279)cCg>cTg	p.P93L		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	93					humoral immune response (GO:0006959)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		CAGGGTGGCCGGGGTGGGCTG	0.627			T	BCL6	NHL																																	ENST00000393067.3				Dom	yes		11	11q23.1	5450	T	"POU domain, class 2, associating factor 1 (OBF1)"			L	BCL6		NHL		0				breast(1)|kidney(2)|lung(2)	5						c.(277-279)cCg>cTg		POU class 2 associating factor 1							25	26	26					11																	111228348		2201	4296	6497	SO:0001583	missense	5450				humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr11:111228348G>A		CCDS31675.1	11q23.1	2011-06-01	2007-07-13			ENSG00000110777			9211	protein-coding gene	gene with protein product		601206	"POU domain class 2, associating factor 1"			8617501	Standard	NM_006235		Approved	OBF1	uc001plg.4	Q16633		ENST00000393067.3:c.278C>T	11.37:g.111228348G>A	ENSP00000376786:p.Pro93Leu						p.P93L	NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)	4	792	-		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)	93					B2R8Z9|Q14983	Missense_Mutation	SNP	ENST00000393067.3	37	c.278C>T	CCDS31675.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.256272	0.59321	.	.	ENSG00000110777	ENST00000393067;ENST00000531398	T;T	0.32753	1.44;1.44	5.16	4.24	0.50183	.	0.347372	0.30547	N	0.009398	T	0.25680	0.0625	L	0.43152	1.355	0.47214	D	0.999352	P	0.44090	0.826	B	0.35859	0.212	T	0.05162	-1.0902	10	0.52906	T	0.07	-25.191	14.7413	0.69458	0.0:0.0:0.854:0.146	.	93	Q16633	OBF1_HUMAN	L	93;95	ENSP00000376786:P93L;ENSP00000433527:P95L	ENSP00000376786:P93L	P	-	2	0	POU2AF1	110733558	1.000000	0.71417	0.991000	0.47740	0.493000	0.33554	3.462000	0.53042	1.162000	0.42619	0.498000	0.49722	CCG		0.627	POU2AF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391002.1	NM_006235		3	68	0	0	0	1	0	3	68					A	111228348	G	A	111228348	3	1	458	1	0	0	0	0	1	0	0	0	12270	1116	39	1	500	1	POU2AF1	11	111228348	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	42896471	111228348	23778168	37	9346											
LGR5	8549	broad.mit.edu	37	chr12	71978313	71978313	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaaagcaaacctacgtctgGacaagatcaaaacacccaag	7	11	2	2			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr12:71978313G>A	ENST00000266674.5	+	18	2834	c.2523G>A	c.(2521-2523)tgG>tgA	p.W841*	RP11-186F10.2_ENST00000546601.1_RNA|LGR5_ENST00000540815.2_Nonsense_Mutation_p.W817*|LGR5_ENST00000536515.1_Nonsense_Mutation_p.W769*			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	841					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CCTACGTCTGGACAAGATCAA	0.448																																						ENST00000266674.5																		NUP107/LGR5(2)	0				endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						c.(2521-2523)tgG>tgA		leucine-rich repeat containing G protein-coupled receptor 5							132	126	128					12																	71978313		2203	4300	6503	SO:0001587	stop_gained	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71978313G>A	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"GPCR / Class A : Orphans"	4504	protein-coding gene	gene with protein product		606667	"G protein-coupled receptor 49", "leucine-rich repeat-containing G protein-coupled receptor 5"	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.2523G>A	12.37:g.71978313G>A	ENSP00000266674:p.Trp841*					LGR5_ENST00000540815.2_Nonsense_Mutation_p.W817*|LGR5_ENST00000536515.1_Nonsense_Mutation_p.W769*	p.W841*			O75473	LGR5_HUMAN			18	2834	+			841					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Nonsense_Mutation	SNP	ENST00000266674.5	37	c.2523G>A	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	G	36	5.783628	0.96937	.	.	ENSG00000139292	ENST00000266674;ENST00000536515;ENST00000540815	.	.	.	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	19.3434	0.94355	0.0:0.0:1.0:0.0	.	.	.	.	X	841;769;817	.	ENSP00000266674:W841X	W	+	3	0	LGR5	70264580	1.000000	0.71417	0.931000	0.37212	0.554000	0.35429	5.417000	0.66423	2.812000	0.96745	0.557000	0.71058	TGG		0.448	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		25	51	0	0	0	1	0	25	51					A	71978313	G	A	71978313	4	1	458	1	0	0	0	0	0	1	0	0	8757	1183	41	2	2593	2	LGR5	12	71978313	Nonsense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08		71978313	61873582	38	9347											
ARHGDIG	398	broad.mit.edu	37	chr16	332688	332688	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtttgtgactccggtggaGgaagcgccgaggggtgcgct	19	8	0	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr16:332688G>A	ENST00000219409.3	+	6	627	c.552G>A	c.(550-552)gaG>gaA	p.E184E	PDIA2_ENST00000219406.6_5'Flank|PDIA2_ENST00000404312.1_5'Flank	NM_001176.3	NP_001167.2	Q99819	GDIR3_HUMAN	Rho GDP dissociation inhibitor (GDI) gamma	184					negative regulation of cell adhesion (GO:0007162)|regulation of protein localization (GO:0032880)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)			breast(1)|central_nervous_system(1)|large_intestine(1)	3		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CTCCGGTGGAGGAAGCGCCGA	0.642																																						ENST00000219409.3																			0				breast(1)|central_nervous_system(1)|large_intestine(1)	3						c.(550-552)gaG>gaA		Rho GDP dissociation inhibitor (GDI) gamma							34	32	33					16																	332688		2200	4298	6498	SO:0001819	synonymous_variant	398				negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity	g.chr16:332688G>A	U82532	CCDS10404.1	16p13.3	2008-07-29			ENSG00000242173	ENSG00000242173			680	protein-coding gene	gene with protein product	"RhoGDI gamma"	602844				9113980, 11967128	Standard	NM_001176		Approved	RHOGDI-3	uc002cgm.1	Q99819	OTTHUMG00000064892	ENST00000219409.3:c.552G>A	16.37:g.332688G>A							p.E184E	NM_001176.3	NP_001167.2	Q99819	GDIR3_HUMAN			6	627	+		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)	184					Q4TT69|Q96S29	Silent	SNP	ENST00000219409.3	37	c.552G>A	CCDS10404.1																																																																																				0.642	ARHGDIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139321.1			3	36	0	0	0	1	0	3	36					A	332688	G	A	332688	2	1	458	1	0	0	0	0	0	0	0	1	892	991	35	2		2	ARHGDIG	16	332688	Silent	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08		332688	90022065	39	9348											
C16orf11	146325	broad.mit.edu	37	chr16	613508	613508	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgtccctgctgctagactccCcagactgggcgtgccgccgt	12	16	0	2			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr16:613508C>G	ENST00000409413.3	+	2	493	c.214C>G	c.(214-216)Cca>Gca	p.P72A		NM_145270.2	NP_660313.1	P0CG20	PRR35_HUMAN		72										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						GCTAGACTCCCCAGACTGGGC	0.662																																						ENST00000409413.3																			0				central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(214-216)Cca>Gca		chromosome 16 open reading frame 11							78	83	81					16																	613508		2067	4183	6250	SO:0001583	missense	146325							g.chr16:613508C>G																												ENST00000409413.3:c.214C>G	16.37:g.613508C>G	ENSP00000386499:p.Pro72Ala						p.P72A	NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN			2	493	+			72					B8ZZ27|Q8N233|Q96AX3|Q96S23	Missense_Mutation	SNP	ENST00000409413.3	37	c.214C>G	CCDS45365.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.238020	0.39598	.	.	ENSG00000161992	ENST00000409413	.	.	.	5.19	4.02	0.46733	.	0.164918	0.29165	N	0.012955	T	0.50292	0.1607	M	0.62723	1.935	0.27116	N	0.962257	D	0.56035	0.974	P	0.54270	0.747	T	0.46105	-0.9215	9	0.62326	D	0.03	.	9.5396	0.39244	0.0:0.8866:0.0:0.1134	.	72	P0CG20	CP011_HUMAN	A	72	.	ENSP00000386499:P72A	P	+	1	0	C16orf11	553509	0.831000	0.29352	0.957000	0.39632	0.147000	0.21601	0.535000	0.23114	2.422000	0.82143	0.557000	0.71058	CCA		0.662	C16orf11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000333913.1			15	35	0	0	0	1	0	15	35					G	613508	C	G	613508	3	3	458	1	0	0	0	0	1	0	0	0	1810	623	22	4	216	4	C16orf11	16	613508	Missense_Mutation	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08	280820	613508	89741245	40	9349											
LCMT1	51451	broad.mit.edu	37	chr16	25175977	25175977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatgactccagagcagtccGcaaacctcctgaagtgggca	10	13	0	3			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr16:25175977G>A	ENST00000399069.3	+	7	783	c.628G>A	c.(628-630)Gca>Aca	p.A210T	LCMT1_ENST00000572869.1_3'UTR|LCMT1_ENST00000380966.4_Missense_Mutation_p.A155T	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	210					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	AGAGCAGTCCGCAAACCTCCT	0.428																																					Colon(200;565 2072 24396 47922 50898)	ENST00000399069.3																			0											c.(628-630)Gca>Aca		leucine carboxyl methyltransferase 1	L-Leucine(DB00149)						106	100	102					16																	25175977		1921	4151	6072	SO:0001583	missense	51451						protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity	g.chr16:25175977G>A	AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"protein phosphatase methyltransferase 1"	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.628G>A	16.37:g.25175977G>A	ENSP00000382021:p.Ala210Thr					LCMT1_ENST00000380966.4_Missense_Mutation_p.A155T|LCMT1_ENST00000572869.1_3'UTR	p.A210T	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN		GBM - Glioblastoma multiforme(48;0.0336)	7	783	+			210					A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Missense_Mutation	SNP	ENST00000399069.3	37	c.628G>A	CCDS45445.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.008454	0.35415	.	.	ENSG00000205629	ENST00000399069;ENST00000380966;ENST00000380962	T;T	0.23754	1.93;1.89	5.83	4.87	0.63330	.	0.054809	0.85682	D	0.000000	T	0.21590	0.0520	L	0.56769	1.78	0.49051	D	0.999742	B;P	0.36683	0.31;0.565	B;B	0.27715	0.041;0.082	T	0.04103	-1.0977	10	0.16420	T	0.52	-14.865	13.0896	0.59160	0.0783:0.0:0.9217:0.0	.	155;210	Q9UIC8-3;Q9UIC8	.;LCMT1_HUMAN	T	210;155;227	ENSP00000382021:A210T;ENSP00000370353:A155T	ENSP00000370349:A227T	A	+	1	0	LCMT1	25083478	1.000000	0.71417	0.993000	0.49108	0.948000	0.59901	5.359000	0.66074	1.449000	0.47699	0.563000	0.77884	GCA		0.428	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435747.4	NM_016309		3	131	0	0	0	1	0	3	131					A	25175977	G	A	25175977	3	1	458	1	0	0	0	0	1	0	0	0	8678	1087	38	1	654	1	LCMT1	16	25175977	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	24562469	25175977	65178776	41	9350											
NFAT5	10725	broad.mit.edu	37	chr16	69726422	69726422	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacacgttatctaatcaacaGcagcagcagcagcagcaaca	7	12	2	0	rs369235958		TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr16:69726422G>A	ENST00000354436.2	+	12	2958	c.2640G>A	c.(2638-2640)caG>caA	p.Q880Q	NFAT5_ENST00000349945.1_Silent_p.Q804Q|NFAT5_ENST00000567239.1_Silent_p.Q897Q|NFAT5_ENST00000566899.1_Silent_p.Q804Q|NFAT5_ENST00000393742.2_Silent_p.Q804Q|NFAT5_ENST00000432919.1_Silent_p.Q898Q	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	880	Poly-Gln.				cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q804Q(1)|p.Q898Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTAATcaacagcagcagcagc	0.478																																						ENST00000349945.1																			2	Substitution - coding silent(2)	p.Q804Q(1)|p.Q898Q(1)	endometrium(2)	NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2410-2412)caG>caA		nuclear factor of activated T-cells 5, tonicity-responsive							44	43	43					16																	69726422		2198	4300	6498	SO:0001819	synonymous_variant	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69726422G>A	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"Nuclear factor of activated T-cells"	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.2640G>A	16.37:g.69726422G>A						NFAT5_ENST00000393742.2_Silent_p.Q804Q|NFAT5_ENST00000566899.1_Silent_p.Q804Q|NFAT5_ENST00000567239.1_Silent_p.Q897Q|NFAT5_ENST00000432919.1_Silent_p.Q898Q|NFAT5_ENST00000354436.2_Silent_p.Q880Q	p.Q804Q	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			14	3964	+			880					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Silent	SNP	ENST00000354436.2	37	c.2412G>A	CCDS10881.1																																																																																				0.478	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		3	63	0	0	0	1	0	3	63					A	69726422	G	A	69726422	2	1	458	1	0	0	0	0	0	0	0	1	10360	962	34	2		2	NFAT5	16	69726422	Silent	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	44550445	69726422	20628331	42	9351											
ZNHIT3	9326	broad.mit.edu	37	chr17	34842567	34842567	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtcgctcaaatgtagcacCgtcgtctgcgtgatctgctt	11	12	3	1	rs139241535	byFrequency	TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr17:34842567C>T	ENST00000225410.4	+	1	89	c.24C>T	c.(22-24)acC>acT	p.T8T	ZNHIT3_ENST00000490126.2_5'UTR|ZNHIT3_ENST00000592616.1_Silent_p.T8T|ZNHIT3_ENST00000588253.1_5'UTR|ZNHIT3_ENST00000590858.1_5'UTR	NM_004773.2	NP_004764.1	Q15649	ZNHI3_HUMAN	zinc finger, HIT-type containing 3	8					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			lung(1)|pancreas(1)|prostate(1)	3		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0188)		AATGTAGCACCGTCGTCTGCG	0.657													C|||	5	0.000998403	0.0038	0	5008	,	,		14163	0		0	False		,,,				2504	0				Pancreas(89;112 2361 26810)	ENST00000225410.4																			0				lung(1)|pancreas(1)|prostate(1)	3						c.(22-24)acC>acT		zinc finger, HIT-type containing 3		C		19,4387		0,19,2184	124	117	119		24	-8.6	0.0	17	dbSNP_134	119	0,8600		0,0,4300	no	coding-synonymous	ZNHIT3	NM_004773.2		0,19,6484	TT,TC,CC		0.0,0.4312,0.1461		8/156	34842567	19,12987	2203	4300	6503	SO:0001819	synonymous_variant	9326				regulation of transcription, DNA-dependent	intracellular	metal ion binding|thyroid hormone receptor binding	g.chr17:34842567C>T	L40410	CCDS11312.1, CCDS62156.1	17q21.1	2014-04-10	2010-09-15	2005-09-08	ENSG00000108278	ENSG00000273611		"Zinc fingers, HIT-type"	12309	protein-coding gene	gene with protein product		604500	"thyroid hormone receptor interactor 3", "zinc finger, HIT type 3"	TRIP3		7776974	Standard	NM_004773		Approved		uc002hms.1	Q15649	OTTHUMG00000188436	ENST00000225410.4:c.24C>T	17.37:g.34842567C>T						ZNHIT3_ENST00000588253.1_5'UTR|ZNHIT3_ENST00000490126.2_5'UTR|ZNHIT3_ENST00000590858.1_5'UTR|ZNHIT3_ENST00000592616.1_Silent_p.T8T	p.T8T	NM_004773.2	NP_004764.1	Q15649	ZNHI3_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0188)	1	89	+		Breast(25;0.00957)|Ovarian(249;0.17)	8					A8K493|K7EQP1|Q8WVJ3	Silent	SNP	ENST00000225410.4	37	c.24C>T	CCDS11312.1																																																																																				0.657	ZNHIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256697.1	NM_004773		11	401	0	0	0	1	0	11	401					T	34842567	C	T	34842567	2	4	458	1	0	0	0	0	0	0	0	1	18205	639	23	1		1	ZNHIT3	17	34842567	Silent	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08		34842567	46352643	43	9352											
MYO19	80179	broad.mit.edu	37	chr17	34870998	34870998	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acttcccaaagcgactgctgTtgttattcctcagtgtacac	7	12	1	0			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr17:34870998T>A	ENST00000431794.3	-	8	1097	c.575A>T	c.(574-576)aAc>aTc	p.N192I	MYO19_ENST00000268852.9_Missense_Mutation_p.N192I|MYO19_ENST00000544606.1_Missense_Mutation_p.N58I|MYO19_ENST00000586007.1_Missense_Mutation_p.N192I	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	192	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCGACTGCTGTTGTTATTCCT	0.517																																						ENST00000431794.3																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20						c.(574-576)aAc>aTc		myosin XIX							127	118	121					17																	34870998		1976	4146	6122	SO:0001583	missense	80179					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr17:34870998T>A	BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"Myosins / Myosin superfamily : Class XIX"	26234	protein-coding gene	gene with protein product			"myosin head domain containing 1"	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.575A>T	17.37:g.34870998T>A	ENSP00000409936:p.Asn192Ile					MYO19_ENST00000268852.9_Missense_Mutation_p.N192I|MYO19_ENST00000586007.1_Missense_Mutation_p.N192I|MYO19_ENST00000544606.1_Missense_Mutation_p.N58I	p.N192I	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	8	1097	-		Breast(25;0.00957)|Ovarian(249;0.17)	192			Myosin head-like.		Q59GS4|Q9H5X2	Missense_Mutation	SNP	ENST00000431794.3	37	c.575A>T	CCDS54112.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.034666	0.93575	.	.	ENSG00000141140	ENST00000431794;ENST00000268852;ENST00000544606	D;D;D	0.97041	-4.22;-4.22;-4.22	5.92	5.92	0.95590	Myosin head, motor domain (3);	0.000000	0.46442	D	0.000283	D	0.99133	0.9701	H	0.98487	4.245	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	0.99010	1.0814	10	0.87932	D	0	.	15.1902	0.73038	0.0:0.0:0.0:1.0	.	58;192;192;192	B4DSL5;Q96H55;Q96H55-2;Q96H55-4	.;MYO19_HUMAN;.;.	I	192;192;58	ENSP00000409936:N192I;ENSP00000268852:N192I;ENSP00000438365:N58I	ENSP00000268852:N192I	N	-	2	0	MYO19	31945111	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.448000	0.80631	2.274000	0.75844	0.533000	0.62120	AAC		0.517	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109		10	34	0	0	0	1	0	10	34					A	34870998	T	A	34870998	3	1	458	1	0	0	0	0	1	0	0	0	10067	1725	60	5	2473	5	MYO19	17	34870998	Missense_Mutation	SNP	T	TCGA-IM-A3U2-01A-21D-A22D-08	28431	34870998	46324212	44	9353											
GRB7	2886	broad.mit.edu	37	chr17	37901566	37901566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcatccatcttgtttgggctCcccacccttggtgagtgtgc	11	13	1	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr17:37901566C>T	ENST00000309156.4	+	10	1339	c.1082C>T	c.(1081-1083)tCc>tTc	p.S361F	GRB7_ENST00000394209.2_Missense_Mutation_p.S361F|GRB7_ENST00000445327.2_Missense_Mutation_p.S384F|GRB7_ENST00000309185.3_Missense_Mutation_p.S361F|GRB7_ENST00000394204.1_Missense_Mutation_p.S361F|GRB7_ENST00000394211.3_Missense_Mutation_p.S361F	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	361					blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGTTTGGGCTCCCCACCCTTG	0.592																																						ENST00000309156.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1081-1083)tCc>tTc		growth factor receptor-bound protein 7							65	58	60					17																	37901566		2203	4300	6503	SO:0001583	missense	2886				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity	g.chr17:37901566C>T	D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.1082C>T	17.37:g.37901566C>T	ENSP00000310771:p.Ser361Phe					GRB7_ENST00000394209.2_Missense_Mutation_p.S361F|GRB7_ENST00000394211.3_Missense_Mutation_p.S361F|GRB7_ENST00000394204.1_Missense_Mutation_p.S361F|GRB7_ENST00000445327.2_Missense_Mutation_p.S384F|GRB7_ENST00000309185.3_Missense_Mutation_p.S361F	p.S361F	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		10	1339	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		361					B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	ENST00000309156.4	37	c.1082C>T	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	C	9.750	1.167274	0.21621	.	.	ENSG00000141738	ENST00000309185;ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327;ENST00000394204	T;T;T;T;T;T	0.58210	0.35;1.5;1.5;1.5;1.48;0.35	5.84	5.84	0.93424	.	0.401285	0.30109	N	0.010391	T	0.53981	0.1830	L	0.39147	1.195	0.20703	N	0.999866	D;B	0.54964	0.969;0.002	P;B	0.47827	0.558;0.01	T	0.54330	-0.8310	10	0.66056	D	0.02	-37.4214	17.916	0.88950	0.0:1.0:0.0:0.0	.	361;361	Q14451-2;Q14451	.;GRB7_HUMAN	F	361;361;361;361;384;361	ENSP00000311752:S361F;ENSP00000310771:S361F;ENSP00000377761:S361F;ENSP00000377759:S361F;ENSP00000403459:S384F;ENSP00000377754:S361F	ENSP00000310771:S361F	S	+	2	0	GRB7	35155092	0.316000	0.24580	0.887000	0.34795	0.103000	0.19146	2.583000	0.46094	2.768000	0.95171	0.561000	0.74099	TCC		0.592	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310		21	90	0	0	0	1	0	21	90					T	37901566	C	T	37901566	3	4	458	1	0	0	0	0	1	0	0	0	6759	855	30	2	1116	2	GRB7	17	37901566	Missense_Mutation	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08	3030568	37901566	43293644	45	9354											
AP3D1	8943	broad.mit.edu	37	chr19	2129435	2129435	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggccagctcgcagatgacaTtgacggcagccgactgaacc	12	13	0	4			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:2129435T>C	ENST00000345016.5	-	7	845	c.614A>G	c.(613-615)aAt>aGt	p.N205S	AP3D1_ENST00000356926.4_Intron|AP3D1_ENST00000350812.6_Intron|AP3D1_ENST00000590683.1_5'Flank|AP3D1_ENST00000355272.6_Missense_Mutation_p.N205S	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	205					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		GCAGATGACATTGACGGCAGC	0.577																																						ENST00000355272.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(613-615)aAt>aGt		adaptor-related protein complex 3, delta 1 subunit							99	105	103					19																	2129435		1983	4162	6145	SO:0001583	missense	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2129435T>C	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.614A>G	19.37:g.2129435T>C	ENSP00000344055:p.Asn205Ser					AP3D1_ENST00000356926.4_Intron|AP3D1_ENST00000345016.5_Missense_Mutation_p.N205S|AP3D1_ENST00000350812.6_Intron	p.N205S	NM_001261826.1	NP_001248755.1	O14617	AP3D1_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)	7	820	-		Hepatocellular(1079;0.137)	205					O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	37	c.614A>G	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	T	18.27	3.586684	0.66105	.	.	ENSG00000065000	ENST00000345016;ENST00000355272;ENST00000343722	T;T	0.12039	2.72;2.72	4.58	4.58	0.56647	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.33030	0.0849	M	0.62154	1.92	0.80722	D	1	D;D	0.71674	0.998;0.972	D;P	0.80764	0.994;0.896	T	0.03121	-1.1070	10	0.48119	T	0.1	-50.3823	13.4298	0.61049	0.0:0.0:0.0:1.0	.	205;205	O14617-5;O14617	.;AP3D1_HUMAN	S	205	ENSP00000344055:N205S;ENSP00000347416:N205S	ENSP00000341579:N205S	N	-	2	0	AP3D1	2080435	1.000000	0.71417	0.975000	0.42487	0.298000	0.27526	7.775000	0.85489	1.828000	0.53243	0.533000	0.62120	AAT		0.577	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			11	82	0	0	0	1	0	11	82					C	2129435	T	C	2129435	3	2	458	1	0	0	0	0	1	0	0	0	746	1493	52	3	3101	3	AP3D1	19	2129435	Missense_Mutation	SNP	T	TCGA-IM-A3U2-01A-21D-A22D-08		2129435	56999548	46	9355											
FBN3	84467	broad.mit.edu	37	chr19	8146248	8146248	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaggacatcacctttgcAggtcctgccatcctcctcca	7	15	1	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:8146248A>G	ENST00000600128.1	-	58	7744	c.7330T>C	c.(7330-7332)Tgc>Cgc	p.C2444R	FBN3_ENST00000270509.2_Missense_Mutation_p.C2444R|FBN3_ENST00000601739.1_Missense_Mutation_p.C2444R			Q75N90	FBN3_HUMAN	fibrillin 3	2444	EGF-like 39; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TCACCTTTGCAGGTCCTGCCA	0.587																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(7330-7332)Tgc>Cgc		fibrillin 3							78	71	73					19																	8146248		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8146248A>G		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.7330T>C	19.37:g.8146248A>G	ENSP00000470498:p.Cys2444Arg					FBN3_ENST00000601739.1_Missense_Mutation_p.C2444R|FBN3_ENST00000270509.2_Missense_Mutation_p.C2444R	p.C2444R			Q75N90	FBN3_HUMAN			58	7744	-			2444			EGF-like 39; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.7330T>C	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	A	16.45	3.126670	0.56721	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.99914	-7.98	4.82	4.82	0.62117	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.114302	0.64402	U	0.000009	D	0.99953	0.9980	H	0.99705	4.715	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.999;1.0	D	0.96008	0.8999	10	0.87932	D	0	.	14.3687	0.66823	1.0:0.0:0.0:0.0	.	2444;550	Q75N90;Q6ZNB8	FBN3_HUMAN;.	R	2444;550	ENSP00000270509:C2444R	ENSP00000270509:C2444R	C	-	1	0	FBN3	8052248	1.000000	0.71417	0.952000	0.39060	0.338000	0.28826	8.872000	0.92352	1.810000	0.52873	0.391000	0.25812	TGC		0.587	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		3	54	0	0	0	1	0	3	54					G	8146248	A	G	8146248	3	3	458	1	0	0	0	0	1	0	0	0	5704	188	7	3	1127	3	FBN3	19	8146248	Missense_Mutation	SNP	A	TCGA-IM-A3U2-01A-21D-A22D-08	6016813	8146248	50982735	47	9356											
OR2Z1	284383	broad.mit.edu	37	chr19	8842269	8842269	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccccttatctacagtctgagGaatccggaggtgtggatggc	13	10	2	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:8842269G>A	ENST00000324060.2	+	1	954	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	293						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)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACAGTCTGAGGAATCCGGAGG	0.522																																						ENST00000324060.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(877-879)agG>agA		olfactory receptor, family 2, subfamily Z, member 1							123	108	113					19																	8842269		2203	4300	6503	SO:0001819	synonymous_variant	284383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:8842269G>A	AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"GPCR / Class A : Olfactory receptors"	15391	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily Z, member 2"	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.879G>A	19.37:g.8842269G>A							p.R293R	NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN			1	954	+			293					B9EH50|Q6IFK0|Q96R25	Silent	SNP	ENST00000324060.2	37	c.879G>A	CCDS32895.1																																																																																				0.522	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1			5	119	0	0	0	1	0	5	119					A	8842269	G	A	8842269	2	1	458	1	0	0	0	0	0	0	0	1	11036	1165	41	2		2	OR2Z1	19	8842269	Silent	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	696021	8842269	50286714	48	9357											
MUC16	94025	broad.mit.edu	37	chr19	9065420	9065420	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagtggttgatgtgtctaaTgtaaaggtactctctgatgt	13	4	2	2	rs537879149		TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:9065420T>G	ENST00000397910.4	-	3	22229	c.22026A>C	c.(22024-22026)acA>acC	p.T7342T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7344	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGTGTCTAATGTAAAGGTAC	0.458																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(22024-22026)acA>acC		mucin 16, cell surface associated							129	129	129					19																	9065420		1972	4156	6128	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9065420T>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.22026A>C	19.37:g.9065420T>G							p.T7342T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	22229	-			7344			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.22026A>C	CCDS54212.1																																																																																				0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		33	57	0	0	0	1	0	33	57					G	9065420	T	G	9065420	2	3	458	1	0	0	0	0	0	0	0	1	9973	1451	51	5		5	MUC16	19	9065420	Silent	SNP	T	TCGA-IM-A3U2-01A-21D-A22D-08	223151	9065420	50063563	49	9358											
EIF3G	8666	broad.mit.edu	37	chr19	10230518	10230519	+	Frame_Shift_Del	DEL	AA	AA	-													ccgcgatcgccgactcactcAaagtctccagtaggcatcgc							TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:10230518_10230519delAA	ENST00000253108.4	-	1	59_60	c.17_18delTT	c.(16-18)tttfs	p.F6fs	EIF3G_ENST00000587168.1_5'UTR	NM_003755.3	NP_003746.2			eukaryotic translation initiation factor 3, subunit G											central_nervous_system(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			CGACTCACTCAAAGTCTCCAGT	0.649											OREG0025231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(124;1100 1638 3822 4510 4876)	ENST00000253108.4																			0				central_nervous_system(1)|lung(1)	2						c.(16-18)tfs		eukaryotic translation initiation factor 3, subunit G																																				SO:0001589	frameshift_variant	8666					cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity	g.chr19:10230518_10230519delAA	U96074	CCDS12227.1	19p13.2	2013-02-12	2007-07-27	2007-07-27		ENSG00000130811		"RNA binding motif (RRM) containing"	3274	protein-coding gene	gene with protein product		603913	"eukaryotic translation initiation factor 3, subunit 4 delta, 44kDa"	EIF3S4		9822659	Standard	NM_003755		Approved	eIF3-delta, eIF3-p44, eIF3g	uc002mnd.3	O75821		ENST00000253108.4:c.17_18delTT	19.37:g.10230518_10230519delAA	ENSP00000253108:p.Phe6fs		OREG0025231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	663	EIF3G_ENST00000587168.1_5'UTR	p.F6fs	NM_003755.3	NP_003746.2	O75821	EIF3G_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)		1	59_60	-			6						Frame_Shift_Del	DEL	ENST00000253108.4	37	c.17_18delTT	CCDS12227.1																																																																																				0.649	EIF3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451144.1			7	141						7	141	---	---	---	---	-	10230519	AA	-	10230518	7	5	458	1	0	1	0	1	0	0	0	0	5017	127	5	0	988	0	EIF3G	19	10230518	Frame_Shift_Del	DEL	AA	TCGA-IM-A3U2-01A-21D-A22D-08	1165098	10230518	48898465	50	9359											
MRPL4	51073	broad.mit.edu	37	chr19	10369175	10369175	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcactaccgccgctggggGgactccgtactcctcgtgga	14	15	0	0			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:10369175G>A	ENST00000253099.6	+	7	926	c.639G>A	c.(637-639)ggG>ggA	p.G213G	MRPL4_ENST00000393733.2_Silent_p.G213G|CTD-2369P2.4_ENST00000587088.1_RNA|CTD-2369P2.5_ENST00000592893.1_RNA|MRPL4_ENST00000590669.1_Silent_p.G213G|MRPL4_ENST00000307422.5_Silent_p.G213G|MRPL4_ENST00000588502.1_Silent_p.G212G	NM_015956.2|NM_146388.1	NP_057040.2|NP_666500.1	Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4	213					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.G213G(1)		breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		GCCGCTGGGGGGACTCCGTAC	0.647																																						ENST00000393733.2																			1	Substitution - coding silent(1)	p.G213G(1)	large_intestine(1)	breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(637-639)ggG>ggA		mitochondrial ribosomal protein L4							64	70	68					19																	10369175		2203	4300	6503	SO:0001819	synonymous_variant	51073				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr19:10369175G>A	AB049635	CCDS12230.1, CCDS42499.1	19p13.2	2012-11-14			ENSG00000105364	ENSG00000105364		"Mitochondrial ribosomal proteins / large subunits"	14276	protein-coding gene	gene with protein product		611823					Standard	NM_015956		Approved	CGI-28	uc002mnn.3	Q9BYD3	OTTHUMG00000180400	ENST00000253099.6:c.639G>A	19.37:g.10369175G>A						MRPL4_ENST00000307422.5_Silent_p.G213G|MRPL4_ENST00000588502.1_Silent_p.G212G|MRPL4_ENST00000590669.1_Silent_p.G213G|MRPL4_ENST00000253099.6_Silent_p.G213G|CTD-2369P2.5_ENST00000592893.1_RNA	p.G213G			Q9BYD3	RM04_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)	7	666	+		Renal(1328;0.0112)	213					A6NNV7|Q9BW07|Q9H4N2|Q9Y317	Silent	SNP	ENST00000253099.6	37	c.639G>A	CCDS12230.1																																																																																				0.647	MRPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451197.1			3	124	0	0	0	1	0	3	124					A	10369175	G	A	10369175	2	1	458	1	0	0	0	0	0	0	0	1	9803	1219	43	2		2	MRPL4	19	10369175	Silent	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	138657	10369175	48759808	51	9360											
ATP4A	495	broad.mit.edu	37	chr19	36045884	36045884	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccgaggggcaggggcacgctGacggtgatgtagatgaggta	19	7	0	4			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:36045884G>A	ENST00000262623.3	-	16	2449	c.2421C>T	c.(2419-2421)gtC>gtT	p.V807V		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	807					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GGGGCACGCTGACGGTGATGT	0.547																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(2419-2421)gtC>gtT		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						259	194	216					19																	36045884		2203	4300	6503	SO:0001819	synonymous_variant	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36045884G>A		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.2421C>T	19.37:g.36045884G>A							p.V807V	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		16	2449	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		807					O00738	Silent	SNP	ENST00000262623.3	37	c.2421C>T	CCDS12467.1																																																																																				0.547	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		47	59	0	0	0	1	0	47	59					A	36045884	G	A	36045884	2	1	458	1	0	0	0	0	0	0	0	1	1145	1277	45	2		2	ATP4A	19	36045884	Silent	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	25676709	36045884	23083099	52	9361											
SLC1A5	6510	broad.mit.edu	37	chr19	47281988	47281988	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgatgccccacaggaagcgGtaggggtttttgcgggtgaa	16	8	0	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:47281988G>A	ENST00000542575.2	-	5	1630	c.1002C>T	c.(1000-1002)taC>taT	p.Y334Y	SLC1A5_ENST00000434726.2_Silent_p.Y132Y|SLC1A5_ENST00000594991.1_Silent_p.Y158Y|SLC1A5_ENST00000412532.2_Silent_p.Y106Y	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	334					amino acid transport (GO:0006865)|extracellular amino acid transport (GO:0006860)|glutamine transport (GO:0006868)|ion transport (GO:0006811)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-glutamine transmembrane transporter activity (GO:0015186)|L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)|receptor activity (GO:0004872)|sodium:dicarboxylate symporter activity (GO:0017153)|virus receptor activity (GO:0001618)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	ACAGGAAGCGGTAGGGGTTTT	0.597																																						ENST00000542575.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13						c.(1000-1002)taC>taT		solute carrier family 1 (neutral amino acid transporter), member 5	L-Asparagine(DB00174)|L-Glutamine(DB00130)						95	88	90					19																	47281988		2203	4300	6503	SO:0001819	synonymous_variant	6510				cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity	g.chr19:47281988G>A	U53347	CCDS12692.1, CCDS46125.1, CCDS46126.1	19q13.32	2013-07-15			ENSG00000105281	ENSG00000105281		"Solute carriers"	10943	protein-coding gene	gene with protein product		109190		RDRC, M7V1		8702519, 10051606	Standard	NM_005628		Approved	AAAT, ASCT2	uc002pfs.3	Q15758	OTTHUMG00000183434	ENST00000542575.2:c.1002C>T	19.37:g.47281988G>A						SLC1A5_ENST00000434726.2_Silent_p.Y132Y|SLC1A5_ENST00000412532.2_Silent_p.Y106Y|SLC1A5_ENST00000594991.1_Silent_p.Y158Y	p.Y334Y	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	5	1630	-		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)	334					A8K9H5|B4DR77|B4DWS4|B7ZB81|D0EYG6|E9PC01|O95720|Q96RL9|Q9BWQ3|Q9UNP2	Silent	SNP	ENST00000542575.2	37	c.1002C>T	CCDS12692.1																																																																																				0.597	SLC1A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466630.1			3	63	0	0	0	1	0	3	63					A	47281988	G	A	47281988	2	1	458	1	0	0	0	0	0	0	0	1	14435	1256	44	2		2	SLC1A5	19	47281988	Silent	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	11236104	47281988	11846995	53	9362											
CPT1C	126129	broad.mit.edu	37	chr19	50215184	50215184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcgctgtacatcgtgtcccGattcctccacctgcagtcgc	9	16	0	0	rs548745420		TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:50215184G>A	ENST00000392518.4	+	17	2357	c.1985G>A	c.(1984-1986)cGa>cAa	p.R662Q	CPT1C_ENST00000405931.2_Missense_Mutation_p.R651Q|CPT1C_ENST00000354199.5_Intron|CPT1C_ENST00000598293.1_Missense_Mutation_p.R662Q|CPT1C_ENST00000323446.5_Missense_Mutation_p.R662Q	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	662					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		ATCGTGTCCCGATTCCTCCAC	0.607													g|||	1	0.000199681	8e-04	0	5008	,	,		19746	0		0	False		,,,				2504	0					ENST00000392518.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1984-1986)cGa>cAa		carnitine palmitoyltransferase 1C							108	85	93					19																	50215184		2203	4300	6503	SO:0001583	missense	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50215184G>A	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.1985G>A	19.37:g.50215184G>A	ENSP00000376303:p.Arg662Gln					CPT1C_ENST00000354199.5_Intron|CPT1C_ENST00000405931.2_Missense_Mutation_p.R651Q|CPT1C_ENST00000323446.5_Missense_Mutation_p.R662Q|CPT1C_ENST00000598293.1_Missense_Mutation_p.R662Q	p.R662Q	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	17	2357	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	662					A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	37	c.1985G>A	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.366734	0.41902	.	.	ENSG00000169169	ENST00000392518;ENST00000405931;ENST00000323446	D;D;D	0.88818	-2.43;-2.43;-2.43	4.46	-0.156	0.13391	.	0.184288	0.26207	N	0.025720	T	0.77039	0.4072	N	0.24115	0.695	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.002;0.004	T	0.61598	-0.7030	10	0.23891	T	0.37	-8.7398	8.1707	0.31254	0.7473:0.0:0.2527:0.0	.	651;662	Q8TCG5-2;Q8TCG5	.;CPT1C_HUMAN	Q	662;651;662	ENSP00000376303:R662Q;ENSP00000384465:R651Q;ENSP00000319343:R662Q	ENSP00000319343:R662Q	R	+	2	0	CPT1C	54906996	0.796000	0.28864	0.135000	0.22099	0.798000	0.45092	1.626000	0.37039	0.157000	0.19338	-0.125000	0.14975	CGA		0.607	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		24	104	0	0	0	1	0	24	104					A	50215184	G	A	50215184	3	1	458	1	0	0	0	0	1	0	0	0	3833	1058	37	1	2043	1	CPT1C	19	50215184	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	2933196	50215184	8913799	54	9363											
ZNF160	90338	broad.mit.edu	37	chr19	53572532	53572532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaaggtttttctccagtgtGgattgtctgatggattgcta	12	5	2	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:53572532G>A	ENST00000429604.1	-	7	1670	c.1255C>T	c.(1255-1257)Cac>Tac	p.H419Y	ZNF160_ENST00000418871.1_Missense_Mutation_p.H419Y|ZNF160_ENST00000599056.1_Missense_Mutation_p.H419Y|ZNF160_ENST00000601421.1_Missense_Mutation_p.H383Y	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	419					hemopoiesis (GO:0030097)|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)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TCTCCAGTGTGGATTGTCTGA	0.428																																						ENST00000601421.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(1147-1149)Cac>Tac		zinc finger protein 160							134	135	135					19																	53572532		2203	4300	6503	SO:0001583	missense	90338				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53572532G>A	X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"Zinc fingers, C2H2-type", "-"	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.1255C>T	19.37:g.53572532G>A	ENSP00000406201:p.His419Tyr					ZNF160_ENST00000599056.1_Missense_Mutation_p.H419Y|ZNF160_ENST00000429604.1_Missense_Mutation_p.H419Y|ZNF160_ENST00000418871.1_Missense_Mutation_p.H419Y	p.H383Y			Q9HCG1	ZN160_HUMAN		GBM - Glioblastoma multiforme(134;0.02)	3	2023	-			419					Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Missense_Mutation	SNP	ENST00000429604.1	37	c.1147C>T	CCDS12859.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623158	0.46840	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	T;T	0.67523	-0.27;-0.27	2.47	2.47	0.30058	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83496	0.5267	M	0.91920	3.255	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	D	0.86693	0.1924	9	0.87932	D	0	.	12.0276	0.53380	0.0:0.0:1.0:0.0	.	419	Q9HCG1	ZN160_HUMAN	Y	419	ENSP00000406201:H419Y;ENSP00000409597:H419Y	ENSP00000409597:H419Y	H	-	1	0	ZNF160	58264344	0.795000	0.28851	0.300000	0.25030	0.596000	0.36781	3.801000	0.55545	1.361000	0.45981	0.561000	0.74099	CAC		0.428	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288		5	196	0	0	0	1	0	5	196					A	53572532	G	A	53572532	3	1	458	1	0	0	0	0	1	0	0	0	17736	1348	47	2	1205	2	ZNF160	19	53572532	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	3357348	53572532	5556451	55	9364											
SIGLEC1	6614	broad.mit.edu	37	chr20	3675022	3675022	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctgggagagctgccttcGggtccccccacaccttgtag	12	15	0	1	rs551720638		TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr20:3675022G>A	ENST00000344754.4	-	12	3101	c.3102C>T	c.(3100-3102)ccC>ccT	p.P1034P	SIGLEC1_ENST00000202578.4_Silent_p.P1034P	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1034	Ig-like C2-type 10.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AGCTGCCTTCGGGTCCCCCCA	0.652													G|||	1	0.000199681	0	0	5008	,	,		17030	0		0	False		,,,				2504	0.001					ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(3100-3102)ccC>ccT		sialic acid binding Ig-like lectin 1, sialoadhesin							55	57	57					20																	3675022		2203	4300	6503	SO:0001819	synonymous_variant	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3675022G>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3102C>T	20.37:g.3675022G>A						SIGLEC1_ENST00000202578.4_Silent_p.P1034P	p.P1034P	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			12	3101	-			1034			Ig-like C2-type 10.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Silent	SNP	ENST00000344754.4	37	c.3102C>T	CCDS13060.1																																																																																				0.652	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		39	92	0	0	0	1	0	39	92					A	3675022	G	A	3675022	2	1	458	1	0	0	0	0	0	0	0	1	14305	1103	39	1		1	SIGLEC1	20	3675022	Silent	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08		3675022	59350498	56	9365											
MYH7B	57644	broad.mit.edu	37	chr20	33582119	33582119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgcgaggggcgctggctgCggccgaggccaagcgccagg	20	12	0	0	rs369138767		TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr20:33582119C>T	ENST00000262873.7	+	25	2833	c.2741C>T	c.(2740-2742)gCg>gTg	p.A914V		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	872						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)			GCGCTGGCTGCGGCCGAGGCC	0.672																																						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.(2740-2742)gCg>gTg		myosin, heavy chain 7B, cardiac muscle, beta		C	VAL/ALA	0,4014		0,0,2007	29	38	35		2741	3.3	0.0	20		35	2,8314		0,2,4156	no	missense	MYH7B	NM_020884.3	64	0,2,6163	TT,TC,CC		0.0241,0.0,0.0162	benign	914/1984	33582119	2,12328	2007	4158	6165	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33582119C>T	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.2741C>T	20.37:g.33582119C>T	ENSP00000262873:p.Ala914Val						p.A914V	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		25	2833	+			872					Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.2741C>T	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.150006	0.57151	0.0	2.41E-4	ENSG00000078814	ENST00000262873	D	0.83163	-1.69	4.32	3.3	0.37823	.	0.425278	0.17358	N	0.177128	T	0.73521	0.3597	L	0.38175	1.15	0.22412	N	0.999123	B	0.23806	0.091	B	0.04013	0.001	T	0.67256	-0.5716	10	0.72032	D	0.01	.	10.038	0.42139	0.4003:0.5997:0.0:0.0	.	872	A7E2Y1	MYH7B_HUMAN	V	914	ENSP00000262873:A914V	ENSP00000262873:A914V	A	+	2	0	MYH7B	33045780	0.867000	0.29959	0.006000	0.13384	0.854000	0.48673	4.412000	0.59787	2.409000	0.81822	0.655000	0.94253	GCG		0.672	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		3	66	0	0	0	1	0	3	66					T	33582119	C	T	33582119	3	4	458	1	0	0	0	0	1	0	0	0	10040	768	27	1	2839	1	MYH7B	20	33582119	Missense_Mutation	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08	29907097	33582119	29443401	57	9366											
DNTTIP1	116092	broad.mit.edu	37	chr20	44432018	44432018	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgccgggaaggccccaagGtatgattatgtgagcatggc	14	9	0	2			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr20:44432018G>A	ENST00000372622.3	+	8	671		c.e8+1			NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1							nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				AGGCCCCAAGGTATGATTATG	0.507																																						ENST00000372622.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						c.e8+1		deoxynucleotidyltransferase, terminal, interacting protein 1							77	65	69					20																	44432018		2203	4300	6503	SO:0001630	splice_region_variant	116092					nucleus		g.chr20:44432018G>A	AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)", "TdT binding protein"	611388	"chromosome 20 open reading frame 167"	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.603+1G>A	20.37:g.44432018G>A								NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN			8	671	+		Myeloproliferative disorder(115;0.0122)						B2RA18|Q96DE3|Q9BQP2|Q9H148	Splice_Site	SNP	ENST00000372622.3	37		CCDS13369.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.085705	0.55861	.	.	ENSG00000101457	ENST00000372622;ENST00000456939;ENST00000435014	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.633	0.88114	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNTTIP1	43865425	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	6.376000	0.73141	2.750000	0.94351	0.467000	0.42956	.		0.507	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079502.1	NM_052951	Intron	15	47	0	0	0	1	0	15	47					A	44432018	G	A	44432018	5	1	458	1	0	0	0	0	0	0	1	0	4681	1275	44	2	634	2	DNTTIP1	20	44432018	Splice_Site	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	10849899	44432018	18593502	58	9367											
GNAS	2778	broad.mit.edu	37	chr20	57428474	57428474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagccgaagagatggagaccGaaccgcctcacaacgagccc	11	15	1	2	rs527488103		TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr20:57428474G>A	ENST00000371100.4	+	1	706	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371099.2_Missense_Mutation_p.E52K|GNAS_ENST00000313949.7_Intron|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371102.4_Missense_Mutation_p.E52K|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000306120.3_5'Flank	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)			GATGGAGACCGAACCGCCTCA	0.652			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			G|||	1	0.000199681	8e-04	0	5008	,	,		12823	0		0	False		,,,				2504	0				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.(154-156)Gaa>Aaa		GNAS complex locus							17	20	19					20																	57428474		1878	4111	5989	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.chr20:57428474G>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.154G>A	20.37:g.57428474G>A	ENSP00000360141:p.Glu52Lys	TSP Lung(22;0.16)				GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.E52K|GNAS_ENST00000371099.2_Missense_Mutation_p.E52K|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000603534.1_Intron	p.E52K	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	706	+	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.154G>A	CCDS46622.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.573898	0.45902	.	.	ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102	D;D	0.90133	-2.62;-2.61	4.56	-9.12	0.00707	.	.	.	.	.	D	0.83225	0.5208	L	0.51422	1.61	0.45035	D	0.998054	P	0.34587	0.458	B	0.20184	0.028	T	0.63571	-0.6607	9	0.29301	T	0.29	.	17.8853	0.88852	0.0704:0.7712:0.1584:0.0	.	52	Q5JWF2	GNAS1_HUMAN	K	52	ENSP00000360141:E52K;ENSP00000360143:E52K	ENSP00000360140:E52K	E	+	1	0	GNAS	56861869	0.321000	0.24625	0.085000	0.20634	0.950000	0.60333	-0.906000	0.04071	-1.973000	0.00999	-0.300000	0.09419	GAA		0.652	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3	NM_000516		2	6	0	0	0	1	0	2	6					A	57428474	G	A	57428474	3	1	458	1	0	0	0	0	1	0	0	0	6510	1059	37	1	898	1	GNAS	20	57428474	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	12996456	57428474	5597046	59	9368											
COL20A1	57642	broad.mit.edu	37	chr20	61947922	61947922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggtttgacctgatggtgGccttcagcctggtggaaaag	15	8	1	2			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr20:61947922G>A	ENST00000358894.6	+	21	2642	c.2542G>A	c.(2542-2544)Gcc>Acc	p.A848T	COL20A1_ENST00000326996.6_Missense_Mutation_p.A848T|COL20A1_ENST00000422202.1_Missense_Mutation_p.A855T|COL20A1_ENST00000435874.1_Missense_Mutation_p.A855T	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	848	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCTGATGGTGGCCTTCAGCCT	0.652																																						ENST00000422202.1																			0				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36						c.(2563-2565)Gcc>Acc		collagen, type XX, alpha 1							28	31	30					20																	61947922		2020	4163	6183	SO:0001583	missense	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61947922G>A	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"Collagens", "Fibronectin type III domain containing"	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.2542G>A	20.37:g.61947922G>A	ENSP00000351767:p.Ala848Thr					COL20A1_ENST00000326996.6_Missense_Mutation_p.A848T|COL20A1_ENST00000435874.1_Missense_Mutation_p.A855T|COL20A1_ENST00000358894.6_Missense_Mutation_p.A848T	p.A855T			Q9P218	COKA1_HUMAN			20	2631	+	all_cancers(38;1.39e-10)		848			TSP N-terminal.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	c.2563G>A	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	G	9.487	1.099723	0.20552	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202	T;T;T;T	0.02280	4.36;4.36;4.36;4.36	4.04	2.07	0.26955	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.064438	0.64402	D	0.000008	T	0.03564	0.0102	M	0.77103	2.36	0.31770	N	0.632265	B;B	0.19073	0.033;0.021	B;B	0.21360	0.034;0.024	T	0.14615	-1.0466	10	0.19147	T	0.46	.	7.9111	0.29791	0.2022:0.0:0.7978:0.0	.	855;848	Q9P218-2;Q9P218	.;COKA1_HUMAN	T	848;848;855;855	ENSP00000351767:A848T;ENSP00000323077:A848T;ENSP00000408690:A855T;ENSP00000414753:A855T	ENSP00000323077:A848T	A	+	1	0	COL20A1	61418367	0.863000	0.29885	0.504000	0.27639	0.197000	0.23852	2.947000	0.49058	0.318000	0.23185	-0.498000	0.04607	GCC		0.652	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		7	10	0	0	0	1	0	7	10					A	61947922	G	A	61947922	3	1	458	1	0	0	0	0	1	0	0	0	3679	1203	42	2	2620	2	COL20A1	20	61947922	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	4519448	61947922	1077598	60	9369											
CCT8	10694	broad.mit.edu	37	chr21	30440001	30440001	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatatgagaagccattacaAtcatttttgcagcaggatgc	9	8	1	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr21:30440001A>G	ENST00000286788.4	-	4	463	c.257T>C	c.(256-258)aTt>aCt	p.I86T	CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000542732.1_Missense_Mutation_p.I67T|CCT8_ENST00000540844.1_Missense_Mutation_p.I13T	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	86					'de novo' posttranslational protein folding (GO:0051084)|ATP catabolic process (GO:0006200)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	aggresome (GO:0016235)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						AGCCATTACAATCATTTTTGC	0.368																																						ENST00000286788.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						c.(256-258)aTt>aCt		chaperonin containing TCP1, subunit 8 (theta)							85	81	83					21																	30440001		2203	4300	6503	SO:0001583	missense	10694				'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding	g.chr21:30440001A>G	Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"Heat Shock Proteins / Chaperonins"	1623	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 112"	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595	ENST00000286788.4:c.257T>C	21.37:g.30440001A>G	ENSP00000286788:p.Ile86Thr					CCT8_ENST00000542732.1_Missense_Mutation_p.I67T|CCT8_ENST00000540844.1_Missense_Mutation_p.I13T|CCT8_ENST00000470450.1_5'UTR	p.I86T	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN			4	463	-			86					A6NN54|B4DEM7|B4DQH4|Q4VBP8	Missense_Mutation	SNP	ENST00000286788.4	37	c.257T>C	CCDS33528.1	.	.	.	.	.	.	.	.	.	.	A	18.84	3.708472	0.68615	.	.	ENSG00000156261	ENST00000389159;ENST00000286788;ENST00000542732;ENST00000540844	T;T;T	0.14516	2.5;2.5;2.5	5.54	5.54	0.83059	.	0.351109	0.31145	N	0.008180	T	0.26484	0.0647	M	0.77820	2.39	0.53005	D	0.999965	P;B;P;B;B	0.40398	0.716;0.447;0.498;0.442;0.34	B;B;B;B;B	0.43867	0.355;0.434;0.355;0.241;0.113	T	0.03103	-1.1072	10	0.87932	D	0	-15.9753	15.9755	0.80060	1.0:0.0:0.0:0.0	.	13;67;86;86;86	B4DQH4;B4DEM7;Q53HU0;G5E9B2;P50990	.;.;.;.;TCPQ_HUMAN	T	86;86;67;13	ENSP00000286788:I86T;ENSP00000444984:I67T;ENSP00000442730:I13T	ENSP00000286788:I86T	I	-	2	0	CCT8	29361872	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	8.953000	0.93041	2.219000	0.72066	0.528000	0.53228	ATT		0.368	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171822.1			5	102	0	0	0	1	0	5	102					G	30440001	A	G	30440001	3	3	458	1	0	0	0	0	1	0	0	0	2960	101	4	3	1437	3	CCT8	21	30440001	Missense_Mutation	SNP	A	TCGA-IM-A3U2-01A-21D-A22D-08		30440001	17689894	61	9370											
KRTAP20-2	337976	broad.mit.edu	37	chr21	32007755	32007755	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccgcccatcttgctatggaaGatactggtcctgtggcttct	10	12	2	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr21:32007755G>T	ENST00000330798.2	+	1	201	c.173G>T	c.(172-174)aGa>aTa	p.R58I		NM_181616.1	NP_853647.1	Q3LI61	KR202_HUMAN	keratin associated protein 20-2	58						intermediate filament (GO:0005882)		p.R58T(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						TGCTATGGAAGATACTGGTCC	0.507																																						ENST00000330798.2																			1	Substitution - Missense(1)	p.R58T(1)	lung(1)	central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						c.(172-174)aGa>aTa		keratin associated protein 20-2							162	140	148					21																	32007755		2203	4300	6503	SO:0001583	missense	337976					intermediate filament		g.chr21:32007755G>T	AP001708	CCDS13604.1	21q22.1	2006-03-13			ENSG00000184032	ENSG00000184032		"Keratin associated proteins"	18944	protein-coding gene	gene with protein product						12359730	Standard	NM_181616		Approved	KAP20.2	uc011adg.2	Q3LI61	OTTHUMG00000057786	ENST00000330798.2:c.173G>T	21.37:g.32007755G>T	ENSP00000330746:p.Arg58Ile						p.R58I	NM_181616.1	NP_853647.1	Q3LI61	KR202_HUMAN			1	201	+			58						Missense_Mutation	SNP	ENST00000330798.2	37	c.173G>T	CCDS13604.1	.	.	.	.	.	.	.	.	.	.	G	9.225	1.034310	0.19590	.	.	ENSG00000184032	ENST00000330798	T	0.11169	2.8	4.62	3.73	0.42828	.	0.000000	0.43919	U	0.000520	T	0.23410	0.0566	.	.	.	0.09310	N	0.999999	D	0.53462	0.96	P	0.57776	0.827	T	0.02226	-1.1192	9	0.87932	D	0	.	10.908	0.47092	0.0:0.1897:0.8103:0.0	.	58	Q3LI61	KR202_HUMAN	I	58	ENSP00000330746:R58I	ENSP00000330746:R58I	R	+	2	0	KRTAP20-2	30929626	0.004000	0.15560	0.008000	0.14137	0.003000	0.03518	0.926000	0.28804	1.295000	0.44724	0.650000	0.86243	AGA		0.507	KRTAP20-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128238.3			8	192	1	0	0.0381472	1	0.0393647	8	192					T	32007755	G	T	32007755	3	4	458	1	0	0	0	0	1	0	0	0	8537	942	33	4	175	4	KRTAP20-2	21	32007755	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	1567754	32007755	16122140	62	9371											
DEPDC5	9681	broad.mit.edu	37	chr22	32215193	32215193	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtccaacagaaggcgctggAtgcacacttttcctgtgggt	12	11	0	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr22:32215193A>G	ENST00000382112.3	+	21	1922	c.1852A>G	c.(1852-1854)Atg>Gtg	p.M618V	DEPDC5_ENST00000382111.2_Missense_Mutation_p.M618V|DEPDC5_ENST00000266091.3_Missense_Mutation_p.M618V|DEPDC5_ENST00000400246.1_Missense_Mutation_p.M618V|DEPDC5_ENST00000400248.2_Missense_Mutation_p.M618V|DEPDC5_ENST00000382105.2_Missense_Mutation_p.M618V|DEPDC5_ENST00000400249.2_Missense_Mutation_p.M618V|DEPDC5_ENST00000536766.1_Missense_Mutation_p.M590V|DEPDC5_ENST00000535622.1_Missense_Mutation_p.M618V	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	618					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AAGGCGCTGGATGCACACTTT	0.557																																						ENST00000400246.1																			0				breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(1852-1854)Atg>Gtg		DEP domain containing 5							105	103	104					22																	32215193		2003	4177	6180	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32215193A>G	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.1852A>G	22.37:g.32215193A>G	ENSP00000371546:p.Met618Val					DEPDC5_ENST00000266091.3_Missense_Mutation_p.M618V|DEPDC5_ENST00000536766.1_Missense_Mutation_p.M590V|DEPDC5_ENST00000400248.1_Missense_Mutation_p.M618V|DEPDC5_ENST00000400249.2_Missense_Mutation_p.M618V|DEPDC5_ENST00000382105.2_Missense_Mutation_p.M618V|DEPDC5_ENST00000382111.2_Missense_Mutation_p.M618V|DEPDC5_ENST00000382112.3_Missense_Mutation_p.M618V|DEPDC5_ENST00000535622.1_Missense_Mutation_p.M618V	p.M618V			O75140	DEPD5_HUMAN			22	1994	+			618					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.1852A>G	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.949|7.949	0.744424|0.744424	0.15710|0.15710	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000433147|ENST00000535622;ENST00000536766;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	.|T;T;T;T;T;T;T;T;T	.|0.28895	.|1.61;1.61;2.0;2.07;1.99;1.59;2.07;1.99;2.07	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.41373|0.41373	0.1156|0.1156	L|L	0.35414|0.35414	1.06|1.06	0.80722|0.80722	D|D	1|1	.|B;P;P;B;B;B	.|0.48911	.|0.091;0.917;0.865;0.119;0.041;0.073	.|B;D;P;B;B;B	.|0.63488	.|0.011;0.915;0.824;0.019;0.011;0.008	T|T	0.10042|0.10042	-1.0647|-1.0647	5|10	.|0.16420	.|T	.|0.52	.|.	15.3408|15.3408	0.74296|0.74296	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|618;590;618;618;618;618	.|B9EGN9;F5GYZ8;B4DH93;O75140-4;A8MPX9;O75140	.|.;.;.;.;.;DEPD5_HUMAN	G|V	15|618;590;618;618;618;618;618;618;618;618	.|ENSP00000440210:M618V;ENSP00000441358:M590V;ENSP00000266091:M618V;ENSP00000383108:M618V;ENSP00000383105:M618V;ENSP00000371539:M618V;ENSP00000371546:M618V;ENSP00000371545:M618V;ENSP00000383107:M618V	.|ENSP00000266091:M618V	D|M	+|+	2|1	0|0	DEPDC5|DEPDC5	30545193|30545193	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.198000|6.198000	0.72106|0.72106	2.216000|2.216000	0.71823|0.71823	0.533000|0.533000	0.62120|0.62120	GAT|ATG		0.557	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		26	100	0	0	0	1	0	26	100					G	32215193	A	G	32215193	3	3	458	1	0	0	0	0	1	0	0	0	4442	333	12	3	1952	3	DEPDC5	22	32215193	Missense_Mutation	SNP	A	TCGA-IM-A3U2-01A-21D-A22D-08		32215193	19089373	63	9372											
CRELD2	79174	broad.mit.edu	37	chr22	50315381	50315381	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacggctacttcagctcgctCcggaacgagacccacagcat	10	15	1	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr22:50315381C>T	ENST00000328268.4	+	5	638	c.564C>T	c.(562-564)ctC>ctT	p.L188L	CRELD2_ENST00000444954.1_3'UTR|CRELD2_ENST00000404488.3_Silent_p.L188L|CRELD2_ENST00000403427.3_Silent_p.L188L|CRELD2_ENST00000407217.3_Silent_p.L188L	NM_024324.3	NP_077300.3	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	188						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		TCAGCTCGCTCCGGAACGAGA	0.677																																						ENST00000404488.3																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9						c.(562-564)ctC>ctT		cysteine-rich with EGF-like domains 2							82	83	82					22																	50315381		2203	4300	6503	SO:0001819	synonymous_variant	79174					endoplasmic reticulum|extracellular region	calcium ion binding	g.chr22:50315381C>T	BC050675	CCDS14082.1, CCDS46730.1, CCDS63515.1, CCDS63516.1	22q13.33	2005-12-08			ENSG00000184164	ENSG00000184164			28150	protein-coding gene	gene with protein product		607171				12137942	Standard	XM_005261737		Approved	MGC11256	uc010hal.2	Q6UXH1	OTTHUMG00000150292	ENST00000328268.4:c.564C>T	22.37:g.50315381C>T						CRELD2_ENST00000328268.4_Silent_p.L188L|CRELD2_ENST00000444954.1_3'UTR|CRELD2_ENST00000403427.3_Silent_p.L188L|CRELD2_ENST00000407217.3_Silent_p.L188L	p.L188L	NM_001135101.1	NP_001128573.1	Q6UXH1	CREL2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)	5	699	+		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)	188					A5GZA2|A5GZA3|A5GZA4|A5GZA5|A5GZA6|Q4W0V0|Q86UC0|Q9BU47	Silent	SNP	ENST00000328268.4	37	c.564C>T	CCDS14082.1																																																																																				0.677	CRELD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317409.1	NM_024324		6	177	0	0	0	1	0	6	177					T	50315381	C	T	50315381	2	4	458	1	0	0	0	0	0	0	0	1	3867	842	30	2		2	CRELD2	22	50315381	Silent	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08	18100188	50315381	989185	64	9373											
MAGEB10	139422	broad.mit.edu	37	chrX	27839566	27839566	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcctctgcttgtttgaaggAtgttttccagagttcacttg	10	8	2	2			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chrX:27839566A>G	ENST00000356790.2	+	3	388	c.143A>G	c.(142-144)gAt>gGt	p.D48G		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	48										NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						TGTTTGAAGGATGTTTTCCAG	0.522																																						ENST00000356790.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(142-144)gAt>gGt		melanoma antigen family B, 10							58	50	53					X																	27839566		2202	4300	6502	SO:0001583	missense	139422							g.chrX:27839566A>G		CCDS35221.1	Xp21.3	2008-02-05			ENSG00000177689	ENSG00000177689			25377	protein-coding gene	gene with protein product		300761				11454705	Standard	NM_182506		Approved	FLJ32965	uc004dbw.3	Q96LZ2	OTTHUMG00000046084	ENST00000356790.2:c.143A>G	X.37:g.27839566A>G	ENSP00000368304:p.Asp48Gly						p.D48G	NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN			3	388	+			48					Q494Y6|Q494Y7|Q9BZ78	Missense_Mutation	SNP	ENST00000356790.2	37	c.143A>G	CCDS35221.1	.	.	.	.	.	.	.	.	.	.	A	2.692	-0.272835	0.05716	.	.	ENSG00000177689	ENST00000356790	T	0.04083	3.71	2.37	-4.74	0.03249	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.03053	0.0090	L	0.39898	1.24	0.09310	N	1	B	0.16802	0.019	B	0.22880	0.042	T	0.49194	-0.8965	9	0.11485	T	0.65	.	1.2836	0.02046	0.2117:0.1623:0.4629:0.1631	.	48	Q96LZ2	MAGBA_HUMAN	G	48	ENSP00000368304:D48G	ENSP00000368304:D48G	D	+	2	0	MAGEB10	27749487	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-3.238000	0.00545	-1.662000	0.01482	0.345000	0.21793	GAT		0.522	MAGEB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106216.1	NM_182506		13	30	0	0	0	1	0	13	30					G	27839566	A	G	27839566	3	3	458	1	0	0	0	0	1	0	0	0	9173	333	12	3	145	3	MAGEB10	23	27839566	Missense_Mutation	SNP	A	TCGA-IM-A3U2-01A-21D-A22D-08		27839566	127430994	65	9374											
SRPX	8406	broad.mit.edu	37	chrX	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-													gctgcggctgggcgggacgcGcagcagcagcagcagcagca					rs35523939|rs72249350|rs139109693		TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)ctgcgc>cgc	p.L23del	SRPX_ENST00000544439.1_In_Frame_Del_p.L23del|SRPX_ENST00000343800.6_Intron|RP13-43E11.1_ENST00000423919.1_RNA|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000432886.2_In_Frame_Del_p.L23del|SRPX_ENST00000538295.1_In_Frame_Del_p.L23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:8634709, ECO:0000269|PubMed:9162095}.		autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		636	0.168477	0.1657	0.1398	3775	,	,		8591	0.0129		0.2028	False		,,,				2504	0.1053					ENST00000378533.3																			2	Deletion - In frame(2)	p.L23delL(2)	prostate(2)	autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						c.(67-72)cgc>c		sushi-repeat containing protein, X-linked																																				SO:0001651	inframe_deletion	8406				cell adhesion	cell surface|membrane		g.chrX:38079976_38079978delGCA	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"sushi-repeat-containing protein, X chromosome", "sushi-repeat-containing protein, X-linked"			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.68_70delTGC	X.37:g.38079985_38079987delGCA	ENSP00000367794:p.Leu23del		OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000432886.2_In_Frame_Del_p.LR23del|SRPX_ENST00000544439.1_In_Frame_Del_p.LR23del|SRPX_ENST00000538295.1_In_Frame_Del_p.LR23del|SRPX_ENST00000343800.6_Intron	p.LR23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN			1	174_176	-			23		Missing.			A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	In_Frame_Del	DEL	ENST00000378533.3	37	c.68_70delTGC	CCDS14245.1																																																																																				0.729	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307		8	11						8	11	---	---	---	---	-	38079978	GCA	-	38079976	7	5	458	1	0	1	0	1	0	0	0	0	15163	1087	38	0	1364	0	SRPX	23	38079976	In_Frame_Del	DEL	GCA	TCGA-IM-A3U2-01A-21D-A22D-08	10240410	38079976	117190584	66	9375											
FOXR2	139628	broad.mit.edu	37	chrX	55650393	55650393	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatctgtggatgtgggtggaCcccaatatcctgtgccccct	11	12	1	0			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chrX:55650393C>T	ENST00000339140.3	+	1	561	c.249C>T	c.(247-249)gaC>gaT	p.D83D		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	83					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						TGTGGGTGGACCCCAATATCC	0.552																																						ENST00000339140.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(247-249)gaC>gaT		forkhead box R2							68	61	64					X																	55650393		2203	4300	6503	SO:0001819	synonymous_variant	139628				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue 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 activator activity|transcription factor binding	g.chrX:55650393C>T	BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"Forkhead boxes"	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.249C>T	X.37:g.55650393C>T							p.D83D	NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN			1	561	+			83						Silent	SNP	ENST00000339140.3	37	c.249C>T	CCDS35308.1																																																																																				0.552	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451		32	50	0	0	0	1	0	32	50					T	55650393	C	T	55650393	2	4	458	1	0	0	0	0	0	0	0	1	6032	506	18	2		2	FOXR2	23	55650393	Silent	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08	17570417	55650393	99620167	67	9376											
DGAT2L6	347516	broad.mit.edu	37	chrX	69424816	69424816	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcatagttggggaaccccttCcaattcccaggattaagagg	10	10	1	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chrX:69424816C>A	ENST00000333026.3	+	7	974	c.874C>A	c.(874-876)Cca>Aca	p.P292T		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	292					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						GGAACCCCTTCCAATTCCCAG	0.463																																						ENST00000333026.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						c.(874-876)Cca>Aca		diacylglycerol O-acyltransferase 2-like 6							72	62	65					X																	69424816		2203	4300	6503	SO:0001583	missense	347516				lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chrX:69424816C>A	AK129500	CCDS14397.1	Xq13.1	2008-02-05			ENSG00000184210	ENSG00000184210			23250	protein-coding gene	gene with protein product		300926				15671038	Standard	NM_198512		Approved	DC3, FLJ25989	uc004dxx.1	Q6ZPD8	OTTHUMG00000021774	ENST00000333026.3:c.874C>A	X.37:g.69424816C>A	ENSP00000328036:p.Pro292Thr						p.P292T	NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN			7	974	+			292					Q6IEE2	Missense_Mutation	SNP	ENST00000333026.3	37	c.874C>A	CCDS14397.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.963458	0.34659	.	.	ENSG00000184210	ENST00000333026	D	0.93076	-3.16	4.74	4.74	0.60224	.	0.209758	0.33712	N	0.004629	D	0.93400	0.7895	L	0.45051	1.395	0.36801	D	0.885337	D	0.63880	0.993	D	0.66716	0.946	D	0.92002	0.5611	10	0.22109	T	0.4	-16.5379	9.3478	0.38120	0.2129:0.7871:0.0:0.0	.	292	Q6ZPD8	DG2L6_HUMAN	T	292	ENSP00000328036:P292T	ENSP00000328036:P292T	P	+	1	0	DGAT2L6	69341541	1.000000	0.71417	0.995000	0.50966	0.727000	0.41649	4.436000	0.59948	2.202000	0.70862	0.600000	0.82982	CCA		0.463	DGAT2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057067.1	NM_198512		7	21	1	0	8.12818e-05	1	8.66411e-05	7	21					A	69424816	C	A	69424816	3	1	458	1	0	0	0	0	1	0	0	0	4459	855	30	4	900	4	DGAT2L6	23	69424816	Missense_Mutation	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08	13774423	69424816	85845744	68	9377											
ZCCHC16	340595	broad.mit.edu	37	chrX	111698774	111698774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccccagccaaacgagcccGccagcaagaaactcagttgt	8	16	1	1	rs368859857		TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chrX:111698774G>A	ENST00000340433.2	+	1	1048	c.818G>A	c.(817-819)cGc>cAc	p.R273H		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	273							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						AAACGAGCCCGCCAGCAAGAA	0.552																																						ENST00000340433.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(817-819)cGc>cAc		zinc finger, CCHC domain containing 16		G	HIS/ARG	0,3835		0,0,0,1632,571	66	68	67		818	-2.8	0.2	X		67	2,6726		0,1,1,2427,1871	no	missense	ZCCHC16	NM_001004308.2	29	0,1,1,4059,2442	AA,AG,A,GG,G		0.0297,0.0,0.0189	possibly-damaging	273/311	111698774	2,10561	2203	4300	6503	SO:0001583	missense	340595						nucleic acid binding|zinc ion binding	g.chrX:111698774G>A	AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823		"Zinc fingers, CCHC domain containing"	25214	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_001004308		Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.818G>A	X.37:g.111698774G>A	ENSP00000340590:p.Arg273His						p.R273H	NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN			1	1048	+			273					B2RPG1	Missense_Mutation	SNP	ENST00000340433.2	37	c.818G>A	CCDS35369.1	.	.	.	.	.	.	.	.	.	.	G	3.910	-0.020201	0.07634	0.0	2.97E-4	ENSG00000187823	ENST00000340433	T	0.77229	-1.08	4.12	-2.82	0.05787	.	0.205055	0.24678	N	0.036493	T	0.69611	0.3130	M	0.64567	1.98	0.09310	N	0.999998	B	0.18013	0.025	B	0.11329	0.006	T	0.57723	-0.7762	10	0.52906	T	0.07	-8.2136	10.5022	0.44813	0.7109:0.0:0.2891:0.0	.	273	Q6ZR62	ZCH16_HUMAN	H	273	ENSP00000340590:R273H	ENSP00000340590:R273H	R	+	2	0	ZCCHC16	111585430	0.010000	0.17322	0.152000	0.22495	0.116000	0.19942	-1.221000	0.02968	-0.976000	0.03542	-2.157000	0.00329	CGC		0.552	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356964.1	NM_001004308		4	161	0	0	0	1	0	4	161					A	111698774	G	A	111698774	3	1	458	1	0	0	0	0	1	0	0	0	17581	1087	38	1	820	1	ZCCHC16	23	111698774	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	42273958	111698774	43571786	69	9378											
AMOT	154796	broad.mit.edu	37	chrX	112058796	112058796	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgtggctgctgctgctgCtgttgttggtggtgatggtg	18	6	0	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chrX:112058796C>T	ENST00000524145.1	-	3	1256	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371959.3_Silent_p.Q394Q			Q4VCS5	AMOT_HUMAN	angiomotin	394					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)	p.Q394Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						gctgctgctgctgttgttggt	0.582																																						ENST00000371959.3																			1	Substitution - coding silent(1)	p.Q394Q(1)	lung(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1180-1182)caG>caA		angiomotin							38	34	36					X																	112058796		2203	4300	6503	SO:0001819	synonymous_variant	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112058796C>T	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1182G>A	X.37:g.112058796C>T						AMOT_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000524145.1_Silent_p.Q394Q	p.Q394Q	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			2	1181	-			394					Q504X5|Q9HD27|Q9UPT1	Silent	SNP	ENST00000524145.1	37	c.1182G>A	CCDS48154.1																																																																																				0.582	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		3	52	0	0	0	1	0	3	52					T	112058796	C	T	112058796	2	4	458	1	0	0	0	0	0	0	0	1	582	796	28	2		2	AMOT	23	112058796	Silent	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08	360022	112058796	43211764	70	9379											
SEPT6	23157	broad.mit.edu	37	chrX	118771054	118771054	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccagcttacagcggcgatAcagctcatagtgccgggtgt	12	12	1	0			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chrX:118771054A>C	ENST00000343984.5	-	7	1156	c.892T>G	c.(892-894)Tat>Gat	p.Y298D	SEPT6_ENST00000394617.2_Missense_Mutation_p.Y328D|SEPT6_ENST00000354416.3_Missense_Mutation_p.Y298D|SEPT6_ENST00000394616.4_Missense_Mutation_p.Y240D|SEPT6_ENST00000394610.1_Missense_Mutation_p.Y298D|SEPT6_ENST00000354228.4_Missense_Mutation_p.Y298D|SEPT6_ENST00000489216.1_Missense_Mutation_p.Y298D|SEPT6_ENST00000360156.7_Missense_Mutation_p.Y298D	NM_015129.5	NP_055944.2	Q14141	SEPT6_HUMAN	septin 6	298	Septin-type G.				cytokinesis (GO:0000910)|viral process (GO:0016032)	axon terminus (GO:0043679)|kinetochore (GO:0000776)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)	GTP binding (GO:0005525)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						CAGCGGCGATACAGCTCATAG	0.612			T	MLL	AML																																	ENST00000394610.1				Dom	yes		X	Xq24	23157	T	septin 6			L	MLL		AML		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						c.(892-894)Tat>Gat		septin 6							125	93	104					X																	118771054		2203	4300	6503	SO:0001583	missense	23157				cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding	g.chrX:118771054A>C	D50918	CCDS14583.1, CCDS14584.1, CCDS14585.1	Xq24	2013-01-21			ENSG00000125354	ENSG00000125354		"Septins"	15848	protein-coding gene	gene with protein product		300683				8590280, 10744683	Standard	NM_015129		Approved	KIAA0128, SEP2, SEPT2, MGC16619, MGC20339	uc004erv.3	Q14141	OTTHUMG00000022280	ENST00000343984.5:c.892T>G	X.37:g.118771054A>C	ENSP00000341524:p.Tyr298Asp					SEPT6_ENST00000394617.2_Missense_Mutation_p.Y328D|SEPT6_ENST00000343984.5_Missense_Mutation_p.Y298D|SEPT6_ENST00000354416.3_Missense_Mutation_p.Y298D|SEPT6_ENST00000354228.4_Missense_Mutation_p.Y298D|SEPT6_ENST00000489216.1_Missense_Mutation_p.Y298D|SEPT6_ENST00000394616.4_Missense_Mutation_p.Y240D|SEPT6_ENST00000360156.7_Missense_Mutation_p.Y298D	p.Y298D	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN			7	1156	-			298					Q5JTK0|Q969W5|Q96A13|Q96GR1|Q96P86|Q96P87	Missense_Mutation	SNP	ENST00000343984.5	37	c.892T>G	CCDS14584.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.483104	0.84747	.	.	ENSG00000125354	ENST00000360156;ENST00000354228;ENST00000489216;ENST00000354416;ENST00000394610;ENST00000343984;ENST00000394616;ENST00000394617	T;T;T;T;T;T;T;T	0.60299	0.2;0.2;0.2;0.2;0.2;0.2;0.2;0.2	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.84804	0.5553	H	0.98542	4.26	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.91635	0.999;0.993;0.999;0.997	D	0.90245	0.4289	10	0.87932	D	0	.	13.4229	0.61009	1.0:0.0:0.0:0.0	.	328;240;298;298	F5H1J5;B4E049;Q14141;Q548C9	.;.;SEPT6_HUMAN;.	D	298;298;298;298;298;298;240;328	ENSP00000353278:Y298D;ENSP00000346169:Y298D;ENSP00000418715:Y298D;ENSP00000346397:Y298D;ENSP00000378108:Y298D;ENSP00000341524:Y298D;ENSP00000378114:Y240D;ENSP00000378115:Y328D	ENSP00000341524:Y298D	Y	-	1	0	SEPT6	118655082	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.962000	0.93254	1.763000	0.52060	0.481000	0.45027	TAT		0.612	SEPT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058059.1	NM_145802		50	137	0	0	0	1	0	50	137					C	118771054	A	C	118771054	3	2	458	1	0	0	0	0	1	0	0	0	14068	391	14	5	450	5	SEPT6	23	118771054	Missense_Mutation	SNP	A	TCGA-IM-A3U2-01A-21D-A22D-08	6712258	118771054	36499506	71	9380											
IGSF1	3547	broad.mit.edu	37	chrX	130416966	130416966	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctcttaccagtcacccagaTtttcaggacatcactaagga	6	12	4	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chrX:130416966T>A	ENST00000361420.3	-	6	1019	c.940A>T	c.(940-942)Atc>Ttc	p.I314F	IGSF1_ENST00000370910.1_Missense_Mutation_p.I305F|IGSF1_ENST00000370904.1_Missense_Mutation_p.I305F|IGSF1_ENST00000370903.3_Missense_Mutation_p.I314F			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	314					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GTCACCCAGATTTTCAGGACA	0.433																																						ENST00000370904.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(913-915)Atc>Ttc		immunoglobulin superfamily, member 1							106	87	93					X																	130416966		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130416966T>A	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.940A>T	X.37:g.130416966T>A	ENSP00000355010:p.Ile314Phe					IGSF1_ENST00000361420.3_Missense_Mutation_p.I314F|IGSF1_ENST00000370903.3_Missense_Mutation_p.I314F|IGSF1_ENST00000370910.1_Missense_Mutation_p.I305F	p.I305F			Q8N6C5	IGSF1_HUMAN			12	1823	-			314			Ig-like C2-type 3.		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.913A>T	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	T	16.55	3.154942	0.57259	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.00986	5.47;5.47;5.47;5.47	4.14	2.98	0.34508	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.136068	0.34200	N	0.004174	T	0.02767	0.0083	M	0.84773	2.715	0.38150	D	0.938707	B;P	0.46784	0.029;0.884	B;P	0.49887	0.022;0.625	T	0.37126	-0.9719	10	0.87932	D	0	.	5.332	0.15938	0.0:0.1283:0.0:0.8717	.	305;314	Q8N6C5-2;Q8N6C5	.;IGSF1_HUMAN	F	305;314;305;314	ENSP00000359947:I305F;ENSP00000355010:I314F;ENSP00000359941:I305F;ENSP00000359940:I314F	ENSP00000355010:I314F	I	-	1	0	IGSF1	130244647	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.751000	0.26348	0.746000	0.32786	0.481000	0.45027	ATC		0.433	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			49	89	0	0	0	1	0	49	89					A	130416966	T	A	130416966	3	1	458	1	0	0	0	0	1	0	0	0	7596	1493	52	5	3145	5	IGSF1	23	130416966	Missense_Mutation	SNP	T	TCGA-IM-A3U2-01A-21D-A22D-08	11645912	130416966	24853594	72	9381											
VPS13D	55187	broad.mit.edu	37	chr1	12387912	12387912	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgaactcaccttttcccGtgagtgttgtactggttttc	9	11	1	2			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr1:12387912G>A	ENST00000358136.3	+	36	8327		c.e36+1		VPS13D_ENST00000356315.4_Splice_Site	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)		ACCTTTTCCCGTGAGTGTTGT	0.403																																						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.e36+1		vacuolar protein sorting 13 homolog D (S. cerevisiae)							138	122	128					1																	12387912		2203	4300	6503	SO:0001630	splice_region_variant	55187				protein localization			g.chr1:12387912G>A	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.8197+1G>A	1.37:g.12387912G>A						VPS13D_ENST00000356315.4_Splice_Site		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)	36	8327	+	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)							Splice_Site	SNP	ENST00000358136.3	37		CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872072	0.91587	.	.	ENSG00000048707	ENST00000356315;ENST00000358136;ENST00000011700	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7654	0.96337	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VPS13D	12310499	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.420000	0.97426	2.750000	0.94351	0.655000	0.94253	.		0.403	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378	Intron	3	38	0	0	0	1	0	3	38					A	12387912	G	A	12387912	5	1	459	1	0	0	0	0	0	0	1	0	17189	1159	40	1	8336	1	VPS13D	1	12387912	Splice_Site	SNP	G	TCGA-IM-A3U3-01A-11D-A22D-08		12387912	236862709	1	9382											
ADC	113451	broad.mit.edu	37	chr1	33583639	33583639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctttgacaacatgggcgCctacactgtgggcatgggtt	14	9	1	1			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr1:33583639C>T	ENST00000294517.6	+	11	1753	c.1166C>T	c.(1165-1167)gCc>gTc	p.A389V	ADC_ENST00000398167.1_Missense_Mutation_p.A409V|ADC_ENST00000373441.1_Missense_Mutation_p.A409V|ADC_ENST00000373443.3_Missense_Mutation_p.A389V|ADC_ENST00000484656.1_3'UTR	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		389					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	AACATGGGCGCCTACACTGTG	0.632																																						ENST00000294517.6																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11						c.(1165-1167)gCc>gTc		arginine decarboxylase	L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)						61	68	65					1																	33583639		2203	4300	6503	SO:0001583	missense	113451				polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity	g.chr1:33583639C>T																												ENST00000294517.6:c.1166C>T	1.37:g.33583639C>T	ENSP00000294517:p.Ala389Val					ADC_ENST00000373443.3_Missense_Mutation_p.A389V|ADC_ENST00000398167.1_Missense_Mutation_p.A409V|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373441.1_Missense_Mutation_p.A409V	p.A389V	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN			11	1753	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	389					B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Missense_Mutation	SNP	ENST00000294517.6	37	c.1166C>T	CCDS375.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143370	0.77888	.	.	ENSG00000142920	ENST00000294517;ENST00000373443;ENST00000398167;ENST00000373441	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64	4.92	4.92	0.64577	Orn/DAP/Arg decarboxylase 2, C-terminal (1);Alanine racemase/group IV decarboxylase, C-terminal (2);	0.000000	0.64402	D	0.000010	D	0.87354	0.6156	H	0.96460	3.825	0.80722	D	1	P;D;D	0.63046	0.93;0.992;0.992	P;P;P	0.57283	0.677;0.817;0.817	D	0.91748	0.5410	10	0.87932	D	0	-16.7378	17.2711	0.87102	0.0:1.0:0.0:0.0	.	409;294;389	Q96A70-2;D3DPR0;Q96A70	.;.;ADC_HUMAN	V	389;389;409;409	ENSP00000294517:A389V;ENSP00000362542:A389V;ENSP00000381233:A409V;ENSP00000362540:A409V	ENSP00000294517:A389V	A	+	2	0	ADC	33356226	1.000000	0.71417	0.998000	0.56505	0.231000	0.25187	7.474000	0.81024	2.434000	0.82447	0.603000	0.83216	GCC		0.632	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011867.1			13	56	0	0	0	1	0	13	56					T	33583639	C	T	33583639	3	4	459	1	0	0	0	0	1	0	0	0	287	739	26	2	1196	2	ADC	1	33583639	Missense_Mutation	SNP	C	TCGA-IM-A3U3-01A-11D-A22D-08	21195727	33583639	215666982	2	9383											
DMAP1	55929	broad.mit.edu	37	chr1	44684778	44684780	+	In_Frame_Del	DEL	GAA	GAA	-													ctgcgcaagattgaggcccgGaagaaggagcgggagaaacg							TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr1:44684778_44684780delGAA	ENST00000372289.2	+	6	1034_1036	c.771_773delGAA	c.(769-774)cggaag>cgg	p.K259del	DMAP1_ENST00000315913.5_In_Frame_Del_p.K259del|DMAP1_ENST00000361745.6_In_Frame_Del_p.K259del|DMAP1_ENST00000488433.1_3'UTR	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	259					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription factor import into nucleus (GO:0042993)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|RNA polymerase II repressing transcription factor binding (GO:0001103)|transcription corepressor activity (GO:0003714)			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					TTGAGGCCCGGAAGAAGGAGCGG	0.606																																						ENST00000372289.2																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(769-774)cgg>cg		DNA methyltransferase 1 associated protein 1																																				SO:0001651	inframe_deletion	55929				DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding	g.chr1:44684778_44684780delGAA	AB037846	CCDS509.1	1p34	2009-07-13			ENSG00000178028	ENSG00000178028			18291	protein-coding gene	gene with protein product		605077				10888872, 10718198	Standard	XM_005271039		Approved	DNMAP1, FLJ11543, KIAA1425, DNMTAP1, EAF2, MEAF2, SWC4	uc001clq.1	Q9NPF5	OTTHUMG00000007577	ENST00000372289.2:c.771_773delGAA	1.37:g.44684781_44684783delGAA	ENSP00000361363:p.Lys259del					DMAP1_ENST00000361745.6_In_Frame_Del_p.RK257del|DMAP1_ENST00000315913.5_In_Frame_Del_p.RK257del|DMAP1_ENST00000488433.1_3'UTR	p.RK257del	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN			6	1034_1036	+	Acute lymphoblastic leukemia(166;0.155)		257					A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	In_Frame_Del	DEL	ENST00000372289.2	37	c.771_773delGAA	CCDS509.1																																																																																				0.606	DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020027.3	NM_019100		8	81						8	81	---	---	---	---	-	44684780	GAA	-	44684778	7	5	459	1	0	1	0	1	0	0	0	0	4576	1161	41	0	793	0	DMAP1	1	44684778	In_Frame_Del	DEL	GAA	TCGA-IM-A3U3-01A-11D-A22D-08	11101139	44684778	204565843	3	9384											
ATPAF1	64756	broad.mit.edu	37	chr1	47110844	47110844	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccacctacctgaatatttaTaagtgcagtgaagtggagtt	10	7	0	2			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr1:47110844T>C	ENST00000371937.4	-	7	777	c.673A>G	c.(673-675)Ata>Gta	p.I225V	ATPAF1_ENST00000576409.1_Missense_Mutation_p.I248V|ATPAF1_ENST00000574428.1_Intron|ATPAF1_ENST00000532925.1_Missense_Mutation_p.I137V|ATPAF1_ENST00000542495.1_Missense_Mutation_p.I74V|ATPAF1_ENST00000329231.4_Intron	NM_022745.4	NP_073582.3	Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1	225					protein complex assembly (GO:0006461)	mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					TGAATATTTATAAGTGCAGTG	0.443																																					Melanoma(138;107 1777 21672 30337 52312)	ENST00000576409.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8						c.(742-744)Ata>Gta		ATP synthase mitochondrial F1 complex assembly factor 1							171	165	167					1																	47110844		2203	4300	6503	SO:0001583	missense	64756				protein complex assembly	mitochondrion	protein binding	g.chr1:47110844T>C	AK026004	CCDS541.1, CCDS41327.1, CCDS541.2, CCDS41327.2, CCDS57997.1, CCDS57998.1	1p33-p32.3	2012-10-12			ENSG00000123472	ENSG00000123472		"Mitochondrial respiratory chain complex assembly factors"	18803	protein-coding gene	gene with protein product		608917				11410595	Standard	NM_022745		Approved	FLJ22351, Atp11p, ATP11	uc001cqh.4	Q5TC12	OTTHUMG00000007988	ENST00000371937.4:c.673A>G	1.37:g.47110844T>C	ENSP00000361005:p.Ile225Val					ATPAF1_ENST00000574428.1_Intron|ATPAF1_ENST00000532925.1_Missense_Mutation_p.I137V|ATPAF1_ENST00000371937.4_Missense_Mutation_p.I225V|ATPAF1_ENST00000329231.4_Intron|ATPAF1_ENST00000542495.1_Missense_Mutation_p.I74V	p.I248V			Q5TC12	ATPF1_HUMAN			7	804	-	Acute lymphoblastic leukemia(166;0.155)		225					B1AQW7|B7Z7D6|B7Z7I6|Q9H6E3	Missense_Mutation	SNP	ENST00000371937.4	37	c.742A>G		.	.	.	.	.	.	.	.	.	.	T	22.5	4.298470	0.81025	.	.	ENSG00000123472	ENST00000371937;ENST00000492233;ENST00000542495;ENST00000532925	T	0.47177	0.85	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.68997	0.3062	M	0.79475	2.455	0.58432	D	0.999994	D;D	0.71674	0.997;0.998	D;D	0.85130	0.997;0.967	T	0.67643	-0.5618	10	0.30078	T	0.28	-11.211	16.1678	0.81782	0.0:0.0:0.0:1.0	.	137;225	B7Z7I6;Q5TC12	.;ATPF1_HUMAN	V	225;29;74;137	ENSP00000361005:I225V	ENSP00000361005:I225V	I	-	1	0	ATPAF1	46883431	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.992000	0.76238	2.218000	0.71995	0.528000	0.53228	ATA		0.443	ATPAF1-201	KNOWN	basic	protein_coding	protein_coding		NM_022745		48	117	0	0	0	1	0	48	117					C	47110844	T	C	47110844	3	2	459	1	0	0	0	0	1	0	0	0	1200	1406	49	3	325	3	ATPAF1	1	47110844	Missense_Mutation	SNP	T	TCGA-IM-A3U3-01A-11D-A22D-08	2426066	47110844	202139777	4	9385											
HIPK1	204851	broad.mit.edu	37	chr1	114499825	114499825	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagtgagtcagatcaagagtCccttcactacacatgttgcc	8	12	3	3			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr1:114499825C>T	ENST00000369558.1	+	7	1904	c.1672C>T	c.(1672-1674)Ccc>Tcc	p.P558S	HIPK1_ENST00000426820.2_Missense_Mutation_p.P558S|HIPK1_ENST00000369559.4_Missense_Mutation_p.P558S|HIPK1_ENST00000369553.1_Missense_Mutation_p.P164S|HIPK1_ENST00000340480.4_Missense_Mutation_p.P184S|HIPK1_ENST00000406344.1_Missense_Mutation_p.P164S|HIPK1_ENST00000369561.4_Intron|HIPK1_ENST00000369555.2_Missense_Mutation_p.P558S|HIPK1_ENST00000369554.2_Missense_Mutation_p.P558S			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	558					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|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)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-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)		GATCAAGAGTCCCTTCACTAC	0.388																																						ENST00000369558.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39						c.(1672-1674)Ccc>Tcc		homeodomain interacting protein kinase 1							152	128	136					1																	114499825		2203	4300	6503	SO:0001583	missense	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114499825C>T	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.1672C>T	1.37:g.114499825C>T	ENSP00000358571:p.Pro558Ser					HIPK1_ENST00000369561.4_Intron|HIPK1_ENST00000369559.4_Missense_Mutation_p.P558S|HIPK1_ENST00000426820.2_Missense_Mutation_p.P558S|HIPK1_ENST00000406344.1_Missense_Mutation_p.P164S|HIPK1_ENST00000369553.1_Missense_Mutation_p.P164S|HIPK1_ENST00000369555.2_Missense_Mutation_p.P558S|HIPK1_ENST00000369554.2_Missense_Mutation_p.P558S|HIPK1_ENST00000340480.4_Missense_Mutation_p.P184S	p.P558S			Q86Z02	HIPK1_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)	7	1904	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	558					A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	c.1672C>T	CCDS867.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380031	0.42207	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000340480;ENST00000369553;ENST00000406344	T;T;T;T;T;T;T;T;T	0.50277	0.77;0.79;0.82;0.75;0.75;0.82;3.82;1.91;1.91	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000001	T	0.44993	0.1320	L	0.31752	0.955	0.47819	D	0.999525	P;P;D	0.67145	0.699;0.9;0.996	B;B;D	0.78314	0.306;0.362;0.991	T	0.11867	-1.0570	10	0.09843	T	0.71	.	19.2559	0.93945	0.0:1.0:0.0:0.0	.	164;558;558	Q86Z02-4;Q86Z02;Q86Z02-2	.;HIPK1_HUMAN;.	S	629;558;558;558;558;558;184;164;164	ENSP00000407442:P629S;ENSP00000358572:P558S;ENSP00000409673:P558S;ENSP00000358567:P558S;ENSP00000358568:P558S;ENSP00000358571:P558S;ENSP00000340956:P184S;ENSP00000358566:P164S;ENSP00000384960:P164S	ENSP00000340956:P184S	P	+	1	0	HIPK1	114301348	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.592000	0.53993	2.861000	0.98227	0.650000	0.86243	CCC		0.388	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		6	122	0	0	0	1	0	6	122					T	114499825	C	T	114499825	3	4	459	1	0	0	0	0	1	0	0	0	7116	855	30	2	1712	2	HIPK1	1	114499825	Missense_Mutation	SNP	C	TCGA-IM-A3U3-01A-11D-A22D-08	67388981	114499825	134750796	5	9386											
FAM161A	84140	broad.mit.edu	37	chr2	62081111	62081111	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgggcgacccgcgctccagtGatgggatttaccggggtctg	16	11	1	1			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr2:62081111G>C	ENST00000405894.3	-	1	167	c.66C>G	c.(64-66)atC>atG	p.I22M	FAM161A_ENST00000404929.1_Missense_Mutation_p.I22M	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	22					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCGCTCCAGTGATGGGATTTA	0.672																																						ENST00000404929.1																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(64-66)atC>atG		family with sequence similarity 161, member A							29	29	29					2																	62081111		1568	3582	5150	SO:0001583	missense	84140				response to stimulus|visual perception	centrosome		g.chr2:62081111G>C		CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"retinitis pigmentosa 28 (autosomal recessive)"	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.66C>G	2.37:g.62081111G>C	ENSP00000385893:p.Ile22Met					FAM161A_ENST00000405894.3_Missense_Mutation_p.I22M	p.I22M	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN			1	77	-			22					B4DJV7|Q9H8R2	Missense_Mutation	SNP	ENST00000405894.3	37	c.66C>G	CCDS42687.2	.	.	.	.	.	.	.	.	.	.	G	9.438	1.087274	0.20390	.	.	ENSG00000170264	ENST00000404929;ENST00000405894	T;T	0.22539	2.76;1.95	4.08	2.23	0.28157	.	.	.	.	.	T	0.12944	0.0314	N	0.22421	0.69	0.09310	N	1	B;P	0.35124	0.353;0.485	B;B	0.34652	0.123;0.187	T	0.19484	-1.0304	9	0.44086	T	0.13	.	5.7186	0.17974	0.1073:0.1975:0.6951:0.0	.	22;22	Q3B820;Q3B820-3	F161A_HUMAN;.	M	22	ENSP00000385158:I22M;ENSP00000385893:I22M	ENSP00000303170:I22M	I	-	3	3	FAM161A	61934615	0.021000	0.18746	0.022000	0.16811	0.011000	0.07611	0.593000	0.23999	0.655000	0.30866	-0.244000	0.11960	ATC		0.672	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180		15	20	0	0	0	1	0	15	20					C	62081111	G	C	62081111	3	2	459	1	0	0	0	0	1	0	0	0	5472	1280	45	4	1940	4	FAM161A	2	62081111	Missense_Mutation	SNP	G	TCGA-IM-A3U3-01A-11D-A22D-08		62081111	181118262	6	9387											
HK2	3099	broad.mit.edu	37	chr2	75113626	75113626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgattggcaggcacgggcaGcaatgcctgctacatggagg	16	9	0	1			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr2:75113626G>A	ENST00000290573.2	+	15	2645	c.2045G>A	c.(2044-2046)aGc>aAc	p.S682N	HK2_ENST00000409174.1_Missense_Mutation_p.S654N	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	682	Catalytic.|Hexokinase type-2 2.|Substrate 2 binding.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GGCACGGGCAGCAATGCCTGC	0.592																																						ENST00000290573.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						c.(2044-2046)aGc>aAc		hexokinase 2							104	96	99					2																	75113626		2203	4300	6503	SO:0001583	missense	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75113626G>A		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.2045G>A	2.37:g.75113626G>A	ENSP00000290573:p.Ser682Asn					HK2_ENST00000409174.1_Missense_Mutation_p.S654N	p.S682N	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN			15	2645	+			682			Catalytic.|Substrate 2 binding.		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	c.2045G>A	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530729	0.64860	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.96745	-4.11;-4.11	5.49	5.49	0.81192	Hexokinase, C-terminal (1);	0.036056	0.85682	D	0.000000	D	0.97151	0.9069	M	0.92412	3.305	0.48762	D	0.999703	P	0.40578	0.722	B	0.41202	0.35	D	0.97807	1.0248	10	0.66056	D	0.02	-27.503	16.9239	0.86170	0.0:0.0:1.0:0.0	.	682	P52789	HXK2_HUMAN	N	682;682;654	ENSP00000290573:S682N;ENSP00000387140:S654N	ENSP00000290573:S682N	S	+	2	0	HK2	74967134	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.990000	0.49401	2.865000	0.98341	0.655000	0.94253	AGC		0.592	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		3	92	0	0	0	1	0	3	92					A	75113626	G	A	75113626	3	1	459	1	0	0	0	0	1	0	0	0	7191	971	34	2	2103	2	HK2	2	75113626	Missense_Mutation	SNP	G	TCGA-IM-A3U3-01A-11D-A22D-08	13032515	75113626	168085747	7	9388											
ABCB11	8647	broad.mit.edu	37	chr2	169781177	169781177	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caacacttaccttttcacttTctgtgtctaaggcagaagtg	7	10	3	1			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr2:169781177T>C	ENST00000263817.6	-	27	3879	c.3755A>G	c.(3754-3756)gAa>gGa	p.E1252G		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1252	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CTTTTCACTTTCTGTGTCTAA	0.363																																						ENST00000263817.6																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57						c.(3754-3756)gAa>gGa		ATP-binding cassette, sub-family B (MDR/TAP), member 11	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						97	97	97					2																	169781177		1857	4096	5953	SO:0001583	missense	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169781177T>C	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"ATP binding cassette transporters / subfamily B"	42	protein-coding gene	gene with protein product	"ABC member 16, MDR/TAP subfamily"	603201	"progressive familial intrahepatic cholestasis 2", "bile salt export pump"	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.3755A>G	2.37:g.169781177T>C	ENSP00000263817:p.Glu1252Gly						p.E1252G	NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN			27	3879	-			1252			ABC transporter 2.		Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	c.3755A>G	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.725880	0.89298	.	.	ENSG00000073734	ENST00000263817	D	0.85484	-1.99	5.67	5.67	0.87782	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.92014	0.7470	M	0.75085	2.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92917	0.6352	10	0.87932	D	0	-4.0579	15.9338	0.79686	0.0:0.0:0.0:1.0	.	670;1252	B4DZQ8;O95342	.;ABCBB_HUMAN	G	1252	ENSP00000263817:E1252G	ENSP00000263817:E1252G	E	-	2	0	ABCB11	169489423	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.040000	0.89188	2.167000	0.68274	0.456000	0.33151	GAA		0.363	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		6	72	0	0	0	1	0	6	72					C	169781177	T	C	169781177	3	2	459	1	0	0	0	0	1	0	0	0	42	1783	62	3	218	3	ABCB11	2	169781177	Missense_Mutation	SNP	T	TCGA-IM-A3U3-01A-11D-A22D-08	94667551	169781177	73418196	8	9389											
TTN	7273	broad.mit.edu	37	chr2	179598614	179598614	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tactttctttacaaaggttgGaggttctagttaaggaaaga	10	4	2	1			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr2:179598614G>T	ENST00000591111.1	-	51	14775	c.14551C>A	c.(14551-14553)Cca>Aca	p.P4851T	TTN_ENST00000589042.1_Missense_Mutation_p.P5168T|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P3924T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12233	Ig-like 29.				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)			ACAAAGGTTGGAGGTTCTAGT	0.368																																						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.(15502-15504)Cca>Aca		titin							51	49	49					2																	179598614		1870	4102	5972	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179598614G>T	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.14551C>A	2.37:g.179598614G>T	ENSP00000465570:p.Pro4851Thr					TTN_ENST00000591111.1_Missense_Mutation_p.P4851T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P3924T|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA	p.P5168T	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)		53	15726	-			4851			Ig-like 32.		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.15502C>A		.	.	.	.	.	.	.	.	.	.	G	13.37	2.215640	0.39102	.	.	ENSG00000155657	ENST00000342992	T	0.80994	-1.44	5.99	5.99	0.97316	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);	.	.	.	.	D	0.95105	0.8414	H	0.99368	4.535	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96665	0.9492	9	0.87932	D	0	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	4851	Q8WZ42	TITIN_HUMAN	T	3924	ENSP00000343764:P3924T	ENSP00000343764:P3924T	P	-	1	0	TTN	179306859	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	9.395000	0.97266	2.840000	0.97914	0.655000	0.94253	CCA		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	34	1	0	8.12818e-05	1	8.29407e-05	6	34					T	179598614	G	T	179598614	3	4	459	1	0	0	0	0	1	0	0	0	16732	1174	41	4	89267	4	TTN	2	179598614	Missense_Mutation	SNP	G	TCGA-IM-A3U3-01A-11D-A22D-08	9817437	179598614	63600759	9	9390											
CHRND	1144	broad.mit.edu	37	chr2	233398945	233398945	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtctgtaggccggcccccaGcaagctctgagcaggcccag	13	16	2	1			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr2:233398945G>A	ENST00000258385.3	+	11	1296	c.1264G>A	c.(1264-1266)Gca>Aca	p.A422T	CHRND_ENST00000543200.1_Missense_Mutation_p.A407T|CHRND_ENST00000457943.2_Missense_Mutation_p.A228T	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	422					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	CCGGCCCCCAGCAAGCTCTGA	0.592																																						ENST00000258385.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34						c.(1264-1266)Gca>Aca		cholinergic receptor, nicotinic, delta (muscle)							47	51	50					2																	233398945		2203	4300	6503	SO:0001583	missense	1144				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr2:233398945G>A	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1965	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, delta (muscle)"	100720	"cholinergic receptor, nicotinic, delta"	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.1264G>A	2.37:g.233398945G>A	ENSP00000258385:p.Ala422Thr					CHRND_ENST00000543200.1_Missense_Mutation_p.A407T|CHRND_ENST00000457943.2_Missense_Mutation_p.A228T	p.A422T	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	11	1296	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	422					A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	ENST00000258385.3	37	c.1264G>A	CCDS2494.1	.	.	.	.	.	.	.	.	.	.	g	13.11	2.139802	0.37728	.	.	ENSG00000135902	ENST00000543200;ENST00000258385;ENST00000457943	D;D;D	0.85171	-1.95;-1.95;-1.95	5.19	3.27	0.37495	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.020910	0.07976	U	0.984799	T	0.73938	0.3651	N	0.16066	0.365	0.18873	N	0.999982	B;B;B;B	0.33777	0.425;0.32;0.32;0.32	B;B;B;B	0.34301	0.089;0.179;0.179;0.179	T	0.56878	-0.7906	10	0.12430	T	0.62	.	12.2737	0.54721	0.0:0.2352:0.7648:0.0	.	228;407;422;422	B4E3W4;B4DT92;A8K661;Q07001	.;.;.;ACHD_HUMAN	T	407;422;228	ENSP00000438380:A407T;ENSP00000258385:A422T;ENSP00000391055:A228T	ENSP00000258385:A422T	A	+	1	0	CHRND	233107189	0.000000	0.05858	0.970000	0.41538	0.903000	0.53119	0.291000	0.18994	1.164000	0.42652	0.457000	0.33378	GCA		0.592	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2			3	59	0	0	0	1	0	3	59					A	233398945	G	A	233398945	3	1	459	1	0	0	0	0	1	0	0	0	3394	971	34	2	1306	2	CHRND	2	233398945	Missense_Mutation	SNP	G	TCGA-IM-A3U3-01A-11D-A22D-08	53800331	233398945	9800428	10	9391											
DUSP7	1849	broad.mit.edu	37	chr3	52084880	52084880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggttgtggttggtgggcGtggaaaagtagagctgctca	17	5	1	1	rs201355085		TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr3:52084880G>A	ENST00000495880.1	-	3	1394	c.1211C>T	c.(1210-1212)aCg>aTg	p.T404M	DUSP7_ENST00000296483.6_Missense_Mutation_p.T353M			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	404					inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of MAP kinase activity (GO:0043407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)	p.T353M(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTTGGTGGGCGTGGAAAAGTA	0.622																																						ENST00000495880.1																			1	Substitution - Missense(1)	p.T353M(1)	large_intestine(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17						c.(1210-1212)aCg>aTg		dual specificity phosphatase 7							152	119	130					3																	52084880		2203	4300	6503	SO:0001583	missense	1849				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity	g.chr3:52084880G>A	X93921	CCDS33766.1, CCDS33766.2	3p21	2011-06-09			ENSG00000164086	ENSG00000164086		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3073	protein-coding gene	gene with protein product		602749				8626780, 9205128	Standard	NM_001947		Approved	MKP-X, PYST2	uc003dct.3	Q16829	OTTHUMG00000157819	ENST00000495880.1:c.1211C>T	3.37:g.52084880G>A	ENSP00000417183:p.Thr404Met					DUSP7_ENST00000296483.6_Missense_Mutation_p.T353M	p.T404M			Q16829	DUS7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	3	1394	-			404					Q2M3J7|Q8NFJ0	Missense_Mutation	SNP	ENST00000495880.1	37	c.1211C>T	CCDS33766.2	.	.	.	.	.	.	.	.	.	.	g	22.9	4.356160	0.82243	.	.	ENSG00000164086	ENST00000495880;ENST00000296483	T;T	0.02863	4.13;4.17	5.75	4.88	0.63580	.	0.048847	0.85682	N	0.000000	T	0.12178	0.0296	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	T	0.00460	-1.1726	10	0.87932	D	0	.	14.4233	0.67198	0.0715:0.0:0.9285:0.0	.	404	Q16829	DUS7_HUMAN	M	404;353	ENSP00000417183:T404M;ENSP00000296483:T353M	ENSP00000296483:T353M	T	-	2	0	DUSP7	52059920	1.000000	0.71417	0.937000	0.37676	0.813000	0.45954	9.859000	0.99545	1.448000	0.47680	-0.148000	0.13756	ACG		0.622	DUSP7-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349697.1	NM_001947		3	53	0	0	0	1	0	3	53					A	52084880	G	A	52084880	3	1	459	1	0	0	0	0	1	0	0	0	4830	1145	40	1	52	1	DUSP7	3	52084880	Missense_Mutation	SNP	G	TCGA-IM-A3U3-01A-11D-A22D-08		52084880	145937550	11	9392											
CCDC66	285331	broad.mit.edu	37	chr3	56597934	56597934	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagactgtcttcatatccagAaagagatttcacctgcaacc	6	11	3	3			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr3:56597934A>G	ENST00000394672.3	+	4	395	c.325A>G	c.(325-327)Aaa>Gaa	p.K109E	CCDC66_ENST00000436465.2_Missense_Mutation_p.K109E|CCDC66_ENST00000442522.2_3'UTR|CCDC66_ENST00000326595.7_Missense_Mutation_p.K75E|CCDC66_ENST00000538560.1_Missense_Mutation_p.K109E	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	109					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		TCATATCCAGAAAGAGATTTC	0.358																																						ENST00000394672.3																			0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12						c.(325-327)Aaa>Gaa		coiled-coil domain containing 66							60	55	57					3																	56597934		2203	4300	6503	SO:0001583	missense	285331							g.chr3:56597934A>G	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.325A>G	3.37:g.56597934A>G	ENSP00000378167:p.Lys109Glu					CCDC66_ENST00000442522.2_3'UTR|CCDC66_ENST00000436465.2_Missense_Mutation_p.K109E|CCDC66_ENST00000538560.1_Missense_Mutation_p.K109E|CCDC66_ENST00000326595.7_Missense_Mutation_p.K75E	p.K109E	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)	4	395	+			109					B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	ENST00000394672.3	37	c.325A>G	CCDS46852.1	.	.	.	.	.	.	.	.	.	.	A	12.29	1.893150	0.33442	.	.	ENSG00000180376	ENST00000422222;ENST00000394672;ENST00000326595;ENST00000436465;ENST00000538560	D;D;D;D;D	0.99598	-6.26;-6.26;-6.26;-6.26;-6.26	5.75	4.61	0.57282	.	.	.	.	.	D	0.98425	0.9476	L	0.56769	1.78	0.09310	N	1	B;B	0.32753	0.176;0.383	B;B	0.26094	0.037;0.066	D	0.97682	1.0173	9	0.66056	D	0.02	-12.4368	9.3364	0.38054	0.9195:0.0:0.0805:0.0	.	109;109	A2RUB6;A2RUB6-2	CCD66_HUMAN;.	E	109;109;75;109;109	ENSP00000401451:K109E;ENSP00000378167:K109E;ENSP00000326050:K75E;ENSP00000404320:K109E;ENSP00000444919:K109E	ENSP00000326050:K75E	K	+	1	0	CCDC66	56572974	0.604000	0.26932	0.003000	0.11579	0.037000	0.13140	3.397000	0.52572	1.010000	0.39314	0.533000	0.62120	AAA		0.358	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		4	22	0	0	0	1	0	4	22					G	56597934	A	G	56597934	3	3	459	1	0	0	0	0	1	0	0	0	2838	247	9	3	339	3	CCDC66	3	56597934	Missense_Mutation	SNP	A	TCGA-IM-A3U3-01A-11D-A22D-08	4513054	56597934	141424496	12	9393											
CBLB	868	broad.mit.edu	37	chr3	105464772	105464772	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagtcttaccttccgggtttGgtgctatatttctgtagtcg	10	8	2	0			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr3:105464772G>T	ENST00000264122.4	-	6	1155	c.834C>A	c.(832-834)acC>acA	p.T278T	CBLB_ENST00000394027.3_Silent_p.T300T|CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000405772.1_Silent_p.T278T|CBLB_ENST00000403724.1_Silent_p.T278T	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	278	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|SH2-like.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TTCCGGGTTTGGTGCTATATT	0.373			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	ENST00000264122.4				Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						c.(832-834)acC>acA		Cbl proto-oncogene B, E3 ubiquitin protein ligase							144	154	151					3																	105464772		2203	4300	6503	SO:0001819	synonymous_variant	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105464772G>T	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"RING-type (C3HC4) zinc fingers"	1542	protein-coding gene	gene with protein product		604491	"Cas-Br-M (murine) ectropic retroviral transforming sequence b", "Cas-Br-M (murine) ecotropic retroviral transforming sequence b"			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.834C>A	3.37:g.105464772G>T						CBLB_ENST00000394027.3_Silent_p.T300T|CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000403724.1_Silent_p.T278T|CBLB_ENST00000405772.1_Silent_p.T278T	p.T278T	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN			6	1155	-			278			Cbl-PTB.|SH2-like.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Silent	SNP	ENST00000264122.4	37	c.834C>A	CCDS2948.1																																																																																				0.373	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		10	169	1	0	4.3838e-07	1	4.56646e-07	10	169					T	105464772	G	T	105464772	2	4	459	1	0	0	0	0	0	0	0	1	2701	1335	47	4		4	CBLB	3	105464772	Silent	SNP	G	TCGA-IM-A3U3-01A-11D-A22D-08	48866838	105464772	92557658	13	9394											
DZIP3	9666	broad.mit.edu	37	chr3	108405390	108405390	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccatcatgaattgggagagAattacagacaggctgaaaac	10	7	1	4			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr3:108405390A>G	ENST00000361582.3	+	28	3338	c.3108A>G	c.(3106-3108)agA>agG	p.R1036R	DZIP3_ENST00000463306.1_Silent_p.R1036R	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	1036					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						ATTGGGAGAGAATTACAGACA	0.498																																						ENST00000361582.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.(3106-3108)agA>agG		DAZ interacting zinc finger protein 3							123	122	123					3																	108405390		2203	4300	6503	SO:0001819	synonymous_variant	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108405390A>G	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30938	protein-coding gene	gene with protein product	"human RNA-binding ubiquitin ligase of 138 kDa", "protein phosphatase 1, regulatory subunit 66"	608672	"DAZ interacting protein 3, zinc finger"			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.3108A>G	3.37:g.108405390A>G						DZIP3_ENST00000463306.1_Silent_p.R1036R	p.R1036R	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN			28	3338	+			1036					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Silent	SNP	ENST00000361582.3	37	c.3108A>G	CCDS2952.1																																																																																				0.498	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		20	129	0	0	0	1	0	20	129					G	108405390	A	G	108405390	2	3	459	1	0	0	0	0	0	0	0	1	4865	243	9	3		3	DZIP3	3	108405390	Silent	SNP	A	TCGA-IM-A3U3-01A-11D-A22D-08	2940618	108405390	89617040	14	9395											
KIAA2018	205717	broad.mit.edu	37	chr3	113377559	113377559	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgtggtttgcattgtatcTgatgaatcttgctcaactct	8	9	4	2			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr3:113377559T>C	ENST00000478658.1	-	5	2987	c.2970A>G	c.(2968-2970)tcA>tcG	p.S990S	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Silent_p.S990S			Q68DE3	K2018_HUMAN	KIAA2018	990						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GCATTGTATCTGATGAATCTT	0.393																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(2968-2970)tcA>tcG		KIAA2018							113	106	108					3																	113377559		1870	4096	5966	SO:0001819	synonymous_variant	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113377559T>C	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.2970A>G	3.37:g.113377559T>C						KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Silent_p.S990S	p.S990S	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	3380	-			990					Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	ENST00000478658.1	37	c.2970A>G	CCDS43133.1																																																																																				0.393	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		3	105	0	0	0	1	0	3	105					C	113377559	T	C	113377559	2	2	459	1	0	0	0	0	0	0	0	1	8268	1567	55	3		3	KIAA2018	3	113377559	Silent	SNP	T	TCGA-IM-A3U3-01A-11D-A22D-08	4972169	113377559	84644871	15	9396											
SLC41A3	54946	broad.mit.edu	37	chr3	125786908	125786908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctaggctcagtctccagtGgcttgggggtcacgctttgg	15	10	3	0			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr3:125786908G>A	ENST00000315891.6	-	2	393	c.155C>T	c.(154-156)cCa>cTa	p.P52L	SLC41A3_ENST00000508835.1_Intron|SLC41A3_ENST00000514023.1_5'UTR|AC117422.1_ENST00000581281.1_RNA|SLC41A3_ENST00000346785.5_Missense_Mutation_p.P52L|SLC41A3_ENST00000360370.4_Missense_Mutation_p.P52L	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		AGTCTCCAGTGGCTTGGGGGT	0.632																																						ENST00000360370.4																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(154-156)cCa>cTa		solute carrier family 41, member 3							111	107	108					3																	125786908		2203	4300	6503	SO:0001583	missense	54946					integral to membrane|plasma membrane	cation transmembrane transporter activity	g.chr3:125786908G>A		CCDS33842.1, CCDS33843.1, CCDS33844.1, CCDS43144.1, CCDS54635.1	3q21.2	2013-09-02			ENSG00000114544	ENSG00000114544		"Solute carriers"	31046	protein-coding gene	gene with protein product		610803					Standard	NM_001164475		Approved	FLJ20473	uc003eij.3	Q96GZ6	OTTHUMG00000162678	ENST00000315891.6:c.155C>T	3.37:g.125786908G>A	ENSP00000326070:p.Pro52Leu					SLC41A3_ENST00000514023.1_5'UTR|SLC41A3_ENST00000508835.1_Intron|SLC41A3_ENST00000346785.5_Missense_Mutation_p.P52L|SLC41A3_ENST00000315891.6_Missense_Mutation_p.P52L	p.P52L			Q96GZ6	S41A3_HUMAN		GBM - Glioblastoma multiforme(114;0.167)	2	198	-			52					A6ND60|B3KSD9|B7Z4Y2|C9JE96|E7ENY4|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	Missense_Mutation	SNP	ENST00000315891.6	37	c.155C>T	CCDS33843.1	.	.	.	.	.	.	.	.	.	.	G	7.387	0.630085	0.14257	.	.	ENSG00000114544	ENST00000360370;ENST00000346785;ENST00000458524;ENST00000315891;ENST00000514677;ENST00000513723;ENST00000512470;ENST00000510651;ENST00000514333;ENST00000507280;ENST00000514891;ENST00000504035;ENST00000509064;ENST00000509452	T;T;T;T;T;T;T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51	3.95	-0.71	0.11234	.	0.793313	0.10312	N	0.689888	T	0.16727	0.0402	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.10296	0.0;0.001;0.003;0.003	B;B;B;B	0.08055	0.001;0.001;0.003;0.003	T	0.34700	-0.9818	10	0.11182	T	0.66	0.5592	5.3577	0.16071	0.1074:0.0:0.3311:0.5615	.	52;52;52;52	A8MQ22;E7ENY4;Q96GZ6-3;Q96GZ6	.;.;.;S41A3_HUMAN	L	52	ENSP00000353533:P52L;ENSP00000264471:P52L;ENSP00000326070:P52L;ENSP00000422828:P52L;ENSP00000425373:P52L;ENSP00000421008:P52L;ENSP00000423524:P52L;ENSP00000422458:P52L;ENSP00000422531:P52L;ENSP00000423154:P52L;ENSP00000421940:P52L;ENSP00000424882:P52L;ENSP00000422150:P52L	ENSP00000326070:P52L	P	-	2	0	SLC41A3	127269598	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.443000	0.21644	0.039000	0.15632	-0.182000	0.12963	CCA		0.632	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370886.1	NM_017836		13	126	0	0	0	1	0	13	126					A	125786908	G	A	125786908	3	1	459	1	0	0	0	0	1	0	0	0	14631	1348	47	2	1709	2	SLC41A3	3	125786908	Missense_Mutation	SNP	G	TCGA-IM-A3U3-01A-11D-A22D-08	12409349	125786908	72235522	16	9397											
GOLPH3	64083	broad.mit.edu	37	chr5	32126343	32126343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgaacgccgccaccaccGcccacagaacctcattggtg	10	16	1	2			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr5:32126343G>A	ENST00000265070.6	-	4	1187	c.872C>T	c.(871-873)gCg>gTg	p.A291V	GOLPH3_ENST00000512668.1_5'Flank	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	291					cell adhesion molecule production (GO:0060352)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|gene expression (GO:0010467)|glycoprotein biosynthetic process (GO:0009101)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi vesicle budding (GO:0048194)|lamellipodium assembly (GO:0030032)|leukocyte tethering or rolling (GO:0050901)|positive regulation of protein secretion (GO:0050714)|positive regulation of TOR signaling (GO:0032008)|protein retention in Golgi apparatus (GO:0045053)|protein secretion (GO:0009306)|regulation of mitochondrion organization (GO:0010821)	cytosol (GO:0005829)|endosome (GO:0005768)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|phosphatidylinositol-4-phosphate binding (GO:0070273)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						CGCCACCACCGCCCACAGAAC	0.498																																						ENST00000265070.6																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						c.(871-873)gCg>gTg		golgi phosphoprotein 3 (coat-protein)							115	110	112					5																	32126343		2203	4300	6503	SO:0001583	missense	64083				cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding	g.chr5:32126343G>A	AK075156	CCDS3896.1	5p13.2	2008-07-18			ENSG00000113384	ENSG00000113384			15452	protein-coding gene	gene with protein product	"golgi peripheral membrane protein 1, 34 kDa", "golgi protein", "coat-protein", "golgi-associated protein"	612207				11042173, 16263763	Standard	NM_022130		Approved	GPP34, GOPP1, MIDAS	uc003jhp.1	Q9H4A6	OTTHUMG00000090679	ENST00000265070.6:c.872C>T	5.37:g.32126343G>A	ENSP00000265070:p.Ala291Val						p.A291V	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN			4	1187	-			291					Q9UIW5	Missense_Mutation	SNP	ENST00000265070.6	37	c.872C>T	CCDS3896.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786740	0.49997	.	.	ENSG00000113384	ENST00000265070;ENST00000542582	.	.	.	6.08	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.79435	0.4445	M	0.86953	2.85	0.80722	D	1	D	0.76494	0.999	P	0.60345	0.873	T	0.83166	-0.0096	9	0.56958	D	0.05	.	15.3777	0.74625	0.0664:0.0:0.9336:0.0	.	291	Q9H4A6	GOLP3_HUMAN	V	291;274	.	ENSP00000265070:A291V	A	-	2	0	GOLPH3	32162100	1.000000	0.71417	0.932000	0.37286	0.066000	0.16364	9.414000	0.97362	1.595000	0.50050	-0.136000	0.14681	GCG		0.498	GOLPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207363.2	NM_022130		10	179	0	0	0	1	0	10	179					A	32126343	G	A	32126343	3	1	459	1	0	0	0	0	1	0	0	0	6568	1087	38	1	28	1	GOLPH3	5	32126343	Missense_Mutation	SNP	G	TCGA-IM-A3U3-01A-11D-A22D-08		32126343	148788917	17	9398											
PCDHA11	56138	broad.mit.edu	37	chr5	140249717	140249717	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggaaatcttggacaccaaCgataactctcctgaagtcgc	9	11	2	1	rs371110623		TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr5:140249717C>T	ENST00000398640.2	+	1	1029	c.1029C>T	c.(1027-1029)aaC>aaT	p.N343N	PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	343	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)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACACCAACGATAACTCTC	0.512																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(1027-1029)aaC>aaT				C	,,,,,,,,,,,,,,	0,4406		0,0,2203	61	70	67		,,1029,,,,,,,,,,,,1029	-4.4	0.3	5		67	2,8598	2.2+/-6.3	0,2,4298	no	intron,intron,coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous	PCDHA9,PCDHA11,PCDHA10,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018901.2,NM_018902.3,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1,NM_031860.1,NM_031861.1	,,,,,,,,,,,,,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,,,,,,,,,,,,,	,,343/950,,,,,,,,,,,,343/811	140249717	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140249717C>T	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1029C>T	5.37:g.140249717C>T						PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron	p.N343N	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1029	+								B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	c.1029C>T	CCDS47284.1																																																																																				0.512	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		3	97	0	0	0	1	0	3	97					T	140249717	C	T	140249717	2	4	459	1	0	0	0	0	0	0	0	1	11521	535	19	1		1	PCDHA11	5	140249717	Silent	SNP	C	TCGA-IM-A3U3-01A-11D-A22D-08	108123374	140249717	40665543	18	9399											
CD74	972	broad.mit.edu	37	chr5	149782174	149782174	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcccagaagacgggtcctCcagttccagtgactctgcaa	10	14	1	3	rs139226964		TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr5:149782174C>T	ENST00000009530.7	-	8	833	c.832G>A	c.(832-834)Gag>Aag	p.E278K	CD74_ENST00000524315.1_Intron|CD74_ENST00000353334.6_Missense_Mutation_p.E214K|CD74_ENST00000377795.3_Nonsense_Mutation_p.W152*			P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain	278					activation of MAPK activity (GO:0000187)|antigen processing and presentation of endogenous antigen (GO:0019883)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|chaperone mediated protein folding requiring cofactor (GO:0051085)|defense response (GO:0006952)|immunoglobulin mediated immune response (GO:0016064)|intracellular protein transport (GO:0006886)|macrophage migration inhibitory factor signaling pathway (GO:0035691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of peptide secretion (GO:0002792)|negative regulation of T cell differentiation (GO:0045581)|negative thymic T cell selection (GO:0045060)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of type 2 immune response (GO:0002830)|positive thymic T cell selection (GO:0045059)|prostaglandin biosynthetic process (GO:0001516)|protein complex assembly (GO:0006461)|regulation of macrophage activation (GO:0043030)|signal transduction (GO:0007165)|T cell selection (GO:0045058)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|macrophage migration inhibitory factor receptor complex (GO:0035692)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|NOS2-CD74 complex (GO:0035693)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)|vacuole (GO:0005773)	beta-amyloid binding (GO:0001540)|cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|macrophage migration inhibitory factor binding (GO:0035718)|MHC class II protein binding (GO:0042289)|MHC class II protein binding, via antigen binding groove (GO:0042658)|MHC class II protein complex binding (GO:0023026)|protein binding involved in protein folding (GO:0044183)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACGGGTCCTCCAGTTCCAGT	0.602			T	ROS1	NSCLC																																	ENST00000377795.3				Dom	yes		5	5q32	972	T	"CD74 molecule, major histocompatibility complex, class II invariant chain"			E	ROS1		NSCLC		0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5						c.(454-456)tgG>tgA		CD74 molecule, major histocompatibility complex, class II invariant chain		C	stop/TRP,LYS/GLU,LYS/GLU	0,4406		0,0,2203	122	103	109		456,832,640	3.7	0.2	5	dbSNP_134	109	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained,missense,missense	CD74	NM_001025158.2,NM_001025159.2,NM_004355.3	,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,benign,benign	152/161,278/297,214/233	149782174	1,13005	2203	4300	6503	SO:0001583	missense	972				antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding	g.chr5:149782174C>T		CCDS34276.1, CCDS47308.1, CCDS47309.1	5q32	2012-09-20	2006-03-28		ENSG00000019582	ENSG00000019582		"CD molecules"	1697	protein-coding gene	gene with protein product	"HLA-DR-gamma", "Ia-associated invariant chain", "gamma chain of class II antigens", "MHC HLA-DR gamma chain"	142790	"CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated)"	DHLAG		6324166, 3001652	Standard	NM_004355		Approved		uc003lsc.3	P04233	OTTHUMG00000163559	ENST00000009530.7:c.832G>A	5.37:g.149782174C>T	ENSP00000009530:p.Glu278Lys					CD74_ENST00000524315.1_Intron|CD74_ENST00000353334.6_Missense_Mutation_p.E214K|CD74_ENST00000009530.7_Missense_Mutation_p.E278K	p.W152*	NM_001025158.2	NP_001020329.1	P04233	HG2A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	475	-		all_hematologic(541;0.224)	0					A8K7R1|B4DNE8|D3DQG3|D3DQG4|Q14597|Q29832|Q5U0J8|Q8SNA0|Q8WLP6	Nonsense_Mutation	SNP	ENST00000009530.7	37	c.456G>A	CCDS47309.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	13.29|13.29|13.29	2.194213|2.194213|2.194213	0.38707|0.38707|0.38707	0.0|0.0|0.0	1.16E-4|1.16E-4|1.16E-4	ENSG00000019582|ENSG00000019582|ENSG00000019582	ENST00000353334;ENST00000009530|ENST00000518797|ENST00000377795	T|.|.	0.58210|.|.	0.35|.|.	3.7|3.7|3.7	3.7|3.7|3.7	0.42460|0.42460|0.42460	.|.|.	0.305787|.|.	0.35903|.|.	N|.|.	0.002906|.|.	T|T|.	0.32526|0.32526|.	0.0832|0.0832|.	.|.|.	.|.|.	.|.|.	0.09310|0.09310|0.09310	N|N|N	1|1|1	D;D;D|.|.	0.67145|.|.	0.996;0.963;0.993|.|.	D;B;D|.|.	0.75484|.|.	0.986;0.431;0.968|.|.	T|T|.	0.12915|0.12915|.	-1.0529|-1.0529|.	9|4|.	0.52906|.|0.18276	T|.|T	0.07|.|0.48	-26.0103|-26.0103|-26.0103	11.3263|11.3263|11.3263	0.49450|0.49450|0.49450	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	214;278;126|.|.	P04233-2;P04233;B4DUJ2|.|.	.;HG2A_HUMAN;.|.|.	K|E|X	214;278|272|152	ENSP00000009530:E278K|.|.	ENSP00000009530:E278K|.|ENSP00000367026:W152X	E|G|W	-|-|-	1|2|3	0|0|0	CD74|CD74|CD74	149762367|149762367|149762367	0.765000|0.765000|0.765000	0.28485|0.28485|0.28485	0.170000|0.170000|0.170000	0.22879|0.22879|0.22879	0.103000|0.103000|0.103000	0.19146|0.19146|0.19146	2.894000|2.894000|2.894000	0.48640|0.48640|0.48640	2.384000|2.384000|2.384000	0.81235|0.81235|0.81235	0.555000|0.555000|0.555000	0.69702|0.69702|0.69702	GAG|GGA|TGG		0.602	CD74-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374178.1	NM_004355		4	183	0	0	0	1	0	4	183					T	149782174	C	T	149782174	3	4	459	1	0	0	0	0	1	0	0	0	3035	865	30	2	66	2	CD74	5	149782174	Missense_Mutation	SNP	C	TCGA-IM-A3U3-01A-11D-A22D-08	9532457	149782174	31133086	19	9400											
C2	717	broad.mit.edu	37	chr6	31911265	31911265	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacagcagctcattgcttcCgcgatggcaacgaccactcc	9	15	1	1			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr6:31911265C>T	ENST00000299367.5	+	12	1804	c.1528C>T	c.(1528-1530)Cgc>Tgc	p.R510C	C2_ENST00000469372.1_Missense_Mutation_p.R264C|CFB_ENST00000556679.1_Missense_Mutation_p.R357C|CFB_ENST00000456570.1_Missense_Mutation_p.R357C|C2_ENST00000442278.2_Missense_Mutation_p.R378C|CFB_ENST00000477310.1_Missense_Mutation_p.R281C|CFB_ENST00000425368.2_5'Flank|C2_ENST00000452323.2_Missense_Mutation_p.R296C	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	510	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		TCATTGCTTCCGCGATGGCAA	0.597																																						ENST00000456570.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(1069-1071)Cgc>Tgc		complement factor B							104	120	114					6																	31911265		1510	2708	4218	SO:0001583	missense	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31911265C>T		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"Complement system"	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.1528C>T	6.37:g.31911265C>T	ENSP00000299367:p.Arg510Cys					CFB_ENST00000477310.1_Missense_Mutation_p.R281C|C2_ENST00000469372.1_Missense_Mutation_p.R264C|C2_ENST00000442278.2_Missense_Mutation_p.R378C|C2_ENST00000452323.2_Missense_Mutation_p.R296C|C2_ENST00000299367.5_Missense_Mutation_p.R510C|CFB_ENST00000556679.1_Missense_Mutation_p.R357C	p.R357C			P00751	CFAB_HUMAN			9	1124	+			529	KK -> EE (in Ref. 10; AAA36225).		VWFA.		B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	c.1069C>T	CCDS4728.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.316574	0.40996	.	.	ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000469372;ENST00000497706;ENST00000432397;ENST00000452323;ENST00000299367;ENST00000375493;ENST00000442278;ENST00000556679;ENST00000456570;ENST00000477310	D;D;D;D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46	5.11	4.22	0.49857	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.726383	0.11289	N	0.579431	D	0.87826	0.6275	M	0.70787	2.145	0.31484	N	0.666765	D;D;D;D;D;D;D;P;D	0.71674	0.98;0.998;0.997;0.982;0.991;0.996;0.982;0.938;0.99	B;P;P;P;P;P;P;P;P	0.54924	0.408;0.764;0.667;0.667;0.576;0.56;0.576;0.642;0.598	T	0.80623	-0.1300	10	0.38643	T	0.18	-3.0248	10.6626	0.45710	0.3468:0.6532:0.0:0.0	.	357;481;296;264;378;195;378;510;297	B4E1Z4;B4DV48;B4DPF3;B4DQI1;E9PFN7;F8VNY6;B4DV20;P06681;E9PDZ0	.;.;.;.;.;.;.;CO2_HUMAN;.	C	264;297;297;296;510;195;378;357;357;281	ENSP00000418923:R264C;ENSP00000417482:R297C;ENSP00000392322:R296C;ENSP00000299367:R510C;ENSP00000395683:R378C;ENSP00000451848:R357C;ENSP00000410815:R357C;ENSP00000418996:R281C	ENSP00000299367:R510C	R	+	1	0	CFB;C2;XXbac-BPG116M5.17	32019244	0.012000	0.17670	0.807000	0.32361	0.088000	0.18126	-0.029000	0.12329	1.125000	0.41998	0.563000	0.77884	CGC		0.597	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			21	174	0	0	0	1	0	21	174					T	31911265	C	T	31911265	3	4	459	1	0	0	0	0	1	0	0	0	2074	652	23	1	1651	1	C2	6	31911265	Missense_Mutation	SNP	C	TCGA-IM-A3U3-01A-11D-A22D-08		31911265	139203802	20	9401											
GTF2IRD1	9569	broad.mit.edu	37	chr7	73927266	73927266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaatgttcctgaatgcccGgaaggagctacagtcagact	12	9	1	3	rs191451503	byFrequency	TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr7:73927266G>A	ENST00000265755.3	+	3	623	c.230G>A	c.(229-231)cGg>cAg	p.R77Q	GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.R77Q|GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.R77Q|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.R77Q|GTF2IRD1_ENST00000489094.1_3'UTR	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	77					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTGAATGCCCGGAAGGAGCTA	0.637													G|||	2	0.000399361	8e-04	0.0014	5008	,	,		17386	0		0	False		,,,				2504	0					ENST00000476977.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(229-231)cGg>cAg		GTF2I repeat domain containing 1							97	83	87					7																	73927266		2203	4300	6503	SO:0001583	missense	9569					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr7:73927266G>A	AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"binding factor for early enhancer"	604318	"GTF2I repeat domain-containing 1"	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.230G>A	7.37:g.73927266G>A	ENSP00000265755:p.Arg77Gln					GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.R77Q|GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.R77Q|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.R77Q	p.R77Q			Q9UHL9	GT2D1_HUMAN			3	1921	+			77					O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	ENST00000265755.3	37	c.230G>A	CCDS5571.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	35	5.536166	0.96460	.	.	ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	T;T;T;T	0.58940	0.33;0.4;0.37;0.3	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.73575	0.3604	M	0.62723	1.935	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.992;0.994;0.996;0.998	T	0.77485	-0.2570	10	0.87932	D	0	-16.0288	16.5297	0.84355	0.0:0.0:1.0:0.0	.	77;77;77;77	Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2	.;.;GT2D1_HUMAN;.	Q	77	ENSP00000265755:R77Q;ENSP00000397566:R77Q;ENSP00000408477:R77Q;ENSP00000418383:R77Q	ENSP00000265755:R77Q	R	+	2	0	GTF2IRD1	73565202	1.000000	0.71417	0.914000	0.36105	0.956000	0.61745	8.865000	0.92300	2.219000	0.72066	0.650000	0.86243	CGG		0.637	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328		3	98	0	0	0	1	0	3	98					A	73927266	G	A	73927266	3	1	459	1	0	0	0	0	1	0	0	0	6868	1116	39	1	236	1	GTF2IRD1	7	73927266	Missense_Mutation	SNP	G	TCGA-IM-A3U3-01A-11D-A22D-08		73927266	85211397	21	9402											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		37	56	0	0	0	1	0	37	56					T	140453136	A	T	140453136	3	4	459	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-IM-A3U3-01A-11D-A22D-08	66525870	140453136	18685527	22	9403											
TMEM71	137835	broad.mit.edu	37	chr8	133740227	133740227	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagagaagaacagtctaaatCatctgctgaaaaagcagagg	10	7	3	4			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr8:133740227C>T	ENST00000356838.3	-	6	578	c.436G>A	c.(436-438)Gat>Aat	p.D146N	TMEM71_ENST00000377901.4_Intron|TMEM71_ENST00000523829.1_Missense_Mutation_p.D165N	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	165						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CAGTCTAAATCATCTGCTGAA	0.478																																						ENST00000356838.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						c.(436-438)Gat>Aat		transmembrane protein 71							59	57	58					8																	133740227		2203	4300	6503	SO:0001583	missense	137835					integral to membrane		g.chr8:133740227C>T	AK057631	CCDS6366.1, CCDS47921.1	8q24.22	2005-09-02				ENSG00000165071			26572	protein-coding gene	gene with protein product						12477932	Standard	NM_144649		Approved	FLJ33069	uc003ytn.3	Q6P5X7		ENST00000356838.3:c.436G>A	8.37:g.133740227C>T	ENSP00000349296:p.Asp146Asn					TMEM71_ENST00000377901.4_Intron|TMEM71_ENST00000523829.1_Missense_Mutation_p.D165N	p.D146N	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		6	578	-	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		165					Q3KRC2|Q8WVZ4|Q96LX9	Missense_Mutation	SNP	ENST00000356838.3	37	c.436G>A	CCDS6366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.37|11.37	1.619494|1.619494	0.28801|0.28801	.|.	.|.	ENSG00000165071|ENSG00000165071	ENST00000523829;ENST00000356838|ENST00000522780	.|.	.|.	.|.	5.91|5.91	2.99|2.99	0.34606|0.34606	.|.	0.407172|.	0.24479|.	N|.	0.038165|.	T|T	0.48003|0.48003	0.1476|0.1476	M|M	0.70595|0.70595	2.14|2.14	0.09310|0.09310	N|N	1|1	B;B|.	0.14438|.	0.01;0.01|.	B;B|.	0.17098|.	0.017;0.015|.	T|T	0.36720|0.36720	-0.9736|-0.9736	9|5	0.59425|.	D|.	0.04|.	-2.0827|-2.0827	7.3154|7.3154	0.26498|0.26498	0.0:0.6866:0.1542:0.1593|0.0:0.6866:0.1542:0.1593	.|.	165;146|.	Q6P5X7;Q6P5X7-2|.	TMM71_HUMAN;.|.	N|I	165;146|2	.|.	ENSP00000349296:D146N|.	D|M	-|-	1|3	0|0	TMEM71|TMEM71	133809409|133809409	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.035000|0.035000	0.12851|0.12851	0.206000|0.206000	0.17375|0.17375	0.850000|0.850000	0.35239|0.35239	0.655000|0.655000	0.94253|0.94253	GAT|ATG		0.478	TMEM71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379591.1	NM_144649		9	60	0	0	0	1	0	9	60					T	133740227	C	T	133740227	3	4	459	1	0	0	0	0	1	0	0	0	16197	826	29	2	414	2	TMEM71	8	133740227	Missense_Mutation	SNP	C	TCGA-IM-A3U3-01A-11D-A22D-08		133740227	12623795	23	9404											
TG	7038	broad.mit.edu	37	chr8	133935742	133935743	+	Frame_Shift_Del	DEL	CA	CA	-													agaggcccctcttgaggactCacagtgtttgagtaggtgct							TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr8:133935742_133935743delCA	ENST00000220616.4	+	22	4728_4729	c.4688_4689delCA	c.(4687-4689)tcafs	p.S1563fs	TG_ENST00000377869.1_Intron|TG_ENST00000542445.1_5'UTR	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1563	Thyroglobulin type-1 11. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTTGAGGACTCACAGTGTTTGA	0.594																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(4687-4689)tfs		thyroglobulin																																				SO:0001589	frameshift_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133935742_133935743delCA	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4688_4689delCA	8.37:g.133935744_133935745delCA	ENSP00000220616:p.Ser1563fs					TG_ENST00000542445.1_5'UTR|TG_ENST00000377869.1_Intron	p.S1563fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	22	4728_4729	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1563			Thyroglobulin type-1 11.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Frame_Shift_Del	DEL	ENST00000220616.4	37	c.4688_4689delCA	CCDS34944.1																																																																																				0.594	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		10	34						10	34	---	---	---	---	-	133935743	CA	-	133935742	7	5	459	1	0	1	0	1	0	0	0	0	15810	838	29	0	4774	0	TG	8	133935742	Frame_Shift_Del	DEL	CA	TCGA-IM-A3U3-01A-11D-A22D-08	195515	133935742	12428280	24	9405											
GOLGA1	2800	broad.mit.edu	37	chr9	127651460	127651460	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtgcttcggcctgcaatgGgccccgcagcctcagcaggt	14	14	1	0			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr9:127651460G>A	ENST00000373555.4	-	18	2056	c.1723C>T	c.(1723-1725)Cca>Tca	p.P575S	RNU4-82P_ENST00000362443.1_RNA	NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	575					protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						GCCTGCAATGGGCCCCGCAGC	0.647																																						ENST00000373555.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						c.(1723-1725)Cca>Tca		golgin A1							55	48	51					9																	127651460		2203	4300	6503	SO:0001583	missense	2800					Golgi cisterna membrane		g.chr9:127651460G>A	U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"golgi autoantigen, golgin subfamily a, 1"			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.1723C>T	9.37:g.127651460G>A	ENSP00000362656:p.Pro575Ser						p.P575S	NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN			18	2056	-			575					Q5T164|Q8IYZ9	Missense_Mutation	SNP	ENST00000373555.4	37	c.1723C>T	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	G	7.582	0.668964	0.14776	.	.	ENSG00000136935	ENST00000373555	T	0.20332	2.08	4.44	3.5	0.40072	.	0.337294	0.21110	N	0.080009	T	0.13329	0.0323	N	0.22421	0.69	0.09310	N	1	B	0.18610	0.029	B	0.14023	0.01	T	0.22626	-1.0211	10	0.19590	T	0.45	3.1982	11.5159	0.50520	0.0:0.0:0.8199:0.1801	.	575	Q92805	GOGA1_HUMAN	S	575	ENSP00000362656:P575S	ENSP00000362656:P575S	P	-	1	0	GOLGA1	126691281	0.943000	0.32029	0.013000	0.15412	0.160000	0.22226	3.257000	0.51500	1.120000	0.41904	0.448000	0.29417	CCA		0.647	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	NM_002077		5	87	0	0	0	1	0	5	87					A	127651460	G	A	127651460	3	1	459	1	0	0	0	0	1	0	0	0	6551	1232	43	2	604	2	GOLGA1	9	127651460	Missense_Mutation	SNP	G	TCGA-IM-A3U3-01A-11D-A22D-08		127651460	13561971	25	9406											
ANK3	288	broad.mit.edu	37	chr10	61835974	61835974	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaactgaagatgtagttgaCgcgcctaatgtggatttgat	11	5	0	4	rs554877557		TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr10:61835974C>T	ENST00000280772.2	-	37	4856	c.4665G>A	c.(4663-4665)gcG>gcA	p.A1555A	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1555	Ser-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATGTAGTTGACGCGCCTAATG	0.418													C|||	1	0.000199681	0	0	5008	,	,		21743	0		0	False		,,,				2504	0.001					ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(4663-4665)gcG>gcA		ankyrin 3, node of Ranvier (ankyrin G)							215	190	199					10																	61835974		2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61835974C>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.4665G>A	10.37:g.61835974C>T						ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	p.A1555A	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	4856	-			1555			Ser-rich.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.4665G>A	CCDS7258.1																																																																																				0.418	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		6	212	0	0	0	1	0	6	212					T	61835974	C	T	61835974	2	4	459	1	0	0	0	0	0	0	0	1	622	523	19	1		1	ANK3	10	61835974	Silent	SNP	C	TCGA-IM-A3U3-01A-11D-A22D-08		61835974	73698773	26	9407											
STT3A	3703	broad.mit.edu	37	chr11	125476246	125476246	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaacttaattcctctccaCgtcctcgtgctgatgctcac	5	15	3	1	rs370018090		TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr11:125476246C>T	ENST00000529196.1	+	9	872	c.666C>T	c.(664-666)caC>caT	p.H222H	STT3A_ENST00000392708.4_Silent_p.H222H|STT3A_ENST00000531491.1_Silent_p.H130H			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	222					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		TTCCTCTCCACGTCCTCGTGC	0.478																																						ENST00000392708.4																			0				NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33						c.(664-666)caC>caT		STT3A, subunit of the oligosaccharyltransferase complex (catalytic)		C		0,4402		0,0,2201	371	317	335		666	-6.7	0.8	11		335	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	STT3A	NM_152713.3		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		222/706	125476246	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	3703				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity	g.chr11:125476246C>T	BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"dolichyl-diphosphooligosaccharide protein glycotransferase"	601134	"integral membrane protein 1", "STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)", "STT3A, cataylic subunit of the oligosaccharyltransferase complex"	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.666C>T	11.37:g.125476246C>T						STT3A_ENST00000531491.1_Silent_p.H130H|STT3A_ENST00000529196.1_Silent_p.H222H	p.H222H	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)	8	825	+	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	222					B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Silent	SNP	ENST00000529196.1	37	c.666C>T	CCDS8458.1																																																																																				0.478	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386691.1	NM_152713		4	170	0	0	0	1	0	4	170					T	125476246	C	T	125476246	2	4	459	1	0	0	0	0	0	0	0	1	15332	535	19	1		1	STT3A	11	125476246	Silent	SNP	C	TCGA-IM-A3U3-01A-11D-A22D-08		125476246	9530270	27	9408											
NAV3	89795	broad.mit.edu	37	chr12	78400935	78400935	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagttccaacagtaaagcaAaccatttcacctggcagcac	6	12	1	0			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr12:78400935A>C	ENST00000397909.2	+	8	1790	c.1617A>C	c.(1615-1617)caA>caC	p.Q539H	NAV3_ENST00000228327.6_Missense_Mutation_p.Q539H|NAV3_ENST00000536525.2_Missense_Mutation_p.Q539H|NAV3_ENST00000266692.7_Missense_Mutation_p.Q539H			Q8IVL0	NAV3_HUMAN	neuron navigator 3	539						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAGTAAAGCAAACCATTTCAC	0.468										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(1615-1617)caA>caC		neuron navigator 3							61	61	61					12																	78400935		1899	4123	6022	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400935A>C	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1617A>C	12.37:g.78400935A>C	ENSP00000381007:p.Gln539His	HNSCC(70;0.22)				NAV3_ENST00000228327.6_Missense_Mutation_p.Q539H|NAV3_ENST00000266692.7_Missense_Mutation_p.Q539H|NAV3_ENST00000536525.2_Missense_Mutation_p.Q539H	p.Q539H			Q8IVL0	NAV3_HUMAN			8	1790	+			539					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.1617A>C		.	.	.	.	.	.	.	.	.	.	A	10.46	1.356103	0.24598	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51	5.29	-4.94	0.03057	.	0.192337	0.24705	U	0.036278	T	0.24624	0.0597	L	0.54323	1.7	0.36961	D	0.893349	B;D	0.60160	0.371;0.987	B;P	0.60682	0.2;0.878	T	0.04885	-1.0920	10	0.54805	T	0.06	-6.2321	16.8911	0.86087	0.3546:0.0:0.6454:0.0	.	539;539	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	H	539	ENSP00000446628:Q539H;ENSP00000446132:Q539H;ENSP00000381007:Q539H;ENSP00000228327:Q539H;ENSP00000266692:Q539H	ENSP00000228327:Q539H	Q	+	3	2	NAV3	76925066	0.056000	0.20664	0.203000	0.23512	0.157000	0.22087	-0.799000	0.04560	-0.870000	0.04047	-0.911000	0.02809	CAA		0.468	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		6	48	0	0	0	1	0	6	48					C	78400935	A	C	78400935	3	2	459	1	0	0	0	0	1	0	0	0	10185	11	1	5	1647	5	NAV3	12	78400935	Missense_Mutation	SNP	A	TCGA-IM-A3U3-01A-11D-A22D-08		78400935	55450960	28	9409											
CAB39L	81617	broad.mit.edu	37	chr13	49925022	49925022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctcagcataatcccacaaCgtaaggcaatctgtggggct	9	12	2	0	rs149022536		TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr13:49925022C>T	ENST00000355854.4	-	5	919	c.422G>A	c.(421-423)cGt>cAt	p.R141H	CAB39L_ENST00000410043.1_Missense_Mutation_p.R141H|CAB39L_ENST00000347776.5_Missense_Mutation_p.R141H|CAB39L_ENST00000409308.1_Missense_Mutation_p.R141H|CAB39L_ENST00000409130.1_5'UTR	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	141					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)		p.R141H(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		AATCCCACAACGTAAGGCAAT	0.358																																						ENST00000355854.4																			1	Substitution - Missense(1)	p.R141H(1)	endometrium(1)	breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12						c.(421-423)cGt>cAt		calcium binding protein 39-like		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	99	95	97		422,422	4.8	1.0	13	dbSNP_134	97	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	CAB39L	NM_001079670.1,NM_030925.2	29,29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign	141/338,141/338	49925022	2,13004	2203	4300	6503	SO:0001583	missense	81617				cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding	g.chr13:49925022C>T	AK022639	CCDS9416.2	13q14.11	2008-02-05			ENSG00000102547	ENSG00000102547			20290	protein-coding gene	gene with protein product		612175					Standard	NM_030925		Approved	bA103J18.3, FLJ12577, MO2L	uc001vcw.3	Q9H9S4	OTTHUMG00000016914	ENST00000355854.4:c.422G>A	13.37:g.49925022C>T	ENSP00000348113:p.Arg141His					CAB39L_ENST00000409308.1_Missense_Mutation_p.R141H|CAB39L_ENST00000409130.1_5'UTR|CAB39L_ENST00000347776.5_Missense_Mutation_p.R141H|CAB39L_ENST00000410043.1_Missense_Mutation_p.R141H	p.R141H	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)	5	919	-		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	141					Q5TAW6|Q6WG71|Q96FG1|Q9BZ33	Missense_Mutation	SNP	ENST00000355854.4	37	c.422G>A	CCDS9416.2	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354878	0.41700	2.27E-4	1.16E-4	ENSG00000102547	ENST00000355854;ENST00000347776;ENST00000378341;ENST00000409308;ENST00000425242;ENST00000410043;ENST00000457041	T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62	5.64	4.79	0.61399	Armadillo-like helical (1);Armadillo-type fold (1);	0.094194	0.85682	D	0.000000	T	0.07818	0.0196	N	0.00377	-1.585	0.43211	D	0.995075	B	0.11235	0.004	B	0.10450	0.005	T	0.16808	-1.0390	9	.	.	.	-6.0057	10.1874	0.43006	0.0:0.8485:0.0:0.1515	.	141	Q9H9S4	CB39L_HUMAN	H	141;141;138;141;104;141;141	ENSP00000348113:R141H;ENSP00000261669:R141H;ENSP00000386375:R141H;ENSP00000416719:R104H;ENSP00000386328:R141H;ENSP00000409253:R141H	.	R	-	2	0	CAB39L	48823023	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.194000	0.51005	1.516000	0.48900	0.650000	0.86243	CGT		0.358	CAB39L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044908.3	NM_030925		9	78	0	0	0	1	0	9	78					T	49925022	C	T	49925022	3	4	459	1	0	0	0	0	1	0	0	0	2526	536	19	1	611	1	CAB39L	13	49925022	Missense_Mutation	SNP	C	TCGA-IM-A3U3-01A-11D-A22D-08		49925022	65244856	29	9410											
ARRB2	409	broad.mit.edu	37	chr17	4619841	4619841	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaacccaccccggccccccAcccgcctgcaggaccggctg	9	24	0	0			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr17:4619841A>C	ENST00000269260.2	+	5	528	c.295A>C	c.(295-297)Acc>Ccc	p.T99P	ARRB2_ENST00000412477.3_Missense_Mutation_p.T99P|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000346341.2_Missense_Mutation_p.T84P|ARRB2_ENST00000381488.6_Missense_Mutation_p.T84P|ARRB2_ENST00000575877.1_Missense_Mutation_p.T99P|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000571206.1_5'UTR	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	99					adult walking behavior (GO:0007628)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell chemotaxis (GO:0060326)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|Notch signaling pathway (GO:0007219)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|receptor internalization (GO:0031623)|regulation of androgen receptor signaling pathway (GO:0060765)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	angiotensin receptor binding (GO:0031701)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CCGGCCCCCCACCCGCCTGCA	0.682																																						ENST00000269260.2																			0				large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						c.(295-297)Acc>Ccc		arrestin, beta 2																																				SO:0001583	missense	409				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding	g.chr17:4619841A>C		CCDS11050.1, CCDS11051.1, CCDS58504.1, CCDS58505.1, CCDS59276.1	17p13	2008-12-11			ENSG00000141480	ENSG00000141480			712	protein-coding gene	gene with protein product	"arrestin 3"	107941		ARR2		7695743	Standard	NM_001257329		Approved	BARR2, DKFZp686L0365	uc002fyl.3	P32121	OTTHUMG00000090759	ENST00000269260.2:c.295A>C	17.37:g.4619841A>C	ENSP00000269260:p.Thr99Pro					ARRB2_ENST00000381488.6_Missense_Mutation_p.T84P|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000346341.2_Missense_Mutation_p.T84P|ARRB2_ENST00000575877.1_Missense_Mutation_p.T99P|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000412477.3_Missense_Mutation_p.T99P	p.T99P	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN			5	528	+			99					B4DLW0|B5B0C0|B7WPL3|D3DTK2|H0Y688|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	Missense_Mutation	SNP	ENST00000269260.2	37	c.295A>C	CCDS11050.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.340849	0.81911	.	.	ENSG00000141480	ENST00000381488;ENST00000269260;ENST00000346341;ENST00000412477	T;T	0.23147	1.92;1.92	4.84	4.84	0.62591	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.051921	0.85682	D	0.000000	T	0.60612	0.2282	H	0.94222	3.51	0.80722	D	1	D;D;D;B;D	0.76494	0.999;0.974;0.99;0.26;0.963	D;P;D;B;P	0.77004	0.989;0.816;0.912;0.089;0.884	T	0.71951	-0.4437	10	0.87932	D	0	-9.8224	12.4157	0.55492	1.0:0.0:0.0:0.0	.	99;84;99;84;99	B4DLW0;P32121-2;P32121-3;G5E980;P32121	.;.;.;.;ARRB2_HUMAN	P	99;99;84;100	ENSP00000269260:T99P;ENSP00000341895:T84P	ENSP00000269260:T99P	T	+	1	0	ARRB2	4566590	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	6.916000	0.75776	2.050000	0.60909	0.460000	0.39030	ACC		0.682	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439552.1	NM_004313		7	31	0	0	0	1	0	7	31					C	4619841	A	C	4619841	3	2	459	1	0	0	0	0	1	0	0	0	981	159	6	5	313	5	ARRB2	17	4619841	Missense_Mutation	SNP	A	TCGA-IM-A3U3-01A-11D-A22D-08		4619841	76575369	30	9411											
NKPD1	284353	broad.mit.edu	37	chr19	45655769	45655771	+	In_Frame_Del	DEL	CTG	CTG	-													gtggggcccccaaagtccccCtgctgctgctgctgctgcag							TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr19:45655769_45655771delCTG	ENST00000438936.2	-	3	1469_1471	c.1258_1260delCAG	c.(1258-1260)cagdel	p.Q420del	AC005757.7_ENST00000589594.1_lincRNA|NKPD1_ENST00000589776.1_In_Frame_Del_p.Q420del|NKPD1_ENST00000429338.1_In_Frame_Del_p.Q420del|NKPD1_ENST00000317951.4_In_Frame_Del_p.Q642del			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1	420	Poly-Gln.					integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CAAAGTCCCCCTGCTGCTGCTGC	0.704																																						ENST00000317951.4																			0				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8						c.(1924-1926)del		NTPase, KAP family P-loop domain containing 1				80,72,3002		15,0,50,16,40,1456						2.5	0.9			7	8,143,6913		1,0,6,18,107,3400	no	codingComplex	NKPD1	NM_198478.3		16,0,56,34,147,4856	A1A1,A1A2,A1R,A2A2,A2R,RR		2.1376,4.8193,2.9654				88,215,9915				SO:0001651	inframe_deletion	284353							g.chr19:45655769_45655771delCTG	AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.1258_1260delCAG	19.37:g.45655778_45655780delCTG	ENSP00000401739:p.Gln420del					NKPD1_ENST00000438936.2_In_Frame_Del_p.Q420del|NKPD1_ENST00000429338.1_In_Frame_Del_p.Q420del|NKPD1_ENST00000589776.1_In_Frame_Del_p.Q420del	p.Q642del	NM_198478.3	NP_940880.3				OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)	4	1923_1925	-		Ovarian(192;0.0728)|all_neural(266;0.112)						B7ZLG6|D6RH15|Q8N2A2	In_Frame_Del	DEL	ENST00000438936.2	37	c.1924_1926delCAG																																																																																					0.704	NKPD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000360950.2	NM_198478		4	7						4	7	---	---	---	---	-	45655771	CTG	-	45655769	7	5	459	1	0	1	0	1	0	0	0	0	10446	680	24	0	576	0	NKPD1	19	45655769	In_Frame_Del	DEL	CTG	TCGA-IM-A3U3-01A-11D-A22D-08		45655769	13473214	31	9412											
ARFGEF2	10564	broad.mit.edu	37	chr20	47611096	47611096	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaagggagcctgaagggcCacacattggcaggagaagag	17	7	0	4			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr20:47611096C>T	ENST00000371917.4	+	22	3082	c.3082C>T	c.(3082-3084)Cac>Tac	p.H1028Y		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1028					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CCTGAAGGGCCACACATTGGC	0.572																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	ENST00000371917.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(3082-3084)Cac>Tac		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)							61	51	54					20																	47611096		2203	4300	6503	SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47611096C>T	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.3082C>T	20.37:g.47611096C>T	ENSP00000360985:p.His1028Tyr						p.H1028Y	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		22	3082	+			1028					Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.3082C>T	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	C	4.054	0.007673	0.07866	.	.	ENSG00000124198	ENST00000371917	T	0.22945	1.93	5.65	2.21	0.28008	Armadillo-type fold (1);	0.451658	0.26887	N	0.021996	T	0.13457	0.0326	N	0.22421	0.69	0.30641	N	0.756472	B	0.02656	0.0	B	0.01281	0.0	T	0.10497	-1.0627	10	0.25751	T	0.34	.	5.3664	0.16115	0.0:0.4789:0.0:0.5211	.	1028	Q9Y6D5	BIG2_HUMAN	Y	1028	ENSP00000360985:H1028Y	ENSP00000360985:H1028Y	H	+	1	0	ARFGEF2	47044503	0.984000	0.35163	1.000000	0.80357	0.997000	0.91878	1.346000	0.33964	0.866000	0.35629	0.655000	0.94253	CAC		0.572	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		5	37	0	0	0	1	0	5	37					T	47611096	C	T	47611096	3	4	459	1	0	0	0	0	1	0	0	0	853	594	21	2	3168	2	ARFGEF2	20	47611096	Missense_Mutation	SNP	C	TCGA-IM-A3U3-01A-11D-A22D-08		47611096	15414424	32	9413											
RBM10	8241	broad.mit.edu	37	chrX	47030582	47030582	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggaggaggaggaGgatgaggaggaggaggagaa	25	0	0	2			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chrX:47030582G>T	ENST00000377604.3	+	4	1099	c.357G>T	c.(355-357)gaG>gaT	p.E119D	RBM10_ENST00000345781.6_Intron|RBM10_ENST00000329236.7_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	119	Poly-Glu.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						aggaggaggaggatgaggagg	0.662																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						c.(355-357)gaG>gaT		RNA binding motif protein 10							20	19	19					X																	47030582		2202	4294	6496	SO:0001583	missense	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47030582G>T	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.357G>T	X.37:g.47030582G>T	ENSP00000366829:p.Glu119Asp					RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000345781.6_Intron|RBM10_ENST00000329236.7_Intron	p.E119D	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN			4	1099	+			119			Poly-Glu.		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	37	c.357G>T	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	7.514	0.655267	0.14580	.	.	ENSG00000182872	ENST00000377604	T	0.11169	2.8	3.1	1.15	0.20763	Nucleotide-binding, alpha-beta plait (1);	0.859005	0.09469	N	0.797951	T	0.04815	0.0130	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.38628	-0.9652	10	0.11182	T	0.66	-1.7872	6.9396	0.24486	0.0:0.0:0.4873:0.5127	.	184;119;119	Q7Z3D7;P98175-2;P98175	.;.;RBM10_HUMAN	D	119	ENSP00000366829:E119D	ENSP00000366829:E119D	E	+	3	2	RBM10	46915526	1.000000	0.71417	0.776000	0.31678	0.914000	0.54420	0.961000	0.29267	0.165000	0.19558	0.502000	0.49764	GAG		0.662	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		3	37	1	0	1	1	1	3	37					T	47030582	G	T	47030582	3	4	459	1	0	0	0	0	1	0	0	0	13111	991	35	4	367	4	RBM10	23	47030582	Missense_Mutation	SNP	G	TCGA-IM-A3U3-01A-11D-A22D-08		47030582	108239978	33	9414											
NAP1L3	4675	broad.mit.edu	37	chrX	92928233	92928233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccagaatcactagtcgagCtagccatctcctcttcggca	7	16	3	1			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chrX:92928233C>T	ENST00000373079.3	-	1	334	c.71G>A	c.(70-72)aGc>aAc	p.S24N	NAP1L3_ENST00000475430.2_Missense_Mutation_p.S17N|FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000355813.5_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	24	Ser-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						ACTAGTCGAGCTAGCCATCTC	0.542																																						ENST00000373079.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(70-72)aGc>aAc		nucleosome assembly protein 1-like 3							54	49	50					X																	92928233		2203	4300	6503	SO:0001583	missense	4675				nucleosome assembly	chromatin assembly complex		g.chrX:92928233C>T		CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.71G>A	X.37:g.92928233C>T	ENSP00000362171:p.Ser24Asn					NAP1L3_ENST00000475430.1_5'UTR	p.S24N	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN			1	334	-			24			Ser-rich.		B2RCM0|O60788	Missense_Mutation	SNP	ENST00000373079.3	37	c.71G>A	CCDS14465.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.073644	0.36566	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.48836	0.8	3.65	1.86	0.25419	.	0.340383	0.31847	N	0.006978	T	0.27278	0.0669	N	0.24115	0.695	0.23585	N	0.997357	B	0.12013	0.005	B	0.09377	0.004	T	0.12091	-1.0561	10	0.45353	T	0.12	.	3.8083	0.08786	0.2387:0.631:0.0:0.1303	.	24	Q99457	NP1L3_HUMAN	N	24;17	ENSP00000362171:S24N	ENSP00000362171:S24N	S	-	2	0	NAP1L3	92814889	0.994000	0.37717	0.985000	0.45067	0.903000	0.53119	0.861000	0.27885	0.377000	0.24735	0.529000	0.55759	AGC		0.542	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		23	67	0	0	0	1	0	23	67					T	92928233	C	T	92928233	3	4	459	1	0	0	0	0	1	0	0	0	10158	797	28	2	1453	2	NAP1L3	23	92928233	Missense_Mutation	SNP	C	TCGA-IM-A3U3-01A-11D-A22D-08	45897651	92928233	62342327	34	9415											
TBC1D8B	54885	broad.mit.edu	37	chrX	106108793	106108793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttaatctttttaaagttgcGtgttgtatcacaagatgtga	8	4	2	2			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chrX:106108793G>A	ENST00000357242.5	+	15	2531	c.2357G>A	c.(2356-2358)cGt>cAt	p.R786H	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.R780H	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	786							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTAAAGTTGCGTGTTGTATCA	0.303																																						ENST00000357242.5																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2356-2358)cGt>cAt		TBC1 domain family, member 8B (with GRAM domain)							90	82	85					X																	106108793		2201	4288	6489	SO:0001583	missense	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106108793G>A	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"EF-hand domain containing"	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.2357G>A	X.37:g.106108793G>A	ENSP00000349781:p.Arg786His					TBC1D8B_ENST00000276175.3_Missense_Mutation_p.R780H	p.R786H	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN			15	2531	+			786					B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	c.2357G>A	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775814	0.90195	.	.	ENSG00000133138	ENST00000357242;ENST00000276175;ENST00000394972	T;T	0.33654	1.4;1.4	5.49	5.49	0.81192	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.64713	0.2623	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.70502	-0.4854	10	0.87932	D	0	-11.5945	16.8041	0.85621	0.0:0.0:1.0:0.0	.	786	Q0IIM8	TBC8B_HUMAN	H	786;780;48	ENSP00000349781:R786H;ENSP00000276175:R780H	ENSP00000276175:R780H	R	+	2	0	TBC1D8B	105995449	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.920000	0.75799	2.279000	0.76181	0.506000	0.49869	CGT		0.303	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		6	65	0	0	0	1	0	6	65					A	106108793	G	A	106108793	3	1	459	1	0	0	0	0	1	0	0	0	15623	1145	40	1	2481	1	TBC1D8B	23	106108793	Missense_Mutation	SNP	G	TCGA-IM-A3U3-01A-11D-A22D-08	13180560	106108793	49161767	35	9416											
CUL4B	8450	broad.mit.edu	37	chrX	119694117	119694119	+	In_Frame_Del	DEL	GAG	GAG	-													ttgcagcagttggtgaagatGaggaggaggaggaggaggat							TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chrX:119694117_119694119delGAG	ENST00000404115.3	-	3	830_832	c.429_431delCTC	c.(427-432)tcctca>tca	p.143_144SS>S	CUL4B_ENST00000371322.5_In_Frame_Del_p.125_126SS>S|CUL4B_ENST00000336592.6_In_Frame_Del_p.130_131SS>S	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	143	Ser-rich.				cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGTGAAGATgaggaggaggagg	0.488																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(373-378)tca>tc		cullin 4B			,	18,3703		0,6,12,1586,525					,	-9.6	0.5			58	72,6412		1,19,51,2337,1719	no	coding,coding	CUL4B	NM_003588.3,NM_001079872.1	,	1,25,63,3923,2244	A1A1,A1R,A1,RR,R		1.1104,0.4837,0.8819	,	,		90,10115				SO:0001651	inframe_deletion	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119694117_119694119delGAG	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.429_431delCTC	X.37:g.119694126_119694128delGAG	ENSP00000384109:p.Ser146del					CUL4B_ENST00000336592.6_In_Frame_Del_p.SS132del|CUL4B_ENST00000404115.3_In_Frame_Del_p.SS145del	p.SS127del	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			1	436_438	-			145			Ser-rich.		B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	In_Frame_Del	DEL	ENST00000404115.3	37	c.375_377delCTC	CCDS35379.1																																																																																				0.488	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		7	84						7	84	---	---	---	---	-	119694119	GAG	-	119694117	7	5	459	1	0	1	0	1	0	0	0	0	4058	1294	45	0	2390	0	CUL4B	23	119694117	In_Frame_Del	DEL	GAG	TCGA-IM-A3U3-01A-11D-A22D-08	13585324	119694117	35576443	36	9417											
ABCD1	215	broad.mit.edu	37	chrX	152991293	152991293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacatggacgggcggcttcGcaaccctgaccagtctctga	11	14	1	2			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chrX:152991293G>A	ENST00000218104.3	+	1	971	c.572G>A	c.(571-573)cGc>cAc	p.R191H	BCAP31_ENST00000345046.6_5'Flank|BCAP31_ENST00000458587.2_5'Flank|BCAP31_ENST00000441714.1_5'Flank|ABCD1_ENST00000370129.4_Missense_Mutation_p.R6H	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	191	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGCGGCTTCGCAACCCTGAC	0.647																																						ENST00000218104.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18						c.(571-573)cGc>cAc		ATP-binding cassette, sub-family D (ALD), member 1							84	75	78					X																	152991293		2203	4299	6502	SO:0001583	missense	215				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity	g.chrX:152991293G>A	Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"ATP binding cassette transporters / subfamily D"	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.572G>A	X.37:g.152991293G>A	ENSP00000218104:p.Arg191His					ABCD1_ENST00000370129.4_Missense_Mutation_p.R6H	p.R191H	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN			1	971	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		191			ABC transmembrane type-1.		Q6GTZ2	Missense_Mutation	SNP	ENST00000218104.3	37	c.572G>A	CCDS14728.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963211	0.74016	.	.	ENSG00000101986	ENST00000218104;ENST00000370129	D;D	0.99619	-6.28;-6.28	5.37	5.37	0.77165	ABC transporter, N-terminal (1);ABC transporter, integral membrane type 1 (1);	0.205236	0.43416	D	0.000563	D	0.98994	0.9657	L	0.29908	0.895	0.35957	D	0.834337	D	0.61697	0.99	P	0.56648	0.803	D	0.99968	1.1909	10	0.56958	D	0.05	-27.7204	16.8847	0.86072	0.0:0.0:1.0:0.0	.	191	P33897	ABCD1_HUMAN	H	191;6	ENSP00000218104:R191H;ENSP00000359147:R6H	ENSP00000218104:R191H	R	+	2	0	ABCD1	152644487	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	3.926000	0.56491	2.247000	0.74100	0.529000	0.55759	CGC		0.647	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033		15	103	0	0	0	1	0	15	103					A	152991293	G	A	152991293	3	1	459	1	0	0	0	0	1	0	0	0	60	1087	38	1	574	1	ABCD1	23	152991293	Missense_Mutation	SNP	G	TCGA-IM-A3U3-01A-11D-A22D-08	33297176	152991293	2279267	37	9418											
RENBP	5973	broad.mit.edu	37	chrX	153207421	153207421	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acctgggttctgctgtctccCcaggcagccaggaagttcct	11	14	2	0			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chrX:153207421C>G	ENST00000393700.3	-	7	831	c.751G>C	c.(751-753)Ggg>Cgg	p.G251R	RENBP_ENST00000369997.3_Missense_Mutation_p.G237R|RENBP_ENST00000412763.1_Intron|RENBP_ENST00000462086.1_5'Flank	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	251					N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	TGCTGTCTCCCCAGGCAGCCA	0.627																																						ENST00000393700.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(751-753)Ggg>Cgg		renin binding protein	N-Acetyl-D-glucosamine(DB00141)						95	85	89					X																	153207421		2203	4300	6503	SO:0001583	missense	5973				mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity	g.chrX:153207421C>G		CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032			9959	protein-coding gene	gene with protein product	"N-acylglucosamine 2-epimerase", "GlcNAc 2-epimerase", "N-acetyl-D-glucosamine 2-epimerase"	312420	"renin-binding protein"			1618798	Standard	NM_002910		Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.751G>C	X.37:g.153207421C>G	ENSP00000377303:p.Gly251Arg					RENBP_ENST00000369997.3_Missense_Mutation_p.G237R|RENBP_ENST00000412763.1_Intron	p.G251R	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN			7	831	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		251					B4DNZ3|Q96BI6	Missense_Mutation	SNP	ENST00000393700.3	37	c.751G>C	CCDS14738.2	.	.	.	.	.	.	.	.	.	.	c	22.0	4.235688	0.79800	.	.	ENSG00000102032	ENST00000393700;ENST00000369997	T;T	0.35421	1.31;1.31	4.92	4.92	0.64577	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	T	0.69006	0.3063	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78635	-0.2127	10	0.87932	D	0	-29.8075	15.9723	0.80031	0.0:1.0:0.0:0.0	.	251	P51606	RENBP_HUMAN	R	251;237	ENSP00000377303:G251R;ENSP00000359014:G237R	ENSP00000359014:G237R	G	-	1	0	RENBP	152860615	1.000000	0.71417	0.936000	0.37596	0.592000	0.36648	4.865000	0.62998	2.018000	0.59344	0.429000	0.28392	GGG		0.627	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3	NM_002910		56	195	0	0	0	1	0	56	195					G	153207421	C	G	153207421	3	3	459	1	0	0	0	0	1	0	0	0	13225	623	22	4	552	4	RENBP	23	153207421	Missense_Mutation	SNP	C	TCGA-IM-A3U3-01A-11D-A22D-08	216128	153207421	2063139	38	9419											
C1orf213	80818	broad.mit.edu	37	chr1	23695869	23695869	+	5'UTR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagacttacctcctgtcccGcaaaagatccactagatcgt	6	14	0	3			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr1:23695869G>A	ENST00000314011.4	-	0	66				C1orf213_ENST00000458053.1_Intron|ZNF436_ENST00000374608.3_5'Flank|C1orf213_ENST00000437367.2_Missense_Mutation_p.A27T|Y_RNA_ENST00000364535.1_RNA|C1orf213_ENST00000454117.1_Missense_Mutation_p.A27T|C1orf213_ENST00000335648.3_Missense_Mutation_p.A27T|C1orf213_ENST00000518821.1_Intron	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CTCCTGTCCCGCAAAAGATCC	0.572																																						ENST00000335648.3																			0				kidney(1)	1						c.(79-81)Gca>Aca									43	48	47					1																	23695869		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0							g.chr1:23695869G>A	AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"Zinc fingers, C2H2-type", "-"	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232	ENST00000314011.4:c.-71C>T	1.37:g.23695869G>A						ZNF436_ENST00000314011.4_5'UTR|C1orf213_ENST00000458053.1_Intron|C1orf213_ENST00000518821.1_Intron|C1orf213_ENST00000454117.1_Missense_Mutation_p.A27T|C1orf213_ENST00000437367.2_Missense_Mutation_p.A27T	p.A27T						UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.97e-26)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;5.23e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)	1	141	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)						Q658I9	Missense_Mutation	SNP	ENST00000314011.4	37	c.79G>A	CCDS233.1	.	.	.	.	.	.	.	.	.	.	G	5.677	0.309555	0.10733	.	.	ENSG00000249087	ENST00000454117;ENST00000335648;ENST00000437367	.	.	.	3.76	-0.938	0.10412	.	.	.	.	.	T	0.13970	0.0338	.	.	.	0.09310	N	1	P;B	0.36974	0.576;0.422	B;B	0.22753	0.041;0.041	T	0.18967	-1.0320	7	0.87932	D	0	.	1.2032	0.01889	0.1395:0.1735:0.3317:0.3553	.	27;27	Q8NC38;E5RFN3	CA213_HUMAN;.	T	27	.	ENSP00000441287:A27T	A	+	1	0	C1orf213	23568456	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-0.210000	0.09345	-0.160000	0.11002	-0.238000	0.12139	GCA		0.572	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008908.1	NM_030634		4	58	0	0	0	1	0	4	58					A	23695869	G	A	23695869	1	1	460	0	1	0	0	0	0	0	0	0	2030	1087	38	1		1	C1orf213	1	23695869	5'UTR	SNP	G	TCGA-IM-A41Y-01A-11D-A23U-08		23695869	225554752	1	9420											
CATSPER4	378807	broad.mit.edu	37	chr1	26527933	26527933	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cgtcgacgagcgggtcgttgGagactacgtcatccaaggac	14	11	1	1			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr1:26527933G>C	ENST00000456354.2	+	9	1355	c.1288G>C	c.(1288-1290)Gag>Cag	p.E430Q		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	430					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CGGGTCGTTGGAGACTACGTC	0.577																																						ENST00000456354.2																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27						c.(1288-1290)Gag>Cag		cation channel, sperm associated 4							112	99	103					1																	26527933		2203	4300	6503	SO:0001583	missense	378807				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr1:26527933G>C	BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"Voltage-gated ion channels / Cation channels, sperm associated"	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.1288G>C	1.37:g.26527933G>C	ENSP00000390423:p.Glu430Gln						p.E430Q	NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)	9	1355	+		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)	430					A1A4W6|Q5VY71	Missense_Mutation	SNP	ENST00000456354.2	37	c.1288G>C	CCDS30645.1	.	.	.	.	.	.	.	.	.	.	g	12.51	1.960596	0.34565	.	.	ENSG00000188782	ENST00000338855;ENST00000456354	D;D	0.97598	-4.45;-4.4	5.09	3.17	0.36434	.	1.321840	0.05180	N	0.501187	D	0.94611	0.8263	L	0.44542	1.39	0.09310	N	1	B	0.21381	0.055	B	0.18263	0.021	D	0.85997	0.1492	10	0.48119	T	0.1	-0.7072	6.6304	0.22853	0.0995:0.1904:0.7101:0.0	.	430	Q7RTX7	CTSR4_HUMAN	Q	430	ENSP00000341006:E430Q;ENSP00000390423:E430Q	ENSP00000341006:E430Q	E	+	1	0	CATSPER4	26400520	0.040000	0.19996	0.000000	0.03702	0.193000	0.23685	2.873000	0.48475	0.531000	0.28639	0.306000	0.20318	GAG		0.577	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	NM_198137		8	97	0	0	0	1	0	8	97					C	26527933	G	C	26527933	3	2	460	1	0	0	0	0	1	0	0	0	2690	1175	41	4	1322	4	CATSPER4	1	26527933	Missense_Mutation	SNP	G	TCGA-IM-A41Y-01A-11D-A23U-08	2832064	26527933	222722688	2	9421											
TSGA10	80705	broad.mit.edu	37	chr2	99697773	99697773	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcatccaagcacataattttCtcctgagtaagctgtagctc	6	11	2	1			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr2:99697773C>G	ENST00000393483.3	-	11	1543	c.699G>C	c.(697-699)gaG>gaC	p.E233D	TSGA10_ENST00000539964.1_Missense_Mutation_p.E233D|TSGA10_ENST00000355053.4_Missense_Mutation_p.E233D|TSGA10_ENST00000542655.1_Missense_Mutation_p.E233D|TSGA10_ENST00000410001.1_Missense_Mutation_p.E233D|TSGA10_ENST00000478090.1_5'UTR	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	233					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						ACATAATTTTCTCCTGAGTAA	0.299																																						ENST00000393483.3																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						c.(697-699)gaG>gaC		testis specific, 10							65	68	67					2																	99697773		2201	4293	6494	SO:0001583	missense	80705				spermatogenesis	cytoplasm|nuclear membrane		g.chr2:99697773C>G	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"cancer/testis antigen 79"	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.699G>C	2.37:g.99697773C>G	ENSP00000377123:p.Glu233Asp					TSGA10_ENST00000539964.1_Missense_Mutation_p.E233D|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000542655.1_Missense_Mutation_p.E233D|TSGA10_ENST00000410001.1_Missense_Mutation_p.E233D|TSGA10_ENST00000355053.4_Missense_Mutation_p.E233D	p.E233D	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN			11	1543	-			233					B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	ENST00000393483.3	37	c.699G>C	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.844043	0.51164	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482;ENST00000542655	T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69	5.0	5.0	0.66597	.	0.000000	0.56097	D	0.000037	T	0.42086	0.1187	L	0.41824	1.3	0.35104	D	0.765549	P;P	0.44139	0.827;0.728	B;B	0.43386	0.418;0.206	T	0.49790	-0.8902	10	0.26408	T	0.33	-13.9246	13.9813	0.64306	0.0:1.0:0.0:0.0	.	233;233	B7Z925;Q9BZW7	.;TSG10_HUMAN	D	233	ENSP00000377123:E233D;ENSP00000386956:E233D;ENSP00000347161:E233D;ENSP00000444419:E233D;ENSP00000386508:E233D;ENSP00000377122:E233D;ENSP00000445623:E233D	ENSP00000347161:E233D	E	-	3	2	TSGA10	99064205	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.094000	0.41719	2.753000	0.94483	0.585000	0.79938	GAG		0.299	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911		25	38	0	0	0	1	0	25	38					G	99697773	C	G	99697773	3	3	460	1	0	0	0	0	1	0	0	0	16614	912	32	4	1441	4	TSGA10	2	99697773	Missense_Mutation	SNP	C	TCGA-IM-A41Y-01A-11D-A23U-08		99697773	143501600	3	9422											
ALPPL2	251	broad.mit.edu	37	chr2	233272321	233272321	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacatacagtgtagacaaGcatgtgccagacagtggagc	12	9	0	3			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr2:233272321G>A	ENST00000295453.3	+	4	370	c.318G>A	c.(316-318)aaG>aaA	p.K106K		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	106					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	GTGTAGACAAGCATGTGCCAG	0.567																																						ENST00000295453.3																			0				breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13						c.(316-318)aaG>aaA		alkaline phosphatase, placental-like 2	Amifostine(DB01143)|Levamisole(DB00848)						66	56	59					2																	233272321		2203	4300	6503	SO:0001819	synonymous_variant	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233272321G>A	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.318G>A	2.37:g.233272321G>A							p.K106K	NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	4	370	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	106					A8KAF2|Q16727|Q53S81|Q96CM1	Silent	SNP	ENST00000295453.3	37	c.318G>A	CCDS2491.1																																																																																				0.567	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		4	51	0	0	0	1	0	4	51					A	233272321	G	A	233272321	2	1	460	1	0	0	0	0	0	0	0	1	549	962	34	2		2	ALPPL2	2	233272321	Silent	SNP	G	TCGA-IM-A41Y-01A-11D-A23U-08	133574548	233272321	9927052	4	9423											
PDE12	201626	broad.mit.edu	37	chr3	57542553	57542553	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	caagacggcgcggtgctgcaGatcggcgatgttaagtacaa	14	9	0	2	rs373475581		TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr3:57542553G>C	ENST00000311180.8	+	1	550	c.447G>C	c.(445-447)caG>caC	p.Q149H	PDE12_ENST00000487257.1_Missense_Mutation_p.Q149H	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	149					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		CGGTGCTGCAGATCGGCGATG	0.622																																					Colon(125;308 1634 19198 50622 50717)	ENST00000311180.8																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(445-447)caG>caC		phosphodiesterase 12							42	43	43					3																	57542553		2203	4300	6503	SO:0001583	missense	201626						hydrolase activity	g.chr3:57542553G>C	AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"2'-phosphodiesterase"					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.447G>C	3.37:g.57542553G>C	ENSP00000309142:p.Gln149His					PDE12_ENST00000487257.1_Missense_Mutation_p.Q149H	p.Q149H	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)	1	550	+			149					B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Missense_Mutation	SNP	ENST00000311180.8	37	c.447G>C	CCDS33772.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277004	0.59758	.	.	ENSG00000174840	ENST00000487257;ENST00000311180	T;T	0.25414	1.8;1.85	5.61	4.72	0.59763	.	0.101834	0.64402	D	0.000002	T	0.46502	0.1396	M	0.65498	2.005	0.80722	D	1	D;P	0.69078	0.997;0.78	D;P	0.65987	0.94;0.563	T	0.34279	-0.9835	10	0.46703	T	0.11	-21.0201	14.4485	0.67370	0.0726:0.0:0.9274:0.0	.	149;149	Q6L8Q7;F6T1Q0	PDE12_HUMAN;.	H	149	ENSP00000420626:Q149H;ENSP00000309142:Q149H	ENSP00000309142:Q149H	Q	+	3	2	PDE12	57517593	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	1.900000	0.39828	2.636000	0.89361	0.455000	0.32223	CAG		0.622	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351440.2	NM_177966		4	54	0	0	0	1	0	4	54					C	57542553	G	C	57542553	3	2	460	1	0	0	0	0	1	0	0	0	11632	933	33	4	449	4	PDE12	3	57542553	Missense_Mutation	SNP	G	TCGA-IM-A41Y-01A-11D-A23U-08		57542553	140479877	5	9424											
ZDHHC23	254887	broad.mit.edu	37	chr3	113673157	113673157	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gaagccccaccaaagcgaagGaggactggtgtgccaagtgc	14	11	0	0			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr3:113673157G>C	ENST00000330212.3	+	3	1071	c.772G>C	c.(772-774)Gag>Cag	p.E258Q	ZDHHC23_ENST00000498275.1_Missense_Mutation_p.E252Q	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	258					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						CAAAGCGAAGGAGGACTGGTG	0.582																																						ENST00000330212.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						c.(772-774)Gag>Cag		zinc finger, DHHC-type containing 23							56	54	55					3																	113673157		2203	4300	6503	SO:0001583	missense	254887					integral to membrane	acyltransferase activity|zinc ion binding	g.chr3:113673157G>C	AK127025	CCDS33827.1	3q13.31	2008-05-02			ENSG00000184307	ENSG00000184307		"Zinc fingers, DHHC-type"	28654	protein-coding gene	gene with protein product						12477932	Standard	NM_173570		Approved	MGC42530	uc003eau.3	Q8IYP9	OTTHUMG00000159335	ENST00000330212.3:c.772G>C	3.37:g.113673157G>C	ENSP00000330485:p.Glu258Gln					ZDHHC23_ENST00000498275.1_Missense_Mutation_p.E252Q	p.E258Q	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN			3	1071	+			258					D3DN76	Missense_Mutation	SNP	ENST00000330212.3	37	c.772G>C	CCDS33827.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.176552	0.38413	.	.	ENSG00000184307	ENST00000330212;ENST00000498275	T;T	0.25250	1.81;1.81	5.74	5.74	0.90152	.	0.202304	0.52532	D	0.000068	T	0.14830	0.0358	N	0.17764	0.52	0.24208	N	0.995488	P	0.36392	0.551	B	0.36567	0.228	T	0.21759	-1.0236	10	0.15952	T	0.53	-12.2923	8.4204	0.32696	0.1647:0.0:0.8353:0.0	.	258	Q8IYP9	ZDH23_HUMAN	Q	258;252	ENSP00000330485:E258Q;ENSP00000417840:E252Q	ENSP00000330485:E258Q	E	+	1	0	ZDHHC23	115155847	1.000000	0.71417	1.000000	0.80357	0.601000	0.36947	4.242000	0.58714	2.716000	0.92895	0.561000	0.74099	GAG		0.582	ZDHHC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354702.1	NM_173570		10	38	0	0	0	1	0	10	38					C	113673157	G	C	113673157	3	2	460	1	0	0	0	0	1	0	0	0	17611	1175	41	4	778	4	ZDHHC23	3	113673157	Missense_Mutation	SNP	G	TCGA-IM-A41Y-01A-11D-A23U-08	56130604	113673157	84349273	6	9425											
LRCH3	84859	broad.mit.edu	37	chr3	197598202	197598202	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttttgttctttcagcatattGagtaccggttgaaagtgtct	9	6	3	2			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr3:197598202G>C	ENST00000425562.2	+	19	1999	c.1999G>C	c.(1999-2001)Gag>Cag	p.E667Q	LRCH3_ENST00000334859.4_Missense_Mutation_p.E667Q|LRCH3_ENST00000414675.2_Missense_Mutation_p.E615Q|LRCH3_ENST00000536618.1_Missense_Mutation_p.E262Q|LRCH3_ENST00000438796.2_Missense_Mutation_p.E667Q|LRCH3_ENST00000441090.2_Missense_Mutation_p.E513Q			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	667	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		TCAGCATATTGAGTACCGGTT	0.373																																						ENST00000438796.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1999-2001)Gag>Cag		leucine-rich repeats and calponin homology (CH) domain containing 3							192	184	187					3																	197598202		2203	4300	6503	SO:0001583	missense	84859					extracellular region		g.chr3:197598202G>C	AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.1999G>C	3.37:g.197598202G>C	ENSP00000393579:p.Glu667Gln					LRCH3_ENST00000425562.2_Missense_Mutation_p.E667Q|LRCH3_ENST00000334859.4_Missense_Mutation_p.E667Q|LRCH3_ENST00000536618.1_Missense_Mutation_p.E262Q|LRCH3_ENST00000414675.2_Missense_Mutation_p.E615Q|LRCH3_ENST00000441090.2_Missense_Mutation_p.E513Q	p.E667Q			Q96II8	LRCH3_HUMAN	Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)	19	2043	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		667			CH.		B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	ENST00000425562.2	37	c.1999G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.164809|5.164809	0.94727|0.94727	.|.	.|.	ENSG00000186001|ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562;ENST00000536618;ENST00000452660;ENST00000433298|ENST00000428136	D;D;D;T;D;D;D;D|.	0.95272|.	-3.66;-3.66;-3.66;0.47;-3.66;-3.66;-3.66;-3.66|.	5.79|5.79	5.79|5.79	0.91817|0.91817	Calponin homology domain (5);|.	0.063428|.	0.64402|.	D|.	0.000012|.	D|.	0.90335|.	0.6976|.	H|H	0.96691|0.96691	3.865|3.865	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D;D|.	0.89917|.	0.998;0.96;0.999;0.996;1.0|.	D;P;D;D;D|.	0.91635|.	0.986;0.849;0.975;0.967;0.999|.	D|.	0.92851|.	0.6297|.	10|.	0.87932|.	D|.	0|.	-9.1877|-9.1877	20.0965|20.0965	0.97849|0.97849	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	513;615;667;667;667|.	E9PD99;B4E0T7;Q96II8-2;Q96II8;Q96II8-3|.	.;.;.;LRCH3_HUMAN;.|.	Q|S	667;513;615;667;667;262;142;104|44	ENSP00000399751:E667Q;ENSP00000394609:E513Q;ENSP00000394965:E615Q;ENSP00000334375:E667Q;ENSP00000393579:E667Q;ENSP00000439083:E262Q;ENSP00000395309:E142Q;ENSP00000400164:E104Q|.	ENSP00000334375:E667Q|.	E|X	+|+	1|2	0|2	LRCH3|LRCH3	199082599|199082599	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.383000|9.383000	0.97214|0.97214	2.752000|2.752000	0.94435|0.94435	0.650000|0.650000	0.86243|0.86243	GAG|TGA		0.373	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773		4	132	0	0	0	1	0	4	132					C	197598202	G	C	197598202	3	2	460	1	0	0	0	0	1	0	0	0	8934	1291	45	4	2073	4	LRCH3	3	197598202	Missense_Mutation	SNP	G	TCGA-IM-A41Y-01A-11D-A23U-08	83925045	197598202	424228	7	9426											
BOD1L	259282	broad.mit.edu	37	chr4	13601009	13601009	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gacgtctgttctggtcctctCaggtgggcaggtgagttagc	15	9	3	1			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr4:13601009C>T	ENST00000040738.5	-	10	7650	c.7515G>A	c.(7513-7515)ctG>ctA	p.L2505L		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2505						nucleus (GO:0005634)	DNA binding (GO:0003677)										CTGGTCCTCTCAGGTGGGCAG	0.532											OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000040738.5																			0											c.(7513-7515)ctG>ctA		biorientation of chromosomes in cell division 1-like 1							66	55	59					4																	13601009		2203	4300	6503	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13601009C>T	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.7515G>A	4.37:g.13601009C>T			OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	688		p.L2505L	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	7650	-			2505					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.7515G>A	CCDS3411.2																																																																																				0.532	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		4	49	0	0	0	1	0	4	49					T	13601009	C	T	13601009	2	4	460	1	0	0	0	0	0	0	0	1	1483	813	29	2		2	BOD1L	4	13601009	Silent	SNP	C	TCGA-IM-A41Y-01A-11D-A23U-08		13601009	177553267	8	9427											
CC2D2A	57545	broad.mit.edu	37	chr4	15559105	15559105	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaagttccagtctatgaccGagaaattatggaaaaggtat	10	6	1	2	rs187003641	byFrequency	TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr4:15559105G>A	ENST00000503292.1	+	22	2984	c.2804G>A	c.(2803-2805)cGa>cAa	p.R935Q	CC2D2A_ENST00000389652.5_Missense_Mutation_p.R886Q|CC2D2A_ENST00000413206.1_Missense_Mutation_p.R935Q|CC2D2A_ENST00000424120.1_Missense_Mutation_p.R935Q	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	935					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GTCTATGACCGAGAAATTATG	0.358													G|||	7	0.00139776	0	0.0101	5008	,	,		17078	0		0	False		,,,				2504	0					ENST00000424120.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(2803-2805)cGa>cAa		coiled-coil and C2 domain containing 2A							37	34	35					4																	15559105		1820	4072	5892	SO:0001583	missense	57545				cell projection organization	cilium|microtubule basal body		g.chr4:15559105G>A	AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"Meckel syndrome, type 6"	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.2804G>A	4.37:g.15559105G>A	ENSP00000421809:p.Arg935Gln					CC2D2A_ENST00000413206.1_Missense_Mutation_p.R935Q|CC2D2A_ENST00000389652.5_Missense_Mutation_p.R886Q|CC2D2A_ENST00000503292.1_Missense_Mutation_p.R935Q	p.R935Q			Q9P2K1	C2D2A_HUMAN			21	3058	+			935					A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	ENST00000503292.1	37	c.2804G>A	CCDS47026.1	4	0.0018315018315018315	0	0.0	4	0.011049723756906077	0	0.0	0	0.0	G	24.2	4.500212	0.85176	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000503292;ENST00000389652	D;D;D;D	0.84873	-1.9;-1.9;-1.9;-1.91	4.8	4.8	0.61643	.	0.148184	0.43416	D	0.000580	D	0.89065	0.6609	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.956	D	0.88669	0.3194	10	0.30854	T	0.27	.	17.8691	0.88806	0.0:0.0:1.0:0.0	.	935;886	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	Q	935;935;886;886;935;886	ENSP00000403465:R935Q;ENSP00000398391:R935Q;ENSP00000421809:R935Q;ENSP00000374303:R886Q	ENSP00000374303:R886Q	R	+	2	0	CC2D2A	15168203	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.747000	0.74872	2.206000	0.71126	0.655000	0.94253	CGA		0.358	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522		7	9	0	0	0	1	0	7	9					A	15559105	G	A	15559105	3	1	460	1	0	0	0	0	1	0	0	0	2728	1058	37	1	3085	1	CC2D2A	4	15559105	Missense_Mutation	SNP	G	TCGA-IM-A41Y-01A-11D-A23U-08	1958096	15559105	175595171	9	9428											
TET2	54790	broad.mit.edu	37	chr4	106156119	106156119	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tctcctgcagaaaataacatCcagggaaccacaaagctagc	7	12	1	1			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr4:106156119C>G	ENST00000540549.1	+	3	1880	c.1020C>G	c.(1018-1020)atC>atG	p.I340M	TET2_ENST00000394764.1_Missense_Mutation_p.I340M|TET2_ENST00000380013.4_Missense_Mutation_p.I340M|TET2_ENST00000513237.1_Missense_Mutation_p.I361M|TET2_ENST00000413648.2_Missense_Mutation_p.I340M|TET2_ENST00000545826.1_Missense_Mutation_p.I340M|TET2_ENST00000305737.2_Missense_Mutation_p.I340M			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	340					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.Q341fs*6(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AAAATAACATCCAGGGAACCA	0.418			"Mis N, F"		MDS																																	ENST00000513237.1				Rec	yes		4	4q24	54790	"Mis N, F"	tet oncogene family member 2			L			MDS		1	Deletion - Frameshift(1)	p.Q341fs*6(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314						c.(1081-1083)atC>atG		tet methylcytosine dioxygenase 2							68	64	65					4																	106156119		2203	4300	6503	SO:0001583	missense	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106156119C>G	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.1020C>G	4.37:g.106156119C>G	ENSP00000442788:p.Ile340Met					TET2_ENST00000413648.2_Missense_Mutation_p.I340M|TET2_ENST00000305737.2_Missense_Mutation_p.I340M|TET2_ENST00000545826.1_Missense_Mutation_p.I340M|TET2_ENST00000540549.1_Missense_Mutation_p.I340M|TET2_ENST00000380013.4_Missense_Mutation_p.I340M|TET2_ENST00000394764.1_Missense_Mutation_p.I340M	p.I361M			Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	1880	+		Myeloproliferative disorder(5;0.0393)	340					B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	c.1083C>G	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	C	4.557	0.103422	0.08731	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110	T;T;T;T;T;T;T	0.04015	3.73;4.39;3.73;4.38;4.39;3.73;3.74	4.98	0.993	0.19825	.	673.818000	0.00166	N	0.000000	T	0.05181	0.0138	L	0.29908	0.895	0.09310	N	1	B;B;B	0.18166	0.004;0.004;0.026	B;B;B	0.16289	0.004;0.004;0.015	T	0.40421	-0.9564	10	0.72032	D	0.01	.	4.4115	0.11436	0.0:0.3932:0.315:0.2918	.	361;340;340	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	M	340;340;340;361;340;340;340;340	ENSP00000306705:I340M;ENSP00000442788:I340M;ENSP00000442867:I340M;ENSP00000425443:I361M;ENSP00000369351:I340M;ENSP00000378245:I340M;ENSP00000391448:I340M	ENSP00000265149:I340M	I	+	3	3	TET2	106375568	0.002000	0.14202	0.000000	0.03702	0.604000	0.37047	-0.123000	0.10611	-0.137000	0.11455	0.655000	0.94253	ATC		0.418	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		4	66	0	0	0	1	0	4	66					G	106156119	C	G	106156119	3	3	460	1	0	0	0	0	1	0	0	0	15767	845	30	4	1022	4	TET2	4	106156119	Missense_Mutation	SNP	C	TCGA-IM-A41Y-01A-11D-A23U-08	90597014	106156119	84998157	10	9429											
TRIP13	9319	broad.mit.edu	37	chr5	911973	911973	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacaggcattccaatgttgtGattctgaccacttctaacat	6	10	2	2			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr5:911973G>A	ENST00000166345.3	+	10	1238	c.882G>A	c.(880-882)gtG>gtA	p.V294V		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	294					double-strand break repair (GO:0006302)|female meiosis I (GO:0007144)|male meiosis I (GO:0007141)|oocyte maturation (GO:0001556)|oogenesis (GO:0048477)|reciprocal meiotic recombination (GO:0007131)|regulation of RNA biosynthetic process (GO:2001141)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			CCAATGTTGTGATTCTGACCA	0.542																																						ENST00000166345.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18						c.(880-882)gtG>gtA		thyroid hormone receptor interactor 13							149	113	125					5																	911973		2203	4300	6503	SO:0001819	synonymous_variant	9319				double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity	g.chr5:911973G>A	L40384	CCDS3858.1	5p15	2010-04-21			ENSG00000071539	ENSG00000071539		"ATPases / AAA-type"	12307	protein-coding gene	gene with protein product	"thyroid receptor interacting protein 13"	604507				7776974	Standard	NM_004237		Approved	16E1BP	uc003jbr.3	Q15645	OTTHUMG00000090349	ENST00000166345.3:c.882G>A	5.37:g.911973G>A							p.V294V	NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)		10	1238	+			294					C9K0T3|D3DTC0|O15324	Silent	SNP	ENST00000166345.3	37	c.882G>A	CCDS3858.1																																																																																				0.542	TRIP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206721.2	NM_004237		5	77	0	0	0	1	0	5	77					A	911973	G	A	911973	2	1	460	1	0	0	0	0	0	0	0	1	16554	1277	45	2		2	TRIP13	5	911973	Silent	SNP	G	TCGA-IM-A41Y-01A-11D-A23U-08		911973	180003287	11	9430											
SLC30A5	64924	broad.mit.edu	37	chr5	68417622	68417622	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcaaggaagctgtcactcAtctgatcacagccattcaca	6	13	6	1	rs144055477		TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr5:68417622A>G	ENST00000396591.3	+	13	2281	c.1671A>G	c.(1669-1671)tcA>tcG	p.S557S	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	557	His-rich loop.				cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		GCTGTCACTCATCTGATCACA	0.517																																						ENST00000396591.3																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1669-1671)tcA>tcG		solute carrier family 30 (zinc transporter), member 5		A		1,4405	2.1+/-5.4	0,1,2202	88	73	78		1671	-9.3	0.4	5	dbSNP_134	78	0,8600		0,0,4300	no	coding-synonymous	SLC30A5	NM_022902.3		0,1,6502	GG,GA,AA		0.0,0.0227,0.0077		557/766	68417622	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64924				cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity	g.chr5:68417622A>G	AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"Solute carriers"	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.1671A>G	5.37:g.68417622A>G						CTC-498J12.3_ENST00000504129.1_RNA	p.S557S	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)	13	2281	+		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)	557			His-rich loop.		B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Silent	SNP	ENST00000396591.3	37	c.1671A>G	CCDS3996.1																																																																																				0.517	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254017.2			11	18	0	0	0	1	0	11	18					G	68417622	A	G	68417622	2	3	460	1	0	0	0	0	0	0	0	1	14558	204	8	3		3	SLC30A5	5	68417622	Silent	SNP	A	TCGA-IM-A41Y-01A-11D-A23U-08	67505649	68417622	112497638	12	9431											
HLA-C	3107	broad.mit.edu	37	chr6	31239819	31239819	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aggcctcccgagagcagcagGaggagggctcggggcgccat	18	12	0	1			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr6:31239819G>T	ENST00000376228.5	-	1	44	c.30C>A	c.(28-30)ctC>ctA	p.L10L	HLA-C_ENST00000383329.3_Silent_p.L10L	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	10			L -> I (in allele Cw*17:02).		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)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						AGAGCAGCAGGAGGAGGGCTC	0.697																																						ENST00000383329.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						c.(28-30)ctC>ctA		major histocompatibility complex, class I, C							18	20	19					6																	31239819		1510	2709	4219	SO:0001819	synonymous_variant	3107				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex		g.chr6:31239819G>T	M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.30C>A	6.37:g.31239819G>T						HLA-C_ENST00000376228.5_Silent_p.L10L	p.L10L			Q9TNN7	1C05_HUMAN			1	44	-			10					O02864|O02958|Q29643|Q9MY30	Silent	SNP	ENST00000376228.5	37	c.30C>A	CCDS34393.1	.	.	.	.	.	.	.	.	.	.	-	6.377	0.437678	0.12104	.	.	ENSG00000204525	ENST00000415537	.	.	.	2.71	-0.366	0.12545	.	.	.	.	.	T	0.26412	0.0645	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.18903	-1.0322	4	.	.	.	.	3.1228	0.06397	0.287:0.229:0.484:0.0	.	.	.	.	T	10	.	.	P	-	1	0	HLA-C	31347798	0.000000	0.05858	0.748000	0.31131	0.007000	0.05969	-0.453000	0.06778	-0.101000	0.12219	-0.680000	0.03767	CCT		0.697	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		8	14	1	0	1.33987e-11	1	1.39898e-11	8	14					T	31239819	G	T	31239819	2	4	460	1	0	0	0	0	0	0	0	1	7197	1161	41	4		4	HLA-C	6	31239819	Silent	SNP	G	TCGA-IM-A41Y-01A-11D-A23U-08		31239819	139875248	13	9432											
MKLN1	4289	broad.mit.edu	37	chr7	131172392	131172392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatgtggatcacacctatGctcaaagaactcagctcttt	7	11	4	2			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr7:131172392G>A	ENST00000352689.6	+	18	2153	c.2113G>A	c.(2113-2115)Gct>Act	p.A705T	MKLN1_ENST00000498778.1_3'UTR|MKLN1_ENST00000421797.2_Missense_Mutation_p.A613T	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	705					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					TCACACCTATGCTCAAAGAAC	0.408																																						ENST00000352689.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(2113-2115)Gct>Act		muskelin 1, intracellular mediator containing kelch motifs							104	96	98					7																	131172392		2203	4300	6503	SO:0001583	missense	4289				signal transduction	cytoplasm	protein binding	g.chr7:131172392G>A	AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.2113G>A	7.37:g.131172392G>A	ENSP00000323527:p.Ala705Thr					MKLN1_ENST00000421797.2_Missense_Mutation_p.A613T|MKLN1_ENST00000498778.1_3'UTR	p.A705T	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN			18	2153	+	Melanoma(18;0.162)		705					A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Missense_Mutation	SNP	ENST00000352689.6	37	c.2113G>A	CCDS34754.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.24|13.24	2.179329|2.179329	0.38511|0.38511	.|.	.|.	ENSG00000128585|ENSG00000128585	ENST00000421797;ENST00000352689|ENST00000388758	T;T|.	0.44083|.	1.93;0.93|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.161396|.	0.56097|.	D|.	0.000037|.	T|T	0.45756|0.45756	0.1358|0.1358	N|N	0.22421|0.22421	0.69|0.69	0.58432|0.58432	D|D	0.999996|0.999996	B;B|B	0.09022|0.06786	0.001;0.002|0.001	B;B|B	0.04013|0.01281	0.001;0.001|0.0	T|T	0.37337|0.37337	-0.9710|-0.9710	10|8	0.11794|0.72032	T|D	0.64|0.01	-12.4554|-12.4554	14.1529|14.1529	0.65398|0.65398	0.0:0.0:0.8503:0.1497|0.0:0.0:0.8503:0.1497	.|.	705;682|176	Q9UL63;B4DG30|F8W7E8	MKLN1_HUMAN;.|.	T|I	613;705|176	ENSP00000398094:A613T;ENSP00000323527:A705T|.	ENSP00000323527:A705T|ENSP00000373410:M176I	A|M	+|+	1|3	0|0	MKLN1|MKLN1	130822932|130822932	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.844000|7.844000	0.86867|0.86867	2.794000|2.794000	0.96219|0.96219	0.655000|0.655000	0.94253|0.94253	GCT|ATG		0.408	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	NM_013255		10	58	0	0	0	1	0	10	58					A	131172392	G	A	131172392	3	1	460	1	0	0	0	0	1	0	0	0	9603	1319	46	2	2216	2	MKLN1	7	131172392	Missense_Mutation	SNP	G	TCGA-IM-A41Y-01A-11D-A23U-08		131172392	27966271	14	9433											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		32	33	0	0	0	1	0	32	33					T	140453136	A	T	140453136	3	4	460	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-IM-A41Y-01A-11D-A23U-08	9280744	140453136	18685527	15	9434											
TEX15	56154	broad.mit.edu	37	chr8	30704985	30704985	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atttttgtcctccttttcatCtatattgctgaaattttcgt	4	8	2	1			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr8:30704985C>G	ENST00000256246.2	-	1	1623	c.1549G>C	c.(1549-1551)Gat>Cat	p.D517H	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	517					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TCCTTTTCATCTATATTGCTG	0.313																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(1549-1551)Gat>Cat		testis expressed 15							87	81	83					8																	30704985		2202	4294	6496	SO:0001583	missense	56154							g.chr8:30704985C>G	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.1549G>C	8.37:g.30704985C>G	ENSP00000256246:p.Asp517His						p.D517H	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	1623	-			517						Missense_Mutation	SNP	ENST00000256246.2	37	c.1549G>C	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.125276	0.37533	.	.	ENSG00000133863	ENST00000256246	T	0.10763	2.84	5.61	3.7	0.42460	.	0.433866	0.21541	N	0.072882	T	0.14313	0.0346	N	0.19112	0.55	0.09310	N	1	D	0.67145	0.996	P	0.61592	0.891	T	0.03576	-1.1023	10	0.87932	D	0	.	8.0609	0.30633	0.1572:0.7606:0.0:0.0822	.	517	Q9BXT5	TEX15_HUMAN	H	517	ENSP00000256246:D517H	ENSP00000256246:D517H	D	-	1	0	TEX15	30824527	0.003000	0.15002	0.019000	0.16419	0.170000	0.22686	0.973000	0.29422	1.516000	0.48900	0.650000	0.86243	GAT		0.313	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			13	30	0	0	0	1	0	13	30					G	30704985	C	G	30704985	3	3	460	1	0	0	0	0	1	0	0	0	15776	913	32	4	6836	4	TEX15	8	30704985	Missense_Mutation	SNP	C	TCGA-IM-A41Y-01A-11D-A23U-08		30704985	115659037	16	9435											
TNC	3371	broad.mit.edu	37	chr9	117803286	117803286	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	catggcgatgatgctgacaaGgtactccacgccaggtatga	12	10	0	3			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr9:117803286G>C	ENST00000350763.4	-	19	5737	c.5326C>G	c.(5326-5328)Ctt>Gtt	p.L1776V	TNC_ENST00000346706.3_Missense_Mutation_p.L1230V|TNC_ENST00000341037.4_Missense_Mutation_p.L1594V|TNC_ENST00000423613.2_Missense_Mutation_p.L1503V|TNC_ENST00000542877.1_Missense_Mutation_p.L1413V|TNC_ENST00000535648.1_Missense_Mutation_p.L1321V|TNC_ENST00000537320.1_Missense_Mutation_p.L1139V|TNC_ENST00000345230.3_Missense_Mutation_p.L1139V|TNC_ENST00000340094.3_Missense_Mutation_p.L1412V	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1776	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.L1776I(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ATGCTGACAAGGTACTCCACG	0.512																																						ENST00000350763.4																			1	Substitution - Missense(1)	p.L1776I(1)	endometrium(1)	NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(5326-5328)Ctt>Gtt		tenascin C							207	169	181					9																	117803286		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117803286G>C		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.5326C>G	9.37:g.117803286G>C	ENSP00000265131:p.Leu1776Val					TNC_ENST00000535648.1_Missense_Mutation_p.L1321V|TNC_ENST00000423613.2_Missense_Mutation_p.L1503V|TNC_ENST00000340094.3_Missense_Mutation_p.L1412V|TNC_ENST00000537320.1_Missense_Mutation_p.L1139V|TNC_ENST00000341037.4_Missense_Mutation_p.L1594V|TNC_ENST00000346706.3_Missense_Mutation_p.L1230V|TNC_ENST00000345230.3_Missense_Mutation_p.L1139V|TNC_ENST00000542877.1_Missense_Mutation_p.L1413V	p.L1776V	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			19	5737	-			1776			Fibronectin type-III 13.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.5326C>G	CCDS6811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.128|8.128	0.782350|0.782350	0.16189|0.16189	.|.	.|.	ENSG00000041982|ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877|ENST00000544972	T;T;T;T;T;T;T;T;T|.	0.55760|.	0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5|.	6.08|6.08	3.22|3.22	0.36961|0.36961	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.743029|.	0.13205|.	N|.	0.405628|.	T|T	0.26882|0.26882	0.0658|0.0658	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B;B|.	0.28760|.	0.221;0.011|.	B;B|.	0.35727|.	0.209;0.035|.	T|T	0.20706|0.20706	-1.0267|-1.0267	10|5	0.32370|.	T|.	0.25|.	.|.	6.3711|6.3711	0.21481|0.21481	0.1436:0.0:0.4392:0.4173|0.1436:0.0:0.4392:0.4173	.|.	1503;1776|.	E9PC84;P24821|.	.;TENA_HUMAN|.	V|R	1412;1321;1230;1139;1776;1594;1503;1139;1413|338	ENSP00000344400:L1412V;ENSP00000438152:L1321V;ENSP00000344555:L1230V;ENSP00000345861:L1139V;ENSP00000265131:L1776V;ENSP00000339553:L1594V;ENSP00000411406:L1503V;ENSP00000443478:L1139V;ENSP00000442242:L1413V|.	ENSP00000344400:L1412V|.	L|P	-|-	1|2	0|0	TNC|TNC	116843107|116843107	0.957000|0.957000	0.32711|0.32711	0.498000|0.498000	0.27564|0.27564	0.355000|0.355000	0.29361|0.29361	1.422000|1.422000	0.34826|0.34826	0.419000|0.419000	0.25927|0.25927	-0.140000|-0.140000	0.14226|0.14226	CTT|CCT		0.512	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		7	57	0	0	0	1	0	7	57					C	117803286	G	C	117803286	3	2	460	1	0	0	0	0	1	0	0	0	16267	1000	35	4	1319	4	TNC	9	117803286	Missense_Mutation	SNP	G	TCGA-IM-A41Y-01A-11D-A23U-08		117803286	23410145	17	9436											
ZBTB43	23099	broad.mit.edu	37	chr9	129595683	129595683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acatcggggagaagaaagtgGaagctgagtttgatgaacag	15	4	0	5			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr9:129595683G>A	ENST00000373464.4	+	3	1159	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	ZBTB43_ENST00000449886.1_Missense_Mutation_p.E299K|ZBTB43_ENST00000373457.1_Missense_Mutation_p.E299K	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	299					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(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GAAGAAAGTGGAAGCTGAGTT	0.522																																						ENST00000373464.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(895-897)Gaa>Aaa		zinc finger and BTB domain containing 43							66	66	66					9																	129595683		2203	4300	6503	SO:0001583	missense	23099				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:129595683G>A	AF049907	CCDS6867.1	9q33.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000169155	ENSG00000169155		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	17908	protein-coding gene	gene with protein product			"zinc finger protein 297B"	ZNF297B			Standard	NM_014007		Approved	KIAA0414, ZNF-X, FLJ22470, ZBTB22B	uc010mxf.3	O43298	OTTHUMG00000020693	ENST00000373464.4:c.895G>A	9.37:g.129595683G>A	ENSP00000362563:p.Glu299Lys					ZBTB43_ENST00000449886.1_Missense_Mutation_p.E299K|ZBTB43_ENST00000373457.1_Missense_Mutation_p.E299K	p.E299K	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN			3	1159	+			299					Q5JU96	Missense_Mutation	SNP	ENST00000373464.4	37	c.895G>A	CCDS6867.1	.	.	.	.	.	.	.	.	.	.	G	1.678	-0.507233	0.04231	.	.	ENSG00000169155	ENST00000449886;ENST00000373464;ENST00000373457	T;T;T	0.11385	2.78;2.78;2.78	5.51	5.51	0.81932	.	0.127772	0.51477	D	0.000098	T	0.08626	0.0214	N	0.24115	0.695	0.37433	D	0.91412	B	0.20261	0.043	B	0.24006	0.05	T	0.29488	-1.0010	10	0.13853	T	0.58	.	15.284	0.73814	0.0:0.1397:0.8603:0.0	.	299	O43298	ZBT43_HUMAN	K	299	ENSP00000390344:E299K;ENSP00000362563:E299K;ENSP00000362556:E299K	ENSP00000362556:E299K	E	+	1	0	ZBTB43	128635504	1.000000	0.71417	0.998000	0.56505	0.294000	0.27393	6.640000	0.74319	2.748000	0.94277	0.462000	0.41574	GAA		0.522	ZBTB43-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054124.1	NM_001135776		15	23	0	0	0	1	0	15	23					A	129595683	G	A	129595683	3	1	460	1	0	0	0	0	1	0	0	0	17541	1175	41	2	897	2	ZBTB43	9	129595683	Missense_Mutation	SNP	G	TCGA-IM-A41Y-01A-11D-A23U-08	11792397	129595683	11617748	18	9437											
WDR34	89891	broad.mit.edu	37	chr9	131397371	131397371	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttccgggtgcccacgtacCttcttgagcttggtgctccg	12	13	1	1			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr9:131397371C>T	ENST00000372715.2	-	6	1041	c.981G>A	c.(979-981)aaG>aaA	p.K327K	WDR34_ENST00000483181.1_5'UTR	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	327						axoneme (GO:0005930)|centriole (GO:0005814)|ciliary basal body (GO:0036064)				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						GCCCACGTACCTTCTTGAGCT	0.647											OREG0019522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372715.2																			0				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						c.e6+1		WD repeat domain 34							60	56	58					9																	131397371		2203	4300	6503	SO:0001630	splice_region_variant	89891					cytoplasm		g.chr9:131397371C>T	BC011874	CCDS6906.2	9q34.11	2013-11-15	2013-02-19	2013-02-19	ENSG00000119333	ENSG00000119333		"WD repeat domain containing"	28296	protein-coding gene	gene with protein product		613363				19521662, 21953912, 24183451	Standard	NM_052844		Approved	DIC5, MGC20486, bA216B9.3, FAP133	uc004bvq.1	Q96EX3	OTTHUMG00000020750	ENST00000372715.2:c.981+1G>A	9.37:g.131397371C>T			OREG0019522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1587	WDR34_ENST00000483181.1_5'UTR	p.K327_splice	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN			6	1041	-			327					Q5VXV4|Q9BV46	Splice_Site	SNP	ENST00000372715.2	37	c.981_splice	CCDS6906.2																																																																																				0.647	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054463.1	NM_052844	Silent	21	55	0	0	0	1	0	21	55					T	131397371	C	T	131397371	5	4	460	1	0	0	0	0	0	0	1	0	17285	695	24	2	645	2	WDR34	9	131397371	Splice_Site	SNP	C	TCGA-IM-A41Y-01A-11D-A23U-08	1801688	131397371	9816060	19	9438											
MRPL41	64975	broad.mit.edu	37	chr9	140446549	140446549	+	Missense_Mutation	SNP	G	G	T													gcggcatgggcgtcctggccGcagcggcgcgctgcctggtc							TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr9:140446549G>T	ENST00000371443.5	+	2	804	c.16G>T	c.(16-18)Gca>Tca	p.A6S	DPH7_ENST00000479650.1_5'Flank|PNPLA7_ENST00000277531.4_5'Flank|PNPLA7_ENST00000406427.1_5'Flank	NM_032477.2	NP_115866.1	Q8IXM3	RM41_HUMAN	mitochondrial ribosomal protein L41	6					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|lung(1)	2	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)		CGTCCTGGCCGCAGCGGCGCG	0.796																																						ENST00000371443.5																			0				breast(1)|lung(1)	2						c.(16-18)Gca>Tca		mitochondrial ribosomal protein L41							7	10	9					9																	140446549		2122	4143	6265	SO:0001583	missense	64975				apoptosis|cell cycle|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr9:140446549G>T	AB051625	CCDS7046.1	9q34.3	2012-09-13			ENSG00000182154	ENSG00000182154		"Mitochondrial ribosomal proteins / large subunits"	14492	protein-coding gene	gene with protein product		611846				11543634	Standard	NM_032477		Approved	MRP-L27, RPML27, BMRP, PIG3, MRPL27	uc004cnh.4	Q8IXM3	OTTHUMG00000020987	ENST00000371443.5:c.16G>T	9.37:g.140446549G>T	ENSP00000360498:p.Ala6Ser						p.A6S	NM_032477.2	NP_115866.1	Q8IXM3	RM41_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)	2	804	+	all_cancers(76;0.106)		6					Q96Q49	Missense_Mutation	SNP	ENST00000371443.5	37	c.16G>T	CCDS7046.1	.	.	.	.	.	.	.	.	.	.	G	4.975	0.181067	0.09443	.	.	ENSG00000182154	ENST00000371443	.	.	.	5.03	3.19	0.36642	.	0.445579	0.22773	U	0.055819	T	0.20333	0.0489	L	0.32530	0.975	0.09310	N	1	B	0.26258	0.145	B	0.23852	0.049	T	0.26087	-1.0113	9	0.07644	T	0.81	.	5.3468	0.16014	0.2454:0.1474:0.6073:0.0	.	6	Q8IXM3	RM41_HUMAN	S	6	.	ENSP00000360498:A6S	A	+	1	0	MRPL41	139566370	0.001000	0.12720	0.003000	0.11579	0.043000	0.13939	1.047000	0.30367	0.544000	0.28883	0.478000	0.44815	GCA		0.796	MRPL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055327.1	NM_032477		9	27	1	0	0.000274275	1	0.000282225	9	27					T	140446549	G	T	140446549	3	4	460	1	0	0	0	0	1	0	0	0	9805	1087	38	4	18	4	MRPL41	9	140446549	Missense_Mutation	SNP	G	TCGA-IM-A41Y-01A-11D-A23U-08	9049178	140446549	766882	20	9439	52	2									
MRPL41	64975	broad.mit.edu	37	chr9	140446550	140446550	+	Missense_Mutation	SNP	C	C	T													cggcatgggcgtcctggccgCagcggcgcgctgcctggtcc							TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr9:140446550C>T	ENST00000371443.5	+	2	805	c.17C>T	c.(16-18)gCa>gTa	p.A6V	DPH7_ENST00000479650.1_5'Flank|PNPLA7_ENST00000277531.4_5'Flank|PNPLA7_ENST00000406427.1_5'Flank	NM_032477.2	NP_115866.1	Q8IXM3	RM41_HUMAN	mitochondrial ribosomal protein L41	6					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|lung(1)	2	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)		GTCCTGGCCGCAGCGGCGCGC	0.796																																						ENST00000371443.5																			0				breast(1)|lung(1)	2						c.(16-18)gCa>gTa		mitochondrial ribosomal protein L41							7	10	9					9																	140446550		2122	4147	6269	SO:0001583	missense	64975				apoptosis|cell cycle|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr9:140446550C>T	AB051625	CCDS7046.1	9q34.3	2012-09-13			ENSG00000182154	ENSG00000182154		"Mitochondrial ribosomal proteins / large subunits"	14492	protein-coding gene	gene with protein product		611846				11543634	Standard	NM_032477		Approved	MRP-L27, RPML27, BMRP, PIG3, MRPL27	uc004cnh.4	Q8IXM3	OTTHUMG00000020987	ENST00000371443.5:c.17C>T	9.37:g.140446550C>T	ENSP00000360498:p.Ala6Val						p.A6V	NM_032477.2	NP_115866.1	Q8IXM3	RM41_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)	2	805	+	all_cancers(76;0.106)		6					Q96Q49	Missense_Mutation	SNP	ENST00000371443.5	37	c.17C>T	CCDS7046.1	.	.	.	.	.	.	.	.	.	.	C	9.797	1.179579	0.21787	.	.	ENSG00000182154	ENST00000371443	.	.	.	5.03	1.56	0.23342	.	0.445579	0.22773	U	0.055819	T	0.27594	0.0678	L	0.32530	0.975	0.09310	N	1	B	0.26002	0.139	B	0.22601	0.04	T	0.13845	-1.0494	9	0.31617	T	0.26	.	8.3079	0.32053	0.3593:0.3205:0.3202:0.0	.	6	Q8IXM3	RM41_HUMAN	V	6	.	ENSP00000360498:A6V	A	+	2	0	MRPL41	139566371	0.000000	0.05858	0.001000	0.08648	0.039000	0.13416	0.249000	0.18216	0.063000	0.16370	0.478000	0.44815	GCA		0.796	MRPL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055327.1	NM_032477		9	29	0	0	0	1	0	9	29					T	140446550	C	T	140446550	3	4	460	1	0	0	0	0	1	0	0	0	9805	710	25	2	19	2	MRPL41	9	140446550	Missense_Mutation	SNP	C	TCGA-IM-A41Y-01A-11D-A23U-08	1	140446550	766881	21	9440	52	2									
OR5M3	219482	broad.mit.edu	37	chr11	56237236	56237236	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agagtaccatagaatataatGacagctgtcagatgggaccc	10	8	1	4			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr11:56237236G>A	ENST00000312240.2	-	1	778	c.738C>T	c.(736-738)gtC>gtT	p.V246V		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AGAATATAATGACAGCTGTCA	0.478																																						ENST00000312240.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(736-738)gtC>gtT		olfactory receptor, family 5, subfamily M, member 3							61	60	60					11																	56237236		2201	4295	6496	SO:0001819	synonymous_variant	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237236G>A	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"GPCR / Class A : Olfactory receptors"	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.738C>T	11.37:g.56237236G>A							p.V246V	NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN			1	778	-	Esophageal squamous(21;0.00448)		246					B2RNM7|Q6IEW4|Q96RC0	Silent	SNP	ENST00000312240.2	37	c.738C>T	CCDS31532.1																																																																																				0.478	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		4	64	0	0	0	1	0	4	64					A	56237236	G	A	56237236	2	1	460	1	0	0	0	0	0	0	0	1	11175	1277	45	2		2	OR5M3	11	56237236	Silent	SNP	G	TCGA-IM-A41Y-01A-11D-A23U-08		56237236	78769280	22	9441											
HTR3A	3359	broad.mit.edu	37	chr11	113856738	113856738	+	Splice_Site	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ttgctttattctctctcagtCcaggacatcaacatctcttt	4	12	4	0			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr11:113856738C>G	ENST00000504030.2	+	6	991	c.546C>G	c.(544-546)atC>atG	p.I182M	HTR3A_ENST00000355556.2_Splice_Site_p.I188M|HTR3A_ENST00000506841.2_Splice_Site_p.I182M|HTR3A_ENST00000375498.2_Splice_Site_p.I188M|HTR3A_ENST00000299961.5_Splice_Site_p.I167M|HTR3A_ENST00000535865.1_Intron			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	182					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	CTCTCTCAGTCCAGGACATCA	0.532																																						ENST00000504030.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.e6-1		5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						191	201	198					11																	113856738		2201	4296	6497	SO:0001630	splice_region_variant	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113856738C>G	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5297	protein-coding gene	gene with protein product		182139	"5-hydroxytryptamine (serotonin) receptor 3A"	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.545-1C>G	11.37:g.113856738C>G						HTR3A_ENST00000506841.2_Splice_Site_p.I182_splice|HTR3A_ENST00000375498.2_Splice_Site_p.I188_splice|HTR3A_ENST00000299961.5_Splice_Site_p.I167_splice|HTR3A_ENST00000355556.2_Splice_Site_p.I188_splice|HTR3A_ENST00000535865.1_Intron	p.I182_splice			P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	6	991	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	182					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Splice_Site	SNP	ENST00000504030.2	37	c.544_splice		.	.	.	.	.	.	.	.	.	.	C	16.60	3.167165	0.57476	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000299961	T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23	4.97	4.04	0.47022	.	0.050975	0.85682	D	0.000000	T	0.81297	0.4793	L	0.58428	1.81	0.80722	D	1	P;P;P	0.52316	0.848;0.952;0.934	P;P;P	0.61003	0.819;0.73;0.882	T	0.81634	-0.0844	10	0.72032	D	0.01	.	6.694	0.23189	0.1495:0.7052:0.0:0.1453	.	167;188;188	B4DSY6;G5E986;Q7KZM7	.;.;.	M	182;188;188;182;167	ENSP00000424189:I182M;ENSP00000347754:I188M;ENSP00000364648:I188M;ENSP00000424776:I182M;ENSP00000299961:I167M	ENSP00000299961:I167M	I	+	3	3	HTR3A	113361948	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.440000	0.35024	2.457000	0.83068	0.655000	0.94253	ATC		0.532	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869	Missense_Mutation	5	344	0	0	0	1	0	5	344					G	113856738	C	G	113856738	5	3	460	1	0	0	0	0	0	0	1	0	7444	869	30	4	612	4	HTR3A	11	113856738	Splice_Site	SNP	C	TCGA-IM-A41Y-01A-11D-A23U-08	57619502	113856738	21149778	23	9442											
TCHP	84260	broad.mit.edu	37	chr12	110350871	110350871	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcgcacgggacagactgatGagcgaggtaatcccagctgc	14	11	0	3			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr12:110350871G>A	ENST00000312777.5	+	10	1342	c.1128G>A	c.(1126-1128)atG>atA	p.M376I	TCHP_ENST00000405876.4_Missense_Mutation_p.M376I	NM_032300.4	NP_115676.1			trichoplein, keratin filament binding											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						ACAGACTGATGAGCGAGGTAA	0.602																																						ENST00000312777.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						c.(1126-1128)atG>atA		trichoplein, keratin filament binding							70	59	63					12																	110350871		2203	4300	6503	SO:0001583	missense	84260				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding	g.chr12:110350871G>A	AK092736	CCDS9137.1	12q24.11	2011-08-25	2006-01-27			ENSG00000139437			28135	protein-coding gene	gene with protein product	"mitostatin"	612654				15731013, 20930847	Standard	NM_032300		Approved	MGC10854, TpMs	uc001tpn.3	Q9BT92		ENST00000312777.5:c.1128G>A	12.37:g.110350871G>A	ENSP00000324404:p.Met376Ile					TCHP_ENST00000405876.4_Missense_Mutation_p.M376I	p.M376I	NM_032300.4	NP_115676.1	Q9BT92	TCHP_HUMAN			10	1342	+			376			Glu-rich.|Interaction with keratin proteins.|Trichohyalin/plectin homology domain.			Missense_Mutation	SNP	ENST00000312777.5	37	c.1128G>A	CCDS9137.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.517235	0.64634	.	.	ENSG00000139437	ENST00000405876;ENST00000312777;ENST00000551627	T;T	0.09630	2.96;2.96	5.09	5.09	0.68999	.	0.087222	0.85682	D	0.000000	T	0.35008	0.0917	M	0.80183	2.485	0.54753	D	0.999985	D	0.89917	1.0	D	0.87578	0.998	T	0.04400	-1.0954	10	0.33940	T	0.23	-20.4665	16.342	0.83084	0.0:0.0:1.0:0.0	.	376	Q9BT92	TCHP_HUMAN	I	376;376;20	ENSP00000384520:M376I;ENSP00000324404:M376I	ENSP00000324404:M376I	M	+	3	0	TCHP	108835254	1.000000	0.71417	0.982000	0.44146	0.082000	0.17680	7.152000	0.77419	2.503000	0.84419	0.650000	0.86243	ATG		0.602	TCHP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403289.1	NM_032300		4	73	0	0	0	1	0	4	73					A	110350871	G	A	110350871	3	1	460	1	0	0	0	0	1	0	0	0	15699	1290	45	2	1162	2	TCHP	12	110350871	Missense_Mutation	SNP	G	TCGA-IM-A41Y-01A-11D-A23U-08		110350871	23501024	24	9443											
DDX54	79039	broad.mit.edu	37	chr12	113603644	113603644	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccagccccacaaggtccatCtccttggccctcttgatgga	8	17	2	1			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr12:113603644C>T	ENST00000306014.5	-	13	1635	c.1608G>A	c.(1606-1608)gaG>gaA	p.E536E	DDX54_ENST00000314045.7_Silent_p.E536E	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	536					ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CAAGGTCCATCTCCTTGGCCC	0.662																																						ENST00000314045.7																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(1606-1608)gaG>gaA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 54							42	41	41					12																	113603644		2203	4300	6503	SO:0001819	synonymous_variant	79039				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity	g.chr12:113603644C>T	AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"DEAD-boxes"	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.1608G>A	12.37:g.113603644C>T						DDX54_ENST00000306014.5_Silent_p.E536E	p.E536E	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN			13	1635	-			536					Q86YT8|Q9BRZ1	Silent	SNP	ENST00000306014.5	37	c.1608G>A	CCDS31907.1	.	.	.	.	.	.	.	.	.	.	C	9.740	1.164679	0.21538	.	.	ENSG00000123064	ENST00000546898	.	.	.	4.55	-2.36	0.06663	.	.	.	.	.	T	0.40619	0.1124	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30268	-0.9984	4	.	.	.	.	2.8642	0.05596	0.0995:0.361:0.1368:0.4027	.	.	.	.	N	12	.	.	D	-	1	0	DDX54	112088027	0.988000	0.35896	0.988000	0.46212	0.914000	0.54420	0.204000	0.17335	-0.316000	0.08690	0.561000	0.74099	GAT		0.662	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072		15	32	0	0	0	1	0	15	32					T	113603644	C	T	113603644	2	4	460	1	0	0	0	0	0	0	0	1	4372	912	32	2		2	DDX54	12	113603644	Silent	SNP	C	TCGA-IM-A41Y-01A-11D-A23U-08	3252773	113603644	20248251	25	9444											
C12orf65	91574	broad.mit.edu	37	chr12	123738272	123738272	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccactgacccgaatatgCccggcgccatggggactccg	11	16	0	1			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr12:123738272C>T	ENST00000253233.1	+	2	695	c.51C>T	c.(49-51)tgC>tgT	p.C17C	RP11-282O18.3_ENST00000543217.2_RNA|RP11-282O18.3_ENST00000541002.3_RNA|C12orf65_ENST00000429587.2_Silent_p.C17C|C12orf65_ENST00000366329.2_Silent_p.C17C	NM_152269.4	NP_689482.1	Q9H3J6	CL065_HUMAN	chromosome 12 open reading frame 65	17					cell death (GO:0008219)	mitochondrion (GO:0005739)	translation release factor activity (GO:0003747)			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000595)|Epithelial(86;0.00199)		CCCGAATATGCCCGGCGCCAT	0.542																																						ENST00000253233.1																			0				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(49-51)tgC>tgT		chromosome 12 open reading frame 65							85	82	83					12																	123738272		2203	4300	6503	SO:0001819	synonymous_variant	91574					mitochondrion	translation release factor activity	g.chr12:123738272C>T	AK095982	CCDS9244.1	12q24.31	2013-01-07			ENSG00000130921	ENSG00000130921			26784	protein-coding gene	gene with protein product		613541				20598281, 22688947, 23188110	Standard	NM_152269		Approved	FLJ38663, SPG55	uc001uen.3	Q9H3J6	OTTHUMG00000168852	ENST00000253233.1:c.51C>T	12.37:g.123738272C>T						RP11-282O18.3_ENST00000541002.3_RNA|C12orf65_ENST00000366329.2_Silent_p.C17C|C12orf65_ENST00000429587.2_Silent_p.C17C	p.C17C	NM_152269.4	NP_689482.1	Q9H3J6	CL065_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000595)|Epithelial(86;0.00199)	2	695	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		17					Q8WUC6	Silent	SNP	ENST00000253233.1	37	c.51C>T	CCDS9244.1																																																																																				0.542	C12orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401375.1	NM_152269		4	103	0	0	0	1	0	4	103					T	123738272	C	T	123738272	2	4	460	1	0	0	0	0	0	0	0	1	1708	747	26	2		2	C12orf65	12	123738272	Silent	SNP	C	TCGA-IM-A41Y-01A-11D-A23U-08	10134628	123738272	10113623	26	9445											
UBC	7316	broad.mit.edu	37	chr12	125397415	125397415	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagatctgcatcccacctctGagacggagcaccaggtgcag	11	13	2	2			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr12:125397415G>A	ENST00000536769.1	-	1	2479	c.903C>T	c.(901-903)ctC>ctT	p.L301L	UBC_ENST00000546120.1_Silent_p.L225L|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000339647.5_Silent_p.L301L|UBC_ENST00000538617.1_Intron|UBC_ENST00000536661.1_5'Flank			P0CG48	UBC_HUMAN	ubiquitin C	301	Ubiquitin-like 4. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|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)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|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)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|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)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TCCCACCTCTGAGACGGAGCA	0.532																																						ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(901-903)ctC>ctT		ubiquitin C							69	61	64					12																	125397415		2202	4284	6486	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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 ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397415G>A		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"polyubiquitin-C"	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.903C>T	12.37:g.125397415G>A						UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Silent_p.L225L|UBC_ENST00000339647.5_Silent_p.L301L	p.L301L			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	2479	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		301			Ubiquitin-like 4.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000536769.1	37	c.903C>T	CCDS9260.1																																																																																				0.532	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		5	144	0	0	0	1	0	5	144					A	125397415	G	A	125397415	2	1	460	1	0	0	0	0	0	0	0	1	16839	1277	45	2		2	UBC	12	125397415	Silent	SNP	G	TCGA-IM-A41Y-01A-11D-A23U-08	1659143	125397415	8454480	27	9446											
MTUS2	23281	broad.mit.edu	37	chr13	29600418	29600418	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cacctcagcaagagcagattCagttctcaatattccagcac	6	13	3	2			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr13:29600418C>T	ENST00000431530.3	+	1	1671	c.1613C>T	c.(1612-1614)tCa>tTa	p.S538L		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	528						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGAGCAGATTCAGTTCTCAAT	0.473																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(1612-1614)tCa>tTa		microtubule associated tumor suppressor candidate 2							94	98	97					13																	29600418		2023	4189	6212	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29600418C>T	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1613C>T	13.37:g.29600418C>T	ENSP00000392057:p.Ser538Leu						p.S538L	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	1671	+			528					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.1613C>T	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	c	14.18	2.458600	0.43634	.	.	ENSG00000132938	ENST00000431530	T	0.13901	2.55	5.07	1.24	0.21308	.	0.685472	0.13331	N	0.395923	T	0.10508	0.0257	L	0.44542	1.39	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.32613	-0.9900	9	.	.	.	.	5.8528	0.18701	0.0:0.4952:0.1301:0.3747	.	528	Q5JR59	MTUS2_HUMAN	L	538	ENSP00000392057:S538L	.	S	+	2	0	MTUS2	28498418	0.004000	0.15560	0.001000	0.08648	0.005000	0.04900	1.953000	0.40352	0.426000	0.26116	-0.136000	0.14681	TCA		0.473	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		5	71	0	0	0	1	0	5	71					T	29600418	C	T	29600418	3	4	460	1	0	0	0	0	1	0	0	0	9966	838	29	2	1615	2	MTUS2	13	29600418	Missense_Mutation	SNP	C	TCGA-IM-A41Y-01A-11D-A23U-08		29600418	85569460	28	9447											
BEGAIN	57596	broad.mit.edu	37	chr14	101004529	101004530	+	Frame_Shift_Ins	INS	-	-	C													caccccgagcctgtccccgtINScccccccctcgctgggtgca							TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr14:101004529_101004530insC	ENST00000355173.2	-	7	1629_1630	c.1558_1559insG	c.(1558-1560)gacfs	p.D520fs	BEGAIN_ENST00000556751.1_Frame_Shift_Ins_p.D456fs|CTD-2062F14.3_ENST00000553301.1_lincRNA|BEGAIN_ENST00000443071.2_Frame_Shift_Ins_p.D520fs	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	520						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				CCTGTCCCCGTCCCCCCCCTCG	0.733																																					NSCLC(159;1889 2010 9965 27479 40101)	ENST00000556751.1																			0				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14						c.(1366-1368)cggfs		brain-enriched guanylate kinase-associated																																				SO:0001589	frameshift_variant	57596					cytoplasm|membrane	protein binding	g.chr14:101004529_101004530insC	BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"brain-enriched guanylate kinase-associated homolog (rat)"			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.1559dupG	14.37:g.101004537_101004537dupC	ENSP00000347301:p.Asp520fs					BEGAIN_ENST00000355173.2_Frame_Shift_Ins_p.R520fs|BEGAIN_ENST00000443071.2_Frame_Shift_Ins_p.R520fs	p.R456fs			Q9BUH8	BEGIN_HUMAN			5	4770_4771	-		Melanoma(154;0.212)	520					Q9NPU3|Q9P282	Frame_Shift_Ins	INS	ENST00000355173.2	37	c.1366_1367insG	CCDS9962.1																																																																																				0.733	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414329.1	NM_020836		3	6						3	6	---	---	---	---	C	101004530	-	C	101004529	7	5	460	1	0	1	1	0	0	0	0	0	1397	1667	58	0	226	0	BEGAIN	14	101004529	Frame_Shift_Ins	INS	-	TCGA-IM-A41Y-01A-11D-A23U-08		101004529	6345011	29	9448											
BBS2	583	broad.mit.edu	37	chr16	56535329	56535329	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcattccccaggctgactgaGagcgtggtgtggagcctggt	15	10	1	2	rs71387119		TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr16:56535329G>C	ENST00000245157.5	-	10	1581	c.1161C>G	c.(1159-1161)ctC>ctG	p.L387L	BBS2_ENST00000568104.1_Silent_p.L387L|BBS2_ENST00000561951.1_5'Flank	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	387					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						GGCTGACTGAGAGCGTGGTGT	0.522									Bardet-Biedl syndrome																													ENST00000245157.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						c.(1159-1161)ctC>ctG		Bardet-Biedl syndrome 2							225	201	209					16																	56535329		2198	4300	6498	SO:0001819	synonymous_variant	583	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding	g.chr16:56535329G>C	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.1161C>G	16.37:g.56535329G>C						BBS2_ENST00000568104.1_Silent_p.L387L	p.L387L	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN			10	1581	-			387					Q96CM0|Q96SN9	Silent	SNP	ENST00000245157.5	37	c.1161C>G	CCDS32451.1																																																																																				0.522	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	NM_031885		5	194	0	0	0	1	0	5	194					C	56535329	G	C	56535329	2	2	460	1	0	0	0	0	0	0	0	1	1338	929	33	4		4	BBS2	16	56535329	Silent	SNP	G	TCGA-IM-A41Y-01A-11D-A23U-08		56535329	33819424	30	9449											
ZNF778	197320	broad.mit.edu	37	chr16	89294617	89294617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacataagaacccacaccGgtgagaaaccctacatatgt	7	12	0	2	rs562846096	byFrequency	TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr16:89294617G>A	ENST00000433976.2	+	6	2169	c.1837G>A	c.(1837-1839)Ggt>Agt	p.G613S	ZNF778_ENST00000306502.6_Missense_Mutation_p.G571S|RP11-46C24.6_ENST00000563182.1_RNA	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	613					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(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		AACCCACACCGGTGAGAAACC	0.463													G|||	2	0.000399361	8e-04	0	5008	,	,		22306	0		0	False		,,,				2504	0.001					ENST00000433976.2																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24						c.(1837-1839)Ggt>Agt		zinc finger protein 778							82	86	84					16																	89294617		2186	4295	6481	SO:0001583	missense	197320				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89294617G>A	AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"Zinc fingers, C2H2-type", "-"	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.1837G>A	16.37:g.89294617G>A	ENSP00000405289:p.Gly613Ser					ZNF778_ENST00000306502.6_Missense_Mutation_p.G571S|RP11-46C24.6_ENST00000563182.1_RNA	p.G613S	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0269)	6	2169	+			613					Q08AG0	Missense_Mutation	SNP	ENST00000433976.2	37	c.1837G>A	CCDS45550.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306539	0.60305	.	.	ENSG00000170100	ENST00000433976;ENST00000306502	T;T	0.25085	1.82;1.82	0.831	0.831	0.18860	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36853	0.0982	L	0.41356	1.27	0.29684	N	0.841444	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.22068	-1.0227	9	0.87932	D	0	.	7.5546	0.27817	0.0:0.0:1.0:0.0	.	571;613	Q96MU6-2;Q96MU6	.;ZN778_HUMAN	S	613;571	ENSP00000405289:G613S;ENSP00000305203:G571S	ENSP00000305203:G571S	G	+	1	0	ZNF778	87822118	0.992000	0.36948	0.010000	0.14722	0.016000	0.09150	3.939000	0.56591	0.745000	0.32763	0.558000	0.71614	GGT		0.463	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430383.1	NM_182531		4	91	0	0	0	1	0	4	91					A	89294617	G	A	89294617	3	1	460	1	0	0	0	0	1	0	0	0	18148	1116	39	1	1855	1	ZNF778	16	89294617	Missense_Mutation	SNP	G	TCGA-IM-A41Y-01A-11D-A23U-08	32759288	89294617	1060136	31	9450											
PSMC5	5705	broad.mit.edu	37	chr17	61907309	61907309	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aagaagaaagtgttggtcaaGgtaaaagcagcatgacccca	11	7	1	3			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr17:61907309G>C	ENST00000310144.6	+	4	572	c.264G>C	c.(262-264)aaG>aaC	p.K88N	PSMC5_ENST00000580864.1_Splice_Site_p.K80N|FTSJ3_ENST00000580295.1_5'UTR|PSMC5_ENST00000581882.1_Splice_Site_p.K80N|FTSJ3_ENST00000427159.2_5'Flank|PSMC5_ENST00000375812.4_Splice_Site_p.K80N	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	88					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						TGTTGGTCAAGGTAAAAGCAG	0.557																																						ENST00000310144.6																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						c.e4+1		proteasome (prosome, macropain) 26S subunit, ATPase, 5							96	89	91					17																	61907309		2203	4300	6503	SO:0001630	splice_region_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.chr17:61907309G>C	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.264+1G>C	17.37:g.61907309G>C						PSMC5_ENST00000581882.1_Splice_Site_p.K80_splice|PSMC5_ENST00000580864.1_Splice_Site_p.K80_splice|FTSJ3_ENST00000580295.1_5'UTR|PSMC5_ENST00000375812.4_Splice_Site_p.K80_splice	p.K88_splice	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN			4	572	+			88					A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Splice_Site	SNP	ENST00000310144.6	37	c.264_splice	CCDS11645.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.577426	0.65878	.	.	ENSG00000087191	ENST00000310144;ENST00000375812	D;D	0.94576	-3.46;-3.45	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.94056	0.8095	M	0.63428	1.95	0.80722	D	1	B;B	0.31859	0.343;0.343	B;B	0.40134	0.32;0.32	D	0.93225	0.6612	10	0.54805	T	0.06	.	14.0326	0.64624	0.0:0.0:1.0:0.0	.	80;88	A8K3Z3;P62195	.;PRS8_HUMAN	N	88;80	ENSP00000310572:K88N;ENSP00000364970:K80N	ENSP00000310572:K88N	K	+	3	2	PSMC5	59261041	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.109000	0.94291	2.691000	0.91804	0.655000	0.94253	AAG		0.557	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805	Missense_Mutation	13	51	0	0	0	1	0	13	51					C	61907309	G	C	61907309	5	2	460	1	0	0	0	0	0	0	1	0	12690	1014	35	4	278	4	PSMC5	17	61907309	Splice_Site	SNP	G	TCGA-IM-A41Y-01A-11D-A23U-08		61907309	19287901	32	9451											
NETO1	81832	broad.mit.edu	37	chr18	70450954	70450954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcatctgaaatcggctgtttCgactgccctcatctgcccac	8	15	3	1			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr18:70450954C>T	ENST00000327305.6	-	7	1484	c.827G>A	c.(826-828)cGa>cAa	p.R276Q	NETO1_ENST00000583169.1_Missense_Mutation_p.R276Q|NETO1_ENST00000299430.2_Missense_Mutation_p.R275Q	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	276	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TCGGCTGTTTCGACTGCCCTC	0.463																																						ENST00000327305.6																			0				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63						c.(826-828)cGa>cAa		neuropilin (NRP) and tolloid (TLL)-like 1							158	138	145					18																	70450954		2203	4300	6503	SO:0001583	missense	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70450954C>T	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.827G>A	18.37:g.70450954C>T	ENSP00000313088:p.Arg276Gln					NETO1_ENST00000299430.2_Missense_Mutation_p.R275Q|NETO1_ENST00000583169.1_Missense_Mutation_p.R276Q	p.R276Q	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	7	1484	-		Esophageal squamous(42;0.129)	276			CUB 2.		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.827G>A	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	C	33	5.210162	0.95069	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.16597	2.33;2.33	5.54	5.54	0.83059	CUB (5);	0.000000	0.50627	D	0.000103	T	0.44623	0.1302	M	0.72479	2.2	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.75484	0.986;0.913	T	0.28933	-1.0028	10	0.66056	D	0.02	-12.325	19.8487	0.96730	0.0:1.0:0.0:0.0	.	275;276	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	Q	276;275	ENSP00000313088:R276Q;ENSP00000299430:R275Q	ENSP00000299430:R275Q	R	-	2	0	NETO1	68601934	1.000000	0.71417	0.139000	0.22197	0.938000	0.57974	7.776000	0.85560	2.748000	0.94277	0.650000	0.86243	CGA		0.463	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		8	164	0	0	0	1	0	8	164					T	70450954	C	T	70450954	3	4	460	1	0	0	0	0	1	0	0	0	10339	884	31	1	790	1	NETO1	18	70450954	Missense_Mutation	SNP	C	TCGA-IM-A41Y-01A-11D-A23U-08		70450954	7626294	33	9452											
ZNF236	7776	broad.mit.edu	37	chr18	74667954	74667954	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tttccaggtagctggcgtctCtgggaacctggccccgggca	14	13	1	0			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr18:74667954C>G	ENST00000253159.8	+	28	5120	c.4922C>G	c.(4921-4923)tCt>tGt	p.S1641C	ZNF236_ENST00000320610.9_Missense_Mutation_p.S1643C	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1641					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)		GCTGGCGTCTCTGGGAACCTG	0.592																																						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.(4921-4923)tCt>tGt		zinc finger protein 236							14	17	16					18																	74667954		1942	4141	6083	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74667954C>G	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.4922C>G	18.37:g.74667954C>G	ENSP00000253159:p.Ser1641Cys					ZNF236_ENST00000320610.9_Missense_Mutation_p.S1643C	p.S1641C	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	28	5120	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	1641					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.4922C>G	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.670264	0.29693	.	.	ENSG00000130856	ENST00000253159	T	0.11495	2.77	5.56	4.69	0.59074	.	0.231760	0.37955	N	0.001874	T	0.10294	0.0252	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.18745	-1.0327	10	0.72032	D	0.01	.	13.3384	0.60530	0.1577:0.8423:0.0:0.0	.	1641	Q9UL36	ZN236_HUMAN	C	1641	ENSP00000253159:S1641C	ENSP00000253159:S1641C	S	+	2	0	ZNF236	72796942	0.846000	0.29590	0.000000	0.03702	0.700000	0.40528	3.202000	0.51067	1.343000	0.45638	0.655000	0.94253	TCT		0.592	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			7	14	0	0	0	1	0	7	14					G	74667954	C	G	74667954	3	3	460	1	0	0	0	0	1	0	0	0	17786	913	32	4	5032	4	ZNF236	18	74667954	Missense_Mutation	SNP	C	TCGA-IM-A41Y-01A-11D-A23U-08	4217000	74667954	3409294	34	9453											
TJP3	27134	broad.mit.edu	37	chr19	3747863	3747863	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gacagctccgctgacctcagCtgcgacagccgcgttaacag	11	15	1	1			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr19:3747863C>G	ENST00000541714.2	+	19	2856	c.2394C>G	c.(2392-2394)agC>agG	p.S798R	TJP3_ENST00000382008.3_Missense_Mutation_p.S812R|TJP3_ENST00000539908.2_Missense_Mutation_p.S762R|TJP3_ENST00000589378.1_Missense_Mutation_p.S807R|TJP3_ENST00000587686.1_Missense_Mutation_p.S817R|TJP3_ENST00000262968.9_Missense_Mutation_p.S831R	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	798					regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGACCTCAGCTGCGACAGCC	0.682																																						ENST00000541714.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(2392-2394)agC>agG		tight junction protein 3							31	27	28					19																	3747863		2201	4297	6498	SO:0001583	missense	27134					tight junction	protein binding	g.chr19:3747863C>G	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"zona occludens 3"	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.2394C>G	19.37:g.3747863C>G	ENSP00000439278:p.Ser798Arg					TJP3_ENST00000587686.1_Missense_Mutation_p.S817R|TJP3_ENST00000539908.2_Missense_Mutation_p.S762R|TJP3_ENST00000589378.1_Missense_Mutation_p.S807R|TJP3_ENST00000382008.3_Missense_Mutation_p.S812R|TJP3_ENST00000262968.9_Missense_Mutation_p.S831R	p.S798R	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	19	2856	+			812					A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	37	c.2394C>G	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	C	17.06	3.291680	0.59976	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.14640	2.5;2.65;2.49;2.55	4.54	4.54	0.55810	.	0.066922	0.64402	D	0.000011	T	0.33876	0.0878	M	0.78637	2.42	0.48762	D	0.999702	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.78314	0.976;0.991;0.946;0.976	T	0.08911	-1.0699	10	0.87932	D	0	.	7.6285	0.28226	0.0:0.7415:0.1673:0.0912	.	817;831;812;798	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	R	798;762;812;831	ENSP00000439278:S798R;ENSP00000439991:S762R;ENSP00000371438:S812R;ENSP00000262968:S831R	ENSP00000262968:S831R	S	+	3	2	TJP3	3698863	1.000000	0.71417	1.000000	0.80357	0.480000	0.33159	3.764000	0.55264	2.062000	0.61559	0.561000	0.74099	AGC		0.682	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			14	32	0	0	0	1	0	14	32					G	3747863	C	G	3747863	3	3	460	1	0	0	0	0	1	0	0	0	15928	796	28	4	2563	4	TJP3	19	3747863	Missense_Mutation	SNP	C	TCGA-IM-A41Y-01A-11D-A23U-08		3747863	55381120	35	9454											
ATP1A3	478	broad.mit.edu	37	chr19	42490290	42490290	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ggggcaccatgttcttgaagGactccatgatcttggagctc	12	10	2	2			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr19:42490290G>C	ENST00000302102.5	-	5	599	c.449C>G	c.(448-450)tCc>tGc	p.S150C	ATP1A3_ENST00000543770.1_Missense_Mutation_p.S161C|ATP1A3_ENST00000545399.1_Missense_Mutation_p.S163C|ATP1A3_ENST00000468774.2_5'Flank|ATP1A3_ENST00000602133.1_Missense_Mutation_p.S120C	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	150					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GTTCTTGAAGGACTCCATGAT	0.632																																						ENST00000545399.1																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						c.(487-489)tCc>tGc		ATPase, Na+/K+ transporting, alpha 3 polypeptide							101	92	95					19																	42490290		2203	4300	6503	SO:0001583	missense	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42490290G>C		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"ATPases / P-type"	801	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-3", "sodium pump subunit alpha-3", "sodium-potassium ATPase catalytic subunit alpha-3"	182350	"dystonia 12"	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.449C>G	19.37:g.42490290G>C	ENSP00000302397:p.Ser150Cys					ATP1A3_ENST00000602133.1_Missense_Mutation_p.S120C|ATP1A3_ENST00000543770.1_Missense_Mutation_p.S161C|ATP1A3_ENST00000302102.5_Missense_Mutation_p.S150C	p.S163C	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN			5	641	-			150					B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	c.488C>G	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.330928	0.81690	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000543770	D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59	4.2	4.2	0.49525	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.96225	0.8769	H	0.96604	3.85	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;0.999;1.0	D	0.97521	1.0073	10	0.87932	D	0	.	14.4187	0.67168	0.0:0.0:1.0:0.0	.	163;161;150;150	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	C	150;150;163;120;161	ENSP00000302397:S150C;ENSP00000411503:S150C;ENSP00000444688:S163C;ENSP00000437577:S161C	ENSP00000302397:S150C	S	-	2	0	ATP1A3	47182130	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.957000	0.87870	2.074000	0.62210	0.491000	0.48974	TCC		0.632	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		4	94	0	0	0	1	0	4	94					C	42490290	G	C	42490290	3	2	460	1	0	0	0	0	1	0	0	0	1130	1174	41	4	2668	4	ATP1A3	19	42490290	Missense_Mutation	SNP	G	TCGA-IM-A41Y-01A-11D-A23U-08	38742427	42490290	16638693	36	9455											
LMTK3	114783	broad.mit.edu	37	chr19	49005719	49005719	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagttgtgggaatgcaggtgCgccagcccgcgggcgatctc	16	11	1	0			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr19:49005719C>T	ENST00000600059.1	-	7	992	c.765G>A	c.(763-765)gcG>gcA	p.A255A	LMTK3_ENST00000270238.3_Silent_p.A284A			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	255	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		AATGCAGGTGCGCCAGCCCGC	0.716																																						ENST00000600059.1																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16						c.(763-765)gcG>gcA		lemur tyrosine kinase 3							22	27	26					19																	49005719		1946	4129	6075	SO:0001819	synonymous_variant	114783							g.chr19:49005719C>T	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 101"						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.765G>A	19.37:g.49005719C>T						LMTK3_ENST00000270238.3_Silent_p.A284A	p.A255A						OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	7	992	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	Silent	SNP	ENST00000600059.1	37	c.765G>A																																																																																					0.716	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		4	62	0	0	0	1	0	4	62					T	49005719	C	T	49005719	2	4	460	1	0	0	0	0	0	0	0	1	8860	755	27	1		1	LMTK3	19	49005719	Silent	SNP	C	TCGA-IM-A41Y-01A-11D-A23U-08	6515429	49005719	10123264	37	9456											
LILRA3	11026	broad.mit.edu	37	chr19	54802035	54802035	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgggccgaggtcacaggacTcatggggaattcagcctggt	16	9	3	0	rs199563518	byFrequency	TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr19:54802035T>C	ENST00000251390.3	-	6	1244	c.1153A>G	c.(1153-1155)Agt>Ggt	p.S385G	LILRA3_ENST00000391745.1_Missense_Mutation_p.S402G|LILRA3_ENST00000391744.3_Missense_Mutation_p.S321G	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	385	Ig-like C2-type 4.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTCACAGGACTCATGGGGAAT	0.582													.|||	9	0.00179712	0	0	5008	,	,		11732	0.002		0	False		,,,				2504	0.0072					ENST00000391745.1																			0				NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1204-1206)Agt>Ggt		leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3							127	114	118					19																	54802035		2193	4182	6375	SO:0001583	missense	0							g.chr19:54802035T>C	U91926		19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.1153A>G	19.37:g.54802035T>C	ENSP00000251390:p.Ser385Gly					LILRA3_ENST00000391744.3_Missense_Mutation_p.S321G|LILRA3_ENST00000251390.3_Missense_Mutation_p.S385G	p.S402G						GBM - Glioblastoma multiforme(193;0.105)	10	1520	-	Ovarian(34;0.19)							J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	ENST00000251390.3	37	c.1204A>G	CCDS12887.1	.	.	.	.	.	.	.	.	.	.	T	4.470	0.087030	0.08583	.	.	ENSG00000170866	ENST00000251390;ENST00000391744;ENST00000391745	T;T;T	0.03889	3.77;3.77;3.77	3.07	-2.2	0.06994	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	1.539810	0.04082	N	0.309784	T	0.02571	0.0078	N	0.10782	0.045	0.09310	N	1	B;B	0.12630	0.006;0.0	B;B	0.09377	0.004;0.001	T	0.44283	-0.9338	10	0.18710	T	0.47	.	4.0078	0.09608	0.0:0.4092:0.2138:0.377	.	385;385	E7EU74;Q8N6C8	.;LIRA3_HUMAN	G	385;321;402	ENSP00000251390:S385G;ENSP00000375624:S321G;ENSP00000375625:S402G	ENSP00000251390:S385G	S	-	1	0	LILRA3	59493847	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.722000	0.01868	-0.276000	0.09206	0.482000	0.46254	AGT		0.582	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			4	110	0	0	0	1	0	4	110					C	54802035	T	C	54802035	3	2	460	1	0	0	0	0	1	0	0	0	8786	1551	54	3	174	3	LILRA3	19	54802035	Missense_Mutation	SNP	T	TCGA-IM-A41Y-01A-11D-A23U-08	5796316	54802035	4326948	38	9457											
PRIC285	85441	broad.mit.edu	37	chr20	62199815	62199815	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccggtgccaaaggggccataGatgagtagcggggggacacg	18	9	0	2			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr20:62199815G>C	ENST00000467148.1	-	5	1695	c.1626C>G	c.(1624-1626)atC>atG	p.I542M	HELZ2_ENST00000427522.2_5'Flank|HELZ2_ENST00000479540.1_5'Flank	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	542					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										AGGGGCCATAGATGAGTAGCG	0.667																																						ENST00000467148.1																			0											c.(1624-1626)atC>atG		helicase with zinc finger 2, transcriptional coactivator							39	36	37					20																	62199815		2188	4295	6483	SO:0001583	missense	85441							g.chr20:62199815G>C	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.1626C>G	20.37:g.62199815G>C	ENSP00000417401:p.Ile542Met					RP4-697K14.12_ENST00000454223.1_RNA	p.I542M	NM_001037335.2	NP_001032412.2					5	1695	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.1626C>G	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.959717	0.53400	.	.	ENSG00000130589	ENST00000467148	D	0.86956	-2.19	4.49	3.28	0.37604	ATPase, AAA+ type, core (1);	0.133216	0.48286	D	0.000182	D	0.93350	0.7880	M	0.93150	3.385	0.29070	N	0.883371	D	0.63046	0.992	P	0.61070	0.883	D	0.88603	0.3151	10	0.87932	D	0	-23.7242	10.1608	0.42851	0.1797:0.0:0.8203:0.0	.	542	Q9BYK8	PR285_HUMAN	M	542	ENSP00000417401:I542M	ENSP00000417401:I542M	I	-	3	3	RP4-697K14.7	61670259	1.000000	0.71417	0.998000	0.56505	0.824000	0.46624	0.934000	0.28910	2.070000	0.61991	0.558000	0.71614	ATC		0.667	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		6	5	0	0	0	1	0	6	5					C	62199815	G	C	62199815	3	2	460	1	0	0	0	0	1	0	0	0	12485	932	33	4	6406	4	PRIC285	20	62199815	Missense_Mutation	SNP	G	TCGA-IM-A41Y-01A-11D-A23U-08		62199815	825705	39	9458											
ZNF512B	57473	broad.mit.edu	37	chr20	62593668	62593668	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cctttctccttcacttcattCttccatgcctctagcagctg	4	16	5	0			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr20:62593668C>G	ENST00000450537.1	-	14	2283	c.2223G>C	c.(2221-2223)aaG>aaC	p.K741N	ZNF512B_ENST00000369888.1_Missense_Mutation_p.K741N|ZNF512B_ENST00000217130.3_Missense_Mutation_p.K741N			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	741					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)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TCACTTCATTCTTCCATGCCT	0.622																																						ENST00000450537.1																			0				NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33						c.(2221-2223)aaG>aaC		zinc finger protein 512B							116	108	110					20																	62593668		2203	4300	6503	SO:0001583	missense	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62593668C>G	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.2223G>C	20.37:g.62593668C>G	ENSP00000393795:p.Lys741Asn					ZNF512B_ENST00000217130.3_Missense_Mutation_p.K741N|ZNF512B_ENST00000369888.1_Missense_Mutation_p.K741N	p.K741N			Q96KM6	Z512B_HUMAN			14	2283	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		741					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.2223G>C	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.811758	0.70797	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.27104	1.69;1.69;1.69	5.48	3.54	0.40534	.	0.000000	0.85682	D	0.000000	T	0.44705	0.1306	M	0.65498	2.005	0.42739	D	0.993733	D	0.89917	1.0	D	0.83275	0.996	T	0.42224	-0.9464	10	0.87932	D	0	-24.8821	8.1769	0.31287	0.0:0.761:0.0:0.239	.	741	Q96KM6	Z512B_HUMAN	N	741	ENSP00000358904:K741N;ENSP00000393795:K741N;ENSP00000217130:K741N	ENSP00000217130:K741N	K	-	3	2	ZNF512B	62064112	1.000000	0.71417	0.986000	0.45419	0.904000	0.53231	0.923000	0.28757	1.311000	0.45024	0.557000	0.71058	AAG		0.622	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		5	129	0	0	0	1	0	5	129					G	62593668	C	G	62593668	3	3	460	1	0	0	0	0	1	0	0	0	17954	912	32	4	471	4	ZNF512B	20	62593668	Missense_Mutation	SNP	C	TCGA-IM-A41Y-01A-11D-A23U-08	393853	62593668	431852	40	9459											
TGIF2LX	90316	broad.mit.edu	37	chrX	89177590	89177590	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gccaaagggccagatgtcaaGagagaagcaaccagatccgg	13	10	1	4			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chrX:89177590G>C	ENST00000561129.2	+	1	636	c.506G>C	c.(505-507)aGa>aCa	p.R169T	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.R169T			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	169					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CAGATGTCAAGAGAGAAGCAA	0.587																																						ENST00000561129.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						c.(505-507)aGa>aCa		TGFB-induced factor homeobox 2-like, X-linked							35	40	39					X																	89177590		2203	4296	6499	SO:0001583	missense	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177590G>C	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"Homeoboxes / TALE class"	18570	protein-coding gene	gene with protein product		300411	"TGFB-induced factor 2-like, X-linked"				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.506G>C	X.37:g.89177590G>C	ENSP00000453704:p.Arg169Thr					TGIF2LX_ENST00000283891.5_Missense_Mutation_p.R169T	p.R169T			Q8IUE1	TF2LX_HUMAN			1	636	+			169					Q5JRM9|Q8TD48	Missense_Mutation	SNP	ENST00000561129.2	37	c.506G>C	CCDS14459.1	.	.	.	.	.	.	.	.	.	.	G	1.222	-0.626604	0.03610	.	.	ENSG00000153779	ENST00000283891	T	0.64438	-0.1	2.67	-0.0566	0.13805	.	.	.	.	.	T	0.43010	0.1228	L	0.29908	0.895	0.09310	N	1	B	0.14012	0.009	B	0.15484	0.013	T	0.21965	-1.0230	8	.	.	.	-3.9515	4.9274	0.13900	0.6446:0.0:0.3554:0.0	.	169	Q8IUE1	TF2LX_HUMAN	T	169	ENSP00000355119:R169T	.	R	+	2	0	TGIF2LX	89064246	0.001000	0.12720	0.000000	0.03702	0.040000	0.13550	-0.057000	0.11768	-0.136000	0.11475	0.506000	0.49869	AGA		0.587	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960		3	50	0	0	0	1	0	3	50					C	89177590	G	C	89177590	3	2	460	1	0	0	0	0	1	0	0	0	15824	942	33	4	508	4	TGIF2LX	23	89177590	Missense_Mutation	SNP	G	TCGA-IM-A41Y-01A-11D-A23U-08		89177590	66092970	41	9460											
SFRS11	9295	broad.mit.edu	37	chr1	70694137	70694137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagtctcatctcgtgtctGctttgttaagttccatgatc	8	11	3	1			TCGA-IM-A41Z-01A-11D-A23M-08	TCGA-IM-A41Z-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc9b09-16d9-4f75-afd4-202d31227e7e	8569bd7b-8d5c-4618-9226-586227528f73	g.chr1:70694137G>A	ENST00000370950.3	+	3	318	c.236G>A	c.(235-237)tGc>tAc	p.C79Y	SRSF11_ENST00000454435.2_Missense_Mutation_p.C79Y|SRSF11_ENST00000436161.2_Missense_Mutation_p.C79Y|SRSF11_ENST00000405432.1_Missense_Mutation_p.C79Y|SRSF11_ENST00000370951.1_Missense_Mutation_p.C79Y			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	79	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|ovary(2)|skin(1)	6						TCTCGTGTCTGCTTTGTTAAG	0.378																																						ENST00000370950.3																			0				large_intestine(3)|ovary(2)|skin(1)	6						c.(235-237)tGc>tAc		serine/arginine-rich splicing factor 11							202	172	182					1																	70694137		2203	4300	6503	SO:0001583	missense	9295				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:70694137G>A	M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10782	protein-coding gene	gene with protein product	"SR splicing factor 11"	602010	"splicing factor, arginine/serine-rich 11"	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.236G>A	1.37:g.70694137G>A	ENSP00000359988:p.Cys79Tyr					SRSF11_ENST00000454435.2_Missense_Mutation_p.C79Y|SRSF11_ENST00000405432.1_Missense_Mutation_p.C79Y|SRSF11_ENST00000370951.1_Missense_Mutation_p.C79Y|SRSF11_ENST00000436161.2_Missense_Mutation_p.C79Y	p.C79Y			Q05519	SRS11_HUMAN			3	318	+			79			RRM.		Q5T758|Q8IWE6	Missense_Mutation	SNP	ENST00000370950.3	37	c.236G>A	CCDS647.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.815971	0.70912	.	.	ENSG00000116754	ENST00000370951;ENST00000370950;ENST00000405432;ENST00000454435;ENST00000395136;ENST00000436161	T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27	5.34	5.34	0.76211	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.42337	0.1198	M	0.85710	2.77	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.997;0.999;0.999;0.997	D;D;D;D;D;D	0.87578	0.996;0.989;0.996;0.998;0.998;0.996	T	0.49437	-0.8940	10	0.87932	D	0	.	19.0454	0.93018	0.0:0.0:1.0:0.0	.	79;79;79;79;79;79	B4DTC1;B4DWT1;Q05BU6;Q6PJB9;Q8IWE6;Q05519	.;.;.;.;.;SRS11_HUMAN	Y	79	ENSP00000359989:C79Y;ENSP00000359988:C79Y;ENSP00000384357:C79Y;ENSP00000411159:C79Y;ENSP00000378568:C79Y;ENSP00000405120:C79Y	ENSP00000359988:C79Y	C	+	2	0	SRSF11	70466725	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.522000	0.85027	0.563000	0.77884	TGC		0.378	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025889.1	NM_004768		9	107	0	0	0	1	0	9	107					A	70694137	G	A	70694137	3	1	461	1	0	0	0	0	1	0	0	0	14166	1319	46	2	242	2	SFRS11	1	70694137	Missense_Mutation	SNP	G	TCGA-IM-A41Z-01A-11D-A23M-08		70694137	178556484	1	9461											
NRAS	4893	broad.mit.edu	37	chr1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catggcactgtactcttcttGtccagctgtatccagtatgt	8	11	2	0	rs121913254		TCGA-IM-A41Z-01A-11D-A23M-08	TCGA-IM-A41Z-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc9b09-16d9-4f75-afd4-202d31227e7e	8569bd7b-8d5c-4618-9226-586227528f73	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		610	Substitution - Missense(609)|Complex(1)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)	skin(372)|haematopoietic_and_lymphoid_tissue(73)|thyroid(55)|NS(29)|large_intestine(28)|soft_tissue(16)|lung(12)|autonomic_ganglia(6)|liver(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|cervix(2)|endometrium(2)|pancreas(2)|meninges(1)|kidney(1)|biliary_tract(1)|stomach(1)|ovary(1)|bone(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)Caa>Aaa		neuroblastoma RAS viral (v-ras) oncogene homolog							180	156	164					1																	115256530		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256530G>T	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.181C>A	1.37:g.115256530G>T	ENSP00000358548:p.Gln61Lys	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61K	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	434	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.181C>A	CCDS877.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255564	0.95336	.	.	ENSG00000213281	ENST00000369535	D	0.83506	-1.73	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.91845	0.7419	H	0.95850	3.73	0.80722	D	1	P	0.51791	0.948	P	0.54759	0.76	D	0.93711	0.7024	10	0.62326	D	0.03	.	18.6626	0.91477	0.0:0.0:1.0:0.0	.	61	P01111	RASN_HUMAN	K	61	ENSP00000358548:Q61K	ENSP00000358548:Q61K	Q	-	1	0	NRAS	115058053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.520000	0.98027	2.624000	0.88883	0.655000	0.94253	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		76	154	1	0	1.25089e-41	1	1.30092e-41	76	154					T	115256530	G	T	115256530	3	4	461	1	0	0	0	0	1	0	0	0	10640	1386	48	4	400	4	NRAS	1	115256530	Missense_Mutation	SNP	G	TCGA-IM-A41Z-01A-11D-A23M-08	44562393	115256530	133994091	2	9462											
EPHB6	2051	broad.mit.edu	37	chr7	142564018	142564018	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttaatggggtgtctgagcTcagccctgaccctcctcagg	12	12	3	2			TCGA-IM-A41Z-01A-11D-A23M-08	TCGA-IM-A41Z-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc9b09-16d9-4f75-afd4-202d31227e7e	8569bd7b-8d5c-4618-9226-586227528f73	g.chr7:142564018T>G	ENST00000392957.2	+	9	2193	c.1406T>G	c.(1405-1407)cTc>cGc	p.L469R	EPHB6_ENST00000442129.1_Missense_Mutation_p.L469R|EPHB6_ENST00000411471.2_Missense_Mutation_p.L192R	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	469	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GTGTCTGAGCTCAGCCCTGAC	0.592																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(1405-1407)cTc>cGc		EPH receptor B6							50	51	50					7																	142564018		2203	4300	6503	SO:0001583	missense	0					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142564018T>G	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.1406T>G	7.37:g.142564018T>G	ENSP00000376684:p.Leu469Arg					EPHB6_ENST00000442129.1_Missense_Mutation_p.L469R|EPHB6_ENST00000411471.2_Missense_Mutation_p.L192R	p.L469R	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			9	2193	+	Melanoma(164;0.059)		469			Fibronectin type-III 1.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.1406T>G	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	T	18.00	3.526385	0.64860	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	T;T;T	0.53206	0.63;0.63;0.63	5.48	5.48	0.80851	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.161503	0.29558	N	0.011818	T	0.64853	0.2636	M	0.71296	2.17	0.58432	D	0.999996	D	0.89917	1.0	D	0.79108	0.992	T	0.66767	-0.5840	10	0.52906	T	0.07	.	10.0631	0.42286	0.1499:0.0:0.0:0.8501	.	469	O15197	EPHB6_HUMAN	R	469;469;192	ENSP00000376684:L469R;ENSP00000410789:L469R;ENSP00000409061:L192R	ENSP00000376684:L469R	L	+	2	0	EPHB6	142274140	0.981000	0.34729	1.000000	0.80357	0.994000	0.84299	2.759000	0.47573	2.070000	0.61991	0.459000	0.35465	CTC		0.592	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			8	33	0	0	0	1	0	8	33					G	142564018	T	G	142564018	3	3	461	1	0	0	0	0	1	0	0	0	5178	1551	54	5	1424	5	EPHB6	7	142564018	Missense_Mutation	SNP	T	TCGA-IM-A41Z-01A-11D-A23M-08		142564018	16574645	3	9463											
FOXRED1	55572	broad.mit.edu	37	chr11	126139160	126139160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcttgacccggaggccagGcacgcgcagaggaggctttt	14	13	1	2			TCGA-IM-A41Z-01A-11D-A23M-08	TCGA-IM-A41Z-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc9b09-16d9-4f75-afd4-202d31227e7e	8569bd7b-8d5c-4618-9226-586227528f73	g.chr11:126139160G>A	ENST00000263578.5	+	1	133	c.59G>A	c.(58-60)gGc>gAc	p.G20D	FOXRED1_ENST00000534011.1_3'UTR|FOXRED1_ENST00000532125.1_5'UTR|SRPR_ENST00000332118.6_5'Flank|SRPR_ENST00000532259.1_5'Flank|SRPR_ENST00000530680.1_5'Flank|FOXRED1_ENST00000442061.2_5'UTR	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	20						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		CGGAGGCCAGGCACGCGCAGA	0.617																																						ENST00000263578.5																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15						c.(58-60)gGc>gAc		FAD-dependent oxidoreductase domain containing 1							59	66	64					11																	126139160		2201	4298	6499	SO:0001583	missense	55572					integral to membrane|mitochondrion	oxidoreductase activity|protein binding	g.chr11:126139160G>A		CCDS8471.1	11q24.2	2006-02-03			ENSG00000110074	ENSG00000110074			26927	protein-coding gene	gene with protein product		613622				10497265	Standard	NM_017547		Approved	H17	uc001qdi.3	Q96CU9	OTTHUMG00000165827	ENST00000263578.5:c.59G>A	11.37:g.126139160G>A	ENSP00000263578:p.Gly20Asp					FOXRED1_ENST00000442061.2_5'UTR|FOXRED1_ENST00000532125.1_5'UTR|FOXRED1_ENST00000534011.1_3'UTR	p.G20D	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)	1	133	+	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)	20					B3KN84|B4DHU2|Q71MG0|Q9BU39|Q9UKY9	Missense_Mutation	SNP	ENST00000263578.5	37	c.59G>A	CCDS8471.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.555069	0.45487	.	.	ENSG00000110074	ENST00000263578	T	0.58940	0.3	4.32	4.32	0.51571	.	0.583928	0.16942	N	0.193233	T	0.46756	0.1409	L	0.39898	1.24	0.80722	D	1	P	0.38195	0.622	B	0.35470	0.203	T	0.39014	-0.9634	10	0.22109	T	0.4	-2.1038	13.9931	0.64378	0.0:0.0:1.0:0.0	.	20	Q96CU9	FXRD1_HUMAN	D	20	ENSP00000263578:G20D	ENSP00000263578:G20D	G	+	2	0	FOXRED1	125644370	0.301000	0.24444	0.075000	0.20258	0.004000	0.04260	2.936000	0.48971	2.399000	0.81585	0.491000	0.48974	GGC		0.617	FOXRED1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386434.1	NM_017547		28	54	0	0	0	1	0	28	54					A	126139160	G	A	126139160	3	1	461	1	0	0	0	0	1	0	0	0	6033	1203	42	2	61	2	FOXRED1	11	126139160	Missense_Mutation	SNP	G	TCGA-IM-A41Z-01A-11D-A23M-08		126139160	8867356	4	9464											
ANKFY1	51479	broad.mit.edu	37	chr17	4076666	4076666	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctgagattaaaggcttcGgcgtccactgtgcactctgt	10	12	1	1	rs539856863		TCGA-IM-A41Z-01A-11D-A23M-08	TCGA-IM-A41Z-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc9b09-16d9-4f75-afd4-202d31227e7e	8569bd7b-8d5c-4618-9226-586227528f73	g.chr17:4076666G>A	ENST00000341657.4	-	21	3032	c.2997C>T	c.(2995-2997)gcC>gcT	p.A999A	CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000570535.1_Silent_p.A1041A|ANKFY1_ENST00000574367.1_Silent_p.A1000A	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	999					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TAAAGGCTTCGGCGTCCACTG	0.602													G|||	1	0.000199681	8e-04	0	5008	,	,		14440	0		0	False		,,,				2504	0					ENST00000341657.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2995-2997)gcC>gcT		ankyrin repeat and FYVE domain containing 1							66	73	71					17																	4076666		1966	4150	6116	SO:0001819	synonymous_variant	51479					endosome membrane	metal ion binding|protein binding	g.chr17:4076666G>A	AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"Zinc fingers, FYVE domain containing", "BTB/POZ domain containing", "Ankyrin repeat domain containing"	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.2997C>T	17.37:g.4076666G>A						ANKFY1_ENST00000574367.1_Silent_p.A1000A|CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000570535.1_Silent_p.A1041A	p.A999A	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN			21	3032	-			999					A8KA65|Q5RKV4|Q9ULG5	Silent	SNP	ENST00000341657.4	37	c.2997C>T																																																																																					0.602	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1	NM_016376		29	66	0	0	0	1	0	29	66					A	4076666	G	A	4076666	2	1	461	1	0	0	0	0	0	0	0	1	626	1103	39	1		1	ANKFY1	17	4076666	Silent	SNP	G	TCGA-IM-A41Z-01A-11D-A23M-08		4076666	77118544	5	9465											
KCNH4	23415	broad.mit.edu	37	chr17	40330198	40330198	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacagtacggctccgtcttcTggcagaccgaaatttccagg	11	12	2	1			TCGA-IM-A41Z-01A-11D-A23M-08	TCGA-IM-A41Z-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc9b09-16d9-4f75-afd4-202d31227e7e	8569bd7b-8d5c-4618-9226-586227528f73	g.chr17:40330198T>C	ENST00000264661.3	-	4	837	c.505A>G	c.(505-507)Aga>Gga	p.R169G	KCNH4_ENST00000607371.1_Missense_Mutation_p.R169G	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	169					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTCCGTCTTCTGGCAGACCGA	0.592																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(505-507)Aga>Gga		potassium voltage-gated channel, subfamily H (eag-related), member 4							78	79	79					17																	40330198		2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40330198T>C	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.505A>G	17.37:g.40330198T>C	ENSP00000264661:p.Arg169Gly					KCNH4_ENST00000607371.1_Missense_Mutation_p.R169G	p.R169G	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	4	837	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	169						Missense_Mutation	SNP	ENST00000264661.3	37	c.505A>G	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	T	12.31	1.899152	0.33535	.	.	ENSG00000089558	ENST00000264661	D	0.98996	-5.31	4.86	2.58	0.30949	.	0.155416	0.29924	N	0.010843	D	0.98210	0.9408	M	0.78456	2.415	0.35759	D	0.819989	B	0.28636	0.218	B	0.36092	0.217	D	0.98977	1.0803	10	0.56958	D	0.05	.	11.8796	0.52566	0.0:0.0:0.4514:0.5486	.	169	Q9UQ05	KCNH4_HUMAN	G	169	ENSP00000264661:R169G	ENSP00000264661:R169G	R	-	1	2	KCNH4	37583724	0.997000	0.39634	0.471000	0.27229	0.285000	0.27093	1.705000	0.37867	0.320000	0.23234	0.383000	0.25322	AGA		0.592	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		40	96	0	0	0	1	0	40	96					C	40330198	T	C	40330198	3	2	461	1	0	0	0	0	1	0	0	0	8034	1588	55	3	2600	3	KCNH4	17	40330198	Missense_Mutation	SNP	T	TCGA-IM-A41Z-01A-11D-A23M-08	36253532	40330198	40865012	6	9466											
CDH2	1000	broad.mit.edu	37	chr18	25572628	25572628	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaacacttactttgaccacGgtgactaacccgtcgttgct	9	12	0	2	rs370083047		TCGA-IM-A41Z-01A-11D-A23M-08	TCGA-IM-A41Z-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc9b09-16d9-4f75-afd4-202d31227e7e	8569bd7b-8d5c-4618-9226-586227528f73	g.chr18:25572628G>A	ENST00000269141.3	-	9	1758	c.1335C>T	c.(1333-1335)acC>acT	p.T445T	CDH2_ENST00000399380.3_Silent_p.T414T	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	445	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTTGACCACGGTGACTAACC	0.517																																						ENST00000269141.3																			0				NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(1333-1335)acC>acT		cadherin 2, type 1, N-cadherin (neuronal)		G		0,4406		0,0,2203	155	131	139		1335	-7.8	0.9	18		139	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CDH2	NM_001792.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		445/907	25572628	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25572628G>A	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"CD molecules", "Cadherins / Major cadherins"	1759	protein-coding gene	gene with protein product	"N-cadherin"	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1335C>T	18.37:g.25572628G>A						CDH2_ENST00000399380.3_Silent_p.T414T	p.T445T	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN			9	1758	-			445			Cadherin 3.		A8MWK3|B0YIY6|Q14923|Q8N173	Silent	SNP	ENST00000269141.3	37	c.1335C>T	CCDS11891.1																																																																																				0.517	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		17	54	0	0	0	1	0	17	54					A	25572628	G	A	25572628	2	1	461	1	0	0	0	0	0	0	0	1	3105	1103	39	1		1	CDH2	18	25572628	Silent	SNP	G	TCGA-IM-A41Z-01A-11D-A23M-08		25572628	52504620	7	9467											
MYO9B	4650	broad.mit.edu	37	chr19	17322762	17322762	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accccgagccccctccccacCgtggccgcccctccacgacg	8	25	0	0			TCGA-IM-A41Z-01A-11D-A23M-08	TCGA-IM-A41Z-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc9b09-16d9-4f75-afd4-202d31227e7e	8569bd7b-8d5c-4618-9226-586227528f73	g.chr19:17322762C>T	ENST00000594824.1	+	40	6264	c.6117C>T	c.(6115-6117)acC>acT	p.T2039T	MYO9B_ENST00000397274.2_3'UTR|MYO9B_ENST00000595618.1_3'UTR			Q13459	MYO9B_HUMAN	myosin IXB	2039	Tail.			TVAAPP -> PWPPLH (in Ref. 3; AAC26597). {ECO:0000305}.	actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CCCTCCCCACCGTGGCCGCCC	0.692																																						ENST00000594824.1																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(6115-6117)acC>acT		myosin IXB							5	7	6					19																	17322762		1653	3805	5458	SO:0001819	synonymous_variant	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17322762C>T		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.6117C>T	19.37:g.17322762C>T						MYO9B_ENST00000595618.1_3'UTR|MYO9B_ENST00000397274.2_3'UTR	p.T2039T			Q13459	MYO9B_HUMAN			40	6264	+			2039	TVAAPP -> PWPPLH (in Ref. 3; AAC26597).		Tail.		O75314|Q9NUJ2|Q9UHN0	Silent	SNP	ENST00000594824.1	37	c.6117C>T																																																																																					0.692	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			3	15	0	0	0	1	0	3	15					T	17322762	C	T	17322762	2	4	461	1	0	0	0	0	0	0	0	1	10085	639	23	1		1	MYO9B	19	17322762	Silent	SNP	C	TCGA-IM-A41Z-01A-11D-A23M-08		17322762	41806221	8	9468											
PPCS	79717	broad.mit.edu	37	chr1	42922574	42922574	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccttcgggcccagccctttCgggcttgctgagcctggagg	15	14	0	1			TCGA-IM-A420-01A-11D-A23M-08	TCGA-IM-A420-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd706a0f-2fb1-4b3c-8298-680f921f25e6	0c308133-a356-4cb7-8da0-b70e2bcd8322	g.chr1:42922574C>T	ENST00000372561.3	+	1	345	c.338C>T	c.(337-339)tCg>tTg	p.S113L	ZMYND12_ENST00000372565.3_5'Flank|PPCS_ENST00000372560.3_Missense_Mutation_p.S113L|PPCS_ENST00000455780.1_Intron|ZMYND12_ENST00000433602.2_5'Flank|PPCS_ENST00000372556.3_Intron|PPCS_ENST00000372562.1_Intron|PPCS_ENST00000472013.1_3'UTR	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase	113					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	phosphopantothenate--cysteine ligase activity (GO:0004632)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCAGCCCTTTCGGGCTTGCTG	0.647																																						ENST00000372561.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(337-339)tCg>tTg		phosphopantothenoylcysteine synthetase							55	60	58					1																	42922574		1879	4089	5968	SO:0001583	missense	79717				coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity	g.chr1:42922574C>T	AK021900	CCDS41311.1, CCDS41312.1	1p34.2	2008-02-05			ENSG00000127125	ENSG00000127125	6.3.2.5		25686	protein-coding gene	gene with protein product		609853				11923312	Standard	NM_024664		Approved	FLJ11838	uc001chl.3	Q9HAB8	OTTHUMG00000007332	ENST00000372561.3:c.338C>T	1.37:g.42922574C>T	ENSP00000361642:p.Ser113Leu					PPCS_ENST00000372560.3_Missense_Mutation_p.S113L|PPCS_ENST00000372556.3_Intron|PPCS_ENST00000372562.1_Intron|PPCS_ENST00000455780.1_Intron|PPCS_ENST00000472013.1_3'UTR	p.S113L	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN			1	345	+	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	113					Q3KQT2|Q5VVM0	Missense_Mutation	SNP	ENST00000372561.3	37	c.338C>T	CCDS41311.1	.	.	.	.	.	.	.	.	.	.	C	9.234	1.036661	0.19669	.	.	ENSG00000127125	ENST00000372560;ENST00000372561	.	.	.	5.11	4.19	0.49359	DNA/pantothenate metabolism flavoprotein, C-terminal (3);	0.605214	0.17816	N	0.161037	T	0.25938	0.0632	N	0.19112	0.55	0.26322	N	0.977663	B	0.32128	0.357	B	0.24541	0.054	T	0.08868	-1.0701	9	0.27082	T	0.32	1.4872	13.0104	0.58727	0.1627:0.8373:0.0:0.0	.	113	Q9HAB8	PPCS_HUMAN	L	113	.	ENSP00000361641:S113L	S	+	2	0	PPCS	42695161	0.084000	0.21492	0.185000	0.23176	0.228000	0.25075	0.677000	0.25262	1.514000	0.48869	-0.188000	0.12872	TCG		0.647	PPCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019166.1	NM_024664		4	98	0	0	0	1	0	4	98					T	42922574	C	T	42922574	3	4	462	1	0	0	0	0	1	0	0	0	12305	893	31	1	340	1	PPCS	1	42922574	Missense_Mutation	SNP	C	TCGA-IM-A420-01A-11D-A23M-08		42922574	206328047	1	9469											
IRS1	3667	broad.mit.edu	37	chr2	227661681	227661681	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgccccccccgacgctccaAggggtgcatttccagaccct	10	18	0	1			TCGA-IM-A420-01A-11D-A23M-08	TCGA-IM-A420-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd706a0f-2fb1-4b3c-8298-680f921f25e6	0c308133-a356-4cb7-8da0-b70e2bcd8322	g.chr2:227661681A>C	ENST00000305123.5	-	1	2794	c.1774T>G	c.(1774-1776)Ttg>Gtg	p.L592V	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	592					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CGACGCTCCAAGGGGTGCATT	0.692											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(1774-1776)Ttg>Gtg		insulin receptor substrate 1							32	34	33					2																	227661681		2202	4298	6500	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227661681A>C		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.1774T>G	2.37:g.227661681A>C	ENSP00000304895:p.Leu592Val		OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.L592V	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	2794	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	592						Missense_Mutation	SNP	ENST00000305123.5	37	c.1774T>G	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	A	2.080	-0.410881	0.04799	.	.	ENSG00000169047	ENST00000305123	T	0.57595	0.39	4.64	-4.77	0.03219	.	0.691024	0.12451	N	0.467784	T	0.29389	0.0732	N	0.22421	0.69	0.19300	N	0.999975	B	0.15141	0.012	B	0.15870	0.014	T	0.11470	-1.0586	10	0.28530	T	0.3	-5.5295	6.014	0.19592	0.2488:0.0:0.3809:0.3704	.	592	P35568	IRS1_HUMAN	V	592	ENSP00000304895:L592V	ENSP00000304895:L592V	L	-	1	2	IRS1	227369925	0.048000	0.20356	0.630000	0.29268	0.852000	0.48524	-1.080000	0.03407	-1.160000	0.02804	-1.272000	0.01410	TTG		0.692	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		7	23	0	0	0	1	0	7	23					C	227661681	A	C	227661681	3	2	462	1	0	0	0	0	1	0	0	0	7840	69	3	5	1958	5	IRS1	2	227661681	Missense_Mutation	SNP	A	TCGA-IM-A420-01A-11D-A23M-08		227661681	15537692	2	9470											
COL21A1	81578	broad.mit.edu	37	chr6	55940295	55940295	+	Frame_Shift_Del	DEL	T	T	-													acaggcatccctggggctccTttttttccttgctgtcctgg							TCGA-IM-A420-01A-11D-A23M-08	TCGA-IM-A420-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd706a0f-2fb1-4b3c-8298-680f921f25e6	0c308133-a356-4cb7-8da0-b70e2bcd8322	g.chr6:55940295delT	ENST00000244728.5	-	19	2290	c.1893delA	c.(1891-1893)aaafs	p.K631fs	COL21A1_ENST00000535941.1_Frame_Shift_Del_p.K631fs|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370819.1_Frame_Shift_Del_p.K628fs|COL21A1_ENST00000370808.2_Frame_Shift_Del_p.K31fs	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	631					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.G632fs*8(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTGGGGCTCCTTTTTTTCCTT	0.353																																						ENST00000244728.5																			1	Deletion - Frameshift(1)	p.G632fs*8(1)	prostate(1)	breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41						c.(1891-1893)aafs		collagen, type XXI, alpha 1							61	56	58					6																	55940295		1787	4033	5820	SO:0001589	frameshift_variant	0				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:55940295delT	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"Collagens"	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.1893delA	6.37:g.55940295delT	ENSP00000244728:p.Lys631fs					COL21A1_ENST00000370819.1_Frame_Shift_Del_p.K628fs|COL21A1_ENST00000370808.2_Frame_Shift_Del_p.K31fs|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000535941.1_Frame_Shift_Del_p.K631fs	p.K631fs	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		19	2290	-	Lung NSC(77;0.0483)		631			Collagen-like 3.		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Frame_Shift_Del	DEL	ENST00000244728.5	37	c.1893delA	CCDS55025.1																																																																																				0.353	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			2	4						2	4	---	---	---	---	-	55940295	T	-	55940295	7	5	462	1	0	1	0	1	0	0	0	0	3680	1606	56	0	1028	0	COL21A1	6	55940295	Frame_Shift_Del	DEL	T	TCGA-IM-A420-01A-11D-A23M-08		55940295	115174772	3	9471											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-IM-A420-01A-11D-A23M-08	TCGA-IM-A420-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd706a0f-2fb1-4b3c-8298-680f921f25e6	0c308133-a356-4cb7-8da0-b70e2bcd8322	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		13	32	0	0	0	1	0	13	32					T	140453136	A	T	140453136	3	4	462	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-IM-A420-01A-11D-A23M-08		140453136	18685527	4	9472											
HIATL1	84641	broad.mit.edu	37	chr9	97220656	97220656	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactatgcaatggcctgggGccagcactgtatggcttcat	13	10	1	0			TCGA-IM-A420-01A-11D-A23M-08	TCGA-IM-A420-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd706a0f-2fb1-4b3c-8298-680f921f25e6	0c308133-a356-4cb7-8da0-b70e2bcd8322	g.chr9:97220656G>A	ENST00000375344.3	+	11	1448	c.1179G>A	c.(1177-1179)ggG>ggA	p.G393G	HIATL1_ENST00000428393.2_Missense_Mutation_p.A296T	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	393					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				ATGGCCTGGGGCCAGCACTGT	0.448																																					Pancreas(77;1260 1915 1973 10423)	ENST00000428393.2																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11						c.(886-888)Gcc>Acc		hippocampus abundant transcript-like 1							132	126	128					9																	97220656		2203	4300	6503	SO:0001819	synonymous_variant	84641				transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity	g.chr9:97220656G>A	AK027659	CCDS6710.2	9q22.32	2009-12-04			ENSG00000148110	ENSG00000148110			23376	protein-coding gene	gene with protein product							Standard	XM_005252277		Approved	FLJ14753	uc004aur.3	Q5SR56	OTTHUMG00000020265	ENST00000375344.3:c.1179G>A	9.37:g.97220656G>A						HIATL1_ENST00000375344.3_Silent_p.G393G	p.A296T			Q5SR56	HIAL1_HUMAN			9	922	+		Acute lymphoblastic leukemia(62;0.136)	0					B4DUE6|E9PD58|Q3KQT4|Q53GU5|Q8WU95|Q96SM4	Missense_Mutation	SNP	ENST00000375344.3	37	c.886G>A	CCDS6710.2	.	.	.	.	.	.	.	.	.	.	G	15.67	2.903365	0.52333	.	.	ENSG00000148110	ENST00000277183;ENST00000428393	T	0.50813	0.73	5.0	1.12	0.20585	.	.	.	.	.	T	0.32852	0.0843	.	.	.	0.24066	N	0.996	B	0.12013	0.005	B	0.12837	0.008	T	0.31223	-0.9951	8	0.87932	D	0	-7.6591	4.2912	0.10879	0.359:0.1616:0.4793:0.0	.	296	B4DUE6	.	T	98;296	ENSP00000405909:A296T	ENSP00000277183:A98T	A	+	1	0	HIATL1	96260477	0.017000	0.18338	1.000000	0.80357	0.996000	0.88848	-0.843000	0.04350	0.390000	0.25115	0.655000	0.94253	GCC		0.448	HIATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053184.1	NM_032558		4	63	0	0	0	1	0	4	63					A	97220656	G	A	97220656	2	1	462	1	0	0	0	0	0	0	0	1	7098	1190	42	2		2	HIATL1	9	97220656	Silent	SNP	G	TCGA-IM-A420-01A-11D-A23M-08		97220656	43992775	5	9473											
EHBP1L1	254102	broad.mit.edu	37	chr11	65349139	65349140	+	Frame_Shift_Del	DEL	AG	AG	-													aaagcctcaggggctcctccAgcaggattgggctctgctag							TCGA-IM-A420-01A-11D-A23M-08	TCGA-IM-A420-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd706a0f-2fb1-4b3c-8298-680f921f25e6	0c308133-a356-4cb7-8da0-b70e2bcd8322	g.chr11:65349139_65349140delAG	ENST00000309295.4	+	9	1261_1262	c.996_997delAG	c.(994-999)ccagcafs	p.A333fs		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	333						membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGGCTCCTCCAGCAGGATTGGG	0.668																																						ENST00000309295.4																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(994-999)cccafs		EH domain binding protein 1-like 1																																				SO:0001589	frameshift_variant	254102							g.chr11:65349139_65349140delAG	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.996_997delAG	11.37:g.65349139_65349140delAG	ENSP00000312671:p.Ala333fs						p.PA332fs	NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN			9	1261_1262	+			332					Q8TB89|Q9H7M7	Frame_Shift_Del	DEL	ENST00000309295.4	37	c.996_997delAG	CCDS44649.1																																																																																				0.668	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		2	4						2	4	---	---	---	---	-	65349140	AG	-	65349139	7	5	462	1	0	1	0	1	0	0	0	0	4976	175	7	0	1030	0	EHBP1L1	11	65349139	Frame_Shift_Del	DEL	AG	TCGA-IM-A420-01A-11D-A23M-08		65349139	69657377	6	9474											
ARHGAP27	201176	broad.mit.edu	37	chr17	43481454	43481454	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcacccctgccttgtccaaGgtcttggtctaagagagaga	11	11	2	2			TCGA-IM-A420-01A-11D-A23M-08	TCGA-IM-A420-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd706a0f-2fb1-4b3c-8298-680f921f25e6	0c308133-a356-4cb7-8da0-b70e2bcd8322	g.chr17:43481454G>C	ENST00000428638.1	-	7	1487	c.1488C>G	c.(1486-1488)acC>acG	p.T496T	ARHGAP27_ENST00000582826.1_5'Flank|ARHGAP27_ENST00000442348.1_Silent_p.T469T|ARHGAP27_ENST00000528384.1_Silent_p.T128T|ARHGAP27_ENST00000376922.2_Silent_p.T155T|ARHGAP27_ENST00000532038.1_Silent_p.T274T|ARHGAP27_ENST00000455881.1_Silent_p.T155T|ARHGAP27_ENST00000532891.2_Silent_p.T474T			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	496	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of Rac GTPase activity (GO:0032855)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|SH3 domain binding (GO:0017124)			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					CCTTGTCCAAGGTCTTGGTCT	0.602																																						ENST00000532038.1																			0				endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17						c.(820-822)acC>acG		Rho GTPase activating protein 27							69	67	68					17																	43481454		2203	4300	6503	SO:0001819	synonymous_variant	201176				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding	g.chr17:43481454G>C	AK125535	CCDS11498.1, CCDS74082.1	17q21.31	2013-01-10			ENSG00000159314	ENSG00000159314		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	31813	protein-coding gene	gene with protein product		610591	"SH3 domain containing 20"	SH3D20		15147912	Standard	NM_199282		Approved	CAMGAP1, FLJ43547, SH3P20	uc002iix.3	Q6ZUM4	OTTHUMG00000166982	ENST00000428638.1:c.1488C>G	17.37:g.43481454G>C						ARHGAP27_ENST00000455881.1_Silent_p.T155T|ARHGAP27_ENST00000532891.2_Silent_p.T474T|ARHGAP27_ENST00000442348.1_Silent_p.T469T|ARHGAP27_ENST00000528384.1_Silent_p.T128T|ARHGAP27_ENST00000376922.2_Silent_p.T155T|ARHGAP27_ENST00000428638.1_Silent_p.T496T	p.T274T			Q6ZUM4	RHG27_HUMAN			6	957	-	Renal(3;0.0405)		496			WW 1.		A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Silent	SNP	ENST00000428638.1	37	c.822C>G																																																																																					0.602	ARHGAP27-202	KNOWN	basic	protein_coding	protein_coding		NM_199282		11	20	0	0	0	1	0	11	20					C	43481454	G	C	43481454	2	2	462	1	0	0	0	0	0	0	0	1	876	987	35	4		4	ARHGAP27	17	43481454	Silent	SNP	G	TCGA-IM-A420-01A-11D-A23M-08		43481454	37713756	7	9475											
MYCBPAP	84073	broad.mit.edu	37	chr17	48599381	48599381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccatgcctattctcggccCttctctgctgttctgtggga	9	14	3	0			TCGA-IM-A420-01A-11D-A23M-08	TCGA-IM-A420-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd706a0f-2fb1-4b3c-8298-680f921f25e6	0c308133-a356-4cb7-8da0-b70e2bcd8322	g.chr17:48599381C>T	ENST00000323776.5	+	10	1487	c.1325C>T	c.(1324-1326)cCt>cTt	p.P442L	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.P405L	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)			ATTCTCGGCCCTTCTCTGCTG	0.522																																						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.(1324-1326)cCt>cTt		MYCBP associated protein							139	123	128					17																	48599381		2203	4300	6503	SO:0001583	missense	84073				cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding	g.chr17:48599381C>T	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.1325C>T	17.37:g.48599381C>T	ENSP00000323184:p.Pro442Leu					MYCBPAP_ENST00000436259.2_Missense_Mutation_p.P405L	p.P442L	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.23e-09)		10	1487	+	Breast(11;1.23e-18)		405						Missense_Mutation	SNP	ENST00000323776.5	37	c.1325C>T	CCDS32680.2	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542292	0.85917	.	.	ENSG00000136449	ENST00000323776;ENST00000436259	T;T	0.47528	0.84;0.84	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.71576	0.3356	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75175	-0.3410	10	0.66056	D	0.02	-12.645	17.9242	0.88977	0.0:1.0:0.0:0.0	.	405;442	Q8TBZ2;B4DZQ1	MYBPP_HUMAN;.	L	442;405	ENSP00000323184:P442L;ENSP00000397209:P405L	ENSP00000323184:P442L	P	+	2	0	MYCBPAP	45954380	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.602000	0.67612	2.516000	0.84829	0.650000	0.86243	CCT		0.522	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1	NM_032133		12	35	0	0	0	1	0	12	35					T	48599381	C	T	48599381	3	4	462	1	0	0	0	0	1	0	0	0	10019	681	24	2	1363	2	MYCBPAP	17	48599381	Missense_Mutation	SNP	C	TCGA-IM-A420-01A-11D-A23M-08	5117927	48599381	32595829	8	9476											
APC2	10297	broad.mit.edu	37	chr19	1456896	1456896	+	Frame_Shift_Del	DEL	C	C	-													tccatgttggcgacgcgcgaCcaggaggatacagcgcgcac							TCGA-IM-A420-01A-11D-A23M-08	TCGA-IM-A420-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd706a0f-2fb1-4b3c-8298-680f921f25e6	0c308133-a356-4cb7-8da0-b70e2bcd8322	g.chr19:1456896delC	ENST00000535453.1	+	8	2574	c.861delC	c.(859-861)gacfs	p.D287fs	APC2_ENST00000238483.4_Intron|CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000233607.2_Frame_Shift_Del_p.D287fs			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		CGACGCGCGACCAGGAGGATA	0.687																																						ENST00000535453.1																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18						c.(859-861)gafs		adenomatosis polyposis coli 2							6	6	6					19																	1456896		1928	3701	5629	SO:0001589	frameshift_variant	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1456896delC		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"Armadillo repeat containing"	24036	protein-coding gene	gene with protein product	"adenomatous polyposis coli like"	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.861delC	19.37:g.1456896delC	ENSP00000442954:p.Asp287fs					APC2_ENST00000238483.4_Intron|APC2_ENST00000233607.2_Frame_Shift_Del_p.D287fs	p.D287fs			O95996	APC2_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)	8	2574	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	287					C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Frame_Shift_Del	DEL	ENST00000535453.1	37	c.861delC	CCDS12068.1																																																																																				0.687	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		2	4						2	4	---	---	---	---	-	1456896	C	-	1456896	7	5	462	1	0	1	0	1	0	0	0	0	764	506	18	0	891	0	APC2	19	1456896	Frame_Shift_Del	DEL	C	TCGA-IM-A420-01A-11D-A23M-08		1456896	57672087	9	9477											
TCFL5	10732	broad.mit.edu	37	chr20	61490813	61490813	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgataacagaaagaaaaTgctctaggcaatccaatatc	7	8	1	3			TCGA-IM-A420-01A-11D-A23M-08	TCGA-IM-A420-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd706a0f-2fb1-4b3c-8298-680f921f25e6	0c308133-a356-4cb7-8da0-b70e2bcd8322	g.chr20:61490813T>C	ENST00000335351.3	-	3	989	c.897A>G	c.(895-897)gcA>gcG	p.A299A	TCFL5_ENST00000217162.5_Silent_p.A251A	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	299					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					AGAAAGAAAATGCTCTAGGCA	0.373																																						ENST00000335351.3																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9						c.(895-897)gcA>gcG		transcription factor-like 5 (basic helix-loop-helix)							125	127	127					20																	61490813		2203	4300	6503	SO:0001819	synonymous_variant	10732				cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:61490813T>C	AB012124	CCDS13506.1	20q13.33	2013-09-19			ENSG00000101190	ENSG00000101190		"Basic helix-loop-helix proteins"	11646	protein-coding gene	gene with protein product	"HPV-16 E2 binding protein 1"	604745				9763657	Standard	XM_005260185		Approved	Figlb, E2BP-1, CHA, bHLHe82	uc002ydp.3	Q9UL49	OTTHUMG00000032939	ENST00000335351.3:c.897A>G	20.37:g.61490813T>C						TCFL5_ENST00000217162.5_Silent_p.A251A	p.A299A	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN			3	989	-	Breast(26;5.68e-08)		299					O94771|Q9BYW0	Silent	SNP	ENST00000335351.3	37	c.897A>G	CCDS13506.1																																																																																				0.373	TCFL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080079.2	NM_006602		25	66	0	0	0	1	0	25	66					C	61490813	T	C	61490813	2	2	462	1	0	0	0	0	0	0	0	1	15696	1451	51	3		3	TCFL5	20	61490813	Silent	SNP	T	TCGA-IM-A420-01A-11D-A23M-08		61490813	1534707	10	9478											
TCHH	7062	broad.mit.edu	37	chr1	152084453	152084454	+	In_Frame_Ins	INS	-	-	CTC													ctcagctgctgctcgcgcctINScagctgctgctcgcgcctca							TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr1:152084453_152084454insCTC	ENST00000368804.1	-	2	1238_1239	c.1239_1240insGAG	c.(1237-1242)ctgagg>ctgGAGagg	p.413_414LR>LER		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	413	8 X 6 AA tandem repeats of R-R-E-Q-Q-L.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tgctcgcgcctcagctgctgct	0.708																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(1237-1242)ctggcg>ctGAGggcg		trichohyalin																																				SO:0001652	inframe_insertion	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152084453_152084454insCTC	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1239_1240insGAG	1.37:g.152084453_152084454insCTC	ENSP00000357794:p.Leu413_Arg414insGlu						p.413_414LA>LRA	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1238_1239	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		413			8 X 6 AA tandem repeats of R-R-E-Q-Q-L.		Q5VUI3	In_Frame_Ins	INS	ENST00000368804.1	37	c.1239_1240insGAG	CCDS41396.1																																																																																				0.708	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		9	29						9	29	---	---	---	---	CTC	152084454	-	CTC	152084453	7	5	463	1	0	1	1	0	0	0	0	0	15697	1550	54	0	4595	0	TCHH	1	152084453	In_Frame_Ins	INS	-	TCGA-IM-A4EB-01A-11D-A257-08		152084453	97166168	1	9479											
CADPS	8618	broad.mit.edu	37	chr3	62570955	62570955	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggagactgtcattttgtgCcactctgactgtttggggct	12	8	2	2			TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr3:62570955C>T	ENST00000383710.4	-	8	1831	c.1482G>A	c.(1480-1482)tgG>tgA	p.W494*	CADPS_ENST00000283269.9_Nonsense_Mutation_p.W494*|CADPS_ENST00000357948.3_Nonsense_Mutation_p.W494*	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	494					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TCATTTTGTGCCACTCTGACT	0.438																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(1480-1482)tgG>tgA		Ca++-dependent secretion activator							208	203	205					3																	62570955		2203	4300	6503	SO:0001587	stop_gained	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62570955C>T	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"Pleckstrin homology (PH) domain containing"	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1482G>A	3.37:g.62570955C>T	ENSP00000373215:p.Trp494*					CADPS_ENST00000283269.9_Nonsense_Mutation_p.W494*|CADPS_ENST00000357948.3_Nonsense_Mutation_p.W494*	p.W494*	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	8	1831	-		Lung SC(41;0.0452)	494					A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Nonsense_Mutation	SNP	ENST00000383710.4	37	c.1482G>A	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	C	44	10.569055	0.99429	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269	.	.	.	5.84	5.84	0.93424	.	0.074857	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.1434	0.98067	0.0:1.0:0.0:0.0	.	.	.	.	X	494	.	ENSP00000283269:W494X	W	-	3	0	CADPS	62545995	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.929000	0.40114	2.769000	0.95229	0.563000	0.77884	TGG		0.438	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		4	138	0	0	0	1	0	4	138					T	62570955	C	T	62570955	4	4	463	1	0	0	0	0	0	1	0	0	2570	740	26	2	2744	2	CADPS	3	62570955	Nonsense_Mutation	SNP	C	TCGA-IM-A4EB-01A-11D-A257-08		62570955	135451475	2	9480											
FAT2	2196	broad.mit.edu	37	chr5	150924510	150924510	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgtcattgacatcctcaaTagagactctgaccaaaccct	5	12	3	3			TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr5:150924510T>C	ENST00000261800.5	-	9	6190	c.6178A>G	c.(6178-6180)Att>Gtt	p.I2060V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2060	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACATCCTCAATAGAGACTCTG	0.522																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(6178-6180)Att>Gtt		FAT atypical cadherin 2							93	96	95					5																	150924510		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150924510T>C	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.6178A>G	5.37:g.150924510T>C	ENSP00000261800:p.Ile2060Val						p.I2060V	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	6190	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2060			Cadherin 17.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.6178A>G	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	T	0.025	-1.383168	0.01194	.	.	ENSG00000086570	ENST00000261800	T	0.35048	1.33	5.39	1.02	0.19986	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.243493	0.28376	N	0.015565	T	0.13372	0.0324	N	0.04203	-0.255	0.22701	N	0.998831	B	0.02656	0.0	B	0.09377	0.004	T	0.33497	-0.9866	10	0.02654	T	1	.	11.1293	0.48336	0.0:0.6955:0.0:0.3045	.	2060	Q9NYQ8	FAT2_HUMAN	V	2060	ENSP00000261800:I2060V	ENSP00000261800:I2060V	I	-	1	0	FAT2	150904703	0.105000	0.21958	0.970000	0.41538	0.960000	0.62799	0.441000	0.21611	0.258000	0.21686	-0.366000	0.07423	ATT		0.522	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		5	123	0	0	0	1	0	5	123					C	150924510	T	C	150924510	3	2	463	1	0	0	0	0	1	0	0	0	5690	1406	49	3	6931	3	FAT2	5	150924510	Missense_Mutation	SNP	T	TCGA-IM-A4EB-01A-11D-A257-08		150924510	29990750	3	9481											
ADAMTS2	9509	broad.mit.edu	37	chr5	178555048	178555048	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccaggacgttgttgtcgtcGacattcagtgagtcctcatg	11	10	2	1			TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr5:178555048G>A	ENST00000251582.7	-	17	2630	c.2529C>T	c.(2527-2529)gtC>gtT	p.V843V		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	843	Spacer.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TGTTGTCGTCGACATTCAGTG	0.582																																						ENST00000251582.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(2527-2529)gtC>gtT		ADAM metallopeptidase with thrombospondin type 1 motif, 2							204	163	177					5																	178555048		2203	4300	6503	SO:0001819	synonymous_variant	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178555048G>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2529C>T	5.37:g.178555048G>A							p.V843V	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	17	2630	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	843			Spacer.			Silent	SNP	ENST00000251582.7	37	c.2529C>T	CCDS4444.1																																																																																				0.582	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		12	90	0	0	0	1	0	12	90					A	178555048	G	A	178555048	2	1	463	1	0	0	0	0	0	0	0	1	265	1045	37	1		1	ADAMTS2	5	178555048	Silent	SNP	G	TCGA-IM-A4EB-01A-11D-A257-08	27630538	178555048	2360212	4	9482											
SAMD3	154075	broad.mit.edu	37	chr6	130505712	130505712	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agggaaactctggtaaaacaTaggacttcgtccactgtaat	9	8	1	0	rs146866847	byFrequency	TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr6:130505712T>A	ENST00000368134.2	-	8	1048	c.440A>T	c.(439-441)tAt>tTt	p.Y147F	SAMD3_ENST00000324172.6_Missense_Mutation_p.Y147F|SAMD3_ENST00000532763.1_Missense_Mutation_p.Y145F|SAMD3_ENST00000439090.2_Missense_Mutation_p.Y147F|SAMD3_ENST00000457563.2_Missense_Mutation_p.Y171F|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000437477.2_Missense_Mutation_p.Y147F	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	147										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TGGTAAAACATAGGACTTCGT	0.388																																						ENST00000532763.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29						c.(433-435)tAt>tTt		sterile alpha motif domain containing 3							119	106	110					6																	130505712		2203	4300	6503	SO:0001583	missense	154075							g.chr6:130505712T>A	AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"Sterile alpha motif (SAM) domain containing"	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.440A>T	6.37:g.130505712T>A	ENSP00000357116:p.Tyr147Phe					SAMD3_ENST00000368134.2_Missense_Mutation_p.Y147F|SAMD3_ENST00000457563.2_Missense_Mutation_p.Y171F|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000439090.2_Missense_Mutation_p.Y147F|SAMD3_ENST00000324172.6_Missense_Mutation_p.Y147F|SAMD3_ENST00000437477.2_Missense_Mutation_p.Y147F	p.Y145F			Q8N6K7	SAMD3_HUMAN		GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)	5	563	-			147					B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Missense_Mutation	SNP	ENST00000368134.2	37	c.434A>T	CCDS34539.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.386947	0.82902	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477;ENST00000532763;ENST00000324172;ENST00000532309;ENST00000531544;ENST00000529723	T;T;T;T;T;T;T;T;T	0.62232	0.82;0.8;0.82;0.82;0.47;0.22;0.23;0.04;0.17	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000007	T	0.69151	0.3079	L	0.53729	1.69	0.42695	D	0.993596	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.80764	0.991;0.991;0.994;0.991	T	0.74115	-0.3769	10	0.87932	D	0	.	14.4651	0.67477	0.0:0.0:0.0:1.0	.	171;146;147;147	B4DY20;Q4VXD9;Q8N6K7-2;Q8N6K7	.;.;.;SAMD3_HUMAN	F	147;171;147;147;145;147;146;147;144	ENSP00000357116:Y147F;ENSP00000402092:Y171F;ENSP00000403565:Y147F;ENSP00000391163:Y147F;ENSP00000436088:Y145F;ENSP00000324874:Y147F;ENSP00000436115:Y146F;ENSP00000435875:Y147F;ENSP00000434139:Y144F	ENSP00000324874:Y147F	Y	-	2	0	SAMD3	130547405	1.000000	0.71417	0.939000	0.37840	0.960000	0.62799	5.169000	0.64984	2.149000	0.67028	0.533000	0.62120	TAT		0.388	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552		20	31	0	0	0	1	0	20	31					A	130505712	T	A	130505712	3	1	463	1	0	0	0	0	1	0	0	0	13820	1406	49	5	1166	5	SAMD3	6	130505712	Missense_Mutation	SNP	T	TCGA-IM-A4EB-01A-11D-A257-08		130505712	40609355	5	9483											
FAM3C	10447	broad.mit.edu	37	chr7	121011438	121011438	+	Frame_Shift_Del	DEL	G	G	-													caaaatgcttctcagggcaaGcttttgagatcccacactta							TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr7:121011438delG	ENST00000359943.3	-	5	401	c.188delC	c.(187-189)gctfs	p.A63fs		NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C	63					multicellular organismal development (GO:0007275)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	cytokine activity (GO:0005125)			kidney(1)|lung(8)	9	all_neural(327;0.117)					CTCAGGGCAAGCTTTTGAGAT	0.418																																						ENST00000359943.3																			0				kidney(1)|lung(8)	9						c.(187-189)gtfs		family with sequence similarity 3, member C							95	92	93					7																	121011438		2203	4300	6503	SO:0001589	frameshift_variant	10447				multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity	g.chr7:121011438delG	D87120	CCDS5782.1	7q22.1-q31.1	2014-08-14			ENSG00000196937	ENSG00000196937			18664	protein-coding gene	gene with protein product	"predicted osteoblast protein", "interleukin-like EMT inducer", "interleukin-like epithelial-mesenchymal transition inducer"	608618				12160727	Standard	NM_014888		Approved	GS3876, ILEI	uc010lkm.3	Q92520	OTTHUMG00000156979	ENST00000359943.3:c.188delC	7.37:g.121011438delG	ENSP00000353025:p.Ala63fs						p.A63fs	NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN			5	401	-	all_neural(327;0.117)		63					A6NDN2|A8K3R7	Frame_Shift_Del	DEL	ENST00000359943.3	37	c.188delC	CCDS5782.1																																																																																				0.418	FAM3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346945.1	NM_001040020		14	102						14	102	---	---	---	---	-	121011438	G	-	121011438	7	5	463	1	0	1	0	1	0	0	0	0	5558	971	34	0	519	0	FAM3C	7	121011438	Frame_Shift_Del	DEL	G	TCGA-IM-A4EB-01A-11D-A257-08		121011438	38127225	6	9484											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		28	66	0	0	0	1	0	28	66					T	140453136	A	T	140453136	3	4	463	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-IM-A4EB-01A-11D-A257-08	19441698	140453136	18685527	7	9485											
GBA2	57704	broad.mit.edu	37	chr9	35737239	35737239	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttagtcctgtgccctgtTtgacttttggccaggaggcc	11	12	0	1			TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr9:35737239T>C	ENST00000378103.3	-	17	3234	c.2711A>G	c.(2710-2712)aAa>aGa	p.K904R	GBA2_ENST00000467252.1_5'Flank|GBA2_ENST00000378094.4_3'UTR|GBA2_ENST00000545786.1_Missense_Mutation_p.K910R|GBA2_ENST00000378088.1_3'UTR	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	904					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)			TGTGCCCTGTTTGACTTTTGG	0.572																																						ENST00000378103.3																			0				NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21						c.(2710-2712)aAa>aGa		glucosidase, beta (bile acid) 2							116	100	106					9																	35737239		2203	4300	6503	SO:0001583	missense	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.chr9:35737239T>C	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.2711A>G	9.37:g.35737239T>C	ENSP00000367343:p.Lys904Arg					GBA2_ENST00000378094.4_3'UTR|GBA2_ENST00000545786.1_Missense_Mutation_p.K910R|GBA2_ENST00000378088.1_3'UTR	p.K904R	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		17	3234	-	all_epithelial(49;0.167)		904					D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	c.2711A>G	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	T	10.89	1.479787	0.26511	.	.	ENSG00000070610	ENST00000378103;ENST00000545786	.	.	.	5.92	-4.77	0.03219	.	3.067170	0.00868	N	0.001994	T	0.18841	0.0452	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.07578	-1.0765	9	0.16896	T	0.51	5.0344	2.6012	0.04867	0.1265:0.2738:0.4079:0.1918	.	910;904	F5H7P6;Q9HCG7	.;GBA2_HUMAN	R	904;910	.	ENSP00000367343:K904R	K	-	2	0	GBA2	35727239	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	0.070000	0.14573	-0.744000	0.04778	0.533000	0.62120	AAA		0.572	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		30	74	0	0	0	1	0	30	74					C	35737239	T	C	35737239	3	2	463	1	0	0	0	0	1	0	0	0	6267	1841	64	3	76	3	GBA2	9	35737239	Missense_Mutation	SNP	T	TCGA-IM-A4EB-01A-11D-A257-08		35737239	105476192	8	9486											
ANXA7	310	broad.mit.edu	37	chr10	75138726	75138726	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcatctgtgccagcacctttCatagcatagtagagcctctc	7	13	4	1			TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr10:75138726C>A	ENST00000372921.5	-	12	1277	c.1221G>T	c.(1219-1221)atG>atT	p.M407I	ANXA7_ENST00000535178.1_Missense_Mutation_p.M277I|RP11-537A6.9_ENST00000427492.1_RNA	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	429					autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular calcium ion homeostasis (GO:0006874)|cellular water homeostasis (GO:0009992)|epithelial cell differentiation (GO:0030855)|hemostasis (GO:0007599)|membrane fusion (GO:0061025)|negative regulation of gene expression (GO:0010629)|regulation of cell shape (GO:0008360)|response to calcium ion (GO:0051592)|response to organic cyclic compound (GO:0014070)|response to salt stress (GO:0009651)|social behavior (GO:0035176)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|integrin binding (GO:0005178)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					CAGCACCTTTCATAGCATAGT	0.512																																						ENST00000372921.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(1219-1221)atG>atT		annexin A7							108	82	91					10																	75138726		2203	4300	6503	SO:0001583	missense	310						calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding	g.chr10:75138726C>A	J04543	CCDS7325.1, CCDS7326.1	10q22.2	2005-11-09			ENSG00000138279	ENSG00000138279		"Annexins"	545	protein-coding gene	gene with protein product		186360		ANX7		7515686	Standard	NM_001156		Approved		uc001jtz.2	P20073	OTTHUMG00000018463	ENST00000372921.5:c.1221G>T	10.37:g.75138726C>A	ENSP00000362012:p.Met407Ile					ANXA7_ENST00000535178.1_Missense_Mutation_p.M277I	p.M407I	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN			12	1277	-	Prostate(51;0.0119)		429					Q5F2H3|Q5T0M6|Q5T0M7	Missense_Mutation	SNP	ENST00000372921.5	37	c.1221G>T	CCDS7325.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.859396	0.91433	.	.	ENSG00000138279	ENST00000372921;ENST00000372919;ENST00000535178	T;T;T	0.05513	3.43;3.43;3.43	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.18509	0.0444	L	0.39245	1.2	0.58432	D	0.999998	D;D;D	0.65815	0.995;0.993;0.987	D;D;D	0.69479	0.964;0.94;0.947	T	0.00038	-1.2247	10	0.62326	D	0.03	.	17.7874	0.88542	0.0:1.0:0.0:0.0	.	407;407;429	Q53HM8;P20073-2;P20073	.;.;ANXA7_HUMAN	I	407;429;277	ENSP00000362012:M407I;ENSP00000362010:M429I;ENSP00000442864:M277I	ENSP00000362010:M429I	M	-	3	0	ANXA7	74808732	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.414000	0.73318	2.801000	0.96364	0.655000	0.94253	ATG		0.512	ANXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048646.2	NM_001156		13	19	1	0	1.5739e-10	1	1.62159e-10	13	19					A	75138726	C	A	75138726	3	1	463	1	0	0	0	0	1	0	0	0	723	826	29	4	187	4	ANXA7	10	75138726	Missense_Mutation	SNP	C	TCGA-IM-A4EB-01A-11D-A257-08		75138726	60396021	9	9487											
BUB3	9184	broad.mit.edu	37	chr10	124914499	124914499	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggcatctcctccgtgaagttCagccccaacacctcccagtt	7	17	2	1			TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr10:124914499C>T	ENST00000368865.4	+	2	275	c.66C>T	c.(64-66)ttC>ttT	p.F22F	BUB3_ENST00000368859.2_Silent_p.F22F|BUB3_ENST00000538238.1_Intron|BUB3_ENST00000368858.5_Silent_p.F22F	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN	BUB3 mitotic checkpoint protein	22					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|regulation of chromosome segregation (GO:0051983)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly checkpoint (GO:0071173)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				CCGTGAAGTTCAGCCCCAACA	0.607																																					GBM(161;1111 1985 17553 20049 26037)	ENST00000368865.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9						c.(64-66)ttC>ttT		BUB3 mitotic checkpoint protein							135	109	118					10																	124914499		2203	4300	6503	SO:0001819	synonymous_variant	9184				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	condensed chromosome kinetochore|cytosol|nucleus	protein binding	g.chr10:124914499C>T	AF053304	CCDS7635.1, CCDS31306.1	10q24	2013-01-17	2013-01-17		ENSG00000154473	ENSG00000154473		"WD repeat domain containing"	1151	protein-coding gene	gene with protein product		603719	"BUB3 (budding uninhibited by benzimidazoles 3, yeast) homolog", "budding uninhibited by benzimidazoles 3 homolog (yeast)"			9660858	Standard	NM_004725		Approved	BUB3L	uc001lhe.2	O43684	OTTHUMG00000019197	ENST00000368865.4:c.66C>T	10.37:g.124914499C>T						BUB3_ENST00000368859.2_Silent_p.F22F|BUB3_ENST00000538238.1_Intron|BUB3_ENST00000368858.5_Silent_p.F22F	p.F22F	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN			2	275	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	22					A6NJ42|B2R6E7|D3DRE9|O43685	Silent	SNP	ENST00000368865.4	37	c.66C>T	CCDS7635.1																																																																																				0.607	BUB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050835.1			7	144	0	0	0	1	0	7	144					T	124914499	C	T	124914499	2	4	463	1	0	0	0	0	0	0	0	1	1572	825	29	2		2	BUB3	10	124914499	Silent	SNP	C	TCGA-IM-A4EB-01A-11D-A257-08	49775773	124914499	10620248	10	9488											
OR10A7	121364	broad.mit.edu	37	chr12	55615287	55615287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgtgtctatgctacagaCagcttggatgatggcccttc	10	11	1	2	rs111283936	byFrequency	TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr12:55615287C>T	ENST00000326258.1	+	1	479	c.479C>T	c.(478-480)aCa>aTa	p.T160I		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						ATGCTACAGACAGCTTGGATG	0.483																																						ENST00000326258.1																			0				endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						c.(478-480)aCa>aTa		olfactory receptor, family 10, subfamily A, member 7							176	149	158					12																	55615287		2203	4300	6503	SO:0001583	missense	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55615287C>T	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"GPCR / Class A : Olfactory receptors"	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.479C>T	12.37:g.55615287C>T	ENSP00000326718:p.Thr160Ile						p.T160I	NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN			1	479	+			160					Q6IFD5|Q96R19	Missense_Mutation	SNP	ENST00000326258.1	37	c.479C>T	CCDS31815.1	.	.	.	.	.	.	.	.	.	.	c	13.23	2.175711	0.38413	.	.	ENSG00000179919	ENST00000326258	T	0.00245	8.45	3.39	2.49	0.30216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42420	D	0.000711	T	0.00356	0.0011	M	0.66378	2.025	0.09310	N	1	P	0.49358	0.923	P	0.59761	0.863	T	0.42816	-0.9429	10	0.56958	D	0.05	.	6.5874	0.22628	0.0:0.6871:0.0:0.3129	.	160	Q8NGE5	O10A7_HUMAN	I	160	ENSP00000326718:T160I	ENSP00000326718:T160I	T	+	2	0	OR10A7	53901554	0.000000	0.05858	0.998000	0.56505	0.975000	0.68041	0.027000	0.13621	0.778000	0.33520	0.637000	0.83480	ACA		0.483	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			4	106	0	0	0	1	0	4	106					T	55615287	C	T	55615287	3	4	463	1	0	0	0	0	1	0	0	0	10895	478	17	2	481	2	OR10A7	12	55615287	Missense_Mutation	SNP	C	TCGA-IM-A4EB-01A-11D-A257-08		55615287	78236608	11	9489											
DPY19L2	283417	broad.mit.edu	37	chr12	64055263	64055263	+	Splice_Site	DEL	T	T	-													agtatgaataataaagtcccTttttttaaaaaaagacatat					rs565018|rs202064990		TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr12:64055263delT	ENST00000324472.4	-	4	634		c.e4-2		RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)						multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		ATAAAGTCCCTTTTTTTAAAA	0.259																																						ENST00000324472.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.e4-2		dpy-19-like 2 (C. elegans)							42	44	43					12																	64055263		2197	4284	6481	SO:0001630	splice_region_variant	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:64055263delT		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"spermatogenesis associated 34"	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.451-2A>-	12.37:g.64055263delT						RP11-415I12.3_ENST00000509615.2_RNA		NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	4	634	-								A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Splice_Site	DEL	ENST00000324472.4	37		CCDS31851.1																																																																																				0.259	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812	Intron	7	39						7	39	---	---	---	---	-	64055263	T	-	64055263	8	5	463	1	0	1	0	1	0	0	1	0	4741	1623	56	0	1903	0	DPY19L2	12	64055263	Splice_Site	DEL	T	TCGA-IM-A4EB-01A-11D-A257-08	8439976	64055263	69796632	12	9490											
RAB3IP	117177	broad.mit.edu	37	chr12	70188996	70188996	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctccaacatcacctacgcagGagcctttgccaggtggaaag	10	13	1	0			TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr12:70188996G>T	ENST00000247833.7	+	6	1136	c.760G>T	c.(760-762)Gag>Tag	p.E254*	RAB3IP_ENST00000550536.1_Nonsense_Mutation_p.E270*|RAB3IP_ENST00000378815.6_Nonsense_Mutation_p.E254*|RAB3IP_ENST00000483530.2_Nonsense_Mutation_p.E254*|RAB3IP_ENST00000550847.1_5'Flank|RAB3IP_ENST00000362025.5_Nonsense_Mutation_p.E270*|RAB3IP_ENST00000551641.1_Nonsense_Mutation_p.E48*|RAB3IP_ENST00000325555.9_Nonsense_Mutation_p.E48*|RAB3IP_ENST00000553099.1_Nonsense_Mutation_p.E48*					RAB3A interacting protein											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			ACCTACGCAGGAGCCTTTGCC	0.433																																						ENST00000550536.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(808-810)Gag>Tag		RAB3A interacting protein							103	100	101					12																	70188996		2203	4300	6503	SO:0001587	stop_gained	117177				cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding	g.chr12:70188996G>T		CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328			16508	protein-coding gene	gene with protein product	"rabin3"	608686					Standard	NM_175623		Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000247833.7:c.760G>T	12.37:g.70188996G>T	ENSP00000247833:p.Glu254*					RAB3IP_ENST00000483530.2_Nonsense_Mutation_p.E254*|RAB3IP_ENST00000553099.1_Nonsense_Mutation_p.E48*|RAB3IP_ENST00000551641.1_Nonsense_Mutation_p.E48*|RAB3IP_ENST00000247833.7_Nonsense_Mutation_p.E254*|RAB3IP_ENST00000378815.6_Nonsense_Mutation_p.E254*|RAB3IP_ENST00000362025.5_Nonsense_Mutation_p.E270*|RAB3IP_ENST00000325555.9_Nonsense_Mutation_p.E48*	p.E270*	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)		6	1265	+	Esophageal squamous(21;0.187)		270						Nonsense_Mutation	SNP	ENST00000247833.7	37	c.808G>T	CCDS8995.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.964139|6.964139	0.97967|0.97967	.|.	.|.	ENSG00000127328|ENSG00000127328	ENST00000247833;ENST00000378815;ENST00000483530;ENST00000325555;ENST00000550536;ENST00000362025;ENST00000551641;ENST00000553099|ENST00000550647	.|.	.|.	.|.	5.84|5.84	4.94|4.94	0.65067|0.65067	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.66356	.|0.2781	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69154	.|-0.5220	.|3	0.22109|.	T|.	0.4|.	.|.	15.3509|15.3509	0.74384|0.74384	0.0679:0.0:0.9321:0.0|0.0679:0.0:0.9321:0.0	.|.	.|.	.|.	.|.	X|V	254;254;254;48;270;270;48;48|143	.|.	ENSP00000247833:E254X|.	E|G	+|+	1|2	0|0	RAB3IP|RAB3IP	68475263|68475263	1.000000|1.000000	0.71417|0.71417	0.966000|0.966000	0.40874|0.40874	0.826000|0.826000	0.46750|0.46750	5.043000|5.043000	0.64208|0.64208	2.768000|2.768000	0.95171|0.95171	0.650000|0.650000	0.86243|0.86243	GAG|GGA		0.433	RAB3IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280671.2	NM_022456		13	51	1	0	1.5842e-08	1	1.5842e-08	13	51					T	70188996	G	T	70188996	4	4	463	1	0	0	0	0	0	1	0	0	12938	1175	41	4	830	4	RAB3IP	12	70188996	Nonsense_Mutation	SNP	G	TCGA-IM-A4EB-01A-11D-A257-08	6133733	70188996	63662899	13	9491											
DGKH	160851	broad.mit.edu	37	chr13	42772705	42772705	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatccttttggtgccacgccGtttattgacccggatctaga	10	11	1	2			TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr13:42772705G>A	ENST00000337343.4	+	18	2280	c.2259G>A	c.(2257-2259)ccG>ccA	p.P753P	DGKH_ENST00000538674.1_Silent_p.P508P|DGKH_ENST00000261491.5_Silent_p.P753P|DGKH_ENST00000379274.2_Silent_p.P617P|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000540693.1_Silent_p.P753P|DGKH_ENST00000536612.1_Silent_p.P617P	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	753					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GTGCCACGCCGTTTATTGACC	0.378																																						ENST00000379274.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1849-1851)ccG>ccA		diacylglycerol kinase, eta							146	135	139					13																	42772705		2203	4300	6503	SO:0001819	synonymous_variant	160851				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr13:42772705G>A	AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.2259G>A	13.37:g.42772705G>A						DGKH_ENST00000337343.4_Silent_p.P753P|DGKH_ENST00000261491.4_Silent_p.P753P|DGKH_ENST00000540693.1_Silent_p.P753P|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000538674.1_Silent_p.P508P|DGKH_ENST00000536612.1_Silent_p.P617P	p.P617P			Q86XP1	DGKH_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)	18	2280	+		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)	753					A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Silent	SNP	ENST00000337343.4	37	c.1851G>A	CCDS9381.1																																																																																				0.378	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009		5	46	0	0	0	1	0	5	46					A	42772705	G	A	42772705	2	1	463	1	0	0	0	0	0	0	0	1	4470	1132	40	1		1	DGKH	13	42772705	Silent	SNP	G	TCGA-IM-A4EB-01A-11D-A257-08		42772705	72397173	14	9492											
C14orf4	64207	broad.mit.edu	37	chr14	77493794	77493795	+	In_Frame_Ins	INS	-	-	TGC													gctgctgctgctgctgctgtINStgctgctgctgctgctgctg					rs377151545|rs28718623|rs71125518	byFrequency	TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr14:77493794_77493795insTGC	ENST00000238647.3	-	1	1239_1240	c.341_342insGCA	c.(340-342)caa>caGCAa	p.114_114Q>QQ		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	114	Poly-Gln.				development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						gctgctgctgttgctgctgctg	0.698																																						ENST00000238647.3																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						c.(340-342)cca>cGCAca		interferon regulatory factor 2 binding protein-like																																				SO:0001652	inframe_insertion	64207					nucleus		g.chr14:77493794_77493795insTGC	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"enhanced at puberty 1"	611720	"chromosome 14 open reading frame 4"	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.339_341dupGCA	14.37:g.77493801_77493803dupTGC	ENSP00000238647:p.Gln127dup						p.114_114P>RT	NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN			1	1239_1240	-			114			Poly-Gln.		Q8NDQ2|Q96JG2|Q9H3I7	In_Frame_Ins	INS	ENST00000238647.3	37	c.341_342insGCA	CCDS9854.1																																																																																				0.698	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		3	6						3	6	---	---	---	---	TGC	77493795	-	TGC	77493794	7	5	463	1	0	1	1	0	0	0	0	0	1773	1722	60	0	2052	0	C14orf4	14	77493794	In_Frame_Ins	INS	-	TCGA-IM-A4EB-01A-11D-A257-08		77493794	29855746	15	9493											
INF2	64423	broad.mit.edu	37	chr14	105173320	105173320	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacctggagcccaccctccGctccagccagctgctctggg	11	19	1	0			TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr14:105173320G>A	ENST00000392634.4	+	7	1029	c.917G>A	c.(916-918)cGc>cAc	p.R306H	INF2_ENST00000330634.7_Missense_Mutation_p.R306H	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	306	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CCCACCCTCCGCTCCAGCCAG	0.721																																						ENST00000392634.4																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(916-918)cGc>cAc		inverted formin, FH2 and WH2 domain containing							10	14	13					14																	105173320		1952	4123	6075	SO:0001583	missense	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105173320G>A	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"inverted formin 2"	610982	"chromosome 14 open reading frame 151", "chromosome 14 open reading frame 173"	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.917G>A	14.37:g.105173320G>A	ENSP00000376410:p.Arg306His					INF2_ENST00000330634.7_Missense_Mutation_p.R306H	p.R306H	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	7	1029	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	306			GBD/FH3.		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation	SNP	ENST00000392634.4	37	c.917G>A	CCDS9989.2	.	.	.	.	.	.	.	.	.	.	G	14.34	2.505769	0.44558	.	.	ENSG00000203485	ENST00000330634;ENST00000392634	D;D	0.87103	-2.21;-2.21	4.79	-1.49	0.08718	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	.	.	.	.	T	0.74268	0.3694	L	0.36672	1.1	0.18873	N	0.999988	B;P	0.35174	0.433;0.488	B;B	0.29663	0.063;0.105	T	0.59757	-0.7394	9	0.18710	T	0.47	.	5.7534	0.18160	0.3277:0.3877:0.2846:0.0	.	306;306	Q27J81-2;Q27J81	.;INF2_HUMAN	H	306	ENSP00000376406:R306H;ENSP00000376410:R306H	ENSP00000376406:R306H	R	+	2	0	INF2	104244365	0.000000	0.05858	0.002000	0.10522	0.928000	0.56348	-0.039000	0.12124	-0.177000	0.10690	0.650000	0.86243	CGC		0.721	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		8	14	0	0	0	1	0	8	14					A	105173320	G	A	105173320	3	1	463	1	0	0	0	0	1	0	0	0	7734	1087	38	1	943	1	INF2	14	105173320	Missense_Mutation	SNP	G	TCGA-IM-A4EB-01A-11D-A257-08	27679526	105173320	2176220	16	9494											
HSD11B2	3291	broad.mit.edu	37	chr16	67470629	67470629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcactcgctacgcctggCcatgtccgacctcaccccag	8	20	1	0			TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr16:67470629C>T	ENST00000326152.5	+	5	1073	c.941C>T	c.(940-942)gCc>gTc	p.A314V	ATP6V0D1_ENST00000567694.1_5'Flank	NM_000196.3	NP_000187.3	P80365	DHI2_HUMAN	hydroxysteroid (11-beta) dehydrogenase 2	314					female pregnancy (GO:0007565)|glucocorticoid biosynthetic process (GO:0006704)|regulation of blood volume by renal aldosterone (GO:0002017)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)	11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity (GO:0003845)|NAD binding (GO:0051287)|steroid binding (GO:0005496)			breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)		CTACGCCTGGCCATGTCCGAC	0.637																																						ENST00000326152.5																			0				breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1)	8						c.(940-942)gCc>gTc		hydroxysteroid (11-beta) dehydrogenase 2	NADH(DB00157)						108	93	98					16																	67470629		2198	4300	6498	SO:0001583	missense	3291				glucocorticoid biosynthetic process	endoplasmic reticulum|microsome		g.chr16:67470629C>T	U14631	CCDS10837.1	16q22	2011-09-14			ENSG00000176387	ENSG00000176387	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5209	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 9C, member 3"	614232				7859916, 8611140, 19027726	Standard	NM_000196		Approved	SDR9C3	uc002etd.3	P80365	OTTHUMG00000137507	ENST00000326152.5:c.941C>T	16.37:g.67470629C>T	ENSP00000316786:p.Ala314Val						p.A314V	NM_000196.3	NP_000187.3	P80365	DHI2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)	5	1073	+		Ovarian(137;0.0563)	314					A7LB28|C5HTY7|Q13194|Q6P2G9|Q8N439|Q96QN8|Q9UC50|Q9UC51|Q9UCW5|Q9UCW6|Q9UCW7|Q9UCW8	Missense_Mutation	SNP	ENST00000326152.5	37	c.941C>T	CCDS10837.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.180562	0.57800	.	.	ENSG00000176387	ENST00000326152	D	0.89485	-2.52	5.03	5.03	0.67393	NAD(P)-binding domain (1);	0.102221	0.64402	D	0.000003	D	0.91831	0.7415	M	0.80183	2.485	0.80722	D	1	P	0.34662	0.462	B	0.43445	0.42	D	0.92278	0.5831	10	0.56958	D	0.05	.	16.9207	0.86163	0.0:1.0:0.0:0.0	.	314	P80365	DHI2_HUMAN	V	314	ENSP00000316786:A314V	ENSP00000316786:A314V	A	+	2	0	HSD11B2	66028130	1.000000	0.71417	0.029000	0.17559	0.019000	0.09904	4.605000	0.61119	2.332000	0.79248	0.563000	0.77884	GCC		0.637	HSD11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268826.3	NM_000196		4	143	0	0	0	1	0	4	143					T	67470629	C	T	67470629	3	4	463	1	0	0	0	0	1	0	0	0	7377	739	26	2	959	2	HSD11B2	16	67470629	Missense_Mutation	SNP	C	TCGA-IM-A4EB-01A-11D-A257-08		67470629	22884124	17	9495											
DVL2	1856	broad.mit.edu	37	chr17	7129573	7129573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggactcgggggcccgctcctCgggcctccccgtgcgccctg	15	19	0	0			TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr17:7129573C>T	ENST00000005340.5	-	15	2104	c.1822G>A	c.(1822-1824)Gag>Aag	p.E608K	DVL2_ENST00000574642.1_5'Flank|DVL2_ENST00000575458.1_Missense_Mutation_p.E602K|MIR324_ENST00000362183.1_RNA	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	608					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						GCCCGCTCCTCGGGCCTCCCC	0.716																																						ENST00000005340.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						c.(1822-1824)Gag>Aag		dishevelled segment polarity protein 2							20	26	24					17																	7129573		2187	4262	6449	SO:0001583	missense	1856				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity	g.chr17:7129573C>T	BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"Dishevelled homologs"	3086	protein-coding gene	gene with protein product		602151	"dishevelled 2 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 2 (Drosophila)"			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.1822G>A	17.37:g.7129573C>T	ENSP00000005340:p.Glu608Lys					DVL2_ENST00000575458.1_Missense_Mutation_p.E602K	p.E608K	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN			15	2104	-			608					D3DTN3|Q53XM0	Missense_Mutation	SNP	ENST00000005340.5	37	c.1822G>A	CCDS11091.1	.	.	.	.	.	.	.	.	.	.	C	9.473	1.096130	0.20552	.	.	ENSG00000004975	ENST00000005340	T	0.03889	3.77	5.59	5.59	0.84812	Dishevelled C-terminal (1);	0.363596	0.27064	N	0.021109	T	0.02688	0.0081	N	0.10916	0.065	0.31012	N	0.719083	P;P	0.38110	0.618;0.618	B;B	0.31290	0.127;0.127	T	0.25363	-1.0134	10	0.05959	T	0.93	-22.8647	17.0795	0.86594	0.0:1.0:0.0:0.0	.	602;608	B4DLQ0;O14641	.;DVL2_HUMAN	K	608	ENSP00000005340:E608K	ENSP00000005340:E608K	E	-	1	0	DVL2	7070297	0.797000	0.28877	1.000000	0.80357	0.968000	0.65278	2.131000	0.42074	2.630000	0.89119	0.655000	0.94253	GAG		0.716	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422		35	81	0	0	0	1	0	35	81					T	7129573	C	T	7129573	3	4	463	1	0	0	0	0	1	0	0	0	4836	893	31	1	392	1	DVL2	17	7129573	Missense_Mutation	SNP	C	TCGA-IM-A4EB-01A-11D-A257-08		7129573	74065637	18	9496											
AP2B1	163	broad.mit.edu	37	chr17	33953801	33953801	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccacttgtcactttgctgtCtggggagccagaagtgcagt	12	10	2	1			TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr17:33953801C>T	ENST00000262325.7	+	7	1431	c.878C>T	c.(877-879)tCt>tTt	p.S293F	AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000537622.2_Missense_Mutation_p.S293F|AP2B1_ENST00000312678.8_Missense_Mutation_p.S293F|AP2B1_ENST00000589344.1_Missense_Mutation_p.S293F|AP2B1_ENST00000592545.1_Missense_Mutation_p.S255F|AP2B1_ENST00000538556.1_Missense_Mutation_p.S236F	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	293					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		ACTTTGCTGTCTGGGGAGCCA	0.408																																						ENST00000262325.7																			0				NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(877-879)tCt>tTt		adaptor-related protein complex 2, beta 1 subunit							177	183	181					17																	33953801		2203	4300	6503	SO:0001583	missense	163				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	g.chr17:33953801C>T	M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.878C>T	17.37:g.33953801C>T	ENSP00000262325:p.Ser293Phe					AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000589344.1_Missense_Mutation_p.S293F|AP2B1_ENST00000538556.1_Missense_Mutation_p.S236F|AP2B1_ENST00000537622.2_Missense_Mutation_p.S293F|AP2B1_ENST00000592545.1_Missense_Mutation_p.S255F|AP2B1_ENST00000312678.8_Missense_Mutation_p.S293F	p.S293F	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	7	1431	+		Ovarian(249;0.17)	293					A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	ENST00000262325.7	37	c.878C>T	CCDS32622.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610234	0.87258	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622;ENST00000545922	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	5.62	5.62	0.85841	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56963	0.2021	H	0.95187	3.635	0.80722	D	1	D;D;D;D	0.89917	1.0;0.958;0.993;0.981	D;D;D;P	0.79784	0.993;0.935;0.932;0.794	T	0.70457	-0.4866	10	0.87932	D	0	-3.4641	18.6561	0.91455	0.0:1.0:0.0:0.0	.	30;255;293;293	F5GYG9;B4DWG4;P63010;P63010-2	.;.;AP2B1_HUMAN;.	F	293;293;236;293;30	ENSP00000262325:S293F;ENSP00000314414:S293F;ENSP00000440563:S236F;ENSP00000437413:S293F	ENSP00000262325:S293F	S	+	2	0	AP2B1	30977914	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.771000	0.85420	2.650000	0.89964	0.563000	0.77884	TCT		0.408	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			13	251	0	0	0	1	0	13	251					T	33953801	C	T	33953801	3	4	463	1	0	0	0	0	1	0	0	0	741	913	32	2	900	2	AP2B1	17	33953801	Missense_Mutation	SNP	C	TCGA-IM-A4EB-01A-11D-A257-08	26824228	33953801	47241409	19	9497											
RPL13A	23521	broad.mit.edu	37	chr19	49994080	49994080	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggccaggccgctctggacCgtctcaaggtgtttgacggc	15	12	2	1	rs569616137		TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr19:49994080C>T	ENST00000391857.4	+	5	377	c.301C>T	c.(301-303)Cgt>Tgt	p.R101C	SNORD32A_ENST00000364805.1_RNA|SNORD35A_ENST00000363389.1_RNA|RPL13A_ENST00000477613.2_3'UTR|SNORD33_ENST00000362761.1_RNA|SNORD34_ENST00000365633.1_RNA	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN	ribosomal protein L13a	101					cellular protein metabolic process (GO:0044267)|cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of formation of translation preinitiation complex (GO:1901194)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|GAIT complex (GO:0097452)|large ribosomal subunit (GO:0015934)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CGCTCTGGACCGTCTCAAGGT	0.607																																						ENST00000391857.4																			0				cervix(1)|endometrium(1)	2						c.(301-303)Cgt>Tgt		ribosomal protein L13a							63	59	60					19																	49994080		2203	4300	6503	SO:0001583	missense	23521				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome	g.chr19:49994080C>T	X56932	CCDS12768.1, CCDS74421.1	19q13.3	2011-04-06			ENSG00000142541	ENSG00000142541		"L ribosomal proteins"	10304	protein-coding gene	gene with protein product			"tissue specific transplantation antigen 1"	TSTA1			Standard	NM_012423		Approved	L13A	uc031rlt.1	P40429	OTTHUMG00000134289	ENST00000391857.4:c.301C>T	19.37:g.49994080C>T	ENSP00000375730:p.Arg101Cys					RPL13A_ENST00000477613.2_3'UTR	p.R101C	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)	5	377	+		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	101					A8K505	Missense_Mutation	SNP	ENST00000391857.4	37	c.301C>T	CCDS12768.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.349685	0.82132	.	.	ENSG00000142541	ENST00000391857;ENST00000396949	.	.	.	5.91	3.68	0.42216	Ribosomal protein L13, conserved site (1);Ribosomal protein L13 domain (2);	0.000000	0.64402	U	0.000001	T	0.61248	0.2332	M	0.89414	3.03	0.80722	D	1	P;P	0.43750	0.713;0.816	B;B	0.40285	0.253;0.325	T	0.68580	-0.5371	9	0.72032	D	0.01	.	8.5188	0.33262	0.1535:0.766:0.0:0.0805	.	101;101	Q5QTS3;P40429	.;RL13A_HUMAN	C	101	.	ENSP00000375730:R101C	R	+	1	0	RPL13A	54685892	0.998000	0.40836	0.999000	0.59377	0.969000	0.65631	2.275000	0.43399	1.509000	0.48786	0.655000	0.94253	CGT		0.607	RPL13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258989.1			13	94	0	0	0	1	0	13	94					T	49994080	C	T	49994080	3	4	463	1	0	0	0	0	1	0	0	0	13560	652	23	1	319	1	RPL13A	19	49994080	Missense_Mutation	SNP	C	TCGA-IM-A4EB-01A-11D-A257-08		49994080	9134903	20	9498											
SHANK1	50944	broad.mit.edu	37	chr19	51169909	51169932	+	In_Frame_Del	DEL	GCCGCAGGCCTCCGCTGGCTCCTA	GCCGCAGGCCTCCGCTGGCTCCTA	-													gagtcccccgctggggccagGccgcaggcctccgctggctc					rs574089146|rs541236639	byFrequency	TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr19:51169909_51169932delGCCGCAGGCCTCCGCTGGCTCCTA	ENST00000293441.1	-	22	5303_5326	c.5285_5308delTAGGAGCCAGCGGAGGCCTGCGGC	c.(5284-5310)ctaggagccagcggaggcctgcggcct>cct	p.LGASGGLR1762del	SHANK1_ENST00000359082.3_In_Frame_Del_p.LGASGGLR1753del|SHANK1_ENST00000391814.1_In_Frame_Del_p.LGASGGLR1770del|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391813.1_In_Frame_Del_p.LGASGGLR1149del	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1762					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)		CTGGGGCCAGGCCGCAGGCCTCCGCTGGCTCCTAGCGCCCGGCC	0.71														6	0.00119808	0.0045	0	5008	,	,		14118	0		0	False		,,,				2504	0					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.(5284-5310)cct>c		SH3 and multiple ankyrin repeat domains 1																																				SO:0001651	inframe_deletion	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51169909_51169932delGCCGCAGGCCTCCGCTGGCTCCTA	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.5285_5308delTAGGAGCCAGCGGAGGCCTGCGGC	19.37:g.51169909_51169932delGCCGCAGGCCTCCGCTGGCTCCTA	ENSP00000293441:p.Leu1762_Arg1769del					SHANK1_ENST00000359082.3_In_Frame_Del_p.LGASGGLRP1753del|SHANK1_ENST00000391814.1_In_Frame_Del_p.LGASGGLRP1770del|SHANK1_ENST00000391813.1_In_Frame_Del_p.LGASGGLRP1149del|SYT3_ENST00000544769.1_Intron	p.LGASGGLRP1762del	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	22	5303_5326	-		all_neural(266;0.057)	1762					A8MXP5|B7WNY6|Q9NYW9	In_Frame_Del	DEL	ENST00000293441.1	37	c.5285_5308delTAGGAGCCAGCGGAGGCCTGCGGC	CCDS12799.1																																																																																				0.71	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		5	8						5	8	---	---	---	---	-	51169932	GCCGCAGGCCTCCGCTGGCTCCTA	-	51169909	7	5	463	1	0	1	0	1	0	0	0	0	14264	1203	42	0	1185	0	SHANK1	19	51169909	In_Frame_Del	DEL	GCCGCAGGCCTCCGCTGGCTCCTA	TCGA-IM-A4EB-01A-11D-A257-08	1175829	51169909	7959074	21	9499											
BAGE2	85319	broad.mit.edu	37	chr21	11058322	11058322	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtgcttacaaaatgcacatCgctgaaaggggtaaaggaga	12	6	0	2			TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr21:11058322C>T	ENST00000470054.1	-	0	325							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATGCACATCGCTGAAAGGG	0.383																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							92	70	77					21																	11058322		692	1591	2283			85319							g.chr21:11058322C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"cancer/testis antigen family 2, member 2"					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058322C>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	325	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.383	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		10	156	0	0	0	1	0	10	156					T	11058322	C	T	11058322	1	4	463	0	1	0	0	0	0	0	0	0	1292	898	31	1		1	BAGE2	21	11058322	RNA	SNP	C	TCGA-IM-A4EB-01A-11D-A257-08		11058322	37071573	22	9500											
ITGB2	3689	broad.mit.edu	37	chr21	46310012	46310012	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcacaggcactgcccgcagAcacagtcccccagccctgag	11	18	0	2			TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr21:46310012A>G	ENST00000397850.2	-	13	1990	c.1538T>C	c.(1537-1539)gTc>gCc	p.V513A	ITGB2_ENST00000302347.5_Missense_Mutation_p.V513A|ITGB2_ENST00000397852.1_Missense_Mutation_p.V513A|ITGB2_ENST00000355153.4_Missense_Mutation_p.V513A|ITGB2_ENST00000397857.1_Missense_Mutation_p.V513A|ITGB2_ENST00000397854.3_Missense_Mutation_p.V456A			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	513	Cysteine-rich tandem repeats.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CTGCCCGCAGACACAGTCCCC	0.612																																						ENST00000397850.2																			0				breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35						c.(1537-1539)gTc>gCc		integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	Simvastatin(DB00641)						114	79	91					21																	46310012		2201	4300	6501	SO:0001583	missense	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46310012A>G	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"CD molecules", "Complement system", "Integrins"	6155	protein-coding gene	gene with protein product		600065	"integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.1538T>C	21.37:g.46310012A>G	ENSP00000380948:p.Val513Ala					ITGB2_ENST00000355153.4_Missense_Mutation_p.V513A|ITGB2_ENST00000302347.5_Missense_Mutation_p.V513A|ITGB2_ENST00000397857.1_Missense_Mutation_p.V513A|ITGB2_ENST00000397854.3_Missense_Mutation_p.V456A|ITGB2_ENST00000397852.1_Missense_Mutation_p.V513A	p.V513A			P05107	ITB2_HUMAN		Colorectal(79;0.0669)	13	1990	-			513			Cysteine-rich tandem repeats.		B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Missense_Mutation	SNP	ENST00000397850.2	37	c.1538T>C	CCDS13716.1	.	.	.	.	.	.	.	.	.	.	A	16.66	3.184171	0.57800	.	.	ENSG00000160255	ENST00000397852;ENST00000397857;ENST00000397854;ENST00000355153;ENST00000397850;ENST00000302347	D;D;D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99;-2.99;-2.99	4.82	4.82	0.62117	.	.	.	.	.	D	0.88897	0.6562	L	0.58428	1.81	0.50171	D	0.999856	B;P	0.39535	0.193;0.677	B;B	0.33846	0.119;0.171	D	0.89768	0.3952	9	0.72032	D	0.01	.	12.3681	0.55240	1.0:0.0:0.0:0.0	.	456;513	A8MYE6;P05107	.;ITB2_HUMAN	A	513;513;456;513;513;513	ENSP00000380950:V513A;ENSP00000380955:V513A;ENSP00000380952:V456A;ENSP00000347279:V513A;ENSP00000380948:V513A;ENSP00000303242:V513A	ENSP00000303242:V513A	V	-	2	0	ITGB2	45134440	1.000000	0.71417	0.906000	0.35671	0.639000	0.38242	8.607000	0.90891	2.030000	0.59900	0.482000	0.46254	GTC		0.612	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211		12	30	0	0	0	1	0	12	30					G	46310012	A	G	46310012	3	3	463	1	0	0	0	0	1	0	0	0	7894	275	10	3	791	3	ITGB2	21	46310012	Missense_Mutation	SNP	A	TCGA-IM-A4EB-01A-11D-A257-08	35251690	46310012	1819883	23	9501											
GJA4	2701	broad.mit.edu	37	chr1	35260771	35260771	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctcagaatggccaaaaaccCccaagtcgtcccagcagctc	7	17	1	1			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr1:35260771C>G	ENST00000342280.4	+	2	1045	c.957C>G	c.(955-957)ccC>ccG	p.P319P		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	319			P -> S (in allele CX37*2; dbSNP:rs1764391). {ECO:0000269|PubMed:10447790, ECO:0000269|PubMed:10728596, ECO:0000269|Ref.3, ECO:0000269|Ref.4}.		blood vessel development (GO:0001568)|calcium ion transport (GO:0006816)|cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|endothelium development (GO:0003158)|response to pain (GO:0048265)|transport (GO:0006810)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GCCAAAAACCCCCAAGTCGTC	0.587																																						ENST00000342280.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14						c.(955-957)ccC>ccG		gap junction protein, alpha 4, 37kDa							43	41	42					1																	35260771		2203	4300	6503	SO:0001819	synonymous_variant	2701				cell-cell junction assembly	integral to plasma membrane		g.chr1:35260771C>G	M96789	CCDS30669.1	1p35.1	2008-02-05	2007-01-16		ENSG00000187513	ENSG00000187513		"Ion channels / Gap junction proteins (connexins)"	4278	protein-coding gene	gene with protein product	"connexin 37"	121012	"gap junction protein, alpha 4, 37kD (connexin 37)", "gap junction protein, alpha 4, 37kDa (connexin 37)"			9843209, 7680674	Standard	XM_005270750		Approved	CX37	uc001bya.3	P35212	OTTHUMG00000004050	ENST00000342280.4:c.957C>G	1.37:g.35260771C>G							p.P319P	NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN			2	1045	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	319		P -> S (in allele CX37*2; dbSNP:rs1764391).			A8K698|D3DPR4|Q9P106|Q9UBL1|Q9UNA9|Q9UNB0|Q9UNB1|Q9Y5N7	Silent	SNP	ENST00000342280.4	37	c.957C>G	CCDS30669.1																																																																																				0.587	GJA4-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011556.1	NM_002060		13	51	0	0	0	1	0	13	51					G	35260771	C	G	35260771	2	3	464	1	0	0	0	0	0	0	0	1	6403	610	22	4		4	GJA4	1	35260771	Silent	SNP	C	TCGA-J8-A3NZ-01A-11D-A21A-08		35260771	213989850	1	9502											
NBPF10	100132406	broad.mit.edu	37	chr1	145328378	145328378	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctgaatgtattgcaggaaTtaaaaaggaccaagaagagg	12	4	1	3			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr1:145328378T>C	ENST00000342960.5	+	33	4261	c.4226T>C	c.(4225-4227)aTt>aCt	p.I1409T	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	752						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ATTGCAGGAATTAAAAAGGAC	0.463																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(4225-4227)aTt>aCt		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145328378T>C	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.4226T>C	1.37:g.145328378T>C	ENSP00000345684:p.Ile1409Thr					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.I1409T	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	33	4261	+	all_hematologic(923;0.032)		1409					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.4226T>C	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.025	-1.378962	0.01204	.	.	ENSG00000163386	ENST00000342960	T	0.03413	3.94	.	.	.	.	.	.	.	.	T	0.00936	0.0031	L	0.41961	1.31	0.09310	N	1	.	.	.	.	.	.	T	0.46303	-0.9201	5	0.15952	T	0.53	.	.	.	.	.	.	.	.	T	1409	ENSP00000345684:I1409T	ENSP00000345684:I1409T	I	+	2	0	NBPF10	144039735	0.026000	0.19158	0.003000	0.11579	0.398000	0.30690	-0.605000	0.05661	-0.819000	0.04323	0.128000	0.15822	ATT		0.463	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		3	51	0	0	0	1	0	3	51					C	145328378	T	C	145328378	3	2	464	1	0	0	0	0	1	0	0	0	10193	1493	52	3	4356	3	NBPF10	1	145328378	Missense_Mutation	SNP	T	TCGA-J8-A3NZ-01A-11D-A21A-08	110067607	145328378	103922243	2	9503											
TCHH	7062	broad.mit.edu	37	chr1	152082220	152082220	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctggcgccttctcttctccGgttcctctctcagcagctgc	8	18	4	0	rs113946258	byFrequency	TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr1:152082220G>C	ENST00000368804.1	-	2	3472	c.3473C>G	c.(3472-3474)cCg>cGg	p.P1158R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1158	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCTTCTCCGGTTCCTCTCT	0.592																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(3472-3474)cCg>cGg		trichohyalin							71	70	70					1																	152082220		1986	4171	6157	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082220G>C	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3473C>G	1.37:g.152082220G>C	ENSP00000357794:p.Pro1158Arg						p.P1158R	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3472	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1158			10 X 30 AA tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.3473C>G	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	g	1.340	-0.594289	0.03771	.	.	ENSG00000159450	ENST00000368804	T	0.04603	3.59	1.86	-3.72	0.04411	.	.	.	.	.	T	0.00412	0.0013	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45716	-0.9242	9	0.16420	T	0.52	.	1.558	0.02589	0.2814:0.2588:0.3346:0.1252	.	1158	Q07283	TRHY_HUMAN	R	1158	ENSP00000357794:P1158R	ENSP00000357794:P1158R	P	-	2	0	TCHH	150348844	0.000000	0.05858	0.024000	0.17045	0.006000	0.05464	-6.257000	0.00073	-1.230000	0.02561	-1.439000	0.01073	CCG		0.592	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		3	71	0	0	0	1	0	3	71					C	152082220	G	C	152082220	3	2	464	1	0	0	0	0	1	0	0	0	15697	1116	39	4	2362	4	TCHH	1	152082220	Missense_Mutation	SNP	G	TCGA-J8-A3NZ-01A-11D-A21A-08	6753842	152082220	97168401	3	9504											
SCN3A	6328	broad.mit.edu	37	chr2	165952089	165952089	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attcagagtgaagaatgaccCaaagatgataaagatgacaa	9	5	1	8			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr2:165952089C>A	ENST00000360093.3	-	25	4854	c.4363G>T	c.(4363-4365)Ggg>Tgg	p.G1455W	SCN3A_ENST00000283254.7_Missense_Mutation_p.G1455W|SCN3A_ENST00000465043.1_5'Flank|SCN3A_ENST00000409101.3_Missense_Mutation_p.G1406W|SCN3A_ENST00000540861.1_5'Flank	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1455					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)	AAGAATGACCCAAAGATGATA	0.284																																						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.(4363-4365)Ggg>Tgg		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						84	81	82					2																	165952089		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165952089C>A	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.4363G>T	2.37:g.165952089C>A	ENSP00000353206:p.Gly1455Trp					SCN3A_ENST00000283254.7_Missense_Mutation_p.G1455W|SCN3A_ENST00000409101.3_Missense_Mutation_p.G1406W	p.G1455W	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			25	4854	-			1455					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.4363G>T		.	.	.	.	.	.	.	.	.	.	C	26.2	4.714492	0.89112	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101	D;D;D	0.98947	-5.26;-5.26;-5.26	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.99684	0.9881	H	0.99946	5.015	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	0.96917	0.9671	10	0.87932	D	0	.	19.4069	0.94651	0.0:1.0:0.0:0.0	.	1406;1406;1455	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	W	1455;1455;1406	ENSP00000353206:G1455W;ENSP00000283254:G1455W;ENSP00000386726:G1406W	ENSP00000283254:G1455W	G	-	1	0	SCN3A	165660335	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.609000	0.82925	2.894000	0.99253	0.591000	0.81541	GGG		0.284	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		3	56	1	0	0.115264	1	0.123698	3	56					A	165952089	C	A	165952089	3	1	464	1	0	0	0	0	1	0	0	0	13918	594	21	4	1655	4	SCN3A	2	165952089	Missense_Mutation	SNP	C	TCGA-J8-A3NZ-01A-11D-A21A-08		165952089	77247284	4	9505											
C3orf15	89876	broad.mit.edu	37	chr3	119462867	119462867	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggactggaaggaagggcaCtagcagacatgtttgacttc	13	9	0	2			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr3:119462867C>T	ENST00000273390.5	+	14	1803	c.1726C>T	c.(1726-1728)Cta>Tta	p.L576L	RP11-169N13.4_ENST00000489428.2_RNA	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	412						mitochondrion (GO:0005739)											AGGAAGGGCACTAGCAGACAT	0.488																																						ENST00000273390.5																			0											c.(1726-1728)Cta>Tta		MYCBP-associated, testis expressed 1							94	81	86					3																	119462867		2203	4300	6503	SO:0001819	synonymous_variant	89876							g.chr3:119462867C>T	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"AMY-1-associating protein expressed in testis 1", "MYCBP-binding protein", "spermatogenesis associated 26"	609910	"chromosome 3 open reading frame 15", "MYCBP/AMY-1-associated, testis expressed 1"	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.1726C>T	3.37:g.119462867C>T							p.L576L	NM_033364.3	NP_203528.2					14	1803	+								A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Silent	SNP	ENST00000273390.5	37	c.1726C>T	CCDS2994.1																																																																																				0.488	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		54	60	0	0	0	1	0	54	60					T	119462867	C	T	119462867	2	4	464	1	0	0	0	0	0	0	0	1	2209	564	20	2		2	C3orf15	3	119462867	Silent	SNP	C	TCGA-J8-A3NZ-01A-11D-A21A-08		119462867	78559563	5	9506											
PODXL2	50512	broad.mit.edu	37	chr3	127379384	127379384	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaagaggaagaggaGgagagggagaaggaagaggt	22	0	0	6			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr3:127379384G>A	ENST00000342480.6	+	3	552	c.513G>A	c.(511-513)gaG>gaA	p.E171E		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	171	Glu-rich.				leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						aggaagaggaggagagggaga	0.557																																						ENST00000342480.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						c.(511-513)gaG>gaA		podocalyxin-like 2							59	64	62					3																	127379384		2203	4300	6503	SO:0001819	synonymous_variant	50512				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding	g.chr3:127379384G>A	AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"endoglycan"					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.513G>A	3.37:g.127379384G>A							p.E171E	NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN			3	552	+			171			Glu-rich.		Q6UVY4|Q8WUV6	Silent	SNP	ENST00000342480.6	37	c.513G>A	CCDS3044.1																																																																																				0.557	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356638.1	NM_015720		3	71	0	0	0	1	0	3	71					A	127379384	G	A	127379384	2	1	464	1	0	0	0	0	0	0	0	1	12181	991	35	2		2	PODXL2	3	127379384	Silent	SNP	G	TCGA-J8-A3NZ-01A-11D-A21A-08	7916517	127379384	70643046	6	9507											
SEC61A1	29927	broad.mit.edu	37	chr3	127779461	127779461	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	actaacatctgtgaaaccatCgtatggaaggcattcagccc	8	11	2	1			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr3:127779461C>A	ENST00000243253.3	+	7	757	c.573C>A	c.(571-573)atC>atA	p.I191I	SEC61A1_ENST00000424880.2_Silent_p.I71I|SEC61A1_ENST00000464451.1_Silent_p.I197I	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	191					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)|cell growth (GO:0016049)|endoplasmic reticulum organization (GO:0007029)|posttranslational protein targeting to membrane (GO:0006620)|protein targeting to ER (GO:0045047)|response to interferon-gamma (GO:0034341)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						GTGAAACCATCGTATGGAAGG	0.478																																						ENST00000243253.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						c.(571-573)atC>atA		Sec61 alpha 1 subunit (S. cerevisiae)							119	105	110					3																	127779461		2203	4300	6503	SO:0001819	synonymous_variant	29927				protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding	g.chr3:127779461C>A	AF077032	CCDS3046.1	3q21.3	2008-02-05			ENSG00000058262	ENSG00000058262			18276	protein-coding gene	gene with protein product		609213					Standard	NM_013336		Approved		uc003ekb.3	P61619	OTTHUMG00000159624	ENST00000243253.3:c.573C>A	3.37:g.127779461C>A						SEC61A1_ENST00000424880.2_Silent_p.I71I|SEC61A1_ENST00000464451.1_Silent_p.I197I	p.I191I	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN			7	757	+			191					P38378|P57726|Q5JPF8|Q8N0Z4|Q8N3U3|Q8NC71|Q9BU16|Q9Y2R3	Silent	SNP	ENST00000243253.3	37	c.573C>A	CCDS3046.1																																																																																				0.478	SEC61A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356541.2	NM_013336		3	58	1	0	1	1	1	3	58					A	127779461	C	A	127779461	2	1	464	1	0	0	0	0	0	0	0	1	14000	874	31	4		4	SEC61A1	3	127779461	Silent	SNP	C	TCGA-J8-A3NZ-01A-11D-A21A-08	400077	127779461	70242969	7	9508											
SOX14	8403	broad.mit.edu	37	chr3	137484265	137484265	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtctgcctccaccctgcaGccccccgtcgcctacatcct	7	21	1	0			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr3:137484265G>A	ENST00000306087.1	+	1	687	c.639G>A	c.(637-639)caG>caA	p.Q213Q		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	213					entrainment of circadian clock (GO:0009649)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|regulation of neuron migration (GO:2001222)|visual perception (GO:0007601)	nuclear transcription factor complex (GO:0044798)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			large_intestine(2)|lung(12)	14						CCACCCTGCAGCCCCCCGTCG	0.657																																						ENST00000306087.1																			0				large_intestine(2)|lung(12)	14						c.(637-639)caG>caA		SRY (sex determining region Y)-box 14							44	33	37					3																	137484265		2202	4293	6495	SO:0001819	synonymous_variant	8403				negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding	g.chr3:137484265G>A	AJ006230	CCDS3094.1	3q22-q23	2008-07-18			ENSG00000168875	ENSG00000168875		"SRY (sex determining region Y)-boxes"	11193	protein-coding gene	gene with protein product	"HMG box transcription factor SOX-14", "SRY-box 14"	604747				9925951	Standard	NM_004189		Approved	SOX28	uc003erm.2	O95416	OTTHUMG00000159757	ENST00000306087.1:c.639G>A	3.37:g.137484265G>A							p.Q213Q	NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN			1	687	+			213					B2RAC0|Q3KPH7	Silent	SNP	ENST00000306087.1	37	c.639G>A	CCDS3094.1																																																																																				0.657	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357182.1	NM_004189		4	72	0	0	0	1	0	4	72					A	137484265	G	A	137484265	2	1	464	1	0	0	0	0	0	0	0	1	14945	962	34	2		2	SOX14	3	137484265	Silent	SNP	G	TCGA-J8-A3NZ-01A-11D-A21A-08	9704804	137484265	60538165	8	9509											
BDH1	622	broad.mit.edu	37	chr3	197238954	197238954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtaggtctccatcttggCgatcttttcatcaaagtact	8	10	5	0	rs145598252		TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr3:197238954C>T	ENST00000392378.2	-	7	1154	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	BDH1_ENST00000441275.1_Missense_Mutation_p.A195T|BDH1_ENST00000392379.1_Missense_Mutation_p.A282T|BDH1_ENST00000358186.2_Missense_Mutation_p.A282T	NM_004051.4	NP_004042.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	282					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|response to cadmium ion (GO:0046686)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to growth hormone (GO:0060416)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|phospholipid binding (GO:0005543)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)		TCCATCTTGGCGATCTTTTCA	0.582																																						ENST00000392379.1																			0				endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						c.(844-846)Gcc>Acc		3-hydroxybutyrate dehydrogenase, type 1	NADH(DB00157)	C	THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	187	157	167		844,844,844	2.9	0.2	3	dbSNP_134	167	0,8600		0,0,4300	no	missense,missense,missense	BDH1	NM_004051.4,NM_203314.2,NM_203315.2	58,58,58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign	282/344,282/344,282/344	197238954	1,13005	2203	4300	6503	SO:0001583	missense	622				cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity	g.chr3:197238954C>T	M93107	CCDS3328.1	3q29	2011-09-14	2005-11-15	2005-11-15	ENSG00000161267	ENSG00000161267	1.1.1.30	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	1027	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 9C, member 1"	603063	"3-hydroxybutyrate dehydrogenase (heart, mitochondrial)"	BDH		1639787, 19027726	Standard	XM_005269352		Approved	SDR9C1	uc003fxs.3	Q02338	OTTHUMG00000155478	ENST00000392378.2:c.844G>A	3.37:g.197238954C>T	ENSP00000376183:p.Ala282Thr					BDH1_ENST00000392378.2_Missense_Mutation_p.A282T|BDH1_ENST00000358186.2_Missense_Mutation_p.A282T|BDH1_ENST00000441275.1_Missense_Mutation_p.A195T	p.A282T	NM_203314.2	NP_976059.1	Q02338	BDH_HUMAN	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	8	1245	-	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	282					D3DXC0|Q96ET1|Q9BRZ4	Missense_Mutation	SNP	ENST00000392378.2	37	c.844G>A	CCDS3328.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.983110	0.34942	2.27E-4	0.0	ENSG00000161267	ENST00000392378;ENST00000358186;ENST00000392379;ENST00000441275	D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21	5.85	2.87	0.33458	NAD(P)-binding domain (1);	0.257583	0.43919	D	0.000507	D	0.87799	0.6268	L	0.42744	1.35	0.42674	D	0.993522	B	0.25809	0.135	B	0.17098	0.017	T	0.81486	-0.0911	10	0.17369	T	0.5	.	10.7729	0.46334	0.2568:0.6185:0.1247:0.0	.	282	Q02338	BDH_HUMAN	T	282;282;282;195	ENSP00000376183:A282T;ENSP00000350914:A282T;ENSP00000376184:A282T;ENSP00000411014:A195T	ENSP00000350914:A282T	A	-	1	0	BDH1	198723351	1.000000	0.71417	0.163000	0.22734	0.690000	0.40134	1.575000	0.36493	0.890000	0.36211	0.655000	0.94253	GCC		0.582	BDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340267.1	NM_004051		71	107	0	0	0	1	0	71	107					T	197238954	C	T	197238954	3	4	464	1	0	0	0	0	1	0	0	0	1390	768	27	1	191	1	BDH1	3	197238954	Missense_Mutation	SNP	C	TCGA-J8-A3NZ-01A-11D-A21A-08	59754689	197238954	783476	9	9510											
DDX60L	91351	broad.mit.edu	37	chr4	169325133	169325133	+	Splice_Site	DEL	A	A	-													attaagtttcagttacttacAaaaaaaatattgcaggcaac							TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr4:169325133delA	ENST00000511577.1	-	25	3585	c.3338delT	c.(3337-3339)ttg>tg	p.L1113fs	DDX60L_ENST00000505890.1_Splice_Site_p.L1113fs|DDX60L_ENST00000260184.7_Splice_Site_p.L1113fs			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1113							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		AGTTACTTACAAAAAAAATAT	0.274																																						ENST00000511577.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.e25+1		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							30	27	28					4																	169325133		1786	4046	5832	SO:0001630	splice_region_variant	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169325133delA	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.3338+1T>-	4.37:g.169325133delA						DDX60L_ENST00000505890.1_Splice_Site_p.L1113_splice|DDX60L_ENST00000260184.7_Splice_Site_p.L1113_splice	p.L1113_splice			Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	25	3585	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1113					Q96ND6	Splice_Site	DEL	ENST00000511577.1	37	c.3338_splice																																																																																					0.274	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967	Frame_Shift_Del	2	4						2	4	---	---	---	---	-	169325133	A	-	169325133	8	5	464	1	0	1	0	1	0	0	1	0	4379	144	5	0	1838	0	DDX60L	4	169325133	Splice_Site	DEL	A	TCGA-J8-A3NZ-01A-11D-A21A-08		169325133	21829143	10	9511											
SLC12A7	10723	broad.mit.edu	37	chr5	1078124	1078125	+	Splice_Site	INS	-	-	GCAG													tgcagggcctccccgaacctINSgcaggcaggcgggcaggcgg					rs369273236|rs369196468|rs200032397	byFrequency	TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr5:1078124_1078125insGCAG	ENST00000264930.5	-	12	1498		c.e12-2			NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7						cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TCCCCGAACCTgcaggcaggcg	0.673														58	0.0115815	0.0159	0.0144	5008	,	,		15824	0		0.0209	False		,,,				2504	0.0061					ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.e12-2		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)			94,3970		14,66,1952						3.5	1.0			11	265,7685		24,217,3734	no	splice-3	SLC12A7	NM_006598.2		38,283,5686	A1A1,A1R,RR		3.3333,2.313,2.9882				359,11655				SO:0001630	splice_region_variant	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1078124_1078125insGCAG	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"Solute carriers"	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.1455-2->CTGC	5.37:g.1078129_1078132dupGCAG								NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		12	1498	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)							A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Splice_Site	INS	ENST00000264930.5	37		CCDS34129.1																																																																																				0.673	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598	Intron	9	10						9	10	---	---	---	---	GCAG	1078125	-	GCAG	1078124	8	5	464	1	0	1	1	0	0	0	1	0	14388	1594	55	0	1850	0	SLC12A7	5	1078124	Splice_Site	INS	-	TCGA-J8-A3NZ-01A-11D-A21A-08		1078124	179837136	11	9512											
KIAA1244	57221	broad.mit.edu	37	chr6	138584107	138584107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacacgccgtgggagtcagGgaacgagaggagccttgaca	15	10	1	2			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr6:138584107G>A	ENST00000251691.4	+	12	1653	c.1487G>A	c.(1486-1488)gGg>gAg	p.G496E		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TGGGAGTCAGGGAACGAGAGG	0.592																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(1486-1488)gGg>gAg		KIAA1244							51	39	43					6																	138584107		2203	4299	6502	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138584107G>A	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.1487G>A	6.37:g.138584107G>A	ENSP00000251691:p.Gly496Glu						p.G496E	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	12	1653	+	Breast(32;0.135)		496						Missense_Mutation	SNP	ENST00000251691.4	37	c.1487G>A	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	9.246	1.039478	0.19669	.	.	ENSG00000112379	ENST00000251691	T	0.20200	2.09	5.52	4.65	0.58169	.	0.640740	0.14684	N	0.304577	T	0.07593	0.0191	N	0.24115	0.695	0.35554	D	0.804136	P	0.35077	0.483	B	0.33339	0.162	T	0.11891	-1.0569	10	0.52906	T	0.07	-23.692	14.0705	0.64856	0.0723:0.0:0.9277:0.0	.	496	Q5TH69	BIG3_HUMAN	E	496	ENSP00000251691:G496E	ENSP00000251691:G496E	G	+	2	0	KIAA1244	138625800	0.992000	0.36948	0.032000	0.17829	0.472000	0.32918	4.378000	0.59568	1.323000	0.45263	0.655000	0.94253	GGG		0.592	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		3	3	0	0	0	1	0	3	3					A	138584107	G	A	138584107	3	1	464	1	0	0	0	0	1	0	0	0	8217	1232	43	2	1533	2	KIAA1244	6	138584107	Missense_Mutation	SNP	G	TCGA-J8-A3NZ-01A-11D-A21A-08		138584107	32530960	12	9513											
UTRN	7402	broad.mit.edu	37	chr6	145021242	145021242	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcccatttggaggccagcGctgagaagtggaacaggttg	17	8	0	1	rs374209033		TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr6:145021242G>T	ENST00000367545.3	+	52	7672	c.7672G>T	c.(7672-7674)Gct>Tct	p.A2558S	UTRN_ENST00000367526.4_Missense_Mutation_p.A113S	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2558					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GGAGGCCAGCGCTGAGAAGTG	0.373																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(7672-7674)Gct>Tct		utrophin							74	74	74					6																	145021242		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145021242G>T	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.7672G>T	6.37:g.145021242G>T	ENSP00000356515:p.Ala2558Ser					UTRN_ENST00000367526.4_Missense_Mutation_p.A113S	p.A2558S	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	52	7672	+		Ovarian(120;0.218)	2558					Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.7672G>T	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.265518	0.23136	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	T;T	0.34472	1.36;1.36	5.64	5.64	0.86602	.	0.000000	0.46758	D	0.000270	T	0.12008	0.0292	N	0.24115	0.695	0.51012	D	0.999905	B	0.15141	0.012	B	0.12156	0.007	T	0.15065	-1.0450	10	0.02654	T	1	.	19.7186	0.96134	0.0:0.0:1.0:0.0	.	2558	P46939	UTRO_HUMAN	S	2558;113	ENSP00000356515:A2558S;ENSP00000356496:A113S	ENSP00000356496:A113S	A	+	1	0	UTRN	145062935	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.333000	0.79214	2.659000	0.90383	0.655000	0.94253	GCT		0.373	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			3	54	1	0	0.150653	1	0.157827	3	54					T	145021242	G	T	145021242	3	4	464	1	0	0	0	0	1	0	0	0	17100	1087	38	4	7878	4	UTRN	6	145021242	Missense_Mutation	SNP	G	TCGA-J8-A3NZ-01A-11D-A21A-08	6437135	145021242	26093825	13	9514											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		26	44	0	0	0	1	0	26	44					T	140453136	A	T	140453136	3	4	464	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-J8-A3NZ-01A-11D-A21A-08		140453136	18685527	14	9515											
SSPO	23145	broad.mit.edu	37	chr7	149482073	149482073	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctgcaggcagtactgatgGctgtgtctgtccaccaggca	12	13	1	1			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr7:149482073G>T	ENST00000378016.2	+	0	2861							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)	p.A290S(1)				Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGTACTGATGGCTGTGTCTGT	0.627																																						ENST00000378016.2																			1	Substitution - Missense(1)	p.A290S(1)	kidney(1)										SCO-spondin							27	30	29					7																	149482073		2084	4202	6286			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149482073G>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149482073G>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	2861	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.627	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				4	18	1	0	1.23904e-05	1	1.39789e-05	4	18					T	149482073	G	T	149482073	1	4	464	0	1	0	0	0	0	0	0	0	15188	1203	42	4		4	SSPO	7	149482073	RNA	SNP	G	TCGA-J8-A3NZ-01A-11D-A21A-08	9028937	149482073	9656590	15	9516											
OR52N2	390077	broad.mit.edu	37	chr11	5841775	5841775	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttcctggccctgctctccttCactgatgtcaccttgtgcac	7	16	3	1			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr11:5841775C>G	ENST00000317037.2	+	1	232	c.210C>G	c.(208-210)ttC>ttG	p.F70L	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F70F(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCTCTCCTTCACTGATGTCA	0.537																																						ENST00000317037.2																			1	Substitution - coding silent(1)	p.F70F(1)	skin(1)	autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32						c.(208-210)ttC>ttG		olfactory receptor, family 52, subfamily N, member 2							167	144	152					11																	5841775		2201	4296	6497	SO:0001583	missense	390077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5841775C>G	AB065816	CCDS31399.1	11p15.4	2012-08-09			ENSG00000180988	ENSG00000180988		"GPCR / Class A : Olfactory receptors"	15228	protein-coding gene	gene with protein product							Standard	NM_001005174		Approved		uc010qzp.2	Q8NGI0	OTTHUMG00000168801	ENST00000317037.2:c.210C>G	11.37:g.5841775C>G	ENSP00000322801:p.Phe70Leu					TRIM5_ENST00000380027.1_Intron	p.F70L	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	232	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	70					Q6IFF9	Missense_Mutation	SNP	ENST00000317037.2	37	c.210C>G	CCDS31399.1	.	.	.	.	.	.	.	.	.	.	C	0.100	-1.153846	0.01700	.	.	ENSG00000180988	ENST00000317037	T	0.00966	5.49	5.91	2.05	0.26809	GPCR, rhodopsin-like superfamily (1);	0.193930	0.37261	N	0.002174	T	0.00608	0.0020	N	0.13198	0.31	0.22292	N	0.999226	B	0.06786	0.001	B	0.08055	0.003	T	0.48980	-0.8986	10	0.02654	T	1	.	9.7411	0.40418	0.0:0.7204:0.0:0.2796	.	70	Q8NGI0	O52N2_HUMAN	L	70	ENSP00000322801:F70L	ENSP00000322801:F70L	F	+	3	2	OR52N2	5798351	0.000000	0.05858	0.367000	0.25926	0.566000	0.35808	0.206000	0.17375	0.136000	0.18733	0.655000	0.94253	TTC		0.537	OR52N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401143.1	NM_001005174		3	203	0	0	0	1	0	3	203					G	5841775	C	G	5841775	3	3	464	1	0	0	0	0	1	0	0	0	11128	825	29	4	212	4	OR52N2	11	5841775	Missense_Mutation	SNP	C	TCGA-J8-A3NZ-01A-11D-A21A-08		5841775	129164741	16	9517											
TAS2R46	259292	broad.mit.edu	37	chr12	11214130	11214130	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagacaggtttgttttccAgactctcaaaactccaaact	6	10	1	3			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr12:11214130A>G	ENST00000533467.1	-	1	763	c.764T>C	c.(763-765)cTg>cCg	p.L255P	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	255					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TTTGTTTTCCAGACTCTCAAA	0.418																																						ENST00000533467.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						c.(763-765)cTg>cCg		taste receptor, type 2, member 46							183	193	189					12																	11214130		2202	4300	6502	SO:0001583	missense	259292				sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity	g.chr12:11214130A>G	AF494227	CCDS53748.1	12p13.2	2012-08-22				ENSG00000226761		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18877	protein-coding gene	gene with protein product		612774				12379855	Standard	NM_176887		Approved	T2R54	uc001qzp.1	P59540		ENST00000533467.1:c.764T>C	12.37:g.11214130A>G	ENSP00000436450:p.Leu255Pro					TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.L255P	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)	1	763	-			255					P59548|Q645X6	Missense_Mutation	SNP	ENST00000533467.1	37	c.764T>C	CCDS53748.1	.	.	.	.	.	.	.	.	.	.	A	6.503	0.460981	0.12342	.	.	ENSG00000226761	ENST00000533467	T	0.00682	5.86	2.54	2.54	0.30619	.	.	.	.	.	T	0.00906	0.0030	L	0.37897	1.145	0.21020	N	0.999804	B	0.12630	0.006	B	0.20577	0.03	T	0.44050	-0.9353	9	0.37606	T	0.19	.	8.5848	0.33651	1.0:0.0:0.0:0.0	.	255	P59540	T2R46_HUMAN	P	255	ENSP00000436450:L255P	ENSP00000436450:L255P	L	-	2	0	TAS2R46	11105397	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	-0.344000	0.07780	1.181000	0.42912	0.163000	0.16589	CTG		0.418	TAS2R46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383559.1	NM_176887		6	122	0	0	0	1	0	6	122					G	11214130	A	G	11214130	3	3	464	1	0	0	0	0	1	0	0	0	15579	188	7	3	169	3	TAS2R46	12	11214130	Missense_Mutation	SNP	A	TCGA-J8-A3NZ-01A-11D-A21A-08		11214130	122637765	17	9518											
DTX1	1840	broad.mit.edu	37	chr12	113533162	113533162	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccaaccccgggaagaagttCaccgcaagaggattccctcg	10	15	1	2			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr12:113533162C>A	ENST00000257600.3	+	8	2084	c.1581C>A	c.(1579-1581)ttC>ttA	p.F527L	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	527					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GGAAGAAGTTCACCGCAAGAG	0.597																																						ENST00000257600.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(1579-1581)ttC>ttA		deltex homolog 1 (Drosophila)							73	77	76					12																	113533162		2203	4300	6503	SO:0001583	missense	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113533162C>A	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"deltex homolog 1 (Drosophila)"			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1581C>A	12.37:g.113533162C>A	ENSP00000257600:p.Phe527Leu					DTX1_ENST00000547974.1_3'UTR	p.F527L	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN			8	2084	+			527					O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.1581C>A	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.817464	0.70912	.	.	ENSG00000135144	ENST00000257600	T	0.54866	0.55	4.66	3.76	0.43208	.	0.056522	0.64402	D	0.000001	T	0.60907	0.2305	M	0.88906	2.99	0.52099	D	0.999948	B	0.32939	0.391	B	0.38954	0.286	T	0.64188	-0.6466	10	0.87932	D	0	-0.564	8.549	0.33440	0.0:0.8152:0.0:0.1848	.	527	Q86Y01	DTX1_HUMAN	L	527	ENSP00000257600:F527L	ENSP00000257600:F527L	F	+	3	2	DTX1	112017545	1.000000	0.71417	0.994000	0.49952	0.921000	0.55340	3.720000	0.54933	0.922000	0.37019	0.561000	0.74099	TTC		0.597	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			5	173	1	0	1	1	1	5	173					A	113533162	C	A	113533162	3	1	464	1	0	0	0	0	1	0	0	0	4793	825	29	4	1611	4	DTX1	12	113533162	Missense_Mutation	SNP	C	TCGA-J8-A3NZ-01A-11D-A21A-08	102319032	113533162	20318733	18	9519											
MYO5C	55930	broad.mit.edu	37	chr15	52529700	52529700	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcttccacagcatccctgtaTctcttccccttctcctcgta	3	18	3	0			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr15:52529700T>A	ENST00000261839.7	-	22	3008	c.2847A>T	c.(2845-2847)agA>agT	p.R949S	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	949						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CATCCCTGTATCTCTTCCCCT	0.512																																						ENST00000261839.7																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(2845-2847)agA>agT		myosin VC							313	321	318					15																	52529700		2045	4209	6254	SO:0001583	missense	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52529700T>A	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"Myosins / Myosin superfamily : Class V"	7604	protein-coding gene	gene with protein product	"myosin 5C"	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.2847A>T	15.37:g.52529700T>A	ENSP00000261839:p.Arg949Ser					MYO5C_ENST00000443683.2_3'UTR	p.R949S	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	22	3008	-			949					Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	37	c.2847A>T	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	T	8.735	0.917686	0.17982	.	.	ENSG00000128833	ENST00000261839	T	0.17528	2.27	5.56	3.18	0.36537	.	0.371038	0.30011	N	0.010624	T	0.09335	0.0230	N	0.24115	0.695	0.09310	N	0.999997	B	0.02656	0.0	B	0.06405	0.002	T	0.36720	-0.9736	10	0.09338	T	0.73	.	8.6657	0.34118	0.0:0.2841:0.0:0.7159	.	949	Q9NQX4	MYO5C_HUMAN	S	949	ENSP00000261839:R949S	ENSP00000261839:R949S	R	-	3	2	MYO5C	50316992	1.000000	0.71417	0.598000	0.28837	0.034000	0.12701	1.464000	0.35288	0.924000	0.37069	0.533000	0.62120	AGA		0.512	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		5	467	0	0	0	1	0	5	467					A	52529700	T	A	52529700	3	1	464	1	0	0	0	0	1	0	0	0	10080	1432	50	5	2461	5	MYO5C	15	52529700	Missense_Mutation	SNP	T	TCGA-J8-A3NZ-01A-11D-A21A-08		52529700	50001692	19	9520											
ULK3	25989	broad.mit.edu	37	chr15	75134762	75134762	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	accacttcacgagtgtccttCtgcgagacaggagatttggg	12	10	2	2			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr15:75134762C>G	ENST00000440863.2	-	2	194		c.e2-1		ULK3_ENST00000569437.1_Splice_Site|ULK3_ENST00000568667.1_Splice_Site	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3						autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cellular senescence (GO:0090398)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)	2						GAGTGTCCTTCTGCGAGACAG	0.557																																						ENST00000440863.2																			0				breast(2)	2						c.e2-1		unc-51 like kinase 3							187	184	185					15																	75134762		1967	4153	6120	SO:0001630	splice_region_variant	25989					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr15:75134762C>G	BC048289		15q24.1	2013-07-02	2013-07-02			ENSG00000140474			19703	protein-coding gene	gene with protein product		613472	"unc-51-like kinase 3 (C. elegans)"				Standard	XM_005254289		Approved	DKFZP434C131, FLJ90566	uc010bkf.1	Q6PHR2		ENST00000440863.2:c.103-1G>C	15.37:g.75134762C>G						ULK3_ENST00000569437.1_Splice_Site|ULK3_ENST00000568667.1_Splice_Site		NM_001099436.1	NP_001092906.1	Q6PHR2	ULK3_HUMAN			2	194	-								B2RXK3|B4DRQ7|D3DW68|Q9NPN5|Q9UFS4	Splice_Site	SNP	ENST00000440863.2	37		CCDS45305.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333494	0.60853	.	.	ENSG00000140474	ENST00000440863;ENST00000418051	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0888	0.86617	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ULK3	72921815	1.000000	0.71417	0.994000	0.49952	0.611000	0.37282	7.270000	0.78493	2.378000	0.81104	0.655000	0.94253	.		0.557	ULK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421734.4	NM_015518	Intron	65	168	0	0	0	1	0	65	168					G	75134762	C	G	75134762	5	3	464	1	0	0	0	0	0	0	1	0	16974	927	32	4	1376	4	ULK3	15	75134762	Splice_Site	SNP	C	TCGA-J8-A3NZ-01A-11D-A21A-08	22605062	75134762	27396630	20	9521											
FAM86A	196483	broad.mit.edu	37	chr16	5139209	5139209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggcaggcagccagcctcCgcaggaccccgaccagcgac	12	20	0	0	rs201731046		TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr16:5139209C>T	ENST00000427587.4	-	7	859	c.791G>A	c.(790-792)cGg>cAg	p.R264Q	FAM86A_ENST00000587133.1_Missense_Mutation_p.R203Q|FAM86A_ENST00000458008.4_Missense_Mutation_p.R230Q	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	264						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						AGCCAGCCTCCGCAGGACCCC	0.607																																						ENST00000427587.4																			0				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						c.(790-792)cGg>cAg		family with sequence similarity 86, member A							52	59	56					16																	5139209		1503	2704	4207	SO:0001583	missense	196483							g.chr16:5139209C>T	BC010084	CCDS10529.1, CCDS10530.1, CCDS73823.1	16p13.3	2012-11-07			ENSG00000118894	ENSG00000118894			32221	protein-coding gene	gene with protein product		615263					Standard	NM_201400		Approved	SB153, MGC19636	uc002cyo.2	Q96G04	OTTHUMG00000129527	ENST00000427587.4:c.791G>A	16.37:g.5139209C>T	ENSP00000398502:p.Arg264Gln					FAM86A_ENST00000458008.4_Missense_Mutation_p.R230Q|FAM86A_ENST00000587133.1_Missense_Mutation_p.R203Q	p.R264Q	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN			7	859	-			264					D3DUF0|Q96S85	Missense_Mutation	SNP	ENST00000427587.4	37	c.791G>A	CCDS10529.1	.	.	.	.	.	.	.	.	.	.	c	0.213	-1.035051	0.02029	.	.	ENSG00000118894	ENST00000458008;ENST00000427587	T;T	0.06068	3.35;3.35	4.05	-8.1	0.01086	.	0.645915	0.15618	N	0.253054	T	0.02418	0.0074	N	0.05619	-0.005	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.31668	-0.9935	10	0.05620	T	0.96	.	16.0236	0.80522	0.0:0.1651:0.0:0.8349	.	230;264	Q96G04-2;Q96G04	.;FA86A_HUMAN	Q	230;264	ENSP00000389710:R230Q;ENSP00000398502:R264Q	ENSP00000398502:R264Q	R	-	2	0	FAM86A	5079210	0.002000	0.14202	0.001000	0.08648	0.274000	0.26718	-0.095000	0.11077	-2.425000	0.00561	-0.476000	0.04901	CGG		0.607	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251713.1	NM_201400		4	93	0	0	0	1	0	4	93					T	5139209	C	T	5139209	3	4	464	1	0	0	0	0	1	0	0	0	5643	652	23	1	209	1	FAM86A	16	5139209	Missense_Mutation	SNP	C	TCGA-J8-A3NZ-01A-11D-A21A-08		5139209	85215544	21	9522											
LRRC36	55282	broad.mit.edu	37	chr16	67401213	67401213	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcatggaagtcttggtaaaAggcctcagagaagcaagaac	12	7	2	2			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr16:67401213A>G	ENST00000329956.6	+	8	1067	c.1048A>G	c.(1048-1050)Agg>Ggg	p.R350G	LRRC36_ENST00000563189.1_Missense_Mutation_p.R229G|LRRC36_ENST00000290940.7_Missense_Mutation_p.R82G|LRRC36_ENST00000541146.1_Intron|LRRC36_ENST00000435835.3_Missense_Mutation_p.R229G	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	350										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		TCTTGGTAAAAGGCCTCAGAG	0.403																																						ENST00000329956.6																			0				endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24						c.(1048-1050)Agg>Ggg		leucine rich repeat containing 36							179	183	182					16																	67401213		2198	4300	6498	SO:0001583	missense	55282							g.chr16:67401213A>G	BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.1048A>G	16.37:g.67401213A>G	ENSP00000329943:p.Arg350Gly					LRRC36_ENST00000290940.7_Missense_Mutation_p.R82G|LRRC36_ENST00000563189.1_Missense_Mutation_p.R229G|LRRC36_ENST00000435835.3_Missense_Mutation_p.R229G|LRRC36_ENST00000541146.1_Intron	p.R350G	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)	8	1067	+		Ovarian(137;0.192)	350					A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Missense_Mutation	SNP	ENST00000329956.6	37	c.1048A>G	CCDS32467.1	.	.	.	.	.	.	.	.	.	.	A	17.43	3.386409	0.61956	.	.	ENSG00000159708	ENST00000329956;ENST00000290940;ENST00000435835	T;T;T	0.55588	2.82;0.51;1.1	6.17	6.17	0.99709	.	0.612512	0.17516	N	0.171423	T	0.55529	0.1926	L	0.50333	1.59	0.80722	D	1	P;P;P	0.46142	0.873;0.873;0.763	P;P;B	0.47346	0.544;0.466;0.288	T	0.56547	-0.7961	10	0.54805	T	0.06	-5.5187	13.214	0.59844	1.0:0.0:0.0:0.0	.	229;229;350	B7Z7B3;Q1X8D7-2;Q1X8D7	.;.;LRC36_HUMAN	G	350;82;229	ENSP00000329943:R350G;ENSP00000290940:R82G;ENSP00000411122:R229G	ENSP00000290940:R82G	R	+	1	2	LRRC36	65958714	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	4.891000	0.63185	2.371000	0.80710	0.533000	0.62120	AGG		0.403	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296		3	122	0	0	0	1	0	3	122					G	67401213	A	G	67401213	3	3	464	1	0	0	0	0	1	0	0	0	8990	63	3	3	1106	3	LRRC36	16	67401213	Missense_Mutation	SNP	A	TCGA-J8-A3NZ-01A-11D-A21A-08	62262004	67401213	22953540	22	9523											
HAP1	9001	broad.mit.edu	37	chr17	39888235	39888237	+	In_Frame_Del	DEL	CTT	CTT	-													acactgcaggtcttcctctgCttcttcttcttcctgttcct					rs150945451	byFrequency	TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr17:39888235_39888237delCTT	ENST00000310778.5	-	4	857_859	c.848_850delAAG	c.(847-852)gaagca>gca	p.E283del	HAP1_ENST00000393939.2_In_Frame_Del_p.E283del|HAP1_ENST00000341193.5_In_Frame_Del_p.E291del|RN7SL399P_ENST00000471648.2_RNA|JUP_ENST00000540235.1_Intron|HAP1_ENST00000347901.4_In_Frame_Del_p.E283del			P54257	HAP1_HUMAN	huntingtin-associated protein 1	283	Glu-rich.|HAP1 N-terminal.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			tcttcctctgcttcttcttcttc	0.507																																						ENST00000393939.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21						c.(847-852)gca>g		huntingtin-associated protein 1			,,	1,4253		0,1,2126					,,	-0.5	0.0			191	11,8241		0,11,4115	no	coding,coding,coding	HAP1	NM_177977.2,NM_001079871.1,NM_001079870.1	,,	0,12,6241	A1A1,A1R,RR		0.1333,0.0235,0.096	,,	,,		12,12494				SO:0001651	inframe_deletion	9001				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding	g.chr17:39888235_39888237delCTT	AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"neuroan 1"	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.848_850delAAG	17.37:g.39888244_39888246delCTT	ENSP00000309392:p.Glu283del					JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_In_Frame_Del_p.EA291del|HAP1_ENST00000347901.4_In_Frame_Del_p.EA283del|HAP1_ENST00000310778.5_In_Frame_Del_p.EA283del	p.EA283del			P54257	HAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		4	857_859	-		Breast(137;0.000162)	283			Glu-rich.|HAP1 N-terminal.		A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	In_Frame_Del	DEL	ENST00000310778.5	37	c.848_850delAAG																																																																																					0.507	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949		2	4						2	4	---	---	---	---	-	39888237	CTT	-	39888235	7	5	464	1	0	1	0	1	0	0	0	0	6953	797	28	0	1041	0	HAP1	17	39888235	In_Frame_Del	DEL	CTT	TCGA-J8-A3NZ-01A-11D-A21A-08		39888235	41306975	23	9524											
RAVER1	125950	broad.mit.edu	37	chr19	10431412	10431412	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagggggctgagcaggcgGgacttgagctggaaggcttt	19	7	0	3			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr19:10431412G>A	ENST00000293677.6	-	9	1821	c.1740C>T	c.(1738-1740)tcC>tcT	p.S580S	CTD-2369P2.12_ENST00000586529.1_5'Flank	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	0						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			TGAGCAGGCGGGACTTGAGCT	0.697																																						ENST00000293677.6																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18						c.(1738-1740)tcC>tcT		ribonucleoprotein, PTB-binding 1							4	5	5					19																	10431412		1887	4004	5891	SO:0001819	synonymous_variant	125950					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr19:10431412G>A		CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"RNA binding motif (RRM) containing"	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.1740C>T	19.37:g.10431412G>A							p.S580S	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		9	1821	-			433					A6NMU4|Q8IY60|Q8TF24	Silent	SNP	ENST00000293677.6	37	c.1740C>T	CCDS45960.1																																																																																				0.697	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451227.1	NM_133452		3	19	0	0	0	1	0	3	19					A	10431412	G	A	10431412	2	1	464	1	0	0	0	0	0	0	0	1	13094	1219	43	2		2	RAVER1	19	10431412	Silent	SNP	G	TCGA-J8-A3NZ-01A-11D-A21A-08		10431412	48697571	24	9525											
BCAM	4059	broad.mit.edu	37	chr19	45317503	45317503	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccagctgctctgccggggGgacggcagccccagcccgga	16	16	1	0			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr19:45317503G>A	ENST00000270233.6	+	7	901	c.879G>A	c.(877-879)ggG>ggA	p.G293G	BCAM_ENST00000589651.1_Silent_p.G293G	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	293	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				TCTGCCGGGGGGACGGCAGCC	0.672																																						ENST00000391955.1																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22						c.(877-879)ggG>ggA		basal cell adhesion molecule (Lutheran blood group)							48	48	48					19																	45317503		2203	4299	6502	SO:0001819	synonymous_variant	4059				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	g.chr19:45317503G>A	X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6722	protein-coding gene	gene with protein product		612773	"Lutheran blood group (Auberger b antigen included)", "basal cell adhesion molecule (Lu and Au blood groups)"	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.879G>A	19.37:g.45317503G>A						BCAM_ENST00000270233.6_Silent_p.G293G	p.G293G			P50895	BCAM_HUMAN			7	923	+	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)	293			Ig-like C2-type 1.		A8MYF9|A9YWT5|A9YWT6|Q86VC7	Silent	SNP	ENST00000270233.6	37	c.879G>A	CCDS12644.1																																																																																				0.672	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		83	82	0	0	0	1	0	83	82					A	45317503	G	A	45317503	2	1	464	1	0	0	0	0	0	0	0	1	1344	1219	43	2		2	BCAM	19	45317503	Silent	SNP	G	TCGA-J8-A3NZ-01A-11D-A21A-08	34886091	45317503	13811480	25	9526											
ZNF419	79744	broad.mit.edu	37	chr19	58005274	58005274	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaacatcgaaaagttcacaTtggagaaaagccttttaagt	8	7	1	1			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr19:58005274T>C	ENST00000221735.7	+	5	1535	c.1349T>C	c.(1348-1350)aTt>aCt	p.I450T	AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000426954.2_Missense_Mutation_p.I438T|ZNF419_ENST00000354197.4_Intron|ZNF419_ENST00000424930.2_Missense_Mutation_p.I451T|ZNF419_ENST00000347466.6_Missense_Mutation_p.I418T|ZNF419_ENST00000442920.2_Missense_Mutation_p.I437T|ZNF419_ENST00000415379.2_Missense_Mutation_p.I404T			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	450					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		AAAGTTCACATTGGAGAAAAG	0.428																																						ENST00000424930.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(1351-1353)aTt>aCt		zinc finger protein 419							114	120	118					19																	58005274		2203	4300	6503	SO:0001583	missense	79744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58005274T>C	AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"Zinc fingers, C2H2-type", "-"	20648	protein-coding gene	gene with protein product			"zinc finger protein 419A"	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.1349T>C	19.37:g.58005274T>C	ENSP00000221735:p.Ile450Thr					ZNF419_ENST00000221735.7_Missense_Mutation_p.I450T|ZNF419_ENST00000442920.2_Missense_Mutation_p.I437T|ZNF419_ENST00000354197.4_Intron|ZNF419_ENST00000415379.2_Missense_Mutation_p.I404T|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000426954.2_Missense_Mutation_p.I438T|ZNF419_ENST00000347466.6_Missense_Mutation_p.I418T	p.I451T	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)	5	1581	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)	450					B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Missense_Mutation	SNP	ENST00000221735.7	37	c.1352T>C	CCDS54326.1	.	.	.	.	.	.	.	.	.	.	T	1.424	-0.572180	0.03882	.	.	ENSG00000105136	ENST00000284020;ENST00000424930;ENST00000426954;ENST00000442920;ENST00000347466;ENST00000415379;ENST00000221735	T;T;T;T;T;T	0.11821	2.74;2.74;2.74;2.74;2.74;2.74	2.11	-0.636	0.11508	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02012	0.0063	N	0.00214	-1.84	0.48571	D	0.999672	B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001;0.0;0.001	B;B;B;B;B;B;B	0.04013	0.0;0.0;0.001;0.0;0.001;0.0;0.001	T	0.47611	-0.9104	9	0.02654	T	1	.	5.6653	0.17693	0.0:0.6542:0.2003:0.1455	.	404;404;437;438;451;418;450	E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;.;ZN419_HUMAN	T	425;451;438;437;418;404;450	ENSP00000388864:I451T;ENSP00000390916:I438T;ENSP00000414709:I437T;ENSP00000299860:I418T;ENSP00000392129:I404T;ENSP00000221735:I450T	ENSP00000221735:I450T	I	+	2	0	ZNF419	62697086	0.001000	0.12720	0.082000	0.20525	0.772000	0.43724	-0.213000	0.09305	0.191000	0.20236	0.172000	0.16884	ATT		0.428	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378506.1	NM_024691		3	139	0	0	0	1	0	3	139					C	58005274	T	C	58005274	3	2	464	1	0	0	0	0	1	0	0	0	17893	1493	52	3	1370	3	ZNF419	19	58005274	Missense_Mutation	SNP	T	TCGA-J8-A3NZ-01A-11D-A21A-08	12687771	58005274	1123709	26	9527											
ABCB7	22	broad.mit.edu	37	chrX	74296488	74296488	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggaaccacaatattcatgGcctaaaaacataaaaacatc	5	9	1	0			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chrX:74296488G>A	ENST00000373394.3	-	5	462	c.455C>T	c.(454-456)gCc>gTc	p.A152V	ABCB7_ENST00000339447.4_Splice_Site_p.A112V|ABCB7_ENST00000253577.3_Splice_Site_p.A153V|ABCB7_ENST00000534570.1_5'Flank			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	152	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						AATATTCATGGCCTAAAAACA	0.318																																						ENST00000253577.3																			0				breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						c.e5-1		ATP-binding cassette, sub-family B (MDR/TAP), member 7							84	65	71					X																	74296488		2203	4300	6503	SO:0001630	splice_region_variant	22				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	g.chrX:74296488G>A	AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"ATP binding cassette transporters / subfamily B"	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.454-1C>T	X.37:g.74296488G>A						ABCB7_ENST00000373394.3_Splice_Site_p.A152_splice|ABCB7_ENST00000339447.4_Splice_Site_p.A112_splice	p.A153_splice	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN			5	482	-			152			ABC transmembrane type-1.		G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Splice_Site	SNP	ENST00000373394.3	37	c.456_splice		.	.	.	.	.	.	.	.	.	.	G	5.433	0.265057	0.10294	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949;ENST00000534524;ENST00000526404	D;D;D;D;D	0.91521	-2.49;-2.49;-2.49;-2.49;-2.86	5.4	5.4	0.78164	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.306560	0.37012	N	0.002282	T	0.68449	0.3002	N	0.00436	-1.5	0.39211	D	0.96331	B;B;B;B;B	0.15141	0.002;0.012;0.003;0.003;0.002	B;B;B;B;B	0.20184	0.016;0.012;0.028;0.028;0.016	T	0.71133	-0.4681	10	0.02654	T	1	-5.7904	12.8977	0.58109	0.0:0.1586:0.8414:0.0	.	126;112;153;152;153	G3V1J3;G3XAC4;B3KM98;O75027;O75027-2	.;.;.;ABCB7_HUMAN;.	V	126;153;112;152;126;97;165	ENSP00000253577:A153V;ENSP00000343849:A112V;ENSP00000362492:A152V;ENSP00000436586:A126V;ENSP00000435521:A97V	ENSP00000253577:A153V	A	-	2	0	ABCB7	74213213	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.129000	0.50500	2.252000	0.74401	0.544000	0.68410	GCC		0.318	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299	Missense_Mutation	3	35	0	0	0	1	0	3	35					A	74296488	G	A	74296488	5	1	464	1	0	0	0	0	0	0	1	0	46	1217	42	2	1851	2	ABCB7	23	74296488	Splice_Site	SNP	G	TCGA-J8-A3NZ-01A-11D-A21A-08		74296488	80974072	27	9528											
DCX	1641	broad.mit.edu	37	chrX	110654079	110654079	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgactaacagttgtaaatgAatccatagcctgacaaaatt	6	7	0	3			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chrX:110654079A>C	ENST00000338081.3	-	1	295	c.124T>G	c.(124-126)Tca>Gca	p.S42A	DCX_ENST00000356915.2_Intron|DCX_ENST00000488120.1_Intron|DCX_ENST00000356220.3_Intron|DCX_ENST00000496551.1_Intron|DCX_ENST00000371993.2_Intron	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	42					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						GTTGTAAATGAATCCATAGCC	0.423																																						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.(124-126)Tca>Gca		doublecortin							209	183	192					X																	110654079		2203	4300	6503	SO:0001583	missense	1641				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	g.chrX:110654079A>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.124T>G	X.37:g.110654079A>C	ENSP00000337697:p.Ser42Ala					DCX_ENST00000356915.2_Intron|DCX_ENST00000356220.3_Intron|DCX_ENST00000496551.1_Intron|DCX_ENST00000371993.2_Intron|DCX_ENST00000488120.1_Intron	p.S42A	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN			1	295	-			42					A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	37	c.124T>G	CCDS14556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.98|11.98	1.801176|1.801176	0.31869|0.31869	.|.	.|.	ENSG00000077279|ENSG00000077279	ENST00000358070|ENST00000338081	.|T	.|0.26223	.|1.75	4.4|4.4	3.23|3.23	0.37069|0.37069	.|.	.|0.241990	.|0.21715	.|N	.|0.070201	T|T	0.13072|0.13072	0.0317|0.0317	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|B;B	.|0.16802	.|0.019;0.019	.|B;B	.|0.17098	.|0.017;0.017	T|T	0.06092|0.06092	-1.0846|-1.0846	5|10	.|0.87932	.|D	.|0	.|.	8.229|8.229	0.31587|0.31587	0.9056:0.0:0.0944:0.0|0.9056:0.0:0.0944:0.0	.|.	.|30;42	.|B4DM53;O43602	.|.;DCX_HUMAN	M|A	33|42	.|ENSP00000337697:S42A	.|ENSP00000337697:S42A	I|S	-|-	3|1	3|0	DCX|DCX	110540735|110540735	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.812000|3.812000	0.55628|0.55628	0.812000|0.812000	0.34326|0.34326	0.411000|0.411000	0.27672|0.27672	ATT|TCA		0.423	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153		7	174	0	0	0	1	0	7	174					C	110654079	A	C	110654079	3	2	464	1	0	0	0	0	1	0	0	0	4318	246	9	5	1244	5	DCX	23	110654079	Missense_Mutation	SNP	A	TCGA-J8-A3NZ-01A-11D-A21A-08	36357591	110654079	44616481	28	9529											
CD99L2	83692	broad.mit.edu	37	chrX	149937526	149937528	+	In_Frame_Del	DEL	GGC	GGC	-													ctcagatccgggctggttcgGgcggcggcggcggctctgca					rs7877654	byFrequency	TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chrX:149937526_149937528delGGC	ENST00000370377.3	-	11	885_887	c.768_770delGCC	c.(766-771)ccgccc>ccc	p.256_257PP>P	CD99L2_ENST00000437787.2_In_Frame_Del_p.183_184PP>P|CD99L2_ENST00000466436.1_In_Frame_Del_p.207_208PP>P|CD99L2_ENST00000355149.3_In_Frame_Del_p.184_185PP>P|CD99L2_ENST00000346693.4_5'UTR	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	256	Poly-Pro.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGGTTCGGGCGGCGGCGGCG	0.611																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(766-771)ccc>cc		CD99 molecule-like 2																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149937526_149937528delGGC	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"MIC2 like 1", "CD99 antigen-like 2"	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.768_770delGCC	X.37:g.149937535_149937537delGGC	ENSP00000359403:p.Pro257del					CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del|CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del|CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del	p.PP256del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			11	885_887	-	Acute lymphoblastic leukemia(192;6.56e-05)		256			Poly-Pro.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.768_770delGCC	CCDS35427.1																																																																																				0.611	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		8	453						8	453	---	---	---	---	-	149937528	GGC	-	149937526	7	5	464	1	0	1	0	1	0	0	0	0	3051	1232	43	0	22	0	CD99L2	23	149937526	In_Frame_Del	DEL	GGC	TCGA-J8-A3NZ-01A-11D-A21A-08	39283447	149937526	5333034	29	9530											
ZNF185	7739	broad.mit.edu	37	chrX	152087589	152087589	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgaggaggaggaggaggaggAggtggtgccattctcctcag	19	7	2	0			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chrX:152087589A>T	ENST00000370268.4	+	7	531	c.494A>T	c.(493-495)gAg>gTg	p.E165V	ZNF185_ENST00000318529.8_Missense_Mutation_p.E30V|ZNF185_ENST00000539731.1_Missense_Mutation_p.E165V|ZNF185_ENST00000535861.1_Missense_Mutation_p.E165V|ZNF185_ENST00000318504.7_Missense_Mutation_p.E165V|ZNF185_ENST00000370270.2_Missense_Mutation_p.E165V|ZNF185_ENST00000449285.2_Missense_Mutation_p.E165V|ZNF185_ENST00000324823.6_Missense_Mutation_p.E30V			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	165	Poly-Glu.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.E25V(1)|p.E165V(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					gaggaggaggaggTGGTGCCA	0.582																																						ENST00000535861.1																			2	Substitution - Missense(2)	p.E25V(1)|p.E165V(1)	large_intestine(2)	NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12						c.(493-495)gAg>gTg		zinc finger protein 185 (LIM domain)							57	56	56					X																	152087589		2038	4148	6186	SO:0001583	missense	7739					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding	g.chrX:152087589A>T	AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"Zinc fingers, C2H2-type"	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.494A>T	X.37:g.152087589A>T	ENSP00000359291:p.Glu165Val					ZNF185_ENST00000370268.4_Missense_Mutation_p.E165V|ZNF185_ENST00000318529.8_Missense_Mutation_p.E30V|ZNF185_ENST00000539731.1_Missense_Mutation_p.E165V|ZNF185_ENST00000449285.2_Missense_Mutation_p.E165V|ZNF185_ENST00000370270.1_Missense_Mutation_p.E25V|ZNF185_ENST00000318504.7_Missense_Mutation_p.E165V|ZNF185_ENST00000324823.6_Missense_Mutation_p.E30V	p.E165V	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN			7	542	+	Acute lymphoblastic leukemia(192;6.56e-05)		165			Poly-Glu.		A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Missense_Mutation	SNP	ENST00000370268.4	37	c.494A>T	CCDS48184.1	.	.	.	.	.	.	.	.	.	.	A	14.06	2.422547	0.43020	.	.	ENSG00000147394	ENST00000535861;ENST00000539731;ENST00000449285;ENST00000318504;ENST00000535156;ENST00000324823;ENST00000433245;ENST00000370268;ENST00000318529;ENST00000370270	T;T;T;T;T	0.49432	0.78;0.8;0.8;0.81;0.8	0.436	0.436	0.16549	.	.	.	.	.	T	0.40546	0.1121	N	0.08118	0	0.22693	N	0.998848	D;P;P;P;P;P;P	0.55172	0.97;0.862;0.89;0.89;0.89;0.89;0.89	B;B;P;P;P;P;P	0.61397	0.427;0.188;0.607;0.607;0.888;0.607;0.607	T	0.27673	-1.0067	8	0.59425	D	0.04	.	.	.	.	.	165;165;165;165;165;165;30	O15231-3;B8K2L9;B8K2M0;F5GZL4;F5GXF7;O15231;F8W8V7	.;.;.;.;.;ZN185_HUMAN;.	V	165;165;165;165;30;30;30;165;30;25	ENSP00000440847:E165V;ENSP00000444367:E165V;ENSP00000395228:E165V;ENSP00000312782:E165V;ENSP00000359291:E165V	ENSP00000312782:E165V	E	+	2	0	ZNF185	151838245	0.970000	0.33590	0.833000	0.33012	0.266000	0.26442	1.141000	0.31528	0.360000	0.24265	0.158000	0.16466	GAG		0.582	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150		3	49	0	0	0	1	0	3	49					T	152087589	A	T	152087589	3	4	464	1	0	0	0	0	1	0	0	0	17749	304	11	5	535	5	ZNF185	23	152087589	Missense_Mutation	SNP	A	TCGA-J8-A3NZ-01A-11D-A21A-08	2150063	152087589	3182971	30	9531											
DNAJC11	55735	broad.mit.edu	37	chr1	6696245	6696245	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggacgccccggaactgaTagagcactttcaggttcttc	11	12	2	2			TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr1:6696245T>C	ENST00000377577.5	-	15	1709	c.1586A>G	c.(1585-1587)tAt>tGt	p.Y529C	DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000294401.7_Missense_Mutation_p.Y477C|DNAJC11_ENST00000542246.1_Missense_Mutation_p.Y491C|DNAJC11_ENST00000377573.5_Missense_Mutation_p.Y439C	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	529						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CCGGAACTGATAGAGCACTTT	0.547																																						ENST00000377577.5																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32						c.(1585-1587)tAt>tGt		DnaJ (Hsp40) homolog, subfamily C, member 11							89	78	82					1																	6696245		2203	4300	6503	SO:0001583	missense	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6696245T>C	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"Heat shock proteins / DNAJ (HSP40)"	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.1586A>G	1.37:g.6696245T>C	ENSP00000366800:p.Tyr529Cys					DNAJC11_ENST00000377573.5_Missense_Mutation_p.Y439C|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000294401.7_Missense_Mutation_p.Y477C|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000542246.1_Missense_Mutation_p.Y491C	p.Y529C	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	15	1709	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	529					Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Missense_Mutation	SNP	ENST00000377577.5	37	c.1586A>G	CCDS87.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.401009	0.83120	.	.	ENSG00000007923	ENST00000377577;ENST00000294401;ENST00000542246;ENST00000377573	T;T;T;T	0.70869	0.2;0.2;-0.04;-0.52	5.52	5.52	0.82312	DnaJ-like protein C11, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88640	0.6491	H	0.95114	3.625	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	0.91921	0.5547	10	0.87932	D	0	-18.2713	14.8449	0.70254	0.0:0.0:0.0:1.0	.	439;477;529	B4DGD5;Q9NVH1-3;Q9NVH1	.;.;DJC11_HUMAN	C	529;477;491;439	ENSP00000366800:Y529C;ENSP00000294401:Y477C;ENSP00000444020:Y491C;ENSP00000366796:Y439C	ENSP00000294401:Y477C	Y	-	2	0	DNAJC11	6618832	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.502000	0.81614	2.095000	0.63458	0.533000	0.62120	TAT		0.547	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		22	55	0	0	0	0.016522	0	22	55					C	6696245	T	C	6696245	3	2	465	1	0	0	0	0	1	0	0	0	4630	1406	49	3	101	3	DNAJC11	1	6696245	Missense_Mutation	SNP	T	TCGA-J8-A3O0-01A-11D-A21A-08		6696245	242554376	1	9532											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290	byFrequency	TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		neuroblastoma RAS viral (v-ras) oncogene homolog							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		62	78	0	0	0	0.01441	0	62	78					C	115256529	T	C	115256529	3	2	465	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-J8-A3O0-01A-11D-A21A-08	108560284	115256529	133994092	2	9533											
NBPF14	25832	broad.mit.edu	37	chr1	148012561	148012562	+	Frame_Shift_Del	DEL	AT	AT	-													aatgcataaaaggaacttccAtagggctggcaggagtcagg					rs587658653	byFrequency	TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr1:148012561_148012562delAT	ENST00000369219.1	-	12	1413_1414	c.1397_1398delAT	c.(1396-1398)tatfs	p.Y466fs				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	466	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AGGAACTTCCATAGGGCTGGCA	0.47																																						ENST00000369219.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42						c.(1396-1398)tfs		neuroblastoma breakpoint family, member 14																																				SO:0001589	frameshift_variant	25832					cytoplasm		g.chr1:148012561_148012562delAT	AK092351		1q21.1	2013-01-17			ENSG00000122497			"neuroblastoma breakpoint family"	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.1397_1398delAT	1.37:g.148012561_148012562delAT	ENSP00000358221:p.Tyr466fs						p.Y466fs			Q5TI25	NBPFE_HUMAN			12	1413_1414	-	all_hematologic(923;0.032)		466			NBPF 5.		Q5TI23|Q8IX76|Q9UJI9	Frame_Shift_Del	DEL	ENST00000369219.1	37	c.1397_1398delAT																																																																																					0.47	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		2	4						2	4	---	---	---	---	-	148012562	AT	-	148012561	7	5	465	1	0	1	0	1	0	0	0	0	10194	224	8	0	1411	0	NBPF14	1	148012561	Frame_Shift_Del	DEL	AT	TCGA-J8-A3O0-01A-11D-A21A-08	32756032	148012561	101238060	3	9534											
FN1	2335	broad.mit.edu	37	chr2	216285470	216285470	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcatgtgcccctcttcatgaCgcttgtggaatgtgtcgttc	11	11	2	1	rs142165052	byFrequency	TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr2:216285470C>G	ENST00000359671.1	-	11	1866	c.1601G>C	c.(1600-1602)cGt>cCt	p.R534P	FN1_ENST00000421182.1_Missense_Mutation_p.R534P|FN1_ENST00000357867.4_Missense_Mutation_p.R534P|FN1_ENST00000446046.1_Missense_Mutation_p.R534P|FN1_ENST00000443816.1_Missense_Mutation_p.R534P|FN1_ENST00000356005.4_Missense_Mutation_p.R534P|FN1_ENST00000354785.4_Missense_Mutation_p.R534P|FN1_ENST00000323926.6_Missense_Mutation_p.R534P|FN1_ENST00000432072.2_Missense_Mutation_p.R534P|FN1_ENST00000345488.5_Missense_Mutation_p.R534P|FN1_ENST00000426059.1_Missense_Mutation_p.R534P|FN1_ENST00000336916.4_Missense_Mutation_p.R534P|FN1_ENST00000346544.3_Missense_Mutation_p.R534P|FN1_ENST00000357009.2_Missense_Mutation_p.R534P			P02751	FINC_HUMAN	fibronectin 1	534	Collagen-binding.|Fibronectin type-I 8. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CTCTTCATGACGCTTGTGGAA	0.478																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(1600-1602)cGt>cCt		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						192	150	164					2																	216285470		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216285470C>G		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.1601G>C	2.37:g.216285470C>G	ENSP00000352696:p.Arg534Pro					FN1_ENST00000446046.1_Missense_Mutation_p.R534P|FN1_ENST00000443816.1_Missense_Mutation_p.R534P|FN1_ENST00000432072.2_Missense_Mutation_p.R534P|FN1_ENST00000359671.1_Missense_Mutation_p.R534P|FN1_ENST00000357867.4_Missense_Mutation_p.R534P|FN1_ENST00000357009.2_Missense_Mutation_p.R534P|FN1_ENST00000356005.4_Missense_Mutation_p.R534P|FN1_ENST00000346544.3_Missense_Mutation_p.R534P|FN1_ENST00000345488.5_Missense_Mutation_p.R534P|FN1_ENST00000336916.4_Missense_Mutation_p.R534P|FN1_ENST00000323926.6_Missense_Mutation_p.R534P|FN1_ENST00000421182.1_Missense_Mutation_p.R534P|FN1_ENST00000426059.1_Missense_Mutation_p.R534P	p.R534P			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	11	1970	-		Renal(323;0.127)	534			Collagen-binding.|Fibronectin type-I 8.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.1601G>C		.	.	.	.	.	.	.	.	.	.	C	35	5.415201	0.96092	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000001	T	0.59824	0.2222	L	0.56396	1.775	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	0.994;1.0;0.999;0.997;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	0.99;0.999;0.99;0.952;1.0;1.0;0.995;0.999;1.0;1.0;0.999	T	0.60042	-0.7340	10	0.87932	D	0	.	19.9225	0.97093	0.0:1.0:0.0:0.0	.	534;534;534;534;534;534;534;534;534;534;534	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	P	534	ENSP00000394423:R534P;ENSP00000323534:R534P;ENSP00000338200:R534P;ENSP00000350534:R534P;ENSP00000346839:R534P;ENSP00000352696:R534P;ENSP00000265312:R534P;ENSP00000273049:R534P;ENSP00000349509:R534P;ENSP00000410422:R534P;ENSP00000415018:R534P;ENSP00000399538:R534P;ENSP00000348285:R534P;ENSP00000398907:R534P	ENSP00000265313:R534P	R	-	2	0	FN1	215993715	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.776000	0.85560	2.780000	0.95670	0.655000	0.94253	CGT		0.478	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		23	46	0	0	0	0.005443	0	23	46					G	216285470	C	G	216285470	3	3	465	1	0	0	0	0	1	0	0	0	5962	536	19	4	6009	4	FN1	2	216285470	Missense_Mutation	SNP	C	TCGA-J8-A3O0-01A-11D-A21A-08		216285470	26913903	4	9535											
FANCD2	2177	broad.mit.edu	37	chr3	10106101	10106101	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcgtagtggactcctgtgTtgttccggaagggtaggtat	14	7	0	0			TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr3:10106101T>C	ENST00000419585.1	+	22	2170	c.2009T>C	c.(2008-2010)gTt>gCt	p.V670A	FANCD2_ENST00000287647.3_Missense_Mutation_p.V670A|FANCD2_ENST00000383807.1_Missense_Mutation_p.V670A|FANCD2_ENST00000383806.1_Missense_Mutation_p.V670A			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	670					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GACTCCTGTGTTGTTCCGGAA	0.458			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"D, Mis, N, F"	"Fanconi anemia, complementation group D2"			L		"AML, leukemia"			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(2008-2010)gTt>gCt	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							257	236	243					3																	10106101		2203	4300	6503	SO:0001583	missense	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10106101T>C	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"Fanconi anemia, complementation groups"	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2009T>C	3.37:g.10106101T>C	ENSP00000398754:p.Val670Ala					FANCD2_ENST00000383806.1_Missense_Mutation_p.V670A|FANCD2_ENST00000383807.1_Missense_Mutation_p.V670A|FANCD2_ENST00000419585.1_Missense_Mutation_p.V670A	p.V670A	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	22	2102	+			670					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.2009T>C	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	T	4.641	0.119185	0.08881	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.58	-11.2	0.00127	.	0.581511	0.19588	N	0.110684	T	0.13415	0.0325	N	0.04203	-0.255	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.18808	-1.0325	10	0.09590	T	0.72	.	14.2209	0.65826	0.2175:0.7014:0.0:0.0811	.	670;670	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	A	670	ENSP00000287647:V670A;ENSP00000373318:V670A;ENSP00000373317:V670A;ENSP00000398754:V670A	ENSP00000287647:V670A	V	+	2	0	FANCD2	10081101	0.000000	0.05858	0.000000	0.03702	0.742000	0.42306	-1.757000	0.01811	-2.571000	0.00468	0.477000	0.44152	GTT		0.458	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			28	68	0	0	0	0.01441	0	28	68					C	10106101	T	C	10106101	3	2	465	1	0	0	0	0	1	0	0	0	5665	1725	60	3	2091	3	FANCD2	3	10106101	Missense_Mutation	SNP	T	TCGA-J8-A3O0-01A-11D-A21A-08		10106101	187916329	5	9536											
GOLGB1	2804	broad.mit.edu	37	chr3	121410314	121410316	+	In_Frame_Del	DEL	CTA	CTA	-													taactgggcatgatagagtcCtaaagtaccttcttcttgca							TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr3:121410314_121410316delCTA	ENST00000340645.5	-	14	8005_8007	c.7880_7882delTAG	c.(7879-7884)ttagga>tga	p.2627_2628LG>*	GOLGB1_ENST00000393667.3_In_Frame_Del_p.2632_2633LG>*	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2627					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGATAGAGTCCTAAAGTACCTTC	0.369																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(7894-7899)tga>t		golgin B1																																				SO:0001651	inframe_deletion	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121410314_121410316delCTA	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.7880_7882delTAG	3.37:g.121410314_121410316delCTA	ENSP00000341848:p.Leu2627_Gly2628delins*					GOLGB1_ENST00000340645.5_In_Frame_Del_p.LG2627del	p.LG2632del	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	14	8005_8007	-			2627					B2ZZ91|D3DN92|E7EP74|Q14398	In_Frame_Del	DEL	ENST00000340645.5	37	c.7895_7897delTAG	CCDS3004.1																																																																																				0.369	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		9	25						9	25	---	---	---	---	-	121410316	CTA	-	121410314	7	5	465	1	0	1	0	1	0	0	0	0	6565	690	24	0	1933	0	GOLGB1	3	121410314	In_Frame_Del	DEL	CTA	TCGA-J8-A3O0-01A-11D-A21A-08	111304213	121410314	76612116	6	9537											
BMP3	651	broad.mit.edu	37	chr4	81952594	81952594	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggactccgagctgcagccGcaagacaaggtctctgaaca	11	14	1	2			TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr4:81952594G>A	ENST00000282701.2	+	1	476	c.156G>A	c.(154-156)ccG>ccA	p.P52P		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	52					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						AGCTGCAGCCGCAAGACAAGG	0.672																																						ENST00000282701.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(154-156)ccG>ccA		bone morphogenetic protein 3							29	32	31					4																	81952594		2203	4298	6501	SO:0001819	synonymous_variant	651				cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr4:81952594G>A	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"Bone morphogenetic proteins"	1070	protein-coding gene	gene with protein product	"osteogenin"	112263	"bone morphogenetic protein 3 (osteogenic)"				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.156G>A	4.37:g.81952594G>A							p.P52P	NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN			1	476	+			52					Q4VAS5	Silent	SNP	ENST00000282701.2	37	c.156G>A	CCDS3588.1																																																																																				0.672	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			3	44	0	0	0	0.014758	0	3	44					A	81952594	G	A	81952594	2	1	465	1	0	0	0	0	0	0	0	1	1461	1074	38	1		1	BMP3	4	81952594	Silent	SNP	G	TCGA-J8-A3O0-01A-11D-A21A-08		81952594	109201682	7	9538											
SAAL1	113174	broad.mit.edu	37	chr11	18111042	18111042	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtccacaacctcccccaccTtcaccagcaagtcaactgca	4	19	2	0			TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr11:18111042T>G	ENST00000524803.1	-	7	654	c.605A>C	c.(604-606)aAg>aCg	p.K202T	SAAL1_ENST00000529318.1_Missense_Mutation_p.K202T|SAAL1_ENST00000533851.1_5'UTR|SAAL1_ENST00000300013.4_Missense_Mutation_p.K202T			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	202										breast(2)|large_intestine(5)|lung(8)	15						CTCCCCCACCTTCACCAGCAA	0.418																																						ENST00000524803.1																			0				breast(2)|large_intestine(5)|lung(8)	15						c.(604-606)aAg>aCg		serum amyloid A-like 1							68	64	66					11																	18111042		2200	4293	6493	SO:0001583	missense	113174				acute-phase response	extracellular region	binding	g.chr11:18111042T>G	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.605A>C	11.37:g.18111042T>G	ENSP00000432487:p.Lys202Thr					SAAL1_ENST00000529318.1_Missense_Mutation_p.K202T|SAAL1_ENST00000300013.4_Missense_Mutation_p.K202T|SAAL1_ENST00000533851.1_5'UTR	p.K202T			Q96ER3	SAAL1_HUMAN			7	654	-			202					A6NH05	Missense_Mutation	SNP	ENST00000524803.1	37	c.605A>C	CCDS31439.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.945256	0.73672	.	.	ENSG00000166788	ENST00000524803;ENST00000300013;ENST00000530436;ENST00000531751;ENST00000529318;ENST00000530180	T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28	5.57	5.57	0.84162	Armadillo-like helical (1);Armadillo-type fold (1);	0.109289	0.64402	D	0.000005	T	0.54271	0.1848	M	0.66939	2.045	0.41074	D	0.985476	D;D;D	0.60575	0.988;0.988;0.988	P;P;P	0.60236	0.871;0.871;0.871	T	0.57100	-0.7869	10	0.52906	T	0.07	-17.9516	14.3138	0.66434	0.0:0.0:0.0:1.0	.	202;202;202	E9PRZ1;G1UCX3;Q96ER3	.;.;SAAL1_HUMAN	T	202;202;39;91;202;191	ENSP00000432487:K202T;ENSP00000300013:K202T;ENSP00000432044:K39T;ENSP00000436031:K91T;ENSP00000432216:K202T;ENSP00000431489:K191T	ENSP00000300013:K202T	K	-	2	0	SAAL1	18067618	1.000000	0.71417	0.967000	0.41034	0.923000	0.55619	6.648000	0.74359	2.114000	0.64651	0.533000	0.62120	AAG		0.418	SAAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389728.1	NM_138421		11	29	0	0	0	0.010729	0	11	29					G	18111042	T	G	18111042	3	3	465	1	0	0	0	0	1	0	0	0	13801	1609	56	5	843	5	SAAL1	11	18111042	Missense_Mutation	SNP	T	TCGA-J8-A3O0-01A-11D-A21A-08		18111042	116895474	8	9539											
LTBP3	4054	broad.mit.edu	37	chr11	65319868	65319868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacacaggctcttctcctccGgtttgtctgctgcaggggcc	11	14	3	0			TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr11:65319868G>A	ENST00000301873.5	-	7	1464	c.1196C>T	c.(1195-1197)cCg>cTg	p.P399L	LTBP3_ENST00000536982.1_Missense_Mutation_p.P25L|LTBP3_ENST00000322147.4_Missense_Mutation_p.P399L	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	399					bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CTTCTCCTCCGGTTTGTCTGC	0.667											OREG0021081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000301873.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						c.(1195-1197)cCg>cTg		latent transforming growth factor beta binding protein 3							51	59	56					11																	65319868		2201	4297	6498	SO:0001583	missense	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65319868G>A	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"Latent transforming growth factor, beta binding proteins"	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.1196C>T	11.37:g.65319868G>A	ENSP00000301873:p.Pro399Leu		OREG0021081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1083	LTBP3_ENST00000536982.1_Missense_Mutation_p.P25L|LTBP3_ENST00000322147.4_Missense_Mutation_p.P399L	p.P399L	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN			7	1464	-			399					O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	ENST00000301873.5	37	c.1196C>T	CCDS44647.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210295	0.79240	.	.	ENSG00000168056	ENST00000322147;ENST00000301873;ENST00000536982;ENST00000530866;ENST00000530426	D;D;D;T;T	0.93547	-3.24;-1.5;-3.24;-1.42;2.11	3.99	3.99	0.46301	Matrix fibril-associated (1);	0.000000	0.85682	D	0.000000	D	0.91264	0.7246	N	0.17278	0.47	0.58432	D	0.999998	D;D;D;D;D	0.76494	0.99;0.996;0.99;0.987;0.999	P;P;B;B;P	0.59643	0.482;0.742;0.409;0.401;0.861	D	0.89448	0.3728	10	0.25106	T	0.35	.	13.6128	0.62091	0.0:0.0:1.0:0.0	.	310;25;282;399;399	E9PKW1;F5GWC4;B9EG76;Q9NS15;Q9NS15-2	.;.;.;LTBP3_HUMAN;.	L	399;399;25;310;79	ENSP00000326647:P399L;ENSP00000301873:P399L;ENSP00000441912:P25L;ENSP00000435276:P310L;ENSP00000432476:P79L	ENSP00000301873:P399L	P	-	2	0	LTBP3	65076444	0.995000	0.38212	0.992000	0.48379	0.898000	0.52572	3.734000	0.55037	2.064000	0.61679	0.407000	0.27541	CCG		0.667	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		43	68	0	0	0	0.01441	0	43	68					A	65319868	G	A	65319868	3	1	465	1	0	0	0	0	1	0	0	0	9075	1116	39	1	2803	1	LTBP3	11	65319868	Missense_Mutation	SNP	G	TCGA-J8-A3O0-01A-11D-A21A-08	47208826	65319868	69686648	9	9540											
HEXA	3073	broad.mit.edu	37	chr15	72640388	72640388	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccctccttccttcctcaCgtctggatgtagaaggactc	7	16	2	1	rs76173977	byFrequency	TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr15:72640388C>T	ENST00000268097.5	-	9	1577		c.e9+1		HEXA_ENST00000429918.2_Splice_Site|HEXA_ENST00000566304.1_Splice_Site|HEXA_ENST00000457859.2_Splice_Site|RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000567159.1_Splice_Site|RP11-106M3.2_ENST00000379915.4_RNA	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)						carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						TCCTTCCTCACGTCTGGATGT	0.577													C|||	2	0.000399361	0	0	5008	,	,		12621	0		0.002	False		,,,				2504	0					ENST00000268097.5																			0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24	GRCh37	CS910444	HEXA	S	rs76173977	c.e9+1		hexosaminidase A (alpha polypeptide)		C		0,4398		0,0,2199	60	60	60			5.6	1.0	15	dbSNP_132	60	4,8590	3.7+/-12.6	0,4,4293	yes	splice-5	HEXA	NM_000520.4		0,4,6492	TT,TC,CC		0.0465,0.0,0.0308			72640388	4,12988	2199	4297	6496	SO:0001630	splice_region_variant	3073				cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity	g.chr15:72640388C>T	M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"Tay Sachs disease", "GM2 gangliosidosis"	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.1073+1G>A	15.37:g.72640388C>T						HEXA_ENST00000429918.2_Splice_Site|RP11-106M3.3_ENST00000570175.1_RNA|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000457859.2_Splice_Site|HEXA_ENST00000567159.1_Splice_Site|HEXA_ENST00000566304.1_Splice_Site		NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN			9	1577	-								B4DKE7|E7ENH7|Q53HS8|Q6AI32	Splice_Site	SNP	ENST00000268097.5	37		CCDS10243.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	27.0	4.795659	0.90453	0.0	4.65E-4	ENSG00000213614	ENST00000268097;ENST00000457859;ENST00000429918	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6854	0.88255	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HEXA	70427442	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.258000	0.78371	2.594000	0.87642	0.655000	0.94253	.		0.577	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2	NM_000520	Intron	8	22	0	0	0	0.006214	0	8	22					T	72640388	C	T	72640388	5	4	465	1	0	0	0	0	0	0	1	0	7073	550	19	1	539	1	HEXA	15	72640388	Splice_Site	SNP	C	TCGA-J8-A3O0-01A-11D-A21A-08		72640388	29891004	10	9541											
OTOA	146183	broad.mit.edu	37	chr16	21726416	21726416	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcaggtcctgagaagtgcCgtctcccagtatgtatccga	11	12	1	1			TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr16:21726416C>T	ENST00000286149.4	+	13	1474	c.1473C>T	c.(1471-1473)gcC>gcT	p.A491A	OTOA_ENST00000388956.4_Silent_p.A398A|OTOA_ENST00000388957.3_Silent_p.A153A|OTOA_ENST00000388958.3_Silent_p.A477A			Q7RTW8	OTOAN_HUMAN	otoancorin	491					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TGAGAAGTGCCGTCTCCCAGT	0.577																																						ENST00000388958.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46						c.(1429-1431)gcC>gcT		otoancorin							233	211	218					16																	21726416		2199	4300	6499	SO:0001819	synonymous_variant	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21726416C>T	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"cancer/testis antigen 108"	607038	"deafness, autosomal recessive 22"	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.1473C>T	16.37:g.21726416C>T						OTOA_ENST00000388957.3_Silent_p.A153A|OTOA_ENST00000388956.4_Silent_p.A398A|OTOA_ENST00000286149.4_Silent_p.A491A	p.A477A	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	13	1432	+			491					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Silent	SNP	ENST00000286149.4	37	c.1431C>T																																																																																					0.577	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			8	355	0	0	0	0.013537	0	8	355					T	21726416	C	T	21726416	2	4	465	1	0	0	0	0	0	0	0	1	11302	639	23	1		1	OTOA	16	21726416	Silent	SNP	C	TCGA-J8-A3O0-01A-11D-A21A-08		21726416	68628337	11	9542											
SETD6	79918	broad.mit.edu	37	chr16	58549787	58549787	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctggagctgagtcccaaggtGagcgagcgagccggcgggcg	19	11	0	2			TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr16:58549787G>A	ENST00000219315.4	+	2	170	c.120G>A	c.(118-120)gtG>gtA	p.V40V	SETD6_ENST00000418480.1_Intron|SETD6_ENST00000394266.4_Intron|SETD6_ENST00000310682.2_Intron			Q8TBK2	SETD6_HUMAN	SET domain containing 6	40					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|peptidyl-lysine monomethylation (GO:0018026)|regulation of inflammatory response (GO:0050727)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						GTCCCAAGGTGAGCGAGCGAg	0.756																																						ENST00000219315.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						c.(118-120)gtG>gtA		SET domain containing 6							4	6	5					16																	58549787		2001	3990	5991	SO:0001819	synonymous_variant	79918				negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity	g.chr16:58549787G>A	AK024801	CCDS10798.1, CCDS54013.1	16q21	2008-02-05			ENSG00000103037	ENSG00000103037			26116	protein-coding gene	gene with protein product						12477932	Standard	NM_024860		Approved	FLJ21148	uc002ens.3	Q8TBK2	OTTHUMG00000150276	ENST00000219315.4:c.120G>A	16.37:g.58549787G>A						SETD6_ENST00000394266.4_Intron|SETD6_ENST00000310682.2_Intron|SETD6_ENST00000418480.1_Intron	p.V40V			Q8TBK2	SETD6_HUMAN			2	170	+			40			SET.		A8K380|B5ME38|Q9H787	Silent	SNP	ENST00000219315.4	37	c.120G>A	CCDS54013.1																																																																																				0.756	SETD6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317274.2	NM_024860		4	13	0	0	0	0.009096	0	4	13					A	58549787	G	A	58549787	2	1	465	1	0	0	0	0	0	0	0	1	14135	1277	45	2		2	SETD6	16	58549787	Silent	SNP	G	TCGA-J8-A3O0-01A-11D-A21A-08	36823371	58549787	31804966	12	9543											
SLC43A2	124935	broad.mit.edu	37	chr17	1479938	1479938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcatggccagaaacagcgGctgctgcagaagggcgaaga	14	10	1	3			TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr17:1479938G>A	ENST00000301335.5	-	13	1589	c.1501C>T	c.(1501-1503)Ccg>Tcg	p.P501S	SLC43A2_ENST00000382147.4_Missense_Mutation_p.P505S|SLC43A2_ENST00000412517.3_Missense_Mutation_p.P364S|SLC43A2_ENST00000571650.1_Missense_Mutation_p.P505S	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	501					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)		AGAAACAGCGGCTGCTGCAGA	0.642																																						ENST00000571650.1																			0				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12						c.(1513-1515)Ccg>Tcg		solute carrier family 43 (amino acid system L transporter), member 2							40	40	40					17																	1479938		2203	4299	6502	SO:0001583	missense	124935				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chr17:1479938G>A	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.1501C>T	17.37:g.1479938G>A	ENSP00000301335:p.Pro501Ser					SLC43A2_ENST00000382147.4_Missense_Mutation_p.P505S|SLC43A2_ENST00000301335.4_Missense_Mutation_p.P501S|SLC43A2_ENST00000412517.3_Missense_Mutation_p.P364S	p.P505S			Q8N370	LAT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)	14	1819	-			501					B7Z6X9|C9JNU8|D3DTH9|Q5CD75|Q6IPM1|Q8NBX1|Q8NC21|Q8WZ00	Missense_Mutation	SNP	ENST00000301335.5	37	c.1513C>T	CCDS11006.1	.	.	.	.	.	.	.	.	.	.	G	33	5.274700	0.95459	.	.	ENSG00000167703	ENST00000301335;ENST00000382147;ENST00000412517	T;T;T	0.80824	-1.42;-1.42;-1.42	5.8	5.8	0.92144	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.91540	0.7328	M	0.88310	2.945	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.77557	0.959;0.99	D	0.91130	0.4937	10	0.45353	T	0.12	-0.1248	19.6581	0.95851	0.0:0.0:1.0:0.0	.	501;505	Q8N370;Q8N370-3	LAT4_HUMAN;.	S	501;505;364	ENSP00000301335:P501S;ENSP00000371582:P505S;ENSP00000408284:P364S	ENSP00000301335:P501S	P	-	1	0	SLC43A2	1426688	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.170000	0.94795	2.735000	0.93741	0.655000	0.94253	CCG		0.642	SLC43A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206717.4	NM_152346		3	59	0	0	0	0.009096	0	3	59					A	1479938	G	A	1479938	3	1	465	1	0	0	0	0	1	0	0	0	14633	1203	42	2	216	2	SLC43A2	17	1479938	Missense_Mutation	SNP	G	TCGA-J8-A3O0-01A-11D-A21A-08		1479938	79715272	13	9544											
SERTAD3	29946	broad.mit.edu	37	chr19	40947564	40947564	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atccaggccagagtcccccaAgtaccgggagctcagagctt	11	14	1	2			TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr19:40947564A>C	ENST00000322354.3	-	2	920	c.424T>G	c.(424-426)Ttg>Gtg	p.L142V	SERTAD3_ENST00000601217.1_5'Flank|CTC-492K19.4_ENST00000599050.1_RNA|SERTAD3_ENST00000392028.4_Missense_Mutation_p.L142V	NM_203344.2	NP_976219.1	Q9UJW9	SRTD3_HUMAN	SERTA domain containing 3	142					negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(1)|large_intestine(4)|lung(2)	7			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGTCCCCCAAGTACCGGGAG	0.572																																						ENST00000322354.3																			0				kidney(1)|large_intestine(4)|lung(2)	7						c.(424-426)Ttg>Gtg		SERTA domain containing 3							71	76	74					19																	40947564		2203	4300	6503	SO:0001583	missense	29946				negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr19:40947564A>C	AF192529	CCDS12558.1	19q13.2	2008-02-05				ENSG00000167565			17931	protein-coding gene	gene with protein product	"RPA-binding trans-activator"	612125				10982866, 11331592	Standard	NM_013368		Approved	RBT1	uc002onv.4	Q9UJW9		ENST00000322354.3:c.424T>G	19.37:g.40947564A>C	ENSP00000325414:p.Leu142Val					SERTAD3_ENST00000392028.4_Missense_Mutation_p.L142V	p.L142V	NM_203344.2	NP_976219.1	Q9UJW9	SRTD3_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		2	920	-			142					B3KQB3|Q96CQ2	Missense_Mutation	SNP	ENST00000322354.3	37	c.424T>G	CCDS12558.1	.	.	.	.	.	.	.	.	.	.	A	12.70	2.016010	0.35606	.	.	ENSG00000167565	ENST00000322354;ENST00000392028	.	.	.	6.0	-1.94	0.07571	.	0.000000	0.34628	N	0.003814	T	0.11110	0.0271	N	0.08118	0	0.25122	N	0.99064	P	0.43094	0.799	B	0.33339	0.162	T	0.32161	-0.9917	9	0.44086	T	0.13	0.2269	10.3001	0.43648	0.4986:0.0:0.5014:0.0	.	142	Q9UJW9	SRTD3_HUMAN	V	142	.	ENSP00000325414:L142V	L	-	1	2	SERTAD3	45639404	0.993000	0.37304	0.910000	0.35882	0.722000	0.41435	0.767000	0.26575	-0.102000	0.12197	-0.256000	0.11100	TTG		0.572	SERTAD3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462573.1	NM_013368		27	44	0	0	0	0.010818	0	27	44					C	40947564	A	C	40947564	3	2	465	1	0	0	0	0	1	0	0	0	14122	69	3	5	170	5	SERTAD3	19	40947564	Missense_Mutation	SNP	A	TCGA-J8-A3O0-01A-11D-A21A-08		40947564	18181419	14	9545											
EPS8L1	54869	broad.mit.edu	37	chr19	55593835	55593836	+	Frame_Shift_Ins	INS	-	-	G													tgacagattgtgaacacgtcINSgggggggccggagttcgcga							TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr19:55593835_55593836insG	ENST00000201647.6	+	12	1135_1136	c.1079_1080insG	c.(1078-1083)tcggggfs	p.SG360fs	EPS8L1_ENST00000588359.1_Intron|EPS8L1_ENST00000245618.5_Frame_Shift_Ins_p.SG233fs|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000586329.1_Frame_Shift_Ins_p.SG342fs|EPS8L1_ENST00000540810.1_Frame_Shift_Ins_p.SG296fs	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	360					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GTGAACACGTCGGGGGGGCCGG	0.663																																					Ovarian(149;255 1863 3636 27051 29647)	ENST00000201647.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12						c.(1078-1080)tggfs		EPS8-like 1																																				SO:0001589	frameshift_variant	54869					cytoplasm		g.chr19:55593835_55593836insG	AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.1086dupG	19.37:g.55593842_55593842dupG	ENSP00000201647:p.Ser360fs					EPS8L1_ENST00000588359.1_Intron|EPS8L1_ENST00000245618.5_Frame_Shift_Ins_p.W233fs|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000586329.1_Frame_Shift_Ins_p.W342fs|EPS8L1_ENST00000540810.1_Frame_Shift_Ins_p.W296fs	p.W360fs	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	12	1135_1136	+			360					Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Frame_Shift_Ins	INS	ENST00000201647.6	37	c.1079_1080insG	CCDS12914.1																																																																																				0.663	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729		7	181						7	181	---	---	---	---	G	55593836	-	G	55593835	7	5	465	1	0	1	1	0	0	0	0	0	5195	893	31	0	1173	0	EPS8L1	19	55593835	Frame_Shift_Ins	INS	-	TCGA-J8-A3O0-01A-11D-A21A-08	14646271	55593835	3535148	15	9546											
NKRF	55922	broad.mit.edu	37	chrX	118724002	118724002	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatactcaactgtcattcgGttaaactgagctgtgtcgtt	8	9	2	1			TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chrX:118724002G>A	ENST00000371527.1	-	2	2038	c.1386C>T	c.(1384-1386)aaC>aaT	p.N462N	NKRF_ENST00000487600.1_Intron|NKRF_ENST00000542113.1_Silent_p.N477N|NKRF_ENST00000304449.5_Silent_p.N462N	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	462					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						CTGTCATTCGGTTAAACTGAG	0.433																																						ENST00000371527.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						c.(1384-1386)aaC>aaT		NFKB repressing factor							105	98	100					X																	118724002		2203	4300	6503	SO:0001819	synonymous_variant	55922				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding	g.chrX:118724002G>A	AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"G patch domain containing"	19374	protein-coding gene	gene with protein product		300440	"NF-kappaB repressing factor"			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.1386C>T	X.37:g.118724002G>A						NKRF_ENST00000542113.1_Silent_p.N477N|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Silent_p.N462N	p.N462N	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN			2	2038	-			462					G3V1N1|Q4VC41|Q9UJ91	Silent	SNP	ENST00000371527.1	37	c.1386C>T	CCDS35375.1																																																																																				0.433	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	NM_017544		3	32	0	0	0	0.004672	0	3	32					A	118724002	G	A	118724002	2	1	465	1	0	0	0	0	0	0	0	1	10447	1252	44	2		2	NKRF	23	118724002	Silent	SNP	G	TCGA-J8-A3O0-01A-11D-A21A-08		118724002	36546558	16	9547											
LCE1E	353135	broad.mit.edu	37	chr1	152760020	152760020	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctgagccaccacaggcAccacaggtcccaccgtcaca	8	19	1	1			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr1:152760020A>G	ENST00000368770.3	+	2	298	c.245A>G	c.(244-246)cAc>cGc	p.H82R	LCE1E_ENST00000368771.1_Missense_Mutation_p.H82R	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	82	Cys-rich.				keratinization (GO:0031424)					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACCACAGGCACCACAGGTCC	0.697																																						ENST00000368770.3																			0				lung(5)|stomach(1)	6						c.(244-246)cAc>cGc		late cornified envelope 1E							38	48	45					1																	152760020		2198	4299	6497	SO:0001583	missense	353135				keratinization			g.chr1:152760020A>G	BC038391	CCDS1024.1	1q21.3	2008-02-05			ENSG00000186226	ENSG00000186226		"Late cornified envelopes"	29466	protein-coding gene	gene with protein product		612607				11698679	Standard	NM_178353		Approved	LEP5	uc001fan.3	Q5T753	OTTHUMG00000012405	ENST00000368770.3:c.245A>G	1.37:g.152760020A>G	ENSP00000357759:p.His82Arg					LCE1E_ENST00000368771.1_Missense_Mutation_p.H82R	p.H82R	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	298	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		82			Cys-rich.		D3DV30	Missense_Mutation	SNP	ENST00000368770.3	37	c.245A>G	CCDS1024.1	.	.	.	.	.	.	.	.	.	.	G	1.264	-0.615038	0.03663	.	.	ENSG00000186226	ENST00000368771;ENST00000368770	T;T	0.03242	4.0;4.0	4.06	-3.91	0.04168	.	1.035500	0.07789	N	0.954589	T	0.00440	0.0014	N	0.01297	-0.9	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49418	-0.8942	10	0.87932	D	0	.	6.5476	0.22414	0.374:0.404:0.2221:0.0	.	82	Q5T753	LCE1E_HUMAN	R	82	ENSP00000357760:H82R;ENSP00000357759:H82R	ENSP00000357759:H82R	H	+	2	0	LCE1E	151026644	0.002000	0.14202	0.872000	0.34217	0.012000	0.07955	-0.779000	0.04659	-1.006000	0.03412	-1.173000	0.01734	CAC		0.697	LCE1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034525.1	NM_178353		5	119	0	0	0	0.014758	0	5	119					G	152760020	A	G	152760020	3	3	466	1	0	0	0	0	1	0	0	0	8663	159	6	3	247	3	LCE1E	1	152760020	Missense_Mutation	SNP	A	TCGA-J8-A3O1-01A-11D-A21A-08		152760020	96490601	1	9548											
ATP2B4	493	broad.mit.edu	37	chr1	203680123	203680123	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggactccggactatctgcAtagcttaccgggacttcgat	10	11	1	0	rs530220412		TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr1:203680123A>G	ENST00000357681.5	+	12	3041	c.1918A>G	c.(1918-1920)Ata>Gta	p.I640V	ATP2B4_ENST00000367219.3_Missense_Mutation_p.I628V|ATP2B4_ENST00000341360.2_Missense_Mutation_p.I640V|ATP2B4_ENST00000367218.3_Missense_Mutation_p.I640V|ATP2B4_ENST00000391954.2_Missense_Mutation_p.I640V	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	640					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)			GACTATCTGCATAGCTTACCG	0.532																																						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.(1918-1920)Ata>Gta		ATPase, Ca++ transporting, plasma membrane 4							116	96	103					1																	203680123		2203	4300	6503	SO:0001583	missense	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203680123A>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.1918A>G	1.37:g.203680123A>G	ENSP00000350310:p.Ile640Val					ATP2B4_ENST00000391954.2_Missense_Mutation_p.I640V|ATP2B4_ENST00000341360.2_Missense_Mutation_p.I640V|ATP2B4_ENST00000367219.3_Missense_Mutation_p.I628V|ATP2B4_ENST00000367218.3_Missense_Mutation_p.I640V	p.I640V	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		12	3041	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		640					B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	c.1918A>G	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	A	10.56	1.383674	0.25031	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36	5.33	-2.64	0.06114	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.672540	0.13422	N	0.389072	T	0.37625	0.1010	N	0.10664	0.02	0.28344	N	0.9212	B;B;B	0.18013	0.025;0.002;0.025	B;B;B	0.16289	0.015;0.014;0.015	T	0.25984	-1.0116	10	0.18710	T	0.47	-5.4071	7.9587	0.30057	0.3253:0.474:0.0:0.2008	.	640;640;640	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	V	640;640;628;640;640	ENSP00000350310:I640V;ENSP00000356187:I640V;ENSP00000356188:I628V;ENSP00000375816:I640V;ENSP00000340930:I640V	ENSP00000340930:I640V	I	+	1	0	ATP2B4	201946746	0.713000	0.27926	0.846000	0.33378	0.990000	0.78478	0.040000	0.13905	-0.249000	0.09569	-0.340000	0.08031	ATA		0.532	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		42	82	0	0	0	0.139131	0	42	82					G	203680123	A	G	203680123	3	3	466	1	0	0	0	0	1	0	0	0	1142	217	8	3	1960	3	ATP2B4	1	203680123	Missense_Mutation	SNP	A	TCGA-J8-A3O1-01A-11D-A21A-08	50920103	203680123	45570498	2	9549											
CKAP2L	150468	broad.mit.edu	37	chr2	113513632	113513632	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggttgtgacatcagcttgaGttttgggagctgtcttgttc	13	7	2	2			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr2:113513632G>A	ENST00000302450.6	-	4	1394	c.1316C>T	c.(1315-1317)aCt>aTt	p.T439I	CKAP2L_ENST00000481732.1_5'Flank|CKAP2L_ENST00000541405.1_Missense_Mutation_p.T274I	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	439						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						ATCAGCTTGAGTTTTGGGAGC	0.408																																						ENST00000541405.1																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						c.(820-822)aCt>aTt		cytoskeleton associated protein 2-like							218	221	220					2																	113513632		2203	4300	6503	SO:0001583	missense	150468					centrosome		g.chr2:113513632G>A	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.1316C>T	2.37:g.113513632G>A	ENSP00000305204:p.Thr439Ile					CKAP2L_ENST00000302450.6_Missense_Mutation_p.T439I	p.T274I			Q8IYA6	CKP2L_HUMAN			4	1344	-			439					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	ENST00000302450.6	37	c.821C>T	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.122489	0.37436	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.24151	1.87;1.87	4.99	4.11	0.48088	.	0.192733	0.32918	N	0.005491	T	0.27169	0.0666	M	0.63428	1.95	0.26813	N	0.968964	B;B	0.22683	0.006;0.073	B;B	0.25884	0.015;0.064	T	0.23368	-1.0190	10	0.62326	D	0.03	-7.2416	9.8323	0.40950	0.0941:0.0:0.9059:0.0	.	28;439	Q8IYA6-2;Q8IYA6	.;CKP2L_HUMAN	I	274;439	ENSP00000438763:T274I;ENSP00000305204:T439I	ENSP00000305204:T439I	T	-	2	0	CKAP2L	113230103	1.000000	0.71417	0.950000	0.38849	0.897000	0.52465	1.191000	0.32138	1.500000	0.48636	0.573000	0.79308	ACT		0.408	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		62	70	0	0	0	0.139131	0	62	70					A	113513632	G	A	113513632	3	1	466	1	0	0	0	0	1	0	0	0	3443	1029	36	2	945	2	CKAP2L	2	113513632	Missense_Mutation	SNP	G	TCGA-J8-A3O1-01A-11D-A21A-08		113513632	129685741	3	9550											
IGFBP5	3488	broad.mit.edu	37	chr2	217541606	217541606	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cggccacgggaaggtttgcaCtggggtgagtagagcaacag	17	8	0	2			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr2:217541606C>G	ENST00000233813.4	-	4	1437		c.e4-1			NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5						cellular protein metabolic process (GO:0044267)|cellular response to cAMP (GO:0071320)|cellular response to organic cyclic compound (GO:0071407)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hair follicle morphogenesis (GO:0031069)|intracellular signal transduction (GO:0035556)|mammary gland involution (GO:0060056)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|striated muscle cell differentiation (GO:0051146)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|insulin-like growth factor binding protein complex (GO:0016942)	insulin-like growth factor I binding (GO:0031994)			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGGTTTGCACTGGGGTGAGT	0.617																																						ENST00000233813.4																			0				endometrium(1)|large_intestine(3)|lung(1)	5						c.e4-1		insulin-like growth factor binding protein 5							143	128	133					2																	217541606		2203	4300	6503	SO:0001630	splice_region_variant	3488				negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding	g.chr2:217541606C>G		CCDS2405.1	2q35	2014-09-16			ENSG00000115461	ENSG00000115461			5474	protein-coding gene	gene with protein product		146734				7511611	Standard	NM_000599		Approved		uc002vgj.4	P24593	OTTHUMG00000133058	ENST00000233813.4:c.688-1G>C	2.37:g.217541606C>G								NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	1437	-		Renal(323;0.0822)						Q5U0A3	Splice_Site	SNP	ENST00000233813.4	37		CCDS2405.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.152138	0.78001	.	.	ENSG00000115461	ENST00000233813	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5399	0.84382	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IGFBP5	217249851	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.118000	0.77137	2.488000	0.83962	0.563000	0.77884	.		0.617	IGFBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256674.2	NM_000599	Intron	5	334	0	0	0	0.02938	0	5	334					G	217541606	C	G	217541606	5	3	466	1	0	0	0	0	0	0	1	0	7582	579	20	4	135	4	IGFBP5	2	217541606	Splice_Site	SNP	C	TCGA-J8-A3O1-01A-11D-A21A-08	104027974	217541606	25657767	4	9551											
CCDC108	255101	broad.mit.edu	37	chr2	219886587	219886587	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagttgccgtcattcaggagGacaaggaacctggactgctt	12	10	2	0			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr2:219886587G>A	ENST00000341552.5	-	18	3128	c.3045C>T	c.(3043-3045)gtC>gtT	p.V1015V	CCDC108_ENST00000453220.1_Silent_p.V1015V|CCDC108_ENST00000441968.1_Silent_p.V1015V	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1015						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)		CATTCAGGAGGACAAGGAACC	0.607																																						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.(3043-3045)gtC>gtT		coiled-coil domain containing 108							155	155	155					2																	219886587		2203	4300	6503	SO:0001819	synonymous_variant	255101					integral to membrane	structural molecule activity	g.chr2:219886587G>A	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.3045C>T	2.37:g.219886587G>A						CCDC108_ENST00000453220.1_Silent_p.V1015V|CCDC108_ENST00000441968.1_Silent_p.V1015V	p.V1015V	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)	18	3128	-		Renal(207;0.0915)	1015					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	ENST00000341552.5	37	c.3045C>T	CCDS2430.2																																																																																				0.607	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		66	137	0	0	0	0.139131	0	66	137					A	219886587	G	A	219886587	2	1	466	1	0	0	0	0	0	0	0	1	2743	1161	41	2		2	CCDC108	2	219886587	Silent	SNP	G	TCGA-J8-A3O1-01A-11D-A21A-08	2344981	219886587	23312786	5	9552											
LTF	4057	broad.mit.edu	37	chr3	46484938	46484938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcacagactcaccggaaaGccccagtgtagccgtagtat	10	12	2	1			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr3:46484938G>A	ENST00000231751.4	-	13	1944	c.1649C>T	c.(1648-1650)gCt>gTt	p.A550V	LTF_ENST00000417439.1_Missense_Mutation_p.A548V|LTF_ENST00000493056.1_5'Flank|LTF_ENST00000426532.2_Missense_Mutation_p.A506V	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	550	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		TCACCGGAAAGCCCCAGTGTA	0.532																																						ENST00000231751.4																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40						c.(1648-1650)gCt>gTt		lactotransferrin	Pefloxacin(DB00487)						215	202	207					3																	46484938		2203	4296	6499	SO:0001583	missense	4057				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	g.chr3:46484938G>A		CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.1649C>T	3.37:g.46484938G>A	ENSP00000231751:p.Ala550Val					LTF_ENST00000426532.2_Missense_Mutation_p.A506V|LTF_ENST00000417439.1_Missense_Mutation_p.A548V	p.A550V	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN		all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	13	1944	-			550			Transferrin-like 2.		A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Missense_Mutation	SNP	ENST00000231751.4	37	c.1649C>T	CCDS33747.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699022	0.88830	.	.	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.69575	0.3126	H	0.98883	4.36	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	0.82764	-0.0296	10	0.87932	D	0	-16.4083	16.8854	0.86074	0.0:0.0:1.0:0.0	.	548;537;550	E7ER44;E7EQB2;P02788	.;.;TRFL_HUMAN	V	550;506;548;537	ENSP00000231751:A550V;ENSP00000405719:A506V;ENSP00000405546:A548V;ENSP00000397427:A537V	ENSP00000231751:A550V	A	-	2	0	LTF	46459942	1.000000	0.71417	0.995000	0.50966	0.629000	0.37895	6.833000	0.75334	2.668000	0.90789	0.591000	0.81541	GCT		0.532	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343		80	108	0	0	0	0.139131	0	80	108					A	46484938	G	A	46484938	3	1	466	1	0	0	0	0	1	0	0	0	9079	971	34	2	503	2	LTF	3	46484938	Missense_Mutation	SNP	G	TCGA-J8-A3O1-01A-11D-A21A-08		46484938	151537492	6	9553											
ALCAM	214	broad.mit.edu	37	chr3	105252457	105252457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattttgcagttgggtgactGcatttcagaagacagttatc	10	6	1	3			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr3:105252457G>A	ENST00000306107.5	+	5	970	c.470G>A	c.(469-471)tGc>tAc	p.C157Y	ALCAM_ENST00000472644.2_Missense_Mutation_p.C157Y|ALCAM_ENST00000486979.2_Missense_Mutation_p.C106Y|ALCAM_ENST00000389927.4_5'UTR|ALCAM_ENST00000481337.1_3'UTR	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	157	Ig-like V-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TTGGGTGACTGCATTTCAGAA	0.443																																						ENST00000306107.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(469-471)tGc>tAc		activated leukocyte cell adhesion molecule							146	129	135					3																	105252457		2203	4300	6503	SO:0001583	missense	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105252457G>A	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	400	protein-coding gene	gene with protein product		601662	"activated leucocyte cell adhesion molecule"			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.470G>A	3.37:g.105252457G>A	ENSP00000305988:p.Cys157Tyr					ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000486979.2_Missense_Mutation_p.C106Y|ALCAM_ENST00000472644.2_Missense_Mutation_p.C157Y|ALCAM_ENST00000389927.4_5'UTR	p.C157Y	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN			5	970	+			157			Ig-like V-type 2.		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Missense_Mutation	SNP	ENST00000306107.5	37	c.470G>A	CCDS33810.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252359	0.80135	.	.	ENSG00000170017	ENST00000306107;ENST00000472644;ENST00000486979	D;D;D	0.99445	-5.91;-5.91;-5.91	5.84	5.84	0.93424	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.040151	0.85682	D	0.000000	D	0.99600	0.9855	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98459	1.0595	10	0.72032	D	0.01	-11.7467	20.1535	0.98095	0.0:0.0:1.0:0.0	.	157;157	B4DTU0;Q13740	.;CD166_HUMAN	Y	157;157;106	ENSP00000305988:C157Y;ENSP00000419236:C157Y;ENSP00000418213:C106Y	ENSP00000305988:C157Y	C	+	2	0	ALCAM	106735147	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.702000	0.74628	2.764000	0.94973	0.650000	0.86243	TGC		0.443	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		45	49	0	0	0	0.139131	0	45	49					A	105252457	G	A	105252457	3	1	466	1	0	0	0	0	1	0	0	0	487	1319	46	2	488	2	ALCAM	3	105252457	Missense_Mutation	SNP	G	TCGA-J8-A3O1-01A-11D-A21A-08	58767519	105252457	92769973	7	9554											
TRIO	7204	broad.mit.edu	37	chr5	14297305	14297305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggagtggaaggcgtttgCggcagccctggatgagcgga	19	8	0	1			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr5:14297305C>T	ENST00000344204.4	+	7	1325	c.1301C>T	c.(1300-1302)gCg>gTg	p.A434V	TRIO_ENST00000509967.2_Missense_Mutation_p.A385V|TRIO_ENST00000537187.1_Missense_Mutation_p.A434V	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	434					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AAGGCGTTTGCGGCAGCCCTG	0.602																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(1300-1302)gCg>gTg		trio Rho guanine nucleotide exchange factor							84	71	75					5																	14297305		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14297305C>T	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.1301C>T	5.37:g.14297305C>T	ENSP00000339299:p.Ala434Val					TRIO_ENST00000537187.1_Missense_Mutation_p.A434V|TRIO_ENST00000509967.2_Missense_Mutation_p.A385V	p.A434V	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			7	1325	+	Lung NSC(4;0.000742)		434					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.1301C>T	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347700	0.82022	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T;T	0.50813	0.73;0.73;0.73;0.96	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.66346	0.2780	L	0.58583	1.82	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.972;0.995	T	0.64643	-0.6359	10	0.40728	T	0.16	.	18.7327	0.91741	0.0:1.0:0.0:0.0	.	385;434;434	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	V	434;434;385;121	ENSP00000339299:A434V;ENSP00000446348:A434V;ENSP00000445592:A385V;ENSP00000426342:A121V	ENSP00000339299:A434V	A	+	2	0	TRIO	14350305	1.000000	0.71417	0.335000	0.25508	0.962000	0.63368	7.818000	0.86416	2.425000	0.82216	0.462000	0.41574	GCG		0.602	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		3	46	0	0	0	0.115264	0	3	46					T	14297305	C	T	14297305	3	4	466	1	0	0	0	0	1	0	0	0	16549	768	27	1	1327	1	TRIO	5	14297305	Missense_Mutation	SNP	C	TCGA-J8-A3O1-01A-11D-A21A-08		14297305	166617955	8	9555											
ZNF354A	6940	broad.mit.edu	37	chr5	178152399	178152399	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagaggagacgccagaaccGtctttctccacctcccaggg	11	14	2	3	rs142721313		TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr5:178152399G>A	ENST00000335815.2	-	4	431	c.234C>T	c.(232-234)gaC>gaT	p.D78D		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	78	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|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)	all cancers(165;0.185)		CGCCAGAACCGTCTTTCTCCA	0.527													G|||	1	0.000199681	0	0.0014	5008	,	,		18521	0		0	False		,,,				2504	0					ENST00000335815.2																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19						c.(232-234)gaC>gaT		zinc finger protein 354A		G		2,4404	4.2+/-10.8	0,2,2201	151	144	146		234	-4.2	0.0	5	dbSNP_134	146	15,8585	11.2+/-40.8	0,15,4285	yes	coding-synonymous	ZNF354A	NM_005649.2		0,17,6486	AA,AG,GG		0.1744,0.0454,0.1307		78/606	178152399	17,12989	2203	4300	6503	SO:0001819	synonymous_variant	6940				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178152399G>A	AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131		"Zinc fingers, C2H2-type", "-"	11628	protein-coding gene	gene with protein product		602444		TCF17		9465904	Standard	NM_005649		Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.234C>T	5.37:g.178152399G>A							p.D78D	NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)	4	431	-	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	78			KRAB.		Q9UNJ8	Silent	SNP	ENST00000335815.2	37	c.234C>T	CCDS4438.1																																																																																				0.527	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1	NM_005649		6	147	0	0	0	0.047766	0	6	147					A	178152399	G	A	178152399	2	1	466	1	0	0	0	0	0	0	0	1	17861	1136	40	1		1	ZNF354A	5	178152399	Silent	SNP	G	TCGA-J8-A3O1-01A-11D-A21A-08	163855094	178152399	2762861	9	9556											
GNL1	2794	broad.mit.edu	37	chr6	30513930	30513931	+	Frame_Shift_Del	DEL	AT	AT	-													gccgaggttggggtctcctcAtccccttctccctcctcatc							TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr6:30513930_30513931delAT	ENST00000376621.3	-	12	2712_2713	c.1742_1743delAT	c.(1741-1743)gatfs	p.D581fs		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	581	Asp/Glu-rich (highly acidic).				cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GGGTctcctcatccccttctcc	0.639																																						ENST00000376621.3																			0				cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1741-1743)gfs		guanine nucleotide binding protein-like 1																																				SO:0001589	frameshift_variant	2794				response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity	g.chr6:30513930_30513931delAT		CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.1742_1743delAT	6.37:g.30513930_30513931delAT	ENSP00000365806:p.Asp581fs						p.D581fs	NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN			12	2712_2713	-			581			Asp/Glu-rich (highly acidic).		B0S838|Q96CT5	Frame_Shift_Del	DEL	ENST00000376621.3	37	c.1742_1743delAT	CCDS4680.1																																																																																				0.639	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076241.2			2	4						2	4	---	---	---	---	-	30513931	AT	-	30513930	7	5	466	1	0	1	0	1	0	0	0	0	6535	214	8	0	84	0	GNL1	6	30513930	Frame_Shift_Del	DEL	AT	TCGA-J8-A3O1-01A-11D-A21A-08		30513930	140601137	10	9557											
ZNF713	349075	broad.mit.edu	37	chr7	56006963	56006963	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctcaaaccttatgcagcagaGaattccttccattaaaatac	4	11	1	1			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr7:56006963G>A	ENST00000429591.2	+	4	595	c.557G>A	c.(556-558)aGa>aAa	p.R186K	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	186					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(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ATGCAGCAGAGAATTCCTTCC	0.368																																						ENST00000429591.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(556-558)aGa>aAa		zinc finger protein 713							51	53	52					7																	56006963		2203	4300	6503	SO:0001583	missense	349075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:56006963G>A	AK097282	CCDS34639.1	7p11.2	2013-01-08			ENSG00000178665	ENSG00000178665		"Zinc fingers, C2H2-type", "-"	22043	protein-coding gene	gene with protein product							Standard	NM_182633		Approved	FLJ39963	uc003trc.1	Q8N859	OTTHUMG00000156175	ENST00000429591.2:c.557G>A	7.37:g.56006963G>A	ENSP00000416662:p.Arg186Lys					MRPS17_ENST00000426595.1_Intron	p.R186K	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		4	595	+	Breast(14;0.214)		186						Missense_Mutation	SNP	ENST00000429591.2	37	c.557G>A	CCDS34639.1	.	.	.	.	.	.	.	.	.	.	G	1.158	-0.644724	0.03531	.	.	ENSG00000178665	ENST00000429591	T	0.06142	3.34	3.78	0.963	0.19649	.	0.413435	0.18199	N	0.148580	T	0.05960	0.0155	L	0.56769	1.78	0.21933	N	0.999462	B	0.32071	0.355	B	0.29267	0.1	T	0.36286	-0.9754	10	0.22109	T	0.4	.	5.9854	0.19432	0.4596:0.0:0.5404:0.0	.	186	Q8N859	ZN713_HUMAN	K	186	ENSP00000416662:R186K	ENSP00000416662:R186K	R	+	2	0	ZNF713	55974457	0.993000	0.37304	0.177000	0.23020	0.034000	0.12701	2.044000	0.41241	0.195000	0.20347	0.591000	0.81541	AGA		0.368	ZNF713-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343297.1	NM_182633		13	28	0	0	0	0.132662	0	13	28					A	56006963	G	A	56006963	3	1	466	1	0	0	0	0	1	0	0	0	18114	942	33	2	571	2	ZNF713	7	56006963	Missense_Mutation	SNP	G	TCGA-J8-A3O1-01A-11D-A21A-08		56006963	103131700	11	9558											
THAP5	168451	broad.mit.edu	37	chr7	108204990	108204990	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagggtttagaattttcaGcaggtacaaaaatggcaata	10	5	1	2			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr7:108204990G>A	ENST00000415914.3	-	3	986	c.833C>T	c.(832-834)gCt>gTt	p.A278V	THAP5_ENST00000493722.1_5'UTR|THAP5_ENST00000313516.5_Missense_Mutation_p.A236V	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	278					cell cycle (GO:0007049)|negative regulation of cell cycle (GO:0045786)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protease binding (GO:0002020)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						AGAATTTTCAGCAGGTACAAA	0.328																																						ENST00000415914.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(832-834)gCt>gTt		THAP domain containing 5							79	84	83					7																	108204990		2203	4300	6503	SO:0001583	missense	168451				cell cycle|negative regulation of cell cycle	nucleus	DNA binding|metal ion binding|protease binding	g.chr7:108204990G>A	AL833137	CCDS34734.2, CCDS47687.1	7q22.3	2013-01-25			ENSG00000177683	ENSG00000177683		"THAP (C2CH-type zinc finger) domain containing"	23188	protein-coding gene	gene with protein product		612534				12575992	Standard	NM_001287598		Approved	DKFZp313O1132	uc003vfm.3	Q7Z6K1	OTTHUMG00000154951	ENST00000415914.3:c.833C>T	7.37:g.108204990G>A	ENSP00000400500:p.Ala278Val					THAP5_ENST00000313516.5_Missense_Mutation_p.A236V|THAP5_ENST00000493722.1_5'UTR	p.A278V	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN			3	986	-			278						Missense_Mutation	SNP	ENST00000415914.3	37	c.833C>T	CCDS47687.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047326	0.36085	.	.	ENSG00000177683	ENST00000415914;ENST00000313516	D;D	0.97209	-4.29;-2.81	4.6	2.78	0.32641	.	.	.	.	.	D	0.91640	0.7358	L	0.27053	0.805	0.58432	D	0.999999	B	0.06786	0.001	B	0.04013	0.001	D	0.83753	0.0210	8	.	.	.	.	5.9769	0.19385	0.1714:0.1558:0.6728:0.0	.	278	Q7Z6K1	THAP5_HUMAN	V	278;236	ENSP00000400500:A278V;ENSP00000322440:A236V	.	A	-	2	0	THAP5	107992226	0.998000	0.40836	0.688000	0.30117	0.958000	0.62258	2.165000	0.42396	0.489000	0.27749	-0.145000	0.13849	GCT		0.328	THAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337777.2	NM_182529		3	33	0	0	0	0.115264	0	3	33					A	108204990	G	A	108204990	3	1	466	1	0	0	0	0	1	0	0	0	15844	971	34	2	358	2	THAP5	7	108204990	Missense_Mutation	SNP	G	TCGA-J8-A3O1-01A-11D-A21A-08	52198027	108204990	50933673	12	9559											
LDHA	3939	broad.mit.edu	37	chr11	18427040	18427040	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggctacacatcctgggctaTtggactctctgtagcagatt	10	10	1	1			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr11:18427040T>C	ENST00000422447.3	+	7	1028	c.755T>C	c.(754-756)aTt>aCt	p.I252T	LDHA_ENST00000379412.5_Missense_Mutation_p.I252T|LDHA_ENST00000540430.1_Missense_Mutation_p.I281T|LDHA_ENST00000542179.1_Missense_Mutation_p.I252T|LDHA_ENST00000430553.2_Missense_Mutation_p.I194T|LDHA_ENST00000396222.2_Intron|AC084117.3_ENST00000496975.2_RNA|LDHA_ENST00000227157.4_Intron	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	252					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|cellular response to extracellular stimulus (GO:0031668)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	L-lactate dehydrogenase activity (GO:0004459)			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12						TCCTGGGCTATTGGACTCTCT	0.443																																						ENST00000422447.3																			0				central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12						c.(754-756)aTt>aCt		lactate dehydrogenase A	NADH(DB00157)						117	117	117					11																	18427040		2199	4293	6492	SO:0001583	missense	3939				glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding	g.chr11:18427040T>C	X02152	CCDS7839.1, CCDS44549.1, CCDS53609.1, CCDS53610.1, CCDS53611.1	11p15.1	2012-10-02			ENSG00000134333	ENSG00000134333	1.1.1.27		6535	protein-coding gene	gene with protein product		150000				3000353	Standard	NM_005566		Approved		uc010rdd.2	P00338	OTTHUMG00000167721	ENST00000422447.3:c.755T>C	11.37:g.18427040T>C	ENSP00000395337:p.Ile252Thr					LDHA_ENST00000542179.1_Missense_Mutation_p.I252T|LDHA_ENST00000540430.1_Missense_Mutation_p.I281T|LDHA_ENST00000430553.2_Missense_Mutation_p.I194T|LDHA_ENST00000396222.2_Intron|LDHA_ENST00000379412.5_Missense_Mutation_p.I252T|LDHA_ENST00000227157.4_Intron	p.I252T	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN			7	1028	+			252					B4DKQ2|B7Z5E3|D3DQY3|F8W819|Q53G53|Q6IBM7|Q6ZNV1|Q9UDE8|Q9UDE9	Missense_Mutation	SNP	ENST00000422447.3	37	c.755T>C	CCDS7839.1	.	.	.	.	.	.	.	.	.	.	T	19.02	3.745808	0.69418	.	.	ENSG00000134333	ENST00000422447;ENST00000430553;ENST00000541620;ENST00000445376;ENST00000540430;ENST00000379412;ENST00000542179	T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38	5.12	5.12	0.69794	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.84737	0.5538	M	0.93898	3.47	0.80722	D	1	P;B;B;B	0.45428	0.858;0.07;0.02;0.352	P;B;B;P	0.59171	0.853;0.317;0.069;0.548	D	0.88705	0.3218	10	0.87932	D	0	-3.4515	15.205	0.73173	0.0:0.0:0.0:1.0	.	281;194;225;252	B7Z5E3;B4DKQ2;B4DJI1;P00338	.;.;.;LDHA_HUMAN	T	252;194;224;225;281;252;252	ENSP00000395337:I252T;ENSP00000406172:I194T;ENSP00000445175:I281T;ENSP00000368722:I252T;ENSP00000445331:I252T	ENSP00000368722:I252T	I	+	2	0	LDHA	18383616	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	7.810000	0.86072	2.056000	0.61249	0.374000	0.22700	ATT		0.443	LDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258172.2	NM_005566		4	72	0	0	0	0.014758	0	4	72					C	18427040	T	C	18427040	3	2	466	1	0	0	0	0	1	0	0	0	8698	1493	52	3	868	3	LDHA	11	18427040	Missense_Mutation	SNP	T	TCGA-J8-A3O1-01A-11D-A21A-08		18427040	116579476	13	9560											
TSFM	25895	broad.mit.edu	37	chr12	58176601	58176601	+	IGR	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agagatgtcgctgctgcggtCgctgcgcgtgtttctggtcg	16	10	1	1	rs372337739		TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr12:58176601C>T	ENST00000300209.8	+	0	2563				RP11-571M6.15_ENST00000553083.1_Intron|RP11-571M6.15_ENST00000471530.1_Intron|TSFM_ENST00000548851.1_Missense_Mutation_p.S6L|TSFM_ENST00000323833.8_Missense_Mutation_p.S6L|TSFM_ENST00000543727.1_Missense_Mutation_p.S6L|TSFM_ENST00000540550.1_Missense_Mutation_p.S6L|TSFM_ENST00000454289.3_Missense_Mutation_p.S6L|TSFM_ENST00000550559.1_Missense_Mutation_p.S6L|TSFM_ENST00000350762.5_5'UTR	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B							cytoplasm (GO:0005737)|intracellular (GO:0005622)	methyltransferase activity (GO:0008168)			endometrium(1)|lung(1)	2						CTGCTGCGGTCGCTGCGCGTG	0.652											OREG0021954	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000454289.3																			0				endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)	8						c.(16-18)tCg>tTg		Ts translation elongation factor, mitochondrial		C	LEU/SER,LEU/SER,LEU/SER,LEU/SER	0,4404		0,0,2202	35	32	33		17,17,17,17	5.0	0.1	12		33	1,8575		0,1,4287	no	missense,missense,missense,missense	TSFM	NM_001172695.1,NM_001172696.1,NM_001172697.1,NM_005726.5	145,145,145,145	0,1,6489	TT,TC,CC		0.0117,0.0,0.0077	benign,benign,benign,benign	6/168,6/347,6/216,6/326	58176601	1,12979	2202	4288	6490	SO:0001628	intergenic_variant	10102				regulation of transcription elongation, DNA-dependent	mitochondrion|nucleus	translation elongation factor activity	g.chr12:58176601C>T	AL050100, AF455816	CCDS8957.1, CCDS31848.1	12q14.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000123427	ENSG00000123427			24936	protein-coding gene	gene with protein product		615258	"family with sequence similarity 119, member B"	FAM119B		12477932	Standard	NM_015433		Approved	DKFZP586D0919	uc001sqg.3	Q96AZ1	OTTHUMG00000170459		12.37:g.58176601C>T			OREG0021954	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1028	TSFM_ENST00000323833.8_Missense_Mutation_p.S6L|TSFM_ENST00000550559.1_Missense_Mutation_p.S6L|TSFM_ENST00000548851.1_Missense_Mutation_p.S6L|TSFM_ENST00000350762.5_5'UTR|TSFM_ENST00000543727.1_Missense_Mutation_p.S6L|RP11-571M6.15_ENST00000471530.1_Intron|TSFM_ENST00000540550.1_Missense_Mutation_p.S6L|RP11-571M6.15_ENST00000553083.1_Intron	p.S6L	NM_005726.5	NP_005717.3	P43897	EFTS_HUMAN			1	230	+	all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		6					Q9H749|Q9Y3W2	Missense_Mutation	SNP	ENST00000300209.8	37	c.17C>T	CCDS8957.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.166078	0.38217	0.0	1.17E-4	ENSG00000123297	ENST00000454289;ENST00000543727;ENST00000540550;ENST00000323833;ENST00000550559;ENST00000548851	.	.	.	4.99	4.99	0.66335	.	0.803958	0.11438	N	0.564111	T	0.40094	0.1103	L	0.29908	0.895	0.80722	D	1	P;B;P	0.40083	0.702;0.382;0.593	B;B;B	0.32149	0.141;0.037;0.063	T	0.39781	-0.9597	9	0.52906	T	0.07	.	13.6139	0.62097	0.0:1.0:0.0:0.0	.	6;6;6	B4E391;P43897;P43897-2	.;EFTS_HUMAN;.	L	6	.	ENSP00000313877:S6L	S	+	2	0	TSFM	56462868	0.043000	0.20138	0.073000	0.20177	0.014000	0.08584	1.897000	0.39799	2.589000	0.87451	0.462000	0.41574	TCG		0.652	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409268.1	NM_015433		4	9	0	0	0	0.021553	0	4	9					T	58176601	C	T	58176601	1	4	466	0	1	0	0	0	0	0	0	0	16612	893	31	1		1	TSFM	12	58176601	IGR	SNP	C	TCGA-J8-A3O1-01A-11D-A21A-08		58176601	75675294	14	9561											
PRKD1	5587	broad.mit.edu	37	chr14	30105538	30105538	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtggtctgggtctggatctTgcatctcgccactgtcgttc	12	12	4	0			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr14:30105538T>C	ENST00000331968.5	-	7	1377	c.1148A>G	c.(1147-1149)cAa>cGa	p.Q383R	PRKD1_ENST00000415220.2_Missense_Mutation_p.Q391R|PRKD1_ENST00000551644.1_5'Flank	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	383					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GTCTGGATCTTGCATCTCGCC	0.537																																						ENST00000331968.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78						c.(1147-1149)cAa>cGa		protein kinase D1							354	271	299					14																	30105538		2203	4300	6503	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30105538T>C		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"Pleckstrin homology (PH) domain containing"	9407	protein-coding gene	gene with protein product		605435	"protein kinase C, mu"	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.1148A>G	14.37:g.30105538T>C	ENSP00000333568:p.Gln383Arg					PRKD1_ENST00000415220.2_Missense_Mutation_p.Q391R	p.Q383R	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	7	1377	-	Hepatocellular(127;0.0604)		383					A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.1148A>G	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	T	10.56	1.383993	0.25031	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	T;T	0.65549	-0.16;-0.16	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	T	0.48995	0.1531	N	0.24115	0.695	0.49483	D	0.999797	B	0.06786	0.001	B	0.06405	0.002	T	0.42716	-0.9435	10	0.16896	T	0.51	-19.3577	16.8222	0.85835	0.0:0.0:0.0:1.0	.	383	Q15139	KPCD1_HUMAN	R	383;391	ENSP00000333568:Q383R;ENSP00000390535:Q391R	ENSP00000333568:Q383R	Q	-	2	0	PRKD1	29175289	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	5.474000	0.66781	2.371000	0.80710	0.533000	0.62120	CAA		0.537	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		102	120	0	0	0	0.139131	0	102	120					C	30105538	T	C	30105538	3	2	466	1	0	0	0	0	1	0	0	0	12518	1812	63	3	1638	3	PRKD1	14	30105538	Missense_Mutation	SNP	T	TCGA-J8-A3O1-01A-11D-A21A-08		30105538	77244002	15	9562											
SFRS5	6430	broad.mit.edu	37	chr14	70237718	70237718	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttttccattttagggtggtTgagtttgcctcttatggtga	12	5	1	2			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr14:70237718T>G	ENST00000553521.1	+	8	1900	c.447T>G	c.(445-447)gtT>gtG	p.V149V	SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000557154.1_Silent_p.V149V|SRSF5_ENST00000394366.2_Silent_p.V149V|SRSF5_ENST00000553635.1_Silent_p.V146V			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5	149	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of cell cycle (GO:0051726)|response to wounding (GO:0009611)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(1)|liver(1)	2						TTAGGGTGGTTGAGTTTGCCT	0.358																																						ENST00000553521.1																			0				large_intestine(1)|liver(1)	2						c.(445-447)gtT>gtG		serine/arginine-rich splicing factor 5							127	123	124					14																	70237718		2203	4300	6503	SO:0001819	synonymous_variant	6430				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr14:70237718T>G	AF020307	CCDS32109.1	14q24	2013-02-12	2010-06-22	2010-06-22	ENSG00000100650	ENSG00000100650		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10787	protein-coding gene	gene with protein product	"SR splicing factor 5"	600914	"splicing factor, arginine/serine-rich 5"	SFRS5		7686911, 20516191	Standard	XM_005267998		Approved	SRP40, HRS	uc001xlp.3	Q13243		ENST00000553521.1:c.447T>G	14.37:g.70237718T>G						SRSF5_ENST00000557154.1_Silent_p.V149V|SRSF5_ENST00000553635.1_Silent_p.V146V|SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000394366.2_Silent_p.V149V	p.V149V			Q13243	SRSF5_HUMAN			8	1900	+			149			RRM 2.		O14797|Q16662|Q49AD6|Q6FGE0	Silent	SNP	ENST00000553521.1	37	c.447T>G	CCDS32109.1																																																																																				0.358	SRSF5-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412456.1	NM_001039465		6	24	0	0	0	0.058154	0	6	24					G	70237718	T	G	70237718	2	3	466	1	0	0	0	0	0	0	0	1	14180	1799	63	5		5	SFRS5	14	70237718	Silent	SNP	T	TCGA-J8-A3O1-01A-11D-A21A-08	40132180	70237718	37111822	16	9563											
CATSPERB	79820	broad.mit.edu	37	chr14	92088170	92088170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcactttcaggcatggtaGcaatggctaatgcattctta	10	8	2	0			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr14:92088170G>A	ENST00000256343.3	-	19	2198	c.2042C>T	c.(2041-2043)gCt>gTt	p.A681V		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	681					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AGGCATGGTAGCAATGGCTAA	0.393																																						ENST00000256343.3																			0				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54						c.(2041-2043)gCt>gTt		catsper channel auxiliary subunit beta							118	104	109					14																	92088170		2203	4300	6503	SO:0001583	missense	79820				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr14:92088170G>A	AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"chromosome 14 open reading frame 161", "cation channel, sperm-associated, beta"	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.2042C>T	14.37:g.92088170G>A	ENSP00000256343:p.Ala681Val						p.A681V	NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN			19	2198	-		all_cancers(154;0.0663)|all_epithelial(191;0.236)	681					A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	c.2042C>T	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041442	0.75732	.	.	ENSG00000133962	ENST00000256343	T	0.57595	0.39	5.43	5.43	0.79202	.	0.257129	0.27280	N	0.020099	T	0.69593	0.3128	M	0.62723	1.935	0.24123	N	0.995793	D	0.76494	0.999	D	0.71656	0.974	T	0.64063	-0.6495	10	0.72032	D	0.01	-17.8103	16.1571	0.81675	0.0:0.0:1.0:0.0	.	681	Q9H7T0	CTSRB_HUMAN	V	681	ENSP00000256343:A681V	ENSP00000256343:A681V	A	-	2	0	CATSPERB	91157923	0.969000	0.33509	0.088000	0.20740	0.059000	0.15707	5.403000	0.66338	2.541000	0.85698	0.591000	0.81541	GCT		0.393	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764		3	47	0	0	0	0.115264	0	3	47					A	92088170	G	A	92088170	3	1	466	1	0	0	0	0	1	0	0	0	2691	971	34	2	1344	2	CATSPERB	14	92088170	Missense_Mutation	SNP	G	TCGA-J8-A3O1-01A-11D-A21A-08	21850452	92088170	15261370	17	9564											
AHNAK2	113146	broad.mit.edu	37	chr14	105418145	105418145	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaggtcagcggaaggggGctgaatgctgaggtcagtgg	18	8	2	2	rs375277628	byFrequency	TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr14:105418145G>A	ENST00000333244.5	-	7	3762	c.3643C>T	c.(3643-3645)Ccc>Tcc	p.P1215S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1215						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)			GCGGAAGGGGGCTGAATGCTG	0.647													.|||	6	0.00119808	0	0	5008	,	,		15037	0		0.001	False		,,,				2504	0.0051					ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(3643-3645)Ccc>Tcc		AHNAK nucleoprotein 2		G	SER/PRO	2,3852		0,2,1925	96	70	79		3643	1.6	0.0	14		79	3,7607		0,3,3802	no	missense	AHNAK2	NM_138420.2	74	0,5,5727	AA,AG,GG		0.0394,0.0519,0.0436	benign	1215/5796	105418145	5,11459	1927	3805	5732	SO:0001583	missense	113146					nucleus		g.chr14:105418145G>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.3643C>T	14.37:g.105418145G>A	ENSP00000353114:p.Pro1215Ser					AHNAK2_ENST00000557457.1_Intron	p.P1215S	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	3762	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1215					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.3643C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	9.389	1.074896	0.20227	5.19E-4	3.94E-4	ENSG00000185567	ENST00000333244	T	0.00840	5.63	4.55	1.58	0.23477	.	.	.	.	.	T	0.00695	0.0023	N	0.25201	0.72	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46512	-0.9186	9	0.08837	T	0.75	.	5.6981	0.17867	0.0766:0.3467:0.4538:0.1229	.	1215	Q8IVF2	AHNK2_HUMAN	S	1215	ENSP00000353114:P1215S	ENSP00000353114:P1215S	P	-	1	0	AHNAK2	104489190	.	.	0.009000	0.14445	0.004000	0.04260	.	.	0.383000	0.24910	-1.447000	0.01057	CCC		0.647	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		2	0	0	0	0	0.021553	0	2	0					A	105418145	G	A	105418145	3	1	466	1	0	0	0	0	1	0	0	0	415	1203	42	2	13748	2	AHNAK2	14	105418145	Missense_Mutation	SNP	G	TCGA-J8-A3O1-01A-11D-A21A-08	13329975	105418145	1931395	18	9565											
ARIH1	25820	broad.mit.edu	37	chr15	72767235	72767235	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggcggcggcggcggcggCggtggtggtggcgggccggg	28	10	0	0			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr15:72767235C>T	ENST00000379887.4	+	1	569	c.255C>T	c.(253-255)ggC>ggT	p.G85G	RP11-1007O24.3_ENST00000565181.1_lincRNA	NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	85	Gly-rich.				cytokine-mediated signaling pathway (GO:0019221)|protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ubiquitin ligase complex (GO:0000151)	small conjugating protein ligase activity (GO:0019787)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						gcggcggcggcggtggtggtg	0.736																																						ENST00000379887.4																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						c.(253-255)ggC>ggT		ariadne RBR E3 ubiquitin protein ligase 1							4	3	3					15																	72767235		1491	2998	4489	SO:0001819	synonymous_variant	25820				ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:72767235C>T	AF072832	CCDS10244.1	15q24	2013-10-03	2013-10-03		ENSG00000166233	ENSG00000166233			689	protein-coding gene	gene with protein product	"ariadne, Drosophila, homolog of"	605624	"ariadne (Drosophila) homolog, ubiquitin-conjugating enzyme E2-binding protein, 1", "ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila)"			10521492, 24058416	Standard	NM_005744		Approved	HARI, HHARI, UBCH7BP, ARI	uc002aut.4	Q9Y4X5	OTTHUMG00000133474	ENST00000379887.4:c.255C>T	15.37:g.72767235C>T						RP11-1007O24.3_ENST00000565181.1_lincRNA	p.G85G	NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN			1	569	+			85			Gly-rich.		B2R6U3|O76026|Q9H3T6|Q9UEN0|Q9UP39	Silent	SNP	ENST00000379887.4	37	c.255C>T	CCDS10244.1																																																																																				0.736	ARIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257350.1	NM_005744		3	18	0	0	0	0.009096	0	3	18					T	72767235	C	T	72767235	2	4	466	1	0	0	0	0	0	0	0	1	923	755	27	1		1	ARIH1	15	72767235	Silent	SNP	C	TCGA-J8-A3O1-01A-11D-A21A-08		72767235	29764157	19	9566											
MYH2	4620	broad.mit.edu	37	chr17	10432293	10432293	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggcttcttccagcctctcgCtgatctcctccagctcccgg	8	19	3	1			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr17:10432293C>A	ENST00000245503.5	-	27	3842	c.3458G>T	c.(3457-3459)aGc>aTc	p.S1153I	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.S1153I	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1153					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAGCCTCTCGCTGATCTCCTC	0.617																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(3457-3459)aGc>aTc		myosin, heavy chain 2, skeletal muscle, adult							70	81	78					17																	10432293		2202	4298	6500	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10432293C>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3458G>T	17.37:g.10432293C>A	ENSP00000245503:p.Ser1153Ile					MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.S1153I|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.S1153I	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			27	3842	-			1153					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.3458G>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442800	0.83993	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.83163	-1.69;-1.69	5.09	5.09	0.68999	Myosin tail (1);	0.000000	0.46442	U	0.000283	D	0.94345	0.8182	H	0.96777	3.88	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.95990	0.8985	10	0.87932	D	0	.	18.6832	0.91554	0.0:1.0:0.0:0.0	.	1153	Q9UKX2	MYH2_HUMAN	I	1153	ENSP00000245503:S1153I;ENSP00000380367:S1153I	ENSP00000245503:S1153I	S	-	2	0	MYH2	10373018	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.350000	0.79385	2.660000	0.90430	0.591000	0.81541	AGC		0.617	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		90	96	1	0	1.33835e-49	0.139131	1.71476e-49	90	96					A	10432293	C	A	10432293	3	1	466	1	0	0	0	0	1	0	0	0	10035	797	28	4	2423	4	MYH2	17	10432293	Missense_Mutation	SNP	C	TCGA-J8-A3O1-01A-11D-A21A-08		10432293	70762917	20	9567											
PTPRS	5802	broad.mit.edu	37	chr19	5206842	5206842	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agtgccgcctggtaacagaaCtggtactcatcctgggggag	14	10	1	1	rs199713079		TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr19:5206842C>G	ENST00000587303.1	-	37	5889	c.5790G>C	c.(5788-5790)caG>caC	p.Q1930H	PTPRS_ENST00000262963.6_Missense_Mutation_p.Q1910H|PTPRS_ENST00000372412.4_Missense_Mutation_p.Q1931H|PTPRS_ENST00000588012.1_Missense_Mutation_p.Q1892H|PTPRS_ENST00000592099.1_Missense_Mutation_p.Q1483H|PTPRS_ENST00000348075.2_Missense_Mutation_p.Q1892H|PTPRS_ENST00000353284.2_Missense_Mutation_p.Q1483H|PTPRS_ENST00000357368.4_Missense_Mutation_p.Q1930H|PTPRS_ENST00000588552.1_Intron			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1930	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GGTAACAGAACTGGTACTCAT	0.612																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(5791-5793)caG>caC		protein tyrosine phosphatase, receptor type, S							144	122	129					19																	5206842		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5206842C>G	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.5790G>C	19.37:g.5206842C>G	ENSP00000467537:p.Gln1930His					PTPRS_ENST00000587303.1_Missense_Mutation_p.Q1930H|PTPRS_ENST00000357368.4_Missense_Mutation_p.Q1930H|PTPRS_ENST00000353284.2_Missense_Mutation_p.Q1483H|PTPRS_ENST00000348075.2_Missense_Mutation_p.Q1892H|PTPRS_ENST00000592099.1_Missense_Mutation_p.Q1483H|PTPRS_ENST00000262963.6_Missense_Mutation_p.Q1910H|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000588012.1_Missense_Mutation_p.Q1892H	p.Q1931H			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	38	6026	-			1930			Tyrosine-protein phosphatase 2.		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.5793G>C	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.760373	0.31137	.	.	ENSG00000105426	ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77	2.91	2.91	0.33838	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.64402	U	0.000007	D	0.84051	0.5387	N	0.21448	0.665	0.58432	D	0.999997	D;B;D;B;D	0.89917	1.0;0.302;0.999;0.417;0.999	D;B;D;B;D	0.91635	0.999;0.116;0.998;0.379;0.999	D	0.85336	0.1093	10	0.52906	T	0.07	.	13.9299	0.63989	0.0:1.0:0.0:0.0	.	1512;1483;1487;1892;1930	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332	.;.;.;.;PTPRS_HUMAN	H	1931;1930;1930;1921;1910;1892;1512;1487;1483	ENSP00000361489:Q1931H;ENSP00000349932:Q1930H;ENSP00000262963:Q1910H;ENSP00000269907:Q1892H;ENSP00000327313:Q1483H	ENSP00000262963:Q1910H	Q	-	3	2	PTPRS	5157842	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.105000	0.57797	1.482000	0.48325	0.471000	0.43371	CAG		0.612	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			7	99	0	0	0	0.058154	0	7	99					G	5206842	C	G	5206842	3	3	466	1	0	0	0	0	1	0	0	0	12811	564	20	4	60	4	PTPRS	19	5206842	Missense_Mutation	SNP	C	TCGA-J8-A3O1-01A-11D-A21A-08		5206842	53922141	21	9568											
ANGPTL6	83854	broad.mit.edu	37	chr19	10204121	10204121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatggtactggccaagccGcaggcggtagtggtcgctct	14	12	1	0			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr19:10204121G>A	ENST00000253109.4	-	5	1364	c.1126C>T	c.(1126-1128)Cgg>Tgg	p.R376W	ANGPTL6_ENST00000592641.1_Missense_Mutation_p.R376W|ANGPTL6_ENST00000589181.1_Missense_Mutation_p.R336W	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	376	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			TGGCCAAGCCGCAGGCGGTAG	0.597																																						ENST00000253109.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12						c.(1126-1128)Cgg>Tgg		angiopoietin-like 6							66	59	61					19																	10204121		2203	4300	6503	SO:0001583	missense	83854				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding	g.chr19:10204121G>A	AB054064	CCDS12224.1	19p13.2	2013-02-06				ENSG00000130812		"Fibrinogen C domain containing"	23140	protein-coding gene	gene with protein product	"angiopoietin-related protein 5"	609336				12871997	Standard	NM_031917		Approved	ARP5, AGF	uc002mmy.1	Q8NI99		ENST00000253109.4:c.1126C>T	19.37:g.10204121G>A	ENSP00000253109:p.Arg376Trp					ANGPTL6_ENST00000592641.1_Missense_Mutation_p.R376W|ANGPTL6_ENST00000589181.1_Missense_Mutation_p.R336W	p.R376W	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)		5	1364	-			376			Fibrinogen C-terminal.		A5PKV7|Q9BZZ0	Missense_Mutation	SNP	ENST00000253109.4	37	c.1126C>T	CCDS12224.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331110	0.60853	.	.	ENSG00000130812	ENST00000253109	T	0.77750	-1.12	4.47	2.15	0.27550	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.64402	D	0.000002	D	0.86748	0.6007	M	0.81179	2.53	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.87522	0.2447	10	0.52906	T	0.07	.	12.9306	0.58284	0.0:0.0:0.6971:0.3029	.	376	Q8NI99	ANGL6_HUMAN	W	376	ENSP00000253109:R376W	ENSP00000253109:R376W	R	-	1	2	ANGPTL6	10065121	0.998000	0.40836	1.000000	0.80357	0.950000	0.60333	1.322000	0.33689	1.106000	0.41623	-0.515000	0.04445	CGG		0.597	ANGPTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451142.1	NM_031917		3	44	0	0	0	0.009096	0	3	44					A	10204121	G	A	10204121	3	1	466	1	0	0	0	0	1	0	0	0	618	1086	38	1	294	1	ANGPTL6	19	10204121	Missense_Mutation	SNP	G	TCGA-J8-A3O1-01A-11D-A21A-08	4997279	10204121	48924862	22	9569											
PLP1	5354	broad.mit.edu	37	chrX	103041545	103041545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcggcaagggcctgagcGcaacggtaacagggggccag	17	11	1	1			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chrX:103041545G>A	ENST00000303958.2	+	3	489	c.343G>A	c.(343-345)Gca>Aca	p.A115T	PLP1_ENST00000361621.2_Missense_Mutation_p.A115T|PLP1_ENST00000418604.1_Missense_Mutation_p.A115T	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1	115					astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						GGGCCTGAGCGCAACGGTAAC	0.582																																						ENST00000418604.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						c.(343-345)Gca>Aca		proteolipid protein 1							118	104	109					X																	103041545		2203	4300	6503	SO:0001583	missense	5354				cell death|synaptic transmission	integral to membrane		g.chrX:103041545G>A	M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"Pelizaeus-Merzbacher disease"	300401	"spastic paraplegia 2, uncomplicated"	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.343G>A	X.37:g.103041545G>A	ENSP00000305152:p.Ala115Thr					PLP1_ENST00000361621.2_Missense_Mutation_p.A115T|PLP1_ENST00000303958.2_Missense_Mutation_p.A115T	p.A115T	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN			4	623	+			115					P04400|P06905|Q502Y1|Q6FHZ6	Missense_Mutation	SNP	ENST00000303958.2	37	c.343G>A	CCDS14513.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478890	0.63849	.	.	ENSG00000123560	ENST00000434483;ENST00000429977;ENST00000455268;ENST00000422393;ENST00000418604;ENST00000303958;ENST00000361621	D;D;D;D;D;D;D	0.99445	-5.56;-5.56;-5.56;-5.56;-5.91;-5.91;-5.56	5.78	5.78	0.91487	.	0.390705	0.30869	N	0.008707	D	0.98614	0.9536	L	0.39397	1.21	0.33890	D	0.637175	D;P;P;P;B	0.63046	0.992;0.944;0.94;0.944;0.006	P;B;P;B;B	0.52856	0.711;0.403;0.525;0.403;0.009	D	0.99961	1.1724	10	0.56958	D	0.05	-18.7842	11.2825	0.49203	0.0:0.0:0.8182:0.1818	.	60;115;115;115;115	B4DI30;A8K9L3;B1B1G6;P60201;P60201-2	.;.;.;MYPR_HUMAN;.	T	115	ENSP00000403335:A115T;ENSP00000399913:A115T;ENSP00000409802:A115T;ENSP00000413931:A115T;ENSP00000405750:A115T;ENSP00000305152:A115T;ENSP00000354860:A115T	ENSP00000305152:A115T	A	+	1	0	PLP1	102928201	1.000000	0.71417	0.993000	0.49108	0.999000	0.98932	4.285000	0.58989	2.417000	0.82017	0.600000	0.82982	GCA		0.582	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057743.2			4	171	0	0	0	0.009096	0	4	171					A	103041545	G	A	103041545	3	1	466	1	0	0	0	0	1	0	0	0	12104	1087	38	1	353	1	PLP1	23	103041545	Missense_Mutation	SNP	G	TCGA-J8-A3O1-01A-11D-A21A-08		103041545	52229015	23	9570											
S100PBP	64766	broad.mit.edu	37	chr1	33292091	33292091	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtcatggaccagctcatactAaaccattaaacagacgctct	6	12	3	1	rs370904573		TCGA-J8-A3O2-01A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ade6333-73db-4993-83a1-00da914ab0c5	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr1:33292091A>T	ENST00000373475.5	+	3	645	c.391A>T	c.(391-393)Aaa>Taa	p.K131*	S100PBP_ENST00000398243.3_Nonsense_Mutation_p.K131*|S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000373476.1_Nonsense_Mutation_p.K131*	NM_022753.3	NP_073590.2			S100P binding protein											endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				AGCTCATACTAAACCATTAAA	0.413																																						ENST00000373475.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16						c.(391-393)Aaa>Taa		S100P binding protein							57	57	57					1																	33292091		2203	4300	6503	SO:0001587	stop_gained	64766					nucleus	calcium-dependent protein binding	g.chr1:33292091A>T	BX647916	CCDS30666.1	1p35.1	2008-02-05			ENSG00000116497	ENSG00000116497			25768	protein-coding gene	gene with protein product	"S100P binding protein 1"	611889				12477932	Standard	NM_022753		Approved	FLJ12903, S100PBPR	uc001bwc.4	Q96BU1	OTTHUMG00000003955	ENST00000373475.5:c.391A>T	1.37:g.33292091A>T	ENSP00000362574:p.Lys131*					S100PBP_ENST00000373476.1_Nonsense_Mutation_p.K131*|S100PBP_ENST00000398243.3_Nonsense_Mutation_p.K131*|S100PBP_ENST00000356689.3_3'UTR	p.K131*	NM_022753.3	NP_073590.2	Q96BU1	S1PBP_HUMAN			3	645	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	131						Nonsense_Mutation	SNP	ENST00000373475.5	37	c.391A>T	CCDS30666.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.992711	0.74703	.	.	ENSG00000116497	ENST00000373476;ENST00000373475;ENST00000531123;ENST00000398243;ENST00000356689;ENST00000531256;ENST00000482212	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-19.8383	12.9295	0.58278	1.0:0.0:0.0:0.0	.	.	.	.	X	131	.	.	K	+	1	0	S100PBP	33064678	0.992000	0.36948	0.987000	0.45799	0.844000	0.47949	3.998000	0.57024	2.371000	0.80710	0.533000	0.62120	AAA		0.413	S100PBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011266.1	NM_022753		10	38	0	0	0	1	0	10	38					T	33292091	A	T	33292091	4	4	467	1	0	0	0	0	0	1	0	0	13791	363	13	5	393	5	S100PBP	1	33292091	Nonsense_Mutation	SNP	A	TCGA-J8-A3O2-01A-11D-A23M-08		33292091	215958530	1	9571											
FOXD2	2306	broad.mit.edu	37	chr1	47904295	47904295	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcagcggccgcttcccctActaccgggagaagttccccg	10	17	1	1			TCGA-J8-A3O2-01A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ade6333-73db-4993-83a1-00da914ab0c5	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr1:47904295A>G	ENST00000334793.5	+	1	2607	c.488A>G	c.(487-489)tAc>tGc	p.Y163C		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	163					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		CGCTTCCCCTACTACCGGGAG	0.622																																						ENST00000334793.5																			0				lung(4)	4						c.(487-489)tAc>tGc		forkhead box D2							47	60	56					1																	47904295		2203	4300	6503	SO:0001583	missense	2306				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system 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 activator activity|transcription factor binding	g.chr1:47904295A>G	AF042832	CCDS30708.1	1p34-p32	2008-02-05			ENSG00000186564	ENSG00000186564		"Forkhead boxes"	3803	protein-coding gene	gene with protein product		602211		FKHL17		9403061, 12621056	Standard	NM_004474		Approved	FREAC9	uc001crm.3	O60548	OTTHUMG00000007950	ENST00000334793.5:c.488A>G	1.37:g.47904295A>G	ENSP00000335493:p.Tyr163Cys						p.Y163C	NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN		READ - Rectum adenocarcinoma(2;0.0908)	1	2607	+			163					Q5SVZ3	Missense_Mutation	SNP	ENST00000334793.5	37	c.488A>G	CCDS30708.1	.	.	.	.	.	.	.	.	.	.	A	17.49	3.402406	0.62288	.	.	ENSG00000186564	ENST00000334793	D	0.97598	-4.45	4.19	4.19	0.49359	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	U	0.000000	D	0.98723	0.9571	H	0.94925	3.6	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.99414	1.0931	10	0.87932	D	0	.	12.2367	0.54520	1.0:0.0:0.0:0.0	.	163	O60548	FOXD2_HUMAN	C	163	ENSP00000335493:Y163C	ENSP00000335493:Y163C	Y	+	2	0	FOXD2	47676882	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.194000	0.51005	1.517000	0.48917	0.352000	0.21897	TAC		0.622	FOXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021831.1	NM_004474		43	108	0	0	0	1	0	43	108					G	47904295	A	G	47904295	3	3	467	1	0	0	0	0	1	0	0	0	5997	391	14	3	490	3	FOXD2	1	47904295	Missense_Mutation	SNP	A	TCGA-J8-A3O2-01A-11D-A23M-08	14612204	47904295	201346326	2	9572											
C1orf162	128346	broad.mit.edu	37	chr1	112020367	112020367	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gatcactccaagccccaggcCccagatcctcactcagatcc	6	19	3	2			TCGA-J8-A3O2-01A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ade6333-73db-4993-83a1-00da914ab0c5	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr1:112020367C>G	ENST00000343534.5	+	5	547	c.297C>G	c.(295-297)gcC>gcG	p.A99A	C1orf162_ENST00000369718.3_Silent_p.A74A|C1orf162_ENST00000464591.1_Intron	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN	chromosome 1 open reading frame 162	99						integral component of membrane (GO:0016021)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)		AGCCCCAGGCCCCAGATCCTC	0.552																																						ENST00000343534.5																			0				NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5						c.(295-297)gcC>gcG		chromosome 1 open reading frame 162							107	109	108					1																	112020367		2203	4300	6503	SO:0001819	synonymous_variant	128346					integral to membrane		g.chr1:112020367C>G	BC017973	CCDS837.1, CCDS72837.1	1p13.2	2008-02-05			ENSG00000143110	ENSG00000143110			28344	protein-coding gene	gene with protein product						12477932	Standard	XM_005270475		Approved	MGC24133	uc001ebe.3	Q8NEQ5	OTTHUMG00000011750	ENST00000343534.5:c.297C>G	1.37:g.112020367C>G						C1orf162_ENST00000464591.1_Intron|C1orf162_ENST00000369718.3_Silent_p.A74A	p.A99A	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)	5	547	+		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	99					Q5QNZ1	Silent	SNP	ENST00000343534.5	37	c.297C>G	CCDS837.1																																																																																				0.552	C1orf162-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032471.1	NM_174896		16	92	0	0	0	1	0	16	92					G	112020367	C	G	112020367	2	3	467	1	0	0	0	0	0	0	0	1	2010	610	22	4		4	C1orf162	1	112020367	Silent	SNP	C	TCGA-J8-A3O2-01A-11D-A23M-08	64116072	112020367	137230254	3	9573											
BTD	686	broad.mit.edu	37	chr3	15686446	15686446	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacccatcccatagtaagttTttaaaaattttgtcaggcga	7	8	1	0			TCGA-J8-A3O2-01A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ade6333-73db-4993-83a1-00da914ab0c5	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr3:15686446T>C	ENST00000303498.5	+	4	1192	c.1083T>C	c.(1081-1083)ttT>ttC	p.F361F	BTD_ENST00000449107.1_Silent_p.F363F|BTD_ENST00000437172.1_Silent_p.F363F|BTD_ENST00000383778.4_Silent_p.F341F	NM_000060.2|NM_001281723.1	NP_000051.1|NP_001268652.1	P43251	BTD_HUMAN	biotinidase	361	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				biotin metabolic process (GO:0006768)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	biotin carboxylase activity (GO:0004075)|biotinidase activity (GO:0047708)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						ATAGTAAGTTTTTAAAAATTT	0.473																																						ENST00000383778.4																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						c.(1021-1023)ttT>ttC		biotinidase							79	80	80					3																	15686446		2203	4300	6503	SO:0001819	synonymous_variant	686				central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity	g.chr3:15686446T>C	AF018631	CCDS2628.1, CCDS63563.1, CCDS63564.1, CCDS63565.1	3p25	2007-03-26			ENSG00000169814	ENSG00000169814	3.5.1.12		1122	protein-coding gene	gene with protein product		609019				8001986	Standard	NM_001281723		Approved		uc003cah.3	P43251	OTTHUMG00000129861	ENST00000303498.5:c.1083T>C	3.37:g.15686446T>C						BTD_ENST00000303498.5_Silent_p.F361F|BTD_ENST00000437172.1_Silent_p.F363F|BTD_ENST00000449107.1_Silent_p.F363F	p.F341F			P43251	BTD_HUMAN			4	1381	+			361			CN hydrolase.		A6NHF2|B2R865|B4DFX1|B4DLJ9|B7Z7C9|F8W1Q3|Q96EM9	Silent	SNP	ENST00000303498.5	37	c.1023T>C	CCDS2628.1																																																																																				0.473	BTD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252103.2	NM_000060		30	93	0	0	0	1	0	30	93					C	15686446	T	C	15686446	2	2	467	1	0	0	0	0	0	0	0	1	1550	1838	64	3		3	BTD	3	15686446	Silent	SNP	T	TCGA-J8-A3O2-01A-11D-A23M-08		15686446	182335984	4	9574											
HNRNPD	3184	broad.mit.edu	37	chr4	83280727	83280727	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtctacaacttcaccaaatTtggaaaagtagtccttcaga	6	9	3	1			TCGA-J8-A3O2-01A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ade6333-73db-4993-83a1-00da914ab0c5	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr4:83280727T>C	ENST00000313899.7	-	3	633	c.356A>G	c.(355-357)aAa>aGa	p.K119R	HNRNPD_ENST00000352301.4_Missense_Mutation_p.K100R|HNRNPD_ENST00000543098.1_Missense_Mutation_p.K67R|HNRNPD_ENST00000353341.4_Missense_Mutation_p.K119R|HNRNPD_ENST00000541060.1_Intron|HNRNPD_ENST00000508119.1_5'Flank	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	119	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian regulation of translation (GO:0097167)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|regulation of circadian rhythm (GO:0042752)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						TTCACCAAATTTGGAAAAGTA	0.383																																						ENST00000313899.7																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						c.(355-357)aAa>aGa		heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)							121	119	120					4																	83280727		2203	4300	6503	SO:0001583	missense	3184				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding	g.chr4:83280727T>C	AF026126	CCDS3590.1, CCDS3591.1, CCDS3592.1	4q21	2013-02-12	2002-08-29	2008-04-18	ENSG00000138668	ENSG00000138668		"RNA binding motif (RRM) containing"	5036	protein-coding gene	gene with protein product		601324	"heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA-binding protein 1, 37kD)"	AUF1, HNRPD		9615222	Standard	NM_001003810		Approved		uc003hmm.1	Q14103	OTTHUMG00000130290	ENST00000313899.7:c.356A>G	4.37:g.83280727T>C	ENSP00000313199:p.Lys119Arg					HNRNPD_ENST00000541060.1_Intron|HNRNPD_ENST00000353341.4_Missense_Mutation_p.K119R|HNRNPD_ENST00000543098.1_Missense_Mutation_p.K67R|HNRNPD_ENST00000352301.4_Missense_Mutation_p.K100R	p.K119R	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN			3	633	-			119			RRM 1.		A8K9J2|P07029|Q01858|Q14100|Q14101|Q14102|Q4W5A1|Q9UCE8|Q9UCE9	Missense_Mutation	SNP	ENST00000313899.7	37	c.356A>G	CCDS3592.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.185784	0.57909	.	.	ENSG00000138668	ENST00000313899;ENST00000353341;ENST00000352301;ENST00000543098;ENST00000307213;ENST00000509263;ENST00000507010;ENST00000515432;ENST00000503822;ENST00000509107	T;T;T;T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17;2.17;2.17;2.17	5.86	5.86	0.93980	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.19327	0.0464	L	0.28608	0.87	0.80722	D	1	B;B;B;B	0.31077	0.307;0.16;0.078;0.236	B;B;B;B	0.33960	0.144;0.091;0.108;0.173	T	0.04103	-1.0977	10	0.30078	T	0.28	.	16.5602	0.84551	0.0:0.0:0.0:1.0	.	100;119;100;119	Q14103-4;Q14103-3;Q14103-2;Q14103	.;.;.;HNRPD_HUMAN	R	119;119;100;67;94;52;119;21;100;73	ENSP00000313199:K119R;ENSP00000313327:K119R;ENSP00000305860:K100R;ENSP00000439380:K67R;ENSP00000420926:K52R;ENSP00000421952:K119R;ENSP00000426666:K21R;ENSP00000422615:K100R;ENSP00000425439:K73R	ENSP00000307544:K94R	K	-	2	0	HNRNPD	83499751	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.606000	0.82863	2.367000	0.80283	0.528000	0.53228	AAA		0.383	HNRNPD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252630.2	NM_031370		15	69	0	0	0	1	0	15	69					C	83280727	T	C	83280727	3	2	467	1	0	0	0	0	1	0	0	0	7264	1841	64	3	735	3	HNRNPD	4	83280727	Missense_Mutation	SNP	T	TCGA-J8-A3O2-01A-11D-A23M-08		83280727	107873549	5	9575											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-J8-A3O2-01A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ade6333-73db-4993-83a1-00da914ab0c5	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		13	53	0	0	0	1	0	13	53					T	140453136	A	T	140453136	3	4	467	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-J8-A3O2-01A-11D-A23M-08		140453136	18685527	6	9576											
ASB10	136371	broad.mit.edu	37	chr7	150878400	150878400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtccagccttcggcattgcGggcatcaggacatgcccccc	12	16	1	0	rs199755542		TCGA-J8-A3O2-01A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ade6333-73db-4993-83a1-00da914ab0c5	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr7:150878400G>A	ENST00000420175.2	-	3	754	c.730C>T	c.(730-732)Cgc>Tgc	p.R244C	ASB10_ENST00000434669.1_Missense_Mutation_p.R289C|ASB10_ENST00000422024.1_Missense_Mutation_p.R289C|ASB10_ENST00000377867.3_Missense_Mutation_p.R229C|ASB10_ENST00000275838.1_Missense_Mutation_p.R244C			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	244					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCGGCATTGCGGGCATCAGGA	0.657													G|||	1	0.000199681	0	0	5008	,	,		15729	0.001		0	False		,,,				2504	0					ENST00000422024.1																			0				NS(1)|endometrium(2)|lung(7)|skin(2)	12						c.(865-867)Cgc>Tgc		ankyrin repeat and SOCS box containing 10							35	35	35					7																	150878400		2203	4300	6503	SO:0001583	missense	136371				intracellular signal transduction			g.chr7:150878400G>A	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"Ankyrin repeat domain containing"	17185	protein-coding gene	gene with protein product		615054	"ankyrin repeat and SOCS box-containing 10", "glaucoma 1, open angle, F (adult-onset)"	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.730C>T	7.37:g.150878400G>A	ENSP00000391137:p.Arg244Cys					ASB10_ENST00000434669.1_Missense_Mutation_p.R289C|ASB10_ENST00000377867.3_Missense_Mutation_p.R229C|ASB10_ENST00000275838.1_Missense_Mutation_p.R244C|ASB10_ENST00000420175.2_Missense_Mutation_p.R244C	p.R289C	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	990	-			244					A0AVH0|Q6ZUL6	Missense_Mutation	SNP	ENST00000420175.2	37	c.865C>T	CCDS47750.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.52	3.145780	0.57044	.	.	ENSG00000146926	ENST00000275838;ENST00000377867;ENST00000422024;ENST00000434669;ENST00000420175	T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32	5.24	5.24	0.73138	Ankyrin repeat-containing domain (3);	0.191712	0.46145	D	0.000311	T	0.75376	0.3841	L	0.52823	1.66	0.41596	D	0.988824	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.65874	0.899;0.939;0.926	T	0.76526	-0.2927	10	0.56958	D	0.05	-7.3683	11.9617	0.53011	0.0:0.0:0.7268:0.2732	.	229;244;289	Q8WXI3-3;Q8WXI3;D5MNW9	.;ASB10_HUMAN;.	C	244;229;289;289;244	ENSP00000275838:R244C;ENSP00000367098:R229C;ENSP00000401369:R289C;ENSP00000398247:R289C;ENSP00000391137:R244C	ENSP00000275838:R244C	R	-	1	0	ASB10	150509333	0.031000	0.19500	0.559000	0.28332	0.551000	0.35334	2.131000	0.42074	2.606000	0.88127	0.655000	0.94253	CGC		0.657	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	NM_080871		3	45	0	0	0	1	0	3	45					A	150878400	G	A	150878400	3	1	467	1	0	0	0	0	1	0	0	0	1014	1116	39	1	685	1	ASB10	7	150878400	Missense_Mutation	SNP	G	TCGA-J8-A3O2-01A-11D-A23M-08	10425264	150878400	8260263	7	9577											
TMEM67	91147	broad.mit.edu	37	chr8	94767325	94767325	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgatatctccgccctctcGtgtgttccttgtggagctaa	9	11	2	1			TCGA-J8-A3O2-01A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ade6333-73db-4993-83a1-00da914ab0c5	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr8:94767325G>A	ENST00000453321.3	+	1	241	c.183G>A	c.(181-183)tcG>tcA	p.S61S	TMEM67_ENST00000409623.3_5'UTR	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	61					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			CCGCCCTCTCGTGTGTTCCTT	0.567																																						ENST00000453321.3																			0				breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41						c.(181-183)tcG>tcA		transmembrane protein 67							110	106	107					8																	94767325		2203	4300	6503	SO:0001819	synonymous_variant	91147				cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding	g.chr8:94767325G>A	BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"Meckelin"	609884	"Meckel syndrome, type 3"	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.183G>A	8.37:g.94767325G>A						TMEM67_ENST00000409623.3_5'UTR	p.S61S	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00896)		1	241	+	Breast(36;4.14e-07)		61					B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Silent	SNP	ENST00000453321.3	37	c.183G>A	CCDS6258.2	.	.	.	.	.	.	.	.	.	.	G	3.576	-0.086701	0.07097	.	.	ENSG00000164953	ENST00000521517	.	.	.	5.35	4.48	0.54585	.	.	.	.	.	T	0.69205	0.3085	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68625	-0.5359	4	.	.	.	-5.3862	13.4667	0.61258	0.0:0.8412:0.1588:0.0	.	.	.	.	M	59	.	.	V	+	1	0	TMEM67	94836501	0.994000	0.37717	0.999000	0.59377	0.124000	0.20399	0.382000	0.20635	1.501000	0.48654	-0.211000	0.12701	GTG		0.567	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2	NM_153704		4	138	0	0	0	1	0	4	138					A	94767325	G	A	94767325	2	1	467	1	0	0	0	0	0	0	0	1	16193	1132	40	1		1	TMEM67	8	94767325	Silent	SNP	G	TCGA-J8-A3O2-01A-11D-A23M-08		94767325	51596697	8	9578											
GBA2	57704	broad.mit.edu	37	chr9	35748347	35748347	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatggggtctactcacctcaAgcccatgcctatatgcttta	7	12	3	0			TCGA-J8-A3O2-01A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ade6333-73db-4993-83a1-00da914ab0c5	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr9:35748347A>C	ENST00000378103.3	-	1	878	c.355T>G	c.(355-357)Ttg>Gtg	p.L119V	RGP1_ENST00000456972.2_5'Flank|GBA2_ENST00000545786.1_Missense_Mutation_p.L119V|GBA2_ENST00000378094.4_Missense_Mutation_p.L119V|RGP1_ENST00000378078.4_5'Flank	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	119					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)			ACTCACCTCAAGCCCATGCCT	0.483																																						ENST00000378094.4																			0				NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21						c.(355-357)Ttg>Gtg		glucosidase, beta (bile acid) 2							77	62	67					9																	35748347		2203	4300	6503	SO:0001583	missense	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.chr9:35748347A>C	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.355T>G	9.37:g.35748347A>C	ENSP00000367343:p.Leu119Val					GBA2_ENST00000545786.1_Missense_Mutation_p.L119V|GBA2_ENST00000378103.3_Missense_Mutation_p.L119V	p.L119V			Q9HCG7	GBA2_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		1	868	-	all_epithelial(49;0.167)		119					D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	c.355T>G	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	A	12.14	1.848580	0.32699	.	.	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	5.78	0.605	0.17553	.	0.476626	0.22135	N	0.064132	T	0.22322	0.0538	L	0.31664	0.95	0.20074	N	0.999935	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.001	T	0.08953	-1.0697	9	0.25751	T	0.34	.	1.9311	0.03327	0.3717:0.1418:0.0763:0.4102	.	119;119;119	F5H7P6;Q9HCG7-2;Q9HCG7	.;.;GBA2_HUMAN	V	119	.	ENSP00000367334:L119V	L	-	1	2	GBA2	35738347	0.870000	0.30015	0.890000	0.34922	0.996000	0.88848	0.015000	0.13355	0.138000	0.18790	0.482000	0.46254	TTG		0.483	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		13	39	0	0	0	1	0	13	39					C	35748347	A	C	35748347	3	2	467	1	0	0	0	0	1	0	0	0	6267	69	3	5	2496	5	GBA2	9	35748347	Missense_Mutation	SNP	A	TCGA-J8-A3O2-01A-11D-A23M-08		35748347	105465084	9	9579											
WAPAL	23063	broad.mit.edu	37	chr10	88260115	88260115	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttattggccctacagtaCgtcctacagttggttggcct	10	10	0	0			TCGA-J8-A3O2-01A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ade6333-73db-4993-83a1-00da914ab0c5	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr10:88260115C>T	ENST00000298767.5	-	3	1357	c.885G>A	c.(883-885)acG>acA	p.T295T		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	295	Mediates interaction with the cohesin complex.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						CCCTACAGTACGTCCTACAGT	0.413																																						ENST00000298767.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						c.(883-885)acG>acA		wings apart-like homolog (Drosophila)							135	124	127					10																	88260115		2203	4300	6503	SO:0001819	synonymous_variant	23063				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	g.chr10:88260115C>T	AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"friend of EBNA2"	610754	"KIAA0261"	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.885G>A	10.37:g.88260115C>T							p.T295T	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN			3	1357	-			295			Mediates interaction with the cohesin complex.		A7E2B5|Q5VSK5|Q8IX10|Q92549	Silent	SNP	ENST00000298767.5	37	c.885G>A	CCDS7375.1																																																																																				0.413	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		19	119	0	0	0	1	0	19	119					T	88260115	C	T	88260115	2	4	467	1	0	0	0	0	0	0	0	1	17245	523	19	1		1	WAPAL	10	88260115	Silent	SNP	C	TCGA-J8-A3O2-01A-11D-A23M-08		88260115	47274632	10	9580											
YBX2	51087	broad.mit.edu	37	chr17	7193617	7193617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggggcctcgcacaaaccGccgtcggtagaagaagggtg	16	12	0	2			TCGA-J8-A3O2-01A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ade6333-73db-4993-83a1-00da914ab0c5	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr17:7193617G>A	ENST00000007699.5	-	5	760	c.697C>T	c.(697-699)Cgg>Tgg	p.R233W	YBX2_ENST00000570627.1_5'Flank	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	233	Pro-rich.|Required for mRNA-binding.				mRNA stabilization (GO:0048255)|negative regulation of binding (GO:0051100)|negative regulation of translation (GO:0017148)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|translational attenuation (GO:0009386)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lipid binding (GO:0008289)|mRNA 3'-UTR binding (GO:0003730)|ribonucleoprotein complex binding (GO:0043021)|translation regulator activity (GO:0045182)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						CGCACAAACCGCCGTCGGTAG	0.652																																						ENST00000007699.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						c.(697-699)Cgg>Tgg		Y box binding protein 2							89	109	102					17																	7193617		2199	4290	6489	SO:0001583	missense	51087				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding	g.chr17:7193617G>A	AF096834	CCDS11098.1	17p13.1	2013-12-20			ENSG00000006047	ENSG00000006047			17948	protein-coding gene	gene with protein product		611447				10100484, 9780336	Standard	NM_015982		Approved	MSY2, CSDA3	uc002gfq.2	Q9Y2T7	OTTHUMG00000177992	ENST00000007699.5:c.697C>T	17.37:g.7193617G>A	ENSP00000007699:p.Arg233Trp						p.R233W	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN			5	760	-			233			Pro-rich.|Required for mRNA-binding.		D3DTP1|Q8N4P0	Missense_Mutation	SNP	ENST00000007699.5	37	c.697C>T	CCDS11098.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587076	0.66105	.	.	ENSG00000006047	ENST00000007699	T	0.26518	1.73	4.73	4.73	0.59995	.	0.077721	0.48767	D	0.000178	T	0.47358	0.1441	L	0.61218	1.895	0.49687	D	0.999817	D	0.89917	1.0	D	0.79784	0.993	T	0.29701	-1.0003	10	0.39692	T	0.17	-13.6292	15.6129	0.76740	0.0:0.0:1.0:0.0	.	233	Q9Y2T7	YBOX2_HUMAN	W	233	ENSP00000007699:R233W	ENSP00000007699:R233W	R	-	1	2	YBX2	7134341	1.000000	0.71417	0.997000	0.53966	0.963000	0.63663	2.219000	0.42899	2.642000	0.89623	0.561000	0.74099	CGG		0.652	YBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440172.2	NM_015982		65	206	0	0	0	1	0	65	206					A	7193617	G	A	7193617	3	1	467	1	0	0	0	0	1	0	0	0	17467	1086	38	1	413	1	YBX2	17	7193617	Missense_Mutation	SNP	G	TCGA-J8-A3O2-01A-11D-A23M-08		7193617	74001593	11	9581											
PPP1R9B	84687	broad.mit.edu	37	chr17	48221042	48221042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccaggcccatgtctgcccCggcgcccatgccgatgatgc	11	18	1	1			TCGA-J8-A3O2-01A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ade6333-73db-4993-83a1-00da914ab0c5	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr17:48221042C>T	ENST00000316878.6	-	5	1542	c.1540G>A	c.(1540-1542)Ggg>Agg	p.G514R	PPP1R9B_ENST00000501501.2_5'UTR|AC002401.1_ENST00000451776.1_RNA	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	514	Interacts with RGS2. {ECO:0000250}.|PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to morphine (GO:0071315)|dendrite development (GO:0016358)|filopodium assembly (GO:0046847)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of cell proliferation (GO:0042127)|regulation of exit from mitosis (GO:0007096)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of protein phosphorylation (GO:0001932)|RNA splicing (GO:0008380)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|protein phosphatase type 1 complex (GO:0000164)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						ATGTCTGCCCCGGCGCCCATG	0.627																																						ENST00000316878.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(1540-1542)Ggg>Agg		protein phosphatase 1, regulatory subunit 9B							77	87	84					17																	48221042		2096	4212	6308	SO:0001583	missense	84687				cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity	g.chr17:48221042C>T	AJ401189	CCDS74102.1	17q21.33	2013-01-31	2011-10-04	2001-07-02	ENSG00000108819	ENSG00000108819		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9298	protein-coding gene	gene with protein product	"spinophilin", "Neurabin-2"	603325	"protein phosphatase 1, regulatory subunit 9B, spinophilin", "protein phosphatase 1, regulatory (inhibitor) subunit 9B"	PPP1R6, PPP1R9		9275233	Standard	NM_032595		Approved	Spn, SPINO	uc002iqh.4	Q96SB3	OTTHUMG00000162008	ENST00000316878.6:c.1540G>A	17.37:g.48221042C>T	ENSP00000475417:p.Gly514Arg					PPP1R9B_ENST00000501501.2_5'UTR|AC002401.1_ENST00000451776.1_RNA	p.G514R	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN			5	1542	-			514			Interacts with RGS2 (By similarity).|PDZ.		Q8TCR9	Missense_Mutation	SNP	ENST00000316878.6	37	c.1540G>A																																																																																					0.627	PPP1R9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032595		21	84	0	0	0	1	0	21	84					T	48221042	C	T	48221042	3	4	467	1	0	0	0	0	1	0	0	0	12379	652	23	1	939	1	PPP1R9B	17	48221042	Missense_Mutation	SNP	C	TCGA-J8-A3O2-01A-11D-A23M-08	41027425	48221042	32974168	12	9582											
FHOD3	80206	broad.mit.edu	37	chr18	34261476	34261476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagagagagagaggcggcGgcaggagagagaagaaaggt	20	4	0	6			TCGA-J8-A3O2-01A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ade6333-73db-4993-83a1-00da914ab0c5	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr18:34261476G>A	ENST00000359247.4	+	12	1388	c.1388G>A	c.(1387-1389)cGg>cAg	p.R463Q	FHOD3_ENST00000590592.1_Missense_Mutation_p.R638Q|FHOD3_ENST00000445677.1_Missense_Mutation_p.R425Q|FHOD3_ENST00000257209.4_Missense_Mutation_p.R463Q|FHOD3_ENST00000591635.1_Intron	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	463					actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GAGAGGCGGCGGCAGGAGAGA	0.433																																						ENST00000257209.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(1387-1389)cGg>cAg		formin homology 2 domain containing 3							81	91	87					18																	34261476		2203	4300	6503	SO:0001583	missense	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34261476G>A	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.1388G>A	18.37:g.34261476G>A	ENSP00000352186:p.Arg463Gln					FHOD3_ENST00000445677.1_Missense_Mutation_p.R425Q|FHOD3_ENST00000359247.4_Missense_Mutation_p.R463Q|FHOD3_ENST00000590592.1_Missense_Mutation_p.R638Q|FHOD3_ENST00000591635.1_Intron	p.R463Q	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			12	1510	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	463					A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37	c.1388G>A		.	.	.	.	.	.	.	.	.	.	G	29.8	5.039890	0.93630	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.43294	1.15;0.95;1.31	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.64972	0.2647	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.83275	0.975;0.988;0.996;0.992	T	0.68401	-0.5418	10	0.72032	D	0.01	.	17.3308	0.87262	0.0:0.0:1.0:0.0	.	425;463;463;638	Q2V2M9-2;Q2V2M9;Q2V2M9-3;E5F5Q0	.;FHOD3_HUMAN;.;.	Q	463;463;425	ENSP00000257209:R463Q;ENSP00000352186:R463Q;ENSP00000411430:R425Q	ENSP00000257209:R463Q	R	+	2	0	FHOD3	32515474	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.014000	0.93635	2.501000	0.84356	0.655000	0.94253	CGG		0.433	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		11	47	0	0	0	1	0	11	47					A	34261476	G	A	34261476	3	1	467	1	0	0	0	0	1	0	0	0	5883	1116	39	1	1434	1	FHOD3	18	34261476	Missense_Mutation	SNP	G	TCGA-J8-A3O2-01A-11D-A23M-08		34261476	43815772	13	9583											
C20orf117	140710	broad.mit.edu	37	chr20	35444296	35444296	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctcctcttcgacaaactGcaggtgtcgccgcagctctg	11	15	2	0			TCGA-J8-A3O2-01A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ade6333-73db-4993-83a1-00da914ab0c5	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr20:35444296G>A	ENST00000357779.3	-	5	1161	c.835C>T	c.(835-837)Cag>Tag	p.Q279*	SOGA1_ENST00000279034.6_Nonsense_Mutation_p.Q279*|SOGA1_ENST00000237536.4_Nonsense_Mutation_p.Q517*|SOGA1_ENST00000456801.2_Nonsense_Mutation_p.Q120*			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	279					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TCGACAAACTGCAGGTGTCGC	0.667																																						ENST00000237536.4																			0				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						c.(1549-1551)Cag>Tag		suppressor of glucose, autophagy associated 1							30	36	34					20																	35444296		2136	4244	6380	SO:0001587	stop_gained	140710							g.chr20:35444296G>A	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"suppressor of glucose by autophagy", "suppressor of glucose from autophagy"		"chromosome 20 open reading frame 117", "KIAA0889"	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.835C>T	20.37:g.35444296G>A	ENSP00000350424:p.Gln279*					SOGA1_ENST00000357779.3_Nonsense_Mutation_p.Q279*|SOGA1_ENST00000279034.5_Nonsense_Mutation_p.Q279*|SOGA1_ENST00000456801.2_Nonsense_Mutation_p.Q120*	p.Q517*	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN			5	1890	-			279					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Nonsense_Mutation	SNP	ENST00000357779.3	37	c.1549C>T		.	.	.	.	.	.	.	.	.	.	G	43	10.186865	0.99354	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	.	.	.	5.24	5.24	0.73138	.	0.114202	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-43.5489	17.7588	0.88457	0.0:0.0:1.0:0.0	.	.	.	.	X	517;279;120;279	.	ENSP00000237536:Q517X	Q	-	1	0	KIAA0889	34877710	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.615000	0.98356	2.723000	0.93209	0.655000	0.94253	CAG		0.667	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		5	11	0	0	0	1	0	5	11					A	35444296	G	A	35444296	4	1	467	1	0	0	0	0	0	1	0	0	2083	1328	46	2	3542	2	C20orf117	20	35444296	Nonsense_Mutation	SNP	G	TCGA-J8-A3O2-01A-11D-A23M-08		35444296	27581224	14	9584											
HEATR1	55127	broad.mit.edu	37	chr1	236721596	236721596	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtcacctctgctatgcacagCagcgcgcttcccaggacatt	9	15	2	0			TCGA-J8-A3YD-01A-11D-A22Z-08	TCGA-J8-A3YD-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bafc6f-f6e5-4c20-a95b-6c876f6ade10	073b36fb-8de3-49fd-90aa-fadc538d6809	g.chr1:236721596C>G	ENST00000366582.3	-	36	5259	c.5145G>C	c.(5143-5145)ctG>ctC	p.L1715L	HEATR1_ENST00000366581.2_Silent_p.L1634L	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1715					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTATGCACAGCAGCGCGCTTC	0.572																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(5143-5145)ctG>ctC		HEAT repeat containing 1							94	90	91					1																	236721596		2203	4300	6503	SO:0001819	synonymous_variant	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236721596C>G	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.5145G>C	1.37:g.236721596C>G						HEATR1_ENST00000366581.2_Silent_p.L1634L	p.L1715L	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		36	5259	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	1715					Q5T3Q8|Q6P197|Q9NW23	Silent	SNP	ENST00000366582.3	37	c.5145G>C	CCDS31066.1																																																																																				0.572	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		5	60	0	0	0	1	0	5	60					G	236721596	C	G	236721596	2	3	468	1	0	0	0	0	0	0	0	1	7027	697	25	4		4	HEATR1	1	236721596	Silent	SNP	C	TCGA-J8-A3YD-01A-11D-A22Z-08		236721596	12529025	1	9585											
DCTN1	1639	broad.mit.edu	37	chr2	74594021	74594021	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcatgaagtttccagatcCcggagcaggagggcaatatc	12	10	0	2			TCGA-J8-A3YD-01A-11D-A22Z-08	TCGA-J8-A3YD-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bafc6f-f6e5-4c20-a95b-6c876f6ade10	073b36fb-8de3-49fd-90aa-fadc538d6809	g.chr2:74594021C>T	ENST00000361874.3	-	21	2672	c.2355G>A	c.(2353-2355)cgG>cgA	p.R785R	DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000409438.1_Silent_p.R651R|DCTN1_ENST00000409567.3_Silent_p.R765R|DCTN1_ENST00000394003.3_Silent_p.R778R|DCTN1_ENST00000409868.1_Silent_p.R768R|DCTN1_ENST00000409240.1_Silent_p.R748R|DCTN1_ENST00000407639.2_Silent_p.R651R	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	785			R -> W (in ALS; associated with disease susceptibility). {ECO:0000269|PubMed:15326253}.		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TTTCCAGATCCCGGAGCAGGA	0.532																																						ENST00000361874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						c.(2353-2355)cgG>cgA		dynactin 1							63	61	62					2																	74594021		2203	4300	6503	SO:0001819	synonymous_variant	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74594021C>T		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"p150 glued homolog (Drosophila)"	601143	"dynactin 1 (p150, Glued (Drosophila) homolog)"			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.2355G>A	2.37:g.74594021C>T						DCTN1_ENST00000407639.2_Silent_p.R651R|DCTN1_ENST00000409567.3_Silent_p.R765R|DCTN1_ENST00000394003.3_Silent_p.R778R|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000409438.1_Silent_p.R651R|DCTN1_ENST00000409868.1_Silent_p.R768R|DCTN1_ENST00000409240.1_Silent_p.R748R	p.R785R	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN			21	2672	-			785		R -> W (in susceptibility to amyotrophic lateral sclerosis).			A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Silent	SNP	ENST00000361874.3	37	c.2355G>A	CCDS1939.1																																																																																				0.532	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		5	36	0	0	0	1	0	5	36					T	74594021	C	T	74594021	2	4	468	1	0	0	0	0	0	0	0	1	4306	610	22	2		2	DCTN1	2	74594021	Silent	SNP	C	TCGA-J8-A3YD-01A-11D-A22Z-08		74594021	168605352	2	9586											
TF	7018	broad.mit.edu	37	chr3	133483733	133483733	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgcagagagcgataattgtGaggatacaccagaggcaggt	14	7	0	3			TCGA-J8-A3YD-01A-11D-A22Z-08	TCGA-J8-A3YD-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bafc6f-f6e5-4c20-a95b-6c876f6ade10	073b36fb-8de3-49fd-90aa-fadc538d6809	g.chr3:133483733G>A	ENST00000402696.3	+	11	1797	c.1312G>A	c.(1312-1314)Gag>Aag	p.E438K	TF_ENST00000264998.3_Missense_Mutation_p.E311K	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	438	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	CGATAATTGTGAGGATACACC	0.363																																						ENST00000402696.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1312-1314)Gag>Aag		transferrin	Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)						137	151	146					3																	133483733		2203	4300	6503	SO:0001583	missense	7018				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	g.chr3:133483733G>A		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.1312G>A	3.37:g.133483733G>A	ENSP00000385834:p.Glu438Lys					TF_ENST00000264998.3_Missense_Mutation_p.E311K	p.E438K	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN			11	1797	+			438			Transferrin-like 2.		O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	ENST00000402696.3	37	c.1312G>A	CCDS3080.1	.	.	.	.	.	.	.	.	.	.	G	1.748	-0.489987	0.04322	.	.	ENSG00000091513	ENST00000402696;ENST00000264998	T;T	0.06687	3.27;3.27	5.06	-8.12	0.01078	.	7.394640	0.00166	N	0.000000	T	0.03827	0.0108	N	0.16656	0.425	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37197	-0.9716	10	0.07813	T	0.8	.	4.8562	0.13561	0.1836:0.2286:0.4754:0.1124	.	438	P02787	TRFE_HUMAN	K	438;311	ENSP00000385834:E438K;ENSP00000264998:E311K	ENSP00000264998:E311K	E	+	1	0	TF	134966423	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.997000	0.01470	-1.553000	0.01702	-0.302000	0.09304	GAG		0.363	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		4	70	0	0	0	1	0	4	70					A	133483733	G	A	133483733	3	1	468	1	0	0	0	0	1	0	0	0	15782	1291	45	2	1354	2	TF	3	133483733	Missense_Mutation	SNP	G	TCGA-J8-A3YD-01A-11D-A22Z-08		133483733	64538697	3	9587											
CRIPAK	285464	broad.mit.edu	37	chr4	1388421	1388421	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tgctcacacatgtcgatgcgGagtgcccgcctgctcacaca	10	15	2	0			TCGA-J8-A3YD-01A-11D-A22Z-08	TCGA-J8-A3YD-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bafc6f-f6e5-4c20-a95b-6c876f6ade10	073b36fb-8de3-49fd-90aa-fadc538d6809	g.chr4:1388421G>C	ENST00000324803.4	+	1	3082	c.122G>C	c.(121-123)gGa>gCa	p.G41A		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	41					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TGTCGATGCGGAGTGCCCGCC	0.652																																						ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(121-123)gGa>gCa		cysteine-rich PAK1 inhibitor							211	200	204					4																	1388421		2203	4300	6503	SO:0001583	missense	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1388421G>C	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.122G>C	4.37:g.1388421G>C	ENSP00000323978:p.Gly41Ala						p.G41A	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3082	+			41					Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	c.122G>C	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	-	6.863	0.528619	0.13127	.	.	ENSG00000179979	ENST00000324803;ENST00000382944	T	0.27557	1.66	0.596	0.596	0.17496	Post-SET domain (1);	.	.	.	.	T	0.11110	0.0271	N	0.08118	0	0.09310	N	1	B	0.30068	0.267	B	0.18561	0.022	T	0.28235	-1.0050	9	0.08599	T	0.76	.	7.1377	0.25537	1.0E-4:0.0:0.9999:0.0	.	41	Q8N1N5	CRPAK_HUMAN	A	41;34	ENSP00000323978:G41A	ENSP00000323978:G41A	G	+	2	0	CRIPAK	1378421	0.029000	0.19370	0.003000	0.11579	0.005000	0.04900	1.354000	0.34056	0.629000	0.30376	0.413000	0.27773	GGA		0.652	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		19	240	0	0	0	1	0	19	240					C	1388421	G	C	1388421	3	2	468	1	0	0	0	0	1	0	0	0	3877	1174	41	4	124	4	CRIPAK	4	1388421	Missense_Mutation	SNP	G	TCGA-J8-A3YD-01A-11D-A22Z-08		1388421	189765855	4	9588											
ERCC8	1161	broad.mit.edu	37	chr5	60170512	60170513	+	Splice_Site	INS	-	-	A													ttgtgattttgttgtagtctINSaaaaaaaaaaaagataaaga							TCGA-J8-A3YD-01A-11D-A22Z-08	TCGA-J8-A3YD-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bafc6f-f6e5-4c20-a95b-6c876f6ade10	073b36fb-8de3-49fd-90aa-fadc538d6809	g.chr5:60170512_60170513insA	ENST00000265038.5	-	12	1165		c.e12-2		ERCC8_ENST00000426742.2_Splice_Site|ERCC8_ENST00000462279.1_Splice_Site|ERCC8_ENST00000543101.1_Splice_Site	NM_000082.3	NP_000073.1	Q13216	ERCC8_HUMAN	excision repair cross-complementation group 8						cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|positive regulation of DNA repair (GO:0045739)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|response to X-ray (GO:0010165)|transcription-coupled nucleotide-excision repair (GO:0006283)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|protein complex (GO:0043234)	protein complex binding (GO:0032403)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				TGTTGTAGTCTAAAAAAAAAAA	0.302																																						ENST00000426742.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						c.e13-2		excision repair cross-complementing rodent repair deficiency, complementation group 8																																				SO:0001630	splice_region_variant	1161				positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|transcription-coupled nucleotide-excision repair	Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction	protein binding|protein complex binding	g.chr5:60170512_60170513insA	U28413	CCDS3978.1	5q12.1	2014-09-17	2014-03-07		ENSG00000049167	ENSG00000049167		"WD repeat domain containing"	3439	protein-coding gene	gene with protein product		609412	"Cockayne syndrome 1 (classical)", "excision repair cross-complementing rodent repair deficiency, complementation group 8"	CKN1		8596535	Standard	NM_000082		Approved	CSA	uc003jsm.3	Q13216	OTTHUMG00000097741	ENST00000265038.5:c.1123-2->T	5.37:g.60170523_60170523dupA						ERCC8_ENST00000265038.5_Splice_Site|ERCC8_ENST00000462279.1_Splice_Site|ERCC8_ENST00000543101.1_Splice_Site				Q13216	ERCC8_HUMAN			13	1383	-		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)						B2RB64|Q6FHX5|Q96GB9	Splice_Site	INS	ENST00000265038.5	37		CCDS3978.1																																																																																				0.302	ERCC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214971.2	NM_000082	Intron	3	5						3	5	---	---	---	---	A	60170513	-	A	60170512	8	5	468	1	0	1	1	0	0	0	1	0	5219	1536	53	0	73	0	ERCC8	5	60170512	Splice_Site	INS	-	TCGA-J8-A3YD-01A-11D-A22Z-08		60170512	120744748	5	9589											
C6orf15	29113	broad.mit.edu	37	chr6	31079260	31079260	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccaggaggaaatgggttattGatacctgggtatagatgaat	13	4	0	3			TCGA-J8-A3YD-01A-11D-A22Z-08	TCGA-J8-A3YD-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bafc6f-f6e5-4c20-a95b-6c876f6ade10	073b36fb-8de3-49fd-90aa-fadc538d6809	g.chr6:31079260G>T	ENST00000259870.3	-	2	879	c.876C>A	c.(874-876)atC>atA	p.I292I		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	292	Pro-rich.				extracellular matrix organization (GO:0030198)	interstitial matrix (GO:0005614)	heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						ATGGGTTATTGATACCTGGGT	0.532																																						ENST00000259870.3																			0				endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						c.(874-876)atC>atA		chromosome 6 open reading frame 15							53	55	54					6																	31079260		1779	3526	5305	SO:0001819	synonymous_variant	29113							g.chr6:31079260G>T	AB031481	CCDS4693.1	6p21	2011-12-12			ENSG00000204542	ENSG00000204542			13927	protein-coding gene	gene with protein product		611401					Standard	NM_014070		Approved	STG	uc003nsk.1	Q6UXA7	OTTHUMG00000031111	ENST00000259870.3:c.876C>A	6.37:g.31079260G>T							p.I292I	NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN			2	879	-			292			Pro-rich.		B0S7V8|Q0EFA6|Q2L6G7|Q5SQ81|Q86Z05|Q9UIG3	Silent	SNP	ENST00000259870.3	37	c.876C>A	CCDS4693.1																																																																																				0.532	C6orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076184.2	NM_014070		5	38	1	0	0.00116845	1	0.00116845	5	38					T	31079260	G	T	31079260	2	4	468	1	0	0	0	0	0	0	0	1	2336	1280	45	4		4	C6orf15	6	31079260	Silent	SNP	G	TCGA-J8-A3YD-01A-11D-A22Z-08		31079260	140035807	6	9590											
NOTCH4	4855	broad.mit.edu	37	chr6	32170100	32170100	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttggctccgggtttctgacAccggggccctggagagctgt	15	12	1	2			TCGA-J8-A3YD-01A-11D-A22Z-08	TCGA-J8-A3YD-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bafc6f-f6e5-4c20-a95b-6c876f6ade10	073b36fb-8de3-49fd-90aa-fadc538d6809	g.chr6:32170100A>G	ENST00000375023.3	-	21	3646	c.3508T>C	c.(3508-3510)Tgt>Cgt	p.C1170R		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1170	EGF-like 29. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGTTTCTGACACCGGGGCCCT	0.652																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(3508-3510)Tgt>Cgt		notch 4							19	22	21					6																	32170100		1509	2707	4216	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32170100A>G		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.3508T>C	6.37:g.32170100A>G	ENSP00000364163:p.Cys1170Arg						p.C1170R	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			21	3646	-			1170			EGF-like 29.		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.3508T>C	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	A	17.55	3.416553	0.62511	.	.	ENSG00000204301	ENST00000375023	D	0.99834	-7.04	4.77	4.77	0.60923	Notch domain (3);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.49305	D	0.000153	D	0.99732	0.9895	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97587	1.0114	10	0.87932	D	0	.	6.9986	0.24797	0.8999:0.0:0.1001:0.0	.	1170	Q99466	NOTC4_HUMAN	R	1170	ENSP00000364163:C1170R	ENSP00000364163:C1170R	C	-	1	0	NOTCH4	32278078	0.995000	0.38212	1.000000	0.80357	0.874000	0.50279	3.694000	0.54742	2.008000	0.58898	0.459000	0.35465	TGT		0.652	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			7	39	0	0	0	1	0	7	39					G	32170100	A	G	32170100	3	3	468	1	0	0	0	0	1	0	0	0	10551	159	6	3	2543	3	NOTCH4	6	32170100	Missense_Mutation	SNP	A	TCGA-J8-A3YD-01A-11D-A22Z-08	1090840	32170100	138944967	7	9591											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-J8-A3YD-01A-11D-A22Z-08	TCGA-J8-A3YD-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bafc6f-f6e5-4c20-a95b-6c876f6ade10	073b36fb-8de3-49fd-90aa-fadc538d6809	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		7	32	0	0	0	1	0	7	32					T	140453136	A	T	140453136	3	4	468	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-J8-A3YD-01A-11D-A22Z-08		140453136	18685527	8	9592											
RNF139	11236	broad.mit.edu	37	chr8	125487437	125487437	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtggcgctccgggtgccCtgcctttacatcatcgacgc	12	14	1	0			TCGA-J8-A3YD-01A-11D-A22Z-08	TCGA-J8-A3YD-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bafc6f-f6e5-4c20-a95b-6c876f6ade10	073b36fb-8de3-49fd-90aa-fadc538d6809	g.chr8:125487437C>T	ENST00000303545.3	+	1	459	c.87C>T	c.(85-87)ccC>ccT	p.P29P	RNF139-AS1_ENST00000499418.2_lincRNA	NM_007218.3	NP_009149.2			ring finger protein 139											breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TCCGGGTGCCCTGCCTTTACA	0.647																																						ENST00000303545.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20						c.(85-87)ccC>ccT		ring finger protein 139							63	66	65					8																	125487437		2203	4300	6503	SO:0001819	synonymous_variant	11236				negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr8:125487437C>T	AF064801	CCDS6350.1	8q24	2013-01-09			ENSG00000170881	ENSG00000170881		"RING-type (C3HC4) zinc fingers"	17023	protein-coding gene	gene with protein product		603046				9689122	Standard	NM_007218		Approved	TRC8, RCA1, HRCA1	uc003yrc.3	Q8WU17	OTTHUMG00000165072	ENST00000303545.3:c.87C>T	8.37:g.125487437C>T							p.P29P	NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		1	459	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		29						Silent	SNP	ENST00000303545.3	37	c.87C>T	CCDS6350.1																																																																																				0.647	RNF139-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381692.1	NM_007218		8	80	0	0	0	1	0	8	80					T	125487437	C	T	125487437	2	4	468	1	0	0	0	0	0	0	0	1	13442	668	24	2		2	RNF139	8	125487437	Silent	SNP	C	TCGA-J8-A3YD-01A-11D-A22Z-08		125487437	20876585	9	9593											
PML	5371	broad.mit.edu	37	chr15	74290656	74290656	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttgagtgcgagcagctcctCtgcgccaagtgcttcgaggc	13	12	1	1			TCGA-J8-A3YD-01A-11D-A22Z-08	TCGA-J8-A3YD-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bafc6f-f6e5-4c20-a95b-6c876f6ade10	073b36fb-8de3-49fd-90aa-fadc538d6809	g.chr15:74290656C>T	ENST00000268058.3	+	2	537	c.441C>T	c.(439-441)ctC>ctT	p.L147L	PML_ENST00000395135.3_Silent_p.L147L|PML_ENST00000569477.1_Silent_p.L147L|PML_ENST00000435786.2_Silent_p.L147L|PML_ENST00000436891.3_Silent_p.L147L|PML_ENST00000569965.1_Silent_p.L147L|PML_ENST00000395132.2_Silent_p.L147L|PML_ENST00000268059.6_Silent_p.L147L|PML_ENST00000354026.6_Silent_p.L147L|PML_ENST00000563500.1_Silent_p.L147L|PML_ENST00000359928.4_Silent_p.L147L|PML_ENST00000564428.1_Silent_p.L147L|PML_ENST00000565898.1_Silent_p.L147L|PML_ENST00000567543.1_Silent_p.L147L	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	147					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						AGCAGCTCCTCTGCGCCAAGT	0.642			T	"RARA, PAX5"	"APL, ALL"																																	ENST00000565898.1				Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	"RARA, PAX5"		"APL, ALL"		0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						c.(439-441)ctC>ctT		promyelocytic leukemia							41	39	39					15																	74290656		2198	4297	6495	SO:0001819	synonymous_variant	5371				cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr15:74290656C>T	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.441C>T	15.37:g.74290656C>T						PML_ENST00000354026.6_Silent_p.L147L|PML_ENST00000359928.4_Silent_p.L147L|PML_ENST00000268058.3_Silent_p.L147L|PML_ENST00000569965.1_Silent_p.L147L|PML_ENST00000567543.1_Silent_p.L147L|PML_ENST00000564428.1_Silent_p.L147L|PML_ENST00000569477.1_Silent_p.L147L|PML_ENST00000563500.1_Silent_p.L147L|PML_ENST00000268059.6_Silent_p.L147L|PML_ENST00000435786.2_Silent_p.L147L|PML_ENST00000436891.3_Silent_p.L147L|PML_ENST00000395132.2_Silent_p.L147L|PML_ENST00000395135.3_Silent_p.L147L	p.L147L			P29590	PML_HUMAN			2	525	+			147					E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Silent	SNP	ENST00000268058.3	37	c.441C>T	CCDS10255.1																																																																																				0.642	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		5	25	0	0	0	1	0	5	25					T	74290656	C	T	74290656	2	4	468	1	0	0	0	0	0	0	0	1	12135	900	32	2		2	PML	15	74290656	Silent	SNP	C	TCGA-J8-A3YD-01A-11D-A22Z-08		74290656	28240736	10	9594											
PCSK6	5046	broad.mit.edu	37	chr15	101872153	101872153	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgagagctccagcatccGcgagcgggactgatgggcac	16	12	0	2			TCGA-J8-A3YD-01A-11D-A22Z-08	TCGA-J8-A3YD-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bafc6f-f6e5-4c20-a95b-6c876f6ade10	073b36fb-8de3-49fd-90aa-fadc538d6809	g.chr15:101872153G>A	ENST00000348070.1	-	15	1938	c.1939C>T	c.(1939-1941)Cgg>Tgg	p.R647W	PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Missense_Mutation_p.R647W|RP11-299G20.3_ENST00000558696.1_RNA	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	648					determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCCAGCATCCGCGAGCGGGAC	0.572																																						ENST00000348070.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1939-1941)Cgg>Tgg		proprotein convertase subtilisin/kexin type 6							51	54	53					15																	101872153		2019	4185	6204	SO:0001583	missense	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101872153G>A		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"subtilisin-like protease", "subtilisin-like proprotein convertase 4", "subtilisin/kexin-like protease PACE4"	167405	"paired basic amino acid cleaving system 4"	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.1939C>T	15.37:g.101872153G>A	ENSP00000305056:p.Arg647Trp					PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Missense_Mutation_p.R647W	p.R647W	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		15	1938	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		648					Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	ENST00000348070.1	37	c.1939C>T		.	.	.	.	.	.	.	.	.	.	G	17.67	3.447596	0.63178	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185	T;T	0.66460	-0.2;-0.21	5.82	2.06	0.26882	.	0.117371	0.53938	D	0.000046	T	0.77039	0.4072	L	0.60455	1.87	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;0.999	D;P;D;D;D	0.85130	0.953;0.723;0.997;0.978;0.929	T	0.77197	-0.2676	10	0.62326	D	0.03	-29.7727	13.464	0.61243	0.0:0.0:0.3148:0.6852	.	648;479;648;648;647	P29122;Q59H04;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.	W	647;647;478	ENSP00000305056:R647W;ENSP00000351193:R647W	ENSP00000305056:R647W	R	-	1	2	PCSK6	99689676	0.882000	0.30256	0.316000	0.25252	0.878000	0.50629	1.232000	0.32636	0.326000	0.23384	0.650000	0.86243	CGG		0.572	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570		5	24	0	0	0	1	0	5	24					A	101872153	G	A	101872153	3	1	468	1	0	0	0	0	1	0	0	0	11604	1086	38	1	1232	1	PCSK6	15	101872153	Missense_Mutation	SNP	G	TCGA-J8-A3YD-01A-11D-A22Z-08	27581497	101872153	659239	11	9595											
CCDC155	147872	broad.mit.edu	37	chr19	49897820	49897820	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caactccacgttcgaagcttGtgaccctcagaggacaggtg	11	12	1	2			TCGA-J8-A3YD-01A-11D-A22Z-08	TCGA-J8-A3YD-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bafc6f-f6e5-4c20-a95b-6c876f6ade10	073b36fb-8de3-49fd-90aa-fadc538d6809	g.chr19:49897820G>C	ENST00000447857.3	+	3	336	c.131G>C	c.(130-132)tGt>tCt	p.C44S		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	44						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						TTCGAAGCTTGTGACCCTCAG	0.627																																						ENST00000447857.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						c.(130-132)tGt>tCt		coiled-coil domain containing 155							74	76	75					19																	49897820		2076	4210	6286	SO:0001583	missense	147872					integral to membrane	calcium ion binding	g.chr19:49897820G>C		CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.131G>C	19.37:g.49897820G>C	ENSP00000404220:p.Cys44Ser						p.C44S	NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN			3	336	+			44					Q96MC3	Missense_Mutation	SNP	ENST00000447857.3	37	c.131G>C	CCDS46140.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.695797	0.68386	.	.	ENSG00000161609	ENST00000447857	T	0.62788	0.0	4.96	4.96	0.65561	EF-hand-like domain (1);	0.251896	0.32935	N	0.005466	T	0.78534	0.4298	M	0.77616	2.38	0.36926	D	0.891651	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.994;0.994	D	0.84197	0.0448	10	0.87932	D	0	-12.6463	14.0553	0.64764	0.0:0.0:1.0:0.0	.	44;44;124	C9JGW3;Q8N6L0;Q6ZRK4	.;CC155_HUMAN;.	S	44	ENSP00000404220:C44S	ENSP00000404220:C44S	C	+	2	0	CCDC155	54589632	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	4.746000	0.62133	2.465000	0.83290	0.462000	0.41574	TGT		0.627	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465436.2	NM_144688		3	73	0	0	0	1	0	3	73					C	49897820	G	C	49897820	3	2	468	1	0	0	0	0	1	0	0	0	2788	1377	48	4	137	4	CCDC155	19	49897820	Missense_Mutation	SNP	G	TCGA-J8-A3YD-01A-11D-A22Z-08		49897820	9231163	12	9596											
JPH2	57158	broad.mit.edu	37	chr20	42747203	42747203	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgagcaatgttggactcCtggttggcagccagggcggc	17	10	0	0			TCGA-J8-A3YD-01A-11D-A22Z-08	TCGA-J8-A3YD-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bafc6f-f6e5-4c20-a95b-6c876f6ade10	073b36fb-8de3-49fd-90aa-fadc538d6809	g.chr20:42747203C>G	ENST00000372980.3	-	3	2102	c.1230G>C	c.(1228-1230)caG>caC	p.Q410H		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	410					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TGTTGGACTCCTGGTTGGCAG	0.617																																						ENST00000372980.3																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(1228-1230)caG>caC		junctophilin 2							100	102	101					20																	42747203		2203	4300	6503	SO:0001583	missense	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42747203C>G	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.1230G>C	20.37:g.42747203C>G	ENSP00000362071:p.Gln410His						p.Q410H	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		3	2102	-		Myeloproliferative disorder(115;0.0122)	410					E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	ENST00000372980.3	37	c.1230G>C	CCDS13325.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133497	0.37630	.	.	ENSG00000149596	ENST00000372980	T	0.61627	0.09	4.78	-2.33	0.06724	.	0.312106	0.32055	N	0.006655	T	0.37839	0.1018	L	0.44542	1.39	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.08868	-1.0701	10	0.49607	T	0.09	.	1.6211	0.02713	0.2847:0.4006:0.1778:0.1369	.	410	Q9BR39	JPH2_HUMAN	H	410	ENSP00000362071:Q410H	ENSP00000362071:Q410H	Q	-	3	2	JPH2	42180617	0.000000	0.05858	0.999000	0.59377	0.948000	0.59901	-2.670000	0.00844	-0.006000	0.14370	0.561000	0.74099	CAG		0.617	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			15	126	0	0	0	1	0	15	126					G	42747203	C	G	42747203	3	3	468	1	0	0	0	0	1	0	0	0	7961	680	24	4	872	4	JPH2	20	42747203	Missense_Mutation	SNP	C	TCGA-J8-A3YD-01A-11D-A22Z-08		42747203	20278317	13	9597											
GDI1	2664	broad.mit.edu	37	chrX	153670074	153670074	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgtatccttagccaccccatCaagaacaccaacgacgccaa	5	16	1	1			TCGA-J8-A3YD-01A-11D-A22Z-08	TCGA-J8-A3YD-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bafc6f-f6e5-4c20-a95b-6c876f6ade10	073b36fb-8de3-49fd-90aa-fadc538d6809	g.chrX:153670074C>G	ENST00000447750.2	+	8	1259	c.924C>G	c.(922-924)atC>atG	p.I308M	FAM50A_ENST00000393600.3_5'Flank	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	308					negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)	p.I308M(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCACCCCATCAAGAACACCA	0.582																																						ENST00000447750.2																			1	Substitution - Missense(1)	p.I308M(1)	cervix(1)	autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16						c.(922-924)atC>atG		GDP dissociation inhibitor 1							170	141	151					X																	153670074		2203	4300	6503	SO:0001583	missense	2664				protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding	g.chrX:153670074C>G	X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"mental retardation, X-linked 41", "mental retardation, X-linked 48", "rab GDP-dissociation inhibitor, alpha"	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.924C>G	X.37:g.153670074C>G	ENSP00000394071:p.Ile308Met						p.I308M	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN			8	1259	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		308					P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Missense_Mutation	SNP	ENST00000447750.2	37	c.924C>G	CCDS35452.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039183	0.75617	.	.	ENSG00000203879	ENST00000447750;ENST00000369741	T	0.61627	0.09	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.79851	0.4517	M	0.93197	3.39	0.80722	D	1	D	0.63880	0.993	D	0.77557	0.99	D	0.83770	0.0219	10	0.87932	D	0	-29.2349	9.2646	0.37634	0.0:0.9003:0.0:0.0997	.	308	P31150	GDIA_HUMAN	M	308;292	ENSP00000394071:I308M	ENSP00000358756:I292M	I	+	3	3	GDI1	153323268	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.081000	0.57627	2.272000	0.75746	0.529000	0.55759	ATC		0.582	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081649.2	NM_001493		11	96	0	0	0	1	0	11	96					G	153670074	C	G	153670074	3	3	468	1	0	0	0	0	1	0	0	0	6320	816	29	4	954	4	GDI1	23	153670074	Missense_Mutation	SNP	C	TCGA-J8-A3YD-01A-11D-A22Z-08		153670074	1600486	14	9598											
CASZ1	54897	broad.mit.edu	37	chr1	10714637	10714637	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacgtgctcgtgtacaccttGttacagcccacctgcacagg	10	14	0	0			TCGA-J8-A3YE-01A-12D-A23M-08	TCGA-J8-A3YE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e53c7649-f665-435b-84b1-c5c7c7ebdabd	e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3	g.chr1:10714637G>T	ENST00000377022.3	-	10	1994	c.1677C>A	c.(1675-1677)aaC>aaA	p.N559K	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Missense_Mutation_p.N559K	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	559					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TGTACACCTTGTTACAGCCCA	0.607																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(1675-1677)aaC>aaA		castor zinc finger 1							199	183	189					1																	10714637		2203	4300	6503	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10714637G>T	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1677C>A	1.37:g.10714637G>T	ENSP00000366221:p.Asn559Lys					CASZ1_ENST00000344008.5_Missense_Mutation_p.N559K	p.N559K	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	10	1994	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	559					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.1677C>A	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.963700	0.92791	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.97	4.97	0.65823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.085777	0.85682	D	0.000000	T	0.53222	0.1783	N	0.12182	0.205	0.50467	D	0.999872	D;D;D	0.69078	0.967;0.962;0.997	P;P;D	0.81914	0.74;0.63;0.995	T	0.58233	-0.7672	9	0.54805	T	0.06	-45.6206	12.0439	0.53469	0.0793:0.0:0.9207:0.0	.	583;559;559	B7Z1S3;Q86V15-2;Q86V15	.;.;CASZ1_HUMAN	K	559	.	ENSP00000339445:N559K	N	-	3	2	CASZ1	10637224	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.449000	0.66619	2.478000	0.83669	0.561000	0.74099	AAC		0.607	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		12	190	1	0	0.00136819	1	0.00143335	12	190					T	10714637	G	T	10714637	3	4	469	1	0	0	0	0	1	0	0	0	2685	1368	48	4	3654	4	CASZ1	1	10714637	Missense_Mutation	SNP	G	TCGA-J8-A3YE-01A-12D-A23M-08		10714637	238535984	1	9599											
SPTA1	6708	broad.mit.edu	37	chr1	158646045	158646045	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaggtgcatctgaaggatggGaaagtgtcagcttctctgct	14	7	3	1			TCGA-J8-A3YE-01A-12D-A23M-08	TCGA-J8-A3YE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e53c7649-f665-435b-84b1-c5c7c7ebdabd	e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3	g.chr1:158646045G>A	ENST00000368147.4	-	8	1178	c.998C>T	c.(997-999)tCc>tTc	p.S333F		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	333					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGAAGGATGGGAAAGTGTCAG	0.478																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(997-999)tCc>tTc		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							217	204	208					1																	158646045		1924	4142	6066	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158646045G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.998C>T	1.37:g.158646045G>A	ENSP00000357129:p.Ser333Phe					SPTA1_ENST00000368147.3_Missense_Mutation_p.S333F	p.S333F	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			8	1178	-	all_hematologic(112;0.0378)		333					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.998C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141830	0.57044	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.53857	0.6;0.6	5.24	4.33	0.51752	.	0.000000	0.31554	N	0.007457	T	0.49064	0.1535	M	0.81802	2.56	0.41251	D	0.986717	P	0.36660	0.564	B	0.42361	0.385	T	0.58891	-0.7556	10	0.62326	D	0.03	.	12.7525	0.57316	0.0792:0.0:0.9208:0.0	.	333	P02549	SPTA1_HUMAN	F	333	ENSP00000357130:S333F;ENSP00000357129:S333F	ENSP00000357129:S333F	S	-	2	0	SPTA1	156912669	1.000000	0.71417	0.162000	0.22713	0.780000	0.44128	6.567000	0.73983	1.435000	0.47434	0.655000	0.94253	TCC		0.478	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		108	161	0	0	0	1	0	108	161					A	158646045	G	A	158646045	3	1	469	1	0	0	0	0	1	0	0	0	15115	1174	41	2	6441	2	SPTA1	1	158646045	Missense_Mutation	SNP	G	TCGA-J8-A3YE-01A-12D-A23M-08	147931408	158646045	90604576	2	9600											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-J8-A3YE-01A-12D-A23M-08	TCGA-J8-A3YE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e53c7649-f665-435b-84b1-c5c7c7ebdabd	e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		36	51	0	0	0	1	0	36	51					T	140453136	A	T	140453136	3	4	469	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-J8-A3YE-01A-12D-A23M-08		140453136	18685527	3	9601											
EFR3A	23167	broad.mit.edu	37	chr8	132999878	132999878	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtactttctgaccaacaagaTtgcagagtcgctaggtggaa	11	8	1	3			TCGA-J8-A3YE-01A-12D-A23M-08	TCGA-J8-A3YE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e53c7649-f665-435b-84b1-c5c7c7ebdabd	e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3	g.chr8:132999878T>C	ENST00000254624.5	+	18	2219	c.1994T>C	c.(1993-1995)aTt>aCt	p.I665T	EFR3A_ENST00000334503.4_Missense_Mutation_p.I665T|EFR3A_ENST00000519656.1_Missense_Mutation_p.I629T	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	665						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			ACCAACAAGATTGCAGAGTCG	0.368																																						ENST00000254624.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35						c.(1993-1995)aTt>aCt		EFR3 homolog A (S. cerevisiae)							97	80	86					8																	132999878		2201	4299	6500	SO:0001583	missense	23167					plasma membrane	binding	g.chr8:132999878T>C	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.1994T>C	8.37:g.132999878T>C	ENSP00000254624:p.Ile665Thr					EFR3A_ENST00000334503.4_Missense_Mutation_p.I665T|EFR3A_ENST00000519656.1_Missense_Mutation_p.I629T	p.I665T	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		18	2219	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		665					A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Missense_Mutation	SNP	ENST00000254624.5	37	c.1994T>C	CCDS34942.2	.	.	.	.	.	.	.	.	.	.	T	17.79	3.475141	0.63737	.	.	ENSG00000132294	ENST00000254624;ENST00000407309;ENST00000377917;ENST00000334503;ENST00000519656	T;T;T	0.39787	1.06;1.06;1.06	6.07	6.07	0.98685	.	0.127823	0.64402	D	0.000001	T	0.61135	0.2323	M	0.67397	2.05	0.58432	D	0.999997	D	0.58620	0.983	P	0.61800	0.894	T	0.64118	-0.6482	10	0.87932	D	0	-27.8165	15.8218	0.78654	0.0:0.0:0.0:1.0	.	665	Q14156	EFR3A_HUMAN	T	665;44;621;665;629	ENSP00000254624:I665T;ENSP00000334769:I665T;ENSP00000428086:I629T	ENSP00000254624:I665T	I	+	2	0	EFR3A	133069060	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.407000	0.80029	2.326000	0.78906	0.533000	0.62120	ATT		0.368	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		5	5	0	0	0	1	0	5	5					C	132999878	T	C	132999878	3	2	469	1	0	0	0	0	1	0	0	0	4958	1493	52	3	2064	3	EFR3A	8	132999878	Missense_Mutation	SNP	T	TCGA-J8-A3YE-01A-12D-A23M-08		132999878	13364144	4	9602											
KIAA1432	57589	broad.mit.edu	37	chr9	5720735	5720735	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttattacaccagtgtcaagTagatttactgcagaggtatg	9	6	1	2			TCGA-J8-A3YE-01A-12D-A23M-08	TCGA-J8-A3YE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e53c7649-f665-435b-84b1-c5c7c7ebdabd	e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3	g.chr9:5720735T>C	ENST00000414202.2	+	6	896	c.705T>C	c.(703-705)agT>agC	p.S235S	KIAA1432_ENST00000251879.6_Silent_p.S235S|KIAA1432_ENST00000449720.2_Silent_p.S156S|RP11-207C16.4_ENST00000426764.1_RNA|KIAA1432_ENST00000418622.3_Silent_p.S156S|KIAA1432_ENST00000381532.2_Silent_p.S156S	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CAGTGTCAAGTAGATTTACTG	0.328																																						ENST00000414202.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45						c.(703-705)agT>agC		KIAA1432							203	202	202					9																	5720735		2203	4300	6503	SO:0001819	synonymous_variant	57589					integral to membrane		g.chr9:5720735T>C																												ENST00000414202.2:c.705T>C	9.37:g.5720735T>C						KIAA1432_ENST00000449720.2_Silent_p.S156S|KIAA1432_ENST00000251879.6_Silent_p.S235S|KIAA1432_ENST00000418622.3_Silent_p.S156S|KIAA1432_ENST00000381532.2_Silent_p.S156S	p.S235S	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	6	896	+		Acute lymphoblastic leukemia(23;0.154)	235						Silent	SNP	ENST00000414202.2	37	c.705T>C	CCDS34982.2	.	.	.	.	.	.	.	.	.	.	T	9.616	1.132527	0.21041	.	.	ENSG00000107036	ENST00000545641	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.0105	15.5305	0.75956	0.0:0.0:0.0:1.0	.	.	.	.	Q	164	.	.	X	+	1	0	KIAA1432	5710735	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.613000	0.36900	2.117000	0.64856	0.460000	0.39030	TAG		0.328	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			73	98	0	0	0	1	0	73	98					C	5720735	T	C	5720735	2	2	469	1	0	0	0	0	0	0	0	1	8233	1635	57	3		3	KIAA1432	9	5720735	Silent	SNP	T	TCGA-J8-A3YE-01A-12D-A23M-08		5720735	135492696	5	9603											
KDM2A	22992	broad.mit.edu	37	chr11	66983353	66983353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctaatgagtgttcgaggctGctatactgacttccatgtgg	11	8	1	2			TCGA-J8-A3YE-01A-12D-A23M-08	TCGA-J8-A3YE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e53c7649-f665-435b-84b1-c5c7c7ebdabd	e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3	g.chr11:66983353G>A	ENST00000529006.2	+	8	1066	c.620G>A	c.(619-621)tGc>tAc	p.C207Y	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Missense_Mutation_p.C207Y	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	207	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						GTTCGAGGCTGCTATACTGAC	0.448																																						ENST00000529006.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						c.(619-621)tGc>tAc		lysine (K)-specific demethylase 2A							380	356	364					11																	66983353		1971	4161	6132	SO:0001583	missense	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:66983353G>A	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13606	protein-coding gene	gene with protein product	"F-box protein FBL11", "jumonji C domain-containing histone demethylase 1A"	605657	"F-box and leucine-rich repeat protein 11"	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.620G>A	11.37:g.66983353G>A	ENSP00000432786:p.Cys207Tyr					KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Missense_Mutation_p.C207Y	p.C207Y	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN			8	1066	+			207			JmjC.		D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	ENST00000529006.2	37	c.620G>A	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033034	0.93575	.	.	ENSG00000173120	ENST00000398645;ENST00000529006	T;T	0.73152	-0.72;-0.72	5.69	5.69	0.88448	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	D	0.88051	0.6333	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90107	0.4189	10	0.87932	D	0	-6.8007	18.8026	0.92023	0.0:0.0:1.0:0.0	.	207	Q9Y2K7	KDM2A_HUMAN	Y	207	ENSP00000381640:C207Y;ENSP00000432786:C207Y	ENSP00000381640:C207Y	C	+	2	0	KDM2A	66739929	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.439000	0.97543	2.691000	0.91804	0.655000	0.94253	TGC		0.448	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		10	237	0	0	0	1	0	10	237					A	66983353	G	A	66983353	3	1	469	1	0	0	0	0	1	0	0	0	8124	1319	46	2	646	2	KDM2A	11	66983353	Missense_Mutation	SNP	G	TCGA-J8-A3YE-01A-12D-A23M-08		66983353	68023163	6	9604											
ATM	472	broad.mit.edu	37	chr11	108196147	108196147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctatcatggctctacgcaCagtcattttggagatcctga	9	11	3	2			TCGA-J8-A3YE-01A-12D-A23M-08	TCGA-J8-A3YE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e53c7649-f665-435b-84b1-c5c7c7ebdabd	e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3	g.chr11:108196147C>T	ENST00000452508.2	+	47	6872	c.6683C>T	c.(6682-6684)aCa>aTa	p.T2228I	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.T2228I			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2228	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GCTCTACGCACAGTCATTTTG	0.403			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(6682-6684)aCa>aTa	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							142	139	140					11																	108196147		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108196147C>T	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.6683C>T	11.37:g.108196147C>T	ENSP00000388058:p.Thr2228Ile	TSP Lung(14;0.12)				C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.T2228I	p.T2228I	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	46	7068	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2228			FAT.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.6683C>T	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446678	0.63178	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.69806	-0.43;-0.43	5.03	5.03	0.67393	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-type fold (1);	0.099426	0.64402	D	0.000001	T	0.74703	0.3751	L	0.54323	1.7	0.80722	D	1	P	0.50369	0.934	P	0.55923	0.787	T	0.71862	-0.4464	10	0.31617	T	0.26	.	18.7331	0.91742	0.0:1.0:0.0:0.0	.	2228	Q13315	ATM_HUMAN	I	2228	ENSP00000278616:T2228I;ENSP00000388058:T2228I	ENSP00000278616:T2228I	T	+	2	0	ATM	107701357	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.122000	0.77169	2.505000	0.84491	0.655000	0.94253	ACA		0.403	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		53	81	0	0	0	1	0	53	81					T	108196147	C	T	108196147	3	4	469	1	0	0	0	0	1	0	0	0	1109	478	17	2	6861	2	ATM	11	108196147	Missense_Mutation	SNP	C	TCGA-J8-A3YE-01A-12D-A23M-08	41212794	108196147	26810369	7	9605											
ADSSL1	122622	broad.mit.edu	37	chr14	105211154	105211154	+	Frame_Shift_Del	DEL	C	C	-													cttggctttccacaggctggCcctgacgaagctggacatcc					rs369513600		TCGA-J8-A3YE-01A-12D-A23M-08	TCGA-J8-A3YE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e53c7649-f665-435b-84b1-c5c7c7ebdabd	e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3	g.chr14:105211154delC	ENST00000330877.2	+	11	1164	c.1079delC	c.(1078-1080)gccfs	p.A360fs	ADSSL1_ENST00000332972.5_Frame_Shift_Del_p.A403fs|ADSSL1_ENST00000554657.1_3'UTR|ADSSL1_ENST00000556623.1_5'Flank|ADSSL1_ENST00000555674.1_5'Flank	NM_152328.3	NP_689541.1			adenylosuccinate synthase like 1											central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		CACAGGCTGGCCCTGACGAAG	0.532																																						ENST00000332972.5																			0				central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11						c.(1207-1209)gcfs		adenylosuccinate synthase like 1	L-Aspartic Acid(DB00128)						77	74	75					14																	105211154		2203	4300	6503	SO:0001589	frameshift_variant	122622				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	g.chr14:105211154delC	AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000330877.2:c.1079delC	14.37:g.105211154delC	ENSP00000331260:p.Ala360fs					ADSSL1_ENST00000330877.2_Frame_Shift_Del_p.A360fs|ADSSL1_ENST00000554657.1_3'UTR	p.A403fs	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	11	1367	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	360						Frame_Shift_Del	DEL	ENST00000330877.2	37	c.1208delC	CCDS9990.1																																																																																				0.532	ADSSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410529.1			27	46						27	46	---	---	---	---	-	105211154	C	-	105211154	7	5	469	1	0	1	0	1	0	0	0	0	348	739	26	0	1446	0	ADSSL1	14	105211154	Frame_Shift_Del	DEL	C	TCGA-J8-A3YE-01A-12D-A23M-08		105211154	2138386	8	9606											
IGF1R	3480	broad.mit.edu	37	chr15	99500579	99500579	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggtgctggtcctccgcGccagcttcgacgagagacag	15	13	0	1	rs34102392		TCGA-J8-A3YE-01A-12D-A23M-08	TCGA-J8-A3YE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e53c7649-f665-435b-84b1-c5c7c7ebdabd	e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3	g.chr15:99500579G>A	ENST00000268035.6	+	21	4623	c.4012G>A	c.(4012-4014)Gcc>Acc	p.A1338T	IGF1R_ENST00000558762.1_Missense_Mutation_p.A1337T|RP11-654A16.3_ENST00000559468.1_RNA	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1338			A -> T (in dbSNP:rs34102392). {ECO:0000269|PubMed:17344846}.		axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	GGTCCTCCGCGCCAGCTTCGA	0.682																																						ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(4012-4014)Gcc>Acc		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	G	THR/ALA	1,4393	2.1+/-5.4	0,1,2196	33	38	37		4012	5.7	1.0	15	dbSNP_126	37	0,8594		0,0,4297	no	missense	IGF1R	NM_000875.3	58	0,1,6493	AA,AG,GG		0.0,0.0228,0.0077	benign	1338/1368	99500579	1,12987	2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99500579G>A	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.4012G>A	15.37:g.99500579G>A	ENSP00000268035:p.Ala1338Thr					IGF1R_ENST00000558762.1_Missense_Mutation_p.A1337T|RP11-654A16.3_ENST00000559468.1_RNA	p.A1338T	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		21	4623	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		1338		A -> T (in dbSNP:rs34102392).			B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.4012G>A	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187992	0.57909	2.28E-4	0.0	ENSG00000140443	ENST00000268035	T	0.75477	-0.94	5.67	5.67	0.87782	.	0.000000	0.56097	D	0.000023	T	0.78136	0.4236	L	0.44542	1.39	0.52501	D	0.999957	D;B	0.67145	0.996;0.223	P;B	0.53035	0.716;0.029	T	0.77056	-0.2729	10	0.42905	T	0.14	.	19.7784	0.96405	0.0:0.0:1.0:0.0	rs34102392	1337;1338	C9J5X1;P08069	.;IGF1R_HUMAN	T	1338	ENSP00000268035:A1338T	ENSP00000268035:A1338T	A	+	1	0	IGF1R	97318102	1.000000	0.71417	0.962000	0.40283	0.091000	0.18340	3.937000	0.56575	2.673000	0.90976	0.557000	0.71058	GCC		0.682	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		4	69	0	0	0	1	0	4	69					A	99500579	G	A	99500579	3	1	469	1	0	0	0	0	1	0	0	0	7571	1087	38	1	4094	1	IGF1R	15	99500579	Missense_Mutation	SNP	G	TCGA-J8-A3YE-01A-12D-A23M-08		99500579	3030813	9	9607											
DNAH9	1770	broad.mit.edu	37	chr17	11772507	11772507	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttgagaaagcaacagcagaCaaactcaaatgtcagcaaga	8	8	2	3	rs371827699		TCGA-J8-A3YE-01A-12D-A23M-08	TCGA-J8-A3YE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e53c7649-f665-435b-84b1-c5c7c7ebdabd	e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3	g.chr17:11772507C>A	ENST00000262442.4	+	51	10058	c.9990C>A	c.(9988-9990)gaC>gaA	p.D3330E	DNAH9_ENST00000454412.2_Missense_Mutation_p.D3330E	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3330	Stalk. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAACAGCAGACAAACTCAAAT	0.493																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(9988-9990)gaC>gaA		dynein, axonemal, heavy chain 9							111	100	104					17																	11772507		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11772507C>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.9990C>A	17.37:g.11772507C>A	ENSP00000262442:p.Asp3330Glu					DNAH9_ENST00000454412.2_Missense_Mutation_p.D3330E	p.D3330E	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	51	10058	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3330			Stalk (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.9990C>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	3.819	-0.038070	0.07497	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.75050	-0.9;-0.9	4.54	2.17	0.27698	Dynein heavy chain, coiled coil stalk (1);	0.293992	0.36591	N	0.002511	T	0.39091	0.1065	N	0.01289	-0.905	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46816	-0.9164	10	0.02654	T	1	.	10.837	0.46694	0.1223:0.5609:0.3168:0.0	.	3330	Q9NYC9	DYH9_HUMAN	E	3330;3330;1912	ENSP00000262442:D3330E;ENSP00000414874:D3330E	ENSP00000262442:D3330E	D	+	3	2	DNAH9	11713232	0.294000	0.24380	1.000000	0.80357	0.994000	0.84299	-0.360000	0.07622	1.109000	0.41680	0.643000	0.83706	GAC		0.493	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		6	124	1	0	0.00116845	1	0.00128529	6	124					A	11772507	C	A	11772507	3	1	469	1	0	0	0	0	1	0	0	0	4608	477	17	4	10192	4	DNAH9	17	11772507	Missense_Mutation	SNP	C	TCGA-J8-A3YE-01A-12D-A23M-08		11772507	69422703	10	9608											
ATF5	22809	broad.mit.edu	37	chr19	50435928	50435930	+	In_Frame_Del	DEL	TGT	TGT	-													accagccccctccctcccccTgtccctcccctcctttgacc							TCGA-J8-A3YE-01A-12D-A23M-08	TCGA-J8-A3YE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e53c7649-f665-435b-84b1-c5c7c7ebdabd	e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3	g.chr19:50435928_50435930delTGT	ENST00000423777.2	+	3	805_807	c.428_430delTGT	c.(427-432)ctgtcc>ccc	p.143_144LS>P	NUP62_ENST00000422090.2_5'Flank|MIR4751_ENST00000578027.1_RNA|CTC-326K19.6_ENST00000451973.1_Intron|NUP62_ENST00000352066.3_5'Flank|ATF5_ENST00000595125.1_In_Frame_Del_p.143_144LS>P	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	143	Interaction with PTP4A1. {ECO:0000250}.				multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|olfactory bulb interneuron development (GO:0021891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)|transcription corepressor activity (GO:0003714)			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	Pseudoephedrine(DB00852)	TCCCTCCCCCTGTCCCTCCCCTC	0.65																																					GBM(48;768 989 9196 9511 26329)	ENST00000423777.2																			0				NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7						c.(427-432)ccc>c		activating transcription factor 5																																				SO:0001651	inframe_deletion	22809				regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:50435928_50435930delTGT	AF101388	CCDS12789.1	19q13.33	2013-09-20			ENSG00000169136	ENSG00000169136		"basic leucine zipper proteins"	790	protein-coding gene	gene with protein product		606398				10373550	Standard	NM_012068		Approved		uc002prd.3	Q9Y2D1	OTTHUMG00000183065	ENST00000423777.2:c.428_430delTGT	19.37:g.50435928_50435930delTGT	ENSP00000396954:p.Leu143_Ser144delinsPro					CTC-326K19.6_ENST00000451973.1_Intron|ATF5_ENST00000595125.1_In_Frame_Del_p.LS143del	p.LS143del	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	3	805_807	+		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	143			Interaction with PTP4A1 (By similarity).		B3KND3|Q9BSA1|Q9UNQ3	In_Frame_Del	DEL	ENST00000423777.2	37	c.428_430delTGT	CCDS12789.1																																																																																				0.65	ATF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464915.2			2	4						2	4	---	---	---	---	-	50435930	TGT	-	50435928	7	5	469	1	0	1	0	1	0	0	0	0	1083	1580	55	0	434	0	ATF5	19	50435928	In_Frame_Del	DEL	TGT	TCGA-J8-A3YE-01A-12D-A23M-08		50435928	8693055	11	9609											
CLIC6	54102	broad.mit.edu	37	chr21	36042463	36042492	+	In_Frame_Del	DEL	GCGTAGAAGCGGGGGTCCCGGCGGGGGACA	GCGTAGAAGCGGGGGTCCCGGCGGGGGACA	-													gggggacccggcgggggacgGcgtagaagcgggggtcccgg					rs557556798|rs548102329|rs13049745|rs369616665|rs62213790|rs13048804	byFrequency	TCGA-J8-A3YE-01A-12D-A23M-08	TCGA-J8-A3YE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e53c7649-f665-435b-84b1-c5c7c7ebdabd	e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3	g.chr21:36042463_36042492delGCGTAGAAGCGGGGGTCCCGGCGGGGGACA	ENST00000360731.3	+	1	776_805	c.776_805delGCGTAGAAGCGGGGGTCCCGGCGGGGGACA	c.(775-807)ggcgtagaagcgggggtcccggcgggggacagc>ggc	p.VEAGVPAGDS260del	CLIC6_ENST00000349499.2_In_Frame_Del_p.VEAGVPAGDS260del			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	260	13 X 10 AA tandem repeat of G-D-[SNG]- [VIM]-[DEQ]-A-[EAG]-[GDVE]-[PRG]-[LAVP].					chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)	p.S269G(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						GCGGGGGACGGCGTAGAAGCGGGGGTCCCGGCGGGGGACAGCGTAGAAGC	0.761														964	0.192492	0.1551	0.1599	5008	,	,		8557	0.1835		0.2127	False		,,,				2504	0.2546					ENST00000360731.3																			1	Substitution - Missense(1)	p.S269G(1)	central_nervous_system(1)	breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(775-807)ggc>g		chloride intracellular channel 6				159,961		56,47,457						2.8	0.0		dbSNP_130	2	659,2423		241,177,1123	no	coding	CLIC6	NM_053277.1		297,224,1580	A1A1,A1R,RR		21.3822,14.1964,19.4669				818,3384				SO:0001651	inframe_deletion	54102					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity	g.chr21:36042463_36042492delGCGTAGAAGCGGGGGTCCCGGCGGGGGACA	AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"Ion channels / Chloride channels : Intracellular"	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.776_805delGCGTAGAAGCGGGGGTCCCGGCGGGGGACA	21.37:g.36042463_36042492delGCGTAGAAGCGGGGGTCCCGGCGGGGGACA	ENSP00000353959:p.Val260_Ser269del					CLIC6_ENST00000349499.2_In_Frame_Del_p.GVEAGVPAGDS259del	p.GVEAGVPAGDS259del			Q96NY7	CLIC6_HUMAN			1	776_805	+			259			13 X 10 AA tandem repeat of G-D-[SNG]- [VIM]-[DEQ]-A-[EAG]-[GDVE]-[PRG]-[LAVP].		A8K0U8|Q8IX31	In_Frame_Del	DEL	ENST00000360731.3	37	c.776_805delGCGTAGAAGCGGGGGTCCCGGCGGGGGACA																																																																																					0.761	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1			5	2						5	2	---	---	---	---	-	36042492	GCGTAGAAGCGGGGGTCCCGGCGGGGGACA	-	36042463	7	5	469	1	0	1	0	1	0	0	0	0	3530	1203	42	0	778	0	CLIC6	21	36042463	In_Frame_Del	DEL	GCGTAGAAGCGGGGGTCCCGGCGGGGGACA	TCGA-J8-A3YE-01A-12D-A23M-08		36042463	12087432	12	9610											
ESX1	80712	broad.mit.edu	37	chrX	103495209	103495209	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttggcacaggcgccatgggCggccagggtggcacaggcgc	19	12	0	0	rs184828935		TCGA-J8-A3YE-01A-12D-A23M-08	TCGA-J8-A3YE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e53c7649-f665-435b-84b1-c5c7c7ebdabd	e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3	g.chrX:103495209C>T	ENST00000372588.4	-	4	1004	c.921G>A	c.(919-921)ccG>ccA	p.P307P		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	307	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	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)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GCGCCATGGGCGGCCAGGGTG	0.781													c|||	9	0.00238411	8e-04	0.0014	3775	,	,		6064	0.001		0.006	False		,,,				2504	0				Pancreas(200;1705 2227 25194 28471 45274)	ENST00000372588.4																			0				endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						c.(919-921)ccG>ccA		ESX homeobox 1							5	7	6					X																	103495209		1683	3429	5112	SO:0001819	synonymous_variant	80712				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:103495209C>T	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"Homeoboxes / PRD class"	14865	protein-coding gene	gene with protein product		300154	"extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.921G>A	X.37:g.103495209C>T							p.P307P	NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN			4	1004	-			307			15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.		B0QYU3|Q7Z6K7	Silent	SNP	ENST00000372588.4	37	c.921G>A	CCDS14516.1																																																																																				0.781	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448		3	29	0	0	0	1	0	3	29					T	103495209	C	T	103495209	2	4	469	1	0	0	0	0	0	0	0	1	5263	755	27	1		1	ESX1	23	103495209	Silent	SNP	C	TCGA-J8-A3YE-01A-12D-A23M-08		103495209	51775351	13	9611											
EYA3	2140	broad.mit.edu	37	chr1	28384518	28384518	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tacttactggttgctctggtAaatcttgctcttcttccatg	7	10	4	0			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr1:28384518A>T	ENST00000373871.3	-	2	260	c.20T>A	c.(19-21)tTa>tAa	p.L7*	EYA3_ENST00000545175.1_5'UTR|EYA3_ENST00000373863.3_Nonsense_Mutation_p.L7*|EYA3_ENST00000373864.1_5'UTR|EYA3_ENST00000436342.2_5'UTR|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000540618.1_Nonsense_Mutation_p.L7*	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	EYA transcriptional coactivator and phosphatase 3	7					anatomical structure morphogenesis (GO:0009653)|double-strand break repair (GO:0006302)|histone dephosphorylation (GO:0016576)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of DNA repair (GO:0045739)|regulation of transcription, DNA-templated (GO:0006355)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		TTGCTCTGGTAAATCTTGCTC	0.303																																						ENST00000373871.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15						c.(19-21)tTa>tAa		eyes absent homolog 3 (Drosophila)							121	128	126					1																	28384518		2203	4300	6503	SO:0001587	stop_gained	2140				anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity	g.chr1:28384518A>T	U81602	CCDS316.1, CCDS60050.1, CCDS60051.1, CCDS60052.1	1p36	2014-06-19	2014-06-19		ENSG00000158161	ENSG00000158161		"Protein tyrosine phosphatases / Asp-based PTPs"	3521	protein-coding gene	gene with protein product		601655	"eyes absent (Drosophila) homolog 3", "eyes absent homolog 3 (Drosophila)"			9020840	Standard	NM_001990		Approved	DKFZp686C132	uc001bpi.2	Q99504	OTTHUMG00000003916	ENST00000373871.3:c.20T>A	1.37:g.28384518A>T	ENSP00000362978:p.Leu7*					EYA3_ENST00000545175.1_5'UTR|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000373863.3_Nonsense_Mutation_p.L7*|EYA3_ENST00000373864.1_5'UTR|EYA3_ENST00000540618.1_Nonsense_Mutation_p.L7*|EYA3_ENST00000436342.2_5'UTR	p.L7*			Q99504	EYA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)	2	260	-		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	7					A8K190|B4DIR7|B4DNZ7|O95463|Q8IVX7|Q99813	Nonsense_Mutation	SNP	ENST00000373871.3	37	c.20T>A	CCDS316.1	.	.	.	.	.	.	.	.	.	.	A	38	7.254854	0.98168	.	.	ENSG00000158161	ENST00000373871;ENST00000540618;ENST00000373863	.	.	.	5.5	5.5	0.81552	.	0.353913	0.30320	N	0.009882	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.5013	14.1757	0.65539	1.0:0.0:0.0:0.0	.	.	.	.	X	7	.	ENSP00000362970:L7X	L	-	2	0	EYA3	28257105	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.486000	0.66856	2.078000	0.62432	0.528000	0.53228	TTA		0.303	EYA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011184.1	NM_001990		24	59	0	0	0	1	0	24	59					T	28384518	A	T	28384518	4	4	470	1	0	0	0	0	0	1	0	0	5330	372	13	5	1769	5	EYA3	1	28384518	Nonsense_Mutation	SNP	A	TCGA-J8-A3YF-01A-12D-A23M-08		28384518	220866103	1	9612											
KNCN	148930	broad.mit.edu	37	chr1	47013416	47013416	+	Frame_Shift_Del	DEL	C	C	-													tttgcctcagcattcctcagCcccccgggtccccggcttca							TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr1:47013416delC	ENST00000481882.2	-	4	672	c.361delG	c.(361-363)gctfs	p.A121fs	KNCN_ENST00000524908.1_5'UTR|MKNK1-AS1_ENST00000602433.1_RNA|KNCN_ENST00000396314.3_Frame_Shift_Del_p.A98fs			A6PVL3	KNCN_HUMAN	kinocilin	121						apical plasma membrane (GO:0016324)|ciliary basal body (GO:0036064)|cuticular plate (GO:0032437)|integral component of membrane (GO:0016021)|kinocilium (GO:0060091)|neuronal cell body (GO:0043025)				central_nervous_system(1)|endometrium(1)|lung(1)|ovary(1)	4	Acute lymphoblastic leukemia(166;0.155)					CATTCCTCAGCCCCCCGGGTC	0.672																																						ENST00000481882.2																			0				central_nervous_system(1)|endometrium(1)|lung(1)|ovary(1)	4						c.(361-363)ctfs		kinocilin				10,9,4111		2,0,6,1,7,2049	12	13	12			3.7	0.4	1		12	0,6,8016		0,0,0,0,6,4005	no	codingComplex	KNCN	NM_001097611.1		2,0,6,1,13,6054	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0748,0.46,0.2057			47013416	10,15,12127	2154	4216	6370	SO:0001589	frameshift_variant	148930					integral to membrane		g.chr1:47013416delC	AK056573	CCDS44133.1	1p33	2014-02-12	2006-10-26		ENSG00000162456	ENSG00000162456			26488	protein-coding gene	gene with protein product		611455				15855039	Standard	NM_001097611		Approved	FLJ32011, KINO, L5	uc001cpy.2	A6PVL3	OTTHUMG00000007987	ENST00000481882.2:c.361delG	1.37:g.47013416delC	ENSP00000419705:p.Ala121fs					KNCN_ENST00000396314.3_Frame_Shift_Del_p.A98fs|MKNK1-AS1_ENST00000602433.1_RNA|KNCN_ENST00000524908.1_5'UTR	p.A121fs			A6PVL3	KNCN_HUMAN			4	672	-	Acute lymphoblastic leukemia(166;0.155)		121					A8MXE3	Frame_Shift_Del	DEL	ENST00000481882.2	37	c.361delG																																																																																					0.672	KNCN-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000316334.2	NM_182516		2	4						2	4	---	---	---	---	-	47013416	C	-	47013416	7	5	470	1	0	1	0	1	0	0	0	0	8425	739	26	0	17	0	KNCN	1	47013416	Frame_Shift_Del	DEL	C	TCGA-J8-A3YF-01A-12D-A23M-08	18628898	47013416	202237205	2	9613											
GNPAT	8443	broad.mit.edu	37	chr1	231401763	231401763	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccctgtgttttgcaggtcTtctgaatattgtgatggagc	11	8	2	2			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr1:231401763T>G	ENST00000366647.4	+	7	945	c.776T>G	c.(775-777)cTt>cGt	p.L259R	GNPAT_ENST00000366646.3_Missense_Mutation_p.L198R	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	259					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TTTGCAGGTCTTCTGAATATT	0.343																																						ENST00000366647.4																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23						c.(775-777)cTt>cGt		glyceronephosphate O-acyltransferase							74	74	74					1																	231401763		2202	4298	6500	SO:0001583	missense	8443				ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity	g.chr1:231401763T>G	AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.776T>G	1.37:g.231401763T>G	ENSP00000355607:p.Leu259Arg					GNPAT_ENST00000366646.3_Missense_Mutation_p.L198R	p.L259R	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN			7	945	+	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)	259					B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	ENST00000366647.4	37	c.776T>G	CCDS1592.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.959582	0.74016	.	.	ENSG00000116906	ENST00000436239;ENST00000366647;ENST00000366646;ENST00000416000	D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3	5.6	5.6	0.85130	Phospholipid/glycerol acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.97139	0.9065	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.97940	1.0325	10	0.87932	D	0	.	15.7878	0.78322	0.0:0.0:0.0:1.0	.	198;259	B4DNM9;O15228	.;GNPAT_HUMAN	R	198;259;198;249	ENSP00000402811:L198R;ENSP00000355607:L259R;ENSP00000355606:L198R;ENSP00000411640:L249R	ENSP00000355606:L198R	L	+	2	0	GNPAT	229468386	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	7.698000	0.84413	2.132000	0.65825	0.377000	0.23210	CTT		0.343	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1			15	32	0	0	0	1	0	15	32					G	231401763	T	G	231401763	3	3	470	1	0	0	0	0	1	0	0	0	6541	1609	56	5	802	5	GNPAT	1	231401763	Missense_Mutation	SNP	T	TCGA-J8-A3YF-01A-12D-A23M-08	184388347	231401763	17848858	3	9614											
ZNF238	10472	broad.mit.edu	37	chr1	244217471	244217471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgaaagagaaagccaccaCggaggcagacagcaccaaaa	11	11	0	3			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr1:244217471C>T	ENST00000358704.4	+	2	544	c.395C>T	c.(394-396)aCg>aTg	p.T132M		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	123			E -> G (in dbSNP:rs1048824). {ECO:0000269|PubMed:7633419}.		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)										AAAGCCACCACGGAGGCAGAC	0.488																																						ENST00000358704.4																			0											c.(394-396)aCg>aTg		zinc finger and BTB domain containing 18							68	61	63					1																	244217471		2203	4300	6503	SO:0001583	missense	10472							g.chr1:244217471C>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.395C>T	1.37:g.244217471C>T	ENSP00000351539:p.Thr132Met						p.T132M	NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1					2	544	+								A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP	ENST00000358704.4	37	c.395C>T	CCDS1622.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.776598	0.70107	.	.	ENSG00000179456	ENST00000366538;ENST00000358704	T	0.12569	2.67	5.28	5.28	0.74379	.	0.160399	0.56097	D	0.000031	T	0.16300	0.0392	N	0.14661	0.345	0.53005	D	0.999967	D;D;D	0.61080	0.989;0.975;0.986	B;B;P	0.51582	0.446;0.375;0.674	T	0.04320	-1.0960	10	0.62326	D	0.03	.	18.9108	0.92483	0.0:1.0:0.0:0.0	.	132;123;132	B4DF20;Q99592;Q99592-2	.;ZN238_HUMAN;.	M	132	ENSP00000351539:T132M	ENSP00000351539:T132M	T	+	2	0	ZNF238	242284094	1.000000	0.71417	0.993000	0.49108	0.964000	0.63967	5.634000	0.67833	2.475000	0.83589	0.650000	0.86243	ACG		0.488	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2	NM_205768		8	30	0	0	0	1	0	8	30					T	244217471	C	T	244217471	3	4	470	1	0	0	0	0	1	0	0	0	17787	536	19	1	401	1	ZNF238	1	244217471	Missense_Mutation	SNP	C	TCGA-J8-A3YF-01A-12D-A23M-08	12815708	244217471	5033150	4	9615											
DPYSL5	56896	broad.mit.edu	37	chr2	27167581	27167581	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggggatgtcgctgttgtcGtgcaccctgggaaaaaagag	16	7	0	1			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr2:27167581G>A	ENST00000288699.6	+	12	1656	c.1498G>A	c.(1498-1500)Gtg>Atg	p.V500M	DPYSL5_ENST00000401478.1_Missense_Mutation_p.V500M	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	500					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.V500M(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGCTGTTGTCGTGCACCCTGG	0.567																																						ENST00000288699.6																			1	Substitution - Missense(1)	p.V500M(1)	prostate(1)	breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(1498-1500)Gtg>Atg		dihydropyrimidinase-like 5							89	86	87					2																	27167581		2203	4300	6503	SO:0001583	missense	56896				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr2:27167581G>A	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.1498G>A	2.37:g.27167581G>A	ENSP00000288699:p.Val500Met					DPYSL5_ENST00000401478.1_Missense_Mutation_p.V500M	p.V500M	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN			12	1656	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		500					Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	ENST00000288699.6	37	c.1498G>A	CCDS1730.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.505791	0.26949	.	.	ENSG00000157851	ENST00000288699;ENST00000401478	D;D	0.85484	-1.99;-1.99	5.24	5.24	0.73138	.	0.431218	0.24654	N	0.036700	T	0.69762	0.3147	N	0.04018	-0.295	0.33967	D	0.646392	B	0.27013	0.166	B	0.23018	0.043	T	0.70601	-0.4827	10	0.15066	T	0.55	-13.6882	17.5986	0.88020	0.0:0.0:1.0:0.0	.	500	Q9BPU6	DPYL5_HUMAN	M	500	ENSP00000288699:V500M;ENSP00000385549:V500M	ENSP00000288699:V500M	V	+	1	0	DPYSL5	27021085	1.000000	0.71417	0.935000	0.37517	0.967000	0.64934	3.290000	0.51755	2.459000	0.83118	0.462000	0.41574	GTG		0.567	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134		42	87	0	0	0	1	0	42	87					A	27167581	G	A	27167581	3	1	470	1	0	0	0	0	1	0	0	0	4750	1145	40	1	1540	1	DPYSL5	2	27167581	Missense_Mutation	SNP	G	TCGA-J8-A3YF-01A-12D-A23M-08		27167581	216031792	5	9616											
MAGI1	9223	broad.mit.edu	37	chr3	65350583	65350583	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtggtgatggtggcaaTcttctctgcattggtcagca	14	7	3	1			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr3:65350583T>C	ENST00000497477.2	-	18	3033	c.3034A>G	c.(3034-3036)Att>Gtt	p.I1012V	MAGI1_ENST00000330909.8_Missense_Mutation_p.I1107V|MAGI1_ENST00000402939.2_Missense_Mutation_p.I1079V|MAGI1_ENST00000483466.1_Missense_Mutation_p.I1108V			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1083	Interaction with FCHSD2.|PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		ATGGTGGCAATCTTCTCTGCA	0.498																																						ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(3319-3321)Att>Gtt		membrane associated guanylate kinase, WW and PDZ domain containing 1							254	243	247					3																	65350583		2203	4300	6503	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65350583T>C	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"BAI1-associated protein 1"	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.3034A>G	3.37:g.65350583T>C	ENSP00000424369:p.Ile1012Val					MAGI1_ENST00000402939.2_Missense_Mutation_p.I1079V|MAGI1_ENST00000497477.2_Missense_Mutation_p.I1012V|MAGI1_ENST00000483466.1_Missense_Mutation_p.I1108V	p.I1107V	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	20	3318	-		Lung NSC(201;0.0016)	1108					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000497477.2	37	c.3319A>G		.	.	.	.	.	.	.	.	.	.	T	13.50	2.255811	0.39896	.	.	ENSG00000151276	ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257	T;T;T;T;T;T	0.18502	2.71;2.33;2.34;2.34;2.21;2.35	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.17450	0.0419	L	0.36672	1.1	0.39865	D	0.973434	B;B;B;B	0.32051	0.194;0.354;0.151;0.184	B;B;B;B	0.34489	0.184;0.138;0.07;0.079	T	0.06625	-1.0816	10	0.26408	T	0.33	-23.5724	16.8061	0.85666	0.0:0.0:0.0:1.0	.	1012;1108;1079;1107	Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	.;.;.;.	V	1079;1107;1003;983;1108;1012;866	ENSP00000385450:I1079V;ENSP00000331157:I1107V;ENSP00000418177:I983V;ENSP00000420323:I1108V;ENSP00000424369:I1012V;ENSP00000420796:I866V	ENSP00000331157:I1107V	I	-	1	0	MAGI1	65325623	1.000000	0.71417	0.997000	0.53966	0.944000	0.59088	8.040000	0.89188	2.367000	0.80283	0.528000	0.53228	ATT		0.498	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		65	116	0	0	0	1	0	65	116					C	65350583	T	C	65350583	3	2	470	1	0	0	0	0	1	0	0	0	9190	1435	50	3	1316	3	MAGI1	3	65350583	Missense_Mutation	SNP	T	TCGA-J8-A3YF-01A-12D-A23M-08		65350583	132671847	6	9617											
PACRGL	133015	broad.mit.edu	37	chr4	20715141	20715141	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtccttctctaaacgaccaTctgaagcatctgcttacaag	7	12	3	1			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr4:20715141T>A	ENST00000503585.1	+	7	979	c.588T>A	c.(586-588)caT>caA	p.H196Q	PACRGL_ENST00000538990.1_Missense_Mutation_p.H98Q|PACRGL_ENST00000360916.5_Missense_Mutation_p.H196Q|PACRGL_ENST00000444671.2_Missense_Mutation_p.H98Q|PACRGL_ENST00000295290.8_Missense_Mutation_p.H196Q|PACRGL_ENST00000507634.1_Missense_Mutation_p.H196Q|PACRGL_ENST00000513459.1_Missense_Mutation_p.H143Q|PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000502374.1_Missense_Mutation_p.H143Q	NM_001258345.1	NP_001245274.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	196										endometrium(2)|lung(7)|prostate(1)	10						TAAACGACCATCTGAAGCATC	0.388																																						ENST00000360916.5																			0				endometrium(2)|lung(7)|prostate(1)	10						c.(586-588)caT>caA		PARK2 co-regulated-like							219	174	190					4																	20715141		2203	4300	6503	SO:0001583	missense	133015						binding	g.chr4:20715141T>A	AK098692	CCDS3427.1, CCDS47034.1, CCDS58895.1, CCDS58896.1	4p15.31	2008-10-02	2008-10-02	2008-10-02	ENSG00000163138	ENSG00000163138			28442	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 28"	C4orf28		12477932	Standard	NM_145048		Approved	MGC29898	uc010iek.3	Q8N7B6	OTTHUMG00000128550	ENST00000503585.1:c.588T>A	4.37:g.20715141T>A	ENSP00000423881:p.His196Gln					PACRGL_ENST00000295290.8_Missense_Mutation_p.H196Q|PACRGL_ENST00000444671.2_Missense_Mutation_p.H98Q|PACRGL_ENST00000507634.1_Missense_Mutation_p.H196Q|PACRGL_ENST00000503585.1_Missense_Mutation_p.H196Q|PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000538990.1_Missense_Mutation_p.H98Q|PACRGL_ENST00000502374.1_Missense_Mutation_p.H143Q|PACRGL_ENST00000513459.1_Missense_Mutation_p.H143Q	p.H196Q	NM_145048.3	NP_659485.1	Q8N7B6	PACRL_HUMAN			7	979	+			196					B2RDB9|B4DFF8|B4DMN7|Q8TBA8	Missense_Mutation	SNP	ENST00000503585.1	37	c.588T>A	CCDS58895.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.067616	0.76301	.	.	ENSG00000163138	ENST00000510051;ENST00000503585;ENST00000360916;ENST00000295290;ENST00000444671;ENST00000502374;ENST00000538990;ENST00000513590;ENST00000514292;ENST00000507634;ENST00000513459;ENST00000511089	T;T;T;T;T;T;T;T;T	0.68624	3.54;-0.34;3.54;3.54;3.54;3.54;3.54;3.54;3.54	5.64	1.91	0.25777	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77651	0.4162	M	0.75264	2.295	0.28295	N	0.923384	D;D;D;D;D;D	0.89917	0.999;0.999;0.996;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.993;0.989;0.973;0.998;0.999;0.982	T	0.69960	-0.5003	10	0.66056	D	0.02	-17.2156	8.5287	0.33321	0.0:0.2815:0.0:0.7185	.	143;196;244;98;143;196	B4DFF8;Q8N7B6;D6R9N9;B4DMN7;D6RGK2;Q8N7B6-2	.;PACRL_HUMAN;.;.;.;.	Q	244;196;196;196;98;143;98;196;98;196;143;143	ENSP00000423499:H244Q;ENSP00000423881:H196Q;ENSP00000354171:H196Q;ENSP00000295290:H196Q;ENSP00000425461:H143Q;ENSP00000422425:H196Q;ENSP00000425938:H196Q;ENSP00000426286:H143Q;ENSP00000421687:H143Q	ENSP00000295290:H196Q	H	+	3	2	PACRGL	20324239	0.990000	0.36364	0.998000	0.56505	0.975000	0.68041	0.077000	0.14738	0.111000	0.17947	0.533000	0.62120	CAT		0.388	PACRGL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360321.2	NM_145048		13	63	0	0	0	1	0	13	63					A	20715141	T	A	20715141	3	1	470	1	0	0	0	0	1	0	0	0	11371	1432	50	5	610	5	PACRGL	4	20715141	Missense_Mutation	SNP	T	TCGA-J8-A3YF-01A-12D-A23M-08		20715141	170439135	7	9618											
KIAA1211	57482	broad.mit.edu	37	chr4	57182015	57182015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggagatgcaccgggagcccGcagacaccaccgagggatgc	15	14	0	2			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr4:57182015G>A	ENST00000504228.1	+	6	2452	c.2347G>A	c.(2347-2349)Gca>Aca	p.A783T	KIAA1211_ENST00000264229.6_Missense_Mutation_p.A783T|KIAA1211_ENST00000541073.1_Missense_Mutation_p.A776T			Q6ZU35	K1211_HUMAN	KIAA1211	783										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CCGGGAGCCCGCAGACACCAC	0.617																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(2347-2349)Gca>Aca		KIAA1211							70	84	79					4																	57182015		1993	4171	6164	SO:0001583	missense	57482							g.chr4:57182015G>A	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2347G>A	4.37:g.57182015G>A	ENSP00000423366:p.Ala783Thr					KIAA1211_ENST00000264229.6_Missense_Mutation_p.A783T|KIAA1211_ENST00000541073.1_Missense_Mutation_p.A776T	p.A783T			Q6ZU35	K1211_HUMAN			6	2452	+	Glioma(25;0.08)|all_neural(26;0.101)		783					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.2347G>A	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.931056	0.34096	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.11277	2.79;2.79;2.79	4.69	-8.05	0.01106	.	.	.	.	.	T	0.02230	0.0069	N	0.02539	-0.55	0.09310	N	1	P;P;P	0.38455	0.632;0.632;0.632	B;B;B	0.25884	0.03;0.03;0.064	T	0.32693	-0.9897	9	0.02654	T	1	-0.1679	12.4438	0.55639	0.6539:0.0837:0.2624:0.0	.	776;776;783	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	T	783;783;776;693	ENSP00000264229:A783T;ENSP00000423366:A783T;ENSP00000444006:A776T	ENSP00000264229:A783T	A	+	1	0	KIAA1211	56876772	0.000000	0.05858	0.000000	0.03702	0.410000	0.31052	0.065000	0.14466	-2.074000	0.00877	0.561000	0.74099	GCA		0.617	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		35	69	0	0	0	1	0	35	69					A	57182015	G	A	57182015	3	1	470	1	0	0	0	0	1	0	0	0	8215	1087	38	1	2365	1	KIAA1211	4	57182015	Missense_Mutation	SNP	G	TCGA-J8-A3YF-01A-12D-A23M-08	36466874	57182015	133972261	8	9619											
METTL14	57721	broad.mit.edu	37	chr4	119631352	119631352	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaagaggtggaacttcTgctggccgtggacgagaaag	18	6	1	2			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr4:119631352T>A	ENST00000388822.5	+	11	1433	c.1266T>A	c.(1264-1266)tcT>tcA	p.S422S	METTL14_ENST00000506780.1_Silent_p.S384S			Q9HCE5	MET14_HUMAN	methyltransferase like 14	422	Gly-rich.				mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						GTGGAACTTCTGCTGGCCGTG	0.532																																						ENST00000388822.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						c.(1264-1266)tcT>tcA		methyltransferase like 14							56	58	57					4																	119631352		2203	4300	6503	SO:0001819	synonymous_variant	57721					nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity	g.chr4:119631352T>A	AB046847	CCDS34053.1	4q26	2009-02-24			ENSG00000145388	ENSG00000145388			29330	protein-coding gene	gene with protein product						10997877	Standard	NM_020961		Approved	KIAA1627	uc003icf.3	Q9HCE5	OTTHUMG00000161167	ENST00000388822.5:c.1266T>A	4.37:g.119631352T>A						METTL14_ENST00000506780.1_Silent_p.S384S	p.S422S			Q9HCE5	MTL14_HUMAN			11	1433	+			422			Gly-rich.		A6NIG1|Q969V2	Silent	SNP	ENST00000388822.5	37	c.1266T>A	CCDS34053.1																																																																																				0.532	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364034.3	NM_020961		16	40	0	0	0	1	0	16	40					A	119631352	T	A	119631352	2	1	470	1	0	0	0	0	0	0	0	1	9498	1567	55	5		5	METTL14	4	119631352	Silent	SNP	T	TCGA-J8-A3YF-01A-12D-A23M-08	62449337	119631352	71522924	9	9620											
CAP2	10486	broad.mit.edu	37	chr6	17539622	17539622	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcgagaatgaaggcaaaaaAgaggaatcttctccttcacg	9	8	3	3			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr6:17539622A>T	ENST00000229922.2	+	8	1291	c.759A>T	c.(757-759)aaA>aaT	p.K253N	CAP2_ENST00000493172.1_Intron|CAP2_ENST00000378990.2_Missense_Mutation_p.K227N|CAP2_ENST00000489374.1_Missense_Mutation_p.K141N|CAP2_ENST00000465994.1_Missense_Mutation_p.K189N	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	253					activation of adenylate cyclase activity (GO:0007190)|axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|establishment or maintenance of cell polarity (GO:0007163)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			AAGGCAAAAAAGAGGAATCTT	0.517																																						ENST00000229922.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27						c.(757-759)aaA>aaT		CAP, adenylate cyclase-associated protein, 2 (yeast)							144	125	131					6																	17539622		2203	4300	6503	SO:0001583	missense	10486				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding	g.chr6:17539622A>T	BC008481	CCDS4539.1	6p22.3	2008-02-05			ENSG00000112186	ENSG00000112186			20039	protein-coding gene	gene with protein product						7962207, 8761950	Standard	NM_006366		Approved		uc003ncb.3	P40123	OTTHUMG00000014311	ENST00000229922.2:c.759A>T	6.37:g.17539622A>T	ENSP00000229922:p.Lys253Asn					CAP2_ENST00000489374.1_Missense_Mutation_p.K141N|CAP2_ENST00000493172.1_Intron|CAP2_ENST00000378990.2_Missense_Mutation_p.K227N|CAP2_ENST00000465994.1_Missense_Mutation_p.K189N	p.K253N	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	all cancers(50;0.194)|Epithelial(50;0.227)		8	1291	+	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	253					B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	Missense_Mutation	SNP	ENST00000229922.2	37	c.759A>T	CCDS4539.1	.	.	.	.	.	.	.	.	.	.	a	8.539	0.872753	0.17322	.	.	ENSG00000112186	ENST00000229922;ENST00000378994;ENST00000489374;ENST00000378990;ENST00000465994	T;T;T;T	0.12569	2.67;2.67;2.67;2.67	5.53	3.16	0.36331	Adenylate cyclase-associated CAP, N-terminal (1);	0.490245	0.24678	N	0.036484	T	0.03434	0.0099	L	0.38838	1.175	0.42982	D	0.994463	B;B;B;B	0.32010	0.351;0.001;0.002;0.0	B;B;B;B	0.30943	0.122;0.006;0.006;0.004	T	0.40869	-0.9540	10	0.20519	T	0.43	-11.1172	7.7785	0.29051	0.7044:0.0:0.2956:0.0	.	141;189;227;253	B7Z385;B7Z1C4;E9PDI2;P40123	.;.;.;CAP2_HUMAN	N	253;170;141;227;189	ENSP00000229922:K253N;ENSP00000417705:K141N;ENSP00000368275:K227N;ENSP00000418604:K189N	ENSP00000229922:K253N	K	+	3	2	CAP2	17647601	0.865000	0.29922	0.081000	0.20488	0.616000	0.37450	0.994000	0.29693	0.395000	0.25257	-0.250000	0.11733	AAA		0.517	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039952.2			30	72	0	0	0	1	0	30	72					T	17539622	A	T	17539622	3	4	470	1	0	0	0	0	1	0	0	0	2620	69	3	5	785	5	CAP2	6	17539622	Missense_Mutation	SNP	A	TCGA-J8-A3YF-01A-12D-A23M-08		17539622	153575445	10	9621											
ZNF292	23036	broad.mit.edu	37	chr6	87925716	87925716	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atccaaagttatgttaaagcCcgaccttatcttacctctga	5	11	2	1			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr6:87925716C>G	ENST00000369577.3	+	2	307	c.264C>G	c.(262-264)gcC>gcG	p.A88A	ZNF292_ENST00000339907.4_Silent_p.A88A|ZNF292_ENST00000369578.2_3'UTR	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	88						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)		ATGTTAAAGCCCGACCTTATC	0.378																																						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.(262-264)gcC>gcG		zinc finger protein 292							149	136	140					6																	87925716		1890	4105	5995	SO:0001819	synonymous_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87925716C>G	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.264C>G	6.37:g.87925716C>G						ZNF292_ENST00000369578.2_3'UTR|ZNF292_ENST00000339907.4_Silent_p.A88A	p.A88A	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	2	307	+		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)	88					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Silent	SNP	ENST00000369577.3	37	c.264C>G	CCDS47457.1																																																																																				0.378	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		18	31	0	0	0	1	0	18	31					G	87925716	C	G	87925716	2	3	470	1	0	0	0	0	0	0	0	1	17823	610	22	4		4	ZNF292	6	87925716	Silent	SNP	C	TCGA-J8-A3YF-01A-12D-A23M-08	70386094	87925716	83189351	11	9622											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		19	52	0	0	0	1	0	19	52					T	140453136	A	T	140453136	3	4	470	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-J8-A3YF-01A-12D-A23M-08		140453136	18685527	12	9623											
TEX15	56154	broad.mit.edu	37	chr8	30695301	30695301	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaagcagcacaatctttcttAtcactttttgtttcagcagc	5	10	4	0			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr8:30695301A>T	ENST00000256246.2	-	3	7424	c.7350T>A	c.(7348-7350)gaT>gaA	p.D2450E		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2450					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AATCTTTCTTATCACTTTTTG	0.348																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(7348-7350)gaT>gaA		testis expressed 15							169	174	172					8																	30695301		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30695301A>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7350T>A	8.37:g.30695301A>T	ENSP00000256246:p.Asp2450Glu						p.D2450E	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	3	7424	-			2450						Missense_Mutation	SNP	ENST00000256246.2	37	c.7350T>A	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	A	11.49	1.653440	0.29425	.	.	ENSG00000133863	ENST00000256246	T	0.10573	2.86	4.97	0.809	0.18725	.	1.139260	0.06555	N	0.745804	T	0.08670	0.0215	L	0.29908	0.895	0.09310	N	1	B	0.20550	0.046	B	0.15484	0.013	T	0.38845	-0.9642	10	0.87932	D	0	.	5.4676	0.16652	0.4745:0.3544:0.0:0.1711	.	2450	Q9BXT5	TEX15_HUMAN	E	2450	ENSP00000256246:D2450E	ENSP00000256246:D2450E	D	-	3	2	TEX15	30814843	0.000000	0.05858	0.001000	0.08648	0.084000	0.17831	0.364000	0.20325	0.396000	0.25283	0.379000	0.24179	GAT		0.348	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			40	147	0	0	0	1	0	40	147					T	30695301	A	T	30695301	3	4	470	1	0	0	0	0	1	0	0	0	15776	446	16	5	1027	5	TEX15	8	30695301	Missense_Mutation	SNP	A	TCGA-J8-A3YF-01A-12D-A23M-08		30695301	115668721	13	9624											
UBXN2B	137886	broad.mit.edu	37	chr8	59347057	59347057	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaatttctggagtctgttaAgagagggtaagatgtattat	11	3	3	2			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr8:59347057A>G	ENST00000399598.2	+	5	649	c.527A>G	c.(526-528)aAg>aGg	p.K176R	UBXN2B_ENST00000522978.1_3'UTR	NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	176	SEP. {ECO:0000255|PROSITE- ProRule:PRU00732}.					endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						GAGTCTGTTAAGAGAGGGTAA	0.348																																						ENST00000399598.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(526-528)aAg>aGg		UBX domain protein 2B							85	79	81					8																	59347057		1827	4082	5909	SO:0001583	missense	137886					cytosol|endoplasmic reticulum|Golgi apparatus|nucleus		g.chr8:59347057A>G	AK054658	CCDS43741.1	8q12.1	2008-08-08			ENSG00000215114	ENSG00000215114		"UBX domain containing"	27035	protein-coding gene	gene with protein product		610686				8619474, 9110174	Standard	NM_001077619		Approved	p37	uc003xtl.3	Q14CS0	OTTHUMG00000164300	ENST00000399598.2:c.527A>G	8.37:g.59347057A>G	ENSP00000382507:p.Lys176Arg					UBXN2B_ENST00000522978.1_3'UTR	p.K176R	NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN			5	649	+			176			SEP.		B3KWZ3	Missense_Mutation	SNP	ENST00000399598.2	37	c.527A>G	CCDS43741.1	.	.	.	.	.	.	.	.	.	.	A	10.15	1.271919	0.23221	.	.	ENSG00000215114	ENST00000399598	T	0.41758	0.99	5.78	5.78	0.91487	SEP domain (4);	0.000000	0.47093	U	0.000248	T	0.23171	0.0560	N	0.05158	-0.105	0.36752	D	0.88281	P	0.36199	0.543	B	0.39660	0.306	T	0.21415	-1.0246	10	0.02654	T	1	-16.8215	14.3498	0.66694	1.0:0.0:0.0:0.0	.	176	Q14CS0	UBX2B_HUMAN	R	176	ENSP00000382507:K176R	ENSP00000382507:K176R	K	+	2	0	UBXN2B	59509611	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	6.707000	0.74654	2.205000	0.71048	0.482000	0.46254	AAG		0.348	UBXN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378184.1	NM_001077619		11	23	0	0	0	1	0	11	23					G	59347057	A	G	59347057	3	3	470	1	0	0	0	0	1	0	0	0	16912	72	3	3	545	3	UBXN2B	8	59347057	Missense_Mutation	SNP	A	TCGA-J8-A3YF-01A-12D-A23M-08	28651756	59347057	87016965	14	9625											
FRMPD1	22844	broad.mit.edu	37	chr9	37745028	37745028	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagacctggatgggattgCccccaaagaaccaaccatag	9	12	1	2			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr9:37745028C>T	ENST00000539465.1	+	16	3592	c.2999C>T	c.(2998-3000)gCc>gTc	p.A1000V	FRMPD1_ENST00000377765.3_Missense_Mutation_p.A1000V|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1000						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GATGGGATTGCCCCCAAAGAA	0.547																																						ENST00000539465.1																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(2998-3000)gCc>gTc		FERM and PDZ domain containing 1							93	92	92					9																	37745028		2203	4300	6503	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37745028C>T	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.2999C>T	9.37:g.37745028C>T	ENSP00000444411:p.Ala1000Val					FRMPD1_ENST00000377765.3_Missense_Mutation_p.A1000V|RP11-613M10.9_ENST00000540557.1_Intron	p.A1000V			Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	3592	+			1000					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.2999C>T	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	C	8.326	0.825408	0.16749	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.07800	3.16;3.16	5.02	-1.05	0.10036	.	2.095410	0.01593	N	0.021670	T	0.05914	0.0154	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33777	-0.9855	10	0.23891	T	0.37	-1.1273	3.5435	0.07820	0.179:0.3546:0.0:0.4663	.	1000	Q5SYB0	FRPD1_HUMAN	V	1000	ENSP00000366995:A1000V;ENSP00000444411:A1000V	ENSP00000366995:A1000V	A	+	2	0	FRMPD1	37735028	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.482000	0.06544	-0.074000	0.12820	-0.475000	0.04921	GCC		0.547	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		4	135	0	0	0	1	0	4	135					T	37745028	C	T	37745028	3	4	470	1	0	0	0	0	1	0	0	0	6057	739	26	2	3057	2	FRMPD1	9	37745028	Missense_Mutation	SNP	C	TCGA-J8-A3YF-01A-12D-A23M-08		37745028	103468403	15	9626											
VCL	7414	broad.mit.edu	37	chr10	75874123	75874123	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caagcagtgcacagataaacGgattagaaccaacctcttac	7	11	1	2			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr10:75874123G>T	ENST00000211998.4	+	20	3225	c.3131G>T	c.(3130-3132)cGg>cTg	p.R1044L	VCL_ENST00000372755.3_Missense_Mutation_p.R976L|VCL_ENST00000417648.2_Missense_Mutation_p.R237L	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	1044	C-terminal tail.|Facilitates phospholipid membrane insertion. {ECO:0000250}.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					ACAGATAAACGGATTAGAACC	0.552																																						ENST00000211998.4																		VCL/ALK(4)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20						c.(3130-3132)cGg>cTg		vinculin							88	81	83					10																	75874123		2203	4300	6503	SO:0001583	missense	7414				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity	g.chr10:75874123G>T	M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"metavinculin"	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.3131G>T	10.37:g.75874123G>T	ENSP00000211998:p.Arg1044Leu					VCL_ENST00000372755.3_Missense_Mutation_p.R976L|VCL_ENST00000417648.2_Missense_Mutation_p.R237L	p.R1044L	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN			20	3225	+	Prostate(51;0.0112)		1044			C-terminal tail.|Facilitates phospholipid membrane insertion (By similarity).		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	ENST00000211998.4	37	c.3131G>T	CCDS7341.1	.	.	.	.	.	.	.	.	.	.	G	35	5.476120	0.96291	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000417648;ENST00000537043;ENST00000436396	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	5.98	5.98	0.97165	.	0.117663	0.56097	D	0.000030	T	0.62171	0.2406	L	0.52905	1.665	0.80722	D	1	D;D;P;D	0.71674	0.959;0.995;0.618;0.998	P;D;B;D	0.67725	0.798;0.946;0.238;0.953	T	0.60541	-0.7243	10	0.66056	D	0.02	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	237;903;976;1044	B4DTM7;F5H7T3;P18206-2;P18206	.;.;.;VINC_HUMAN	L	976;1044;237;903;716	ENSP00000361841:R976L;ENSP00000211998:R1044L;ENSP00000411887:R237L;ENSP00000415489:R716L	ENSP00000211998:R1044L	R	+	2	0	VCL	75544129	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.835000	0.97688	0.650000	0.86243	CGG		0.552	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003373, NM_014000		16	35	1	0	6.31663e-08	1	6.63246e-08	16	35					T	75874123	G	T	75874123	3	4	470	1	0	0	0	0	1	0	0	0	17136	1116	39	4	3209	4	VCL	10	75874123	Missense_Mutation	SNP	G	TCGA-J8-A3YF-01A-12D-A23M-08		75874123	59660624	16	9627											
OR51I1	390063	broad.mit.edu	37	chr11	5462660	5462660	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgcagaaaatcagggcaaCccaggtgaggcctgtttgta	13	8	1	2			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr11:5462660C>A	ENST00000380211.1	-	1	84	c.85G>T	c.(85-87)Gtt>Ttt	p.V29F	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	29					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)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCAGGGCAACCCAGGTGAGG	0.522																																						ENST00000380211.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(85-87)Gtt>Ttt		olfactory receptor, family 51, subfamily I, member 1							106	104	105					11																	5462660		2201	4297	6498	SO:0001583	missense	390063				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5462660C>A	BK004429	CCDS31382.1	11p15.4	2012-08-09			ENSG00000167359	ENSG00000167359		"GPCR / Class A : Olfactory receptors"	15200	protein-coding gene	gene with protein product							Standard	NM_001005288		Approved		uc010qze.2	Q9H343	OTTHUMG00000066908	ENST00000380211.1:c.85G>T	11.37:g.5462660C>A	ENSP00000369559:p.Val29Phe					HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	p.V29F	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	84	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	29					B9EKW2|Q6IF33	Missense_Mutation	SNP	ENST00000380211.1	37	c.85G>T	CCDS31382.1	.	.	.	.	.	.	.	.	.	.	C	5.281	0.237195	0.10023	.	.	ENSG00000167359	ENST00000317283;ENST00000321307;ENST00000380211	T	0.00333	8.07	5.75	-0.954	0.10359	.	0.458522	0.18233	N	0.147504	T	0.00144	0.0004	N	0.20357	0.565	0.18873	N	0.999982	B	0.26400	0.148	B	0.24541	0.054	T	0.39210	-0.9625	10	0.52906	T	0.07	.	2.8155	0.05454	0.1086:0.4636:0.1059:0.3219	.	29	Q9H343	O51I1_HUMAN	F	14;26;29	ENSP00000369559:V29F	ENSP00000348350:V14F	V	-	1	0	OR51I1	5419236	0.000000	0.05858	0.592000	0.28758	0.021000	0.10359	-2.852000	0.00731	-0.110000	0.12022	-0.916000	0.02749	GTT		0.522	OR51I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143399.1	NM_001005288		27	87	1	0	7.41945e-09	1	7.99018e-09	27	87					A	5462660	C	A	5462660	3	1	470	1	0	0	0	0	1	0	0	0	11100	507	18	4	863	4	OR51I1	11	5462660	Missense_Mutation	SNP	C	TCGA-J8-A3YF-01A-12D-A23M-08		5462660	129543856	17	9628											
MAP1A	4130	broad.mit.edu	37	chr15	43820887	43820887	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagctcccggcctgacacaTtgctctcccctgagcagcca	10	17	1	2			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr15:43820887T>C	ENST00000300231.5	+	4	7666	c.7216T>C	c.(7216-7218)Ttg>Ctg	p.L2406L	MAP1A_ENST00000382031.1_Silent_p.L2644L|MAP1A_ENST00000399453.1_Silent_p.L2406L			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2406					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GCCTGACACATTGCTCTCCCC	0.672																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(7930-7932)Ttg>Ctg		microtubule-associated protein 1A	Estramustine(DB01196)						22	27	26					15																	43820887		1911	4111	6022	SO:0001819	synonymous_variant	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43820887T>C	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.7216T>C	15.37:g.43820887T>C						MAP1A_ENST00000300231.5_Silent_p.L2406L|MAP1A_ENST00000399453.1_Silent_p.L2406L	p.L2644L			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	7961	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	2406					O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	ENST00000300231.5	37	c.7930T>C	CCDS42031.1																																																																																				0.672	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		14	30	0	0	0	1	0	14	30					C	43820887	T	C	43820887	2	2	470	1	0	0	0	0	0	0	0	1	9227	1490	52	3		3	MAP1A	15	43820887	Silent	SNP	T	TCGA-J8-A3YF-01A-12D-A23M-08		43820887	58710505	18	9629											
SPG21	51324	broad.mit.edu	37	chr15	65257674	65257674	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccttacctgtacataaagaTtgacctctgcacttctgcac	6	13	2	2			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr15:65257674T>C	ENST00000204566.2	-	8	1092	c.797A>G	c.(796-798)aAt>aGt	p.N266S	SPG21_ENST00000416889.2_Missense_Mutation_p.N239S|SPG21_ENST00000559199.1_Missense_Mutation_p.N112S|SPG21_ENST00000433215.2_Missense_Mutation_p.N266S	NM_016630.3	NP_057714.1	Q9NZD8	SPG21_HUMAN	spastic paraplegia 21 (autosomal recessive, Mast syndrome)	266					antigen receptor-mediated signaling pathway (GO:0050851)|cell death (GO:0008219)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network transport vesicle (GO:0030140)	CD4 receptor binding (GO:0042609)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						TACATAAAGATTGACCTCTGC	0.423																																						ENST00000559199.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						c.(334-336)aAt>aGt		spastic paraplegia 21 (autosomal recessive, Mast syndrome)							114	98	103					15																	65257674		2202	4299	6501	SO:0001583	missense	51324				cell death	cytosol|endosome membrane|trans-Golgi network transport vesicle	CD4 receptor binding	g.chr15:65257674T>C	AF208861	CCDS10198.1, CCDS45279.1	15q21-q22	2008-02-05	2007-04-23		ENSG00000090487	ENSG00000090487			20373	protein-coding gene	gene with protein product	"maspardin"	608181				11113139, 14564668	Standard	XM_006720564		Approved	ACP33, GL010, BM-019, MAST	uc002aoe.3	Q9NZD8	OTTHUMG00000133098	ENST00000204566.2:c.797A>G	15.37:g.65257674T>C	ENSP00000204566:p.Asn266Ser					SPG21_ENST00000204566.2_Missense_Mutation_p.N266S|SPG21_ENST00000433215.2_Missense_Mutation_p.N266S|SPG21_ENST00000416889.2_Missense_Mutation_p.N239S	p.N112S			Q9NZD8	SPG21_HUMAN			6	1335	-			266					B4DW44|Q6ZMB6	Missense_Mutation	SNP	ENST00000204566.2	37	c.335A>G	CCDS10198.1	.	.	.	.	.	.	.	.	.	.	T	19.88	3.909532	0.72868	.	.	ENSG00000090487	ENST00000204566;ENST00000416889;ENST00000433215	T;T	0.31769	1.48;1.48	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.46852	0.1414	M	0.78637	2.42	0.80722	D	1	B;B	0.25007	0.078;0.116	B;B	0.39503	0.139;0.301	T	0.48559	-0.9025	10	0.66056	D	0.02	-10.8186	15.3978	0.74812	0.0:0.0:0.0:1.0	.	239;266	Q9NZD8-2;Q9NZD8	.;SPG21_HUMAN	S	266;239;266	ENSP00000204566:N266S;ENSP00000404111:N266S	ENSP00000204566:N266S	N	-	2	0	SPG21	63044727	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	7.958000	0.87877	2.231000	0.72958	0.533000	0.62120	AAT		0.423	SPG21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256758.3	NM_016630		15	50	0	0	0	1	0	15	50					C	65257674	T	C	65257674	3	2	470	1	0	0	0	0	1	0	0	0	15042	1493	52	3	137	3	SPG21	15	65257674	Missense_Mutation	SNP	T	TCGA-J8-A3YF-01A-12D-A23M-08	21436787	65257674	37273718	19	9630											
GOLGA6B	55889	broad.mit.edu	37	chr15	72953665	72953665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagaccataaaggagcggGcgctgctgaacgcacacgtg	14	11	0	2			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr15:72953665G>A	ENST00000421285.3	+	8	625	c.625G>A	c.(625-627)Gcg>Acg	p.A209T		NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	209						Golgi apparatus (GO:0005794)				NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						AAAGGAGCGGGCGCTGCTGAA	0.592																																						ENST00000421285.3																			0				NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						c.(625-627)Gcg>Acg		golgin A6 family, member B							49	63	58					15																	72953665		1460	2616	4076	SO:0001583	missense	55889							g.chr15:72953665G>A		CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6B"				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.625G>A	15.37:g.72953665G>A	ENSP00000408132:p.Ala209Thr						p.A209T	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN			8	625	+			209					A8MYY7	Missense_Mutation	SNP	ENST00000421285.3	37	c.625G>A	CCDS10245.2	.	.	.	.	.	.	.	.	.	.	.	13.50	2.256642	0.39896	.	.	ENSG00000215186	ENST00000421285	T	0.21932	1.98	0.39	0.39	0.16275	.	.	.	.	.	T	0.37156	0.0993	M	0.71206	2.165	0.24859	N	0.992358	D	0.60575	0.988	P	0.62885	0.908	T	0.11966	-1.0566	9	0.72032	D	0.01	.	6.668	0.23052	2.0E-4:0.0:0.9998:0.0	.	209	A6NDN3	GOG6B_HUMAN	T	209	ENSP00000408132:A209T	ENSP00000408132:A209T	A	+	1	0	GOLGA6B	70740719	0.701000	0.27806	0.019000	0.16419	0.010000	0.07245	0.767000	0.26575	0.472000	0.27344	0.134000	0.15878	GCG		0.592	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652		5	55	0	0	0	1	0	5	55					A	72953665	G	A	72953665	3	1	470	1	0	0	0	0	1	0	0	0	6558	1203	42	2	655	2	GOLGA6B	15	72953665	Missense_Mutation	SNP	G	TCGA-J8-A3YF-01A-12D-A23M-08	7695991	72953665	29577727	20	9631											
USP10	9100	broad.mit.edu	37	chr16	84797774	84797774	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaaggaagcgaggatgaAtgggaacaagtgggcccccg	18	7	0	2			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr16:84797774A>G	ENST00000219473.7	+	10	1850	c.1737A>G	c.(1735-1737)gaA>gaG	p.E579E	USP10_ENST00000570191.1_Silent_p.E583E	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	579	USP.				autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						GCGAGGATGAATGGGAACAAG	0.507																																						ENST00000219473.7																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						c.(1735-1737)gaA>gaG		ubiquitin specific peptidase 10							73	75	74					16																	84797774		1881	4099	5980	SO:0001819	synonymous_variant	9100				DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:84797774A>G	D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"Ubiquitin-specific peptidases"	12608	protein-coding gene	gene with protein product		609818	"ubiquitin specific protease 10"			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.1737A>G	16.37:g.84797774A>G						USP10_ENST00000570191.1_Silent_p.E583E	p.E579E	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN			10	1850	+			579					B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Silent	SNP	ENST00000219473.7	37	c.1737A>G	CCDS45537.1																																																																																				0.507	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1			18	42	0	0	0	1	0	18	42					G	84797774	A	G	84797774	2	3	470	1	0	0	0	0	0	0	0	1	17038	98	4	3		3	USP10	16	84797774	Silent	SNP	A	TCGA-J8-A3YF-01A-12D-A23M-08		84797774	5556979	21	9632											
DDX42	11325	broad.mit.edu	37	chr17	61885144	61885144	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgccaaaacaggtagtgggAaaactgcagccttcatttgg	11	8	1	0			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr17:61885144A>G	ENST00000578681.1	+	10	1508	c.907A>G	c.(907-909)Aaa>Gaa	p.K303E	DDX42_ENST00000583590.1_Missense_Mutation_p.K303E|DDX42_ENST00000359353.5_Missense_Mutation_p.K184E|DDX42_ENST00000457800.2_Missense_Mutation_p.K303E|DDX42_ENST00000389924.2_Missense_Mutation_p.K303E	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	303	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						AGGTAGTGGGAAAACTGCAGC	0.423																																						ENST00000578681.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						c.(907-909)Aaa>Gaa		DEAD (Asp-Glu-Ala-Asp) box helicase 42							184	169	174					17																	61885144		2203	4300	6503	SO:0001583	missense	11325				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr17:61885144A>G	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"DEAD-boxes"	18676	protein-coding gene	gene with protein product	"splicing factor 3b, subunit 8"	613369	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.907A>G	17.37:g.61885144A>G	ENSP00000464050:p.Lys303Glu					DDX42_ENST00000359353.5_Missense_Mutation_p.K184E|DDX42_ENST00000457800.2_Missense_Mutation_p.K303E|DDX42_ENST00000389924.2_Missense_Mutation_p.K303E|DDX42_ENST00000583590.1_Missense_Mutation_p.K303E	p.K303E	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN			10	1508	+			303			Helicase ATP-binding.		A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	37	c.907A>G	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.697494	0.88830	.	.	ENSG00000198231	ENST00000389924;ENST00000457800;ENST00000359353	T;T	0.73789	-0.78;-0.78	5.93	4.86	0.63082	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.041854	0.85682	N	0.000000	D	0.91754	0.7392	H	0.99464	4.58	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93257	0.6640	10	0.87932	D	0	-18.3363	11.2557	0.49052	0.9292:0.0:0.0708:0.0	.	303	Q86XP3	DDX42_HUMAN	E	303;303;39	ENSP00000374574:K303E;ENSP00000390121:K303E	ENSP00000352308:K39E	K	+	1	0	DDX42	59238876	1.000000	0.71417	0.985000	0.45067	0.971000	0.66376	9.339000	0.96797	1.082000	0.41137	-0.256000	0.11100	AAA		0.423	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		45	84	0	0	0	1	0	45	84					G	61885144	A	G	61885144	3	3	470	1	0	0	0	0	1	0	0	0	4362	247	9	3	937	3	DDX42	17	61885144	Missense_Mutation	SNP	A	TCGA-J8-A3YF-01A-12D-A23M-08		61885144	19310066	22	9633											
RNMT	8731	broad.mit.edu	37	chr18	13734551	13734551	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaagcgtagtcaaagtcgtaTtttttacctaagaaacttta	7	6	1	1			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr18:13734551T>A	ENST00000383314.2	+	4	746	c.506T>A	c.(505-507)aTt>aAt	p.I169N	RNMT_ENST00000589866.1_Missense_Mutation_p.I169N|RNMT_ENST00000262173.3_Missense_Mutation_p.I169N|RNMT_ENST00000535051.1_5'UTR|RNMT_ENST00000543302.2_Missense_Mutation_p.I169N|RNMT_ENST00000592764.1_Missense_Mutation_p.I169N			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	169	mRNA cap 0 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00895}.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA (guanine-N7)-methylation (GO:0036265)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|receptor complex (GO:0043235)	mRNA (guanine-N7-)-methyltransferase activity (GO:0004482)|RNA binding (GO:0003723)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						CAAAGTCGTATTTTTTACCTA	0.353																																					GBM(29;474 594 19092 36647 41529)	ENST00000383314.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						c.(505-507)aTt>aAt		RNA (guanine-7-) methyltransferase							103	105	104					18																	13734551		2203	4300	6503	SO:0001583	missense	8731				mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding	g.chr18:13734551T>A	AF067791	CCDS11867.1	18p11.21	2008-05-14			ENSG00000101654	ENSG00000101654	2.1.1.56		10075	protein-coding gene	gene with protein product		603514				9828141, 9705270	Standard	NM_003799		Approved	RG7MT1	uc002ksl.1	O43148	OTTHUMG00000131718	ENST00000383314.2:c.506T>A	18.37:g.13734551T>A	ENSP00000372804:p.Ile169Asn					RNMT_ENST00000589866.1_Missense_Mutation_p.I169N|RNMT_ENST00000592764.1_Missense_Mutation_p.I169N|RNMT_ENST00000543302.2_Missense_Mutation_p.I169N|RNMT_ENST00000535051.1_5'UTR|RNMT_ENST00000262173.3_Missense_Mutation_p.I169N	p.I169N			O43148	MCES_HUMAN			4	746	+			169					B0YJ90|D3DUJ5|O94996|Q9UIJ9	Missense_Mutation	SNP	ENST00000383314.2	37	c.506T>A	CCDS11867.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.808951	0.90707	.	.	ENSG00000101654	ENST00000383314;ENST00000543302;ENST00000262173	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.84813	0.5555	M	0.89353	3.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87710	0.2566	9	0.87932	D	0	-2.0513	16.3317	0.83023	0.0:0.0:0.0:1.0	.	169;169	O43148-2;O43148	.;MCES_HUMAN	N	169	.	ENSP00000262173:I169N	I	+	2	0	RNMT	13724551	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.270000	0.78493	2.264000	0.75181	0.533000	0.62120	ATT		0.353	RNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254636.1	NM_003799		20	28	0	0	0	1	0	20	28					A	13734551	T	A	13734551	3	1	470	1	0	0	0	0	1	0	0	0	13506	1493	52	5	512	5	RNMT	18	13734551	Missense_Mutation	SNP	T	TCGA-J8-A3YF-01A-12D-A23M-08		13734551	64342697	23	9634											
PRSSL1	400668	broad.mit.edu	37	chr19	686939	686939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttaccgagcagaagccccGtctgtggctgtccccactgc	10	16	2	1	rs200709250	byFrequency	TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr19:686939G>A	ENST00000329267.7	-	4	660	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W		NM_214710.3	NP_999875	Q6UWY2	PRS57_HUMAN	protease, serine, 57	211	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|lung(5)	6						CAGAAGCCCCGTCTGTGGCTG	0.637													G|||	2	0.000399361	0	0.0014	5008	,	,		18807	0.001		0	False		,,,				2504	0					ENST00000329267.7																			0				central_nervous_system(1)|lung(5)	6						c.(631-633)Cgg>Tgg		protease, serine, 57							56	56	56					19																	686939		2203	4300	6503	SO:0001583	missense	400668				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:686939G>A	AY358594	CCDS12041.1	19p13.3	2012-03-26	2011-03-07	2011-03-07		ENSG00000185198		"Serine peptidases / Serine peptidases"	31397	protein-coding gene	gene with protein product			"protease, serine-like 1"	PRSSL1		12975309	Standard	NM_214710		Approved	UNQ782	uc002lpl.1	Q6UWY2		ENST00000329267.7:c.631C>T	19.37:g.686939G>A	ENSP00000327386:p.Arg211Trp						p.R211W	NM_214710.3	NP_999875.1	Q6UWY2	PRS57_HUMAN			4	660	-			211			Peptidase S1.		B2RNW8	Missense_Mutation	SNP	ENST00000329267.7	37	c.631C>T	CCDS12041.1	.	.	.	.	.	.	.	.	.	.	G	9.998	1.232707	0.22626	.	.	ENSG00000185198	ENST00000329267	D	0.89485	-2.52	4.91	1.02	0.19986	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.459045	0.15496	N	0.259279	D	0.93572	0.7948	M	0.87097	2.86	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.983	D	0.84518	0.0626	10	0.72032	D	0.01	.	8.5997	0.33736	0.0:0.1826:0.4721:0.3453	.	210;211	B7ZMF6;Q6UWY2	.;PRS57_HUMAN	W	211	ENSP00000327386:R211W	ENSP00000327386:R211W	R	-	1	2	PRSS57	637939	0.001000	0.12720	0.038000	0.18304	0.022000	0.10575	0.260000	0.18424	1.051000	0.40369	-0.475000	0.04921	CGG		0.637	PRSS57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452480.2	NM_214710		7	62	0	0	0	1	0	7	62					A	686939	G	A	686939	3	1	470	1	0	0	0	0	1	0	0	0	12636	1144	40	1	228	1	PRSSL1	19	686939	Missense_Mutation	SNP	G	TCGA-J8-A3YF-01A-12D-A23M-08		686939	58442044	24	9635											
LYPD4	147719	broad.mit.edu	37	chr19	42342217	42342217	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgcagagataagaccgGcagacgcgactgtaggaggc	15	8	0	3			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr19:42342217G>A	ENST00000330743.3	-	4	1541	c.330C>T	c.(328-330)tgC>tgT	p.C110C	AC020956.3_ENST00000593354.1_lincRNA|LYPD4_ENST00000343055.4_Silent_p.C75C|LYPD4_ENST00000601246.1_Silent_p.C75C	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	110						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						GATAAGACCGGCAGACGCGAC	0.532																																						ENST00000330743.3																			0				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						c.(328-330)tgC>tgT		LY6/PLAUR domain containing 4							142	122	129					19																	42342217		2203	4300	6503	SO:0001819	synonymous_variant	147719					anchored to membrane|plasma membrane		g.chr19:42342217G>A	AY358726	CCDS12587.1	19q13.2	2008-02-05				ENSG00000273111			28659	protein-coding gene	gene with protein product						12975309	Standard	XM_005278383		Approved	MGC42718	uc002orp.1	Q6UWN0		ENST00000330743.3:c.330C>T	19.37:g.42342217G>A						LYPD4_ENST00000601246.1_Silent_p.C75C|LYPD4_ENST00000343055.4_Silent_p.C75C	p.C110C	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN			4	1541	-			110					Q8IYW0	Silent	SNP	ENST00000330743.3	37	c.330C>T	CCDS12587.1																																																																																				0.532	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463039.1	NM_173506		38	90	0	0	0	1	0	38	90					A	42342217	G	A	42342217	2	1	470	1	0	0	0	0	0	0	0	1	9112	1195	42	2		2	LYPD4	19	42342217	Silent	SNP	G	TCGA-J8-A3YF-01A-12D-A23M-08	41655278	42342217	16786766	25	9636											
TULP2	7288	broad.mit.edu	37	chr19	49387078	49387078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaatcacagtcattttcCgaggccccaggtatcctaag	10	11	2	1			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr19:49387078C>T	ENST00000221399.3	-	11	1352	c.1208G>A	c.(1207-1209)cGg>cAg	p.R403Q		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	403					visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	protein complex binding (GO:0032403)			NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		AGTCATTTTCCGAGGCCCCAG	0.512																																						ENST00000221399.3																			0				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22						c.(1207-1209)cGg>cAg		tubby like protein 2							113	107	109					19																	49387078		2203	4300	6503	SO:0001583	missense	7288				visual perception	cytoplasm|extracellular region		g.chr19:49387078C>T	U82469	CCDS12739.1	19q13.1	2009-08-06			ENSG00000104804	ENSG00000104804			12424	protein-coding gene	gene with protein product	"cancer/testis antigen 65"	602309				9096357	Standard	NM_003323		Approved	TUBL2, CT65	uc002pkz.2	O00295	OTTHUMG00000164406	ENST00000221399.3:c.1208G>A	19.37:g.49387078C>T	ENSP00000221399:p.Arg403Gln						p.R403Q	NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)	11	1352	-		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	403					Q8TC50	Missense_Mutation	SNP	ENST00000221399.3	37	c.1208G>A	CCDS12739.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941687	0.73557	.	.	ENSG00000104804	ENST00000221399	D	0.98221	-4.8	4.91	4.91	0.64330	Tubby, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.99257	0.9741	H	0.95574	3.69	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	D	0.98781	1.0732	10	0.87932	D	0	-31.5079	16.0703	0.80922	0.0:1.0:0.0:0.0	.	403	O00295	TULP2_HUMAN	Q	403	ENSP00000221399:R403Q	ENSP00000221399:R403Q	R	-	2	0	TULP2	54078890	1.000000	0.71417	1.000000	0.80357	0.032000	0.12392	5.603000	0.67619	2.731000	0.93534	0.650000	0.86243	CGG		0.512	TULP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378633.1	NM_003323		27	41	0	0	0	1	0	27	41					T	49387078	C	T	49387078	3	4	470	1	0	0	0	0	1	0	0	0	16771	652	23	1	366	1	TULP2	19	49387078	Missense_Mutation	SNP	C	TCGA-J8-A3YF-01A-12D-A23M-08	7044861	49387078	9741905	26	9637											
KCNG1	3755	broad.mit.edu	37	chr20	49620640	49620640	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcactgtcctgggacacgCtcagctgcgacttggttttg	12	11	2	0			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr20:49620640C>T	ENST00000371571.4	-	3	1763	c.1478G>A	c.(1477-1479)aGc>aAc	p.S493N	KCNG1_ENST00000506387.1_5'UTR|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	493					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CTGGGACACGCTCAGCTGCGA	0.587																																						ENST00000371571.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1477-1479)aGc>aAc		potassium voltage-gated channel, subfamily G, member 1							98	71	80					20																	49620640		2203	4300	6503	SO:0001583	missense	3755					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:49620640C>T	AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.1478G>A	20.37:g.49620640C>T	ENSP00000360626:p.Ser493Asn					RP5-955M13.3_ENST00000506387.1_RNA|RP5-955M13.4_ENST00000424566.1_RNA	p.S493N	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN			3	1763	-			493					A8K3S4|O43528|Q5JXL5|Q9BRC1	Missense_Mutation	SNP	ENST00000371571.4	37	c.1478G>A	CCDS13436.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544688	0.65198	.	.	ENSG00000026559	ENST00000371571	D	0.97924	-4.61	4.89	4.89	0.63831	.	.	.	.	.	D	0.89808	0.6822	N	0.01576	-0.805	0.80722	D	1	P	0.46064	0.872	B	0.34418	0.182	D	0.90874	0.4748	8	.	.	.	.	18.1188	0.89565	0.0:1.0:0.0:0.0	.	493	Q9UIX4	KCNG1_HUMAN	N	493	ENSP00000360626:S493N	.	S	-	2	0	KCNG1	49054047	1.000000	0.71417	0.989000	0.46669	0.924000	0.55760	2.398000	0.44486	2.272000	0.75746	0.456000	0.33151	AGC		0.587	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237		20	36	0	0	0	1	0	20	36					T	49620640	C	T	49620640	3	4	470	1	0	0	0	0	1	0	0	0	8027	797	28	2	67	2	KCNG1	20	49620640	Missense_Mutation	SNP	C	TCGA-J8-A3YF-01A-12D-A23M-08		49620640	13404880	27	9638											
ZNF74	7625	broad.mit.edu	37	chr22	20760482	20760482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatccacacgggcgagaagCcctaccagtgcggctcctgc	12	16	0	1			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr22:20760482C>T	ENST00000400451.2	+	5	1673	c.1159C>T	c.(1159-1161)Ccc>Tcc	p.P387S	ZNF74_ENST00000356671.5_Missense_Mutation_p.P387S|ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000405993.1_Missense_Mutation_p.P355S|ZNF74_ENST00000357502.5_3'UTR	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	387					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GGGCGAGAAGCCCTACCAGTG	0.647																																						ENST00000400451.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1159-1161)Ccc>Tcc		zinc finger protein 74							46	59	54					22																	20760482		2203	4300	6503	SO:0001583	missense	7625				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr22:20760482C>T	X71623	CCDS42982.1, CCDS58794.1	22q11.2	2013-01-08	2006-05-12		ENSG00000185252	ENSG00000185252		"Zinc fingers, C2H2-type", "-"	13144	protein-coding gene	gene with protein product		194548	"zinc finger protein 74 (Cos52)"			1639391, 10591208	Standard	NM_003426		Approved	Cos52, Zfp520, ZNF520	uc010gsm.4	Q16587	OTTHUMG00000150687	ENST00000400451.2:c.1159C>T	22.37:g.20760482C>T	ENSP00000383301:p.Pro387Ser					ZNF74_ENST00000405993.1_Missense_Mutation_p.P355S|ZNF74_ENST00000356671.5_Missense_Mutation_p.P387S|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000403682.3_3'UTR	p.P387S	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		5	1673	+	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	387					B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07	Missense_Mutation	SNP	ENST00000400451.2	37	c.1159C>T	CCDS42982.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183043	0.78677	.	.	ENSG00000185252	ENST00000400451;ENST00000356671;ENST00000405993	T;T;T	0.16743	2.32;2.32;2.32	3.97	3.97	0.46021	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38492	N	0.001673	T	0.31009	0.0783	L	0.35644	1.08	0.36323	D	0.85835	D	0.89917	1.0	D	0.77004	0.989	T	0.29397	-1.0013	10	0.87932	D	0	-44.9289	14.3492	0.66688	0.0:1.0:0.0:0.0	.	387	Q16587	ZNF74_HUMAN	S	387;387;355	ENSP00000383301:P387S;ENSP00000349098:P387S;ENSP00000385855:P355S	ENSP00000349098:P387S	P	+	1	0	ZNF74	19090482	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	5.493000	0.66899	2.506000	0.84524	0.655000	0.94253	CCC		0.647	ZNF74-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319648.2	NM_003426		30	65	0	0	0	1	0	30	65					T	20760482	C	T	20760482	3	4	470	1	0	0	0	0	1	0	0	0	18124	739	26	2	1177	2	ZNF74	22	20760482	Missense_Mutation	SNP	C	TCGA-J8-A3YF-01A-12D-A23M-08		20760482	30544084	28	9639											
WNT7B	7477	broad.mit.edu	37	chr22	46345891	46345891	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtactggcactcgttgatGcccatctgcgccccctcccc	9	18	1	1			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr22:46345891G>A	ENST00000339464.4	-	2	581	c.207C>T	c.(205-207)ggC>ggT	p.G69G	WNT7B_ENST00000410058.1_Silent_p.G69G|WNT7B_ENST00000409496.3_Silent_p.G73G|WNT7B_ENST00000410089.1_Silent_p.G53G	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	69					activation of JUN kinase activity (GO:0007257)|anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular metabolic process (GO:0044237)|cellular response to retinoic acid (GO:0071300)|central nervous system vasculogenesis (GO:0022009)|chorio-allantoic fusion (GO:0060710)|developmental growth involved in morphogenesis (GO:0060560)|embryonic organ development (GO:0048568)|embryonic placenta morphogenesis (GO:0060669)|establishment or maintenance of polarity of embryonic epithelium (GO:0016332)|fibroblast proliferation (GO:0048144)|forebrain regionalization (GO:0021871)|homeostatic process (GO:0042592)|in utero embryonic development (GO:0001701)|inner medullary collecting duct development (GO:0072061)|lens fiber cell development (GO:0070307)|lobar bronchus development (GO:0060482)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung morphogenesis (GO:0060425)|lung-associated mesenchyme development (GO:0060484)|mammary gland epithelium development (GO:0061180)|metanephric collecting duct development (GO:0072205)|metanephric epithelium development (GO:0072207)|metanephric loop of Henle development (GO:0072236)|metanephros morphogenesis (GO:0003338)|negative regulation of smoothened signaling pathway (GO:0045879)|neuron differentiation (GO:0030182)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|outer medullary collecting duct development (GO:0072060)|oxygen homeostasis (GO:0032364)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of cell projection size (GO:0032536)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|response to glucocorticoid (GO:0051384)|smooth muscle cell differentiation (GO:0051145)|stem cell proliferation (GO:0072089)|synapse organization (GO:0050808)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		ACTCGTTGATGCCCATCTGCG	0.622																																						ENST00000339464.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19						c.(205-207)ggC>ggT		wingless-type MMTV integration site family, member 7B							57	56	56					22																	46345891		2203	4300	6503	SO:0001819	synonymous_variant	7477				activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity	g.chr22:46345891G>A	AF416743	CCDS33667.1	22q13	2013-02-28			ENSG00000188064	ENSG00000188064		"Wingless-type MMTV integration sites", "Endogenous ligands"	12787	protein-coding gene	gene with protein product		601967				8168088, 9284940, 11562755	Standard	NM_058238		Approved		uc003bgo.2	P56706	OTTHUMG00000154636	ENST00000339464.4:c.207C>T	22.37:g.46345891G>A						WNT7B_ENST00000409496.3_Silent_p.G73G|WNT7B_ENST00000410058.1_Silent_p.G69G|WNT7B_ENST00000410089.1_Silent_p.G53G	p.G69G	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)	2	581	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	69					B8A596|Q96Q12	Silent	SNP	ENST00000339464.4	37	c.207C>T	CCDS33667.1																																																																																				0.622	WNT7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336418.1	NM_058238		14	48	0	0	0	1	0	14	48					A	46345891	G	A	46345891	2	1	470	1	0	0	0	0	0	0	0	1	17392	1306	46	2		2	WNT7B	22	46345891	Silent	SNP	G	TCGA-J8-A3YF-01A-12D-A23M-08	25585409	46345891	4958675	29	9640											
SACM1L	22908	broad.mit.edu	37	chr3	45785079	45785079	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctggggagttgcaagcaTtggaacattttttatcattc	9	7	2	0			TCGA-J8-A3YG-01A-11D-A22Z-08	TCGA-J8-A3YG-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	832df42e-2582-466d-9df2-7869fcf12057	d2dc5691-bdd9-4dd7-8794-69fc54dad1cb	g.chr3:45785079T>C	ENST00000389061.5	+	20	1886	c.1682T>C	c.(1681-1683)aTt>aCt	p.I561T	SACM1L_ENST00000541314.1_Missense_Mutation_p.I500T|RN7SL145P_ENST00000469955.2_RNA|SACM1L_ENST00000418611.1_Missense_Mutation_p.I458T	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	561					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)	phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		GTTGCAAGCATTGGAACATTT	0.373																																						ENST00000389061.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23						c.(1681-1683)aTt>aCt		SAC1 suppressor of actin mutations 1-like (yeast)							162	160	161					3																	45785079		2203	4300	6503	SO:0001583	missense	22908					Golgi apparatus		g.chr3:45785079T>C	AB020658	CCDS33745.1	3p21.3	2010-03-11			ENSG00000211456	ENSG00000211456			17059	protein-coding gene	gene with protein product		606569				10048485, 11352561	Standard	NM_014016		Approved	SAC1, KIAA0851	uc003cos.2	Q9NTJ5	OTTHUMG00000156653	ENST00000389061.5:c.1682T>C	3.37:g.45785079T>C	ENSP00000373713:p.Ile561Thr					SACM1L_ENST00000541314.1_Missense_Mutation_p.I500T|SACM1L_ENST00000418611.1_Missense_Mutation_p.I458T	p.I561T	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)	20	1886	+			561					A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	Missense_Mutation	SNP	ENST00000389061.5	37	c.1682T>C	CCDS33745.1	.	.	.	.	.	.	.	.	.	.	T	13.82	2.350313	0.41599	.	.	ENSG00000211456	ENST00000418611;ENST00000389061;ENST00000541314	T;T;T	0.45668	0.91;0.9;0.89	5.78	5.78	0.91487	.	0.245967	0.40302	N	0.001131	T	0.34395	0.0896	L	0.31926	0.97	0.40602	D	0.981595	B;B;B	0.10296	0.002;0.003;0.002	B;B;B	0.11329	0.001;0.006;0.004	T	0.10965	-1.0607	10	0.25751	T	0.34	-5.2419	15.7875	0.78319	0.0:0.0:0.0:1.0	.	500;204;561	B4DK71;B3KX17;Q9NTJ5	.;.;SAC1_HUMAN	T	458;561;500	ENSP00000396387:I458T;ENSP00000373713:I561T;ENSP00000443373:I500T	ENSP00000373713:I561T	I	+	2	0	SACM1L	45760083	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	2.940000	0.49003	2.214000	0.71695	0.528000	0.53228	ATT		0.373	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345065.2	NM_014016		12	62	0	0	0	1	0	12	62					C	45785079	T	C	45785079	3	2	471	1	0	0	0	0	1	0	0	0	13803	1493	52	3	1760	3	SACM1L	3	45785079	Missense_Mutation	SNP	T	TCGA-J8-A3YG-01A-11D-A22Z-08		45785079	152237351	1	9641											
PLXND1	23129	broad.mit.edu	37	chr3	129289655	129289655	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggcagctgccccacggccgCgcccagggactcgttgaccg	15	17	0	1	rs140631068		TCGA-J8-A3YG-01A-11D-A22Z-08	TCGA-J8-A3YG-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	832df42e-2582-466d-9df2-7869fcf12057	d2dc5691-bdd9-4dd7-8794-69fc54dad1cb	g.chr3:129289655C>A	ENST00000324093.4	-	19	3902	c.3724G>T	c.(3724-3726)Gcg>Tcg	p.A1242S	PLXND1_ENST00000393239.1_Missense_Mutation_p.A1242S	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1242					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.A1242T(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CCCACGGCCGCGCCCAGGGAC	0.632																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	1	Substitution - Missense(1)	p.A1242T(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(3724-3726)Gcg>Tcg		plexin D1							131	142	138					3																	129289655		2203	4300	6503	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129289655C>A	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"Plexins"	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.3724G>T	3.37:g.129289655C>A	ENSP00000317128:p.Ala1242Ser					PLXND1_ENST00000324093.4_Missense_Mutation_p.A1242S	p.A1242S			Q9Y4D7	PLXD1_HUMAN			19	3902	-			1242					A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.3724G>T	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	C	0.186	-1.057488	0.01965	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.33438	1.45;1.41	4.78	-2.45	0.06481	Immunoglobulin-like fold (1);	0.482216	0.20400	N	0.093061	T	0.08670	0.0215	N	0.03324	-0.35	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36672	-0.9738	10	0.02654	T	1	.	7.4293	0.27118	0.1273:0.1403:0.0:0.7324	.	1242	Q9Y4D7	PLXD1_HUMAN	S	1242	ENSP00000317128:A1242S;ENSP00000376931:A1242S	ENSP00000317128:A1242S	A	-	1	0	PLXND1	130772345	0.999000	0.42202	0.000000	0.03702	0.011000	0.07611	0.585000	0.23879	-0.274000	0.09232	0.491000	0.48974	GCG		0.632	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		16	173	1	0	6.72482e-11	1	7.84563e-11	16	173					A	129289655	C	A	129289655	3	1	471	1	0	0	0	0	1	0	0	0	12127	768	27	4	2125	4	PLXND1	3	129289655	Missense_Mutation	SNP	C	TCGA-J8-A3YG-01A-11D-A22Z-08	83504576	129289655	68732775	2	9642											
FCHSD1	89848	broad.mit.edu	37	chr5	141026744	141026744	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aactgctgaggtggggtgggGgaaaatacaccaggctcctg	16	8	0	1			TCGA-J8-A3YG-01A-11D-A22Z-08	TCGA-J8-A3YG-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	832df42e-2582-466d-9df2-7869fcf12057	d2dc5691-bdd9-4dd7-8794-69fc54dad1cb	g.chr5:141026744G>C	ENST00000435817.2	-	10	932	c.882C>G	c.(880-882)tcC>tcG	p.S294S	FCHSD1_ENST00000522126.1_Silent_p.S218S|FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522783.1_Silent_p.S292S	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	294									FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGGGTGGGGGAAAATACAC	0.502																																						ENST00000435817.2																		FCHSD1/BRAF(2)	0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(880-882)tcC>tcG		FCH and double SH3 domains 1							38	42	41					5																	141026744		1900	4119	6019	SO:0001819	synonymous_variant	89848							g.chr5:141026744G>C	AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.882C>G	5.37:g.141026744G>C						FCHSD1_ENST00000522126.1_Silent_p.S218S|FCHSD1_ENST00000522783.1_Silent_p.S292S|FCHSD1_ENST00000523856.1_5'UTR	p.S294S	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		10	932	-			294					Q6UX75|Q86Y77|Q9NXX8	Silent	SNP	ENST00000435817.2	37	c.882C>G	CCDS47295.1																																																																																				0.502	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375282.2	NM_033449		4	3	0	0	0	1	0	4	3					C	141026744	G	C	141026744	2	2	471	1	0	0	0	0	0	0	0	1	5789	1219	43	4		4	FCHSD1	5	141026744	Silent	SNP	G	TCGA-J8-A3YG-01A-11D-A22Z-08		141026744	39888516	3	9643											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-J8-A3YG-01A-11D-A22Z-08	TCGA-J8-A3YG-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	832df42e-2582-466d-9df2-7869fcf12057	d2dc5691-bdd9-4dd7-8794-69fc54dad1cb	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		10	28	0	0	0	1	0	10	28					T	140453136	A	T	140453136	3	4	471	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-J8-A3YG-01A-11D-A22Z-08		140453136	18685527	4	9644											
TUSC5	286753	broad.mit.edu	37	chr17	1183415	1183415	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagaacaaggatgacaagacCctgaatctgtccaagaccct	9	11	1	5			TCGA-J8-A3YG-01A-11D-A22Z-08	TCGA-J8-A3YG-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	832df42e-2582-466d-9df2-7869fcf12057	d2dc5691-bdd9-4dd7-8794-69fc54dad1cb	g.chr17:1183415C>G	ENST00000333813.3	+	1	459	c.120C>G	c.(118-120)acC>acG	p.T40T		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	40					response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ATGACAAGACCCTGAATCTGT	0.612																																						ENST00000333813.3																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15						c.(118-120)acC>acG		tumor suppressor candidate 5							71	77	75					17																	1183415		1964	4145	6109	SO:0001819	synonymous_variant	286753				response to biotic stimulus	integral to membrane		g.chr17:1183415C>G	AB090231	CCDS42225.1	17p13.3	2009-10-16			ENSG00000184811	ENSG00000184811			29592	protein-coding gene	gene with protein product	"located at seventeen p thirteen point three 1", "interferon induced transmembrane protein domain containing 3"	612211				12660825	Standard	NM_172367		Approved	LOST1, IFITMD3	uc002fsi.1	Q8IXB3	OTTHUMG00000132196	ENST00000333813.3:c.120C>G	17.37:g.1183415C>G							p.T40T	NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	1	459	+			40					A6NMK4	Silent	SNP	ENST00000333813.3	37	c.120C>G	CCDS42225.1																																																																																				0.612	TUSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255249.1	NM_172367		22	67	0	0	0	1	0	22	67					G	1183415	C	G	1183415	2	3	471	1	0	0	0	0	0	0	0	1	16776	610	22	4		4	TUSC5	17	1183415	Silent	SNP	C	TCGA-J8-A3YG-01A-11D-A22Z-08		1183415	80011795	5	9645											
C19orf39	126074	broad.mit.edu	37	chr19	11485510	11485510	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgcggccctagaggcggcgGgggagggccaaggcccagtc	19	13	0	1			TCGA-J8-A3YG-01A-11D-A22Z-08	TCGA-J8-A3YG-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	832df42e-2582-466d-9df2-7869fcf12057	d2dc5691-bdd9-4dd7-8794-69fc54dad1cb	g.chr19:11485510G>C	ENST00000312423.2	+	1	150	c.91G>C	c.(91-93)Ggg>Cgg	p.G31R	CTD-2342J14.6_ENST00000590399.1_RNA	NM_175871.3	NP_787067.2	Q6NVH7	SWAP1_HUMAN	SWIM-type zinc finger 7 associated protein 1	31					ATP catabolic process (GO:0006200)|double-strand break repair via homologous recombination (GO:0000724)|protein stabilization (GO:0050821)	nucleus (GO:0005634)|Shu complex (GO:0097196)	ATPase activity (GO:0016887)|single-stranded DNA binding (GO:0003697)										AGAGGCGGCGGGGGAGGGCCA	0.627																																						ENST00000312423.2																			0											c.(91-93)Ggg>Cgg		SWIM-type zinc finger 7 associated protein 1							50	59	56					19																	11485510		2203	4300	6503	SO:0001583	missense	126074							g.chr19:11485510G>C	AK092438	CCDS12259.1	19p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000173928	ENSG00000173928			26638	protein-coding gene	gene with protein product	"zinc finger, SWIM-type containing 7 associated protein 1", "SWS1-associated protein 1"	614536	"chromosome 19 open reading frame 39"	C19orf39		21965664	Standard	NM_175871		Approved	FLJ35119, ZSWIM7AP1, SWS1AP1	uc002mrg.1	Q6NVH7		ENST00000312423.2:c.91G>C	19.37:g.11485510G>C	ENSP00000310008:p.Gly31Arg					CTD-2342J14.6_ENST00000590399.1_RNA	p.G31R	NM_175871.3	NP_787067.2	Q6NVH7	CS039_HUMAN			1	150	+			31					Q8NAM1	Missense_Mutation	SNP	ENST00000312423.2	37	c.91G>C	CCDS12259.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582910	0.86748	.	.	ENSG00000173928	ENST00000312423	T	0.77358	-1.09	5.44	3.31	0.37934	.	0.298863	0.26773	N	0.022568	T	0.69061	0.3069	L	0.48877	1.53	0.35125	D	0.767393	B	0.34161	0.439	B	0.39876	0.312	T	0.65446	-0.6166	10	0.05721	T	0.95	-13.8607	10.7253	0.46064	0.1579:0.0:0.8421:0.0	.	31	Q6NVH7	CS039_HUMAN	R	31	ENSP00000310008:G31R	ENSP00000310008:G31R	G	+	1	0	C19orf39	11346510	1.000000	0.71417	0.944000	0.38274	0.967000	0.64934	4.181000	0.58303	0.668000	0.31126	0.561000	0.74099	GGG		0.627	SWSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458789.1	NM_175871		19	80	0	0	0	1	0	19	80					C	11485510	G	C	11485510	3	2	471	1	0	0	0	0	1	0	0	0	1922	1232	43	4	93	4	C19orf39	19	11485510	Missense_Mutation	SNP	G	TCGA-J8-A3YG-01A-11D-A22Z-08		11485510	47643473	6	9646											
DEFB119	245932	broad.mit.edu	37	chr20	29976940	29976940	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggattgttaaataacgactaGgaacacagcaccgtttacga	9	8	0	0			TCGA-J8-A3YG-01A-11D-A22Z-08	TCGA-J8-A3YG-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	832df42e-2582-466d-9df2-7869fcf12057	d2dc5691-bdd9-4dd7-8794-69fc54dad1cb	g.chr20:29976940G>A	ENST00000376321.3	-	1	181				DEFB119_ENST00000376315.2_Missense_Mutation_p.P52L|DEFB119_ENST00000339144.3_Intron|DEFB119_ENST00000492344.1_Intron	NM_153289.3	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119						defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			ATAACGACTAGGAACACAGCA	0.448																																						ENST00000376315.2																			0				large_intestine(2)|lung(1)|prostate(1)	4						c.(154-156)cCt>cTt		defensin, beta 119							197	170	179					20																	29976940		2203	4300	6503	SO:0001627	intron_variant	245932				defense response to bacterium	extracellular region		g.chr20:29976940G>A	AA939044	CCDS13178.1, CCDS33455.1	20q11.21	2007-02-19	2003-10-06		ENSG00000180483	ENSG00000180483		"Defensins, beta"	18099	protein-coding gene	gene with protein product			"defensin, beta 120"	DEFB120		11854508	Standard	NM_153289		Approved	DEFB-19, DEFB-20	uc002wvu.2	Q8N690	OTTHUMG00000032172	ENST00000376321.3:c.61+1285C>T	20.37:g.29976940G>A						DEFB119_ENST00000376321.3_Intron|DEFB119_ENST00000339144.3_Intron|DEFB119_ENST00000492344.1_Intron	p.P52L	NM_001271209.1|NM_153323.4	NP_001258138.1|NP_697018.1	Q8N690	DB119_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	154	-	all_hematologic(12;0.158)		58					Q5GRG1|Q5JWP1|Q5TH42|Q8N689	Missense_Mutation	SNP	ENST00000376321.3	37	c.155C>T	CCDS13178.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059660	0.55325	.	.	ENSG00000180483	ENST00000376315	T	0.32515	1.45	3.64	-2.67	0.06059	.	1.726480	0.03263	N	0.183560	T	0.21186	0.0510	.	.	.	0.21064	N	0.999796	B	0.19935	0.04	B	0.17098	0.017	T	0.24548	-1.0157	9	0.33141	T	0.24	-0.4087	8.8657	0.35284	0.3207:0.0:0.6793:0.0	.	52	Q8N690-2	.	L	52	ENSP00000365492:P52L	ENSP00000365492:P52L	P	-	2	0	DEFB119	29440601	0.006000	0.16342	0.022000	0.16811	0.981000	0.71138	-0.552000	0.06020	-0.509000	0.06532	-0.253000	0.11424	CCT		0.448	DEFB119-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078514.1	NM_153289		15	55	0	0	0	1	0	15	55					A	29976940	G	A	29976940	1	1	471	0	1	0	0	0	0	0	0	0	4407	1000	35	2		2	DEFB119	20	29976940	Intron	SNP	G	TCGA-J8-A3YG-01A-11D-A22Z-08		29976940	33048580	7	9647											
CELSR1	9620	broad.mit.edu	37	chr22	46760065	46760065	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggggctctgctcacagtcggCcagcttctcccggagccggc	14	16	3	0	rs199624773		TCGA-J8-A3YG-01A-11D-A22Z-08	TCGA-J8-A3YG-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	832df42e-2582-466d-9df2-7869fcf12057	d2dc5691-bdd9-4dd7-8794-69fc54dad1cb	g.chr22:46760065C>A	ENST00000262738.3	-	34	8862	c.8863G>T	c.(8863-8865)Gcc>Tcc	p.A2955S		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2955					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)		TCACAGTCGGCCAGCTTCTCC	0.662																																						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.(8863-8865)Gcc>Tcc		cadherin, EGF LAG seven-pass G-type receptor 1							41	47	45					22																	46760065		2203	4298	6501	SO:0001583	missense	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.chr22:46760065C>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.8863G>T	22.37:g.46760065C>A	ENSP00000262738:p.Ala2955Ser						p.A2955S	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	8862	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	2955					O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.8863G>T	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	8.818	0.936855	0.18206	.	.	ENSG00000075275	ENST00000262738	T	0.67171	-0.25	4.85	3.76	0.43208	.	0.448042	0.17288	U	0.179775	T	0.47544	0.1451	L	0.31157	0.91	0.80722	D	1	B	0.25486	0.127	B	0.23852	0.049	T	0.36432	-0.9748	10	0.02654	T	1	.	10.5066	0.44836	0.3874:0.6126:0.0:0.0	.	2955	Q9NYQ6	CELR1_HUMAN	S	2955	ENSP00000262738:A2955S	ENSP00000262738:A2955S	A	-	1	0	CELSR1	45138729	1.000000	0.71417	0.991000	0.47740	0.762000	0.43233	2.118000	0.41949	2.211000	0.71520	0.563000	0.77884	GCC		0.662	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		15	50	1	0	1.99824e-07	1	1.99824e-07	15	50					A	46760065	C	A	46760065	3	1	471	1	0	0	0	0	1	0	0	0	3221	739	26	4	189	4	CELSR1	22	46760065	Missense_Mutation	SNP	C	TCGA-J8-A3YG-01A-11D-A22Z-08		46760065	4544501	8	9648											
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-													ctggttgggtttgcacttcaTcctcgaggcagcctcctcga					rs78182391		TCGA-J8-A3YG-01A-11D-A22Z-08	TCGA-J8-A3YG-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	832df42e-2582-466d-9df2-7869fcf12057	d2dc5691-bdd9-4dd7-8794-69fc54dad1cb	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			6	5						6	5	---	---	---	---	-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	471	1	0	1	0	1	0	0	0	0	10727	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-J8-A3YG-01A-11D-A22Z-08		51239296	104031264	9	9649											
LRP2	4036	broad.mit.edu	37	chr2	170022480	170022480	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagttccatctccacagtcaTccacaccattgcacacctca	3	18	3	0			TCGA-J8-A3YH-01A-11D-A22Z-08	TCGA-J8-A3YH-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f144c7-fd0e-4d92-baa8-028eb38f0d1f	6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6	g.chr2:170022480T>A	ENST00000263816.3	-	62	12005	c.11720A>T	c.(11719-11721)gAt>gTt	p.D3907V		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3907	LDL-receptor class A 35. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	TCCACAGTCATCCACACCATT	0.458																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(11719-11721)gAt>gTt		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						245	228	234					2																	170022480		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170022480T>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.11720A>T	2.37:g.170022480T>A	ENSP00000263816:p.Asp3907Val						p.D3907V	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	62	12005	-			3907			LDL-receptor class A 35.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.11720A>T	CCDS2232.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.5|21.5	4.164061|4.164061	0.78339|0.78339	.|.	.|.	ENSG00000081479|ENSG00000081479	ENST00000263816|ENST00000536293	D|.	0.95724|.	-3.79|.	6.06|6.06	6.06|6.06	0.98353|0.98353	Low-density lipoprotein (LDL) receptor class A, conserved site (1);|.	0.098400|.	0.64402|.	D|.	0.000002|.	T|T	0.75317|0.75317	0.3833|0.3833	M|M	0.75884|0.75884	2.315|2.315	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.76575|.	0.988|.	T|T	0.73742|0.73742	-0.3887|-0.3887	10|6	0.87932|0.34782	D|T	0|0.22	.|.	16.6245|16.6245	0.84952|0.84952	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	3907|.	P98164|.	LRP2_HUMAN|.	V|L	3907|572	ENSP00000263816:D3907V|.	ENSP00000263816:D3907V|ENSP00000438157:M572L	D|M	-|-	2|1	0|0	LRP2|LRP2	169730726|169730726	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.413000|0.413000	0.31143|0.31143	8.040000|8.040000	0.89188|0.89188	2.323000|2.323000	0.78572|0.78572	0.528000|0.528000	0.53228|0.53228	GAT|ATG		0.458	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		4	89	0	0	0	1	0	4	89					A	170022480	T	A	170022480	3	1	472	1	0	0	0	0	1	0	0	0	8956	1435	50	5	2319	5	LRP2	2	170022480	Missense_Mutation	SNP	T	TCGA-J8-A3YH-01A-11D-A22Z-08		170022480	73176893	1	9650											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-J8-A3YH-01A-11D-A22Z-08	TCGA-J8-A3YH-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f144c7-fd0e-4d92-baa8-028eb38f0d1f	6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		19	25	0	0	0	1	0	19	25					T	140453136	A	T	140453136	3	4	472	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-J8-A3YH-01A-11D-A22Z-08		140453136	18685527	2	9651											
PLEKHF2	79666	broad.mit.edu	37	chr8	96166895	96166895	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggatttgtgacttctgctAtgacctgctttctgctgggg	13	9	2	2			TCGA-J8-A3YH-01A-11D-A22Z-08	TCGA-J8-A3YH-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f144c7-fd0e-4d92-baa8-028eb38f0d1f	6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6	g.chr8:96166895A>G	ENST00000315367.3	+	2	864	c.623A>G	c.(622-624)tAt>tGt	p.Y208C	PLEKHF2_ENST00000519516.1_Missense_Mutation_p.Y208C	NM_024613.3	NP_078889.1	Q9H8W4	PKHF2_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 2	208					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)|transport vesicle (GO:0030133)	metal ion binding (GO:0046872)			breast(1)|large_intestine(1)|lung(1)|ovary(2)	5	Breast(36;3.18e-05)					GACTTCTGCTATGACCTGCTT	0.483																																						ENST00000315367.3																			0				breast(1)|large_intestine(1)|lung(1)|ovary(2)	5						c.(622-624)tAt>tGt		pleckstrin homology domain containing, family F (with FYVE domain) member 2							110	104	106					8																	96166895		2203	4300	6503	SO:0001583	missense	79666					transport vesicle	metal ion binding|protein binding	g.chr8:96166895A>G	AF434819	CCDS6267.1	8q22.1	2013-01-10				ENSG00000175895		"Zinc fingers, FYVE domain containing", "Pleckstrin homology (PH) domain containing"	20757	protein-coding gene	gene with protein product		615208					Standard	NM_024613		Approved	ZFYVE18, PHAFIN2, FLJ13187	uc003yhn.2	Q9H8W4		ENST00000315367.3:c.623A>G	8.37:g.96166895A>G	ENSP00000322373:p.Tyr208Cys					PLEKHF2_ENST00000519516.1_Missense_Mutation_p.Y208C	p.Y208C	NM_024613.3	NP_078889.1	Q9H8W4	PKHF2_HUMAN			2	864	+	Breast(36;3.18e-05)		208						Missense_Mutation	SNP	ENST00000315367.3	37	c.623A>G	CCDS6267.1	.	.	.	.	.	.	.	.	.	.	A	15.13	2.743467	0.49151	.	.	ENSG00000175895	ENST00000315367;ENST00000519516	T;T	0.49432	0.78;0.78	6.16	4.91	0.64330	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.173605	0.52532	D	0.000072	T	0.71333	0.3327	M	0.86502	2.82	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	T	0.77161	-0.2689	10	0.87932	D	0	-23.8455	13.8781	0.63665	0.8786:0.0:0.0:0.1214	.	208	Q9H8W4	PKHF2_HUMAN	C	208	ENSP00000322373:Y208C;ENSP00000427792:Y208C	ENSP00000322373:Y208C	Y	+	2	0	PLEKHF2	96236071	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.616000	0.61197	2.367000	0.80283	0.528000	0.53228	TAT		0.483	PLEKHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379666.1	NM_024613		6	57	0	0	0	1	0	6	57					G	96166895	A	G	96166895	3	3	472	1	0	0	0	0	1	0	0	0	12067	449	16	3	625	3	PLEKHF2	8	96166895	Missense_Mutation	SNP	A	TCGA-J8-A3YH-01A-11D-A22Z-08		96166895	50197127	3	9652											
DOCK8	81704	broad.mit.edu	37	chr9	414953	414953	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagctctgtgactttacaggTaatggcccttctgttttctt	8	10	3	1			TCGA-J8-A3YH-01A-11D-A22Z-08	TCGA-J8-A3YH-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f144c7-fd0e-4d92-baa8-028eb38f0d1f	6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6	g.chr9:414953T>A	ENST00000453981.1	+	29	3812		c.e29+2		DOCK8_ENST00000432829.2_Splice_Site|DOCK8_ENST00000469391.1_Splice_Site|DOCK8_ENST00000382329.1_Splice_Site			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8						blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ACTTTACAGGTAATGGCCCTT	0.478																																						ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.e29+2		dedicator of cytokinesis 8							153	138	143					9																	414953		2203	4300	6503	SO:0001630	splice_region_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:414953T>A	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.3700+2T>A	9.37:g.414953T>A						DOCK8_ENST00000382329.1_Splice_Site|DOCK8_ENST00000469391.1_Splice_Site|DOCK8_ENST00000453981.1_Splice_Site		NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	29	3812	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)						A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Splice_Site	SNP	ENST00000453981.1	37		CCDS6440.2	.	.	.	.	.	.	.	.	.	.	T	21.0	4.083404	0.76642	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5586	0.50764	0.0:0.0688:0.0:0.9312	.	.	.	.	.	-1	.	.	.	+	.	.	DOCK8	404953	1.000000	0.71417	0.999000	0.59377	0.821000	0.46438	6.118000	0.71583	2.311000	0.77944	0.533000	0.62120	.		0.478	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307	Intron	15	39	0	0	0	1	0	15	39					A	414953	T	A	414953	5	1	472	1	0	0	0	0	0	0	1	0	4693	1652	57	5	3816	5	DOCK8	9	414953	Splice_Site	SNP	T	TCGA-J8-A3YH-01A-11D-A22Z-08		414953	140798478	4	9653											
ARHGAP22	58504	broad.mit.edu	37	chr10	49791003	49791003	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acatgcacttctcacctgggGcttgatctcatctttgtcct	7	13	3	1			TCGA-J8-A3YH-01A-11D-A22Z-08	TCGA-J8-A3YH-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f144c7-fd0e-4d92-baa8-028eb38f0d1f	6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6	g.chr10:49791003G>C	ENST00000249601.4	-	2	525	c.229C>G	c.(229-231)Ccc>Gcc	p.P77A	ARHGAP22_ENST00000417912.2_Missense_Mutation_p.P77A|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.P83A|ARHGAP22_ENST00000491108.1_5'UTR	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	77	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTCACCTGGGGCTTGATCTCA	0.567																																						ENST00000249601.4																			0				endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(229-231)Ccc>Gcc		Rho GTPase activating protein 22							104	90	95					10																	49791003		2203	4300	6503	SO:0001583	missense	58504				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity	g.chr10:49791003G>C	AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.229C>G	10.37:g.49791003G>C	ENSP00000249601:p.Pro77Ala					ARHGAP22_ENST00000417912.2_Missense_Mutation_p.P77A|ARHGAP22_ENST00000491108.1_5'UTR|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.P83A	p.P77A	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN			2	525	-			77			PH.		A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Missense_Mutation	SNP	ENST00000249601.4	37	c.229C>G	CCDS7227.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.317138	0.40996	.	.	ENSG00000128805	ENST00000249601;ENST00000435790;ENST00000417912	T;T;T	0.35973	1.28;1.28;1.28	5.28	4.36	0.52297	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.077089	0.51477	N	0.000094	T	0.30230	0.0758	L	0.47190	1.495	0.37301	D	0.908693	B;B;B;B	0.27910	0.103;0.193;0.0;0.193	B;B;B;B	0.28305	0.057;0.088;0.001;0.088	T	0.19484	-1.0304	10	0.30078	T	0.28	.	9.7577	0.40513	0.0:0.1531:0.6881:0.1588	.	83;77;77;77	B4DED8;A6NDI7;Q7Z5H3-2;Q7Z5H3	.;.;.;RHG22_HUMAN	A	77;83;77	ENSP00000249601:P77A;ENSP00000416701:P83A;ENSP00000412461:P77A	ENSP00000249601:P77A	P	-	1	0	ARHGAP22	49461009	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.193000	0.50997	1.216000	0.43427	0.655000	0.94253	CCC		0.567	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226		3	68	0	0	0	1	0	3	68					C	49791003	G	C	49791003	3	2	472	1	0	0	0	0	1	0	0	0	872	1203	42	4	1903	4	ARHGAP22	10	49791003	Missense_Mutation	SNP	G	TCGA-J8-A3YH-01A-11D-A22Z-08		49791003	85743744	5	9654											
ZFHX3	463	broad.mit.edu	37	chr16	72831847	72831866	+	Frame_Shift_Del	DEL	TTGAAGGGCTCTCTTTAACT	TTGAAGGGCTCTCTTTAACT	-													ggctgaccggttgctgattcTtgaagggctctctttaactt					rs374104332		TCGA-J8-A3YH-01A-11D-A22Z-08	TCGA-J8-A3YH-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f144c7-fd0e-4d92-baa8-028eb38f0d1f	6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6	g.chr16:72831847_72831866delTTGAAGGGCTCTCTTTAACT	ENST00000268489.5	-	9	5387_5406	c.4715_4734delAGTTAAAGAGAGCCCTTCAA	c.(4714-4734)aagttaaagagagcccttcaafs	p.KLKRALQ1572fs	ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.KLKRALQ658fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1572					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)				TTGCTGATTCTTGAAGGGCTCTCTTTAACTTATGCAGGTG	0.473																																						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.(4714-4734)afs		zinc finger homeobox 3																																				SO:0001589	frameshift_variant	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.chr16:72831847_72831866delTTGAAGGGCTCTCTTTAACT	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.4715_4734delAGTTAAAGAGAGCCCTTCAA	16.37:g.72831847_72831866delTTGAAGGGCTCTCTTTAACT	ENSP00000268489:p.Lys1572fs					ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.KLKRALQ658fs	p.KLKRALQ1572fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	5387_5406	-		Ovarian(137;0.13)	1572					D3DWS8|O15101|Q13719	Frame_Shift_Del	DEL	ENST00000268489.5	37	c.4715_4734delAGTTAAAGAGAGCCCTTCAA	CCDS10908.1																																																																																				0.473	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		10	34						10	34	---	---	---	---	-	72831866	TTGAAGGGCTCTCTTTAACT	-	72831847	7	5	472	1	0	1	0	1	0	0	0	0	17631	1606	56	0	6385	0	ZFHX3	16	72831847	Frame_Shift_Del	DEL	TTGAAGGGCTCTCTTTAACT	TCGA-J8-A3YH-01A-11D-A22Z-08		72831847	17522906	6	9655											
SLFN12	55106	broad.mit.edu	37	chr17	33738580	33738580	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatcatactggcagcttgtcAtgccttcagggctcaagtag	10	10	4	0			TCGA-J8-A3YH-01A-11D-A22Z-08	TCGA-J8-A3YH-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f144c7-fd0e-4d92-baa8-028eb38f0d1f	6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6	g.chr17:33738580A>T	ENST00000394562.1	-	6	2037	c.1514T>A	c.(1513-1515)aTg>aAg	p.M505K	SLFN12_ENST00000452764.3_Missense_Mutation_p.M505K|SLFN12_ENST00000460530.1_5'UTR|RP11-686D22.8_ENST00000587012.1_RNA|SLFN12_ENST00000304905.5_Missense_Mutation_p.M505K			Q8IYM2	SLN12_HUMAN	schlafen family member 12	505							ATP binding (GO:0005524)			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCAGCTTGTCATGCCTTCAGG	0.393																																						ENST00000394562.1																			0				breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(1513-1515)aTg>aAg		schlafen family member 12							86	84	85					17																	33738580		2203	4300	6503	SO:0001583	missense	55106						ATP binding	g.chr17:33738580A>T	AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.1514T>A	17.37:g.33738580A>T	ENSP00000378063:p.Met505Lys					SLFN12_ENST00000304905.5_Missense_Mutation_p.M505K|SLFN12_ENST00000452764.3_Missense_Mutation_p.M505K|SLFN12_ENST00000460530.1_5'UTR	p.M505K			Q8IYM2	SLN12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	2037	-		Ovarian(249;0.17)	505					A8K711|Q9NP47	Missense_Mutation	SNP	ENST00000394562.1	37	c.1514T>A	CCDS11295.1	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.045874	0.00398	.	.	ENSG00000172123	ENST00000394562;ENST00000304905;ENST00000452764	T;T;T	0.03212	4.01;4.01;4.01	3.05	-2.94	0.05581	.	.	.	.	.	T	0.00815	0.0027	N	0.00413	-1.525	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42531	-0.9446	9	0.05620	T	0.96	.	3.3843	0.07265	0.1809:0.356:0.0:0.4631	.	505	Q8IYM2	SLN12_HUMAN	K	505	ENSP00000378063:M505K;ENSP00000302077:M505K;ENSP00000394903:M505K	ENSP00000302077:M505K	M	-	2	0	SLFN12	30762693	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-4.006000	0.00315	-0.862000	0.04089	-1.400000	0.01143	ATG		0.393	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256491.1	NM_018042		4	78	0	0	0	1	0	4	78					T	33738580	A	T	33738580	3	4	472	1	0	0	0	0	1	0	0	0	14734	217	8	5	226	5	SLFN12	17	33738580	Missense_Mutation	SNP	A	TCGA-J8-A3YH-01A-11D-A22Z-08		33738580	47456630	7	9656											
MAN2B1	4125	broad.mit.edu	37	chr19	12777364	12777364	+	Frame_Shift_Del	DEL	C	C	-													aggccccactcacctcgtatCccccggcccgagcaccggca							TCGA-J8-A3YH-01A-11D-A22Z-08	TCGA-J8-A3YH-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f144c7-fd0e-4d92-baa8-028eb38f0d1f	6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6	g.chr19:12777364delC	ENST00000456935.2	-	1	192	c.152delG	c.(151-153)ggafs	p.G51fs	WDR83_ENST00000418543.3_5'Flank|CTD-2192J16.24_ENST00000597961.1_Intron|MAN2B1_ENST00000221363.4_Frame_Shift_Del_p.G51fs	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	51					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CACCTCGTATCCCCCGGCCCG	0.637																																						ENST00000456935.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(151-153)gafs		mannosidase, alpha, class 2B, member 1							6	8	7					19																	12777364		2156	4226	6382	SO:0001589	frameshift_variant	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12777364delC		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.152delG	19.37:g.12777364delC	ENSP00000395473:p.Gly51fs					CTD-2192J16.24_ENST00000597961.1_Intron|MAN2B1_ENST00000221363.4_Frame_Shift_Del_p.G51fs	p.G51fs	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN			1	192	-			51					G5E928|O15330|Q16680|Q93094|Q9BW13	Frame_Shift_Del	DEL	ENST00000456935.2	37	c.152delG	CCDS32919.1																																																																																				0.637	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			2	4						2	4	---	---	---	---	-	12777364	C	-	12777364	7	5	472	1	0	1	0	1	0	0	0	0	9216	855	30	0	2979	0	MAN2B1	19	12777364	Frame_Shift_Del	DEL	C	TCGA-J8-A3YH-01A-11D-A22Z-08		12777364	46351619	8	9657											
FBXO17	115290	broad.mit.edu	37	chr19	39433360	39433360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaagatacgtagcggatgCccttgccaaagttggtgaag	12	8	0	2			TCGA-J8-A3YH-01A-11D-A22Z-08	TCGA-J8-A3YH-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f144c7-fd0e-4d92-baa8-028eb38f0d1f	6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6	g.chr19:39433360C>T	ENST00000292852.4	-	6	1066	c.725G>A	c.(724-726)gGc>gAc	p.G242D	FBXO17_ENST00000595329.1_Missense_Mutation_p.G242D|CTC-360G5.8_ENST00000599996.1_Silent_p.G146G|SARS2_ENST00000448145.2_Missense_Mutation_p.G77D	NM_024907.5	NP_079183.4	Q96EF6	FBX17_HUMAN	F-box protein 17	242	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	7	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GTAGCGGATGCCCTTGCCAAA	0.592																																						ENST00000292852.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	7						c.(724-726)gGc>gAc		F-box protein 17							100	88	92					19																	39433360		2203	4300	6503	SO:0001583	missense	115290							g.chr19:39433360C>T	AF386743	CCDS12526.1	19q13.2	2010-07-02	2004-06-15	2004-06-16		ENSG00000269190		"F-boxes /  "other""	18754	protein-coding gene	gene with protein product	"F-box only protein 26"	609094	"F-box only protein 17"	FBXO26			Standard	NM_148169		Approved	FBG4, FLJ25205, MGC9379, FLJ11798, Fbx17		Q96EF6		ENST00000292852.4:c.725G>A	19.37:g.39433360C>T	ENSP00000292852:p.Gly242Asp					FBXO17_ENST00000595329.1_Missense_Mutation_p.G242D|SARS2_ENST00000448145.2_Missense_Mutation_p.G77D|CTC-360G5.8_ENST00000599996.1_Silent_p.G146G	p.G242D	NM_024907.5	NP_079183.4			Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		6	1066	-	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)							Q96LQ4	Missense_Mutation	SNP	ENST00000292852.4	37	c.725G>A	CCDS12526.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.248277	0.59103	.	.	ENSG00000104835	ENST00000448145;ENST00000392076;ENST00000292852	T;T	0.80738	-1.41;-1.41	4.73	4.73	0.59995	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.000000	0.64402	D	0.000006	D	0.91064	0.7188	M	0.91038	3.17	.	.	.	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93685	0.7002	9	0.87932	D	0	.	13.3986	0.60870	0.0:1.0:0.0:0.0	.	77;242	E7EX87;Q96EF6	.;FBX17_HUMAN	D	77;251;242	ENSP00000399330:G77D;ENSP00000292852:G242D	ENSP00000292852:G242D	G	-	2	0	FBXO17	44125200	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.776000	0.55356	2.615000	0.88500	0.555000	0.69702	GGC		0.592	FBXO17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463273.1	NM_024907		4	66	0	0	0	1	0	4	66					T	39433360	C	T	39433360	3	4	472	1	0	0	0	0	1	0	0	0	5730	739	26	2	115	2	FBXO17	19	39433360	Missense_Mutation	SNP	C	TCGA-J8-A3YH-01A-11D-A22Z-08	26655996	39433360	19695623	9	9658											
SFRS17A	8227	broad.mit.edu	37	chrX	1712648	1712648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttctggcctgcctggacgGcaagaccatcaagctcagcg	11	13	3	1			TCGA-J8-A3YH-01A-11D-A22Z-08	TCGA-J8-A3YH-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f144c7-fd0e-4d92-baa8-028eb38f0d1f	6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6	g.chrX:1712648G>A	ENST00000313871.3	+	2	489	c.293G>A	c.(292-294)gGc>gAc	p.G98D	AKAP17A_ENST00000381261.3_Missense_Mutation_p.G98D	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	98	PKA-RI and PKA-RII subunit binding domain.				B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						TGCCTGGACGGCAAGACCATC	0.592																																						ENST00000313871.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						c.(292-294)gGc>gAc		A kinase (PRKA) anchor protein 17A							168	173	171					X																	1712648		2203	4296	6499	SO:0001583	missense	8227				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chrX:1712648G>A	L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"Pseudoautosomal regions / PAR1", "A-kinase anchor proteins"	18783	protein-coding gene	gene with protein product		312095, 465000	"chromosome X and Y open reading frame 3", "splicing factor, arginine/serine-rich 17A"	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.293G>A	X.37:g.1712648G>A	ENSP00000324827:p.Gly98Asp					AKAP17A_ENST00000381261.3_Missense_Mutation_p.G98D	p.G98D	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN			2	489	+			98			PKA-RI and PKA-RII subunit binding domain.		Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Missense_Mutation	SNP	ENST00000313871.3	37	c.293G>A	CCDS14116.1	.	.	.	.	.	.	.	.	.	.	g	12.07	1.828584	0.32329	.	.	ENSG00000197976	ENST00000313871;ENST00000381261	T;T	0.28454	1.61;1.61	2.17	2.17	0.27698	.	0.000000	0.64402	U	0.000004	T	0.51109	0.1655	.	.	.	0.22479	N	0.999068	D;D	0.76494	0.996;0.999	D;D	0.72338	0.929;0.977	T	0.43572	-0.9383	9	0.66056	D	0.02	-32.4769	12.7152	0.57111	0.0:0.0:1.0:0.0	.	98;98	Q02040-3;Q02040	.;AK17A_HUMAN	D	98	ENSP00000324827:G98D;ENSP00000370660:G98D	ENSP00000324827:G98D	G	+	2	0	AKAP17A	1672648	1.000000	0.71417	0.010000	0.14722	0.383000	0.30230	7.091000	0.76923	0.877000	0.35895	0.100000	0.15512	GGC		0.592	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2	NM_005088		4	146	0	0	0	1	0	4	146					A	1712648	G	A	1712648	3	1	472	1	0	0	0	0	1	0	0	0	14173	1203	42	2	295	2	SFRS17A	23	1712648	Missense_Mutation	SNP	G	TCGA-J8-A3YH-01A-11D-A22Z-08		1712648	153557912	10	9659											
GSPT2	23708	broad.mit.edu	37	chrX	51487526	51487526	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaacgagacaagggtaaaacAgtcgaagtgggtcgtgccta	14	7	0	1			TCGA-J8-A3YH-01A-11D-A22Z-08	TCGA-J8-A3YH-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f144c7-fd0e-4d92-baa8-028eb38f0d1f	6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6	g.chrX:51487526A>T	ENST00000340438.4	+	1	1046	c.804A>T	c.(802-804)acA>acT	p.T268T		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	268	G2. {ECO:0000255|PROSITE- ProRule:PRU01059}.|tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					AGGGTAAAACAGTCGAAGTGG	0.413																																						ENST00000340438.4																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20						c.(802-804)acA>acT		G1 to S phase transition 2							120	114	116					X																	51487526		2203	4300	6503	SO:0001819	synonymous_variant	23708				cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding	g.chrX:51487526A>T	AI285711	CCDS14336.1	Xp11.22	2008-05-14			ENSG00000189369	ENSG00000189369			4622	protein-coding gene	gene with protein product		300418				10575220	Standard	NM_018094		Approved	eRF3b, FLJ10441	uc004dpl.3	Q8IYD1	OTTHUMG00000021538	ENST00000340438.4:c.804A>T	X.37:g.51487526A>T							p.T268T	NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN			1	1046	+	Ovarian(276;0.236)		268					Q9H909|Q9NVY0|Q9NY44	Silent	SNP	ENST00000340438.4	37	c.804A>T	CCDS14336.1																																																																																				0.413	GSPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056587.1			3	40	0	0	0	1	0	3	40					T	51487526	A	T	51487526	2	4	472	1	0	0	0	0	0	0	0	1	6827	175	7	5		5	GSPT2	23	51487526	Silent	SNP	A	TCGA-J8-A3YH-01A-11D-A22Z-08	49774878	51487526	103783034	11	9660											
ESPN	83715	broad.mit.edu	37	chr1	6512140	6512140	+	Frame_Shift_Del	DEL	A	A	-													gctgaagatgcaggaggaggAggagcagaggcggaaggtgg							TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr1:6512140delA	ENST00000377828.1	+	10	2477	c.2309delA	c.(2308-2310)gagfs	p.E771fs	ESPN_ENST00000475228.1_3'UTR|ESPN_ENST00000461727.1_Frame_Shift_Del_p.E205fs|ESPN_ENST00000416731.1_Frame_Shift_Del_p.E205fs	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	771	Glu-rich.				locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		CAGGAGGAGGAGGAGCAGAGG	0.682																																						ENST00000377828.1																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17						c.(2308-2310)ggfs		espin							14	18	16					1																	6512140		2180	4264	6444	SO:0001589	frameshift_variant	83715				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding	g.chr1:6512140delA	AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"Ankyrin repeat domain containing"	13281	protein-coding gene	gene with protein product		606351	"deafness, autosomal recessive 36"	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.2309delA	1.37:g.6512140delA	ENSP00000367059:p.Glu771fs					ESPN_ENST00000461727.1_Frame_Shift_Del_p.E205fs|ESPN_ENST00000475228.1_3'UTR|ESPN_ENST00000416731.1_Frame_Shift_Del_p.E205fs	p.E771fs	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)	10	2477	+	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)	771			Glu-rich.		Q6XYB2|Q9H0A2|Q9Y329	Frame_Shift_Del	DEL	ENST00000377828.1	37	c.2309delA	CCDS70.1																																																																																				0.682	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001887.3	NM_031475		2	4						2	4	---	---	---	---	-	6512140	A	-	6512140	7	5	473	1	0	1	0	1	0	0	0	0	5254	304	11	0	2347	0	ESPN	1	6512140	Frame_Shift_Del	DEL	A	TCGA-J8-A42S-01A-11D-A23M-08		6512140	242738481	1	9661											
KIAA0467	23334	broad.mit.edu	37	chr1	43894060	43894060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggggtttgcctcatgcaCccccaagtcctggtcctctc	9	16	2	0			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr1:43894060C>T	ENST00000562955.1	+	27	3898	c.3898C>T	c.(3898-3900)Ccc>Tcc	p.P1300S	SZT2_ENST00000372442.1_Missense_Mutation_p.P458S	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1357					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						GCCTCATGCACCCCCAAGTCC	0.557																																						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.(3898-3900)Ccc>Tcc		seizure threshold 2 homolog (mouse)							116	94	101					1																	43894060		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43894060C>T	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.3898C>T	1.37:g.43894060C>T	ENSP00000457168:p.Pro1300Ser					SZT2_ENST00000372442.1_Missense_Mutation_p.P458S	p.P1300S	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			27	3898	+			1357					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.3898C>T	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	9.946	1.218863	0.22373	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.21	5.21	0.72293	.	0.285236	0.35739	N	0.003004	T	0.35008	0.0917	N	0.22421	0.69	0.23023	N	0.99841	D	0.65815	0.995	P	0.58266	0.836	T	0.16100	-1.0414	9	0.06625	T	0.88	.	12.9641	0.58473	0.0:0.9152:0.0:0.0847	.	1300	Q5T011-5	.	S	458	.	ENSP00000361519:P458S	P	+	1	0	SZT2	43666647	0.626000	0.27120	1.000000	0.80357	0.968000	0.65278	1.336000	0.33850	2.606000	0.88127	0.655000	0.94253	CCC		0.557	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		24	43	0	0	0	1	0	24	43					T	43894060	C	T	43894060	3	4	473	1	0	0	0	0	1	0	0	0	8178	507	18	2	1414	2	KIAA0467	1	43894060	Missense_Mutation	SNP	C	TCGA-J8-A42S-01A-11D-A23M-08	37381920	43894060	205356561	2	9662											
TMEM198	130612	broad.mit.edu	37	chr2	220412578	220412578	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggccccgcccactcaccAccctggccaccgccgtgact	9	22	1	1			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr2:220412578A>C	ENST00000344458.2	+	4	1102	c.517A>C	c.(517-519)Acc>Ccc	p.T173P	RP11-256I23.1_ENST00000596829.1_RNA|MIR3132_ENST00000581997.1_RNA|TMEM198_ENST00000373883.3_Missense_Mutation_p.T173P			Q66K66	TM198_HUMAN	transmembrane protein 198	173	Leu-rich.				multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CCCACTCACCACCCTGGCCAC	0.697																																						ENST00000344458.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(517-519)Acc>Ccc		transmembrane protein 198							10	11	11					2																	220412578		2165	4265	6430	SO:0001583	missense	130612					integral to membrane		g.chr2:220412578A>C	BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.517A>C	2.37:g.220412578A>C	ENSP00000343507:p.Thr173Pro					TMEM198_ENST00000373883.3_Missense_Mutation_p.T173P	p.T173P			Q66K66	TM198_HUMAN		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	4	1102	+		Renal(207;0.0376)	173			Leu-rich.			Missense_Mutation	SNP	ENST00000344458.2	37	c.517A>C	CCDS33385.1	.	.	.	.	.	.	.	.	.	.	A	17.59	3.426537	0.62733	.	.	ENSG00000188760	ENST00000344458;ENST00000421791;ENST00000373883	.	.	.	3.83	3.83	0.44106	.	0.048787	0.85682	D	0.000000	T	0.52141	0.1716	L	0.51422	1.61	0.31599	N	0.652939	D	0.61697	0.99	P	0.56434	0.798	T	0.61182	-0.7114	9	0.87932	D	0	-16.8248	7.6951	0.28590	0.9011:0.0:0.0989:0.0	.	173	Q66K66	TM198_HUMAN	P	173	.	ENSP00000343507:T173P	T	+	1	0	TMEM198	220120822	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	2.938000	0.48987	1.735000	0.51646	0.482000	0.46254	ACC		0.697	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	NM_001005209		6	13	0	0	0	1	0	6	13					C	220412578	A	C	220412578	3	2	473	1	0	0	0	0	1	0	0	0	16116	159	6	5	523	5	TMEM198	2	220412578	Missense_Mutation	SNP	A	TCGA-J8-A42S-01A-11D-A23M-08		220412578	22786795	3	9663											
KIT	3815	broad.mit.edu	37	chr4	55573401	55573401	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggatctatatgaacagaaccTtcactgataaatgggaagat	9	6	2	4			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr4:55573401T>A	ENST00000288135.5	+	6	1160	c.1063T>A	c.(1063-1065)Ttc>Atc	p.F355I		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	355	Ig-like C2-type 4.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GAACAGAACCTTCACTGATAA	0.393		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													ENST00000288135.5		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"Mis, O"	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"L, M, O, E"		"GIST, epithelioma"	"GIST, AML, TGCT, mastocytosis, mucosal melanoma"		0				NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(1063-1065)Ttc>Atc		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						98	92	94					4																	55573401		2203	4300	6503	SO:0001583	missense	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55573401T>A	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1063T>A	4.37:g.55573401T>A	ENSP00000288135:p.Phe355Ile						p.F355I	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	6	1160	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		355			Ig-like C2-type 4.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.1063T>A	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	T	5.670	0.308280	0.10733	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	T;T	0.48201	0.82;0.82	5.84	0.00477	0.14060	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.196070	0.05898	N	0.629430	T	0.32224	0.0822	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.0;0.002	T	0.22034	-1.0228	10	0.30078	T	0.28	.	7.1975	0.25862	0.0:0.2025:0.1211:0.6764	.	355;355	P10721-2;P10721	.;KIT_HUMAN	I	355	ENSP00000288135:F355I;ENSP00000390987:F355I	ENSP00000288135:F355I	F	+	1	0	KIT	55268158	0.000000	0.05858	0.001000	0.08648	0.374000	0.29953	0.289000	0.18957	0.113000	0.18004	0.402000	0.26972	TTC		0.393	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			10	45	0	0	0	1	0	10	45					A	55573401	T	A	55573401	3	1	473	1	0	0	0	0	1	0	0	0	8329	1609	56	5	1085	5	KIT	4	55573401	Missense_Mutation	SNP	T	TCGA-J8-A42S-01A-11D-A23M-08		55573401	135580875	4	9664			1	16		3	2	21	N	T_G	1.227511e-05
KIT	3815	broad.mit.edu	37	chr4	55573419	55573419	+	Missense_Mutation	SNP	G	G	C													ccttcactgataaatgggaaGattatcccaagtctgagaat							TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr4:55573419G>C	ENST00000288135.5	+	6	1178	c.1081G>C	c.(1081-1083)Gat>Cat	p.D361H		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	361	Ig-like C2-type 4.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D361N(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TAAATGGGAAGATTATCCCAA	0.408		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													ENST00000288135.5		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"Mis, O"	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"L, M, O, E"		"GIST, epithelioma"	"GIST, AML, TGCT, mastocytosis, mucosal melanoma"		1	Substitution - Missense(1)	p.D361N(1)	endometrium(1)	NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(1081-1083)Gat>Cat		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						93	88	90					4																	55573419		2203	4300	6503	SO:0001583	missense	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55573419G>C	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1081G>C	4.37:g.55573419G>C	ENSP00000288135:p.Asp361His						p.D361H	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	6	1178	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		361			Ig-like C2-type 4.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.1081G>C	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	G	1.640	-0.516825	0.04200	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	T;T	0.53423	0.62;0.62	5.66	-1.29	0.09288	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.443560	0.21002	N	0.081854	T	0.19406	0.0466	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.26467	-1.0102	10	0.09338	T	0.73	.	7.6707	0.28457	0.2521:0.4771:0.2708:0.0	.	361;361	P10721-2;P10721	.;KIT_HUMAN	H	361	ENSP00000288135:D361H;ENSP00000390987:D361H	ENSP00000288135:D361H	D	+	1	0	KIT	55268176	0.029000	0.19370	0.002000	0.10522	0.550000	0.35303	0.154000	0.16343	-0.018000	0.14079	-0.479000	0.04858	GAT		0.408	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			10	43	0	0	0	1	0	10	43					C	55573419	G	C	55573419	3	2	473	1	0	0	0	0	1	0	0	0	8329	942	33	4	1103	4	KIT	4	55573419	Missense_Mutation	SNP	G	TCGA-J8-A42S-01A-11D-A23M-08	18	55573419	135580857	5	9665	53	2	1	16		3	2	21	N	T_G	1.227511e-05
KIT	3815	broad.mit.edu	37	chr4	55573421	55573421	+	Missense_Mutation	SNP	T	T	G													ttcactgataaatgggaagaTtatcccaagtctgagaatga							TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr4:55573421T>G	ENST00000288135.5	+	6	1180	c.1083T>G	c.(1081-1083)gaT>gaG	p.D361E		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	361	Ig-like C2-type 4.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AATGGGAAGATTATCCCAAGT	0.403		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													ENST00000288135.5		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"Mis, O"	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"L, M, O, E"		"GIST, epithelioma"	"GIST, AML, TGCT, mastocytosis, mucosal melanoma"		0				NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(1081-1083)gaT>gaG		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						93	88	89					4																	55573421		2203	4300	6503	SO:0001583	missense	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55573421T>G	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1083T>G	4.37:g.55573421T>G	ENSP00000288135:p.Asp361Glu						p.D361E	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	6	1180	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		361			Ig-like C2-type 4.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.1083T>G	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	T	8.972	0.973239	0.18736	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	T;T	0.53640	0.61;0.61	5.84	0.663	0.17885	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.443560	0.21002	N	0.081854	T	0.28995	0.0720	L	0.50333	1.59	0.09310	N	1	B;B	0.18166	0.026;0.008	B;B	0.18561	0.022;0.011	T	0.24835	-1.0149	10	0.06236	T	0.91	.	1.6949	0.02859	0.1348:0.1543:0.1409:0.57	.	361;361	P10721-2;P10721	.;KIT_HUMAN	E	361	ENSP00000288135:D361E;ENSP00000390987:D361E	ENSP00000288135:D361E	D	+	3	2	KIT	55268178	0.482000	0.25948	0.013000	0.15412	0.642000	0.38348	0.554000	0.23407	-0.085000	0.12573	0.402000	0.26972	GAT		0.403	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			10	41	0	0	0	1	0	10	41					G	55573421	T	G	55573421	3	3	473	1	0	0	0	0	1	0	0	0	8329	1490	52	5	1105	5	KIT	4	55573421	Missense_Mutation	SNP	T	TCGA-J8-A42S-01A-11D-A23M-08	2	55573421	135580855	6	9666	53	2	1	16		3	2	21	N	T_G	1.227511e-05
TMEM184A	202915	broad.mit.edu	37	chr7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC													ctcccgccggagccgccgctINSggggtgggtgccgggcctgg					rs3837151|rs3779607	byFrequency	TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)cccagc>cccGGCagc	p.389_390PS>PGS	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389			S -> G (in dbSNP:rs3779607). {ECO:0000269|PubMed:15489334}.		germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(1165-1170)ccgcgg>ccGGCgcgg		transmembrane protein 184A				1912,2170		535,842,664						-3.6	0.0		dbSNP_132	17	3872,4214		1028,1816,1199	no	coding	TMEM184A	NM_001097620.1		1563,2658,1863	A1A1,A1R,RR		47.8852,46.8398,47.5345				5784,6384				SO:0001652	inframe_insertion	202915					integral to membrane		g.chr7:1586662_1586663insGCC		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1167_1168insGGC	7.37:g.1586662_1586663insGCC	ENSP00000297477:p.Pro389_Ser390insGly						p.389_390PR>PAR	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	9	1483_1484	-		Ovarian(82;0.0253)	389					Q8TBQ6	In_Frame_Ins	INS	ENST00000297477.5	37	c.1167_1168insGGC	CCDS43537.1																																																																																				0.703	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		8	56						8	56	---	---	---	---	GCC	1586663	-	GCC	1586662	7	5	473	1	0	1	1	0	0	0	0	0	16101	1580	55	0	77	0	TMEM184A	7	1586662	In_Frame_Ins	INS	-	TCGA-J8-A42S-01A-11D-A23M-08		1586662	157552001	7	9667											
DFNA5	1687	broad.mit.edu	37	chr7	24749943	24749943	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaaagaccagggggtccagGtagacagagtcaattctctt	12	9	2	3			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr7:24749943G>A	ENST00000342947.3	-	6	1187	c.762C>T	c.(760-762)taC>taT	p.Y254Y	DFNA5_ENST00000419307.1_Silent_p.Y90Y|DFNA5_ENST00000409970.1_Silent_p.Y90Y|DFNA5_ENST00000409775.3_Silent_p.Y254Y|DFNA5_ENST00000545231.1_Silent_p.Y90Y|DFNA5_ENST00000559637.1_5'UTR	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	254					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						GGGGGTCCAGGTAGACAGAGT	0.473																																					GBM(78;184 1250 20134 20900 23600)	ENST00000545231.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						c.(268-270)taC>taT		deafness, autosomal dominant 5							119	115	116					7																	24749943		2203	4300	6503	SO:0001819	synonymous_variant	1687				sensory perception of sound			g.chr7:24749943G>A	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.762C>T	7.37:g.24749943G>A						DFNA5_ENST00000409970.1_Silent_p.Y90Y|DFNA5_ENST00000419307.1_Silent_p.Y90Y|DFNA5_ENST00000342947.3_Silent_p.Y254Y|DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000409775.3_Silent_p.Y254Y	p.Y90Y			O60443	DFNA5_HUMAN			8	1420	-			254					A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Silent	SNP	ENST00000342947.3	37	c.270C>T	CCDS5389.1	.	.	.	.	.	.	.	.	.	.	G	9.854	1.194479	0.22037	.	.	ENSG00000105928	ENST00000415480;ENST00000446822	.	.	.	5.47	2.67	0.31697	.	.	.	.	.	T	0.38957	0.1060	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37641	-0.9697	5	0.87932	D	0	0.0012	4.1773	0.10358	0.2517:0.1784:0.5699:0.0	.	.	.	.	I	43;79	.	ENSP00000414090:T205I	T	-	2	0	DFNA5	24716468	0.001000	0.12720	0.002000	0.10522	0.259000	0.26198	0.441000	0.21611	0.659000	0.30945	0.563000	0.77884	ACC		0.473	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403		15	87	0	0	0	1	0	15	87					A	24749943	G	A	24749943	2	1	473	1	0	0	0	0	0	0	0	1	4454	1256	44	2		2	DFNA5	7	24749943	Silent	SNP	G	TCGA-J8-A42S-01A-11D-A23M-08	23163281	24749943	134388720	8	9668											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		25	43	0	0	0	1	0	25	43					T	140453136	A	T	140453136	3	4	473	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-J8-A42S-01A-11D-A23M-08	115703193	140453136	18685527	9	9669											
TAF2	6873	broad.mit.edu	37	chr8	120744381	120744381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaagactgagagtggagcgCttgccgctggatgcatactc	13	9	0	2			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr8:120744381C>T	ENST00000378164.2	-	26	3681	c.3383G>A	c.(3382-3384)aGc>aAc	p.S1128N		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	1128					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GAGTGGAGCGCTTGCCGCTGG	0.443																																						ENST00000378164.2																			0				NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49						c.(3382-3384)aGc>aAc		TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa							225	217	220					8																	120744381		2203	4300	6503	SO:0001583	missense	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120744381C>T	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.3383G>A	8.37:g.120744381C>T	ENSP00000367406:p.Ser1128Asn						p.S1128N	NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		26	3681	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		1128					B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	37	c.3383G>A	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	C	7.923	0.739053	0.15642	.	.	ENSG00000064313	ENST00000378164;ENST00000529653	T;T	0.35236	2.29;1.32	5.89	5.01	0.66863	.	0.527919	0.21129	N	0.079690	T	0.21509	0.0518	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.13737	-1.0498	10	0.35671	T	0.21	-0.6704	14.3398	0.66617	0.0:0.1545:0.8455:0.0	.	1128	Q6P1X5	TAF2_HUMAN	N	1128;304	ENSP00000367406:S1128N;ENSP00000436750:S304N	ENSP00000367406:S1128N	S	-	2	0	TAF2	120813562	0.636000	0.27207	0.009000	0.14445	0.004000	0.04260	3.563000	0.53784	1.486000	0.48398	-0.321000	0.08615	AGC		0.443	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		28	97	0	0	0	1	0	28	97					T	120744381	C	T	120744381	3	4	473	1	0	0	0	0	1	0	0	0	15521	797	28	2	220	2	TAF2	8	120744381	Missense_Mutation	SNP	C	TCGA-J8-A42S-01A-11D-A23M-08		120744381	25619641	10	9670											
CCDC109A	90550	broad.mit.edu	37	chr10	74451955	74451956	+	In_Frame_Ins	INS	-	-	GGGGCG													cctgctgctcctctcctctcINSggggcggcggcggcgggggc							TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr10:74451955_74451956insGGGGCG	ENST00000373053.3	+	1	67_68	c.46_47insGGGGCG	c.(46-48)cgg>cGGGGCGgg	p.22_23insGG	MCU_ENST00000536019.1_5'Flank|MCU_ENST00000357157.6_In_Frame_Ins_p.22_23insGG	NM_138357.2	NP_612366.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	22					calcium ion transmembrane import into mitochondrion (GO:0036444)|calcium-mediated signaling (GO:0019722)|glucose homeostasis (GO:0042593)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein complex oligomerization (GO:0035786)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|uniplex complex (GO:1990246)	calcium channel activity (GO:0005262)|uniporter activity (GO:0015292)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						CCTCTCCTCTCGGggcggcggc	0.767																																						ENST00000373053.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						c.(46-48)ggg>GGGGCGggg		mitochondrial calcium uniporter				14,2726		6,2,1362						4.4	1.0			3	64,6098		13,38,3030	no	coding	MCU	NM_138357.1		19,40,4392	A1A1,A1R,RR		1.0386,0.5109,0.8762				78,8824				SO:0001652	inframe_insertion	90550				elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding	g.chr10:74451955_74451956insGGGGCG	BC034235	CCDS7317.1, CCDS59218.1, CCDS59219.1	10q22.2	2011-06-23	2011-06-23	2011-06-23	ENSG00000156026	ENSG00000156026			23526	protein-coding gene	gene with protein product		614197	"coiled-coil domain containing 109A"	C10orf42, CCDC109A		21685886, 21685888	Standard	NM_138357		Approved	FLJ46135	uc001jtc.3	Q8NE86	OTTHUMG00000018443	ENST00000373053.3:c.47_52dupGGGGCG	10.37:g.74451956_74451961dupGGGGCG	ENSP00000362144:p.Gly24_Gly25dup					MCU_ENST00000357157.6_In_Frame_Ins_p.16_16G>GAG	p.16_16G>GAG	NM_138357.1	NP_612366.1	Q8NE86	MCU_HUMAN			1	67_68	+			16					B2RDF3|B3KXV7|Q96FL3	In_Frame_Ins	INS	ENST00000373053.3	37	c.46_47insGGGGCG	CCDS7317.1																																																																																				0.767	MCU-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048594.1	NM_138357		3	5						3	5	---	---	---	---	GGGGCG	74451956	-	GGGGCG	74451955	7	5	473	1	0	1	1	0	0	0	0	0	2744	875	31	0	48	0	CCDC109A	10	74451955	In_Frame_Ins	INS	-	TCGA-J8-A42S-01A-11D-A23M-08		74451955	61082792	11	9671											
CARD16	114769	broad.mit.edu	37	chr11	104915191	104915191	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgatgcaaatttggcatgCctgtgcccctttcggaataa	10	9	0	1			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr11:104915191C>A	ENST00000375706.2	-	2	219	c.202G>T	c.(202-204)Gca>Tca	p.A68S	CASP1_ENST00000593315.1_Intron|CASP1_ENST00000594519.1_Intron|CARD16_ENST00000525374.1_Missense_Mutation_p.A68S|CASP1_ENST00000415981.2_Intron|CARD16_ENST00000375704.3_Missense_Mutation_p.A68S|CASP1_ENST00000598974.1_Intron	NM_001017534.1	NP_001017534.1	Q5EG05	CAR16_HUMAN	caspase recruitment domain family, member 16	68	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				regulation of apoptotic process (GO:0042981)		cysteine-type endopeptidase inhibitor activity (GO:0004869)			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						ATTTGGCATGCCTGTGCCCCT	0.463																																						ENST00000375706.2																			0				endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						c.(202-204)Gca>Tca		caspase recruitment domain family, member 16							167	152	157					11																	104915191		2202	4296	6498	SO:0001583	missense	114769							g.chr11:104915191C>A		CCDS31661.1, CCDS41705.1	11q23	2008-09-15				ENSG00000204397			33701	protein-coding gene	gene with protein product		615680				11432859, 11536016	Standard	NM_052889		Approved	COP1, COP, PSEUDO-ICE		Q5EG05		ENST00000375706.2:c.202G>T	11.37:g.104915191C>A	ENSP00000364858:p.Ala68Ser					CARD16_ENST00000525374.1_Missense_Mutation_p.A68S|CASP1_ENST00000415981.2_Intron|CARD16_ENST00000375704.3_Missense_Mutation_p.A68S|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Intron	p.A68S	NM_001017534.1	NP_001017534.1					2	219	-								Q96RJ9	Missense_Mutation	SNP	ENST00000375706.2	37	c.202G>T	CCDS31661.1	.	.	.	.	.	.	.	.	.	.	.	15.22	2.769454	0.49680	.	.	ENSG00000204397	ENST00000375706;ENST00000375704;ENST00000525374;ENST00000528513	T;T;T;T	0.62941	1.53;1.53;1.53;-0.01	3.34	3.34	0.38264	DEATH-like (2);Caspase Recruitment (3);	0.117723	0.56097	U	0.000023	T	0.73241	0.3562	M	0.66560	2.04	0.09310	N	1	D;D	0.89917	0.977;1.0	D;D	0.79784	0.966;0.993	T	0.61734	-0.7002	10	0.41790	T	0.15	.	10.3278	0.43805	0.0:1.0:0.0:0.0	.	68;68	Q5EG05;Q5EG05-2	CAR16_HUMAN;.	S	68;68;68;52	ENSP00000364858:A68S;ENSP00000364856:A68S;ENSP00000433700:A68S;ENSP00000432485:A52S	ENSP00000364856:A68S	A	-	1	0	CARD16	104420401	0.029000	0.19370	0.019000	0.16419	0.004000	0.04260	0.652000	0.24888	1.869000	0.54173	0.484000	0.47621	GCA		0.463	CARD16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388147.1			7	204	1	0	8.12818e-05	1	8.86711e-05	7	204					A	104915191	C	A	104915191	3	1	473	1	0	0	0	0	1	0	0	0	2647	739	26	4	423	4	CARD16	11	104915191	Missense_Mutation	SNP	C	TCGA-J8-A42S-01A-11D-A23M-08		104915191	30091325	12	9672											
GOLGA3	2802	broad.mit.edu	37	chr12	133359042	133359042	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttgtttgactcctcaaggCgttttatcttcttcctaaag	6	10	4	1	rs374689565		TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr12:133359042C>A	ENST00000450791.2	-	16	3488	c.3305G>T	c.(3304-3306)cGc>cTc	p.R1102L	GOLGA3_ENST00000204726.3_Missense_Mutation_p.R1102L|GOLGA3_ENST00000456883.2_Missense_Mutation_p.R1102L			Q08378	GOGA3_HUMAN	golgin A3	1102					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CTCCTCAAGGCGTTTTATCTT	0.478																																						ENST00000204726.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3304-3306)cGc>cTc		golgin A3							139	138	139					12																	133359042		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133359042C>A	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.3305G>T	12.37:g.133359042C>A	ENSP00000410378:p.Arg1102Leu					GOLGA3_ENST00000450791.2_Missense_Mutation_p.R1102L|GOLGA3_ENST00000456883.2_Missense_Mutation_p.R1102L	p.R1102L	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	17	3863	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	1102					A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.3305G>T	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.654099	0.47362	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883	T;T;T	0.34472	1.36;1.36;1.38	6.07	2.26	0.28386	.	0.298149	0.41712	D	0.000840	T	0.46347	0.1388	M	0.65498	2.005	0.80722	D	1	D;D	0.60160	0.987;0.98	P;P	0.56398	0.797;0.764	T	0.33033	-0.9884	10	0.54805	T	0.06	.	7.5227	0.27637	0.1188:0.6938:0.0:0.1875	.	1102;1102	Q08378-2;Q08378	.;GOGA3_HUMAN	L	1102	ENSP00000204726:R1102L;ENSP00000410378:R1102L;ENSP00000409303:R1102L	ENSP00000204726:R1102L	R	-	2	0	GOLGA3	131869115	0.997000	0.39634	0.983000	0.44433	0.003000	0.03518	1.163000	0.31798	0.155000	0.19261	-0.857000	0.03018	CGC		0.478	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		4	160	1	0	1	1	1	4	160					A	133359042	C	A	133359042	3	1	473	1	0	0	0	0	1	0	0	0	6554	768	27	4	1223	4	GOLGA3	12	133359042	Missense_Mutation	SNP	C	TCGA-J8-A42S-01A-11D-A23M-08		133359042	492853	13	9673											
DNAH3	55567	broad.mit.edu	37	chr16	21011623	21011623	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatccagcttggacatgatgAtatcctgggtctgattggct	12	8	1	3			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr16:21011623A>T	ENST00000261383.3	-	43	6343	c.6344T>A	c.(6343-6345)aTc>aAc	p.I2115N	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2115	AAA 3. {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)		GGACATGATGATATCCTGGGT	0.522																																						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.(6343-6345)aTc>aAc		dynein, axonemal, heavy chain 3							174	136	149					16																	21011623		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21011623A>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.6344T>A	16.37:g.21011623A>T	ENSP00000261383:p.Ile2115Asn					DNAH3_ENST00000415178.1_3'UTR	p.I2115N	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	43	6343	-			2115			AAA 3 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.6344T>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.694337	0.88830	.	.	ENSG00000158486	ENST00000261383	T	0.37058	1.22	5.7	5.7	0.88788	ATPase, AAA+ type, core (1);	0.061993	0.64402	D	0.000007	T	0.61615	0.2361	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65903	-0.6055	10	0.87932	D	0	.	15.953	0.79859	1.0:0.0:0.0:0.0	.	2115	Q8TD57	DYH3_HUMAN	N	2115	ENSP00000261383:I2115N	ENSP00000261383:I2115N	I	-	2	0	DNAH3	20919124	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.307000	0.78920	2.174000	0.68829	0.383000	0.25322	ATC		0.522	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		9	70	0	0	0	1	0	9	70					T	21011623	A	T	21011623	3	4	473	1	0	0	0	0	1	0	0	0	4603	333	12	5	6085	5	DNAH3	16	21011623	Missense_Mutation	SNP	A	TCGA-J8-A42S-01A-11D-A23M-08		21011623	69343130	14	9674											
ATXN2L	11273	broad.mit.edu	37	chr16	28836960	28836961	+	Frame_Shift_Ins	INS	-	-	A													acaggtgtttgaaggcgtctINSacaacaattccagaatgctg							TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr16:28836960_28836961insA	ENST00000336783.4	+	3	519_520	c.352_353insA	c.(352-354)tacfs	p.Y118fs	ATXN2L_ENST00000325215.6_Frame_Shift_Ins_p.Y118fs|ATXN2L_ENST00000395547.2_Frame_Shift_Ins_p.Y118fs|ATXN2L_ENST00000340394.8_Frame_Shift_Ins_p.Y118fs|ATXN2L_ENST00000570200.1_Frame_Shift_Ins_p.Y118fs|ATXN2L_ENST00000564304.1_Frame_Shift_Ins_p.Y118fs|ATXN2L_ENST00000382686.4_Frame_Shift_Ins_p.Y118fs	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	118	Interaction with MPL.				regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TGAAGGCGTCTACAACAATTCC	0.426																																						ENST00000336783.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(352-354)caafs		ataxin 2-like																																				SO:0001589	frameshift_variant	11273					membrane		g.chr16:28836960_28836961insA		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.353dupA	16.37:g.28836961_28836961dupA	ENSP00000338718:p.Tyr118fs					ATXN2L_ENST00000564304.1_Frame_Shift_Ins_p.Q118fs|ATXN2L_ENST00000382686.4_Frame_Shift_Ins_p.Q118fs|ATXN2L_ENST00000340394.8_Frame_Shift_Ins_p.Q118fs|ATXN2L_ENST00000325215.6_Frame_Shift_Ins_p.Q118fs|ATXN2L_ENST00000570200.1_Frame_Shift_Ins_p.Q118fs|ATXN2L_ENST00000395547.2_Frame_Shift_Ins_p.Q118fs	p.Q118fs	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN			3	519_520	+			118			Interaction with MPL.		A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Frame_Shift_Ins	INS	ENST00000336783.4	37	c.352_353insA	CCDS10641.1																																																																																				0.426	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		10	176						10	176	---	---	---	---	A	28836961	-	A	28836960	7	5	473	1	0	1	1	0	0	0	0	0	1212	1522	53	0	362	0	ATXN2L	16	28836960	Frame_Shift_Ins	INS	-	TCGA-J8-A42S-01A-11D-A23M-08	7825337	28836960	61517793	15	9675											
RFWD3	55159	broad.mit.edu	37	chr16	74683055	74683055	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggggagggtcttgcctccaTcgatacatgtaacttcttgc	11	10	2	0			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr16:74683055T>A	ENST00000361070.4	-	4	864	c.767A>T	c.(766-768)gAt>gTt	p.D256V	RFWD3_ENST00000571750.1_Missense_Mutation_p.D256V	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	256					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						CTTGCCTCCATCGATACATGT	0.363																																						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.(766-768)gAt>gTt		ring finger and WD repeat domain 3							96	89	91					16																	74683055		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.chr16:74683055T>A	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.767A>T	16.37:g.74683055T>A	ENSP00000354361:p.Asp256Val					RFWD3_ENST00000571750.1_Missense_Mutation_p.D256V	p.D256V	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN			4	864	-			256					A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Missense_Mutation	SNP	ENST00000361070.4	37	c.767A>T	CCDS32486.1	.	.	.	.	.	.	.	.	.	.	T	8.965	0.971516	0.18736	.	.	ENSG00000168411	ENST00000361070	T	0.19250	2.16	5.46	-4.09	0.03951	.	2.519730	0.01043	N	0.004332	T	0.14227	0.0344	N	0.22421	0.69	0.19300	N	0.99998	B	0.15141	0.012	B	0.14023	0.01	T	0.33163	-0.9879	10	0.48119	T	0.1	-13.4392	6.7401	0.23431	0.0:0.1612:0.2822:0.5565	.	256	Q6PCD5	RFWD3_HUMAN	V	256	ENSP00000354361:D256V	ENSP00000354361:D256V	D	-	2	0	RFWD3	73240556	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.151000	0.10175	-0.455000	0.07054	-0.242000	0.12053	GAT		0.363	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2	NM_018124		5	70	0	0	0	1	0	5	70					A	74683055	T	A	74683055	3	1	473	1	0	0	0	0	1	0	0	0	13261	1435	50	5	1597	5	RFWD3	16	74683055	Missense_Mutation	SNP	T	TCGA-J8-A42S-01A-11D-A23M-08	45846095	74683055	15671698	16	9676											
CDH15	1013	broad.mit.edu	37	chr16	89253860	89253860	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgcggtgtacaatctgacCctgcaggtggcggacatgtc	14	11	1	1			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr16:89253860C>T	ENST00000289746.2	+	6	752	c.687C>T	c.(685-687)acC>acT	p.T229T		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	229	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		ACAATCTGACCCTGCAGGTGG	0.622																																						ENST00000289746.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(685-687)acC>acT		cadherin 15, type 1, M-cadherin (myotubule)							96	63	74					16																	89253860		2198	4300	6498	SO:0001819	synonymous_variant	1013				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	g.chr16:89253860C>T	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"Cadherins / Major cadherins"	1754	protein-coding gene	gene with protein product		114019	"cadherin 15, M-cadherin (myotubule)"	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.687C>T	16.37:g.89253860C>T							p.T229T	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0261)	6	752	+			229			Cadherin 2.			Silent	SNP	ENST00000289746.2	37	c.687C>T	CCDS10976.1																																																																																				0.622	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933		3	20	0	0	0	1	0	3	20					T	89253860	C	T	89253860	2	4	473	1	0	0	0	0	0	0	0	1	3100	610	22	2		2	CDH15	16	89253860	Silent	SNP	C	TCGA-J8-A42S-01A-11D-A23M-08	14570805	89253860	1100893	17	9677											
DNAH17	8632	broad.mit.edu	37	chr17	76440797	76440797	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tctccttctcgggggcttccGactccaccagctttttccag	8	16	2	0			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr17:76440797G>C	ENST00000585328.1	-	71	11526	c.11402C>G	c.(11401-11403)tCg>tGg	p.S3801W	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.S3792W	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3792					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(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGGGGCTTCCGACTCCACCAG	0.587																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(11374-11376)tCg>tGg		dynein, axonemal, heavy chain 17							75	57	63					17																	76440797		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76440797G>C	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.11402C>G	17.37:g.76440797G>C	ENSP00000465516:p.Ser3801Trp					DNAH17_ENST00000585328.1_Missense_Mutation_p.S3801W|DNAH17_ENST00000586052.1_5'UTR	p.S3792W					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		71	11499	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.11375C>G		.	.	.	.	.	.	.	.	.	.	G	20.3	3.971015	0.74246	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.10099	2.91	4.99	4.99	0.66335	.	0.786984	0.11388	N	0.569118	T	0.53883	0.1824	H	0.99182	4.46	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.67130	-0.5748	10	0.72032	D	0.01	.	13.6215	0.62140	0.0772:0.0:0.9228:0.0	.	3801	E7EUM8	.	W	3801;3792	ENSP00000374490:S3792W	ENSP00000300671:S3801W	S	-	2	0	DNAH17	73952392	1.000000	0.71417	0.962000	0.40283	0.929000	0.56500	4.466000	0.60148	2.309000	0.77851	0.561000	0.74099	TCG		0.587	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		7	27	0	0	0	1	0	7	27					C	76440797	G	C	76440797	3	2	473	1	0	0	0	0	1	0	0	0	4601	1059	37	4	2015	4	DNAH17	17	76440797	Missense_Mutation	SNP	G	TCGA-J8-A42S-01A-11D-A23M-08		76440797	4754413	18	9678											
CPNE1	8904	broad.mit.edu	37	chr20	34220525	34220525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgtcatagattccaaagcGtagcttctggactgtctcaa	8	9	3	1			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr20:34220525G>A	ENST00000317619.3	-	5	617	c.223C>T	c.(223-225)Cgc>Tgc	p.R75C	CPNE1_ENST00000397442.1_Missense_Mutation_p.R75C|RP1-309K20.6_ENST00000541176.2_3'UTR|CPNE1_ENST00000397443.1_Missense_Mutation_p.R75C|CPNE1_ENST00000397446.1_Missense_Mutation_p.R75C|CPNE1_ENST00000317677.5_Missense_Mutation_p.R80C|CPNE1_ENST00000397445.1_Missense_Mutation_p.R75C|CPNE1_ENST00000352393.4_Missense_Mutation_p.R75C			Q99829	CPNE1_HUMAN	copine I	75	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid metabolic process (GO:0006629)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			ATTCCAAAGCGTAGCTTCTGG	0.542																																						ENST00000317619.3																			0				breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(223-225)Cgc>Tgc		copine I							167	150	156					20																	34220525		2203	4300	6503	SO:0001583	missense	8904				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity	g.chr20:34220525G>A	U83246	CCDS13260.1, CCDS46595.1	20q11.22	2009-06-01			ENSG00000214078	ENSG00000214078			2314	protein-coding gene	gene with protein product		604205				9430674	Standard	NM_152925		Approved	CPN1	uc002xdm.3	Q99829	OTTHUMG00000032356	ENST00000317619.3:c.223C>T	20.37:g.34220525G>A	ENSP00000326126:p.Arg75Cys					CPNE1_ENST00000397442.1_Missense_Mutation_p.R75C|CPNE1_ENST00000397446.1_Missense_Mutation_p.R75C|CPNE1_ENST00000352393.4_Missense_Mutation_p.R75C|CPNE1_ENST00000317677.5_Missense_Mutation_p.R80C|CPNE1_ENST00000397445.1_Missense_Mutation_p.R75C|CPNE1_ENST00000397443.1_Missense_Mutation_p.R75C	p.R75C			Q99829	CPNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		5	617	-	Lung NSC(9;0.0053)|all_lung(11;0.00785)		75			C2 1.		E1P5Q4|Q6IBL3|Q9H243|Q9NTZ7	Missense_Mutation	SNP	ENST00000317619.3	37	c.223C>T	CCDS13260.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.370026	0.61624	.	.	ENSG00000214078	ENST00000352393;ENST00000317677;ENST00000317619;ENST00000397446;ENST00000397445;ENST00000397443;ENST00000397442;ENST00000437340;ENST00000430570;ENST00000412056;ENST00000414664;ENST00000416778;ENST00000439806;ENST00000420363;ENST00000434795;ENST00000440240;ENST00000458038;ENST00000437100;ENST00000414711	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49	5.26	4.32	0.51571	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.261295	0.30723	U	0.009014	T	0.79787	0.4506	M	0.78637	2.42	0.35125	D	0.767438	D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;0.998	D;P;D;D;D	0.70487	0.93;0.892;0.93;0.969;0.91	D	0.83917	0.0299	10	0.87932	D	0	-3.5927	4.1036	0.10026	0.0831:0.135:0.5838:0.1981	.	80;75;75;75;79	B0QZ18;E7ENH5;A6PVH9;Q99829;Q59EI4	.;.;.;CPNE1_HUMAN;.	C	75;80;75;75;75;75;75;75;75;75;75;75;75;75;75;75;75;75;75	ENSP00000336945:R75C;ENSP00000317257:R80C;ENSP00000326126:R75C;ENSP00000380588:R75C;ENSP00000380587:R75C;ENSP00000380585:R75C;ENSP00000380584:R75C;ENSP00000415597:R75C;ENSP00000390626:R75C;ENSP00000416962:R75C;ENSP00000404355:R75C;ENSP00000389662:R75C;ENSP00000387434:R75C;ENSP00000401915:R75C;ENSP00000409794:R75C;ENSP00000397638:R75C;ENSP00000390141:R75C;ENSP00000391483:R75C;ENSP00000409955:R75C	ENSP00000326126:R75C	R	-	1	0	CPNE1	33683939	0.852000	0.29690	1.000000	0.80357	0.997000	0.91878	2.031000	0.41117	1.456000	0.47831	0.655000	0.94253	CGC		0.542	CPNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078909.3	NM_152930		13	145	0	0	0	1	0	13	145					A	34220525	G	A	34220525	3	1	473	1	0	0	0	0	1	0	0	0	3811	1145	40	1	1446	1	CPNE1	20	34220525	Missense_Mutation	SNP	G	TCGA-J8-A42S-01A-11D-A23M-08		34220525	28804995	19	9679											
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-													ctggttgggtttgcacttcaTcctcgaggcagcctcctcga					rs78182391		TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			6	13						6	13	---	---	---	---	-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	473	1	0	1	0	1	0	0	0	0	10727	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-J8-A42S-01A-11D-A23M-08		51239296	104031264	20	9680											
LYST	1130	broad.mit.edu	37	chr1	235952076	235952076	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggatcccagtgaaattataTgaatacatccttcttctatg	6	8	2	2			TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr1:235952076T>C	ENST00000389794.3	-	13	4787	c.4613A>G	c.(4612-4614)cAt>cGt	p.H1538R	LYST_ENST00000389793.2_Missense_Mutation_p.H1538R|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1538					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGAAATTATATGAATACATCC	0.413																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(4612-4614)cAt>cGt		lysosomal trafficking regulator							98	87	91					1																	235952076		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235952076T>C	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.4613A>G	1.37:g.235952076T>C	ENSP00000374444:p.His1538Arg					LYST_ENST00000389793.2_Missense_Mutation_p.H1538R|LYST_ENST00000536965.1_3'UTR	p.H1538R			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		13	4787	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1538					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.4613A>G	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.229723	0.79688	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.78481	-1.18;-1.18	5.4	5.4	0.78164	.	4.311150	0.00465	N	0.000114	D	0.82582	0.5068	M	0.71581	2.175	0.80722	D	1	P	0.52577	0.954	B	0.43575	0.424	T	0.72023	-0.4415	10	0.87932	D	0	.	13.9927	0.64376	0.0:0.0:0.0:1.0	.	1538	Q99698	LYST_HUMAN	R	1538	ENSP00000374444:H1538R;ENSP00000374443:H1538R	ENSP00000374443:H1538R	H	-	2	0	LYST	234018699	1.000000	0.71417	0.857000	0.33713	0.996000	0.88848	7.105000	0.77031	2.045000	0.60652	0.460000	0.39030	CAT		0.413	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			3	25	0	0	0	1	0	3	25					C	235952076	T	C	235952076	3	2	474	1	0	0	0	0	1	0	0	0	9128	1464	51	3	6956	3	LYST	1	235952076	Missense_Mutation	SNP	T	TCGA-J8-A4HW-01A-11D-A257-08		235952076	13298545	1	9681											
DYNC2LI1	51626	broad.mit.edu	37	chr2	44021826	44021826	+	Intron	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actggaatccttagtcccatTtatagttaatgataacatca	5	8	1	1	rs9309107	byFrequency	TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr2:44021826T>A	ENST00000260605.8	+	6	607				DYNC2LI1_ENST00000406852.3_Missense_Mutation_p.F184Y|DYNC2LI1_ENST00000398823.2_3'UTR|DYNC2LI1_ENST00000443170.3_Intron|DYNC2LI1_ENST00000605786.1_Intron|DYNC2LI1_ENST00000489222.2_Intron	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)	apical part of cell (GO:0045177)|axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytosol (GO:0005829)|intraciliary transport particle (GO:0030990)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|primary cilium (GO:0072372)	motor activity (GO:0003774)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TTAGTCCCATTTATAGTTAAT	0.343													A|||	2262	0.451677	0.7262	0.4654	5008	,	,		18661	0.1895		0.326	False		,,,				2504	0.4703					ENST00000406852.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26						c.(550-552)tTt>tAt		dynein, cytoplasmic 2, light intermediate chain 1		A	,TYR/PHE,	2915,1491	456.1+/-351.2	990,935,278	92	99	96		,551,	0.9	0.0	2	dbSNP_119	96	2828,5772	675.0+/-403.2	471,1886,1943	yes	intron,missense,intron	DYNC2LI1	NM_001193464.1,NM_015522.3,NM_016008.3	,22,	1461,2821,2221	AA,AT,TT		32.8837,33.8402,44.1565	,,	,184/202,	44021826	5743,7263	2203	4300	6503	SO:0001627	intron_variant	51626					apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity	g.chr2:44021826T>A		CCDS1813.1, CCDS46270.1, CCDS62903.1	2p25.1-p24.1	2008-02-05			ENSG00000138036	ENSG00000138036		"Cytoplasmic dyneins"	24595	protein-coding gene	gene with protein product						10810093, 11907264	Standard	NM_016008		Approved	D2LIC, LIC3, CGI-60, DKFZP564A033	uc002rtl.3	Q8TCX1	OTTHUMG00000128656	ENST00000260605.8:c.507+44T>A	2.37:g.44021826T>A						DYNC2LI1_ENST00000260605.8_Intron|DYNC2LI1_ENST00000443170.3_Intron|DYNC2LI1_ENST00000398823.2_3'UTR|DYNC2LI1_ENST00000489222.2_Intron|DYNC2LI1_ENST00000605786.1_Intron	p.F184Y	NM_015522.3	NP_056337.1	Q8TCX1	DC2L1_HUMAN			6	641	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	0					A8MVJ5|Q53F57|Q6PDB2|Q8IWA3|Q96B03|Q96J00|Q9Y370|Q9Y3S9	Missense_Mutation	SNP	ENST00000260605.8	37	c.551T>A	CCDS1813.1	884	0.40476190476190477	361	0.733739837398374	172	0.47513812154696133	108	0.1888111888111888	243	0.32058047493403696	A	4.001	-0.002468	0.07819	0.661598	0.328837	ENSG00000138036	ENST00000406852	T	0.32023	1.47	4.45	0.913	0.19354	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.22591	-1.0212	7	0.87932	D	0	.	5.1073	0.14790	0.6522:0.0:0.2213:0.1265	rs9309107;rs52802708;rs59663186;rs9309107	184	Q8TCX1-4	.	Y	184	ENSP00000385738:F184Y	ENSP00000385738:F184Y	F	+	2	0	DYNC2LI1	43875330	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.411000	0.21115	0.048000	0.15891	-1.185000	0.01705	TTT		0.343	DYNC2LI1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250536.2	NM_016008		5	22	0	0	0	1	0	5	22					A	44021826	T	A	44021826	1	1	474	0	1	0	0	0	0	0	0	0	4847	1841	64	5		5	DYNC2LI1	2	44021826	Intron	SNP	T	TCGA-J8-A4HW-01A-11D-A257-08		44021826	199177547	2	9682											
STAT4	6775	broad.mit.edu	37	chr2	191926496	191926496	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attagggttttaagtaccaaCggcctctgagggtgggttgg	15	6	1	1	rs559315611		TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr2:191926496C>T	ENST00000392320.2	-	10	1307	c.993G>A	c.(991-993)ccG>ccA	p.P331P	STAT4_ENST00000358470.4_Silent_p.P331P	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	331					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)			TAAGTACCAACGGCCTCTGAG	0.393													C|||	1	0.000199681	0	0	5008	,	,		20647	0		0.001	False		,,,				2504	0					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.(991-993)ccG>ccA		signal transducer and activator of transcription 4							237	248	245					2																	191926496		2203	4300	6503	SO:0001819	synonymous_variant	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191926496C>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.993G>A	2.37:g.191926496C>T						STAT4_ENST00000358470.4_Silent_p.P331P	p.P331P	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)		10	1307	-			331					Q96NZ6	Silent	SNP	ENST00000392320.2	37	c.993G>A	CCDS2310.1																																																																																				0.393	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		13	154	0	0	0	1	0	13	154					T	191926496	C	T	191926496	2	4	474	1	0	0	0	0	0	0	0	1	15266	523	19	1		1	STAT4	2	191926496	Silent	SNP	C	TCGA-J8-A4HW-01A-11D-A257-08	147904670	191926496	51272877	3	9683											
ANKMY1	51281	broad.mit.edu	37	chr2	241468502	241468502	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgaccaacaaaggggtctcaTtgattatgaaccatggttct	9	8	2	3	rs199953888	byFrequency	TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr2:241468502T>A	ENST00000272972.3	-	4	852	c.638A>T	c.(637-639)aAt>aTt	p.N213I	ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.N302I|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000391987.1_Missense_Mutation_p.N213I|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000373318.2_Intron	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	213							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		AGGGGTCTCATTGATTATGAA	0.512																																						ENST00000391987.1																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30						c.(637-639)aAt>aTt		ankyrin repeat and MYND domain containing 1							157	158	158					2																	241468502		2203	4300	6503	SO:0001583	missense	51281						zinc ion binding	g.chr2:241468502T>A	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"Zinc fingers, MYND-type", "Ankyrin repeat domain containing"	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.638A>T	2.37:g.241468502T>A	ENSP00000272972:p.Asn213Ile					ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.N302I|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000272972.3_Missense_Mutation_p.N213I|ANKMY1_ENST00000406958.1_Intron	p.N213I			Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	5	1004	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	213					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	ENST00000272972.3	37	c.638A>T	CCDS2536.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.70|13.70	2.314542|2.314542	0.40996|0.40996	.|.	.|.	ENSG00000144504|ENSG00000144504	ENST00000272972;ENST00000391987;ENST00000401804;ENST00000539830;ENST00000418708|ENST00000443318	T;T;T;T|.	0.59906|.	0.28;0.28;0.23;1.22|.	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	0.384459|.	0.25526|.	N|.	0.030075|.	T|T	0.72692|0.72692	0.3492|0.3492	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	P;P|.	0.45428|.	0.858;0.858|.	B;B|.	0.37550|.	0.253;0.253|.	T|T	0.73959|0.73959	-0.3818|-0.3818	10|5	0.87932|.	D|.	0|.	-16.7088|-16.7088	12.5648|12.5648	0.56304|0.56304	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	213;213|.	Q4ZFV3;Q9P2S6|.	.;ANKY1_HUMAN|.	I|H	213;213;302;213;213|157	ENSP00000272972:N213I;ENSP00000375847:N213I;ENSP00000385887:N302I;ENSP00000407015:N213I|.	ENSP00000272972:N213I|.	N|Q	-|-	2|3	0|2	ANKMY1|ANKMY1	241117175|241117175	1.000000|1.000000	0.71417|0.71417	0.085000|0.085000	0.20634|0.20634	0.074000|0.074000	0.17049|0.17049	5.342000|5.342000	0.65970|0.65970	1.923000|1.923000	0.55706|0.55706	0.533000|0.533000	0.62120|0.62120	AAT|CAA		0.512	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		29	47	0	0	0	1	0	29	47					A	241468502	T	A	241468502	3	1	474	1	0	0	0	0	1	0	0	0	634	1493	52	5	2243	5	ANKMY1	2	241468502	Missense_Mutation	SNP	T	TCGA-J8-A4HW-01A-11D-A257-08	49542006	241468502	1730871	4	9684											
ODZ2	57451	broad.mit.edu	37	chr5	167645509	167645509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaggagatgatgcctacgCgactgatgccatcttgaatt	10	9	2	4	rs370446142		TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr5:167645509C>T	ENST00000518659.1	+	23	4652	c.4613C>T	c.(4612-4614)gCg>gTg	p.A1538V	TENM2_ENST00000520394.1_Missense_Mutation_p.A1299V|TENM2_ENST00000545108.1_Missense_Mutation_p.A1537V|TENM2_ENST00000519204.1_Missense_Mutation_p.A1417V|TENM2_ENST00000403607.2_Missense_Mutation_p.A1362V	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1538					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GATGCCTACGCGACTGATGCC	0.502																																						ENST00000519204.1																			0											c.(4249-4251)gCg>gTg		teneurin transmembrane protein 2		C	VAL/ALA	0,4102		0,0,2051	189	186	187		4586	5.9	0.8	5		187	1,8409		0,1,4204	no	missense	ODZ2	NM_001122679.1	64	0,1,6255	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging	1529/2766	167645509	1,12511	2051	4205	6256	SO:0001583	missense	57451							g.chr5:167645509C>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.4613C>T	5.37:g.167645509C>T	ENSP00000429430:p.Ala1538Val					TENM2_ENST00000518659.1_Missense_Mutation_p.A1538V|TENM2_ENST00000545108.1_Missense_Mutation_p.A1537V|TENM2_ENST00000520394.1_Missense_Mutation_p.A1299V|TENM2_ENST00000403607.2_Missense_Mutation_p.A1362V	p.A1417V							22	4368	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.4250C>T		.	.	.	.	.	.	.	.	.	.	C	27.2	4.808693	0.90707	0.0	1.19E-4	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.92805	-2.65;-2.64;-2.76;-3.08;-3.11	5.95	5.95	0.96441	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.97673	0.9237	H	0.96398	3.815	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.987	D	0.97948	1.0330	10	0.66056	D	0.02	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	1537;1538;1299	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	V	1538;1537;1417;1299;1362	ENSP00000429430:A1538V;ENSP00000438635:A1537V;ENSP00000428964:A1417V;ENSP00000427874:A1299V;ENSP00000384905:A1362V	ENSP00000384905:A1362V	A	+	2	0	ODZ2	167578087	1.000000	0.71417	0.784000	0.31847	0.952000	0.60782	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	GCG		0.502	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		55	101	0	0	0	1	0	55	101					T	167645509	C	T	167645509	3	4	474	1	0	0	0	0	1	0	0	0	10835	768	27	1	4676	1	ODZ2	5	167645509	Missense_Mutation	SNP	C	TCGA-J8-A4HW-01A-11D-A257-08		167645509	13269751	5	9685											
ACCN3	9311	broad.mit.edu	37	chr7	150746113	150746113	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccgggggatgtgggcagcGgccgtggtcctgtcagtggc	20	11	1	0	rs143167179	byFrequency	TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr7:150746113G>A	ENST00000349064.5	+	1	339	c.141G>A	c.(139-141)gcG>gcA	p.A47A	ASIC3_ENST00000357922.4_Silent_p.A47A|ASIC3_ENST00000297512.8_Silent_p.A47A	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	47					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)										TGTGGGCAGCGGCCGTGGTCC	0.662													G|||	2	0.000399361	8e-04	0.0014	5008	,	,		15273	0		0	False		,,,				2504	0					ENST00000357922.4																			0											c.(139-141)gcG>gcA		acid-sensing (proton-gated) ion channel 3		G	,,	1,4405	2.1+/-5.4	0,1,2202	49	47	47		141,141,141	-9.9	0.0	7	dbSNP_134	47	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	ACCN3	NM_004769.2,NM_020321.2,NM_020322.2	,,	0,6,6497	AA,AG,GG		0.0581,0.0227,0.0461	,,	47/532,47/550,47/544	150746113	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	9311				sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity	g.chr7:150746113G>A	AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"Ion channels / Acid-sensing (proton-gated) ion channels"	101	protein-coding gene	gene with protein product	"testis sodium channel 1"	611741	"amiloride-sensitive cation channel 3, testis", "amiloride-sensitive cation channel 3"	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.141G>A	7.37:g.150746113G>A						ASIC3_ENST00000349064.5_Silent_p.A47A|ASIC3_ENST00000297512.8_Silent_p.A47A	p.A47A	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN			1	735	+			47					B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Silent	SNP	ENST00000349064.5	37	c.141G>A	CCDS5916.1																																																																																				0.662	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351725.1	NM_004769		4	48	0	0	0	1	0	4	48					A	150746113	G	A	150746113	2	1	474	1	0	0	0	0	0	0	0	1	130	1103	39	1		1	ACCN3	7	150746113	Silent	SNP	G	TCGA-J8-A4HW-01A-11D-A257-08		150746113	8392550	6	9686											
ABCA2	20	broad.mit.edu	37	chr9	139904529	139904529	+	Frame_Shift_Del	DEL	G	G	-													cgaacagcgcgtcacactgcGggcagtagccgaggctctgc							TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr9:139904529delG	ENST00000371605.3	-	41	6545	c.6398delC	c.(6397-6399)ccgfs	p.P2133fs	ABCA2_ENST00000341511.6_Frame_Shift_Del_p.P2134fs|ABCA2_ENST00000265662.5_Frame_Shift_Del_p.P2134fs			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2133	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GTCACACTGCGGGCAGTAGCC	0.706																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(6400-6402)cgfs		ATP-binding cassette, sub-family A (ABC1), member 2							10	13	12					9																	139904529		2119	4200	6319	SO:0001589	frameshift_variant	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139904529delG	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.6398delC	9.37:g.139904529delG	ENSP00000360666:p.Pro2133fs					ABCA2_ENST00000371605.3_Frame_Shift_Del_p.P2133fs|ABCA2_ENST00000341511.6_Frame_Shift_Del_p.P2134fs	p.P2134fs			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	42	6548	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	2133			ABC transporter 2.		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Frame_Shift_Del	DEL	ENST00000371605.3	37	c.6401delC																																																																																					0.706	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		2	4						2	4	---	---	---	---	-	139904529	G	-	139904529	7	5	474	1	0	1	0	1	0	0	0	0	32	1116	39	0	941	0	ABCA2	9	139904529	Frame_Shift_Del	DEL	G	TCGA-J8-A4HW-01A-11D-A257-08		139904529	1308902	7	9687											
NUDT5	11164	broad.mit.edu	37	chr10	12228270	12228270	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccattctgagaagattcCgttggttcttggctctccat	9	10	3	2			TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr10:12228270C>T	ENST00000491614.1	-	2	416	c.21G>A	c.(19-21)acG>acA	p.T7T	NUDT5_ENST00000378952.3_5'UTR|NUDT5_ENST00000378927.3_Silent_p.T7T|NUDT5_ENST00000378937.3_Silent_p.T7T|NUDT5_ENST00000537776.1_Silent_p.T7T|NUDT5_ENST00000378940.3_Silent_p.T7T			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5	7					D-ribose catabolic process (GO:0019303)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|ribonucleoside diphosphate catabolic process (GO:0009191)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)|magnesium ion binding (GO:0000287)|nucleoside-diphosphatase activity (GO:0017110)|snoRNA binding (GO:0030515)			breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				GAGAAGATTCCGTTGGTTCTT	0.398																																						ENST00000491614.1																			0				breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8						c.(19-21)acG>acA		nudix (nucleoside diphosphate linked moiety X)-type motif 5							176	166	169					10																	12228270		2203	4300	6503	SO:0001819	synonymous_variant	11164				D-ribose catabolic process|ribonucleoside diphosphate catabolic process	intracellular	ADP-ribose diphosphatase activity|magnesium ion binding	g.chr10:12228270C>T	AF155832	CCDS7089.1	10p14	2008-05-14			ENSG00000165609	ENSG00000165609		"Nudix motif containing"	8052	protein-coding gene	gene with protein product		609230				10373642	Standard	NM_014142		Approved	hYSAH1, YSA1H	uc001ilj.3	Q9UKK9	OTTHUMG00000017682	ENST00000491614.1:c.21G>A	10.37:g.12228270C>T						NUDT5_ENST00000378952.3_5'UTR|NUDT5_ENST00000378937.3_Silent_p.T7T|NUDT5_ENST00000537776.1_Silent_p.T7T|NUDT5_ENST00000378940.3_Silent_p.T7T|NUDT5_ENST00000378927.3_Silent_p.T7T	p.T7T			Q9UKK9	NUDT5_HUMAN			2	416	-		Renal(717;0.228)	7					A8K516|Q6IAG0|Q9UH49	Silent	SNP	ENST00000491614.1	37	c.21G>A	CCDS7089.1																																																																																				0.398	NUDT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046811.1			8	45	0	0	0	1	0	8	45					T	12228270	C	T	12228270	2	4	474	1	0	0	0	0	0	0	0	1	10742	639	23	1		1	NUDT5	10	12228270	Silent	SNP	C	TCGA-J8-A4HW-01A-11D-A257-08		12228270	123306477	8	9688											
OR5L1	219437	broad.mit.edu	37	chr11	55579307	55579307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgtgatggcctatgaccGctttgtggccatctgtaacc	12	12	1	2	rs112907233	byFrequency	TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr11:55579307G>A	ENST00000333973.2	+	1	454	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	122						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(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GCCTATGACCGCTTTGTGGCC	0.522																																						ENST00000333973.2																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(364-366)cGc>cAc		olfactory receptor, family 5, subfamily L, member 1		G	HIS/ARG	2,4398	4.2+/-10.8	0,2,2198	209	173	185		365	2.3	0.4	11	dbSNP_132	185	0,8592		0,0,4296	yes	missense	OR5L1	NM_001004738.1	29	0,2,6494	AA,AG,GG		0.0,0.0455,0.0154	benign	122/312	55579307	2,12990	2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579307G>A	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.365G>A	11.37:g.55579307G>A	ENSP00000335529:p.Arg122His						p.R122H	NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN			1	454	+		all_epithelial(135;0.208)	122					B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.365G>A	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	g	16.04	3.009204	0.54361	4.55E-4	0.0	ENSG00000186117	ENST00000333973	T	0.77489	-1.1	4.18	2.29	0.28610	GPCR, rhodopsin-like superfamily (1);	0.129928	0.35772	N	0.002992	T	0.77096	0.4080	M	0.85630	2.765	0.27008	N	0.96474	B	0.13145	0.007	B	0.15484	0.013	T	0.70328	-0.4902	10	0.66056	D	0.02	-18.8028	8.8218	0.35030	0.1891:0.0:0.8109:0.0	.	122	Q8NGL2	OR5L1_HUMAN	H	122	ENSP00000335529:R122H	ENSP00000335529:R122H	R	+	2	0	OR5L1	55335883	1.000000	0.71417	0.404000	0.26397	0.975000	0.68041	5.283000	0.65621	0.254000	0.21573	0.435000	0.28638	CGC		0.522	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		40	88	0	0	0	1	0	40	88					A	55579307	G	A	55579307	3	1	474	1	0	0	0	0	1	0	0	0	11170	1087	38	1	367	1	OR5L1	11	55579307	Missense_Mutation	SNP	G	TCGA-J8-A4HW-01A-11D-A257-08		55579307	79427209	9	9689											
ESRRA	2101	broad.mit.edu	37	chr11	64082580	64082580	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgccactgcaggatgagCtggccttcgctgaggactta	12	12	0	2			TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr11:64082580C>T	ENST00000405666.1	+	6	1084	c.850C>T	c.(850-852)Ctg>Ttg	p.L284L	ESRRA_ENST00000406310.1_Silent_p.L283L|PRDX5_ENST00000265462.4_5'Flank|ESRRA_ENST00000000442.6_Silent_p.L284L	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	284	Ligand binding domain.				cartilage development (GO:0051216)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|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 (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						GCAGGATGAGCTGGCCTTCGC	0.642																																						ENST00000405666.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						c.(850-852)Ctg>Ttg		estrogen-related receptor alpha							23	25	24					11																	64082580		2100	4215	6315	SO:0001819	synonymous_variant	2101				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr11:64082580C>T	X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153		"Nuclear hormone receptors"	3471	protein-coding gene	gene with protein product		601998		ESRL1		3267207	Standard	NM_004451		Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.850C>T	11.37:g.64082580C>T						ESRRA_ENST00000000442.6_Silent_p.L284L|ESRRA_ENST00000406310.1_Silent_p.L283L	p.L284L			P11474	ERR1_HUMAN			6	1084	+			284			Ligand binding domain.		Q14514	Silent	SNP	ENST00000405666.1	37	c.850C>T	CCDS41667.1																																																																																				0.642	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319304.1	NM_004451		3	25	0	0	0	1	0	3	25					T	64082580	C	T	64082580	2	4	474	1	0	0	0	0	0	0	0	1	5260	796	28	2		2	ESRRA	11	64082580	Silent	SNP	C	TCGA-J8-A4HW-01A-11D-A257-08	8503273	64082580	70923936	10	9690											
OAS2	4939	broad.mit.edu	37	chr12	113425106	113425106	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtgctggccgccttcaaCgctctgagtaagcattgctg	13	11	2	1	rs369863340	byFrequency	TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr12:113425106C>T	ENST00000342315.4	+	2	655	c.441C>T	c.(439-441)aaC>aaT	p.N147N	OAS2_ENST00000449768.2_Silent_p.N147N|RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Silent_p.N147N	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	147	OAS domain 1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CCGCCTTCAACGCTCTGAGTA	0.493													C|||	2	0.000399361	0	0.0014	5008	,	,		19067	0		0	False		,,,				2504	0.001				Pancreas(199;709 2232 18410 33584 35052)	ENST00000392583.2																			0				NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(439-441)aaC>aaT		2'-5'-oligoadenylate synthetase 2, 69/71kDa		C	,,	0,4406		0,0,2203	48	51	50		441,441,441	-6.3	0.1	12		50	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	OAS2	NM_001032731.1,NM_002535.2,NM_016817.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	147/173,147/688,147/720	113425106	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113425106C>T	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"2'-5'-oligoadenylate synthetase 2 (69-71 kD)"			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.441C>T	12.37:g.113425106C>T						OAS2_ENST00000342315.4_Silent_p.N147N|RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000449768.2_Silent_p.N147N	p.N147N	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN			2	648	+			147			OAS domain 1.		A8K9T1|Q6PJ33|Q86XX8	Silent	SNP	ENST00000342315.4	37	c.441C>T	CCDS31906.1																																																																																				0.493	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1			21	19	0	0	0	1	0	21	19					T	113425106	C	T	113425106	2	4	474	1	0	0	0	0	0	0	0	1	10800	535	19	1		1	OAS2	12	113425106	Silent	SNP	C	TCGA-J8-A4HW-01A-11D-A257-08		113425106	20426789	11	9691											
DNAH10	196385	broad.mit.edu	37	chr12	124332605	124332605	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaagccttgggcttgctctGtgttgtcaccaactgtggcg	13	10	2	0			TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr12:124332605G>T	ENST00000409039.3	+	32	5583	c.5558G>T	c.(5557-5559)tGt>tTt	p.C1853F		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1853	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGCTTGCTCTGTGTTGTCACC	0.587																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(5557-5559)tGt>tTt		dynein, axonemal, heavy chain 10							128	130	129					12																	124332605		2038	4210	6248	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124332605G>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5558G>T	12.37:g.124332605G>T	ENSP00000386770:p.Cys1853Phe						p.C1853F	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	32	5583	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1853			AAA 1 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.5558G>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820985	0.90873	.	.	ENSG00000197653	ENST00000409039	T	0.34072	1.38	5.67	5.67	0.87782	ATPase, AAA+ type, core (1);	0.064266	0.64402	U	0.000004	T	0.67942	0.2947	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72956	-0.4134	10	0.87932	D	0	.	19.7654	0.96337	0.0:0.0:1.0:0.0	.	1853	Q8IVF4	DYH10_HUMAN	F	1853	ENSP00000386770:C1853F	ENSP00000386770:C1853F	C	+	2	0	DNAH10	122898558	1.000000	0.71417	0.949000	0.38748	0.867000	0.49689	9.853000	0.99521	2.678000	0.91216	0.555000	0.69702	TGT		0.587	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			33	51	1	0	3.99451e-17	1	4.75537e-17	33	51					T	124332605	G	T	124332605	3	4	474	1	0	0	0	0	1	0	0	0	4598	1377	48	4	5684	4	DNAH10	12	124332605	Missense_Mutation	SNP	G	TCGA-J8-A4HW-01A-11D-A257-08	10907499	124332605	9519290	12	9692											
PARP4	143	broad.mit.edu	37	chr13	25075948	25075963	+	Frame_Shift_Del	DEL	CATTATCTAAGATTAT	CATTATCTAAGATTAT	-													gtactgactcagaacatcagCattatctaagattatatgtg					rs145033589|rs146567108	byFrequency	TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr13:25075948_25075963delCATTATCTAAGATTAT	ENST00000381989.3	-	3	247_262	c.142_157delATAATCTTAGATAATG	c.(142-159)ataatcttagataatgctfs	p.IILDNA48fs		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	48	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AGAACATCAGCATTATCTAAGATTATATGTGTGCAC	0.315																																						ENST00000381989.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(142-159)ctfs		poly (ADP-ribose) polymerase family, member 4																																				SO:0001589	frameshift_variant	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25075948_25075963delCATTATCTAAGATTAT	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.142_157delATAATCTTAGATAATG	13.37:g.25075948_25075963delCATTATCTAAGATTAT	ENSP00000371419:p.Ile48fs						p.IILDNA48fs	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	3	247_262	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	48			BRCT.		O75903|Q14682|Q5QNZ9|Q9H1M6	Frame_Shift_Del	DEL	ENST00000381989.3	37	c.142_157delATAATCTTAGATAATG	CCDS9307.1																																																																																				0.315	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		11	39						11	39	---	---	---	---	-	25075963	CATTATCTAAGATTAT	-	25075948	7	5	474	1	0	1	0	1	0	0	0	0	11463	710	25	0	5145	0	PARP4	13	25075948	Frame_Shift_Del	DEL	CATTATCTAAGATTAT	TCGA-J8-A4HW-01A-11D-A257-08		25075948	90093930	13	9693											
CYP19A1	1588	broad.mit.edu	37	chr15	51520089	51520089	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtttgctgccgaatcgagagCtgtaatgattgtgcttcatt	11	7	1	2			TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr15:51520089C>A	ENST00000396402.1	-	4	491	c.338G>T	c.(337-339)aGc>aTc	p.S113I	CYP19A1_ENST00000405913.3_Missense_Mutation_p.S113I|CYP19A1_ENST00000559878.1_Missense_Mutation_p.S113I|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Missense_Mutation_p.S113I|CYP19A1_ENST00000396404.4_Missense_Mutation_p.S113I|CYP19A1_ENST00000557858.1_Missense_Mutation_p.S113I	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	113					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|prostate gland growth (GO:0060736)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)	aromatase activity (GO:0070330)|electron carrier activity (GO:0009055)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	GAATCGAGAGCTGTAATGATT	0.443																																					Melanoma(142;1016 1807 39614 48966 51721)	ENST00000396402.1																			0				endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33						c.(337-339)aGc>aTc		cytochrome P450, family 19, subfamily A, polypeptide 1	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)						133	112	119					15																	51520089		2196	4293	6489	SO:0001583	missense	0				estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr15:51520089C>A	D14473	CCDS10139.1	15q21	2009-01-26	2003-02-14	2003-02-28	ENSG00000137869	ENSG00000137869		"Cytochrome P450s"	2594	protein-coding gene	gene with protein product		107910	"cytochrome P450, subfamily XIX (aromatization of androgens)"	CYP19		8477708	Standard	NM_031226		Approved	ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase	uc001zza.4	P11511	OTTHUMG00000131747	ENST00000396402.1:c.338G>T	15.37:g.51520089C>A	ENSP00000379683:p.Ser113Ile					CYP19A1_ENST00000559878.1_Missense_Mutation_p.S113I|CYP19A1_ENST00000396404.4_Missense_Mutation_p.S113I|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000557858.1_Missense_Mutation_p.S113I|CYP19A1_ENST00000405913.3_Missense_Mutation_p.S113I|CYP19A1_ENST00000260433.2_Missense_Mutation_p.S113I	p.S113I	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN		all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	4	491	-			113					Q16731|Q3B764|Q58FA0|Q8IYJ7	Missense_Mutation	SNP	ENST00000396402.1	37	c.338G>T	CCDS10139.1	.	.	.	.	.	.	.	.	.	.	C	4.856	0.159110	0.09236	.	.	ENSG00000137869	ENST00000396402;ENST00000260433;ENST00000541721;ENST00000396404;ENST00000420301;ENST00000439712;ENST00000405913;ENST00000453807;ENST00000405011	T;T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	5.81	-9.54	0.00572	.	0.681915	0.16246	N	0.222910	T	0.24275	0.0588	N	0.00707	-1.245	0.09310	N	1	B;B	0.25521	0.128;0.023	B;B	0.31869	0.137;0.073	T	0.41270	-0.9518	10	0.31617	T	0.26	-0.0022	5.4555	0.16588	0.2518:0.4947:0.1664:0.0871	.	113;113	Q8IYJ7;P11511	.;CP19A_HUMAN	I	113	ENSP00000379683:S113I;ENSP00000260433:S113I;ENSP00000379685:S113I;ENSP00000390614:S113I;ENSP00000383930:S113I;ENSP00000391139:S113I;ENSP00000384389:S113I	ENSP00000260433:S113I	S	-	2	0	CYP19A1	49307381	0.001000	0.12720	0.002000	0.10522	0.003000	0.03518	0.057000	0.14279	-1.675000	0.01459	-1.014000	0.02459	AGC		0.443	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254669.1			14	27	1	0	4.3838e-07	1	4.98159e-07	14	27					A	51520089	C	A	51520089	3	1	474	1	0	0	0	0	1	0	0	0	4148	797	28	4	1201	4	CYP19A1	15	51520089	Missense_Mutation	SNP	C	TCGA-J8-A4HW-01A-11D-A257-08		51520089	51011303	14	9694											
DNAH17	8632	broad.mit.edu	37	chr17	76565292	76565292	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaatttatcctggaaaAggcaagagaagaagggaatt	13	3	0	2			TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr17:76565292A>T	ENST00000585328.1	-	9	1364	c.1240T>A	c.(1240-1242)Ttt>Att	p.F414I	DNAH17_ENST00000389840.5_Missense_Mutation_p.F414I	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	414	Stem. {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(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ATCCTGGAAAAGGCAAGAGAA	0.478																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(1240-1242)Ttt>Att		dynein, axonemal, heavy chain 17							65	65	65					17																	76565292		2203	4299	6502	SO:0001583	missense	8632							g.chr17:76565292A>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.1240T>A	17.37:g.76565292A>T	ENSP00000465516:p.Phe414Ile					DNAH17_ENST00000585328.1_Missense_Mutation_p.F414I	p.F414I					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		9	1364	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.1240T>A		.	.	.	.	.	.	.	.	.	.	A	15.96	2.987577	0.53934	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.60040	0.22	4.99	4.99	0.66335	.	0.713712	0.11933	N	0.515546	T	0.80581	0.4650	M	0.90198	3.095	0.36912	D	0.89094	D	0.89917	1.0	D	0.87578	0.998	D	0.83809	0.0240	10	0.87932	D	0	.	12.9129	0.58190	1.0:0.0:0.0:0.0	.	116	Q9UFH2-4	.	I	414	ENSP00000374490:F414I	ENSP00000300671:F414I	F	-	1	0	DNAH17	74076887	0.998000	0.40836	0.755000	0.31263	0.068000	0.16541	4.815000	0.62634	1.878000	0.54408	0.459000	0.35465	TTT		0.478	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		4	11	0	0	0	1	0	4	11					T	76565292	A	T	76565292	3	4	474	1	0	0	0	0	1	0	0	0	4601	72	3	5	12440	5	DNAH17	17	76565292	Missense_Mutation	SNP	A	TCGA-J8-A4HW-01A-11D-A257-08		76565292	4629918	15	9695											
C21orf2	755	broad.mit.edu	37	chr21	45753014	45753014	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgggttctcggccagccacAgcacccgcagacgcggcagc	13	17	1	1			TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr21:45753014A>G	ENST00000339818.4	-	4	482	c.275T>C	c.(274-276)cTg>cCg	p.L92P	C21orf2_ENST00000397956.3_Missense_Mutation_p.L92P|C21orf2_ENST00000325223.7_Missense_Mutation_p.L92P|AP001062.7_ENST00000448927.1_RNA|C21orf2_ENST00000496321.1_5'UTR	NM_001271440.1|NM_004928.2	NP_001258369.1|NP_004919.1	O43822	CU002_HUMAN	chromosome 21 open reading frame 2	92					cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				endometrium(2)	2				Colorectal(79;0.0806)		GGCCAGCCACAGCACCCGCAG	0.687																																						ENST00000339818.4																			0				endometrium(2)	2						c.(274-276)cTg>cCg		chromosome 21 open reading frame 2							15	17	17					21																	45753014		2190	4265	6455	SO:0001583	missense	755							g.chr21:45753014A>G	Y11392	CCDS13709.1, CCDS59444.1, CCDS59445.1	21q22.3	2014-03-24			ENSG00000160226	ENSG00000160226			1260	protein-coding gene	gene with protein product	"nuclear encoded mitochondrial protein", "leucine rich repeat containing 76"	603191				9465297	Standard	NM_004928		Approved	YF5, A2, LRRC76	uc002zeq.2	O43822	OTTHUMG00000086909	ENST00000339818.4:c.275T>C	21.37:g.45753014A>G	ENSP00000344566:p.Leu92Pro					C21orf2_ENST00000325223.7_Missense_Mutation_p.L92P|AP001062.7_ENST00000448927.1_RNA|C21orf2_ENST00000397956.3_Missense_Mutation_p.L92P|C21orf2_ENST00000496321.1_5'UTR	p.L92P	NM_004928.2	NP_004919.1	O43822	CU002_HUMAN		Colorectal(79;0.0806)	4	482	-			92					A8MPS9|O14993|Q8N5X6|Q99837|Q99838	Missense_Mutation	SNP	ENST00000339818.4	37	c.275T>C	CCDS13709.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.681739	0.88542	.	.	ENSG00000160226	ENST00000339818;ENST00000380160;ENST00000397956;ENST00000325223	T;T;T	0.57273	0.41;0.41;0.41	4.99	4.99	0.66335	.	0.000000	0.64402	D	0.000001	T	0.76912	0.4054	M	0.90922	3.16	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;0.997;0.999;0.999	T	0.82317	-0.0517	10	0.87932	D	0	-25.9191	12.5218	0.56065	1.0:0.0:0.0:0.0	.	92;92;92;51	G5E952;Q8N5X6;O43822;O43822-2	.;.;CU002_HUMAN;.	P	92;128;92;92	ENSP00000344566:L92P;ENSP00000381047:L92P;ENSP00000317302:L92P	ENSP00000317302:L92P	L	-	2	0	C21orf2	44577442	1.000000	0.71417	0.992000	0.48379	0.968000	0.65278	6.732000	0.74790	2.009000	0.58944	0.533000	0.62120	CTG		0.687	C21orf2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195799.1	NM_004928		3	11	0	0	0	1	0	3	11					G	45753014	A	G	45753014	3	3	474	1	0	0	0	0	1	0	0	0	2123	188	7	3	511	3	C21orf2	21	45753014	Missense_Mutation	SNP	A	TCGA-J8-A4HW-01A-11D-A257-08		45753014	2376881	16	9696											
MED15	51586	broad.mit.edu	37	chr22	20891439	20891439	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaagctggtgtggcacacaGtaaatccagcaaggatatgg	13	7	0	0			TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr22:20891439G>T	ENST00000263205.7	+	2	173	c.104G>T	c.(103-105)aGt>aTt	p.S35I	MED15_ENST00000542773.1_5'UTR|MED15_ENST00000541476.1_Missense_Mutation_p.S9I|MED15_ENST00000382974.2_Missense_Mutation_p.S35I|MED15_ENST00000425759.2_5'UTR|MED15_ENST00000406969.1_Missense_Mutation_p.S9I|MED15_ENST00000292733.7_Missense_Mutation_p.S35I	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	35	Interaction with SREBF1.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			GTGGCACACAGTAAATCCAGC	0.552																																						ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(103-105)aGt>aTt		mediator complex subunit 15							180	153	162					22																	20891439		2203	4300	6503	SO:0001583	missense	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20891439G>T	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"trinucleotide repeat containing 7", "PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.104G>T	22.37:g.20891439G>T	ENSP00000263205:p.Ser35Ile					MED15_ENST00000382974.2_Missense_Mutation_p.S35I|MED15_ENST00000425759.2_5'UTR|MED15_ENST00000541476.1_Missense_Mutation_p.S9I|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000292733.7_Missense_Mutation_p.S35I|MED15_ENST00000406969.1_Missense_Mutation_p.S9I	p.S35I	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		2	173	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	35			Interaction with SREBF1.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	ENST00000263205.7	37	c.104G>T	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.313692	0.40996	.	.	ENSG00000099917	ENST00000445987;ENST00000414658;ENST00000432052;ENST00000292733;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000438962;ENST00000445189;ENST00000542312;ENST00000451058	.	.	.	5.7	3.63	0.41609	Mediator complex, subunit Med15, metazoa (1);	0.205257	0.49916	D	0.000133	T	0.50377	0.1612	L	0.50333	1.59	0.80722	D	1	P;P;P;P;P	0.50369	0.934;0.919;0.919;0.934;0.899	P;P;P;P;P	0.49637	0.617;0.483;0.483;0.617;0.466	T	0.53507	-0.8429	9	0.87932	D	0	.	5.315	0.15850	0.1748:0.1689:0.6563:0.0	.	54;9;35;35;35	Q6PKB8;G3V1P5;Q96RN5-2;Q96RN5;Q96RN5-3	.;.;.;MED15_HUMAN;.	I	9;9;9;35;35;9;35;9;109;9;9;9	.	ENSP00000263205:S35I	S	+	2	0	MED15	19221439	0.998000	0.40836	1.000000	0.80357	0.640000	0.38277	0.383000	0.20651	1.426000	0.47256	0.655000	0.94253	AGT		0.552	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		14	27	1	0	9.31168e-06	1	1.01214e-05	14	27					T	20891439	G	T	20891439	3	4	474	1	0	0	0	0	1	0	0	0	9433	1029	36	4	110	4	MED15	22	20891439	Missense_Mutation	SNP	G	TCGA-J8-A4HW-01A-11D-A257-08		20891439	30413127	17	9697											
PTCHD2	57540	broad.mit.edu	37	chr1	11561768	11561768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccagcatcccgccccacgCggcagtcgcggccaatcaga	11	19	1	1			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr1:11561768C>T	ENST00000294484.6	+	2	857	c.719C>T	c.(718-720)gCg>gTg	p.A240V	PTCHD2_ENST00000389575.3_Missense_Mutation_p.A240V	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	240					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)		CCGCCCCACGCGGCAGTCGCG	0.687																																						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.(718-720)gCg>gTg		patched domain containing 2							6	8	7					1																	11561768		1935	4075	6010	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11561768C>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.719C>T	1.37:g.11561768C>T	ENSP00000294484:p.Ala240Val					PTCHD2_ENST00000389575.3_Missense_Mutation_p.A240V	p.A240V	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	857	+	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)	240					Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.719C>T	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	C	1.610	-0.524322	0.04141	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.26373	1.74;1.74	4.85	-6.53	0.01866	.	2.661690	0.01024	N	0.004020	T	0.08846	0.0219	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13710	-1.0499	10	0.30078	T	0.28	2.8723	1.1168	0.01716	0.1472:0.3405:0.2237:0.2887	.	240	Q9P2K9	PTHD2_HUMAN	V	240	ENSP00000294484:A240V;ENSP00000374226:A240V	ENSP00000294484:A240V	A	+	2	0	PTCHD2	11484355	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.880000	0.04183	-1.023000	0.03342	-0.844000	0.03045	GCG		0.687	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		4	9	0	0	0	1	0	4	9					T	11561768	C	T	11561768	3	4	475	1	0	0	0	0	1	0	0	0	12733	768	27	1	721	1	PTCHD2	1	11561768	Missense_Mutation	SNP	C	TCGA-J8-A4HY-01A-11D-A257-08		11561768	237688853	1	9698											
NGF	4803	broad.mit.edu	37	chr1	115828787	115828787	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttgccatccatggtcagCgccttgacaaaggtgtgagt	12	10	1	2	rs112292538		TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr1:115828787C>T	ENST00000369512.2	-	3	798	c.630G>A	c.(628-630)gcG>gcA	p.A210A	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	210					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	CCATGGTCAGCGCCTTGACAA	0.572																																						ENST00000369512.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(628-630)gcG>gcA		nerve growth factor (beta polypeptide)	Clenbuterol(DB01407)						79	79	79					1																	115828787		2203	4300	6503	SO:0001819	synonymous_variant	4803				activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding	g.chr1:115828787C>T		CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"Endogenous ligands"	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.630G>A	1.37:g.115828787C>T						RP4-663N10.1_ENST00000425449.1_RNA	p.A210A	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	3	798	-	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)	210					A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Silent	SNP	ENST00000369512.2	37	c.630G>A	CCDS882.1																																																																																				0.572	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	NM_002506		27	74	0	0	0	1	0	27	74					T	115828787	C	T	115828787	2	4	475	1	0	0	0	0	0	0	0	1	10395	755	27	1		1	NGF	1	115828787	Silent	SNP	C	TCGA-J8-A4HY-01A-11D-A257-08	104267019	115828787	133421834	2	9699											
WDR54	84058	broad.mit.edu	37	chr2	74652207	74652207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcacccttgcagagttcCgtgcccctctgtgcagctgt	11	14	2	1	rs187456631		TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr2:74652207C>T	ENST00000348227.4	+	8	729	c.641C>T	c.(640-642)cCg>cTg	p.P214L	WDR54_ENST00000409791.1_Missense_Mutation_p.P162L|WDR54_ENST00000461531.1_3'UTR	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	214										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						TGCAGAGTTCCGTGCCCCTCT	0.532													C|||	1	0.000199681	0	0	5008	,	,		21820	0.001		0	False		,,,				2504	0					ENST00000348227.4																			0				breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						c.(640-642)cCg>cTg		WD repeat domain 54							60	62	61					2																	74652207		2203	4300	6503	SO:0001583	missense	84058							g.chr2:74652207C>T	AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"WD repeat domain containing"	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951	ENST00000348227.4:c.641C>T	2.37:g.74652207C>T	ENSP00000006526:p.Pro214Leu					WDR54_ENST00000409791.1_Missense_Mutation_p.P162L|WDR54_ENST00000461531.1_3'UTR	p.P214L	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN			8	729	+			214					D6W5I3|Q53H85|Q86V45	Missense_Mutation	SNP	ENST00000348227.4	37	c.641C>T	CCDS1940.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.58	3.424880	0.62733	.	.	ENSG00000005448	ENST00000409791;ENST00000348227	.	.	.	4.92	4.92	0.64577	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.353444	0.28225	N	0.016135	T	0.50205	0.1602	L	0.55481	1.735	0.80722	D	1	D	0.67145	0.996	P	0.46253	0.509	T	0.42899	-0.9424	9	0.19147	T	0.46	-11.7489	13.4759	0.61308	0.0:1.0:0.0:0.0	.	214	Q9H977	WDR54_HUMAN	L	162;214	.	ENSP00000006526:P214L	P	+	2	0	WDR54	74505715	0.122000	0.22280	0.959000	0.39883	0.909000	0.53808	1.422000	0.34826	2.554000	0.86153	0.561000	0.74099	CCG		0.532	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252213.1	NM_032118		15	39	0	0	0	1	0	15	39					T	74652207	C	T	74652207	3	4	475	1	0	0	0	0	1	0	0	0	17303	652	23	1	667	1	WDR54	2	74652207	Missense_Mutation	SNP	C	TCGA-J8-A4HY-01A-11D-A257-08		74652207	168547166	3	9700											
BIN1	274	broad.mit.edu	37	chr2	127821186	127821186	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagttttcctccaggcccgcGatgctctggaacgtgttgac	11	12	1	1	rs184358580		TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr2:127821186G>A	ENST00000316724.5	-	9	1146	c.735C>T	c.(733-735)atC>atT	p.I245I	BIN1_ENST00000259238.4_Silent_p.I214I|BIN1_ENST00000376113.2_Silent_p.I214I|BIN1_ENST00000346226.3_Silent_p.I214I|BIN1_ENST00000393040.3_Silent_p.I214I|BIN1_ENST00000466111.1_5'UTR|BIN1_ENST00000348750.4_Silent_p.I214I|BIN1_ENST00000351659.3_Silent_p.I245I|BIN1_ENST00000393041.3_Silent_p.I214I|BIN1_ENST00000357970.3_Silent_p.I245I|BIN1_ENST00000352848.3_Silent_p.I214I|BIN1_ENST00000409400.1_Silent_p.I214I	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	245	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CCAGGCCCGCGATGCTCTGGA	0.597													G|||	1	0.000199681	0	0.0014	5008	,	,		19083	0		0	False		,,,				2504	0					ENST00000316724.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24						c.(733-735)atC>atT		bridging integrator 1							92	71	78					2																	127821186		2203	4300	6503	SO:0001819	synonymous_variant	274				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus		g.chr2:127821186G>A	U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"amphiphysin II"	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.735C>T	2.37:g.127821186G>A						BIN1_ENST00000466111.1_5'UTR|BIN1_ENST00000259238.4_Silent_p.I214I|BIN1_ENST00000352848.3_Silent_p.I214I|BIN1_ENST00000376113.2_Silent_p.I214I|BIN1_ENST00000409400.1_Silent_p.I214I|BIN1_ENST00000393041.3_Silent_p.I214I|BIN1_ENST00000346226.3_Silent_p.I214I|BIN1_ENST00000357970.3_Silent_p.I245I|BIN1_ENST00000348750.4_Silent_p.I214I|BIN1_ENST00000393040.3_Silent_p.I214I|BIN1_ENST00000351659.3_Silent_p.I245I	p.I245I	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	9	1146	-	Colorectal(110;0.0831)		245			BAR.		O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Silent	SNP	ENST00000316724.5	37	c.735C>T	CCDS2138.1																																																																																				0.597	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254298.2	NM_139343		7	21	0	0	0	1	0	7	21					A	127821186	G	A	127821186	2	1	475	1	0	0	0	0	0	0	0	1	1432	1048	37	1		1	BIN1	2	127821186	Silent	SNP	G	TCGA-J8-A4HY-01A-11D-A257-08	53168979	127821186	115378187	4	9701											
SH3BP4	23677	broad.mit.edu	37	chr2	235950264	235950264	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagagccgggaggattttcGaactgcctggctaaaccaca	11	11	1	1			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr2:235950264G>A	ENST00000409212.1	+	4	1358	c.851G>A	c.(850-852)cGa>cAa	p.R284Q	SH3BP4_ENST00000392011.2_Missense_Mutation_p.R284Q|SH3BP4_ENST00000344528.4_Missense_Mutation_p.R284Q			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	284					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GAGGATTTTCGAACTGCCTGG	0.592																																						ENST00000409212.1																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44						c.(850-852)cGa>cAa		SH3-domain binding protein 4							44	54	51					2																	235950264		2203	4299	6502	SO:0001583	missense	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235950264G>A	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.851G>A	2.37:g.235950264G>A	ENSP00000386862:p.Arg284Gln					SH3BP4_ENST00000344528.4_Missense_Mutation_p.R284Q|SH3BP4_ENST00000392011.2_Missense_Mutation_p.R284Q	p.R284Q			Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	4	1358	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	284					O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	c.851G>A	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707369	0.68615	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000409212;ENST00000344528	T;T;T	0.12255	2.7;2.7;2.7	5.58	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.26011	0.0634	L	0.57536	1.79	0.58432	D	0.99999	D;D	0.71674	0.998;0.998	P;P	0.54499	0.754;0.754	T	0.01578	-1.1320	10	0.72032	D	0.01	-16.5223	13.3919	0.60829	0.0764:0.0:0.9236:0.0	.	284;284	A8K594;Q9P0V3	.;SH3B4_HUMAN	Q	284	ENSP00000375867:R284Q;ENSP00000386862:R284Q;ENSP00000340237:R284Q	ENSP00000340237:R284Q	R	+	2	0	SH3BP4	235615003	1.000000	0.71417	0.038000	0.18304	0.594000	0.36715	9.549000	0.98106	1.354000	0.45846	0.650000	0.86243	CGA		0.592	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			28	69	0	0	0	1	0	28	69					A	235950264	G	A	235950264	3	1	475	1	0	0	0	0	1	0	0	0	14246	1058	37	1	857	1	SH3BP4	2	235950264	Missense_Mutation	SNP	G	TCGA-J8-A4HY-01A-11D-A257-08	108129078	235950264	7249109	5	9702											
SH3TC1	54436	broad.mit.edu	37	chr4	8218801	8218801	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaccccagggagaggcggCcccggaaacagactcttcac	13	15	2	2			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr4:8218801C>T	ENST00000245105.3	+	7	813	c.746C>T	c.(745-747)gCc>gTc	p.A249V	SH3TC1_ENST00000539824.1_Missense_Mutation_p.A173V	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	249										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GGAGAGGCGGCCCCGGAAACA	0.657																																					NSCLC(145;2298 2623 35616 37297)	ENST00000539824.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(517-519)gCc>gTc		SH3 domain and tetratricopeptide repeats 1							31	35	34					4																	8218801		2203	4299	6502	SO:0001583	missense	54436						binding	g.chr4:8218801C>T	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"Tetratricopeptide (TTC) repeat domain containing"	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.746C>T	4.37:g.8218801C>T	ENSP00000245105:p.Ala249Val					SH3TC1_ENST00000245105.3_Missense_Mutation_p.A249V	p.A173V			Q8TE82	S3TC1_HUMAN			7	892	+			249					Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	c.518C>T	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	C	8.272	0.813635	0.16537	.	.	ENSG00000125089	ENST00000245105;ENST00000539824;ENST00000535265;ENST00000508641	T;T;T	0.75589	-0.95;-0.94;0.47	3.75	1.72	0.24424	.	2.299120	0.01836	N	0.035010	T	0.54127	0.1839	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.15052	0.012	T	0.42430	-0.9452	10	0.12103	T	0.63	-1.5255	1.6515	0.02773	0.2724:0.4383:0.1628:0.1265	.	249	Q8TE82	S3TC1_HUMAN	V	249;173;78;58	ENSP00000245105:A249V;ENSP00000441045:A173V;ENSP00000426035:A58V	ENSP00000245105:A249V	A	+	2	0	SH3TC1	8269701	0.000000	0.05858	0.002000	0.10522	0.378000	0.30076	0.192000	0.17096	0.655000	0.30866	0.462000	0.41574	GCC		0.657	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		7	39	0	0	0	1	0	7	39					T	8218801	C	T	8218801	3	4	475	1	0	0	0	0	1	0	0	0	14261	739	26	2	768	2	SH3TC1	4	8218801	Missense_Mutation	SNP	C	TCGA-J8-A4HY-01A-11D-A257-08		8218801	182935475	6	9703											
PTPN13	5783	broad.mit.edu	37	chr4	87724940	87724940	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctggtaaatacacgggtgCcaacttaaaatcagtcattc	7	10	3	0			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr4:87724940C>A	ENST00000411767.2	+	43	6647	c.6584C>A	c.(6583-6585)gCc>gAc	p.A2195D	PTPN13_ENST00000511467.1_Missense_Mutation_p.A2200D|PTPN13_ENST00000427191.2_Missense_Mutation_p.A2176D|PTPN13_ENST00000436978.1_Missense_Mutation_p.A2200D|PTPN13_ENST00000316707.6_Missense_Mutation_p.A2004D			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2195					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TACACGGGTGCCAACTTAAAA	0.463																																						ENST00000436978.1																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(6598-6600)gCc>gAc		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							164	154	157					4																	87724940		1908	4118	6026	SO:0001583	missense	0					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87724940C>A		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.6584C>A	4.37:g.87724940C>A	ENSP00000407249:p.Ala2195Asp					PTPN13_ENST00000316707.6_Missense_Mutation_p.A2004D|PTPN13_ENST00000511467.1_Missense_Mutation_p.A2200D|PTPN13_ENST00000427191.2_Missense_Mutation_p.A2176D|PTPN13_ENST00000411767.2_Missense_Mutation_p.A2195D	p.A2200D	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	43	7079	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	2195					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.6599C>A	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.667291	0.47677	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52	5.18	3.33	0.38152	.	1.069620	0.07360	N	0.883931	T	0.12305	0.0299	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.31893	0.159;0.116;0.234;0.345	B;B;B;B	0.28385	0.043;0.089;0.041;0.089	T	0.28586	-1.0039	10	0.26408	T	0.33	.	12.5702	0.56332	0.1309:0.7429:0.1262:0.0	.	2004;2176;2195;2200	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	D	2176;2200;2004;2195;2200;2144	ENSP00000408368:A2176D;ENSP00000394794:A2200D;ENSP00000322675:A2004D;ENSP00000407249:A2195D;ENSP00000426626:A2200D	ENSP00000322675:A2004D	A	+	2	0	PTPN13	87943964	0.036000	0.19791	0.003000	0.11579	0.979000	0.70002	2.444000	0.44890	1.287000	0.44583	0.555000	0.69702	GCC		0.463	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			11	103	1	0	1.08611e-07	1	1.14041e-07	11	103					A	87724940	C	A	87724940	3	1	475	1	0	0	0	0	1	0	0	0	12782	739	26	4	6765	4	PTPN13	4	87724940	Missense_Mutation	SNP	C	TCGA-J8-A4HY-01A-11D-A257-08	79506139	87724940	103429336	7	9704											
HCN1	348980	broad.mit.edu	37	chr5	45262298	45262298	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gggatgaggtctggaaatcaGagtggacacctcatggggca	16	7	3	2			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr5:45262298G>C	ENST00000303230.4	-	8	2455	c.2398C>G	c.(2398-2400)Ctg>Gtg	p.L800V		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	800					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTGGAAATCAGAGTGGACACC	0.657																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(2398-2400)Ctg>Gtg		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							51	50	50					5																	45262298		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262298G>C	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2398C>G	5.37:g.45262298G>C	ENSP00000307342:p.Leu800Val						p.L800V	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			8	2455	-			800						Missense_Mutation	SNP	ENST00000303230.4	37	c.2398C>G	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	7.506	0.653578	0.14580	.	.	ENSG00000164588	ENST00000303230	T	0.78003	-1.14	5.02	1.15	0.20763	.	0.433156	0.18839	N	0.129723	T	0.51381	0.1671	N	0.11560	0.145	0.31486	N	0.666567	B	0.24483	0.104	B	0.25140	0.058	T	0.42464	-0.9450	10	0.12103	T	0.63	.	4.3406	0.11108	0.2113:0.0:0.3986:0.3901	.	800	O60741	HCN1_HUMAN	V	800	ENSP00000307342:L800V	ENSP00000307342:L800V	L	-	1	2	HCN1	45298055	0.506000	0.26139	0.943000	0.38184	0.992000	0.81027	1.085000	0.30840	-0.012000	0.14223	0.655000	0.94253	CTG		0.657	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		14	50	0	0	0	1	0	14	50					C	45262298	G	C	45262298	3	2	475	1	0	0	0	0	1	0	0	0	6996	933	33	4	278	4	HCN1	5	45262298	Missense_Mutation	SNP	G	TCGA-J8-A4HY-01A-11D-A257-08		45262298	135652962	8	9705											
TRIM23	373	broad.mit.edu	37	chr5	64887703	64887703	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acagccctgaatataccagcTacggccacagcataatttat	6	12	0	1			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr5:64887703T>A	ENST00000231524.9	-	11	1989	c.1618A>T	c.(1618-1620)Agc>Tgc	p.S540C	TRIM23_ENST00000381018.3_Missense_Mutation_p.S540C|TRIM23_ENST00000274327.7_Missense_Mutation_p.S540C	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	540	ARF-like.				GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		ATATACCAGCTACGGCCACAG	0.438																																						ENST00000231524.9																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28						c.(1618-1620)Agc>Tgc		tripartite motif containing 23							99	94	96					5																	64887703		2203	4300	6503	SO:0001583	missense	373				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:64887703T>A	L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	660	protein-coding gene	gene with protein product		601747	"ADP-ribosylation factor domain protein 1, 64kDa", "tripartite motif-containing 23"	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.1618A>T	5.37:g.64887703T>A	ENSP00000231524:p.Ser540Cys					TRIM23_ENST00000381018.3_Missense_Mutation_p.S540C|TRIM23_ENST00000274327.7_Missense_Mutation_p.S540C	p.S540C	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN		Lung(70;0.00473)	11	1989	-		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)	540			ARF-like.		Q9BZY4|Q9BZY5	Missense_Mutation	SNP	ENST00000231524.9	37	c.1618A>T	CCDS3987.1	.	.	.	.	.	.	.	.	.	.	T	18.88	3.718043	0.68844	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	D;D;T	0.82803	-1.65;-1.65;-0.85	5.56	5.56	0.83823	.	0.037929	0.85682	D	0.000000	D	0.87853	0.6282	L	0.47016	1.485	0.58432	D	0.999999	P;D;D	0.76494	0.808;0.999;0.995	P;D;D	0.67103	0.742;0.927;0.949	D	0.88990	0.3414	10	0.72032	D	0.01	.	15.714	0.77652	0.0:0.0:0.0:1.0	.	540;540;540	P36406;P36406-2;P36406-3	TRI23_HUMAN;.;.	C	540	ENSP00000231524:S540C;ENSP00000370406:S540C;ENSP00000274327:S540C	ENSP00000231524:S540C	S	-	1	0	TRIM23	64923459	1.000000	0.71417	0.999000	0.59377	0.439000	0.31926	7.982000	0.88131	2.108000	0.64289	0.459000	0.35465	AGC		0.438	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2	NM_001656		10	62	0	0	0	1	0	10	62					A	64887703	T	A	64887703	3	1	475	1	0	0	0	0	1	0	0	0	16494	1522	53	5	177	5	TRIM23	5	64887703	Missense_Mutation	SNP	T	TCGA-J8-A4HY-01A-11D-A257-08	19625405	64887703	116027557	9	9706											
PHAX	51808	broad.mit.edu	37	chr5	125960507	125960507	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagaggaagccattgaagttGatcattctcatgatttggac	10	7	2	4			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr5:125960507G>A	ENST00000297540.4	+	5	1851	c.1156G>A	c.(1156-1158)Gat>Aat	p.D386N		NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	386					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein transport (GO:0015031)|RNA metabolic process (GO:0016070)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA binding (GO:0003723)|toxic substance binding (GO:0015643)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						CATTGAAGTTGATCATTCTCA	0.388																																						ENST00000297540.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						c.(1156-1158)Gat>Aat		phosphorylated adaptor for RNA export							99	103	102					5																	125960507		2203	4300	6503	SO:0001583	missense	51808				ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly	Cajal body|cytosol	RNA binding	g.chr5:125960507G>A	AK023255	CCDS4138.1	5q23.2	2011-05-24	2008-10-01	2008-10-01	ENSG00000164902	ENSG00000164902			10241	protein-coding gene	gene with protein product		604924	"RNA U, small nuclear RNA export adaptor (phosphorylation regulated)"	RNUXA		10786834	Standard	NM_032177		Approved	FLJ13193	uc003kua.2	Q9H814	OTTHUMG00000163273	ENST00000297540.4:c.1156G>A	5.37:g.125960507G>A	ENSP00000297540:p.Asp386Asn						p.D386N	NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN			5	1851	+			386					Q9H8W1	Missense_Mutation	SNP	ENST00000297540.4	37	c.1156G>A	CCDS4138.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384151	0.82792	.	.	ENSG00000164902	ENST00000297540	T	0.50813	0.73	5.4	5.4	0.78164	.	0.129309	0.51477	D	0.000096	T	0.46756	0.1409	L	0.29908	0.895	0.42832	D	0.994027	D	0.62365	0.991	P	0.47864	0.559	T	0.49173	-0.8967	10	0.54805	T	0.06	-22.2971	19.1814	0.93625	0.0:0.0:1.0:0.0	.	386	Q9H814	PHAX_HUMAN	N	386	ENSP00000297540:D386N	ENSP00000297540:D386N	D	+	1	0	PHAX	125988406	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	6.173000	0.71937	2.538000	0.85594	0.563000	0.77884	GAT		0.388	PHAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250924.1	NM_032177		14	53	0	0	0	1	0	14	53					A	125960507	G	A	125960507	3	1	475	1	0	0	0	0	1	0	0	0	11813	1290	45	2	1174	2	PHAX	5	125960507	Missense_Mutation	SNP	G	TCGA-J8-A4HY-01A-11D-A257-08	61072804	125960507	54954753	10	9707											
VARS2	57176	broad.mit.edu	37	chr6	30885522	30885522	+	Frame_Shift_Del	DEL	C	C	-													cagcttcgactgcctggctgCcccacccccgtgtcttttgg							TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr6:30885522delC	ENST00000321897.5	+	9	1556	c.924delC	c.(922-924)tgcfs	p.C308fs	VARS2_ENST00000541562.1_Frame_Shift_Del_p.C338fs|VARS2_ENST00000542001.1_Frame_Shift_Del_p.C168fs|VARS2_ENST00000416670.2_Frame_Shift_Del_p.C308fs			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	308					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TGCCTGGCTGCCCCACCCCCG	0.612																																						ENST00000321897.5																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						c.(922-924)tgfs		valyl-tRNA synthetase 2, mitochondrial							99	82	88					6																	30885522		2192	4293	6485	SO:0001589	frameshift_variant	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30885522delC	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	21642	protein-coding gene	gene with protein product	"valine tRNA ligase 2, mitochondrial"	612802	"valyl-tRNA synthetase 2-like", "valyl-tRNA synthetase like", "valyl-tRNA synthetase 2, mitochondrial (putative)"	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.924delC	6.37:g.30885522delC	ENSP00000316092:p.Cys308fs					VARS2_ENST00000541562.1_Frame_Shift_Del_p.C338fs|VARS2_ENST00000416670.2_Frame_Shift_Del_p.C308fs|VARS2_ENST00000542001.1_Frame_Shift_Del_p.C168fs	p.C308fs			Q5ST30	SYVM_HUMAN			9	1556	+			308					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Frame_Shift_Del	DEL	ENST00000321897.5	37	c.924delC	CCDS34387.1																																																																																				0.612	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		2	4						2	4	---	---	---	---	-	30885522	C	-	30885522	7	5	475	1	0	1	0	1	0	0	0	0	17121	747	26	0	1052	0	VARS2	6	30885522	Frame_Shift_Del	DEL	C	TCGA-J8-A4HY-01A-11D-A257-08		30885522	140229545	11	9708											
DGKB	1607	broad.mit.edu	37	chr7	14620522	14620522	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatcttgctagatcattgCcagtcccaagaggcagaatc	10	11	2	3	rs371033055		TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr7:14620522C>T	ENST00000403951.2	-	19	1996	c.1577G>A	c.(1576-1578)gGc>gAc	p.G526D	DGKB_ENST00000406247.3_Missense_Mutation_p.G526D|DGKB_ENST00000402815.1_Missense_Mutation_p.G525D|DGKB_ENST00000258767.5_Missense_Mutation_p.G526D|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Missense_Mutation_p.G526D|DGKB_ENST00000407950.1_Missense_Mutation_p.G518D|DGKB_ENST00000444700.2_Missense_Mutation_p.G507D			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	526	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						TAGATCATTGCCAGTCCCAAG	0.418																																						ENST00000403951.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1576-1578)gGc>gAc		diacylglycerol kinase, beta 90kDa	Phosphatidylserine(DB00144)						87	80	82					7																	14620522		1950	4165	6115	SO:0001583	missense	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14620522C>T	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"EF-hand domain containing"	2850	protein-coding gene	gene with protein product		604070	"diacylglycerol kinase, beta (90kD)"	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.1577G>A	7.37:g.14620522C>T	ENSP00000385780:p.Gly526Asp					DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000407950.1_Missense_Mutation_p.G518D|DGKB_ENST00000406247.3_Missense_Mutation_p.G526D|DGKB_ENST00000258767.5_Missense_Mutation_p.G526D|DGKB_ENST00000399322.3_Missense_Mutation_p.G526D|DGKB_ENST00000444700.2_Missense_Mutation_p.G507D|DGKB_ENST00000402815.1_Missense_Mutation_p.G525D	p.G526D			Q9Y6T7	DGKB_HUMAN			19	1996	-			526			DAGKc.		A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	c.1577G>A	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	C	35	5.543468	0.96474	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.77	5.77	0.91146	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.71762	0.3378	H	0.96633	3.855	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	T	0.81488	-0.0910	10	0.87932	D	0	.	19.9803	0.97323	0.0:1.0:0.0:0.0	.	525;507;526;526	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	D	526;526;526;525;518;507;526	ENSP00000385780:G526D;ENSP00000382260:G526D;ENSP00000258767:G526D;ENSP00000384909:G525D;ENSP00000385031:G518D;ENSP00000388451:G507D;ENSP00000386066:G526D	ENSP00000258767:G526D	G	-	2	0	DGKB	14587047	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	7.814000	0.86154	2.718000	0.92993	0.591000	0.81541	GGC		0.418	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		16	27	0	0	0	1	0	16	27					T	14620522	C	T	14620522	3	4	475	1	0	0	0	0	1	0	0	0	4466	739	26	2	884	2	DGKB	7	14620522	Missense_Mutation	SNP	C	TCGA-J8-A4HY-01A-11D-A257-08		14620522	144518141	12	9709											
FKBP9	11328	broad.mit.edu	37	chr7	33014319	33014319	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgttgggatgtgcgtaaaCgagagacgtttcgtgaagat	14	5	0	3	rs572685017		TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr7:33014319C>T	ENST00000242209.4	+	2	481	c.312C>T	c.(310-312)aaC>aaT	p.N104N	FKBP9_ENST00000538443.1_Intron|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Silent_p.N157N	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	104	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.N104K(1)		central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			TGTGCGTAAACGAGAGACGTT	0.468													C|||	1	0.000199681	0	0	5008	,	,		20694	0		0.001	False		,,,				2504	0					ENST00000242209.4																			1	Substitution - Missense(1)	p.N104K(1)	lung(1)	central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39						c.(310-312)aaC>aaT		FK506 binding protein 9, 63 kDa							146	130	136					7																	33014319		2203	4300	6503	SO:0001819	synonymous_variant	11328				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:33014319C>T	AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"EF-hand domain containing"	3725	protein-coding gene	gene with protein product			"FK506-binding protein 9 (63 kD)"			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.312C>T	7.37:g.33014319C>T						FKBP9_ENST00000538336.1_Silent_p.N157N|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_Intron	p.N104N	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0156)		2	481	+			104			PPIase FKBP-type 1.		B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Silent	SNP	ENST00000242209.4	37	c.312C>T	CCDS5439.1																																																																																				0.468	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		22	99	0	0	0	1	0	22	99					T	33014319	C	T	33014319	2	4	475	1	0	0	0	0	0	0	0	1	5915	535	19	1		1	FKBP9	7	33014319	Silent	SNP	C	TCGA-J8-A4HY-01A-11D-A257-08	18393797	33014319	126124344	13	9710											
POR	5447	broad.mit.edu	37	chr7	75614476	75614476	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcgaccacctgtgtgagcTgctgccgcgcctgcaggccc	12	17	0	1			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr7:75614476T>C	ENST00000461988.1	+	12	1454	c.1349T>C	c.(1348-1350)cTg>cCg	p.L450P	POR_ENST00000419840.1_Missense_Mutation_p.L264P|POR_ENST00000450476.1_Missense_Mutation_p.L349P|TMEM120A_ENST00000338761.4_RNA|TMEM120A_ENST00000493111.2_RNA|POR_ENST00000439269.1_Missense_Mutation_p.L188P|POR_ENST00000545601.1_Missense_Mutation_p.L258P|POR_ENST00000394893.1_Missense_Mutation_p.L450P	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	447	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	CTGTGTGAGCTGCTGCCGCGC	0.697																																						ENST00000394893.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9						c.(1348-1350)cTg>cCg		P450 (cytochrome) oxidoreductase	Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)						17	24	22					7																	75614476		2060	4179	6239	SO:0001583	missense	5447				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity	g.chr7:75614476T>C	AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413	ENST00000461988.1:c.1349T>C	7.37:g.75614476T>C	ENSP00000419970:p.Leu450Pro					POR_ENST00000461988.1_Missense_Mutation_p.L450P|POR_ENST00000419840.1_Missense_Mutation_p.L264P|POR_ENST00000450476.1_Missense_Mutation_p.L349P|POR_ENST00000545601.1_Missense_Mutation_p.L258P|POR_ENST00000439269.1_Missense_Mutation_p.L188P	p.L450P			P16435	NCPR_HUMAN			12	1369	+			447			FAD-binding FR-type.		Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	Missense_Mutation	SNP	ENST00000461988.1	37	c.1349T>C	CCDS5579.1	.	.	.	.	.	.	.	.	.	.	T	12.94	2.087413	0.36855	.	.	ENSG00000127948	ENST00000461988;ENST00000419840;ENST00000394893;ENST00000545601;ENST00000450476;ENST00000439269	D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.14	2.56	0.30785	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);NADPH-cytochrome p450 reductase, FAD-binding, alpha-helical domain-3 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.143577	0.48286	D	0.000187	D	0.93926	0.8056	H	0.96633	3.855	0.80722	D	1	P;D;D;D	0.89917	0.954;1.0;0.999;0.999	P;D;D;D	0.87578	0.824;0.998;0.992;0.994	D	0.93402	0.6761	10	0.87932	D	0	-31.8255	9.3623	0.38203	0.2846:0.0:0.0:0.7153	.	447;349;258;456	P16435;E7EVY7;F5H468;Q59ED7	NCPR_HUMAN;.;.;.	P	450;264;450;258;349;188	ENSP00000419970:L450P;ENSP00000414244:L264P;ENSP00000378355:L450P;ENSP00000446149:L258P;ENSP00000416572:L349P;ENSP00000412490:L188P	ENSP00000378355:L450P	L	+	2	0	POR	75452412	1.000000	0.71417	1.000000	0.80357	0.016000	0.09150	5.978000	0.70501	0.770000	0.33336	-0.496000	0.04628	CTG		0.697	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252796.7	NM_000941		6	35	0	0	0	1	0	6	35					C	75614476	T	C	75614476	3	2	475	1	0	0	0	0	1	0	0	0	12257	1580	55	3	1391	3	POR	7	75614476	Missense_Mutation	SNP	T	TCGA-J8-A4HY-01A-11D-A257-08	42600157	75614476	83524187	14	9711											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		10	54	0	0	0	1	0	10	54					T	140453136	A	T	140453136	3	4	475	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-J8-A4HY-01A-11D-A257-08	64838660	140453136	18685527	15	9712											
DLGAP2	9228	broad.mit.edu	37	chr8	1497493	1497493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggagggcaagccccggcccGgcatgagcagctggtggagc	18	13	0	1			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr8:1497493G>A	ENST00000421627.2	+	2	768	c.634G>A	c.(634-636)Ggc>Agc	p.G212S		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	291					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GCCCCGGCCCGGCATGAGCAG	0.706																																						ENST00000421627.2																			0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(634-636)Ggc>Agc		discs, large (Drosophila) homolog-associated protein 2							28	39	35					8																	1497493		2193	4294	6487	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1497493G>A	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"discs, large (Drosophila) homolog-associated protein 2"			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.634G>A	8.37:g.1497493G>A	ENSP00000400258:p.Gly212Ser						p.G212S	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	2	768	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	291					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.634G>A	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822325	0.32237	.	.	ENSG00000198010	ENST00000356067;ENST00000421627	T	0.40756	1.02	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.62588	0.2440	M	0.65320	2	0.50039	D	0.99984	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.56038	-0.8045	10	0.25106	T	0.35	-20.8504	19.1994	0.93704	0.0:0.0:1.0:0.0	.	291;291	Q9P1A6-2;Q9P1A6	.;DLGP2_HUMAN	S	257;212	ENSP00000400258:G212S	ENSP00000348366:G257S	G	+	1	0	DLGAP2	1484900	1.000000	0.71417	0.103000	0.21229	0.015000	0.08874	3.889000	0.56212	2.534000	0.85438	0.655000	0.94253	GGC		0.706	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		17	36	0	0	0	1	0	17	36					A	1497493	G	A	1497493	3	1	475	1	0	0	0	0	1	0	0	0	4560	1116	39	1	636	1	DLGAP2	8	1497493	Missense_Mutation	SNP	G	TCGA-J8-A4HY-01A-11D-A257-08		1497493	144866529	16	9713											
C8orf73	642475	broad.mit.edu	37	chr8	144650732	144650733	+	Frame_Shift_Ins	INS	-	-	CC													gctgctgacctcagcagcgtINSccctgctggggtcatgcagg							TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr8:144650732_144650733insCC	ENST00000398882.3	-	10	1889_1890	c.1633_1634insGG	c.(1633-1635)gacfs	p.D545fs	MROH6_ENST00000524906.1_5'UTR|MROH6_ENST00000532704.1_5'Flank|MROH6_ENST00000534459.1_5'UTR|MROH6_ENST00000533679.1_5'UTR	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	545																	CTCAGCAGCGTCCCTGCTGGGG	0.698																																						ENST00000398882.3																			0											c.(1633-1635)cgcfs		maestro heat-like repeat family member 6																																				SO:0001589	frameshift_variant	642475							g.chr8:144650732_144650733insCC	AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"maestro heat-like repeat containing"	27814	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 73"	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.1632_1633dupGG	8.37:g.144650733_144650734dupCC	ENSP00000381857:p.Asp545fs					MROH6_ENST00000534459.1_5'UTR|MROH6_ENST00000533679.1_5'UTR|MROH6_ENST00000524906.1_5'UTR	p.R545fs	NM_001100878.1	NP_001094348.1					10	1889_1890	-								A8MWB1	Frame_Shift_Ins	INS	ENST00000398882.3	37	c.1633_1634insGG	CCDS47928.1																																																																																				0.698	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3	NM_001100878		2	4						2	4	---	---	---	---	CC	144650733	-	CC	144650732	7	5	475	1	0	1	1	0	0	0	0	0	2435	1667	58	0	545	0	C8orf73	8	144650732	Frame_Shift_Ins	INS	-	TCGA-J8-A4HY-01A-11D-A257-08	143153239	144650732	1713290	17	9714											
AKAP2	11217	broad.mit.edu	37	chr9	112899916	112899916	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatctgtcaatgtctccttgAcccaagaggagcttgactct	9	11	4	3			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr9:112899916A>G	ENST00000259318.7	+	2	1606	c.1399A>G	c.(1399-1401)Acc>Gcc	p.T467A	AKAP2_ENST00000555236.1_Missense_Mutation_p.T698A|AKAP2_ENST00000434623.2_Missense_Mutation_p.T556A|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.T698A|AKAP2_ENST00000510514.5_Missense_Mutation_p.T698A|AKAP2_ENST00000374525.1_Missense_Mutation_p.T556A|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.T698A	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	467										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						TGTCTCCTTGACCCAAGAGGA	0.502																																						ENST00000374530.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(2092-2094)Acc>Gcc									112	111	111					9																	112899916		2203	4300	6503	SO:0001583	missense	0						enzyme binding	g.chr9:112899916A>G	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"A-kinase anchor proteins"	372	protein-coding gene	gene with protein product	"protein kinase A2"	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.1399A>G	9.37:g.112899916A>G	ENSP00000259318:p.Thr467Ala					PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.T698A|AKAP2_ENST00000555236.1_Missense_Mutation_p.T698A|AKAP2_ENST00000259318.7_Missense_Mutation_p.T467A|AKAP2_ENST00000510514.5_Missense_Mutation_p.T698A|AKAP2_ENST00000434623.2_Missense_Mutation_p.T556A|AKAP2_ENST00000374525.1_Missense_Mutation_p.T556A	p.T698A	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			8	2272	+			467					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.2092A>G	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	A	15.41	2.824775	0.50739	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.44083	2.26;2.26;2.26;2.26;1.51;0.93;0.93;1.53	5.86	4.75	0.60458	.	0.156460	0.56097	D	0.000022	T	0.23054	0.0557	N	0.08118	0	0.31740	N	0.635885	P;P;P;P;P;B;B;B	0.47302	0.495;0.783;0.893;0.783;0.677;0.372;0.372;0.255	B;B;B;B;B;B;B;B	0.41946	0.077;0.287;0.371;0.287;0.15;0.121;0.121;0.057	T	0.12218	-1.0556	10	0.29301	T	0.29	-35.7256	10.5434	0.45045	0.6524:0.3476:0.0:0.0	.	467;556;550;556;557;698;698;516	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	A	698;698;698;698;556;556;516;467	ENSP00000363654:T698A;ENSP00000305861:T698A;ENSP00000451476:T698A;ENSP00000421522:T698A;ENSP00000404782:T556A;ENSP00000363649:T556A;ENSP00000419268:T516A;ENSP00000259318:T467A	ENSP00000259318:T467A	T	+	1	0	PALM2-AKAP2;AKAP2	111939737	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.913000	0.69957	2.225000	0.72522	0.533000	0.62120	ACC		0.502	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		21	88	0	0	0	1	0	21	88					G	112899916	A	G	112899916	3	3	475	1	0	0	0	0	1	0	0	0	451	275	10	3	1672	3	AKAP2	9	112899916	Missense_Mutation	SNP	A	TCGA-J8-A4HY-01A-11D-A257-08		112899916	28313515	18	9715											
ABL1	25	broad.mit.edu	37	chr9	133760038	133760038	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acgcctccccccaggctggtGaaaaagaatgaggaagctgc	12	12	0	3			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr9:133760038G>A	ENST00000318560.5	+	11	2742	c.2361G>A	c.(2359-2361)gtG>gtA	p.V787V		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	787	Pro-rich.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	CCAGGCTGGTGAAAAAGAATG	0.612			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"T, Mis"	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"BCR, ETV6, NUP214"		"CML, ALL, T-ALL"		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(2359-2361)gtG>gtA		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						24	28	26					9																	133760038		2201	4299	6500	SO:0001819	synonymous_variant	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133760038G>A	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.2361G>A	9.37:g.133760038G>A							p.V787V	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	11	2742	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	787			Pro-rich.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Silent	SNP	ENST00000318560.5	37	c.2361G>A	CCDS35166.1																																																																																				0.612	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		22	27	0	0	0	1	0	22	27					A	133760038	G	A	133760038	2	1	475	1	0	0	0	0	0	0	0	1	92	1277	45	2		2	ABL1	9	133760038	Silent	SNP	G	TCGA-J8-A4HY-01A-11D-A257-08	20860122	133760038	7453393	19	9716											
MUC2	4583	broad.mit.edu	37	chr11	1083312	1083312	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgtggtcgtcaggcaggaaGaacgatggtgggtacctgct	16	7	1	1			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr11:1083312G>A	ENST00000441003.2	+	16	2239	c.2212G>A	c.(2212-2214)Gaa>Aaa	p.E738K	MUC2_ENST00000359061.5_Missense_Mutation_p.E738K	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	738					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CAGGCAGGAAGAACGATGGTG	0.662																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(2212-2214)Gaa>Aaa		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						24	28	27					11																	1083312		1977	4138	6115	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1083312G>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.2212G>A	11.37:g.1083312G>A	ENSP00000415183:p.Glu738Lys					MUC2_ENST00000359061.5_Missense_Mutation_p.E738K	p.E738K	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	16	2239	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	738					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.2212G>A		.	.	.	.	.	.	.	.	.	.	g	12.91	2.078905	0.36662	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.21361	2.01;2.01	4.12	3.21	0.36854	.	0.188025	0.30949	U	0.008548	T	0.16938	0.0407	L	0.49571	1.57	0.26033	N	0.981717	B	0.22909	0.077	B	0.24394	0.053	T	0.29731	-1.0002	10	0.06494	T	0.89	.	11.7993	0.52118	0.0873:0.0:0.9127:0.0	.	738	E7EUV1	.	K	738	ENSP00000415183:E738K;ENSP00000351956:E738K	ENSP00000351956:E738K	E	+	1	0	MUC2	1073312	0.978000	0.34361	0.810000	0.32431	0.135000	0.20990	3.258000	0.51507	0.955000	0.37878	0.457000	0.33378	GAA		0.662	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		6	13	0	0	0	1	0	6	13					A	1083312	G	A	1083312	3	1	475	1	0	0	0	0	1	0	0	0	9975	943	33	2	2274	2	MUC2	11	1083312	Missense_Mutation	SNP	G	TCGA-J8-A4HY-01A-11D-A257-08		1083312	133923204	20	9717											
DKFZp761E198	91056	broad.mit.edu	37	chr11	65546685	65546685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggcctttctcctcttcttCctcctcggcacagagcaggc	8	17	3	1			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr11:65546685C>T	ENST00000532090.2	-	2	1489	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K		NM_138368.4	NP_612377.4	Q2VPB7	AP5B1_HUMAN	adaptor-related protein complex 5, beta 1 subunit	427					endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|lysosomal membrane (GO:0005765)				lung(1)	1						TCCTCTTCTTCCTCCTCGGCA	0.667																																						ENST00000532090.2																			0				lung(1)	1						c.(1279-1281)Gaa>Aaa		adaptor-related protein complex 5, beta 1 subunit							19	23	22					11																	65546685		2025	4173	6198	SO:0001583	missense	91056						protein binding	g.chr11:65546685C>T	JQ313135	CCDS58146.1	11q13.1	2012-02-29			ENSG00000254470	ENSG00000254470			25104	protein-coding gene	gene with protein product		614367				22022230	Standard	NM_138368		Approved	PP1030, AP-5, DKFZp761E198	uc031qbm.1	Q2VPB7	OTTHUMG00000166593	ENST00000532090.2:c.1279G>A	11.37:g.65546685C>T	ENSP00000454303:p.Glu427Lys						p.E427K	NM_138368.4	NP_612377.4	Q2VPB7	YK046_HUMAN			2	1489	-			370					A1L0S6|H6WUK2|Q0D2Q2|Q8N3J7|Q8WYH6	Missense_Mutation	SNP	ENST00000532090.2	37	c.1279G>A	CCDS58146.1																																																																																				0.667	AP5B1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390636.2	NM_138368		7	28	0	0	0	1	0	7	28					T	65546685	C	T	65546685	3	4	475	1	0	0	0	0	1	0	0	0	4543	864	30	2	1361	2	DKFZp761E198	11	65546685	Missense_Mutation	SNP	C	TCGA-J8-A4HY-01A-11D-A257-08	64463373	65546685	69459831	21	9718											
PC	5091	broad.mit.edu	37	chr11	66617415	66617415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccttccctaccttagagCgaaagggttcggggaacccc	13	13	0	1			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr11:66617415C>T	ENST00000393958.2	-	19	2984	c.2891G>A	c.(2890-2892)cGc>cAc	p.R964H	PC_ENST00000393955.2_Missense_Mutation_p.R964H|PC_ENST00000393960.1_Missense_Mutation_p.R964H|PC_ENST00000528224.1_5'Flank|PC_ENST00000529047.1_Missense_Mutation_p.R84H	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	964					biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	TACCTTAGAGCGAAAGGGTTC	0.627																																						ENST00000393960.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2890-2892)cGc>cAc		pyruvate carboxylase	Biotin(DB00121)|Pyruvic acid(DB00119)						33	38	36					11																	66617415		2200	4295	6495	SO:0001583	missense	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66617415C>T	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.2891G>A	11.37:g.66617415C>T	ENSP00000377530:p.Arg964His					PC_ENST00000393955.2_Missense_Mutation_p.R964H|PC_ENST00000529047.1_Missense_Mutation_p.R84H|PC_ENST00000393958.2_Missense_Mutation_p.R964H	p.R964H	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	20	3172	-		Melanoma(852;0.0525)	964					B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	c.2891G>A	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325727	0.81580	.	.	ENSG00000173599	ENST00000529047;ENST00000393955;ENST00000393958;ENST00000393960	D;D;D;D	0.96265	-1.85;-3.96;-3.96;-3.96	5.01	5.01	0.66863	Carboxylase, conserved domain (1);	0.000000	0.85682	D	0.000000	D	0.98848	0.9611	H	0.98089	4.145	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.99316	1.0905	10	0.87932	D	0	-27.0792	15.8561	0.78979	0.0:1.0:0.0:0.0	.	964	P11498	PYC_HUMAN	H	84;964;964;964	ENSP00000435905:R84H;ENSP00000377527:R964H;ENSP00000377530:R964H;ENSP00000377532:R964H	ENSP00000377527:R964H	R	-	2	0	PC	66373991	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	5.653000	0.67967	2.603000	0.88011	0.462000	0.41574	CGC		0.627	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		13	45	0	0	0	1	0	13	45					T	66617415	C	T	66617415	3	4	475	1	0	0	0	0	1	0	0	0	11497	768	27	1	661	1	PC	11	66617415	Missense_Mutation	SNP	C	TCGA-J8-A4HY-01A-11D-A257-08	1070730	66617415	68389101	22	9719											
MFRP	83552	broad.mit.edu	37	chr11	119214632	119214632	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaagttgtggaactgtagttCtatgctgtgtccggcaggca	14	7	1	0			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr11:119214632C>A	ENST00000530681.1	-	9	1162	c.1018G>T	c.(1018-1020)Gaa>Taa	p.E340*	C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000555262.1_Nonsense_Mutation_p.E340*|MFRP_ENST00000529147.1_5'Flank|MFRP_ENST00000449574.2_Nonsense_Mutation_p.E340*|MFRP_ENST00000360167.4_Intron	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	340	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		AACTGTAGTTCTATGCTGTGT	0.582																																						ENST00000555262.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18						c.(1018-1020)Gaa>Taa		membrane frizzled-related protein							140	115	123					11																	119214632		2199	4295	6494	SO:0001587	stop_gained	83552							g.chr11:119214632C>A	AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"membrane-type frizzled-related protein", "complement C1q tumor necrosis factor-related protein 5 precursor variant 1"	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.1018G>T	11.37:g.119214632C>A	ENSP00000456533:p.Glu340*					MFRP_ENST00000449574.2_Nonsense_Mutation_p.E340*|C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000530681.1_Nonsense_Mutation_p.E340*|MFRP_ENST00000360167.4_Intron	p.E340*	NM_001278431.1	NP_001265360.1				BRCA - Breast invasive adenocarcinoma(274;3.84e-05)	9	1177	-		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)						B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Nonsense_Mutation	SNP	ENST00000530681.1	37	c.1018G>T	CCDS8421.1	.	.	.	.	.	.	.	.	.	.	C	36	5.835468	0.97003	.	.	ENSG00000235718	ENST00000555262;ENST00000449574	.	.	.	5.37	3.43	0.39272	.	0.476046	0.23062	N	0.052376	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-0.5134	6.1658	0.20390	0.0:0.6743:0.1557:0.1699	.	.	.	.	X	340	.	ENSP00000391664:E340X	E	-	1	0	MFRP	118719842	0.848000	0.29623	0.008000	0.14137	0.837000	0.47467	1.433000	0.34947	0.687000	0.31509	0.563000	0.77884	GAA		0.582	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000415179.1	NM_031433		25	73	1	0	2.41591e-17	1	2.5797e-17	25	73					A	119214632	C	A	119214632	4	1	475	1	0	0	0	0	0	1	0	0	9526	922	32	4	741	4	MFRP	11	119214632	Nonsense_Mutation	SNP	C	TCGA-J8-A4HY-01A-11D-A257-08	52597217	119214632	15791884	23	9720											
SORL1	6653	broad.mit.edu	37	chr11	121437783	121437783	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acctgatgtgtgactgccctCagggctatcagctcaagaac	10	12	3	3			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr11:121437783C>T	ENST00000260197.7	+	22	3313	c.3184C>T	c.(3184-3186)Cag>Tag	p.Q1062*	SORL1_ENST00000525532.1_Nonsense_Mutation_p.Q6*	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1062	EGF-like.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGACTGCCCTCAGGGCTATCA	0.527																																						ENST00000260197.7																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(3184-3186)Cag>Tag		sortilin-related receptor, L(DLR class) A repeats containing							161	128	139					11																	121437783		2203	4299	6502	SO:0001587	stop_gained	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121437783C>T	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.3184C>T	11.37:g.121437783C>T	ENSP00000260197:p.Gln1062*					SORL1_ENST00000525532.1_Nonsense_Mutation_p.Q6*	p.Q1062*	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	22	3313	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1062			EGF-like.		B2RNX7|Q92856	Nonsense_Mutation	SNP	ENST00000260197.7	37	c.3184C>T	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	C	37	6.217899	0.97385	.	.	ENSG00000137642	ENST00000260197;ENST00000525532	.	.	.	4.38	3.45	0.39498	.	1.461070	0.04599	N	0.398153	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	13.9597	0.64170	0.1526:0.8474:0.0:0.0	.	.	.	.	X	1062;6	.	ENSP00000260197:Q1062X	Q	+	1	0	SORL1	120942993	0.000000	0.05858	0.308000	0.25141	0.933000	0.57130	0.764000	0.26532	0.922000	0.37019	0.467000	0.42956	CAG		0.527	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		7	32	0	0	0	1	0	7	32					T	121437783	C	T	121437783	4	4	475	1	0	0	0	0	0	1	0	0	14934	827	29	2	3270	2	SORL1	11	121437783	Nonsense_Mutation	SNP	C	TCGA-J8-A4HY-01A-11D-A257-08	2223151	121437783	13568733	24	9721											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		3	17	1	0	0.115264	1	0.115264	3	17					A	25398284	C	A	25398284	3	1	475	1	0	0	0	0	1	0	0	0	8438	507	18	4	671	4	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-J8-A4HY-01A-11D-A257-08		25398284	108453611	25	9722											
SLC4A8	9498	broad.mit.edu	37	chr12	51863511	51863511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttctgttcctgtactgtgCctgcatgtcacctgtcatca	7	13	4	0			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr12:51863511C>T	ENST00000453097.2	+	12	1680	c.1463C>T	c.(1462-1464)gCc>gTc	p.A488V	SLC4A8_ENST00000394856.1_Missense_Mutation_p.A435V|SLC4A8_ENST00000514353.3_Missense_Mutation_p.A435V|SLC4A8_ENST00000358657.3_Missense_Mutation_p.A515V|SLC4A8_ENST00000546663.1_3'UTR|SLC4A8_ENST00000535225.2_Missense_Mutation_p.A435V	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CTGTACTGTGCCTGCATGTCA	0.512																																						ENST00000453097.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55						c.(1462-1464)gCc>gTc		solute carrier family 4, sodium bicarbonate cotransporter, member 8							246	209	222					12																	51863511		2203	4300	6503	SO:0001583	missense	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51863511C>T	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"Solute carriers"	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.1463C>T	12.37:g.51863511C>T	ENSP00000405812:p.Ala488Val					SLC4A8_ENST00000546663.1_3'UTR|SLC4A8_ENST00000535225.2_Missense_Mutation_p.A435V|SLC4A8_ENST00000514353.3_Missense_Mutation_p.A435V|SLC4A8_ENST00000394856.1_Missense_Mutation_p.A435V|SLC4A8_ENST00000358657.3_Missense_Mutation_p.A515V	p.A488V	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	12	1680	+			488						Missense_Mutation	SNP	ENST00000453097.2	37	c.1463C>T	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	C	36	5.663632	0.96745	.	.	ENSG00000050438	ENST00000535225;ENST00000358657;ENST00000453097;ENST00000394856;ENST00000319957;ENST00000514353;ENST00000551071	D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76	5.69	5.69	0.88448	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93051	0.7788	M	0.89534	3.04	0.80722	D	1	D;D;D;D;D;D	0.89917	0.978;0.992;1.0;0.998;0.987;0.999	P;P;D;D;D;D	0.91635	0.715;0.899;0.999;0.98;0.967;0.981	D	0.93701	0.7015	10	0.87932	D	0	.	18.9789	0.92748	0.0:1.0:0.0:0.0	.	435;515;435;488;488;488	E7EML0;Q2Y0W8-2;F5GZ31;Q2Y0W8;Q2Y0W8-3;Q2Y0W8-6	.;.;.;S4A8_HUMAN;.;.	V	435;515;488;435;488;435;435	ENSP00000441520:A435V;ENSP00000351483:A515V;ENSP00000405812:A488V;ENSP00000378325:A435V;ENSP00000442561:A435V	ENSP00000315789:A488V	A	+	2	0	SLC4A8	50149778	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.865000	0.98341	0.655000	0.94253	GCC		0.512	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		19	82	0	0	0	1	0	19	82					T	51863511	C	T	51863511	3	4	475	1	0	0	0	0	1	0	0	0	14659	739	26	2	1509	2	SLC4A8	12	51863511	Missense_Mutation	SNP	C	TCGA-J8-A4HY-01A-11D-A257-08	26465227	51863511	81988384	26	9723											
UTP20	27340	broad.mit.edu	37	chr12	101764298	101764298	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcctatgctgaggaggacaTttatgatacttcaagacaag	11	7	1	3			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr12:101764298T>G	ENST00000261637.4	+	50	6818	c.6644T>G	c.(6643-6645)aTt>aGt	p.I2215S		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2215					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GAGGAGGACATTTATGATACT	0.418																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(6643-6645)aTt>aGt		UTP20, small subunit (SSU) processome component, homolog (yeast)							173	161	165					12																	101764298		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101764298T>G	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.6644T>G	12.37:g.101764298T>G	ENSP00000261637:p.Ile2215Ser						p.I2215S	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			50	6818	+			2215					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.6644T>G	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.951584	0.92660	.	.	ENSG00000120800	ENST00000261637	T	0.64260	-0.09	5.94	5.94	0.96194	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69824	0.3154	M	0.77103	2.36	0.80722	D	1	P	0.40578	0.722	B	0.43809	0.432	T	0.74604	-0.3610	10	0.87932	D	0	-13.8368	16.0522	0.80772	0.0:0.0:0.0:1.0	.	2215	O75691	UTP20_HUMAN	S	2215	ENSP00000261637:I2215S	ENSP00000261637:I2215S	I	+	2	0	UTP20	100288429	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.988000	0.88194	2.269000	0.75478	0.455000	0.32223	ATT		0.418	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		28	88	0	0	0	1	0	28	88					G	101764298	T	G	101764298	3	3	475	1	0	0	0	0	1	0	0	0	17096	1493	52	5	6842	5	UTP20	12	101764298	Missense_Mutation	SNP	T	TCGA-J8-A4HY-01A-11D-A257-08	49900787	101764298	32087597	27	9724											
WDR66	144406	broad.mit.edu	37	chr12	122359475	122359475	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaagtccaagagaaggaGgcttcaggaatacaggaaga	15	5	1	3			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr12:122359475G>A	ENST00000288912.4	+	2	1118	c.264G>A	c.(262-264)gaG>gaA	p.E88E	WDR66_ENST00000397454.2_Silent_p.E88E	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	88	Glu-rich.						calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		AAGAGAAGGAGGCTTCAGGAA	0.498																																					Esophageal Squamous(85;849 1794 49757 52143)	ENST00000288912.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(262-264)gaG>gaA		WD repeat domain 66							83	90	88					12																	122359475		1989	4167	6156	SO:0001819	synonymous_variant	144406						calcium ion binding	g.chr12:122359475G>A	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"WD repeat domain containing"	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.264G>A	12.37:g.122359475G>A						WDR66_ENST00000397454.2_Silent_p.E88E	p.E88E	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	2	1118	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		88			Glu-rich.		C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Silent	SNP	ENST00000288912.4	37	c.264G>A	CCDS41853.1																																																																																				0.498	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		15	59	0	0	0	1	0	15	59					A	122359475	G	A	122359475	2	1	475	1	0	0	0	0	0	0	0	1	17314	991	35	2		2	WDR66	12	122359475	Silent	SNP	G	TCGA-J8-A4HY-01A-11D-A257-08	20595177	122359475	11492420	28	9725											
GPC5	2262	broad.mit.edu	37	chr13	93518540	93518540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatttgcctctacagggatgCcagatgatatgaacttcagt	9	8	2	3			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr13:93518540C>T	ENST00000377067.3	+	8	1939	c.1567C>T	c.(1567-1569)Cca>Tca	p.P523S		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	523					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TACAGGGATGCCAGATGATAT	0.433																																						ENST00000377067.3																			0				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1567-1569)Cca>Tca		glypican 5							167	139	148					13																	93518540		2203	4300	6503	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:93518540C>T	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"Proteoglycans / Cell Surface : Glypicans"	4453	protein-coding gene	gene with protein product	"glypican proteoglycan 5"	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1567C>T	13.37:g.93518540C>T	ENSP00000366267:p.Pro523Ser						p.P523S	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN			8	1939	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	523					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.1567C>T	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.710927	0.48517	.	.	ENSG00000179399	ENST00000377067	T	0.46451	0.87	5.81	5.81	0.92471	.	0.000000	0.44688	D	0.000428	T	0.51517	0.1679	L	0.27053	0.805	0.37959	D	0.932898	D	0.89917	1.0	D	0.91635	0.999	T	0.46803	-0.9165	10	0.23891	T	0.37	-11.9822	17.2244	0.86965	0.0:1.0:0.0:0.0	.	523	P78333	GPC5_HUMAN	S	523	ENSP00000366267:P523S	ENSP00000366267:P523S	P	+	1	0	GPC5	92316541	1.000000	0.71417	0.998000	0.56505	0.573000	0.36030	4.835000	0.62781	2.734000	0.93682	0.650000	0.86243	CCA		0.433	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		7	43	0	0	0	1	0	7	43					T	93518540	C	T	93518540	3	4	475	1	0	0	0	0	1	0	0	0	6601	739	26	2	1597	2	GPC5	13	93518540	Missense_Mutation	SNP	C	TCGA-J8-A4HY-01A-11D-A257-08		93518540	21651338	29	9726											
TECPR2	9895	broad.mit.edu	37	chr14	102931589	102931591	+	In_Frame_Del	DEL	TGC	TGC	-													gcctctcaatcccagtctcaTgcttccagcctggataatga							TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr14:102931589_102931591delTGC	ENST00000359520.7	+	17	3978_3980	c.3752_3754delTGC	c.(3751-3756)atgctt>att	p.1251_1252ML>I	TECPR2_ENST00000558678.1_In_Frame_Del_p.1251_1252ML>I	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1251					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CCCAGTCTCATGCTTCCAGCCTG	0.502																																						ENST00000359520.7																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						c.(3751-3756)att>a		tectonin beta-propeller repeat containing 2																																				SO:0001651	inframe_deletion	9895						protein binding	g.chr14:102931589_102931591delTGC	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"KIAA0329"	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.3752_3754delTGC	14.37:g.102931589_102931591delTGC	ENSP00000352510:p.Met1251_Leu1252delinsIle					TECPR2_ENST00000558678.1_In_Frame_Del_p.ML1251del	p.ML1251del	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN			17	3978_3980	+			1251					A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	In_Frame_Del	DEL	ENST00000359520.7	37	c.3752_3754delTGC	CCDS32162.1																																																																																				0.502	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		10	54						10	54	---	---	---	---	-	102931591	TGC	-	102931589	7	5	475	1	0	1	0	1	0	0	0	0	15741	1464	51	0	3814	0	TECPR2	14	102931589	In_Frame_Del	DEL	TGC	TCGA-J8-A4HY-01A-11D-A257-08		102931589	4417951	30	9727											
RTF1	23168	broad.mit.edu	37	chr15	41750043	41750043	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagagcaagaactgttcaatCgcatagagaagagggaggtg	15	5	1	4			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr15:41750043C>T	ENST00000389629.4	+	4	643	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	211	Glu-rich.				DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		ACTGTTCAATCGCATAGAGAA	0.502																																						ENST00000389629.4																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18						c.(631-633)Cgc>Tgc		Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)							141	141	141					15																	41750043		2203	4300	6503	SO:0001583	missense	23168				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding	g.chr15:41750043C>T	D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"KIAA0252"	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.631C>T	15.37:g.41750043C>T	ENSP00000374280:p.Arg211Cys						p.R211C	NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)	4	643	+		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	211			Glu-rich.		Q96BX6	Missense_Mutation	SNP	ENST00000389629.4	37	c.631C>T	CCDS32200.2	.	.	.	.	.	.	.	.	.	.	C	15.84	2.952892	0.53293	.	.	ENSG00000137815	ENST00000389629	.	.	.	5.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.70090	0.3184	M	0.81341	2.54	0.80722	D	1	B	0.19073	0.033	B	0.12156	0.007	T	0.71842	-0.4470	9	0.87932	D	0	-0.9363	17.343	0.87301	0.1335:0.8665:0.0:0.0	.	211	Q92541	RTF1_HUMAN	C	211	.	ENSP00000374280:R211C	R	+	1	0	RTF1	39537335	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.754000	0.55189	2.697000	0.92050	0.655000	0.94253	CGC		0.502	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	NM_015138		22	76	0	0	0	1	0	22	76					T	41750043	C	T	41750043	3	4	475	1	0	0	0	0	1	0	0	0	13721	884	31	1	645	1	RTF1	15	41750043	Missense_Mutation	SNP	C	TCGA-J8-A4HY-01A-11D-A257-08		41750043	60781349	31	9728											
HIRIP3	8479	broad.mit.edu	37	chr16	30006000	30006000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcactgctctcctctcCcctctgtgcgggcaggtccc	8	20	4	0			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr16:30006000C>T	ENST00000279392.3	-	4	1296	c.466G>A	c.(466-468)Gga>Aga	p.G156R	INO80E_ENST00000567705.1_5'Flank|INO80E_ENST00000567254.1_5'Flank|INO80E_ENST00000563197.1_5'Flank|HIRIP3_ENST00000566471.1_5'Flank|HIRIP3_ENST00000564026.1_Intron|INO80E_ENST00000304516.7_5'Flank	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	156	Glu-rich.				chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						CTCTCCTCTCCCCTCTGTGCG	0.567																																						ENST00000279392.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						c.(466-468)Gga>Aga		HIRA interacting protein 3							194	205	202					16																	30006000		2197	4300	6497	SO:0001583	missense	8479				chromatin assembly or disassembly	nucleus	protein binding	g.chr16:30006000C>T	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"HIRA-interacting protein 3"			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118	ENST00000279392.3:c.466G>A	16.37:g.30006000C>T	ENSP00000279392:p.Gly156Arg					HIRIP3_ENST00000564026.1_Intron	p.G156R	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN			4	1296	-			156			Glu-rich.		H3BSR3|O75707|O75708	Missense_Mutation	SNP	ENST00000279392.3	37	c.466G>A	CCDS10664.1	.	.	.	.	.	.	.	.	.	.	C	1.278	-0.611273	0.03690	.	.	ENSG00000149929	ENST00000279392	T	0.34667	1.35	4.26	0.106	0.14540	.	0.956354	0.08578	N	0.925015	T	0.24586	0.0596	L	0.31926	0.97	0.09310	N	1	B	0.14012	0.009	B	0.15052	0.012	T	0.29941	-0.9995	10	0.21014	T	0.42	0.1425	7.238	0.26079	0.0:0.5096:0.0:0.4904	.	156	Q9BW71	HIRP3_HUMAN	R	156	ENSP00000279392:G156R	ENSP00000279392:G156R	G	-	1	0	HIRIP3	29913501	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.470000	0.02346	-0.029000	0.13827	-0.469000	0.05056	GGA		0.567	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609		61	224	0	0	0	1	0	61	224					T	30006000	C	T	30006000	3	4	475	1	0	0	0	0	1	0	0	0	7121	632	22	2	1220	2	HIRIP3	16	30006000	Missense_Mutation	SNP	C	TCGA-J8-A4HY-01A-11D-A257-08		30006000	60348753	32	9729											
COG4	25839	broad.mit.edu	37	chr16	70530189	70530189	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggaaggacatcttcgcctCgtcagtactctcgatgcctt	9	13	3	0			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr16:70530189C>T	ENST00000323786.5	-	12	1648	c.1627G>A	c.(1627-1629)Gag>Aag	p.E543K		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	539					Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				ATCTTCGCCTCGTCAGTACTC	0.527																																						ENST00000323786.5																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33						c.(1627-1629)Gag>Aag		component of oligomeric golgi complex 4							145	111	122					16																	70530189		2198	4300	6498	SO:0001583	missense	25839				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:70530189C>T	AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"Components of oligomeric golgi complex"	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.1627G>A	16.37:g.70530189C>T	ENSP00000315775:p.Glu543Lys						p.E543K	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN			12	1648	-		Ovarian(137;0.0694)	539					B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Missense_Mutation	SNP	ENST00000323786.5	37	c.1627G>A	CCDS10892.2	.	.	.	.	.	.	.	.	.	.	C	10.41	1.343455	0.24339	.	.	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000526700;ENST00000539961	T	0.46451	0.87	6.04	6.04	0.98038	.	0.131310	0.64402	D	0.000001	T	0.31888	0.0811	N	0.25647	0.755	0.80722	D	1	B;B;B;B	0.29862	0.006;0.011;0.011;0.259	B;B;B;B	0.20384	0.001;0.004;0.001;0.029	T	0.08126	-1.0737	10	0.15952	T	0.53	-21.3634	20.5792	0.99380	0.0:1.0:0.0:0.0	.	449;538;539;20	Q8N8L9;Q6PIW8;Q9H9E3;E9PQK0	.;.;COG4_HUMAN;.	K	543;539;20;201	ENSP00000315775:E543K	ENSP00000315775:E543K	E	-	1	0	COG4	69087690	0.998000	0.40836	0.996000	0.52242	0.955000	0.61496	3.781000	0.55394	2.873000	0.98535	0.561000	0.74099	GAG		0.527	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250326.3			9	36	0	0	0	1	0	9	36					T	70530189	C	T	70530189	3	4	475	1	0	0	0	0	1	0	0	0	3660	893	31	1	774	1	COG4	16	70530189	Missense_Mutation	SNP	C	TCGA-J8-A4HY-01A-11D-A257-08	40524189	70530189	19824564	33	9730											
CRHR1	1394	broad.mit.edu	37	chr17	43907507	43907507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactggaacctcatctccgCcttcatcctgcgcaacgcca	6	19	3	0			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr17:43907507C>T	ENST00000398285.3	+	7	569	c.569C>T	c.(568-570)gCc>gTc	p.A190V	CRHR1_ENST00000577353.1_Missense_Mutation_p.A161V|CRHR1_ENST00000339069.5_Missense_Mutation_p.A60V|CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000314537.5_Missense_Mutation_p.A161V|CRHR1_ENST00000352855.5_Missense_Mutation_p.A121V	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	190					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		CTCATCTCCGCCTTCATCCTG	0.627																																					Ovarian(110;57 1568 10207 38216 49865)	ENST00000314537.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24						c.(481-483)gCc>gTc		corticotropin releasing hormone receptor 1							127	130	129					17																	43907507		2188	4279	6467	SO:0001583	missense	1394				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr17:43907507C>T	L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"GPCR / Class B : Corticotropin-releasing factor receptors"	2357	protein-coding gene	gene with protein product	"corticotropin-releasing factor receptor"	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.569C>T	17.37:g.43907507C>T	ENSP00000381333:p.Ala190Val					CRHR1_ENST00000398285.3_Missense_Mutation_p.A190V|CRHR1_ENST00000577353.1_Missense_Mutation_p.A161V|CRHR1_ENST00000339069.5_Missense_Mutation_p.A60V|CRHR1_ENST00000352855.5_Missense_Mutation_p.A121V|CRHR1_ENST00000293493.7_5'UTR	p.A161V	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	6	707	+	Colorectal(2;0.0416)		190					B4DIE9|Q13008|Q4QRJ1|Q9UK64	Missense_Mutation	SNP	ENST00000398285.3	37	c.482C>T	CCDS45712.1	.	.	.	.	.	.	.	.	.	.	C	36	5.598710	0.96614	.	.	ENSG00000120088	ENST00000339069;ENST00000398285;ENST00000314537;ENST00000347197;ENST00000352855	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.42	5.42	0.78866	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.55609	0.1931	M	0.64404	1.975	0.80722	D	1	B;P;B;B;B;B	0.41848	0.203;0.763;0.152;0.152;0.203;0.203	B;P;B;B;B;B	0.46208	0.149;0.507;0.155;0.232;0.149;0.149	T	0.60372	-0.7276	10	0.87932	D	0	.	16.702	0.85351	0.0:1.0:0.0:0.0	.	161;190;60;60;121;161	P34998-4;P34998;B3TIK8;B4DMR5;P34998-3;P34998-2	.;CRFR1_HUMAN;.;.;.;.	V	60;190;161;161;121	ENSP00000340522:A60V;ENSP00000381333:A190V;ENSP00000326060:A161V;ENSP00000344068:A121V	ENSP00000326060:A161V	A	+	2	0	CRHR1	41263288	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.810000	0.86072	2.543000	0.85770	0.561000	0.74099	GCC		0.627	CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000441241.3			15	84	0	0	0	1	0	15	84					T	43907507	C	T	43907507	3	4	475	1	0	0	0	0	1	0	0	0	3871	739	26	2	595	2	CRHR1	17	43907507	Missense_Mutation	SNP	C	TCGA-J8-A4HY-01A-11D-A257-08		43907507	37287703	34	9731											
TMEM104	54868	broad.mit.edu	37	chr17	72832366	72832366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacaccctcaacttcgcgcGctgtgacgtcgtgggcctgg	13	14	1	1	rs146892063		TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr17:72832366G>A	ENST00000335464.5	+	10	1193	c.1031G>A	c.(1030-1032)cGc>cAc	p.R344H	TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582330.1_Missense_Mutation_p.R344H	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	344						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)					AACTTCGCGCGCTGTGACGTC	0.617													g|||	1	0.000199681	8e-04	0	5008	,	,		18197	0		0	False		,,,				2504	0					ENST00000335464.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19						c.(1030-1032)cGc>cAc		transmembrane protein 104			HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	294	229	251		1031	5.3	0.9	17	dbSNP_134	251	8,8592	6.4+/-24.3	0,8,4292	yes	missense	TMEM104	NM_017728.3	29	0,11,6492	AA,AG,GG		0.093,0.0681,0.0846	possibly-damaging	344/497	72832366	11,12995	2203	4300	6503	SO:0001583	missense	54868					integral to membrane		g.chr17:72832366G>A	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.1031G>A	17.37:g.72832366G>A	ENSP00000334849:p.Arg344His					TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582330.1_Missense_Mutation_p.R344H|TMEM104_ENST00000582773.1_Intron	p.R344H	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN			10	1193	+	all_lung(278;0.23)		344					Q8TEU1|Q9NT56|Q9NXH1	Missense_Mutation	SNP	ENST00000335464.5	37	c.1031G>A	CCDS32723.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	12.22	1.874032	0.33069	6.81E-4	9.3E-4	ENSG00000109066	ENST00000335464	T	0.02280	4.36	5.26	5.26	0.73747	.	0.297958	0.41396	D	0.000882	T	0.02304	0.0071	L	0.34521	1.04	0.26058	N	0.981385	P	0.45672	0.864	B	0.38985	0.287	T	0.50906	-0.8772	10	0.41790	T	0.15	-21.3061	10.4811	0.44693	0.1207:0.0:0.8793:0.0	.	344	Q8NE00	TM104_HUMAN	H	344	ENSP00000334849:R344H	ENSP00000334849:R344H	R	+	2	0	TMEM104	70343961	1.000000	0.71417	0.938000	0.37757	0.209000	0.24338	4.296000	0.59055	2.626000	0.88956	0.556000	0.70494	CGC		0.617	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444442.1	NM_017728		8	210	0	0	0	1	0	8	210					A	72832366	G	A	72832366	3	1	475	1	0	0	0	0	1	0	0	0	16015	1087	38	1	1065	1	TMEM104	17	72832366	Missense_Mutation	SNP	G	TCGA-J8-A4HY-01A-11D-A257-08	28924859	72832366	8362844	35	9732											
PPAN	56342	broad.mit.edu	37	chr19	10220890	10220890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgctggccgtggcaacatgCgggcccagcagagtgcagtg	16	12	0	1			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr19:10220890C>T	ENST00000253107.7	+	8	896	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W	P2RY11_ENST00000321826.4_5'Flank|PPAN_ENST00000556468.1_Missense_Mutation_p.R264W|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.R264W|SNORD105_ENST00000386910.1_RNA|SNORD105B_ENST00000458770.1_RNA|PPAN-P2RY11_ENST00000428358.1_Missense_Mutation_p.R264W|PPAN_ENST00000393793.1_Missense_Mutation_p.R211W	NM_020230.5	NP_064615.3	Q9NQ55	SSF1_HUMAN	peter pan homolog (Drosophila)	264	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R264W(2)		endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			TGGCAACATGCGGGCCCAGCA	0.692																																						ENST00000428358.1																			2	Substitution - Missense(2)	p.R264W(2)	prostate(2)	breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31						c.(790-792)Cgg>Tgg									20	25	23					19																	10220890		2203	4297	6500	SO:0001583	missense	0				RNA splicing	nucleolus	protein binding	g.chr19:10220890C>T	BC033202	CCDS12225.1	19p13.2	2008-02-05	2001-11-28		ENSG00000130810	ENSG00000130810			9227	protein-coding gene	gene with protein product		607793	"peter pan (Drosophila) homolog"			10873382	Standard	NM_020230		Approved	SSF1, SSF2, SSF, BXDC3		Q9NQ55	OTTHUMG00000156826	ENST00000253107.7:c.790C>T	19.37:g.10220890C>T	ENSP00000253107:p.Arg264Trp					PPAN_ENST00000393793.1_Missense_Mutation_p.R211W|PPAN_ENST00000253107.7_Missense_Mutation_p.R264W|PPAN_ENST00000556468.1_Missense_Mutation_p.R264W|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.R264W	p.R264W	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		8	962	+			264			Brix.		C9J3F9|Q9BW97|Q9H170	Missense_Mutation	SNP	ENST00000253107.7	37	c.790C>T	CCDS12225.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.902557	0.52227	.	.	ENSG00000243207;ENSG00000243207;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810	ENST00000428358;ENST00000393796;ENST00000253107;ENST00000556468;ENST00000342696;ENST00000393793;ENST00000446223	T;T;T;T;T	0.62498	1.46;0.02;1.48;0.02;1.48	4.82	3.76	0.43208	Brix domain (3);	.	.	.	.	T	0.57080	0.2029	N	0.24115	0.695	0.33269	D	0.560731	D;D;D	0.69078	0.995;0.995;0.997	P;P;P	0.53722	0.625;0.733;0.733	T	0.67019	-0.5776	9	0.66056	D	0.02	-23.0651	9.5663	0.39400	0.4246:0.5754:0.0:0.0	.	264;264;264	C9J3F9;C9JW41;Q9NQ55	.;.;SSF1_HUMAN	W	264;264;264;264;264;211;202	ENSP00000411918:R264W;ENSP00000377385:R264W;ENSP00000253107:R264W;ENSP00000450710:R264W;ENSP00000377382:R211W	ENSP00000253107:R264W	R	+	1	2	PPAN;PPAN-P2RY11	10081890	0.874000	0.30092	0.997000	0.53966	0.022000	0.10575	0.685000	0.25378	2.226000	0.72624	0.561000	0.74099	CGG		0.692	PPAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316658.1	NM_020230		3	25	0	0	0	1	0	3	25					T	10220890	C	T	10220890	3	4	475	1	0	0	0	0	1	0	0	0	12288	759	27	1	820	1	PPAN	19	10220890	Missense_Mutation	SNP	C	TCGA-J8-A4HY-01A-11D-A257-08		10220890	48908093	36	9733											
ANKLE1	126549	broad.mit.edu	37	chr19	17396247	17396247	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccccttcatccagggagactCaggacctgccagcccgagcc	10	18	2	1			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr19:17396247C>T	ENST00000394458.3	+	7	1660	c.1384C>T	c.(1384-1386)Cag>Tag	p.Q462*	ANKLE1_ENST00000433424.2_Silent_p.L430L|ANKLE1_ENST00000404085.1_Nonsense_Mutation_p.Q458*|ANKLE1_ENST00000598347.1_Nonsense_Mutation_p.Q436*|ANKLE1_ENST00000594072.1_Nonsense_Mutation_p.Q425*	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	462	GIY-YIG. {ECO:0000255|PROSITE- ProRule:PRU00977}.									large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						CAGGGAGACTCAGGACCTGCC	0.567																																						ENST00000394458.3																			0				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						c.(1384-1386)Cag>Tag		ankyrin repeat and LEM domain containing 1							104	115	112					19																	17396247		2203	4300	6503	SO:0001587	stop_gained	126549					nuclear envelope		g.chr19:17396247C>T	AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"Ankyrin repeat domain containing"	26812	protein-coding gene	gene with protein product	"LEM domain containing 6"		"ankyrin repeat domain 41"	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	ENST00000394458.3:c.1384C>T	19.37:g.17396247C>T	ENSP00000377971:p.Gln462*					ANKLE1_ENST00000598347.1_Nonsense_Mutation_p.Q436*|ANKLE1_ENST00000433424.2_Silent_p.L430L|ANKLE1_ENST00000404085.1_Nonsense_Mutation_p.Q458*|ANKLE1_ENST00000594072.1_Nonsense_Mutation_p.Q425*	p.Q462*	NM_152363.4	NP_689576.4	Q8NAG6	ANKL1_HUMAN			7	1660	+			462					A8VU82|Q8N8J8	Nonsense_Mutation	SNP	ENST00000394458.3	37	c.1384C>T	CCDS12354.2	.	.	.	.	.	.	.	.	.	.	C	31	5.072918	0.93950	.	.	ENSG00000160117	ENST00000404261;ENST00000404085;ENST00000394458;ENST00000438921	.	.	.	4.42	3.35	0.38373	.	0.255981	0.33834	N	0.004509	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-8.4474	11.0141	0.47679	0.1949:0.8051:0.0:0.0	.	.	.	.	X	462;458;425;436	.	ENSP00000377971:Q425X	Q	+	1	0	ANKLE1	17257247	0.993000	0.37304	0.051000	0.19133	0.486000	0.33341	3.169000	0.50809	1.012000	0.39366	0.542000	0.68232	CAG		0.567	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325392.2	NM_152363		33	101	0	0	0	1	0	33	101					T	17396247	C	T	17396247	4	4	475	1	0	0	0	0	0	1	0	0	632	827	29	2	1410	2	ANKLE1	19	17396247	Nonsense_Mutation	SNP	C	TCGA-J8-A4HY-01A-11D-A257-08	7175357	17396247	41732736	37	9734											
HPN	3249	broad.mit.edu	37	chr19	35551536	35551536	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctttccctggtaggcggaAccgggtcctgtcccgatggc	13	15	0	0			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr19:35551536A>G	ENST00000262626.2	+	9	1451	c.626A>G	c.(625-627)aAc>aGc	p.N209S	HPN_ENST00000597419.1_Missense_Mutation_p.N51S|HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000392226.1_Missense_Mutation_p.N209S	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	209	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	GGTAGGCGGAACCGGGTCCTG	0.692																																						ENST00000262626.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19						c.(625-627)aAc>aGc		hepsin	Coagulation factor VIIa(DB00036)						61	55	57					19																	35551536		2203	4300	6503	SO:0001583	missense	3249				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr19:35551536A>G		CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707		"Serine peptidases / Transmembrane"	5155	protein-coding gene	gene with protein product	"transmembrane protease, serine 1"	142440				2835076	Standard	NM_182983		Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	ENST00000262626.2:c.626A>G	19.37:g.35551536A>G	ENSP00000262626:p.Asn209Ser					HPN_ENST00000597419.1_Missense_Mutation_p.N51S|HPN_ENST00000392226.1_Missense_Mutation_p.N209S|HPN-AS1_ENST00000392227.2_RNA	p.N209S	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		9	1451	+	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		209			Peptidase S1.		B2RDS4	Missense_Mutation	SNP	ENST00000262626.2	37	c.626A>G	CCDS32993.1	.	.	.	.	.	.	.	.	.	.	A	9.590	1.125860	0.20959	.	.	ENSG00000105707	ENST00000262626;ENST00000392226;ENST00000541345	D;D	0.88431	-2.38;-2.38	4.66	3.63	0.41609	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.168717	0.51477	D	0.000081	T	0.69895	0.3162	N	0.02854	-0.475	0.80722	D	1	B;P;B	0.44281	0.017;0.831;0.103	B;B;B	0.37198	0.024;0.243;0.036	T	0.67268	-0.5713	10	0.22706	T	0.39	.	8.8131	0.34978	0.8316:0.0:0.0:0.1684	.	181;209;209	B7Z1L4;B2ZDQ2;P05981	.;.;HEPS_HUMAN	S	209;209;181	ENSP00000262626:N209S;ENSP00000376060:N209S	ENSP00000262626:N209S	N	+	2	0	HPN	40243376	1.000000	0.71417	0.989000	0.46669	0.927000	0.56198	5.986000	0.70563	0.782000	0.33613	0.454000	0.30748	AAC		0.692	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461573.1	NM_002151		14	38	0	0	0	1	0	14	38					G	35551536	A	G	35551536	3	3	475	1	0	0	0	0	1	0	0	0	7336	43	2	3	656	3	HPN	19	35551536	Missense_Mutation	SNP	A	TCGA-J8-A4HY-01A-11D-A257-08	18155289	35551536	23577447	38	9735											
MOCS3	8813	broad.mit.edu	37	chr20	49576665	49576665	+	5'Flank	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gaagatcctccagtccttatCagcagctcaagagttagacc	8	12	2	3			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr20:49576665C>G	ENST00000371588.5	-	0	0				MOCS3_ENST00000244051.1_Nonsense_Mutation_p.S429*|DPM1_ENST00000371582.4_5'Flank|DPM1_ENST00000466152.1_5'Flank|DPM1_ENST00000371583.5_5'Flank	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						CAGTCCTTATCAGCAGCTCAA	0.507																																						ENST00000244051.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						c.(1285-1287)tCa>tGa		molybdenum cofactor synthesis 3							80	84	83					20																	49576665		2203	4300	6503	SO:0001631	upstream_gene_variant	27304				enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity	g.chr20:49576665C>G	AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"Glycosyltransferase family 2 domain containing"	3005	protein-coding gene	gene with protein product	"DPM synthase complex, catalytic subunit"	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742		20.37:g.49576665C>G	Exception_encountered						p.S429*	NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN			1	1303	+			429		S -> A (in dbSNP:rs7269297).	Rhodanese.		O15157|Q6IB78|Q96HK0	Nonsense_Mutation	SNP	ENST00000371588.5	37	c.1286C>G	CCDS13434.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541768	0.65198	.	.	ENSG00000124217	ENST00000244051	.	.	.	5.14	4.17	0.49024	.	0.810483	0.11612	N	0.546682	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	1.2116	5.2228	0.15377	0.0:0.6615:0.2096:0.129	.	.	.	.	X	429	.	.	S	+	2	0	MOCS3	49010072	0.011000	0.17503	0.005000	0.12908	0.519000	0.34347	1.765000	0.38481	1.342000	0.45619	0.591000	0.81541	TCA		0.507	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859		29	87	0	0	0	1	0	29	87					G	49576665	C	G	49576665	1	3	475	0	1	0	0	0	0	0	0	0	9692	838	29	4		4	MOCS3	20	49576665	5'Flank	SNP	C	TCGA-J8-A4HY-01A-11D-A257-08		49576665	13448855	39	9736											
PTTG1IP	754	broad.mit.edu	37	chr21	46276212	46276212	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgcagcagcagcagcagcaGatggcaatgcccaggaggag	15	11	0	1			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr21:46276212G>A	ENST00000330938.3	-	4	565	c.345C>T	c.(343-345)atC>atT	p.I115I	PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000397886.3_Silent_p.I94I|PTTG1IP_ENST00000494690.1_5'UTR	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN	pituitary tumor-transforming 1 interacting protein	115					multicellular organismal development (GO:0007275)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)			ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		AGCAGCAGCAGATGGCAATGC	0.622																																						ENST00000330938.3																			0				ovary(1)|prostate(1)	2						c.(343-345)atC>atT		pituitary tumor-transforming 1 interacting protein							105	86	93					21																	46276212		2203	4300	6503	SO:0001819	synonymous_variant	754				protein import into nucleus	cytoplasm|integral to membrane|nucleus		g.chr21:46276212G>A	AF149785	CCDS13715.1, CCDS68221.1	21q22.3	2008-07-04			ENSG00000183255	ENSG00000183255			13524	protein-coding gene	gene with protein product		603784		C21orf3, C21orf1		9570958, 10830953	Standard	NM_004339		Approved	PBF	uc002zgb.2	P53801	OTTHUMG00000090254	ENST00000330938.3:c.345C>T	21.37:g.46276212G>A						PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000397886.3_Silent_p.I94I	p.I115I	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN		Colorectal(79;0.0659)	4	565	-			115					B2RDP7|D3DSL9|Q9NS09	Silent	SNP	ENST00000330938.3	37	c.345C>T	CCDS13715.1																																																																																				0.622	PTTG1IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206553.1			9	49	0	0	0	1	0	9	49					A	46276212	G	A	46276212	2	1	475	1	0	0	0	0	0	0	0	1	12820	932	33	2		2	PTTG1IP	21	46276212	Silent	SNP	G	TCGA-J8-A4HY-01A-11D-A257-08		46276212	1853683	40	9737											
FAM19A5	25817	broad.mit.edu	37	chr22	49042492	49042492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacgatcgcccggcagaccGcccgctgtgcgtgtagaaag	15	13	0	2			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr22:49042492G>A	ENST00000402357.1	+	2	329	c.196G>A	c.(196-198)Gcc>Acc	p.A66T	FAM19A5_ENST00000358295.5_Missense_Mutation_p.A59T|FAM19A5_ENST00000473898.1_Intron	NM_001082967.1	NP_001076436.1	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	66						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		CCGGCAGACCGCCCGCTGTGC	0.697																																						ENST00000358295.5																			0				large_intestine(1)|lung(6)	7						c.(175-177)Gcc>Acc		family with sequence similarity 19 (chemokine (C-C motif)-like), member A5							21	27	25					22																	49042492		2050	4185	6235	SO:0001583	missense	25817					extracellular region|integral to membrane		g.chr22:49042492G>A	AY325118	CCDS46728.1, CCDS46729.1	22q13.32	2005-09-20			ENSG00000219438	ENSG00000219438			21592	protein-coding gene	gene with protein product						15028294	Standard	NM_015381		Approved	TAFA-5	uc003bim.4	Q7Z5A7	OTTHUMG00000150308	ENST00000402357.1:c.196G>A	22.37:g.49042492G>A	ENSP00000383933:p.Ala66Thr					FAM19A5_ENST00000473898.1_Intron|FAM19A5_ENST00000402357.1_Missense_Mutation_p.A66T	p.A59T	NM_015381.5	NP_056196.2	Q7Z5A7	F19A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)	2	350	+		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)	66					A6NII9|B0QZ13|B0QZ14|B0QZ15|O95902|Q5H9C4|Q6UWC9|Q8IXR8	Missense_Mutation	SNP	ENST00000402357.1	37	c.175G>A	CCDS46728.1	.	.	.	.	.	.	.	.	.	.	G	33	5.204945	0.95033	.	.	ENSG00000219438	ENST00000402357;ENST00000336769;ENST00000358295	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	T	0.77356	0.4118	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.946;0.995	T	0.79771	-0.1663	8	0.87932	D	0	.	17.3357	0.87280	0.0:0.0:1.0:0.0	.	59;66	Q7Z5A7-2;Q7Z5A7	.;F19A5_HUMAN	T	66;66;59	.	ENSP00000336812:A66T	A	+	1	0	FAM19A5	47428928	1.000000	0.71417	0.986000	0.45419	0.766000	0.43426	8.827000	0.92041	2.417000	0.82017	0.655000	0.94253	GCC		0.697	FAM19A5-003	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317504.1	NM_015381		6	11	0	0	0	1	0	6	11					A	49042492	G	A	49042492	3	1	475	1	0	0	0	0	1	0	0	0	5535	1087	38	1	297	1	FAM19A5	22	49042492	Missense_Mutation	SNP	G	TCGA-J8-A4HY-01A-11D-A257-08		49042492	2262074	41	9738											
BCL9	607	broad.mit.edu	37	chr1	147091046	147091046	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctggagcaccgggagcgctCcttacaaactctcagagata	11	12	1	1			TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr1:147091046C>T	ENST00000234739.3	+	8	1825	c.1085C>T	c.(1084-1086)tCc>tTc	p.S362F		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	362	Interacts with CTNNB1.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CGGGAGCGCTCCTTACAAACT	0.567			T	"IGH@, IGL@"	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"IGH@, IGL@"		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(1084-1086)tCc>tTc		B-cell CLL/lymphoma 9							64	77	73					1																	147091046		2203	4300	6503	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147091046C>T	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1085C>T	1.37:g.147091046C>T	ENSP00000234739:p.Ser362Phe						p.S362F	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			8	1825	+	all_hematologic(923;0.115)		362			CTNNB1-binding.|Pro-rich.		Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.1085C>T	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.091863	0.76756	.	.	ENSG00000116128	ENST00000234739	T	0.62498	0.02	5.46	5.46	0.80206	B-cell lymphoma 9, beta-catenin binding domain (1);	0.000000	0.85682	D	0.000000	T	0.66896	0.2836	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	T	0.69986	-0.4996	10	0.87932	D	0	-16.5804	19.5721	0.95425	0.0:1.0:0.0:0.0	.	362;362	Q1JQ81;O00512	.;BCL9_HUMAN	F	362	ENSP00000234739:S362F	ENSP00000234739:S362F	S	+	2	0	BCL9	145557670	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.455000	0.80726	2.857000	0.98124	0.650000	0.86243	TCC		0.567	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		7	163	0	0	0	1	0	7	163					T	147091046	C	T	147091046	3	4	476	1	0	0	0	0	1	0	0	0	1381	855	30	2	1103	2	BCL9	1	147091046	Missense_Mutation	SNP	C	TCGA-KS-A41F-01A-11D-A23M-08		147091046	102159575	1	9739											
OR2M2	391194	broad.mit.edu	37	chr1	248344028	248344028	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttcctctcacctcatggtGgtgggaatgtactatggagc	12	9	2	0	rs529436953		TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr1:248344028G>A	ENST00000359682.2	+	1	741	c.741G>A	c.(739-741)gtG>gtA	p.V247V		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACCTCATGGTGGTGGGAATGT	0.493																																						ENST00000359682.2																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70						c.(739-741)gtG>gtA		olfactory receptor, family 2, subfamily M, member 2							223	199	207					1																	248344028		2203	4300	6503	SO:0001819	synonymous_variant	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248344028G>A	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"GPCR / Class A : Olfactory receptors"	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.741G>A	1.37:g.248344028G>A							p.V247V	NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	741	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		247					A3KFT4	Silent	SNP	ENST00000359682.2	37	c.741G>A	CCDS31106.1																																																																																				0.493	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		5	240	0	0	0	1	0	5	240					A	248344028	G	A	248344028	2	1	476	1	0	0	0	0	0	0	0	1	11010	1335	47	2		2	OR2M2	1	248344028	Silent	SNP	G	TCGA-KS-A41F-01A-11D-A23M-08	101252982	248344028	906593	2	9740											
REG3A	5068	broad.mit.edu	37	chr2	79385821	79385821	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgacaaaaacaaggcatagcAgtgggagccataggccttgg	13	8	0	1			TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr2:79385821A>T	ENST00000409839.3	-	3	187	c.151T>A	c.(151-153)Tgc>Agc	p.C51S	AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000393878.1_Missense_Mutation_p.C51S|REG3A_ENST00000305165.2_Missense_Mutation_p.C51S	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	51	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|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 space (GO:0005615)	carbohydrate binding (GO:0030246)			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						AAGGCATAGCAGTGGGAGCCA	0.577																																						ENST00000393878.1																			0				breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						c.(151-153)Tgc>Agc		regenerating islet-derived 3 alpha							109	98	102					2																	79385821		2203	4300	6503	SO:0001583	missense	5068				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	g.chr2:79385821A>T	S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"pancreatitis-associated protein"	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.151T>A	2.37:g.79385821A>T	ENSP00000386630:p.Cys51Ser					REG3A_ENST00000409839.3_Missense_Mutation_p.C51S|REG3A_ENST00000305165.2_Missense_Mutation_p.C51S|AC011754.1_ENST00000415201.1_RNA	p.C51S	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN			2	405	-			51			C-type lectin.			Missense_Mutation	SNP	ENST00000409839.3	37	c.151T>A	CCDS1965.1	.	.	.	.	.	.	.	.	.	.	A	15.55	2.866600	0.51588	.	.	ENSG00000172016	ENST00000409839;ENST00000393878;ENST00000305165	T;T;T	0.32272	1.46;1.46;1.46	3.87	3.87	0.44632	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.000000	0.64402	D	0.000012	T	0.65322	0.2680	H	0.96996	3.92	0.41800	D	0.989916	D	0.89917	1.0	D	0.83275	0.996	T	0.74420	-0.3671	10	0.72032	D	0.01	.	9.3476	0.38118	1.0:0.0:0.0:0.0	.	51	Q06141	REG3A_HUMAN	S	51	ENSP00000386630:C51S;ENSP00000377456:C51S;ENSP00000304311:C51S	ENSP00000304311:C51S	C	-	1	0	REG3A	79239329	1.000000	0.71417	0.948000	0.38648	0.035000	0.12851	3.709000	0.54853	1.980000	0.57719	0.491000	0.48974	TGC		0.577	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252290.2	NM_002580		28	39	0	0	0	1	0	28	39					T	79385821	A	T	79385821	3	4	476	1	0	0	0	0	1	0	0	0	13212	188	7	5	392	5	REG3A	2	79385821	Missense_Mutation	SNP	A	TCGA-KS-A41F-01A-11D-A23M-08		79385821	163813552	3	9741											
UPK1B	7348	broad.mit.edu	37	chr3	118906737	118906737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatggggctgcctggatcgGcatatttgtgggcatctgcc	14	10	1	0			TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr3:118906737G>A	ENST00000264234.3	+	3	334	c.185G>A	c.(184-186)gGc>gAc	p.G62D	UPK1B_ENST00000460625.1_Missense_Mutation_p.G62D|UPK1B_ENST00000497685.1_5'UTR	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN	uroplakin 1B	62					epithelial cell differentiation (GO:0030855)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)			breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		GCCTGGATCGGCATATTTGTG	0.502																																						ENST00000264234.3																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14						c.(184-186)gGc>gAc		uroplakin 1B							175	148	157					3																	118906737		2203	4300	6503	SO:0001583	missense	7348				epithelial cell differentiation	integral to membrane	structural molecule activity	g.chr3:118906737G>A	AF082888	CCDS2985.1	3q13.32	2013-02-14			ENSG00000114638	ENSG00000114638		"Tetraspanins"	12578	protein-coding gene	gene with protein product		602380		UPK1		9935153, 9846985	Standard	NM_006952		Approved	TSPAN20	uc003ecc.3	O75841	OTTHUMG00000159354	ENST00000264234.3:c.185G>A	3.37:g.118906737G>A	ENSP00000264234:p.Gly62Asp					UPK1B_ENST00000497685.1_5'UTR|UPK1B_ENST00000460625.1_Missense_Mutation_p.G62D	p.G62D	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	3	334	+			62					O60753|Q9UIM2|Q9UNX6	Missense_Mutation	SNP	ENST00000264234.3	37	c.185G>A	CCDS2985.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498082	0.85069	.	.	ENSG00000114638	ENST00000264234;ENST00000479520;ENST00000494855;ENST00000460625	T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29	5.52	5.52	0.82312	.	0.237884	0.34628	N	0.003801	D	0.85133	0.5627	L	0.44542	1.39	0.46203	D	0.998926	D;D	0.64830	0.994;0.983	D;P	0.63192	0.912;0.875	D	0.83617	0.0137	9	.	.	.	-27.7565	18.0522	0.89353	0.0:0.0:1.0:0.0	.	62;62	C9J9M7;O75841	.;UPK1B_HUMAN	D	62	ENSP00000264234:G62D;ENSP00000418399:G62D;ENSP00000418597:G62D;ENSP00000418116:G62D	.	G	+	2	0	UPK1B	120389427	1.000000	0.71417	0.995000	0.50966	0.881000	0.50899	5.214000	0.65236	2.595000	0.87683	0.655000	0.94253	GGC		0.502	UPK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354883.2			4	128	0	0	0	1	0	4	128					A	118906737	G	A	118906737	3	1	476	1	0	0	0	0	1	0	0	0	17005	1203	42	2	191	2	UPK1B	3	118906737	Missense_Mutation	SNP	G	TCGA-KS-A41F-01A-11D-A23M-08		118906737	79115693	4	9742											
SYNE1	23345	broad.mit.edu	37	chr6	152651592	152651592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggctgccaaggctgacctGtgctgcgaaaaccttctttt	10	12	1	1			TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr6:152651592G>A	ENST00000367255.5	-	78	14829	c.14228C>T	c.(14227-14229)aCa>aTa	p.T4743I	SYNE1_ENST00000423061.1_Missense_Mutation_p.T4672I|SYNE1_ENST00000341594.5_Missense_Mutation_p.T4490I|SYNE1_ENST00000265368.4_Missense_Mutation_p.T4743I|SYNE1_ENST00000448038.1_Missense_Mutation_p.T4672I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4743					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGGCTGACCTGTGCTGCGAAA	0.517										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(14227-14229)aCa>aTa		spectrin repeat containing, nuclear envelope 1							89	94	92					6																	152651592		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152651592G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.14228C>T	6.37:g.152651592G>A	ENSP00000356224:p.Thr4743Ile	HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Missense_Mutation_p.T4672I|SYNE1_ENST00000265368.4_Missense_Mutation_p.T4743I|SYNE1_ENST00000341594.5_Missense_Mutation_p.T4490I|SYNE1_ENST00000448038.1_Missense_Mutation_p.T4672I	p.T4743I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	14829	-		Ovarian(120;0.0955)	4743					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.14228C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	11.97	1.796677	0.31777	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000006	T	0.47002	0.1422	L	0.52573	1.65	0.80722	D	1	D;D;D;D	0.56521	0.976;0.96;0.96;0.976	P;B;B;P	0.53861	0.736;0.226;0.226;0.54	T	0.39563	-0.9608	10	0.48119	T	0.1	.	15.5977	0.76599	0.0:0.137:0.863:0.0	.	4743;4743;4743;4672	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	I	4743;4672;4743;4672;4490	ENSP00000356224:T4743I;ENSP00000396024:T4672I;ENSP00000265368:T4743I;ENSP00000390975:T4672I;ENSP00000341887:T4490I	ENSP00000265368:T4743I	T	-	2	0	SYNE1	152693285	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	6.573000	0.74009	2.767000	0.95098	0.591000	0.81541	ACA		0.517	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		6	73	0	0	0	1	0	6	73					A	152651592	G	A	152651592	3	1	476	1	0	0	0	0	1	0	0	0	15442	1377	48	2	12514	2	SYNE1	6	152651592	Missense_Mutation	SNP	G	TCGA-KS-A41F-01A-11D-A23M-08		152651592	18463475	5	9743											
HGF	3082	broad.mit.edu	37	chr7	81381500	81381500	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggattgcttgtgaaacaccaGggtcccccttcttcccctcg	9	15	1	1			TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr7:81381500G>A	ENST00000222390.5	-	5	787	c.561C>T	c.(559-561)ccC>ccT	p.P187P	HGF_ENST00000453411.1_Silent_p.P182P|HGF_ENST00000444829.2_Silent_p.P187P|HGF_ENST00000457544.2_Silent_p.P182P|HGF_ENST00000423064.2_Silent_p.P187P	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	187	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|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 via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TGAAACACCAGGGTCCCCCTT	0.443																																						ENST00000222390.5																			0				NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						c.(559-561)ccC>ccT		hepatocyte growth factor (hepapoietin A; scatter factor)							148	127	134					7																	81381500		2203	4300	6503	SO:0001819	synonymous_variant	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81381500G>A		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"hepatopoietin A", "fibroblast-derived tumor cytotoxic factor", "scatter factor", "lung fibroblast-derived mitogen"	142409	"deafness, autosomal recessive 39"	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.561C>T	7.37:g.81381500G>A						HGF_ENST00000423064.2_Silent_p.P187P|HGF_ENST00000444829.2_Silent_p.P187P|HGF_ENST00000457544.2_Silent_p.P182P|HGF_ENST00000453411.1_Silent_p.P182P	p.P187P	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN			5	787	-			187			Kringle 1.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Silent	SNP	ENST00000222390.5	37	c.561C>T	CCDS5597.1																																																																																				0.443	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		4	64	0	0	0	1	0	4	64					A	81381500	G	A	81381500	2	1	476	1	0	0	0	0	0	0	0	1	7085	987	35	2		2	HGF	7	81381500	Silent	SNP	G	TCGA-KS-A41F-01A-11D-A23M-08		81381500	77757163	6	9744											
AP4M1	9179	broad.mit.edu	37	chr7	99703909	99703909	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccccctgcctcgaggggtGgtcaggtgagtgtgtgcacc	15	13	1	1			TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr7:99703909G>A	ENST00000359593.4	+	13	1178	c.1020G>A	c.(1018-1020)gtG>gtA	p.V340V	AP4M1_ENST00000429084.1_Silent_p.V347V|AP4M1_ENST00000422582.1_Silent_p.V212V|AP4M1_ENST00000421755.1_Silent_p.V340V	NM_004722.3	NP_004713.2	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	340	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)					CTCGAGGGGTGGTCAGGTGAG	0.617																																					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.(1039-1041)gtG>gtA		adaptor-related protein complex 4, mu 1 subunit							66	53	57					7																	99703909		2203	4300	6503	SO:0001819	synonymous_variant	9179				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity	g.chr7:99703909G>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.1020G>A	7.37:g.99703909G>A						AP4M1_ENST00000421755.1_Silent_p.V340V|AP4M1_ENST00000422582.1_Silent_p.V212V|AP4M1_ENST00000359593.4_Silent_p.V340V	p.V347V			O00189	AP4M1_HUMAN			13	1199	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		340			MHD.		D6W5U1|Q8WV65|Q9UHK9	Silent	SNP	ENST00000359593.4	37	c.1041G>A	CCDS5685.1	.	.	.	.	.	.	.	.	.	.	G	9.163	1.019113	0.19355	.	.	ENSG00000221838	ENST00000445295	.	.	.	4.68	1.66	0.24008	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-17.5612	3.522	0.07745	0.0936:0.3229:0.4286:0.1548	.	.	.	.	X	66	.	.	W	+	2	0	AP4M1	99541845	0.952000	0.32445	1.000000	0.80357	0.849000	0.48306	0.011000	0.13264	0.560000	0.29169	0.561000	0.74099	TGG		0.617	AP4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336772.4	NM_004722		12	21	0	0	0	1	0	12	21					A	99703909	G	A	99703909	2	1	476	1	0	0	0	0	0	0	0	1	753	1335	47	2		2	AP4M1	7	99703909	Silent	SNP	G	TCGA-KS-A41F-01A-11D-A23M-08	18322409	99703909	59434754	7	9745											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		29	45	0	0	0	1	0	29	45					T	140453136	A	T	140453136	3	4	476	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-KS-A41F-01A-11D-A23M-08	40749227	140453136	18685527	8	9746											
FGL1	2267	broad.mit.edu	37	chr8	17743027	17743027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccctgcccattgtcagagCggtggtaacaaggatgaaac	11	10	1	2			TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr8:17743027C>T	ENST00000398056.2	-	4	852	c.37G>A	c.(37-39)Gct>Act	p.A13T	FGL1_ENST00000381840.2_Missense_Mutation_p.A13T|FGL1_ENST00000522444.1_Missense_Mutation_p.A13T|FGL1_ENST00000518650.1_Missense_Mutation_p.A13T|FGL1_ENST00000427924.1_Missense_Mutation_p.A13T|FGL1_ENST00000381841.2_Missense_Mutation_p.A13T|RP11-156K13.2_ENST00000519368.1_RNA|FGL1_ENST00000398054.1_Missense_Mutation_p.A13T			Q08830	FGL1_HUMAN	fibrinogen-like 1	13					adipose tissue development (GO:0060612)|cholesterol metabolic process (GO:0008203)|regulation of glucose metabolic process (GO:0010906)|response to stilbenoid (GO:0035634)	extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		ATTGTCAGAGCGGTGGTAACA	0.343																																						ENST00000398056.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13						c.(37-39)Gct>Act		fibrinogen-like 1							80	81	80					8																	17743027		2203	4300	6503	SO:0001583	missense	2267				signal transduction	fibrinogen complex	receptor binding	g.chr8:17743027C>T	D14446	CCDS6004.1	8p22	2013-02-06			ENSG00000104760	ENSG00000104760		"Fibrinogen C domain containing"	3695	protein-coding gene	gene with protein product		605776				8390249	Standard	NM_004467		Approved	HFREP-1	uc003wyb.3	Q08830	OTTHUMG00000096989	ENST00000398056.2:c.37G>A	8.37:g.17743027C>T	ENSP00000381133:p.Ala13Thr					FGL1_ENST00000522444.1_Missense_Mutation_p.A13T|FGL1_ENST00000518650.1_Missense_Mutation_p.A13T|FGL1_ENST00000427924.1_Missense_Mutation_p.A13T|FGL1_ENST00000381840.2_Missense_Mutation_p.A13T|FGL1_ENST00000381841.2_Missense_Mutation_p.A13T|FGL1_ENST00000398054.1_Missense_Mutation_p.A13T	p.A13T			Q08830	FGL1_HUMAN		Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)	4	852	-			13					A6NKU4|Q4PJH9|Q53YF1|Q8NG32|Q96KW6|Q96QM6	Missense_Mutation	SNP	ENST00000398056.2	37	c.37G>A	CCDS6004.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433886	0.25813	.	.	ENSG00000104760	ENST00000221204;ENST00000398056;ENST00000522444;ENST00000381841;ENST00000427924;ENST00000398054;ENST00000381840;ENST00000518650	T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56	3.54	-1.35	0.09114	.	3.401120	0.00837	N	0.001708	T	0.33498	0.0865	N	0.12746	0.255	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.01281	0.0;0.0	T	0.13953	-1.0490	10	0.19147	T	0.46	.	7.8855	0.29648	0.0:0.6008:0.0:0.3992	.	13;13	Q8NG32;Q08830	.;FGL1_HUMAN	T	13	ENSP00000381133:A13T;ENSP00000429757:A13T;ENSP00000371263:A13T;ENSP00000401952:A13T;ENSP00000381131:A13T;ENSP00000371262:A13T;ENSP00000428430:A13T	ENSP00000221204:A13T	A	-	1	0	FGL1	17787307	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.766000	0.01797	-0.322000	0.08615	0.555000	0.69702	GCT		0.343	FGL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375254.1	NM_004467		4	62	0	0	0	1	0	4	62					T	17743027	C	T	17743027	3	4	476	1	0	0	0	0	1	0	0	0	5872	768	27	1	929	1	FGL1	8	17743027	Missense_Mutation	SNP	C	TCGA-KS-A41F-01A-11D-A23M-08		17743027	128620995	9	9747											
TSNARE1	203062	broad.mit.edu	37	chr8	143425445	143425445	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttgccggaaccagggctGgggccatgggccgccttccg	17	14	0	0			TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr8:143425445G>A	ENST00000307180.3	-	4	744	c.627C>T	c.(625-627)ccC>ccT	p.P209P	TSNARE1_ENST00000524325.1_Silent_p.P209P|TSNARE1_ENST00000520166.1_Silent_p.P209P|TSNARE1_ENST00000519651.1_Intron	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	209					intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					AACCAGGGCTGGGGCCATGGG	0.697																																						ENST00000524325.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20						c.(625-627)ccC>ccT		t-SNARE domain containing 1							21	24	23					8																	143425445		2195	4276	6471	SO:0001819	synonymous_variant	203062				vesicle-mediated transport	integral to membrane		g.chr8:143425445G>A			8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.627C>T	8.37:g.143425445G>A						TSNARE1_ENST00000307180.3_Silent_p.P209P|TSNARE1_ENST00000519651.1_Intron|TSNARE1_ENST00000520166.1_Silent_p.P209P	p.P209P			Q96NA8	TSNA1_HUMAN			4	802	-	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		209					B7ZLB0|Q14D03	Silent	SNP	ENST00000307180.3	37	c.627C>T	CCDS6384.1																																																																																				0.697	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003		4	46	0	0	0	1	0	4	46					A	143425445	G	A	143425445	2	1	476	1	0	0	0	0	0	0	0	1	16627	1335	47	2		2	TSNARE1	8	143425445	Silent	SNP	G	TCGA-KS-A41F-01A-11D-A23M-08	125682418	143425445	2938577	10	9748											
ZNF623	9831	broad.mit.edu	37	chr8	144732640	144732640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctcattgagcatcagcgcGttcattcaggagaaaagccc	10	11	4	2	rs377222268		TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr8:144732640G>A	ENST00000501748.2	+	1	687	c.598G>A	c.(598-600)Gtt>Att	p.V200I	ZNF623_ENST00000458270.2_Missense_Mutation_p.V160I|ZNF623_ENST00000526926.1_Missense_Mutation_p.V160I	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	200					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCATCAGCGCGTTCATTCAGG	0.473																																						ENST00000501748.2																			0				endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27						c.(598-600)Gtt>Att		zinc finger protein 623		G	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	107	94	99		478,598	-0.9	0.0	8		99	0,8600		0,0,4300	no	missense,missense	ZNF623	NM_001082480.1,NM_014789.3	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	160/497,200/537	144732640	1,13005	2203	4300	6503	SO:0001583	missense	9831				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144732640G>A	AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"Zinc fingers, C2H2-type"	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.598G>A	8.37:g.144732640G>A	ENSP00000445979:p.Val200Ile					ZNF623_ENST00000458270.2_Missense_Mutation_p.V160I|ZNF623_ENST00000526926.1_Missense_Mutation_p.V160I	p.V200I	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		1	687	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		200					A4FU80|B4DGP3|E7ENV5	Missense_Mutation	SNP	ENST00000501748.2	37	c.598G>A	CCDS34957.1	.	.	.	.	.	.	.	.	.	.	G	0.608	-0.826108	0.02734	2.27E-4	0.0	ENSG00000183309	ENST00000526926;ENST00000328466;ENST00000458270;ENST00000532796;ENST00000501748	T;T;T	0.07688	3.17;3.17;3.17	4.48	-0.876	0.10624	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02929	0.0087	N	0.11131	0.1	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.45338	-0.9268	9	0.02654	T	1	0.0218	4.0579	0.09824	0.5434:0.0:0.2796:0.1771	.	200	O75123	ZN623_HUMAN	I	160;160;160;200;200	ENSP00000435232:V160I;ENSP00000411139:V160I;ENSP00000445979:V200I	ENSP00000330358:V160I	V	+	1	0	ZNF623	144803783	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.320000	0.19540	-0.061000	0.13110	0.655000	0.94253	GTT		0.473	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	NM_014789		4	108	0	0	0	1	0	4	108					A	144732640	G	A	144732640	3	1	476	1	0	0	0	0	1	0	0	0	18044	1145	40	1	600	1	ZNF623	8	144732640	Missense_Mutation	SNP	G	TCGA-KS-A41F-01A-11D-A23M-08	1307195	144732640	1631382	11	9749											
LRRC14	9684	broad.mit.edu	37	chr8	145745726	145745726	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtactgctgccgtagctcGcacatgcattgcccagcagc	10	15	0	0			TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr8:145745726G>T	ENST00000292524.1	+	3	580	c.434G>T	c.(433-435)cGc>cTc	p.R145L	RECQL4_ENST00000428558.2_5'Flank|RECQL4_ENST00000532237.1_5'Flank|LRRC14_ENST00000529022.1_Missense_Mutation_p.R145L	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	145										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)			GCCGTAGCTCGCACATGCATT	0.657																																						ENST00000292524.1																			0				endometrium(1)|lung(3)|prostate(1)	5						c.(433-435)cGc>cTc		leucine rich repeat containing 14							72	77	75					8																	145745726		2203	4300	6503	SO:0001583	missense	9684							g.chr8:145745726G>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.434G>T	8.37:g.145745726G>T	ENSP00000292524:p.Arg145Leu					LRRC14_ENST00000529022.1_Missense_Mutation_p.R145L	p.R145L	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	580	+	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)		145					A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	37	c.434G>T	CCDS6432.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.942270	0.34283	.	.	ENSG00000160959	ENST00000527730;ENST00000529022;ENST00000292524;ENST00000525766	T;T;T;T	0.54071	2.11;4.91;4.91;0.59	4.51	3.54	0.40534	.	0.684959	0.13228	N	0.403870	T	0.50377	0.1612	L	0.42245	1.32	0.32260	N	0.570338	D	0.53312	0.959	P	0.51385	0.668	T	0.59423	-0.7457	10	0.59425	D	0.04	.	5.2993	0.15770	0.2294:0.0:0.7706:0.0	.	145	Q15048	LRC14_HUMAN	L	145	ENSP00000436452:R145L;ENSP00000434768:R145L;ENSP00000292524:R145L;ENSP00000434738:R145L	ENSP00000292524:R145L	R	+	2	0	LRRC14	145716534	0.309000	0.24518	0.975000	0.42487	0.101000	0.19017	2.543000	0.45752	2.337000	0.79520	0.462000	0.41574	CGC		0.657	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		15	93	1	0	2.48551e-13	1	2.65692e-13	15	93					T	145745726	G	T	145745726	3	4	476	1	0	0	0	0	1	0	0	0	8968	1087	38	4	440	4	LRRC14	8	145745726	Missense_Mutation	SNP	G	TCGA-KS-A41F-01A-11D-A23M-08	1013086	145745726	618296	12	9750											
NRP1	8829	broad.mit.edu	37	chr10	33481307	33481307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagaaggtcttgtgagagCcccagccaaattcacagtta	11	10	2	2			TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr10:33481307C>T	ENST00000265371.4	-	14	2489	c.1964G>A	c.(1963-1965)gGc>gAc	p.G655D	NRP1_ENST00000374867.2_Missense_Mutation_p.G655D|NRP1_ENST00000395995.1_Missense_Mutation_p.G655D|NRP1_ENST00000374875.1_Missense_Mutation_p.G467D			O14786	NRP1_HUMAN	neuropilin 1	655	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CTTGTGAGAGCCCCAGCCAAA	0.453																																					Melanoma(104;886 1489 44640 45944 51153)	ENST00000265371.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48						c.(1963-1965)gGc>gAc		neuropilin 1	Palifermin(DB00039)|Pegaptanib(DB04895)						314	293	300					10																	33481307		2203	4300	6503	SO:0001583	missense	8829				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	g.chr10:33481307C>T	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"CD molecules"	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.1964G>A	10.37:g.33481307C>T	ENSP00000265371:p.Gly655Asp					NRP1_ENST00000374867.2_Missense_Mutation_p.G655D|NRP1_ENST00000395995.1_Missense_Mutation_p.G655D	p.G655D			O14786	NRP1_HUMAN			14	2489	-			655			MAM.		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	ENST00000265371.4	37	c.1964G>A	CCDS7177.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058374	0.55325	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995	T;T;T;T	0.01998	4.51;4.51;4.51;4.51	5.83	5.83	0.93111	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.098553	0.64402	D	0.000001	T	0.05731	0.0150	L	0.27053	0.805	0.80722	D	1	P;D;P;P;P	0.58268	0.863;0.982;0.863;0.863;0.745	B;P;B;P;B	0.55055	0.438;0.767;0.438;0.529;0.118	T	0.48328	-0.9045	10	0.51188	T	0.08	-23.8509	20.1338	0.98010	0.0:1.0:0.0:0.0	.	648;655;655;467;655	A8K9V7;Q68DN3;O14786;Q5JWQ6;E9PEP6	.;.;NRP1_HUMAN;.;.	D	655;467;655;655	ENSP00000265371:G655D;ENSP00000364009:G467D;ENSP00000364001:G655D;ENSP00000379317:G655D	ENSP00000265371:G655D	G	-	2	0	NRP1	33521313	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.327000	0.59247	2.770000	0.95276	0.655000	0.94253	GGC		0.453	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			9	339	0	0	0	1	0	9	339					T	33481307	C	T	33481307	3	4	476	1	0	0	0	0	1	0	0	0	10660	739	26	2	827	2	NRP1	10	33481307	Missense_Mutation	SNP	C	TCGA-KS-A41F-01A-11D-A23M-08		33481307	102053440	13	9751											
GPRIN2	9721	broad.mit.edu	37	chr10	46999469	46999469	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggcgagtcagttgtcagtgCcaccactagacctgggggac	15	11	2	1			TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr10:46999469C>A	ENST00000374317.1	+	3	862	c.589C>A	c.(589-591)Cca>Aca	p.P197T	GPRIN2_ENST00000374314.4_Missense_Mutation_p.P197T	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	197										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GTTGTCAGTGCCACCACTAGA	0.632																																						ENST00000374314.4																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						c.(589-591)Cca>Aca		G protein regulated inducer of neurite outgrowth 2							40	40	40					10																	46999469		2203	4300	6503	SO:0001583	missense	9721							g.chr10:46999469C>A	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"KIAA0514"	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.589C>A	10.37:g.46999469C>A	ENSP00000363436:p.Pro197Thr					GPRIN2_ENST00000374317.1_Missense_Mutation_p.P197T	p.P197T			O60269	GRIN2_HUMAN			1	1544	+			197					Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	c.589C>A	CCDS31192.1	.	.	.	.	.	.	.	.	.	.	C	3.245	-0.154557	0.06544	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.04049	3.72;3.72	5.18	1.22	0.21188	.	0.899225	0.09337	N	0.816054	T	0.04543	0.0124	L	0.36672	1.1	0.09310	N	1	B	0.25667	0.131	B	0.28232	0.087	T	0.47573	-0.9107	10	0.28530	T	0.3	-0.0194	4.8976	0.13759	0.0:0.5847:0.1541:0.2612	.	197	O60269	GRIN2_HUMAN	T	197	ENSP00000363436:P197T;ENSP00000363433:P197T	ENSP00000363433:P197T	P	+	1	0	GPRIN2	46419475	0.000000	0.05858	0.005000	0.12908	0.009000	0.06853	-0.274000	0.08537	0.032000	0.15435	-0.263000	0.10527	CCA		0.632	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		9	26	1	0	1.12685e-05	1	1.12685e-05	9	26					A	46999469	C	A	46999469	3	1	476	1	0	0	0	0	1	0	0	0	6730	739	26	4	591	4	GPRIN2	10	46999469	Missense_Mutation	SNP	C	TCGA-KS-A41F-01A-11D-A23M-08	13518162	46999469	88535278	14	9752											
CCDC86	79080	broad.mit.edu	37	chr11	60610042	60610043	+	Frame_Shift_Ins	INS	-	-	C													ggaggagctgaccccgggggINSccccccagcatcagctaccg							TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr11:60610042_60610043insC	ENST00000227520.5	+	1	499_500	c.445_446insC	c.(445-447)gccfs	p.A149fs	RP11-804A23.2_ENST00000539897.1_RNA|RP11-804A23.4_ENST00000538705.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	149	Pro-rich.				viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						GACCCCGGGGGCCCCCCAGCAT	0.634																																						ENST00000227520.5																			0				endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						c.(445-447)cccfs		coiled-coil domain containing 86																																				SO:0001589	frameshift_variant	79080				interspecies interaction between organisms	nucleus		g.chr11:60610042_60610043insC	AK025974	CCDS7993.1	11q12.2	2006-03-16			ENSG00000110104	ENSG00000110104			28359	protein-coding gene	gene with protein product		611293					Standard	NM_024098		Approved	MGC2574	uc001nqa.2	Q9H6F5	OTTHUMG00000167706	ENST00000227520.5:c.451dupC	11.37:g.60610048_60610048dupC	ENSP00000227520:p.Ala149fs					RP11-804A23.4_ENST00000538705.1_RNA|RP11-804A23.2_ENST00000539897.1_RNA	p.P149fs	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN			1	499_500	+			149			Pro-rich.		B4DY99	Frame_Shift_Ins	INS	ENST00000227520.5	37	c.445_446insC	CCDS7993.1																																																																																				0.634	CCDC86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395743.1	NM_024098		7	97						7	97	---	---	---	---	C	60610043	-	C	60610042	7	5	476	1	0	1	1	0	0	0	0	0	2861	1203	42	0	447	0	CCDC86	11	60610042	Frame_Shift_Ins	INS	-	TCGA-KS-A41F-01A-11D-A23M-08		60610042	74396474	15	9753											
TSC22D1	8848	broad.mit.edu	37	chr13	45148706	45148708	+	In_Frame_Del	DEL	TGC	TGC	-													gttgctgttgttgttgttgtTgctgctgctgctgctgcacc					rs112613609		TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr13:45148706_45148708delTGC	ENST00000458659.2	-	1	1993_1995	c.1503_1505delGCA	c.(1501-1506)cagcaa>caa	p.501_502QQ>Q	TSC22D1_ENST00000501704.2_In_Frame_Del_p.501_502QQ>Q|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	501	Gln-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		ttgttgttgttgctgctgctgct	0.507																																						ENST00000458659.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1501-1506)caa>ca		TSC22 domain family, member 1																																				SO:0001651	inframe_deletion	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45148706_45148708delTGC	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"transforming growth factor beta 1 induced transcript 4"	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1503_1505delGCA	13.37:g.45148715_45148717delTGC	ENSP00000397435:p.Gln509del					TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ507del	p.QQ507del	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	1993_1995	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	507			Gln-rich.		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	In_Frame_Del	DEL	ENST00000458659.2	37	c.1503_1505delGCA	CCDS31966.1																																																																																				0.507	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		7	154						7	154	---	---	---	---	-	45148708	TGC	-	45148706	7	5	476	1	0	1	0	1	0	0	0	0	16604	1812	63	0	1857	0	TSC22D1	13	45148706	In_Frame_Del	DEL	TGC	TCGA-KS-A41F-01A-11D-A23M-08		45148706	70021172	16	9754											
FARP1	10160	broad.mit.edu	37	chr13	99038023	99038023	+	Frame_Shift_Del	DEL	G	G	-													gccaaggacagggaaggcacGaagatcaatctggccgttgc							TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr13:99038023delG	ENST00000319562.6	+	8	979	c.714delG	c.(712-714)acgfs	p.T238fs	FARP1_ENST00000595437.1_Frame_Shift_Del_p.T238fs|FARP1_ENST00000376586.2_Frame_Shift_Del_p.T238fs	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	238	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GGGAAGGCACGAAGATCAATC	0.537																																						ENST00000376586.2																			0				breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49						c.(712-714)acfs		FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)							110	97	101					13																	99038023		2203	4300	6503	SO:0001589	frameshift_variant	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99038023delG	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"Rho guanine nucleotide exchange factors", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Pleckstrin homology (PH) domain containing"	3591	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 75"	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.714delG	13.37:g.99038023delG	ENSP00000322926:p.Thr238fs					FARP1_ENST00000595437.1_Frame_Shift_Del_p.T238fs|FARP1_ENST00000319562.6_Frame_Shift_Del_p.T238fs	p.T238fs			Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		8	1050	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		238			FERM.		Q5JVI9|Q6IQ29	Frame_Shift_Del	DEL	ENST00000319562.6	37	c.714delG	CCDS9487.1																																																																																				0.537	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		7	79						7	79	---	---	---	---	-	99038023	G	-	99038023	7	5	476	1	0	1	0	1	0	0	0	0	5676	1045	37	0	963	0	FARP1	13	99038023	Frame_Shift_Del	DEL	G	TCGA-KS-A41F-01A-11D-A23M-08	53889317	99038023	16131855	17	9755											
PML	5371	broad.mit.edu	37	chr15	74287226	74287226	+	Frame_Shift_Del	DEL	C	C	-													cccaggagcccaccatgcctCcccccgagaccccctctgaa					rs376726233		TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr15:74287226delC	ENST00000268058.3	+	1	169	c.73delC	c.(73-75)cccfs	p.P26fs	STOML1_ENST00000316900.5_5'Flank|PML_ENST00000563500.1_Frame_Shift_Del_p.P26fs|PML_ENST00000359928.4_Frame_Shift_Del_p.P26fs|PML_ENST00000564428.1_Frame_Shift_Del_p.P26fs|PML_ENST00000565898.1_Frame_Shift_Del_p.P26fs|PML_ENST00000567543.1_Frame_Shift_Del_p.P26fs|STOML1_ENST00000316911.6_5'Flank|STOML1_ENST00000561656.1_5'Flank|STOML1_ENST00000564777.1_5'Flank|STOML1_ENST00000359750.4_5'Flank|PML_ENST00000268059.6_Frame_Shift_Del_p.P26fs|STOML1_ENST00000541638.1_5'Flank|PML_ENST00000569477.1_Frame_Shift_Del_p.P26fs|PML_ENST00000435786.2_Frame_Shift_Del_p.P26fs|PML_ENST00000436891.3_Frame_Shift_Del_p.P26fs|PML_ENST00000569965.1_Frame_Shift_Del_p.P26fs|PML_ENST00000395135.3_Frame_Shift_Del_p.P26fs|PML_ENST00000395132.2_Frame_Shift_Del_p.P26fs|PML_ENST00000354026.6_Frame_Shift_Del_p.P26fs	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	26	Pro-rich.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CACCATGCCTCCCCCCGAGAC	0.652			T	"RARA, PAX5"	"APL, ALL"																																	ENST00000565898.1				Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	"RARA, PAX5"		"APL, ALL"		0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						c.(73-75)ccfs		promyelocytic leukemia							3	4	3					15																	74287226		1957	3899	5856	SO:0001589	frameshift_variant	5371				cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr15:74287226delC	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.73delC	15.37:g.74287226delC	ENSP00000268058:p.Pro26fs					PML_ENST00000563500.1_Frame_Shift_Del_p.P26fs|PML_ENST00000268058.3_Frame_Shift_Del_p.P26fs|PML_ENST00000268059.6_Frame_Shift_Del_p.P26fs|PML_ENST00000436891.3_Frame_Shift_Del_p.P26fs|PML_ENST00000395132.2_Frame_Shift_Del_p.P26fs|PML_ENST00000395135.3_Frame_Shift_Del_p.P26fs|PML_ENST00000359928.4_Frame_Shift_Del_p.P26fs|PML_ENST00000354026.6_Frame_Shift_Del_p.P26fs|PML_ENST00000569477.1_Frame_Shift_Del_p.P26fs|PML_ENST00000567543.1_Frame_Shift_Del_p.P26fs|PML_ENST00000569965.1_Frame_Shift_Del_p.P26fs|PML_ENST00000435786.2_Frame_Shift_Del_p.P26fs|PML_ENST00000564428.1_Frame_Shift_Del_p.P26fs	p.P26fs			P29590	PML_HUMAN			1	157	+			26			Pro-rich.		E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Frame_Shift_Del	DEL	ENST00000268058.3	37	c.73delC	CCDS10255.1																																																																																				0.652	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		2	4						2	4	---	---	---	---	-	74287226	C	-	74287226	7	5	476	1	0	1	0	1	0	0	0	0	12135	855	30	0	75	0	PML	15	74287226	Frame_Shift_Del	DEL	C	TCGA-KS-A41F-01A-11D-A23M-08		74287226	28244166	18	9756											
ARHGEF15	22899	broad.mit.edu	37	chr17	8215408	8215408	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccccacgcagaagcccccTcggatcatccgcccccgccc	7	25	1	1			TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr17:8215408T>C	ENST00000361926.3	+	2	161	c.51T>C	c.(49-51)ccT>ccC	p.P17P	ARHGEF15_ENST00000421050.1_Silent_p.P17P	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	17	Pro-rich.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						AGAAGCCCCCTCGGATCATCC	0.627																																						ENST00000361926.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(49-51)ccT>ccC		Rho guanine nucleotide exchange factor (GEF) 15							62	68	66					17																	8215408		2203	4300	6503	SO:0001819	synonymous_variant	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8215408T>C	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"Rho guanine nucleotide exchange factors"	15590	protein-coding gene	gene with protein product	"Rho guanine exchange factor (GEF) 15"	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.51T>C	17.37:g.8215408T>C						ARHGEF15_ENST00000421050.1_Silent_p.P17P	p.P17P	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			2	161	+			17			Pro-rich.		A8K6G1|Q8N449|Q9H8B4	Silent	SNP	ENST00000361926.3	37	c.51T>C	CCDS11139.1																																																																																				0.627	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		5	60	0	0	0	1	0	5	60					C	8215408	T	C	8215408	2	2	476	1	0	0	0	0	0	0	0	1	898	1538	54	3		3	ARHGEF15	17	8215408	Silent	SNP	T	TCGA-KS-A41F-01A-11D-A23M-08		8215408	72979802	19	9757											
AFMID	125061	broad.mit.edu	37	chr17	76198628	76198628	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcctgctgcatgtcccctAtggagacggcgaaggggaga	16	10	0	2			TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr17:76198628A>G	ENST00000327898.5	+	3	212	c.203A>G	c.(202-204)tAt>tGt	p.Y68C	AFMID_ENST00000409257.5_Missense_Mutation_p.Y68C|AFMID_ENST00000588800.1_Intron|AFMID_ENST00000591952.1_Intron					arylformamidase											autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			CATGTCCCCTATGGAGACGGC	0.602																																						ENST00000409257.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19						c.(202-204)tAt>tGt		arylformamidase							61	63	62					17																	76198628		2203	4300	6503	SO:0001583	missense	125061					cytosol|nucleus	arylformamidase activity	g.chr17:76198628A>G	BX648442	CCDS32750.2, CCDS45801.1	17q25.3	2005-11-09			ENSG00000183077	ENSG00000183077	3.5.1.9		20910	protein-coding gene	gene with protein product							Standard	NR_027083		Approved	DKFZp686F03259, KF	uc002juz.3	Q63HM1	OTTHUMG00000153957	ENST00000327898.5:c.203A>G	17.37:g.76198628A>G	ENSP00000328938:p.Tyr68Cys					AFMID_ENST00000327898.5_Missense_Mutation_p.Y68C|AFMID_ENST00000591952.1_Intron|AFMID_ENST00000588800.1_Intron	p.Y68C	NM_001010982.4|NM_001145526.2	NP_001010982.2|NP_001138998.1	Q63HM1	AFMID_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)		3	257	+			68						Missense_Mutation	SNP	ENST00000327898.5	37	c.203A>G	CCDS45801.1	.	.	.	.	.	.	.	.	.	.	A	17.49	3.402261	0.62288	.	.	ENSG00000183077	ENST00000409257;ENST00000327898	.	.	.	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.77412	0.4126	M	0.75615	2.305	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.80415	-0.1392	9	0.87932	D	0	-16.1013	12.5033	0.55968	1.0:0.0:0.0:0.0	.	68;68;68	A5PLM3;Q63HM1;Q63HM1-2	.;AFMID_HUMAN;.	C	68	.	ENSP00000328938:Y68C	Y	+	2	0	AFMID	73710223	1.000000	0.71417	0.976000	0.42696	0.532000	0.34746	6.479000	0.73600	1.962000	0.57031	0.334000	0.21626	TAT		0.602	AFMID-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333203.1	XM_058889		8	79	0	0	0	1	0	8	79					G	76198628	A	G	76198628	3	3	476	1	0	0	0	0	1	0	0	0	362	449	16	3	213	3	AFMID	17	76198628	Missense_Mutation	SNP	A	TCGA-KS-A41F-01A-11D-A23M-08	67983220	76198628	4996582	20	9758											
MADCAM1	8174	broad.mit.edu	37	chr19	501701	501702	+	In_Frame_Ins	INS	-	-	ACACCACCTCCCCGGAGCCTCCCA													gacctccccggagcctcccgINSacaccacctccccggagtct					rs71171990|rs72970252	byFrequency	TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr19:501701_501702insACACCACCTCCCCGGAGCCTCCCA	ENST00000215637.3	+	4	746_747	c.700_701insACACCACCTCCCCGGAGCCTCCCA	c.(700-702)gac>gACACCACCTCCCCGGAGCCTCCCAac	p.234_235insTTSPEPPN	MADCAM1_ENST00000587541.1_In_Frame_Ins_p.15_16insTTSPEPPN|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000346144.4_Intron|MADCAM1_ENST00000382683.4_Intron	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	234	5.5 X 8 AA tandem repeats of [PS]-P-D-T- T-S-[QP]-E.|Mucin-like.				aging (GO:0007568)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|embryo development (GO:0009790)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding involved in cell-matrix adhesion (GO:0098640)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GGAGCCTCCCGACACCACCTCC	0.653																																						ENST00000587541.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10						c.(43-45)cac>ACACCACCTCCCCGGAGCCTCCCAcac		mucosal vascular addressin cell adhesion molecule 1																																				SO:0001652	inframe_insertion	8174				cell adhesion|immune response|regulation of immune response|signal transduction	integral to membrane|membrane fraction|plasma membrane		g.chr19:501701_501702insACACCACCTCCCCGGAGCCTCCCA	U43628	CCDS12028.1, CCDS12029.1	19p13.3	2013-01-11			ENSG00000099866	ENSG00000099866		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6765	protein-coding gene	gene with protein product	"mucosal addressin cell adhesion molecule-1"	102670				9162097, 8609404	Standard	NM_130762		Approved	MACAM1	uc002los.3	Q13477	OTTHUMG00000180548	Exception_encountered	19.37:g.501701_501702insACACCACCTCCCCGGAGCCTCCCA	ENSP00000215637:p.Asp234_Thr235insThrThrSerProGluProProAsn					MADCAM1_ENST00000215637.3_In_Frame_Ins_p.233_234insTPPPRSLP|MADCAM1_ENST00000346144.4_Intron|MADCAM1_ENST00000382683.4_Intron|AC005775.2_ENST00000592413.1_RNA	p.14_15insTPPPRSLP			Q13477	MADCA_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)	2	897_898	+		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	233					A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	In_Frame_Ins	INS	ENST00000215637.3	37	c.43_44insACACCACCTCCCCGGAGCCTCCCA	CCDS12028.1																																																																																				0.653	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451884.1	NM_130760		16	33						16	33	---	---	---	---	ACACCACCTCCCCGGAGCCTCCCA	501702	-	ACACCACCTCCCCGGAGCCTCCCA	501701	7	5	476	1	0	1	1	0	0	0	0	0	9151	1058	37	0	714	0	MADCAM1	19	501701	In_Frame_Ins	INS	-	TCGA-KS-A41F-01A-11D-A23M-08		501701	58627282	21	9759											
WDR18	57418	broad.mit.edu	37	chr19	990319	990319	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcactgcggctttgggggCcccctggcccgggtggccac	16	16	0	0			TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr19:990319C>T	ENST00000251289.5	+	4	575	c.552C>T	c.(550-552)ggC>ggT	p.G184G	WDR18_ENST00000587001.2_Silent_p.G184G	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	184					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|lung(2)|skin(2)	7		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)		GCTTTGGGGGCCCCCTGGCCC	0.716																																						ENST00000251289.5																			0				endometrium(1)|kidney(2)|lung(2)|skin(2)	7						c.(550-552)ggC>ggT		WD repeat domain 18							15	16	16					19																	990319		2186	4280	6466	SO:0001819	synonymous_variant	57418							g.chr19:990319C>T		CCDS12051.1	19p13.3	2013-01-09				ENSG00000065268		"WD repeat domain containing"	17956	protein-coding gene	gene with protein product	"Involved in Processing ITS2 3 homolog (S. cerevisiae)"					22190735	Standard	NM_024100		Approved	Ipi3	uc002lqm.1	Q9BV38		ENST00000251289.5:c.552C>T	19.37:g.990319C>T						WDR18_ENST00000587001.2_Silent_p.G184G	p.G184G	NM_024100.3	NP_077005.2	Q9BV38	WDR18_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)	4	575	+		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)	184					O60390|Q9BWR2	Silent	SNP	ENST00000251289.5	37	c.552C>T	CCDS12051.1																																																																																				0.716	WDR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458225.2			3	14	0	0	0	1	0	3	14					T	990319	C	T	990319	2	4	476	1	0	0	0	0	0	0	0	1	17275	726	26	2		2	WDR18	19	990319	Silent	SNP	C	TCGA-KS-A41F-01A-11D-A23M-08	488618	990319	58138664	22	9760											
TMEM91	641649	broad.mit.edu	37	chr19	41889651	41889651	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgggccaagggggacatccAgggggcaggggccgcctccc	18	13	0	0			TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr19:41889651A>G	ENST00000392002.2	+	4	1052	c.392A>G	c.(391-393)cAg>cGg	p.Q131R	TMEM91_ENST00000447302.2_Intron|TMEM91_ENST00000356385.4_3'UTR|TMEM91_ENST00000413014.2_Intron|BCKDHA_ENST00000595085.1_Intron|TMEM91_ENST00000542945.1_3'UTR|TMEM91_ENST00000539627.1_3'UTR|TMEM91_ENST00000544232.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron|TMEM91_ENST00000436170.2_Intron|TMEM91_ENST00000604123.1_Intron	NM_001098821.1	NP_001092291.1	Q6ZNR0	TMM91_HUMAN	transmembrane protein 91	131					hematopoietic progenitor cell differentiation (GO:0002244)|response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)				lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						GGGGACATCCAGGGGGCAGGG	0.706																																						ENST00000392002.2																			0				lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						c.(391-393)cAg>cGg		transmembrane protein 91							28	33	31					19																	41889651		2042	4165	6207	SO:0001583	missense	641649							g.chr19:41889651A>G	AK130820, BC063705	CCDS42571.1, CCDS42572.1, CCDS46082.1, CCDS46083.1, CCDS46084.1	19q13.2	2009-10-16							32393	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 6"					12477932	Standard	NM_001098824		Approved	FLJ27310, IFITMD6		Q6ZNR0		ENST00000392002.2:c.392A>G	19.37:g.41889651A>G	ENSP00000375859:p.Gln131Arg					TMEM91_ENST00000539627.1_3'UTR|CTC-435M10.3_ENST00000540732.1_Intron|TMEM91_ENST00000436170.2_Intron|TMEM91_ENST00000413014.2_Intron|TMEM91_ENST00000356385.4_3'UTR|BCKDHA_ENST00000595085.1_Intron|TMEM91_ENST00000447302.2_Intron|TMEM91_ENST00000544232.1_Intron|TMEM91_ENST00000542945.1_3'UTR|TMEM91_ENST00000604123.1_Intron	p.Q131R	NM_001098821.1	NP_001092291.1					4	1052	+								C9J9D1|C9JZ62|C9K046|Q6P434	Missense_Mutation	SNP	ENST00000392002.2	37	c.392A>G	CCDS42571.1	.	.	.	.	.	.	.	.	.	.	A	13.06	2.123346	0.37436	.	.	ENSG00000142046	ENST00000392002	D	0.85702	-2.02	3.67	1.59	0.23543	.	.	.	.	.	T	0.72112	0.3420	L	0.36672	1.1	0.80722	D	1	B	0.06786	0.001	B	0.12156	0.007	T	0.56739	-0.7929	9	0.13108	T	0.6	.	4.1908	0.10419	0.6096:0.1806:0.2098:0.0	.	131	Q6ZNR0	TMM91_HUMAN	R	131	ENSP00000375859:Q131R	ENSP00000375859:Q131R	Q	+	2	0	TMEM91	46581491	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.544000	0.45761	0.615000	0.30124	0.459000	0.35465	CAG		0.706	TMEM91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398302.2			6	59	0	0	0	1	0	6	59					G	41889651	A	G	41889651	3	3	476	1	0	0	0	0	1	0	0	0	16217	188	7	3	466	3	TMEM91	19	41889651	Missense_Mutation	SNP	A	TCGA-KS-A41F-01A-11D-A23M-08	40899332	41889651	17239332	23	9761											
PSG7	5676	broad.mit.edu	37	chr19	43439887	43439887	+	RNA	SNP	T	T	A													gcttcaatcgtgacttgggcTgtggtgggcgggttccagaa							TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr19:43439887T>A	ENST00000406070.2	-	0	195				PSG7_ENST00000471557.1_RNA|PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				TGACTTGGGCTGTGGTGGGCG	0.493																																						ENST00000406070.2																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)							137	142	141					19																	43439887		2202	4300	6502			5676				female pregnancy	extracellular region		g.chr19:43439887T>A			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9524	protein-coding gene	gene with protein product		176396	"pregnancy specific beta-1-glycoprotein 7"				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439887T>A						PSG7_ENST00000446844.3_RNA		NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN			0	195	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.493	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		7	258	0	0	0	1	0	7	258					A	43439887	T	A	43439887	1	1	476	0	1	0	0	0	0	0	0	0	12660	1567	55	5		5	PSG7	19	43439887	RNA	SNP	T	TCGA-KS-A41F-01A-11D-A23M-08	1550236	43439887	15689096	24	9762	54	2									
PSG7	5676	broad.mit.edu	37	chr19	43439893	43439893	+	RNA	SNP	G	G	A													atcgtgacttgggctgtggtGggcgggttccagaagtttaa							TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr19:43439893G>A	ENST00000406070.2	-	0	189				PSG7_ENST00000471557.1_RNA|PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				GGGCTGTGGTGGGCGGGTTCC	0.507																																						ENST00000406070.2																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)							134	139	137					19																	43439893		2202	4300	6502			5676				female pregnancy	extracellular region		g.chr19:43439893G>A			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9524	protein-coding gene	gene with protein product		176396	"pregnancy specific beta-1-glycoprotein 7"				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439893G>A						PSG7_ENST00000446844.3_RNA		NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN			0	189	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.507	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		8	253	0	0	0	1	0	8	253					A	43439893	G	A	43439893	1	1	476	0	1	0	0	0	0	0	0	0	12660	1335	47	2		2	PSG7	19	43439893	RNA	SNP	G	TCGA-KS-A41F-01A-11D-A23M-08	6	43439893	15689090	25	9763	54	2									
DEPDC5	9681	broad.mit.edu	37	chr22	32198783	32198783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgtctttgaagtggaccGcctactcatgatcctgacca	11	11	2	3			TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr22:32198783G>A	ENST00000382112.3	+	14	1110	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	DEPDC5_ENST00000400249.2_Missense_Mutation_p.R347H|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R347H|DEPDC5_ENST00000382111.2_Missense_Mutation_p.R347H|DEPDC5_ENST00000400246.1_Missense_Mutation_p.R347H|DEPDC5_ENST00000400248.2_Missense_Mutation_p.R347H|DEPDC5_ENST00000382105.2_Missense_Mutation_p.R347H|DEPDC5_ENST00000536766.1_Missense_Mutation_p.R319H|DEPDC5_ENST00000400242.3_Missense_Mutation_p.R347H|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R347H	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	347					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GAAGTGGACCGCCTACTCATG	0.498																																						ENST00000400246.1																			0				breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(1039-1041)cGc>cAc		DEP domain containing 5							173	169	170					22																	32198783		2022	4184	6206	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32198783G>A	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.1040G>A	22.37:g.32198783G>A	ENSP00000371546:p.Arg347His					DEPDC5_ENST00000382105.2_Missense_Mutation_p.R347H|DEPDC5_ENST00000382111.2_Missense_Mutation_p.R347H|DEPDC5_ENST00000382112.3_Missense_Mutation_p.R347H|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R347H|DEPDC5_ENST00000536766.1_Missense_Mutation_p.R319H|DEPDC5_ENST00000400242.3_Missense_Mutation_p.R347H|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R347H|DEPDC5_ENST00000400248.1_Missense_Mutation_p.R347H|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R347H	p.R347H			O75140	DEPD5_HUMAN			15	1182	+			347					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.1040G>A	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	G	36	5.708759	0.96821	.	.	ENSG00000100150	ENST00000535622;ENST00000536766;ENST00000400242;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	T;T;T;T;T;T;T;T;T;T	0.47528	1.4;1.4;0.84;1.79;1.79;1.78;1.38;1.78;1.78;1.79	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.71668	0.3367	M	0.79805	2.47	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.992;1.0;0.988	D;D;D;D;D;P	0.91635	0.999;0.998;0.997;0.965;0.999;0.674	T	0.74219	-0.3736	10	0.56958	D	0.05	.	18.3458	0.90321	0.0:0.0:1.0:0.0	.	347;319;347;347;347;347	B9EGN9;F5GYZ8;B4DH93;A8MPX9;O75140;O75140-2	.;.;.;.;DEPD5_HUMAN;.	H	347;319;347;347;347;347;347;347;347;347;347	ENSP00000440210:R347H;ENSP00000441358:R319H;ENSP00000383101:R347H;ENSP00000266091:R347H;ENSP00000383108:R347H;ENSP00000383105:R347H;ENSP00000371539:R347H;ENSP00000371546:R347H;ENSP00000371545:R347H;ENSP00000383107:R347H	ENSP00000266091:R347H	R	+	2	0	DEPDC5	30528783	1.000000	0.71417	0.960000	0.40013	0.998000	0.95712	9.554000	0.98121	2.573000	0.86826	0.650000	0.86243	CGC		0.498	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		4	110	0	0	0	1	0	4	110					A	32198783	G	A	32198783	3	1	476	1	0	0	0	0	1	0	0	0	4442	1087	38	1	1094	1	DEPDC5	22	32198783	Missense_Mutation	SNP	G	TCGA-KS-A41F-01A-11D-A23M-08		32198783	19105783	26	9764											
ZNF41	7592	broad.mit.edu	37	chrX	47326846	47326846	+	Frame_Shift_Del	DEL	G	G	-													gtccctctgcagccagggccGgggaccatgggggagagtcc					rs34711808		TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chrX:47326846delG	ENST00000377065.4	-	2	674	c.35delC	c.(34-36)ccgfs	p.P12fs	ZNF41_ENST00000397050.2_Frame_Shift_Del_p.R9fs|ZNF41_ENST00000465311.1_5'UTR|ZNF41_ENST00000313116.7_Frame_Shift_Del_p.P12fs	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	12					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				AGCCAGGGCCGGGGACCATGG	0.612																																						ENST00000377065.4																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24						c.(34-36)cgfs		zinc finger protein 41							35	27	30					X																	47326846		2200	4295	6495	SO:0001589	frameshift_variant	7592					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47326846delG	X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"Zinc fingers, C2H2-type", "-"	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.35delC	X.37:g.47326846delG	ENSP00000366265:p.Pro12fs					ZNF41_ENST00000397050.2_Frame_Shift_Del_p.R9fs|ZNF41_ENST00000313116.7_Frame_Shift_Del_p.P12fs|ZNF41_ENST00000465311.1_5'UTR	p.P12fs	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN			2	674	-		all_lung(315;0.000129)	12					A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Frame_Shift_Del	DEL	ENST00000377065.4	37	c.35delC	CCDS14279.1																																																																																				0.612	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380		2	4						2	4	---	---	---	---	-	47326846	G	-	47326846	7	5	476	1	0	1	0	1	0	0	0	0	17886	1116	39	0	2320	0	ZNF41	23	47326846	Frame_Shift_Del	DEL	G	TCGA-KS-A41F-01A-11D-A23M-08		47326846	107943714	27	9765											
SLC25A43	203427	broad.mit.edu	37	chrX	118540494	118540494	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcatggctgggagtctcgCaggcatggtttccaccattg	12	11	2	0			TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chrX:118540494C>T	ENST00000217909.7	+	2	691	c.347C>T	c.(346-348)gCa>gTa	p.A116V	SLC25A43_ENST00000336249.7_Missense_Mutation_p.A116V|SLC25A43_ENST00000488158.1_3'UTR	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN	solute carrier family 25, member 43	116					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						GGGAGTCTCGCAGGCATGGTT	0.512																																						ENST00000217909.7																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						c.(346-348)gCa>gTa		solute carrier family 25, member 43							94	83	86					X																	118540494		2203	4300	6503	SO:0001583	missense	203427				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chrX:118540494C>T	BC019584	CCDS14577.1	Xq24	2013-05-22			ENSG00000077713	ENSG00000077713		"Solute carriers"	30557	protein-coding gene	gene with protein product		300641				16949250	Standard	NM_145305		Approved		uc004erd.3	Q8WUT9	OTTHUMG00000022272	ENST00000217909.7:c.347C>T	X.37:g.118540494C>T	ENSP00000217909:p.Ala116Val					SLC25A43_ENST00000488158.1_3'UTR|SLC25A43_ENST00000336249.7_Missense_Mutation_p.A116V	p.A116V	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN			2	691	+			116					O75854|Q8N9L5	Missense_Mutation	SNP	ENST00000217909.7	37	c.347C>T	CCDS14577.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.814793	0.90790	.	.	ENSG00000077713	ENST00000217909;ENST00000336249;ENST00000326714	D;D	0.88046	-2.33;-2.33	4.9	4.9	0.64082	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.94703	0.8291	M	0.91140	3.18	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.99	D	0.95948	0.8952	10	0.87932	D	0	.	16.1911	0.81989	0.0:1.0:0.0:0.0	.	116;116	B4E1P8;Q8WUT9	.;S2543_HUMAN	V	116;116;64	ENSP00000217909:A116V;ENSP00000338628:A116V	ENSP00000217909:A116V	A	+	2	0	SLC25A43	118424522	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	6.944000	0.75940	2.017000	0.59298	0.287000	0.19450	GCA		0.512	SLC25A43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058028.1	NM_145305		4	94	0	0	0	1	0	4	94					T	118540494	C	T	118540494	3	4	476	1	0	0	0	0	1	0	0	0	14508	710	25	2	353	2	SLC25A43	23	118540494	Missense_Mutation	SNP	C	TCGA-KS-A41F-01A-11D-A23M-08	71213648	118540494	36730066	28	9766											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290	byFrequency	TCGA-KS-A41I-01A-11D-A23M-08	TCGA-KS-A41I-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2141ba0-087c-4982-afda-8e955eb1a699	bb0aa13f-91b1-49bb-ab18-78372bf5d8ff	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		neuroblastoma RAS viral (v-ras) oncogene homolog							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		62	110	0	0	0	1	0	62	110					C	115256529	T	C	115256529	3	2	477	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-KS-A41I-01A-11D-A23M-08		115256529	133994092	1	9767											
OBSCN	84033	broad.mit.edu	37	chr1	228434397	228434397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagtgcgcatagaggctgCgggctgcatgcggcagctgg	18	9	0	1			TCGA-KS-A41I-01A-11D-A23M-08	TCGA-KS-A41I-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2141ba0-087c-4982-afda-8e955eb1a699	bb0aa13f-91b1-49bb-ab18-78372bf5d8ff	g.chr1:228434397C>T	ENST00000422127.1	+	13	3970	c.3926C>T	c.(3925-3927)gCg>gTg	p.A1309V	OBSCN_ENST00000284548.11_Missense_Mutation_p.A1309V|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.A1401V	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1309	Ig-like 13.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ATAGAGGCTGCGGGCTGCATG	0.637																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(4201-4203)gCg>gTg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF																																				SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228434397C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.3926C>T	1.37:g.228434397C>T	ENSP00000409493:p.Ala1309Val					OBSCN_ENST00000422127.1_Missense_Mutation_p.A1309V|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.A1309V	p.A1401V	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			14	4276	+		Prostate(94;0.0405)	383	V -> A (in Ref. 1; CAC85749).|V -> T (in Ref. 1; CAC85746).		Ig-like 14.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.4202C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	6.272	0.418218	0.11870	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.66815	-0.23;-0.23	5.01	-10.0	0.00425	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.320640	0.05001	N	0.469196	T	0.45617	0.1351	N	0.21142	0.635	0.09310	N	0.999999	B;B	0.25772	0.134;0.1	B;B	0.26202	0.067;0.012	T	0.29119	-1.0022	10	0.30078	T	0.28	.	9.1303	0.36841	0.7356:0.1258:0.0713:0.0674	.	1309;1309	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	V	1309	ENSP00000284548:A1309V;ENSP00000409493:A1309V	ENSP00000284548:A1309V	A	+	2	0	OBSCN	226501020	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.278000	0.18753	-1.537000	0.01736	-1.834000	0.00590	GCG		0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		4	158	0	0	0	1	0	4	158					T	228434397	C	T	228434397	3	4	477	1	0	0	0	0	1	0	0	0	10812	768	27	1	3972	1	OBSCN	1	228434397	Missense_Mutation	SNP	C	TCGA-KS-A41I-01A-11D-A23M-08	113177868	228434397	20816224	2	9768											
KIAA1109	84162	broad.mit.edu	37	chr4	123193497	123193497	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tagaggcagatattggtggaCtaacaatggaatcagaactg	12	5	1	3			TCGA-KS-A41I-01A-11D-A23M-08	TCGA-KS-A41I-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2141ba0-087c-4982-afda-8e955eb1a699	bb0aa13f-91b1-49bb-ab18-78372bf5d8ff	g.chr4:123193497C>G	ENST00000264501.4	+	48	8756	c.8383C>G	c.(8383-8385)Cta>Gta	p.L2795V	KIAA1109_ENST00000455637.1_Missense_Mutation_p.L2795V|KIAA1109_ENST00000388738.3_Missense_Mutation_p.L2795V			Q2LD37	K1109_HUMAN	KIAA1109	2795					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TATTGGTGGACTAACAATGGA	0.388																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(8383-8385)Cta>Gta		KIAA1109							100	98	99					4																	123193497		1906	4134	6040	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123193497C>G	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.8383C>G	4.37:g.123193497C>G	ENSP00000264501:p.Leu2795Val					KIAA1109_ENST00000455637.1_Missense_Mutation_p.L2795V|KIAA1109_ENST00000388738.3_Missense_Mutation_p.L2795V	p.L2795V			Q2LD37	K1109_HUMAN			48	8756	+			2795					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.8383C>G	CCDS43267.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	19.94|19.94|19.94	3.920377|3.920377|3.920377	0.73098|0.73098|0.73098	.|.|.	.|.|.	ENSG00000138688|ENSG00000138688|ENSG00000138688	ENST00000446180|ENST00000264501;ENST00000388738;ENST00000455637|ENST00000419325	.|T;T;T|.	.|0.60171|.	.|0.77;0.77;0.21|.	5.73|5.73|5.73	5.73|5.73|5.73	0.89815|0.89815|0.89815	.|.|.	.|0.000000|.	.|0.56097|.	.|D|.	.|0.000025|.	T|T|T	0.73544|0.73544|0.73544	0.3600|0.3600|0.3600	L|L|L	0.58810|0.58810|0.58810	1.83|1.83|1.83	0.46954|0.46954|0.46954	D|D|D	0.999264|0.999264|0.999264	.|D;D;D|.	.|0.69078|.	.|0.996;0.996;0.997|.	.|D;D;D|.	.|0.75484|.	.|0.986;0.986;0.978|.	T|T|T	0.69624|0.69624|0.69624	-0.5095|-0.5095|-0.5095	5|10|5	.|0.87932|.	.|D|.	.|0|.	.|.|.	19.9019|19.9019|19.9019	0.96988|0.96988|0.96988	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|2795;2794;2795|.	.|Q2LD37-6;Q2LD37-2;Q2LD37|.	.|.;.;K1109_HUMAN|.	E|V|S	1367|2795|752	.|ENSP00000264501:L2795V;ENSP00000373390:L2795V;ENSP00000389925:L2795V|.	.|ENSP00000264501:L2795V|.	D|L|T	+|+|+	3|1|2	2|2|0	KIAA1109|KIAA1109|KIAA1109	123412947|123412947|123412947	0.998000|0.998000|0.998000	0.40836|0.40836|0.40836	0.991000|0.991000|0.991000	0.47740|0.47740|0.47740	0.996000|0.996000|0.996000	0.88848|0.88848|0.88848	3.936000|3.936000|3.936000	0.56568|0.56568|0.56568	2.698000|2.698000|2.698000	0.92095|0.92095|0.92095	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	GAC|CTA|ACT		0.388	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		24	36	0	0	0	1	0	24	36					G	123193497	C	G	123193497	3	3	477	1	0	0	0	0	1	0	0	0	8208	564	20	4	8565	4	KIAA1109	4	123193497	Missense_Mutation	SNP	C	TCGA-KS-A41I-01A-11D-A23M-08		123193497	67960779	3	9769											
DNAH5	1767	broad.mit.edu	37	chr5	13769625	13769625	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaccatgtcggctttatcGttggccacttgtagctcctt	8	14	0	0			TCGA-KS-A41I-01A-11D-A23M-08	TCGA-KS-A41I-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2141ba0-087c-4982-afda-8e955eb1a699	bb0aa13f-91b1-49bb-ab18-78372bf5d8ff	g.chr5:13769625G>A	ENST00000265104.4	-	57	9809	c.9705C>T	c.(9703-9705)aaC>aaT	p.N3235N	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3235	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGGCTTTATCGTTGGCCACTT	0.423									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(9703-9705)aaC>aaT		dynein, axonemal, heavy chain 5							277	235	249					5																	13769625		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13769625G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9705C>T	5.37:g.13769625G>A						DNAH5_ENST00000504001.3_5'UTR	p.N3235N	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			57	9809	-	Lung NSC(4;0.00476)		3235			Stalk (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.9705C>T	CCDS3882.1																																																																																				0.423	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		6	128	0	0	0	1	0	6	128					A	13769625	G	A	13769625	2	1	477	1	0	0	0	0	0	0	0	1	4604	1136	40	1		1	DNAH5	5	13769625	Silent	SNP	G	TCGA-KS-A41I-01A-11D-A23M-08		13769625	167145635	4	9770											
MAST4	375449	broad.mit.edu	37	chr5	66459102	66459121	+	Frame_Shift_Del	DEL	CGGAAGGCGAAAGTCCGCCG	CGGAAGGCGAAAGTCCGCCG	-													ggcgggcagcggtaccggtcCggaaggcgaaagtccgccgg					rs368420355|rs577682422|rs372321662	byFrequency	TCGA-KS-A41I-01A-11D-A23M-08	TCGA-KS-A41I-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2141ba0-087c-4982-afda-8e955eb1a699	bb0aa13f-91b1-49bb-ab18-78372bf5d8ff	g.chr5:66459102_66459121delCGGAAGGCGAAAGTCCGCCG	ENST00000403625.2	+	29	4390_4409	c.4095_4114delCGGAAGGCGAAAGTCCGCCG	c.(4093-4116)tccggaaggcgaaagtccgccggcfs	p.GRRKSAG1366fs	MAST4_ENST00000261569.7_Frame_Shift_Del_p.GRRKSAG1172fs|MAST4_ENST00000404260.3_Frame_Shift_Del_p.GRRKSAG1369fs|MAST4_ENST00000405643.1_Frame_Shift_Del_p.GRRKSAG1187fs|MAST4_ENST00000403666.1_Frame_Shift_Del_p.GRRKSAG1177fs	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1369						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GGTACCGGTCCGGAAGGCGAAAGTCCGCCGGCAACATCCC	0.677																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(4102-4125)tcgcfs		microtubule associated serine/threonine kinase family member 4																																				SO:0001589	frameshift_variant	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66459102_66459121delCGGAAGGCGAAAGTCCGCCG	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.4095_4114delCGGAAGGCGAAAGTCCGCCG	5.37:g.66459102_66459121delCGGAAGGCGAAAGTCCGCCG	ENSP00000385727:p.Gly1366fs					MAST4_ENST00000261569.7_Frame_Shift_Del_p.SGRRKSAG1171fs|MAST4_ENST00000405643.1_Frame_Shift_Del_p.SGRRKSAG1186fs|MAST4_ENST00000403625.2_Frame_Shift_Del_p.SGRRKSAG1365fs|MAST4_ENST00000403666.1_Frame_Shift_Del_p.SGRRKSAG1176fs	p.SGRRKSAG1368fs			O15021	MAST4_HUMAN		Lung(70;0.011)	29	4412_4431	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	1368					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Frame_Shift_Del	DEL	ENST00000403625.2	37	c.4104_4123delCGGAAGGCGAAAGTCCGCCG	CCDS54861.1																																																																																				0.677	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			20	114						20	114	---	---	---	---	-	66459121	CGGAAGGCGAAAGTCCGCCG	-	66459102	7	5	477	1	0	1	0	1	0	0	0	0	9327	639	23	0	4339	0	MAST4	5	66459102	Frame_Shift_Del	DEL	CGGAAGGCGAAAGTCCGCCG	TCGA-KS-A41I-01A-11D-A23M-08	52689477	66459102	114456158	5	9771											
SEC24A	10802	broad.mit.edu	37	chr5	133996961	133996961	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggttctcagggatctgggCagactcttaatagaccacct	11	10	3	2			TCGA-KS-A41I-01A-11D-A23M-08	TCGA-KS-A41I-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2141ba0-087c-4982-afda-8e955eb1a699	bb0aa13f-91b1-49bb-ab18-78372bf5d8ff	g.chr5:133996961C>T	ENST00000398844.2	+	2	538	c.250C>T	c.(250-252)Cag>Tag	p.Q84*	SEC24A_ENST00000322887.4_Nonsense_Mutation_p.Q84*	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	84					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)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGGATCTGGGCAGACTCTTAA	0.502																																						ENST00000398844.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(250-252)Cag>Tag		SEC24 family member A							165	164	164					5																	133996961		1936	4158	6094	SO:0001587	stop_gained	10802				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr5:133996961C>T	AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"SEC24 (S. cerevisiae) related gene family, member A", "SEC24 family, member A (S. cerevisiae)"			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.250C>T	5.37:g.133996961C>T	ENSP00000381823:p.Gln84*					SEC24A_ENST00000322887.4_Nonsense_Mutation_p.Q84*	p.Q84*	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	538	+			84					A8MVW3|Q8WUV2|Q96GP7	Nonsense_Mutation	SNP	ENST00000398844.2	37	c.250C>T	CCDS43363.1	.	.	.	.	.	.	.	.	.	.	C	37	6.564437	0.97667	.	.	ENSG00000113615	ENST00000398844;ENST00000322887	.	.	.	5.78	5.78	0.91487	.	0.297211	0.18146	U	0.150242	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-0.6668	20.012	0.97458	0.0:1.0:0.0:0.0	.	.	.	.	X	84	.	ENSP00000321749:Q84X	Q	+	1	0	SEC24A	134024860	1.000000	0.71417	0.993000	0.49108	0.893000	0.52053	3.488000	0.53229	2.731000	0.93534	0.655000	0.94253	CAG		0.502	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1			5	179	0	0	0	1	0	5	179					T	133996961	C	T	133996961	4	4	477	1	0	0	0	0	0	1	0	0	13994	711	25	2	256	2	SEC24A	5	133996961	Nonsense_Mutation	SNP	C	TCGA-KS-A41I-01A-11D-A23M-08	67537859	133996961	46918299	6	9772											
PPP2R2B	5521	broad.mit.edu	37	chr5	146077635	146077635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctaaactcttcaggtaatCgaactcgggttcatggctct	8	10	5	0			TCGA-KS-A41I-01A-11D-A23M-08	TCGA-KS-A41I-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2141ba0-087c-4982-afda-8e955eb1a699	bb0aa13f-91b1-49bb-ab18-78372bf5d8ff	g.chr5:146077635C>T	ENST00000394413.3	-	3	811	c.241G>A	c.(241-243)Gat>Aat	p.D81N	PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.D139N|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.D70N|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.D81N|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.D81N|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.D70N|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.D81N|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.D87N|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.D84N|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.D147N			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	81					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCAGGTAATCGAACTCGGGT	0.383																																						ENST00000394413.3																			0				endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32						c.(241-243)Gat>Aat		protein phosphatase 2, regulatory subunit B, beta							128	134	132					5																	146077635		2203	4300	6503	SO:0001583	missense	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:146077635C>T	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9305	protein-coding gene	gene with protein product	"PP2A subunit B isoform beta"	604325	"spinocerebellar ataxia 12", "protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.241G>A	5.37:g.146077635C>T	ENSP00000377935:p.Asp81Asn					PPP2R2B_ENST00000356826.3_Missense_Mutation_p.D81N|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.D81N|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.D70N|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.D81N|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.D139N|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.D147N|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.D84N|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.D87N|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.D70N	p.D81N			Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	811	-			81					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	ENST00000394413.3	37	c.241G>A	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	C	36	5.824147	0.96989	.	.	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409	T;T;T;T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54	5.74	5.74	0.90152	Protein phosphatase 2A, regulatory subunit PR55, conserved site (1);WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.66742	0.2820	M	0.92026	3.265	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.79784	0.993;0.982;0.982;0.993;0.982;0.982	T	0.73078	-0.4096	10	0.87932	D	0	-24.1958	20.2825	0.98528	0.0:1.0:0.0:0.0	.	139;87;70;147;84;81	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.;.;.;.;.;2ABB_HUMAN	N	81;70;147;81;81;81;70;84;87;139	ENSP00000377935:D81N;ENSP00000431320:D70N;ENSP00000377936:D147N;ENSP00000377933:D81N;ENSP00000349283:D81N;ENSP00000398779:D81N;ENSP00000377932:D70N;ENSP00000336591:D84N;ENSP00000421396:D87N;ENSP00000377931:D139N	ENSP00000336591:D84N	D	-	1	0	AC011357.1	146057828	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.747000	0.85070	2.873000	0.98535	0.561000	0.74099	GAT		0.383	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		43	80	0	0	0	1	0	43	80					T	146077635	C	T	146077635	3	4	477	1	0	0	0	0	1	0	0	0	12385	884	31	1	1118	1	PPP2R2B	5	146077635	Missense_Mutation	SNP	C	TCGA-KS-A41I-01A-11D-A23M-08	12080674	146077635	34837625	7	9773											
CYP11B1	1584	broad.mit.edu	37	chr8	143957743	143957743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcaacaggagctccgccaCgatgctggtgtactgttgag	12	10	1	1			TCGA-KS-A41I-01A-11D-A23M-08	TCGA-KS-A41I-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2141ba0-087c-4982-afda-8e955eb1a699	bb0aa13f-91b1-49bb-ab18-78372bf5d8ff	g.chr8:143957743C>T	ENST00000292427.4	-	5	900	c.868G>A	c.(868-870)Gtg>Atg	p.V290M	CYP11B1_ENST00000377675.3_Missense_Mutation_p.V361M|CYP11B1_ENST00000517471.1_Missense_Mutation_p.V290M	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	290					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.V290M(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	AGCTCCGCCACGATGCTGGTG	0.587									Familial Hyperaldosteronism type I																													ENST00000292427.4																			1	Substitution - Missense(1)	p.V290M(1)	prostate(1)	central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67						c.(868-870)Gtg>Atg		cytochrome P450, family 11, subfamily B, polypeptide 1	Mitotane(DB00648)						124	102	110					8																	143957743		2203	4300	6503	SO:0001583	missense	0	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143957743C>T	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.868G>A	8.37:g.143957743C>T	ENSP00000292427:p.Val290Met					CYP11B1_ENST00000517471.1_Missense_Mutation_p.V290M|CYP11B1_ENST00000377675.3_Missense_Mutation_p.V361M	p.V290M	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN			5	900	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		290					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	c.868G>A	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	.	6.470	0.454829	0.12283	.	.	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;T	0.69306	-0.39;2.75;-0.39	4.1	-3.98	0.04082	.	0.448417	0.18197	N	0.148627	T	0.39462	0.1079	N	0.25890	0.77	0.20821	N	0.999848	B;B;P	0.45078	0.288;0.241;0.85	B;B;B	0.33620	0.153;0.094;0.167	T	0.42344	-0.9457	10	0.59425	D	0.04	.	5.6743	0.17739	0.0:0.1695:0.2926:0.5378	.	361;290;290	Q4VAR0;Q4VAQ9;P15538	.;.;C11B1_HUMAN	M	290;290;361	ENSP00000292427:V290M;ENSP00000428043:V290M;ENSP00000366903:V361M	ENSP00000292427:V290M	V	-	1	0	CYP11B1	143954745	0.923000	0.31300	0.000000	0.03702	0.001000	0.01503	-0.171000	0.09883	-0.690000	0.05142	-0.903000	0.02851	GTG		0.587	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			13	29	0	0	0	1	0	13	29					T	143957743	C	T	143957743	3	4	477	1	0	0	0	0	1	0	0	0	4145	536	19	1	663	1	CYP11B1	8	143957743	Missense_Mutation	SNP	C	TCGA-KS-A41I-01A-11D-A23M-08		143957743	2406279	8	9774											
ALOX5	240	broad.mit.edu	37	chr10	45920457	45920457	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctgatgtttggctaccagttCctgaatggctgcaaccctgt	10	11	0	2			TCGA-KS-A41I-01A-11D-A23M-08	TCGA-KS-A41I-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2141ba0-087c-4982-afda-8e955eb1a699	bb0aa13f-91b1-49bb-ab18-78372bf5d8ff	g.chr10:45920457C>G	ENST00000374391.2	+	6	764	c.711C>G	c.(709-711)ttC>ttG	p.F237L	ALOX5_ENST00000542434.1_Missense_Mutation_p.F237L	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	237	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	GCTACCAGTTCCTGAATGGCT	0.602																																						ENST00000374391.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(709-711)ttC>ttG		arachidonate 5-lipoxygenase	Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)						133	132	132					10																	45920457		2203	4300	6503	SO:0001583	missense	240				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr10:45920457C>G	J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"Arachidonate lipoxygenases"	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.711C>G	10.37:g.45920457C>G	ENSP00000363512:p.Phe237Leu					ALOX5_ENST00000542434.1_Missense_Mutation_p.F237L	p.F237L	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN			6	764	+		Lung SC(717;0.0257)	237			Lipoxygenase.		B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Missense_Mutation	SNP	ENST00000374391.2	37	c.711C>G	CCDS7212.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215939	0.79352	.	.	ENSG00000012779	ENST00000542434;ENST00000374391	T;T	0.75704	-0.96;-0.96	5.44	3.35	0.38373	Lipoxygenase, C-terminal (3);	0.158475	0.56097	D	0.000025	T	0.77916	0.4202	M	0.71296	2.17	0.47659	D	0.999481	D;P;P	0.59767	0.986;0.866;0.935	P;P;P	0.56916	0.809;0.559;0.72	T	0.76916	-0.2782	10	0.51188	T	0.08	-17.6323	4.891	0.13726	0.0:0.6332:0.0:0.3668	.	237;237;237	B7ZLS0;E5FPY8;P09917	.;.;LOX5_HUMAN	L	237	ENSP00000437634:F237L;ENSP00000363512:F237L	ENSP00000363512:F237L	F	+	3	2	ALOX5	45240463	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	1.332000	0.33805	1.303000	0.44873	0.655000	0.94253	TTC		0.602	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1			34	70	0	0	0	1	0	34	70					G	45920457	C	G	45920457	3	3	477	1	0	0	0	0	1	0	0	0	540	854	30	4	733	4	ALOX5	10	45920457	Missense_Mutation	SNP	C	TCGA-KS-A41I-01A-11D-A23M-08		45920457	89614290	9	9775											
C12orf51	283450	broad.mit.edu	37	chr12	112657210	112657210	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcttcggtcagcctgcaAaggaggtggtgggggccgag	18	9	2	0			TCGA-KS-A41I-01A-11D-A23M-08	TCGA-KS-A41I-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2141ba0-087c-4982-afda-8e955eb1a699	bb0aa13f-91b1-49bb-ab18-78372bf5d8ff	g.chr12:112657210A>G	ENST00000430131.2	-	44	6933	c.5788T>C	c.(5788-5790)Ttg>Ctg	p.L1930L	HECTD4_ENST00000550722.1_Silent_p.L2206L|HECTD4_ENST00000377560.5_Silent_p.L2180L			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1930					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TCAGCCTGCAAAGGAGGTGGT	0.592																																						ENST00000550722.1																			0											c.(6616-6618)Ttg>Ctg		HECT domain containing E3 ubiquitin protein ligase 4							62	70	67					12																	112657210		2069	4191	6260	SO:0001819	synonymous_variant	283450							g.chr12:112657210A>G	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.5788T>C	12.37:g.112657210A>G						HECTD4_ENST00000430131.2_Silent_p.L1930L|HECTD4_ENST00000377560.5_Silent_p.L2180L	p.L2206L	NM_001109662.3	NP_001103132.3					45	7011	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.6616T>C																																																																																					0.592	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		18	63	0	0	0	1	0	18	63					G	112657210	A	G	112657210	2	3	477	1	0	0	0	0	0	0	0	1	1696	11	1	3		3	C12orf51	12	112657210	Silent	SNP	A	TCGA-KS-A41I-01A-11D-A23M-08		112657210	21194685	10	9776											
TCTN2	79867	broad.mit.edu	37	chr12	124181040	124181040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gactttacatctttggcaatCgggtaatccggtttggtcat	10	8	2	0			TCGA-KS-A41I-01A-11D-A23M-08	TCGA-KS-A41I-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2141ba0-087c-4982-afda-8e955eb1a699	bb0aa13f-91b1-49bb-ab18-78372bf5d8ff	g.chr12:124181040C>T	ENST00000303372.5	+	12	1519	c.1391C>T	c.(1390-1392)tCg>tTg	p.S464L	TCTN2_ENST00000426174.2_Missense_Mutation_p.S463L	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	464					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		CTTTGGCAATCGGGTAATCCG	0.368																																						ENST00000303372.5																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1390-1392)tCg>tTg		tectonic family member 2							164	145	152					12																	124181040		2203	4300	6503	SO:0001583	missense	79867				cilium assembly|smoothened signaling pathway	integral to membrane		g.chr12:124181040C>T	AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"Tectonic proteins"	25774	protein-coding gene	gene with protein product	"Meckel syndrome, type 8"	613846	"chromosome 12 open reading frame 38"	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.1391C>T	12.37:g.124181040C>T	ENSP00000304941:p.Ser464Leu					TCTN2_ENST00000426174.2_Missense_Mutation_p.S463L	p.S464L	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)	12	1519	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		464					A8K7Y8|B3KPW5|Q9H966	Missense_Mutation	SNP	ENST00000303372.5	37	c.1391C>T	CCDS9253.1	.	.	.	.	.	.	.	.	.	.	c	13.83	2.353438	0.41700	.	.	ENSG00000168778	ENST00000426174;ENST00000303372	D;D	0.85258	-1.96;-1.96	5.53	4.64	0.57946	.	0.548879	0.17952	N	0.156461	T	0.82185	0.4982	L	0.56769	1.78	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.06405	0.002;0.002	T	0.71027	-0.4711	10	0.37606	T	0.19	0.3937	12.9792	0.58554	0.0:0.9252:0.0:0.0748	.	463;464	A8K7Y8;Q96GX1	.;TECT2_HUMAN	L	463;464	ENSP00000395171:S463L;ENSP00000304941:S464L	ENSP00000304941:S464L	S	+	2	0	TCTN2	122746993	0.146000	0.22672	0.005000	0.12908	0.043000	0.13939	3.215000	0.51169	1.356000	0.45884	-0.220000	0.12472	TCG		0.368	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1	NM_024809		18	59	0	0	0	1	0	18	59					T	124181040	C	T	124181040	3	4	477	1	0	0	0	0	1	0	0	0	15720	893	31	1	1437	1	TCTN2	12	124181040	Missense_Mutation	SNP	C	TCGA-KS-A41I-01A-11D-A23M-08	11523830	124181040	9670855	11	9777											
TMEM90A	646658	broad.mit.edu	37	chr14	74874341	74874341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtggctaggaagagggccCggcgggaggtggtgctggcc	22	8	0	1	rs371683802		TCGA-KS-A41I-01A-11D-A23M-08	TCGA-KS-A41I-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2141ba0-087c-4982-afda-8e955eb1a699	bb0aa13f-91b1-49bb-ab18-78372bf5d8ff	g.chr14:74874341C>T	ENST00000554823.1	-	3	675	c.614G>A	c.(613-615)cGg>cAg	p.R205Q	SYNDIG1L_ENST00000331628.3_Missense_Mutation_p.R205Q			A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	205					response to biotic stimulus (GO:0009607)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						GAAGAGGGCCCGGCGGGAGGT	0.637																																						ENST00000331628.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						c.(613-615)cGg>cAg		synapse differentiation inducing 1-like		C	GLN/ARG	0,4190		0,0,2095	60	79	73		614	4.8	1.0	14		73	1,8465		0,1,4232	no	missense	SYNDIG1L	NM_001105579.1	43	0,1,6327	TT,TC,CC		0.0118,0.0,0.0079	probably-damaging	205/239	74874341	1,12655	2095	4233	6328	SO:0001583	missense	646658				response to biotic stimulus	Golgi apparatus|integral to membrane		g.chr14:74874341C>T		CCDS41970.1	14q24.3	2011-06-30	2011-06-30	2011-06-30		ENSG00000183379			32388	protein-coding gene	gene with protein product	"caudate-and putamen-enriched sequence", "interferon induced transmembrane protein domain containing 4"	609999	"transmembrane protein 90A"	TMEM90A		16359841	Standard	NM_001105579		Approved	capucin, IFITMD4	uc001xpx.2	A6NDD5		ENST00000554823.1:c.614G>A	14.37:g.74874341C>T	ENSP00000450439:p.Arg205Gln					SYNDIG1L_ENST00000554823.1_Missense_Mutation_p.R205Q	p.R205Q	NM_001105579.1	NP_001099049.1	A6NDD5	SYN1L_HUMAN			4	861	-			205						Missense_Mutation	SNP	ENST00000554823.1	37	c.614G>A	CCDS41970.1	.	.	.	.	.	.	.	.	.	.	C	35	5.508377	0.96386	0.0	1.18E-4	ENSG00000183379	ENST00000331628;ENST00000554823	D;D	0.86366	-2.11;-2.11	4.84	4.84	0.62591	.	0.000000	0.64402	D	0.000001	D	0.88811	0.6538	N	0.19112	0.55	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.89583	0.3822	10	0.46703	T	0.11	-6.5798	18.1386	0.89631	0.0:1.0:0.0:0.0	.	205	A6NDD5	SYN1L_HUMAN	Q	205	ENSP00000331474:R205Q;ENSP00000450439:R205Q	ENSP00000331474:R205Q	R	-	2	0	SYNDIG1L	73944094	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.927000	0.70080	2.510000	0.84645	0.561000	0.74099	CGG		0.637	SYNDIG1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412341.1	XM_938515		7	145	0	0	0	1	0	7	145					T	74874341	C	T	74874341	3	4	477	1	0	0	0	0	1	0	0	0	16215	652	23	1	106	1	TMEM90A	14	74874341	Missense_Mutation	SNP	C	TCGA-KS-A41I-01A-11D-A23M-08		74874341	32475199	12	9778											
PLA2G4D	283748	broad.mit.edu	37	chr15	42379590	42379590	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtcttaaacttcattccagGtgcggtcgacagctgtagga	12	9	2	0			TCGA-KS-A41I-01A-11D-A23M-08	TCGA-KS-A41I-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2141ba0-087c-4982-afda-8e955eb1a699	bb0aa13f-91b1-49bb-ab18-78372bf5d8ff	g.chr15:42379590G>T	ENST00000290472.3	-	3	257	c.163C>A	c.(163-165)Cct>Act	p.P55T		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	55	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		TTCATTCCAGGTGCGGTCGAC	0.537																																						ENST00000290472.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27						c.(163-165)Cct>Act		phospholipase A2, group IVD (cytosolic)							238	207	217					15																	42379590		2203	4299	6502	SO:0001583	missense	283748				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity	g.chr15:42379590G>T	AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.163C>A	15.37:g.42379590G>T	ENSP00000290472:p.Pro55Thr						p.P55T	NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)	3	257	-		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)	55			C2.		Q8N176	Missense_Mutation	SNP	ENST00000290472.3	37	c.163C>A	CCDS32203.1	.	.	.	.	.	.	.	.	.	.	G	5.870	0.344732	0.11126	.	.	ENSG00000159337	ENST00000290472	T	0.68181	-0.31	5.15	2.84	0.33178	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.428084	0.22424	N	0.060257	T	0.49406	0.1555	L	0.33624	1.015	0.09310	N	1	B	0.12630	0.006	B	0.20384	0.029	T	0.30357	-0.9981	10	0.34782	T	0.22	-6.9603	4.696	0.12804	0.3604:0.0:0.6396:0.0	.	55	Q86XP0	PA24D_HUMAN	T	55	ENSP00000290472:P55T	ENSP00000290472:P55T	P	-	1	0	PLA2G4D	40166882	0.876000	0.30132	0.124000	0.21820	0.011000	0.07611	1.506000	0.35747	1.286000	0.44565	0.655000	0.94253	CCT		0.537	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034		14	194	1	0	0.00244969	1	0.00244969	14	194					T	42379590	G	T	42379590	3	4	477	1	0	0	0	0	1	0	0	0	12004	1261	44	4	2365	4	PLA2G4D	15	42379590	Missense_Mutation	SNP	G	TCGA-KS-A41I-01A-11D-A23M-08		42379590	60151802	13	9779											
COTL1	23406	broad.mit.edu	37	chr16	84600451	84600451	+	Nonstop_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtggcgggggctggggTtactccgtctgggcgtcgta	20	8	1	0			TCGA-KS-A41I-01A-11D-A23M-08	TCGA-KS-A41I-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2141ba0-087c-4982-afda-8e955eb1a699	bb0aa13f-91b1-49bb-ab18-78372bf5d8ff	g.chr16:84600451T>G	ENST00000262428.4	-	4	591	c.429A>C	c.(427-429)taA>taC	p.*143Y	COTL1_ENST00000567278.1_5'UTR|COTL1_ENST00000564057.1_Nonstop_Mutation_p.*74Y	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like F-actin binding protein 1	0					defense response to fungus (GO:0050832)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)			endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						GGGGCTGGGGTTACTCCGTCT	0.622																																						ENST00000262428.4																			0				endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						c.(427-429)taA>taC		coactosin-like 1 (Dictyostelium)							37	39	38					16																	84600451		2198	4300	6498	SO:0001578	stop_lost	23406					cytoplasm|cytoskeleton	actin binding|enzyme binding	g.chr16:84600451T>G	L54057	CCDS10947.1	16q24.1	2014-03-05	2014-03-05	2002-08-01	ENSG00000103187	ENSG00000103187			18304	protein-coding gene	gene with protein product		606748	"coactosin-like 1 (Dictyostelium)"			10051563, 9326934, 16924104	Standard	NM_021149		Approved	CLP	uc002fid.3	Q14019	OTTHUMG00000137634	ENST00000262428.4:c.429A>C	16.37:g.84600451T>G						COTL1_ENST00000564057.1_Nonstop_Mutation_p.*74Y|COTL1_ENST00000567278.1_5'UTR	p.*143Y	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN			4	591	-			0					B2RDU3|D3DUL9|Q86XM5	Nonstop_Mutation	SNP	ENST00000262428.4	37	c.429A>C	CCDS10947.1	.	.	.	.	.	.	.	.	.	.	T	5.605	0.296286	0.10622	.	.	ENSG00000103187	ENST00000262428	.	.	.	5.04	1.29	0.21616	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4446	0.27203	0.0:0.342:0.0:0.658	.	.	.	.	Y	143	.	.	X	-	3	2	COTL1	83157952	0.029000	0.19370	0.896000	0.35187	0.170000	0.22686	0.122000	0.15687	-0.053000	0.13289	-0.441000	0.05720	TAA		0.622	COTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269075.1	NM_021149		5	35	0	0	0	1	0	5	35					G	84600451	T	G	84600451	4	3	477	1	0	0	0	0	0	0	0	0	3761	1732	60	5	3	5	COTL1	16	84600451	Nonstop_Mutation	SNP	T	TCGA-KS-A41I-01A-11D-A23M-08		84600451	5754302	14	9780											
HOXB3	3213	broad.mit.edu	37	chr17	46629486	46629486	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggagttggtgccgggaccGcactttgggggaccactttt	16	9	0	0			TCGA-KS-A41I-01A-11D-A23M-08	TCGA-KS-A41I-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2141ba0-087c-4982-afda-8e955eb1a699	bb0aa13f-91b1-49bb-ab18-78372bf5d8ff	g.chr17:46629486G>A	ENST00000470495.1	-	1	1798	c.351C>T	c.(349-351)tgC>tgT	p.C117C	HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000485909.2_Intron|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000472863.1_Silent_p.C44C|HOXB3_ENST00000476342.1_Silent_p.C117C|HOXB3_ENST00000311626.4_Silent_p.C117C|HOXB3_ENST00000498678.1_Silent_p.C117C|HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000460160.1_Intron|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000489475.1_Silent_p.C44C			P14651	HXB3_HUMAN	homeobox B3	117					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						TGCCGGGACCGCACTTTGGGG	0.617																																						ENST00000470495.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						c.(349-351)tgC>tgT		homeobox B3							164	184	177					17																	46629486		2203	4300	6503	SO:0001819	synonymous_variant	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46629486G>A		CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"Homeoboxes / ANTP class : HOXL subclass"	5114	protein-coding gene	gene with protein product		142966	"homeo box B3"	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.351C>T	17.37:g.46629486G>A						HOXB3_ENST00000498678.1_Silent_p.C117C|HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000476342.1_Silent_p.C117C|HOXB3_ENST00000472863.1_Silent_p.C44C|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000489475.1_Silent_p.C44C|HOXB3_ENST00000311626.4_Silent_p.C117C|HOXB3_ENST00000485909.2_Intron	p.C117C			P14651	HXB3_HUMAN			1	1798	-			117					A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Silent	SNP	ENST00000470495.1	37	c.351C>T	CCDS11528.1																																																																																				0.617	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			6	412	0	0	0	1	0	6	412					A	46629486	G	A	46629486	2	1	477	1	0	0	0	0	0	0	0	1	7302	1079	38	1		1	HOXB3	17	46629486	Silent	SNP	G	TCGA-KS-A41I-01A-11D-A23M-08		46629486	34565724	15	9781											
CEP250	11190	broad.mit.edu	37	chr20	34059927	34059927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatctcttagtaggaatgCgcaagaggagaagttgtctt	12	6	2	2	rs116166982	byFrequency	TCGA-KS-A41I-01A-11D-A23M-08	TCGA-KS-A41I-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2141ba0-087c-4982-afda-8e955eb1a699	bb0aa13f-91b1-49bb-ab18-78372bf5d8ff	g.chr20:34059927C>T	ENST00000397527.1	+	11	1721	c.1001C>T	c.(1000-1002)gCg>gTg	p.A334V	CEP250_ENST00000342580.4_Missense_Mutation_p.A334V	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	334					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AGTAGGAATGCGCAAGAGGAG	0.458													C|||	11	0.00219649	0.0083	0	5008	,	,		22059	0		0	False		,,,				2504	0					ENST00000397527.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1000-1002)gCg>gTg		centrosomal protein 250kDa		C	VAL/ALA	18,4388	25.3+/-52.1	0,18,2185	164	152	156		1001	3.3	1.0	20	dbSNP_132	156	0,8600		0,0,4300	yes	missense	CEP250	NM_007186.3	64	0,18,6485	TT,TC,CC		0.0,0.4085,0.1384	benign	334/2443	34059927	18,12988	2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34059927C>T	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.1001C>T	20.37:g.34059927C>T	ENSP00000380661:p.Ala334Val					CEP250_ENST00000342580.4_Missense_Mutation_p.A334V	p.A334V	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		11	1721	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		334					E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.1001C>T	CCDS13255.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	12.79	2.042872	0.36085	0.004085	0.0	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000425934	T;T;T	0.22743	2.89;2.93;1.94	5.2	3.28	0.37604	.	0.243812	0.28538	N	0.014981	T	0.09247	0.0228	L	0.33485	1.01	0.30007	N	0.815503	B	0.24483	0.104	B	0.17098	0.017	T	0.17471	-1.0368	10	0.18276	T	0.48	.	7.7179	0.28715	0.0:0.8121:0.0:0.1879	.	334	Q9BV73	CP250_HUMAN	V	334;334;333	ENSP00000380661:A334V;ENSP00000341541:A334V;ENSP00000413827:A333V	ENSP00000341541:A334V	A	+	2	0	CEP250	33523341	0.994000	0.37717	1.000000	0.80357	0.865000	0.49528	1.331000	0.33793	0.785000	0.33685	-0.140000	0.14226	GCG		0.458	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		5	212	0	0	0	1	0	5	212					T	34059927	C	T	34059927	3	4	477	1	0	0	0	0	1	0	0	0	3252	768	27	1	1031	1	CEP250	20	34059927	Missense_Mutation	SNP	C	TCGA-KS-A41I-01A-11D-A23M-08		34059927	28965593	16	9782											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	9	17	2	0	rs145580328		TCGA-KS-A41I-01A-11D-A23M-08	TCGA-KS-A41I-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2141ba0-087c-4982-afda-8e955eb1a699	bb0aa13f-91b1-49bb-ab18-78372bf5d8ff	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51	56	55					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		5	211	0	0	0	1	0	5	211					G	37028425	A	G	37028425	3	3	477	1	0	0	0	0	1	0	0	0	5571	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-KS-A41I-01A-11D-A23M-08		37028425	118242135	17	9783											
ABCD1	215	broad.mit.edu	37	chrX	152991422	152991422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccctgcttcgggcggcccGctcccgtggagccggcacag	14	18	0	0			TCGA-KS-A41I-01A-11D-A23M-08	TCGA-KS-A41I-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2141ba0-087c-4982-afda-8e955eb1a699	bb0aa13f-91b1-49bb-ab18-78372bf5d8ff	g.chrX:152991422G>A	ENST00000218104.3	+	1	1100	c.701G>A	c.(700-702)cGc>cAc	p.R234H	BCAP31_ENST00000458587.2_5'Flank|ABCD1_ENST00000370129.4_Missense_Mutation_p.R49H|BCAP31_ENST00000441714.1_5'Flank|BCAP31_ENST00000345046.6_5'Flank	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	234	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGGCGGCCCGCTCCCGTGGA	0.687																																						ENST00000218104.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18						c.(700-702)cGc>cAc		ATP-binding cassette, sub-family D (ALD), member 1							34	35	35					X																	152991422		2202	4298	6500	SO:0001583	missense	215				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity	g.chrX:152991422G>A	Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"ATP binding cassette transporters / subfamily D"	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.701G>A	X.37:g.152991422G>A	ENSP00000218104:p.Arg234His					ABCD1_ENST00000370129.4_Missense_Mutation_p.R49H	p.R234H	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN			1	1100	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		234			ABC transmembrane type-1.		Q6GTZ2	Missense_Mutation	SNP	ENST00000218104.3	37	c.701G>A	CCDS14728.1	.	.	.	.	.	.	.	.	.	.	G	10.64	1.407291	0.25378	.	.	ENSG00000101986	ENST00000218104;ENST00000370129	D;D	0.99637	-6.29;-6.29	5.37	5.37	0.77165	ABC transporter, N-terminal (1);ABC transporter, integral membrane type 1 (1);	0.235845	0.36268	N	0.002681	D	0.98292	0.9434	L	0.44542	1.39	0.31998	N	0.603684	B	0.24533	0.105	B	0.24155	0.051	D	0.99971	1.2011	10	0.56958	D	0.05	-26.9142	10.5686	0.45188	0.0921:0.0:0.9079:0.0	.	234	P33897	ABCD1_HUMAN	H	234;49	ENSP00000218104:R234H;ENSP00000359147:R49H	ENSP00000218104:R234H	R	+	2	0	ABCD1	152644616	0.432000	0.25554	0.978000	0.43139	0.258000	0.26162	2.828000	0.48120	2.247000	0.74100	0.529000	0.55759	CGC		0.687	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033		7	104	0	0	0	1	0	7	104					A	152991422	G	A	152991422	3	1	477	1	0	0	0	0	1	0	0	0	60	1087	38	1	703	1	ABCD1	23	152991422	Missense_Mutation	SNP	G	TCGA-KS-A41I-01A-11D-A23M-08	115962997	152991422	2279138	18	9784											
ZFP36L2	678	broad.mit.edu	37	chr2	43452123	43452123	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcagcagcggcgactcgaGgccgcccgggggctgatggt	19	12	0	1			TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr2:43452123G>A	ENST00000282388.3	-	2	1113	c.820C>T	c.(820-822)Ctc>Ttc	p.L274F	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	274					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GGCGACTCGAGGCCGCCCGGG	0.731																																						ENST00000282388.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15						c.(820-822)Ctc>Ttc		ZFP36 ring finger protein-like 2							13	23	20					2																	43452123		2167	4224	6391	SO:0001583	missense	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43452123G>A	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"RING-type (C3HC4) zinc fingers"	1108	protein-coding gene	gene with protein product		612053	"zinc finger protein 36, C3H type-like 1", "zinc finger protein 36, C3H type-like 2"	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.820C>T	2.37:g.43452123G>A	ENSP00000282388:p.Leu274Phe					THADA_ENST00000330266.7_Intron	p.L274F	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN			2	1113	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	274					Q53TB4|Q9BSJ3	Missense_Mutation	SNP	ENST00000282388.3	37	c.820C>T	CCDS1811.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921535	0.33908	.	.	ENSG00000152518	ENST00000282388	T	0.53423	0.62	3.91	2.04	0.26737	.	0.121256	0.32819	N	0.005613	T	0.42154	0.1190	L	0.27053	0.805	0.80722	D	1	D	0.54207	0.965	P	0.54100	0.742	T	0.18209	-1.0344	10	0.46703	T	0.11	-13.2704	7.2838	0.26326	0.094:0.0:0.7383:0.1677	.	274	P47974	TISD_HUMAN	F	274	ENSP00000282388:L274F	ENSP00000282388:L274F	L	-	1	0	ZFP36L2	43305627	1.000000	0.71417	0.986000	0.45419	0.036000	0.12997	4.707000	0.61852	0.231000	0.21079	-0.258000	0.10820	CTC		0.731	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		26	17	0	0	0	1	0	26	17					A	43452123	G	A	43452123	3	1	478	1	0	0	0	0	1	0	0	0	17644	1000	35	2	668	2	ZFP36L2	2	43452123	Missense_Mutation	SNP	G	TCGA-KS-A41J-01A-11D-A23M-08		43452123	199747250	1	9785											
ATP6V1B1	525	broad.mit.edu	37	chr2	71187160	71187160	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcatgaacagcattgcccgCggccagaagatccccatctt	9	14	2	3	rs545034098		TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr2:71187160C>T	ENST00000234396.4	+	6	610	c.537C>T	c.(535-537)cgC>cgT	p.R179R	ATP6V1B1_ENST00000412314.1_Silent_p.R179R|AC007040.11_ENST00000606025.1_Intron	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	179					ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)	p.R179R(1)		endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						GCATTGCCCGCGGCCAGAAGA	0.627																																						ENST00000234396.4																			1	Substitution - coding silent(1)	p.R179R(1)	endometrium(1)	endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						c.(535-537)cgC>cgT		ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1							67	64	65					2																	71187160		2203	4300	6503	SO:0001819	synonymous_variant	525				ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr2:71187160C>T	AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"ATPases / V-type"	853	protein-coding gene	gene with protein product	"Renal tubular acidosis with deafness"	192132	"vacuolar proton pump 3"	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.537C>T	2.37:g.71187160C>T						AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Silent_p.R179R	p.R179R	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN			6	610	+			179					Q53FY0|Q6P4H6	Silent	SNP	ENST00000234396.4	37	c.537C>T	CCDS1912.1																																																																																				0.627	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251920.2	NM_001692		27	55	0	0	0	1	0	27	55					T	71187160	C	T	71187160	2	4	478	1	0	0	0	0	0	0	0	1	1178	755	27	1		1	ATP6V1B1	2	71187160	Silent	SNP	C	TCGA-KS-A41J-01A-11D-A23M-08	27735037	71187160	172012213	2	9786											
DNAH1	25981	broad.mit.edu	37	chr3	52383001	52383001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctacgggccaccattgccaGtgccgtgtccaaggccatga	12	14	0	1	rs187636110	byFrequency	TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr3:52383001G>A	ENST00000420323.2	+	13	2465	c.2204G>A	c.(2203-2205)aGt>aAt	p.S735N		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	735	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACCATTGCCAGTGCCGTGTCC	0.577													G|||	4	0.000798722	0	0	5008	,	,		22244	0		0.004	False		,,,				2504	0					ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(2203-2205)aGt>aAt		dynein, axonemal, heavy chain 1		G	ASN/SER	4,4340		0,4,2168	126	131	129		2204	2.8	0.0	3		129	52,8498		1,50,4224	yes	missense	DNAH1	NM_015512.4	46	1,54,6392	AA,AG,GG		0.6082,0.0921,0.4343	benign	735/4266	52383001	56,12838	2172	4275	6447	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52383001G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.2204G>A	3.37:g.52383001G>A	ENSP00000401514:p.Ser735Asn						p.S735N	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	13	2465	+			735			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.2204G>A	CCDS46842.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	G	0.228	-1.023508	0.02061	9.21E-4	0.006082	ENSG00000114841	ENST00000420323	T	0.22539	1.95	5.24	2.83	0.33086	.	0.547984	0.16508	N	0.211344	T	0.03348	0.0097	N	0.00621	-1.32	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.40040	-0.9584	10	0.14252	T	0.57	.	5.7278	0.18022	0.561:0.2651:0.1739:0.0	.	735;735	C9JXH6;Q9P2D7-3	.;.	N	735	ENSP00000401514:S735N	ENSP00000401514:S735N	S	+	2	0	DNAH1	52358041	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	0.296000	0.19083	0.310000	0.22990	-0.302000	0.09304	AGT		0.577	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		4	87	0	0	0	1	0	4	87					A	52383001	G	A	52383001	3	1	478	1	0	0	0	0	1	0	0	0	4597	1029	36	2	2250	2	DNAH1	3	52383001	Missense_Mutation	SNP	G	TCGA-KS-A41J-01A-11D-A23M-08		52383001	145639429	3	9787											
BOC	91653	broad.mit.edu	37	chr3	112969645	112969645	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccggatgcctgcgggggCtgtggccagcgtgccagcca	18	14	0	0			TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr3:112969645C>T	ENST00000495514.1	+	4	1045	c.341C>T	c.(340-342)gCt>gTt	p.A114V	BOC_ENST00000484034.1_Missense_Mutation_p.A114V|BOC_ENST00000485230.1_Missense_Mutation_p.A114V|BOC_ENST00000273395.4_Missense_Mutation_p.A114V|BOC_ENST00000355385.3_Missense_Mutation_p.A114V			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	114	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CCTGCGGGGGCTGTGGCCAGC	0.637																																						ENST00000495514.1																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(340-342)gCt>gTt		BOC cell adhesion associated, oncogene regulated							46	46	46					3																	112969645		2203	4300	6503	SO:0001583	missense	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:112969645C>T	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17173	protein-coding gene	gene with protein product	"brother of CDO", "brother of CDON", "cell adhesion associated, oncogene regulated 2"	608708	"Boc homolog (mouse)"			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.341C>T	3.37:g.112969645C>T	ENSP00000418663:p.Ala114Val					BOC_ENST00000273395.4_Missense_Mutation_p.A114V|BOC_ENST00000485230.1_Missense_Mutation_p.A114V|BOC_ENST00000355385.3_Missense_Mutation_p.A114V|BOC_ENST00000484034.1_Missense_Mutation_p.A114V	p.A114V			Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		4	1045	+			114			Ig-like C2-type 1.		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	c.341C>T	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	c	20.7	4.031180	0.75504	.	.	ENSG00000144857	ENST00000495514;ENST00000485230;ENST00000273395;ENST00000355385;ENST00000484034	T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72	5.67	5.67	0.87782	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.063203	0.64402	D	0.000007	T	0.14184	0.0343	L	0.46157	1.445	0.42239	D	0.991923	B;B;P	0.41498	0.016;0.091;0.752	B;B;B	0.40659	0.049;0.19;0.336	T	0.02232	-1.1191	9	.	.	.	.	10.8392	0.46704	0.0:0.8858:0.0:0.1142	.	114;114;114	Q9BWV1-3;Q9BWV1;Q96DN7	.;BOC_HUMAN;.	V	114	ENSP00000418663:A114V;ENSP00000420154:A114V;ENSP00000273395:A114V;ENSP00000347546:A114V;ENSP00000417337:A114V	.	A	+	2	0	BOC	114452335	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.579000	0.67457	2.688000	0.91661	0.550000	0.68814	GCT		0.637	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		4	54	0	0	0	1	0	4	54					T	112969645	C	T	112969645	3	4	478	1	0	0	0	0	1	0	0	0	1481	797	28	2	347	2	BOC	3	112969645	Missense_Mutation	SNP	C	TCGA-KS-A41J-01A-11D-A23M-08	60586644	112969645	85052785	4	9788											
RGS12	6002	broad.mit.edu	37	chr4	3441340	3441340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcctacatcagacctcCctggcttgggccccgtcccg	10	19	1	1			TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr4:3441340C>T	ENST00000344733.5	+	18	5177	c.4273C>T	c.(4273-4275)Cct>Tct	p.P1425S	RGS12_ENST00000338806.4_Missense_Mutation_p.P777S|HGFAC_ENST00000511533.1_5'Flank|HGFAC_ENST00000382774.3_5'Flank	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1425					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATCAGACCTCCCTGGCTTGGG	0.692																																						ENST00000344733.5																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(4273-4275)Cct>Tct		regulator of G-protein signaling 12							25	23	24					4																	3441340		2200	4296	6496	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3441340C>T	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"Regulators of G-protein signaling"	9994	protein-coding gene	gene with protein product		602512	"regulator of G-protein signalling 12"			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.4273C>T	4.37:g.3441340C>T	ENSP00000339381:p.Pro1425Ser					RGS12_ENST00000338806.4_Missense_Mutation_p.P777S	p.P1425S	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	18	5177	+			1425					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.4273C>T	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.165122	0.57476	.	.	ENSG00000159788	ENST00000344733;ENST00000338806	T;T	0.64991	0.38;-0.13	3.18	3.18	0.36537	.	0.472738	0.16262	U	0.222217	T	0.64962	0.2646	N	0.24115	0.695	0.36167	D	0.848509	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.992	T	0.71632	-0.4534	10	0.87932	D	0	-12.4309	10.1175	0.42601	0.0:1.0:0.0:0.0	.	767;777;1425	O14924-2;O14924-3;O14924	.;.;RGS12_HUMAN	S	1425;777	ENSP00000339381:P1425S;ENSP00000342133:P777S	ENSP00000342133:P777S	P	+	1	0	RGS12	3411138	0.000000	0.05858	0.052000	0.19188	0.041000	0.13682	0.062000	0.14389	2.079000	0.62486	0.462000	0.41574	CCT		0.692	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		3	25	0	0	0	1	0	3	25					T	3441340	C	T	3441340	3	4	478	1	0	0	0	0	1	0	0	0	13295	623	22	2	4414	2	RGS12	4	3441340	Missense_Mutation	SNP	C	TCGA-KS-A41J-01A-11D-A23M-08		3441340	187712936	5	9789											
GRM6	2916	broad.mit.edu	37	chr5	178413693	178413693	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgctcccccggcccgcagGgcaggctgcacagagacgag	14	17	0	1			TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr5:178413693G>A	ENST00000517717.1	-	9	1600	c.1562C>T	c.(1561-1563)cCc>cTc	p.P521L	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.P521L			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	521					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|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)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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)	all cancers(165;0.245)		CGGCCCGCAGGGCAGGCTGCA	0.677																																						ENST00000231188.5																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(1561-1563)cCc>cTc		glutamate receptor, metabotropic 6							30	31	31					5																	178413693		2203	4295	6498	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178413693G>A	U82083	CCDS4442.1	5q35	2014-01-28						"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1562C>T	5.37:g.178413693G>A	ENSP00000430767:p.Pro521Leu					RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.P521L	p.P521L	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	8	1740	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	521						Missense_Mutation	SNP	ENST00000517717.1	37	c.1562C>T	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884748	0.72410	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.90324	-2.65;-2.65	4.63	4.63	0.57726	GPCR, family 3, nine cysteines domain (1);	.	.	.	.	D	0.95664	0.8590	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.992	D	0.96403	0.9298	9	0.87932	D	0	.	15.3541	0.74415	0.0:0.0:1.0:0.0	.	677;521	E7EX65;O15303	.;GRM6_HUMAN	L	677;521;521	ENSP00000231188:P521L;ENSP00000430767:P521L	ENSP00000231188:P521L	P	-	2	0	GRM6	178346299	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	9.661000	0.98601	2.281000	0.76405	0.462000	0.41574	CCC		0.677	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			4	73	0	0	0	1	0	4	73					A	178413693	G	A	178413693	3	1	478	1	0	0	0	0	1	0	0	0	6801	1232	43	2	1083	2	GRM6	5	178413693	Missense_Mutation	SNP	G	TCGA-KS-A41J-01A-11D-A23M-08		178413693	2501567	6	9790											
WBSCR27	155368	broad.mit.edu	37	chr7	73249155	73249155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatccttggcagagatgccGgataccacctccagctcgga	10	15	0	1	rs141298816		TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr7:73249155G>A	ENST00000297873.4	-	6	705	c.656C>T	c.(655-657)cCg>cTg	p.P219L		NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN	Williams Beuren syndrome chromosome region 27	219										NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				CAGAGATGCCGGATACCACCT	0.637													g|||	1	0.000199681	0	0	5008	,	,		15696	0		0.001	False		,,,				2504	0					ENST00000297873.4																			0				NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5						c.(655-657)cCg>cTg		Williams Beuren syndrome chromosome region 27		A	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	68	62	64		656	-6.9	0.0	7	dbSNP_134	64	19,8581	13.3+/-46.6	0,19,4281	yes	missense	WBSCR27	NM_152559.2	98	0,20,6483	AA,AG,GG		0.2209,0.0227,0.1538	benign	219/246	73249155	20,12986	2203	4300	6503	SO:0001583	missense	155368							g.chr7:73249155G>A	AF534110	CCDS5561.1	7q11.23	2004-07-05			ENSG00000165171	ENSG00000165171			19068	protein-coding gene	gene with protein product		612546					Standard	NM_152559		Approved		uc003tzj.2	Q8N6F8	OTTHUMG00000130033	ENST00000297873.4:c.656C>T	7.37:g.73249155G>A	ENSP00000297873:p.Pro219Leu						p.P219L	NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN			6	705	-		Lung NSC(55;0.159)	219						Missense_Mutation	SNP	ENST00000297873.4	37	c.656C>T	CCDS5561.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	0.679	-0.799002	0.02841	2.27E-4	0.002209	ENSG00000165171	ENST00000297873	T	0.58210	0.35	4.76	-6.87	0.01671	.	2.414770	0.01772	N	0.031227	T	0.28167	0.0695	N	0.14661	0.345	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.07366	-1.0776	10	0.30854	T	0.27	1.5246	1.813	0.03094	0.4394:0.2366:0.2045:0.1194	.	219	Q8N6F8	WBS27_HUMAN	L	219	ENSP00000297873:P219L	ENSP00000297873:P219L	P	-	2	0	WBSCR27	72887091	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-2.515000	0.00955	-1.772000	0.01292	-0.231000	0.12243	CCG		0.637	WBSCR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252312.1	NM_152559		4	93	0	0	0	1	0	4	93					A	73249155	G	A	73249155	3	1	478	1	0	0	0	0	1	0	0	0	17263	1116	39	1	85	1	WBSCR27	7	73249155	Missense_Mutation	SNP	G	TCGA-KS-A41J-01A-11D-A23M-08		73249155	85889508	7	9791											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		35	42	0	0	0	1	0	35	42					T	140453136	A	T	140453136	3	4	478	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-KS-A41J-01A-11D-A23M-08	67203981	140453136	18685527	8	9792											
KIF12	113220	broad.mit.edu	37	chr9	116854714	116854714	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgccaggactcgggtctgaGtccagtcactgtgactcctg	12	13	2	2	rs147277754	byFrequency	TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr9:116854714G>C	ENST00000374118.3	-	15	1538	c.1301C>G	c.(1300-1302)aCt>aGt	p.T434S	KIF12_ENST00000473174.1_5'Flank	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	567					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						TCGGGTCTGAGTCCAGTCACT	0.617													G|||	6	0.00119808	0.0015	0	5008	,	,		15604	0		0.004	False		,,,				2504	0					ENST00000374118.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(1300-1302)aCt>aGt		kinesin family member 12		G	SER/THR	2,4404	4.2+/-10.8	0,2,2201	61	59	59		1301	-2.2	0.3	9	dbSNP_134	59	15,8585	11.2+/-40.8	0,15,4285	yes	missense	KIF12	NM_138424.1	58	0,17,6486	CC,CG,GG		0.1744,0.0454,0.1307	benign	434/514	116854714	17,12989	2203	4300	6503	SO:0001583	missense	113220				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:116854714G>C	BC010626	CCDS6801.1	9q33.1	2008-02-05			ENSG00000136883	ENSG00000136883		"Kinesins"	21495	protein-coding gene	gene with protein product		611278					Standard	NM_138424		Approved		uc004bif.3	Q96FN5	OTTHUMG00000020533	ENST00000374118.3:c.1301C>G	9.37:g.116854714G>C	ENSP00000363232:p.Thr434Ser						p.T434S	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN			15	1538	-			567					Q5TBE0	Missense_Mutation	SNP	ENST00000374118.3	37	c.1301C>G	CCDS6801.1	5	0.0022893772893772895	1	0.0020325203252032522	0	0.0	0	0.0	4	0.005277044854881266	G	10.27	1.303703	0.23736	4.54E-4	0.001744	ENSG00000136883	ENST00000374118;ENST00000259410	T	0.74209	-0.82	4.68	-2.17	0.07059	.	0.691383	0.13444	N	0.387449	T	0.41190	0.1148	N	0.17082	0.46	0.20563	N	0.999888	B	0.27498	0.18	B	0.30029	0.11	T	0.33548	-0.9864	10	0.13108	T	0.6	.	4.3599	0.11197	0.4616:0.0:0.3832:0.1552	.	567	Q96FN5	KIF12_HUMAN	S	434;567	ENSP00000363232:T434S	ENSP00000259410:T567S	T	-	2	0	KIF12	115894535	0.003000	0.15002	0.291000	0.24904	0.903000	0.53119	0.019000	0.13444	-0.192000	0.10432	0.563000	0.77884	ACT		0.617	KIF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053751.1	NM_138424		5	79	0	0	0	1	0	5	79					C	116854714	G	C	116854714	3	2	478	1	0	0	0	0	1	0	0	0	8273	1029	36	4	248	4	KIF12	9	116854714	Missense_Mutation	SNP	G	TCGA-KS-A41J-01A-11D-A23M-08		116854714	24358717	9	9793											
CHST1	8534	broad.mit.edu	37	chr11	45671241	45671241	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cacccgcaccgcccgggtcaCgagaaggggcggaagtcccg	15	16	1	1	rs7115779	byFrequency	TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr11:45671241C>G	ENST00000308064.2	-	4	1903	c.1233G>C	c.(1231-1233)tcG>tcC	p.S411S	CHST1_ENST00000533673.1_5'Flank|RP11-495O11.1_ENST00000525563.1_RNA	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	411					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GCCCGGGTCACGAGAAGGGGC	0.627													C|||	12	0.00239617	0	0.0014	5008	,	,		14438	0		0.007	False		,,,				2504	0.0041					ENST00000308064.2																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42						c.(1231-1233)tcG>tcC		carbohydrate (keratan sulfate Gal-6) sulfotransferase 1		C		5,4395		0,5,2195	32	40	38		1233	4.4	1.0	11	dbSNP_116	38	30,8532		0,30,4251	yes	coding-synonymous	CHST1	NM_003654.5		0,35,6446	GG,GC,CC		0.3504,0.1136,0.27		411/412	45671241	35,12927	2200	4281	6481	SO:0001819	synonymous_variant	8534				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	g.chr11:45671241C>G	U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"Sulfotransferases, membrane-bound"	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.1233G>C	11.37:g.45671241C>G							p.S411S	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN		GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)	4	1903	-			411					D3DQP2	Silent	SNP	ENST00000308064.2	37	c.1233G>C	CCDS7913.1																																																																																				0.627	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390127.1	NM_003654		6	151	0	0	0	1	0	6	151					G	45671241	C	G	45671241	2	3	478	1	0	0	0	0	0	0	0	1	3397	523	19	4		4	CHST1	11	45671241	Silent	SNP	C	TCGA-KS-A41J-01A-11D-A23M-08		45671241	89335275	10	9794											
OR5T2	219464	broad.mit.edu	37	chr11	56000210	56000210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccattgcagccaagagaaagCattctgtggttccaaaacta	8	10	1	1			TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr11:56000210C>T	ENST00000313264.4	-	1	527	c.452G>A	c.(451-453)tGc>tAc	p.C151Y		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					CAAGAGAAAGCATTCTGTGGT	0.418																																						ENST00000313264.4																			0				endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41						c.(451-453)tGc>tAc		olfactory receptor, family 5, subfamily T, member 2							180	154	162					11																	56000210		2201	4296	6497	SO:0001583	missense	219464				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56000210C>T	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"GPCR / Class A : Olfactory receptors"	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.452G>A	11.37:g.56000210C>T	ENSP00000323688:p.Cys151Tyr						p.C151Y	NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN			1	527	-	Esophageal squamous(21;0.00448)		151					B9EGX5|Q6IFC8	Missense_Mutation	SNP	ENST00000313264.4	37	c.452G>A	CCDS31523.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.483679	0.44147	.	.	ENSG00000181718	ENST00000313264	T	0.01685	4.69	5.07	4.15	0.48705	GPCR, rhodopsin-like superfamily (1);	0.150362	0.30930	U	0.008599	T	0.09468	0.0233	M	0.82132	2.575	0.09310	N	1	D	0.76494	0.999	D	0.72338	0.977	T	0.02596	-1.1136	10	0.56958	D	0.05	.	11.368	0.49684	0.0:0.8461:0.0:0.1539	.	151	Q8NGG2	OR5T2_HUMAN	Y	151	ENSP00000323688:C151Y	ENSP00000323688:C151Y	C	-	2	0	OR5T2	55756786	0.000000	0.05858	0.963000	0.40424	0.706000	0.40770	0.024000	0.13555	1.267000	0.44247	0.471000	0.43371	TGC		0.418	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		59	85	0	0	0	1	0	59	85					T	56000210	C	T	56000210	3	4	478	1	0	0	0	0	1	0	0	0	11182	710	25	2	626	2	OR5T2	11	56000210	Missense_Mutation	SNP	C	TCGA-KS-A41J-01A-11D-A23M-08	10328969	56000210	79006306	11	9795											
FBXL14	144699	broad.mit.edu	37	chr12	1703090	1703090	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtgcagcttggcctccAccccccgccacaccgacttg	10	19	0	0			TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr12:1703090A>C	ENST00000339235.3	-	1	241	c.143T>G	c.(142-144)gTg>gGg	p.V48G	WNT5B_ENST00000537031.1_Intron|FBXL14_ENST00000543278.1_5'Flank	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	48	F-box.|Required for down-regulation of SNAI1.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			CTTGGCCTCCACCCCCCGCCA	0.731																																						ENST00000339235.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8						c.(142-144)gTg>gGg		F-box and leucine-rich repeat protein 14							7	9	8					12																	1703090		2147	4245	6392	SO:0001583	missense	144699					cytoplasm		g.chr12:1703090A>C	BC028132	CCDS8509.1	12p13.33	2011-06-09			ENSG00000171823	ENSG00000171823		"F-boxes / Leucine-rich repeats"	28624	protein-coding gene	gene with protein product		609081				12477932	Standard	NM_152441		Approved	MGC40195, Fbl14	uc001qjh.3	Q8N1E6	OTTHUMG00000090369	ENST00000339235.3:c.143T>G	12.37:g.1703090A>C	ENSP00000344855:p.Val48Gly					WNT5B_ENST00000537031.1_Intron	p.V48G	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00115)		1	241	-	Ovarian(42;0.107)		48			F-box.|Required for down-regulation of SNAI1.			Missense_Mutation	SNP	ENST00000339235.3	37	c.143T>G	CCDS8509.1	.	.	.	.	.	.	.	.	.	.	A	16.95	3.263601	0.59431	.	.	ENSG00000171823	ENST00000339235	T	0.56776	0.44	4.03	4.03	0.46877	F-box domain, cyclin-like (1);	0.155201	0.43260	D	0.000588	T	0.74913	0.3779	M	0.93678	3.445	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.78001	-0.2375	10	0.87932	D	0	.	6.3942	0.21603	0.8088:0.0:0.1912:0.0	.	48	Q8N1E6	FXL14_HUMAN	G	48	ENSP00000344855:V48G	ENSP00000344855:V48G	V	-	2	0	FBXL14	1573351	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.648000	0.83479	1.684000	0.51022	0.254000	0.18369	GTG		0.731	FBXL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206741.1	NM_152441		4	9	0	0	0	1	0	4	9					C	1703090	A	C	1703090	3	2	478	1	0	0	0	0	1	0	0	0	5710	159	6	5	1121	5	FBXL14	12	1703090	Missense_Mutation	SNP	A	TCGA-KS-A41J-01A-11D-A23M-08		1703090	132148805	12	9796											
LRP1	4035	broad.mit.edu	37	chr12	57579590	57579590	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgactaccgggcaggcaCctctccgggcacccccaatc	9	18	1	1	rs140707279	byFrequency	TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr12:57579590C>T	ENST00000243077.3	+	41	7206	c.6740C>T	c.(6739-6741)aCc>aTc	p.T2247I		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2247					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)	CGGGCAGGCACCTCTCCGGGC	0.582													C|||	2	0.000399361	0	0	5008	,	,		18297	0.001		0.001	False		,,,				2504	0					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.(6739-6741)aCc>aTc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						109	101	104					12																	57579590		2203	4300	6503	SO:0001583	missense	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.chr12:57579590C>T	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.6740C>T	12.37:g.57579590C>T	ENSP00000243077:p.Thr2247Ile						p.T2247I	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	41	7206	+			2247					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.6740C>T	CCDS8932.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	21.0	4.089741	0.76756	.	.	ENSG00000123384	ENST00000243077	D	0.90133	-2.62	5.03	4.12	0.48240	Six-bladed beta-propeller, TolB-like (1);	0.165528	0.40908	D	0.000984	T	0.79015	0.4375	N	0.08118	0	0.80722	D	1	B	0.18461	0.028	B	0.14578	0.011	T	0.73827	-0.3860	10	0.25106	T	0.35	.	11.4033	0.49883	0.0:0.5962:0.4038:0.0	.	2247	Q07954	LRP1_HUMAN	I	2247	ENSP00000243077:T2247I	ENSP00000243077:T2247I	T	+	2	0	LRP1	55865857	0.999000	0.42202	1.000000	0.80357	0.972000	0.66771	2.735000	0.47377	2.340000	0.79590	0.491000	0.48974	ACC		0.582	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		4	78	0	0	0	1	0	4	78					T	57579590	C	T	57579590	3	4	478	1	0	0	0	0	1	0	0	0	8951	507	18	2	6902	2	LRP1	12	57579590	Missense_Mutation	SNP	C	TCGA-KS-A41J-01A-11D-A23M-08	55876500	57579590	76272305	13	9797											
RTEL1	51750	broad.mit.edu	37	chr20	62324223	62324223	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atggtggccgtgaagcaggaGttgagccaagccaactttgc	14	9	0	2			TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr20:62324223G>T	ENST00000360203.5	+	29	3043	c.2718G>T	c.(2716-2718)gaG>gaT	p.E906D	RTEL1_ENST00000370003.1_Missense_Mutation_p.E151D|RTEL1_ENST00000370018.3_Missense_Mutation_p.E906D|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.E906D|RTEL1_ENST00000508582.2_Missense_Mutation_p.E930D|RTEL1_ENST00000318100.4_Missense_Mutation_p.E906D					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)			TGAAGCAGGAGTTGAGCCAAG	0.647																																						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.(2716-2718)gaG>gaT		regulator of telomere elongation helicase 1							99	92	95					20																	62324223		2199	4294	6493	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.chr20:62324223G>T	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.2718G>T	20.37:g.62324223G>T	ENSP00000353332:p.Glu906Asp					RTEL1_ENST00000370003.1_Missense_Mutation_p.E151D|RTEL1_ENST00000370018.3_Missense_Mutation_p.E906D|RTEL1_ENST00000360203.5_Missense_Mutation_p.E906D|RTEL1_ENST00000508582.2_Missense_Mutation_p.E930D|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.E906D	p.E906D			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)		29	3545	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		906						Missense_Mutation	SNP	ENST00000360203.5	37	c.2718G>T		.	.	.	.	.	.	.	.	.	.	G	5.304	0.241465	0.10077	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000370003	T;T;T;T;T	0.10860	2.83;2.83;2.83;2.83;2.83	4.59	-9.18	0.00688	.	0.256722	0.39210	N	0.001425	T	0.05364	0.0142	N	0.22421	0.69	0.09310	N	0.999997	B;P;B;B	0.43662	0.114;0.814;0.018;0.057	B;P;B;B	0.45195	0.089;0.473;0.039;0.159	T	0.28332	-1.0047	10	0.25106	T	0.35	-7.4568	5.1583	0.15046	0.5074:0.2625:0.1645:0.0656	.	930;151;906;906	Q9NZ71-7;Q9NZ71-5;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	D	906;906;930;906;151	ENSP00000359035:E906D;ENSP00000322287:E906D;ENSP00000424307:E930D;ENSP00000353332:E906D;ENSP00000359020:E151D	ENSP00000353332:E906D	E	+	3	2	AL353715.1	61794667	0.000000	0.05858	0.070000	0.20053	0.171000	0.22731	-2.086000	0.01361	-3.881000	0.00095	-1.744000	0.00683	GAG		0.647	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		6	151	1	0	2.0095e-06	1	2.18174e-06	6	151					T	62324223	G	T	62324223	3	4	478	1	0	0	0	0	1	0	0	0	13720	1020	36	4	2828	4	RTEL1	20	62324223	Missense_Mutation	SNP	G	TCGA-KS-A41J-01A-11D-A23M-08		62324223	701297	14	9798											
ARHGAP8	23779	broad.mit.edu	37	chr22	45244819	45244819	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgtgtgtgcagggaagccCgtgaactttgacgactacgg	15	8	0	2	rs202116130	byFrequency	TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr22:45244819C>T	ENST00000389774.2	+	11	990	c.849C>T	c.(847-849)ccC>ccT	p.P283P	ARHGAP8_ENST00000356099.6_Silent_p.P252P|ARHGAP8_ENST00000336963.4_Silent_p.P252P|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.P383P|ARHGAP8_ENST00000389773.5_Silent_p.P374P|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.P462P|ARHGAP8_ENST00000517296.3_Silent_p.P462P	NM_001017526.1	NP_001017526.1	P85298	RHG08_HUMAN	Rho GTPase activating protein 8	283	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		CAGGGAAGCCCGTGAACTTTG	0.617													C|||	2	0.000399361	0	0.0029	5008	,	,		18545	0		0	False		,,,				2504	0					ENST00000352766.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						c.(1384-1386)ccC>ccT									186	141	156					22																	45244819		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr22:45244819C>T	AF177331	CCDS14060.2, CCDS33664.1, CCDS56233.1	22q13.3	2010-05-11			ENSG00000241484	ENSG00000241484		"Rho GTPase activating proteins"	677	protein-coding gene	gene with protein product		609405				10591208	Standard	NM_001198726		Approved	FLJ20185, BPGAP1		P85298	OTTHUMG00000030234	ENST00000389774.2:c.849C>T	22.37:g.45244819C>T						ARHGAP8_ENST00000517296.3_Silent_p.P462P|ARHGAP8_ENST00000336963.4_Silent_p.P252P|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.P383P|ARHGAP8_ENST00000356099.6_Silent_p.P252P|ARHGAP8_ENST00000389774.2_Silent_p.P283P|ARHGAP8_ENST00000389773.5_Silent_p.P374P	p.P462P							15	1386	+								A6ZJ79|A6ZJ80|O75983|O95695|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Silent	SNP	ENST00000389774.2	37	c.1386C>T	CCDS33664.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	4.751	0.139675	0.09083	.	.	ENSG00000248405	ENST00000515632	T	0.18174	2.23	3.84	-4.52	0.03472	.	0.000000	0.34879	U	0.003618	T	0.19967	0.0480	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.07083	-1.0791	7	0.62326	D	0.03	.	6.2884	0.21047	0.0:0.3099:0.1395:0.5506	.	.	.	.	L	306	ENSP00000425026:P306L	ENSP00000425026:P306L	P	+	2	0	PRR5-ARHGAP8	43623483	0.000000	0.05858	0.984000	0.44739	0.498000	0.33706	-3.101000	0.00604	-0.690000	0.05142	-1.520000	0.00934	CCG		0.617	ARHGAP8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075088.4	NM_017701		66	97	0	0	0	1	0	66	97					T	45244819	C	T	45244819	2	4	478	1	0	0	0	0	0	0	0	1	888	639	23	1		1	ARHGAP8	22	45244819	Silent	SNP	C	TCGA-KS-A41J-01A-11D-A23M-08		45244819	6059747	15	9799											
HDAC10	83933	broad.mit.edu	37	chr22	50686833	50686833	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccctgacaggggtggggcCgggtcacccagcagcgtctg	18	13	2	1			TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr22:50686833C>T	ENST00000216271.5	-	11	1327	c.975G>A	c.(973-975)ccG>ccA	p.P325P	HDAC10_ENST00000498366.1_5'UTR|HDAC10_ENST00000349505.4_Silent_p.P305P|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000448072.1_Silent_p.P275P	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	325					chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|oligodendrocyte development (GO:0014003)|protein deacetylation (GO:0006476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|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)|protein deacetylase activity (GO:0033558)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGGGTGGGGCCGGGTCACCCA	0.657																																						ENST00000216271.5																			0				endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8						c.(973-975)ccG>ccA		histone deacetylase 10							38	40	39					22																	50686833		2201	4300	6501	SO:0001819	synonymous_variant	83933				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|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)	g.chr22:50686833C>T	AF393962	CCDS14088.1, CCDS54545.1	22q13.31	2008-06-10			ENSG00000100429	ENSG00000100429			18128	protein-coding gene	gene with protein product		608544				11677242, 11726666	Standard	NM_032019		Approved	DKFZP761B039	uc003bkg.3	Q969S8	OTTHUMG00000044647	ENST00000216271.5:c.975G>A	22.37:g.50686833C>T						MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000448072.1_Silent_p.P275P|HDAC10_ENST00000349505.4_Silent_p.P305P|HDAC10_ENST00000498366.1_5'UTR	p.P325P	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	11	1327	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	325					Q08AP4|Q6STF9|Q96P77|Q96P78|Q9H028|Q9UGX1|Q9UGX2	Silent	SNP	ENST00000216271.5	37	c.975G>A	CCDS14088.1																																																																																				0.657	HDAC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104141.4	NM_032019		8	52	0	0	0	1	0	8	52					T	50686833	C	T	50686833	2	4	478	1	0	0	0	0	0	0	0	1	7005	639	23	1		1	HDAC10	22	50686833	Silent	SNP	C	TCGA-KS-A41J-01A-11D-A23M-08	5442014	50686833	617733	16	9800											
RLIM	51132	broad.mit.edu	37	chrX	73811938	73811938	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtcattatctgccttaacatGgtctgaattgcaacagatgt	8	8	3	2	rs61754468		TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					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)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			6	Substitution - coding silent(6)	p.T404T(6)	lung(3)|urinary_tract(1)|kidney(1)|endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1210-1212)acC>acG		ring finger protein, LIM domain interacting							102	92	95					X																	73811938		2203	4300	6503	SO:0001819	synonymous_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811938G>C	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"RING-type (C3HC4) zinc fingers"	13429	protein-coding gene	gene with protein product	"ring zinc finger protein NY-REN-43antigen", "LIM domain interacting ring finger protein"	300379	"ring finger protein 12"	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1212C>G	X.37:g.73811938G>C						RLIM_ENST00000349225.2_Silent_p.T404T	p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1430	-			404					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.1212C>G	CCDS14427.1																																																																																				0.413	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		7	141	0	0	0	1	0	7	141					C	73811938	G	C	73811938	2	2	478	1	0	0	0	0	0	0	0	1	13390	1335	47	4		4	RLIM	23	73811938	Silent	SNP	G	TCGA-KS-A41J-01A-11D-A23M-08		73811938	81458622	17	9801											
CLCNKB	1188	broad.mit.edu	37	chr1	16378296	16378296	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcaccaatcccatcatgccAggggggtatgctctggcagg	12	12	3	0	rs199755248		TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr1:16378296A>C	ENST00000375679.4	+	14	1500	c.1389A>C	c.(1387-1389)ccA>ccC	p.P463P	CLCNKB_ENST00000375667.3_Silent_p.P294P	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	463					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CCATCATGCCAGGGGGGTATG	0.622													C|||	1	0.000199681	0	0	5008	,	,		18264	0.001		0	False		,,,				2504	0					ENST00000375679.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21	GRCh37	CD004305	CLCNKB	D		c.(1387-1389)ccA>ccC		chloride channel, voltage-sensitive Kb							66	66	66					1																	16378296		2203	4300	6503	SO:0001819	synonymous_variant	1188							g.chr1:16378296A>C	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"Ion channels / Chloride channels : Voltage-sensitive"	2027	protein-coding gene	gene with protein product		602023	"chloride channel Kb"				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.1389A>C	1.37:g.16378296A>C						CLCNKB_ENST00000375667.3_Silent_p.P294P	p.P463P	NM_000085.4	NP_000076.2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	14	1500	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)						B3KUY3|Q5T5Q7|Q5T5Q8	Silent	SNP	ENST00000375679.4	37	c.1389A>C	CCDS168.1																																																																																				0.622	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		5	102	0	0	0	1	0	5	102					C	16378296	A	C	16378296	2	2	479	1	0	0	0	0	0	0	0	1	3470	175	7	5		5	CLCNKB	1	16378296	Silent	SNP	A	TCGA-KS-A41L-01A-11D-A23M-08		16378296	232872325	1	9802											
PGM1	5236	broad.mit.edu	37	chr1	64114306	64114306	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcattggcaaaagtatggCcggaatttcttcaccaggtg	11	8	3	0			TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr1:64114306C>T	ENST00000371084.3	+	8	1476	c.1263C>T	c.(1261-1263)ggC>ggT	p.G421G	PGM1_ENST00000371083.4_Silent_p.G439G|PGM1_ENST00000540265.1_Silent_p.G224G	NM_002633.2	NP_002624.2	P36871	PGM1_HUMAN	phosphoglucomutase 1	421					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AAAAGTATGGCCGGAATTTCT	0.547																																						ENST00000371083.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1315-1317)ggC>ggT		phosphoglucomutase 1							81	78	79					1																	64114306		2203	4300	6503	SO:0001819	synonymous_variant	5236				cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity	g.chr1:64114306C>T	BC019920	CCDS625.1, CCDS53323.1, CCDS53324.1	1p22.1	2012-10-02			ENSG00000079739	ENSG00000079739	5.4.2.2		8905	protein-coding gene	gene with protein product		171900				4517931, 1530890	Standard	NM_002633		Approved		uc010ooz.2	P36871	OTTHUMG00000008968	ENST00000371084.3:c.1263C>T	1.37:g.64114306C>T						PGM1_ENST00000540265.1_Silent_p.G224G|PGM1_ENST00000371084.3_Silent_p.G421G	p.G439G	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN			8	1685	+			421					B2R5N9|B4DPV0|Q16105|Q16106|Q5BKZ9|Q6NW22|Q86U74|Q96J40|Q9NTY4	Silent	SNP	ENST00000371084.3	37	c.1317C>T	CCDS625.1																																																																																				0.547	PGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024868.1	NM_002633		32	45	0	0	0	1	0	32	45					T	64114306	C	T	64114306	2	4	479	1	0	0	0	0	0	0	0	1	11797	726	26	2		2	PGM1	1	64114306	Silent	SNP	C	TCGA-KS-A41L-01A-11D-A23M-08	47736010	64114306	185136315	2	9803											
XIRP2	129446	broad.mit.edu	37	chr2	168104097	168104097	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggagacaaaacgggtgtctgGactgatactacaggagaaca	13	7	1	3			TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr2:168104097G>T	ENST00000409195.1	+	9	6284	c.6195G>T	c.(6193-6195)tgG>tgT	p.W2065C	XIRP2_ENST00000295237.9_Missense_Mutation_p.W2065C|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.W1843C|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1890					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						CGGGTGTCTGGACTGATACTA	0.358																																						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.(6193-6195)tgG>tgT		xin actin-binding repeat containing 2							72	65	67					2																	168104097		1880	4118	5998	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168104097G>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.6195G>T	2.37:g.168104097G>T	ENSP00000386840:p.Trp2065Cys					XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.W2065C|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.W1843C|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron	p.W2065C	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	6284	+			1890					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.6195G>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.803042	0.31869	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.21361	2.01;2.01;2.01	5.83	3.68	0.42216	.	1.157800	0.06101	N	0.665454	T	0.32585	0.0834	L	0.51422	1.61	0.09310	N	0.999992	D;D;D	0.63880	0.973;0.993;0.984	B;P;P	0.53360	0.43;0.724;0.724	T	0.14839	-1.0458	10	0.66056	D	0.02	3.0328	8.0674	0.30669	0.1223:0.0:0.7206:0.157	.	1890;1890;1843	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	C	2065;2065;1843	ENSP00000386840:W2065C;ENSP00000295237:W2065C;ENSP00000387255:W1843C	ENSP00000295237:W2065C	W	+	3	0	XIRP2	167812343	0.000000	0.05858	0.477000	0.27303	0.525000	0.34531	0.350000	0.20079	1.447000	0.47661	0.650000	0.86243	TGG		0.358	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		4	60	1	0	1.23904e-05	1	1.48685e-05	4	60					T	168104097	G	T	168104097	3	4	479	1	0	0	0	0	1	0	0	0	17427	1183	41	4	6225	4	XIRP2	2	168104097	Missense_Mutation	SNP	G	TCGA-KS-A41L-01A-11D-A23M-08		168104097	75095276	3	9804											
HOXD12	3238	broad.mit.edu	37	chr2	176964709	176964709	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgcccgcctcctgcgccccCgcgcagcctgcgggcgccac	12	23	0	0	rs374059269		TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr2:176964709C>A	ENST00000406506.2	+	1	252	c.180C>A	c.(178-180)ccC>ccA	p.P60P	HOXD12_ENST00000404162.2_Silent_p.P60P			P35452	HXD12_HUMAN	homeobox D12	60					embryonic digit morphogenesis (GO:0042733)|pattern specification process (GO:0007389)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CCTGCGCCCCCGCGCAGCCTG	0.751																																						ENST00000406506.2																			0				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10						c.(178-180)ccC>ccA		homeobox D12							7	8	8					2																	176964709		1539	3471	5010	SO:0001819	synonymous_variant	3238					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176964709C>A		CCDS46456.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170178	ENSG00000170178		"Homeoboxes / ANTP class : HOXL subclass"	5135	protein-coding gene	gene with protein product		142988	"homeo box D12"	HOX4H		1675198, 1973146	Standard	NM_021193		Approved		uc010zev.1	P35452	OTTHUMG00000150358	ENST00000406506.2:c.180C>A	2.37:g.176964709C>A						HOXD12_ENST00000404162.2_Silent_p.P60P	p.P60P			P35452	HXD12_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)	1	252	+			60					B5MCP0|Q0VAD7|Q0VAD8|Q9NS03	Silent	SNP	ENST00000406506.2	37	c.180C>A	CCDS46456.1																																																																																				0.751	HOXD12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359253.2	NM_021193		3	45	1	0	0.014758	1	0.0163115	3	45					A	176964709	C	A	176964709	2	1	479	1	0	0	0	0	0	0	0	1	7321	639	23	4		4	HOXD12	2	176964709	Silent	SNP	C	TCGA-KS-A41L-01A-11D-A23M-08	8860612	176964709	66234664	4	9805											
ZFYVE20	64145	broad.mit.edu	37	chr3	15115677	15115677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattgtactctttcaggatgCgggctgaagggtctaaggaa	14	6	3	1	rs147577833	byFrequency	TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr3:15115677C>T	ENST00000253699.3	-	14	2580	c.1967G>A	c.(1966-1968)cGc>cAc	p.R656H	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.R656H	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	656	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						TTTCAGGATGCGGGCTGAAGG	0.562																																						ENST00000253699.3																			0				NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						c.(1966-1968)cGc>cAc		zinc finger, FYVE domain containing 20							121	122	122					3																	15115677		2203	4300	6503	SO:0001583	missense	64145				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chr3:15115677C>T	AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"Zinc fingers, FYVE domain containing"	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.1967G>A	3.37:g.15115677C>T	ENSP00000253699:p.Arg656His					ZFYVE20_ENST00000476527.2_Missense_Mutation_p.R656H	p.R656H	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN			14	2580	-			656			Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A.		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	ENST00000253699.3	37	c.1967G>A	CCDS2623.1	.	.	.	.	.	.	.	.	.	.	C	5.732	0.319588	0.10845	.	.	ENSG00000131381	ENST00000253699;ENST00000476527	T;T	0.52295	0.67;0.67	4.97	-9.08	0.00720	.	1.531570	0.03231	N	0.178906	T	0.20820	0.0501	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15925	-1.0420	10	0.28530	T	0.3	3.7456	8.903	0.35505	0.0:0.3211:0.1356:0.5433	.	656	Q9H1K0	RBNS5_HUMAN	H	656	ENSP00000253699:R656H;ENSP00000422551:R656H	ENSP00000253699:R656H	R	-	2	0	ZFYVE20	15090681	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-2.083000	0.00867	-1.405000	0.01134	CGC		0.562	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340		4	245	0	0	0	1	0	4	245					T	15115677	C	T	15115677	3	4	479	1	0	0	0	0	1	0	0	0	17663	768	27	1	391	1	ZFYVE20	3	15115677	Missense_Mutation	SNP	C	TCGA-KS-A41L-01A-11D-A23M-08		15115677	182906753	5	9806											
SATB1	6304	broad.mit.edu	37	chr3	18391133	18391135	+	In_Frame_Del	DEL	CTG	CTG	-													ggctgtggaggcggcggtgcCtgctgctgctgctgctgctg							TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr3:18391133_18391135delCTG	ENST00000338745.6	-	11	3553_3555	c.1819_1821delCAG	c.(1819-1821)cagdel	p.Q607del	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_In_Frame_Del_p.Q639del|SATB1_ENST00000454909.2_In_Frame_Del_p.Q607del	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	607	Poly-Gln.				activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GCGGCGGTGCctgctgctgctgc	0.606																																						ENST00000338745.6																			0				NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(1819-1821)del		SATB homeobox 1			,,	7,190,3727		2,0,3,5,180,1772					,,	-1.4	0.0			13	18,388,7346		2,0,14,7,374,3479	no	codingComplex,codingComplex,codingComplex	SATB1	NM_002971.4,NM_001195470.1,NM_001131010.2	,,	4,0,17,12,554,5251	A1A1,A1A2,A1R,A2A2,A2R,RR		5.2374,5.0204,5.1644	,,	,,		25,578,11073				SO:0001651	inframe_deletion	6304				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding	g.chr3:18391133_18391135delCTG		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"Homeoboxes / CUT class"	10541	protein-coding gene	gene with protein product		602075	"special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.1819_1821delCAG	3.37:g.18391142_18391144delCTG	ENSP00000341024:p.Gln607del					TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_In_Frame_Del_p.Q607del|SATB1_ENST00000417717.2_In_Frame_Del_p.Q639del	p.Q607del	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN			11	3553_3555	-			607			Poly-Gln.		B3KXF1|C9JTR6|Q59EQ0	In_Frame_Del	DEL	ENST00000338745.6	37	c.1819_1821delCAG	CCDS2631.1																																																																																				0.606	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		8	38						8	38	---	---	---	---	-	18391135	CTG	-	18391133	7	5	479	1	0	1	0	1	0	0	0	0	13853	680	24	0	474	0	SATB1	3	18391133	In_Frame_Del	DEL	CTG	TCGA-KS-A41L-01A-11D-A23M-08	3275456	18391133	179631297	6	9807											
PDS5A	23244	broad.mit.edu	37	chr4	39899982	39899982	+	Frame_Shift_Del	DEL	A	A	-													ttctgtaagtaaagctagagAaaaagtgtgaagtatgattt							TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr4:39899982delA	ENST00000503396.1	-	16	2336	c.1797delT	c.(1795-1797)tttfs	p.F599fs	PDS5A_ENST00000303538.8_Intron	NM_001100400.1	NP_001093870.1			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						AAAGCTAGAGAAAAAGTGTGA	0.323																																						ENST00000503396.1																			0				breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						c.(1795-1797)ttfs		PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)							38	36	37					4																	39899982		1822	4064	5886	SO:0001589	frameshift_variant	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39899982delA	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	ENST00000503396.1:c.1797delT	4.37:g.39899982delA	ENSP00000426749:p.Phe599fs					PDS5A_ENST00000303538.8_Intron	p.F599fs	NM_001100400.1	NP_001093870.1	Q29RF7	PDS5A_HUMAN			16	2336	-			0						Frame_Shift_Del	DEL	ENST00000503396.1	37	c.1797delT	CCDS54759.1																																																																																				0.323	PDS5A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361289.1	NM_015200		2	4						2	4	---	---	---	---	-	39899982	A	-	39899982	7	5	479	1	0	1	0	1	0	0	0	0	11691	243	9	0	2321	0	PDS5A	4	39899982	Frame_Shift_Del	DEL	A	TCGA-KS-A41L-01A-11D-A23M-08		39899982	151254294	7	9808											
PDE4D	5144	broad.mit.edu	37	chr5	58270678	58270678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactgccactgtccttttccGtgtctgactcaccatcttcc	6	16	3	1			TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr5:58270678G>A	ENST00000340635.6	-	15	2418	c.2243C>T	c.(2242-2244)aCg>aTg	p.T748M	PDE4D_ENST00000502484.2_Missense_Mutation_p.T687M|PDE4D_ENST00000358923.6_Missense_Mutation_p.T446M|PDE4D_ENST00000360047.5_Missense_Mutation_p.T612M|PDE4D_ENST00000546160.1_Missense_Mutation_p.T687M|PDE4D_ENST00000317118.8_Missense_Mutation_p.T457M|PDE4D_ENST00000405755.2_Missense_Mutation_p.T626M|PDE4D_ENST00000503258.1_Missense_Mutation_p.T618M|PDE4D_ENST00000507116.1_Missense_Mutation_p.T684M	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	748					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GTCCTTTTCCGTGTCTGACTC	0.493																																						ENST00000340635.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15						c.(2242-2244)aCg>aTg		phosphodiesterase 4D, cAMP-specific	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)						242	248	246					5																	58270678		1994	4161	6155	SO:0001583	missense	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:58270678G>A		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"Phosphodiesterases"	8783	protein-coding gene	gene with protein product	"phosphodiesterase E3 dunce homolog (Drosophila)"	600129	"phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.2243C>T	5.37:g.58270678G>A	ENSP00000345502:p.Thr748Met					PDE4D_ENST00000358923.6_Missense_Mutation_p.T446M|PDE4D_ENST00000507116.1_Missense_Mutation_p.T684M|PDE4D_ENST00000546160.1_Missense_Mutation_p.T687M|PDE4D_ENST00000317118.8_Missense_Mutation_p.T457M|PDE4D_ENST00000405755.2_Missense_Mutation_p.T626M|PDE4D_ENST00000360047.5_Missense_Mutation_p.T612M|PDE4D_ENST00000503258.1_Missense_Mutation_p.T618M|PDE4D_ENST00000502484.2_Missense_Mutation_p.T687M	p.T748M	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	15	2418	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	748					O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	ENST00000340635.6	37	c.2243C>T	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561649	0.65538	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000358923;ENST00000317118;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160	T;T;T;T;T;T;T;T;T	0.66815	-0.22;-0.22;-0.23;-0.01;-0.01;-0.22;-0.22;-0.23;-0.23	5.22	5.22	0.72569	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.364948	0.29980	N	0.010701	T	0.76793	0.4037	L	0.39898	1.24	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.983;0.966;1.0;0.982;0.982	D;D;D;P;B;D;P;P	0.83275	0.996;0.99;0.996;0.578;0.42;0.996;0.707;0.707	T	0.76372	-0.2983	10	0.49607	T	0.09	.	18.9581	0.92668	0.0:0.0:1.0:0.0	.	687;748;684;611;626;618;523;457	Q08499-11;Q08499;Q08499-6;Q08499-2;Q08499-9;Q08499-10;Q08499-4;Q08499-8	.;PDE4D_HUMAN;.;.;.;.;.;.	M	748;617;612;684;446;457;618;626;687;687	ENSP00000345502:T748M;ENSP00000353152:T612M;ENSP00000424852:T684M;ENSP00000351800:T446M;ENSP00000321739:T457M;ENSP00000425605:T618M;ENSP00000384806:T626M;ENSP00000423094:T687M;ENSP00000442734:T687M	ENSP00000321739:T457M	T	-	2	0	PDE4D	58306435	1.000000	0.71417	0.971000	0.41717	0.960000	0.62799	9.017000	0.93651	2.728000	0.93425	0.655000	0.94253	ACG		0.493	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3			5	352	0	0	0	1	0	5	352					A	58270678	G	A	58270678	3	1	479	1	0	0	0	0	1	0	0	0	11642	1145	40	1	190	1	PDE4D	5	58270678	Missense_Mutation	SNP	G	TCGA-KS-A41L-01A-11D-A23M-08		58270678	122644582	8	9809											
ADAMTS19	171019	broad.mit.edu	37	chr5	128844806	128844806	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgaggacttcatatttAttgagccactcaatgataca	6	8	3	3			TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr5:128844806A>T	ENST00000274487.4	+	3	911	c.766A>T	c.(766-768)Att>Ttt	p.I256F	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	256						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)		CTTCATATTTATTGAGCCACT	0.358																																						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.(766-768)Att>Ttt		ADAM metallopeptidase with thrombospondin type 1 motif, 19							84	80	82					5																	128844806		2203	4299	6502	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128844806A>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.766A>T	5.37:g.128844806A>T	ENSP00000274487:p.Ile256Phe					CTC-575N7.1_ENST00000503616.1_RNA	p.I256F	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)	3	911	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	256						Missense_Mutation	SNP	ENST00000274487.4	37	c.766A>T	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.961600	0.74016	.	.	ENSG00000145808	ENST00000274487	T	0.16073	2.37	4.27	4.27	0.50696	Peptidase M12B, propeptide (1);	0.000000	0.64402	D	0.000002	T	0.48409	0.1498	M	0.90759	3.145	0.58432	D	0.999997	D	0.89917	1.0	D	0.78314	0.991	T	0.59852	-0.7376	9	.	.	.	.	14.4503	0.67379	1.0:0.0:0.0:0.0	.	256	Q8TE59	ATS19_HUMAN	F	256	ENSP00000274487:I256F	.	I	+	1	0	ADAMTS19	128872705	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.277000	0.72608	2.158000	0.67659	0.528000	0.53228	ATT		0.358	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		5	47	0	0	0	1	0	5	47					T	128844806	A	T	128844806	3	4	479	1	0	0	0	0	1	0	0	0	264	449	16	5	776	5	ADAMTS19	5	128844806	Missense_Mutation	SNP	A	TCGA-KS-A41L-01A-11D-A23M-08	70574128	128844806	52070454	9	9810											
ADAM18	8749	broad.mit.edu	37	chr8	39463842	39463842	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttagatgatttacatcattaCaattgatggacaaccttaca	5	7	1	3			TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr8:39463842C>A	ENST00000265707.5	+	3	194	c.149C>A	c.(148-150)aCa>aAa	p.T50K	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.T50K|ADAM18_ENST00000520772.1_Missense_Mutation_p.T50K	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	50					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TACATCATTACAATTGATGGA	0.269																																						ENST00000265707.5																			0				NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71						c.(148-150)aCa>aAa		ADAM metallopeptidase domain 18							67	68	68					8																	39463842		2202	4286	6488	SO:0001583	missense	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39463842C>A	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"ADAM metallopeptidase domain containing"	196	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 18"			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.149C>A	8.37:g.39463842C>A	ENSP00000265707:p.Thr50Lys					ADAM18_ENST00000520772.1_Missense_Mutation_p.T50K|ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.T50K	p.T50K	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		3	194	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	50					B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	c.149C>A	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.936127	0.52972	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000520772;ENST00000522198	T;T;T	0.06068	3.35;3.35;3.35	4.93	3.07	0.35406	Peptidase M12B, propeptide (1);	0.164796	0.28964	N	0.013567	T	0.06462	0.0166	L	0.46741	1.465	0.80722	D	1	B;B;B	0.33379	0.357;0.41;0.236	B;B;B	0.37091	0.155;0.241;0.115	T	0.38243	-0.9670	10	0.19590	T	0.45	.	6.7137	0.23292	0.1797:0.7241:0.0:0.0962	.	50;50;50	Q9Y3Q7-2;Q9Y3Q7;Q6IRW9	.;ADA18_HUMAN;.	K	50;50;50;6	ENSP00000265707:T50K;ENSP00000369195:T50K;ENSP00000429908:T50K	ENSP00000265707:T50K	T	+	2	0	ADAM18	39582999	0.988000	0.35896	0.988000	0.46212	0.221000	0.24807	0.178000	0.16820	1.199000	0.43173	-0.309000	0.09137	ACA		0.269	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		6	18	1	0	0.0381472	1	0.0400546	6	18					A	39463842	C	A	39463842	3	1	479	1	0	0	0	0	1	0	0	0	239	478	17	4	159	4	ADAM18	8	39463842	Missense_Mutation	SNP	C	TCGA-KS-A41L-01A-11D-A23M-08		39463842	106900180	10	9811											
JAK2	3717	broad.mit.edu	37	chr9	5044449	5044449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggcagcaacagagcctatCggcatggaatatctcgaggt	13	9	1	1	rs371826393		TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr9:5044449C>T	ENST00000381652.3	+	5	891	c.397C>T	c.(397-399)Cgg>Tgg	p.R133W	JAK2_ENST00000544510.1_5'UTR|JAK2_ENST00000539801.1_Missense_Mutation_p.R133W	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	133	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with cytokine/interferon/growth hormone receptors. {ECO:0000250}.				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)	CAGAGCCTATCGGCATGGAAT	0.383		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.(397-399)Cgg>Tgg		Janus kinase 2		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	141	131	134		397	4.4	1.0	9		134	1,8599	1.2+/-3.3	0,1,4299	no	missense	JAK2	NM_004972.3	101	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	133/1133	5044449	2,13004	2203	4300	6503	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.chr9:5044449C>T		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.397C>T	9.37:g.5044449C>T	ENSP00000371067:p.Arg133Trp					JAK2_ENST00000544510.1_5'UTR|JAK2_ENST00000539801.1_Missense_Mutation_p.R133W	p.R133W	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	5	891	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	133			FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).		O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	c.397C>T	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.659513	0.88154	2.27E-4	1.16E-4	ENSG00000096968	ENST00000539801;ENST00000381652	T;T	0.44083	0.93;0.93	5.35	4.42	0.53409	Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	T	0.68933	0.3055	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76340	-0.2995	10	0.87932	D	0	-11.3373	15.2526	0.73559	0.1458:0.8542:0.0:0.0	.	133	O60674	JAK2_HUMAN	W	133	ENSP00000440387:R133W;ENSP00000371067:R133W	ENSP00000371067:R133W	R	+	1	2	JAK2	5034449	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.045000	0.49838	1.311000	0.45024	0.655000	0.94253	CGG		0.383	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			26	43	0	0	0	1	0	26	43					T	5044449	C	T	5044449	3	4	479	1	0	0	0	0	1	0	0	0	7938	875	31	1	407	1	JAK2	9	5044449	Missense_Mutation	SNP	C	TCGA-KS-A41L-01A-11D-A23M-08		5044449	136168982	11	9812											
KNDC1	85442	broad.mit.edu	37	chr10	135033493	135033493	+	Frame_Shift_Del	DEL	A	A	-													cgacagcctgtgtctgatggAagggcggcgcttccgggcgc							TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr10:135033493delA	ENST00000304613.3	+	29	4916	c.4895delA	c.(4894-4896)gaafs	p.E1632fs	KNDC1_ENST00000368572.2_Frame_Shift_Del_p.E1634fs			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1632	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TGTCTGATGGAAGGGCGGCGC	0.692																																						ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(4894-4896)gafs		kinase non-catalytic C-lobe domain (KIND) containing 1							14	15	15					10																	135033493		2110	4155	6265	SO:0001589	frameshift_variant	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135033493delA	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.4895delA	10.37:g.135033493delA	ENSP00000304437:p.Glu1632fs					KNDC1_ENST00000368572.2_Frame_Shift_Del_p.E1634fs	p.E1632fs			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	29	4916	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1632			Ras-GEF.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Frame_Shift_Del	DEL	ENST00000304613.3	37	c.4895delA	CCDS7674.1																																																																																				0.692	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		2	4						2	4	---	---	---	---	-	135033493	A	-	135033493	7	5	479	1	0	1	0	1	0	0	0	0	8426	246	9	0	5009	0	KNDC1	10	135033493	Frame_Shift_Del	DEL	A	TCGA-KS-A41L-01A-11D-A23M-08		135033493	501254	12	9813											
LRP1	4035	broad.mit.edu	37	chr12	57570840	57570840	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagccctgactagtttcgaGgtggtgattcagtatggcct	12	10	1	2	rs533098207		TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr12:57570840G>A	ENST00000243077.3	+	25	4474	c.4008G>A	c.(4006-4008)gaG>gaA	p.E1336E		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1336					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)	CTAGTTTCGAGGTGGTGATTC	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.(4006-4008)gaG>gaA		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						124	107	113					12																	57570840		2203	4300	6503	SO:0001819	synonymous_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.chr12:57570840G>A	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.4008G>A	12.37:g.57570840G>A							p.E1336E	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	25	4474	+			1336					Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.4008G>A	CCDS8932.1																																																																																				0.562	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		42	98	0	0	0	1	0	42	98					A	57570840	G	A	57570840	2	1	479	1	0	0	0	0	0	0	0	1	8951	991	35	2		2	LRP1	12	57570840	Silent	SNP	G	TCGA-KS-A41L-01A-11D-A23M-08		57570840	76281055	13	9814											
SPATA13	221178	broad.mit.edu	37	chr13	24860393	24860393	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtctgcgcagaagccctgtgGgaccatgtgaccatggatga	14	10	1	3			TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr13:24860393G>T	ENST00000382095.4	+	5	875	c.468G>T	c.(466-468)tgG>tgT	p.W156C	RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.W659C|SPATA13_ENST00000382108.3_Missense_Mutation_p.W781C|SPATA13_ENST00000409126.1_Missense_Mutation_p.W78C|SPATA13_ENST00000343003.6_Missense_Mutation_p.W100C|SPATA13_ENST00000424834.2_Missense_Mutation_p.W781C|SPATA13_ENST00000399949.2_Missense_Mutation_p.W78C	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	156	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		AAGCCCTGTGGGACCATGTGA	0.602																																						ENST00000424834.2																			0				breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23						c.(2341-2343)tgG>tgT		spermatogenesis associated 13							115	106	109					13																	24860393		2203	4300	6503	SO:0001583	missense	221178				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity	g.chr13:24860393G>T	AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.468G>T	13.37:g.24860393G>T	ENSP00000371527:p.Trp156Cys					SPATA13_ENST00000409126.1_Missense_Mutation_p.W78C|SPATA13_ENST00000343003.6_Missense_Mutation_p.W100C|SPATA13_ENST00000382095.4_Missense_Mutation_p.W156C|SPATA13_ENST00000399949.2_Missense_Mutation_p.W78C|SPATA13_ENST00000382108.3_Missense_Mutation_p.W781C	p.W781C			Q96N96	SPT13_HUMAN		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)	8	2816	+		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)	156					A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Missense_Mutation	SNP	ENST00000382095.4	37	c.2343G>T	CCDS9305.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.7|23.7	4.448008|4.448008	0.84101|0.84101	.|.	.|.	ENSG00000182957|ENSG00000182957	ENST00000424834|ENST00000382108;ENST00000382095;ENST00000434675;ENST00000438694;ENST00000399949;ENST00000409126;ENST00000343003;ENST00000454083	.|T;T;T;T;T;T;T	.|0.49720	.|0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.25|5.25	5.25|5.25	0.73442|0.73442	.|Src homology-3 domain (4);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.69967	.|0.3170	M|M	0.73598|0.73598	2.24|2.24	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.91635	.|0.999;0.997;0.998;0.997;0.996;0.998	.|T	.|0.73820	.|-0.3862	.|10	.|0.87932	.|D	.|0	.|.	17.8523|17.8523	0.88751|0.88751	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|78;100;102;102;78;156	.|E9PFR9;Q96N96-3;Q96N96-5;Q96N96-4;Q96N96-2;Q96N96	.|.;.;.;.;.;SPT13_HUMAN	X|C	819|781;156;116;102;78;78;100;100	.|ENSP00000371542:W781C;ENSP00000371527:W156C;ENSP00000401605:W116C;ENSP00000382830:W78C;ENSP00000386471:W78C;ENSP00000343631:W100C;ENSP00000397498:W100C	.|ENSP00000343631:W100C	G|W	+|+	1|3	0|0	SPATA13|SPATA13	23758393|23758393	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.471000|9.471000	0.97696|0.97696	2.462000|2.462000	0.83206|0.83206	0.655000|0.655000	0.94253|0.94253	GGA|TGG		0.602	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023		65	94	1	0	1.1794e-34	1	1.50106e-34	65	94					T	24860393	G	T	24860393	3	4	479	1	0	0	0	0	1	0	0	0	14999	1241	43	4	2361	4	SPATA13	13	24860393	Missense_Mutation	SNP	G	TCGA-KS-A41L-01A-11D-A23M-08		24860393	90309485	14	9815											
TSC22D1	8848	broad.mit.edu	37	chr13	45008991	45008991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccacttcttctctgaccGcatacatcaaatggcttttc	4	15	3	1			TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr13:45008991G>A	ENST00000458659.2	-	3	3483	c.2993C>T	c.(2992-2994)gCg>gTg	p.A998V	RP11-71C5.2_ENST00000426579.2_RNA|TSC22D1_ENST00000501704.2_Intron|TSC22D1_ENST00000261489.2_Missense_Mutation_p.A69V	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	998					negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TTCTCTGACCGCATACATCAA	0.403																																						ENST00000458659.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2992-2994)gCg>gTg		TSC22 domain family, member 1							104	113	110					13																	45008991		2203	4300	6503	SO:0001583	missense	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45008991G>A	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"transforming growth factor beta 1 induced transcript 4"	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.2993C>T	13.37:g.45008991G>A	ENSP00000397435:p.Ala998Val					TSC22D1_ENST00000501704.2_Intron|TSC22D1_ENST00000261489.2_Missense_Mutation_p.A69V	p.A998V	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	3	3483	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	998					B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	ENST00000458659.2	37	c.2993C>T	CCDS31966.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.136860	0.56936	.	.	ENSG00000102804	ENST00000458659;ENST00000261489	T	0.72615	-0.67	5.72	4.88	0.63580	.	0.270367	0.26499	N	0.024037	D	0.82756	0.5106	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;0.976	D;B	0.91635	0.999;0.375	D	0.84620	0.0683	10	0.87932	D	0	.	12.5457	0.56197	0.0801:0.0:0.9199:0.0	.	998;69	Q15714;Q15714-2	T22D1_HUMAN;.	V	998;69	ENSP00000397435:A998V	ENSP00000261489:A69V	A	-	2	0	TSC22D1	43906991	1.000000	0.71417	0.992000	0.48379	0.654000	0.38779	9.869000	0.99810	1.437000	0.47472	-0.142000	0.14014	GCG		0.403	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		4	157	0	0	0	1	0	4	157					A	45008991	G	A	45008991	3	1	479	1	0	0	0	0	1	0	0	0	16604	1087	38	1	232	1	TSC22D1	13	45008991	Missense_Mutation	SNP	G	TCGA-KS-A41L-01A-11D-A23M-08	20148598	45008991	70160887	15	9816											
KRBA2	124751	broad.mit.edu	37	chr17	8273090	8273090	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgatcctggtagtataaaaTgaacttgaactcaccatcgg	9	8	1	3			TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr17:8273090T>C	ENST00000331336.2	-	2	846	c.841A>G	c.(841-843)Att>Gtt	p.I281V	RP11-849F2.7_ENST00000582471.1_3'UTR|KRBA2_ENST00000396267.1_Missense_Mutation_p.I199V|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.5_ENST00000583963.1_RNA	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	281	Integrase catalytic. {ECO:0000255|PROSITE-ProRule:PRU00457}.				DNA integration (GO:0015074)|regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						TAGTATAAAATGAACTTGAAC	0.423																																						ENST00000396267.1																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						c.(595-597)Att>Gtt		KRAB-A domain containing 2							75	72	73					17																	8273090		2203	4300	6503	SO:0001583	missense	124751				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding	g.chr17:8273090T>C	BC024723	CCDS11141.1	17p13.1	2013-01-08	2006-08-15		ENSG00000184619	ENSG00000184619		"-"	26989	protein-coding gene	gene with protein product			"KRAB A domain containing 2"			12477932	Standard	NM_213597		Approved		uc002glf.1	Q6ZNG9	OTTHUMG00000132864	ENST00000331336.2:c.841A>G	17.37:g.8273090T>C	ENSP00000328017:p.Ile281Val					RP11-849F2.7_ENST00000582471.1_3'UTR|KRBA2_ENST00000331336.2_Missense_Mutation_p.I281V|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.5_ENST00000583963.1_RNA	p.I199V			Q6ZNG9	KRBA2_HUMAN			2	1426	-			281					Q8IYY0	Missense_Mutation	SNP	ENST00000331336.2	37	c.595A>G	CCDS11141.1	.	.	.	.	.	.	.	.	.	.	t	7.371	0.626784	0.14257	.	.	ENSG00000184619	ENST00000396267;ENST00000331336	T;T	0.43294	0.95;0.95	2.96	1.88	0.25563	Integrase, catalytic core (1);Ribonuclease H-like (1);	.	.	.	.	T	0.30008	0.0751	L	0.38531	1.155	0.22213	N	0.999281	B	0.33964	0.434	B	0.34093	0.175	T	0.23332	-1.0191	9	0.62326	D	0.03	.	4.8506	0.13535	0.0:0.1431:0.0:0.8569	.	281	Q6ZNG9	KRBA2_HUMAN	V	199;281	ENSP00000379565:I199V;ENSP00000328017:I281V	ENSP00000328017:I281V	I	-	1	0	KRBA2	8213815	1.000000	0.71417	0.998000	0.56505	0.762000	0.43233	3.061000	0.49963	0.550000	0.28991	0.528000	0.53228	ATT		0.423	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256338.1	NM_213597		46	51	0	0	0	1	0	46	51					C	8273090	T	C	8273090	3	2	479	1	0	0	0	0	1	0	0	0	8440	1464	51	3	641	3	KRBA2	17	8273090	Missense_Mutation	SNP	T	TCGA-KS-A41L-01A-11D-A23M-08		8273090	72922120	16	9817											
SYNRG	11276	broad.mit.edu	37	chr17	35946585	35946585	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtactgtgggcctggaggacGcatgcccaggaagggtgctt	17	9	0	0	rs143289977		TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr17:35946585G>A	ENST00000339208.6	-	4	453	c.313C>T	c.(313-315)Cgt>Tgt	p.R105C	SYNRG_ENST00000346661.4_Missense_Mutation_p.R105C|SYNRG_ENST00000502449.2_Missense_Mutation_p.R105C|SYNRG_ENST00000345615.4_Missense_Mutation_p.R105C|SYNRG_ENST00000591288.1_Missense_Mutation_p.R105C|SYNRG_ENST00000585472.1_Missense_Mutation_p.R104C|SYNRG_ENST00000394378.2_Missense_Mutation_p.R105C	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	105					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCTGGAGGACGCATGCCCAGG	0.478																																						ENST00000339208.6																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(313-315)Cgt>Tgt		synergin, gamma		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	143	131	135		313,310,313,313,313,313,313	4.7	1.0	17	dbSNP_134	135	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense	SYNRG	NM_001163544.1,NM_001163545.1,NM_001163546.1,NM_001163547.1,NM_007247.4,NM_080550.3,NM_198882.1	180,180,180,180,180,180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	105/1237,104/1236,105/1180,105/1109,105/1315,105/1225,105/1260	35946585	1,13005	2203	4300	6503	SO:0001583	missense	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35946585G>A	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"gamma-synergin", "adaptor-related protein complex 1 gamma subunit-binding protein 1"	607291	"AP1 gamma subunit binding protein 1"	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.313C>T	17.37:g.35946585G>A	ENSP00000343610:p.Arg105Cys					SYNRG_ENST00000585472.1_Missense_Mutation_p.R104C|SYNRG_ENST00000502449.2_Missense_Mutation_p.R105C|SYNRG_ENST00000346661.4_Missense_Mutation_p.R105C|SYNRG_ENST00000394378.2_Missense_Mutation_p.R105C|SYNRG_ENST00000345615.4_Missense_Mutation_p.R105C|SYNRG_ENST00000591288.1_Missense_Mutation_p.R105C	p.R105C	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN			4	453	-			105					A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	37	c.313C>T	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273791	0.80580	2.27E-4	0.0	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378;ENST00000394379	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	4.74	4.74	0.60224	.	0.112886	0.64402	D	0.000020	T	0.50222	0.1603	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.999;0.993;0.993;0.993;0.993;0.997;0.997	P;P;P;P;P;P;P	0.59703	0.862;0.644;0.644;0.752;0.644;0.781;0.781	T	0.53697	-0.8402	10	0.59425	D	0.04	-1.0122	18.0705	0.89404	0.0:0.0:1.0:0.0	.	105;105;105;105;105;105;105	A8MYE0;B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;.;SYNRG_HUMAN	C	105	ENSP00000005279:R105C;ENSP00000343610:R105C;ENSP00000315722:R105C;ENSP00000424893:R105C;ENSP00000377903:R105C	ENSP00000343610:R105C	R	-	1	0	SYNRG	33020698	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.686000	0.61700	2.316000	0.78162	0.591000	0.81541	CGT		0.478	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		4	121	0	0	0	1	0	4	121					A	35946585	G	A	35946585	3	1	479	1	0	0	0	0	1	0	0	0	15457	1087	38	1	3780	1	SYNRG	17	35946585	Missense_Mutation	SNP	G	TCGA-KS-A41L-01A-11D-A23M-08	27673495	35946585	45248625	17	9818											
LRRC46	90506	broad.mit.edu	37	chr17	45909518	45909523	+	In_Frame_Del	DEL	TATCAC	TATCAC	-													gtctgcatcactgaagccctTatcactaagcggaacttgac							TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr17:45909518_45909523delTATCAC	ENST00000269025.4	+	2	426_431	c.63_68delTATCAC	c.(61-69)cttatcact>ctt	p.IT22del	MRPL10_ENST00000290208.7_5'Flank|MRPL10_ENST00000351111.2_5'Flank|MRPL10_ENST00000414011.1_5'Flank	NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	22										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						CTGAAGCCCTTATCACTAAGCGGAAC	0.529																																						ENST00000269025.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						c.(61-69)ctt>ct		leucine rich repeat containing 46																																				SO:0001651	inframe_deletion	90506							g.chr17:45909518_45909523delTATCAC		CCDS11518.1	17q21.32	2005-08-09				ENSG00000141294			25047	protein-coding gene	gene with protein product						12477932	Standard	NM_033413		Approved	MGC16309	uc002ima.3	Q96FV0		ENST00000269025.4:c.63_68delTATCAC	17.37:g.45909518_45909523delTATCAC	ENSP00000269025:p.Ile22_Thr23del						p.LIT21del	NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN			2	426_431	+			21					A8K9Q0	In_Frame_Del	DEL	ENST00000269025.4	37	c.63_68delTATCAC	CCDS11518.1																																																																																				0.529	LRRC46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441377.1	NM_033413		8	161						8	161	---	---	---	---	-	45909523	TATCAC	-	45909518	7	5	479	1	0	1	0	1	0	0	0	0	9003	1741	61	0	69	0	LRRC46	17	45909518	In_Frame_Del	DEL	TATCAC	TCGA-KS-A41L-01A-11D-A23M-08	9962933	45909518	35285692	18	9819											
SIGLEC12	89858	broad.mit.edu	37	chr19	52001329	52001329	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgggagcctagagggtTctgagctcggcaggtgaatt	17	7	1	3			TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr19:52001329T>A	ENST00000291707.3	-	5	1403	c.1348A>T	c.(1348-1350)Aac>Tac	p.N450Y	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.N332Y	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	450	Ig-like C2-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCTAGAGGGTTCTGAGCTCGG	0.592																																						ENST00000291707.3																			0				NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61						c.(1348-1350)Aac>Tac		sialic acid binding Ig-like lectin 12 (gene/pseudogene)							61	58	59					19																	52001329		2203	4300	6503	SO:0001583	missense	89858				cell adhesion	integral to membrane	sugar binding	g.chr19:52001329T>A	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15482	protein-coding gene	gene with protein product		606094	"SIGLEC-like 1", "sialic acid binding Ig-like lectin 12"	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.1348A>T	19.37:g.52001329T>A	ENSP00000291707:p.Asn450Tyr					SIGLEC12_ENST00000598614.1_Missense_Mutation_p.N332Y	p.N450Y	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	5	1403	-		all_neural(266;0.0199)	450			Ig-like C2-type 2.		Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	37	c.1348A>T	CCDS12833.1	.	.	.	.	.	.	.	.	.	.	.	15.53	2.860964	0.51482	.	.	ENSG00000254521	ENST00000291707	T	0.23552	1.9	1.23	-2.47	0.06442	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.629214	0.12996	N	0.422058	T	0.56499	0.1989	H	0.99475	4.585	0.09310	N	1	P;P	0.50943	0.899;0.94	P;P	0.55222	0.771;0.688	T	0.51466	-0.8702	10	0.87932	D	0	.	5.7718	0.18257	0.0:0.0:0.6115:0.3885	.	450;332	Q96PQ1;Q96PQ1-2	SIG12_HUMAN;.	Y	450	ENSP00000291707:N450Y	ENSP00000291707:N450Y	N	-	1	0	SIGLEC12	56693141	0.012000	0.17670	0.028000	0.17463	0.950000	0.60333	0.047000	0.14056	-0.796000	0.04456	0.324000	0.21423	AAC		0.592	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		20	53	0	0	0	1	0	20	53					A	52001329	T	A	52001329	3	1	479	1	0	0	0	0	1	0	0	0	14308	1783	62	5	455	5	SIGLEC12	19	52001329	Missense_Mutation	SNP	T	TCGA-KS-A41L-01A-11D-A23M-08		52001329	7127654	19	9820											
SLC2A11	66035	broad.mit.edu	37	chr22	24210757	24210757	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgcttatgtggtccctcatCgtgtctctgtatcccctggg	10	13	2	0	rs201151293		TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr22:24210757C>A	ENST00000345044.6	+	3	478	c.210C>A	c.(208-210)atC>atA	p.I70I	SLC2A11_ENST00000316185.8_Silent_p.I73I|SLC2A11_ENST00000405847.1_Silent_p.I70I|SLC2A11_ENST00000398356.2_Silent_p.I77I|SLC2A11_ENST00000403208.3_Silent_p.I70I|AP000350.10_ENST00000433835.3_Silent_p.I35I|SLC2A11_ENST00000467660.1_3'UTR			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	70					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						GGTCCCTCATCGTGTCTCTGT	0.562																																						ENST00000345044.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						c.(208-210)atC>atA		solute carrier family 2 (facilitated glucose transporter), member 11							195	144	161					22																	24210757		2203	4300	6503	SO:0001819	synonymous_variant	66035					integral to membrane|plasma membrane	sugar transmembrane transporter activity	g.chr22:24210757C>A	AJ271290	CCDS13818.1, CCDS33616.1, CCDS46673.1, CCDS74828.1	22q11.23	2013-05-22			ENSG00000133460	ENSG00000133460		"Solute carriers"	14239	protein-coding gene	gene with protein product		610367					Standard	NM_001024938		Approved	GLUT11, GLUT10	uc002zyp.4	Q9BYW1	OTTHUMG00000166469	ENST00000345044.6:c.210C>A	22.37:g.24210757C>A						SLC2A11_ENST00000467660.1_3'UTR|SLC2A11_ENST00000316185.8_Silent_p.I73I|AP000350.10_ENST00000433835.3_Silent_p.I35I|SLC2A11_ENST00000405847.1_Silent_p.I70I|SLC2A11_ENST00000403208.3_Silent_p.I70I|SLC2A11_ENST00000398356.2_Silent_p.I77I	p.I70I			Q9BYW1	GTR11_HUMAN			3	478	+			70					E9PH55|Q542Y4|Q6ICJ5|Q8WXF9|Q8WYM4	Silent	SNP	ENST00000345044.6	37	c.210C>A	CCDS46673.1	.	.	.	.	.	.	.	.	.	.	C	4.280	0.051153	0.08243	.	.	ENSG00000251357	ENST00000421180	.	.	.	3.24	-4.11	0.03928	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.8845	0.18874	0.1515:0.2324:0.0:0.6161	.	.	.	.	X	46	.	.	S	+	2	0	AP000350.10	22540757	0.003000	0.15002	0.960000	0.40013	0.355000	0.29361	-2.051000	0.01402	-0.803000	0.04415	0.400000	0.26472	TCG		0.562	SLC2A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319889.3	NM_030807		4	114	1	0	0.150653	1	0.150653	4	114					A	24210757	C	A	24210757	2	1	479	1	0	0	0	0	0	0	0	1	14540	874	31	4		4	SLC2A11	22	24210757	Silent	SNP	C	TCGA-KS-A41L-01A-11D-A23M-08		24210757	27093809	20	9821											
RHBDD3	25807	broad.mit.edu	37	chr22	29660060	29660060	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcactgccagcagcccagaaGccagggcgagcagggctgag	16	13	0	2			TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr22:29660060G>T	ENST00000216085.7	-	4	720	c.296C>A	c.(295-297)gCt>gAt	p.A99D	CTA-984G1.5_ENST00000433125.1_RNA	NM_012265.1	NP_036397.1	Q9Y3P4	RHBD3_HUMAN	rhomboid domain containing 3	99					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						CAGCCCAGAAGCCAGGGCGAG	0.672																																						ENST00000216085.7																			0				lung(1)|ovary(1)	2						c.(295-297)gCt>gAt		rhomboid domain containing 3							12	11	11					22																	29660060		2174	4255	6429	SO:0001583	missense	25807					integral to membrane	serine-type endopeptidase activity	g.chr22:29660060G>T	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.296C>A	22.37:g.29660060G>T	ENSP00000216085:p.Ala99Asp						p.A99D	NM_012265.1	NP_036397.1	Q9Y3P4	RHBD3_HUMAN			4	720	-			99					Q6I9X3|Q9UGQ7	Missense_Mutation	SNP	ENST00000216085.7	37	c.296C>A	CCDS13850.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.529090	0.27387	.	.	ENSG00000100263	ENST00000216085;ENST00000414672;ENST00000406335	T;T;T	0.16196	2.36;2.36;2.36	5.2	2.99	0.34606	Peptidase S54, rhomboid domain (1);	0.541938	0.17548	N	0.170292	T	0.26085	0.0636	L	0.57536	1.79	0.20563	N	0.999883	P	0.39311	0.667	P	0.50231	0.635	T	0.04551	-1.0943	10	0.36615	T	0.2	-3.083	8.4979	0.33138	0.0824:0.2694:0.6482:0.0	.	99	Q9Y3P4	RHBD3_HUMAN	D	99	ENSP00000216085:A99D;ENSP00000413128:A99D;ENSP00000384113:A99D	ENSP00000216085:A99D	A	-	2	0	RHBDD3	27990060	0.390000	0.25213	0.829000	0.32907	0.014000	0.08584	1.724000	0.38064	1.209000	0.43321	-0.219000	0.12488	GCT		0.672	RHBDD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321085.1	NM_012265		3	13	1	0	6.4e-05	1	7.46667e-05	3	13					T	29660060	G	T	29660060	3	4	479	1	0	0	0	0	1	0	0	0	13318	971	34	4	880	4	RHBDD3	22	29660060	Missense_Mutation	SNP	G	TCGA-KS-A41L-01A-11D-A23M-08	5449303	29660060	21644506	21	9822											
TYMP	1890	broad.mit.edu	37	chr22	50967924	50967924	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgcccaaccctccccacgcaCcgatctgtgcgccctgcgcg	9	22	1	0			TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr22:50967924C>G	ENST00000252029.3	-	2	377		c.e2+1		TYMP_ENST00000395678.3_Splice_Site|TYMP_ENST00000395680.1_Splice_Site|TYMP_ENST00000395681.1_Splice_Site	NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN	thymidine phosphorylase						angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|chemotaxis (GO:0006935)|DNA replication (GO:0006260)|mitochondrial genome maintenance (GO:0000002)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphorylase activity (GO:0004645)|platelet-derived growth factor receptor binding (GO:0005161)|pyrimidine-nucleoside phosphorylase activity (GO:0016154)|thymidine phosphorylase activity (GO:0009032)|transferase activity, transferring pentosyl groups (GO:0016763)			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		all_cancers(38;4.58e-14)|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)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Cidofovir(DB00369)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Trifluridine(DB00432)	TCCCCACGCACCGATCTGTGC	0.687																																						ENST00000252029.3																			0				large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5						c.e2+1		thymidine phosphorylase	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)						40	45	43					22																	50967924		2202	4297	6499	SO:0001630	splice_region_variant	1890				angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity	g.chr22:50967924C>G	M63193	CCDS14096.1, CCDS58811.1	22q13	2014-09-17	2008-01-21	2008-01-21	ENSG00000025708	ENSG00000025708	2.4.2.4		3148	protein-coding gene	gene with protein product	"gliostatin"	131222	"endothelial cell growth factor 1 (platelet-derived)"	MNGIE, ECGF1		1590793, 11733540	Standard	NM_001113755		Approved		uc003bme.5	P19971	OTTHUMG00000150249	ENST00000252029.3:c.214+1G>C	22.37:g.50967924C>G						TYMP_ENST00000395678.3_Splice_Site|TYMP_ENST00000395680.1_Splice_Site|TYMP_ENST00000395681.1_Splice_Site		NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	2	377	-		all_cancers(38;4.58e-14)|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)						A8MW15|H9KVA0|Q13390|Q8WVB7	Splice_Site	SNP	ENST00000252029.3	37		CCDS14096.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.659436	0.88154	.	.	ENSG00000025708	ENST00000395680;ENST00000395681;ENST00000252029;ENST00000395678;ENST00000425169	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.278	0.60198	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TYMP	49314790	0.986000	0.35501	0.647000	0.29507	0.761000	0.43186	0.994000	0.29693	2.198000	0.70561	0.448000	0.29417	.		0.687	TYMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317081.1	NM_001953	Intron	4	139	0	0	0	1	0	4	139					G	50967924	C	G	50967924	5	3	479	1	0	0	0	0	0	0	1	0	16808	521	18	4	1269	4	TYMP	22	50967924	Splice_Site	SNP	C	TCGA-KS-A41L-01A-11D-A23M-08	21307864	50967924	336642	22	9823											
MAGEB6	158809	broad.mit.edu	37	chrX	26212267	26212267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacctcccgtgatgcctccGttcctcaggagtctcaggga	11	15	2	1	rs201693952		TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chrX:26212267G>A	ENST00000379034.1	+	2	453	c.304G>A	c.(304-306)Gtt>Att	p.V102I		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	102	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TGATGCCTCCGTTCCTCAGGA	0.522													.|||	1	0.000264901	0	0	3775	,	,		13942	0.001		0	False		,,,				2504	0					ENST00000379034.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(304-306)Gtt>Att		melanoma antigen family B, 6							85	78	80					X																	26212267		2196	4251	6447	SO:0001583	missense	158809							g.chrX:26212267G>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.304G>A	X.37:g.26212267G>A	ENSP00000368320:p.Val102Ile						p.V102I	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	453	+			102			Ser-rich.		Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.304G>A	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.432081	0.01108	.	.	ENSG00000176746	ENST00000379034	T	0.01933	4.55	1.56	-3.12	0.05282	.	.	.	.	.	T	0.01092	0.0036	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44620	-0.9316	9	0.40728	T	0.16	.	0.5173	0.00605	0.1955:0.1693:0.2972:0.338	.	102	Q8N7X4	MAGB6_HUMAN	I	102	ENSP00000368320:V102I	ENSP00000368320:V102I	V	+	1	0	MAGEB6	26122188	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.778000	0.01778	-3.349000	0.00181	-3.046000	0.00070	GTT		0.522	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		10	175	0	0	0	1	0	10	175					A	26212267	G	A	26212267	3	1	479	1	0	0	0	0	1	0	0	0	9179	1145	40	1	306	1	MAGEB6	23	26212267	Missense_Mutation	SNP	G	TCGA-KS-A41L-01A-11D-A23M-08		26212267	129058293	23	9824											
COL4A5	1287	broad.mit.edu	37	chrX	107783004	107783004	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgttctccaggatcaaAgtgtgactgcagtggcataa	13	7	2	1			TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chrX:107783004A>T	ENST00000361603.2	+	2	354	c.110A>T	c.(109-111)aAg>aTg	p.K37M	COL4A5_ENST00000328300.6_Missense_Mutation_p.K37M	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	37	Nonhelical region (NC2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCAGGATCAAAGTGTGACTGC	0.353									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(109-111)aAg>aTg		collagen, type IV, alpha 5							158	140	146					X																	107783004		2203	4300	6503	SO:0001583	missense	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107783004A>T	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.110A>T	X.37:g.107783004A>T	ENSP00000354505:p.Lys37Met					COL4A5_ENST00000361603.2_Missense_Mutation_p.K37M	p.K37M	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			2	354	+			37			Nonhelical region (NC2).		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.110A>T	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	A	15.17	2.754078	0.49362	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.95949	-3.86;-3.86	4.98	4.98	0.66077	.	0.198764	0.41712	D	0.000828	D	0.96078	0.8722	L	0.46157	1.445	0.47905	D	0.999543	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	D	0.95580	0.8645	10	0.51188	T	0.08	.	10.2581	0.43410	1.0:0.0:0.0:0.0	.	37;37	E7EVY4;P29400	.;CO4A5_HUMAN	M	37	ENSP00000331902:K37M;ENSP00000354505:K37M	ENSP00000331902:K37M	K	+	2	0	COL4A5	107669660	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.752000	0.62176	1.760000	0.52011	0.481000	0.45027	AAG		0.353	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			5	168	0	0	0	1	0	5	168					T	107783004	A	T	107783004	3	4	479	1	0	0	0	0	1	0	0	0	3694	72	3	5	116	5	COL4A5	23	107783004	Missense_Mutation	SNP	A	TCGA-KS-A41L-01A-11D-A23M-08	81570737	107783004	47487556	24	9825											
LUZP4	51213	broad.mit.edu	37	chrX	114537972	114537972	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accctttaaatgggcagcctTtaattgagcaggtagataag	10	7	0	2			TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chrX:114537972T>G	ENST00000371920.3	+	3	338	c.331T>G	c.(331-333)Tta>Gta	p.L111V	LUZP4_ENST00000451986.2_Intron	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	111						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						TGGGCAGCCTTTAATTGAGCA	0.318																																						ENST00000371920.3																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						c.(331-333)Tta>Gta		leucine zipper protein 4							107	103	105					X																	114537972		2203	4300	6503	SO:0001583	missense	51213					nucleus		g.chrX:114537972T>G	AF124430	CCDS14567.1	Xq24	2009-03-25			ENSG00000102021	ENSG00000102021			24971	protein-coding gene	gene with protein product	"cancer/testis antigen 28"	300616				12032826, 11051238	Standard	XM_005268343		Approved	HOM-TES-85, CT-8, CT28	uc004eqa.3	Q9P127	OTTHUMG00000022234	ENST00000371920.3:c.331T>G	X.37:g.114537972T>G	ENSP00000360988:p.Leu111Val					LUZP4_ENST00000451986.2_Intron	p.L111V	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN			3	338	+			111					B3KSD6	Missense_Mutation	SNP	ENST00000371920.3	37	c.331T>G	CCDS14567.1	.	.	.	.	.	.	.	.	.	.	T	9.374	1.071193	0.20147	.	.	ENSG00000102021	ENST00000371920	T	0.40476	1.03	3.21	2.03	0.26663	.	.	.	.	.	T	0.23410	0.0566	N	0.14661	0.345	0.09310	N	0.999998	B	0.30146	0.27	B	0.33339	0.162	T	0.24657	-1.0154	9	0.21014	T	0.42	.	5.7883	0.18347	0.0:0.0:0.3077:0.6923	.	111	Q9P127	LUZP4_HUMAN	V	111	ENSP00000360988:L111V	ENSP00000360988:L111V	L	+	1	2	LUZP4	114444228	0.038000	0.19896	0.004000	0.12327	0.013000	0.08279	0.674000	0.25218	0.465000	0.27167	0.417000	0.27973	TTA		0.318	LUZP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057972.1	NM_016383		5	208	0	0	0	1	0	5	208					G	114537972	T	G	114537972	3	3	479	1	0	0	0	0	1	0	0	0	9088	1838	64	5	341	5	LUZP4	23	114537972	Missense_Mutation	SNP	T	TCGA-KS-A41L-01A-11D-A23M-08	6754968	114537972	40732588	25	9826											
BCORL1	63035	broad.mit.edu	37	chrX	129159215	129159215	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgcccggcaaatgtgggaCaccaatgaggaggaggagga	17	8	0	1			TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chrX:129159215C>A	ENST00000218147.7	+	7	4136	c.3939C>A	c.(3937-3939)gaC>gaA	p.D1313E	BCORL1_ENST00000540052.1_Missense_Mutation_p.D1313E|BCORL1_ENST00000303743.5_Missense_Mutation_p.D1313E|BCORL1_ENST00000359304.2_Intron			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1313					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AAATGTGGGACACCAATgagg	0.587																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(3937-3939)gaC>gaA		BCL6 corepressor-like 1							48	43	45					X																	129159215		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129159215C>A	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.3939C>A	X.37:g.129159215C>A	ENSP00000218147:p.Asp1313Glu					BCORL1_ENST00000218147.7_Missense_Mutation_p.D1313E|BCORL1_ENST00000303743.5_Missense_Mutation_p.D1313E|BCORL1_ENST00000359304.2_Intron	p.D1313E	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			6	3983	+			1313					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.3939C>A	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.888388	0.33348	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000540052;ENST00000456822	T;T;T;T	0.41400	1.0;1.33;1.0;1.43	5.61	4.75	0.60458	.	0.000000	0.38897	N	0.001536	T	0.17152	0.0412	N	0.08118	0	0.24291	N	0.995162	P;P	0.40619	0.724;0.473	B;B	0.39152	0.292;0.069	T	0.27839	-1.0062	10	0.05351	T	0.99	-16.4196	5.3528	0.16045	0.1364:0.6354:0.147:0.0812	.	1313;1313	Q5H9F3-3;Q5H9F3	.;BCORL_HUMAN	E	1313;1313;1313;913	ENSP00000218147:D1313E;ENSP00000307541:D1313E;ENSP00000437775:D1313E;ENSP00000399483:D913E	ENSP00000218147:D1313E	D	+	3	2	BCORL1	128986896	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.772000	0.26647	1.119000	0.41883	0.513000	0.50165	GAC		0.587	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		4	91	1	0	0.150653	1	0.150653	4	91					A	129159215	C	A	129159215	3	1	479	1	0	0	0	0	1	0	0	0	1387	477	17	4	3961	4	BCORL1	23	129159215	Missense_Mutation	SNP	C	TCGA-KS-A41L-01A-11D-A23M-08	14621243	129159215	26111345	26	9827											
CXorf40B	541578	broad.mit.edu	37	chrX	149101910	149101910	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atctgagcaggagtcatcccGagtctctccaccagcagctc	9	15	3	1	rs139086529	byFrequency	TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chrX:149101910G>T	ENST00000370406.3	-	4	1011	c.183C>A	c.(181-183)ctC>ctA	p.L61L	XX-FW81066F1.2_ENST00000457775.1_RNA|CXorf40B_ENST00000462691.1_Silent_p.L61L|CXorf40B_ENST00000355203.2_Silent_p.L61L|CXorf40B_ENST00000370404.1_Silent_p.L61L			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	61										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					GAGTCATCCCGAGTCTCTCCA	0.567																																						ENST00000370406.3																			0				endometrium(1)|lung(4)	5						c.(181-183)ctC>ctA		chromosome X open reading frame 40B							178	164	169					X																	149101910		2200	4300	6500	SO:0001819	synonymous_variant	541578							g.chrX:149101910G>T	BC009523	CCDS35426.1	Xq28	2012-11-28			ENSG00000197021	ENSG00000197021			17402	protein-coding gene	gene with protein product							Standard	XM_005274698		Approved		uc004fdy.3	Q96DE9	OTTHUMG00000034327	ENST00000370406.3:c.183C>A	X.37:g.149101910G>T						CXorf40B_ENST00000370404.1_Silent_p.L61L|CXorf40B_ENST00000355203.2_Silent_p.L61L|CXorf40B_ENST00000462691.1_Silent_p.L61L	p.L61L			Q96DE9	CX04B_HUMAN			4	1011	-	Acute lymphoblastic leukemia(192;6.56e-05)		61						Silent	SNP	ENST00000370406.3	37	c.183C>A	CCDS35426.1																																																																																				0.567	CXorf40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082896.2	NP_001013867		15	269	1	0	0.000422831	1	0.000479971	15	269					T	149101910	G	T	149101910	2	4	479	1	0	0	0	0	0	0	0	1	4109	1045	37	4		4	CXorf40B	23	149101910	Silent	SNP	G	TCGA-KS-A41L-01A-11D-A23M-08	19942695	149101910	6168650	27	9828											
USH2A	7399	broad.mit.edu	37	chr1	216011417	216011417	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgggttccattgcttttcAcgcaggcatatattgtgcag	10	8	1	0			TCGA-KS-A4I1-01A-11D-A257-08	TCGA-KS-A4I1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa5b5812-355d-4716-a55a-38071b50593c	f758e38b-90f4-4aea-9c72-2b506baf6678	g.chr1:216011417A>G	ENST00000307340.3	-	47	9673	c.9287T>C	c.(9286-9288)gTg>gCg	p.V3096A	USH2A_ENST00000366943.2_Missense_Mutation_p.V3096A	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3096	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTGCTTTTCACGCAGGCATA	0.368										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(9286-9288)gTg>gCg		Usher syndrome 2A (autosomal recessive, mild)							228	206	214					1																	216011417		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216011417A>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9287T>C	1.37:g.216011417A>G	ENSP00000305941:p.Val3096Ala	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.V3096A	p.V3096A			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	47	9673	-			3096			Fibronectin type-III 17.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.9287T>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	10.16	1.274008	0.23221	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.52983	0.64;0.64	5.01	-0.12	0.13539	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.368167	0.19296	N	0.117756	T	0.31638	0.0803	L	0.46157	1.445	0.39159	D	0.962363	B	0.12013	0.005	B	0.11329	0.006	T	0.33624	-0.9861	10	0.02654	T	1	.	9.3886	0.38359	0.7104:0.0:0.2896:0.0	.	3096	O75445	USH2A_HUMAN	A	3096	ENSP00000305941:V3096A;ENSP00000355910:V3096A	ENSP00000305941:V3096A	V	-	2	0	USH2A	214078040	0.902000	0.30710	0.994000	0.49952	0.325000	0.28411	1.499000	0.35671	-0.015000	0.14150	-0.290000	0.09829	GTG		0.368	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		4	140	0	0	0	1	0	4	140					G	216011417	A	G	216011417	3	3	480	1	0	0	0	0	1	0	0	0	17033	159	6	3	6425	3	USH2A	1	216011417	Missense_Mutation	SNP	A	TCGA-KS-A4I1-01A-11D-A257-08		216011417	33239204	1	9829											
NLRP3	114548	broad.mit.edu	37	chr1	247597549	247597549	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgtgtgggactgaagcaCctgttgtgcaatctgaagaa	13	7	1	3	rs200319515		TCGA-KS-A4I1-01A-11D-A257-08	TCGA-KS-A4I1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa5b5812-355d-4716-a55a-38071b50593c	f758e38b-90f4-4aea-9c72-2b506baf6678	g.chr1:247597549C>T	ENST00000336119.3	+	5	3218	c.2472C>T	c.(2470-2472)caC>caT	p.H824H	NLRP3_ENST00000391827.2_Silent_p.H767H|NLRP3_ENST00000391828.3_Silent_p.H824H|NLRP3_ENST00000348069.2_Silent_p.H767H|NLRP3_ENST00000366497.2_Silent_p.H824H|NLRP3_ENST00000366496.2_Silent_p.H824H	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	824					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GACTGAAGCACCTGTTGTGCA	0.587																																						ENST00000366497.2																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(2470-2472)caC>caT		NLR family, pyrin domain containing 3		C	,,,,	1,4405	2.1+/-5.4	0,1,2202	151	133	139		2472,2472,2301,2472,2301	-4.2	0.0	1		139	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NLRP3	NM_001079821.2,NM_001127461.2,NM_001127462.2,NM_004895.4,NM_183395.2	,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,	824/1037,824/980,767/980,824/1037,767/923	247597549	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247597549C>T	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2472C>T	1.37:g.247597549C>T						NLRP3_ENST00000336119.3_Silent_p.H824H|NLRP3_ENST00000391828.3_Silent_p.H824H|NLRP3_ENST00000348069.2_Silent_p.H767H|NLRP3_ENST00000366496.2_Silent_p.H824H|NLRP3_ENST00000391827.2_Silent_p.H767H	p.H824H	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		6	3252	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	881					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Silent	SNP	ENST00000336119.3	37	c.2472C>T	CCDS1632.1																																																																																				0.587	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		4	117	0	0	0	1	0	4	117					T	247597549	C	T	247597549	2	4	480	1	0	0	0	0	0	0	0	1	10478	506	18	2		2	NLRP3	1	247597549	Silent	SNP	C	TCGA-KS-A4I1-01A-11D-A257-08	31586132	247597549	1653072	2	9830											
ANKRD36	375248	broad.mit.edu	37	chr2	97866233	97866233	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttcgaatataaccagagAaaaaaaggatggagaaatat	8	3	0	2	rs573775748	byFrequency	TCGA-KS-A4I1-01A-11D-A257-08	TCGA-KS-A4I1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa5b5812-355d-4716-a55a-38071b50593c	f758e38b-90f4-4aea-9c72-2b506baf6678	g.chr2:97866233A>G	ENST00000461153.2	+	46	3072	c.2828A>G	c.(2827-2829)gAa>gGa	p.E943G	ANKRD36_ENST00000420699.2_Missense_Mutation_p.E943G			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	943										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						ATAACCAGAGAAAAAAAGGAT	0.333													.|||	16	0.00319489	0	0	5008	,	,		29505	0.0159		0	False		,,,				2504	0					ENST00000420699.2																			0				endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(2827-2829)gAa>gGa		ankyrin repeat domain 36							120	124	123					2																	97866233		692	1591	2283	SO:0001583	missense	375248							g.chr2:97866233A>G	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2828A>G	2.37:g.97866233A>G	ENSP00000419530:p.Glu943Gly					ANKRD36_ENST00000461153.2_Missense_Mutation_p.E943G	p.E943G	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			46	3072	+			943					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.2828A>G	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	10.06	1.246417	0.22796	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.78816	-1.21;-1.21	0.85	-0.345	0.12624	.	.	.	.	.	T	0.51261	0.1664	N	0.04636	-0.2	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38929	-0.9638	9	0.52906	T	0.07	.	3.2628	0.06854	0.3476:0.0:0.6524:0.0	.	943	A6QL64	AN36A_HUMAN	G	943;943;305	ENSP00000419530:E943G;ENSP00000391950:E943G	ENSP00000391950:E943G	E	+	2	0	ANKRD36	97229960	0.001000	0.12720	0.005000	0.12908	0.004000	0.04260	-0.388000	0.07352	-0.094000	0.12374	0.136000	0.15936	GAA		0.333	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			7	10	0	0	0	1	0	7	10					G	97866233	A	G	97866233	3	3	480	1	0	0	0	0	1	0	0	0	665	246	9	3	3010	3	ANKRD36	2	97866233	Missense_Mutation	SNP	A	TCGA-KS-A4I1-01A-11D-A257-08		97866233	145333140	3	9831											
SCN11A	11280	broad.mit.edu	37	chr3	38991659	38991659	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcacgaggaatgtcgccataGagcttgggcaacttcctgga	12	10	1	1			TCGA-KS-A4I1-01A-11D-A257-08	TCGA-KS-A4I1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa5b5812-355d-4716-a55a-38071b50593c	f758e38b-90f4-4aea-9c72-2b506baf6678	g.chr3:38991659G>T	ENST00000302328.3	-	1	393	c.195C>A	c.(193-195)ctC>ctA	p.L65L	SCN11A_ENST00000450244.1_Silent_p.L65L|SCN11A_ENST00000444237.2_Silent_p.L65L|SCN11A_ENST00000456224.3_Silent_p.L65L	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	65					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGTCGCCATAGAGCTTGGGCA	0.532																																						ENST00000302328.3																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(193-195)ctC>ctA		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						133	133	133					3																	38991659		2203	4300	6503	SO:0001819	synonymous_variant	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38991659G>T	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.195C>A	3.37:g.38991659G>T						SCN11A_ENST00000456224.3_Silent_p.L65L|SCN11A_ENST00000450244.1_Silent_p.L65L|SCN11A_ENST00000444237.2_Silent_p.L65L	p.L65L	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	1	393	-			65					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Silent	SNP	ENST00000302328.3	37	c.195C>A	CCDS33737.1																																																																																				0.532	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		4	185	1	0	0.150653	1	0.154725	4	185					T	38991659	G	T	38991659	2	4	480	1	0	0	0	0	0	0	0	1	13913	929	33	4		4	SCN11A	3	38991659	Silent	SNP	G	TCGA-KS-A4I1-01A-11D-A257-08		38991659	159030771	4	9832											
JAKMIP1	152789	broad.mit.edu	37	chr4	6083476	6083476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctcggtctctcgtgagcGtttcagctgtggttggaaac	12	10	2	1			TCGA-KS-A4I1-01A-11D-A257-08	TCGA-KS-A4I1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa5b5812-355d-4716-a55a-38071b50593c	f758e38b-90f4-4aea-9c72-2b506baf6678	g.chr4:6083476G>A	ENST00000282924.5	-	6	1446	c.961C>T	c.(961-963)Cgc>Tgc	p.R321C	JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409021.3_Missense_Mutation_p.R321C|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R321C|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.R156C|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.R156C	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	321	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCTCGTGAGCGTTTCAGCTGT	0.542																																						ENST00000409021.3																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(961-963)Cgc>Tgc		janus kinase and microtubule interacting protein 1							89	88	88					4																	6083476		2203	4300	6503	SO:0001583	missense	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6083476G>A	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.961C>T	4.37:g.6083476G>A	ENSP00000282924:p.Arg321Cys					JAKMIP1_ENST00000410077.2_Missense_Mutation_p.R156C|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.R321C|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.R156C|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R321C	p.R321C	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN			6	1410	-			321			Mediates association with microtubules.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000282924.5	37	c.961C>T	CCDS3385.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600087	0.87055	.	.	ENSG00000152969	ENST00000409021;ENST00000409371;ENST00000418227;ENST00000425341;ENST00000429819;ENST00000282924;ENST00000409831;ENST00000410077	T;T;T;T;T	0.40756	1.34;1.06;1.34;1.34;1.02	4.41	4.41	0.53225	.	0.000000	0.64402	D	0.000004	T	0.66781	0.2824	M	0.79926	2.475	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.999	D;P;D;D;P	0.85130	0.996;0.855;0.996;0.997;0.855	T	0.73398	-0.3995	10	0.87932	D	0	.	16.3932	0.83546	0.0:0.0:1.0:0.0	.	156;321;156;321;321	B4DHZ8;F2Z2K5;Q96N16-5;Q96N16-2;Q96N16	.;.;.;.;JKIP1_HUMAN	C	321;156;321;321;213;321;321;156	ENSP00000386711:R321C;ENSP00000387042:R156C;ENSP00000282924:R321C;ENSP00000386925:R321C;ENSP00000386745:R156C	ENSP00000282924:R321C	R	-	1	0	JAKMIP1	6134377	1.000000	0.71417	0.995000	0.50966	0.897000	0.52465	9.077000	0.94016	2.185000	0.69588	0.555000	0.69702	CGC		0.542	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		35	49	0	0	0	1	0	35	49					A	6083476	G	A	6083476	3	1	480	1	0	0	0	0	1	0	0	0	7940	1145	40	1	1673	1	JAKMIP1	4	6083476	Missense_Mutation	SNP	G	TCGA-KS-A4I1-01A-11D-A257-08		6083476	185070800	5	9833											
DRD5	1816	broad.mit.edu	37	chr4	9783834	9783834	+	Missense_Mutation	SNP	G	G	A													ccctgctgggcaacgtgctgGtgtgcgcagccatcgtgcgg					rs113223975		TCGA-KS-A4I1-01A-11D-A257-08	TCGA-KS-A4I1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa5b5812-355d-4716-a55a-38071b50593c	f758e38b-90f4-4aea-9c72-2b506baf6678	g.chr4:9783834G>A	ENST00000304374.2	+	1	577	c.181G>A	c.(181-183)Gtg>Atg	p.V61M		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	61					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CAACGTGCTGGTGTGCGCAGC	0.672																																						ENST00000304374.2																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(181-183)Gtg>Atg		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						29	24	26					4																	9783834		2203	4299	6502	SO:0001583	missense	0				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9783834G>A	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"GPCR / Class A : Dopamine receptors"	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.181G>A	4.37:g.9783834G>A	ENSP00000306129:p.Val61Met						p.V61M	NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN			1	577	+			61					B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.181G>A	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	g	16.10	3.026645	0.54683	.	.	ENSG00000169676	ENST00000304374	D	0.84800	-1.9	3.87	3.87	0.44632	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.95191	0.8441	H	0.98901	4.365	0.58432	D	0.999999	D	0.63880	0.993	D	0.65773	0.938	D	0.97223	0.9879	10	0.87932	D	0	.	14.9917	0.71393	0.0:0.0:1.0:0.0	.	61	P21918	DRD5_HUMAN	M	61	ENSP00000306129:V61M	ENSP00000306129:V61M	V	+	1	0	DRD5	9392932	1.000000	0.71417	1.000000	0.80357	0.316000	0.28119	7.385000	0.79763	1.982000	0.57802	0.305000	0.20034	GTG		0.672	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			4	48	0	0	0	1	0	4	48					A	9783834	G	A	9783834	3	1	480	1	0	0	0	0	1	0	0	0	4760	1261	44	2	183	2	DRD5	4	9783834	Missense_Mutation	SNP	G	TCGA-KS-A4I1-01A-11D-A257-08	3700358	9783834	181370442	6	9834	55	2									
DRD5	1816	broad.mit.edu	37	chr4	9783838	9783838	+	Missense_Mutation	SNP	G	G	C													gctgggcaacgtgctggtgtGcgcagccatcgtgcggagcc					rs2227840	byFrequency	TCGA-KS-A4I1-01A-11D-A257-08	TCGA-KS-A4I1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa5b5812-355d-4716-a55a-38071b50593c	f758e38b-90f4-4aea-9c72-2b506baf6678	g.chr4:9783838G>C	ENST00000304374.2	+	1	581	c.185G>C	c.(184-186)tGc>tCc	p.C62S		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	62			C -> S (in dbSNP:rs2227840).		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GTGCTGGTGTGCGCAGCCATC	0.662																																						ENST00000304374.2																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(184-186)tGc>tCc		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						30	24	26					4																	9783838		2203	4299	6502	SO:0001583	missense	0				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9783838G>C	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"GPCR / Class A : Dopamine receptors"	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.185G>C	4.37:g.9783838G>C	ENSP00000306129:p.Cys62Ser						p.C62S	NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN			1	581	+			62		C -> S (in dbSNP:rs2227840).			B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.185G>C	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	g	15.32	2.798139	0.50208	.	.	ENSG00000169676	ENST00000304374	T	0.73047	-0.71	3.87	3.87	0.44632	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.80959	0.4724	M	0.91717	3.235	0.80722	D	1	P	0.47034	0.889	P	0.47786	0.557	D	0.86816	0.2001	10	0.87932	D	0	.	14.9917	0.71393	0.0:0.0:1.0:0.0	rs2227840	62	P21918	DRD5_HUMAN	S	62	ENSP00000306129:C62S	ENSP00000306129:C62S	C	+	2	0	DRD5	9392936	1.000000	0.71417	0.922000	0.36590	0.290000	0.27261	9.199000	0.95003	1.982000	0.57802	0.305000	0.20034	TGC		0.662	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			4	50	0	0	0	1	0	4	50					C	9783838	G	C	9783838	3	2	480	1	0	0	0	0	1	0	0	0	4760	1319	46	4	187	4	DRD5	4	9783838	Missense_Mutation	SNP	G	TCGA-KS-A4I1-01A-11D-A257-08	4	9783838	181370438	7	9835	55	2									
SLIT2	9353	broad.mit.edu	37	chr4	20490475	20490475	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaacctgtattgtgactgCcacctggcctggctctccga	9	14	1	1			TCGA-KS-A4I1-01A-11D-A257-08	TCGA-KS-A4I1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa5b5812-355d-4716-a55a-38071b50593c	f758e38b-90f4-4aea-9c72-2b506baf6678	g.chr4:20490475C>T	ENST00000504154.1	+	8	897	c.645C>T	c.(643-645)tgC>tgT	p.C215C	SLIT2_ENST00000503837.1_Silent_p.C215C|SLIT2_ENST00000273739.5_Silent_p.C215C|SLIT2_ENST00000503823.1_Silent_p.C215C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	215	LRRCT 1.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATTGTGACTGCCACCTGGCCT	0.473																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(643-645)tgC>tgT		slit homolog 2 (Drosophila)							156	167	163					4																	20490475		2203	4300	6503	SO:0001819	synonymous_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20490475C>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.645C>T	4.37:g.20490475C>T						SLIT2_ENST00000503837.1_Silent_p.C215C|SLIT2_ENST00000503823.1_Silent_p.C215C|SLIT2_ENST00000273739.5_Silent_p.C215C	p.C215C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			8	897	+			215			LRRCT 1.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	c.645C>T	CCDS3426.1																																																																																				0.473	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			89	154	0	0	0	1	0	89	154					T	20490475	C	T	20490475	2	4	480	1	0	0	0	0	0	0	0	1	14740	747	26	2		2	SLIT2	4	20490475	Silent	SNP	C	TCGA-KS-A4I1-01A-11D-A257-08	10706637	20490475	170663801	8	9836											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-KS-A4I1-01A-11D-A257-08	TCGA-KS-A4I1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa5b5812-355d-4716-a55a-38071b50593c	f758e38b-90f4-4aea-9c72-2b506baf6678	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		42	47	0	0	0	1	0	42	47					T	140453136	A	T	140453136	3	4	480	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-KS-A4I1-01A-11D-A257-08		140453136	18685527	9	9837											
C15orf41	84529	broad.mit.edu	37	chr15	37002124	37002124	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgatgaatgtagccaccaCgcctacctgcatgaccagtt	10	12	0	3	rs578121665		TCGA-KS-A4I1-01A-11D-A257-08	TCGA-KS-A4I1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa5b5812-355d-4716-a55a-38071b50593c	f758e38b-90f4-4aea-9c72-2b506baf6678	g.chr15:37002124C>T	ENST00000566621.1	+	10	928	c.678C>T	c.(676-678)caC>caT	p.H226H	C15orf41_ENST00000569302.1_Silent_p.H232H|C15orf41_ENST00000565792.1_3'UTR|C15orf41_ENST00000562877.1_Silent_p.H128H|C15orf41_ENST00000567389.1_Silent_p.H128H|C15orf41_ENST00000562489.1_Silent_p.H50H|C15orf41_ENST00000437989.2_Silent_p.H226H|C15orf41_ENST00000338183.4_Silent_p.H128H	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	226										kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		GTAGCCACCACGCCTACCTGC	0.393													c|||	1	0.000199681	8e-04	0	5008	,	,		17949	0		0	False		,,,				2504	0					ENST00000566621.1																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12						c.(676-678)caC>caT		chromosome 15 open reading frame 41							137	128	131					15																	37002124		1883	4110	5993	SO:0001819	synonymous_variant	84529						protein binding	g.chr15:37002124C>T	BC006254	CCDS45215.1, CCDS45216.1	15q14	2012-05-31			ENSG00000186073	ENSG00000186073			26929	protein-coding gene	gene with protein product		615626					Standard	XM_005254719		Approved	HH114, MGC11326, FLJ22851	uc001zje.4	Q9Y2V0	OTTHUMG00000172659	ENST00000566621.1:c.678C>T	15.37:g.37002124C>T						C15orf41_ENST00000569302.1_Silent_p.H232H|C15orf41_ENST00000437989.2_Silent_p.H226H|C15orf41_ENST00000567389.1_Silent_p.H128H|C15orf41_ENST00000562489.1_Silent_p.H50H|C15orf41_ENST00000562877.1_Silent_p.H128H|C15orf41_ENST00000338183.4_Silent_p.H128H|C15orf41_ENST00000565792.1_3'UTR	p.H226H	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)	10	928	+		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)	226					B2RD87	Silent	SNP	ENST00000566621.1	37	c.678C>T	CCDS45215.1																																																																																				0.393	C15orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419741.1	NM_032499		8	134	0	0	0	1	0	8	134					T	37002124	C	T	37002124	2	4	480	1	0	0	0	0	0	0	0	1	1795	535	19	1		1	C15orf41	15	37002124	Silent	SNP	C	TCGA-KS-A4I1-01A-11D-A257-08		37002124	65529268	10	9838											
TLE3	7090	broad.mit.edu	37	chr15	70366914	70366914	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcatggtgacctgcttggcGcgctccactgcctgcgccac	12	16	1	1	rs376875838		TCGA-KS-A4I1-01A-11D-A257-08	TCGA-KS-A4I1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa5b5812-355d-4716-a55a-38071b50593c	f758e38b-90f4-4aea-9c72-2b506baf6678	g.chr15:70366914G>A	ENST00000558939.1	-	6	1707	c.330C>T	c.(328-330)cgC>cgT	p.R110R	TLE3_ENST00000560939.1_Silent_p.R116R|TLE3_ENST00000440567.3_Silent_p.R103R|TLE3_ENST00000558379.1_Silent_p.R110R|TLE3_ENST00000559048.1_Silent_p.R116R|TLE3_ENST00000560589.1_Silent_p.R54R|TLE3_ENST00000451782.2_Silent_p.R110R|TLE3_ENST00000558201.1_Silent_p.R116R|TLE3_ENST00000539550.1_Silent_p.R44R|TLE3_ENST00000442299.2_Silent_p.R110R|TLE3_ENST00000557997.1_Silent_p.R110R|TLE3_ENST00000559929.1_Silent_p.R110R|TLE3_ENST00000557907.1_Silent_p.R110R|TLE3_ENST00000317509.8_Silent_p.R110R|TLE3_ENST00000559191.1_Intron	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	110	Gln-rich.				Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCTGCTTGGCGCGCTCCACTG	0.587																																						ENST00000558939.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(328-330)cgC>cgT		transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)		G	,,	0,4384		0,0,2192	65	72	69		330,330,330	-5.6	1.0	15		69	1,8581		0,1,4290	no	coding-synonymous,coding-synonymous,coding-synonymous	TLE3	NM_001105192.1,NM_005078.2,NM_020908.1	,,	0,1,6482	AA,AG,GG		0.0117,0.0,0.0077	,,	110/770,110/773,110/761	70366914	1,12965	2192	4291	6483	SO:0001819	synonymous_variant	7090				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	g.chr15:70366914G>A	M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"WD repeat domain containing"	11839	protein-coding gene	gene with protein product		600190	"transducin-like enhancer of split 3, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.330C>T	15.37:g.70366914G>A						TLE3_ENST00000558379.1_Silent_p.R110R|TLE3_ENST00000451782.2_Silent_p.R110R|TLE3_ENST00000560939.1_Silent_p.R116R|TLE3_ENST00000559929.1_Silent_p.R110R|TLE3_ENST00000559048.1_Silent_p.R116R|TLE3_ENST00000557997.1_Silent_p.R110R|TLE3_ENST00000317509.8_Silent_p.R110R|TLE3_ENST00000442299.2_Silent_p.R110R|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000558201.1_Silent_p.R116R|TLE3_ENST00000560589.1_Silent_p.R54R|TLE3_ENST00000557907.1_Silent_p.R110R|TLE3_ENST00000440567.3_Silent_p.R103R|TLE3_ENST00000539550.1_Silent_p.R44R	p.R110R			Q04726	TLE3_HUMAN			6	1707	-			110			Gln-rich.		B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Silent	SNP	ENST00000558939.1	37	c.330C>T	CCDS45293.1																																																																																				0.587	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	NM_005078		15	9	0	0	0	1	0	15	9					A	70366914	G	A	70366914	2	1	480	1	0	0	0	0	0	0	0	1	15937	1074	38	1		1	TLE3	15	70366914	Silent	SNP	G	TCGA-KS-A4I1-01A-11D-A257-08	33364790	70366914	32164478	11	9839											
MSLN	10232	broad.mit.edu	37	chr16	814961	814961	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgtttcttctcccgcatcacGaaggccaatgtggacctgct	9	14	3	0	rs371797682		TCGA-KS-A4I1-01A-11D-A257-08	TCGA-KS-A4I1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa5b5812-355d-4716-a55a-38071b50593c	f758e38b-90f4-4aea-9c72-2b506baf6678	g.chr16:814961G>A	ENST00000382862.3	+	7	530	c.435G>A	c.(433-435)acG>acA	p.T145T	MSLN_ENST00000545450.2_Silent_p.T145T|MSLN_ENST00000566549.1_Silent_p.T145T|MSLN_ENST00000563941.1_Silent_p.T145T	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	145					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CCCGCATCACGAAGGCCAATG	0.701																																						ENST00000566549.1																			0				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20						c.(433-435)acG>acA		mesothelin		G	,,	1,4361	2.1+/-5.4	0,1,2180	30	31	30		435,435,435	-5.0	0.0	16		30	0,8584		0,0,4292	no	coding-synonymous,coding-synonymous,coding-synonymous	MSLN	NM_001177355.1,NM_005823.5,NM_013404.4	,,	0,1,6472	AA,AG,GG		0.0,0.0229,0.0077	,,	145/623,145/623,145/631	814961	1,12945	2181	4292	6473	SO:0001819	synonymous_variant	10232				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		g.chr16:814961G>A	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.435G>A	16.37:g.814961G>A						MSLN_ENST00000382862.3_Silent_p.T145T|MSLN_ENST00000563941.1_Silent_p.T145T|MSLN_ENST00000545450.2_Silent_p.T145T	p.T145T			Q13421	MSLN_HUMAN			7	852	+		Hepatocellular(780;0.00335)	145					D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Silent	SNP	ENST00000382862.3	37	c.435G>A	CCDS32356.1																																																																																				0.701	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2			13	31	0	0	0	1	0	13	31					A	814961	G	A	814961	2	1	480	1	0	0	0	0	0	0	0	1	9881	1045	37	1		1	MSLN	16	814961	Silent	SNP	G	TCGA-KS-A4I1-01A-11D-A257-08		814961	89539792	12	9840											
ITGAX	3687	broad.mit.edu	37	chr16	31391686	31391686	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaagggcaacctcagctttGgctgggtccgccaggtgtgt	15	10	1	1			TCGA-KS-A4I1-01A-11D-A257-08	TCGA-KS-A4I1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa5b5812-355d-4716-a55a-38071b50593c	f758e38b-90f4-4aea-9c72-2b506baf6678	g.chr16:31391686G>T	ENST00000268296.4	+	27	3281	c.3160G>T	c.(3160-3162)Ggc>Tgc	p.G1054C	ITGAX_ENST00000562522.1_Missense_Mutation_p.G1054C	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	1054					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCTCAGCTTTGGCTGGGTCCG	0.652																																						ENST00000268296.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(3160-3162)Ggc>Tgc		integrin, alpha X (complement component 3 receptor 4 subunit)							44	36	39					16																	31391686		2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31391686G>T	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"CD molecules", "Complement system", "Integrins"	6152	protein-coding gene	gene with protein product		151510	"integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.3160G>T	16.37:g.31391686G>T	ENSP00000268296:p.Gly1054Cys					ITGAX_ENST00000562522.1_Missense_Mutation_p.G1054C	p.G1054C	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN			27	3281	+			1054					Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.3160G>T	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.731515	0.30684	.	.	ENSG00000140678	ENST00000268296	T	0.50813	0.73	4.49	2.53	0.30540	.	.	.	.	.	T	0.62816	0.2459	M	0.76002	2.32	0.29298	N	0.868902	D;D	0.89917	1.0;0.999	D;D	0.70227	0.968;0.938	T	0.55792	-0.8085	9	0.56958	D	0.05	.	6.7273	0.23363	0.2125:0.0:0.7875:0.0	.	1054;239	P20702;Q8TES5	ITAX_HUMAN;.	C	1054	ENSP00000268296:G1054C	ENSP00000268296:G1054C	G	+	1	0	ITGAX	31299187	0.001000	0.12720	0.687000	0.30102	0.197000	0.23852	0.110000	0.15437	0.630000	0.30394	-0.229000	0.12294	GGC		0.652	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		3	36	1	0	1	1	1	3	36					T	31391686	G	T	31391686	3	4	480	1	0	0	0	0	1	0	0	0	7889	1348	47	4	3266	4	ITGAX	16	31391686	Missense_Mutation	SNP	G	TCGA-KS-A4I1-01A-11D-A257-08	30576725	31391686	58963067	13	9841											
PCDH11X	27328	broad.mit.edu	37	chrX	91132473	91132473	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttcagattaaggccagtaTtcagtaatcagttcctcctg	7	10	3	1			TCGA-KS-A4I1-01A-11D-A257-08	TCGA-KS-A4I1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa5b5812-355d-4716-a55a-38071b50593c	f758e38b-90f4-4aea-9c72-2b506baf6678	g.chrX:91132473T>C	ENST00000373094.1	+	2	2079	c.1234T>C	c.(1234-1236)Ttc>Ctc	p.F412L	PCDH11X_ENST00000373097.1_Missense_Mutation_p.F412L|PCDH11X_ENST00000373088.1_Missense_Mutation_p.F412L|PCDH11X_ENST00000361724.1_Missense_Mutation_p.F412L|PCDH11X_ENST00000406881.1_Missense_Mutation_p.F412L|PCDH11X_ENST00000298274.8_Missense_Mutation_p.F412L|PCDH11X_ENST00000395337.2_Missense_Mutation_p.F412L|PCDH11X_ENST00000504220.2_Missense_Mutation_p.F412L|PCDH11X_ENST00000361655.2_Missense_Mutation_p.F412L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	412	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AAGGCCAGTATTCAGTAATCA	0.438																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(1234-1236)Ttc>Ctc		protocadherin 11 X-linked							177	147	157					X																	91132473		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91132473T>C	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1234T>C	X.37:g.91132473T>C	ENSP00000362186:p.Phe412Leu					PCDH11X_ENST00000373097.1_Missense_Mutation_p.F412L|PCDH11X_ENST00000361724.1_Missense_Mutation_p.F412L|PCDH11X_ENST00000361655.2_Missense_Mutation_p.F412L|PCDH11X_ENST00000395337.2_Missense_Mutation_p.F412L|PCDH11X_ENST00000298274.8_Missense_Mutation_p.F412L|PCDH11X_ENST00000504220.1_Missense_Mutation_p.F412L|PCDH11X_ENST00000406881.1_Missense_Mutation_p.F412L|PCDH11X_ENST00000373088.1_Missense_Mutation_p.F412L	p.F412L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			2	2079	+			412			Cadherin 4.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.1234T>C	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	T	15.05	2.716833	0.48622	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3;0.3;0.3;0.3;0.3	5.16	5.16	0.70880	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.65637	0.2710	L	0.41632	1.29	0.52501	D	0.999955	D;B;D;D;D;D;D;D	0.63880	0.991;0.189;0.991;0.991;0.991;0.993;0.991;0.982	P;B;P;P;P;D;P;P	0.64410	0.877;0.155;0.877;0.877;0.877;0.925;0.835;0.73	T	0.66870	-0.5814	10	0.51188	T	0.08	.	13.1413	0.59436	0.0:0.0:0.0:1.0	.	412;412;412;412;412;412;412;412	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	L	412	ENSP00000378746:F412L;ENSP00000362186:F412L;ENSP00000362189:F412L;ENSP00000355040:F412L;ENSP00000362180:F412L;ENSP00000423762:F412L;ENSP00000355105:F412L;ENSP00000384758:F412L;ENSP00000298274:F412L	ENSP00000298274:F412L	F	+	1	0	PCDH11X	91019129	1.000000	0.71417	0.983000	0.44433	0.977000	0.68977	7.754000	0.85163	1.695000	0.51148	0.441000	0.28932	TTC		0.438	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		8	193	0	0	0	1	0	8	193					C	91132473	T	C	91132473	3	2	480	1	0	0	0	0	1	0	0	0	11508	1493	52	3	1240	3	PCDH11X	23	91132473	Missense_Mutation	SNP	T	TCGA-KS-A4I1-01A-11D-A257-08		91132473	64138087	14	9842											
TMLHE	55217	broad.mit.edu	37	chrX	154774817	154774817	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttggaggctgtatggtgccAatggacagctaaaggaagta	14	6	0	0			TCGA-KS-A4I1-01A-11D-A257-08	TCGA-KS-A4I1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa5b5812-355d-4716-a55a-38071b50593c	f758e38b-90f4-4aea-9c72-2b506baf6678	g.chrX:154774817A>C	ENST00000334398.3	-	2	266	c.121T>G	c.(121-123)Tgg>Ggg	p.W41G	TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Missense_Mutation_p.W41G	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	41					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|trimethyllysine dioxygenase activity (GO:0050353)			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	GTATGGTGCCAATGGACAGCT	0.463																																						ENST00000334398.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(121-123)Tgg>Ggg		trimethyllysine hydroxylase, epsilon	Succinic acid(DB00139)|Vitamin C(DB00126)						114	98	103					X																	154774817		2202	4292	6494	SO:0001583	missense	55217				carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity	g.chrX:154774817A>C	AF373407, X97513	CCDS14768.1, CCDS55547.1	Xq28	2006-07-14			ENSG00000185973	ENSG00000185973			18308	protein-coding gene	gene with protein product	"butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2"	300777				8908511, 11431483	Standard	NM_018196		Approved	TMLH, FLJ10727, BBOX2, XAP130	uc004fnn.3	Q9NVH6	OTTHUMG00000022674	ENST00000334398.3:c.121T>G	X.37:g.154774817A>C	ENSP00000335261:p.Trp41Gly					TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Missense_Mutation_p.W41G	p.W41G	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN			2	266	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		41					A8K6M9|B4E3R3|Q5TZB5|Q6IA90|Q8TBT0	Missense_Mutation	SNP	ENST00000334398.3	37	c.121T>G	CCDS14768.1	.	.	.	.	.	.	.	.	.	.	A	2.182	-0.387410	0.04932	.	.	ENSG00000185973	ENST00000334398;ENST00000369439	D;T	0.82619	-1.63;-1.1	4.04	7.14E-4	0.14043	.	0.483471	0.21317	N	0.076531	T	0.67487	0.2898	L	0.41236	1.265	0.09310	N	0.999997	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.09377	0.004;0.0;0.0	T	0.48927	-0.8991	10	0.26408	T	0.33	0.0072	0.793	0.01061	0.477:0.2042:0.1177:0.201	.	41;41;41	Q9NVH6-2;A8K6M9;Q9NVH6	.;.;TMLH_HUMAN	G	41	ENSP00000335261:W41G;ENSP00000358447:W41G	ENSP00000335261:W41G	W	-	1	0	TMLHE	154428011	0.964000	0.33143	0.018000	0.16275	0.012000	0.07955	0.653000	0.24902	-0.171000	0.10797	0.412000	0.27726	TGG		0.463	TMLHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058817.1	NM_018196		49	63	0	0	0	1	0	49	63					C	154774817	A	C	154774817	3	2	480	1	0	0	0	0	1	0	0	0	16229	130	5	5	1312	5	TMLHE	23	154774817	Missense_Mutation	SNP	A	TCGA-KS-A4I1-01A-11D-A257-08	63642344	154774817	495743	15	9843											
RPTN	126638	broad.mit.edu	37	chr1	152128186	152128186	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtctgtctgtctgaccAtagtgggaactctggccttg	11	11	4	1			TCGA-KS-A4I3-01A-11D-A257-08	TCGA-KS-A4I3-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a14b60c-27c5-4e97-908f-e727044d75b1	bbddd5b2-b8b0-4d56-97c3-5a2aefb16746	g.chr1:152128186A>G	ENST00000316073.3	-	3	1453	c.1389T>C	c.(1387-1389)taT>taC	p.Y463Y		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	463	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGTCTGACCATAGTGGGAAC	0.512																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1387-1389)taT>taC		repetin							788	697	725					1																	152128186		1568	3582	5150	SO:0001819	synonymous_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128186A>G	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1389T>C	1.37:g.152128186A>G							p.Y463Y	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1453	-			463			Gln-rich.		B7ZBZ3	Silent	SNP	ENST00000316073.3	37	c.1389T>C	CCDS41397.1																																																																																				0.512	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		10	962	0	0	0	1	0	10	962					G	152128186	A	G	152128186	2	3	481	1	0	0	0	0	0	0	0	1	13664	224	8	3		3	RPTN	1	152128186	Silent	SNP	A	TCGA-KS-A4I3-01A-11D-A257-08		152128186	97122435	1	9844											
DOCK2	1794	broad.mit.edu	37	chr5	169503024	169503024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgcgacccttccatgaccGgatggaggaatgtttcaaga	11	10	1	2			TCGA-KS-A4I3-01A-11D-A257-08	TCGA-KS-A4I3-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a14b60c-27c5-4e97-908f-e727044d75b1	bbddd5b2-b8b0-4d56-97c3-5a2aefb16746	g.chr5:169503024G>A	ENST00000256935.8	+	47	4882	c.4802G>A	c.(4801-4803)cGg>cAg	p.R1601Q	DOCK2_ENST00000520908.1_Missense_Mutation_p.R1093Q|DOCK2_ENST00000540750.1_Missense_Mutation_p.R662Q|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1601	DHR-2.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCCATGACCGGATGGAGGAA	0.493																																						ENST00000256935.8																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(4801-4803)cGg>cAg		dedicator of cytokinesis 2							152	148	149					5																	169503024		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169503024G>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4802G>A	5.37:g.169503024G>A	ENSP00000256935:p.Arg1601Gln					DOCK2_ENST00000540750.1_Missense_Mutation_p.R662Q|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.R1093Q	p.R1601Q	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		47	4882	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1601			DHR-2.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.4802G>A	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.533988	0.85812	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.16897	2.31;2.31;2.31	5.18	5.18	0.71444	Cytochrome c domain (1);	0.134965	0.51477	D	0.000089	T	0.24661	0.0598	M	0.85462	2.755	0.52099	D	0.999948	P;B;B	0.37985	0.613;0.395;0.029	B;B;B	0.27887	0.017;0.084;0.007	T	0.17837	-1.0356	10	0.30854	T	0.27	.	19.1283	0.93394	0.0:0.0:1.0:0.0	.	1093;157;1601	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	Q	1601;1093;662	ENSP00000256935:R1601Q;ENSP00000429283:R1093Q;ENSP00000438827:R662Q	ENSP00000256935:R1601Q	R	+	2	0	DOCK2	169435602	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.747000	0.98863	2.598000	0.87819	0.650000	0.86243	CGG		0.493	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		4	84	0	0	0	1	0	4	84					A	169503024	G	A	169503024	3	1	481	1	0	0	0	0	1	0	0	0	4687	1116	39	1	4988	1	DOCK2	5	169503024	Missense_Mutation	SNP	G	TCGA-KS-A4I3-01A-11D-A257-08		169503024	11412236	2	9845											
NT5C3	51251	broad.mit.edu	37	chr7	33055412	33055412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagttgattgaaatattctGtattcctcaaggcaccatca	6	8	3	2			TCGA-KS-A4I3-01A-11D-A257-08	TCGA-KS-A4I3-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a14b60c-27c5-4e97-908f-e727044d75b1	bbddd5b2-b8b0-4d56-97c3-5a2aefb16746	g.chr7:33055412G>A	ENST00000242210.7	-	8	855	c.779C>T	c.(778-780)aCa>aTa	p.T260I	NT5C3A_ENST00000610140.1_Missense_Mutation_p.T255I|NT5C3A_ENST00000396152.2_Missense_Mutation_p.T221I|AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000381626.2_Missense_Mutation_p.T209I|NT5C3A_ENST00000409467.1_Missense_Mutation_p.T209I|NT5C3A_ENST00000405342.1_Missense_Mutation_p.T221I	NM_001002009.2|NM_001002010.2	NP_001002009.1|NP_001002010.1	Q9H0P0	5NT3A_HUMAN	5'-nucleotidase, cytosolic IIIA	260					dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside metabolic process (GO:0006213)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	2'-phosphotransferase activity (GO:0008665)|5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)										GAAATATTCTGTATTCCTCAA	0.368																																						ENST00000396152.2																			0											c.(661-663)aCa>aTa		5'-nucleotidase, cytosolic IIIA							64	65	65					7																	33055412		2203	4299	6502	SO:0001583	missense	51251							g.chr7:33055412G>A	AF312735	CCDS34616.1, CCDS34617.1, CCDS55101.1	7p14.3	2013-03-06	2013-03-06	2013-03-06	ENSG00000122643	ENSG00000122643	3.1.3.5		17820	protein-coding gene	gene with protein product	"lupin"	606224	"5'-nucleotidase, cytosolic III"	NT5C3		11042152, 10942414	Standard	NM_001002010		Approved	UMPH1, PSN1, PN-I, UMPH, P5'N-1, cN-III, p36, POMP, hUMP1	uc003tdk.4	Q9H0P0	OTTHUMG00000152983	ENST00000242210.7:c.779C>T	7.37:g.33055412G>A	ENSP00000242210:p.Thr260Ile					AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000381626.2_Missense_Mutation_p.T209I|NT5C3A_ENST00000409467.1_Missense_Mutation_p.T209I|NT5C3A_ENST00000405342.1_Missense_Mutation_p.T221I|NT5C3A_ENST00000242210.7_Missense_Mutation_p.T260I	p.T221I	NM_016489.12	NP_057573.2					9	964	-								A8K253|B2RAA5|B8ZZC4|Q6IPZ1|Q6NXS6|Q7L3G6|Q9P0P5|Q9UC42|Q9UC43|Q9UC44|Q9UC45	Missense_Mutation	SNP	ENST00000242210.7	37	c.662C>T	CCDS34616.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420405	0.83559	.	.	ENSG00000122643	ENST00000381626;ENST00000396152;ENST00000242210;ENST00000405342;ENST00000409467	D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61	5.65	4.75	0.60458	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.90061	0.6896	M	0.78637	2.42	0.80722	D	1	D;D	0.65815	0.995;0.994	P;P	0.62491	0.903;0.755	D	0.90944	0.4800	10	0.56958	D	0.05	.	16.4598	0.84032	0.0:0.1313:0.8686:0.0	.	260;221	Q9H0P0;Q9H0P0-1	5NT3_HUMAN;.	I	209;221;260;221;209	ENSP00000371039:T209I;ENSP00000379456:T221I;ENSP00000242210:T260I;ENSP00000385261:T221I;ENSP00000387166:T209I	ENSP00000242210:T260I	T	-	2	0	NT5C3	33021937	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.692000	0.98682	1.346000	0.45694	0.655000	0.94253	ACA		0.368	NT5C3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328880.1	NM_016489		3	27	0	0	0	1	0	3	27					A	33055412	G	A	33055412	3	1	481	1	0	0	0	0	1	0	0	0	10688	1377	48	2	239	2	NT5C3	7	33055412	Missense_Mutation	SNP	G	TCGA-KS-A4I3-01A-11D-A257-08		33055412	126083251	3	9846											
RELN	5649	broad.mit.edu	37	chr7	103230092	103230092	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggtgattcttgtccattcttCaaagtcccctgtgtgataca	8	10	3	2			TCGA-KS-A4I3-01A-11D-A257-08	TCGA-KS-A4I3-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a14b60c-27c5-4e97-908f-e727044d75b1	bbddd5b2-b8b0-4d56-97c3-5a2aefb16746	g.chr7:103230092C>T	ENST00000428762.1	-	28	4255	c.4096G>A	c.(4096-4098)Gaa>Aaa	p.E1366K	RELN_ENST00000343529.5_Missense_Mutation_p.E1366K|RELN_ENST00000424685.2_Missense_Mutation_p.E1366K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1366					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)		GTCCATTCTTCAAAGTCCCCT	0.458																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			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.(4096-4098)Gaa>Aaa		reelin							221	197	205					7																	103230092		2203	4300	6503	SO:0001583	missense	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.chr7:103230092C>T		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.4096G>A	7.37:g.103230092C>T	ENSP00000392423:p.Glu1366Lys					RELN_ENST00000428762.1_Missense_Mutation_p.E1366K|RELN_ENST00000343529.5_Missense_Mutation_p.E1366K	p.E1366K			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	28	4255	-			1366					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.4096G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.968620	0.92855	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.43688	0.94;1.8;0.94	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.49847	0.1581	L	0.27053	0.805	0.58432	D	0.999999	D;D	0.61080	0.989;0.977	P;P	0.59221	0.774;0.854	T	0.44390	-0.9331	10	0.44086	T	0.13	.	19.7009	0.96052	0.0:1.0:0.0:0.0	.	1366;1366	P78509-2;P78509	.;RELN_HUMAN	K	1366	ENSP00000392423:E1366K;ENSP00000345694:E1366K;ENSP00000388446:E1366K	ENSP00000345694:E1366K	E	-	1	0	RELN	103017328	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.227000	0.78070	2.737000	0.93849	0.563000	0.77884	GAA		0.458	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		51	91	0	0	0	1	0	51	91					T	103230092	C	T	103230092	3	4	481	1	0	0	0	0	1	0	0	0	13220	835	29	2	6438	2	RELN	7	103230092	Missense_Mutation	SNP	C	TCGA-KS-A4I3-01A-11D-A257-08	70174680	103230092	55908571	4	9847											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-KS-A4I3-01A-11D-A257-08	TCGA-KS-A4I3-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a14b60c-27c5-4e97-908f-e727044d75b1	bbddd5b2-b8b0-4d56-97c3-5a2aefb16746	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		22	41	0	0	0	1	0	22	41					T	140453136	A	T	140453136	3	4	481	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-KS-A4I3-01A-11D-A257-08	37223044	140453136	18685527	5	9848											
SSPO	23145	broad.mit.edu	37	chr7	149523622	149523622	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcctggtgccatctgtGtgcaggagccctgccagcct	13	14	1	0			TCGA-KS-A4I3-01A-11D-A257-08	TCGA-KS-A4I3-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a14b60c-27c5-4e97-908f-e727044d75b1	bbddd5b2-b8b0-4d56-97c3-5a2aefb16746	g.chr7:149523622G>A	ENST00000378016.2	+	0	14536							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCCATCTGTGTGCAGGAGCC	0.682																																						ENST00000378016.2																			0													SCO-spondin							17	21	20					7																	149523622		2160	4263	6423			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149523622G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149523622G>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	14536	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.682	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				6	10	0	0	0	1	0	6	10					A	149523622	G	A	149523622	1	1	481	0	1	0	0	0	0	0	0	0	15188	1377	48	2		2	SSPO	7	149523622	RNA	SNP	G	TCGA-KS-A4I3-01A-11D-A257-08	9070486	149523622	9615041	6	9849											
ST18	9705	broad.mit.edu	37	chr8	53028862	53028862	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaagctggatgtcagcaagGcttgaaatgagagcttggct	15	6	1	2			TCGA-KS-A4I3-01A-11D-A257-08	TCGA-KS-A4I3-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a14b60c-27c5-4e97-908f-e727044d75b1	bbddd5b2-b8b0-4d56-97c3-5a2aefb16746	g.chr8:53028862G>T	ENST00000276480.7	-	25	3659	c.2976C>A	c.(2974-2976)agC>agA	p.S992R		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	992					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGTCAGCAAGGCTTGAAATGA	0.463																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(2974-2976)agC>agA		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							214	162	180					8																	53028862		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53028862G>T	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2976C>A	8.37:g.53028862G>T	ENSP00000276480:p.Ser992Arg						p.S992R	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			25	3659	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	992					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.2976C>A	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.436531	0.62955	.	.	ENSG00000147488	ENST00000276480	T	0.52754	0.65	5.59	0.627	0.17675	.	0.000000	0.85682	D	0.000000	T	0.61874	0.2382	M	0.69358	2.11	0.54753	D	0.999986	D	0.76494	0.999	D	0.85130	0.997	T	0.61342	-0.7082	10	0.72032	D	0.01	-21.2398	10.3557	0.43962	0.4625:0.0:0.5375:0.0	.	992	O60284	ST18_HUMAN	R	992	ENSP00000276480:S992R	ENSP00000276480:S992R	S	-	3	2	ST18	53191415	0.985000	0.35326	0.679000	0.29978	0.774000	0.43823	0.158000	0.16422	0.046000	0.15833	0.655000	0.94253	AGC		0.463	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			11	57	1	0	3.86212e-05	1	4.21322e-05	11	57					T	53028862	G	T	53028862	3	4	481	1	0	0	0	0	1	0	0	0	15211	1194	42	4	175	4	ST18	8	53028862	Missense_Mutation	SNP	G	TCGA-KS-A4I3-01A-11D-A257-08		53028862	93335160	7	9850											
FREM1	158326	broad.mit.edu	37	chr9	14859445	14859445	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccaggagatagacccacaGgataaaagtttctatgaagg	10	7	1	3			TCGA-KS-A4I3-01A-11D-A257-08	TCGA-KS-A4I3-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a14b60c-27c5-4e97-908f-e727044d75b1	bbddd5b2-b8b0-4d56-97c3-5a2aefb16746	g.chr9:14859445G>A	ENST00000380880.3	-	4	1150	c.367C>T	c.(367-369)Ctg>Ttg	p.L123L	FREM1_ENST00000422223.2_Silent_p.L123L|FREM1_ENST00000380881.4_Silent_p.L123L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	123					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TAGACCCACAGGATAAAAGTT	0.408																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(367-369)Ctg>Ttg		FRAS1 related extracellular matrix 1							117	114	115					9																	14859445		1861	4095	5956	SO:0001819	synonymous_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14859445G>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.367C>T	9.37:g.14859445G>A						FREM1_ENST00000422223.2_Silent_p.L123L|FREM1_ENST00000380880.3_Silent_p.L123L	p.L123L			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	5	1182	-			123					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	c.367C>T	CCDS47952.1																																																																																				0.408	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		46	79	0	0	0	1	0	46	79					A	14859445	G	A	14859445	2	1	481	1	0	0	0	0	0	0	0	1	6044	991	35	2		2	FREM1	9	14859445	Silent	SNP	G	TCGA-KS-A4I3-01A-11D-A257-08		14859445	126353986	8	9851											
ZMYND11	10771	broad.mit.edu	37	chr10	292819	292819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagctggagctgcatcagcGtttcctacgagaagggagat	14	8	1	3			TCGA-KS-A4I3-01A-11D-A257-08	TCGA-KS-A4I3-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a14b60c-27c5-4e97-908f-e727044d75b1	bbddd5b2-b8b0-4d56-97c3-5a2aefb16746	g.chr10:292819G>A	ENST00000397962.3	+	11	1492	c.1064G>A	c.(1063-1065)cGt>cAt	p.R355H	ZMYND11_ENST00000545619.1_Missense_Mutation_p.R235H|ZMYND11_ENST00000381602.4_Missense_Mutation_p.R315H|ZMYND11_ENST00000403354.1_Missense_Mutation_p.R275H|ZMYND11_ENST00000402736.1_Missense_Mutation_p.R324H|ZMYND11_ENST00000381591.1_Missense_Mutation_p.R355H|ZMYND11_ENST00000381607.4_Missense_Mutation_p.R261H|ZMYND11_ENST00000381604.4_Missense_Mutation_p.R315H|ZMYND11_ENST00000381584.1_Missense_Mutation_p.R338H|ZMYND11_ENST00000558098.2_Missense_Mutation_p.R355H|ZMYND11_ENST00000309776.4_Missense_Mutation_p.R315H|ZMYND11_ENST00000509513.2_Missense_Mutation_p.R354H|ZMYND11_ENST00000535374.1_Missense_Mutation_p.R150H|ZMYND11_ENST00000602682.1_Missense_Mutation_p.R270H|ZMYND11_ENST00000397959.3_Missense_Mutation_p.R270H|ZMYND11_ENST00000473115.1_3'UTR			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	355					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription elongation from RNA polymerase II promoter (GO:0034243)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CTGCATCAGCGTTTCCTACGA	0.478																																						ENST00000397962.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24						c.(1063-1065)cGt>cAt		zinc finger, MYND-type containing 11							101	87	91					10																	292819		2203	4300	6503	SO:0001583	missense	10771				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:292819G>A	X86098	CCDS7052.1, CCDS7053.1, CCDS7052.2, CCDS55696.1, CCDS55697.1, CCDS7053.2, CCDS73060.1, CCDS73061.1	10p14	2011-01-26	2011-01-26		ENSG00000015171	ENSG00000015171		"Zinc fingers, MYND-type"	16966	protein-coding gene	gene with protein product		608668	"zinc finger, MYND domain containing 11"			7621829, 10734313	Standard	NM_006624		Approved	BS69	uc010pzx.2	Q15326	OTTHUMG00000017526	ENST00000397962.3:c.1064G>A	10.37:g.292819G>A	ENSP00000381053:p.Arg355His					ZMYND11_ENST00000381591.1_Missense_Mutation_p.R355H|ZMYND11_ENST00000381584.1_Missense_Mutation_p.R338H|ZMYND11_ENST00000381604.4_Missense_Mutation_p.R315H|ZMYND11_ENST00000402736.1_Missense_Mutation_p.R324H|ZMYND11_ENST00000509513.2_Missense_Mutation_p.R354H|ZMYND11_ENST00000535374.1_Missense_Mutation_p.R150H|ZMYND11_ENST00000558098.2_Missense_Mutation_p.R355H|ZMYND11_ENST00000381607.4_Missense_Mutation_p.R261H|ZMYND11_ENST00000403354.1_Missense_Mutation_p.R275H|ZMYND11_ENST00000473115.1_3'UTR|ZMYND11_ENST00000545619.1_Missense_Mutation_p.R235H|ZMYND11_ENST00000381602.4_Missense_Mutation_p.R315H|ZMYND11_ENST00000602682.1_Missense_Mutation_p.R270H|ZMYND11_ENST00000397959.3_Missense_Mutation_p.R270H|ZMYND11_ENST00000309776.4_Missense_Mutation_p.R315H	p.R355H			Q15326	ZMY11_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	11	1492	+		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	315					B2R6G8|B7Z293|F6UH50|Q2LD45|Q2LD46|Q2LD47|Q2LD48|Q5VUI1|Q8N4B3	Missense_Mutation	SNP	ENST00000397962.3	37	c.1064G>A	CCDS7052.2	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681410	0.88542	.	.	ENSG00000015171	ENST00000397962;ENST00000309776;ENST00000381602;ENST00000509513;ENST00000397959;ENST00000381591;ENST00000403354;ENST00000381607;ENST00000402736;ENST00000381604;ENST00000381584;ENST00000545619;ENST00000535374	T;T;T;T;T;T;T;T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49	5.37	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.75309	0.3832	L	0.29908	0.895	0.43835	D	0.996412	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.998;1.0;0.998;1.0;0.999;0.999;1.0	P;D;P;P;P;D;P;P;P;P	0.72075	0.904;0.935;0.891;0.835;0.904;0.976;0.904;0.902;0.813;0.904	T	0.80502	-0.1354	9	0.51188	T	0.08	-16.7173	14.4687	0.67501	0.0713:0.0:0.9287:0.0	.	315;355;270;300;355;275;284;301;301;324	Q15326;Q2LD45;B7Z293;B7Z2J6;Q2LD48;B0QZE2;B0QZE3;Q2LD46;Q2LD47;E7ENI9	ZMY11_HUMAN;.;.;.;.;.;.;.;.;.	H	355;315;315;355;270;355;275;261;324;315;338;235;150	ENSP00000381053:R355H;ENSP00000309992:R315H;ENSP00000371015:R315H;ENSP00000381050:R270H;ENSP00000371003:R355H;ENSP00000385484:R275H;ENSP00000371020:R261H;ENSP00000386010:R324H;ENSP00000371017:R315H;ENSP00000370996:R338H;ENSP00000438461:R235H;ENSP00000439587:R150H	ENSP00000309992:R315H	R	+	2	0	ZMYND11	282819	1.000000	0.71417	0.984000	0.44739	0.856000	0.48823	8.009000	0.88606	1.398000	0.46701	0.655000	0.94253	CGT		0.478	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046382.4	NM_006624		5	13	0	0	0	1	0	5	13					A	292819	G	A	292819	3	1	481	1	0	0	0	0	1	0	0	0	17703	1145	40	1	1102	1	ZMYND11	10	292819	Missense_Mutation	SNP	G	TCGA-KS-A4I3-01A-11D-A257-08		292819	135241928	9	9852											
KRTAP5-10	387273	broad.mit.edu	37	chr11	71276909	71276910	+	In_Frame_Ins	INS	-	-	GGCTGTGGCTCCTGTGGGGGCTCCAAGGGA													cctgtgggggctccaaggggINSggctgtggctcctgtggggg					rs71272260|rs12289712	byFrequency	TCGA-KS-A4I3-01A-11D-A257-08	TCGA-KS-A4I3-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a14b60c-27c5-4e97-908f-e727044d75b1	bbddd5b2-b8b0-4d56-97c3-5a2aefb16746	g.chr11:71276909_71276910insGGCTGTGGCTCCTGTGGGGGCTCCAAGGGA	ENST00000398531.1	+	1	301_302	c.276_277insGGCTGTGGCTCCTGTGGGGGCTCCAAGGGA	c.(277-279)ggc>GGCTGTGGCTCCTGTGGGGGCTCCAAGGGAggc	p.93_93G>GCGSCGGSKGG	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	93	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GCTCCAAGGGGGGCTGTGGCTC	0.678																																						ENST00000398531.1																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(274-279)gggctg>ggGGCTGTGGCTCCTGTGGGGGCTCCAAGGGAgctg		keratin associated protein 5-10																																				SO:0001652	inframe_insertion	387273					keratin filament		g.chr11:71276909_71276910insGGCTGTGGCTCCTGTGGGGGCTCCAAGGGA	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"Keratin associated proteins"	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	Exception_encountered	11.37:g.71276909_71276910insGGCTGTGGCTCCTGTGGGGGCTCCAAGGGA	ENSP00000381542:p.CysGlySerCysGlyGlySerLysGlyGly133dup					KRTAP5-10_ENST00000376536.4_Intron	p.92_93GL>GAVAPVGAPREL	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN			1	301_302	+			92			7 X 4 AA repeats of C-C-X-P.		B9EHA4	In_Frame_Ins	INS	ENST00000398531.1	37	c.276_277insGGCTGTGGCTCCTGTGGGGGCTCCAAGGGA	CCDS41684.1																																																																																				0.678	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			13	233						13	233	---	---	---	---	GGCTGTGGCTCCTGTGGGGGCTCCAAGGGA	71276910	-	GGCTGTGGCTCCTGTGGGGGCTCCAAGGGA	71276909	7	5	481	1	0	1	1	0	0	0	0	0	8559	1219	43	0	278	0	KRTAP5-10	11	71276909	In_Frame_Ins	INS	-	TCGA-KS-A4I3-01A-11D-A257-08		71276909	63729607	10	9853											
IGSF9B	22997	broad.mit.edu	37	chr11	133790063	133790063	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtaaactgggctcggcgCgcctggcctgccgagggcta	16	12	0	0			TCGA-KS-A4I3-01A-11D-A257-08	TCGA-KS-A4I3-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a14b60c-27c5-4e97-908f-e727044d75b1	bbddd5b2-b8b0-4d56-97c3-5a2aefb16746	g.chr11:133790063C>T	ENST00000321016.8	-	18	3787	c.3557G>A	c.(3556-3558)cGc>cAc	p.R1186H	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R1186H			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1186	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGGCTCGGCGCGCCTGGCCTG	0.721																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(3556-3558)cGc>cAc		immunoglobulin superfamily, member 9B							27	33	31					11																	133790063		1877	4077	5954	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133790063C>T	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.3557G>A	11.37:g.133790063C>T	ENSP00000317980:p.Arg1186His					IGSF9B_ENST00000533871.2_Missense_Mutation_p.R1186H	p.R1186H			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	3787	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1186			Pro-rich.		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.3557G>A		.	.	.	.	.	.	.	.	.	.	C	21.7	4.185781	0.78789	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.72167	-0.32;-0.63	5.08	5.08	0.68730	.	0.000000	0.43416	D	0.000570	T	0.70587	0.3241	N	0.24115	0.695	0.38656	D	0.951957	D	0.71674	0.998	P	0.54346	0.749	T	0.77496	-0.2566	10	0.87932	D	0	.	18.0591	0.89371	0.0:1.0:0.0:0.0	.	1186	Q9UPX0	TUTLB_HUMAN	H	1186;1028	ENSP00000317980:R1186H;ENSP00000436552:R1028H	ENSP00000317980:R1186H	R	-	2	0	IGSF9B	133295273	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.762000	0.55250	2.358000	0.79984	0.455000	0.32223	CGC		0.721	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		29	52	0	0	0	1	0	29	52					T	133790063	C	T	133790063	3	4	481	1	0	0	0	0	1	0	0	0	7606	768	27	1	500	1	IGSF9B	11	133790063	Missense_Mutation	SNP	C	TCGA-KS-A4I3-01A-11D-A257-08	62513154	133790063	1216453	11	9854											
XPOT	11260	broad.mit.edu	37	chr12	64827210	64827210	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagatacaggtatccccgtTtttacaacagatgttcatgc	7	10	2	2			TCGA-KS-A4I3-01A-11D-A257-08	TCGA-KS-A4I3-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a14b60c-27c5-4e97-908f-e727044d75b1	bbddd5b2-b8b0-4d56-97c3-5a2aefb16746	g.chr12:64827210T>G	ENST00000332707.5	+	19	2808	c.2279T>G	c.(2278-2280)tTt>tGt	p.F760C		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	760	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GTATCCCCGTTTTTACAACAG	0.368																																						ENST00000332707.5																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2278-2280)tTt>tGt		exportin, tRNA							134	132	133					12																	64827210		2203	4300	6503	SO:0001583	missense	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64827210T>G	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"Exportins"	12826	protein-coding gene	gene with protein product		603180	"exportin, tRNA (nuclear export receptor for tRNAs)"			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.2279T>G	12.37:g.64827210T>G	ENSP00000327821:p.Phe760Cys						p.F760C	NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	19	2808	+			760			Necessary for tRNA-binding, cytoplasmic localization and nuclear export.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	ENST00000332707.5	37	c.2279T>G	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	T	12.85	2.062050	0.36373	.	.	ENSG00000184575	ENST00000332707	T	0.42131	0.98	4.99	4.99	0.66335	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.36936	0.0985	M	0.62723	1.935	0.80722	D	1	P	0.39831	0.69	B	0.29598	0.104	T	0.32348	-0.9910	9	.	.	.	.	14.9893	0.71374	0.0:0.0:0.0:1.0	.	760	O43592	XPOT_HUMAN	C	760	ENSP00000327821:F760C	.	F	+	2	0	XPOT	63113477	1.000000	0.71417	0.999000	0.59377	0.097000	0.18754	7.873000	0.87193	2.004000	0.58718	0.528000	0.53228	TTT		0.368	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		63	75	0	0	0	1	0	63	75					G	64827210	T	G	64827210	3	3	481	1	0	0	0	0	1	0	0	0	17447	1841	64	5	2349	5	XPOT	12	64827210	Missense_Mutation	SNP	T	TCGA-KS-A4I3-01A-11D-A257-08		64827210	69024685	12	9855											
GAS6	2621	broad.mit.edu	37	chr13	114535648	114535648	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aagcgcagtcggatcacgggGgtcccactgaacatccggcc	13	14	1	1			TCGA-KS-A4I3-01A-11D-A257-08	TCGA-KS-A4I3-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a14b60c-27c5-4e97-908f-e727044d75b1	bbddd5b2-b8b0-4d56-97c3-5a2aefb16746	g.chr13:114535648G>C	ENST00000327773.6	-	9	1058	c.912C>G	c.(910-912)acC>acG	p.T304T	GAS6_ENST00000355761.4_Silent_p.T250T|GAS6_ENST00000450766.1_Silent_p.T31T|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000357389.3_Silent_p.T347T|GAS6_ENST00000418959.3_Silent_p.T5T	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	347					activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				GGATCACGGGGGTCCCACTGA	0.617																																						ENST00000357389.3																			0				central_nervous_system(4)|ovary(1)	5						c.(1039-1041)acC>acG		growth arrest-specific 6							137	99	112					13																	114535648		2200	4292	6492	SO:0001819	synonymous_variant	2621				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity	g.chr13:114535648G>C		CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"AXL stimulatory factor"	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.912C>G	13.37:g.114535648G>C						GAS6_ENST00000480426.1_5'UTR|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000450766.1_Silent_p.T31T|GAS6_ENST00000418959.3_Silent_p.T5T|GAS6_ENST00000327773.6_Silent_p.T304T|GAS6_ENST00000355761.4_Silent_p.T250T	p.T347T			Q14393	GAS6_HUMAN			9	1193	-	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)	347			Laminin G-like 1.		B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Silent	SNP	ENST00000327773.6	37	c.1041C>G	CCDS45072.1																																																																																				0.617	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045946.2	NM_000820		9	72	0	0	0	1	0	9	72					C	114535648	G	C	114535648	2	2	481	1	0	0	0	0	0	0	0	1	6249	1219	43	4		4	GAS6	13	114535648	Silent	SNP	G	TCGA-KS-A4I3-01A-11D-A257-08		114535648	634230	13	9856											
ZNF766	90321	broad.mit.edu	37	chr19	52793760	52793760	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	acattggagaattcgtacagGagagaaaccttacaaatgta	9	6	0	2			TCGA-KS-A4I3-01A-11D-A257-08	TCGA-KS-A4I3-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a14b60c-27c5-4e97-908f-e727044d75b1	bbddd5b2-b8b0-4d56-97c3-5a2aefb16746	g.chr19:52793760G>T	ENST00000439461.1	+	4	759	c.716G>T	c.(715-717)gGa>gTa	p.G239V	ZNF766_ENST00000359102.4_Missense_Mutation_p.G254V|ZNF766_ENST00000599581.1_3'UTR|ZNF766_ENST00000593612.1_Missense_Mutation_p.G254V|CTD-2525I3.5_ENST00000594865.1_RNA	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	239					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(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		ATTCGTACAGGAGAGAAACCT	0.438																																						ENST00000439461.1																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17						c.(715-717)gGa>gTa		zinc finger protein 766							49	51	50					19																	52793760		2180	4291	6471	SO:0001583	missense	90321				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52793760G>T	AK024074	CCDS46163.1	19q13.33	2013-01-08				ENSG00000196214		"Zinc fingers, C2H2-type", "-"	28063	protein-coding gene	gene with protein product							Standard	XM_006723458		Approved		uc002pyr.1	Q5HY98		ENST00000439461.1:c.716G>T	19.37:g.52793760G>T	ENSP00000409652:p.Gly239Val					ZNF766_ENST00000593612.1_Missense_Mutation_p.G254V|ZNF766_ENST00000359102.4_Missense_Mutation_p.G254V|ZNF766_ENST00000599581.1_3'UTR|CTD-2525I3.5_ENST00000594865.1_RNA	p.G239V	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN		GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)	4	759	+			239					B2RNE0|Q7Z326	Missense_Mutation	SNP	ENST00000439461.1	37	c.716G>T	CCDS46163.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.470116	0.26423	.	.	ENSG00000196214	ENST00000439461;ENST00000359102	T;T	0.23552	1.9;1.9	2.38	2.38	0.29361	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48943	0.1528	M	0.77486	2.375	0.50039	D	0.99984	D;D	0.89917	1.0;1.0	D;D	0.81914	0.991;0.995	T	0.55398	-0.8147	9	0.72032	D	0.01	.	11.8491	0.52401	0.0:0.0:1.0:0.0	.	254;239	G3XAE0;Q5HY98	.;ZN766_HUMAN	V	239;254	ENSP00000409652:G239V;ENSP00000352005:G254V	ENSP00000352005:G254V	G	+	2	0	ZNF766	57485572	0.032000	0.19561	0.409000	0.26459	0.019000	0.09904	0.425000	0.21346	1.318000	0.45170	0.650000	0.86243	GGA		0.438	ZNF766-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462764.1	NM_001010851		5	35	1	0	0.0215528	1	0.0221686	5	35					T	52793760	G	T	52793760	3	4	481	1	0	0	0	0	1	0	0	0	18137	1174	41	4	730	4	ZNF766	19	52793760	Missense_Mutation	SNP	G	TCGA-KS-A4I3-01A-11D-A257-08		52793760	6335223	14	9857											
SPTA1	6708	broad.mit.edu	37	chr1	158583518	158583518	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtcttgttcctacctccctgGatccacagcatccaggaact	7	15	1	0			TCGA-KS-A4I5-01A-11D-A257-08	TCGA-KS-A4I5-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af67f563-1ff5-4bde-98d3-2a8423cf3dc3	e2e7d21f-54cf-4016-9a52-93ece18ee0d6	g.chr1:158583518G>T	ENST00000368147.4	-	50	7162	c.6982C>A	c.(6982-6984)Cca>Aca	p.P2328T	SPTA1_ENST00000485680.1_5'Flank	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2328	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TACCTCCCTGGATCCACAGCA	0.493																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(6982-6984)Cca>Aca		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							69	68	69					1																	158583518		1945	4133	6078	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158583518G>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6982C>A	1.37:g.158583518G>T	ENSP00000357129:p.Pro2328Thr					SPTA1_ENST00000368147.3_Missense_Mutation_p.P2325T	p.P2328T	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			50	7162	-	all_hematologic(112;0.0378)		2328			EF-hand 2.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.6982C>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.901793	0.72754	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.20463	2.07;2.07	5.1	5.1	0.69264	EF-hand-like domain (1);	0.000000	0.31989	N	0.006760	T	0.40719	0.1128	M	0.76170	2.325	0.58432	D	0.999997	D	0.89917	1.0	D	0.79108	0.992	T	0.30387	-0.9980	10	0.72032	D	0.01	.	17.2641	0.87081	0.0:0.0:1.0:0.0	.	2328	P02549	SPTA1_HUMAN	T	2328;2325	ENSP00000357130:P2328T;ENSP00000357129:P2325T	ENSP00000357129:P2325T	P	-	1	0	SPTA1	156850142	1.000000	0.71417	0.639000	0.29394	0.608000	0.37181	8.730000	0.91510	2.661000	0.90470	0.650000	0.86243	CCA		0.493	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		14	34	1	0	3.27435e-08	1	3.4728e-08	14	34					T	158583518	G	T	158583518	3	4	482	1	0	0	0	0	1	0	0	0	15115	1174	41	4	289	4	SPTA1	1	158583518	Missense_Mutation	SNP	G	TCGA-KS-A4I5-01A-11D-A257-08		158583518	90667103	1	9858											
FAM124B	79843	broad.mit.edu	37	chr2	225266211	225266211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggggtagcactgccatggcGaatgctggagagagtccagg	17	8	0	1	rs181816086		TCGA-KS-A4I5-01A-11D-A257-08	TCGA-KS-A4I5-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af67f563-1ff5-4bde-98d3-2a8423cf3dc3	e2e7d21f-54cf-4016-9a52-93ece18ee0d6	g.chr2:225266211G>A	ENST00000409685.3	-	1	540	c.275C>T	c.(274-276)tCg>tTg	p.S92L	FAM124B_ENST00000243806.2_Missense_Mutation_p.S92L|FAM124B_ENST00000389874.3_Missense_Mutation_p.S92L	NM_001122779.1	NP_001116251.1	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	92										endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		CTGCCATGGCGAATGCTGGAG	0.582													G|||	1	0.000199681	0	0.0014	5008	,	,		18416	0		0	False		,,,				2504	0					ENST00000389874.3																			0				endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16						c.(274-276)tCg>tTg		family with sequence similarity 124B							60	56	57					2																	225266211		2203	4300	6503	SO:0001583	missense	79843						protein binding	g.chr2:225266211G>A	AK075126	CCDS2461.1, CCDS46527.1	2q36.2	2008-02-05			ENSG00000124019	ENSG00000124019			26224	protein-coding gene	gene with protein product						12477932	Standard	NM_001122779		Approved	FLJ22746	uc002vnx.3	Q9H5Z6	OTTHUMG00000133168	ENST00000409685.3:c.275C>T	2.37:g.225266211G>A	ENSP00000386895:p.Ser92Leu					FAM124B_ENST00000243806.2_Missense_Mutation_p.S92L|FAM124B_ENST00000409685.3_Missense_Mutation_p.S92L	p.S92L	NM_024785.2	NP_079061.2	Q9H5Z6	F124B_HUMAN		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)	1	500	-		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)	92					A6NNC7|Q8NBZ4|Q8TAV7	Missense_Mutation	SNP	ENST00000409685.3	37	c.275C>T	CCDS46527.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	14.33	2.502052	0.44455	.	.	ENSG00000124019	ENST00000389874;ENST00000409685;ENST00000243806	T;T;T	0.44881	0.91;0.91;0.91	5.69	4.81	0.61882	.	0.273838	0.41938	D	0.000784	T	0.27798	0.0684	N	0.22421	0.69	0.25126	N	0.990606	P;P	0.47106	0.89;0.89	B;B	0.34418	0.182;0.088	T	0.15780	-1.0425	10	0.72032	D	0.01	-1.9118	15.3105	0.74028	0.0:0.1794:0.8206:0.0	.	92;92	Q9H5Z6;Q9H5Z6-2	F124B_HUMAN;.	L	92	ENSP00000374524:S92L;ENSP00000386895:S92L;ENSP00000243806:S92L	ENSP00000243806:S92L	S	-	2	0	FAM124B	224974455	1.000000	0.71417	0.152000	0.22495	0.155000	0.21991	7.377000	0.79668	1.399000	0.46721	0.655000	0.94253	TCG		0.582	FAM124B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330873.1	NM_024785		13	36	0	0	0	1	0	13	36					A	225266211	G	A	225266211	3	1	482	1	0	0	0	0	1	0	0	0	5426	1059	37	1	1191	1	FAM124B	2	225266211	Missense_Mutation	SNP	G	TCGA-KS-A4I5-01A-11D-A257-08		225266211	17933162	2	9859											
PIGZ	80235	broad.mit.edu	37	chr3	196678722	196678722	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcaggggactggaagaactCatctgggtgcacatagcccg	13	11	3	1	rs146476701		TCGA-KS-A4I5-01A-11D-A257-08	TCGA-KS-A4I5-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af67f563-1ff5-4bde-98d3-2a8423cf3dc3	e2e7d21f-54cf-4016-9a52-93ece18ee0d6	g.chr3:196678722C>T	ENST00000412723.1	-	2	327	c.181G>A	c.(181-183)Gag>Aag	p.E61K	PIGZ_ENST00000443835.1_Missense_Mutation_p.E61K	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	61					GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	alpha-1,2-mannosyltransferase activity (GO:0000026)|mannosyltransferase activity (GO:0000030)			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		TGGAAGAACTCATCTGGGTGC	0.567																																						ENST00000412723.1																			0				breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14						c.(181-183)Gag>Aag		phosphatidylinositol glycan anchor biosynthesis, class Z		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	87	77	80		181	4.7	1.0	3	dbSNP_134	80	0,8600		0,0,4300	no	missense	PIGZ	NM_025163.2	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	61/580	196678722	1,13005	2203	4300	6503	SO:0001583	missense	80235				GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr3:196678722C>T	BC018804	CCDS3324.1	3q29	2013-02-26	2006-06-28		ENSG00000119227	ENSG00000119227		"Dolichyl D-mannosyl phosphate dependent mannosyltransferases", "Phosphatidylinositol glycan anchor biosynthesis"	30596	protein-coding gene	gene with protein product	"GPI mannosyltransferase 4", "dol-P-Man dependent GPI mannosyltransferase"	611671	"phosphatidylinositol glycan, class Z"			15208306	Standard	NM_025163		Approved	FLJ12768, MGC52163, SMP3	uc003fxh.3	Q86VD9	OTTHUMG00000155522	ENST00000412723.1:c.181G>A	3.37:g.196678722C>T	ENSP00000413405:p.Glu61Lys					PIGZ_ENST00000443835.1_Missense_Mutation_p.E61K	p.E61K	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)	2	327	-	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		61					Q9H9G6	Missense_Mutation	SNP	ENST00000412723.1	37	c.181G>A	CCDS3324.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.884516	0.91814	2.27E-4	0.0	ENSG00000119227	ENST00000412723;ENST00000443835	D;D	0.90261	-2.64;-2.64	4.69	4.69	0.59074	.	0.000000	0.53938	D	0.000044	D	0.96552	0.8875	H	0.94620	3.56	0.36153	D	0.847571	D	0.89917	1.0	D	0.72075	0.976	D	0.99950	1.1523	10	0.72032	D	0.01	-19.1912	16.5997	0.84810	0.0:1.0:0.0:0.0	.	61	Q86VD9	PIGZ_HUMAN	K	61	ENSP00000413405:E61K;ENSP00000389327:E61K	ENSP00000413405:E61K	E	-	1	0	PIGZ	198163119	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.872000	0.63050	2.342000	0.79632	0.561000	0.74099	GAG		0.567	PIGZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340486.2	NM_025163		3	47	0	0	0	1	0	3	47					T	196678722	C	T	196678722	3	4	482	1	0	0	0	0	1	0	0	0	11905	835	29	2	1566	2	PIGZ	3	196678722	Missense_Mutation	SNP	C	TCGA-KS-A4I5-01A-11D-A257-08		196678722	1343708	3	9860											
BDH1	622	broad.mit.edu	37	chr3	197239158	197239158	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtccgagaaagcctctacccCgaacttggtgatgcagtacg	11	12	1	2			TCGA-KS-A4I5-01A-11D-A257-08	TCGA-KS-A4I5-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af67f563-1ff5-4bde-98d3-2a8423cf3dc3	e2e7d21f-54cf-4016-9a52-93ece18ee0d6	g.chr3:197239158C>A	ENST00000392378.2	-	7	950	c.640G>T	c.(640-642)Ggg>Tgg	p.G214W	BDH1_ENST00000358186.2_Missense_Mutation_p.G214W|BDH1_ENST00000392379.1_Missense_Mutation_p.G214W|BDH1_ENST00000441275.1_Missense_Mutation_p.G127W	NM_004051.4	NP_004042.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	214					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|response to cadmium ion (GO:0046686)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to growth hormone (GO:0060416)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|phospholipid binding (GO:0005543)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)		GCCTCTACCCCGAACTTGGTG	0.632																																						ENST00000392379.1																			0				endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						c.(640-642)Ggg>Tgg		3-hydroxybutyrate dehydrogenase, type 1	NADH(DB00157)						43	44	43					3																	197239158		2203	4300	6503	SO:0001583	missense	622				cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity	g.chr3:197239158C>A	M93107	CCDS3328.1	3q29	2011-09-14	2005-11-15	2005-11-15	ENSG00000161267	ENSG00000161267	1.1.1.30	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	1027	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 9C, member 1"	603063	"3-hydroxybutyrate dehydrogenase (heart, mitochondrial)"	BDH		1639787, 19027726	Standard	XM_005269352		Approved	SDR9C1	uc003fxs.3	Q02338	OTTHUMG00000155478	ENST00000392378.2:c.640G>T	3.37:g.197239158C>A	ENSP00000376183:p.Gly214Trp					BDH1_ENST00000441275.1_Missense_Mutation_p.G127W|BDH1_ENST00000392378.2_Missense_Mutation_p.G214W|BDH1_ENST00000358186.2_Missense_Mutation_p.G214W	p.G214W	NM_203314.2	NP_976059.1	Q02338	BDH_HUMAN	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	8	1041	-	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	214					D3DXC0|Q96ET1|Q9BRZ4	Missense_Mutation	SNP	ENST00000392378.2	37	c.640G>T	CCDS3328.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.115886	0.77323	.	.	ENSG00000161267	ENST00000392378;ENST00000358186;ENST00000392379;ENST00000441275;ENST00000446746	D;D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37;-3.37	5.3	5.3	0.74995	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.96694	0.8921	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97089	0.9789	10	0.87932	D	0	.	16.8338	0.85951	0.0:1.0:0.0:0.0	.	214	Q02338	BDH_HUMAN	W	214;214;214;127;127	ENSP00000376183:G214W;ENSP00000350914:G214W;ENSP00000376184:G214W;ENSP00000411014:G127W;ENSP00000387648:G127W	ENSP00000350914:G214W	G	-	1	0	BDH1	198723555	1.000000	0.71417	0.957000	0.39632	0.414000	0.31173	7.711000	0.84669	2.634000	0.89283	0.655000	0.94253	GGG		0.632	BDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340267.1	NM_004051		20	36	1	0	2.4624e-09	1	2.69325e-09	20	36					A	197239158	C	A	197239158	3	1	482	1	0	0	0	0	1	0	0	0	1390	652	23	4	395	4	BDH1	3	197239158	Missense_Mutation	SNP	C	TCGA-KS-A4I5-01A-11D-A257-08	560436	197239158	783272	4	9861											
PCDHGA3	56112	broad.mit.edu	37	chr5	140725487	140725487	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgggcgaggtgcgcacggcGcgagccctgctggacagaga	18	12	0	1			TCGA-KS-A4I5-01A-11D-A257-08	TCGA-KS-A4I5-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af67f563-1ff5-4bde-98d3-2a8423cf3dc3	e2e7d21f-54cf-4016-9a52-93ece18ee0d6	g.chr5:140725487G>A	ENST00000253812.6	+	1	1887	c.1887G>A	c.(1885-1887)gcG>gcA	p.A629A	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	629	Cadherin 6. {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)	p.A629A(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGCACGGCGCGAGCCCTGC	0.701																																						ENST00000253812.6																			1	Substitution - coding silent(1)	p.A629A(1)	lung(1)	breast(1)	1						c.(1885-1887)gcG>gcA									9	14	13					5																	140725487		1964	3983	5947	SO:0001819	synonymous_variant	0							g.chr5:140725487G>A	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"Cadherins / Protocadherins : Clustered"	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1887G>A	5.37:g.140725487G>A						PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.A629A	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1887	+								Q9Y5D4	Silent	SNP	ENST00000253812.6	37	c.1887G>A	CCDS47290.1																																																																																				0.701	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		33	67	0	0	0	1	0	33	67					A	140725487	G	A	140725487	2	1	482	1	0	0	0	0	0	0	0	1	11555	1074	38	1		1	PCDHGA3	5	140725487	Silent	SNP	G	TCGA-KS-A4I5-01A-11D-A257-08		140725487	40189773	5	9862											
RREB1	6239	broad.mit.edu	37	chr6	7231362	7231362	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcacagcccctgcagggCcctgttcagctggcggtccc	12	18	1	0			TCGA-KS-A4I5-01A-11D-A257-08	TCGA-KS-A4I5-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af67f563-1ff5-4bde-98d3-2a8423cf3dc3	e2e7d21f-54cf-4016-9a52-93ece18ee0d6	g.chr6:7231362C>T	ENST00000349384.6	+	10	3344	c.3030C>T	c.(3028-3030)ggC>ggT	p.G1010G	RREB1_ENST00000379933.3_Silent_p.G1010G|RREB1_ENST00000379938.2_Silent_p.G1010G|RREB1_ENST00000334984.6_Silent_p.G1010G	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1010	Pro-rich.				multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCCTGCAGGGCCCTGTTCAGC	0.667																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(3028-3030)ggC>ggT		ras responsive element binding protein 1							18	22	20					6																	7231362		2190	4266	6456	SO:0001819	synonymous_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7231362C>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.3030C>T	6.37:g.7231362C>T						RREB1_ENST00000334984.6_Silent_p.G1010G|RREB1_ENST00000379933.3_Silent_p.G1010G|RREB1_ENST00000349384.6_Silent_p.G1010G	p.G1010G	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	3567	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	1010			Pro-rich.		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	c.3030C>T	CCDS34336.1																																																																																				0.667	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			5	40	0	0	0	1	0	5	40					T	7231362	C	T	7231362	2	4	482	1	0	0	0	0	0	0	0	1	13679	726	26	2		2	RREB1	6	7231362	Silent	SNP	C	TCGA-KS-A4I5-01A-11D-A257-08		7231362	163883705	6	9863											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-KS-A4I5-01A-11D-A257-08	TCGA-KS-A4I5-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af67f563-1ff5-4bde-98d3-2a8423cf3dc3	e2e7d21f-54cf-4016-9a52-93ece18ee0d6	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		21	40	0	0	0	1	0	21	40					T	140453136	A	T	140453136	3	4	482	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-KS-A4I5-01A-11D-A257-08		140453136	18685527	7	9864											
DLC1	10395	broad.mit.edu	37	chr8	13251080	13251080	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accgtagtcttgggtttggtTccagaattggctactggagt	13	7	1	1			TCGA-KS-A4I5-01A-11D-A257-08	TCGA-KS-A4I5-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af67f563-1ff5-4bde-98d3-2a8423cf3dc3	e2e7d21f-54cf-4016-9a52-93ece18ee0d6	g.chr8:13251080T>G	ENST00000276297.4	-	4	1705	c.1296A>C	c.(1294-1296)ggA>ggC	p.G432G	DLC1_ENST00000316609.5_Silent_p.G432G|DLC1_ENST00000511869.1_Silent_p.G432G	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	432					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TGGGTTTGGTTCCAGAATTGG	0.413																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(1294-1296)ggA>ggC		deleted in liver cancer 1							134	133	133					8																	13251080		2203	4300	6503	SO:0001819	synonymous_variant	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:13251080T>G	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1296A>C	8.37:g.13251080T>G						DLC1_ENST00000316609.5_Silent_p.G432G|DLC1_ENST00000511869.1_Silent_p.G432G	p.G432G	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			4	1705	-			432					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	c.1296A>C	CCDS5989.1																																																																																				0.413	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		47	49	0	0	0	1	0	47	49					G	13251080	T	G	13251080	2	3	482	1	0	0	0	0	0	0	0	1	4550	1770	62	5		5	DLC1	8	13251080	Silent	SNP	T	TCGA-KS-A4I5-01A-11D-A257-08		13251080	133112942	8	9865											
COL22A1	169044	broad.mit.edu	37	chr8	139668161	139668161	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagccaagagatttatgtcCcctggagacagtagtgaaga	11	7	0	4			TCGA-KS-A4I5-01A-11D-A257-08	TCGA-KS-A4I5-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af67f563-1ff5-4bde-98d3-2a8423cf3dc3	e2e7d21f-54cf-4016-9a52-93ece18ee0d6	g.chr8:139668161C>T	ENST00000303045.6	-	45	3758	c.3312G>A	c.(3310-3312)ggG>ggA	p.G1104G	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Silent_p.G1084G	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1104	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)			GATTTATGTCCCCTGGAGACA	0.388										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.(3310-3312)ggG>ggA		collagen, type XXII, alpha 1							203	206	205					8																	139668161		2203	4300	6503	SO:0001819	synonymous_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139668161C>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.3312G>A	8.37:g.139668161C>T		HNSCC(7;0.00092)				COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Silent_p.G1084G	p.G1104G	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		45	3758	-	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)		1104			Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	c.3312G>A	CCDS6376.1																																																																																				0.388	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		7	131	0	0	0	1	0	7	131					T	139668161	C	T	139668161	2	4	482	1	0	0	0	0	0	0	0	1	3681	610	22	2		2	COL22A1	8	139668161	Silent	SNP	C	TCGA-KS-A4I5-01A-11D-A257-08	126417081	139668161	6695861	9	9866											
MUC6	4588	broad.mit.edu	37	chr11	1030583	1030583	+	Frame_Shift_Del	DEL	G	G	-													ctggactcacagcacaggccGgggctccgccagcggcggac					rs369364495	byFrequency	TCGA-KS-A4I5-01A-11D-A257-08	TCGA-KS-A4I5-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af67f563-1ff5-4bde-98d3-2a8423cf3dc3	e2e7d21f-54cf-4016-9a52-93ece18ee0d6	g.chr11:1030583delG	ENST00000421673.2	-	7	932	c.882delC	c.(880-882)cccfs	p.P294fs		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	294					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCACAGGCCGGGGCTCCGCC	0.706																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(880-882)ccfs		mucin 6, oligomeric mucus/gel-forming							3	4	4					11																	1030583		1614	3675	5289	SO:0001589	frameshift_variant	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1030583delG	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.882delC	11.37:g.1030583delG	ENSP00000406861:p.Pro294fs						p.P294fs	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	7	932	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	294					O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Frame_Shift_Del	DEL	ENST00000421673.2	37	c.882delC	CCDS44513.1																																																																																				0.706	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		2	4						2	4	---	---	---	---	-	1030583	G	-	1030583	7	5	482	1	0	1	0	1	0	0	0	0	9980	1103	39	0	6545	0	MUC6	11	1030583	Frame_Shift_Del	DEL	G	TCGA-KS-A4I5-01A-11D-A257-08		1030583	133975933	10	9867											
FAT3	120114	broad.mit.edu	37	chr11	92568204	92568204	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gttcagccaagacgtctacaGtgcggttatcagtgaagacg	12	9	3	3			TCGA-KS-A4I5-01A-11D-A257-08	TCGA-KS-A4I5-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af67f563-1ff5-4bde-98d3-2a8423cf3dc3	e2e7d21f-54cf-4016-9a52-93ece18ee0d6	g.chr11:92568204G>C	ENST00000298047.6	+	14	10057	c.10040G>C	c.(10039-10041)aGt>aCt	p.S3347T	FAT3_ENST00000409404.2_Missense_Mutation_p.S3347T|FAT3_ENST00000525166.1_Missense_Mutation_p.S3197T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3347	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GACGTCTACAGTGCGGTTATC	0.517										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(10039-10041)aGt>aCt		FAT atypical cadherin 3							53	54	54					11																	92568204		1952	4155	6107	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92568204G>C	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10040G>C	11.37:g.92568204G>C	ENSP00000298047:p.Ser3347Thr	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.S3347T|FAT3_ENST00000525166.1_Missense_Mutation_p.S3197T	p.S3347T			Q8TDW7	FAT3_HUMAN			14	10057	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3347			Cadherin 31.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.10040G>C		.	.	.	.	.	.	.	.	.	.	G	7.110	0.575858	0.13623	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.02525	4.26;4.26;4.26	5.46	5.46	0.80206	.	.	.	.	.	T	0.02888	0.0086	N	0.20328	0.56	0.80722	D	1	B	0.22800	0.075	B	0.22386	0.039	T	0.54576	-0.8273	9	0.10636	T	0.68	.	19.3231	0.94250	0.0:0.0:1.0:0.0	.	3347	Q8TDW7-3	.	T	3347;3347;3197	ENSP00000298047:S3347T;ENSP00000387040:S3347T;ENSP00000432586:S3197T	ENSP00000298047:S3347T	S	+	2	0	FAT3	92207852	1.000000	0.71417	0.953000	0.39169	0.291000	0.27294	5.258000	0.65479	2.539000	0.85634	0.655000	0.94253	AGT		0.517	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		7	10	0	0	0	1	0	7	10					C	92568204	G	C	92568204	3	2	482	1	0	0	0	0	1	0	0	0	5691	1029	36	4	10094	4	FAT3	11	92568204	Missense_Mutation	SNP	G	TCGA-KS-A4I5-01A-11D-A257-08	91537621	92568204	42438312	11	9868											
HTR3B	9177	broad.mit.edu	37	chr11	113815463	113815463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggaacccagggcccaacGtgctgtggtaacaggtgtgt	15	9	0	0			TCGA-KS-A4I5-01A-11D-A257-08	TCGA-KS-A4I5-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af67f563-1ff5-4bde-98d3-2a8423cf3dc3	e2e7d21f-54cf-4016-9a52-93ece18ee0d6	g.chr11:113815463G>A	ENST00000260191.2	+	8	1333	c.1076G>A	c.(1075-1077)cGt>cAt	p.R359H	HTR3B_ENST00000537778.1_Missense_Mutation_p.R348H	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	359					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	AGGGCCCAACGTGCTGTGGTA	0.532																																						ENST00000260191.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20						c.(1075-1077)cGt>cAt		5-hydroxytryptamine (serotonin) receptor 3B, ionotropic							156	129	138					11																	113815463		2201	4296	6497	SO:0001583	missense	9177				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113815463G>A	AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5298	protein-coding gene	gene with protein product		604654	"5-hydroxytryptamine (serotonin) receptor 3B"			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.1076G>A	11.37:g.113815463G>A	ENSP00000260191:p.Arg359His					HTR3B_ENST00000537778.1_Missense_Mutation_p.R348H	p.R359H	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	8	1333	+		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	359					B0YJ23|Q0VJC3	Missense_Mutation	SNP	ENST00000260191.2	37	c.1076G>A	CCDS8364.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.638656	0.29157	.	.	ENSG00000149305	ENST00000260191;ENST00000537778	T;T	0.22539	1.95;1.95	5.11	-5.21	0.02815	Neurotransmitter-gated ion-channel transmembrane domain (1);	1.885990	0.01948	N	0.042405	T	0.08846	0.0219	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.16837	-1.0389	10	0.36615	T	0.2	4.6974	1.3729	0.02214	0.3098:0.358:0.148:0.1841	.	348;359	O95264-2;O95264	.;5HT3B_HUMAN	H	359;348	ENSP00000260191:R359H;ENSP00000443118:R348H	ENSP00000260191:R359H	R	+	2	0	HTR3B	113320673	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.468000	0.02350	-0.815000	0.04346	-0.345000	0.07892	CGT		0.532	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398842.1	NM_006028		29	44	0	0	0	1	0	29	44					A	113815463	G	A	113815463	3	1	482	1	0	0	0	0	1	0	0	0	7445	1145	40	1	1106	1	HTR3B	11	113815463	Missense_Mutation	SNP	G	TCGA-KS-A4I5-01A-11D-A257-08	21247259	113815463	21191053	12	9869											
RGS6	9628	broad.mit.edu	37	chr14	72961875	72961875	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagtttaattgcctacacGgaacaatatgtggaatatga	9	6	0	1			TCGA-KS-A4I5-01A-11D-A257-08	TCGA-KS-A4I5-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af67f563-1ff5-4bde-98d3-2a8423cf3dc3	e2e7d21f-54cf-4016-9a52-93ece18ee0d6	g.chr14:72961875G>A	ENST00000553530.1	+	13	1077	c.870G>A	c.(868-870)acG>acA	p.T290T	RGS6_ENST00000407322.4_Silent_p.T290T|RGS6_ENST00000402788.2_Silent_p.T290T|RGS6_ENST00000355512.6_Silent_p.T290T|RGS6_ENST00000406236.4_Silent_p.T290T|RGS6_ENST00000553525.1_Silent_p.T290T|RGS6_ENST00000554782.1_Silent_p.T151T|RGS6_ENST00000434263.2_Silent_p.T221T|RGS6_ENST00000555571.1_Silent_p.T290T|RGS6_ENST00000343854.6_Intron|RGS6_ENST00000556437.1_Silent_p.T290T|RGS6_ENST00000404301.2_Silent_p.T290T	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	290	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TTGCCTACACGGAACAATATG	0.433																																					Ovarian(143;1926 2468 21071 48641)	ENST00000553530.1																			0				endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(868-870)acG>acA		regulator of G-protein signaling 6							189	166	174					14																	72961875		2203	4300	6503	SO:0001819	synonymous_variant	9628				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr14:72961875G>A	AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"Regulators of G-protein signaling"	10002	protein-coding gene	gene with protein product		603894	"regulator of G-protein signalling 6"			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.870G>A	14.37:g.72961875G>A						RGS6_ENST00000434263.2_Silent_p.T221T|RGS6_ENST00000555571.1_Silent_p.T290T|RGS6_ENST00000556437.1_Silent_p.T290T|RGS6_ENST00000402788.2_Silent_p.T290T|RGS6_ENST00000554782.1_Silent_p.T151T|RGS6_ENST00000343854.6_Intron|RGS6_ENST00000407322.4_Silent_p.T290T|RGS6_ENST00000406236.4_Silent_p.T290T|RGS6_ENST00000553525.1_Silent_p.T290T|RGS6_ENST00000404301.2_Silent_p.T290T|RGS6_ENST00000355512.6_Silent_p.T290T	p.T290T	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN		all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)	13	1077	+			290			G protein gamma.		C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Silent	SNP	ENST00000553530.1	37	c.870G>A	CCDS9808.1																																																																																				0.433	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2			6	112	0	0	0	1	0	6	112					A	72961875	G	A	72961875	2	1	482	1	0	0	0	0	0	0	0	1	13309	1103	39	1		1	RGS6	14	72961875	Silent	SNP	G	TCGA-KS-A4I5-01A-11D-A257-08		72961875	34387665	13	9870											
PSMA4	5685	broad.mit.edu	37	chr15	78837982	78837982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctttgttaaaggaaaacGtccctttggtgtttcattgc	8	7	2	0			TCGA-KS-A4I5-01A-11D-A257-08	TCGA-KS-A4I5-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af67f563-1ff5-4bde-98d3-2a8423cf3dc3	e2e7d21f-54cf-4016-9a52-93ece18ee0d6	g.chr15:78837982G>A	ENST00000044462.7	+	7	533	c.383G>A	c.(382-384)cGt>cAt	p.R128H	PSMA4_ENST00000413382.2_Missense_Mutation_p.R57H|PSMA4_ENST00000560217.1_Missense_Mutation_p.R97H|PSMA4_ENST00000559082.1_Missense_Mutation_p.R128H|PSMA4_ENST00000557929.1_3'UTR|PSMA4_ENST00000558094.1_Missense_Mutation_p.R40H|PSMA4_ENST00000558341.1_Intron|PSMA4_ENST00000558281.1_Missense_Mutation_p.R128H	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 4	128					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 ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|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)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						AAAGGAAAACGTCCCTTTGGT	0.408																																						ENST00000044462.7																			0				kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(382-384)cGt>cAt		proteasome (prosome, macropain) subunit, alpha type, 4							200	198	199					15																	78837982		2196	4293	6489	SO:0001583	missense	5685				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|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity	g.chr15:78837982G>A	BC005361	CCDS10303.1, CCDS45319.1	15q24.1	2004-01-19			ENSG00000041357	ENSG00000041357		"Proteasome (prosome, macropain) subunits"	9533	protein-coding gene	gene with protein product		176846				2025653	Standard	NM_002789		Approved	HC9, HsT17706	uc010blf.3	P25789	OTTHUMG00000143859	ENST00000044462.7:c.383G>A	15.37:g.78837982G>A	ENSP00000044462:p.Arg128His					PSMA4_ENST00000558094.1_Missense_Mutation_p.R40H|PSMA4_ENST00000560217.1_Missense_Mutation_p.R97H|PSMA4_ENST00000559082.1_Missense_Mutation_p.R128H|PSMA4_ENST00000558341.1_Intron|PSMA4_ENST00000557929.1_3'UTR|PSMA4_ENST00000413382.2_Missense_Mutation_p.R57H|PSMA4_ENST00000558281.1_Missense_Mutation_p.R128H	p.R128H	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN			7	533	+			128					D3DW86|Q53XP2|Q567Q5|Q8TBD1	Missense_Mutation	SNP	ENST00000044462.7	37	c.383G>A	CCDS10303.1	.	.	.	.	.	.	.	.	.	.	G	32	5.182317	0.94885	.	.	ENSG00000041357	ENST00000413382;ENST00000044462	T;T	0.29655	1.56;1.56	6.08	5.17	0.71159	.	0.044138	0.85682	D	0.000000	T	0.72645	0.3486	H	0.99026	4.405	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85025	0.0914	10	0.87932	D	0	-10.1268	15.4166	0.74974	0.0663:0.0:0.9337:0.0	.	128	P25789	PSA4_HUMAN	H	57;128	ENSP00000402118:R57H;ENSP00000044462:R128H	ENSP00000044462:R128H	R	+	2	0	PSMA4	76625037	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.575000	0.98187	1.586000	0.49944	0.591000	0.81541	CGT		0.408	PSMA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290107.5	NM_002789		46	62	0	0	0	1	0	46	62					A	78837982	G	A	78837982	3	1	482	1	0	0	0	0	1	0	0	0	12669	1145	40	1	405	1	PSMA4	15	78837982	Missense_Mutation	SNP	G	TCGA-KS-A4I5-01A-11D-A257-08		78837982	23693410	14	9871											
C17orf59	54785	broad.mit.edu	37	chr17	8093098	8093098	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acggcagtccctcccggaggAgggcttgccctcgggcggcg	17	15	0	0			TCGA-KS-A4I5-01A-11D-A257-08	TCGA-KS-A4I5-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af67f563-1ff5-4bde-98d3-2a8423cf3dc3	e2e7d21f-54cf-4016-9a52-93ece18ee0d6	g.chr17:8093098A>C	ENST00000389017.4	-	1	466	c.361T>G	c.(361-363)Tcc>Gcc	p.S121A	MIR3676_ENST00000579470.1_RNA	NM_017622.2	NP_060092.2	Q96GS4	CQ059_HUMAN	chromosome 17 open reading frame 59	121										large_intestine(2)|lung(3)|urinary_tract(1)	6						CTCCCGGAGGAGGGCTTGCCC	0.731																																						ENST00000389017.4																			0				large_intestine(2)|lung(3)|urinary_tract(1)	6						c.(361-363)Tcc>Gcc		chromosome 17 open reading frame 59							8	9	9					17																	8093098		1795	3741	5536	SO:0001583	missense	54785							g.chr17:8093098A>C	BC018880	CCDS11133.2	17p13.1	2005-12-16			ENSG00000196544	ENSG00000196544			25939	protein-coding gene	gene with protein product						12477932	Standard	NM_017622		Approved	FLJ20014	uc010vut.2	Q96GS4	OTTHUMG00000153930	ENST00000389017.4:c.361T>G	17.37:g.8093098A>C	ENSP00000373669:p.Ser121Ala						p.S121A	NM_017622.2	NP_060092.2	Q96GS4	CQ059_HUMAN			1	466	-			121					Q53HS4|Q9NXW8	Missense_Mutation	SNP	ENST00000389017.4	37	c.361T>G	CCDS11133.2	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.936579	0.00484	.	.	ENSG00000196544	ENST00000389017	.	.	.	5.41	2.08	0.27032	.	0.784045	0.10974	N	0.613490	T	0.12860	0.0312	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32851	-0.9891	9	0.02654	T	1	0.816	6.24	0.20785	0.4977:0.4141:0.0:0.0882	.	121	Q96GS4	CQ059_HUMAN	A	121	.	ENSP00000373669:S121A	S	-	1	0	C17orf59	8033823	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	0.279000	0.18771	0.247000	0.21414	-0.217000	0.12591	TCC		0.731	C17orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333072.1	NM_017622		6	12	0	0	0	1	0	6	12					C	8093098	A	C	8093098	3	2	482	1	0	0	0	0	1	0	0	0	1867	304	11	5	716	5	C17orf59	17	8093098	Missense_Mutation	SNP	A	TCGA-KS-A4I5-01A-11D-A257-08		8093098	73102112	15	9872											
KRT31	3881	broad.mit.edu	37	chr17	39551564	39551564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctcagctcgatgatctccGcctggtaggactgcagctgc	12	13	2	1	rs147688319		TCGA-KS-A4I5-01A-11D-A257-08	TCGA-KS-A4I5-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af67f563-1ff5-4bde-98d3-2a8423cf3dc3	e2e7d21f-54cf-4016-9a52-93ece18ee0d6	g.chr17:39551564G>A	ENST00000251645.2	-	5	861	c.809C>T	c.(808-810)gCg>gTg	p.A270V		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	270	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)	p.A270V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GATGATCTCCGCCTGGTAGGA	0.592																																						ENST00000251645.2																			1	Substitution - Missense(1)	p.A270V(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(808-810)gCg>gTg		keratin 31		G	VAL/ALA	0,4406		0,0,2203	129	117	122		809	5.4	0.9	17	dbSNP_134	122	2,8598	2.2+/-6.3	0,2,4298	no	missense	KRT31	NM_002277.2	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	270/417	39551564	2,13004	2203	4300	6503	SO:0001583	missense	3881				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39551564G>A	X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"-", "Intermediate filaments type I, keratins (acidic)"	6448	protein-coding gene	gene with protein product	"hard keratin type I 1"	601077	"keratin, hair, acidic, 1"	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.809C>T	17.37:g.39551564G>A	ENSP00000251645:p.Ala270Val						p.A270V	NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN			5	861	-		Breast(137;0.000496)	270			Coil 2.|Rod.		Q9UE12	Missense_Mutation	SNP	ENST00000251645.2	37	c.809C>T	CCDS11391.1	.	.	.	.	.	.	.	.	.	.	g	18.50	3.637352	0.67130	0.0	2.33E-4	ENSG00000094796	ENST00000251645	T	0.78003	-1.14	5.36	5.36	0.76844	Filament (1);	0.098275	0.45606	D	0.000354	T	0.74726	0.3754	L	0.39147	1.195	0.43007	D	0.994538	P	0.47106	0.89	B	0.43386	0.418	T	0.79100	-0.1942	10	0.72032	D	0.01	.	18.1561	0.89692	0.0:0.0:1.0:0.0	.	270	Q15323	K1H1_HUMAN	V	270	ENSP00000251645:A270V	ENSP00000251645:A270V	A	-	2	0	KRT31	36805090	0.027000	0.19231	0.931000	0.37212	0.729000	0.41735	2.051000	0.41307	2.512000	0.84698	0.558000	0.71614	GCG		0.592	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	NM_002277		5	120	0	0	0	1	0	5	120					A	39551564	G	A	39551564	3	1	482	1	0	0	0	0	1	0	0	0	8467	1087	38	1	453	1	KRT31	17	39551564	Missense_Mutation	SNP	G	TCGA-KS-A4I5-01A-11D-A257-08	31458466	39551564	41643646	16	9873											
ZNF181	339318	broad.mit.edu	37	chr19	35232275	35232275	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgaactgtggaaagtcttTtagtcgtgtgtcccatctta	9	7	2	1			TCGA-KS-A4I5-01A-11D-A257-08	TCGA-KS-A4I5-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af67f563-1ff5-4bde-98d3-2a8423cf3dc3	e2e7d21f-54cf-4016-9a52-93ece18ee0d6	g.chr19:35232275T>C	ENST00000492450.1	+	4	1078	c.989T>C	c.(988-990)tTt>tCt	p.F330S	ZNF181_ENST00000459757.2_Missense_Mutation_p.F329S|ZNF181_ENST00000392232.3_Missense_Mutation_p.F374S			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	330					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.F266S(1)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GGAAAGTCTTTTAGTCGTGTG	0.398																																						ENST00000392232.3																			1	Substitution - Missense(1)	p.F266S(1)	prostate(1)	endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22						c.(1120-1122)tTt>tCt		zinc finger protein 181							82	81	81					19																	35232275		2203	4300	6503	SO:0001583	missense	339318				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35232275T>C	BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"Zinc fingers, C2H2-type", "-"	12971	protein-coding gene	gene with protein product		606741	"zinc finger protein 181 (HHZ181)"				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.989T>C	19.37:g.35232275T>C	ENSP00000420727:p.Phe330Ser					ZNF181_ENST00000459757.1_Missense_Mutation_p.F329S|ZNF181_ENST00000492450.1_Missense_Mutation_p.F330S	p.F374S			Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		6	1289	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		330					B7ZKX3|Q49A75	Missense_Mutation	SNP	ENST00000492450.1	37	c.1121T>C	CCDS32990.2	.	.	.	.	.	.	.	.	.	.	T	17.07	3.295411	0.60086	.	.	ENSG00000197841	ENST00000392232;ENST00000425140;ENST00000492450;ENST00000459757	T;T;T	0.47869	0.83;0.83;0.83	2.99	2.99	0.34606	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.70622	0.3245	M	0.90019	3.08	0.37232	D	0.905749	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78259	-0.2273	9	0.87932	D	0	.	9.7095	0.40236	0.0:0.0:0.0:1.0	.	329;330	B7ZKX3;Q2M3W8	.;ZN181_HUMAN	S	374;329;330;329	ENSP00000376065:F374S;ENSP00000420727:F330S;ENSP00000419435:F329S	ENSP00000376065:F374S	F	+	2	0	ZNF181	39924115	1.000000	0.71417	0.992000	0.48379	0.930000	0.56654	6.786000	0.75094	1.604000	0.50143	0.459000	0.35465	TTT		0.398	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997		4	76	0	0	0	1	0	4	76					C	35232275	T	C	35232275	3	2	482	1	0	0	0	0	1	0	0	0	17746	1841	64	3	1003	3	ZNF181	19	35232275	Missense_Mutation	SNP	T	TCGA-KS-A4I5-01A-11D-A257-08		35232275	23896708	17	9874											
LILRA1	11024	broad.mit.edu	37	chr19	55107397	55107397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccctggacatcctgatcGcaggtgaggagcccagcggg	14	14	0	2	rs149029653	byFrequency	TCGA-KS-A4I5-01A-11D-A257-08	TCGA-KS-A4I5-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af67f563-1ff5-4bde-98d3-2a8423cf3dc3	e2e7d21f-54cf-4016-9a52-93ece18ee0d6	g.chr19:55107397G>A	ENST00000251372.3	+	6	1137	c.955G>A	c.(955-957)Gca>Aca	p.A319T	LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000453777.1_Intron|LILRA1_ENST00000473156.1_3'UTR	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	319					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CATCCTGATCGCAGGTGAGGA	0.682													a|||	17	0.00339457	0.0106	0	5008	,	,		14307	0.001		0.001	False		,,,				2504	0.001					ENST00000251372.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47						c.(955-957)Gca>Aca		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1							19	28	25					19																	55107397		2190	4285	6475	SO:0001583	missense	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55107397G>A	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.955G>A	19.37:g.55107397G>A	ENSP00000251372:p.Ala319Thr					LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000418536.2_Intron	p.A319T	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	6	1137	+			319					O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	c.955G>A	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	g	0.012	-1.690489	0.00738	.	.	ENSG00000104974	ENST00000251372	T	0.00637	6.05	1.73	-3.45	0.04781	Immunoglobulin subtype (1);	0.886112	0.09212	N	0.833168	T	0.00356	0.0011	N	0.02391	-0.57	0.09310	N	1	B	0.26081	0.141	B	0.24848	0.056	T	0.42749	-0.9433	10	0.14656	T	0.56	.	8.3553	0.32327	0.7419:0.0:0.2581:0.0	.	319	O75019	LIRA1_HUMAN	T	319	ENSP00000251372:A319T	ENSP00000251372:A319T	A	+	1	0	LILRA1	59799209	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-5.248000	0.00138	-1.641000	0.01523	-1.031000	0.02408	GCA		0.682	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		4	72	0	0	0	1	0	4	72					A	55107397	G	A	55107397	3	1	482	1	0	0	0	0	1	0	0	0	8784	1087	38	1	973	1	LILRA1	19	55107397	Missense_Mutation	SNP	G	TCGA-KS-A4I5-01A-11D-A257-08	19875122	55107397	4021586	18	9875											
SPEN	23013	broad.mit.edu	37	chr1	16258731	16258731	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtggaccccaagggaaaaAgggaaaaaatgaaccgaagg	14	6	0	1			TCGA-KS-A4I7-01A-11D-A257-08	TCGA-KS-A4I7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1653ae34-a8b7-4e15-9f41-abcffdd739b7	058e791c-92fb-4781-a27a-719d1f10755c	g.chr1:16258731A>G	ENST00000375759.3	+	11	6200	c.5996A>G	c.(5995-5997)aAg>aGg	p.K1999R		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1999					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CAAGGGAAAAAGGGAAAAAAT	0.567																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(5995-5997)aAg>aGg		spen family transcriptional repressor							31	31	31					1																	16258731		2202	4299	6501	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16258731A>G		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.5996A>G	1.37:g.16258731A>G	ENSP00000364912:p.Lys1999Arg						p.K1999R	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	6200	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	1999					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.5996A>G	CCDS164.1	.	.	.	.	.	.	.	.	.	.	A	5.236	0.228946	0.09916	.	.	ENSG00000065526	ENST00000375759	T	0.12774	2.65	4.84	-1.87	0.07737	.	.	.	.	.	T	0.06508	0.0167	N	0.11201	0.11	0.30968	N	0.7229	B	0.16603	0.018	B	0.12156	0.007	T	0.41197	-0.9522	9	0.21540	T	0.41	-2.6049	10.2457	0.43339	0.8218:0.0:0.1782:0.0	.	1999	Q96T58	MINT_HUMAN	R	1999	ENSP00000364912:K1999R	ENSP00000364912:K1999R	K	+	2	0	SPEN	16131318	1.000000	0.71417	0.979000	0.43373	0.212000	0.24457	0.907000	0.28531	-0.516000	0.06470	0.379000	0.24179	AAG		0.567	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		3	36	0	0	0	1	0	3	36					G	16258731	A	G	16258731	3	3	483	1	0	0	0	0	1	0	0	0	15037	72	3	3	6038	3	SPEN	1	16258731	Missense_Mutation	SNP	A	TCGA-KS-A4I7-01A-11D-A257-08		16258731	232991890	1	9876											
TPR	7175	broad.mit.edu	37	chr1	186295347	186295347	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcttcatcatcatcatcatcTtcctcatcctcttcataatc	0	15	10	0			TCGA-KS-A4I7-01A-11D-A257-08	TCGA-KS-A4I7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1653ae34-a8b7-4e15-9f41-abcffdd739b7	058e791c-92fb-4781-a27a-719d1f10755c	g.chr1:186295347T>A	ENST00000367478.4	-	41	6206	c.5910A>T	c.(5908-5910)gaA>gaT	p.E1970D		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1970					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		catcatcatcttcctcatcct	0.423			T	NTRK1	papillary thyroid																																	ENST00000367478.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(5908-5910)gaA>gaT		translocated promoter region, nuclear basket protein							85	81	82					1																	186295347		2051	4201	6252	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186295347T>A	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.5910A>T	1.37:g.186295347T>A	ENSP00000356448:p.Glu1970Asp						p.E1970D	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	41	6206	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	1970					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.5910A>T	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	T	7.511	0.654686	0.14580	.	.	ENSG00000047410	ENST00000367478	T	0.26223	1.75	4.03	-2.02	0.07388	.	0.537430	0.21170	N	0.078984	T	0.11623	0.0283	L	0.33245	0.995	0.38644	D	0.951674	B	0.02656	0.0	B	0.01281	0.0	T	0.23048	-1.0199	10	0.14252	T	0.57	.	1.1977	0.01878	0.3482:0.0847:0.2471:0.3199	.	1970	P12270	TPR_HUMAN	D	1970	ENSP00000356448:E1970D	ENSP00000356448:E1970D	E	-	3	2	TPR	184561970	0.892000	0.30473	0.761000	0.31378	0.642000	0.38348	-0.416000	0.07097	-0.338000	0.08413	-0.313000	0.08912	GAA		0.423	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		3	15	0	0	0	1	0	3	15					A	186295347	T	A	186295347	3	1	483	1	0	0	0	0	1	0	0	0	16413	1606	56	5	1225	5	TPR	1	186295347	Missense_Mutation	SNP	T	TCGA-KS-A4I7-01A-11D-A257-08	170036616	186295347	62955274	2	9877											
MYT1L	23040	broad.mit.edu	37	chr2	1947077	1947078	+	Frame_Shift_Ins	INS	-	-	T													ctgtttatcttgtgtttttcINStttttttcgccaagggacaa							TCGA-KS-A4I7-01A-11D-A257-08	TCGA-KS-A4I7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1653ae34-a8b7-4e15-9f41-abcffdd739b7	058e791c-92fb-4781-a27a-719d1f10755c	g.chr2:1947077_1947078insT	ENST00000399161.2	-	9	928_929	c.181_182insA	c.(181-183)agafs	p.R61fs	MYT1L_ENST00000428368.2_Frame_Shift_Ins_p.R61fs	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	61					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TTGTGTTTTTCTTTTTTTCGCC	0.406																																						ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(181-183)aaafs		myelin transcription factor 1-like																																				SO:0001589	frameshift_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1947077_1947078insT	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.182dupA	2.37:g.1947084_1947084dupT	ENSP00000382114:p.Arg61fs					MYT1L_ENST00000428368.2_Frame_Shift_Ins_p.K61fs	p.K61fs	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	9	928_929	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	61					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Frame_Shift_Ins	INS	ENST00000399161.2	37	c.181_182insA																																																																																					0.406	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		2	4						2	4	---	---	---	---	T	1947078	-	T	1947077	7	5	483	1	0	1	1	0	0	0	0	0	10107	913	32	0	3440	0	MYT1L	2	1947077	Frame_Shift_Ins	INS	-	TCGA-KS-A4I7-01A-11D-A257-08		1947077	241252296	3	9878											
ERBB4	2066	broad.mit.edu	37	chr2	212589892	212589892	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtccgtagcatctgccgtcaCattgttctgcacacaccgtc	8	15	3	0			TCGA-KS-A4I7-01A-11D-A257-08	TCGA-KS-A4I7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1653ae34-a8b7-4e15-9f41-abcffdd739b7	058e791c-92fb-4781-a27a-719d1f10755c	g.chr2:212589892C>A	ENST00000342788.4	-	6	960	c.650G>T	c.(649-651)tGt>tTt	p.C217F	ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000436443.1_Missense_Mutation_p.C217F|ERBB4_ENST00000402597.1_Missense_Mutation_p.C217F	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	217	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	TCTGCCGTCACATTGTTCTGC	0.512										TSP Lung(8;0.080)																												ENST00000342788.4																			0				NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(649-651)tGt>tTt		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							147	128	134					2																	212589892		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212589892C>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.650G>T	2.37:g.212589892C>A	ENSP00000342235:p.Cys217Phe	TSP Lung(8;0.080)				ERBB4_ENST00000436443.1_Missense_Mutation_p.C217F|ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000402597.1_Missense_Mutation_p.C217F	p.C217F	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	6	960	-		Renal(323;0.06)|Lung NSC(271;0.197)	217			Cys-rich.		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.650G>T	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.160164|5.160164	0.94727|0.94727	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597|ENST00000260943	T;T;T|.	0.50813|.	0.73;0.73;0.73|.	5.73|5.73	5.73|5.73	0.89815|0.89815	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88503|0.88503	0.6454|0.6454	H|H	0.95982|0.95982	3.75|3.75	0.80722|0.80722	D|D	1|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|.	0.999;1.0;1.0;0.999;1.0|.	D|D	0.91479|0.91479	0.5203|0.5203	10|5	0.87932|.	D|.	0|.	.|.	19.8973|19.8973	0.96972|0.96972	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	217;217;76;217;217|.	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303|.	.;.;.;.;ERBB4_HUMAN|.	F|L	217|217	ENSP00000342235:C217F;ENSP00000403204:C217F;ENSP00000385565:C217F|.	ENSP00000342235:C217F|.	C|V	-|-	2|1	0|0	ERBB4|ERBB4	212298137|212298137	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	7.818000|7.818000	0.86416|0.86416	2.710000|2.710000	0.92621|0.92621	0.650000|0.650000	0.86243|0.86243	TGT|GTG		0.512	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		3	40	1	0	0.00024832	1	0.00024832	3	40					A	212589892	C	A	212589892	3	1	483	1	0	0	0	0	1	0	0	0	5209	478	17	4	3368	4	ERBB4	2	212589892	Missense_Mutation	SNP	C	TCGA-KS-A4I7-01A-11D-A257-08	210642815	212589892	30609481	4	9879											
NOTCH4	4855	broad.mit.edu	37	chr6	32164797	32164797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccagcatcaagggtgtgGtcccgtcctctgtgcgagcg	14	13	2	0			TCGA-KS-A4I7-01A-11D-A257-08	TCGA-KS-A4I7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1653ae34-a8b7-4e15-9f41-abcffdd739b7	058e791c-92fb-4781-a27a-719d1f10755c	g.chr6:32164797G>A	ENST00000375023.3	-	28	5243	c.5105C>T	c.(5104-5106)aCc>aTc	p.T1702I	GPSM3_ENST00000375043.3_5'Flank|NOTCH4_ENST00000443903.2_Missense_Mutation_p.T111I	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1702					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CAAGGGTGTGGTCCCGTCCTC	0.602																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(5104-5106)aCc>aTc		notch 4							129	126	127					6																	32164797		1511	2708	4219	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32164797G>A		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.5105C>T	6.37:g.32164797G>A	ENSP00000364163:p.Thr1702Ile					NOTCH4_ENST00000443903.2_Missense_Mutation_p.T111I	p.T1702I	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			28	5243	-			1702					B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.5105C>T	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883771	0.91814	.	.	ENSG00000204301	ENST00000375023;ENST00000443903	T;T	0.64438	-0.1;-0.05	4.75	4.75	0.60458	Ankyrin repeat-containing domain (3);	0.000000	0.46758	D	0.000276	T	0.58264	0.2110	N	0.21324	0.655	0.58432	D	0.999991	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.997;0.999;0.997	T	0.57923	-0.7727	9	.	.	.	.	15.2847	0.73819	0.0:0.0:1.0:0.0	.	111;111;1702;1701	B4DEL8;B4DFM3;Q99466;B0S882	.;.;NOTC4_HUMAN;.	I	1702;111	ENSP00000364163:T1702I;ENSP00000398123:T111I	.	T	-	2	0	NOTCH4	32272775	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.109000	0.94291	2.474000	0.83562	0.561000	0.74099	ACC		0.602	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			13	75	0	0	0	1	0	13	75					A	32164797	G	A	32164797	3	1	483	1	0	0	0	0	1	0	0	0	10551	1261	44	2	918	2	NOTCH4	6	32164797	Missense_Mutation	SNP	G	TCGA-KS-A4I7-01A-11D-A257-08		32164797	138950270	5	9880											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-KS-A4I7-01A-11D-A257-08	TCGA-KS-A4I7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1653ae34-a8b7-4e15-9f41-abcffdd739b7	058e791c-92fb-4781-a27a-719d1f10755c	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		9	13	0	0	0	1	0	9	13					T	140453136	A	T	140453136	3	4	483	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-KS-A4I7-01A-11D-A257-08		140453136	18685527	6	9881											
ZNF688	146542	broad.mit.edu	37	chr16	30581350	30581351	+	Frame_Shift_Ins	INS	-	-	C													ccaggcctccggccccgccgINSccccccggagcaggagcggt					rs528760504		TCGA-KS-A4I7-01A-11D-A257-08	TCGA-KS-A4I7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1653ae34-a8b7-4e15-9f41-abcffdd739b7	058e791c-92fb-4781-a27a-719d1f10755c	g.chr16:30581350_30581351insC	ENST00000223459.6	-	3	1821_1822	c.717_718insG	c.(715-720)gggcggfs	p.R240fs	ZNF688_ENST00000395219.1_Frame_Shift_Ins_p.R226fs|AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	240					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(3)|large_intestine(2)|lung(2)|ovary(1)	8						CGGCCCCGCCGCCCCCCGGAGC	0.708																																						ENST00000223459.6																			0				endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						c.(715-720)ggggcgfs		zinc finger protein 688																																				SO:0001589	frameshift_variant	146542				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30581350_30581351insC	AK122680	CCDS10684.1	16p11.2	2013-01-08			ENSG00000229809	ENSG00000229809		"Zinc fingers, C2H2-type", "-"	30489	protein-coding gene	gene with protein product						10493829	Standard	XM_005255139		Approved		uc002dys.2	P0C7X2	OTTHUMG00000132408	ENST00000223459.6:c.718dupG	16.37:g.30581356_30581356dupC	ENSP00000223459:p.Arg240fs					ZNF688_ENST00000395219.1_Frame_Shift_Ins_p.A226fs	p.A240fs	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN			3	1821_1822	-			240					A8MV39|B3KV51|O75701|Q8IW91|Q8WV14|Q96MN0	Frame_Shift_Ins	INS	ENST00000223459.6	37	c.717_718insG	CCDS10684.1																																																																																				0.708	ZNF688-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255544.2	NM_145271		11	65						11	65	---	---	---	---	C	30581351	-	C	30581350	7	5	483	1	0	1	1	0	0	0	0	0	18090	1086	38	0	116	0	ZNF688	16	30581350	Frame_Shift_Ins	INS	-	TCGA-KS-A4I7-01A-11D-A257-08		30581350	59773403	7	9882											
EDA	1896	broad.mit.edu	37	chrX	68836236	68836237	+	Frame_Shift_Ins	INS	-	-	G													gccagggctgcgggtgtggcINSggggcccctgcccgggcggg							TCGA-KS-A4I7-01A-11D-A257-08	TCGA-KS-A4I7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1653ae34-a8b7-4e15-9f41-abcffdd739b7	058e791c-92fb-4781-a27a-719d1f10755c	g.chrX:68836236_68836237insG	ENST00000374552.4	+	1	326_327	c.84_85insG	c.(85-87)gggfs	p.G29fs	EDA_ENST00000338901.3_Frame_Shift_Ins_p.G29fs|EDA_ENST00000502251.1_3'UTR|EDA_ENST00000524573.1_Frame_Shift_Ins_p.G29fs|EDA_ENST00000527388.1_Frame_Shift_Ins_p.G29fs|EDA_ENST00000374553.2_Frame_Shift_Ins_p.G29fs|EDA_ENST00000525810.1_Frame_Shift_Ins_p.G29fs	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	29					cell differentiation (GO:0030154)|cell-matrix adhesion (GO:0007160)|ectoderm development (GO:0007398)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|immune response (GO:0006955)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|salivary gland cavitation (GO:0060662)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	apical part of cell (GO:0045177)|collagen trimer (GO:0005581)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						GCGGGTGTGGCGGGGCCCCTGC	0.708																																						ENST00000374552.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						c.(82-87)gggggcfs		ectodysplasin A																																				SO:0001589	frameshift_variant	1896				cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding	g.chrX:68836236_68836237insG	U59227	CCDS14394.1, CCDS35318.1, CCDS35319.1, CCDS43966.1, CCDS35318.2, CCDS35319.2, CCDS55436.1	Xq12-q13.1	2013-05-22	2004-08-09	2004-08-12	ENSG00000158813	ENSG00000158813		"Tumor necrosis factor (ligand) superfamily"	3157	protein-coding gene	gene with protein product		300451	"ectodermal dysplasia 1, anhidrotic", "oligodontia 1"	ED1, EDA2, ODT1		8696334, 18657636, 16583127	Standard	NM_001005612		Approved	EDA1, XLHED, HED, XHED, ED1-A1, ED1-A2, EDA-A1, EDA-A2	uc004dxs.3	Q92838	OTTHUMG00000021764	ENST00000374552.4:c.88dupG	X.37:g.68836240_68836240dupG	ENSP00000363680:p.Gly29fs					EDA_ENST00000525810.1_Frame_Shift_Ins_p.GG28fs|EDA_ENST00000374553.2_Frame_Shift_Ins_p.GG28fs|EDA_ENST00000527388.1_Frame_Shift_Ins_p.GG28fs|EDA_ENST00000502251.1_3'UTR|EDA_ENST00000338901.3_Frame_Shift_Ins_p.GG28fs|EDA_ENST00000524573.1_Frame_Shift_Ins_p.GG28fs	p.GG28fs	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN			1	326_327	+			28					A0AUZ2|A2A337|B7ZLU2|B7ZLU4|O75910|Q5JS00|Q5JUM7|Q9UP77|Q9Y6L0|Q9Y6L1|Q9Y6L2|Q9Y6L3|Q9Y6L4	Frame_Shift_Ins	INS	ENST00000374552.4	37	c.84_85insG	CCDS14394.1																																																																																				0.708	EDA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057048.2	NM_001399		15	74						15	74	---	---	---	---	G	68836237	-	G	68836236	7	5	483	1	0	1	1	0	0	0	0	0	4903	755	27	0	86	0	EDA	23	68836236	Frame_Shift_Ins	INS	-	TCGA-KS-A4I7-01A-11D-A257-08		68836236	86434324	8	9883											
MST1R	4486	broad.mit.edu	37	chr3	49924789	49924789	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccggggccggcgtacattcCctggcatgggtgagaactgc	16	12	0	1	rs137882771	byFrequency	TCGA-KS-A4I9-01A-11D-A257-08	TCGA-KS-A4I9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793cb62b-2e51-4307-9d52-3335cc63054d	7e5e2a63-f999-4600-b2ef-341036a6259e	g.chr3:49924789C>A	ENST00000296474.3	-	20	4181	c.4154G>T	c.(4153-4155)gGg>gTg	p.G1385V	MST1R_ENST00000344206.4_Missense_Mutation_p.G1336V	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1385					cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GCGTACATTCCCTGGCATGGG	0.587																																						ENST00000296474.3																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.(4153-4155)gGg>gTg		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)		C	VAL/GLY	2,4404	4.2+/-10.8	0,2,2201	112	105	107		4154	3.3	0.0	3	dbSNP_134	107	14,8586	10.5+/-38.8	0,14,4286	yes	missense	MST1R	NM_002447.2	109	0,16,6487	AA,AC,CC		0.1628,0.0454,0.123	possibly-damaging	1385/1401	49924789	16,12990	2203	4300	6503	SO:0001583	missense	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49924789C>A	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"CD molecules"	7381	protein-coding gene	gene with protein product		600168	"PTK8 protein tyrosine kinase 8"	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.4154G>T	3.37:g.49924789C>A	ENSP00000296474:p.Gly1385Val					MST1R_ENST00000344206.4_Missense_Mutation_p.G1336V	p.G1385V	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	20	4181	-			1385					B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	37	c.4154G>T	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.725694	0.30593	4.54E-4	0.001628	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.73363	-0.73;-0.74	5.08	3.27	0.37495	.	0.282019	0.39407	N	0.001371	T	0.62073	0.2398	L	0.44542	1.39	0.09310	N	0.999992	B	0.24092	0.097	B	0.20767	0.031	T	0.49184	-0.8966	10	0.28530	T	0.3	-8.8398	8.0347	0.30486	0.0:0.8141:0.0:0.1859	.	1385	Q04912	RON_HUMAN	V	1385;1336	ENSP00000296474:G1385V;ENSP00000341325:G1336V	ENSP00000296474:G1385V	G	-	2	0	MST1R	49899793	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.479000	0.22228	0.831000	0.34780	0.655000	0.94253	GGG		0.587	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			6	103	1	0	0.00198382	1	0.00198382	6	103					A	49924789	C	A	49924789	3	1	484	1	0	0	0	0	1	0	0	0	9891	623	22	4	52	4	MST1R	3	49924789	Missense_Mutation	SNP	C	TCGA-KS-A4I9-01A-11D-A257-08		49924789	148097641	1	9884											
SLCO4C1	353189	broad.mit.edu	37	chr5	101599455	101599455	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caatacatagccaatagcagGgcctaagattgacatagcat	8	9	0	2			TCGA-KS-A4I9-01A-11D-A257-08	TCGA-KS-A4I9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793cb62b-2e51-4307-9d52-3335cc63054d	7e5e2a63-f999-4600-b2ef-341036a6259e	g.chr5:101599455G>C	ENST00000310954.6	-	4	1118	c.832C>G	c.(832-834)Cct>Gct	p.P278A		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CCAATAGCAGGGCCTAAGATT	0.373																																						ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(832-834)Cct>Gct		solute carrier organic anion transporter family, member 4C1							147	141	143					5																	101599455		2203	4300	6503	SO:0001583	missense	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101599455G>C	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"Solute carriers"	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.832C>G	5.37:g.101599455G>C	ENSP00000309741:p.Pro278Ala						p.P278A	NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	4	1118	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	278						Missense_Mutation	SNP	ENST00000310954.6	37	c.832C>G	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134953	0.77662	.	.	ENSG00000173930	ENST00000310954	T	0.80653	-1.4	5.24	5.24	0.73138	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000002	D	0.90933	0.7150	M	0.87682	2.9	0.44175	D	0.99698	D	0.61080	0.989	D	0.67382	0.951	D	0.92138	0.5718	10	0.72032	D	0.01	.	19.1822	0.93628	0.0:0.0:1.0:0.0	.	278	Q6ZQN7	SO4C1_HUMAN	A	278	ENSP00000309741:P278A	ENSP00000309741:P278A	P	-	1	0	SLCO4C1	101627354	1.000000	0.71417	0.999000	0.59377	0.852000	0.48524	6.781000	0.75068	2.598000	0.87819	0.650000	0.86243	CCT		0.373	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		21	41	0	0	0	1	0	21	41					C	101599455	G	C	101599455	3	2	484	1	0	0	0	0	1	0	0	0	14730	1232	43	4	1382	4	SLCO4C1	5	101599455	Missense_Mutation	SNP	G	TCGA-KS-A4I9-01A-11D-A257-08		101599455	79315805	2	9885											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-KS-A4I9-01A-11D-A257-08	TCGA-KS-A4I9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793cb62b-2e51-4307-9d52-3335cc63054d	7e5e2a63-f999-4600-b2ef-341036a6259e	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		12	50	0	0	0	1	0	12	50					T	140453136	A	T	140453136	3	4	484	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-KS-A4I9-01A-11D-A257-08		140453136	18685527	3	9886											
STAR	6770	broad.mit.edu	37	chr8	38005761	38005761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcttggttgctaaggatgCccaaggccttctgcatggcc	11	13	2	0			TCGA-KS-A4I9-01A-11D-A257-08	TCGA-KS-A4I9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793cb62b-2e51-4307-9d52-3335cc63054d	7e5e2a63-f999-4600-b2ef-341036a6259e	g.chr8:38005761C>T	ENST00000276449.4	-	3	709	c.263G>A	c.(262-264)gGc>gAc	p.G88D	RP11-90P5.2_ENST00000520598.1_RNA	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	88	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				bile acid biosynthetic process (GO:0006699)|biphenyl metabolic process (GO:0018879)|brain development (GO:0007420)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth hormone stimulus (GO:0071378)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-alpha (GO:0035457)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to luteinizing hormone stimulus (GO:0071373)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cholesterol metabolic process (GO:0008203)|circadian sleep/wake cycle, REM sleep (GO:0042747)|dibenzo-p-dioxin metabolic process (GO:0018894)|diterpenoid metabolic process (GO:0016101)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|glucocorticoid metabolic process (GO:0008211)|insecticide metabolic process (GO:0017143)|intracellular cholesterol transport (GO:0032367)|male gonad development (GO:0008584)|negative regulation of neuron apoptotic process (GO:0043524)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of gene expression (GO:0010628)|positive regulation of neurogenesis (GO:0050769)|progesterone biosynthetic process (GO:0006701)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of steroid biosynthetic process (GO:0050810)|response to activity (GO:0014823)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to hydrogen peroxide (GO:0042542)|response to ionizing radiation (GO:0010212)|response to lead ion (GO:0010288)|response to leptin (GO:0044321)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytosol (GO:0005829)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	cholesterol binding (GO:0015485)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		GCTAAGGATGCCCAAGGCCTT	0.582																																						ENST00000276449.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						c.(262-264)gGc>gAc		steroidogenic acute regulatory protein							102	70	81					8																	38005761		2203	4300	6503	SO:0001583	missense	6770				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity	g.chr8:38005761C>T	BC010550	CCDS6102.1	8p11.2	2011-09-13	2007-05-15		ENSG00000147465	ENSG00000147465		"StAR-related lipid transfer (START) domain containing"	11359	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 1"	600617	"steroidogenic acute regulator"			7761400	Standard	NM_000349		Approved	StAR, STARD1	uc003xkv.1	P49675	OTTHUMG00000164058	ENST00000276449.4:c.263G>A	8.37:g.38005761C>T	ENSP00000276449:p.Gly88Asp						p.G88D	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN		READ - Rectum adenocarcinoma(644;0.188)	3	709	-	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)	88			START.		Q16396	Missense_Mutation	SNP	ENST00000276449.4	37	c.263G>A	CCDS6102.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.23|10.23	1.292698|1.292698	0.23564|0.23564	.|.	.|.	ENSG00000147465|ENSG00000147465	ENST00000522050|ENST00000276449;ENST00000522753;ENST00000521236	.|T;T	.|0.77877	.|-1.13;-1.13	5.43|5.43	5.43|5.43	0.79202|0.79202	.|Lipid-binding START (3);START-like domain (1);	.|0.176191	.|0.64402	.|D	.|0.000015	T|T	0.66665|0.66665	0.2812|0.2812	L|L	0.39898|0.39898	1.24|1.24	0.33119|0.33119	D|D	0.541502|0.541502	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.08055	.|0.003;0.003	T|T	0.65384|0.65384	-0.6181|-0.6181	5|10	.|0.19590	.|T	.|0.45	-28.2361|-28.2361	10.145|10.145	0.42758|0.42758	0.0:0.8511:0.0:0.1489|0.0:0.8511:0.0:0.1489	.|.	.|50;88	.|E7ETA9;P49675	.|.;STAR_HUMAN	T|D	67|88;50;6	.|ENSP00000276449:G88D;ENSP00000430030:G6D	.|ENSP00000276449:G88D	A|G	-|-	1|2	0|0	STAR|STAR	38124918|38124918	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.917000|0.917000	0.54804|0.54804	2.862000|2.862000	0.48388|0.48388	2.709000|2.709000	0.92574|0.92574	0.491000|0.491000	0.48974|0.48974	GCA|GGC		0.582	STAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376990.2	NM_000349		13	25	0	0	0	1	0	13	25					T	38005761	C	T	38005761	3	4	484	1	0	0	0	0	1	0	0	0	15253	739	26	2	614	2	STAR	8	38005761	Missense_Mutation	SNP	C	TCGA-KS-A4I9-01A-11D-A257-08		38005761	108358261	4	9887											
ZFP41	286128	broad.mit.edu	37	chr8	144332178	144332178	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagccctgcctgagtcctgaAgacgaagagcacgtctttga	12	11	1	5			TCGA-KS-A4I9-01A-11D-A257-08	TCGA-KS-A4I9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793cb62b-2e51-4307-9d52-3335cc63054d	7e5e2a63-f999-4600-b2ef-341036a6259e	g.chr8:144332178A>C	ENST00000330701.4	+	2	534	c.165A>C	c.(163-165)gaA>gaC	p.E55D	ZFP41_ENST00000520584.1_Missense_Mutation_p.E55D|ZFP41_ENST00000522452.1_Missense_Mutation_p.E55D	NM_173832.4	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	55					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			TGAGTCCTGAAGACGAAGAGC	0.547																																						ENST00000330701.4																			0				breast(1)|endometrium(2)|lung(4)|ovary(1)	8						c.(163-165)gaA>gaC		ZFP41 zinc finger protein							58	64	62					8																	144332178		2203	4300	6503	SO:0001583	missense	286128				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144332178A>C		CCDS6397.1	8q24.3	2013-01-08	2012-11-27		ENSG00000181638	ENSG00000181638		"Zinc fingers, C2H2-type"	26786	protein-coding gene	gene with protein product			"zinc finger protein 41 homolog (mouse)"			11214971	Standard	NM_173832		Approved	FLJ38705, FLJ00028, ZNF753	uc003yxw.4	Q8N8Y5	OTTHUMG00000164951	ENST00000330701.4:c.165A>C	8.37:g.144332178A>C	ENSP00000327427:p.Glu55Asp					ZFP41_ENST00000522452.1_Missense_Mutation_p.E55D|ZFP41_ENST00000520584.1_Missense_Mutation_p.E55D	p.E55D	NM_173832.3	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		2	534	+	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		55					D3DWJ5	Missense_Mutation	SNP	ENST00000330701.4	37	c.165A>C	CCDS6397.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.932471	0.73442	.	.	ENSG00000181638	ENST00000520584;ENST00000330701;ENST00000522452	T;T;T	0.06849	3.25;3.25;3.25	2.82	-5.65	0.02459	.	.	.	.	.	T	0.04770	0.0129	N	0.24115	0.695	0.09310	N	1	P	0.43477	0.808	B	0.30179	0.112	T	0.11131	-1.0600	9	0.72032	D	0.01	-12.9248	14.9625	0.71166	0.1997:0.0:0.8003:0.0	.	55	Q8N8Y5	ZFP41_HUMAN	D	55	ENSP00000430465:E55D;ENSP00000327427:E55D;ENSP00000428966:E55D	ENSP00000327427:E55D	E	+	3	2	ZFP41	144403553	0.000000	0.05858	0.000000	0.03702	0.630000	0.37929	-2.790000	0.00767	-1.743000	0.01340	-0.516000	0.04426	GAA		0.547	ZFP41-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381114.2	NM_173832		18	27	0	0	0	1	0	18	27					C	144332178	A	C	144332178	3	2	484	1	0	0	0	0	1	0	0	0	17646	69	3	5	167	5	ZFP41	8	144332178	Missense_Mutation	SNP	A	TCGA-KS-A4I9-01A-11D-A257-08	106326417	144332178	2031844	5	9888											
NOLC1	9221	broad.mit.edu	37	chr10	103912209	103912209	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgtggttcccagcgacctGtatcccctcgtgctcggctt	11	16	0	0	rs116928523	byFrequency	TCGA-KS-A4I9-01A-11D-A257-08	TCGA-KS-A4I9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793cb62b-2e51-4307-9d52-3335cc63054d	7e5e2a63-f999-4600-b2ef-341036a6259e	g.chr10:103912209G>A	ENST00000605788.1	+	1	277	c.42G>A	c.(40-42)ctG>ctA	p.L14L	NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000405356.1_Silent_p.L14L|NOLC1_ENST00000488254.2_Silent_p.L14L	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	14	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.				cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		CCAGCGACCTGTATCCCCTCG	0.622													G|||	12	0.00239617	0	0.0029	5008	,	,		18127	0		0.007	False		,,,				2504	0.0031					ENST00000405356.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31						c.(40-42)ctG>ctA		nucleolar and coiled-body phosphoprotein 1		G		6,4400	11.4+/-27.6	0,6,2197	84	80	81		42	2.2	1.0	10	dbSNP_132	81	62,8538	39.8+/-96.3	0,62,4238	no	coding-synonymous	NOLC1	NM_004741.3		0,68,6435	AA,AG,GG		0.7209,0.1362,0.5228		14/700	103912209	68,12938	2203	4300	6503	SO:0001819	synonymous_variant	9221				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	g.chr10:103912209G>A	Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.42G>A	10.37:g.103912209G>A						NOLC1_ENST00000605788.1_Silent_p.L14L|NOLC1_ENST00000488254.2_Silent_p.L14L|NOLC1_ENST00000603742.1_5'UTR	p.L14L			Q14978	NOLC1_HUMAN		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)	1	277	+		Colorectal(252;0.122)	14			LisH.		Q15030|Q5VV70|Q9BUV3	Silent	SNP	ENST00000605788.1	37	c.42G>A	CCDS7530.1																																																																																				0.622	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741		5	67	0	0	0	1	0	5	67					A	103912209	G	A	103912209	2	1	484	1	0	0	0	0	0	0	0	1	10529	1364	48	2		2	NOLC1	10	103912209	Silent	SNP	G	TCGA-KS-A4I9-01A-11D-A257-08		103912209	31622538	6	9889											
STARD3	10948	broad.mit.edu	37	chr17	37809863	37809863	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctccctgggctcctcactgTcccacagccagagcctctcc	7	21	2	1			TCGA-KS-A4I9-01A-11D-A257-08	TCGA-KS-A4I9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793cb62b-2e51-4307-9d52-3335cc63054d	7e5e2a63-f999-4600-b2ef-341036a6259e	g.chr17:37809863T>G	ENST00000336308.5	+	2	297	c.79T>G	c.(79-81)Tcc>Gcc	p.S27A	STARD3_ENST00000580611.1_Missense_Mutation_p.S27A|STARD3_ENST00000544210.2_Missense_Mutation_p.S27A|STARD3_ENST00000578232.1_Intron|STARD3_ENST00000394250.4_Missense_Mutation_p.S27A	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	27					cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|mitochondrial transport (GO:0006839)|progesterone biosynthetic process (GO:0006701)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	cholesterol binding (GO:0015485)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTCCTCACTGTCCCACAGCCA	0.662											OREG0024381	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000336308.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14						c.(79-81)Tcc>Gcc		StAR-related lipid transfer (START) domain containing 3							78	66	70					17																	37809863		2203	4300	6503	SO:0001583	missense	0				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity	g.chr17:37809863T>G		CCDS11341.1, CCDS54117.1, CCDS54118.1	17q11-q12	2011-09-12	2007-08-16		ENSG00000131748	ENSG00000131748		"StAR-related lipid transfer (START) domain containing"	17579	protein-coding gene	gene with protein product		607048	"START domain containing 3"				Standard	NM_006804		Approved	es64, MLN64	uc002hsd.3	Q14849	OTTHUMG00000133213	ENST00000336308.5:c.79T>G	17.37:g.37809863T>G	ENSP00000337446:p.Ser27Ala		OREG0024381	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	873	STARD3_ENST00000580611.1_Missense_Mutation_p.S27A|STARD3_ENST00000394250.4_Missense_Mutation_p.S27A|STARD3_ENST00000544210.2_Missense_Mutation_p.S27A|STARD3_ENST00000578232.1_Intron	p.S27A	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		2	297	+	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		27					A8MXA4|B4DUY1|F5H0G2|Q53Y53|Q96HM9	Missense_Mutation	SNP	ENST00000336308.5	37	c.79T>G	CCDS11341.1	.	.	.	.	.	.	.	.	.	.	T	8.806	0.934008	0.18206	.	.	ENSG00000131748	ENST00000336308;ENST00000544210;ENST00000394250;ENST00000443521	D;D;D;T	0.85629	-1.91;-2.01;-1.95;0.81	4.33	3.22	0.36961	.	0.188893	0.47852	D	0.000208	T	0.75591	0.3870	L	0.32530	0.975	0.42783	D	0.993877	P;P;B;B	0.43788	0.787;0.817;0.104;0.104	B;B;B;B	0.42343	0.384;0.369;0.079;0.079	T	0.74087	-0.3778	10	0.44086	T	0.13	.	5.741	0.18094	0.1505:0.0851:0.0:0.7644	.	27;27;27;27	F5H0G2;B4DWG5;A8MXA4;Q14849	.;.;.;STAR3_HUMAN	A	27	ENSP00000337446:S27A;ENSP00000439869:S27A;ENSP00000377794:S27A;ENSP00000411710:S27A	ENSP00000337446:S27A	S	+	1	0	STARD3	35063389	1.000000	0.71417	0.999000	0.59377	0.123000	0.20343	1.841000	0.39240	1.742000	0.51746	0.260000	0.18958	TCC		0.662	STARD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256933.1			17	23	0	0	0	1	0	17	23					G	37809863	T	G	37809863	3	3	484	1	0	0	0	0	1	0	0	0	15256	1667	58	5	81	5	STARD3	17	37809863	Missense_Mutation	SNP	T	TCGA-KS-A4I9-01A-11D-A257-08		37809863	43385347	7	9890											
KRT33B	3884	broad.mit.edu	37	chr17	39525654	39525654	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgtggtgcccacctcctcaCcttctgctggagctcctcaa	9	16	3	0			TCGA-KS-A4I9-01A-11D-A257-08	TCGA-KS-A4I9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793cb62b-2e51-4307-9d52-3335cc63054d	7e5e2a63-f999-4600-b2ef-341036a6259e	g.chr17:39525654C>A	ENST00000251646.3	-	1	398		c.e1+1			NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B						aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				CACCTCCTCACCTTCTGCTGG	0.507																																						ENST00000251646.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.e1+1		keratin 33B							64	62	63					17																	39525654		2193	4300	6493	SO:0001630	splice_region_variant	3884					intermediate filament	protein binding|structural molecule activity	g.chr17:39525654C>A	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"-", "Intermediate filaments type I, keratins (acidic)"	6451	protein-coding gene	gene with protein product	"hard keratin type I 3II"	602762	"keratin, hair, acidic, 3B"	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.348+1G>T	17.37:g.39525654C>A								NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN			1	398	-		Breast(137;0.000496)						O76010	Splice_Site	SNP	ENST00000251646.3	37		CCDS11389.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.712125	0.68730	.	.	ENSG00000131738	ENST00000251646	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.522	0.84319	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KRT33B	36779180	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.068000	0.76748	2.434000	0.82447	0.650000	0.86243	.		0.507	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279	Intron	14	34	1	0	2.62699e-14	1	3.04731e-14	14	34					A	39525654	C	A	39525654	5	1	484	1	0	0	0	0	0	0	1	0	8470	521	18	4	893	4	KRT33B	17	39525654	Splice_Site	SNP	C	TCGA-KS-A4I9-01A-11D-A257-08	1715791	39525654	41669556	8	9891											
SMURF2	64750	broad.mit.edu	37	chr17	62542046	62542046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcatagctttcatagggtgGaatgtctattcgattgaagc	10	6	3	1			TCGA-KS-A4I9-01A-11D-A257-08	TCGA-KS-A4I9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793cb62b-2e51-4307-9d52-3335cc63054d	7e5e2a63-f999-4600-b2ef-341036a6259e	g.chr17:62542046G>A	ENST00000262435.9	-	19	2354	c.2167C>T	c.(2167-2169)Cca>Tca	p.P723S		NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	723	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				BMP signaling pathway (GO:0030509)|gene expression (GO:0010467)|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)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|SMAD binding (GO:0046332)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TCATAGGGTGGAATGTCTATT	0.368																																						ENST00000262435.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22						c.(2167-2169)Cca>Tca		SMAD specific E3 ubiquitin protein ligase 2							143	138	140					17																	62542046		2203	4300	6503	SO:0001583	missense	64750				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity	g.chr17:62542046G>A	AF301463	CCDS32707.1	17q22-q23	2012-10-05			ENSG00000108854	ENSG00000108854			16809	protein-coding gene	gene with protein product		605532				11016919	Standard	XM_005257585		Approved		uc002jep.1	Q9HAU4	OTTHUMG00000179189	ENST00000262435.9:c.2167C>T	17.37:g.62542046G>A	ENSP00000262435:p.Pro723Ser						p.P723S	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;9.88e-12)		19	2354	-	Breast(5;1.32e-14)		723			HECT.		Q52LL1|Q9H260	Missense_Mutation	SNP	ENST00000262435.9	37	c.2167C>T	CCDS32707.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.430305	0.62844	.	.	ENSG00000108854	ENST00000262435	T	0.70869	-0.52	5.42	5.42	0.78866	HECT (4);	0.000000	0.85682	D	0.000000	D	0.89132	0.6628	H	0.96662	3.86	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92170	0.5743	10	0.72032	D	0.01	.	14.4438	0.67336	0.0727:0.0:0.9273:0.0	.	723	Q9HAU4	SMUF2_HUMAN	S	723	ENSP00000262435:P723S	ENSP00000262435:P723S	P	-	1	0	SMURF2	59972508	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.600000	0.82769	2.538000	0.85594	0.561000	0.74099	CCA		0.368	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445227.1	NM_022739		19	26	0	0	0	1	0	19	26					A	62542046	G	A	62542046	3	1	484	1	0	0	0	0	1	0	0	0	14820	1174	41	2	83	2	SMURF2	17	62542046	Missense_Mutation	SNP	G	TCGA-KS-A4I9-01A-11D-A257-08	23016392	62542046	18653164	9	9892											
POTEC	388468	broad.mit.edu	37	chr18	14533105	14533105	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	actctctggccgtctgtccaGatagatcttgagaagataca	9	10	3	4	rs45610131	byFrequency	TCGA-KS-A4I9-01A-11D-A257-08	TCGA-KS-A4I9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793cb62b-2e51-4307-9d52-3335cc63054d	7e5e2a63-f999-4600-b2ef-341036a6259e	g.chr18:14533105G>C	ENST00000358970.5	-	5	1009	c.1010C>G	c.(1009-1011)tCt>tGt	p.S337C	POTEC_ENST00000389891.4_5'UTR|RNU6-1021P_ENST00000363262.1_RNA	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	337				S -> C (in Ref. 2; AAI40941). {ECO:0000305}.						NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CGTCTGTCCAGATAGATCTTG	0.358																																						ENST00000358970.5																			0				NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1009-1011)tCt>tGt		POTE ankyrin domain family, member C																																				SO:0001583	missense	388468							g.chr18:14533105G>C	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33894	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 6"		"ANKRD26-like family B, member 2"	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1010C>G	18.37:g.14533105G>C	ENSP00000351856:p.Ser337Cys					POTEC_ENST00000389891.4_5'UTR	p.S337C	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			5	1009	-			337	S -> C (in Ref. 2; AAI40941).					Missense_Mutation	SNP	ENST00000358970.5	37	c.1010C>G	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	G	0.148	-1.094692	0.01858	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.66280	-0.2	1.09	-2.18	0.07037	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.56558	0.1993	L	0.37697	1.125	0.80722	P	0.0	D	0.64830	0.994	P	0.60345	0.873	T	0.52238	-0.8602	8	0.38643	T	0.18	.	0.092	0.00040	0.2399:0.2135:0.2549:0.2917	.	337	B2RU33	POTEC_HUMAN	C	337	ENSP00000351856:S337C	ENSP00000351856:S337C	S	-	2	0	POTEC	14523105	0.000000	0.05858	0.001000	0.08648	0.035000	0.12851	-2.190000	0.01247	-1.507000	0.01803	0.194000	0.17425	TCT		0.358	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		6	120	0	0	0	1	0	6	120					C	14533105	G	C	14533105	3	2	484	1	0	0	0	0	1	0	0	0	12262	942	33	4	646	4	POTEC	18	14533105	Missense_Mutation	SNP	G	TCGA-KS-A4I9-01A-11D-A257-08		14533105	63544143	10	9893											
ZNF135	7694	broad.mit.edu	37	chr19	58578512	58578512	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacaaatgtcaggaatgcggAaaggcctttagtcacagctc	10	9	2	0	rs377403678		TCGA-KS-A4I9-01A-11D-A257-08	TCGA-KS-A4I9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793cb62b-2e51-4307-9d52-3335cc63054d	7e5e2a63-f999-4600-b2ef-341036a6259e	g.chr19:58578512A>G	ENST00000313434.5	+	5	761	c.660A>G	c.(658-660)ggA>ggG	p.G220G	ZNF135_ENST00000439855.2_Silent_p.G220G|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000511556.1_Silent_p.G232G|ZNF135_ENST00000506786.1_Silent_p.G178G|ZNF135_ENST00000401053.4_Silent_p.G244G|ZNF135_ENST00000359978.6_Silent_p.G232G	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	220					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AGGAATGCGGAAAGGCCTTTA	0.473																																						ENST00000506786.1																			0				breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41						c.(532-534)ggA>ggG		zinc finger protein 135		A	GLU/LYS,,,	0,4406		0,0,2203	120	111	114		337,696,696,732	0.0	0.1	19		114	1,8599	1.2+/-3.3	0,1,4299	no	missense,coding-synonymous,coding-synonymous,coding-synonymous	ZNF135	NM_001164529.1,NM_001164530.1,NM_003436.3,NM_007134.1	56,,,	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	,,,	113/116,232/391,232/671,244/683	58578512	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58578512A>G	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"Zinc fingers, C2H2-type", "-"	12919	protein-coding gene	gene with protein product		604077	"zinc finger protein 61", "zinc finger protein 135 (clone pHZ-17)"	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.660A>G	19.37:g.58578512A>G						ZNF135_ENST00000439855.2_Silent_p.G220G|ZNF135_ENST00000359978.6_Silent_p.G232G|ZNF135_ENST00000313434.5_Silent_p.G220G|ZNF135_ENST00000401053.4_Silent_p.G244G|ZNF135_ENST00000511556.1_Silent_p.G232G	p.G178G			B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	5	1088	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	232					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Silent	SNP	ENST00000313434.5	37	c.534A>G		.	.	.	.	.	.	.	.	.	.	A	0.083	-1.180860	0.01633	0.0	1.16E-4	ENSG00000176293	ENST00000391699	.	.	.	3.51	0.0332	0.14179	.	.	.	.	.	T	0.45498	0.1345	.	.	.	0.51482	D	0.999921	.	.	.	.	.	.	T	0.24404	-1.0161	4	.	.	.	.	4.1973	0.10450	0.4541:0.3487:0.1972:0.0	.	.	.	.	G	238	.	.	E	+	2	0	ZNF135	63270324	0.000000	0.05858	0.135000	0.22099	0.038000	0.13279	-1.184000	0.03076	-0.178000	0.10672	-0.472000	0.04984	GAA		0.473	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		6	119	0	0	0	1	0	6	119					G	58578512	A	G	58578512	2	3	484	1	0	0	0	0	0	0	0	1	17722	247	9	3		3	ZNF135	19	58578512	Silent	SNP	A	TCGA-KS-A4I9-01A-11D-A257-08		58578512	550471	11	9894											
FBLN1	2192	broad.mit.edu	37	chr22	45970525	45970525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccttccgcgagttcacccGccctgaaggtgagtgggatg	13	12	1	2			TCGA-KS-A4I9-01A-11D-A257-08	TCGA-KS-A4I9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793cb62b-2e51-4307-9d52-3335cc63054d	7e5e2a63-f999-4600-b2ef-341036a6259e	g.chr22:45970525G>A	ENST00000327858.6	+	15	1927	c.1832G>A	c.(1831-1833)cGc>cAc	p.R611H	FBLN1_ENST00000348697.2_Missense_Mutation_p.R611H	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	611					embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GAGTTCACCCGCCCTGAAGGT	0.627																																						ENST00000348697.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30						c.(1831-1833)cGc>cAc		fibulin 1							104	63	77					22																	45970525		2203	4300	6503	SO:0001583	missense	2192				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr22:45970525G>A		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"Fibulins"	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1832G>A	22.37:g.45970525G>A	ENSP00000331544:p.Arg611His					FBLN1_ENST00000327858.6_Missense_Mutation_p.R611H	p.R611H			P23142	FBLN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	18	1979	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	611					B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	ENST00000327858.6	37	c.1832G>A	CCDS14067.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.149207	0.37923	.	.	ENSG00000077942	ENST00000348697;ENST00000327858	D;D	0.83591	-1.65;-1.74	5.12	1.8	0.24995	.	0.581068	0.18082	N	0.152275	T	0.69115	0.3075	N	0.24115	0.695	0.09310	N	1	B	0.17465	0.022	B	0.08055	0.003	T	0.57069	-0.7874	10	0.45353	T	0.12	.	7.8422	0.29406	0.2768:0.0:0.7232:0.0	.	611	P23142	FBLN1_HUMAN	H	611	ENSP00000262723:R611H;ENSP00000331544:R611H	ENSP00000331544:R611H	R	+	2	0	FBLN1	44349189	0.916000	0.31088	0.916000	0.36221	0.894000	0.52154	0.873000	0.28052	0.143000	0.18926	0.563000	0.77884	CGC		0.627	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486		5	15	0	0	0	1	0	5	15					A	45970525	G	A	45970525	3	1	484	1	0	0	0	0	1	0	0	0	5698	1087	38	1	2370	1	FBLN1	22	45970525	Missense_Mutation	SNP	G	TCGA-KS-A4I9-01A-11D-A257-08		45970525	5334041	12	9895											
PLEKHN1	84069	broad.mit.edu	37	chr1	902110	902113	+	Frame_Shift_Del	DEL	GCCT	GCCT	-													cagcgcgcggatgtcggccgGcctgccgggccccgaggctg							TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr1:902110_902113delGCCT	ENST00000379409.2	+	2	140_143	c.110_113delGCCT	c.(109-114)ggcctgfs	p.GL37fs	PLEKHN1_ENST00000379410.3_Frame_Shift_Del_p.GL37fs|PLEKHN1_ENST00000379407.3_Frame_Shift_Del_p.GL37fs			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	37										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		ATGTCGGCCGGCCTGCCGGGCCCC	0.74																																						ENST00000379409.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9						c.(109-114)ggfs		pleckstrin homology domain containing, family N member 1																																				SO:0001589	frameshift_variant	84069							g.chr1:902110_902113delGCCT	AL136730	CCDS4.1, CCDS53256.1	1p36.33	2013-01-11			ENSG00000187583	ENSG00000187583		"Pleckstrin homology (PH) domain containing"	25284	protein-coding gene	gene with protein product						11230166	Standard	NM_032129		Approved	DKFZP434H2010	uc001acd.3	Q494U1	OTTHUMG00000040756	ENST00000379409.2:c.110_113delGCCT	1.37:g.902110_902113delGCCT	ENSP00000368719:p.Gly37fs					PLEKHN1_ENST00000379410.3_Frame_Shift_Del_p.GL37fs|PLEKHN1_ENST00000379407.2_Frame_Shift_Del_p.GL37fs	p.GL37fs			Q494U1	PKHN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	2	140_143	+	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)	37					Q494U2|Q5SV98|Q9H0M7	Frame_Shift_Del	DEL	ENST00000379409.2	37	c.110_113delGCCT																																																																																					0.74	PLEKHN1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000473256.1	NM_032129		5	1						5	1	---	---	---	---	-	902113	GCCT	-	902110	7	5	485	1	0	1	0	1	0	0	0	0	12083	1203	42	0	116	0	PLEKHN1	1	902110	Frame_Shift_Del	DEL	GCCT	TCGA-KS-A4IB-01A-11D-A257-08		902110	248348511	1	9896											
ATAD3B	83858	broad.mit.edu	37	chr1	1420422	1420422	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggctgacgctgctggctgtCggggtctactcagccaagaa	15	11	2	2			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr1:1420422C>T	ENST00000308647.7	+	8	893	c.777C>T	c.(775-777)gtC>gtT	p.V259V		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	259						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	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;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|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;0.145)		TGCTGGCTGTCGGGGTCTACT	0.682																																						ENST00000308647.7																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10						c.(775-777)gtC>gtT		ATPase family, AAA domain containing 3B							14	18	17					1																	1420422		2161	4204	6365	SO:0001819	synonymous_variant	83858						ATP binding|nucleoside-triphosphatase activity	g.chr1:1420422C>T	AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"ATPases / AAA-type"	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.777C>T	1.37:g.1420422C>T							p.V259V	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|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;0.145)	8	893	+	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)	259					A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Silent	SNP	ENST00000308647.7	37	c.777C>T	CCDS30.1																																																																																				0.682	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2	NM_031921		3	21	0	0	0	1	0	3	21					T	1420422	C	T	1420422	2	4	485	1	0	0	0	0	0	0	0	1	1074	871	31	1		1	ATAD3B	1	1420422	Silent	SNP	C	TCGA-KS-A4IB-01A-11D-A257-08	518312	1420422	247830199	2	9897											
PDE4B	5142	broad.mit.edu	37	chr1	66379023	66379023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaagcaggagtgtgatgaCggtgatggctgatgatgtaa	16	3	0	5			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr1:66379023C>T	ENST00000329654.4	+	2	213	c.26C>T	c.(25-27)aCg>aTg	p.T9M	PDE4B_ENST00000371049.3_Missense_Mutation_p.T9M	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	9					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	AGTGTGATGACGGTGATGGCT	0.403																																						ENST00000329654.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37						c.(25-27)aCg>aTg		phosphodiesterase 4B, cAMP-specific	Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)						146	134	138					1																	66379023		2203	4300	6503	SO:0001583	missense	5142				signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr1:66379023C>T	L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"Phosphodiesterases"	8781	protein-coding gene	gene with protein product	"phosphodiesterase E4 dunce homolog (Drosophila)"	600127	"phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)", "phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.26C>T	1.37:g.66379023C>T	ENSP00000332116:p.Thr9Met					PDE4B_ENST00000371049.3_Missense_Mutation_p.T9M	p.T9M	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN			2	213	+			9					A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	ENST00000329654.4	37	c.26C>T	CCDS632.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.442197	0.43326	.	.	ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049	T;T;T	0.70282	-0.47;-0.47;-0.47	4.52	4.52	0.55395	.	0.198762	0.29653	N	0.011554	T	0.67363	0.2885	N	0.22421	0.69	0.29335	N	0.866422	D	0.76494	0.999	D	0.75020	0.985	T	0.66563	-0.5892	10	0.72032	D	0.01	.	16.3203	0.82949	0.0:1.0:0.0:0.0	.	9	Q07343	PDE4B_HUMAN	M	9	ENSP00000332116:T9M;ENSP00000342637:T9M;ENSP00000360088:T9M	ENSP00000332116:T9M	T	+	2	0	PDE4B	66151611	0.959000	0.32827	0.985000	0.45067	0.856000	0.48823	3.858000	0.55979	2.514000	0.84764	0.557000	0.71058	ACG		0.403	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3	NM_002600		14	24	0	0	0	1	0	14	24					T	66379023	C	T	66379023	3	4	485	1	0	0	0	0	1	0	0	0	11640	536	19	1	28	1	PDE4B	1	66379023	Missense_Mutation	SNP	C	TCGA-KS-A4IB-01A-11D-A257-08	64958601	66379023	182871598	3	9898											
FCRL2	79368	broad.mit.edu	37	chr1	157718364	157718364	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagctttctggctgctgcaTgctccagacctgagaataaa	10	10	1	3			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr1:157718364T>C	ENST00000361516.3	-	10	1486	c.1438A>G	c.(1438-1440)Atg>Gtg	p.M480V	FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	480					cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GGCTGCTGCATGCTCCAGACC	0.458																																						ENST00000361516.3																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51						c.(1438-1440)Atg>Gtg		Fc receptor-like 2							125	120	122					1																	157718364		2203	4300	6503	SO:0001583	missense	79368				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	g.chr1:157718364T>C	AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14875	protein-coding gene	gene with protein product		606509	"SH2 domain-containing phosphatase anchor protein 1"	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.1438A>G	1.37:g.157718364T>C	ENSP00000355157:p.Met480Val					FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Intron	p.M480V	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		10	1486	-	all_hematologic(112;0.0378)		480					A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Missense_Mutation	SNP	ENST00000361516.3	37	c.1438A>G	CCDS1168.1	.	.	.	.	.	.	.	.	.	.	T	0.038	-1.297830	0.01364	.	.	ENSG00000132704	ENST00000361516	T	0.18016	2.24	3.67	1.17	0.20885	.	11.288600	0.00166	U	0.000006	T	0.02156	0.0067	N	0.04508	-0.205	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.04013	0.0;0.001	T	0.34030	-0.9845	10	0.27082	T	0.32	.	4.3318	0.11067	0.2008:0.0:0.2087:0.5905	.	480;227	Q96LA5;Q96LA5-2	FCRL2_HUMAN;.	V	480	ENSP00000355157:M480V	ENSP00000355157:M480V	M	-	1	0	FCRL2	155984988	0.020000	0.18652	0.009000	0.14445	0.009000	0.06853	2.380000	0.44327	0.102000	0.17638	-0.336000	0.08194	ATG		0.458	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2	NM_030764		47	31	0	0	0	1	0	47	31					C	157718364	T	C	157718364	3	2	485	1	0	0	0	0	1	0	0	0	5795	1464	51	3	100	3	FCRL2	1	157718364	Missense_Mutation	SNP	T	TCGA-KS-A4IB-01A-11D-A257-08	91339341	157718364	91532257	4	9899											
BSN	8927	broad.mit.edu	37	chr3	49691756	49691756	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcacctactgaaacccagccCaccacccatggctacagcca	5	19	1	1			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr3:49691756C>G	ENST00000296452.4	+	5	4881	c.4767C>G	c.(4765-4767)ccC>ccG	p.P1589P		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1589					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AAACCCAGCCCACCACCCATG	0.627																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(4765-4767)ccC>ccG		bassoon presynaptic cytomatrix protein							72	66	68					3																	49691756		2203	4300	6503	SO:0001819	synonymous_variant	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49691756C>G	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.4767C>G	3.37:g.49691756C>G							p.P1589P	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	4881	+			1589					O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	c.4767C>G	CCDS2800.1																																																																																				0.627	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		26	50	0	0	0	1	0	26	50					G	49691756	C	G	49691756	2	3	485	1	0	0	0	0	0	0	0	1	1530	581	21	4		4	BSN	3	49691756	Silent	SNP	C	TCGA-KS-A4IB-01A-11D-A257-08		49691756	148330674	5	9900											
TFR2	7036	broad.mit.edu	37	chr7	100230955	100230955	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgacccagtgcagggtgttgGggtgagccctggggagcggg	21	9	0	1			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr7:100230955G>C	ENST00000462107.1	-	6	910	c.623C>G	c.(622-624)cCc>cGc	p.P208R	TFR2_ENST00000223051.3_Missense_Mutation_p.P208R|TFR2_ENST00000544242.1_5'Flank|TFR2_ENST00000431692.1_Missense_Mutation_p.P208R			Q9UP52	TFR2_HUMAN	transferrin receptor 2	208					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	CAGGGTGTTGGGGTGAGCCCT	0.731																																						ENST00000462107.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(622-624)cCc>cGc		transferrin receptor 2							22	27	25					7																	100230955		2202	4299	6501	SO:0001583	missense	7036				cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity	g.chr7:100230955G>C	AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.623C>G	7.37:g.100230955G>C	ENSP00000420525:p.Pro208Arg					TFR2_ENST00000223051.3_Missense_Mutation_p.P208R|TFR2_ENST00000431692.1_Missense_Mutation_p.P208R	p.P208R			Q9UP52	TFR2_HUMAN			6	910	-	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		208					A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Missense_Mutation	SNP	ENST00000462107.1	37	c.623C>G	CCDS34707.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191529	0.78902	.	.	ENSG00000106327	ENST00000223051;ENST00000431692;ENST00000462107	T;T;T	0.45276	0.9;0.9;0.9	5.79	5.79	0.91817	.	0.266511	0.35067	N	0.003461	T	0.27663	0.0680	N	0.08118	0	0.37959	D	0.932905	B	0.13145	0.007	B	0.12156	0.007	T	0.10894	-1.0610	10	0.41790	T	0.15	-20.5372	17.515	0.87770	0.0:0.0:1.0:0.0	.	208	Q9UP52	TFR2_HUMAN	R	208	ENSP00000223051:P208R;ENSP00000413905:P208R;ENSP00000420525:P208R	ENSP00000223051:P208R	P	-	2	0	TFR2	100068891	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.857000	0.55972	2.735000	0.93741	0.561000	0.74099	CCC		0.731	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356392.3	NM_003227		13	15	0	0	0	1	0	13	15					C	100230955	G	C	100230955	3	2	485	1	0	0	0	0	1	0	0	0	15808	1232	43	4	1838	4	TFR2	7	100230955	Missense_Mutation	SNP	G	TCGA-KS-A4IB-01A-11D-A257-08		100230955	58907708	6	9901											
CUX1	1523	broad.mit.edu	37	chr7	101877481	101877481	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggctgaacgaccccaacaatGtggagaagctgatggacatg	13	9	0	3			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr7:101877481G>T	ENST00000292535.7	+	22	3621	c.3583G>T	c.(3583-3585)Gtg>Ttg	p.V1195L	CUX1_ENST00000550008.2_Missense_Mutation_p.V1139L|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Missense_Mutation_p.V1206L|CUX1_ENST00000549414.2_Missense_Mutation_p.V1173L|CUX1_ENST00000546411.2_Missense_Mutation_p.V1093L|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.V1037L	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	1195					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCCCAACAATGTGGAGAAGCT	0.577																																						ENST00000360264.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(3616-3618)Gtg>Ttg		cut-like homeobox 1							70	62	64					7																	101877481		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101877481G>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.3583G>T	7.37:g.101877481G>T	ENSP00000292535:p.Val1195Leu					CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.V1139L|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.V1195L|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.V1037L|CUX1_ENST00000549414.2_Missense_Mutation_p.V1173L|CUX1_ENST00000546411.2_Missense_Mutation_p.V1093L	p.V1206L	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			22	3636	+			1195					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.3616G>T	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	34	5.349823	0.95830	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.64438	-0.06;-0.05;-0.1;-0.1;-0.07;-0.09	5.32	5.32	0.75619	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.74473	0.3721	L	0.43152	1.355	0.80722	D	1	D;D	0.67145	0.967;0.996	D;D	0.77557	0.97;0.99	T	0.76561	-0.2914	10	0.72032	D	0.01	-23.15	19.0082	0.92861	0.0:0.0:1.0:0.0	.	1195;1206	P39880;P39880-3	CUX1_HUMAN;.	L	1206;1195;1173;1139;1093;1037	ENSP00000353401:V1206L;ENSP00000292535:V1195L;ENSP00000446630:V1173L;ENSP00000447373:V1139L;ENSP00000450125:V1093L;ENSP00000451558:V1037L	ENSP00000292535:V1195L	V	+	1	0	CUX1	101664201	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.486000	0.83907	0.655000	0.94253	GTG		0.577	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		30	42	1	0	6.00712e-18	1	6.75801e-18	30	42					T	101877481	G	T	101877481	3	4	485	1	0	0	0	0	1	0	0	0	4064	1377	48	4	3736	4	CUX1	7	101877481	Missense_Mutation	SNP	G	TCGA-KS-A4IB-01A-11D-A257-08	1646526	101877481	57261182	7	9902											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		16	37	0	0	0	1	0	16	37					T	140453136	A	T	140453136	3	4	485	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-KS-A4IB-01A-11D-A257-08	38575655	140453136	18685527	8	9903											
TTPA	7274	broad.mit.edu	37	chr8	63985561	63985561	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggactccatggtagccagcCtttaggaggccaataatact	10	10	0	0	rs368391591		TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr8:63985561C>A	ENST00000260116.4	-	2	322	c.291G>T	c.(289-291)aaG>aaT	p.K97N	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	97	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	GGTAGCCAGCCTTTAGGAGGC	0.383																																						ENST00000260116.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15						c.(289-291)aaG>aaT		tocopherol (alpha) transfer protein	Vitamin E(DB00163)	C	ASN/LYS	0,4406		0,0,2203	107	112	110		291	-2.0	1.0	8		110	1,8599	1.2+/-3.3	0,1,4299	no	missense	TTPA	NM_000370.3	94	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	benign	97/279	63985561	1,13005	2203	4300	6503	SO:0001583	missense	7274				lipid metabolic process		transporter activity|vitamin E binding	g.chr8:63985561C>A	BC058000	CCDS6178.1	8q12.3	2007-07-18	2007-07-16			ENSG00000137561			12404	protein-coding gene	gene with protein product		600415	"ataxia (Friedreich-like) with vitamin E deficiency"	AVED		7719340, 7887897	Standard	NM_000370		Approved		uc003xux.2	P49638		ENST00000260116.4:c.291G>T	8.37:g.63985561C>A	ENSP00000260116:p.Lys97Asn					TTPA_ENST00000521138.1_Intron	p.K97N	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN			2	322	-	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)	97			CRAL-TRIO.		Q71V64	Missense_Mutation	SNP	ENST00000260116.4	37	c.291G>T	CCDS6178.1	.	.	.	.	.	.	.	.	.	.	C	8.714	0.912761	0.17907	0.0	1.16E-4	ENSG00000137561	ENST00000260116	D	0.84298	-1.83	5.8	-2.02	0.07388	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.447368	0.28140	N	0.016452	T	0.59878	0.2226	N	0.08118	0	0.24078	N	0.995952	B	0.06786	0.001	B	0.10450	0.005	T	0.45977	-0.9224	10	0.18710	T	0.47	.	1.5766	0.02626	0.295:0.3029:0.0788:0.3232	.	97	P49638	TTPA_HUMAN	N	97	ENSP00000260116:K97N	ENSP00000260116:K97N	K	-	3	2	TTPA	64148115	0.242000	0.23868	0.990000	0.47175	0.983000	0.72400	-0.341000	0.07811	-0.112000	0.11979	0.643000	0.83706	AAG		0.383	TTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378460.1	NM_000370		27	35	1	0	3.73988e-18	1	4.34309e-18	27	35					A	63985561	C	A	63985561	3	1	485	1	0	0	0	0	1	0	0	0	16733	680	24	4	561	4	TTPA	8	63985561	Missense_Mutation	SNP	C	TCGA-KS-A4IB-01A-11D-A257-08		63985561	82378461	9	9904											
NSUN6	221078	broad.mit.edu	37	chr10	18840835	18840835	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccatgtttggtctctgtcCcattccactacagggtgcat	10	12	1	0			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr10:18840835C>A	ENST00000377304.4	-	9	1406	c.988G>T	c.(988-990)Gga>Tga	p.G330*	NSUN6_ENST00000493816.1_5'Flank	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	330							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						GGTCTCTGTCCCATTCCACTA	0.428																																						ENST00000377304.4																			0				endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(988-990)Gga>Tga		NOP2/Sun domain family, member 6							160	130	140					10																	18840835		2203	4300	6503	SO:0001587	stop_gained	221078						methyltransferase activity|RNA binding	g.chr10:18840835C>A	BC035778	CCDS7130.1	10p13	2014-06-23	2009-11-23	2004-08-26	ENSG00000241058	ENSG00000241058		"NOP2/Sun domain containing"	23529	protein-coding gene	gene with protein product			"NOL1/NOP2/Sun domain family 6", "NOL1/NOP2/Sun domain family, member 6", "ARL5B antisense RNA 1"	NOPD1, ARL5B-AS1			Standard	XM_005252394		Approved	FLJ23743	uc010qcp.1	Q8TEA1	OTTHUMG00000017767	ENST00000377304.4:c.988G>T	10.37:g.18840835C>A	ENSP00000366519:p.Gly330*						p.G330*	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN			9	1406	-			330					B0YJ54	Nonsense_Mutation	SNP	ENST00000377304.4	37	c.988G>T	CCDS7130.1	.	.	.	.	.	.	.	.	.	.	C	43	10.394431	0.99397	.	.	ENSG00000241058	ENST00000377304	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0537	0.97638	0.0:1.0:0.0:0.0	.	.	.	.	X	330	.	ENSP00000366519:G330X	G	-	1	0	NSUN6	18880841	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.276000	0.78559	2.758000	0.94735	0.561000	0.74099	GGA		0.428	NSUN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047083.1	NM_182543		24	56	1	0	6.32553e-13	1	6.90058e-13	24	56					A	18840835	C	A	18840835	4	1	485	1	0	0	0	0	0	1	0	0	10682	632	22	4	433	4	NSUN6	10	18840835	Nonsense_Mutation	SNP	C	TCGA-KS-A4IB-01A-11D-A257-08		18840835	116693912	10	9905											
RET	5979	broad.mit.edu	37	chr10	43601916	43601916	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacacaagcacgctgctcccCggggacacctgggcccagca	11	17	0	0			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr10:43601916C>T	ENST00000355710.3	+	5	1192	c.960C>T	c.(958-960)ccC>ccT	p.P320P	RET_ENST00000340058.5_Silent_p.P320P	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	320					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CGCTGCTCCCCGGGGACACCT	0.657		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"T, Mis, N, F"	ret proto-oncogene	yes	Hirschsprung disease	"E, O"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(958-960)ccC>ccT		ret proto-oncogene	Sunitinib(DB01268)						52	43	46					10																	43601916		2203	4299	6502	SO:0001819	synonymous_variant	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43601916C>T	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.960C>T	10.37:g.43601916C>T						RET_ENST00000340058.5_Silent_p.P320P	p.P320P	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			5	1192	+		Ovarian(717;0.0423)	320					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	ENST00000355710.3	37	c.960C>T	CCDS7200.1																																																																																				0.657	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		13	16	0	0	0	1	0	13	16					T	43601916	C	T	43601916	2	4	485	1	0	0	0	0	0	0	0	1	13235	639	23	1		1	RET	10	43601916	Silent	SNP	C	TCGA-KS-A4IB-01A-11D-A257-08	24761081	43601916	91932831	11	9906											
NYNRIN	57523	broad.mit.edu	37	chr14	24880401	24880401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcagctgaagaagaaccGgagggtgagaggtgaggtgt	19	5	0	5			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr14:24880401G>A	ENST00000382554.3	+	5	2852	c.2534G>A	c.(2533-2535)cGg>cAg	p.R845Q		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	845					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AAGAAGAACCGGAGGGTGAGA	0.597											OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(2533-2535)cGg>cAg		NYN domain and retroviral integrase containing							103	116	112					14																	24880401		2072	4202	6274	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24880401G>A	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.2534G>A	14.37:g.24880401G>A	ENSP00000371994:p.Arg845Gln		OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	774		p.R845Q	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			5	2852	+			845					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.2534G>A	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402356	0.83230	.	.	ENSG00000205978	ENST00000382554	T	0.40756	1.02	5.02	4.13	0.48395	Ribonuclease Zc3h12a-like (1);	.	.	.	.	T	0.37625	0.1010	N	0.04508	-0.205	0.25126	N	0.990609	D	0.71674	0.998	P	0.60473	0.875	T	0.27938	-1.0059	9	0.87932	D	0	.	10.8765	0.46915	0.0904:0.0:0.9096:0.0	.	845	Q9P2P1	NYNRI_HUMAN	Q	845	ENSP00000371994:R845Q	ENSP00000371994:R845Q	R	+	2	0	NYNRIN	23950241	0.896000	0.30565	1.000000	0.80357	0.988000	0.76386	2.251000	0.43187	1.341000	0.45600	0.467000	0.42956	CGG		0.597	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			7	141	0	0	0	1	0	7	141					A	24880401	G	A	24880401	3	1	485	1	0	0	0	0	1	0	0	0	10796	1116	39	1	2548	1	NYNRIN	14	24880401	Missense_Mutation	SNP	G	TCGA-KS-A4IB-01A-11D-A257-08		24880401	82469139	12	9907											
HIF1A	3091	broad.mit.edu	37	chr14	62203750	62203750	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagcctctttgacaaacttaAgaaggaacctgatgctttaa	7	8	1	3			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr14:62203750A>G	ENST00000337138.4	+	9	1437	c.1172A>G	c.(1171-1173)aAg>aGg	p.K391R	HIF1A_ENST00000394997.1_Missense_Mutation_p.K392R|HIF1A_ENST00000323441.6_Missense_Mutation_p.K391R|HIF1A_ENST00000557538.1_Missense_Mutation_p.K332R|HIF1A_ENST00000539097.1_Missense_Mutation_p.K415R|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A-AS2_ENST00000554254.1_lincRNA	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	391	Interaction with TSGA10. {ECO:0000250}.|N-terminal VHL recognition site.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|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, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	GACAAACTTAAGAAGGAACCT	0.393																																						ENST00000394997.1																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23						c.(1174-1176)aAg>aGg		hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)							99	95	97					14																	62203750		2203	4300	6503	SO:0001583	missense	3091				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:62203750A>G	U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"Basic helix-loop-helix proteins"	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.1172A>G	14.37:g.62203750A>G	ENSP00000338018:p.Lys391Arg					RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000557538.1_Missense_Mutation_p.K332R|HIF1A_ENST00000323441.6_Missense_Mutation_p.K391R|HIF1A_ENST00000539097.1_Missense_Mutation_p.K415R|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000337138.4_Missense_Mutation_p.K391R	p.K392R			Q16665	HIF1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	9	1440	+			391			Interaction with TSGA10 (By similarity).|N-terminal VHL recognition site.		C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP	ENST00000337138.4	37	c.1175A>G	CCDS9753.1	.	.	.	.	.	.	.	.	.	.	A	30	5.051455	0.93793	.	.	ENSG00000100644	ENST00000539494;ENST00000394988;ENST00000337138;ENST00000394997;ENST00000323441;ENST00000557538;ENST00000539097	T;T;T;T;T	0.61392	0.23;0.23;0.11;0.2;0.22	5.99	5.99	0.97316	.	0.042952	0.85682	D	0.000000	T	0.79919	0.4529	M	0.87269	2.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.83482	0.0065	10	0.87932	D	0	.	16.4947	0.84236	1.0:0.0:0.0:0.0	.	392;391;391	A8MYV6;D0VY79;Q16665	.;.;HIF1A_HUMAN	R	142;332;391;392;391;332;415	ENSP00000338018:K391R;ENSP00000378446:K392R;ENSP00000323326:K391R;ENSP00000451696:K332R;ENSP00000437955:K415R	ENSP00000323326:K391R	K	+	2	0	HIF1A	61273503	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.331000	0.96430	2.300000	0.77407	0.519000	0.50382	AAG		0.393	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276977.2	NM_001530		19	25	0	0	0	1	0	19	25					G	62203750	A	G	62203750	3	3	485	1	0	0	0	0	1	0	0	0	7103	72	3	3	1206	3	HIF1A	14	62203750	Missense_Mutation	SNP	A	TCGA-KS-A4IB-01A-11D-A257-08	37323349	62203750	45145790	13	9908											
NIPA1	123606	broad.mit.edu	37	chr15	23048861	23048861	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	catattagatttgttcatctCcccaaggttgaaattgaact	6	8	2	3			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr15:23048861C>G	ENST00000337435.4	-	5	982	c.958G>C	c.(958-960)Gag>Cag	p.E320Q	NIPA1_ENST00000538684.1_Missense_Mutation_p.E150Q|NIPA1_ENST00000561183.1_Missense_Mutation_p.E245Q|NIPA1_ENST00000437912.2_Missense_Mutation_p.E245Q	NM_001142275.1|NM_144599.4	NP_001135747.1|NP_653200.2	Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	320					cell death (GO:0008219)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		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;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		TTGTTCATCTCCCCAAGGTTG	0.478																																						ENST00000437912.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15						c.(733-735)Gag>Cag		non imprinted in Prader-Willi/Angelman syndrome 1							85	82	83					15																	23048861		2203	4300	6503	SO:0001583	missense	123606				cell death	early endosome|integral to membrane|plasma membrane		g.chr15:23048861C>G	BK001020	CCDS73691.1, CCDS73692.1	15q11.2	2006-10-06			ENSG00000170113	ENSG00000170113			17043	protein-coding gene	gene with protein product		608145	"spastic paraplegia 6 (autosomal dominant)"	SPG6		14508710	Standard	NM_144599		Approved	MGC35570	uc001yvc.3	Q7RTP0	OTTHUMG00000129099	ENST00000337435.4:c.958G>C	15.37:g.23048861C>G	ENSP00000337452:p.Glu320Gln					NIPA1_ENST00000561183.1_Missense_Mutation_p.E245Q|NIPA1_ENST00000538684.1_Missense_Mutation_p.E150Q|NIPA1_ENST00000337435.4_Missense_Mutation_p.E320Q	p.E245Q			Q7RTP0	NIPA1_HUMAN		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)	5	2030	-		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)	320					B2RA76|Q5HYA9|Q7KZB0|Q86XW4	Missense_Mutation	SNP	ENST00000337435.4	37	c.733G>C	CCDS10011.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306024	0.40795	.	.	ENSG00000170113	ENST00000337435;ENST00000437912;ENST00000538684	D;D;T	0.90444	-2.67;-2.42;-1.1	5.74	5.74	0.90152	.	0.254797	0.44688	D	0.000437	D	0.84088	0.5395	N	0.08118	0	0.54753	D	0.999986	B	0.27791	0.189	B	0.34991	0.193	T	0.79453	-0.1797	10	0.22109	T	0.4	-21.4344	19.9111	0.97025	0.0:1.0:0.0:0.0	.	320	Q7RTP0	NIPA1_HUMAN	Q	320;245;150	ENSP00000337452:E320Q;ENSP00000393962:E245Q;ENSP00000440957:E150Q	ENSP00000337452:E320Q	E	-	1	0	NIPA1	20600302	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.933000	0.56545	2.722000	0.93159	0.591000	0.81541	GAG		0.478	NIPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251135.2	NM_144599		12	31	0	0	0	1	0	12	31					G	23048861	C	G	23048861	3	3	485	1	0	0	0	0	1	0	0	0	10422	864	30	4	35	4	NIPA1	15	23048861	Missense_Mutation	SNP	C	TCGA-KS-A4IB-01A-11D-A257-08		23048861	79482531	14	9909											
LRRC49	54839	broad.mit.edu	37	chr15	71300716	71300716	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattatactttgggttttccAggcctctagactcaggactc	8	10	2	1			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr15:71300716A>G	ENST00000260382.5	+	12	1429		c.e12-1		LRRC49_ENST00000436542.2_Splice_Site|LRRC49_ENST00000443425.2_Splice_Site|LRRC49_ENST00000560158.2_Splice_Site|LRRC49_ENST00000544974.2_Splice_Site|LRRC49_ENST00000560691.1_Splice_Site|LRRC49_ENST00000560369.1_Splice_Site	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49							cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TGGGTTTTCCAGGCCTCTAGA	0.363																																						ENST00000260382.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						c.e12-1		leucine rich repeat containing 49							69	72	71					15																	71300716		2199	4296	6495	SO:0001630	splice_region_variant	54839					cytoplasm|microtubule		g.chr15:71300716A>G		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.1170-1A>G	15.37:g.71300716A>G						LRRC49_ENST00000436542.2_Splice_Site|LRRC49_ENST00000560158.2_Splice_Site|LRRC49_ENST00000544974.2_Splice_Site|LRRC49_ENST00000560691.1_Splice_Site|LRRC49_ENST00000443425.2_Splice_Site|LRRC49_ENST00000560369.1_Splice_Site		NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN			12	1429	+								B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Splice_Site	SNP	ENST00000260382.5	37		CCDS32282.1	.	.	.	.	.	.	.	.	.	.	A	16.04	3.010691	0.54361	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2509	0.60052	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRRC49	69087770	1.000000	0.71417	0.970000	0.41538	0.618000	0.37518	7.842000	0.86851	2.005000	0.58758	0.528000	0.53228	.		0.363	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691	Intron	4	37	0	0	0	1	0	4	37					G	71300716	A	G	71300716	5	3	485	1	0	0	0	0	0	0	1	0	9006	202	7	3	1214	3	LRRC49	15	71300716	Splice_Site	SNP	A	TCGA-KS-A4IB-01A-11D-A257-08	48251855	71300716	31230676	15	9910											
DNAH9	1770	broad.mit.edu	37	chr17	11687720	11687720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagctcggaaacttcccggCgtccctgcagaaatccatcc	9	15	0	1			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr17:11687720C>T	ENST00000262442.4	+	41	7993	c.7925C>T	c.(7924-7926)gCg>gTg	p.A2642V	DNAH9_ENST00000454412.2_Missense_Mutation_p.A2642V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2642	AAA 3. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.A2642V(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AACTTCCCGGCGTCCCTGCAG	0.547																																						ENST00000262442.3																			1	Substitution - Missense(1)	p.A2642V(1)	lung(1)	NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(7924-7926)gCg>gTg		dynein, axonemal, heavy chain 9							176	168	171					17																	11687720		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11687720C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7925C>T	17.37:g.11687720C>T	ENSP00000262442:p.Ala2642Val					DNAH9_ENST00000454412.2_Missense_Mutation_p.A2642V	p.A2642V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	41	7993	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2642			AAA 3 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.7925C>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	0.028	-1.356190	0.01245	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.36699	1.24;1.24	5.56	1.35	0.21983	.	0.509864	0.20467	N	0.091774	T	0.17109	0.0411	N	0.20530	0.585	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.13415	-1.0510	10	0.28530	T	0.3	.	1.0538	0.01586	0.2081:0.3493:0.2334:0.2092	.	2642	Q9NYC9	DYH9_HUMAN	V	2642;2642;1224	ENSP00000262442:A2642V;ENSP00000414874:A2642V	ENSP00000262442:A2642V	A	+	2	0	DNAH9	11628445	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.101000	0.10973	0.050000	0.15949	-0.163000	0.13421	GCG		0.547	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		76	99	0	0	0	1	0	76	99					T	11687720	C	T	11687720	3	4	485	1	0	0	0	0	1	0	0	0	4608	768	27	1	8087	1	DNAH9	17	11687720	Missense_Mutation	SNP	C	TCGA-KS-A4IB-01A-11D-A257-08		11687720	69507490	16	9911											
BAGE2	85319	broad.mit.edu	37	chr21	11058322	11058322	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtgcttacaaaatgcacatCgctgaaaggggtaaaggaga	12	6	0	2			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr21:11058322C>T	ENST00000470054.1	-	0	325							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATGCACATCGCTGAAAGGG	0.383																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							92	70	77					21																	11058322		692	1591	2283			85319							g.chr21:11058322C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"cancer/testis antigen family 2, member 2"					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058322C>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	325	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.383	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		7	105	0	0	0	1	0	7	105					T	11058322	C	T	11058322	1	4	485	0	1	0	0	0	0	0	0	0	1292	898	31	1		1	BAGE2	21	11058322	RNA	SNP	C	TCGA-KS-A4IB-01A-11D-A257-08		11058322	37071573	17	9912											
CHEK2	11200	broad.mit.edu	37	chr22	29121246	29121246	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctaccctgaaaatccgaaaGtgtttcttgctgtatgttcg	8	10	1	1			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr22:29121246G>C	ENST00000405598.1	-	4	620	c.429C>G	c.(427-429)caC>caG	p.H143Q	CHEK2_ENST00000382580.2_Missense_Mutation_p.H186Q|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Missense_Mutation_p.H143Q|CHEK2_ENST00000382566.1_Missense_Mutation_p.H143Q|CHEK2_ENST00000382578.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.H143Q|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000328354.6_Missense_Mutation_p.H143Q|CHEK2_ENST00000404276.1_Missense_Mutation_p.H143Q|CHEK2_ENST00000403642.1_Intron			O96017	CHK2_HUMAN	checkpoint kinase 2	143	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						AAATCCGAAAGTGTTTCTTGC	0.373			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000382580.2			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			0				central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(556-558)caC>caG	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							185	173	177					22																	29121246		2203	4300	6503	SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29121246G>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"CHK2 (checkpoint, S.pombe) homolog", "CHK2 checkpoint homolog (S. pombe)"	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.429C>G	22.37:g.29121246G>C	ENSP00000386087:p.His143Gln					CHEK2_ENST00000348295.3_Missense_Mutation_p.H143Q|CHEK2_ENST00000382578.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.H143Q|CHEK2_ENST00000403642.1_Intron|CHEK2_ENST00000382566.1_Missense_Mutation_p.H143Q|CHEK2_ENST00000402731.1_Missense_Mutation_p.H143Q|CHEK2_ENST00000405598.1_Missense_Mutation_p.H143Q|CHEK2_ENST00000328354.6_Missense_Mutation_p.H143Q|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000544772.1_5'UTR	p.H186Q	NM_001005735.1	NP_001005735.1	O96017	CHK2_HUMAN			4	633	-			143					A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.558C>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.313103	0.60414	.	.	ENSG00000183765	ENST00000348295;ENST00000382566;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000402731;ENST00000447421;ENST00000439200;ENST00000398017	D;D;D;D;D;D;D;D;D;D	0.99186	-5.53;-5.53;-5.53;-5.53;-5.53;-5.53;-5.53;-5.53;-5.53;-5.53	5.87	3.76	0.43208	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	D	0.99278	0.9748	M	0.91818	3.245	0.58432	D	0.999995	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;0.997	D;D;D;D;D	0.97110	1.0;1.0;0.999;0.987;0.966	D	0.99521	1.0958	10	0.87932	D	0	-12.4286	9.4132	0.38505	0.2164:0.0:0.7836:0.0	.	143;143;143;143;186	O96017-7;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;CHK2_HUMAN;.	Q	143;143;143;143;143;186;143;143;174;153	ENSP00000329012:H143Q;ENSP00000372007:H143Q;ENSP00000329178:H143Q;ENSP00000385747:H143Q;ENSP00000386087:H143Q;ENSP00000372023:H186Q;ENSP00000384835:H143Q;ENSP00000397478:H143Q;ENSP00000408065:H174Q;ENSP00000381099:H153Q	ENSP00000329178:H143Q	H	-	3	2	CHEK2	27451246	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	2.113000	0.41902	0.808000	0.34231	0.585000	0.79938	CAC		0.373	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		39	5	0	0	0	1	0	39	5					C	29121246	G	C	29121246	3	2	485	1	0	0	0	0	1	0	0	0	3335	1020	36	4	1254	4	CHEK2	22	29121246	Missense_Mutation	SNP	G	TCGA-KS-A4IB-01A-11D-A257-08		29121246	22183320	18	9913											
ECHDC2	55268	broad.mit.edu	37	chr1	53387315	53387315	+	Frame_Shift_Del	DEL	A	A	-													gcgggcccgaaggggcctccAggggcgcaggaggcacagaa							TCGA-KS-A4IC-01A-11D-A257-08	TCGA-KS-A4IC-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b939830-9a29-462c-bd04-f0d28ca0c45e	25dd404d-6a59-4092-9341-0dab7893de8b	g.chr1:53387315delA	ENST00000371522.4	-	1	124	c.31delT	c.(31-33)tggfs	p.W11fs	ECHDC2_ENST00000480312.2_5'Flank|ECHDC2_ENST00000358358.5_Frame_Shift_Del_p.W11fs|ECHDC2_ENST00000541281.1_5'UTR|ECHDC2_ENST00000536120.1_5'UTR	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	11					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	lyase activity (GO:0016829)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						AGGGGCCTCCAGGGGCGCAGG	0.721																																						ENST00000371522.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						c.(31-33)ggfs		enoyl CoA hydratase domain containing 2							4	6	5					1																	53387315		2021	4126	6147	SO:0001589	frameshift_variant	55268				fatty acid metabolic process	mitochondrion	lyase activity	g.chr1:53387315delA	AF258590	CCDS571.1, CCDS55600.1, CCDS72794.1	1p32.3	2010-04-30	2010-04-30		ENSG00000121310	ENSG00000121310			23408	protein-coding gene	gene with protein product			"enoyl Coenzyme A hydratase domain containing 2"				Standard	NM_018281		Approved	FLJ10948	uc001cup.4	Q86YB7	OTTHUMG00000008927	ENST00000371522.4:c.31delT	1.37:g.53387315delA	ENSP00000360577:p.Trp11fs					ECHDC2_ENST00000358358.5_Frame_Shift_Del_p.W11fs|ECHDC2_ENST00000536120.1_5'UTR|ECHDC2_ENST00000541281.1_5'UTR	p.W11fs	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN			1	124	-			11					D3DQ36|Q9NV38	Frame_Shift_Del	DEL	ENST00000371522.4	37	c.31delT	CCDS55600.1																																																																																				0.721	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024712.3	NM_018281		2	4						2	4	---	---	---	---	-	53387315	A	-	53387315	7	5	486	1	0	1	0	1	0	0	0	0	4894	188	7	0	790	0	ECHDC2	1	53387315	Frame_Shift_Del	DEL	A	TCGA-KS-A4IC-01A-11D-A257-08		53387315	195863306	1	9914											
SLC1A7	6512	broad.mit.edu	37	chr1	53553738	53553738	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggttcagactcgcagcGggcagctcctcatcctgctc	11	15	2	1	rs140879455	byFrequency	TCGA-KS-A4IC-01A-11D-A257-08	TCGA-KS-A4IC-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b939830-9a29-462c-bd04-f0d28ca0c45e	25dd404d-6a59-4092-9341-0dab7893de8b	g.chr1:53553738G>A	ENST00000371494.4	-	11	1753	c.1626C>T	c.(1624-1626)ccC>ccT	p.P542P	RP11-334A14.5_ENST00000447867.1_RNA|SLC1A7_ENST00000488036.1_5'UTR	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	542					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)			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)		GACTCGCAGCGGGCAGCTCCT	0.657													G|||	3	0.000599042	0	0	5008	,	,		17962	0.002		0	False		,,,				2504	0.001				NSCLC(128;80 1811 21245 38490 51715)	ENST00000371494.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26						c.(1624-1626)ccC>ccT		solute carrier family 1 (glutamate transporter), member 7	L-Glutamic Acid(DB00142)	G		6,4400	11.4+/-27.6	0,6,2197	50	50	50		1626	-1.9	0.0	1	dbSNP_134	50	0,8600		0,0,4300	no	coding-synonymous	SLC1A7	NM_006671.4		0,6,6497	AA,AG,GG		0.0,0.1362,0.0461		542/561	53553738	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	6512					integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr1:53553738G>A	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.1626C>T	1.37:g.53553738G>A						SLC1A7_ENST00000488036.1_5'UTR	p.P542P	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN		Colorectal(1306;0.234)	11	1753	-			542					Q5VVZ0|Q969Z8|Q9BW45	Silent	SNP	ENST00000371494.4	37	c.1626C>T	CCDS574.1																																																																																				0.657	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024746.1	NM_006671		9	17	0	0	0	1	0	9	17					A	53553738	G	A	53553738	2	1	486	1	0	0	0	0	0	0	0	1	14437	1103	39	1		1	SLC1A7	1	53553738	Silent	SNP	G	TCGA-KS-A4IC-01A-11D-A257-08	166423	53553738	195696883	2	9915											
CCR6	1235	broad.mit.edu	37	chr6	167549983	167549983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtctatctcttgaacatgGccattgcagacatcctcttt	6	12	3	2	rs138813075		TCGA-KS-A4IC-01A-11D-A257-08	TCGA-KS-A4IC-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b939830-9a29-462c-bd04-f0d28ca0c45e	25dd404d-6a59-4092-9341-0dab7893de8b	g.chr6:167549983G>A	ENST00000341935.5	+	3	817	c.265G>A	c.(265-267)Gcc>Acc	p.A89T	CCR6_ENST00000400926.2_Missense_Mutation_p.A89T|CCR6_ENST00000349984.4_Missense_Mutation_p.A89T|RP11-517H2.6_ENST00000609590.1_RNA	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	89					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|humoral immune response (GO:0006959)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		CTTGAACATGGCCATTGCAGA	0.483																																						ENST00000341935.5																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14						c.(265-267)Gcc>Acc		chemokine (C-C motif) receptor 6		G	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	154	155	155		265,265	4.9	1.0	6	dbSNP_134	155	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	CCR6	NM_004367.5,NM_031409.3	58,58	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	probably-damaging,probably-damaging	89/375,89/375	167549983	4,13002	2203	4300	6503	SO:0001583	missense	1235				cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity	g.chr6:167549983G>A	U68030	CCDS5298.1	6q27	2012-08-08			ENSG00000112486	ENSG00000112486		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1607	protein-coding gene	gene with protein product		601835		STRL22		8886020	Standard	NM_031409		Approved	CKR-L3, GPR-CY4, CMKBR6, GPR29, DRY-6, DCR2, BN-1, CD196	uc010kkm.3	P51684	OTTHUMG00000016015	ENST00000341935.5:c.265G>A	6.37:g.167549983G>A	ENSP00000343952:p.Ala89Thr					CCR6_ENST00000400926.2_Missense_Mutation_p.A89T|CCR6_ENST00000349984.4_Missense_Mutation_p.A89T	p.A89T	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)	3	817	+		Breast(66;1.53e-05)|Ovarian(120;0.0606)	89					E1P5C6|P78553|Q92846	Missense_Mutation	SNP	ENST00000341935.5	37	c.265G>A	CCDS5298.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963168	0.74016	2.27E-4	3.49E-4	ENSG00000112486	ENST00000400926;ENST00000341935;ENST00000349984	T;T;T	0.56103	0.48;0.48;0.48	4.87	4.87	0.63330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000002	T	0.72285	0.3441	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78927	-0.2011	10	0.87932	D	0	.	17.0018	0.86383	0.0:0.0:1.0:0.0	.	89	P51684	CCR6_HUMAN	T	89	ENSP00000383715:A89T;ENSP00000343952:A89T;ENSP00000339393:A89T	ENSP00000343952:A89T	A	+	1	0	CCR6	167469973	1.000000	0.71417	0.996000	0.52242	0.204000	0.24138	7.025000	0.76449	2.230000	0.72887	0.561000	0.74099	GCC		0.483	CCR6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043118.1			6	91	0	0	0	1	0	6	91					A	167549983	G	A	167549983	3	1	486	1	0	0	0	0	1	0	0	0	2945	1203	42	2	271	2	CCR6	6	167549983	Missense_Mutation	SNP	G	TCGA-KS-A4IC-01A-11D-A257-08		167549983	3565084	3	9916											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-KS-A4IC-01A-11D-A257-08	TCGA-KS-A4IC-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b939830-9a29-462c-bd04-f0d28ca0c45e	25dd404d-6a59-4092-9341-0dab7893de8b	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		19	28	0	0	0	1	0	19	28					T	140453136	A	T	140453136	3	4	486	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-KS-A4IC-01A-11D-A257-08		140453136	18685527	4	9917											
MTNR1B	4544	broad.mit.edu	37	chr11	92702938	92702939	+	Frame_Shift_Del	DEL	GG	GG	-													ctgctgcgaggcgggcgggtGggcagtgcgcccgggctggt							TCGA-KS-A4IC-01A-11D-A257-08	TCGA-KS-A4IC-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b939830-9a29-462c-bd04-f0d28ca0c45e	25dd404d-6a59-4092-9341-0dab7893de8b	g.chr11:92702938_92702939delGG	ENST00000257068.2	+	1	53_54	c.47_48delGG	c.(46-48)tggfs	p.W16fs		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	16					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	GCGGGCGGGTGGGCAGTGCGCC	0.738																																						ENST00000257068.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33						c.(46-48)tfs		melatonin receptor 1B	Ramelteon(DB00980)																																			SO:0001589	frameshift_variant	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92702938_92702939delGG	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"GPCR / Class A : Melatonin receptors"	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.47_48delGG	11.37:g.92702938_92702939delGG	ENSP00000257068:p.Trp16fs						p.W16fs	NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN			1	53_54	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	16						Frame_Shift_Del	DEL	ENST00000257068.2	37	c.47_48delGG	CCDS8290.1																																																																																				0.738	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			2	4						2	4	---	---	---	---	-	92702939	GG	-	92702938	7	5	486	1	0	1	0	1	0	0	0	0	9952	1357	47	0	49	0	MTNR1B	11	92702938	Frame_Shift_Del	DEL	GG	TCGA-KS-A4IC-01A-11D-A257-08		92702938	42303578	5	9918											
C14orf182	283551	broad.mit.edu	37	chr14	50472373	50472373	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagacgaaatgtctgtgtcGtagaactgtgtgtgatcttg	13	5	2	3			TCGA-KS-A4IC-01A-11D-A257-08	TCGA-KS-A4IC-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b939830-9a29-462c-bd04-f0d28ca0c45e	25dd404d-6a59-4092-9341-0dab7893de8b	g.chr14:50472373G>A	ENST00000399206.1	-	1	1865	c.145C>T	c.(145-147)Cga>Tga	p.R49*	C14orf182_ENST00000529902.1_5'UTR	NM_001012706.1	NP_001012724.1	A1A4T8	CN182_HUMAN	chromosome 14 open reading frame 182	49								p.R49*(1)		large_intestine(2)|urinary_tract(1)	3						TGTCTGTGTCGTAGAACTGTG	0.527																																						ENST00000399206.1																			1	Substitution - Nonsense(1)	p.R49*(1)	large_intestine(1)	large_intestine(2)|urinary_tract(1)	3						c.(145-147)Cga>Tga		chromosome 14 open reading frame 182							226	246	239					14																	50472373		2051	4191	6242	SO:0001587	stop_gained	283551							g.chr14:50472373G>A	AK090420	CCDS41949.1	14q22.1	2009-02-24			ENSG00000214900	ENSG00000214900			27503	protein-coding gene	gene with protein product							Standard	NM_001012706		Approved		uc001wxi.1	A1A4T8		ENST00000399206.1:c.145C>T	14.37:g.50472373G>A	ENSP00000382157:p.Arg49*					C14orf182_ENST00000529902.1_5'UTR	p.R49*	NM_001012706.1	NP_001012724.1	A1A4T8	CN182_HUMAN			1	1865	-			49					A8MYX4	Nonsense_Mutation	SNP	ENST00000399206.1	37	c.145C>T	CCDS41949.1	.	.	.	.	.	.	.	.	.	.	G	48	14.477015	0.99797	.	.	ENSG00000214900	ENST00000399206	.	.	.	3.26	-5.12	0.02893	.	.	.	.	.	.	.	.	.	.	.	0.52501	A	0.999951	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.9637	0.05901	0.1373:0.1469:0.5123:0.2035	.	.	.	.	X	49	.	ENSP00000382157:R49X	R	-	1	2	C14orf182	49542123	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.673000	0.01951	-1.031000	0.03308	-0.234000	0.12200	CGA		0.527	C14orf182-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395717.1	NM_001012706		7	94	0	0	0	1	0	7	94					A	50472373	G	A	50472373	4	1	486	1	0	0	0	0	0	1	0	0	1765	1153	40	1	190	1	C14orf182	14	50472373	Nonsense_Mutation	SNP	G	TCGA-KS-A4IC-01A-11D-A257-08		50472373	56877167	6	9919											
ERI3	79033	broad.mit.edu	37	chr1	44804819	44804819	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accattgccgccatggatgcGccaaagccgtgggccgccag	13	15	0	0			TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr1:44804819G>A	ENST00000372257.2	-	3	568	c.387C>T	c.(385-387)ggC>ggT	p.G129G	ERI3_ENST00000495828.1_5'UTR|ERI3_ENST00000537474.1_Intron	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	129							exonuclease activity (GO:0004527)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCATGGATGCGCCAAAGCCGT	0.547																																						ENST00000372257.2																			0				endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(385-387)ggC>ggT		ERI1 exoribonuclease family member 3							131	140	137					1																	44804819		2203	4300	6503	SO:0001819	synonymous_variant	79033					intracellular	exonuclease activity|metal ion binding|nucleic acid binding	g.chr1:44804819G>A	AF007157	CCDS30696.1	1p34.1	2009-10-07	2009-10-07	2008-12-16	ENSG00000117419	ENSG00000117419		"Enhanced RNAi three prime mRNA exonucleases"	17276	protein-coding gene	gene with protein product	"enhanced RNAi three prime mRNA exonuclease homolog 3 (C.elegans)", "exoribonuclease 3"	609917	"prion protein interacting protein"	PRNPIP			Standard	XM_005271184		Approved	FLJ22943, PINT1	uc001clt.3	O43414	OTTHUMG00000007637	ENST00000372257.2:c.387C>T	1.37:g.44804819G>A						ERI3_ENST00000495828.1_5'UTR|ERI3_ENST00000537474.1_Intron	p.G129G	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN			3	568	-			129					B1AK98|Q5T2T7|Q5T2T9|Q5TG35|Q9BQA0|Q9UEB4	Silent	SNP	ENST00000372257.2	37	c.387C>T	CCDS30696.1																																																																																				0.547	ERI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020243.1	NM_024066		5	245	0	0	0	1	0	5	245					A	44804819	G	A	44804819	2	1	487	1	0	0	0	0	0	0	0	1	5229	1074	38	1		1	ERI3	1	44804819	Silent	SNP	G	TCGA-KS-A4ID-01A-11D-A257-08		44804819	204445802	1	9920											
ZAK	51776	broad.mit.edu	37	chr2	174086201	174086201	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgacttgtcagaaggtgaCgatgatgatgatgatgacgg	14	4	1	8	rs575630590	byFrequency	TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr2:174086201C>T	ENST00000375213.3	+	11	1065				MLTK_ENST00000539448.1_Silent_p.D437D|MLTK_ENST00000409176.2_Intron|MLTK_ENST00000338983.3_Silent_p.D437D|MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000431503.2_Silent_p.D336D	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN							activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										CAGAAGGtgacgatgatgatg	0.403																																						ENST00000338983.3																			0											c.(1309-1311)gaC>gaT									57	55	55					2																	174086201		2203	4300	6503	SO:0001627	intron_variant	0							g.chr2:174086201C>T																												ENST00000375213.3:c.987+4223C>T	2.37:g.174086201C>T						MLTK_ENST00000539448.1_Silent_p.D437D|MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Intron|MLTK_ENST00000431503.2_Silent_p.D336D|MLTK_ENST00000375213.3_Intron	p.D437D	NM_133646.2	NP_598407.1					12	1506	+								B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Silent	SNP	ENST00000375213.3	37	c.1311C>T	CCDS42777.1																																																																																				0.403	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1			5	38	0	0	0	1	0	5	38					T	174086201	C	T	174086201	1	4	487	0	1	0	0	0	0	0	0	0	17509	535	19	1		1	ZAK	2	174086201	Intron	SNP	C	TCGA-KS-A4ID-01A-11D-A257-08		174086201	69113172	2	9921											
NEK10	152110	broad.mit.edu	37	chr3	27343258	27343258	+	Frame_Shift_Del	DEL	A	A	-													ctgataaatgaagctgctggAttcggcctgcagcatttgca							TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr3:27343258delA	ENST00000429845.2	-	14	1459	c.1097delT	c.(1096-1098)atcfs	p.I366fs	NEK10_ENST00000341435.5_Frame_Shift_Del_p.I366fs			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	366					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AAGCTGCTGGATTCGGCCTGC	0.373																																						ENST00000429845.2																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1096-1098)acfs		NIMA-related kinase 10							37	33	34					3																	27343258		1563	3576	5139	SO:0001589	frameshift_variant	152110						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr3:27343258delA	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"NIMA (never in mitosis gene a)- related kinase 10"			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.1097delT	3.37:g.27343258delA	ENSP00000395849:p.Ile366fs					NEK10_ENST00000341435.5_Frame_Shift_Del_p.I366fs	p.I366fs			Q6ZWH5	NEK10_HUMAN			14	1459	-			366					A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Frame_Shift_Del	DEL	ENST00000429845.2	37	c.1097delT																																																																																					0.373	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534		2	4						2	4	---	---	---	---	-	27343258	A	-	27343258	7	5	487	1	0	1	0	1	0	0	0	0	10322	333	12	0	1089	0	NEK10	3	27343258	Frame_Shift_Del	DEL	A	TCGA-KS-A4ID-01A-11D-A257-08		27343258	170679172	3	9922											
GLRB	2743	broad.mit.edu	37	chr4	158065014	158065014	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggcaggtcggcttttaCatgatgggggtctacgcccc	15	10	1	1			TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr4:158065014C>T	ENST00000264428.4	+	8	1077	c.807C>T	c.(805-807)taC>taT	p.Y269Y	GLRB_ENST00000509282.1_Silent_p.Y269Y|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Silent_p.Y269Y	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	269					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	TCGGCTTTTACATGATGGGGG	0.537																																						ENST00000264428.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27						c.(805-807)taC>taT		glycine receptor, beta	Glycine(DB00145)						177	134	148					4																	158065014		2203	4300	6503	SO:0001819	synonymous_variant	2743				nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	g.chr4:158065014C>T	U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.807C>T	4.37:g.158065014C>T						GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Silent_p.Y269Y|GLRB_ENST00000509282.1_Silent_p.Y269Y	p.Y269Y	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	8	1077	+	all_hematologic(180;0.24)	Renal(120;0.0458)	269					A8K3K2|D3DP23|F5GWE1	Silent	SNP	ENST00000264428.4	37	c.807C>T	CCDS3796.1																																																																																				0.537	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366507.1	NM_000824		16	37	0	0	0	1	0	16	37					T	158065014	C	T	158065014	2	4	487	1	0	0	0	0	0	0	0	1	6458	489	17	2		2	GLRB	4	158065014	Silent	SNP	C	TCGA-KS-A4ID-01A-11D-A257-08		158065014	33089262	4	9923											
ZFR	51663	broad.mit.edu	37	chr5	32407029	32407029	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctgttgcagcagcagcagcAgctgctgctgctgcctgctt	13	13	0	0	rs139769264		TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr5:32407029A>T	ENST00000265069.8	-	6	984	c.882T>A	c.(880-882)gcT>gcA	p.A294A		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	294	Ala-rich.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A294A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		cagcagcagcagctgctgctg	0.483																																						ENST00000265069.8																			1	Substitution - coding silent(1)	p.A294A(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(880-882)gcT>gcA		zinc finger RNA binding protein		A		0,4406		0,0,2203	35	36	36		882	-7.9	1.0	5	dbSNP_134	36	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZFR	NM_016107.3		0,1,6502	TT,TA,AA		0.0116,0.0,0.0077		294/1075	32407029	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32407029A>T	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.882T>A	5.37:g.32407029A>T							p.A294A	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	6	984	-			294			Ala-rich.		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Silent	SNP	ENST00000265069.8	37	c.882T>A	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	A	11.68	1.711849	0.30322	0.0	1.16E-4	ENSG00000056097	ENST00000416900	.	.	.	5.89	-7.9	0.01169	.	.	.	.	.	T	0.27731	0.0682	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33292	-0.9874	5	0.08179	T	0.78	.	8.2119	0.31488	0.2876:0.1859:0.0:0.5266	.	.	.	.	S	175	.	ENSP00000393243:C175S	C	-	1	0	ZFR	32442786	0.089000	0.21612	0.989000	0.46669	0.998000	0.95712	-1.076000	0.03420	-0.596000	0.05821	0.454000	0.30748	TGC		0.483	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			3	43	0	0	0	1	0	3	43					T	32407029	A	T	32407029	2	4	487	1	0	0	0	0	0	0	0	1	17656	175	7	5		5	ZFR	5	32407029	Silent	SNP	A	TCGA-KS-A4ID-01A-11D-A257-08		32407029	148508231	5	9924											
SLIT3	6586	broad.mit.edu	37	chr5	168096871	168096871	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatgtggcactgcccatggTgacacttgaaggctgagcag	14	9	0	4			TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr5:168096871T>C	ENST00000519560.1	-	35	4672	c.4253A>G	c.(4252-4254)cAc>cGc	p.H1418R	SLIT3_ENST00000404867.3_Missense_Mutation_p.H1418R|CTC-558O2.2_ENST00000520041.1_RNA|SLIT3_ENST00000332966.8_Missense_Mutation_p.H1425R	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1418	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGCCCATGGTGACACTTGAA	0.577																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(4252-4254)cAc>cGc		slit homolog 3 (Drosophila)							142	104	117					5																	168096871		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168096871T>C	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.4253A>G	5.37:g.168096871T>C	ENSP00000430333:p.His1418Arg					SLIT3_ENST00000332966.8_Missense_Mutation_p.H1425R|SLIT3_ENST00000404867.3_Missense_Mutation_p.H1418R	p.H1418R	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		35	4672	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1418			EGF-like 9.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.4253A>G	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	T	8.582	0.882583	0.17467	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.74947	-0.85;-0.87;-0.89	5.13	2.64	0.31445	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.686177	0.15393	N	0.264727	T	0.57242	0.2040	L	0.29908	0.895	0.25462	N	0.987905	B	0.16802	0.019	B	0.23275	0.045	T	0.39860	-0.9593	10	0.18710	T	0.47	.	5.0357	0.14432	0.1305:0.2029:0.0:0.6666	.	1418	O75094	SLIT3_HUMAN	R	1418;1425;1418	ENSP00000430333:H1418R;ENSP00000332164:H1425R;ENSP00000384890:H1418R	ENSP00000332164:H1425R	H	-	2	0	SLIT3	168029449	0.917000	0.31117	0.989000	0.46669	0.996000	0.88848	0.429000	0.21412	0.247000	0.21414	0.459000	0.35465	CAC		0.577	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		10	33	0	0	0	1	0	10	33					C	168096871	T	C	168096871	3	2	487	1	0	0	0	0	1	0	0	0	14741	1696	59	3	326	3	SLIT3	5	168096871	Missense_Mutation	SNP	T	TCGA-KS-A4ID-01A-11D-A257-08	135689842	168096871	12818389	6	9925											
GTPBP4	23560	broad.mit.edu	37	chr10	1046705	1046705	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactgccctggcccacctccGtgctgcggtcctgtatgtga	11	16	0	1	rs150247999		TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr10:1046705G>T	ENST00000360803.4	+	7	825	c.743G>T	c.(742-744)cGt>cTt	p.R248L	GTPBP4_ENST00000545048.1_Missense_Mutation_p.R201L|GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000538293.1_Missense_Mutation_p.R132L	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	248	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		GCCCACCTCCGTGCTGCGGTC	0.557																																						ENST00000360803.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21						c.(742-744)cGt>cTt		GTP binding protein 4							180	151	161					10																	1046705		2203	4300	6503	SO:0001583	missense	23560				negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	g.chr10:1046705G>T	AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"G protein-binding protein CRFG", " GTP-binding protein"					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.743G>T	10.37:g.1046705G>T	ENSP00000354040:p.Arg248Leu					GTPBP4_ENST00000538293.1_Missense_Mutation_p.R132L|GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000545048.1_Missense_Mutation_p.R201L	p.R248L	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)	7	825	+		all_epithelial(10;0.107)|Colorectal(49;0.14)	248					B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Missense_Mutation	SNP	ENST00000360803.4	37	c.743G>T	CCDS31132.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928681	0.92389	.	.	ENSG00000107937	ENST00000360803;ENST00000538293;ENST00000545048	T;T;T	0.35789	2.44;1.29;2.44	6.07	6.07	0.98685	Nucleolar GTP-binding 1 (1);Small GTP-binding protein domain (1);	0.055619	0.85682	D	0.000000	T	0.75265	0.3826	H	0.97240	3.965	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.83505	0.0077	10	0.87932	D	0	-7.3434	18.8398	0.92177	0.0:0.0:1.0:0.0	.	248	Q9BZE4	NOG1_HUMAN	L	248;132;201	ENSP00000354040:R248L;ENSP00000444277:R132L;ENSP00000445473:R201L	ENSP00000354040:R248L	R	+	2	0	GTPBP4	1036705	1.000000	0.71417	0.900000	0.35374	0.553000	0.35397	9.428000	0.97476	2.885000	0.99019	0.655000	0.94253	CGT		0.557	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046412.1	NM_012341		10	70	1	0	7.48243e-07	1	9.47774e-07	10	70					T	1046705	G	T	1046705	3	4	487	1	0	0	0	0	1	0	0	0	6882	1145	40	4	769	4	GTPBP4	10	1046705	Missense_Mutation	SNP	G	TCGA-KS-A4ID-01A-11D-A257-08		1046705	134488042	7	9926											
OR5M3	219482	broad.mit.edu	37	chr11	56237418	56237418	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tacaaaggtcccagcacaggCcattttgatgagaggtggat	12	8	0	2	rs373931754		TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr11:56237418C>G	ENST00000312240.2	-	1	596	c.556G>C	c.(556-558)Gcc>Ccc	p.A186P		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					CCAGCACAGGCCATTTTGATG	0.398																																						ENST00000312240.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(556-558)Gcc>Ccc		olfactory receptor, family 5, subfamily M, member 3							131	120	124					11																	56237418		2201	4296	6497	SO:0001583	missense	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237418C>G	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"GPCR / Class A : Olfactory receptors"	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.556G>C	11.37:g.56237418C>G	ENSP00000312208:p.Ala186Pro						p.A186P	NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN			1	596	-	Esophageal squamous(21;0.00448)		186					B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	c.556G>C	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369079	0.61624	.	.	ENSG00000174937	ENST00000312240	T	0.00235	8.48	5.08	4.14	0.48551	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	D	0.000385	T	0.00784	0.0026	H	0.95224	3.64	0.29431	N	0.859862	D	0.89917	1.0	D	0.81914	0.995	T	0.03112	-1.1071	10	0.72032	D	0.01	-15.2428	10.6126	0.45432	0.3486:0.6514:0.0:0.0	.	186	Q8NGP4	OR5M3_HUMAN	P	186	ENSP00000312208:A186P	ENSP00000312208:A186P	A	-	1	0	OR5M3	55993994	0.001000	0.12720	0.996000	0.52242	0.877000	0.50540	0.016000	0.13377	1.094000	0.41399	0.549000	0.68633	GCC		0.398	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		13	172	0	0	0	1	0	13	172					G	56237418	C	G	56237418	3	3	487	1	0	0	0	0	1	0	0	0	11175	739	26	4	369	4	OR5M3	11	56237418	Missense_Mutation	SNP	C	TCGA-KS-A4ID-01A-11D-A257-08		56237418	78769098	8	9927											
KRTAP5-10	387273	broad.mit.edu	37	chr11	71276879	71276879	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttgtgggggctccaaaggGggctgtggttcctgtggggg	20	7	1	0	rs111331435		TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr11:71276879G>T	ENST00000398531.1	+	1	271	c.246G>T	c.(244-246)ggG>ggT	p.G82G	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	82	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GCTCCAAAGGGGGCTGTGGTT	0.682																																						ENST00000398531.1																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(244-246)ggG>ggT		keratin associated protein 5-10							50	70	64					11																	71276879		2140	4258	6398	SO:0001819	synonymous_variant	387273					keratin filament		g.chr11:71276879G>T	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"Keratin associated proteins"	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.246G>T	11.37:g.71276879G>T						KRTAP5-10_ENST00000376536.4_Intron	p.G82G	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN			1	271	+			82			7 X 4 AA repeats of C-C-X-P.		B9EHA4	Silent	SNP	ENST00000398531.1	37	c.246G>T	CCDS41684.1																																																																																				0.682	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			6	291	1	0	0.00307968	1	0.00344199	6	291					T	71276879	G	T	71276879	2	4	487	1	0	0	0	0	0	0	0	1	8559	1219	43	4		4	KRTAP5-10	11	71276879	Silent	SNP	G	TCGA-KS-A4ID-01A-11D-A257-08	15039461	71276879	63729637	9	9928											
RIMBP2	23504	broad.mit.edu	37	chr12	130921558	130921558	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcacagggccaggtgcacgGctctgctcccaggcctcatc	12	16	2	0			TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr12:130921558G>T	ENST00000261655.4	-	10	2047	c.1884C>A	c.(1882-1884)agC>agA	p.S628R	RIMBP2_ENST00000535703.1_Missense_Mutation_p.S536R|RIMBP2_ENST00000536002.1_Missense_Mutation_p.S536R	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	628	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CAGGTGCACGGCTCTGCTCCC	0.662																																						ENST00000261655.4																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(1882-1884)agC>agA		RIMS binding protein 2							62	55	57					12																	130921558		2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130921558G>T	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1884C>A	12.37:g.130921558G>T	ENSP00000261655:p.Ser628Arg					RIMBP2_ENST00000536002.1_Missense_Mutation_p.S536R|RIMBP2_ENST00000535703.1_Missense_Mutation_p.S536R	p.S628R	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	10	2047	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	628			Pro-rich.		Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.1884C>A	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	G	5.749	0.322648	0.10900	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.20598	2.06;2.91;2.91	4.63	0.0751	0.14398	.	0.775907	0.11802	N	0.528044	T	0.16385	0.0394	L	0.40543	1.245	0.33466	D	0.585628	B;P;B	0.39094	0.201;0.659;0.201	B;B;B	0.41135	0.063;0.348;0.029	T	0.33879	-0.9851	10	0.35671	T	0.21	-9.2062	5.1065	0.14787	0.376:0.2594:0.3645:0.0	.	536;536;628	C9JWN3;O15034-2;O15034	.;.;RIMB2_HUMAN	R	628;536;536;536	ENSP00000261655:S628R;ENSP00000440347:S536R;ENSP00000439159:S536R	ENSP00000261655:S628R	S	-	3	2	RIMBP2	129487511	1.000000	0.71417	0.661000	0.29709	0.040000	0.13550	1.318000	0.33643	0.398000	0.25338	0.561000	0.74099	AGC		0.662	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		13	22	1	0	4.3838e-07	1	5.74429e-07	13	22					T	130921558	G	T	130921558	3	4	487	1	0	0	0	0	1	0	0	0	13363	1194	42	4	1314	4	RIMBP2	12	130921558	Missense_Mutation	SNP	G	TCGA-KS-A4ID-01A-11D-A257-08		130921558	2930337	10	9929											
PCNX	22990	broad.mit.edu	37	chr14	71443799	71443799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccaagtcataaccaccacCaccatgttgatcagtctctg	6	14	3	1			TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr14:71443799C>T	ENST00000304743.2	+	6	1191	c.745C>T	c.(745-747)Cac>Tac	p.H249Y	PCNX_ENST00000439984.3_Missense_Mutation_p.H249Y|PCNX_ENST00000238570.5_Missense_Mutation_p.H249Y	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	249	Poly-His.					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)		TAACCACCACCACCATGTTGA	0.493																																						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.(745-747)Cac>Tac		pecanex homolog (Drosophila)							137	115	122					14																	71443799		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71443799C>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.745C>T	14.37:g.71443799C>T	ENSP00000304192:p.His249Tyr					PCNX_ENST00000439984.3_Missense_Mutation_p.H249Y|PCNX_ENST00000238570.5_Missense_Mutation_p.H249Y	p.H249Y	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)	6	1191	+			249			Poly-His.		B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.745C>T	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.107983	0.56291	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.41065	1.01;1.01;1.01	5.64	5.64	0.86602	.	0.205075	0.44097	D	0.000492	T	0.20170	0.0485	N	0.03608	-0.345	0.43091	D	0.994765	P;P;B	0.36048	0.534;0.534;0.112	B;B;B	0.34722	0.188;0.188;0.032	T	0.18085	-1.0348	10	0.02654	T	1	.	17.8699	0.88808	0.0:1.0:0.0:0.0	.	249;249;249	B2RTR6;Q96RV3;Q96RV3-2	.;PCX1_HUMAN;.	Y	249	ENSP00000304192:H249Y;ENSP00000238570:H249Y;ENSP00000396617:H249Y	ENSP00000238570:H249Y	H	+	1	0	PCNX	70513552	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.184000	0.77705	2.659000	0.90383	0.655000	0.94253	CAC		0.493	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		5	48	0	0	0	1	0	5	48					T	71443799	C	T	71443799	3	4	487	1	0	0	0	0	1	0	0	0	11591	594	21	2	767	2	PCNX	14	71443799	Missense_Mutation	SNP	C	TCGA-KS-A4ID-01A-11D-A257-08		71443799	35905741	11	9930											
HSP90AA1	3320	broad.mit.edu	37	chr14	102549601	102549601	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gccatgtttccgaagacgttCcacaaaggctgagttagcta	10	10	0	2			TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr14:102549601C>A	ENST00000216281.8	-	9	1730	c.1525G>T	c.(1525-1527)Gaa>Taa	p.E509*	HSP90AA1_ENST00000441629.2_Nonsense_Mutation_p.E330*|HSP90AA1_ENST00000334701.7_Nonsense_Mutation_p.E631*	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	509					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	CGAAGACGTTCCACAAAGGCT	0.413																																						ENST00000334701.7																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28						c.(1891-1893)Gaa>Taa		heat shock protein 90kDa alpha (cytosolic), class A member 1	Rifabutin(DB00615)						129	124	125					14																	102549601		2203	4300	6503	SO:0001587	stop_gained	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102549601C>A	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"Heat shock proteins / HSPC"	5253	protein-coding gene	gene with protein product		140571	"heat shock 90kD protein 1, alpha", "heat shock 90kDa protein 1, alpha"	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.1525G>T	14.37:g.102549601C>A	ENSP00000216281:p.Glu509*					HSP90AA1_ENST00000216281.8_Nonsense_Mutation_p.E509*|HSP90AA1_ENST00000441629.2_Nonsense_Mutation_p.E330*	p.E631*	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN			10	2172	-			509					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Nonsense_Mutation	SNP	ENST00000216281.8	37	c.1891G>T	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	c	37	6.332220	0.97480	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000441629	.	.	.	4.44	4.44	0.53790	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-29.1247	17.4478	0.87583	0.0:1.0:0.0:0.0	.	.	.	.	X	509;631;330	.	ENSP00000216281:E509X	E	-	1	0	HSP90AA1	101619354	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.565000	0.82337	2.192000	0.70111	0.655000	0.94253	GAA		0.413	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		32	113	1	0	9.80977e-26	1	1.38063e-25	32	113					A	102549601	C	A	102549601	4	1	487	1	0	0	0	0	0	1	0	0	7401	864	30	4	685	4	HSP90AA1	14	102549601	Nonsense_Mutation	SNP	C	TCGA-KS-A4ID-01A-11D-A257-08	31105802	102549601	4799939	12	9931											
TNFAIP2	7127	broad.mit.edu	37	chr14	103596143	103596143	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctcgggagcctcctgccCcccaggcagatccgactgct	13	17	0	1			TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr14:103596143C>T	ENST00000560869.1	+	4	1566	c.927C>T	c.(925-927)ccC>ccT	p.P309P	TNFAIP2_ENST00000451723.2_Intron|TNFAIP2_ENST00000333007.1_Silent_p.P309P|TNFAIP2_ENST00000538222.1_5'Flank			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	309					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|exocytosis (GO:0006887)	exocyst (GO:0000145)|extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			GCCTCCTGCCCCCCAGGCAGA	0.652																																						ENST00000560869.1																			0				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(925-927)ccC>ccT		tumor necrosis factor, alpha-induced protein 2							40	44	42					14																	103596143		2203	4300	6503	SO:0001819	synonymous_variant	7127				angiogenesis|cell differentiation	extracellular space		g.chr14:103596143C>T		CCDS9979.1	14q32	2011-01-31				ENSG00000185215			11895	protein-coding gene	gene with protein product	"exocyst complex component 3-like 3"	603300				1374453	Standard	NM_006291		Approved	B94, EXOC3L3	uc001ymm.1	Q03169		ENST00000560869.1:c.927C>T	14.37:g.103596143C>T						TNFAIP2_ENST00000333007.1_Silent_p.P309P|TNFAIP2_ENST00000451723.2_Intron	p.P309P			Q03169	TNAP2_HUMAN	Epithelial(46;0.191)		4	1566	+		Melanoma(154;0.155)	309					Q86VI0	Silent	SNP	ENST00000560869.1	37	c.927C>T	CCDS9979.1																																																																																				0.652	TNFAIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415674.1	NM_006291		18	33	0	0	0	1	0	18	33					T	103596143	C	T	103596143	2	4	487	1	0	0	0	0	0	0	0	1	16270	610	22	2		2	TNFAIP2	14	103596143	Silent	SNP	C	TCGA-KS-A4ID-01A-11D-A257-08	1046542	103596143	3753397	13	9932											
MARK3	4140	broad.mit.edu	37	chr14	103958164	103958164	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcaacacacagtatcagtaGtgcagccaccccagatcgaa	7	13	2	1			TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr14:103958164G>T	ENST00000429436.2	+	15	2147	c.1637G>T	c.(1636-1638)aGt>aTt	p.S546I	MARK3_ENST00000440884.3_Missense_Mutation_p.S467I|MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000416682.2_Missense_Mutation_p.S569I|MARK3_ENST00000553942.1_Missense_Mutation_p.S546I|MARK3_ENST00000303622.9_Missense_Mutation_p.S546I|MARK3_ENST00000335102.5_Missense_Mutation_p.S569I|MARK3_ENST00000216288.7_Missense_Mutation_p.S530I	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	546						plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			AGTATCAGTAGTGCAGCCACC	0.488																																						ENST00000429436.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1636-1638)aGt>aTt		MAP/microtubule affinity-regulating kinase 3							76	75	75					14																	103958164		2015	4181	6196	SO:0001583	missense	4140						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr14:103958164G>T	M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.1637G>T	14.37:g.103958164G>T	ENSP00000411397:p.Ser546Ile					MARK3_ENST00000553942.1_Missense_Mutation_p.S546I|MARK3_ENST00000440884.3_Missense_Mutation_p.S467I|MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000416682.2_Missense_Mutation_p.S569I|MARK3_ENST00000335102.5_Missense_Mutation_p.S569I|MARK3_ENST00000303622.9_Missense_Mutation_p.S546I|MARK3_ENST00000216288.7_Missense_Mutation_p.S530I	p.S546I	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	Epithelial(46;0.241)		15	2147	+		Melanoma(154;0.155)	546					O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Missense_Mutation	SNP	ENST00000429436.2	37	c.1637G>T	CCDS45165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.06|15.06	2.721137|2.721137	0.48728|0.48728	.|.	.|.	ENSG00000075413|ENSG00000075413	ENST00000335102;ENST00000411530;ENST00000440884;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942;ENST00000556744|ENST00000554627	T;T;T;T;T;T;T;T|.	0.35421|.	1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.037303|.	0.85682|.	D|.	0.000000|.	T|T	0.73071|0.73071	0.3540|0.3540	L|L	0.55213|0.55213	1.73|1.73	0.80722|0.80722	D|D	1|1	B;B;P;B;B;P;B;B|.	0.44877|.	0.033;0.386;0.812;0.018;0.01;0.845;0.018;0.018|.	B;B;P;B;B;B;B;B|.	0.45449|.	0.034;0.175;0.481;0.049;0.022;0.298;0.033;0.022|.	T|T	0.67233|0.67233	-0.5722|-0.5722	10|5	0.54805|.	T|.	0.06|.	.|.	20.5827|20.5827	0.99408|0.99408	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	553;133;569;530;546;467;546;546|.	P27448-7;A2SY06;P27448-2;P27448-6;P27448;Q86TT8;P27448-4;P27448-3|.	.;.;.;.;MARK3_HUMAN;.;.;.|.	I|L	569;247;467;569;546;546;530;546;133|298	ENSP00000335347:S569I;ENSP00000402104:S467I;ENSP00000408092:S569I;ENSP00000411397:S546I;ENSP00000303698:S546I;ENSP00000216288:S530I;ENSP00000450772:S546I;ENSP00000451623:S133I|.	ENSP00000216288:S546I|.	S|V	+|+	2|1	0|0	MARK3|MARK3	103027917|103027917	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.932000|0.932000	0.56968|0.56968	3.735000|3.735000	0.55044|0.55044	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	AGT|GTG		0.488	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415144.1	NM_001128918		22	58	1	0	4.54149e-19	1	6.16344e-19	22	58					T	103958164	G	T	103958164	3	4	487	1	0	0	0	0	1	0	0	0	9314	1029	36	4	1695	4	MARK3	14	103958164	Missense_Mutation	SNP	G	TCGA-KS-A4ID-01A-11D-A257-08	362021	103958164	3391376	14	9933											
AHNAK2	113146	broad.mit.edu	37	chr14	105418145	105418145	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaggtcagcggaaggggGctgaatgctgaggtcagtgg	18	8	2	2	rs375277628	byFrequency	TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr14:105418145G>A	ENST00000333244.5	-	7	3762	c.3643C>T	c.(3643-3645)Ccc>Tcc	p.P1215S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1215						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)			GCGGAAGGGGGCTGAATGCTG	0.647													.|||	6	0.00119808	0	0	5008	,	,		15037	0		0.001	False		,,,				2504	0.0051					ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(3643-3645)Ccc>Tcc		AHNAK nucleoprotein 2		G	SER/PRO	2,3852		0,2,1925	96	70	79		3643	1.6	0.0	14		79	3,7607		0,3,3802	no	missense	AHNAK2	NM_138420.2	74	0,5,5727	AA,AG,GG		0.0394,0.0519,0.0436	benign	1215/5796	105418145	5,11459	1927	3805	5732	SO:0001583	missense	113146					nucleus		g.chr14:105418145G>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.3643C>T	14.37:g.105418145G>A	ENSP00000353114:p.Pro1215Ser					AHNAK2_ENST00000557457.1_Intron	p.P1215S	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	3762	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1215					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.3643C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	9.389	1.074896	0.20227	5.19E-4	3.94E-4	ENSG00000185567	ENST00000333244	T	0.00840	5.63	4.55	1.58	0.23477	.	.	.	.	.	T	0.00695	0.0023	N	0.25201	0.72	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46512	-0.9186	9	0.08837	T	0.75	.	5.6981	0.17867	0.0766:0.3467:0.4538:0.1229	.	1215	Q8IVF2	AHNK2_HUMAN	S	1215	ENSP00000353114:P1215S	ENSP00000353114:P1215S	P	-	1	0	AHNAK2	104489190	.	.	0.009000	0.14445	0.004000	0.04260	.	.	0.383000	0.24910	-1.447000	0.01057	CCC		0.647	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		3	3	0	0	0	1	0	3	3					A	105418145	G	A	105418145	3	1	487	1	0	0	0	0	1	0	0	0	415	1203	42	2	13748	2	AHNAK2	14	105418145	Missense_Mutation	SNP	G	TCGA-KS-A4ID-01A-11D-A257-08	1459981	105418145	1931395	15	9934											
GP2	2813	broad.mit.edu	37	chr16	20327340	20327340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatggccggtacttcactgCggacttgacttcttgagcaa	11	11	2	2			TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr16:20327340C>T	ENST00000381362.4	-	10	1524	c.1448G>A	c.(1447-1449)cGc>cAc	p.R483H	GP2_ENST00000302555.5_Missense_Mutation_p.R480H|GP2_ENST00000381360.5_Missense_Mutation_p.R336H|GP2_ENST00000573897.1_5'Flank|GP2_ENST00000341642.5_Missense_Mutation_p.R333H	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	483	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TACTTCACTGCGGACTTGACT	0.488																																						ENST00000302555.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1438-1440)cGc>cAc		glycoprotein 2 (zymogen granule membrane)							115	107	110					16																	20327340		2203	4300	6503	SO:0001583	missense	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20327340C>T	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.1448G>A	16.37:g.20327340C>T	ENSP00000370767:p.Arg483His					GP2_ENST00000381360.5_Missense_Mutation_p.R336H|GP2_ENST00000381362.4_Missense_Mutation_p.R483H|GP2_ENST00000341642.5_Missense_Mutation_p.R333H	p.R480H			P55259	GP2_HUMAN			9	1588	-			483			ZP.		A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	c.1439G>A	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.267858	0.80469	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	D;D;D;D	0.93604	-3.24;-3.25;-2.04;-2.08	5.25	2.2	0.27929	Zona pellucida sperm-binding protein (1);	.	.	.	.	D	0.93350	0.7880	M	0.72894	2.215	0.09310	N	1	P;D;D;B	0.63046	0.851;0.982;0.992;0.39	B;P;P;B	0.53861	0.349;0.585;0.736;0.082	D	0.85476	0.1176	9	0.56958	D	0.05	-5.5102	4.2793	0.10824	0.1816:0.6299:0.0:0.1885	.	333;461;480;483	P55259-4;B7Z1G2;P55259-3;P55259	.;.;.;GP2_HUMAN	H	480;483;336;333;461	ENSP00000304044:R480H;ENSP00000370767:R483H;ENSP00000370765:R336H;ENSP00000343861:R333H	ENSP00000304044:R480H	R	-	2	0	GP2	20234841	0.002000	0.14202	0.009000	0.14445	0.958000	0.62258	0.434000	0.21494	0.576000	0.29452	0.655000	0.94253	CGC		0.488	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		4	72	0	0	0	1	0	4	72					T	20327340	C	T	20327340	3	4	487	1	0	0	0	0	1	0	0	0	6582	768	27	1	177	1	GP2	16	20327340	Missense_Mutation	SNP	C	TCGA-KS-A4ID-01A-11D-A257-08		20327340	70027413	16	9935											
PRDM7	11105	broad.mit.edu	37	chr16	90126908	90126908	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agttcctggccatactcatcCccagaccagaccagcagttc	7	16	1	2			TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr16:90126908C>G	ENST00000449207.2	-	9	1093	c.1074G>C	c.(1072-1074)ggG>ggC	p.G358G	PRDM7_ENST00000325921.6_Intron|PRDM7_ENST00000407825.1_Intron	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	358	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CATACTCATCCCCAGACCAGA	0.532																																						ENST00000449207.2																			0				lung(2)|ovary(2)|stomach(1)	5						c.(1072-1074)ggG>ggC		PR domain containing 7							99	97	98					16																	90126908		1945	4145	6090	SO:0001819	synonymous_variant	11105					chromosome|nucleus	nucleic acid binding	g.chr16:90126908C>G	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"Zinc fingers, C2H2-type", "-"	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.1074G>C	16.37:g.90126908C>G						PRDM7_ENST00000325921.6_Intron|PRDM7_ENST00000407825.1_Intron	p.G358G	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	9	1093	-		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	358			SET.		A4Q9G8|Q08EM4|Q9NQW4	Silent	SNP	ENST00000449207.2	37	c.1074G>C	CCDS45557.1																																																																																				0.532	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420560.1			15	61	0	0	0	1	0	15	61					G	90126908	C	G	90126908	2	3	487	1	0	0	0	0	0	0	0	1	12461	610	22	4		4	PRDM7	16	90126908	Silent	SNP	C	TCGA-KS-A4ID-01A-11D-A257-08	69799568	90126908	227845	17	9936											
MMD	23531	broad.mit.edu	37	chr17	53471782	53471782	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagctgccgtggccacaaaCaggtgccagatggcgtgggc	16	12	0	1			TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr17:53471782C>A	ENST00000262065.3	-	7	926	c.630G>T	c.(628-630)ctG>ctT	p.L210L		NM_012329.2	NP_036461.2	Q15546	PAQRB_HUMAN	monocyte to macrophage differentiation-associated	210					cytolysis (GO:0019835)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						TGGCCACAAACAGGTGCCAGA	0.478																																						ENST00000262065.3																			0				breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(628-630)ctG>ctT		monocyte to macrophage differentiation-associated							113	105	108					17																	53471782		2203	4300	6503	SO:0001819	synonymous_variant	23531				cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity	g.chr17:53471782C>A	X85750	CCDS11586.1	17q	2008-05-02				ENSG00000108960			7153	protein-coding gene	gene with protein product		604467				7503749, 16044242	Standard	NM_012329		Approved	MMA, PAQR11	uc002iui.3	Q15546		ENST00000262065.3:c.630G>T	17.37:g.53471782C>A							p.L210L	NM_012329.2	NP_036461.2	Q15546	PAQRB_HUMAN			7	926	-			210					B2R6X9|D3DTY6|Q8TAN7	Silent	SNP	ENST00000262065.3	37	c.630G>T	CCDS11586.1																																																																																				0.478	MMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439214.1			4	148	1	0	1	1	1	4	148					A	53471782	C	A	53471782	2	1	487	1	0	0	0	0	0	0	0	1	9643	465	17	4		4	MMD	17	53471782	Silent	SNP	C	TCGA-KS-A4ID-01A-11D-A257-08		53471782	27723428	18	9937											
BPTF	2186	broad.mit.edu	37	chr17	65888050	65888050	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggctcaactcgaatcatcaCcagattgcggaatccagata	8	11	3	2			TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr17:65888050C>A	ENST00000321892.4	+	7	2394	c.2333C>A	c.(2332-2334)aCc>aAc	p.T778N	BPTF_ENST00000306378.6_Missense_Mutation_p.T652N|BPTF_ENST00000335221.5_Missense_Mutation_p.T778N|BPTF_ENST00000424123.3_Missense_Mutation_p.T639N			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	778					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CGAATCATCACCAGATTGCGG	0.473																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(2332-2334)aCc>aAc		bromodomain PHD finger transcription factor							67	63	64					17																	65888050		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65888050C>A	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.2333C>A	17.37:g.65888050C>A	ENSP00000315454:p.Thr778Asn					BPTF_ENST00000424123.3_Missense_Mutation_p.T639N|BPTF_ENST00000335221.5_Missense_Mutation_p.T778N|BPTF_ENST00000306378.6_Missense_Mutation_p.T652N	p.T778N			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		7	2394	+	all_cancers(12;6e-11)		778					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.2333C>A		.	.	.	.	.	.	.	.	.	.	C	21.0	4.078742	0.76528	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;T;T;D	0.85556	-0.7;-0.75;-0.69;-2.0	5.25	5.25	0.73442	.	.	.	.	.	D	0.89178	0.6641	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	0.993;0.995;1.0	P;D;D	0.83275	0.782;0.948;0.996	D	0.90256	0.4297	9	0.72032	D	0.01	-7.5225	19.2038	0.93722	0.0:1.0:0.0:0.0	.	778;652;778	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	N	683;652;778;778;576	ENSP00000307208:T652N;ENSP00000334351:T778N;ENSP00000315454:T778N;ENSP00000440854:T576N	ENSP00000307208:T652N	T	+	2	0	BPTF	63318512	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	7.664000	0.83830	2.585000	0.87301	0.655000	0.94253	ACC		0.473	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		5	39	1	0	0.014758	1	0.0151569	5	39					A	65888050	C	A	65888050	3	1	487	1	0	0	0	0	1	0	0	0	1495	507	18	4	2359	4	BPTF	17	65888050	Missense_Mutation	SNP	C	TCGA-KS-A4ID-01A-11D-A257-08	12416268	65888050	15307160	19	9938											
MAMLD1	10046	broad.mit.edu	37	chrX	149639635	149639635	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cactgccaccttgcagctgcAgcagcagcagcagcaacagc	10	16	0	0			TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chrX:149639635A>T	ENST00000370401.2	+	4	2100	c.1790A>T	c.(1789-1791)cAg>cTg	p.Q597L	MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	597	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TTgcagctgcagcagcagcag	0.607																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1789-1791)cAg>cTg		mastermind-like domain containing 1							67	59	62					X																	149639635		2203	4300	6503	SO:0001583	missense	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639635A>T	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1790A>T	X.37:g.149639635A>T	ENSP00000359428:p.Gln597Leu					MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L	p.Q597L			Q13495	MAMD1_HUMAN			4	2100	+	Acute lymphoblastic leukemia(192;6.56e-05)		597			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	c.1790A>T	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	A	11.70	1.717048	0.30413	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613;ENST00000455522	T;T;T;T;T	0.68181	0.18;-0.31;0.18;0.17;0.83	3.95	-2.22	0.06952	.	0.914301	0.09376	N	0.810639	T	0.65565	0.2703	L	0.44542	1.39	0.26213	N	0.979273	P;P;P;P	0.51351	0.835;0.835;0.944;0.835	P;P;P;P	0.49999	0.529;0.529;0.628;0.529	T	0.63198	-0.6691	10	0.66056	D	0.02	-0.2357	12.9577	0.58441	0.4497:0.5503:0.0:0.0	.	469;572;572;597	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	L	469;597;572;597;572;78	ENSP00000359428:Q597L;ENSP00000414517:Q572L;ENSP00000262858:Q597L;ENSP00000397438:Q572L;ENSP00000389106:Q78L	ENSP00000262858:Q597L	Q	+	2	0	MAMLD1	149390293	0.130000	0.22417	0.006000	0.13384	0.394000	0.30568	0.878000	0.28126	-0.614000	0.05687	-0.496000	0.04628	CAG		0.607	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		4	159	0	0	0	1	0	4	159					T	149639635	A	T	149639635	3	4	487	1	0	0	0	0	1	0	0	0	9208	188	7	5	1800	5	MAMLD1	23	149639635	Missense_Mutation	SNP	A	TCGA-KS-A4ID-01A-11D-A257-08		149639635	5630925	20	9939											
TRIB2	28951	broad.mit.edu	37	chr2	12863616	12863616	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcggcagtggcccactgccaTgacggggggctggtgctgcg	18	12	0	1	rs114874345	byFrequency	TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr2:12863616T>C	ENST00000405331.3	+	2	571	c.501T>C	c.(499-501)caT>caC	p.H167H	TRIB2_ENST00000155926.4_Silent_p.H167H|TRIB2_ENST00000381465.2_Silent_p.H31H					tribbles pseudokinase 2											breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCCACTGCCATGACGGGGGGC	0.577													T|||	19	0.00379393	0.0121	0	5008	,	,		17814	0		0.001	False		,,,				2504	0.002					ENST00000155926.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19						c.(499-501)caT>caC		tribbles pseudokinase 2		T		40,4366	40.8+/-73.8	1,38,2164	53	57	56		501	-0.6	1.0	2	dbSNP_132	56	0,8600		0,0,4300	no	coding-synonymous	TRIB2	NM_021643.3		1,38,6464	CC,CT,TT		0.0,0.9079,0.3076		167/344	12863616	40,12966	2203	4300	6503	SO:0001819	synonymous_variant	28951				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr2:12863616T>C	AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"tribbles homolog 2 (Drosophila)"			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000405331.3:c.501T>C	2.37:g.12863616T>C						TRIB2_ENST00000405331.3_Silent_p.H167H|TRIB2_ENST00000381465.2_Silent_p.H31H	p.H167H	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN			2	1920	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		167			Protein kinase.			Silent	SNP	ENST00000405331.3	37	c.501T>C																																																																																					0.577	TRIB2-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000323585.1	NM_021643		4	58	0	0	0	1	0	4	58					C	12863616	T	C	12863616	2	2	488	1	0	0	0	0	0	0	0	1	16480	1461	51	3		3	TRIB2	2	12863616	Silent	SNP	T	TCGA-L6-A4EP-01A-11D-A257-08		12863616	230335757	1	9940											
NT5C1B	93034	broad.mit.edu	37	chr2	18765449	18765449	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaccctcttgctcgtagaTtttcctgccgtccaccatgt	7	15	1	2	rs370362544		TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr2:18765449T>C	ENST00000359846.2	-	6	1053	c.976A>G	c.(976-978)Atc>Gtc	p.I326V	NT5C1B_ENST00000600945.1_Missense_Mutation_p.I326V|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.I326V|NT5C1B_ENST00000304081.4_Missense_Mutation_p.I266V|NT5C1B_ENST00000460052.1_5'Flank|RNU6-1215P_ENST00000384441.1_RNA	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	326					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TGCTCGTAGATTTTCCTGCCG	0.552																																						ENST00000304081.4																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29						c.(796-798)Atc>Gtc		5'-nucleotidase, cytosolic IB		T	VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	167	160	163		796,976,802,982,1027,925,976	0.5	1.0	2		163	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense	NT5C1B,NT5C1B-RDH14	NM_033253.3,NM_001199104.1,NM_001199103.1,NM_001199088.1,NM_001199087.1,NM_001199086.1,NM_001002006.2	29,29,29,29,29,29,29	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign,benign,benign,benign,benign,benign,benign	266/551,326/603,268/651,328/613,343/628,309/594,326/611	18765449	1,13005	2203	4300	6503	SO:0001583	missense	93034							g.chr2:18765449T>C	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.976A>G	2.37:g.18765449T>C	ENSP00000352904:p.Ile326Val					NT5C1B_ENST00000359846.2_Missense_Mutation_p.I326V|NT5C1B_ENST00000600945.1_Missense_Mutation_p.I326V|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.I326V	p.I266V	NM_033253.3	NP_150278.2					5	896	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)						B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	37	c.796A>G	CCDS33150.1	.	.	.	.	.	.	.	.	.	.	T	11.07	1.531356	0.27387	2.27E-4	0.0	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846	D	0.90732	-2.72	5.58	0.472	0.16758	.	0.241175	0.47852	N	0.000203	T	0.82153	0.4975	L	0.33137	0.985	0.44055	D	0.996791	B;B;B;B;B;B;B;B;B	0.13594	0.001;0.001;0.003;0.001;0.001;0.002;0.002;0.001;0.008	B;B;B;B;B;B;B;B;B	0.18263	0.007;0.007;0.008;0.008;0.004;0.015;0.019;0.007;0.021	T	0.67173	-0.5737	10	0.17369	T	0.5	-18.2419	9.7588	0.40519	0.0:0.2599:0.0:0.7401	.	309;343;266;309;268;118;266;326;326	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-3;Q96P26-2;Q96P26;Q96P26-4	.;.;.;.;.;.;.;5NT1B_HUMAN;.	V	326;268;266;326	ENSP00000412639:I268V	ENSP00000305979:I266V	I	-	1	0	NT5C1B-RDH14;NT5C1B	18628930	1.000000	0.71417	0.987000	0.45799	0.951000	0.60555	1.930000	0.40124	-0.078000	0.12730	-1.167000	0.01749	ATC		0.552	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			5	111	0	0	0	1	0	5	111					C	18765449	T	C	18765449	3	2	488	1	0	0	0	0	1	0	0	0	10686	1493	52	3	876	3	NT5C1B	2	18765449	Missense_Mutation	SNP	T	TCGA-L6-A4EP-01A-11D-A257-08	5901833	18765449	224433924	2	9941											
ANKRD53	79998	broad.mit.edu	37	chr2	71206350	71206350	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccagcaaggagtccgaccaGacggcaatcgaccagacggc	12	15	0	2			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr2:71206350G>A	ENST00000360589.3	+	2	328	c.294G>A	c.(292-294)caG>caA	p.Q98Q	ANKRD53_ENST00000272421.6_Silent_p.Q98Q|ANKRD53_ENST00000441349.1_Silent_p.Q64Q|ANKRD53_ENST00000457410.1_Silent_p.Q64Q|AC007040.11_ENST00000606025.1_Intron	NM_001115116.1	NP_001108588.1	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	98										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						AGTCCGACCAGACGGCAATCG	0.682																																						ENST00000272421.6																			0				endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						c.(292-294)caG>caA		ankyrin repeat domain 53							59	60	59					2																	71206350		2202	4298	6500	SO:0001819	synonymous_variant	79998							g.chr2:71206350G>A	BC035234	CCDS1913.1, CCDS46321.1	2p13.3	2013-01-10			ENSG00000144031	ENSG00000144031		"Ankyrin repeat domain containing"	25691	protein-coding gene	gene with protein product							Standard	NM_024933		Approved	FLJ12056, FLJ36160	uc002shl.4	Q8N9V6	OTTHUMG00000129712	ENST00000360589.3:c.294G>A	2.37:g.71206350G>A						ANKRD53_ENST00000441349.1_Silent_p.Q64Q|ANKRD53_ENST00000457410.1_Silent_p.Q64Q|AC007040.11_ENST00000606025.1_Intron|ANKRD53_ENST00000360589.3_Silent_p.Q98Q	p.Q98Q	NM_024933.3	NP_079209.3	Q8N9V6	ANR53_HUMAN			2	560	+			98					Q8IYP8	Silent	SNP	ENST00000360589.3	37	c.294G>A	CCDS46321.1																																																																																				0.682	ANKRD53-004	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330275.2	NM_024933		9	66	0	0	0	1	0	9	66					A	71206350	G	A	71206350	2	1	488	1	0	0	0	0	0	0	0	1	679	933	33	2		2	ANKRD53	2	71206350	Silent	SNP	G	TCGA-L6-A4EP-01A-11D-A257-08	52440901	71206350	171993023	3	9942											
SF3B1	23451	broad.mit.edu	37	chr2	198265531	198265531	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctcccaaattacccaTaattttctcaattgtctcca	3	13	2	0			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr2:198265531T>A	ENST00000335508.6	-	18	2717	c.2626A>T	c.(2626-2628)Atg>Ttg	p.M876L	SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	876					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AAATTACCCATAATTTTCTCA	0.368			Mis		myelodysplastic syndrome																																	ENST00000335508.5				Dom	yes		2	2q33.1	23451	Mis	"splicing factor 3b, subunit 1, 155kDa"			L			myelodysplastic syndrome		0				NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(2626-2628)Atg>Ttg		splicing factor 3b, subunit 1, 155kDa							154	151	152					2																	198265531		2202	4299	6501	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198265531T>A	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"splicing factor 3b, subunit 1, 155kD"			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2626A>T	2.37:g.198265531T>A	ENSP00000335321:p.Met876Leu						p.M876L	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		18	2717	-			876					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.2626A>T	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	16.41	3.114269	0.56505	.	.	ENSG00000115524	ENST00000335508	T	0.61627	0.09	5.61	5.61	0.85477	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.34803	0.0910	N	0.02379	-0.575	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19484	-1.0304	10	0.44086	T	0.13	.	16.0963	0.81127	0.0:0.0:0.0:1.0	.	876	O75533	SF3B1_HUMAN	L	876	ENSP00000335321:M876L	ENSP00000335321:M876L	M	-	1	0	SF3B1	197973776	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.936000	0.87665	2.261000	0.74972	0.533000	0.62120	ATG		0.368	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			17	32	0	0	0	1	0	17	32					A	198265531	T	A	198265531	3	1	488	1	0	0	0	0	1	0	0	0	14149	1406	49	5	1320	5	SF3B1	2	198265531	Missense_Mutation	SNP	T	TCGA-L6-A4EP-01A-11D-A257-08	127059181	198265531	44933842	4	9943											
NDUFS1	4719	broad.mit.edu	37	chr2	207011657	207011657	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggccgggcagtaaaggcaTagggcttagaggttagggca	17	6	0	1			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr2:207011657T>C	ENST00000233190.6	-	8	973	c.707A>G	c.(706-708)tAt>tGt	p.Y236C	NDUFS1_ENST00000440274.1_Missense_Mutation_p.Y200C|NDUFS1_ENST00000455934.2_Missense_Mutation_p.Y250C|NDUFS1_ENST00000432169.1_Missense_Mutation_p.Y125C|NDUFS1_ENST00000423725.1_Missense_Mutation_p.Y179C|NDUFS1_ENST00000449699.1_Missense_Mutation_p.Y236C|NDUFS1_ENST00000457011.1_Missense_Mutation_p.Y120C	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	236					apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGTAAAGGCATAGGGCTTAGA	0.363																																						ENST00000233190.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(706-708)tAt>tGt		NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						122	107	112					2																	207011657		2203	4300	6503	SO:0001583	missense	4719				apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr2:207011657T>C		CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7707	protein-coding gene	gene with protein product	"complex I 75kDa subunit", "NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"	157655	"NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.707A>G	2.37:g.207011657T>C	ENSP00000233190:p.Tyr236Cys					NDUFS1_ENST00000440274.1_Missense_Mutation_p.Y200C|NDUFS1_ENST00000432169.1_Missense_Mutation_p.Y125C|NDUFS1_ENST00000423725.1_Missense_Mutation_p.Y179C|NDUFS1_ENST00000455934.2_Missense_Mutation_p.Y250C|NDUFS1_ENST00000449699.1_Missense_Mutation_p.Y236C|NDUFS1_ENST00000457011.1_Missense_Mutation_p.Y120C	p.Y236C	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN			8	973	-			236					B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Missense_Mutation	SNP	ENST00000233190.6	37	c.707A>G	CCDS2366.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.469212	0.84533	.	.	ENSG00000023228	ENST00000233190;ENST00000423725;ENST00000457011;ENST00000440274;ENST00000455934;ENST00000449699;ENST00000432169	D;D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.95281	0.8469	H	0.97732	4.065	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.994;0.986;0.968;0.968	D	0.96939	0.9686	10	0.87932	D	0	-23.7092	16.1063	0.81225	0.0:0.0:0.0:1.0	.	125;200;250;236	B4DPG1;E7ENF3;B4DJA0;P28331	.;.;.;NDUS1_HUMAN	C	236;179;120;200;250;236;125	ENSP00000233190:Y236C;ENSP00000397760:Y179C;ENSP00000400976:Y120C;ENSP00000409766:Y200C;ENSP00000392709:Y250C;ENSP00000399912:Y236C;ENSP00000409689:Y125C	ENSP00000233190:Y236C	Y	-	2	0	NDUFS1	206719902	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.040000	0.89188	2.197000	0.70478	0.533000	0.62120	TAT		0.363	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006		8	63	0	0	0	1	0	8	63					C	207011657	T	C	207011657	3	2	488	1	0	0	0	0	1	0	0	0	10291	1406	49	3	1524	3	NDUFS1	2	207011657	Missense_Mutation	SNP	T	TCGA-L6-A4EP-01A-11D-A257-08	8746126	207011657	36187716	5	9944											
NKIRAS1	28512	broad.mit.edu	37	chr3	23942418	23942418	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcaaatgaaaaataatgctTtggcagctccacgccttcct	7	11	0	1			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr3:23942418T>C	ENST00000443659.2	-	3	994	c.217A>G	c.(217-219)Aag>Gag	p.K73E	NKIRAS1_ENST00000412028.1_Missense_Mutation_p.K73E|NKIRAS1_ENST00000437230.1_Missense_Mutation_p.K73E|NKIRAS1_ENST00000415901.2_Missense_Mutation_p.K73E|NKIRAS1_ENST00000388759.3_Missense_Mutation_p.K73E|NKIRAS1_ENST00000416026.2_Missense_Mutation_p.K73E|NKIRAS1_ENST00000421515.2_Missense_Mutation_p.K73E|NKIRAS1_ENST00000425478.2_Missense_Mutation_p.K73E			Q9NYS0	KBRS1_HUMAN	NFKB inhibitor interacting Ras-like 1	73	Interactions with NFKBIA and NFKBIB.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						AAATAATGCTTTGGCAGCTCC	0.408																																						ENST00000443659.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						c.(217-219)Aag>Gag		NFKB inhibitor interacting Ras-like 1							158	153	155					3																	23942418		2203	4300	6503	SO:0001583	missense	28512				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity	g.chr3:23942418T>C	AF229839	CCDS33717.1	3p24.1	2014-05-09	2004-05-20		ENSG00000197885	ENSG00000197885			17899	protein-coding gene	gene with protein product		604496	"NFKB inhibitor interacting Ras-like protein 1"			10657303	Standard	NM_020345		Approved	KBRAS1, kappaB-Ras1	uc003ccj.3	Q9NYS0	OTTHUMG00000155605	ENST00000443659.2:c.217A>G	3.37:g.23942418T>C	ENSP00000393785:p.Lys73Glu					NKIRAS1_ENST00000425478.2_Missense_Mutation_p.K73E|NKIRAS1_ENST00000416026.2_Missense_Mutation_p.K73E|NKIRAS1_ENST00000421515.2_Missense_Mutation_p.K73E|NKIRAS1_ENST00000437230.1_Missense_Mutation_p.K73E|NKIRAS1_ENST00000412028.1_Missense_Mutation_p.K73E|NKIRAS1_ENST00000415901.2_Missense_Mutation_p.K73E|NKIRAS1_ENST00000388759.3_Missense_Mutation_p.K73E	p.K73E			Q9NYS0	KBRS1_HUMAN			3	994	-			73			Interactions with NFKBIA and NFKBIB.		Q96K18	Missense_Mutation	SNP	ENST00000443659.2	37	c.217A>G	CCDS33717.1	.	.	.	.	.	.	.	.	.	.	T	18.93	3.728543	0.69074	.	.	ENSG00000197885	ENST00000388759;ENST00000443659;ENST00000421515;ENST00000425478;ENST00000437230;ENST00000412028;ENST00000415901;ENST00000416026	T;T;T;T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01	5.56	5.56	0.83823	Small GTP-binding protein domain (1);	0.095673	0.64402	D	0.000001	T	0.69242	0.3089	L	0.37630	1.12	0.54753	D	0.99998	P;B	0.39903	0.694;0.368	B;B	0.37387	0.248;0.201	T	0.68481	-0.5397	10	0.28530	T	0.3	-19.7204	15.3773	0.74621	0.0:0.0:0.0:1.0	.	73;73	G5E9P3;Q9NYS0	.;KBRS1_HUMAN	E	73	ENSP00000373411:K73E;ENSP00000393785:K73E;ENSP00000392307:K73E;ENSP00000400385:K73E;ENSP00000406543:K73E;ENSP00000396063:K73E;ENSP00000415225:K73E;ENSP00000394214:K73E	ENSP00000373411:K73E	K	-	1	0	NKIRAS1	23917422	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.946000	0.63576	2.116000	0.64780	0.402000	0.26972	AAG		0.408	NKIRAS1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340876.2	NM_020345		6	76	0	0	0	1	0	6	76					C	23942418	T	C	23942418	3	2	488	1	0	0	0	0	1	0	0	0	10444	1850	64	3	369	3	NKIRAS1	3	23942418	Missense_Mutation	SNP	T	TCGA-L6-A4EP-01A-11D-A257-08		23942418	174080012	6	9945											
ATG12	9140	broad.mit.edu	37	chr5	115177236	115177236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagctgcaacacagactgcGgctcctccgccatcttgctt	9	15	1	1			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr5:115177236G>A	ENST00000509910.1	-	1	319	c.14C>T	c.(13-15)cCg>cTg	p.P5L	AP3S1_ENST00000316788.7_5'UTR|ATG12_ENST00000500945.2_Missense_Mutation_p.P5L|ATG12_ENST00000274459.4_Missense_Mutation_p.P52L|ATG12_ENST00000509598.1_5'Flank			O94817	ATG12_HUMAN	autophagy related 12	5					autophagic vacuole assembly (GO:0000045)|C-terminal protein lipidation (GO:0006501)|cellular response to nitrogen starvation (GO:0006995)|innate immune response (GO:0045087)|mitochondrion degradation (GO:0000422)|negative regulation of type I interferon production (GO:0032480)|nucleophagy (GO:0044804)	Atg12-Atg5-Atg16 complex (GO:0034274)|pre-autophagosomal structure membrane (GO:0034045)	Atg8 ligase activity (GO:0019776)	p.P52L(1)		endometrium(2)|kidney(1)|lung(1)|prostate(1)	5		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)		CACAGACTGCGGCTCCTCCGC	0.607																																						ENST00000509910.1																			1	Substitution - Missense(1)	p.P52L(1)	prostate(1)	endometrium(2)|kidney(1)|lung(1)|prostate(1)	5						c.(13-15)cCg>cTg		autophagy related 12							76	85	82					5																	115177236		2202	4300	6502	SO:0001583	missense	9140				autophagic vacuole assembly|negative regulation of type I interferon production	pre-autophagosomal structure membrane	protein binding	g.chr5:115177236G>A	AB017507	CCDS4122.1, CCDS4122.2, CCDS64222.1	5q21-q22	2014-02-12	2012-06-06	2005-09-11	ENSG00000145782	ENSG00000145782			588	protein-coding gene	gene with protein product	"APG12 autophagy 12-like"	609608	"Apg12 (autophagy 12, S. cerevisiae)-like", "APG12 autophagy 12-like (S. cerevisiae)", "ATG12 autophagy related 12 homolog (S. cerevisiae)"	APG12L		9852036	Standard	NM_004707		Approved	APG12	uc003krh.3	O94817	OTTHUMG00000128889	ENST00000509910.1:c.14C>T	5.37:g.115177236G>A	ENSP00000425107:p.Pro5Leu					ATG12_ENST00000274459.4_Missense_Mutation_p.P52L|ATG12_ENST00000500945.2_Missense_Mutation_p.P5L|AP3S1_ENST00000316788.7_5'UTR	p.P5L			O94817	ATG12_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)	1	319	-		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)	5					Q6PJV2	Missense_Mutation	SNP	ENST00000509910.1	37	c.14C>T	CCDS4122.2	.	.	.	.	.	.	.	.	.	.	G	16.39	3.109715	0.56398	.	.	ENSG00000145782	ENST00000274459;ENST00000509910;ENST00000500945	.	.	.	4.87	2.96	0.34315	.	0.956568	0.08681	N	0.909454	T	0.33644	0.0870	L	0.51422	1.61	0.23661	N	0.99718	D;P	0.58268	0.982;0.553	B;B	0.41723	0.365;0.054	T	0.22138	-1.0225	9	0.87932	D	0	-2.7118	8.8274	0.35063	0.0:0.1546:0.6621:0.1832	.	5;52	O94817;C1IDX9	ATG12_HUMAN;.	L	52;5;5	.	ENSP00000274459:P52L	P	-	2	0	ATG12	115205135	0.000000	0.05858	0.002000	0.10522	0.028000	0.11728	0.361000	0.20267	1.006000	0.39211	-0.274000	0.10170	CCG		0.607	ATG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250851.3	NM_004707		9	101	0	0	0	1	0	9	101					A	115177236	G	A	115177236	3	1	488	1	0	0	0	0	1	0	0	0	1090	1116	39	1	424	1	ATG12	5	115177236	Missense_Mutation	SNP	G	TCGA-L6-A4EP-01A-11D-A257-08		115177236	65738024	7	9946											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		20	29	0	0	0	1	0	20	29					T	140453136	A	T	140453136	3	4	488	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-L6-A4EP-01A-11D-A257-08		140453136	18685527	8	9947											
MLL3	58508	broad.mit.edu	37	chr7	151970884	151970884	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagcacaaggataatgAtacatctgggtacatttctc	8	10	2	1			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr7:151970884A>C	ENST00000262189.6	-	7	1136	c.918T>G	c.(916-918)taT>taG	p.Y306*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Y306*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	306					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AAGGATAATGATACATCTGGG	0.438																																						ENST00000355193.2																			0											c.(916-918)taT>taG		lysine (K)-specific methyltransferase 2C							180	169	172					7																	151970884		2203	4300	6503	SO:0001587	stop_gained	58508							g.chr7:151970884A>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.918T>G	7.37:g.151970884A>C	ENSP00000262189:p.Tyr306*					KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Y306*	p.Y306*							7	1136	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.918T>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	A	39	7.689834	0.98434	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	4.87	3.98	0.46160	.	0.000000	0.40640	N	0.001041	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6852	0.56944	0.0822:0.0:0.9178:0.0	.	.	.	.	X	306	.	ENSP00000262189:Y306X	Y	-	3	2	MLL3	151601817	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.394000	0.66285	1.163000	0.42636	-0.248000	0.11899	TAT		0.438	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			8	143	0	0	0	1	0	8	143					C	151970884	A	C	151970884	4	2	488	1	0	0	0	0	0	1	0	0	9622	340	12	5	14029	5	MLL3	7	151970884	Nonsense_Mutation	SNP	A	TCGA-L6-A4EP-01A-11D-A257-08	11517748	151970884	7167779	9	9948											
SDC2	6383	broad.mit.edu	37	chr8	97621772	97621772	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctactaaggagttttatgCgtaaaactccaacttagtgt	7	8	0	0			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr8:97621772C>T	ENST00000302190.4	+	5	1523	c.602C>T	c.(601-603)gCg>gTg	p.A201V	SDC2_ENST00000519914.1_Missense_Mutation_p.A172V|SDC2_ENST00000518385.1_Missense_Mutation_p.A165V|SDC2_ENST00000522911.1_Missense_Mutation_p.A172V	NM_002998.3	NP_002989.2	P34741	SDC2_HUMAN	syndecan 2	201					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dendrite morphogenesis (GO:0048813)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|regulation of dendrite morphogenesis (GO:0048814)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)			breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2)	16	Breast(36;3.41e-05)				Sargramostim(DB00020)	GAGTTTTATGCGTAAAACTCC	0.363																																						ENST00000302190.4																			0				breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2)	16						c.(601-603)gCg>gTg		syndecan 2	Sargramostim(DB00020)						83	75	77					8																	97621772		2203	4300	6503	SO:0001583	missense	6383					integral to plasma membrane	cytoskeletal protein binding|PDZ domain binding	g.chr8:97621772C>T	BC030133	CCDS6272.1	8q22-q23	2011-08-11	2007-02-15		ENSG00000169439	ENSG00000169439		"Proteoglycans / Cell Surface : Syndecans", "CD molecules"	10659	protein-coding gene	gene with protein product	"syndecan proteoglycan 2"	142460	"heparan sulfate proteoglycan 1, cell surface-associated"	HSPG, HSPG1		8187643	Standard	NM_002998		Approved	fibroglycan, SYND2, CD362	uc003yhv.1	P34741	OTTHUMG00000164689	ENST00000302190.4:c.602C>T	8.37:g.97621772C>T	ENSP00000307046:p.Ala201Val					SDC2_ENST00000519914.1_Missense_Mutation_p.A172V|SDC2_ENST00000522911.1_Missense_Mutation_p.A172V|SDC2_ENST00000518385.1_Missense_Mutation_p.A165V	p.A201V	NM_002998.3	NP_002989.2	P34741	SDC2_HUMAN			5	1523	+	Breast(36;3.41e-05)		201					B3KQA3|Q6PIS6|Q9H6V1	Missense_Mutation	SNP	ENST00000302190.4	37	c.602C>T	CCDS6272.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126365	0.77549	.	.	ENSG00000169439	ENST00000302190;ENST00000518385;ENST00000545117;ENST00000546193;ENST00000522911;ENST00000519914	T;T;T;T	0.68181	-0.31;0.02;-0.1;-0.1	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.83496	0.5267	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.83857	0.0266	10	0.87932	D	0	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	201	P34741	SDC2_HUMAN	V	201;165;201;191;172;172	ENSP00000307046:A201V;ENSP00000429045:A165V;ENSP00000427784:A172V;ENSP00000428256:A172V	ENSP00000307046:A201V	A	+	2	0	SDC2	97690948	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	7.794000	0.85869	2.882000	0.98803	0.655000	0.94253	GCG		0.363	SDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379750.1	NM_002998		3	33	0	0	0	1	0	3	33					T	97621772	C	T	97621772	3	4	488	1	0	0	0	0	1	0	0	0	13952	768	27	1	620	1	SDC2	8	97621772	Missense_Mutation	SNP	C	TCGA-L6-A4EP-01A-11D-A257-08		97621772	48742250	10	9949											
OR2AT4	341152	broad.mit.edu	37	chr11	74800178	74800178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggggggtggtgtcagagCaggaggcctggaccacagcc	18	10	2	1			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr11:74800178C>T	ENST00000305159.3	-	1	621	c.581G>A	c.(580-582)tGc>tAc	p.C194Y		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						GGTGTCAGAGCAGGAGGCCTG	0.567																																						ENST00000305159.3																			0				endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						c.(580-582)tGc>tAc		olfactory receptor, family 2, subfamily AT, member 4							60	53	56					11																	74800178		2200	4293	6493	SO:0001583	missense	341152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:74800178C>T	BK004820	CCDS31639.1	11q13.4	2012-08-09			ENSG00000171561	ENSG00000171561		"GPCR / Class A : Olfactory receptors"	19620	protein-coding gene	gene with protein product							Standard	NM_001005285		Approved		uc010rro.2	A6NND4	OTTHUMG00000165370	ENST00000305159.3:c.581G>A	11.37:g.74800178C>T	ENSP00000304846:p.Cys194Tyr						p.C194Y	NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN			1	621	-			194					B9EGZ8	Missense_Mutation	SNP	ENST00000305159.3	37	c.581G>A	CCDS31639.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629862	0.67015	.	.	ENSG00000171561	ENST00000305159	T	0.46451	0.87	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34828	U	0.003651	T	0.71719	0.3373	M	0.91090	3.175	0.48830	D	0.999712	D	0.76494	0.999	D	0.75020	0.985	T	0.78760	-0.2078	10	0.87932	D	0	.	16.7481	0.85478	0.0:1.0:0.0:0.0	.	194	A6NND4	O2AT4_HUMAN	Y	194	ENSP00000304846:C194Y	ENSP00000304846:C194Y	C	-	2	0	OR2AT4	74477826	0.995000	0.38212	1.000000	0.80357	0.965000	0.64279	3.301000	0.51842	2.617000	0.88574	0.650000	0.86243	TGC		0.567	OR2AT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383734.1	NM_001005285		8	52	0	0	0	1	0	8	52					T	74800178	C	T	74800178	3	4	488	1	0	0	0	0	1	0	0	0	10987	710	25	2	384	2	OR2AT4	11	74800178	Missense_Mutation	SNP	C	TCGA-L6-A4EP-01A-11D-A257-08		74800178	60206338	11	9950											
KIAA0748	9840	broad.mit.edu	37	chr12	55356225	55356225	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acccacttacctcctccaagTcaaaagtgtcctgtggctgc	7	15	1	0			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr12:55356225T>C	ENST00000449076.1	-	9	1589	c.1457A>G	c.(1456-1458)gAc>gGc	p.D486G	TESPA1_ENST00000524622.1_Missense_Mutation_p.D348G|TESPA1_ENST00000531122.1_Missense_Mutation_p.D348G|TESPA1_ENST00000532804.1_Missense_Mutation_p.D348G|TESPA1_ENST00000524959.1_5'Flank|TESPA1_ENST00000316577.8_Missense_Mutation_p.D486G	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	486					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											CTCCTCCAAGTCAAAAGTGTC	0.512																																						ENST00000524622.1																			0											c.(1042-1044)gAc>gGc		thymocyte expressed, positive selection associated 1							159	160	160					12																	55356225		1931	4145	6076	SO:0001583	missense	9840							g.chr12:55356225T>C	AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"KIAA0748"	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.1457A>G	12.37:g.55356225T>C	ENSP00000400892:p.Asp486Gly					TESPA1_ENST00000449076.1_Missense_Mutation_p.D486G|TESPA1_ENST00000316577.8_Missense_Mutation_p.D486G|TESPA1_ENST00000531122.1_Missense_Mutation_p.D348G|TESPA1_ENST00000532804.1_Missense_Mutation_p.D348G	p.D348G	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN			7	1704	-			486					B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	ENST00000449076.1	37	c.1043A>G	CCDS44913.1	.	.	.	.	.	.	.	.	.	.	T	6.533	0.466637	0.12402	.	.	ENSG00000135426	ENST00000524622;ENST00000528240;ENST00000532804;ENST00000449076;ENST00000316577;ENST00000531122	T;T;T;T;T	0.59083	0.29;0.29;0.36;0.36;0.29	4.7	4.7	0.59300	.	0.141093	0.32785	N	0.005643	T	0.48840	0.1522	L	0.27053	0.805	0.09310	N	1	P	0.36048	0.534	B	0.42343	0.384	T	0.50355	-0.8838	10	0.59425	D	0.04	-10.3778	10.8387	0.46702	0.0:0.0:0.0:1.0	.	486	A2RU30	K0748_HUMAN	G	348;86;348;486;486;348	ENSP00000435622:D348G;ENSP00000432030:D348G;ENSP00000400892:D486G;ENSP00000312679:D486G;ENSP00000433098:D348G	ENSP00000312679:D486G	D	-	2	0	KIAA0748	53642492	0.021000	0.18746	0.024000	0.17045	0.037000	0.13140	0.902000	0.28459	2.330000	0.79161	0.533000	0.62120	GAC		0.512	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1	NM_001098815		7	97	0	0	0	1	0	7	97					C	55356225	T	C	55356225	3	2	488	1	0	0	0	0	1	0	0	0	8190	1667	58	3	116	3	KIAA0748	12	55356225	Missense_Mutation	SNP	T	TCGA-L6-A4EP-01A-11D-A257-08		55356225	78495670	12	9951											
YLPM1	56252	broad.mit.edu	37	chr14	75265980	75265980	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcacagtttcgtgaacgggAtattccatctcttccacctt	6	12	2	1			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr14:75265980A>G	ENST00000325680.7	+	5	4104	c.3980A>G	c.(3979-3981)gAt>gGt	p.D1327G	YLPM1_ENST00000238571.3_Missense_Mutation_p.D1132G|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1132					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CGTGAACGGGATATTCCATCT	0.448																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(3979-3981)gAt>gGt		YLP motif containing 1							141	141	141					14																	75265980		1919	4126	6045	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75265980A>G	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 169"		"chromosome 14 open reading frame 170"	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.3980A>G	14.37:g.75265980A>G	ENSP00000324463:p.Asp1327Gly					YLPM1_ENST00000238571.3_Missense_Mutation_p.D1132G|YLPM1_ENST00000552421.1_Intron	p.D1327G	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	5	4104	+			1132					P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000325680.7	37	c.3980A>G	CCDS45135.1	.	.	.	.	.	.	.	.	.	.	A	17.02	3.281637	0.59758	.	.	ENSG00000119596	ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.97	5.97	0.96955	.	0.080378	0.53938	D	0.000058	T	0.63943	0.2554	L	0.44542	1.39	0.47123	D	0.99932	D	0.59767	0.986	P	0.53912	0.737	T	0.66540	-0.5898	9	0.66056	D	0.02	-10.6323	16.5103	0.84282	1.0:0.0:0.0:0.0	.	1327	P49750-4	.	G	1327;1132;1040	.	ENSP00000238571:D1132G	D	+	2	0	YLPM1	74335733	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.774000	0.75012	2.303000	0.77524	0.439000	0.28862	GAT		0.448	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1	NM_019589		5	70	0	0	0	1	0	5	70					G	75265980	A	G	75265980	3	3	488	1	0	0	0	0	1	0	0	0	17483	333	12	3	3998	3	YLPM1	14	75265980	Missense_Mutation	SNP	A	TCGA-L6-A4EP-01A-11D-A257-08		75265980	32083560	13	9952											
OSGIN1	29948	broad.mit.edu	37	chr16	83998897	83998897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccttctcgctgtgggcccGcaacgtggtcctcgccacag	12	17	1	0			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr16:83998897G>A	ENST00000343939.2	+	7	1351	c.968G>A	c.(967-969)cGc>cAc	p.R323H	OSGIN1_ENST00000393306.1_Missense_Mutation_p.R240H|OSGIN1_ENST00000361711.3_Missense_Mutation_p.R240H			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	323					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)		growth factor activity (GO:0008083)			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						CTGTGGGCCCGCAACGTGGTC	0.697																																						ENST00000343939.2																			0				autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(967-969)cGc>cAc		oxidative stress induced growth inhibitor 1							30	35	33					16																	83998897		2197	4299	6496	SO:0001583	missense	29948				cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity	g.chr16:83998897G>A	AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961			30093	protein-coding gene	gene with protein product	"bone marrow stromal cell-derived growth inhibitor", "pregnancy induced growth inhibitor"	607975				11459809, 14570898	Standard	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.968G>A	16.37:g.83998897G>A	ENSP00000343376:p.Arg323His					OSGIN1_ENST00000393306.1_Missense_Mutation_p.R240H|OSGIN1_ENST00000361711.3_Missense_Mutation_p.R240H	p.R323H			Q9UJX0	OSGI1_HUMAN			7	1351	+			323					Q52M33|Q86UQ1|Q96S88|Q9BZ70	Missense_Mutation	SNP	ENST00000343939.2	37	c.968G>A		.	.	.	.	.	.	.	.	.	.	G	12.63	1.995384	0.35226	.	.	ENSG00000140961	ENST00000343939;ENST00000361711;ENST00000393306	T;T;T	0.46819	0.86;0.86;0.86	4.8	-1.12	0.09808	.	0.490267	0.22366	N	0.061010	T	0.30479	0.0766	L	0.31476	0.935	0.80722	D	1	B	0.13145	0.007	B	0.06405	0.002	T	0.04635	-1.0937	10	0.40728	T	0.16	-6.2507	9.3331	0.38034	0.6673:0.0:0.3327:0.0	.	323	Q9UJX0	OSGI1_HUMAN	H	323;240;240	ENSP00000343376:R323H;ENSP00000355374:R240H;ENSP00000376983:R240H	ENSP00000343376:R323H	R	+	2	0	OSGIN1	82556398	0.102000	0.21896	0.990000	0.47175	0.967000	0.64934	0.858000	0.27845	-0.213000	0.10094	0.467000	0.42956	CGC		0.697	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	NM_013370		4	55	0	0	0	1	0	4	55					A	83998897	G	A	83998897	3	1	488	1	0	0	0	0	1	0	0	0	11289	1087	38	1	994	1	OSGIN1	16	83998897	Missense_Mutation	SNP	G	TCGA-L6-A4EP-01A-11D-A257-08		83998897	6355856	14	9953											
GFAP	2670	broad.mit.edu	37	chr17	42987560	42987560	+	Intron	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtgagcctgtattggtataaCtcgtattgtgaggcttttga	12	5	0	3			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr17:42987560C>G	ENST00000253408.5	-	7	1237				GFAP_ENST00000435360.2_Missense_Mutation_p.V414L|GFAP_ENST00000588735.1_Intron	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein						astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				ATTGGTATAACTCGTATTGTG	0.493																																						ENST00000435360.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						c.(1240-1242)Gtt>Ctt		glial fibrillary acidic protein							325	276	291					17																	42987560		1568	3582	5150	SO:0001627	intron_variant	2670					cytoplasm|intermediate filament	structural constituent of cytoskeleton	g.chr17:42987560C>G	S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"Intermediate filaments type III"	4235	protein-coding gene	gene with protein product	"intermediate filament protein"	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.1171+422G>C	17.37:g.42987560C>G						GFAP_ENST00000588735.1_Intron|GFAP_ENST00000253408.5_Intron	p.V414L	NM_001131019.2|NM_001242376.1	NP_001124491.1|NP_001229305.1	P14136	GFAP_HUMAN			8	1247	-		Prostate(33;0.0959)	412			Tail.		B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Missense_Mutation	SNP	ENST00000253408.5	37	c.1240G>C	CCDS11491.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.973818	0.53720	.	.	ENSG00000131095	ENST00000435360	D	0.83992	-1.79	4.78	3.81	0.43845	.	.	.	.	.	T	0.69278	0.3093	N	0.14661	0.345	0.80722	D	1	B	0.21452	0.056	B	0.22152	0.038	T	0.68176	-0.5478	9	0.87932	D	0	.	9.0041	0.36100	0.0:0.902:0.0:0.098	.	414	E9PAX3	.	L	414	ENSP00000403962:V414L	ENSP00000403962:V414L	V	-	1	0	GFAP	40343086	0.999000	0.42202	0.999000	0.59377	0.990000	0.78478	1.683000	0.37638	1.612000	0.50221	0.650000	0.86243	GTT		0.493	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	NM_002055		36	55	0	0	0	1	0	36	55					G	42987560	C	G	42987560	1	3	488	0	1	0	0	0	0	0	0	0	6337	565	20	4		4	GFAP	17	42987560	Intron	SNP	C	TCGA-L6-A4EP-01A-11D-A257-08		42987560	38207650	15	9954											
PRPF6	57473	broad.mit.edu	37	chr20	62631011	62631011	+	Intron	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcgggagacgaaccctcatCacccgccagcctggattgca	10	15	2	1			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr20:62631011C>T	ENST00000450537.1	-	2	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Missense_Mutation_p.H308Y			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						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)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GAACCCTCATCACCCGCCAGC	0.567																																						ENST00000535781.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(922-924)Cac>Tac		pre-mRNA processing factor 6							95	81	86					20																	62631011		2203	4300	6503	SO:0001627	intron_variant	24148				assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity	g.chr20:62631011C>T	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.5-31703G>A	20.37:g.62631011C>T						ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron	p.H308Y			O94906	PRP6_HUMAN			8	1033	+	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)		308					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.922C>T	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834857	0.91036	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.33654	1.4;1.4	5.54	5.54	0.83059	Tetratricopeptide-like helical (1);	0.043393	0.85682	D	0.000000	T	0.65460	0.2693	M	0.93638	3.44	0.80722	D	1	P;P	0.47545	0.526;0.897	B;P	0.53185	0.248;0.72	T	0.73672	-0.3909	10	0.52906	T	0.07	.	19.5492	0.95311	0.0:1.0:0.0:0.0	.	308;308	O94906-2;O94906	.;PRP6_HUMAN	Y	308	ENSP00000266079:H308Y;ENSP00000446216:H308Y	ENSP00000266079:H308Y	H	+	1	0	PRPF6	62101455	1.000000	0.71417	0.997000	0.53966	0.910000	0.53928	7.258000	0.78371	2.621000	0.88768	0.650000	0.86243	CAC		0.567	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		7	75	0	0	0	1	0	7	75					T	62631011	C	T	62631011	1	4	488	0	1	0	0	0	0	0	0	0	12574	826	29	2		2	PRPF6	20	62631011	Intron	SNP	C	TCGA-L6-A4EP-01A-11D-A257-08		62631011	394509	16	9955											
NUDT10	170685	broad.mit.edu	37	chrX	51076024	51076024	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccgagaggtgtacgaagaGgcgggagtcaaggggaagtt	19	5	1	2	rs143435240		TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	234					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657																																					NSCLC(90;1817 2035 37909 38249)	ENST00000376006.3																			8	Substitution - coding silent(8)	p.E69E(8)	endometrium(5)|cervix(1)|prostate(1)|lung(1)	cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(205-207)gaG>gaA		nudix (nucleoside diphosphate linked moiety X)-type motif 10							52	62	59					X																	51076024		2203	4300	6503	SO:0001819	synonymous_variant	170685					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51076024G>A	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"Nudix motif containing"	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.207G>A	X.37:g.51076024G>A						NUDT10_ENST00000356450.2_Silent_p.E69E	p.E69E	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN			2	427	+	Ovarian(276;0.236)		69			Nudix hydrolase.		Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	c.207G>A	CCDS35278.1																																																																																				0.657	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		4	58	0	0	0	1	0	4	58					A	51076024	G	A	51076024	2	1	488	1	0	0	0	0	0	0	0	1	10726	991	35	2		2	NUDT10	23	51076024	Silent	SNP	G	TCGA-L6-A4EP-01A-11D-A257-08		51076024	104194536	17	9956											
HUWE1	10075	broad.mit.edu	37	chrX	53654447	53654447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcacaaacggacattcttttCggcacaaatctacttcatgc	5	12	4	0			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chrX:53654447C>T	ENST00000342160.3	-	16	1860	c.1403G>A	c.(1402-1404)cGa>cAa	p.R468Q	HUWE1_ENST00000218328.8_Missense_Mutation_p.R468Q|HUWE1_ENST00000262854.6_Missense_Mutation_p.R468Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	468					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ACATTCTTTTCGGCACAAATC	0.308																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(1402-1404)cGa>cAa		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							171	144	153					X																	53654447		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53654447C>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.1403G>A	X.37:g.53654447C>T	ENSP00000340648:p.Arg468Gln					HUWE1_ENST00000262854.6_Missense_Mutation_p.R468Q|HUWE1_ENST00000218328.8_Missense_Mutation_p.R468Q	p.R468Q			Q7Z6Z7	HUWE1_HUMAN			16	1860	-			468					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.1403G>A	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	c	28.9	4.956474	0.92726	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328;ENST00000396323	T;T;T	0.73363	0.97;0.97;-0.74	4.89	4.89	0.63831	E3 ubiquitin ligase, domain of unknown function DUF913 (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.389433	0.22273	N	0.062240	D	0.85270	0.5658	M	0.74881	2.28	0.49687	D	0.999812	D	0.76494	0.999	D	0.68192	0.956	D	0.87234	0.2262	10	0.72032	D	0.01	.	15.999	0.80275	0.0:1.0:0.0:0.0	.	468	Q7Z6Z7	HUWE1_HUMAN	Q	468;468;468;94	ENSP00000340648:R468Q;ENSP00000262854:R468Q;ENSP00000218328:R468Q	ENSP00000218328:R468Q	R	-	2	0	HUWE1	53671172	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	7.096000	0.76960	2.025000	0.59659	0.534000	0.68092	CGA		0.308	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		27	47	0	0	0	1	0	27	47					T	53654447	C	T	53654447	3	4	488	1	0	0	0	0	1	0	0	0	7461	884	31	1	11993	1	HUWE1	23	53654447	Missense_Mutation	SNP	C	TCGA-L6-A4EP-01A-11D-A257-08	2578423	53654447	101616113	18	9957											
FGR	2268	broad.mit.edu	37	chr1	27943448	27943448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccgcccatgtccagtttgCggatcttgtaatgcttcaca	9	12	2	0	rs376766171		TCGA-L6-A4EQ-01A-11D-A257-08	TCGA-L6-A4EQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	247b1c50-5882-4714-b26e-8059705de3f2	bef85d8f-bfee-493e-a438-2465d603b02a	g.chr1:27943448C>T	ENST00000374005.3	-	7	890	c.602G>A	c.(601-603)cGc>cAc	p.R201H	FGR_ENST00000399173.1_Missense_Mutation_p.R201H|FGR_ENST00000545953.1_Missense_Mutation_p.R135H|FGR_ENST00000374004.1_Missense_Mutation_p.R201H	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	FGR proto-oncogene, Src family tyrosine kinase	201	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|defense response to Gram-positive bacterium (GO:0050830)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of innate immune response (GO:0045088)|regulation of phagocytosis (GO:0050764)|regulation of protein kinase activity (GO:0045859)|response to virus (GO:0009615)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|Fc-gamma receptor I complex binding (GO:0034988)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphotyrosine binding (GO:0001784)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GTCCAGTTTGCGGATCTTGTA	0.557																																						ENST00000374005.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16						c.(601-603)cGc>cAc		feline Gardner-Rasheed sarcoma viral oncogene homolog		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	171	150	157		602,602,602	4.4	1.0	1		157	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	FGR	NM_001042729.1,NM_001042747.1,NM_005248.2	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	201/530,201/530,201/530	27943448	1,13005	2203	4300	6503	SO:0001583	missense	2268				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:27943448C>T	BC064382	CCDS305.1	1p36.2-p36.1	2014-06-25	2014-06-25		ENSG00000000938	ENSG00000000938		"SH2 domain containing"	3697	protein-coding gene	gene with protein product		164940	"Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog", "v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog", "feline Gardner-Rasheed sarcoma viral oncogene homolog"	SRC2		3922831	Standard	NM_001042729		Approved	c-fgr, p55c-fgr	uc001bom.3	P09769	OTTHUMG00000003516	ENST00000374005.3:c.602G>A	1.37:g.27943448C>T	ENSP00000363117:p.Arg201His					FGR_ENST00000374004.1_Missense_Mutation_p.R201H|FGR_ENST00000545953.1_Missense_Mutation_p.R135H|FGR_ENST00000399173.1_Missense_Mutation_p.R201H	p.R201H	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	7	890	-		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	201			SH2.		D3DPL7|Q9UIQ3	Missense_Mutation	SNP	ENST00000374005.3	37	c.602G>A	CCDS305.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031590	0.75504	0.0	1.16E-4	ENSG00000000938	ENST00000374005;ENST00000545953;ENST00000399173;ENST00000374004;ENST00000374003;ENST00000457296	D;D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42;-2.42	4.38	4.38	0.52667	SH2 motif (5);	0.000000	0.56097	D	0.000040	D	0.89068	0.6610	M	0.85197	2.74	0.45541	D	0.998497	D	0.53619	0.961	B	0.37780	0.258	D	0.92007	0.5615	10	0.87932	D	0	.	16.3789	0.83431	0.0:1.0:0.0:0.0	.	201	P09769	FGR_HUMAN	H	201;135;201;201;201;201	ENSP00000363117:R201H;ENSP00000445302:R135H;ENSP00000382126:R201H;ENSP00000363116:R201H;ENSP00000363115:R201H;ENSP00000407670:R201H	ENSP00000363115:R201H	R	-	2	0	FGR	27816035	1.000000	0.71417	0.960000	0.40013	0.623000	0.37688	7.818000	0.86416	2.348000	0.79779	0.491000	0.48974	CGC		0.557	FGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009772.1	NM_005248		4	140	0	0	0	1	0	4	140					T	27943448	C	T	27943448	3	4	489	1	0	0	0	0	1	0	0	0	5874	768	27	1	1015	1	FGR	1	27943448	Missense_Mutation	SNP	C	TCGA-L6-A4EQ-01A-11D-A257-08		27943448	221307173	1	9958											
ANKRD35	148741	broad.mit.edu	37	chr1	145562072	145562072	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggatgaagagaaggagaaaaGggttcctggggctcgaggag	19	4	0	3			TCGA-L6-A4EQ-01A-11D-A257-08	TCGA-L6-A4EQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	247b1c50-5882-4714-b26e-8059705de3f2	bef85d8f-bfee-493e-a438-2465d603b02a	g.chr1:145562072G>C	ENST00000355594.4	+	10	1847	c.1760G>C	c.(1759-1761)aGg>aCg	p.R587T		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	587										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAGGAGAAAAGGGTTCCTGGG	0.582																																					Melanoma(9;127 754 22988 51047)	ENST00000355594.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47						c.(1759-1761)aGg>aCg		ankyrin repeat domain 35							42	54	50					1																	145562072		2201	4298	6499	SO:0001583	missense	148741							g.chr1:145562072G>C	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"Ankyrin repeat domain containing"	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.1760G>C	1.37:g.145562072G>C	ENSP00000347802:p.Arg587Thr						p.R587T	NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN			10	1847	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		587					A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	c.1760G>C	CCDS919.1	.	.	.	.	.	.	.	.	.	.	G	1.868	-0.460894	0.04508	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.47177	0.85	4.87	1.75	0.24633	.	0.530505	0.17196	N	0.183332	T	0.19046	0.0457	L	0.60455	1.87	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.24119	-1.0169	10	0.45353	T	0.12	-2.8407	4.6196	0.12444	0.2108:0.1779:0.6113:0.0	.	587	Q8N283	ANR35_HUMAN	T	496;587	ENSP00000347802:R587T	ENSP00000347802:R587T	R	+	2	0	ANKRD35	144273429	0.000000	0.05858	0.001000	0.08648	0.068000	0.16541	-0.170000	0.09897	0.184000	0.20083	0.655000	0.94253	AGG		0.582	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		39	50	0	0	0	1	0	39	50					C	145562072	G	C	145562072	3	2	489	1	0	0	0	0	1	0	0	0	664	1000	35	4	1798	4	ANKRD35	1	145562072	Missense_Mutation	SNP	G	TCGA-L6-A4EQ-01A-11D-A257-08	117618624	145562072	103688549	2	9959											
COPA	1314	broad.mit.edu	37	chr1	160261696	160261696	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacccacaatgtactcacgGcaaatggtgatgagctgctg	10	10	1	2			TCGA-L6-A4EQ-01A-11D-A257-08	TCGA-L6-A4EQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	247b1c50-5882-4714-b26e-8059705de3f2	bef85d8f-bfee-493e-a438-2465d603b02a	g.chr1:160261696G>A	ENST00000241704.7	-	30	3400	c.3171C>T	c.(3169-3171)tgC>tgT	p.C1057C	COPA_ENST00000368069.3_Silent_p.C1066C	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1057					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTACTCACGGCAAATGGTGA	0.522											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000241704.7																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46						c.(3169-3171)tgC>tgT		coatomer protein complex, subunit alpha							191	193	192					1																	160261696		2203	4300	6503	SO:0001819	synonymous_variant	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160261696G>A	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"WD repeat domain containing", "Endogenous ligands"	2230	protein-coding gene	gene with protein product	"proxenin", "xenin"	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.3171C>T	1.37:g.160261696G>A			OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1807	COPA_ENST00000368069.3_Silent_p.C1066C	p.C1057C	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		30	3400	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		1057					Q5T201|Q8IXZ9	Silent	SNP	ENST00000241704.7	37	c.3171C>T	CCDS1202.1																																																																																				0.522	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		5	266	0	0	0	1	0	5	266					A	160261696	G	A	160261696	2	1	489	1	0	0	0	0	0	0	0	1	3727	1195	42	2		2	COPA	1	160261696	Silent	SNP	G	TCGA-L6-A4EQ-01A-11D-A257-08	14699624	160261696	88988925	3	9960											
ATP2B4	493	broad.mit.edu	37	chr1	203671203	203671203	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggagtccctgaaaatcgcaaCaaaggtaacctctccaacta	7	12	1	1			TCGA-L6-A4EQ-01A-11D-A257-08	TCGA-L6-A4EQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	247b1c50-5882-4714-b26e-8059705de3f2	bef85d8f-bfee-493e-a438-2465d603b02a	g.chr1:203671203C>G	ENST00000357681.5	+	7	2056	c.933C>G	c.(931-933)aaC>aaG	p.N311K	ATP2B4_ENST00000367218.3_Missense_Mutation_p.N311K|ATP2B4_ENST00000391954.2_Missense_Mutation_p.N311K|ATP2B4_ENST00000367219.3_Intron|ATP2B4_ENST00000341360.2_Missense_Mutation_p.N311K	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	311					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)			AAAATCGCAACAAAGGTAACC	0.418											OREG0014124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.(931-933)aaC>aaG		ATPase, Ca++ transporting, plasma membrane 4							137	132	134					1																	203671203		2203	4300	6503	SO:0001583	missense	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203671203C>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.933C>G	1.37:g.203671203C>G	ENSP00000350310:p.Asn311Lys		OREG0014124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2138	ATP2B4_ENST00000367218.3_Missense_Mutation_p.N311K|ATP2B4_ENST00000367219.3_Intron|ATP2B4_ENST00000341360.2_Missense_Mutation_p.N311K|ATP2B4_ENST00000391954.2_Missense_Mutation_p.N311K	p.N311K	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		7	2056	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		311					B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	c.933C>G	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382999	0.61845	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000391954;ENST00000341360	D;D;D;D	0.92446	-3.04;-3.04;-3.03;-3.04	5.65	4.7	0.59300	ATPase, P-type, ATPase-associated domain (1);	.	.	.	.	D	0.89976	0.6871	N	0.04508	-0.205	0.58432	D	0.999994	B;B;D	0.69078	0.011;0.004;0.997	B;B;D	0.79108	0.022;0.012;0.992	D	0.90272	0.4308	9	0.37606	T	0.19	-29.4326	14.8862	0.70570	0.144:0.856:0.0:0.0	.	311;311;311	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	K	311	ENSP00000350310:N311K;ENSP00000356187:N311K;ENSP00000375816:N311K;ENSP00000340930:N311K	ENSP00000340930:N311K	N	+	3	2	ATP2B4	201937826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.323000	0.59221	2.673000	0.90976	0.557000	0.71058	AAC		0.418	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		16	29	0	0	0	1	0	16	29					G	203671203	C	G	203671203	3	3	489	1	0	0	0	0	1	0	0	0	1142	477	17	4	955	4	ATP2B4	1	203671203	Missense_Mutation	SNP	C	TCGA-L6-A4EQ-01A-11D-A257-08	43409507	203671203	45579418	4	9961											
KCNH1	3756	broad.mit.edu	37	chr1	210971076	210971076	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcacgcagatgtcggctctCatgtccttggggcagatctg	13	11	2	2			TCGA-L6-A4EQ-01A-11D-A257-08	TCGA-L6-A4EQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	247b1c50-5882-4714-b26e-8059705de3f2	bef85d8f-bfee-493e-a438-2465d603b02a	g.chr1:210971076C>T	ENST00000271751.4	-	9	1716	c.1689G>A	c.(1687-1689)atG>atA	p.M563I	KCNH1_ENST00000367007.4_Missense_Mutation_p.M536I			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	563					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TGTCGGCTCTCATGTCCTTGG	0.597																																						ENST00000367007.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1606-1608)atG>atA		potassium voltage-gated channel, subfamily H (eag-related), member 1							57	53	55					1																	210971076		2203	4300	6503	SO:0001583	missense	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:210971076C>T	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.1689G>A	1.37:g.210971076C>T	ENSP00000271751:p.Met563Ile					KCNH1_ENST00000271751.4_Missense_Mutation_p.M563I	p.M536I	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	9	1777	-			563					B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	c.1608G>A	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885122	0.72410	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.96265	-3.96;-3.96	5.36	5.36	0.76844	Cyclic nucleotide-binding-like (1);	0.072927	0.85682	D	0.000000	D	0.94758	0.8308	L	0.46614	1.455	0.80722	D	1	B;B	0.17667	0.023;0.023	B;B	0.20184	0.028;0.028	D	0.91733	0.5398	10	0.66056	D	0.02	.	19.0956	0.93249	0.0:1.0:0.0:0.0	.	536;563	Q14CL3;O95259	.;KCNH1_HUMAN	I	563;536	ENSP00000271751:M563I;ENSP00000355974:M536I	ENSP00000271751:M563I	M	-	3	0	KCNH1	209037699	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.538000	0.82048	2.506000	0.84524	0.655000	0.94253	ATG		0.597	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		17	36	0	0	0	1	0	17	36					T	210971076	C	T	210971076	3	4	489	1	0	0	0	0	1	0	0	0	8031	826	29	2	1292	2	KCNH1	1	210971076	Missense_Mutation	SNP	C	TCGA-L6-A4EQ-01A-11D-A257-08	7299873	210971076	38279545	5	9962											
ALLC	55821	broad.mit.edu	37	chr2	3749214	3749214	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacaagtggaaaccactgctTccagtgaccaaggttcgtgt	10	11	0	1			TCGA-L6-A4EQ-01A-11D-A257-08	TCGA-L6-A4EQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	247b1c50-5882-4714-b26e-8059705de3f2	bef85d8f-bfee-493e-a438-2465d603b02a	g.chr2:3749214T>A	ENST00000252505.3	+	11	1125	c.963T>A	c.(961-963)ctT>ctA	p.L321L	ALLC_ENST00000471711.1_3'UTR|AC010907.5_ENST00000441632.1_RNA	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	340					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		AACCACTGCTTCCAGTGACCA	0.488										HNSCC(21;0.051)																												ENST00000252505.3																			0				breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30						c.(961-963)ctT>ctA		allantoicase							65	64	64					2																	3749214		1948	4149	6097	SO:0001819	synonymous_variant	55821						allantoicase activity	g.chr2:3749214T>A	AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.963T>A	2.37:g.3749214T>A		HNSCC(21;0.051)				ALLC_ENST00000471711.1_3'UTR	p.L321L	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)	11	1125	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)	340					Q53T95|Q5RL81|Q96RE6|Q9NZA7	Silent	SNP	ENST00000252505.3	37	c.963T>A	CCDS46223.1																																																																																				0.488	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1			9	13	0	0	0	1	0	9	13					A	3749214	T	A	3749214	2	1	489	1	0	0	0	0	0	0	0	1	534	1770	62	5		5	ALLC	2	3749214	Silent	SNP	T	TCGA-L6-A4EQ-01A-11D-A257-08		3749214	239450159	6	9963											
PLCD1	5333	broad.mit.edu	37	chr3	38051629	38051629	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggggcactcccaccttgaagGcatagtcccggatggccctg	13	14	0	1			TCGA-L6-A4EQ-01A-11D-A257-08	TCGA-L6-A4EQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	247b1c50-5882-4714-b26e-8059705de3f2	bef85d8f-bfee-493e-a438-2465d603b02a	g.chr3:38051629G>C	ENST00000334661.4	-	7	1352	c.1130C>G	c.(1129-1131)gCc>gGc	p.A377G	PLCD1_ENST00000463876.1_Missense_Mutation_p.A398G|PLCD1_ENST00000479619.1_5'Flank	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	377	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CACCTTGAAGGCATAGTCCCG	0.607																																						ENST00000463876.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24						c.(1192-1194)gCc>gGc		phospholipase C, delta 1							101	100	101					3																	38051629		2203	4300	6503	SO:0001583	missense	5333				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:38051629G>C		CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"EF-hand domain containing"	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.1130C>G	3.37:g.38051629G>C	ENSP00000335600:p.Ala377Gly					PLCD1_ENST00000334661.4_Missense_Mutation_p.A377G	p.A398G	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)	7	1546	-			377			PI-PLC X-box.		B3KR14|Q86VN8	Missense_Mutation	SNP	ENST00000334661.4	37	c.1193C>G	CCDS2671.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301671	0.81136	.	.	ENSG00000187091	ENST00000463876;ENST00000334661	T;T	0.76968	-1.06;-1.06	4.98	4.98	0.66077	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.85682	D	0.000000	D	0.90137	0.6918	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.91773	0.5429	10	0.66056	D	0.02	.	18.6149	0.91299	0.0:0.0:1.0:0.0	.	377;398	P51178;B3KR14	PLCD1_HUMAN;.	G	398;377	ENSP00000430344:A398G;ENSP00000335600:A377G	ENSP00000335600:A377G	A	-	2	0	PLCD1	38026633	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	9.723000	0.98772	2.491000	0.84063	0.555000	0.69702	GCC		0.607	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253359.2			30	45	0	0	0	1	0	30	45					C	38051629	G	C	38051629	3	2	489	1	0	0	0	0	1	0	0	0	12031	1203	42	4	1176	4	PLCD1	3	38051629	Missense_Mutation	SNP	G	TCGA-L6-A4EQ-01A-11D-A257-08		38051629	159970801	7	9964											
RBP1	5947	broad.mit.edu	37	chr3	139258330	139258330	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgcaggtactcctcgaaattCtcgttgaccaacatcttcca	6	14	2	1			TCGA-L6-A4EQ-01A-11D-A257-08	TCGA-L6-A4EQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	247b1c50-5882-4714-b26e-8059705de3f2	bef85d8f-bfee-493e-a438-2465d603b02a	g.chr3:139258330C>T	ENST00000483943.2	-	1	231	c.231G>A	c.(229-231)gaG>gaA	p.E77E	RP11-319G6.1_ENST00000381790.3_RNA|RP11-319G6.1_ENST00000515247.1_RNA|RBP1_ENST00000232219.2_Silent_p.E77E|RBP1_ENST00000492918.1_Silent_p.E77E	NM_001130993.1	NP_001124465.1	P09455	RET1_HUMAN	retinol binding protein 1, cellular	15					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|vitamin A metabolic process (GO:0006776)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Acitretin(DB00459)|Vitamin A(DB00162)	CCTCGAAATTCTCGTTGACCA	0.667																																						ENST00000483943.2																			0				endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5						c.(229-231)gaG>gaA		retinol binding protein 1, cellular	Vitamin A(DB00162)						42	30	34					3																	139258330		2203	4300	6503	SO:0001819	synonymous_variant	5947					cytoplasm	retinal binding|retinol binding|transporter activity	g.chr3:139258330C>T		CCDS3110.2, CCDS46925.1, CCDS46926.1	3q21-q23	2013-03-01	2001-11-28		ENSG00000114115	ENSG00000114115		"Fatty acid binding protein family"	9919	protein-coding gene	gene with protein product		180260	"retinol-binding protein 1, cellular"			1654334, 9858824	Standard	NM_002899		Approved	CRABP-I, CRBP1, CRBP, RBPC, CRBPI	uc003eti.2	P09455	OTTHUMG00000155751	ENST00000483943.2:c.231G>A	3.37:g.139258330C>T						RBP1_ENST00000492918.1_Silent_p.E77E|RP11-319G6.1_ENST00000515247.1_RNA|RBP1_ENST00000232219.2_Silent_p.E77E	p.E77E	NM_001130993.1	NP_001124465.1	P09455	RET1_HUMAN			1	231	-			15					A8K2Q0|B7Z7A0|E7EWV0|F2Z2F2|Q6FGX8	Silent	SNP	ENST00000483943.2	37	c.231G>A	CCDS46925.1																																																																																				0.667	RBP1-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341497.2	NM_002899		10	19	0	0	0	1	0	10	19					T	139258330	C	T	139258330	2	4	489	1	0	0	0	0	0	0	0	1	13155	912	32	2		2	RBP1	3	139258330	Silent	SNP	C	TCGA-L6-A4EQ-01A-11D-A257-08	101206701	139258330	58764100	8	9965											
DMXL1	1657	broad.mit.edu	37	chr5	118533558	118533558	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtgggccacctcaaaattAtatcgcaagtcataccgccg	9	12	2	0			TCGA-L6-A4EQ-01A-11D-A257-08	TCGA-L6-A4EQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	247b1c50-5882-4714-b26e-8059705de3f2	bef85d8f-bfee-493e-a438-2465d603b02a	g.chr5:118533558A>C	ENST00000311085.8	+	32	7732	c.7652A>C	c.(7651-7653)tAt>tCt	p.Y2551S	DMXL1_ENST00000539542.1_Missense_Mutation_p.Y2551S	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2551										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CCTCAAAATTATATCGCAAGT	0.443																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(7651-7653)tAt>tCt		Dmx-like 1							124	123	124					5																	118533558		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118533558A>C	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.7652A>C	5.37:g.118533558A>C	ENSP00000309690:p.Tyr2551Ser					DMXL1_ENST00000539542.1_Missense_Mutation_p.Y2551S	p.Y2551S	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	32	7732	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2551						Missense_Mutation	SNP	ENST00000311085.8	37	c.7652A>C	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	A	14.43	2.533413	0.45073	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.16457	2.34;2.52	5.13	3.94	0.45596	.	0.170349	0.53938	D	0.000048	T	0.35508	0.0934	M	0.79123	2.44	0.51233	D	0.999911	P;P	0.52842	0.956;0.877	P;P	0.57720	0.826;0.739	T	0.12708	-1.0537	10	0.87932	D	0	-12.9877	10.118	0.42603	0.7333:0.0:0.0:0.2667	.	2551;2551	F5H269;Q9Y485	.;DMXL1_HUMAN	S	2551	ENSP00000309690:Y2551S;ENSP00000439479:Y2551S	ENSP00000309690:Y2551S	Y	+	2	0	DMXL1	118561457	1.000000	0.71417	0.989000	0.46669	0.384000	0.30261	2.636000	0.46545	0.876000	0.35872	0.379000	0.24179	TAT		0.443	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		4	161	0	0	0	1	0	4	161					C	118533558	A	C	118533558	3	2	489	1	0	0	0	0	1	0	0	0	4594	449	16	5	7778	5	DMXL1	5	118533558	Missense_Mutation	SNP	A	TCGA-L6-A4EQ-01A-11D-A257-08		118533558	62381702	9	9966											
TRIM26	7726	broad.mit.edu	37	chr6	30153814	30153814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggcgatgcccactctccGgggccgcagtgctgggaaaa	15	13	1	0			TCGA-L6-A4EQ-01A-11D-A257-08	TCGA-L6-A4EQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	247b1c50-5882-4714-b26e-8059705de3f2	bef85d8f-bfee-493e-a438-2465d603b02a	g.chr6:30153814G>A	ENST00000454678.2	-	10	1895	c.1459C>T	c.(1459-1461)Cgg>Tgg	p.R487W	TRIM26_ENST00000437089.1_Missense_Mutation_p.R487W|TRIM26_ENST00000453195.1_Missense_Mutation_p.R487W	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	487	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			lung(1)|ovary(2)	3						CCCACTCTCCGGGGCCGCAGT	0.642																																						ENST00000454678.2																			0				lung(1)|ovary(2)	3						c.(1459-1461)Cgg>Tgg		tripartite motif containing 26																																				SO:0001583	missense	7726						DNA binding|zinc ion binding	g.chr6:30153814G>A	AB088090	CCDS4678.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000234127	ENSG00000234127		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	12962	protein-coding gene	gene with protein product		600830	"tripartite motif-containing 26"	ZNF173		8530076	Standard	NM_003449		Approved	RNF95	uc003npt.3	Q12899	OTTHUMG00000031041	ENST00000454678.2:c.1459C>T	6.37:g.30153814G>A	ENSP00000410446:p.Arg487Trp					TRIM26_ENST00000453195.1_Missense_Mutation_p.R487W|TRIM26_ENST00000437089.1_Missense_Mutation_p.R487W	p.R487W	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN			10	1895	-			487			B30.2/SPRY.		A6NG96|Q5SRL2	Missense_Mutation	SNP	ENST00000454678.2	37	c.1459C>T	CCDS4678.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147009	0.37923	.	.	ENSG00000234127	ENST00000453195;ENST00000454678;ENST00000437089	T;T;T	0.71341	-0.56;-0.56;-0.56	5.53	2.39	0.29439	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.181709	0.26007	N	0.026912	T	0.74261	0.3693	M	0.87617	2.895	0.09310	N	1	D;D	0.76494	0.999;0.997	P;P	0.60609	0.877;0.828	T	0.67098	-0.5756	10	0.72032	D	0.01	.	9.307	0.37881	0.0:0.1199:0.4799:0.4002	.	487;487	Q5SRL2;Q12899	.;TRI26_HUMAN	W	487	ENSP00000391879:R487W;ENSP00000410446:R487W;ENSP00000395491:R487W	ENSP00000395491:R487W	R	-	1	2	TRIM26	30261793	0.760000	0.28428	0.067000	0.19924	0.880000	0.50808	0.929000	0.28844	0.674000	0.31244	0.446000	0.29264	CGG		0.642	TRIM26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253442.1	NM_003449		11	7	0	0	0	1	0	11	7					A	30153814	G	A	30153814	3	1	489	1	0	0	0	0	1	0	0	0	16497	1115	39	1	164	1	TRIM26	6	30153814	Missense_Mutation	SNP	G	TCGA-L6-A4EQ-01A-11D-A257-08		30153814	140961253	10	9967											
MSH5	4439	broad.mit.edu	37	chr6	31727947	31727947	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggacaaagggagggtcaaagTcatcactggacccaactcat	11	10	4	0			TCGA-L6-A4EQ-01A-11D-A257-08	TCGA-L6-A4EQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	247b1c50-5882-4714-b26e-8059705de3f2	bef85d8f-bfee-493e-a438-2465d603b02a	g.chr6:31727947T>A	ENST00000375755.3	+	19	2052	c.1766T>A	c.(1765-1767)gTc>gAc	p.V589D	MSH5_ENST00000375740.3_Missense_Mutation_p.V606D|MSH5_ENST00000375703.3_Missense_Mutation_p.V589D|SAPCD1_ENST00000415669.2_5'Flank|SAPCD1_ENST00000425424.1_5'Flank|MSH5_ENST00000431848.2_Missense_Mutation_p.V288D|MSH5_ENST00000534153.4_Missense_Mutation_p.V606D|MSH5-SAPCD1_ENST00000493662.2_Missense_Mutation_p.V606D|MSH5_ENST00000395853.1_Missense_Mutation_p.V263D|MSH5_ENST00000375750.3_Missense_Mutation_p.V589D|MSH5_ENST00000375742.3_Missense_Mutation_p.V606D	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	589					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|ovary(2)|skin(2)	5						AGGGTCAAAGTCATCACTGGA	0.567								Direct reversal of damage;Mismatch excision repair (MMR)																														ENST00000493662.2																			0											c.(1816-1818)gTc>gAc									112	106	108					6																	31727947		2203	4300	6503	SO:0001583	missense	0							g.chr6:31727947T>A	AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"mutS (E. coli) homolog 5", "mutS homolog 5 (E. coli)"			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.1766T>A	6.37:g.31727947T>A	ENSP00000364908:p.Val589Asp					MSH5_ENST00000431848.2_Missense_Mutation_p.V288D|MSH5_ENST00000375755.3_Missense_Mutation_p.V589D|MSH5_ENST00000375703.3_Missense_Mutation_p.V589D|MSH5_ENST00000534153.4_Missense_Mutation_p.V606D|MSH5_ENST00000375740.3_Missense_Mutation_p.V606D|MSH5_ENST00000375742.3_Missense_Mutation_p.V606D|MSH5_ENST00000375750.3_Missense_Mutation_p.V589D|MSH5_ENST00000395853.1_Missense_Mutation_p.V263D	p.V606D							19	1873	+								B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Missense_Mutation	SNP	ENST00000375755.3	37	c.1817T>A	CCDS4720.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.886614	0.91814	.	.	ENSG00000204410	ENST00000375755;ENST00000375742;ENST00000383401;ENST00000375750;ENST00000534153;ENST00000375703;ENST00000375740;ENST00000431848;ENST00000395853	D;D;D;D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3	6.06	6.06	0.98353	DNA mismatch repair protein MutS, C-terminal (2);	0.114093	0.56097	D	0.000033	D	0.92864	0.7730	M	0.89353	3.025	0.40186	D	0.977354	D;D;D;D;D	0.64830	0.994;0.992;0.989;0.992;0.992	P;D;P;P;P	0.63793	0.887;0.918;0.863;0.89;0.872	D	0.94233	0.7478	9	0.87932	D	0	4.1123	14.5614	0.68140	0.0:0.0:0.0:1.0	.	274;606;589;589;606	Q59EC5;O43196-4;O43196;O43196-2;O43196-3	.;.;MSH5_HUMAN;.;.	D	589;606;121;589;606;589;606;288;263	ENSP00000364908:V589D;ENSP00000364894:V606D;ENSP00000364903:V589D;ENSP00000431693:V606D;ENSP00000364855:V589D;ENSP00000364892:V606D;ENSP00000416784:V288D;ENSP00000379194:V263D	ENSP00000364855:V589D	V	+	2	0	MSH5	31835926	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.072000	0.76777	2.324000	0.78689	0.533000	0.62120	GTC		0.567	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4			51	75	0	0	0	1	0	51	75					A	31727947	T	A	31727947	3	1	489	1	0	0	0	0	1	0	0	0	9873	1667	58	5	1887	5	MSH5	6	31727947	Missense_Mutation	SNP	T	TCGA-L6-A4EQ-01A-11D-A257-08	1574133	31727947	139387120	11	9968											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-L6-A4EQ-01A-11D-A257-08	TCGA-L6-A4EQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	247b1c50-5882-4714-b26e-8059705de3f2	bef85d8f-bfee-493e-a438-2465d603b02a	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		33	52	0	0	0	1	0	33	52					T	140453136	A	T	140453136	3	4	489	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-L6-A4EQ-01A-11D-A257-08		140453136	18685527	12	9969											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18817126	18817126	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaagccactagtgaaaacGtcacgaatgacagtgatcaa	10	8	2	3			TCGA-L6-A4EQ-01A-11D-A257-08	TCGA-L6-A4EQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	247b1c50-5882-4714-b26e-8059705de3f2	bef85d8f-bfee-493e-a438-2465d603b02a	g.chr9:18817126G>A	ENST00000380548.4	+	21	4164	c.3825G>A	c.(3823-3825)acG>acA	p.T1275T		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1275						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)		TAGTGAAAACGTCACGAATGA	0.448																																						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.(3823-3825)acG>acA		ADAMTS-like 1																																				SO:0001819	synonymous_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18817126G>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.3825G>A	9.37:g.18817126G>A							p.T1275T	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	21	4164	+			1275					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	37	c.3825G>A	CCDS47954.1																																																																																				0.448	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			5	8	0	0	0	1	0	5	8					A	18817126	G	A	18817126	2	1	489	1	0	0	0	0	0	0	0	1	274	1132	40	1		1	ADAMTSL1	9	18817126	Silent	SNP	G	TCGA-L6-A4EQ-01A-11D-A257-08		18817126	122396305	13	9970											
LRRC19	64922	broad.mit.edu	37	chr9	26999613	26999613	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tttgattgtaaaaacttactCttttagaagactggattttg	7	4	1	3			TCGA-L6-A4EQ-01A-11D-A257-08	TCGA-L6-A4EQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	247b1c50-5882-4714-b26e-8059705de3f2	bef85d8f-bfee-493e-a438-2465d603b02a	g.chr9:26999613C>G	ENST00000380055.5	-	2	190	c.80G>C	c.(79-81)aGa>aCa	p.R27T	IFT74_ENST00000443698.1_Intron|LRRC19_ENST00000482770.1_5'Flank|IFT74_ENST00000429045.2_Intron|IFT74_ENST00000433700.1_Intron|IFT74_ENST00000380062.5_Intron	NM_022901.2	NP_075052.1	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19	27						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|lung(2)	6		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		AAAACTTACTCTTTTAGAAGA	0.303																																						ENST00000380055.5																			0				breast(1)|endometrium(2)|kidney(1)|lung(2)	6						c.e2+1		leucine rich repeat containing 19							51	56	54					9																	26999613		2203	4300	6503	SO:0001630	splice_region_variant	64922					integral to membrane		g.chr9:26999613C>G	AK024955	CCDS6518.1	9p21.1	2008-02-05			ENSG00000184434	ENSG00000184434			23379	protein-coding gene	gene with protein product							Standard	NM_022901		Approved	FLJ21302	uc003zqh.3	Q9H756	OTTHUMG00000019710	ENST00000380055.5:c.81+1G>C	9.37:g.26999613C>G						IFT74_ENST00000380062.5_Intron|IFT74_ENST00000433700.1_Intron|IFT74_ENST00000429045.2_Intron|IFT74_ENST00000443698.1_Intron	p.R27_splice	NM_022901.2	NP_075052.1	Q9H756	LRC19_HUMAN		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)	2	190	-		all_neural(11;1.81e-09)	27					A0AV00|B9EG91	Splice_Site	SNP	ENST00000380055.5	37	c.81_splice	CCDS6518.1	.	.	.	.	.	.	.	.	.	.	C	6.093	0.385418	0.11524	.	.	ENSG00000184434	ENST00000380055	T	0.51817	0.69	4.78	-0.827	0.10802	.	0.741578	0.12725	N	0.444339	T	0.08714	0.0216	N	0.00119	-2.075	0.24539	N	0.994071	B	0.02656	0.0	B	0.01281	0.0	T	0.40720	-0.9548	10	0.02654	T	1	-0.3874	6.211	0.20630	0.1851:0.469:0.3459:0.0	.	27	Q9H756	LRC19_HUMAN	T	27	ENSP00000369395:R27T	ENSP00000369395:R27T	R	-	2	0	LRRC19	26989613	0.923000	0.31300	0.978000	0.43139	0.874000	0.50279	-0.108000	0.10857	0.025000	0.15241	-0.226000	0.12346	AGA		0.303	LRRC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051961.2	NM_022901	Missense_Mutation	8	13	0	0	0	1	0	8	13					G	26999613	C	G	26999613	5	3	489	1	0	0	0	0	0	0	1	0	8975	927	32	4	1048	4	LRRC19	9	26999613	Splice_Site	SNP	C	TCGA-L6-A4EQ-01A-11D-A257-08	8182487	26999613	114213818	14	9971											
BRD3	8019	broad.mit.edu	37	chr9	136901310	136901310	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggatgatgtgcactacccGgcccagcttctccccgggca	11	15	1	1			TCGA-L6-A4EQ-01A-11D-A257-08	TCGA-L6-A4EQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	247b1c50-5882-4714-b26e-8059705de3f2	bef85d8f-bfee-493e-a438-2465d603b02a	g.chr9:136901310G>A	ENST00000303407.7	-	10	1965	c.1780C>T	c.(1780-1782)Cgg>Tgg	p.R594W	LINC00094_ENST00000605164.1_RNA|BRD3_ENST00000371834.2_3'UTR|BRD3_ENST00000473349.1_5'UTR	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	594	NET. {ECO:0000255|PROSITE- ProRule:PRU00857}.				chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		TGCACTACCCGGCCCAGCTTC	0.582			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000303407.7				Dom	yes		9	9q34	8019	T	bromodomain containing 3			E	C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	0				kidney(1)|skin(1)|stomach(4)	6						c.(1780-1782)Cgg>Tgg		bromodomain containing 3							71	69	69					9																	136901310		2203	4300	6503	SO:0001583	missense	8019					nucleus	protein binding	g.chr9:136901310G>A		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"RING3-like"	601541	"bromodomain-containing 3"			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.1780C>T	9.37:g.136901310G>A	ENSP00000305918:p.Arg594Trp					BRD3_ENST00000473349.1_5'UTR|BRD3_ENST00000371834.2_3'UTR	p.R594W	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	10	1965	-			594					B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Missense_Mutation	SNP	ENST00000303407.7	37	c.1780C>T	CCDS6980.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.189403	0.78789	.	.	ENSG00000169925	ENST00000303407;ENST00000540795	T	0.27256	1.68	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000004	T	0.56558	0.1993	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.65138	-0.6241	10	0.87932	D	0	-8.8559	14.2026	0.65714	0.0:0.0:0.8503:0.1497	.	594	Q15059	BRD3_HUMAN	W	594;273	ENSP00000305918:R594W	ENSP00000305918:R594W	R	-	1	2	BRD3	135891131	1.000000	0.71417	0.999000	0.59377	0.873000	0.50193	3.400000	0.52594	2.403000	0.81681	0.491000	0.48974	CGG		0.582	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		6	66	0	0	0	1	0	6	66					A	136901310	G	A	136901310	3	1	489	1	0	0	0	0	1	0	0	0	1503	1115	39	1	412	1	BRD3	9	136901310	Missense_Mutation	SNP	G	TCGA-L6-A4EQ-01A-11D-A257-08	109901697	136901310	4312121	15	9972											
MEFV	4210	broad.mit.edu	37	chr16	3293676	3293676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttggggtaagcggtttctGcatccagaatcacattaact	11	8	2	1			TCGA-L6-A4EQ-01A-11D-A257-08	TCGA-L6-A4EQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	247b1c50-5882-4714-b26e-8059705de3f2	bef85d8f-bfee-493e-a438-2465d603b02a	g.chr16:3293676G>A	ENST00000219596.1	-	10	1850	c.1811C>T	c.(1810-1812)gCa>gTa	p.A604V	MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Missense_Mutation_p.A424V|MEFV_ENST00000536379.1_Missense_Mutation_p.A393V	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	604	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						AGCGGTTTCTGCATCCAGAAT	0.488																																						ENST00000219596.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(1810-1812)gCa>gTa		Mediterranean fever	Colchicine(DB01394)						147	161	156					16																	3293676		2197	4300	6497	SO:0001583	missense	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3293676G>A	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1811C>T	16.37:g.3293676G>A	ENSP00000219596:p.Ala604Val					MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Missense_Mutation_p.A424V|MEFV_ENST00000536379.1_Missense_Mutation_p.A393V	p.A604V	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			10	1850	-			604			B30.2/SPRY.		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	c.1811C>T	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696442	0.48202	.	.	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000536379	T;T;T	0.10382	2.88;2.88;2.88	5.3	-3.79	0.04320	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	1.477610	0.04189	N	0.327958	T	0.07638	0.0192	L	0.31804	0.96	0.09310	N	1	B	0.20164	0.042	B	0.14578	0.011	T	0.36261	-0.9755	10	0.45353	T	0.12	-7.7931	4.3245	0.11034	0.3962:0.0:0.3666:0.2372	.	604	O15553	MEFV_HUMAN	V	604;604;424;393	ENSP00000219596:A604V;ENSP00000339639:A424V;ENSP00000445079:A393V	ENSP00000219596:A604V	A	-	2	0	MEFV	3233677	0.874000	0.30092	0.228000	0.23943	0.801000	0.45260	2.070000	0.41491	-0.950000	0.03659	-0.188000	0.12872	GCA		0.488	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		10	298	0	0	0	1	0	10	298					A	3293676	G	A	3293676	3	1	489	1	0	0	0	0	1	0	0	0	9459	1319	46	2	538	2	MEFV	16	3293676	Missense_Mutation	SNP	G	TCGA-L6-A4EQ-01A-11D-A257-08		3293676	87061077	16	9973											
RNF40	9810	broad.mit.edu	37	chr16	30780529	30780529	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaggctctgctctcagAgatggatgtgacaggtcagg	17	7	3	2			TCGA-L6-A4EQ-01A-11D-A257-08	TCGA-L6-A4EQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	247b1c50-5882-4714-b26e-8059705de3f2	bef85d8f-bfee-493e-a438-2465d603b02a	g.chr16:30780529A>C	ENST00000324685.6	+	16	2705	c.2270A>C	c.(2269-2271)gAg>gCg	p.E757A	RNF40_ENST00000563683.1_Missense_Mutation_p.E717A|RNF40_ENST00000357890.5_Missense_Mutation_p.E657A|RNF40_ENST00000402121.3_Missense_Mutation_p.E449A	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	757					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CTGCTCTCAGAGATGGATGTG	0.547																																						ENST00000324685.6																			0				central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30						c.(2269-2271)gAg>gCg		ring finger protein 40, E3 ubiquitin protein ligase							114	117	116					16																	30780529		2197	4300	6497	SO:0001583	missense	9810				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding	g.chr16:30780529A>C	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"RING-type (C3HC4) zinc fingers"	16867	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"	607700	"ring finger protein 40"			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.2270A>C	16.37:g.30780529A>C	ENSP00000325677:p.Glu757Ala					RNF40_ENST00000357890.5_Missense_Mutation_p.E657A|RNF40_ENST00000563683.1_Missense_Mutation_p.E717A|RNF40_ENST00000402121.3_Missense_Mutation_p.E449A	p.E757A	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	Colorectal(24;0.198)		16	2705	+			757					Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	ENST00000324685.6	37	c.2270A>C	CCDS10691.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.204931	0.79127	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000402121;ENST00000538323	T;T;T	0.62788	-0.0;0.03;0.11	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.80053	0.4553	M	0.81942	2.565	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.87578	0.994;0.998;0.986;0.997;0.997	T	0.83009	-0.0173	10	0.87932	D	0	-34.7099	14.8515	0.70300	1.0:0.0:0.0:0.0	.	89;449;657;757;757	F6SYU7;F8W8Z4;O75150-4;A8K6K1;O75150	.;.;.;.;BRE1B_HUMAN	A	757;657;449;89	ENSP00000325677:E757A;ENSP00000350563:E657A;ENSP00000384942:E449A	ENSP00000325677:E757A	E	+	2	0	RNF40	30688030	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	8.962000	0.93254	2.150000	0.67090	0.533000	0.62120	GAG		0.547	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771		6	135	0	0	0	1	0	6	135					C	30780529	A	C	30780529	3	2	489	1	0	0	0	0	1	0	0	0	13493	304	11	5	2328	5	RNF40	16	30780529	Missense_Mutation	SNP	A	TCGA-L6-A4EQ-01A-11D-A257-08	27486853	30780529	59574224	17	9974											
PLA2G15	23659	broad.mit.edu	37	chr16	68289778	68289778	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtatgggcaacatgtacacGctctactttctgcagcggca	10	11	2	0			TCGA-L6-A4EQ-01A-11D-A257-08	TCGA-L6-A4EQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	247b1c50-5882-4714-b26e-8059705de3f2	bef85d8f-bfee-493e-a438-2465d603b02a	g.chr16:68289778G>A	ENST00000219345.5	+	5	695	c.612G>A	c.(610-612)acG>acA	p.T204T	PLA2G15_ENST00000444212.2_Intron|RP11-96D1.7_ENST00000569843.1_RNA|PLA2G15_ENST00000413021.2_Intron|RP11-96D1.7_ENST00000563175.1_RNA|PLA2G15_ENST00000566188.1_Intron	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	204					ceramide metabolic process (GO:0006672)|fatty acid catabolic process (GO:0009062)|phosphatidylcholine metabolic process (GO:0046470)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)|O-acyltransferase activity (GO:0008374)|phospholipid binding (GO:0005543)			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						ACATGTACACGCTCTACTTTC	0.637																																						ENST00000219345.5																			0				kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						c.(610-612)acG>acA		phospholipase A2, group XV							40	43	42					16																	68289778		2198	4300	6498	SO:0001819	synonymous_variant	23659				fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding	g.chr16:68289778G>A	AB017494	CCDS10864.1	16q22.1	2008-09-19	2008-09-19	2008-09-19	ENSG00000103066	ENSG00000103066			17163	protein-coding gene	gene with protein product		609362	"lysophospholipase 3 (lysosomal phospholipase A2)"	LYPLA3		10092508, 16973413	Standard	XM_005255886		Approved	LLPL, GXVPLA2	uc002evr.3	Q8NCC3	OTTHUMG00000137554	ENST00000219345.5:c.612G>A	16.37:g.68289778G>A						PLA2G15_ENST00000566188.1_Intron|PLA2G15_ENST00000444212.2_Intron|PLA2G15_ENST00000413021.2_Intron	p.T204T	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN			5	695	+			204					B3KMF3|B4DUD1|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3	Silent	SNP	ENST00000219345.5	37	c.612G>A	CCDS10864.1																																																																																				0.637	PLA2G15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268888.2	NM_012320		30	36	0	0	0	1	0	30	36					A	68289778	G	A	68289778	2	1	489	1	0	0	0	0	0	0	0	1	11992	1074	38	1		1	PLA2G15	16	68289778	Silent	SNP	G	TCGA-L6-A4EQ-01A-11D-A257-08	37509249	68289778	22064975	18	9975											
VPS53	55275	broad.mit.edu	37	chr17	556535	556535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctggtgacagtttacctttCggaaagctgccggatctgcg	12	10	2	1			TCGA-L6-A4EQ-01A-11D-A257-08	TCGA-L6-A4EQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	247b1c50-5882-4714-b26e-8059705de3f2	bef85d8f-bfee-493e-a438-2465d603b02a	g.chr17:556535C>T	ENST00000571805.1	-	7	740	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	VPS53_ENST00000446250.2_5'UTR|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000291074.5_Missense_Mutation_p.E173K|VPS53_ENST00000437048.2_Missense_Mutation_p.E202K|VPS53_ENST00000401468.3_Intron|VPS53_ENST00000576149.1_Intron			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	202					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		GTTTACCTTTCGGAAAGCTGC	0.483																																						ENST00000437048.2																			0				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19						c.(604-606)Gaa>Aaa		vacuolar protein sorting 53 homolog (S. cerevisiae)							80	80	80					17																	556535		2203	4299	6502	SO:0001583	missense	55275				protein transport	endosome membrane|Golgi apparatus		g.chr17:556535C>T		CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"vacuolar protein sorting 53 (yeast)"			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.604G>A	17.37:g.556535C>T	ENSP00000459312:p.Glu202Lys					VPS53_ENST00000401468.3_Intron|VPS53_ENST00000576149.1_Intron|VPS53_ENST00000291074.5_Missense_Mutation_p.E173K|VPS53_ENST00000446250.2_5'UTR|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000571805.1_Missense_Mutation_p.E202K	p.E202K	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)	7	750	-			202					A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Missense_Mutation	SNP	ENST00000571805.1	37	c.604G>A		.	.	.	.	.	.	.	.	.	.	C	16.90	3.248797	0.59103	.	.	ENSG00000141252	ENST00000437048;ENST00000291074;ENST00000389040	T;T;T	0.31510	1.49;1.49;1.49	5.6	5.6	0.85130	Vps53-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.22244	0.0536	N	0.16201	0.385	0.80722	D	1	B;B;P	0.37038	0.209;0.211;0.579	B;B;B	0.35727	0.029;0.103;0.209	T	0.03695	-1.1012	10	0.40728	T	0.16	.	18.5315	0.90993	0.0:1.0:0.0:0.0	.	202;202;173	Q5VIR6-4;Q5VIR6;Q5VIR6-2	.;VPS53_HUMAN;.	K	202;173;202	ENSP00000401435:E202K;ENSP00000291074:E173K;ENSP00000373692:E202K	ENSP00000291074:E173K	E	-	1	0	VPS53	503285	1.000000	0.71417	0.997000	0.53966	0.261000	0.26267	7.176000	0.77643	2.800000	0.96347	0.543000	0.68304	GAA		0.483	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2	NM_018289		5	185	0	0	0	1	0	5	185					T	556535	C	T	556535	3	4	489	1	0	0	0	0	1	0	0	0	17212	893	31	1	1973	1	VPS53	17	556535	Missense_Mutation	SNP	C	TCGA-L6-A4EQ-01A-11D-A257-08		556535	80638675	19	9976											
FBN3	84467	broad.mit.edu	37	chr19	8168496	8168496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtactctgcagggcagacaCaggtgtagttccccagggtg	15	10	1	1			TCGA-L6-A4EQ-01A-11D-A257-08	TCGA-L6-A4EQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	247b1c50-5882-4714-b26e-8059705de3f2	bef85d8f-bfee-493e-a438-2465d603b02a	g.chr19:8168496C>T	ENST00000600128.1	-	39	5303	c.4889G>A	c.(4888-4890)tGt>tAt	p.C1630Y	FBN3_ENST00000270509.2_Missense_Mutation_p.C1630Y|FBN3_ENST00000601739.1_Missense_Mutation_p.C1630Y			Q75N90	FBN3_HUMAN	fibrillin 3	1630	EGF-like 25; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGGGCAGACACAGGTGTAGTT	0.562																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(4888-4890)tGt>tAt		fibrillin 3							147	120	129					19																	8168496		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8168496C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.4889G>A	19.37:g.8168496C>T	ENSP00000470498:p.Cys1630Tyr					FBN3_ENST00000601739.1_Missense_Mutation_p.C1630Y|FBN3_ENST00000270509.2_Missense_Mutation_p.C1630Y	p.C1630Y			Q75N90	FBN3_HUMAN			39	5303	-			1630			EGF-like 25; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.4889G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056453	0.76074	.	.	ENSG00000142449	ENST00000270509	D	0.99445	-5.91	3.76	3.76	0.43208	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.99782	0.9909	H	0.99415	4.555	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.96501	0.9371	10	0.87932	D	0	.	15.9309	0.79659	0.0:1.0:0.0:0.0	.	1630	Q75N90	FBN3_HUMAN	Y	1630	ENSP00000270509:C1630Y	ENSP00000270509:C1630Y	C	-	2	0	FBN3	8074496	1.000000	0.71417	0.994000	0.49952	0.926000	0.56050	7.168000	0.77570	1.797000	0.52628	0.491000	0.48974	TGT		0.562	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		41	45	0	0	0	1	0	41	45					T	8168496	C	T	8168496	3	4	489	1	0	0	0	0	1	0	0	0	5704	478	17	2	3644	2	FBN3	19	8168496	Missense_Mutation	SNP	C	TCGA-L6-A4EQ-01A-11D-A257-08		8168496	50960487	20	9977											
U2AF1	7307	broad.mit.edu	37	chr21	44513235	44513235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaatcgcccagatctttcacGatctctcgaccgcctcctgt	7	16	3	1			TCGA-L6-A4EQ-01A-11D-A257-08	TCGA-L6-A4EQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	247b1c50-5882-4714-b26e-8059705de3f2	bef85d8f-bfee-493e-a438-2465d603b02a	g.chr21:44513235G>A	ENST00000291552.4	-	8	792	c.700C>T	c.(700-702)Cgt>Tgt	p.R234C	U2AF1_ENST00000380276.2_Missense_Mutation_p.R234C|U2AF1_ENST00000459639.1_Missense_Mutation_p.R161C|U2AF1_ENST00000398137.1_Missense_Mutation_p.R161C|U2AF1_ENST00000486519.1_5'Flank	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	234	Arg/Gly/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GATCTTTCACGATCTCTCGAC	0.552			Mis		"CLL, MDS"																																	ENST00000459639.1				Dom	yes		21	21q22.3	7307	Mis	U2 small nuclear RNA auxiliary factor 1			L			"CLL, MDS"		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						c.(481-483)Cgt>Tgt		U2 small nuclear RNA auxiliary factor 1							55	60	58					21																	44513235		2203	4300	6503	SO:0001583	missense	7307				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr21:44513235G>A	BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"RNA binding motif (RRM) containing"	12453	protein-coding gene	gene with protein product		191317	"U2(RNU2) small nuclear RNA auxiliary factor binding protein", "U2(RNU2) small nuclear RNA auxiliary factor 1"	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.700C>T	21.37:g.44513235G>A	ENSP00000291552:p.Arg234Cys					U2AF1_ENST00000398137.1_Missense_Mutation_p.R161C|U2AF1_ENST00000291552.4_Missense_Mutation_p.R234C|U2AF1_ENST00000380276.2_Missense_Mutation_p.R234C	p.R161C			Q01081	U2AF1_HUMAN			7	1505	-			234					Q701P4|Q71RF1	Missense_Mutation	SNP	ENST00000291552.4	37	c.481C>T	CCDS13694.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.411142	0.42817	.	.	ENSG00000160201	ENST00000459639;ENST00000380276;ENST00000291552;ENST00000398137	T;T;T;T	0.13196	2.61;2.61;2.61;2.61	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.33556	0.0867	L	0.61218	1.895	0.80722	D	1	D;D	0.63046	0.992;0.992	D;D	0.63877	0.919;0.919	T	0.02244	-1.1189	10	0.39692	T	0.17	-13.3832	18.2435	0.89977	0.0:0.0:1.0:0.0	.	234;234	Q01081;Q701P4	U2AF1_HUMAN;.	C	161;234;234;161	ENSP00000418705:R161C;ENSP00000369629:R234C;ENSP00000291552:R234C;ENSP00000381205:R161C	ENSP00000291552:R234C	R	-	1	0	U2AF1	43386304	1.000000	0.71417	0.099000	0.21106	0.683000	0.39861	3.728000	0.54991	2.371000	0.80710	0.563000	0.77884	CGT		0.552	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195541.1	NM_006758		6	84	0	0	0	1	0	6	84					A	44513235	G	A	44513235	3	1	489	1	0	0	0	0	1	0	0	0	16818	1058	37	1	26	1	U2AF1	21	44513235	Missense_Mutation	SNP	G	TCGA-L6-A4EQ-01A-11D-A257-08		44513235	3616660	21	9978											
USP9X	8239	broad.mit.edu	37	chrX	41043349	41043349	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ttgactcacttttctttggtCcttcagcctcacaagtgcta	6	12	4	1			TCGA-L6-A4EQ-01A-11D-A257-08	TCGA-L6-A4EQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	247b1c50-5882-4714-b26e-8059705de3f2	bef85d8f-bfee-493e-a438-2465d603b02a	g.chrX:41043349C>G	ENST00000324545.8	+	22	3880	c.3247C>G	c.(3247-3249)Cct>Gct	p.P1083A	USP9X_ENST00000378308.2_Missense_Mutation_p.P1083A	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1083					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTTCTTTGGTCCTTCAGCCTC	0.353																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(3247-3249)Cct>Gct		ubiquitin specific peptidase 9, X-linked							172	155	160					X																	41043349		1990	4189	6179	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41043349C>G	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.3247C>G	X.37:g.41043349C>G	ENSP00000316357:p.Pro1083Ala					USP9X_ENST00000378308.2_Missense_Mutation_p.P1083A	p.P1083A	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			22	3880	+			1083					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.3247C>G	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.010086	0.54361	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.15718	2.4;2.4	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.08626	0.0214	N	0.03608	-0.345	0.80722	D	1	B;B	0.10296	0.003;0.002	B;B	0.10450	0.005;0.001	T	0.20405	-1.0276	10	0.08179	T	0.78	.	18.2822	0.90102	0.0:1.0:0.0:0.0	.	1083;1083	Q93008-1;Q93008	.;USP9X_HUMAN	A	1083	ENSP00000367558:P1083A;ENSP00000316357:P1083A	ENSP00000316357:P1083A	P	+	1	0	USP9X	40928293	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.398000	0.79919	2.255000	0.74692	0.513000	0.50165	CCT		0.353	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		9	70	0	0	0	1	0	9	70					G	41043349	C	G	41043349	3	3	489	1	0	0	0	0	1	0	0	0	17087	855	30	4	3329	4	USP9X	23	41043349	Missense_Mutation	SNP	C	TCGA-L6-A4EQ-01A-11D-A257-08		41043349	114227211	22	9979											
ANGPTL7	10218	broad.mit.edu	37	chr1	11249916	11249916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcaagcgcatggagtcgCggctcacagatgctgagagc	14	11	1	2			TCGA-L6-A4ET-01A-11D-A257-08	TCGA-L6-A4ET-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546b97b0-ab82-42a1-bbd2-241523278ec3	ea509942-fcac-486f-ac3d-37457bab29db	g.chr1:11249916C>T	ENST00000376819.3	+	1	519	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	94					response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)		p.R94W(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		CATGGAGTCGCGGCTCACAGA	0.557																																						ENST00000376819.3																			1	Substitution - Missense(1)	p.R94W(1)	large_intestine(1)	endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10						c.(280-282)Cgg>Tgg		angiopoietin-like 7							94	87	89					1																	11249916		2203	4300	6503	SO:0001583	missense	10218				response to oxidative stress|signal transduction	extracellular region	receptor binding	g.chr1:11249916C>T	Y16132	CCDS128.1	1p36	2013-02-06			ENSG00000171819	ENSG00000171819		"Fibrinogen C domain containing"	24078	protein-coding gene	gene with protein product						9727400, 11682471	Standard	NM_021146		Approved	CDT6, AngX	uc001ase.4	O43827	OTTHUMG00000002002	ENST00000376819.3:c.280C>T	1.37:g.11249916C>T	ENSP00000366015:p.Arg94Trp					MTOR_ENST00000361445.4_Intron	p.R94W	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)	1	519	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	94					B2R9B2|F1T0A6|Q4ZGK4	Missense_Mutation	SNP	ENST00000376819.3	37	c.280C>T	CCDS128.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277660	0.80692	.	.	ENSG00000171819	ENST00000376819	T	0.56275	0.47	5.07	4.15	0.48705	.	0.363377	0.28470	N	0.015232	T	0.62245	0.2412	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.64236	-0.6455	10	0.51188	T	0.08	.	15.1848	0.72993	0.1422:0.8578:0.0:0.0	.	94	O43827	ANGL7_HUMAN	W	94	ENSP00000366015:R94W	ENSP00000366015:R94W	R	+	1	2	ANGPTL7	11172503	1.000000	0.71417	0.883000	0.34634	0.956000	0.61745	4.588000	0.60999	1.251000	0.43983	0.655000	0.94253	CGG		0.557	ANGPTL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005564.1	NM_021146		4	34	0	0	0	1	0	4	34					T	11249916	C	T	11249916	3	4	490	1	0	0	0	0	1	0	0	0	619	759	27	1	282	1	ANGPTL7	1	11249916	Missense_Mutation	SNP	C	TCGA-L6-A4ET-01A-11D-A257-08		11249916	238000705	1	9980											
OSCP1	127700	broad.mit.edu	37	chr1	36898067	36898067	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccacttgctgcaggatggTtggggagtctcggatgaatc	15	8	1	1	rs34409118	byFrequency	TCGA-L6-A4ET-01A-11D-A257-08	TCGA-L6-A4ET-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546b97b0-ab82-42a1-bbd2-241523278ec3	ea509942-fcac-486f-ac3d-37457bab29db	g.chr1:36898067T>C	ENST00000356637.5	-	4	484	c.421A>G	c.(421-423)Acc>Gcc	p.T141A	OSCP1_ENST00000354267.3_Missense_Mutation_p.T131A|OSCP1_ENST00000433045.2_Missense_Mutation_p.T86A|OSCP1_ENST00000315643.9_Missense_Mutation_p.T141A|OSCP1_ENST00000235532.5_Missense_Mutation_p.T131A			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	141			T -> A (in dbSNP:rs34409118). {ECO:0000269|PubMed:16006562}.		transport (GO:0006810)	plasma membrane (GO:0005886)		p.T141A(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						TGCAGGATGGTTGGGGAGTCT	0.502													T|||	1042	0.208067	0.1604	0.1369	5008	,	,		21091	0.2599		0.2048	False		,,,				2504	0.273					ENST00000356637.5																			2	Substitution - Missense(2)	p.T141A(2)	stomach(1)|pancreas(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						c.(421-423)Acc>Gcc		organic solute carrier partner 1		T	ALA/THR,ALA/THR	794,3612	317.4+/-295.1	67,660,1476	128	113	118		391,391	-1.4	1.0	1	dbSNP_126	118	1836,6764	329.8+/-318.9	202,1432,2666	yes	missense,missense	OSCP1	NM_145047.4,NM_206837.2	58,58	269,2092,4142	CC,CT,TT		21.3488,18.0209,20.2214	benign,benign	131/380,131/224	36898067	2630,10376	2203	4300	6503	SO:0001583	missense	127700				transport	basal plasma membrane		g.chr1:36898067T>C		CCDS409.1, CCDS410.1, CCDS409.2	1p34.3	2009-07-06	2009-07-06	2009-07-06	ENSG00000116885	ENSG00000116885			29971	protein-coding gene	gene with protein product	"oxidored nitro domain containing protein"	608854	"chromosome 1 open reading frame 102"	C1orf102		12477932	Standard	NM_145047		Approved	NOR1	uc001caq.3	Q8WVF1	OTTHUMG00000008139	ENST00000356637.5:c.421A>G	1.37:g.36898067T>C	ENSP00000349052:p.Thr141Ala					OSCP1_ENST00000315643.9_Missense_Mutation_p.T141A|OSCP1_ENST00000433045.2_Missense_Mutation_p.T86A|OSCP1_ENST00000235532.5_Missense_Mutation_p.T131A|OSCP1_ENST00000354267.3_Missense_Mutation_p.T131A	p.T141A			Q8WVF1	OSCP1_HUMAN			4	484	-			141		T -> A (in dbSNP:rs34409118).			A6NHM5|A6NHS9|A6NIN9|Q4AEJ0|Q8N7G2|Q8TDF1	Missense_Mutation	SNP	ENST00000356637.5	37	c.421A>G		420	0.19230769230769232	65	0.13211382113821138	58	0.16022099447513813	144	0.2517482517482518	153	0.20184696569920843	T	1.622	-0.521352	0.04171	0.180209	0.213488	ENSG00000116885	ENST00000235532;ENST00000356637;ENST00000433045;ENST00000445843;ENST00000315643;ENST00000354267	T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64	5.6	-1.39	0.08997	.	0.615809	0.16766	N	0.200427	T	0.00012	0.0000	N	0.01228	-0.945	0.45914	P	0.0012499999999999734	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.37619	-0.9698	9	0.05620	T	0.96	.	7.0272	0.24946	0.0:0.3174:0.1172:0.5655	rs34409118	131;131;141	Q8WVF1-4;Q8WVF1-3;Q8WVF1	.;.;OSCP1_HUMAN	A	131;141;86;101;141;131	ENSP00000235532:T131A;ENSP00000349052:T141A;ENSP00000390820:T86A;ENSP00000396417:T101A;ENSP00000314541:T141A;ENSP00000346216:T131A	ENSP00000235532:T131A	T	-	1	0	OSCP1	36670654	0.980000	0.34600	0.993000	0.49108	0.462000	0.32619	0.340000	0.19892	-0.153000	0.11137	0.533000	0.62120	ACC		0.502	OSCP1-010	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000389759.1	NM_145047		6	88	0	0	0	1	0	6	88					C	36898067	T	C	36898067	3	2	490	1	0	0	0	0	1	0	0	0	11286	1725	60	3	940	3	OSCP1	1	36898067	Missense_Mutation	SNP	T	TCGA-L6-A4ET-01A-11D-A257-08	25648151	36898067	212352554	2	9981											
KYNU	8942	broad.mit.edu	37	chr2	143790821	143790821	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagaactgcagttaatcccTggggtctgtggattccgaat	11	9	2	1			TCGA-L6-A4ET-01A-11D-A257-08	TCGA-L6-A4ET-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546b97b0-ab82-42a1-bbd2-241523278ec3	ea509942-fcac-486f-ac3d-37457bab29db	g.chr2:143790821T>G	ENST00000264170.4	+	12	1230	c.972T>G	c.(970-972)ccT>ccG	p.P324P	KYNU_ENST00000409512.1_Silent_p.P324P	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		AGTTAATCCCTGGGGTCTGTG	0.378																																						ENST00000264170.4																			0				large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36						c.(970-972)ccT>ccG		kynureninase	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						268	264	265					2																	143790821		2203	4300	6503	SO:0001819	synonymous_variant	8942				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	g.chr2:143790821T>G	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"L-kynurenine hydrolase"	605197	"kynureninase (L-kynurenine hydrolase)"			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.972T>G	2.37:g.143790821T>G						KYNU_ENST00000409512.1_Silent_p.P324P	p.P324P	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	12	1230	+			324						Silent	SNP	ENST00000264170.4	37	c.972T>G	CCDS2183.1																																																																																				0.378	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998		54	97	0	0	0	1	0	54	97					G	143790821	T	G	143790821	2	3	490	1	0	0	0	0	0	0	0	1	8587	1567	55	5		5	KYNU	2	143790821	Silent	SNP	T	TCGA-L6-A4ET-01A-11D-A257-08		143790821	99408552	3	9982											
ZFYVE20	64145	broad.mit.edu	37	chr3	15124046	15124046	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgcctcggcgggagccatggAcactgttgggtgactggctg	17	10	0	1			TCGA-L6-A4ET-01A-11D-A257-08	TCGA-L6-A4ET-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546b97b0-ab82-42a1-bbd2-241523278ec3	ea509942-fcac-486f-ac3d-37457bab29db	g.chr3:15124046A>T	ENST00000253699.3	-	9	1281	c.668T>A	c.(667-669)gTc>gAc	p.V223D	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.V223D|ZFYVE20_ENST00000435849.3_Intron|ZFYVE20_ENST00000449964.2_Intron	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	223	Necessary for the correct targeting to endosomes.|Ser-rich.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GGAGCCATGGACACTGTTGGG	0.592																																						ENST00000253699.3																			0				NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						c.(667-669)gTc>gAc		zinc finger, FYVE domain containing 20							124	90	101					3																	15124046		2203	4300	6503	SO:0001583	missense	64145				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chr3:15124046A>T	AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"Zinc fingers, FYVE domain containing"	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.668T>A	3.37:g.15124046A>T	ENSP00000253699:p.Val223Asp					ZFYVE20_ENST00000476527.2_Missense_Mutation_p.V223D|ZFYVE20_ENST00000435849.3_Intron|ZFYVE20_ENST00000449964.2_Intron	p.V223D	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN			9	1281	-			223			Necessary for the correct targeting to endosomes.|Ser-rich.		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	ENST00000253699.3	37	c.668T>A	CCDS2623.1	.	.	.	.	.	.	.	.	.	.	A	17.95	3.514854	0.64634	.	.	ENSG00000131381	ENST00000253699;ENST00000476527	T;T	0.55930	0.49;0.49	5.79	5.79	0.91817	Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.314434	0.34046	N	0.004308	T	0.32164	0.0820	N	0.03608	-0.345	0.80722	D	1	P	0.47484	0.896	P	0.45377	0.478	T	0.21211	-1.0252	10	0.27785	T	0.31	-16.7052	10.4658	0.44607	0.9277:0.0:0.0723:0.0	.	223	Q9H1K0	RBNS5_HUMAN	D	223	ENSP00000253699:V223D;ENSP00000422551:V223D	ENSP00000253699:V223D	V	-	2	0	ZFYVE20	15099050	0.998000	0.40836	0.986000	0.45419	0.982000	0.71751	3.343000	0.52167	2.205000	0.71048	0.477000	0.44152	GTC		0.592	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340		5	57	0	0	0	1	0	5	57					T	15124046	A	T	15124046	3	4	490	1	0	0	0	0	1	0	0	0	17663	275	10	5	1710	5	ZFYVE20	3	15124046	Missense_Mutation	SNP	A	TCGA-L6-A4ET-01A-11D-A257-08		15124046	182898384	4	9983											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-L6-A4ET-01A-11D-A257-08	TCGA-L6-A4ET-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546b97b0-ab82-42a1-bbd2-241523278ec3	ea509942-fcac-486f-ac3d-37457bab29db	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		26	32	0	0	0	1	0	26	32					T	140453136	A	T	140453136	3	4	490	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-L6-A4ET-01A-11D-A257-08		140453136	18685527	5	9984											
PDSS1	23590	broad.mit.edu	37	chr10	27035361	27035361	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catccccagaaagagatgccCtcattcagctttcagaaatt	6	12	3	3			TCGA-L6-A4ET-01A-11D-A257-08	TCGA-L6-A4ET-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546b97b0-ab82-42a1-bbd2-241523278ec3	ea509942-fcac-486f-ac3d-37457bab29db	g.chr10:27035361C>A	ENST00000376215.5	+	12	1260	c.1207C>A	c.(1207-1209)Ctc>Atc	p.L403I	PDSS1_ENST00000376203.5_3'UTR|PDSS1_ENST00000470978.1_3'UTR	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	403					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						AAGAGATGCCCTCATTCAGCT	0.433																																						ENST00000376215.5																			0				autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						c.(1207-1209)Ctc>Atc		prenyl (decaprenyl) diphosphate synthase, subunit 1							116	99	105					10																	27035361		2203	4300	6503	SO:0001583	missense	23590				isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity	g.chr10:27035361C>A	AF118395	CCDS31168.1	10p12.2	2006-04-12	2006-02-14	2006-02-14	ENSG00000148459	ENSG00000148459			17759	protein-coding gene	gene with protein product	"coenzyme Q1 homolog (yeast)"	607429	"trans-prenyltransferase"	TPRT		10972372	Standard	NM_014317		Approved	TPT, COQ1	uc001isv.3	Q5T2R2	OTTHUMG00000017844	ENST00000376215.5:c.1207C>A	10.37:g.27035361C>A	ENSP00000365388:p.Leu403Ile					PDSS1_ENST00000470978.1_3'UTR|PDSS1_ENST00000376203.5_3'UTR	p.L403I	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN			12	1260	+			403					Q53F75|Q6P473|Q86WQ8|Q9Y2W5	Missense_Mutation	SNP	ENST00000376215.5	37	c.1207C>A	CCDS31168.1	.	.	.	.	.	.	.	.	.	.	C	32	5.187057	0.94923	.	.	ENSG00000148459	ENST00000376215;ENST00000396343	T	0.80566	-1.39	5.54	5.54	0.83059	Terpenoid synthase (2);	0.000000	0.85682	D	0.000000	D	0.92877	0.7734	H	0.95539	3.685	0.80722	D	1	D;D	0.61697	0.987;0.99	D;P	0.66979	0.948;0.831	D	0.94325	0.7557	10	0.62326	D	0.03	-24.5046	19.4716	0.94965	0.0:1.0:0.0:0.0	.	141;403	B4DJY1;Q5T2R2	.;DPS1_HUMAN	I	403;364	ENSP00000365388:L403I	ENSP00000365388:L403I	L	+	1	0	PDSS1	27075367	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.629000	0.83207	2.585000	0.87301	0.655000	0.94253	CTC		0.433	PDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047276.1			20	40	1	0	7.45023e-12	1	8.1076e-12	20	40					A	27035361	C	A	27035361	3	1	490	1	0	0	0	0	1	0	0	0	11693	681	24	4	1253	4	PDSS1	10	27035361	Missense_Mutation	SNP	C	TCGA-L6-A4ET-01A-11D-A257-08		27035361	108499386	6	9985											
UBE4A	9354	broad.mit.edu	37	chr11	118240215	118240215	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aaatggcagtagagctagaaGatcaagactggcttgatatg	12	5	1	5			TCGA-L6-A4ET-01A-11D-A257-08	TCGA-L6-A4ET-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546b97b0-ab82-42a1-bbd2-241523278ec3	ea509942-fcac-486f-ac3d-37457bab29db	g.chr11:118240215G>C	ENST00000431736.2	+	4	445	c.373G>C	c.(373-375)Gat>Cat	p.D125H	UBE4A_ENST00000252108.3_Missense_Mutation_p.D125H					ubiquitination factor E4A											autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AGAGCTAGAAGATCAAGACTG	0.428																																						ENST00000252108.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56						c.(373-375)Gat>Cat		ubiquitination factor E4A							155	143	147					11																	118240215		2200	4296	6496	SO:0001583	missense	9354				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	g.chr11:118240215G>C	D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"U-box domain containing"	12499	protein-coding gene	gene with protein product		603753	"ubiquitination factor E4A (homologous to yeast UFD2)", "ubiquitination factor E4A (UFD2 homolog, yeast)"			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.373G>C	11.37:g.118240215G>C	ENSP00000387362:p.Asp125His					UBE4A_ENST00000431736.2_Missense_Mutation_p.D125H	p.D125H	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	4	504	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	125						Missense_Mutation	SNP	ENST00000431736.2	37	c.373G>C	CCDS8396.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056451	0.76074	.	.	ENSG00000110344	ENST00000252108;ENST00000431736	T;T	0.43294	0.95;0.95	5.95	5.95	0.96441	.	0.098369	0.64402	D	0.000002	T	0.43831	0.1265	L	0.27053	0.805	0.80722	D	1	B;P	0.36315	0.412;0.547	B;B	0.44224	0.172;0.444	T	0.31641	-0.9936	10	0.54805	T	0.06	-12.6995	20.3931	0.98965	0.0:0.0:1.0:0.0	.	125;125	Q14139;Q14139-2	UBE4A_HUMAN;.	H	125	ENSP00000252108:D125H;ENSP00000387362:D125H	ENSP00000252108:D125H	D	+	1	0	UBE4A	117745425	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.144000	0.94629	2.824000	0.97209	0.655000	0.94253	GAT		0.428	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788		5	42	0	0	0	1	0	5	42					C	118240215	G	C	118240215	3	2	490	1	0	0	0	0	1	0	0	0	16879	942	33	4	383	4	UBE4A	11	118240215	Missense_Mutation	SNP	G	TCGA-L6-A4ET-01A-11D-A257-08		118240215	16766301	7	9986											
KRT80	144501	broad.mit.edu	37	chr12	52567461	52567461	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggccttcacctcctccaCgatgccgctcaggtcgatgt	10	16	2	0			TCGA-L6-A4ET-01A-11D-A257-08	TCGA-L6-A4ET-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546b97b0-ab82-42a1-bbd2-241523278ec3	ea509942-fcac-486f-ac3d-37457bab29db	g.chr12:52567461C>T	ENST00000394815.2	-	5	851	c.754G>A	c.(754-756)Gtg>Atg	p.V252M	KRT80_ENST00000313234.5_Missense_Mutation_p.V252M	NM_182507.2	NP_872313.2	Q6KB66	K2C80_HUMAN	keratin 80	252	Coil 2.|Rod.					cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		ACCTCCTCCACGATGCCGCTC	0.662																																					GBM(178;2309 2916 15678 35873)	ENST00000313234.5																			0				endometrium(2)|large_intestine(2)|lung(1)	5						c.(754-756)Gtg>Atg		keratin 80							87	75	79					12																	52567461		2203	4300	6503	SO:0001583	missense	144501					keratin filament	structural molecule activity	g.chr12:52567461C>T	BX537567	CCDS8821.2, CCDS41784.1	12q13.13	2013-01-16			ENSG00000167767	ENSG00000167767		"-", "Intermediate filaments type II, keratins (basic)"	27056	protein-coding gene	gene with protein product		611161				16831889	Standard	NM_001081492		Approved	KB20	uc001rzx.3	Q6KB66	OTTHUMG00000150193	ENST00000394815.2:c.754G>A	12.37:g.52567461C>T	ENSP00000378292:p.Val252Met					KRT80_ENST00000394815.2_Missense_Mutation_p.V252M	p.V252M	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.108)	5	851	-			252			Coil 2.|Rod.		Q6P1A5|Q7Z3Q0	Missense_Mutation	SNP	ENST00000394815.2	37	c.754G>A	CCDS8821.2	.	.	.	.	.	.	.	.	.	.	C	19.48	3.836327	0.71373	.	.	ENSG00000167767	ENST00000313234;ENST00000394815	D;D	0.89343	-2.5;-2.5	4.23	3.34	0.38264	Filament (1);	0.000000	0.34435	N	0.003969	T	0.74650	0.3744	N	0.08118	0	0.36658	D	0.87777	P;P;P	0.48350	0.889;0.909;0.889	B;B;B	0.38842	0.186;0.283;0.186	T	0.79722	-0.1684	10	0.87932	D	0	.	8.5867	0.33662	0.0:0.7537:0.0:0.2463	.	252;252;287	Q6KB66-2;Q6KB66;Q6KB66-3	.;K2C80_HUMAN;.	M	252	ENSP00000369361:V252M;ENSP00000378292:V252M	ENSP00000369361:V252M	V	-	1	0	KRT80	50853728	0.998000	0.40836	1.000000	0.80357	0.976000	0.68499	0.893000	0.28336	1.152000	0.42452	0.561000	0.74099	GTG		0.662	KRT80-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316757.1	NM_182507		5	73	0	0	0	1	0	5	73					T	52567461	C	T	52567461	3	4	490	1	0	0	0	0	1	0	0	0	8494	536	19	1	659	1	KRT80	12	52567461	Missense_Mutation	SNP	C	TCGA-L6-A4ET-01A-11D-A257-08		52567461	81284434	8	9987											
PCK2	5106	broad.mit.edu	37	chr14	24569430	24569430	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggaaacctggtatgtgCggtggggaaggtgtggcaca	17	8	0	0	rs541317046		TCGA-L6-A4ET-01A-11D-A257-08	TCGA-L6-A4ET-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546b97b0-ab82-42a1-bbd2-241523278ec3	ea509942-fcac-486f-ac3d-37457bab29db	g.chr14:24569430C>T	ENST00000216780.4	+	7	1502				PCK2_ENST00000559250.1_Intron|PCK2_ENST00000558096.1_Intron|NRL_ENST00000561028.1_Intron|PCK2_ENST00000545054.2_Intron|PCK2_ENST00000396973.4_Silent_p.C414C|PCK2_ENST00000561286.1_Intron	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)						carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		CTGGTATGTGCGGTGGGGAAG	0.577													C|||	1	0.000199681	8e-04	0	5008	,	,		19698	0		0	False		,,,				2504	0					ENST00000396973.4																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18						c.(1240-1242)tgC>tgT		phosphoenolpyruvate carboxykinase 2 (mitochondrial)							109	73	85					14																	24569430		2203	4300	6503	SO:0001627	intron_variant	5106				gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr14:24569430C>T	AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.1234+8C>T	14.37:g.24569430C>T						PCK2_ENST00000216780.4_Intron|PCK2_ENST00000545054.2_Intron|PCK2_ENST00000559250.1_Intron|PCK2_ENST00000561286.1_Intron|PCK2_ENST00000558096.1_Intron|NRL_ENST00000561028.1_Intron	p.C414C	NM_001018073.1	NP_001018083.1	Q16822	PCKGM_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	7	1489	+			0					O43253|Q86U01|Q9BV62	Silent	SNP	ENST00000216780.4	37	c.1242C>T	CCDS9609.1																																																																																				0.577	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	NM_001018073		5	44	0	0	0	1	0	5	44					T	24569430	C	T	24569430	1	4	490	0	1	0	0	0	0	0	0	0	11582	776	27	1		1	PCK2	14	24569430	Intron	SNP	C	TCGA-L6-A4ET-01A-11D-A257-08		24569430	82780110	9	9988											
PAQR4	124222	broad.mit.edu	37	chr16	3019765	3019765	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgtgctgaccgggtaccgGcccgccagcagcggctcggg	16	15	0	1			TCGA-L6-A4ET-01A-11D-A257-08	TCGA-L6-A4ET-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546b97b0-ab82-42a1-bbd2-241523278ec3	ea509942-fcac-486f-ac3d-37457bab29db	g.chr16:3019765G>A	ENST00000318782.8	+	1	520	c.90G>A	c.(88-90)cgG>cgA	p.R30R	PAQR4_ENST00000572687.1_Silent_p.R30R|PAQR4_ENST00000574988.1_5'Flank|PAQR4_ENST00000576565.1_Intron|PAQR4_ENST00000293978.8_Silent_p.R30R|PKMYT1_ENST00000431515.2_Intron|PKMYT1_ENST00000571102.1_Intron	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	30						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						CCGGGTACCGGCCCGCCAGCA	0.692																																						ENST00000318782.8																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(88-90)cgG>cgA		progestin and adipoQ receptor family member IV							11	13	13					16																	3019765		2046	4072	6118	SO:0001819	synonymous_variant	124222					integral to membrane	receptor activity	g.chr16:3019765G>A		CCDS10485.1, CCDS66911.1, CCDS66912.1, CCDS73814.1	16p13	2008-05-02			ENSG00000162073	ENSG00000162073			26386	protein-coding gene	gene with protein product		614578				12477932	Standard	XM_005255112		Approved	FLJ30002	uc002csj.4	Q8N4S7	OTTHUMG00000128977	ENST00000318782.8:c.90G>A	16.37:g.3019765G>A						PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000293978.8_Silent_p.R30R|PAQR4_ENST00000572687.1_Silent_p.R30R|PKMYT1_ENST00000571102.1_Intron|PAQR4_ENST00000576565.1_Intron	p.R30R	NM_152341.3	NP_689554.2	Q8N4S7	PAQR4_HUMAN			1	520	+			30					A8K5Q8|D3DUA2|D3DUA3|Q8NAS6|Q96NW1	Silent	SNP	ENST00000318782.8	37	c.90G>A	CCDS10485.1																																																																																				0.692	PAQR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250966.1	NM_152341		10	22	0	0	0	1	0	10	22					A	3019765	G	A	3019765	2	1	490	1	0	0	0	0	0	0	0	1	11437	1190	42	2		2	PAQR4	16	3019765	Silent	SNP	G	TCGA-L6-A4ET-01A-11D-A257-08		3019765	87334988	10	9989											
SMCHD1	23347	broad.mit.edu	37	chr18	2728543	2728543	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatttcaggtggaagttttAgatgaatcagacaacataac	8	7	2	3			TCGA-L6-A4ET-01A-11D-A257-08	TCGA-L6-A4ET-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546b97b0-ab82-42a1-bbd2-241523278ec3	ea509942-fcac-486f-ac3d-37457bab29db	g.chr18:2728543A>G	ENST00000320876.6	+	23	3200	c.2862A>G	c.(2860-2862)ttA>ttG	p.L954L	SMCHD1_ENST00000609587.1_3'UTR|RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Silent_p.L954L	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	954					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TGGAAGTTTTAGATGAATCAG	0.358																																						ENST00000320876.6																			0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.(2860-2862)ttA>ttG		structural maintenance of chromosomes flexible hinge domain containing 1							104	98	100					18																	2728543		1847	4093	5940	SO:0001819	synonymous_variant	23347				chromosome organization		ATP binding	g.chr18:2728543A>G	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.2862A>G	18.37:g.2728543A>G						RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Silent_p.L954L	p.L954L	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN			23	3200	+			954					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Silent	SNP	ENST00000320876.6	37	c.2862A>G	CCDS45822.1																																																																																				0.358	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			21	27	0	0	0	1	0	21	27					G	2728543	A	G	2728543	2	3	490	1	0	0	0	0	0	0	0	1	14788	417	15	3		3	SMCHD1	18	2728543	Silent	SNP	A	TCGA-L6-A4ET-01A-11D-A257-08		2728543	75348705	11	9990											
DNALI1	79753	broad.mit.edu	37	chr1	38022591	38022591	+	5'Flank	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgggttgctactctcgcctCcgccatgattccgcccgcag	10	17	1	1			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr1:38022591C>T	ENST00000296215.6	-	0	0				SNIP1_ENST00000468040.1_5'Flank|DNALI1_ENST00000296218.7_Missense_Mutation_p.S21F|DNALI1_ENST00000541606.1_5'Flank	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				ACTCTCGCCTCCGCCATGATT	0.637																																						ENST00000296218.7																			0				breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5						c.(61-63)tCc>tTc		dynein, axonemal, light intermediate chain 1							67	61	63					1																	38022591		2203	4300	6503	SO:0001631	upstream_gene_variant	7802				cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity	g.chr1:38022591C>T		CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225		1.37:g.38022591C>T	Exception_encountered						p.S21F	NM_003462.3	NP_003453.2	O14645	IDLC_HUMAN			1	72	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	0					Q96SP9|Q9H9T7	Missense_Mutation	SNP	ENST00000296215.6	37	c.62C>T	CCDS419.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.812216	0.32053	.	.	ENSG00000163879	ENST00000296218	T	0.45276	0.9	5.07	-0.509	0.11977	.	0.985526	0.08258	N	0.973513	T	0.42154	0.1190	.	.	.	0.34660	D	0.722627	.	.	.	.	.	.	T	0.54463	-0.8290	7	0.59425	D	0.04	-0.4939	5.1608	0.15060	0.0:0.4733:0.2797:0.2469	.	.	.	.	F	21	ENSP00000296218:S21F	ENSP00000296218:S21F	S	+	2	0	DNALI1	37795178	0.401000	0.25303	0.096000	0.21009	0.039000	0.13416	0.195000	0.17155	0.012000	0.14892	0.491000	0.48974	TCC		0.637	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012169.2	NM_024700		6	58	0	0	0	1	0	6	58					T	38022591	C	T	38022591	1	4	491	0	1	0	0	0	0	0	0	0	4659	855	30	2		2	DNALI1	1	38022591	5'Flank	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08		38022591	211228030	1	9991											
MACF1	23499	broad.mit.edu	37	chr1	39799522	39799522	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaaacgaggcaaaaaagtttCagtaactttggcctcaactc	8	9	2	0			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr1:39799522C>T	ENST00000372915.3	+	36	7364	c.7277C>T	c.(7276-7278)tCa>tTa	p.S2426L	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.S861L|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.S2458L|MACF1_ENST00000564288.1_Missense_Mutation_p.S2421L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2426					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAAAAAGTTTCAGTAACTTTG	0.433																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(7261-7263)tCa>tTa		microtubule-actin crosslinking factor 1							61	62	62					1																	39799522		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39799522C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.7277C>T	1.37:g.39799522C>T	ENSP00000362006:p.Ser2426Leu					MACF1_ENST00000372915.3_Missense_Mutation_p.S2426L|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.S2458L|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.S861L|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron	p.S2421L			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	8039	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2426					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.7262C>T		.	.	.	.	.	.	.	.	.	.	C	17.21	3.332729	0.60853	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.80480	-1.38;-1.38	5.47	5.47	0.80525	.	0.138084	0.33591	N	0.004759	D	0.90954	0.7156	M	0.84948	2.725	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.91930	0.5554	10	0.72032	D	0.01	.	19.3222	0.94246	0.0:1.0:0.0:0.0	.	2426	Q9UPN3	MACF1_HUMAN	L	2426;861	ENSP00000362006:S2426L;ENSP00000289893:S861L	ENSP00000289893:S861L	S	+	2	0	MACF1	39572109	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.601000	0.82783	2.560000	0.86352	0.561000	0.74099	TCA		0.433	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		5	87	0	0	0	1	0	5	87					T	39799522	C	T	39799522	3	4	491	1	0	0	0	0	1	0	0	0	9144	838	29	2	7353	2	MACF1	1	39799522	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	1776931	39799522	209451099	2	9992											
TRIT1	54802	broad.mit.edu	37	chr1	40318540	40318540	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atcactttctcagtgcccatCtcctggggctattaaatgat	7	11	3	1			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr1:40318540C>A	ENST00000316891.5	-	4	437	c.423G>T	c.(421-423)gaG>gaT	p.E141D	TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000372818.1_Missense_Mutation_p.E141D|TRIT1_ENST00000545233.1_Intron|TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000544981.1_Intron|TRIT1_ENST00000441669.2_Missense_Mutation_p.E61D	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	141					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|tRNA dimethylallyltransferase activity (GO:0052381)			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CAGTGCCCATCTCCTGGGGCT	0.443																																						ENST00000316891.5																			0				breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15						c.(421-423)gaG>gaT		tRNA isopentenyltransferase 1							178	169	172					1																	40318540		2203	4300	6503	SO:0001583	missense	54802				tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity	g.chr1:40318540C>A	AF074918	CCDS30681.1	1p34.2	2012-10-05			ENSG00000043514	ENSG00000043514	2.5.1.8		20286	protein-coding gene	gene with protein product						11111046, 15870694	Standard	NM_017646		Approved	FLJ20061, IPT	uc021olz.1	Q9H3H1	OTTHUMG00000009245	ENST00000316891.5:c.423G>T	1.37:g.40318540C>A	ENSP00000321810:p.Glu141Asp					TRIT1_ENST00000545233.1_Intron|TRIT1_ENST00000441669.2_Missense_Mutation_p.E61D|TRIT1_ENST00000544981.1_Intron|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000372818.1_Missense_Mutation_p.E141D|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000537223.1_Intron	p.E141D	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		4	437	-	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	141					A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	Missense_Mutation	SNP	ENST00000316891.5	37	c.423G>T	CCDS30681.1	.	.	.	.	.	.	.	.	.	.	C	7.495	0.651395	0.14516	.	.	ENSG00000043514	ENST00000046894;ENST00000372825;ENST00000441669;ENST00000316891;ENST00000372818	T;T	0.38887	1.11;1.11	3.99	1.06	0.20224	.	1.316600	0.04531	N	0.386296	T	0.16896	0.0406	N	0.01824	-0.7	0.44162	D	0.996969	B;B	0.32467	0.002;0.372	B;B	0.26864	0.011;0.074	T	0.12268	-1.0554	10	0.15952	T	0.53	-0.9852	8.0389	0.30511	0.0:0.7273:0.0:0.2727	.	141;61	Q9H3H1;Q9H3H1-5	MOD5_HUMAN;.	D	141;61;55;141;141	ENSP00000321810:E141D;ENSP00000361905:E141D	ENSP00000046894:E141D	E	-	3	2	TRIT1	40091127	0.468000	0.25839	0.124000	0.21820	0.529000	0.34654	0.673000	0.25203	0.244000	0.21351	0.467000	0.42956	GAG		0.443	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025627.2	NM_017646		7	153	1	0	0.0293803	1	0.0296524	7	153					A	40318540	C	A	40318540	3	1	491	1	0	0	0	0	1	0	0	0	16557	912	32	4	1012	4	TRIT1	1	40318540	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	519018	40318540	208932081	3	9993											
CACNA1E	777	broad.mit.edu	37	chr1	181767468	181767468	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gagctccatcccctctgtctCtgacaccagcaccccaagaa	6	18	2	2			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr1:181767468C>G	ENST00000367573.2	+	48	6440	c.6440C>G	c.(6439-6441)tCt>tGt	p.S2147C	CACNA1E_ENST00000526775.1_Missense_Mutation_p.S2085C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.S1711C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.S2128C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.S2098C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S2104C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.S2036C	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2147					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)			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						CCCTCTGTCTCTGACACCAGC	0.592																																						ENST00000526775.1																			0				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.(6253-6255)tCt>tGt		calcium channel, voltage-dependent, R type, alpha 1E subunit							124	134	131					1																	181767468		2024	4177	6201	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181767468C>G	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.6440C>G	1.37:g.181767468C>G	ENSP00000356545:p.Ser2147Cys					CACNA1E_ENST00000360108.3_Missense_Mutation_p.S2128C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.S2036C|CACNA1E_ENST00000367573.2_Missense_Mutation_p.S2147C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.S1711C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.S2098C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S2104C	p.S2085C	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			46	6419	+			2147					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.6254C>G	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643482	0.87859	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.99369	-5.6;-5.58;-4.93;-5.57;-5.78;-4.93;-4.93	5.59	5.59	0.84812	.	0.057749	0.64402	D	0.000001	D	0.99299	0.9755	M	0.67700	2.07	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74348	0.983;0.935	D	0.99821	1.1047	10	0.87932	D	0	.	19.2073	0.93736	0.0:1.0:0.0:0.0	.	2085;2104	Q15878-2;Q15878-3	.;.	C	2104;2085;2098;2036;1711;2128;2147	ENSP00000356542:S2104C;ENSP00000434814:S2085C;ENSP00000350183:S2098C;ENSP00000351101:S2036C;ENSP00000356539:S1711C;ENSP00000353222:S2128C;ENSP00000356545:S2147C	ENSP00000350183:S2098C	S	+	2	0	CACNA1E	180034091	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.148000	0.77389	2.622000	0.88805	0.563000	0.77884	TCT		0.592	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		13	182	0	0	0	1	0	13	182					G	181767468	C	G	181767468	3	3	491	1	0	0	0	0	1	0	0	0	2542	913	32	4	6497	4	CACNA1E	1	181767468	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	141448928	181767468	67483153	4	9994											
FAM36A	116228	broad.mit.edu	37	chr1	245006477	245006477	+	Nonstop_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	caacggcagcagcagcaattGaacaatcttgagcatagaag	10	9	1	3			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr1:245006477G>C	ENST00000411948.2	+	4	749	c.356G>C	c.(355-357)tGa>tCa	p.*119S	HNRNPU-AS1_ENST00000489705.1_RNA|COX20_ENST00000498262.1_3'UTR|HNRNPU-AS1_ENST00000475997.1_RNA|COX20_ENST00000366528.3_Nonstop_Mutation_p.*131S	NM_198076.4	NP_932342.1	Q5RI15	COX20_HUMAN	COX20 cytochrome C oxidase assembly factor	0						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)											AGCAGCAATTGAACAATCTTG	0.348																																						ENST00000411948.2																			0											c.(355-357)tGa>tCa		COX20 cytochrome C oxidase assembly factor							50	66	61					1																	245006477		2198	4299	6497	SO:0001578	stop_lost	116228					integral to membrane		g.chr1:245006477G>C	BC062419	CCDS31080.1	1q44	2013-05-24	2013-05-23	2012-02-24	ENSG00000203667	ENSG00000203667		"Mitochondrial respiratory chain complex assembly factors"	26970	protein-coding gene	gene with protein product		614698	"family with sequence similarity 36, member A", "COX20 Cox2 chaperone homolog (S. cerevisiae)"	FAM36A		22356826, 23125284	Standard	NM_198076		Approved	FLJ43269	uc001iar.3	Q5RI15	OTTHUMG00000040401	ENST00000411948.2:c.356G>C	1.37:g.245006477G>C	ENSP00000406327:p.*119Serext*29					COX20_ENST00000498262.1_3'UTR|COX20_ENST00000366528.3_Nonstop_Mutation_p.*131S	p.*119S	NM_198076.4	NP_932342.1	Q5RI15	FA36A_HUMAN			4	749	+			0					Q8WV86	Nonstop_Mutation	SNP	ENST00000411948.2	37	c.356G>C	CCDS31080.1	.	.	.	.	.	.	.	.	.	.	G	4.619	0.115140	0.08831	.	.	ENSG00000203667	ENST00000411948;ENST00000366528	.	.	.	4.24	-3.53	0.04667	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.223	0.43209	0.6457:0.0:0.3543:0.0	.	.	.	.	S	119;131	.	.	X	+	2	2	FAM36A	243073100	0.053000	0.20554	0.000000	0.03702	0.106000	0.19336	0.039000	0.13884	-0.756000	0.04703	-0.262000	0.10625	TGA		0.348	COX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097174.1	NM_198076		4	68	0	0	0	1	0	4	68					C	245006477	G	C	245006477	4	2	491	1	0	0	0	0	0	0	0	0	5554	1285	45	4	370	4	FAM36A	1	245006477	Nonstop_Mutation	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08	63239009	245006477	4244144	5	9995											
DPYSL5	56896	broad.mit.edu	37	chr2	27165613	27165613	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acaagaagctggtccagagaGagaaggtgaggtgggaggag	19	4	0	4			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr2:27165613G>C	ENST00000288699.6	+	11	1593	c.1435G>C	c.(1435-1437)Gag>Cag	p.E479Q	DPYSL5_ENST00000401478.1_Missense_Mutation_p.E479Q	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	479					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTCCAGAGAGAGAAGGTGAG	0.562											OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000288699.6																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(1435-1437)Gag>Cag		dihydropyrimidinase-like 5							42	41	42					2																	27165613		2203	4300	6503	SO:0001583	missense	56896				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr2:27165613G>C	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.1435G>C	2.37:g.27165613G>C	ENSP00000288699:p.Glu479Gln		OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	792	DPYSL5_ENST00000401478.1_Missense_Mutation_p.E479Q	p.E479Q	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN			11	1593	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		479					Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	ENST00000288699.6	37	c.1435G>C	CCDS1730.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.189773	0.78789	.	.	ENSG00000157851	ENST00000288699;ENST00000401478	D;D	0.86164	-2.08;-2.08	6.08	6.08	0.98989	Metal-dependent hydrolase, composite domain (1);	0.148703	0.64402	D	0.000015	D	0.87613	0.6221	L	0.59436	1.845	0.53688	D	0.999979	P	0.43885	0.82	B	0.43867	0.434	D	0.85746	0.1340	10	0.34782	T	0.22	-35.3913	19.4349	0.94788	0.0:0.0:1.0:0.0	.	479	Q9BPU6	DPYL5_HUMAN	Q	479	ENSP00000288699:E479Q;ENSP00000385549:E479Q	ENSP00000288699:E479Q	E	+	1	0	DPYSL5	27019117	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.456000	0.80751	2.894000	0.99253	0.655000	0.94253	GAG		0.562	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134		22	48	0	0	0	1	0	22	48					C	27165613	G	C	27165613	3	2	491	1	0	0	0	0	1	0	0	0	4750	943	33	4	1473	4	DPYSL5	2	27165613	Missense_Mutation	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08		27165613	216033760	6	9996											
EIF2B4	8890	broad.mit.edu	37	chr2	27590021	27590021	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcctgagctgctagcacaatCttctcttgcacataccgatc	7	14	2	1			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr2:27590021C>G	ENST00000347454.4	-	10	1104	c.933G>C	c.(931-933)aaG>aaC	p.K311N	EIF2B4_ENST00000445933.2_Missense_Mutation_p.K310N|AC074117.10_ENST00000412749.1_RNA|EIF2B4_ENST00000451130.2_Missense_Mutation_p.K331N|EIF2B4_ENST00000493344.2_Missense_Mutation_p.K332N	NM_001034116.1|NM_015636.3	NP_001029288.1|NP_056451.3	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	311					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation (GO:0045947)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translation (GO:0006417)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTAGCACAATCTTCTCTTGCA	0.438																																						ENST00000493344.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10						c.(994-996)aaG>aaC		eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa							215	182	193					2																	27590021		2203	4300	6503	SO:0001583	missense	0				myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding	g.chr2:27590021C>G	AJ011306	CCDS33164.1, CCDS46244.1, CCDS46245.1	2p23.3	2008-02-05	2002-08-29		ENSG00000115211	ENSG00000115211			3260	protein-coding gene	gene with protein product		606687	"eukaryotic translation initiation factor 2B, subunit 4 (delta, 67kD)"			8929216, 7982969	Standard	NM_172195		Approved	EIF2Bdelta, EIF-2B, DKFZP586J0119, EIF2B	uc002rjz.3	Q9UI10	OTTHUMG00000151927	ENST00000347454.4:c.933G>C	2.37:g.27590021C>G	ENSP00000233552:p.Lys311Asn					EIF2B4_ENST00000347454.4_Missense_Mutation_p.K311N|AC074117.10_ENST00000412749.1_RNA|EIF2B4_ENST00000451130.2_Missense_Mutation_p.K331N|EIF2B4_ENST00000445933.2_Missense_Mutation_p.K310N	p.K332N			Q9UI10	EI2BD_HUMAN			9	1308	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		311					Q53RY7|Q5BJF4|Q9BUV9|Q9UBG4|Q9UIQ9|Q9UJ95	Missense_Mutation	SNP	ENST00000347454.4	37	c.996G>C	CCDS33164.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.393369	0.83011	.	.	ENSG00000115211	ENST00000347454;ENST00000414437;ENST00000445933;ENST00000451130;ENST00000493344	D;D;D;D	0.85629	-2.0;-1.99;-1.99;-2.01	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.85159	0.5633	L	0.52905	1.665	0.80722	D	1	P;P;B;B	0.36222	0.544;0.544;0.417;0.198	B;B;B;B	0.40009	0.316;0.17;0.261;0.108	T	0.82880	-0.0238	10	0.36615	T	0.2	-22.8401	18.9918	0.92796	0.0:1.0:0.0:0.0	.	308;310;311;331	F5H6W1;Q9UI10-3;Q9UI10;Q9UI10-2	.;.;EI2BD_HUMAN;.	N	311;308;310;331;332	ENSP00000233552:K311N;ENSP00000394397:K310N;ENSP00000394869:K331N;ENSP00000429323:K332N	ENSP00000233552:K311N	K	-	3	2	EIF2B4	27443525	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	4.596000	0.61055	2.837000	0.97791	0.655000	0.94253	AAG		0.438	EIF2B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324448.1			5	107	0	0	0	1	0	5	107					G	27590021	C	G	27590021	3	3	491	1	0	0	0	0	1	0	0	0	5003	912	32	4	654	4	EIF2B4	2	27590021	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	424408	27590021	215609352	7	9997											
LRPPRC	10128	broad.mit.edu	37	chr2	44174896	44174896	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaagtctaaattcttactctCaaccaacaagtgagcatcct	4	11	3	1			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr2:44174896C>G	ENST00000260665.7	-	19	1996	c.1939G>C	c.(1939-1941)Gag>Cag	p.E647Q		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	647					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)				TTCTTACTCTCAACCAACAAG	0.294																																						ENST00000260665.7																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41						c.(1939-1941)Gag>Cag		leucine-rich pentatricopeptide repeat containing							63	64	64					2																	44174896		2203	4288	6491	SO:0001583	missense	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.chr2:44174896C>G	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.1939G>C	2.37:g.44174896C>G	ENSP00000260665:p.Glu647Gln						p.E647Q	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN			19	1996	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	647					A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	37	c.1939G>C	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	C	5.951	0.359495	0.11239	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.56103	0.48	5.38	4.51	0.55191	.	1.061880	0.07303	N	0.874429	T	0.41811	0.1175	L	0.36672	1.1	0.58432	D	0.999999	B;B	0.27559	0.045;0.181	B;B	0.28638	0.007;0.092	T	0.19679	-1.0298	10	0.19147	T	0.46	-8.638	6.0762	0.19917	0.0:0.6771:0.1564:0.1665	.	547;647	F5H4J6;P42704	.;LPPRC_HUMAN	Q	547;647	ENSP00000260665:E647Q	ENSP00000260665:E647Q	E	-	1	0	LRPPRC	44028400	0.103000	0.21917	0.895000	0.35142	0.008000	0.06430	0.342000	0.19926	1.415000	0.47037	0.655000	0.94253	GAG		0.294	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		4	19	0	0	0	1	0	4	19					G	44174896	C	G	44174896	3	3	491	1	0	0	0	0	1	0	0	0	8965	835	29	4	2325	4	LRPPRC	2	44174896	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	16584875	44174896	199024477	8	9998											
C2orf73	129852	broad.mit.edu	37	chr2	54562140	54562141	+	Frame_Shift_Ins	INS	-	-	A													catttccctacatagatcccINSaaaaaagggccagaaataca							TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr2:54562140_54562141insA	ENST00000398634.2	+	2	255_256	c.213_214insA	c.(214-216)aaafs	p.K72fs	C2orf73_ENST00000491538.1_Intron|C2orf73_ENST00000405749.1_Intron	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN	chromosome 2 open reading frame 73	72										breast(2)	2						ACATAGATCCCAAAAAAGGGCC	0.332																																						ENST00000398634.2																			0				breast(2)	2						c.(211-216)ccaaaafs		chromosome 2 open reading frame 73																																				SO:0001589	frameshift_variant	129852							g.chr2:54562140_54562141insA	BC031669, AK097617	CCDS46285.1	2p16.2	2008-07-07			ENSG00000177994	ENSG00000177994			26861	protein-coding gene	gene with protein product						14702039	Standard	NM_001100396		Approved	FLJ40298	uc002rxt.1	Q8N5S3	OTTHUMG00000151826	ENST00000398634.2:c.219dupA	2.37:g.54562146_54562146dupA	ENSP00000381631:p.Lys72fs					C2orf73_ENST00000405749.1_Intron|C2orf73_ENST00000491538.1_Intron	p.PK71fs	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN			2	255_256	+			71					A0AV79|A0AV81|Q8N7V4	Frame_Shift_Ins	INS	ENST00000398634.2	37	c.213_214insA	CCDS46285.1																																																																																				0.332	C2orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324075.2	NM_001100396		2	4						2	4	---	---	---	---	A	54562141	-	A	54562140	7	5	491	1	0	1	1	0	0	0	0	0	2192	581	21	0	219	0	C2orf73	2	54562140	Frame_Shift_Ins	INS	-	TCGA-L6-A4EU-01A-11D-A257-08	10387244	54562140	188637233	9	9999											
ARHGAP15	55843	broad.mit.edu	37	chr2	143986205	143986205	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcgaagaattgaattttacAaagaatccaagcaacaggct	8	7	0	3			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr2:143986205A>G	ENST00000295095.6	+	5	519	c.352A>G	c.(352-354)Aaa>Gaa	p.K118E	ARHGAP15_ENST00000409869.1_Missense_Mutation_p.K118E	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	118	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TGAATTTTACAAAGAATCCAA	0.303																																						ENST00000409869.1																			0				endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34						c.(352-354)Aaa>Gaa		Rho GTPase activating protein 15							83	89	87					2																	143986205		2203	4296	6499	SO:0001583	missense	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:143986205A>G	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.352A>G	2.37:g.143986205A>G	ENSP00000295095:p.Lys118Glu					ARHGAP15_ENST00000295095.6_Missense_Mutation_p.K118E	p.K118E			Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	6	529	+			118			PH.		Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP	ENST00000295095.6	37	c.352A>G	CCDS2184.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.521547	0.85600	.	.	ENSG00000075884	ENST00000409869;ENST00000295095	T;T	0.78003	-1.14;-1.14	5.6	5.6	0.85130	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.89856	0.6836	M	0.90309	3.105	0.53005	D	0.999969	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.91853	0.5493	10	0.87932	D	0	.	14.3603	0.66766	1.0:0.0:0.0:0.0	.	118;118	B4E0R3;Q53QZ3	.;RHG15_HUMAN	E	118	ENSP00000386560:K118E;ENSP00000295095:K118E	ENSP00000295095:K118E	K	+	1	0	ARHGAP15	143702675	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.727000	0.68523	2.123000	0.65237	0.528000	0.53228	AAA		0.303	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		3	19	0	0	0	1	0	3	19					G	143986205	A	G	143986205	3	3	491	1	0	0	0	0	1	0	0	0	866	131	5	3	366	3	ARHGAP15	2	143986205	Missense_Mutation	SNP	A	TCGA-L6-A4EU-01A-11D-A257-08	89424065	143986205	99213168	10	10000											
FSIP2	401024	broad.mit.edu	37	chr2	186672259	186672259	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atgtagaaaccttacaatctGatgatgatgaaattattcaa	6	5	2	5			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr2:186672259G>C	ENST00000424728.1	+	17	18226	c.18226G>C	c.(18226-18228)Gat>Cat	p.D6076H	FSIP2_ENST00000343098.5_Missense_Mutation_p.D6165H			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6076										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CTTACAATCTGATGATGATGA	0.328																																						ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(18493-18495)Gat>Cat		fibrous sheath interacting protein 2							109	107	108					2																	186672259		1823	4073	5896	SO:0001583	missense	401024							g.chr2:186672259G>C	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.18226G>C	2.37:g.186672259G>C	ENSP00000401306:p.Asp6076His					FSIP2_ENST00000424728.1_Missense_Mutation_p.D6076H	p.D6165H	NM_173651.2	NP_775922.2					17	18493	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37	c.18493G>C		.	.	.	.	.	.	.	.	.	.	G	11.47	1.649539	0.29336	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.45668	0.89;0.9	5.26	2.78	0.32641	.	0.543777	0.17945	N	0.156717	T	0.20210	0.0486	N	0.08118	0	0.24227	N	0.995417	.	.	.	.	.	.	T	0.10870	-1.0611	8	0.30078	T	0.28	.	4.9682	0.14102	0.7159:0.185:0.0991:0.0	.	.	.	.	H	6165;6076	ENSP00000344403:D6165H;ENSP00000401306:D6076H	ENSP00000344403:D6165H	D	+	1	0	FSIP2	186380504	0.254000	0.23992	0.993000	0.49108	0.362000	0.29581	1.496000	0.35638	1.026000	0.39733	-0.469000	0.05056	GAT		0.328	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		7	101	0	0	0	1	0	7	101					C	186672259	G	C	186672259	3	2	491	1	0	0	0	0	1	0	0	0	6075	1290	45	4	18559	4	FSIP2	2	186672259	Missense_Mutation	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08	42686054	186672259	56527114	11	10001											
UBP1	7342	broad.mit.edu	37	chr3	33450189	33450189	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaagtcccttacactgcctCgctttgccagagaatcaccg	8	14	1	2			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr3:33450189C>T	ENST00000283629.3	-	8	1449	c.920G>A	c.(919-921)cGa>cAa	p.R307Q	UBP1_ENST00000486388.1_5'UTR|UBP1_ENST00000283628.5_Missense_Mutation_p.R307Q|UBP1_ENST00000447368.2_Intron	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	307					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TACACTGCCTCGCTTTGCCAG	0.448																																						ENST00000283629.3																			0				breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						c.(919-921)cGa>cAa		upstream binding protein 1 (LBP-1a)							104	99	100					3																	33450189		2203	4300	6503	SO:0001583	missense	7342				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr3:33450189C>T	AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.920G>A	3.37:g.33450189C>T	ENSP00000283629:p.Arg307Gln					UBP1_ENST00000283628.5_Missense_Mutation_p.R307Q|UBP1_ENST00000486388.1_5'UTR|UBP1_ENST00000447368.2_Intron	p.R307Q	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN			8	1449	-			307					Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Missense_Mutation	SNP	ENST00000283629.3	37	c.920G>A	CCDS2659.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.202641	0.79127	.	.	ENSG00000153560	ENST00000283629;ENST00000283628	T;T	0.17528	2.27;2.27	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.35219	0.0924	L	0.47716	1.5	0.58432	D	0.999991	D	0.69078	0.997	D	0.70227	0.968	T	0.00492	-1.1707	10	0.26408	T	0.33	-8.6651	18.3756	0.90435	0.0:1.0:0.0:0.0	.	307	Q9NZI7	UBIP1_HUMAN	Q	307	ENSP00000283629:R307Q;ENSP00000283628:R307Q	ENSP00000283628:R307Q	R	-	2	0	UBP1	33425193	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.985000	0.76193	2.780000	0.95670	0.585000	0.79938	CGA		0.448	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	NM_014517		5	63	0	0	0	1	0	5	63					T	33450189	C	T	33450189	3	4	491	1	0	0	0	0	1	0	0	0	16892	884	31	1	738	1	UBP1	3	33450189	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08		33450189	164572241	12	10002											
KLHDC8B	200942	broad.mit.edu	37	chr3	49210251	49210251	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttggcaagtgttcccccccAtgcccacttgccgggtctat	9	16	1	0			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr3:49210251A>G	ENST00000332780.2	+	2	258	c.49A>G	c.(49-51)Atg>Gtg	p.M17V	KLHDC8B_ENST00000476495.2_3'UTR	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	17						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GTTCCCCCCCATGCCCACTTG	0.632																																						ENST00000332780.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7						c.(49-51)Atg>Gtg		kelch domain containing 8B							56	53	54					3																	49210251		2203	4300	6503	SO:0001583	missense	200942					cytoplasm		g.chr3:49210251A>G		CCDS2791.1	3p21.31	2008-02-05			ENSG00000185909	ENSG00000185909			28557	protein-coding gene	gene with protein product		613169					Standard	NM_173546		Approved	MGC35097	uc003cwh.3	Q8IXV7	OTTHUMG00000156814	ENST00000332780.2:c.49A>G	3.37:g.49210251A>G	ENSP00000327468:p.Met17Val					KLHDC8B_ENST00000476495.2_3'UTR	p.M17V	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	2	258	+			17						Missense_Mutation	SNP	ENST00000332780.2	37	c.49A>G	CCDS2791.1	.	.	.	.	.	.	.	.	.	.	A	19.14	3.770484	0.69992	.	.	ENSG00000185909	ENST00000332780	T	0.66995	-0.24	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.70850	0.3271	M	0.84683	2.71	0.80722	D	1	B	0.33266	0.404	B	0.32533	0.147	T	0.75491	-0.3299	10	0.87932	D	0	-24.1474	14.4471	0.67359	1.0:0.0:0.0:0.0	.	17	Q8IXV7	KLD8B_HUMAN	V	17	ENSP00000327468:M17V	ENSP00000327468:M17V	M	+	1	0	KLHDC8B	49185255	0.990000	0.36364	1.000000	0.80357	0.939000	0.58152	2.992000	0.49417	2.019000	0.59389	0.459000	0.35465	ATG		0.632	KLHDC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345974.1	NM_173546		22	57	0	0	0	1	0	22	57					G	49210251	A	G	49210251	3	3	491	1	0	0	0	0	1	0	0	0	8363	217	8	3	51	3	KLHDC8B	3	49210251	Missense_Mutation	SNP	A	TCGA-L6-A4EU-01A-11D-A257-08	15760062	49210251	148812179	13	10003											
MST1R	4486	broad.mit.edu	37	chr3	49933541	49933541	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcgcccagcccaatataCtgcagagagggtcatgagga	12	11	1	2			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr3:49933541C>T	ENST00000296474.3	-	11	2677		c.e11-1		MST1R_ENST00000344206.4_Intron	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)						cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GCCCAATATACTGCAGAGAGG	0.577																																						ENST00000296474.3																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.e11-1		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)							94	105	101					3																	49933541		2203	4300	6503	SO:0001630	splice_region_variant	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49933541C>T	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"CD molecules"	7381	protein-coding gene	gene with protein product		600168	"PTK8 protein tyrosine kinase 8"	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.2650-1G>A	3.37:g.49933541C>T						MST1R_ENST00000344206.4_Intron		NM_002447.2	NP_002438.2	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	11	2677	-								B5A944|B5A945|B5A946|B5A947	Splice_Site	SNP	ENST00000296474.3	37		CCDS2807.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.998827	0.35226	.	.	ENSG00000164078	ENST00000296474	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8376	0.78811	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MST1R	49908545	1.000000	0.71417	1.000000	0.80357	0.370000	0.29829	4.363000	0.59473	2.521000	0.84997	0.313000	0.20887	.		0.577	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1		Intron	55	127	0	0	0	1	0	55	127					T	49933541	C	T	49933541	5	4	491	1	0	0	0	0	0	0	1	0	9891	579	20	2	1593	2	MST1R	3	49933541	Splice_Site	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	723290	49933541	148088889	14	10004											
ADAMTS9	56999	broad.mit.edu	37	chr3	64527091	64527091	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgcatccccgcacagaatatCtgaaagaccataaataaccc	5	13	1	3			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr3:64527091C>G	ENST00000498707.1	-	35	5635		c.e35-1		ADAMTS9_ENST00000295903.4_Splice_Site	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9						glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CACAGAATATCTGAAAGACCA	0.458																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.e35-1		ADAM metallopeptidase with thrombospondin type 1 motif, 9							119	124	122					3																	64527091		2203	4300	6503	SO:0001630	splice_region_variant	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64527091C>G	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.5293-1G>C	3.37:g.64527091C>G						ADAMTS9_ENST00000295903.4_Splice_Site		NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	35	5635	-		Lung NSC(201;0.00682)						A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Splice_Site	SNP	ENST00000498707.1	37		CCDS2903.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.247807	0.80024	.	.	ENSG00000163638	ENST00000295903;ENST00000498707;ENST00000481060	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9421	0.97168	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADAMTS9	64502131	1.000000	0.71417	0.604000	0.28916	0.864000	0.49448	7.076000	0.76806	2.714000	0.92807	0.561000	0.74099	.		0.458	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1		Intron	6	126	0	0	0	1	0	6	126					G	64527091	C	G	64527091	5	3	491	1	0	0	0	0	0	0	1	0	273	927	32	4	535	4	ADAMTS9	3	64527091	Splice_Site	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	14593550	64527091	133495339	15	10005											
ABCC5	10057	broad.mit.edu	37	chr3	183685541	183685541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcccacactgccacagattCcaaccagtttaccctggaca	5	16	0	1			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr3:183685541C>T	ENST00000334444.6	-	12	2015	c.1775G>A	c.(1774-1776)gGa>gAa	p.G592E	ABCC5_ENST00000265586.6_Missense_Mutation_p.G592E	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	592	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	GCCACAGATTCCAACCAGTTT	0.438																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1774-1776)gGa>gAa		ATP-binding cassette, sub-family C (CFTR/MRP), member 5							165	169	168					3																	183685541		1928	4133	6061	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183685541C>T	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.1775G>A	3.37:g.183685541C>T	ENSP00000333926:p.Gly592Glu					ABCC5_ENST00000265586.6_Missense_Mutation_p.G592E	p.G592E	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		12	2015	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		592			ABC transporter 1.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.1775G>A	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.850517	0.91277	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586	D;D	0.91407	-2.84;-2.84	5.78	5.78	0.91487	ABC transporter, transmembrane domain, type 1 (1);ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.96213	0.8765	M	0.87617	2.895	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.984	D	0.96272	0.9199	10	0.87932	D	0	-13.4223	20.005	0.97433	0.0:1.0:0.0:0.0	.	592;592	Q86UX3;O15440	.;MRP5_HUMAN	E	592;528;592	ENSP00000333926:G592E;ENSP00000265586:G592E	ENSP00000265586:G592E	G	-	2	0	ABCC5	185168235	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	7.456000	0.80751	2.726000	0.93360	0.563000	0.77884	GGA		0.438	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		5	121	0	0	0	1	0	5	121					T	183685541	C	T	183685541	3	4	491	1	0	0	0	0	1	0	0	0	56	855	30	2	2614	2	ABCC5	3	183685541	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	119158450	183685541	14336889	16	10006											
FRAS1	80144	broad.mit.edu	37	chr4	79403640	79403640	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcagcacaaggagccgaactGaccaaacccttccaggcagt	9	14	1	1			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr4:79403640G>A	ENST00000264895.6	+	58	9143	c.8703G>A	c.(8701-8703)ctG>ctA	p.L2901L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2897					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GAGCCGAACTGACCAAACCCT	0.433																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(8701-8703)ctG>ctA		Fraser syndrome 1							153	152	153					4																	79403640		1908	4129	6037	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79403640G>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.8703G>A	4.37:g.79403640G>A							p.L2901L	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			58	9143	+			2896					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	c.8703G>A	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	G	9.706	1.155815	0.21454	.	.	ENSG00000138759	ENST00000512123	.	.	.	5.9	5.05	0.67936	.	.	.	.	.	T	0.60560	0.2278	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56902	-0.7902	4	.	.	.	.	9.4507	0.38725	0.0712:0.0:0.7852:0.1436	.	.	.	.	N	1130	.	.	D	+	1	0	FRAS1	79622664	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.880000	0.28159	2.810000	0.96702	0.585000	0.79938	GAC		0.433	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				6	152	0	0	0	1	0	6	152					A	79403640	G	A	79403640	2	1	491	1	0	0	0	0	0	0	0	1	6042	1277	45	2		2	FRAS1	4	79403640	Silent	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08		79403640	111750636	17	10007											
ALPK1	80216	broad.mit.edu	37	chr4	113360974	113360974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaatatggcttggcctatGgccatttttcttatgagttt	9	7	1	2			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr4:113360974G>A	ENST00000458497.1	+	14	3763	c.3484G>A	c.(3484-3486)Ggc>Agc	p.G1162S	ALPK1_ENST00000177648.9_Missense_Mutation_p.G1162S|ALPK1_ENST00000504176.2_Missense_Mutation_p.G1084S	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1162	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CTTGGCCTATGGCCATTTTTC	0.328																																						ENST00000458497.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53						c.(3484-3486)Ggc>Agc		alpha-kinase 1							53	54	54					4																	113360974		2203	4300	6503	SO:0001583	missense	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113360974G>A	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"lymphocyte alpha-kinase"	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.3484G>A	4.37:g.113360974G>A	ENSP00000398048:p.Gly1162Ser					ALPK1_ENST00000504176.2_Missense_Mutation_p.G1084S|ALPK1_ENST00000177648.9_Missense_Mutation_p.G1162S	p.G1162S	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	14	3763	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	1162			Alpha-type protein kinase.		B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	c.3484G>A	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916828	0.73098	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.04119	3.7;3.7;3.7	5.05	5.05	0.67936	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.057189	0.64402	D	0.000002	T	0.05227	0.0139	N	0.01424	-0.875	0.48236	D	0.999619	D;D;D	0.69078	0.991;0.997;0.983	P;D;P	0.68483	0.895;0.958;0.851	T	0.64863	-0.6307	10	0.17832	T	0.49	-21.1365	13.7936	0.63157	0.0767:0.0:0.9233:0.0	.	1084;1084;1162	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	S	1162;1162;1084	ENSP00000398048:G1162S;ENSP00000177648:G1162S;ENSP00000426044:G1084S	ENSP00000177648:G1162S	G	+	1	0	ALPK1	113580423	1.000000	0.71417	0.997000	0.53966	0.961000	0.63080	6.058000	0.71126	2.344000	0.79699	0.544000	0.68410	GGC		0.328	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		9	14	0	0	0	1	0	9	14					A	113360974	G	A	113360974	3	1	491	1	0	0	0	0	1	0	0	0	544	1348	47	2	3530	2	ALPK1	4	113360974	Missense_Mutation	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08	33957334	113360974	77793302	18	10008											
CARD6	84674	broad.mit.edu	37	chr5	40854171	40854171	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaaaactaagacctgcttctCagcaaggagtccagatgaag	9	9	1	3			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr5:40854171C>T	ENST00000254691.5	+	3	2936	c.2737C>T	c.(2737-2739)Cag>Tag	p.Q913*	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	913					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						ACCTGCTTCTCAGCAAGGAGT	0.478																																						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.(2737-2739)Cag>Tag		caspase recruitment domain family, member 6							97	104	102					5																	40854171		2203	4300	6503	SO:0001587	stop_gained	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40854171C>T	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.2737C>T	5.37:g.40854171C>T	ENSP00000254691:p.Gln913*					CARD6_ENST00000381677.3_Intron	p.Q913*	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN			3	2936	+			913					Q52LR2	Nonsense_Mutation	SNP	ENST00000254691.5	37	c.2737C>T	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	C	40	8.311953	0.98754	.	.	ENSG00000132357	ENST00000254691	.	.	.	4.38	2.25	0.28309	.	1.143330	0.06705	N	0.772027	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	1.1857	4.5723	0.12216	0.0:0.6335:0.2097:0.1568	.	.	.	.	X	913	.	ENSP00000254691:Q913X	Q	+	1	0	CARD6	40889928	0.006000	0.16342	0.001000	0.08648	0.864000	0.49448	0.849000	0.27723	0.405000	0.25532	0.313000	0.20887	CAG		0.478	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			11	190	0	0	0	1	0	11	190					T	40854171	C	T	40854171	4	4	491	1	0	0	0	0	0	1	0	0	2650	827	29	2	2747	2	CARD6	5	40854171	Nonsense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08		40854171	140061089	19	10009											
CARD6	84674	broad.mit.edu	37	chr5	40854298	40854298	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cccatccacagtcaaacactCccagcctaaacccttccatt	2	19	1	0			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr5:40854298C>G	ENST00000254691.5	+	3	3063	c.2864C>G	c.(2863-2865)tCc>tGc	p.S955C	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	955					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						GTCAAACACTCCCAGCCTAAA	0.502																																						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.(2863-2865)tCc>tGc		caspase recruitment domain family, member 6							216	239	231					5																	40854298		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40854298C>G	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.2864C>G	5.37:g.40854298C>G	ENSP00000254691:p.Ser955Cys					CARD6_ENST00000381677.3_Intron	p.S955C	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN			3	3063	+			955					Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.2864C>G	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.553888	0.27739	.	.	ENSG00000132357	ENST00000254691	D	0.96200	-3.94	4.38	2.28	0.28536	.	0.936169	0.08889	N	0.878858	D	0.89121	0.6625	N	0.19112	0.55	0.09310	N	0.999995	P	0.40000	0.698	B	0.36418	0.224	T	0.81803	-0.0765	10	0.56958	D	0.05	-0.1986	4.9788	0.14155	0.0:0.5962:0.0:0.4038	.	955	Q9BX69	CARD6_HUMAN	C	955	ENSP00000254691:S955C	ENSP00000254691:S955C	S	+	2	0	CARD6	40890055	0.000000	0.05858	0.001000	0.08648	0.151000	0.21798	0.332000	0.19751	0.368000	0.24481	0.313000	0.20887	TCC		0.502	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			24	282	0	0	0	1	0	24	282					G	40854298	C	G	40854298	3	3	491	1	0	0	0	0	1	0	0	0	2650	855	30	4	2874	4	CARD6	5	40854298	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	127	40854298	140060962	20	10010											
PELO	53918	broad.mit.edu	37	chr5	52097426	52097426	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agcaggtggagaaggccaatGaagccatggcaattgacaca	13	8	0	3			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr5:52097426G>T	ENST00000274311.2	+	3	1895	c.910G>T	c.(910-912)Gaa>Taa	p.E304*	ITGA1_ENST00000504086.1_Intron|ITGA1_ENST00000282588.6_Intron|PELO_ENST00000506949.1_3'UTR	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	304					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA catabolic process, non-stop decay (GO:0070481)|RNA surveillance (GO:0071025)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				GAAGGCCAATGAAGCCATGGC	0.502																																						ENST00000274311.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11						c.(910-912)Gaa>Taa		pelota homolog (Drosophila)							97	84	88					5																	52097426		2203	4300	6503	SO:0001587	stop_gained	53918				cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding	g.chr5:52097426G>T		CCDS3956.1	5q11.2	2008-07-18	2001-11-28		ENSG00000152684	ENSG00000152684			8829	protein-coding gene	gene with protein product		605757	"pelota (Drosophila) homolog"			11060452	Standard	NM_015946		Approved		uc003jos.3	Q9BRX2	OTTHUMG00000096973	ENST00000274311.2:c.910G>T	5.37:g.52097426G>T	ENSP00000274311:p.Glu304*					PELO_ENST00000506949.1_3'UTR|ITGA1_ENST00000282588.6_Intron|ITGA1_ENST00000504086.1_Intron	p.E304*	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN			3	1895	+		Lung NSC(810;4.94e-05)|Breast(144;0.0848)	304					Q9GZS6|Q9Y306	Nonsense_Mutation	SNP	ENST00000274311.2	37	c.910G>T	CCDS3956.1	.	.	.	.	.	.	.	.	.	.	G	46	12.150867	0.99640	.	.	ENSG00000152684	ENST00000274311	.	.	.	5.91	5.91	0.95273	.	0.063718	0.64402	U	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-16.5117	19.9	0.96981	0.0:0.0:1.0:0.0	.	.	.	.	X	304	.	ENSP00000274311:E304X	E	+	1	0	PELO	52133183	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.609000	0.90898	2.794000	0.96219	0.655000	0.94253	GAA		0.502	PELO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214040.1	NM_015946		20	48	1	0	8.00594e-06	1	8.47231e-06	20	48					T	52097426	G	T	52097426	4	4	491	1	0	0	0	0	0	1	0	0	11724	1291	45	4	916	4	PELO	5	52097426	Nonsense_Mutation	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08	11243128	52097426	128817834	21	10011											
LOX	4015	broad.mit.edu	37	chr5	121413255	121413255	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggcgctgtctggttctcCgcgcgcgaggcgccagcttc	14	17	2	0			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr5:121413255C>T	ENST00000231004.4	-	1	725	c.426G>A	c.(424-426)gcG>gcA	p.A142A	LOX_ENST00000513319.1_5'Flank	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase	142					blood vessel development (GO:0001568)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|wound healing (GO:0042060)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)			endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		TCTGGTTCTCCGCGCGCGAGG	0.682																																						ENST00000231004.4																			0				endometrium(1)|lung(6)|prostate(1)	8						c.(424-426)gcG>gcA		lysyl oxidase							23	28	27					5																	121413255		2179	4294	6473	SO:0001819	synonymous_variant	4015				protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity	g.chr5:121413255C>T		CCDS4129.1	5q23.3-q31.2	2008-02-05			ENSG00000113083	ENSG00000113083	1.4.3.13		6664	protein-coding gene	gene with protein product		153455				1685472	Standard	NM_002317		Approved		uc003ksu.3	P28300	OTTHUMG00000128914	ENST00000231004.4:c.426G>A	5.37:g.121413255C>T							p.A142A	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)	1	725	-		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	142					B2R5Q3|Q5FWF0	Silent	SNP	ENST00000231004.4	37	c.426G>A	CCDS4129.1																																																																																				0.682	LOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250887.2			28	38	0	0	0	1	0	28	38					T	121413255	C	T	121413255	2	4	491	1	0	0	0	0	0	0	0	1	8898	639	23	1		1	LOX	5	121413255	Silent	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	69315829	121413255	59502005	22	10012											
PCDHGA1	56114	broad.mit.edu	37	chr5	140710854	140710855	+	Frame_Shift_Ins	INS	-	-	AGAGAAG													tgctgcagagtcccttagacINSagagaagaagaagctgtcca					rs370993897		TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr5:140710854_140710855insAGAGAAG	ENST00000517417.1	+	1	603_604	c.603_604insAGAGAAG	c.(604-606)agafs	p.-204fs	PCDHGA1_ENST00000378105.3_Frame_Shift_Ins_p.-204fs|AC005618.6_ENST00000606901.1_lincRNA	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCCTTAGACAGAGAAGAAGA	0.535																																						ENST00000517417.1																			0				breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78						c.(601-606)gagagafs																																						SO:0001589	frameshift_variant	0							g.chr5:140710854_140710855insAGAGAAG	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.604_610dupAGAGAAG	5.37:g.140710855_140710861dupAGAGAAG	ENSP00000431083:p.Glu204fs					PCDHGA1_ENST00000378105.3_Frame_Shift_Ins_p.R202fs	p.R202fs	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	603_604	+								Q2M273|Q9Y5D6	Frame_Shift_Ins	INS	ENST00000517417.1	37	c.603_604insAGAGAAG	CCDS54922.1																																																																																				0.535	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		20	70						20	70	---	---	---	---	AGAGAAG	140710855	-	AGAGAAG	140710854	7	5	491	1	0	1	1	0	0	0	0	0	11550	477	17	0	605	0	PCDHGA1	5	140710854	Frame_Shift_Ins	INS	-	TCGA-L6-A4EU-01A-11D-A257-08	19297599	140710854	40204406	23	10013											
UBR2	23304	broad.mit.edu	37	chr6	42626418	42626418	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agacaaagctgagaggaagaGaaaagcagagattgccagac	13	6	0	5			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr6:42626418G>A	ENST00000372899.1	+	29	3356	c.3098G>A	c.(3097-3099)aGa>aAa	p.R1033K	UBR2_ENST00000372901.1_Missense_Mutation_p.R1033K|UBR2_ENST00000372883.3_Missense_Mutation_p.E541K	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1033					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)			GAGAGGAAGAGAAAAGCAGAG	0.393																																						ENST00000372899.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64						c.(3097-3099)aGa>aAa		ubiquitin protein ligase E3 component n-recognin 2							81	81	81					6																	42626418		2203	4300	6503	SO:0001583	missense	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.chr6:42626418G>A	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.3098G>A	6.37:g.42626418G>A	ENSP00000361990:p.Arg1033Lys					UBR2_ENST00000372883.3_Missense_Mutation_p.E541K|UBR2_ENST00000372901.1_Missense_Mutation_p.R1033K	p.R1033K	NM_015255.2	NP_056070.1	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)		29	3356	+	Colorectal(47;0.196)		1033					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	c.3098G>A	CCDS4870.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.435016|4.435016	0.83885|0.83885	.|.	.|.	ENSG00000024048|ENSG00000024048	ENST00000372883|ENST00000372899;ENST00000372901	T|T;T	0.55234|0.66815	0.53|-0.23;-0.23	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.59432|0.59432	0.2193|0.2193	M|M	0.66939|0.66939	2.045|2.045	0.46631|0.46631	D|D	0.999135|0.999135	.|P;B	.|0.46859	.|0.885;0.402	.|B;B	.|0.41374	.|0.355;0.074	T|T	0.63075|0.63075	-0.6718|-0.6718	7|9	0.05959|.	T|.	0.93|.	-23.6361|-23.6361	19.7043|19.7043	0.96067|0.96067	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1033;1033	.|Q8IWV8-4;Q8IWV8	.|.;UBR2_HUMAN	K|K	541|1033	ENSP00000361974:E541K|ENSP00000361990:R1033K;ENSP00000361992:R1033K	ENSP00000361974:E541K|.	E|R	+|+	1|2	0|0	UBR2|UBR2	42734396|42734396	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.994000|0.994000	0.84299|0.84299	9.864000|9.864000	0.99589|0.99589	2.635000|2.635000	0.89317|0.89317	0.563000|0.563000	0.77884|0.77884	GAA|AGA		0.393	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		4	64	0	0	0	1	0	4	64					A	42626418	G	A	42626418	3	1	491	1	0	0	0	0	1	0	0	0	16899	942	33	2	3358	2	UBR2	6	42626418	Missense_Mutation	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08		42626418	128488649	24	10014											
DST	667	broad.mit.edu	37	chr6	56496024	56496024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catacttatctatgtaagtgGaagacatagaatagacttgg	9	5	1	3			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr6:56496024G>A	ENST00000361203.3	-	26	3501	c.3494C>T	c.(3493-3495)tCc>tTc	p.S1165F	DST_ENST00000421834.2_Missense_Mutation_p.S1165F|DST_ENST00000370754.5_Missense_Mutation_p.S1343F|DST_ENST00000244364.6_Missense_Mutation_p.S839F|DST_ENST00000370788.2_Missense_Mutation_p.S1165F|DST_ENST00000446842.2_Missense_Mutation_p.S839F|DST_ENST00000370769.4_Missense_Mutation_p.S1165F|DST_ENST00000312431.6_Missense_Mutation_p.S1165F|DST_ENST00000370765.6_Missense_Mutation_p.S839F|DST_ENST00000518935.1_Missense_Mutation_p.S839F			Q03001	DYST_HUMAN	dystonin	1165					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATGTAAGTGGAAGACATAGA	0.318																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(4027-4029)tCc>tTc		dystonin							112	105	107					6																	56496024		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56496024G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.3494C>T	6.37:g.56496024G>A	ENSP00000354508:p.Ser1165Phe					DST_ENST00000370765.6_Missense_Mutation_p.S839F|DST_ENST00000518935.1_Missense_Mutation_p.S839F|DST_ENST00000446842.2_Missense_Mutation_p.S839F|DST_ENST00000244364.6_Missense_Mutation_p.S839F|DST_ENST00000370788.2_Missense_Mutation_p.S1165F|DST_ENST00000361203.3_Missense_Mutation_p.S1165F|DST_ENST00000370769.4_Missense_Mutation_p.S1165F|DST_ENST00000312431.6_Missense_Mutation_p.S1165F|DST_ENST00000421834.2_Missense_Mutation_p.S1165F	p.S1343F			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		29	4027	-	Lung NSC(77;0.103)		1165					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.4028C>T		.	.	.	.	.	.	.	.	.	.	G	26.0	4.698399	0.88830	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;T;T;T;T;T;T;T	0.77358	-1.09;1.3;1.3;1.3;1.3;-1.09;1.3;-0.25;-1.09;-1.09;-1.09;-1.09	5.57	5.57	0.84162	.	0.135982	0.33712	N	0.004636	D	0.85957	0.5818	M	0.69823	2.125	0.34927	D	0.749013	P;D;P;P;P;D;P;P	0.69078	0.771;0.989;0.771;0.865;0.831;0.997;0.771;0.534	P;P;P;P;P;D;P;B	0.71656	0.48;0.768;0.48;0.713;0.622;0.974;0.48;0.196	D	0.86433	0.1762	9	0.66056	D	0.02	.	19.5635	0.95382	0.0:0.0:1.0:0.0	.	1165;1165;1343;839;839;839;1165;839	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	F	839;1343;1165;1165;839;1165;1165;1165;839;1205;839;839	ENSP00000244364:S839F;ENSP00000359790:S1343F;ENSP00000359805:S1165F;ENSP00000400883:S1165F;ENSP00000393645:S839F;ENSP00000307959:S1165F;ENSP00000359824:S1165F;ENSP00000354508:S1165F;ENSP00000404924:S839F;ENSP00000431030:S1205F;ENSP00000359801:S839F;ENSP00000431003:S839F	ENSP00000244364:S839F	S	-	2	0	DST	56603983	1.000000	0.71417	0.987000	0.45799	0.971000	0.66376	5.544000	0.67231	2.636000	0.89361	0.557000	0.71058	TCC		0.318	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		7	23	0	0	0	1	0	7	23					A	56496024	G	A	56496024	3	1	491	1	0	0	0	0	1	0	0	0	4783	1174	41	2	17915	2	DST	6	56496024	Missense_Mutation	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08	13869606	56496024	114619043	25	10015											
KIAA1919	91749	broad.mit.edu	37	chr6	111583465	111583465	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctttttaaattttagggattGagtgttgctatagtgggacc	11	4	0	1			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr6:111583465G>A	ENST00000368847.4	+	2	386	c.33G>A	c.(31-33)ttG>ttA	p.L11L		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	11					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		TTTAGGGATTGAGTGTTGCTA	0.358																																						ENST00000368847.4																			0				large_intestine(3)|lung(2)|ovary(4)|skin(3)	12						c.(31-33)ttG>ttA		KIAA1919							156	150	152					6																	111583465		2203	4300	6503	SO:0001819	synonymous_variant	91749				carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr6:111583465G>A	BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.33G>A	6.37:g.111583465G>A							p.L11L	NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)	2	386	+		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)	11					A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Silent	SNP	ENST00000368847.4	37	c.33G>A	CCDS5090.1																																																																																				0.358	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041827.1	NM_153369		5	109	0	0	0	1	0	5	109					A	111583465	G	A	111583465	2	1	491	1	0	0	0	0	0	0	0	1	8262	1281	45	2		2	KIAA1919	6	111583465	Silent	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08	55087441	111583465	59531602	26	10016											
DPY19L1	23333	broad.mit.edu	37	chr7	34979763	34979763	+	Splice_Site	DEL	A	A	-													tttttcttttttttttttttAcctggtttagtactatattt							TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr7:34979763delA	ENST00000310974.4	-	19	1790		c.e19+1		MIR548N_ENST00000408742.1_RNA	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)							integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						ttttttttttACCTGGTTTAG	0.328																																						ENST00000310974.4																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						c.e19+1		dpy-19-like 1 (C. elegans)							27	23	24					7																	34979763		1765	4013	5778	SO:0001630	splice_region_variant	23333					integral to membrane		g.chr7:34979763delA	AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.1645+1T>-	7.37:g.34979763delA								NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN			19	1790	-								O94954|Q4G151	Splice_Site	DEL	ENST00000310974.4	37		CCDS43567.1																																																																																				0.328	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1		Intron	2	4						2	4	---	---	---	---	-	34979763	A	-	34979763	8	5	491	1	0	1	0	1	0	0	1	0	4740	405	14	0	396	0	DPY19L1	7	34979763	Splice_Site	DEL	A	TCGA-L6-A4EU-01A-11D-A257-08		34979763	124158900	27	10017											
TRRAP	8295	broad.mit.edu	37	chr7	98507778	98507778	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttggagccgtggaagcagctCtgcctggggtgcccactgcc	15	13	1	0			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr7:98507778C>T	ENST00000359863.4	+	15	1659	c.1450C>T	c.(1450-1452)Ctg>Ttg	p.L484L	TRRAP_ENST00000355540.3_Silent_p.L484L|TRRAP_ENST00000446306.3_Silent_p.L484L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	484					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)			GGAAGCAGCTCTGCCTGGGGT	0.622																																						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.(1450-1452)Ctg>Ttg		transformation/transcription domain-associated protein							81	89	86					7																	98507778		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.chr7:98507778C>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.1450C>T	7.37:g.98507778C>T						TRRAP_ENST00000446306.3_Silent_p.L484L|TRRAP_ENST00000355540.3_Silent_p.L484L	p.L484L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		15	1659	+	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)		484					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.1450C>T	CCDS59066.1																																																																																				0.622	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		5	118	0	0	0	1	0	5	118					T	98507778	C	T	98507778	2	4	491	1	0	0	0	0	0	0	0	1	16598	912	32	2		2	TRRAP	7	98507778	Silent	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	63528015	98507778	60630885	28	10018											
CPA1	1357	broad.mit.edu	37	chr7	130027837	130027837	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	accatcatggagcacaccctGaatcacccctactgagctga	7	15	2	3			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr7:130027837G>C	ENST00000011292.3	+	10	1395	c.1245G>C	c.(1243-1245)ctG>ctC	p.L415L	CPA1_ENST00000484324.1_Silent_p.L327L	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	415					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					AGCACACCCTGAATCACCCCT	0.567																																						ENST00000011292.3																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21						c.(1243-1245)ctG>ctC		carboxypeptidase A1 (pancreatic)							210	192	198					7																	130027837		2203	4300	6503	SO:0001819	synonymous_variant	1357				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130027837G>C		CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"pancreatic carboxypeptidase A"	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.1245G>C	7.37:g.130027837G>C						CPA1_ENST00000484324.1_Silent_p.L327L	p.L415L	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN			10	1395	+	Melanoma(18;0.0435)		415					A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Silent	SNP	ENST00000011292.3	37	c.1245G>C	CCDS5820.1																																																																																				0.567	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	NM_001868		14	278	0	0	0	1	0	14	278					C	130027837	G	C	130027837	2	2	491	1	0	0	0	0	0	0	0	1	3789	1277	45	4		4	CPA1	7	130027837	Silent	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08	31520059	130027837	29110826	29	10019											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		24	26	0	0	0	1	0	24	26					T	140453136	A	T	140453136	3	4	491	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-L6-A4EU-01A-11D-A257-08	10425299	140453136	18685527	30	10020											
PRSS1	5644	broad.mit.edu	37	chr7	142458441	142458441	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatgatgacaagatcgttGggggctacaactgtgaggag	15	5	0	5			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr7:142458441G>A	ENST00000311737.7	+	2	82	c.76G>A	c.(76-78)Ggg>Agg	p.G26R	PRSS1_ENST00000486171.1_Missense_Mutation_p.G26R	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	26	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	CAAGATCGTTGGGGGCTACAA	0.547																																						ENST00000486171.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38						c.(76-78)Ggg>Agg		protease, serine, 1 (trypsin 1)							156	153	154					7																	142458441		2203	4300	6503	SO:0001583	missense	5644				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142458441G>A	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"Serine peptidases / Serine peptidases"	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.76G>A	7.37:g.142458441G>A	ENSP00000308720:p.Gly26Arg					PRSS1_ENST00000311737.7_Missense_Mutation_p.G26R	p.G26R			P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		2	93	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	26			Peptidase S1.		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	c.76G>A	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943648	0.53079	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243	D;D	0.95554	-3.74;-3.74	3.49	3.49	0.39957	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.98340	0.9449	H	0.95982	3.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99346	1.0913	10	0.87932	D	0	.	14.3966	0.67015	0.0:0.0:1.0:0.0	.	26	P07477	TRY1_HUMAN	R	26	ENSP00000417854:G26R;ENSP00000308720:G26R	ENSP00000308720:G26R	G	+	1	0	PRSS1	142138015	1.000000	0.71417	0.986000	0.45419	0.006000	0.05464	9.521000	0.98029	1.879000	0.54435	0.404000	0.27445	GGG		0.547	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			8	203	0	0	0	1	0	8	203					A	142458441	G	A	142458441	3	1	491	1	0	0	0	0	1	0	0	0	12614	1348	47	2	82	2	PRSS1	7	142458441	Missense_Mutation	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08	2005305	142458441	16680222	31	10021											
KEL	3792	broad.mit.edu	37	chr7	142650897	142650897	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atcccacctgcggcgaacctCtgctttagcagcatctcctc	7	17	2	0			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr7:142650897C>G	ENST00000355265.2	-	9	1545	c.1071G>C	c.(1069-1071)caG>caC	p.Q357H	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	357					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CGGCGAACCTCTGCTTTAGCA	0.547																																						ENST00000355265.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(1069-1071)caG>caC		Kell blood group, metallo-endopeptidase							278	284	282					7																	142650897		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142650897C>G	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1071G>C	7.37:g.142650897C>G	ENSP00000347409:p.Gln357His					KEL_ENST00000479768.2_5'UTR	p.Q357H	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN			9	1545	-	Melanoma(164;0.059)		357					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.1071G>C	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	C	0.047	-1.262896	0.01445	.	.	ENSG00000197993	ENST00000355265	T	0.73681	-0.77	5.73	1.51	0.23008	Peptidase M13 (1);	1.256980	0.05394	N	0.539505	T	0.39759	0.1090	N	0.00197	-1.87	0.19300	N	0.99998	B	0.02656	0.0	B	0.01281	0.0	T	0.25813	-1.0121	10	0.25106	T	0.35	-3.2661	9.8383	0.40982	0.0:0.4413:0.4121:0.1466	.	357	P23276	KELL_HUMAN	H	357	ENSP00000347409:Q357H	ENSP00000347409:Q357H	Q	-	3	2	KEL	142361019	1.000000	0.71417	0.769000	0.31535	0.029000	0.11900	2.336000	0.43938	0.322000	0.23283	-0.290000	0.09829	CAG		0.547	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		22	345	0	0	0	1	0	22	345					G	142650897	C	G	142650897	3	3	491	1	0	0	0	0	1	0	0	0	8142	912	32	4	1171	4	KEL	7	142650897	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	192456	142650897	16487766	32	10022											
DLC1	10395	broad.mit.edu	37	chr8	12957007	12957007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atccaggtgtatctgttttgGagaggacgggcagggagaga	17	5	1	2			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr8:12957007G>A	ENST00000276297.4	-	9	3248	c.2839C>T	c.(2839-2841)Cca>Tca	p.P947S	DLC1_ENST00000512044.2_Missense_Mutation_p.P544S|DLC1_ENST00000520226.1_Missense_Mutation_p.P436S|DLC1_ENST00000358919.2_Missense_Mutation_p.P510S	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	947					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						ATCTGTTTTGGAGAGGACGGG	0.567																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2839-2841)Cca>Tca		deleted in liver cancer 1							102	95	98					8																	12957007		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957007G>A	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2839C>T	8.37:g.12957007G>A	ENSP00000276297:p.Pro947Ser					DLC1_ENST00000520226.1_Missense_Mutation_p.P436S|DLC1_ENST00000512044.2_Missense_Mutation_p.P544S|DLC1_ENST00000358919.2_Missense_Mutation_p.P510S	p.P947S	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	3248	-			947					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.2839C>T	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989532	0.74589	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.08102	3.49;3.25;3.24;3.13	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.27832	0.0685	L	0.58669	1.825	0.80722	D	1	D;P;D	0.89917	1.0;0.942;1.0	D;P;D	0.87578	0.991;0.463;0.998	T	0.00115	-1.2039	10	0.46703	T	0.11	.	19.6216	0.95658	0.0:0.0:1.0:0.0	.	947;544;510	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	S	947;510;544;436	ENSP00000276297:P947S;ENSP00000351797:P510S;ENSP00000422595:P544S;ENSP00000428028:P436S	ENSP00000276297:P947S	P	-	1	0	DLC1	13001378	1.000000	0.71417	0.946000	0.38457	0.792000	0.44763	9.624000	0.98398	2.717000	0.92951	0.655000	0.94253	CCA		0.567	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		4	71	0	0	0	1	0	4	71					A	12957007	G	A	12957007	3	1	491	1	0	0	0	0	1	0	0	0	4550	1174	41	2	1787	2	DLC1	8	12957007	Missense_Mutation	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08		12957007	133407015	33	10023											
SLC30A8	169026	broad.mit.edu	37	chr8	118159317	118159317	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccacagaaaagggggcgaatGagtacgcctatgccaagtgg	14	9	0	2	rs200895741		TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr8:118159317G>A	ENST00000456015.2	+	2	196	c.196G>A	c.(196-198)Gag>Aag	p.E66K	SLC30A8_ENST00000519688.1_Missense_Mutation_p.E17K|SLC30A8_ENST00000427715.2_Missense_Mutation_p.E17K|SLC30A8_ENST00000521243.1_Missense_Mutation_p.E17K	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	66					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.E66Q(1)		breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			GGGGGCGAATGAGTACGCCTA	0.498													G|||	1	0.000199681	8e-04	0	5008	,	,		18639	0		0	False		,,,				2504	0				Ovarian(162;1202 1922 6011 16223 52092)	ENST00000427715.2																			1	Substitution - Missense(1)	p.E66Q(1)	lung(1)	breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41						c.(49-51)Gag>Aag		solute carrier family 30 (zinc transporter), member 8							176	149	159					8																	118159317		2203	4300	6503	SO:0001583	missense	169026				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	g.chr8:118159317G>A		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"Solute carriers"	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.196G>A	8.37:g.118159317G>A	ENSP00000415011:p.Glu66Lys					SLC30A8_ENST00000521243.1_Missense_Mutation_p.E17K|SLC30A8_ENST00000456015.2_Missense_Mutation_p.E66K|SLC30A8_ENST00000519688.1_Missense_Mutation_p.E17K	p.E17K	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	STAD - Stomach adenocarcinoma(47;0.203)		5	483	+	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		66					A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	ENST00000456015.2	37	c.49G>A	CCDS6322.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	9.946	1.218833	0.22373	.	.	ENSG00000164756	ENST00000521243;ENST00000524274;ENST00000427715;ENST00000519688;ENST00000456015	T;T;T;T	0.64260	-0.03;-0.03;-0.03;-0.09	5.97	4.16	0.48862	.	0.050799	0.85682	N	0.000000	T	0.39253	0.1071	N	0.11560	0.145	0.54753	D	0.999983	B	0.09022	0.002	B	0.12837	0.008	T	0.18618	-1.0331	10	0.18276	T	0.48	-14.5488	10.4253	0.44373	0.1596:0.0:0.8404:0.0	.	66	Q8IWU4	ZNT8_HUMAN	K	17;17;17;17;66	ENSP00000428545:E17K;ENSP00000407505:E17K;ENSP00000431069:E17K;ENSP00000415011:E66K	ENSP00000407505:E17K	E	+	1	0	SLC30A8	118228498	1.000000	0.71417	0.693000	0.30195	0.025000	0.11179	3.699000	0.54778	1.508000	0.48769	0.655000	0.94253	GAG		0.498	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		5	133	0	0	0	1	0	5	133					A	118159317	G	A	118159317	3	1	491	1	0	0	0	0	1	0	0	0	14561	1291	45	2	202	2	SLC30A8	8	118159317	Missense_Mutation	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08	105202310	118159317	28204705	34	10024											
FER1L6	654463	broad.mit.edu	37	chr8	125072866	125072866	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcaggctctcattgagtgCggaggacaaggtgtgaagtc	14	9	2	2	rs369624500		TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr8:125072866C>T	ENST00000522917.1	+	24	3269	c.3063C>T	c.(3061-3063)tgC>tgT	p.C1021C	FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Silent_p.C1021C|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1021						integral component of membrane (GO:0016021)		p.C1021C(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCATTGAGTGCGGAGGACAAG	0.547																																						ENST00000522917.1																			1	Substitution - coding silent(1)	p.C1021C(1)	kidney(1)	NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(3061-3063)tgC>tgT		fer-1-like 6 (C. elegans)							144	126	132					8																	125072866		2203	4300	6503	SO:0001819	synonymous_variant	654463					integral to membrane		g.chr8:125072866C>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.3063C>T	8.37:g.125072866C>T						FER1L6_ENST00000399018.1_Silent_p.C1021C|FER1L6-AS2_ENST00000601180.1_RNA|FER1L6-AS2_ENST00000520031.1_RNA	p.C1021C	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		24	3269	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1021						Silent	SNP	ENST00000522917.1	37	c.3063C>T	CCDS43767.1																																																																																				0.547	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		26	56	0	0	0	1	0	26	56					T	125072866	C	T	125072866	2	4	491	1	0	0	0	0	0	0	0	1	5815	776	27	1		1	FER1L6	8	125072866	Silent	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	6913549	125072866	21291156	35	10025											
DDX58	23586	broad.mit.edu	37	chr9	32457322	32457322	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggcacagaatatctttgctCttttttcaaaacttgaaaac	6	8	3	2			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr9:32457322C>T	ENST00000379883.2	-	18	2733	c.2576G>A	c.(2575-2577)aGa>aAa	p.R859K	DDX58_ENST00000379882.1_Missense_Mutation_p.R814K|DDX58_ENST00000542096.1_Missense_Mutation_p.R788K|DDX58_ENST00000379868.1_Missense_Mutation_p.R656K	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	859	Interaction with ZC3HAV1.|Repressor domain.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TATCTTTGCTCTTTTTTCAAA	0.398																																						ENST00000379882.1																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(2440-2442)aGa>aAa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 58							107	100	103					9																	32457322		2203	4300	6503	SO:0001583	missense	23586				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding	g.chr9:32457322C>T	AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"DEAD-boxes"	19102	protein-coding gene	gene with protein product	"RNA helicase RIG-I", "retinoic acid inducible gene I"	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.2576G>A	9.37:g.32457322C>T	ENSP00000369213:p.Arg859Lys					DDX58_ENST00000379883.2_Missense_Mutation_p.R859K|DDX58_ENST00000542096.1_Missense_Mutation_p.R788K|DDX58_ENST00000379868.1_Missense_Mutation_p.R656K	p.R814K			O95786	DDX58_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)	17	2598	-			859			Repressor domain.		A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Missense_Mutation	SNP	ENST00000379883.2	37	c.2441G>A	CCDS6526.1	.	.	.	.	.	.	.	.	.	.	C	1.598	-0.527269	0.04141	.	.	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000379868;ENST00000542096	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.83	-9.58	0.00559	C-terminal domain of RIG-I (1);	0.768164	0.12221	N	0.488323	T	0.09158	0.0226	N	0.02315	-0.6	0.53005	D	0.999965	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34750	-0.9816	10	0.02654	T	1	-3.0156	4.2485	0.10682	0.2809:0.4701:0.0905:0.1585	.	788;859	B3KWW1;O95786	.;DDX58_HUMAN	K	814;859;656;788	ENSP00000369212:R814K;ENSP00000369213:R859K;ENSP00000369197:R656K;ENSP00000442160:R788K	ENSP00000369197:R656K	R	-	2	0	DDX58	32447322	0.000000	0.05858	0.945000	0.38365	0.247000	0.25773	-2.632000	0.00870	-0.797000	0.04450	0.650000	0.86243	AGA		0.398	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314		10	54	0	0	0	1	0	10	54					T	32457322	C	T	32457322	3	4	491	1	0	0	0	0	1	0	0	0	4375	913	32	2	205	2	DDX58	9	32457322	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08		32457322	108756109	36	10026											
TMEM2	23670	broad.mit.edu	37	chr9	74360334	74360334	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gccaaatgttggcatactttCaccttcatctgacttgccat	6	12	3	1			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr9:74360334C>T	ENST00000377044.4	-	4	1173	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K	TMEM2_ENST00000377066.5_Missense_Mutation_p.E212K	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	212	G8. {ECO:0000255|PROSITE- ProRule:PRU00817}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GGCATACTTTCACCTTCATCT	0.483																																						ENST00000377044.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56						c.(634-636)Gaa>Aaa		transmembrane protein 2							141	128	132					9																	74360334		2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74360334C>T		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.634G>A	9.37:g.74360334C>T	ENSP00000366243:p.Glu212Lys					TMEM2_ENST00000377066.5_Missense_Mutation_p.E212K	p.E212K	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	4	1173	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	212			G8.		A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.634G>A	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.229506	0.39399	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	D;D	0.89617	-2.54;-2.54	6.03	5.12	0.69794	G8 domain (2);	0.288679	0.42682	D	0.000674	T	0.81394	0.4813	N	0.17474	0.49	0.80722	D	1	B;B	0.10296	0.002;0.003	B;B	0.14023	0.01;0.004	T	0.74976	-0.3480	10	0.20046	T	0.44	.	17.4358	0.87552	0.0:0.8756:0.1244:0.0	.	212;212	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	K	212	ENSP00000366243:E212K;ENSP00000366266:E212K	ENSP00000366243:E212K	E	-	1	0	TMEM2	73550154	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.719000	0.47244	1.542000	0.49330	0.655000	0.94253	GAA		0.483	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		31	72	0	0	0	1	0	31	72					T	74360334	C	T	74360334	3	4	491	1	0	0	0	0	1	0	0	0	16118	835	29	2	3601	2	TMEM2	9	74360334	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	41903012	74360334	66853097	37	10027											
C9orf152	401546	broad.mit.edu	37	chr9	112963659	112963662	+	Frame_Shift_Del	DEL	CAGA	CAGA	-													ctccagcctcccctccacctCagaatctgcctcttccaggg							TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr9:112963659_112963662delCAGA	ENST00000400613.4	-	2	895_898	c.286_289delTCTG	c.(286-291)tctgagfs	p.SE96fs	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	96								p.E76Q(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						CCCTCCACCTCAGAATCTGCCTCT	0.554																																						ENST00000400613.4																			1	Substitution - Missense(1)	p.E76Q(1)	NS(1)	NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						c.(286-291)agfs		chromosome 9 open reading frame 152																																				SO:0001589	frameshift_variant	401546							g.chr9:112963659_112963662delCAGA	BX648620	CCDS35102.2	9q31.3	2012-04-03			ENSG00000188959	ENSG00000188959			31455	protein-coding gene	gene with protein product							Standard	NM_001012993		Approved	bA470J20.2	uc011lwk.2	Q5JTZ5	OTTHUMG00000020478	ENST00000400613.4:c.286_289delTCTG	9.37:g.112963659_112963662delCAGA	ENSP00000383456:p.Ser96fs					C9orf152_ENST00000473442.1_Intron	p.SE96fs	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN			2	895_898	-			96					A8MWT6	Frame_Shift_Del	DEL	ENST00000400613.4	37	c.286_289delTCTG	CCDS35102.2																																																																																				0.554	C9orf152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053602.2	NM_001012993		29	54						29	54	---	---	---	---	-	112963662	CAGA	-	112963659	7	5	491	1	0	1	0	1	0	0	0	0	2463	835	29	0	434	0	C9orf152	9	112963659	Frame_Shift_Del	DEL	CAGA	TCGA-L6-A4EU-01A-11D-A257-08	38603325	112963659	28249772	38	10028											
NUP214	8021	broad.mit.edu	37	chr9	134021671	134021671	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttccgtgccattgaagtcctCagtcttgccctcaccatcag	7	15	4	1			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr9:134021671C>T	ENST00000359428.5	+	13	2069	c.1925C>T	c.(1924-1926)tCa>tTa	p.S642L	RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.S642L|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.S631L|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000589540.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	642	11 X 5 AA approximate repeats.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TTGAAGTCCTCAGTCTTGCCC	0.502			T	"DEK, SET, ABL1"	"AML, T-ALL"																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"DEK, SET, ABL1"		"AML, T-ALL"		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(1924-1926)tCa>tTa		nucleoporin 214kDa							323	273	290					9																	134021671		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134021671C>T	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"nuclear pore complex protein Nup214", "CAN protein, putative oncogene"	114350	"nucleoporin 214kD (CAIN)"			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.1925C>T	9.37:g.134021671C>T	ENSP00000352400:p.Ser642Leu					RP11-544A12.4_ENST00000586290.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.S642L|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.S631L|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA	p.S642L			P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	13	2069	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	642			11 X 5 AA approximate repeats.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.1925C>T	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476576	0.44044	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605	T;T;T	0.34859	1.36;1.36;1.34	4.76	4.76	0.60689	.	0.221431	0.23114	N	0.051769	T	0.20210	0.0486	N	0.08118	0	0.09310	N	1	P;B;B	0.40731	0.728;0.386;0.386	B;B;B	0.36666	0.23;0.178;0.178	T	0.13045	-1.0524	10	0.41790	T	0.15	-1.5901	14.6119	0.68522	0.0:1.0:0.0:0.0	.	235;631;642	Q5JUP9;P35658-4;P35658	.;.;NU214_HUMAN	L	642;631;642;631;235;71	ENSP00000352400:S642L;ENSP00000396576:S631L;ENSP00000405014:S642L	ENSP00000352400:S642L	S	+	2	0	NUP214	133011492	0.001000	0.12720	0.005000	0.12908	0.592000	0.36648	1.320000	0.33666	2.468000	0.83385	0.491000	0.48974	TCA		0.502	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		9	247	0	0	0	1	0	9	247					T	134021671	C	T	134021671	3	4	491	1	0	0	0	0	1	0	0	0	10762	838	29	2	1975	2	NUP214	9	134021671	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	21058012	134021671	7191760	39	10029											
BEND7	222389	broad.mit.edu	37	chr10	13541899	13541899	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	acaccacgtgaagacgggtgGaggctttgcggggcctcagc	16	11	1	2			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr10:13541899G>C	ENST00000396900.2	-	3	326	c.327C>G	c.(325-327)ctC>ctG	p.L109L	BEND7_ENST00000396898.2_Silent_p.L109L|BEND7_ENST00000378605.3_Silent_p.L57L|BEND7_ENST00000341083.3_Silent_p.L57L			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	109						extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						AAGACGGGTGGAGGCTTTGCG	0.562																																						ENST00000341083.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						c.(169-171)ctC>ctG		BEN domain containing 7							78	80	79					10																	13541899		2203	4300	6503	SO:0001819	synonymous_variant	222389						protein binding	g.chr10:13541899G>C	BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"BEN domain containing"	23514	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 30"	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.327C>G	10.37:g.13541899G>C						BEND7_ENST00000396898.2_Silent_p.L109L|BEND7_ENST00000396900.2_Silent_p.L109L|BEND7_ENST00000378605.3_Silent_p.L57L	p.L57L	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN			3	467	-			109					Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Silent	SNP	ENST00000396900.2	37	c.171C>G																																																																																					0.562	BEND7-202	KNOWN	basic	protein_coding	protein_coding		NM_152751		8	115	0	0	0	1	0	8	115					C	13541899	G	C	13541899	2	2	491	1	0	0	0	0	0	0	0	1	1403	1161	41	4		4	BEND7	10	13541899	Silent	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08		13541899	121992848	40	10030											
FRMD4A	55691	broad.mit.edu	37	chr10	13708199	13708199	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagtttcttcagtgcattcaGatacgaggttttcctttgtt	8	8	3	1			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr10:13708199G>A	ENST00000357447.2	-	18	1869	c.1501C>T	c.(1501-1503)Ctg>Ttg	p.L501L	FRMD4A_ENST00000378503.1_Silent_p.L501L|FRMD4A_ENST00000358621.4_Silent_p.L486L	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	501					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						AGTGCATTCAGATACGAGGTT	0.493																																						ENST00000357447.2																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(1501-1503)Ctg>Ttg		FERM domain containing 4A							129	128	128					10																	13708199		2203	4300	6503	SO:0001819	synonymous_variant	55691					cytoplasm|cytoskeleton	binding	g.chr10:13708199G>A	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"FERM domain containing 4"	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.1501C>T	10.37:g.13708199G>A						FRMD4A_ENST00000358621.4_Silent_p.L486L|FRMD4A_ENST00000378503.1_Silent_p.L501L	p.L501L	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN			18	1869	-			501					A7E2Y3|Q5T377	Silent	SNP	ENST00000357447.2	37	c.1501C>T	CCDS7101.1																																																																																				0.493	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		27	87	0	0	0	1	0	27	87					A	13708199	G	A	13708199	2	1	491	1	0	0	0	0	0	0	0	1	6051	933	33	2		2	FRMD4A	10	13708199	Silent	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08	166300	13708199	121826548	41	10031											
OPN4	94233	broad.mit.edu	37	chr10	88419672	88419672	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctctccagaccttcggggCctgcaagggcaatggcgagt	15	12	1	1			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr10:88419672C>A	ENST00000241891.5	+	6	988	c.821C>A	c.(820-822)gCc>gAc	p.A274D	OPN4_ENST00000372071.2_Missense_Mutation_p.A285D	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	274					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						ACCTTCGGGGCCTGCAAGGGC	0.637																																						ENST00000372071.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						c.(853-855)gCc>gAc		opsin 4							100	75	84					10																	88419672		2203	4300	6503	SO:0001583	missense	94233				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity	g.chr10:88419672C>A	AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"GPCR / Class A : Opsin receptors"	14449	protein-coding gene	gene with protein product	"melanopsin"	606665	"opsin 4 (melanopsin)"			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.821C>A	10.37:g.88419672C>A	ENSP00000241891:p.Ala274Asp					OPN4_ENST00000241891.5_Missense_Mutation_p.A274D	p.A285D	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN			7	1081	+			274					B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Missense_Mutation	SNP	ENST00000241891.5	37	c.854C>A	CCDS7376.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.193691	0.38707	.	.	ENSG00000122375	ENST00000372071;ENST00000241891;ENST00000443292	T;T;T	0.71934	-0.61;-0.61;-0.61	4.56	4.56	0.56223	GPCR, rhodopsin-like superfamily (1);	1.783920	0.02624	N	0.103535	T	0.78947	0.4364	M	0.84511	2.7	0.09310	N	0.999996	B;P;P	0.39862	0.27;0.475;0.692	B;B;B	0.39840	0.216;0.158;0.311	T	0.66626	-0.5876	10	0.48119	T	0.1	.	13.0628	0.59015	0.0:0.8243:0.1757:0.0	.	285;274;285	C9JWU6;Q9UHM6;Q9UHM6-2	.;OPN4_HUMAN;.	D	285;274;285	ENSP00000361141:A285D;ENSP00000241891:A274D;ENSP00000393132:A285D	ENSP00000241891:A274D	A	+	2	0	OPN4	88409652	0.946000	0.32159	0.999000	0.59377	0.692000	0.40212	1.363000	0.34159	2.378000	0.81104	0.650000	0.86243	GCC		0.637	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049158.2	NM_033282		5	61	1	0	0.000602214	1	0.000625156	5	61					A	88419672	C	A	88419672	3	1	491	1	0	0	0	0	1	0	0	0	10882	739	26	4	880	4	OPN4	10	88419672	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	74711473	88419672	47115075	42	10032											
TBC1D12	23232	broad.mit.edu	37	chr10	96162370	96162370	+	De_novo_Start_InFrame	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcggccgccacccacccccaGatggtgggtccggaggatgc	15	16	0	1			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr10:96162370G>A	ENST00000225235.4	+	0	110					NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12								Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCCACCCCCAGATGGTGGGTC	0.697																																						ENST00000225235.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20								TBC1 domain family, member 12							13	14	14					10																	96162370		1622	3714	5336			23232					intracellular	Rab GTPase activator activity	g.chr10:96162370G>A	AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794		10.37:g.96162370G>A								NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN			0	110	+		Colorectal(252;0.0429)						Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Translation_Start_Site	SNP	ENST00000225235.4	37		CCDS41553.1																																																																																				0.697	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2			6	27	0	0	0	1	0	6	27					A	96162370	G	A	96162370	1	1	491	1	0	1	0	0	0	0	0	0	15598	957	33	2		2	TBC1D12	10	96162370	De_novo_Start_InFrame	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08	7742698	96162370	39372377	43	10033											
C10orf62	414157	broad.mit.edu	37	chr10	99349675	99349675	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atgctgtgggttcagagaaaGaggagaagaaaggaaacctc	14	5	1	4			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr10:99349675G>C	ENST00000370640.3	+	1	226	c.21G>C	c.(19-21)aaG>aaC	p.K7N	HOGA1_ENST00000370647.4_Intron|PI4K2A_ENST00000370649.3_Intron|HOGA1_ENST00000370646.4_Intron|PI4K2A_ENST00000555577.1_Intron	NM_001009997.2	NP_001009997.2	Q5T681	CJ062_HUMAN	chromosome 10 open reading frame 62	7										endometrium(2)|kidney(1)|lung(1)	4		Colorectal(252;0.162)		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)		TTCAGAGAAAGAGGAGAAGAA	0.498																																						ENST00000370640.3																			0				endometrium(2)|kidney(1)|lung(1)	4						c.(19-21)aaG>aaC		chromosome 10 open reading frame 62							101	102	102					10																	99349675		2203	4300	6503	SO:0001583	missense	414157						protein binding	g.chr10:99349675G>C		CCDS31261.1	10q24.2	2012-05-31			ENSG00000203942	ENSG00000203942			23294	protein-coding gene	gene with protein product							Standard	NM_001009997		Approved	bA548K23.1	uc001koa.3	Q5T681	OTTHUMG00000018858	ENST00000370640.3:c.21G>C	10.37:g.99349675G>C	ENSP00000359674:p.Lys7Asn					HOGA1_ENST00000370646.4_Intron|PI4K2A_ENST00000555577.1_Intron|HOGA1_ENST00000370647.4_Intron|PI4K2A_ENST00000370649.3_Intron	p.K7N	NM_001009997.2	NP_001009997.2	Q5T681	CJ062_HUMAN		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)	1	226	+		Colorectal(252;0.162)	7					Q49A70|Q8N3Y6	Missense_Mutation	SNP	ENST00000370640.3	37	c.21G>C	CCDS31261.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.238002	0.39598	.	.	ENSG00000203942	ENST00000370640	T	0.55234	0.53	4.01	2.09	0.27110	.	0.155263	0.29760	U	0.011279	T	0.54159	0.1841	L	0.29908	0.895	0.80722	D	1	D	0.67145	0.996	D	0.68483	0.958	T	0.52449	-0.8574	10	0.72032	D	0.01	-22.5031	6.9497	0.24538	0.2272:0.0:0.7728:0.0	.	7	Q5T681	CJ062_HUMAN	N	7	ENSP00000359674:K7N	ENSP00000359674:K7N	K	+	3	2	C10orf62	99339665	0.984000	0.35163	0.504000	0.27639	0.580000	0.36256	0.514000	0.22786	0.264000	0.21851	0.453000	0.30009	AAG		0.498	C10orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049723.1	NM_001009997		5	88	0	0	0	1	0	5	88					C	99349675	G	C	99349675	3	2	491	1	0	0	0	0	1	0	0	0	1611	933	33	4	23	4	C10orf62	10	99349675	Missense_Mutation	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08	3187305	99349675	36185072	44	10034											
FAM53B	9679	broad.mit.edu	37	chr10	126312016	126312016	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagggggaagaggctcagggAccggggtcccagcgggggtc	21	9	1	1			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr10:126312016A>C	ENST00000337318.3	-	5	1275	c.1064T>G	c.(1063-1065)gTc>gGc	p.V355G	RP11-12J10.3_ENST00000494792.1_Intron|FAM53B_ENST00000392754.3_Missense_Mutation_p.V355G	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	355										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		AGGCTCAGGGACCGGGGTCCC	0.706																																						ENST00000337318.3																			0				cervix(1)|lung(5)|ovary(2)|pancreas(1)	9						c.(1063-1065)gTc>gGc		family with sequence similarity 53, member B							13	13	13					10																	126312016		2188	4278	6466	SO:0001583	missense	9679							g.chr10:126312016A>C	D50930	CCDS7641.1	10q26.13	2004-11-24	2004-11-24	2004-11-24	ENSG00000189319	ENSG00000189319			28968	protein-coding gene	gene with protein product			"KIAA0140"	KIAA0140		8590280	Standard	NM_014661		Approved	bA12J10.2	uc001lhv.1	Q14153	OTTHUMG00000019215	ENST00000337318.3:c.1064T>G	10.37:g.126312016A>C	ENSP00000338532:p.Val355Gly					RP11-12J10.3_ENST00000494792.1_Intron|FAM53B_ENST00000392754.3_Missense_Mutation_p.V355G	p.V355G	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)	5	1275	-		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)	355					D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Missense_Mutation	SNP	ENST00000337318.3	37	c.1064T>G	CCDS7641.1	.	.	.	.	.	.	.	.	.	.	A	1.879	-0.458415	0.04508	.	.	ENSG00000189319	ENST00000337318;ENST00000392754	.	.	.	5.18	1.56	0.23342	.	0.751657	0.12430	N	0.469651	T	0.28200	0.0696	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.18618	-1.0331	9	0.40728	T	0.16	-6.6267	5.5059	0.16854	0.6684:0.1604:0.1713:0.0	.	355	Q14153	FA53B_HUMAN	G	355	.	ENSP00000338532:V355G	V	-	2	0	FAM53B	126302006	0.972000	0.33761	0.001000	0.08648	0.349000	0.29174	1.981000	0.40628	0.461000	0.27071	0.533000	0.62120	GTC		0.706	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050879.1	NM_014661		13	11	0	0	0	1	0	13	11					C	126312016	A	C	126312016	3	2	491	1	0	0	0	0	1	0	0	0	5580	275	10	5	208	5	FAM53B	10	126312016	Missense_Mutation	SNP	A	TCGA-L6-A4EU-01A-11D-A257-08	26962341	126312016	9222731	45	10035											
SPRYD5	84767	broad.mit.edu	37	chr11	55658652	55658652	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	agagccaatagtcatatcttCctgtgtggagatttgagaag	11	6	2	3			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr11:55658652C>G	ENST00000449290.2	+	7	995	c.903C>G	c.(901-903)ttC>ttG	p.F301L	TRIM51_ENST00000244891.3_Missense_Mutation_p.F158L	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	301	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)										GTCATATCTTCCTGTGTGGAG	0.353																																						ENST00000449290.2																			0											c.(901-903)ttC>ttG		tripartite motif-containing 51							77	84	81					11																	55658652		2053	3911	5964	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55658652C>G	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.903C>G	11.37:g.55658652C>G	ENSP00000395086:p.Phe301Leu					TRIM51_ENST00000244891.3_Missense_Mutation_p.F158L	p.F301L	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN			7	995	+			301			B30.2/SPRY.		A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.903C>G		.	.	.	.	.	.	.	.	.	.	.	3.998	-0.003135	0.07773	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.04502	3.61;3.61	0.892	-1.78	0.07957	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.03520	0.0101	L	0.46819	1.47	0.23649	N	0.997208	B	0.09022	0.002	B	0.08055	0.003	T	0.48958	-0.8988	9	0.07644	T	0.81	.	3.6826	0.08316	0.0:0.5087:0.4913:0.0	.	301	Q9BSJ1	SPRY5_HUMAN	L	301;158	ENSP00000395086:F301L;ENSP00000244891:F158L	ENSP00000244891:F158L	F	+	3	2	SPRYD5	55415228	0.713000	0.27926	0.343000	0.25615	0.417000	0.31264	0.022000	0.13511	0.159000	0.19401	0.162000	0.16502	TTC		0.353	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		16	102	0	0	0	1	0	16	102					G	55658652	C	G	55658652	3	3	491	1	0	0	0	0	1	0	0	0	15110	854	30	4	925	4	SPRYD5	11	55658652	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08		55658652	79347864	46	10036											
SLCO1C1	53919	broad.mit.edu	37	chr12	20903757	20903757	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaagcattcccgcatctcaTtgctacagcatcccagattt	5	13	1	1	rs10841611	byFrequency	TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr12:20903757T>C	ENST00000266509.2	+	14	2284				SLCO1C1_ENST00000545102.1_Silent_p.H531H|SLCO1C1_ENST00000381552.1_Silent_p.H649H|SLCO1C1_ENST00000540354.1_Intron|SLCO1C1_ENST00000545604.1_Silent_p.H649H	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1						sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.H649H(1)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	CCGCATCTCATTGCTACAGCA	0.378													C|||	2391	0.477436	0.1952	0.5735	5008	,	,		16607	0.5913		0.504	False		,,,				2504	0.6462					ENST00000381552.1																			1	Substitution - coding silent(1)	p.H649H(1)	kidney(1)	NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(1945-1947)caT>caC		solute carrier organic anion transporter family, member 1C1		C	,,,	1072,3334	722.3+/-409.3	137,798,1268	115	105	108		1593,,1947,	0.4	0.0	12	dbSNP_120	108	4722,3878	544.0+/-384.5	1285,2152,863	no	coding-synonymous,intron,coding-synonymous,intron	SLCO1C1	NM_001145944.1,NM_001145945.1,NM_001145946.1,NM_017435.4	,,,	1422,2950,2131	CC,CT,TT		45.093,24.3305,44.5487	,,,	531/613,,649/731,	20903757	5794,7212	2203	4300	6503	SO:0001627	intron_variant	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20903757T>C	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"Solute carriers"	13819	protein-coding gene	gene with protein product		613389	"solute carrier family 21 (organic anion transporter), member 14"	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1916+31T>C	12.37:g.20903757T>C						SLCO1C1_ENST00000266509.2_Intron|SLCO1C1_ENST00000545102.1_Silent_p.H531H|SLCO1C1_ENST00000545604.1_Silent_p.H649H|SLCO1C1_ENST00000540354.1_Intron	p.H649H			Q9NYB5	SO1C1_HUMAN			14	2315	+	Esophageal squamous(101;0.149)		0					B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Silent	SNP	ENST00000266509.2	37	c.1947T>C	CCDS8683.1																																																																																				0.378	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		4	55	0	0	0	1	0	4	55					C	20903757	T	C	20903757	1	2	491	0	1	0	0	0	0	0	0	0	14725	1490	52	3		3	SLCO1C1	12	20903757	Intron	SNP	T	TCGA-L6-A4EU-01A-11D-A257-08		20903757	112948138	47	10037											
CBX5	23468	broad.mit.edu	37	chr12	54651351	54651351	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acttgtcccttaaccacgcgCctgtctagcaccttctccac	5	18	2	0			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr12:54651351C>A	ENST00000439541.2	-	2	209	c.84G>T	c.(82-84)agG>agT	p.R28S	CBX5_ENST00000550411.1_Missense_Mutation_p.R28S|RN7SL390P_ENST00000470634.2_RNA|CBX5_ENST00000209875.4_Missense_Mutation_p.R28S	NM_001127321.1	NP_001120793.1	P45973	CBX5_HUMAN	chromobox homolog 5	28	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				blood coagulation (GO:0007596)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	chromocenter (GO:0010369)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear heterochromatin (GO:0005720)|nuclear pericentric heterochromatin (GO:0031618)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|protein binding, bridging (GO:0030674)|repressing transcription factor binding (GO:0070491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						TAACCACGCGCCTGTCTAGCA	0.488																																					Colon(153;588 2459 18334 48613)	ENST00000209875.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						c.(82-84)agG>agT		chromobox homolog 5							178	154	162					12																	54651351		2203	4300	6503	SO:0001583	missense	23468				blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding	g.chr12:54651351C>A	U26311	CCDS8875.1	12q13.13	2010-07-06	2010-06-24		ENSG00000094916	ENSG00000094916			1555	protein-coding gene	gene with protein product	"HP1 alpha homolog (Drosophila)"	604478	"chromobox homolog 5 (Drosophila HP1 alpha)", "chromobox homolog 5 (HP1 alpha homolog, Drosophila)"			8663349	Standard	NM_012117		Approved	HP1Hs-alpha, HP1, HP1-ALPHA	uc001sfj.4	P45973		ENST00000439541.2:c.84G>T	12.37:g.54651351C>A	ENSP00000401009:p.Arg28Ser					CBX5_ENST00000439541.2_Missense_Mutation_p.R28S|CBX5_ENST00000550411.1_Missense_Mutation_p.R28S	p.R28S	NM_012117.2	NP_036249.1	P45973	CBX5_HUMAN			2	220	-			28			Chromo 1.		B2R8T9	Missense_Mutation	SNP	ENST00000439541.2	37	c.84G>T	CCDS8875.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.420968	0.42918	.	.	ENSG00000094916	ENST00000209875;ENST00000439541;ENST00000550489;ENST00000550411;ENST00000552562	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	5.65	1.58	0.23477	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	0.000000	0.85682	D	0.000000	T	0.69663	0.3136	L	0.35854	1.095	0.58432	D	0.999999	P;B	0.51449	0.945;0.447	D;B	0.66351	0.943;0.411	T	0.66392	-0.5935	10	0.52906	T	0.07	-13.7831	3.2693	0.06876	0.1772:0.4823:0.0:0.3405	.	28;28	G3V1X9;P45973	.;CBX5_HUMAN	S	28	ENSP00000209875:R28S;ENSP00000401009:R28S;ENSP00000449207:R28S;ENSP00000450190:R28S	ENSP00000209875:R28S	R	-	3	2	CBX5	52937618	0.788000	0.28762	1.000000	0.80357	0.619000	0.37552	-0.089000	0.11180	0.478000	0.27488	-0.137000	0.14449	AGG		0.488	CBX5-004	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000405468.1	NM_012117		41	63	1	0	4.40578e-31	1	4.75475e-31	41	63					A	54651351	C	A	54651351	3	1	491	1	0	0	0	0	1	0	0	0	2721	738	26	4	507	4	CBX5	12	54651351	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	33747594	54651351	79200544	48	10038											
ZFC3H1	196441	broad.mit.edu	37	chr12	72057031	72057031	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttcggacagtgagctcgaAggcatccgtacagaaggcgg	14	10	0	2			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr12:72057031A>C	ENST00000378743.3	-	1	718	c.360T>G	c.(358-360)ccT>ccG	p.P120P	ZFC3H1_ENST00000549407.1_5'UTR|ZFC3H1_ENST00000552037.1_Silent_p.P120P|THAP2_ENST00000547843.1_5'Flank|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000548100.1_Silent_p.P120P	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	120	Ser-rich.				RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GTGAGCTCGAAGGCATCCGTA	0.657																																						ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(358-360)ccT>ccG		zinc finger, C3H1-type containing							66	73	71					12																	72057031		1965	4141	6106	SO:0001819	synonymous_variant	196441				RNA processing	intracellular	metal ion binding	g.chr12:72057031A>C	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"Zinc finger, C3H1-type containing"	28328	protein-coding gene	gene with protein product			"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.360T>G	12.37:g.72057031A>C						ZFC3H1_ENST00000549407.1_5'UTR|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000552037.1_Silent_p.P120P|ZFC3H1_ENST00000548100.1_Silent_p.P120P	p.P120P	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			1	718	-			120			Ser-rich.		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Silent	SNP	ENST00000378743.3	37	c.360T>G	CCDS41813.1																																																																																				0.657	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		57	95	0	0	0	1	0	57	95					C	72057031	A	C	72057031	2	2	491	1	0	0	0	0	0	0	0	1	17630	59	3	5		5	ZFC3H1	12	72057031	Silent	SNP	A	TCGA-L6-A4EU-01A-11D-A257-08	17405680	72057031	61794864	49	10039											
GOLGA2B	55592	broad.mit.edu	37	chr12	100551837	100551837	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggctgaggcacctcctcctCctcctcactgtccatctcct	7	19	2	1			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr12:100551837C>T	ENST00000397112.4	-	0	1618				RN7SL176P_ENST00000580352.1_RNA|AC010203.1_ENST00000408843.1_RNA	NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						ACCTCCTCCTCCTCCTCACTG	0.632																																						ENST00000397112.4																			0				large_intestine(1)|lung(3)	4															86	62	70					12																	100551837		2203	4300	6503			0							g.chr12:100551837C>T																													12.37:g.100551837C>T								NR_036632.1						0	1618	-								Q9NSV2	RNA	SNP	ENST00000397112.4	37																																																																																						0.632	GOLGA2B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000396439.2			3	14	0	0	0	1	0	3	14					T	100551837	C	T	100551837	1	4	491	0	1	0	0	0	0	0	0	0	6553	864	30	2		2	GOLGA2B	12	100551837	RNA	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	28494806	100551837	33300058	50	10040											
MTERFD3	80298	broad.mit.edu	37	chr12	107372093	107372093	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaaagattctggaaactgctCtattaacttgattaactctt	6	7	3	2			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr12:107372093C>T	ENST00000552029.1	-	2	2468	c.400G>A	c.(400-402)Gag>Aag	p.E134K	MTERFD3_ENST00000240050.4_Missense_Mutation_p.E134K|C12orf23_ENST00000551237.1_Intron|MTERFD3_ENST00000392830.2_Missense_Mutation_p.E134K			Q49AM1	MTEF2_HUMAN		134					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	transcription regulatory region DNA binding (GO:0044212)			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						GGAAACTGCTCTATTAACTTG	0.403																																						ENST00000552029.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(400-402)Gag>Aag		MTERF domain containing 3							88	94	92					12																	107372093		2203	4300	6503	SO:0001583	missense	80298				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding	g.chr12:107372093C>T																												ENST00000552029.1:c.400G>A	12.37:g.107372093C>T	ENSP00000447651:p.Glu134Lys					MTERFD3_ENST00000240050.4_Missense_Mutation_p.E134K|C12orf23_ENST00000551237.1_Intron|MTERFD3_ENST00000392830.2_Missense_Mutation_p.E134K	p.E134K			Q49AM1	MTER3_HUMAN			2	2468	-			134					Q53HM2|Q9H4L6|Q9H7Y9	Missense_Mutation	SNP	ENST00000552029.1	37	c.400G>A	CCDS9111.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.860384	0.51482	.	.	ENSG00000120832	ENST00000392830;ENST00000240050;ENST00000552029;ENST00000548101	T;T;T;T	0.08546	3.08;3.08;3.08;3.08	5.95	4.12	0.48240	.	0.047014	0.85682	D	0.000000	T	0.09730	0.0239	M	0.71581	2.175	0.58432	D	0.999997	B	0.23442	0.085	B	0.23275	0.045	T	0.08086	-1.0739	10	0.09590	T	0.72	-0.9639	9.1621	0.37030	0.0:0.7465:0.122:0.1315	.	134	Q49AM1	MTER3_HUMAN	K	134	ENSP00000376575:E134K;ENSP00000240050:E134K;ENSP00000447651:E134K;ENSP00000448343:E134K	ENSP00000240050:E134K	E	-	1	0	MTERFD3	105896223	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.829000	0.55760	0.844000	0.35094	0.563000	0.77884	GAG		0.403	MTERFD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406835.1			45	85	0	0	0	1	0	45	85					T	107372093	C	T	107372093	3	4	491	1	0	0	0	0	1	0	0	0	9921	922	32	2	761	2	MTERFD3	12	107372093	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	6820256	107372093	26479802	51	10041											
EPSTI1	94240	broad.mit.edu	37	chr13	43462494	43462494	+	IGR	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggagaagccagtcactcctGactgcacggtcaagtgtgtg	13	10	2	2			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr13:43462494G>A	ENST00000398762.3	-	0	957				EPSTI1_ENST00000313640.7_Silent_p.V375V|EPSTI1_ENST00000313624.7_3'UTR			Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)									p.V375V(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		AGTCACTCCTGACTGCACGGT	0.418																																						ENST00000313640.7																			1	Substitution - coding silent(1)	p.V375V(1)	lung(1)	endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17						c.(1123-1125)gtC>gtT		epithelial stromal interaction 1 (breast)							77	73	75					13																	43462494		2203	4300	6503	SO:0001628	intergenic_variant	94240							g.chr13:43462494G>A	AF396928	CCDS9387.1, CCDS31964.1	13q13.3	2011-06-27			ENSG00000133106	ENSG00000133106			16465	protein-coding gene	gene with protein product	"epithelial stromal interaction protein 1"	607441				11991720	Standard	NM_033255		Approved	BRESI1, MGC29634	uc001uyw.2	Q96J88	OTTHUMG00000016814		13.37:g.43462494G>A						EPSTI1_ENST00000313624.7_3'UTR	p.V375V	NM_001002264.2	NP_001002264.1	Q96J88	ESIP1_HUMAN		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)	13	1189	-		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	0					Q8IVC7|Q8NDQ7	Silent	SNP	ENST00000398762.3	37	c.1125C>T	CCDS9387.1																																																																																				0.418	EPSTI1-010	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400321.1	NM_001002264		30	54	0	0	0	1	0	30	54					A	43462494	G	A	43462494	1	1	491	0	1	0	0	0	0	0	0	0	5198	1277	45	2		2	EPSTI1	13	43462494	IGR	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08		43462494	71707384	52	10042											
HMOX2	3163	broad.mit.edu	37	chr16	4557905	4557905	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagtgccccaaggctgcccaGaagtacgtggagcggatcca	13	13	0	1			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr16:4557905G>A	ENST00000570646.1	+	4	1001	c.396G>A	c.(394-396)caG>caA	p.Q132Q	HMOX2_ENST00000406590.2_Silent_p.Q132Q|HMOX2_ENST00000575120.1_Silent_p.Q103Q|HMOX2_ENST00000398595.3_Silent_p.Q132Q|HMOX2_ENST00000219700.6_Silent_p.Q132Q|HMOX2_ENST00000414777.1_Silent_p.Q132Q|HMOX2_ENST00000458134.3_Silent_p.Q132Q	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2	132					cellular iron ion homeostasis (GO:0006879)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|porphyrin-containing compound metabolic process (GO:0006778)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						AGGCTGCCCAGAAGTACGTGG	0.607																																						ENST00000570646.1																			0				endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(394-396)caG>caA		heme oxygenase (decycling) 2	NADH(DB00157)						51	50	50					16																	4557905		2197	4300	6497	SO:0001819	synonymous_variant	3163				cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport	endoplasmic reticulum membrane|microsome|plasma membrane	electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding	g.chr16:4557905G>A		CCDS10517.1, CCDS66931.1, CCDS73818.1	16p13.3	2008-02-05			ENSG00000103415	ENSG00000103415	1.14.99.3		5014	protein-coding gene	gene with protein product		141251				1575508	Standard	NM_002134		Approved	HO-2	uc002cwq.4	P30519	OTTHUMG00000129473	ENST00000570646.1:c.396G>A	16.37:g.4557905G>A						HMOX2_ENST00000575120.1_Silent_p.Q103Q|HMOX2_ENST00000398595.3_Silent_p.Q132Q|HMOX2_ENST00000414777.1_Silent_p.Q132Q|HMOX2_ENST00000458134.3_Silent_p.Q132Q|HMOX2_ENST00000406590.2_Silent_p.Q132Q|HMOX2_ENST00000219700.6_Silent_p.Q132Q	p.Q132Q	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN			4	1001	+			132					A8MT35|D3DUD5|I3L430|O60605	Silent	SNP	ENST00000570646.1	37	c.396G>A	CCDS10517.1																																																																																				0.607	HMOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251636.2			6	69	0	0	0	1	0	6	69					A	4557905	G	A	4557905	2	1	491	1	0	0	0	0	0	0	0	1	7244	933	33	2		2	HMOX2	16	4557905	Silent	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08		4557905	85796848	53	10043											
C16orf62	57020	broad.mit.edu	37	chr16	19711771	19711771	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catctgacggagctggccctCagactccctctgcaaacaag	9	15	3	2			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr16:19711771C>T	ENST00000251143.5	+	31	2877	c.2865C>T	c.(2863-2865)ctC>ctT	p.L955L	C16orf62_ENST00000438132.3_Silent_p.L1044L|C16orf62_ENST00000417362.2_Silent_p.L862L|C16orf62_ENST00000448695.1_Silent_p.L805L|C16orf62_ENST00000543152.1_Silent_p.L704L|C16orf62_ENST00000542263.1_Silent_p.L951L			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	955						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						AGCTGGCCCTCAGACTCCCTC	0.522																																						ENST00000438132.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						c.(3130-3132)ctC>ctT		chromosome 16 open reading frame 62							88	88	88					16																	19711771		2197	4300	6497	SO:0001819	synonymous_variant	57020					integral to membrane		g.chr16:19711771C>T		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.2865C>T	16.37:g.19711771C>T						C16orf62_ENST00000417362.2_Silent_p.L862L|C16orf62_ENST00000543152.1_Silent_p.L704L|C16orf62_ENST00000542263.1_Silent_p.L951L|C16orf62_ENST00000448695.1_Silent_p.L805L|C16orf62_ENST00000251143.5_Silent_p.L955L	p.L1044L	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN			31	3180	+			955					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Silent	SNP	ENST00000251143.5	37	c.3132C>T																																																																																					0.522	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		20	35	0	0	0	1	0	20	35					T	19711771	C	T	19711771	2	4	491	1	0	0	0	0	0	0	0	1	1825	813	29	2		2	C16orf62	16	19711771	Silent	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	15153866	19711771	70642982	54	10044											
NUP93	9688	broad.mit.edu	37	chr16	56782199	56782199	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgagctccttcagcaagctGaacagcttgctgctgagact	11	11	1	3	rs528073782		TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr16:56782199G>A	ENST00000308159.5	+	2	161	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K	NUP93_ENST00000569842.1_Missense_Mutation_p.E14K	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	14					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.E14K(3)		breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TCAGCAAGCTGAACAGCTTGC	0.517																																					Colon(33;610 796 1305 1705 38917)	ENST00000569842.1																			3	Substitution - Missense(3)	p.E14K(3)	breast(2)|upper_aerodigestive_tract(1)	breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(40-42)Gaa>Aaa		nucleoporin 93kDa							67	65	66					16																	56782199		2198	4300	6498	SO:0001583	missense	9688				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr16:56782199G>A	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.40G>A	16.37:g.56782199G>A	ENSP00000310668:p.Glu14Lys					NUP93_ENST00000308159.5_Missense_Mutation_p.E14K	p.E14K			Q8N1F7	NUP93_HUMAN			2	136	+			14					B3KPQ8|Q14705	Missense_Mutation	SNP	ENST00000308159.5	37	c.40G>A	CCDS10769.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428130	0.83667	.	.	ENSG00000102900	ENST00000308159	T	0.44083	0.93	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.37812	0.1017	L	0.39898	1.24	0.80722	D	1	B	0.15473	0.013	B	0.15484	0.013	T	0.22208	-1.0223	10	0.12103	T	0.63	-21.6196	20.8598	0.99761	0.0:0.0:1.0:0.0	.	14	Q8N1F7	NUP93_HUMAN	K	14	ENSP00000310668:E14K	ENSP00000310668:E14K	E	+	1	0	NUP93	55339700	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.685000	0.98661	2.937000	0.99478	0.650000	0.86243	GAA		0.517	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669		6	74	0	0	0	1	0	6	74					A	56782199	G	A	56782199	3	1	491	1	0	0	0	0	1	0	0	0	10772	1291	45	2	42	2	NUP93	16	56782199	Missense_Mutation	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08	37070428	56782199	33572554	55	10045											
ELMO3	1874	broad.mit.edu	37	chr16	67233140	67233140	+	IGR	DEL	C	C	-													gtctcggaaagggaggacctCctcgtccccaggggccccag							TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr16:67233140delC	ENST00000379378.3	+	0	2096				ELMO3_ENST00000477898.1_5'Flank|ELMO3_ENST00000393997.2_Frame_Shift_Del_p.P24fs|ELMO3_ENST00000360833.1_Frame_Shift_Del_p.P24fs	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding						blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		GGGAGGACCTCCTCGTCCCCA	0.701																																						ENST00000393997.2																			0				cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18						c.(70-72)ctfs		engulfment and cell motility 3							21	29	27					16																	67233140		2073	4194	6267	SO:0001628	intergenic_variant	79767				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding	g.chr16:67233140delC	BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975		16.37:g.67233140delC						ELMO3_ENST00000360833.1_Frame_Shift_Del_p.P24fs	p.P24fs	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)	1	127	+		Ovarian(137;0.0563)	0					A6NGR8|B5BU56|Q12991|Q15328	Frame_Shift_Del	DEL	ENST00000379378.3	37	c.70delC	CCDS32464.1																																																																																				0.701	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950		14	17						14	17	---	---	---	---	-	67233140	C	-	67233140	6	5	491	0	1	1	0	1	0	0	0	0	5067	855	30	0		0	ELMO3	16	67233140	IGR	DEL	C	TCGA-L6-A4EU-01A-11D-A257-08	10450941	67233140	23121613	56	10046											
ZFHX3	463	broad.mit.edu	37	chr16	72821420	72821420	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagcggcagactgcgaggtAgatgcggtgctaggatcggg	19	7	0	3			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr16:72821420A>C	ENST00000268489.5	-	10	11427	c.10755T>G	c.(10753-10755)tcT>tcG	p.S3585S	RP5-991G20.1_ENST00000563328.2_RNA|ZFHX3_ENST00000397992.5_Silent_p.S2671S|RP5-991G20.4_ENST00000569195.1_RNA|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3585					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)				ACTGCGAGGTAGATGCGGTGC	0.617																																						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.(10753-10755)tcT>tcG		zinc finger homeobox 3							273	211	232					16																	72821420		2198	4300	6498	SO:0001819	synonymous_variant	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.chr16:72821420A>C	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.10755T>G	16.37:g.72821420A>C						ZFHX3_ENST00000397992.5_Silent_p.S2671S	p.S3585S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11427	-		Ovarian(137;0.13)	3585					D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10755T>G	CCDS10908.1																																																																																				0.617	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		48	80	0	0	0	1	0	48	80					C	72821420	A	C	72821420	2	2	491	1	0	0	0	0	0	0	0	1	17631	407	15	5		5	ZFHX3	16	72821420	Silent	SNP	A	TCGA-L6-A4EU-01A-11D-A257-08	5588280	72821420	17533333	57	10047											
CLEC3A	10143	broad.mit.edu	37	chr16	78064504	78064504	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ctccaagactatggtaaaagGagcctgccaggtgtcaatga	11	9	1	2			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr16:78064504G>C	ENST00000575655.1	+	3	441	c.360G>C	c.(358-360)agG>agC	p.R120S	CLEC3A_ENST00000299642.4_Missense_Mutation_p.R129S|CLEC3A_ENST00000565808.1_3'UTR|RP11-281J9.2_ENST00000563114.1_RNA	NM_005752.4	NP_005743.4	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	120	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				skeletal system development (GO:0001501)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						ATGGTAAAAGGAGCCTGCCAG	0.488																																						ENST00000299642.4																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						c.(385-387)agG>agC		C-type lectin domain family 3, member A							88	76	80					16																	78064504		2198	4300	6498	SO:0001583	missense	10143				skeletal system development	extracellular region	sugar binding	g.chr16:78064504G>C	AF077345	CCDS10927.1, CCDS10927.2	16q23	2008-02-05	2005-02-09	2005-02-11	ENSG00000166509	ENSG00000166509		"C-type lectin domain containing"	2052	protein-coding gene	gene with protein product		613588	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 1 (cartilage-derived)"	CLECSF1		10524194	Standard	NM_001244755		Approved		uc002ffh.5	O75596	OTTHUMG00000137620	ENST00000575655.1:c.360G>C	16.37:g.78064504G>C	ENSP00000460682:p.Arg120Ser					CLEC3A_ENST00000575655.1_Missense_Mutation_p.R120S|CLEC3A_ENST00000565808.1_3'UTR|RP11-281J9.2_ENST00000563114.1_RNA	p.R129S	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN			3	472	+			120			C-type lectin.		B2R8C4|Q3SX91|Q6UXF5	Missense_Mutation	SNP	ENST00000575655.1	37	c.387G>C		.	.	.	.	.	.	.	.	.	.	G	15.04	2.716292	0.48622	.	.	ENSG00000166509	ENST00000299642	.	.	.	5.76	-1.09	0.09904	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.339762	0.36482	N	0.002561	T	0.28101	0.0693	N	0.17278	0.47	0.35676	D	0.813703	B	0.06786	0.001	B	0.06405	0.002	T	0.03095	-1.1073	9	0.72032	D	0.01	-5.4882	3.1475	0.06477	0.1839:0.3039:0.398:0.1142	.	120	O75596	CLC3A_HUMAN	S	120	.	ENSP00000299642:R120S	R	+	3	2	CLEC3A	76622005	1.000000	0.71417	0.714000	0.30535	0.959000	0.62525	1.339000	0.33885	-0.305000	0.08831	-0.284000	0.09977	AGG		0.488	CLEC3A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005752		36	167	0	0	0	1	0	36	167					C	78064504	G	C	78064504	3	2	491	1	0	0	0	0	1	0	0	0	3510	1165	41	4	370	4	CLEC3A	16	78064504	Missense_Mutation	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08	5243084	78064504	12290249	58	10048											
DSG4	147409	broad.mit.edu	37	chr18	28972184	28972184	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gattacaagcaattgatcttGatgaagaaggcactgataac	9	6	1	5			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr18:28972184G>C	ENST00000308128.4	+	8	1021	c.886G>C	c.(886-888)Gat>Cat	p.D296H	RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.D296H|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	296	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.		Missing (in HYPT6). {ECO:0000269|PubMed:12705872, ECO:0000269|PubMed:15191570}.		anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AATTGATCTTGATGAAGAAGG	0.358																																						ENST00000359747.4																			0				NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(886-888)Gat>Cat		desmoglein 4							129	127	128					18																	28972184		2203	4300	6503	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28972184G>C	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"Cadherins / Major cadherins"	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.886G>C	18.37:g.28972184G>C	ENSP00000311859:p.Asp296His					DSG4_ENST00000308128.4_Missense_Mutation_p.D296H|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA	p.D296H	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		8	915	+			296		Missing (in LAH1).	Cadherin 3.		A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.886G>C	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.623816	0.87460	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.74632	-0.86;-0.86	5.45	5.45	0.79879	Cadherin (4);Cadherin-like (1);	0.000000	0.35970	N	0.002865	D	0.93025	0.7780	H	0.99573	4.635	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95773	0.8810	10	0.87932	D	0	.	19.6414	0.95758	0.0:0.0:1.0:0.0	.	296;296	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	H	296	ENSP00000311859:D296H;ENSP00000352785:D296H	ENSP00000311859:D296H	D	+	1	0	DSG4	27226182	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	8.934000	0.92915	2.721000	0.93114	0.655000	0.94253	GAT		0.358	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		3	38	0	0	0	1	0	3	38					C	28972184	G	C	28972184	3	2	491	1	0	0	0	0	1	0	0	0	4779	1290	45	4	916	4	DSG4	18	28972184	Missense_Mutation	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08		28972184	49105064	59	10049											
ICAM1	3383	broad.mit.edu	37	chr19	10395858	10395858	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ataatgggcactgcaggcctCagcacgtacctctataaccg	9	13	2	0			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr19:10395858C>T	ENST00000264832.3	+	7	1819	c.1494C>T	c.(1492-1494)ctC>ctT	p.L498L	ICAM4_ENST00000340992.4_5'Flank|ICAM4_ENST00000380770.3_5'Flank|ICAM4_ENST00000393717.2_5'Flank|CTD-2369P2.8_ENST00000589379.1_RNA|CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Silent_p.L276L	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	498					adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	CTGCAGGCCTCAGCACGTACC	0.547																																						ENST00000264832.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1492-1494)ctC>ctT		intercellular adhesion molecule 1	Natalizumab(DB00108)|Simvastatin(DB00641)						103	105	105					19																	10395858		2203	4300	6503	SO:0001819	synonymous_variant	3383				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	g.chr19:10395858C>T		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	5344	protein-coding gene	gene with protein product	"human rhinovirus receptor"	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.1494C>T	19.37:g.10395858C>T						ICAM1_ENST00000423829.2_Silent_p.L276L	p.L498L	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		7	1819	+			498					B2R6M3|Q5NKV7|Q96B50	Silent	SNP	ENST00000264832.3	37	c.1494C>T	CCDS12231.1																																																																																				0.547	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			4	65	0	0	0	1	0	4	65					T	10395858	C	T	10395858	2	4	491	1	0	0	0	0	0	0	0	1	7479	813	29	2		2	ICAM1	19	10395858	Silent	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08		10395858	48733125	60	10050											
TMEM38A	79041	broad.mit.edu	37	chr19	16799102	16799102	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcggtggtgggccaggagctCagcattcggccatgcccgcc	16	14	1	0			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr19:16799102C>G	ENST00000187762.2	+	6	911	c.820C>G	c.(820-822)Cag>Gag	p.Q274E		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	274						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						GCCAGGAGCTCAGCATTCGGC	0.647																																						ENST00000187762.2																			0				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						c.(820-822)Cag>Gag		transmembrane protein 38A							65	67	66					19																	16799102		2203	4300	6503	SO:0001583	missense	79041					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr19:16799102C>G	AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954			28462	protein-coding gene	gene with protein product		611235				17611541	Standard	NM_024074		Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.820C>G	19.37:g.16799102C>G	ENSP00000187762:p.Gln274Glu						p.Q274E	NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN			6	911	+			274					A8K9P9	Missense_Mutation	SNP	ENST00000187762.2	37	c.820C>G	CCDS12349.1	.	.	.	.	.	.	.	.	.	.	c	1.386	-0.582102	0.03827	.	.	ENSG00000072954	ENST00000187762	.	.	.	4.17	1.97	0.26223	.	0.786063	0.11766	N	0.531636	T	0.22437	0.0541	N	0.22421	0.69	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.31052	-0.9957	9	0.02654	T	1	-0.05	6.8022	0.23758	0.0:0.7234:0.1769:0.0997	.	274	Q9H6F2	TM38A_HUMAN	E	274	.	ENSP00000187762:Q274E	Q	+	1	0	TMEM38A	16660102	0.001000	0.12720	0.001000	0.08648	0.176000	0.22953	0.833000	0.27504	0.243000	0.21327	0.561000	0.74099	CAG		0.647	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462841.1	NM_024074		8	170	0	0	0	1	0	8	170					G	16799102	C	G	16799102	3	3	491	1	0	0	0	0	1	0	0	0	16156	827	29	4	842	4	TMEM38A	19	16799102	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	6403244	16799102	42329881	61	10051											
ABHD8	79575	broad.mit.edu	37	chr19	17405126	17405126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctggtcttcctccaccgGcacaaacttatcgtgcatgc	9	15	1	0			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr19:17405126G>A	ENST00000247706.3	-	4	1359	c.1120C>T	c.(1120-1122)Ccg>Tcg	p.P374S	CTD-2278I10.4_ENST00000594077.1_RNA|MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	374							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						TCCTCCACCGGCACAAACTTA	0.672																																					Ovarian(156;1368 2543 15275 41187)	ENST00000247706.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						c.(1120-1122)Ccg>Tcg		abhydrolase domain containing 8							59	50	53					19																	17405126		2203	4300	6503	SO:0001583	missense	79575						hydrolase activity	g.chr19:17405126G>A	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"Abhydrolase domain containing"	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.1120C>T	19.37:g.17405126G>A	ENSP00000247706:p.Pro374Ser					MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	p.P374S	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN			4	1359	-			374					Q9HAE9	Missense_Mutation	SNP	ENST00000247706.3	37	c.1120C>T	CCDS12355.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273390	0.80580	.	.	ENSG00000127220	ENST00000247706;ENST00000544788	T	0.70516	-0.49	5.28	5.28	0.74379	Alpha/beta hydrolase fold-1 (1);	0.000000	0.85682	D	0.000000	T	0.72946	0.3524	L	0.46157	1.445	0.80722	D	1	P	0.46395	0.877	P	0.51016	0.656	T	0.69993	-0.4994	10	0.29301	T	0.29	-28.0008	16.4003	0.83639	0.0:0.0:1.0:0.0	.	374	Q96I13	ABHD8_HUMAN	S	374;320	ENSP00000247706:P374S	ENSP00000247706:P374S	P	-	1	0	ABHD8	17266126	1.000000	0.71417	0.996000	0.52242	0.529000	0.34654	9.385000	0.97223	2.470000	0.83445	0.655000	0.94253	CCG		0.672	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	NM_024527		4	78	0	0	0	1	0	4	78					A	17405126	G	A	17405126	3	1	491	1	0	0	0	0	1	0	0	0	87	1203	42	2	207	2	ABHD8	19	17405126	Missense_Mutation	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08	606024	17405126	41723857	62	10052											
SERTAD3	29946	broad.mit.edu	37	chr19	40947970	40947970	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccaaatcagagtgtttcctCttcaagcctcccaccatgat	5	14	3	2			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr19:40947970C>T	ENST00000322354.3	-	2	514	c.18G>A	c.(16-18)aaG>aaA	p.K6K	CTC-492K19.4_ENST00000599050.1_RNA|SERTAD3_ENST00000601217.1_5'Flank|SERTAD3_ENST00000392028.4_Silent_p.K6K	NM_203344.2	NP_976219.1	Q9UJW9	SRTD3_HUMAN	SERTA domain containing 3	6					negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(1)|large_intestine(4)|lung(2)	7			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGTGTTTCCTCTTCAAGCCTC	0.562																																						ENST00000322354.3																			0				kidney(1)|large_intestine(4)|lung(2)	7						c.(16-18)aaG>aaA		SERTA domain containing 3							22	20	20					19																	40947970		2203	4300	6503	SO:0001819	synonymous_variant	29946				negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr19:40947970C>T	AF192529	CCDS12558.1	19q13.2	2008-02-05				ENSG00000167565			17931	protein-coding gene	gene with protein product	"RPA-binding trans-activator"	612125				10982866, 11331592	Standard	NM_013368		Approved	RBT1	uc002onv.4	Q9UJW9		ENST00000322354.3:c.18G>A	19.37:g.40947970C>T						SERTAD3_ENST00000392028.4_Silent_p.K6K	p.K6K	NM_203344.2	NP_976219.1	Q9UJW9	SRTD3_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		2	514	-			6					B3KQB3|Q96CQ2	Silent	SNP	ENST00000322354.3	37	c.18G>A	CCDS12558.1																																																																																				0.562	SERTAD3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462573.1	NM_013368		15	19	0	0	0	1	0	15	19					T	40947970	C	T	40947970	2	4	491	1	0	0	0	0	0	0	0	1	14122	912	32	2		2	SERTAD3	19	40947970	Silent	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	23542844	40947970	18181013	63	10053											
RALGAPB	57148	broad.mit.edu	37	chr20	37153437	37153437	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctagattttacatgcttttaAttcaaggtttgcagataaat	6	5	1	2			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr20:37153437A>T	ENST00000262879.6	+	11	1920	c.1636A>T	c.(1636-1638)Att>Ttt	p.I546F	RALGAPB_ENST00000397038.1_Missense_Mutation_p.I324F|RALGAPB_ENST00000397040.1_Missense_Mutation_p.I546F|RALGAPB_ENST00000397042.3_Missense_Mutation_p.I546F|RALGAPB_ENST00000537204.1_Nonstop_Mutation_p.*478Y			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	546					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CATGCTTTTAATTCAAGGTTT	0.328																																						ENST00000537204.1																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(1432-1434)taA>taT		Ral GTPase activating protein, beta subunit (non-catalytic)							161	149	153					20																	37153437		2202	4300	6502	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37153437A>T	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"KIAA1219"	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1636A>T	20.37:g.37153437A>T	ENSP00000262879:p.Ile546Phe					RALGAPB_ENST00000397042.3_Missense_Mutation_p.I546F|RALGAPB_ENST00000397038.1_Missense_Mutation_p.I324F|RALGAPB_ENST00000262879.6_Missense_Mutation_p.I546F|RALGAPB_ENST00000397040.1_Missense_Mutation_p.I546F	p.*478Y			Q86X10	RLGPB_HUMAN			10	1684	+			0					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Nonstop_Mutation	SNP	ENST00000262879.6	37	c.1434A>T	CCDS13305.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.80|18.80	3.700221|3.700221	0.68501|0.68501	.|.	.|.	ENSG00000170471|ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490|ENST00000537204	T;T|.	0.65732|.	-0.17;-0.17|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.150888|.	0.64402|.	D|.	0.000019|.	T|.	0.44891|.	0.1315|.	N|N	0.25647|0.25647	0.755|0.755	0.58432|0.58432	D|D	0.999996|0.999996	P;P;P;P|.	0.41131|.	0.739;0.571;0.571;0.571|.	B;B;B;B|.	0.43728|.	0.429;0.395;0.395;0.395|.	T|.	0.37009|.	-0.9724|.	10|.	0.33940|.	T|.	0.23|.	.|.	9.8766|9.8766	0.41207|0.41207	0.9234:0.0:0.0766:0.0|0.9234:0.0:0.0766:0.0	.|.	374;546;546;546|.	A2A2F0;Q86X10-4;A2A2E9;Q86X10|.	.;.;.;RLGPB_HUMAN|.	F|Y	546;546;546;324;546;374|478	ENSP00000262879:I546F;ENSP00000380233:I546F|.	ENSP00000262879:I546F|.	I|X	+|+	1|3	0|2	RALGAPB|RALGAPB	36586851|36586851	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.529000|7.529000	0.81952|0.81952	2.035000|2.035000	0.60131|0.60131	0.459000|0.459000	0.35465|0.35465	ATT|TAA		0.328	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		42	53	0	0	0	1	0	42	53					T	37153437	A	T	37153437	3	4	491	1	0	0	0	0	1	0	0	0	13015	101	4	5	1674	5	RALGAPB	20	37153437	Missense_Mutation	SNP	A	TCGA-L6-A4EU-01A-11D-A257-08		37153437	25872083	64	10054											
THOC5	8563	broad.mit.edu	37	chr22	29915049	29915049	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggactgcaccctggtcttcaGaagtttcatggtggtctcca	11	11	4	1			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr22:29915049G>C	ENST00000490103.1	-	15	1557	c.1435C>G	c.(1435-1437)Ctg>Gtg	p.L479V	THOC5_ENST00000397871.1_Missense_Mutation_p.L479V|THOC5_ENST00000397872.1_Missense_Mutation_p.L479V|THOC5_ENST00000397873.2_Missense_Mutation_p.L479V|CTA-256D12.11_ENST00000411969.1_RNA	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	479					blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTGGTCTTCAGAAGTTTCATG	0.537																																						ENST00000490103.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1435-1437)Ctg>Gtg		THO complex 5							226	183	197					22																	29915049		2203	4300	6503	SO:0001583	missense	8563				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding	g.chr22:29915049G>C	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"THO complex subunits"	19074	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 79"	612733	"chromosome 22 open reading frame 19"	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.1435C>G	22.37:g.29915049G>C	ENSP00000420306:p.Leu479Val					THOC5_ENST00000397873.2_Missense_Mutation_p.L479V|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Missense_Mutation_p.L479V|THOC5_ENST00000397872.1_Missense_Mutation_p.L479V	p.L479V	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN			15	1557	-			479					O60839|Q9UPZ5	Missense_Mutation	SNP	ENST00000490103.1	37	c.1435C>G	CCDS13859.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.755654	0.69648	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	5.76	3.69	0.42338	.	0.000000	0.85682	D	0.000000	T	0.21674	0.0522	L	0.55103	1.725	0.80722	D	1	P	0.48503	0.911	B	0.40741	0.339	T	0.02352	-1.1172	10	0.62326	D	0.03	-13.9922	12.1911	0.54273	0.1369:0.0:0.8631:0.0	.	479	Q13769	THOC5_HUMAN	V	479	ENSP00000420306:L479V;ENSP00000380970:L479V;ENSP00000380969:L479V;ENSP00000380971:L479V	ENSP00000380969:L479V	L	-	1	2	THOC5	28245049	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	6.507000	0.73717	0.801000	0.34066	-0.768000	0.03414	CTG		0.537	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678		6	157	0	0	0	1	0	6	157					C	29915049	G	C	29915049	3	2	491	1	0	0	0	0	1	0	0	0	15865	933	33	4	640	4	THOC5	22	29915049	Missense_Mutation	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08		29915049	21389517	65	10055											
LARGE	9215	broad.mit.edu	37	chr22	34046477	34046477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggtcttggagtggttgcctCggcgatgggatggggctcgg	20	7	1	0			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr22:34046477C>T	ENST00000354992.2	-	4	855	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	LARGE_ENST00000402320.1_Missense_Mutation_p.R95Q|LARGE_ENST00000337431.2_Missense_Mutation_p.R95Q|LARGE_ENST00000437602.2_Missense_Mutation_p.R95Q|LARGE_ENST00000397394.2_Missense_Mutation_p.R95Q	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	95					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				GTGGTTGCCTCGGCGATGGGA	0.682																																					Colon(70;397 1175 4573 19089 45288)	ENST00000354992.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(283-285)cGa>cAa		like-glycosyltransferase							59	55	56					22																	34046477		2203	4300	6503	SO:0001583	missense	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:34046477C>T	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"Glycosyltransferase family 8 domain containing"	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.284G>A	22.37:g.34046477C>T	ENSP00000347088:p.Arg95Gln					LARGE_ENST00000462606.1_5'UTR|LARGE_ENST00000402320.1_Missense_Mutation_p.R95Q|LARGE_ENST00000437602.2_Missense_Mutation_p.R95Q|LARGE_ENST00000397394.2_Missense_Mutation_p.R95Q|LARGE_ENST00000337431.2_Missense_Mutation_p.R95Q	p.R95Q	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN			4	855	-		Lung NSC(1;0.219)	95					B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	ENST00000354992.2	37	c.284G>A	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.092381	0.55968	.	.	ENSG00000133424	ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000437602;ENST00000430220;ENST00000413114;ENST00000434071	T;T;T;T;T;T;T;T	0.51325	1.2;1.19;1.2;1.19;0.71;1.53;1.53;1.52	5.45	4.44	0.53790	.	0.188426	0.46145	D	0.000313	T	0.24967	0.0606	N	0.08118	0	0.80722	D	1	B;B;B	0.15473	0.013;0.009;0.013	B;B;B	0.12156	0.004;0.007;0.004	T	0.06534	-1.0821	10	0.15499	T	0.54	-4.4186	10.1789	0.42955	0.0:0.8488:0.0:0.1512	.	95;95;95	B7Z2I9;O95461-2;O95461	.;.;LARGE_HUMAN	Q	95	ENSP00000347088:R95Q;ENSP00000336636:R95Q;ENSP00000380549:R95Q;ENSP00000385223:R95Q;ENSP00000388544:R95Q;ENSP00000396277:R95Q;ENSP00000415546:R95Q;ENSP00000389605:R95Q	ENSP00000336636:R95Q	R	-	2	0	LARGE	32376477	0.468000	0.25839	0.837000	0.33122	0.937000	0.57800	0.856000	0.27818	1.296000	0.44742	0.563000	0.77884	CGA		0.682	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		8	120	0	0	0	1	0	8	120					T	34046477	C	T	34046477	3	4	491	1	0	0	0	0	1	0	0	0	8627	884	31	1	2038	1	LARGE	22	34046477	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	4131428	34046477	17258089	66	10056											
NUDT10	170685	broad.mit.edu	37	chrX	51076162	51076162	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gattcggttagcattgggagGaagcgagagtggttcaaagt	16	4	1	1			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chrX:51076162G>A	ENST00000376006.3	+	2	565	c.345G>A	c.(343-345)agG>agA	p.R115R	NUDT10_ENST00000356450.2_Silent_p.R115R	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	227					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					GCATTGGGAGGAAGCGAGAGT	0.532																																					NSCLC(90;1817 2035 37909 38249)	ENST00000376006.3																			0				cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(343-345)agG>agA		nudix (nucleoside diphosphate linked moiety X)-type motif 10							63	57	59					X																	51076162		2202	4279	6481	SO:0001819	synonymous_variant	170685					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51076162G>A	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"Nudix motif containing"	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.345G>A	X.37:g.51076162G>A						NUDT10_ENST00000356450.2_Silent_p.R115R	p.R115R	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN			2	565	+	Ovarian(276;0.236)		115			Nudix hydrolase.		Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	c.345G>A	CCDS35278.1																																																																																				0.532	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		12	107	0	0	0	1	0	12	107					A	51076162	G	A	51076162	2	1	491	1	0	0	0	0	0	0	0	1	10726	1165	41	2		2	NUDT10	23	51076162	Silent	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08		51076162	104194398	67	10057											
COL4A5	1287	broad.mit.edu	37	chrX	107834385	107834385	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaatttccattcctggaccTcctggacttgacggacagcc	10	13	0	1	rs104886109		TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chrX:107834385T>G	ENST00000361603.2	+	20	1507	c.1263T>G	c.(1261-1263)ccT>ccG	p.P421P	COL4A5_ENST00000328300.6_Silent_p.P421P	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	421	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TTCCTGGACCTCCTGGACTTG	0.557									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(1261-1263)ccT>ccG		collagen, type IV, alpha 5							75	78	77					X																	107834385		2203	4300	6503	SO:0001819	synonymous_variant	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107834385T>G	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.1263T>G	X.37:g.107834385T>G						COL4A5_ENST00000361603.2_Silent_p.P421P	p.P421P	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			20	1507	+			421			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	ENST00000361603.2	37	c.1263T>G	CCDS14543.1																																																																																				0.557	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			26	65	0	0	0	1	0	26	65					G	107834385	T	G	107834385	2	3	491	1	0	0	0	0	0	0	0	1	3694	1538	54	5		5	COL4A5	23	107834385	Silent	SNP	T	TCGA-L6-A4EU-01A-11D-A257-08	56758223	107834385	47436175	68	10058											
UBE2A	7319	broad.mit.edu	37	chrX	118708873	118708873	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcccgaaggttgcaggaGgatcctccagccggagtcag	13	12	2	0			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chrX:118708873G>A	ENST00000371558.2	+	2	228	c.54G>A	c.(52-54)gaG>gaA	p.E18E	UBE2A_ENST00000469205.1_3'UTR|UBE2A_ENST00000346330.3_Silent_p.E18E	NM_001282161.1|NM_003336.2|NM_181762.1	NP_001269090.1|NP_003327.2|NP_861427.1	P49459	UBE2A_HUMAN	ubiquitin-conjugating enzyme E2A	18					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|DNA repair (GO:0006281)|histone H2A ubiquitination (GO:0033522)|in utero embryonic development (GO:0001701)|maternal process involved in female pregnancy (GO:0060135)|positive regulation of cell proliferation (GO:0008284)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|response to UV (GO:0009411)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|cytosol (GO:0005829)|HULC complex (GO:0033503)|nuclear chromatin (GO:0000790)|XY body (GO:0001741)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)			haematopoietic_and_lymphoid_tissue(1)|lung(7)	8						GGTTGCAGGAGGATCCTCCAG	0.692								Rad6 pathway																														ENST00000371558.2																			0				haematopoietic_and_lymphoid_tissue(1)|lung(7)	8						c.(52-54)gaG>gaA	Rad6 pathway	ubiquitin-conjugating enzyme E2A							149	119	129					X																	118708873		2203	4300	6503	SO:0001819	synonymous_variant	7319				histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|response to UV|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chrX:118708873G>A	AK223045	CCDS14580.1, CCDS14581.1	Xq24	2011-05-19	2011-05-19		ENSG00000077721	ENSG00000077721		"Ubiquitin-conjugating enzymes E2"	12472	protein-coding gene	gene with protein product		312180	"ubiquitin-conjugating enzyme E2A (RAD6 homolog)"			1559696	Standard	NM_003336		Approved	UBC2, HHR6A, RAD6A	uc004erl.3	P49459	OTTHUMG00000022275	ENST00000371558.2:c.54G>A	X.37:g.118708873G>A						UBE2A_ENST00000469205.1_3'UTR|UBE2A_ENST00000346330.3_Silent_p.E18E	p.E18E	NM_003336.2|NM_181762.1	NP_003327.2|NP_861427.1	P49459	UBE2A_HUMAN			2	228	+			18					A6NFE9|A6NGR2|A6NMF5|B2R7R9|D3DWI1|Q4TTG1|Q96FX4	Silent	SNP	ENST00000371558.2	37	c.54G>A	CCDS14580.1																																																																																				0.692	UBE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058036.1	NM_003336		29	46	0	0	0	1	0	29	46					A	118708873	G	A	118708873	2	1	491	1	0	0	0	0	0	0	0	1	16841	991	35	2		2	UBE2A	23	118708873	Silent	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08	10874488	118708873	36561687	69	10059											
PTGER3	5733	broad.mit.edu	37	chr1	71512720	71512720	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcgagcacggccagccacaCgccgagcagcacagcgcggg	16	16	0	0	rs200372986	byFrequency	TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr1:71512720C>A	ENST00000306666.5	-	1	751	c.541G>T	c.(541-543)Gtg>Ttg	p.V181L	PTGER3_ENST00000414819.1_Missense_Mutation_p.V181L|PTGER3_ENST00000460330.1_Missense_Mutation_p.V181L|PTGER3_ENST00000354608.5_Missense_Mutation_p.V181L|PTGER3_ENST00000370932.2_Missense_Mutation_p.V181L|ZRANB2-AS1_ENST00000450461.1_RNA|PTGER3_ENST00000370924.4_Missense_Mutation_p.V181L|PTGER3_ENST00000370931.3_Missense_Mutation_p.V181L|PTGER3_ENST00000356595.4_Missense_Mutation_p.V181L|PTGER3_ENST00000351052.5_Missense_Mutation_p.V181L	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	181					cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	GCCAGCCACACGCCGAGCAGC	0.726																																						ENST00000370924.4																			0				endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(541-543)Gtg>Ttg		prostaglandin E receptor 3 (subtype EP3)	Bimatoprost(DB00905)						20	21	21					1																	71512720		2197	4286	6483	SO:0001583	missense	5733				cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity	g.chr1:71512720C>A	X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"GPCR / Class A : Prostanoid receptors"	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000306666.5:c.541G>T	1.37:g.71512720C>A	ENSP00000302313:p.Val181Leu					PTGER3_ENST00000460330.1_Missense_Mutation_p.V181L|PTGER3_ENST00000354608.5_Missense_Mutation_p.V181L|PTGER3_ENST00000356595.4_Missense_Mutation_p.V181L|PTGER3_ENST00000414819.1_Missense_Mutation_p.V181L|PTGER3_ENST00000370931.3_Missense_Mutation_p.V181L|PTGER3_ENST00000370932.2_Missense_Mutation_p.V181L|PTGER3_ENST00000306666.5_Missense_Mutation_p.V181L|PTGER3_ENST00000351052.5_Missense_Mutation_p.V181L	p.V181L	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN			1	771	-			181					B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Missense_Mutation	SNP	ENST00000306666.5	37	c.541G>T	CCDS657.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.726917	0.69074	.	.	ENSG00000050628	ENST00000370931;ENST00000370932;ENST00000351052;ENST00000460330;ENST00000370934;ENST00000354608;ENST00000356595;ENST00000414819;ENST00000306666;ENST00000370924	T;T;T;T;T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82	5.1	5.1	0.69264	GPCR, rhodopsin-like superfamily (1);	0.159254	0.52532	D	0.000072	T	0.68109	0.2965	L	0.31294	0.92	0.42436	D	0.992698	D;D;D;D;D;D;D;D	0.69078	0.985;0.985;0.969;0.992;0.997;0.981;0.981;0.985	P;P;P;P;D;P;P;P	0.67548	0.796;0.796;0.808;0.879;0.952;0.693;0.693;0.796	T	0.69120	-0.5229	10	0.37606	T	0.19	-34.5613	8.9338	0.35686	0.0:0.8329:0.0:0.1671	.	181;181;181;181;181;181;181;181	Q147U0;Q6TTN3;F5H821;B1AK19;Q147X8;P43115-3;P43115-4;P43115	.;.;.;.;.;.;.;PE2R3_HUMAN	L	181	ENSP00000359969:V181L;ENSP00000359970:V181L;ENSP00000280208:V181L;ENSP00000418073:V181L;ENSP00000346624:V181L;ENSP00000349003:V181L;ENSP00000401423:V181L;ENSP00000302313:V181L;ENSP00000359962:V181L	ENSP00000302313:V181L	V	-	1	0	PTGER3	71285308	0.990000	0.36364	0.956000	0.39512	0.981000	0.71138	1.165000	0.31822	2.643000	0.89663	0.462000	0.41574	GTG		0.726	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026076.1	NM_000957		4	50	1	0	0.014758	1	0.0153046	4	50					A	71512720	C	A	71512720	3	1	492	1	0	0	0	0	1	0	0	0	12744	536	19	4	950	4	PTGER3	1	71512720	Missense_Mutation	SNP	C	TCGA-MK-A4N6-01A-11D-A257-08		71512720	177737901	1	10060											
AKT3	10000	broad.mit.edu	37	chr1	243736307	243736307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaccatagaaacgtgtgCggtcctcagagaacacccgc	10	14	1	2			TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr1:243736307C>T	ENST00000366539.1	-	9	940	c.740G>A	c.(739-741)cGc>cAc	p.R247H	AKT3_ENST00000263826.5_Missense_Mutation_p.R247H|AKT3_ENST00000366540.1_Missense_Mutation_p.R247H|AKT3_ENST00000336199.5_Missense_Mutation_p.R247H			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	247	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitochondrial genome maintenance (GO:0000002)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			GAAACGTGTGCGGTCCTCAGA	0.418																																						ENST00000366539.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						c.(739-741)cGc>cAc		v-akt murine thymoma viral oncogene homolog 3							73	71	72					1																	243736307		2203	4300	6503	SO:0001583	missense	10000				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:243736307C>T	AF124141	CCDS31076.1, CCDS31077.1	1q44	2013-07-09	2013-07-09		ENSG00000117020	ENSG00000117020	2.7.11.1	"Pleckstrin homology (PH) domain containing"	393	protein-coding gene	gene with protein product	"protein kinase B, gamma"	611223				10092583, 10208883	Standard	NM_005465		Approved	PKBG, RAC-gamma, PRKBG	uc001iab.2	Q9Y243	OTTHUMG00000039994	ENST00000366539.1:c.740G>A	1.37:g.243736307C>T	ENSP00000355497:p.Arg247His					AKT3_ENST00000366540.1_Missense_Mutation_p.R247H|AKT3_ENST00000336199.5_Missense_Mutation_p.R247H|AKT3_ENST00000263826.5_Missense_Mutation_p.R247H	p.R247H			Q9Y243	AKT3_HUMAN	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)		9	940	-	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	247			Protein kinase.		Q0VAA6|Q5VTI1|Q5VTI2|Q96QV3|Q9UFP5	Missense_Mutation	SNP	ENST00000366539.1	37	c.740G>A	CCDS31077.1	.	.	.	.	.	.	.	.	.	.	C	34	5.395614	0.96009	.	.	ENSG00000117020	ENST00000336199;ENST00000366540;ENST00000366539;ENST00000263826	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.87	5.87	0.94306	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	0.85682	D	0.000000	T	0.66684	0.2814	N	0.17872	0.535	0.80722	D	1	D;D	0.69078	0.997;0.983	P;P	0.59825	0.864;0.634	T	0.70490	-0.4857	10	0.87932	D	0	.	20.206	0.98277	0.0:1.0:0.0:0.0	.	247;247	Q9Y243;Q9Y243-2	AKT3_HUMAN;.	H	247	ENSP00000336943:R247H;ENSP00000355498:R247H;ENSP00000355497:R247H;ENSP00000263826:R247H	ENSP00000263826:R247H	R	-	2	0	AKT3	241802930	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.785000	0.95823	0.655000	0.94253	CGC		0.418	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096479.1	NM_181690		3	29	0	0	0	1	0	3	29					T	243736307	C	T	243736307	3	4	492	1	0	0	0	0	1	0	0	0	481	768	27	1	771	1	AKT3	1	243736307	Missense_Mutation	SNP	C	TCGA-MK-A4N6-01A-11D-A257-08	172223587	243736307	5514314	2	10061											
SEL1L3	23231	broad.mit.edu	37	chr4	25769225	25769225	+	Frame_Shift_Del	DEL	C	C	-													aacacccaagtatctcctggCcaggtcctaaggggtaaagg							TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr4:25769225delC	ENST00000399878.3	-	19	2889	c.2767delG	c.(2767-2769)gccfs	p.A923fs	RP11-302F12.10_ENST00000510905.1_RNA|SEL1L3_ENST00000502949.1_Frame_Shift_Del_p.A770fs|SEL1L3_ENST00000264868.5_Frame_Shift_Del_p.A888fs	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	923						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TATCTCCTGGCCAGGTCCTAA	0.388																																						ENST00000399878.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						c.(2767-2769)ccfs		sel-1 suppressor of lin-12-like 3 (C. elegans)							77	69	72					4																	25769225		1852	4097	5949	SO:0001589	frameshift_variant	23231					integral to membrane	binding	g.chr4:25769225delC	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"KIAA0746 protein"					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.2767delG	4.37:g.25769225delC	ENSP00000382767:p.Ala923fs					SEL1L3_ENST00000502949.1_Frame_Shift_Del_p.A770fs|SEL1L3_ENST00000264868.5_Frame_Shift_Del_p.A888fs	p.A923fs	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN			19	2889	-			923					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Frame_Shift_Del	DEL	ENST00000399878.3	37	c.2767delG	CCDS47037.1																																																																																				0.388	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		2	4						2	4	---	---	---	---	-	25769225	C	-	25769225	7	5	492	1	0	1	0	1	0	0	0	0	14012	739	26	0	655	0	SEL1L3	4	25769225	Frame_Shift_Del	DEL	C	TCGA-MK-A4N6-01A-11D-A257-08		25769225	165385051	3	10062											
SLCO6A1	133482	broad.mit.edu	37	chr5	101794169	101794169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaaaatgaagctgtttacGtttcctagcttttatccgtg	7	7	0	1			TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr5:101794169G>A	ENST00000506729.1	-	6	1219	c.1048C>T	c.(1048-1050)Cgt>Tgt	p.R350C	SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R350C|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R288C			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	350						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AGCTGTTTACGTTTCCTAGCT	0.294																																						ENST00000506729.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1048-1050)Cgt>Tgt		solute carrier organic anion transporter family, member 6A1							133	131	132					5																	101794169		2201	4300	6501	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101794169G>A	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"Solute carriers"	23613	protein-coding gene	gene with protein product	"cancer/testis antigen 48"	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1048C>T	5.37:g.101794169G>A	ENSP00000421339:p.Arg350Cys					SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R288C|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R350C|SLCO6A1_ENST00000379810.1_Intron	p.R350C			Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	6	1219	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	350					A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.1048C>T	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	G	7.806	0.714760	0.15306	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019	T;T;T	0.81247	-1.47;-1.47;-1.47	4.3	-0.997	0.10215	Major facilitator superfamily domain, general substrate transporter (1);	2.743770	0.00789	N	0.001322	T	0.75191	0.3816	M	0.74258	2.255	0.09310	N	1	P;P	0.44044	0.825;0.735	B;B	0.35607	0.206;0.189	T	0.60969	-0.7157	10	0.54805	T	0.06	.	0.8993	0.01270	0.1862:0.1516:0.3518:0.3104	.	288;350	Q86UG4-2;Q86UG4	.;SO6A1_HUMAN	C	350;350;288	ENSP00000421339:R350C;ENSP00000369135:R350C;ENSP00000373671:R288C	ENSP00000369135:R350C	R	-	1	0	SLCO6A1	101822068	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.281000	0.08456	-0.205000	0.10219	-0.123000	0.14984	CGT		0.294	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		19	25	0	0	0	1	0	19	25					A	101794169	G	A	101794169	3	1	492	1	0	0	0	0	1	0	0	0	14732	1145	40	1	1143	1	SLCO6A1	5	101794169	Missense_Mutation	SNP	G	TCGA-MK-A4N6-01A-11D-A257-08		101794169	79121091	4	10063											
KIF4B	285643	broad.mit.edu	37	chr5	154395925	154395925	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcaggagtgctcagattgctGacctacagcagaagctgctg	12	10	2	3			TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr5:154395925G>A	ENST00000435029.4	+	1	2666	c.2506G>A	c.(2506-2508)Gac>Aac	p.D836N		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	836	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCAGATTGCTGACCTACAGCA	0.443																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(2506-2508)Gac>Aac		kinesin family member 4B							68	68	68					5																	154395925		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154395925G>A	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2506G>A	5.37:g.154395925G>A	ENSP00000387875:p.Asp836Asn						p.D836N	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	2666	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	836			Interaction with PRC1 (By similarity).			Missense_Mutation	SNP	ENST00000435029.4	37	c.2506G>A	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	g	18.66	3.671050	0.67814	.	.	ENSG00000226650	ENST00000435029	T	0.71934	-0.61	1.8	1.8	0.24995	.	.	.	.	.	T	0.82010	0.4944	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.82163	-0.0593	9	0.52906	T	0.07	.	9.5697	0.39420	0.0:0.0:1.0:0.0	.	836	Q2VIQ3	KIF4B_HUMAN	N	836	ENSP00000387875:D836N	ENSP00000387875:D836N	D	+	1	0	KIF4B	154376118	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.525000	0.60559	1.330000	0.45394	0.563000	0.77884	GAC		0.443	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			13	29	0	0	0	1	0	13	29					A	154395925	G	A	154395925	3	1	492	1	0	0	0	0	1	0	0	0	8304	1290	45	2	2508	2	KIF4B	5	154395925	Missense_Mutation	SNP	G	TCGA-MK-A4N6-01A-11D-A257-08	52601756	154395925	26519335	5	10064											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		27	44	0	0	0	1	0	27	44					T	140453136	A	T	140453136	3	4	492	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-MK-A4N6-01A-11D-A257-08		140453136	18685527	6	10065											
BMP1	649	broad.mit.edu	37	chr8	22054270	22054270	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggagtacccccccaacAagaactgcatctggcagctg	9	15	1	1			TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr8:22054270A>T	ENST00000306385.5	+	14	2513	c.1843A>T	c.(1843-1845)Aag>Tag	p.K615*	BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000306349.8_Nonsense_Mutation_p.K615*|BMP1_ENST00000397816.3_Nonsense_Mutation_p.K615*	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	615	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CCCCCCCAACAAGAACTGCAT	0.607																																						ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(1843-1845)Aag>Tag		bone morphogenetic protein 1							64	56	59					8																	22054270		2203	4300	6503	SO:0001587	stop_gained	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22054270A>T		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.1843A>T	8.37:g.22054270A>T	ENSP00000305714:p.Lys615*					BMP1_ENST00000306349.8_Nonsense_Mutation_p.K615*|BMP1_ENST00000397816.3_Nonsense_Mutation_p.K615*|BMP1_ENST00000354870.5_3'UTR	p.K615*	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	14	2513	+			615			CUB 3.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Nonsense_Mutation	SNP	ENST00000306385.5	37	c.1843A>T	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	A	37	6.586188	0.97684	.	.	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349	.	.	.	5.65	4.46	0.54185	.	0.176952	0.26623	U	0.023346	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8257	0.52265	0.853:0.147:0.0:0.0	.	.	.	.	X	615	.	ENSP00000306121:K615X	K	+	1	0	BMP1	22110215	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.332000	0.96446	0.940000	0.37473	0.379000	0.24179	AAG		0.607	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		13	23	0	0	0	1	0	13	23					T	22054270	A	T	22054270	4	4	492	1	0	0	0	0	0	1	0	0	1456	131	5	5	1897	5	BMP1	8	22054270	Nonsense_Mutation	SNP	A	TCGA-MK-A4N6-01A-11D-A257-08		22054270	124309752	7	10066											
CAMSAP1	157922	broad.mit.edu	37	chr9	138713459	138713459	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaggtcacattcattcacGtcgacaacctccccaacagt	6	14	3	0	rs117165081	byFrequency	TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr9:138713459G>A	ENST00000389532.4	-	11	3112	c.3048C>T	c.(3046-3048)gaC>gaT	p.D1016D	CAMSAP1_ENST00000409386.3_Silent_p.D1027D|CAMSAP1_ENST00000312405.6_Silent_p.D738D|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1016					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		ATTCATTCACGTCGACAACCT	0.512													G|||	28	0.00559105	0	0	5008	,	,		20132	0.0109		0	False		,,,				2504	0.0174					ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(3046-3048)gaC>gaT		calmodulin regulated spectrin-associated protein 1		G		1,4405	4.2+/-10.8	0,1,2202	78	65	69		3048	-7.2	0.0	9	dbSNP_132	69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CAMSAP1	NM_015447.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		1016/1603	138713459	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	157922					cytoplasm|microtubule		g.chr9:138713459G>A	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.3048C>T	9.37:g.138713459G>A						CAMSAP1_ENST00000312405.6_Silent_p.D738D|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Silent_p.D1027D	p.D1016D	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	11	3112	-			1016					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Silent	SNP	ENST00000389532.4	37	c.3048C>T	CCDS35176.2																																																																																				0.512	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		4	51	0	0	0	1	0	4	51					A	138713459	G	A	138713459	2	1	492	1	0	0	0	0	0	0	0	1	2611	1136	40	1		1	CAMSAP1	9	138713459	Silent	SNP	G	TCGA-MK-A4N6-01A-11D-A257-08		138713459	2499972	8	10067											
CREBZF	58487	broad.mit.edu	37	chr11	85375047	85375047	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctctgaagagcgaggtggtCagccgcagtcccacgccgct	13	14	2	2			TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr11:85375047C>T	ENST00000527447.1	-	1	1099	c.873G>A	c.(871-873)ctG>ctA	p.L291L	CREBZF_ENST00000398294.2_Silent_p.L209L|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	291					negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				GCGAGGTGGTCAGCCGCAGTC	0.652											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(172;674 2044 9050 18334 41735)	ENST00000527447.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(871-873)ctG>ctA		CREB/ATF bZIP transcription factor							40	46	44					11																	85375047		2057	4174	6231	SO:0001819	synonymous_variant	58487				negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:85375047C>T	AF039942	CCDS41697.1	11q14.1	2013-01-10			ENSG00000137504	ENSG00000137504		"basic leucine zipper proteins"	24905	protein-coding gene	gene with protein product	"Zhangfei"	606444				10871379	Standard	NM_001039618		Approved	ZF	uc001pas.2	Q9NS37	OTTHUMG00000133648	ENST00000527447.1:c.873G>A	11.37:g.85375047C>T			OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1236	CREBZF_ENST00000398294.2_Silent_p.L209L|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron	p.L291L	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN			1	1099	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	291					B2R8Q9|Q0P5U9|Q52LT3	Silent	SNP	ENST00000527447.1	37	c.873G>A	CCDS41697.1																																																																																				0.652	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390191.2	NM_001039618		8	112	0	0	0	1	0	8	112					T	85375047	C	T	85375047	2	4	492	1	0	0	0	0	0	0	0	1	3863	813	29	2		2	CREBZF	11	85375047	Silent	SNP	C	TCGA-MK-A4N6-01A-11D-A257-08		85375047	49631469	9	10068											
MLL	4297	broad.mit.edu	37	chr11	118374951	118374951	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggccacaaaaatgagccaAagatggataactgccattct	8	9	1	2			TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr11:118374951A>G	ENST00000389506.5	+	27	8335	c.8335A>G	c.(8335-8337)Aag>Gag	p.K2779E	KMT2A_ENST00000534358.1_Missense_Mutation_p.K2782E|KMT2A_ENST00000354520.4_Missense_Mutation_p.K2741E			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2779					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										AAATGAGCCAAAGATGGATAA	0.433																																						ENST00000534358.1																			0											c.(8344-8346)Aag>Gag		lysine (K)-specific methyltransferase 2A							92	91	91					11																	118374951		2200	4296	6496	SO:0001583	missense	4297							g.chr11:118374951A>G	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.8335A>G	11.37:g.118374951A>G	ENSP00000374157:p.Lys2779Glu					KMT2A_ENST00000389506.5_Missense_Mutation_p.K2779E|KMT2A_ENST00000354520.4_Missense_Mutation_p.K2741E	p.K2782E	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					27	8367	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.8344A>G	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	A	13.46	2.245271	0.39697	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.83075	-1.68;-1.68;-1.65	6.17	6.17	0.99709	.	0.049917	0.85682	D	0.000000	T	0.78104	0.4231	L	0.40543	1.245	0.50171	D	0.999855	B;B	0.33212	0.402;0.402	B;B	0.29267	0.1;0.1	T	0.78440	-0.2203	10	0.72032	D	0.01	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	2782;2779	E9PQG7;Q03164	.;MLL1_HUMAN	E	2782;2779;2741;1689	ENSP00000436786:K2782E;ENSP00000374157:K2779E;ENSP00000346516:K2741E	ENSP00000346516:K2741E	K	+	1	0	MLL	117880161	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.236000	0.58675	2.371000	0.80710	0.533000	0.62120	AAG		0.433	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		23	78	0	0	0	1	0	23	78					G	118374951	A	G	118374951	3	3	492	1	0	0	0	0	1	0	0	0	9620	15	1	3	8441	3	MLL	11	118374951	Missense_Mutation	SNP	A	TCGA-MK-A4N6-01A-11D-A257-08	32999904	118374951	16631565	10	10069											
KLHL26	55295	broad.mit.edu	37	chr19	18779952	18779952	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggcatcgtacaggtgtacaAcacggacaccgacgagtggg	15	10	0	0			TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr19:18779952A>T	ENST00000300976.4	+	3	1835	c.1745A>T	c.(1744-1746)aAc>aTc	p.N582I	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	582										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CAGGTGTACAACACGGACACC	0.657																																						ENST00000300976.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1744-1746)aAc>aTc		kelch-like family member 26							29	33	32					19																	18779952		2202	4297	6499	SO:0001583	missense	55295							g.chr19:18779952A>T		CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"Kelch-like", "BTB/POZ domain containing"	25623	protein-coding gene	gene with protein product			"kelch-like 26 (Drosophila)"				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.1745A>T	19.37:g.18779952A>T	ENSP00000300976:p.Asn582Ile					KLHL26_ENST00000599006.1_Intron	p.N582I	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN			3	1835	+			582					Q8TAP0|Q9NUX3	Missense_Mutation	SNP	ENST00000300976.4	37	c.1745A>T	CCDS12384.1	.	.	.	.	.	.	.	.	.	.	A	18.96	3.733238	0.69189	.	.	ENSG00000167487	ENST00000300976	T	0.80033	-1.33	4.34	4.34	0.51931	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.84866	0.5567	M	0.85462	2.755	0.80722	D	1	P	0.51240	0.943	P	0.48488	0.579	D	0.86569	0.1846	9	.	.	.	.	12.704	0.57049	1.0:0.0:0.0:0.0	.	582	Q53HC5	KLH26_HUMAN	I	582	ENSP00000300976:N582I	.	N	+	2	0	KLHL26	18640952	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.058000	0.93896	1.611000	0.50210	0.379000	0.24179	AAC		0.657	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1	NM_018316		17	36	0	0	0	1	0	17	36					T	18779952	A	T	18779952	3	4	492	1	0	0	0	0	1	0	0	0	8381	43	2	5	1755	5	KLHL26	19	18779952	Missense_Mutation	SNP	A	TCGA-MK-A4N6-01A-11D-A257-08		18779952	40349031	11	10070											
BACH1	571	broad.mit.edu	37	chr21	30714912	30714912	+	Frame_Shift_Del	DEL	A	A	-													ttttaatttctgaaaaagatAaaagtactcctgatggtgaa							TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr21:30714912delA	ENST00000399921.1	+	5	2212	c.1969delA	c.(1969-1971)aaafs	p.K657fs	BACH1_ENST00000286800.3_Frame_Shift_Del_p.K657fs	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0					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)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						TGAAAAAGATAAAAGTACTCC	0.443																																						ENST00000399921.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						c.(1969-1971)aafs		BTB and CNC homology 1, basic leucine zipper transcription factor 1							85	93	90					21																	30714912		2203	4300	6503	SO:0001589	frameshift_variant	571					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr21:30714912delA	AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"BTB/POZ domain containing", "basic leucine zipper proteins"	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.1969delA	21.37:g.30714912delA	ENSP00000382805:p.Lys657fs					BACH1_ENST00000286800.3_Frame_Shift_Del_p.K657fs	p.K657fs	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN			5	2212	+			657					Q3MJE2|Q8NCI5	Frame_Shift_Del	DEL	ENST00000399921.1	37	c.1969delA	CCDS13585.1																																																																																				0.443	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171974.1	NM_206866		20	61						20	61	---	---	---	---	-	30714912	A	-	30714912	7	5	492	1	0	1	0	1	0	0	0	0	1283	363	13	0	1983	0	BACH1	21	30714912	Frame_Shift_Del	DEL	A	TCGA-MK-A4N6-01A-11D-A257-08		30714912	17414983	12	10071											
ARHGAP8	23779	broad.mit.edu	37	chr22	45210582	45210582	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacttgaaggccctctacgtGgtgcaccccaccagcttcat	8	15	2	1			TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr22:45210582G>A	ENST00000389774.2	+	6	564	c.423G>A	c.(421-423)gtG>gtA	p.V141V	ARHGAP8_ENST00000336963.4_Silent_p.V110V|ARHGAP8_ENST00000356099.6_Silent_p.V110V|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.V241V|ARHGAP8_ENST00000389773.5_Silent_p.V232V|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.V320V|ARHGAP8_ENST00000517296.3_Silent_p.V320V	NM_001017526.1	NP_001017526.1	P85298	RHG08_HUMAN	Rho GTPase activating protein 8	141	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		CCCTCTACGTGGTGCACCCCA	0.577																																						ENST00000352766.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						c.(958-960)gtG>gtA									139	112	121					22																	45210582		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr22:45210582G>A	AF177331	CCDS14060.2, CCDS33664.1, CCDS56233.1	22q13.3	2010-05-11			ENSG00000241484	ENSG00000241484		"Rho GTPase activating proteins"	677	protein-coding gene	gene with protein product		609405				10591208	Standard	NM_001198726		Approved	FLJ20185, BPGAP1		P85298	OTTHUMG00000030234	ENST00000389774.2:c.423G>A	22.37:g.45210582G>A						ARHGAP8_ENST00000336963.4_Silent_p.V110V|ARHGAP8_ENST00000356099.6_Silent_p.V110V|ARHGAP8_ENST00000389774.2_Silent_p.V141V|ARHGAP8_ENST00000389773.5_Silent_p.V232V|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.V241V|ARHGAP8_ENST00000517296.3_Silent_p.V320V	p.V320V							10	960	+								A6ZJ79|A6ZJ80|O75983|O95695|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Silent	SNP	ENST00000389774.2	37	c.960G>A	CCDS33664.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.591634	0.28357	.	.	ENSG00000248405	ENST00000515632	.	.	.	4.43	-8.3	0.01005	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.0319	0.09713	0.0795:0.2529:0.1506:0.5169	.	.	.	.	X	164	.	.	W	+	2	0	PRR5-ARHGAP8	43589246	0.001000	0.12720	0.075000	0.20258	0.817000	0.46193	-1.531000	0.02219	-0.828000	0.04273	0.650000	0.86243	TGG		0.577	ARHGAP8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075088.4	NM_017701		7	68	0	0	0	1	0	7	68					A	45210582	G	A	45210582	2	1	492	1	0	0	0	0	0	0	0	1	888	1335	47	2		2	ARHGAP8	22	45210582	Silent	SNP	G	TCGA-MK-A4N6-01A-11D-A257-08		45210582	6093984	13	10072											
GLOD5	392465	broad.mit.edu	37	chrX	48631755	48631755	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtccctattgaggaggggccAgtccccagaacaggggcaaa	14	11	0	2			TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chrX:48631755A>G	ENST00000303227.6	+	4	428	c.387A>G	c.(385-387)ccA>ccG	p.P129P	GLOD5_ENST00000470676.1_3'UTR	NM_001080489.2	NP_001073958.2	A6NK44	GLOD5_HUMAN	glyoxalase domain containing 5	129										endometrium(1)|lung(2)	3						AGGAGGGGCCAGTCCCCAGAA	0.473																																						ENST00000303227.6																			0				endometrium(1)|lung(2)	3						c.(385-387)ccA>ccG		glyoxalase domain containing 5							94	86	89					X																	48631755		1890	4097	5987	SO:0001819	synonymous_variant	392465							g.chrX:48631755A>G		CCDS55410.1	Xp11.23	2008-02-05			ENSG00000171433	ENSG00000171433			33358	protein-coding gene	gene with protein product							Standard	NM_001080489		Approved		uc011mmh.2	A6NK44	OTTHUMG00000024125	ENST00000303227.6:c.387A>G	X.37:g.48631755A>G						GLOD5_ENST00000470676.1_3'UTR	p.P129P	NM_001080489.2	NP_001073958.2					4	428	+									Silent	SNP	ENST00000303227.6	37	c.387A>G	CCDS55410.1	.	.	.	.	.	.	.	.	.	.	a	9.930	1.214459	0.22289	.	.	ENSG00000171433	ENST00000445229	.	.	.	5.05	2.34	0.29019	.	.	.	.	.	T	0.45935	0.1367	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30937	-0.9961	4	.	.	.	.	3.1419	0.06458	0.5132:0.0:0.1047:0.3821	.	.	.	.	R	96	.	.	Q	+	2	0	GLOD5	48516699	0.502000	0.26107	0.979000	0.43373	0.897000	0.52465	-0.287000	0.08388	0.632000	0.30432	0.483000	0.47432	CAG		0.473	GLOD5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080489		16	11	0	0	0	1	0	16	11					G	48631755	A	G	48631755	2	3	492	1	0	0	0	0	0	0	0	1	6451	175	7	3		3	GLOD5	23	48631755	Silent	SNP	A	TCGA-MK-A4N6-01A-11D-A257-08		48631755	106638805	14	10073											
ACOT7	11332	broad.mit.edu	37	chr1	6341211	6341211	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttcctggctcagcgacacgTaggtgaagaaggcactggcg	14	11	1	2			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr1:6341211T>A	ENST00000377855.2	-	8	1141	c.995A>T	c.(994-996)tAc>tTc	p.Y332F	ACOT7_ENST00000608083.1_Missense_Mutation_p.Y290F|ACOT7_ENST00000545482.1_Missense_Mutation_p.Y217F|ACOT7_ENST00000377842.3_Missense_Mutation_p.Y281F|ACOT7_ENST00000361521.4_Missense_Mutation_p.Y322F|ACOT7_ENST00000377845.3_Missense_Mutation_p.Y302F	NM_181864.2	NP_863654.1	O00154	BACH_HUMAN	acyl-CoA thioesterase 7	332					coenzyme A biosynthetic process (GO:0015937)|fatty acid catabolic process (GO:0009062)|long-chain fatty-acyl-CoA catabolic process (GO:0036116)|medium-chain fatty acid biosynthetic process (GO:0051792)|medium-chain fatty-acyl-CoA catabolic process (GO:0036114)|palmitic acid biosynthetic process (GO:1900535)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)	carboxylic ester hydrolase activity (GO:0052689)|fatty-acyl-CoA binding (GO:0000062)|long-chain fatty acyl-CoA binding (GO:0036042)|palmitoyl-CoA hydrolase activity (GO:0016290)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		CAGCGACACGTAGGTGAAGAA	0.642											OREG0013034	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(74;673 1226 4974 11850 13190)	ENST00000361521.4																			0				kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16						c.(964-966)tAc>tTc		acyl-CoA thioesterase 7							62	54	57					1																	6341211		2203	4300	6503	SO:0001583	missense	11332					mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity	g.chr1:6341211T>A	AB074417	CCDS65.1, CCDS66.1, CCDS67.1, CCDS30573.1	1p36	2008-08-14			ENSG00000097021	ENSG00000097021		"Acyl CoA thioesterases"	24157	protein-coding gene	gene with protein product	"brain acyl CoA hydrolase"	602587				10578051, 16103133, 16940157	Standard	XM_005263427		Approved	BACH, ACH1, ACT, CTE-II, LACH1, MGC1126, hBACH	uc001amt.3	O00154	OTTHUMG00000001295	ENST00000377855.2:c.995A>T	1.37:g.6341211T>A	ENSP00000367086:p.Tyr332Phe		OREG0013034	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	633	ACOT7_ENST00000545482.1_Missense_Mutation_p.Y217F|ACOT7_ENST00000377845.3_Missense_Mutation_p.Y302F|ACOT7_ENST00000377842.3_Missense_Mutation_p.Y281F|ACOT7_ENST00000377855.2_Missense_Mutation_p.Y332F	p.Y322F	NM_007274.3	NP_009205.3	O00154	BACH_HUMAN		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)	8	1956	-	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)	332					A8K0K7|A8K232|A8K6B8|A8K837|B3KQ12|O43703|Q53Y78|Q5JYL2|Q5JYL3|Q5JYL4|Q5JYL5|Q5JYL6|Q5TGR4|Q9UJM9|Q9Y539|Q9Y540	Missense_Mutation	SNP	ENST00000377855.2	37	c.965A>T	CCDS65.1	.	.	.	.	.	.	.	.	.	.	T	7.326	0.618013	0.14129	.	.	ENSG00000097021	ENST00000377855;ENST00000377845;ENST00000377842;ENST00000361521;ENST00000545482	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23	4.69	4.69	0.59074	.	0.070963	0.64402	D	0.000016	T	0.17831	0.0428	N	0.08118	0	0.80722	D	1	B;B;B;B	0.20052	0.006;0.005;0.041;0.001	B;B;B;B	0.22152	0.007;0.005;0.038;0.007	T	0.06972	-1.0797	10	0.06099	T	0.92	.	13.3346	0.60509	0.0:0.0:0.0:1.0	.	322;332;302;281	B3KQ12;O00154;O00154-5;O00154-6	.;BACH_HUMAN;.;.	F	332;302;281;322;217	ENSP00000367086:Y332F;ENSP00000367076:Y302F;ENSP00000367073:Y281F;ENSP00000354615:Y322F;ENSP00000439218:Y217F	ENSP00000354615:Y322F	Y	-	2	0	ACOT7	6263798	1.000000	0.71417	0.994000	0.49952	0.742000	0.42306	3.805000	0.55575	1.744000	0.51775	0.459000	0.35465	TAC		0.642	ACOT7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003773.1	NM_007274		19	34	0	0	0	1	0	19	34					A	6341211	T	A	6341211	3	1	493	1	0	0	0	0	1	0	0	0	155	1638	57	5	155	5	ACOT7	1	6341211	Missense_Mutation	SNP	T	TCGA-MK-A4N7-01A-11D-A257-08		6341211	242909410	1	10074											
SIKE1	80143	broad.mit.edu	37	chr1	115321764	115321764	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttattcaaagtttcttactGcagagtgagactggtgagct	10	6	2	3			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr1:115321764G>A	ENST00000060969.5	-	3	476	c.407C>T	c.(406-408)gCa>gTa	p.A136V	SIKE1_ENST00000369528.5_Splice_Site_p.A140V|SIKE1_ENST00000506320.1_5'UTR			Q9BRV8	SIKE1_HUMAN	suppressor of IKBKE 1	136					innate immune response (GO:0045087)	cytosol (GO:0005829)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						GTTTCTTACTGCAGAGTGAGA	0.378																																						ENST00000369528.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						c.e3+1		suppressor of IKBKE 1							141	145	144					1																	115321764		2203	4300	6503	SO:0001630	splice_region_variant	80143					cytosol	protein binding	g.chr1:115321764G>A	AK024821	CCDS878.1, CCDS41371.1	1p13.1	2009-08-13			ENSG00000052723	ENSG00000052723			26119	protein-coding gene	gene with protein product	"suppressor of IKK epsilon"	611656				16281057	Standard	NM_025073		Approved	FLJ21168, SIKE	uc001efp.4	Q9BRV8	OTTHUMG00000012061	ENST00000060969.5:c.408+1C>T	1.37:g.115321764G>A						SIKE1_ENST00000060969.5_Splice_Site_p.A136_splice|SIKE1_ENST00000506320.1_5'UTR	p.A140_splice	NM_001102396.1|NM_025073.2	NP_001095866.1|NP_079349.2	Q9BRV8	SIKE1_HUMAN			3	496	-			136					Q5TEZ7|Q5TEZ9|Q68DZ4|Q9H778	Splice_Site	SNP	ENST00000060969.5	37	c.420_splice	CCDS878.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.646768	0.47258	.	.	ENSG00000052723	ENST00000369528;ENST00000060969	T;T	0.68903	-0.36;-0.36	6.17	5.09	0.68999	.	0.303964	0.40554	N	0.001061	T	0.22044	0.0531	N	0.02011	-0.69	0.80722	D	1	B;B	0.10296	0.002;0.003	B;B	0.08055	0.003;0.003	T	0.15665	-1.0429	10	0.45353	T	0.12	-7.7221	7.6281	0.28224	0.0751:0.1222:0.6771:0.1256	.	140;136	Q9BRV8-2;Q9BRV8	.;SIKE1_HUMAN	V	140;136	ENSP00000358541:A140V;ENSP00000060969:A136V	ENSP00000060969:A136V	A	-	2	0	SIKE1	115123287	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.913000	0.28611	2.941000	0.99782	0.655000	0.94253	GCA		0.378	SIKE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033401.1	NM_025073	Missense_Mutation	18	32	0	0	0	1	0	18	32					A	115321764	G	A	115321764	5	1	493	1	0	0	0	0	0	0	1	0	14320	1333	46	2	228	2	SIKE1	1	115321764	Splice_Site	SNP	G	TCGA-MK-A4N7-01A-11D-A257-08	108980553	115321764	133928857	2	10075											
MYT1L	23040	broad.mit.edu	37	chr2	1915828	1915828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgctgttgacatgcccgCgccccgtgcagcccggagtg	14	14	0	1			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr2:1915828C>T	ENST00000399161.2	-	12	2420	c.1673G>A	c.(1672-1674)cGc>cAc	p.R558H	MYT1L_ENST00000428368.2_Missense_Mutation_p.R556H	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	558					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GACATGCCCGCGCCCCGTGCA	0.597																																						ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(1672-1674)cGc>cAc		myelin transcription factor 1-like							45	48	47					2																	1915828		2055	4221	6276	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1915828C>T	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1673G>A	2.37:g.1915828C>T	ENSP00000382114:p.Arg558His					MYT1L_ENST00000428368.2_Missense_Mutation_p.R556H	p.R558H	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	12	2420	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	558					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.1673G>A		.	.	.	.	.	.	.	.	.	.	C	32	5.109976	0.94292	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.57107	0.43;0.42	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.72020	0.3409	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.73380	0.98;0.966	T	0.74463	-0.3657	10	0.72032	D	0.01	-14.8821	19.1783	0.93612	0.0:1.0:0.0:0.0	.	558;556	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	H	558;504;556	ENSP00000382114:R558H;ENSP00000396103:R556H	ENSP00000295067:R504H	R	-	2	0	MYT1L	1894835	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.677000	0.84024	2.595000	0.87683	0.561000	0.74099	CGC		0.597	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		10	9	0	0	0	1	0	10	9					T	1915828	C	T	1915828	3	4	493	1	0	0	0	0	1	0	0	0	10107	768	27	1	1943	1	MYT1L	2	1915828	Missense_Mutation	SNP	C	TCGA-MK-A4N7-01A-11D-A257-08		1915828	241283545	3	10076											
MAP2	4133	broad.mit.edu	37	chr2	210559316	210559316	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcatggcacctgaccttcctGaaatgctagatctggcaggc	10	12	2	3			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr2:210559316G>T	ENST00000360351.4	+	7	2928	c.2422G>T	c.(2422-2424)Gaa>Taa	p.E808*	MAP2_ENST00000447185.1_Nonsense_Mutation_p.E804*|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	808					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TGACCTTCCTGAAATGCTAGA	0.463																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(2422-2424)Gaa>Taa		microtubule-associated protein 2	Estramustine(DB01196)						126	126	126					2																	210559316		2203	4300	6503	SO:0001587	stop_gained	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210559316G>T		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2422G>T	2.37:g.210559316G>T	ENSP00000353508:p.Glu808*					MAP2_ENST00000447185.1_Nonsense_Mutation_p.E804*|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron	p.E808*	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	2928	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	808					Q17S04|Q8IUX2|Q99975|Q99976	Nonsense_Mutation	SNP	ENST00000360351.4	37	c.2422G>T	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	37	6.075465	0.97262	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	.	.	.	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.9119	20.0413	0.97592	0.0:0.0:1.0:0.0	.	.	.	.	X	808;804	.	ENSP00000353508:E808X	E	+	1	0	MAP2	210267561	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	7.403000	0.79983	2.751000	0.94390	0.650000	0.86243	GAA		0.463	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		11	100	1	0	2.27111e-07	1	2.27111e-07	11	100					T	210559316	G	T	210559316	4	4	493	1	0	0	0	0	0	1	0	0	9235	1291	45	4	2436	4	MAP2	2	210559316	Nonsense_Mutation	SNP	G	TCGA-MK-A4N7-01A-11D-A257-08	208643488	210559316	32640057	4	10077											
FBXL5	26234	broad.mit.edu	37	chr4	15629584	15629584	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caacatatggtagaacgttaTgaattaagccatggagtaaa	9	5	0	2			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr4:15629584T>C	ENST00000341285.3	-	7	1089	c.965A>G	c.(964-966)cAt>cGt	p.H322R	FBXL5_ENST00000412094.2_Missense_Mutation_p.H305R|FBXL5_ENST00000382358.4_Missense_Mutation_p.H196R	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	322					iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						TAGAACGTTATGAATTAAGCC	0.348																																						ENST00000341285.3																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(964-966)cAt>cGt		F-box and leucine-rich repeat protein 5							117	109	112					4																	15629584		2202	4300	6502	SO:0001583	missense	26234				iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity	g.chr4:15629584T>C	AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"F-boxes / Leucine-rich repeats"	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.965A>G	4.37:g.15629584T>C	ENSP00000344866:p.His322Arg					FBXL5_ENST00000412094.2_Missense_Mutation_p.H305R|FBXL5_ENST00000382358.4_Missense_Mutation_p.H196R	p.H322R	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN			7	1089	-			322					A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Missense_Mutation	SNP	ENST00000341285.3	37	c.965A>G	CCDS3415.1	.	.	.	.	.	.	.	.	.	.	T	13.71	2.317350	0.40996	.	.	ENSG00000118564	ENST00000341285;ENST00000412094;ENST00000382358	T;T;T	0.29397	1.58;1.59;1.57	5.63	5.63	0.86233	.	0.144117	0.64402	D	0.000005	T	0.26484	0.0647	L	0.34521	1.04	0.58432	D	0.999999	B;B	0.26845	0.161;0.1	B;B	0.32864	0.154;0.073	T	0.06826	-1.0805	10	0.17832	T	0.49	-19.615	14.4046	0.67073	0.0:0.0:0.0:1.0	.	305;322	Q9UKA1-2;Q9UKA1	.;FBXL5_HUMAN	R	322;305;196	ENSP00000344866:H322R;ENSP00000408679:H305R;ENSP00000371795:H196R	ENSP00000344866:H322R	H	-	2	0	FBXL5	15238682	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.175000	0.77632	2.138000	0.66242	0.377000	0.23210	CAT		0.348	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214235.2			9	10	0	0	0	1	0	9	10					C	15629584	T	C	15629584	3	2	493	1	0	0	0	0	1	0	0	0	5722	1464	51	3	1130	3	FBXL5	4	15629584	Missense_Mutation	SNP	T	TCGA-MK-A4N7-01A-11D-A257-08		15629584	175524692	5	10078											
AKAP12	9590	broad.mit.edu	37	chr6	151671522	151671522	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagcgtggaagagccaaagCcggaagaaccaaagcgcaag	15	9	0	2			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr6:151671522C>A	ENST00000253332.1	+	3	2185	c.1996C>A	c.(1996-1998)Ccg>Acg	p.P666T	AKAP12_ENST00000402676.2_Missense_Mutation_p.P666T|AKAP12_ENST00000354675.6_Missense_Mutation_p.P568T|AKAP12_ENST00000359755.5_Missense_Mutation_p.P561T			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	666					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGAGCCAAAGCCGGAAGAACC	0.493																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(1996-1998)Ccg>Acg		A kinase (PRKA) anchor protein 12							84	81	82					6																	151671522		2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151671522C>A	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"A-kinase anchor proteins"	370	protein-coding gene	gene with protein product	"gravin", "Src-Suppressed C Kinase Substrate"	604698	"A kinase (PRKA) anchor protein (gravin) 12"			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.1996C>A	6.37:g.151671522C>A	ENSP00000253332:p.Pro666Thr					AKAP12_ENST00000359755.5_Missense_Mutation_p.P561T|AKAP12_ENST00000253332.1_Missense_Mutation_p.P666T|AKAP12_ENST00000354675.6_Missense_Mutation_p.P568T	p.P666T	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	2236	+		Ovarian(120;0.125)	666					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.1996C>A	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	C	6.497	0.459964	0.12342	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.05649	3.41;3.41;3.42;3.42	5.31	2.1	0.27182	.	0.195349	0.25651	N	0.029205	T	0.01061	0.0035	N	0.25890	0.77	0.24255	N	0.995306	B;B;B	0.33940	0.394;0.433;0.307	B;B;B	0.27887	0.068;0.084;0.038	T	0.48822	-0.9001	10	0.21014	T	0.42	.	4.9784	0.14153	0.1448:0.6038:0.1034:0.148	.	561;568;666	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	T	666;666;568;561	ENSP00000384537:P666T;ENSP00000253332:P666T;ENSP00000346702:P568T;ENSP00000352794:P561T	ENSP00000253332:P666T	P	+	1	0	AKAP12	151713215	0.786000	0.28738	0.039000	0.18376	0.137000	0.21094	0.007000	0.13174	0.565000	0.29255	0.650000	0.86243	CCG		0.493	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			17	40	1	0	9.16793e-09	1	9.39713e-09	17	40					A	151671522	C	A	151671522	3	1	493	1	0	0	0	0	1	0	0	0	448	739	26	4	2035	4	AKAP12	6	151671522	Missense_Mutation	SNP	C	TCGA-MK-A4N7-01A-11D-A257-08		151671522	19443545	6	10079											
RELN	5649	broad.mit.edu	37	chr7	103202062	103202062	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accatacacttcaggccaaaGgtcaggatgtaaattcccat	7	11	2	0			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr7:103202062G>T	ENST00000428762.1	-	36	5605	c.5446C>A	c.(5446-5448)Ctt>Att	p.L1816I	RELN_ENST00000343529.5_Missense_Mutation_p.L1816I|RELN_ENST00000424685.2_Missense_Mutation_p.L1816I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1816					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)		TCAGGCCAAAGGTCAGGATGT	0.443																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			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.(5446-5448)Ctt>Att		reelin							111	109	110					7																	103202062		2203	4300	6503	SO:0001583	missense	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.chr7:103202062G>T		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.5446C>A	7.37:g.103202062G>T	ENSP00000392423:p.Leu1816Ile					RELN_ENST00000343529.5_Missense_Mutation_p.L1816I|RELN_ENST00000428762.1_Missense_Mutation_p.L1816I	p.L1816I			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	36	5605	-			1816					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.5446C>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234325	0.58886	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.24723	1.84;1.84;1.84	5.86	4.98	0.66077	Neuraminidase (1);	0.200755	0.44902	N	0.000402	T	0.45458	0.1343	L	0.50333	1.59	0.36883	D	0.889511	P;D	0.59767	0.868;0.986	P;D	0.70227	0.57;0.968	T	0.52518	-0.8565	10	0.48119	T	0.1	.	16.4028	0.83647	0.0:0.0:0.8671:0.1329	.	1816;1816	P78509-2;P78509	.;RELN_HUMAN	I	1816	ENSP00000392423:L1816I;ENSP00000345694:L1816I;ENSP00000388446:L1816I	ENSP00000345694:L1816I	L	-	1	0	RELN	102989298	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	5.602000	0.67612	1.475000	0.48197	0.563000	0.77884	CTT		0.443	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		12	32	1	0	5.16669e-11	1	5.43164e-11	12	32					T	103202062	G	T	103202062	3	4	493	1	0	0	0	0	1	0	0	0	13220	1000	35	4	5056	4	RELN	7	103202062	Missense_Mutation	SNP	G	TCGA-MK-A4N7-01A-11D-A257-08		103202062	55936601	7	10080											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		12	20	0	0	0	1	0	12	20					T	140453136	A	T	140453136	3	4	493	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-MK-A4N7-01A-11D-A257-08	37251074	140453136	18685527	8	10081											
LOXL2	4017	broad.mit.edu	37	chr8	23167321	23167321	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtctgcgcggctgaggccgaGaggcagttctcctccatggc	15	13	2	2			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr8:23167321G>A	ENST00000389131.3	-	10	2109	c.1740C>T	c.(1738-1740)ctC>ctT	p.L580L		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	580	Lysyl-oxidase like.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CTGAGGCCGAGAGGCAGTTCT	0.652																																						ENST00000389131.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1738-1740)ctC>ctT		lysyl oxidase-like 2							46	42	44					8																	23167321		2203	4300	6503	SO:0001819	synonymous_variant	4017				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	g.chr8:23167321G>A	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.1740C>T	8.37:g.23167321G>A							p.L580L	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)	10	2109	-		Prostate(55;0.0453)|Breast(100;0.143)	580			Lysyl-oxidase like.		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Silent	SNP	ENST00000389131.3	37	c.1740C>T	CCDS34864.1																																																																																				0.652	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			4	41	0	0	0	1	0	4	41					A	23167321	G	A	23167321	2	1	493	1	0	0	0	0	0	0	0	1	8900	929	33	2		2	LOXL2	8	23167321	Silent	SNP	G	TCGA-MK-A4N7-01A-11D-A257-08		23167321	123196701	9	10082											
PPAPDC2	403313	broad.mit.edu	37	chr9	4662753	4662753	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcgggagagagctcgtcGtggggcagcgtgcgacccct	18	12	0	1			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr9:4662753G>C	ENST00000381883.2	+	1	456	c.378G>C	c.(376-378)tcG>tcC	p.S126S	SPATA6L_ENST00000454239.2_Intron|SPATA6L_ENST00000381895.5_Intron|SPATA6L_ENST00000475086.1_Intron|SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000223517.5_Intron	NM_203453.3	NP_982278.3	Q8IY26	PPAC2_HUMAN	phosphatidic acid phosphatase type 2 domain containing 2	126						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(2)|lung(1)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.026)		AGAGCTCGTCGTGGGGCAGCG	0.657											OREG0019084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(187;1057 3809 8526)	ENST00000381883.2																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(376-378)tcG>tcC		phosphatidic acid phosphatase type 2 domain containing 2							49	48	48					9																	4662753		2203	4300	6503	SO:0001819	synonymous_variant	403313					integral to membrane	hydrolase activity	g.chr9:4662753G>C	AK128369	CCDS34981.1	9p24	2010-04-23			ENSG00000205808	ENSG00000205808			23682	protein-coding gene	gene with protein product	"polyisoprenoid diphosphate phosphatase type 1"	611666				16464866	Standard	NM_203453		Approved	FLJ90191, FLJ46512, PDP1	uc003zin.4	Q8IY26	OTTHUMG00000019466	ENST00000381883.2:c.378G>C	9.37:g.4662753G>C			OREG0019084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	620	SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000381895.5_Intron|SPATA6L_ENST00000475086.1_Intron|SPATA6L_ENST00000454239.2_Intron|SPATA6L_ENST00000223517.5_Intron	p.S126S	NM_203453.3	NP_982278.3	Q8IY26	PPAC2_HUMAN		GBM - Glioblastoma multiforme(50;0.026)	1	456	+	all_hematologic(13;0.137)	Breast(48;0.238)	126					B3KY05|Q5JVJ6|Q8NCK9	Silent	SNP	ENST00000381883.2	37	c.378G>C	CCDS34981.1																																																																																				0.657	PPAPDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051567.1	NM_203453		3	37	0	0	0	1	0	3	37					C	4662753	G	C	4662753	2	2	493	1	0	0	0	0	0	0	0	1	12295	1132	40	4		4	PPAPDC2	9	4662753	Silent	SNP	G	TCGA-MK-A4N7-01A-11D-A257-08		4662753	136550678	10	10083											
SVEP1	79987	broad.mit.edu	37	chr9	113234582	113234582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagtaatccagcctattaGctgcaccccagccacctggt	8	14	0	1			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr9:113234582G>A	ENST00000401783.2	-	15	2957	c.2621C>T	c.(2620-2622)gCt>gTt	p.A874V	SVEP1_ENST00000374469.1_Missense_Mutation_p.A851V|SVEP1_ENST00000302728.8_Missense_Mutation_p.A874V|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	874					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CAGCCTATTAGCTGCACCCCA	0.493																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(2620-2622)gCt>gTt		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							72	75	74					9																	113234582		2025	4188	6213	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113234582G>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.2621C>T	9.37:g.113234582G>A	ENSP00000384917:p.Ala874Val					SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.A874V|SVEP1_ENST00000374469.1_Missense_Mutation_p.A851V	p.A874V	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			15	2957	-			874					Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.2621C>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046855	0.75846	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	T;T;T	0.78924	-1.04;-1.04;-1.22	5.25	4.33	0.51752	.	0.345027	0.30742	N	0.008964	T	0.77572	0.4150	M	0.63428	1.95	0.26491	N	0.974944	P;P	0.46912	0.886;0.813	P;B	0.45377	0.478;0.259	T	0.69826	-0.5040	10	0.27785	T	0.31	.	15.4136	0.74945	0.0:0.1445:0.8555:0.0	.	874;874	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	V	874;851;874	ENSP00000384917:A874V;ENSP00000363593:A851V;ENSP00000304118:A874V	ENSP00000304118:A874V	A	-	2	0	SVEP1	112274403	0.987000	0.35691	0.709000	0.30452	0.894000	0.52154	1.741000	0.38238	1.187000	0.43000	0.650000	0.86243	GCT		0.493	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				7	59	0	0	0	1	0	7	59					A	113234582	G	A	113234582	3	1	493	1	0	0	0	0	1	0	0	0	15417	971	34	2	8230	2	SVEP1	9	113234582	Missense_Mutation	SNP	G	TCGA-MK-A4N7-01A-11D-A257-08	108571829	113234582	27978849	11	10084											
FGFR2	2263	broad.mit.edu	37	chr10	123279544	123279544	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggcccgtatttactgccgttCttttccacgtgcttgatcca	8	13	1	1			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr10:123279544C>G	ENST00000358487.5	-	7	1160	c.888G>C	c.(886-888)aaG>aaC	p.K296N	FGFR2_ENST00000357555.5_Missense_Mutation_p.K207N|FGFR2_ENST00000346997.2_Missense_Mutation_p.K296N|FGFR2_ENST00000369056.1_Missense_Mutation_p.K296N|FGFR2_ENST00000478859.1_Missense_Mutation_p.K68N|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369060.4_Missense_Mutation_p.K296N|FGFR2_ENST00000356226.4_Missense_Mutation_p.K181N|FGFR2_ENST00000457416.2_Missense_Mutation_p.K296N|FGFR2_ENST00000360144.3_Missense_Mutation_p.K207N|FGFR2_ENST00000369061.4_Intron|FGFR2_ENST00000351936.6_Missense_Mutation_p.K296N|FGFR2_ENST00000369059.1_Missense_Mutation_p.K181N	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	296	Ig-like C2-type 3.				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)	TACTGCCGTTCTTTTCCACGT	0.537		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.(886-888)aaG>aaC		fibroblast growth factor receptor 2	Palifermin(DB00039)						128	121	123					10																	123279544		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.chr10:123279544C>G	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.888G>C	10.37:g.123279544C>G	ENSP00000351276:p.Lys296Asn					FGFR2_ENST00000369061.4_Intron|FGFR2_ENST00000357555.5_Missense_Mutation_p.K207N|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000351936.6_Missense_Mutation_p.K296N|FGFR2_ENST00000360144.3_Missense_Mutation_p.K207N|FGFR2_ENST00000369060.4_Missense_Mutation_p.K296N|FGFR2_ENST00000346997.2_Missense_Mutation_p.K296N|FGFR2_ENST00000457416.2_Missense_Mutation_p.K296N|FGFR2_ENST00000369059.1_Missense_Mutation_p.K181N|FGFR2_ENST00000369056.1_Missense_Mutation_p.K296N|FGFR2_ENST00000356226.4_Missense_Mutation_p.K181N|FGFR2_ENST00000478859.1_Missense_Mutation_p.K68N	p.K296N	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)	7	1160	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	296			Ig-like C2-type 3.		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.888G>C	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.396087	0.42512	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	T;T;T;D;T;T;T;T;T;T;T;T	0.95853	-0.34;-0.34;-0.34;-3.83;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34	5.79	5.79	0.91817	.	0.188800	0.56097	D	0.000034	D	0.91865	0.7425	N	0.16368	0.405	0.58432	D	0.999998	B;B;P;B;B;B;B;B;B;B	0.43287	0.076;0.003;0.802;0.002;0.003;0.015;0.12;0.247;0.001;0.303	B;B;B;B;B;B;B;B;B;B	0.41619	0.082;0.027;0.361;0.016;0.006;0.076;0.139;0.205;0.007;0.241	D	0.91388	0.5133	10	0.37606	T	0.19	.	20.0368	0.97565	0.0:1.0:0.0:0.0	.	315;181;296;315;296;207;181;315;207;296	D3DRD4;B5A963;B5A960;D3DRD5;P21802-18;P21802-21;P21802-20;D3DRE0;P21802-22;P21802-17	.;.;.;.;.;.;.;.;.;.	N	207;296;296;181;296;181;296;296;296;207;296;296;207	ENSP00000350166:K207N;ENSP00000351276:K296N;ENSP00000348559:K181N;ENSP00000358056:K296N;ENSP00000358055:K181N;ENSP00000263451:K296N;ENSP00000410294:K296N;ENSP00000309878:K296N;ENSP00000353262:K207N;ENSP00000358052:K296N;ENSP00000358054:K296N;ENSP00000337665:K207N	ENSP00000337665:K207N	K	-	3	2	FGFR2	123269534	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.112000	0.41892	2.735000	0.93741	0.563000	0.77884	AAG		0.537	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		8	72	0	0	0	1	0	8	72					G	123279544	C	G	123279544	3	3	493	1	0	0	0	0	1	0	0	0	5866	912	32	4	1881	4	FGFR2	10	123279544	Missense_Mutation	SNP	C	TCGA-MK-A4N7-01A-11D-A257-08		123279544	12255203	12	10085											
VPS11	55823	broad.mit.edu	37	chr11	118951865	118951865	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gccttggagttgccctcagtCcacttcctgtgtggccactc	10	15	1	0			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr11:118951865C>G	ENST00000300793.6	+	16	2541	c.2499C>G	c.(2497-2499)gtC>gtG	p.V833V	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	834					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		TGCCCTCAGTCCACTTCCTGT	0.507																																						ENST00000300793.6																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29						c.(2497-2499)gtC>gtG		vacuolar protein sorting 11 homolog (S. cerevisiae)							252	254	253					11																	118951865		2063	4200	6263	SO:0001819	synonymous_variant	55823				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding	g.chr11:118951865C>G	AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"RING-type (C3HC4) zinc fingers"	14583	protein-coding gene	gene with protein product		608549	"vacuolar protein sorting 11 (yeast homolog)"				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.2499C>G	11.37:g.118951865C>G						VPS11_ENST00000527798.1_3'UTR	p.V833V	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)	16	2541	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	834					Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Silent	SNP	ENST00000300793.6	37	c.2499C>G																																																																																					0.507	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021729		12	174	0	0	0	1	0	12	174					G	118951865	C	G	118951865	2	3	493	1	0	0	0	0	0	0	0	1	17185	842	30	4		4	VPS11	11	118951865	Silent	SNP	C	TCGA-MK-A4N7-01A-11D-A257-08		118951865	16054651	13	10086											
DNAJC7	7266	broad.mit.edu	37	chr17	40135606	40135606	+	Frame_Shift_Del	DEL	T	T	-													gttttctctgtctggtatacTttttcatagtctcgtactgc							TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr17:40135606delT	ENST00000457167.4	-	10	1295	c.1059delA	c.(1057-1059)aaafs	p.K353fs	DNAJC7_ENST00000316603.7_Frame_Shift_Del_p.K297fs|DNAJC7_ENST00000426588.3_Frame_Shift_Del_p.K297fs	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	353					chaperone cofactor-dependent protein refolding (GO:0070389)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				TCTGGTATACTTTTTCATAGT	0.368																																					Colon(63;618 1117 8600 10857 19751)	ENST00000457167.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						c.(1057-1059)aafs		DnaJ (Hsp40) homolog, subfamily C, member 7							201	165	177					17																	40135606		1874	4103	5977	SO:0001589	frameshift_variant	7266				chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding	g.chr17:40135606delT	U46571	CCDS45677.1, CCDS45678.1	17q11.2	2013-01-10				ENSG00000168259		"Heat shock proteins / DNAJ (HSP40)", "Tetratricopeptide (TTC) repeat domain containing"	12392	protein-coding gene	gene with protein product		601964		TTC2		8836031, 11147971	Standard	NR_029431		Approved	TPR2	uc002hyo.3	Q99615		ENST00000457167.4:c.1059delA	17.37:g.40135606delT	ENSP00000406463:p.Lys353fs					DNAJC7_ENST00000426588.3_Frame_Shift_Del_p.K297fs|DNAJC7_ENST00000316603.7_Frame_Shift_Del_p.K297fs	p.K353fs	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN			10	1295	-		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)	353					Q7Z784	Frame_Shift_Del	DEL	ENST00000457167.4	37	c.1059delA	CCDS45677.1																																																																																				0.368	DNAJC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453366.2			2	4						2	4	---	---	---	---	-	40135606	T	-	40135606	7	5	493	1	0	1	0	1	0	0	0	0	4654	1606	56	0	445	0	DNAJC7	17	40135606	Frame_Shift_Del	DEL	T	TCGA-MK-A4N7-01A-11D-A257-08		40135606	41059604	14	10087											
ZFR2	23217	broad.mit.edu	37	chr19	3821446	3821446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcccggctgctgggctccGtggcaatgggaaggtccggg	19	11	0	0			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr19:3821446G>A	ENST00000262961.4	-	10	1533	c.1523C>T	c.(1522-1524)aCg>aTg	p.T508M		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	508							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GCTGGGCTCCGTGGCAATGGG	0.642																																						ENST00000262961.4																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16						c.(1522-1524)aCg>aTg		zinc finger RNA binding protein 2							24	27	26					19																	3821446		1967	4150	6117	SO:0001583	missense	23217					intracellular	nucleic acid binding|zinc ion binding	g.chr19:3821446G>A	AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"KIAA1086"	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.1523C>T	19.37:g.3821446G>A	ENSP00000262961:p.Thr508Met						p.T508M	NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)	10	1533	-			508						Missense_Mutation	SNP	ENST00000262961.4	37	c.1523C>T	CCDS45921.1	.	.	.	.	.	.	.	.	.	.	G	6.760	0.509066	0.12883	.	.	ENSG00000105278	ENST00000262961	T	0.06142	3.34	3.03	-3.72	0.04411	.	0.882556	0.09211	N	0.833307	T	0.02455	0.0075	N	0.04636	-0.2	0.09310	N	0.999999	B	0.23377	0.084	B	0.15052	0.012	T	0.43909	-0.9362	10	0.40728	T	0.16	0.0418	4.8783	0.13667	0.6234:0.0:0.2023:0.1743	.	508	Q9UPR6	ZFR2_HUMAN	M	508	ENSP00000262961:T508M	ENSP00000262961:T508M	T	-	2	0	ZFR2	3772446	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.809000	0.27168	-0.615000	0.05679	-1.174000	0.01732	ACG		0.642	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453648.2	NM_015174		18	25	0	0	0	1	0	18	25					A	3821446	G	A	3821446	3	1	493	1	0	0	0	0	1	0	0	0	17657	1145	40	1	1336	1	ZFR2	19	3821446	Missense_Mutation	SNP	G	TCGA-MK-A4N7-01A-11D-A257-08		3821446	55307537	15	10088											
MCM8	84515	broad.mit.edu	37	chr20	5965510	5965510	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcatcatgatcacttactctCtgaacatgtgattgcaataa	6	9	3	3			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr20:5965510C>G	ENST00000378896.3	+	15	2194	c.1817C>G	c.(1816-1818)tCt>tGt	p.S606C	MCM8_ENST00000265187.4_Missense_Mutation_p.S590C|MCM8_ENST00000378883.1_Missense_Mutation_p.S559C|MCM8_ENST00000378886.2_Missense_Mutation_p.S646C	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	606	MCM.				cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						CACTTACTCTCTGAACATGTG	0.393																																						ENST00000378896.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						c.(1816-1818)tCt>tGt		minichromosome maintenance complex component 8							153	144	147					20																	5965510		2203	4300	6503	SO:0001583	missense	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5965510C>G	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"REC homolog (Drosophila)"	608187	"chromosome 20 open reading frame 154"	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.1817C>G	20.37:g.5965510C>G	ENSP00000368174:p.Ser606Cys					MCM8_ENST00000378883.1_Missense_Mutation_p.S559C|MCM8_ENST00000265187.4_Missense_Mutation_p.S590C|MCM8_ENST00000378886.2_Missense_Mutation_p.S646C	p.S606C	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN			15	2194	+			606			MCM.		B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	37	c.1817C>G	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010876	0.93346	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000378886;ENST00000265187	T;T;T;T	0.08102	3.13;3.13;3.13;3.13	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.33352	0.0860	M	0.83603	2.65	0.80722	D	1	D;D;P;D	0.59357	0.982;0.961;0.903;0.985	P;P;P;P	0.62740	0.848;0.81;0.775;0.906	T	0.02417	-1.1162	10	0.87932	D	0	-19.4626	20.3754	0.98918	0.0:1.0:0.0:0.0	.	559;646;590;606	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	C	606;559;646;590	ENSP00000368174:S606C;ENSP00000368161:S559C;ENSP00000368164:S646C;ENSP00000265187:S590C	ENSP00000265187:S590C	S	+	2	0	MCM8	5913510	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.171000	0.77595	2.894000	0.99253	0.591000	0.81541	TCT		0.393	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		4	29	0	0	0	1	0	4	29					G	5965510	C	G	5965510	3	3	493	1	0	0	0	0	1	0	0	0	9393	913	32	4	1871	4	MCM8	20	5965510	Missense_Mutation	SNP	C	TCGA-MK-A4N7-01A-11D-A257-08		5965510	57060010	16	10089											
ZNRF3	84133	broad.mit.edu	37	chr22	29446145	29446145	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tccctcgggggatcaggtgtCcacctgcagcctggagatga	14	12	1	2	rs563982294		TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr22:29446145C>G	ENST00000544604.2	+	8	2151	c.1976C>G	c.(1975-1977)tCc>tGc	p.S659C	ZNRF3_ENST00000402174.1_Missense_Mutation_p.S559C|ZNRF3_ENST00000406323.3_Missense_Mutation_p.S559C|ZNRF3_ENST00000332811.4_Missense_Mutation_p.S559C	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	659					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						GATCAGGTGTCCACCTGCAGC	0.682													C|||	1	0.000199681	0	0	5008	,	,		16514	0.001		0	False		,,,				2504	0					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.(1975-1977)tCc>tGc		zinc and ring finger 3							43	49	47					22																	29446145		2014	4160	6174	SO:0001583	missense	84133					integral to membrane	zinc ion binding	g.chr22:29446145C>G	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.1976C>G	22.37:g.29446145C>G	ENSP00000443824:p.Ser659Cys					ZNRF3_ENST00000406323.3_Missense_Mutation_p.S559C|ZNRF3_ENST00000402174.1_Missense_Mutation_p.S559C|ZNRF3_ENST00000332811.4_Missense_Mutation_p.S559C	p.S659C	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN			8	2151	+			659					B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Missense_Mutation	SNP	ENST00000544604.2	37	c.1976C>G	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195094	0.78902	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323	T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.89150	0.6633	M	0.65498	2.005	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.89829	0.3994	10	0.87932	D	0	-37.608	18.4931	0.90854	0.0:1.0:0.0:0.0	.	659	Q9ULT6	ZNRF3_HUMAN	C	659;559;366;559;559	ENSP00000443824:S659C;ENSP00000328614:S559C;ENSP00000384456:S559C;ENSP00000384553:S559C	ENSP00000328614:S559C	S	+	2	0	ZNRF3	27776145	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.098000	0.76974	2.603000	0.88011	0.650000	0.86243	TCC		0.682	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		9	91	0	0	0	1	0	9	91					G	29446145	C	G	29446145	3	3	493	1	0	0	0	0	1	0	0	0	18210	855	30	4	1702	4	ZNRF3	22	29446145	Missense_Mutation	SNP	C	TCGA-MK-A4N7-01A-11D-A257-08		29446145	21858421	17	10090											
HUWE1	10075	broad.mit.edu	37	chrX	53575049	53575049	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcactggcactgacttcacGgagttcttgcctttccggct	9	14	3	1			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chrX:53575049G>A	ENST00000342160.3	-	67	10678	c.10221C>T	c.(10219-10221)tcC>tcT	p.S3407S	HUWE1_ENST00000262854.6_Silent_p.S3407S|HUWE1_ENST00000474288.1_5'Flank			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3407					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTGACTTCACGGAGTTCTTGC	0.547													G|||	2	0.000529801	0	0	3775	,	,		13797	0		0	False		,,,				2504	0.002					ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(10219-10221)tcC>tcT		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							65	51	55					X																	53575049		2203	4299	6502	SO:0001819	synonymous_variant	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53575049G>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.10221C>T	X.37:g.53575049G>A						HUWE1_ENST00000262854.6_Silent_p.S3407S	p.S3407S			Q7Z6Z7	HUWE1_HUMAN			67	10678	-			3407					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	c.10221C>T	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	G	5.374	0.254215	0.10185	.	.	ENSG00000086758	ENST00000427052;ENST00000426907	.	.	.	5.53	-2.38	0.06622	.	.	.	.	.	T	0.62925	0.2468	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59789	-0.7388	4	.	.	.	.	12.8913	0.58073	0.6071:0.0:0.3929:0.0	.	.	.	.	C	2441;245	.	.	R	-	1	0	HUWE1	53591774	0.001000	0.12720	0.969000	0.41365	0.963000	0.63663	-2.099000	0.01346	-0.582000	0.05929	-0.306000	0.09157	CGT		0.547	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		16	37	0	0	0	1	0	16	37					A	53575049	G	A	53575049	2	1	493	1	0	0	0	0	0	0	0	1	7461	1103	39	1		1	HUWE1	23	53575049	Silent	SNP	G	TCGA-MK-A4N7-01A-11D-A257-08		53575049	101695511	18	10091											
ANKRD58	347454	broad.mit.edu	37	chrX	118893168	118893168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgggggctgaggctcgacGtgagcgccccaggcagcggc	19	14	0	2			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chrX:118893168G>A	ENST00000343905.3	+	1	593	c.538G>A	c.(538-540)Gtg>Atg	p.V180M		NM_001105576.2	NP_001099046.1	A6NJG2	SWAHD_HUMAN	sosondowah ankyrin repeat domain family member D	180																	GAGGCTCGACGTGAGCGCCCC	0.692																																						ENST00000343905.3																			0											c.(538-540)Gtg>Atg		sosondowah ankyrin repeat domain family member D							4	5	5					X																	118893168		1739	3739	5478	SO:0001583	missense	347454							g.chrX:118893168G>A		CCDS43984.1	Xq24	2013-01-10	2012-01-12	2012-01-12	ENSG00000187808	ENSG00000187808		"Ankyrin repeat domain containing"	32960	protein-coding gene	gene with protein product			"ankyrin repeat domain 58"	ANKRD58		22234889	Standard	NM_001105576		Approved		uc010nql.3	A6NJG2	OTTHUMG00000159606	ENST00000343905.3:c.538G>A	X.37:g.118893168G>A	ENSP00000340975:p.Val180Met						p.V180M	NM_001105576.2	NP_001099046.1	A6NJG2	ANR58_HUMAN			1	593	+			180						Missense_Mutation	SNP	ENST00000343905.3	37	c.538G>A	CCDS43984.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.377635	0.42105	.	.	ENSG00000187808	ENST00000343905	T	0.73897	-0.79	4.11	2.33	0.28932	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.73171	0.3553	M	0.74389	2.26	0.34797	D	0.736275	D	0.58268	0.982	P	0.46917	0.531	T	0.75519	-0.3289	9	0.49607	T	0.09	-15.4514	5.9364	0.19169	0.4401:0.0:0.5599:0.0	.	180	A6NJG2	ANR58_HUMAN	M	180	ENSP00000340975:V180M	ENSP00000340975:V180M	V	+	1	0	ANKRD58	118777196	1.000000	0.71417	0.965000	0.40720	0.261000	0.26267	2.073000	0.41519	0.262000	0.21774	0.190000	0.17370	GTG		0.692	SOWAHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356469.1	NM_001105576		6	4	0	0	0	1	0	6	4					A	118893168	G	A	118893168	3	1	493	1	0	0	0	0	1	0	0	0	684	1145	40	1	540	1	ANKRD58	23	118893168	Missense_Mutation	SNP	G	TCGA-MK-A4N7-01A-11D-A257-08	65318119	118893168	36377392	19	10092											
GABRQ	55879	broad.mit.edu	37	chrX	151806720	151806720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcatcaggacctggctcgcgGagggcaactaccccagtccc	11	16	2	0			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chrX:151806720G>A	ENST00000370306.2	+	1	84	c.64G>A	c.(64-66)Gag>Aag	p.E22K		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	22					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|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)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|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)	CTGGCTCGCGGAGGGCAACTA	0.647																																						ENST00000370306.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52						c.(64-66)Gag>Aag		gamma-aminobutyric acid (GABA) A receptor, theta							69	57	61					X																	151806720		2203	4300	6503	SO:0001583	missense	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	g.chrX:151806720G>A	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	14454	protein-coding gene	gene with protein product	"GABA(A) receptor, theta"	300349	"gamma-aminobutyric acid (GABA) receptor, theta"			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.64G>A	X.37:g.151806720G>A	ENSP00000359329:p.Glu22Lys						p.E22K	NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN			1	84	+	Acute lymphoblastic leukemia(192;6.56e-05)		22					A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	c.64G>A	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861051	0.71949	.	.	ENSG00000147402	ENST00000370306;ENST00000333733	T	0.81163	-1.46	4.14	4.14	0.48551	.	0.265062	0.27159	N	0.020660	T	0.69878	0.3160	L	0.29908	0.895	0.26658	N	0.97197	P	0.46784	0.884	B	0.40825	0.341	T	0.68424	-0.5412	10	0.87932	D	0	.	10.8095	0.46538	0.0:0.0:1.0:0.0	.	22	Q9UN88	GBRT_HUMAN	K	22;17	ENSP00000359329:E22K	ENSP00000331410:E17K	E	+	1	0	GABRQ	151557376	1.000000	0.71417	0.571000	0.28486	0.981000	0.71138	3.565000	0.53798	2.314000	0.78098	0.529000	0.55759	GAG		0.647	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		7	85	0	0	0	1	0	7	85					A	151806720	G	A	151806720	3	1	493	1	0	0	0	0	1	0	0	0	6175	1175	41	2	66	2	GABRQ	23	151806720	Missense_Mutation	SNP	G	TCGA-MK-A4N7-01A-11D-A257-08	32913552	151806720	3463840	20	10093											
TGFBI	7045	broad.mit.edu	37	chr5	135389735	135389735	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctctctggaagtgagcggttGaccctcctggctcccctgaa	11	14	1	3			TCGA-MK-A4N9-01A-11D-A257-08	TCGA-MK-A4N9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0046319-9ff3-4b37-9669-8efc39b4e1c7	a7a96497-5517-42bf-b9a7-b3a6ccfe0d46	g.chr5:135389735G>A	ENST00000442011.2	+	9	1391	c.1230G>A	c.(1228-1230)ttG>ttA	p.L410L	TGFBI_ENST00000305126.8_Silent_p.L410L	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	410	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTGAGCGGTTGACCCTCCTGG	0.532																																						ENST00000442011.2																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1228-1230)ttG>ttA		transforming growth factor, beta-induced, 68kDa							128	127	127					5																	135389735		1957	4155	6112	SO:0001819	synonymous_variant	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135389735G>A	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"transforming growth factor, beta-induced, 68kD"	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.1230G>A	5.37:g.135389735G>A						TGFBI_ENST00000305126.8_Silent_p.L410L	p.L410L	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		9	1391	+			410			FAS1 3.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Silent	SNP	ENST00000442011.2	37	c.1230G>A	CCDS47266.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.285912	0.23478	.	.	ENSG00000120708	ENST00000508767;ENST00000514554	.	.	.	6.08	3.18	0.36537	.	.	.	.	.	T	0.62660	0.2446	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60347	-0.7281	4	.	.	.	-12.8199	12.3406	0.55091	0.0:0.2398:0.6356:0.1245	.	.	.	.	N	149;128	.	.	D	+	1	0	TGFBI	135417634	1.000000	0.71417	0.979000	0.43373	0.941000	0.58515	2.656000	0.46716	0.891000	0.36235	0.655000	0.94253	GAC		0.532	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			15	90	0	0	0	1	0	15	90					A	135389735	G	A	135389735	2	1	494	1	0	0	0	0	0	0	0	1	15817	1281	45	2		2	TGFBI	5	135389735	Silent	SNP	G	TCGA-MK-A4N9-01A-11D-A257-08		135389735	45525525	1	10094											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-MK-A4N9-01A-11D-A257-08	TCGA-MK-A4N9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0046319-9ff3-4b37-9669-8efc39b4e1c7	a7a96497-5517-42bf-b9a7-b3a6ccfe0d46	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		10	17	0	0	0	1	0	10	17					T	140453136	A	T	140453136	3	4	494	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-MK-A4N9-01A-11D-A257-08		140453136	18685527	2	10095											
CSMD1	64478	broad.mit.edu	37	chr8	4494931	4494931	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aatatcaaaatcttcttcaaGagcaaaggtatggaaggaca	8	6	4	1			TCGA-MK-A4N9-01A-11D-A257-08	TCGA-MK-A4N9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0046319-9ff3-4b37-9669-8efc39b4e1c7	a7a96497-5517-42bf-b9a7-b3a6ccfe0d46	g.chr8:4494931G>C	ENST00000520002.1	-	2	790	c.235C>G	c.(235-237)Ctt>Gtt	p.L79V	CSMD1_ENST00000602723.1_Missense_Mutation_p.L79V|CSMD1_ENST00000400186.3_Missense_Mutation_p.L79V|CSMD1_ENST00000542608.1_Missense_Mutation_p.L79V|CSMD1_ENST00000602557.1_Missense_Mutation_p.L79V|CSMD1_ENST00000539096.1_Missense_Mutation_p.L79V|CSMD1_ENST00000537824.1_Missense_Mutation_p.L79V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	79	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCTTCTTCAAGAGCAAAGGTA	0.423																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(235-237)Ctt>Gtt		CUB and Sushi multiple domains 1							130	129	130					8																	4494931		1914	4149	6063	SO:0001583	missense	64478					integral to membrane		g.chr8:4494931G>C			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.235C>G	8.37:g.4494931G>C	ENSP00000430733:p.Leu79Val					CSMD1_ENST00000602723.1_Missense_Mutation_p.L79V|CSMD1_ENST00000602557.1_Missense_Mutation_p.L79V|CSMD1_ENST00000542608.1_Missense_Mutation_p.L79V|CSMD1_ENST00000539096.1_Missense_Mutation_p.L79V|CSMD1_ENST00000400186.3_Missense_Mutation_p.L79V|CSMD1_ENST00000537824.1_Missense_Mutation_p.L79V	p.L79V			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	2	790	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	79			CUB 1.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.235C>G		.	.	.	.	.	.	.	.	.	.	G	14.05	2.420579	0.42918	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.1	5.12	5.12	0.69794	.	.	.	.	.	T	0.40272	0.1110	L	0.42487	1.325	0.28338	N	0.921467	D	0.69078	0.997	D	0.85130	0.997	T	0.16988	-1.0384	9	0.51188	T	0.08	.	16.0542	0.80782	0.0:0.0:1.0:0.0	.	79	E5RIG2	.	V	79	ENSP00000383047:L79V;ENSP00000430733:L79V;ENSP00000441462:L79V;ENSP00000446243:L79V;ENSP00000441675:L79V	ENSP00000383047:L79V	L	-	1	0	CSMD1	4482339	1.000000	0.71417	0.186000	0.23195	0.990000	0.78478	5.719000	0.68462	2.401000	0.81631	0.585000	0.79938	CTT		0.423	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		4	84	0	0	0	1	0	4	84					C	4494931	G	C	4494931	3	2	494	1	0	0	0	0	1	0	0	0	3944	942	33	4	10548	4	CSMD1	8	4494931	Missense_Mutation	SNP	G	TCGA-MK-A4N9-01A-11D-A257-08		4494931	141869091	3	10096											
PEX5	5830	broad.mit.edu	37	chr12	7343014	7343014	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggaggccgaatgcgggggtgCcaacccgctcatgaagctcg	16	12	1	1			TCGA-MK-A4N9-01A-11D-A257-08	TCGA-MK-A4N9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0046319-9ff3-4b37-9669-8efc39b4e1c7	a7a96497-5517-42bf-b9a7-b3a6ccfe0d46	g.chr12:7343014C>G	ENST00000455147.2	+	3	621	c.41C>G	c.(40-42)gCc>gGc	p.A14G	RP11-273B20.3_ENST00000543061.1_RNA|PEX5_ENST00000420616.2_Missense_Mutation_p.A14G|PEX5_ENST00000434354.2_Missense_Mutation_p.A14G|PEX5_ENST00000545220.1_Intron|PEX5_ENST00000266564.3_Missense_Mutation_p.A14G|RP11-273B20.3_ENST00000545794.1_RNA|PEX5_ENST00000266563.5_Missense_Mutation_p.A14G|PEX5_ENST00000412720.2_Missense_Mutation_p.A35G	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	14					cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						TGCGGGGGTGCCAACCCGCTC	0.667																																						ENST00000266563.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						c.(40-42)gCc>gGc		peroxisomal biogenesis factor 5							59	65	63					12																	7343014		2203	4300	6503	SO:0001583	missense	5830				protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding	g.chr12:7343014C>G	U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"Tetratricopeptide (TTC) repeat domain containing"	9719	protein-coding gene	gene with protein product		600414	"peroxisome receptor 1"	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.41C>G	12.37:g.7343014C>G	ENSP00000400647:p.Ala14Gly					PEX5_ENST00000545220.1_Intron|PEX5_ENST00000420616.2_Missense_Mutation_p.A14G|PEX5_ENST00000455147.2_Missense_Mutation_p.A14G|PEX5_ENST00000266564.3_Missense_Mutation_p.A14G|PEX5_ENST00000412720.2_Missense_Mutation_p.A35G|PEX5_ENST00000434354.2_Missense_Mutation_p.A14G	p.A14G	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN			2	224	+			14					A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Missense_Mutation	SNP	ENST00000455147.2	37	c.41C>G	CCDS44823.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.814335	0.70912	.	.	ENSG00000139197	ENST00000542539;ENST00000455147;ENST00000540398;ENST00000266563;ENST00000434354;ENST00000544456;ENST00000545574;ENST00000420616;ENST00000412720;ENST00000396637;ENST00000536841;ENST00000537873;ENST00000266564	D;D;D;D;D;D;D	0.89343	-2.44;-2.5;-2.39;-2.44;-2.46;-2.27;-2.43	4.83	4.83	0.62350	.	0.058458	0.64402	D	0.000002	D	0.85699	0.5757	L	0.38175	1.15	0.42406	D	0.992587	P;B;P;P;P	0.40398	0.595;0.262;0.594;0.716;0.716	B;B;B;B;B	0.40066	0.192;0.146;0.219;0.318;0.234	D	0.87550	0.2464	10	0.56958	D	0.05	.	17.5413	0.87849	0.0:1.0:0.0:0.0	.	35;14;14;14;14	B4E0T2;B4DZ45;P50542;P50542-3;P50542-2	.;.;PEX5_HUMAN;.;.	G	14;14;14;14;14;14;14;14;35;14;14;14;14	ENSP00000400647:A14G;ENSP00000266563:A14G;ENSP00000407401:A14G;ENSP00000410159:A14G;ENSP00000391601:A35G;ENSP00000379877:A14G;ENSP00000266564:A14G	ENSP00000266563:A14G	A	+	2	0	PEX5	7234281	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.670000	0.74467	2.245000	0.73994	0.561000	0.74099	GCC		0.667	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398611.1	NM_000319		5	141	0	0	0	1	0	5	141					G	7343014	C	G	7343014	3	3	494	1	0	0	0	0	1	0	0	0	11748	739	26	4	43	4	PEX5	12	7343014	Missense_Mutation	SNP	C	TCGA-MK-A4N9-01A-11D-A257-08		7343014	126508881	4	10097											
NTN4	59277	broad.mit.edu	37	chr12	96180969	96180969	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggatcttttctctgtgcacAtcctccgcagactgccacca	7	15	2	1	rs368445088		TCGA-MK-A4N9-01A-11D-A257-08	TCGA-MK-A4N9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0046319-9ff3-4b37-9669-8efc39b4e1c7	a7a96497-5517-42bf-b9a7-b3a6ccfe0d46	g.chr12:96180969A>C	ENST00000343702.4	-	2	781	c.333T>G	c.(331-333)gaT>gaG	p.D111E	NTN4_ENST00000553059.1_Missense_Mutation_p.D111E|NTN4_ENST00000538383.1_Missense_Mutation_p.D74E|NTN4_ENST00000344911.4_Missense_Mutation_p.D74E	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	111	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CTCTGTGCACATCCTCCGCAG	0.542																																						ENST00000343702.4																			0				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(331-333)gaT>gaG		netrin 4							115	102	106					12																	96180969		2203	4300	6503	SO:0001583	missense	59277				axon guidance	basement membrane|plasma membrane		g.chr12:96180969A>C	AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"Netrins"	13658	protein-coding gene	gene with protein product	"beta-netrin", "Netrin-4"	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.333T>G	12.37:g.96180969A>C	ENSP00000340998:p.Asp111Glu					NTN4_ENST00000553059.1_Missense_Mutation_p.D111E|NTN4_ENST00000344911.4_Missense_Mutation_p.D74E|NTN4_ENST00000538383.1_Missense_Mutation_p.D74E	p.D111E	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN			2	781	-			111			Laminin N-terminal.		B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Missense_Mutation	SNP	ENST00000343702.4	37	c.333T>G	CCDS9054.1	.	.	.	.	.	.	.	.	.	.	A	12.14	1.847859	0.32606	.	.	ENSG00000074527	ENST00000343702;ENST00000344911;ENST00000538383;ENST00000553059;ENST00000547980	T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89;-0.89	5.54	1.83	0.25207	Laminin, N-terminal (3);	0.175681	0.50627	D	0.000108	T	0.61476	0.2350	L	0.53249	1.67	0.26849	N	0.968215	B;B	0.32526	0.374;0.07	B;B	0.32928	0.108;0.155	T	0.46020	-0.9221	10	0.13108	T	0.6	.	5.7374	0.18073	0.5578:0.2459:0.1963:0.0	.	111;111	Q9HB63-2;Q9HB63	.;NET4_HUMAN	E	111;74;74;111;74	ENSP00000340998:D111E;ENSP00000339436:D74E;ENSP00000444432:D74E;ENSP00000447292:D111E;ENSP00000447594:D74E	ENSP00000340998:D111E	D	-	3	2	NTN4	94705100	0.021000	0.18746	1.000000	0.80357	0.788000	0.44548	0.009000	0.13219	0.351000	0.24027	-0.566000	0.04163	GAT		0.542	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408372.1	NM_021229		4	70	0	0	0	1	0	4	70					C	96180969	A	C	96180969	3	2	494	1	0	0	0	0	1	0	0	0	10702	214	8	5	1589	5	NTN4	12	96180969	Missense_Mutation	SNP	A	TCGA-MK-A4N9-01A-11D-A257-08	88837955	96180969	37670926	5	10098											
SALL1	6299	broad.mit.edu	37	chr16	51175656	51175658	+	In_Frame_Del	DEL	GCT	GCT	-													gaggagctgccgccgccgccGctgctgctgctgctgctgct					rs13336129|rs372299573	byFrequency	TCGA-MK-A4N9-01A-11D-A257-08	TCGA-MK-A4N9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0046319-9ff3-4b37-9669-8efc39b4e1c7	a7a96497-5517-42bf-b9a7-b3a6ccfe0d46	g.chr16:51175656_51175658delGCT	ENST00000251020.4	-	2	508_510	c.475_477delAGC	c.(475-477)agcdel	p.S159del	SALL1_ENST00000440970.1_In_Frame_Del_p.S62del|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	159	Poly-Ser.		S -> G (in dbSNP:rs13336129). {ECO:0000269|PubMed:9973281}.		adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S159G(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			cgccgccgccgctgctgctgctg	0.631																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			1	Substitution - Missense(1)	p.S159G(1)	prostate(1)	NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(184-186)del		spalt-like transcription factor 1																																				SO:0001651	inframe_deletion	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175656_51175658delGCT	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.475_477delAGC	16.37:g.51175665_51175667delGCT	ENSP00000251020:p.Ser159del					SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_In_Frame_Del_p.S159del	p.S62del	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	615_617	-		all_cancers(37;0.0322)	159					Q99881|Q9NSC3|Q9P1R0	In_Frame_Del	DEL	ENST00000251020.4	37	c.184_186delAGC	CCDS10747.1																																																																																				0.631	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		8	99						8	99	---	---	---	---	-	51175658	GCT	-	51175656	7	5	494	1	0	1	0	1	0	0	0	0	13810	1078	38	0	3505	0	SALL1	16	51175656	In_Frame_Del	DEL	GCT	TCGA-MK-A4N9-01A-11D-A257-08		51175656	39179097	6	10099											
RSPH6A	81492	broad.mit.edu	37	chr19	46308064	46308064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcctcctcctctgcctcctCctcgccctcccggaattcca	4	23	1	0			TCGA-MK-A4N9-01A-11D-A257-08	TCGA-MK-A4N9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0046319-9ff3-4b37-9669-8efc39b4e1c7	a7a96497-5517-42bf-b9a7-b3a6ccfe0d46	g.chr19:46308064C>T	ENST00000221538.3	-	3	1241	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	RSPH6A_ENST00000600188.1_Missense_Mutation_p.E103K|RSPH6A_ENST00000597055.1_Missense_Mutation_p.E367K	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	367	Glu-rich.					intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						tctgcctcctcctcgccctcc	0.652																																						ENST00000221538.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						c.(1099-1101)Gag>Aag		radial spoke head 6 homolog A (Chlamydomonas)							80	66	71					19																	46308064		2203	4300	6503	SO:0001583	missense	81492					intracellular		g.chr19:46308064C>T	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"radial spokehead-like 1"	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.1099G>A	19.37:g.46308064C>T	ENSP00000221538:p.Glu367Lys					RSPH6A_ENST00000600188.1_Missense_Mutation_p.E103K|RSPH6A_ENST00000597055.1_Missense_Mutation_p.E367K	p.E367K	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN			3	1241	-			367			Glu-rich.		Q53FE2|Q6PEZ9	Missense_Mutation	SNP	ENST00000221538.3	37	c.1099G>A	CCDS12675.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241610	0.79912	.	.	ENSG00000104941	ENST00000221538	T	0.17370	2.28	3.91	3.91	0.45181	.	0.320123	0.32533	N	0.005973	T	0.27629	0.0679	L	0.52905	1.665	0.45150	D	0.998166	P	0.51449	0.945	P	0.57468	0.821	T	0.02190	-1.1198	10	0.10636	T	0.68	-5.0786	14.2466	0.65993	0.0:1.0:0.0:0.0	.	367	Q9H0K4	RSH6A_HUMAN	K	367	ENSP00000221538:E367K	ENSP00000221538:E367K	E	-	1	0	RSPH6A	50999904	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	7.226000	0.78060	2.461000	0.83175	0.456000	0.33151	GAG		0.652	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			12	56	0	0	0	1	0	12	56					T	46308064	C	T	46308064	3	4	494	1	0	0	0	0	1	0	0	0	13707	864	30	2	1070	2	RSPH6A	19	46308064	Missense_Mutation	SNP	C	TCGA-MK-A4N9-01A-11D-A257-08		46308064	12820919	7	10100											
DDX53	168400	broad.mit.edu	37	chrX	23019751	23019751	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatactgattacaactgataTagtatcccgaggtcttgatc	8	8	1	3	rs145541868		TCGA-MK-A4N9-01A-11D-A257-08	TCGA-MK-A4N9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0046319-9ff3-4b37-9669-8efc39b4e1c7	a7a96497-5517-42bf-b9a7-b3a6ccfe0d46	g.chrX:23019751T>C	ENST00000327968.5	+	1	1665	c.1577T>C	c.(1576-1578)aTa>aCa	p.I526T	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	526	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						ACAACTGATATAGTATCCCGA	0.373																																						ENST00000327968.5																			0				breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						c.(1576-1578)aTa>aCa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 53		T	THR/ILE	2,3833		0,2,0,1630,571	123	114	117		1577	1.9	0.0	X	dbSNP_134	117	1,6727		0,0,1,2428,1871	no	missense	DDX53	NM_182699.3	89	0,2,1,4058,2442	CC,CT,C,TT,T		0.0149,0.0522,0.0284	benign	526/632	23019751	3,10560	2203	4300	6503	SO:0001583	missense	168400					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chrX:23019751T>C	AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"DEAD-boxes"	20083	protein-coding gene	gene with protein product	"cancer associated gene", "cancer/testis antigen 26"						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.1577T>C	X.37:g.23019751T>C	ENSP00000368667:p.Ile526Thr					RP11-40F8.2_ENST00000455399.1_RNA	p.I526T	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN			1	1665	+			526			Helicase C-terminal.		Q0D2N2|Q6NVV4	Missense_Mutation	SNP	ENST00000327968.5	37	c.1577T>C	CCDS35214.1	.	.	.	.	.	.	.	.	.	.	T	11.68	1.711684	0.30322	5.22E-4	1.49E-4	ENSG00000184735	ENST00000327968	T	0.77358	-1.09	4.32	1.86	0.25419	Helicase, C-terminal (3);	0.160946	0.41823	D	0.000810	T	0.77143	0.4087	M	0.84773	2.715	0.22142	N	0.999334	B	0.14438	0.01	B	0.25759	0.063	T	0.70296	-0.4911	10	0.87932	D	0	-17.436	6.7412	0.23437	0.0:0.2111:0.0:0.7889	.	526	Q86TM3	DDX53_HUMAN	T	526	ENSP00000368667:I526T	ENSP00000368667:I526T	I	+	2	0	DDX53	22929672	1.000000	0.71417	0.001000	0.08648	0.001000	0.01503	6.784000	0.75084	0.077000	0.16863	0.486000	0.48141	ATA		0.373	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1	NM_182699		3	50	0	0	0	1	0	3	50					C	23019751	T	C	23019751	3	2	494	1	0	0	0	0	1	0	0	0	4371	1406	49	3	1579	3	DDX53	23	23019751	Missense_Mutation	SNP	T	TCGA-MK-A4N9-01A-11D-A257-08		23019751	132250809	8	10101											
CASZ1	54897	broad.mit.edu	37	chr1	10714146	10714146	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgtacacgcagccctcGtacttgcactcctcgtactt	7	15	0	0			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr1:10714146G>A	ENST00000377022.3	-	11	2285	c.1968C>T	c.(1966-1968)taC>taT	p.Y656Y	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Silent_p.Y656Y	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	656					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CGCAGCCCTCGTACTTGCACT	0.557																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(1966-1968)taC>taT		castor zinc finger 1							143	129	134					1																	10714146		2203	4300	6503	SO:0001819	synonymous_variant	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10714146G>A	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1968C>T	1.37:g.10714146G>A						RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Silent_p.Y656Y	p.Y656Y	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	11	2285	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	656					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	ENST00000377022.3	37	c.1968C>T	CCDS41246.1																																																																																				0.557	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		16	27	0	0	0	1	0	16	27					A	10714146	G	A	10714146	2	1	495	1	0	0	0	0	0	0	0	1	2685	1140	40	1		1	CASZ1	1	10714146	Silent	SNP	G	TCGA-MK-A84Z-01A-11D-A397-08		10714146	238536475	1	10102											
BRDT	676	broad.mit.edu	37	chr1	92442625	92442625	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaaggtgtgaagaggaaagCagatacaacaactcctgcaa	10	7	0	3			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr1:92442625C>A	ENST00000362005.3	+	7	1062	c.644C>A	c.(643-645)gCa>gAa	p.A215E	BRDT_ENST00000394530.3_Missense_Mutation_p.A169E|BRDT_ENST00000370389.2_Missense_Mutation_p.A142E|BRDT_ENST00000402388.1_Missense_Mutation_p.A215E|BRDT_ENST00000399546.2_Missense_Mutation_p.A215E	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	215					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AAGAGGAAAGCAGATACAACA	0.343																																						ENST00000370389.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56						c.(424-426)gCa>gAa		bromodomain, testis-specific							51	49	49					1																	92442625		2203	4300	6503	SO:0001583	missense	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92442625C>A	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"cancer/testis antigen 9"	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.644C>A	1.37:g.92442625C>A	ENSP00000354568:p.Ala215Glu					BRDT_ENST00000402388.1_Missense_Mutation_p.A215E|BRDT_ENST00000362005.3_Missense_Mutation_p.A215E|BRDT_ENST00000394530.3_Missense_Mutation_p.A169E|BRDT_ENST00000399546.2_Missense_Mutation_p.A215E	p.A142E	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	6	1349	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	215					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	c.425C>A	CCDS735.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508668	0.85282	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000394530;ENST00000426141;ENST00000402388	T;T;T;T;T;T	0.15139	2.74;2.73;2.74;2.76;2.45;2.74	5.02	4.1	0.47936	.	0.000000	0.64402	D	0.000006	T	0.35624	0.0938	M	0.86953	2.85	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;0.981;1.0	D;D;D;D	0.71414	0.973;0.973;0.917;0.973	T	0.45804	-0.9236	10	0.87932	D	0	-12.8024	13.4471	0.61146	0.0:0.9243:0.0:0.0757	.	169;169;219;215	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	E	215;142;215;215;169;215;215	ENSP00000354568:A215E;ENSP00000359416:A142E;ENSP00000387822:A215E;ENSP00000378038:A169E;ENSP00000404969:A215E;ENSP00000384051:A215E	ENSP00000354568:A215E	A	+	2	0	BRDT	92215213	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.850000	0.62889	1.245000	0.43885	0.655000	0.94253	GCA		0.343	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		10	14	1	0	4.68919e-08	1	4.68919e-08	10	14					A	92442625	C	A	92442625	3	1	495	1	0	0	0	0	1	0	0	0	1508	710	25	4	662	4	BRDT	1	92442625	Missense_Mutation	SNP	C	TCGA-MK-A84Z-01A-11D-A397-08	81728479	92442625	156807996	2	10103											
SPHKAP	80309	broad.mit.edu	37	chr2	228884216	228884216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatctggactctgaacaaCgacgattttggggagctcat	11	10	3	1	rs200812632		TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr2:228884216C>T	ENST00000392056.3	-	7	1400	c.1354G>A	c.(1354-1356)Gtt>Att	p.V452I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.V452I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	452						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.V452I(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTCTGAACAACGACGATTTTG	0.507													C|||	1	0.000199681	0	0	5008	,	,		20681	0		0.001	False		,,,				2504	0					ENST00000392056.3																			2	Substitution - Missense(2)	p.V452I(2)	endometrium(2)	NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(1354-1356)Gtt>Att		SPHK1 interactor, AKAP domain containing							99	97	98					2																	228884216		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228884216C>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1354G>A	2.37:g.228884216C>T	ENSP00000375909:p.Val452Ile					SPHKAP_ENST00000344657.5_Missense_Mutation_p.V452I	p.V452I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	1400	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	452					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.1354G>A	CCDS46537.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	4.730	0.135652	0.09032	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.05717	3.41;3.4	6.03	2.42	0.29668	.	0.043547	0.85682	N	0.000000	T	0.01353	0.0044	N	0.00332	-1.63	0.23440	N	0.997673	B;B	0.17465	0.002;0.022	B;B	0.08055	0.0;0.003	T	0.47674	-0.9099	10	0.02654	T	1	.	8.9785	0.35950	0.0:0.2142:0.0:0.7858	.	452;452	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	I	452	ENSP00000375909:V452I;ENSP00000339886:V452I	ENSP00000339886:V452I	V	-	1	0	SPHKAP	228592460	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	3.744000	0.55112	0.179000	0.19938	-0.302000	0.09304	GTT		0.507	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		4	77	0	0	0	1	0	4	77					T	228884216	C	T	228884216	3	4	495	1	0	0	0	0	1	0	0	0	15047	536	19	1	3772	1	SPHKAP	2	228884216	Missense_Mutation	SNP	C	TCGA-MK-A84Z-01A-11D-A397-08		228884216	14315157	3	10104											
THUMPD3	25917	broad.mit.edu	37	chr3	9413207	9413207	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggaaggccgacatgaccaActttgatgtggaggtaggta	15	6	0	2			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr3:9413207A>G	ENST00000345094.3	+	4	1128	c.794A>G	c.(793-795)aAc>aGc	p.N265S	THUMPD3_ENST00000515662.2_Missense_Mutation_p.N265S|SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000452837.2_Missense_Mutation_p.N265S	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	265	THUMP. {ECO:0000255|PROSITE- ProRule:PRU00529}.					cytoplasm (GO:0005737)|nucleolus (GO:0005730)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		GACATGACCAACTTTGATGTG	0.423																																						ENST00000345094.3																			0				NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19						c.(793-795)aAc>aGc		THUMP domain containing 3							146	137	140					3																	9413207		2199	4294	6493	SO:0001583	missense	25917						methyltransferase activity|protein binding|RNA binding	g.chr3:9413207A>G	AL117483	CCDS2573.1	3p25.3	2004-06-04			ENSG00000134077	ENSG00000134077			24493	protein-coding gene	gene with protein product						12477932	Standard	NM_015453		Approved	DKFZP434F091	uc003brn.4	Q9BV44	OTTHUMG00000097031	ENST00000345094.3:c.794A>G	3.37:g.9413207A>G	ENSP00000339532:p.Asn265Ser					THUMPD3_ENST00000452837.2_Missense_Mutation_p.N265S|SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000515662.2_Missense_Mutation_p.N265S	p.N265S	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.101)	4	1128	+	Medulloblastoma(99;0.227)		265			THUMP.		Q9H8V6|Q9NVC1|Q9UFS3	Missense_Mutation	SNP	ENST00000345094.3	37	c.794A>G	CCDS2573.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.37|14.37	2.516076|2.516076	0.44763|0.44763	.|.	.|.	ENSG00000134077|ENSG00000134077	ENST00000452837;ENST00000345094;ENST00000515662|ENST00000441127	T;T;T|.	0.48522|.	0.81;0.81;0.81|.	5.93|5.93	4.75|4.75	0.60458|0.60458	THUMP (3);|.	0.118359|.	0.85682|.	N|.	0.000000|.	T|T	0.71986|0.71986	0.3405|0.3405	M|M	0.75150|0.75150	2.29|2.29	0.51482|0.51482	D|D	0.999923|0.999923	B|.	0.15719|.	0.014|.	B|.	0.22152|.	0.038|.	T|T	0.71467|0.71467	-0.4584|-0.4584	10|5	0.28530|.	T|.	0.3|.	-25.9073|-25.9073	11.8969|11.8969	0.52661|0.52661	0.9307:0.0:0.0693:0.0|0.9307:0.0:0.0693:0.0	.|.	265|.	Q9BV44|.	THUM3_HUMAN|.	S|A	265|122	ENSP00000395893:N265S;ENSP00000339532:N265S;ENSP00000424064:N265S|.	ENSP00000339532:N265S|.	N|T	+|+	2|1	0|0	THUMPD3|THUMPD3	9388207|9388207	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	5.257000|5.257000	0.65473|0.65473	1.040000|1.040000	0.40099|0.40099	0.454000|0.454000	0.30748|0.30748	AAC|ACT		0.423	THUMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214127.1	NM_015453		62	78	0	0	0	1	0	62	78					G	9413207	A	G	9413207	3	3	495	1	0	0	0	0	1	0	0	0	15881	43	2	3	804	3	THUMPD3	3	9413207	Missense_Mutation	SNP	A	TCGA-MK-A84Z-01A-11D-A397-08		9413207	188609223	4	10105											
LPHN3	23284	broad.mit.edu	37	chr4	62812686	62812686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgggtccttatttatccaCggagaatgccagtatgaagt	10	8	0	2			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr4:62812686C>T	ENST00000514591.1	+	15	2599	c.2270C>T	c.(2269-2271)aCg>aTg	p.T757M	LPHN3_ENST00000509896.1_Missense_Mutation_p.T825M|LPHN3_ENST00000506746.1_Missense_Mutation_p.T825M|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000511324.1_Missense_Mutation_p.T825M|LPHN3_ENST00000545650.1_Missense_Mutation_p.T757M|LPHN3_ENST00000508693.1_Missense_Mutation_p.T825M|LPHN3_ENST00000506700.1_Missense_Mutation_p.T757M|LPHN3_ENST00000514157.1_Missense_Mutation_p.T757M|LPHN3_ENST00000514996.1_Missense_Mutation_p.T757M|LPHN3_ENST00000508946.1_Missense_Mutation_p.T757M|LPHN3_ENST00000507625.1_Missense_Mutation_p.T825M|LPHN3_ENST00000504896.1_Missense_Mutation_p.T757M|LPHN3_ENST00000506720.1_Missense_Mutation_p.T825M|LPHN3_ENST00000507164.1_Missense_Mutation_p.T825M|LPHN3_ENST00000512091.2_Missense_Mutation_p.T757M			Q9HAR2	LPHN3_HUMAN	latrophilin 3	744					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.T757M(2)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TATTTATCCACGGAGAATGCC	0.393																																						ENST00000512091.1																			2	Substitution - Missense(2)	p.T757M(2)	upper_aerodigestive_tract(2)	breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(2269-2271)aCg>aTg		latrophilin 3							263	245	251					4																	62812686		1878	4113	5991	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62812686C>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2270C>T	4.37:g.62812686C>T	ENSP00000422533:p.Thr757Met					LPHN3_ENST00000511324.1_Missense_Mutation_p.T825M|LPHN3_ENST00000514591.1_Missense_Mutation_p.T757M|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000504896.1_Missense_Mutation_p.T757M|LPHN3_ENST00000509896.1_Missense_Mutation_p.T825M|LPHN3_ENST00000506700.1_Missense_Mutation_p.T757M|LPHN3_ENST00000507164.1_Missense_Mutation_p.T825M|LPHN3_ENST00000506720.1_Missense_Mutation_p.T825M|LPHN3_ENST00000508693.1_Missense_Mutation_p.T825M|LPHN3_ENST00000514996.1_Missense_Mutation_p.T757M|LPHN3_ENST00000507625.1_Missense_Mutation_p.T825M|LPHN3_ENST00000545650.1_Missense_Mutation_p.T757M|LPHN3_ENST00000514157.1_Missense_Mutation_p.T757M|LPHN3_ENST00000508946.1_Missense_Mutation_p.T757M|LPHN3_ENST00000506746.1_Missense_Mutation_p.T825M	p.T757M			Q9HAR2	LPHN3_HUMAN			15	3017	+			744					E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.2270C>T	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.927985	0.92389	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79;2.79;2.79;2.79;2.79;2.79;2.79;2.79;2.79;2.79;2.79	5.51	5.51	0.81932	Domain of unknown function DUF3497 (1);	0.000000	0.85682	D	0.000000	T	0.34600	0.0903	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.02821	-1.1106	10	0.87932	D	0	.	19.4278	0.94751	0.0:1.0:0.0:0.0	.	757;744;757	E9PE04;Q9HAR2;Q9HAR2-2	.;LPHN3_HUMAN;.	M	757;757;825;825;757;757;744;757;825;825;825;757;757;757;825;825;757	ENSP00000423388:T757M;ENSP00000422533:T757M;ENSP00000423787:T825M;ENSP00000425033:T825M;ENSP00000424120:T757M;ENSP00000439831:T757M;ENSP00000421476:T825M;ENSP00000424030:T825M;ENSP00000421372:T825M;ENSP00000425201:T757M;ENSP00000423434:T757M;ENSP00000421627:T757M;ENSP00000420931:T825M;ENSP00000425884:T825M;ENSP00000424258:T757M	ENSP00000280009:T757M	T	+	2	0	LPHN3	62495281	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.595000	0.87683	0.557000	0.71058	ACG		0.393	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			4	160	0	0	0	1	0	4	160					T	62812686	C	T	62812686	3	4	495	1	0	0	0	0	1	0	0	0	8917	536	19	1	2320	1	LPHN3	4	62812686	Missense_Mutation	SNP	C	TCGA-MK-A84Z-01A-11D-A397-08		62812686	128341590	5	10106											
AHRR	57491	broad.mit.edu	37	chr5	424018	424018	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ggggcacaggcacgcccaccGagtactcggccttcctgacc	12	17	0	1			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr5:424018G>C	ENST00000505113.1	+	7	690	c.646G>C	c.(646-648)Gag>Cag	p.E216Q	AHRR_ENST00000506456.1_Missense_Mutation_p.E72Q|AHRR_ENST00000512529.1_Missense_Mutation_p.E62Q|AHRR_ENST00000316418.5_Missense_Mutation_p.E216Q	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	216					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CACGCCCACCGAGTACTCGGC	0.682																																						ENST00000316418.5																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(646-648)Gag>Cag		aryl-hydrocarbon receptor repressor							46	55	52					5																	424018		2072	4195	6267	SO:0001583	missense	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:424018G>C	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"Basic helix-loop-helix proteins"	346	protein-coding gene	gene with protein product		606517	"aryl hydrocarbon receptor regulator"	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.646G>C	5.37:g.424018G>C	ENSP00000424601:p.Glu216Gln					AHRR_ENST00000505113.1_Missense_Mutation_p.E216Q|AHRR_ENST00000506456.1_Missense_Mutation_p.E72Q|AHRR_ENST00000512529.1_Missense_Mutation_p.E62Q	p.E216Q	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		7	690	+			216					A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	ENST00000505113.1	37	c.646G>C	CCDS56355.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.002436	0.54254	.	.	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456	T;T;T;T	0.31247	1.98;1.97;1.5;1.5	3.96	3.96	0.45880	.	0.164767	0.52532	D	0.000072	T	0.58836	0.2150	M	0.86953	2.85	0.49130	D	0.999758	D;D;P	0.89917	1.0;0.994;0.892	D;P;P	0.75020	0.985;0.863;0.682	T	0.67757	-0.5588	10	0.72032	D	0.01	.	13.4727	0.61290	0.0:0.0:1.0:0.0	.	72;216;216	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	Q	216;216;62;72	ENSP00000424601:E216Q;ENSP00000323816:E216Q;ENSP00000424880:E62Q;ENSP00000426932:E72Q	ENSP00000323816:E216Q	E	+	1	0	AHRR	477018	1.000000	0.71417	0.508000	0.27688	0.008000	0.06430	8.699000	0.91316	1.749000	0.51849	0.491000	0.48974	GAG		0.682	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		19	45	0	0	0	1	0	19	45					C	424018	G	C	424018	3	2	495	1	0	0	0	0	1	0	0	0	417	1059	37	4	672	4	AHRR	5	424018	Missense_Mutation	SNP	G	TCGA-MK-A84Z-01A-11D-A397-08		424018	180491242	6	10107											
GRIA1	2890	broad.mit.edu	37	chr5	153174277	153174277	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaagggcgagtgcggcagCgggggaggtgattccaaggt	20	7	0	1			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr5:153174277C>T	ENST00000285900.5	+	14	2710	c.2367C>T	c.(2365-2367)agC>agT	p.S789S	GRIA1_ENST00000340592.5_Intron|GRIA1_ENST00000518783.1_Silent_p.S799S|GRIA1_ENST00000448073.4_Intron|GRIA1_ENST00000521843.2_Silent_p.S720S|GRIA1_ENST00000518142.1_Silent_p.S709S	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	789					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	AGTGCGGCAGCGGGGGAGGTG	0.463																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(2365-2367)agC>agT		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						50	52	52					5																	153174277		2203	4300	6503	SO:0001819	synonymous_variant	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153174277C>T		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2367C>T	5.37:g.153174277C>T						GRIA1_ENST00000518783.1_Silent_p.S799S|GRIA1_ENST00000448073.4_Intron|GRIA1_ENST00000518142.1_Silent_p.S709S|GRIA1_ENST00000521843.2_Silent_p.S720S|GRIA1_ENST00000340592.5_Intron	p.S789S	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		14	2710	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	789					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	37	c.2367C>T	CCDS4322.1																																																																																				0.463	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			16	23	0	0	0	1	0	16	23					T	153174277	C	T	153174277	2	4	495	1	0	0	0	0	0	0	0	1	6767	767	27	1		1	GRIA1	5	153174277	Silent	SNP	C	TCGA-MK-A84Z-01A-11D-A397-08	152750259	153174277	27740983	7	10108											
CPEB4	80315	broad.mit.edu	37	chr5	173317377	173317377	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaatttcccccatcatgTcagccctggctttggaggca	8	13	3	0			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr5:173317377T>G	ENST00000265085.5	+	1	2095	c.641T>G	c.(640-642)gTc>gGc	p.V214G	CPEB4_ENST00000519835.1_Missense_Mutation_p.V214G|CPEB4_ENST00000517880.1_5'Flank|CPEB4_ENST00000520867.1_Missense_Mutation_p.V214G|CPEB4_ENST00000334035.5_Missense_Mutation_p.V214G|CPEB4_ENST00000522336.1_5'Flank	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	214					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CCCCATCATGTCAGCCCTGGC	0.512																																						ENST00000265085.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20						c.(640-642)gTc>gGc		cytoplasmic polyadenylation element binding protein 4							101	106	104					5																	173317377		2203	4300	6503	SO:0001583	missense	80315						nucleotide binding|RNA binding	g.chr5:173317377T>G	BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"RNA binding motif (RRM) containing"	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.641T>G	5.37:g.173317377T>G	ENSP00000265085:p.Val214Gly					CPEB4_ENST00000519835.1_Missense_Mutation_p.V214G|CPEB4_ENST00000334035.5_Missense_Mutation_p.V214G|CPEB4_ENST00000520867.1_Missense_Mutation_p.V214G	p.V214G	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		1	2095	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	214					B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Missense_Mutation	SNP	ENST00000265085.5	37	c.641T>G	CCDS4390.1	.	.	.	.	.	.	.	.	.	.	T	16.45	3.127075	0.56721	.	.	ENSG00000113742	ENST00000265085;ENST00000520867;ENST00000334035;ENST00000519835	T;T;T;T	0.57907	0.37;0.4;0.41;0.38	5.62	5.62	0.85841	.	0.108367	0.64402	D	0.000008	T	0.52996	0.1769	L	0.29908	0.895	0.80722	D	1	B;B;P;P	0.38020	0.444;0.202;0.615;0.615	B;B;P;P	0.46850	0.231;0.164;0.529;0.529	T	0.57189	-0.7854	10	0.66056	D	0.02	-12.106	15.8225	0.78667	0.0:0.0:0.0:1.0	.	214;214;214;214	B7ZLQ8;Q17RY0-2;E5RJM0;Q17RY0	.;.;.;CPEB4_HUMAN	G	214	ENSP00000265085:V214G;ENSP00000429092:V214G;ENSP00000334533:V214G;ENSP00000429048:V214G	ENSP00000265085:V214G	V	+	2	0	CPEB4	173249983	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.036000	0.70948	2.138000	0.66242	0.533000	0.62120	GTC		0.512	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		46	68	0	0	0	1	0	46	68					G	173317377	T	G	173317377	3	3	495	1	0	0	0	0	1	0	0	0	3803	1667	58	5	643	5	CPEB4	5	173317377	Missense_Mutation	SNP	T	TCGA-MK-A84Z-01A-11D-A397-08	20143100	173317377	7597883	8	10109											
SLC29A1	2030	broad.mit.edu	37	chr6	44198386	44198386	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgaccatcatctgttaccTgggcctgccccgcctggtga	10	14	2	2			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr6:44198386T>C	ENST00000393841.1	+	8	1162	c.671T>C	c.(670-672)cTg>cCg	p.L224P	SLC29A1_ENST00000371731.1_Missense_Mutation_p.L224P|SLC29A1_ENST00000393844.1_Missense_Mutation_p.L224P|SLC29A1_ENST00000313248.7_Missense_Mutation_p.L303P|SLC29A1_ENST00000371755.3_Missense_Mutation_p.L224P|SLC29A1_ENST00000371724.1_Missense_Mutation_p.L224P|SLC29A1_ENST00000371713.1_Missense_Mutation_p.L224P|SLC29A1_ENST00000371740.5_Missense_Mutation_p.L224P|SLC29A1_ENST00000371708.1_Missense_Mutation_p.L224P|SLC29A1_ENST00000427851.2_Missense_Mutation_p.L224P|SLC29A1_ENST00000472176.1_3'UTR	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	224					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	ATCTGTTACCTGGGCCTGCCC	0.547																																						ENST00000393841.1																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17						c.(670-672)cTg>cCg		solute carrier family 29 (equilibrative nucleoside transporter), member 1	Troglitazone(DB00197)						71	69	70					6																	44198386		2203	4300	6503	SO:0001583	missense	2030				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding	g.chr6:44198386T>C	U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"Solute carriers"	11003	protein-coding gene	gene with protein product		602193	"solute carrier family 29 (nucleoside transporters), member 1"	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.671T>C	6.37:g.44198386T>C	ENSP00000377424:p.Leu224Pro					SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371708.1_Missense_Mutation_p.L224P|SLC29A1_ENST00000371731.1_Missense_Mutation_p.L224P|SLC29A1_ENST00000427851.2_Missense_Mutation_p.L224P|SLC29A1_ENST00000371724.1_Missense_Mutation_p.L224P|SLC29A1_ENST00000313248.7_Missense_Mutation_p.L303P|SLC29A1_ENST00000371755.3_Missense_Mutation_p.L224P|SLC29A1_ENST00000371740.5_Missense_Mutation_p.L224P|SLC29A1_ENST00000371713.1_Missense_Mutation_p.L224P|SLC29A1_ENST00000393844.1_Missense_Mutation_p.L224P	p.L224P	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		8	1162	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		224					B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Missense_Mutation	SNP	ENST00000393841.1	37	c.671T>C	CCDS4908.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.347486	0.82022	.	.	ENSG00000112759	ENST00000393844;ENST00000313248;ENST00000427851;ENST00000371755;ENST00000371740;ENST00000371731;ENST00000393841;ENST00000371724;ENST00000371713;ENST00000371708	D;D;D;D;D;D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7	5.52	5.52	0.82312	.	0.440201	0.22580	N	0.058232	D	0.89518	0.6738	M	0.83012	2.62	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.71184	0.972;0.966	D	0.91124	0.4932	10	0.72032	D	0.01	-2.1742	14.23	0.65885	0.0:0.0:0.0:1.0	.	303;224	B3KQV7;Q99808	.;S29A1_HUMAN	P	224;303;224;224;224;224;224;224;224;224	ENSP00000377427:L224P;ENSP00000319152:L303P;ENSP00000392668:L224P;ENSP00000360820:L224P;ENSP00000360805:L224P;ENSP00000360796:L224P;ENSP00000377424:L224P;ENSP00000360789:L224P;ENSP00000360778:L224P;ENSP00000360773:L224P	ENSP00000319152:L303P	L	+	2	0	SLC29A1	44306364	0.336000	0.24757	1.000000	0.80357	0.999000	0.98932	3.615000	0.54167	2.091000	0.63221	0.533000	0.62120	CTG		0.547	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040721.1			14	36	0	0	0	1	0	14	36					C	44198386	T	C	44198386	3	2	495	1	0	0	0	0	1	0	0	0	14534	1580	55	3	693	3	SLC29A1	6	44198386	Missense_Mutation	SNP	T	TCGA-MK-A84Z-01A-11D-A397-08		44198386	126916681	9	10110											
C6orf70	55780	broad.mit.edu	37	chr6	170159117	170159117	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggtctcaacctgcgtaaCgtcttatggcatgggtttgc	12	9	2	0			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr6:170159117C>T	ENST00000366773.3	+	6	594	c.561C>T	c.(559-561)aaC>aaT	p.N187N	ERMARD_ENST00000418781.3_Silent_p.N187N|ERMARD_ENST00000392095.4_Silent_p.N61N|ERMARD_ENST00000366772.2_Silent_p.N187N|ERMARD_ENST00000588451.1_Silent_p.N61N	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	187					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											ACCTGCGTAACGTCTTATGGC	0.378																																						ENST00000588451.1																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20						c.(181-183)aaC>aaT									215	193	200					6																	170159117		2203	4300	6503	SO:0001819	synonymous_variant	0					integral to membrane		g.chr6:170159117C>T	AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"chromosome 6 open reading frame 70"	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.561C>T	6.37:g.170159117C>T						C6orf70_ENST00000392095.4_Silent_p.N61N|C6orf70_ENST00000418781.3_Silent_p.N187N|C6orf70_ENST00000366772.2_Silent_p.N187N|C6orf70_ENST00000366773.3_Silent_p.N187N	p.N61N			Q5T6L9	CF070_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)	6	696	+		Breast(66;5.08e-05)|Ovarian(120;0.208)	187					B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Silent	SNP	ENST00000366773.3	37	c.183C>T	CCDS34576.1																																																																																				0.378	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341		36	67	0	0	0	1	0	36	67					T	170159117	C	T	170159117	2	4	495	1	0	0	0	0	0	0	0	1	2370	535	19	1		1	C6orf70	6	170159117	Silent	SNP	C	TCGA-MK-A84Z-01A-11D-A397-08	125960731	170159117	955950	10	10111											
PPP1R3A	5506	broad.mit.edu	37	chr7	113519446	113519446	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggggattgcggtatgttcGctcagcagagtagccaggtc	16	8	1	1			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr7:113519446G>A	ENST00000284601.3	-	4	1769	c.1701C>T	c.(1699-1701)agC>agT	p.S567S		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	567					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CGGTATGTTCGCTCAGCAGAG	0.473																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(1699-1701)agC>agT		protein phosphatase 1, regulatory subunit 3A							120	111	114					7																	113519446		2203	4300	6503	SO:0001819	synonymous_variant	5506				glycogen metabolic process	integral to membrane		g.chr7:113519446G>A	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1701C>T	7.37:g.113519446G>A							p.S567S	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	1769	-			567					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	ENST00000284601.3	37	c.1701C>T	CCDS5759.1																																																																																				0.473	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		29	56	0	0	0	1	0	29	56					A	113519446	G	A	113519446	2	1	495	1	0	0	0	0	0	0	0	1	12371	1078	38	1		1	PPP1R3A	7	113519446	Silent	SNP	G	TCGA-MK-A84Z-01A-11D-A397-08		113519446	45619217	11	10112											
GIMAP6	474344	broad.mit.edu	37	chr7	150325064	150325064	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctcgcagttgggcctcctGctcctccccctgtgccctgt	9	19	1	0			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr7:150325064G>T	ENST00000328902.5	-	3	838	c.622C>A	c.(622-624)Cag>Aag	p.Q208K	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	208	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGGCCTCCTGCTCCTCCCCC	0.537																																						ENST00000328902.5																			0				endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(622-624)Cag>Aag		GTPase, IMAP family member 6							120	126	124					7																	150325064		2203	4300	6503	SO:0001583	missense	474344						GTP binding	g.chr7:150325064G>T	AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"GTPases, IMAP"	21918	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 6"					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.622C>A	7.37:g.150325064G>T	ENSP00000330374:p.Gln208Lys					GIMAP6_ENST00000493969.1_3'UTR	p.Q208K	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	838	-			208					C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Missense_Mutation	SNP	ENST00000328902.5	37	c.622C>A	CCDS34778.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.711372	0.30322	.	.	ENSG00000133561	ENST00000328902;ENST00000392862	T	0.04654	3.58	4.33	3.42	0.39159	AIG1 (1);	0.702252	0.14130	N	0.339431	T	0.04861	0.0131	L	0.33093	0.98	0.28861	N	0.895495	P;P	0.37441	0.595;0.563	B;B	0.39840	0.311;0.072	T	0.31081	-0.9956	10	0.17369	T	0.5	.	9.1696	0.37072	0.0:0.0:0.7827:0.2173	.	208;128	Q6P9H5;Q6P9H5-2	GIMA6_HUMAN;.	K	208;269	ENSP00000330374:Q208K	ENSP00000330374:Q208K	Q	-	1	0	GIMAP6	149955997	0.003000	0.15002	0.996000	0.52242	0.087000	0.18053	1.419000	0.34793	1.006000	0.39211	0.655000	0.94253	CAG		0.537	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1	NM_024711		77	100	1	0	5.04879e-28	1	5.21165e-28	77	100					T	150325064	G	T	150325064	3	4	495	1	0	0	0	0	1	0	0	0	6383	1328	46	4	260	4	GIMAP6	7	150325064	Missense_Mutation	SNP	G	TCGA-MK-A84Z-01A-11D-A397-08	36805618	150325064	8813599	12	10113											
BAI1	575	broad.mit.edu	37	chr8	143623463	143623463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccaagctgcacctgcacGgctcaccccgctatcccggc	9	19	1	0			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr8:143623463G>A	ENST00000517894.1	+	28	4762	c.3868G>A	c.(3868-3870)Ggc>Agc	p.G1290S	BAI1_ENST00000323289.5_Missense_Mutation_p.G1290S			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1290					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GCACCTGCACGGCTCACCCCG	0.662																																						ENST00000517894.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(3868-3870)Ggc>Agc		brain-specific angiogenesis inhibitor 1							29	35	33					8																	143623463		2080	4205	6285	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143623463G>A	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"-", "GPCR / Class B : Orphans"	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3868G>A	8.37:g.143623463G>A	ENSP00000430945:p.Gly1290Ser					BAI1_ENST00000323289.5_Missense_Mutation_p.G1290S	p.G1290S			O14514	BAI1_HUMAN			28	4762	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		1290						Missense_Mutation	SNP	ENST00000517894.1	37	c.3868G>A		.	.	.	.	.	.	.	.	.	.	g	14.89	2.670105	0.47677	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.26067	1.76;1.76	4.26	2.43	0.29744	.	0.266203	0.26286	N	0.025248	T	0.09818	0.0241	N	0.16478	0.41	0.36386	D	0.862247	P	0.42871	0.792	B	0.30782	0.12	T	0.27020	-1.0086	10	0.10377	T	0.69	.	8.5111	0.33217	0.191:0.0:0.809:0.0	.	1290	E9PBK0	.	S	1290	ENSP00000430945:G1290S;ENSP00000313046:G1290S	ENSP00000313046:G1290S	G	+	1	0	BAI1	143620465	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.947000	0.56652	0.770000	0.33336	0.586000	0.80456	GGC		0.662	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		14	21	0	0	0	1	0	14	21					A	143623463	G	A	143623463	3	1	495	1	0	0	0	0	1	0	0	0	1298	1116	39	1	3974	1	BAI1	8	143623463	Missense_Mutation	SNP	G	TCGA-MK-A84Z-01A-11D-A397-08		143623463	2740559	13	10114											
KLF4	9314	broad.mit.edu	37	chr9	110249320	110249320	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tccccctacctgtgtgggttCgcaggtgtgccttgagatgg	14	11	0	1			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr9:110249320C>A	ENST00000374672.4	-	4	1726	c.1253G>T	c.(1252-1254)cGa>cTa	p.R418L		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	452					cellular response to cycloheximide (GO:0071409)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to peptide (GO:1901653)|epidermal cell differentiation (GO:0009913)|epidermis morphogenesis (GO:0048730)|fat cell differentiation (GO:0045444)|mesodermal cell fate determination (GO:0007500)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of muscle hyperplasia (GO:0014740)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic camera-type eye development (GO:0031077)|post-embryonic hemopoiesis (GO:0035166)|regulation of cell differentiation (GO:0045595)|response to retinoic acid (GO:0032526)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|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 transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001010)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						TGTGTGGGTTCGCAGGTGTGC	0.587																																						ENST00000374672.4																			0				breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						c.(1252-1254)cGa>cTa		Kruppel-like factor 4 (gut)							270	240	250					9																	110249320		2203	4300	6503	SO:0001583	missense	9314				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr9:110249320C>A	AF022184	CCDS6770.2	9q31	2013-01-08			ENSG00000136826	ENSG00000136826		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6348	protein-coding gene	gene with protein product		602253				9422764, 16372018	Standard	NM_004235		Approved	EZF, GKLF	uc004bdg.3	O43474	OTTHUMG00000020449	ENST00000374672.4:c.1253G>T	9.37:g.110249320C>A	ENSP00000363804:p.Arg418Leu						p.R418L	NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN			4	1726	-			452					B2R8S4|B3KT79|L0R3I6|L0R4N5|P78338|Q5T3J8|Q5T3J9|Q8N717|Q9UNP3	Missense_Mutation	SNP	ENST00000374672.4	37	c.1253G>T	CCDS6770.2	.	.	.	.	.	.	.	.	.	.	C	32	5.189296	0.94923	.	.	ENSG00000136826	ENST00000374672	T	0.25085	1.82	5.57	4.64	0.57946	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.552432	0.13767	N	0.364128	T	0.46034	0.1372	L	0.54908	1.71	0.80722	D	1	P;D	0.61080	0.916;0.989	P;D	0.63033	0.587;0.91	T	0.40251	-0.9573	10	0.87932	D	0	.	15.7358	0.77842	0.0:0.8627:0.1373:0.0	.	452;418	O43474;O43474-1	KLF4_HUMAN;.	L	418	ENSP00000363804:R418L	ENSP00000363804:R418L	R	-	2	0	KLF4	109289141	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.784000	0.85713	1.281000	0.44480	0.655000	0.94253	CGA		0.587	KLF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053556.2	NM_004235		66	92	1	0	1.05635e-38	1	1.12677e-38	66	92					A	110249320	C	A	110249320	3	1	495	1	0	0	0	0	1	0	0	0	8348	884	31	4	194	4	KLF4	9	110249320	Missense_Mutation	SNP	C	TCGA-MK-A84Z-01A-11D-A397-08		110249320	30964111	14	10115											
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	14	13	0	0	rs121913233		TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117	102	107					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)				HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R	p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		37	57	0	0	0	1	0	37	57					C	533874	T	C	533874	3	2	495	1	0	0	0	0	1	0	0	0	7348	1580	55	3	466	3	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-MK-A84Z-01A-11D-A397-08		533874	134472642	15	10116											
TEAD1	7003	broad.mit.edu	37	chr11	12923583	12923583	+	Frame_Shift_Del	DEL	T	T	-													ttcgtcagatttatgacaaaTttcctgaaaagaaaggtggc							TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr11:12923583delT	ENST00000526600.1	+	5	731	c.508delT	c.(508-510)tttfs	p.F170fs	TEAD1_ENST00000527636.1_Frame_Shift_Del_p.F266fs|TEAD1_ENST00000361905.4_Frame_Shift_Del_p.F251fs|TEAD1_ENST00000334310.6_Intron|TEAD1_ENST00000527575.1_Intron|TEAD1_ENST00000361985.2_Frame_Shift_Del_p.F266fs|SCARNA16_ENST00000516520.1_RNA			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	266	Pro-rich.|Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TTATGACAAATTTCCTGAAAA	0.423																																						ENST00000361905.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17						c.(751-753)ttfs		TEA domain family member 1 (SV40 transcriptional enhancer factor)							195	192	193					11																	12923583		2200	4294	6494	SO:0001589	frameshift_variant	7003				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:12923583delT	X84839	CCDS7810.1, CCDS7810.2	11p15.4	2008-11-12				ENSG00000187079			11714	protein-coding gene	gene with protein product		189967	"atrophia areata, peripapillary chorioretinal degeneration"	TCF13, AA		1851669, 9889009, 15016762	Standard	NM_021961		Approved	TEF-1	uc021qdx.1	P28347		ENST00000526600.1:c.508delT	11.37:g.12923583delT	ENSP00000435393:p.Phe170fs					TEAD1_ENST00000334310.6_Intron|TEAD1_ENST00000361985.2_Frame_Shift_Del_p.F266fs|TEAD1_ENST00000526600.1_Frame_Shift_Del_p.F170fs|TEAD1_ENST00000527575.1_Intron|TEAD1_ENST00000527636.1_Frame_Shift_Del_p.F266fs	p.F251fs	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN		Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)	10	1416	+			266			Transcriptional activation (Potential).		A4FUP2|E7EV65	Frame_Shift_Del	DEL	ENST00000526600.1	37	c.751delT																																																																																					0.423	TEAD1-007	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000387220.1	NM_021961		16	183						16	183	---	---	---	---	-	12923583	T	-	12923583	7	5	495	1	0	1	0	1	0	0	0	0	15735	1493	52	0	826	0	TEAD1	11	12923583	Frame_Shift_Del	DEL	T	TCGA-MK-A84Z-01A-11D-A397-08	12389709	12923583	122082933	16	10117											
RPS6KA4	8986	broad.mit.edu	37	chr11	64135606	64135606	+	Frame_Shift_Del	DEL	A	A	-													cggactcccgccctgcagggAtactcctttgtggcaccctc							TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr11:64135606delA	ENST00000334205.4	+	10	1139	c.1074delA	c.(1072-1074)ggafs	p.G358fs	RPS6KA4_ENST00000294261.4_Frame_Shift_Del_p.G358fs|RPS6KA4_ENST00000528057.1_Frame_Shift_Del_p.G358fs|MIR1237_ENST00000408346.1_RNA	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	358	AGC-kinase C-terminal.				axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						CCCTGCAGGGATACTCCTTTG	0.642																																						ENST00000528057.1																			0				breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						c.(1072-1074)ggfs		ribosomal protein S6 kinase, 90kDa, polypeptide 4							58	55	56					11																	64135606		2201	4297	6498	SO:0001589	frameshift_variant	8986				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity	g.chr11:64135606delA	AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"ribosomal protein S6 kinase, 90kD, polypeptide 4"			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.1074delA	11.37:g.64135606delA	ENSP00000333896:p.Gly358fs					RPS6KA4_ENST00000334205.4_Frame_Shift_Del_p.G358fs|RPS6KA4_ENST00000294261.4_Frame_Shift_Del_p.G358fs	p.G358fs	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN			10	1162	+			358			AGC-kinase C-terminal.		A8K7Z8|O75585|Q53ES8	Frame_Shift_Del	DEL	ENST00000334205.4	37	c.1074delA	CCDS8073.1																																																																																				0.642	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106246.2	NM_003942		11	36						11	36	---	---	---	---	-	64135606	A	-	64135606	7	5	495	1	0	1	0	1	0	0	0	0	13653	320	12	0	1112	0	RPS6KA4	11	64135606	Frame_Shift_Del	DEL	A	TCGA-MK-A84Z-01A-11D-A397-08	51212023	64135606	70870910	17	10118											
ABCC9	10060	broad.mit.edu	37	chr12	22048219	22048219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtcttacagcaagaacaGctgctatgggaattgctgca	11	8	1	1			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr12:22048219G>A	ENST00000261201.4	-	11	1648	c.1649C>T	c.(1648-1650)gCt>gTt	p.A550V	ABCC9_ENST00000261200.4_Missense_Mutation_p.A550V|ABCC9_ENST00000345162.2_Missense_Mutation_p.A550V	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	550	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	AGCAAGAACAGCTGCTATGGG	0.313																																						ENST00000261200.4																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(1648-1650)gCt>gTt		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						102	103	103					12																	22048219		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22048219G>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.1649C>T	12.37:g.22048219G>A	ENSP00000261201:p.Ala550Val					ABCC9_ENST00000261201.4_Missense_Mutation_p.A550V|ABCC9_ENST00000345162.2_Missense_Mutation_p.A550V	p.A550V	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			11	1648	-			550			ABC transmembrane type-1 1.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.1649C>T	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.929121	0.34096	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62	4.85	4.85	0.62838	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	T	0.81019	0.4736	N	0.11845	0.185	0.80722	D	1	B;B	0.18863	0.031;0.012	B;B	0.23018	0.043;0.008	T	0.75508	-0.3293	10	0.02654	T	1	-16.1412	17.7535	0.88442	0.0:0.0:1.0:0.0	.	550;550	O60706;O60706-2	ABCC9_HUMAN;.	V	550;213;550;550	ENSP00000261200:A550V;ENSP00000440521:A213V;ENSP00000261201:A550V;ENSP00000261202:A550V	ENSP00000261200:A550V	A	-	2	0	ABCC9	21939486	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.256000	0.95535	2.503000	0.84419	0.655000	0.94253	GCT		0.313	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		13	24	0	0	0	1	0	13	24					A	22048219	G	A	22048219	3	1	495	1	0	0	0	0	1	0	0	0	59	971	34	2	3254	2	ABCC9	12	22048219	Missense_Mutation	SNP	G	TCGA-MK-A84Z-01A-11D-A397-08		22048219	111803676	18	10119											
TAOK3	51347	broad.mit.edu	37	chr12	118598096	118598096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaactggtgattcttgagtGctttatactgtttggtctgt	10	7	2	2			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr12:118598096G>A	ENST00000392533.3	-	19	2697	c.2207C>T	c.(2206-2208)gCa>gTa	p.A736V	TAOK3_ENST00000543709.1_5'UTR|TAOK3_ENST00000537952.1_Missense_Mutation_p.A276V|TAOK3_ENST00000419821.2_Missense_Mutation_p.A736V	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	736					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATTCTTGAGTGCTTTATACTG	0.368																																						ENST00000392533.3																			0				central_nervous_system(1)|lung(5)|skin(1)	7						c.(2206-2208)gCa>gTa		TAO kinase 3							267	239	249					12																	118598096		2203	4300	6503	SO:0001583	missense	51347				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:118598096G>A	AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.2207C>T	12.37:g.118598096G>A	ENSP00000376317:p.Ala736Val					TAOK3_ENST00000537952.1_Missense_Mutation_p.A276V|TAOK3_ENST00000419821.2_Missense_Mutation_p.A736V|TAOK3_ENST00000543709.1_5'UTR	p.A736V	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN			19	2697	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		736					Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Missense_Mutation	SNP	ENST00000392533.3	37	c.2207C>T	CCDS9188.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371979	0.82573	.	.	ENSG00000135090	ENST00000419821;ENST00000392533;ENST00000537952	T;T;T	0.73469	-0.75;-0.75;1.34	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.74291	0.3697	M	0.66939	2.045	0.80722	D	1	B	0.33512	0.415	B	0.32211	0.142	T	0.74618	-0.3605	10	0.46703	T	0.11	.	19.1238	0.93374	0.0:0.0:1.0:0.0	.	736	Q9H2K8	TAOK3_HUMAN	V	736;736;276	ENSP00000416374:A736V;ENSP00000376317:A736V;ENSP00000443834:A276V	ENSP00000376317:A736V	A	-	2	0	TAOK3	117082479	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.601000	0.98297	2.752000	0.94435	0.557000	0.71058	GCA		0.368	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281		34	66	0	0	0	1	0	34	66					A	118598096	G	A	118598096	3	1	495	1	0	0	0	0	1	0	0	0	15546	1319	46	2	501	2	TAOK3	12	118598096	Missense_Mutation	SNP	G	TCGA-MK-A84Z-01A-11D-A397-08	96549877	118598096	15253799	19	10120											
SLC25A15	10166	broad.mit.edu	37	chr13	41379306	41379306	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctctgcctttgctgcactgGtgctctgccccacggagctc	10	17	2	0			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr13:41379306G>C	ENST00000338625.4	+	4	603	c.367G>C	c.(367-369)Gtg>Ctg	p.V123L	SLC25A15_ENST00000478827.1_3'UTR	NM_014252.3	NP_055067.1	Q9Y619	ORNT1_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15	123					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|L-ornithine transmembrane transport (GO:1903352)|mitochondrial ornithine transport (GO:0000066)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	L-ornithine transmembrane transporter activity (GO:0000064)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|stomach(1)|urinary_tract(1)	14		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704)	L-Ornithine(DB00129)	TGCTGCACTGGTGCTCTGCCC	0.542																																						ENST00000338625.4																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|stomach(1)|urinary_tract(1)	14						c.(367-369)Gtg>Ctg		solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15	L-Ornithine(DB00129)						105	94	98					13																	41379306		2203	4300	6503	SO:0001583	missense	10166				cellular amino acid metabolic process|mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	g.chr13:41379306G>C	AF112968	CCDS9373.1	13q14	2013-05-22			ENSG00000102743	ENSG00000102743		"Solute carriers"	10985	protein-coding gene	gene with protein product	"ornithine transporter 1"	603861		ORNT1, HHH		10369256	Standard	NM_014252		Approved	ORC1, D13S327	uc001uxn.3	Q9Y619	OTTHUMG00000016776	ENST00000338625.4:c.367G>C	13.37:g.41379306G>C	ENSP00000342267:p.Val123Leu					SLC25A15_ENST00000478827.1_3'UTR	p.V123L	NM_014252.3	NP_055067.1	Q9Y619	ORNT1_HUMAN		all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704)	4	603	+		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)	123					Q5VZD8|Q9HC45	Missense_Mutation	SNP	ENST00000338625.4	37	c.367G>C	CCDS9373.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.772355	0.69992	.	.	ENSG00000102743	ENST00000338625;ENST00000443985	T	0.80214	-1.35	5.62	5.62	0.85841	Mitochondrial carrier domain (2);	0.054814	0.64402	D	0.000001	D	0.82751	0.5105	L	0.56769	1.78	0.58432	D	0.999997	P;B	0.46142	0.873;0.017	P;B	0.48921	0.595;0.042	T	0.79378	-0.1828	10	0.23302	T	0.38	.	18.6386	0.91386	0.0:0.0:1.0:0.0	.	63;123	B4DL63;Q9Y619	.;ORNT1_HUMAN	L	123;63	ENSP00000342267:V123L	ENSP00000342267:V123L	V	+	1	0	SLC25A15	40277306	1.000000	0.71417	1.000000	0.80357	0.426000	0.31534	9.744000	0.98853	2.651000	0.90000	0.650000	0.86243	GTG		0.542	SLC25A15-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276149.2	NM_014252		22	38	0	0	0	1	0	22	38					C	41379306	G	C	41379306	3	2	495	1	0	0	0	0	1	0	0	0	14477	1261	44	4	377	4	SLC25A15	13	41379306	Missense_Mutation	SNP	G	TCGA-MK-A84Z-01A-11D-A397-08		41379306	73790572	20	10121											
FMN1	342184	broad.mit.edu	37	chr15	33261517	33261517	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctgaaggtctttggaggGcagtcatcatcggtggaaat	13	6	4	1			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr15:33261517G>A	ENST00000559047.1	-	5	2384	c.2385C>T	c.(2383-2385)tgC>tgT	p.C795C	SNORD77_ENST00000391113.1_RNA|FMN1_ENST00000334528.9_Silent_p.C572C|FMN1_ENST00000561249.1_Silent_p.C697C			Q68DA7	FMN1_HUMAN	formin 1	795	Mediates interaction with alpha-catenin. {ECO:0000250}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TCTTTGGAGGGCAGTCATCAT	0.458																																						ENST00000334528.9																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(1714-1716)tgC>tgT		formin 1							418	385	396					15																	33261517		2011	4184	6195	SO:0001819	synonymous_variant	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33261517G>A	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"limb deformity protein"	136535	"formin (limb deformity)"	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2385C>T	15.37:g.33261517G>A						FMN1_ENST00000559047.1_Silent_p.C795C|FMN1_ENST00000561249.1_Silent_p.C697C	p.C572C	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	4	1715	-		all_lung(180;1.14e-07)	795			Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity).		Q3B7I6|Q3ZAR4|Q6ZSY1	Silent	SNP	ENST00000559047.1	37	c.1716C>T																																																																																					0.458	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		5	335	0	0	0	1	0	5	335					A	33261517	G	A	33261517	2	1	495	1	0	0	0	0	0	0	0	1	5949	1195	42	2		2	FMN1	15	33261517	Silent	SNP	G	TCGA-MK-A84Z-01A-11D-A397-08		33261517	69269875	21	10122											
RAP1GAP2	23108	broad.mit.edu	37	chr17	2929686	2929688	+	In_Frame_Del	DEL	CTC	CTC	-													aacggccgtgccatctcccgCtcctcctccagcaccagcag							TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr17:2929686_2929688delCTC	ENST00000254695.8	+	21	1998_2000	c.1908_1910delCTC	c.(1906-1911)cgctcc>cgc	p.S640del	RAP1GAP2_ENST00000542807.1_In_Frame_Del_p.S640del|RAP1GAP2_ENST00000540393.2_In_Frame_Del_p.S621del|RAP1GAP2_ENST00000366401.4_In_Frame_Del_p.S625del	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	640	Ser-rich.				negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CCATCTCCCGCTCCTCCTCCAGC	0.665																																						ENST00000254695.8																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(1906-1911)cgc>cg		RAP1 GTPase activating protein 2																																				SO:0001651	inframe_deletion	23108				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity	g.chr17:2929686_2929688delCTC	AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"GTPase activating RANGAP domain-like 4", "GTPase activating Rap/RanGAP domain-like 4"	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.1908_1910delCTC	17.37:g.2929692_2929694delCTC	ENSP00000254695:p.Ser640del					RAP1GAP2_ENST00000540393.2_In_Frame_Del_p.RS617del|RAP1GAP2_ENST00000542807.1_In_Frame_Del_p.RS636del|RAP1GAP2_ENST00000366401.4_In_Frame_Del_p.RS621del	p.RS636del	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN			21	1998_2000	+			636			Ser-rich.		B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	In_Frame_Del	DEL	ENST00000254695.8	37	c.1908_1910delCTC	CCDS45573.1																																																																																				0.665	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438208.2			2	4						2	4	---	---	---	---	-	2929688	CTC	-	2929686	7	5	495	1	0	1	0	1	0	0	0	0	13038	784	28	0	1990	0	RAP1GAP2	17	2929686	In_Frame_Del	DEL	CTC	TCGA-MK-A84Z-01A-11D-A397-08		2929686	78265524	22	10123											
ACTL9	284382	broad.mit.edu	37	chr19	8808501	8808501	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cacgaccgtgggcgtagacaGacagcaccgactgcgatgcc	13	14	0	2			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr19:8808501G>A	ENST00000324436.3	-	1	671	c.551C>T	c.(550-552)tCt>tTt	p.S184F		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	184						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GGCGTAGACAGACAGCACCGA	0.662																																						ENST00000324436.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						c.(550-552)tCt>tTt		actin-like 9							54	49	51					19																	8808501		2203	4300	6503	SO:0001583	missense	284382					cytoplasm|cytoskeleton		g.chr19:8808501G>A		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.551C>T	19.37:g.8808501G>A	ENSP00000316674:p.Ser184Phe						p.S184F	NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN			1	671	-			184					A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	37	c.551C>T	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.533521	0.64972	.	.	ENSG00000181786	ENST00000324436	D	0.97811	-4.55	4.24	4.24	0.50183	.	0.153845	0.30329	N	0.009869	D	0.99093	0.9688	H	0.96861	3.895	0.51767	D	0.999932	D	0.76494	0.999	D	0.67382	0.951	D	0.98974	1.0802	10	0.87932	D	0	.	15.7323	0.77817	0.0:0.0:1.0:0.0	.	184	Q8TC94	ACTL9_HUMAN	F	184	ENSP00000316674:S184F	ENSP00000316674:S184F	S	-	2	0	ACTL9	8669501	1.000000	0.71417	0.842000	0.33263	0.323000	0.28346	8.965000	0.93393	2.373000	0.80994	0.462000	0.41574	TCT		0.662	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		18	44	0	0	0	1	0	18	44					A	8808501	G	A	8808501	3	1	495	1	0	0	0	0	1	0	0	0	203	942	33	2	703	2	ACTL9	19	8808501	Missense_Mutation	SNP	G	TCGA-MK-A84Z-01A-11D-A397-08		8808501	50320482	23	10124											
SLC9A8	23315	broad.mit.edu	37	chr20	48500445	48500445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctggagcccatggagaagCggcagctcatcggcaccacc	12	15	1	1			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr20:48500445C>T	ENST00000361573.2	+	14	1375	c.1333C>T	c.(1333-1335)Cgg>Tgg	p.R445W	SLC9A8_ENST00000541138.1_Missense_Mutation_p.R145W|SLC9A8_ENST00000539601.1_Missense_Mutation_p.R226W|SLC9A8_ENST00000417961.1_Missense_Mutation_p.R461W			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	445					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			CATGGAGAAGCGGCAGCTCAT	0.617																																						ENST00000417961.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(1381-1383)Cgg>Tgg		solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8							132	100	111					20																	48500445		2203	4300	6503	SO:0001583	missense	23315					Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr20:48500445C>T	AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"Solute carriers"	20728	protein-coding gene	gene with protein product		612730	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 8", "solute carrier family 9 (sodium/hydrogen exchanger), member 8"			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.1333C>T	20.37:g.48500445C>T	ENSP00000354966:p.Arg445Trp					SLC9A8_ENST00000361573.2_Missense_Mutation_p.R445W|SLC9A8_ENST00000541138.1_Missense_Mutation_p.R145W|SLC9A8_ENST00000539601.1_Missense_Mutation_p.R226W	p.R461W	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	BRCA - Breast invasive adenocarcinoma(9;3.91e-07)		14	1591	+			445					B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Missense_Mutation	SNP	ENST00000361573.2	37	c.1381C>T	CCDS13421.1	.	.	.	.	.	.	.	.	.	.	C	32	5.175281	0.94807	.	.	ENSG00000197818	ENST00000417961;ENST00000361573;ENST00000541138;ENST00000539601	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.07	4.08	0.47627	Cation/H+ exchanger (1);	0.054254	0.85682	D	0.000000	T	0.50446	0.1616	M	0.92604	3.325	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.81914	0.995;0.989;0.946	T	0.64262	-0.6449	10	0.87932	D	0	.	14.8134	0.70013	0.1447:0.8553:0.0:0.0	.	145;226;445	B4DIV9;B4DIX7;Q9Y2E8	.;.;SL9A8_HUMAN	W	461;445;145;226	ENSP00000416418:R461W;ENSP00000354966:R445W;ENSP00000441615:R145W;ENSP00000441716:R226W	ENSP00000354966:R445W	R	+	1	2	SLC9A8	47933852	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.887000	0.69751	2.357000	0.79964	0.561000	0.74099	CGG		0.617	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3	XM_030524		5	69	0	0	0	1	0	5	69					T	48500445	C	T	48500445	3	4	495	1	0	0	0	0	1	0	0	0	14720	759	27	1	1387	1	SLC9A8	20	48500445	Missense_Mutation	SNP	C	TCGA-MK-A84Z-01A-11D-A397-08		48500445	14525075	24	10125											
VPS13D	55187	broad.mit.edu	37	chr1	12343708	12343708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgaggctgcctcctgaggGcattctgcacaacgtgaagt	12	10	1	3			TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr1:12343708G>A	ENST00000358136.3	+	21	5679	c.5549G>A	c.(5548-5550)gGc>gAc	p.G1850D	VPS13D_ENST00000356315.4_Missense_Mutation_p.G1850D	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)		CCTCCTGAGGGCATTCTGCAC	0.507																																						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.(5548-5550)gGc>gAc		vacuolar protein sorting 13 homolog D (S. cerevisiae)							107	104	105					1																	12343708		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12343708G>A	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.5549G>A	1.37:g.12343708G>A	ENSP00000350854:p.Gly1850Asp					VPS13D_ENST00000356315.4_Missense_Mutation_p.G1850D	p.G1850D	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	5679	+	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)	1850						Missense_Mutation	SNP	ENST00000358136.3	37	c.5549G>A	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.006|0.006	-2.020909|-2.020909	0.00418|0.00418	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.50277	.|0.75;0.75	5.92|5.92	3.28|3.28	0.37604|0.37604	.|.	.|0.427438	.|0.26532	.|N	.|0.023854	T|T	0.21347|0.21347	0.0514|0.0514	N|N	0.04508|0.04508	-0.205|-0.205	0.80722|0.80722	D|D	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.001;0.0	T|T	0.04752|0.04752	-1.0929|-1.0929	5|10	.|0.12430	.|T	.|0.62	.|.	8.5355|8.5355	0.33360|0.33360	0.8073:0.0:0.1927:0.0|0.8073:0.0:0.1927:0.0	.|.	.|1850;1850	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	T|D	673|1850	.|ENSP00000348666:G1850D;ENSP00000350854:G1850D	.|ENSP00000348666:G1850D	A|G	+|+	1|2	0|0	VPS13D|VPS13D	12266295|12266295	0.963000|0.963000	0.33076|0.33076	0.467000|0.467000	0.27180|0.27180	0.191000|0.191000	0.23601|0.23601	2.248000|2.248000	0.43160|0.43160	0.368000|0.368000	0.24481|0.24481	-0.367000|-0.367000	0.07326|0.07326	GCA|GGC		0.507	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		4	115	0	0	0	1	0	4	115					A	12343708	G	A	12343708	3	1	496	1	0	0	0	0	1	0	0	0	17189	1203	42	2	5627	2	VPS13D	1	12343708	Missense_Mutation	SNP	G	TCGA-QD-A8IV-01A-11D-A397-08		12343708	236906913	1	10126											
MMACHC	25974	broad.mit.edu	37	chr1	45974755	45974755	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctattgggcttggctcagccCtcagagaagcctagttctcc	10	13	3	1			TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr1:45974755C>G	ENST00000401061.4	+	4	997	c.717C>G	c.(715-717)ccC>ccG	p.P239P		NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	239					cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGGCTCAGCCCTCAGAGAAGC	0.622																																						ENST00000401061.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8						c.(715-717)ccC>ccG		methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						93	104	100					1																	45974755		1954	4139	6093	SO:0001819	synonymous_variant	25974						cobalamin binding	g.chr1:45974755C>G		CCDS41324.1	1p34.1	2011-05-12			ENSG00000132763	ENSG00000132763			24525	protein-coding gene	gene with protein product		609831				16311595	Standard	NM_015506		Approved	DKFZP564I122, cblC	uc009vxv.3	Q9Y4U1	OTTHUMG00000007742	ENST00000401061.4:c.717C>G	1.37:g.45974755C>G							p.P239P	NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN			4	997	+	Acute lymphoblastic leukemia(166;0.155)		239					Q5T157|Q9BRQ7	Silent	SNP	ENST00000401061.4	37	c.717C>G	CCDS41324.1																																																																																				0.622	MMACHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020864.2	NM_015506		6	113	0	0	0	1	0	6	113					G	45974755	C	G	45974755	2	3	496	1	0	0	0	0	0	0	0	1	9641	668	24	4		4	MMACHC	1	45974755	Silent	SNP	C	TCGA-QD-A8IV-01A-11D-A397-08	33631047	45974755	203275866	2	10127											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290	byFrequency	TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		neuroblastoma RAS viral (v-ras) oncogene homolog							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		69	80	0	0	0	1	0	69	80					C	115256529	T	C	115256529	3	2	496	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-QD-A8IV-01A-11D-A397-08	69281774	115256529	133994092	3	10128											
SIPA1L2	57568	broad.mit.edu	37	chr1	232649623	232649623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttcccatagaagaatttgCggtaataataggccccaagg	9	9	0	2	rs569418675		TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr1:232649623C>T	ENST00000366630.1	-	2	1821	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R488H			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	488					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GAAGAATTTGCGGTAATAATA	0.453													C|||	1	0.000199681	0	0	5008	,	,		20567	0		0	False		,,,				2504	0.001					ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(1462-1464)cGc>cAc		signal-induced proliferation-associated 1 like 2							159	149	152					1																	232649623		1902	4119	6021	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232649623C>T	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1463G>A	1.37:g.232649623C>T	ENSP00000355589:p.Arg488His					SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R488H	p.R488H			Q9P2F8	SI1L2_HUMAN			2	1821	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	488					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.1463G>A	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.165195	0.38217	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.87412	-2.25;-2.25	5.39	5.39	0.77823	.	0.127474	0.53938	D	0.000060	D	0.83843	0.5342	L	0.48877	1.53	0.45239	D	0.998245	B	0.33807	0.426	B	0.28232	0.087	T	0.83134	-0.0112	10	0.49607	T	0.09	-30.6894	19.3561	0.94414	0.0:1.0:0.0:0.0	.	488	Q9P2F8	SI1L2_HUMAN	H	488	ENSP00000355589:R488H;ENSP00000262861:R488H	ENSP00000262861:R488H	R	-	2	0	SIPA1L2	230716246	1.000000	0.71417	0.994000	0.49952	0.962000	0.63368	3.554000	0.53720	2.810000	0.96702	0.650000	0.86243	CGC		0.453	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		4	146	0	0	0	1	0	4	146					T	232649623	C	T	232649623	3	4	496	1	0	0	0	0	1	0	0	0	14330	768	27	1	3789	1	SIPA1L2	1	232649623	Missense_Mutation	SNP	C	TCGA-QD-A8IV-01A-11D-A397-08	117393094	232649623	16600998	4	10129											
MAML3	55534	broad.mit.edu	37	chr4	140811123	140811123	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgTtgctgttgctgtttctgctg	13	10	1	0	rs62344939		TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr4:140811123T>C	ENST00000509479.2	-	2	2323	c.1467A>G	c.(1465-1467)caA>caG	p.Q489Q	MAML3_ENST00000327122.5_Silent_p.Q333Q|MAML3_ENST00000398940.1_Silent_p.Q28Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgttgctgttgct	0.547																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1465-1467)caA>caG		mastermind-like 3 (Drosophila)							17	20	19					4																	140811123		2193	4294	6487	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811123T>C	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1467A>G	4.37:g.140811123T>C						MAML3_ENST00000398940.1_Silent_p.Q28Q|MAML3_ENST00000327122.5_Silent_p.Q333Q	p.Q489Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2323	-	all_hematologic(180;0.162)		489			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1467A>G	CCDS54805.1																																																																																				0.547	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			4	29	0	0	0	1	0	4	29					C	140811123	T	C	140811123	2	2	496	1	0	0	0	0	0	0	0	1	9207	1722	60	3		3	MAML3	4	140811123	Silent	SNP	T	TCGA-QD-A8IV-01A-11D-A397-08		140811123	50343153	5	10130											
RPS12	6206	broad.mit.edu	37	chr6	133138134	133138134	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaactaggagaatgggtaggCctttgtaaaattgacagaga	12	4	0	3			TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr6:133138134C>G	ENST00000230050.3	+	5	480	c.270C>G	c.(268-270)ggC>ggG	p.G90G	SNORA33_ENST00000363664.1_RNA|SNORD100_ENST00000408573.1_RNA|SNORD101_ENST00000384027.1_RNA	NM_001016.3	NP_001007.2	P25398	RS12_HUMAN	ribosomal protein S12	90					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(13)|lung(3)|urinary_tract(1)	18	Breast(56;0.214)			OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)		AATGGGTAGGCCTTTGTAAAA	0.358																																						ENST00000230050.3																			0				endometrium(1)|kidney(13)|lung(3)|urinary_tract(1)	18						c.(268-270)ggC>ggG		ribosomal protein S12							69	67	67					6																	133138134		2203	4300	6503	SO:0001819	synonymous_variant	6206				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	structural constituent of ribosome	g.chr6:133138134C>G	X53505	CCDS5164.1	6q23	2011-04-05			ENSG00000112306	ENSG00000112306		"S ribosomal proteins"	10385	protein-coding gene	gene with protein product		603660				1861993, 9582194	Standard	NM_001016		Approved	S12	uc003qdx.3	P25398	OTTHUMG00000015593	ENST00000230050.3:c.270C>G	6.37:g.133138134C>G							p.G90G	NM_001016.3	NP_001007.2	P25398	RS12_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)	5	480	+	Breast(56;0.214)		90					Q76M58	Silent	SNP	ENST00000230050.3	37	c.270C>G	CCDS5164.1																																																																																				0.358	RPS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042270.2	NM_001016		6	68	0	0	0	1	0	6	68					G	133138134	C	G	133138134	2	3	496	1	0	0	0	0	0	0	0	1	13622	726	26	4		4	RPS12	6	133138134	Silent	SNP	C	TCGA-QD-A8IV-01A-11D-A397-08		133138134	37976933	6	10131											
MLL3	58508	broad.mit.edu	37	chr7	151932951	151932951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttcagctttgacctgcctCggccacctcgccccgacagt	8	17	1	1			TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr7:151932951C>T	ENST00000262189.6	-	16	2938	c.2720G>A	c.(2719-2721)cGa>cAa	p.R907Q	KMT2C_ENST00000355193.2_Missense_Mutation_p.R907Q	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	907					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGACCTGCCTCGGCCACCTCG	0.488																																						ENST00000355193.2																			0											c.(2719-2721)cGa>cAa		lysine (K)-specific methyltransferase 2C							53	50	51					7																	151932951		2202	4295	6497	SO:0001583	missense	58508							g.chr7:151932951C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2720G>A	7.37:g.151932951C>T	ENSP00000262189:p.Arg907Gln					KMT2C_ENST00000262189.6_Missense_Mutation_p.R907Q	p.R907Q							16	2938	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2720G>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.713344	0.89112	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.87966	-2.3;-2.32	5.0	5.0	0.66597	AT hook, DNA-binding motif (1);	0.000000	0.49305	D	0.000155	D	0.91758	0.7393	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	D	0.90017	0.4125	10	0.29301	T	0.29	.	16.8371	0.85959	0.0:1.0:0.0:0.0	.	907	Q8NEZ4	MLL3_HUMAN	Q	907	ENSP00000262189:R907Q;ENSP00000347325:R907Q	ENSP00000262189:R907Q	R	-	2	0	MLL3	151563884	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.268000	0.78473	2.482000	0.83794	0.585000	0.79938	CGA		0.488	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			5	108	0	0	0	1	0	5	108					T	151932951	C	T	151932951	3	4	496	1	0	0	0	0	1	0	0	0	9622	884	31	1	12191	1	MLL3	7	151932951	Missense_Mutation	SNP	C	TCGA-QD-A8IV-01A-11D-A397-08		151932951	7205712	7	10132											
NLRP6	171389	broad.mit.edu	37	chr11	281038	281038	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctcggctccggtagccgacgGgccccggttgcagggcgacc	16	16	0	0			TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr11:281038G>C	ENST00000312165.5	+	4	1304	c.1304G>C	c.(1303-1305)gGg>gCg	p.G435A	NLRP6_ENST00000534750.1_Missense_Mutation_p.G435A	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	435	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GTAGCCGACGGGCCCCGGTTG	0.667																																						ENST00000534750.1																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(1303-1305)gGg>gCg		NLR family, pyrin domain containing 6							62	70	67					11																	281038		2202	4291	6493	SO:0001583	missense	171389					cytoplasm	ATP binding	g.chr11:281038G>C	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"Nucleotide-binding domain and leucine rich repeat containing"	22944	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"	609650	"NACHT, leucine rich repeat and PYD containing 6"	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1304G>C	11.37:g.281038G>C	ENSP00000309767:p.Gly435Ala					NLRP6_ENST00000312165.5_Missense_Mutation_p.G435A	p.G435A	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	1509	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	435			NACHT.		A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	c.1304G>C	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.496649	0.01001	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.76709	-1.04;-1.02	3.26	-6.12	0.02124	NACHT nucleoside triphosphatase (1);	1.253730	0.06029	N	0.652663	T	0.55673	0.1935	N	0.21508	0.67	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.002;0.003	T	0.45293	-0.9271	10	0.09338	T	0.73	.	5.7728	0.18263	0.1715:0.5651:0.1491:0.1142	.	435;435	E9PJZ8;P59044	.;NALP6_HUMAN	A	435	ENSP00000433617:G435A;ENSP00000309767:G435A	ENSP00000309767:G435A	G	+	2	0	NLRP6	271038	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.226000	0.09139	-1.470000	0.01888	-0.384000	0.06662	GGG		0.667	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		11	147	0	0	0	1	0	11	147					C	281038	G	C	281038	3	2	496	1	0	0	0	0	1	0	0	0	10481	1232	43	4	1318	4	NLRP6	11	281038	Missense_Mutation	SNP	G	TCGA-QD-A8IV-01A-11D-A397-08		281038	134725478	8	10133											
ARHGEF17	9828	broad.mit.edu	37	chr11	73071517	73071517	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gactcctacatttttgagttCcctcaccctgacgcccgcct	6	17	1	2			TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr11:73071517C>T	ENST00000263674.3	+	11	4709	c.4359C>T	c.(4357-4359)ttC>ttT	p.F1453F		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1453					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TTTTTGAGTTCCCTCACCCTG	0.607																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(4357-4359)ttC>ttT		Rho guanine nucleotide exchange factor (GEF) 17							109	121	117					11																	73071517		2200	4293	6493	SO:0001819	synonymous_variant	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73071517C>T	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	21726	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.4359C>T	11.37:g.73071517C>T							p.F1453F	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			11	4709	+			1453					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	ENST00000263674.3	37	c.4359C>T	CCDS8221.1																																																																																				0.607	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		59	83	0	0	0	1	0	59	83					T	73071517	C	T	73071517	2	4	496	1	0	0	0	0	0	0	0	1	900	854	30	2		2	ARHGEF17	11	73071517	Silent	SNP	C	TCGA-QD-A8IV-01A-11D-A397-08	72790479	73071517	61934999	9	10134											
CNTN5	53942	broad.mit.edu	37	chr11	100064362	100064362	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacagcctattgatttcgaGgaagagggtggacattttga	14	5	0	3			TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr11:100064362G>A	ENST00000524871.1	+	15	2141	c.1851G>A	c.(1849-1851)gaG>gaA	p.E617E	CNTN5_ENST00000528682.1_Silent_p.E617E|CNTN5_ENST00000279463.3_Silent_p.E617E|CNTN5_ENST00000418526.2_Silent_p.E543E|CNTN5_ENST00000527185.1_Silent_p.E617E|CNTN5_ENST00000524560.1_3'UTR	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	617	Ig-like C2-type 6.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TTGATTTCGAGGAAGAGGGTG	0.378																																						ENST00000524871.1																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(1849-1851)gaG>gaA		contactin 5							105	99	101					11																	100064362		1856	4093	5949	SO:0001819	synonymous_variant	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:100064362G>A	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.1851G>A	11.37:g.100064362G>A						CNTN5_ENST00000418526.2_Silent_p.E543E|CNTN5_ENST00000527185.1_Silent_p.E617E|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000279463.3_Silent_p.E617E|CNTN5_ENST00000528682.1_Silent_p.E617E	p.E617E	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	15	2141	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	617			Ig-like C2-type 6.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Silent	SNP	ENST00000524871.1	37	c.1851G>A	CCDS53696.1																																																																																				0.378	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		22	35	0	0	0	1	0	22	35					A	100064362	G	A	100064362	2	1	496	1	0	0	0	0	0	0	0	1	3644	991	35	2		2	CNTN5	11	100064362	Silent	SNP	G	TCGA-QD-A8IV-01A-11D-A397-08	26992845	100064362	34942154	10	10135											
POU2F3	25833	broad.mit.edu	37	chr11	120169019	120169019	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcagcagaccctctccCatcggccatgccacctgagt	8	19	1	2			TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr11:120169019C>A	ENST00000543440.2	+	4	328	c.178C>A	c.(178-180)Cat>Aat	p.H60N	POU2F3_ENST00000260264.4_Missense_Mutation_p.H62N	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	60					epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		GACCCTCTCCCATCGGCCATG	0.532																																						ENST00000260264.4																			0				large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17						c.(184-186)Cat>Aat		POU class 2 homeobox 3							188	181	184					11																	120169019		2203	4300	6503	SO:0001583	missense	25833				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding	g.chr11:120169019C>A	AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"Homeoboxes / POU class"	19864	protein-coding gene	gene with protein product		607394	"POU domain class 2, transcription factor 3"			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.178C>A	11.37:g.120169019C>A	ENSP00000441687:p.His60Asn					POU2F3_ENST00000543440.2_Missense_Mutation_p.H60N	p.H62N	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)	4	218	+		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)	60					A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Missense_Mutation	SNP	ENST00000543440.2	37	c.184C>A	CCDS8431.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.774040	0.49786	.	.	ENSG00000137709	ENST00000543440;ENST00000260264	D;D	0.82344	-1.6;-1.59	4.36	4.36	0.52297	.	0.398395	0.28247	N	0.016060	T	0.73583	0.3605	L	0.38175	1.15	0.40079	D	0.976117	B	0.33073	0.396	B	0.29176	0.099	T	0.71553	-0.4558	10	0.13470	T	0.59	.	16.0569	0.80812	0.0:1.0:0.0:0.0	.	60	Q9UKI9	PO2F3_HUMAN	N	62;60	ENSP00000441687:H62N;ENSP00000260264:H60N	ENSP00000260264:H60N	H	+	1	0	POU2F3	119674229	0.080000	0.21391	0.984000	0.44739	0.997000	0.91878	2.767000	0.47637	2.249000	0.74217	0.563000	0.77884	CAT		0.532	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388039.2			114	163	1	0	2.91849e-64	1	3.18381e-64	114	163					A	120169019	C	A	120169019	3	1	496	1	0	0	0	0	1	0	0	0	12273	594	21	4	192	4	POU2F3	11	120169019	Missense_Mutation	SNP	C	TCGA-QD-A8IV-01A-11D-A397-08	20104657	120169019	14837497	11	10136											
SLCO1B3	28234	broad.mit.edu	37	chr12	21014004	21014004	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcagaaaattcaacatcaaGtttatcaacctgtttaatta	3	7	4	1	rs369529563		TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr12:21014004G>T	ENST00000381545.3	+	6	632	c.413G>T	c.(412-414)aGt>aTt	p.S138I	LST3_ENST00000540229.1_Missense_Mutation_p.S138I|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.S138I|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.S138I|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	138					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TCAACATCAAGTTTATCAACC	0.284																																						ENST00000381545.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(412-414)aGt>aTt		solute carrier organic anion transporter family, member 1B3		G	ILE/SER	0,4394		0,0,2197	54	53	53		413	-2.0	0.0	12		53	3,8565	3.0+/-9.4	0,3,4281	no	missense	SLCO1B3	NM_019844.2	142	0,3,6478	TT,TG,GG		0.035,0.0,0.0231	possibly-damaging	138/703	21014004	3,12959	2197	4284	6481	SO:0001583	missense	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21014004G>T		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"Solute carriers"	10961	protein-coding gene	gene with protein product		605495	"solute carrier family 21 (organic anion transporter), member 8"	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.413G>T	12.37:g.21014004G>T	ENSP00000370956:p.Ser138Ile					SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.S138I|LST3_ENST00000540229.1_Missense_Mutation_p.S138I|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.S138I|LST3_ENST00000381541.3_Intron	p.S138I	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN			6	632	+	Esophageal squamous(101;0.149)		138					E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	c.413G>T	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.479297	0.26511	0.0	3.5E-4	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000540853;ENST00000261196;ENST00000381545;ENST00000553473;ENST00000540229	T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06	2.88	-2.0	0.07433	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.990483	0.08229	N	0.977823	T	0.41096	0.1144	M	0.75085	2.285	0.09310	N	1	B;B	0.27498	0.008;0.18	B;B	0.31337	0.02;0.128	T	0.48917	-0.8992	10	0.59425	D	0.04	.	5.2515	0.15524	0.2379:0.3389:0.4232:0.0	.	138;138	Q5JAR4;Q9NPD5	.;SO1B3_HUMAN	I	138	ENSP00000442000:S138I;ENSP00000261196:S138I;ENSP00000370956:S138I;ENSP00000451758:S138I;ENSP00000441269:S138I	ENSP00000441269:S138I	S	+	2	0	SLCO1B3;RP11-545J16.1	20905271	0.428000	0.25522	0.011000	0.14972	0.601000	0.36947	0.090000	0.15025	-0.277000	0.09193	-0.354000	0.07668	AGT		0.284	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		4	112	1	0	0.00024832	1	0.00024832	4	112					T	21014004	G	T	21014004	3	4	496	1	0	0	0	0	1	0	0	0	14724	1029	36	4	427	4	SLCO1B3	12	21014004	Missense_Mutation	SNP	G	TCGA-QD-A8IV-01A-11D-A397-08		21014004	112837891	12	10137											
ERBB3	2065	broad.mit.edu	37	chr12	56481627	56481627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatggtcactgctttgggcCcaaccccaaccagtgctgcc	9	15	1	0			TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr12:56481627C>T	ENST00000267101.3	+	6	1102	c.662C>T	c.(661-663)cCc>cTc	p.P221L	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.P162L	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	221					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGCTTTGGGCCCAACCCCAAC	0.542																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(661-663)cCc>cTc		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							129	117	121					12																	56481627		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56481627C>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.662C>T	12.37:g.56481627C>T	ENSP00000267101:p.Pro221Leu					ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.P162L	p.P221L	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		6	1102	+			221					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.662C>T	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668957	0.88348	.	.	ENSG00000065361	ENST00000267101;ENST00000394099;ENST00000415288	T;T	0.78595	-1.18;-1.19	5.69	5.69	0.88448	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.313387	0.28109	N	0.016567	D	0.84229	0.5426	M	0.85197	2.74	0.80722	D	1	D	0.53745	0.962	P	0.50231	0.635	D	0.86398	0.1740	10	0.62326	D	0.03	.	13.5415	0.61676	0.156:0.844:0.0:0.0	.	221	P21860	ERBB3_HUMAN	L	221;221;162	ENSP00000267101:P221L;ENSP00000408340:P162L	ENSP00000267101:P221L	P	+	2	0	ERBB3	54767894	0.030000	0.19436	1.000000	0.80357	0.996000	0.88848	0.703000	0.25646	2.685000	0.91497	0.655000	0.94253	CCC		0.542	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			6	93	0	0	0	1	0	6	93					T	56481627	C	T	56481627	3	4	496	1	0	0	0	0	1	0	0	0	5208	623	22	2	815	2	ERBB3	12	56481627	Missense_Mutation	SNP	C	TCGA-QD-A8IV-01A-11D-A397-08	35467623	56481627	77370268	13	10138											
COG3	83548	broad.mit.edu	37	chr13	46066331	46066331	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttcatggttcatgtctgccAggatgaacaccaactttaca	7	11	3	1			TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr13:46066331A>T	ENST00000349995.5	+	11	1245	c.1133A>T	c.(1132-1134)cAg>cTg	p.Q378L	COG3_ENST00000465942.1_3'UTR	NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	378					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		CATGTCTGCCAGGATGAACAC	0.373																																					Ovarian(150;1048 1859 18083 21577 42700)	ENST00000349995.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24						c.(1132-1134)cAg>cTg		component of oligomeric golgi complex 3							195	157	170					13																	46066331		2203	4300	6503	SO:0001583	missense	83548				ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity	g.chr13:46066331A>T	AF131829	CCDS9398.1	13q14.11	2008-02-05			ENSG00000136152	ENSG00000136152		"Components of oligomeric golgi complex"	18619	protein-coding gene	gene with protein product		606975				11980916	Standard	NM_031431		Approved	SEC34	uc001vak.3	Q96JB2	OTTHUMG00000016855	ENST00000349995.5:c.1133A>T	13.37:g.46066331A>T	ENSP00000258654:p.Gln378Leu					COG3_ENST00000465942.1_3'UTR	p.Q378L	NM_031431.3	NP_113619.2	Q96JB2	COG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)	11	1245	+		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	378					B2RAW5|Q5VT70|Q8IXX4|Q9BZ92	Missense_Mutation	SNP	ENST00000349995.5	37	c.1133A>T	CCDS9398.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.738954	0.89573	.	.	ENSG00000136152	ENST00000349995	T	0.46063	0.88	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.46288	0.1385	L	0.42529	1.33	0.80722	D	1	P;D;P	0.57257	0.673;0.979;0.539	B;P;B	0.52554	0.218;0.702;0.208	T	0.24835	-1.0149	10	0.18276	T	0.48	-12.2902	15.4486	0.75253	1.0:0.0:0.0:0.0	.	215;378;378	B4E2F3;Q96JB2;Q96JB2-2	.;COG3_HUMAN;.	L	378	ENSP00000258654:Q378L	ENSP00000258654:Q378L	Q	+	2	0	COG3	44964332	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.100000	0.94213	2.242000	0.73789	0.533000	0.62120	CAG		0.373	COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044777.2			21	27	0	0	0	1	0	21	27					T	46066331	A	T	46066331	3	4	496	1	0	0	0	0	1	0	0	0	3659	188	7	5	1175	5	COG3	13	46066331	Missense_Mutation	SNP	A	TCGA-QD-A8IV-01A-11D-A397-08		46066331	69103547	14	10139											
MRPL28	10573	broad.mit.edu	37	chr16	417713	417713	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttctgcaccaccgccggctCtgacagtgcctgctgctgca	10	17	2	1			TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr16:417713C>A	ENST00000199706.8	-	6	768	c.733G>T	c.(733-735)Gag>Tag	p.E245*	MRPL28_ENST00000389675.2_Nonsense_Mutation_p.E245*|MRPL28_ENST00000429738.1_Intron	NM_006428.4	NP_006419.2	Q13084	RM28_HUMAN	mitochondrial ribosomal protein L28	245					translation (GO:0006412)	cytoplasm (GO:0005737)|mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)	5		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)				ACCGCCGGCTCTGACAGTGCC	0.617																																						ENST00000199706.8																			0				breast(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)	5						c.(733-735)Gag>Tag		mitochondrial ribosomal protein L28							52	49	50					16																	417713		2203	4300	6503	SO:0001587	stop_gained	10573				translation	mitochondrial ribosome	protein binding|structural constituent of ribosome	g.chr16:417713C>A	U19796	CCDS32349.1	16p13.12	2012-09-26	2002-11-13		ENSG00000086504	ENSG00000086504		"Mitochondrial ribosomal proteins / large subunits"	14484	protein-coding gene	gene with protein product		604853	"melanoma-associated antigen recognised by cytotoxic T lymphocytes"	MAAT1		11551941, 19753307	Standard	NM_006428		Approved	p15	uc002cgs.2	Q13084	OTTHUMG00000047994	ENST00000199706.8:c.733G>T	16.37:g.417713C>A	ENSP00000199706:p.Glu245*					MRPL28_ENST00000389675.2_Nonsense_Mutation_p.E245*|MRPL28_ENST00000429738.1_Intron	p.E245*	NM_006428.4	NP_006419.2	Q13084	RM28_HUMAN			6	768	-		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)	245					B2RCM4|D3DU46|Q4TT39|Q96S26|Q9BQD8|Q9BR04	Nonsense_Mutation	SNP	ENST00000199706.8	37	c.733G>T	CCDS32349.1	.	.	.	.	.	.	.	.	.	.	C	8.604	0.887565	0.17540	.	.	ENSG00000086504	ENST00000397735;ENST00000199706;ENST00000397734;ENST00000389675	.	.	.	4.8	-0.175	0.13315	.	0.286567	0.37012	N	0.002300	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-25.0837	7.946	0.29987	0.0:0.5654:0.2644:0.1702	.	.	.	.	X	245	.	ENSP00000199706:E245X	E	-	1	0	MRPL28	357714	0.970000	0.33590	0.009000	0.14445	0.003000	0.03518	2.261000	0.43276	0.085000	0.17107	0.637000	0.83480	GAG		0.617	MRPL28-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139285.2			23	35	1	0	1.2476e-16	1	1.28324e-16	23	35					A	417713	C	A	417713	4	1	496	1	0	0	0	0	0	1	0	0	9792	922	32	4	41	4	MRPL28	16	417713	Nonsense_Mutation	SNP	C	TCGA-QD-A8IV-01A-11D-A397-08		417713	89937040	15	10140											
CYLD	1540	broad.mit.edu	37	chr16	50828308	50828308	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaaggacgattctgcctgGctcttctttgacagcatggc	13	10	3	1			TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr16:50828308G>A	ENST00000427738.3	+	17	2860	c.2655G>A	c.(2653-2655)tgG>tgA	p.W885*	CYLD_ENST00000566206.1_Nonsense_Mutation_p.W882*|CYLD_ENST00000569418.1_Nonsense_Mutation_p.W882*|CYLD_ENST00000311559.9_Nonsense_Mutation_p.W885*|CYLD_ENST00000540145.1_Nonsense_Mutation_p.W885*|CYLD_ENST00000568704.2_Nonsense_Mutation_p.W700*|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000398568.2_Nonsense_Mutation_p.W882*|CYLD_ENST00000564326.1_Nonsense_Mutation_p.W882*|RP11-327F22.4_ENST00000564510.1_RNA			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	885	USP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				ATTCTGCCTGGCTCTTCTTTG	0.483			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													ENST00000540145.1			yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	"Mis, N, F, S"	familial cylindromatosis gene			E		cylindroma	cylindroma		0				central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62						c.(2653-2655)tgG>tgA		cylindromatosis (turban tumor syndrome)							192	189	190					16																	50828308		1984	4169	6153	SO:0001587	stop_gained	1540	Multiple Trichoepithelioma, Familial;Familial Cylindromatosis	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50828308G>A	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"ubiquitin specific peptidase like 2"	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.2655G>A	16.37:g.50828308G>A	ENSP00000392025:p.Trp885*					CYLD_ENST00000311559.9_Nonsense_Mutation_p.W885*|CYLD_ENST00000564326.1_Nonsense_Mutation_p.W882*|CYLD_ENST00000566206.1_Nonsense_Mutation_p.W882*|CYLD_ENST00000427738.3_Nonsense_Mutation_p.W885*|CYLD_ENST00000398568.2_Nonsense_Mutation_p.W882*|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000569418.1_Nonsense_Mutation_p.W882*|CYLD_ENST00000568704.2_Nonsense_Mutation_p.W700*|RP11-327F22.4_ENST00000564510.1_RNA	p.W885*			Q9NQC7	CYLD_HUMAN			18	3070	+		all_cancers(37;0.0156)	885					O94934|Q7L3N6|Q96EH0|Q9NZX9	Nonsense_Mutation	SNP	ENST00000427738.3	37	c.2655G>A	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	G	41	8.886082	0.98990	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.8125	20.1615	0.98135	0.0:0.0:1.0:0.0	.	.	.	.	X	885;885;882;882	.	ENSP00000308928:W885X	W	+	3	0	CYLD	49385809	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.361000	0.97122	2.835000	0.97688	0.650000	0.86243	TGG		0.483	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			65	109	0	0	0	1	0	65	109					A	50828308	G	A	50828308	4	1	496	1	0	0	0	0	0	1	0	0	4143	1212	42	2	2717	2	CYLD	16	50828308	Nonsense_Mutation	SNP	G	TCGA-QD-A8IV-01A-11D-A397-08	50410595	50828308	39526445	16	10141											
NDUFV2	4729	broad.mit.edu	37	chr18	9124980	9124980	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaataaatgacaattactAtgtgagtatttcaggtaata	6	4	2	2			TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr18:9124980A>G	ENST00000318388.6	+	6	692	c.578A>G	c.(577-579)tAt>tGt	p.Y193C	RP11-143J12.2_ENST00000582375.1_RNA|NDUFV2_ENST00000400033.1_Splice_Site_p.Y196C|NDUFV2_ENST00000465096.1_3'UTR|RP11-21J18.1_ENST00000579126.1_RNA|RP11-143J12.2_ENST00000583081.1_RNA	NM_021074.4	NP_066552.2	P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	193					cardiac muscle tissue development (GO:0048738)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|nervous system development (GO:0007399)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|lung(4)|ovary(1)|stomach(1)	7						GACAATTACTATGTGAGTATT	0.328																																						ENST00000400033.1																			0				breast(1)|lung(4)|ovary(1)|stomach(1)	7						c.e7+1		NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	NADH(DB00157)						56	55	55					18																	9124980		2203	4300	6503	SO:0001630	splice_region_variant	4729				cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity	g.chr18:9124980A>G	X84421	CCDS11842.1	18p11.22	2011-07-04	2002-08-29		ENSG00000178127	ENSG00000178127	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7717	protein-coding gene	gene with protein product	"complex I 24kDa subunit", "NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial"	600532	"NADH dehydrogenase (ubiquinone) flavoprotein 2 (24kD)"			9763677, 7607668	Standard	NM_021074		Approved	CI-24k	uc002knu.3	P19404	OTTHUMG00000131593	ENST00000318388.6:c.579+1A>G	18.37:g.9124980A>G						RP11-143J12.2_ENST00000582375.1_RNA|NDUFV2_ENST00000318388.6_Splice_Site_p.Y193_splice|NDUFV2_ENST00000465096.1_3'UTR|RP11-21J18.1_ENST00000579126.1_RNA|RP11-143J12.2_ENST00000583081.1_RNA	p.Y196_splice			P19404	NDUV2_HUMAN			7	704	+			193					Q9BV41	Splice_Site	SNP	ENST00000318388.6	37	c.588_splice	CCDS11842.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.238034	0.79800	.	.	ENSG00000178127	ENST00000318388;ENST00000400033	T;T	0.53857	0.6;0.6	5.58	5.58	0.84498	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.77698	0.4169	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.83021	-0.0167	10	0.87932	D	0	-14.9673	15.7512	0.77986	1.0:0.0:0.0:0.0	.	193	P19404	NDUV2_HUMAN	C	193;196	ENSP00000327268:Y193C;ENSP00000382908:Y196C	ENSP00000327268:Y193C	Y	+	2	0	NDUFV2	9114980	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.073000	0.93992	2.125000	0.65367	0.377000	0.23210	TAT		0.328	NDUFV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254475.2	NM_021074	Missense_Mutation	15	23	0	0	0	1	0	15	23					G	9124980	A	G	9124980	5	3	496	1	0	0	0	0	0	0	1	0	10300	463	16	3	600	3	NDUFV2	18	9124980	Splice_Site	SNP	A	TCGA-QD-A8IV-01A-11D-A397-08		9124980	68952268	17	10142											
ALPK2	115701	broad.mit.edu	37	chr18	56203904	56203904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttgcgggtgagtgggccGtgggcaccaagtttctttcc	15	10	1	1	rs140868694	byFrequency	TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr18:56203904G>A	ENST00000361673.3	-	5	3728	c.3515C>T	c.(3514-3516)aCg>aTg	p.T1172M	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1172						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGAGTGGGCCGTGGGCACCAA	0.577																																						ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(3514-3516)aCg>aTg		alpha-kinase 2		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	90	80	83		3515	-4.1	0.0	18	dbSNP_134	83	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ALPK2	NM_052947.3	81	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign	1172/2171	56203904	3,13003	2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56203904G>A	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.3515C>T	18.37:g.56203904G>A	ENSP00000354991:p.Thr1172Met					RP11-1151B14.4_ENST00000591360.1_RNA	p.T1172M	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			5	3728	-			1172					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.3515C>T	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	G	10.22	1.289156	0.23478	2.27E-4	2.33E-4	ENSG00000198796	ENST00000361673	T	0.41400	1.0	5.51	-4.1	0.03940	.	1.598930	0.03370	N	0.198820	T	0.22513	0.0543	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.04013	0.0;0.001	T	0.26849	-1.0091	10	0.66056	D	0.02	4.6211	6.2896	0.21053	0.4693:0.0:0.407:0.1237	.	1167;1172	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	M	1172	ENSP00000354991:T1172M	ENSP00000354991:T1172M	T	-	2	0	ALPK2	54354884	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.472000	0.06623	-1.088000	0.03077	-1.187000	0.01702	ACG		0.577	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		4	110	0	0	0	1	0	4	110					A	56203904	G	A	56203904	3	1	496	1	0	0	0	0	1	0	0	0	545	1145	40	1	3033	1	ALPK2	18	56203904	Missense_Mutation	SNP	G	TCGA-QD-A8IV-01A-11D-A397-08	47078924	56203904	21873344	18	10143											
PALM	5064	broad.mit.edu	37	chr19	746801	746801	+	Frame_Shift_Del	DEL	G	G	-													gaagcaccgttgtaaatgctGctccatcatgtgagccggcc							TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr19:746801delG	ENST00000338448.5	+	9	1197	c.1151delG	c.(1150-1152)tgcfs	p.C384fs	PALM_ENST00000264560.7_Frame_Shift_Del_p.C340fs|PALM_ENST00000593172.1_3'UTR	NM_002579.2	NP_002570.2	O75781	PALM_HUMAN	paralemmin	384					cellular component movement (GO:0006928)|cellular response to electrical stimulus (GO:0071257)|cytoskeleton organization (GO:0007010)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of filopodium assembly (GO:0051491)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)|synapse maturation (GO:0060074)	apicolateral plasma membrane (GO:0016327)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasmic membrane-bounded vesicle (GO:0016023)|dendrite membrane (GO:0032590)|dendritic spine membrane (GO:0032591)|filopodium membrane (GO:0031527)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)|Lung(535;0.201)		TGTAAATGCTGCTCCATCATG	0.706																																						ENST00000264560.7																			0				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(1018-1020)tcfs		paralemmin							10	12	11					19																	746801		2121	4203	6324	SO:0001589	frameshift_variant	5064				cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane		g.chr19:746801delG	Y16270	CCDS32857.1, CCDS32858.1	19p13.3	2008-07-17				ENSG00000099864			8594	protein-coding gene	gene with protein product		608134				9615234, 9813098	Standard	XM_005259565		Approved	KIAA0270	uc002lpm.1	O75781		ENST00000338448.5:c.1151delG	19.37:g.746801delG	ENSP00000341911:p.Cys384fs					PALM_ENST00000338448.5_Frame_Shift_Del_p.C384fs|PALM_ENST00000606643.1_3'UTR	p.C340fs	NM_001040134.1	NP_001035224.1	O75781	PALM_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)|Lung(535;0.201)	8	1213	+		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	384					O43359|O95673|Q92559|Q9UPJ4|Q9UQS2|Q9UQS3	Frame_Shift_Del	DEL	ENST00000338448.5	37	c.1019delG	CCDS32857.1																																																																																				0.706	PALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457592.1	NM_002579		2	4						2	4	---	---	---	---	-	746801	G	-	746801	7	5	496	1	0	1	0	1	0	0	0	0	11408	1319	46	0	1185	0	PALM	19	746801	Frame_Shift_Del	DEL	G	TCGA-QD-A8IV-01A-11D-A397-08		746801	58382182	19	10144											
ACTL9	284382	broad.mit.edu	37	chr19	8808059	8808059	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgttttgggccaagtccgcGcgcatctccagtgacaactt	10	13	1	1			TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr19:8808059G>A	ENST00000324436.3	-	1	1113	c.993C>T	c.(991-993)cgC>cgT	p.R331R		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	331						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CCAAGTCCGCGCGCATCTCCA	0.667																																						ENST00000324436.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						c.(991-993)cgC>cgT		actin-like 9							37	37	37					19																	8808059		2202	4297	6499	SO:0001819	synonymous_variant	284382					cytoplasm|cytoskeleton		g.chr19:8808059G>A		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.993C>T	19.37:g.8808059G>A							p.R331R	NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN			1	1113	-			331					A8K893|Q6X960	Silent	SNP	ENST00000324436.3	37	c.993C>T	CCDS12207.1																																																																																				0.667	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		39	45	0	0	0	1	0	39	45					A	8808059	G	A	8808059	2	1	496	1	0	0	0	0	0	0	0	1	203	1074	38	1		1	ACTL9	19	8808059	Silent	SNP	G	TCGA-QD-A8IV-01A-11D-A397-08	8061258	8808059	50320924	20	10145											
CTCFL	140690	broad.mit.edu	37	chr20	56099163	56099163	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttctctctgcacactccGtctttttcctcctccttcag	3	17	5	0			TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr20:56099163G>A	ENST00000608263.1	-	1	760	c.99C>T	c.(97-99)gaC>gaT	p.D33D	CTCFL_ENST00000432255.2_Silent_p.D33D|CTCFL_ENST00000481655.2_Silent_p.D33D|CTCFL_ENST00000429804.3_Silent_p.D33D|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000371196.2_Silent_p.D33D|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000608440.1_Silent_p.D33D|CTCFL_ENST00000608158.1_Silent_p.D33D|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000243914.3_Silent_p.D33D|CTCFL_ENST00000423479.3_Silent_p.D33D|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000422869.2_Silent_p.D33D|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000608425.1_Silent_p.D33D|CTCFL_ENST00000609232.1_Silent_p.D33D	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	33					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TGCACACTCCGTCTTTTTCCT	0.537																																						ENST00000426658.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(97-99)gaC>gaT		CCCTC-binding factor (zinc finger protein)-like							233	256	248					20																	56099163		2203	4300	6503	SO:0001819	synonymous_variant	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56099163G>A		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"Zinc fingers, C2H2-type"	16234	protein-coding gene	gene with protein product	"cancer/testis antigen 27"	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.99C>T	20.37:g.56099163G>A						CTCFL_ENST00000433949.2_Silent_p.D33D|CTCFL_ENST00000429804.2_Silent_p.D33D|CTCFL_ENST00000423479.2_Silent_p.D33D|CTCFL_ENST00000422869.2_Silent_p.D33D|CTCFL_ENST00000371196.2_Silent_p.D33D|CTCFL_ENST00000243914.3_Silent_p.D33D|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000422109.2_Silent_p.D33D|CTCFL_ENST00000432255.2_Silent_p.D33D	p.D33D			Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		1	760	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		33					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Silent	SNP	ENST00000608263.1	37	c.99C>T	CCDS13459.1																																																																																				0.537	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		7	274	0	0	0	1	0	7	274					A	56099163	G	A	56099163	2	1	496	1	0	0	0	0	0	0	0	1	4001	1136	40	1		1	CTCFL	20	56099163	Silent	SNP	G	TCGA-QD-A8IV-01A-11D-A397-08		56099163	6926357	21	10146											
IL1RAPL2	26280	broad.mit.edu	37	chrX	104993041	104993041	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcatttacaaatgctacaaCattgaattgatgctcttcta	5	8	3	2			TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chrX:104993041C>T	ENST00000372582.1	+	9	1893	c.1137C>T	c.(1135-1137)aaC>aaT	p.N379N	IL1RAPL2_ENST00000344799.4_Silent_p.N379N|IL1RAPL2_ENST00000485671.1_3'UTR	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	379					central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AATGCTACAACATTGAATTGA	0.418																																						ENST00000372582.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1135-1137)aaC>aaT		interleukin 1 receptor accessory protein-like 2							123	97	106					X																	104993041		2203	4300	6503	SO:0001819	synonymous_variant	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:104993041C>T	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1137C>T	X.37:g.104993041C>T						IL1RAPL2_ENST00000485671.1_3'UTR|IL1RAPL2_ENST00000344799.4_Silent_p.N379N	p.N379N	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN			9	1893	+			379					Q2M3U3|Q9NZN0	Silent	SNP	ENST00000372582.1	37	c.1137C>T	CCDS14517.1																																																																																				0.418	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		27	52	0	0	0	1	0	27	52					T	104993041	C	T	104993041	2	4	496	1	0	0	0	0	0	0	0	1	7662	477	17	2		2	IL1RAPL2	23	104993041	Silent	SNP	C	TCGA-QD-A8IV-01A-11D-A397-08		104993041	50277519	22	10147											
GABRE	2564	broad.mit.edu	37	chrX	151138673	151138673	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcacctccaatgccagggcgCagtttgtggtcataattact	9	11	2	0	rs76574542		TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chrX:151138673C>A	ENST00000370328.3	-	2	311	c.258G>T	c.(256-258)ctG>ctT	p.L86L	GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370325.1_Silent_p.L86L	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	86					gamma-aminobutyric acid signaling pathway (GO:0007214)|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)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				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)	TGCCAGGGCGCAGTTTGTGGT	0.532																																						ENST00000370325.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.(256-258)ctG>ctT		gamma-aminobutyric acid (GABA) A receptor, epsilon							153	137	142					X																	151138673		2203	4300	6503	SO:0001819	synonymous_variant	2564				gamma-aminobutyric acid signaling pathway	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.chrX:151138673C>A	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4085	protein-coding gene	gene with protein product	"GABA(A) receptor, epsilon"	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.258G>T	X.37:g.151138673C>A						GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Silent_p.L86L	p.L86L			P78334	GBRE_HUMAN			2	311	-	Acute lymphoblastic leukemia(192;6.56e-05)		86					E7ET93|O15345|O15346|Q6PCD2|Q99520	Silent	SNP	ENST00000370328.3	37	c.258G>T	CCDS14703.1																																																																																				0.532	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		44	82	1	0	1.02687e-29	1	1.08727e-29	44	82					A	151138673	C	A	151138673	2	1	496	1	0	0	0	0	0	0	0	1	6170	697	25	4		4	GABRE	23	151138673	Silent	SNP	C	TCGA-QD-A8IV-01A-11D-A397-08	46145632	151138673	4131887	23	10148											
